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															0													275	283	280					7																	100683876		2203	4300	6503	SO:0001583	missense	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.9179T>G	chr7.hg19:g.100683876T>G	ENSP00000302716:p.Ile3060Ser		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	hg19	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		G	100683876	T	G	100683876	3	3	658	1	0	0	0	0	1	0	0	0	9976	1493	52	5	9189	5	MUC17	7	100683876	Missense_Mutation	SNP	T	TCGA-G7-A8LE-01A-11D-A35Z-10		100683876	58454787	30	35779											
MET	4233	hgsc.bcm.edu	37	7	116423413	116423413	+	Missense_Mutation	SNP	T	T	C	rs121913247		TCGA-G7-A8LE-01A-11D-A35Z-10	TCGA-G7-A8LE-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f304b920-e25e-445a-b834-d54c241d029b	e8d9c96d-cf86-4b29-ba93-23c5e8b4bd28	g.chr7:116423413T>C	ENST00000318493.6	+	19	3929	c.3742T>C	c.(3742-3744)Tat>Cat	p.Y1248H	MET_ENST00000539704.1_Missense_Mutation_p.Y100H|MET_ENST00000397752.3_Missense_Mutation_p.Y1230H			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)	p.Y1248H(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)			CAGAGACATGTATGATAAAGA	0.388			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																														Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	1	Substitution - Missense(1)	kidney(1)	GRCh37	CM992180	MET	M	rs121913247						105	99	101					7																	116423413		1843	4095	5938	SO:0001583	missense	4233	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	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.3742T>C	chr7.hg19:g.116423413T>C	ENSP00000317272:p.Tyr1248His		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	hg19	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	T	18.43	3.622544	0.66787	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000539704	D;D;D	0.83075	-1.68;-1.68;-1.68	5.46	5.46	0.80206	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	0.90075	0.6900	M	0.68593	2.085	0.54753	D	0.999981	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91155	0.4956	10	0.87932	D	0	.	15.824	0.78683	0.0:0.0:0.0:1.0	.	1248;1230	P08581-2;P08581	.;MET_HUMAN	H	1230;1248;100	ENSP00000380860:Y1230H;ENSP00000317272:Y1248H;ENSP00000445020:Y100H	ENSP00000317272:Y1248H	Y	+	1	0	MET	116210649	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.145000	0.71769	2.197000	0.70478	0.460000	0.39030	TAT		0.388	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			C	116423413	T	C	116423413	3	2	658	1	0	0	0	0	1	0	0	0	9487	1638	57	3	3812	3	MET	7	116423413	Missense_Mutation	SNP	T	TCGA-G7-A8LE-01A-11D-A35Z-10	15739537	116423413	42715250	31	35780											
CTTNBP2	83992	hgsc.bcm.edu	37	7	117358121	117358122	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-G7-A8LE-01A-11D-A35Z-10	TCGA-G7-A8LE-10A-01D-A35Z-10	GG	GG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f304b920-e25e-445a-b834-d54c241d029b	e8d9c96d-cf86-4b29-ba93-23c5e8b4bd28	g.chr7:117358121_117358122delGG	ENST00000160373.3	-	22	4787_4788	c.4696_4697delCC	c.(4696-4698)cctfs	p.P1566fs		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1566					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TGAAAGTACAGGGTTGTTTCCA	0.411																																																0																																										SO:0001589	frameshift_variant	83992				CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"Ankyrin repeat domain containing"	15679	protein-coding gene	gene with protein product		609772	"cortactin binding protein 2"	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.4696_4697delCC	chr7.hg19:g.117358121_117358122delGG	ENSP00000160373:p.Pro1566fs		O43389|Q7LG11|Q9C0A5	Frame_Shift_Del	DEL	ENST00000160373.3	hg19	CCDS5774.1																																																																																				0.411	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		-	117358122	GG	-	117358121	7	5	658	1	0	1	0	1	0	0	0	0	4047	1000	35	0	302	0	CTTNBP2	7	117358121	Frame_Shift_Del	DEL	GG	TCGA-G7-A8LE-01A-11D-A35Z-10	934708	117358121	41780542	32	35781											
C7orf45	136263	hgsc.bcm.edu	37	7	129847790	129847790	+	Missense_Mutation	SNP	C	C	T	rs371191805		TCGA-G7-A8LE-01A-11D-A35Z-10	TCGA-G7-A8LE-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f304b920-e25e-445a-b834-d54c241d029b	e8d9c96d-cf86-4b29-ba93-23c5e8b4bd28	g.chr7:129847790C>T	ENST00000297819.3	+	1	91	c.40C>T	c.(40-42)Ccc>Tcc	p.P14S	TMEM209_ENST00000462753.1_5'Flank|TMEM209_ENST00000473456.1_5'Flank|RP11-775D22.3_ENST00000483283.1_RNA|TMEM209_ENST00000336804.8_5'Flank|TMEM209_ENST00000397622.2_5'Flank	NM_145268.3	NP_660311.1	Q8WWF3	SSMM1_HUMAN	serine-rich single-pass membrane protein 1	14						integral component of membrane (GO:0016021)											GGTAGATCCTCCCCCAATACC	0.418																																																0													207	196	200					7																	129847790		2203	4300	6503	SO:0001583	missense	0			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.40C>T	chr7.hg19:g.129847790C>T	ENSP00000297819:p.Pro14Ser			Missense_Mutation	SNP	ENST00000297819.3	hg19	CCDS5816.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.194977	0.58017	.	.	ENSG00000165120	ENST00000297819	T	0.61859	0.07	5.54	3.74	0.42951	.	0.325431	0.27206	N	0.020435	T	0.62600	0.2441	M	0.67953	2.075	0.36756	D	0.883021	D	0.55605	0.972	P	0.51806	0.68	T	0.70004	-0.4991	10	0.87932	D	0	-5.1446	8.6789	0.34196	0.0:0.8244:0.0:0.1756	.	14	Q8WWF3	CG045_HUMAN	S	14	ENSP00000297819:P14S	ENSP00000297819:P14S	P	+	1	0	C7orf45	129635026	0.971000	0.33674	0.986000	0.45419	0.468000	0.32798	2.491000	0.45303	0.831000	0.34780	-0.136000	0.14681	CCC		0.418	SSMEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349768.1	NM_145268		T	129847790	C	T	129847790	3	4	658	1	0	0	0	0	1	0	0	0	2397	855	30	2	42	2	C7orf45	7	129847790	Missense_Mutation	SNP	C	TCGA-G7-A8LE-01A-11D-A35Z-10	12489669	129847790	29290873	33	35782											
C7orf34	3792	hgsc.bcm.edu	37	7	142636835	142636835	+	IGR	SNP	G	G	C			TCGA-G7-A8LE-01A-11D-A35Z-10	TCGA-G7-A8LE-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f304b920-e25e-445a-b834-d54c241d029b	e8d9c96d-cf86-4b29-ba93-23c5e8b4bd28	g.chr7:142636835G>C	ENST00000355265.2	-	0	2812				C7orf34_ENST00000409607.3_Missense_Mutation_p.E64D	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)					GCCAGACAGAGAAAACGCCCT	0.547																																																0													48	53	51					7																	142636835		2203	4300	6503	SO:0001628	intergenic_variant	135927			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		chr7.hg19:g.142636835G>C			B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	hg19	CCDS34766.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	12.95|12.95	2.090470|2.090470	0.36855|0.36855	.|.	.|.	ENSG00000165131|ENSG00000165131	ENST00000409607|ENST00000458732	.|.	.|.	.|.	3.5|3.5	-3.57|-3.57	0.04612|0.04612	.|.	1.113020|1.113020	0.06947|0.06947	N|N	0.813873|0.813873	T|T	0.30386|0.30386	0.0763|0.0763	L|L	0.34521|0.34521	1.04|1.04	0.09310|0.09310	N|N	1|1	B|.	0.20550|.	0.046|.	B|.	0.18871|.	0.023|.	T|T	0.35126|0.35126	-0.9801|-0.9801	9|7	0.34782|0.46703	T|T	0.22|0.11	-5.1258|-5.1258	4.2209|4.2209	0.10558|0.10558	0.3996:0.332:0.2685:0.0|0.3996:0.332:0.2685:0.0	.|.	39|.	Q96L11|.	CG034_HUMAN|.	D|Q	64|70	.|.	ENSP00000386450:E64D|ENSP00000401055:E70Q	E|E	+|+	3|1	2|0	C7orf34|C7orf34	142346957|142346957	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	-1.159000|-1.159000	0.03150|0.03150	-0.937000|-0.937000	0.03719|0.03719	-0.387000|-0.387000	0.06579|0.06579	GAG|GAA		0.547	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		C	142636835	G	C	142636835	1	2	658	0	1	0	0	0	0	0	0	0	2391	933	33	4		4	C7orf34	7	142636835	IGR	SNP	G	TCGA-G7-A8LE-01A-11D-A35Z-10	12789045	142636835	16501828	34	35783											
TSPYL5	85453	hgsc.bcm.edu	37	8	98289181	98289181	+	Missense_Mutation	SNP	A	A	C			TCGA-G7-A8LE-01A-11D-A35Z-10	TCGA-G7-A8LE-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f304b920-e25e-445a-b834-d54c241d029b	e8d9c96d-cf86-4b29-ba93-23c5e8b4bd28	g.chr8:98289181A>C	ENST00000322128.3	-	1	995	c.892T>G	c.(892-894)Ttc>Gtc	p.F298V		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	298					cellular response to gamma radiation (GO:0071480)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|regulation of growth (GO:0040008)	nucleus (GO:0005634)				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					TTGCGATCGAAGTAGAACTTG	0.473																																																0													83	84	84					8																	98289181		2203	4300	6503	SO:0001583	missense	85453			AB051537	CCDS34927.1	8q22.1	2011-05-24			ENSG00000180543	ENSG00000180543			29367	protein-coding gene	gene with protein product		614721				11214970	Standard	NM_033512		Approved	KIAA1750	uc003yhy.3	Q86VY4	OTTHUMG00000164857	ENST00000322128.3:c.892T>G	chr8.hg19:g.98289181A>C	ENSP00000322802:p.Phe298Val		B3KRF0|Q9C0B3	Missense_Mutation	SNP	ENST00000322128.3	hg19	CCDS34927.1	.	.	.	.	.	.	.	.	.	.	A	18.29	3.590837	0.66219	.	.	ENSG00000180543	ENST00000322128	T	0.78364	-1.17	4.4	4.4	0.53042	.	0.000000	0.38492	N	0.001675	D	0.90232	0.6946	H	0.95224	3.64	0.58432	D	0.999994	D	0.76494	0.999	D	0.77557	0.99	D	0.91872	0.5508	10	0.87932	D	0	-13.9906	10.3132	0.43721	1.0:0.0:0.0:0.0	.	298	Q86VY4	TSYL5_HUMAN	V	298	ENSP00000322802:F298V	ENSP00000322802:F298V	F	-	1	0	TSPYL5	98358357	1.000000	0.71417	0.993000	0.49108	0.775000	0.43874	5.386000	0.66238	2.211000	0.71520	0.460000	0.39030	TTC		0.473	TSPYL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380611.1	NM_033512		C	98289181	A	C	98289181	3	2	658	1	0	0	0	0	1	0	0	0	16667	72	3	5	365	5	TSPYL5	8	98289181	Missense_Mutation	SNP	A	TCGA-G7-A8LE-01A-11D-A35Z-10		98289181	48074841	35	35784											
TG	7038	hgsc.bcm.edu	37	8	134024148	134024148	+	Missense_Mutation	SNP	T	T	C			TCGA-G7-A8LE-01A-11D-A35Z-10	TCGA-G7-A8LE-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f304b920-e25e-445a-b834-d54c241d029b	e8d9c96d-cf86-4b29-ba93-23c5e8b4bd28	g.chr8:134024148T>C	ENST00000220616.4	+	36	6305	c.6265T>C	c.(6265-6267)Tct>Cct	p.S2089P	TG_ENST00000377869.1_Missense_Mutation_p.S2032P|TG_ENST00000519543.1_Missense_Mutation_p.S222P|TG_ENST00000522523.1_3'UTR|TG_ENST00000542445.1_Missense_Mutation_p.S459P	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2089					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)		TCTCCTAGTGTCTCTGGACTC	0.527																																																0													407	366	380					8																	134024148		2203	4300	6503	SO:0001583	missense	7038			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.6265T>C	chr8.hg19:g.134024148T>C	ENSP00000220616:p.Ser2089Pro		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	hg19	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.504|8.504	0.864979|0.864979	0.17250|0.17250	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445;ENST00000519543|ENST00000519178	T;T;T;T|T	0.68903|0.68331	-0.15;-0.15;-0.36;-0.34|-0.32	5.58|5.58	-7.76|-7.76	0.01232|0.01232	.|.	0.909678|.	0.09285|.	N|.	0.823146|.	T|T	0.41650|0.41650	0.1168|0.1168	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	B;B;P|.	0.51240|.	0.08;0.024;0.943|.	B;B;P|.	0.44477|.	0.017;0.018;0.451|.	T|T	0.32268|0.32268	-0.9913|-0.9913	10|7	0.62326|0.23891	D|T	0.03|0.37	.|.	2.7412|2.7412	0.05254|0.05254	0.1687:0.1507:0.4783:0.2023|0.1687:0.1507:0.4783:0.2023	.|.	222;459;2089|.	E7EVM0;F5GWW5;P01266|.	.;.;THYG_HUMAN|.	P|A	2032;895;2089;459;222|544	ENSP00000367100:S2032P;ENSP00000220616:S2089P;ENSP00000441693:S459P;ENSP00000430430:S222P|ENSP00000430523:V544A	ENSP00000220616:S2089P|ENSP00000430523:V544A	S|V	+|+	1|2	0|0	TG|TG	134093330|134093330	0.000000|0.000000	0.05858|0.05858	0.003000|0.003000	0.11579|0.11579	0.055000|0.055000	0.15305|0.15305	-0.975000|-0.975000	0.03790|0.03790	-1.298000|-1.298000	0.02348|0.02348	0.460000|0.460000	0.39030|0.39030	TCT|GTC		0.527	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		C	134024148	T	C	134024148	3	2	658	1	0	0	0	0	1	0	0	0	15818	1667	58	3	6407	3	TG	8	134024148	Missense_Mutation	SNP	T	TCGA-G7-A8LE-01A-11D-A35Z-10	35734967	134024148	12339874	36	35785											
CIZ1	25792	hgsc.bcm.edu	37	9	130939947	130939947	+	Silent	SNP	G	G	T			TCGA-G7-A8LE-01A-11D-A35Z-10	TCGA-G7-A8LE-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f304b920-e25e-445a-b834-d54c241d029b	e8d9c96d-cf86-4b29-ba93-23c5e8b4bd28	g.chr9:130939947G>T	ENST00000393608.1	-	10	1918	c.1716C>A	c.(1714-1716)ccC>ccA	p.P572P	CIZ1_ENST00000277465.4_Silent_p.P544P|CIZ1_ENST00000541172.1_Silent_p.P471P|CIZ1_ENST00000372954.1_Silent_p.P492P|CIZ1_ENST00000538431.1_Silent_p.P572P|CIZ1_ENST00000476727.2_Intron|CIZ1_ENST00000372948.3_Silent_p.P516P|CIZ1_ENST00000325721.8_Silent_p.P543P|CIZ1_ENST00000372938.5_Silent_p.P572P|CIZ1_ENST00000357558.5_Silent_p.P544P	NM_012127.2	NP_036259.2	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	572					maintenance of protein location in nucleus (GO:0051457)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						CGGAGTCACTGGGGCGGGGGA	0.642																																																0													22	21	21					9																	130939947		2199	4297	6496	SO:0001819	synonymous_variant	25792			AB030835	CCDS6894.1, CCDS48033.1, CCDS48034.1, CCDS75910.1	9q34.1	2012-10-05			ENSG00000148337	ENSG00000148337			16744	protein-coding gene	gene with protein product		611420				10529385	Standard	NM_001131015		Approved	LSFR1, ZNF356	uc011mas.2	Q9ULV3	OTTHUMG00000020735	ENST00000393608.1:c.1716C>A	chr9.hg19:g.130939947G>T			A8K9J8|B4E131|B7ZAS8|Q5SYW3|Q5SYW5|Q8WU72|Q9H868|Q9NYM8|Q9UHK4|Q9Y3F9|Q9Y3G0	Silent	SNP	ENST00000393608.1	hg19	CCDS6894.1																																																																																				0.642	CIZ1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054399.1	NM_012127		T	130939947	G	T	130939947	2	4	658	1	0	0	0	0	0	0	0	1	3443	1335	47	4		4	CIZ1	9	130939947	Silent	SNP	G	TCGA-G7-A8LE-01A-11D-A35Z-10		130939947	10273484	37	35786											
PRKCQ	5588	hgsc.bcm.edu	37	10	6557092	6557092	+	Silent	SNP	C	C	T	rs201768145		TCGA-G7-A8LE-01A-11D-A35Z-10	TCGA-G7-A8LE-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f304b920-e25e-445a-b834-d54c241d029b	e8d9c96d-cf86-4b29-ba93-23c5e8b4bd28	g.chr10:6557092C>T	ENST00000263125.5	-	2	105	c.6G>A	c.(4-6)tcG>tcA	p.S2S	PRKCQ_ENST00000539722.1_5'UTR|PRKCQ_ENST00000397176.2_Silent_p.S2S	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	2					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)	GAAGAAATGGCGACATGGTTG	0.478													C|||	1	0.000199681	0.0	0.0	5008	,	,		19940	0.0		0.0	False		,,,				2504	0.001				Ovarian(50;572 1126 10530 25349 30594)											0													64	66	65					10																	6557092		2203	4300	6503	SO:0001819	synonymous_variant	5588			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.6G>A	chr10.hg19:g.6557092C>T			B4DF52|Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	Silent	SNP	ENST00000263125.5	hg19	CCDS7079.1																																																																																				0.478	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046665.1	NM_006257		T	6557092	C	T	6557092	2	4	658	1	0	0	0	0	0	0	0	1	12520	755	27	1		1	PRKCQ	10	6557092	Silent	SNP	C	TCGA-G7-A8LE-01A-11D-A35Z-10		6557092	128977655	38	35787											
CBARA1	10367	hgsc.bcm.edu	37	10	74127978	74127978	+	Missense_Mutation	SNP	C	C	G			TCGA-G7-A8LE-01A-11D-A35Z-10	TCGA-G7-A8LE-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f304b920-e25e-445a-b834-d54c241d029b	e8d9c96d-cf86-4b29-ba93-23c5e8b4bd28	g.chr10:74127978C>G	ENST00000361114.5	-	12	1502	c.1406G>C	c.(1405-1407)tGg>tCg	p.W469S	MICU1_ENST00000398763.4_Missense_Mutation_p.W271S|MICU1_ENST00000401998.3_Missense_Mutation_p.W469S|MICU1_ENST00000418483.2_Missense_Mutation_p.W271S|MICU1_ENST00000398761.4_Missense_Mutation_p.W471S	NM_001195518.1|NM_006077.3	NP_001182447.1|NP_006068.2	Q9BPX6	MICU1_HUMAN	mitochondrial calcium uptake 1	469					calcium ion import (GO:0070509)|calcium ion transmembrane import into mitochondrion (GO:0036444)|defense response (GO:0006952)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|protein homooligomerization (GO:0051260)	calcium channel complex (GO:0034704)|integral component of mitochondrial membrane (GO:0032592)|intracellular (GO:0005622)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|uniplex complex (GO:1990246)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)										AGCGAAGTCCCAGGCAGTTTC	0.572																																																0													79	81	80					10																	74127978		1926	4143	6069	SO:0001583	missense	10367			Y17711	CCDS55714.1, CCDS55715.1	10q22.1	2013-01-10	2011-06-23	2011-06-23	ENSG00000107745	ENSG00000107745		"EF-hand domain containing"	1530	protein-coding gene	gene with protein product		605084	"calcium binding atopy-related autoantigen 1"	CBARA1		9806765, 20693986	Standard	NM_006077		Approved	CALC, EFHA3, FLJ12684	uc001jtb.2	Q9BPX6	OTTHUMG00000018437	ENST00000361114.5:c.1406G>C	chr10.hg19:g.74127978C>G	ENSP00000354415:p.Trp469Ser		A8MV96|B3KN20|B4DJH9|B4DPI1|B5MBY3|D3YTJ3|O75785|Q9H9N6|Q9UFX0	Missense_Mutation	SNP	ENST00000361114.5	hg19	CCDS55715.1	.	.	.	.	.	.	.	.	.	.	C	17.87	3.496041	0.64186	.	.	ENSG00000107745	ENST00000361114;ENST00000398761;ENST00000401998;ENST00000418483;ENST00000398763	T;T;T;T;T	0.80738	-1.38;-1.41;-1.38;0.93;0.94	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.75451	0.3851	L	0.36672	1.1	0.80722	D	1	B;B;B	0.24882	0.074;0.074;0.113	B;B;B	0.17433	0.012;0.012;0.018	T	0.68800	-0.5313	10	0.38643	T	0.18	.	20.3312	0.98718	0.0:1.0:0.0:0.0	.	271;271;469	Q9BPX6-4;Q9BPX6-5;Q9BPX6	.;.;MICU1_HUMAN	S	469;471;469;271;271	ENSP00000354415:W469S;ENSP00000381745:W471S;ENSP00000384068:W469S;ENSP00000402470:W271S;ENSP00000381747:W271S	ENSP00000354415:W469S	W	-	2	0	MICU1	73797984	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	7.792000	0.85828	2.797000	0.96272	0.655000	0.94253	TGG		0.572	MICU1-002	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048586.1	NM_006077		G	74127978	C	G	74127978	3	3	658	1	0	0	0	0	1	0	0	0	2698	595	21	4	28	4	CBARA1	10	74127978	Missense_Mutation	SNP	C	TCGA-G7-A8LE-01A-11D-A35Z-10	67570886	74127978	61406769	39	35788											
TSPAN14	81619	hgsc.bcm.edu	37	10	82264502	82264502	+	Missense_Mutation	SNP	C	C	A			TCGA-G7-A8LE-01A-11D-A35Z-10	TCGA-G7-A8LE-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f304b920-e25e-445a-b834-d54c241d029b	e8d9c96d-cf86-4b29-ba93-23c5e8b4bd28	g.chr10:82264502C>A	ENST00000429989.3	+	3	323	c.100C>A	c.(100-102)Ctt>Att	p.L34I	TSPAN14_ENST00000341863.6_Missense_Mutation_p.L34I|TSPAN14_ENST00000481124.1_Intron|TSPAN14_ENST00000372156.1_Missense_Mutation_p.L34I|TSPAN14_ENST00000372164.3_Intron|TSPAN14_ENST00000372158.1_Missense_Mutation_p.L34I	NM_030927.2	NP_112189.2	Q8NG11	TSN14_HUMAN	tetraspanin 14	34					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)			AGTTGTCTTCCTTGGAGTCGG	0.512																																																0													210	176	188					10																	82264502		2203	4300	6503	SO:0001583	missense	81619			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.100C>A	chr10.hg19:g.82264502C>A	ENSP00000396270:p.Leu34Ile		A6NHE1|B4DHY6|D3DWD7|D3DWD8|Q567U7|Q9BU34|Q9H0U1	Missense_Mutation	SNP	ENST00000429989.3	hg19	CCDS7369.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.118747	0.56505	.	.	ENSG00000108219	ENST00000429989;ENST00000372160;ENST00000372158;ENST00000341863;ENST00000372156	T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35	5.54	5.54	0.83059	.	0.056707	0.64402	D	0.000002	T	0.67590	0.2909	N	0.12569	0.235	0.54753	D	0.999986	B	0.14438	0.01	B	0.31245	0.126	T	0.63233	-0.6683	10	0.36615	T	0.2	-19.5088	10.4111	0.44294	0.0:0.9117:0.0:0.0883	.	34	Q8NG11	TSN14_HUMAN	I	34	ENSP00000396270:L34I;ENSP00000361231:L34I;ENSP00000344076:L34I;ENSP00000361229:L34I	ENSP00000344076:L34I	L	+	1	0	TSPAN14	82254482	1.000000	0.71417	0.997000	0.53966	0.964000	0.63967	2.970000	0.49240	2.623000	0.88846	0.561000	0.74099	CTT		0.512	TSPAN14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049081.2	NM_030927		A	82264502	C	A	82264502	3	1	658	1	0	0	0	0	1	0	0	0	16643	681	24	4	106	4	TSPAN14	10	82264502	Missense_Mutation	SNP	C	TCGA-G7-A8LE-01A-11D-A35Z-10	8136524	82264502	53270245	40	35789											
TCERG1L	256536	hgsc.bcm.edu	37	10	132896657	132896657	+	Missense_Mutation	SNP	T	T	G			TCGA-G7-A8LE-01A-11D-A35Z-10	TCGA-G7-A8LE-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f304b920-e25e-445a-b834-d54c241d029b	e8d9c96d-cf86-4b29-ba93-23c5e8b4bd28	g.chr10:132896657T>G	ENST00000368642.4	-	11	1601	c.1516A>C	c.(1516-1518)Aaa>Caa	p.K506Q	RP11-462G8.3_ENST00000436942.1_RNA	NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	506										cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		TATTCTTCTTTTATTCTTGTC	0.328																																																0													61	52	55					10																	132896657		2132	4211	6343	SO:0001583	missense	256536			AK096269	CCDS7662.2	10q26.3	2006-04-12			ENSG00000176769	ENSG00000176769			23533	protein-coding gene	gene with protein product							Standard	NM_174937		Approved	FLJ38950	uc001lkp.3	Q5VWI1	OTTHUMG00000019276	ENST00000368642.4:c.1516A>C	chr10.hg19:g.132896657T>G	ENSP00000357631:p.Lys506Gln		Q5VWI2|Q86XM8	Missense_Mutation	SNP	ENST00000368642.4	hg19	CCDS7662.2	.	.	.	.	.	.	.	.	.	.	T	14.93	2.683146	0.47991	.	.	ENSG00000176769	ENST00000368642	T	0.24723	1.84	4.71	4.71	0.59529	FF domain (2);	0.155083	0.40144	N	0.001180	T	0.23611	0.0571	L	0.33137	0.985	0.39116	D	0.961576	P	0.48764	0.915	B	0.44315	0.446	T	0.05370	-1.0889	10	0.49607	T	0.09	-6.5535	13.0047	0.58696	0.0:0.0:0.0:1.0	.	506	Q5VWI1	TCRGL_HUMAN	Q	506	ENSP00000357631:K506Q	ENSP00000357631:K506Q	K	-	1	0	TCERG1L	132786647	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	3.703000	0.54808	1.755000	0.51935	0.383000	0.25322	AAA		0.328	TCERG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091619.2	NM_174937		G	132896657	T	G	132896657	3	3	658	1	0	0	0	0	1	0	0	0	15691	1850	64	5	252	5	TCERG1L	10	132896657	Missense_Mutation	SNP	T	TCGA-G7-A8LE-01A-11D-A35Z-10	50632155	132896657	2638090	41	35790											
LRDD	55367	hgsc.bcm.edu	37	11	801091	801091	+	Silent	SNP	G	G	A			TCGA-G7-A8LE-01A-11D-A35Z-10	TCGA-G7-A8LE-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f304b920-e25e-445a-b834-d54c241d029b	e8d9c96d-cf86-4b29-ba93-23c5e8b4bd28	g.chr11:801091G>A	ENST00000347755.5	-	10	1801	c.1660C>T	c.(1660-1662)Ctg>Ttg	p.L554L	PIDD_ENST00000411829.2_Silent_p.L554L|PIDD_ENST00000534649.1_5'Flank	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2																					CAGTACAACAGGTGCAGGCGG	0.662																																																0													29	23	25					11																	801091		2184	4289	6473	SO:0001819	synonymous_variant	55367																														ENST00000347755.5:c.1660C>T	chr11.hg19:g.801091G>A				Silent	SNP	ENST00000347755.5	hg19	CCDS7716.1																																																																																				0.662	PIDD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257103.1			A	801091	G	A	801091	2	1	658	1	0	0	0	0	0	0	0	1	8938	991	35	2		2	LRDD	11	801091	Silent	SNP	G	TCGA-G7-A8LE-01A-11D-A35Z-10		801091	134205425	42	35791											
CDKN1C	1028	hgsc.bcm.edu	37	11	2906711	2906711	+	Missense_Mutation	SNP	G	G	T			TCGA-G7-A8LE-01A-11D-A35Z-10	TCGA-G7-A8LE-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f304b920-e25e-445a-b834-d54c241d029b	e8d9c96d-cf86-4b29-ba93-23c5e8b4bd28	g.chr11:2906711G>T	ENST00000414822.3	-	1	400	c.9C>A	c.(7-9)gaC>gaA	p.D3E	CDKN1C_ENST00000313407.6_Intron|CDKN1C_ENST00000430149.2_Missense_Mutation_p.D3E|CDKN1C_ENST00000380725.1_Intron|CDKN1C_ENST00000440480.2_Intron	NM_000076.2	NP_000067.1	P49918	CDN1C_HUMAN	cyclin-dependent kinase inhibitor 1C (p57, Kip2)	3					adrenal gland development (GO:0030325)|aging (GO:0007568)|camera-type eye development (GO:0043010)|cell cycle arrest (GO:0007050)|digestive system development (GO:0055123)|embryonic placenta morphogenesis (GO:0060669)|genetic imprinting (GO:0071514)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|myeloid cell differentiation (GO:0030099)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of kinase activity (GO:0033673)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron maturation (GO:0042551)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|skeletal system development (GO:0001501)|uterus development (GO:0060065)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)			central_nervous_system(1)|lung(1)	2		all_epithelial(84;0.000187)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|Breast(177;0.00328)|all_neural(188;0.00681)|all_lung(207;0.157)|Lung NSC(207;0.216)		BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGAGGGACGCGTCGGACATGG	0.692																																					GBM(111;59 1151 2497 5746 16112 18241 29216)											0													10	9	9					11																	2906711		2081	4104	6185	SO:0001583	missense	1028			D64137	CCDS7738.1, CCDS44519.1	11p15.5	2014-09-17	2004-02-13		ENSG00000129757	ENSG00000129757			1786	protein-coding gene	gene with protein product		600856	"Beckwith-Wiedemann syndrome"	BWCR, BWS		7729684	Standard	NM_000076		Approved	P57, KIP2	uc001lws.4	P49918	OTTHUMG00000010040	ENST00000414822.3:c.9C>A	chr11.hg19:g.2906711G>T	ENSP00000413720:p.Asp3Glu			Missense_Mutation	SNP	ENST00000414822.3	hg19	CCDS7738.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.160155	0.57368	.	.	ENSG00000129757	ENST00000414822;ENST00000430149	D;D	0.90900	-2.75;-2.75	2.34	1.37	0.22104	.	.	.	.	.	T	0.80839	0.4700	N	0.14661	0.345	0.80722	D	1	D	0.59357	0.985	B	0.42625	0.393	T	0.77595	-0.2529	9	0.72032	D	0.01	.	8.4056	0.32612	0.1313:0.0:0.8687:0.0	.	3	P49918	CDN1C_HUMAN	E	3	ENSP00000413720:D3E;ENSP00000411552:D3E	ENSP00000413720:D3E	D	-	3	2	CDKN1C	2863287	1.000000	0.71417	0.820000	0.32676	0.754000	0.42855	3.513000	0.53414	0.317000	0.23160	0.305000	0.20034	GAC		0.692	CDKN1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000027774.2	NM_000076		T	2906711	G	T	2906711	3	4	658	1	0	0	0	0	1	0	0	0	3162	1136	40	4	949	4	CDKN1C	11	2906711	Missense_Mutation	SNP	G	TCGA-G7-A8LE-01A-11D-A35Z-10	2105620	2906711	132099805	43	35792											
NLRP14	338323	hgsc.bcm.edu	37	11	7063888	7063888	+	Missense_Mutation	SNP	A	A	C			TCGA-G7-A8LE-01A-11D-A35Z-10	TCGA-G7-A8LE-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f304b920-e25e-445a-b834-d54c241d029b	e8d9c96d-cf86-4b29-ba93-23c5e8b4bd28	g.chr11:7063888A>C	ENST00000299481.4	+	4	977	c.631A>C	c.(631-633)Aag>Cag	p.K211Q		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	211	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GCAGAGGTTTAAGTATGTTTT	0.468																																																0													86	89	88					11																	7063888		2201	4296	6497	SO:0001583	missense	338323			BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"Nucleotide-binding domain and leucine rich repeat containing"	22939	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"	609665	"NACHT, leucine rich repeat and PYD containing 14"	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.631A>C	chr11.hg19:g.7063888A>C	ENSP00000299481:p.Lys211Gln		Q7RTR6	Missense_Mutation	SNP	ENST00000299481.4	hg19	CCDS7776.1	.	.	.	.	.	.	.	.	.	.	A	6.311	0.425450	0.11987	.	.	ENSG00000158077	ENST00000299481	T	0.81078	-1.45	4.47	-6.77	0.01727	NACHT nucleoside triphosphatase (1);	3.128170	0.00879	N	0.002112	T	0.63616	0.2526	N	0.11023	0.085	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.54221	-0.8326	10	0.35671	T	0.21	.	11.4429	0.50107	0.1819:0.0:0.6906:0.1275	.	211	Q86W24	NAL14_HUMAN	Q	211	ENSP00000299481:K211Q	ENSP00000299481:K211Q	K	+	1	0	NLRP14	7020464	0.000000	0.05858	0.000000	0.03702	0.201000	0.24016	-0.397000	0.07269	-1.362000	0.02166	-0.417000	0.06048	AAG		0.468	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		C	7063888	A	C	7063888	3	2	658	1	0	0	0	0	1	0	0	0	10478	363	13	5	641	5	NLRP14	11	7063888	Missense_Mutation	SNP	A	TCGA-G7-A8LE-01A-11D-A35Z-10	4157177	7063888	127942628	44	35793											
SYT13	57586	hgsc.bcm.edu	37	11	45277403	45277403	+	Missense_Mutation	SNP	C	C	T			TCGA-G7-A8LE-01A-11D-A35Z-10	TCGA-G7-A8LE-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f304b920-e25e-445a-b834-d54c241d029b	e8d9c96d-cf86-4b29-ba93-23c5e8b4bd28	g.chr11:45277403C>T	ENST00000020926.3	-	2	334	c.223G>A	c.(223-225)Gcc>Acc	p.A75T	CTD-2560E9.5_ENST00000531663.1_RNA|CTD-2560E9.5_ENST00000534342.1_RNA	NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	75					vesicle-mediated transport (GO:0016192)	integral component of plasma membrane (GO:0005887)|transport vesicle (GO:0030133)				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						TTGAGGAGGGCACGGGGCTGA	0.512																																																0													92	93	93					11																	45277403		2203	4299	6502	SO:0001583	missense	57586			AB037848	CCDS31470.1	11p12-p11	2013-01-21			ENSG00000019505	ENSG00000019505		"Synaptotagmins"	14962	protein-coding gene	gene with protein product		607716				11171101	Standard	NM_020826		Approved	KIAA1427	uc001myq.2	Q7L8C5	OTTHUMG00000166504	ENST00000020926.3:c.223G>A	chr11.hg19:g.45277403C>T	ENSP00000020926:p.Ala75Thr		A8K4P4|D3DQP1|Q9BQS3|Q9H041|Q9P2C0	Missense_Mutation	SNP	ENST00000020926.3	hg19	CCDS31470.1	.	.	.	.	.	.	.	.	.	.	C	11.25	1.583492	0.28268	.	.	ENSG00000019505	ENST00000020926	T	0.07800	3.16	5.42	1.33	0.21861	.	0.374613	0.26542	N	0.023790	T	0.04634	0.0126	N	0.19112	0.55	0.18873	N	0.999988	B	0.14805	0.011	B	0.12837	0.008	T	0.40136	-0.9579	10	0.28530	T	0.3	.	5.7553	0.18170	0.0:0.5127:0.2665:0.2209	.	75	Q7L8C5	SYT13_HUMAN	T	75	ENSP00000020926:A75T	ENSP00000020926:A75T	A	-	1	0	SYT13	45233979	0.000000	0.05858	0.284000	0.24805	0.331000	0.28603	-0.652000	0.05366	0.051000	0.15978	-0.258000	0.10820	GCC		0.512	SYT13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390110.1	NM_020826		T	45277403	C	T	45277403	3	4	658	1	0	0	0	0	1	0	0	0	15474	710	25	2	1077	2	SYT13	11	45277403	Missense_Mutation	SNP	C	TCGA-G7-A8LE-01A-11D-A35Z-10	38213515	45277403	89729113	45	35794											
CLP1	10978	hgsc.bcm.edu	37	11	57427119	57427121	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-G7-A8LE-01A-11D-A35Z-10	TCGA-G7-A8LE-10A-01D-A35Z-10	TGA	TGA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f304b920-e25e-445a-b834-d54c241d029b	e8d9c96d-cf86-4b29-ba93-23c5e8b4bd28	g.chr11:57427119_57427121delTGA	ENST00000302731.4	+	2	291_293	c.171_173delTGA	c.(169-174)tttgat>ttt	p.D58del	CLP1_ENST00000529430.1_In_Frame_Del_p.D69del|CLP1_ENST00000533682.1_In_Frame_Del_p.D58del|CLP1_ENST00000525602.1_In_Frame_Del_p.D58del	NM_001142597.1|NM_006831.2	NP_001136069.1|NP_006822.1	Q5KU26	COL12_HUMAN	cleavage and polyadenylation factor I subunit 1	0					carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|stomach(1)	15						AATTCACCTTTGATGCTGGTGCC	0.517																																																0																																										SO:0001651	inframe_deletion	10978			BC000446	CCDS7964.1, CCDS44600.1	11q12.1	2012-10-02	2012-10-02		ENSG00000172409	ENSG00000172409	2.7.1.78		16999	protein-coding gene	gene with protein product	"ATP/GTPbinding protein", "polyribonucleotide 5'-hydroxyl-kinase"	608757	"CLP1, cleavage and polyadenylation factor I subunit, homolog (S. cerevisiae)"			8896421, 11060040	Standard	NM_006831		Approved	HEAB, hClp1	uc001nkw.3	Q92989	OTTHUMG00000167146	ENST00000302731.4:c.171_173delTGA	chr11.hg19:g.57427119_57427121delTGA	ENSP00000304704:p.Asp58del		Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	In_Frame_Del	DEL	ENST00000302731.4	hg19	CCDS44600.1																																																																																				0.517	CLP1-003	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000393465.1	NM_006831		-	57427121	TGA	-	57427119	7	5	658	1	0	1	0	1	0	0	0	0	3552	1809	63	0	173	0	CLP1	11	57427119	In_Frame_Del	DEL	TGA	TCGA-G7-A8LE-01A-11D-A35Z-10	12149716	57427119	77579397	46	35795											
C11orf24	53838	hgsc.bcm.edu	37	11	68029170	68029172	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-G7-A8LE-01A-11D-A35Z-10	TCGA-G7-A8LE-10A-01D-A35Z-10	CTT	CTT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f304b920-e25e-445a-b834-d54c241d029b	e8d9c96d-cf86-4b29-ba93-23c5e8b4bd28	g.chr11:68029170_68029172delCTT	ENST00000304271.6	-	4	1693_1695	c.1291_1293delAAG	c.(1291-1293)aagdel	p.K431del	C11orf24_ENST00000533310.1_In_Frame_Del_p.K96del|C11orf24_ENST00000530166.1_5'Flank	NM_022338.3	NP_071733.1	Q96F05	CK024_HUMAN	chromosome 11 open reading frame 24	431						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)	13						GGGTGTAGTCCTTCTTCTTGTAG	0.557																																					NSCLC(21;855 905 4198 36694)											0										5,4259		2,1,2129						5.3	1			94	2,8252		0,2,4125	no	coding	C11orf24	NM_022338.3		2,3,6254	A1A1,A1R,RR		0.0242,0.1173,0.0559				7,12511				SO:0001651	inframe_deletion	53838			AF264781	CCDS8180.1, CCDS73338.1	11q13.2	2014-01-08			ENSG00000171067	ENSG00000171067			1174	protein-coding gene	gene with protein product		610880				11401438, 24312644	Standard	NM_022338		Approved	DM4E3	uc001onr.4	Q96F05	OTTHUMG00000167478	ENST00000304271.6:c.1291_1293delAAG	chr11.hg19:g.68029176_68029178delCTT	ENSP00000307264:p.Lys431del		Q9H2K4	In_Frame_Del	DEL	ENST00000304271.6	hg19	CCDS8180.1																																																																																				0.557	C11orf24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394750.1	NM_022338		-	68029172	CTT	-	68029170	7	5	658	1	0	1	0	1	0	0	0	0	1637	680	24	0	60	0	C11orf24	11	68029170	In_Frame_Del	DEL	CTT	TCGA-G7-A8LE-01A-11D-A35Z-10	10602051	68029170	66977346	47	35796											
GDF3	9573	hgsc.bcm.edu	37	12	7842823	7842823	+	Missense_Mutation	SNP	C	C	G			TCGA-G7-A8LE-01A-11D-A35Z-10	TCGA-G7-A8LE-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f304b920-e25e-445a-b834-d54c241d029b	e8d9c96d-cf86-4b29-ba93-23c5e8b4bd28	g.chr12:7842823C>G	ENST00000329913.3	-	2	793	c.746G>C	c.(745-747)aGg>aCg	p.R249T		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	249					endoderm development (GO:0007492)|eye development (GO:0001654)|formation of anatomical boundary (GO:0048859)|growth (GO:0040007)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of epidermal cell differentiation (GO:0045605)|notochord development (GO:0030903)|primitive streak formation (GO:0090009)|regulation of cell fate commitment (GO:0010453)|response to dietary excess (GO:0002021)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GGCTGCTCTCCTTTTCCGAGA	0.537																																																0													96	87	90					12																	7842823		2203	4300	6503	SO:0001583	missense	9573			AF263538	CCDS8581.1	12p13.1	2014-01-30			ENSG00000184344	ENSG00000184344		"Endogenous ligands"	4218	protein-coding gene	gene with protein product		606522				9467948	Standard	NM_020634		Approved		uc001qte.3	Q9NR23	OTTHUMG00000168433	ENST00000329913.3:c.746G>C	chr12.hg19:g.7842823C>G	ENSP00000331745:p.Arg249Thr		Q8NEJ4	Missense_Mutation	SNP	ENST00000329913.3	hg19	CCDS8581.1	.	.	.	.	.	.	.	.	.	.	C	9.046	0.990771	0.18966	.	.	ENSG00000184344	ENST00000329913	D	0.85171	-1.95	4.61	4.61	0.57282	Transforming growth factor-beta, C-terminal (1);	0.240498	0.47852	D	0.000210	D	0.91875	0.7428	M	0.90705	3.14	0.45366	D	0.998357	D	0.62365	0.991	D	0.63957	0.92	D	0.92487	0.5997	10	0.72032	D	0.01	.	9.051	0.36376	0.0:0.8988:0.0:0.1012	.	249	Q9NR23	GDF3_HUMAN	T	249	ENSP00000331745:R249T	ENSP00000331745:R249T	R	-	2	0	GDF3	7734090	0.177000	0.23109	0.988000	0.46212	0.114000	0.19823	0.441000	0.21611	2.285000	0.76669	0.561000	0.74099	AGG		0.537	GDF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399717.1			G	7842823	C	G	7842823	3	3	658	1	0	0	0	0	1	0	0	0	6317	681	24	4	352	4	GDF3	12	7842823	Missense_Mutation	SNP	C	TCGA-G7-A8LE-01A-11D-A35Z-10		7842823	126009072	48	35797											
OVCH1	341350	hgsc.bcm.edu	37	12	29608320	29608321	+	Missense_Mutation	DNP	GT	GT	CC			TCGA-G7-A8LE-01A-11D-A35Z-10	TCGA-G7-A8LE-10A-01D-A35Z-10	G|T	G|T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f304b920-e25e-445a-b834-d54c241d029b	e8d9c96d-cf86-4b29-ba93-23c5e8b4bd28	g.chr12:29608320_29608321GT>CC	ENST00000318184.5	-	20	2297_2298	c.2298_2299AC>GG	c.(2296-2301)ccACta>ccGGta	p.L767V	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	767	Peptidase S1 2. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					CTACATACTAGTGGCCCACCAG	0.455																																																0																																										SO:0001583	missense	341350			BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.2298_2299delinsCC	chr12.hg19:g.29608320_29608321delinsCC	ENSP00000326708:p.Leu767Val			Missense_Mutation|Silent	SNP	ENST00000318184.5	hg19																																																																																					0.455	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378		CC	29608321	GT	CC	29608320	3	2	658	1	0	0	0	0	1	0	0	0	11325	1020	36	4	1141	4	OVCH1	12	29608320	Missense_Mutation	DNP	GT	TCGA-G7-A8LE-01A-11D-A35Z-10	21765497	29608320	104243575	49	35798											
IPO8	10526	hgsc.bcm.edu	37	12	30792659	30792659	+	Missense_Mutation	SNP	A	A	C			TCGA-G7-A8LE-01A-11D-A35Z-10	TCGA-G7-A8LE-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f304b920-e25e-445a-b834-d54c241d029b	e8d9c96d-cf86-4b29-ba93-23c5e8b4bd28	g.chr12:30792659A>C	ENST00000256079.4	-	21	2617	c.2279T>G	c.(2278-2280)cTc>cGc	p.L760R	IPO8_ENST00000544829.1_Missense_Mutation_p.L555R	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	760					intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)			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)					TTGAACGAAGAGTGGAATGCA	0.403																																																0													84	80	81					12																	30792659		2203	4300	6503	SO:0001583	missense	10526			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.2279T>G	chr12.hg19:g.30792659A>C	ENSP00000256079:p.Leu760Arg		B7Z7M3	Missense_Mutation	SNP	ENST00000256079.4	hg19	CCDS8719.1	.	.	.	.	.	.	.	.	.	.	A	12.82	2.052055	0.36181	.	.	ENSG00000133704	ENST00000256079;ENST00000545286;ENST00000544829	T;T	0.66638	-0.22;-0.22	5.27	4.12	0.48240	Armadillo-like helical (1);Armadillo-type fold (1);	0.064281	0.64402	D	0.000005	T	0.73148	0.3550	L	0.52573	1.65	0.80722	D	1	P;D;B	0.89917	0.629;1.0;0.212	B;D;B	0.91635	0.411;0.999;0.15	T	0.67776	-0.5583	10	0.15952	T	0.53	-8.69	10.8138	0.46562	0.9249:0.0:0.0751:0.0	.	555;236;760	B7Z7M3;Q59F59;O15397	.;.;IPO8_HUMAN	R	760;236;555	ENSP00000256079:L760R;ENSP00000444520:L555R	ENSP00000256079:L760R	L	-	2	0	IPO8	30683926	1.000000	0.71417	0.849000	0.33467	0.980000	0.70556	8.966000	0.93397	0.842000	0.35045	0.460000	0.39030	CTC		0.403	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402700.2	NM_006390		C	30792659	A	C	30792659	3	2	658	1	0	0	0	0	1	0	0	0	7800	304	11	5	854	5	IPO8	12	30792659	Missense_Mutation	SNP	A	TCGA-G7-A8LE-01A-11D-A35Z-10	1184339	30792659	103059236	50	35799											
SLC2A13	114134	hgsc.bcm.edu	37	12	40158612	40158612	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G7-A8LE-01A-11D-A35Z-10	TCGA-G7-A8LE-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f304b920-e25e-445a-b834-d54c241d029b	e8d9c96d-cf86-4b29-ba93-23c5e8b4bd28	g.chr12:40158612G>C	ENST00000280871.4	-	8	1544	c.1494C>G	c.(1492-1494)taC>taG	p.Y498*		NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	498					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)				GGCAGAAATTGTAAGCCCAAA	0.343										HNSCC(50;0.14)																																						0													130	147	141					12																	40158612		2203	4300	6503	SO:0001587	stop_gained	114134			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.1494C>G	chr12.hg19:g.40158612G>C	ENSP00000280871:p.Tyr498*		Q17S07	Nonsense_Mutation	SNP	ENST00000280871.4	hg19	CCDS8736.2	.	.	.	.	.	.	.	.	.	.	G	33	5.203671	0.95033	.	.	ENSG00000151229	ENST00000280871	.	.	.	5.12	1.25	0.21368	.	0.355074	0.30028	N	0.010593	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.089	8.9456	0.35756	0.5097:0.0:0.4903:0.0	.	.	.	.	X	498	.	ENSP00000280871:Y498X	Y	-	3	2	SLC2A13	38444879	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.673000	0.37534	0.197000	0.20387	-0.157000	0.13467	TAC		0.343	SLC2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132849.2			C	40158612	G	C	40158612	4	2	658	1	0	0	0	0	0	1	0	0	14548	1372	48	4	464	4	SLC2A13	12	40158612	Nonsense_Mutation	SNP	G	TCGA-G7-A8LE-01A-11D-A35Z-10	9365953	40158612	93693283	51	35800											
SLC2A13	114134	hgsc.bcm.edu	37	12	40441958	40441958	+	Frame_Shift_Del	DEL	A	A	-			TCGA-G7-A8LE-01A-11D-A35Z-10	TCGA-G7-A8LE-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f304b920-e25e-445a-b834-d54c241d029b	e8d9c96d-cf86-4b29-ba93-23c5e8b4bd28	g.chr12:40441958delA	ENST00000280871.4	-	2	661	c.611delT	c.(610-612)ttafs	p.L204fs	SLC2A13_ENST00000380858.1_Frame_Shift_Del_p.L204fs	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	204					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)				TCGGCCTCTTAAATTGGGTGG	0.418										HNSCC(50;0.14)																																						0													163	155	158					12																	40441958		2203	4300	6503	SO:0001589	frameshift_variant	114134			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.611delT	chr12.hg19:g.40441958delA	ENSP00000280871:p.Leu204fs		Q17S07	Frame_Shift_Del	DEL	ENST00000280871.4	hg19	CCDS8736.2																																																																																				0.418	SLC2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132849.2			-	40441958	A	-	40441958	7	5	658	1	0	1	0	1	0	0	0	0	14548	372	13	0	1371	0	SLC2A13	12	40441958	Frame_Shift_Del	DEL	A	TCGA-G7-A8LE-01A-11D-A35Z-10	283346	40441958	93409937	52	35801											
MLL2	8085	hgsc.bcm.edu	37	12	49434397	49434397	+	Missense_Mutation	SNP	G	G	C			TCGA-G7-A8LE-01A-11D-A35Z-10	TCGA-G7-A8LE-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f304b920-e25e-445a-b834-d54c241d029b	e8d9c96d-cf86-4b29-ba93-23c5e8b4bd28	g.chr12:49434397G>C	ENST00000301067.7	-	31	7155	c.7156C>G	c.(7156-7158)Cgg>Ggg	p.R2386G		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2386	Poly-Pro.|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)										GGTTGGGGCCGAGGAGTCAAT	0.642																																																0													22	27	25					12																	49434397		2046	4195	6241	SO:0001583	missense	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.7156C>G	chr12.hg19:g.49434397G>C	ENSP00000301067:p.Arg2386Gly		O14687	Missense_Mutation	SNP	ENST00000301067.7	hg19	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	4.200	0.035884	0.08148	.	.	ENSG00000167548	ENST00000301067	D	0.84146	-1.81	5.21	3.18	0.36537	.	0.000000	0.34338	N	0.004047	D	0.85822	0.5786	L	0.48642	1.525	0.29050	N	0.884552	D	0.69078	0.997	P	0.54815	0.761	T	0.82159	-0.0595	10	0.87932	D	0	.	12.3552	0.55171	0.0:0.0:0.6054:0.3946	.	2386	O14686	MLL2_HUMAN	G	2386	ENSP00000301067:R2386G	ENSP00000301067:R2386G	R	-	1	2	MLL2	47720664	0.998000	0.40836	1.000000	0.80357	0.529000	0.34654	1.401000	0.34589	1.276000	0.44395	0.591000	0.81541	CGG		0.642	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			C	49434397	G	C	49434397	3	2	658	1	0	0	0	0	1	0	0	0	9623	1057	37	4	9553	4	MLL2	12	49434397	Missense_Mutation	SNP	G	TCGA-G7-A8LE-01A-11D-A35Z-10	8992439	49434397	84417498	53	35802											
RACGAP1	29127	hgsc.bcm.edu	37	12	50410456	50410456	+	Frame_Shift_Del	DEL	G	G	-			TCGA-G7-A8LE-01A-11D-A35Z-10	TCGA-G7-A8LE-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f304b920-e25e-445a-b834-d54c241d029b	e8d9c96d-cf86-4b29-ba93-23c5e8b4bd28	g.chr12:50410456delG	ENST00000427314.2	-	4	266	c.43delC	c.(43-45)cttfs	p.L15fs	RACGAP1_ENST00000434422.1_Frame_Shift_Del_p.L15fs|RACGAP1_ENST00000454520.2_Frame_Shift_Del_p.L15fs|RACGAP1_ENST00000551016.1_Frame_Shift_Del_p.L15fs|RACGAP1_ENST00000312377.5_Frame_Shift_Del_p.L15fs|RACGAP1_ENST00000547905.1_Frame_Shift_Del_p.L15fs	NM_013277.3	NP_037409.2			Rac GTPase activating protein 1											cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						CGGCGCACAAGCTGCTCAAAC	0.438																																																0													134	143	140					12																	50410456		2203	4300	6503	SO:0001589	frameshift_variant	29127				CCDS8795.1	12q13	2004-05-17				ENSG00000161800			9804	protein-coding gene	gene with protein product		604980				9497316	Standard	NM_013277		Approved	MgcRacGAP	uc001rvs.2	Q9H0H5		ENST00000427314.2:c.43delC	chr12.hg19:g.50410456delG	ENSP00000404190:p.Leu15fs			Frame_Shift_Del	DEL	ENST00000427314.2	hg19	CCDS8795.1																																																																																				0.438	RACGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405997.1	NM_013277		-	50410456	G	-	50410456	7	5	658	1	0	1	0	1	0	0	0	0	12983	971	34	0	1919	0	RACGAP1	12	50410456	Frame_Shift_Del	DEL	G	TCGA-G7-A8LE-01A-11D-A35Z-10	976059	50410456	83441439	54	35803											
LRIG3	121227	hgsc.bcm.edu	37	12	59271539	59271539	+	Missense_Mutation	SNP	T	T	C			TCGA-G7-A8LE-01A-11D-A35Z-10	TCGA-G7-A8LE-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f304b920-e25e-445a-b834-d54c241d029b	e8d9c96d-cf86-4b29-ba93-23c5e8b4bd28	g.chr12:59271539T>C	ENST00000320743.3	-	15	2465	c.2179A>G	c.(2179-2181)Aaa>Gaa	p.K727E	LRIG3_ENST00000379141.4_Missense_Mutation_p.K667E	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	727	Ig-like C2-type 3.				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)			CAGTTCAGTTTAGGGGGAGGG	0.493			T	ROS1	NSCLC																																		Dom	yes		12	12q14.1	121227	leucine-rich repeats and immunoglobulin-like domains 3		E	0													114	111	112					12																	59271539		2203	4300	6503	SO:0001583	missense	121227			AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"Immunoglobulin superfamily / I-set domain containing"	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.2179A>G	chr12.hg19:g.59271539T>C	ENSP00000326759:p.Lys727Glu		Q6UXL7|Q8NC72	Missense_Mutation	SNP	ENST00000320743.3	hg19	CCDS8960.1	.	.	.	.	.	.	.	.	.	.	T	9.226	1.034489	0.19590	.	.	ENSG00000139263	ENST00000379141;ENST00000320743	T;T	0.65732	-0.17;-0.17	5.59	1.51	0.23008	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.37715	N	0.001969	T	0.41558	0.1164	N	0.05554	-0.025	0.09310	N	1	B;B	0.23735	0.007;0.09	B;B	0.31442	0.038;0.13	T	0.28004	-1.0057	9	.	.	.	.	14.1036	0.65072	0.0:0.0:0.5152:0.4848	.	667;727	Q6UXM1-2;Q6UXM1	.;LRIG3_HUMAN	E	667;727	ENSP00000368436:K667E;ENSP00000326759:K727E	.	K	-	1	0	LRIG3	57557806	0.002000	0.14202	0.001000	0.08648	0.212000	0.24457	1.189000	0.32114	0.431000	0.26258	0.533000	0.62120	AAA		0.493	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377		C	59271539	T	C	59271539	3	2	658	1	0	0	0	0	1	0	0	0	8948	1763	61	3	1200	3	LRIG3	12	59271539	Missense_Mutation	SNP	T	TCGA-G7-A8LE-01A-11D-A35Z-10	8861083	59271539	74580356	55	35804											
NAV3	89795	hgsc.bcm.edu	37	12	78400770	78400770	+	Silent	SNP	C	C	A			TCGA-G7-A8LE-01A-11D-A35Z-10	TCGA-G7-A8LE-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f304b920-e25e-445a-b834-d54c241d029b	e8d9c96d-cf86-4b29-ba93-23c5e8b4bd28	g.chr12:78400770C>A	ENST00000397909.2	+	8	1625	c.1452C>A	c.(1450-1452)gtC>gtA	p.V484V	NAV3_ENST00000536525.2_Silent_p.V484V|NAV3_ENST00000266692.7_Silent_p.V484V|NAV3_ENST00000228327.6_Silent_p.V484V			Q8IVL0	NAV3_HUMAN	neuron navigator 3	484						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						AAAAACCAGTCAAAGAAGAGA	0.408										HNSCC(70;0.22)																																						0													72	71	71					12																	78400770		1859	4097	5956	SO:0001819	synonymous_variant	89795			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.1452C>A	chr12.hg19:g.78400770C>A			Q8NFW7|Q9Y2E7	Silent	SNP	ENST00000397909.2	hg19																																																																																					0.408	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		A	78400770	C	A	78400770	2	1	658	1	0	0	0	0	0	0	0	1	10187	813	29	4		4	NAV3	12	78400770	Silent	SNP	C	TCGA-G7-A8LE-01A-11D-A35Z-10	19129231	78400770	55451125	56	35805											
SALL2	6297	hgsc.bcm.edu	37	14	21993091	21993091	+	Silent	SNP	G	G	A			TCGA-G7-A8LE-01A-11D-A35Z-10	TCGA-G7-A8LE-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f304b920-e25e-445a-b834-d54c241d029b	e8d9c96d-cf86-4b29-ba93-23c5e8b4bd28	g.chr14:21993091G>A	ENST00000327430.3	-	2	1065	c.771C>T	c.(769-771)tcC>tcT	p.S257S	SALL2_ENST00000317492.5_Intron|AE000658.22_ENST00000535893.1_RNA|SALL2_ENST00000450879.2_Intron|SALL2_ENST00000538754.1_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	257	Poly-Ser.				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(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		aggaggaggaggaagaTGCCA	0.582																																																0													48	47	48					14																	21993091		2203	4300	6503	SO:0001819	synonymous_variant	6297			AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821		"Zinc fingers, C2H2-type"	10526	protein-coding gene	gene with protein product		602219	"sal (Drosophila)-like 2", "sal-like 2 (Drosophila)"			8975705	Standard	XM_005267983		Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.771C>T	chr14.hg19:g.21993091G>A			B2RMX6|B9EGK8|Q8N656|Q9Y4G1	Silent	SNP	ENST00000327430.3	hg19	CCDS32045.1																																																																																				0.582	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401242.1	NM_005407		A	21993091	G	A	21993091	2	1	658	1	0	0	0	0	0	0	0	1	13817	987	35	2		2	SALL2	14	21993091	Silent	SNP	G	TCGA-G7-A8LE-01A-11D-A35Z-10		21993091	85356449	57	35806											
RHBDL1	9028	hgsc.bcm.edu	37	16	726998	726998	+	Missense_Mutation	SNP	C	C	T			TCGA-G7-A8LE-01A-11D-A35Z-10	TCGA-G7-A8LE-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f304b920-e25e-445a-b834-d54c241d029b	e8d9c96d-cf86-4b29-ba93-23c5e8b4bd28	g.chr16:726998C>T	ENST00000219551.2	+	3	676	c.649C>T	c.(649-651)Cgc>Tgc	p.R217C	LA16c-313D11.9_ENST00000567091.1_RNA|RHBDL1_ENST00000352681.3_Missense_Mutation_p.R152C|LA16c-313D11.9_ENST00000571933.1_RNA			O75783	RHBL1_HUMAN	rhomboid, veinlet-like 1 (Drosophila)	217					signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(1)|lung(4)|urinary_tract(3)	9		Hepatocellular(780;0.0218)				TTACGGGGCCCGCCTCAACAA	0.682																																																0													63	67	66					16																	726998		2201	4298	6499	SO:0001583	missense	9028			Y17108	CCDS61779.1	16p13.3	2008-02-05	2001-11-28	2003-04-11	ENSG00000103269	ENSG00000103269			10007	protein-coding gene	gene with protein product		603264	"rhomboid (veinlet, Drosophila)-like"	RHBDL		9662444	Standard	NM_001278720		Approved	RRP	uc002cis.1	O75783	OTTHUMG00000121141	ENST00000219551.2:c.649C>T	chr16.hg19:g.726998C>T	ENSP00000219551:p.Arg217Cys		A2IDC0|A2IDC1|Q0VAX4|Q9NQ85	Missense_Mutation	SNP	ENST00000219551.2	hg19	CCDS10418.1	.	.	.	.	.	.	.	.	.	.	C	12.17	1.859017	0.32884	.	.	ENSG00000103269	ENST00000352681;ENST00000450775;ENST00000219551	T;T	0.33216	1.46;1.42	3.99	3.99	0.46301	.	0.143249	0.42964	D	0.000631	T	0.22399	0.0540	N	0.08118	0	0.46981	D	0.999279	D;D;D	0.61080	0.989;0.977;0.958	P;B;P	0.50617	0.54;0.439;0.646	T	0.05099	-1.0906	10	0.56958	D	0.05	-18.8892	10.2818	0.43543	0.1975:0.8025:0.0:0.0	.	152;217;152	B4DFK3;O75783;O75783-2	.;RHBL1_HUMAN;.	C	152;152;217	ENSP00000344206:R152C;ENSP00000219551:R217C	ENSP00000219551:R217C	R	+	1	0	RHBDL1	666999	0.811000	0.29063	0.683000	0.30040	0.029000	0.11900	1.737000	0.38197	2.062000	0.61559	0.557000	0.71058	CGC		0.682	RHBDL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000241619.1	NM_003961		T	726998	C	T	726998	3	4	658	1	0	0	0	0	1	0	0	0	13327	652	23	1	659	1	RHBDL1	16	726998	Missense_Mutation	SNP	C	TCGA-G7-A8LE-01A-11D-A35Z-10		726998	89627755	58	35807											
GSG2	83903	hgsc.bcm.edu	37	17	3629517	3629517	+	Missense_Mutation	SNP	A	A	G			TCGA-G7-A8LE-01A-11D-A35Z-10	TCGA-G7-A8LE-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f304b920-e25e-445a-b834-d54c241d029b	e8d9c96d-cf86-4b29-ba93-23c5e8b4bd28	g.chr17:3629517A>G	ENST00000325418.4	+	1	2307	c.2288A>G	c.(2287-2289)aAc>aGc	p.N763S	ITGAE_ENST00000571185.1_Intron|ITGAE_ENST00000263087.4_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	763	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				histone H3-T3 phosphorylation involved in chromosome passenger complex localization to kinetochore (GO:2000751)|intracellular signal transduction (GO:0035556)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|protein localization to chromosome, centromeric region (GO:0071459)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)	centrosome (GO:0005813)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|histone kinase activity (H3-T3 specific) (GO:0072354)|protein kinase activity (GO:0004672)										ACTAAATGTAACACTCCTGCC	0.443																																																0													60	59	59					17																	3629517		2203	4300	6503	SO:0001583	missense	83903			AB039834	CCDS11036.1	17p13	2005-01-19			ENSG00000177602	ENSG00000177602			19682	protein-coding gene	gene with protein product		609240					Standard	NM_031965		Approved	haspin	uc002fwp.3	Q8TF76	OTTHUMG00000090703	ENST00000325418.4:c.2288A>G	chr17.hg19:g.3629517A>G	ENSP00000325290:p.Asn763Ser		Q5U5K3|Q96MN1|Q9BXS7	Missense_Mutation	SNP	ENST00000325418.4	hg19	CCDS11036.1	.	.	.	.	.	.	.	.	.	.	A	7.407	0.633968	0.14322	.	.	ENSG00000177602	ENST00000325418	T	0.05649	3.41	5.51	0.132	0.14762	Domain of unknown function DUF3635 (1);Protein kinase, catalytic domain (1);	0.858738	0.10326	N	0.688158	T	0.04048	0.0113	N	0.16708	0.43	0.09310	N	1	B	0.21452	0.056	B	0.12837	0.008	T	0.40869	-0.9540	10	0.87932	D	0	-5.7401	5.8033	0.18426	0.3914:0.428:0.1806:0.0	.	763	Q8TF76	HASP_HUMAN	S	763	ENSP00000325290:N763S	ENSP00000325290:N763S	N	+	2	0	GSG2	3576266	0.000000	0.05858	0.010000	0.14722	0.907000	0.53573	-0.231000	0.09069	0.131000	0.18576	0.533000	0.62120	AAC		0.443	GSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207391.1	NM_031965		G	3629517	A	G	3629517	3	3	658	1	0	0	0	0	1	0	0	0	6824	43	2	3	2290	3	GSG2	17	3629517	Missense_Mutation	SNP	A	TCGA-G7-A8LE-01A-11D-A35Z-10		3629517	77565693	59	35808											
DHX33	56919	hgsc.bcm.edu	37	17	5354241	5354241	+	Silent	SNP	C	C	T			TCGA-G7-A8LE-01A-11D-A35Z-10	TCGA-G7-A8LE-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f304b920-e25e-445a-b834-d54c241d029b	e8d9c96d-cf86-4b29-ba93-23c5e8b4bd28	g.chr17:5354241C>T	ENST00000225296.3	-	9	1610	c.1410G>A	c.(1408-1410)gcG>gcA	p.A470A	DHX33_ENST00000433302.3_Silent_p.A246A	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	470					positive regulation of transcription from RNA polymerase I promoter (GO:0045943)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|rDNA binding (GO:0000182)			breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GGGCAATGGCCGCCTGAATGT	0.428																																																0													124	119	120					17																	5354241		2203	4300	6503	SO:0001819	synonymous_variant	56919			AL359945	CCDS11072.1	17p13	2003-06-13	2003-06-13	2003-06-13	ENSG00000005100	ENSG00000005100		"DEAH-boxes"	16718	protein-coding gene	gene with protein product		614405	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 33"	DDX33			Standard	NM_020162		Approved	FLJ21972, DKFZp762F2011	uc002gca.3	Q9H6R0	OTTHUMG00000102041	ENST00000225296.3:c.1410G>A	chr17.hg19:g.5354241C>T			B4DHF9|Q4G149|Q5CZ73|Q9H5M9	Silent	SNP	ENST00000225296.3	hg19	CCDS11072.1																																																																																				0.428	DHX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219826.2	NM_020162		T	5354241	C	T	5354241	2	4	658	1	0	0	0	0	0	0	0	1	4508	639	23	1		1	DHX33	17	5354241	Silent	SNP	C	TCGA-G7-A8LE-01A-11D-A35Z-10	1724724	5354241	75840969	60	35809											
ALOX12	239	hgsc.bcm.edu	37	17	6909258	6909258	+	Missense_Mutation	SNP	C	C	A			TCGA-G7-A8LE-01A-11D-A35Z-10	TCGA-G7-A8LE-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f304b920-e25e-445a-b834-d54c241d029b	e8d9c96d-cf86-4b29-ba93-23c5e8b4bd28	g.chr17:6909258C>A	ENST00000251535.6	+	10	1383	c.1330C>A	c.(1330-1332)Cct>Act	p.P444T	AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000399540.2_Intron|AC027763.2_ENST00000574377.1_Intron|AC027763.2_ENST00000399541.2_Intron|AC027763.2_ENST00000573939.1_Intron|RP11-589P10.7_ENST00000572547.1_RNA	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	444	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						CCTCTGTCCTCCTGACGACCT	0.617																																																0													71	69	70					17																	6909258		2203	4300	6503	SO:0001583	missense	239			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.1330C>A	chr17.hg19:g.6909258C>A	ENSP00000251535:p.Pro444Thr		O95569|Q6ISF8|Q9UQM4	Missense_Mutation	SNP	ENST00000251535.6	hg19	CCDS11084.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.064434	0.76187	.	.	ENSG00000108839	ENST00000251535	D	0.89681	-2.55	5.3	5.3	0.74995	Lipoxygenase, C-terminal (3);	0.359698	0.28382	N	0.015542	D	0.94892	0.8349	M	0.91920	3.255	0.42564	D	0.993152	P	0.52842	0.956	P	0.59115	0.852	D	0.95770	0.8808	10	0.87932	D	0	-1.9879	16.4972	0.84248	0.0:1.0:0.0:0.0	.	444	P18054	LOX12_HUMAN	T	444	ENSP00000251535:P444T	ENSP00000251535:P444T	P	+	1	0	ALOX12	6849982	0.298000	0.24417	1.000000	0.80357	0.973000	0.67179	4.613000	0.61176	2.763000	0.94921	0.585000	0.79938	CCT		0.617	ALOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219922.2			A	6909258	C	A	6909258	3	1	658	1	0	0	0	0	1	0	0	0	536	855	30	4	1368	4	ALOX12	17	6909258	Missense_Mutation	SNP	C	TCGA-G7-A8LE-01A-11D-A35Z-10	1555017	6909258	74285952	61	35810											
MPP2	4355	hgsc.bcm.edu	37	17	41960406	41960406	+	Silent	SNP	C	C	G	rs553317360		TCGA-G7-A8LE-01A-11D-A35Z-10	TCGA-G7-A8LE-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f304b920-e25e-445a-b834-d54c241d029b	e8d9c96d-cf86-4b29-ba93-23c5e8b4bd28	g.chr17:41960406C>G	ENST00000461854.1	-	6	475	c.390G>C	c.(388-390)acG>acC	p.T130T	MPP2_ENST00000377184.3_Silent_p.T123T|MPP2_ENST00000473246.1_5'UTR|MPP2_ENST00000520305.1_5'UTR|MPP2_ENST00000536246.1_Silent_p.T95T|MPP2_ENST00000518766.1_Silent_p.T151T|MPP2_ENST00000269095.4_Silent_p.T106T|MPP2_ENST00000523501.1_Silent_p.T95T			Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	130	L27 2. {ECO:0000255|PROSITE- ProRule:PRU00365}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		CAGAGTCGTGCGTCTCCAGGA	0.622													c|||	1	0.000199681	0.0	0.0	5008	,	,		14588	0.0		0.0	False		,,,				2504	0.001															0													30	28	29					17																	41960406		2203	4300	6503	SO:0001819	synonymous_variant	4355				CCDS11471.1, CCDS62206.1, CCDS62207.1, CCDS62208.1, CCDS62209.1, CCDS62210.1	17q12-q21	2008-07-18			ENSG00000108852	ENSG00000108852			7220	protein-coding gene	gene with protein product	"MAGUK p55 subfamily member 2", "discs large, homolog 2"	600723		DLG2		7590743	Standard	NM_001278370		Approved	DKFZp761D0712	uc002ieo.1	Q14168	OTTHUMG00000133840	ENST00000461854.1:c.390G>C	chr17.hg19:g.41960406C>G			B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Silent	SNP	ENST00000461854.1	hg19																																																																																					0.622	MPP2-003	KNOWN	non_canonical_polymorphism|basic	protein_coding	protein_coding	OTTHUMT00000258388.2	NM_005374		G	41960406	C	G	41960406	2	3	658	1	0	0	0	0	0	0	0	1	9736	755	27	4		4	MPP2	17	41960406	Silent	SNP	C	TCGA-G7-A8LE-01A-11D-A35Z-10	35051148	41960406	39234804	62	35811											
SCRN2	90507	hgsc.bcm.edu	37	17	45915920	45915920	+	Silent	SNP	A	A	G			TCGA-G7-A8LE-01A-11D-A35Z-10	TCGA-G7-A8LE-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f304b920-e25e-445a-b834-d54c241d029b	e8d9c96d-cf86-4b29-ba93-23c5e8b4bd28	g.chr17:45915920A>G	ENST00000290216.9	-	6	1040	c.915T>C	c.(913-915)ctT>ctC	p.L305L	SCRN2_ENST00000407215.3_Silent_p.L305L|SCRN2_ENST00000584123.1_Silent_p.L313L	NM_001145023.1|NM_138355.3	NP_001138495.1|NP_612364.2	Q96FV2	SCRN2_HUMAN	secernin 2	305						extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						GCGTGGCGGTAAGAAAGTGCA	0.597																																																0													97	97	97					17																	45915920		2203	4300	6503	SO:0001819	synonymous_variant	90507			BC002980	CCDS11519.1, CCDS45723.1	17q21	2008-02-05							30381	protein-coding gene	gene with protein product		614966				12221138	Standard	NM_001145023		Approved		uc002imd.3	Q96FV2		ENST00000290216.9:c.915T>C	chr17.hg19:g.45915920A>G			A8K3N1|B7Z8S7|E9PBV5|Q96AC3|Q9BU04	Silent	SNP	ENST00000290216.9	hg19	CCDS11519.1																																																																																				0.597	SCRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441383.1	NM_138355		G	45915920	A	G	45915920	2	3	658	1	0	0	0	0	0	0	0	1	13945	349	13	3		3	SCRN2	17	45915920	Silent	SNP	A	TCGA-G7-A8LE-01A-11D-A35Z-10	3955514	45915920	35279290	63	35812											
ESCO1	114799	hgsc.bcm.edu	37	18	19112541	19112541	+	Missense_Mutation	SNP	C	C	A			TCGA-G7-A8LE-01A-11D-A35Z-10	TCGA-G7-A8LE-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f304b920-e25e-445a-b834-d54c241d029b	e8d9c96d-cf86-4b29-ba93-23c5e8b4bd28	g.chr18:19112541C>A	ENST00000269214.5	-	11	3205	c.2268G>T	c.(2266-2268)tgG>tgT	p.W756C		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	756					mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)|sister chromatid cohesion (GO:0007062)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|transferase activity, transferring acyl groups (GO:0016746)			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						TTGAGCAGCACCAGGCTTTTT	0.433																																																0													156	148	151					18																	19112541		2203	4300	6503	SO:0001583	missense	114799			AL832041	CCDS32800.1	18q11.2	2013-05-02	2013-05-02		ENSG00000141446	ENSG00000141446			24645	protein-coding gene	gene with protein product		609674	"establishment of cohesion 1 homolog 1 (S. cerevisiae)"			11572484, 14576321, 15958495	Standard	NM_052911		Approved	ESO1, EFO1, KIAA1911	uc002kth.1	Q5FWF5		ENST00000269214.5:c.2268G>T	chr18.hg19:g.19112541C>A	ENSP00000269214:p.Trp756Cys		B0YJ11|B0YJ12|Q69YG4|Q69YS3|Q6IMD7|Q8N3Z5|Q8NBG2|Q96PX7	Missense_Mutation	SNP	ENST00000269214.5	hg19	CCDS32800.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158408	0.78114	.	.	ENSG00000141446	ENST00000269214	T	0.60920	0.15	5.73	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.75664	0.3880	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76564	-0.2913	10	0.40728	T	0.16	-3.2526	16.7742	0.85546	0.0:0.8709:0.1291:0.0	.	756	Q5FWF5	ESCO1_HUMAN	C	756	ENSP00000269214:W756C	ENSP00000269214:W756C	W	-	3	0	ESCO1	17366539	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.818000	0.86416	1.409000	0.46915	-0.176000	0.13171	TGG		0.433	ESCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443942.1	NM_052911		A	19112541	C	A	19112541	3	1	658	1	0	0	0	0	1	0	0	0	5250	508	18	4	262	4	ESCO1	18	19112541	Missense_Mutation	SNP	C	TCGA-G7-A8LE-01A-11D-A35Z-10		19112541	58964707	64	35813											
VAV1	7409	hgsc.bcm.edu	37	19	6821672	6821672	+	Missense_Mutation	SNP	G	G	A			TCGA-G7-A8LE-01A-11D-A35Z-10	TCGA-G7-A8LE-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f304b920-e25e-445a-b834-d54c241d029b	e8d9c96d-cf86-4b29-ba93-23c5e8b4bd28	g.chr19:6821672G>A	ENST00000602142.1	+	3	443	c.361G>A	c.(361-363)Gcc>Acc	p.A121T	VAV1_ENST00000596764.1_Missense_Mutation_p.A121T|VAV1_ENST00000599806.1_Missense_Mutation_p.A66T|VAV1_ENST00000539284.1_Missense_Mutation_p.A56T|VAV1_ENST00000304076.2_Missense_Mutation_p.A121T	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	121					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						GACCCCGATCGCCCAGAACAG	0.632																																																0													85	74	78					19																	6821672		2203	4300	6503	SO:0001583	missense	7409				CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12657	protein-coding gene	gene with protein product		164875	"vav 1 oncogene"	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.361G>A	chr19.hg19:g.6821672G>A	ENSP00000472929:p.Ala121Thr		B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP	ENST00000602142.1	hg19	CCDS12174.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.189377	0.78789	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	T;T	0.61274	0.12;0.12	4.34	4.34	0.51931	Calponin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.71400	0.3335	L	0.60845	1.875	0.54753	D	0.999986	D;D;D;P	0.89917	1.0;1.0;0.972;0.917	D;D;P;P	0.87578	0.998;0.997;0.691;0.486	T	0.73418	-0.3989	10	0.54805	T	0.06	.	14.377	0.66884	0.0:0.0:1.0:0.0	.	56;121;66;121	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	T	121;56	ENSP00000302269:A121T;ENSP00000443242:A56T	ENSP00000302269:A121T	A	+	1	0	VAV1	6772672	1.000000	0.71417	0.939000	0.37840	0.766000	0.43426	5.226000	0.65299	2.256000	0.74724	0.561000	0.74099	GCC		0.632	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1			A	6821672	G	A	6821672	3	1	658	1	0	0	0	0	1	0	0	0	17136	1087	38	1	371	1	VAV1	19	6821672	Missense_Mutation	SNP	G	TCGA-G7-A8LE-01A-11D-A35Z-10		6821672	52307311	65	35814											
MUC16	94025	hgsc.bcm.edu	37	19	8961960	8961960	+	Missense_Mutation	SNP	C	C	T	rs200653636		TCGA-G7-A8LE-01A-11D-A35Z-10	TCGA-G7-A8LE-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f304b920-e25e-445a-b834-d54c241d029b	e8d9c96d-cf86-4b29-ba93-23c5e8b4bd28	g.chr19:8961960C>T	ENST00000397910.4	-	83	43620	c.43417G>A	c.(43417-43419)Ggt>Agt	p.G14473S	MUC16_ENST00000380951.5_Missense_Mutation_p.G1114S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	22118	SEA 16. {ECO:0000255|PROSITE- ProRule:PRU00188}.			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						ACCAGGACACCGCAGATCAGG	0.488													C|||	1	0.000199681	0.0	0.0014	5008	,	,		14224	0.0		0.0	False		,,,				2504	0.0															0								T	SER/GLY	8,3914		0,8,1953	64	62	62		43417	1.3	0	19		62	1,8319		0,1,4159	yes	missense	MUC16	NM_024690.2	56	0,9,6112	TT,TC,CC		0.012,0.204,0.0735	probably-damaging	14473/14508	8961960	9,12233	1961	4160	6121	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.43417G>A	chr19.hg19:g.8961960C>T	ENSP00000381008:p.Gly14473Ser		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	hg19	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	4.878	0.163110	0.09287	0.00204	1.2E-4	ENSG00000181143	ENST00000397910;ENST00000380951	T	0.01745	4.66	4.6	1.3	0.21679	.	.	.	.	.	T	0.01254	0.0041	N	0.14661	0.345	.	.	.	P;D	0.62365	0.645;0.991	B;P	0.44732	0.077;0.459	T	0.49735	-0.8908	8	0.13853	T	0.58	.	5.8157	0.18492	0.5313:0.3158:0.0:0.1529	.	22118;14473	Q8WXI7;B5ME49	MUC16_HUMAN;.	S	14473;1114	ENSP00000381008:G14473S	ENSP00000370338:G1114S	G	-	1	0	MUC16	8822960	0.824000	0.29247	0.012000	0.15200	0.002000	0.02628	1.549000	0.36212	0.064000	0.16427	-1.203000	0.01651	GGT		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	8961960	C	T	8961960	3	4	658	1	0	0	0	0	1	0	0	0	9975	652	23	1	114	1	MUC16	19	8961960	Missense_Mutation	SNP	C	TCGA-G7-A8LE-01A-11D-A35Z-10	2140288	8961960	50167023	66	35815											
DPF1	8193	hgsc.bcm.edu	37	19	38704380	38704380	+	Silent	SNP	T	T	C			TCGA-G7-A8LE-01A-11D-A35Z-10	TCGA-G7-A8LE-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f304b920-e25e-445a-b834-d54c241d029b	e8d9c96d-cf86-4b29-ba93-23c5e8b4bd28	g.chr19:38704380T>C	ENST00000420980.2	-	9	890	c.864A>G	c.(862-864)ttA>ttG	p.L288L	DPF1_ENST00000416611.1_Silent_p.L306L|DPF1_ENST00000414789.1_Silent_p.L250L|DPF1_ENST00000456296.1_Silent_p.L306L|DPF1_ENST00000355526.4_Silent_p.L332L|DPF1_ENST00000412732.1_Silent_p.L250L	NM_004647.2	NP_004638.2	Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1	288					apoptotic process (GO:0006915)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CCGTGAATTGTAAACACGAGG	0.637																																																0													51	47	48					19																	38704380		2203	4300	6503	SO:0001819	synonymous_variant	8193			U43843	CCDS33008.2, CCDS46064.1, CCDS46065.1	19q13.12	2013-01-28			ENSG00000011332	ENSG00000011332		"Zinc fingers, PHD-type"	20225	protein-coding gene	gene with protein product		601670				8812431	Standard	XM_005259288		Approved	neuro-d4, NEUD4, BAF45b	uc002ohm.3	Q92782	OTTHUMG00000157164	ENST00000420980.2:c.864A>G	chr19.hg19:g.38704380T>C			B3KSY8|Q08AJ0	Silent	SNP	ENST00000420980.2	hg19	CCDS33008.2	.	.	.	.	.	.	.	.	.	.	T	9.663	1.144758	0.21288	.	.	ENSG00000011332	ENST00000355526	.	.	.	4.04	1.9	0.25705	.	.	.	.	.	T	0.51176	0.1659	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35724	-0.9777	4	.	.	.	0.8287	4.4001	0.11383	0.0:0.1899:0.1719:0.6382	.	.	.	.	A	325	.	.	T	-	1	0	DPF1	43396220	1.000000	0.71417	0.999000	0.59377	0.965000	0.64279	1.619000	0.36965	0.135000	0.18707	0.369000	0.22263	ACA		0.637	DPF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347721.1			C	38704380	T	C	38704380	2	2	658	1	0	0	0	0	0	0	0	1	4718	1635	57	3		3	DPF1	19	38704380	Silent	SNP	T	TCGA-G7-A8LE-01A-11D-A35Z-10	29742420	38704380	20424603	67	35816											
CACNG8	59283	hgsc.bcm.edu	37	19	54485656	54485656	+	Missense_Mutation	SNP	C	C	G			TCGA-G7-A8LE-01A-11D-A35Z-10	TCGA-G7-A8LE-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f304b920-e25e-445a-b834-d54c241d029b	e8d9c96d-cf86-4b29-ba93-23c5e8b4bd28	g.chr19:54485656C>G	ENST00000270458.2	+	4	934	c.831C>G	c.(829-831)agC>agG	p.S277R	MIR935_ENST00000401179.1_RNA	NM_031895.5	NP_114101	Q8WXS5	CCG8_HUMAN	calcium channel, voltage-dependent, gamma subunit 8	277	Gly-rich.				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)		CCCGCTCTAGCTCCCGCTCCA	0.766																																																0													1	2	2					19																	54485656		1151	2686	3837	SO:0001583	missense	59283			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.831C>G	chr19.hg19:g.54485656C>G	ENSP00000270458:p.Ser277Arg		Q9BXT0|Q9BY23	Missense_Mutation	SNP	ENST00000270458.2	hg19	CCDS33104.1	.	.	.	.	.	.	.	.	.	.	.	16.54	3.152958	0.57259	.	.	ENSG00000142408	ENST00000270458	T	0.53206	0.63	2.34	2.34	0.29019	.	0.139963	0.43110	U	0.000614	T	0.51873	0.1700	M	0.66297	2.02	0.33300	D	0.564723	D	0.59357	0.985	P	0.54889	0.763	T	0.61068	-0.7137	9	0.42905	T	0.14	.	5.3399	0.15979	0.0:0.8181:0.0:0.1819	.	277	Q8WXS5	CCG8_HUMAN	R	277	ENSP00000270458:S277R	ENSP00000270458:S277R	S	+	3	2	CACNG8	59177468	0.976000	0.34144	0.998000	0.56505	0.938000	0.57974	0.117000	0.15583	0.998000	0.38996	0.281000	0.19383	AGC		0.766	CACNG8-001	KNOWN	non_ATG_start|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139361.3			G	54485656	C	G	54485656	3	3	658	1	0	0	0	0	1	0	0	0	2565	796	28	4	845	4	CACNG8	19	54485656	Missense_Mutation	SNP	C	TCGA-G7-A8LE-01A-11D-A35Z-10	15781276	54485656	4643327	68	35817											
ZNF582	147948	hgsc.bcm.edu	37	19	56896344	56896344	+	Missense_Mutation	SNP	C	C	G			TCGA-G7-A8LE-01A-11D-A35Z-10	TCGA-G7-A8LE-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f304b920-e25e-445a-b834-d54c241d029b	e8d9c96d-cf86-4b29-ba93-23c5e8b4bd28	g.chr19:56896344C>G	ENST00000301310.4	-	5	600	c.442G>C	c.(442-444)Gaa>Caa	p.E148Q	ZNF582_ENST00000586929.1_Missense_Mutation_p.E148Q|AC006116.12_ENST00000589671.1_RNA	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	148					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		GTGGGCATTTCTTCATGTCTG	0.373																																					Ovarian(183;1887 2032 4349 30507 51343)											0													150	148	149					19																	56896344		2203	4300	6503	SO:0001583	missense	147948			AK055489	CCDS33121.1	19q13.43	2013-07-15			ENSG00000018869	ENSG00000018869		"Zinc fingers, C2H2-type", "-"	26421	protein-coding gene	gene with protein product		615600				12477932	Standard	NM_144690		Approved	FLJ30927	uc002qmz.1	Q96NG8	OTTHUMG00000181939	ENST00000301310.4:c.442G>C	chr19.hg19:g.56896344C>G	ENSP00000301310:p.Glu148Gln		B4DQZ9|B7Z9R3|Q6PJT6	Missense_Mutation	SNP	ENST00000301310.4	hg19	CCDS33121.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.741982	0.49151	.	.	ENSG00000018869	ENST00000301310	T	0.06218	3.33	4.23	0.936	0.19488	.	0.214881	0.23477	N	0.047757	T	0.03053	0.0090	L	0.28054	0.825	0.09310	N	1	P;P	0.44877	0.845;0.845	B;B	0.36719	0.169;0.231	T	0.43653	-0.9378	10	0.15499	T	0.54	.	4.4024	0.11393	0.1595:0.5801:0.0:0.2603	.	148;179	Q96NG8;B4DQZ9	ZN582_HUMAN;.	Q	148	ENSP00000301310:E148Q	ENSP00000301310:E148Q	E	-	1	0	ZNF582	61588156	0.668000	0.27493	0.003000	0.11579	0.259000	0.26198	0.385000	0.20685	0.318000	0.23185	-0.282000	0.10007	GAA		0.373	ZNF582-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458387.2	NM_144690		G	56896344	C	G	56896344	3	3	658	1	0	0	0	0	1	0	0	0	18019	922	32	4	1115	4	ZNF582	19	56896344	Missense_Mutation	SNP	C	TCGA-G7-A8LE-01A-11D-A35Z-10	2410688	56896344	2232639	69	35818											
JAG1	182	hgsc.bcm.edu	37	20	10620302	10620302	+	Frame_Shift_Del	DEL	T	T	-			TCGA-G7-A8LE-01A-11D-A35Z-10	TCGA-G7-A8LE-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f304b920-e25e-445a-b834-d54c241d029b	e8d9c96d-cf86-4b29-ba93-23c5e8b4bd28	g.chr20:10620302delT	ENST00000254958.5	-	26	4016	c.3501delA	c.(3499-3501)aaafs	p.K1167fs	JAG1_ENST00000423891.2_Frame_Shift_Del_p.K1008fs	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	1167					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						CAAACCGGGCTTTCTGCTGGT	0.493									Alagille Syndrome																																							0													174	175	175					20																	10620302		2203	4300	6503	SO:0001589	frameshift_variant	182	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	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.3501delA	chr20.hg19:g.10620302delT	ENSP00000254958:p.Lys1167fs		A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Frame_Shift_Del	DEL	ENST00000254958.5	hg19	CCDS13112.1																																																																																				0.493	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214		-	10620302	T	-	10620302	7	5	658	1	0	1	0	1	0	0	0	0	7936	1606	56	0	159	0	JAG1	20	10620302	Frame_Shift_Del	DEL	T	TCGA-G7-A8LE-01A-11D-A35Z-10		10620302	52405218	70	35819											
ABHD12	26090	hgsc.bcm.edu	37	20	25282895	25282895	+	Missense_Mutation	SNP	T	T	C			TCGA-G7-A8LE-01A-11D-A35Z-10	TCGA-G7-A8LE-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f304b920-e25e-445a-b834-d54c241d029b	e8d9c96d-cf86-4b29-ba93-23c5e8b4bd28	g.chr20:25282895T>C	ENST00000339157.5	-	12	1389	c.1117A>G	c.(1117-1119)Aaa>Gaa	p.K373E	ABHD12_ENST00000376542.3_Missense_Mutation_p.K373E	NM_001042472.2	NP_001035937.1	Q8N2K0	ABD12_HUMAN	abhydrolase domain containing 12	373					adult walking behavior (GO:0007628)|phosphatidylserine catabolic process (GO:0006660)|response to auditory stimulus (GO:0010996)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)	acylglycerol lipase activity (GO:0047372)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	12						TAAATGTATTTGTGCCTGTAG	0.537																																																0													132	118	122					20																	25282895		2203	4300	6503	SO:0001583	missense	26090			AL117442	CCDS13172.1, CCDS42857.1	20p11.21	2007-04-24	2006-03-10	2006-03-10	ENSG00000100997	ENSG00000100997		"Abhydrolase domain containing"	15868	protein-coding gene	gene with protein product		613599	"chromosome 20 open reading frame 22"	C20orf22			Standard	NM_015600		Approved	DKFZP434P106, dJ965G21.2, BEM46L2, ABHD12A	uc002wuq.3	Q8N2K0	OTTHUMG00000032121	ENST00000339157.5:c.1117A>G	chr20.hg19:g.25282895T>C	ENSP00000341408:p.Lys373Glu		A6NED4|A6NJ90|A8K450|B4DE71|Q5T710|Q5T711|Q96CR1|Q9BX05|Q9NPX7|Q9UFV6	Missense_Mutation	SNP	ENST00000339157.5	hg19	CCDS42857.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.416495	0.83449	.	.	ENSG00000100997	ENST00000376542;ENST00000339157;ENST00000526543	T;T	0.19938	2.11;2.11	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.42720	0.1215	M	0.75264	2.295	0.80722	D	1	P;D;D	0.71674	0.745;0.996;0.998	P;P;D	0.63283	0.475;0.82;0.913	T	0.26121	-1.0112	10	0.30854	T	0.27	-20.5607	14.6085	0.68498	0.0:0.0:0.0:1.0	.	335;373;373	Q8N2K0-3;Q8N2K0;Q8N2K0-2	.;ABD12_HUMAN;.	E	373;373;335	ENSP00000365725:K373E;ENSP00000341408:K373E	ENSP00000341408:K373E	K	-	1	0	ABHD12	25230895	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	7.218000	0.77991	2.116000	0.64780	0.459000	0.35465	AAA		0.537	ABHD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078423.2	NM_015600		C	25282895	T	C	25282895	3	2	658	1	0	0	0	0	1	0	0	0	76	1821	63	3	149	3	ABHD12	20	25282895	Missense_Mutation	SNP	T	TCGA-G7-A8LE-01A-11D-A35Z-10	14662593	25282895	37742625	71	35820											
C22orf29	79680	hgsc.bcm.edu	37	22	19839753	19839753	+	Missense_Mutation	SNP	G	G	T			TCGA-G7-A8LE-01A-11D-A35Z-10	TCGA-G7-A8LE-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f304b920-e25e-445a-b834-d54c241d029b	e8d9c96d-cf86-4b29-ba93-23c5e8b4bd28	g.chr22:19839753G>T	ENST00000405640.1	-	2	700	c.32C>A	c.(31-33)cCt>cAt	p.P11H	GNB1L_ENST00000329517.6_Intron|C22orf29_ENST00000407472.1_Missense_Mutation_p.P11H|GNB1L_ENST00000405009.1_Intron|GNB1L_ENST00000460402.1_Intron|C22orf29_ENST00000484072.1_Intron|C22orf29_ENST00000328554.4_Missense_Mutation_p.P11H|GNB1L_ENST00000403325.1_Intron			Q7L3V2	BOP_HUMAN	chromosome 22 open reading frame 29	11					mitochondrial outer membrane permeabilization (GO:0097345)|regulation of mitochondrial membrane potential (GO:0051881)	mitochondrion (GO:0005739)				NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7	Colorectal(54;0.0993)					GGGAATGCGAGGGCCCTGCTG	0.637																																																0													55	55	55					22																	19839753		2203	4298	6501	SO:0001583	missense	79680			BX640998	CCDS13769.1	22q11.21	2006-07-05			ENSG00000215012	ENSG00000215012			26112	protein-coding gene	gene with protein product						12477932	Standard	NM_024627		Approved	FLJ21125	uc002zqh.3	Q7L3V2	OTTHUMG00000030314	ENST00000405640.1:c.32C>A	chr22.hg19:g.19839753G>T	ENSP00000384924:p.Pro11His		A8K5E7|D3DX21|Q6MZM8|Q6N000|Q9H7A0	Missense_Mutation	SNP	ENST00000405640.1	hg19	CCDS13769.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.291328	0.40494	.	.	ENSG00000215012	ENST00000407472;ENST00000328554;ENST00000405640;ENST00000416337	T;T;T;T	0.31769	1.48;1.48;1.48;1.48	3.69	3.69	0.42338	.	.	.	.	.	T	0.33323	0.0859	N	0.08118	0	0.23221	N	0.998095	D	0.89917	1.0	D	0.72625	0.978	T	0.18745	-1.0327	9	0.72032	D	0.01	-8.3753	11.2466	0.49000	0.0:0.0:1.0:0.0	.	11	Q7L3V2	CV029_HUMAN	H	11	ENSP00000386111:P11H;ENSP00000330596:P11H;ENSP00000384924:P11H;ENSP00000392994:P11H	ENSP00000330596:P11H	P	-	2	0	C22orf29	18219753	0.103000	0.21917	0.544000	0.28141	0.013000	0.08279	0.397000	0.20883	2.358000	0.79984	0.655000	0.94253	CCT		0.637	C22orf29-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317290.2	NM_024627		T	19839753	G	T	19839753	3	4	658	1	0	0	0	0	1	0	0	0	2143	1000	35	4	1066	4	C22orf29	22	19839753	Missense_Mutation	SNP	G	TCGA-G7-A8LE-01A-11D-A35Z-10		19839753	31464813	72	35821											
SSTR3	6753	hgsc.bcm.edu	37	22	37603060	37603060	+	Silent	SNP	G	G	T	rs144127697		TCGA-G7-A8LE-01A-11D-A35Z-10	TCGA-G7-A8LE-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f304b920-e25e-445a-b834-d54c241d029b	e8d9c96d-cf86-4b29-ba93-23c5e8b4bd28	g.chr22:37603060G>T	ENST00000328544.3	-	2	1316	c.783C>A	c.(781-783)gcC>gcA	p.A261A	SSTR3_ENST00000402501.1_Silent_p.A261A	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	261					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)	GCGCCACCACGGCCACCACCA	0.672																																																0													70	57	61					22																	37603060		2203	4300	6503	SO:0001819	synonymous_variant	6753				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.783C>A	chr22.hg19:g.37603060G>T			A8K550|Q53ZR7	Silent	SNP	ENST00000328544.3	hg19	CCDS13944.1																																																																																				0.672	SSTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318802.1			T	37603060	G	T	37603060	2	4	658	1	0	0	0	0	0	0	0	1	15204	1103	39	4		4	SSTR3	22	37603060	Silent	SNP	G	TCGA-G7-A8LE-01A-11D-A35Z-10	17763307	37603060	13701506	73	35822											
HCFC1	3054	hgsc.bcm.edu	37	X	153216893	153216893	+	Missense_Mutation	SNP	C	C	G			TCGA-G7-A8LE-01A-11D-A35Z-10	TCGA-G7-A8LE-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f304b920-e25e-445a-b834-d54c241d029b	e8d9c96d-cf86-4b29-ba93-23c5e8b4bd28	g.chrX:153216893C>G	ENST00000310441.7	-	22	6391	c.5425G>C	c.(5425-5427)Gaa>Caa	p.E1809Q	HCFC1_ENST00000354233.3_Missense_Mutation_p.E1740Q|HCFC1_ENST00000369984.4_Missense_Mutation_p.E1854Q	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	1809	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CACTGGTTTTCCTTCTTCATG	0.542																																																0													217	225	222					X																	153216893		2051	4175	6226	SO:0001583	missense	3054				CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"VP16-accessory protein", "protein phosphatase 1, regulatory subunit 89"	300019	"mental retardation, X-linked 3", "host cell factor C1 (VP16-accessory protein)"	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.5425G>C	chrX.hg19:g.153216893C>G	ENSP00000309555:p.Glu1809Gln		Q6P4G5	Missense_Mutation	SNP	ENST00000310441.7	hg19	CCDS44020.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.10|19.10	3.761895|3.761895	0.69763|0.69763	.|.	.|.	ENSG00000172534|ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233|ENST00000444191	T;T;T|.	0.03689|.	3.84;3.85;3.85|.	5.55|5.55	5.55|5.55	0.83447|0.83447	Fibronectin, type III (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74114|0.74114	0.3674|0.3674	M|M	0.68952|0.68952	2.095|2.095	0.47374|0.47374	D|D	0.999402|0.999402	D|.	0.64830|.	0.994|.	P|.	0.56960|.	0.81|.	T|T	0.73244|0.73244	-0.4044|-0.4044	10|5	0.41790|.	T|.	0.15|.	.|.	17.327|17.327	0.87251|0.87251	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1809|.	P51610|.	HCFC1_HUMAN|.	Q|A	1809;1854;1740|384	ENSP00000309555:E1809Q;ENSP00000359001:E1854Q;ENSP00000346174:E1740Q|.	ENSP00000309555:E1809Q|.	E|G	-|-	1|2	0|0	HCFC1|HCFC1	152870087|152870087	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.703000|0.703000	0.40648|0.40648	7.328000|7.328000	0.79160|0.79160	2.359000|2.359000	0.80004|0.80004	0.525000|0.525000	0.51046|0.51046	GAA|GGA		0.542	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		G	153216893	C	G	153216893	3	3	658	1	0	0	0	0	1	0	0	0	6993	864	30	4	702	4	HCFC1	23	153216893	Missense_Mutation	SNP	C	TCGA-G7-A8LE-01A-11D-A35Z-10		153216893	2053667	74	35823											
EPHB2	2048	hgsc.bcm.edu	37	1	23234542	23234542	+	Missense_Mutation	SNP	C	C	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr1:23234542C>A	ENST00000400191.3	+	12	2251	c.2233C>A	c.(2233-2235)Cgt>Agt	p.R745S	EPHB2_ENST00000374627.1_Missense_Mutation_p.R740S|EPHB2_ENST00000374632.3_Missense_Mutation_p.R746S|EPHB2_ENST00000374630.3_Missense_Mutation_p.R745S	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	745	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)	p.R745C(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CTATGTTCACCGTGACCTGGC	0.557																																																1	Substitution - Missense(1)	stomach(1)											188	166	173					1																	23234542		2203	4300	6503	SO:0001583	missense	2048			AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3393	protein-coding gene	gene with protein product		600997	"EphB2"	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.2233C>A	chr1.hg19:g.23234542C>A	ENSP00000383053:p.Arg745Ser		O43477|Q5T0U6|Q5T0U7|Q5T0U8	Missense_Mutation	SNP	ENST00000400191.3	hg19		.	.	.	.	.	.	.	.	.	.	C	25.9	4.681019	0.88542	.	.	ENSG00000133216	ENST00000374625;ENST00000374630;ENST00000400191;ENST00000374632;ENST00000374627	T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88	5.32	4.37	0.52481	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	0.89643	0.6774	H	0.95504	3.68	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	0.91974	0.5589	10	0.87932	D	0	.	14.3622	0.66779	0.1478:0.8522:0.0:0.0	.	687;745;763;746	A6NJM0;P29323;Q4LE53;P29323-3	.;EPHB2_HUMAN;.;.	S	687;745;745;746;740	ENSP00000363761:R745S;ENSP00000383053:R745S;ENSP00000363763:R746S;ENSP00000363758:R740S	ENSP00000363755:R687S	R	+	1	0	EPHB2	23107129	1.000000	0.71417	0.997000	0.53966	0.870000	0.49936	5.909000	0.69923	2.778000	0.95560	0.650000	0.86243	CGT		0.557	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	NM_017449		A	23234542	C	A	23234542	3	1	659	1	0	0	0	0	1	0	0	0	5177	652	23	4	2282	4	EPHB2	1	23234542	Missense_Mutation	SNP	C	TCGA-GL-6846-01A-11D-1961-08		23234542	226016079	1	35824											
AGL	178	hgsc.bcm.edu	37	1	100346675	100346675	+	Missense_Mutation	SNP	C	C	G			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr1:100346675C>G	ENST00000294724.4	+	15	2421	c.1943C>G	c.(1942-1944)tCt>tGt	p.S648C	AGL_ENST00000361302.3_Missense_Mutation_p.S632C|AGL_ENST00000370165.3_Missense_Mutation_p.S648C|AGL_ENST00000361522.4_Missense_Mutation_p.S631C|AGL_ENST00000370163.3_Missense_Mutation_p.S648C|AGL_ENST00000370161.2_Missense_Mutation_p.S632C|AGL_ENST00000361915.3_Missense_Mutation_p.S648C	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	648					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)		ACAATTGTTTCTATGGCATGT	0.368																																																0													180	165	170					1																	100346675		2203	4300	6503	SO:0001583	missense	178			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.1943C>G	chr1.hg19:g.100346675C>G	ENSP00000294724:p.Ser648Cys		A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	ENST00000294724.4	hg19	CCDS759.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.355191	0.41700	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	D;D;D;D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86	6.01	6.01	0.97437	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.049923	0.85682	D	0.000000	D	0.89681	0.6785	M	0.62723	1.935	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.72625	0.978;0.978;0.95	D	0.90138	0.4211	10	0.87932	D	0	.	15.6295	0.76893	0.0:0.9327:0.0:0.0673	.	631;632;648	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	C	648;648;648;648;632;632;631	ENSP00000355106:S648C;ENSP00000359184:S648C;ENSP00000359182:S648C;ENSP00000294724:S648C;ENSP00000354971:S632C;ENSP00000359180:S632C;ENSP00000354635:S631C	ENSP00000294724:S648C	S	+	2	0	AGL	100119263	1.000000	0.71417	0.805000	0.32314	0.062000	0.15995	5.550000	0.67268	2.850000	0.98022	0.655000	0.94253	TCT		0.368	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		G	100346675	C	G	100346675	3	3	659	1	0	0	0	0	1	0	0	0	384	913	32	4	2066	4	AGL	1	100346675	Missense_Mutation	SNP	C	TCGA-GL-6846-01A-11D-1961-08	77112133	100346675	148903946	2	35825											
BAT2L2	23215	hgsc.bcm.edu	37	1	171535917	171535917	+	Missense_Mutation	SNP	G	G	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr1:171535917G>A	ENST00000338920.4	+	22	6724	c.6487G>A	c.(6487-6489)Gaa>Aaa	p.E2163K	PRRC2C_ENST00000426496.2_Missense_Mutation_p.E2163K|PRRC2C_ENST00000367742.3_Missense_Mutation_p.E2165K|PRRC2C_ENST00000392078.3_Missense_Mutation_p.E2165K	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	2163					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										AGCAGTCTCAGAAATGTCTAC	0.448																																																0													77	69	71					1																	171535917		2203	4300	6503	SO:0001583	missense	23215			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.6487G>A	chr1.hg19:g.171535917G>A	ENSP00000343629:p.Glu2163Lys		Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	ENST00000338920.4	hg19	CCDS1296.2	.	.	.	.	.	.	.	.	.	.	G	18.45	3.627687	0.66901	.	.	ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080	T;T;T;T	0.03124	4.25;4.04;4.27;4.27	5.6	5.6	0.85130	.	0.000000	0.46145	D	0.000303	T	0.10551	0.0258	L	0.59436	1.845	0.58432	D	0.999995	D	0.89917	1.0	D	0.85130	0.997	T	0.12372	-1.0550	10	0.36615	T	0.2	.	19.6251	0.95674	0.0:0.0:1.0:0.0	.	2163	Q9Y520-4	.	K	2165;2117;2163;2165;2163;1920	ENSP00000375928:E2165K;ENSP00000410219:E2163K;ENSP00000356716:E2165K;ENSP00000343629:E2163K	ENSP00000343629:E2163K	E	+	1	0	PRRC2C	169802541	1.000000	0.71417	0.992000	0.48379	0.510000	0.34073	9.236000	0.95360	2.636000	0.89361	0.655000	0.94253	GAA		0.448	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		A	171535917	G	A	171535917	3	1	659	1	0	0	0	0	1	0	0	0	1321	943	33	2	6569	2	BAT2L2	1	171535917	Missense_Mutation	SNP	G	TCGA-GL-6846-01A-11D-1961-08	71189242	171535917	77714704	3	35826											
AGT	183	hgsc.bcm.edu	37	1	230841797	230841797	+	Missense_Mutation	SNP	A	A	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr1:230841797A>T	ENST00000366667.4	-	3	1220	c.1006T>A	c.(1006-1008)Ttc>Atc	p.F336I		NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	336					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)		CTCTCAGTGAAGGGCACTTGA	0.562																																																0													110	104	106					1																	230841797		2203	4300	6503	SO:0001583	missense	183			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.1006T>A	chr1.hg19:g.230841797A>T	ENSP00000355627:p.Phe336Ile		Q16358|Q16359|Q96F91	Missense_Mutation	SNP	ENST00000366667.4	hg19	CCDS1585.1	.	.	.	.	.	.	.	.	.	.	A	8.200	0.797970	0.16327	.	.	ENSG00000135744	ENST00000366667;ENST00000430091	D	0.84800	-1.9	5.17	-4.42	0.03579	Serpin domain (3);	0.408163	0.24752	N	0.035897	T	0.66005	0.2746	N	0.14661	0.345	0.09310	N	1	B;B;B	0.26258	0.094;0.145;0.094	B;B;B	0.25140	0.044;0.058;0.044	T	0.54556	-0.8276	10	0.34782	T	0.22	.	7.5483	0.27781	0.1397:0.142:0.6158:0.1025	.	336;336;336	B0ZBE2;B2R5S1;P01019	.;.;ANGT_HUMAN	I	336;254	ENSP00000355627:F336I	ENSP00000355627:F336I	F	-	1	0	AGT	228908420	0.002000	0.14202	0.012000	0.15200	0.007000	0.05969	-0.319000	0.08039	-0.831000	0.04256	-0.250000	0.11733	TTC		0.562	AGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092102.1	NM_000029		T	230841797	A	T	230841797	3	4	659	1	0	0	0	0	1	0	0	0	399	72	3	5	463	5	AGT	1	230841797	Missense_Mutation	SNP	A	TCGA-GL-6846-01A-11D-1961-08	59305880	230841797	18408824	4	35827											
PUM2	23369	hgsc.bcm.edu	37	2	20518349	20518349	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr2:20518349C>T	ENST00000361078.2	-	2	131	c.109G>A	c.(109-111)Ggc>Agc	p.G37S	PUM2_ENST00000536417.1_Intron|PUM2_ENST00000319801.5_Missense_Mutation_p.G37S|PUM2_ENST00000338086.5_Missense_Mutation_p.G37S|PUM2_ENST00000420234.1_5'UTR|PUM2_ENST00000403432.1_Missense_Mutation_p.G37S			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	37	Interaction with SNAPIN.				regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAAATATGCCTTTTTGTCCA	0.338																																																0													142	131	135					2																	20518349		2203	4300	6503	SO:0001583	missense	23369			AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"pumilio (Drosphila) homolog 2", "pumilio homolog 2 (Drosophila)"			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.109G>A	chr2.hg19:g.20518349C>T	ENSP00000354370:p.Gly37Ser		B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Missense_Mutation	SNP	ENST00000361078.2	hg19		.	.	.	.	.	.	.	.	.	.	C	16.75	3.210343	0.58343	.	.	ENSG00000055917	ENST00000338086;ENST00000361078;ENST00000319801;ENST00000403432;ENST00000442400	T;T;T;T	0.21031	2.03;2.31;2.21;2.03	5.74	0.167	0.15006	.	0.151206	0.64402	N	0.000016	T	0.17152	0.0412	L	0.49350	1.555	0.80722	D	1	B;B	0.20459	0.0;0.045	B;B	0.20184	0.001;0.028	T	0.05500	-1.0881	10	0.54805	T	0.06	-0.9827	7.59	0.28015	0.1096:0.6213:0.0:0.2691	.	37;37	B7ZL34;Q8TB72-3	.;.	S	37	ENSP00000338173:G37S;ENSP00000354370:G37S;ENSP00000326746:G37S;ENSP00000385992:G37S	ENSP00000326746:G37S	G	-	1	0	PUM2	20381830	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	3.338000	0.52128	0.071000	0.16664	-0.948000	0.02665	GGC		0.338	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015317		T	20518349	C	T	20518349	3	4	659	1	0	0	0	0	1	0	0	0	12832	681	24	2	3161	2	PUM2	2	20518349	Missense_Mutation	SNP	C	TCGA-GL-6846-01A-11D-1961-08		20518349	222681024	5	35828											
ANKRD44	91526	hgsc.bcm.edu	37	2	197986231	197986231	+	Missense_Mutation	SNP	T	T	C			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr2:197986231T>C	ENST00000328737.2	-	8	732	c.656A>G	c.(655-657)cAc>cGc	p.H219R	ANKRD44_ENST00000539527.1_Missense_Mutation_p.H172R|ANKRD44_ENST00000409153.1_Missense_Mutation_p.H244R|ANKRD44_ENST00000450567.1_Missense_Mutation_p.H219R|ANKRD44_ENST00000337207.5_Missense_Mutation_p.H219R|ANKRD44_ENST00000282272.8_Missense_Mutation_p.H236R|ANKRD44_ENST00000409919.1_Missense_Mutation_p.H244R			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	244										NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GCAGGCGATGTGAAGCGCTGT	0.433																																																0													155	117	130					2																	197986231		2203	4300	6503	SO:0001583	missense	91526			AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	25259	protein-coding gene	gene with protein product	"protein phosphatase 6 ankyrin repeat subunit B"						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.656A>G	chr2.hg19:g.197986231T>C	ENSP00000331516:p.His219Arg		Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Missense_Mutation	SNP	ENST00000328737.2	hg19		.	.	.	.	.	.	.	.	.	.	T	22.1	4.245633	0.80024	.	.	ENSG00000065413	ENST00000424317;ENST00000282272;ENST00000328737;ENST00000450567;ENST00000337207;ENST00000409153;ENST00000539527;ENST00000409919	T;T;T;T;T;T;T;T	0.79554	-0.56;-0.56;-1.28;-1.28;-1.28;-0.56;-1.28;-1.28	5.14	5.14	0.70334	.	0.105903	0.64402	D	0.000004	D	0.90287	0.6962	M	0.85630	2.765	0.58432	D	0.999999	D;D	0.89917	1.0;0.99	D;D	0.81914	0.995;0.968	D	0.91903	0.5533	10	0.87932	D	0	.	15.4162	0.74970	0.0:0.0:0.0:1.0	.	172;244	F5H682;Q8N8A2-3	.;.	R	41;236;219;219;219;244;172;244	ENSP00000403415:H41R;ENSP00000282272:H236R;ENSP00000331516:H219R;ENSP00000402420:H219R;ENSP00000338794:H219R;ENSP00000387141:H244R;ENSP00000437825:H172R;ENSP00000387233:H244R	ENSP00000282272:H236R	H	-	2	0	ANKRD44	197694476	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	7.825000	0.86693	2.285000	0.76669	0.533000	0.62120	CAC		0.433	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	NM_153697		C	197986231	T	C	197986231	3	2	659	1	0	0	0	0	1	0	0	0	672	1696	59	3	2179	3	ANKRD44	2	197986231	Missense_Mutation	SNP	T	TCGA-GL-6846-01A-11D-1961-08	177467882	197986231	45213142	6	35829											
FZD5	7855	hgsc.bcm.edu	37	2	208632800	208632800	+	Missense_Mutation	SNP	A	A	G			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr2:208632800A>G	ENST00000295417.3	-	2	1217	c.664T>C	c.(664-666)Tgc>Cgc	p.C222R		NM_003468.3	NP_003459.2	Q13467	FZD5_HUMAN	frizzled class receptor 5	222					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)		GGCTGGTAGCAGGGTACCGCG	0.632																																																0													54	52	52					2																	208632800		2203	4300	6503	SO:0001583	missense	7855			U43318	CCDS33366.1	2q33.3	2014-01-29	2014-01-29		ENSG00000163251	ENSG00000163251		"GPCR / Class F : Frizzled receptors"	4043	protein-coding gene	gene with protein product		601723	"frizzled (Drosophila) homolog 5", "chromosome 2 open reading frame 31", "frizzled homolog 5 (Drosophila)", "frizzled 5, seven transmembrane spanning receptor", "frizzled family receptor 5"	C2orf31		8626800, 11408929	Standard	NM_003468		Approved	HFZ5, DKFZP434E2135	uc002vcj.3	Q13467	OTTHUMG00000154790	ENST00000295417.3:c.664T>C	chr2.hg19:g.208632800A>G	ENSP00000354607:p.Cys222Arg		A8K2X1|B2RCZ1|Q53R22	Missense_Mutation	SNP	ENST00000295417.3	hg19	CCDS33366.1	.	.	.	.	.	.	.	.	.	.	A	18.80	3.701621	0.68501	.	.	ENSG00000163251	ENST00000295417	D	0.90197	-2.63	5.05	5.05	0.67936	.	0.051032	0.85682	D	0.000000	D	0.94706	0.8292	M	0.74647	2.275	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	D	0.95299	0.8402	10	0.87932	D	0	.	14.4703	0.67512	1.0:0.0:0.0:0.0	.	222	Q13467	FZD5_HUMAN	R	222	ENSP00000354607:C222R	ENSP00000354607:C222R	C	-	1	0	FZD5	208341045	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.339000	0.96797	1.908000	0.55244	0.459000	0.35465	TGC		0.632	FZD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337060.1	NM_003468		G	208632800	A	G	208632800	3	3	659	1	0	0	0	0	1	0	0	0	6135	188	7	3	1097	3	FZD5	2	208632800	Missense_Mutation	SNP	A	TCGA-GL-6846-01A-11D-1961-08	10646569	208632800	34566573	7	35830											
CCDC13	152206	hgsc.bcm.edu	37	3	42777251	42777251	+	Missense_Mutation	SNP	C	C	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr3:42777251C>A	ENST00000310232.6	-	10	1402	c.1319G>T	c.(1318-1320)cGg>cTg	p.R440L	CCDC13-AS1_ENST00000446950.1_RNA|CCDC13-AS1_ENST00000418161.1_RNA	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	440										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						TTTGGCCTCCCGCTCAGCTAC	0.602																																																0													119	104	109					3																	42777251		2203	4300	6503	SO:0001583	missense	152206			AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607			26358	protein-coding gene	gene with protein product						12477932	Standard	NM_144719		Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.1319G>T	chr3.hg19:g.42777251C>A	ENSP00000309836:p.Arg440Leu			Missense_Mutation	SNP	ENST00000310232.6	hg19	CCDS2705.1	.	.	.	.	.	.	.	.	.	.	C	18.80	3.700694	0.68501	.	.	ENSG00000244607	ENST00000310232	T	0.27720	1.65	5.03	5.03	0.67393	.	0.085006	0.47852	D	0.000217	T	0.55353	0.1915	M	0.75447	2.3	0.38311	D	0.943263	D	0.89917	1.0	D	0.76071	0.987	T	0.57207	-0.7851	10	0.30078	T	0.28	.	17.144	0.86761	0.0:1.0:0.0:0.0	.	440	Q8IYE1	CCD13_HUMAN	L	440	ENSP00000309836:R440L	ENSP00000309836:R440L	R	-	2	0	CCDC13	42752255	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.131000	0.57970	2.345000	0.79718	0.511000	0.50034	CGG		0.602	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256652.1	NM_144719		A	42777251	C	A	42777251	3	1	659	1	0	0	0	0	1	0	0	0	2767	652	23	4	856	4	CCDC13	3	42777251	Missense_Mutation	SNP	C	TCGA-GL-6846-01A-11D-1961-08		42777251	155245179	8	35831											
ALS2CL	259173	hgsc.bcm.edu	37	3	46713506	46713506	+	Missense_Mutation	SNP	C	C	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr3:46713506C>A	ENST00000318962.4	-	24	2635	c.2552G>T	c.(2551-2553)cGg>cTg	p.R851L	ALS2CL_ENST00000415953.1_Missense_Mutation_p.R851L|ALS2CL_ENST00000383742.3_Missense_Mutation_p.R198L	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	851	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				endosome organization (GO:0007032)|protein localization (GO:0008104)	cytoplasmic membrane-bounded vesicle (GO:0016023)	GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		CAGCTTCTCCCGTGGGTCCAC	0.642																																																0													96	89	92					3																	46713506		2203	4300	6503	SO:0001583	missense	259173			AK074118	CCDS2743.1, CCDS43080.1	3p21.31	2008-01-30			ENSG00000178038	ENSG00000178038			20605	protein-coding gene	gene with protein product		612402				15388334, 8889548, 17239822	Standard	NM_147129		Approved	FLJ36525, RN49018, DKFZp686I0110	uc003cqb.2	Q60I27	OTTHUMG00000128673	ENST00000318962.4:c.2552G>T	chr3.hg19:g.46713506C>A	ENSP00000313670:p.Arg851Leu		Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7	Missense_Mutation	SNP	ENST00000318962.4	hg19	CCDS2743.1	.	.	.	.	.	.	.	.	.	.	C	18.61	3.660329	0.67586	.	.	ENSG00000178038	ENST00000318962;ENST00000415953;ENST00000383742	T;T;T	0.31510	1.49;1.49;1.49	5.29	5.29	0.74685	Vacuolar sorting protein 9 (2);	0.248448	0.27415	N	0.019472	T	0.27524	0.0676	N	0.22421	0.69	0.32113	N	0.589045	P	0.45283	0.855	P	0.48304	0.573	T	0.28138	-1.0053	10	0.51188	T	0.08	.	9.9532	0.41651	0.0:0.9073:0.0:0.0927	.	851	Q60I27	AL2CL_HUMAN	L	851;851;198	ENSP00000313670:R851L;ENSP00000413223:R851L;ENSP00000373248:R198L	ENSP00000313670:R851L	R	-	2	0	ALS2CL	46688510	0.665000	0.27466	0.923000	0.36655	0.988000	0.76386	2.220000	0.42908	2.465000	0.83290	0.650000	0.86243	CGG		0.642	ALS2CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250567.3	NM_147129		A	46713506	C	A	46713506	3	1	659	1	0	0	0	0	1	0	0	0	551	652	23	4	321	4	ALS2CL	3	46713506	Missense_Mutation	SNP	C	TCGA-GL-6846-01A-11D-1961-08	3936255	46713506	151308924	9	35832											
KIAA1407	57577	hgsc.bcm.edu	37	3	113721375	113721375	+	Missense_Mutation	SNP	C	C	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr3:113721375C>A	ENST00000295878.3	-	12	2135	c.1989G>T	c.(1987-1989)gaG>gaT	p.E663D	KIAA1407_ENST00000545063.1_3'UTR	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	663										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						GAATTGCTCTCTCTTCCATAG	0.318																																																0													90	83	86					3																	113721375		2202	4299	6501	SO:0001583	missense	57577			AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.1989G>T	chr3.hg19:g.113721375C>A	ENSP00000295878:p.Glu663Asp		B4DYL1|Q9P2E0	Missense_Mutation	SNP	ENST00000295878.3	hg19	CCDS2977.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.887102	0.33348	.	.	ENSG00000163617	ENST00000295878	T	0.35048	1.33	5.35	4.48	0.54585	.	1.585750	0.04130	N	0.317747	T	0.61299	0.2336	M	0.71581	2.175	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	T	0.35101	-0.9802	10	0.59425	D	0.04	.	9.6228	0.39732	0.0:0.8395:0.0:0.1605	.	663	Q8NCU4	K1407_HUMAN	D	663	ENSP00000295878:E663D	ENSP00000295878:E663D	E	-	3	2	KIAA1407	115204065	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	0.489000	0.22387	1.635000	0.50512	0.655000	0.94253	GAG		0.318	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	NM_020817		A	113721375	C	A	113721375	3	1	659	1	0	0	0	0	1	0	0	0	8231	912	32	4	845	4	KIAA1407	3	113721375	Missense_Mutation	SNP	C	TCGA-GL-6846-01A-11D-1961-08	67007869	113721375	84301055	10	35833											
POLQ	10721	hgsc.bcm.edu	37	3	121217327	121217327	+	Missense_Mutation	SNP	T	T	G			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr3:121217327T>G	ENST00000264233.5	-	13	2278	c.2150A>C	c.(2149-2151)aAa>aCa	p.K717T		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	717					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)		CGTTTACCTTTTATGGATGGC	0.453								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)											0													164	147	153					3																	121217327		2203	4300	6503	SO:0001583	missense	10721			AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"DNA polymerases"	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.2150A>C	chr3.hg19:g.121217327T>G	ENSP00000264233:p.Lys717Thr		O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	hg19	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.369837	0.82573	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.53857	0.6	5.83	5.83	0.93111	.	0.049703	0.85682	D	0.000000	T	0.69584	0.3127	M	0.85945	2.785	0.49582	D	0.999802	D	0.57257	0.979	P	0.58130	0.833	T	0.75199	-0.3402	10	0.87932	D	0	.	10.5218	0.44922	0.0:0.072:0.0:0.928	.	717	O75417	DPOLQ_HUMAN	T	340;717;853	ENSP00000264233:K717T	ENSP00000264233:K717T	K	-	2	0	POLQ	122700017	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.866000	0.69590	2.212000	0.71576	0.533000	0.62120	AAA		0.453	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		G	121217327	T	G	121217327	3	3	659	1	0	0	0	0	1	0	0	0	12210	1841	64	5	5694	5	POLQ	3	121217327	Missense_Mutation	SNP	T	TCGA-GL-6846-01A-11D-1961-08	7495952	121217327	76805103	11	35834											
IQCJ	654502	hgsc.bcm.edu	37	3	158980472	158980472	+	Splice_Site	SNP	C	C	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr3:158980472C>A	ENST00000451172.1	+	4	396	c.291C>A	c.(289-291)ccC>ccA	p.P97P	IQCJ_ENST00000482126.1_Splice_Site_p.P70P|IQCJ-SCHIP1_ENST00000485419.1_Splice_Site_p.P97P|IQCJ-SCHIP1_ENST00000476809.1_Splice_Site_p.P70P|IQCJ-SCHIP1_ENST00000467442.1_3'UTR|IQCJ_ENST00000397832.2_Silent_p.P97P	NM_001042705.2	NP_001036170.1	Q1A5X6	IQCJ_HUMAN	IQ motif containing J	97										cervix(1)|endometrium(2)|large_intestine(2)|lung(10)	15			LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)			GCAGCACACCCGTGAGTGTCA	0.517																																																0													114	113	113					3																	158980472		2005	4175	6180	SO:0001630	splice_region_variant	654502			DQ309553, DQ309554	CCDS46946.1, CCDS46947.1, CCDS56290.1	3q25.32	2011-03-24			ENSG00000214216	ENSG00000214216			32406	protein-coding gene	gene with protein product		611622				17045569	Standard	NM_001042705		Approved			Q1A5X6	OTTHUMG00000166440	ENST00000451172.1:c.291+1C>A	chr3.hg19:g.158980472C>A			B7ZMM2|B9EH97|Q1A5X5	Silent	SNP	ENST00000451172.1	hg19	CCDS46946.1																																																																																				0.517	IQCJ-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352395.1	NM_001042705.1	Silent	A	158980472	C	A	158980472	5	1	659	1	0	0	0	0	0	0	1	0	7814	666	23	4	305	4	IQCJ	3	158980472	Splice_Site	SNP	C	TCGA-GL-6846-01A-11D-1961-08	37763145	158980472	39041958	12	35835											
SEC62	7095	hgsc.bcm.edu	37	3	169706125	169706125	+	Silent	SNP	C	C	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr3:169706125C>T	ENST00000337002.4	+	7	766	c.708C>T	c.(706-708)gcC>gcT	p.A236A	SEC62_ENST00000470355.1_3'UTR|SEC62_ENST00000480708.1_Silent_p.A236A|SEC62-AS1_ENST00000479626.1_RNA	NM_003262.3	NP_003253.1	Q99442	SEC62_HUMAN	SEC62 homolog (S. cerevisiae)	236					cotranslational protein targeting to membrane (GO:0006613)|posttranslational protein targeting to membrane (GO:0006620)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						GTTTTGTAGCCAGTATTCTTC	0.433																																																0													208	189	195					3																	169706125		2203	4300	6503	SO:0001819	synonymous_variant	7095			D87127	CCDS3210.1	3q26.2	2008-04-22	2008-04-22	2008-04-22	ENSG00000008952	ENSG00000008952			11846	protein-coding gene	gene with protein product		602173	"translocation protein 1"	TLOC1		9020021, 10799540	Standard	NM_003262		Approved	Dtrp1, HTP1	uc003fgh.3	Q99442	OTTHUMG00000158753	ENST00000337002.4:c.708C>T	chr3.hg19:g.169706125C>T			D3DNQ0|O00682|O00729	Silent	SNP	ENST00000337002.4	hg19	CCDS3210.1																																																																																				0.433	SEC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352043.1			T	169706125	C	T	169706125	2	4	659	1	0	0	0	0	0	0	0	1	14010	581	21	2		2	SEC62	3	169706125	Silent	SNP	C	TCGA-GL-6846-01A-11D-1961-08	10725653	169706125	28316305	13	35836											
ACAP2	23527	hgsc.bcm.edu	37	3	195006526	195006526	+	Splice_Site	SNP	T	T	C			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr3:195006526T>C	ENST00000326793.6	-	22	2465	c.2235A>G	c.(2233-2235)ccA>ccG	p.P745P		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	745					cellular response to nerve growth factor stimulus (GO:1990090)|protein localization to endosome (GO:0036010)|regulation of ARF GTPase activity (GO:0032312)	endosome membrane (GO:0010008)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						AATATTGACCTGGCTGTCCAT	0.313																																																0													131	120	124					3																	195006526		2203	4299	6502	SO:0001630	splice_region_variant	23527				CCDS33924.1	3q29	2013-01-10	2008-09-22	2008-09-22	ENSG00000114331	ENSG00000114331		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16469	protein-coding gene	gene with protein product		607766	"centaurin, beta 2"	CENTB2		11050434, 11062263	Standard	NM_012287		Approved	KIAA0041, CNT-B2	uc003fun.4	Q15057	OTTHUMG00000155885	ENST00000326793.6:c.2236+1A>G	chr3.hg19:g.195006526T>C			A8K2V4|Q8N5Z8|Q9UQR3	Silent	SNP	ENST00000326793.6	hg19	CCDS33924.1																																																																																				0.313	ACAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342126.2	NM_012287	Silent	C	195006526	T	C	195006526	5	2	659	1	0	0	0	0	0	0	1	0	119	1594	55	3	109	3	ACAP2	3	195006526	Splice_Site	SNP	T	TCGA-GL-6846-01A-11D-1961-08	25300401	195006526	3015904	14	35837											
LMLN	89782	hgsc.bcm.edu	37	3	197687145	197687145	+	Missense_Mutation	SNP	G	G	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr3:197687145G>A	ENST00000330198.4	+	1	75	c.53G>A	c.(52-54)gGt>gAt	p.G18D	IQCG_ENST00000480302.1_5'Flank|IQCG_ENST00000265239.6_5'Flank|LMLN_ENST00000482695.1_Silent_p.G6G|LMLN_ENST00000420910.2_Missense_Mutation_p.G18D|LMLN_ENST00000332636.5_Silent_p.G6G	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	18					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)		GGAGGAGTGGGTTACTCGGGC	0.736																																																0													21	26	25					3																	197687145		2199	4297	6496	SO:0001583	missense	89782			AJ312398	CCDS3332.1, CCDS46988.1	3q29	2008-02-04			ENSG00000185621	ENSG00000185621	3.4.24.36		15991	protein-coding gene	gene with protein product		609380					Standard	NM_033029		Approved	Gp63, Msp	uc010iar.3	Q96KR4	OTTHUMG00000155375	ENST00000330198.4:c.53G>A	chr3.hg19:g.197687145G>A	ENSP00000328829:p.Gly18Asp		B3LDG9|B3LDH0|C9J796|F8WB28|Q96KR5	Missense_Mutation	SNP	ENST00000330198.4	hg19	CCDS3332.1	.	.	.	.	.	.	.	.	.	.	G	10.43	1.349097	0.24426	.	.	ENSG00000185621	ENST00000330198;ENST00000420910	T;T	0.45276	0.92;0.9	3.66	0.764	0.18465	.	0.675595	0.12533	N	0.460640	T	0.22044	0.0531	N	0.19112	0.55	0.09310	N	0.999994	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.16012	-1.0417	10	0.36615	T	0.2	-0.6469	2.1617	0.03827	0.1124:0.1977:0.4859:0.204	.	18;18	Q96KR4;F8WB28	LMLN_HUMAN;.	D	18	ENSP00000328829:G18D;ENSP00000410926:G18D	ENSP00000328829:G18D	G	+	2	0	LMLN	199171542	0.000000	0.05858	0.000000	0.03702	0.207000	0.24258	0.016000	0.13377	0.154000	0.19237	0.456000	0.33151	GGT		0.736	LMLN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339701.1	NM_033029		A	197687145	G	A	197687145	3	1	659	1	0	0	0	0	1	0	0	0	8849	1261	44	2	55	2	LMLN	3	197687145	Missense_Mutation	SNP	G	TCGA-GL-6846-01A-11D-1961-08	2680619	197687145	335285	15	35838											
FRYL	285527	hgsc.bcm.edu	37	4	48598002	48598003	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	TT	TT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr4:48598002_48598003delTT	ENST00000503238.1	-	11	1049_1050	c.1050_1051delAA	c.(1048-1053)aaaatgfs	p.KM350fs	FRYL_ENST00000507711.1_Frame_Shift_Del_p.KM350fs|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000506685.1_Frame_Shift_Del_p.KM56fs|FRYL_ENST00000358350.4_Frame_Shift_Del_p.KM350fs|FRYL_ENST00000537810.1_Frame_Shift_Del_p.KM350fs			O94915	FRYL_HUMAN	FRY-like	350					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						ACTCGAGACATTTTCGGATCTT	0.302																																																0																																										SO:0001589	frameshift_variant	285527			AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"KIAA0826", "furry homolog-like (Drosophila)"	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.1050_1051delAA	chr4.hg19:g.48598004_48598005delTT	ENSP00000426064:p.Lys350fs		O95640|Q8WTZ5|Q9NT40	Frame_Shift_Del	DEL	ENST00000503238.1	hg19	CCDS43227.1																																																																																				0.302	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			-	48598003	TT	-	48598002	7	5	659	1	0	1	0	1	0	0	0	0	6066	1493	52	0	8194	0	FRYL	4	48598002	Frame_Shift_Del	DEL	TT	TCGA-GL-6846-01A-11D-1961-08		48598002	142556274	16	35839											
TET2	54790	hgsc.bcm.edu	37	4	106157461	106157461	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr4:106157461G>T	ENST00000540549.1	+	3	3222	c.2362G>T	c.(2362-2364)Gaa>Taa	p.E788*	TET2_ENST00000305737.2_Nonsense_Mutation_p.E788*|TET2_ENST00000513237.1_Nonsense_Mutation_p.E809*|TET2_ENST00000380013.4_Nonsense_Mutation_p.E788*|TET2_ENST00000413648.2_Nonsense_Mutation_p.E788*|TET2_ENST00000394764.1_Nonsense_Mutation_p.E788*|TET2_ENST00000545826.1_Nonsense_Mutation_p.E788*			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	788	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.E788K(1)|p.E788*(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)		TTTTCATGGTGAAAATCAGTA	0.393			"Mis N, F"		MDS																																		Rec	yes		4	4q24	54790	tet oncogene family member 2		L	2	Substitution - Nonsense(1)|Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(2)											57	60	59					4																	106157461		2203	4300	6503	SO:0001587	stop_gained	54790			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"KIAA1546", "tet oncogene family member 2"	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.2362G>T	chr4.hg19:g.106157461G>T	ENSP00000442788:p.Glu788*		B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Nonsense_Mutation	SNP	ENST00000540549.1	hg19	CCDS47120.1	.	.	.	.	.	.	.	.	.	.	G	42	9.661685	0.99231	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648	.	.	.	5.91	5.91	0.95273	.	16.416400	0.00166	N	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	20.2985	0.98592	0.0:0.0:1.0:0.0	.	.	.	.	X	788;788;788;809;788;788;788	.	ENSP00000265149:E788X	E	+	1	0	TET2	106376910	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	4.534000	0.60622	2.793000	0.96121	0.655000	0.94253	GAA		0.393	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628		T	106157461	G	T	106157461	4	4	659	1	0	0	0	0	0	1	0	0	15775	1291	45	4	2364	4	TET2	4	106157461	Nonsense_Mutation	SNP	G	TCGA-GL-6846-01A-11D-1961-08	57559459	106157461	84996815	17	35840											
FAT1	2195	hgsc.bcm.edu	37	4	187530418	187530418	+	Silent	SNP	T	T	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr4:187530418T>A	ENST00000441802.2	-	16	10334	c.10125A>T	c.(10123-10125)atA>atT	p.I3375I		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						GGTTGCCATCTATAATTGAGT	0.478										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)											0													126	121	123					4																	187530418		1933	4136	6069	SO:0001819	synonymous_variant	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.10125A>T	chr4.hg19:g.187530418T>A				Silent	SNP	ENST00000441802.2	hg19	CCDS47177.1																																																																																				0.478	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		A	187530418	T	A	187530418	2	1	659	1	0	0	0	0	0	0	0	1	5691	1512	53	5		5	FAT1	4	187530418	Silent	SNP	T	TCGA-GL-6846-01A-11D-1961-08	81372957	187530418	3623858	18	35841											
AGGF1	55109	hgsc.bcm.edu	37	5	76344781	76344781	+	Missense_Mutation	SNP	C	C	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr5:76344781C>A	ENST00000312916.7	+	8	1716	c.1334C>A	c.(1333-1335)aCt>aAt	p.T445N		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	445	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|RNA processing (GO:0006396)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	nucleic acid binding (GO:0003676)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		ATGGAACATACTCTCCGAATC	0.294																																																0													97	106	103					5																	76344781		2203	4295	6498	SO:0001583	missense	55109			AK001145	CCDS4035.1	5q13.3	2013-10-11			ENSG00000164252	ENSG00000164252		"G patch domain containing"	24684	protein-coding gene	gene with protein product		608464				18564129, 17103452	Standard	NM_018046		Approved	VG5Q, HSU84971, FLJ10283, GPATC7, GPATCH7	uc003ket.3	Q8N302	OTTHUMG00000102132	ENST00000312916.7:c.1334C>A	chr5.hg19:g.76344781C>A	ENSP00000316109:p.Thr445Asn		O00581|Q53YS3|Q9BU84|Q9NW66	Missense_Mutation	SNP	ENST00000312916.7	hg19	CCDS4035.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.028459	0.54790	.	.	ENSG00000164252	ENST00000312916	T	0.39592	1.07	4.64	4.64	0.57946	Forkhead-associated (FHA) domain (4);SMAD/FHA domain (1);	0.105294	0.64402	D	0.000003	T	0.41627	0.1167	N	0.17723	0.515	0.80722	D	1	P	0.51653	0.947	P	0.52424	0.698	T	0.36286	-0.9754	10	0.44086	T	0.13	-4.4424	16.8258	0.85930	0.0:1.0:0.0:0.0	.	445	Q8N302	AGGF1_HUMAN	N	445	ENSP00000316109:T445N	ENSP00000316109:T445N	T	+	2	0	AGGF1	76380537	1.000000	0.71417	0.987000	0.45799	0.743000	0.42351	7.194000	0.77789	2.285000	0.76669	0.305000	0.20034	ACT		0.294	AGGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219971.2	NM_018046		A	76344781	C	A	76344781	3	1	659	1	0	0	0	0	1	0	0	0	382	565	20	4	1364	4	AGGF1	5	76344781	Missense_Mutation	SNP	C	TCGA-GL-6846-01A-11D-1961-08		76344781	104570479	19	35842											
NME5	8382	hgsc.bcm.edu	37	5	137474383	137474383	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr5:137474383delC	ENST00000265191.2	-	2	136	c.87delG	c.(85-87)gagfs	p.E29fs		NM_003551.2	NP_003542.1	P56597	NDK5_HUMAN	NME/NM23 family member 5	29					cilium assembly (GO:0042384)|CTP biosynthetic process (GO:0006241)|epithelial cilium movement (GO:0003351)|GTP biosynthetic process (GO:0006183)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|nucleoside metabolic process (GO:0009116)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)|ventricular system development (GO:0021591)	sperm flagellum (GO:0036126)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)			kidney(1)|large_intestine(1)|lung(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TATCTTGTATCTCCTCCTCTT	0.368																																																0													140	128	132					5																	137474383		2203	4300	6503	SO:0001589	frameshift_variant	8382			Y14992	CCDS4197.1	5q31.2	2012-05-18	2012-05-18		ENSG00000112981	ENSG00000112981			7853	protein-coding gene	gene with protein product	"radial spoke 23 homolog (Chlamydomonas)"	603575	"non-metastatic cells 5, protein expressed in (nucleoside-diphosphate kinase)"			9742940, 19852809	Standard	NM_003551		Approved	nm23-H5, RSPH23	uc003lce.3	P56597	OTTHUMG00000129207	ENST00000265191.2:c.87delG	chr5.hg19:g.137474383delC	ENSP00000265191:p.Glu29fs		B2R5G7	Frame_Shift_Del	DEL	ENST00000265191.2	hg19	CCDS4197.1																																																																																				0.368	NME5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251286.1	NM_003551		-	137474383	C	-	137474383	7	5	659	1	0	1	0	1	0	0	0	0	10496	912	32	0	571	0	NME5	5	137474383	Frame_Shift_Del	DEL	C	TCGA-GL-6846-01A-11D-1961-08	61129602	137474383	43440877	20	35843	264	2									
NME5	8382	hgsc.bcm.edu	37	5	137474385	137474386	+	Nonsense_Mutation	DNP	CC	CC	AG			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr5:137474385_137474386CC>AG	ENST00000265191.2	-	2	133_134	c.84_85GG>CT	c.(82-87)gaGGag>gaCTag	p.28_29EE>D*		NM_003551.2	NP_003542.1	P56597	NDK5_HUMAN	NME/NM23 family member 5	28					cilium assembly (GO:0042384)|CTP biosynthetic process (GO:0006241)|epithelial cilium movement (GO:0003351)|GTP biosynthetic process (GO:0006183)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|nucleoside metabolic process (GO:0009116)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)|ventricular system development (GO:0021591)	sperm flagellum (GO:0036126)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)			kidney(1)|large_intestine(1)|lung(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TCTTGTATCTCCTCCTCTTTGT	0.371																																																0																																										SO:0001587	stop_gained	8382			Y14992	CCDS4197.1	5q31.2	2012-05-18	2012-05-18		ENSG00000112981	ENSG00000112981			7853	protein-coding gene	gene with protein product	"radial spoke 23 homolog (Chlamydomonas)"	603575	"non-metastatic cells 5, protein expressed in (nucleoside-diphosphate kinase)"			9742940, 19852809	Standard	NM_003551		Approved	nm23-H5, RSPH23	uc003lce.3	P56597	OTTHUMG00000129207	ENST00000265191.2:c.84_85delinsAG	chr5.hg19:g.137474385_137474386delinsAG	ENSP00000265191:p.E28_E29delinsD*		B2R5G7	Nonsense_Mutation|Missense_Mutation	SNP	ENST00000265191.2	hg19	CCDS4197.1																																																																																				0.371	NME5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251286.1	NM_003551		AG	137474386	CC	AG	137474385	4	1	659	1	0	0	0	0	0	1	0	0	10496	864	30	4	573	4	NME5	5	137474385	Nonsense_Mutation	DNP	CC	TCGA-GL-6846-01A-11D-1961-08	2	137474385	43440875	21	35844	264	2									
PCDH12	51294	hgsc.bcm.edu	37	5	141336615	141336615	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr5:141336615C>T	ENST00000231484.3	-	1	2012	c.802G>A	c.(802-804)Gcc>Acc	p.A268T	PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	268	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A268T(1)		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)			GGGTCTGTGGCGGTCAGTTTT	0.527																																																1	Substitution - Missense(1)	large_intestine(1)											97	95	96					5																	141336615		2203	4300	6503	SO:0001583	missense	51294			AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"Cadherins / Protocadherins : Non-clustered"	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.802G>A	chr5.hg19:g.141336615C>T	ENSP00000231484:p.Ala268Thr		Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Missense_Mutation	SNP	ENST00000231484.3	hg19	CCDS4269.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.727645	0.89390	.	.	ENSG00000113555	ENST00000231484	T	0.61392	0.11	5.32	5.32	0.75619	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.82190	0.4983	M	0.93283	3.4	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.86437	0.1764	10	0.87932	D	0	.	16.5409	0.84384	0.0:1.0:0.0:0.0	.	268	Q9NPG4	PCD12_HUMAN	T	268	ENSP00000231484:A268T	ENSP00000231484:A268T	A	-	1	0	PCDH12	141316799	1.000000	0.71417	0.991000	0.47740	0.932000	0.56968	7.651000	0.83577	2.767000	0.95098	0.655000	0.94253	GCC		0.527	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		T	141336615	C	T	141336615	3	4	659	1	0	0	0	0	1	0	0	0	11512	768	27	1	2768	1	PCDH12	5	141336615	Missense_Mutation	SNP	C	TCGA-GL-6846-01A-11D-1961-08	3862230	141336615	39578645	22	35845											
AGXT2L2	85007	hgsc.bcm.edu	37	5	177642285	177642285	+	Silent	SNP	C	C	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr5:177642285C>T	ENST00000308158.5	-	9	1308	c.1074G>A	c.(1072-1074)ggG>ggA	p.G358G	PHYKPL_ENST00000481811.1_5'UTR	NM_153373.2	NP_699204.1	Q8IUZ5	AT2L2_HUMAN	5-phosphohydroxy-L-lysine phospho-lyase	358						mitochondrion (GO:0005739)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)									L-Alanine(DB00160)	ACCTGACATCCCCGACGATGG	0.567																																																0													42	39	40					5																	177642285		2203	4300	6503	SO:0001819	synonymous_variant	85007			BC037567	CCDS4434.1	5q35.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000175309	ENSG00000175309	4.2.3.134		28249	protein-coding gene	gene with protein product	"5-phosphonooxy-L-lysine phospho-lyase"	614683	"alanine-glyoxylate aminotransferase 2-like 2"	AGXT2L2		22241472	Standard	NM_153373		Approved	MGC15875	uc003miz.3	Q8IUZ5	OTTHUMG00000130892	ENST00000308158.5:c.1074G>A	chr5.hg19:g.177642285C>T			A8K7P6|B3KN36|D3DWP9|Q8WYS6|Q96HW8	Silent	SNP	ENST00000308158.5	hg19	CCDS4434.1																																																																																				0.567	PHYKPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253477.1	NM_032921		T	177642285	C	T	177642285	2	4	659	1	0	0	0	0	0	0	0	1	407	610	22	2		2	AGXT2L2	5	177642285	Silent	SNP	C	TCGA-GL-6846-01A-11D-1961-08	36305670	177642285	3272975	23	35846											
KCTD20	222658	hgsc.bcm.edu	37	6	36454734	36454734	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr6:36454734C>T	ENST00000373731.2	+	8	1433	c.1042C>T	c.(1042-1044)Cgc>Tgc	p.R348C	KCTD20_ENST00000449081.2_Missense_Mutation_p.R182C|KCTD20_ENST00000544295.1_Missense_Mutation_p.R102C|KCTD20_ENST00000474988.1_3'UTR|KCTD20_ENST00000536244.1_Missense_Mutation_p.R203C	NM_173562.3	NP_775833.2	Q7Z5Y7	KCD20_HUMAN	potassium channel tetramerization domain containing 20	348					protein homooligomerization (GO:0051260)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1)	15						TTATGTACAACGCCCCTTCAT	0.463																																																0													90	96	94					6																	36454734		2203	4300	6503	SO:0001583	missense	222658			BC023525	CCDS4821.1, CCDS69096.1, CCDS69097.1	6p21.31	2013-06-20	2013-06-20	2006-06-26	ENSG00000112078	ENSG00000112078			21052	protein-coding gene	gene with protein product		615932	"chromosome 6 open reading frame 69", "potassium channel tetramerisation domain containing 20"	C6orf69			Standard	NM_001286580		Approved	dJ108K11.3, MGC14254	uc003ome.3	Q7Z5Y7	OTTHUMG00000014597	ENST00000373731.2:c.1042C>T	chr6.hg19:g.36454734C>T	ENSP00000362836:p.Arg348Cys		B4DZD3|B4E2Q3|F5H3T3|Q5W105|Q69YQ7|Q8IZ55	Missense_Mutation	SNP	ENST00000373731.2	hg19	CCDS4821.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.701883	0.88924	.	.	ENSG00000112078	ENST00000373731;ENST00000544295;ENST00000449081;ENST00000536244	D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56	6.03	6.03	0.97812	.	0.061169	0.64402	N	0.000003	D	0.87148	0.6105	L	0.53561	1.675	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.87043	0.2142	10	0.56958	D	0.05	-18.2215	15.2928	0.73879	0.14:0.86:0.0:0.0	.	182;348	Q7Z5Y7-2;Q7Z5Y7	.;KCD20_HUMAN	C	348;102;182;203	ENSP00000362836:R348C;ENSP00000440150:R102C;ENSP00000412205:R182C;ENSP00000439118:R203C	ENSP00000362836:R348C	R	+	1	0	KCTD20	36562712	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.971000	0.40530	2.861000	0.98227	0.655000	0.94253	CGC		0.463	KCTD20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040345.2	NM_173562		T	36454734	C	T	36454734	3	4	659	1	0	0	0	0	1	0	0	0	8110	536	19	1	1068	1	KCTD20	6	36454734	Missense_Mutation	SNP	C	TCGA-GL-6846-01A-11D-1961-08		36454734	134660333	24	35847											
ULBP1	80329	hgsc.bcm.edu	37	6	150289835	150289835	+	Missense_Mutation	SNP	C	C	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr6:150289835C>A	ENST00000229708.3	+	2	221	c.178C>A	c.(178-180)Cct>Act	p.P60T		NM_025218.2	NP_079494.1	Q9BZM6	N2DL1_HUMAN	UL16 binding protein 1	60	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)	anchored component of plasma membrane (GO:0046658)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	natural killer cell lectin-like receptor binding (GO:0046703)			large_intestine(3)|lung(5)|pancreas(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.14e-11)		GGATGAAAGGCCTTTTCTTCA	0.453																																																0													133	133	133					6																	150289835		2203	4300	6503	SO:0001583	missense	80329			AF304377	CCDS5223.1	6q25	2003-04-29			ENSG00000111981	ENSG00000111981			14893	protein-coding gene	gene with protein product		605697				11239445, 11827464	Standard	XM_005267151		Approved	RAET1I	uc003qnp.3	Q9BZM6	OTTHUMG00000015810	ENST00000229708.3:c.178C>A	chr6.hg19:g.150289835C>A	ENSP00000229708:p.Pro60Thr		Q5VY81|Q8IZW3|Q8IZX6	Missense_Mutation	SNP	ENST00000229708.3	hg19	CCDS5223.1	.	.	.	.	.	.	.	.	.	.	c	0.006	-2.109641	0.00353	.	.	ENSG00000111981	ENST00000367345;ENST00000229708	T;T	0.00682	5.86;5.86	2.2	-4.39	0.03611	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	0.00144	0.0004	N	0.11927	0.2	0.09310	N	1	B	0.10296	0.003	B	0.17098	0.017	T	0.45101	-0.9284	9	0.72032	D	0.01	.	1.2925	0.02063	0.2296:0.3696:0.2522:0.1487	.	60	Q9BZM6	N2DL1_HUMAN	T	60	ENSP00000356314:P60T;ENSP00000229708:P60T	ENSP00000229708:P60T	P	+	1	0	ULBP1	150331528	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-4.865000	0.00176	-2.597000	0.00453	-0.834000	0.03071	CCT		0.453	ULBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042677.2			A	150289835	C	A	150289835	3	1	659	1	0	0	0	0	1	0	0	0	16977	739	26	4	184	4	ULBP1	6	150289835	Missense_Mutation	SNP	C	TCGA-GL-6846-01A-11D-1961-08	113835101	150289835	20825232	25	35848											
MLLT4	4301	hgsc.bcm.edu	37	6	168344092	168344092	+	Missense_Mutation	SNP	T	T	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr6:168344092T>A	ENST00000447894.2	+	24	3155	c.3155T>A	c.(3154-3156)cTa>cAa	p.L1052Q	MLLT4_ENST00000366806.2_Missense_Mutation_p.L1052Q|MLLT4_ENST00000507679.1_3'UTR|MLLT4_ENST00000344191.4_Missense_Mutation_p.L1052Q|MLLT4_ENST00000400822.3_Missense_Mutation_p.L1051Q|MLLT4_ENST00000351017.4_Missense_Mutation_p.L1059Q|MLLT4_ENST00000392112.1_Missense_Mutation_p.L1035Q|MLLT4_ENST00000392108.3_Missense_Mutation_p.L1052Q			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1052	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				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)		GATGGACGTCTAGCTGCAGGT	0.458			T	MLL	AL																																		Dom	yes		6	6q27	4301	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"		L	0													244	221	229					6																	168344092		2203	4300	6503	SO:0001583	missense	4301			AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.3155T>A	chr6.hg19:g.168344092T>A	ENSP00000404595:p.Leu1052Gln		O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	ENST00000447894.2	hg19		.	.	.	.	.	.	.	.	.	.	T	23.7	4.441746	0.83993	.	.	ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894	T;T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74;0.74	5.18	5.18	0.71444	PDZ/DHR/GLGF (4);	0.000000	0.64402	D	0.000010	T	0.76751	0.4031	H	0.97983	4.12	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;0.998;0.997	D	0.86288	0.1672	10	0.87932	D	0	-11.2076	15.0548	0.71904	0.0:0.0:0.0:1.0	.	1052;1051;1052;1036	P55196;P55196-5;P55196-6;P55196-2	AFAD_HUMAN;.;.;.	Q	1052;1059;1052;1052;1035;1052;1051;1052	ENSP00000341118:L1052Q;ENSP00000252692:L1059Q;ENSP00000375956:L1052Q;ENSP00000355771:L1052Q;ENSP00000375960:L1035Q;ENSP00000383623:L1051Q;ENSP00000404595:L1052Q	ENSP00000345834:L1052Q	L	+	2	0	MLLT4	168086941	1.000000	0.71417	0.015000	0.15790	0.985000	0.73830	7.440000	0.80464	1.954000	0.56735	0.528000	0.53228	CTA		0.458	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		A	168344092	T	A	168344092	3	1	659	1	0	0	0	0	1	0	0	0	9631	1522	53	5	3249	5	MLLT4	6	168344092	Missense_Mutation	SNP	T	TCGA-GL-6846-01A-11D-1961-08	18054257	168344092	2770975	26	35849											
C7orf26	79034	hgsc.bcm.edu	37	7	6639834	6639834	+	Missense_Mutation	SNP	T	T	G			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr7:6639834T>G	ENST00000344417.5	+	4	1222	c.955T>G	c.(955-957)Ttc>Gtc	p.F319V	C7orf26_ENST00000359073.5_Missense_Mutation_p.F222V|C7orf26_ENST00000472693.1_3'UTR	NM_024067.2	NP_076972.2	Q96N11	CG026_HUMAN	chromosome 7 open reading frame 26	319										endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	11		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)		GCTGATCCTCTTCGACCACAT	0.582																																																0													59	52	54					7																	6639834		2203	4300	6503	SO:0001583	missense	79034			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.955T>G	chr7.hg19:g.6639834T>G	ENSP00000340220:p.Phe319Val		Q9BQ43	Missense_Mutation	SNP	ENST00000344417.5	hg19	CCDS5353.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.95|10.95	1.496091|1.496091	0.26774|0.26774	.|.	.|.	ENSG00000146576|ENSG00000146576	ENST00000344417;ENST00000359073|ENST00000445375	T;T|T	0.39997|0.40756	1.05;1.05|1.02	5.2|5.2	5.2|5.2	0.72013|0.72013	.|.	0.213127|.	0.53938|.	D|.	0.000054|.	T|T	0.30103|0.30103	0.0754|0.0754	N|N	0.19112|0.19112	0.55|0.55	0.29914|0.29914	N|N	0.823337|0.823337	B;B|.	0.17038|.	0.02;0.02|.	B;B|.	0.14023|.	0.004;0.01|.	T|T	0.12344|0.12344	-1.0551|-1.0551	10|7	0.14656|0.09084	T|T	0.56|0.74	-26.1927|-26.1927	13.6493|13.6493	0.62301|0.62301	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	222;319|.	Q96N11-2;Q96N11|.	.;CG026_HUMAN|.	V|R	319;222|56	ENSP00000340220:F319V;ENSP00000351974:F222V|ENSP00000390166:L56R	ENSP00000340220:F319V|ENSP00000390166:L56R	F|L	+|+	1|2	0|0	C7orf26|C7orf26	6606359|6606359	1.000000|1.000000	0.71417|0.71417	0.466000|0.466000	0.27168|0.27168	0.709000|0.709000	0.40893|0.40893	3.987000|3.987000	0.56944|0.56944	2.268000|2.268000	0.75426|0.75426	0.454000|0.454000	0.30748|0.30748	TTC|CTT		0.582	C7orf26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246844.2	NM_024067		G	6639834	T	G	6639834	3	3	659	1	0	0	0	0	1	0	0	0	2383	1609	56	5	969	5	C7orf26	7	6639834	Missense_Mutation	SNP	T	TCGA-GL-6846-01A-11D-1961-08		6639834	152498829	27	35850											
ASB4	51666	hgsc.bcm.edu	37	7	95125264	95125264	+	Missense_Mutation	SNP	G	G	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr7:95125264G>A	ENST00000325885.5	+	2	453	c.382G>A	c.(382-384)Gat>Aat	p.D128N	ASB4_ENST00000257621.4_3'UTR|ASB4_ENST00000428113.1_Missense_Mutation_p.D128N	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	128					intracellular signal transduction (GO:0035556)|positive regulation of vasculogenesis (GO:2001214)|protein autoubiquitination (GO:0051865)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			GATCCTCTGTGATCGTGGGGC	0.458																																																0													210	156	175					7																	95125264		2203	4300	6503	SO:0001583	missense	51666			AF156779	CCDS5641.1, CCDS5642.1	7q21-q22	2013-01-10	2011-01-25		ENSG00000005981	ENSG00000005981		"Ankyrin repeat domain containing"	16009	protein-coding gene	gene with protein product		605761	"ankyrin repeat and SOCS box-containing 4"				Standard	NM_145872		Approved	ASB-4	uc011kij.2	Q9Y574	OTTHUMG00000153960	ENST00000325885.5:c.382G>A	chr7.hg19:g.95125264G>A	ENSP00000321388:p.Asp128Asn		A4D1H6|O14586|Q14D68|Q8TBT2	Missense_Mutation	SNP	ENST00000325885.5	hg19	CCDS5641.1	.	.	.	.	.	.	.	.	.	.	G	11.62	1.692526	0.30052	.	.	ENSG00000005981	ENST00000325885;ENST00000428113	T;T	0.65364	-0.15;-0.15	5.35	5.35	0.76521	Ankyrin repeat-containing domain (3);	0.260422	0.44688	D	0.000432	T	0.48822	0.1521	L	0.38531	1.155	0.33932	D	0.642157	B;B	0.15141	0.009;0.012	B;B	0.15052	0.012;0.011	T	0.56062	-0.8041	10	0.45353	T	0.12	-7.733	7.2877	0.26348	0.2046:0.0:0.7954:0.0	.	128;128	Q9Y574;Q14D68	ASB4_HUMAN;.	N	128	ENSP00000321388:D128N;ENSP00000397070:D128N	ENSP00000321388:D128N	D	+	1	0	ASB4	94963200	1.000000	0.71417	1.000000	0.80357	0.292000	0.27327	3.865000	0.56033	2.680000	0.91292	0.655000	0.94253	GAT		0.458	ASB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333225.2	NM_016116		A	95125264	G	A	95125264	3	1	659	1	0	0	0	0	1	0	0	0	1025	1290	45	2	388	2	ASB4	7	95125264	Missense_Mutation	SNP	G	TCGA-GL-6846-01A-11D-1961-08	88485430	95125264	64013399	28	35851											
NRCAM	4897	hgsc.bcm.edu	37	7	107808822	107808822	+	Silent	SNP	G	G	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr7:107808822G>A	ENST00000425651.2	-	26	3212	c.3213C>T	c.(3211-3213)agC>agT	p.S1071S	NRCAM_ENST00000379028.3_Silent_p.S1071S|NRCAM_ENST00000379024.4_Intron|NRCAM_ENST00000379022.4_Silent_p.S1071S|NRCAM_ENST00000413765.2_Intron|NRCAM_ENST00000351718.4_Intron	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	1071	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CAGTAAGATTGCTGATCCTGG	0.363																																																0													71	68	69					7																	107808822		1891	4119	6010	SO:0001819	synonymous_variant	4897				CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7994	protein-coding gene	gene with protein product	"NgCAM-related cell adhesion molecule"	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.3213C>T	chr7.hg19:g.107808822G>A			A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Silent	SNP	ENST00000425651.2	hg19	CCDS47686.1	.	.	.	.	.	.	.	.	.	.	G	9.798	1.179809	0.21787	.	.	ENSG00000091129	ENST00000445634	.	.	.	5.75	1.63	0.23807	.	.	.	.	.	T	0.55433	0.1920	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49624	-0.8920	4	.	.	.	.	7.8556	0.29480	0.0:0.3328:0.2964:0.3708	.	.	.	.	V	21	.	.	A	-	2	0	NRCAM	107596058	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.272000	0.33109	0.762000	0.33152	0.650000	0.86243	GCA		0.363	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132		A	107808822	G	A	107808822	2	1	659	1	0	0	0	0	0	0	0	1	10646	1310	46	2		2	NRCAM	7	107808822	Silent	SNP	G	TCGA-GL-6846-01A-11D-1961-08	12683558	107808822	51329841	29	35852											
CHD7	55636	hgsc.bcm.edu	37	8	61654762	61654762	+	Silent	SNP	T	T	C			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr8:61654762T>C	ENST00000423902.2	+	2	1250	c.771T>C	c.(769-771)caT>caC	p.H257H	CHD7_ENST00000525508.1_Silent_p.H257H|CHD7_ENST00000524602.1_Silent_p.H257H	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	257					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)			AGCAGTTCCATCACCACCCCT	0.582																																																0													119	122	121					8																	61654762		2099	4221	6320	SO:0001819	synonymous_variant	55636			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"CHARGE association"	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.771T>C	chr8.hg19:g.61654762T>C			D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Silent	SNP	ENST00000423902.2	hg19	CCDS47865.1																																																																																				0.582	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		C	61654762	T	C	61654762	2	2	659	1	0	0	0	0	0	0	0	1	3332	1432	50	3		3	CHD7	8	61654762	Silent	SNP	T	TCGA-GL-6846-01A-11D-1961-08		61654762	84709260	30	35853											
BNC2	54796	hgsc.bcm.edu	37	9	16552614	16552615	+	In_Frame_Ins	INS	-	-	GAA			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr9:16552614_16552615insGAA	ENST00000380672.4	-	5	639_640	c.582_583insTTC	c.(580-585)ttcagc>ttcTTCagc	p.194_195insF	BNC2_ENST00000545497.1_In_Frame_Ins_p.99_100insF|BNC2_ENST00000380667.2_In_Frame_Ins_p.127_128insF|BNC2_ENST00000380666.2_In_Frame_Ins_p.194_195insF	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)		TTCAGGACGCTGAAGAGACGGT	0.55																																																0																																										SO:0001652	inframe_insertion	54796			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.580_582dupTTC	chr9.hg19:g.16552615_16552617dupGAA	ENSP00000370047:p.Phe194_Phe194dup			In_Frame_Ins	INS	ENST00000380672.4	hg19	CCDS6482.2																																																																																				0.55	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		GAA	16552615	-	GAA	16552614	7	5	659	1	0	1	1	0	0	0	0	0	1475	1580	55	0	2728	0	BNC2	9	16552614	In_Frame_Ins	INS	-	TCGA-GL-6846-01A-11D-1961-08		16552614	124660817	31	35854											
GTF3C5	9328	hgsc.bcm.edu	37	9	135917679	135917680	+	Missense_Mutation	DNP	TT	TT	AA			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr9:135917679_135917680TT>AA	ENST00000372097.5	+	2	682_683	c.359_360TT>AA	c.(358-360)aTT>aAA	p.I120K	GTF3C5_ENST00000342018.8_Missense_Mutation_p.I120K|GTF3C5_ENST00000485692.1_Intron|GTF3C5_ENST00000372108.5_Missense_Mutation_p.I120K|GTF3C5_ENST00000372095.5_Intron|GTF3C5_ENST00000372099.6_Missense_Mutation_p.I111K	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	120					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		ATCTCCACCATTTACAAATTTC	0.535																																																0																																										SO:0001583	missense	9328			AF133124	CCDS6958.1, CCDS48050.1, CCDS75927.1	9q34.13	2010-03-23	2002-08-29		ENSG00000148308	ENSG00000148308		"General transcription factors"	4668	protein-coding gene	gene with protein product	"transcription factor IIIC, 63 kD"	604890	"general transcription factor IIIC, polypeptide 5 (63kD)"			10373544	Standard	NM_012087		Approved	TFiiiC2-63, TFIIIC63, TFIIICepsilon	uc004ccj.4	Q9Y5Q8	OTTHUMG00000020856	Exception_encountered	chr9.hg19:g.135917679_135917680delinsAA	ENSP00000361169:p.Ile120Lys		A6NI44|A6NJB9|Q5T7U2|Q5T7U3|Q8N2U7|Q8N857|Q96GD9|Q9H4P2	Missense_Mutation|Silent	SNP	ENST00000372097.5	hg19	CCDS6958.1																																																																																				0.535	GTF3C5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054826.1	NM_001122823		AA	135917680	TT	AA	135917679	3	1	659	1	0	0	0	0	1	0	0	0	6878	1493	52	5	365	5	GTF3C5	9	135917679	Missense_Mutation	DNP	TT	TCGA-GL-6846-01A-11D-1961-08	119365065	135917679	5295752	32	35855											
CACNA1B	774	hgsc.bcm.edu	37	9	140943670	140943670	+	Silent	SNP	T	T	C			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr9:140943670T>C	ENST00000371372.1	+	24	3758	c.3613T>C	c.(3613-3615)Ttg>Ctg	p.L1205L	CACNA1B_ENST00000371355.4_Silent_p.L1206L|CACNA1B_ENST00000277551.2_Silent_p.L1205L|CACNA1B_ENST00000371357.1_Silent_p.L1206L|CACNA1B_ENST00000277549.5_Silent_p.L397L|CACNA1B_ENST00000371363.1_Silent_p.L1205L|CACNA1B_ENST00000545473.1_3'UTR	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1205					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	GATGATCGACTTGGGACTGCT	0.527																																																0													177	173	174					9																	140943670		2047	4198	6245	SO:0001819	synonymous_variant	774			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.3613T>C	chr9.hg19:g.140943670T>C			B1AQK5	Silent	SNP	ENST00000371372.1	hg19	CCDS59522.1																																																																																				0.527	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		C	140943670	T	C	140943670	2	2	659	1	0	0	0	0	0	0	0	1	2541	1606	56	3		3	CACNA1B	9	140943670	Silent	SNP	T	TCGA-GL-6846-01A-11D-1961-08	5025991	140943670	269761	33	35856											
DIP2C	22982	hgsc.bcm.edu	37	10	375449	375449	+	Missense_Mutation	SNP	A	A	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr10:375449A>T	ENST00000280886.6	-	30	3764	c.3677T>A	c.(3676-3678)gTc>gAc	p.V1226D		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1226						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)		CGTGTCTCGGACTTTGTACTG	0.577																																																0													64	55	58					10																	375449		2203	4300	6503	SO:0001583	missense	22982			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.3677T>A	chr10.hg19:g.375449A>T	ENSP00000280886:p.Val1226Asp		B4DPI5|Q5SS78	Missense_Mutation	SNP	ENST00000280886.6	hg19	CCDS7054.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	34|34	5.376544|5.376544	0.95945|0.95945	.|.	.|.	ENSG00000151240|ENSG00000151240	ENST00000434695|ENST00000280886;ENST00000535541;ENST00000381503	.|T	.|0.51574	.|0.7	5.84|5.84	5.84|5.84	0.93424|0.93424	.|AMP-dependent synthetase/ligase (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.67211|0.67211	0.2869|0.2869	M|M	0.67397|0.67397	2.05|2.05	0.80722|0.80722	D|D	1|1	.|D	.|0.60575	.|0.988	.|D	.|0.71656	.|0.974	T|T	0.69749|0.69749	-0.5061|-0.5061	5|10	.|0.66056	.|D	.|0.02	-39.2182|-39.2182	16.2141|16.2141	0.82191|0.82191	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1226	.|Q9Y2E4	.|DIP2C_HUMAN	R|D	31|1226;151;75	.|ENSP00000280886:V1226D	.|ENSP00000280886:V1226D	S|V	-|-	3|2	2|0	DIP2C|DIP2C	365449|365449	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.841000|0.841000	0.47740|0.47740	9.339000|9.339000	0.96797|0.96797	2.230000|2.230000	0.72887|0.72887	0.528000|0.528000	0.53228|0.53228	AGT|GTC		0.577	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		T	375449	A	T	375449	3	4	659	1	0	0	0	0	1	0	0	0	4531	275	10	5	1025	5	DIP2C	10	375449	Missense_Mutation	SNP	A	TCGA-GL-6846-01A-11D-1961-08		375449	135159298	34	35857											
ZEB1	6935	hgsc.bcm.edu	37	10	31812949	31812949	+	Missense_Mutation	SNP	G	G	T	rs35653460		TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr10:31812949G>T	ENST00000320985.10	+	8	2800	c.2690G>T	c.(2689-2691)cGg>cTg	p.R897L	ZEB1_ENST00000560721.2_Missense_Mutation_p.R877L|ZEB1_ENST00000446923.2_Missense_Mutation_p.R881L|ZEB1_ENST00000542815.3_Missense_Mutation_p.R830L|ZEB1_ENST00000361642.5_Missense_Mutation_p.R898L			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	897					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)	p.R897Q(1)		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)				AAGAAAATGCGGAAGACAGAA	0.373																																					Ovarian(40;423 959 14296 36701 49589)											1	Substitution - Missense(1)	large_intestine(1)											111	111	111					10																	31812949		2203	4300	6503	SO:0001583	missense	6935			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.2690G>T	chr10.hg19:g.31812949G>T	ENSP00000319248:p.Arg897Leu		B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	ENST00000320985.10	hg19	CCDS7169.1	.	.	.	.	.	.	.	.	.	.	G	19.18	3.777667	0.70107	.	.	ENSG00000148516	ENST00000542879;ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000543514;ENST00000446923	T;T;T;T;T	0.07327	3.2;3.2;3.2;3.2;3.2	5.72	4.8	0.61643	.	0.369405	0.21055	N	0.080939	T	0.15435	0.0372	L	0.27053	0.805	0.41478	D	0.988147	D;P;B;P;P	0.69078	0.997;0.826;0.208;0.826;0.826	D;B;B;B;B	0.69824	0.966;0.334;0.09;0.334;0.177	T	0.02901	-1.1096	10	0.52906	T	0.07	-12.9237	10.1047	0.42526	0.071:0.1383:0.7907:0.0	.	830;881;877;898;897	F5H4I8;E9PCM7;Q5VZ84;Q2KJ05;P37275	.;.;.;.;ZEB1_HUMAN	L	679;897;898;892;830;897;877;788;881	ENSP00000444282:R679L;ENSP00000354487:R898L;ENSP00000444891:R830L;ENSP00000319248:R897L;ENSP00000391612:R881L	ENSP00000319248:R897L	R	+	2	0	ZEB1	31852955	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.665000	0.68052	1.410000	0.46936	0.585000	0.79938	CGG		0.373	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		T	31812949	G	T	31812949	3	4	659	1	0	0	0	0	1	0	0	0	17628	1116	39	4	2734	4	ZEB1	10	31812949	Missense_Mutation	SNP	G	TCGA-GL-6846-01A-11D-1961-08	31437500	31812949	103721798	35	35858											
SEC23IP	11196	hgsc.bcm.edu	37	10	121692658	121692658	+	Missense_Mutation	SNP	T	T	C			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr10:121692658T>C	ENST00000369075.3	+	17	2972	c.2900T>C	c.(2899-2901)cTt>cCt	p.L967P	SEC23IP_ENST00000543134.1_Missense_Mutation_p.L756P|SEC23IP_ENST00000475542.1_3'UTR	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	967	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				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)		CTTTTCGCTCTTCAGAGTCAC	0.383																																																0													128	125	126					10																	121692658		2203	4300	6503	SO:0001583	missense	11196			AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651		"Sterile alpha motif (SAM) domain containing"	17018	protein-coding gene	gene with protein product						10400679	Standard	NM_007190		Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.2900T>C	chr10.hg19:g.121692658T>C	ENSP00000358071:p.Leu967Pro		D3DRD2|Q8IXH5|Q9BUK5	Missense_Mutation	SNP	ENST00000369075.3	hg19	CCDS7618.1	.	.	.	.	.	.	.	.	.	.	T	18.64	3.667691	0.67814	.	.	ENSG00000107651	ENST00000369075;ENST00000543134	T;T	0.39406	1.08;1.12	5.28	4.14	0.48551	DDHD (2);	0.000000	0.85682	D	0.000000	T	0.65831	0.2729	M	0.86268	2.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.991;0.998	T	0.69254	-0.5193	10	0.62326	D	0.03	-23.9312	11.2264	0.48886	0.0:0.0726:0.0:0.9274	.	756;967	F5H0L8;Q9Y6Y8	.;S23IP_HUMAN	P	967;756	ENSP00000358071:L967P;ENSP00000438773:L756P	ENSP00000358071:L967P	L	+	2	0	SEC23IP	121682648	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	7.655000	0.83696	0.950000	0.37743	-0.256000	0.11100	CTT		0.383	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050688.1			C	121692658	T	C	121692658	3	2	659	1	0	0	0	0	1	0	0	0	13999	1609	56	3	2966	3	SEC23IP	10	121692658	Missense_Mutation	SNP	T	TCGA-GL-6846-01A-11D-1961-08	89879709	121692658	13842089	36	35859											
DOCK1	1793	hgsc.bcm.edu	37	10	128788791	128788791	+	Missense_Mutation	SNP	C	C	G			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr10:128788791C>G	ENST00000280333.6	+	6	506	c.397C>G	c.(397-399)Ctt>Gtt	p.L133V		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	133					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		ATCACAAATTCTTTCTGGAAC	0.393																																																0													109	103	105					10																	128788791		1909	4134	6043	SO:0001583	missense	1793			D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"DOwnstream of CrK"	601403	"dedicator of cyto-kinesis 1"			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.397C>G	chr10.hg19:g.128788791C>G	ENSP00000280333:p.Leu133Val		A9Z1Z5	Missense_Mutation	SNP	ENST00000280333.6	hg19		.	.	.	.	.	.	.	.	.	.	C	14.43	2.532331	0.45073	.	.	ENSG00000150760	ENST00000280333	T	0.47177	0.85	4.5	4.5	0.54988	.	0.000000	0.64402	D	0.000001	T	0.47911	0.1471	L	0.61218	1.895	0.53688	D	0.999978	B;B	0.28850	0.122;0.225	B;B	0.26202	0.067;0.061	T	0.52366	-0.8585	10	0.51188	T	0.08	.	17.7282	0.88370	0.0:1.0:0.0:0.0	.	133;133	B2RUU3;Q14185	.;DOCK1_HUMAN	V	133	ENSP00000280333:L133V	ENSP00000280333:L133V	L	+	1	0	DOCK1	128678781	1.000000	0.71417	0.998000	0.56505	0.967000	0.64934	4.454000	0.60068	2.510000	0.84645	0.555000	0.69702	CTT		0.393	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380		G	128788791	C	G	128788791	3	3	659	1	0	0	0	0	1	0	0	0	4686	913	32	4	419	4	DOCK1	10	128788791	Missense_Mutation	SNP	C	TCGA-GL-6846-01A-11D-1961-08	7096133	128788791	6745956	37	35860											
OR56A1	120796	hgsc.bcm.edu	37	11	6048449	6048449	+	Silent	SNP	A	A	G			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr11:6048449A>G	ENST00000316650.5	-	1	522	c.486T>C	c.(484-486)ctT>ctC	p.L162L		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, 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(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGGTGCAGTAAGAAGCGCAT	0.498																																																0													142	125	131					11																	6048449		2201	4296	6497	SO:0001819	synonymous_variant	120796			AB065821	CCDS31405.1	11p15.4	2012-08-09			ENSG00000180934	ENSG00000180934		"GPCR / Class A : Olfactory receptors"	14781	protein-coding gene	gene with protein product							Standard	NM_001001917		Approved		uc010qzw.2	Q8NGH5	OTTHUMG00000165377	ENST00000316650.5:c.486T>C	chr11.hg19:g.6048449A>G			B2RNI2|Q6IFL0	Silent	SNP	ENST00000316650.5	hg19	CCDS31405.1																																																																																				0.498	OR56A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383757.1	NM_001001917		G	6048449	A	G	6048449	2	3	659	1	0	0	0	0	0	0	0	1	11135	349	13	3		3	OR56A1	11	6048449	Silent	SNP	A	TCGA-GL-6846-01A-11D-1961-08		6048449	128958067	38	35861											
VWF	7450	hgsc.bcm.edu	37	12	6143881	6143881	+	Silent	SNP	G	G	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr12:6143881G>T	ENST00000261405.5	-	20	2912	c.2658C>A	c.(2656-2658)ccC>ccA	p.P886P		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	886	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				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)	GGCACTCCCCGGGGAACAGGT	0.602																																																0													154	126	136					12																	6143881		2203	4300	6503	SO:0001819	synonymous_variant	7450				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.2658C>A	chr12.hg19:g.6143881G>T			Q8TCE8|Q99806	Silent	SNP	ENST00000261405.5	hg19	CCDS8539.1																																																																																				0.602	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		T	6143881	G	T	6143881	2	4	659	1	0	0	0	0	0	0	0	1	17251	1103	39	4		4	VWF	12	6143881	Silent	SNP	G	TCGA-GL-6846-01A-11D-1961-08		6143881	127708014	39	35862											
MLF2	8079	hgsc.bcm.edu	37	12	6859057	6859057	+	Silent	SNP	C	C	A	rs201104363	byFrequency	TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr12:6859057C>A	ENST00000203630.5	-	7	1160	c.516G>T	c.(514-516)acG>acT	p.T172T	MLF2_ENST00000539187.1_Silent_p.T172T|MLF2_ENST00000564181.1_5'Flank|MLF2_ENST00000435120.1_Silent_p.T172T|MLF2_ENST00000542154.1_Silent_p.T172T			Q15773	MLF2_HUMAN	myeloid leukemia factor 2	172					defense response (GO:0006952)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)		p.T172T(1)		kidney(2)|large_intestine(3)|lung(4)	9						CCTGGTCCCCCGTGCGATGGT	0.612																																																1	Substitution - coding silent(1)	lung(1)											109	91	97					12																	6859057		2203	4300	6503	SO:0001819	synonymous_variant	8079			U57342	CCDS8559.1	12p13.31	2014-09-11			ENSG00000089693	ENSG00000089693			7126	protein-coding gene	gene with protein product		601401				8661158	Standard	NM_005439		Approved	NTN4	uc010sfi.2	Q15773	OTTHUMG00000168717	ENST00000203630.5:c.516G>T	chr12.hg19:g.6859057C>A				Silent	SNP	ENST00000203630.5	hg19	CCDS8559.1	.	.	.	.	.	.	.	.	.	.	C	10.97	1.502929	0.26949	.	.	ENSG00000089693	ENST00000537126	.	.	.	5.83	-11.7	0.00046	.	.	.	.	.	T	0.63034	0.2477	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.80908	-0.1172	5	0.87932	D	0	.	11.3127	0.49372	0.0696:0.0898:0.1311:0.7095	.	.	.	.	L	183	.	ENSP00000439789:R183L	R	-	2	0	MLF2	6729318	0.000000	0.05858	0.093000	0.20910	0.970000	0.65996	-2.378000	0.01068	-3.057000	0.00258	-1.069000	0.02264	CGG		0.612	MLF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400733.2			A	6859057	C	A	6859057	2	1	659	1	0	0	0	0	0	0	0	1	9618	639	23	4		4	MLF2	12	6859057	Silent	SNP	C	TCGA-GL-6846-01A-11D-1961-08	715176	6859057	126992838	40	35863											
KIAA0528	9847	hgsc.bcm.edu	37	12	22623804	22623804	+	Silent	SNP	C	C	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr12:22623804C>T	ENST00000333957.4	-	21	2655	c.2400G>A	c.(2398-2400)caG>caA	p.Q800Q	C2CD5_ENST00000545552.1_Silent_p.Q813Q|C2CD5_ENST00000542676.1_Silent_p.Q800Q|C2CD5_ENST00000446597.1_Silent_p.Q800Q|C2CD5_ENST00000536386.1_Silent_p.Q802Q|C2CD5_ENST00000544930.1_Silent_p.Q615Q|C2CD5_ENST00000396028.2_Silent_p.Q791Q	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	800					cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)										TTTGTAAAGCCTGATTTTTGT	0.343																																																0													159	149	152					12																	22623804		2203	4299	6502	SO:0001819	synonymous_variant	9847			AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"138 kDa C2 domain-containing phosphoprotein"		"KIAA0528"	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.2400G>A	chr12.hg19:g.22623804C>T			B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Silent	SNP	ENST00000333957.4	hg19	CCDS31758.1	.	.	.	.	.	.	.	.	.	.	C	8.519	0.868292	0.17250	.	.	ENSG00000111731	ENST00000539615	.	.	.	4.99	3.02	0.34903	.	.	.	.	.	T	0.47691	0.1459	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39881	-0.9592	4	.	.	.	-10.4578	4.4442	0.11589	0.0:0.6458:0.0:0.3542	.	.	.	.	K	84	.	.	R	-	2	0	KIAA0528	22515071	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.959000	0.40412	1.338000	0.45544	0.591000	0.81541	AGG		0.343	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402257.1	NM_014802		T	22623804	C	T	22623804	2	4	659	1	0	0	0	0	0	0	0	1	8184	680	24	2		2	KIAA0528	12	22623804	Silent	SNP	C	TCGA-GL-6846-01A-11D-1961-08	15764747	22623804	111228091	41	35864											
ITGB7	3695	hgsc.bcm.edu	37	12	53586547	53586547	+	Missense_Mutation	SNP	T	T	C			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr12:53586547T>C	ENST00000267082.5	-	13	2105	c.1874A>G	c.(1873-1875)cAg>cGg	p.Q625R	ITGB7_ENST00000550743.2_Intron|ITGB7_ENST00000338737.4_Intron|ITGB7_ENST00000422257.3_Missense_Mutation_p.Q625R	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	625	Cysteine-rich tandem repeats.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte tethering or rolling (GO:0050901)|multicellular organismal development (GO:0007275)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alpha4-beta7 complex (GO:0034669)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTCCAAGCACTGGCAGCGGTT	0.597																																																0													117	95	102					12																	53586547		2203	4300	6503	SO:0001583	missense	3695				CCDS8849.1	12q13.1	2010-03-23				ENSG00000139626		"Integrins"	6162	protein-coding gene	gene with protein product		147559				2040616	Standard	XM_005268851		Approved		uc001scc.3	P26010		ENST00000267082.5:c.1874A>G	chr12.hg19:g.53586547T>C	ENSP00000267082:p.Gln625Arg		Q9UCP7|Q9UCS7	Missense_Mutation	SNP	ENST00000267082.5	hg19	CCDS8849.1	.	.	.	.	.	.	.	.	.	.	T	13.89	2.372998	0.42105	.	.	ENSG00000139626	ENST00000422257;ENST00000267082	D;D	0.94046	-3.34;-3.34	5.13	5.13	0.70059	EGF, extracellular (1);	0.000000	0.40385	N	0.001119	D	0.87533	0.6201	N	0.20685	0.6	0.80722	D	1	P	0.40515	0.719	B	0.39258	0.295	D	0.86926	0.2070	10	0.30078	T	0.28	.	14.3146	0.66440	0.0:0.0:0.0:1.0	.	625	P26010	ITB7_HUMAN	R	625	ENSP00000408741:Q625R;ENSP00000267082:Q625R	ENSP00000267082:Q625R	Q	-	2	0	ITGB7	51872814	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	1.901000	0.39838	2.087000	0.62958	0.454000	0.30748	CAG		0.597	ITGB7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405821.2			C	53586547	T	C	53586547	3	2	659	1	0	0	0	0	1	0	0	0	7902	1580	55	3	538	3	ITGB7	12	53586547	Missense_Mutation	SNP	T	TCGA-GL-6846-01A-11D-1961-08	30962743	53586547	80265348	42	35865											
SHMT2	6472	hgsc.bcm.edu	37	12	57625342	57625342	+	Splice_Site	SNP	A	A	G			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr12:57625342A>G	ENST00000328923.3	+	3	762	c.310A>G	c.(310-312)Aga>Gga	p.R104G	SHMT2_ENST00000554600.1_3'UTR|SHMT2_ENST00000553474.1_Splice_Site_p.R83G|SHMT2_ENST00000557487.1_Splice_Site_p.R104G|SHMT2_ENST00000449049.3_Splice_Site_p.R83G|SHMT2_ENST00000414700.3_Splice_Site_p.R83G|SHMT2_ENST00000393827.4_Intron	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)	104					glycine biosynthetic process from serine (GO:0019264)|L-serine biosynthetic process (GO:0006564)|one-carbon metabolic process (GO:0006730)|positive regulation of cell proliferation (GO:0008284)|protein homotetramerization (GO:0051289)|tetrahydrofolate interconversion (GO:0035999)	extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|chromatin binding (GO:0003682)|glycine hydroxymethyltransferase activity (GO:0004372)|L-allo-threonine aldolase activity (GO:0008732)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Tetrahydrofolic acid(DB00116)	TCCTGGCAAGAGGTGAGGGCT	0.597																																					Esophageal Squamous(150;1369 2416 49071 49364)											0													55	52	53					12																	57625342		2203	4300	6503	SO:0001630	splice_region_variant	6472			AK223555	CCDS8934.1, CCDS53805.1, CCDS55837.1	12q12-q14	2006-03-27				ENSG00000182199	2.1.2.1		10852	protein-coding gene	gene with protein product		138450		SHMT		8999870	Standard	NM_005412		Approved		uc001snf.2	P34897		ENST00000328923.3:c.311+1A>G	chr12.hg19:g.57625342A>G			B7Z9F1|E7EQ19|E7EU43|O00740|Q8N1A5	Missense_Mutation	SNP	ENST00000328923.3	hg19	CCDS8934.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.700417	0.88924	.	.	ENSG00000182199	ENST00000328923;ENST00000557487;ENST00000556689;ENST00000414700;ENST00000557703;ENST00000553529;ENST00000554310;ENST00000557427;ENST00000553474;ENST00000555773;ENST00000554975;ENST00000449049;ENST00000556737	T;T;T;T;T;T;T;T;T;T;T;T;T	0.60920	0.15;0.15;0.15;0.15;0.15;0.15;0.15;0.15;0.15;0.15;0.15;0.15;0.15	4.71	4.71	0.59529	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.094386	0.64402	D	0.000001	D	0.85048	0.5608	H	0.98936	4.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.987	D	0.90665	0.4593	10	0.87932	D	0	.	13.611	0.62078	1.0:0.0:0.0:0.0	.	104;104	Q8N1A5;P34897	.;GLYM_HUMAN	G	104;104;104;83;83;83;83;83;83;83;83;83;83	ENSP00000333667:R104G;ENSP00000452315:R104G;ENSP00000452035:R104G;ENSP00000406881:R83G;ENSP00000450452:R83G;ENSP00000452161:R83G;ENSP00000450893:R83G;ENSP00000452045:R83G;ENSP00000452419:R83G;ENSP00000451968:R83G;ENSP00000452404:R83G;ENSP00000413770:R83G;ENSP00000451495:R83G	ENSP00000333667:R104G	R	+	1	2	SHMT2	55911609	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.024000	0.70857	2.128000	0.65567	0.459000	0.35465	AGA		0.597	SHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412525.2	NM_005412	Missense_Mutation	G	57625342	A	G	57625342	5	3	659	1	0	0	0	0	0	0	1	0	14292	318	11	3	320	3	SHMT2	12	57625342	Splice_Site	SNP	A	TCGA-GL-6846-01A-11D-1961-08	4038795	57625342	76226553	43	35866											
FSCB	84075	hgsc.bcm.edu	37	14	44975261	44975261	+	Silent	SNP	C	C	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr14:44975261C>T	ENST00000340446.4	-	1	1221	c.930G>A	c.(928-930)gcG>gcA	p.A310A	RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000556228.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	310						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)		CAGAATTCTCCGCAACTGCAG	0.527																																																0													48	51	50					14																	44975261		2203	4300	6503	SO:0001819	synonymous_variant	84075			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.930G>A	chr14.hg19:g.44975261C>T			Q5H9U7|Q86YI2|Q9H0J3	Silent	SNP	ENST00000340446.4	hg19	CCDS9679.1																																																																																				0.527	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		T	44975261	C	T	44975261	2	4	659	1	0	0	0	0	0	0	0	1	6068	639	23	1		1	FSCB	14	44975261	Silent	SNP	C	TCGA-GL-6846-01A-11D-1961-08		44975261	62374279	44	35867											
TDP1	55775	hgsc.bcm.edu	37	14	90429932	90429932	+	Silent	SNP	G	G	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr14:90429932G>A	ENST00000335725.4	+	3	724	c.474G>A	c.(472-474)ctG>ctA	p.L158L	TDP1_ENST00000393452.3_Silent_p.L158L|TDP1_ENST00000555565.1_Intron|TDP1_ENST00000555880.1_Silent_p.L158L|TDP1_ENST00000393454.2_Silent_p.L158L|TDP1_ENST00000357382.3_5'UTR	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	158					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)		GGGACATGCTGGATAAAGGGA	0.512								Repair of DNA-protein crosslinks																																								0													63	59	60					14																	90429932		2203	4300	6503	SO:0001819	synonymous_variant	55775			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.474G>A	chr14.hg19:g.90429932G>A			Q2HXX4|Q86TV8|Q96BK7|Q9NZM7|Q9NZM8	Silent	SNP	ENST00000335725.4	hg19	CCDS9888.1																																																																																				0.512	TDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411239.1	NM_018319		A	90429932	G	A	90429932	2	1	659	1	0	0	0	0	0	0	0	1	15733	1335	47	2		2	TDP1	14	90429932	Silent	SNP	G	TCGA-GL-6846-01A-11D-1961-08	45454671	90429932	16919608	45	35868											
SRRM2	23524	hgsc.bcm.edu	37	16	2814253	2814253	+	Missense_Mutation	SNP	G	G	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr16:2814253G>A	ENST00000301740.8	+	11	4273	c.3724G>A	c.(3724-3726)Gta>Ata	p.V1242I		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1242	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						AATGGAGGTGGTAGAGAAGTC	0.443																																																0													106	113	111					16																	2814253		2198	4300	6498	SO:0001583	missense	23524			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.3724G>A	chr16.hg19:g.2814253G>A	ENSP00000301740:p.Val1242Ile		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	hg19	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	G	3.875	-0.027037	0.07589	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	T	0.24350	1.86	6.17	2.02	0.26589	.	0.793322	0.11547	N	0.553197	T	0.13713	0.0332	N	0.16478	0.41	0.09310	N	0.999996	B	0.06786	0.001	B	0.06405	0.002	T	0.33292	-0.9874	10	0.20519	T	0.43	0.1551	6.7948	0.23719	0.375:0.0:0.625:0.0	.	1242	Q9UQ35	SRRM2_HUMAN	I	1242;1242;494	ENSP00000301740:V1242I	ENSP00000301740:V1242I	V	+	1	0	SRRM2	2754254	0.001000	0.12720	0.868000	0.34077	0.982000	0.71751	-0.011000	0.12721	0.445000	0.26639	0.655000	0.94253	GTA		0.443	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			A	2814253	G	A	2814253	3	1	659	1	0	0	0	0	1	0	0	0	15174	1261	44	2	3762	2	SRRM2	16	2814253	Missense_Mutation	SNP	G	TCGA-GL-6846-01A-11D-1961-08		2814253	87540500	46	35869											
SRCAP	10847	hgsc.bcm.edu	37	16	30735227	30735227	+	Silent	SNP	A	A	C			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr16:30735227A>C	ENST00000262518.4	+	25	4867	c.4482A>C	c.(4480-4482)gcA>gcC	p.A1494A	SRCAP_ENST00000395059.2_Silent_p.A1432A|SRCAP_ENST00000344771.4_Silent_p.A1336A	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1494	Pro-rich.			A -> Q (in Ref. 6; AAD39760). {ECO:0000305}.	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)			CCTCCTTGGCACCATCTGGTG	0.587																																																0													113	102	106					16																	30735227		2197	4300	6497	SO:0001819	synonymous_variant	10847			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.4482A>C	chr16.hg19:g.30735227A>C			B0JZA6|O15026|Q7Z744|Q9Y5L9	Silent	SNP	ENST00000262518.4	hg19	CCDS10689.2																																																																																				0.587	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		C	30735227	A	C	30735227	2	2	659	1	0	0	0	0	0	0	0	1	15140	146	6	5		5	SRCAP	16	30735227	Silent	SNP	A	TCGA-GL-6846-01A-11D-1961-08	27920974	30735227	59619526	47	35870											
C16orf86	388284	hgsc.bcm.edu	37	16	67702137	67702137	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr16:67702137C>G	ENST00000403458.4	+	4	743	c.588C>G	c.(586-588)taC>taG	p.Y196*	ENKD1_ENST00000602409.1_5'Flank|ENKD1_ENST00000243878.4_5'Flank|ENKD1_ENST00000602644.1_5'Flank	NM_001012984.2	NP_001013002.2	Q6ZW13	CP086_HUMAN	chromosome 16 open reading frame 86	196										endometrium(2)|lung(4)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		TGTACCAGTACGTCAACTATT	0.667											OREG0023886	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													15	16	16					16																	67702137		2190	4293	6483	SO:0001587	stop_gained	388284				CCDS32468.2	16q22.1	2008-10-30			ENSG00000159761	ENSG00000159761			33755	protein-coding gene	gene with protein product							Standard	NM_001012984		Approved	FLJ41802	uc002ety.3	Q6ZW13	OTTHUMG00000150527	ENST00000403458.4:c.588C>G	chr16.hg19:g.67702137C>G	ENSP00000384117:p.Tyr196*	1101	B5MCW6	Nonsense_Mutation	SNP	ENST00000403458.4	hg19	CCDS32468.2	.	.	.	.	.	.	.	.	.	.	C	32	5.154005	0.94645	.	.	ENSG00000159761	ENST00000403458	.	.	.	5.95	2.97	0.34412	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.8901	9.6968	0.40163	0.0:0.7838:0.0:0.2162	.	.	.	.	X	196	.	ENSP00000384117:Y196X	Y	+	3	2	C16orf86	66259638	0.998000	0.40836	1.000000	0.80357	0.972000	0.66771	0.259000	0.18405	0.426000	0.26116	0.563000	0.77884	TAC		0.667	C16orf86-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318767.2	NM_001012984		G	67702137	C	G	67702137	4	3	659	1	0	0	0	0	0	1	0	0	1841	547	19	4	602	4	C16orf86	16	67702137	Nonsense_Mutation	SNP	C	TCGA-GL-6846-01A-11D-1961-08	36966910	67702137	22652616	48	35871											
C16orf7	9605	hgsc.bcm.edu	37	16	89775318	89775318	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr16:89775318delG	ENST00000389386.3	-	13	1768	c.1644delC	c.(1642-1644)cccfs	p.P548fs	VPS9D1_ENST00000565452.1_5'Flank|VPS9D1_ENST00000561976.1_Frame_Shift_Del_p.P478fs|VPS9D1-AS1_ENST00000562866.1_RNA	NM_004913.2	NP_004904.2	Q9Y2B5	VP9D1_HUMAN	VPS9 domain containing 1	548	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				ATP synthesis coupled proton transport (GO:0015986)		GTPase activator activity (GO:0005096)|transporter activity (GO:0005215)										CCTCTGGGGTGGGGCAGTAGT	0.682																																																0													13	16	15					16																	89775318		1928	4125	6053	SO:0001589	frameshift_variant	9605			AB018551	CCDS42220.1	16q24.3	2012-10-09	2012-10-09	2012-10-09	ENSG00000075399	ENSG00000075399			13526	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 7"	C16orf7		10231027	Standard	NM_004913		Approved	ATP-BL	uc002fom.1	Q9Y2B5	OTTHUMG00000173219	ENST00000389386.3:c.1644delC	chr16.hg19:g.89775318delG	ENSP00000374037:p.Pro548fs			Frame_Shift_Del	DEL	ENST00000389386.3	hg19	CCDS42220.1																																																																																				0.682	VPS9D1-002	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422508.1	NM_004913		-	89775318	G	-	89775318	7	5	659	1	0	1	0	1	0	0	0	0	1830	1335	47	0	263	0	C16orf7	16	89775318	Frame_Shift_Del	DEL	G	TCGA-GL-6846-01A-11D-1961-08	22073181	89775318	579435	49	35872											
SCARF1	8578	hgsc.bcm.edu	37	17	1538231	1538231	+	Missense_Mutation	SNP	T	T	C			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr17:1538231T>C	ENST00000263071.4	-	11	2363	c.2314A>G	c.(2314-2316)Aga>Gga	p.R772G	SCARF1_ENST00000348987.3_Missense_Mutation_p.R686G|SCARF1_ENST00000571272.1_3'UTR	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	772	Gly-rich.				cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|dendrite development (GO:0016358)|neuron remodeling (GO:0016322)|positive regulation of axon regeneration (GO:0048680)|positive regulation of neuron projection development (GO:0010976)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TCCTCTGGTCTGACTGCCATA	0.657																																																0													34	39	37					17																	1538231		2203	4298	6501	SO:0001583	missense	8578			D63483	CCDS11007.1, CCDS45564.1	17p13.3	2008-07-18			ENSG00000074660	ENSG00000074660			16820	protein-coding gene	gene with protein product	"scavenger receptor expressed by endothelial cells", "acetyl LDL receptor"	607873				9395444, 8590280	Standard	NM_003693		Approved	SREC, KIAA0149	uc002fsz.2	Q14162	OTTHUMG00000090555	ENST00000263071.4:c.2314A>G	chr17.hg19:g.1538231T>C	ENSP00000263071:p.Arg772Gly		A8MQ05|O43701|Q8NHD2|Q8NHD3|Q8NHD4|Q8NHD5	Missense_Mutation	SNP	ENST00000263071.4	hg19	CCDS11007.1	.	.	.	.	.	.	.	.	.	.	t	9.073	0.997418	0.19043	.	.	ENSG00000074660	ENST00000263071;ENST00000348987	T;T	0.20463	2.07;2.77	4.68	-1.08	0.09936	.	0.960477	0.08537	N	0.931174	T	0.08980	0.0222	N	0.03608	-0.345	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.38993	-0.9635	10	0.24483	T	0.36	-2.2932	9.7539	0.40492	0.0:0.3094:0.0:0.6906	.	686;772	Q14162-2;Q14162	.;SREC_HUMAN	G	772;686	ENSP00000263071:R772G;ENSP00000323964:R686G	ENSP00000263071:R772G	R	-	1	2	SCARF1	1484981	0.000000	0.05858	0.004000	0.12327	0.092000	0.18411	-0.431000	0.06965	-0.332000	0.08489	0.450000	0.29827	AGA		0.657	SCARF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207081.4	NM_003693		C	1538231	T	C	1538231	3	2	659	1	0	0	0	0	1	0	0	0	13889	1588	55	3	182	3	SCARF1	17	1538231	Missense_Mutation	SNP	T	TCGA-GL-6846-01A-11D-1961-08		1538231	79656979	50	35873											
CAMKK1	84254	hgsc.bcm.edu	37	17	3788622	3788622	+	Splice_Site	SNP	C	C	G			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr17:3788622C>G	ENST00000348335.2	-	2	508	c.360G>C	c.(358-360)gaG>gaC	p.E120D	CAMKK1_ENST00000381771.2_Splice_Site_p.E120D|CAMKK1_ENST00000158166.5_Splice_Site_p.E120D|CAMKK1_ENST00000381769.2_Splice_Site_p.E147D	NM_032294.2	NP_115670.1	Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase kinase 1, alpha	120					synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		CCCCACCAACCTCTGCATCTG	0.622																																																0													12	15	14					17																	3788622		2182	4265	6447	SO:0001630	splice_region_variant	84254			AL136576	CCDS11038.1, CCDS11039.1	17p13.3	2004-02-18			ENSG00000004660	ENSG00000004660			1469	protein-coding gene	gene with protein product		611411				11230166	Standard	NM_172207		Approved	DKFZp761M0423, CAMKKA, MGC34095	uc002fwt.3	Q8N5S9	OTTHUMG00000090725	ENST00000348335.2:c.360+1G>C	chr17.hg19:g.3788622C>G			Q9BQH3	Missense_Mutation	SNP	ENST00000348335.2	hg19	CCDS11038.1	.	.	.	.	.	.	.	.	.	.	C	11.57	1.677258	0.29783	.	.	ENSG00000004660	ENST00000381769;ENST00000348335;ENST00000381771;ENST00000158166	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	5.57	5.57	0.84162	Protein kinase-like domain (1);	0.246503	0.41938	D	0.000799	T	0.31513	0.0799	N	0.19112	0.55	0.44316	D	0.997194	B;B	0.13145	0.007;0.002	B;B	0.14578	0.011;0.005	T	0.11494	-1.0585	9	.	.	.	-39.5364	12.0428	0.53462	0.1724:0.8276:0.0:0.0	.	120;120	F8W9H1;Q8N5S9	.;KKCC1_HUMAN	D	147;120;120;120	ENSP00000371188:E147D;ENSP00000323118:E120D;ENSP00000371190:E120D;ENSP00000158166:E120D	.	E	-	3	2	CAMKK1	3735371	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	2.413000	0.44618	2.632000	0.89209	0.491000	0.48974	GAG		0.622	CAMKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207456.1	NM_032294, NM_172206, NM_172207	Missense_Mutation	G	3788622	C	G	3788622	5	3	659	1	0	0	0	0	0	0	1	0	2608	695	24	4	1339	4	CAMKK1	17	3788622	Splice_Site	SNP	C	TCGA-GL-6846-01A-11D-1961-08	2250391	3788622	77406588	51	35874											
ZNF232	7775	hgsc.bcm.edu	37	17	5009512	5009512	+	Silent	SNP	A	A	G			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr17:5009512A>G	ENST00000250076.3	-	5	1596	c.942T>C	c.(940-942)taT>taC	p.Y314Y	ZNF232_ENST00000416429.2_3'UTR|ZNF232_ENST00000575898.1_Silent_p.Y305Y|ZNF232_ENST00000575538.1_5'Flank	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	287					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						GATGTGAGTTATAAATGAAGG	0.428																																																0													111	110	111					17																	5009512		2203	4300	6503	SO:0001819	synonymous_variant	7775			AF080169	CCDS11068.1	17p13.2	2013-01-09			ENSG00000167840	ENSG00000167840		"-", "Zinc fingers, C2H2-type"	13026	protein-coding gene	gene with protein product						11311944	Standard	NM_014519		Approved	ZSCAN11	uc002gat.3	Q9UNY5	OTTHUMG00000099450	ENST00000250076.3:c.942T>C	chr17.hg19:g.5009512A>G				Silent	SNP	ENST00000250076.3	hg19	CCDS11068.1																																																																																				0.428	ZNF232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216915.1	NM_014519		G	5009512	A	G	5009512	2	3	659	1	0	0	0	0	0	0	0	1	17790	456	16	3		3	ZNF232	17	5009512	Silent	SNP	A	TCGA-GL-6846-01A-11D-1961-08	1220890	5009512	76185698	52	35875											
SENP3	26168	hgsc.bcm.edu	37	17	7468055	7468055	+	Missense_Mutation	SNP	G	G	T	rs544419637		TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr17:7468055G>T	ENST00000429205.2	+	3	878	c.829G>T	c.(829-831)Ggg>Tgg	p.G277W	SENP3_ENST00000321337.7_Missense_Mutation_p.G277W|SENP3-EIF4A1_ENST00000579777.1_RNA|SENP3_ENST00000578868.1_3'UTR			Q9H4L4	SENP3_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 3	277						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)				GTGCAGCATCGGGGACCATGT	0.617																																																0													48	50	49					17																	7468055		1964	4161	6125	SO:0001583	missense	26168			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.829G>T	chr17.hg19:g.7468055G>T	ENSP00000403712:p.Gly277Trp		Q66K15|Q86VS7|Q96PS4|Q9Y3W9	Missense_Mutation	SNP	ENST00000429205.2	hg19		.	.	.	.	.	.	.	.	.	.	G	19.94	3.920082	0.73098	.	.	ENSG00000161956	ENST00000321337;ENST00000429205	T;T	0.57752	0.38;0.39	5.98	5.98	0.97165	.	0.000000	0.64402	D	0.000019	T	0.59432	0.2193	N	0.19112	0.55	0.42176	D	0.99166	D	0.89917	1.0	D	0.87578	0.998	T	0.60591	-0.7233	10	0.48119	T	0.1	-14.5285	15.9367	0.79717	0.0:0.0:1.0:0.0	.	277	Q9H4L4	SENP3_HUMAN	W	277	ENSP00000314029:G277W;ENSP00000403712:G277W	ENSP00000314029:G277W	G	+	1	0	SENP3	7408779	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.877000	0.69675	2.837000	0.97791	0.591000	0.81541	GGG		0.617	SENP3-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015670		T	7468055	G	T	7468055	3	4	659	1	0	0	0	0	1	0	0	0	14054	1116	39	4	835	4	SENP3	17	7468055	Missense_Mutation	SNP	G	TCGA-GL-6846-01A-11D-1961-08	2458543	7468055	73727155	53	35876											
SLC13A2	9058	hgsc.bcm.edu	37	17	26818545	26818545	+	Missense_Mutation	SNP	G	G	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr17:26818545G>A	ENST00000314669.5	+	5	1085	c.665G>A	c.(664-666)aGc>aAc	p.S222N	SLC13A2_ENST00000537681.1_Missense_Mutation_p.S151N|SLC13A2_ENST00000444914.3_Missense_Mutation_p.S271N|SLC13A2_ENST00000545060.1_Missense_Mutation_p.S179N	NM_003984.3	NP_003975.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	222					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)	CAGTGCATGAGCCTGTGCGTG	0.617																																																0													69	64	66					17																	26818545		2203	4300	6503	SO:0001583	missense	9058			U26209	CCDS11231.1, CCDS54098.1	17p13.2	2013-05-22			ENSG00000007216	ENSG00000007216		"Solute carriers"	10917	protein-coding gene	gene with protein product		604148				8967342, 10343111	Standard	NM_001145975		Approved	NaDC-1	uc010wan.2	Q13183	OTTHUMG00000132523	ENST00000314669.5:c.665G>A	chr17.hg19:g.26818545G>A	ENSP00000316202:p.Ser222Asn		B2RBI9|B4DPL1|E7ETH5|Q4VAR7	Missense_Mutation	SNP	ENST00000314669.5	hg19	CCDS11231.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.265898	0.40095	.	.	ENSG00000007216	ENST00000314669;ENST00000444914;ENST00000545060;ENST00000541739;ENST00000537681	T;T;T;T	0.03124	4.04;4.04;4.04;4.04	5.62	4.63	0.57726	.	0.200462	0.64402	D	0.000010	T	0.14227	0.0344	M	0.81341	2.54	0.42186	D	0.991709	D;B;B;B;B	0.65815	0.995;0.007;0.041;0.138;0.041	P;B;B;B;B	0.62560	0.904;0.098;0.081;0.073;0.081	T	0.01621	-1.1310	10	0.35671	T	0.21	-13.5366	9.6615	0.39958	0.0762:0.413:0.5108:0.0	.	179;271;178;151;222	F5GWV6;E7ETH5;B4E1M6;G3V1L2;Q13183	.;.;.;.;S13A2_HUMAN	N	222;271;179;178;151	ENSP00000316202:S222N;ENSP00000392411:S271N;ENSP00000441935:S179N;ENSP00000440802:S151N	ENSP00000316202:S222N	S	+	2	0	SLC13A2	23842672	1.000000	0.71417	1.000000	0.80357	0.705000	0.40729	2.293000	0.43558	1.346000	0.45694	0.557000	0.71058	AGC		0.617	SLC13A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255722.1	NM_003984		A	26818545	G	A	26818545	3	1	659	1	0	0	0	0	1	0	0	0	14398	971	34	2	830	2	SLC13A2	17	26818545	Missense_Mutation	SNP	G	TCGA-GL-6846-01A-11D-1961-08	19350490	26818545	54376665	54	35877											
SPAG5	10615	hgsc.bcm.edu	37	17	26919846	26919846	+	Missense_Mutation	SNP	T	T	C			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr17:26919846T>C	ENST00000321765.5	-	3	748	c.416A>G	c.(415-417)cAg>cGg	p.Q139R		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	139					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)				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)					GTCTTGTTGCTGCCCCAGTGG	0.453																																																0													190	176	180					17																	26919846		2203	4300	6503	SO:0001583	missense	10615			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.416A>G	chr17.hg19:g.26919846T>C	ENSP00000323300:p.Gln139Arg		O95213|Q9BWE8|Q9NT17|Q9UFE6	Missense_Mutation	SNP	ENST00000321765.5	hg19	CCDS32594.1	.	.	.	.	.	.	.	.	.	.	T	6.118	0.390021	0.11581	.	.	ENSG00000076382	ENST00000321765	T	0.25912	1.77	5.94	2.35	0.29111	.	0.760636	0.11855	N	0.522906	T	0.23210	0.0561	M	0.67953	2.075	0.25392	N	0.988515	P	0.49090	0.919	B	0.39738	0.308	T	0.32322	-0.9911	10	0.87932	D	0	-0.1373	3.1967	0.06635	0.1858:0.187:0.0:0.6271	.	139	Q96R06	SPAG5_HUMAN	R	139	ENSP00000323300:Q139R	ENSP00000323300:Q139R	Q	-	2	0	SPAG5	23943973	0.917000	0.31117	0.981000	0.43875	0.152000	0.21847	0.898000	0.28404	1.069000	0.40788	0.533000	0.62120	CAG		0.453	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390564.2	NM_006461		C	26919846	T	C	26919846	3	2	659	1	0	0	0	0	1	0	0	0	14987	1580	55	3	3253	3	SPAG5	17	26919846	Missense_Mutation	SNP	T	TCGA-GL-6846-01A-11D-1961-08	101301	26919846	54275364	55	35878											
FAM20A	54757	hgsc.bcm.edu	37	17	66538845	66538846	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	AA	AA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr17:66538845_66538846delAA	ENST00000592554.1	-	6	1639_1640	c.917_918delTT	c.(916-918)tttfs	p.F306fs	PRKAR1A_ENST00000588188.2_Intron|AC079210.1_ENST00000600820.1_5'Flank|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	306					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)					CTGGAGAGACAAAGAAAACACT	0.525																																																0																																										SO:0001589	frameshift_variant	54757			AK056789	CCDS11679.1	17q24.2	2014-02-07			ENSG00000108950	ENSG00000108950			23015	protein-coding gene	gene with protein product		611062					Standard	NM_017565		Approved	DKFZp434F2322	uc002jho.3	Q96MK3	OTTHUMG00000180152	ENST00000592554.1:c.917_918delTT	chr17.hg19:g.66538845_66538846delAA	ENSP00000468308:p.Phe306fs		B2RN47|B2RN49|Q9UF95	Frame_Shift_Del	DEL	ENST00000592554.1	hg19	CCDS11679.1																																																																																				0.525	FAM20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450029.2	NM_017565		-	66538846	AA	-	66538845	7	5	659	1	0	1	0	1	0	0	0	0	5539	127	5	0	731	0	FAM20A	17	66538845	Frame_Shift_Del	DEL	AA	TCGA-GL-6846-01A-11D-1961-08	39618999	66538845	14656365	56	35879											
CTAGE1	64693	hgsc.bcm.edu	37	18	19997258	19997258	+	5'Flank	SNP	G	G	A	rs372127240		TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr18:19997258G>A	ENST00000525417.1	-	0	0				CTAGE1_ENST00000391403.2_Missense_Mutation_p.R173W			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)					ATCTCCAACCGTTCTTCATTC	0.388																																																0								G	TRP/ARG	0,4314		0,0,2157	95	100	99		517	0.9	0	18		99	2,8574		0,2,4286	no	missense	CTAGE1	NM_172241.2	101	0,2,6443	AA,AG,GG		0.0233,0.0,0.0155	probably-damaging	173/746	19997258	2,12888	2157	4288	6445	SO:0001631	upstream_gene_variant	64693			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			chr18.hg19:g.19997258G>A	Exception_encountered		B0YIZ3	Missense_Mutation	SNP	ENST00000525417.1	hg19		.	.	.	.	.	.	.	.	.	.	G	12.14	1.849249	0.32699	0.0	2.33E-4	ENSG00000212710	ENST00000391403	T	0.29655	1.56	0.909	0.909	0.19332	.	.	.	.	.	T	0.47581	0.1453	M	0.78637	2.42	0.09310	N	1	D	0.76494	0.999	D	0.64321	0.924	T	0.22941	-1.0202	8	.	.	.	.	5.2011	0.15264	0.0:0.0:1.0:0.0	.	173	Q96RT6	CTGE2_HUMAN	W	173	ENSP00000375220:R173W	.	R	-	1	2	CTAGE1	18251256	0.980000	0.34600	0.003000	0.11579	0.004000	0.04260	0.579000	0.23788	0.776000	0.33473	0.449000	0.29647	CGG		0.388	CTAGE1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000386767.1	NM_022663, NM_172241		A	19997258	G	A	19997258	1	1	659	0	1	0	0	0	0	0	0	0	3994	1144	40	1		1	CTAGE1	18	19997258	5'Flank	SNP	G	TCGA-GL-6846-01A-11D-1961-08		19997258	58079990	57	35880											
LGI4	163175	hgsc.bcm.edu	37	19	35617247	35617247	+	Missense_Mutation	SNP	A	A	G			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr19:35617247A>G	ENST00000310123.3	-	8	1745	c.1226T>C	c.(1225-1227)gTc>gCc	p.V409A	LGI4_ENST00000493050.1_5'UTR|LGI4_ENST00000392225.3_Missense_Mutation_p.S435P	NM_139284.2	NP_644813.1	Q8N135	LGI4_HUMAN	leucine-rich repeat LGI family, member 4	409					adult locomotory behavior (GO:0008344)|glial cell proliferation (GO:0014009)|myelination in peripheral nervous system (GO:0022011)|neuron maturation (GO:0042551)	extracellular space (GO:0005615)				endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			TGTGGCATAGACATCCTCGGC	0.682																																																0													35	32	33					19																	35617247		2203	4300	6503	SO:0001583	missense	163175			AJ487519	CCDS12444.1	19q13.13	2008-07-03			ENSG00000153902	ENSG00000153902			18712	protein-coding gene	gene with protein product		608303				12023020	Standard	NM_139284		Approved		uc002nxx.2	Q8N135	OTTHUMG00000044558	ENST00000310123.3:c.1226T>C	chr19.hg19:g.35617247A>G	ENSP00000312273:p.Val409Ala		B2RN53|B9EGS7|Q5M8T1	Missense_Mutation	SNP	ENST00000310123.3	hg19	CCDS12444.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.1|21.1	4.097418|4.097418	0.76870|0.76870	.|.	.|.	ENSG00000153902|ENSG00000153902	ENST00000392225|ENST00000310123;ENST00000437421	T|T	0.68331|0.78595	-0.32|-1.19	4.66|4.66	4.66|4.66	0.58398|0.58398	.|.	.|0.000000	.|0.52532	.|D	.|0.000079	D|D	0.84261|0.84261	0.5433|0.5433	L|L	0.58583|0.58583	1.82|1.82	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.999;0.999	.|D;D	.|0.85130	.|0.997;0.997	T|T	0.83349|0.83349	-0.0004|-0.0004	7|10	0.87932|0.37606	D|T	0|0.19	.|.	12.0653|12.0653	0.53583|0.53583	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|320;409	.|Q658V8;Q8N135	.|.;LGI4_HUMAN	P|A	435|409	ENSP00000376059:S435P|ENSP00000312273:V409A	ENSP00000376059:S435P|ENSP00000312273:V409A	S|V	-|-	1|2	0|0	LGI4|LGI4	40309087|40309087	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.386000|7.386000	0.79775|0.79775	1.745000|1.745000	0.51790|0.51790	0.477000|0.477000	0.44152|0.44152	TCT|GTC		0.682	LGI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103963.1			G	35617247	A	G	35617247	3	3	659	1	0	0	0	0	1	0	0	0	8756	275	10	3	395	3	LGI4	19	35617247	Missense_Mutation	SNP	A	TCGA-GL-6846-01A-11D-1961-08		35617247	23511736	58	35881											
ZNF546	339327	hgsc.bcm.edu	37	19	40520846	40520846	+	Missense_Mutation	SNP	G	G	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr19:40520846G>A	ENST00000347077.4	+	7	1885	c.1669G>A	c.(1669-1671)Gaa>Aaa	p.E557K	ZNF546_ENST00000600094.1_Missense_Mutation_p.E531K|ZNF546_ENST00000596894.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	557					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TGAATGTAAGGAATGTGGGAA	0.388																																																0													61	59	59					19																	40520846		2203	4300	6503	SO:0001583	missense	339327			BC045649	CCDS12548.1	19q13.2	2013-01-08				ENSG00000187187		"Zinc fingers, C2H2-type", "-"	28671	protein-coding gene	gene with protein product				ZNF49		12477932	Standard	XM_005258853		Approved	MGC43537	uc002oms.2	Q86UE3		ENST00000347077.4:c.1669G>A	chr19.hg19:g.40520846G>A	ENSP00000339823:p.Glu557Lys		A8K913	Missense_Mutation	SNP	ENST00000347077.4	hg19	CCDS12548.1	.	.	.	.	.	.	.	.	.	.	g	15.69	2.907182	0.52333	.	.	ENSG00000187187	ENST00000347077;ENST00000392042	T	0.07327	3.2	3.0	-0.424	0.12321	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06781	0.0173	L	0.41415	1.275	0.09310	N	0.999998	B	0.06786	0.001	B	0.06405	0.002	T	0.35624	-0.9781	9	0.56958	D	0.05	.	4.6522	0.12601	0.23:0.1839:0.5862:0.0	.	557	Q86UE3	ZN546_HUMAN	K	557;166	ENSP00000339823:E557K	ENSP00000339823:E557K	E	+	1	0	ZNF546	45212686	0.001000	0.12720	0.990000	0.47175	0.997000	0.91878	0.499000	0.22546	-0.002000	0.14469	0.655000	0.94253	GAA		0.388	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462495.2	NM_178544		A	40520846	G	A	40520846	3	1	659	1	0	0	0	0	1	0	0	0	17983	1175	41	2	1687	2	ZNF546	19	40520846	Missense_Mutation	SNP	G	TCGA-GL-6846-01A-11D-1961-08	4903599	40520846	18608137	59	35882											
EGLN2	112398	hgsc.bcm.edu	37	19	41306603	41306603	+	Nonsense_Mutation	SNP	T	T	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr19:41306603T>A	ENST00000593726.1	+	1	1154	c.126T>A	c.(124-126)tgT>tgA	p.C42*	RAB4B-EGLN2_ENST00000594136.1_3'UTR|CTC-490E21.12_ENST00000601627.1_5'Flank|EGLN2_ENST00000303961.4_Nonsense_Mutation_p.C42*|EGLN2_ENST00000406058.2_Nonsense_Mutation_p.C42*|EGLN2_ENST00000594140.1_5'Flank			Q96KS0	EGLN2_HUMAN	egl-9 family hypoxia-inducible factor 2	42					cell redox homeostasis (GO:0045454)|cellular response to hypoxia (GO:0071456)|intracellular estrogen receptor signaling pathway (GO:0030520)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|positive regulation of protein catabolic process (GO:0045732)|regulation of cell growth (GO:0001558)|regulation of neuron apoptotic process (GO:0043523)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to hypoxia (GO:0001666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ferrous iron binding (GO:0008198)|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)|oxygen sensor activity (GO:0019826)|peptidyl-proline 4-dioxygenase activity (GO:0031545)			breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Vitamin C(DB00126)	ACCTGCCCTGTCCCCTGCTCC	0.652																																																0													55	47	50					19																	41306603		2203	4300	6503	SO:0001587	stop_gained	112398			AJ310544	CCDS12567.1	19q13.2	2013-08-21	2013-08-21		ENSG00000269858	ENSG00000269858			14660	protein-coding gene	gene with protein product	"HIF prolyl hydroxylase 1"	606424	"EGL nine (C.elegans) homolog 2", "egl nine homolog 2 (C. elegans)"				Standard	NM_080732		Approved	PHD1, HIFPH1	uc002oph.3	Q96KS0		ENST00000593726.1:c.126T>A	chr19.hg19:g.41306603T>A	ENSP00000469686:p.Cys42*		A8K5S0|Q8WWY4|Q9BV14	Nonsense_Mutation	SNP	ENST00000593726.1	hg19	CCDS12567.1	.	.	.	.	.	.	.	.	.	.	T	38	6.815813	0.97861	.	.	ENSG00000171570	ENST00000303961;ENST00000406058	.	.	.	4.15	1.91	0.25777	.	0.092299	0.46758	D	0.000268	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.0525	7.5512	0.27798	0.0:0.1918:0.0:0.8082	.	.	.	.	X	42	.	ENSP00000307080:C42X	C	+	3	2	EGLN2	45998443	0.372000	0.25064	0.976000	0.42696	0.984000	0.73092	0.337000	0.19841	0.198000	0.20407	0.402000	0.26972	TGT		0.652	EGLN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463218.1			A	41306603	T	A	41306603	4	1	659	1	0	0	0	0	0	1	0	0	4971	1673	58	5	128	5	EGLN2	19	41306603	Nonsense_Mutation	SNP	T	TCGA-GL-6846-01A-11D-1961-08	785757	41306603	17822380	60	35883											
SLC24A3	57419	hgsc.bcm.edu	37	20	19665982	19665982	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr20:19665982C>T	ENST00000328041.6	+	12	1498	c.1301C>T	c.(1300-1302)cCg>cTg	p.P434L		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	434					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						gatgaagGACCGTACACACCA	0.488																																																0													166	142	150					20																	19665982		2203	4300	6503	SO:0001583	missense	57419			AF169257	CCDS13140.1	20p13	2013-05-22			ENSG00000185052	ENSG00000185052		"Solute carriers"	10977	protein-coding gene	gene with protein product		609839					Standard	NM_020689		Approved		uc002wrl.3	Q9HC58	OTTHUMG00000031993	ENST00000328041.6:c.1301C>T	chr20.hg19:g.19665982C>T	ENSP00000333519:p.Pro434Leu		B1AKV7|Q9BQJ9|Q9BQL7|Q9BQY3|Q9H519	Missense_Mutation	SNP	ENST00000328041.6	hg19	CCDS13140.1	.	.	.	.	.	.	.	.	.	.	C	13.61	2.287750	0.40494	.	.	ENSG00000185052	ENST00000328041	T	0.62498	0.02	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000001	T	0.62036	0.2395	M	0.61703	1.905	0.80722	D	1	B	0.17667	0.023	B	0.12837	0.008	T	0.56486	-0.7971	9	.	.	.	.	19.3646	0.94456	0.0:1.0:0.0:0.0	.	434	Q9HC58	NCKX3_HUMAN	L	434	ENSP00000333519:P434L	.	P	+	2	0	SLC24A3	19613982	1.000000	0.71417	0.833000	0.33012	0.408000	0.30992	7.465000	0.80898	2.668000	0.90789	0.563000	0.77884	CCG		0.488	SLC24A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078207.4	NM_020689		T	19665982	C	T	19665982	3	4	659	1	0	0	0	0	1	0	0	0	14473	652	23	1	1347	1	SLC24A3	20	19665982	Missense_Mutation	SNP	C	TCGA-GL-6846-01A-11D-1961-08		19665982	43359538	61	35884											
ARFGEF2	10564	hgsc.bcm.edu	37	20	47641990	47641990	+	Silent	SNP	C	C	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr20:47641990C>T	ENST00000371917.4	+	36	4896	c.4896C>T	c.(4894-4896)taC>taT	p.Y1632Y		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1632					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)			ACTCCAATTACGAGCAGCGGA	0.473																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)											0													97	80	85					20																	47641990		2203	4300	6503	SO:0001819	synonymous_variant	10564			AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"A-kinase anchor proteins"	15853	protein-coding gene	gene with protein product	"Brefeldin A-inhibited guanine nucleotide-exchange protein 2"	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.4896C>T	chr20.hg19:g.47641990C>T			Q5TFT9|Q9NTS1	Silent	SNP	ENST00000371917.4	hg19	CCDS13411.1																																																																																				0.473	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		T	47641990	C	T	47641990	2	4	659	1	0	0	0	0	0	0	0	1	853	547	19	1		1	ARFGEF2	20	47641990	Silent	SNP	C	TCGA-GL-6846-01A-11D-1961-08	27976008	47641990	15383530	62	35885											
KRTAP10-3	386682	hgsc.bcm.edu	37	21	45978008	45978008	+	Silent	SNP	G	G	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr21:45978008G>A	ENST00000391620.1	-	1	635	c.591C>T	c.(589-591)ctC>ctT	p.L197L	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN	keratin associated protein 10-3	197	18 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				kidney(1)|lung(4)|prostate(1)|skin(1)	7						GGCGGCAGAGGAGGGACACGC	0.701																																																0													29	35	33					21																	45978008		2199	4295	6494	SO:0001819	synonymous_variant	386682			AJ566383	CCDS42956.1	21q22.3	2007-10-05			ENSG00000212935	ENSG00000212935		"Keratin associated proteins"	22968	protein-coding gene	gene with protein product				KRTAP18-3			Standard	NM_198696		Approved	KAP10.3, KAP18.3	uc002zfj.1	P60369	OTTHUMG00000057628	ENST00000391620.1:c.591C>T	chr21.hg19:g.45978008G>A			A3KN67|Q70LJ4	Silent	SNP	ENST00000391620.1	hg19	CCDS42956.1																																																																																				0.701	KRTAP10-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128031.1			A	45978008	G	A	45978008	2	1	659	1	0	0	0	0	0	0	0	1	8512	1161	41	2		2	KRTAP10-3	21	45978008	Silent	SNP	G	TCGA-GL-6846-01A-11D-1961-08		45978008	2151887	63	35886											
SMARCB1	6598	hgsc.bcm.edu	37	22	24175838	24175839	+	Frame_Shift_Ins	INS	-	-	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr22:24175838_24175839insT	ENST00000263121.7	+	8	1262_1263	c.1066_1067insT	c.(1066-1068)ctgfs	p.L356fs	SMARCB1_ENST00000407422.3_Frame_Shift_Ins_p.L347fs|SMARCB1_ENST00000407082.3_Frame_Shift_Ins_p.L310fs|SMARCB1_ENST00000344921.6_Frame_Shift_Ins_p.L365fs|DERL3_ENST00000464023.1_5'Flank	NM_003073.3	NP_003064.2	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	356					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)				GCTGGAGACTCTGACAGACGCT	0.629			"D, N, F, S"		malignant rhabdoid	malignant rhabdoid																																yes	Rec	yes	Rhabdoid predisposition syndrome	22	22q11	6598	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1"		M	3	Unknown(2)|Deletion - In frame(1)	central_nervous_system(3)																																								SO:0001589	frameshift_variant	6598			U04847	CCDS13817.1, CCDS46671.1	22q11.23	2014-09-17			ENSG00000099956	ENSG00000099956			11103	protein-coding gene	gene with protein product	"sucrose nonfermenting, yeast, homolog-like 1", "integrase interactor 1", "malignant rhabdoid tumor suppressor", "protein phosphatase 1, regulatory subunit 144"	601607		SNF5L1		7801128, 10319872, 10365963	Standard	NM_003073		Approved	BAF47, Ini1, Snr1, hSNFS, Sfh1p, RDT, PPP1R144	uc002zyb.3	Q12824	OTTHUMG00000150737	ENST00000263121.7:c.1067dupT	chr22.hg19:g.24175839_24175839dupT	ENSP00000263121:p.Leu356fs		O75784|O95474|Q17S11|Q38GA1|Q76N08|Q9UBH2	Frame_Shift_Ins	INS	ENST00000263121.7	hg19	CCDS13817.1																																																																																				0.629	SMARCB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319872.1	NM_003073		T	24175839	-	T	24175838	7	5	659	1	0	1	1	0	0	0	0	0	14780	912	32	0	1096	0	SMARCB1	22	24175838	Frame_Shift_Ins	INS	-	TCGA-GL-6846-01A-11D-1961-08		24175838	27128728	64	35887											
MEGF6	1953	hgsc.bcm.edu	37	1	3511980	3511980	+	Missense_Mutation	SNP	A	A	G			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr1:3511980A>G	ENST00000356575.4	-	3	524	c.298T>C	c.(298-300)Tat>Cat	p.Y100H		NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	100	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.					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)		TCCGTGGTATACACCTGCCTG	0.632																																					Ovarian(73;978 3658)											0													36	44	41					1																	3511980		2027	4179	6206	SO:0001583	missense	1953			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.298T>C	chr1.hg19:g.3511980A>G	ENSP00000348982:p.Tyr100His		Q4AC86|Q5VV39	Missense_Mutation	SNP	ENST00000356575.4	hg19	CCDS41237.1	.	.	.	.	.	.	.	.	.	.	a	15.35	2.806840	0.50421	.	.	ENSG00000162591	ENST00000356575	D	0.85258	-1.96	3.92	3.92	0.45320	EMI domain (1);	0.000000	0.64402	U	0.000003	D	0.84991	0.5595	M	0.76574	2.34	0.39571	D	0.969271	D	0.53312	0.959	P	0.46076	0.503	D	0.86605	0.1869	10	0.59425	D	0.04	-38.3019	9.703	0.40198	1.0:0.0:0.0:0.0	.	100	O75095	MEGF6_HUMAN	H	100	ENSP00000348982:Y100H	ENSP00000348982:Y100H	Y	-	1	0	MEGF6	3501840	1.000000	0.71417	0.906000	0.35671	0.306000	0.27790	6.186000	0.72026	1.726000	0.51525	0.398000	0.26397	TAT		0.632	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	NM_001409		G	3511980	A	G	3511980	3	3	660	1	0	0	0	0	1	0	0	0	9464	391	14	3	4467	3	MEGF6	1	3511980	Missense_Mutation	SNP	A	TCGA-GL-7773-01A-11D-2136-08		3511980	245738641	1	35888											
TCEB3	6924	hgsc.bcm.edu	37	1	24080614	24080614	+	Missense_Mutation	SNP	A	A	C			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr1:24080614A>C	ENST00000418390.2	+	6	1911	c.1640A>C	c.(1639-1641)gAa>gCa	p.E547A	TCEB3_ENST00000609199.1_Missense_Mutation_p.E521A	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	547					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)		CAGGAAGAAGAAGAAGCTGGA	0.473																																																0													107	99	102					1																	24080614		2203	4300	6503	SO:0001583	missense	6924			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.1640A>C	chr1.hg19:g.24080614A>C	ENSP00000395574:p.Glu547Ala		B2R7Q8|Q8IXH1	Missense_Mutation	SNP	ENST00000418390.2	hg19	CCDS239.2	.	.	.	.	.	.	.	.	.	.	A	23.4	4.405738	0.83230	.	.	ENSG00000011007	ENST00000418390	T	0.10382	2.88	5.71	5.71	0.89125	.	0.243724	0.31936	N	0.006831	T	0.15435	0.0372	M	0.70275	2.135	0.58432	D	0.999995	D	0.54397	0.966	B	0.42462	0.388	T	0.01269	-1.1400	10	0.72032	D	0.01	-23.7872	10.6424	0.45600	0.9197:0.0:0.0803:0.0	.	547	Q14241	ELOA1_HUMAN	A	547	ENSP00000395574:E547A	ENSP00000395574:E547A	E	+	2	0	TCEB3	23953201	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.929000	0.70096	2.179000	0.69175	0.379000	0.24179	GAA		0.473	TCEB3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000008230.2	NM_003198		C	24080614	A	C	24080614	3	2	660	1	0	0	0	0	1	0	0	0	15686	246	9	5	1662	5	TCEB3	1	24080614	Missense_Mutation	SNP	A	TCGA-GL-7773-01A-11D-2136-08	20568634	24080614	225170007	2	35889											
PUM1	9698	hgsc.bcm.edu	37	1	31479871	31479871	+	Missense_Mutation	SNP	G	G	C			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr1:31479871G>C	ENST00000257075.5	-	4	604	c.511C>G	c.(511-513)Caa>Gaa	p.Q171E	PUM1_ENST00000423018.2_Intron|PUM1_ENST00000440538.2_Missense_Mutation_p.Q171E|PUM1_ENST00000424085.2_Intron|PUM1_ENST00000373742.2_Intron|PUM1_ENST00000426105.2_Missense_Mutation_p.Q171E|PUM1_ENST00000373741.4_Missense_Mutation_p.Q207E|PUM1_ENST00000373747.3_Missense_Mutation_p.Q171E	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	171					membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		TCTCGCCATTGATCACCCAGG	0.418																																																0													301	283	289					1																	31479871		2203	4300	6503	SO:0001583	missense	9698			AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"pumilio (Drosophila) homolog 1", "pumilio homolog 1 (Drosophila)"				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.511C>G	chr1.hg19:g.31479871G>C	ENSP00000257075:p.Gln171Glu		A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Missense_Mutation	SNP	ENST00000257075.5	hg19	CCDS338.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.154|3.154	-0.173618|-0.173618	0.06421|0.06421	.|.	.|.	ENSG00000134644|ENSG00000134644	ENST00000257075;ENST00000373747;ENST00000426105;ENST00000440538;ENST00000373741;ENST00000543952|ENST00000525843	T;T;T;T;T|.	0.17691|.	2.26;2.53;2.54;2.54;2.53|.	5.26|5.26	5.26|5.26	0.73747|0.73747	.|.	0.000000|.	0.64402|.	D|.	0.000004|.	T|.	0.55800|.	0.1943|.	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	B;B;B;B|.	0.15473|.	0.002;0.013;0.001;0.001|.	B;B;B;B|.	0.12156|.	0.002;0.007;0.001;0.001|.	T|.	0.49513|.	-0.8932|.	10|.	0.05620|.	T|.	0.96|.	-4.9673|-4.9673	19.0513|19.0513	0.93046|0.93046	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	207;171;171;171|.	Q5T1Z8;Q14671-2;Q14671;E9PCJ0|.	.;.;PUM1_HUMAN;.|.	E|X	171;171;171;171;207;171|187	ENSP00000257075:Q171E;ENSP00000362852:Q171E;ENSP00000391723:Q171E;ENSP00000401777:Q171E;ENSP00000362846:Q207E|.	ENSP00000257075:Q171E|.	Q|S	-|-	1|2	0|0	PUM1|PUM1	31252458|31252458	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.482000|4.482000	0.60257|0.60257	2.736000|2.736000	0.93811|0.93811	0.557000|0.557000	0.71058|0.71058	CAA|TCA		0.418	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000010671.1			C	31479871	G	C	31479871	3	2	660	1	0	0	0	0	1	0	0	0	12831	1299	45	4	3131	4	PUM1	1	31479871	Missense_Mutation	SNP	G	TCGA-GL-7773-01A-11D-2136-08	7399257	31479871	217770750	3	35890											
CDC20	991	hgsc.bcm.edu	37	1	43828621	43828621	+	Splice_Site	SNP	G	G	A			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr1:43828621G>A	ENST00000372462.1	+	10	1524		c.e10-1		CDC20_ENST00000310955.6_Splice_Site|ELOVL1_ENST00000470769.1_5'Flank			Q12834	CDC20_HUMAN	cell division cycle 20						activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle (GO:0007049)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein ubiquitination (GO:0016567)|regulation of dendrite development (GO:0050773)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|spindle (GO:0005819)	enzyme binding (GO:0019899)|protein C-terminus binding (GO:0008022)			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ATTTGCTCCAGGTCACACATC	0.532																																					Esophageal Squamous(137;1154 1759 10362 10401 46925)											0													72	70	70					1																	43828621		2203	4300	6503	SO:0001630	splice_region_variant	991			U05340	CCDS484.1	1p34.1	2013-01-17	2013-01-17		ENSG00000117399	ENSG00000117399		"WD repeat domain containing"	1723	protein-coding gene	gene with protein product		603618	"CDC20 (cell division cycle 20, S. cerevisiae, homolog)", "CDC20 cell division cycle 20 homolog (S. cerevisiae)", "cell division cycle 20 homolog (S. cerevisiae)"			7513050, 9353311	Standard	NM_001255		Approved	p55CDC, CDC20A	uc001cix.3	Q12834	OTTHUMG00000007420	ENST00000372462.1:c.1322-1G>A	chr1.hg19:g.43828621G>A			B2R6Z6|D3DPJ1|Q5JUY4|Q9BW56|Q9UQI9	Splice_Site	SNP	ENST00000372462.1	hg19	CCDS484.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.972600	0.74246	.	.	ENSG00000117399	ENST00000437896;ENST00000310955;ENST00000372462	.	.	.	5.76	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7097	0.69222	0.0697:0.0:0.9303:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDC20	43601208	1.000000	0.71417	0.994000	0.49952	0.916000	0.54674	9.338000	0.96553	1.431000	0.47355	0.561000	0.74099	.		0.532	CDC20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019488.1	NM_001255	Intron	A	43828621	G	A	43828621	5	1	660	1	0	0	0	0	0	0	1	0	3061	1014	35	2	1359	2	CDC20	1	43828621	Splice_Site	SNP	G	TCGA-GL-7773-01A-11D-2136-08	12348750	43828621	205422000	4	35891											
STIL	6491	hgsc.bcm.edu	37	1	47717027	47717027	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr1:47717027delT	ENST00000360380.3	-	18	4008	c.3645delA	c.(3643-3645)ccafs	p.P1215fs	STIL_ENST00000243182.6_Frame_Shift_Del_p.P1215fs|STIL_ENST00000371877.3_Frame_Shift_Del_p.P1216fs|STIL_ENST00000396221.2_Frame_Shift_Del_p.P1198fs|STIL_ENST00000337817.5_Frame_Shift_Del_p.P1215fs	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	1215					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)				CTAAGAAAGCTGGCTTTTCAG	0.423																																																0													120	121	121					1																	47717027		2203	4300	6503	SO:0001589	frameshift_variant	6491			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.3645delA	chr1.hg19:g.47717027delT	ENSP00000353544:p.Pro1215fs		Q5T0C5|Q68CN9	Frame_Shift_Del	DEL	ENST00000360380.3	hg19	CCDS548.1																																																																																				0.423	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021649.2	NM_003035		-	47717027	T	-	47717027	7	5	660	1	0	1	0	1	0	0	0	0	15287	1567	55	0	222	0	STIL	1	47717027	Frame_Shift_Del	DEL	T	TCGA-GL-7773-01A-11D-2136-08	3888406	47717027	201533594	5	35892											
PRPF38A	84950	hgsc.bcm.edu	37	1	52881045	52881046	+	In_Frame_Ins	INS	-	-	AGT			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr1:52881045_52881046insAGT	ENST00000257181.9	+	9	1069_1070	c.883_884insAGT	c.(883-885)aag>aAGTag	p.295_296ins*	PRPF38A_ENST00000474048.1_3'UTR	NM_032864.3	NP_116253.2	Q8NAV1	PR38A_HUMAN	pre-mRNA processing factor 38A	295					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			cervix(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|stomach(1)	9						GAGCCACTCAAAGTCTCCCGAA	0.401																																																0																																										SO:0001652	inframe_insertion	84950			AK092038	CCDS567.1	1p32.3	2013-10-03	2013-10-03		ENSG00000134748	ENSG00000134748			25930	protein-coding gene	gene with protein product			"PRP38 pre-mRNA processing factor 38 (yeast) domain containing A"			12477932	Standard	NM_032864		Approved	FLJ14936, Prp38	uc001ctw.4	Q8NAV1	OTTHUMG00000008199	ENST00000257181.9:c.884_886dupAGT	chr1.hg19:g.52881046_52881048dupAGT	ENSP00000257181:p.Ser296*		Q96JW1|Q9BVZ8	In_Frame_Ins	INS	ENST00000257181.9	hg19	CCDS567.1																																																																																				0.401	PRPF38A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022459.2	NM_032864		AGT	52881046	-	AGT	52881045	7	5	660	1	0	1	1	0	0	0	0	0	12572	15	1	0	917	0	PRPF38A	1	52881045	In_Frame_Ins	INS	-	TCGA-GL-7773-01A-11D-2136-08	5164018	52881045	196369576	6	35893											
DBT	1629	hgsc.bcm.edu	37	1	100680458	100680458	+	Missense_Mutation	SNP	G	G	T			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr1:100680458G>T	ENST00000370132.4	-	7	867	c.854C>A	c.(853-855)aCt>aAt	p.T285N	DBT_ENST00000370131.3_Missense_Mutation_p.T285N	NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2	285					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)		AACCAGTTCAGTAAGGTCAAT	0.373																																																0													77	73	75					1																	100680458		2203	4300	6503	SO:0001583	missense	1629			BC016675	CCDS767.1	1p31	2008-02-05	2004-11-15		ENSG00000137992	ENSG00000137992			2698	protein-coding gene	gene with protein product		248610	"dihydrolipoamide branched chain transacylase (E2 component of branched chain keto acid dehydrogenase complex; maple syrup urine disease)"			1420314, 1429740	Standard	NM_001918		Approved		uc001dta.3	P11182	OTTHUMG00000010921	ENST00000370132.4:c.854C>A	chr1.hg19:g.100680458G>T	ENSP00000359151:p.Thr285Asn		B2R811|Q5VVL8	Missense_Mutation	SNP	ENST00000370132.4	hg19	CCDS767.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.275507	0.40294	.	.	ENSG00000137992	ENST00000543138;ENST00000370132;ENST00000370131	T;T	0.51325	0.71;0.71	5.44	4.53	0.55603	2-oxoacid dehydrogenase acyltransferase, catalytic domain (1);Chloramphenicol acetyltransferase-like domain (1);	0.199950	0.51477	D	0.000096	T	0.38427	0.1040	M	0.81112	2.525	0.45634	D	0.99856	B;B	0.18310	0.002;0.027	B;B	0.24701	0.011;0.055	T	0.41875	-0.9484	10	0.42905	T	0.14	-14.8131	14.2831	0.66226	0.0716:0.0:0.9284:0.0	.	104;285	F5H1F9;P11182	.;ODB2_HUMAN	N	104;285;285	ENSP00000359151:T285N;ENSP00000359150:T285N	ENSP00000359150:T285N	T	-	2	0	DBT	100453046	1.000000	0.71417	0.998000	0.56505	0.945000	0.59286	3.303000	0.51858	1.299000	0.44798	0.655000	0.94253	ACT		0.373	DBT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030101.2	NM_001918		T	100680458	G	T	100680458	3	4	660	1	0	0	0	0	1	0	0	0	4260	1029	36	4	614	4	DBT	1	100680458	Missense_Mutation	SNP	G	TCGA-GL-7773-01A-11D-2136-08	47799413	100680458	148570163	7	35894											
CELSR2	1952	hgsc.bcm.edu	37	1	109807126	109807126	+	Missense_Mutation	SNP	C	C	A			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr1:109807126C>A	ENST00000271332.3	+	11	5401	c.5340C>A	c.(5338-5340)agC>agA	p.S1780R		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1780	Laminin G-like 2. {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)		TGGATCCCAGCCATGGGGAGA	0.617																																					NSCLC(158;1285 2011 34800 34852 42084)											0													162	141	148					1																	109807126		2203	4300	6503	SO:0001583	missense	1952			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3231	protein-coding gene	gene with protein product		604265	"cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.5340C>A	chr1.hg19:g.109807126C>A	ENSP00000271332:p.Ser1780Arg		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	hg19	CCDS796.1	.	.	.	.	.	.	.	.	.	.	C	11.57	1.677071	0.29783	.	.	ENSG00000143126	ENST00000271332	T	0.69435	-0.4	4.79	3.85	0.44370	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	.	.	.	.	T	0.34366	0.0895	L	0.36672	1.1	0.41718	D	0.989496	B	0.14438	0.01	B	0.09377	0.004	T	0.17776	-1.0358	9	0.15952	T	0.53	.	10.7084	0.45969	0.1481:0.709:0.1429:0.0	.	1780	Q9HCU4	CELR2_HUMAN	R	1780	ENSP00000271332:S1780R	ENSP00000271332:S1780R	S	+	3	2	CELSR2	109608649	0.905000	0.30787	0.998000	0.56505	0.796000	0.44982	1.567000	0.36407	1.193000	0.43086	0.561000	0.74099	AGC		0.617	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		A	109807126	C	A	109807126	3	1	660	1	0	0	0	0	1	0	0	0	3224	738	26	4	5382	4	CELSR2	1	109807126	Missense_Mutation	SNP	C	TCGA-GL-7773-01A-11D-2136-08	9126668	109807126	139443495	8	35895											
CHIA	27159	hgsc.bcm.edu	37	1	111862962	111862962	+	Silent	SNP	C	C	T			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr1:111862962C>T	ENST00000369740.1	+	12	1408	c.1305C>T	c.(1303-1305)aaC>aaT	p.N435N	CHIA_ENST00000343320.6_Silent_p.N435N|CHIA_ENST00000451398.2_Silent_p.N274N|CHIA_ENST00000353665.6_Silent_p.N274N|RP5-1125M8.2_ENST00000426321.1_RNA|CHIA_ENST00000483391.1_Silent_p.N274N|CHIA_ENST00000430615.1_Silent_p.N327N	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	435	Chitin-binding type-2. {ECO:0000255|PROSITE-ProRule:PRU00144}.				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)		TCAGAGCCAACGGCCTCTACC	0.597																																																0													68	62	64					1																	111862962		2203	4300	6503	SO:0001819	synonymous_variant	27159			AF290004	CCDS832.1, CCDS41368.1, CCDS58017.1	1p13.2	2008-05-14			ENSG00000134216	ENSG00000134216			17432	protein-coding gene	gene with protein product		606080				11085997	Standard	NM_021797		Approved	AMCase, TSA1902, CHIT2	uc001eas.4	Q9BZP6	OTTHUMG00000011165	ENST00000369740.1:c.1305C>T	chr1.hg19:g.111862962C>T			Q32W79|Q32W80|Q3B866|Q5U5Z5|Q5VUV4|Q86UD8|Q9ULY3|Q9ULY4	Silent	SNP	ENST00000369740.1	hg19	CCDS41368.1																																																																																				0.597	CHIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030710.1			T	111862962	C	T	111862962	2	4	660	1	0	0	0	0	0	0	0	1	3344	535	19	1		1	CHIA	1	111862962	Silent	SNP	C	TCGA-GL-7773-01A-11D-2136-08	2055836	111862962	137387659	9	35896											
RSBN1	54665	hgsc.bcm.edu	37	1	114308975	114308975	+	Missense_Mutation	SNP	G	G	C			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr1:114308975G>C	ENST00000261441.5	-	7	2099	c.2036C>G	c.(2035-2037)cCt>cGt	p.P679R	RSBN1_ENST00000369581.2_5'UTR	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	679						nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GACATTTCTAGGGATGAAGTA	0.443																																																0													102	94	97					1																	114308975		2203	4300	6503	SO:0001583	missense	54665			AK002082	CCDS862.1	1p13.1	2008-02-05			ENSG00000081019	ENSG00000081019			25642	protein-coding gene	gene with protein product		615858				12477932	Standard	NM_018364		Approved	FLJ11220, ROSBIN	uc001edq.3	Q5VWQ0	OTTHUMG00000011938	ENST00000261441.5:c.2036C>G	chr1.hg19:g.114308975G>C	ENSP00000261441:p.Pro679Arg		A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Missense_Mutation	SNP	ENST00000261441.5	hg19	CCDS862.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.042164	0.75732	.	.	ENSG00000081019	ENST00000261441	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.81088	0.4750	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.82230	-0.0560	9	0.87932	D	0	-8.3576	19.8965	0.96963	0.0:0.0:1.0:0.0	.	679	Q5VWQ0	RSBN1_HUMAN	R	679	.	ENSP00000261441:P679R	P	-	2	0	RSBN1	114110498	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.813000	0.99286	2.771000	0.95319	0.563000	0.77884	CCT		0.443	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033022.2	NM_018364		C	114308975	G	C	114308975	3	2	660	1	0	0	0	0	1	0	0	0	13702	1000	35	4	376	4	RSBN1	1	114308975	Missense_Mutation	SNP	G	TCGA-GL-7773-01A-11D-2136-08	2446013	114308975	134941646	10	35897											
FLG	2312	hgsc.bcm.edu	37	1	152276023	152276023	+	Missense_Mutation	SNP	C	C	G	rs367989347		TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr1:152276023C>G	ENST00000368799.1	-	3	11374	c.11339G>C	c.(11338-11340)aGg>aCg	p.R3780T	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3780	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)			GTGTCCAGACCTATCTACCGA	0.577									Ichthyosis																																							0													359	347	351					1																	152276023		2203	4300	6503	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.11339G>C	chr1.hg19:g.152276023C>G	ENSP00000357789:p.Arg3780Thr		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	hg19	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	3.380	-0.126622	0.06795	.	.	ENSG00000143631	ENST00000368799	T	0.01599	4.74	2.62	1.67	0.24075	.	.	.	.	.	T	0.00637	0.0021	L	0.52364	1.645	0.09310	N	1	B	0.18013	0.025	B	0.10450	0.005	T	0.44802	-0.9304	9	0.14656	T	0.56	-2.2716	7.2143	0.25951	0.0:0.6727:0.3273:0.0	.	3780	P20930	FILA_HUMAN	T	3780	ENSP00000357789:R3780T	ENSP00000357789:R3780T	R	-	2	0	FLG	150542647	0.000000	0.05858	0.007000	0.13788	0.002000	0.02628	-0.617000	0.05584	0.644000	0.30656	0.552000	0.68991	AGG		0.577	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		G	152276023	C	G	152276023	3	3	660	1	0	0	0	0	1	0	0	0	5924	681	24	4	850	4	FLG	1	152276023	Missense_Mutation	SNP	C	TCGA-GL-7773-01A-11D-2136-08	37967048	152276023	96974598	11	35898											
PBX1	5087	hgsc.bcm.edu	37	1	164781319	164781320	+	Frame_Shift_Ins	INS	-	-	GTATA			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr1:164781319_164781320insGTATA	ENST00000420696.2	+	6	1118_1119	c.930_931insGTATA	c.(931-933)gtcfs	p.-311fs	PBX1_ENST00000367897.1_Frame_Shift_Ins_p.-311fs|PBX1_ENST00000540246.1_Frame_Shift_Ins_p.-206fs|PBX1_ENST00000560641.1_Frame_Shift_Ins_p.-206fs|PBX1_ENST00000401534.1_Frame_Shift_Ins_p.-311fs|PBX1_ENST00000559240.1_Intron|PBX1_ENST00000540236.1_Frame_Shift_Ins_p.-311fs	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						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						CCAAAACAGCTGTCACTGCTAC	0.455			T	"TCF3, EWSR1"	"pre B-ALL, myoepithelioma"																																		Dom	yes		1	1q23	5087	pre-B-cell leukemia transcription factor 1		"L, M"	0																																										SO:0001589	frameshift_variant	5087			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	Exception_encountered	chr1.hg19:g.164781319_164781320insGTATA	ENSP00000405890:p.Val311fs		B4DSC1|F5H4U9|Q5T488	Frame_Shift_Ins	INS	ENST00000420696.2	hg19	CCDS1246.1																																																																																				0.455	PBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082864.4	NM_002585		GTATA	164781320	-	GTATA	164781319	7	5	660	1	0	1	1	0	0	0	0	0	11494	1567	55	0	952	0	PBX1	1	164781319	Frame_Shift_Ins	INS	-	TCGA-GL-7773-01A-11D-2136-08	12505296	164781319	84469302	12	35899											
BAT2L2	23215	hgsc.bcm.edu	37	1	171527271	171527271	+	Missense_Mutation	SNP	T	T	C			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr1:171527271T>C	ENST00000338920.4	+	19	6251	c.6014T>C	c.(6013-6015)aTc>aCc	p.I2005T	PRRC2C_ENST00000426496.2_Missense_Mutation_p.I2005T|PRRC2C_ENST00000367742.3_Missense_Mutation_p.I2007T|PRRC2C_ENST00000392078.3_Missense_Mutation_p.I2007T	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	2005					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										CTGAATGATATCTCTAAGAAA	0.423																																																0													63	62	62					1																	171527271		2203	4300	6503	SO:0001583	missense	23215			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.6014T>C	chr1.hg19:g.171527271T>C	ENSP00000343629:p.Ile2005Thr		Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	ENST00000338920.4	hg19	CCDS1296.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.38|16.38	3.105838|3.105838	0.56291|0.56291	.|.	.|.	ENSG00000117523|ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080|ENST00000495585	T;T;T;T|.	0.03035|.	4.11;4.07;4.12;4.12|.	5.32|5.32	5.32|5.32	0.75619|0.75619	.|.	0.154856|.	0.29253|.	U|.	0.012694|.	T|T	0.58163|0.58163	0.2103|0.2103	L|L	0.51422|0.51422	1.61|1.61	0.45427|0.45427	D|D	0.998403|0.998403	B|.	0.30361|.	0.277|.	B|.	0.35470|.	0.203|.	T|T	0.58589|0.58589	-0.7610|-0.7610	10|5	0.66056|.	D|.	0.02|.	.|.	15.3486|15.3486	0.74363|0.74363	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	2005|.	Q9Y520-4|.	.|.	T|P	2007;1959;2005;2007;2005;1762|553	ENSP00000375928:I2007T;ENSP00000410219:I2005T;ENSP00000356716:I2007T;ENSP00000343629:I2005T|.	ENSP00000343629:I2005T|.	I|S	+|+	2|1	0|0	PRRC2C|PRRC2C	169793895|169793895	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.878000|0.878000	0.50629|0.50629	6.663000|6.663000	0.74431|0.74431	2.013000|2.013000	0.59113|0.59113	0.451000|0.451000	0.29950|0.29950	ATC|TCT		0.423	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		C	171527271	T	C	171527271	3	2	660	1	0	0	0	0	1	0	0	0	1321	1435	50	3	6084	3	BAT2L2	1	171527271	Missense_Mutation	SNP	T	TCGA-GL-7773-01A-11D-2136-08	6745952	171527271	77723350	13	35900											
MRPS14	63931	hgsc.bcm.edu	37	1	174987712	174987712	+	Splice_Site	SNP	T	T	C			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr1:174987712T>C	ENST00000476371.1	-	2	62	c.46A>G	c.(46-48)Atg>Gtg	p.M16V		NM_022100.2	NP_071383.1			mitochondrial ribosomal protein S14											large_intestine(2)|lung(5)|pancreas(1)|prostate(2)	10						GAAGGAACCATCTGAAAGACA	0.448																																																0													98	85	89					1																	174987712		2203	4300	6503	SO:0001630	splice_region_variant	63931			AB051350	CCDS1316.1	1q25.1	2012-09-13			ENSG00000120333	ENSG00000120333		"Mitochondrial ribosomal proteins / small subunits"	14049	protein-coding gene	gene with protein product		611978					Standard	NR_037606		Approved	HSMRPS14	uc001gkk.3	O60783	OTTHUMG00000034878	ENST00000476371.1:c.46-1A>G	chr1.hg19:g.174987712T>C				Missense_Mutation	SNP	ENST00000476371.1	hg19	CCDS1316.1	.	.	.	.	.	.	.	.	.	.	T	0.064	-1.217425	0.01542	.	.	ENSG00000120333	ENST00000476371	.	.	.	5.67	-1.6	0.08426	.	0.671809	0.15704	N	0.248788	T	0.11707	0.0285	N	0.04043	-0.29	0.22745	N	0.998783	B	0.02656	0.0	B	0.01281	0.0	T	0.34601	-0.9822	9	0.02654	T	1	-0.3997	7.7061	0.28650	0.2345:0.5387:0.0:0.2267	.	16	O60783	RT14_HUMAN	V	16	.	ENSP00000420714:M16V	M	-	1	0	MRPS14	173254335	0.995000	0.38212	0.560000	0.28344	0.318000	0.28184	0.132000	0.15891	-0.280000	0.09154	-0.256000	0.11100	ATG		0.448	MRPS14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084416.2	NM_022100	Missense_Mutation	C	174987712	T	C	174987712	5	2	660	1	0	0	0	0	0	0	1	0	9826	1449	50	3	348	3	MRPS14	1	174987712	Splice_Site	SNP	T	TCGA-GL-7773-01A-11D-2136-08	3460441	174987712	74262909	14	35901											
TNR	7143	hgsc.bcm.edu	37	1	175355248	175355248	+	Missense_Mutation	SNP	G	G	C			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr1:175355248G>C	ENST00000367674.2	-	8	2405	c.1697C>G	c.(1696-1698)cCt>cGt	p.P566R	TNR_ENST00000263525.2_Missense_Mutation_p.P566R			Q92752	TENR_HUMAN	tenascin R	566	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TCGGGAGCCAGGCCGCAGGGC	0.612																																																0													63	60	61					1																	175355248		2203	4300	6503	SO:0001583	missense	7143			X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11953	protein-coding gene	gene with protein product	"restrictin", "janusin"	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.1697C>G	chr1.hg19:g.175355248G>C	ENSP00000356646:p.Pro566Arg		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	hg19	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710158	0.68730	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.68903	-0.36;-0.36	5.58	5.58	0.84498	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.84964	0.5589	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86989	0.2109	10	0.72032	D	0.01	.	19.1714	0.93580	0.0:0.0:1.0:0.0	.	566	Q92752	TENR_HUMAN	R	566	ENSP00000356646:P566R;ENSP00000263525:P566R	ENSP00000263525:P566R	P	-	2	0	TNR	173621871	1.000000	0.71417	0.953000	0.39169	0.256000	0.26092	8.911000	0.92721	2.613000	0.88420	0.650000	0.86243	CCT		0.612	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		C	175355248	G	C	175355248	3	2	660	1	0	0	0	0	1	0	0	0	16343	1000	35	4	2443	4	TNR	1	175355248	Missense_Mutation	SNP	G	TCGA-GL-7773-01A-11D-2136-08	367536	175355248	73895373	15	35902											
DHX9	1660	hgsc.bcm.edu	37	1	182856426	182856426	+	Missense_Mutation	SNP	G	G	C	rs571363823		TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr1:182856426G>C	ENST00000367549.3	+	28	3780	c.3670G>C	c.(3670-3672)Ggt>Cgt	p.G1224R	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	1224	NTD.				ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						AGTTTCCCGAGGTGGCTTTAG	0.592																																					Colon(69;210 1162 3697 13559 39565)											0													77	83	81					1																	182856426		1903	4120	6023	SO:0001583	missense	1660			L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"DEAH-boxes"	2750	protein-coding gene	gene with protein product	"NDH II", "RNA helicase A"	603115	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)", "DEAH (Asp-Glu-Ala-His) box polypeptide 9"	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.3670G>C	chr1.hg19:g.182856426G>C	ENSP00000356520:p.Gly1224Arg		B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	ENST00000367549.3	hg19	CCDS41444.1	.	.	.	.	.	.	.	.	.	.	G	11.36	1.615017	0.28712	.	.	ENSG00000135829	ENST00000367549	D	0.98329	-4.87	3.88	2.96	0.34315	.	0.241496	0.34725	N	0.003731	D	0.94748	0.8305	L	0.27053	0.805	0.58432	D	0.999996	P;P	0.47106	0.89;0.83	P;P	0.44946	0.465;0.465	D	0.91260	0.5036	10	0.13470	T	0.59	.	9.1231	0.36799	0.1132:0.0:0.8868:0.0	.	503;1224	B3KU66;Q08211	.;DHX9_HUMAN	R	1224	ENSP00000356520:G1224R	ENSP00000356520:G1224R	G	+	1	0	DHX9	181123049	1.000000	0.71417	0.182000	0.23118	0.556000	0.35491	6.067000	0.71193	0.619000	0.30197	0.561000	0.74099	GGT		0.592	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588		C	182856426	G	C	182856426	3	2	660	1	0	0	0	0	1	0	0	0	4518	1000	35	4	3776	4	DHX9	1	182856426	Missense_Mutation	SNP	G	TCGA-GL-7773-01A-11D-2136-08	7501178	182856426	66394195	16	35903											
RGS18	64407	hgsc.bcm.edu	37	1	192128419	192128419	+	Silent	SNP	C	C	T			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr1:192128419C>T	ENST00000367460.3	+	2	370	c.189C>T	c.(187-189)tcC>tcT	p.S63S	RGS18_ENST00000481707.1_3'UTR	NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	63					G-protein coupled receptor signaling pathway (GO:0007186)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ACACCCGCTCCAGTAGATCTG	0.363																																																0													46	50	48					1																	192128419		2203	4300	6503	SO:0001819	synonymous_variant	64407			AF268036	CCDS1374.1	1q31.2	2008-02-05	2007-08-14		ENSG00000150681	ENSG00000150681		"Regulators of G-protein signaling"	14261	protein-coding gene	gene with protein product		607192	"regulator of G-protein signalling 18"			11042171	Standard	NM_130782		Approved	RGS13	uc001gsg.3	Q9NS28	OTTHUMG00000035592	ENST00000367460.3:c.189C>T	chr1.hg19:g.192128419C>T			B2RD23	Silent	SNP	ENST00000367460.3	hg19	CCDS1374.1																																																																																				0.363	RGS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086382.1	NM_130782		T	192128419	C	T	192128419	2	4	660	1	0	0	0	0	0	0	0	1	13306	581	21	2		2	RGS18	1	192128419	Silent	SNP	C	TCGA-GL-7773-01A-11D-2136-08	9271993	192128419	57122202	17	35904											
SIPA1L2	57568	hgsc.bcm.edu	37	1	232649814	232649814	+	Silent	SNP	A	A	T			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr1:232649814A>T	ENST00000366630.1	-	2	1630	c.1272T>A	c.(1270-1272)atT>atA	p.I424I	SIPA1L2_ENST00000262861.4_Silent_p.I424I			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	424					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)				GAGAGAGCGCAATCCGCCTGT	0.517																																																0													138	137	138					1																	232649814		1984	4161	6145	SO:0001819	synonymous_variant	57568			AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.1272T>A	chr1.hg19:g.232649814A>T			Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Silent	SNP	ENST00000366630.1	hg19	CCDS41474.1																																																																																				0.517	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		T	232649814	A	T	232649814	2	4	660	1	0	0	0	0	0	0	0	1	14336	126	5	5		5	SIPA1L2	1	232649814	Silent	SNP	A	TCGA-GL-7773-01A-11D-2136-08	40521395	232649814	16600807	18	35905											
RASGRP3	25780	hgsc.bcm.edu	37	2	33768640	33768640	+	Missense_Mutation	SNP	G	G	C			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr2:33768640G>C	ENST00000403687.3	+	13	2080	c.1340G>C	c.(1339-1341)aGt>aCt	p.S447T	RASGRP3_ENST00000482731.1_3'UTR|RASGRP3_ENST00000402538.3_Missense_Mutation_p.S447T|RASGRP3_ENST00000407811.1_Missense_Mutation_p.S446T	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	447	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				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)					GACTTTGAAAGTATAGCTGCC	0.338																																																0													100	93	95					2																	33768640		1824	4085	5909	SO:0001583	missense	25780			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.1340G>C	chr2.hg19:g.33768640G>C	ENSP00000384192:p.Ser447Thr		D6W583|O94931|Q53SD7	Missense_Mutation	SNP	ENST00000403687.3	hg19	CCDS46256.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.250031	0.59212	.	.	ENSG00000152689	ENST00000402538;ENST00000403687;ENST00000407811	T;T;T	0.69175	-0.38;-0.38;-0.38	5.54	5.54	0.83059	EF-hand-like domain (1);	0.096408	0.64402	D	0.000002	T	0.66626	0.2808	N	0.14661	0.345	0.38135	D	0.938277	P;P	0.51240	0.943;0.885	P;P	0.59288	0.855;0.599	T	0.65961	-0.6041	10	0.23302	T	0.38	-3.5489	19.4767	0.94992	0.0:0.0:1.0:0.0	.	446;447	D6W583;Q8IV61	.;GRP3_HUMAN	T	447;447;446	ENSP00000385886:S447T;ENSP00000384192:S447T;ENSP00000383917:S446T	ENSP00000385886:S447T	S	+	2	0	RASGRP3	33622144	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.384000	0.52478	2.601000	0.87937	0.563000	0.77884	AGT		0.338	RASGRP3-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325462.2	NM_015376		C	33768640	G	C	33768640	3	2	660	1	0	0	0	0	1	0	0	0	13082	1029	36	4	1382	4	RASGRP3	2	33768640	Missense_Mutation	SNP	G	TCGA-GL-7773-01A-11D-2136-08		33768640	209430733	19	35906											
STRN	6801	hgsc.bcm.edu	37	2	37129786	37129786	+	Missense_Mutation	SNP	T	T	G			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr2:37129786T>G	ENST00000263918.4	-	5	608	c.600A>C	c.(598-600)aaA>aaC	p.K200N	STRN_ENST00000379213.2_Missense_Mutation_p.K188N	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	200					dendrite development (GO:0016358)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|tight junction assembly (GO:0070830)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|estrogen receptor binding (GO:0030331)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				AGTCCTGATTTTTGTCATCTT	0.393																																																0													204	187	193					2																	37129786		2203	4300	6503	SO:0001583	missense	6801			AJ223814	CCDS1784.1	2p22.2	2013-01-10	2001-11-28		ENSG00000115808	ENSG00000115808		"WD repeat domain containing"	11424	protein-coding gene	gene with protein product		614765	"striatin, calmodulin-binding protein"			9693043, 8769426	Standard	NM_003162		Approved	SG2NA	uc002rpn.3	O43815	OTTHUMG00000100959	ENST00000263918.4:c.600A>C	chr2.hg19:g.37129786T>G	ENSP00000263918:p.Lys200Asn		Q3KP65|Q53TQ8|Q9NP38	Missense_Mutation	SNP	ENST00000263918.4	hg19	CCDS1784.1	.	.	.	.	.	.	.	.	.	.	T	14.10	2.434771	0.43224	.	.	ENSG00000115808	ENST00000263918;ENST00000538092;ENST00000379213	T;T	0.65732	-0.17;-0.17	5.25	4.1	0.47936	.	0.260012	0.36101	N	0.002786	T	0.52821	0.1758	L	0.47190	1.495	0.36799	D	0.885272	B;B	0.14012	0.009;0.001	B;B	0.12837	0.008;0.004	T	0.52682	-0.8543	10	0.32370	T	0.25	-7.8697	10.7081	0.45966	0.0:0.0746:0.0:0.9254	.	188;200	O43815-2;O43815	.;STRN_HUMAN	N	200;175;188	ENSP00000263918:K200N;ENSP00000368513:K188N	ENSP00000263918:K200N	K	-	3	2	STRN	36983290	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.314000	0.43743	0.848000	0.35191	0.533000	0.62120	AAA		0.393	STRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218568.1			G	37129786	T	G	37129786	3	3	660	1	0	0	0	0	1	0	0	0	15334	1838	64	5	1798	5	STRN	2	37129786	Missense_Mutation	SNP	T	TCGA-GL-7773-01A-11D-2136-08	3361146	37129786	206069587	20	35907											
CNNM4	26504	hgsc.bcm.edu	37	2	97428005	97428005	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr2:97428005C>A	ENST00000377075.2	+	1	1367	c.1269C>A	c.(1267-1269)taC>taA	p.Y423*		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 4	423	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				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						ATATTCTCTACGTCAAAGACT	0.502																																																0													149	146	147					2																	97428005		2203	4300	6503	SO:0001587	stop_gained	26504			AB046812	CCDS2024.2	2q11.2	2014-08-08	2014-08-07		ENSG00000158158	ENSG00000158158			105	protein-coding gene	gene with protein product		607805	"cyclin M4"	ACDP4		21393841, 24194943	Standard	XM_005263914		Approved	KIAA1592	uc002swx.3	Q6P4Q7	OTTHUMG00000130532	ENST00000377075.2:c.1269C>A	chr2.hg19:g.97428005C>A	ENSP00000366275:p.Tyr423*		B7Z1U0|C7SQM3|C7SQM4|C7SQM5|Q53RE5|Q9H9G3|Q9HCI0|Q9NRN1	Nonsense_Mutation	SNP	ENST00000377075.2	hg19	CCDS2024.2	.	.	.	.	.	.	.	.	.	.	C	35	5.425731	0.96131	.	.	ENSG00000158158	ENST00000377075	.	.	.	5.05	-5.28	0.02755	.	0.140382	0.49305	D	0.000151	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	.	9.3317	0.38025	0.1152:0.5507:0.0:0.3341	.	.	.	.	X	423	.	ENSP00000366275:Y423X	Y	+	3	2	CNNM4	96791732	0.008000	0.16893	0.908000	0.35775	0.975000	0.68041	-0.996000	0.03709	-1.113000	0.02981	-0.302000	0.09304	TAC		0.502	CNNM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252954.1	NM_020184		A	97428005	C	A	97428005	4	1	660	1	0	0	0	0	0	1	0	0	3617	547	19	4	1271	4	CNNM4	2	97428005	Nonsense_Mutation	SNP	C	TCGA-GL-7773-01A-11D-2136-08	60298219	97428005	145771368	21	35908											
TTN	7273	hgsc.bcm.edu	37	2	179599140	179599140	+	Silent	SNP	A	A	G			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr2:179599140A>G	ENST00000591111.1	-	50	14684	c.14460T>C	c.(14458-14460)ttT>ttC	p.F4820F	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Silent_p.F3893F|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Silent_p.F5137F			Q8WZ42	TITIN_HUMAN	titin	12201	Ig-like 28.				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)			CTGCACTATTAAACGAAAAGA	0.373																																																0													170	159	162					2																	179599140		1893	4123	6016	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.14460T>C	chr2.hg19:g.179599140A>G			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	hg19																																																																																					0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		G	179599140	A	G	179599140	2	3	660	1	0	0	0	0	0	0	0	1	16740	359	13	3		3	TTN	2	179599140	Silent	SNP	A	TCGA-GL-7773-01A-11D-2136-08	82171135	179599140	63600233	22	35909											
ANKRD44	91526	hgsc.bcm.edu	37	2	197889959	197889959	+	Silent	SNP	T	T	C			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr2:197889959T>C	ENST00000328737.2	-	17	1684	c.1608A>G	c.(1606-1608)gaA>gaG	p.E536E	ANKRD44_ENST00000450567.1_Silent_p.E536E|ANKRD44_ENST00000282272.8_Silent_p.E553E|ANKRD44_ENST00000337207.5_Silent_p.E536E			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	561										NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CAGAATCTGATTCTTCAAATC	0.388																																																0													133	118	123					2																	197889959		2203	4300	6503	SO:0001819	synonymous_variant	91526			AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	25259	protein-coding gene	gene with protein product	"protein phosphatase 6 ankyrin repeat subunit B"						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.1608A>G	chr2.hg19:g.197889959T>C			Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Silent	SNP	ENST00000328737.2	hg19																																																																																					0.388	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	NM_153697		C	197889959	T	C	197889959	2	2	660	1	0	0	0	0	0	0	0	1	672	1490	52	3		3	ANKRD44	2	197889959	Silent	SNP	T	TCGA-GL-7773-01A-11D-2136-08	18290819	197889959	45309414	23	35910											
ALS2CR8	79800	hgsc.bcm.edu	37	2	203848266	203848266	+	Silent	SNP	A	A	G			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr2:203848266A>G	ENST00000402905.3	+	16	2418	c.2097A>G	c.(2095-2097)caA>caG	p.Q699Q	CARF_ENST00000545253.1_Silent_p.Q611Q|WDR12_ENST00000477723.1_Intron|CARF_ENST00000414439.1_Silent_p.Q597Q|CARF_ENST00000545262.1_Silent_p.Q623Q|CARF_ENST00000428585.1_Silent_p.Q623Q|CARF_ENST00000320443.8_Silent_p.Q699Q|CARF_ENST00000438828.2_Silent_p.Q699Q	NM_001104586.1|NM_001282910.1|NM_001282911.1|NM_001282912.1	NP_001098056.1|NP_001269839.1|NP_001269840.1|NP_001269841.1	Q8N187	CARTF_HUMAN	calcium responsive transcription factor	699					cellular response to calcium ion (GO:0071277)|cellular response to potassium ion (GO:0035865)|positive regulation of transcription from RNA polymerase II promoter in response to calcium ion (GO:0061400)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CTGTGAGCCAAGTTAAACAAG	0.328																																																0													81	78	79					2																	203848266		1801	4076	5877	SO:0001819	synonymous_variant	79800			AB053309	CCDS42801.1, CCDS63091.1	2q33.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000138380	ENSG00000138380			14435	protein-coding gene	gene with protein product	"calcium-response factor"	607586	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8"	ALS2CR8		11586298, 11832226	Standard	XM_005246858		Approved	FLJ21579, CaRF, NYD-SP24	uc002uzo.2	Q8N187	OTTHUMG00000154528	ENST00000402905.3:c.2097A>G	chr2.hg19:g.203848266A>G			B4E1W7|G3V1K7|Q8ND29|Q8WXC0|Q96J78|Q96Q38|Q96Q39|Q9H712	Silent	SNP	ENST00000402905.3	hg19	CCDS42801.1																																																																																				0.328	CARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335768.5	NM_001104586		G	203848266	A	G	203848266	2	3	660	1	0	0	0	0	0	0	0	1	555	69	3	3		3	ALS2CR8	2	203848266	Silent	SNP	A	TCGA-GL-7773-01A-11D-2136-08	5958307	203848266	39351107	24	35911											
CHL1	10752	hgsc.bcm.edu	37	3	407694	407695	+	Frame_Shift_Ins	INS	-	-	T			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr3:407694_407695insT	ENST00000256509.2	+	15	2289_2290	c.1647_1648insT	c.(1648-1650)ttafs	p.L550fs	CHL1-AS1_ENST00000417612.1_RNA|CHL1_ENST00000397491.2_Frame_Shift_Ins_p.L534fs|CHL1-AS1_ENST00000608098.1_RNA	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		ATATGCTTGAATTACATTGTGA	0.361																																																0																																										SO:0001589	frameshift_variant	10752			AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	1939	protein-coding gene	gene with protein product	"neural cell adhesion molecule", "close homolog of L1"	607416	"cell adhesion molecule with homology to L1CAM (close homologue of L1)", "cell adhesion molecule with homology to L1CAM (close homolog of L1)"			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.1649dupT	chr3.hg19:g.407696_407696dupT	ENSP00000256509:p.Leu550fs		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Frame_Shift_Ins	INS	ENST00000256509.2	hg19	CCDS2556.1																																																																																				0.361	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		T	407695	-	T	407694	7	5	660	1	0	1	1	0	0	0	0	0	3351	98	4	0	1697	0	CHL1	3	407694	Frame_Shift_Ins	INS	-	TCGA-GL-7773-01A-11D-2136-08		407694	197614736	25	35912											
CAMP	820	hgsc.bcm.edu	37	3	48266893	48266893	+	Silent	SNP	T	T	C			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr3:48266893T>C	ENST00000576243.1	+	4	632	c.492T>C	c.(490-492)ctT>ctC	p.L164L	CAMP_ENST00000296435.2_Silent_p.L167L			P49913	CAMP_HUMAN	cathelicidin antimicrobial peptide	164					antibacterial humoral response (GO:0019731)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptidoglycan (GO:0071224)|cellular response to tumor necrosis factor (GO:0071356)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|killing by host of symbiont cells (GO:0051873)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of growth of symbiont on or near host surface (GO:0044140)|phagosome maturation (GO:0090382)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein phosphorylation (GO:0001934)	cell projection (GO:0042995)|cell wall (GO:0005618)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|specific granule (GO:0042581)				endometrium(2)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000614)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		TGCGGAATCTTGTACCCAGGA	0.453																																																0													103	113	109					3																	48266893		2203	4300	6503	SO:0001819	synonymous_variant	820			BC055089	CCDS2762.1, CCDS2762.2	3p21.3	2014-01-30			ENSG00000164047	ENSG00000164047		"Endogenous ligands"	1472	protein-coding gene	gene with protein product		600474				7624374	Standard	NM_004345		Approved	CAP18, FALL39, FALL-39, LL37	uc003csj.3	P49913	OTTHUMG00000133526	ENST00000576243.1:c.492T>C	chr3.hg19:g.48266893T>C			Q71SN9	Silent	SNP	ENST00000576243.1	hg19																																																																																					0.453	CAMP-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_004345		C	48266893	T	C	48266893	2	2	660	1	0	0	0	0	0	0	0	1	2612	1799	63	3		3	CAMP	3	48266893	Silent	SNP	T	TCGA-GL-7773-01A-11D-2136-08	47859199	48266893	149755537	26	35913											
IQCF2	389123	hgsc.bcm.edu	37	3	51897303	51897303	+	Missense_Mutation	SNP	T	T	C			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr3:51897303T>C	ENST00000333127.3	+	3	441	c.412T>C	c.(412-414)Tgc>Cgc	p.C138R	IQCF2_ENST00000429548.1_3'UTR	NM_203424.1	NP_982248.1	Q8IXL9	IQCF2_HUMAN	IQ motif containing F2	138										endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ATGCCACAACTGCCAGACCTG	0.577																																																0													120	113	116					3																	51897303		2203	4300	6503	SO:0001583	missense	389123			AK128883	CCDS2835.1	3p21.31	2008-02-05			ENSG00000184345	ENSG00000184345			31815	protein-coding gene	gene with protein product							Standard	NM_203424		Approved		uc003dbt.1	Q8IXL9	OTTHUMG00000156914	ENST00000333127.3:c.412T>C	chr3.hg19:g.51897303T>C	ENSP00000329904:p.Cys138Arg			Missense_Mutation	SNP	ENST00000333127.3	hg19	CCDS2835.1	.	.	.	.	.	.	.	.	.	.	T	19.99	3.928595	0.73327	.	.	ENSG00000184345	ENST00000333127	T	0.34859	1.34	5.22	5.22	0.72569	.	0.202993	0.36101	N	0.002800	T	0.52125	0.1715	L	0.58810	1.83	0.48696	D	0.999697	D	0.71674	0.998	D	0.64144	0.922	T	0.54761	-0.8245	10	0.87932	D	0	-16.5932	11.6771	0.51436	0.0:0.0:0.0:1.0	.	138	Q8IXL9	IQCF2_HUMAN	R	138	ENSP00000329904:C138R	ENSP00000329904:C138R	C	+	1	0	IQCF2	51872343	0.999000	0.42202	1.000000	0.80357	0.986000	0.74619	3.496000	0.53288	2.311000	0.77944	0.528000	0.53228	TGC		0.577	IQCF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346594.1	NM_203424		C	51897303	T	C	51897303	3	2	660	1	0	0	0	0	1	0	0	0	7810	1580	55	3	422	3	IQCF2	3	51897303	Missense_Mutation	SNP	T	TCGA-GL-7773-01A-11D-2136-08	3630410	51897303	146125127	27	35914											
LRTM1	57408	hgsc.bcm.edu	37	3	54952818	54952823	+	In_Frame_Del	DEL	CAGGAA	CAGGAA	-			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	CAGGAA	CAGGAA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr3:54952818_54952823delCAGGAA	ENST00000273286.5	-	3	863_868	c.701_706delTTCCTG	c.(700-708)cttcctgct>cct	p.234_236LPA>P	CACNA2D3_ENST00000474759.1_Intron|CACNA2D3_ENST00000288197.5_Intron|CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000490478.1_Intron|LRTM1_ENST00000493075.1_In_Frame_Del_p.158_160LPA>P	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	234	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)		GGATCAGGAGCAGGAAGAGGGCAGGG	0.597																																																0																																										SO:0001651	inframe_deletion	57408			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.701_706delTTCCTG	chr3.hg19:g.54952818_54952823delCAGGAA	ENSP00000273286:p.Leu234_Ala236delinsPro		Q8IUU2	In_Frame_Del	DEL	ENST00000273286.5	hg19	CCDS2876.1																																																																																				0.597	LRTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351399.1	NM_020678		-	54952823	CAGGAA	-	54952818	7	5	660	1	0	1	0	1	0	0	0	0	9046	710	25	0	335	0	LRTM1	3	54952818	In_Frame_Del	DEL	CAGGAA	TCGA-GL-7773-01A-11D-2136-08	3055515	54952818	143069612	28	35915											
ARHGEF3	50650	hgsc.bcm.edu	37	3	56779418	56779418	+	Missense_Mutation	SNP	T	T	G			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr3:56779418T>G	ENST00000296315.3	-	7	853	c.685A>C	c.(685-687)Aag>Cag	p.K229Q	ARHGEF3_ENST00000495373.1_Missense_Mutation_p.K229Q|ARHGEF3_ENST00000413728.2_Missense_Mutation_p.K235Q|ARHGEF3_ENST00000497267.1_Missense_Mutation_p.K200Q|ARHGEF3_ENST00000338458.4_Missense_Mutation_p.K261Q|ARHGEF3_ENST00000496106.1_Missense_Mutation_p.K235Q	NM_019555.2	NP_062455.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	229	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				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)		TGATCTTGCTTTTTGTGGTCC	0.478																																																0													161	169	166					3																	56779418		2203	4300	6503	SO:0001583	missense	50650			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.685A>C	chr3.hg19:g.56779418T>G	ENSP00000296315:p.Lys229Gln		A8K5U7|Q4FZB6|Q4QQI5|Q4QQQ0|Q59F00|Q6NUN3|Q7Z4U2|Q7Z5T2|Q9H7T4	Missense_Mutation	SNP	ENST00000296315.3	hg19	CCDS2878.1	.	.	.	.	.	.	.	.	.	.	T	28.7	4.943519	0.92593	.	.	ENSG00000163947	ENST00000296315;ENST00000338458;ENST00000413728;ENST00000496106;ENST00000497267;ENST00000495373	T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46	5.85	5.85	0.93711	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.61813	0.2377	M	0.89601	3.045	0.80722	D	1	D;D;D;D;D;D;D	0.69078	0.966;0.968;0.992;0.984;0.98;0.997;0.98	P;P;P;P;P;D;P	0.63192	0.712;0.571;0.591;0.713;0.665;0.912;0.665	T	0.70669	-0.4808	10	0.87932	D	0	-14.323	16.5479	0.84454	0.0:0.0:0.0:1.0	.	235;200;27;229;261;229;235	E9PG37;E7EU49;Q9NR81-4;C9J586;Q9NR81-2;Q9NR81;Q9NR81-3	.;.;.;.;.;ARHG3_HUMAN;.	Q	229;261;235;235;200;229	ENSP00000296315:K229Q;ENSP00000341071:K261Q;ENSP00000410922:K235Q;ENSP00000420420:K235Q;ENSP00000418826:K200Q;ENSP00000417986:K229Q	ENSP00000296315:K229Q	K	-	1	0	ARHGEF3	56754458	1.000000	0.71417	0.996000	0.52242	0.983000	0.72400	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	AAG		0.478	ARHGEF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352431.2	NM_019555		G	56779418	T	G	56779418	3	3	660	1	0	0	0	0	1	0	0	0	904	1850	64	5	911	5	ARHGEF3	3	56779418	Missense_Mutation	SNP	T	TCGA-GL-7773-01A-11D-2136-08	1826600	56779418	141243012	29	35916											
C3orf14	57415	hgsc.bcm.edu	37	3	62317065	62317065	+	Silent	SNP	T	T	A			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr3:62317065T>A	ENST00000494481.1	+	5	557	c.243T>A	c.(241-243)gtT>gtA	p.V81V	C3orf14_ENST00000542214.1_Silent_p.V81V|C3orf14_ENST00000232519.5_Silent_p.V81V|C3orf14_ENST00000462069.1_Silent_p.V81V|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000490916.1_RNA			Q9HBI5	CC014_HUMAN	chromosome 3 open reading frame 14	81										central_nervous_system(1)|large_intestine(1)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(55;0.00023)|KIRC - Kidney renal clear cell carcinoma(15;0.00877)|Kidney(15;0.0101)		CTGAGGTGGTTTCTCTTGAGG	0.393																																																0													102	101	102					3																	62317065		2203	4300	6503	SO:0001819	synonymous_variant	57415			AF236158	CCDS2896.1	3p14.2	2011-11-29			ENSG00000114405	ENSG00000114405			25024	protein-coding gene	gene with protein product						12477932	Standard	XM_005265338		Approved	HT021	uc003dlg.3	Q9HBI5	OTTHUMG00000158704	ENST00000494481.1:c.243T>A	chr3.hg19:g.62317065T>A			B2R9U0	Silent	SNP	ENST00000494481.1	hg19	CCDS2896.1																																																																																				0.393	C3orf14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351807.1	NM_020685		A	62317065	T	A	62317065	2	1	660	1	0	0	0	0	0	0	0	1	2210	1828	64	5		5	C3orf14	3	62317065	Silent	SNP	T	TCGA-GL-7773-01A-11D-2136-08	5537647	62317065	135705365	30	35917											
CPOX	1371	hgsc.bcm.edu	37	3	98309567	98309567	+	Silent	SNP	A	A	T			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr3:98309567A>T	ENST00000264193.2	-	3	938	c.720T>A	c.(718-720)gcT>gcA	p.A240A		NM_000097.5	NP_000088.3	P36551	HEM6_HUMAN	coproporphyrinogen oxidase	240					heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to arsenic-containing substance (GO:0046685)|response to insecticide (GO:0017085)|response to iron ion (GO:0010039)|response to lead ion (GO:0010288)|response to methylmercury (GO:0051597)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	coproporphyrinogen oxidase activity (GO:0004109)|protein homodimerization activity (GO:0042803)|structural constituent of eye lens (GO:0005212)			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						TCACGCCCATAGCACAAAATG	0.388																																					Esophageal Squamous(75;7 1223 22300 43648 48951)											0													82	78	79					3																	98309567		2203	4300	6503	SO:0001819	synonymous_variant	1371			BC017210	CCDS2932.1	3q12	2012-10-02		2004-01-30		ENSG00000080819	1.3.3.3		2321	protein-coding gene	gene with protein product	"coproporphyria"	612732	"coproporphyrinogen oxidase (coproporphyria, harderoporphyria)"	CPO		7757079, 8407975	Standard	NM_000097		Approved	CPX, HCP	uc003dsx.3	P36551		ENST00000264193.2:c.720T>A	chr3.hg19:g.98309567A>T			A8K275|B4DSD5|Q14060|Q53F08|Q8IZ45|Q96AF3	Silent	SNP	ENST00000264193.2	hg19	CCDS2932.1																																																																																				0.388	CPOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358900.1	NM_000097		T	98309567	A	T	98309567	2	4	660	1	0	0	0	0	0	0	0	1	3823	407	15	5		5	CPOX	3	98309567	Silent	SNP	A	TCGA-GL-7773-01A-11D-2136-08	35992502	98309567	99712863	31	35918											
ZBTB20	26137	hgsc.bcm.edu	37	3	114057877	114057878	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	AT	AT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr3:114057877_114057878delAT	ENST00000474710.1	-	5	2378_2379	c.2200_2201delAT	c.(2200-2202)atgfs	p.M734fs	ZBTB20_ENST00000393785.2_Frame_Shift_Del_p.M661fs|ZBTB20_ENST00000357258.3_Frame_Shift_Del_p.M661fs|ZBTB20_ENST00000464560.1_Frame_Shift_Del_p.M661fs|ZBTB20_ENST00000462705.1_Frame_Shift_Del_p.M661fs|ZBTB20_ENST00000481632.1_Frame_Shift_Del_p.M661fs|ZBTB20_ENST00000471418.1_Frame_Shift_Del_p.M661fs	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	734						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)		ATGCATCCTCATGTGGTCGTTG	0.48																																					NSCLC(69;748 1344 9802 11203 30933)											0																																										SO:0001589	frameshift_variant	26137			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.2200_2201delAT	chr3.hg19:g.114057877_114057878delAT	ENSP00000419153:p.Met734fs		Q63HP6|Q8N6R5|Q9Y410	Frame_Shift_Del	DEL	ENST00000474710.1	hg19	CCDS54626.1																																																																																				0.48	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		-	114057878	AT	-	114057877	7	5	660	1	0	1	0	1	0	0	0	0	17534	217	8	0	28	0	ZBTB20	3	114057877	Frame_Shift_Del	DEL	AT	TCGA-GL-7773-01A-11D-2136-08	15748310	114057877	83964553	32	35919											
MCM2	4171	hgsc.bcm.edu	37	3	127340566	127340566	+	Missense_Mutation	SNP	A	A	G			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr3:127340566A>G	ENST00000265056.7	+	16	2909	c.2665A>G	c.(2665-2667)Aac>Gac	p.N889D	MCM2_ENST00000468414.1_3'UTR	NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	889					cell cycle (GO:0007049)|cellular response to interleukin-4 (GO:0071353)|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)|nucleosome assembly (GO:0006334)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|MCM complex (GO:0042555)|microtubule cytoskeleton (GO:0015630)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA replication origin binding (GO:0003688)|metal ion binding (GO:0046872)			ovary(3)|skin(2)|stomach(1)	6						CTTCAGGATGAACAAGTTCAG	0.498																																																0													100	95	96					3																	127340566		2203	4300	6503	SO:0001583	missense	4171			X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111			6944	protein-coding gene	gene with protein product	"mitotin"	116945	"minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin)", "MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)"	CCNL1, CDCL1		1710453, 8258304	Standard	NM_004526		Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.2665A>G	chr3.hg19:g.127340566A>G	ENSP00000265056:p.Asn889Asp		Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Missense_Mutation	SNP	ENST00000265056.7	hg19	CCDS3043.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.42|19.42	3.824506|3.824506	0.71143|0.71143	.|.	.|.	ENSG00000073111|ENSG00000073111	ENST00000265056;ENST00000539922;ENST00000543142|ENST00000491422	T|.	0.02421|.	4.3|.	5.38|5.38	4.22|4.22	0.49857|0.49857	.|.	0.132166|.	0.64402|.	D|.	0.000002|.	T|.	0.74261|.	0.3693|.	M|M	0.81239|0.81239	2.535|2.535	0.80722|0.80722	D|D	1|1	P;P;B|.	0.38788|.	0.51;0.647;0.419|.	B;P;P|.	0.50896|.	0.282;0.653;0.455|.	T|.	0.74717|.	-0.3571|.	10|.	0.51188|.	T|.	0.08|.	-40.2853|-40.2853	12.3561|12.3561	0.55176|0.55176	0.8518:0.1482:0.0:0.0|0.8518:0.1482:0.0:0.0	.|.	939;759;889|.	F5H1E9;B4DSV5;P49736|.	.;.;MCM2_HUMAN|.	D|W	889;793;939|820	ENSP00000265056:N889D|.	ENSP00000265056:N889D|.	N|X	+|+	1|3	0|0	MCM2|MCM2	128823256|128823256	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.487000|0.487000	0.33371|0.33371	5.837000|5.837000	0.69381|0.69381	0.882000|0.882000	0.36016|0.36016	0.260000|0.260000	0.18958|0.18958	AAC|TGA		0.498	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1			G	127340566	A	G	127340566	3	3	660	1	0	0	0	0	1	0	0	0	9388	246	9	3	2727	3	MCM2	3	127340566	Missense_Mutation	SNP	A	TCGA-GL-7773-01A-11D-2136-08	13282689	127340566	70681864	33	35920											
PLSCR2	57047	hgsc.bcm.edu	37	3	146167110	146167110	+	Silent	SNP	C	C	T			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr3:146167110C>T	ENST00000497985.1	-	8	1186	c.747G>A	c.(745-747)aaG>aaA	p.K249K	PLSCR2_ENST00000336685.2_Silent_p.K176K	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2	249					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						CAGACCAGTGCTTAGAAATCC	0.328																																																0													128	130	130					3																	146167110		2203	4300	6503	SO:0001819	synonymous_variant	57047				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.747G>A	chr3.hg19:g.146167110C>T			B4DXC3|J3KR76|Q0VAQ1|Q6NSW9|Q7Z4L7	Silent	SNP	ENST00000497985.1	hg19	CCDS56284.1																																																																																				0.328	PLSCR2-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000355264.1	NM_020359		T	146167110	C	T	146167110	2	4	660	1	0	0	0	0	0	0	0	1	12112	796	28	2		2	PLSCR2	3	146167110	Silent	SNP	C	TCGA-GL-7773-01A-11D-2136-08	18826544	146167110	51855320	34	35921											
MCCC1	56922	hgsc.bcm.edu	37	3	182789038	182789038	+	Missense_Mutation	SNP	T	T	C			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr3:182789038T>C	ENST00000265594.4	-	6	745	c.599A>G	c.(598-600)tAt>tGt	p.Y200C	MCCC1_ENST00000539926.1_Missense_Mutation_p.Y65C|MCCC1_ENST00000492597.1_Missense_Mutation_p.Y91C	NM_020166.3	NP_064551.3	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	200	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|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)	CATGACAGGATAGCCAATTCT	0.463																																																0													100	101	101					3																	182789038		2203	4300	6503	SO:0001583	missense	56922			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.599A>G	chr3.hg19:g.182789038T>C	ENSP00000265594:p.Tyr200Cys		Q59ES4|Q9H959|Q9NS97	Missense_Mutation	SNP	ENST00000265594.4	hg19	CCDS3241.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.081996	0.76528	.	.	ENSG00000078070	ENST00000265594;ENST00000492597;ENST00000392616;ENST00000539926;ENST00000476176;ENST00000448585;ENST00000541636	D;D;D;D	0.98400	-4.91;-4.91;-4.91;-4.91	5.9	5.9	0.94986	ATP-grasp fold (1);ATP-grasp fold, subdomain 1 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);Biotin carboxylation domain (1);	0.053830	0.85682	D	0.000000	D	0.99242	0.9736	H	0.94698	3.57	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.73708	0.975;0.975;0.981	D	0.99032	1.0821	10	0.87932	D	0	.	16.3322	0.83039	0.0:0.0:0.0:1.0	.	153;91;200	E9PG35;E9PHF7;Q96RQ3	.;.;MCCA_HUMAN	C	200;91;50;65;153;153;91	ENSP00000265594:Y200C;ENSP00000419898:Y91C;ENSP00000441253:Y65C;ENSP00000420433:Y153C	ENSP00000265594:Y200C	Y	-	2	0	MCCC1	184271732	1.000000	0.71417	0.605000	0.28930	0.929000	0.56500	5.693000	0.68264	2.251000	0.74343	0.528000	0.53228	TAT		0.463	MCCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350775.1	NM_020166		C	182789038	T	C	182789038	3	2	660	1	0	0	0	0	1	0	0	0	9376	1406	49	3	1634	3	MCCC1	3	182789038	Missense_Mutation	SNP	T	TCGA-GL-7773-01A-11D-2136-08	36621928	182789038	15233392	35	35922											
CDKL2	8999	hgsc.bcm.edu	37	4	76529105	76529105	+	Nonsense_Mutation	SNP	T	T	A			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr4:76529105T>A	ENST00000429927.2	-	6	1394	c.691A>T	c.(691-693)Aaa>Taa	p.K231*	CDKL2_ENST00000307465.4_Nonsense_Mutation_p.K231*	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	231	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				sex differentiation (GO:0007548)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			ACAGGATTTTTATTAAAAAGC	0.388																																																0													86	89	88					4																	76529105		2203	4300	6503	SO:0001587	stop_gained	8999			U35146	CCDS3570.1	4q21.21	2011-11-04			ENSG00000138769	ENSG00000138769		"Cyclin-dependent kinases"	1782	protein-coding gene	gene with protein product		603442				9000130	Standard	NM_003948		Approved	P56, KKIAMRE	uc003hiq.3	Q92772	OTTHUMG00000130103	ENST00000429927.2:c.691A>T	chr4.hg19:g.76529105T>A	ENSP00000412365:p.Lys231*		B2R695	Nonsense_Mutation	SNP	ENST00000429927.2	hg19	CCDS3570.1	.	.	.	.	.	.	.	.	.	.	T	42	9.693897	0.99240	.	.	ENSG00000138769	ENST00000429927;ENST00000307465	.	.	.	5.14	3.9	0.45041	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-24.029	11.3921	0.49820	0.0:0.0:0.1508:0.8492	.	.	.	.	X	231	.	ENSP00000306340:K231X	K	-	1	0	CDKL2	76748129	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	4.829000	0.62737	2.164000	0.68074	0.460000	0.39030	AAA		0.388	CDKL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252409.2	NM_003948		A	76529105	T	A	76529105	4	1	660	1	0	0	0	0	0	1	0	0	3156	1763	61	5	814	5	CDKL2	4	76529105	Nonsense_Mutation	SNP	T	TCGA-GL-7773-01A-11D-2136-08		76529105	114625171	36	35923											
KIAA1109	84162	hgsc.bcm.edu	37	4	123202841	123202841	+	Missense_Mutation	SNP	G	G	C	rs115036597		TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr4:123202841G>C	ENST00000264501.4	+	52	9322	c.8949G>C	c.(8947-8949)atG>atC	p.M2983I	KIAA1109_ENST00000388738.3_Missense_Mutation_p.M2983I|KIAA1109_ENST00000455637.1_Missense_Mutation_p.M2983I			Q2LD37	K1109_HUMAN	KIAA1109	2983					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						TCAGTGCCATGTTAGATGGTA	0.383																																																0													121	113	116					4																	123202841		1831	4099	5930	SO:0001583	missense	84162			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.8949G>C	chr4.hg19:g.123202841G>C	ENSP00000264501:p.Met2983Ile		Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	hg19	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.047|5.047	0.194277|0.194277	0.09599|0.09599	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637|ENST00000419325	T;T;T|.	0.20069|.	2.69;2.69;2.1|.	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.33990|0.33990	0.0882|0.0882	N|N	0.04090|0.04090	-0.28|-0.28	0.43073|0.43073	D|D	0.994713|0.994713	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.08055|.	0.003;0.001|.	T|T	0.28138|0.28138	-1.0053|-1.0053	10|5	0.05436|.	T|.	0.98|.	.|.	12.6377|12.6377	0.56692|0.56692	0.0759:0.0:0.9241:0.0|0.0759:0.0:0.9241:0.0	.|.	2983;2983|.	Q2LD37-6;Q2LD37|.	.;K1109_HUMAN|.	I|L	2983|941	ENSP00000264501:M2983I;ENSP00000373390:M2983I;ENSP00000389925:M2983I|.	ENSP00000264501:M2983I|.	M|V	+|+	3|1	0|0	KIAA1109|KIAA1109	123422291|123422291	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	6.528000|6.528000	0.73807|0.73807	2.572000|2.572000	0.86782|0.86782	0.591000|0.591000	0.81541|0.81541	ATG|GTT		0.383	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		C	123202841	G	C	123202841	3	2	660	1	0	0	0	0	1	0	0	0	8210	1377	48	4	9147	4	KIAA1109	4	123202841	Missense_Mutation	SNP	G	TCGA-GL-7773-01A-11D-2136-08	46673736	123202841	67951435	37	35924											
MTRR	4552	hgsc.bcm.edu	37	5	7878202	7878202	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr5:7878202G>T	ENST00000264668.2	+	5	658	c.628G>T	c.(628-630)Gag>Tag	p.E210*	MTRR_ENST00000341013.6_3'UTR|MTRR_ENST00000440940.2_Nonsense_Mutation_p.E183*	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	210	Hinge.				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)	TGTGAAGTCAGAGCTGCTACA	0.478																																																0													82	77	78					5																	7878202		2203	4300	6503	SO:0001587	stop_gained	4552			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.628G>T	chr5.hg19:g.7878202G>T	ENSP00000264668:p.Glu210*		O60471|Q32MA9|Q7Z4M8	Nonsense_Mutation	SNP	ENST00000264668.2	hg19	CCDS3874.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.92|11.92	1.783157|1.783157	0.31593|0.31593	.|.	.|.	ENSG00000124275|ENSG00000124275	ENST00000264668;ENST00000440940|ENST00000514220	.|.	.|.	.|.	5.91|5.91	3.14|3.14	0.36123|0.36123	.|.	1.215660|.	0.05458|.	N|.	0.550635|.	.|T	.|0.49898	.|0.1584	.|.	.|.	.|.	0.18873|0.18873	N|N	0.999986|0.999986	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.38394	.|-0.9663	.|4	0.18276|.	T|.	0.48|.	-19.4083|-19.4083	15.3298|15.3298	0.74200|0.74200	0.0:0.4006:0.5994:0.0|0.0:0.4006:0.5994:0.0	.|.	.|.	.|.	.|.	X|I	210;183|111	.|.	ENSP00000264668:E210X|.	E|R	+|+	1|2	0|0	MTRR|MTRR	7931202|7931202	0.022000|0.022000	0.18835|0.18835	0.000000|0.000000	0.03702|0.03702	0.014000|0.014000	0.08584|0.08584	1.921000|1.921000	0.40035|0.40035	0.387000|0.387000	0.25024|0.25024	-0.127000|-0.127000	0.14921|0.14921	GAG|AGA		0.478	MTRR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206931.1			T	7878202	G	T	7878202	4	4	660	1	0	0	0	0	0	1	0	0	9963	943	33	4	646	4	MTRR	5	7878202	Nonsense_Mutation	SNP	G	TCGA-GL-7773-01A-11D-2136-08		7878202	173037058	38	35925											
RNASEN	29102	hgsc.bcm.edu	37	5	31515239	31515239	+	Missense_Mutation	SNP	C	C	G			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr5:31515239C>G	ENST00000511367.2	-	7	1390	c.1146G>C	c.(1144-1146)aaG>aaC	p.K382N	DROSHA_ENST00000442743.1_Missense_Mutation_p.K345N|DROSHA_ENST00000513349.1_Missense_Mutation_p.K345N|DROSHA_ENST00000344624.3_Missense_Mutation_p.K382N	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	382					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						AGGTATAGTTCTTGTCTTTGC	0.478																																																0													160	152	154					5																	31515239		1868	4097	5965	SO:0001583	missense	29102			AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"drosha, ribonuclease type III", "drosha, double-stranded RNA-specific endoribonuclease"	608828	"ribonuclease type III, nuclear"	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.1146G>C	chr5.hg19:g.31515239C>G	ENSP00000425979:p.Lys382Asn		E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP	ENST00000511367.2	hg19	CCDS47195.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.68|16.68	3.189775|3.189775	0.57909|0.57909	.|.	.|.	ENSG00000113360|ENSG00000113360	ENST00000512076|ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075;ENST00000382188;ENST00000512302	.|T;T;T;T;T	.|0.59083	.|0.29;0.29;0.29;0.29;0.29	5.64|5.64	4.78|4.78	0.61160|0.61160	.|.	.|0.048766	.|0.85682	.|D	.|0.000000	T|T	0.54303|0.54303	0.1850|0.1850	N|N	0.19112|0.19112	0.55|0.55	0.44098|0.44098	D|D	0.996864|0.996864	.|D;B;B	.|0.54964	.|0.969;0.421;0.421	.|P;B;B	.|0.55824	.|0.785;0.154;0.154	T|T	0.55560|0.55560	-0.8122|-0.8122	5|10	.|0.44086	.|T	.|0.13	-27.3211|-27.3211	11.1936|11.1936	0.48700|0.48700	0.0:0.8412:0.0:0.1588|0.0:0.8412:0.0:0.1588	.|.	.|314;345;382	.|Q9NRR4-2;E7EMP9;Q9NRR4	.|.;.;RNC_HUMAN	Q|N	144|382;382;345;345;307;338;149	.|ENSP00000425979:K382N;ENSP00000339845:K382N;ENSP00000409335:K345N;ENSP00000424161:K345N;ENSP00000428782:K149N	.|ENSP00000265075:K307N	E|K	-|-	1|3	0|2	DROSHA|DROSHA	31550996|31550996	0.980000|0.980000	0.34600|0.34600	0.968000|0.968000	0.41197|0.41197	0.798000|0.798000	0.45092|0.45092	0.552000|0.552000	0.23376|0.23376	1.395000|1.395000	0.46643|0.46643	0.561000|0.561000	0.74099|0.74099	GAA|AAG		0.478	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	NM_013235		G	31515239	C	G	31515239	3	3	660	1	0	0	0	0	1	0	0	0	13423	912	32	4	3094	4	RNASEN	5	31515239	Missense_Mutation	SNP	C	TCGA-GL-7773-01A-11D-2136-08	23637037	31515239	149400021	39	35926											
CHD1	1105	hgsc.bcm.edu	37	5	98192299	98192299	+	Missense_Mutation	SNP	G	G	A			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr5:98192299G>A	ENST00000284049.3	-	35	5067	c.4918C>T	c.(4918-4920)Cat>Tat	p.H1640Y		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1640	3 X 5 AA repeats of H-S-D-H-R.				chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TGGTCTGAATGTAACCGATGA	0.428																																																0													136	128	131					5																	98192299		2203	4299	6502	SO:0001583	missense	1105			AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.4918C>T	chr5.hg19:g.98192299G>A	ENSP00000284049:p.His1640Tyr		Q17RZ3	Missense_Mutation	SNP	ENST00000284049.3	hg19	CCDS34204.1	.	.	.	.	.	.	.	.	.	.	G	4.283	0.051605	0.08291	.	.	ENSG00000153922	ENST00000422663;ENST00000284049	D	0.89875	-2.58	5.21	5.21	0.72293	.	0.000000	0.34386	U	0.004006	D	0.86079	0.5847	M	0.65498	2.005	0.38271	D	0.942164	B	0.27882	0.192	B	0.22880	0.042	T	0.82969	-0.0193	10	0.02654	T	1	.	18.7493	0.91807	0.0:0.0:1.0:0.0	.	1640	O14646	CHD1_HUMAN	Y	230;1640	ENSP00000284049:H1640Y	ENSP00000284049:H1640Y	H	-	1	0	CHD1	98220199	1.000000	0.71417	0.970000	0.41538	0.993000	0.82548	2.914000	0.48797	2.407000	0.81776	0.655000	0.94253	CAT		0.428	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270		A	98192299	G	A	98192299	3	1	660	1	0	0	0	0	1	0	0	0	3325	1377	48	2	218	2	CHD1	5	98192299	Missense_Mutation	SNP	G	TCGA-GL-7773-01A-11D-2136-08	66677060	98192299	82722961	40	35927											
PCDHGB2	56103	hgsc.bcm.edu	37	5	140741729	140741729	+	Missense_Mutation	SNP	G	G	A			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr5:140741729G>A	ENST00000522605.1	+	1	2027	c.2027G>A	c.(2026-2028)aGc>aAc	p.S676N	PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_5'Flank|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	676					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGACCTCAGCGACCGCCGG	0.602																																																0													54	59	57					5																	140741729		2031	4196	6227	SO:0001583	missense	56103			AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"Cadherins / Protocadherins : Clustered"	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.2027G>A	chr5.hg19:g.140741729G>A	ENSP00000429018:p.Ser676Asn		Q3MIJ3|Q9UN65	Missense_Mutation	SNP	ENST00000522605.1	hg19	CCDS54924.1	.	.	.	.	.	.	.	.	.	.	.	9.065	0.995573	0.19043	.	.	ENSG00000253910	ENST00000522605	T	0.51071	0.72	4.95	3.13	0.36017	.	.	.	.	.	T	0.39937	0.1097	L	0.53617	1.68	0.09310	N	1	B;B	0.24618	0.005;0.107	B;B	0.22601	0.021;0.04	T	0.22977	-1.0201	9	0.21014	T	0.42	.	9.109	0.36716	0.242:0.0:0.758:0.0	.	676;676	Q9Y5G2-2;Q9Y5G2	.;PCDGE_HUMAN	N	676	ENSP00000429018:S676N	ENSP00000429018:S676N	S	+	2	0	PCDHGB2	140721913	0.000000	0.05858	0.045000	0.18777	0.027000	0.11550	0.655000	0.24933	1.220000	0.43490	0.454000	0.30748	AGC		0.602	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374741.1	NM_018923		A	140741729	G	A	140741729	3	1	660	1	0	0	0	0	1	0	0	0	11565	971	34	2	2029	2	PCDHGB2	5	140741729	Missense_Mutation	SNP	G	TCGA-GL-7773-01A-11D-2136-08	42549430	140741729	40173531	41	35928											
F12	2161	hgsc.bcm.edu	37	5	176829362	176829363	+	Frame_Shift_Del	DEL	GC	GC	-	rs375101670		TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	GC	GC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr5:176829362_176829363delGC	ENST00000253496.3	-	14	1826_1827	c.1778_1779delGC	c.(1777-1779)cgcfs	p.R593fs	F12_ENST00000514943.1_5'Flank|PFN3_ENST00000358571.2_5'Flank	NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	593	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				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)	CTGGCTTGTTGCGGTCACCACA	0.619									Hereditary Angioedema																																							0																																										SO:0001589	frameshift_variant	2161	Familial Cancer Database	HAE, type I-III, Hereditary Angioneurotic Edema, HANE,	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.1778_1779delGC	chr5.hg19:g.176829362_176829363delGC	ENSP00000253496:p.Arg593fs		P78339	Frame_Shift_Del	DEL	ENST00000253496.3	hg19	CCDS34302.1																																																																																				0.619	F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373217.1			-	176829363	GC	-	176829362	7	5	660	1	0	1	0	1	0	0	0	0	5341	1306	46	0	72	0	F12	5	176829362	Frame_Shift_Del	DEL	GC	TCGA-GL-7773-01A-11D-2136-08	36087633	176829362	4085898	42	35929											
FLT4	2324	hgsc.bcm.edu	37	5	180030377	180030377	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr5:180030377C>T	ENST00000261937.6	-	30	3985	c.3907G>A	c.(3907-3909)Ggc>Agc	p.G1303S		NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1303					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)	ACATTCTGGCCAGGTCCTTTA	0.617																																					Colon(97;1075 1466 27033 27547 35871)											0													24	26	25					5																	180030377		2203	4300	6503	SO:0001583	missense	2324			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.3907G>A	chr5.hg19:g.180030377C>T	ENSP00000261937:p.Gly1303Ser		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	hg19	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	C	9.313	1.056047	0.19907	.	.	ENSG00000037280	ENST00000261937	T	0.75050	-0.9	4.62	2.77	0.32553	.	.	.	.	.	T	0.50292	0.1607	L	0.27053	0.805	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.42015	-0.9476	9	0.02654	T	1	.	1.1998	0.01882	0.2134:0.4115:0.2083:0.1668	.	1303	P35916	VGFR3_HUMAN	S	1303	ENSP00000261937:G1303S	ENSP00000261937:G1303S	G	-	1	0	FLT4	179962983	0.001000	0.12720	0.010000	0.14722	0.901000	0.52897	0.037000	0.13840	1.051000	0.40369	0.471000	0.43371	GGC		0.617	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			T	180030377	C	T	180030377	3	4	660	1	0	0	0	0	1	0	0	0	5946	594	21	2	188	2	FLT4	5	180030377	Missense_Mutation	SNP	C	TCGA-GL-7773-01A-11D-2136-08	3201015	180030377	884883	43	35930											
CDKAL1	54901	hgsc.bcm.edu	37	6	20548882	20548882	+	Missense_Mutation	SNP	T	T	G			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr6:20548882T>G	ENST00000378610.1	+	2	242	c.232T>G	c.(232-234)Tca>Gca	p.S78A	CDKAL1_ENST00000378624.4_Intron|CDKAL1_ENST00000274695.4_Missense_Mutation_p.S78A			Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	78	MTTase N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00780}.				maintenance of translational fidelity (GO:1990145)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|N6-threonylcarbomyladenosine methylthiotransferase activity (GO:0035598)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			TCATAATAATTCAGATGGAGA	0.294																																																0													80	85	83					6																	20548882		2203	4300	6503	SO:0001583	missense	54901			AK000349	CCDS4546.1	6p22.2	2008-02-05			ENSG00000145996	ENSG00000145996			21050	protein-coding gene	gene with protein product		611259					Standard	NM_017774		Approved	FLJ20342	uc003ndd.2	Q5VV42	OTTHUMG00000014340	ENST00000378610.1:c.232T>G	chr6.hg19:g.20548882T>G	ENSP00000367873:p.Ser78Ala		A8K6S0|Q6P385|Q6ZR27|Q9NXB3	Missense_Mutation	SNP	ENST00000378610.1	hg19	CCDS4546.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.515717	0.85389	.	.	ENSG00000145996	ENST00000274695;ENST00000378610	T;T	0.43688	0.94;0.94	5.81	5.81	0.92471	Methylthiotransferase, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.49372	0.1553	L	0.52823	1.66	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.83275	0.951;0.996	T	0.39313	-0.9620	10	0.24483	T	0.36	.	16.1708	0.81812	0.0:0.0:0.0:1.0	.	78;78	Q5VV42;Q5VV42-3	CDKAL_HUMAN;.	A	78	ENSP00000274695:S78A;ENSP00000367873:S78A	ENSP00000274695:S78A	S	+	1	0	CDKAL1	20656861	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.400000	0.79949	2.225000	0.72522	0.533000	0.62120	TCA		0.294	CDKAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039986.1	NM_017774		G	20548882	T	G	20548882	3	3	660	1	0	0	0	0	1	0	0	0	3154	1783	62	5	238	5	CDKAL1	6	20548882	Missense_Mutation	SNP	T	TCGA-GL-7773-01A-11D-2136-08		20548882	150566185	44	35931											
COL9A1	1297	hgsc.bcm.edu	37	6	71003975	71003975	+	Silent	SNP	G	G	A			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr6:71003975G>A	ENST00000357250.6	-	5	749	c.591C>T	c.(589-591)gaC>gaT	p.D197D	COL9A1_ENST00000370496.3_Silent_p.D197D	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	197	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						TCCTGTTGCAGTCAACAAAAA	0.433																																																0													128	124	125					6																	71003975		2203	4300	6503	SO:0001819	synonymous_variant	1297				CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.591C>T	chr6.hg19:g.71003975G>A			Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Silent	SNP	ENST00000357250.6	hg19	CCDS4971.1																																																																																				0.433	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2			A	71003975	G	A	71003975	2	1	660	1	0	0	0	0	0	0	0	1	3709	1020	36	2		2	COL9A1	6	71003975	Silent	SNP	G	TCGA-GL-7773-01A-11D-2136-08	50455093	71003975	100111092	45	35932											
BACH2	60468	hgsc.bcm.edu	37	6	90660214	90660214	+	Silent	SNP	G	G	A			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr6:90660214G>A	ENST00000257749.4	-	7	2318	c.1611C>T	c.(1609-1611)ccC>ccT	p.P537P	BACH2_ENST00000343122.3_Silent_p.P537P|RP3-512E2.2_ENST00000445838.1_RNA|BACH2_ENST00000537989.1_Silent_p.P537P|RP3-512E2.2_ENST00000413986.1_RNA	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	537						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)		GGAGGCTGCAGGGTGAGCCCC	0.612																																																0													69	68	68					6																	90660214		2203	4300	6503	SO:0001819	synonymous_variant	60468			AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"BTB/POZ domain containing", "basic leucine zipper proteins"	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.1611C>T	chr6.hg19:g.90660214G>A			E1P518|Q59H70|Q5T793|Q9NTS5	Silent	SNP	ENST00000257749.4	hg19	CCDS5026.1																																																																																				0.612	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041522.2	NM_021813		A	90660214	G	A	90660214	2	1	660	1	0	0	0	0	0	0	0	1	1284	987	35	2		2	BACH2	6	90660214	Silent	SNP	G	TCGA-GL-7773-01A-11D-2136-08	19656239	90660214	80454853	46	35933											
PREP	5550	hgsc.bcm.edu	37	6	105776878	105776878	+	Missense_Mutation	SNP	T	T	A			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr6:105776878T>A	ENST00000369110.3	-	9	1231	c.1039A>T	c.(1039-1041)Aac>Tac	p.N347Y		NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	347					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	ACCAAGAAGTTGGACCTGACA	0.413																																																0													71	73	73					6																	105776878		2203	4300	6503	SO:0001583	missense	5550				CCDS5053.1	6q22	2008-02-05			ENSG00000085377	ENSG00000085377	3.4.21.26		9358	protein-coding gene	gene with protein product		600400				7959018	Standard	NM_002726		Approved		uc003prc.3	P48147	OTTHUMG00000015297	ENST00000369110.3:c.1039A>T	chr6.hg19:g.105776878T>A	ENSP00000358106:p.Asn347Tyr		Q8N6D4	Missense_Mutation	SNP	ENST00000369110.3	hg19	CCDS5053.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.627037	0.87560	.	.	ENSG00000085377	ENST00000369110	T	0.47528	0.84	5.48	5.48	0.80851	Peptidase S9A, oligopeptidase, N-terminal (1);Peptidase S9A/B/C, oligopeptidase, N-terminal beta-propeller (2);	0.123452	0.85682	D	0.000000	T	0.60143	0.2246	M	0.83223	2.63	0.58432	D	0.999996	D	0.54047	0.964	P	0.57009	0.811	T	0.67860	-0.5561	10	0.72032	D	0.01	-30.1871	15.8535	0.78956	0.0:0.0:0.0:1.0	.	347	P48147	PPCE_HUMAN	Y	347	ENSP00000358106:N347Y	ENSP00000358106:N347Y	N	-	1	0	PREP	105883571	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.655000	0.83696	2.207000	0.71202	0.459000	0.35465	AAC		0.413	PREP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041658.1			A	105776878	T	A	105776878	3	1	660	1	0	0	0	0	1	0	0	0	12479	1812	63	5	1121	5	PREP	6	105776878	Missense_Mutation	SNP	T	TCGA-GL-7773-01A-11D-2136-08	15116664	105776878	65338189	47	35934											
SEMA3A	10371	hgsc.bcm.edu	37	7	83631283	83631283	+	Missense_Mutation	SNP	C	C	A			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr7:83631283C>A	ENST00000265362.4	-	12	1754	c.1440G>T	c.(1438-1440)atG>atT	p.M480I	SEMA3A_ENST00000436949.1_Missense_Mutation_p.M480I	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	480	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						GAAAAACTGTCATTTCTTCCA	0.428																																																0													130	118	122					7																	83631283		2203	4300	6503	SO:0001583	missense	10371			L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10723	protein-coding gene	gene with protein product	"sema III"	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.1440G>T	chr7.hg19:g.83631283C>A	ENSP00000265362:p.Met480Ile			Missense_Mutation	SNP	ENST00000265362.4	hg19	CCDS5599.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.665855	0.88251	.	.	ENSG00000075213	ENST00000265362;ENST00000436949	T;T	0.09073	3.02;3.02	5.36	5.36	0.76844	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.09113	0.0225	N	0.10809	0.05	0.80722	D	1	P	0.42039	0.769	P	0.47162	0.54	T	0.46303	-0.9201	10	0.28530	T	0.3	.	19.4559	0.94889	0.0:1.0:0.0:0.0	.	480	Q14563	SEM3A_HUMAN	I	480	ENSP00000265362:M480I;ENSP00000415260:M480I	ENSP00000265362:M480I	M	-	3	0	SEMA3A	83469219	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.722000	0.84778	2.669000	0.90835	0.591000	0.81541	ATG		0.428	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2	NM_006080		A	83631283	C	A	83631283	3	1	660	1	0	0	0	0	1	0	0	0	14030	826	29	4	899	4	SEMA3A	7	83631283	Missense_Mutation	SNP	C	TCGA-GL-7773-01A-11D-2136-08		83631283	75507380	48	35935											
SLC25A13	10165	hgsc.bcm.edu	37	7	95818645	95818645	+	Silent	SNP	C	C	T			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr7:95818645C>T	ENST00000265631.5	-	9	1030	c.894G>A	c.(892-894)gaG>gaA	p.E298E	SLC25A13_ENST00000416240.2_Silent_p.E298E|SLC25A13_ENST00000542654.1_Silent_p.E190E			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	298					aspartate transport (GO:0015810)|ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular respiration (GO:0045333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|transporter activity (GO:0005215)			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	GCAGAGTTCCCTCTTCCAGAG	0.458																																																0													93	91	91					7																	95818645		2203	4300	6503	SO:0001819	synonymous_variant	10165			AF118838	CCDS5645.1, CCDS55130.1	7q21.3	2013-05-22	2012-03-29		ENSG00000004864	ENSG00000004864		"Solute carriers", "EF-hand domain containing"	10983	protein-coding gene	gene with protein product	"mitochondrial aspartate glutamate carrier 2"	603859	"solute carrier family 25, member 13 (citrin)"	CTLN2		10369257	Standard	NM_014251		Approved	CITRIN, ARALAR2	uc003uog.4	Q9UJS0	OTTHUMG00000023074	ENST00000265631.5:c.894G>A	chr7.hg19:g.95818645C>T			O14566|O14575|Q546F9|Q9NZW1|Q9UNI7	Silent	SNP	ENST00000265631.5	hg19	CCDS5645.1																																																																																				0.458	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059395.2	NM_014251		T	95818645	C	T	95818645	2	4	660	1	0	0	0	0	0	0	0	1	14481	680	24	2		2	SLC25A13	7	95818645	Silent	SNP	C	TCGA-GL-7773-01A-11D-2136-08	12187362	95818645	63320018	49	35936											
RP1L1	94137	hgsc.bcm.edu	37	8	10466983	10466983	+	Missense_Mutation	SNP	C	C	A			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr8:10466983C>A	ENST00000382483.3	-	4	4848	c.4625G>T	c.(4624-4626)cGa>cTa	p.R1542L		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1622					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)		CCAGCGTGCTCGGAGCTCAGC	0.647																																																0													22	26	25					8																	10466983		2119	4242	6361	SO:0001583	missense	94137			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.4625G>T	chr8.hg19:g.10466983C>A	ENSP00000371923:p.Arg1542Leu		Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	hg19	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	C	9.421	1.083074	0.20309	.	.	ENSG00000183638	ENST00000382483	T	0.07327	3.2	5.32	-0.24	0.13047	.	0.320649	0.17484	U	0.172610	T	0.03959	0.0111	L	0.29908	0.895	0.09310	N	1	P	0.44309	0.832	B	0.31442	0.13	T	0.40365	-0.9567	10	0.66056	D	0.02	-2.2884	3.8382	0.08903	0.175:0.3157:0.0:0.5092	.	1542	A6NKC6	.	L	1542	ENSP00000371923:R1542L	ENSP00000371923:R1542L	R	-	2	0	RP1L1	10504393	0.988000	0.35896	0.001000	0.08648	0.017000	0.09413	2.285000	0.43487	0.252000	0.21531	0.491000	0.48974	CGA		0.647	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			A	10466983	C	A	10466983	3	1	660	1	0	0	0	0	1	0	0	0	13539	884	31	4	2581	4	RP1L1	8	10466983	Missense_Mutation	SNP	C	TCGA-GL-7773-01A-11D-2136-08		10466983	135897039	50	35937											
CA13	377677	hgsc.bcm.edu	37	8	86180770	86180770	+	Missense_Mutation	SNP	T	T	G			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr8:86180770T>G	ENST00000321764.3	+	6	885	c.583T>G	c.(583-585)Tat>Gat	p.Y195D	CA13_ENST00000517298.1_3'UTR	NM_198584.2	NP_940986.1	Q8N1Q1	CAH13_HUMAN	carbonic anhydrase XIII	195					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)	CTACTGGACATATCCTGGTTC	0.398																																																0													180	163	169					8																	86180770		2203	4300	6503	SO:0001583	missense	377677			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.583T>G	chr8.hg19:g.86180770T>G	ENSP00000318912:p.Tyr195Asp			Missense_Mutation	SNP	ENST00000321764.3	hg19	CCDS6236.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.582688	0.86748	.	.	ENSG00000185015	ENST00000321764	D	0.83914	-1.78	5.5	5.5	0.81552	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.000000	0.85682	D	0.000000	D	0.95401	0.8507	H	0.99689	4.705	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97404	0.9998	10	0.87932	D	0	-19.1625	14.5856	0.68322	0.0:0.0:0.0:1.0	.	195	Q8N1Q1	CAH13_HUMAN	D	195	ENSP00000318912:Y195D	ENSP00000318912:Y195D	Y	+	1	0	CA13	86368022	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	7.311000	0.78958	2.104000	0.64026	0.383000	0.25322	TAT		0.398	CA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381066.1	NM_198584		G	86180770	T	G	86180770	3	3	660	1	0	0	0	0	1	0	0	0	2516	1406	49	5	605	5	CA13	8	86180770	Missense_Mutation	SNP	T	TCGA-GL-7773-01A-11D-2136-08	75713787	86180770	60183252	51	35938											
EFR3A	23167	hgsc.bcm.edu	37	8	132982859	132982859	+	Missense_Mutation	SNP	G	G	T			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr8:132982859G>T	ENST00000254624.5	+	10	1353	c.1128G>T	c.(1126-1128)aaG>aaT	p.K376N	EFR3A_ENST00000519656.1_Missense_Mutation_p.K340N|EFR3A_ENST00000334503.4_Missense_Mutation_p.K376N	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	376						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)			ATGATGAGAAGATTGTGCAGA	0.378																																																0													124	124	124					8																	132982859		2203	4300	6503	SO:0001583	missense	23167			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.1128G>T	chr8.hg19:g.132982859G>T	ENSP00000254624:p.Lys376Asn		A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	Missense_Mutation	SNP	ENST00000254624.5	hg19	CCDS34942.2	.	.	.	.	.	.	.	.	.	.	G	14.63	2.592563	0.46214	.	.	ENSG00000132294	ENST00000254624;ENST00000377917;ENST00000334503;ENST00000519656	T;T;T	0.67345	3.52;3.52;-0.26	5.56	4.68	0.58851	Armadillo-like helical (1);Armadillo-type fold (1);	0.045081	0.85682	D	0.000000	T	0.58764	0.2145	L	0.47190	1.495	0.38491	D	0.947988	B	0.28512	0.214	B	0.30782	0.12	T	0.59563	-0.7431	10	0.39692	T	0.17	-19.1717	10.108	0.42546	0.073:0.0:0.789:0.138	.	376	Q14156	EFR3A_HUMAN	N	376;376;376;340	ENSP00000254624:K376N;ENSP00000334769:K376N;ENSP00000428086:K340N	ENSP00000254624:K376N	K	+	3	2	EFR3A	133052041	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.792000	0.47837	1.342000	0.45619	0.585000	0.79938	AAG		0.378	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318886.1	NM_015137		T	132982859	G	T	132982859	3	4	660	1	0	0	0	0	1	0	0	0	4960	933	33	4	1166	4	EFR3A	8	132982859	Missense_Mutation	SNP	G	TCGA-GL-7773-01A-11D-2136-08	46802089	132982859	13381163	52	35939											
KIAA0020	9933	hgsc.bcm.edu	37	9	2810352	2810352	+	Missense_Mutation	SNP	C	C	G			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr9:2810352C>G	ENST00000397885.2	-	16	1921	c.1715G>C	c.(1714-1716)gGg>gCg	p.G572A		NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	572						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)		ACCTTCTCTCCCATTTTCTTT	0.393																																																0													225	188	201					9																	2810352		2203	4300	6503	SO:0001583	missense	9933			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.1715G>C	chr9.hg19:g.2810352C>G	ENSP00000380982:p.Gly572Ala		A8K804|Q547G7|Q5SZY9|Q6IB47|Q96B27|Q96L78|Q96L79|Q96L80	Missense_Mutation	SNP	ENST00000397885.2	hg19	CCDS6448.2	.	.	.	.	.	.	.	.	.	.	C	11.75	1.731430	0.30684	.	.	ENSG00000080608	ENST00000397885	T	0.50548	0.74	5.95	5.05	0.67936	CPL (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.046170	0.85682	D	0.000000	T	0.48607	0.1509	M	0.73962	2.25	0.45528	D	0.998487	B;B	0.12013	0.005;0.001	B;B	0.15870	0.014;0.006	T	0.44682	-0.9312	10	0.21014	T	0.42	-18.5072	14.8914	0.70611	0.0:0.7295:0.2705:0.0	.	432;572	B2RDG4;Q15397	.;K0020_HUMAN	A	572	ENSP00000380982:G572A	ENSP00000380982:G572A	G	-	2	0	KIAA0020	2800352	1.000000	0.71417	0.326000	0.25389	0.569000	0.35902	2.906000	0.48735	1.521000	0.48983	0.650000	0.86243	GGG		0.393	KIAA0020-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051529.3	NM_014878		G	2810352	C	G	2810352	3	3	660	1	0	0	0	0	1	0	0	0	8154	623	22	4	243	4	KIAA0020	9	2810352	Missense_Mutation	SNP	C	TCGA-GL-7773-01A-11D-2136-08		2810352	138403079	53	35940											
PRSS3	5646	hgsc.bcm.edu	37	9	33798069	33798069	+	Missense_Mutation	SNP	T	T	C			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr9:33798069T>C	ENST00000361005.5	+	3	614	c.614T>C	c.(613-615)cTg>cCg	p.L205P	RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000429677.3_Missense_Mutation_p.L141P|PRSS3_ENST00000342836.4_Missense_Mutation_p.L162P|PRSS3_ENST00000379405.3_Missense_Mutation_p.L148P	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3	205	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)			GGCAACACTCTGAGCTTTGGT	0.572																																																0													130	111	117					9																	33798069		2203	4300	6503	SO:0001583	missense	5646				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.614T>C	chr9.hg19:g.33798069T>C	ENSP00000354280:p.Leu205Pro		A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	Missense_Mutation	SNP	ENST00000361005.5	hg19	CCDS47958.1	.	.	.	.	.	.	.	.	.	.	T	10.01	1.233504	0.22626	.	.	ENSG00000010438	ENST00000361005;ENST00000457896;ENST00000342836;ENST00000429677;ENST00000379405	D;D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41;-2.41	3.61	-1.02	0.10135	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.210916	0.40908	D	0.000985	D	0.83248	0.5213	L	0.27053	0.805	0.58432	D	0.999996	P;P;P	0.52170	0.477;0.951;0.649	P;P;P	0.55785	0.589;0.784;0.485	T	0.76798	-0.2826	10	0.45353	T	0.12	.	2.3719	0.04332	0.3669:0.2296:0.0:0.4035	.	148;205;162	P35030-3;P35030;P35030-4	.;TRY3_HUMAN;.	P	205;160;162;141;148	ENSP00000354280:L205P;ENSP00000401249:L160P;ENSP00000340889:L162P;ENSP00000401828:L141P;ENSP00000368715:L148P	ENSP00000340889:L162P	L	+	2	0	PRSS3	33788069	0.949000	0.32298	0.976000	0.42696	0.018000	0.09664	1.089000	0.30890	-0.026000	0.13895	-0.753000	0.03488	CTG		0.572	PRSS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052121.1	NM_002771		C	33798069	T	C	33798069	3	2	660	1	0	0	0	0	1	0	0	0	12627	1580	55	3	668	3	PRSS3	9	33798069	Missense_Mutation	SNP	T	TCGA-GL-7773-01A-11D-2136-08	30987717	33798069	107415362	54	35941											
SEMA4D	10507	hgsc.bcm.edu	37	9	92007357	92007357	+	Nonsense_Mutation	SNP	A	A	T			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr9:92007357A>T	ENST00000450295.1	-	8	1379	c.603T>A	c.(601-603)taT>taA	p.Y201*	SEMA4D_ENST00000420987.1_Nonsense_Mutation_p.Y201*|SEMA4D_ENST00000339861.4_Nonsense_Mutation_p.Y201*|SEMA4D_ENST00000455551.2_Nonsense_Mutation_p.Y201*|SEMA4D_ENST00000356444.2_Nonsense_Mutation_p.Y201*|SEMA4D_ENST00000422704.2_Nonsense_Mutation_p.Y201*|SEMA4D_ENST00000438547.2_Nonsense_Mutation_p.Y201*|SEMA4D_ENST00000343780.4_Nonsense_Mutation_p.Y201*			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	201	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				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						AAGGGATTGCATATTCTGTCC	0.488																																																0													125	112	117					9																	92007357		2203	4300	6503	SO:0001587	stop_gained	10507			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.603T>A	chr9.hg19:g.92007357A>T	ENSP00000416523:p.Tyr201*		B2RPM6|Q7Z5S4|Q8N8B0	Nonsense_Mutation	SNP	ENST00000450295.1	hg19	CCDS6685.1	.	.	.	.	.	.	.	.	.	.	G	38	6.945547	0.97956	.	.	ENSG00000187764	ENST00000339861;ENST00000420987;ENST00000455551;ENST00000343780;ENST00000450295;ENST00000438547;ENST00000356444;ENST00000422704	.	.	.	5.92	-9.64	0.00541	.	0.057514	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	23.1558	0.99980	0.8226:0.0:0.1774:0.0	.	.	.	.	X	201	.	ENSP00000344923:Y201X	Y	-	3	2	SEMA4D	91197177	0.023000	0.18921	0.008000	0.14137	0.015000	0.08874	-0.722000	0.04958	-2.623000	0.00438	-1.874000	0.00550	TAT		0.488	SEMA4D-018	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342411.1	NM_006378		T	92007357	A	T	92007357	4	4	660	1	0	0	0	0	0	1	0	0	14040	224	8	5	2591	5	SEMA4D	9	92007357	Nonsense_Mutation	SNP	A	TCGA-GL-7773-01A-11D-2136-08	58209288	92007357	49206074	55	35942											
NUP214	8021	hgsc.bcm.edu	37	9	134019822	134019822	+	Missense_Mutation	SNP	T	T	A			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr9:134019822T>A	ENST00000359428.5	+	12	1594	c.1450T>A	c.(1450-1452)Ttt>Att	p.F484I	RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA|NUP214_ENST00000411637.2_Missense_Mutation_p.F484I|NUP214_ENST00000451030.1_Missense_Mutation_p.F484I|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000589667.1_RNA			P35658	NU214_HUMAN	nucleoporin 214kDa	484	11 X 5 AA approximate repeats.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|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)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TGTGTTCTCCTTTGGTTCTTC	0.582			T	"DEK, SET, ABL1"	"AML, T-ALL"																																Pancreas(4;24 48 25510 30394 32571)		Dom	yes		9	9q34.1	8021	nucleoporin 214kDa (CAN)		L	0													222	224	223					9																	134019822		2203	4300	6503	SO:0001583	missense	8021			X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"nuclear pore complex protein Nup214", "CAN protein, putative oncogene"	114350	"nucleoporin 214kD (CAIN)"			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.1450T>A	chr9.hg19:g.134019822T>A	ENSP00000352400:p.Phe484Ile		A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	ENST00000359428.5	hg19	CCDS6940.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.429164	0.83776	.	.	ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375;ENST00000540899	T;T;T	0.79653	-1.29;-1.29;-1.29	5.79	5.79	0.91817	.	0.000000	0.42053	D	0.000772	T	0.72867	0.3514	N	0.08118	0	0.45554	D	0.998503	D;D	0.56287	0.975;0.975	P;P	0.51516	0.591;0.672	T	0.77928	-0.2404	10	0.52906	T	0.07	-18.8096	13.8602	0.63554	0.0:0.0:0.0:1.0	.	484;484	P35658-4;P35658	.;NU214_HUMAN	I	484;484;484;484;77	ENSP00000352400:F484I;ENSP00000396576:F484I;ENSP00000405014:F484I	ENSP00000352400:F484I	F	+	1	0	NUP214	133009643	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	3.193000	0.50997	2.201000	0.70794	0.533000	0.62120	TTT		0.582	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		A	134019822	T	A	134019822	3	1	660	1	0	0	0	0	1	0	0	0	10764	1609	56	5	1496	5	NUP214	9	134019822	Missense_Mutation	SNP	T	TCGA-GL-7773-01A-11D-2136-08	42012465	134019822	7193609	56	35943											
PFKFB3	5209	hgsc.bcm.edu	37	10	6258717	6258717	+	Missense_Mutation	SNP	C	C	A			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr10:6258717C>A	ENST00000379775.4	+	5	745	c.415C>A	c.(415-417)Cat>Aat	p.H139N	PFKFB3_ENST00000379785.1_Missense_Mutation_p.H139N|PFKFB3_ENST00000379789.4_Missense_Mutation_p.H119N|PFKFB3_ENST00000360521.2_Missense_Mutation_p.H139N|PFKFB3_ENST00000540253.1_Missense_Mutation_p.H153N|PFKFB3_ENST00000317350.4_Missense_Mutation_p.H139N|PFKFB3_ENST00000536985.1_Missense_Mutation_p.H119N|PFKFB3_ENST00000379782.3_Missense_Mutation_p.H139N	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	139	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						CATGATCCTTCATTTTGCCAA	0.463																																																0													215	210	211					10																	6258717		2203	4300	6503	SO:0001583	missense	5209				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.415C>A	chr10.hg19:g.6258717C>A	ENSP00000369100:p.His139Asn		B7Z955|O43622|O75902|Q5VX15|Q5VX18|Q5VX19	Missense_Mutation	SNP	ENST00000379775.4	hg19	CCDS7078.1	.	.	.	.	.	.	.	.	.	.	C	5.826	0.336691	0.11013	.	.	ENSG00000170525	ENST00000536985;ENST00000379789;ENST00000540253;ENST00000317350;ENST00000379785;ENST00000379782;ENST00000360521;ENST00000379775;ENST00000358499	.	.	.	5.71	1.54	0.23209	6-phosphofructo-2-kinase (1);	0.496023	0.24935	N	0.034432	T	0.06554	0.0168	N	0.00408	-1.53	0.20403	N	0.999904	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.0;0.0	T	0.40905	-0.9538	9	0.05620	T	0.96	-18.1641	9.3897	0.38365	0.3959:0.419:0.1851:0.0	.	153;139;139;119	B7Z955;Q16875-2;Q16875;Q5VX15	.;.;F263_HUMAN;.	N	119;119;153;139;139;139;139;139;139	.	ENSP00000369105:H139N	H	+	1	0	PFKFB3	6298723	0.021000	0.18746	0.983000	0.44433	0.868000	0.49771	0.284000	0.18864	0.716000	0.32124	0.591000	0.81541	CAT		0.463	PFKFB3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046647.1			A	6258717	C	A	6258717	3	1	660	1	0	0	0	0	1	0	0	0	11764	826	29	4	453	4	PFKFB3	10	6258717	Missense_Mutation	SNP	C	TCGA-GL-7773-01A-11D-2136-08		6258717	129276030	57	35944	265	2									
PFKFB3	5209	hgsc.bcm.edu	37	10	6258719	6258719	+	Missense_Mutation	SNP	T	T	A			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr10:6258719T>A	ENST00000379775.4	+	5	747	c.417T>A	c.(415-417)caT>caA	p.H139Q	PFKFB3_ENST00000379785.1_Missense_Mutation_p.H139Q|PFKFB3_ENST00000379789.4_Missense_Mutation_p.H119Q|PFKFB3_ENST00000360521.2_Missense_Mutation_p.H139Q|PFKFB3_ENST00000540253.1_Missense_Mutation_p.H153Q|PFKFB3_ENST00000317350.4_Missense_Mutation_p.H139Q|PFKFB3_ENST00000536985.1_Missense_Mutation_p.H119Q|PFKFB3_ENST00000379782.3_Missense_Mutation_p.H139Q	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	139	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						TGATCCTTCATTTTGCCAAAG	0.468																																																0													212	207	209					10																	6258719		2203	4300	6503	SO:0001583	missense	5209				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.417T>A	chr10.hg19:g.6258719T>A	ENSP00000369100:p.His139Gln		B7Z955|O43622|O75902|Q5VX15|Q5VX18|Q5VX19	Missense_Mutation	SNP	ENST00000379775.4	hg19	CCDS7078.1	.	.	.	.	.	.	.	.	.	.	T	7.097	0.573259	0.13623	.	.	ENSG00000170525	ENST00000536985;ENST00000379789;ENST00000540253;ENST00000317350;ENST00000379785;ENST00000379782;ENST00000360521;ENST00000379775;ENST00000358499	.	.	.	5.71	0.992	0.19819	6-phosphofructo-2-kinase (1);	0.496023	0.24935	N	0.034432	T	0.13586	0.0329	N	0.01168	-0.975	0.30946	N	0.72524	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.003;0.0;0.0;0.0	T	0.24512	-1.0158	9	0.13470	T	0.59	-18.1641	10.2567	0.43401	0.0:0.3897:0.0:0.6103	.	153;139;139;119	B7Z955;Q16875-2;Q16875;Q5VX15	.;.;F263_HUMAN;.	Q	119;119;153;139;139;139;139;139;139	.	ENSP00000369105:H139Q	H	+	3	2	PFKFB3	6298725	0.869000	0.29996	0.999000	0.59377	0.820000	0.46376	-0.073000	0.11468	0.448000	0.26722	-0.376000	0.06991	CAT		0.468	PFKFB3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046647.1			A	6258719	T	A	6258719	3	1	660	1	0	0	0	0	1	0	0	0	11764	1490	52	5	455	5	PFKFB3	10	6258719	Missense_Mutation	SNP	T	TCGA-GL-7773-01A-11D-2136-08	2	6258719	129276028	58	35945	265	2									
PRPF18	8559	hgsc.bcm.edu	37	10	13653627	13653627	+	Missense_Mutation	SNP	T	T	A			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr10:13653627T>A	ENST00000378572.3	+	6	683	c.523T>A	c.(523-525)Tcc>Acc	p.S175T		NM_003675.3	NP_003666.1	Q99633	PRP18_HUMAN	pre-mRNA processing factor 18	175					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						GCTTGGAGAGTCCTTAGGGAA	0.423																																																0													128	119	122					10																	13653627		2203	4300	6503	SO:0001583	missense	8559			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.523T>A	chr10.hg19:g.13653627T>A	ENSP00000367835:p.Ser175Thr		Q5T9P9|Q9BUI9	Missense_Mutation	SNP	ENST00000378572.3	hg19	CCDS7100.1	.	.	.	.	.	.	.	.	.	.	T	12.27	1.886622	0.33348	.	.	ENSG00000165630	ENST00000378572;ENST00000417658;ENST00000320054;ENST00000378544	.	.	.	5.59	5.59	0.84812	Prp18 (2);	0.105608	0.64402	D	0.000003	T	0.41419	0.1158	N	0.16478	0.41	0.45295	D	0.998291	B	0.06786	0.001	B	0.04013	0.001	T	0.28681	-1.0036	9	0.15499	T	0.54	-14.6828	15.7693	0.78152	0.0:0.0:0.0:1.0	.	175	Q99633	PRP18_HUMAN	T	175;169;160;169	.	ENSP00000367824:S160T	S	+	1	0	PRPF18	13693633	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	4.281000	0.58965	2.125000	0.65367	0.459000	0.35465	TCC		0.423	PRPF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046879.1			A	13653627	T	A	13653627	3	1	660	1	0	0	0	0	1	0	0	0	12568	1667	58	5	545	5	PRPF18	10	13653627	Missense_Mutation	SNP	T	TCGA-GL-7773-01A-11D-2136-08	7394908	13653627	121881120	59	35946											
CUBN	8029	hgsc.bcm.edu	37	10	16941136	16941136	+	Silent	SNP	A	A	G			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr10:16941136A>G	ENST00000377833.4	-	54	8522	c.8457T>C	c.(8455-8457)ccT>ccC	p.P2819P		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2819	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)	GAGGCCAGTGAGGGGATCTGA	0.398																																																0													129	121	124					10																	16941136		2203	4300	6503	SO:0001819	synonymous_variant	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.8457T>C	chr10.hg19:g.16941136A>G			B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	hg19	CCDS7113.1																																																																																				0.398	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		G	16941136	A	G	16941136	2	3	660	1	0	0	0	0	0	0	0	1	4053	291	11	3		3	CUBN	10	16941136	Silent	SNP	A	TCGA-GL-7773-01A-11D-2136-08	3287509	16941136	118593611	60	35947											
NRAP	4892	hgsc.bcm.edu	37	10	115365937	115365939	+	Splice_Site	TNP	GTC	GTC	TAA			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	G|T|C	G|T|C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr10:115365937_115365939GTC>TAA	ENST00000359988.3	-	33	4049_4051	c.3805_3807GAC>TTA	c.(3805-3807)GAC>TTA	p.D1269L	NRAP_ENST00000369358.4_Splice_Site_p.D1277L|NRAP_ENST00000360478.3_Splice_Site_p.D1234L|NRAP_ENST00000369360.3_Splice_Site_p.D1242L	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)		AAGGGCTTACGTCACTCAGGTTG	0.478																																																0																																										SO:0001630	splice_region_variant	4892				CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.3807+1GAC>TTA	chr10.hg19:g.115365937GTC>TAA				Missense_Mutation	SNP	ENST00000359988.3	hg19	CCDS7579.1																																																																																				0.478	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175	Missense_Mutation	TAA	115365939	GTC	TAA	115365937	5	4	660	1	0	0	0	0	0	0	1	0	10640	1159	40	4	1425	4	NRAP	10	115365937	Splice_Site	TNP	GTC	TCGA-GL-7773-01A-11D-2136-08	98424801	115365937	20168810	61	35948											
MPEG1	219972	hgsc.bcm.edu	37	11	58978386	58978386	+	Silent	SNP	A	A	T			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr11:58978386A>T	ENST00000361050.3	-	1	2038	c.1953T>A	c.(1951-1953)ggT>ggA	p.G651G		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	651						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)				CTCCTGACAGACCACCACCAT	0.577																																																0													100	108	105					11																	58978386		2014	4161	6175	SO:0001819	synonymous_variant	219972			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.1953T>A	chr11.hg19:g.58978386A>T			Q2M1T6|Q8TEF8	Silent	SNP	ENST00000361050.3	hg19	CCDS41650.1																																																																																				0.577	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370027.1	NM_001039396		T	58978386	A	T	58978386	2	4	660	1	0	0	0	0	0	0	0	1	9725	262	10	5		5	MPEG1	11	58978386	Silent	SNP	A	TCGA-GL-7773-01A-11D-2136-08		58978386	76028130	62	35949											
FLRT1	28992	hgsc.bcm.edu	37	11	63885635	63885635	+	Intron	SNP	G	G	A			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr11:63885635G>A	ENST00000255681.6	-	3	584				RP11-21A7A.3_ENST00000543817.1_RNA|FLRT1_ENST00000246841.3_Silent_p.E632E	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						CCAAAGAAGAGTACGTGGTCC	0.607																																																0													79	69	72					11																	63885635		2201	4297	6498	SO:0001627	intron_variant	23769			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+33075C>T	chr11.hg19:g.63885635G>A			Q9UH96	Silent	SNP	ENST00000255681.6	hg19	CCDS8056.1																																																																																				0.607	MACROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396570.1	NM_014067		A	63885635	G	A	63885635	1	1	660	0	1	0	0	0	0	0	0	0	5940	1020	36	2		2	FLRT1	11	63885635	Intron	SNP	G	TCGA-GL-7773-01A-11D-2136-08	4907249	63885635	71120881	63	35950											
PC	5091	hgsc.bcm.edu	37	11	66617172	66617172	+	Missense_Mutation	SNP	G	G	C			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr11:66617172G>C	ENST00000393958.2	-	20	3150	c.3057C>G	c.(3055-3057)caC>caG	p.H1019Q	PC_ENST00000393955.2_Missense_Mutation_p.H1019Q|PC_ENST00000529047.1_Missense_Mutation_p.H139Q|PC_ENST00000393960.1_Missense_Mutation_p.H1019Q|PC_ENST00000528224.1_5'UTR	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	1019					biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|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)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	AGTCCTTGAAGTGGGCAAACA	0.577																																																0													107	86	93					11																	66617172		2200	4295	6495	SO:0001583	missense	5091			U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.3057C>G	chr11.hg19:g.66617172G>C	ENSP00000377530:p.His1019Gln		B4DN00|Q16705	Missense_Mutation	SNP	ENST00000393958.2	hg19	CCDS8152.1	.	.	.	.	.	.	.	.	.	.	G	10.71	1.427583	0.25726	.	.	ENSG00000173599	ENST00000529047;ENST00000393955;ENST00000393958;ENST00000393960	D;D;D;D	0.95377	-1.52;-3.69;-3.69;-3.69	4.89	-4.28	0.03732	Carboxylase, conserved domain (1);	0.231260	0.33515	N	0.004840	T	0.79505	0.4457	N	0.00859	-1.14	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.59568	-0.7430	10	0.34782	T	0.22	-8.0574	7.3499	0.26684	0.0864:0.6092:0.163:0.1415	.	1019	P11498	PYC_HUMAN	Q	139;1019;1019;1019	ENSP00000435905:H139Q;ENSP00000377527:H1019Q;ENSP00000377530:H1019Q;ENSP00000377532:H1019Q	ENSP00000377527:H1019Q	H	-	3	2	PC	66373748	0.988000	0.35896	0.454000	0.27019	0.803000	0.45373	0.243000	0.18106	-0.607000	0.05738	0.462000	0.41574	CAC		0.577	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	NM_001040716		C	66617172	G	C	66617172	3	2	660	1	0	0	0	0	1	0	0	0	11499	1020	36	4	491	4	PC	11	66617172	Missense_Mutation	SNP	G	TCGA-GL-7773-01A-11D-2136-08	2731537	66617172	68389344	64	35951											
FUT4	2526	hgsc.bcm.edu	37	11	94278647	94278649	+	In_Frame_Del	DEL	TTT	TTT	-			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	TTT	TTT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr11:94278647_94278649delTTT	ENST00000358752.2	+	1	1631_1633	c.1348_1350delTTT	c.(1348-1350)tttdel	p.F450del	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)	450					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)				CTACGAGCGCTTTGTGCCCCGCG	0.655																																																0																																										SO:0001651	inframe_deletion	2526				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.1348_1350delTTT	chr11.hg19:g.94278647_94278649delTTT	ENSP00000351602:p.Phe450del		B2RMS0	In_Frame_Del	DEL	ENST00000358752.2	hg19	CCDS8301.1																																																																																				0.655	FUT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396327.2	NM_002033		-	94278649	TTT	-	94278647	7	5	660	1	0	1	0	1	0	0	0	0	6108	1609	56	0	1350	0	FUT4	11	94278647	In_Frame_Del	DEL	TTT	TCGA-GL-7773-01A-11D-2136-08	27661475	94278647	40727869	65	35952											
DRD2	1813	hgsc.bcm.edu	37	11	113288847	113288847	+	Silent	SNP	C	C	T			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr11:113288847C>T	ENST00000362072.3	-	3	641	c.297G>A	c.(295-297)gaG>gaA	p.E99E	DRD2_ENST00000355319.2_Silent_p.E99E|DRD2_ENST00000346454.3_Silent_p.E99E|DRD2_ENST00000535984.1_5'UTR|DRD2_ENST00000542968.1_Silent_p.E99E|DRD2_ENST00000538967.1_Silent_p.E99E|DRD2_ENST00000544518.1_Silent_p.E98E	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	99					activation of protein kinase activity (GO:0032147)|adenohypophysis development (GO:0021984)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adult walking behavior (GO:0007628)|arachidonic acid secretion (GO:0050482)|associative learning (GO:0008306)|auditory behavior (GO:0031223)|axonogenesis (GO:0007409)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|branching morphogenesis of a nerve (GO:0048755)|cellular calcium ion homeostasis (GO:0006874)|cerebral cortex GABAergic interneuron migration (GO:0021853)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|feeding behavior (GO:0007631)|G-protein coupled receptor internalization (GO:0002031)|grooming behavior (GO:0007625)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, sleep (GO:0042321)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of insulin secretion (GO:0046676)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron-neuron synaptic transmission (GO:0007270)|orbitofrontal cortex development (GO:0021769)|peristalsis (GO:0030432)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|pigmentation (GO:0043473)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of receptor internalization (GO:0002092)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|prepulse inhibition (GO:0060134)|protein localization (GO:0008104)|regulation of cAMP metabolic process (GO:0030814)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of heart rate (GO:0002027)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of potassium ion transport (GO:0043266)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, GABAergic (GO:0032228)|release of sequestered calcium ion into cytosol (GO:0051209)|response to amphetamine (GO:0001975)|response to axon injury (GO:0048678)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to hypoxia (GO:0001666)|response to inactivity (GO:0014854)|response to iron ion (GO:0010039)|response to light stimulus (GO:0009416)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to toxic substance (GO:0009636)|sensory perception of smell (GO:0007608)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|visual learning (GO:0008542)|Wnt signaling pathway (GO:0016055)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|axon terminus (GO:0043679)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|sperm flagellum (GO:0036126)|synaptic vesicle membrane (GO:0030672)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)|identical protein binding (GO:0042802)|potassium channel regulator activity (GO:0015459)			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acepromazine(DB01614)|Acetophenazine(DB01063)|Alizapride(DB01425)|Amantadine(DB00915)|Amisulpride(DB06288)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Desipramine(DB01151)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Droperidol(DB00450)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Memantine(DB01043)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Metoclopramide(DB01233)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sertindole(DB06144)|Sulpiride(DB00391)|Tetrabenazine(DB04844)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TGAATTTCCACTCACCTACCA	0.532																																																0													171	121	138					11																	113288847		2201	4296	6497	SO:0001819	synonymous_variant	1813			M29066	CCDS8361.1, CCDS8362.1	11q22-q23	2012-08-08						"GPCR / Class A : Dopamine receptors"	3023	protein-coding gene	gene with protein product		126450					Standard	NM_000795		Approved		uc001poa.4	P14416		ENST00000362072.3:c.297G>A	chr11.hg19:g.113288847C>T			Q9NZR3|Q9UPA9	Silent	SNP	ENST00000362072.3	hg19	CCDS8361.1																																																																																				0.532	DRD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395834.1	NM_000795		T	113288847	C	T	113288847	2	4	660	1	0	0	0	0	0	0	0	1	4759	564	20	2		2	DRD2	11	113288847	Silent	SNP	C	TCGA-GL-7773-01A-11D-2136-08	19010200	113288847	21717669	66	35953											
IGSF9B	22997	hgsc.bcm.edu	37	11	133816079	133816079	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr11:133816079C>T	ENST00000321016.8	-	2	369	c.139G>A	c.(139-141)Gtg>Atg	p.V47M	IGSF9B_ENST00000533871.2_Missense_Mutation_p.V47M			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	47	Ig-like 1.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GGGTGGATCACGTCGCATCGC	0.627																																																0													50	57	54					11																	133816079		2145	4233	6378	SO:0001583	missense	22997			AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.139G>A	chr11.hg19:g.133816079C>T	ENSP00000317980:p.Val47Met		G5EA26	Missense_Mutation	SNP	ENST00000321016.8	hg19		.	.	.	.	.	.	.	.	.	.	C	32	5.124674	0.94429	.	.	ENSG00000080854	ENST00000321016;ENST00000527648;ENST00000533160;ENST00000526663	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	5.41	5.41	0.78517	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000025	T	0.82144	0.4973	M	0.75884	2.315	0.58432	D	0.999999	D	0.89917	1.0	D	0.74023	0.982	D	0.84066	0.0377	10	0.87932	D	0	.	18.8177	0.92084	0.0:1.0:0.0:0.0	.	47	Q9UPX0	TUTLB_HUMAN	M	47;47;37;94	ENSP00000317980:V47M;ENSP00000436576:V47M;ENSP00000434026:V37M;ENSP00000435989:V94M	ENSP00000317980:V47M	V	-	1	0	IGSF9B	133321289	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	7.684000	0.84104	2.544000	0.85801	0.655000	0.94253	GTG		0.627	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		T	133816079	C	T	133816079	3	4	660	1	0	0	0	0	1	0	0	0	7608	536	19	1	3982	1	IGSF9B	11	133816079	Missense_Mutation	SNP	C	TCGA-GL-7773-01A-11D-2136-08	20527232	133816079	1190437	67	35954											
CLEC1B	51266	hgsc.bcm.edu	37	12	10145838	10145838	+	Frame_Shift_Del	DEL	A	A	-			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr12:10145838delA	ENST00000298527.6	-	6	773	c.594delT	c.(592-594)tttfs	p.F198fs	CLEC1B_ENST00000348658.4_Frame_Shift_Del_p.F165fs|CLEC1B_ENST00000428126.2_Frame_Shift_Del_p.F165fs	NM_016509.3	NP_057593.3	Q9P126	CLC1B_HUMAN	C-type lectin domain family 1, member B	198	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|platelet formation (GO:0030220)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1)	19						TCCCATTATGAAAATAAGCAC	0.373																																																0													136	123	127					12																	10145838		1852	4085	5937	SO:0001589	frameshift_variant	51266			AF124841	CCDS41751.1, CCDS41752.1	12p13.31	2006-04-12				ENSG00000165682		"C-type lectin domain containing"	24356	protein-coding gene	gene with protein product		606783				10671229, 11745369	Standard	NM_016509		Approved	CLEC2	uc001qwu.3	Q9P126		ENST00000298527.6:c.594delT	chr12.hg19:g.10145838delA	ENSP00000298527:p.Phe198fs		Q6UWX7|Q8NHR6	Frame_Shift_Del	DEL	ENST00000298527.6	hg19	CCDS41752.1																																																																																				0.373	CLEC1B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399922.1	NM_016509		-	10145838	A	-	10145838	7	5	660	1	0	1	0	1	0	0	0	0	3508	243	9	0	99	0	CLEC1B	12	10145838	Frame_Shift_Del	DEL	A	TCGA-GL-7773-01A-11D-2136-08		10145838	123706057	68	35955											
KLRK1	22914	hgsc.bcm.edu	37	12	10541382	10541382	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr12:10541382G>A	ENST00000240618.6	-	2	168	c.28C>T	c.(28-30)Cga>Tga	p.R10*	KLRK1_ENST00000540818.1_Nonsense_Mutation_p.R10*|KLRC4-KLRK1_ENST00000539300.1_3'UTR|RP11-277P12.20_ENST00000500682.1_RNA	NM_001199805.1|NM_007360.3	NP_001186734.1|NP_031386.2	P26718	NKG2D_HUMAN	killer cell lectin-like receptor subfamily K, member 1	10					cell differentiation (GO:0030154)|innate immune response (GO:0045087)|natural killer cell activation (GO:0030101)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)	9						CAGCTGTGTCGAGACCTCCGA	0.388																																																0													101	92	95					12																	10541382		2203	4300	6503	SO:0001587	stop_gained	0			AJ001687	CCDS8623.1	12p13.2-p12.3	2010-02-17	2003-02-19		ENSG00000213809	ENSG00000213809		"Killer cell lectin-like receptors", "CD molecules"	18788	protein-coding gene	gene with protein product		611817	"DNA segment on chromosome 12 (unique) 2489 expressed sequence"	D12S2489E		9683661, 2007850	Standard	NM_007360		Approved	NKG2D, KLR, NKG2-D, CD314	uc009zhj.3	P26718	OTTHUMG00000168574	ENST00000240618.6:c.28C>T	chr12.hg19:g.10541382G>A	ENSP00000240618:p.Arg10*		A8K7K5|A8K7P4|Q9NR41	Nonsense_Mutation	SNP	ENST00000240618.6	hg19	CCDS8623.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.601701	0.87055	.	.	ENSG00000213809	ENST00000240618;ENST00000540818	.	.	.	3.92	2.04	0.26737	.	1.508560	0.03947	N	0.287889	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	4.7229	0.12927	0.1127:0.0:0.657:0.2303	.	.	.	.	X	10	.	ENSP00000240618:R10X	R	-	1	2	KLRK1	10432649	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	-0.084000	0.11268	0.589000	0.29677	0.637000	0.83480	CGA		0.388	KLRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400269.1	NM_007360		A	10541382	G	A	10541382	4	1	660	1	0	0	0	0	0	1	0	0	8425	1066	37	1	650	1	KLRK1	12	10541382	Nonsense_Mutation	SNP	G	TCGA-GL-7773-01A-11D-2136-08	395544	10541382	123310513	69	35956											
LRP6	4040	hgsc.bcm.edu	37	12	12318144	12318144	+	Missense_Mutation	SNP	T	T	A			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr12:12318144T>A	ENST00000261349.4	-	8	1707	c.1631A>T	c.(1630-1632)tAt>tTt	p.Y544F	LRP6_ENST00000543091.1_Missense_Mutation_p.Y544F	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	544	Beta-propeller 2.				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)				CCAGTAAACATAGTCACCCAA	0.433																																																0													149	150	150					12																	12318144		2203	4300	6503	SO:0001583	missense	4040			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.1631A>T	chr12.hg19:g.12318144T>A	ENSP00000261349:p.Tyr544Phe		Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	hg19	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	T	9.879	1.200963	0.22121	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.91295	-2.82;-2.82	4.98	3.81	0.43845	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.56097	D	0.000032	T	0.81767	0.4892	N	0.21583	0.68	0.51767	D	0.999935	B;B	0.06786	0.001;0.001	B;B	0.10450	0.001;0.005	T	0.71820	-0.4477	10	0.11794	T	0.64	.	11.3882	0.49798	0.1355:0.0:0.0:0.8645	.	544;544	F5H7J9;O75581	.;LRP6_HUMAN	F	544	ENSP00000261349:Y544F;ENSP00000442472:Y544F	ENSP00000261349:Y544F	Y	-	2	0	LRP6	12209411	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	1.571000	0.36450	0.834000	0.34852	0.377000	0.23210	TAT		0.433	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			A	12318144	T	A	12318144	3	1	660	1	0	0	0	0	1	0	0	0	8964	1406	49	5	3274	5	LRP6	12	12318144	Missense_Mutation	SNP	T	TCGA-GL-7773-01A-11D-2136-08	1776762	12318144	121533751	70	35957											
FAR2	55711	hgsc.bcm.edu	37	12	29469910	29469910	+	Nonsense_Mutation	SNP	T	T	A			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr12:29469910T>A	ENST00000536681.3	+	9	1338	c.1092T>A	c.(1090-1092)taT>taA	p.Y364*	FAR2_ENST00000547116.1_Nonsense_Mutation_p.Y267*|FAR2_ENST00000182377.4_Nonsense_Mutation_p.Y364*|RP11-996F15.2_ENST00000553105.1_RNA	NM_001271783.1|NM_001271784.1	NP_001258712.1|NP_001258713.1	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	364					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						CCATTATCTATGACTGCTATC	0.502																																																0													133	136	135					12																	29469910		2203	4300	6503	SO:0001587	stop_gained	55711			AL136843	CCDS8717.1, CCDS61084.1	12p11.23	2013-07-30	2008-06-06	2008-06-06	ENSG00000064763	ENSG00000064763	1.2.1.-	"Short chain dehydrogenase/reductase superfamily / Atypical members"	25531	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 10E, member 2"		"male sterility domain containing 1"	MLSTD1		15220348, 15220349, 19027726	Standard	NM_001271783		Approved	FLJ10462, SDR10E2	uc001ris.5	Q96K12	OTTHUMG00000169320	ENST00000536681.3:c.1092T>A	chr12.hg19:g.29469910T>A	ENSP00000443291:p.Tyr364*		F8VV73|Q9H0D5|Q9NVW8	Nonsense_Mutation	SNP	ENST00000536681.3	hg19	CCDS8717.1	.	.	.	.	.	.	.	.	.	.	T	38	7.075542	0.98048	.	.	ENSG00000064763	ENST00000536681;ENST00000182377;ENST00000547116	.	.	.	4.44	-3.57	0.04612	.	0.075218	0.56097	D	0.000033	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	-5.8079	11.3024	0.49314	0.0:0.5138:0.0:0.4862	.	.	.	.	X	364;364;267	.	ENSP00000182377:Y364X	Y	+	3	2	FAR2	29361177	0.039000	0.19947	0.980000	0.43619	0.940000	0.58332	-0.830000	0.04410	-0.596000	0.05821	0.383000	0.25322	TAT		0.502	FAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403479.2	NM_018099		A	29469910	T	A	29469910	4	1	660	1	0	0	0	0	0	1	0	0	5677	1471	51	5	1122	5	FAR2	12	29469910	Nonsense_Mutation	SNP	T	TCGA-GL-7773-01A-11D-2136-08	17151766	29469910	104381985	71	35958											
LRRK2	120892	hgsc.bcm.edu	37	12	40758851	40758851	+	Splice_Site	SNP	A	A	G			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr12:40758851A>G	ENST00000298910.7	+	49	7447	c.7389A>G	c.(7387-7389)ctA>ctG	p.L2463L		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2463					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)				CAGCACAGCTAGGCAAGTTTC	0.343																																																0													66	63	64					12																	40758851		2203	4298	6501	SO:0001630	splice_region_variant	120892			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.7390+1A>G	chr12.hg19:g.40758851A>G			A6NJU2|Q6ZS50|Q8NCX9	Silent	SNP	ENST00000298910.7	hg19	CCDS31774.1																																																																																				0.343	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513	Silent	G	40758851	A	G	40758851	5	3	660	1	0	0	0	0	0	0	1	0	9035	434	15	3	7583	3	LRRK2	12	40758851	Splice_Site	SNP	A	TCGA-GL-7773-01A-11D-2136-08	11288941	40758851	93093044	72	35959											
ANO6	196527	hgsc.bcm.edu	37	12	45803213	45803213	+	Missense_Mutation	SNP	G	G	T			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr12:45803213G>T	ENST00000320560.8	+	16	2156	c.1954G>T	c.(1954-1956)Gac>Tac	p.D652Y	ANO6_ENST00000441606.2_Missense_Mutation_p.D634Y|ANO6_ENST00000423947.3_Missense_Mutation_p.D673Y|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000425752.2_Missense_Mutation_p.D652Y|ANO6_ENST00000435642.1_Missense_Mutation_p.D652Y	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	652					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						ATGGGAACAGGACTACCATCT	0.353																																																0													124	124	124					12																	45803213		2203	4300	6503	SO:0001583	missense	196527			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.1954G>T	chr12.hg19:g.45803213G>T	ENSP00000320087:p.Asp652Tyr		A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Missense_Mutation	SNP	ENST00000320560.8	hg19	CCDS31782.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.754633	0.89843	.	.	ENSG00000177119	ENST00000425752;ENST00000423947;ENST00000435642;ENST00000320560;ENST00000441606	T;T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17;-0.17	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	D	0.83991	0.5374	M	0.91872	3.25	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.97110	1.0;0.999;1.0;0.995	D	0.87659	0.2533	10	0.87932	D	0	.	19.0047	0.92846	0.0:0.0:1.0:0.0	.	634;673;652;652	E9PB30;B9EGG0;E9PCT2;Q4KMQ2	.;.;.;ANO6_HUMAN	Y	652;673;652;652;634	ENSP00000391417:D652Y;ENSP00000409126:D673Y;ENSP00000413840:D652Y;ENSP00000320087:D652Y;ENSP00000413137:D634Y	ENSP00000320087:D652Y	D	+	1	0	ANO6	44089480	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.813000	0.99286	2.652000	0.90054	0.655000	0.94253	GAC		0.353	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404822.1	XM_113743		T	45803213	G	T	45803213	3	4	660	1	0	0	0	0	1	0	0	0	701	1174	41	4	2036	4	ANO6	12	45803213	Missense_Mutation	SNP	G	TCGA-GL-7773-01A-11D-2136-08	5044362	45803213	88048682	73	35960											
ATP7B	540	hgsc.bcm.edu	37	13	52548876	52548876	+	Silent	SNP	G	G	A			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr13:52548876G>A	ENST00000242839.4	-	2	636	c.480C>T	c.(478-480)tcC>tcT	p.S160S	ATP7B_ENST00000400366.3_Silent_p.S160S|ATP7B_ENST00000344297.5_Silent_p.S160S|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000542656.1_Silent_p.S128S|ATP7B_ENST00000400370.3_Silent_p.S160S|ATP7B_ENST00000418097.2_Silent_p.S160S|ATP7B_ENST00000448424.2_Silent_p.S160S	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	160	HMA 2. {ECO:0000255|PROSITE- ProRule:PRU00280}.				cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	TGCCTTCAATGGAGCTGACAC	0.562									Wilson disease																																							0													47	49	48					13																	52548876		2045	4186	6231	SO:0001819	synonymous_variant	540	Familial Cancer Database		U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"ATPases / P-type"	870	protein-coding gene	gene with protein product	"Wilson disease", "copper pump 2", "copper-transporting ATPase 2"	606882	"ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.480C>T	chr13.hg19:g.52548876G>A			Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Silent	SNP	ENST00000242839.4	hg19	CCDS41892.1																																																																																				0.562	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053		A	52548876	G	A	52548876	2	1	660	1	0	0	0	0	0	0	0	1	1191	1335	47	2		2	ATP7B	13	52548876	Silent	SNP	G	TCGA-GL-7773-01A-11D-2136-08		52548876	62621002	74	35961											
CDC16	8881	hgsc.bcm.edu	37	13	115022697	115022697	+	Missense_Mutation	SNP	G	G	T			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr13:115022697G>T	ENST00000356221.3	+	13	1350	c.1242G>T	c.(1240-1242)caG>caT	p.Q414H	CDC16_ENST00000252458.6_Intron|CDC16_ENST00000360383.3_Missense_Mutation_p.Q414H|CDC16_ENST00000252457.5_Missense_Mutation_p.Q413H|CDC16_ENST00000375308.1_Missense_Mutation_p.Q320H|CDC16_ENST00000375310.1_Missense_Mutation_p.Q320H|CDC16_ENST00000375312.3_Intron			Q13042	CDC16_HUMAN	cell division cycle 16	414					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)			TTGCATTTCAGAATGGAGAGT	0.438																																																0													121	114	116					13																	115022697		2203	4300	6503	SO:0001583	missense	8881			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.1242G>T	chr13.hg19:g.115022697G>T	ENSP00000348554:p.Gln414His		A2A365|Q5T8C8|Q96AE6|Q9Y564	Missense_Mutation	SNP	ENST00000356221.3	hg19	CCDS9542.2	.	.	.	.	.	.	.	.	.	.	G	12.89	2.074396	0.36566	.	.	ENSG00000130177	ENST00000360383;ENST00000356221;ENST00000375310;ENST00000252457;ENST00000375308	T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.52	5.94	-2.27	0.06846	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.064378	0.64402	D	0.000003	T	0.27866	0.0686	N	0.12182	0.205	0.80722	D	1	B;B	0.23540	0.018;0.087	B;B	0.11329	0.006;0.006	T	0.07328	-1.0778	9	.	.	.	-19.2092	13.2551	0.60074	0.6016:0.0:0.3984:0.0	.	413;414	Q13042-2;Q13042	.;CDC16_HUMAN	H	414;414;320;413;320	ENSP00000353549:Q414H;ENSP00000348554:Q414H;ENSP00000364459:Q320H;ENSP00000252457:Q413H;ENSP00000364457:Q320H	.	Q	+	3	2	CDC16	114040799	1.000000	0.71417	0.983000	0.44433	0.942000	0.58702	0.794000	0.26958	-0.384000	0.07845	-0.142000	0.14014	CAG		0.438	CDC16-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276737.1	NM_003903		T	115022697	G	T	115022697	3	4	660	1	0	0	0	0	1	0	0	0	3060	933	33	4	1292	4	CDC16	13	115022697	Missense_Mutation	SNP	G	TCGA-GL-7773-01A-11D-2136-08	62473821	115022697	147181	75	35962											
TINF2	26277	hgsc.bcm.edu	37	14	24709984	24709984	+	Silent	SNP	G	G	C	rs201135568		TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr14:24709984G>C	ENST00000267415.7	-	6	1043	c.702C>G	c.(700-702)gcC>gcG	p.A234A	TINF2_ENST00000558566.1_3'UTR|TINF2_ENST00000558510.1_5'Flank|TINF2_ENST00000540705.1_Silent_p.A199A|TINF2_ENST00000538777.1_Silent_p.A20A|TINF2_ENST00000559019.1_3'UTR|TINF2_ENST00000399423.4_Silent_p.A234A	NM_001099274.1	NP_001092744.1	Q9BSI4	TINF2_HUMAN	TERF1 (TRF1)-interacting nuclear factor 2	234					negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of protein ADP-ribosylation (GO:0010836)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of telomere maintenance (GO:0032206)|protein localization to chromosome (GO:0034502)|protein localization to chromosome, telomeric region (GO:0070198)|telomere assembly (GO:0032202)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)	chromosome, telomeric region (GO:0000781)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinucleolar chromocenter (GO:0010370)	telomeric DNA binding (GO:0042162)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0185)		TGCCAGGCTTGGCTTTTGGCA	0.552									Congenital Dyskeratosis;Ataxia Pancytopenia syndrome																																							0													149	144	146					14																	24709984		1996	4158	6154	SO:0001819	synonymous_variant	26277	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita;Myelocerebellar disorder	AF195512	CCDS41936.1, CCDS41937.1	14q12	2008-07-29				ENSG00000092330			11824	protein-coding gene	gene with protein product		604319				10581025, 18252230	Standard	NM_012461		Approved	TIN2	uc001woa.4	Q9BSI4		ENST00000267415.7:c.702C>G	chr14.hg19:g.24709984G>C			B3W5Q7|Q9H904|Q9UHC2	Silent	SNP	ENST00000267415.7	hg19	CCDS41936.1																																																																																				0.552	TINF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415406.2			C	24709984	G	C	24709984	2	2	660	1	0	0	0	0	0	0	0	1	15928	1335	47	4		4	TINF2	14	24709984	Silent	SNP	G	TCGA-GL-7773-01A-11D-2136-08		24709984	82639556	76	35963											
HSPA2	3306	hgsc.bcm.edu	37	14	65008125	65008125	+	Silent	SNP	G	G	A			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr14:65008125G>A	ENST00000394709.1	+	2	634	c.558G>A	c.(556-558)ctG>ctA	p.L186L	HSPA2_ENST00000247207.6_Silent_p.L186L|RP11-973N13.4_ENST00000554918.1_RNA|HSPA2_ENST00000554883.1_3'UTR			P54652	HSP72_HUMAN	heat shock 70kDa protein 2	186					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)		CCTACGGCCTGGACAAGAAGG	0.642																																					Pancreas(136;1211 1835 24894 31984 38227)											0													67	75	72					14																	65008125		2203	4300	6503	SO:0001819	synonymous_variant	3306			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.558G>A	chr14.hg19:g.65008125G>A			Q15508|Q53XM3|Q9UE78	Silent	SNP	ENST00000394709.1	hg19	CCDS9766.1																																																																																				0.642	HSPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280651.1			A	65008125	G	A	65008125	2	1	660	1	0	0	0	0	0	0	0	1	7413	1335	47	2		2	HSPA2	14	65008125	Silent	SNP	G	TCGA-GL-7773-01A-11D-2136-08	40298141	65008125	42341415	77	35964											
HSPA2	3306	hgsc.bcm.edu	37	14	65008173	65008173	+	Missense_Mutation	SNP	C	C	A			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr14:65008173C>A	ENST00000394709.1	+	2	682	c.606C>A	c.(604-606)gaC>gaA	p.D202E	HSPA2_ENST00000247207.6_Missense_Mutation_p.D202E|RP11-973N13.4_ENST00000554918.1_RNA|HSPA2_ENST00000554883.1_3'UTR			P54652	HSP72_HUMAN	heat shock 70kDa protein 2	202					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)		TCATCTTTGACCTGGGCGGTG	0.642																																					Pancreas(136;1211 1835 24894 31984 38227)											0													98	106	103					14																	65008173		2203	4300	6503	SO:0001583	missense	3306			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.606C>A	chr14.hg19:g.65008173C>A	ENSP00000378199:p.Asp202Glu		Q15508|Q53XM3|Q9UE78	Missense_Mutation	SNP	ENST00000394709.1	hg19	CCDS9766.1	.	.	.	.	.	.	.	.	.	.	C	19.26	3.793970	0.70452	.	.	ENSG00000126803	ENST00000394709;ENST00000247207	T;T	0.49720	0.77;0.77	5.22	5.22	0.72569	Heat shock protein 70, conserved site (1);	0.000000	0.56097	U	0.000034	D	0.87026	0.6075	H	0.99998	5.51	0.44736	D	0.997733	D	0.89917	1.0	D	0.91635	0.999	D	0.94368	0.7593	10	0.87932	D	0	-12.6764	18.774	0.91902	0.0:1.0:0.0:0.0	.	202	P54652	HSP72_HUMAN	E	202	ENSP00000378199:D202E;ENSP00000247207:D202E	ENSP00000247207:D202E	D	+	3	2	HSPA2	64077926	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.963000	0.56773	2.422000	0.82143	0.563000	0.77884	GAC		0.642	HSPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280651.1			A	65008173	C	A	65008173	3	1	660	1	0	0	0	0	1	0	0	0	7413	506	18	4	608	4	HSPA2	14	65008173	Missense_Mutation	SNP	C	TCGA-GL-7773-01A-11D-2136-08	48	65008173	42341367	78	35965											
ADAM20	8748	hgsc.bcm.edu	37	14	70991146	70991146	+	Missense_Mutation	SNP	T	T	C			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr14:70991146T>C	ENST00000256389.3	-	2	723	c.479A>G	c.(478-480)tAc>tGc	p.Y160C	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	110					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)		ACCATGGTAGTAGCAGTCATC	0.498																																																0													145	102	117					14																	70991146		2203	4300	6503	SO:0001583	missense	8748			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.479A>G	chr14.hg19:g.70991146T>C	ENSP00000256389:p.Tyr160Cys		Q6GTZ1|Q9UKJ9	Missense_Mutation	SNP	ENST00000256389.3	hg19	CCDS32111.1	.	.	.	.	.	.	.	.	.	.	T	10.77	1.444114	0.25987	.	.	ENSG00000134007	ENST00000256389	T	0.07444	3.19	4.14	1.61	0.23674	Peptidase M12B, propeptide (1);	0.000000	0.35555	N	0.003123	T	0.39600	0.1084	H	0.98133	4.155	0.26202	N	0.979437	D	0.89917	1.0	D	0.79108	0.992	T	0.41179	-0.9523	10	0.87932	D	0	.	9.3882	0.38356	0.4926:0.0:0.0:0.5074	.	110	O43506	ADA20_HUMAN	C	160	ENSP00000256389:Y160C	ENSP00000256389:Y160C	Y	-	2	0	ADAM20	70060899	1.000000	0.71417	0.998000	0.56505	0.115000	0.19883	1.990000	0.40717	0.202000	0.20498	-0.336000	0.08194	TAC		0.498	ADAM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395004.2			C	70991146	T	C	70991146	3	2	660	1	0	0	0	0	1	0	0	0	242	1638	57	3	1855	3	ADAM20	14	70991146	Missense_Mutation	SNP	T	TCGA-GL-7773-01A-11D-2136-08	5982973	70991146	36358394	79	35966											
C14orf174	161394	hgsc.bcm.edu	37	14	77844646	77844646	+	Silent	SNP	G	G	A			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr14:77844646G>A	ENST00000216471.4	+	1	1171	c.885G>A	c.(883-885)aaG>aaA	p.K295K	TMED8_ENST00000216468.7_5'Flank|SAMD15_ENST00000533095.2_Intron	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	295										breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TGCAAAGAAAGGCAACTGAGG	0.493																																																0													81	83	82					14																	77844646		2203	4300	6503	SO:0001819	synonymous_variant	161394			AK093282	CCDS32126.1	14q24.3	2013-01-10	2010-10-20	2010-10-20	ENSG00000100583	ENSG00000100583		"Sterile alpha motif (SAM) domain containing"	18631	protein-coding gene	gene with protein product			"family with sequence similarity 15, member A", "chromosome 14 open reading frame 174"	FAM15A, C14orf174			Standard	XM_006720069		Approved	FLJ35963	uc001xtq.1	Q9P1V8		ENST00000216471.4:c.885G>A	chr14.hg19:g.77844646G>A			Q2M3P3	Silent	SNP	ENST00000216471.4	hg19	CCDS32126.1																																																																																				0.493	SAMD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394587.2	NM_001010860		A	77844646	G	A	77844646	2	1	660	1	0	0	0	0	0	0	0	1	1761	991	35	2		2	C14orf174	14	77844646	Silent	SNP	G	TCGA-GL-7773-01A-11D-2136-08	6853500	77844646	29504894	80	35967											
NRXN3	9369	hgsc.bcm.edu	37	14	79423648	79423648	+	Missense_Mutation	SNP	G	G	A	rs367857290		TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr14:79423648G>A	ENST00000554719.1	+	8	1711	c.1220G>A	c.(1219-1221)cGg>cAg	p.R407Q	NRXN3_ENST00000335750.5_Missense_Mutation_p.R407Q	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	177					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)	p.R407P(1)		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)		CACACCGTTCGGGTGGTGCGG	0.473																																																1	Substitution - Missense(1)	lung(1)						G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	276	241	253		1220	3.8	1	14		253	0,8600		0,0,4300	no	missense	NRXN3	NM_004796.4	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	407/1062	79423648	1,13005	2203	4300	6503	SO:0001583	missense	9369			AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"chromosome 14 open reading frame 60"	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.1220G>A	chr14.hg19:g.79423648G>A	ENSP00000451648:p.Arg407Gln		A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000554719.1	hg19	CCDS9870.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.774869	0.90108	2.27E-4	0.0	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750	T;T	0.77877	-1.13;-1.13	5.64	3.82	0.43975	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.206569	0.42821	N	0.000657	D	0.86772	0.6013	.	.	.	0.54753	D	0.999982	D;D	0.89917	1.0;0.974	D;B	0.87578	0.998;0.406	D	0.86484	0.1793	8	.	.	.	.	12.5919	0.56447	0.135:0.0:0.865:0.0	.	780;407	Q9Y4C0;Q9Y4C0-3	NRX3A_HUMAN;.	Q	780;769;407;407	ENSP00000451648:R407Q;ENSP00000338349:R407Q	.	R	+	2	0	NRXN3	78493401	1.000000	0.71417	0.985000	0.45067	0.985000	0.73830	4.901000	0.63259	0.860000	0.35481	0.650000	0.86243	CGG		0.473	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	NM_001105250		A	79423648	G	A	79423648	3	1	660	1	0	0	0	0	1	0	0	0	10669	1116	39	1	1242	1	NRXN3	14	79423648	Missense_Mutation	SNP	G	TCGA-GL-7773-01A-11D-2136-08	1579002	79423648	27925892	81	35968											
C14orf49	161176	hgsc.bcm.edu	37	14	95903278	95903278	+	Missense_Mutation	SNP	A	A	G			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr14:95903278A>G	ENST00000334258.5	-	14	2431	c.2417T>C	c.(2416-2418)tTc>tCc	p.F806S	SYNE3_ENST00000554873.1_Missense_Mutation_p.F563S|SYNE3_ENST00000557275.1_Missense_Mutation_p.F801S	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	806					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						GAGCTGGGAGAAATCTTCATG	0.517																																																0													100	96	97					14																	95903278		2203	4300	6503	SO:0001583	missense	161176			AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"chromosome 14 open reading frame 49"	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.2417T>C	chr14.hg19:g.95903278A>G	ENSP00000334308:p.Phe806Ser		A6H8H3|Q86SX5|Q8N7G8	Missense_Mutation	SNP	ENST00000334258.5	hg19	CCDS9935.1	.	.	.	.	.	.	.	.	.	.	A	12.57	1.978684	0.34942	.	.	ENSG00000176438	ENST00000334258;ENST00000554873;ENST00000557275	T;T;T	0.15372	3.48;2.43;3.5	5.13	-6.79	0.01715	.	1.951040	0.02897	N	0.134895	T	0.13157	0.0319	M	0.62723	1.935	0.09310	N	1	B;B	0.22211	0.066;0.04	B;B	0.17979	0.02;0.01	T	0.23226	-1.0194	10	0.23891	T	0.37	-0.2886	0.1537	0.00096	0.2263:0.2228:0.217:0.3339	.	801;806	Q6ZMZ3-2;Q6ZMZ3	.;SYNE3_HUMAN	S	806;563;801	ENSP00000334308:F806S;ENSP00000452154:F563S;ENSP00000450562:F801S	ENSP00000334308:F806S	F	-	2	0	C14orf49	94973031	0.011000	0.17503	0.000000	0.03702	0.134000	0.20937	0.178000	0.16820	-1.516000	0.01782	0.459000	0.35465	TTC		0.517	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592		G	95903278	A	G	95903278	3	3	660	1	0	0	0	0	1	0	0	0	1778	246	9	3	526	3	C14orf49	14	95903278	Missense_Mutation	SNP	A	TCGA-GL-7773-01A-11D-2136-08	16479630	95903278	11446262	82	35969											
BEGAIN	57596	hgsc.bcm.edu	37	14	101012903	101012903	+	Silent	SNP	G	G	A			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr14:101012903G>A	ENST00000355173.2	-	3	182	c.111C>T	c.(109-111)caC>caT	p.H37H	BEGAIN_ENST00000443071.2_Silent_p.H37H|BEGAIN_ENST00000554747.1_5'UTR|BEGAIN_ENST00000556751.1_5'UTR	NM_020836.3	NP_065887.1	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	37						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)				TCTCCAGGTAGTGGCGCGTGG	0.692																																					NSCLC(159;1889 2010 9965 27479 40101)											0													74	69	71					14																	101012903		2203	4300	6503	SO:0001819	synonymous_variant	57596			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.111C>T	chr14.hg19:g.101012903G>A			Q9NPU3|Q9P282	Silent	SNP	ENST00000355173.2	hg19	CCDS9962.1																																																																																				0.692	BEGAIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414329.1	NM_020836		A	101012903	G	A	101012903	2	1	660	1	0	0	0	0	0	0	0	1	1397	1020	36	2		2	BEGAIN	14	101012903	Silent	SNP	G	TCGA-GL-7773-01A-11D-2136-08	5109625	101012903	6336637	83	35970											
AHNAK2	113146	hgsc.bcm.edu	37	14	105408067	105408067	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr14:105408067delT	ENST00000333244.5	-	7	13840	c.13721delA	c.(13720-13722)gacfs	p.D4574fs	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4574						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)			GCCTTTCAGGTCCAGCTTGGG	0.627																																																0													124	134	131					14																	105408067		1916	4122	6038	SO:0001589	frameshift_variant	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.13721delA	chr14.hg19:g.105408067delT	ENSP00000353114:p.Asp4574fs		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Frame_Shift_Del	DEL	ENST00000333244.5	hg19	CCDS45177.1																																																																																				0.627	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		-	105408067	T	-	105408067	7	5	660	1	0	1	0	1	0	0	0	0	415	1667	58	0	3670	0	AHNAK2	14	105408067	Frame_Shift_Del	DEL	T	TCGA-GL-7773-01A-11D-2136-08	4395164	105408067	1941473	84	35971											
HERC2	8924	hgsc.bcm.edu	37	15	28431846	28431846	+	Missense_Mutation	SNP	T	T	A			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr15:28431846T>A	ENST00000261609.7	-	56	8810	c.8702A>T	c.(8701-8703)gAt>gTt	p.D2901V		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)		GATTTTACAATCGATTCCTGA	0.423																																																0													84	74	77					15																	28431846		2203	4300	6503	SO:0001583	missense	8924			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.8702A>T	chr15.hg19:g.28431846T>A	ENSP00000261609:p.Asp2901Val			Missense_Mutation	SNP	ENST00000261609.7	hg19	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.315805	0.81469	.	.	ENSG00000128731	ENST00000261609	T	0.70164	-0.46	5.0	5.0	0.66597	Anaphase-promoting complex, subunit 10/DOC domain (1);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.81721	0.4882	M	0.77103	2.36	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.84597	0.0670	10	0.87932	D	0	.	15.0231	0.71647	0.0:0.0:0.0:1.0	.	2901	O95714	HERC2_HUMAN	V	2901	ENSP00000261609:D2901V	ENSP00000261609:D2901V	D	-	2	0	HERC2	26105441	1.000000	0.71417	0.496000	0.27539	0.859000	0.49053	7.997000	0.88414	2.000000	0.58554	0.528000	0.53228	GAT		0.423	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		A	28431846	T	A	28431846	3	1	660	1	0	0	0	0	1	0	0	0	7060	1435	50	5	5954	5	HERC2	15	28431846	Missense_Mutation	SNP	T	TCGA-GL-7773-01A-11D-2136-08		28431846	74099546	85	35972											
ZNF770	54989	hgsc.bcm.edu	37	15	35274327	35274327	+	Missense_Mutation	SNP	T	T	C			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr15:35274327T>C	ENST00000356321.4	-	3	1653	c.1309A>G	c.(1309-1311)Aag>Gag	p.K437E		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	437					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)		AAGTCTTTCTTATTCACTGAA	0.348																																																0													82	84	83					15																	35274327		2201	4297	6498	SO:0001583	missense	54989			BC071603	CCDS10042.1	15q14	2013-01-08			ENSG00000198146	ENSG00000198146		"Zinc fingers, C2H2-type"	26061	protein-coding gene	gene with protein product							Standard	NM_014106		Approved	FLJ20582, PRO1914	uc001ziw.3	Q6IQ21	OTTHUMG00000129689	ENST00000356321.4:c.1309A>G	chr15.hg19:g.35274327T>C	ENSP00000348673:p.Lys437Glu		Q6ZMZ6|Q9NWV2	Missense_Mutation	SNP	ENST00000356321.4	hg19	CCDS10042.1	.	.	.	.	.	.	.	.	.	.	T	4.829	0.154043	0.09185	.	.	ENSG00000198146	ENST00000356321	T	0.09073	3.02	5.49	5.49	0.81192	.	0.394233	0.25414	N	0.030860	T	0.07052	0.0179	N	0.14661	0.345	0.22996	N	0.998451	B	0.23937	0.094	B	0.22386	0.039	T	0.31194	-0.9952	10	0.87932	D	0	-3.5887	15.7623	0.78096	0.0:0.0:0.0:1.0	.	437	Q6IQ21	ZN770_HUMAN	E	437	ENSP00000348673:K437E	ENSP00000348673:K437E	K	-	1	0	ZNF770	33061619	1.000000	0.71417	0.997000	0.53966	0.123000	0.20343	3.570000	0.53834	2.311000	0.77944	0.533000	0.62120	AAG		0.348	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251896.2	NM_014106		C	35274327	T	C	35274327	3	2	660	1	0	0	0	0	1	0	0	0	18148	1763	61	3	770	3	ZNF770	15	35274327	Missense_Mutation	SNP	T	TCGA-GL-7773-01A-11D-2136-08	6842481	35274327	67257065	86	35973											
BAHD1	22893	hgsc.bcm.edu	37	15	40758294	40758294	+	Missense_Mutation	SNP	T	T	C			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr15:40758294T>C	ENST00000416165.1	+	7	2379	c.2308T>C	c.(2308-2310)Ttc>Ctc	p.F770L	BAHD1_ENST00000561234.1_Missense_Mutation_p.F769L|RP11-64K12.8_ENST00000559730.1_RNA|BAHD1_ENST00000560846.1_Missense_Mutation_p.F767L	NM_014952.3	NP_055767.3	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	770	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				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)		TGTCTATGACTTCCGCCACGG	0.632																																																0													98	101	100					15																	40758294		2203	4300	6503	SO:0001583	missense	22893			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.2308T>C	chr15.hg19:g.40758294T>C	ENSP00000396976:p.Phe770Leu		Q8NDF7|Q9Y2F4	Missense_Mutation	SNP	ENST00000416165.1	hg19	CCDS10058.1	.	.	.	.	.	.	.	.	.	.	T	29.4	5.000543	0.93227	.	.	ENSG00000140320	ENST00000416165	D	0.85339	-1.97	5.6	5.6	0.85130	Bromo adjacent homology (BAH) domain (3);	0.000000	0.85682	D	0.000000	D	0.91965	0.7455	M	0.76328	2.33	0.80722	D	1	D;D;D	0.89917	0.996;1.0;1.0	D;D;D	0.87578	0.917;0.998;0.997	D	0.92808	0.6262	10	0.72032	D	0.01	-16.7549	15.7888	0.78332	0.0:0.0:0.0:1.0	.	767;770;769	Q8TBE0-3;Q8TBE0;Q8TBE0-2	.;BAHD1_HUMAN;.	L	770	ENSP00000396976:F770L	ENSP00000396976:F770L	F	+	1	0	BAHD1	38545586	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.040000	0.89188	2.144000	0.66660	0.460000	0.39030	TTC		0.632	BAHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252248.1	NM_014952		C	40758294	T	C	40758294	3	2	660	1	0	0	0	0	1	0	0	0	1297	1609	56	3	2330	3	BAHD1	15	40758294	Missense_Mutation	SNP	T	TCGA-GL-7773-01A-11D-2136-08	5483967	40758294	61773098	87	35974											
MYO5C	55930	hgsc.bcm.edu	37	15	52498142	52498142	+	Missense_Mutation	SNP	G	G	T			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr15:52498142G>T	ENST00000261839.7	-	37	4569	c.4408C>A	c.(4408-4410)Cca>Aca	p.P1470T	RP11-430B1.2_ENST00000560518.1_lincRNA	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1470	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.					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)		TTCTGCTGTGGACTATTATGC	0.269																																																0													57	49	52					15																	52498142		1789	4055	5844	SO:0001583	missense	55930			AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"Myosins / Myosin superfamily : Class V"	7604	protein-coding gene	gene with protein product	"myosin 5C"	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.4408C>A	chr15.hg19:g.52498142G>T	ENSP00000261839:p.Pro1470Thr		Q6P1W8	Missense_Mutation	SNP	ENST00000261839.7	hg19	CCDS42036.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.494477	0.64186	.	.	ENSG00000128833	ENST00000261839	T	0.16897	2.31	5.21	4.27	0.50696	Dilute (1);	0.061993	0.64402	D	0.000004	T	0.32010	0.0815	M	0.72118	2.19	0.80722	D	1	D	0.56035	0.974	P	0.52957	0.714	T	0.09228	-1.0684	10	0.33940	T	0.23	.	15.7715	0.78173	0.0:0.1365:0.8635:0.0	.	1470	Q9NQX4	MYO5C_HUMAN	T	1470	ENSP00000261839:P1470T	ENSP00000261839:P1470T	P	-	1	0	MYO5C	50285434	1.000000	0.71417	0.959000	0.39883	0.903000	0.53119	3.298000	0.51818	1.376000	0.46267	0.555000	0.69702	CCA		0.269	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728		T	52498142	G	T	52498142	3	4	660	1	0	0	0	0	1	0	0	0	10082	1174	41	4	840	4	MYO5C	15	52498142	Missense_Mutation	SNP	G	TCGA-GL-7773-01A-11D-2136-08	11739848	52498142	50033250	88	35975											
PML	5371	hgsc.bcm.edu	37	15	74327953	74327953	+	Intron	SNP	G	G	A			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr15:74327953G>A	ENST00000268058.3	+	7	1806				PML_ENST00000359928.4_Intron|PML_ENST00000435786.2_3'UTR|PML_ENST00000436891.3_3'UTR|PML_ENST00000569965.1_Intron|PML_ENST00000395135.3_Intron|PML_ENST00000395132.2_Intron|PML_ENST00000354026.6_Silent_p.R669R|PML_ENST00000268059.6_Silent_p.R717R|PML_ENST00000563500.1_3'UTR|PML_ENST00000564428.1_Intron|PML_ENST00000565898.1_Intron	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						AGCTGCAAAGGGGCATCAGCC	0.622			T	"RARA, PAX5"	"APL, ALL"																																		Dom	yes		15	15q22	5371	promyelocytic leukemia		L	0													64	63	64					15																	74327953		2198	4297	6495	SO:0001627	intron_variant	5371			AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.1710+1082G>A	chr15.hg19:g.74327953G>A			E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Silent	SNP	ENST00000268058.3	hg19	CCDS10255.1																																																																																				0.622	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269021.3	NM_002675		A	74327953	G	A	74327953	1	1	660	0	1	0	0	0	0	0	0	0	12137	1223	43	2		2	PML	15	74327953	Intron	SNP	G	TCGA-GL-7773-01A-11D-2136-08	21829811	74327953	28203439	89	35976											
AXIN1	8312	hgsc.bcm.edu	37	16	338194	338194	+	Missense_Mutation	SNP	C	C	A			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr16:338194C>A	ENST00000262320.3	-	11	2888	c.2517G>T	c.(2515-2517)gaG>gaT	p.E839D	AXIN1_ENST00000354866.3_Missense_Mutation_p.E803D	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	839	DIX. {ECO:0000255|PROSITE- ProRule:PRU00069}.				activation of JUN kinase activity (GO:0007257)|activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|axial mesoderm formation (GO:0048320)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060823)|cell death (GO:0008219)|cellular protein complex assembly (GO:0043623)|cellular response to organic cyclic compound (GO:0071407)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|dorsal/ventral axis specification (GO:0009950)|embryonic eye morphogenesis (GO:0048048)|embryonic skeletal joint morphogenesis (GO:0060272)|forebrain anterior/posterior pattern specification (GO:0021797)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein metabolic process (GO:0051248)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|olfactory placode formation (GO:0030910)|optic placode formation (GO:0001743)|positive regulation of GTPase activity (GO:0043547)|positive regulation of JNK cascade (GO:0046330)|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 catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|post-anal tail morphogenesis (GO:0036342)|protein catabolic process (GO:0030163)|protein homooligomerization (GO:0051260)|protein polyubiquitination (GO:0000209)|regulation of catenin import into nucleus (GO:0035412)|sensory perception of sound (GO:0007605)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)|Wnt-activated signaling pathway involved in forebrain neuron fate commitment (GO:0021881)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|ubiquitin protein ligase binding (GO:0031625)			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CCTCTCGAACCTCCTCAAACA	0.587																																																0													233	174	194					16																	338194		2203	4300	6503	SO:0001583	missense	8312			AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	903	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 49"	603816				9230313	Standard	NM_003502		Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.2517G>T	chr16.hg19:g.338194C>A	ENSP00000262320:p.Glu839Asp		Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Missense_Mutation	SNP	ENST00000262320.3	hg19	CCDS10405.1	.	.	.	.	.	.	.	.	.	.	c	14.73	2.621324	0.46736	.	.	ENSG00000103126	ENST00000262320;ENST00000354866	T;T	0.61274	0.12;0.12	4.62	-0.702	0.11265	DIX (3);	0.000000	0.85682	D	0.000000	T	0.73528	0.3598	M	0.89534	3.04	0.50171	D	0.999859	D;D	0.89917	0.999;1.0	D;D	0.91635	0.998;0.999	T	0.70432	-0.4873	10	0.72032	D	0.01	-11.9016	5.4595	0.16610	0.1225:0.5288:0.0:0.3487	.	803;839	O15169-2;O15169	.;AXIN1_HUMAN	D	839;803	ENSP00000262320:E839D;ENSP00000346935:E803D	ENSP00000262320:E839D	E	-	3	2	AXIN1	278195	0.998000	0.40836	0.424000	0.26647	0.122000	0.20287	0.667000	0.25112	-0.105000	0.12132	-0.224000	0.12420	GAG		0.587	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139441.3			A	338194	C	A	338194	3	1	660	1	0	0	0	0	1	0	0	0	1236	680	24	4	75	4	AXIN1	16	338194	Missense_Mutation	SNP	C	TCGA-GL-7773-01A-11D-2136-08		338194	90016559	90	35977											
GLYR1	84656	hgsc.bcm.edu	37	16	4864623	4864623	+	Missense_Mutation	SNP	G	G	C			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr16:4864623G>C	ENST00000321919.9	-	11	1008	c.932C>G	c.(931-933)gCc>gGc	p.A311G	GLYR1_ENST00000436648.5_Missense_Mutation_p.A230G|GLYR1_ENST00000591451.1_Missense_Mutation_p.A305G|GLYR1_ENST00000381983.3_Missense_Mutation_p.A294G	NM_032569.3	NP_115958	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	311					pentose-phosphate shunt (GO:0006098)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						TCCCAGACGGGCCCCCTCCTG	0.577																																																0													42	41	41					16																	4864623		2197	4300	6497	SO:0001583	missense	84656			AF244907	CCDS10524.1	16p13.3	2010-02-17			ENSG00000140632	ENSG00000140632			24434	protein-coding gene	gene with protein product	"nuclear protein 60kDa"	610660				16352664	Standard	NM_032569		Approved	BM045, HIBDL, NP60, N-PAC	uc002cxx.4	Q49A26	OTTHUMG00000129530	ENST00000321919.9:c.932C>G	chr16.hg19:g.4864623G>C	ENSP00000322716:p.Ala311Gly		B4DL47|C9JJ40|C9JJ60|Q5U632|Q6P1Q2|Q6V3W7|Q9BTI1|Q9BXK2	Missense_Mutation	SNP	ENST00000321919.9	hg19	CCDS10524.1	.	.	.	.	.	.	.	.	.	.	G	32	5.124490	0.94429	.	.	ENSG00000140632	ENST00000321919;ENST00000381983;ENST00000436648	T;T;T	0.73789	-0.49;-0.48;-0.78	5.33	5.33	0.75918	6-phosphogluconate dehydrogenase, NADP-binding (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.86887	0.6041	M	0.79926	2.475	0.80722	D	1	B;P;B;D	0.58620	0.262;0.512;0.173;0.983	B;P;B;D	0.79784	0.418;0.548;0.341;0.993	D	0.86708	0.1934	10	0.46703	T	0.11	-16.0047	18.1572	0.89696	0.0:0.0:1.0:0.0	.	230;305;294;311	Q49A26-5;Q49A26-3;Q49A26-2;Q49A26	.;.;.;GLYR1_HUMAN	G	311;294;230	ENSP00000322716:A311G;ENSP00000371413:A294G;ENSP00000390276:A230G	ENSP00000322716:A311G	A	-	2	0	GLYR1	4804624	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.422000	0.97458	2.654000	0.90174	0.561000	0.74099	GCC		0.577	GLYR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251717.2	NM_032569		C	4864623	G	C	4864623	3	2	660	1	0	0	0	0	1	0	0	0	6485	1203	42	4	753	4	GLYR1	16	4864623	Missense_Mutation	SNP	G	TCGA-GL-7773-01A-11D-2136-08	4526429	4864623	85490130	91	35978											
NTAN1	123803	hgsc.bcm.edu	37	16	15133833	15133833	+	Missense_Mutation	SNP	C	C	G			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr16:15133833C>G	ENST00000287706.3	-	8	724	c.632G>C	c.(631-633)gGa>gCa	p.G211A	PDXDC1_ENST00000535621.2_Intron	NM_001270766.1|NM_173474.3	NP_001257695.1|NP_775745.1	Q96AB6	NTAN1_HUMAN	N-terminal asparagine amidase	211					adult locomotory behavior (GO:0008344)|memory (GO:0007613)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein-N-terminal asparagine amidohydrolase activity (GO:0008418)			endometrium(1)|large_intestine(4)|lung(3)	8						CACTGGTCCTCCTGCTAAAGT	0.433																																																0													112	122	119					16																	15133833		2197	4300	6497	SO:0001583	missense	123803			AF092440	CCDS10558.1, CCDS73832.1	16p13	2008-02-05			ENSG00000157045	ENSG00000157045			29909	protein-coding gene	gene with protein product		615367				8910481	Standard	NM_173474		Approved		uc002ddd.4	Q96AB6	OTTHUMG00000129849	ENST00000287706.3:c.632G>C	chr16.hg19:g.15133833C>G	ENSP00000287706:p.Gly211Ala		Q7Z4Z0	Missense_Mutation	SNP	ENST00000287706.3	hg19	CCDS10558.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.344058	0.82022	.	.	ENSG00000157045	ENST00000287706	T	0.29655	1.56	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.62417	0.2426	M	0.85041	2.73	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.67369	-0.5688	10	0.72032	D	0.01	-20.0269	18.5814	0.91172	0.0:1.0:0.0:0.0	.	211	Q96AB6	NTAN1_HUMAN	A	211	ENSP00000287706:G211A	ENSP00000287706:G211A	G	-	2	0	NTAN1	15041334	1.000000	0.71417	0.987000	0.45799	0.810000	0.45777	5.601000	0.67606	2.630000	0.89119	0.650000	0.86243	GGA		0.433	NTAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252089.1	NM_173474		G	15133833	C	G	15133833	3	3	660	1	0	0	0	0	1	0	0	0	10697	855	30	4	312	4	NTAN1	16	15133833	Missense_Mutation	SNP	C	TCGA-GL-7773-01A-11D-2136-08	10269210	15133833	75220920	92	35979											
XPO6	23214	hgsc.bcm.edu	37	16	28181133	28181133	+	Missense_Mutation	SNP	C	C	A	rs558020059		TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr16:28181133C>A	ENST00000304658.5	-	5	1003	c.503G>T	c.(502-504)cGg>cTg	p.R168L	XPO6_ENST00000565698.1_Missense_Mutation_p.R154L	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	168					protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						CTCCTCCTTCCGAGCCACACT	0.572																																																0													59	62	61					16																	28181133		2001	4169	6170	SO:0001583	missense	23214			AY026388	CCDS42135.1, CCDS59266.1	16p11.2	2011-04-13	2003-03-11	2003-03-14		ENSG00000169180		"Exportins"	19733	protein-coding gene	gene with protein product		608411	"RAN binding protein 20"	RANBP20		14592989	Standard	NM_001270940		Approved	KIAA0370, FLJ22519	uc002dpa.2	Q96QU8		ENST00000304658.5:c.503G>T	chr16.hg19:g.28181133C>A	ENSP00000302790:p.Arg168Leu		A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Missense_Mutation	SNP	ENST00000304658.5	hg19	CCDS42135.1	.	.	.	.	.	.	.	.	.	.	C	36	5.708014	0.96821	.	.	ENSG00000169180	ENST00000304658	T	0.54071	0.59	5.75	5.75	0.90469	Exportin-1/Importin-beta-like (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.72740	0.3498	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.995	T	0.74754	-0.3558	10	0.87932	D	0	-19.7624	17.4387	0.87559	0.0:1.0:0.0:0.0	.	168;168	B7ZM10;Q96QU8	.;XPO6_HUMAN	L	168	ENSP00000302790:R168L	ENSP00000302790:R168L	R	-	2	0	XPO6	28088634	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.792000	0.85828	2.696000	0.92011	0.655000	0.94253	CGG		0.572	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433732.1	XM_055195		A	28181133	C	A	28181133	3	1	660	1	0	0	0	0	1	0	0	0	17453	652	23	4	2954	4	XPO6	16	28181133	Missense_Mutation	SNP	C	TCGA-GL-7773-01A-11D-2136-08	13047300	28181133	62173620	93	35980											
SH2B1	25970	hgsc.bcm.edu	37	16	28880661	28880661	+	Missense_Mutation	SNP	C	C	A			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr16:28880661C>A	ENST00000322610.8	+	7	1705	c.1266C>A	c.(1264-1266)gaC>gaA	p.D422E	SH2B1_ENST00000545570.1_Missense_Mutation_p.D112E|SH2B1_ENST00000337120.5_Missense_Mutation_p.D422E|SH2B1_ENST00000395532.4_Missense_Mutation_p.D422E|SH2B1_ENST00000359285.5_Missense_Mutation_p.D422E|SH2B1_ENST00000538342.1_Missense_Mutation_p.D86E|SH2B1_ENST00000563674.1_Intron			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	422	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation). {ECO:0000250}.				blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						CCAGCCAGGACCTGCTGCTTG	0.632																																																0													50	48	48					16																	28880661		2197	4300	6497	SO:0001583	missense	25970			AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14						"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	30417	protein-coding gene	gene with protein product	"SH2-B homolog"	608937				11827956, 10594240	Standard	NM_001145812		Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2		ENST00000322610.8:c.1266C>A	chr16.hg19:g.28880661C>A	ENSP00000321221:p.Asp422Glu		A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Missense_Mutation	SNP	ENST00000322610.8	hg19	CCDS53996.1	.	.	.	.	.	.	.	.	.	.	C	10.69	1.420802	0.25639	.	.	ENSG00000178188	ENST00000322610;ENST00000545570;ENST00000359285;ENST00000538342;ENST00000395532;ENST00000337120	T;T;T;T;T;T	0.42131	0.98;1.71;1.01;1.6;1.0;1.0	5.17	-9.53	0.00575	.	0.393219	0.23983	N	0.042660	T	0.11836	0.0288	N	0.03608	-0.345	0.22112	N	0.999357	B;B;B;B;B	0.06786	0.0;0.0;0.0;0.001;0.0	B;B;B;B;B	0.06405	0.0;0.001;0.001;0.002;0.001	T	0.09207	-1.0685	10	0.27082	T	0.32	-14.1712	6.2599	0.20893	0.0853:0.4877:0.1844:0.2426	.	86;112;422;422;422	B4DLN5;F5GXU7;Q9NRF2-2;Q9NRF2-3;Q9NRF2	.;.;.;.;SH2B1_HUMAN	E	422;112;422;86;422;422	ENSP00000321221:D422E;ENSP00000440354:D112E;ENSP00000352232:D422E;ENSP00000438784:D86E;ENSP00000378903:D422E;ENSP00000337163:D422E	ENSP00000321221:D422E	D	+	3	2	SH2B1	28788162	0.011000	0.17503	0.821000	0.32701	0.889000	0.51656	-2.120000	0.01323	-1.453000	0.01928	-0.373000	0.07131	GAC		0.632	SH2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432666.1	NM_015503		A	28880661	C	A	28880661	3	1	660	1	0	0	0	0	1	0	0	0	14233	506	18	4	1280	4	SH2B1	16	28880661	Missense_Mutation	SNP	C	TCGA-GL-7773-01A-11D-2136-08	699528	28880661	61474092	94	35981											
RABEP2	79874	hgsc.bcm.edu	37	16	28925762	28925762	+	Missense_Mutation	SNP	T	T	A			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr16:28925762T>A	ENST00000358201.4	-	5	1277	c.689A>T	c.(688-690)gAc>gTc	p.D230V	RABEP2_ENST00000561803.1_5'Flank|RABEP2_ENST00000357573.6_Missense_Mutation_p.D230V|RABEP2_ENST00000544477.1_Missense_Mutation_p.D159V	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	230					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						GGAGGCGCTGTCATCGCAGTT	0.682																																					Pancreas(66;639 1284 10093 31061 49099)											0													24	30	28					16																	28925762		2041	4205	6246	SO:0001583	missense	79874			AK026935	CCDS42140.1	16p11.2	2014-09-11			ENSG00000177548	ENSG00000177548			24817	protein-coding gene	gene with protein product		611869				12477932	Standard	NM_024816		Approved	FRA, FLJ23282	uc002drq.3	Q9H5N1	OTTHUMG00000176593	ENST00000358201.4:c.689A>T	chr16.hg19:g.28925762T>A	ENSP00000350934:p.Asp230Val			Missense_Mutation	SNP	ENST00000358201.4	hg19	CCDS42140.1	.	.	.	.	.	.	.	.	.	.	T	19.65	3.867523	0.72065	.	.	ENSG00000177548	ENST00000358201;ENST00000357573;ENST00000544477	T;T;T	0.70516	-0.33;-0.49;-0.27	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.74906	0.3778	L	0.29908	0.895	0.53005	D	0.999965	D;D;D;D	0.89917	0.999;1.0;0.998;0.999	D;D;D;D	0.87578	0.996;0.998;0.994;0.996	T	0.77653	-0.2507	10	0.87932	D	0	-35.9958	11.3244	0.49440	0.0:0.0:0.0:1.0	.	159;230;230;230	B4DHR0;Q9H5N1-2;Q49AT6;Q9H5N1	.;.;.;RABE2_HUMAN	V	230;230;159	ENSP00000350934:D230V;ENSP00000350186:D230V;ENSP00000442798:D159V	ENSP00000350186:D230V	D	-	2	0	RABEP2	28833263	1.000000	0.71417	0.997000	0.53966	0.848000	0.48234	5.481000	0.66826	1.933000	0.56026	0.379000	0.24179	GAC		0.682	RABEP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432691.1	NM_024816		A	28925762	T	A	28925762	3	1	660	1	0	0	0	0	1	0	0	0	12968	1667	58	5	1056	5	RABEP2	16	28925762	Missense_Mutation	SNP	T	TCGA-GL-7773-01A-11D-2136-08	45101	28925762	61428991	95	35982											
RNF40	9810	hgsc.bcm.edu	37	16	30775599	30775599	+	Missense_Mutation	SNP	T	T	C			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr16:30775599T>C	ENST00000324685.6	+	5	977	c.542T>C	c.(541-543)cTg>cCg	p.L181P	C16orf93_ENST00000545825.1_5'Flank|C16orf93_ENST00000543610.1_5'Flank|RNF40_ENST00000563683.1_Missense_Mutation_p.L181P|C16orf93_ENST00000541260.1_5'Flank|RNF40_ENST00000357890.5_Missense_Mutation_p.L181P|RNF40_ENST00000402121.3_Intron	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	181					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			GAGCTGGAGCTGCAAGGCCGA	0.632																																																0													69	56	60					16																	30775599		2197	4300	6497	SO:0001583	missense	9810			AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"RING-type (C3HC4) zinc fingers"	16867	protein-coding gene	gene with protein product	"BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"	607700	"ring finger protein 40"			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.542T>C	chr16.hg19:g.30775599T>C	ENSP00000325677:p.Leu181Pro		Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Missense_Mutation	SNP	ENST00000324685.6	hg19	CCDS10691.1	.	.	.	.	.	.	.	.	.	.	T	17.57	3.423101	0.62733	.	.	ENSG00000103549	ENST00000324685;ENST00000357890;ENST00000452273	T;T	0.60920	0.76;0.15	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000001	T	0.78349	0.4269	M	0.82323	2.585	0.80722	D	1	D;B;B	0.76494	0.999;0.09;0.024	D;B;B	0.85130	0.997;0.06;0.038	T	0.81540	-0.0886	10	0.87932	D	0	-13.9353	15.6114	0.76721	0.0:0.0:0.0:1.0	.	181;181;181	O75150-4;A8K6K1;O75150	.;.;BRE1B_HUMAN	P	181;181;30	ENSP00000325677:L181P;ENSP00000350563:L181P	ENSP00000325677:L181P	L	+	2	0	RNF40	30683100	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	6.959000	0.76031	2.326000	0.78906	0.533000	0.62120	CTG		0.632	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255524.2	NM_014771		C	30775599	T	C	30775599	3	2	660	1	0	0	0	0	1	0	0	0	13499	1580	55	3	556	3	RNF40	16	30775599	Missense_Mutation	SNP	T	TCGA-GL-7773-01A-11D-2136-08	1849837	30775599	59579154	96	35983											
ITGAM	3684	hgsc.bcm.edu	37	16	31340556	31340556	+	Missense_Mutation	SNP	G	G	T	rs199790913		TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr16:31340556G>T	ENST00000287497.8	+	24	2875	c.2800G>T	c.(2800-2802)Gtc>Ttc	p.V934F	ITGAM_ENST00000544665.3_Missense_Mutation_p.V935F			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	934					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						CAGCCATGGGGTCTCCACTAA	0.542																																																0								G	PHE/VAL,PHE/VAL	0,3888		0,0,1944	71	70	70		2803,2800	-6.6	0	16		70	1,8303		0,1,4151	yes	missense,missense	ITGAM	NM_001145808.1,NM_000632.3	50,50	0,1,6095	TT,TG,GG		0.012,0.0,0.0082	benign,benign	935/1154,934/1153	31340556	1,12191	1944	4152	6096	SO:0001583	missense	3684			J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"CD molecules", "Complement system", "Integrins"	6149	protein-coding gene	gene with protein product		120980	"integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.2800G>T	chr16.hg19:g.31340556G>T	ENSP00000287497:p.Val934Phe		Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	ENST00000287497.8	hg19	CCDS45470.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.464821	0.43839	0.0	1.2E-4	ENSG00000169896	ENST00000544665;ENST00000287497	T;T	0.44083	0.93;0.93	4.87	-6.59	0.01830	Integrin alpha-2 (1);	.	.	.	.	T	0.31513	0.0799	L	0.44542	1.39	0.09310	N	1	B;B	0.34181	0.44;0.44	B;B	0.41619	0.361;0.361	T	0.41574	-0.9501	9	0.59425	D	0.04	.	1.9836	0.03432	0.3427:0.3574:0.1793:0.1206	.	934;934	Q4VAK1;P11215	.;ITAM_HUMAN	F	935;934	ENSP00000441691:V935F;ENSP00000287497:V934F	ENSP00000287497:V934F	V	+	1	0	ITGAM	31248057	0.000000	0.05858	0.000000	0.03702	0.074000	0.17049	-0.727000	0.04931	-1.560000	0.01686	-0.903000	0.02851	GTC		0.542	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		T	31340556	G	T	31340556	3	4	660	1	0	0	0	0	1	0	0	0	7889	1261	44	4	2897	4	ITGAM	16	31340556	Missense_Mutation	SNP	G	TCGA-GL-7773-01A-11D-2136-08	564957	31340556	59014197	97	35984											
PHKB	5257	hgsc.bcm.edu	37	16	47684490	47684490	+	Missense_Mutation	SNP	G	G	T			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr16:47684490G>T	ENST00000323584.5	+	19	1857	c.1833G>T	c.(1831-1833)atG>atT	p.M611I	PHKB_ENST00000299167.8_Missense_Mutation_p.M611I|PHKB_ENST00000566044.1_Missense_Mutation_p.M604I|PHKB_ENST00000455779.1_Missense_Mutation_p.M604I	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	611					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|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)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				ATTGGAAAATGCATGGACGTC	0.408																																																0													137	120	126					16																	47684490		2201	4300	6501	SO:0001583	missense	5257				CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	2.7.11.19		8927	protein-coding gene	gene with protein product		172490					Standard	NM_000293		Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000323584.5:c.1833G>T	chr16.hg19:g.47684490G>T	ENSP00000313504:p.Met611Ile		Q8N4T5	Missense_Mutation	SNP	ENST00000323584.5	hg19	CCDS10729.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.004653	0.74932	.	.	ENSG00000102893	ENST00000299167;ENST00000455779;ENST00000323584	D;D	0.90900	-2.75;-2.75	5.86	5.86	0.93980	Glycoside hydrolase 15-related (1);	0.036486	0.85682	D	0.000000	D	0.91432	0.7296	M	0.73598	2.24	0.80722	D	1	B;B	0.26902	0.036;0.163	B;B	0.29862	0.098;0.108	D	0.88208	0.2888	10	0.44086	T	0.13	-27.2635	20.1813	0.98205	0.0:0.0:1.0:0.0	.	611;604	Q93100;Q93100-4	KPBB_HUMAN;.	I	604;604;611	ENSP00000414345:M604I;ENSP00000313504:M611I	ENSP00000299167:M604I	M	+	3	0	PHKB	46241991	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.172000	0.94808	2.777000	0.95525	0.591000	0.81541	ATG		0.408	PHKB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000430413.1			T	47684490	G	T	47684490	3	4	660	1	0	0	0	0	1	0	0	0	11847	1319	46	4	1966	4	PHKB	16	47684490	Missense_Mutation	SNP	G	TCGA-GL-7773-01A-11D-2136-08	16343934	47684490	42670263	98	35985											
SKAP1	8631	hgsc.bcm.edu	37	17	46423341	46423341	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr17:46423341delT	ENST00000336915.6	-	4	275	c.206delA	c.(205-207)gatfs	p.D70fs	SKAP1_ENST00000584924.1_Frame_Shift_Del_p.D70fs	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1	70					positive regulation of signal transduction (GO:0009967)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						GTGATTATCATCAGAGCTGTC	0.438																																																0													80	70	73					17																	46423341		2203	4300	6503	SO:0001589	frameshift_variant	8631			Y11215	CCDS32674.1	17q21.32	2013-01-10	2006-09-28	2006-09-28		ENSG00000141293		"Pleckstrin homology (PH) domain containing"	15605	protein-coding gene	gene with protein product		604969	"src family associated phosphoprotein 1"	SCAP1		9195899	Standard	NM_003726		Approved	SKAP55	uc002ini.1	Q86WV1		ENST00000336915.6:c.206delA	chr17.hg19:g.46423341delT	ENSP00000338171:p.Asp70fs		D3DTV1|O15268	Frame_Shift_Del	DEL	ENST00000336915.6	hg19	CCDS32674.1																																																																																				0.438	SKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443432.1	NM_003726		-	46423341	T	-	46423341	7	5	660	1	0	1	0	1	0	0	0	0	14361	1435	50	0	909	0	SKAP1	17	46423341	Frame_Shift_Del	DEL	T	TCGA-GL-7773-01A-11D-2136-08		46423341	34771869	99	35986											
HELZ	9931	hgsc.bcm.edu	37	17	65134124	65134125	+	Missense_Mutation	DNP	TG	TG	GA			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	T|G	T|G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr17:65134124_65134125TG>GA	ENST00000358691.5	-	22	3041_3042	c.2875_2876CA>TC	c.(2875-2877)CAa>TCa	p.Q959S	HELZ_ENST00000580168.1_Missense_Mutation_p.Q960S	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	959						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)					TCTAAACACTTGATCAGCATAT	0.401																																																0																																										SO:0001583	missense	9931			D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"Zinc fingers, CCCH-type domain containing"	16878	protein-coding gene	gene with protein product	"down-regulated in human cancers"	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.2875_2876delinsGA	chr17.hg19:g.65134124_65134125delinsGA	ENSP00000351524:p.Gln959Ser		I6L9H4	Missense_Mutation|Nonsense_Mutation	SNP	ENST00000358691.5	hg19	CCDS42374.1																																																																																				0.401	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		GA	65134125	TG	GA	65134124	3	3	660	1	0	0	0	0	1	0	0	0	7051	1812	63	5	3000	5	HELZ	17	65134124	Missense_Mutation	DNP	TG	TCGA-GL-7773-01A-11D-2136-08	18710783	65134124	16061086	100	35987											
COG1	9382	hgsc.bcm.edu	37	17	71197359	71197359	+	Missense_Mutation	SNP	A	A	G			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr17:71197359A>G	ENST00000299886.4	+	7	1473	c.1393A>G	c.(1393-1395)Atc>Gtc	p.I465V		NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	465					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			AAATAAGCACATCCACTTTGA	0.522																																																0													161	147	152					17																	71197359		2203	4300	6503	SO:0001583	missense	9382				CCDS11692.1	17q25.1	2008-05-14	2002-05-28	2002-05-31		ENSG00000166685		"Components of oligomeric golgi complex"	6545	protein-coding gene	gene with protein product		606973	"low density lipoprotein receptor defect B complementing"	LDLB		9927668	Standard	NM_018714		Approved	KIAA1381	uc002jjg.3	Q8WTW3		ENST00000299886.4:c.1393A>G	chr17.hg19:g.71197359A>G	ENSP00000299886:p.Ile465Val		Q9NPV9|Q9P2G6	Missense_Mutation	SNP	ENST00000299886.4	hg19	CCDS11692.1	.	.	.	.	.	.	.	.	.	.	A	6.539	0.467704	0.12402	.	.	ENSG00000166685	ENST00000438720;ENST00000299886	T;T	0.19938	2.11;2.11	5.28	-4.74	0.03249	.	0.662686	0.16490	N	0.212142	T	0.08714	0.0216	N	0.17674	0.51	0.09310	N	0.999994	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.40924	-0.9537	10	0.07990	T	0.79	-9.3358	8.8132	0.34981	0.3346:0.2123:0.4531:0.0	.	465;465;465	E9PBL8;Q8WTW3;Q4G0L8	.;COG1_HUMAN;.	V	465	ENSP00000400111:I465V;ENSP00000299886:I465V	ENSP00000299886:I465V	I	+	1	0	COG1	68708954	0.000000	0.05858	0.363000	0.25875	0.372000	0.29890	-0.711000	0.05019	-0.776000	0.04578	-0.250000	0.11733	ATC		0.522	COG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441638.1			G	71197359	A	G	71197359	3	3	660	1	0	0	0	0	1	0	0	0	3659	217	8	3	1419	3	COG1	17	71197359	Missense_Mutation	SNP	A	TCGA-GL-7773-01A-11D-2136-08	6063235	71197359	9997851	101	35988											
KIAA0802	23255	hgsc.bcm.edu	37	18	8813134	8813135	+	Frame_Shift_Ins	INS	-	-	T			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr18:8813134_8813135insT	ENST00000306329.11	+	10	3719_3720	c.3719_3720insT	c.(3718-3723)aactggfs	p.W1241fs	SOGA2_ENST00000306285.7_Frame_Shift_Ins_p.W275fs|SOGA2_ENST00000359865.3_Frame_Shift_Ins_p.W922fs|SOGA2_ENST00000400050.3_Frame_Shift_Ins_p.W881fs|SOGA2_ENST00000517570.1_Frame_Shift_Ins_p.W881fs|SOGA2_ENST00000518815.1_Frame_Shift_Ins_p.W275fs																							AGCGAGAAGAACTGGAACCGGG	0.574																																																0																																										SO:0001589	frameshift_variant	23255																														Exception_encountered	chr18.hg19:g.8813134_8813135insT	ENSP00000305027:p.Trp1241fs			Frame_Shift_Ins	INS	ENST00000306329.11	hg19																																																																																					0.574	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			T	8813135	-	T	8813134	7	5	660	1	0	1	1	0	0	0	0	0	8196	43	2	0	2800	0	KIAA0802	18	8813134	Frame_Shift_Ins	INS	-	TCGA-GL-7773-01A-11D-2136-08		8813134	69264114	102	35989	266	2									
KIAA0802	23255	hgsc.bcm.edu	37	18	8813135	8813135	+	Silent	SNP	C	C	T			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr18:8813135C>T	ENST00000306329.11	+	10	3720	c.3720C>T	c.(3718-3720)aaC>aaT	p.N1240N	SOGA2_ENST00000306285.7_Silent_p.N274N|SOGA2_ENST00000359865.3_Silent_p.N921N|SOGA2_ENST00000400050.3_Silent_p.N880N|SOGA2_ENST00000517570.1_Silent_p.N880N|SOGA2_ENST00000518815.1_Silent_p.N274N																							GCGAGAAGAACTGGAACCGGG	0.572																																																0													45	44	44					18																	8813135		2203	4300	6503	SO:0001819	synonymous_variant	23255																														ENST00000306329.11:c.3720C>T	chr18.hg19:g.8813135C>T				Silent	SNP	ENST00000306329.11	hg19																																																																																					0.572	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			T	8813135	C	T	8813135	2	4	660	1	0	0	0	0	0	0	0	1	8196	564	20	2		2	KIAA0802	18	8813135	Silent	SNP	C	TCGA-GL-7773-01A-11D-2136-08	1	8813135	69264113	103	35990	266	2									
ZNF599	148103	hgsc.bcm.edu	37	19	35250173	35250173	+	Missense_Mutation	SNP	T	T	A	rs375598988		TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr19:35250173T>A	ENST00000329285.8	-	4	1906	c.1533A>T	c.(1531-1533)gaA>gaT	p.E511D		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	511					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)			CCTTTCCACATTCTCTACAAA	0.418																																																0													116	117	116					19																	35250173		2203	4300	6503	SO:0001583	missense	148103			AK055225	CCDS32991.1	19q13.13	2013-01-08				ENSG00000153896		"Zinc fingers, C2H2-type", "-"	26408	protein-coding gene	gene with protein product							Standard	NM_001007248		Approved	FLJ30663	uc010edn.1	Q96NL3		ENST00000329285.8:c.1533A>T	chr19.hg19:g.35250173T>A	ENSP00000333802:p.Glu511Asp		Q569K0|Q5PRG1	Missense_Mutation	SNP	ENST00000329285.8	hg19	CCDS32991.1	.	.	.	.	.	.	.	.	.	.	T	4.110	0.018610	0.07959	.	.	ENSG00000153896	ENST00000392231;ENST00000329285;ENST00000392229	T	0.07444	3.19	2.52	1.45	0.22620	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07143	0.0181	L	0.50993	1.605	0.58432	D	0.999999	B	0.06786	0.001	B	0.11329	0.006	T	0.24905	-1.0147	9	0.45353	T	0.12	.	2.0678	0.03606	0.2607:0.1492:0.0:0.5901	.	511	Q96NL3	ZN599_HUMAN	D	510;511;285	ENSP00000333802:E511D	ENSP00000333802:E511D	E	-	3	2	ZNF599	39942013	0.000000	0.05858	0.906000	0.35671	0.133000	0.20885	-1.206000	0.03011	0.357000	0.24183	0.482000	0.46254	GAA		0.418	ZNF599-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460648.2	XM_086046		A	35250173	T	A	35250173	3	1	660	1	0	0	0	0	1	0	0	0	18034	1490	52	5	237	5	ZNF599	19	35250173	Missense_Mutation	SNP	T	TCGA-GL-7773-01A-11D-2136-08		35250173	23878810	104	35991	267	2									
ZNF599	148103	hgsc.bcm.edu	37	19	35250175	35250175	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr19:35250175C>A	ENST00000329285.8	-	4	1904	c.1531G>T	c.(1531-1533)Gaa>Taa	p.E511*		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	511					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)			TTTCCACATTCTCTACAAACA	0.418																																																0													115	117	116					19																	35250175		2203	4300	6503	SO:0001587	stop_gained	148103			AK055225	CCDS32991.1	19q13.13	2013-01-08				ENSG00000153896		"Zinc fingers, C2H2-type", "-"	26408	protein-coding gene	gene with protein product							Standard	NM_001007248		Approved	FLJ30663	uc010edn.1	Q96NL3		ENST00000329285.8:c.1531G>T	chr19.hg19:g.35250175C>A	ENSP00000333802:p.Glu511*		Q569K0|Q5PRG1	Nonsense_Mutation	SNP	ENST00000329285.8	hg19	CCDS32991.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.544924	0.86022	.	.	ENSG00000153896	ENST00000392231;ENST00000329285;ENST00000392229	.	.	.	2.52	2.52	0.30459	.	.	.	.	.	.	.	.	.	.	.	0.19300	N	0.999974	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	11.1742	0.48590	0.0:1.0:0.0:0.0	.	.	.	.	X	510;511;285	.	ENSP00000333802:E511X	E	-	1	0	ZNF599	39942015	0.000000	0.05858	0.726000	0.30738	0.087000	0.18053	0.077000	0.14738	1.711000	0.51337	0.591000	0.81541	GAA		0.418	ZNF599-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460648.2	XM_086046		A	35250175	C	A	35250175	4	1	660	1	0	0	0	0	0	1	0	0	18034	922	32	4	239	4	ZNF599	19	35250175	Nonsense_Mutation	SNP	C	TCGA-GL-7773-01A-11D-2136-08	2	35250175	23878808	105	35992	267	2									
SALL4	57167	hgsc.bcm.edu	37	20	50407897	50407897	+	Missense_Mutation	SNP	G	G	C			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr20:50407897G>C	ENST00000217086.4	-	2	1236	c.1125C>G	c.(1123-1125)gaC>gaG	p.D375E	SALL4_ENST00000371539.3_Intron|SALL4_ENST00000483130.1_5'Flank|SALL4_ENST00000395997.3_Missense_Mutation_p.D375E	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	375					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						GGGCCGCCTCGTCTTTGGGTT	0.547																																																0													78	76	77					20																	50407897		2203	4300	6503	SO:0001583	missense	57167			AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"Zinc fingers, C2H2-type"	15924	protein-coding gene	gene with protein product		607343	"sal (Drosophila)-like 4", "sal-like 4 (Drosophila)"				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.1125C>G	chr20.hg19:g.50407897G>C	ENSP00000217086:p.Asp375Glu		A2A2D8|Q540H3|Q6Y8G6	Missense_Mutation	SNP	ENST00000217086.4	hg19	CCDS13438.1	.	.	.	.	.	.	.	.	.	.	G	4.854	0.158821	0.09236	.	.	ENSG00000101115	ENST00000217086;ENST00000395997	T;T	0.08807	3.05;3.34	5.29	-5.33	0.02713	.	0.000000	0.47852	D	0.000204	T	0.08044	0.0201	L	0.29908	0.895	0.80722	D	1	B;D	0.69078	0.028;0.997	B;D	0.76575	0.006;0.988	T	0.49781	-0.8903	10	0.02654	T	1	-53.0902	4.1442	0.10209	0.5133:0.168:0.2268:0.0919	.	375;375	A2A2D8;Q9UJQ4	.;SALL4_HUMAN	E	375	ENSP00000217086:D375E;ENSP00000379319:D375E	ENSP00000217086:D375E	D	-	3	2	SALL4	49841304	0.000000	0.05858	0.608000	0.28969	0.091000	0.18340	-1.867000	0.01646	-0.896000	0.03915	-1.581000	0.00855	GAC		0.547	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			C	50407897	G	C	50407897	3	2	660	1	0	0	0	0	1	0	0	0	13819	1136	40	4	2048	4	SALL4	20	50407897	Missense_Mutation	SNP	G	TCGA-GL-7773-01A-11D-2136-08		50407897	12617623	106	35993											
RGL4	266747	hgsc.bcm.edu	37	22	24034222	24034222	+	Missense_Mutation	SNP	G	G	A			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr22:24034222G>A	ENST00000290691.5	+	1	1175	c.5G>A	c.(4-6)aGg>aAg	p.R2K	AP000347.2_ENST00000417194.1_RNA|KB-1572G7.2_ENST00000421064.1_RNA|GUSBP11_ENST00000455485.1_RNA|RGL4_ENST00000401461.1_Intron	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation stimulator-like 4	2					small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)	guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						GCTTTGATGAGGAAGCTGCTC	0.607																																																0													59	58	58					22																	24034222		2203	4300	6503	SO:0001583	missense	266747				CCDS13811.1	22q11.23	2008-02-22			ENSG00000159496	ENSG00000159496			31911	protein-coding gene	gene with protein product	"RalGDS related oncogene"	612214				9178890, 10851075	Standard	NM_153615		Approved	Rgr	uc002zxn.3	Q8IZJ4	OTTHUMG00000150711	ENST00000290691.5:c.5G>A	chr22.hg19:g.24034222G>A	ENSP00000290691:p.Arg2Lys		Q495L8	Missense_Mutation	SNP	ENST00000290691.5	hg19	CCDS13811.1	.	.	.	.	.	.	.	.	.	.	g	8.750	0.921142	0.17982	.	.	ENSG00000159496	ENST00000290691;ENST00000382833;ENST00000423392	T;T	0.32023	1.47;1.47	1.77	-2.54	0.06307	.	7.772780	0.01150	U	0.006397	T	0.18215	0.0437	N	0.14661	0.345	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.08055	0.003;0.0	T	0.27536	-1.0071	10	0.87932	D	0	.	4.1084	0.10047	0.1754:0.4809:0.3436:0.0	.	2;2	E9PH87;Q8IZJ4	.;RGDSR_HUMAN	K	2	ENSP00000290691:R2K;ENSP00000402142:R2K	ENSP00000290691:R2K	R	+	2	0	RGL4	22364222	0.139000	0.22563	0.000000	0.03702	0.001000	0.01503	-0.102000	0.10956	-0.558000	0.06118	-0.386000	0.06593	AGG		0.607	RGL4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319711.1	NM_153615		A	24034222	G	A	24034222	3	1	660	1	0	0	0	0	1	0	0	0	13285	1000	35	2	7	2	RGL4	22	24034222	Missense_Mutation	SNP	G	TCGA-GL-7773-01A-11D-2136-08		24034222	27270344	107	35994											
MICALL1	85377	hgsc.bcm.edu	37	22	38328888	38328888	+	Missense_Mutation	SNP	A	A	G			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr22:38328888A>G	ENST00000215957.6	+	12	2353	c.2227A>G	c.(2227-2229)Atc>Gtc	p.I743V	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	743	Necessary and sufficient to associate with tubular recycling endosome membranes, mediate phosphatidic acid- binding and membrane tubulation.|RAB-binding domain (RBD); mediates the interaction with RAB13 and RAB35 and intramolecular interaction with the CH domain.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|neuron projection development (GO:0031175)|protein localization to endosome (GO:0036010)|protein targeting to membrane (GO:0006612)|receptor-mediated endocytosis (GO:0006898)|retrograde transport, endosome to plasma membrane (GO:1990126)|slow endocytic recycling (GO:0032458)	extrinsic component of membrane (GO:0019898)|late endosome (GO:0005770)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					GTCCGAGCTCATCTATGTGTG	0.582																																																0													68	63	65					22																	38328888		2203	4300	6503	SO:0001583	missense	85377			BK000466	CCDS13961.1	22q13.1	2006-11-24			ENSG00000100139	ENSG00000100139			29804	protein-coding gene	gene with protein product	"molecule interacting with Rab13"					11258795, 12110185	Standard	NM_033386		Approved	MIRAB13, KIAA1668, MICAL-L1	uc003aui.3	Q8N3F8	OTTHUMG00000150670	ENST00000215957.6:c.2227A>G	chr22.hg19:g.38328888A>G	ENSP00000215957:p.Ile743Val		Q5TI16|Q7RTP5|Q8N3N8|Q9BVL9|Q9BY92|Q9UH43|Q9UH44|Q9UH45	Missense_Mutation	SNP	ENST00000215957.6	hg19	CCDS13961.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.26|13.26	2.184944|2.184944	0.38609|0.38609	.|.	.|.	ENSG00000100139|ENSG00000100139	ENST00000454685|ENST00000215957;ENST00000402631;ENST00000424008	.|T;T;T	.|0.39406	.|1.08;1.08;1.08	5.47|5.47	4.37|4.37	0.52481|0.52481	.|Domain of unknown function DUF3585 (1);	.|0.102897	.|0.43919	.|D	.|0.000508	T|T	0.16854|0.16854	0.0405|0.0405	N|N	0.02960|0.02960	-0.455|-0.455	0.40194|0.40194	D|D	0.97743|0.97743	.|B	.|0.34329	.|0.449	.|B	.|0.34873	.|0.191	T|T	0.09796|0.09796	-1.0658|-1.0658	5|10	.|0.19147	.|T	.|0.46	.|.	6.8248|6.8248	0.23876|0.23876	0.7709:0.1531:0.076:0.0|0.7709:0.1531:0.076:0.0	.|.	.|743	.|Q8N3F8	.|MILK1_HUMAN	R|V	318|743;170;57	.|ENSP00000215957:I743V;ENSP00000384608:I170V;ENSP00000416766:I57V	.|ENSP00000215957:I743V	H|I	+|+	2|1	0|0	MICALL1|MICALL1	36658834|36658834	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	5.031000|5.031000	0.64134|0.64134	2.070000|2.070000	0.61991|0.61991	0.482000|0.482000	0.46254|0.46254	CAT|ATC		0.582	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319545.4	NM_033386		G	38328888	A	G	38328888	3	3	660	1	0	0	0	0	1	0	0	0	9575	217	8	3	2273	3	MICALL1	22	38328888	Missense_Mutation	SNP	A	TCGA-GL-7773-01A-11D-2136-08	14294666	38328888	12975678	108	35995											
MKL1	57591	hgsc.bcm.edu	37	22	40816901	40816901	+	Missense_Mutation	SNP	C	C	G			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr22:40816901C>G	ENST00000355630.3	-	10	1421	c.831G>C	c.(829-831)caG>caC	p.Q277H	MKL1_ENST00000396617.3_Missense_Mutation_p.Q277H|MKL1_ENST00000407029.1_Missense_Mutation_p.Q277H|MKL1_ENST00000402042.1_Missense_Mutation_p.Q227H	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	277	Gln-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						GCTGCTGCTGCTGGTTGAGGA	0.657			T	RBM15	acute megakaryocytic leukemia																																		Dom	yes		22	22q13	57591	megakaryoblastic leukemia (translocation) 1		L	0													62	63	62					22																	40816901		2203	4300	6503	SO:0001583	missense	57591			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.831G>C	chr22.hg19:g.40816901C>G	ENSP00000347847:p.Gln277His		Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Missense_Mutation	SNP	ENST00000355630.3	hg19	CCDS14003.1	.	.	.	.	.	.	.	.	.	.	C	19.12	3.766193	0.69878	.	.	ENSG00000196588	ENST00000355630;ENST00000396617;ENST00000402042;ENST00000407029	T;T;T;T	0.61859	0.16;0.11;0.07;0.16	5.26	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.73353	0.3576	M	0.77616	2.38	0.48696	D	0.999692	P;D;P	0.67145	0.787;0.996;0.787	B;D;B	0.75484	0.294;0.986;0.294	T	0.75385	-0.3336	10	0.66056	D	0.02	-15.2355	9.9937	0.41887	0.0:0.8449:0.0:0.1551	.	227;277;277	B0QY83;E7ER32;Q969V6	.;.;MKL1_HUMAN	H	277;277;227;277	ENSP00000347847:Q277H;ENSP00000379861:Q277H;ENSP00000385584:Q227H;ENSP00000385835:Q277H	ENSP00000347847:Q277H	Q	-	3	2	MKL1	39146847	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.270000	0.51600	1.210000	0.43336	0.462000	0.41574	CAG		0.657	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		G	40816901	C	G	40816901	3	3	660	1	0	0	0	0	1	0	0	0	9603	796	28	4	1988	4	MKL1	22	40816901	Missense_Mutation	SNP	C	TCGA-GL-7773-01A-11D-2136-08	2488013	40816901	10487665	109	35996											
ARMCX1	51309	hgsc.bcm.edu	37	X	100808732	100808733	+	Frame_Shift_Ins	INS	-	-	T			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chrX:100808732_100808733insT	ENST00000372829.3	+	4	1190_1191	c.819_820insT	c.(820-822)ttgfs	p.L274fs		NM_016608.1	NP_057692.1	Q9P291	ARMX1_HUMAN	armadillo repeat containing, X-linked 1	274						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						CCCTTAATAACTTGAGTGTGAA	0.426																																																0																																										SO:0001589	frameshift_variant	51309			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.821dupT	chrX.hg19:g.100808734_100808734dupT	ENSP00000361917:p.Leu274fs		Q53HK2|Q9H2Q0	Frame_Shift_Ins	INS	ENST00000372829.3	hg19	CCDS14487.1																																																																																				0.426	ARMCX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057561.1	NM_016608		T	100808733	-	T	100808732	7	5	660	1	0	1	1	0	0	0	0	0	959	564	20	0	821	0	ARMCX1	23	100808732	Frame_Shift_Ins	INS	-	TCGA-GL-7773-01A-11D-2136-08		100808732	54461828	110	35997											
PLS3	5358	hgsc.bcm.edu	37	X	114883786	114883786	+	Missense_Mutation	SNP	G	G	C			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chrX:114883786G>C	ENST00000420625.2	+	16	1932	c.1798G>C	c.(1798-1800)Gtg>Ctg	p.V600L	PLS3_ENST00000537301.1_Missense_Mutation_p.V587L|PLS3_ENST00000543070.1_Missense_Mutation_p.V194L|PLS3_ENST00000355899.3_Missense_Mutation_p.V600L|PLS3_ENST00000289290.3_Missense_Mutation_p.V564L|PLS3_ENST00000539310.1_Missense_Mutation_p.V555L	NM_001136025.3|NM_001172335.1|NM_001282338.1	NP_001129497.1|NP_001165806.1|NP_001269267.1	P13797	PLST_HUMAN	plastin 3	600	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						CGGAGCCAGAGTGTATGCTCT	0.433																																					Colon(160;1047 1864 8490 12969 29601)											0													161	136	145					X																	114883786		2203	4300	6503	SO:0001583	missense	5358			L05491	CCDS14568.1, CCDS65312.1	Xq23	2013-01-10	2010-02-10		ENSG00000102024	ENSG00000102024		"EF-hand domain containing"	9091	protein-coding gene	gene with protein product		300131	"plastin 3 (T isoform)"			8428952	Standard	NM_005032		Approved	T-plastin	uc004eqe.3	P13797	OTTHUMG00000022237	ENST00000420625.2:c.1798G>C	chrX.hg19:g.114883786G>C	ENSP00000398945:p.Val600Leu		A8K579|B1AQ09|B4DGB4|B7Z6M1|Q86YI6	Missense_Mutation	SNP	ENST00000420625.2	hg19	CCDS14568.1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.840800	0.32513	.	.	ENSG00000102024	ENST00000355899;ENST00000537301;ENST00000289290;ENST00000420625;ENST00000539310;ENST00000543070	D;D;D;D;D;D	0.95001	-3.58;-3.58;-3.58;-3.58;-3.58;-3.58	5.59	5.59	0.84812	Calponin homology domain (5);	0.053518	0.85682	D	0.000000	D	0.95367	0.8496	M	0.81942	2.565	0.80722	D	1	B;B;B	0.21606	0.02;0.058;0.009	B;B;B	0.39771	0.309;0.306;0.215	D	0.93807	0.7106	10	0.87932	D	0	-7.9383	10.9343	0.47237	0.0886:0.0:0.9114:0.0	.	573;587;600	B4DPW9;B4DGB4;P13797	.;.;PLST_HUMAN	L	600;587;564;600;555;194	ENSP00000348163:V600L;ENSP00000445105:V587L;ENSP00000289290:V564L;ENSP00000398945:V600L;ENSP00000445339:V555L;ENSP00000439260:V194L	ENSP00000289290:V564L	V	+	1	0	PLS3	114790042	1.000000	0.71417	0.983000	0.44433	0.191000	0.23601	7.881000	0.87252	2.494000	0.84150	0.594000	0.82650	GTG		0.433	PLS3-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057976.2			C	114883786	G	C	114883786	3	2	660	1	0	0	0	0	1	0	0	0	12110	1029	36	4	1856	4	PLS3	23	114883786	Missense_Mutation	SNP	G	TCGA-GL-7773-01A-11D-2136-08	14075054	114883786	40386774	111	35998											
WDR44	54521	hgsc.bcm.edu	37	X	117526750	117526750	+	Missense_Mutation	SNP	T	T	G			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chrX:117526750T>G	ENST00000254029.3	+	4	737	c.342T>G	c.(340-342)gaT>gaG	p.D114E	WDR44_ENST00000493448.1_3'UTR|WDR44_ENST00000371825.3_Missense_Mutation_p.D114E|WDR44_ENST00000371822.5_Missense_Mutation_p.D89E	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	114	Binding activity.					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						TAGCCATAGATCAAGTACTAC	0.403																																																0													88	83	85					X																	117526750		2203	4300	6503	SO:0001583	missense	54521			AK001978	CCDS14572.1, CCDS55482.1, CCDS55483.1	Xq24	2013-01-09			ENSG00000131725	ENSG00000131725		"WD repeat domain containing"	30512	protein-coding gene	gene with protein product						12477932	Standard	NM_019045		Approved	DKFZp686L20145, RPH11, RAB11BP	uc004eqn.3	Q5JSH3	OTTHUMG00000022254	ENST00000254029.3:c.342T>G	chrX.hg19:g.117526750T>G	ENSP00000254029:p.Asp114Glu		B4DSE9|F8W913|Q0JS52|Q0JTF3|Q5JSH2|Q6ZSC1|Q7Z365|Q7Z3P6|Q8NAU8|Q8NHU5|Q9NUV4	Missense_Mutation	SNP	ENST00000254029.3	hg19	CCDS14572.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.058|0.058	-1.232190|-1.232190	0.01505|0.01505	.|.	.|.	ENSG00000131725|ENSG00000131725	ENST00000371822;ENST00000254029;ENST00000371825|ENST00000371848	T;T;T|.	0.71579|.	-0.58;0.02;0.15|.	5.68|5.68	0.195|0.195	0.15151|0.15151	.|.	0.637812|.	0.17319|.	N|.	0.178592|.	T|T	0.09949|0.09949	0.0244|0.0244	N|N	0.04508|0.04508	-0.205|-0.205	0.09310|0.09310	N|N	1|1	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.04013|.	0.001;0.001;0.0|.	T|T	0.26326|0.26326	-1.0106|-1.0106	10|5	0.08179|.	T|.	0.78|.	-1.0257|-1.0257	1.5608|1.5608	0.02594|0.02594	0.3214:0.0908:0.3459:0.2419|0.3214:0.0908:0.3459:0.2419	.|.	89;114;114|.	F8W913;Q5JSH3-2;Q5JSH3|.	.;.;WDR44_HUMAN|.	E|A	89;114;114|14	ENSP00000360887:D89E;ENSP00000254029:D114E;ENSP00000360890:D114E|.	ENSP00000254029:D114E|.	D|S	+|+	3|1	2|0	WDR44|WDR44	117410778|117410778	0.397000|0.397000	0.25270|0.25270	0.074000|0.074000	0.20217|0.20217	0.110000|0.110000	0.19582|0.19582	0.688000|0.688000	0.25422|0.25422	-0.017000|-0.017000	0.14103|0.14103	0.486000|0.486000	0.48141|0.48141	GAT|TCA		0.403	WDR44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058001.1	NM_019045		G	117526750	T	G	117526750	3	3	660	1	0	0	0	0	1	0	0	0	17301	1432	50	5	356	5	WDR44	23	117526750	Missense_Mutation	SNP	T	TCGA-GL-7773-01A-11D-2136-08	2642964	117526750	37743810	112	35999											
THOC2	57187	hgsc.bcm.edu	37	X	122801090	122801090	+	Silent	SNP	A	A	G			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chrX:122801090A>G	ENST00000245838.8	-	11	1088	c.1057T>C	c.(1057-1059)Tta>Cta	p.L353L	THOC2_ENST00000355725.4_Silent_p.L353L|THOC2_ENST00000491737.1_Silent_p.L238L	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	353					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						CCAATCTTTAATAAGGCTTCC	0.378																																																0													138	121	127					X																	122801090		1869	4097	5966	SO:0001819	synonymous_variant	57187			AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"THO complex subunits"	19073	protein-coding gene	gene with protein product		300395	"chromosome X open reading frame 3"	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.1057T>C	chrX.hg19:g.122801090A>G			A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Silent	SNP	ENST00000245838.8	hg19	CCDS43988.1																																																																																				0.378	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3			G	122801090	A	G	122801090	2	3	660	1	0	0	0	0	0	0	0	1	15870	98	4	3		3	THOC2	23	122801090	Silent	SNP	A	TCGA-GL-7773-01A-11D-2136-08	5274340	122801090	32469470	113	36000											
ATP2B3	492	hgsc.bcm.edu	37	X	152826336	152826336	+	Silent	SNP	C	C	T	rs181539158		TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chrX:152826336C>T	ENST00000349466.2	+	18	3368	c.3042C>T	c.(3040-3042)ttC>ttT	p.F1014F	ATP2B3_ENST00000393842.1_Silent_p.F1000F|ATP2B3_ENST00000263519.4_Silent_p.F1014F|ATP2B3_ENST00000359149.3_Silent_p.F1014F|ATP2B3_ENST00000370186.1_Silent_p.F1000F|ATP2B3_ENST00000370181.2_Silent_p.F1000F			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	1014					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)	p.F1014F(5)|p.F1014L(3)|p.F1000F(2)|p.F1000L(1)		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)					TGGGCACTTTCGGGATTCAGG	0.572													C|||	1	0.000264901	0.0008	0.0	3775	,	,		13946	0.0		0.0	False		,,,				2504	0.0															11	Substitution - coding silent(7)|Substitution - Missense(4)	lung(4)|breast(4)|large_intestine(3)											194	141	159					X																	152826336		2203	4300	6503	SO:0001819	synonymous_variant	492			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.3042C>T	chrX.hg19:g.152826336C>T			B7WNR8|B7WNY5|Q12995|Q16858	Silent	SNP	ENST00000349466.2	hg19	CCDS35440.1																																																																																				0.572	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		T	152826336	C	T	152826336	2	4	660	1	0	0	0	0	0	0	0	1	1141	883	31	1		1	ATP2B3	23	152826336	Silent	SNP	C	TCGA-GL-7773-01A-11D-2136-08	30025246	152826336	2444224	114	36001											
CC2D1B	200014	hgsc.bcm.edu	37	1	52820569	52820569	+	Missense_Mutation	SNP	C	C	A			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr1:52820569C>A	ENST00000371586.2	-	22	2438	c.2300G>T	c.(2299-2301)cGg>cTg	p.R767L	CC2D1B_ENST00000438831.1_Missense_Mutation_p.R142L|CC2D1B_ENST00000460261.1_5'UTR|CC2D1B_ENST00000284376.3_Missense_Mutation_p.R761L|RP11-155O18.6_ENST00000606527.1_RNA	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	767	C2.					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(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						CTTGAAGCCCCGGTGGTTTCG	0.532																																																0													135	130	131					1																	52820569		2203	4300	6503	SO:0001583	missense	200014			AB058739	CCDS30714.1	1p32.3	2008-02-05			ENSG00000154222	ENSG00000154222			29386	protein-coding gene	gene with protein product						11347906	Standard	NM_032449		Approved	KIAA1836	uc001ctq.2	Q5T0F9	OTTHUMG00000008102	ENST00000371586.2:c.2300G>T	chr1.hg19:g.52820569C>A	ENSP00000360642:p.Arg767Leu		Q49AE8|Q5T0F8|Q5T0G0|Q6ZNQ1|Q96AP3|Q96I04|Q96JJ1	Missense_Mutation	SNP	ENST00000371586.2	hg19	CCDS30714.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.756100|5.756100	0.96898|0.96898	.|.	.|.	ENSG00000154222|ENSG00000154222	ENST00000438021;ENST00000450942|ENST00000371586;ENST00000284376;ENST00000371573;ENST00000438831	.|T;T;T	.|0.27256	.|1.68;1.68;1.68	5.65|5.65	5.65|5.65	0.86999|0.86999	.|C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.58892|0.58892	0.2154|0.2154	M|M	0.84846|0.84846	2.72|2.72	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.999;0.999;0.999	T|T	0.62421|0.62421	-0.6858|-0.6858	5|10	.|0.87932	.|D	.|0	-19.4104|-19.4104	19.9142|19.9142	0.97043|0.97043	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|547;761;767	.|Q5T0G1;Q5T0F9-2;Q5T0F9	.|.;.;C2D1B_HUMAN	W|L	548;681|767;761;675;142	.|ENSP00000360642:R767L;ENSP00000284376:R761L;ENSP00000406300:R142L	.|ENSP00000284376:R761L	G|R	-|-	1|2	0|0	CC2D1B|CC2D1B	52593157|52593157	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.249000|7.249000	0.78278|0.78278	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GGG|CGG		0.532	CC2D1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022189.1	NM_032449		A	52820569	C	A	52820569	3	1	661	1	0	0	0	0	1	0	0	0	2729	652	23	4	288	4	CC2D1B	1	52820569	Missense_Mutation	SNP	C	TCGA-GL-7966-01A-11D-2201-08		52820569	196430052	1	36002											
EVI5	7813	hgsc.bcm.edu	37	1	93160869	93160869	+	Missense_Mutation	SNP	C	C	G			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr1:93160869C>G	ENST00000370331.1	-	7	1048	c.1039G>C	c.(1039-1041)Gag>Cag	p.E347Q	EVI5_ENST00000540033.1_Missense_Mutation_p.E347Q|EVI5_ENST00000543509.1_Missense_Mutation_p.E347Q	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	347	Dimerization.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				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)		TAGCTTACCTCAGACATAAAG	0.423																																																0													107	109	108					1																	93160869		2203	4300	6503	SO:0001583	missense	7813			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.1039G>C	chr1.hg19:g.93160869C>G	ENSP00000359356:p.Glu347Gln		A6NKX8|B9A6J0|Q9H1Y9	Missense_Mutation	SNP	ENST00000370331.1	hg19	CCDS30774.1	.	.	.	.	.	.	.	.	.	.	C	31	5.084339	0.94100	.	.	ENSG00000067208	ENST00000370331;ENST00000540033;ENST00000543509	T;T;T	0.14766	2.48;2.48;2.48	5.94	5.94	0.96194	Rab-GAP/TBC domain (4);	0.045268	0.85682	D	0.000000	T	0.34424	0.0897	M	0.83223	2.63	0.80722	D	1	D;D	0.60575	0.986;0.988	P;P	0.62560	0.844;0.904	T	0.13282	-1.0515	10	0.87932	D	0	-17.0097	20.3552	0.98837	0.0:1.0:0.0:0.0	.	347;347	F5H4R0;O60447	.;EVI5_HUMAN	Q	347	ENSP00000359356:E347Q;ENSP00000440826:E347Q;ENSP00000445019:E347Q	ENSP00000359356:E347Q	E	-	1	0	EVI5	92933457	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.760000	0.85248	2.812000	0.96745	0.557000	0.71058	GAG		0.423	EVI5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030047.1	NM_005665		G	93160869	C	G	93160869	3	3	661	1	0	0	0	0	1	0	0	0	5291	835	29	4	1441	4	EVI5	1	93160869	Missense_Mutation	SNP	C	TCGA-GL-7966-01A-11D-2201-08	40340300	93160869	156089752	2	36003											
OR6Y1	391112	hgsc.bcm.edu	37	1	158517503	158517503	+	Silent	SNP	A	A	T			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr1:158517503A>T	ENST00000302617.3	-	1	392	c.393T>A	c.(391-393)atT>atA	p.I131I		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	131						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)					GTGGATTACAAATGGCTACAT	0.473																																																0													100	85	90					1																	158517503		2202	4300	6502	SO:0001819	synonymous_variant	391112			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.393T>A	chr1.hg19:g.158517503A>T			Q6IFS0	Silent	SNP	ENST00000302617.3	hg19	CCDS30899.1																																																																																				0.473	OR6Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051844.1	NM_001005189		T	158517503	A	T	158517503	2	4	661	1	0	0	0	0	0	0	0	1	11215	10	1	5		5	OR6Y1	1	158517503	Silent	SNP	A	TCGA-GL-7966-01A-11D-2201-08	65356634	158517503	90733118	3	36004											
NUAK2	81788	hgsc.bcm.edu	37	1	205274389	205274389	+	Missense_Mutation	SNP	T	T	C			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr1:205274389T>C	ENST00000367157.3	-	6	887	c.761A>G	c.(760-762)gAc>gGc	p.D254G		NM_030952.1	NP_112214.1			NUAK family, SNF1-like kinase, 2											breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GATCTTATGGTCATGCCCATC	0.572																																																0													98	83	88					1																	205274389		2203	4300	6503	SO:0001583	missense	81788			AK074830	CCDS1453.1	1q32.1	2008-02-05			ENSG00000163545	ENSG00000163545			29558	protein-coding gene	gene with protein product	"SNF1/AMP activated protein kinase"	608131				11230166	Standard	NM_030952		Approved	SNARK, FLJ90349	uc001hce.3	Q9H093	OTTHUMG00000037196	ENST00000367157.3:c.761A>G	chr1.hg19:g.205274389T>C	ENSP00000356125:p.Asp254Gly			Missense_Mutation	SNP	ENST00000367157.3	hg19	CCDS1453.1	.	.	.	.	.	.	.	.	.	.	T	28.2	4.895395	0.91962	.	.	ENSG00000163545	ENST00000367157	T	0.26373	1.74	5.73	5.73	0.89815	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	0.47093	D	0.000245	T	0.38983	0.1061	L	0.41124	1.26	0.80722	D	1	D	0.63046	0.992	P	0.59056	0.851	T	0.13710	-1.0499	10	0.62326	D	0.03	.	15.683	0.77388	0.0:0.0:0.0:1.0	.	254	Q9H093	NUAK2_HUMAN	G	254	ENSP00000356125:D254G	ENSP00000356125:D254G	D	-	2	0	NUAK2	203541012	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	8.040000	0.89188	2.188000	0.69820	0.459000	0.35465	GAC		0.572	NUAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090390.1	NM_030952		C	205274389	T	C	205274389	3	2	661	1	0	0	0	0	1	0	0	0	10715	1667	58	3	1133	3	NUAK2	1	205274389	Missense_Mutation	SNP	T	TCGA-GL-7966-01A-11D-2201-08	46756886	205274389	43976232	4	36005											
C1orf55	163859	hgsc.bcm.edu	37	1	226180666	226180666	+	Missense_Mutation	SNP	A	A	C			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr1:226180666A>C	ENST00000272091.7	-	3	294	c.276T>G	c.(274-276)atT>atG	p.I92M		NM_152608.3	NP_689821.3	Q6IQ49	SDE2_HUMAN	SDE2 telomere maintenance homolog (S. pombe)	92																	TTGTCTTCTCAATCTGAGCAC	0.428																																																0													85	76	79					1																	226180666		1868	4101	5969	SO:0001583	missense	163859			BC071563	CCDS41473.1	1q42.12	2012-06-26	2012-06-26	2012-06-26	ENSG00000143751	ENSG00000143751			26643	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 55"	C1orf55		21333630	Standard	NM_152608		Approved	FLJ35382	uc001hpu.4	Q6IQ49	OTTHUMG00000037504	ENST00000272091.7:c.276T>G	chr1.hg19:g.226180666A>C	ENSP00000272091:p.Ile92Met		A8K4P3|Q5TD36|Q6ZS26|Q8NAG7	Missense_Mutation	SNP	ENST00000272091.7	hg19	CCDS41473.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.5|20.5	3.994098|3.994098	0.74703|0.74703	.|.	.|.	ENSG00000143751|ENSG00000143751	ENST00000272091;ENST00000366818|ENST00000366817	T|T	0.42131|0.49139	0.98|0.79	5.86|5.86	2.21|2.21	0.28008|0.28008	.|.	0.046995|.	0.85682|.	D|.	0.000000|.	T|T	0.41488|0.41488	0.1161|0.1161	L|L	0.41356|0.41356	1.27|1.27	0.29942|0.29942	N|N	0.82101|0.82101	D;D|.	0.89917|.	1.0;0.998|.	D;D|.	0.91635|.	0.999;0.978|.	T|T	0.45071|0.45071	-0.9286|-0.9286	10|7	0.15066|0.87932	T|D	0.55|0	-11.6814|-11.6814	4.9973|4.9973	0.14245|0.14245	0.6408:0.0:0.1288:0.2305|0.6408:0.0:0.1288:0.2305	.|.	80;92|.	Q6IQ49-2;Q6IQ49|.	.;CA055_HUMAN|.	M|W	92;80|41	ENSP00000272091:I92M|ENSP00000355782:L41W	ENSP00000272091:I92M|ENSP00000355782:L41W	I|L	-|-	3|2	3|0	C1orf55|C1orf55	224247289|224247289	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	1.520000|1.520000	0.35899|0.35899	0.119000|0.119000	0.18210|0.18210	0.529000|0.529000	0.55759|0.55759	ATT|TTG		0.428	SDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091310.1	NM_152608		C	226180666	A	C	226180666	3	2	661	1	0	0	0	0	1	0	0	0	2049	126	5	5	1099	5	C1orf55	1	226180666	Missense_Mutation	SNP	A	TCGA-GL-7966-01A-11D-2201-08	20906277	226180666	23069955	5	36006											
FH	2271	hgsc.bcm.edu	37	1	241663812	241663812	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr1:241663812G>A	ENST00000366560.3	-	9	1353	c.1315C>T	c.(1315-1317)Cag>Tag	p.Q439*		NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	439					cellular metabolic process (GO:0044237)|fumarate metabolic process (GO:0006106)|homeostasis of number of cells within a tissue (GO:0048873)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|tricarboxylic acid cycle enzyme complex (GO:0045239)	fumarate hydratase activity (GO:0004333)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		GTATTGGCCTGGATTCCCACC	0.413			"Mis, N, F"			"lieomyomatosis, renal"			Hereditary Leiomyomatosis and Renal Cell Cancer																												Melanoma(148;1573 2486 7381 46575)	yes	Rec		hereditary leiomyomatosis and renal cell cancer	1	1q42.1	2271	fumarate hydratase		"E, M"	0													149	143	145					1																	241663812		2203	4298	6501	SO:0001587	stop_gained	2271	Familial Cancer Database	HLRCC, Reed syndrome, Hereditary Multiple Leiomyomata of Skin and Uterus	BC003108	CCDS1617.1	1q42.1	2014-09-17			ENSG00000091483	ENSG00000091483	4.2.1.2		3700	protein-coding gene	gene with protein product		136850					Standard	NM_000143		Approved	fumarase	uc001hyx.3	P07954	OTTHUMG00000039597	ENST00000366560.3:c.1315C>T	chr1.hg19:g.241663812G>A	ENSP00000355518:p.Gln439*		B1ANK7	Nonsense_Mutation	SNP	ENST00000366560.3	hg19	CCDS1617.1	.	.	.	.	.	.	.	.	.	.	G	36	5.942978	0.97128	.	.	ENSG00000091483	ENST00000366560	.	.	.	5.71	5.71	0.89125	.	0.221640	0.47093	D	0.000245	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-13.6944	17.3485	0.87316	0.0:0.0:1.0:0.0	.	.	.	.	X	439	.	ENSP00000355518:Q439X	Q	-	1	0	FH	239730435	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.437000	0.52863	2.697000	0.92050	0.655000	0.94253	CAG		0.413	FH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095490.1	NM_000143		A	241663812	G	A	241663812	4	1	661	1	0	0	0	0	0	1	0	0	5877	1357	47	2	225	2	FH	1	241663812	Nonsense_Mutation	SNP	G	TCGA-GL-7966-01A-11D-2201-08	15483146	241663812	7586809	6	36007											
TAF1B	9014	hgsc.bcm.edu	37	2	10059757	10059763	+	Frame_Shift_Del	DEL	GCACACT	GCACACT	-	rs59159809		TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08	GCACACT	GCACACT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr2:10059757_10059763delGCACACT	ENST00000263663.5	+	14	1561_1567	c.1373_1379delGCACACT	c.(1372-1380)agcacactgfs	p.STL458fs	TAF1B_ENST00000396242.3_Frame_Shift_Del_p.STL203fs	NM_005680.2	NP_005671	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	458					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)			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)					AAACAATTTAGCACACTGGTCGAGTCA	0.391																																																0																																										SO:0001589	frameshift_variant	9014			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.1373_1379delGCACACT	chr2.hg19:g.10059757_10059763delGCACACT	ENSP00000263663:p.Ser458fs		B4DI42|F8WD72|Q15574|Q8WVC3	Frame_Shift_Del	DEL	ENST00000263663.5	hg19	CCDS33143.1																																																																																				0.391	TAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323426.2	NM_005680		-	10059763	GCACACT	-	10059757	7	5	661	1	0	1	0	1	0	0	0	0	15525	971	34	0	1427	0	TAF1B	2	10059757	Frame_Shift_Del	DEL	GCACACT	TCGA-GL-7966-01A-11D-2201-08		10059757	233139616	7	36008											
SCN2A	6326	hgsc.bcm.edu	37	2	166201262	166201262	+	Silent	SNP	C	C	G			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr2:166201262C>G	ENST00000375437.2	+	16	3050	c.2760C>G	c.(2758-2760)ctC>ctG	p.L920L	SCN2A_ENST00000283256.6_Silent_p.L920L|SCN2A_ENST00000357398.3_Silent_p.L920L|SCN2A_ENST00000375427.2_Silent_p.L920L	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	920					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)	ATTGTGAACTCCCACGCTGGC	0.488																																																0													231	208	216					2																	166201262		2203	4300	6503	SO:0001819	synonymous_variant	6326			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10588	protein-coding gene	gene with protein product		182390	"sodium channel, voltage-gated, type II, alpha 2 polypeptide", "sodium channel, voltage-gated, type II, alpha 1 polypeptide"	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.2760C>G	chr2.hg19:g.166201262C>G			A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Silent	SNP	ENST00000375437.2	hg19	CCDS33314.1																																																																																				0.488	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		G	166201262	C	G	166201262	2	3	661	1	0	0	0	0	0	0	0	1	13922	842	30	4		4	SCN2A	2	166201262	Silent	SNP	C	TCGA-GL-7966-01A-11D-2201-08	156141505	166201262	76998111	8	36009											
XIRP2	129446	hgsc.bcm.edu	37	2	168105759	168105759	+	Silent	SNP	G	G	A			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr2:168105759G>A	ENST00000409195.1	+	9	7946	c.7857G>A	c.(7855-7857)cgG>cgA	p.R2619R	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Silent_p.R2619R|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Silent_p.R2397R|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2444					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GTAATGCTCGGATACTAGGAG	0.458																																																0													88	85	86					2																	168105759		1909	4120	6029	SO:0001819	synonymous_variant	129446			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.7857G>A	chr2.hg19:g.168105759G>A			A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409195.1	hg19	CCDS42769.1																																																																																				0.458	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		A	168105759	G	A	168105759	2	1	661	1	0	0	0	0	0	0	0	1	17435	1161	41	2		2	XIRP2	2	168105759	Silent	SNP	G	TCGA-GL-7966-01A-11D-2201-08	1904497	168105759	75093614	9	36010											
SESTD1	91404	hgsc.bcm.edu	37	2	179986590	179986590	+	Missense_Mutation	SNP	G	G	A			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr2:179986590G>A	ENST00000428443.3	-	13	1665	c.1349C>T	c.(1348-1350)tCc>tTc	p.S450F		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	450							phosphatidic acid binding (GO:0070300)|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)			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			ATAGGCCCAGGATGCCTGATT	0.393																																																0													109	106	107					2																	179986590		2203	4300	6503	SO:0001583	missense	91404			AK096232	CCDS33338.1	2q31.3	2014-01-28			ENSG00000187231	ENSG00000187231			18379	protein-coding gene	gene with protein product						12837271	Standard	NM_178123		Approved	DKFZp434O0515, Solo	uc002uni.4	Q86VW0	OTTHUMG00000154554	ENST00000428443.3:c.1349C>T	chr2.hg19:g.179986590G>A	ENSP00000415332:p.Ser450Phe		Q53R38|Q53SP3|Q5GM69|Q8N6M1|Q96LQ2	Missense_Mutation	SNP	ENST00000428443.3	hg19	CCDS33338.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.547863	0.86022	.	.	ENSG00000187231	ENST00000428443	T	0.06371	3.31	5.18	5.18	0.71444	.	0.102206	0.64402	D	0.000001	T	0.06280	0.0162	N	0.24115	0.695	0.80722	D	1	P	0.50943	0.94	B	0.41571	0.36	T	0.50268	-0.8848	9	.	.	.	-0.0059	18.0499	0.89344	0.0:0.0:1.0:0.0	.	450	Q86VW0	SESD1_HUMAN	F	450	ENSP00000415332:S450F	.	S	-	2	0	SESTD1	179694835	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.023000	0.93683	2.584000	0.87258	0.467000	0.42956	TCC		0.393	SESTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335916.2	NM_178123		A	179986590	G	A	179986590	3	1	661	1	0	0	0	0	1	0	0	0	14133	1174	41	2	765	2	SESTD1	2	179986590	Missense_Mutation	SNP	G	TCGA-GL-7966-01A-11D-2201-08	11880831	179986590	63212783	10	36011											
ABCB6	10058	hgsc.bcm.edu	37	2	220074990	220074990	+	Silent	SNP	G	G	A			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr2:220074990G>A	ENST00000265316.3	-	18	2698	c.2382C>T	c.(2380-2382)atC>atT	p.I794I	ABCB6_ENST00000439002.2_Silent_p.I748I	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)	794	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|porphyrin-containing compound biosynthetic process (GO:0006779)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial envelope (GO:0005740)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|efflux transmembrane transporter activity (GO:0015562)|heme binding (GO:0020037)|heme transporter activity (GO:0015232)|heme-transporting ATPase activity (GO:0015439)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGATGACGAGGATCTGGTCAG	0.562																																																0													102	97	99					2																	220074990		2203	4300	6503	SO:0001819	synonymous_variant	10058			AF070598	CCDS2436.1	2q36	2014-08-27	2014-08-27		ENSG00000115657	ENSG00000115657		"ATP binding cassette transporters / subfamily B"	47	protein-coding gene	gene with protein product	"ATP-binding cassette half-transporter"	605452	"ATP-binding cassette, sub-family B (MDR/TAP), member 6"			8894702, 9110174	Standard	NM_005689		Approved	EST45597, umat, MTABC3	uc002vkc.2	Q9NP58	OTTHUMG00000133131	ENST00000265316.3:c.2382C>T	chr2.hg19:g.220074990G>A			O75542|Q49A66|Q59GQ5|Q6ZME6|Q96ME8|Q9HAQ6|Q9HAQ7	Silent	SNP	ENST00000265316.3	hg19	CCDS2436.1	.	.	.	.	.	.	.	.	.	.	G	9.909	1.208939	0.22205	.	.	ENSG00000115657	ENST00000295750	.	.	.	4.83	0.378	0.16204	.	.	.	.	.	T	0.56062	0.1960	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49579	-0.8925	4	.	.	.	-23.7644	9.3287	0.38008	0.3743:0.0:0.6257:0.0	.	.	.	.	F	642	.	.	S	-	2	0	ABCB6	219783234	1.000000	0.71417	0.992000	0.48379	0.984000	0.73092	0.893000	0.28336	0.171000	0.19730	-0.145000	0.13849	TCC		0.562	ABCB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256820.2	NM_005689		A	220074990	G	A	220074990	2	1	661	1	0	0	0	0	0	0	0	1	45	1164	41	2		2	ABCB6	2	220074990	Silent	SNP	G	TCGA-GL-7966-01A-11D-2201-08	40088400	220074990	23124383	11	36012											
CNOT10	25904	hgsc.bcm.edu	37	3	32766999	32766999	+	Missense_Mutation	SNP	G	G	A			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr3:32766999G>A	ENST00000328834.5	+	9	1236	c.920G>A	c.(919-921)aGc>aAc	p.S307N	CNOT10_ENST00000454516.2_Missense_Mutation_p.S367N|CNOT10_ENST00000538368.1_Missense_Mutation_p.S79N|CNOT10_ENST00000463697.1_3'UTR|CNOT10_ENST00000331889.6_Missense_Mutation_p.S307N	NM_015442.2	NP_056257.1	Q9H9A5	CNO10_HUMAN	CCR4-NOT transcription complex, subunit 10	307					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)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						TTTGCCATGAGCAAGCACAAT	0.393																																																0													148	145	146					3																	32766999		2203	4300	6503	SO:0001583	missense	25904			BC002928	CCDS2655.1, CCDS58821.1, CCDS58822.1	3p23	2013-01-10			ENSG00000182973	ENSG00000182973		"Tetratricopeptide (TTC) repeat domain containing"	23817	protein-coding gene	gene with protein product							Standard	NR_046352		Approved	FLJ12890, FLJ13165	uc011axj.2	Q9H9A5	OTTHUMG00000130748	ENST00000328834.5:c.920G>A	chr3.hg19:g.32766999G>A	ENSP00000330060:p.Ser307Asn		B7Z7L1|F8WAF2|Q9BU30|Q9H5J7|Q9H8X1|Q9H9W0|Q9HAH3|Q9UFJ2	Missense_Mutation	SNP	ENST00000328834.5	hg19	CCDS2655.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.689299	0.68271	.	.	ENSG00000182973	ENST00000331889;ENST00000328834;ENST00000540405;ENST00000538368;ENST00000454516	T;T;T;T	0.61859	0.07;0.07;0.07;0.07	5.52	5.52	0.82312	Tetratricopeptide-like helical (1);	0.043732	0.85682	D	0.000000	T	0.39279	0.1072	N	0.03608	-0.345	0.47037	D	0.999297	B;B;B;B	0.17465	0.022;0.011;0.019;0.014	B;B;B;B	0.19946	0.027;0.012;0.019;0.02	T	0.23013	-1.0200	10	0.39692	T	0.17	-16.0206	19.4425	0.94827	0.0:0.0:1.0:0.0	.	367;307;306;307	F8WAF2;Q9H9A5-3;Q9H9A5-2;Q9H9A5	.;.;.;CNOTA_HUMAN	N	307;307;207;79;367	ENSP00000329376:S307N;ENSP00000330060:S307N;ENSP00000442552:S79N;ENSP00000399862:S367N	ENSP00000330060:S307N	S	+	2	0	CNOT10	32742003	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.348000	0.97062	2.594000	0.87642	0.655000	0.94253	AGC		0.393	CNOT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253248.2	NM_015442		A	32766999	G	A	32766999	3	1	661	1	0	0	0	0	1	0	0	0	3620	971	34	2	954	2	CNOT10	3	32766999	Missense_Mutation	SNP	G	TCGA-GL-7966-01A-11D-2201-08		32766999	165255431	12	36013											
TAS2R1	50834	hgsc.bcm.edu	37	5	9629374	9629374	+	Silent	SNP	G	G	A			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr5:9629374G>A	ENST00000382492.2	-	1	1089	c.771C>T	c.(769-771)ttC>ttT	p.F257F	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	257					chemosensory behavior (GO:0007635)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						ACAGAAAGATGAACCTTCTGA	0.378																																																0													97	101	100					5																	9629374		2203	4300	6503	SO:0001819	synonymous_variant	50834			AF227129	CCDS3876.1	5p15	2012-08-22			ENSG00000169777	ENSG00000169777		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14909	protein-coding gene	gene with protein product		604796				10761934, 10766242	Standard	NM_019599		Approved	T2R1, TRB7	uc003jem.1	Q9NYW7	OTTHUMG00000090500	ENST00000382492.2:c.771C>T	chr5.hg19:g.9629374G>A			Q646G8	Silent	SNP	ENST00000382492.2	hg19	CCDS3876.1																																																																																				0.378	TAS2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206988.2			A	9629374	G	A	9629374	2	1	661	1	0	0	0	0	0	0	0	1	15570	1281	45	2		2	TAS2R1	5	9629374	Silent	SNP	G	TCGA-GL-7966-01A-11D-2201-08		9629374	171285886	13	36014											
SHROOM1	134549	hgsc.bcm.edu	37	5	132161119	132161119	+	Silent	SNP	C	C	T			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr5:132161119C>T	ENST00000378679.3	-	4	1518	c.714G>A	c.(712-714)ccG>ccA	p.P238P	SHROOM1_ENST00000319854.3_Silent_p.P238P|SHROOM1_ENST00000488072.1_5'Flank|SHROOM1_ENST00000378676.1_Silent_p.P238P	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	238					actin filament bundle assembly (GO:0051017)|cell morphogenesis (GO:0000902)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|myosin II complex (GO:0016460)	actin filament binding (GO:0051015)			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATTCCCGCGCCGGCCCACCGC	0.682																																																0																																										SO:0001819	synonymous_variant	134549			AF314142	CCDS4161.1, CCDS54902.1	5q31.1	2007-05-03			ENSG00000164403	ENSG00000164403			24084	protein-coding gene	gene with protein product		611179				11853319, 16615870	Standard	NM_133456		Approved	APXL2, KIAA1960	uc003kxy.2	Q2M3G4	OTTHUMG00000059835	ENST00000378679.3:c.714G>A	chr5.hg19:g.132161119C>T			B7WP40|B7ZL01|Q8TDP0|Q8TF41	Silent	SNP	ENST00000378679.3	hg19	CCDS54902.1																																																																																				0.682	SHROOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133033.1	NM_133456		T	132161119	C	T	132161119	2	4	661	1	0	0	0	0	0	0	0	1	14299	639	23	1		1	SHROOM1	5	132161119	Silent	SNP	C	TCGA-GL-7966-01A-11D-2201-08	122531745	132161119	48754141	14	36015											
MTHFD1L	25902	hgsc.bcm.edu	37	6	151358132	151358132	+	Missense_Mutation	SNP	A	A	G			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr6:151358132A>G	ENST00000367321.3	+	26	3000	c.2726A>G	c.(2725-2727)aAg>aGg	p.K909R	AL133260.1_ENST00000408542.1_RNA	NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	909	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process (GO:0009396)|folic acid-containing compound metabolic process (GO:0006760)|formate metabolic process (GO:0015942)|one-carbon metabolic process (GO:0006730)|oxidation-reduction process (GO:0055114)|tetrahydrofolate interconversion (GO:0035999)|tetrahydrofolate metabolic process (GO:0046653)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		TGCATGGCAAAGACCCACCTT	0.463																																																0													85	79	81					6																	151358132		2203	4300	6503	SO:0001583	missense	25902			BC017477	CCDS5228.1, CCDS56457.1, CCDS75535.1, CCDS75536.1	6q25.1	2010-07-19	2004-12-13	2004-12-14	ENSG00000120254	ENSG00000120254	6.3.4.3		21055	protein-coding gene	gene with protein product	"10-formyl-THF synthetase", "mitochondrial C1-tetrahydrofolate synthase", "monofunctional C1-tetrahydrofolate synthase, mitochondrial"	611427	"formyltetrahydrofolate synthetase domain containing 1"	FTHFSDC1		18804703	Standard	NM_015440		Approved	DKFZP586G1517, FLJ21145	uc021zgs.1	Q6UB35	OTTHUMG00000015828	ENST00000367321.3:c.2726A>G	chr6.hg19:g.151358132A>G	ENSP00000356290:p.Lys909Arg		Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	Missense_Mutation	SNP	ENST00000367321.3	hg19	CCDS5228.1	.	.	.	.	.	.	.	.	.	.	A	28.8	4.951688	0.92660	.	.	ENSG00000120254	ENST00000367321;ENST00000453602;ENST00000450635	T;T;T	0.39787	1.06;1.06;1.06	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.73297	0.3569	H	0.97918	4.105	0.80722	D	1	D;D;D	0.89917	1.0;0.994;1.0	D;D;D	0.91635	0.999;0.914;0.999	D	0.84465	0.0596	10	0.72032	D	0.01	.	15.1893	0.73032	1.0:0.0:0.0:0.0	.	910;664;909	B7ZM99;B2RD24;Q6UB35	.;.;C1TM_HUMAN	R	909;34;8	ENSP00000356290:K909R;ENSP00000391022:K34R;ENSP00000399804:K8R	ENSP00000356290:K909R	K	+	2	0	MTHFD1L	151399825	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.339000	0.96797	1.974000	0.57490	0.533000	0.62120	AAG		0.463	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042699.1	NM_015440		G	151358132	A	G	151358132	3	3	661	1	0	0	0	0	1	0	0	0	9930	72	3	3	2828	3	MTHFD1L	6	151358132	Missense_Mutation	SNP	A	TCGA-GL-7966-01A-11D-2201-08		151358132	19756935	15	36016											
NOBOX	135935	hgsc.bcm.edu	37	7	144098145	144098145	+	Missense_Mutation	SNP	G	G	T			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr7:144098145G>T	ENST00000467773.1	-	4	837	c.838C>A	c.(838-840)Cgc>Agc	p.R280S	NOBOX_ENST00000223140.5_Missense_Mutation_p.R195S|NOBOX_ENST00000483238.1_Missense_Mutation_p.R280S	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	280					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)	p.R280G(2)		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)					TTACCTGAGCGGTATAGGGTT	0.542																																																2	Substitution - Missense(2)	kidney(2)											76	72	73					7																	144098145		1844	4092	5936	SO:0001583	missense	135935					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.838C>A	chr7.hg19:g.144098145G>T	ENSP00000419457:p.Arg280Ser		A6NCD3|A8MZN5	Missense_Mutation	SNP	ENST00000467773.1	hg19		.	.	.	.	.	.	.	.	.	.	G	14.32	2.499271	0.44455	.	.	ENSG00000106410	ENST00000483238;ENST00000467773;ENST00000223140;ENST00000555556	D;D;D	0.94828	-3.53;-3.53;-3.53	5.15	5.15	0.70609	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.135341	0.49305	D	0.000145	T	0.79776	0.4504	N	0.00007	-3.155	0.36532	D	0.870806	P	0.50819	0.939	P	0.56865	0.808	D	0.84935	0.0862	10	0.15066	T	0.55	-31.9255	13.9985	0.64419	0.0:0.0:1.0:0.0	.	280	O60393	NOBOX_HUMAN	S	280;280;195;69	ENSP00000419565:R280S;ENSP00000419457:R280S;ENSP00000223140:R195S	ENSP00000223140:R195S	R	-	1	0	NOBOX	143729078	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	2.884000	0.48562	2.671000	0.90904	0.650000	0.86243	CGC		0.542	NOBOX-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000350095.1	XM_001134420		T	144098145	G	T	144098145	3	4	661	1	0	0	0	0	1	0	0	0	10514	1116	39	4	1169	4	NOBOX	7	144098145	Missense_Mutation	SNP	G	TCGA-GL-7966-01A-11D-2201-08		144098145	15040518	16	36017											
KIAA1984	84960	hgsc.bcm.edu	37	9	139694856	139694856	+	Missense_Mutation	SNP	G	G	A	rs544497218	byFrequency	TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr9:139694856G>A	ENST00000338005.6	+	5	489	c.454G>A	c.(454-456)Gag>Aag	p.E152K	RP11-216L13.18_ENST00000471502.1_RNA|RP11-216L13.19_ENST00000415992.1_RNA|KIAA1984_ENST00000371682.3_3'UTR|RP11-216L13.17_ENST00000456614.2_Missense_Mutation_p.E182K	NM_001039374.4	NP_001034463.4	Q5T5S1	CC183_HUMAN		152										biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		CCGCCAGCTGGAGAACAACAT	0.602													G|||	3	0.000599042	0.0	0.0	5008	,	,		10479	0.0		0.0	False		,,,				2504	0.0031															0																																										SO:0001583	missense	84960																														ENST00000338005.6:c.454G>A	chr9.hg19:g.139694856G>A	ENSP00000338013:p.Glu152Lys		B2RP89|C9JD38|Q6P2D9|Q8NAI4|Q8TF18	Missense_Mutation	SNP	ENST00000338005.6	hg19	CCDS43906.1	.	.	.	.	.	.	.	.	.	.	G	31	5.059818	0.93846	.	.	ENSG00000213213	ENST00000423962;ENST00000338005	T	0.31510	1.49	4.19	4.19	0.49359	.	0.000000	0.41823	U	0.000810	T	0.50086	0.1595	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.49360	-0.8948	10	0.48119	T	0.1	-24.9723	12.0196	0.53336	0.0:0.0:1.0:0.0	.	152	Q5T5S1	K1984_HUMAN	K	152	ENSP00000338013:E152K	ENSP00000338013:E152K	E	+	1	0	KIAA1984	138814677	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	3.494000	0.53273	1.873000	0.54277	0.305000	0.20034	GAG		0.602	KIAA1984-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354899.1			A	139694856	G	A	139694856	3	1	661	1	0	0	0	0	1	0	0	0	8268	1175	41	2	472	2	KIAA1984	9	139694856	Missense_Mutation	SNP	G	TCGA-GL-7966-01A-11D-2201-08		139694856	1518575	17	36018											
PUS3	83480	hgsc.bcm.edu	37	11	125766029	125766029	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr11:125766029delT	ENST00000530811.1	-	1	196	c.151delA	c.(151-153)actfs	p.T51fs	HYLS1_ENST00000356438.3_Intron|HYLS1_ENST00000425380.2_Intron|PUS3_ENST00000227474.3_Frame_Shift_Del_p.T51fs|HYLS1_ENST00000526028.1_Intron			Q9BZE2	PUS3_HUMAN	pseudouridylate synthase 3	51					tRNA pseudouridine synthesis (GO:0031119)	nucleus (GO:0005634)	pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			NS(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10	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;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043)		GCACGCTTAGTTTTTCCAGCT	0.448																																																0													230	226	227					11																	125766029		2201	4299	6500	SO:0001589	frameshift_variant	83480			BC004822	CCDS8466.1, CCDS73411.1	11q24.2	2008-02-05							25461	protein-coding gene	gene with protein product						12477932	Standard	NM_031307		Approved	FKSG32	uc001qcy.2	Q9BZE2		ENST00000530811.1:c.151delA	chr11.hg19:g.125766029delT	ENSP00000432386:p.Thr51fs		B2RAM0|Q96D17|Q96J23|Q96NB4	Frame_Shift_Del	DEL	ENST00000530811.1	hg19	CCDS8466.1																																																																																				0.448	PUS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386783.1	NM_031307		-	125766029	T	-	125766029	7	5	661	1	0	1	0	1	0	0	0	0	12838	1725	60	0	1306	0	PUS3	11	125766029	Frame_Shift_Del	DEL	T	TCGA-GL-7966-01A-11D-2201-08		125766029	9240487	18	36019											
GLB1L2	89944	hgsc.bcm.edu	37	11	134241359	134241359	+	Silent	SNP	A	A	G			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr11:134241359A>G	ENST00000535456.2	+	14	1589	c.1401A>G	c.(1399-1401)acA>acG	p.T467T	GLB1L2_ENST00000389881.3_Silent_p.T467T|GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000339772.7_Silent_p.T467T	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	467					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)			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)		ACTACAAGACAACGAAGATTG	0.542																																																0													161	159	160					11																	134241359		2201	4297	6498	SO:0001819	synonymous_variant	89944				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.1401A>G	chr11.hg19:g.134241359A>G			A6NCE6|Q6UX60|Q8NC62|Q8NCB3|Q8NCJ1|Q96HP3	Silent	SNP	ENST00000535456.2	hg19	CCDS31724.1	.	.	.	.	.	.	.	.	.	.	A	4.458	0.084834	0.08583	.	.	ENSG00000149328	ENST00000525089	.	.	.	4.72	-9.38	0.00623	.	.	.	.	.	T	0.13457	0.0326	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.17961	-1.0352	4	.	.	.	-3.4454	0.6104	0.00760	0.3795:0.1978:0.2259:0.1968	.	.	.	.	D	406	.	.	N	+	1	0	GLB1L2	133746569	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-3.622000	0.00412	-1.622000	0.01560	-1.291000	0.01355	AAC		0.542	GLB1L2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393629.2	NM_138342		G	134241359	A	G	134241359	2	3	661	1	0	0	0	0	0	0	0	1	6431	117	5	3		3	GLB1L2	11	134241359	Silent	SNP	A	TCGA-GL-7966-01A-11D-2201-08	8475330	134241359	765157	19	36020											
ULK1	8408	hgsc.bcm.edu	37	12	132395297	132395297	+	Silent	SNP	C	C	T	rs571147302		TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr12:132395297C>T	ENST00000321867.4	+	12	1251	c.900C>T	c.(898-900)tcC>tcT	p.S300S		NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	300	Interaction with GABARAP and GABARAPL2.|Poly-Ser.				autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|cellular response to nutrient levels (GO:0031669)|cerebellar granule cell differentiation (GO:0021707)|negative regulation of collateral sprouting (GO:0048671)|neuron projection development (GO:0031175)|neuron projection regeneration (GO:0031102)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|protein autophosphorylation (GO:0046777)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|radial glia guided migration of cerebellar granule cell (GO:0021933)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of autophagy (GO:0010506)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|response to starvation (GO:0042594)	ATG1/UKL1 signaling complex (GO:0034273)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extrinsic component of autophagic vacuole membrane (GO:0097635)|extrinsic component of omegasome membrane (GO:0097629)|extrinsic component of pre-autophagosomal structure membrane (GO:0097632)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)	ATP binding (GO:0005524)|protein complex binding (GO:0032403)|protein serine/threonine kinase activity (GO:0004674)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		GCTCGGGGTCCGGCAGCAGCT	0.662													T|||	1	0.000199681	0.0008	0.0	5008	,	,		14232	0.0		0.0	False		,,,				2504	0.0															0													76	67	70					12																	132395297		2203	4299	6502	SO:0001819	synonymous_variant	8408			AF045458	CCDS9274.1	12q24.3	2014-02-12	2013-07-02		ENSG00000177169	ENSG00000177169			12558	protein-coding gene	gene with protein product	"ATG1 autophagy related 1 homolog (S. cerevisiae)"	603168	"unc-51 (C. elegans)-like kinase 1", "unc-51-like kinase 1 (C. elegans)"			9693035	Standard	NM_003565		Approved	ATG1, ATG1A	uc001uje.3	O75385	OTTHUMG00000168052	ENST00000321867.4:c.900C>T	chr12.hg19:g.132395297C>T			Q9UQ28	Silent	SNP	ENST00000321867.4	hg19	CCDS9274.1																																																																																				0.662	ULK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397769.3			T	132395297	C	T	132395297	2	4	661	1	0	0	0	0	0	0	0	1	16980	639	23	1		1	ULK1	12	132395297	Silent	SNP	C	TCGA-GL-7966-01A-11D-2201-08		132395297	1456598	20	36021											
SNURF	8926	hgsc.bcm.edu	37	15	25207297	25207297	+	Silent	SNP	C	C	T			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr15:25207297C>T	ENST00000577949.1	+	2	114	c.51C>T	c.(49-51)caC>caT	p.H17H	SNURF_ENST00000338094.6_Silent_p.H17H|SNRPN_ENST00000554227.2_5'UTR|SNURF_ENST00000551312.2_Silent_p.H17H|SNRPN_ENST00000577565.1_5'UTR|SNRPN_ENST00000400100.1_5'UTR|SNURF_ENST00000338327.4_Silent_p.H17H|SNRPN_ENST00000400098.1_5'UTR|SNRPN_ENST00000390687.4_5'UTR|SNRPN_ENST00000553597.1_3'UTR|SNRPN_ENST00000400097.1_5'UTR|SNRPN_ENST00000346403.6_5'UTR			Q9Y675	SNURF_HUMAN	SNRPN upstream reading frame	17						nucleus (GO:0005634)				breast(2)|large_intestine(2)|lung(1)	5		all_cancers(20;1.4e-21)|Breast(32;0.000625)		all cancers(64;3.48e-07)|Epithelial(43;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0142)		CAGAACAGCACGTACCAGAGG	0.448																																																0													154	124	134					15																	25207297		2203	4300	6503	SO:0001819	synonymous_variant	8926				CCDS10016.1	15q11.2	2013-08-27			ENSG00000214265	ENSG00000214265			11171	protein-coding gene	gene with protein product						10318933	Standard	NM_022804		Approved		uc001ywu.3	Q9Y675	OTTHUMG00000129181	ENST00000577949.1:c.51C>T	chr15.hg19:g.25207297C>T			A6NCW2	Silent	SNP	ENST00000577949.1	hg19	CCDS10016.1																																																																																				0.448	SNURF-005	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446300.1	NM_005678		T	25207297	C	T	25207297	2	4	661	1	0	0	0	0	0	0	0	1	14884	535	19	1		1	SNURF	15	25207297	Silent	SNP	C	TCGA-GL-7966-01A-11D-2201-08		25207297	77324095	21	36022											
B2M	567	hgsc.bcm.edu	37	15	45003781	45003782	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08	CT	CT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr15:45003781_45003782delCT	ENST00000558401.1	+	1	107_108	c.37_38delCT	c.(37-39)ctcfs	p.L13fs	PATL2_ENST00000558573.1_5'Flank|B2M_ENST00000559916.1_Frame_Shift_Del_p.L13fs|B2M_ENST00000544417.1_Frame_Shift_Del_p.L13fs	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin	13					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 exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein refolding (GO:0042026)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to molecule of bacterial origin (GO:0002237)|retina homeostasis (GO:0001895)|T cell differentiation in thymus (GO:0033077)|viral process (GO:0016032)	cytoplasm (GO:0005737)|early endosome lumen (GO:0031905)|early endosome membrane (GO:0031901)|endoplasmic reticulum lumen (GO:0005788)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)	p.L15fs*41(4)|p.A11fs*42(1)|p.L13F(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		GCTCGCGCTACTCTCTCTTTCT	0.614																																																6	Deletion - Frameshift(5)|Substitution - Missense(1)	large_intestine(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|skin(1)																																								SO:0001589	frameshift_variant	567			AB021288	CCDS10113.1	15q21-q22.2	2013-01-11			ENSG00000166710	ENSG00000166710		"Immunoglobulin superfamily / C1-set domain containing"	914	protein-coding gene	gene with protein product		109700					Standard	NM_004048		Approved		uc001zuc.3	P61769	OTTHUMG00000131247	ENST00000558401.1:c.37_38delCT	chr15.hg19:g.45003787_45003788delCT	ENSP00000452780:p.Leu13fs		P01884|Q540F8|Q6IAT8|Q9UCK0|Q9UD48|Q9UDF4	Frame_Shift_Del	DEL	ENST00000558401.1	hg19	CCDS10113.1																																																																																				0.614	B2M-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254007.2	NM_004048		-	45003782	CT	-	45003781	7	5	661	1	0	1	0	1	0	0	0	0	1244	565	20	0	39	0	B2M	15	45003781	Frame_Shift_Del	DEL	CT	TCGA-GL-7966-01A-11D-2201-08	19796484	45003781	57527611	22	36023											
UACA	55075	hgsc.bcm.edu	37	15	70987423	70987423	+	Silent	SNP	C	C	T			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr15:70987423C>T	ENST00000322954.6	-	3	419	c.234G>A	c.(232-234)aaG>aaA	p.K78K	UACA_ENST00000560441.1_Silent_p.K65K|UACA_ENST00000539319.1_Silent_p.K78K|UACA_ENST00000379983.2_Silent_p.K65K	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	78					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						CAAGATTCCCCTTTGAGGTCA	0.353																																																0													91	83	86					15																	70987423		2199	4297	6496	SO:0001819	synonymous_variant	55075			AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"Ankyrin repeat domain containing"	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.234G>A	chr15.hg19:g.70987423C>T			G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Silent	SNP	ENST00000322954.6	hg19	CCDS10235.1																																																																																				0.353	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2			T	70987423	C	T	70987423	2	4	661	1	0	0	0	0	0	0	0	1	16829	680	24	2		2	UACA	15	70987423	Silent	SNP	C	TCGA-GL-7966-01A-11D-2201-08	25983642	70987423	31543969	23	36024											
KIAA0753	9851	hgsc.bcm.edu	37	17	6531560	6531560	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr17:6531560G>A	ENST00000361413.3	-	3	953	c.595C>T	c.(595-597)Cag>Tag	p.Q199*	KIAA0753_ENST00000542606.1_5'UTR|KIAA0753_ENST00000572370.1_5'UTR	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	199						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		GGATGAGGCTGAAGTCCCGGA	0.483																																																0													129	131	131					17																	6531560		2023	4175	6198	SO:0001587	stop_gained	9851				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.595C>T	chr17.hg19:g.6531560G>A	ENSP00000355250:p.Gln199*		A8KA11|B7Z479|O94853|Q05D97|Q2KHN0|Q9UG45	Nonsense_Mutation	SNP	ENST00000361413.3	hg19	CCDS42247.1	.	.	.	.	.	.	.	.	.	.	G	32	5.129961	0.94473	.	.	ENSG00000198920	ENST00000361413	.	.	.	5.34	-0.77	0.11005	.	0.864801	0.09963	N	0.733125	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-2.5116	10.7147	0.46005	0.0:0.5544:0.3039:0.1417	.	.	.	.	X	199	.	ENSP00000355250:Q199X	Q	-	1	0	KIAA0753	6472284	0.004000	0.15560	0.007000	0.13788	0.294000	0.27393	0.211000	0.17474	0.282000	0.22254	0.655000	0.94253	CAG		0.483	KIAA0753-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439769.3	NM_014804		A	6531560	G	A	6531560	4	1	661	1	0	0	0	0	0	1	0	0	8193	1299	45	2	2376	2	KIAA0753	17	6531560	Nonsense_Mutation	SNP	G	TCGA-GL-7966-01A-11D-2201-08		6531560	74663650	24	36025											
TRPV2	51393	hgsc.bcm.edu	37	17	16340169	16340169	+	Missense_Mutation	SNP	A	A	G			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr17:16340169A>G	ENST00000338560.7	+	15	2660	c.2261A>G	c.(2260-2262)aAc>aGc	p.N754S	C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000491009.1_RNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000365172.1_RNA|C17orf76-AS1_ENST00000460249.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000477249.2_RNA|TRPV2_ENST00000577397.1_Missense_Mutation_p.N324S|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000484836.1_RNA|C17orf76-AS1_ENST00000578380.2_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000481027.1_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000475953.1_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000483140.1_RNA|C17orf76-AS1_ENST00000480811.1_RNA|C17orf76-AS1_ENST00000579473.1_RNA	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	754					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)		TCTGAGGAAAACTATGTGCCC	0.562																																																0													154	134	141					17																	16340169		2203	4300	6503	SO:0001583	missense	51393			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.2261A>G	chr17.hg19:g.16340169A>G	ENSP00000342222:p.Asn754Ser		A6NML2|A8K0Z0|Q9Y670	Missense_Mutation	SNP	ENST00000338560.7	hg19	CCDS32576.1	.	.	.	.	.	.	.	.	.	.	A	5.819	0.335390	0.11013	.	.	ENSG00000187688	ENST00000338560	D	0.87334	-2.24	3.83	3.83	0.44106	.	0.576086	0.16403	N	0.215935	T	0.72740	0.3498	N	0.08118	0	0.19775	N	0.999956	B	0.09022	0.002	B	0.09377	0.004	T	0.61093	-0.7132	10	0.34782	T	0.22	-56.024	9.2873	0.37764	1.0:0.0:0.0:0.0	.	754	Q9Y5S1	TRPV2_HUMAN	S	754	ENSP00000342222:N754S	ENSP00000342222:N754S	N	+	2	0	TRPV2	16280894	0.920000	0.31207	0.964000	0.40570	0.094000	0.18550	2.141000	0.42168	1.972000	0.57404	0.459000	0.35465	AAC		0.562	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	NM_016113		G	16340169	A	G	16340169	3	3	661	1	0	0	0	0	1	0	0	0	16601	43	2	3	2315	3	TRPV2	17	16340169	Missense_Mutation	SNP	A	TCGA-GL-7966-01A-11D-2201-08	9808609	16340169	64855041	25	36026											
STARD3	10948	hgsc.bcm.edu	37	17	37809843	37809854	+	In_Frame_Del	DEL	CCTCCCTGGGCT	CCTCCCTGGGCT	-	rs371019835		TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08	CCTCCCTGGGCT	CCTCCCTGGGCT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr17:37809843_37809854delCCTCCCTGGGCT	ENST00000336308.5	+	2	277_288	c.59_70delCCTCCCTGGGCT	c.(58-72)gcctccctgggctcc>gcc	p.SLGS21del	STARD3_ENST00000544210.2_In_Frame_Del_p.SLGS21del|STARD3_ENST00000578232.1_Intron|STARD3_ENST00000394250.4_In_Frame_Del_p.SLGS21del|STARD3_ENST00000580611.1_In_Frame_Del_p.SLGS21del	NM_001165937.1|NM_006804.3	NP_001159409.1|NP_006795.3	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain containing 3	21					cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|mitochondrial transport (GO:0006839)|progesterone biosynthetic process (GO:0006701)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)	cholesterol binding (GO:0015485)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CCTGCCGTGGCCTCCCTGGGCTCCTCACTGTC	0.684											OREG0024381	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0																																										SO:0001651	inframe_deletion	10948				CCDS11341.1, CCDS54117.1, CCDS54118.1	17q11-q12	2011-09-12	2007-08-16		ENSG00000131748	ENSG00000131748		"StAR-related lipid transfer (START) domain containing"	17579	protein-coding gene	gene with protein product		607048	"START domain containing 3"				Standard	NM_006804		Approved	es64, MLN64	uc002hsd.3	Q14849	OTTHUMG00000133213	ENST00000336308.5:c.59_70delCCTCCCTGGGCT	chr17.hg19:g.37809843_37809854delCCTCCCTGGGCT	ENSP00000337446:p.Ser21_Ser24del	873	A8MXA4|B4DUY1|F5H0G2|Q53Y53|Q96HM9	In_Frame_Del	DEL	ENST00000336308.5	hg19	CCDS11341.1																																																																																				0.684	STARD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256933.1			-	37809854	CCTCCCTGGGCT	-	37809843	7	5	661	1	0	1	0	1	0	0	0	0	15262	739	26	0	61	0	STARD3	17	37809843	In_Frame_Del	DEL	CCTCCCTGGGCT	TCGA-GL-7966-01A-11D-2201-08	21469674	37809843	43385367	26	36027											
SYT4	6860	hgsc.bcm.edu	37	18	40853736	40853736	+	Missense_Mutation	SNP	C	C	G			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr18:40853736C>G	ENST00000255224.3	-	2	1026	c.658G>C	c.(658-660)Gat>Cat	p.D220H	SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Missense_Mutation_p.D202H	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	220	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Phospholipid binding. {ECO:0000305}.				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						AAGGTCTCATCAAAAGCTGGA	0.403																																					NSCLC(85;81 1419 2855 22820 35912)											0													111	108	109					18																	40853736		2203	4300	6503	SO:0001583	missense	6860			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.658G>C	chr18.hg19:g.40853736C>G	ENSP00000255224:p.Asp220His		B4DEU3|Q9P2K4	Missense_Mutation	SNP	ENST00000255224.3	hg19	CCDS11922.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.319387	0.81469	.	.	ENSG00000132872	ENST00000255224;ENST00000442661	T	0.09163	3.01	5.87	5.87	0.94306	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.043597	0.85682	D	0.000000	T	0.33265	0.0857	M	0.64260	1.97	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.69142	0.962;0.962	T	0.00357	-1.1792	10	0.87932	D	0	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	202;220	B4DEU3;Q9H2B2	.;SYT4_HUMAN	H	220;25	ENSP00000255224:D220H	ENSP00000255224:D220H	D	-	1	0	SYT4	39107734	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.729000	0.84864	2.941000	0.99782	0.655000	0.94253	GAT		0.403	SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255851.2	NM_020783		G	40853736	C	G	40853736	3	3	661	1	0	0	0	0	1	0	0	0	15481	826	29	4	631	4	SYT4	18	40853736	Missense_Mutation	SNP	C	TCGA-GL-7966-01A-11D-2201-08		40853736	37223512	27	36028											
SERPINB10	5273	hgsc.bcm.edu	37	18	61585305	61585305	+	Missense_Mutation	SNP	T	T	A			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr18:61585305T>A	ENST00000238508.3	+	4	400	c.341T>A	c.(340-342)aTa>aAa	p.I114K		NM_005024.1	NP_005015.1	P48595	SPB10_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 10	114					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)				GCCAATGCGATATATGGAGAG	0.363																																																0													103	94	97					18																	61585305		2203	4300	6503	SO:0001583	missense	5273			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.341T>A	chr18.hg19:g.61585305T>A	ENSP00000238508:p.Ile114Lys		Q4VAX4|Q4VAX7	Missense_Mutation	SNP	ENST00000238508.3	hg19	CCDS11990.1	.	.	.	.	.	.	.	.	.	.	T	9.136	1.012671	0.19277	.	.	ENSG00000242550	ENST00000238508	D	0.84370	-1.84	5.83	3.43	0.39272	Serpin domain (3);	0.694589	0.14087	N	0.342276	D	0.88555	0.6468	H	0.94771	3.58	0.09310	N	1	B	0.27316	0.175	B	0.28465	0.09	T	0.83166	-0.0096	10	0.87932	D	0	.	9.1438	0.36919	0.0:0.1534:0.0:0.8466	.	114	P48595	SPB10_HUMAN	K	114	ENSP00000238508:I114K	ENSP00000238508:I114K	I	+	2	0	SERPINB10	59736285	0.002000	0.14202	0.004000	0.12327	0.109000	0.19521	1.191000	0.32138	1.037000	0.40024	-0.274000	0.10170	ATA		0.363	SERPINB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134012.3	NM_005024		A	61585305	T	A	61585305	3	1	661	1	0	0	0	0	1	0	0	0	14103	1406	49	5	351	5	SERPINB10	18	61585305	Missense_Mutation	SNP	T	TCGA-GL-7966-01A-11D-2201-08	20731569	61585305	16491943	28	36029											
C19orf50	79036	hgsc.bcm.edu	37	19	18679377	18679377	+	Missense_Mutation	SNP	A	A	T			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr19:18679377A>T	ENST00000602094.1	+	5	1927	c.467A>T	c.(466-468)cAg>cTg	p.Q156L	KXD1_ENST00000539106.1_Missense_Mutation_p.Q156L|KXD1_ENST00000595073.1_Missense_Mutation_p.Q156L|AC005253.4_ENST00000593791.1_RNA|KXD1_ENST00000540691.1_Missense_Mutation_p.Q156L|KXD1_ENST00000222307.4_Missense_Mutation_p.Q156L|KXD1_ENST00000601630.1_Missense_Mutation_p.Q175L|KXD1_ENST00000599319.1_Missense_Mutation_p.Q156L			Q9BQD3	KXDL1_HUMAN	KxDL motif containing 1	156					vesicle-mediated transport (GO:0016192)	BLOC-1 complex (GO:0031083)											TCCCATGTCCAGCCTGGCTCC	0.657																																																0													96	89	92					19																	18679377		2203	4300	6503	SO:0001583	missense	79036			AK098346	CCDS12381.1	19p13.11	2011-11-24	2011-11-24	2011-11-24	ENSG00000105700	ENSG00000105700			28420	protein-coding gene	gene with protein product		615178	"chromosome 19 open reading frame 50"	C19orf50		21159114	Standard	NM_001171948		Approved	FLJ25480, MGC2749, KXDL	uc002njo.3	Q9BQD3		ENST00000602094.1:c.467A>T	chr19.hg19:g.18679377A>T	ENSP00000472836:p.Gln156Leu		O76098	Missense_Mutation	SNP	ENST00000602094.1	hg19	CCDS12381.1	.	.	.	.	.	.	.	.	.	.	A	12.86	2.064988	0.36470	.	.	ENSG00000105700	ENST00000540691;ENST00000539106;ENST00000222307	T;T;T	0.45276	0.9;0.9;0.9	4.59	-4.19	0.03835	.	0.517276	0.21501	N	0.073525	T	0.21590	0.0520	N	0.22421	0.69	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.05699	-1.0869	10	0.59425	D	0.04	-5.0797	6.0241	0.19646	0.4521:0.2352:0.3127:0.0	.	156	Q9BQD3	CS050_HUMAN	L	156	ENSP00000443549:Q156L;ENSP00000438903:Q156L;ENSP00000222307:Q156L	ENSP00000222307:Q156L	Q	+	2	0	C19orf50	18540377	0.002000	0.14202	0.000000	0.03702	0.040000	0.13550	0.014000	0.13333	-0.954000	0.03640	-0.345000	0.07892	CAG		0.657	KXD1-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465107.1	NM_024069		T	18679377	A	T	18679377	3	4	661	1	0	0	0	0	1	0	0	0	1934	188	7	5	481	5	C19orf50	19	18679377	Missense_Mutation	SNP	A	TCGA-GL-7966-01A-11D-2201-08		18679377	40449606	29	36030											
TCFL5	10732	hgsc.bcm.edu	37	20	61490803	61490806	+	Frame_Shift_Del	DEL	AGAA	AGAA	-			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08	AGAA	AGAA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr20:61490803_61490806delAGAA	ENST00000335351.3	-	3	996_999	c.904_907delTTCT	c.(904-909)ttctgtfs	p.FC302fs	TCFL5_ENST00000217162.5_Frame_Shift_Del_p.FC254fs	NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN	transcription factor-like 5 (basic helix-loop-helix)	302					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9	Breast(26;5.68e-08)					TGCTGATAACAGAAAGAAAATGCT	0.387																																																0																																										SO:0001589	frameshift_variant	10732			AB012124	CCDS13506.1	20q13.33	2013-09-19			ENSG00000101190	ENSG00000101190		"Basic helix-loop-helix proteins"	11646	protein-coding gene	gene with protein product	"HPV-16 E2 binding protein 1"	604745				9763657	Standard	XM_005260185		Approved	Figlb, E2BP-1, CHA, bHLHe82	uc002ydp.3	Q9UL49	OTTHUMG00000032939	ENST00000335351.3:c.904_907delTTCT	chr20.hg19:g.61490807_61490810delAGAA	ENSP00000334294:p.Phe302fs		O94771|Q9BYW0	Frame_Shift_Del	DEL	ENST00000335351.3	hg19	CCDS13506.1																																																																																				0.387	TCFL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080079.2	NM_006602		-	61490806	AGAA	-	61490803	7	5	661	1	0	1	0	1	0	0	0	0	15704	188	7	0	611	0	TCFL5	20	61490803	Frame_Shift_Del	DEL	AGAA	TCGA-GL-7966-01A-11D-2201-08		61490803	1534717	30	36031											
LSS	4047	hgsc.bcm.edu	37	21	47615617	47615617	+	Missense_Mutation	SNP	G	G	A			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr21:47615617G>A	ENST00000397728.3	-	19	1868	c.1790C>T	c.(1789-1791)gCc>gTc	p.A597V	LSS_ENST00000356396.4_Missense_Mutation_p.A597V|LSS_ENST00000522411.1_Missense_Mutation_p.A586V|LSS_ENST00000457828.2_Missense_Mutation_p.A517V|AP001468.1_ENST00000594486.1_5'Flank	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	597					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|lipid particle (GO:0005811)|membrane (GO:0016020)	lanosterol synthase activity (GO:0000250)	p.A597V(1)		cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					CCCCATACAGGCGAAGGCCTC	0.582																																					Pancreas(114;955 2313 34923 50507)											1	Substitution - Missense(1)	skin(1)											127	109	115					21																	47615617		2203	4300	6503	SO:0001583	missense	4047			U22526	CCDS13733.1, CCDS46654.1, CCDS54489.1	21q22.3	1998-05-07			ENSG00000160285	ENSG00000160285	5.4.99.7		6708	protein-coding gene	gene with protein product		600909				7639730, 8655142	Standard	NM_001001438		Approved	OSC	uc002zij.3	P48449	OTTHUMG00000090633	ENST00000397728.3:c.1790C>T	chr21.hg19:g.47615617G>A	ENSP00000380837:p.Ala597Val		B4DJZ9|D3DSN0|E9PEI9|G5E9Q9|Q8IYL6|Q9UEZ1	Missense_Mutation	SNP	ENST00000397728.3	hg19	CCDS13733.1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.738473	0.69304	.	.	ENSG00000160285	ENST00000356396;ENST00000457828;ENST00000397728;ENST00000522411	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	5.61	5.61	0.85477	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);	0.098347	0.64402	D	0.000001	T	0.31670	0.0804	L	0.39692	1.235	0.80722	D	1	D;D	0.62365	0.979;0.991	B;P	0.49922	0.393;0.626	T	0.01205	-1.1419	10	0.19590	T	0.45	.	19.224	0.93810	0.0:0.0:1.0:0.0	.	586;597	E9PEI9;P48449	.;ERG7_HUMAN	V	597;517;597;586	ENSP00000348762:A597V;ENSP00000409191:A517V;ENSP00000380837:A597V;ENSP00000429133:A586V	ENSP00000348762:A597V	A	-	2	0	LSS	46440045	1.000000	0.71417	1.000000	0.80357	0.709000	0.40893	9.232000	0.95325	2.633000	0.89246	0.655000	0.94253	GCC		0.582	LSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207274.2			A	47615617	G	A	47615617	3	1	661	1	0	0	0	0	1	0	0	0	9067	1203	42	2	424	2	LSS	21	47615617	Missense_Mutation	SNP	G	TCGA-GL-7966-01A-11D-2201-08		47615617	514278	31	36032											
NF2	4771	hgsc.bcm.edu	37	22	30061052	30061052	+	Splice_Site	DEL	T	T	-			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr22:30061052delT	ENST00000338641.4	+	9	1325	c.884delT	c.(883-885)ctg>cg	p.L295fs	NF2_ENST00000403435.1_Splice_Site_p.L295fs|NF2_ENST00000397789.3_Splice_Site_p.L295fs|NF2_ENST00000361166.4_Splice_Site_p.L295fs|NF2_ENST00000334961.7_Splice_Site_p.L212fs|NF2_ENST00000413209.2_Intron|NF2_ENST00000361676.4_Splice_Site_p.L253fs|NF2_ENST00000353887.4_Splice_Site_p.L212fs|NF2_ENST00000361452.4_Splice_Site_p.L254fs|NF2_ENST00000403999.3_Splice_Site_p.L295fs|NF2_ENST00000347330.5_Splice_Site_p.L136fs	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	295	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.?(3)|p.F271_L295del(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						GTTAATAAGCTGGTAAGTTGA	0.333			"D, Mis, N, F, S, O"		"meningioma, acoustic neuroma, renal "	"meningioma, acoustic neuroma"			Neurofibromatosis, type 2																													yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	neurofibromatosis type 2 gene		O	4	Unknown(3)|Deletion - In frame(1)	central_nervous_system(2)|large_intestine(1)|stomach(1)	GRCh37	CD070492	NF2	D							111	103	106					22																	30061052		2202	4300	6502	SO:0001630	splice_region_variant	4771	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"A-kinase anchor proteins"	7773	protein-coding gene	gene with protein product	"moesin-ezrin-radixin like", "schwannomin"	607379	"neurofibromin 2 (bilateral acoustic neuroma)"			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.885+1T>-	chr22.hg19:g.30061052delT			O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Frame_Shift_Del	DEL	ENST00000338641.4	hg19	CCDS13861.1																																																																																				0.333	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075615.3	NM_000268	Frame_Shift_Del	-	30061052	T	-	30061052	8	5	661	1	0	1	0	1	0	0	1	0	10359	1594	55	0	918	0	NF2	22	30061052	Splice_Site	DEL	T	TCGA-GL-7966-01A-11D-2201-08		30061052	21243514	32	36033											
APOL3	80833	hgsc.bcm.edu	37	22	36556768	36556768	+	Missense_Mutation	SNP	G	G	T	rs11089781	byFrequency	TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr22:36556768G>T	ENST00000349314.2	-	1	209	c.172C>A	c.(172-174)Cag>Aag	p.Q58K	APOL3_ENST00000361710.2_5'UTR|APOL3_ENST00000424878.2_5'UTR|APOL3_ENST00000397293.2_5'UTR|APOL3_ENST00000397287.2_5'UTR	NM_145640.2	NP_663615.1	O95236	APOL3_HUMAN	apolipoprotein L, 3	58					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						GTTCTGAGCTGTGTGGATCCC	0.512																																																0													149	122	131					22																	36556768		2203	4300	6503	SO:0001583	missense	80833			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.172C>A	chr22.hg19:g.36556768G>T	ENSP00000344577:p.Gln58Lys		B1AHI4|B1AHI5|Q5U5N4|Q9BQ82|Q9BQA3	Missense_Mutation	SNP	ENST00000349314.2	hg19	CCDS13922.1	.	.	.	.	.	.	.	.	.	.	G	5.735	0.320098	0.10845	.	.	ENSG00000128284	ENST00000349314;ENST00000531095	T;T	0.60672	3.74;0.17	2.76	1.71	0.24356	.	680.984000	0.00751	U	0.001072	T	0.34890	0.0913	N	0.08118	0	0.23879	N	0.99658	P	0.43477	0.808	B	0.33799	0.17	T	0.40040	-0.9584	10	0.51188	T	0.08	.	6.0512	0.19787	0.1475:0.0:0.8525:0.0	.	58	O95236	APOL3_HUMAN	K	58;22	ENSP00000344577:Q58K;ENSP00000432271:Q22K	ENSP00000344577:Q58K	Q	-	1	0	APOL3	34886714	0.000000	0.05858	0.006000	0.13384	0.005000	0.04900	-0.640000	0.05440	0.726000	0.32339	0.603000	0.83216	CAG		0.512	APOL3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319268.1	NM_145641		T	36556768	G	T	36556768	3	4	661	1	0	0	0	0	1	0	0	0	807	1386	48	4	1048	4	APOL3	22	36556768	Missense_Mutation	SNP	G	TCGA-GL-7966-01A-11D-2201-08	6495716	36556768	14747798	33	36034											
CACNG2	10369	hgsc.bcm.edu	37	22	37098492	37098492	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr22:37098492delT	ENST00000300105.6	-	1	1111	c.130delA	c.(130-132)agtfs	p.S44fs	RP1-293L6.1_ENST00000430281.1_RNA	NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	44					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						TCACTGACACTTTTGGTCTTG	0.488																																																0													266	225	239					22																	37098492		2203	4300	6503	SO:0001589	frameshift_variant	10369			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.130delA	chr22.hg19:g.37098492delT	ENSP00000300105:p.Ser44fs		Q2M1M1|Q5TGT3|Q9UGZ7	Frame_Shift_Del	DEL	ENST00000300105.6	hg19	CCDS13931.1																																																																																				0.488	CACNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075500.2			-	37098492	T	-	37098492	7	5	661	1	0	1	0	1	0	0	0	0	2559	1609	56	0	857	0	CACNG2	22	37098492	Frame_Shift_Del	DEL	T	TCGA-GL-7966-01A-11D-2201-08	541724	37098492	14206074	34	36035											
ATP2B3	492	hgsc.bcm.edu	37	X	152823737	152823737	+	Silent	SNP	C	C	T			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chrX:152823737C>T	ENST00000349466.2	+	16	2927	c.2601C>T	c.(2599-2601)gcC>gcT	p.A867A	ATP2B3_ENST00000460549.1_3'UTR|ATP2B3_ENST00000393842.1_Silent_p.A853A|ATP2B3_ENST00000359149.3_Silent_p.A867A|ATP2B3_ENST00000263519.4_Silent_p.A867A|ATP2B3_ENST00000370186.1_Silent_p.A853A|ATP2B3_ENST00000370181.2_Silent_p.A853A			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	867					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)					TGATCGTGGCCTTCACAGGTG	0.582																																																0													181	128	146					X																	152823737		2203	4300	6503	SO:0001819	synonymous_variant	492			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.2601C>T	chrX.hg19:g.152823737C>T			B7WNR8|B7WNY5|Q12995|Q16858	Silent	SNP	ENST00000349466.2	hg19	CCDS35440.1																																																																																				0.582	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		T	152823737	C	T	152823737	2	4	661	1	0	0	0	0	0	0	0	1	1141	668	24	2		2	ATP2B3	23	152823737	Silent	SNP	C	TCGA-GL-7966-01A-11D-2201-08		152823737	2446823	35	36036											
IPO13	9670	hgsc.bcm.edu	37	1	44423086	44423086	+	Missense_Mutation	SNP	C	C	A			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	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																																																0													109	99	103					1																	44423086		2203	4300	6503	SO:0001583	missense	9670			AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"Importins"	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	ENST00000372343.3:c.1405C>A	chr1.hg19:g.44423086C>A	ENSP00000361418:p.Leu469Ile		D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Missense_Mutation	SNP	ENST00000372343.3	hg19	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		A	44423086	C	A	44423086	3	1	662	1	0	0	0	0	1	0	0	0	7796	681	24	4	1431	4	IPO13	1	44423086	Missense_Mutation	SNP	C	TCGA-GL-8500-01A-11D-2396-08		44423086	204827535	1	36037											
SLC30A1	7779	hgsc.bcm.edu	37	1	211749303	211749308	+	In_Frame_Del	DEL	ATCTAA	ATCTAA	-			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08	ATCTAA	ATCTAA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr1:211749303_211749308delATCTAA	ENST00000367001.4	-	2	1075_1080	c.946_951delTTAGAT	c.(946-951)ttagatdel	p.LD316del		NM_021194.2	NP_067017.2	Q9Y6M5	ZNT1_HUMAN	solute carrier family 30 (zinc transporter), member 1	316					cadmium ion transmembrane transport (GO:0070574)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|cellular zinc ion homeostasis (GO:0006882)|detoxification of cadmium ion (GO:0071585)|in utero embryonic development (GO:0001701)|negative regulation of calcium ion import (GO:0090281)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of zinc ion transmembrane import (GO:0071584)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)	calcium channel inhibitor activity (GO:0019855)|zinc ion transmembrane transporter activity (GO:0005385)	p.D317Y(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(3)|prostate(1)	11				OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978)		AAAGAGTTGGATCTAAATATAGCACC	0.364																																																1	Substitution - Missense(1)	large_intestine(1)																																								SO:0001651	inframe_deletion	7779			AF323590	CCDS1499.1	1q32.3	2013-05-22			ENSG00000170385	ENSG00000170385		"Solute carriers"	11012	protein-coding gene	gene with protein product		609521		ZNT1			Standard	NM_021194		Approved	ZRC1	uc001hio.1	Q9Y6M5	OTTHUMG00000036995	ENST00000367001.4:c.946_951delTTAGAT	chr1.hg19:g.211749303_211749308delATCTAA	ENSP00000355968:p.Leu316_Asp317del		Q0VAK9|Q9BZF6	In_Frame_Del	DEL	ENST00000367001.4	hg19	CCDS1499.1																																																																																				0.364	SLC30A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104738.2			-	211749308	ATCTAA	-	211749303	7	5	662	1	0	1	0	1	0	0	0	0	14559	330	12	0	576	0	SLC30A1	1	211749303	In_Frame_Del	DEL	ATCTAA	TCGA-GL-8500-01A-11D-2396-08	167326217	211749303	37501318	2	36038											
RRP15	51018	hgsc.bcm.edu	37	1	218480910	218480910	+	Missense_Mutation	SNP	T	T	G			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr1:218480910T>G	ENST00000366932.3	+	4	671	c.641T>G	c.(640-642)tTg>tGg	p.L214W		NM_016052.3	NP_057136.2	Q9Y3B9	RRP15_HUMAN	ribosomal RNA processing 15 homolog (S. cerevisiae)	214						mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)			ACBD6/RRP15(2)	NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14				all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248)		ATCAGTGTTTTGAGAGGGATG	0.373																																																0													109	106	107					1																	218480910		2203	4300	6503	SO:0001583	missense	51018				CCDS1520.2	1q41	2008-02-05			ENSG00000067533	ENSG00000067533			24255	protein-coding gene	gene with protein product		611193	"KIAA0507"	KIAA0507		15769876	Standard	NM_016052		Approved	CGI-115	uc001hlj.3	Q9Y3B9	OTTHUMG00000039494	ENST00000366932.3:c.641T>G	chr1.hg19:g.218480910T>G	ENSP00000355899:p.Leu214Trp			Missense_Mutation	SNP	ENST00000366932.3	hg19	CCDS1520.2	.	.	.	.	.	.	.	.	.	.	T	28.0	4.883907	0.91814	.	.	ENSG00000067533	ENST00000366932	T	0.56275	0.47	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.78329	0.4266	M	0.90759	3.145	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.83015	-0.0170	10	0.87932	D	0	.	16.5764	0.84681	0.0:0.0:0.0:1.0	.	214	Q9Y3B9	RRP15_HUMAN	W	214	ENSP00000355899:L214W	ENSP00000355899:L214W	L	+	2	0	RRP15	216547533	1.000000	0.71417	0.940000	0.37924	0.987000	0.75469	7.935000	0.87658	2.371000	0.80710	0.533000	0.62120	TTG		0.373	RRP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095284.1	NM_016052		G	218480910	T	G	218480910	3	3	662	1	0	0	0	0	1	0	0	0	13693	1821	63	5	655	5	RRP15	1	218480910	Missense_Mutation	SNP	T	TCGA-GL-8500-01A-11D-2396-08	6731607	218480910	30769711	3	36039											
GALNT2	2590	hgsc.bcm.edu	37	1	230385000	230385000	+	Missense_Mutation	SNP	C	C	A			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr1:230385000C>A	ENST00000366672.4	+	9	960	c.888C>A	c.(886-888)aaC>aaA	p.N296K	GALNT2_ENST00000543760.1_Missense_Mutation_p.N258K|GALNT2_ENST00000541865.1_Missense_Mutation_p.N206K	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	296					cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|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 vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				GGCAGGGGAACCCAGTCGCCC	0.567																																																0													68	73	71					1																	230385000		2203	4300	6503	SO:0001583	missense	2590			BC041120	CCDS1582.1	1q41-q42	2014-03-13	2014-03-13		ENSG00000143641	ENSG00000143641	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4124	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 2"	602274	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)"			9592121, 7592619	Standard	NM_004481		Approved	GalNAc-T2	uc010pwa.1	Q10471	OTTHUMG00000037771	ENST00000366672.4:c.888C>A	chr1.hg19:g.230385000C>A	ENSP00000355632:p.Asn296Lys		A8K1Y3|B7Z8V8|C5HU00|Q9NPY4	Missense_Mutation	SNP	ENST00000366672.4	hg19	CCDS1582.1	.	.	.	.	.	.	.	.	.	.	C	12.77	2.038196	0.35989	.	.	ENSG00000143641	ENST00000543760;ENST00000366672;ENST00000543291;ENST00000541865	T;T;T	0.59638	0.25;0.25;0.25	4.99	0.378	0.16204	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	T	0.39118	0.1066	L	0.28649	0.875	0.80722	D	1	B;B	0.27882	0.192;0.063	B;B	0.20577	0.03;0.018	T	0.21690	-1.0238	10	0.66056	D	0.02	.	8.1747	0.31275	0.0:0.5081:0.0:0.4919	.	296;258	Q10471;G3V1S6	GALT2_HUMAN;.	K	258;296;177;206	ENSP00000445017:N258K;ENSP00000355632:N296K;ENSP00000444346:N206K	ENSP00000355632:N296K	N	+	3	2	GALNT2	228451623	0.998000	0.40836	0.988000	0.46212	0.888000	0.51559	0.520000	0.22878	0.244000	0.21351	-0.373000	0.07131	AAC		0.567	GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092158.1	NM_004481		A	230385000	C	A	230385000	3	1	662	1	0	0	0	0	1	0	0	0	6215	506	18	4	922	4	GALNT2	1	230385000	Missense_Mutation	SNP	C	TCGA-GL-8500-01A-11D-2396-08	11904090	230385000	18865621	4	36040											
RGS7	6000	hgsc.bcm.edu	37	1	241094065	241094065	+	Missense_Mutation	SNP	G	G	C			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr1:241094065G>C	ENST00000407727.1	-	5	336	c.337C>G	c.(337-339)Ccc>Gcc	p.P113A	RGS7_ENST00000366564.1_Missense_Mutation_p.P113A|RGS7_ENST00000331110.7_Missense_Mutation_p.P87A|RGS7_ENST00000366565.1_Missense_Mutation_p.P113A|RGS7_ENST00000366562.4_Missense_Mutation_p.P113A|RGS7_ENST00000366563.1_Missense_Mutation_p.P113A|RGS7_ENST00000348120.2_Intron|RGS7_ENST00000401882.1_Intron|RGS7_ENST00000446183.2_Missense_Mutation_p.P29A			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	113					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			CAAAAATAGGGGGTCTGCGGA	0.383																																																0													102	114	110					1																	241094065		2203	4300	6503	SO:0001583	missense	6000			BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"Regulators of G-protein signaling"	10003	protein-coding gene	gene with protein product		602517	"regulator of G-protein signalling 7"			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.337C>G	chr1.hg19:g.241094065G>C	ENSP00000384428:p.Pro113Ala		Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Missense_Mutation	SNP	ENST00000407727.1	hg19		.	.	.	.	.	.	.	.	.	.	G	25.7	4.660563	0.88154	.	.	ENSG00000182901	ENST00000331110;ENST00000366565;ENST00000366564;ENST00000366563;ENST00000446183;ENST00000366562;ENST00000407727	T;T;T;T;T;T;T	0.47177	1.16;1.1;1.14;1.13;0.85;1.14;1.11	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.74604	0.3738	M	0.88640	2.97	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	0.987;0.998;0.994;0.999;0.996	T	0.78907	-0.2019	10	0.87932	D	0	-3.1678	17.2744	0.87111	0.0:0.0:1.0:0.0	.	29;87;113;113;113	B7Z223;B7Z257;P49802-2;P49802-5;P49802-3	.;.;.;.;.	A	87;113;113;113;29;113;113	ENSP00000331485:P87A;ENSP00000355523:P113A;ENSP00000355522:P113A;ENSP00000355521:P113A;ENSP00000390138:P29A;ENSP00000355520:P113A;ENSP00000384428:P113A	ENSP00000331485:P87A	P	-	1	0	RGS7	239160688	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	9.000000	0.93564	2.769000	0.95229	0.655000	0.94253	CCC		0.383	RGS7-204	KNOWN	basic	protein_coding	protein_coding		NM_002924		C	241094065	G	C	241094065	3	2	662	1	0	0	0	0	1	0	0	0	13316	1232	43	4	1178	4	RGS7	1	241094065	Missense_Mutation	SNP	G	TCGA-GL-8500-01A-11D-2396-08	10709065	241094065	8156556	5	36041											
VPS24	51652	hgsc.bcm.edu	37	2	86790455	86790455	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr2:86790455delT	ENST00000263856.4	-	1	145	c.17delA	c.(16-18)aagfs	p.K6fs	CHMP3_ENST00000439940.2_Intron|RNF103-CHMP3_ENST00000604011.1_Intron|CHMP3_ENST00000409727.1_Frame_Shift_Del_p.K6fs|CHMP3_ENST00000409225.2_5'UTR|AC015971.2_ENST00000597638.1_RNA|AC015971.2_ENST00000439077.1_RNA	NM_001193517.1|NM_016079.3	NP_001180446.1|NP_057163.1	Q9Y3E7	CHMP3_HUMAN	charged multivesicular body protein 3	6	Intramolecular interaction with C- terminus.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|endosomal transport (GO:0016197)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)											CTCCTGGGTCTTTCCAAACAG	0.632																																																0													120	123	122					2																	86790455		2203	4300	6503	SO:0001589	frameshift_variant	51652			AF219226	CCDS33236.1, CCDS42707.1, CCDS54375.1	2p11.2	2011-09-21	2011-09-21	2011-09-21	ENSG00000115561	ENSG00000115561		"Charged multivesicular body proteins"	29865	protein-coding gene	gene with protein product		610052	"vacuolar protein sorting 24 (yeast)", "vacuolar protein sorting 24 homolog (S. cerevisiae)"	VPS24		11549700, 12878588	Standard	NM_016079		Approved	NEDF, CGI-149		Q9Y3E7	OTTHUMG00000153189	ENST00000263856.4:c.17delA	chr2.hg19:g.86790455delT	ENSP00000263856:p.Lys6fs		A8K3W0|B4DG34|B8ZZM0|B8ZZX5|Q3ZTS9|Q53S71|Q53SU5|Q9NZ51	Frame_Shift_Del	DEL	ENST00000263856.4	hg19	CCDS33236.1																																																																																				0.632	CHMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330015.2	NM_016079		-	86790455	T	-	86790455	7	5	662	1	0	1	0	1	0	0	0	0	17200	1609	56	0	675	0	VPS24	2	86790455	Frame_Shift_Del	DEL	T	TCGA-GL-8500-01A-11D-2396-08		86790455	156408918	6	36042											
SLC40A1	30061	hgsc.bcm.edu	37	2	190428363	190428363	+	Missense_Mutation	SNP	A	A	T			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr2:190428363A>T	ENST00000261024.2	-	7	1775	c.1349T>A	c.(1348-1350)gTg>gAg	p.V450E		NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	450					anatomical structure morphogenesis (GO:0009653)|cellular iron ion homeostasis (GO:0006879)|endothelium development (GO:0003158)|iron ion transmembrane transport (GO:0034755)|lymphocyte homeostasis (GO:0002260)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of apoptotic process (GO:0043066)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|spleen trabecula formation (GO:0060345)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	iron ion transmembrane transporter activity (GO:0005381)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			GATTATGGGCACAGATTCAGG	0.368																																																0													78	80	80					2																	190428363		2203	4300	6503	SO:0001583	missense	30061			AF215636	CCDS2299.1	2q32	2014-09-17	2003-06-04	2003-06-05	ENSG00000138449	ENSG00000138449		"Solute carriers"	10909	protein-coding gene	gene with protein product	"ferroportin 1"	604653	"solute carrier family 11 (proton-coupled divalent metal ion transporters), member 3"	SLC11A3		10828623	Standard	NM_014585		Approved	MTP1, IREG1, FPN1, HFE4	uc002uqp.4	Q9NP59	OTTHUMG00000132662	ENST00000261024.2:c.1349T>A	chr2.hg19:g.190428363A>T	ENSP00000261024:p.Val450Glu		Q6FI62|Q7Z4F8|Q8IVB2|Q9NRL0	Missense_Mutation	SNP	ENST00000261024.2	hg19	CCDS2299.1	.	.	.	.	.	.	.	.	.	.	A	13.30	2.195338	0.38806	.	.	ENSG00000138449	ENST00000261024	D	0.92397	-3.03	6.02	0.296	0.15757	Major facilitator superfamily domain, general substrate transporter (1);	0.667620	0.15785	N	0.244735	T	0.81245	0.4782	N	0.16368	0.405	0.22827	N	0.998683	B	0.02656	0.0	B	0.06405	0.002	T	0.61237	-0.7103	10	0.02654	T	1	-0.1187	12.0936	0.53742	0.5205:0.0:0.0:0.4795	.	450	Q9NP59	S40A1_HUMAN	E	450	ENSP00000261024:V450E	ENSP00000261024:V450E	V	-	2	0	SLC40A1	190136608	0.973000	0.33851	0.001000	0.08648	0.433000	0.31745	1.091000	0.30915	-0.201000	0.10284	0.528000	0.53228	GTG		0.368	SLC40A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255916.2			T	190428363	A	T	190428363	3	4	662	1	0	0	0	0	1	0	0	0	14634	159	6	5	374	5	SLC40A1	2	190428363	Missense_Mutation	SNP	A	TCGA-GL-8500-01A-11D-2396-08	103637908	190428363	52771010	7	36043											
HECW2	57520	hgsc.bcm.edu	37	2	197187250	197187250	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr2:197187250C>T	ENST00000260983.3	-	7	1018	c.836G>A	c.(835-837)gGg>gAg	p.G279E	HECW2_ENST00000409111.1_5'UTR	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	279	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						GGTTAGTTTCCCCAGAAAACG	0.413																																																0													123	126	125					2																	197187250		2203	4300	6503	SO:0001583	missense	57520			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.836G>A	chr2.hg19:g.197187250C>T	ENSP00000260983:p.Gly279Glu		B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	hg19	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	C	33	5.280284	0.95489	.	.	ENSG00000138411	ENST00000260983	T	0.77489	-1.1	5.49	5.49	0.81192	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.221358	0.47093	D	0.000253	D	0.88496	0.6452	M	0.75447	2.3	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88816	0.3295	10	0.87932	D	0	.	19.6359	0.95733	0.0:1.0:0.0:0.0	.	279	Q9P2P5	HECW2_HUMAN	E	279	ENSP00000260983:G279E	ENSP00000260983:G279E	G	-	2	0	HECW2	196895495	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.635000	0.83286	2.878000	0.98634	0.650000	0.86243	GGG		0.413	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		T	197187250	C	T	197187250	3	4	662	1	0	0	0	0	1	0	0	0	7045	623	22	2	3974	2	HECW2	2	197187250	Missense_Mutation	SNP	C	TCGA-GL-8500-01A-11D-2396-08	6758887	197187250	46012123	8	36044											
ABCB6	10058	hgsc.bcm.edu	37	2	220075814	220075814	+	Missense_Mutation	SNP	A	A	G	rs387906909		TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr2:220075814A>G	ENST00000265316.3	-	15	2301	c.1985T>C	c.(1984-1986)cTc>cCc	p.L662P	ABCB6_ENST00000439002.2_Missense_Mutation_p.L616P	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)	662	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|porphyrin-containing compound biosynthetic process (GO:0006779)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial envelope (GO:0005740)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|efflux transmembrane transporter activity (GO:0015562)|heme binding (GO:0020037)|heme transporter activity (GO:0015232)|heme-transporting ATPase activity (GO:0015439)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTGAGACCGGAGAGAGGCCTG	0.582																																																0													108	106	106					2																	220075814		2203	4300	6503	SO:0001583	missense	10058			AF070598	CCDS2436.1	2q36	2014-08-27	2014-08-27		ENSG00000115657	ENSG00000115657		"ATP binding cassette transporters / subfamily B"	47	protein-coding gene	gene with protein product	"ATP-binding cassette half-transporter"	605452	"ATP-binding cassette, sub-family B (MDR/TAP), member 6"			8894702, 9110174	Standard	NM_005689		Approved	EST45597, umat, MTABC3	uc002vkc.2	Q9NP58	OTTHUMG00000133131	ENST00000265316.3:c.1985T>C	chr2.hg19:g.220075814A>G	ENSP00000265316:p.Leu662Pro		O75542|Q49A66|Q59GQ5|Q6ZME6|Q96ME8|Q9HAQ6|Q9HAQ7	Missense_Mutation	SNP	ENST00000265316.3	hg19	CCDS2436.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.9|20.9	4.065625|4.065625	0.76187|0.76187	.|.	.|.	ENSG00000115657|ENSG00000115657	ENST00000265316;ENST00000439002|ENST00000295750	D;D|.	0.92299|.	-3.01;-3.01|.	4.7|4.7	4.7|4.7	0.59300|0.59300	ATPase, AAA+ type, core (1);ABC transporter-like (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.79885|0.79885	0.4523|0.4523	M|M	0.89478|0.89478	3.035|3.035	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.83275|.	0.994;0.996|.	D|D	0.83833|0.83833	0.0253|0.0253	10|5	0.87932|.	D|.	0|.	-18.3339|-18.3339	14.286|14.286	0.66247|0.66247	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	616;662|.	Q9NP58-4;Q9NP58|.	.;ABCB6_HUMAN|.	P|P	662;616|510	ENSP00000265316:L662P;ENSP00000394333:L616P|.	ENSP00000265316:L662P|.	L|S	-|-	2|1	0|0	ABCB6|ABCB6	219784058|219784058	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.828000|0.828000	0.46876|0.46876	8.912000|8.912000	0.92726|0.92726	2.084000|2.084000	0.62774|0.62774	0.528000|0.528000	0.53228|0.53228	CTC|TCC		0.582	ABCB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256820.2	NM_005689		G	220075814	A	G	220075814	3	3	662	1	0	0	0	0	1	0	0	0	45	304	11	3	563	3	ABCB6	2	220075814	Missense_Mutation	SNP	A	TCGA-GL-8500-01A-11D-2396-08	22888564	220075814	23123559	9	36045											
SEC13	6396	hgsc.bcm.edu	37	3	10342967	10342967	+	Missense_Mutation	SNP	T	T	C			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr3:10342967T>C	ENST00000350697.3	-	9	1072	c.947A>G	c.(946-948)gAg>gGg	p.E316G	SEC13_ENST00000383801.2_Missense_Mutation_p.E362G|SEC13_ENST00000397117.1_Intron|SEC13_ENST00000492602.1_Intron|SEC13_ENST00000337354.4_Missense_Mutation_p.E319G|SEC13_ENST00000397109.3_Missense_Mutation_p.E302G	NM_183352.1	NP_899195.1	P55735	SEC13_HUMAN	SEC13 homolog (S. cerevisiae)	316					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						CTGCTGGCCCTCTGTCACTGA	0.612																																																0													120	96	104					3																	10342967		2203	4300	6503	SO:0001583	missense	6396				CCDS2599.1, CCDS46751.1, CCDS63540.1	3p25-p24	2013-01-10	2006-11-07	2006-11-07	ENSG00000157020	ENSG00000157020		"WD repeat domain containing"	10697	protein-coding gene	gene with protein product		600152	"SEC13 (S. cerevisiae)-like 1", "SEC13-like 1 (S. cerevisiae)"	D3S1231E, SEC13L1		7987303	Standard	NM_183352		Approved	SEC13R, npp-20	uc003bvn.3	P55735	OTTHUMG00000128671	ENST00000350697.3:c.947A>G	chr3.hg19:g.10342967T>C	ENSP00000312122:p.Glu316Gly		A8MV37|B4DXJ1|Q5BJF0|Q9BRM6|Q9BUG7	Missense_Mutation	SNP	ENST00000350697.3	hg19	CCDS2599.1	.	.	.	.	.	.	.	.	.	.	T	17.66	3.444051	0.63067	.	.	ENSG00000157020	ENST00000397109;ENST00000337354;ENST00000350697;ENST00000383801	T;T;T;T	0.69806	0.84;-0.3;-0.43;-0.37	5.23	5.23	0.72850	.	0.288120	0.41001	D	0.000976	T	0.53706	0.1813	L	0.36672	1.1	0.54753	D	0.999984	P;B	0.34522	0.455;0.0	B;B	0.30105	0.111;0.0	T	0.53229	-0.8468	10	0.27785	T	0.31	.	13.0995	0.59212	0.0:0.0:0.0:1.0	.	362;316	B4DXJ1;P55735	.;SEC13_HUMAN	G	302;319;316;362	ENSP00000380298:E302G;ENSP00000336566:E319G;ENSP00000312122:E316G;ENSP00000373312:E362G	ENSP00000336566:E319G	E	-	2	0	SEC13	10317967	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	7.914000	0.87478	1.971000	0.57363	0.533000	0.62120	GAG		0.612	SEC13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250563.3			C	10342967	T	C	10342967	3	2	662	1	0	0	0	0	1	0	0	0	13986	1551	54	3	25	3	SEC13	3	10342967	Missense_Mutation	SNP	T	TCGA-GL-8500-01A-11D-2396-08		10342967	187679463	10	36046											
MLH1	4292	hgsc.bcm.edu	37	3	37042512	37042512	+	Missense_Mutation	SNP	G	G	A	rs63750133		TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr3:37042512G>A	ENST00000231790.2	+	3	490	c.274G>A	c.(274-276)Gcc>Acc	p.A92T	MLH1_ENST00000536378.1_5'UTR|MLH1_ENST00000458205.2_5'UTR|MLH1_ENST00000492474.1_3'UTR|MLH1_ENST00000455445.2_5'UTR|MLH1_ENST00000539477.1_5'UTR|MLH1_ENST00000435176.1_5'UTR	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	92					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						TGAGGATTTAGCCAGTATTTC	0.348		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																													yes	Rec	yes	"Hereditary non-polyposis colorectal cancer, Turcot syndrome"	3	3p21.3	4292	E.coli MutL homolog gene		"E, O"	0													152	151	152					3																	37042512		2203	4300	6503	SO:0001583	missense	4292	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	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.274G>A	chr3.hg19:g.37042512G>A	ENSP00000231790:p.Ala92Thr		B4DI13|B4DQ11|E9PCU2	Missense_Mutation	SNP	ENST00000231790.2	hg19	CCDS2663.1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.195561	0.38806	.	.	ENSG00000076242	ENST00000231790;ENST00000436867;ENST00000537937	D	0.94537	-3.45	5.91	4.11	0.48088	DNA mismatch repair protein, N-terminal (1);ATPase-like, ATP-binding domain (4);	0.269957	0.37669	N	0.001984	D	0.84683	0.5526	N	0.04018	-0.295	0.80722	D	1	B;B	0.16166	0.016;0.009	B;B	0.25405	0.06;0.038	T	0.75434	-0.3319	10	0.20046	T	0.44	-6.4566	8.0469	0.30555	0.0732:0.0:0.6432:0.2836	.	92;92	Q53GX1;P40692	.;MLH1_HUMAN	T	92;58;58	ENSP00000231790:A92T	ENSP00000231790:A92T	A	+	1	0	MLH1	37017516	1.000000	0.71417	0.962000	0.40283	0.992000	0.81027	1.745000	0.38278	0.829000	0.34733	-0.169000	0.13324	GCC		0.348	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253337.2	NM_000249		A	37042512	G	A	37042512	3	1	662	1	0	0	0	0	1	0	0	0	9619	971	34	2	284	2	MLH1	3	37042512	Missense_Mutation	SNP	G	TCGA-GL-8500-01A-11D-2396-08	26699545	37042512	160979918	11	36047											
XYLB	9942	hgsc.bcm.edu	37	3	38404484	38404484	+	Silent	SNP	C	C	G			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr3:38404484C>G	ENST00000207870.3	+	4	357	c.267C>G	c.(265-267)gtC>gtG	p.V89V	XYLB_ENST00000542835.1_Intron	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)	89					carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|D-xylose metabolic process (GO:0042732)|generation of precursor metabolites and energy (GO:0006091)|xylulose catabolic process (GO:0005998)|xylulose metabolic process (GO:0005997)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|xylulokinase activity (GO:0004856)			endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		TCTCTCAAGTCCTAGCCTTGT	0.532																																																0													108	108	108					3																	38404484		2203	4300	6503	SO:0001819	synonymous_variant	9942			AB015046	CCDS2678.1	3p22-p21.3	2006-12-18	2001-12-04		ENSG00000093217	ENSG00000093217			12839	protein-coding gene	gene with protein product		604049	"xylulokinase (H. influenzae) homolog"			9763671	Standard	NM_005108		Approved	FLJ10343, FLJ12539	uc003cic.2	O75191	OTTHUMG00000131294	ENST00000207870.3:c.267C>G	chr3.hg19:g.38404484C>G			B2RAW4|B4DDT2|B9EH64	Silent	SNP	ENST00000207870.3	hg19	CCDS2678.1																																																																																				0.532	XYLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254062.2	NM_005108		G	38404484	C	G	38404484	2	3	662	1	0	0	0	0	0	0	0	1	17467	842	30	4		4	XYLB	3	38404484	Silent	SNP	C	TCGA-GL-8500-01A-11D-2396-08	1361972	38404484	159617946	12	36048											
SMARCC1	6599	hgsc.bcm.edu	37	3	47716999	47716999	+	Missense_Mutation	SNP	C	C	G			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr3:47716999C>G	ENST00000254480.5	-	18	1924	c.1805G>C	c.(1804-1806)cGt>cCt	p.R602P	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	602					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)	p.R602H(1)		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)		AATGTCAGTACGGAGACCAAA	0.363																																																1	Substitution - Missense(1)	endometrium(1)											151	143	146					3																	47716999		2203	4300	6503	SO:0001583	missense	6599			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.1805G>C	chr3.hg19:g.47716999C>G	ENSP00000254480:p.Arg602Pro		Q17RS0|Q6P172|Q8IWH2	Missense_Mutation	SNP	ENST00000254480.5	hg19	CCDS2758.1	.	.	.	.	.	.	.	.	.	.	C	32	5.154800	0.94686	.	.	ENSG00000173473	ENST00000254480	T	0.51574	0.7	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.72867	0.3514	M	0.83012	2.62	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.75153	-0.3418	10	0.87932	D	0	-16.3291	19.1586	0.93522	0.0:1.0:0.0:0.0	.	602	Q92922	SMRC1_HUMAN	P	602	ENSP00000254480:R602P	ENSP00000254480:R602P	R	-	2	0	SMARCC1	47692003	1.000000	0.71417	0.991000	0.47740	0.919000	0.55068	7.614000	0.82996	2.873000	0.98535	0.563000	0.77884	CGT		0.363	SMARCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257491.1			G	47716999	C	G	47716999	3	3	662	1	0	0	0	0	1	0	0	0	14781	536	19	4	1556	4	SMARCC1	3	47716999	Missense_Mutation	SNP	C	TCGA-GL-8500-01A-11D-2396-08	9312515	47716999	150305431	13	36049											
SLC38A3	10991	hgsc.bcm.edu	37	3	50257565	50257565	+	RNA	SNP	A	A	G			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr3:50257565A>G	ENST00000420502.1	+	0	1624									solute carrier family 38, member 3											breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)		CTTCATCATCATTGACTGGGC	0.557																																																0													93	88	89					3																	50257565		2026	4180	6206			10991			U49082	CCDS74940.1	3p21.3	2013-05-22			ENSG00000188338	ENSG00000188338		"Solute carriers"	18044	protein-coding gene	gene with protein product		604437				10619430, 10823827	Standard	XM_006712954		Approved	G17, SN1	uc003cyn.4	Q99624	OTTHUMG00000156764		chr3.hg19:g.50257565A>G				Missense_Mutation	SNP	ENST00000420502.1	hg19																																																																																					0.557	SLC38A3-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000345635.2	NM_006841		G	50257565	A	G	50257565	1	3	662	0	1	0	0	0	0	0	0	0	14611	217	8	3		3	SLC38A3	3	50257565	RNA	SNP	A	TCGA-GL-8500-01A-11D-2396-08	2540566	50257565	147764865	14	36050											
ABHD10	55347	hgsc.bcm.edu	37	3	111700691	111700691	+	Missense_Mutation	SNP	A	A	G			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr3:111700691A>G	ENST00000273359.3	+	2	230	c.203A>G	c.(202-204)tAt>tGt	p.Y68C	ABHD10_ENST00000494817.1_Missense_Mutation_p.Y68C|ABHD10_ENST00000534857.1_Intron	NM_018394.2	NP_060864.1	Q9NUJ1	ABHDA_HUMAN	abhydrolase domain containing 10	68					glucuronoside catabolic process (GO:0019391)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			large_intestine(2)|lung(7)|skin(1)	10						AACCTGGCTTATAAGAAGCTA	0.378																																																0													126	123	124					3																	111700691		2203	4300	6503	SO:0001583	missense	55347			AL713726	CCDS2963.1, CCDS63718.1	3q13.2	2012-03-26			ENSG00000144827	ENSG00000144827		"Abhydrolase domain containing"	25656	protein-coding gene	gene with protein product						22294686	Standard	NM_018394		Approved	FLJ11342	uc003dyk.5	Q9NUJ1	OTTHUMG00000159280	ENST00000273359.3:c.203A>G	chr3.hg19:g.111700691A>G	ENSP00000273359:p.Tyr68Cys		B7Z6A8|C9IZX5|D3DN63|Q8TCF9	Missense_Mutation	SNP	ENST00000273359.3	hg19	CCDS2963.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.190688	0.78789	.	.	ENSG00000144827	ENST00000273359;ENST00000494817	T	0.48836	0.8	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.69115	0.3075	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.72962	-0.4132	10	0.62326	D	0.03	-30.1278	14.7236	0.69326	1.0:0.0:0.0:0.0	.	68	Q9NUJ1	ABHDA_HUMAN	C	68	ENSP00000273359:Y68C	ENSP00000273359:Y68C	Y	+	2	0	ABHD10	113183381	1.000000	0.71417	0.953000	0.39169	0.988000	0.76386	8.935000	0.92923	2.117000	0.64856	0.459000	0.35465	TAT		0.378	ABHD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354326.1	NM_018394		G	111700691	A	G	111700691	3	3	662	1	0	0	0	0	1	0	0	0	74	449	16	3	209	3	ABHD10	3	111700691	Missense_Mutation	SNP	A	TCGA-GL-8500-01A-11D-2396-08	61443126	111700691	86321739	15	36051											
ZMAT3	64393	hgsc.bcm.edu	37	3	178785387	178785387	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr3:178785387C>A	ENST00000311417.2	-	2	895	c.154G>T	c.(154-156)Gag>Tag	p.E52*	ZMAT3_ENST00000432729.1_Nonsense_Mutation_p.E52*	NM_022470.3	NP_071915.1			zinc finger, matrin-type 3											breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)			TTCGATAACTCTTCTTCCCCT	0.552																																																0													123	116	119					3																	178785387		2203	4300	6503	SO:0001587	stop_gained	64393			AK122768	CCDS3224.1, CCDS46962.1	3q26.32	2012-10-05	2010-09-15		ENSG00000172667	ENSG00000172667		"Zinc fingers, matrin-type"	29983	protein-coding gene	gene with protein product		606452				9400996, 11689294	Standard	NM_022470		Approved	WIG1, MGC10613, FLJ12296, WIG-1, PAG608	uc003fjg.3	Q9HA38	OTTHUMG00000157290	ENST00000311417.2:c.154G>T	chr3.hg19:g.178785387C>A	ENSP00000311221:p.Glu52*			Nonsense_Mutation	SNP	ENST00000311417.2	hg19	CCDS3224.1	.	.	.	.	.	.	.	.	.	.	C	44	11.170319	0.99525	.	.	ENSG00000172667	ENST00000311417;ENST00000432729;ENST00000414084	.	.	.	5.86	5.86	0.93980	.	0.278038	0.40554	N	0.001064	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	-15.196	20.1931	0.98233	0.0:1.0:0.0:0.0	.	.	.	.	X	52	.	ENSP00000311221:E52X	E	-	1	0	ZMAT3	180268081	1.000000	0.71417	0.999000	0.59377	0.928000	0.56348	5.278000	0.65592	2.771000	0.95319	0.563000	0.77884	GAG		0.552	ZMAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348336.2	NM_152240		A	178785387	C	A	178785387	4	1	662	1	0	0	0	0	0	1	0	0	17698	922	32	4	735	4	ZMAT3	3	178785387	Nonsense_Mutation	SNP	C	TCGA-GL-8500-01A-11D-2396-08	67084696	178785387	19237043	16	36052											
KIAA1109	84162	hgsc.bcm.edu	37	4	123229112	123229112	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr4:123229112delT	ENST00000264501.4	+	58	10223	c.9850delT	c.(9850-9852)tttfs	p.F3284fs	KIAA1109_ENST00000455637.1_Frame_Shift_Del_p.F3284fs|KIAA1109_ENST00000388738.3_Frame_Shift_Del_p.F3284fs			Q2LD37	K1109_HUMAN	KIAA1109	3284					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						AGCTGTGCTGTTTTGGCTGAA	0.343																																																0													132	129	130					4																	123229112		1827	4092	5919	SO:0001589	frameshift_variant	84162			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.9850delT	chr4.hg19:g.123229112delT	ENSP00000264501:p.Phe3284fs		Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Frame_Shift_Del	DEL	ENST00000264501.4	hg19	CCDS43267.1																																																																																				0.343	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		-	123229112	T	-	123229112	7	5	662	1	0	1	0	1	0	0	0	0	8210	1725	60	0	10072	0	KIAA1109	4	123229112	Frame_Shift_Del	DEL	T	TCGA-GL-8500-01A-11D-2396-08		123229112	67925164	17	36053											
SPOCK3	50859	hgsc.bcm.edu	37	4	167713322	167713322	+	Splice_Site	SNP	G	G	T			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr4:167713322G>T	ENST00000357154.3	-	8	854	c.717C>A	c.(715-717)agC>agA	p.S239R	SPOCK3_ENST00000541637.1_Splice_Site_p.S141R|SPOCK3_ENST00000535728.1_Intron|SPOCK3_ENST00000511269.1_Splice_Site_p.S236R|SPOCK3_ENST00000502330.1_Splice_Site_p.S239R|SPOCK3_ENST00000512648.1_Splice_Site_p.S236R|SPOCK3_ENST00000506886.1_Splice_Site_p.S239R|SPOCK3_ENST00000541354.1_Splice_Site_p.S119R|SPOCK3_ENST00000510741.1_Intron|SPOCK3_ENST00000511531.1_Splice_Site_p.S239R|SPOCK3_ENST00000504953.1_Splice_Site_p.S236R|SPOCK3_ENST00000421836.2_Splice_Site_p.S188R|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000512681.1_Splice_Site_p.S141R|SPOCK3_ENST00000357545.4_Splice_Site_p.S236R|SPOCK3_ENST00000534949.1_Splice_Site_p.S143R	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	239					negative regulation of endopeptidase activity (GO:0010951)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|metalloendopeptidase inhibitor activity (GO:0008191)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		AAATCTTACTGCTTCTCTCAG	0.373																																																0													101	84	90					4																	167713322		2203	4300	6503	SO:0001630	splice_region_variant	50859			AJ001454	CCDS34095.1, CCDS54817.1, CCDS56343.1, CCDS56344.1, CCDS56346.1, CCDS56347.1, CCDS58931.1, CCDS75207.1	4q32.3	2011-10-10			ENSG00000196104	ENSG00000196104			13565	protein-coding gene	gene with protein product		607989				11751414	Standard	NM_001204352		Approved	testican-3	uc003iri.1	Q9BQ16	OTTHUMG00000161190	ENST00000357154.3:c.718+1C>A	chr4.hg19:g.167713322G>T			B2R7M7|B3KR67|B4DGK5|B4DHB4|B4DHV3|B4DI46|B4DJY3|E7EP61|F5H099|O75705|Q6UW53|Q96Q26	Missense_Mutation	SNP	ENST00000357154.3	hg19	CCDS54817.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.504073	0.44558	.	.	ENSG00000196104	ENST00000357154;ENST00000357545;ENST00000504953;ENST00000506886;ENST00000511531;ENST00000502330;ENST00000541354;ENST00000512681;ENST00000511269;ENST00000421836;ENST00000541637;ENST00000534949;ENST00000512648;ENST00000510403	T;T;T;T;T;T;T;T;T;T;T;T;T;D	0.87412	1.48;1.49;1.49;1.48;1.48;1.48;1.4;0.92;1.49;1.29;0.92;1.18;2.2;-2.25	5.33	4.47	0.54385	SPARC/Testican, calcium-binding domain (1);EF-hand-like domain (1);	0.410761	0.26800	N	0.022422	D	0.89350	0.6690	L	0.59436	1.845	0.37036	D	0.896894	D;D;D;D;D;D;D	0.64830	0.959;0.967;0.958;0.994;0.967;0.98;0.984	P;P;P;D;P;P;P	0.63192	0.629;0.664;0.821;0.912;0.587;0.711;0.81	D	0.87800	0.2624	10	0.27082	T	0.32	-13.9637	9.7077	0.40225	0.2078:0.0:0.7921:0.0	.	141;143;188;248;239;236;239	B4DGK5;F5H099;B4DHB4;B4DFW5;Q9BQ16-2;Q9BQ16-1;Q9BQ16	.;.;.;.;.;.;TICN3_HUMAN	R	239;236;236;239;239;239;119;141;236;188;141;143;236;118	ENSP00000349677:S239R;ENSP00000350153:S236R;ENSP00000425570:S236R;ENSP00000420920:S239R;ENSP00000423421:S239R;ENSP00000423606:S239R;ENSP00000444789:S119R;ENSP00000426318:S141R;ENSP00000425502:S236R;ENSP00000411344:S188R;ENSP00000445430:S141R;ENSP00000438142:S143R;ENSP00000426177:S236R;ENSP00000423176:S118R	ENSP00000349677:S239R	S	-	3	2	SPOCK3	167949897	1.000000	0.71417	1.000000	0.80357	0.565000	0.35776	2.196000	0.42686	2.650000	0.89964	0.563000	0.77884	AGC		0.373	SPOCK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364091.1		Missense_Mutation	T	167713322	G	T	167713322	5	4	662	1	0	0	0	0	0	0	1	0	15086	1333	46	4	613	4	SPOCK3	4	167713322	Splice_Site	SNP	G	TCGA-GL-8500-01A-11D-2396-08	44484210	167713322	23440954	18	36054											
MOCS2	4338	hgsc.bcm.edu	37	5	52397195	52397196	+	Frame_Shift_Ins	INS	-	-	T			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr5:52397195_52397196insT	ENST00000396954.3	-	5	1047_1048	c.370_371insA	c.(370-372)agafs	p.R124fs	MOCS2_ENST00000361377.4_Intron|MOCS2_ENST00000508922.1_3'UTR|MOCS2_ENST00000582677.1_Intron|MOCS2_ENST00000584946.1_3'UTR|MOCS2_ENST00000510818.2_3'UTR|MOCS2_ENST00000527216.1_3'UTR|MOCS2_ENST00000450852.3_3'UTR	NM_004531.3	NP_004522.1			molybdenum cofactor synthesis 2											endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				ATACCCAAGTCTATGGAACACT	0.342																																																0																																										SO:0001589	frameshift_variant	4338			AF117815	CCDS3958.1, CCDS47205.1	5q11	2008-02-05			ENSG00000164172	ENSG00000164172			7193	protein-coding gene	gene with protein product		603708				10053004, 9889283	Standard	NM_004531		Approved	MOCO1	uc003joz.3	O96007	OTTHUMG00000096981	ENST00000396954.3:c.371dupA	chr5.hg19:g.52397196_52397196dupT	ENSP00000380157:p.Arg124fs			Frame_Shift_Ins	INS	ENST00000396954.3	hg19	CCDS3958.1																																																																																				0.342	MOCS2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214053.3	NM_183418		T	52397196	-	T	52397195	7	5	662	1	0	1	1	0	0	0	0	0	9693	913	32	0	207	0	MOCS2	5	52397195	Frame_Shift_Ins	INS	-	TCGA-GL-8500-01A-11D-2396-08		52397195	128518065	19	36055											
RGNEF	64283	hgsc.bcm.edu	37	5	73205322	73205322	+	Missense_Mutation	SNP	T	T	A			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr5:73205322T>A	ENST00000426542.2	+	33	4267	c.4247T>A	c.(4246-4248)aTc>aAc	p.I1416N	ARHGEF28_ENST00000296799.4_Missense_Mutation_p.I1103N|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.I1416N|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.I1372N|ARHGEF28_ENST00000545377.1_Missense_Mutation_p.I1416N|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.I1416N|ARHGEF28_ENST00000512883.1_Missense_Mutation_p.I336N|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.I1416N			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	1416					central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)										GGCCACTCTATCCTCCGAGGC	0.622																																																0													21	25	24					5																	73205322		2019	4181	6200	SO:0001583	missense	64283				CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.4247T>A	chr5.hg19:g.73205322T>A	ENSP00000412175:p.Ile1416Asn		B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Missense_Mutation	SNP	ENST00000426542.2	hg19	CCDS54870.1	.	.	.	.	.	.	.	.	.	.	T	0.004	-2.374983	0.00207	.	.	ENSG00000214944	ENST00000296794;ENST00000545377;ENST00000513042;ENST00000287898;ENST00000437974;ENST00000426542;ENST00000296799;ENST00000512883	T;T;T;T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91;1.91;1.91;1.91	0.55	0.55	0.17219	.	.	.	.	.	T	0.11324	0.0276	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.23990	0.002;0.023;0.04;0.004;0.095	B;B;B;B;B	0.23018	0.0;0.014;0.021;0.006;0.043	T	0.32481	-0.9905	8	0.27082	T	0.32	.	.	.	.	.	1103;1416;1416;336;1416	B5MDA3;Q8N1W1;E9PC75;D6RGZ3;Q8N1W1-4	.;RGNEF_HUMAN;.;.;.	N	1416;1416;1416;1372;1416;1416;1103;336	ENSP00000296794:I1416N;ENSP00000441913:I1416N;ENSP00000441436:I1416N;ENSP00000287898:I1372N;ENSP00000411459:I1416N;ENSP00000412175:I1416N;ENSP00000296799:I1103N;ENSP00000421081:I336N	ENSP00000287898:I1372N	I	+	2	0	RP11-428C6.1	73241078	0.000000	0.05858	0.009000	0.14445	0.029000	0.11900	0.015000	0.13355	0.464000	0.27142	0.454000	0.30748	ATC		0.622	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368975.1			A	73205322	T	A	73205322	3	1	662	1	0	0	0	0	1	0	0	0	13289	1435	50	5	4377	5	RGNEF	5	73205322	Missense_Mutation	SNP	T	TCGA-GL-8500-01A-11D-2396-08	20808127	73205322	107709938	20	36056											
SEMA6A	57556	hgsc.bcm.edu	37	5	115822558	115822558	+	Silent	SNP	G	G	A			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr5:115822558G>A	ENST00000343348.6	-	10	1636	c.849C>T	c.(847-849)tgC>tgT	p.C283C	CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000257414.8_Silent_p.C283C|SEMA6A_ENST00000503962.1_5'Flank|CTB-118N6.3_ENST00000514214.1_RNA|CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000510263.1_Silent_p.C283C	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	283	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)		CAGGAACTGAGCAGTTCAAGC	0.463																																																0													110	110	110					5																	115822558		2009	4214	6223	SO:0001819	synonymous_variant	57556			AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"Semaphorins"	10738	protein-coding gene	gene with protein product	"sema VIa"	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.849C>T	chr5.hg19:g.115822558G>A			Q9P2H9	Silent	SNP	ENST00000343348.6	hg19	CCDS47256.1																																																																																				0.463	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796		A	115822558	G	A	115822558	2	1	662	1	0	0	0	0	0	0	0	1	14045	963	34	2		2	SEMA6A	5	115822558	Silent	SNP	G	TCGA-GL-8500-01A-11D-2396-08	42617236	115822558	65092702	21	36057											
LOC153328	153328	hgsc.bcm.edu	37	5	135178132	135178132	+	Missense_Mutation	SNP	C	C	A			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr5:135178132C>A	ENST00000420621.1	+	2	246	c.74C>A	c.(73-75)cCt>cAt	p.P25H	SLC25A48_ENST00000433282.2_5'UTR|SLC25A48_ENST00000412661.2_Missense_Mutation_p.P25H|SLC25A48_ENST00000274513.5_Missense_Mutation_p.P25H|SLC25A48_ENST00000425402.1_Missense_Mutation_p.P25H			Q6ZT89	S2548_HUMAN	solute carrier family 25, member 48	25					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						GTTGGCCACCCTCTGGACACA	0.507																																																0													141	154	150					5																	135178132		2131	4257	6388	SO:0001583	missense	153328				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.74C>A	chr5.hg19:g.135178132C>A	ENSP00000407973:p.Pro25His		Q8TAV9	Missense_Mutation	SNP	ENST00000420621.1	hg19		.	.	.	.	.	.	.	.	.	.	C	18.21	3.574438	0.65878	.	.	ENSG00000145832	ENST00000425402;ENST00000274513;ENST00000420621;ENST00000412661	D;D;D;D	0.96885	-4.16;-4.16;-4.16;-4.16	4.46	4.46	0.54185	.	0.000000	0.85682	D	0.000000	D	0.98912	0.9631	H	0.98918	4.37	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98808	1.0742	10	0.87932	D	0	-31.2085	14.3274	0.66530	0.0:1.0:0.0:0.0	.	25;25	Q6ZT89-3;Q6ZT89-2	.;.	H	25	ENSP00000408750:P25H;ENSP00000274513:P25H;ENSP00000407973:P25H;ENSP00000413049:P25H	ENSP00000274513:P25H	P	+	2	0	SLC25A48	135206031	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	4.217000	0.58547	2.480000	0.83734	0.563000	0.77884	CCT		0.507	SLC25A48-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_145282		A	135178132	C	A	135178132	3	1	662	1	0	0	0	0	1	0	0	0	8873	681	24	4	80	4	LOC153328	5	135178132	Missense_Mutation	SNP	C	TCGA-GL-8500-01A-11D-2396-08	19355574	135178132	45737128	22	36058											
HSPA9	3313	hgsc.bcm.edu	37	5	137904733	137904733	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr5:137904733delT	ENST00000297185.3	-	5	541	c.416delA	c.(415-417)aatfs	p.N139fs	HSPA9_ENST00000501917.2_5'Flank	NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)	139					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)			AAAGGGAACATTTTTACTGTA	0.403																																																0													61	61	61					5																	137904733		2203	4300	6503	SO:0001589	frameshift_variant	3313			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.416delA	chr5.hg19:g.137904733delT	ENSP00000297185:p.Asn139fs		B2RCM1|P30036|P31932|Q1HB43|Q53H23|Q6GU03|Q9BWB7|Q9UC56	Frame_Shift_Del	DEL	ENST00000297185.3	hg19	CCDS4208.1																																																																																				0.403	HSPA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251285.1	NM_004134		-	137904733	T	-	137904733	7	5	662	1	0	1	0	1	0	0	0	0	7419	1493	52	0	1675	0	HSPA9	5	137904733	Frame_Shift_Del	DEL	T	TCGA-GL-8500-01A-11D-2396-08	2726601	137904733	43010527	23	36059											
RANBP17	64901	hgsc.bcm.edu	37	5	170323085	170323085	+	Missense_Mutation	SNP	T	T	A			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr5:170323085T>A	ENST00000523189.1	+	5	619	c.455T>A	c.(454-456)aTa>aAa	p.I152K		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	152					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)			ATAGGAGTAATAATCCTTTCT	0.388			T	TRD@	ALL																																		Dom	yes		5	5q34	64901	RAN binding protein 17		L	0													116	109	111					5																	170323085		2203	4300	6503	SO:0001583	missense	64901			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.455T>A	chr5.hg19:g.170323085T>A	ENSP00000427975:p.Ile152Lys		Q8IU74	Missense_Mutation	SNP	ENST00000523189.1	hg19	CCDS34287.1	.	.	.	.	.	.	.	.	.	.	.	4.832	0.154664	0.09236	.	.	ENSG00000204764	ENST00000523189	T	0.65916	-0.18	5.14	5.14	0.70334	Armadillo-type fold (1);	0.271232	0.32343	N	0.006225	T	0.29620	0.0739	N	0.02181	-0.65	0.49213	D	0.999766	B;B	0.19583	0.004;0.037	B;B	0.13407	0.007;0.009	T	0.35201	-0.9798	10	0.02654	T	1	-4.1259	11.0057	0.47633	0.0:0.0:0.156:0.844	.	152;202	Q9H2T7;B4DQG2	RBP17_HUMAN;.	K	152	ENSP00000427975:I152K	ENSP00000373770:I152K	I	+	2	0	RANBP17	170255663	0.998000	0.40836	0.997000	0.53966	0.968000	0.65278	3.161000	0.50747	2.072000	0.62099	0.460000	0.39030	ATA		0.388	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1	NM_022897		A	170323085	T	A	170323085	3	1	662	1	0	0	0	0	1	0	0	0	13033	1406	49	5	473	5	RANBP17	5	170323085	Missense_Mutation	SNP	T	TCGA-GL-8500-01A-11D-2396-08	32418352	170323085	10592175	24	36060											
SLC17A4	10050	hgsc.bcm.edu	37	6	25773825	25773825	+	Missense_Mutation	SNP	G	G	A			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr6:25773825G>A	ENST00000377905.4	+	8	1029	c.910G>A	c.(910-912)Gaa>Aaa	p.E304K	SLC17A4_ENST00000397076.2_Missense_Mutation_p.E74K|SLC17A4_ENST00000439485.2_Intron	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	304					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						TTATTTCTGTGAATACTGGCT	0.443																																																0													163	144	150					6																	25773825		2203	4300	6503	SO:0001583	missense	10050			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.910G>A	chr6.hg19:g.25773825G>A	ENSP00000367137:p.Glu304Lys		B4DDV9|E7EPE8|E7EU17|Q32MB7|Q32MB8	Missense_Mutation	SNP	ENST00000377905.4	hg19	CCDS4564.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.468242	0.63625	.	.	ENSG00000146039	ENST00000377905;ENST00000397076	T;T	0.58797	0.41;0.31	5.34	0.672	0.17935	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.890844	0.09592	N	0.781378	T	0.40645	0.1125	M	0.73598	2.24	0.09310	N	1	P;B	0.38048	0.616;0.082	B;B	0.40901	0.343;0.158	T	0.40365	-0.9567	10	0.54805	T	0.06	.	7.4701	0.27344	0.1347:0.4004:0.4649:0.0	.	74;304	E7EU17;Q9Y2C5	.;S17A4_HUMAN	K	304;74	ENSP00000367137:E304K;ENSP00000380266:E74K	ENSP00000367137:E304K	E	+	1	0	SLC17A4	25881804	0.000000	0.05858	0.079000	0.20413	0.976000	0.68499	-0.078000	0.11375	0.167000	0.19631	0.655000	0.94253	GAA		0.443	SLC17A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040068.1			A	25773825	G	A	25773825	3	1	662	1	0	0	0	0	1	0	0	0	14425	1291	45	2	936	2	SLC17A4	6	25773825	Missense_Mutation	SNP	G	TCGA-GL-8500-01A-11D-2396-08		25773825	145341242	25	36061											
MUC21	394263	hgsc.bcm.edu	37	6	30955264	30955264	+	Missense_Mutation	SNP	T	T	A			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr6:30955264T>A	ENST00000376296.3	+	2	1553	c.1312T>A	c.(1312-1314)Tct>Act	p.S438T	MUC21_ENST00000486149.2_De_novo_Start_OutOfFrame	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	438	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						AGCCACCAACTCTGGGTCCAG	0.577																																																0													124	120	122					6																	30955264		2203	4300	6503	SO:0001583	missense	394263			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.1312T>A	chr6.hg19:g.30955264T>A	ENSP00000365473:p.Ser438Thr		B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	ENST00000376296.3	hg19	CCDS34388.1	.	.	.	.	.	.	.	.	.	.	t	7.419	0.636395	0.14386	.	.	ENSG00000204544	ENST00000450707;ENST00000376296	T	0.02015	4.5	3.96	-1.72	0.08107	.	.	.	.	.	T	0.00328	0.0010	N	0.12746	0.255	0.09310	N	1	B	0.15473	0.013	B	0.17722	0.019	T	0.42275	-0.9461	9	0.07325	T	0.83	0.2489	4.0719	0.09885	0.5071:0.2625:0.0:0.2303	.	438	Q5SSG8	MUC21_HUMAN	T	288;438	ENSP00000365473:S438T	ENSP00000365473:S438T	S	+	1	0	MUC21	31063243	0.002000	0.14202	0.000000	0.03702	0.004000	0.04260	0.031000	0.13710	-0.390000	0.07774	-0.468000	0.05107	TCT		0.577	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		A	30955264	T	A	30955264	3	1	662	1	0	0	0	0	1	0	0	0	9979	1551	54	5	1318	5	MUC21	6	30955264	Missense_Mutation	SNP	T	TCGA-GL-8500-01A-11D-2396-08	5181439	30955264	140159803	26	36062											
MCM3	4172	hgsc.bcm.edu	37	6	52141973	52141973	+	Missense_Mutation	SNP	G	G	C			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr6:52141973G>C	ENST00000229854.7	-	8	1133	c.1057C>G	c.(1057-1059)Cag>Gag	p.Q353E	MCM3_ENST00000476448.1_5'UTR|MCM3_ENST00000596288.1_Missense_Mutation_p.Q398E|MCM3_ENST00000419835.2_Missense_Mutation_p.Q307E			P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	353	MCM.				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)	alpha DNA polymerase:primase complex (GO:0005658)|centrosome (GO:0005813)|intracellular membrane-bounded organelle (GO:0043231)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.Q353K(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					CGCAGAAGCTGAGACTTGGCA	0.597																																																1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											60	58	59					6																	52141973		2203	4300	6503	SO:0001583	missense	4172			X62153	CCDS4940.1, CCDS4940.2, CCDS75468.1	6p12	2008-02-05	2007-04-04		ENSG00000112118	ENSG00000112118			6945	protein-coding gene	gene with protein product		602693	"minichromosome maintenance deficient (S. cerevisiae) 3", "MCM3 minichromosome maintenance deficient 3 (S. cerevisiae)"			1549468	Standard	NM_002388		Approved		uc011dwu.2	P25205	OTTHUMG00000014844	ENST00000229854.7:c.1057C>G	chr6.hg19:g.52141973G>C	ENSP00000229854:p.Gln353Glu		B4DWW4|Q92660|Q9BTR3|Q9NUE7	Missense_Mutation	SNP	ENST00000229854.7	hg19		.	.	.	.	.	.	.	.	.	.	G	32	5.114750	0.94339	.	.	ENSG00000112118	ENST00000229854;ENST00000419835	T;T	0.10960	2.82;2.82	5.36	5.36	0.76844	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.44726	0.1307	H	0.97131	3.945	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.63510	-0.6621	10	0.87932	D	0	-17.9504	19.2924	0.94105	0.0:0.0:1.0:0.0	.	307;353	B4DUQ9;P25205	.;MCM3_HUMAN	E	353;307	ENSP00000229854:Q353E;ENSP00000388647:Q307E	ENSP00000229854:Q353E	Q	-	1	0	MCM3	52249932	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.657000	0.98554	2.783000	0.95769	0.655000	0.94253	CAG		0.597	MCM3-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470784.1			C	52141973	G	C	52141973	3	2	662	1	0	0	0	0	1	0	0	0	9389	1299	45	4	1409	4	MCM3	6	52141973	Missense_Mutation	SNP	G	TCGA-GL-8500-01A-11D-2396-08	21186709	52141973	118973094	27	36063											
FERD3L	222894	hgsc.bcm.edu	37	7	19184646	19184646	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr7:19184646delT	ENST00000275461.3	-	1	398	c.340delA	c.(340-342)atgfs	p.M114fs	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	114	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell development (GO:0048468)|floor plate development (GO:0033504)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurogenesis (GO:0050767)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						AGGTTGAACATCCGCTTCCTT	0.612																																																0													103	83	90					7																	19184646		2203	4300	6503	SO:0001589	frameshift_variant	222894			AF369897	CCDS5368.1	7p21.3	2013-10-17	2013-10-17		ENSG00000146618	ENSG00000146618		"Basic helix-loop-helix proteins"	16660	protein-coding gene	gene with protein product			"Fer3-like (Drosophila)"			11472856, 12217327	Standard	NM_152898		Approved	NATO3, N-TWIST, bHLHa31	uc003suo.1	Q96RJ6	OTTHUMG00000090823	ENST00000275461.3:c.340delA	chr7.hg19:g.19184646delT	ENSP00000275461:p.Met114fs		Q495K0	Frame_Shift_Del	DEL	ENST00000275461.3	hg19	CCDS5368.1																																																																																				0.612	FERD3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207627.1			-	19184646	T	-	19184646	7	5	662	1	0	1	0	1	0	0	0	0	5818	1435	50	0	164	0	FERD3L	7	19184646	Frame_Shift_Del	DEL	T	TCGA-GL-8500-01A-11D-2396-08		19184646	139954017	28	36064											
SEMA3D	223117	hgsc.bcm.edu	37	7	84636164	84636164	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr7:84636164delG	ENST00000284136.6	-	16	1905	c.1862delC	c.(1861-1863)actfs	p.T621fs	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	621	Ig-like C2-type.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						CCATTTAATAGTTGCTTGTTG	0.388																																					Ovarian(63;442 1191 17318 29975 31528)											0													214	198	203					7																	84636164		2203	4300	6503	SO:0001589	frameshift_variant	223117			BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"Semaphorins", "Immunoglobulin superfamily / V-set domain containing"	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.1862delC	chr7.hg19:g.84636164delG	ENSP00000284136:p.Thr621fs		A6NK46|Q6UW77|Q8NCQ1	Frame_Shift_Del	DEL	ENST00000284136.6	hg19	CCDS34676.1																																																																																				0.388	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754		-	84636164	G	-	84636164	7	5	662	1	0	1	0	1	0	0	0	0	14033	1029	36	0	479	0	SEMA3D	7	84636164	Frame_Shift_Del	DEL	G	TCGA-GL-8500-01A-11D-2396-08	65451518	84636164	74502499	29	36065											
KIAA1549	57670	hgsc.bcm.edu	37	7	138597164	138597164	+	Missense_Mutation	SNP	A	A	C			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr7:138597164A>C	ENST00000422774.1	-	3	2969	c.2921T>G	c.(2920-2922)aTc>aGc	p.I974S	KIAA1549_ENST00000242365.4_Missense_Mutation_p.I924S|KIAA1549_ENST00000440172.1_Missense_Mutation_p.I974S			Q9HCM3	K1549_HUMAN	KIAA1549	974						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TACTTCTTTGATTGCTGTAAT	0.463			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)		Dom	yes		7	7q34	57670	KIAA1549		O	0													149	145	146					7																	138597164		2032	4201	6233	SO:0001583	missense	57670				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.2921T>G	chr7.hg19:g.138597164A>C	ENSP00000416040:p.Ile974Ser		B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	hg19	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.284165	0.80803	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.32515	1.45;1.46;1.46	5.38	5.38	0.77491	.	0.071830	0.56097	D	0.000028	T	0.45994	0.1370	L	0.36672	1.1	0.51482	D	0.999929	D;D	0.89917	1.0;1.0	D;D	0.77004	0.975;0.989	T	0.44544	-0.9321	10	0.87932	D	0	.	14.7359	0.69414	1.0:0.0:0.0:0.0	.	974;974	Q9HCM3;Q9HCM3-2	K1549_HUMAN;.	S	974;924;974	ENSP00000406661:I974S;ENSP00000242365:I924S;ENSP00000416040:I974S	ENSP00000242365:I924S	I	-	2	0	KIAA1549	138247704	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	7.162000	0.77515	2.254000	0.74563	0.533000	0.62120	ATC		0.463	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			C	138597164	A	C	138597164	3	2	662	1	0	0	0	0	1	0	0	0	8246	333	12	5	3003	5	KIAA1549	7	138597164	Missense_Mutation	SNP	A	TCGA-GL-8500-01A-11D-2396-08	53961000	138597164	20541499	30	36066											
ATP6V0E2	155066	hgsc.bcm.edu	37	7	149576654	149576654	+	3'UTR	SNP	C	C	G			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr7:149576654C>G	ENST00000425642.2	+	0	519				ATP6V0E2_ENST00000479613.1_Missense_Mutation_p.P151R|ATP6V0E2_ENST00000421974.2_Missense_Mutation_p.P177R|RP11-445N20.3_ENST00000608912.1_lincRNA|ATP6V0E2_ENST00000456496.2_3'UTR|ATP6V0E2_ENST00000606024.1_Missense_Mutation_p.P128R|ATP6V0E2-AS1_ENST00000464939.1_RNA			Q8NHE4	VA0E2_HUMAN	ATPase, H+ transporting V0 subunit e2						ATP hydrolysis coupled proton transport (GO:0015991)|cell growth (GO:0016049)|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)|vacuolar acidification (GO:0007035)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)	ATPase activity, coupled to transmembrane movement of ions (GO:0042625)|hydrogen ion transmembrane transporter activity (GO:0015078)			lung(1)	1			OV - Ovarian serous cystadenocarcinoma(82;0.00256)			CTCCAATACCCGCACTGCTCT	0.637																																																0													61	69	66					7																	149576654		1987	4159	6146	SO:0001624	3_prime_UTR_variant	155066			AK057700	CCDS47742.1, CCDS55181.1	7q36.1	2010-04-21	2006-10-12	2006-10-12	ENSG00000171130	ENSG00000171130		"ATPases / V-type"	21723	protein-coding gene	gene with protein product		611019	"chromosome 7 open reading frame 32", "ATPase, H+ transporting V0 subunit E isoform 2-like (rat)"	C7orf32, ATP6V0E2L			Standard	XM_005249958		Approved		uc003wgs.3	Q8NHE4	OTTHUMG00000158094	ENST00000425642.2:c.*250C>G	chr7.hg19:g.149576654C>G			A2T863|A2T8L7|B5MDP5|J3KQW7|Q6MZW1|Q75L47|Q7Z4R7|Q8N7I8	Missense_Mutation	SNP	ENST00000425642.2	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	12.45|12.45	1.941217|1.941217	0.34283|0.34283	.|.	.|.	ENSG00000171130|ENSG00000171130	ENST00000421974;ENST00000425642;ENST00000479613|ENST00000307445	.|.	.|.	.|.	2.78|2.78	1.89|1.89	0.25635|0.25635	.|.	.|.	.|.	.|.	.|.	T|T	0.19725|0.19725	0.0474|0.0474	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	P;P|.	0.44090|.	0.826;0.742|.	B;B|.	0.37422|.	0.249;0.238|.	T|T	0.19160|0.19160	-1.0314|-1.0314	8|6	0.72032|0.87932	D|D	0.01|0	.|.	5.6822|5.6822	0.17782|0.17782	0.0:0.8483:0.0:0.1517|0.0:0.8483:0.0:0.1517	.|.	177;151|.	E9PAS2;Q8NHE4-3|.	.;.|.	R|G	177;128;151|96	.|.	ENSP00000411672:P177R|ENSP00000304519:R96G	P|R	+|+	2|1	0|0	ATP6V0E2|ATP6V0E2	149207587|149207587	0.000000|0.000000	0.05858|0.05858	0.003000|0.003000	0.11579|0.11579	0.005000|0.005000	0.04900|0.04900	0.044000|0.044000	0.13992|0.13992	0.750000|0.750000	0.32877|0.32877	0.467000|0.467000	0.42956|0.42956	CCG|CGC		0.637	ATP6V0E2-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470874.1	NM_145230		G	149576654	C	G	149576654	1	3	662	0	1	0	0	0	0	0	0	0	1176	652	23	4		4	ATP6V0E2	7	149576654	3'UTR	SNP	C	TCGA-GL-8500-01A-11D-2396-08	10979490	149576654	9562009	31	36067											
NEIL2	252969	hgsc.bcm.edu	37	8	11637150	11637150	+	Frame_Shift_Del	DEL	A	A	-			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr8:11637150delA	ENST00000284503.6	+	3	781	c.182delA	c.(181-183)gaafs	p.E61fs	NEIL2_ENST00000403422.3_5'UTR|NEIL2_ENST00000455213.2_Frame_Shift_Del_p.E61fs|NEIL2_ENST00000528323.1_Intron|NEIL2_ENST00000436750.3_Frame_Shift_Del_p.E61fs	NM_145043.2	NP_659480.1	Q969S2	NEIL2_HUMAN	nei endonuclease VIII-like 2 (E. coli)	61					base-excision repair (GO:0006284)|nucleotide-excision repair (GO:0006289)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	damaged DNA binding (GO:0003684)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	all_epithelial(15;0.103)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)		CTAGATGAAGAAATGGGGCCC	0.527								Base excision repair (BER), DNA glycosylases																																								0													59	75	70					8																	11637150		2203	4300	6503	SO:0001589	frameshift_variant	252969			AK056206	CCDS5984.1, CCDS47802.1, CCDS47803.1	8p23.1	2010-04-27	2010-04-27		ENSG00000154328	ENSG00000154328			18956	protein-coding gene	gene with protein product		608933	"nei like 2 (E. coli)"			12097317, 17686777	Standard	NM_145043		Approved	NEH2, FLJ31644, MGC2832, MGC4505	uc003wue.2	Q969S2	OTTHUMG00000090753	ENST00000284503.6:c.182delA	chr8.hg19:g.11637150delA	ENSP00000284503:p.Glu61fs		B4DFR7|Q7Z3Q7|Q8N842|Q8NG52	Frame_Shift_Del	DEL	ENST00000284503.6	hg19	CCDS5984.1																																																																																				0.527	NEIL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207583.3	NM_145043		-	11637150	A	-	11637150	7	5	662	1	0	1	0	1	0	0	0	0	10321	246	9	0	193	0	NEIL2	8	11637150	Frame_Shift_Del	DEL	A	TCGA-GL-8500-01A-11D-2396-08		11637150	134726872	32	36068											
LYN	4067	hgsc.bcm.edu	37	8	56922610	56922610	+	Missense_Mutation	SNP	C	C	A			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr8:56922610C>A	ENST00000519728.1	+	13	1776	c.1480C>A	c.(1480-1482)Cag>Aag	p.Q494K	LYN_ENST00000520220.2_Missense_Mutation_p.Q473K	NM_002350.3	NP_002341.1	P07948	LYN_HUMAN	LYN proto-oncogene, Src family tyrosine kinase	494	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to heat (GO:0034605)|cellular response to retinoic acid (GO:0071300)|cytokine secretion (GO:0050663)|dendritic cell differentiation (GO:0097028)|erythrocyte differentiation (GO:0030218)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|Fc receptor mediated stimulatory signaling pathway (GO:0002431)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|histamine secretion by mast cell (GO:0002553)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of immune response (GO:0050777)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell proliferation (GO:0070667)|negative regulation of myeloid leukocyte differentiation (GO:0002762)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|neuron projection development (GO:0031175)|oligodendrocyte development (GO:0014003)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oligodendrocyte progenitor proliferation (GO:0070447)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of stress-activated protein kinase signaling cascade (GO:0070304)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cytokine production (GO:0001817)|regulation of cytokine secretion (GO:0050707)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of erythrocyte differentiation (GO:0045646)|regulation of inflammatory response (GO:0050727)|regulation of mast cell activation (GO:0033003)|regulation of mast cell degranulation (GO:0043304)|regulation of monocyte chemotaxis (GO:0090025)|regulation of platelet aggregation (GO:0090330)|regulation of protein phosphorylation (GO:0001932)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to carbohydrate (GO:0009743)|response to drug (GO:0042493)|response to hormone (GO:0009725)|response to insulin (GO:0032868)|response to organic cyclic compound (GO:0014070)|response to sterol depletion (GO:0006991)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|T cell costimulation (GO:0031295)|tolerance induction to self antigen (GO:0002513)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integrin alpha2-beta1 complex (GO:0034666)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycosphingolipid binding (GO:0043208)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)		Bosutinib(DB06616)|Ponatinib(DB08901)	TGACTACTTACAGAGCGTCCT	0.527																																																0													102	94	96					8																	56922610		2203	4300	6503	SO:0001583	missense	4067			M16038	CCDS6162.1, CCDS47859.1	8q13	2014-06-25	2014-06-25		ENSG00000254087	ENSG00000254087		"SH2 domain containing"	6735	protein-coding gene	gene with protein product		165120	"v-yes-1 Yamaguchi sarcoma viral related oncogene homolog"			3561390	Standard	NM_002350		Approved	JTK8	uc003xsk.4	P07948	OTTHUMG00000044345	ENST00000519728.1:c.1480C>A	chr8.hg19:g.56922610C>A	ENSP00000428924:p.Gln494Lys		A0AVQ5	Missense_Mutation	SNP	ENST00000519728.1	hg19	CCDS6162.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.672813	0.88445	.	.	ENSG00000254087	ENST00000519728;ENST00000520220	T;T	0.10573	2.86;2.86	5.95	5.95	0.96441	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	0.13500	0.0327	N	0.12422	0.21	0.80722	D	1	P;P	0.41265	0.744;0.59	P;B	0.48189	0.57;0.415	T	0.08106	-1.0738	10	0.54805	T	0.06	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	564;494	Q6NUK7;P07948	.;LYN_HUMAN	K	494;473	ENSP00000428924:Q494K;ENSP00000428424:Q473K	ENSP00000428924:Q494K	Q	+	1	0	LYN	57085164	1.000000	0.71417	0.967000	0.41034	0.879000	0.50718	7.818000	0.86416	2.824000	0.97209	0.655000	0.94253	CAG		0.527	LYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378155.1	NM_002350		A	56922610	C	A	56922610	3	1	662	1	0	0	0	0	1	0	0	0	9109	479	17	4	1526	4	LYN	8	56922610	Missense_Mutation	SNP	C	TCGA-GL-8500-01A-11D-2396-08	45285460	56922610	89441412	33	36069											
GEM	2669	hgsc.bcm.edu	37	8	95262646	95262646	+	Silent	SNP	G	G	A			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr8:95262646G>A	ENST00000297596.2	-	5	1047	c.783C>T	c.(781-783)agC>agT	p.S261S	GEM_ENST00000396194.2_Silent_p.S261S	NM_005261.3	NP_005252.1	P55040	GEM_HUMAN	GTP binding protein overexpressed in skeletal muscle	261					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)			TCCTGGGCATGCTCTCCTTCC	0.552																																					GBM(125;80 1653 28655 32188 47338)|Esophageal Squamous(19;97 579 13602 49091 51766)											0													96	87	90					8																	95262646		2203	4300	6503	SO:0001819	synonymous_variant	2669				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.783C>T	chr8.hg19:g.95262646G>A			B2RA31	Silent	SNP	ENST00000297596.2	hg19	CCDS6261.1																																																																																				0.552	GEM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378566.1	NM_181702		A	95262646	G	A	95262646	2	1	662	1	0	0	0	0	0	0	0	1	6331	1310	46	2		2	GEM	8	95262646	Silent	SNP	G	TCGA-GL-8500-01A-11D-2396-08	38340036	95262646	51101376	34	36070											
RAD54B	25788	hgsc.bcm.edu	37	8	95419720	95419720	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr8:95419720delT	ENST00000336148.5	-	5	852	c.728delA	c.(727-729)aatfs	p.N243fs		NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	243					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)			ATTCTGTCTATTTTCCTTTGA	0.353								Direct reversal of damage;Homologous recombination																																								0													79	78	79					8																	95419720		2203	4300	6503	SO:0001589	frameshift_variant	25788			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.728delA	chr8.hg19:g.95419720delT	ENSP00000336606:p.Asn243fs		F6WBS8	Frame_Shift_Del	DEL	ENST00000336148.5	hg19	CCDS6262.1																																																																																				0.353	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257806.3	NM_012415		-	95419720	T	-	95419720	7	5	662	1	0	1	0	1	0	0	0	0	12998	1493	52	0	2048	0	RAD54B	8	95419720	Frame_Shift_Del	DEL	T	TCGA-GL-8500-01A-11D-2396-08	157074	95419720	50944302	35	36071											
BNC2	54796	hgsc.bcm.edu	37	9	16552664	16552664	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr9:16552664C>T	ENST00000380672.4	-	5	590	c.533G>A	c.(532-534)gGg>gAg	p.G178E	BNC2_ENST00000380667.2_Missense_Mutation_p.G111E|BNC2_ENST00000380666.2_Missense_Mutation_p.G178E|BNC2_ENST00000545497.1_Missense_Mutation_p.G83E	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)		TGCTTGTGTCCCATAGAGCAT	0.567																																																0													138	106	117					9																	16552664		2203	4300	6503	SO:0001583	missense	54796			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.533G>A	chr9.hg19:g.16552664C>T	ENSP00000370047:p.Gly178Glu			Missense_Mutation	SNP	ENST00000380672.4	hg19	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	C	25.1	4.601586	0.87055	.	.	ENSG00000173068	ENST00000380672;ENST00000418777;ENST00000456672;ENST00000436939;ENST00000380667;ENST00000545497;ENST00000544198;ENST00000380666;ENST00000540340;ENST00000451290	T;T;T;T;T	0.03580	3.88;3.88;3.88;3.88;3.88	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.20861	0.0502	M	0.76328	2.33	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;0.999;0.999;1.0;0.998;0.999	T	0.00010	-1.2450	10	0.87932	D	0	-18.731	20.4366	0.99092	0.0:1.0:0.0:0.0	.	83;111;215;178;4;136;178	F5H586;B1APH0;Q06HC4;Q6ZN30-2;B4E3J2;Q5H9S4;Q6ZN30	.;.;.;.;.;.;BNC2_HUMAN	E	178;135;215;206;111;83;4;178;178;101	ENSP00000370047:G178E;ENSP00000408370:G135E;ENSP00000370042:G111E;ENSP00000444640:G83E;ENSP00000370041:G178E	ENSP00000370041:G178E	G	-	2	0	BNC2	16542664	1.000000	0.71417	0.969000	0.41365	0.352000	0.29268	7.818000	0.86416	2.837000	0.97791	0.591000	0.81541	GGG		0.567	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		T	16552664	C	T	16552664	3	4	662	1	0	0	0	0	1	0	0	0	1475	623	22	2	2778	2	BNC2	9	16552664	Missense_Mutation	SNP	C	TCGA-GL-8500-01A-11D-2396-08		16552664	124660767	36	36072											
OR13J1	392309	hgsc.bcm.edu	37	9	35869823	35869823	+	Silent	SNP	C	C	T			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr9:35869823C>T	ENST00000377981.2	-	1	638	c.576G>A	c.(574-576)acG>acA	p.T192T		NM_001004487.1	NP_001004487.1	Q8NGT2	O13J1_HUMAN	olfactory receptor, family 13, subfamily J, 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)			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)			CGCTGACCGACGTGTTGCCGC	0.597																																																0													69	57	61					9																	35869823		2203	4300	6503	SO:0001819	synonymous_variant	392309				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.576G>A	chr9.hg19:g.35869823C>T			B2RN66|Q6IF20|Q96R40	Silent	SNP	ENST00000377981.2	hg19	CCDS35011.1																																																																																				0.597	OR13J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052381.1			T	35869823	C	T	35869823	2	4	662	1	0	0	0	0	0	0	0	1	10946	523	19	1		1	OR13J1	9	35869823	Silent	SNP	C	TCGA-GL-8500-01A-11D-2396-08	19317159	35869823	105343608	37	36073											
SECISBP2	79048	hgsc.bcm.edu	37	9	91965762	91965762	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr9:91965762C>T	ENST00000375807.3	+	14	2179	c.2108C>T	c.(2107-2109)tCa>tTa	p.S703L	SECISBP2_ENST00000339901.4_Missense_Mutation_p.S630L|SECISBP2_ENST00000534113.2_Missense_Mutation_p.S635L	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	703					translation (GO:0006412)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						AAGATACAGTCAAAAGGTAAA	0.498																																																0													68	69	69					9																	91965762		2203	4300	6503	SO:0001583	missense	79048			AF380995	CCDS6683.1, CCDS65076.1, CCDS65077.1	9q22	2008-02-05			ENSG00000187742	ENSG00000187742			30972	protein-coding gene	gene with protein product		607693				11230166	Standard	XM_005252193		Approved		uc004aqj.1	Q96T21	OTTHUMG00000020182	ENST00000375807.3:c.2108C>T	chr9.hg19:g.91965762C>T	ENSP00000364965:p.Ser703Leu		F8W892|Q5HYY1|Q8IYC0|Q9H0A1	Missense_Mutation	SNP	ENST00000375807.3	hg19	CCDS6683.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.299315	0.81136	.	.	ENSG00000187742	ENST00000375807;ENST00000395669;ENST00000339901;ENST00000534113	T;T;T	0.57273	0.41;0.41;0.41	4.84	4.84	0.62591	Ribosomal protein L7Ae/L30e/S12e/Gadd45 (1);	0.000000	0.85682	D	0.000000	T	0.69342	0.3100	L	0.52905	1.665	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.998	T	0.70695	-0.4801	10	0.59425	D	0.04	-12.0495	18.4955	0.90864	0.0:1.0:0.0:0.0	.	710;630;703	Q59H19;Q96T21-2;Q96T21	.;.;SEBP2_HUMAN	L	703;709;630;635	ENSP00000364965:S703L;ENSP00000364959:S630L;ENSP00000436650:S635L	ENSP00000364959:S630L	S	+	2	0	SECISBP2	91155582	1.000000	0.71417	0.991000	0.47740	0.546000	0.35178	7.314000	0.78988	2.686000	0.91538	0.561000	0.74099	TCA		0.498	SECISBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052990.3	NM_024077		T	91965762	C	T	91965762	3	4	662	1	0	0	0	0	1	0	0	0	14012	838	29	2	2162	2	SECISBP2	9	91965762	Missense_Mutation	SNP	C	TCGA-GL-8500-01A-11D-2396-08	56095939	91965762	49247669	38	36074											
RAD23B	5887	hgsc.bcm.edu	37	9	110091836	110091836	+	Missense_Mutation	SNP	G	G	A			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr9:110091836G>A	ENST00000358015.3	+	10	1480	c.1129G>A	c.(1129-1131)Gga>Aga	p.G377R	RAD23B_ENST00000416373.2_Missense_Mutation_p.G305R	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN	RAD23 homolog B (S. cerevisiae)	377	UBA 2. {ECO:0000255|PROSITE- ProRule:PRU00212}.				DNA repair (GO:0006281)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|XPC complex (GO:0071942)	damaged DNA binding (GO:0003684)|polyubiquitin binding (GO:0031593)|single-stranded DNA binding (GO:0003697)			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						AAAGGCATTAGGATTTCCTGA	0.328								Direct reversal of damage;Nucleotide excision repair (NER)																																								0													71	73	72					9																	110091836		2203	4300	6503	SO:0001583	missense	5887				CCDS6769.1, CCDS59138.1	9q31.2	2008-07-21	2001-11-28		ENSG00000119318	ENSG00000119318			9813	protein-coding gene	gene with protein product	"XP-C repair complementing protein", "XP-C repair complementing complex 58 kDa"	600062	"RAD23 (S. cerevisiae) homolog B"			7851894, 8168482	Standard	NM_002874		Approved	HHR23B, P58, HR23B	uc004bde.3	P54727	OTTHUMG00000020446	ENST00000358015.3:c.1129G>A	chr9.hg19:g.110091836G>A	ENSP00000350708:p.Gly377Arg		B3KWK8|G5E9P0|Q7Z5K8|Q8WUB0	Missense_Mutation	SNP	ENST00000358015.3	hg19	CCDS6769.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.086513	0.76642	.	.	ENSG00000119318	ENST00000358015;ENST00000416373	D;D	0.93019	-3.15;-3.15	5.27	5.27	0.74061	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (2);Ubiquitin-associated/translation elongation factor EF1B, N-terminal (1);UBA-like (1);	0.000000	0.85682	D	0.000000	D	0.97804	0.9279	H	0.94503	3.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.994	D	0.98693	1.0697	10	0.87932	D	0	-3.6232	19.2454	0.93901	0.0:0.0:1.0:0.0	.	356;377	B7Z4W4;P54727	.;RD23B_HUMAN	R	377;305	ENSP00000350708:G377R;ENSP00000405623:G305R	ENSP00000350708:G377R	G	+	1	0	RAD23B	109131657	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.439000	0.97543	2.623000	0.88846	0.563000	0.77884	GGA		0.328	RAD23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053548.1	NM_002874		A	110091836	G	A	110091836	3	1	662	1	0	0	0	0	1	0	0	0	12989	1001	35	2	1167	2	RAD23B	9	110091836	Missense_Mutation	SNP	G	TCGA-GL-8500-01A-11D-2396-08	18126074	110091836	31121595	39	36075											
RABGAP1	23637	hgsc.bcm.edu	37	9	125751642	125751642	+	Silent	SNP	C	C	T			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr9:125751642C>T	ENST00000373647.4	+	5	791	c.657C>T	c.(655-657)gtC>gtT	p.V219V		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	219	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cell cycle (GO:0007049)|positive regulation of GTPase activity (GO:0043547)|regulation of GTP catabolic process (GO:0033124)	centrosome (GO:0005813)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)	DNA binding (GO:0003677)|GTPase activator activity (GO:0005096)|Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)|tubulin binding (GO:0015631)			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						TCTTCTGTGTCAGAGGGCATG	0.413																																																0													117	115	116					9																	125751642		2203	4300	6503	SO:0001819	synonymous_variant	23637			AJ011679	CCDS6848.2	9q34.11	2013-07-09			ENSG00000011454	ENSG00000011454			17155	protein-coding gene	gene with protein product	"rab6 GTPase activating protein (GAP and centrosome-associated)", "TBC1 domain family, member 11"	615882				10202141	Standard	NM_012197		Approved	GAPCenA, TBC1D11	uc011lzh.2	Q9Y3P9	OTTHUMG00000020633	ENST00000373647.4:c.657C>T	chr9.hg19:g.125751642C>T			B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Silent	SNP	ENST00000373647.4	hg19	CCDS6848.2																																																																																				0.413	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053976.3	NM_012197		T	125751642	C	T	125751642	2	4	662	1	0	0	0	0	0	0	0	1	12970	813	29	2		2	RABGAP1	9	125751642	Silent	SNP	C	TCGA-GL-8500-01A-11D-2396-08	15659806	125751642	15461789	40	36076											
MLLT10	8028	hgsc.bcm.edu	37	10	22022934	22022934	+	Missense_Mutation	SNP	A	A	T			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr10:22022934A>T	ENST00000307729.7	+	20	2912	c.2734A>T	c.(2734-2736)Att>Ttt	p.I912F	MLLT10_ENST00000377072.3_Missense_Mutation_p.I928F|MLLT10_ENST00000446906.2_Missense_Mutation_p.I912F|MLLT10_ENST00000377059.3_Missense_Mutation_p.I912F			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	912					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						AATTAATGGCATTGTAGGAGC	0.498			T	"MLL, PICALM, CDK6"	AL																																		Dom	yes		10	10p12	8028	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"		L	0													105	92	96					10																	22022934		2203	4300	6503	SO:0001583	missense	8028			U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"Zinc fingers, PHD-type"	16063	protein-coding gene	gene with protein product		602409	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.2734A>T	chr10.hg19:g.22022934A>T	ENSP00000307411:p.Ile912Phe		B1ANA8|Q5JT37|Q5VX90|Q66K63	Missense_Mutation	SNP	ENST00000307729.7	hg19	CCDS55708.1	.	.	.	.	.	.	.	.	.	.	A	17.10	3.302680	0.60195	.	.	ENSG00000078403	ENST00000377072;ENST00000446906;ENST00000307729;ENST00000396529;ENST00000377059	T;T;T;T	0.19938	2.21;2.22;2.11;2.22	4.55	4.55	0.56014	.	0.178156	0.48767	D	0.000174	T	0.33731	0.0873	L	0.55481	1.735	0.58432	D	0.999998	D;P;D;P	0.65815	0.96;0.745;0.995;0.883	P;B;P;B	0.56163	0.59;0.169;0.793;0.231	T	0.06954	-1.0798	10	0.56958	D	0.05	.	12.4706	0.55785	1.0:0.0:0.0:0.0	.	607;912;912;928	Q5HYC6;E9PBP4;Q5VX90;P55197	.;.;.;AF10_HUMAN	F	928;912;912;747;912	ENSP00000366272:I928F;ENSP00000401406:I912F;ENSP00000307411:I912F;ENSP00000366258:I912F	ENSP00000307411:I912F	I	+	1	0	MLLT10	22062940	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.644000	0.67902	1.686000	0.51046	0.455000	0.32223	ATT		0.498	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047136.1			T	22022934	A	T	22022934	3	4	662	1	0	0	0	0	1	0	0	0	9628	217	8	5	2860	5	MLLT10	10	22022934	Missense_Mutation	SNP	A	TCGA-GL-8500-01A-11D-2396-08		22022934	113511813	41	36077											
ANXA11	311	hgsc.bcm.edu	37	10	81927005	81927005	+	Missense_Mutation	SNP	A	A	C			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr10:81927005A>C	ENST00000438331.1	-	7	1108	c.626T>G	c.(625-627)cTg>cGg	p.L209R	ANXA11_ENST00000265447.4_Missense_Mutation_p.L209R|ANXA11_ENST00000372231.3_Missense_Mutation_p.L209R|ANXA11_ENST00000537102.1_Missense_Mutation_p.L176R|ANXA11_ENST00000535999.1_Missense_Mutation_p.L209R|ANXA11_ENST00000422982.3_Missense_Mutation_p.L209R|ANXA11_ENST00000360615.4_Missense_Mutation_p.L209R	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	209					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)			GGCCTTCCGCAGGACCTCGGC	0.577																																																0													66	61	63					10																	81927005		2203	4300	6503	SO:0001583	missense	311			L19605	CCDS7364.1, CCDS60576.1	10q22.3	2005-11-09			ENSG00000122359	ENSG00000122359		"Annexins"	535	protein-coding gene	gene with protein product		602572		ANX11		7508441, 9503022	Standard	NM_001157		Approved		uc001kbt.1	P50995	OTTHUMG00000018604	ENST00000438331.1:c.626T>G	chr10.hg19:g.81927005A>C	ENSP00000398610:p.Leu209Arg		B4DVE7	Missense_Mutation	SNP	ENST00000438331.1	hg19	CCDS7364.1	.	.	.	.	.	.	.	.	.	.	.	26.1	4.707456	0.89018	.	.	ENSG00000122359	ENST00000372231;ENST00000422982;ENST00000438331;ENST00000372234;ENST00000360615;ENST00000265447;ENST00000535999;ENST00000424188;ENST00000537102	T;T;T;T;T;T;T	0.18338	2.22;2.22;2.22;2.22;2.22;2.22;2.22	5.31	5.31	0.75309	.	0.000000	0.64402	D	0.000001	T	0.61924	0.2386	H	0.99498	4.595	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.995;0.995	T	0.78922	-0.2013	10	0.87932	D	0	.	13.5153	0.61537	1.0:0.0:0.0:0.0	.	309;209;209	B7Z6L0;Q5T0G8;P50995	.;.;ANX11_HUMAN	R	209;209;209;209;209;209;209;116;176	ENSP00000361305:L209R;ENSP00000404412:L209R;ENSP00000398610:L209R;ENSP00000353827:L209R;ENSP00000265447:L209R;ENSP00000441748:L209R;ENSP00000441400:L176R	ENSP00000265447:L209R	L	-	2	0	ANXA11	81916985	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	8.792000	0.91856	2.151000	0.67156	0.459000	0.35465	CTG		0.577	ANXA11-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049044.1	NM_145869		C	81927005	A	C	81927005	3	2	662	1	0	0	0	0	1	0	0	0	716	188	7	5	935	5	ANXA11	10	81927005	Missense_Mutation	SNP	A	TCGA-GL-8500-01A-11D-2396-08	59904071	81927005	53607742	42	36078											
SLC35F2	54733	hgsc.bcm.edu	37	11	107677532	107677532	+	Missense_Mutation	SNP	A	A	C			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr11:107677532A>C	ENST00000525815.1	-	4	905	c.485T>G	c.(484-486)gTg>gGg	p.V162G	SLC35F2_ENST00000429869.1_Missense_Mutation_p.V162G|SLC35F2_ENST00000375682.4_Missense_Mutation_p.V115G|SLC35F2_ENST00000265836.7_Missense_Mutation_p.V14G|SLC35F2_ENST00000525071.1_Missense_Mutation_p.V162G	NM_017515.4	NP_059985.2	Q8IXU6	S35F2_HUMAN	solute carrier family 35, member F2	162					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)		GAAGTGGATCACTCTGTATCT	0.463																																																0													137	136	136					11																	107677532		1983	4179	6162	SO:0001583	missense	54733				CCDS41709.1	11q22.3	2013-05-22			ENSG00000110660	ENSG00000110660		"Solute carriers"	23615	protein-coding gene	gene with protein product						9119394	Standard	NM_017515		Approved	FLJ13018	uc001pjq.3	Q8IXU6	OTTHUMG00000166366	ENST00000525815.1:c.485T>G	chr11.hg19:g.107677532A>C	ENSP00000436785:p.Val162Gly		Q14963|Q5JPA8|Q6ZRQ3|Q9H947	Missense_Mutation	SNP	ENST00000525815.1	hg19	CCDS41709.1	.	.	.	.	.	.	.	.	.	.	A	16.47	3.133031	0.56828	.	.	ENSG00000110660	ENST00000525815;ENST00000525071;ENST00000265836;ENST00000375682;ENST00000429869	T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53	4.86	4.86	0.63082	.	0.341161	0.28140	N	0.016457	T	0.72211	0.3432	L	0.53249	1.67	0.50467	D	0.999875	P;P	0.42296	0.605;0.775	B;P	0.46208	0.405;0.507	T	0.75836	-0.3177	10	0.66056	D	0.02	.	14.4886	0.67634	1.0:0.0:0.0:0.0	.	162;162	E9PJD1;Q8IXU6	.;S35F2_HUMAN	G	162;162;14;115;162	ENSP00000436785:V162G;ENSP00000434307:V162G;ENSP00000364834:V115G;ENSP00000393571:V162G	ENSP00000265836:V14G	V	-	2	0	SLC35F2	107182742	1.000000	0.71417	1.000000	0.80357	0.534000	0.34807	3.837000	0.55820	1.824000	0.53156	0.533000	0.62120	GTG		0.463	SLC35F2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389417.1	NM_017515		C	107677532	A	C	107677532	3	2	662	1	0	0	0	0	1	0	0	0	14595	159	6	5	659	5	SLC35F2	11	107677532	Missense_Mutation	SNP	A	TCGA-GL-8500-01A-11D-2396-08		107677532	27328984	43	36079											
SIDT2	51092	hgsc.bcm.edu	37	11	117058116	117058118	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08	TTC	TTC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr11:117058116_117058118delTTC	ENST00000324225.4	+	11	1569_1571	c.1038_1040delTTC	c.(1036-1041)gattct>gat	p.S347del	SIDT2_ENST00000431081.2_In_Frame_Del_p.S351del	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	347					cell morphogenesis (GO:0000902)|dsRNA transport (GO:0033227)|glucose homeostasis (GO:0042593)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to glucose (GO:0009749)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell proliferation (GO:0044342)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	RNA transmembrane transporter activity (GO:0051033)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		TCCTGGCTGATTCTTTTCCTGGC	0.517																																																0																																										SO:0001651	inframe_deletion	51092			AF151799	CCDS31682.1	11q23.3	2008-02-05			ENSG00000149577	ENSG00000149577			24272	protein-coding gene	gene with protein product						10810093, 12975309	Standard	NM_001040455		Approved	CGI-40	uc001pqh.1	Q8NBJ9	OTTHUMG00000167065	ENST00000324225.4:c.1038_1040delTTC	chr11.hg19:g.117058116_117058118delTTC	ENSP00000314023:p.Ser347del		Q8NBY7|Q9Y357	In_Frame_Del	DEL	ENST00000324225.4	hg19	CCDS31682.1																																																																																				0.517	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392836.1	NM_015996		-	117058118	TTC	-	117058116	7	5	662	1	0	1	0	1	0	0	0	0	14309	1490	52	0	1080	0	SIDT2	11	117058116	In_Frame_Del	DEL	TTC	TCGA-GL-8500-01A-11D-2396-08	9380584	117058116	17948400	44	36080											
SLC6A12	6539	hgsc.bcm.edu	37	12	308019	308019	+	Missense_Mutation	SNP	A	A	T			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr12:308019A>T	ENST00000428720.1	-	8	1533	c.790T>A	c.(790-792)Tac>Aac	p.Y264N	SLC6A12_ENST00000397296.2_Missense_Mutation_p.Y264N|SLC6A12_ENST00000536824.1_Missense_Mutation_p.Y264N|SLC6A12_ENST00000359674.4_Missense_Mutation_p.Y264N|SLC6A12_ENST00000424061.2_Missense_Mutation_p.Y264N|SLC6A12_ENST00000538272.1_5'UTR	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	264					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)			ATGCCCTGGTAGGCTCCGGGA	0.562																																																0													143	119	127					12																	308019		2203	4300	6503	SO:0001583	missense	6539			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.790T>A	chr12.hg19:g.308019A>T	ENSP00000388184:p.Tyr264Asn		A0AV52|B2R992|D3DUN8	Missense_Mutation	SNP	ENST00000428720.1	hg19	CCDS8501.1	.	.	.	.	.	.	.	.	.	.	A	8.181	0.793882	0.16327	.	.	ENSG00000111181	ENST00000359674;ENST00000397296;ENST00000428720;ENST00000424061;ENST00000536824	T;T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83;-0.83	4.44	3.19	0.36642	.	0.450623	0.22962	N	0.053522	T	0.74245	0.3691	L	0.52905	1.665	0.09310	N	1	P	0.34800	0.469	P	0.48901	0.594	T	0.62163	-0.6912	10	0.28530	T	0.3	.	6.6378	0.22893	0.6374:0.2349:0.0:0.1277	.	264	P48065	S6A12_HUMAN	N	264	ENSP00000352702:Y264N;ENSP00000380464:Y264N;ENSP00000388184:Y264N;ENSP00000399136:Y264N;ENSP00000444268:Y264N	ENSP00000352702:Y264N	Y	-	1	0	SLC6A12	178280	0.021000	0.18746	0.919000	0.36401	0.166000	0.22503	0.594000	0.24014	1.762000	0.52044	0.533000	0.62120	TAC		0.562	SLC6A12-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206671.2	NM_003044		T	308019	A	T	308019	3	4	662	1	0	0	0	0	1	0	0	0	14681	420	15	5	1090	5	SLC6A12	12	308019	Missense_Mutation	SNP	A	TCGA-GL-8500-01A-11D-2396-08		308019	133543876	45	36081											
KDM5A	5927	hgsc.bcm.edu	37	12	401948	401948	+	Missense_Mutation	SNP	A	A	G			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr12:401948A>G	ENST00000399788.2	-	27	5205	c.4843T>C	c.(4843-4845)Tgc>Cgc	p.C1615R	KDM5A_ENST00000382815.4_Missense_Mutation_p.C1615R|KDM5A_ENST00000540838.1_5'UTR	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1615					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						GGCCTTTGGCAGTTCTGTGCT	0.468			T	NUP98	AML																																		Dom	yes		12	12p11	5927	"lysine (K)-specific demethylase 5A, JARID1A"		L	0													118	119	119					12																	401948		2033	4195	6228	SO:0001583	missense	5927				CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	9886	protein-coding gene	gene with protein product		180202	"retinoblastoma-binding protein 2", "Jumonji, AT rich interactive domain 1A (RBBP2-like)", "jumonji, AT rich interactive domain 1A"	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.4843T>C	chr12.hg19:g.401948A>G	ENSP00000382688:p.Cys1615Arg		A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	ENST00000399788.2	hg19	CCDS41736.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.219116	0.79464	.	.	ENSG00000073614	ENST00000399788;ENST00000382815	D;D	0.99667	-6.34;-3.28	5.48	5.48	0.80851	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.150326	0.64402	D	0.000005	D	0.99354	0.9773	L	0.59436	1.845	0.80722	D	1	D;D	0.64830	0.99;0.994	P;P	0.60682	0.758;0.878	D	0.98834	1.0752	10	0.87932	D	0	-9.1245	15.575	0.76368	1.0:0.0:0.0:0.0	.	1615;1615	P29375;P29375-2	KDM5A_HUMAN;.	R	1615	ENSP00000382688:C1615R;ENSP00000372265:C1615R	ENSP00000372265:C1615R	C	-	1	0	KDM5A	272209	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.313000	0.96297	2.080000	0.62538	0.528000	0.53228	TGC		0.468	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056		G	401948	A	G	401948	3	3	662	1	0	0	0	0	1	0	0	0	8135	188	7	3	237	3	KDM5A	12	401948	Missense_Mutation	SNP	A	TCGA-GL-8500-01A-11D-2396-08	93929	401948	133449947	46	36082											
C12orf5	57103	hgsc.bcm.edu	37	12	4461705	4461705	+	Missense_Mutation	SNP	C	C	G			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr12:4461705C>G	ENST00000179259.4	+	6	728	c.661C>G	c.(661-663)Ctg>Gtg	p.L221V		NM_020375.2	NP_065108.1	Q9NQ88	TIGAR_HUMAN	chromosome 12 open reading frame 5	221					intestinal epithelial cell development (GO:0060576)|negative regulation of macromitophagy (GO:1901525)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|response to gamma radiation (GO:0010332)|response to xenobiotic stimulus (GO:0009410)	intracellular (GO:0005622)	fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)			endometrium(1)|large_intestine(1)|lung(5)|skin(3)	10			all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206)			ACCAGCCACTCTGAGCAGATC	0.423																																					Colon(1;100 192 35375 49454 52532)											0													100	89	93					12																	4461705		2203	4300	6503	SO:0001583	missense	57103			AJ272206	CCDS8525.1	12p13.32	2014-05-29	2009-11-24	2009-11-24	ENSG00000078237	ENSG00000078237	3.1.3.46		1185	protein-coding gene	gene with protein product	"TP53-induced glycolysis and apoptosis regulator"	610775				16140933, 16839880, 18945750, 19713938	Standard	NM_020375		Approved	TIGAR	uc001qmp.3	Q9NQ88		ENST00000179259.4:c.661C>G	chr12.hg19:g.4461705C>G	ENSP00000179259:p.Leu221Val		B2R840	Missense_Mutation	SNP	ENST00000179259.4	hg19	CCDS8525.1	.	.	.	.	.	.	.	.	.	.	C	3.030	-0.199744	0.06219	.	.	ENSG00000078237	ENST00000179259	T	0.80738	-1.41	5.86	-2.23	0.06930	.	0.842330	0.10652	N	0.649789	T	0.68659	0.3025	L	0.43152	1.355	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.54609	-0.8268	10	0.40728	T	0.16	-13.6183	6.2439	0.20805	0.0912:0.2965:0.4592:0.1531	.	221	Q9NQ88	TIGAR_HUMAN	V	221	ENSP00000179259:L221V	ENSP00000179259:L221V	L	+	1	2	C12orf5	4331966	0.005000	0.15991	0.000000	0.03702	0.066000	0.16364	-0.080000	0.11339	-0.333000	0.08476	-0.219000	0.12488	CTG		0.423	C12orf5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398290.1	NM_020375		G	4461705	C	G	4461705	3	3	662	1	0	0	0	0	1	0	0	0	1696	912	32	4	683	4	C12orf5	12	4461705	Missense_Mutation	SNP	C	TCGA-GL-8500-01A-11D-2396-08	4059757	4461705	129390190	47	36083											
GPR162	27239	hgsc.bcm.edu	37	12	6933600	6933600	+	Missense_Mutation	SNP	T	T	C			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr12:6933600T>C	ENST00000311268.3	+	2	1323	c.536T>C	c.(535-537)tTt>tCt	p.F179S	GPR162_ENST00000382315.3_Intron|GPR162_ENST00000428545.2_Intron	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	179						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						GGCCTCGGCTTTGGCGTTTGC	0.597																																																0													86	82	84					12																	6933600		2203	4300	6503	SO:0001583	missense	27239			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.536T>C	chr12.hg19:g.6933600T>C	ENSP00000311528:p.Phe179Ser		Q16664|Q59EH5|Q66K56	Missense_Mutation	SNP	ENST00000311268.3	hg19	CCDS8563.1	.	.	.	.	.	.	.	.	.	.	T	19.89	3.910599	0.72983	.	.	ENSG00000250510	ENST00000311268	T	0.72051	-0.62	4.33	3.19	0.36642	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.59321	0.2185	L	0.34521	1.04	0.80722	D	1	P;B	0.41624	0.757;0.156	B;B	0.40602	0.334;0.053	T	0.60234	-0.7303	9	0.87932	D	0	.	9.5237	0.39152	0.0:0.0841:0.0:0.9159	.	179;179	B7Z3U3;Q16538	.;GP162_HUMAN	S	179	ENSP00000311528:F179S	ENSP00000311528:F179S	F	+	2	0	GPR162	6803861	1.000000	0.71417	0.747000	0.31113	0.888000	0.51559	7.858000	0.86971	0.722000	0.32252	0.402000	0.26972	TTT		0.597	GPR162-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399478.1	NM_019858		C	6933600	T	C	6933600	3	2	662	1	0	0	0	0	1	0	0	0	6668	1841	64	3	557	3	GPR162	12	6933600	Missense_Mutation	SNP	T	TCGA-GL-8500-01A-11D-2396-08	2471895	6933600	126918295	48	36084											
ITPR2	3709	hgsc.bcm.edu	37	12	26809443	26809443	+	Missense_Mutation	SNP	C	C	G			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr12:26809443C>G	ENST00000381340.3	-	19	2647	c.2231G>C	c.(2230-2232)cGc>cCc	p.R744P		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	744					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)	CAGATACTGGCGATCCAAGCA	0.453																																																0													68	70	69					12																	26809443		2001	4179	6180	SO:0001583	missense	3709			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.2231G>C	chr12.hg19:g.26809443C>G	ENSP00000370744:p.Arg744Pro		O94773	Missense_Mutation	SNP	ENST00000381340.3	hg19	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.758328	0.89843	.	.	ENSG00000123104	ENST00000381340	D	0.95656	-3.77	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	D	0.97949	0.9325	M	0.87381	2.88	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98818	1.0746	10	0.87932	D	0	.	18.0329	0.89290	0.0:1.0:0.0:0.0	.	744	Q14571	ITPR2_HUMAN	P	744	ENSP00000370744:R744P	ENSP00000370744:R744P	R	-	2	0	ITPR2	26700710	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.596000	0.82721	2.546000	0.85860	0.655000	0.94253	CGC		0.453	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		G	26809443	C	G	26809443	3	3	662	1	0	0	0	0	1	0	0	0	7923	768	27	4	6030	4	ITPR2	12	26809443	Missense_Mutation	SNP	C	TCGA-GL-8500-01A-11D-2396-08	19875843	26809443	107042452	49	36085											
DIP2B	57609	hgsc.bcm.edu	37	12	51092173	51092173	+	Missense_Mutation	SNP	A	A	G			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr12:51092173A>G	ENST00000301180.5	+	18	2145	c.2111A>G	c.(2110-2112)tAt>tGt	p.Y704C		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	704						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						GGATTGAGCTATGGGGTAATA	0.463																																																0													108	101	103					12																	51092173		2203	4300	6503	SO:0001583	missense	57609			AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.2111A>G	chr12.hg19:g.51092173A>G	ENSP00000301180:p.Tyr704Cys		Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP	ENST00000301180.5	hg19	CCDS31799.1	.	.	.	.	.	.	.	.	.	.	A	19.81	3.896459	0.72639	.	.	ENSG00000066084	ENST00000301180	T	0.23552	1.9	5.2	5.2	0.72013	AMP-dependent synthetase/ligase (1);	0.113362	0.64402	D	0.000011	T	0.45498	0.1345	M	0.71581	2.175	0.42957	D	0.994399	D	0.63880	0.993	D	0.64687	0.928	T	0.38714	-0.9648	10	0.40728	T	0.16	-14.3821	11.1177	0.48270	0.8536:0.0:0.0:0.1464	.	704	Q9P265	DIP2B_HUMAN	C	704	ENSP00000301180:Y704C	ENSP00000301180:Y704C	Y	+	2	0	DIP2B	49378440	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.169000	0.77578	2.184000	0.69523	0.482000	0.46254	TAT		0.463	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602		G	51092173	A	G	51092173	3	3	662	1	0	0	0	0	1	0	0	0	4530	449	16	3	2181	3	DIP2B	12	51092173	Missense_Mutation	SNP	A	TCGA-GL-8500-01A-11D-2396-08	24282730	51092173	82759722	50	36086											
ESPL1	9700	hgsc.bcm.edu	37	12	53680427	53680427	+	Missense_Mutation	SNP	C	C	A			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr12:53680427C>A	ENST00000257934.4	+	18	3998	c.3907C>A	c.(3907-3909)Cct>Act	p.P1303T	ESPL1_ENST00000552462.1_Missense_Mutation_p.P1303T	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1303					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						AAAAAGTGTCCCTGGCTCAGA	0.527																																					Colon(53;1069 1201 2587 5382)											0													42	44	44					12																	53680427		2203	4300	6503	SO:0001583	missense	9700			D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"separin", "separase", "separin, cysteine protease"	604143	"extra spindle poles like 1 (S. cerevisiae)"			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.3907C>A	chr12.hg19:g.53680427C>A	ENSP00000257934:p.Pro1303Thr			Missense_Mutation	SNP	ENST00000257934.4	hg19	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	C	0.020	-1.435949	0.01108	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.11385	2.78;2.78	5.26	1.4	0.22301	.	0.405202	0.29501	N	0.011979	T	0.05273	0.0140	N	0.21583	0.68	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.42050	-0.9474	10	0.14252	T	0.57	.	3.9836	0.09506	0.1566:0.4565:0.3028:0.0841	.	1303	Q14674	ESPL1_HUMAN	T	1303;978;1303	ENSP00000257934:P1303T;ENSP00000449831:P1303T	ENSP00000257934:P1303T	P	+	1	0	ESPL1	51966694	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	-0.007000	0.12810	0.093000	0.17368	0.561000	0.74099	CCT		0.527	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		A	53680427	C	A	53680427	3	1	662	1	0	0	0	0	1	0	0	0	5255	623	22	4	3973	4	ESPL1	12	53680427	Missense_Mutation	SNP	C	TCGA-GL-8500-01A-11D-2396-08	2588254	53680427	80171468	51	36087											
GLIPR1L2	144321	hgsc.bcm.edu	37	12	75785104	75785104	+	Missense_Mutation	SNP	C	C	A			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr12:75785104C>A	ENST00000550916.1	+	1	255	c.208C>A	c.(208-210)Ccc>Acc	p.P70T	GLIPR1L2_ENST00000378689.2_Missense_Mutation_p.P70T|GLIPR1L2_ENST00000320460.4_Missense_Mutation_p.P70T|GLIPR1L2_ENST00000547164.1_Missense_Mutation_p.P70T|GLIPR1L2_ENST00000441218.1_5'Flank|GLIPR1L2_ENST00000435775.1_Missense_Mutation_p.P70T|GLIPR1L2_ENST00000378692.3_5'UTR|CAPS2_ENST00000442339.2_5'Flank	NM_001270396.1	NP_001257325.1	Q4G1C9	GRPL2_HUMAN	GLI pathogenesis-related 1 like 2	70	SCP.					integral component of membrane (GO:0016021)				kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						CGACGTCATTCCCCGAGGGTC	0.567											OREG0021999	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													104	80	88					12																	75785104		2203	4300	6503	SO:0001583	missense	144321			BC029557	CCDS9010.1, CCDS58258.1	12q21.1	2014-06-03				ENSG00000180481			28592	protein-coding gene	gene with protein product		610394				12477932	Standard	NM_001270396		Approved	MGC39497	uc001sxr.2	Q4G1C9	OTTHUMG00000169756	ENST00000550916.1:c.208C>A	chr12.hg19:g.75785104C>A	ENSP00000448248:p.Pro70Thr	1163	Q6MZS1|Q8N6N0|Q8NA43	Missense_Mutation	SNP	ENST00000550916.1	hg19	CCDS58258.1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.906693	0.33628	.	.	ENSG00000180481	ENST00000550916;ENST00000435775;ENST00000378689;ENST00000320460;ENST00000547164	T;T;T;T;T	0.14516	2.5;2.5;2.5;2.5;2.5	3.68	3.68	0.42216	CAP domain (3);	0.000000	0.85682	D	0.000000	T	0.41880	0.1178	M	0.90425	3.115	0.48288	D	0.999624	D;D	0.89917	0.997;1.0	P;D	0.87578	0.897;0.998	T	0.49062	-0.8978	10	0.87932	D	0	.	11.1954	0.48709	0.0:1.0:0.0:0.0	.	70;70	Q4G1C9;Q4G1C9-2	GRPL2_HUMAN;.	T	70	ENSP00000448248:P70T;ENSP00000398328:P70T;ENSP00000367960:P70T;ENSP00000317385:P70T;ENSP00000447980:P70T	ENSP00000317385:P70T	P	+	1	0	GLIPR1L2	74071371	0.067000	0.21026	0.025000	0.17156	0.007000	0.05969	2.883000	0.48554	2.352000	0.79861	0.585000	0.79938	CCC		0.567	GLIPR1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405718.1	NM_152436		A	75785104	C	A	75785104	3	1	662	1	0	0	0	0	1	0	0	0	6445	855	30	4	210	4	GLIPR1L2	12	75785104	Missense_Mutation	SNP	C	TCGA-GL-8500-01A-11D-2396-08	22104677	75785104	58066791	52	36088											
CUL4A	8451	hgsc.bcm.edu	37	13	113915023	113915023	+	Missense_Mutation	SNP	C	C	G			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr13:113915023C>G	ENST00000375440.4	+	19	2218	c.2134C>G	c.(2134-2136)Cat>Gat	p.H712D	CUL4A_ENST00000326335.4_Missense_Mutation_p.H612D|CUL4A_ENST00000375441.3_Missense_Mutation_p.H612D|CUL4A_ENST00000451881.1_Missense_Mutation_p.H612D	NM_001008895.1	NP_001008895.1	Q13619	CUL4A_HUMAN	cullin 4A	712					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)			GACTCTTGGTCATAATCTTCT	0.328																																																0													75	74	74					13																	113915023		2203	4300	6503	SO:0001583	missense	8451			U58090	CCDS9533.1, CCDS41908.1, CCDS73604.1	13q34	2011-05-24			ENSG00000139842	ENSG00000139842			2554	protein-coding gene	gene with protein product		603137				8681378	Standard	NM_001008895		Approved		uc021rmv.1	Q13619	OTTHUMG00000017384	ENST00000375440.4:c.2134C>G	chr13.hg19:g.113915023C>G	ENSP00000364589:p.His712Asp		A2A2W2|O75834|Q589T6|Q5TC62|Q6UP08|Q9UP17	Missense_Mutation	SNP	ENST00000375440.4	hg19	CCDS41908.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.332500	0.81801	.	.	ENSG00000139842	ENST00000375441;ENST00000451881;ENST00000326335;ENST00000375440	T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.18	5.52	5.52	0.82312	Cullin protein, neddylation domain (2);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.93588	0.7953	H	0.99011	4.4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.95979	0.8976	10	0.87932	D	0	-35.2623	19.4327	0.94778	0.0:1.0:0.0:0.0	.	712;712	Q13619;A8MSH7	CUL4A_HUMAN;.	D	612;612;612;712	ENSP00000364590:H612D;ENSP00000389118:H612D;ENSP00000322132:H612D;ENSP00000364589:H712D	ENSP00000322132:H612D	H	+	1	0	CUL4A	112963024	1.000000	0.71417	0.165000	0.22776	0.878000	0.50629	5.612000	0.67681	2.594000	0.87642	0.561000	0.74099	CAT		0.328	CUL4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045888.3	NM_003589		G	113915023	C	G	113915023	3	3	662	1	0	0	0	0	1	0	0	0	4059	826	29	4	2208	4	CUL4A	13	113915023	Missense_Mutation	SNP	C	TCGA-GL-8500-01A-11D-2396-08		113915023	1254855	53	36089											
LAMP1	3916	hgsc.bcm.edu	37	13	113963979	113963979	+	Missense_Mutation	SNP	T	T	C			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr13:113963979T>C	ENST00000332556.4	+	3	399	c.205T>C	c.(205-207)Tca>Cca	p.S69P	LAMP1_ENST00000397181.3_Missense_Mutation_p.S69P	NM_005561.3	NP_005552.3	P11279	LAMP1_HUMAN	lysosomal-associated membrane protein 1	69	First lumenal domain.				autophagic cell death (GO:0048102)|autophagy (GO:0006914)|establishment of protein localization to organelle (GO:0072594)|Golgi to lysosome transport (GO:0090160)|granzyme-mediated apoptotic signaling pathway (GO:0008626)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|protein stabilization (GO:0050821)|regulation of organelle transport along microtubule (GO:1902513)	alveolar lamellar body (GO:0097208)|cytolytic granule (GO:0044194)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|phagolysosome membrane (GO:0061474)|sarcolemma (GO:0042383)	enzyme binding (GO:0019899)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2)	16	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;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			TGACCTGCCATCAGATGCCAC	0.423																																																0													89	92	91					13																	113963979		1960	4142	6102	SO:0001583	missense	3916			J03263	CCDS41909.1	13q34	2011-11-24			ENSG00000185896	ENSG00000185896		"CD molecules"	6499	protein-coding gene	gene with protein product		153330					Standard	NM_005561		Approved	CD107a	uc001vtm.1	P11279	OTTHUMG00000017380	ENST00000332556.4:c.205T>C	chr13.hg19:g.113963979T>C	ENSP00000333298:p.Ser69Pro		B4DWL3|Q8WU33|Q96I40|Q9BRD2|Q9NP13	Missense_Mutation	SNP	ENST00000332556.4	hg19	CCDS41909.1	.	.	.	.	.	.	.	.	.	.	T	10.74	1.434683	0.25813	.	.	ENSG00000185896	ENST00000332556;ENST00000397181	T;T	0.32023	1.47;1.88	5.15	-10.3	0.00346	.	1.186920	0.05805	N	0.612961	T	0.19366	0.0465	L	0.51914	1.62	0.09310	N	1	B;B	0.15141	0.012;0.004	B;B	0.14578	0.011;0.004	T	0.10064	-1.0646	10	0.26408	T	0.33	-1.3993	4.2226	0.10565	0.0888:0.4046:0.2957:0.2108	.	69;69	B4DWL3;P11279	.;LAMP1_HUMAN	P	69	ENSP00000333298:S69P;ENSP00000415354:S69P	ENSP00000333298:S69P	S	+	1	0	LAMP1	113011980	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.754000	0.00790	-2.251000	0.00700	-0.479000	0.04858	TCA		0.423	LAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045876.2			C	113963979	T	C	113963979	3	2	662	1	0	0	0	0	1	0	0	0	8619	1435	50	3	215	3	LAMP1	13	113963979	Missense_Mutation	SNP	T	TCGA-GL-8500-01A-11D-2396-08	48956	113963979	1205899	54	36090											
SDCCAG1	9147	hgsc.bcm.edu	37	14	50292672	50292672	+	Splice_Site	SNP	G	G	A	rs370101877		TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr14:50292672G>A	ENST00000298310.5	-	16	1939	c.1490C>T	c.(1489-1491)gCa>gTa	p.A497V	NEMF_ENST00000545773.1_Splice_Site_p.A455V|NEMF_ENST00000546046.1_Splice_Site_p.A497V|AL627171.2_ENST00000595378.1_3'UTR|NEMF_ENST00000556925.1_5'UTR			O60524	NEMF_HUMAN	nuclear export mediator factor	497					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						TGACTTGAATGCCTATTTATA	0.269																																																0								G	VAL/ALA	0,4400		0,0,2200	96	91	93		1490	5.3	1	14		93	1,8591	1.2+/-3.3	0,1,4295	no	missense-near-splice	NEMF	NM_004713.3	64	0,1,6495	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	497/1077	50292672	1,12991	2200	4296	6496	SO:0001630	splice_region_variant	9147			AF039687	CCDS9694.1	14q21.3	2012-11-19	2011-01-31	2011-01-31	ENSG00000165525	ENSG00000165525			10663	protein-coding gene	gene with protein product		608378	"serologically defined colon cancer antigen 1"	SDCCAG1		9610721, 10575219	Standard	XR_429334		Approved	NY-CO-1, FLJ10051	uc001wxc.3	O60524	OTTHUMG00000170857	ENST00000298310.5:c.1489-1C>T	chr14.hg19:g.50292672G>A			A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	Missense_Mutation	SNP	ENST00000298310.5	hg19	CCDS9694.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.985467	0.93044	0.0	1.16E-4	ENSG00000165525	ENST00000298310;ENST00000545773;ENST00000546046;ENST00000534912;ENST00000555970	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	5.34	5.34	0.76211	Fibronectin-binding A, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.73892	0.3645	M	0.86864	2.845	0.80722	D	1	D;D;D;D;D	0.69078	0.997;0.994;0.985;0.997;0.995	D;D;D;D;D	0.73380	0.966;0.966;0.943;0.966;0.98	T	0.77086	-0.2718	10	0.54805	T	0.06	-18.6685	19.4564	0.94892	0.0:0.0:1.0:0.0	.	497;268;472;455;497	O60524-3;F5H639;O60524-5;O60524-4;O60524	.;.;.;.;NEMF_HUMAN	V	497;455;497;268;455	ENSP00000298310:A497V;ENSP00000438309:A455V;ENSP00000441016:A497V;ENSP00000452540:A455V	ENSP00000298310:A497V	A	-	2	0	NEMF	49362422	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.484000	0.90445	2.684000	0.91462	0.644000	0.83932	GCA		0.269	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410798.1	NM_004713	Missense_Mutation	A	50292672	G	A	50292672	5	1	662	1	0	0	0	0	0	0	1	0	13963	1333	46	2	1812	2	SDCCAG1	14	50292672	Splice_Site	SNP	G	TCGA-GL-8500-01A-11D-2396-08		50292672	57056868	55	36091											
DLGAP5	9787	hgsc.bcm.edu	37	14	55655750	55655751	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr14:55655750_55655751insAT	ENST00000247191.2	-	2	363_364	c.147_148insAT	c.(145-150)gatgtafs	p.V50fs	DLGAP5_ENST00000395425.2_Frame_Shift_Ins_p.V50fs	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	50					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						GGAATGTTTACATCTTTCAAAC	0.347																																																0																																										SO:0001589	frameshift_variant	9787			D13633	CCDS9723.1, CCDS53897.1	14q22.3	2008-05-30	2008-05-30	2008-05-30	ENSG00000126787	ENSG00000126787			16864	protein-coding gene	gene with protein product			"discs, large homolog 7 (Drosophila)"	DLG7		7584026, 7584028	Standard	NM_014750		Approved	KIAA0008, DLG1, HURP	uc001xbs.3	Q15398	OTTHUMG00000140310	ENST00000247191.2:c.146_147dupAT	chr14.hg19:g.55655751_55655752dupAT	ENSP00000247191:p.Val50fs		A8MTM6|B4DRM8|Q86T11|Q8NG58	Frame_Shift_Ins	INS	ENST00000247191.2	hg19	CCDS9723.1																																																																																				0.347	DLGAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276908.2	NM_014750		AT	55655751	-	AT	55655750	7	5	662	1	0	1	1	0	0	0	0	0	4565	478	17	0	2559	0	DLGAP5	14	55655750	Frame_Shift_Ins	INS	-	TCGA-GL-8500-01A-11D-2396-08	5363078	55655750	51693790	56	36092											
PPM1A	5494	hgsc.bcm.edu	37	14	60712638	60712638	+	5'UTR	SNP	A	A	G			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr14:60712638A>G	ENST00000529574.1	+	0	164				CTD-2184C24.2_ENST00000553775.1_RNA|CTD-2184C24.2_ENST00000529171.1_RNA|PPM1A_ENST00000325642.3_Missense_Mutation_p.R25G|CTD-2184C24.2_ENST00000532515.1_RNA|CTD-2184C24.2_ENST00000553269.1_RNA			P35813	PPM1A_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1A						cell cycle arrest (GO:0007050)|dephosphorylation (GO:0016311)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|N-terminal protein myristoylation (GO:0006499)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-threonine dephosphorylation (GO:0035970)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|protein dephosphorylation (GO:0006470)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|voltage-gated calcium channel complex (GO:0005891)	calmodulin-dependent protein phosphatase activity (GO:0033192)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)|R-SMAD binding (GO:0070412)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.046)		agagaaaagaagaatggggaa	0.408																																																0													79	77	78					14																	60712638		1568	3578	5146	SO:0001623	5_prime_UTR_variant	5494			S87759	CCDS9744.1, CCDS9745.1, CCDS45120.1	14q23.1	2013-01-24	2010-03-05		ENSG00000100614	ENSG00000100614	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	9275	protein-coding gene	gene with protein product	"phosphatase 2C alpha", "protein phosphatase 2C, alpha isoform"	606108	"protein phosphatase 1A (formerly 2C), magnesium-dependent, alpha isoform"			1311954	Standard	NM_177952		Approved	MGC9201, PP2Calpha, PP2CA	uc001xew.4	P35813	OTTHUMG00000140333	ENST00000529574.1:c.-234A>G	chr14.hg19:g.60712638A>G			B5BU11|J3KNM0|O75551	Missense_Mutation	SNP	ENST00000529574.1	hg19	CCDS9744.1	.	.	.	.	.	.	.	.	.	.	A	10.67	1.415786	0.25552	.	.	ENSG00000100614	ENST00000325642	T	0.33438	1.41	3.86	0.196	0.15159	.	.	.	.	.	T	0.14141	0.0342	N	0.08118	0	0.09310	N	0.999997	.	.	.	.	.	.	T	0.23297	-1.0192	7	0.87932	D	0	.	2.3945	0.04386	0.5595:0.0:0.2316:0.2089	.	.	.	.	G	25	ENSP00000327255:R25G	ENSP00000327255:R25G	R	+	1	2	PPM1A	59782391	0.006000	0.16342	0.001000	0.08648	0.216000	0.24613	-0.020000	0.12525	0.023000	0.15187	0.172000	0.16884	AGA		0.408	PPM1A-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		NM_021003		G	60712638	A	G	60712638	1	3	662	0	1	0	0	0	0	0	0	0	12340	64	3	3		3	PPM1A	14	60712638	5'UTR	SNP	A	TCGA-GL-8500-01A-11D-2396-08	5056888	60712638	46636902	57	36093											
DISP2	85455	hgsc.bcm.edu	37	15	40661086	40661086	+	Frame_Shift_Del	DEL	A	A	-			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr15:40661086delA	ENST00000267889.3	+	8	2860	c.2773delA	c.(2773-2775)aatfs	p.N925fs	RP11-64K12.4_ENST00000558421.1_RNA|LINC00594_ENST00000561261.1_lincRNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	925					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)		GCTCTTCTACAATGAGGTCAG	0.602																																																0													53	58	56					15																	40661086		2203	4300	6503	SO:0001589	frameshift_variant	85455			AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.2773delA	chr15.hg19:g.40661086delA	ENSP00000267889:p.Asn925fs		Q6AHW3|Q9C0C1	Frame_Shift_Del	DEL	ENST00000267889.3	hg19	CCDS10056.1																																																																																				0.602	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252249.1	NM_033510		-	40661086	A	-	40661086	7	5	662	1	0	1	0	1	0	0	0	0	4542	130	5	0	2803	0	DISP2	15	40661086	Frame_Shift_Del	DEL	A	TCGA-GL-8500-01A-11D-2396-08		40661086	61870306	58	36094											
MYO5A	4644	hgsc.bcm.edu	37	15	52606371	52606371	+	Silent	SNP	T	T	C			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr15:52606371T>C	ENST00000399231.3	-	40	5607	c.5364A>G	c.(5362-5364)ccA>ccG	p.P1788P	MYO5A_ENST00000356338.6_Silent_p.P1761P|MYO5A_ENST00000358212.6_Silent_p.P1813P|MYO5A_ENST00000553916.1_Silent_p.P1786P|MYO5A_ENST00000399233.2_Silent_p.P1785P	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1788	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				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)		ACTCATTAACTGGAGTATACA	0.348																																																0													88	81	83					15																	52606371		1810	4082	5892	SO:0001819	synonymous_variant	4644				CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"Myosins / Myosin superfamily : Class V"	7602	protein-coding gene	gene with protein product	"myosin, heavy polypeptide kinase", "myosin heavy chain 12", "myoxin", "myosin V"	160777	"myosin VA (heavy polypeptide 12, myoxin)"	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.5364A>G	chr15.hg19:g.52606371T>C			A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Silent	SNP	ENST00000399231.3	hg19	CCDS42037.1																																																																																				0.348	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		C	52606371	T	C	52606371	2	2	662	1	0	0	0	0	0	0	0	1	10080	1567	55	3		3	MYO5A	15	52606371	Silent	SNP	T	TCGA-GL-8500-01A-11D-2396-08	11945285	52606371	49925021	59	36095											
SRRM2	23524	hgsc.bcm.edu	37	16	2812806	2812806	+	Missense_Mutation	SNP	C	C	G			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr16:2812806C>G	ENST00000301740.8	+	11	2826	c.2277C>G	c.(2275-2277)agC>agG	p.S759R		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	759	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						CAAGGCGGAGCAGGTCTCTCT	0.473																																																0													119	123	122					16																	2812806		2198	4300	6498	SO:0001583	missense	23524			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.2277C>G	chr16.hg19:g.2812806C>G	ENSP00000301740:p.Ser759Arg		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	hg19	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	C	8.634	0.894431	0.17613	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933;ENST00000426305	T	0.26373	1.74	5.62	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.32526	0.0832	L	0.27053	0.805	0.33222	D	0.554776	D	0.65815	0.995	P	0.59115	0.852	T	0.48747	-0.9008	10	0.87932	D	0	-13.5853	12.4668	0.55764	0.0:0.9183:0.0:0.0817	.	759	Q9UQ35	SRRM2_HUMAN	R	759;759;11;724	ENSP00000301740:S759R	ENSP00000301740:S759R	S	+	3	2	SRRM2	2752807	0.982000	0.34865	1.000000	0.80357	0.796000	0.44982	0.846000	0.27682	1.367000	0.46095	0.655000	0.94253	AGC		0.473	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			G	2812806	C	G	2812806	3	3	662	1	0	0	0	0	1	0	0	0	15174	709	25	4	2315	4	SRRM2	16	2812806	Missense_Mutation	SNP	C	TCGA-GL-8500-01A-11D-2396-08		2812806	87541947	60	36096											
PRKCB	5579	hgsc.bcm.edu	37	16	23848699	23848699	+	Silent	SNP	C	C	T			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr16:23848699C>T	ENST00000321728.7	+	2	352	c.177C>T	c.(175-177)ggC>ggT	p.G59G	PRKCB_ENST00000498058.1_Intron|PRKCB_ENST00000303531.7_Silent_p.G59G	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	59					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)	TTTGCAGGGGCTTCGGGAAGC	0.552																																																0													113	123	120					16																	23848699		2197	4300	6497	SO:0001819	synonymous_variant	5579			M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"protein kinase C, beta 1"	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.177C>T	chr16.hg19:g.23848699C>T			C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Silent	SNP	ENST00000321728.7	hg19	CCDS10618.1																																																																																				0.552	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535		T	23848699	C	T	23848699	2	4	662	1	0	0	0	0	0	0	0	1	12513	784	28	2		2	PRKCB	16	23848699	Silent	SNP	C	TCGA-GL-8500-01A-11D-2396-08	21035893	23848699	66506054	61	36097											
ZC3H18	124245	hgsc.bcm.edu	37	16	88653085	88653085	+	Silent	SNP	C	C	T			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr16:88653085C>T	ENST00000301011.5	+	3	881	c.681C>T	c.(679-681)ttC>ttT	p.F227F	ZC3H18_ENST00000452588.2_Silent_p.F227F	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	227						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)		GCCGGTTCTTCATGAAAGGTA	0.587																																					Ovarian(121;375 2276 20373 38669)											0													112	88	96					16																	88653085		2198	4300	6498	SO:0001819	synonymous_variant	124245			BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"Zinc fingers, CCCH-type domain containing"	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.681C>T	chr16.hg19:g.88653085C>T			Q96DG4|Q96MP7	Silent	SNP	ENST00000301011.5	hg19	CCDS10967.1																																																																																				0.587	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604		T	88653085	C	T	88653085	2	4	662	1	0	0	0	0	0	0	0	1	17573	825	29	2		2	ZC3H18	16	88653085	Silent	SNP	C	TCGA-GL-8500-01A-11D-2396-08	64804386	88653085	1701668	62	36098											
SAT2	112483	hgsc.bcm.edu	37	17	7530935	7530935	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr17:7530935G>A	ENST00000269298.5	-	1	238	c.19C>T	c.(19-21)Cga>Tga	p.R7*	SAT2_ENST00000573566.1_Nonsense_Mutation_p.R7*|SHBG_ENST00000575314.1_Intron|SHBG_ENST00000570547.1_Intron|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000576478.1_Intron|SHBG_ENST00000574539.1_Intron|SHBG_ENST00000380450.4_5'Flank|SAT2_ENST00000380466.2_5'UTR|SHBG_ENST00000416273.3_5'Flank|SHBG_ENST00000572262.1_Intron|SHBG_ENST00000340624.5_5'Flank|SHBG_ENST00000575903.1_5'Flank|SHBG_ENST00000441599.2_5'Flank|SHBG_ENST00000576728.1_Intron	NM_133491.3	NP_597998.1	Q96F10	SAT2_HUMAN	spermidine/spermine N1-acetyltransferase family member 2	7	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				nor-spermidine metabolic process (GO:0046204)|putrescine acetylation (GO:0032920)|putrescine catabolic process (GO:0009447)|spermidine acetylation (GO:0032918)|spermine acetylation (GO:0032919)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	diamine N-acetyltransferase activity (GO:0004145)	p.?(1)		kidney(1)|large_intestine(2)	3				READ - Rectum adenocarcinoma(115;0.166)	Spermine(DB00127)	TTGGCCTCTCGGATCCGCACG	0.632																																																1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)											50	45	47					17																	7530935		2203	4300	6503	SO:0001587	stop_gained	112483			AF348524	CCDS11116.1	17p13.2	2011-11-16	2008-01-07		ENSG00000141504	ENSG00000141504	2.3.1.57		23160	protein-coding gene	gene with protein product	"diamine N-acetyltransferase 2"	611463	"spermidine/spermine N1-acetyltransferase 2"			15283699, 17558023	Standard	NM_133491		Approved	SSAT2	uc002gic.2	Q96F10	OTTHUMG00000108152	ENST00000269298.5:c.19C>T	chr17.hg19:g.7530935G>A	ENSP00000269298:p.Arg7*			Nonsense_Mutation	SNP	ENST00000269298.5	hg19	CCDS11116.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.441041|6.441041	0.97568|0.97568	.|.	.|.	ENSG00000141504|ENSG00000141504	ENST00000380466|ENST00000269298	.|.	.|.	.|.	4.71|4.71	4.71|4.71	0.59529|0.59529	.|.	0.000000|.	0.31963|.	U|.	0.006786|.	T|.	0.34658|.	0.0905|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.15752|.	-1.0426|.	6|.	0.72032|0.02654	D|T	0.01|1	-13.2823|-13.2823	13.0369|13.0369	0.58877|0.58877	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	L|X	80|7	.|.	ENSP00000369833:P80L|ENSP00000269298:R7X	P|R	-|-	2|1	0|2	SAT2|SAT2	7471660|7471660	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.852000|0.852000	0.48524|0.48524	3.025000|3.025000	0.49681|0.49681	2.453000|2.453000	0.82957|0.82957	0.655000|0.655000	0.94253|0.94253	CCG|CGA		0.632	SAT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440078.1	NM_133491		A	7530935	G	A	7530935	4	1	662	1	0	0	0	0	0	1	0	0	13858	1124	39	1	517	1	SAT2	17	7530935	Nonsense_Mutation	SNP	G	TCGA-GL-8500-01A-11D-2396-08		7530935	73664275	63	36099											
LINGO3	645191	hgsc.bcm.edu	37	19	2290213	2290213	+	Silent	SNP	C	C	T			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr19:2290213C>T	ENST00000585527.1	-	1	1810	c.1563G>A	c.(1561-1563)ccG>ccA	p.P521P	LINGO3_ENST00000404279.1_Silent_p.P521P			P0C6S8	LIGO3_HUMAN	leucine rich repeat and Ig domain containing 3	521						integral component of membrane (GO:0016021)				lung(1)|urinary_tract(1)	2						TGAGGTCGAGCGGCGCGCGCA	0.706																																																0													20	25	24					19																	2290213		2039	4177	6216	SO:0001819	synonymous_variant	645191			AK091795	CCDS45905.1	19p13.3	2013-01-11	2007-02-01	2007-02-01		ENSG00000220008		"Immunoglobulin superfamily / I-set domain containing"	21206	protein-coding gene	gene with protein product		609792	"leucine rich repeat neuronal 6B"	LRRN6B		14686891	Standard	NM_001101391		Approved	LERN2	uc010dsx.1	P0C6S8		ENST00000585527.1:c.1563G>A	chr19.hg19:g.2290213C>T				Silent	SNP	ENST00000585527.1	hg19	CCDS45905.1																																																																																				0.706	LINGO3-001	KNOWN	upstream_ATG|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451291.2	NM_001101391		T	2290213	C	T	2290213	2	4	662	1	0	0	0	0	0	0	0	1	8818	755	27	1		1	LINGO3	19	2290213	Silent	SNP	C	TCGA-GL-8500-01A-11D-2396-08		2290213	56838770	64	36100											
ZNF557	79230	hgsc.bcm.edu	37	19	7075688	7075688	+	Splice_Site	SNP	C	C	G			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr19:7075688C>G	ENST00000439035.2	+	4	273	c.33C>G	c.(31-33)gcC>gcG	p.A11A	ZNF557_ENST00000414706.1_Silent_p.A18A|ZNF557_ENST00000252840.6_Silent_p.A18A			Q8N988	ZN557_HUMAN	zinc finger protein 557	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(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		TGTTCCCAGCCTCTCAGCGAG	0.532																																																0													132	139	136					19																	7075688		2203	4300	6503	SO:0001630	splice_region_variant	79230			AK095524	CCDS42485.1, CCDS45945.1	19p13.2	2013-09-20			ENSG00000130544	ENSG00000130544		"Zinc fingers, C2H2-type", "-"	28632	protein-coding gene	gene with protein product						12477932	Standard	NM_024341		Approved	MGC4054	uc002mgc.3	Q8N988	OTTHUMG00000181977	ENST00000439035.2:c.32-1C>G	chr19.hg19:g.7075688C>G			Q6PEJ3|Q9BTZ1	Silent	SNP	ENST00000439035.2	hg19	CCDS45945.1																																																																																				0.532	ZNF557-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458502.1	NM_024341	Silent	G	7075688	C	G	7075688	5	3	662	1	0	0	0	0	0	0	1	0	17993	695	24	4	60	4	ZNF557	19	7075688	Splice_Site	SNP	C	TCGA-GL-8500-01A-11D-2396-08	4785475	7075688	52053295	65	36101											
CACNA1A	773	hgsc.bcm.edu	37	19	13346025	13346025	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr19:13346025G>A	ENST00000360228.5	-	33	5130	c.5131C>T	c.(5131-5133)Cag>Tag	p.Q1711*	CACNA1A_ENST00000573710.2_Nonsense_Mutation_p.Q1712*|CACNA1A_ENST00000574822.1_5'UTR	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1712					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	ACACTCACCTGCATCCCAATG	0.557											OREG0025293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													44	48	47					19																	13346025		2021	4185	6206	SO:0001587	stop_gained	773			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.5131C>T	chr19.hg19:g.13346025G>A	ENSP00000353362:p.Gln1711*	686	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Nonsense_Mutation	SNP	ENST00000360228.5	hg19	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	G	48	14.471052	0.99797	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	.	.	.	5.17	5.17	0.71159	.	0.140928	0.48767	D	0.000167	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.4899	0.87700	0.0:0.0:1.0:0.0	.	.	.	.	X	1711;1717;1712;1712	.	ENSP00000317661:Q1712X	Q	-	1	0	CACNA1A	13207025	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.808000	0.99193	2.411000	0.81874	0.644000	0.83932	CAG		0.557	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		A	13346025	G	A	13346025	4	1	662	1	0	0	0	0	0	1	0	0	2540	1328	46	2	2550	2	CACNA1A	19	13346025	Nonsense_Mutation	SNP	G	TCGA-GL-8500-01A-11D-2396-08	6270337	13346025	45782958	66	36102											
ZNF461	92283	hgsc.bcm.edu	37	19	37147417	37147417	+	Missense_Mutation	SNP	G	G	C			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr19:37147417G>C	ENST00000588268.1	-	4	392	c.165C>G	c.(163-165)atC>atG	p.I55M	ZNF461_ENST00000360357.4_Missense_Mutation_p.I55M	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	55	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CCAATGAGGAGATTACGGCTG	0.443																																																0													72	74	73					19																	37147417		2068	4232	6300	SO:0001583	missense	92283			BX649031	CCDS54257.1, CCDS74348.1	19q13.13	2013-01-08				ENSG00000197808		"Zinc fingers, C2H2-type", "-"	21629	protein-coding gene	gene with protein product		608640				11579202, 15004467	Standard	XM_005259402		Approved	GIOT-1, MGC33911	uc002oem.3	Q8TAF7		ENST00000588268.1:c.165C>G	chr19.hg19:g.37147417G>C	ENSP00000467931:p.Ile55Met		A8K9W9|Q6VSF7|Q9ULZ8	Missense_Mutation	SNP	ENST00000588268.1	hg19	CCDS54257.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.306002	0.40795	.	.	ENSG00000197808	ENST00000396893;ENST00000360357	T	0.00912	5.55	3.27	-0.373	0.12516	Krueppel-associated box (3);	.	.	.	.	T	0.05090	0.0136	M	0.88704	2.975	0.09310	N	1	D;D	0.64830	0.994;0.994	D;D	0.76071	0.987;0.987	T	0.14364	-1.0475	9	0.87932	D	0	.	5.9972	0.19501	0.3696:0.0:0.6304:0.0	.	55;55	B4DRP8;Q8TAF7	.;ZN461_HUMAN	M	55	ENSP00000353515:I55M	ENSP00000353515:I55M	I	-	3	3	ZNF461	41839257	0.882000	0.30256	0.011000	0.14972	0.955000	0.61496	0.417000	0.21214	-0.071000	0.12886	0.585000	0.79938	ATC		0.443	ZNF461-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453202.1	NM_153257		C	37147417	G	C	37147417	3	2	662	1	0	0	0	0	1	0	0	0	17930	932	33	4	1538	4	ZNF461	19	37147417	Missense_Mutation	SNP	G	TCGA-GL-8500-01A-11D-2396-08	23801392	37147417	21981566	67	36103											
ERCC2	2068	hgsc.bcm.edu	37	19	45868315	45868315	+	Silent	SNP	G	G	A	rs139263710		TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr19:45868315G>A	ENST00000391945.4	-	6	539	c.462C>T	c.(460-462)caC>caT	p.H154H	ERCC2_ENST00000485403.2_Silent_p.H130H|ERCC2_ENST00000391940.4_Silent_p.H130H|ERCC2_ENST00000221481.6_Intron|ERCC2_ENST00000391944.3_Intron	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	154	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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)		AGAATCGGCAGTGGGGCAGGC	0.637			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													yes	Rec		Xeroderma pigmentosum (D)	19	19q13.2-q13.3	2068	"excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)"		E	0													61	55	57					19																	45868315		2203	4300	6503	SO:0001819	synonymous_variant	2068	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV		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.462C>T	chr19.hg19:g.45868315G>A			Q2TB78|Q2YDY2|Q7KZU6|Q8N721	Silent	SNP	ENST00000391945.4	hg19	CCDS33049.1																																																																																				0.637	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109626.2	NM_000400		A	45868315	G	A	45868315	2	1	662	1	0	0	0	0	0	0	0	1	5215	1020	36	2		2	ERCC2	19	45868315	Silent	SNP	G	TCGA-GL-8500-01A-11D-2396-08	8720898	45868315	13260668	68	36104											
BAX	581	hgsc.bcm.edu	37	19	49464330	49464330	+	Intron	SNP	T	T	C			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr19:49464330T>C	ENST00000345358.7	+	5	526				BAX_ENST00000354470.3_Intron|BAX_ENST00000539787.1_Intron|BAX_ENST00000391871.3_Intron|BAX_ENST00000293288.8_Silent_p.Y211Y|CTD-2639E6.9_ENST00000599784.1_lincRNA|BAX_ENST00000415969.2_Intron	NM_138761.3|NM_138764.4	NP_620116.1|NP_620119.2	Q07812	BAX_HUMAN	BCL2-associated X protein						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)			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)		ATGTGGTCTATAATGCGTTTT	0.567																																																0													89	63	72					19																	49464330		2176	4278	6454	SO:0001627	intron_variant	581				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.474+159T>C	chr19.hg19:g.49464330T>C			A8K4W1|P55269|Q07814|Q07815|Q8WZ49|Q9NR76|Q9NYG7|Q9UCZ6|Q9UCZ7|Q9UQD6	Silent	SNP	ENST00000345358.7	hg19	CCDS12742.1																																																																																				0.567	BAX-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360767.1	NM_138763		C	49464330	T	C	49464330	1	2	662	0	1	0	0	0	0	0	0	0	1328	1413	49	3		3	BAX	19	49464330	Intron	SNP	T	TCGA-GL-8500-01A-11D-2396-08	3596015	49464330	9664653	69	36105											
ZNF321	399669	hgsc.bcm.edu	37	19	53432286	53432286	+	Missense_Mutation	SNP	A	A	G			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr19:53432286A>G	ENST00000391777.3	-	4	693	c.572T>C	c.(571-573)tTg>tCg	p.L191S	ZNF816_ENST00000434371.2_Missense_Mutation_p.L191S|ZNF816_ENST00000549216.1_Missense_Mutation_p.L122S|ZNF816-ZNF321P_ENST00000313956.4_RNA			Q8N8H1	ZN321_HUMAN	zinc finger protein 321, pseudogene	122										endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4						TTGGGATGTCAAAATTAAGGA	0.373																																																0													94	100	98					19																	53432286		2185	4293	6478	SO:0001583	missense	100529240			AK096828		19q13.4	2013-01-08	2011-04-19	2011-04-19	ENSG00000221874	ENSG00000221874			13827	pseudogene	pseudogene			"zinc finger protein 321"	ZNF321			Standard	NR_037805		Approved	MGC35402		Q8N8H1	OTTHUMG00000167760	ENST00000391777.3:c.572T>C	chr19.hg19:g.53432286A>G	ENSP00000375656:p.Leu191Ser		B7ZB38|Q68DZ0|Q86SS5	Missense_Mutation	SNP	ENST00000391777.3	hg19	CCDS56101.1	.	.	.	.	.	.	.	.	.	.	g	0.886	-0.727124	0.03158	.	.	ENSG00000180257;ENSG00000180257;ENSG00000221874	ENST00000549216;ENST00000434371;ENST00000391777	T;T;T	0.01252	5.1;5.95;5.95	1.78	-0.553	0.11815	.	.	.	.	.	T	0.00412	0.0013	N	0.00337	-1.62	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46512	-0.9186	9	0.02654	T	1	.	4.0322	0.09714	0.4322:0.0:0.5678:0.0	.	122	Q8N8H1	ZN321_HUMAN	S	122;191;191	ENSP00000449832:L122S;ENSP00000438519:L191S;ENSP00000375656:L191S	ENSP00000375656:L191S	L	-	2	0	ZNF321P;ZNF816	58124098	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	0.088000	0.14979	0.107000	0.17824	-1.981000	0.00455	TTG		0.373	ZNF321P-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000396130.1	NR_037805		G	53432286	A	G	53432286	3	3	662	1	0	0	0	0	1	0	0	0	17845	131	5	3	133	3	ZNF321	19	53432286	Missense_Mutation	SNP	A	TCGA-GL-8500-01A-11D-2396-08	3967956	53432286	5696697	70	36106											
NLRP9	338321	hgsc.bcm.edu	37	19	56244868	56244868	+	Missense_Mutation	SNP	A	A	T			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr19:56244868A>T	ENST00000332836.2	-	2	356	c.329T>A	c.(328-330)aTa>aAa	p.I110K		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	110						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)		CTTCTCCCATATGAGTTGAAA	0.363																																																0													122	122	122					19																	56244868		2203	4300	6503	SO:0001583	missense	338321			AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22941	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"	609663	"NACHT, leucine rich repeat and PYD containing 9"	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.329T>A	chr19.hg19:g.56244868A>T	ENSP00000331857:p.Ile110Lys		B2RN12|Q86W27	Missense_Mutation	SNP	ENST00000332836.2	hg19	CCDS12934.1	.	.	.	.	.	.	.	.	.	.	A	14.52	2.559517	0.45590	.	.	ENSG00000185792	ENST00000332836;ENST00000333452	T	0.73897	-0.79	3.4	3.4	0.38934	.	.	.	.	.	T	0.60996	0.2312	L	0.39898	1.24	0.18873	N	0.999985	P	0.42827	0.791	B	0.36719	0.231	T	0.49925	-0.8887	9	0.29301	T	0.29	.	8.4613	0.32929	1.0:0.0:0.0:0.0	.	110	Q7RTR0	NALP9_HUMAN	K	110	ENSP00000331857:I110K	ENSP00000331857:I110K	I	-	2	0	NLRP9	60936680	0.004000	0.15560	0.004000	0.12327	0.074000	0.17049	1.274000	0.33132	1.588000	0.49971	0.524000	0.50904	ATA		0.363	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820		T	56244868	A	T	56244868	3	4	662	1	0	0	0	0	1	0	0	0	10486	449	16	5	2678	5	NLRP9	19	56244868	Missense_Mutation	SNP	A	TCGA-GL-8500-01A-11D-2396-08	2812582	56244868	2884115	71	36107											
MZF1	7593	hgsc.bcm.edu	37	19	59073766	59073766	+	Missense_Mutation	SNP	G	G	T			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr19:59073766G>T	ENST00000215057.2	-	6	2438	c.1878C>A	c.(1876-1878)caC>caA	p.H626Q	AC016629.8_ENST00000600726.1_RNA|AC016629.8_ENST00000593642.1_RNA|MZF1_ENST00000599369.1_Missense_Mutation_p.H626Q|MZF1_ENST00000594234.1_3'UTR|AC016629.8_ENST00000600534.1_RNA	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	626					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	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)|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 regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		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;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		ACTCACCGCAGTGGTAGGGCT	0.682																																																0													33	25	28					19																	59073766		2201	4300	6501	SO:0001583	missense	7593			M58297	CCDS12988.1, CCDS59427.1	19q13.43	2014-08-22	2006-06-15	2006-06-15	ENSG00000099326	ENSG00000099326		"-", "Zinc fingers, C2H2-type"	13108	protein-coding gene	gene with protein product		194550	"zinc finger protein 42 (myeloid-specific retinoic acid-responsive)"	ZNF42		1860835	Standard	NM_198055		Approved	ZSCAN6, MZF1B, MZF-1, Zfp98	uc002qtn.3	P28698	OTTHUMG00000183550	ENST00000215057.2:c.1878C>A	chr19.hg19:g.59073766G>T	ENSP00000215057:p.His626Gln		M0QXU0|Q7Z729|Q96I71|Q9NRY0|Q9UBW2	Missense_Mutation	SNP	ENST00000215057.2	hg19	CCDS12988.1	.	.	.	.	.	.	.	.	.	.	G	8.359	0.832673	0.16820	.	.	ENSG00000099326	ENST00000215057	T	0.16073	2.37	3.21	2.17	0.27698	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.732947	0.11236	N	0.585150	T	0.04272	0.0118	N	0.00315	-1.66	0.25952	N	0.982731	B	0.27286	0.174	B	0.34722	0.188	T	0.43540	-0.9385	10	0.15499	T	0.54	-9.8517	4.7075	0.12856	0.1258:0.2248:0.6494:0.0	.	626	P28698	MZF1_HUMAN	Q	626	ENSP00000215057:H626Q	ENSP00000215057:H626Q	H	-	3	2	MZF1	63765578	0.000000	0.05858	0.908000	0.35775	0.900000	0.52787	-0.753000	0.04792	0.925000	0.37094	-0.379000	0.06801	CAC		0.682	MZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467112.1	NM_198055		T	59073766	G	T	59073766	3	4	662	1	0	0	0	0	1	0	0	0	10110	1020	36	4	330	4	MZF1	19	59073766	Missense_Mutation	SNP	G	TCGA-GL-8500-01A-11D-2396-08	2828898	59073766	55217	72	36108											
CPXM1	56265	hgsc.bcm.edu	37	20	2776796	2776796	+	Silent	SNP	C	C	G			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr20:2776796C>G	ENST00000380605.2	-	10	1318	c.1254G>C	c.(1252-1254)ctG>ctC	p.L418L		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	418					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CCCAGCCCACCAGCTCTGAAC	0.602																																																0													56	59	58					20																	2776796		2203	4300	6503	SO:0001819	synonymous_variant	56265			AL035460	CCDS13033.1	20p13	2012-02-10	2006-08-24	2006-08-24	ENSG00000088882	ENSG00000088882			15771	protein-coding gene	gene with protein product	"carboxypeptidase-like protein X1"	609555	"carboxypeptidase X (M14 family)"	CPXM		14702039	Standard	NM_019609		Approved	CPX-1, CPX1	uc002wgu.3	Q96SM3	OTTHUMG00000031706	ENST00000380605.2:c.1254G>C	chr20.hg19:g.2776796C>G			Q6P4G8|Q6UW65|Q9NUB5	Silent	SNP	ENST00000380605.2	hg19	CCDS13033.1																																																																																				0.602	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077643.2	NM_019609		G	2776796	C	G	2776796	2	3	662	1	0	0	0	0	0	0	0	1	3839	581	21	4		4	CPXM1	20	2776796	Silent	SNP	C	TCGA-GL-8500-01A-11D-2396-08		2776796	60248724	73	36109											
HUNK	30811	hgsc.bcm.edu	37	21	33371363	33371363	+	Missense_Mutation	SNP	A	A	C			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	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																																																0													54	60	58					21																	33371363		2203	4300	6503	SO:0001583	missense	30811			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	chr21.hg19:g.33371363A>C	ENSP00000270112:p.Met671Leu			Missense_Mutation	SNP	ENST00000270112.2	hg19	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		C	33371363	A	C	33371363	3	2	662	1	0	0	0	0	1	0	0	0	7460	333	12	5	2053	5	HUNK	21	33371363	Missense_Mutation	SNP	A	TCGA-GL-8500-01A-11D-2396-08		33371363	14758532	74	36110											
TTC3	7267	hgsc.bcm.edu	37	21	38568034	38568035	+	Frame_Shift_Ins	INS	-	-	T			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr21:38568034_38568035insT	ENST00000399017.2	+	42	8023_8024	c.5276_5277insT	c.(5275-5280)tctgcafs	p.A1760fs	TTC3_ENST00000355666.1_Frame_Shift_Ins_p.A1760fs|TTC3-AS1_ENST00000424733.1_RNA|TTC3_ENST00000354749.2_Frame_Shift_Ins_p.A1760fs|TTC3_ENST00000479930.1_3'UTR	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)											0																																										SO:0001589	frameshift_variant	7267			D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"RING-type (C3HC4) zinc fingers", "Tetratricopeptide (TTC) repeat domain containing"	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.5277dupT	chr21.hg19:g.38568035_38568035dupT	ENSP00000381981:p.Ala1760fs		A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Frame_Shift_Ins	INS	ENST00000399017.2	hg19	CCDS13651.1																																																																																				0.569	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1			T	38568035	-	T	38568034	7	5	662	1	0	1	1	0	0	0	0	0	16702	913	32	0	5438	0	TTC3	21	38568034	Frame_Shift_Ins	INS	-	TCGA-GL-8500-01A-11D-2396-08	5196671	38568034	9561861	75	36111											
MICAL3	57553	hgsc.bcm.edu	37	22	18293513	18293513	+	Missense_Mutation	SNP	T	T	C			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr22:18293513T>C	ENST00000441493.2	-	28	5864	c.5512A>G	c.(5512-5514)Aga>Gga	p.R1838G	XXbac-B461K10.4_ENST00000476405.1_RNA|MICAL3_ENST00000580469.1_5'UTR	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1838					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)		TTGGCCTGTCTCCGAGCTGCC	0.572																																																0													92	98	96					22																	18293513		2184	4283	6467	SO:0001583	missense	57553			AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.5512A>G	chr22.hg19:g.18293513T>C	ENSP00000416015:p.Arg1838Gly		B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	ENST00000441493.2	hg19	CCDS46659.1	.	.	.	.	.	.	.	.	.	.	T	16.19	3.051801	0.55218	.	.	ENSG00000093100	ENST00000441493	T	0.68025	-0.3	4.81	4.81	0.61882	.	0.102956	0.64402	D	0.000009	T	0.70631	0.3246	L	0.34521	1.04	0.80722	D	1	D	0.63880	0.993	D	0.72338	0.977	T	0.69146	-0.5222	9	.	.	.	.	11.1121	0.48239	0.0:0.0:0.1547:0.8453	.	1838	Q7RTP6	MICA3_HUMAN	G	1838	ENSP00000416015:R1838G	.	R	-	1	2	XXbac-B461K10.4	16673513	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	2.991000	0.49409	1.799000	0.52666	0.379000	0.24179	AGA		0.572	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			C	18293513	T	C	18293513	3	2	662	1	0	0	0	0	1	0	0	0	9573	1559	54	3	516	3	MICAL3	22	18293513	Missense_Mutation	SNP	T	TCGA-GL-8500-01A-11D-2396-08		18293513	33011053	76	36112											
POLR2F	5435	hgsc.bcm.edu	37	22	38355418	38355418	+	Missense_Mutation	SNP	C	C	G			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr22:38355418C>G	ENST00000442738.2	+	3	281	c.156C>G	c.(154-156)atC>atG	p.I52M	POLR2F_ENST00000460648.1_Intron|POLR2F_ENST00000470701.1_Missense_Mutation_p.I47M|POLR2F_ENST00000606538.1_Missense_Mutation_p.I52M|POLR2F_ENST00000488684.1_Nonsense_Mutation_p.S72*|POLR2F_ENST00000407936.1_Missense_Mutation_p.I52M|POLR2F_ENST00000405557.1_Missense_Mutation_p.I52M	NM_021974.3	NP_068809.1	P61218	RPAB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide F	52					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase II, core complex (GO:0005665)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(1)|urinary_tract(2)	3	Melanoma(58;0.045)					AGAAGCGAATCACCACACCAT	0.577																																																0													187	170	176					22																	38355418		2203	4300	6503	SO:0001583	missense	5435				CCDS13963.1	22q13.1	2013-01-21			ENSG00000100142	ENSG00000100142		"RNA polymerase subunits"	9193	protein-coding gene	gene with protein product	"DNA directed RNA polymerase II 14.4 kda polypeptide"	604414				8786150	Standard	XR_112241		Approved	RPB6, HRBP14.4	uc010gxi.3	P61218	OTTHUMG00000151160	ENST00000442738.2:c.156C>G	chr22.hg19:g.38355418C>G	ENSP00000403852:p.Ile52Met		P41584|Q6IAY3	Missense_Mutation	SNP	ENST00000442738.2	hg19	CCDS13963.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.242366	0.79912	.	.	ENSG00000100142	ENST00000442738;ENST00000407936;ENST00000405557	.	.	.	4.98	4.98	0.66077	RNA polymerase subunit, RPB6/omega (1);	0.000000	0.85682	D	0.000000	T	0.67353	0.2884	L	0.60455	1.87	0.80722	D	1	B	0.11235	0.004	B	0.25140	0.058	T	0.65656	-0.6115	9	0.54805	T	0.06	.	18.6213	0.91322	0.0:1.0:0.0:0.0	.	52	P61218	RPAB2_HUMAN	M	52	.	ENSP00000384112:I52M	I	+	3	3	POLR2F	36685364	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.564000	0.53791	2.467000	0.83353	0.655000	0.94253	ATC		0.577	POLR2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321570.1	NM_021974		G	38355418	C	G	38355418	3	3	662	1	0	0	0	0	1	0	0	0	12221	816	29	4	166	4	POLR2F	22	38355418	Missense_Mutation	SNP	C	TCGA-GL-8500-01A-11D-2396-08	20061905	38355418	12949148	77	36113											
KDELR3	11015	hgsc.bcm.edu	37	22	38875733	38875733	+	Missense_Mutation	SNP	A	A	G			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr22:38875733A>G	ENST00000216014.4	+	3	500	c.328A>G	c.(328-330)Aac>Gac	p.N110D	KDELR3_ENST00000471268.1_3'UTR|KDELR3_ENST00000409006.3_Missense_Mutation_p.N110D	NM_006855.2	NP_006846.1	O43731	ERD23_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3	110					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)					CTTCCTTGAAAACTACAGTTT	0.473																																					Ovarian(11;103 529 24120 28493 32980)											0													226	234	231					22																	38875733		2203	4300	6503	SO:0001583	missense	11015			AL035081	CCDS13972.1, CCDS46705.1	22q13	2008-05-02			ENSG00000100196	ENSG00000100196			6306	protein-coding gene	gene with protein product							Standard	NM_006855		Approved		uc003avu.3	O43731	OTTHUMG00000153520	ENST00000216014.4:c.328A>G	chr22.hg19:g.38875733A>G	ENSP00000216014:p.Asn110Asp		A8K7T7|B8ZZ26|O95557|Q4V750|Q4V767|Q53FP4|Q53GK1	Missense_Mutation	SNP	ENST00000216014.4	hg19	CCDS13972.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.824209	0.90955	.	.	ENSG00000100196	ENST00000216014;ENST00000409006	T;T	0.29142	1.58;1.58	4.39	4.39	0.52855	.	0.000000	0.85682	D	0.000000	T	0.58750	0.2144	M	0.89287	3.02	0.80722	D	1	D;D	0.58970	0.984;0.98	D;P	0.64410	0.925;0.823	T	0.66937	-0.5797	10	0.54805	T	0.06	.	13.8085	0.63248	1.0:0.0:0.0:0.0	.	110;110	O43731;O43731-2	ERD23_HUMAN;.	D	110	ENSP00000216014:N110D;ENSP00000386918:N110D	ENSP00000216014:N110D	N	+	1	0	KDELR3	37205679	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	8.916000	0.92745	1.854000	0.53819	0.533000	0.62120	AAC		0.473	KDELR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331474.1			G	38875733	A	G	38875733	3	3	662	1	0	0	0	0	1	0	0	0	8123	14	1	3	338	3	KDELR3	22	38875733	Missense_Mutation	SNP	A	TCGA-GL-8500-01A-11D-2396-08	520315	38875733	12428833	78	36114											
RIMS3	9783	hgsc.bcm.edu	37	1	41107442	41107442	+	Silent	SNP	C	C	T			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr1:41107442C>T	ENST00000372684.3	-	3	625	c.156G>A	c.(154-156)aaG>aaA	p.K52K	RIMS3_ENST00000372683.1_Silent_p.K52K	NM_014747.2	NP_055562.2	Q9UJD0	RIMS3_HUMAN	regulating synaptic membrane exocytosis 3	52					calcium ion-dependent exocytosis (GO:0017156)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)			TGGCCACCATCTTGGCACCCA	0.662																																																0													50	46	47					1																	41107442		2203	4300	6503	SO:0001819	synonymous_variant	9783			BC003103	CCDS30687.1	1p34.2	2013-09-19			ENSG00000117016	ENSG00000117016			21292	protein-coding gene	gene with protein product		611600				12620390, 10748113	Standard	NM_014747		Approved	RIM3, NIM3	uc001cfu.1	Q9UJD0	OTTHUMG00000007453	ENST00000372684.3:c.156G>A	chr1.hg19:g.41107442C>T			D3DPV8|Q92511|X5D7U7	Silent	SNP	ENST00000372684.3	hg19	CCDS30687.1																																																																																				0.662	RIMS3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019585.1	NM_014747		T	41107442	C	T	41107442	2	4	663	1	0	0	0	0	0	0	0	1	13375	912	32	2		2	RIMS3	1	41107442	Silent	SNP	C	TCGA-GL-A4EM-01A-11D-A25F-10		41107442	208143179	1	36115											
LRRC42	115353	hgsc.bcm.edu	37	1	54417869	54417876	+	Frame_Shift_Del	DEL	AAGAGAAG	AAGAGAAG	-			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10	AAGAGAAG	AAGAGAAG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr1:54417869_54417876delAAGAGAAG	ENST00000371370.3	+	3	718_725	c.197_204delAAGAGAAG	c.(196-204)aaagagaagfs	p.KEK66fs	LRRC42_ENST00000319223.4_Frame_Shift_Del_p.KEK66fs	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	66										breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						ACTGCACGGAAAGAGAAGACTGATCATT	0.514																																																0																																										SO:0001589	frameshift_variant	115353			AK075201	CCDS585.1	1p33-p32.1	2014-02-12			ENSG00000116212	ENSG00000116212			28792	protein-coding gene	gene with protein product						12477932	Standard	NM_001256409		Approved	MGC8974	uc001cwj.2	Q9Y546	OTTHUMG00000008436	ENST00000371370.3:c.197_204delAAGAGAAG	chr1.hg19:g.54417869_54417876delAAGAGAAG	ENSP00000360421:p.Lys66fs		D3DQ46|Q8N2Q8	Frame_Shift_Del	DEL	ENST00000371370.3	hg19	CCDS585.1																																																																																				0.514	LRRC42-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023250.1	NM_052940		-	54417876	AAGAGAAG	-	54417869	7	5	663	1	0	1	0	1	0	0	0	0	9002	14	1	0	199	0	LRRC42	1	54417869	Frame_Shift_Del	DEL	AAGAGAAG	TCGA-GL-A4EM-01A-11D-A25F-10	13310427	54417869	194832752	2	36116											
SLC25A44	9673	hgsc.bcm.edu	37	1	156169658	156169658	+	Missense_Mutation	SNP	T	T	C			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr1:156169658T>C	ENST00000359511.4	+	2	192	c.20T>C	c.(19-21)aTc>aCc	p.I7T	SLC25A44_ENST00000469537.1_3'UTR|SLC25A44_ENST00000423538.2_Missense_Mutation_p.I7T	NM_014655.2	NP_055470.1	Q96H78	S2544_HUMAN	solute carrier family 25, member 44	7					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Hepatocellular(266;0.158)					AAACGCAACATCCAGATCATC	0.507																																																0													153	142	146					1																	156169658		2203	4300	6503	SO:0001583	missense	9673			AB007915	CCDS1133.1, CCDS72943.1	1q22	2013-05-22			ENSG00000160785	ENSG00000160785		"Solute carriers"	29036	protein-coding gene	gene with protein product		610824				16949250	Standard	NM_001286184		Approved	FLJ90431, KIAA0446	uc001fnp.3	Q96H78	OTTHUMG00000014816	ENST00000359511.4:c.20T>C	chr1.hg19:g.156169658T>C	ENSP00000352497:p.Ile7Thr		O75034	Missense_Mutation	SNP	ENST00000359511.4	hg19	CCDS1133.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.365339	0.82463	.	.	ENSG00000160785	ENST00000359511;ENST00000423538;ENST00000412949	T;T	0.80824	-1.42;-1.34	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.85517	0.5715	M	0.79123	2.44	0.80722	D	1	D;D;D	0.63046	0.992;0.986;0.986	P;P;P	0.61477	0.858;0.889;0.889	D	0.87847	0.2655	10	0.72032	D	0.01	-27.8219	13.6089	0.62063	0.0:0.0:0.0:1.0	.	7;7;7	E9PGQ0;B4DGC4;Q96H78	.;.;S2544_HUMAN	T	7	ENSP00000352497:I7T;ENSP00000407560:I7T	ENSP00000352497:I7T	I	+	2	0	SLC25A44	154436282	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.778000	0.85637	2.108000	0.64289	0.528000	0.53228	ATC		0.507	SLC25A44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040856.1	NM_014655		C	156169658	T	C	156169658	3	2	663	1	0	0	0	0	1	0	0	0	14515	1435	50	3	22	3	SLC25A44	1	156169658	Missense_Mutation	SNP	T	TCGA-GL-A4EM-01A-11D-A25F-10	101751789	156169658	93080963	3	36117											
OR6K6	128371	hgsc.bcm.edu	37	1	158724869	158724869	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr1:158724869delT	ENST00000368144.2	+	1	360	c.264delT	c.(262-264)tatfs	p.Y88fs		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	88						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					CCCCTTTGTATTTCTTTATCA	0.463																																																0													156	157	157					1																	158724869		2203	4300	6503	SO:0001589	frameshift_variant	128371			BK004198	CCDS30904.1	1q23.1	2012-08-09			ENSG00000180433	ENSG00000180433		"GPCR / Class A : Olfactory receptors"	15033	protein-coding gene	gene with protein product							Standard	NM_001005184		Approved		uc001fsw.1	Q8NGW6	OTTHUMG00000022772	ENST00000368144.2:c.264delT	chr1.hg19:g.158724869delT	ENSP00000357126:p.Tyr88fs		B9EIM8|Q5VUU9|Q6IFR4	Frame_Shift_Del	DEL	ENST00000368144.2	hg19	CCDS30904.1																																																																																				0.463	OR6K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059065.2	NM_001005184		-	158724869	T	-	158724869	7	5	663	1	0	1	0	1	0	0	0	0	11206	1500	52	0	266	0	OR6K6	1	158724869	Frame_Shift_Del	DEL	T	TCGA-GL-A4EM-01A-11D-A25F-10	2555211	158724869	90525752	4	36118											
HMCN1	83872	hgsc.bcm.edu	37	1	186024754	186024754	+	Silent	SNP	T	T	A			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr1:186024754T>A	ENST00000271588.4	+	45	7321	c.7092T>A	c.(7090-7092)gtT>gtA	p.V2364V	HMCN1_ENST00000367492.2_Silent_p.V2364V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2364	Ig-like C2-type 21.				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						ATGTGTGTGTTGCTGTGAATG	0.418																																																0													152	137	142					1																	186024754		2203	4300	6503	SO:0001819	synonymous_variant	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.7092T>A	chr1.hg19:g.186024754T>A			A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	hg19	CCDS30956.1																																																																																				0.418	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		A	186024754	T	A	186024754	2	1	663	1	0	0	0	0	0	0	0	1	7222	1799	63	5		5	HMCN1	1	186024754	Silent	SNP	T	TCGA-GL-A4EM-01A-11D-A25F-10	27299885	186024754	63225867	5	36119											
PPP1R15B	84919	hgsc.bcm.edu	37	1	204379087	204379089	+	In_Frame_Del	DEL	CTA	CTA	-	rs200631983		TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10	CTA	CTA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr1:204379087_204379089delCTA	ENST00000367188.4	-	1	1830_1832	c.1451_1453delTAG	c.(1450-1455)gtagat>gat	p.V484del	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	484					ER overload response (GO:0006983)|regulation of translation (GO:0006417)|response to hydrogen peroxide (GO:0042542)	protein phosphatase type 1 complex (GO:0000164)	protein serine/threonine phosphatase activity (GO:0004722)			breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			TTATAAGGATCTACACTGCAGAA	0.448																																																0																																										SO:0001651	inframe_deletion	84919			AK027650	CCDS1445.1	1q32.1	2012-04-17	2011-10-04		ENSG00000158615	ENSG00000158615		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14951	protein-coding gene	gene with protein product		613257	"protein phosphatase 1, regulatory (inhibitor) subunit 15B"			11948623	Standard	XM_005245551		Approved	FLJ14744	uc001hav.4	Q5SWA1	OTTHUMG00000036105	ENST00000367188.4:c.1451_1453delTAG	chr1.hg19:g.204379087_204379089delCTA	ENSP00000356156:p.Val484del		Q53GQ4|Q658M2|Q6P156|Q96SN1	In_Frame_Del	DEL	ENST00000367188.4	hg19	CCDS1445.1																																																																																				0.448	PPP1R15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087974.1	NM_032833		-	204379089	CTA	-	204379087	7	5	663	1	0	1	0	1	0	0	0	0	12369	913	32	0	696	0	PPP1R15B	1	204379087	In_Frame_Del	DEL	CTA	TCGA-GL-A4EM-01A-11D-A25F-10	18354333	204379087	44871534	6	36120											
USH2A	7399	hgsc.bcm.edu	37	1	215820886	215820886	+	Silent	SNP	G	G	T			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr1:215820886G>T	ENST00000307340.3	-	67	15155	c.14769C>A	c.(14767-14769)atC>atA	p.I4923I	USH2A_ENST00000366943.2_Silent_p.I4923I	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4923	Fibronectin type-III 34. {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)		TGGTGAAACTGATCCACTCGG	0.532										HNSCC(13;0.011)																																						0													93	76	81					1																	215820886		2203	4300	6503	SO:0001819	synonymous_variant	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.14769C>A	chr1.hg19:g.215820886G>T			Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	hg19	CCDS31025.1																																																																																				0.532	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		T	215820886	G	T	215820886	2	4	663	1	0	0	0	0	0	0	0	1	17041	1280	45	4		4	USH2A	1	215820886	Silent	SNP	G	TCGA-GL-A4EM-01A-11D-A25F-10	11441799	215820886	33429735	7	36121											
OBSCN	84033	hgsc.bcm.edu	37	1	228462497	228462497	+	Missense_Mutation	SNP	G	G	C			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr1:228462497G>C	ENST00000422127.1	+	20	5952	c.5908G>C	c.(5908-5910)Gtg>Ctg	p.V1970L	RP5-1139B12.3_ENST00000602529.1_RNA|OBSCN_ENST00000570156.2_Missense_Mutation_p.V2345L|RP5-1139B12.3_ENST00000602947.1_RNA|OBSCN_ENST00000359599.6_Missense_Mutation_p.V817L|OBSCN_ENST00000284548.11_Missense_Mutation_p.V1970L|OBSCN_ENST00000366707.4_5'UTR|RP5-1139B12.2_ENST00000602517.1_RNA|OBSCN_ENST00000366709.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1970	Ig-like 19.				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)				CCAGATCACCGTGGAGGCTGA	0.652																																																0													27	33	31					1																	228462497		2133	4237	6370	SO:0001583	missense	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.5908G>C	chr1.hg19:g.228462497G>C	ENSP00000409493:p.Val1970Leu		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	hg19	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	10.37	1.331260	0.24167	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599	T;T;T	0.76448	1.01;1.01;-1.02	5.49	3.61	0.41365	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.425981	0.22964	N	0.053513	T	0.73393	0.3581	L	0.51914	1.62	0.48571	D	0.999671	B;P	0.44816	0.002;0.844	B;B	0.44085	0.005;0.44	T	0.69339	-0.5171	10	0.36615	T	0.2	.	11.1091	0.48221	0.0696:0.129:0.8014:0.0	.	1970;1970	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	L	1970;1970;817	ENSP00000284548:V1970L;ENSP00000409493:V1970L;ENSP00000352613:V817L	ENSP00000284548:V1970L	V	+	1	0	OBSCN	226529120	0.981000	0.34729	0.000000	0.03702	0.005000	0.04900	6.186000	0.72026	0.679000	0.31345	0.555000	0.69702	GTG		0.652	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		C	228462497	G	C	228462497	3	2	663	1	0	0	0	0	1	0	0	0	10814	1145	40	4	5982	4	OBSCN	1	228462497	Missense_Mutation	SNP	G	TCGA-GL-A4EM-01A-11D-A25F-10	12641611	228462497	20788124	8	36122											
PKDCC	91461	hgsc.bcm.edu	37	2	42281437	42281445	+	In_Frame_Del	DEL	AATGCCTAC	AATGCCTAC	-	rs55733961|rs371967754	byFrequency	TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10	AATGCCTAC	AATGCCTAC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr2:42281437_42281445delAATGCCTAC	ENST00000294964.5	+	3	1204_1212	c.1024_1032delAATGCCTAC	c.(1024-1032)aatgcctacdel	p.NAY342del		NM_138370.2	NP_612379.2			protein kinase domain containing, cytoplasmic											breast(2)|kidney(1)|lung(5)	8						GAACCTCTATAATGCCTACAGGTGACCTC	0.617																																																0																																										SO:0001651	inframe_deletion	91461				CCDS33186.2	2p21	2014-01-28	2012-12-07		ENSG00000162878	ENSG00000162878			25123	protein-coding gene	gene with protein product	"vertebrate lonesome kinase"	614150	"protein kinase domain containing, cytoplasmic homolog (mouse)"			19097194, 19465597	Standard	NM_138370		Approved	SgK493, Vlk	uc002rsg.3	Q504Y2	OTTHUMG00000152303	ENST00000294964.5:c.1024_1032delAATGCCTAC	chr2.hg19:g.42281437_42281445delAATGCCTAC	ENSP00000294964:p.Asn342_Tyr344del			In_Frame_Del	DEL	ENST00000294964.5	hg19	CCDS33186.2																																																																																				0.617	PKDCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325745.3			-	42281445	AATGCCTAC	-	42281437	7	5	663	1	0	1	0	1	0	0	0	0	11971	362	13	0	1034	0	PKDCC	2	42281437	In_Frame_Del	DEL	AATGCCTAC	TCGA-GL-A4EM-01A-11D-A25F-10		42281437	200917936	9	36123											
NCKAP1	10787	hgsc.bcm.edu	37	2	183826949	183826949	+	Missense_Mutation	SNP	C	C	T	rs533229025		TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr2:183826949C>T	ENST00000361354.4	-	18	2191	c.1819G>A	c.(1819-1821)Gcc>Acc	p.A607T	NCKAP1_ENST00000360982.2_Missense_Mutation_p.A613T	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	607					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)			GCTTGTTTGGCCATTTCATCT	0.348																																																0													154	142	146					2																	183826949		2203	4300	6503	SO:0001583	missense	10787			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.1819G>A	chr2.hg19:g.183826949C>T	ENSP00000355348:p.Ala607Thr		O60329|Q53QN5|Q53S94|Q53Y35	Missense_Mutation	SNP	ENST00000361354.4	hg19	CCDS2287.1	.	.	.	.	.	.	.	.	.	.	C	35	5.540632	0.96474	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.34667	1.35;1.35	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.64962	0.2646	M	0.84846	2.72	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.73708	0.981;0.967	T	0.67356	-0.5691	10	0.41790	T	0.15	-6.6139	18.773	0.91899	0.0:1.0:0.0:0.0	.	607;613	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	T	607;613	ENSP00000355348:A607T;ENSP00000354251:A613T	ENSP00000354251:A613T	A	-	1	0	NCKAP1	183535194	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.794000	0.85869	2.517000	0.84864	0.655000	0.94253	GCC		0.348	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	NM_205842		T	183826949	C	T	183826949	3	4	663	1	0	0	0	0	1	0	0	0	10223	739	26	2	1623	2	NCKAP1	2	183826949	Missense_Mutation	SNP	C	TCGA-GL-A4EM-01A-11D-A25F-10	141545512	183826949	59372424	10	36124											
IKZF2	22807	hgsc.bcm.edu	37	2	213872808	213872808	+	Splice_Site	SNP	C	C	A			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr2:213872808C>A	ENST00000434687.1	-	9	1166	c.857G>T	c.(856-858)gGg>gTg	p.G286V	IKZF2_ENST00000374319.4_Splice_Site_p.G260V|IKZF2_ENST00000413091.3_3'UTR|AC079610.1_ENST00000415387.1_RNA|IKZF2_ENST00000457361.1_Splice_Site_p.G286V|IKZF2_ENST00000342002.2_Splice_Site_p.G292V|IKZF2_ENST00000374327.4_Splice_Site_p.G141V|IKZF2_ENST00000421754.2_Splice_Site_p.G212V|IKZF2_ENST00000451136.2_Splice_Site_p.G214V			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	286					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)		GAGCTTTTCCCCTGGAAGGGA	0.373																																																0													35	35	35					2																	213872808		2203	4300	6503	SO:0001630	splice_region_variant	22807			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.857-1G>T	chr2.hg19:g.213872808C>A			Q53YJ5|Q6PQC5|Q6PQC6|Q6PQC7|Q6PQC8|Q6PQD0|Q6PQD1|Q8N6S1	Missense_Mutation	SNP	ENST00000434687.1	hg19	CCDS2395.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.154388	0.57259	.	.	ENSG00000030419	ENST00000457361;ENST00000342002;ENST00000434687;ENST00000374319;ENST00000451136;ENST00000421754;ENST00000374327	T;T;T;T;T;T;T	0.24350	2.74;2.71;2.74;2.88;2.86;3.06;1.86	5.83	5.83	0.93111	.	0.072285	0.64402	D	0.000018	T	0.60090	0.2242	M	0.88979	2.995	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;0.998;0.999;0.999	T	0.66248	-0.5971	10	0.87932	D	0	.	18.2957	0.90145	0.0:1.0:0.0:0.0	.	214;212;141;260;286;64	C9JCG7;C9JTM9;F5H8M1;Q9UKS7-2;Q9UKS7;Q96LD7	.;.;.;.;IKZF2_HUMAN;.	V	286;292;286;260;214;212;141	ENSP00000410447:G286V;ENSP00000342876:G292V;ENSP00000412869:G286V;ENSP00000363439:G260V;ENSP00000395203:G214V;ENSP00000399574:G212V;ENSP00000363447:G141V	ENSP00000342876:G292V	G	-	2	0	IKZF2	213581053	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	5.731000	0.68554	2.750000	0.94351	0.655000	0.94253	GGG		0.373	IKZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256593.3	NM_016260	Missense_Mutation	A	213872808	C	A	213872808	5	1	663	1	0	0	0	0	0	0	1	0	7617	637	22	4	727	4	IKZF2	2	213872808	Splice_Site	SNP	C	TCGA-GL-A4EM-01A-11D-A25F-10	30045859	213872808	29326565	11	36125											
PER2	8864	hgsc.bcm.edu	37	2	239162231	239162231	+	Silent	SNP	G	G	A	rs566281173	byFrequency	TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr2:239162231G>A	ENST00000254657.3	-	19	2712	c.2433C>T	c.(2431-2433)acC>acT	p.T811T	AC096574.4_ENST00000456601.1_RNA|PER2_ENST00000254658.3_3'UTR	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	811					circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		CCCCAGATCCGGTGCTCTCAG	0.572													g|||	2	0.000399361	0.0	0.0	5008	,	,		14310	0.0		0.0	False		,,,				2504	0.002															0													12	15	14					2																	239162231		2199	4298	6497	SO:0001819	synonymous_variant	8864			AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"period (Drosophila) homolog 2", "period homolog 2 (Drosophila)"			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.2433C>T	chr2.hg19:g.239162231G>A			A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Silent	SNP	ENST00000254657.3	hg19	CCDS2528.1																																																																																				0.572	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	NM_022817		A	239162231	G	A	239162231	2	1	663	1	0	0	0	0	0	0	0	1	11732	1103	39	1		1	PER2	2	239162231	Silent	SNP	G	TCGA-GL-A4EM-01A-11D-A25F-10	25289423	239162231	4037142	12	36126											
DNAH1	25981	hgsc.bcm.edu	37	3	52429465	52429465	+	Missense_Mutation	SNP	T	T	A			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr3:52429465T>A	ENST00000420323.2	+	69	11371	c.11110T>A	c.(11110-11112)Tcc>Acc	p.S3704T		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3769					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)		CTCTGCCATCTCCCTGGGCCA	0.627																																																0													36	38	37					3																	52429465		1924	4124	6048	SO:0001583	missense	25981			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.11110T>A	chr3.hg19:g.52429465T>A	ENSP00000401514:p.Ser3704Thr		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	hg19	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	T	19.51	3.840907	0.71488	.	.	ENSG00000114841	ENST00000420323;ENST00000273600	T	0.14022	2.54	4.38	4.38	0.52667	.	0.000000	0.64402	D	0.000005	T	0.57110	0.2031	H	0.99435	4.565	0.45366	D	0.998355	D;D	0.89917	1.0;0.99	D;D	0.85130	0.997;0.979	T	0.76963	-0.2764	10	0.87932	D	0	.	13.7712	0.63026	0.0:0.0:0.0:1.0	.	3704;3769	C9JXH6;Q9P2D7-2	.;.	T	3704;457	ENSP00000401514:S3704T	ENSP00000273600:S457T	S	+	1	0	DNAH1	52404505	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.531000	0.81973	1.837000	0.53436	0.533000	0.62120	TCC		0.627	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		A	52429465	T	A	52429465	3	1	663	1	0	0	0	0	1	0	0	0	4599	1551	54	5	11380	5	DNAH1	3	52429465	Missense_Mutation	SNP	T	TCGA-GL-A4EM-01A-11D-A25F-10		52429465	145592965	13	36127											
EPHA3	2042	hgsc.bcm.edu	37	3	89478285	89478285	+	Missense_Mutation	SNP	A	A	C			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr3:89478285A>C	ENST00000336596.2	+	12	2329	c.2104A>C	c.(2104-2106)Atg>Ctg	p.M702L	EPHA3_ENST00000494014.1_Missense_Mutation_p.M702L	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	702	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)		CACAGAATACATGGAGAATGG	0.299										TSP Lung(6;0.00050)																																						0													111	116	114					3																	89478285		2203	4299	6502	SO:0001583	missense	2042			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.2104A>C	chr3.hg19:g.89478285A>C	ENSP00000337451:p.Met702Leu		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	hg19	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	A	26.9	4.781520	0.90282	.	.	ENSG00000044524	ENST00000336596;ENST00000494014	T;T	0.62639	0.01;0.01	5.68	5.68	0.88126	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	T	0.70228	0.3200	L	0.39020	1.185	0.80722	D	1	P	0.50710	0.938	D	0.65773	0.938	T	0.67964	-0.5534	9	.	.	.	.	16.2237	0.82280	1.0:0.0:0.0:0.0	.	702	P29320	EPHA3_HUMAN	L	702	ENSP00000337451:M702L;ENSP00000419190:M702L	.	M	+	1	0	EPHA3	89560975	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.287000	0.95975	2.289000	0.77006	0.482000	0.46254	ATG		0.299	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		C	89478285	A	C	89478285	3	2	663	1	0	0	0	0	1	0	0	0	5170	217	8	5	2176	5	EPHA3	3	89478285	Missense_Mutation	SNP	A	TCGA-GL-A4EM-01A-11D-A25F-10	37048820	89478285	108544145	14	36128											
CP	1356	hgsc.bcm.edu	37	3	148924070	148924070	+	Missense_Mutation	SNP	T	T	G			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr3:148924070T>G	ENST00000264613.6	-	6	1355	c.1093A>C	c.(1093-1095)Aat>Cat	p.N365H		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	365					cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	CCACGGATATTATCCTTTGAT	0.408																																																0													140	137	138					3																	148924070		2203	4300	6503	SO:0001583	missense	1356			M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.1093A>C	chr3.hg19:g.148924070T>G	ENSP00000264613:p.Asn365His		Q14063|Q2PP18|Q9UKS4	Missense_Mutation	SNP	ENST00000264613.6	hg19	CCDS3141.1	.	.	.	.	.	.	.	.	.	.	T	11.00	1.511691	0.27036	.	.	ENSG00000047457	ENST00000264613;ENST00000494544	D;D	0.99239	-5.04;-5.61	5.81	-5.54	0.02544	.	1.443030	0.03609	N	0.234542	D	0.97785	0.9273	L	0.53249	1.67	0.09310	N	1	B;B;B;B	0.28128	0.0;0.201;0.0;0.0	B;B;B;B	0.24848	0.0;0.056;0.0;0.0	D	0.94485	0.7696	10	0.39692	T	0.17	0.0553	13.1324	0.59391	0.0:0.1357:0.1004:0.7639	.	365;365;365;365	A5PL27;A8K5A4;P00450;Q1L857	.;.;CERU_HUMAN;.	H	365;148	ENSP00000264613:N365H;ENSP00000420545:N148H	ENSP00000264613:N365H	N	-	1	0	CP	150406760	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.776000	0.04674	-1.021000	0.03350	-0.242000	0.12053	AAT		0.408	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096		G	148924070	T	G	148924070	3	3	663	1	0	0	0	0	1	0	0	0	3789	1754	61	5	2160	5	CP	3	148924070	Missense_Mutation	SNP	T	TCGA-GL-A4EM-01A-11D-A25F-10	59445785	148924070	49098360	15	36129											
CPZ	8532	hgsc.bcm.edu	37	4	8621250	8621250	+	Missense_Mutation	SNP	G	G	A	rs144042196		TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr4:8621250G>A	ENST00000360986.4	+	11	2039	c.1865G>A	c.(1864-1866)cGc>cAc	p.R622H	CPZ_ENST00000429646.2_Missense_Mutation_p.R230H|CPZ_ENST00000382480.2_Missense_Mutation_p.R485H|CPZ_ENST00000315782.6_Missense_Mutation_p.R611H	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	622					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						CTCCGGGCGCGCAGGCAGCCC	0.672																																																0								G	HIS/ARG,HIS/ARG,HIS/ARG	0,4402		0,0,2201	28	31	30		1865,1454,1832	2.1	0.1	4	dbSNP_134	30	1,8595	1.2+/-3.3	0,1,4297	yes	missense,missense,missense	CPZ	NM_001014447.2,NM_001014448.2,NM_003652.3	29,29,29	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	622/653,485/516,611/642	8621250	1,12997	2201	4298	6499	SO:0001583	missense	8532			U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"metallocarboxypeptidase Z"	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.1865G>A	chr4.hg19:g.8621250G>A	ENSP00000354255:p.Arg622His		O00520|Q96MX2	Missense_Mutation	SNP	ENST00000360986.4	hg19	CCDS33953.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.677115	0.47886	0.0	1.16E-4	ENSG00000109625	ENST00000360986;ENST00000382480;ENST00000315782;ENST00000429646	T;T;T;T	0.58940	0.62;1.98;0.3;1.86	4.82	2.09	0.27110	.	0.624251	0.13588	U	0.376803	T	0.51873	0.1700	M	0.62723	1.935	0.09310	N	0.999999	B;B	0.18013	0.025;0.006	B;B	0.10450	0.005;0.001	T	0.46610	-0.9179	10	0.46703	T	0.11	-25.7306	8.9438	0.35747	0.2406:0.0:0.7594:0.0	.	611;622	Q66K79-2;Q66K79	.;CBPZ_HUMAN	H	622;485;611;230	ENSP00000354255:R622H;ENSP00000371920:R485H;ENSP00000315074:R611H;ENSP00000403981:R230H	ENSP00000315074:R611H	R	+	2	0	CPZ	8672150	0.003000	0.15002	0.094000	0.20943	0.121000	0.20230	0.793000	0.26944	0.448000	0.26722	0.462000	0.41574	CGC		0.672	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207001.4	NM_003652		A	8621250	G	A	8621250	3	1	663	1	0	0	0	0	1	0	0	0	3841	1087	38	1	1907	1	CPZ	4	8621250	Missense_Mutation	SNP	G	TCGA-GL-A4EM-01A-11D-A25F-10		8621250	182533026	16	36130											
GRID2	2895	hgsc.bcm.edu	37	4	94690404	94690404	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr4:94690404C>T	ENST00000282020.4	+	15	2662	c.2404C>T	c.(2404-2406)Cac>Tac	p.H802Y	GRID2_ENST00000510992.1_Missense_Mutation_p.H707Y	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	802					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)		CATCCTGAAGCACAAATGGTG	0.483																																																0													124	117	119					4																	94690404		2203	4300	6503	SO:0001583	missense	2895			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.2404C>T	chr4.hg19:g.94690404C>T	ENSP00000282020:p.His802Tyr		E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	hg19	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	C	19.45	3.829280	0.71258	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.26957	1.7;1.7	5.17	5.17	0.71159	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.054536	0.64402	D	0.000001	T	0.16514	0.0397	N	0.08118	0	0.58432	D	0.999992	B;B	0.30584	0.286;0.286	B;B	0.26693	0.072;0.072	T	0.11324	-1.0592	10	0.87932	D	0	.	18.7052	0.91635	0.0:1.0:0.0:0.0	.	707;802	E9PH24;O43424	.;GRID2_HUMAN	Y	802;707	ENSP00000282020:H802Y;ENSP00000421257:H707Y	ENSP00000282020:H802Y	H	+	1	0	GRID2	94909427	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.713000	0.54882	2.415000	0.81967	0.650000	0.86243	CAC		0.483	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			T	94690404	C	T	94690404	3	4	663	1	0	0	0	0	1	0	0	0	6774	710	25	2	2462	2	GRID2	4	94690404	Missense_Mutation	SNP	C	TCGA-GL-A4EM-01A-11D-A25F-10	86069154	94690404	96463872	17	36131											
ZCCHC10	54819	hgsc.bcm.edu	37	5	132342536	132342536	+	Silent	SNP	T	T	G			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr5:132342536T>G	ENST00000509437.1	-	3	191	c.184A>C	c.(184-186)Aga>Cga	p.R62R	ZCCHC10_ENST00000509008.1_Silent_p.R40R|ZCCHC10_ENST00000508080.1_5'UTR|ZCCHC10_ENST00000513848.1_Silent_p.R40R|ZCCHC10_ENST00000513541.1_Silent_p.R62R|ZCCHC10_ENST00000324170.3_Silent_p.R40R|ZCCHC10_ENST00000355372.2_Silent_p.R62R			Q8TBK6	ZCH10_HUMAN	zinc finger, CCHC domain containing 10	62							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGGTATTTTCTTTTTCCTGTG	0.338																																																0													91	83	85					5																	132342536		2201	4298	6499	SO:0001819	synonymous_variant	54819			BC005211	CCDS4165.1, CCDS75300.1, CCDS75301.1, CCDS75302.1	5q31.1	2008-05-02			ENSG00000155329	ENSG00000155329		"Zinc fingers, CCHC domain containing"	25954	protein-coding gene	gene with protein product						12477932	Standard	XM_005272024		Approved	FLJ20094	uc003kyg.3	Q8TBK6	OTTHUMG00000129013	ENST00000509437.1:c.184A>C	chr5.hg19:g.132342536T>G			Q9NXR4	Silent	SNP	ENST00000509437.1	hg19																																																																																					0.338	ZCCHC10-004	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000370163.1	NM_017665		G	132342536	T	G	132342536	2	3	663	1	0	0	0	0	0	0	0	1	17584	1617	56	5		5	ZCCHC10	5	132342536	Silent	SNP	T	TCGA-GL-A4EM-01A-11D-A25F-10		132342536	48572724	18	36132											
COL12A1	1303	hgsc.bcm.edu	37	6	75860944	75860944	+	Missense_Mutation	SNP	G	G	T			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr6:75860944G>T	ENST00000322507.8	-	21	4369	c.4060C>A	c.(4060-4062)Cat>Aat	p.H1354N	COL12A1_ENST00000416123.2_Missense_Mutation_p.H1354N|COL12A1_ENST00000345356.6_Missense_Mutation_p.H190N|COL12A1_ENST00000483888.2_Missense_Mutation_p.H1354N	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1354	VWFA 3. {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						TTGTATGCATGGGTATCATCA	0.368																																																0													171	170	170					6																	75860944		1901	4128	6029	SO:0001583	missense	1303			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens", "Fibronectin type III domain containing"	2188	protein-coding gene	gene with protein product	"collagen type XII proteoglycan"	120320	"collagen, type XII, alpha 1-like"	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.4060C>A	chr6.hg19:g.75860944G>T	ENSP00000325146:p.His1354Asn		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	hg19	CCDS43482.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.98|18.98	3.738638|3.738638	0.69304|0.69304	.|.	.|.	ENSG00000111799|ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888|ENST00000419671	D;D;D;D|.	0.84516|.	-1.86;-1.86;-1.86;-1.86|.	5.6|5.6	5.6|5.6	0.85130|0.85130	von Willebrand factor, type A (3);|.	0.072196|.	0.64402|.	D|.	0.000020|.	T|T	0.57548|0.57548	0.2061|0.2061	M|M	0.63169|0.63169	1.94|1.94	0.49915|0.49915	D|D	0.999831|0.999831	B;D|.	0.60575|.	0.345;0.988|.	B;D|.	0.64237|.	0.199;0.923|.	T|T	0.57289|0.57289	-0.7837|-0.7837	10|5	0.66056|.	D|.	0.02|.	.|.	12.886|12.886	0.58045|0.58045	0.0744:0.0:0.9256:0.0|0.0744:0.0:0.9256:0.0	.|.	190;1354|.	Q99715-2;Q99715|.	.;COCA1_HUMAN|.	N|Q	1354;1354;190;1354;1354|95	ENSP00000325146:H1354N;ENSP00000305147:H190N;ENSP00000412864:H1354N;ENSP00000421216:H1354N|.	ENSP00000325146:H1354N|.	H|P	-|-	1|2	0|0	COL12A1|COL12A1	75917664|75917664	1.000000|1.000000	0.71417|0.71417	0.509000|0.509000	0.27700|0.27700	0.925000|0.925000	0.55904|0.55904	7.690000|7.690000	0.84178|0.84178	2.631000|2.631000	0.89168|0.89168	0.655000|0.655000	0.94253|0.94253	CAT|CCA		0.368	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		T	75860944	G	T	75860944	3	4	663	1	0	0	0	0	1	0	0	0	3671	1348	47	4	5315	4	COL12A1	6	75860944	Missense_Mutation	SNP	G	TCGA-GL-A4EM-01A-11D-A25F-10		75860944	95254123	19	36133											
MYO6	4646	hgsc.bcm.edu	37	6	76602272	76602272	+	Missense_Mutation	SNP	G	G	C	rs529167250		TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr6:76602272G>C	ENST00000369977.3	+	28	3111	c.2972G>C	c.(2971-2973)cGa>cCa	p.R991P	MYO6_ENST00000369981.3_Missense_Mutation_p.R991P|MYO6_ENST00000369985.4_Missense_Mutation_p.R991P|MYO6_ENST00000369975.1_Missense_Mutation_p.R991P	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	991	Glu-rich.				actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		CAGCTGGCCCGACAGAAGGAG	0.532																																																0													100	109	106					6																	76602272		2203	4300	6503	SO:0001583	missense	4646			U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"Myosins / Myosin superfamily : Class VI"	7605	protein-coding gene	gene with protein product		600970	"deafness, autosomal recessive 37"	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.2972G>C	chr6.hg19:g.76602272G>C	ENSP00000358994:p.Arg991Pro		A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Missense_Mutation	SNP	ENST00000369977.3	hg19	CCDS34487.1	.	.	.	.	.	.	.	.	.	.	G	9.868	1.198055	0.22037	.	.	ENSG00000196586	ENST00000428345;ENST00000369981;ENST00000369985;ENST00000369977;ENST00000369975;ENST00000430435	T;T;T;T;T	0.58060	2.07;2.59;2.59;2.07;0.36	5.75	3.97	0.46021	.	0.350255	0.33477	N	0.004873	T	0.55210	0.1906	L	0.61218	1.895	0.09310	N	1	B;D	0.62365	0.086;0.991	B;D	0.67548	0.049;0.952	T	0.50939	-0.8768	10	0.72032	D	0.01	.	11.8787	0.52562	0.1401:0.0:0.8599:0.0	.	991;991	Q9UM54-2;Q9UM54-1	.;.	P	991;991;991;991;991;54	ENSP00000358998:R991P;ENSP00000359002:R991P;ENSP00000358994:R991P;ENSP00000358992:R991P;ENSP00000399406:R54P	ENSP00000358992:R991P	R	+	2	0	MYO6	76658992	0.031000	0.19500	0.018000	0.16275	0.286000	0.27126	0.655000	0.24933	1.448000	0.47680	0.491000	0.48974	CGA		0.532	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	NM_004999		C	76602272	G	C	76602272	3	2	663	1	0	0	0	0	1	0	0	0	10083	1058	37	4	3078	4	MYO6	6	76602272	Missense_Mutation	SNP	G	TCGA-GL-A4EM-01A-11D-A25F-10	741328	76602272	94512795	20	36134											
C6orf167	253714	hgsc.bcm.edu	37	6	97629854	97629854	+	Silent	SNP	A	A	T			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr6:97629854A>T	ENST00000275053.4	-	16	2575	c.2310T>A	c.(2308-2310)atT>atA	p.I770I	MMS22L_ENST00000369251.2_Silent_p.I730I	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	770					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						CAAAAAGTTGAATAATTGATA	0.373																																																0													174	169	171					6																	97629854		2203	4300	6503	SO:0001819	synonymous_variant	253714				CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"chromosome 6 open reading frame 167"	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.2310T>A	chr6.hg19:g.97629854A>T			D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Silent	SNP	ENST00000275053.4	hg19	CCDS5039.1																																																																																				0.373	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041573.3	NM_198468		T	97629854	A	T	97629854	2	4	663	1	0	0	0	0	0	0	0	1	2344	242	9	5		5	C6orf167	6	97629854	Silent	SNP	A	TCGA-GL-A4EM-01A-11D-A25F-10	21027582	97629854	73485213	21	36135											
SERINC1	57515	hgsc.bcm.edu	37	6	122777747	122777747	+	Silent	SNP	A	A	G			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr6:122777747A>G	ENST00000339697.4	-	3	334	c.250T>C	c.(250-252)Ttg>Ctg	p.L84L		NM_020755.2	NP_065806.1	Q9NRX5	SERC1_HUMAN	serine incorporator 1	84					L-serine transport (GO:0015825)|phosphatidylserine metabolic process (GO:0006658)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1)	13				GBM - Glioblastoma multiforme(226;0.126)		TAGCCAACCAAAATGTTACAA	0.333																																																0													125	110	115					6																	122777747		2203	4300	6503	SO:0001819	synonymous_variant	57515			AF087902	CCDS5125.1	6q22.32	2006-02-09	2005-10-14	2005-10-14	ENSG00000111897	ENSG00000111897			13464	protein-coding gene	gene with protein product		614548	"tumor differentially expressed 2"	TDE2		10637174	Standard	NM_020755		Approved	TMS-2, TDE1L, KIAA1253	uc003pyy.1	Q9NRX5	OTTHUMG00000015487	ENST00000339697.4:c.250T>C	chr6.hg19:g.122777747A>G			B3KY69|E1P565|O75655|Q7Z2F5|Q8TAG1|Q9NTH8|Q9ULG7	Silent	SNP	ENST00000339697.4	hg19	CCDS5125.1																																																																																				0.333	SERINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042031.2	NM_020755		G	122777747	A	G	122777747	2	3	663	1	0	0	0	0	0	0	0	1	14085	11	1	3		3	SERINC1	6	122777747	Silent	SNP	A	TCGA-GL-A4EM-01A-11D-A25F-10	25147893	122777747	48337320	22	36136											
SP4	6671	hgsc.bcm.edu	37	7	21469335	21469335	+	Silent	SNP	T	T	C			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr7:21469335T>C	ENST00000222584.3	+	3	770	c.552T>C	c.(550-552)acT>acC	p.T184T		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	184					regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						TCAATCCAACTAGTAGTTCAT	0.398																																																0													77	74	75					7																	21469335		2203	4300	6503	SO:0001819	synonymous_variant	6671				CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.552T>C	chr7.hg19:g.21469335T>C			O60402|Q32M52	Silent	SNP	ENST00000222584.3	hg19	CCDS5373.1																																																																																				0.398	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211617.2	NM_003112		C	21469335	T	C	21469335	2	2	663	1	0	0	0	0	0	0	0	1	14972	1509	53	3		3	SP4	7	21469335	Silent	SNP	T	TCGA-GL-A4EM-01A-11D-A25F-10		21469335	137669328	23	36137											
MYO1G	64005	hgsc.bcm.edu	37	7	45010552	45010552	+	Missense_Mutation	SNP	G	G	T			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr7:45010552G>T	ENST00000258787.7	-	8	1089	c.953C>A	c.(952-954)cCc>cAc	p.P318H		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	318	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						GAGGTCCCGGGGTGTGGCCGT	0.657																																																0													57	47	50					7																	45010552		2202	4300	6502	SO:0001583	missense	64005			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.953C>A	chr7.hg19:g.45010552G>T	ENSP00000258787:p.Pro318His		Q8TEI9|Q8TES2|Q96BE2|Q96RI5|Q96RI6	Missense_Mutation	SNP	ENST00000258787.7	hg19	CCDS34629.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.075212	0.55646	.	.	ENSG00000136286	ENST00000258787	D	0.87029	-2.2	5.3	4.36	0.52297	Myosin head, motor domain (2);	0.183757	0.26598	N	0.023498	D	0.86871	0.6037	L	0.42744	1.35	0.09310	N	1	P;P	0.50528	0.936;0.848	P;P	0.53401	0.725;0.722	T	0.79472	-0.1789	10	0.46703	T	0.11	.	11.939	0.52890	0.0:0.2921:0.7079:0.0	.	318;318	B0I1T2-4;B0I1T2	.;MYO1G_HUMAN	H	318	ENSP00000258787:P318H	ENSP00000258787:P318H	P	-	2	0	MYO1G	44977077	0.000000	0.05858	0.428000	0.26697	0.808000	0.45660	0.514000	0.22786	2.649000	0.89929	0.655000	0.94253	CCC		0.657	MYO1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341832.2			T	45010552	G	T	45010552	3	4	663	1	0	0	0	0	1	0	0	0	10076	1232	43	4	2163	4	MYO1G	7	45010552	Missense_Mutation	SNP	G	TCGA-GL-A4EM-01A-11D-A25F-10	23541217	45010552	114128111	24	36138											
TMC1	117531	hgsc.bcm.edu	37	9	75355127	75355127	+	Splice_Site	SNP	T	T	C			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr9:75355127T>C	ENST00000297784.5	+	9	993		c.e9+2		TMC1_ENST00000340019.3_Splice_Site|TMC1_ENST00000396237.3_Splice_Site	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1						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						ATGGCCAAGGTAGGTATTTTT	0.358																																					Pancreas(75;173 1345 14232 34245 43413)											0													105	108	107					9																	75355127		2203	4300	6503	SO:0001630	splice_region_variant	117531			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.453+2T>C	chr9.hg19:g.75355127T>C			A8MVZ2|B1AM91	Splice_Site	SNP	ENST00000297784.5	hg19	CCDS6643.1	.	.	.	.	.	.	.	.	.	.	T	13.49	2.251532	0.39797	.	.	ENSG00000165091	ENST00000297784;ENST00000340019;ENST00000396235;ENST00000537917;ENST00000538054;ENST00000542143;ENST00000396237	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2221	0.54439	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	TMC1	74544947	1.000000	0.71417	0.998000	0.56505	0.532000	0.34746	3.240000	0.51368	2.133000	0.65898	0.533000	0.62120	.		0.358	TMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052655.1		Intron	C	75355127	T	C	75355127	5	2	663	1	0	0	0	0	0	0	1	0	15989	1652	57	3	473	3	TMC1	9	75355127	Splice_Site	SNP	T	TCGA-GL-A4EM-01A-11D-A25F-10		75355127	65858304	25	36139											
COBRA1	25920	hgsc.bcm.edu	37	9	140158762	140158762	+	Silent	SNP	G	G	A			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr9:140158762G>A	ENST00000343053.4	+	6	1186	c.849G>A	c.(847-849)ctG>ctA	p.L283L		NM_015456.3	NP_056271.2	Q8WX92	NELFB_HUMAN	negative elongation factor complex member B	283					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)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											CGCGGGAGCTGCAGGGGTTTC	0.672																																																0													63	61	62					9																	140158762		2201	4299	6500	SO:0001819	synonymous_variant	25920			AF464935	CCDS7040.1	9q34	2013-01-31	2013-01-31	2013-01-31	ENSG00000188986	ENSG00000188986			24324	protein-coding gene	gene with protein product		611180	"cofactor of BRCA1"	COBRA1		11230166, 10574461, 17910036, 17659869	Standard	NM_015456		Approved	KIAA1182, NELF-B	uc004cmm.4	Q8WX92	OTTHUMG00000131778	ENST00000343053.4:c.849G>A	chr9.hg19:g.140158762G>A			A2BFA3|Q96EW5|Q9H9R4|Q9ULN8|Q9Y3W0	Silent	SNP	ENST00000343053.4	hg19	CCDS7040.1																																																																																				0.672	NELFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254710.1	NM_015456		A	140158762	G	A	140158762	2	1	663	1	0	0	0	0	0	0	0	1	3657	1306	46	2		2	COBRA1	9	140158762	Silent	SNP	G	TCGA-GL-A4EM-01A-11D-A25F-10	64803635	140158762	1054669	26	36140											
C10orf18	54906	hgsc.bcm.edu	37	10	5781661	5781661	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr10:5781661C>T	ENST00000328090.5	+	13	2153	c.1528C>T	c.(1528-1530)Caa>Taa	p.Q510*	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	510																	AAATAGTGTTCAACCAGAAAA	0.383																																																0													99	93	95					10																	5781661		1895	4126	6021	SO:0001587	stop_gained	54906			BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 18"	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.1528C>T	chr10.hg19:g.5781661C>T	ENSP00000328426:p.Gln510*		Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Nonsense_Mutation	SNP	ENST00000328090.5	hg19	CCDS41485.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.453755|6.453755	0.97581|0.97581	.|.	.|.	ENSG00000108021|ENSG00000108021	ENST00000328090|ENST00000380270	.|.	.|.	.|.	5.72|5.72	3.81|3.81	0.43845|0.43845	.|.	0.212671|.	0.33144|.	N|.	0.005222|.	.|T	.|0.63920	.|0.2552	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69379	.|-0.5161	.|3	0.25106|.	T|.	0.35|.	.|.	13.9222|13.9222	0.63940|0.63940	0.0:0.556:0.444:0.0|0.0:0.556:0.444:0.0	.|.	.|.	.|.	.|.	X|L	510|208	.|.	ENSP00000328426:Q510X|.	Q|S	+|+	1|2	0|0	C10orf18|C10orf18	5821667|5821667	0.722000|0.722000	0.28017|0.28017	0.029000|0.029000	0.17559|0.17559	0.010000|0.010000	0.07245|0.07245	1.851000|1.851000	0.39338|0.39338	0.699000|0.699000	0.31761|0.31761	-0.274000|-0.274000	0.10170|0.10170	CAA|TCA		0.383	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		T	5781661	C	T	5781661	4	4	663	1	0	0	0	0	0	1	0	0	1598	827	29	2	1566	2	C10orf18	10	5781661	Nonsense_Mutation	SNP	C	TCGA-GL-A4EM-01A-11D-A25F-10		5781661	129753086	27	36141											
EPC1	80314	hgsc.bcm.edu	37	10	32573863	32573863	+	Missense_Mutation	SNP	T	T	A			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr10:32573863T>A	ENST00000263062.8	-	10	1776	c.1507A>T	c.(1507-1509)Aca>Tca	p.T503S	EPC1_ENST00000319778.6_Missense_Mutation_p.T503S|EPC1_ENST00000375110.2_Missense_Mutation_p.T453S|RP11-166N17.3_ENST00000419441.1_RNA	NM_025209.2	NP_079485.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	503					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of gene expression, epigenetic (GO:0045814)|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)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				GAGGTATTTGTTTCTGAGGTA	0.423																																																0													145	139	141					10																	32573863		2203	4300	6503	SO:0001583	missense	80314			AF277374	CCDS7172.1, CCDS60511.1, CCDS73083.1	10p11	2005-12-12			ENSG00000120616	ENSG00000120616			19876	protein-coding gene	gene with protein product		610999				10976108	Standard	NM_025209		Approved	Epl1	uc001iwg.2	Q9H2F5	OTTHUMG00000017925	ENST00000263062.8:c.1507A>T	chr10.hg19:g.32573863T>A	ENSP00000263062:p.Thr503Ser		B4DSC3|D3DRX7|Q5VW54|Q5VW56|Q5VW58|Q8NAQ4|Q8NE21|Q96LF4|Q96RR6|Q9H7T7	Missense_Mutation	SNP	ENST00000263062.8	hg19	CCDS7172.1	.	.	.	.	.	.	.	.	.	.	T	16.87	3.240893	0.58995	.	.	ENSG00000120616	ENST00000375110;ENST00000319778;ENST00000263062	T;T;T	0.16743	2.32;2.32;2.32	6.07	4.93	0.64822	.	0.132659	0.64402	D	0.000002	T	0.19485	0.0468	L	0.56769	1.78	0.37213	D	0.904872	B;B;B	0.26512	0.019;0.003;0.151	B;B;B	0.27796	0.031;0.027;0.083	T	0.06391	-1.0829	10	0.25106	T	0.35	-3.2229	13.751	0.62908	0.0:0.0:0.1278:0.8721	.	453;503;503	Q9H2F5-3;Q9H2F5-2;Q9H2F5	.;.;EPC1_HUMAN	S	453;503;503	ENSP00000364251:T453S;ENSP00000318559:T503S;ENSP00000263062:T503S	ENSP00000263062:T503S	T	-	1	0	EPC1	32613869	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.783000	0.68982	1.080000	0.41073	0.533000	0.62120	ACA		0.423	EPC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047484.1			A	32573863	T	A	32573863	3	1	663	1	0	0	0	0	1	0	0	0	5162	1725	60	5	1027	5	EPC1	10	32573863	Missense_Mutation	SNP	T	TCGA-GL-A4EM-01A-11D-A25F-10	26792202	32573863	102960884	28	36142											
MBL2	4153	hgsc.bcm.edu	37	10	54527970	54527970	+	Missense_Mutation	SNP	A	A	G			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr10:54527970A>G	ENST00000373968.3	-	4	738	c.674T>C	c.(673-675)cTa>cCa	p.L225P		NM_000242.2	NP_000233.1	P11226	MBL2_HUMAN	mannose-binding lectin (protein C) 2, soluble	225	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						ATTTTTCAGTAGCAATACACA	0.502																																																0													379	337	351					10																	54527970		2202	4300	6502	SO:0001583	missense	4153			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.674T>C	chr10.hg19:g.54527970A>G	ENSP00000363079:p.Leu225Pro		Q4VB12|Q4VB13|Q4VB14|Q5SQS3|Q86SI4|Q96KE4|Q96TF7|Q96TF8|Q96TF9	Missense_Mutation	SNP	ENST00000373968.3	hg19	CCDS7247.1	.	.	.	.	.	.	.	.	.	.	A	17.66	3.444961	0.63178	.	.	ENSG00000165471	ENST00000373968	T	0.24350	1.86	5.13	5.13	0.70059	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	1.028080	0.07735	N	0.945891	T	0.66137	0.2759	H	0.95611	3.695	0.22811	N	0.99871	D	0.89917	1.0	D	0.85130	0.997	T	0.56805	-0.7918	10	0.87932	D	0	-1.5247	13.1902	0.59706	1.0:0.0:0.0:0.0	.	225	P11226	MBL2_HUMAN	P	225	ENSP00000363079:L225P	ENSP00000363079:L225P	L	-	2	0	MBL2	54197976	0.066000	0.20996	0.003000	0.11579	0.002000	0.02628	4.043000	0.57354	2.048000	0.60808	0.482000	0.46254	CTA		0.502	MBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048115.1	NM_000242		G	54527970	A	G	54527970	3	3	663	1	0	0	0	0	1	0	0	0	9352	420	15	3	76	3	MBL2	10	54527970	Missense_Mutation	SNP	A	TCGA-GL-A4EM-01A-11D-A25F-10	21954107	54527970	81006777	29	36143											
CCDC86	79080	hgsc.bcm.edu	37	11	60609627	60609627	+	Silent	SNP	G	G	T			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr11:60609627G>T	ENST00000227520.5	+	1	84	c.30G>T	c.(28-30)cgG>cgT	p.R10R	RP11-804A23.4_ENST00000538705.1_RNA|RP11-804A23.2_ENST00000539897.1_RNA	NM_024098.3	NP_077003.1	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	10					viral process (GO:0016032)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3)	10						GCAGCCGACGGCTGGGAGGCC	0.642																																																0													15	16	15					11																	60609627		2187	4274	6461	SO:0001819	synonymous_variant	79080			AK025974	CCDS7993.1	11q12.2	2006-03-16			ENSG00000110104	ENSG00000110104			28359	protein-coding gene	gene with protein product		611293					Standard	NM_024098		Approved	MGC2574	uc001nqa.2	Q9H6F5	OTTHUMG00000167706	ENST00000227520.5:c.30G>T	chr11.hg19:g.60609627G>T			B4DY99	Silent	SNP	ENST00000227520.5	hg19	CCDS7993.1																																																																																				0.642	CCDC86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395743.1	NM_024098		T	60609627	G	T	60609627	2	4	663	1	0	0	0	0	0	0	0	1	2863	1190	42	4		4	CCDC86	11	60609627	Silent	SNP	G	TCGA-GL-A4EM-01A-11D-A25F-10		60609627	74396889	30	36144											
RNASEH2C	84153	hgsc.bcm.edu	37	11	65487867	65487867	+	Frame_Shift_Del	DEL	C	C	-	rs554234154		TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr11:65487867delC	ENST00000308418.4	-	2	382	c.194delG	c.(193-195)ggcfs	p.G65fs	RNASEH2C_ENST00000527610.1_Frame_Shift_Del_p.G65fs|RNASEH2C_ENST00000528220.1_5'UTR	NM_032193.3	NP_115569.2	Q8TDP1	RNH2C_HUMAN	ribonuclease H2, subunit C	65					RNA catabolic process (GO:0006401)	nucleus (GO:0005634)|ribonuclease H2 complex (GO:0032299)				cervix(1)	1						TAGACAGCGGCCCCGAAACGA	0.677																																																0													41	48	46					11																	65487867		2201	4296	6497	SO:0001589	frameshift_variant	84153			AF312034	CCDS8111.1	11q13.1	2014-09-17							24116	protein-coding gene	gene with protein product	"Aicardi-Goutieres syndrome 3"	610330				8244390, 16845400	Standard	NM_032193		Approved	AYP1, AGS3	uc001ofn.3	Q8TDP1		ENST00000308418.4:c.194delG	chr11.hg19:g.65487867delC	ENSP00000308193:p.Gly65fs		Q9H7F5	Frame_Shift_Del	DEL	ENST00000308418.4	hg19	CCDS8111.1																																																																																				0.677	RNASEH2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390693.2	NM_032193		-	65487867	C	-	65487867	7	5	663	1	0	1	0	1	0	0	0	0	13420	739	26	0	312	0	RNASEH2C	11	65487867	Frame_Shift_Del	DEL	C	TCGA-GL-A4EM-01A-11D-A25F-10	4878240	65487867	69518649	31	36145											
SF3B2	10992	hgsc.bcm.edu	37	11	65835416	65835416	+	Splice_Site	SNP	G	G	T			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr11:65835416G>T	ENST00000322535.6	+	20	2379		c.e20-1		RP11-1167A19.2_ENST00000529036.1_Intron|SF3B2_ENST00000528302.1_Splice_Site|PACS1_ENST00000320580.4_5'Flank	NM_006842.2	NP_006833.2	Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa						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						GTCCTTCGCAGAAGTGAGACA	0.522											OREG0021094	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													128	127	127					11																	65835416		2201	4295	6496	SO:0001630	splice_region_variant	10992			U41371	CCDS31612.1	11q13	2010-07-21	2002-08-29		ENSG00000087365	ENSG00000087365			10769	protein-coding gene	gene with protein product		605591	"splicing factor 3b, subunit 2, 145kD"			8566756	Standard	XM_005273726		Approved	SAP145, SF3b1, Cus1, SF3b145	uc001ogy.1	Q13435	OTTHUMG00000166751	ENST00000322535.6:c.2331-1G>T	chr11.hg19:g.65835416G>T		1087	A8K485|B4DT19|Q7L4T5|Q7Z627|Q969K1|Q96CM6|Q9BWD2	Splice_Site	SNP	ENST00000322535.6	hg19	CCDS31612.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.076483	0.76415	.	.	ENSG00000087365	ENST00000528302;ENST00000322535;ENST00000355456	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4726	0.87650	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SF3B2	65591992	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	9.236000	0.95360	2.719000	0.93026	0.555000	0.69702	.		0.522	SF3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391352.2		Intron	T	65835416	G	T	65835416	5	4	663	1	0	0	0	0	0	0	1	0	14157	956	33	4	2408	4	SF3B2	11	65835416	Splice_Site	SNP	G	TCGA-GL-A4EM-01A-11D-A25F-10	347549	65835416	69171100	32	36146											
PANX1	24145	hgsc.bcm.edu	37	11	93911576	93911576	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr11:93911576C>G	ENST00000227638.3	+	3	748	c.363C>G	c.(361-363)taC>taG	p.Y121*	PANX1_ENST00000436171.2_Nonsense_Mutation_p.Y121*	NM_015368.3	NP_056183.2	Q96RD7	PANX1_HUMAN	pannexin 1	121					calcium ion transport (GO:0006816)|cation transport (GO:0006812)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|protein hexamerization (GO:0034214)|response to ATP (GO:0033198)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	bleb (GO:0032059)|endoplasmic reticulum (GO:0005783)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium channel activity (GO:0005262)|gap junction hemi-channel activity (GO:0055077)|leak channel activity (GO:0022840)|receptor binding (GO:0005102)			endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Probenecid(DB01032)	TCCTCCTGTACCTGCCCCCGC	0.463																																																0													167	127	141					11																	93911576		2201	4298	6499	SO:0001587	stop_gained	24145			AF093239	CCDS8296.1	11q14-q21	2011-12-02			ENSG00000110218	ENSG00000110218		"Ion channels / Pannexins"	8599	protein-coding gene	gene with protein product	"innexin"	608420				14597722	Standard	NM_015368		Approved	MRS1, UNQ2529, PX1	uc001per.3	Q96RD7	OTTHUMG00000167757	ENST00000227638.3:c.363C>G	chr11.hg19:g.93911576C>G	ENSP00000227638:p.Tyr121*		O75968|Q543A0|Q6UW26|Q96AM9|Q96L77|Q96RS5	Nonsense_Mutation	SNP	ENST00000227638.3	hg19	CCDS8296.1	.	.	.	.	.	.	.	.	.	.	C	38	6.963806	0.97967	.	.	ENSG00000110218	ENST00000227638;ENST00000436171	.	.	.	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-27.6852	13.9642	0.64199	0.0:0.9245:0.0:0.0755	.	.	.	.	X	121	.	ENSP00000227638:Y121X	Y	+	3	2	PANX1	93551224	1.000000	0.71417	1.000000	0.80357	0.682000	0.39822	0.922000	0.28734	2.402000	0.81655	0.563000	0.77884	TAC		0.463	PANX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396121.1	NM_015368		G	93911576	C	G	93911576	4	3	663	1	0	0	0	0	0	1	0	0	11422	518	18	4	373	4	PANX1	11	93911576	Nonsense_Mutation	SNP	C	TCGA-GL-A4EM-01A-11D-A25F-10	28076160	93911576	41094940	33	36147											
LPCAT3	10162	hgsc.bcm.edu	37	12	7125633	7125633	+	Silent	SNP	C	C	T			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr12:7125633C>T	ENST00000261407.4	-	1	181	c.96G>A	c.(94-96)gcG>gcA	p.A32A	C1S_ENST00000406697.1_Intron	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	32					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						CCAGGGACGTCGCCAACTTGT	0.662																																																0													49	48	49					12																	7125633		2202	4299	6501	SO:0001819	synonymous_variant	10162			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.96G>A	chr12.hg19:g.7125633C>T			B2RDH0|B7Z3N3|Q7KZS1|Q92980|Q9BW40	Silent	SNP	ENST00000261407.4	hg19	CCDS8572.1																																																																																				0.662	LPCAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401812.1	NM_005768		T	7125633	C	T	7125633	2	4	663	1	0	0	0	0	0	0	0	1	8914	871	31	1		1	LPCAT3	12	7125633	Silent	SNP	C	TCGA-GL-A4EM-01A-11D-A25F-10		7125633	126726262	34	36148											
SCN8A	6334	hgsc.bcm.edu	37	12	52188171	52188171	+	Missense_Mutation	SNP	T	T	A			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr12:52188171T>A	ENST00000354534.6	+	26	4719	c.4541T>A	c.(4540-4542)aTc>aAc	p.I1514N	SCN8A_ENST00000545061.1_Missense_Mutation_p.I1473N	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1514					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	ATCCAAGGAATCGTCTTTGAT	0.428																																																0													132	127	129					12																	52188171		1982	4186	6168	SO:0001583	missense	6334			AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10596	protein-coding gene	gene with protein product		600702	"sodium channel, voltage gated, type VIII, alpha polypeptide"	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.4541T>A	chr12.hg19:g.52188171T>A	ENSP00000346534:p.Ile1514Asn		B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	hg19	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	t	11.59	1.684148	0.29872	.	.	ENSG00000196876	ENST00000354534;ENST00000545061;ENST00000355133	D;D;D	0.96073	-3.9;-3.87;-3.75	4.96	4.96	0.65561	.	0.387189	0.31821	N	0.007009	D	0.92051	0.7481	L	0.60455	1.87	0.23050	N	0.998375	B	0.06786	0.001	B	0.01281	0.0	D	0.83764	0.0216	10	0.66056	D	0.02	.	3.8457	0.08934	0.0:0.1628:0.1988:0.6384	.	1514	Q9UQD0	SCN8A_HUMAN	N	1514;1473;1473	ENSP00000346534:I1514N;ENSP00000440360:I1473N;ENSP00000347255:I1473N	ENSP00000346534:I1514N	I	+	2	0	SCN8A	50474438	0.009000	0.17119	0.680000	0.29994	0.997000	0.91878	1.516000	0.35856	2.228000	0.72767	0.524000	0.50904	ATC		0.428	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		A	52188171	T	A	52188171	3	1	663	1	0	0	0	0	1	0	0	0	13930	1435	50	5	4639	5	SCN8A	12	52188171	Missense_Mutation	SNP	T	TCGA-GL-A4EM-01A-11D-A25F-10	45062538	52188171	81663724	35	36149											
KRT84	3890	hgsc.bcm.edu	37	12	52779218	52779218	+	Missense_Mutation	SNP	C	C	G	rs148258545		TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr12:52779218C>G	ENST00000257951.3	-	1	218	c.152G>C	c.(151-153)gGt>gCt	p.G51A	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	51	Head.				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)		ACTCCGACTACCAAAGCTGCC	0.582																																																0													75	80	78					12																	52779218		2203	4300	6503	SO:0001583	missense	3890			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.152G>C	chr12.hg19:g.52779218C>G	ENSP00000257951:p.Gly51Ala		B2RA43|Q6ISB0|Q701L6	Missense_Mutation	SNP	ENST00000257951.3	hg19	CCDS8825.1	.	.	.	.	.	.	.	.	.	.	C	13.89	2.370922	0.42003	.	.	ENSG00000161849	ENST00000257951	D	0.84944	-1.92	5.06	4.15	0.48705	.	0.143814	0.32563	N	0.005926	D	0.87269	0.6135	M	0.86420	2.815	0.34114	D	0.663369	B	0.15141	0.012	B	0.12156	0.007	D	0.89533	0.3787	10	0.66056	D	0.02	.	15.849	0.78912	0.0:0.864:0.136:0.0	.	51	Q9NSB2	KRT84_HUMAN	A	51	ENSP00000257951:G51A	ENSP00000257951:G51A	G	-	2	0	KRT84	51065485	0.946000	0.32159	0.968000	0.41197	0.853000	0.48598	2.037000	0.41174	1.466000	0.48025	0.543000	0.68304	GGT		0.582	KRT84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405187.1	NM_033045		G	52779218	C	G	52779218	3	3	663	1	0	0	0	0	1	0	0	0	8500	507	18	4	1686	4	KRT84	12	52779218	Missense_Mutation	SNP	C	TCGA-GL-A4EM-01A-11D-A25F-10	591047	52779218	81072677	36	36150											
C12orf29	91298	hgsc.bcm.edu	37	12	88442035	88442035	+	Missense_Mutation	SNP	T	T	A			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr12:88442035T>A	ENST00000356891.3	+	7	1017	c.814T>A	c.(814-816)Tgc>Agc	p.C272S		NM_001009894.2	NP_001009894.2	Q8N999	CL029_HUMAN	chromosome 12 open reading frame 29	272					hematopoietic progenitor cell differentiation (GO:0002244)					large_intestine(3)|lung(1)|ovary(1)	5						TCTTGGCTTATGCTGGCCAAT	0.363																																																0													126	108	114					12																	88442035		2203	4300	6503	SO:0001583	missense	91298			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.814T>A	chr12.hg19:g.88442035T>A	ENSP00000349358:p.Cys272Ser		Q569K5|Q6AWA8|Q6PEK5|Q8IYQ5|Q9NT75	Missense_Mutation	SNP	ENST00000356891.3	hg19	CCDS31866.1	.	.	.	.	.	.	.	.	.	.	.	3.780	-0.045871	0.07452	.	.	ENSG00000133641	ENST00000356891	T	0.50001	0.76	5.41	1.98	0.26296	.	0.784752	0.12584	N	0.456148	T	0.27278	0.0669	L	0.34521	1.04	0.26278	N	0.978315	B	0.02656	0.0	B	0.04013	0.001	T	0.32851	-0.9891	10	0.02654	T	1	0.2767	4.1297	0.10143	0.1564:0.353:0.0:0.4906	.	272	Q8N999	CL029_HUMAN	S	272	ENSP00000349358:C272S	ENSP00000349358:C272S	C	+	1	0	C12orf29	86966166	0.225000	0.23685	0.998000	0.56505	0.994000	0.84299	0.223000	0.17719	0.109000	0.17891	0.533000	0.62120	TGC		0.363	C12orf29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406335.1	NM_001009894		A	88442035	T	A	88442035	3	1	663	1	0	0	0	0	1	0	0	0	1682	1464	51	5	840	5	C12orf29	12	88442035	Missense_Mutation	SNP	T	TCGA-GL-A4EM-01A-11D-A25F-10	35662817	88442035	45409860	37	36151											
RPH3A	22895	hgsc.bcm.edu	37	12	113333603	113333603	+	Missense_Mutation	SNP	C	C	A			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr12:113333603C>A	ENST00000389385.4	+	21	2376	c.1879C>A	c.(1879-1881)Cac>Aac	p.H627N	RPH3A_ENST00000548866.1_Missense_Mutation_p.H578N|RPH3A_ENST00000447659.2_Missense_Mutation_p.H578N|RPH3A_ENST00000420983.2_Missense_Mutation_p.H627N|RPH3A_ENST00000543106.2_Missense_Mutation_p.H627N|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000551052.1_Missense_Mutation_p.H623N|RPH3A_ENST00000415485.3_Missense_Mutation_p.H627N	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	627	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		TGACATCAAACACAGTGACCT	0.473																																																0													97	78	84					12																	113333603		2203	4300	6503	SO:0001583	missense	22895			AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"Synaptotagmins"	17056	protein-coding gene	gene with protein product		612159	"rabphilin 3A homolog (mouse)"			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.1879C>A	chr12.hg19:g.113333603C>A	ENSP00000374036:p.His627Asn		B7Z3C3|Q96AE0	Missense_Mutation	SNP	ENST00000389385.4	hg19	CCDS44979.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.599097	0.87055	.	.	ENSG00000089169	ENST00000543106;ENST00000389385;ENST00000447659;ENST00000551052;ENST00000415485;ENST00000548866;ENST00000420983;ENST00000549913	T;T;T;T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34	5.42	5.42	0.78866	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);Synaptotagmin (1);	0.000000	0.64402	D	0.000007	T	0.70684	0.3252	N	0.19112	0.55	0.80722	D	1	D;D;D	0.89917	1.0;0.995;0.997	D;D;D	0.77004	0.989;0.972;0.977	T	0.68637	-0.5356	10	0.27785	T	0.31	.	18.006	0.89209	0.0:1.0:0.0:0.0	.	578;627;623	F8VP47;Q9Y2J0;Q9Y2J0-2	.;RP3A_HUMAN;.	N	627;627;578;623;627;578;627;279	ENSP00000440384:H627N;ENSP00000374036:H627N;ENSP00000413254:H578N;ENSP00000448297:H623N;ENSP00000405357:H627N;ENSP00000450347:H578N;ENSP00000408889:H627N	ENSP00000374036:H627N	H	+	1	0	RPH3A	111817986	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	5.703000	0.68340	2.550000	0.86006	0.655000	0.94253	CAC		0.473	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405561.1	NM_014954		A	113333603	C	A	113333603	3	1	663	1	0	0	0	0	1	0	0	0	13557	478	17	4	1953	4	RPH3A	12	113333603	Missense_Mutation	SNP	C	TCGA-GL-A4EM-01A-11D-A25F-10	24891568	113333603	20518292	38	36152											
FREM2	341640	hgsc.bcm.edu	37	13	39262352	39262352	+	Missense_Mutation	SNP	G	G	C			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr13:39262352G>C	ENST00000280481.7	+	1	1087	c.871G>C	c.(871-873)Gct>Cct	p.A291P		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	291					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)		TTCACGAGGGGCTCCTGTGGG	0.617																																																0													57	56	56					13																	39262352		2203	4300	6503	SO:0001583	missense	341640			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.871G>C	chr13.hg19:g.39262352G>C	ENSP00000280481:p.Ala291Pro		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	hg19	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.909632	0.33721	.	.	ENSG00000150893	ENST00000280481	T	0.19532	2.14	5.93	0.756	0.18421	.	0.690381	0.13204	N	0.405691	T	0.16685	0.0401	L	0.39898	1.24	0.22675	N	0.998866	B	0.10296	0.003	B	0.10450	0.005	T	0.21655	-1.0239	10	0.62326	D	0.03	.	8.0541	0.30596	0.138:0.0:0.6112:0.2508	.	291	Q5SZK8	FREM2_HUMAN	P	291	ENSP00000280481:A291P	ENSP00000280481:A291P	A	+	1	0	FREM2	38160352	0.752000	0.28338	0.027000	0.17364	0.945000	0.59286	1.457000	0.35212	-0.207000	0.10187	0.555000	0.69702	GCT		0.617	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		C	39262352	G	C	39262352	3	2	663	1	0	0	0	0	1	0	0	0	6047	1203	42	4	873	4	FREM2	13	39262352	Missense_Mutation	SNP	G	TCGA-GL-A4EM-01A-11D-A25F-10		39262352	75907526	39	36153											
RAB15	376267	hgsc.bcm.edu	37	14	65418357	65418362	+	In_Frame_Del	DEL	GTATCT	GTATCT	-			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10	GTATCT	GTATCT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr14:65418357_65418362delGTATCT	ENST00000533601.2	-	3	542_547	c.205_210delAGATAC	c.(205-210)agatacdel	p.RY69del	CHURC1-FNTB_ENST00000549987.1_Intron|RAB15_ENST00000267512.5_In_Frame_Del_p.RY69del|FNTB_ENST00000542227.1_Intron|FNTB_ENST00000447296.2_Intron|RAB15_ENST00000426039.3_In_Frame_Del_p.RY23del|RAB15_ENST00000436278.2_In_Frame_Del_p.RY23del			P59190	RAB15_HUMAN	RAB15, member RAS oncogene family	69					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)		TGATGGTCTGGTATCTCTCCTGCCCT	0.592																																																0																																										SO:0001651	inframe_deletion	376267			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.205_210delAGATAC	chr14.hg19:g.65418357_65418362delGTATCT	ENSP00000434103:p.Arg69_Tyr70del		G5EMR7|Q86TX7|Q8IW89	In_Frame_Del	DEL	ENST00000533601.2	hg19																																																																																					0.592	RAB15-003	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000390443.2	NM_198686		-	65418362	GTATCT	-	65418357	7	5	663	1	0	1	0	1	0	0	0	0	12907	1256	44	0	436	0	RAB15	14	65418357	In_Frame_Del	DEL	GTATCT	TCGA-GL-A4EM-01A-11D-A25F-10		65418357	41931183	40	36154											
PLEKHH1	57475	hgsc.bcm.edu	37	14	68038953	68038953	+	Missense_Mutation	SNP	C	C	A			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr14:68038953C>A	ENST00000329153.5	+	11	1819	c.1687C>A	c.(1687-1689)Cgc>Agc	p.R563S		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	563						cytoskeleton (GO:0005856)				endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		CAAACTGCAGCGCACCTCATC	0.662																																																0													29	32	31					14																	68038953		2079	4209	6288	SO:0001583	missense	57475			AB033026	CCDS45128.1	14q24.1	2013-01-10				ENSG00000054690		"Pleckstrin homology (PH) domain containing"	17733	protein-coding gene	gene with protein product						10574462	Standard	NM_020715		Approved	KIAA1200	uc001xjl.1	Q9ULM0		ENST00000329153.5:c.1687C>A	chr14.hg19:g.68038953C>A	ENSP00000330278:p.Arg563Ser		A6H8X6|Q6PJL4|Q6ZWC7	Missense_Mutation	SNP	ENST00000329153.5	hg19	CCDS45128.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.966478	0.74131	.	.	ENSG00000054690	ENST00000329153	T	0.73789	-0.78	4.61	3.68	0.42216	.	0.000000	0.85682	D	0.000000	T	0.79650	0.4482	M	0.64997	1.995	0.80722	D	1	P;D	0.61080	0.911;0.989	P;P	0.60012	0.486;0.867	T	0.76963	-0.2764	10	0.30854	T	0.27	.	11.6328	0.51185	0.2994:0.7006:0.0:0.0	.	78;563	Q9ULM0-2;Q9ULM0	.;PKHH1_HUMAN	S	563	ENSP00000330278:R563S	ENSP00000330278:R563S	R	+	1	0	PLEKHH1	67108706	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.483000	0.45233	2.387000	0.81309	0.555000	0.69702	CGC		0.662	PLEKHH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412730.3	XM_031054		A	68038953	C	A	68038953	3	1	663	1	0	0	0	0	1	0	0	0	12078	768	27	4	1725	4	PLEKHH1	14	68038953	Missense_Mutation	SNP	C	TCGA-GL-A4EM-01A-11D-A25F-10	2620596	68038953	39310587	41	36155											
EML5	161436	hgsc.bcm.edu	37	14	89105224	89105224	+	Missense_Mutation	SNP	T	T	G			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr14:89105224T>G	ENST00000380664.5	-	30	4240	c.4241A>C	c.(4240-4242)aAt>aCt	p.N1414T	EML5_ENST00000352093.5_Missense_Mutation_p.N1376T|EML5_ENST00000554922.1_Missense_Mutation_p.N1422T			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1414						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						AATATCATCATTATGTTCCTG	0.333																																																0													81	71	74					14																	89105224		1809	4079	5888	SO:0001583	missense	161436			AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"WD repeat domain containing"	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.4241A>C	chr14.hg19:g.89105224T>G	ENSP00000370039:p.Asn1414Thr		B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Missense_Mutation	SNP	ENST00000380664.5	hg19	CCDS45148.1	.	.	.	.	.	.	.	.	.	.	T	2.398	-0.338242	0.05278	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	T;T;T	0.04234	3.67;3.67;3.67	5.38	3.04	0.35103	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.114168	0.64402	D	0.000016	T	0.01029	0.0034	N	0.00332	-1.63	0.31575	N	0.655785	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.38112	-0.9676	10	0.02654	T	1	-24.3174	5.3744	0.16156	0.0:0.1523:0.1491:0.6985	.	1422;1414	Q05BV3-5;Q05BV3	.;EMAL5_HUMAN	T	1422;1376;1414	ENSP00000451998:N1422T;ENSP00000298315:N1376T;ENSP00000370039:N1414T	ENSP00000298315:N1376T	N	-	2	0	EML5	88174977	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.975000	0.40569	0.884000	0.36064	0.482000	0.46254	AAT		0.333	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1			G	89105224	T	G	89105224	3	3	663	1	0	0	0	0	1	0	0	0	5102	1493	52	5	1720	5	EML5	14	89105224	Missense_Mutation	SNP	T	TCGA-GL-A4EM-01A-11D-A25F-10	21066271	89105224	18244316	42	36156											
WDR20	91833	hgsc.bcm.edu	37	14	102689211	102689211	+	Silent	SNP	T	T	A			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr14:102689211T>A	ENST00000335263.5	+	4	1817	c.1737T>A	c.(1735-1737)acT>acA	p.T579T	WDR20_ENST00000556807.1_Silent_p.T518T	NM_181291.2	NP_851808.1	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20	0										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						CAGGTGGAACTGTAGTGTAGC	0.602																																																0													148	116	126					14																	102689211		2203	4300	6503	SO:0001819	synonymous_variant	91833			BC028387	CCDS9968.1, CCDS9969.1, CCDS9970.1, CCDS55942.1, CCDS55943.1, CCDS55944.1, CCDS55945.1	14q32.31	2013-01-09				ENSG00000140153		"WD repeat domain containing"	19667	protein-coding gene	gene with protein product							Standard	NM_181291		Approved	DMR, MGC33177, FLJ33659	uc010txu.2	Q8TBZ3		ENST00000335263.5:c.1737T>A	chr14.hg19:g.102689211T>A			B4DN18|E7EUY8|F8W9S4|G3V2F8|G3V5R0|H0YJJ1|Q86TU2|Q8NCN7|Q8WXX2|Q9UF86	Silent	SNP	ENST00000335263.5	hg19	CCDS9968.1																																																																																				0.602	WDR20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414960.1	NM_181291		A	102689211	T	A	102689211	2	1	663	1	0	0	0	0	0	0	0	1	17285	1567	55	5		5	WDR20	14	102689211	Silent	SNP	T	TCGA-GL-A4EM-01A-11D-A25F-10	13583987	102689211	4660329	43	36157											
BAHD1	22893	hgsc.bcm.edu	37	15	40751142	40751142	+	Missense_Mutation	SNP	C	C	A			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr15:40751142C>A	ENST00000416165.1	+	2	550	c.479C>A	c.(478-480)gCt>gAt	p.A160D	BAHD1_ENST00000561234.1_Missense_Mutation_p.A160D|BAHD1_ENST00000560846.1_Missense_Mutation_p.A160D	NM_014952.3	NP_055767.3	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	160					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)		CGTGATCGTGCTACTGGGGGC	0.672																																																0													22	29	26					15																	40751142		2197	4296	6493	SO:0001583	missense	22893			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.479C>A	chr15.hg19:g.40751142C>A	ENSP00000396976:p.Ala160Asp		Q8NDF7|Q9Y2F4	Missense_Mutation	SNP	ENST00000416165.1	hg19	CCDS10058.1	.	.	.	.	.	.	.	.	.	.	C	9.014	0.983230	0.18889	.	.	ENSG00000140320	ENST00000416165	T	0.18338	2.22	5.11	0.82	0.18793	.	0.394096	0.23881	N	0.043645	T	0.09291	0.0229	N	0.08118	0	0.09310	N	1	P;B;P	0.36909	0.573;0.437;0.573	B;B;B	0.41894	0.369;0.203;0.369	T	0.26121	-1.0112	10	0.36615	T	0.2	-3.895	7.9432	0.29971	0.0:0.6539:0.1214:0.2247	.	160;160;160	Q8TBE0-3;Q8TBE0;Q8TBE0-2	.;BAHD1_HUMAN;.	D	160	ENSP00000396976:A160D	ENSP00000396976:A160D	A	+	2	0	BAHD1	38538434	0.840000	0.29493	0.037000	0.18230	0.004000	0.04260	1.548000	0.36201	0.311000	0.23014	-0.182000	0.12963	GCT		0.672	BAHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252248.1	NM_014952		A	40751142	C	A	40751142	3	1	663	1	0	0	0	0	1	0	0	0	1297	797	28	4	481	4	BAHD1	15	40751142	Missense_Mutation	SNP	C	TCGA-GL-A4EM-01A-11D-A25F-10		40751142	61780250	44	36158											
UBR1	197131	hgsc.bcm.edu	37	15	43378432	43378432	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr15:43378432C>T	ENST00000290650.4	-	2	166	c.88G>A	c.(88-90)Gat>Aat	p.D30N	UBR1_ENST00000382177.2_Missense_Mutation_p.D30N	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	30					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		ACTTGCTGATCCCACCACTAA	0.358																																																0													47	50	49					15																	43378432		2203	4299	6502	SO:0001583	missense	197131				CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"Ubiquitin protein ligase E3 component n-recognins"	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.88G>A	chr15.hg19:g.43378432C>T	ENSP00000290650:p.Asp30Asn		O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Missense_Mutation	SNP	ENST00000290650.4	hg19	CCDS10091.1	.	.	.	.	.	.	.	.	.	.	C	10.76	1.442186	0.25987	.	.	ENSG00000159459	ENST00000290650;ENST00000382177;ENST00000546274	T;T	0.70045	0.39;-0.45	5.41	3.39	0.38822	.	0.425163	0.24730	N	0.036070	T	0.42539	0.1207	N	0.08118	0	0.32678	N	0.515941	B;P	0.35433	0.147;0.501	B;B	0.25140	0.045;0.058	T	0.48958	-0.8988	10	0.17832	T	0.49	-13.2485	17.5354	0.87829	0.0:0.7515:0.2485:0.0	.	30;30	B4DYL2;Q8IWV7	.;UBR1_HUMAN	N	30	ENSP00000290650:D30N;ENSP00000371612:D30N	ENSP00000290650:D30N	D	-	1	0	UBR1	41165724	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	1.711000	0.37930	1.277000	0.44412	0.561000	0.74099	GAT		0.358	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1	NM_174916		T	43378432	C	T	43378432	3	4	663	1	0	0	0	0	1	0	0	0	16906	855	30	2	5345	2	UBR1	15	43378432	Missense_Mutation	SNP	C	TCGA-GL-A4EM-01A-11D-A25F-10	2627290	43378432	59152960	45	36159											
NEDD4	4734	hgsc.bcm.edu	37	15	56207639	56207639	+	Missense_Mutation	SNP	G	G	T	rs543656596		TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr15:56207639G>T	ENST00000508342.1	-	1	1690	c.1391C>A	c.(1390-1392)cCa>cAa	p.P464Q	NEDD4_ENST00000435532.3_Intron|NEDD4_ENST00000338963.2_Missense_Mutation_p.P464Q|NEDD4_ENST00000506154.1_Missense_Mutation_p.P464Q	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	464					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)		GGAAATATTTGGATAAGCTCC	0.363																																																0													135	137	136					15																	56207639		2193	4292	6485	SO:0001583	missense	4734			D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"receptor-potentiating factor 1"	602278	"neural precursor cell expressed, developmentally down-regulated 4"			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.1391C>A	chr15.hg19:g.56207639G>T	ENSP00000424827:p.Pro464Gln		A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Missense_Mutation	SNP	ENST00000508342.1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.98|16.98	3.271215|3.271215	0.59649|0.59649	.|.	.|.	ENSG00000069869|ENSG00000069869	ENST00000508342;ENST00000338963;ENST00000506154|ENST00000508871	T;T;T|.	0.18338|.	2.25;2.22;2.25|.	5.46|5.46	4.48|4.48	0.54585|0.54585	.|.	7.228800|.	0.02135|.	U|.	0.056683|.	T|T	0.41143|0.41143	0.1146|0.1146	L|L	0.39633|0.39633	1.23|1.23	0.25741|0.25741	N|N	0.98517|0.98517	B;B;B|.	0.19331|.	0.035;0.02;0.035|.	B;B;B|.	0.20767|.	0.031;0.014;0.031|.	T|T	0.22695|0.22695	-1.0209|-1.0209	10|5	0.34782|.	T|.	0.22|.	.|.	11.2909|11.2909	0.49250|0.49250	0.0:0.0:0.6725:0.3275|0.0:0.0:0.6725:0.3275	.|.	464;464;464|.	P46934-2;P46934;P46934-3|.	.;NEDD4_HUMAN;.|.	Q|K	464|72	ENSP00000424827:P464Q;ENSP00000345530:P464Q;ENSP00000422705:P464Q|.	ENSP00000345530:P464Q|.	P|Q	-|-	2|1	0|0	NEDD4|NEDD4	53994931|53994931	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	3.131000|3.131000	0.50515|0.50515	2.580000|2.580000	0.87095|0.87095	0.460000|0.460000	0.39030|0.39030	CCA|CAA		0.363	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	NM_198400		T	56207639	G	T	56207639	3	4	663	1	0	0	0	0	1	0	0	0	10312	1348	47	4	2668	4	NEDD4	15	56207639	Missense_Mutation	SNP	G	TCGA-GL-A4EM-01A-11D-A25F-10	12829207	56207639	46323753	46	36160											
POLG	5428	hgsc.bcm.edu	37	15	89872222	89872222	+	Frame_Shift_Del	DEL	G	G	-	rs551973680		TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr15:89872222delG	ENST00000268124.5	-	4	1308	c.975delC	c.(973-975)cccfs	p.P325fs	POLG_ENST00000442287.2_Frame_Shift_Del_p.P325fs	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	325					aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			CTTGCTTTGTGGGGGGCTGGA	0.602								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)											0													91	80	83					15																	89872222		2200	4299	6499	SO:0001589	frameshift_variant	5428			X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"DNA polymerases"	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.975delC	chr15.hg19:g.89872222delG	ENSP00000268124:p.Pro325fs		Q8NFM2|Q92515	Frame_Shift_Del	DEL	ENST00000268124.5	hg19	CCDS10350.1																																																																																				0.602	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000312854.2	NM_002693		-	89872222	G	-	89872222	7	5	663	1	0	1	0	1	0	0	0	0	12202	1335	47	0	2824	0	POLG	15	89872222	Frame_Shift_Del	DEL	G	TCGA-GL-A4EM-01A-11D-A25F-10	33664583	89872222	12659170	47	36161											
MMP25	64386	hgsc.bcm.edu	37	16	3100091	3100091	+	Missense_Mutation	SNP	G	G	A	rs146181243		TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr16:3100091G>A	ENST00000336577.4	+	3	551	c.314G>A	c.(313-315)cGt>cAt	p.R105H	MMP25_ENST00000570755.1_3'UTR|RP11-473M20.7_ENST00000576250.1_RNA	NM_022468.4	NP_071913.1	Q9H239	MMP28_HUMAN	matrix metallopeptidase 25	120					negative regulation of macrophage chemotaxis (GO:0010760)	cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14					Marimastat(DB00786)	GTCAGGCGGCGTCGCCGGTAC	0.701																																					NSCLC(147;665 1067 3888 6863 19894 30469 40247 45633 51336)											0								G	HIS/ARG	1,4393	2.1+/-5.4	0,1,2196	54	59	57		314	5.1	0.1	16	dbSNP_134	57	0,8596		0,0,4298	no	missense	MMP25	NM_022468.4	29	0,1,6494	AA,AG,GG		0.0,0.0228,0.0077	probably-damaging	105/563	3100091	1,12989	2197	4298	6495	SO:0001583	missense	64386			AF145442	CCDS10492.1	16p13.3	2008-02-05	2005-08-08			ENSG00000008516			14246	protein-coding gene	gene with protein product		608482	"matrix metalloproteinase 25", "matrix metallopeptidase-like 1"	MMPL1, MMP20		10628838, 10706098	Standard	NM_022468		Approved	MT6-MMP	uc002cth.3	Q9NPA2		ENST00000336577.4:c.314G>A	chr16.hg19:g.3100091G>A	ENSP00000337816:p.Arg105His		Q96F04|Q96TE2	Missense_Mutation	SNP	ENST00000336577.4	hg19	CCDS10492.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.085309	0.36758	2.28E-4	0.0	ENSG00000008516	ENST00000336577;ENST00000325800	T	0.19105	2.17	5.06	5.06	0.68205	Metallopeptidase, catalytic domain (1);	0.000000	0.34802	U	0.003670	T	0.19725	0.0474	M	0.62088	1.915	0.09310	N	0.999994	P;D	0.57571	0.796;0.98	B;B	0.37833	0.124;0.259	T	0.39820	-0.9595	10	0.72032	D	0.01	.	9.5362	0.39224	0.0975:0.0:0.9025:0.0	.	29;105	O43923;Q9NPA2	.;MMP25_HUMAN	H	105;32	ENSP00000337816:R105H	ENSP00000324953:R32H	R	+	2	0	MMP25	3040092	0.997000	0.39634	0.093000	0.20910	0.166000	0.22503	5.754000	0.68743	2.356000	0.79943	0.655000	0.94253	CGT		0.701	MMP25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437116.1	NM_022468		A	3100091	G	A	3100091	3	1	663	1	0	0	0	0	1	0	0	0	9664	1145	40	1	324	1	MMP25	16	3100091	Missense_Mutation	SNP	G	TCGA-GL-A4EM-01A-11D-A25F-10		3100091	87254662	48	36162											
ANKS4B	257629	hgsc.bcm.edu	37	16	21245180	21245180	+	Frame_Shift_Del	DEL	A	A	-			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr16:21245180delA	ENST00000311620.5	+	1	195	c.122delA	c.(121-123)tacfs	p.Y41fs		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	41					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)		TTGGCAGCCTACCATGGGAAC	0.463																																																0													128	125	126					16																	21245180		1902	4118	6020	SO:0001589	frameshift_variant	257629			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.122delA	chr16.hg19:g.21245180delA	ENSP00000308772:p.Tyr41fs			Frame_Shift_Del	DEL	ENST00000311620.5	hg19	CCDS42130.1																																																																																				0.463	ANKS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436535.1	NM_145865		-	21245180	A	-	21245180	7	5	663	1	0	1	0	1	0	0	0	0	691	391	14	0	124	0	ANKS4B	16	21245180	Frame_Shift_Del	DEL	A	TCGA-GL-A4EM-01A-11D-A25F-10	18145089	21245180	69109573	49	36163											
COG8	84342	hgsc.bcm.edu	37	16	69368509	69368509	+	Missense_Mutation	SNP	A	A	T			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr16:69368509A>T	ENST00000306875.4	-	3	1442	c.1328T>A	c.(1327-1329)cTg>cAg	p.L443Q	RP11-343C2.12_ENST00000562949.1_Missense_Mutation_p.L89Q|COG8_ENST00000562081.1_Missense_Mutation_p.L443Q	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	443					protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						GAAGGCAACCAGAATATTGTT	0.597																																																0													68	65	66					16																	69368509		2198	4300	6498	SO:0001583	missense	84342			AK025968	CCDS10876.1	16q22.1	2011-05-31			ENSG00000213380	ENSG00000213380		"Components of oligomeric golgi complex"	18623	protein-coding gene	gene with protein product		606979				11980916	Standard	NM_032382		Approved	FLJ22315, DOR1	uc002ewy.2	Q96MW5	OTTHUMG00000154277	ENST00000306875.4:c.1328T>A	chr16.hg19:g.69368509A>T	ENSP00000305459:p.Leu443Gln		Q0VAK2|Q8WVV6|Q9H6F8	Missense_Mutation	SNP	ENST00000306875.4	hg19	CCDS10876.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.556094	0.86231	.	.	ENSG00000213380	ENST00000306875	T	0.61859	0.07	5.86	5.86	0.93980	.	0.085303	0.56097	D	0.000029	T	0.73860	0.3641	M	0.74881	2.28	0.80722	D	1	D;D	0.61080	0.989;0.989	P;P	0.61328	0.887;0.887	T	0.76305	-0.3008	10	0.56958	D	0.05	-1.8093	16.2605	0.82541	1.0:0.0:0.0:0.0	.	470;443	B4DYU2;Q96MW5	.;COG8_HUMAN	Q	443	ENSP00000305459:L443Q	ENSP00000305459:L443Q	L	-	2	0	COG8	67926010	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	8.903000	0.92573	2.237000	0.73441	0.460000	0.39030	CTG		0.597	COG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268948.2	NM_032382		T	69368509	A	T	69368509	3	4	663	1	0	0	0	0	1	0	0	0	3666	188	7	5	522	5	COG8	16	69368509	Missense_Mutation	SNP	A	TCGA-GL-A4EM-01A-11D-A25F-10	48123329	69368509	20986244	50	36164											
CHRNB1	1140	hgsc.bcm.edu	37	17	7350850	7350850	+	Missense_Mutation	SNP	A	A	T			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr17:7350850A>T	ENST00000306071.2	+	6	558	c.491A>T	c.(490-492)aAt>aTt	p.N164I	RP11-104H15.10_ENST00000575331.1_RNA|CHRNB1_ENST00000576360.1_Missense_Mutation_p.N92I|CHRNB1_ENST00000536404.2_Missense_Mutation_p.N92I	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)	164					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)	GACTGGCAGAATTGCACTATG	0.567																																																0													126	112	117					17																	7350850		2203	4300	6503	SO:0001583	missense	1140			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.491A>T	chr17.hg19:g.7350850A>T	ENSP00000304290:p.Asn164Ile		B7Z5H1|Q8IZ46|Q96FB8	Missense_Mutation	SNP	ENST00000306071.2	hg19	CCDS11106.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.331856	0.81801	.	.	ENSG00000170175	ENST00000306071;ENST00000536404	T;T	0.80480	-1.38;-1.38	4.96	4.96	0.65561	Neurotransmitter-gated ion-channel ligand-binding (3);Neurotransmitter-gated ion-channel, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.86335	0.5908	M	0.69248	2.105	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.86860	0.2029	10	0.87932	D	0	.	7.3997	0.26956	0.9015:0.0:0.0985:0.0	.	164	P11230	ACHB_HUMAN	I	164;92	ENSP00000304290:N164I;ENSP00000439209:N92I	ENSP00000304290:N164I	N	+	2	0	CHRNB1	7291574	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.939000	0.92951	1.863000	0.54032	0.459000	0.35465	AAT		0.567	CHRNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226942.3			T	7350850	A	T	7350850	3	4	663	1	0	0	0	0	1	0	0	0	3392	101	4	5	513	5	CHRNB1	17	7350850	Missense_Mutation	SNP	A	TCGA-GL-A4EM-01A-11D-A25F-10		7350850	73844360	51	36165											
AMAC1L3	643664	hgsc.bcm.edu	37	17	7386013	7386013	+	Missense_Mutation	SNP	G	G	C			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr17:7386013G>C	ENST00000412468.2	+	2	825	c.710G>C	c.(709-711)gGc>gCc	p.G237A	POLR2A_ENST00000572844.1_5'Flank|ZBTB4_ENST00000311403.4_Intron|POLR2A_ENST00000322644.6_5'Flank	NM_001102614.1	NP_001096084.1	P0C7Q6	S35G6_HUMAN	solute carrier family 35, member G6	237						integral component of membrane (GO:0016021)											TCTGTGCCAGGCCTCTTTGTG	0.612																																																0													52	52	52					17																	7386013		2203	4297	6500	SO:0001583	missense	643664				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.710G>C	chr17.hg19:g.7386013G>C	ENSP00000396523:p.Gly237Ala			Missense_Mutation	SNP	ENST00000412468.2	hg19	CCDS45603.1	.	.	.	.	.	.	.	.	.	.	G	3.103	-0.184272	0.06340	.	.	ENSG00000181222	ENST00000412468	T	0.49720	0.77	4.06	3.07	0.35406	.	.	.	.	.	T	0.21631	0.0521	N	0.08118	0	0.25938	N	0.982908	B	0.09022	0.002	B	0.14578	0.011	T	0.27468	-1.0073	9	0.02654	T	1	-1.8186	7.3041	0.26436	0.0:0.1871:0.6199:0.193	.	237	P0C7Q6	S35G6_HUMAN	A	237	ENSP00000396523:G237A	ENSP00000396523:G237A	G	+	2	0	SLC35G6	7326737	0.975000	0.34042	0.271000	0.24616	0.720000	0.41350	2.298000	0.43602	0.827000	0.34685	0.467000	0.42956	GGC		0.612	SLC35G6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001102614		C	7386013	G	C	7386013	3	2	663	1	0	0	0	0	1	0	0	0	561	1203	42	4	716	4	AMAC1L3	17	7386013	Missense_Mutation	SNP	G	TCGA-GL-A4EM-01A-11D-A25F-10	35163	7386013	73809197	52	36166											
UTP6	55813	hgsc.bcm.edu	37	17	30219812	30219812	+	Splice_Site	SNP	T	T	C			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr17:30219812T>C	ENST00000261708.4	-	5	451	c.314A>G	c.(313-315)gAc>gGc	p.D105G	UTP6_ENST00000490218.2_5'UTR	NM_018428.2	NP_060898.2	Q9NYH9	UTP6_HUMAN	UTP6, small subunit (SSU) processome component, homolog (yeast)	105					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)				TTGAACATCGTCCTGCAAGAA	0.378																																																0													116	93	101					17																	30219812		2203	4300	6503	SO:0001630	splice_region_variant	55813			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.313-1A>G	chr17.hg19:g.30219812T>C			Q8IX96|Q96BL2|Q9NQ91	Missense_Mutation	SNP	ENST00000261708.4	hg19	CCDS11269.1	.	.	.	.	.	.	.	.	.	.	T	13.02	2.111575	0.37242	.	.	ENSG00000108651	ENST00000261708	T	0.36699	1.24	5.44	5.44	0.79542	.	0.233979	0.51477	D	0.000100	T	0.24084	0.0583	N	0.21617	0.685	0.54753	D	0.999983	B;B	0.29766	0.129;0.256	B;B	0.24155	0.021;0.051	T	0.06698	-1.0812	10	0.15952	T	0.53	-22.7625	15.1464	0.72657	0.0:0.0:0.0:1.0	.	105;105	B4DSL9;Q9NYH9	.;UTP6_HUMAN	G	105	ENSP00000261708:D105G	ENSP00000261708:D105G	D	-	2	0	UTP6	27243925	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	3.602000	0.54066	2.057000	0.61298	0.454000	0.30748	GAC		0.378	UTP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256265.2	NM_018428	Missense_Mutation	C	30219812	T	C	30219812	5	2	663	1	0	0	0	0	0	0	1	0	17107	1681	58	3	1539	3	UTP6	17	30219812	Splice_Site	SNP	T	TCGA-GL-A4EM-01A-11D-A25F-10	22833799	30219812	50975398	53	36167											
CLTC	1213	hgsc.bcm.edu	37	17	57760151	57760152	+	Frame_Shift_Del	DEL	AG	AG	-	rs111452880		TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10	AG	AG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr17:57760151_57760152delAG	ENST00000269122.3	+	23	4036_4037	c.3762_3763delAG	c.(3760-3765)aaagagfs	p.E1255fs	CLTC_ENST00000393043.1_Frame_Shift_Del_p.E1255fs|CLTC_ENST00000579456.1_Frame_Shift_Del_p.E192fs	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	1255	Heavy chain arm.|Involved in binding clathrin light chain. {ECO:0000250}.|Proximal segment.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GAACATGGAAAGAGGTAATCTA	0.386			T	"ALK, TFE3"	"ALCL, renal "																																		Dom	yes		17	17q11-qter	1213	"clathrin, heavy polypeptide (Hc)"		L	0																																										SO:0001589	frameshift_variant	1213			X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"clathrin, heavy polypeptide (Hc)", "clathrin, heavy chain", "clathrin, heavy polypeptide-like 2"	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.3762_3763delAG	chr17.hg19:g.57760153_57760154delAG	ENSP00000269122:p.Glu1255fs		D3DU00|Q6N0A0|Q86TF2	Frame_Shift_Del	DEL	ENST00000269122.3	hg19	CCDS32696.1																																																																																				0.386	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859		-	57760152	AG	-	57760151	7	5	663	1	0	1	0	1	0	0	0	0	3568	69	3	0	3852	0	CLTC	17	57760151	Frame_Shift_Del	DEL	AG	TCGA-GL-A4EM-01A-11D-A25F-10	27540339	57760151	23435059	54	36168											
SLC25A19	60386	hgsc.bcm.edu	37	17	73273550	73273550	+	Missense_Mutation	SNP	G	G	C			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr17:73273550G>C	ENST00000402418.3	-	5	1567	c.658C>G	c.(658-660)Ctg>Gtg	p.L220V	SLC25A19_ENST00000320362.3_Missense_Mutation_p.L220V|SLC25A19_ENST00000580994.1_Missense_Mutation_p.L220V|SLC25A19_ENST00000416858.2_Missense_Mutation_p.L220V|SLC25A19_ENST00000375261.4_Missense_Mutation_p.L163V|SLC25A19_ENST00000442286.2_Missense_Mutation_p.L220V			Q9HC21	TPC_HUMAN	solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19	220					deoxynucleotide transport (GO:0030302)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	deoxynucleotide transmembrane transporter activity (GO:0030233)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08)		all cancers(21;6.82e-07)|Epithelial(20;6.86e-06)			CCACAAAGCAGGTTTTGGAGG	0.512																																																0													83	75	78					17																	73273550		2203	4300	6503	SO:0001583	missense	60386				CCDS11720.1	17q25.1	2013-05-22	2007-03-08		ENSG00000125454	ENSG00000125454		"Solute carriers"	14409	protein-coding gene	gene with protein product		606521	"solute carrier family 25 (mitochondrial deoxynucleotide carrier), member 19", "microcephaly, Amish"	MCPHA		11474176, 11226231, 19798730	Standard	NM_021734		Approved	DNC, MUP1, TPC	uc002jnw.4	Q9HC21		ENST00000402418.3:c.658C>G	chr17.hg19:g.73273550G>C	ENSP00000385312:p.Leu220Val		E9PF74|Q6V9R7	Missense_Mutation	SNP	ENST00000402418.3	hg19	CCDS11720.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.031943	0.54790	.	.	ENSG00000125454	ENST00000416858;ENST00000442286;ENST00000320362;ENST00000402418;ENST00000375261	D;D;D;D;D	0.81499	-1.5;-1.5;-1.5;-1.5;-1.5	5.35	2.3	0.28687	Mitochondrial carrier domain (2);	0.067029	0.64402	D	0.000011	D	0.82435	0.5036	L	0.45581	1.43	0.45930	D	0.998765	D;P	0.61697	0.99;0.935	P;P	0.62014	0.897;0.513	T	0.81187	-0.1047	10	0.62326	D	0.03	-13.3282	9.0336	0.36273	0.3003:0.0:0.6997:0.0	.	163;220	E9PF74;Q9HC21	.;TPC_HUMAN	V	220;220;220;220;163	ENSP00000397818:L220V;ENSP00000402202:L220V;ENSP00000319574:L220V;ENSP00000385312:L220V;ENSP00000364410:L163V	ENSP00000319574:L220V	L	-	1	2	SLC25A19	70785145	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.657000	0.61490	0.648000	0.30732	-0.157000	0.13467	CTG		0.512	SLC25A19-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447282.1	NM_021734		C	73273550	G	C	73273550	3	2	663	1	0	0	0	0	1	0	0	0	14487	991	35	4	312	4	SLC25A19	17	73273550	Missense_Mutation	SNP	G	TCGA-GL-A4EM-01A-11D-A25F-10	15513399	73273550	7921660	55	36169											
RNF213	57674	hgsc.bcm.edu	37	17	78321624	78321624	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr17:78321624delC	ENST00000582970.1	+	29	9632	c.9489delC	c.(9487-9489)atcfs	p.I3163fs	RNF213_ENST00000336301.6_Frame_Shift_Del_p.I1236fs|RNF213_ENST00000508628.2_Frame_Shift_Del_p.I3212fs	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3163					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ACTTTCCCATCCCCCTCATTA	0.542																																																0													67	62	63					17																	78321624		2203	4300	6503	SO:0001589	frameshift_variant	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.9489delC	chr17.hg19:g.78321624delC	ENSP00000464087:p.Ile3163fs		C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Frame_Shift_Del	DEL	ENST00000582970.1	hg19	CCDS58606.1																																																																																				0.542	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		-	78321624	C	-	78321624	7	5	663	1	0	1	0	1	0	0	0	0	13483	845	30	0	9918	0	RNF213	17	78321624	Frame_Shift_Del	DEL	C	TCGA-GL-A4EM-01A-11D-A25F-10	5048074	78321624	2873586	56	36170											
CC2D1A	54862	hgsc.bcm.edu	37	19	14028999	14028999	+	Missense_Mutation	SNP	G	G	T	rs368763604		TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr19:14028999G>T	ENST00000318003.7	+	7	1106	c.865G>T	c.(865-867)Gtg>Ttg	p.V289L	CC2D1A_ENST00000589606.1_Missense_Mutation_p.V289L	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	289	Pro-rich.				positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|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 negative regulation of transcription (GO:0001078)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			ACACTTCCGCGTGGCTAAGGT	0.632																																																0													9	11	10					19																	14028999		2035	4174	6209	SO:0001583	missense	54862			AF536205	CCDS42512.1	19p13.12	2007-01-08				ENSG00000132024			30237	protein-coding gene	gene with protein product	"mental retardation, nonsyndromic, autosomal recessive, 3"	610055				12761501, 16033914	Standard	NM_017721		Approved	FLJ20241, MRT3	uc002mxo.2	Q6P1N0		ENST00000318003.7:c.865G>T	chr19.hg19:g.14028999G>T	ENSP00000313601:p.Val289Leu		Q7Z435|Q86XV0|Q8NF89|Q9H603|Q9NXI1	Missense_Mutation	SNP	ENST00000318003.7	hg19	CCDS42512.1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.760509	0.31137	.	.	ENSG00000132024	ENST00000318003;ENST00000397486	T	0.23147	1.92	5.38	4.32	0.51571	Domain of unknown function DM14 (1);	0.244121	0.35291	N	0.003314	T	0.20007	0.0481	L	0.47716	1.5	0.34644	D	0.72099	P;B;P	0.43909	0.543;0.33;0.821	B;B;B	0.36719	0.198;0.126;0.231	T	0.30679	-0.9970	10	0.30854	T	0.27	-20.8199	10.4966	0.44780	0.0918:0.0:0.9082:0.0	.	289;289;43	Q6P1N0-2;Q6P1N0;C9J1T8	.;C2D1A_HUMAN;.	L	289;43	ENSP00000313601:V289L	ENSP00000313601:V289L	V	+	1	0	CC2D1A	13889999	0.936000	0.31750	0.936000	0.37596	0.192000	0.23643	1.812000	0.38952	1.235000	0.43724	0.655000	0.94253	GTG		0.632	CC2D1A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457954.1	NM_017721		T	14028999	G	T	14028999	3	4	663	1	0	0	0	0	1	0	0	0	2728	1145	40	4	891	4	CC2D1A	19	14028999	Missense_Mutation	SNP	G	TCGA-GL-A4EM-01A-11D-A25F-10		14028999	45099984	57	36171											
GRAMD1A	57655	hgsc.bcm.edu	37	19	35505160	35505160	+	Missense_Mutation	SNP	C	C	G			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr19:35505160C>G	ENST00000317991.5	+	10	1130	c.938C>G	c.(937-939)cCg>cGg	p.P313R	GRAMD1A_ENST00000599564.1_Missense_Mutation_p.P400R|GRAMD1A_ENST00000411896.2_Missense_Mutation_p.P306R|GRAMD1A_ENST00000504615.2_Missense_Mutation_p.P79R|CTD-2527I21.14_ENST00000605640.1_RNA	NM_020895.3	NP_065946.2	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	313						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)			ACAGTGACCCCGGTGGCTGAA	0.652																																																0													48	61	57					19																	35505160		2097	4240	6337	SO:0001583	missense	57655			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.938C>G	chr19.hg19:g.35505160C>G	ENSP00000441032:p.Pro313Arg		A6NKY7|Q8NC77|Q9P1Z5	Missense_Mutation	SNP	ENST00000317991.5	hg19	CCDS42546.1	.	.	.	.	.	.	.	.	.	.	C	18.05	3.536733	0.65085	.	.	ENSG00000089351	ENST00000453966;ENST00000504615;ENST00000317991;ENST00000411896	T;T;T	0.47177	0.85;1.89;1.9	4.44	4.44	0.53790	.	0.367080	0.24580	N	0.037308	T	0.54647	0.1871	L	0.34521	1.04	0.50039	D	0.999843	P;D;D;D;D	0.76494	0.484;0.997;0.999;0.964;0.997	B;P;D;P;D	0.75484	0.215;0.901;0.986;0.694;0.963	T	0.44174	-0.9345	10	0.18276	T	0.48	.	14.5907	0.68362	0.0:1.0:0.0:0.0	.	313;313;79;306;400	Q96CP6-3;Q96CP6;B3KQF7;Q96CP6-2;F5GZ02	.;GRM1A_HUMAN;.;.;.	R	400;79;313;306	ENSP00000423728:P79R;ENSP00000441032:P313R;ENSP00000439267:P306R	ENSP00000441032:P313R	P	+	2	0	GRAMD1A	40197000	0.272000	0.24172	0.963000	0.40424	0.951000	0.60555	1.956000	0.40382	2.309000	0.77851	0.491000	0.48974	CCG		0.652	GRAMD1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461557.1	NM_020895		G	35505160	C	G	35505160	3	3	663	1	0	0	0	0	1	0	0	0	6749	652	23	4	976	4	GRAMD1A	19	35505160	Missense_Mutation	SNP	C	TCGA-GL-A4EM-01A-11D-A25F-10	21476161	35505160	23623823	58	36172											
ZNF154	7710	hgsc.bcm.edu	37	19	58213806	58213806	+	Missense_Mutation	SNP	T	T	C			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr19:58213806T>C	ENST00000512439.2	-	3	707	c.511A>G	c.(511-513)Agc>Ggc	p.S171G	ZNF154_ENST00000426889.1_Missense_Mutation_p.S171G|AC003006.7_ENST00000599221.1_Intron|ZNF551_ENST00000596085.1_Intron|AC003006.7_ENST00000594684.1_Intron			Q13106	ZN154_HUMAN	zinc finger protein 154	171					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(7)|lung(3)	12		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;0.0257)		TAGCTTTTGCTAAAGGATTTC	0.433																																																0													215	215	215					19																	58213806		2165	4285	6450	SO:0001583	missense	7710			U20648	CCDS42639.1	19q13.4	2013-01-08	2006-08-22		ENSG00000179909	ENSG00000179909		"Zinc fingers, C2H2-type", "-"	12939	protein-coding gene	gene with protein product		604085	"zinc finger protein 154 (pHZ-92)"			7557990	Standard	XR_243957		Approved	pHZ-92	uc010euf.3	Q13106	OTTHUMG00000140375	ENST00000512439.2:c.511A>G	chr19.hg19:g.58213806T>C	ENSP00000421258:p.Ser171Gly		A7MCY3|Q8IVG7|Q8NAR0	Missense_Mutation	SNP	ENST00000512439.2	hg19	CCDS42639.1	.	.	.	.	.	.	.	.	.	.	T	15.85	2.953447	0.53293	.	.	ENSG00000179909	ENST00000512439;ENST00000426889;ENST00000396157	T;T	0.07688	3.17;3.17	3.03	2.0	0.26442	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08044	0.0201	L	0.55834	1.745	0.09310	N	1	B	0.15141	0.012	B	0.04013	0.001	T	0.34825	-0.9813	9	0.52906	T	0.07	.	2.5259	0.04691	0.2336:0.1338:0.0:0.6326	.	171	Q13106	ZN154_HUMAN	G	171;171;42	ENSP00000421258:S171G;ENSP00000442370:S171G	ENSP00000440907:S42G	S	-	1	0	ZNF154	62905618	0.001000	0.12720	0.015000	0.15790	0.941000	0.58515	0.218000	0.17622	0.559000	0.29153	0.459000	0.35465	AGC		0.433	ZNF154-002	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277102.2			C	58213806	T	C	58213806	3	2	663	1	0	0	0	0	1	0	0	0	17740	1522	53	3	806	3	ZNF154	19	58213806	Missense_Mutation	SNP	T	TCGA-GL-A4EM-01A-11D-A25F-10	22708646	58213806	915177	59	36173											
ZNF814	730051	hgsc.bcm.edu	37	19	58385793	58385793	+	Missense_Mutation	SNP	C	C	T	rs113623532		TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr19:58385793C>T	ENST00000435989.2	-	3	1199	c.965G>A	c.(964-966)aGa>aAa	p.R322K	ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	322					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						TTCATAAGGTCTTTTCCCAGT	0.358																																																0													15	12	13					19																	58385793		687	1562	2249	SO:0001583	missense	730051				CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.965G>A	chr19.hg19:g.58385793C>T	ENSP00000410545:p.Arg322Lys		A6NF35	Missense_Mutation	SNP	ENST00000435989.2	hg19	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	0.023	-1.395361	0.01175	.	.	ENSG00000204514	ENST00000435989	T	0.12361	2.69	2.27	9.47E-4	0.14044	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03608	0.0103	N	0.02225	-0.63	0.09310	N	0.999999	B	0.29301	0.241	B	0.28916	0.096	T	0.40534	-0.9558	9	0.02654	T	1	.	4.6969	0.12808	0.0:0.4166:0.0:0.5834	.	322	B7Z6K7	ZN814_HUMAN	K	322	ENSP00000410545:R322K	ENSP00000410545:R322K	R	-	2	0	ZNF814	63077605	0.000000	0.05858	0.024000	0.17045	0.009000	0.06853	-1.883000	0.01623	0.331000	0.23511	-1.381000	0.01174	AGA		0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		T	58385793	C	T	58385793	3	4	663	1	0	0	0	0	1	0	0	0	18181	913	32	2	1606	2	ZNF814	19	58385793	Missense_Mutation	SNP	C	TCGA-GL-A4EM-01A-11D-A25F-10	171987	58385793	743190	60	36174											
C20orf117	140710	hgsc.bcm.edu	37	20	35443624	35443624	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr20:35443624C>T	ENST00000357779.3	-	5	1833	c.1507G>A	c.(1507-1509)Gaa>Aaa	p.E503K	SOGA1_ENST00000456801.2_Missense_Mutation_p.E344K|SOGA1_ENST00000279034.6_Missense_Mutation_p.E503K|SOGA1_ENST00000237536.4_Missense_Mutation_p.E741K			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	503					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						TCCTGCTGTTCCTTGACAGAG	0.577																																																0													84	95	91					20																	35443624		2173	4275	6448	SO:0001583	missense	140710			AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"suppressor of glucose by autophagy", "suppressor of glucose from autophagy"		"chromosome 20 open reading frame 117", "KIAA0889"	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.1507G>A	chr20.hg19:g.35443624C>T	ENSP00000350424:p.Glu503Lys		A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Missense_Mutation	SNP	ENST00000357779.3	hg19		.	.	.	.	.	.	.	.	.	.	C	18.14	3.556991	0.65425	.	.	ENSG00000149639	ENST00000237536;ENST00000279034;ENST00000456801;ENST00000357779	T;T;T;T	0.22743	1.99;1.94;1.98;1.98	5.72	5.72	0.89469	.	0.594212	0.17064	N	0.188438	T	0.45677	0.1354	M	0.63843	1.955	0.52501	D	0.999954	D	0.89917	1.0	D	0.87578	0.998	T	0.04991	-1.0913	10	0.27082	T	0.32	-37.714	18.6578	0.91460	0.0:1.0:0.0:0.0	.	503	O94964-4	.	K	741;503;344;503	ENSP00000237536:E741K;ENSP00000279034:E503K;ENSP00000413886:E344K;ENSP00000350424:E503K	ENSP00000237536:E741K	E	-	1	0	KIAA0889	34877038	1.000000	0.71417	0.999000	0.59377	0.042000	0.13812	3.774000	0.55341	2.706000	0.92434	0.561000	0.74099	GAA		0.577	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181		T	35443624	C	T	35443624	3	4	663	1	0	0	0	0	1	0	0	0	2085	864	30	2	2870	2	C20orf117	20	35443624	Missense_Mutation	SNP	C	TCGA-GL-A4EM-01A-11D-A25F-10		35443624	27581896	61	36175											
FOXO4	4303	hgsc.bcm.edu	37	X	70316474	70316474	+	Silent	SNP	C	C	T			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chrX:70316474C>T	ENST00000374259.3	+	1	428	c.96C>T	c.(94-96)acC>acT	p.T32T	FOXO4_ENST00000341558.3_Silent_p.T32T|FOXO4_ENST00000466874.1_3'UTR	NM_001170931.1|NM_005938.3	NP_001164402.1|NP_005929.2	P98177	FOXO4_HUMAN	forkhead box O4	32				QSRPRSCTWP -> RAVPLLHLA (in Ref. 1; CAA72156). {ECO:0000305}.	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)					GCTCCTGCACCTGGCCCCTTC	0.637																																																0													24	27	26					X																	70316474		1951	4125	6076	SO:0001819	synonymous_variant	4303				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.96C>T	chrX.hg19:g.70316474C>T			B7WPJ7|O43821|Q13720|Q3KPF1|Q8TDK9	Silent	SNP	ENST00000374259.3	hg19	CCDS43969.1																																																																																				0.637	FOXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057115.1	NM_005938		T	70316474	C	T	70316474	2	4	663	1	0	0	0	0	0	0	0	1	6027	668	24	2		2	FOXO4	23	70316474	Silent	SNP	C	TCGA-GL-A4EM-01A-11D-A25F-10		70316474	84954086	62	36176											
OCRL	4952	hgsc.bcm.edu	37	X	128678970	128678970	+	Missense_Mutation	SNP	T	T	G			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chrX:128678970T>G	ENST00000371113.4	+	3	320	c.155T>G	c.(154-156)gTt>gGt	p.V52G	OCRL_ENST00000486673.1_3'UTR|OCRL_ENST00000357121.5_Missense_Mutation_p.V52G	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	52	PH.				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						GAACAGCATGTTCAAGATATC	0.348																																																0													178	153	162					X																	128678970		2203	4300	6503	SO:0001583	missense	4952			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.155T>G	chrX.hg19:g.128678970T>G	ENSP00000360154:p.Val52Gly		A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000371113.4	hg19	CCDS35393.1	.	.	.	.	.	.	.	.	.	.	T	12.47	1.946658	0.34377	.	.	ENSG00000122126	ENST00000371113;ENST00000357121	D;D	0.94376	-3.41;-3.41	5.36	3.03	0.35002	.	0.751295	0.12380	N	0.473987	D	0.84938	0.5583	N	0.14661	0.345	0.47341	D	0.999398	B;B	0.19200	0.034;0.02	B;B	0.19946	0.027;0.019	T	0.80174	-0.1492	10	0.42905	T	0.14	.	5.7638	0.18215	0.0:0.1888:0.0:0.8112	.	52;52	Q01968-2;Q01968	.;OCRL_HUMAN	G	52	ENSP00000360154:V52G;ENSP00000349635:V52G	ENSP00000349635:V52G	V	+	2	0	OCRL	128506651	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.736000	0.26130	1.780000	0.52325	0.417000	0.27973	GTT		0.348	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	NM_000276		G	128678970	T	G	128678970	3	3	663	1	0	0	0	0	1	0	0	0	10825	1725	60	5	165	5	OCRL	23	128678970	Missense_Mutation	SNP	T	TCGA-GL-A4EM-01A-11D-A25F-10	58362496	128678970	26591590	63	36177											
TTC4	7268	hgsc.bcm.edu	37	1	55183223	55183223	+	Missense_Mutation	SNP	G	G	C			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr1:55183223G>C	ENST00000371281.3	+	3	375	c.288G>C	c.(286-288)aaG>aaC	p.K96N	MROH7-TTC4_ENST00000414150.2_Missense_Mutation_p.R1332T|TTC4_ENST00000371284.5_3'UTR	NM_004623.4	NP_004614.3	O95801	TTC4_HUMAN	tetratricopeptide repeat domain 4	96										breast(2)|endometrium(3)|kidney(1)|lung(2)|stomach(1)	9						AAGACTACAAGAAAGCTGTAA	0.368																																																0													64	63	64					1																	55183223		2203	4300	6503	SO:0001583	missense	7268				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.288G>C	chr1.hg19:g.55183223G>C	ENSP00000360329:p.Lys96Asn		Q53Y95|Q5TA96|Q9H3I2	Missense_Mutation	SNP	ENST00000371281.3	hg19	CCDS596.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.424330	0.43020	.	.	ENSG00000243725	ENST00000371281;ENST00000371284	T	0.61040	0.14	3.97	1.82	0.25136	Elongated TPR repeat-containing domain (1);Tetratricopeptide repeat-containing (1);	.	.	.	.	T	0.42877	0.1222	L	0.38838	1.175	0.46185	D	0.998919	B;P	0.34977	0.058;0.478	B;B	0.34824	0.056;0.19	T	0.19549	-1.0302	9	0.45353	T	0.12	-17.6511	6.6318	0.22861	0.303:0.0:0.697:0.0	.	96;107	O95801;Q5TA95	TTC4_HUMAN;.	N	96;107	ENSP00000360329:K96N	ENSP00000360329:K96N	K	+	3	2	TTC4	54955811	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.484000	0.45242	0.311000	0.23014	0.563000	0.77884	AAG		0.368	TTC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027432.1	NM_004623		C	55183223	G	C	55183223	3	2	664	1	0	0	0	0	1	0	0	0	16715	933	33	4	298	4	TTC4	1	55183223	Missense_Mutation	SNP	G	TCGA-GL-A59R-01A-11D-A26P-10		55183223	194067398	1	36178											
ALG6	29929	hgsc.bcm.edu	37	1	63868011	63868011	+	Frame_Shift_Del	DEL	A	A	-			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr1:63868011delA	ENST00000371108.4	+	4	559	c.254delA	c.(253-255)tatfs	p.Y85fs	ALG6_ENST00000263440.4_Frame_Shift_Del_p.Y85fs	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN	ALG6, alpha-1,3-glucosyltransferase	85					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						CTATGTGCATATGTGTAAGTT	0.353																																																0													118	114	116					1																	63868011		2202	4300	6502	SO:0001589	frameshift_variant	29929			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.254delA	chr1.hg19:g.63868011delA	ENSP00000360149:p.Tyr85fs		B3KMU2|Q5SXR9|Q9H3I0	Frame_Shift_Del	DEL	ENST00000371108.4	hg19	CCDS30735.1																																																																																				0.353	ALG6-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025330.2	NM_013339		-	63868011	A	-	63868011	7	5	664	1	0	1	0	1	0	0	0	0	522	449	16	0	264	0	ALG6	1	63868011	Frame_Shift_Del	DEL	A	TCGA-GL-A59R-01A-11D-A26P-10	8684788	63868011	185382610	2	36179											
ASH1L	55870	hgsc.bcm.edu	37	1	155313421	155313421	+	Silent	SNP	G	G	A			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr1:155313421G>A	ENST00000368346.3	-	23	8748	c.8109C>T	c.(8107-8109)cgC>cgT	p.R2703R	ASH1L_ENST00000392403.3_Silent_p.R2698R|MIR555_ENST00000384987.1_RNA			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2703	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				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)			GCTTCTCAATGCGAAAGATGT	0.493																																																0													114	109	110					1																	155313421		2203	4300	6503	SO:0001819	synonymous_variant	55870			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.8109C>T	chr1.hg19:g.155313421G>A			Q59GP1|Q5T714|Q5T715|Q9P2C7	Silent	SNP	ENST00000368346.3	hg19																																																																																					0.493	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		A	155313421	G	A	155313421	2	1	664	1	0	0	0	0	0	0	0	1	1041	1306	46	2		2	ASH1L	1	155313421	Silent	SNP	G	TCGA-GL-A59R-01A-11D-A26P-10	91445410	155313421	93937200	3	36180											
LMNA	4000	hgsc.bcm.edu	37	1	156107474	156107474	+	Silent	SNP	A	A	C			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr1:156107474A>C	ENST00000368300.4	+	10	1850	c.1638A>C	c.(1636-1638)tcA>tcC	p.S546S	LMNA_ENST00000347559.2_Intron|LMNA_ENST00000392353.3_Silent_p.S465S|LMNA_ENST00000448611.2_Silent_p.S434S|LMNA_ENST00000368301.2_Silent_p.S546S|LMNA_ENST00000361308.4_Silent_p.S546S|LMNA_ENST00000368297.1_Silent_p.S465S|LMNA_ENST00000368299.3_Silent_p.S546S|LMNA_ENST00000496738.1_3'UTR|LMNA_ENST00000473598.2_Silent_p.S447S	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C	546	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)					TGGTGCGCTCAGTGACTGTGG	0.622									Werner syndrome;Hutchinson-Gilford Progeria Syndrome																																							0													64	45	51					1																	156107474		2174	4254	6428	SO:0001819	synonymous_variant	4000	Familial Cancer Database	WS, Adult Progeria;HGPS, Progeria	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.1638A>C	chr1.hg19:g.156107474A>C			B4DI32|D3DVB0|D6RAQ3|E7EUI9|P02546|Q5I6Y4|Q5I6Y6|Q5TCJ2|Q5TCJ3|Q6UYC3|Q969I8|Q96JA2	Silent	SNP	ENST00000368300.4	hg19	CCDS1129.1																																																																																				0.622	LMNA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039200.2	NM_170707		C	156107474	A	C	156107474	2	2	664	1	0	0	0	0	0	0	0	1	8850	175	7	5		5	LMNA	1	156107474	Silent	SNP	A	TCGA-GL-A59R-01A-11D-A26P-10	794053	156107474	93143147	4	36181											
C1orf125	126859	hgsc.bcm.edu	37	1	179339155	179339155	+	Missense_Mutation	SNP	C	C	G	rs577148644		TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr1:179339155C>G	ENST00000367618.3	+	4	703	c.316C>G	c.(316-318)Cga>Gga	p.R106G	AXDND1_ENST00000457238.2_Missense_Mutation_p.R106G|AXDND1_ENST00000461179.2_3'UTR	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	106										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						TCACCCTGTTCGAAGGAATAA	0.438																																																0													80	72	75					1																	179339155		2203	4300	6503	SO:0001583	missense	126859			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.316C>G	chr1.hg19:g.179339155C>G	ENSP00000356590:p.Arg106Gly		Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	ENST00000367618.3	hg19	CCDS30948.1	.	.	.	.	.	.	.	.	.	.	C	11.71	1.720207	0.30503	.	.	ENSG00000162779	ENST00000509175;ENST00000367618;ENST00000360322;ENST00000507383;ENST00000457238;ENST00000508285;ENST00000511889;ENST00000434088	T;T;T	0.52057	1.9;0.68;2.02	5.39	3.47	0.39725	.	0.176693	0.38605	N	0.001628	T	0.45256	0.1333	L	0.41710	1.295	0.19775	N	0.99996	D;D	0.53619	0.961;0.961	P;P	0.51453	0.67;0.67	T	0.34279	-0.9835	10	0.87932	D	0	0.9492	6.752	0.23491	0.1744:0.7348:0.0:0.0909	.	64;106	E9PCJ4;Q5T1B0	.;AXDN1_HUMAN	G	64;106;64;64;106;106;64;40	ENSP00000356590:R106G;ENSP00000416712:R106G;ENSP00000391716:R40G	ENSP00000353471:R64G	R	+	1	2	AXDND1	177605778	0.879000	0.30193	0.432000	0.26747	0.923000	0.55619	1.441000	0.35035	0.605000	0.29947	0.453000	0.30009	CGA		0.438	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696		G	179339155	C	G	179339155	3	3	664	1	0	0	0	0	1	0	0	0	1995	876	31	4	326	4	C1orf125	1	179339155	Missense_Mutation	SNP	C	TCGA-GL-A59R-01A-11D-A26P-10	23231681	179339155	69911466	5	36182											
CAPN13	92291	hgsc.bcm.edu	37	2	30987162	30987162	+	Missense_Mutation	SNP	A	A	G			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr2:30987162A>G	ENST00000295055.8	-	6	711	c.535T>C	c.(535-537)Tcc>Ccc	p.S179P	CAPN13_ENST00000465960.2_5'UTR|CAPN13_ENST00000534090.2_Missense_Mutation_p.S179P	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	179	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TCGGAATAGGATCCGAGCAGC	0.577																																																0													50	51	51					2																	30987162		2104	4217	6321	SO:0001583	missense	92291				CCDS46252.1	2p22-p21	2008-02-05			ENSG00000162949	ENSG00000162949			16663	protein-coding gene	gene with protein product		610228				11675017	Standard	NM_144575		Approved	FLJ23523	uc021vfm.1	Q6MZZ7	OTTHUMG00000152053	ENST00000295055.8:c.535T>C	chr2.hg19:g.30987162A>G	ENSP00000295055:p.Ser179Pro		Q17RF0|Q580X1|Q8TE80	Missense_Mutation	SNP	ENST00000295055.8	hg19	CCDS46252.1	.	.	.	.	.	.	.	.	.	.	A	18.41	3.618329	0.66787	.	.	ENSG00000162949	ENST00000295055;ENST00000534090	D;D	0.89552	-2.53;-2.53	5.22	5.22	0.72569	Peptidase C2, calpain, catalytic domain (3);	0.000000	0.85682	D	0.000000	D	0.96439	0.8838	H	0.97265	3.97	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97655	1.0157	10	0.72032	D	0.01	.	14.0703	0.64856	1.0:0.0:0.0:0.0	.	179	Q6MZZ7	CAN13_HUMAN	P	179	ENSP00000295055:S179P;ENSP00000431298:S179P	ENSP00000295055:S179P	S	-	1	0	CAPN13	30840666	1.000000	0.71417	0.951000	0.38953	0.450000	0.32258	4.956000	0.63645	1.970000	0.57323	0.379000	0.24179	TCC		0.577	CAPN13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325101.2	NM_144575		G	30987162	A	G	30987162	3	3	664	1	0	0	0	0	1	0	0	0	2628	333	12	3	1542	3	CAPN13	2	30987162	Missense_Mutation	SNP	A	TCGA-GL-A59R-01A-11D-A26P-10		30987162	212212211	6	36183											
XPO1	7514	hgsc.bcm.edu	37	2	61705989	61705989	+	Missense_Mutation	SNP	T	T	C			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr2:61705989T>C	ENST00000401558.2	-	25	3909	c.3182A>G	c.(3181-3183)aAt>aGt	p.N1061S	RP11-355B11.2_ENST00000603199.1_RNA|XPO1_ENST00000406957.1_Missense_Mutation_p.N1061S|XPO1_ENST00000404992.2_Missense_Mutation_p.N1061S|RP11-355B11.2_ENST00000603028.1_RNA|RP11-355B11.2_ENST00000578974.2_RNA|RP11-355B11.2_ENST00000603652.1_RNA	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1	1061					gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein export from nucleus (GO:0006611)|protein localization to nucleus (GO:0034504)|regulation of centrosome duplication (GO:0010824)|regulation of protein catabolic process (GO:0042176)|regulation of protein export from nucleus (GO:0046825)|response to drug (GO:0042493)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|RNA metabolic process (GO:0016070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleocytoplasmic transporter activity (GO:0005487)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			CTCATGTGGATTAAAGATGCC	0.393			Mis		CLL																																	-'	Dom	yes		2	2p15	7514	"exportin 1 (CRM1 homolog, yeast)"		L	0													137	137	137					2																	61705989		2203	4300	6503	SO:0001583	missense	7514			Y08614	CCDS33205.1	2p15	2014-02-19	2014-02-19		ENSG00000082898	ENSG00000082898		"Exportins"	12825	protein-coding gene	gene with protein product	"chromosome region maintenance 1 homolog (yeast)"	602559	"exportin 1 (CRM1, yeast, homolog)", "exportin 1 (CRM1 homolog, yeast)"			9205132, 9368044	Standard	XM_005264544		Approved	CRM1, emb	uc002sbj.3	O14980	OTTHUMG00000152316	ENST00000401558.2:c.3182A>G	chr2.hg19:g.61705989T>C	ENSP00000384863:p.Asn1061Ser		A6NL14|A8K1K5|D6W5E2|Q63HP8|Q68CP3|Q99433	Missense_Mutation	SNP	ENST00000401558.2	hg19	CCDS33205.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.120462	0.77323	.	.	ENSG00000082898	ENST00000401558;ENST00000404992;ENST00000406957	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.78007	0.4216	M	0.79258	2.445	0.58432	D	0.999996	D;D	0.76494	0.994;0.999	P;D	0.69307	0.888;0.963	T	0.76534	-0.2924	9	0.28530	T	0.3	-21.4772	15.9952	0.80234	0.0:0.0:0.0:1.0	.	708;1061	B3KWD0;O14980	.;XPO1_HUMAN	S	1061	.	ENSP00000384863:N1061S	N	-	2	0	XPO1	61559493	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.005000	0.88553	2.172000	0.68678	0.533000	0.62120	AAT		0.393	XPO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325872.3	NM_003400		C	61705989	T	C	61705989	3	2	664	1	0	0	0	0	1	0	0	0	17450	1493	52	3	37	3	XPO1	2	61705989	Missense_Mutation	SNP	T	TCGA-GL-A59R-01A-11D-A26P-10	30718827	61705989	181493384	7	36184											
FAM161A	84140	hgsc.bcm.edu	37	2	62067237	62067237	+	Missense_Mutation	SNP	T	T	C			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr2:62067237T>C	ENST00000405894.3	-	3	1003	c.902A>G	c.(901-903)aAg>aGg	p.K301R	FAM161A_ENST00000404929.1_Missense_Mutation_p.K301R	NM_032180.2	NP_115556.2	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	301					cilium assembly (GO:0042384)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTCTTTTTGCTTGACTAAATC	0.418																																																0													166	149	154					2																	62067237		1847	4095	5942	SO:0001583	missense	84140				CCDS42687.2, CCDS56120.1	2p15	2011-03-15			ENSG00000170264	ENSG00000170264			25808	protein-coding gene	gene with protein product		613596	"retinitis pigmentosa 28 (autosomal recessive)"	RP28		10507729, 20705278, 20705279	Standard	NM_032180		Approved	FLJ13305	uc002sbm.4	Q3B820	OTTHUMG00000152165	ENST00000405894.3:c.902A>G	chr2.hg19:g.62067237T>C	ENSP00000385893:p.Lys301Arg		B4DJV7|Q9H8R2	Missense_Mutation	SNP	ENST00000405894.3	hg19	CCDS42687.2	.	.	.	.	.	.	.	.	.	.	T	13.72	2.322375	0.41096	.	.	ENSG00000170264	ENST00000404929;ENST00000405894	T;T	0.22336	1.96;1.96	5.41	4.26	0.50523	.	0.176973	0.44902	D	0.000408	T	0.22205	0.0535	L	0.52573	1.65	0.29380	N	0.863369	B;B	0.30563	0.285;0.074	B;B	0.34931	0.192;0.064	T	0.10314	-1.0635	10	0.44086	T	0.13	-18.3941	10.8689	0.46872	0.0:0.0746:0.0:0.9254	.	301;301	Q3B820;Q3B820-3	F161A_HUMAN;.	R	301	ENSP00000385158:K301R;ENSP00000385893:K301R	ENSP00000385158:K301R	K	-	2	0	FAM161A	61920741	1.000000	0.71417	0.997000	0.53966	0.900000	0.52787	2.205000	0.42770	0.884000	0.36064	0.533000	0.62120	AAG		0.418	FAM161A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325537.2	NM_032180		C	62067237	T	C	62067237	3	2	664	1	0	0	0	0	1	0	0	0	5474	1609	56	3	1096	3	FAM161A	2	62067237	Missense_Mutation	SNP	T	TCGA-GL-A59R-01A-11D-A26P-10	361248	62067237	181132136	8	36185											
RTKN	6242	hgsc.bcm.edu	37	2	74656034	74656034	+	Missense_Mutation	SNP	A	A	G			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr2:74656034A>G	ENST00000233330.6	-	7	958	c.641T>C	c.(640-642)cTc>cCc	p.L214P	RTKN_ENST00000272430.5_Missense_Mutation_p.L264P|RTKN_ENST00000305557.5_Missense_Mutation_p.L251P	NM_001015056.1	NP_001015056.1			rhotekin											endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						TGCCAGGGTGAGTGTGGTGTG	0.552																																																0													192	128	150					2																	74656034		2203	4300	6503	SO:0001583	missense	6242			AF049227	CCDS1941.1, CCDS33226.1, CCDS42699.1	2p13.1	2013-01-10			ENSG00000114993	ENSG00000114993		"Pleckstrin homology (PH) domain containing"	10466	protein-coding gene	gene with protein product		602288				9073523, 10940294	Standard	XM_005264478		Approved	B5	uc002sle.3	Q9BST9	OTTHUMG00000129955	ENST00000233330.6:c.641T>C	chr2.hg19:g.74656034A>G	ENSP00000233330:p.Leu214Pro			Missense_Mutation	SNP	ENST00000233330.6	hg19	CCDS42699.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.545730	0.86022	.	.	ENSG00000114993	ENST00000305557;ENST00000272430;ENST00000233330	T;T;T	0.65178	-0.14;-0.14;-0.14	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.78291	0.4260	M	0.76170	2.325	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.81055	-0.1106	10	0.87932	D	0	.	13.6415	0.62253	1.0:0.0:0.0:0.0	.	264;251	Q9BST9;Q9BST9-2	RTKN_HUMAN;.	P	251;264;214	ENSP00000305298:L251P;ENSP00000272430:L264P;ENSP00000233330:L214P	ENSP00000233330:L214P	L	-	2	0	RTKN	74509542	1.000000	0.71417	0.991000	0.47740	0.971000	0.66376	8.673000	0.91186	2.128000	0.65567	0.459000	0.35465	CTC		0.552	RTKN-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000328236.3	NM_001015055		G	74656034	A	G	74656034	3	3	664	1	0	0	0	0	1	0	0	0	13728	304	11	3	924	3	RTKN	2	74656034	Missense_Mutation	SNP	A	TCGA-GL-A59R-01A-11D-A26P-10	12588797	74656034	168543339	9	36186											
DNAH6	1768	hgsc.bcm.edu	37	2	84846836	84846836	+	Silent	SNP	T	T	G			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr2:84846836T>G	ENST00000237449.6	+	23	3608	c.3600T>G	c.(3598-3600)ctT>ctG	p.L1200L	DNAH6_ENST00000398278.2_Silent_p.L1200L|DNAH6_ENST00000389394.3_Silent_p.L1200L			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	1200	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						ATGATGAACTTCTGGAGATTT	0.383																																																0													138	114	121					2																	84846836		692	1591	2283	SO:0001819	synonymous_variant	1768			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"Axonemal dyneins"	2951	protein-coding gene	gene with protein product		603336	"dynein, axonemal, heavy polypeptide 6", "dynein heavy chain-like 1"	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.3600T>G	chr2.hg19:g.84846836T>G			A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Silent	SNP	ENST00000237449.6	hg19	CCDS46348.1																																																																																				0.383	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370		G	84846836	T	G	84846836	2	3	664	1	0	0	0	0	0	0	0	1	4607	1770	62	5		5	DNAH6	2	84846836	Silent	SNP	T	TCGA-GL-A59R-01A-11D-A26P-10	10190802	84846836	158352537	10	36187											
NEB	4703	hgsc.bcm.edu	37	2	152390040	152390040	+	Intron	SNP	G	G	T			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr2:152390040G>T	ENST00000172853.10	-	115	16462				NEB_ENST00000397345.3_Silent_p.A7111A|NEB_ENST00000604864.1_Intron|NEB_ENST00000427231.2_Intron|NEB_ENST00000603639.1_Silent_p.A7111A|NEB_ENST00000409198.1_Intron			P20929	NEBU_HUMAN	nebulin						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)		GAAACATCTTGGCACTAGATT	0.413																																																0													182	146	157					2																	152390040		692	1591	2283	SO:0001627	intron_variant	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.16314+688C>A	chr2.hg19:g.152390040G>T			F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	hg19																																																																																					0.413	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		T	152390040	G	T	152390040	1	4	664	0	1	0	0	0	0	0	0	0	10304	1335	47	4		4	NEB	2	152390040	Intron	SNP	G	TCGA-GL-A59R-01A-11D-A26P-10	67543204	152390040	90809333	11	36188											
AGPS	8540	hgsc.bcm.edu	37	2	178257747	178257747	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr2:178257747C>T	ENST00000264167.4	+	1	376	c.230C>T	c.(229-231)gCg>gTg	p.A77V	NFE2L2_ENST00000464747.1_5'Flank|AGPS_ENST00000409888.1_Missense_Mutation_p.A77V|AC074286.1_ENST00000397057.2_RNA	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	77					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)			ACTCCCGCCGCGCAGGAGTCG	0.692																																																0													2	2	2					2																	178257747		1370	2704	4074	SO:0001583	missense	8540			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.230C>T	chr2.hg19:g.178257747C>T	ENSP00000264167:p.Ala77Val		A5D8U9|Q2TU35	Missense_Mutation	SNP	ENST00000264167.4	hg19	CCDS2275.1	.	.	.	.	.	.	.	.	.	.	C	18.28	3.589519	0.66105	.	.	ENSG00000018510	ENST00000264167;ENST00000409888	D	0.97328	-4.34	4.57	3.7	0.42460	.	0.000000	0.45126	D	0.000391	D	0.91543	0.7329	L	0.38531	1.155	0.23751	N	0.996949	P	0.38745	0.645	B	0.22386	0.039	D	0.84254	0.0479	10	0.29301	T	0.29	.	9.702	0.40192	0.0:0.902:0.0:0.098	.	77	O00116	ADAS_HUMAN	V	77	ENSP00000264167:A77V	ENSP00000264167:A77V	A	+	2	0	AGPS	177965993	0.089000	0.21612	0.781000	0.31783	0.978000	0.69477	0.687000	0.25407	1.138000	0.42230	0.655000	0.94253	GCG		0.692	AGPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255730.2			T	178257747	C	T	178257747	3	4	664	1	0	0	0	0	1	0	0	0	394	768	27	1	232	1	AGPS	2	178257747	Missense_Mutation	SNP	C	TCGA-GL-A59R-01A-11D-A26P-10	25867707	178257747	64941626	12	36189											
TTN	7273	hgsc.bcm.edu	37	2	179598544	179598545	+	Missense_Mutation	DNP	AC	AC	CA			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10	A|C	A|C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr2:179598544_179598545AC>CA	ENST00000591111.1	-	51	14844_14845	c.14620_14621GT>TG	c.(14620-14622)GTg>TGg	p.V4874W	TTN_ENST00000342992.6_Missense_Mutation_p.V3947W|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.V5191W			Q8WZ42	TITIN_HUMAN	titin	12256	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)			TGACCCTCTCACAGCAGCTTGC	0.426																																																0																																										SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.14620_14621delinsCA	chr2.hg19:g.179598544_179598545delinsCA	ENSP00000465570:p.Val4874Trp		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	hg19																																																																																					0.426	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		CA	179598545	AC	CA	179598544	3	2	664	1	0	0	0	0	1	0	0	0	16740	159	6	5	89197	5	TTN	2	179598544	Missense_Mutation	DNP	AC	TCGA-GL-A59R-01A-11D-A26P-10	1340797	179598544	63600829	13	36190											
FSIP2	401024	hgsc.bcm.edu	37	2	186672719	186672719	+	Missense_Mutation	SNP	T	T	C	rs377239551		TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr2:186672719T>C	ENST00000424728.1	+	17	18686	c.18686T>C	c.(18685-18687)aTt>aCt	p.I6229T	FSIP2_ENST00000343098.5_Missense_Mutation_p.I6318T			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	6229										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AAAAGTAAGATTAAACTTGTA	0.308																																																0								T	THR/ILE	0,3640		0,0,1820	32	29	30		18953	5.1	1	2		30	1,8109		0,1,4054	no	missense	FSIP2	NM_173651.2	89	0,1,5874	CC,CT,TT		0.0123,0.0,0.0085	probably-damaging	6318/6997	186672719	1,11749	1820	4055	5875	SO:0001583	missense	401024			AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.18686T>C	chr2.hg19:g.186672719T>C	ENSP00000401306:p.Ile6229Thr		Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	ENST00000424728.1	hg19		.	.	.	.	.	.	.	.	.	.	T	15.95	2.984130	0.53827	0.0	1.23E-4	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.60797	0.16;0.16	5.07	5.07	0.68467	.	0.235594	0.29737	N	0.011328	T	0.61825	0.2378	L	0.52011	1.625	0.34264	D	0.680189	.	.	.	.	.	.	T	0.74544	-0.3630	8	0.72032	D	0.01	.	11.132	0.48351	0.0:0.0:0.0:1.0	.	.	.	.	T	6318;6229	ENSP00000344403:I6318T;ENSP00000401306:I6229T	ENSP00000344403:I6318T	I	+	2	0	FSIP2	186380964	1.000000	0.71417	0.983000	0.44433	0.928000	0.56348	3.872000	0.56085	2.130000	0.65690	0.397000	0.26171	ATT		0.308	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651		C	186672719	T	C	186672719	3	2	664	1	0	0	0	0	1	0	0	0	6077	1493	52	3	19019	3	FSIP2	2	186672719	Missense_Mutation	SNP	T	TCGA-GL-A59R-01A-11D-A26P-10	7074175	186672719	56526654	14	36191											
SF3B1	23451	hgsc.bcm.edu	37	2	198265131	198265131	+	Missense_Mutation	SNP	T	T	C			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr2:198265131T>C	ENST00000335508.6	-	19	2837	c.2746A>G	c.(2746-2748)Aca>Gca	p.T916A	SF3B1_ENST00000462613.1_5'Flank	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	916					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)			TTAACCACTGTGCCAAAGCCG	0.358			Mis		myelodysplastic syndrome																																		Dom	yes		2	2q33.1	23451	"splicing factor 3b, subunit 1, 155kDa"		L	0													97	95	95					2																	198265131		2203	4300	6503	SO:0001583	missense	23451			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.2746A>G	chr2.hg19:g.198265131T>C	ENSP00000335321:p.Thr916Ala		E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	hg19	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	T	15.50	2.851230	0.51270	.	.	ENSG00000115524	ENST00000335508	.	.	.	5.87	5.87	0.94306	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.57695	0.2071	L	0.48174	1.505	0.80722	D	1	B	0.14012	0.009	B	0.21360	0.034	T	0.51903	-0.8646	9	0.29301	T	0.29	.	16.5764	0.84681	0.0:0.0:0.0:1.0	.	916	O75533	SF3B1_HUMAN	A	916	.	ENSP00000335321:T916A	T	-	1	0	SF3B1	197973376	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.910000	0.87451	2.371000	0.80710	0.533000	0.62120	ACA		0.358	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			C	198265131	T	C	198265131	3	2	664	1	0	0	0	0	1	0	0	0	14155	1696	59	3	1196	3	SF3B1	2	198265131	Missense_Mutation	SNP	T	TCGA-GL-A59R-01A-11D-A26P-10	11592412	198265131	44934242	15	36192											
RAF1	5894	hgsc.bcm.edu	37	3	12653543	12653543	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr3:12653543delT	ENST00000251849.4	-	3	665	c.226delA	c.(226-228)atgfs	p.M76fs	RAF1_ENST00000542177.1_Intron|RAF1_ENST00000442415.2_Frame_Shift_Del_p.M76fs|RAF1_ENST00000534997.1_5'Flank	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	Raf-1 proto-oncogene, serine/threonine kinase	76	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)	TGCAAGCTCATTCCATTTCGC	0.498			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome																														Dom	yes		3	3p25	5894	v-raf-1 murine leukemia viral oncogene homolog 1		M	0													154	137	143					3																	12653543		2203	4300	6503	SO:0001589	frameshift_variant	5894	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	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.226delA	chr3.hg19:g.12653543delT	ENSP00000251849:p.Met76fs		B0LPH8|B2R5N3|Q15278|Q9UC20	Frame_Shift_Del	DEL	ENST00000251849.4	hg19	CCDS2612.1																																																																																				0.498	RAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252015.2	NM_002880		-	12653543	T	-	12653543	7	5	664	1	0	1	0	1	0	0	0	0	13008	1493	52	0	1780	0	RAF1	3	12653543	Frame_Shift_Del	DEL	T	TCGA-GL-A59R-01A-11D-A26P-10		12653543	185368887	16	36193											
SCN11A	11280	hgsc.bcm.edu	37	3	38966961	38966961	+	Missense_Mutation	SNP	C	C	G			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr3:38966961C>G	ENST00000302328.3	-	5	855	c.657G>C	c.(655-657)ttG>ttC	p.L219F	SCN11A_ENST00000444237.2_Missense_Mutation_p.L219F|SCN11A_ENST00000450244.1_Missense_Mutation_p.L219F|SCN11A_ENST00000456224.3_Missense_Mutation_p.L219F	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	219					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)	TACGCAGGGGCAATAGTTTGA	0.463																																																0													162	136	145					3																	38966961		2203	4300	6503	SO:0001583	missense	11280			AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10583	protein-coding gene	gene with protein product		604385	"sodium channel, voltage-gated, type XI, alpha polypeptide", "sodium channel, voltage-gated, type XII, alpha"	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.657G>C	chr3.hg19:g.38966961C>G	ENSP00000307599:p.Leu219Phe		A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	hg19	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.808991	0.50421	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.97404	-4.37;-4.37;-4.37;-4.37	4.79	-4.0	0.04057	Ion transport (1);	0.225617	0.39210	N	0.001423	D	0.94515	0.8234	L	0.55481	1.735	0.09310	N	1	P	0.50819	0.939	P	0.49192	0.602	D	0.89878	0.4028	10	0.87932	D	0	.	5.7293	0.18030	0.0:0.2152:0.3973:0.3874	.	219	Q9UI33	SCNBA_HUMAN	F	219	ENSP00000307599:L219F;ENSP00000400945:L219F;ENSP00000416757:L219F;ENSP00000408028:L219F	ENSP00000307599:L219F	L	-	3	2	SCN11A	38941965	0.002000	0.14202	0.003000	0.11579	0.008000	0.06430	-1.047000	0.03521	-0.513000	0.06496	0.467000	0.42956	TTG		0.463	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		G	38966961	C	G	38966961	3	3	664	1	0	0	0	0	1	0	0	0	13919	709	25	4	4806	4	SCN11A	3	38966961	Missense_Mutation	SNP	C	TCGA-GL-A59R-01A-11D-A26P-10	26313418	38966961	159055469	17	36194											
PLXNB1	5364	hgsc.bcm.edu	37	3	48465285	48465285	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr3:48465285C>T	ENST00000358536.4	-	3	1005	c.736G>A	c.(736-738)Gcc>Acc	p.A246T	PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000358459.4_Missense_Mutation_p.A246T|PLXNB1_ENST00000456774.1_Missense_Mutation_p.A246T|PLXNB1_ENST00000296440.6_Missense_Mutation_p.A246T	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	246	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				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)		GATACATAGGCACGAAAAGCT	0.607																																																0													62	58	59					3																	48465285		2202	4300	6502	SO:0001583	missense	5364			X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"Plexins"	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.736G>A	chr3.hg19:g.48465285C>T	ENSP00000351338:p.Ala246Thr		A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	ENST00000358536.4	hg19	CCDS2765.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.836487	0.00579	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000456774	T;T;T;T	0.02944	4.1;4.1;4.1;4.1	4.41	2.58	0.30949	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.176749	0.38436	N	0.001699	T	0.00666	0.0022	N	0.00201	-1.865	0.80722	D	1	B;B	0.12013	0.001;0.005	B;B	0.10450	0.005;0.004	T	0.41324	-0.9515	10	0.07325	T	0.83	.	4.5893	0.12299	0.0:0.2937:0.3661:0.3403	.	246;246	O43157;O43157-2	PLXB1_HUMAN;.	T	246	ENSP00000296440:A246T;ENSP00000351242:A246T;ENSP00000351338:A246T;ENSP00000414199:A246T	ENSP00000296440:A246T	A	-	1	0	PLXNB1	48440289	0.995000	0.38212	0.188000	0.23233	0.006000	0.05464	2.590000	0.46154	0.308000	0.22923	-0.229000	0.12294	GCC		0.607	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673		T	48465285	C	T	48465285	3	4	664	1	0	0	0	0	1	0	0	0	12125	710	25	2	5815	2	PLXNB1	3	48465285	Missense_Mutation	SNP	C	TCGA-GL-A59R-01A-11D-A26P-10	9498324	48465285	149557145	18	36195											
NISCH	11188	hgsc.bcm.edu	37	3	52505969	52505969	+	Silent	SNP	C	C	T			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr3:52505969C>T	ENST00000479054.1	+	6	621	c.549C>T	c.(547-549)ttC>ttT	p.F183F	NISCH_ENST00000420808.2_Silent_p.F183F|NISCH_ENST00000345716.4_Silent_p.F183F|NISCH_ENST00000488380.1_Silent_p.F183F			Q9Y2I1	NISCH_HUMAN	nischarin	183	Necessary for homooligomerization and 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)	TCCTGGACTTCACCTGTCGCC	0.632											OREG0015615	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													59	60	60					3																	52505969		2203	4300	6503	SO:0001819	synonymous_variant	11188			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.549C>T	chr3.hg19:g.52505969C>T		985	C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Silent	SNP	ENST00000479054.1	hg19	CCDS33767.1																																																																																				0.632	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184		T	52505969	C	T	52505969	2	4	664	1	0	0	0	0	0	0	0	1	10434	825	29	2		2	NISCH	3	52505969	Silent	SNP	C	TCGA-GL-A59R-01A-11D-A26P-10	4040684	52505969	145516461	19	36196											
SKIL	6498	hgsc.bcm.edu	37	3	170078913	170078913	+	Missense_Mutation	SNP	A	A	T			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr3:170078913A>T	ENST00000458537.3	+	1	1503	c.794A>T	c.(793-795)gAg>gTg	p.E265V	SKIL_ENST00000259119.4_Missense_Mutation_p.E265V|SKIL_ENST00000413427.2_Missense_Mutation_p.E265V|SKIL_ENST00000426052.2_Missense_Mutation_p.E245V	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	265					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)			TTTGAAGTGGAGCATGAATGC	0.453																																																0													147	129	135					3																	170078913		2203	4300	6503	SO:0001583	missense	6498			X15217	CCDS33890.1, CCDS46953.1, CCDS46954.1	3q26	2014-06-25	2014-06-25		ENSG00000136603	ENSG00000136603		"SKI transcriptional corepressors"	10897	protein-coding gene	gene with protein product		165340	"SKI-like oncogene"			2762147	Standard	NM_005414		Approved	SNO, SnoN, SnoA	uc003fgw.3	P12757	OTTHUMG00000158831	ENST00000458537.3:c.794A>T	chr3.hg19:g.170078913A>T	ENSP00000415243:p.Glu265Val		A6NGT1|B4DT50|O00464|P12756|Q07501	Missense_Mutation	SNP	ENST00000458537.3	hg19	CCDS33890.1	.	.	.	.	.	.	.	.	.	.	A	17.14	3.312956	0.60414	.	.	ENSG00000136603	ENST00000259119;ENST00000426052;ENST00000413427;ENST00000458537	D;D;D;D	0.91464	-2.85;-2.85;-2.83;-2.85	5.51	5.51	0.81932	SAND domain-like (2);c-SKI Smad4-binding (1);	0.221987	0.48286	D	0.000184	D	0.92038	0.7477	L	0.33485	1.01	0.52099	D	0.999943	D;D	0.89917	0.998;1.0	D;D	0.97110	0.969;1.0	D	0.90522	0.4489	10	0.25751	T	0.34	-22.9066	15.6712	0.77279	1.0:0.0:0.0:0.0	.	265;265	P12757-3;P12757	.;SKIL_HUMAN	V	265;245;265;265	ENSP00000259119:E265V;ENSP00000406520:E245V;ENSP00000400193:E265V;ENSP00000415243:E265V	ENSP00000259119:E265V	E	+	2	0	SKIL	171561607	1.000000	0.71417	1.000000	0.80357	0.454000	0.32378	8.962000	0.93254	2.111000	0.64477	0.524000	0.50904	GAG		0.453	SKIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352351.4	NM_005414		T	170078913	A	T	170078913	3	4	664	1	0	0	0	0	1	0	0	0	14364	304	11	5	796	5	SKIL	3	170078913	Missense_Mutation	SNP	A	TCGA-GL-A59R-01A-11D-A26P-10	117572944	170078913	27943517	20	36197											
RUFY3	22902	hgsc.bcm.edu	37	4	71629308	71629308	+	Missense_Mutation	SNP	G	G	A			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr4:71629308G>A	ENST00000226328.4	+	3	955	c.392G>A	c.(391-393)gGg>gAg	p.G131E	RUFY3_ENST00000536664.1_Missense_Mutation_p.G115E|RUFY3_ENST00000381006.3_Missense_Mutation_p.G131E|RUFY3_ENST00000417478.2_Missense_Mutation_p.G191E|RUFY3_ENST00000502653.1_Missense_Mutation_p.G78E	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	131	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				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)			TCCTTCTGGGGGCCTCTAGAA	0.368																																																0													37	41	40					4																	71629308		2195	4298	6493	SO:0001583	missense	22902			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	ENST00000226328.4:c.392G>A	chr4.hg19:g.71629308G>A	ENSP00000226328:p.Gly131Glu		B3KM25|B4DYW7|D9N163|O94948|Q9UI00	Missense_Mutation	SNP	ENST00000226328.4	hg19	CCDS3547.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.907015	0.92107	.	.	ENSG00000018189	ENST00000503876;ENST00000417478;ENST00000381006;ENST00000226328;ENST00000536664;ENST00000513597;ENST00000502653	T;T;T;T;T;T;T	0.11712	2.75;2.75;2.75;2.75;2.75;2.75;2.75	5.13	5.13	0.70059	RUN (2);	0.000000	0.85682	D	0.000000	T	0.32823	0.0842	M	0.64997	1.995	0.80722	D	1	D;P;B;P	0.59767	0.986;0.498;0.397;0.956	D;P;P;D	0.76071	0.987;0.744;0.679;0.95	T	0.02093	-1.1215	10	0.72032	D	0.01	-9.749	18.944	0.92615	0.0:0.0:1.0:0.0	.	115;131;131;191	B4DKC2;Q7L099-3;Q7L099;Q7L099-2	.;.;RUFY3_HUMAN;.	E	67;191;131;131;115;67;78	ENSP00000426734:G67E;ENSP00000399771:G191E;ENSP00000370394:G131E;ENSP00000226328:G131E;ENSP00000443652:G115E;ENSP00000425574:G67E;ENSP00000425400:G78E	ENSP00000226328:G131E	G	+	2	0	RUFY3	71848172	1.000000	0.71417	0.979000	0.43373	0.957000	0.61999	9.744000	0.98853	2.569000	0.86673	0.591000	0.81541	GGG		0.368	RUFY3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252161.2	NM_014961		A	71629308	G	A	71629308	3	1	664	1	0	0	0	0	1	0	0	0	13746	1232	43	2	764	2	RUFY3	4	71629308	Missense_Mutation	SNP	G	TCGA-GL-A59R-01A-11D-A26P-10		71629308	119524968	21	36198											
NSUN2	54888	hgsc.bcm.edu	37	5	6600168	6600168	+	Silent	SNP	G	G	A			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr5:6600168G>A	ENST00000264670.6	-	19	2486	c.2175C>T	c.(2173-2175)acC>acT	p.T725T	NSUN2_ENST00000506139.1_Silent_p.T690T|NSUN2_ENST00000539938.1_Silent_p.T489T	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	725					mitotic nuclear division (GO:0007067)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|tRNA (cytosine-5-)-methyltransferase activity (GO:0016428)|tRNA binding (GO:0000049)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						CTGGCTGTCCGGTGCTGGCTG	0.537																																																0													182	148	160					5																	6600168		2203	4300	6503	SO:0001819	synonymous_variant	54888			AK000310	CCDS3869.1, CCDS54832.1	5p15.32	2014-01-31	2012-06-12		ENSG00000037474	ENSG00000037474		"NOP2/Sun domain containing"	25994	protein-coding gene	gene with protein product	"tRNA methyltransferase 4 homolog (S. cerevisiae)", "Myc-induced SUN-domain-containing protein"	610916	"NOL1/NOP2/Sun domain family, member 2", "NOP2/Sun domain family, member 2", "mental retardation, non-syndromic, autosomal recessive, 5"	MRT5		17071714, 22541559	Standard	NM_017755		Approved	FLJ20303, TRM4, Misu	uc003jdu.3	Q08J23	OTTHUMG00000090455	ENST00000264670.6:c.2175C>T	chr5.hg19:g.6600168G>A			A8K529|B2RNR4|B3KP09|B4DQW2|G3V1R4|Q9BVN4|Q9H858|Q9NXD9	Silent	SNP	ENST00000264670.6	hg19	CCDS3869.1																																																																																				0.537	NSUN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206902.1	NM_017755		A	6600168	G	A	6600168	2	1	664	1	0	0	0	0	0	0	0	1	10680	1103	39	1		1	NSUN2	5	6600168	Silent	SNP	G	TCGA-GL-A59R-01A-11D-A26P-10		6600168	174315092	22	36199											
FASTKD3	79072	hgsc.bcm.edu	37	5	7867451	7867451	+	Missense_Mutation	SNP	T	T	C			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr5:7867451T>C	ENST00000264669.5	-	2	882	c.746A>G	c.(745-747)gAa>gGa	p.E249G	MTRR_ENST00000341013.6_5'Flank|MTRR_ENST00000502509.1_Intron|MTRR_ENST00000264668.2_5'Flank|FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000440940.2_5'Flank	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	249					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						GGTAAATGTTTCCAATTTTTC	0.368																																																0													80	85	83					5																	7867451		2203	4300	6503	SO:0001583	missense	79072			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.746A>G	chr5.hg19:g.7867451T>C	ENSP00000264669:p.Glu249Gly		Q9BVD3	Missense_Mutation	SNP	ENST00000264669.5	hg19	CCDS3873.1	.	.	.	.	.	.	.	.	.	.	T	17.00	3.275390	0.59649	.	.	ENSG00000124279	ENST00000264669	T	0.29142	1.58	4.85	3.65	0.41850	.	0.369914	0.32055	N	0.006643	T	0.31327	0.0793	M	0.72118	2.19	0.23421	N	0.997719	P	0.40144	0.704	B	0.36719	0.231	T	0.14531	-1.0469	10	0.38643	T	0.18	-20.1472	11.6008	0.51001	0.0:0.0:0.1494:0.8506	.	249	Q14CZ7	FAKD3_HUMAN	G	249	ENSP00000264669:E249G	ENSP00000264669:E249G	E	-	2	0	FASTKD3	7920451	0.203000	0.23435	0.094000	0.20943	0.730000	0.41778	2.603000	0.46266	0.835000	0.34877	0.528000	0.53228	GAA		0.368	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253673.1	NM_024091		C	7867451	T	C	7867451	3	2	664	1	0	0	0	0	1	0	0	0	5689	1783	62	3	1266	3	FASTKD3	5	7867451	Missense_Mutation	SNP	T	TCGA-GL-A59R-01A-11D-A26P-10	1267283	7867451	173047809	23	36200											
PCDHB10	56126	hgsc.bcm.edu	37	5	140573409	140573413	+	Frame_Shift_Del	DEL	ACCCA	ACCCA	-			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10	ACCCA	ACCCA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr5:140573409_140573413delACCCA	ENST00000239446.4	+	1	1468_1472	c.1284_1288delACCCA	c.(1282-1290)acacccaggfs	p.PR429fs		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	429	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)			ACTTGGGGACACCCAGGCTGAAAAC	0.532																																																0																																										SO:0001589	frameshift_variant	56126			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.1284_1288delACCCA	chr5.hg19:g.140573409_140573413delACCCA	ENSP00000239446:p.Pro429fs		Q96T99	Frame_Shift_Del	DEL	ENST00000239446.4	hg19	CCDS4252.1																																																																																				0.532	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		-	140573413	ACCCA	-	140573409	7	5	664	1	0	1	0	1	0	0	0	0	11537	146	6	0	1286	0	PCDHB10	5	140573409	Frame_Shift_Del	DEL	ACCCA	TCGA-GL-A59R-01A-11D-A26P-10	132705958	140573409	40341851	24	36201											
DOM3Z	1797	hgsc.bcm.edu	37	6	31938842	31938842	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr6:31938842C>T	ENST00000375349.3	-	3	850	c.439G>A	c.(439-441)Gag>Aag	p.E147K	DXO_ENST00000478221.1_5'UTR|DXO_ENST00000375356.3_Missense_Mutation_p.E147K|STK19_ENST00000375331.2_5'Flank|DXO_ENST00000337523.5_Missense_Mutation_p.E147K|STK19_ENST00000375333.2_5'Flank			O77932	DXO_HUMAN	decapping exoribonuclease	147					metabolic process (GO:0008152)|mRNA catabolic process (GO:0006402)|nuclear mRNA surveillance (GO:0071028)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA destabilization (GO:0050779)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|magnesium ion binding (GO:0000287)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA pyrophosphohydrolase activity (GO:0034353)										TGCCAGCCCTCCTGCCGCTCA	0.642																																																0													81	91	88					6																	31938842		1508	2708	4216	SO:0001583	missense	1797			AF059252	CCDS4732.1	6p21.3	2013-09-11	2013-09-11	2013-09-11	ENSG00000204348	ENSG00000204348			2992	protein-coding gene	gene with protein product		605996	"DOM-3 (C. elegans) homolog Z", "dom-3 homolog Z (C. elegans)"	DOM3Z		9799600, 23523372	Standard	NM_005510		Approved		uc003nyp.1	O77932	OTTHUMG00000031272	ENST00000375349.3:c.439G>A	chr6.hg19:g.31938842C>T	ENSP00000364498:p.Glu147Lys		A2CER3|B0UZ80|O15004|O78127|O78128|Q5ST60|Q6IPZ2|Q9NPK4	Missense_Mutation	SNP	ENST00000375349.3	hg19	CCDS4732.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.568158	0.86439	.	.	ENSG00000204348	ENST00000337523;ENST00000375349;ENST00000375356	T;T;T	0.19532	2.14;2.14;2.14	4.91	4.03	0.46877	.	0.054459	0.64402	D	0.000001	T	0.24547	0.0595	L	0.53249	1.67	0.49483	D	0.999795	P;D	0.76494	0.951;0.999	P;P	0.62298	0.487;0.9	T	0.01591	-1.1317	10	0.29301	T	0.29	-10.6299	14.2192	0.65815	0.0:0.849:0.151:0.0	.	147;147	F8WC68;O77932	.;DOM3Z_HUMAN	K	147	ENSP00000337759:E147K;ENSP00000364498:E147K;ENSP00000364505:E147K	ENSP00000337759:E147K	E	-	1	0	DOM3Z	32046821	1.000000	0.71417	0.983000	0.44433	0.793000	0.44817	7.160000	0.77495	1.266000	0.44231	-0.305000	0.09177	GAG		0.642	DXO-006	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076592.3			T	31938842	C	T	31938842	3	4	664	1	0	0	0	0	1	0	0	0	4707	864	30	2	771	2	DOM3Z	6	31938842	Missense_Mutation	SNP	C	TCGA-GL-A59R-01A-11D-A26P-10		31938842	139176225	25	36202											
PGK2	5232	hgsc.bcm.edu	37	6	49753793	49753793	+	Missense_Mutation	SNP	C	C	G			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr6:49753793C>G	ENST00000304801.3	-	1	1260	c.1108G>C	c.(1108-1110)Gtt>Ctt	p.V370L		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	370					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)					CCCCCTATAACAGTGATGCAG	0.498																																																0													155	152	153					6																	49753793		2203	4300	6503	SO:0001583	missense	5232			K03019	CCDS4930.1	6p12.3	2012-09-20		2002-04-19	ENSG00000170950	ENSG00000170950			8898	protein-coding gene	gene with protein product		172270				3839763, 3453121	Standard	NM_138733		Approved	PGKPS, PGK-2	uc003ozu.3	P07205	OTTHUMG00000014824	ENST00000304801.3:c.1108G>C	chr6.hg19:g.49753793C>G	ENSP00000305995:p.Val370Leu		B2R6Y8|Q9H107	Missense_Mutation	SNP	ENST00000304801.3	hg19	CCDS4930.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.243598	0.39697	.	.	ENSG00000170950	ENST00000304801	D	0.93712	-3.27	4.81	2.39	0.29439	Phosphoglycerate kinase, C-terminal (1);	0.100392	0.64402	D	0.000003	D	0.84347	0.5452	L	0.56199	1.76	0.22719	N	0.998819	B	0.14805	0.011	B	0.28553	0.091	T	0.79105	-0.1940	10	0.87932	D	0	-12.902	7.2513	0.26150	0.0:0.2024:0.0:0.7976	.	370	P07205	PGK2_HUMAN	L	370	ENSP00000305995:V370L	ENSP00000305995:V370L	V	-	1	0	PGK2	49861752	1.000000	0.71417	0.998000	0.56505	0.921000	0.55340	3.605000	0.54088	0.407000	0.25591	-0.295000	0.09555	GTT		0.498	PGK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040872.1			G	49753793	C	G	49753793	3	3	664	1	0	0	0	0	1	0	0	0	11793	478	17	4	149	4	PGK2	6	49753793	Missense_Mutation	SNP	C	TCGA-GL-A59R-01A-11D-A26P-10	17814951	49753793	121361274	26	36203											
TRAF3IP2	10758	hgsc.bcm.edu	37	6	111912891	111912891	+	Frame_Shift_Del	DEL	A	A	-			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr6:111912891delA	ENST00000340026.6	-	3	1020	c.426delT	c.(424-426)tttfs	p.F142fs	TRAF3IP2_ENST00000368761.5_Frame_Shift_Del_p.F133fs|TRAF3IP2_ENST00000392556.4_5'UTR|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000359831.4_Frame_Shift_Del_p.F133fs			O43734	CIKS_HUMAN	TRAF3 interacting protein 2	142	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)		GTTTTTCCATAAATGAAAACT	0.512																																																0													51	50	50					6																	111912891		2203	4300	6503	SO:0001589	frameshift_variant	10758			AF136405	CCDS5093.1, CCDS55049.1, CCDS55050.1	6q21	2008-09-05	2002-06-20	2005-04-13	ENSG00000056972	ENSG00000056972			1343	protein-coding gene	gene with protein product		607043	"chromosome 6 open reading frame 5", "chromosome 6 open reading frame 2"	C6orf4, C6orf5, C6orf6, C6orf2		10962033, 10962024	Standard	NR_028338		Approved	DKFZP586G0522, ACT1, CIKS	uc003pvf.4	O43734	OTTHUMG00000015379	ENST00000340026.6:c.426delT	chr6.hg19:g.111912891delA	ENSP00000345984:p.Phe142fs		B2RAY9|E1P555|Q5R3A3|Q7Z6Q1|Q7Z6Q2|Q7Z6Q3|Q9H5W2|Q9H6Y3|Q9NS14|Q9UG72	Frame_Shift_Del	DEL	ENST00000340026.6	hg19																																																																																					0.512	TRAF3IP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000041841.2			-	111912891	A	-	111912891	7	5	664	1	0	1	0	1	0	0	0	0	16446	359	13	0	1330	0	TRAF3IP2	6	111912891	Frame_Shift_Del	DEL	A	TCGA-GL-A59R-01A-11D-A26P-10	62159098	111912891	59202176	27	36204											
GIGYF1	64599	hgsc.bcm.edu	37	7	100279805	100279805	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr7:100279805C>T	ENST00000275732.5	-	22	4024	c.2815G>A	c.(2815-2817)Gat>Aat	p.D939N	GIGYF1_ENST00000471340.2_5'Flank	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	939					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)					CGGATATAATCGTGGACATCA	0.597																																																0													74	79	77					7																	100279805		2203	4300	6503	SO:0001583	missense	64599			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.2815G>A	chr7.hg19:g.100279805C>T	ENSP00000275732:p.Asp939Asn		Q6Y7W7|Q8WZ38	Missense_Mutation	SNP	ENST00000275732.5	hg19	CCDS34708.1	.	.	.	.	.	.	.	.	.	.	.	17.25	3.341351	0.60963	.	.	ENSG00000146830	ENST00000539430;ENST00000275732	D	0.84223	-1.82	5.14	5.14	0.70334	.	0.053328	0.64402	D	0.000001	T	0.78748	0.4332	L	0.59912	1.85	0.51482	D	0.999924	P	0.47409	0.895	B	0.25506	0.061	D	0.83414	0.0029	10	0.59425	D	0.04	-21.0708	16.146	0.81569	0.0:1.0:0.0:0.0	.	939	O75420	PERQ1_HUMAN	N	658;939	ENSP00000275732:D939N	ENSP00000275732:D939N	D	-	1	0	GIGYF1	100117741	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	4.780000	0.62382	2.672000	0.90937	0.555000	0.69702	GAT		0.597	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574		T	100279805	C	T	100279805	3	4	664	1	0	0	0	0	1	0	0	0	6379	884	31	1	304	1	GIGYF1	7	100279805	Missense_Mutation	SNP	C	TCGA-GL-A59R-01A-11D-A26P-10		100279805	58858858	28	36205											
FOXP2	93986	hgsc.bcm.edu	37	7	114302186	114302186	+	Missense_Mutation	SNP	G	G	A			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr7:114302186G>A	ENST00000393494.2	+	14	1993	c.1714G>A	c.(1714-1716)Gta>Ata	p.V572I	FOXP2_ENST00000393498.2_Missense_Mutation_p.V551I|FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000408937.3_Missense_Mutation_p.V597I|FOXP2_ENST00000350908.4_Missense_Mutation_p.V572I|FOXP2_ENST00000393489.3_Missense_Mutation_p.V480I|FOXP2_ENST00000403559.4_Missense_Mutation_p.V589I|FOXP2_ENST00000393491.3_Missense_Mutation_p.V387I			O15409	FOXP2_HUMAN	forkhead box P2	572					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						TAAAGGAGCAGTATGGACTGT	0.393																																																0													139	129	133					7																	114302186		2203	4300	6503	SO:0001583	missense	93986			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.1714G>A	chr7.hg19:g.114302186G>A	ENSP00000377132:p.Val572Ile		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Missense_Mutation	SNP	ENST00000393494.2	hg19	CCDS5760.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.967741	0.74131	.	.	ENSG00000128573	ENST00000393494;ENST00000408937;ENST00000403559;ENST00000350908;ENST00000393498;ENST00000393489;ENST00000393491	D;D;D;D;D;D	0.95447	-3.71;-3.71;-3.71;-3.71;-3.71;-3.71	5.65	5.65	0.86999	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	D	0.000000	D	0.97692	0.9243	M	0.76838	2.35	0.80722	D	1	P;P;D;P;P	0.67145	0.92;0.92;0.996;0.92;0.902	D;D;D;D;D	0.70227	0.935;0.956;0.968;0.935;0.927	D	0.97929	1.0319	10	0.87932	D	0	.	20.0965	0.97849	0.0:0.0:1.0:0.0	.	571;589;387;572;597	B7ZLK5;B4DLD9;Q0PRL4;O15409;O15409-4	.;.;.;FOXP2_HUMAN;.	I	572;597;589;572;549;480;387	ENSP00000377132:V572I;ENSP00000386200:V597I;ENSP00000385069:V589I;ENSP00000265436:V572I;ENSP00000377129:V480I;ENSP00000377130:V387I	ENSP00000265436:V572I	V	+	1	0	FOXP2	114089422	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	9.813000	0.99286	2.824000	0.97209	0.655000	0.94253	GTA		0.393	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		A	114302186	G	A	114302186	3	1	664	1	0	0	0	0	1	0	0	0	6029	1029	36	2	1931	2	FOXP2	7	114302186	Missense_Mutation	SNP	G	TCGA-GL-A59R-01A-11D-A26P-10	14022381	114302186	44836477	29	36206											
MET	4233	hgsc.bcm.edu	37	7	116415114	116415115	+	Missense_Mutation	DNP	GT	GT	AG			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10	G|T	G|T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr7:116415114_116415115GT>AG	ENST00000318493.6	+	15	3449_3450	c.3262_3263GT>AG	c.(3262-3264)GTg>AGg	p.V1088R	MET_ENST00000397752.3_Missense_Mutation_p.V1070R|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)	p.V1088E(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)			GCAGCATGTAGTGATTGGGCCC	0.431			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																														Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	1	Substitution - Missense(1)	kidney(1)																																								SO:0001583	missense	4233	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	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	Exception_encountered	chr7.hg19:g.116415114_116415115delinsAG	ENSP00000317272:p.Val1088Arg		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	hg19	CCDS47689.1																																																																																				0.431	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			AG	116415115	GT	AG	116415114	3	1	664	1	0	0	0	0	1	0	0	0	9487	1029	36	2	3316	2	MET	7	116415114	Missense_Mutation	DNP	GT	TCGA-GL-A59R-01A-11D-A26P-10	2112928	116415114	42723549	30	36207											
AASS	10157	hgsc.bcm.edu	37	7	121717970	121717971	+	Missense_Mutation	DNP	CA	CA	AG			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10	C|A	C|A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr7:121717970_121717971CA>AG	ENST00000393376.1	-	22	2678_2679	c.2583_2584TG>CT	c.(2581-2586)taTGgg>taCTgg	p.G862W	AASS_ENST00000473553.1_5'UTR|AASS_ENST00000417368.2_Missense_Mutation_p.G862W			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	862	Saccharopine dehydrogenase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						TTGATGTCCCCATAAGCCACAA	0.436																																																0																																										SO:0001583	missense	10157			AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.2583_2584delinsAG	chr7.hg19:g.121717970_121717971delinsAG	ENSP00000377040:p.Gly862Trp		O95462	Missense_Mutation|Silent	SNP	ENST00000393376.1	hg19	CCDS5783.1																																																																																				0.436	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763		AG	121717971	CA	AG	121717970	3	1	664	1	0	0	0	0	1	0	0	0	24	594	21	4	204	4	AASS	7	121717970	Missense_Mutation	DNP	CA	TCGA-GL-A59R-01A-11D-A26P-10	5302856	121717970	37420693	31	36208											
KIAA1549	57670	hgsc.bcm.edu	37	7	138566237	138566237	+	Missense_Mutation	SNP	G	G	T			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr7:138566237G>T	ENST00000422774.1	-	11	4174	c.4126C>A	c.(4126-4128)Cca>Aca	p.P1376T	KIAA1549_ENST00000242365.4_Missense_Mutation_p.P1326T|KIAA1549_ENST00000440172.1_Missense_Mutation_p.P1376T			Q9HCM3	K1549_HUMAN	KIAA1549	1376						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CCTGGCAGTGGCGCTGGCTCA	0.512			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)		Dom	yes		7	7q34	57670	KIAA1549		O	0													115	121	119					7																	138566237		2083	4214	6297	SO:0001583	missense	57670				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.4126C>A	chr7.hg19:g.138566237G>T	ENSP00000416040:p.Pro1376Thr		B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	hg19	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.101871	0.76983	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.25912	1.77;1.77;1.79	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.51227	0.1662	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	0.97110	1.0;0.999;1.0;0.999	T	0.38067	-0.9678	10	0.41790	T	0.15	.	18.5236	0.90963	0.0:0.0:1.0:0.0	.	1376;160;1376;160	Q9HCM3;Q9HCM3-4;Q9HCM3-2;Q9HCM3-3	K1549_HUMAN;.;.;.	T	1376;1326;1376	ENSP00000406661:P1376T;ENSP00000242365:P1326T;ENSP00000416040:P1376T	ENSP00000242365:P1326T	P	-	1	0	KIAA1549	138216777	1.000000	0.71417	0.686000	0.30086	0.849000	0.48306	7.124000	0.77185	2.716000	0.92895	0.655000	0.94253	CCA		0.512	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			T	138566237	G	T	138566237	3	4	664	1	0	0	0	0	1	0	0	0	8246	1203	42	4	1766	4	KIAA1549	7	138566237	Missense_Mutation	SNP	G	TCGA-GL-A59R-01A-11D-A26P-10	16848267	138566237	20572426	32	36209											
ANK1	286	hgsc.bcm.edu	37	8	41547822	41547822	+	Silent	SNP	G	G	A			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr8:41547822G>A	ENST00000347528.4	-	33	4110	c.4027C>T	c.(4027-4029)Ctg>Ttg	p.L1343L	ANK1_ENST00000265709.8_Silent_p.L1384L|ANK1_ENST00000289734.7_Silent_p.L1343L|ANK1_ENST00000396942.1_Silent_p.L1343L|ANK1_ENST00000396945.1_Silent_p.L1343L|ANK1_ENST00000352337.4_Silent_p.L1343L|ANK1_ENST00000379758.2_Silent_p.L1343L	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1343	UPA domain. {ECO:0000250}.				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)			GCCTTGCGCAGAAACGACAGG	0.597																																																0													133	112	119					8																	41547822		2203	4300	6503	SO:0001819	synonymous_variant	286			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.4027C>T	chr8.hg19:g.41547822G>A			A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Silent	SNP	ENST00000347528.4	hg19	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	G	8.890	0.953747	0.18431	.	.	ENSG00000029534	ENST00000520299	.	.	.	5.08	4.2	0.49525	.	.	.	.	.	T	0.55210	0.1906	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52734	-0.8536	4	.	.	.	.	6.0089	0.19562	0.1621:0.0:0.6843:0.1536	.	.	.	.	F	664	.	.	S	-	2	0	ANK1	41666979	1.000000	0.71417	0.884000	0.34674	0.838000	0.47535	1.678000	0.37586	1.352000	0.45808	0.563000	0.77884	TCT		0.597	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		A	41547822	G	A	41547822	2	1	664	1	0	0	0	0	0	0	0	1	620	933	33	2		2	ANK1	8	41547822	Silent	SNP	G	TCGA-GL-A59R-01A-11D-A26P-10		41547822	104816200	33	36210											
ZBTB10	65986	hgsc.bcm.edu	37	8	81412103	81412103	+	Silent	SNP	T	T	C			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr8:81412103T>C	ENST00000430430.1	+	3	2126	c.1347T>C	c.(1345-1347)agT>agC	p.S449S	ZBTB10_ENST00000455036.3_Silent_p.S449S|ZBTB10_ENST00000426744.2_Silent_p.S449S|ZBTB10_ENST00000379091.4_Silent_p.S157S	NM_001277145.1	NP_001264074.1	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10	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)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			TTCAAATGAGTGAAGTTGTTC	0.373																																																0													88	81	83					8																	81412103		1826	4092	5918	SO:0001819	synonymous_variant	65986			AK022814	CCDS47880.1, CCDS64920.1	8q13-q21.1	2013-01-09			ENSG00000205189	ENSG00000205189		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	30953	protein-coding gene	gene with protein product						12477932	Standard	NM_001105539		Approved	RINZF, FLJ12752	uc003ybx.5	Q96DT7	OTTHUMG00000155016	ENST00000430430.1:c.1347T>C	chr8.hg19:g.81412103T>C			A4FVD0|Q86W96|Q8IXI9|Q96MH9	Silent	SNP	ENST00000430430.1	hg19	CCDS47880.1																																																																																				0.373	ZBTB10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338055.2	NM_023929		C	81412103	T	C	81412103	2	2	664	1	0	0	0	0	0	0	0	1	17528	1693	59	3		3	ZBTB10	8	81412103	Silent	SNP	T	TCGA-GL-A59R-01A-11D-A26P-10	39864281	81412103	64951919	34	36211											
WWP1	11059	hgsc.bcm.edu	37	8	87447714	87447715	+	Frame_Shift_Ins	INS	-	-	AATTTTT	rs139712565		TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr8:87447714_87447715insAATTTTT	ENST00000517970.1	+	15	1942_1943	c.1635_1636insAATTTTT	c.(1636-1638)ggcfs	p.G546fs	WWP1_ENST00000341922.2_Frame_Shift_Ins_p.G416fs|WWP1_ENST00000265428.4_Frame_Shift_Ins_p.G546fs|WWP1_ENST00000349423.2_Frame_Shift_Ins_p.G328fs	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	546					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						CTTATGAACGCGGCTTTAGGTG	0.302																																																0																																										SO:0001589	frameshift_variant	11059			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	Exception_encountered	chr8.hg19:g.87447714_87447715insAATTTTT	ENSP00000427793:p.Gly546fs		O00307|Q5YLC1|Q96BP4	Frame_Shift_Ins	INS	ENST00000517970.1	hg19	CCDS6242.1																																																																																				0.302	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374755.1	NM_007013		AATTTTT	87447715	-	AATTTTT	87447714	7	5	664	1	0	1	1	0	0	0	0	0	17420	755	27	0	1685	0	WWP1	8	87447714	Frame_Shift_Ins	INS	-	TCGA-GL-A59R-01A-11D-A26P-10	6035611	87447714	58916308	35	36212	268	2									
WWP1	11059	hgsc.bcm.edu	37	8	87447715	87447715	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr8:87447715delG	ENST00000517970.1	+	15	1943	c.1636delG	c.(1636-1638)ggcfs	p.G546fs	WWP1_ENST00000341922.2_Frame_Shift_Del_p.G416fs|WWP1_ENST00000265428.4_Frame_Shift_Del_p.G546fs|WWP1_ENST00000349423.2_Frame_Shift_Del_p.G328fs	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	546					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						TTATGAACGCGGCTTTAGGTG	0.303																																																0													90	91	91					8																	87447715		2203	4300	6503	SO:0001589	frameshift_variant	11059			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.1636delG	chr8.hg19:g.87447715delG	ENSP00000427793:p.Gly546fs		O00307|Q5YLC1|Q96BP4	Frame_Shift_Del	DEL	ENST00000517970.1	hg19	CCDS6242.1																																																																																				0.303	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374755.1	NM_007013		-	87447715	G	-	87447715	7	5	664	1	0	1	0	1	0	0	0	0	17420	1116	39	0	1686	0	WWP1	8	87447715	Frame_Shift_Del	DEL	G	TCGA-GL-A59R-01A-11D-A26P-10	1	87447715	58916307	36	36213	268	2									
JAK2	3717	hgsc.bcm.edu	37	9	5078361	5078361	+	Missense_Mutation	SNP	G	G	T			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr9:5078361G>T	ENST00000381652.3	+	16	2542	c.2048G>T	c.(2047-2049)aGa>aTa	p.R683I	JAK2_ENST00000539801.1_Missense_Mutation_p.R683I|JAK2_ENST00000544510.1_Missense_Mutation_p.R534I|AL161450.1_ENST00000601793.1_Intron	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	683	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|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 activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)	p.R683T(2)|p.I682_R683insTG(1)|p.R683K(1)|p.I682_D686>(1)	BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	CTGCTTATCAGAGAAGAAGAC	0.363		1	"T, Mis, O"	"ETV6, PCM1, BCR"	"ALL, AML, MPD,  CML"				Polycythemia Vera, Familial																														Dom	yes		9	9p24	3717	Janus kinase 2		L	5	Substitution - Missense(3)|Insertion - In frame(1)|Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(5)											149	163	158					9																	5078361		2203	4300	6503	SO:0001583	missense	3717	Familial Cancer Database			CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"SH2 domain containing"	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.2048G>T	chr9.hg19:g.5078361G>T	ENSP00000371067:p.Arg683Ile		O14636|O75297	Missense_Mutation	SNP	ENST00000381652.3	hg19	CCDS6457.1	.	.	.	.	.	.	.	.	.	.	G	32	5.158488	0.94686	.	.	ENSG00000096968	ENST00000539801;ENST00000381652;ENST00000544510	D;D;D	0.83163	-1.69;-1.69;-1.69	5.55	5.55	0.83447	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	0.92381	0.7582	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92930	0.6363	10	0.87932	D	0	-24.9121	19.4912	0.95050	0.0:0.0:1.0:0.0	.	683	O60674	JAK2_HUMAN	I	683;683;534	ENSP00000440387:R683I;ENSP00000371067:R683I;ENSP00000443103:R534I	ENSP00000371067:R683I	R	+	2	0	JAK2	5068361	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.371000	0.97162	2.771000	0.95319	0.561000	0.74099	AGA		0.363	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1			T	5078361	G	T	5078361	3	4	664	1	0	0	0	0	1	0	0	0	7940	942	33	4	2102	4	JAK2	9	5078361	Missense_Mutation	SNP	G	TCGA-GL-A59R-01A-11D-A26P-10		5078361	136135070	37	36214											
DDX58	23586	hgsc.bcm.edu	37	9	32459420	32459420	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr9:32459420G>T	ENST00000379883.2	-	17	2587	c.2430C>A	c.(2428-2430)tgC>tgA	p.C810*	DDX58_ENST00000379882.1_Nonsense_Mutation_p.C765*|DDX58_ENST00000542096.1_Nonsense_Mutation_p.C739*|DDX58_ENST00000379868.1_Nonsense_Mutation_p.C607*	NM_014314.3	NP_055129.2	O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	810	Interaction with ZC3HAV1.|Repressor domain.				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 defense response to virus by host (GO:0002230)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|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)|regulation of cell migration (GO:0030334)|regulation of type III interferon production (GO:0034344)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RIG-I signaling pathway (GO:0039529)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|identical protein binding (GO:0042802)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		TGCACTTTCTGCAGAGCAGTT	0.388																																																0													184	166	172					9																	32459420		2203	4300	6503	SO:0001587	stop_gained	23586			AF038963	CCDS6526.1	9p12	2011-08-05			ENSG00000107201	ENSG00000107201		"DEAD-boxes"	19102	protein-coding gene	gene with protein product	"RNA helicase RIG-I", "retinoic acid inducible gene I"	609631				21690088	Standard	NM_014314		Approved	RIG-I, FLJ13599, DKFZp434J1111	uc003zra.3	O95786	OTTHUMG00000019746	ENST00000379883.2:c.2430C>A	chr9.hg19:g.32459420G>T	ENSP00000369213:p.Cys810*		A2RU81|Q5HYE1|Q5VYT1|Q9NT04	Nonsense_Mutation	SNP	ENST00000379883.2	hg19	CCDS6526.1	.	.	.	.	.	.	.	.	.	.	G	38	7.254024	0.98168	.	.	ENSG00000107201	ENST00000379882;ENST00000379883;ENST00000379868;ENST00000542096	.	.	.	4.79	-0.4	0.12411	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.0038	9.3509	0.38138	0.719:0.0:0.281:0.0	.	.	.	.	X	765;810;607;739	.	ENSP00000369197:C607X	C	-	3	2	DDX58	32449420	0.540000	0.26410	0.928000	0.36995	0.005000	0.04900	0.443000	0.21644	0.069000	0.16605	0.655000	0.94253	TGC		0.388	DDX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052011.1	NM_014314		T	32459420	G	T	32459420	4	4	664	1	0	0	0	0	0	1	0	0	4377	1311	46	4	355	4	DDX58	9	32459420	Nonsense_Mutation	SNP	G	TCGA-GL-A59R-01A-11D-A26P-10	27381059	32459420	108754011	38	36215											
VPS13A	23230	hgsc.bcm.edu	37	9	79820297	79820297	+	Missense_Mutation	SNP	A	A	G			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr9:79820297A>G	ENST00000360280.3	+	4	516	c.256A>G	c.(256-258)Att>Gtt	p.I86V	VPS13A_ENST00000376636.3_Missense_Mutation_p.I86V|VPS13A_ENST00000357409.5_Missense_Mutation_p.I86V|VPS13A_ENST00000376634.4_Missense_Mutation_p.I86V	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	86					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						ATTGGAAGAAATTTATTTACT	0.229																																																0													38	44	42					9																	79820297		2194	4279	6473	SO:0001583	missense	23230			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"chorein"	605978	"chorea acanthocytosis", "vacuolar protein sorting 13A (yeast)"	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.256A>G	chr9.hg19:g.79820297A>G	ENSP00000353422:p.Ile86Val		Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	hg19	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	A	8.130	0.782854	0.16189	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36	5.62	4.48	0.54585	.	0.063343	0.64402	D	0.000008	T	0.55593	0.1930	N	0.04880	-0.145	0.80722	D	1	B;B;B;B	0.24882	0.012;0.113;0.046;0.046	B;B;B;B	0.25614	0.018;0.062;0.027;0.027	T	0.51980	-0.8636	10	0.02654	T	1	.	7.951	0.30014	0.7743:0.0:0.2257:0.0	.	86;86;86;86	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	V	86	ENSP00000365821:I86V;ENSP00000365823:I86V;ENSP00000353422:I86V;ENSP00000349985:I86V	ENSP00000349985:I86V	I	+	1	0	VPS13A	79010117	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	4.485000	0.60279	0.952000	0.37798	0.477000	0.44152	ATT		0.229	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		G	79820297	A	G	79820297	3	3	664	1	0	0	0	0	1	0	0	0	17194	101	4	3	270	3	VPS13A	9	79820297	Missense_Mutation	SNP	A	TCGA-GL-A59R-01A-11D-A26P-10	47360877	79820297	61393134	39	36216											
CTSL2	1515	hgsc.bcm.edu	37	9	99799669	99799669	+	Missense_Mutation	SNP	T	T	G			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr9:99799669T>G	ENST00000259470.5	-	4	510	c.261A>C	c.(259-261)gaA>gaC	p.E87D	CTSV_ENST00000479932.1_5'UTR|CTSV_ENST00000538255.1_Missense_Mutation_p.E87D	NM_001333.3	NP_001324.2	O60911	CATL2_HUMAN	cathepsin V	87					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)										TCTGCCTGAATTCTTCATTGG	0.418																																																0													100	100	100					9																	99799669		2203	4300	6503	SO:0001583	missense	1515			Y14734	CCDS6723.1	9q22.33	2013-06-27	2013-06-27	2013-06-27	ENSG00000136943	ENSG00000136943		"Cathepsins"	2538	protein-coding gene	gene with protein product		603308	"cathepsin L2"	CTSL2		9563472, 10029531	Standard	NM_001201575		Approved	CTSU	uc004awt.3	O60911	OTTHUMG00000020314	ENST00000259470.5:c.261A>C	chr9.hg19:g.99799669T>G	ENSP00000259470:p.Glu87Asp		O60233|Q2TB86|Q5T1U0	Missense_Mutation	SNP	ENST00000259470.5	hg19	CCDS6723.1	.	.	.	.	.	.	.	.	.	.	T	19.18	3.776996	0.70107	.	.	ENSG00000136943	ENST00000259470;ENST00000538255	D;D	0.94092	-3.35;-3.35	3.81	2.68	0.31781	Proteinase inhibitor I29, cathepsin propeptide (2);	0.000000	0.85682	D	0.000000	D	0.97356	0.9135	H	0.97365	3.99	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96055	0.9034	9	.	.	.	.	7.4637	0.27310	0.0:0.1067:0.0:0.8933	.	87;87	B2R717;O60911	.;CATL2_HUMAN	D	87	ENSP00000259470:E87D;ENSP00000445052:E87D	.	E	-	3	2	CTSL2	98839490	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	0.938000	0.28965	0.848000	0.35191	0.459000	0.35465	GAA		0.418	CTSV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053301.2	NM_001333		G	99799669	T	G	99799669	3	3	664	1	0	0	0	0	1	0	0	0	4041	1490	52	5	763	5	CTSL2	9	99799669	Missense_Mutation	SNP	T	TCGA-GL-A59R-01A-11D-A26P-10	19979372	99799669	41413762	40	36217											
DHTKD1	55526	hgsc.bcm.edu	37	10	12162862	12162863	+	Frame_Shift_Ins	INS	-	-	T			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr10:12162862_12162863insT	ENST00000263035.4	+	17	2797_2798	c.2735_2736insT	c.(2734-2739)gatatcfs	p.I913fs		NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	913					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)			CAGCATGAAGATATCCTCGCCA	0.5																																																0																																										SO:0001589	frameshift_variant	55526			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.2736dupT	chr10.hg19:g.12162863_12162863dupT	ENSP00000263035:p.Ile913fs		Q68CU5|Q9BUM8|Q9HCE2	Frame_Shift_Ins	INS	ENST00000263035.4	hg19	CCDS7087.1																																																																																				0.5	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1	NM_018706		T	12162863	-	T	12162862	7	5	664	1	0	1	1	0	0	0	0	0	4502	333	12	0	2801	0	DHTKD1	10	12162862	Frame_Shift_Ins	INS	-	TCGA-GL-A59R-01A-11D-A26P-10		12162862	123371885	41	36218											
JMJD1C	221037	hgsc.bcm.edu	37	10	64968540	64968540	+	Silent	SNP	A	A	G			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr10:64968540A>G	ENST00000399262.2	-	10	3107	c.2889T>C	c.(2887-2889)ttT>ttC	p.F963F	JMJD1C_ENST00000399251.1_Silent_p.F744F|JMJD1C_ENST00000542921.1_Silent_p.F781F|JMJD1C_ENST00000402544.1_Silent_p.F744F	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	963					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)					ATGGTTCCATAAAAGCTTTTC	0.348																																																0													49	45	46					10																	64968540		1815	4081	5896	SO:0001819	synonymous_variant	221037			L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"thyroid hormone receptor interactor 8"	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.2889T>C	chr10.hg19:g.64968540A>G			A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Silent	SNP	ENST00000399262.2	hg19	CCDS41532.1																																																																																				0.348	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		G	64968540	A	G	64968540	2	3	664	1	0	0	0	0	0	0	0	1	7952	359	13	3		3	JMJD1C	10	64968540	Silent	SNP	A	TCGA-GL-A59R-01A-11D-A26P-10	52805678	64968540	70566207	42	36219											
P4HA1	5033	hgsc.bcm.edu	37	10	74810906	74810906	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr10:74810906G>A	ENST00000307116.2	-	7	921	c.805C>T	c.(805-807)Cag>Tag	p.Q269*	P4HA1_ENST00000394890.2_Nonsense_Mutation_p.Q269*|P4HA1_ENST00000440381.1_Nonsense_Mutation_p.Q269*|P4HA1_ENST00000373008.2_Nonsense_Mutation_p.Q269*|P4HA1_ENST00000412021.2_Nonsense_Mutation_p.Q269*|P4HA1_ENST00000263556.3_Nonsense_Mutation_p.Q269*			P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	269					collagen fibril organization (GO:0030199)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|procollagen-proline 4-dioxygenase complex (GO:0016222)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GTAGTTTTCTGATCAGATTGG	0.388																																					Colon(147;367 2405 2662 52127)											0													217	213	214					10																	74810906		2203	4300	6503	SO:0001587	stop_gained	5033				CCDS7320.1, CCDS41537.1, CCDS44432.1	10q21.3-q23.1	2008-12-09	2008-12-09		ENSG00000122884	ENSG00000122884	1.14.11.2		8546	protein-coding gene	gene with protein product	"collagen prolyl 4-hydroxylase alpha(I)"	176710	"procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide I"	P4HA		2556027	Standard	NM_001017962		Approved	C-P4Halpha(I)	uc001jtg.3	P13674	OTTHUMG00000018449	ENST00000307116.2:c.805C>T	chr10.hg19:g.74810906G>A	ENSP00000307318:p.Gln269*		C9JL12|Q15082|Q15083|Q5VSQ5	Nonsense_Mutation	SNP	ENST00000307116.2	hg19		.	.	.	.	.	.	.	.	.	.	G	38	6.748289	0.97809	.	.	ENSG00000122884	ENST00000307116;ENST00000373008;ENST00000412021;ENST00000394890;ENST00000263556;ENST00000440381	.	.	.	5.67	4.75	0.60458	.	0.628969	0.17058	N	0.188667	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-9.1782	14.0861	0.64957	0.0:0.0:0.6736:0.3264	.	.	.	.	X	269	.	ENSP00000263556:Q269X	Q	-	1	0	P4HA1	74480912	0.668000	0.27493	1.000000	0.80357	0.995000	0.86356	0.893000	0.28336	1.363000	0.46019	0.557000	0.71058	CAG		0.388	P4HA1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000048601.1	NM_000917		A	74810906	G	A	74810906	4	1	664	1	0	0	0	0	0	1	0	0	11358	1299	45	2	910	2	P4HA1	10	74810906	Nonsense_Mutation	SNP	G	TCGA-GL-A59R-01A-11D-A26P-10	9842366	74810906	60723841	43	36220											
FAM35A	54537	hgsc.bcm.edu	37	10	88911776	88911776	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr10:88911776C>G	ENST00000298784.1	+	3	779	c.665C>G	c.(664-666)tCa>tGa	p.S222*	RN7SL733P_ENST00000582253.1_RNA|FAM35A_ENST00000298786.4_Nonsense_Mutation_p.S222*	NM_019054.2	NP_061927.2	Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	222										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						GTAGATAAGTCAAGGTCTGAA	0.398																																					Ovarian(175;703 2004 25460 32514 43441)											0													34	35	35					10																	88911776		2197	4290	6487	SO:0001587	stop_gained	54537			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.665C>G	chr10.hg19:g.88911776C>G	ENSP00000298784:p.Ser222*		O95885|Q9H991	Nonsense_Mutation	SNP	ENST00000298784.1	hg19	CCDS7383.1	.	.	.	.	.	.	.	.	.	.	c	26.2	4.712906	0.89112	.	.	ENSG00000122376	ENST00000298786;ENST00000298784;ENST00000358313	.	.	.	4.09	4.09	0.47781	.	0.374206	0.21967	N	0.066511	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-1.042	14.7247	0.69336	0.0:1.0:0.0:0.0	.	.	.	.	X	222	.	ENSP00000298784:S222X	S	+	2	0	FAM35A	88901756	0.031000	0.19500	0.008000	0.14137	0.139000	0.21198	3.315000	0.51951	2.134000	0.65973	0.537000	0.68136	TCA		0.398	FAM35A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049196.2	NM_019054		G	88911776	C	G	88911776	4	3	664	1	0	0	0	0	0	1	0	0	5555	838	29	4	667	4	FAM35A	10	88911776	Nonsense_Mutation	SNP	C	TCGA-GL-A59R-01A-11D-A26P-10	14100870	88911776	46622971	44	36221											
TDRD1	56165	hgsc.bcm.edu	37	10	115947630	115947635	+	In_Frame_Del	DEL	AATTTG	AATTTG	-			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10	AATTTG	AATTTG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr10:115947630_115947635delAATTTG	ENST00000369280.1	+	2	500_505	c.40_45delAATTTG	c.(40-45)aatttgdel	p.NL14del	TDRD1_ENST00000369282.1_In_Frame_Del_p.NL14del|TDRD1_ENST00000369281.2_In_Frame_Del_p.NL14del|TDRD1_ENST00000422662.1_5'UTR|TDRD1_ENST00000251864.2_In_Frame_Del_p.NL14del			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	14					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)		GTCAAGAAATAATTTGGAAGCACCTC	0.345																																																0																																										SO:0001651	inframe_deletion	56165			AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"Tudor domain containing"	11712	protein-coding gene	gene with protein product	"cancer/testis antigen 41.1"	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.40_45delAATTTG	chr10.hg19:g.115947630_115947635delAATTTG	ENSP00000358286:p.Asn14_Leu15del		A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	In_Frame_Del	DEL	ENST00000369280.1	hg19																																																																																					0.345	TDRD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050457.2			-	115947635	AATTTG	-	115947630	7	5	664	1	0	1	0	1	0	0	0	0	15735	362	13	0	42	0	TDRD1	10	115947630	In_Frame_Del	DEL	AATTTG	TCGA-GL-A59R-01A-11D-A26P-10	27035854	115947630	19587117	45	36222											
ACCSL	390110	hgsc.bcm.edu	37	11	44079985	44079985	+	Silent	SNP	C	C	T			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr11:44079985C>T	ENST00000378832.1	+	12	1502	c.1446C>T	c.(1444-1446)ctC>ctT	p.L482L		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	482					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						GCTCTGGCCTCTATGTCTGGA	0.532																																																0													134	136	135					11																	44079985		1985	4152	6137	SO:0001819	synonymous_variant	390110				CCDS41636.1	11p11.2	2008-11-26			ENSG00000205126	ENSG00000205126			34391	protein-coding gene	gene with protein product							Standard	NM_001031854		Approved		uc001mxw.1	Q4AC99	OTTHUMG00000166426	ENST00000378832.1:c.1446C>T	chr11.hg19:g.44079985C>T				Silent	SNP	ENST00000378832.1	hg19	CCDS41636.1																																																																																				0.532	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389717.1	NM_001031854		T	44079985	C	T	44079985	2	4	664	1	0	0	0	0	0	0	0	1	134	900	32	2		2	ACCSL	11	44079985	Silent	SNP	C	TCGA-GL-A59R-01A-11D-A26P-10		44079985	90926531	46	36223											
CNTF	1270	hgsc.bcm.edu	37	11	58391968	58391968	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr11:58391968delT	ENST00000361987.4	+	2	656	c.576delT	c.(574-576)catfs	p.H192fs	ZFP91-CNTF_ENST00000389919.4_3'UTR	NM_000614.3	NP_000605.1	P26441	CNTF_HUMAN	ciliary neurotrophic factor	192					ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|growth (GO:0040007)|muscle organ morphogenesis (GO:0048644)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of photoreceptor cell differentiation (GO:0046533)|neuron development (GO:0048666)|positive regulation of cell proliferation (GO:0008284)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of retinal cell programmed cell death (GO:0046668)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor activity (GO:0008083)|interleukin-6 receptor binding (GO:0005138)			NS(1)|breast(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)	10		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				GTGGGAGCCATTATATTGCTA	0.468																																																0													84	88	86					11																	58391968		2201	4295	6496	SO:0001589	frameshift_variant	1270			BC068030	CCDS31554.1	11q12	2011-07-21			ENSG00000242689	ENSG00000242689			2169	protein-coding gene	gene with protein product		118945				1840538, 1714745	Standard	NM_000614		Approved	HCNTF	uc001nna.4	P26441	OTTHUMG00000137476	ENST00000361987.4:c.576delT	chr11.hg19:g.58391968delT	ENSP00000355370:p.His192fs		B2RAB2	Frame_Shift_Del	DEL	ENST00000361987.4	hg19	CCDS31554.1																																																																																				0.468	CNTF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268673.1	NM_000614		-	58391968	T	-	58391968	7	5	664	1	0	1	0	1	0	0	0	0	3639	1490	52	0	582	0	CNTF	11	58391968	Frame_Shift_Del	DEL	T	TCGA-GL-A59R-01A-11D-A26P-10	14311983	58391968	76614548	47	36224											
RELA	5970	hgsc.bcm.edu	37	11	65425828	65425840	+	Frame_Shift_Del	DEL	GGAGACACGCACA	GGAGACACGCACA	-	rs375033007		TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10	GGAGACACGCACA	GGAGACACGCACA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr11:65425828_65425840delGGAGACACGCACA	ENST00000406246.3	-	8	1056_1068	c.795_807delTGTGCGTGTCTCC	c.(793-807)cctgtgcgtgtctccfs	p.PVRVS265fs	RELA_ENST00000308639.9_Frame_Shift_Del_p.PVRVS262fs|RELA_ENST00000525693.1_Frame_Shift_Del_p.PVRVS265fs	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	265	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				acetaldehyde metabolic process (GO:0006117)|aging (GO:0007568)|cellular defense response (GO:0006968)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|Fc-epsilon receptor signaling pathway (GO:0038095)|hair follicle development (GO:0001942)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|liver development (GO:0001889)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of Schwann cell differentiation (GO:0014040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of inflammatory response (GO:0050727)|response to amino acid (GO:0043200)|response to cAMP (GO:0051591)|response to cobalamin (GO:0033590)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to interleukin-1 (GO:0070555)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to muramyl dipeptide (GO:0032495)|response to organic substance (GO:0010033)|response to progesterone (GO:0032570)|response to UV-B (GO:0010224)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phosphate ion binding (GO:0042301)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|repressing transcription factor binding (GO:0070491)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						GCAGCTGCATGGAGACACGCACAGGAGCCTGCA	0.634																																																0																																										SO:0001589	frameshift_variant	5970			Z22951	CCDS31609.1, CCDS44651.1, CCDS73322.1	11q13	2013-07-09	2013-07-09		ENSG00000173039	ENSG00000173039			9955	protein-coding gene	gene with protein product		164014	"nuclear factor of kappa light polypeptide gene enhancer in B-cells 3"	NFKB3		2001591	Standard	NM_021975		Approved	p65	uc001ofg.3	Q04206	OTTHUMG00000166566	ENST00000406246.3:c.795_807delTGTGCGTGTCTCC	chr11.hg19:g.65425828_65425840delGGAGACACGCACA	ENSP00000384273:p.Pro265fs		Q6GTV1|Q6SLK1	Frame_Shift_Del	DEL	ENST00000406246.3	hg19	CCDS31609.1																																																																																				0.634	RELA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390457.2	NM_021975		-	65425840	GGAGACACGCACA	-	65425828	7	5	664	1	0	1	0	1	0	0	0	0	13222	1335	47	0	864	0	RELA	11	65425828	Frame_Shift_Del	DEL	GGAGACACGCACA	TCGA-GL-A59R-01A-11D-A26P-10	7033860	65425828	69580688	48	36225											
MYO7A	4647	hgsc.bcm.edu	37	11	76893004	76893004	+	Missense_Mutation	SNP	A	A	G			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr11:76893004A>G	ENST00000409709.3	+	24	3184	c.2912A>G	c.(2911-2913)gAg>gGg	p.E971G	MYO7A_ENST00000409619.2_Missense_Mutation_p.E960G|MYO7A_ENST00000409893.1_Missense_Mutation_p.E971G|MYO7A_ENST00000458637.2_Missense_Mutation_p.E971G	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	971					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						CAGGACCTGGAGCGAGGGCGG	0.592																																																0													50	59	56					11																	76893004		2084	4201	6285	SO:0001583	missense	4647			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.2912A>G	chr11.hg19:g.76893004A>G	ENSP00000386331:p.Glu971Gly		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	hg19	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	.	18.27	3.586425	0.66105	.	.	ENSG00000137474	ENST00000409709;ENST00000409893;ENST00000458637;ENST00000409619;ENST00000545136;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000343419;ENST00000458169	D;D;D;D;D	0.89617	-2.5;-2.54;-2.51;-2.53;-2.29	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.89054	0.6606	M	0.81802	2.56	0.80722	D	1	B;B;B;B	0.29835	0.258;0.087;0.011;0.023	B;B;B;B	0.28784	0.043;0.094;0.068;0.043	D	0.87356	0.2341	10	0.36615	T	0.2	.	15.3587	0.74453	1.0:0.0:0.0:0.0	.	971;960;971;971	B9A012;B9A011;F8VUN5;Q13402	.;.;.;MYO7A_HUMAN	G	971;971;971;960;182;970;970;847;970;152	ENSP00000386331:E971G;ENSP00000386689:E971G;ENSP00000392185:E971G;ENSP00000386635:E960G;ENSP00000417017:E152G	ENSP00000345075:E847G	E	+	2	0	MYO7A	76570652	1.000000	0.71417	0.998000	0.56505	0.830000	0.47004	8.887000	0.92456	2.028000	0.59812	0.448000	0.29417	GAG		0.592	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		G	76893004	A	G	76893004	3	3	664	1	0	0	0	0	1	0	0	0	10084	304	11	3	3002	3	MYO7A	11	76893004	Missense_Mutation	SNP	A	TCGA-GL-A59R-01A-11D-A26P-10	11467176	76893004	58113512	49	36226											
EXPH5	23086	hgsc.bcm.edu	37	11	108381026	108381026	+	Silent	SNP	T	T	G			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr11:108381026T>G	ENST00000265843.4	-	6	5318	c.5208A>C	c.(5206-5208)acA>acC	p.T1736T	EXPH5_ENST00000525344.1_Silent_p.T1729T|EXPH5_ENST00000443411.1_Silent_p.T1548T|EXPH5_ENST00000428840.1_Silent_p.T1660T	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1736					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)		GGCTGGTGAATGTGATGGGTG	0.468																																																0													85	91	89					11																	108381026		2201	4298	6499	SO:0001819	synonymous_variant	23086				CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"synaptotagmin-like homologue lacking C2 domains b"	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.5208A>C	chr11.hg19:g.108381026T>G			Q2KHM1|Q9Y4D6	Silent	SNP	ENST00000265843.4	hg19	CCDS8341.1																																																																																				0.468	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		G	108381026	T	G	108381026	2	3	664	1	0	0	0	0	0	0	0	1	5324	1451	51	5		5	EXPH5	11	108381026	Silent	SNP	T	TCGA-GL-A59R-01A-11D-A26P-10	31488022	108381026	26625490	50	36227											
MCAM	4162	hgsc.bcm.edu	37	11	119182661	119182661	+	Splice_Site	SNP	T	T	A			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr11:119182661T>A	ENST00000264036.4	-	10	1158		c.e10-2		MCAM_ENST00000392814.1_Splice_Site|MCAM_ENST00000530144.2_5'Flank	NM_006500.2	NP_006491.2	P43121	MUC18_HUMAN	melanoma cell adhesion molecule						anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|glomerular filtration (GO:0003094)|vascular wound healing (GO:0061042)	external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		CTGGCCTGTCTGGGATGAGAG	0.632																																																0													90	93	92					11																	119182661		2199	4295	6494	SO:0001630	splice_region_variant	4162			X68264	CCDS31690.1	11q23.3	2013-01-29				ENSG00000076706		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6934	protein-coding gene	gene with protein product	"Gicerin"	155735				2602381, 10702685	Standard	XM_005271552		Approved	MUC18, CD146	uc001pwf.3	P43121		ENST00000264036.4:c.1144-2A>T	chr11.hg19:g.119182661T>A			O95812|Q59E86|Q6PHR3|Q6ZTR2	Splice_Site	SNP	ENST00000264036.4	hg19	CCDS31690.1	.	.	.	.	.	.	.	.	.	.	T	15.24	2.776310	0.49786	.	.	ENSG00000076706	ENST00000264036;ENST00000392814	.	.	.	4.73	4.73	0.59995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.4953	0.33125	0.0:0.0:0.1965:0.8035	.	.	.	.	.	-1	.	.	.	-	.	.	MCAM	118687871	1.000000	0.71417	0.979000	0.43373	0.886000	0.51366	4.238000	0.58688	1.973000	0.57446	0.379000	0.24179	.		0.632	MCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388332.2		Intron	A	119182661	T	A	119182661	5	1	664	1	0	0	0	0	0	0	1	0	9370	1594	55	5	826	5	MCAM	11	119182661	Splice_Site	SNP	T	TCGA-GL-A59R-01A-11D-A26P-10	10801635	119182661	15823855	51	36228											
SLC2A14	144195	hgsc.bcm.edu	37	12	7984344	7984344	+	Missense_Mutation	SNP	A	A	T			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr12:7984344A>T	ENST00000543909.1	-	9	956	c.197T>A	c.(196-198)aTc>aAc	p.I66N	SLC2A14_ENST00000396589.2_Missense_Mutation_p.I66N|SLC2A14_ENST00000542546.1_Intron|SLC2A14_ENST00000539924.1_Missense_Mutation_p.I81N|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000535295.1_Intron|SLC2A14_ENST00000431042.2_Missense_Mutation_p.I43N|SLC2A14_ENST00000340749.5_Missense_Mutation_p.I43N			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	66					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)		AGTTTTATTGATAAATTCCTT	0.458											OREG0021654	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													89	86	87					12																	7984344		2203	4300	6503	SO:0001583	missense	144195			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.197T>A	chr12.hg19:g.7984344A>T	ENSP00000440480:p.Ile66Asn	645	B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9	Missense_Mutation	SNP	ENST00000543909.1	hg19	CCDS8585.1	.	.	.	.	.	.	.	.	.	.	A	13.77	2.337198	0.41398	.	.	ENSG00000173262	ENST00000340749;ENST00000543909;ENST00000431042;ENST00000396589;ENST00000539924;ENST00000546234;ENST00000542782;ENST00000535344;ENST00000537557;ENST00000535266;ENST00000542916;ENST00000535383	T;T;T;T;T;T;T;T;T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46;-1.46;-1.46;-1.46;-1.46;-1.46;-1.46;-0.83;-0.83	3.6	3.6	0.41247	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.322524	0.33496	N	0.004853	D	0.84325	0.5447	M	0.70595	2.14	0.31524	N	0.662021	P;P;B	0.45428	0.858;0.81;0.093	P;P;B	0.57009	0.811;0.575;0.102	D	0.84462	0.0594	10	0.72032	D	0.01	.	6.4066	0.21668	0.781:0.0:0.0:0.219	.	81;43;66	B7ZAC3;Q8TDB8-2;Q8TDB8	.;.;GTR14_HUMAN	N	43;66;43;66;81;43;43;43;66;66;43;43	ENSP00000340450:I43N;ENSP00000440480:I66N;ENSP00000407287:I43N;ENSP00000379834:I66N;ENSP00000445929:I81N;ENSP00000440043:I43N;ENSP00000438312:I43N;ENSP00000443217:I43N;ENSP00000440044:I66N;ENSP00000437653:I66N;ENSP00000442402:I43N;ENSP00000443076:I43N	ENSP00000340450:I43N	I	-	2	0	SLC2A14	7875611	0.995000	0.38212	0.015000	0.15790	0.012000	0.07955	1.901000	0.39838	1.391000	0.46566	0.477000	0.44152	ATC		0.458	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399836.2	NM_153449		T	7984344	A	T	7984344	3	4	664	1	0	0	0	0	1	0	0	0	14549	333	12	5	1397	5	SLC2A14	12	7984344	Missense_Mutation	SNP	A	TCGA-GL-A59R-01A-11D-A26P-10		7984344	125867551	52	36229											
BCL2L14	79370	hgsc.bcm.edu	37	12	12247627	12247628	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr12:12247627_12247628delCT	ENST00000308721.5	+	5	914_915	c.708_709delCT	c.(706-711)cacttcfs	p.F237fs	BCL2L14_ENST00000589718.1_Frame_Shift_Del_p.F237fs|BCL2L14_ENST00000396369.1_Intron|BCL2L14_ENST00000586576.1_Frame_Shift_Del_p.F270fs|BCL2L14_ENST00000396367.1_Frame_Shift_Del_p.F237fs|BCL2L14_ENST00000266434.4_3'UTR	NM_138723.1	NP_620049.1	Q9BZR8	B2L14_HUMAN	BCL2-like 14 (apoptosis facilitator)	237					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular organelle (GO:0043229)|membrane (GO:0016020)	protein kinase binding (GO:0019901)			large_intestine(1)|lung(2)|skin(3)	6		Prostate(47;0.0872)		BRCA - Breast invasive adenocarcinoma(232;0.154)		TGATGGGCCACTTCCAGGATGG	0.49																																																0																																										SO:0001589	frameshift_variant	79370			AF281254	CCDS8645.1, CCDS8646.1	12p13-p12	2014-03-07			ENSG00000121380	ENSG00000121380			16657	protein-coding gene	gene with protein product		606126				11054413	Standard	NM_030766		Approved	BCLG, BCL-G	uc001rac.3	Q9BZR8	OTTHUMG00000159528	ENST00000308721.5:c.708_709delCT	chr12.hg19:g.12247627_12247628delCT	ENSP00000309132:p.Phe237fs		A8KAD0|Q96QR5|Q9BZR7	Frame_Shift_Del	DEL	ENST00000308721.5	hg19	CCDS8645.1																																																																																				0.49	BCL2L14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355994.3	NM_030766		-	12247628	CT	-	12247627	7	5	664	1	0	1	0	1	0	0	0	0	1372	564	20	0	807	0	BCL2L14	12	12247627	Frame_Shift_Del	DEL	CT	TCGA-GL-A59R-01A-11D-A26P-10	4263283	12247627	121604268	53	36230											
LRP6	4040	hgsc.bcm.edu	37	12	12274330	12274330	+	Missense_Mutation	SNP	G	G	C			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr12:12274330G>C	ENST00000261349.4	-	23	4648	c.4572C>G	c.(4570-4572)caC>caG	p.H1524Q	BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000543091.1_Missense_Mutation_p.H1479Q	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1524					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)				GGGGTGCAAAGTGCCGGTAGC	0.463																																																0													99	103	101					12																	12274330		2203	4300	6503	SO:0001583	missense	4040			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.4572C>G	chr12.hg19:g.12274330G>C	ENSP00000261349:p.His1524Gln		Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	hg19	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.088550	0.36855	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.92911	-3.07;-3.13	5.86	4.96	0.65561	.	0.000000	0.64402	D	0.000004	D	0.89663	0.6780	L	0.43152	1.355	0.54753	D	0.999989	D;P	0.54207	0.965;0.607	P;B	0.47981	0.563;0.177	D	0.88842	0.3313	10	0.52906	T	0.07	.	9.8375	0.40977	0.2372:0.0:0.7628:0.0	.	1479;1524	F5H7J9;O75581	.;LRP6_HUMAN	Q	1524;1479	ENSP00000261349:H1524Q;ENSP00000442472:H1479Q	ENSP00000261349:H1524Q	H	-	3	2	LRP6	12165597	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.704000	0.37857	2.780000	0.95670	0.643000	0.83706	CAC		0.463	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			C	12274330	G	C	12274330	3	2	664	1	0	0	0	0	1	0	0	0	8964	1020	36	4	273	4	LRP6	12	12274330	Missense_Mutation	SNP	G	TCGA-GL-A59R-01A-11D-A26P-10	26703	12274330	121577565	54	36231											
ARID2	196528	hgsc.bcm.edu	37	12	46244883	46244883	+	Missense_Mutation	SNP	A	A	T			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr12:46244883A>T	ENST00000334344.6	+	15	3149	c.2977A>T	c.(2977-2979)Acc>Tcc	p.T993S	ARID2_ENST00000422737.1_Missense_Mutation_p.T844S|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Missense_Mutation_p.T603S|ARID2_ENST00000457135.1_5'Flank	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	993	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)		GTCGTCCTCTACCCCTCAATC	0.498			"N, S, F"		hepatocellular carcinoma																																		Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	0													246	213	224					12																	46244883		2203	4300	6503	SO:0001583	missense	196528				CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"-"	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.2977A>T	chr12.hg19:g.46244883A>T	ENSP00000335044:p.Thr993Ser		Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	hg19	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	A	5.023	0.189957	0.09547	.	.	ENSG00000189079	ENST00000334344;ENST00000549153;ENST00000338636;ENST00000422737;ENST00000444670	T	0.33438	1.41	5.66	2.06	0.26882	.	0.394387	0.30593	N	0.009288	T	0.17746	0.0426	N	0.19112	0.55	0.80722	D	1	B;B;B	0.26147	0.143;0.143;0.104	B;B;B	0.30572	0.117;0.075;0.039	T	0.06041	-1.0849	10	0.31617	T	0.26	-1.4259	6.2264	0.20710	0.6727:0.124:0.2032:0.0	.	993;603;993	Q68CP9-3;F8W108;Q68CP9	.;.;ARID2_HUMAN	S	993;110;110;844;603	ENSP00000335044:T993S	ENSP00000335044:T993S	T	+	1	0	ARID2	44531150	0.976000	0.34144	0.996000	0.52242	0.380000	0.30137	1.302000	0.33459	0.425000	0.26087	0.379000	0.24179	ACC		0.498	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		T	46244883	A	T	46244883	3	4	664	1	0	0	0	0	1	0	0	0	915	391	14	5	3035	5	ARID2	12	46244883	Missense_Mutation	SNP	A	TCGA-GL-A59R-01A-11D-A26P-10	33970553	46244883	87607012	55	36232											
NAV3	89795	hgsc.bcm.edu	37	12	78591182	78591182	+	Splice_Site	SNP	G	G	C			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr12:78591182G>C	ENST00000397909.2	+	35	6619		c.e35+1		NAV3_ENST00000266692.7_Splice_Site|NAV3_ENST00000541270.1_5'Flank|NAV3_ENST00000536525.2_Splice_Site|NAV3_ENST00000228327.6_Splice_Site			Q8IVL0	NAV3_HUMAN	neuron navigator 3							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						ACAACAAATGGTATGCTTATC	0.284										HNSCC(70;0.22)																																						0													83	73	76					12																	78591182		1798	4068	5866	SO:0001630	splice_region_variant	89795			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.6446+1G>C	chr12.hg19:g.78591182G>C			Q8NFW7|Q9Y2E7	Splice_Site	SNP	ENST00000397909.2	hg19		.	.	.	.	.	.	.	.	.	.	G	25.5	4.648927	0.87958	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000552895;ENST00000550788	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8339	0.96646	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NAV3	77115313	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.813000	0.99286	2.751000	0.94390	0.655000	0.94253	.		0.284	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383	Intron	C	78591182	G	C	78591182	5	2	664	1	0	0	0	0	0	0	1	0	10187	1275	44	4	6515	4	NAV3	12	78591182	Splice_Site	SNP	G	TCGA-GL-A59R-01A-11D-A26P-10	32346299	78591182	55260713	56	36233											
ATXN2	6311	hgsc.bcm.edu	37	12	111926345	111926345	+	Silent	SNP	A	A	G			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr12:111926345A>G	ENST00000377617.3	-	15	2816	c.2655T>C	c.(2653-2655)gtT>gtC	p.V885V	ATXN2_ENST00000535949.1_Silent_p.V596V|ATXN2_ENST00000608853.1_Silent_p.V725V|AC002395.1_ENST00000581907.1_RNA|ATXN2_ENST00000389153.4_Silent_p.V620V|ATXN2_ENST00000542287.2_Silent_p.V620V|ATXN2_ENST00000550104.1_Silent_p.V885V	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	885					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						TGGAAGTCTGAACCCCTTGGG	0.498																																																0													122	117	119					12																	111926345		2203	4300	6503	SO:0001819	synonymous_variant	6311			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.2655T>C	chr12.hg19:g.111926345A>G			A6NLD4|Q6ZQZ7|Q99493	Silent	SNP	ENST00000377617.3	hg19	CCDS31902.1																																																																																				0.498	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257351.3	NM_002973		G	111926345	A	G	111926345	2	3	664	1	0	0	0	0	0	0	0	1	1211	233	9	3		3	ATXN2	12	111926345	Silent	SNP	A	TCGA-GL-A59R-01A-11D-A26P-10	33335163	111926345	21925550	57	36234											
CIT	11113	hgsc.bcm.edu	37	12	120158284	120158284	+	Splice_Site	SNP	T	T	C			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr12:120158284T>C	ENST00000261833.7	-	29	3765	c.3713A>G	c.(3712-3714)aAg>aGg	p.K1238R	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000392521.2_Splice_Site_p.K1280R	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1238	Interaction with Rho/Rac.				cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TTGACTCACCTTTTTCTTTTT	0.373																																																0													136	130	132					12																	120158284		2203	4299	6502	SO:0001630	splice_region_variant	11113			AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"serine/threonine kinase 21"	605629	"citron (rho-interacting, serine/threonine kinase 21)"			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.3714+1A>G	chr12.hg19:g.120158284T>C			Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	hg19	CCDS9192.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.70|18.70	3.680696|3.680696	0.68042|0.68042	.|.	.|.	ENSG00000122966|ENSG00000122966	ENST00000392521;ENST00000261833|ENST00000392520	T;T|.	0.69806|.	-0.42;-0.43|.	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72070|0.72070	0.3415|0.3415	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	B;D;P|.	0.69078|.	0.355;0.997;0.734|.	B;D;B|.	0.73380|.	0.1;0.98;0.203|.	T|T	0.70880|0.70880	-0.4752|-0.4752	10|5	0.24483|.	T|.	0.36|.	.|.	16.1193|16.1193	0.81336|0.81336	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1280;1238;771|.	Q2M5E1;O14578;O14578-3|.	.;CTRO_HUMAN;.|.	R|G	1280;1238|866	ENSP00000376306:K1280R;ENSP00000261833:K1238R|.	ENSP00000261833:K1238R|.	K|R	-|-	2|1	0|2	CIT|CIT	118642667|118642667	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.040000|8.040000	0.89188|0.89188	2.204000|2.204000	0.70986|0.70986	0.528000|0.528000	0.53228|0.53228	AAG|AGG		0.373	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174	Missense_Mutation	C	120158284	T	C	120158284	5	2	664	1	0	0	0	0	0	0	1	0	3440	1623	56	3	2446	3	CIT	12	120158284	Splice_Site	SNP	T	TCGA-GL-A59R-01A-11D-A26P-10	8231939	120158284	13693611	58	36235											
KIAA0564	23078	hgsc.bcm.edu	37	13	42440068	42440068	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr13:42440068C>T	ENST00000379310.3	-	11	1385	c.1317G>A	c.(1315-1317)atG>atA	p.M439I	VWA8_ENST00000281496.6_Missense_Mutation_p.M439I	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	439						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										TATCTTTAACCATGTGAGACT	0.418																																																0													146	148	147					13																	42440068		2203	4300	6503	SO:0001583	missense	23078			AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"KIAA0564"	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.1317G>A	chr13.hg19:g.42440068C>T	ENSP00000368612:p.Met439Ile		O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	ENST00000379310.3	hg19	CCDS41881.1	.	.	.	.	.	.	.	.	.	.	C	12.78	2.040196	0.35989	.	.	ENSG00000102763	ENST00000251030;ENST00000379310;ENST00000281496;ENST00000398857	T;T	0.38401	1.14;1.14	5.3	5.3	0.74995	ATPase, AAA+ type, core (1);	0.109015	0.64402	D	0.000017	T	0.33381	0.0861	L	0.46157	1.445	0.43467	D	0.995671	B	0.02656	0.0	B	0.09377	0.004	T	0.17471	-1.0368	10	0.11182	T	0.66	.	19.3149	0.94208	0.0:1.0:0.0:0.0	.	439	A3KMH1	K0564_HUMAN	I	343;439;439;439	ENSP00000368612:M439I;ENSP00000281496:M439I	ENSP00000251030:M343I	M	-	3	0	KIAA0564	41338068	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.386000	0.52492	2.631000	0.89168	0.563000	0.77884	ATG		0.418	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		T	42440068	C	T	42440068	3	4	664	1	0	0	0	0	1	0	0	0	8187	594	21	2	4544	2	KIAA0564	13	42440068	Missense_Mutation	SNP	C	TCGA-GL-A59R-01A-11D-A26P-10		42440068	72729810	59	36236											
SIX4	51804	hgsc.bcm.edu	37	14	61186919	61186919	+	Missense_Mutation	SNP	T	T	A			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr14:61186919T>A	ENST00000216513.4	-	2	1167	c.1108A>T	c.(1108-1110)Att>Ttt	p.I370F		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	370					anatomical structure morphogenesis (GO:0009653)|embryonic cranial skeleton morphogenesis (GO:0048701)|generation of neurons (GO:0048699)|inner ear morphogenesis (GO:0042472)|metanephric mesenchyme development (GO:0072075)|myoblast migration (GO:0051451)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		GGTCCCTGAATAAAAGAATTT	0.398																																																0													79	76	77					14																	61186919		2203	4300	6503	SO:0001583	missense	51804			AB024687	CCDS9749.2	14q23.1	2012-10-02	2007-07-13		ENSG00000100625	ENSG00000100625		"Homeoboxes / SINE class"	10890	protein-coding gene	gene with protein product		606342	"sine oculis homeobox (Drosophila) homolog 4", "sine oculis homeobox homolog 4 (Drosophila)"			10512683, 10640827	Standard	NM_017420		Approved	AREC3	uc001xfc.3	Q9UIU6	OTTHUMG00000028996	ENST00000216513.4:c.1108A>T	chr14.hg19:g.61186919T>A	ENSP00000216513:p.Ile370Phe		Q4QQH5|Q4V764	Missense_Mutation	SNP	ENST00000216513.4	hg19	CCDS9749.2	.	.	.	.	.	.	.	.	.	.	T	13.45	2.239521	0.39598	.	.	ENSG00000100625	ENST00000216513;ENST00000554079;ENST00000556952	D;T	0.91792	-2.91;0.56	5.72	5.72	0.89469	.	0.297103	0.34178	N	0.004182	D	0.86464	0.5939	N	0.19112	0.55	0.47698	D	0.999492	P;P	0.49090	0.919;0.454	B;B	0.43575	0.424;0.153	D	0.86816	0.2001	10	0.41790	T	0.15	.	12.7402	0.57249	0.0:0.0:0.146:0.854	.	362;370	G3V2N2;Q9UIU6	.;SIX4_HUMAN	F	370;43;362	ENSP00000216513:I370F;ENSP00000451537:I43F	ENSP00000216513:I370F	I	-	1	0	SIX4	60256672	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.761000	0.55242	2.194000	0.70268	0.533000	0.62120	ATT		0.398	SIX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072397.2			A	61186919	T	A	61186919	3	1	664	1	0	0	0	0	1	0	0	0	14355	1406	49	5	1245	5	SIX4	14	61186919	Missense_Mutation	SNP	T	TCGA-GL-A59R-01A-11D-A26P-10		61186919	46162621	60	36237											
GPHN	10243	hgsc.bcm.edu	37	14	67647539	67647539	+	Missense_Mutation	SNP	G	G	A			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr14:67647539G>A	ENST00000315266.5	+	22	3217	c.2096G>A	c.(2095-2097)cGt>cAt	p.R699H	GPHN_ENST00000543237.1_Missense_Mutation_p.R745H|GPHN_ENST00000478722.1_Missense_Mutation_p.R732H|GPHN_ENST00000305960.9_Missense_Mutation_p.R668H|GPHN_ENST00000544752.2_3'UTR	NM_001024218.1	NP_001019389.1	Q9NQX3	GEPH_HUMAN	gephyrin	699	MPT adenylyltransferase.				establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycine receptor clustering (GO:0072579)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|molybdopterin adenylyltransferase activity (GO:0061598)|molybdopterin molybdotransferase activity (GO:0061599)|transferase activity (GO:0016740)			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		ATGAGCAGCCGTCTGATGAGC	0.458			T	MLL	AL																																		Dom	yes		14	14q24	10243	gephyrin (GPH)		L	0													128	105	113					14																	67647539		2203	4300	6503	SO:0001583	missense	10243			AB037806	CCDS9777.1, CCDS32103.1	14q23.3	2008-04-22			ENSG00000171723	ENSG00000171723			15465	protein-coding gene	gene with protein product		603930				1319186, 10325225, 18403029	Standard	XM_005267250		Approved	KIAA1385	uc001xix.3	Q9NQX3	OTTHUMG00000029785	ENST00000315266.5:c.2096G>A	chr14.hg19:g.67647539G>A	ENSP00000312771:p.Arg699His		Q9H4E9|Q9P2G2	Missense_Mutation	SNP	ENST00000315266.5	hg19	CCDS32103.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.934351	0.73442	.	.	ENSG00000171723	ENST00000315266;ENST00000478722;ENST00000543237;ENST00000305960	.	.	.	5.83	4.93	0.64822	MoeA, C-terminal, domain IV (3);	0.102725	0.64402	D	0.000004	T	0.79476	0.4452	M	0.81112	2.525	0.80722	D	1	P;D;D;D	0.89917	0.953;1.0;0.978;1.0	B;D;P;D	0.87578	0.379;0.998;0.75;0.998	T	0.80308	-0.1437	9	0.51188	T	0.08	-7.1864	15.3438	0.74317	0.0681:0.0:0.9319:0.0	.	668;745;699;732	F8W7D6;F5H039;Q9NQX3;Q9NQX3-2	.;.;GEPH_HUMAN;.	H	699;732;745;668	.	ENSP00000303019:R668H	R	+	2	0	GPHN	66717292	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.843000	0.86859	2.768000	0.95171	0.467000	0.42956	CGT		0.458	GPHN-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000074299.2	NM_020806		A	67647539	G	A	67647539	3	1	664	1	0	0	0	0	1	0	0	0	6612	1145	40	1	2285	1	GPHN	14	67647539	Missense_Mutation	SNP	G	TCGA-GL-A59R-01A-11D-A26P-10	6460620	67647539	39702001	61	36238											
EML5	161436	hgsc.bcm.edu	37	14	89171882	89171883	+	Frame_Shift_Ins	INS	-	-	T			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr14:89171882_89171883insT	ENST00000380664.5	-	12	1874_1875	c.1875_1876insA	c.(1873-1878)gatgttfs	p.V626fs	EML5_ENST00000352093.5_Frame_Shift_Ins_p.V626fs|EML5_ENST00000554922.1_Frame_Shift_Ins_p.V626fs			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	626						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						AGTTCTGGAACATCAGACAGAT	0.337																																																0																																										SO:0001589	frameshift_variant	161436			AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"WD repeat domain containing"	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.1875_1876insA	chr14.hg19:g.89171882_89171883insT	ENSP00000370039:p.Val626fs		B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Frame_Shift_Ins	INS	ENST00000380664.5	hg19	CCDS45148.1																																																																																				0.337	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1			T	89171883	-	T	89171882	7	5	664	1	0	1	1	0	0	0	0	0	5102	478	17	0	4185	0	EML5	14	89171882	Frame_Shift_Ins	INS	-	TCGA-GL-A59R-01A-11D-A26P-10	21524343	89171882	18177658	62	36239											
RYR3	6263	hgsc.bcm.edu	37	15	34130027	34130027	+	Frame_Shift_Del	DEL	A	A	-			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr15:34130027delA	ENST00000389232.4	+	89	11916	c.11846delA	c.(11845-11847)gaafs	p.E3949fs	RYR3_ENST00000415757.3_Frame_Shift_Del_p.E3944fs	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3949					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)		AAGGCCATGGAAGGGCAAAAA	0.403																																																0													108	103	104					15																	34130027		1895	4111	6006	SO:0001589	frameshift_variant	6263				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.11846delA	chr15.hg19:g.34130027delA	ENSP00000373884:p.Glu3949fs		O15175|Q15412	Frame_Shift_Del	DEL	ENST00000389232.4	hg19	CCDS45210.1																																																																																				0.403	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			-	34130027	A	-	34130027	7	5	664	1	0	1	0	1	0	0	0	0	13776	246	9	0	12200	0	RYR3	15	34130027	Frame_Shift_Del	DEL	A	TCGA-GL-A59R-01A-11D-A26P-10		34130027	68401365	63	36240											
CASKIN1	57524	hgsc.bcm.edu	37	16	2239295	2239295	+	Missense_Mutation	SNP	C	C	A			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr16:2239295C>A	ENST00000343516.6	-	5	522	c.430G>T	c.(430-432)Gtg>Ttg	p.V144L		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	144					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						GAGTTGTCCACCATGCACGGG	0.697																																																0													39	52	47					16																	2239295		2114	4208	6322	SO:0001583	missense	57524			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.430G>T	chr16.hg19:g.2239295C>A	ENSP00000345436:p.Val144Leu		Q9P2P0	Missense_Mutation	SNP	ENST00000343516.6	hg19	CCDS42103.1	.	.	.	.	.	.	.	.	.	.	C	16.12	3.032936	0.54790	.	.	ENSG00000167971	ENST00000343516	T	0.64438	-0.1	3.46	3.46	0.39613	Ankyrin repeat-containing domain (3);	.	.	.	.	T	0.42291	0.1196	N	0.13327	0.33	0.42422	D	0.992647	B	0.25105	0.118	B	0.29353	0.101	T	0.44190	-0.9344	9	0.56958	D	0.05	-19.1703	5.5157	0.16906	0.0:0.7694:0.0:0.2306	.	144	Q8WXD9	CSKI1_HUMAN	L	144	ENSP00000345436:V144L	ENSP00000345436:V144L	V	-	1	0	CASKIN1	2179296	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.807000	0.38902	1.954000	0.56735	0.561000	0.74099	GTG		0.697	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435055.1	NM_020764		A	2239295	C	A	2239295	3	1	664	1	0	0	0	0	1	0	0	0	2668	507	18	4	3929	4	CASKIN1	16	2239295	Missense_Mutation	SNP	C	TCGA-GL-A59R-01A-11D-A26P-10		2239295	88115458	64	36241											
TMEM159	57146	hgsc.bcm.edu	37	16	21185458	21185458	+	Missense_Mutation	SNP	G	G	C			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr16:21185458G>C	ENST00000233047.4	+	4	861	c.393G>C	c.(391-393)tgG>tgC	p.W131C	TMEM159_ENST00000572599.1_Missense_Mutation_p.W131C|TMEM159_ENST00000451578.2_Missense_Mutation_p.W155C|TMEM159_ENST00000572258.1_Intron|TMEM159_ENST00000261388.3_Missense_Mutation_p.W131C			Q96B96	TM159_HUMAN	transmembrane protein 159	131						integral component of membrane (GO:0016021)				large_intestine(3)|lung(2)|ovary(1)	6				GBM - Glioblastoma multiforme(48;0.0972)		TCAGCTGCTGGTTTTCTCCCA	0.428																																																0													121	98	106					16																	21185458		2200	4300	6500	SO:0001583	missense	57146			AF070596	CCDS10595.1	16p12.2	2008-02-05			ENSG00000011638	ENSG00000011638			30136	protein-coding gene	gene with protein product		611304				8619474, 9110174, 15589683	Standard	NM_020422		Approved	promethin	uc002dif.4	Q96B96	OTTHUMG00000131559	ENST00000233047.4:c.393G>C	chr16.hg19:g.21185458G>C	ENSP00000233047:p.Trp131Cys		A6NMA9|B4DEC1|O00323	Missense_Mutation	SNP	ENST00000233047.4	hg19	CCDS10595.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.059590	0.36373	.	.	ENSG00000011638	ENST00000233047;ENST00000261388;ENST00000451578	T;T;T	0.25579	1.8;1.8;1.79	6.07	6.07	0.98685	.	0.371511	0.26467	N	0.024208	T	0.49338	0.1551	M	0.64997	1.995	0.58432	D	0.999993	D;D	0.76494	0.999;0.999	D;D	0.65874	0.939;0.912	T	0.38950	-0.9637	10	0.72032	D	0.01	-19.3257	18.139	0.89633	0.0:0.0:1.0:0.0	.	155;131	B4DEC1;Q96B96	.;TM159_HUMAN	C	131;131;155	ENSP00000233047:W131C;ENSP00000261388:W131C;ENSP00000409879:W155C	ENSP00000233047:W131C	W	+	3	0	TMEM159	21092959	1.000000	0.71417	1.000000	0.80357	0.655000	0.38815	3.746000	0.55127	2.885000	0.99019	0.650000	0.86243	TGG		0.428	TMEM159-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254421.1	NM_020422		C	21185458	G	C	21185458	3	2	664	1	0	0	0	0	1	0	0	0	16079	1270	44	4	403	4	TMEM159	16	21185458	Missense_Mutation	SNP	G	TCGA-GL-A59R-01A-11D-A26P-10	18946163	21185458	69169295	65	36242											
ZP2	7783	hgsc.bcm.edu	37	16	21214557	21214557	+	Missense_Mutation	SNP	G	G	T			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr16:21214557G>T	ENST00000574002.1	-	11	1470	c.988C>A	c.(988-990)Cta>Ata	p.L330I	ZP2_ENST00000574091.1_Missense_Mutation_p.L330I|AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000219593.4_Missense_Mutation_p.L330I			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	330					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)		TGATGGAGTAGGCATTTTTCA	0.483																																																0													107	102	103					16																	21214557		2200	4300	6500	SO:0001583	missense	7783			M90366	CCDS10596.1, CCDS73843.1	16p12	2014-07-04			ENSG00000103310	ENSG00000103310		"Zona pellucida glycoproteins"	13188	protein-coding gene	gene with protein product		182888				8385033	Standard	XM_005255562		Approved	ZPA	uc002dii.2	Q05996	OTTHUMG00000090681	ENST00000574002.1:c.988C>A	chr16.hg19:g.21214557G>T	ENSP00000460971:p.Leu330Ile		B2R7J2|Q4VAN9|Q4VAP0|Q4VAP1	Missense_Mutation	SNP	ENST00000574002.1	hg19	CCDS10596.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.523709	0.44866	.	.	ENSG00000103310	ENST00000219593	T	0.76316	-1.01	5.97	2.76	0.32466	.	0.485326	0.18994	N	0.125524	T	0.77267	0.4105	M	0.75447	2.3	0.19575	N	0.999964	P;P	0.51351	0.944;0.944	P;P	0.47981	0.563;0.563	T	0.66685	-0.5861	10	0.32370	T	0.25	-6.6445	7.7511	0.28898	0.1328:0.292:0.5752:0.0	.	330;330	Q4VAP1;Q05996	.;ZP2_HUMAN	I	330	ENSP00000219593:L330I	ENSP00000219593:L330I	L	-	1	2	ZP2	21122058	0.879000	0.30193	0.975000	0.42487	0.291000	0.27294	0.880000	0.28159	1.513000	0.48852	0.655000	0.94253	CTA		0.483	ZP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207365.2			T	21214557	G	T	21214557	3	4	664	1	0	0	0	0	1	0	0	0	18221	991	35	4	1289	4	ZP2	16	21214557	Missense_Mutation	SNP	G	TCGA-GL-A59R-01A-11D-A26P-10	29099	21214557	69140196	66	36243											
SETD1A	9739	hgsc.bcm.edu	37	16	30976286	30976286	+	Missense_Mutation	SNP	C	C	A			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr16:30976286C>A	ENST00000262519.8	+	7	1909	c.1223C>A	c.(1222-1224)tCt>tAt	p.S408Y		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	408	Pro-rich. {ECO:0000255}.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						TTCCCACCTTCTTACACCTCC	0.662																																																0													57	66	63					16																	30976286		2197	4300	6497	SO:0001583	missense	9739			AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"Chromatin-modifying enzymes / K-methyltransferases", "RNA binding motif (RRM) containing"	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.1223C>A	chr16.hg19:g.30976286C>A	ENSP00000262519:p.Ser408Tyr		A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	SNP	ENST00000262519.8	hg19	CCDS32435.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.182646	0.38511	.	.	ENSG00000099381	ENST00000262519	D	0.94497	-3.44	5.64	5.64	0.86602	.	0.197187	0.45361	D	0.000366	D	0.93979	0.8072	L	0.36672	1.1	0.26055	N	0.981439	D	0.67145	0.996	P	0.56700	0.804	D	0.89234	0.3579	10	0.72032	D	0.01	.	12.5755	0.56362	0.0:0.92:0.0:0.08	.	408	O15047	SET1A_HUMAN	Y	408	ENSP00000262519:S408Y	ENSP00000262519:S408Y	S	+	2	0	SETD1A	30883787	1.000000	0.71417	1.000000	0.80357	0.548000	0.35241	3.742000	0.55097	2.648000	0.89879	0.561000	0.74099	TCT		0.662	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		A	30976286	C	A	30976286	3	1	664	1	0	0	0	0	1	0	0	0	14136	913	32	4	1245	4	SETD1A	16	30976286	Missense_Mutation	SNP	C	TCGA-GL-A59R-01A-11D-A26P-10	9761729	30976286	59378467	67	36244											
THAP11	57215	hgsc.bcm.edu	37	16	67876718	67876718	+	Missense_Mutation	SNP	G	G	T			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr16:67876718G>T	ENST00000303596.1	+	1	506	c.261G>T	c.(259-261)gaG>gaT	p.E87D	CENPT_ENST00000562787.1_Intron	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN	THAP domain containing 11	87					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		GCGTCAATGAGCGCAAAGTAG	0.687																																																0													18	19	18					16																	67876718		2197	4296	6493	SO:0001583	missense	57215			AB015338	CCDS10847.1	16q22.1	2013-01-25			ENSG00000168286	ENSG00000168286		"THAP (C2CH-type zinc finger) domain containing"	23194	protein-coding gene	gene with protein product		609119				12575992, 8325628	Standard	NM_020457		Approved	HRIHFB2206, CTG-B45d, CTG-B43a	uc002euo.3	Q96EK4	OTTHUMG00000137546	ENST00000303596.1:c.261G>T	chr16.hg19:g.67876718G>T	ENSP00000304689:p.Glu87Asp		A4UCT5|A8K002|O94795	Missense_Mutation	SNP	ENST00000303596.1	hg19	CCDS10847.1	.	.	.	.	.	.	.	.	.	.	G	17.35	3.368381	0.61513	.	.	ENSG00000168286	ENST00000303596	T	0.33216	1.42	5.4	4.31	0.51392	.	0.000000	0.85682	D	0.000000	T	0.41880	0.1178	L	0.32530	0.975	0.51767	D	0.999939	D	0.63880	0.993	D	0.70016	0.967	T	0.26121	-1.0112	10	0.54805	T	0.06	-16.1311	11.7789	0.52001	0.1059:0.0:0.8941:0.0	.	87	Q96EK4	THA11_HUMAN	D	87	ENSP00000304689:E87D	ENSP00000304689:E87D	E	+	3	2	THAP11	66434219	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.044000	0.57361	1.155000	0.42497	0.563000	0.77884	GAG		0.687	THAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268879.1	NM_020457		T	67876718	G	T	67876718	3	4	664	1	0	0	0	0	1	0	0	0	15848	962	34	4	263	4	THAP11	16	67876718	Missense_Mutation	SNP	G	TCGA-GL-A59R-01A-11D-A26P-10	36900432	67876718	22478035	68	36245											
LGALS9	3965	hgsc.bcm.edu	37	17	25967635	25967635	+	Missense_Mutation	SNP	G	G	A			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr17:25967635G>A	ENST00000395473.2	+	3	1637	c.169G>A	c.(169-171)Gac>Aac	p.D57N	LGALS9_ENST00000313648.6_Missense_Mutation_p.D57N|AC015688.3_ENST00000584605.1_3'UTR|LGALS9_ENST00000413914.2_Intron|LGALS9_ENST00000310394.5_Missense_Mutation_p.D57N|LGALS9_ENST00000302228.5_Missense_Mutation_p.D57N|LGALS9_ENST00000448970.2_3'UTR	NM_009587.2	NP_033665.1	O00182	LEG9_HUMAN	lectin, galactoside-binding, soluble, 9	57	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.				positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|galactose binding (GO:0005534)|signal transducer activity (GO:0004871)			endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		CAGTGGAAATGACATTGCCTT	0.527																																					Melanoma(106;677 1527 28724 29571 46552)|Ovarian(193;263 2088 2118 29005 43023)											0													124	118	120					17																	25967635		2203	4300	6503	SO:0001583	missense	3965			AB006782	CCDS11222.1, CCDS32592.1	17q11.2	2013-03-28	2008-07-25		ENSG00000168961	ENSG00000168961		"Lectins, galactoside-binding"	6570	protein-coding gene	gene with protein product	"galectin 9"	601879				9045665	Standard	NM_009587		Approved	LGALS9A	uc002gzp.3	O00182	OTTHUMG00000179831	ENST00000395473.2:c.169G>A	chr17.hg19:g.25967635G>A	ENSP00000378856:p.Asp57Asn		A7VJG6|O14532|O75028|Q3B8N1|Q53FQ0|Q9NQ58	Missense_Mutation	SNP	ENST00000395473.2	hg19	CCDS11222.1	.	.	.	.	.	.	.	.	.	.	G	9.418	1.082274	0.20309	.	.	ENSG00000168961	ENST00000395473;ENST00000302228;ENST00000310394;ENST00000313648;ENST00000448970	T;T;T;T	0.14022	2.54;2.54;2.54;2.54	3.94	0.839	0.18907	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.459334	0.24325	N	0.039518	T	0.12774	0.0310	L	0.50993	1.605	0.58432	D	0.999995	B;P;P	0.42871	0.1;0.792;0.624	B;B;B	0.42319	0.084;0.383;0.203	T	0.06570	-1.0819	10	0.42905	T	0.14	.	7.4254	0.27096	0.3157:0.0:0.6843:0.0	.	57;57;57	F8W9W4;Q3B8N1;O00182	.;.;LEG9_HUMAN	N	57	ENSP00000378856:D57N;ENSP00000306228:D57N;ENSP00000312259:D57N;ENSP00000318214:D57N	ENSP00000306228:D57N	D	+	1	0	LGALS9	22991762	0.637000	0.27216	0.459000	0.27081	0.622000	0.37654	0.741000	0.26202	0.460000	0.27045	0.586000	0.80456	GAC		0.527	LGALS9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255583.1	NM_009587		A	25967635	G	A	25967635	3	1	664	1	0	0	0	0	1	0	0	0	8750	1290	45	2	179	2	LGALS9	17	25967635	Missense_Mutation	SNP	G	TCGA-GL-A59R-01A-11D-A26P-10		25967635	55227575	69	36246											
WIPI1	55062	hgsc.bcm.edu	37	17	66440668	66440668	+	Silent	SNP	C	C	T			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr17:66440668C>T	ENST00000262139.5	-	4	395	c.396G>A	c.(394-396)ttG>ttA	p.L132L	WIPI1_ENST00000589459.1_5'UTR|WIPI1_ENST00000546360.1_Silent_p.L50L	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	132					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						GGAGGGTCTTCAACAGCTTCA	0.433																																																0													150	137	142					17																	66440668		2203	4300	6503	SO:0001819	synonymous_variant	55062				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.396G>A	chr17.hg19:g.66440668C>T			Q8IXM5|Q9NWF8	Silent	SNP	ENST00000262139.5	hg19	CCDS11677.1																																																																																				0.433	WIPI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448739.1	NM_017983		T	66440668	C	T	66440668	2	4	664	1	0	0	0	0	0	0	0	1	17375	825	29	2		2	WIPI1	17	66440668	Silent	SNP	C	TCGA-GL-A59R-01A-11D-A26P-10	40473033	66440668	14754542	70	36247											
RBBP8	5932	hgsc.bcm.edu	37	18	20562277	20562277	+	Silent	SNP	G	G	A			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr18:20562277G>A	ENST00000399722.2	+	7	876	c.525G>A	c.(523-525)cgG>cgA	p.R175R	RBBP8_ENST00000327155.5_Silent_p.R175R|RBBP8_ENST00000360790.5_Silent_p.R175R|RBBP8_ENST00000399725.2_Silent_p.R175R	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	175					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)			GCGTTAACCGGCTACGAAGAA	0.433								Homologous recombination																																								0													174	154	161					18																	20562277		2203	4300	6503	SO:0001819	synonymous_variant	5932			AF043431	CCDS11874.1, CCDS11875.1	18q11.2	2012-11-05	2001-11-28		ENSG00000101773	ENSG00000101773			9891	protein-coding gene	gene with protein product	"CTBP-interacting protein"	604124	"retinoblastoma-binding protein 8", "Seckel syndrome 2"	SCKL2		9721205, 17965729, 21998596	Standard	NM_002894		Approved	CtIP, RIM, COM1	uc002ktw.3	Q99708	OTTHUMG00000131769	ENST00000399722.2:c.525G>A	chr18.hg19:g.20562277G>A			A6NKN2|A8K8W6|E7ETY1|O75371|Q8NHQ3	Silent	SNP	ENST00000399722.2	hg19	CCDS11875.1																																																																																				0.433	RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446387.1	NM_203291		A	20562277	G	A	20562277	2	1	664	1	0	0	0	0	0	0	0	1	13111	1190	42	2		2	RBBP8	18	20562277	Silent	SNP	G	TCGA-GL-A59R-01A-11D-A26P-10		20562277	57514971	71	36248											
TRPM4	54795	hgsc.bcm.edu	37	19	49714007	49714007	+	Silent	SNP	G	G	T			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr19:49714007G>T	ENST00000252826.5	+	22	3495	c.3369G>T	c.(3367-3369)acG>acT	p.T1123T	TRPM4_ENST00000355712.5_Silent_p.T769T|TRPM4_ENST00000427978.2_Silent_p.T978T	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	1123	Calmodulin-binding.				calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		AGCTGCTAACGTGGGAATCGG	0.622																																																0													38	44	42					19																	49714007		2203	4300	6503	SO:0001819	synonymous_variant	54795			AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"Voltage-gated ion channels / Transient receptor potential cation channels"	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.3369G>T	chr19.hg19:g.49714007G>T			A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Silent	SNP	ENST00000252826.5	hg19	CCDS33073.1																																																																																				0.622	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	NM_017636		T	49714007	G	T	49714007	2	4	664	1	0	0	0	0	0	0	0	1	16593	1132	40	4		4	TRPM4	19	49714007	Silent	SNP	G	TCGA-GL-A59R-01A-11D-A26P-10		49714007	9414976	72	36249											
TMC4	147798	hgsc.bcm.edu	37	19	54669261	54669261	+	Silent	SNP	G	G	T			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr19:54669261G>T	ENST00000376591.4	-	6	986	c.855C>A	c.(853-855)tcC>tcA	p.S285S	TMC4_ENST00000416963.1_5'Flank|TMC4_ENST00000476013.2_Intron|TMC4_ENST00000301187.4_Silent_p.S279S	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	285					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TCAGAGCCTCGGACTCCGCCA	0.652																																																0													32	30	31					19																	54669261		2202	4299	6501	SO:0001819	synonymous_variant	147798			AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.855C>A	chr19.hg19:g.54669261G>T			Q7Z5M3|Q8N5E4|Q8TBS7	Silent	SNP	ENST00000376591.4	hg19	CCDS46174.1																																																																																				0.652	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2			T	54669261	G	T	54669261	2	4	664	1	0	0	0	0	0	0	0	1	15992	1103	39	4		4	TMC4	19	54669261	Silent	SNP	G	TCGA-GL-A59R-01A-11D-A26P-10	4955254	54669261	4459722	73	36250											
CSE1L	1434	hgsc.bcm.edu	37	20	47705894	47705895	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr20:47705894_47705895insTT	ENST00000262982.2	+	18	2055_2056	c.1932_1933insTT	c.(1933-1935)tttfs	p.F645fs	CSE1L_ENST00000542325.1_Frame_Shift_Ins_p.F428fs|CSE1L_ENST00000396192.3_Frame_Shift_Ins_p.F589fs	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	645					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	importin-alpha export receptor activity (GO:0008262)			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			AGGAGGCTTTGTTTTTGGTGTT	0.312																																																0																																										SO:0001589	frameshift_variant	1434			U33286	CCDS13412.1, CCDS58773.1	20q13	2013-05-01	2001-11-28		ENSG00000124207	ENSG00000124207		"Exportins"	2431	protein-coding gene	gene with protein product	"cellular apoptosis susceptibility"	601342	"chromosome segregation 1 (yeast homolog)-like"			8963895, 7479798	Standard	NM_001316		Approved	CAS, XPO2, CSE1	uc002xty.4	P55060	OTTHUMG00000033046	ENST00000262982.2:c.1935_1936dupTT	chr20.hg19:g.47705897_47705898dupTT	ENSP00000262982:p.Phe645fs		A3RLL6|B2R5T4|E1P5Y0|F8W904|O75432|Q32M40|Q9H5B7|Q9NTS0|Q9UP98|Q9UP99|Q9UPA0	Frame_Shift_Ins	INS	ENST00000262982.2	hg19	CCDS13412.1																																																																																				0.312	CSE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080345.2	NM_001316		TT	47705895	-	TT	47705894	7	5	664	1	0	1	1	0	0	0	0	0	3932	1368	48	0	1998	0	CSE1L	20	47705894	Frame_Shift_Ins	INS	-	TCGA-GL-A59R-01A-11D-A26P-10		47705894	15319626	74	36251											
CASS4	57091	hgsc.bcm.edu	37	20	55033659	55033659	+	Missense_Mutation	SNP	C	C	A			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr20:55033659C>A	ENST00000360314.3	+	7	2442	c.2217C>A	c.(2215-2217)caC>caA	p.H739Q	CASS4_ENST00000371336.3_Missense_Mutation_p.H739Q|CASS4_ENST00000434344.1_Missense_Mutation_p.H302Q|AL121914.1_ENST00000390795.2_RNA	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	739					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						GCAGCAGTCACCTCTGCAGCC	0.642																																																0													61	50	53					20																	55033659		2203	4300	6503	SO:0001583	missense	57091			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.2217C>A	chr20.hg19:g.55033659C>A	ENSP00000353462:p.His739Gln		E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Missense_Mutation	SNP	ENST00000360314.3	hg19	CCDS33492.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.631149	0.28978	.	.	ENSG00000087589	ENST00000360314;ENST00000371336;ENST00000434344	T;T;T	0.22336	1.96;1.96;1.96	5.91	1.54	0.23209	CAS family, DUF3513 (1);	0.511945	0.22918	N	0.054044	T	0.15305	0.0369	L	0.32530	0.975	0.32062	N	0.595525	B;B;B	0.22983	0.078;0.023;0.065	B;B;B	0.23275	0.045;0.013;0.033	T	0.18650	-1.0330	10	0.12430	T	0.62	-9.0912	15.118	0.72419	0.0882:0.3522:0.5595:0.0	.	685;302;739	B4DII4;Q9NQ75-3;Q9NQ75	.;.;CASS4_HUMAN	Q	739;739;302	ENSP00000353462:H739Q;ENSP00000360387:H739Q;ENSP00000410027:H302Q	ENSP00000353462:H739Q	H	+	3	2	CASS4	54467066	1.000000	0.71417	0.288000	0.24862	0.859000	0.49053	1.083000	0.30815	0.372000	0.24591	0.655000	0.94253	CAC		0.642	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079789.2	NM_020356		A	55033659	C	A	55033659	3	1	664	1	0	0	0	0	1	0	0	0	2685	506	18	4	2239	4	CASS4	20	55033659	Missense_Mutation	SNP	C	TCGA-GL-A59R-01A-11D-A26P-10	7327765	55033659	7991861	75	36252											
SLCO4A1	28231	hgsc.bcm.edu	37	20	61300283	61300283	+	Splice_Site	SNP	G	G	A			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr20:61300283G>A	ENST00000370507.1	+	10	1974	c.1878G>A	c.(1876-1878)ggG>ggA	p.G626G	RP11-93B14.5_ENST00000451648.1_RNA|RP11-93B14.5_ENST00000411824.1_RNA|RP11-93B14.5_ENST00000433126.1_RNA|SLCO4A1_ENST00000217159.1_Splice_Site_p.G626G|SLCO4A1_ENST00000470412.1_3'UTR			Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	626					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)	TCTCCGCAGGGGGCATCCCGG	0.662											OREG0026115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(168;741 2006 10379 40139 45334)											0													29	32	31					20																	61300283		2202	4299	6501	SO:0001630	splice_region_variant	28231			AB031051	CCDS13501.1	20q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000101187	ENSG00000101187		"Solute carriers"	10953	protein-coding gene	gene with protein product		612436	"solute carrier family 21 (organic anion transporter), member 12"	SLC21A12		10873595	Standard	NM_016354		Approved	OATP-E, OATP4A1	uc002ydb.1	Q96BD0	OTTHUMG00000032923	ENST00000370507.1:c.1877-1G>A	chr20.hg19:g.61300283G>A		1052	Q9H4T7|Q9H4T8|Q9H8P2|Q9NWX8|Q9UI35|Q9UIG7	Silent	SNP	ENST00000370507.1	hg19	CCDS13501.1																																																																																				0.662	SLCO4A1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080048.2	NM_016354	Silent	A	61300283	G	A	61300283	5	1	664	1	0	0	0	0	0	0	1	0	14735	1246	43	2	1916	2	SLCO4A1	20	61300283	Splice_Site	SNP	G	TCGA-GL-A59R-01A-11D-A26P-10	6266624	61300283	1725237	76	36253											
KRTAP19-7	337974	hgsc.bcm.edu	37	21	31933587	31933587	+	Frame_Shift_Del	DEL	A	A	-	rs149420565		TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr21:31933587delA	ENST00000334849.2	-	1	46	c.22delT	c.(22-24)tatfs	p.Y8fs		NM_181614.1	NP_853645.1	Q3SYF9	KR197_HUMAN	keratin associated protein 19-7	8						intermediate filament (GO:0005882)				endometrium(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	11						AGGCCTCCATAGTAGCTGCCG	0.522																																																0													123	106	111					21																	31933587		2203	4300	6503	SO:0001589	frameshift_variant	337974			AP001708	CCDS13599.1	21q22.1	2006-03-13			ENSG00000244362	ENSG00000244362		"Keratin associated proteins"	18942	protein-coding gene	gene with protein product						12359730	Standard	NM_181614		Approved	KAP19.7	uc011adb.2	Q3SYF9	OTTHUMG00000057785	ENST00000334849.2:c.22delT	chr21.hg19:g.31933587delA	ENSP00000334696:p.Tyr8fs		Q08EP7	Frame_Shift_Del	DEL	ENST00000334849.2	hg19	CCDS13599.1																																																																																				0.522	KRTAP19-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128237.2			-	31933587	A	-	31933587	7	5	664	1	0	1	0	1	0	0	0	0	8536	420	15	0	172	0	KRTAP19-7	21	31933587	Frame_Shift_Del	DEL	A	TCGA-GL-A59R-01A-11D-A26P-10		31933587	16196308	77	36254											
COL18A1	80781	hgsc.bcm.edu	37	21	46875643	46875643	+	Missense_Mutation	SNP	C	C	G	rs375087150		TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr21:46875643C>G	ENST00000359759.4	+	1	220	c.199C>G	c.(199-201)Cgg>Ggg	p.R67G	COL18A1_ENST00000355480.5_Missense_Mutation_p.R67G|COL18A1_ENST00000400337.2_Intron			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	67					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)		CGTGACCCCCCGGAATGGTTC	0.647																																																0													53	68	63					21																	46875643		2077	4200	6277	SO:0001583	missense	80781				CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"Collagens"	2195	protein-coding gene	gene with protein product	"endostatin"	120328	"Knobloch syndrome, type 1"	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.199C>G	chr21.hg19:g.46875643C>G	ENSP00000352798:p.Arg67Gly		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Missense_Mutation	SNP	ENST00000359759.4	hg19		.	.	.	.	.	.	.	.	.	.	C	10.16	1.275053	0.23307	.	.	ENSG00000182871	ENST00000355480;ENST00000359759;ENST00000539645	T;T	0.38077	1.16;1.16	3.61	0.181	0.15073	Domain of unknown function DUF959, collagen XVIII, N-terminal (1);	1.949970	0.03091	N	0.159750	T	0.22627	0.0546	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.28522	-1.0041	10	0.72032	D	0.01	.	4.007	0.09605	0.0:0.3657:0.3946:0.2397	.	67;67	P39060;P39060-1	COIA1_HUMAN;.	G	67	ENSP00000347665:R67G;ENSP00000352798:R67G	ENSP00000347665:R67G	R	+	1	2	COL18A1	45700071	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.084000	0.14891	0.253000	0.21552	-0.339000	0.08088	CGG		0.647	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1			G	46875643	C	G	46875643	3	3	664	1	0	0	0	0	1	0	0	0	3677	643	23	4	315	4	COL18A1	21	46875643	Missense_Mutation	SNP	C	TCGA-GL-A59R-01A-11D-A26P-10	14942056	46875643	1254252	78	36255											
GAB4	128954	hgsc.bcm.edu	37	22	17488934	17488934	+	Missense_Mutation	SNP	G	G	A			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr22:17488934G>A	ENST00000400588.1	-	1	178	c.71C>T	c.(70-72)tCg>tTg	p.S24L	GAB4_ENST00000523144.1_5'Flank	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	24										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				TCCGGGCCACGAAGACAAAGG	0.682																																																0													16	19	18					22																	17488934		2097	4219	6316	SO:0001583	missense	128954			AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568		"Pleckstrin homology (PH) domain containing"	18325	protein-coding gene	gene with protein product							Standard	NM_001037814		Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.71C>T	chr22.hg19:g.17488934G>A	ENSP00000383431:p.Ser24Leu			Missense_Mutation	SNP	ENST00000400588.1	hg19	CCDS42976.1	.	.	.	.	.	.	.	.	.	.	G	10.22	1.290327	0.23478	.	.	ENSG00000215568	ENST00000400588	T	0.10288	2.89	0.637	0.637	0.17735	.	.	.	.	.	T	0.04634	0.0126	N	0.08118	0	0.09310	N	1	P	0.44241	0.829	B	0.40134	0.32	T	0.37244	-0.9714	8	0.14656	T	0.56	.	.	.	.	.	24	Q2WGN9	GAB4_HUMAN	L	24	ENSP00000383431:S24L	ENSP00000383431:S24L	S	-	2	0	GAB4	15868934	0.001000	0.12720	0.007000	0.13788	0.022000	0.10575	-0.092000	0.11129	0.591000	0.29711	0.313000	0.20887	TCG		0.682	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315426.1	XM_372882		A	17488934	G	A	17488934	3	1	664	1	0	0	0	0	1	0	0	0	6153	1059	37	1	1693	1	GAB4	22	17488934	Missense_Mutation	SNP	G	TCGA-GL-A59R-01A-11D-A26P-10		17488934	33815632	79	36256											
EP300	2033	hgsc.bcm.edu	37	22	41558757	41558757	+	Frame_Shift_Del	DEL	A	A	-			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr22:41558757delA	ENST00000263253.7	+	21	4921	c.3702delA	c.(3700-3702)agafs	p.R1234fs		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1234					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)	p.Y1198_L1243del(1)		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						TTTCCAAGAGAAAAAATGACA	0.368			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																														Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"L, E"	1	Deletion - In frame(1)	breast(1)											120	114	116					22																	41558757		2203	4300	6503	SO:0001589	frameshift_variant	2033	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"Chromatin-modifying enzymes / K-acetyltransferases"	3373	protein-coding gene	gene with protein product	"histone acetyltransferase p300"	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.3702delA	chr22.hg19:g.41558757delA	ENSP00000263253:p.Arg1234fs		B1AKC2	Frame_Shift_Del	DEL	ENST00000263253.7	hg19	CCDS14010.1																																																																																				0.368	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		-	41558757	A	-	41558757	7	5	664	1	0	1	0	1	0	0	0	0	5150	243	9	0	3784	0	EP300	22	41558757	Frame_Shift_Del	DEL	A	TCGA-GL-A59R-01A-11D-A26P-10	24069823	41558757	9745809	80	36257											
PADI4	23569	hgsc.bcm.edu	37	1	17674521	17674521	+	Missense_Mutation	SNP	A	A	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr1:17674521A>T	ENST00000375448.4	+	10	1159	c.1133A>T	c.(1132-1134)gAg>gTg	p.E378V	AC004824.2_ENST00000602074.1_Intron|PADI4_ENST00000487048.1_3'UTR	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	378					cellular protein modification process (GO:0006464)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|histone citrullination (GO:0036414)|histone H3-R26 citrullination (GO:0036413)|innate immune response (GO:0045087)|nucleosome assembly (GO:0006334)|protein citrullination (GO:0018101)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginine deiminase activity (GO:0016990)|calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	GGCCTGAAGGAGTTTCCCATC	0.567																																																0													99	89	92					1																	17674521		2203	4300	6503	SO:0001583	missense	23569			AB017919	CCDS180.1	1p36.13	2014-06-06	2003-02-12		ENSG00000159339	ENSG00000159339	3.5.3.15	"Peptidyl arginine deiminases"	18368	protein-coding gene	gene with protein product		605347	"peptidyl arginine deiminase, type V"	PADI5		10488123	Standard	NM_012387		Approved	PAD, PDI5, PDI4	uc001baj.2	Q9UM07	OTTHUMG00000002371	ENST00000375448.4:c.1133A>T	chr1.hg19:g.17674521A>T	ENSP00000364597:p.Glu378Val		A8K392|B2RBW0|Q5VTZ8|Q70SX4	Missense_Mutation	SNP	ENST00000375448.4	hg19	CCDS180.1	.	.	.	.	.	.	.	.	.	.	-	15.98	2.991445	0.54041	.	.	ENSG00000159339	ENST00000375448	T	0.25414	1.8	4.85	4.85	0.62838	Protein-arginine deiminase, C-terminal (1);	0.357378	0.28883	N	0.013830	T	0.23649	0.0572	N	0.13235	0.315	0.39431	D	0.967088	B;P	0.47191	0.04;0.891	B;P	0.51550	0.091;0.673	T	0.05920	-1.0856	10	0.41790	T	0.15	-11.7468	11.9518	0.52959	1.0:0.0:0.0:0.0	.	378;378	A8K392;Q9UM07	.;PADI4_HUMAN	V	378	ENSP00000364597:E378V	ENSP00000364597:E378V	E	+	2	0	PADI4	17547108	1.000000	0.71417	0.970000	0.41538	0.890000	0.51754	6.131000	0.71670	2.042000	0.60477	0.423000	0.28283	GAG		0.567	PADI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006799.1	NM_012387		T	17674521	A	T	17674521	3	4	665	1	0	0	0	0	1	0	0	0	11382	304	11	5	1171	5	PADI4	1	17674521	Missense_Mutation	SNP	A	TCGA-GL-A59T-01A-21D-A28G-10		17674521	231576100	1	36258											
RWDD3	25950	hgsc.bcm.edu	37	1	95710051	95710051	+	Missense_Mutation	SNP	A	A	T	rs138509057		TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr1:95710051A>T	ENST00000370202.4	+	2	446	c.370A>T	c.(370-372)Agt>Tgt	p.S124C	RWDD3_ENST00000263893.6_Missense_Mutation_p.S124C|RWDD3_ENST00000495272.1_3'UTR|RP11-57H12.6_ENST00000604534.1_3'UTR|RP11-57H12.5_ENST00000444665.1_RNA|RWDD3_ENST00000429514.2_Missense_Mutation_p.S109C	NM_001199682.1|NM_015485.4	NP_001186611.1|NP_056300	Q9Y3V2	RWDD3_HUMAN	RWD domain containing 3	124					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of hypoxia-inducible factor-1alpha signaling pathway (GO:1902073)|positive regulation of protein sumoylation (GO:0033235)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.S124R(1)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)	10		all_epithelial(167;5.99e-05)|all_lung(203;0.00168)|Lung NSC(277;0.00769)		all cancers(265;0.112)|Epithelial(280;0.229)		TGGCAGTGGCAGTGAAAAGTG	0.438																																																1	Substitution - Missense(1)	large_intestine(1)											107	102	104					1																	95710051		1947	4130	6077	SO:0001583	missense	25950			BC010936	CCDS41357.1, CCDS44177.1	1p22.1	2012-12-07			ENSG00000122481	ENSG00000122481			21393	protein-coding gene	gene with protein product		615875				11230166	Standard	NM_015485		Approved	DKFZP566K023	uc009wdu.3	Q9Y3V2	OTTHUMG00000010910	ENST00000370202.4:c.370A>T	chr1.hg19:g.95710051A>T	ENSP00000359221:p.Ser124Cys		A6NP44|A8K9F0|C9J9L7|C9JI45|Q08AJ7|Q6FID3|Q9BX35	Missense_Mutation	SNP	ENST00000370202.4	hg19	CCDS41357.1	.	.	.	.	.	.	.	.	.	.	A	3.798	-0.042270	0.07452	.	.	ENSG00000122481	ENST00000370202;ENST00000429514;ENST00000263893	T;T;T	0.34859	1.34;1.38;1.35	5.38	-5.53	0.02552	.	1.677590	0.02325	N	0.073392	T	0.09202	0.0227	L	0.40543	1.245	0.09310	N	1	B;B;B;B;B	0.11235	0.001;0.001;0.0;0.004;0.0	B;B;B;B;B	0.09377	0.001;0.001;0.0;0.004;0.001	T	0.27191	-1.0081	10	0.52906	T	0.07	0.4062	0.9194	0.01311	0.2608:0.2714:0.1228:0.345	.	109;124;124;109;124	E7ES73;Q9Y3V2;D3DT49;Q9Y3V2-3;Q9Y3V2-2	.;RWDD3_HUMAN;.;.;.	C	124;109;124	ENSP00000359221:S124C;ENSP00000397398:S109C;ENSP00000263893:S124C	ENSP00000263893:S124C	S	+	1	0	RWDD3	95482639	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.566000	0.05922	-0.478000	0.06823	-0.274000	0.10170	AGT		0.438	RWDD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030078.1	NM_015485		T	95710051	A	T	95710051	3	4	665	1	0	0	0	0	1	0	0	0	13763	188	7	5	376	5	RWDD3	1	95710051	Missense_Mutation	SNP	A	TCGA-GL-A59T-01A-21D-A28G-10	78035530	95710051	153540570	2	36259											
LPPR4	9890	hgsc.bcm.edu	37	1	99764611	99764611	+	Missense_Mutation	SNP	T	T	C			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr1:99764611T>C	ENST00000370185.3	+	4	1056	c.559T>C	c.(559-561)Tgc>Cgc	p.C187R	LPPR4_ENST00000370184.1_Missense_Mutation_p.C29R|LPPR4_ENST00000457765.1_Missense_Mutation_p.C187R	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		187					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)		ATTTGGATTATGCTCTACAGC	0.363																																																0													150	133	138					1																	99764611		2203	4300	6503	SO:0001583	missense	0																														ENST00000370185.3:c.559T>C	chr1.hg19:g.99764611T>C	ENSP00000359204:p.Cys187Arg		E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	hg19	CCDS757.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.012287	0.75046	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000263178;ENST00000370184	T;T;T	0.52057	0.68;0.68;0.68	5.41	5.41	0.78517	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.63920	0.2552	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.69636	-0.5092	10	0.72032	D	0.01	-30.56	15.7585	0.78058	0.0:0.0:0.0:1.0	.	187;187	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	R	187;187;187;29	ENSP00000359204:C187R;ENSP00000394913:C187R;ENSP00000359203:C29R	ENSP00000263178:C187R	C	+	1	0	RP4-788L13.1	99537199	1.000000	0.71417	0.955000	0.39395	0.578000	0.36192	6.235000	0.72332	2.191000	0.70037	0.528000	0.53228	TGC		0.363	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			C	99764611	T	C	99764611	3	2	665	1	0	0	0	0	1	0	0	0	8929	1464	51	3	573	3	LPPR4	1	99764611	Missense_Mutation	SNP	T	TCGA-GL-A59T-01A-21D-A28G-10	4054560	99764611	149486010	3	36260											
NUP210L	91181	hgsc.bcm.edu	37	1	154033038	154033049	+	In_Frame_Del	DEL	ATGTAAGTGATG	ATGTAAGTGATG	-	rs368673993		TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	ATGTAAGTGATG	ATGTAAGTGATG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr1:154033038_154033049delATGTAAGTGATG	ENST00000368559.3	-	20	2888_2899	c.2817_2828delCATCACTTACAT	c.(2815-2829)accatcacttacatg>acg	p.ITYM940del	NUP210L_ENST00000271854.3_In_Frame_Del_p.ITYM940del	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	940					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)			TTCTGCTTCCATGTAAGTGATGGTGACAACAC	0.415																																																0																																										SO:0001651	inframe_deletion	91181			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.2817_2828delCATCACTTACAT	chr1.hg19:g.154033038_154033049delATGTAAGTGATG	ENSP00000357547:p.Ile940_Met943del		E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	In_Frame_Del	DEL	ENST00000368559.3	hg19	CCDS41399.1																																																																																				0.415	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		-	154033049	ATGTAAGTGATG	-	154033038	7	5	665	1	0	1	0	1	0	0	0	0	10763	217	8	0	2922	0	NUP210L	1	154033038	In_Frame_Del	DEL	ATGTAAGTGATG	TCGA-GL-A59T-01A-21D-A28G-10	54268427	154033038	95217583	4	36261											
KCNN3	3782	hgsc.bcm.edu	37	1	154842253	154842253	+	Missense_Mutation	SNP	G	G	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr1:154842253G>T	ENST00000271915.4	-	1	503	c.188C>A	c.(187-189)cCt>cAt	p.P63H	KCNN3_ENST00000358505.2_5'Flank	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	63	Gln-rich.|Pro-rich.				potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	aagctgcggaggctgaggctg	0.697																																																0													6	4	5					1																	154842253		1984	3925	5909	SO:0001583	missense	3782			AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.188C>A	chr1.hg19:g.154842253G>T	ENSP00000271915:p.Pro63His		B1ANX0|O43517|Q86VF9|Q8WXG7	Missense_Mutation	SNP	ENST00000271915.4	hg19	CCDS30880.1	.	.	.	.	.	.	.	.	.	.	g	11.14	1.552427	0.27739	.	.	ENSG00000143603	ENST00000271915;ENST00000539103	T	0.56275	0.47	5.07	3.18	0.36537	.	1.727610	0.03258	N	0.182822	T	0.18551	0.0445	N	0.08118	0	0.80722	D	1	.	.	.	.	.	.	T	0.11372	-1.0590	8	0.33141	T	0.24	-4.1487	6.4327	0.21807	0.0918:0.0:0.7284:0.1798	.	.	.	.	H	63;158	ENSP00000271915:P63H	ENSP00000271915:P63H	P	-	2	0	KCNN3	153108877	0.863000	0.29885	1.000000	0.80357	0.998000	0.95712	1.873000	0.39558	0.823000	0.34589	0.563000	0.77884	CCT		0.697	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		T	154842253	G	T	154842253	3	4	665	1	0	0	0	0	1	0	0	0	8082	1000	35	4	2061	4	KCNN3	1	154842253	Missense_Mutation	SNP	G	TCGA-GL-A59T-01A-21D-A28G-10	809215	154842253	94408368	5	36262											
THBS3	7059	hgsc.bcm.edu	37	1	155172114	155172114	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr1:155172114G>A	ENST00000368378.3	-	9	1056	c.1036C>T	c.(1036-1038)Cga>Tga	p.R346*	RP11-263K19.4_ENST00000422665.1_RNA|RP11-263K19.4_ENST00000454348.1_RNA|THBS3_ENST00000457183.2_Nonsense_Mutation_p.R226*|RP11-263K19.4_ENST00000430312.1_RNA|RP11-263K19.4_ENST00000447623.1_RNA|RP11-263K19.4_ENST00000436772.1_RNA|RP11-263K19.4_ENST00000453136.1_RNA|THBS3_ENST00000486260.1_5'UTR|THBS3_ENST00000541990.1_5'UTR|THBS3_ENST00000541576.1_5'Flank	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	346	EGF-like 1; calcium-binding. {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)			TTGTACCCTCGAGGACAGGCC	0.602																																																0													96	90	92					1																	155172114		2203	4300	6503	SO:0001587	stop_gained	7059			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.1036C>T	chr1.hg19:g.155172114G>A	ENSP00000357362:p.Arg346*		B1AVR8|B4DQ20|Q8WV34	Nonsense_Mutation	SNP	ENST00000368378.3	hg19	CCDS1099.1	.	.	.	.	.	.	.	.	.	.	G	34	5.316567	0.95655	.	.	ENSG00000169231	ENST00000368378;ENST00000457183;ENST00000428962	.	.	.	5.44	5.44	0.79542	.	0.674441	0.14773	N	0.299266	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	3.2614	16.8112	0.85720	0.0:0.0:1.0:0.0	.	.	.	.	X	346;226;196	.	ENSP00000357362:R346X	R	-	1	2	THBS3	153438738	0.461000	0.25783	0.082000	0.20525	0.937000	0.57800	3.403000	0.52615	2.837000	0.97791	0.655000	0.94253	CGA		0.602	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086856.1	NM_007112		A	155172114	G	A	155172114	4	1	665	1	0	0	0	0	0	1	0	0	15860	1066	37	1	1894	1	THBS3	1	155172114	Nonsense_Mutation	SNP	G	TCGA-GL-A59T-01A-21D-A28G-10	329861	155172114	94078507	6	36263											
PAPPA2	60676	hgsc.bcm.edu	37	1	176525851	176525851	+	Silent	SNP	G	G	A			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr1:176525851G>A	ENST00000367662.3	+	2	1557	c.393G>A	c.(391-393)ggG>ggA	p.G131G	PAPPA2_ENST00000367661.3_Silent_p.G131G	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	131					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						CATGGGTAGGGGATAGTCCTA	0.537																																																0													114	115	114					1																	176525851		2073	4228	6301	SO:0001819	synonymous_variant	60676			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"placenta-specific 3"	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.393G>A	chr1.hg19:g.176525851G>A			A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP	ENST00000367662.3	hg19	CCDS41438.1																																																																																				0.537	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			A	176525851	G	A	176525851	2	1	665	1	0	0	0	0	0	0	0	1	11435	1219	43	2		2	PAPPA2	1	176525851	Silent	SNP	G	TCGA-GL-A59T-01A-21D-A28G-10	21353737	176525851	72724770	7	36264											
SYT2	127833	hgsc.bcm.edu	37	1	202566051	202566052	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	AG	AG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr1:202566051_202566052delAG	ENST00000367267.1	-	9	1285_1286	c.1093_1094delCT	c.(1093-1095)ctgfs	p.L365fs	SYT2_ENST00000367268.4_Frame_Shift_Del_p.L365fs	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	365	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)	GTTCTTGCCCAGCTTGTCATAG	0.584																																																0																																										SO:0001589	frameshift_variant	127833			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.1093_1094delCT	chr1.hg19:g.202566051_202566052delAG	ENSP00000356236:p.Leu365fs		Q496K5|Q8NBE5	Frame_Shift_Del	DEL	ENST00000367267.1	hg19	CCDS1427.1																																																																																				0.584	SYT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099157.1	NM_177402		-	202566052	AG	-	202566051	7	5	665	1	0	1	0	1	0	0	0	0	15479	188	7	0	169	0	SYT2	1	202566051	Frame_Shift_Del	DEL	AG	TCGA-GL-A59T-01A-21D-A28G-10	26040200	202566051	46684570	8	36265											
AHCTF1	25909	hgsc.bcm.edu	37	1	247053281	247053281	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr1:247053281C>T	ENST00000391829.2	-	17	2254	c.2131G>A	c.(2131-2133)Gag>Aag	p.E711K	AHCTF1_ENST00000366508.1_Missense_Mutation_p.E746K|AHCTF1_ENST00000326225.3_Missense_Mutation_p.E720K|AHCTF1_ENST00000470300.1_5'UTR			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	711	Necessary for cytoplasmic 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)	p.E711Q(1)		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)			GATAAACGCTCAAACTTCTGT	0.338																																					Colon(145;197 1800 4745 15099 26333)											1	Substitution - Missense(1)	urinary_tract(1)											114	120	118					1																	247053281		2203	4300	6503	SO:0001583	missense	25909				CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"ELYS transcription factor like protein TMBS62"	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.2131G>A	chr1.hg19:g.247053281C>T	ENSP00000375705:p.Glu711Lys		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	ENST00000391829.2	hg19		.	.	.	.	.	.	.	.	.	.	C	10.35	1.327003	0.24080	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.33438	1.41;1.41;1.41	5.61	3.62	0.41486	.	0.132552	0.52532	D	0.000063	T	0.33323	0.0859	M	0.63428	1.95	0.40661	D	0.982126	P;P	0.48503	0.911;0.605	B;B	0.43867	0.434;0.121	T	0.21211	-1.0252	10	0.34782	T	0.22	-9.9643	12.8931	0.58082	0.0:0.8042:0.1258:0.07	.	746;711	Q8WYP5-2;Q8WYP5	.;ELYS_HUMAN	K	746;720;711	ENSP00000355464:E746K;ENSP00000355465:E720K;ENSP00000375705:E711K	ENSP00000355465:E720K	E	-	1	0	AHCTF1	245119904	1.000000	0.71417	0.890000	0.34922	0.002000	0.02628	3.403000	0.52615	1.379000	0.46325	0.579000	0.79373	GAG		0.338	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		T	247053281	C	T	247053281	3	4	665	1	0	0	0	0	1	0	0	0	408	835	29	2	4749	2	AHCTF1	1	247053281	Missense_Mutation	SNP	C	TCGA-GL-A59T-01A-21D-A28G-10	44487230	247053281	2197340	9	36266											
DNMT3A	1788	hgsc.bcm.edu	37	2	25505312	25505312	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr2:25505312delG	ENST00000264709.3	-	4	783	c.446delC	c.(445-447)gcgfs	p.A149fs	DNMT3A_ENST00000406659.3_Frame_Shift_Del_p.A149fs|DNMT3A_ENST00000321117.5_Frame_Shift_Del_p.A149fs	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	149					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)					GGACTCACCCGCTTCTGCAGG	0.637			"Mis, F, N, S"		AML																																		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	0													14	17	16					2																	25505312		2202	4299	6501	SO:0001589	frameshift_variant	1788				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.446delC	chr2.hg19:g.25505312delG	ENSP00000264709:p.Ala149fs		E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Frame_Shift_Del	DEL	ENST00000264709.3	hg19	CCDS33157.1																																																																																				0.637	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		-	25505312	G	-	25505312	7	5	665	1	0	1	0	1	0	0	0	0	4678	1087	38	0	2505	0	DNMT3A	2	25505312	Frame_Shift_Del	DEL	G	TCGA-GL-A59T-01A-21D-A28G-10		25505312	217694061	10	36267											
ZC3H6	376940	hgsc.bcm.edu	37	2	113089251	113089251	+	Missense_Mutation	SNP	G	G	C			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr2:113089251G>C	ENST00000409871.1	+	12	3157	c.2756G>C	c.(2755-2757)aGt>aCt	p.S919T	ZC3H6_ENST00000343936.4_Missense_Mutation_p.S919T|AC115115.2_ENST00000607612.1_RNA	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	919							metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						AATACAAAAAGTGATCTTCAT	0.388																																																0													65	59	61					2																	113089251		1855	4101	5956	SO:0001583	missense	376940			AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"Zinc fingers, CCCH-type domain containing"	24762	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 6"	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.2756G>C	chr2.hg19:g.113089251G>C	ENSP00000386764:p.Ser919Thr		A9JR71|Q6ZW96	Missense_Mutation	SNP	ENST00000409871.1	hg19	CCDS46393.1	.	.	.	.	.	.	.	.	.	.	G	9.984	1.229069	0.22542	.	.	ENSG00000188177	ENST00000409871;ENST00000343936	T;T	0.15487	2.42;2.42	5.94	5.06	0.68205	.	0.469384	0.26776	N	0.022560	T	0.14485	0.0350	L	0.54323	1.7	0.22389	N	0.999144	P	0.35433	0.501	B	0.26770	0.073	T	0.19679	-1.0298	10	0.39692	T	0.17	-2.4342	9.1318	0.36850	0.2286:0.0:0.7714:0.0	.	919	P61129	ZC3H6_HUMAN	T	919	ENSP00000386764:S919T;ENSP00000340298:S919T	ENSP00000340298:S919T	S	+	2	0	ZC3H6	112805722	0.931000	0.31567	0.994000	0.49952	0.985000	0.73830	1.552000	0.36244	1.512000	0.48834	0.591000	0.81541	AGT		0.388	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330551.1	NM_198581		C	113089251	G	C	113089251	3	2	665	1	0	0	0	0	1	0	0	0	17576	1029	36	4	2802	4	ZC3H6	2	113089251	Missense_Mutation	SNP	G	TCGA-GL-A59T-01A-21D-A28G-10	87583939	113089251	130110122	11	36268											
FAP	2191	hgsc.bcm.edu	37	2	163046173	163046173	+	Silent	SNP	A	A	G			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr2:163046173A>G	ENST00000188790.4	-	18	1749	c.1542T>C	c.(1540-1542)gaT>gaC	p.D514D	FAP_ENST00000443424.1_Silent_p.D489D	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						TACTAATTTCATCTACTTCAA	0.284																																																0													58	59	58					2																	163046173		2190	4274	6464	SO:0001819	synonymous_variant	2191			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.1542T>C	chr2.hg19:g.163046173A>G				Silent	SNP	ENST00000188790.4	hg19	CCDS33311.1																																																																																				0.284	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332852.2			G	163046173	A	G	163046173	2	3	665	1	0	0	0	0	0	0	0	1	5675	214	8	3		3	FAP	2	163046173	Silent	SNP	A	TCGA-GL-A59T-01A-21D-A28G-10	49956922	163046173	80153200	12	36269											
LRP2	4036	hgsc.bcm.edu	37	2	170096143	170096143	+	Frame_Shift_Del	DEL	A	A	-			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr2:170096143delA	ENST00000263816.3	-	26	4473	c.4188delT	c.(4186-4188)attfs	p.I1396fs		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1396	EGF-like 6; calcium-binding. {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)"	AAGAGCCTAGAATATCACATT	0.438																																																0													145	138	141					2																	170096143		2203	4300	6503	SO:0001589	frameshift_variant	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.4188delT	chr2.hg19:g.170096143delA	ENSP00000263816:p.Ile1396fs		O00711|Q16215	Frame_Shift_Del	DEL	ENST00000263816.3	hg19	CCDS2232.1																																																																																				0.438	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		-	170096143	A	-	170096143	7	5	665	1	0	1	0	1	0	0	0	0	8958	242	9	0	9995	0	LRP2	2	170096143	Frame_Shift_Del	DEL	A	TCGA-GL-A59T-01A-21D-A28G-10	7049970	170096143	73103230	13	36270											
FN1	2335	hgsc.bcm.edu	37	2	216232592	216232592	+	Missense_Mutation	SNP	A	A	G			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr2:216232592A>G	ENST00000359671.1	-	41	7004	c.6739T>C	c.(6739-6741)Tca>Cca	p.S2247P	FN1_ENST00000357867.4_Missense_Mutation_p.S2037P|FN1_ENST00000346544.3_Intron|FN1_ENST00000421182.1_Missense_Mutation_p.S2101P|FN1_ENST00000345488.5_Missense_Mutation_p.S2045P|FN1_ENST00000446046.1_Missense_Mutation_p.S2191P|FN1_ENST00000356005.4_Missense_Mutation_p.S2157P|FN1_ENST00000443816.1_Missense_Mutation_p.S2126P|FN1_ENST00000354785.4_Missense_Mutation_p.S2338P|FN1_ENST00000357009.2_3'UTR|FN1_ENST00000336916.4_Missense_Mutation_p.S2216P|FN1_ENST00000432072.2_Missense_Mutation_p.S2128P|FN1_ENST00000323926.6_Missense_Mutation_p.S2307P			P02751	FINC_HUMAN	fibronectin 1	2247	Fibrin-binding 2.|Fibronectin type-I 10. {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)	TCACTAGATGAATCACATCTG	0.458																																																0													115	90	98					2																	216232592		2203	4300	6503	SO:0001583	missense	2335				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.6739T>C	chr2.hg19:g.216232592A>G	ENSP00000352696:p.Ser2247Pro		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	hg19		.	.	.	.	.	.	.	.	.	.	A	20.4	3.977481	0.74360	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000345488;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000456923	T;T;T;T;T;T;T;T;T;T;T;T	0.66638	-0.22;1.16;1.37;-0.05;1.65;1.31;1.1;1.08;0.57;-0.11;0.61;0.54	5.67	5.67	0.87782	Fibronectin, type I (2);Complement control module (1);	0.000000	0.56097	D	0.000034	T	0.79811	0.4510	L	0.61218	1.895	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.995;0.992;1.0;0.992;0.995;0.995;0.999;0.999	D;D;D;D;D;D;D;D;D;D;D	0.91635	0.998;0.989;0.998;0.993;0.985;0.999;0.985;0.993;0.993;0.998;0.995	T	0.80269	-0.1453	10	0.49607	T	0.09	.	15.8986	0.79356	1.0:0.0:0.0:0.0	.	2128;2307;2037;2157;2191;2216;2248;2101;2126;2338;2247	P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15;P02751	.;.;.;.;.;.;.;.;.;.;FINC_HUMAN	P	2101;2307;2216;2037;2338;2248;2247;2045;2191;2126;2128;2157;964	ENSP00000394423:S2101P;ENSP00000323534:S2307P;ENSP00000338200:S2216P;ENSP00000350534:S2037P;ENSP00000346839:S2338P;ENSP00000352696:S2247P;ENSP00000273049:S2045P;ENSP00000410422:S2191P;ENSP00000415018:S2126P;ENSP00000399538:S2128P;ENSP00000348285:S2157P;ENSP00000416139:S964P	ENSP00000265313:S2248P	S	-	1	0	FN1	215940837	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	2.156000	0.67533	0.477000	0.44152	TCA		0.458	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		G	216232592	A	G	216232592	3	3	665	1	0	0	0	0	1	0	0	0	5964	246	9	3	441	3	FN1	2	216232592	Missense_Mutation	SNP	A	TCGA-GL-A59T-01A-21D-A28G-10	46136449	216232592	26966781	14	36271											
EFHD1	80303	hgsc.bcm.edu	37	2	233498655	233498656	+	Frame_Shift_Ins	INS	-	-	AC			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr2:233498655_233498656insAC	ENST00000264059.3	+	1	718_719	c.241_242insAC	c.(241-243)tacfs	p.Y81fs	EFHD1_ENST00000409613.1_Intron	NM_025202.3	NP_079478.1	Q9BUP0	EFHD1_HUMAN	EF-hand domain family, member D1	81					neuron projection development (GO:0031175)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|large_intestine(2)|lung(3)	7		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025)		Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101)		CTTCAACCCCTACACGGAGTTC	0.708																																																0																																										SO:0001589	frameshift_variant	80303				CCDS2497.1, CCDS58755.1	2q37.1	2014-07-01	2005-01-25		ENSG00000115468	ENSG00000115468		"EF-hand domain containing"	29556	protein-coding gene	gene with protein product	"swiprosin-2"	611617	"EF hand domain containing 1"			21244694	Standard	NM_025202		Approved	FLJ13612	uc002vtc.3	Q9BUP0	OTTHUMG00000133263	ENST00000264059.3:c.244_245dupAC	chr2.hg19:g.233498658_233498659dupAC	ENSP00000264059:p.Tyr81fs		B2RD83|E9PFH3|Q9BTF8|Q9H8I2|Q9HBQ0	Frame_Shift_Ins	INS	ENST00000264059.3	hg19	CCDS2497.1																																																																																				0.708	EFHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257040.2	NM_025202		AC	233498656	-	AC	233498655	7	5	665	1	0	1	1	0	0	0	0	0	4950	1522	53	0	243	0	EFHD1	2	233498655	Frame_Shift_Ins	INS	-	TCGA-GL-A59T-01A-21D-A28G-10	17266063	233498655	9700718	15	36272											
CNTN4	152330	hgsc.bcm.edu	37	3	3080674	3080675	+	Frame_Shift_Ins	INS	-	-	TA			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr3:3080674_3080675insTA	ENST00000397461.1	+	18	2534_2535	c.2150_2151insTA	c.(2149-2154)gttatafs	p.VI717fs	CNTN4_ENST00000427331.1_Frame_Shift_Ins_p.VI717fs|CNTN4_ENST00000418658.1_Frame_Shift_Ins_p.VI717fs|CNTN4_ENST00000358480.3_Frame_Shift_Ins_p.VI498fs|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000397459.2_Frame_Shift_Ins_p.VI389fs|CNTN4_ENST00000448906.2_Frame_Shift_Ins_p.VI389fs	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	717	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TCTGAACTGGTTATAACCTGGG	0.45																																																0																																										SO:0001589	frameshift_variant	152330			AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.2153_2154dupTA	chr3.hg19:g.3080677_3080678dupTA	ENSP00000380602:p.Val717fs		B2RAX3|Q8IX14|Q8TC35	Frame_Shift_Ins	INS	ENST00000397461.1	hg19	CCDS43041.1																																																																																				0.45	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			TA	3080675	-	TA	3080674	7	5	665	1	0	1	1	0	0	0	0	0	3645	1725	60	0	2212	0	CNTN4	3	3080674	Frame_Shift_Ins	INS	-	TCGA-GL-A59T-01A-21D-A28G-10		3080674	194941756	16	36273											
FBXL2	25827	hgsc.bcm.edu	37	3	33415410	33415410	+	Silent	SNP	C	C	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr3:33415410C>T	ENST00000484457.1	+	9	745	c.654C>T	c.(652-654)tgC>tgT	p.C218C	FBXL2_ENST00000283627.6_3'UTR|FBXL2_ENST00000538892.1_Silent_p.C150C|FBXL2_ENST00000446237.3_5'UTR|FBXL2_ENST00000507198.1_Silent_p.C150C|FBXL2_ENST00000542085.1_5'UTR|FBXL2_ENST00000538181.1_Silent_p.C134C	NM_012157.3	NP_036289.3			F-box and leucine-rich repeat protein 2											endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						TGCAGTCCTGCTCAGTAAGTA	0.498																																																0													152	145	147					3																	33415410		2203	4300	6503	SO:0001819	synonymous_variant	25827			AF174589	CCDS2658.1, CCDS54560.1	3p22.3	2011-06-09			ENSG00000153558	ENSG00000153558		"F-boxes / Leucine-rich repeats"	13598	protein-coding gene	gene with protein product		605652				10508920, 10531035	Standard	NM_012157		Approved	FBL2, FBL3	uc003cfp.3	Q9UKC9	OTTHUMG00000130745	ENST00000484457.1:c.654C>T	chr3.hg19:g.33415410C>T				Silent	SNP	ENST00000484457.1	hg19	CCDS2658.1																																																																																				0.498	FBXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253245.2	NM_012157		T	33415410	C	T	33415410	2	4	665	1	0	0	0	0	0	0	0	1	5718	805	28	2		2	FBXL2	3	33415410	Silent	SNP	C	TCGA-GL-A59T-01A-21D-A28G-10	30334736	33415410	164607020	17	36274											
PARP14	54625	hgsc.bcm.edu	37	3	122437696	122437696	+	Silent	SNP	A	A	G	rs377210300		TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr3:122437696A>G	ENST00000474629.2	+	14	4964	c.4698A>G	c.(4696-4698)acA>acG	p.T1566T	PARP14_ENST00000475640.1_3'UTR	NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1566	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		AGAAAAAAACAGTTGATGTCA	0.373																																																0								A		0,3790		0,0,1895	88	87	87		4698	-5.7	0	3		87	1,8247		0,1,4123	no	coding-synonymous	PARP14	NM_017554.2		0,1,6018	GG,GA,AA		0.0121,0.0,0.0083		1566/1802	122437696	1,12037	1895	4124	6019	SO:0001819	synonymous_variant	54625			AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"Poly (ADP-ribose) polymerases"	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.4698A>G	chr3.hg19:g.122437696A>G			B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Silent	SNP	ENST00000474629.2	hg19	CCDS46894.1																																																																																				0.373	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554		G	122437696	A	G	122437696	2	3	665	1	0	0	0	0	0	0	0	1	11460	175	7	3		3	PARP14	3	122437696	Silent	SNP	A	TCGA-GL-A59T-01A-21D-A28G-10	89022286	122437696	75584734	18	36275											
NDUFB5	4711	hgsc.bcm.edu	37	3	179322636	179322636	+	Silent	SNP	G	G	A			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr3:179322636G>A	ENST00000259037.3	+	1	147	c.33G>A	c.(31-33)tcG>tcA	p.S11S	MRPL47_ENST00000259038.2_5'Flank|NDUFB5_ENST00000493866.1_Silent_p.S11S|MRPL47_ENST00000476781.1_5'Flank|MRPL47_ENST00000392659.2_5'Flank|NDUFB5_ENST00000472629.1_Silent_p.S11S	NM_002492.3	NP_002483.1	O43674	NDUB5_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa	11					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)			GGCGGGTTTCGGTTACTGCGG	0.617																																																0													36	36	36					3																	179322636		2203	4300	6503	SO:0001819	synonymous_variant	4711			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.33G>A	chr3.hg19:g.179322636G>A			Q561V6	Silent	SNP	ENST00000259037.3	hg19	CCDS3234.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.903796	0.52333	.	.	ENSG00000136521	ENST00000482604	.	.	.	5.75	1.95	0.26073	.	.	.	.	.	T	0.56093	0.1962	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48340	-0.9044	5	0.40728	T	0.16	-3.1698	6.2744	0.20973	0.2212:0.1325:0.6463:0.0	.	.	.	.	Q	8	.	ENSP00000419099:R3Q	R	+	2	0	NDUFB5	180805330	0.998000	0.40836	0.993000	0.49108	0.016000	0.09150	0.145000	0.16157	0.148000	0.19059	-0.133000	0.14855	CGG		0.617	NDUFB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348937.2	NM_002492		A	179322636	G	A	179322636	2	1	665	1	0	0	0	0	0	0	0	1	10286	1103	39	1		1	NDUFB5	3	179322636	Silent	SNP	G	TCGA-GL-A59T-01A-21D-A28G-10	56884940	179322636	18699794	19	36276											
KLHL6	89857	hgsc.bcm.edu	37	3	183226047	183226047	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr3:183226047C>T	ENST00000341319.3	-	3	744	c.709G>A	c.(709-711)Gag>Aag	p.E237K		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	237	BACK.				B cell receptor signaling pathway (GO:0050853)|germinal center formation (GO:0002467)					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)			ATCACGGTCTCAAACACCTGa	0.547																																																0													135	114	121					3																	183226047		2203	4300	6503	SO:0001583	missense	89857			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.709G>A	chr3.hg19:g.183226047C>T	ENSP00000341342:p.Glu237Lys		B2RB31|D3DNS8|Q8N5I1|Q8N892	Missense_Mutation	SNP	ENST00000341319.3	hg19	CCDS3245.2	.	.	.	.	.	.	.	.	.	.	C	36	5.904004	0.97087	.	.	ENSG00000172578	ENST00000341319	T	0.69685	-0.42	5.87	5.87	0.94306	BTB/Kelch-associated (2);	0.043908	0.85682	D	0.000000	D	0.83083	0.5177	M	0.79343	2.45	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.82400	-0.0476	10	0.54805	T	0.06	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	237	Q8WZ60	KLHL6_HUMAN	K	237	ENSP00000341342:E237K	ENSP00000341342:E237K	E	-	1	0	KLHL6	184708741	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.445000	0.80570	2.941000	0.99782	0.655000	0.94253	GAG		0.547	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309024.1	NM_130446		T	183226047	C	T	183226047	3	4	665	1	0	0	0	0	1	0	0	0	8395	835	29	2	1176	2	KLHL6	3	183226047	Missense_Mutation	SNP	C	TCGA-GL-A59T-01A-21D-A28G-10	3903411	183226047	14796383	20	36277											
TMPRSS11F	389208	hgsc.bcm.edu	37	4	68930403	68930403	+	Splice_Site	SNP	C	C	A			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr4:68930403C>A	ENST00000356291.2	-	8	1074	c.1015G>T	c.(1015-1017)Gga>Tga	p.G339*	RP11-35D5.1_ENST00000600441.1_RNA|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	339	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					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						AACTGCTCACCATCATCTACA	0.363																																																0													68	68	68					4																	68930403		2203	4300	6503	SO:0001630	splice_region_variant	389208			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.1015+1G>T	chr4.hg19:g.68930403C>A			A8MXX2	Nonsense_Mutation	SNP	ENST00000356291.2	hg19	CCDS3520.1	.	.	.	.	.	.	.	.	.	.	C	37	6.372005	0.97515	.	.	ENSG00000198092	ENST00000356291	.	.	.	5.92	5.92	0.95590	.	0.000000	0.53938	D	0.000048	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8344	0.78787	0.0:1.0:0.0:0.0	.	.	.	.	X	339	.	.	G	-	1	0	TMPRSS11F	68612998	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	4.819000	0.62664	2.822000	0.97130	0.650000	0.86243	GGA		0.363	TMPRSS11F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251439.1	NM_207407	Nonsense_Mutation	A	68930403	C	A	68930403	5	1	665	1	0	0	0	0	0	0	1	0	16248	608	21	4	313	4	TMPRSS11F	4	68930403	Splice_Site	SNP	C	TCGA-GL-A59T-01A-21D-A28G-10		68930403	122223873	21	36278											
SLC12A7	10723	hgsc.bcm.edu	37	5	1093744	1093744	+	Silent	SNP	C	C	A			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr5:1093744C>A	ENST00000264930.5	-	3	289	c.246G>T	c.(244-246)gtG>gtT	p.V82V		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	82					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)	GCAGCGAGGACACCATGGGGT	0.682																																																0													111	75	87					5																	1093744		2202	4299	6501	SO:0001819	synonymous_variant	10723			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.246G>T	chr5.hg19:g.1093744C>A			A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Silent	SNP	ENST00000264930.5	hg19	CCDS34129.1																																																																																				0.682	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		A	1093744	C	A	1093744	2	1	665	1	0	0	0	0	0	0	0	1	14394	465	17	4		4	SLC12A7	5	1093744	Silent	SNP	C	TCGA-GL-A59T-01A-21D-A28G-10		1093744	179821516	22	36279											
NSD1	64324	hgsc.bcm.edu	37	5	176562915	176562915	+	Missense_Mutation	SNP	T	T	G	rs374083142		TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr5:176562915T>G	ENST00000439151.2	+	2	856	c.811T>G	c.(811-813)Tta>Gta	p.L271V	NSD1_ENST00000354179.4_Intron|NSD1_ENST00000347982.4_Intron|NSD1_ENST00000361032.4_Missense_Mutation_p.L271V|NSD1_ENST00000511258.1_Intron	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	271					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)		AGAAGAGCAATTAAACTCAAT	0.383			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																													Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													66	67	67					5																	176562915		2203	4300	6503	SO:0001583	missense	64324	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.811T>G	chr5.hg19:g.176562915T>G	ENSP00000395929:p.Leu271Val		Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	hg19	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	T	12.12	1.841288	0.32513	.	.	ENSG00000165671	ENST00000439151;ENST00000361032	D;D	0.94576	-3.23;-3.46	5.19	5.19	0.71726	.	0.186195	0.26485	N	0.024119	D	0.88633	0.6489	N	0.14661	0.345	0.80722	D	1	B;B;B	0.30634	0.288;0.19;0.137	B;B;B	0.30572	0.117;0.055;0.051	D	0.88112	0.2826	10	0.72032	D	0.01	.	12.6728	0.56876	0.0:0.0:0.0:1.0	.	271;271;271	Q96L73-3;Q96L73;Q6PJ64	.;NSD1_HUMAN;.	V	271	ENSP00000395929:L271V;ENSP00000354310:L271V	ENSP00000354310:L271V	L	+	1	2	NSD1	176495521	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.025000	0.57225	2.189000	0.69895	0.533000	0.62120	TTA		0.383	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		G	176562915	T	G	176562915	3	3	665	1	0	0	0	0	1	0	0	0	10671	1490	52	5	813	5	NSD1	5	176562915	Missense_Mutation	SNP	T	TCGA-GL-A59T-01A-21D-A28G-10	175469171	176562915	4352345	23	36280											
MRPS10	55173	hgsc.bcm.edu	37	6	42176601	42176601	+	Missense_Mutation	SNP	T	T	A			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr6:42176601T>A	ENST00000053468.3	-	6	532	c.517A>T	c.(517-519)Aca>Tca	p.T173S		NM_018141.3	NP_060611.2	P82664	RT10_HUMAN	mitochondrial ribosomal protein S10	173						mitochondrion (GO:0005739)|ribosome (GO:0005840)				endometrium(1)|lung(1)	2	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00528)			TATACCTTTGTTACTTCCATG	0.443																																																0													103	98	100					6																	42176601		2203	4300	6503	SO:0001583	missense	55173				CCDS4866.1	6p21.1	2012-09-13			ENSG00000048544	ENSG00000048544		"Mitochondrial ribosomal proteins / small subunits"	14502	protein-coding gene	gene with protein product		611976				11279123	Standard	NM_018141		Approved	FLJ10567	uc003osa.4	P82664	OTTHUMG00000014694	ENST00000053468.3:c.517A>T	chr6.hg19:g.42176601T>A	ENSP00000053468:p.Thr173Ser		B2RE89|Q9H3E5|Q9NVR3	Missense_Mutation	SNP	ENST00000053468.3	hg19	CCDS4866.1	.	.	.	.	.	.	.	.	.	.	T	19.87	3.906883	0.72868	.	.	ENSG00000048544	ENST00000053468	.	.	.	5.78	5.78	0.91487	.	0.094475	0.64402	D	0.000001	T	0.49047	0.1534	L	0.41415	1.275	0.46901	D	0.999243	D	0.53462	0.96	P	0.52454	0.699	T	0.46456	-0.9190	9	0.32370	T	0.25	-7.8115	15.0972	0.72244	0.0:0.0:0.0:1.0	.	173	P82664	RT10_HUMAN	S	173	.	ENSP00000053468:T173S	T	-	1	0	MRPS10	42284579	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	7.043000	0.76572	2.200000	0.70718	0.460000	0.39030	ACA		0.443	MRPS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040547.1			A	42176601	T	A	42176601	3	1	665	1	0	0	0	0	1	0	0	0	9823	1725	60	5	96	5	MRPS10	6	42176601	Missense_Mutation	SNP	T	TCGA-GL-A59T-01A-21D-A28G-10		42176601	128938466	24	36281											
EEF1A1	1915	hgsc.bcm.edu	37	6	74227601	74227601	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr6:74227601C>T	ENST00000316292.9	-	7	2312	c.1321G>A	c.(1321-1323)Gtg>Atg	p.V441M	EEF1A1_ENST00000491404.1_Intron|EEF1A1_ENST00000331523.2_Missense_Mutation_p.V441M|EEF1A1_ENST00000309268.6_Missense_Mutation_p.V441M	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	441					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						TTCTTGTCCACTGCTTTGATG	0.443											OREG0003893	type=REGULATORY REGION|Gene=BC038897|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																				0													29	30	30					6																	74227601		2203	4296	6499	SO:0001583	missense	1915			BC019669	CCDS4980.1	6q14.1	2010-06-30	2004-11-19		ENSG00000156508	ENSG00000156508			3189	protein-coding gene	gene with protein product		130590	"leukocyte receptor cluster (LRC) member 7"	EF1A, EEF1A, LENG7		8812466, 10941842	Standard	NM_001402		Approved	EE1A1	uc003phj.3	P68104	OTTHUMG00000015031	ENST00000316292.9:c.1321G>A	chr6.hg19:g.74227601C>T	ENSP00000339063:p.Val441Met	1151	P04719|P04720|Q6IQ15	Missense_Mutation	SNP	ENST00000316292.9	hg19	CCDS4980.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.352587	0.82132	.	.	ENSG00000156508	ENST00000316292;ENST00000309268;ENST00000331523;ENST00000391977	T;T;T	0.52526	0.66;0.66;0.66	4.81	4.81	0.61882	Translation elongation factor EF1A/initiation factor IF2gamma, C-terminal (2);Translation elongation factor EFTu/EF1A, C-terminal (2);	0.072938	0.53938	U	0.000048	T	0.68229	0.2978	H	0.94462	3.54	0.80722	D	1	D;D;D	0.55172	0.97;0.97;0.97	P;P;P	0.54590	0.756;0.756;0.756	T	0.79850	-0.1629	10	0.87932	D	0	.	18.3119	0.90203	0.0:1.0:0.0:0.0	.	441;441;441	P68104;Q6IPS9;Q5VTE0	EF1A1_HUMAN;.;EF1A3_HUMAN	M	441;441;441;420	ENSP00000339063:V441M;ENSP00000339053:V441M;ENSP00000330054:V441M	ENSP00000339053:V441M	V	-	1	0	EEF1A1	74284322	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.405000	0.80007	2.381000	0.81170	0.556000	0.70494	GTG		0.443	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041210.2	NM_001402		T	74227601	C	T	74227601	3	4	665	1	0	0	0	0	1	0	0	0	4925	565	20	2	71	2	EEF1A1	6	74227601	Missense_Mutation	SNP	C	TCGA-GL-A59T-01A-21D-A28G-10	32051000	74227601	96887466	25	36282											
RIPPLY2	134701	hgsc.bcm.edu	37	6	84563845	84563845	+	Silent	SNP	C	C	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr6:84563845C>T	ENST00000369689.1	+	3	355	c.204C>T	c.(202-204)gcC>gcT	p.A68A	RIPPLY2_ENST00000369687.1_Silent_p.A10A	NM_001009994.1	NP_001009994.1	Q5TAB7	RIPP2_HUMAN	ripply transcriptional repressor 2	68					bone morphogenesis (GO:0060349)|determination of left/right symmetry (GO:0007368)|Notch signaling pathway (GO:0007219)|ossification (GO:0001503)|post-anal tail morphogenesis (GO:0036342)|regulation of gene expression (GO:0010468)|somite rostral/caudal axis specification (GO:0032525)|somitogenesis (GO:0001756)	nucleus (GO:0005634)				large_intestine(2)|lung(4)|urinary_tract(1)	7						TGACCGCAGCCTCAGGAAAGC	0.592																																																0													102	96	98					6																	84563845		2203	4300	6503	SO:0001819	synonymous_variant	134701			BC130460	CCDS34493.1	6q14.2	2013-07-23	2013-07-23	2008-05-07	ENSG00000203877	ENSG00000203877			21390	protein-coding gene	gene with protein product		609891	"chromosome 6 open reading frame 159", "ripply2 homolog (zebrafish)"	C6orf159			Standard	NM_001009994		Approved	dJ237I15.1	uc003pke.3	Q5TAB7	OTTHUMG00000015117	ENST00000369689.1:c.204C>T	chr6.hg19:g.84563845C>T			Q5TAB6	Silent	SNP	ENST00000369689.1	hg19	CCDS34493.1																																																																																				0.592	RIPPLY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041360.1	NM_001009994		T	84563845	C	T	84563845	2	4	665	1	0	0	0	0	0	0	0	1	13391	668	24	2		2	RIPPLY2	6	84563845	Silent	SNP	C	TCGA-GL-A59T-01A-21D-A28G-10	10336244	84563845	86551222	26	36283											
IGF2R	3482	hgsc.bcm.edu	37	6	160494272	160494272	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr6:160494272delG	ENST00000356956.1	+	34	4866	c.4718delG	c.(4717-4719)agcfs	p.S1573fs		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1573					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	ACCAGGATTAGCGTGGGCAAG	0.547																																																0													146	128	134					6																	160494272		2203	4300	6503	SO:0001589	frameshift_variant	3482			J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"CD molecules"	5467	protein-coding gene	gene with protein product	"cation-independent mannose-6 phosphate receptor"	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.4718delG	chr6.hg19:g.160494272delG	ENSP00000349437:p.Ser1573fs		Q7Z7G9|Q96PT5	Frame_Shift_Del	DEL	ENST00000356956.1	hg19	CCDS5273.1																																																																																				0.547	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		-	160494272	G	-	160494272	7	5	665	1	0	1	0	1	0	0	0	0	7578	971	34	0	4852	0	IGF2R	6	160494272	Frame_Shift_Del	DEL	G	TCGA-GL-A59T-01A-21D-A28G-10	75930427	160494272	10620795	27	36284											
GATAD1	57798	hgsc.bcm.edu	37	7	92083893	92083893	+	Silent	SNP	A	A	G			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr7:92083893A>G	ENST00000287957.3	+	4	790	c.513A>G	c.(511-513)agA>agG	p.R171R	AC007566.10_ENST00000427458.1_RNA	NM_021167.4	NP_066990.3	Q8WUU5	GATD1_HUMAN	GATA zinc finger domain containing 1	171						nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|lung(3)	6	all_cancers(62;1.63e-10)|all_epithelial(64;8.33e-10)|Breast(17;0.00311)|all_lung(186;0.0498)|Lung NSC(181;0.0676)		STAD - Stomach adenocarcinoma(171;4.51e-05)|GBM - Glioblastoma multiforme(5;8.83e-05)|all cancers(6;0.000136)|Lung(22;0.123)|Epithelial(20;0.179)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTCAAATCAGAGGTTTTATCC	0.458																																																0													193	183	186					7																	92083893		2203	4300	6503	SO:0001819	synonymous_variant	57798				CCDS5625.1	7q21-q22	2014-09-17			ENSG00000157259	ENSG00000157259		"GATA zinc finger domain containing"	29941	protein-coding gene	gene with protein product	"ocular development associated gene"	614518				12062807	Standard	NM_021167		Approved	ODAG, RG083M05.2, FLJ22489	uc003ulx.2	Q8WUU5	OTTHUMG00000131201	ENST00000287957.3:c.513A>G	chr7.hg19:g.92083893A>G			B2RE37|D6W5Q5|Q8N5Y5|Q99995|Q9H689	Silent	SNP	ENST00000287957.3	hg19	CCDS5625.1																																																																																				0.458	GATAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253929.2	NM_021167		G	92083893	A	G	92083893	2	3	665	1	0	0	0	0	0	0	0	1	6261	301	11	3		3	GATAD1	7	92083893	Silent	SNP	A	TCGA-GL-A59T-01A-21D-A28G-10		92083893	67054770	28	36285											
PDK4	5166	hgsc.bcm.edu	37	7	95217131	95217131	+	Missense_Mutation	SNP	T	T	C			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr7:95217131T>C	ENST00000005178.5	-	8	975	c.778A>G	c.(778-780)Atg>Gtg	p.M260V		NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase, isozyme 4	260	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				cellular metabolic process (GO:0044237)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|negative regulation of anoikis (GO:2000811)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|reactive oxygen species metabolic process (GO:0072593)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of bone resorption (GO:0045124)|regulation of cellular ketone metabolic process (GO:0010565)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose metabolic process (GO:0010906)|regulation of pH (GO:0006885)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|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)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			GTTGCCCGCATTGCATTCTAA	0.363																																																0													74	74	74					7																	95217131		2203	4300	6503	SO:0001583	missense	5166			U54617	CCDS5643.1	7q21.3-q22.1	2008-07-18	2005-11-16		ENSG00000004799	ENSG00000004799			8812	protein-coding gene	gene with protein product		602527	"pyruvate dehydrogenase kinase, isoenzyme 4"			7499431	Standard	NM_002612		Approved		uc003uoa.3	Q16654	OTTHUMG00000153977	ENST00000005178.5:c.778A>G	chr7.hg19:g.95217131T>C	ENSP00000005178:p.Met260Val			Missense_Mutation	SNP	ENST00000005178.5	hg19	CCDS5643.1	.	.	.	.	.	.	.	.	.	.	T	16.21	3.058332	0.55325	.	.	ENSG00000004799	ENST00000005178;ENST00000542888	T	0.46451	0.87	5.34	5.34	0.76211	Signal transduction histidine kinase, core (1);ATPase-like, ATP-binding domain (4);	0.000000	0.85682	D	0.000000	T	0.54431	0.1858	L	0.41027	1.25	0.80722	D	1	D	0.56968	0.978	D	0.64237	0.923	T	0.57705	-0.7765	10	0.87932	D	0	.	15.6388	0.76977	0.0:0.0:0.0:1.0	.	260	Q16654	PDK4_HUMAN	V	260;224	ENSP00000005178:M260V	ENSP00000005178:M260V	M	-	1	0	PDK4	95055067	1.000000	0.71417	1.000000	0.80357	0.357000	0.29423	4.977000	0.63792	2.154000	0.67381	0.482000	0.46254	ATG		0.363	PDK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333298.1	NM_002612		C	95217131	T	C	95217131	3	2	665	1	0	0	0	0	1	0	0	0	11680	1493	52	3	473	3	PDK4	7	95217131	Missense_Mutation	SNP	T	TCGA-GL-A59T-01A-21D-A28G-10	3133238	95217131	63921532	29	36286											
KIF13B	23303	hgsc.bcm.edu	37	8	28984648	28984650	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	CTC	CTC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr8:28984648_28984650delCTC	ENST00000524189.1	-	25	3249_3251	c.3211_3213delGAG	c.(3211-3213)gagdel	p.E1071del	CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1071					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)		CATGGAAGGTCTCATGTGTTCTG	0.424																																																0																																										SO:0001651	inframe_deletion	23303			AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"Kinesins"	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.3211_3213delGAG	chr8.hg19:g.28984648_28984650delCTC	ENSP00000427900:p.Glu1071del		B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	In_Frame_Del	DEL	ENST00000524189.1	hg19	CCDS55217.1																																																																																				0.424	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1			-	28984650	CTC	-	28984648	7	5	665	1	0	1	0	1	0	0	0	0	8277	912	32	0	2331	0	KIF13B	8	28984648	In_Frame_Del	DEL	CTC	TCGA-GL-A59T-01A-21D-A28G-10		28984648	117379374	30	36287	269	2									
KIF13B	23303	hgsc.bcm.edu	37	8	28984652	28984654	+	In_Frame_Del	DEL	TGT	TGT	-	rs536929811		TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	TGT	TGT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr8:28984652_28984654delTGT	ENST00000524189.1	-	25	3245_3247	c.3207_3209delACA	c.(3205-3210)acacat>act	p.H1070del	CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1070					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)		GAAGGTCTCATGTGTTCTGGGGG	0.429																																																0																																										SO:0001651	inframe_deletion	23303			AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"Kinesins"	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.3207_3209delACA	chr8.hg19:g.28984652_28984654delTGT	ENSP00000427900:p.His1070del		B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	In_Frame_Del	DEL	ENST00000524189.1	hg19	CCDS55217.1																																																																																				0.429	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1			-	28984654	TGT	-	28984652	7	5	665	1	0	1	0	1	0	0	0	0	8277	1464	51	0	2335	0	KIF13B	8	28984652	In_Frame_Del	DEL	TGT	TCGA-GL-A59T-01A-21D-A28G-10	4	28984652	117379370	31	36288	269	2									
WHSC1L1	54904	hgsc.bcm.edu	37	8	38175506	38175506	+	Intron	SNP	C	C	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr8:38175506C>T	ENST00000317025.8	-	9	2373				WHSC1L1_ENST00000525081.1_5'UTR|WHSC1L1_ENST00000316985.3_Missense_Mutation_p.V636I|WHSC1L1_ENST00000527502.1_Intron|WHSC1L1_ENST00000433384.2_Intron	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1						histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			GCTGCGGAGACGGAGCTGTCA	0.537			T	NUP98	AML																																		Dom	yes		8	8p12	54904	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)		L	0													90	82	85					8																	38175506		2203	4300	6503	SO:0001627	intron_variant	54904			AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.1855+906G>A	chr8.hg19:g.38175506C>T			B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Missense_Mutation	SNP	ENST00000317025.8	hg19	CCDS43729.1	.	.	.	.	.	.	.	.	.	.	C	15.44	2.835251	0.50951	.	.	ENSG00000147548	ENST00000316985	T	0.64438	-0.1	6.17	5.29	0.74685	.	.	.	.	.	T	0.50752	0.1634	.	.	.	0.21499	N	0.999666	B	0.14805	0.011	B	0.10450	0.005	T	0.33033	-0.9884	8	0.40728	T	0.16	.	11.9912	0.53176	0.0:0.9189:0.0:0.0811	.	636	Q9BZ95-3	.	I	636	ENSP00000313410:V636I	ENSP00000313410:V636I	V	-	1	0	WHSC1L1	38294663	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.355000	0.44107	2.941000	0.99782	0.655000	0.94253	GTC		0.537	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034		T	38175506	C	T	38175506	1	4	665	0	1	0	0	0	0	0	0	0	17368	536	19	1		1	WHSC1L1	8	38175506	Intron	SNP	C	TCGA-GL-A59T-01A-21D-A28G-10	9190854	38175506	108188516	32	36289											
JAK2	3717	hgsc.bcm.edu	37	9	5126752	5126752	+	Silent	SNP	T	T	C			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr9:5126752T>C	ENST00000381652.3	+	25	3854	c.3360T>C	c.(3358-3360)gcT>gcC	p.A1120A	JAK2_ENST00000544510.1_Silent_p.A971A|JAK2_ENST00000487310.1_3'UTR|JAK2_ENST00000539801.1_Silent_p.A1120A	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	1120	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|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 activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	GGGATCTAGCTCTTCGAGTGG	0.348		1	"T, Mis, O"	"ETV6, PCM1, BCR"	"ALL, AML, MPD,  CML"				Polycythemia Vera, Familial																														Dom	yes		9	9p24	3717	Janus kinase 2		L	0													79	74	76					9																	5126752		2203	4299	6502	SO:0001819	synonymous_variant	3717	Familial Cancer Database			CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"SH2 domain containing"	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.3360T>C	chr9.hg19:g.5126752T>C			O14636|O75297	Silent	SNP	ENST00000381652.3	hg19	CCDS6457.1																																																																																				0.348	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1			C	5126752	T	C	5126752	2	2	665	1	0	0	0	0	0	0	0	1	7940	1538	54	3		3	JAK2	9	5126752	Silent	SNP	T	TCGA-GL-A59T-01A-21D-A28G-10		5126752	136086679	33	36290											
DAPK1	1612	hgsc.bcm.edu	37	9	90321821	90321821	+	Missense_Mutation	SNP	T	T	G			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr9:90321821T>G	ENST00000408954.3	+	26	4170	c.3835T>G	c.(3835-3837)Ttc>Gtc	p.F1279V	DAPK1_ENST00000491893.1_Missense_Mutation_p.F1213V|DAPK1_ENST00000358077.5_Missense_Mutation_p.F1279V|DAPK1_ENST00000469640.2_Missense_Mutation_p.F1304V|DAPK1_ENST00000472284.1_Missense_Mutation_p.F1279V	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	1279					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						CAAGGAAAGCTTCAGCAGCAT	0.567									Chronic Lymphocytic Leukemia, Familial Clustering of																																							0													54	62	60					9																	90321821		2131	4237	6368	SO:0001583	missense	1612	Familial Cancer Database	Familial CLL	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.3835T>G	chr9.hg19:g.90321821T>G	ENSP00000386135:p.Phe1279Val		B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP	ENST00000408954.3	hg19	CCDS43842.1	.	.	.	.	.	.	.	.	.	.	T	18.91	3.723375	0.68959	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	T;T;T;T;T	0.63255	0.05;0.05;0.03;0.05;-0.03	5.66	5.66	0.87406	.	0.000000	0.56097	D	0.000040	T	0.77552	0.4147	M	0.66939	2.045	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.998	D;D;D	0.83275	0.987;0.996;0.987	T	0.77534	-0.2552	10	0.45353	T	0.12	.	16.2026	0.82095	0.0:0.0:0.0:1.0	.	1213;1279;1279	B7ZLE7;P53355-3;P53355	.;.;DAPK1_HUMAN	V	1279;1279;1304;1279;1213	ENSP00000350785:F1279V;ENSP00000417076:F1279V;ENSP00000418885:F1304V;ENSP00000386135:F1279V;ENSP00000419026:F1213V	ENSP00000350785:F1279V	F	+	1	0	DAPK1	89511641	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.997000	0.88414	2.285000	0.76669	0.533000	0.62120	TTC		0.567	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938		G	90321821	T	G	90321821	3	3	665	1	0	0	0	0	1	0	0	0	4237	1609	56	5	3933	5	DAPK1	9	90321821	Missense_Mutation	SNP	T	TCGA-GL-A59T-01A-21D-A28G-10	85195069	90321821	50891610	34	36291											
RAPGEF1	2889	hgsc.bcm.edu	37	9	134505712	134505712	+	Splice_Site	SNP	C	C	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr9:134505712C>T	ENST00000372189.3	-	6	724		c.e6-1		RAPGEF1_ENST00000372190.3_Splice_Site|RAPGEF1_ENST00000481260.1_Intron|RAPGEF1_ENST00000372195.1_Splice_Site	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1						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)		TGACCAGCTCCTACCCCCACA	0.592																																																0													57	65	62					9																	134505712		2074	4208	6282	SO:0001630	splice_region_variant	2889			BC041710	CCDS48047.1	9q34.3	2008-02-05	2004-03-01	2004-03-02	ENSG00000107263	ENSG00000107263			4568	protein-coding gene	gene with protein product		600303	"guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)"	GRF2		7959692, 7512734	Standard	NM_005312		Approved	C3G	uc022bos.1	Q13905	OTTHUMG00000020829	ENST00000372189.3:c.601-1G>A	chr9.hg19:g.134505712C>T			Q5JUE4|Q8IV73	Splice_Site	SNP	ENST00000372189.3	hg19	CCDS48047.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.006457	0.74932	.	.	ENSG00000107263	ENST00000266110;ENST00000372195;ENST00000429421;ENST00000372189;ENST00000372190;ENST00000411834;ENST00000337036;ENST00000357686	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0057	0.80362	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RAPGEF1	133495533	1.000000	0.71417	0.996000	0.52242	0.758000	0.43043	6.814000	0.75236	2.549000	0.85964	0.655000	0.94253	.		0.592	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054759.2	NM_005312	Intron	T	134505712	C	T	134505712	5	4	665	1	0	0	0	0	0	0	1	0	13049	695	24	2	2709	2	RAPGEF1	9	134505712	Splice_Site	SNP	C	TCGA-GL-A59T-01A-21D-A28G-10	44183891	134505712	6707719	35	36292											
KIN	22944	hgsc.bcm.edu	37	10	7811178	7811178	+	Splice_Site	SNP	C	C	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr10:7811178C>T	ENST00000379562.4	-	8	846		c.e8+1		KIN_ENST00000535925.1_Splice_Site|KIN_ENST00000543003.1_Splice_Site|KIN_ENST00000463666.1_5'Flank	NM_012311.3	NP_036443.1			Kin17 DNA and RNA binding protein											endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						ATAAACTGTACCTCCATGATT	0.343																																																0													99	99	99					10																	7811178		2203	4300	6503	SO:0001630	splice_region_variant	22944			AJ005273	CCDS7080.1	10p15-p14	2014-07-15	2014-07-15		ENSG00000151657	ENSG00000151657			6327	protein-coding gene	gene with protein product		601720	"antigenic determinant of recA protein (mouse) homolog", "KIN, antigenic determinant of recA protein homolog (mouse)"			1923796, 24140279	Standard	NM_012311		Approved	KIN17, Rts2	uc001ijt.3	O60870	OTTHUMG00000017634	ENST00000379562.4:c.798+1G>A	chr10.hg19:g.7811178C>T				Splice_Site	SNP	ENST00000379562.4	hg19	CCDS7080.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.955761	0.73902	.	.	ENSG00000151657	ENST00000535925;ENST00000379562;ENST00000543003	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.75	0.85483	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIN	7851184	1.000000	0.71417	0.995000	0.50966	0.891000	0.51852	5.846000	0.69444	2.363000	0.80096	0.650000	0.86243	.		0.343	KIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046683.2	NM_012311	Intron	T	7811178	C	T	7811178	5	4	665	1	0	0	0	0	0	0	1	0	8317	521	18	2	406	2	KIN	10	7811178	Splice_Site	SNP	C	TCGA-GL-A59T-01A-21D-A28G-10		7811178	127723569	36	36293											
OAT	4942	hgsc.bcm.edu	37	10	126100644	126100644	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr10:126100644delT	ENST00000368845.5	-	2	189	c.97delA	c.(97-99)acafs	p.T33fs	OAT_ENST00000539214.1_Intron	NM_000274.3	NP_000265.1	P04181	OAT_HUMAN	ornithine aminotransferase	33					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-proline biosynthetic process (GO:0055129)|protein hexamerization (GO:0034214)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ornithine-oxo-acid transaminase activity (GO:0004587)|pyridoxal phosphate binding (GO:0030170)			endometrium(2)|large_intestine(1)|lung(2)	5		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)			L-Ornithine(DB00129)	CCTTGGACTGTTTTTTTAGTT	0.433																																																0													88	81	83					10																	126100644		2203	4300	6503	SO:0001589	frameshift_variant	4942			BC016928	CCDS7639.1, CCDS53586.1	10q26	2014-09-17	2010-01-20		ENSG00000065154	ENSG00000065154	2.6.1.13		8091	protein-coding gene	gene with protein product	"Ornithine aminotransferase", "ornithine aminotransferase precursor", "gyrate atrophy"	613349				1682785	Standard	NM_000274		Approved	HOGA	uc001lhp.3	P04181	OTTHUMG00000019213	ENST00000368845.5:c.97delA	chr10.hg19:g.126100644delT	ENSP00000357838:p.Thr33fs		D3DRF0|Q16068|Q16069|Q68CS0|Q6IAV9|Q9UD03	Frame_Shift_Del	DEL	ENST00000368845.5	hg19	CCDS7639.1																																																																																				0.433	OAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050863.1	NM_000274		-	126100644	T	-	126100644	7	5	665	1	0	1	0	1	0	0	0	0	10805	1725	60	0	1258	0	OAT	10	126100644	Frame_Shift_Del	DEL	T	TCGA-GL-A59T-01A-21D-A28G-10	118289466	126100644	9434103	37	36294											
MUC2	4583	hgsc.bcm.edu	37	11	1093292	1093292	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr11:1093292C>T	ENST00000441003.2	+	30	5138	c.5111C>T	c.(5110-5112)aCc>aTc	p.T1704I	MUC2_ENST00000359061.5_Missense_Mutation_p.T1671I|MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000361558.6_Intron	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				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)	atcaccaccaccactacggtg	0.637																																																0													107	156	138					11																	1093292		1878	3453	5331	SO:0001583	missense	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.5111C>T	chr11.hg19:g.1093292C>T	ENSP00000415183:p.Thr1704Ile		Q14878	Missense_Mutation	SNP	ENST00000441003.2	hg19		.	.	.	.	.	.	.	.	.	.	C	2.150	-0.394632	0.04899	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.11063	2.81;2.84	1.6	-2.66	0.06077	.	2.760050	0.04005	U	0.297091	T	0.06416	0.0165	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.36286	-0.9754	9	0.36615	T	0.2	.	2.477	0.04578	0.4942:0.3128:0.0:0.1931	.	1704	E7EUV1	.	I	1704;1671	ENSP00000415183:T1704I;ENSP00000351956:T1671I	ENSP00000351956:T1671I	T	+	2	0	MUC2	1083292	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.330000	0.19715	-0.514000	0.06488	0.184000	0.17185	ACC		0.637	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		T	1093292	C	T	1093292	3	4	665	1	0	0	0	0	1	0	0	0	9977	507	18	2	5229	2	MUC2	11	1093292	Missense_Mutation	SNP	C	TCGA-GL-A59T-01A-21D-A28G-10		1093292	133913224	38	36295											
MPEG1	219972	hgsc.bcm.edu	37	11	58978564	58978564	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr11:58978564C>T	ENST00000361050.3	-	1	1860	c.1775G>A	c.(1774-1776)aGg>aAg	p.R592K		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	592						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)				AGGTGGGAGCCTGGCAGGGGG	0.582																																																0													87	97	93					11																	58978564		1945	4123	6068	SO:0001583	missense	219972			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.1775G>A	chr11.hg19:g.58978564C>T	ENSP00000354335:p.Arg592Lys		Q2M1T6|Q8TEF8	Missense_Mutation	SNP	ENST00000361050.3	hg19	CCDS41650.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.648686	0.47258	.	.	ENSG00000197629	ENST00000361050	T	0.23147	1.92	5.69	5.69	0.88448	.	0.109255	0.64402	D	0.000015	T	0.42154	0.1190	L	0.61387	1.9	0.34323	D	0.686779	D	0.60575	0.988	P	0.54759	0.76	T	0.52601	-0.8554	10	0.44086	T	0.13	-27.9243	16.7224	0.85413	0.0:1.0:0.0:0.0	.	592	Q2M385	MPEG1_HUMAN	K	592	ENSP00000354335:R592K	ENSP00000354335:R592K	R	-	2	0	MPEG1	58735140	0.678000	0.27586	1.000000	0.80357	0.942000	0.58702	0.292000	0.19011	2.682000	0.91365	0.655000	0.94253	AGG		0.582	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370027.1	NM_001039396		T	58978564	C	T	58978564	3	4	665	1	0	0	0	0	1	0	0	0	9725	681	24	2	379	2	MPEG1	11	58978564	Missense_Mutation	SNP	C	TCGA-GL-A59T-01A-21D-A28G-10	57885272	58978564	76027952	39	36296											
PYGM	5837	hgsc.bcm.edu	37	11	64517951	64517951	+	Missense_Mutation	SNP	T	T	A			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr11:64517951T>A	ENST00000164139.3	-	17	2472	c.2074A>T	c.(2074-2076)Acc>Tcc	p.T692S	PYGM_ENST00000462303.1_5'Flank|PYGM_ENST00000377432.3_Missense_Mutation_p.T604S	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	692					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCGTCCATGGTGCCAATGGTC	0.567																																																0													167	151	157					11																	64517951		2201	4297	6498	SO:0001583	missense	5837				CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"Glycogen phosphorylases"	9726	protein-coding gene	gene with protein product	"McArdle syndrome", "glycogen storage disease type V", "glycogen phosphorylase, muscle form"	608455	"phosphorylase, glycogen; muscle"				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.2074A>T	chr11.hg19:g.64517951T>A	ENSP00000164139:p.Thr692Ser		A0AVK1|A6NDY6	Missense_Mutation	SNP	ENST00000164139.3	hg19	CCDS8079.1	.	.	.	.	.	.	.	.	.	.	T	28.2	4.903517	0.92035	.	.	ENSG00000068976	ENST00000377432;ENST00000164139;ENST00000540450	D;D	0.95342	-3.68;-3.68	4.91	4.91	0.64330	.	0.000000	0.52532	D	0.000074	D	0.96895	0.8986	M	0.93854	3.465	0.80722	D	1	P;P	0.48407	0.91;0.91	P;P	0.52386	0.697;0.697	D	0.97609	1.0128	10	0.87932	D	0	-39.6172	12.5412	0.56172	0.0:0.0:0.0:1.0	.	604;692	A6NDY6;P11217	.;PYGM_HUMAN	S	604;692;673	ENSP00000366650:T604S;ENSP00000164139:T692S	ENSP00000164139:T692S	T	-	1	0	PYGM	64274527	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.832000	0.86757	2.073000	0.62155	0.454000	0.30748	ACC		0.567	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143254.2	NM_005609		A	64517951	T	A	64517951	3	1	665	1	0	0	0	0	1	0	0	0	12868	1696	59	5	470	5	PYGM	11	64517951	Missense_Mutation	SNP	T	TCGA-GL-A59T-01A-21D-A28G-10	5539387	64517951	70488565	40	36297											
NUMA1	4926	hgsc.bcm.edu	37	11	71733436	71733436	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr11:71733436delG	ENST00000393695.3	-	7	652	c.321delC	c.(319-321)accfs	p.T107fs	RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000351960.6_Frame_Shift_Del_p.T107fs|NUMA1_ENST00000358965.6_Frame_Shift_Del_p.T107fs	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						TGGAGCTCATGGTAGAGTGGT	0.517			T	RARA	APL																																		Dom	yes		11	11q13	4926	nuclear mitotic apparatus protein 1		L	0													155	158	157					11																	71733436		2200	4293	6493	SO:0001589	frameshift_variant	4926			Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.321delC	chr11.hg19:g.71733436delG	ENSP00000377298:p.Thr107fs			Frame_Shift_Del	DEL	ENST00000393695.3	hg19	CCDS31633.1																																																																																				0.517	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			-	71733436	G	-	71733436	7	5	665	1	0	1	0	1	0	0	0	0	10752	1335	47	0	6110	0	NUMA1	11	71733436	Frame_Shift_Del	DEL	G	TCGA-GL-A59T-01A-21D-A28G-10	7215485	71733436	63273080	41	36298											
CHCHD8	51287	hgsc.bcm.edu	37	11	73584202	73584202	+	Missense_Mutation	SNP	C	C	A			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr11:73584202C>A	ENST00000355693.4	-	2	469	c.222G>T	c.(220-222)gaG>gaT	p.E74D	COA4_ENST00000537289.1_Missense_Mutation_p.E74D|COA4_ENST00000541455.1_Missense_Mutation_p.E83D|COA4_ENST00000537581.1_5'Flank|COA4_ENST00000545127.1_Missense_Mutation_p.E74D	NM_016565.2	NP_057649.2	Q9NYJ1	COA4_HUMAN	cytochrome c oxidase assembly factor 4 homolog (S. cerevisiae)	74						mitochondrion (GO:0005739)											TCTGCAGCTCCTCTTGCCGCC	0.612																																																0													108	81	90					11																	73584202		2200	4293	6493	SO:0001583	missense	51287			AF242180	CCDS8225.1	11q13.4	2013-10-18	2012-10-15	2012-10-15		ENSG00000181924		"Coiled-coil-helix-coiled-coil-helix domain containing", "Mitochondrial respiratory chain complex assembly factors"	24604	protein-coding gene	gene with protein product		608016	"coiled-coil-helix-coiled-coil-helix domain containing 8"	CHCHD8		11085516, 20624914	Standard	NM_016565		Approved	E2IG2, CMC3	uc001ouj.3	Q9NYJ1		ENST00000355693.4:c.222G>T	chr11.hg19:g.73584202C>A	ENSP00000347919:p.Glu74Asp		B2RAA0|Q69YU4	Missense_Mutation	SNP	ENST00000355693.4	hg19	CCDS8225.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.273202	0.59649	.	.	ENSG00000181924	ENST00000355693;ENST00000545127;ENST00000541455;ENST00000537289	.	.	.	6.02	2.73	0.32206	.	0.000000	0.85682	D	0.000000	T	0.34048	0.0884	.	.	.	0.33160	D	0.546821	P	0.39665	0.682	B	0.34038	0.174	T	0.50890	-0.8774	8	0.59425	D	0.04	-24.9482	8.1718	0.31260	0.0:0.6617:0.0:0.3383	.	74	Q9NYJ1	CHCH8_HUMAN	D	74;74;83;74	.	ENSP00000347919:E74D	E	-	3	2	CHCHD8	73261850	0.857000	0.29778	0.996000	0.52242	0.388000	0.30384	0.299000	0.19138	0.879000	0.35944	0.655000	0.94253	GAG		0.612	COA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397878.1	NM_016565		A	73584202	C	A	73584202	3	1	665	1	0	0	0	0	1	0	0	0	3324	680	24	4	45	4	CHCHD8	11	73584202	Missense_Mutation	SNP	C	TCGA-GL-A59T-01A-21D-A28G-10	1850766	73584202	61422314	42	36299											
PRCP	5547	hgsc.bcm.edu	37	11	82560214	82560214	+	Silent	SNP	T	T	C			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr11:82560214T>C	ENST00000313010.3	-	6	992	c.798A>G	c.(796-798)ccA>ccG	p.P266P	PRCP_ENST00000393399.2_Silent_p.P287P|PRCP_ENST00000535099.1_Silent_p.P161P	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	266	SKS domain.				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						GAGAAGTTAATGGGCTGCATA	0.443																																																0													115	108	110					11																	82560214		2203	4300	6503	SO:0001819	synonymous_variant	5547			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.798A>G	chr11.hg19:g.82560214T>C			A8MU24|B2R7B7|B3KRK5|B5BU34	Silent	SNP	ENST00000313010.3	hg19	CCDS8262.1																																																																																				0.443	PRCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391792.1	NM_005040		C	82560214	T	C	82560214	2	2	665	1	0	0	0	0	0	0	0	1	12454	1451	51	3		3	PRCP	11	82560214	Silent	SNP	T	TCGA-GL-A59T-01A-21D-A28G-10	8976012	82560214	52446302	43	36300											
DDX10	1662	hgsc.bcm.edu	37	11	108559718	108559718	+	Missense_Mutation	SNP	A	A	G			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr11:108559718A>G	ENST00000322536.3	+	7	1033	c.904A>G	c.(904-906)Agt>Ggt	p.S302G	DDX10_ENST00000526794.1_Missense_Mutation_p.S302G	NM_004398.2	NP_004389.2	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	302	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				metabolic process (GO:0008152)		ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		GCAAAAAATAAGTGTGCTGTA	0.373			T	NUP98	AML*																																		Dom	yes		11	11q22-q23	1662	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10		L	0													194	193	193					11																	108559718		2201	4298	6499	SO:0001583	missense	1662			U28042	CCDS8342.1	11q22-q23	2005-10-11	2003-06-13		ENSG00000178105	ENSG00000178105		"DEAD-boxes"	2735	protein-coding gene	gene with protein product		601235	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase)"			8660968	Standard	NM_004398		Approved	HRH-J8	uc001pkm.3	Q13206	OTTHUMG00000166540	ENST00000322536.3:c.904A>G	chr11.hg19:g.108559718A>G	ENSP00000314348:p.Ser302Gly		B2RCQ3|Q5BJD8	Missense_Mutation	SNP	ENST00000322536.3	hg19	CCDS8342.1	.	.	.	.	.	.	.	.	.	.	A	8.380	0.837213	0.16891	.	.	ENSG00000178105	ENST00000322536;ENST00000456020;ENST00000526794	T;T	0.04809	3.55;3.55	5.61	5.61	0.85477	Helicase, C-terminal (1);	0.171976	0.64402	D	0.000008	T	0.04092	0.0114	N	0.16130	0.375	0.30844	N	0.735378	B;B	0.20887	0.049;0.049	B;B	0.16722	0.016;0.016	T	0.20505	-1.0273	10	0.27082	T	0.32	-11.3262	15.8096	0.78547	1.0:0.0:0.0:0.0	.	302;302	Q13206;E9PIF2	DDX10_HUMAN;.	G	302;208;302	ENSP00000314348:S302G;ENSP00000432032:S302G	ENSP00000314348:S302G	S	+	1	0	DDX10	108064928	1.000000	0.71417	1.000000	0.80357	0.015000	0.08874	6.272000	0.72575	2.132000	0.65825	0.533000	0.62120	AGT		0.373	DDX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390343.1	NM_004398		G	108559718	A	G	108559718	3	3	665	1	0	0	0	0	1	0	0	0	4344	72	3	3	930	3	DDX10	11	108559718	Missense_Mutation	SNP	A	TCGA-GL-A59T-01A-21D-A28G-10	25999504	108559718	26446798	44	36301											
SLC37A4	51399	hgsc.bcm.edu	37	11	118895661	118895661	+	IGR	SNP	T	T	C			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr11:118895661T>C	ENST00000533632.1	+	0	1759				SLC37A4_ENST00000545985.1_Missense_Mutation_p.I417V|SLC37A4_ENST00000330775.7_Missense_Mutation_p.I438V|SLC37A4_ENST00000538950.1_Missense_Mutation_p.I344V|SLC37A4_ENST00000357590.5_Missense_Mutation_p.I439V|TRAPPC4_ENST00000533058.1_Missense_Mutation_p.C226R|SLC37A4_ENST00000525102.1_5'UTR	NM_016146.4	NP_057230.1	Q9Y296	TPPC4_HUMAN	trafficking protein particle complex 4						dendrite development (GO:0016358)|ER to Golgi vesicle-mediated transport (GO:0006888)|extracellular matrix organization (GO:0030198)	cis-Golgi network (GO:0005801)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi stack (GO:0005795)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)|TRAPP complex (GO:0030008)				NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		TTGGTGCGGATGTTTCGTAGG	0.597																																																0													43	51	48					11																	118895661		2020	4175	6195	SO:0001628	intergenic_variant	2542			AF078862	CCDS8407.1	11q23.3	2011-10-10				ENSG00000196655		"Trafficking protein particle complex"	19943	protein-coding gene	gene with protein product		610971				10810093	Standard	NM_016146		Approved	TRS23, SBDN, PTD009	uc010ryo.2	Q9Y296			chr11.hg19:g.118895661T>C			A8K3A5|B4DME1	Missense_Mutation	SNP	ENST00000533632.1	hg19	CCDS8407.1	.	.	.	.	.	.	.	.	.	.	T	14.52	2.560807	0.45590	.	.	ENSG00000196655	ENST00000533058	T	0.50001	0.76	5.27	5.27	0.74061	.	.	.	.	.	T	0.52370	0.1730	L	0.36672	1.1	0.50171	D	0.999855	.	.	.	.	.	.	T	0.56147	-0.8027	7	0.87932	D	0	-22.4876	15.3661	0.74523	0.0:0.0:0.0:1.0	.	.	.	.	R	226	ENSP00000432920:C226R	ENSP00000432920:C226R	C	+	1	0	TRAPPC4	118400871	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	7.309000	0.78937	2.226000	0.72624	0.459000	0.35465	TGT		0.597	TRAPPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389332.1	NM_016146		C	118895661	T	C	118895661	1	2	665	0	1	0	0	0	0	0	0	0	14606	1464	51	3		3	SLC37A4	11	118895661	IGR	SNP	T	TCGA-GL-A59T-01A-21D-A28G-10	10335943	118895661	16110855	45	36302											
NCAPD2	9918	hgsc.bcm.edu	37	12	6637492	6637492	+	Silent	SNP	T	T	C			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr12:6637492T>C	ENST00000315579.5	+	25	4096	c.3297T>C	c.(3295-3297)gcT>gcC	p.A1099A	NCAPD2_ENST00000545962.1_Silent_p.A1054A	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	1099					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						ATCTGTATGCTCGGTAAGAGA	0.577																																																0													139	143	142					12																	6637492		2203	4300	6503	SO:0001819	synonymous_variant	9918			D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"chromosome condensation related SMC associated protein 1"	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.3297T>C	chr12.hg19:g.6637492T>C			D3DUR4|Q8N6U3	Silent	SNP	ENST00000315579.5	hg19	CCDS8548.1																																																																																				0.577	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1	NM_014865		C	6637492	T	C	6637492	2	2	665	1	0	0	0	0	0	0	0	1	10207	1538	54	3		3	NCAPD2	12	6637492	Silent	SNP	T	TCGA-GL-A59T-01A-21D-A28G-10		6637492	127214403	46	36303											
A2M	2	hgsc.bcm.edu	37	12	9243036	9243036	+	Missense_Mutation	SNP	G	G	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr12:9243036G>T	ENST00000318602.7	-	20	2819	c.2512C>A	c.(2512-2514)Cca>Aca	p.P838T		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	838					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)	TTCTCCACTGGGACAGCTAGG	0.537																																																0													97	100	99					12																	9243036		2130	4272	6402	SO:0001583	missense	2			BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.2512C>A	chr12.hg19:g.9243036G>T	ENSP00000323929:p.Pro838Thr		Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	ENST00000318602.7	hg19	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	G	12.82	2.053189	0.36181	.	.	ENSG00000175899	ENST00000318602;ENST00000540099	T	0.13778	2.56	5.08	5.08	0.68730	.	0.243635	0.35805	N	0.002961	T	0.41305	0.1153	M	0.87758	2.905	0.41736	D	0.989588	D	0.62365	0.991	D	0.63703	0.917	T	0.38735	-0.9647	10	0.37606	T	0.19	.	17.397	0.87449	0.0:0.0:1.0:0.0	.	838	P01023	A2MG_HUMAN	T	838;853	ENSP00000323929:P838T	ENSP00000323929:P838T	P	-	1	0	A2M	9134303	1.000000	0.71417	0.518000	0.27811	0.038000	0.13279	5.993000	0.70616	2.512000	0.84698	0.655000	0.94253	CCA		0.537	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		T	9243036	G	T	9243036	3	4	665	1	0	0	0	0	1	0	0	0	4	1232	43	4	1980	4	A2M	12	9243036	Missense_Mutation	SNP	G	TCGA-GL-A59T-01A-21D-A28G-10	2605544	9243036	124608859	47	36304											
LARP4	113251	hgsc.bcm.edu	37	12	50847398	50847398	+	Silent	SNP	T	T	C			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr12:50847398T>C	ENST00000398473.2	+	9	1072	c.960T>C	c.(958-960)taT>taC	p.Y320Y	LARP4_ENST00000347328.5_Intron|LARP4_ENST00000518444.1_Silent_p.Y319Y|LARP4_ENST00000293618.8_Silent_p.Y320Y|LARP4_ENST00000518561.1_Silent_p.Y250Y|LARP4_ENST00000429001.3_Silent_p.Y326Y|LARP4_ENST00000522085.1_Silent_p.Y320Y	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	320					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						ACTCGGTCTATAGTATTGTGC	0.373																																																0													208	181	190					12																	50847398		1906	4126	6032	SO:0001819	synonymous_variant	113251			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.960T>C	chr12.hg19:g.50847398T>C			A8K6T1|E9PDG5|G3XAA8|G5E976|Q5CZ97|Q6ZV14|Q96NF9	Silent	SNP	ENST00000398473.2	hg19	CCDS41782.1																																																																																				0.373	LARP4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374981.1	NM_052879		C	50847398	T	C	50847398	2	2	665	1	0	0	0	0	0	0	0	1	8632	1413	49	3		3	LARP4	12	50847398	Silent	SNP	T	TCGA-GL-A59T-01A-21D-A28G-10	41604362	50847398	83004497	48	36305											
NPFF	8620	hgsc.bcm.edu	37	12	53900627	53900627	+	Missense_Mutation	SNP	C	C	T	rs199569723		TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr12:53900627C>T	ENST00000267017.3	-	3	438	c.275G>A	c.(274-276)cGg>cAg	p.R92Q	RP11-793H13.10_ENST00000591834.1_3'UTR|NPFF_ENST00000609999.1_Missense_Mutation_p.R95Q	NM_003717.2	NP_003708.1	O15130	NPFF_HUMAN	neuropeptide FF-amide peptide precursor	92					acute inflammatory response to antigenic stimulus (GO:0002438)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of appetite (GO:0032099)|negative regulation of heart rate (GO:0010459)|negative regulation of insulin secretion (GO:0046676)|neuropeptide signaling pathway (GO:0007218)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane depolarization (GO:0003254)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|response to morphine (GO:0043278)|somatostatin secretion (GO:0070253)|spinal cord development (GO:0021510)|synaptic transmission (GO:0007268)|vasopressin secretion (GO:0030103)	axon terminus (GO:0043679)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|perikaryon (GO:0043204)|vesicle (GO:0031982)	receptor binding (GO:0005102)			haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3						CTCTCCAGCCCGGGGACTCAG	0.552																																																0													111	114	113					12																	53900627		2203	4300	6503	SO:0001583	missense	8620			AF005271	CCDS8862.1	12q13.13	2013-02-26			ENSG00000139574	ENSG00000139574		"Endogenous ligands"	7901	protein-coding gene	gene with protein product		604643				9224703	Standard	NM_003717		Approved	FMRFAL	uc001sdw.1	O15130	OTTHUMG00000169856	ENST00000267017.3:c.275G>A	chr12.hg19:g.53900627C>T	ENSP00000267017:p.Arg92Gln		Q3SXL4	Missense_Mutation	SNP	ENST00000267017.3	hg19	CCDS8862.1	.	.	.	.	.	.	.	.	.	.	C	10.28	1.306772	0.23821	.	.	ENSG00000139574	ENST00000267017	T	0.54279	0.58	4.52	-1.46	0.08800	.	0.173981	0.36555	N	0.002528	T	0.36441	0.0967	L	0.49126	1.545	0.09310	N	1	B	0.23490	0.086	B	0.17722	0.019	T	0.13737	-1.0498	10	0.38643	T	0.18	-7.5784	3.979	0.09487	0.3493:0.371:0.0:0.2797	.	92	O15130	NPFF_HUMAN	Q	92	ENSP00000267017:R92Q	ENSP00000267017:R92Q	R	-	2	0	NPFF	52186894	0.048000	0.20356	0.008000	0.14137	0.980000	0.70556	0.139000	0.16036	-0.071000	0.12886	0.491000	0.48974	CGG		0.552	NPFF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406301.1	NM_003717		T	53900627	C	T	53900627	3	4	665	1	0	0	0	0	1	0	0	0	10578	652	23	1	70	1	NPFF	12	53900627	Missense_Mutation	SNP	C	TCGA-GL-A59T-01A-21D-A28G-10	3053229	53900627	79951268	49	36306											
ATP5G2	517	hgsc.bcm.edu	37	12	54062935	54062935	+	Missense_Mutation	SNP	G	G	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr12:54062935G>T	ENST00000549164.1	-	4	495	c.308C>A	c.(307-309)gCc>gAc	p.A103D	ATP5G2_ENST00000602871.1_Missense_Mutation_p.A103D|ATP5G2_ENST00000338662.5_Missense_Mutation_p.A119D|ATP5G2_ENST00000394349.3_Missense_Mutation_p.A160D|ATP5G2_ENST00000550241.1_5'UTR			Q06055	AT5G2_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9)	103					ATP hydrolysis coupled proton transport (GO:0015991)|ATP synthesis coupled proton transport (GO:0015986)|response to ethanol (GO:0045471)	integral component of membrane (GO:0016021)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|lipid binding (GO:0008289)|transporter activity (GO:0005215)			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						ATCTTACCTGGCATAACCAAT	0.498																																																0													81	79	80					12																	54062935		2203	4300	6503	SO:0001583	missense	517			X69908	CCDS8863.2, CCDS31812.1	12q13.13	2012-10-12	2010-06-11		ENSG00000135390	ENSG00000135390		"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	842	protein-coding gene	gene with protein product		603193	"ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9), isoform 2", "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C2 (subunit 9)"			8328972	Standard	NM_005176		Approved		uc001sec.3	Q06055	OTTHUMG00000133442	ENST00000549164.1:c.308C>A	chr12.hg19:g.54062935G>T	ENSP00000447317:p.Ala103Asp		B3KQQ6	Missense_Mutation	SNP	ENST00000549164.1	hg19		.	.	.	.	.	.	.	.	.	.	G	34	5.341976	0.95783	.	.	ENSG00000135390	ENST00000394349;ENST00000549164;ENST00000338662	T;T;T	0.57752	0.38;0.38;0.38	5.14	5.14	0.70334	ATPase, F0/V0 complex, subunit C (3);	0.000000	0.85682	D	0.000000	D	0.83454	0.5258	H	0.98682	4.3	0.80722	D	1	D;D;D	0.76494	0.998;0.995;0.999	D;D;D	0.75020	0.971;0.964;0.985	D	0.89594	0.3830	10	0.87932	D	0	.	17.9104	0.88932	0.0:0.0:1.0:0.0	.	103;119;160	Q06055;Q06055-3;Q06055-2	AT5G2_HUMAN;.;.	D	160;103;119	ENSP00000377878:A160D;ENSP00000447317:A103D;ENSP00000340315:A119D	ENSP00000340315:A119D	A	-	2	0	ATP5G2	52349202	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.496000	0.97967	2.847000	0.97988	0.655000	0.94253	GCC		0.498	ATP5G2-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000407403.1	NM_005176		T	54062935	G	T	54062935	3	4	665	1	0	0	0	0	1	0	0	0	1154	1203	42	4	125	4	ATP5G2	12	54062935	Missense_Mutation	SNP	G	TCGA-GL-A59T-01A-21D-A28G-10	162308	54062935	79788960	50	36307											
CEP290	80184	hgsc.bcm.edu	37	12	88514780	88514780	+	Nonsense_Mutation	SNP	A	A	C			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr12:88514780A>C	ENST00000552810.1	-	14	1696	c.1353T>G	c.(1351-1353)taT>taG	p.Y451*	CEP290_ENST00000309041.7_Nonsense_Mutation_p.Y451*|CEP290_ENST00000397838.3_5'UTR	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	451					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						ATACCGATTCATAATCTTTTA	0.363																																																0													89	86	87					12																	88514780		1837	4077	5914	SO:0001587	stop_gained	80184			AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"Joubert syndrome 5", "nephrocystin-6", "cancer/testis antigen 87", "POC3 centriolar protein homolog (Chlamydomonas)", "Meckel syndrome, type 4"	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.1353T>G	chr12.hg19:g.88514780A>C	ENSP00000448012:p.Tyr451*		Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Nonsense_Mutation	SNP	ENST00000552810.1	hg19	CCDS55858.1	.	.	.	.	.	.	.	.	.	.	A	41	8.542306	0.98857	.	.	ENSG00000198707	ENST00000552810;ENST00000309041;ENST00000536998;ENST00000545139	.	.	.	5.61	4.42	0.53409	.	0.147782	0.46758	D	0.000264	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	5.4776	0.16704	0.7324:0.0:0.1371:0.1305	.	.	.	.	X	451;451;451;353	.	ENSP00000308021:Y451X	Y	-	3	2	CEP290	87038911	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.199000	0.58426	2.137000	0.66172	0.482000	0.46254	TAT		0.363	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114		C	88514780	A	C	88514780	4	2	665	1	0	0	0	0	0	1	0	0	3255	224	8	5	6250	5	CEP290	12	88514780	Nonsense_Mutation	SNP	A	TCGA-GL-A59T-01A-21D-A28G-10	34451845	88514780	45337115	51	36308											
ANKS1B	56899	hgsc.bcm.edu	37	12	99640158	99640158	+	Silent	SNP	G	G	A			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr12:99640158G>A	ENST00000547776.2	-	13	2240	c.2241C>T	c.(2239-2241)tcC>tcT	p.S747S	ANKS1B_ENST00000329257.7_Silent_p.S747S|ANKS1B_ENST00000550833.1_5'Flank|ANKS1B_ENST00000547010.1_Silent_p.S327S	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	747						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TTTTCTCATTGGAAGGATAGG	0.413																																																0													92	87	89					12																	99640158		1912	4102	6014	SO:0001819	synonymous_variant	56899			AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.2241C>T	chr12.hg19:g.99640158G>A			A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Silent	SNP	ENST00000547776.2	hg19	CCDS55872.1	.	.	.	.	.	.	.	.	.	.	G	7.433	0.639208	0.14386	.	.	ENSG00000185046	ENST00000550778	.	.	.	5.21	-7.15	0.01521	.	.	.	.	.	T	0.38401	0.1039	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45977	-0.9224	4	.	.	.	-6.1946	3.8547	0.08970	0.0906:0.3375:0.3258:0.2461	.	.	.	.	L	19	.	.	P	-	2	0	ANKS1B	98164289	0.194000	0.23325	0.127000	0.21898	0.969000	0.65631	-1.051000	0.03507	-0.833000	0.04245	0.462000	0.41574	CCA		0.413	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140		A	99640158	G	A	99640158	2	1	665	1	0	0	0	0	0	0	0	1	689	1335	47	2		2	ANKS1B	12	99640158	Silent	SNP	G	TCGA-GL-A59T-01A-21D-A28G-10	11125378	99640158	34211737	52	36309											
FAM161B	145483	hgsc.bcm.edu	37	14	74409353	74409353	+	Missense_Mutation	SNP	A	A	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr14:74409353A>T	ENST00000534936.1	-	4	1096	c.991T>A	c.(991-993)Tcc>Acc	p.S331T	FAM161B_ENST00000286544.3_Missense_Mutation_p.S394T			Q96MY7	F161B_HUMAN	family with sequence similarity 161, member B	331										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						GCGATAGGGGAAGAGGCCATC	0.532																																																0													88	96	94					14																	74409353		2203	4300	6503	SO:0001583	missense	145483			AA356453	CCDS9822.1, CCDS9822.2	14q24.2	2008-06-05	2008-06-05	2008-06-05		ENSG00000156050			19854	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 44"	C14orf44			Standard	NM_152445		Approved	FLJ31697	uc001xpd.3	Q96MY7		ENST00000534936.1:c.991T>A	chr14.hg19:g.74409353A>T	ENSP00000445326:p.Ser331Thr		B7Z882|J3KNA2	Missense_Mutation	SNP	ENST00000534936.1	hg19		.	.	.	.	.	.	.	.	.	.	A	16.34	3.096005	0.56075	.	.	ENSG00000156050	ENST00000286544;ENST00000534936	T;T	0.21361	2.01;2.01	5.5	4.34	0.51931	.	0.392302	0.25786	N	0.028306	T	0.38719	0.1051	M	0.79475	2.455	0.29528	N	0.852984	D	0.61697	0.99	P	0.61722	0.893	T	0.35475	-0.9787	10	0.09843	T	0.71	-10.2675	12.0316	0.53401	0.5426:0.4574:0.0:0.0	.	331	Q96MY7	F161B_HUMAN	T	394;331	ENSP00000286544:S394T;ENSP00000445326:S331T	ENSP00000286544:S394T	S	-	1	0	FAM161B	73479106	0.652000	0.27349	1.000000	0.80357	0.874000	0.50279	1.334000	0.33827	1.081000	0.41110	0.533000	0.62120	TCC		0.532	FAM161B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_152445		T	74409353	A	T	74409353	3	4	665	1	0	0	0	0	1	0	0	0	5475	246	9	5	976	5	FAM161B	14	74409353	Missense_Mutation	SNP	A	TCGA-GL-A59T-01A-21D-A28G-10		74409353	32940187	53	36310											
C14orf49	161176	hgsc.bcm.edu	37	14	95906070	95906070	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr14:95906070C>T	ENST00000334258.5	-	12	2139	c.2125G>A	c.(2125-2127)Gcg>Acg	p.A709T	SYNE3_ENST00000554873.1_Missense_Mutation_p.A466T|SYNE3_ENST00000557275.1_Missense_Mutation_p.A709T	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	709					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						CAGCCCTGCGCTTCCACCAGG	0.637																																																0													44	47	46					14																	95906070		2203	4300	6503	SO:0001583	missense	161176			AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"chromosome 14 open reading frame 49"	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.2125G>A	chr14.hg19:g.95906070C>T	ENSP00000334308:p.Ala709Thr		A6H8H3|Q86SX5|Q8N7G8	Missense_Mutation	SNP	ENST00000334258.5	hg19	CCDS9935.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.663059	0.47572	.	.	ENSG00000176438	ENST00000334258;ENST00000554873;ENST00000557275	T;T;T	0.52295	0.67;0.67;0.67	5.34	5.34	0.76211	.	0.171047	0.27932	N	0.017272	T	0.46034	0.1372	L	0.50333	1.59	0.80722	D	1	P;P	0.50369	0.919;0.934	P;P	0.48598	0.447;0.583	T	0.26573	-1.0099	10	0.12430	T	0.62	-23.2732	11.6332	0.51187	0.1774:0.8226:0.0:0.0	.	709;709	Q6ZMZ3-2;Q6ZMZ3	.;SYNE3_HUMAN	T	709;466;709	ENSP00000334308:A709T;ENSP00000452154:A466T;ENSP00000450562:A709T	ENSP00000334308:A709T	A	-	1	0	C14orf49	94975823	0.218000	0.23608	0.039000	0.18376	0.023000	0.10783	1.454000	0.35178	2.507000	0.84556	0.561000	0.74099	GCG		0.637	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592		T	95906070	C	T	95906070	3	4	665	1	0	0	0	0	1	0	0	0	1778	797	28	2	826	2	C14orf49	14	95906070	Missense_Mutation	SNP	C	TCGA-GL-A59T-01A-21D-A28G-10	21496717	95906070	11443470	54	36311											
TBC1D24	57465	hgsc.bcm.edu	37	16	2550436	2550436	+	Silent	SNP	G	G	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr16:2550436G>T	ENST00000293970.5	+	7	1603	c.1470G>T	c.(1468-1470)ctG>ctT	p.L490L	TBC1D24_ENST00000567020.1_Silent_p.L484L|TBC1D24_ENST00000434757.2_Silent_p.L490L|RP11-20I23.1_ENST00000564543.1_Intron	NM_001199107.1	NP_001186036.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	490	TLD.				neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|terminal bouton (GO:0043195)	Rab GTPase activator activity (GO:0005097)			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						ACTTCAACCTGCCCTCCAAGA	0.692																																																0													12	17	15					16																	2550436		2057	4196	6253	SO:0001819	synonymous_variant	57465			AB032997	CCDS42107.1, CCDS55980.1	16p13.3	2014-05-07				ENSG00000162065			29203	protein-coding gene	gene with protein product	"TBC/LysM-associated domain containing 6"	613577	"deafness, autosomal recessive 86"	DFNB86		10574461, 24387994, 24729539	Standard	NM_001199107		Approved	KIAA1171, TLDC6, DFNA65	uc002cql.3	Q9ULP9		ENST00000293970.5:c.1470G>T	chr16.hg19:g.2550436G>T			A0JNW3|B9A6M6|Q2KJ08	Silent	SNP	ENST00000293970.5	hg19	CCDS55980.1																																																																																				0.692	TBC1D24-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000435637.1	NM_020705		T	2550436	G	T	2550436	2	4	665	1	0	0	0	0	0	0	0	1	15619	1306	46	4		4	TBC1D24	16	2550436	Silent	SNP	G	TCGA-GL-A59T-01A-21D-A28G-10		2550436	87804317	55	36312											
TCAP	8557	hgsc.bcm.edu	37	17	37821723	37821723	+	Splice_Site	SNP	G	G	A	rs113187448		TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr17:37821723G>A	ENST00000309889.2	+	1	1283		c.e1+1		PNMT_ENST00000394246.1_5'Flank|TCAP_ENST00000578283.1_Splice_Site|PNMT_ENST00000269582.2_5'Flank|PNMT_ENST00000581428.1_5'Flank			O15273	TELT_HUMAN	titin-cap						adult heart development (GO:0007512)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of mechanical stimulus (GO:0050982)|detection of muscle stretch (GO:0035995)|muscle filament sliding (GO:0030049)|otic vesicle formation (GO:0030916)|protein complex assembly (GO:0006461)|response to muscle stretch (GO:0035994)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle contraction (GO:0003009)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)	cytosol (GO:0005829)|I band (GO:0031674)|Z disc (GO:0030018)	FATZ binding (GO:0051373)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			kidney(1)|lung(1)	2	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CCGAGGAGGGGTGAGTGTGGG	0.627																																																0													67	64	65					17																	37821723		2203	4300	6503	SO:0001630	splice_region_variant	8557			AJ000491	CCDS11342.1	17q12	2014-09-17	2012-09-20		ENSG00000173991	ENSG00000173991			11610	protein-coding gene	gene with protein product	"19 kDa sarcomeric protein"	604488	"limb girdle muscular dystrophy 2G (autosomal recessive)", "titin-cap (telethonin)"	LGMD2G		9350988, 9817758	Standard	NM_003673		Approved	T-cap, TELE, telethonin, CMD1N	uc002hsh.3	O15273	OTTHUMG00000133215	ENST00000309889.2:c.110+1G>A	chr17.hg19:g.37821723G>A			Q96L27	Splice_Site	SNP	ENST00000309889.2	hg19	CCDS11342.1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.194985	0.38806	.	.	ENSG00000173991	ENST00000309889	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5082	0.95130	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TCAP	35075249	1.000000	0.71417	1.000000	0.80357	0.117000	0.20001	7.443000	0.80521	2.710000	0.92621	0.563000	0.77884	.		0.627	TCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256942.1	NM_003673	Intron	A	37821723	G	A	37821723	5	1	665	1	0	0	0	0	0	0	1	0	15671	1275	44	2	113	2	TCAP	17	37821723	Splice_Site	SNP	G	TCGA-GL-A59T-01A-21D-A28G-10		37821723	43373487	56	36313											
RPTOR	57521	hgsc.bcm.edu	37	17	78811724	78811724	+	Missense_Mutation	SNP	A	A	C			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr17:78811724A>C	ENST00000306801.3	+	10	1501	c.1139A>C	c.(1138-1140)cAa>cCa	p.Q380P	RPTOR_ENST00000544334.2_Missense_Mutation_p.Q380P|RPTOR_ENST00000537330.1_Missense_Mutation_p.Q195P|RPTOR_ENST00000575542.1_3'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	380					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CTCCGCAGGCAAGCCTGGGAC	0.612																																																0													111	77	89					17																	78811724		2203	4300	6503	SO:0001583	missense	57521				CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"WD repeat domain containing"	30287	protein-coding gene	gene with protein product	"regulatory associated protein of mTOR"	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.1139A>C	chr17.hg19:g.78811724A>C	ENSP00000307272:p.Gln380Pro		B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	ENST00000306801.3	hg19	CCDS11773.1	.	.	.	.	.	.	.	.	.	.	A	16.94	3.260139	0.59321	.	.	ENSG00000141564	ENST00000537330;ENST00000306801;ENST00000544334	T;T	0.46819	0.86;0.86	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.66218	0.2767	M	0.79475	2.455	0.80722	D	1	D;B;D	0.56521	0.96;0.168;0.976	D;B;B	0.64237	0.923;0.086;0.438	T	0.68526	-0.5385	10	0.46703	T	0.11	.	13.1464	0.59463	1.0:0.0:0.0:0.0	.	380;195;380	F5H7J5;F5GXV9;Q8N122	.;.;RPTOR_HUMAN	P	195;380;380	ENSP00000307272:Q380P;ENSP00000442479:Q380P	ENSP00000307272:Q380P	Q	+	2	0	RPTOR	76426319	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	8.087000	0.89521	1.990000	0.58119	0.455000	0.32223	CAA		0.612	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761		C	78811724	A	C	78811724	3	2	665	1	0	0	0	0	1	0	0	0	13671	130	5	5	1177	5	RPTOR	17	78811724	Missense_Mutation	SNP	A	TCGA-GL-A59T-01A-21D-A28G-10	40990001	78811724	2383486	57	36314											
RTTN	25914	hgsc.bcm.edu	37	18	67863855	67863855	+	Missense_Mutation	SNP	A	A	T	rs2365902		TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr18:67863855A>T	ENST00000255674.6	-	7	1009	c.723T>A	c.(721-723)ttT>ttA	p.F241L	RTTN_ENST00000437017.1_Missense_Mutation_p.F241L|RTTN_ENST00000454359.1_Missense_Mutation_p.F241L	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	241				F -> FG (in Ref. 1; AK096404 and 3; CAH18659). {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)				TTCCATCTCCAAAGGCCAGTT	0.448																																																0													69	66	67					18																	67863855		1859	4099	5958	SO:0001583	missense	25914			AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.723T>A	chr18.hg19:g.67863855A>T	ENSP00000255674:p.Phe241Leu		Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	ENST00000255674.6	hg19	CCDS42443.1	.	.	.	.	.	.	.	.	.	.	A	14.03	2.412496	0.42817	.	.	ENSG00000176225	ENST00000255674;ENST00000454359;ENST00000437017	T;T;T	0.62364	3.75;0.03;0.03	5.21	-1.64	0.08318	Armadillo-like helical (1);Armadillo-type fold (2);	0.168056	0.41396	D	0.000882	T	0.45256	0.1333	L	0.57536	1.79	0.28531	N	0.912606	B;B	0.11235	0.003;0.004	B;B	0.13407	0.004;0.009	T	0.40098	-0.9581	10	0.06625	T	0.88	.	5.9129	0.19039	0.4745:0.0:0.3977:0.1277	.	241;241	Q86VV8-2;Q86VV8	.;RTTN_HUMAN	L	241	ENSP00000255674:F241L;ENSP00000402352:F241L;ENSP00000399520:F241L	ENSP00000255674:F241L	F	-	3	2	RTTN	66014835	0.504000	0.26123	0.928000	0.36995	0.995000	0.86356	-0.014000	0.12656	-0.284000	0.09102	0.528000	0.53228	TTT		0.448	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		T	67863855	A	T	67863855	3	4	665	1	0	0	0	0	1	0	0	0	13743	127	5	5	6129	5	RTTN	18	67863855	Missense_Mutation	SNP	A	TCGA-GL-A59T-01A-21D-A28G-10		67863855	10213393	58	36315											
PRKCSH	5589	hgsc.bcm.edu	37	19	11558370	11558370	+	Silent	SNP	G	G	A	rs77563879		TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr19:11558370G>A	ENST00000589838.1	+	10	966	c.966G>A	c.(964-966)gaG>gaA	p.E322E	PRKCSH_ENST00000587327.1_Silent_p.E322E|PRKCSH_ENST00000591462.1_Silent_p.E322E|PRKCSH_ENST00000592741.1_Silent_p.E322E|PRKCSH_ENST00000252455.2_Silent_p.E322E|PRKCSH_ENST00000412601.1_Silent_p.E322E			P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	322	Glu-rich (acidic).				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)	p.E321_E322delEE(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						aggaggaggaggaagaagagg	0.632																																																1	Deletion - In frame(1)	central_nervous_system(1)											27	27	27					19																	11558370		2200	4298	6498	SO:0001819	synonymous_variant	5589				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.966G>A	chr19.hg19:g.11558370G>A			A8K318|Q96BU9|Q96D06|Q9P0W9	Silent	SNP	ENST00000589838.1	hg19	CCDS32911.1																																																																																				0.632	PRKCSH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458817.1			A	11558370	G	A	11558370	2	1	665	1	0	0	0	0	0	0	0	1	12521	991	35	2		2	PRKCSH	19	11558370	Silent	SNP	G	TCGA-GL-A59T-01A-21D-A28G-10		11558370	47570613	59	36316											
GRWD1	83743	hgsc.bcm.edu	37	19	48953775	48953775	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr19:48953775delG	ENST00000253237.5	+	4	907	c.674delG	c.(673-675)cggfs	p.R225fs		NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	225						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)		TGGTCCCCCCGGGTGACCGGT	0.667																																																0													34	37	36					19																	48953775		2203	4300	6503	SO:0001589	frameshift_variant	83743			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.674delG	chr19.hg19:g.48953775delG	ENSP00000253237:p.Arg225fs		Q8TF59	Frame_Shift_Del	DEL	ENST00000253237.5	hg19	CCDS12720.1																																																																																				0.667	GRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466122.1	NM_031485		-	48953775	G	-	48953775	7	5	665	1	0	1	0	1	0	0	0	0	6813	1116	39	0	688	0	GRWD1	19	48953775	Frame_Shift_Del	DEL	G	TCGA-GL-A59T-01A-21D-A28G-10	37395405	48953775	10175208	60	36317											
ZNF615	284370	hgsc.bcm.edu	37	19	52496371	52496372	+	Missense_Mutation	DNP	GC	GC	AT			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr19:52496371_52496372GC>AT	ENST00000602063.1	-	6	2306_2307	c.1957_1958GC>AT	c.(1957-1959)GCa>ATa	p.A653I	ZNF615_ENST00000391795.3_Missense_Mutation_p.A658I|ZNF615_ENST00000594083.1_Missense_Mutation_p.A664I|ZNF615_ENST00000598071.1_Missense_Mutation_p.A664I|ZNF615_ENST00000376716.5_Missense_Mutation_p.A653I			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	653					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TTCAGTACATGCAAAGGAAGTC	0.406																																																0																																										SO:0001583	missense	284370			AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"Zinc fingers, C2H2-type", "-"	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.1957_1958delinsAT	chr19.hg19:g.52496371_52496372delinsAT	ENSP00000473089:p.Ala653Ile		B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Missense_Mutation	SNP	ENST00000602063.1	hg19	CCDS12846.1																																																																																				0.406	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	NM_198480		AT	52496372	GC	AT	52496371	3	1	665	1	0	0	0	0	1	0	0	0	18045	1319	46	2	241	2	ZNF615	19	52496371	Missense_Mutation	DNP	GC	TCGA-GL-A59T-01A-21D-A28G-10	3542596	52496371	6632612	61	36318											
ZNF160	90338	hgsc.bcm.edu	37	19	53572249	53572249	+	Missense_Mutation	SNP	T	T	C			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr19:53572249T>C	ENST00000429604.1	-	7	1953	c.1538A>G	c.(1537-1539)gAg>gGg	p.E513G	ZNF160_ENST00000599056.1_Missense_Mutation_p.E513G|ZNF160_ENST00000418871.1_Missense_Mutation_p.E513G|ZNF160_ENST00000601421.1_Missense_Mutation_p.E477G	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	513					hemopoiesis (GO:0030097)|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)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		TTTCCCACACTCATTACACTT	0.403																																																0													103	103	103					19																	53572249		2203	4300	6503	SO:0001583	missense	90338			X78928	CCDS12859.1	19q13.42	2013-01-08				ENSG00000170949		"Zinc fingers, C2H2-type", "-"	12948	protein-coding gene	gene with protein product		600398				7774943, 7865130	Standard	NM_198893		Approved	HZF5, F11, KR18, HKr18, FLJ00032, KIAA1611	uc002qar.4	Q9HCG1		ENST00000429604.1:c.1538A>G	chr19.hg19:g.53572249T>C	ENSP00000406201:p.Glu513Gly		Q14589|Q504Q8|Q96JC5|Q9BVY9|Q9H7N6	Missense_Mutation	SNP	ENST00000429604.1	hg19	CCDS12859.1	.	.	.	.	.	.	.	.	.	.	T	11.15	1.552720	0.27739	.	.	ENSG00000170949	ENST00000429604;ENST00000418871	T;T	0.07444	3.19;3.19	2.47	0.0174	0.14112	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20780	0.0500	M	0.64080	1.96	0.09310	N	1	D	0.89917	1.0	D	0.76575	0.988	T	0.07908	-1.0748	9	0.87932	D	0	.	6.7782	0.23630	0.363:0.0:0.0:0.637	.	513	Q9HCG1	ZN160_HUMAN	G	513	ENSP00000406201:E513G;ENSP00000409597:E513G	ENSP00000409597:E513G	E	-	2	0	ZNF160	58264061	0.000000	0.05858	0.002000	0.10522	0.354000	0.29330	0.114000	0.15520	-0.237000	0.09739	0.459000	0.35465	GAG		0.403	ZNF160-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463994.2	NM_033288		C	53572249	T	C	53572249	3	2	665	1	0	0	0	0	1	0	0	0	17744	1551	54	3	922	3	ZNF160	19	53572249	Missense_Mutation	SNP	T	TCGA-GL-A59T-01A-21D-A28G-10	1075878	53572249	5556734	62	36319											
C20orf30	29058	hgsc.bcm.edu	37	20	5086868	5086868	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr20:5086868C>T	ENST00000379286.2	-	4	608	c.188G>A	c.(187-189)gGc>gAc	p.G63D	TMEM230_ENST00000379279.2_Missense_Mutation_p.G63D|TMEM230_ENST00000379283.2_Missense_Mutation_p.G63D|TMEM230_ENST00000342308.5_Missense_Mutation_p.G126D|TMEM230_ENST00000202834.7_Missense_Mutation_p.G63D|TMEM230_ENST00000492419.1_5'UTR|TMEM230_ENST00000379277.2_Missense_Mutation_p.G63D	NM_001009924.1	NP_001009924.1	Q96A57	TM230_HUMAN	transmembrane protein 230	63						integral component of membrane (GO:0016021)											CAGGAGGGAGCCTATAATAAT	0.453																																																0													66	66	66					20																	5086868		2203	4300	6503	SO:0001583	missense	29058			AF161392	CCDS13086.1, CCDS33438.1	20p13	2012-03-16	2012-03-16	2012-03-16	ENSG00000089063	ENSG00000089063			15876	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 30"	C20orf30			Standard	XM_005260713		Approved	HSPC274	uc002wlk.3	Q96A57	OTTHUMG00000031796	ENST00000379286.2:c.188G>A	chr20.hg19:g.5086868C>T	ENSP00000368588:p.Gly63Asp		B2RDM8|D3DVZ9|Q0VGC8|Q5TDS5|Q96ES2|Q9P0A7	Missense_Mutation	SNP	ENST00000379286.2	hg19	CCDS13086.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.392086	0.83011	.	.	ENSG00000089063	ENST00000379283;ENST00000342308;ENST00000379299;ENST00000202834;ENST00000379286;ENST00000379279;ENST00000379277;ENST00000379276	T	0.60299	0.2	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.80879	0.4708	M	0.90145	3.09	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.81914	0.964;0.995;0.993	D	0.84375	0.0546	10	0.87932	D	0	-27.0491	17.8394	0.88711	0.0:1.0:0.0:0.0	.	63;63;126	Q5JWB9;Q96A57;Q96A57-2	.;CT030_HUMAN;.	D	63;126;63;63;63;63;63;63	ENSP00000341364:G126D	ENSP00000202834:G63D	G	-	2	0	C20orf30	5034868	1.000000	0.71417	1.000000	0.80357	0.471000	0.32888	7.104000	0.77024	2.854000	0.98071	0.655000	0.94253	GGC		0.453	TMEM230-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077846.1			T	5086868	C	T	5086868	3	4	665	1	0	0	0	0	1	0	0	0	2112	739	26	2	182	2	C20orf30	20	5086868	Missense_Mutation	SNP	C	TCGA-GL-A59T-01A-21D-A28G-10		5086868	57938652	63	36320											
PLCB4	5332	hgsc.bcm.edu	37	20	9440354	9440354	+	Missense_Mutation	SNP	G	G	A			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr20:9440354G>A	ENST00000378493.1	+	31	3124	c.3109G>A	c.(3109-3111)Gaa>Aaa	p.E1037K	PLCB4_ENST00000278655.4_Missense_Mutation_p.E1037K|PLCB4_ENST00000378501.2_Missense_Mutation_p.E1037K|PLCB4_ENST00000334005.3_Missense_Mutation_p.E1037K|PLCB4_ENST00000414679.2_Missense_Mutation_p.E1049K|PLCB4_ENST00000378473.3_Missense_Mutation_p.E1049K|PLCB4_ENST00000492632.1_Intron			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	1037					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						TGAGGAGCAAGAAATCCGAGA	0.502																																																0													64	53	57					20																	9440354		2203	4300	6503	SO:0001583	missense	5332				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.3109G>A	chr20.hg19:g.9440354G>A	ENSP00000367754:p.Glu1037Lys		B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	hg19	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.565149	0.65651	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96	5.51	5.51	0.81932	.	0.055638	0.64402	D	0.000001	T	0.44829	0.1312	L	0.50333	1.59	0.53688	D	0.999974	B;B;B;P	0.37824	0.042;0.021;0.083;0.609	B;B;B;P	0.44860	0.013;0.014;0.011;0.462	T	0.29027	-1.0025	10	0.35671	T	0.21	.	12.7258	0.57170	0.0753:0.0:0.9247:0.0	.	1049;884;1037;1037	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	K	1037;1049;1037;1037;1037;885	ENSP00000334105:E1037K;ENSP00000367734:E1049K;ENSP00000278655:E1037K;ENSP00000367754:E1037K;ENSP00000367762:E1037K;ENSP00000390616:E885K	ENSP00000278655:E1037K	E	+	1	0	PLCB4	9388354	1.000000	0.71417	0.997000	0.53966	0.965000	0.64279	7.421000	0.80204	2.578000	0.87016	0.561000	0.74099	GAA		0.502	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			A	9440354	G	A	9440354	3	1	665	1	0	0	0	0	1	0	0	0	12032	943	33	2	3271	2	PLCB4	20	9440354	Missense_Mutation	SNP	G	TCGA-GL-A59T-01A-21D-A28G-10	4353486	9440354	53585166	64	36321											
MYH7B	57644	hgsc.bcm.edu	37	20	33567508	33567512	+	Frame_Shift_Del	DEL	TCGCT	TCGCT	-	rs539864476|rs572570454	byFrequency	TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	TCGCT	TCGCT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr20:33567508_33567512delTCGCT	ENST00000262873.7	+	5	461_465	c.369_373delTCGCT	c.(367-375)cctcgcttcfs	p.RF124fs		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	82	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)			TGAACCCGCCTCGCTTCGACTTACT	0.629																																																0																																										SO:0001589	frameshift_variant	57644			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.369_373delTCGCT	chr20.hg19:g.33567508_33567512delTCGCT	ENSP00000262873:p.Arg124fs		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Frame_Shift_Del	DEL	ENST00000262873.7	hg19	CCDS42869.1																																																																																				0.629	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		-	33567512	TCGCT	-	33567508	7	5	665	1	0	1	0	1	0	0	0	0	10042	1538	54	0	387	0	MYH7B	20	33567508	Frame_Shift_Del	DEL	TCGCT	TCGA-GL-A59T-01A-21D-A28G-10	24127154	33567508	29458012	65	36322											
APP	351	hgsc.bcm.edu	37	21	27328004	27328004	+	Silent	SNP	G	G	C			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr21:27328004G>C	ENST00000346798.3	-	12	1557	c.1524C>G	c.(1522-1524)acC>acG	p.T508T	APP_ENST00000357903.3_Silent_p.T489T|APP_ENST00000358918.3_Silent_p.T508T|APP_ENST00000359726.3_Silent_p.T452T|APP_ENST00000439274.2_Silent_p.T452T|APP_ENST00000348990.5_Silent_p.T433T|APP_ENST00000354192.3_Silent_p.T377T|APP_ENST00000440126.3_Silent_p.T484T|APP_ENST00000448388.2_Silent_p.T398T	NM_000484.3	NP_000475.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	508	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)				AATGCTTTAGGGTGTGCTGTC	0.483																																																0													229	180	196					21																	27328004		2203	4300	6503	SO:0001819	synonymous_variant	351			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.1524C>G	chr21.hg19:g.27328004G>C			B2R5V1|B4DII8|D3DSD1|D3DSD2|D3DSD3|P09000|P78438|Q13764|Q13778|Q13793|Q16011|Q16014|Q16019|Q16020|Q6GSC0|Q8WZ99|Q9BT38|Q9UC33|Q9UCA9|Q9UCB6|Q9UCC8|Q9UCD1|Q9UQ58	Silent	SNP	ENST00000346798.3	hg19	CCDS13576.1	.	.	.	.	.	.	.	.	.	.	G	8.763	0.923954	0.18056	.	.	ENSG00000142192	ENST00000448850	.	.	.	5.45	3.65	0.41850	.	.	.	.	.	T	0.55970	0.1954	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50816	-0.8783	4	.	.	.	-24.9633	7.0758	0.25203	0.3229:0.0:0.6771:0.0	.	.	.	.	A	411	.	.	P	-	1	0	APP	26249875	0.782000	0.28689	0.975000	0.42487	0.811000	0.45836	-0.105000	0.10907	0.869000	0.35703	0.655000	0.94253	CCT		0.483	APP-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171340.1	NM_000484		C	27328004	G	C	27328004	2	2	665	1	0	0	0	0	0	0	0	1	815	1219	43	4		4	APP	21	27328004	Silent	SNP	G	TCGA-GL-A59T-01A-21D-A28G-10		27328004	20801891	66	36323											
DIP2A	23181	hgsc.bcm.edu	37	21	47985760	47985761	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	TG	TG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr21:47985760_47985761delTG	ENST00000417564.2	+	36	4320_4321	c.4299_4300delTG	c.(4297-4302)cttggcfs	p.G1434fs	DIP2A_ENST00000400274.1_Frame_Shift_Del_p.G1430fs|DIP2A_ENST00000318711.7_Frame_Shift_Del_p.G1435fs|DIP2A_ENST00000479654.1_3'UTR			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	1434					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)		CCGGCTACCTTGGCTTCCTTCG	0.614																																																0																																										SO:0001589	frameshift_variant	23181			AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"chromosome 21 open reading frame 106"	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.4299_4300delTG	chr21.hg19:g.47985760_47985761delTG	ENSP00000392066:p.Gly1434fs		A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Frame_Shift_Del	DEL	ENST00000417564.2	hg19	CCDS46655.1																																																																																				0.614	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		-	47985761	TG	-	47985760	7	5	665	1	0	1	0	1	0	0	0	0	4529	1799	63	0	4554	0	DIP2A	21	47985760	Frame_Shift_Del	DEL	TG	TCGA-GL-A59T-01A-21D-A28G-10	20657756	47985760	144135	67	36324											
ARVCF	421	hgsc.bcm.edu	37	22	19967613	19967613	+	Missense_Mutation	SNP	C	C	A	rs376884775		TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr22:19967613C>A	ENST00000263207.3	-	6	1340	c.1049G>T	c.(1048-1050)cGc>cTc	p.R350L	ARVCF_ENST00000344269.3_Missense_Mutation_p.R287L|ARVCF_ENST00000406259.1_Missense_Mutation_p.R350L|ARVCF_ENST00000401994.1_Missense_Mutation_p.R287L|ARVCF_ENST00000487793.1_5'Flank|ARVCF_ENST00000406522.1_Missense_Mutation_p.R287L	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	350					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)					CGGCTCCTTGCGGGCGCTATC	0.726																																																0													5	7	6					22																	19967613		2043	3993	6036	SO:0001583	missense	421				CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"Armadillo repeat containing"	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.1049G>T	chr22.hg19:g.19967613C>A	ENSP00000263207:p.Arg350Leu		B7WNV2	Missense_Mutation	SNP	ENST00000263207.3	hg19	CCDS13771.1	.	.	.	.	.	.	.	.	.	.	C	32	5.120544	0.94385	.	.	ENSG00000099889	ENST00000263207;ENST00000344269;ENST00000401994;ENST00000406522;ENST00000406259	T;T;T;T;T	0.69435	-0.4;-0.34;-0.34;-0.34;-0.4	5.35	4.33	0.51752	Armadillo-like helical (1);	0.049736	0.85682	D	0.000000	T	0.61788	0.2375	L	0.38838	1.175	0.80722	D	1	P	0.49090	0.919	P	0.46850	0.529	T	0.60747	-0.7202	9	.	.	.	-18.2472	14.2537	0.66038	0.0:0.9281:0.0:0.0719	.	350	O00192	ARVC_HUMAN	L	350;287;287;287;350	ENSP00000263207:R350L;ENSP00000342042:R287L;ENSP00000384341:R287L;ENSP00000384732:R287L;ENSP00000385444:R350L	.	R	-	2	0	ARVCF	18347613	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.598000	0.67585	1.406000	0.46857	0.655000	0.94253	CGC		0.726	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075314.5	NM_001670		A	19967613	C	A	19967613	3	1	665	1	0	0	0	0	1	0	0	0	1003	768	27	4	1895	4	ARVCF	22	19967613	Missense_Mutation	SNP	C	TCGA-GL-A59T-01A-21D-A28G-10		19967613	31336953	68	36325											
CACNA1I	8911	hgsc.bcm.edu	37	22	40055466	40055466	+	Missense_Mutation	SNP	A	A	G			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr22:40055466A>G	ENST00000402142.3	+	13	2359	c.2359A>G	c.(2359-2361)Aag>Gag	p.K787E	CACNA1I_ENST00000407673.1_Missense_Mutation_p.K752E|CACNA1I_ENST00000400164.3_Missense_Mutation_p.K752E|CACNA1I_ENST00000404898.1_Missense_Mutation_p.K752E|CACNA1I_ENST00000336649.4_Missense_Mutation_p.K793E|CACNA1I_ENST00000401624.1_Missense_Mutation_p.K787E	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	787					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)	TTTTGGCTGCAAGTTCAGCCT	0.552																																																0													51	52	52					22																	40055466		2095	4208	6303	SO:0001583	missense	8911			AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.2359A>G	chr22.hg19:g.40055466A>G	ENSP00000385019:p.Lys787Glu		B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	hg19	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	A	27.2	4.813895	0.90790	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.98400	-4.91;-4.91;-4.91;-4.91;-4.91;-4.91	4.3	4.3	0.51218	Ion transport (1);	0.048588	0.85682	D	0.000000	D	0.98544	0.9514	M	0.69185	2.1	0.58432	D	0.999994	D;D;D;D	0.76494	0.999;0.998;0.999;0.999	D;D;D;D	0.85130	0.995;0.948;0.997;0.996	D	0.99593	1.0976	10	0.87932	D	0	.	13.8843	0.63699	1.0:0.0:0.0:0.0	.	752;787;752;787	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	E	787;752;787;752;793;752	ENSP00000385019:K787E;ENSP00000384093:K752E;ENSP00000383887:K787E;ENSP00000385680:K752E;ENSP00000337829:K793E;ENSP00000383028:K752E	ENSP00000337829:K793E	K	+	1	0	CACNA1I	38385412	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.849000	0.92178	1.920000	0.55613	0.459000	0.35465	AAG		0.552	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		G	40055466	A	G	40055466	3	3	665	1	0	0	0	0	1	0	0	0	2548	131	5	3	2409	3	CACNA1I	22	40055466	Missense_Mutation	SNP	A	TCGA-GL-A59T-01A-21D-A28G-10	20087853	40055466	11249100	69	36326											
WNT7B	7477	hgsc.bcm.edu	37	22	46319111	46319112	+	Frame_Shift_Ins	INS	-	-	C			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr22:46319111_46319112insC	ENST00000339464.4	-	4	1048_1049	c.674_675insG	c.(673-675)ggcfs	p.G225fs	WNT7B_ENST00000409496.3_Frame_Shift_Ins_p.G229fs|WNT7B_ENST00000410089.1_Frame_Shift_Ins_p.G209fs	NM_058238.2	NP_478679.1	P56706	WNT7B_HUMAN	wingless-type MMTV integration site family, member 7B	225					activation of JUN kinase activity (GO:0007257)|anatomical structure regression (GO:0060033)|apoptotic process involved in patterning of blood vessels (GO:1902262)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular metabolic process (GO:0044237)|cellular response to retinoic acid (GO:0071300)|central nervous system vasculogenesis (GO:0022009)|chorio-allantoic fusion (GO:0060710)|developmental growth involved in morphogenesis (GO:0060560)|embryonic organ development (GO:0048568)|embryonic placenta morphogenesis (GO:0060669)|establishment or maintenance of polarity of embryonic epithelium (GO:0016332)|fibroblast proliferation (GO:0048144)|forebrain regionalization (GO:0021871)|homeostatic process (GO:0042592)|in utero embryonic development (GO:0001701)|inner medullary collecting duct development (GO:0072061)|lens fiber cell development (GO:0070307)|lobar bronchus development (GO:0060482)|lung development (GO:0030324)|lung epithelium development (GO:0060428)|lung morphogenesis (GO:0060425)|lung-associated mesenchyme development (GO:0060484)|mammary gland epithelium development (GO:0061180)|metanephric collecting duct development (GO:0072205)|metanephric epithelium development (GO:0072207)|metanephric loop of Henle development (GO:0072236)|metanephros morphogenesis (GO:0003338)|negative regulation of smoothened signaling pathway (GO:0045879)|neuron differentiation (GO:0030182)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|outer medullary collecting duct development (GO:0072060)|oxygen homeostasis (GO:0032364)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of cell projection size (GO:0032536)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|response to glucocorticoid (GO:0051384)|smooth muscle cell differentiation (GO:0051145)|stem cell proliferation (GO:0072089)|synapse organization (GO:0050808)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	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)			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	19		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		TCAGCAGGTGGCCCACCTCTCG	0.649																																																0																																										SO:0001589	frameshift_variant	7477			AF416743	CCDS33667.1	22q13	2013-02-28			ENSG00000188064	ENSG00000188064		"Wingless-type MMTV integration sites", "Endogenous ligands"	12787	protein-coding gene	gene with protein product		601967				8168088, 9284940, 11562755	Standard	NM_058238		Approved		uc003bgo.2	P56706	OTTHUMG00000154636	ENST00000339464.4:c.675dupG	chr22.hg19:g.46319114_46319114dupC	ENSP00000341032:p.Gly225fs		B8A596|Q96Q12	Frame_Shift_Ins	INS	ENST00000339464.4	hg19	CCDS33667.1																																																																																				0.649	WNT7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336418.1	NM_058238		C	46319112	-	C	46319111	7	5	665	1	0	1	1	0	0	0	0	0	17400	1190	42	0	378	0	WNT7B	22	46319111	Frame_Shift_Ins	INS	-	TCGA-GL-A59T-01A-21D-A28G-10	6263645	46319111	4985455	70	36327											
PKDREJ	10343	hgsc.bcm.edu	37	22	46654194	46654194	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr22:46654194G>A	ENST00000253255.5	-	1	5025	c.5026C>T	c.(5026-5028)Cag>Tag	p.Q1676*		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1676					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)		CGGACGATCTGGTCATGTATC	0.418																																																0													200	166	178					22																	46654194		2203	4300	6503	SO:0001587	stop_gained	10343			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.5026C>T	chr22.hg19:g.46654194G>A	ENSP00000253255:p.Gln1676*		B1AJY3|O95850	Nonsense_Mutation	SNP	ENST00000253255.5	hg19	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	g	42	9.331670	0.99138	.	.	ENSG00000130943	ENST00000253255	.	.	.	4.95	-3.76	0.04359	.	1.756340	0.02965	N	0.143633	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-0.9396	3.1764	0.06570	0.1516:0.388:0.2844:0.1761	.	.	.	.	X	1676	.	ENSP00000253255:Q1676X	Q	-	1	0	PKDREJ	45032858	0.000000	0.05858	0.000000	0.03702	0.449000	0.32228	0.053000	0.14184	-0.308000	0.08792	0.298000	0.19748	CAG		0.418	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		A	46654194	G	A	46654194	4	1	665	1	0	0	0	0	0	1	0	0	11972	1357	47	2	1739	2	PKDREJ	22	46654194	Nonsense_Mutation	SNP	G	TCGA-GL-A59T-01A-21D-A28G-10	335083	46654194	4650372	71	36328											
TTC38	55020	hgsc.bcm.edu	37	22	46677589	46677589	+	Missense_Mutation	SNP	A	A	G			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr22:46677589A>G	ENST00000381031.3	+	7	785	c.709A>G	c.(709-711)Atg>Gtg	p.M237V	TTC38_ENST00000445282.2_Missense_Mutation_p.M179V	NM_017931.2	NP_060401	Q5R3I4	TTC38_HUMAN	tetratricopeptide repeat domain 38	237						extracellular vesicular exosome (GO:0070062)				endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						GTTGGAATTCATGCAGCACTC	0.512																																																0													125	128	127					22																	46677589		2092	4220	6312	SO:0001583	missense	55020				CCDS43030.1	22q13	2013-01-11			ENSG00000075234	ENSG00000075234		"Tetratricopeptide (TTC) repeat domain containing"	26082	protein-coding gene	gene with protein product							Standard	NM_017931		Approved	FLJ20699	uc003bhi.3	Q5R3I4	OTTHUMG00000150494	ENST00000381031.3:c.709A>G	chr22.hg19:g.46677589A>G	ENSP00000370419:p.Met237Val		Q8WV27|Q9NWP8	Missense_Mutation	SNP	ENST00000381031.3	hg19	CCDS43030.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.079821	0.76528	.	.	ENSG00000075234	ENST00000381031;ENST00000445282	T;T	0.75704	1.62;-0.96	5.79	5.79	0.91817	Tetratricopeptide-like helical (1);	0.072520	0.85682	D	0.000000	D	0.84320	0.5446	M	0.79693	2.465	0.58432	D	0.999992	D;D	0.62365	0.991;0.962	P;P	0.59171	0.853;0.523	D	0.84956	0.0874	10	0.42905	T	0.14	-12.5636	15.3166	0.74085	1.0:0.0:0.0:0.0	.	179;237	E7ES35;Q5R3I4	.;TTC38_HUMAN	V	237;179	ENSP00000370419:M237V;ENSP00000393960:M179V	ENSP00000370419:M237V	M	+	1	0	TTC38	45056253	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	4.319000	0.59197	2.207000	0.71202	0.533000	0.62120	ATG		0.512	TTC38-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000318469.1	NM_017931		G	46677589	A	G	46677589	3	3	665	1	0	0	0	0	1	0	0	0	16711	217	8	3	735	3	TTC38	22	46677589	Missense_Mutation	SNP	A	TCGA-GL-A59T-01A-21D-A28G-10	23395	46677589	4626977	72	36329											
WWC3	55841	hgsc.bcm.edu	37	X	10062249	10062249	+	Silent	SNP	A	A	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chrX:10062249A>T	ENST00000380861.4	+	7	976	c.585A>T	c.(583-585)gtA>gtT	p.V195V	WWC3_ENST00000454666.1_Silent_p.V195V	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	195					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						CTCACCATGTAGGCGTGCCTG	0.577																																																0													144	125	132					X																	10062249		2203	4300	6503	SO:0001819	synonymous_variant	55841			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.585A>T	chrX.hg19:g.10062249A>T			A8KA96|Q659C1|Q9BTQ1	Silent	SNP	ENST00000380861.4	hg19	CCDS14136.1																																																																																				0.577	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	NM_015691		T	10062249	A	T	10062249	2	4	665	1	0	0	0	0	0	0	0	1	17418	407	15	5		5	WWC3	23	10062249	Silent	SNP	A	TCGA-GL-A59T-01A-21D-A28G-10		10062249	145208311	73	36330											
HUWE1	10075	hgsc.bcm.edu	37	X	53584383	53584383	+	Silent	SNP	A	A	G			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chrX:53584383A>G	ENST00000342160.3	-	59	8623	c.8166T>C	c.(8164-8166)acT>acC	p.T2722T	MIR98_ENST00000606724.1_RNA|MIRLET7F2_ENST00000385277.1_RNA|HUWE1_ENST00000262854.6_Silent_p.T2722T			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2722					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						ACTTAGATGCAGTACACTGCA	0.428																																																0													137	122	127					X																	53584383		2203	4300	6503	SO:0001819	synonymous_variant	10075			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.8166T>C	chrX.hg19:g.53584383A>G			O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Silent	SNP	ENST00000342160.3	hg19	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	A	8.337	0.827732	0.16749	.	.	ENSG00000086758	ENST00000427052	.	.	.	5.64	0.708	0.18144	.	.	.	.	.	T	0.22126	0.0533	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.22695	-1.0209	4	.	.	.	.	3.0889	0.06286	0.3857:0.0:0.3048:0.3095	.	.	.	.	R	1756	.	.	C	-	1	0	HUWE1	53601108	0.001000	0.12720	0.177000	0.23020	0.915000	0.54546	0.717000	0.25851	0.266000	0.21894	0.486000	0.48141	TGC		0.428	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		G	53584383	A	G	53584383	2	3	665	1	0	0	0	0	0	0	0	1	7463	175	7	3		3	HUWE1	23	53584383	Silent	SNP	A	TCGA-GL-A59T-01A-21D-A28G-10	43522134	53584383	101686177	74	36331											
KIAA0562	9731	hgsc.bcm.edu	37	1	3742942	3742942	+	Silent	SNP	A	A	G			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr1:3742942A>G	ENST00000378230.3	-	17	2571	c.2247T>C	c.(2245-2247)taT>taC	p.Y749Y		NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	749						centriole (GO:0005814)	glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596)			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						ACTTATCTAGATAGTGCTCAT	0.463																																																0													84	79	80					1																	3742942		2203	4300	6503	SO:0001819	synonymous_variant	9731			AB011134	CCDS30571.1	1p36.32	2014-02-20	2011-05-06	2011-05-06	ENSG00000116198	ENSG00000116198			24866	protein-coding gene	gene with protein product	"glycine, glutamate, thienylcyclohexylpiperidine binding protein"		"KIAA0562"	KIAA0562		7488117, 21399614	Standard	NM_014704		Approved	GlyBP, RP1-286D6.4	uc001aky.2	O60308	OTTHUMG00000003507	ENST00000378230.3:c.2247T>C	chr1.hg19:g.3742942A>G			Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14	Silent	SNP	ENST00000378230.3	hg19	CCDS30571.1	.	.	.	.	.	.	.	.	.	.	A	0.033	-1.320509	0.01320	.	.	ENSG00000116198	ENST00000438539	.	.	.	4.52	-0.637	0.11504	.	.	.	.	.	T	0.31451	0.0797	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.30822	-0.9965	4	.	.	.	.	7.5619	0.27855	0.5592:0.0:0.4408:0.0	.	.	.	.	T	46	.	.	I	-	2	0	CEP104	3732802	0.000000	0.05858	0.001000	0.08648	0.188000	0.23474	-0.889000	0.04144	-0.294000	0.08973	-0.408000	0.06270	ATC		0.463	CEP104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009747.3	NM_014704		G	3742942	A	G	3742942	2	3	666	1	0	0	0	0	0	0	0	1	8186	340	12	3		3	KIAA0562	1	3742942	Silent	SNP	A	TCGA-GL-A9DC-01A-11D-A36X-10		3742942	245507679	1	36332											
PRAMEF2	65122	hgsc.bcm.edu	37	1	12918882	12918890	+	In_Frame_Del	DEL	ACCGAGACT	ACCGAGACT	-	rs149417814|rs17404792|rs138447851	byFrequency	TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	ACCGAGACT	ACCGAGACT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr1:12918882_12918890delACCGAGACT	ENST00000240189.2	+	2	105_113	c.18_26delACCGAGACT	c.(16-27)ccaccgagacta>cca	p.PRL7del		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	7					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)		TCCAGGCCCCACCGAGACTACTGGAGCTG	0.55																																																0																																										SO:0001651	inframe_deletion	65122				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.18_26delACCGAGACT	chr1.hg19:g.12918882_12918890delACCGAGACT	ENSP00000240189:p.Pro7_Leu9del			In_Frame_Del	DEL	ENST00000240189.2	hg19	CCDS149.1																																																																																				0.55	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		-	12918890	ACCGAGACT	-	12918882	7	5	666	1	0	1	0	1	0	0	0	0	12440	146	6	0	20	0	PRAMEF2	1	12918882	In_Frame_Del	DEL	ACCGAGACT	TCGA-GL-A9DC-01A-11D-A36X-10	9175940	12918882	236331739	2	36333											
SFPQ	6421	hgsc.bcm.edu	37	1	35650120	35650120	+	Silent	SNP	A	A	T			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr1:35650120A>T	ENST00000357214.5	-	10	2159	c.2061T>A	c.(2059-2061)acT>acA	p.T687T		NM_005066.2	NP_005057.1	P23246	SFPQ_HUMAN	splicing factor proline/glutamine-rich	687					alternative mRNA splicing, via spliceosome (GO:0000380)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H3 deacetylation (GO:0070932)|mRNA processing (GO:0006397)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|histone deacetylase binding (GO:0042826)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)		SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				ATCCTGCTGGAGTTCCAGGCC	0.488			T	TFE3	papillary renal cell																																		Dom	yes		1	1p34.3	6421	splicing factor proline/glutamine rich(polypyrimidine tract binding protein associated)		E	0													128	127	128					1																	35650120		2203	4300	6503	SO:0001819	synonymous_variant	6421			X70944	CCDS388.1	1p34.3	2014-06-13	2010-05-04		ENSG00000116560	ENSG00000116560		"RNA binding motif (RRM) containing"	10774	protein-coding gene	gene with protein product	"polypyrimidine tract binding protein associated", "protein phosphatase 1, regulatory subunit 140"	605199	"splicing factor proline/glutamine rich (polypyrimidine tract-binding protein-associated)"			8449401	Standard	NM_005066		Approved	PSF, PPP1R140	uc001bys.3	P23246	OTTHUMG00000004157	ENST00000357214.5:c.2061T>A	chr1.hg19:g.35650120A>T			P30808|Q5SZ71	Silent	SNP	ENST00000357214.5	hg19	CCDS388.1																																																																																				0.488	SFPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011984.4	NM_005066		T	35650120	A	T	35650120	2	4	666	1	0	0	0	0	0	0	0	1	14166	291	11	5		5	SFPQ	1	35650120	Silent	SNP	A	TCGA-GL-A9DC-01A-11D-A36X-10	22731238	35650120	213600501	3	36334											
ZMPSTE24	10269	hgsc.bcm.edu	37	1	40724001	40724001	+	Missense_Mutation	SNP	T	T	A			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr1:40724001T>A	ENST00000372759.3	+	1	223	c.58T>A	c.(58-60)Ttc>Atc	p.F20I	RP1-39G22.7_ENST00000567508.1_RNA|ZMPSTE24_ENST00000479131.1_3'UTR	NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	20					CAAX-box protein processing (GO:0071586)|nuclear envelope organization (GO:0006998)|prenylated protein catabolic process (GO:0030327)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metalloexopeptidase activity (GO:0008235)			endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			GAAGCGTATCTTCGGGGCCGT	0.627																																																0													123	106	112					1																	40724001		2203	4300	6503	SO:0001583	missense	10269			Y13834	CCDS449.1	1p34	2014-09-17	2012-12-10		ENSG00000084073	ENSG00000084073	3.4.24.84		12877	protein-coding gene	gene with protein product	"Hutchinson-Gilford progeria syndrome", "CAAX prenyl protease 1 homolog"	606480	"zinc metalloproteinase (STE24 homolog, yeast)", "zinc metallopeptidase (STE24 homolog, yeast)", "zinc metallopeptidase STE24 homolog (S. cerevisiae)"			10373325, 9700155, 16671095	Standard	NM_005857		Approved	FACE-1, Ste24p, STE24, HGPS, PRO1	uc001cfg.4	O75844	OTTHUMG00000005762	ENST00000372759.3:c.58T>A	chr1.hg19:g.40724001T>A	ENSP00000361845:p.Phe20Ile		B3KQI7|D3DPU7|Q8NDZ8|Q9UBQ2	Missense_Mutation	SNP	ENST00000372759.3	hg19	CCDS449.1	.	.	.	.	.	.	.	.	.	.	T	36	5.971807	0.97162	.	.	ENSG00000084073	ENST00000372759	T	0.00902	5.56	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.04452	0.0122	M	0.71036	2.16	0.80722	D	1	D	0.69078	0.997	P	0.62560	0.904	T	0.36866	-0.9730	10	0.59425	D	0.04	-16.1505	15.3325	0.74226	0.0:0.0:0.0:1.0	.	20	O75844	FACE1_HUMAN	I	20	ENSP00000361845:F20I	ENSP00000361845:F20I	F	+	1	0	ZMPSTE24	40496588	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.016000	0.76393	2.026000	0.59711	0.533000	0.62120	TTC		0.627	ZMPSTE24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015766.1			A	40724001	T	A	40724001	3	1	666	1	0	0	0	0	1	0	0	0	17703	1609	56	5	60	5	ZMPSTE24	1	40724001	Missense_Mutation	SNP	T	TCGA-GL-A9DC-01A-11D-A36X-10	5073881	40724001	208526620	4	36335											
FOXD2	2306	hgsc.bcm.edu	37	1	47905188	47905188	+	Missense_Mutation	SNP	G	G	C			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr1:47905188G>C	ENST00000334793.5	+	1	3500	c.1381G>C	c.(1381-1383)Gct>Cct	p.A461P		NM_004474.3	NP_004465.3	O60548	FOXD2_HUMAN	forkhead box D2	461	Ala-rich.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(4)	4				READ - Rectum adenocarcinoma(2;0.0908)		TCCGGCCCTGGCTCCCGTTGC	0.721																																																0													5	6	5					1																	47905188		2041	4122	6163	SO:0001583	missense	2306			AF042832	CCDS30708.1	1p34-p32	2008-02-05			ENSG00000186564	ENSG00000186564		"Forkhead boxes"	3803	protein-coding gene	gene with protein product		602211		FKHL17		9403061, 12621056	Standard	NM_004474		Approved	FREAC9	uc001crm.3	O60548	OTTHUMG00000007950	ENST00000334793.5:c.1381G>C	chr1.hg19:g.47905188G>C	ENSP00000335493:p.Ala461Pro		Q5SVZ3	Missense_Mutation	SNP	ENST00000334793.5	hg19	CCDS30708.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.439685	0.43326	.	.	ENSG00000186564	ENST00000334793	T	0.57436	0.4	4.46	2.37	0.29283	.	1.733230	0.03641	U	0.239565	T	0.44850	0.1313	L	0.29908	0.895	0.32396	N	0.552538	B	0.09022	0.002	B	0.08055	0.003	T	0.46303	-0.9201	10	0.72032	D	0.01	.	9.3432	0.38093	0.2205:0.0:0.7795:0.0	.	461	O60548	FOXD2_HUMAN	P	461	ENSP00000335493:A461P	ENSP00000335493:A461P	A	+	1	0	FOXD2	47677775	1.000000	0.71417	0.993000	0.49108	0.782000	0.44232	2.417000	0.44653	1.039000	0.40074	0.561000	0.74099	GCT		0.721	FOXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021831.1	NM_004474		C	47905188	G	C	47905188	3	2	666	1	0	0	0	0	1	0	0	0	5999	1203	42	4	1383	4	FOXD2	1	47905188	Missense_Mutation	SNP	G	TCGA-GL-A9DC-01A-11D-A36X-10	7181187	47905188	201345433	5	36336											
DCST2	127579	hgsc.bcm.edu	37	1	155005652	155005652	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr1:155005652delG	ENST00000368424.3	-	2	415	c.357delC	c.(355-357)gccfs	p.A119fs	DCST1_ENST00000392480.1_5'Flank|DCST1_ENST00000368419.2_5'Flank|DCST1_ENST00000423025.2_5'Flank|DCST2_ENST00000295536.5_Frame_Shift_Del_p.A119fs|DCST1_ENST00000295542.1_5'Flank	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	119						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)			CAGCCTCGCTGGCCCGGGTGA	0.617																																																0													52	50	51					1																	155005652		2203	4300	6503	SO:0001589	frameshift_variant	127579			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.357delC	chr1.hg19:g.155005652delG	ENSP00000357409:p.Ala119fs		Q2M2R2|Q8N810|Q96M03	Frame_Shift_Del	DEL	ENST00000368424.3	hg19	CCDS1082.2																																																																																				0.617	DCST2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090953.3	NM_144622		-	155005652	G	-	155005652	7	5	666	1	0	1	0	1	0	0	0	0	4305	1335	47	0	2020	0	DCST2	1	155005652	Frame_Shift_Del	DEL	G	TCGA-GL-A9DC-01A-11D-A36X-10	107100464	155005652	94244969	6	36337											
BCAN	63827	hgsc.bcm.edu	37	1	156622136	156622136	+	Missense_Mutation	SNP	A	A	C			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr1:156622136A>C	ENST00000329117.5	+	8	1730	c.1394A>C	c.(1393-1395)aAa>aCa	p.K465T	BCAN_ENST00000361588.5_Missense_Mutation_p.K465T|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	465	Glu-rich.				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)					gaagaagagaaagaggaggaa	0.542																																																0													26	26	26					1																	156622136		2203	4300	6503	SO:0001583	missense	63827			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.1394A>C	chr1.hg19:g.156622136A>C	ENSP00000331210:p.Lys465Thr		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	ENST00000329117.5	hg19	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	A	0.144	-1.098712	0.01843	.	.	ENSG00000132692	ENST00000255029;ENST00000329117;ENST00000361588	T;T	0.14766	2.48;3.22	3.69	-0.137	0.13469	.	3.115980	0.01588	N	0.021411	T	0.01765	0.0056	N	0.14661	0.345	0.09310	N	1	B;B	0.26400	0.148;0.0	B;B	0.24155	0.051;0.001	T	0.33548	-0.9864	10	0.11485	T	0.65	0.0752	3.617	0.08081	0.3722:0.3192:0.0:0.3087	.	465;465	Q96GW7;Q96GW7-2	PGCB_HUMAN;.	T	404;465;465	ENSP00000331210:K465T;ENSP00000354925:K465T	ENSP00000255029:K404T	K	+	2	0	BCAN	154888760	0.005000	0.15991	0.003000	0.11579	0.429000	0.31625	0.189000	0.17037	-0.229000	0.09854	0.454000	0.30748	AAA		0.542	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		C	156622136	A	C	156622136	3	2	666	1	0	0	0	0	1	0	0	0	1345	14	1	5	1420	5	BCAN	1	156622136	Missense_Mutation	SNP	A	TCGA-GL-A9DC-01A-11D-A36X-10	1616484	156622136	92628485	7	36338											
LAMC1	3915	hgsc.bcm.edu	37	1	183090998	183090998	+	Missense_Mutation	SNP	G	G	A			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr1:183090998G>A	ENST00000258341.4	+	12	2388	c.2131G>A	c.(2131-2133)Gaa>Aaa	p.E711K		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	711	Laminin EGF-like 5; second part. {ECO:0000255|PROSITE-ProRule:PRU00460}.				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)			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						TTACAGAAGAGAAACTCCTAA	0.532																																																0													171	152	159					1																	183090998		2203	4300	6503	SO:0001583	missense	3915			J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"Laminins"	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.2131G>A	chr1.hg19:g.183090998G>A	ENSP00000258341:p.Glu711Lys		Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	hg19	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	G	18.95	3.731851	0.69189	.	.	ENSG00000135862	ENST00000258341	T	0.30182	1.54	5.17	5.17	0.71159	EGF-like, laminin (1);	0.309234	0.36444	N	0.002581	T	0.38931	0.1059	M	0.84846	2.72	0.48632	D	0.999681	P	0.44627	0.839	B	0.39379	0.298	T	0.48198	-0.9056	10	0.10636	T	0.68	.	18.6846	0.91559	0.0:0.0:1.0:0.0	.	711	P11047	LAMC1_HUMAN	K	711	ENSP00000258341:E711K	ENSP00000258341:E711K	E	+	1	0	LAMC1	181357621	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.571000	0.53841	2.402000	0.81655	0.655000	0.94253	GAA		0.532	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		A	183090998	G	A	183090998	3	1	666	1	0	0	0	0	1	0	0	0	8616	943	33	2	2177	2	LAMC1	1	183090998	Missense_Mutation	SNP	G	TCGA-GL-A9DC-01A-11D-A36X-10	26468862	183090998	66159623	8	36339											
PLXNA2	5362	hgsc.bcm.edu	37	1	208390905	208390905	+	Silent	SNP	G	G	A			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr1:208390905G>A	ENST00000367033.3	-	2	1120	c.363C>T	c.(361-363)taC>taT	p.Y121Y		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	121	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GGTTCTCAGAGTAGTCAATGA	0.572																																																0													102	105	104					1																	208390905		2203	4300	6503	SO:0001819	synonymous_variant	5362			X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"Plexins"	9100	protein-coding gene	gene with protein product	"plexin 2", "plexin-A2", "semaphorin receptor OCT", "transmembrane protein OCT"	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.363C>T	chr1.hg19:g.208390905G>A			A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Silent	SNP	ENST00000367033.3	hg19	CCDS31013.1																																																																																				0.572	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		A	208390905	G	A	208390905	2	1	666	1	0	0	0	0	0	0	0	1	12122	1024	36	2		2	PLXNA2	1	208390905	Silent	SNP	G	TCGA-GL-A9DC-01A-11D-A36X-10	25299907	208390905	40859716	9	36340											
KCNH1	3756	hgsc.bcm.edu	37	1	211093156	211093156	+	Missense_Mutation	SNP	A	A	T			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr1:211093156A>T	ENST00000271751.4	-	7	1315	c.1288T>A	c.(1288-1290)Tac>Aac	p.Y430N	KCNH1_ENST00000367007.4_Missense_Mutation_p.Y403N			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	430					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)		TTAAACTGGTAAGGGGTGCCA	0.507																																																0													190	169	176					1																	211093156		2203	4300	6503	SO:0001583	missense	3756			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.1288T>A	chr1.hg19:g.211093156A>T	ENSP00000271751:p.Tyr430Asn		B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	ENST00000271751.4	hg19	CCDS1496.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.521034	0.85495	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.99186	-5.44;-5.53	5.8	5.8	0.92144	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99130	0.9700	M	0.76574	2.34	0.80722	D	1	D;D	0.58970	0.984;0.984	D;D	0.68483	0.958;0.958	D	0.99651	1.0991	10	0.87932	D	0	.	15.3272	0.74176	1.0:0.0:0.0:0.0	.	403;430	Q14CL3;O95259	.;KCNH1_HUMAN	N	430;403	ENSP00000271751:Y430N;ENSP00000355974:Y403N	ENSP00000271751:Y430N	Y	-	1	0	KCNH1	209159779	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.999000	0.93557	2.219000	0.72066	0.533000	0.62120	TAC		0.507	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238		T	211093156	A	T	211093156	3	4	666	1	0	0	0	0	1	0	0	0	8033	362	13	5	1701	5	KCNH1	1	211093156	Missense_Mutation	SNP	A	TCGA-GL-A9DC-01A-11D-A36X-10	2702251	211093156	38157465	10	36341											
PTPN14	5784	hgsc.bcm.edu	37	1	214588010	214588010	+	Frame_Shift_Del	DEL	A	A	-			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr1:214588010delA	ENST00000366956.5	-	4	598	c.404delT	c.(403-405)ttgfs	p.L135fs	PTPN14_ENST00000543945.1_Frame_Shift_Del_p.L135fs	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	135	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				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)		CACCTGGTCCAATGTACATCG	0.423																																					Colon(92;557 1424 24372 34121 40073)											0													287	259	269					1																	214588010		2203	4300	6503	SO:0001589	frameshift_variant	5784			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.404delT	chr1.hg19:g.214588010delA	ENSP00000355923:p.Leu135fs		Q5VSI0	Frame_Shift_Del	DEL	ENST00000366956.5	hg19	CCDS1514.1																																																																																				0.423	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		-	214588010	A	-	214588010	7	5	666	1	0	1	0	1	0	0	0	0	12789	131	5	0	3223	0	PTPN14	1	214588010	Frame_Shift_Del	DEL	A	TCGA-GL-A9DC-01A-11D-A36X-10	3494854	214588010	34662611	11	36342											
TMEM63A	9725	hgsc.bcm.edu	37	1	226050526	226050526	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr1:226050526C>T	ENST00000366835.3	-	11	1042	c.772G>A	c.(772-774)Gtt>Att	p.V258I	TMEM63A_ENST00000474478.1_5'UTR|TMEM63A_ENST00000537914.1_5'UTR	NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A	258					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					TGCACATCAACCACCTCACAC	0.577																																																0													109	78	88					1																	226050526		2203	4300	6503	SO:0001583	missense	9725				CCDS31042.1	1q42.12	2008-02-05	2005-07-25	2005-07-25	ENSG00000196187	ENSG00000196187			29118	protein-coding gene	gene with protein product			"KIAA0792"	KIAA0792		9872452, 9455484	Standard	NM_014698		Approved		uc001hpm.2	O94886	OTTHUMG00000037442	ENST00000366835.3:c.772G>A	chr1.hg19:g.226050526C>T	ENSP00000355800:p.Val258Ile		Q53GI7|Q5TE96|Q8N2U2	Missense_Mutation	SNP	ENST00000366835.3	hg19	CCDS31042.1	.	.	.	.	.	.	.	.	.	.	C	7.629	0.678465	0.14841	.	.	ENSG00000196187	ENST00000366835	T	0.44482	0.92	5.84	4.91	0.64330	Nucleotide-binding, alpha-beta plait (1);	0.632722	0.17914	N	0.157757	T	0.39009	0.1062	L	0.48362	1.52	0.80722	D	1	B	0.20550	0.046	B	0.17098	0.017	T	0.13710	-1.0499	10	0.38643	T	0.18	-16.8033	15.0439	0.71813	0.0:0.7315:0.2685:0.0	.	258	O94886	TM63A_HUMAN	I	258	ENSP00000355800:V258I	ENSP00000355800:V258I	V	-	1	0	TMEM63A	224117149	0.573000	0.26676	1.000000	0.80357	0.258000	0.26162	0.886000	0.28241	1.448000	0.47680	0.561000	0.74099	GTT		0.577	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091154.2	NM_014698		T	226050526	C	T	226050526	3	4	666	1	0	0	0	0	1	0	0	0	16195	507	18	2	1707	2	TMEM63A	1	226050526	Missense_Mutation	SNP	C	TCGA-GL-A9DC-01A-11D-A36X-10	11462516	226050526	23200095	12	36343											
NCOA1	8648	hgsc.bcm.edu	37	2	24930212	24930212	+	Frame_Shift_Del	DEL	A	A	-			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr2:24930212delA	ENST00000406961.1	+	13	2525	c.1873delA	c.(1873-1875)aaafs	p.K625fs	NCOA1_ENST00000395856.3_Frame_Shift_Del_p.K625fs|NCOA1_ENST00000288599.5_Frame_Shift_Del_p.K625fs|NCOA1_ENST00000538539.1_Frame_Shift_Del_p.K625fs|NCOA1_ENST00000405141.1_Frame_Shift_Del_p.K625fs|NCOA1_ENST00000348332.3_Frame_Shift_Del_p.K625fs|NCOA1_ENST00000407230.1_Frame_Shift_Del_p.K474fs			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	625	Ser-rich.				androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|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)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|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)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGAGACAGTAAATACTCTCA	0.418			T	PAX3	alveolar rhadomyosarcoma																																		Dom	yes		2	2p23	8648	nuclear receptor coactivator 1		M	0													52	50	51					2																	24930212		2203	4300	6503	SO:0001589	frameshift_variant	8648			U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.1873delA	chr2.hg19:g.24930212delA	ENSP00000385216:p.Lys625fs		O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Frame_Shift_Del	DEL	ENST00000406961.1	hg19	CCDS1712.1																																																																																				0.418	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3	NM_147223		-	24930212	A	-	24930212	7	5	666	1	0	1	0	1	0	0	0	0	10230	363	13	0	1907	0	NCOA1	2	24930212	Frame_Shift_Del	DEL	A	TCGA-GL-A9DC-01A-11D-A36X-10		24930212	218269161	13	36344											
PLEKHH2	130271	hgsc.bcm.edu	37	2	43986044	43986044	+	Missense_Mutation	SNP	T	T	G			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr2:43986044T>G	ENST00000282406.4	+	27	4057	c.3947T>G	c.(3946-3948)cTt>cGt	p.L1316R		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1316	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				tttAGGCAGCTTTGCCAGCGA	0.423																																																0													36	35	35					2																	43986044		2203	4300	6503	SO:0001583	missense	130271			AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"Pleckstrin homology (PH) domain containing"	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.3947T>G	chr2.hg19:g.43986044T>G	ENSP00000282406:p.Leu1316Arg		Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	hg19	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.580076	0.86645	.	.	ENSG00000152527	ENST00000282406	T	0.81415	-1.49	5.66	5.66	0.87406	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	0.89976	0.6871	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91227	0.5011	10	0.72032	D	0.01	-17.0245	15.8843	0.79232	0.0:0.0:0.0:1.0	.	1316	Q8IVE3	PKHH2_HUMAN	R	1316	ENSP00000282406:L1316R	ENSP00000282406:L1316R	L	+	2	0	PLEKHH2	43839548	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	7.698000	0.84413	2.164000	0.68074	0.533000	0.62120	CTT		0.423	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		G	43986044	T	G	43986044	3	3	666	1	0	0	0	0	1	0	0	0	12079	1609	56	5	4049	5	PLEKHH2	2	43986044	Missense_Mutation	SNP	T	TCGA-GL-A9DC-01A-11D-A36X-10	19055832	43986044	199213329	14	36345											
EPAS1	2034	hgsc.bcm.edu	37	2	46605215	46605215	+	Missense_Mutation	SNP	A	A	T			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr2:46605215A>T	ENST00000263734.3	+	10	1942	c.1432A>T	c.(1432-1434)Agc>Tgc	p.S478C		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	478	Poly-Ser.				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)			CAGCAGCAGCAGCTGCTCCAC	0.652																																																0													10	10	10					2																	46605215		2180	4275	6455	SO:0001583	missense	2034			U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"Basic helix-loop-helix proteins"	3374	protein-coding gene	gene with protein product	"HIF-1 alpha-like factor"	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.1432A>T	chr2.hg19:g.46605215A>T	ENSP00000263734:p.Ser478Cys		Q86VA2|Q99630	Missense_Mutation	SNP	ENST00000263734.3	hg19	CCDS1825.1	.	.	.	.	.	.	.	.	.	.	A	18.75	3.689835	0.68271	.	.	ENSG00000116016	ENST00000263734	T	0.56444	0.46	5.58	3.23	0.37069	.	0.981388	0.08371	N	0.956092	T	0.67287	0.2877	M	0.76574	2.34	0.37050	D	0.897573	D	0.62365	0.991	P	0.59288	0.855	T	0.59553	-0.7433	10	0.37606	T	0.19	.	9.6414	0.39842	0.8591:0.0:0.1409:0.0	.	478	Q99814	EPAS1_HUMAN	C	478	ENSP00000263734:S478C	ENSP00000263734:S478C	S	+	1	0	EPAS1	46458719	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	4.474000	0.60203	0.427000	0.26145	0.533000	0.62120	AGC		0.652	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	NM_001430		T	46605215	A	T	46605215	3	4	666	1	0	0	0	0	1	0	0	0	5152	188	7	5	1470	5	EPAS1	2	46605215	Missense_Mutation	SNP	A	TCGA-GL-A9DC-01A-11D-A36X-10	2619171	46605215	196594158	15	36346											
KCMF1	56888	hgsc.bcm.edu	37	2	85276536	85276536	+	Missense_Mutation	SNP	C	C	A			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr2:85276536C>A	ENST00000409785.4	+	6	1008	c.649C>A	c.(649-651)Ctt>Att	p.L217I		NM_020122.4	NP_064507.3	Q9P0J7	KCMF1_HUMAN	potassium channel modulatory factor 1	217							ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			ovary(3)	3						AGGAGGACAGCTTAATTCCTC	0.478																																																0													111	117	115					2																	85276536		2131	4242	6373	SO:0001583	missense	56888			AF155652	CCDS46350.1	2p11.2	2010-11-23			ENSG00000176407	ENSG00000176407		"Zinc fingers, ZZ-type"	20589	protein-coding gene	gene with protein product		614719					Standard	NM_020122		Approved	DEBT91, PCMF, DKFZP434L1021, ZZZ1	uc002sox.4	Q9P0J7	OTTHUMG00000153004	ENST00000409785.4:c.649C>A	chr2.hg19:g.85276536C>A	ENSP00000386738:p.Leu217Ile		Q4ZG04|Q53SC7|Q9BWK2|Q9H8P5|Q9UFE8	Missense_Mutation	SNP	ENST00000409785.4	hg19	CCDS46350.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.844635	0.51164	.	.	ENSG00000176407	ENST00000409785	T	0.48522	0.81	5.96	5.96	0.96718	Drought induced 19/ RING finger protein 114 (1);	0.111308	0.64402	D	0.000008	T	0.32526	0.0832	N	0.08118	0	0.44966	D	0.997988	B	0.15930	0.015	B	0.21360	0.034	T	0.08513	-1.0718	10	0.37606	T	0.19	-15.8537	17.9158	0.88950	0.0:1.0:0.0:0.0	.	217	Q9P0J7	KCMF1_HUMAN	I	217	ENSP00000386738:L217I	ENSP00000386738:L217I	L	+	1	0	KCMF1	85130047	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.484000	0.53201	2.832000	0.97577	0.655000	0.94253	CTT		0.478	KCMF1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328942.4	NM_020122		A	85276536	C	A	85276536	3	1	666	1	0	0	0	0	1	0	0	0	8002	797	28	4	671	4	KCMF1	2	85276536	Missense_Mutation	SNP	C	TCGA-GL-A9DC-01A-11D-A36X-10	38671321	85276536	157922837	16	36347											
KDM3A	55818	hgsc.bcm.edu	37	2	86709141	86709141	+	Missense_Mutation	SNP	T	T	A	rs144469383	byFrequency	TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr2:86709141T>A	ENST00000409556.1	+	18	2966	c.2601T>A	c.(2599-2601)caT>caA	p.H867Q	KDM3A_ENST00000312912.5_Missense_Mutation_p.H867Q|KDM3A_ENST00000409064.1_Missense_Mutation_p.H867Q|KDM3A_ENST00000542128.1_Missense_Mutation_p.H815Q			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	867					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						CAGTCCTCCATACGTTTAACA	0.383																																					NSCLC(96;1150 1523 6936 46253 49736)											0													157	147	150					2																	86709141		2203	4300	6503	SO:0001583	missense	55818			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.2601T>A	chr2.hg19:g.86709141T>A	ENSP00000386660:p.His867Gln		D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Missense_Mutation	SNP	ENST00000409556.1	hg19	CCDS1990.1	.	.	.	.	.	.	.	.	.	.	T	0.181	-1.061940	0.01950	.	.	ENSG00000115548	ENST00000409556;ENST00000540058;ENST00000312912;ENST00000409064;ENST00000542128	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	5.8	-4.8	0.03190	.	0.158851	0.45606	N	0.000360	T	0.21347	0.0514	N	0.11560	0.145	0.20489	N	0.999898	B;B	0.13145	0.007;0.004	B;B	0.20577	0.03;0.013	T	0.21861	-1.0233	10	0.12103	T	0.63	.	4.2025	0.10473	0.1625:0.1718:0.0861:0.5796	.	815;867	F5H070;Q9Y4C1	.;KDM3A_HUMAN	Q	867;867;867;867;815	ENSP00000386660:H867Q;ENSP00000323659:H867Q;ENSP00000386516:H867Q;ENSP00000438324:H815Q	ENSP00000323659:H867Q	H	+	3	2	KDM3A	86562652	0.737000	0.28175	0.337000	0.25536	0.581000	0.36288	-0.439000	0.06897	-2.060000	0.00893	-2.501000	0.00191	CAT		0.383	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252522.2	NM_018433		A	86709141	T	A	86709141	3	1	666	1	0	0	0	0	1	0	0	0	8128	1403	49	5	2663	5	KDM3A	2	86709141	Missense_Mutation	SNP	T	TCGA-GL-A9DC-01A-11D-A36X-10	1432605	86709141	156490232	17	36348											
RNF103	7844	hgsc.bcm.edu	37	2	86839326	86839326	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr2:86839326delT	ENST00000237455.4	-	3	1406	c.438delA	c.(436-438)agafs	p.R146fs	AC015971.2_ENST00000597638.1_RNA|AC015971.2_ENST00000424788.1_RNA|AC015971.2_ENST00000426549.1_RNA|RNF103_ENST00000477307.1_5'UTR|CHMP3_ENST00000439940.2_Intron|RNF103-CHMP3_ENST00000604011.1_Intron|AC015971.2_ENST00000439077.1_RNA	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	146					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						GTATTCCAAATCTTGACACCT	0.378																																																0													133	126	128					2																	86839326		2203	4300	6503	SO:0001589	frameshift_variant	7844			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.438delA	chr2.hg19:g.86839326delT	ENSP00000237455:p.Arg146fs		A6NFV6|B2RAG4|Q53SU6|Q8IVB9	Frame_Shift_Del	DEL	ENST00000237455.4	hg19	CCDS33237.1																																																																																				0.378	RNF103-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330041.2	NM_005667		-	86839326	T	-	86839326	7	5	666	1	0	1	0	1	0	0	0	0	13429	1432	50	0	1627	0	RNF103	2	86839326	Frame_Shift_Del	DEL	T	TCGA-GL-A9DC-01A-11D-A36X-10	130185	86839326	156360047	18	36349											
CNNM3	26505	hgsc.bcm.edu	37	2	97494855	97494855	+	Missense_Mutation	SNP	G	G	C			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr2:97494855G>C	ENST00000305510.3	+	7	2071	c.2043G>C	c.(2041-2043)aaG>aaC	p.K681N	CNNM3_ENST00000480035.1_3'UTR|CNNM3_ENST00000377060.3_Missense_Mutation_p.K633N|ANKRD23_ENST00000476975.1_Intron	NM_017623.4	NP_060093.3	Q8NE01	CNNM3_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 3	681					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						TTGGTGAGAAGACCACCACAG	0.612																																																0													69	70	70					2																	97494855		2203	4300	6503	SO:0001583	missense	26505			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.2043G>C	chr2.hg19:g.97494855G>C	ENSP00000305449:p.Lys681Asn		B3KX67|Q8TBV4|Q96IW4|Q9NRK4|Q9NXW6	Missense_Mutation	SNP	ENST00000305510.3	hg19	CCDS2025.1	.	.	.	.	.	.	.	.	.	.	G	10.77	1.445374	0.25987	.	.	ENSG00000168763	ENST00000377060;ENST00000424641;ENST00000305510	D;D	0.91740	-2.58;-2.9	5.56	3.74	0.42951	.	0.845028	0.10091	N	0.717179	D	0.86981	0.6064	L	0.38531	1.155	0.58432	D	0.999996	B;B	0.27823	0.016;0.19	B;B	0.28709	0.015;0.093	T	0.76650	-0.2881	10	0.25106	T	0.35	-13.8197	8.2356	0.31625	0.2409:0.0:0.7591:0.0	.	633;681	Q8NE01-2;Q8NE01	.;CNNM3_HUMAN	N	633;633;681	ENSP00000366260:K633N;ENSP00000305449:K681N	ENSP00000305449:K681N	K	+	3	2	CNNM3	96858582	0.992000	0.36948	0.489000	0.27452	0.352000	0.29268	3.142000	0.50601	0.684000	0.31448	0.655000	0.94253	AAG		0.612	CNNM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252952.2	NM_017623		C	97494855	G	C	97494855	3	2	666	1	0	0	0	0	1	0	0	0	3616	933	33	4	2069	4	CNNM3	2	97494855	Missense_Mutation	SNP	G	TCGA-GL-A9DC-01A-11D-A36X-10	10655529	97494855	145704518	19	36350											
ZC3H6	376940	hgsc.bcm.edu	37	2	113089842	113089843	+	Missense_Mutation	DNP	AC	AC	GG	rs371812950		TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	A|C	A|C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr2:113089842_113089843AC>GG	ENST00000409871.1	+	12	3748_3749	c.3347_3348AC>GG	c.(3346-3348)gAC>gGG	p.D1116G	ZC3H6_ENST00000343936.4_Missense_Mutation_p.D1116G|AC115115.2_ENST00000607612.1_RNA	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	1116							metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						CCACAGGCGGACGTTCCCAGGA	0.535																																																0																																										SO:0001583	missense	376940			AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"Zinc fingers, CCCH-type domain containing"	24762	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 6"	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	Exception_encountered	chr2.hg19:g.113089842_113089843delinsGG	ENSP00000386764:p.Asp1116Gly		A9JR71|Q6ZW96	Missense_Mutation	SNP	ENST00000409871.1	hg19	CCDS46393.1																																																																																				0.535	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330551.1	NM_198581		GG	113089843	AC	GG	113089842	3	3	666	1	0	0	0	0	1	0	0	0	17576	275	10	3	3393	3	ZC3H6	2	113089842	Missense_Mutation	DNP	AC	TCGA-GL-A9DC-01A-11D-A36X-10	15594987	113089842	130109531	20	36351											
GLI2	2736	hgsc.bcm.edu	37	2	121746958	121746958	+	Silent	SNP	C	C	G			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr2:121746958C>G	ENST00000452319.1	+	14	3528	c.3468C>G	c.(3466-3468)gcC>gcG	p.A1156A	GLI2_ENST00000314490.11_Intron|GLI2_ENST00000361492.4_Silent_p.A1156A					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)				CCGTAGACGCCCTGGCCAGCC	0.617																																																0													27	25	26					2																	121746958		2177	4259	6436	SO:0001819	synonymous_variant	2736				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.3468C>G	chr2.hg19:g.121746958C>G				Silent	SNP	ENST00000452319.1	hg19	CCDS33283.1																																																																																				0.617	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		G	121746958	C	G	121746958	2	3	666	1	0	0	0	0	0	0	0	1	6440	610	22	4		4	GLI2	2	121746958	Silent	SNP	C	TCGA-GL-A9DC-01A-11D-A36X-10	8657116	121746958	121452415	21	36352											
TTN	7273	hgsc.bcm.edu	37	2	179478924	179478924	+	Missense_Mutation	SNP	C	C	G	rs539513077		TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr2:179478924C>G	ENST00000591111.1	-	212	44501	c.44277G>C	c.(44275-44277)aaG>aaC	p.K14759N	TTN_ENST00000342992.6_Missense_Mutation_p.K13832N|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K7527N|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K16400N|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K7460N|TTN_ENST00000460472.2_Missense_Mutation_p.K7335N|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14759	Fibronectin type-III 6. {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)			TGGATGAGAGCTTGTGCCACA	0.443																																																0													153	142	145					2																	179478924		2003	4177	6180	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.44277G>C	chr2.hg19:g.179478924C>G	ENSP00000465570:p.Lys14759Asn		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	hg19		.	.	.	.	.	.	.	.	.	.	C	11.16	1.557484	0.27827	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	5.77	3.99	0.46301	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.61912	0.2385	L	0.42581	1.335	0.41869	D	0.990264	D;D;D;D	0.71674	0.997;0.997;0.997;0.998	D;D;D;D	0.69824	0.918;0.918;0.918;0.966	T	0.63817	-0.6551	9	0.87932	D	0	.	10.5973	0.45345	0.0:0.7432:0.0:0.2568	.	7335;7460;7527;14759	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	13832;7335;7527;7460;7335	ENSP00000343764:K13832N;ENSP00000434586:K7335N;ENSP00000340554:K7527N;ENSP00000352154:K7460N	ENSP00000340554:K7527N	K	-	3	2	TTN	179187169	0.975000	0.34042	1.000000	0.80357	0.974000	0.67602	0.227000	0.17795	0.914000	0.36822	-0.136000	0.14681	AAG		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		G	179478924	C	G	179478924	3	3	666	1	0	0	0	0	1	0	0	0	16740	796	28	4	58897	4	TTN	2	179478924	Missense_Mutation	SNP	C	TCGA-GL-A9DC-01A-11D-A36X-10	57731966	179478924	63720449	22	36353											
CTDSPL	10217	hgsc.bcm.edu	37	3	38017370	38017370	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr3:38017370delC	ENST00000273179.5	+	7	716	c.690delC	c.(688-690)ttcfs	p.F230fs	CTDSPL_ENST00000443503.2_Frame_Shift_Del_p.F219fs|CTDSPL_ENST00000310189.3_3'UTR	NM_001008392.1	NP_001008393.1	O15194	CTDSL_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase-like	230	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(2)|large_intestine(4)|skin(1)	8		Melanoma(1037;0.0122)		KIRC - Kidney renal clear cell carcinoma(284;0.0729)|Kidney(284;0.0902)		CATACATCTTCCATCCTGAGA	0.507																																																0													93	92	92					3																	38017370		2203	4300	6503	SO:0001589	frameshift_variant	10217			D88153	CCDS33734.1, CCDS33735.1	3p21.3	2010-06-21	2003-10-27	2003-10-29	ENSG00000144677	ENSG00000144677	3.1.3.16	"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	16890	protein-coding gene	gene with protein product	"small CTD phosphatase 3", "HYA22 protein", "RB protein serine phosphatase from chromosome 3"	608592	"chromosome 3 open reading frame 8"	C3orf8		9179494, 12543795	Standard	NM_005808		Approved	HYA22, SCP3, PSR1, RBSP3	uc003chg.3	O15194	OTTHUMG00000155942	ENST00000273179.5:c.690delC	chr3.hg19:g.38017370delC	ENSP00000273179:p.Phe230fs		Q3ZTU0|Q70KI4|Q7Z5Q2	Frame_Shift_Del	DEL	ENST00000273179.5	hg19	CCDS33734.1																																																																																				0.507	CTDSPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342392.1	NM_005808		-	38017370	C	-	38017370	7	5	666	1	0	1	0	1	0	0	0	0	4007	854	30	0	716	0	CTDSPL	3	38017370	Frame_Shift_Del	DEL	C	TCGA-GL-A9DC-01A-11D-A36X-10		38017370	160005060	23	36354											
C3orf71	646450	hgsc.bcm.edu	37	3	48956576	48956576	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr3:48956576C>T	ENST00000408959.2	-	1	242	c.7G>A	c.(7-9)Gga>Aga	p.G3R	ARIH2_ENST00000356401.4_Intron|ARIH2_ENST00000449376.1_Intron|ARIH2_ENST00000490095.1_Intron	NM_001123040.1	NP_001116512.1	Q8N7S6	ARI2O_HUMAN	ariadne homolog 2 opposite strand	3						integral component of membrane (GO:0016021)											GCACGTTGTCCGAGCATTACC	0.751																																																0													4	5	4					3																	48956576		961	2282	3243	SO:0001583	missense	646450			DA461567	CCDS43088.1	3p21.31	2012-10-08	2012-10-08	2012-10-08	ENSG00000221883	ENSG00000221883			34425	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 71"	C3orf71			Standard	NM_001123040		Approved		uc010hkk.1	Q8N7S6	OTTHUMG00000156672	ENST00000408959.2:c.7G>A	chr3.hg19:g.48956576C>T	ENSP00000386193:p.Gly3Arg			Missense_Mutation	SNP	ENST00000408959.2	hg19	CCDS43088.1	.	.	.	.	.	.	.	.	.	.	C	11.75	1.731212	0.30684	.	.	ENSG00000221883	ENST00000408959	.	.	.	3.3	-5.21	0.02815	.	.	.	.	.	T	0.14917	0.0360	N	0.08118	0	0.09310	N	0.999995	B	0.22604	0.072	B	0.19391	0.025	T	0.23084	-1.0198	8	0.87932	D	0	.	3.7894	0.08713	0.2267:0.3251:0.0:0.4482	.	3	Q8N7S6	CC071_HUMAN	R	3	.	ENSP00000386193:G3R	G	-	1	0	C3orf71	48931580	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.310000	0.08135	-1.121000	0.02949	0.561000	0.74099	GGA		0.751	ARIH2OS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345247.1	NM_001123040		T	48956576	C	T	48956576	3	4	666	1	0	0	0	0	1	0	0	0	2245	661	23	1	869	1	C3orf71	3	48956576	Missense_Mutation	SNP	C	TCGA-GL-A9DC-01A-11D-A36X-10	10939206	48956576	149065854	24	36355											
PRKCD	5580	hgsc.bcm.edu	37	3	53221398	53221398	+	Missense_Mutation	SNP	C	C	G			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr3:53221398C>G	ENST00000394729.2	+	14	1723	c.1395C>G	c.(1393-1395)caC>caG	p.H465Q	PRKCD_ENST00000330452.3_Missense_Mutation_p.H465Q	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	465	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular senescence (GO:0090398)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-10 production (GO:0032613)|interleukin-12 production (GO:0032615)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|mRNA metabolic process (GO:0016071)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of filopodium assembly (GO:0051490)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil activation (GO:0042119)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of glucosylceramide catabolic process (GO:2000753)|positive regulation of phospholipid scramblase activity (GO:1900163)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of sphingomyelin catabolic process (GO:2000755)|positive regulation of superoxide anion generation (GO:0032930)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of receptor activity (GO:0010469)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|termination of signal transduction (GO:0023021)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|insulin receptor substrate binding (GO:0043560)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	Ingenol Mebutate(DB05013)|Tamoxifen(DB00675)	AGTTTCTACACAGCAAGGGCA	0.557																																																0													120	117	118					3																	53221398		2203	4300	6503	SO:0001583	missense	5580				CCDS2870.1	3p21.31	2009-07-10			ENSG00000163932	ENSG00000163932	2.7.11.1		9399	protein-coding gene	gene with protein product		176977				8188219	Standard	NM_006254		Approved		uc003dgm.3	Q05655	OTTHUMG00000133659	ENST00000394729.2:c.1395C>G	chr3.hg19:g.53221398C>G	ENSP00000378217:p.His465Gln		B0KZ81|B2R834|Q15144|Q86XJ6	Missense_Mutation	SNP	ENST00000394729.2	hg19	CCDS2870.1	.	.	.	.	.	.	.	.	.	.	C	18.99	3.740330	0.69304	.	.	ENSG00000163932	ENST00000394729;ENST00000330452	D;D	0.84516	-1.86;-1.86	5.47	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);	0.000000	0.85682	D	0.000000	D	0.92489	0.7615	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.92943	0.6374	10	0.87932	D	0	.	10.5386	0.45020	0.0:0.8413:0.0:0.1587	.	465	Q05655	KPCD_HUMAN	Q	465	ENSP00000378217:H465Q;ENSP00000331602:H465Q	ENSP00000331602:H465Q	H	+	3	2	PRKCD	53196438	1.000000	0.71417	0.974000	0.42286	0.968000	0.65278	1.343000	0.33930	1.285000	0.44548	0.591000	0.81541	CAC		0.557	PRKCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257818.1			G	53221398	C	G	53221398	3	3	666	1	0	0	0	0	1	0	0	0	12514	477	17	4	1445	4	PRKCD	3	53221398	Missense_Mutation	SNP	C	TCGA-GL-A9DC-01A-11D-A36X-10	4264822	53221398	144801032	25	36356											
C3orf63	23272	hgsc.bcm.edu	37	3	56694972	56694972	+	Frame_Shift_Del	DEL	A	A	-			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr3:56694972delA	ENST00000493960.2	-	10	1244	c.1234delT	c.(1234-1236)tatfs	p.Y412fs	FAM208A_ENST00000355628.5_Frame_Shift_Del_p.Y412fs|FAM208A_ENST00000431842.2_Frame_Shift_Del_p.Y16fs	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	412							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						GTTTCCTTATAAAACAGTGCT	0.289																																																0													112	112	112					3																	56694972		2202	4298	6500	SO:0001589	frameshift_variant	23272			AF180425	CCDS2877.1, CCDS46853.1	3p14.3	2011-09-14	2011-09-14	2011-09-14	ENSG00000163946	ENSG00000163946			30314	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 63"	C3orf63		10470851, 11149944	Standard	NM_015224		Approved	se89-1, RAP140, KIAA1105	uc003die.4	Q9UK61	OTTHUMG00000158827	ENST00000493960.2:c.1234delT	chr3.hg19:g.56694972delA	ENSP00000417509:p.Tyr412fs		A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Frame_Shift_Del	DEL	ENST00000493960.2	hg19	CCDS46853.1																																																																																				0.289	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352352.2	NM_015224		-	56694972	A	-	56694972	7	5	666	1	0	1	0	1	0	0	0	0	2241	362	13	0	3898	0	C3orf63	3	56694972	Frame_Shift_Del	DEL	A	TCGA-GL-A9DC-01A-11D-A36X-10	3473574	56694972	141327458	26	36357											
CADPS	8618	hgsc.bcm.edu	37	3	62423814	62423814	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr3:62423814C>T	ENST00000383710.4	-	28	4091	c.3742G>A	c.(3742-3744)Gtc>Atc	p.V1248I	CADPS_ENST00000283269.9_Missense_Mutation_p.V1209I|CADPS_ENST00000357948.3_Missense_Mutation_p.V1169I	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1248	Mediates targeting and association with DCVs. {ECO:0000250}.				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)		TCCTCATTGACCTTATCACGC	0.448																																																0													95	91	92					3																	62423814		2203	4300	6503	SO:0001583	missense	8618			U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"Pleckstrin homology (PH) domain containing"	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.3742G>A	chr3.hg19:g.62423814C>T	ENSP00000373215:p.Val1248Ile		A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	hg19	CCDS46858.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.10|12.10	1.835491|1.835491	0.32421|0.32421	.|.	.|.	ENSG00000163618|ENSG00000163618	ENST00000466621|ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269	.|T;T;T	.|0.30448	.|1.53;1.53;1.53	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.30572|0.30572	0.0769|0.0769	L|L	0.40543|0.40543	1.245|1.245	0.80722|0.80722	D|D	1|1	.|B;B;B;B	.|0.23377	.|0.084;0.001;0.002;0.058	.|B;B;B;B	.|0.26614	.|0.071;0.007;0.004;0.065	T|T	0.04115|0.04115	-1.0976|-1.0976	5|10	.|0.24483	.|T	.|0.36	.|.	19.7806|19.7806	0.96414|0.96414	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1169;1209;1248;1253	.|Q9ULU8-2;Q9ULU8-3;Q9ULU8;Q9ULU8-4	.|.;.;CAPS1_HUMAN;.	D|I	148|1254;1248;1169;1209	.|ENSP00000373215:V1248I;ENSP00000350632:V1169I;ENSP00000283269:V1209I	.|ENSP00000283269:V1209I	G|V	-|-	2|1	0|0	CADPS|CADPS	62398854|62398854	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	5.978000|5.978000	0.70501|0.70501	2.668000|2.668000	0.90789|0.90789	0.644000|0.644000	0.83932|0.83932	GGT|GTC		0.448	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		T	62423814	C	T	62423814	3	4	666	1	0	0	0	0	1	0	0	0	2572	507	18	2	331	2	CADPS	3	62423814	Missense_Mutation	SNP	C	TCGA-GL-A9DC-01A-11D-A36X-10	5728842	62423814	135598616	27	36358											
FNDC3B	64778	hgsc.bcm.edu	37	3	172065011	172065011	+	Missense_Mutation	SNP	A	A	T			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr3:172065011A>T	ENST00000336824.4	+	21	2473	c.2374A>T	c.(2374-2376)Agt>Tgt	p.S792C	FNDC3B_ENST00000416957.1_Missense_Mutation_p.S792C|FNDC3B_ENST00000415807.2_Missense_Mutation_p.S792C	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	792	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		GAGTCCTGATAGTTCTGGTGC	0.403																																																0													125	125	125					3																	172065011		2203	4300	6503	SO:0001583	missense	64778			AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"Fibronectin type III domain containing"	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.2374A>T	chr3.hg19:g.172065011A>T	ENSP00000338523:p.Ser792Cys		B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Missense_Mutation	SNP	ENST00000336824.4	hg19	CCDS3217.1	.	.	.	.	.	.	.	.	.	.	A	9.703	1.154942	0.21371	.	.	ENSG00000075420	ENST00000415807;ENST00000336824;ENST00000416957	T;T;T	0.59224	0.28;0.28;0.28	6.03	3.61	0.41365	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.383662	0.37348	N	0.002126	T	0.34571	0.0902	N	0.13168	0.305	0.80722	D	1	B	0.06786	0.001	B	0.15484	0.013	T	0.06391	-1.0829	10	0.24483	T	0.36	-7.0432	5.9877	0.19444	0.5632:0.0:0.0696:0.3671	.	792	Q53EP0	FND3B_HUMAN	C	792	ENSP00000411242:S792C;ENSP00000338523:S792C;ENSP00000389094:S792C	ENSP00000338523:S792C	S	+	1	0	FNDC3B	173547705	1.000000	0.71417	0.140000	0.22221	0.895000	0.52256	1.823000	0.39062	0.499000	0.27970	0.533000	0.62120	AGT		0.403	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2	NM_022763		T	172065011	A	T	172065011	3	4	666	1	0	0	0	0	1	0	0	0	5972	420	15	5	2452	5	FNDC3B	3	172065011	Missense_Mutation	SNP	A	TCGA-GL-A9DC-01A-11D-A36X-10	109641197	172065011	25957419	28	36359											
RNF168	165918	hgsc.bcm.edu	37	3	196215554	196215554	+	Splice_Site	SNP	G	G	T	rs144091604		TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr3:196215554G>T	ENST00000318037.3	-	2	896	c.302C>A	c.(301-303)gCt>gAt	p.A101D		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	101					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)			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)		ATAGTCATCAGCTATTTCATA	0.308																																																0													64	67	66					3																	196215554		2203	4300	6503	SO:0001630	splice_region_variant	165918			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.302-1C>A	chr3.hg19:g.196215554G>T			Q8NA67|Q96NS4	Missense_Mutation	SNP	ENST00000318037.3	hg19	CCDS3317.1	.	.	.	.	.	.	.	.	.	.	G	6.047	0.377061	0.11466	.	.	ENSG00000163961	ENST00000318037	T	0.08102	3.13	5.75	-1.81	0.07882	.	0.268702	0.26130	N	0.026166	T	0.05364	0.0142	L	0.40543	1.245	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.39961	-0.9588	10	0.20046	T	0.44	.	5.8089	0.18456	0.3866:0.3711:0.2423:0.0	.	101	Q8IYW5	RN168_HUMAN	D	101	ENSP00000320898:A101D	ENSP00000320898:A101D	A	-	2	0	RNF168	197699951	1.000000	0.71417	0.021000	0.16686	0.172000	0.22775	0.859000	0.27858	-0.536000	0.06298	-0.225000	0.12378	GCT		0.308	RNF168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340778.1	NM_152617	Missense_Mutation	T	196215554	G	T	196215554	5	4	666	1	0	0	0	0	0	0	1	0	13465	985	34	4	1433	4	RNF168	3	196215554	Splice_Site	SNP	G	TCGA-GL-A9DC-01A-11D-A36X-10	24150543	196215554	1806876	29	36360											
WDR19	57728	hgsc.bcm.edu	37	4	39206803	39206804	+	Frame_Shift_Ins	INS	-	-	T			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr4:39206803_39206804insT	ENST00000399820.3	+	8	787_788	c.633_634insT	c.(634-636)tttfs	p.F212fs	WDR19_ENST00000506503.1_Frame_Shift_Ins_p.F212fs|WDR19_ENST00000288634.7_Frame_Shift_Ins_p.F52fs	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	212					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium assembly (GO:0042384)|digestive system development (GO:0055123)|ear morphogenesis (GO:0042471)|embryonic camera-type eye development (GO:0031076)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|intraciliary retrograde transport (GO:0035721)|myotome development (GO:0061055)|neurological system process (GO:0050877)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|photoreceptor connecting cilium (GO:0032391)				large_intestine(1)	1						AGAAAACTTTGTTTTTTTTAAA	0.361																																																0																																										SO:0001589	frameshift_variant	57728			AB046858, AY029257	CCDS47042.1	4p14	2014-02-21			ENSG00000157796	ENSG00000157796		"WD repeat domain containing", "Intraflagellar transport homologs"	18340	protein-coding gene	gene with protein product	"intraflagellar transport 144 homolog (Chlamydomonas)"	608151				12906858, 22019273	Standard	XM_005262658		Approved	Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13	uc003gtv.3	Q8NEZ3	OTTHUMG00000160466	ENST00000399820.3:c.641dupT	chr4.hg19:g.39206811_39206811dupT	ENSP00000382717:p.Phe212fs		B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	Frame_Shift_Ins	INS	ENST00000399820.3	hg19	CCDS47042.1																																																																																				0.361	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360689.1			T	39206804	-	T	39206803	7	5	666	1	0	1	1	0	0	0	0	0	17284	1368	48	0	663	0	WDR19	4	39206803	Frame_Shift_Ins	INS	-	TCGA-GL-A9DC-01A-11D-A36X-10		39206803	151947473	30	36361											
WDFY3	23001	hgsc.bcm.edu	37	4	85598373	85598374	+	Missense_Mutation	DNP	CA	CA	AG			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	C|A	C|A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr4:85598373_85598374CA>AG	ENST00000295888.4	-	67	10842_10843	c.10435_10436TG>CT	c.(10435-10437)TGt>CTt	p.C3479L	WDFY3_ENST00000322366.6_Missense_Mutation_p.C3462L	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3479	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)		GAGCTGACCACAGTTCCTGCAA	0.45																																																0																																										SO:0001583	missense	23001			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.10435_10436delinsAG	chr4.hg19:g.85598373_85598374delinsAG	ENSP00000295888:p.Cys3479Leu		Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	hg19	CCDS3609.1																																																																																				0.45	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		AG	85598374	CA	AG	85598373	3	1	666	1	0	0	0	0	1	0	0	0	17275	478	17	4	152	4	WDFY3	4	85598373	Missense_Mutation	DNP	CA	TCGA-GL-A9DC-01A-11D-A36X-10	46391570	85598373	105555903	31	36362											
ADH6	130	hgsc.bcm.edu	37	4	100128709	100128709	+	Missense_Mutation	SNP	G	G	T			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr4:100128709G>T	ENST00000237653.7	-	7	1242	c.858C>A	c.(856-858)agC>agA	p.S286R	ADH6_ENST00000394897.1_Intron|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000394899.2_Missense_Mutation_p.S286R|ADH6_ENST00000407820.2_Missense_Mutation_p.S77R|ADH6_ENST00000504257.1_5'Flank|RP11-696N14.1_ENST00000506160.1_RNA|RP11-696N14.1_ENST00000506454.1_RNA	NM_000672.3	NP_000663	P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	286					ethanol oxidation (GO:0006069)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|ethanol binding (GO:0035276)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)	AGACCCCATAGCTCTCATTGC	0.463																																																0													108	103	105					4																	100128709		2203	4300	6503	SO:0001583	missense	130			AK092768	CCDS3647.1, CCDS43255.1	4q23	2008-02-05			ENSG00000172955	ENSG00000172955	1.1.1.1	"Alcohol dehydrogenases"	255	protein-coding gene	gene with protein product		103735				1881901	Standard	NM_000672		Approved	ADH-5	uc003huo.2	P28332	OTTHUMG00000131024	ENST00000237653.7:c.858C>A	chr4.hg19:g.100128709G>T	ENSP00000237653:p.Ser286Arg		B3KS45|Q58F53	Missense_Mutation	SNP	ENST00000237653.7	hg19	CCDS3647.1	.	.	.	.	.	.	.	.	.	.	G	10.36	1.328806	0.24167	.	.	ENSG00000172955	ENST00000394899;ENST00000407820;ENST00000237653;ENST00000508558	T;T;T;T	0.06528	3.29;3.29;3.29;3.29	3.8	0.95	0.19572	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.328356	0.36703	N	0.002444	T	0.08802	0.0218	L	0.28740	0.885	0.09310	N	1	P;P;D	0.56746	0.908;0.94;0.977	P;P;P	0.58873	0.752;0.656;0.847	T	0.14117	-1.0484	10	0.87932	D	0	-9.2534	4.2097	0.10505	0.1775:0.0:0.5047:0.3178	.	163;286;286	B4DPD8;P28332;P28332-2	.;ADH6_HUMAN;.	R	286;77;286;222	ENSP00000378359:S286R;ENSP00000384997:S77R;ENSP00000237653:S286R;ENSP00000426187:S222R	ENSP00000237653:S286R	S	-	3	2	ADH6	100347732	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.031000	0.12287	0.201000	0.20466	-0.251000	0.11542	AGC		0.463	ADH6-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253665.1	NM_000672		T	100128709	G	T	100128709	3	4	666	1	0	0	0	0	1	0	0	0	312	962	34	4	285	4	ADH6	4	100128709	Missense_Mutation	SNP	G	TCGA-GL-A9DC-01A-11D-A36X-10	14530336	100128709	91025567	32	36363											
SLC12A7	10723	hgsc.bcm.edu	37	5	1087135	1087135	+	Silent	SNP	G	G	A			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr5:1087135G>A	ENST00000264930.5	-	6	601	c.558C>T	c.(556-558)taC>taT	p.Y186Y		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	186					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)	ATATCATGTAGTAGGACCCGC	0.637																																																0													23	24	24					5																	1087135		2199	4298	6497	SO:0001819	synonymous_variant	10723			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.558C>T	chr5.hg19:g.1087135G>A			A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Silent	SNP	ENST00000264930.5	hg19	CCDS34129.1																																																																																				0.637	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		A	1087135	G	A	1087135	2	1	666	1	0	0	0	0	0	0	0	1	14394	1024	36	2		2	SLC12A7	5	1087135	Silent	SNP	G	TCGA-GL-A9DC-01A-11D-A36X-10		1087135	179828125	33	36364											
C5orf49	134121	hgsc.bcm.edu	37	5	7831994	7831994	+	Missense_Mutation	SNP	T	T	A			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr5:7831994T>A	ENST00000399810.2	-	3	881	c.413A>T	c.(412-414)gAa>gTa	p.E138V	C5orf49_ENST00000509627.1_Missense_Mutation_p.E136V	NM_001089584.2	NP_001083053.1	A4QMS7	CE049_HUMAN	chromosome 5 open reading frame 49	138										large_intestine(3)|lung(5)|skin(1)	9						AAAGCCGGGTTCCTTGAGGCT	0.587																																																0													109	117	115					5																	7831994		2013	4171	6184	SO:0001583	missense	134121				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.413A>T	chr5.hg19:g.7831994T>A	ENSP00000382708:p.Glu138Val			Missense_Mutation	SNP	ENST00000399810.2	hg19	CCDS43300.1	.	.	.	.	.	.	.	.	.	.	T	3.625	-0.076646	0.07184	.	.	ENSG00000215217	ENST00000399810;ENST00000509627	T;T	0.26067	1.76;1.76	5.0	-9.72	0.00515	.	.	.	.	.	T	0.14787	0.0357	L	0.29908	0.895	0.09310	N	1	B	0.15473	0.013	B	0.13407	0.009	T	0.28364	-1.0046	9	0.36615	T	0.2	-10.2664	11.0233	0.47730	0.0:0.237:0.1945:0.5685	.	138	A4QMS7	CE049_HUMAN	V	138;136	ENSP00000382708:E138V;ENSP00000426019:E136V	ENSP00000382708:E138V	E	-	2	0	C5orf49	7884994	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-2.342000	0.01099	-1.768000	0.01298	-1.349000	0.01238	GAA		0.587	C5orf49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000366322.1	NM_001089584		A	7831994	T	A	7831994	3	1	666	1	0	0	0	0	1	0	0	0	2309	1783	62	5	34	5	C5orf49	5	7831994	Missense_Mutation	SNP	T	TCGA-GL-A9DC-01A-11D-A36X-10	6744859	7831994	173083266	34	36365											
RAI14	26064	hgsc.bcm.edu	37	5	34688329	34688329	+	Intron	SNP	G	G	A			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr5:34688329G>A	ENST00000265109.3	+	2	323				RAI14_ENST00000503673.1_Intron|RAI14_ENST00000428746.2_Intron|RAI14_ENST00000506376.1_Intron|RAI14_ENST00000515799.1_Silent_p.P7P|RAI14_ENST00000512629.1_Intron	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14							actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					CATATCTCCCGTGGCTTTCAG	0.448																																																0													98	85	89					5																	34688329		692	1591	2283	SO:0001627	intron_variant	26064			AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"Ankyrin repeat domain containing"	14873	protein-coding gene	gene with protein product	"novel retinal pigment epithelial"	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.36+1269G>A	chr5.hg19:g.34688329G>A			E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Silent	SNP	ENST00000265109.3	hg19	CCDS34142.1																																																																																				0.448	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577		A	34688329	G	A	34688329	1	1	666	0	1	0	0	0	0	0	0	0	13014	1132	40	1		1	RAI14	5	34688329	Intron	SNP	G	TCGA-GL-A9DC-01A-11D-A36X-10	26856335	34688329	146226931	35	36366											
WDR41	55255	hgsc.bcm.edu	37	5	76732151	76732151	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr5:76732151C>T	ENST00000296679.4	-	12	1537	c.1162G>A	c.(1162-1164)Gaa>Aaa	p.E388K	WDR41_ENST00000512033.1_5'Flank|WDR41_ENST00000414719.2_Missense_Mutation_p.E134K|WDR41_ENST00000507029.1_Missense_Mutation_p.E333K	NM_018268.2	NP_060738.2	Q9HAD4	WDR41_HUMAN	WD repeat domain 41	388						lysosomal membrane (GO:0005765)				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)	14		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		GTAGCATTTTCTTGCTGCTTT	0.393																																																0													174	149	158					5																	76732151		2203	4300	6503	SO:0001583	missense	55255			AF115511	CCDS4038.1	5q14	2013-01-09			ENSG00000164253	ENSG00000164253		"WD repeat domain containing"	25601	protein-coding gene	gene with protein product						12477932	Standard	NM_018268		Approved	FLJ10904	uc003kff.1	Q9HAD4	OTTHUMG00000102169	ENST00000296679.4:c.1162G>A	chr5.hg19:g.76732151C>T	ENSP00000296679:p.Glu388Lys		B4DT55|Q7Z792|Q8IWG3|Q8IXA9|Q8NDA7|Q9NV62	Missense_Mutation	SNP	ENST00000296679.4	hg19	CCDS4038.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.049649	0.55218	.	.	ENSG00000164253	ENST00000296679;ENST00000414719;ENST00000515253;ENST00000507029	T;T;T;T	0.51071	0.73;1.54;0.72;1.98	5.65	5.65	0.86999	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.224635	0.45606	D	0.000357	T	0.52224	0.1721	L	0.32530	0.975	0.58432	D	0.999996	D;D;D	0.58268	0.982;0.982;0.982	P;P;P	0.53760	0.664;0.664;0.734	T	0.41520	-0.9504	9	.	.	.	-26.7881	19.7233	0.96151	0.0:1.0:0.0:0.0	.	333;134;388	B4DT55;B4E2L4;Q9HAD4	.;.;WDR41_HUMAN	K	388;134;323;333	ENSP00000296679:E388K;ENSP00000392931:E134K;ENSP00000426499:E323K;ENSP00000424287:E333K	.	E	-	1	0	WDR41	76767907	1.000000	0.71417	0.994000	0.49952	0.210000	0.24377	6.532000	0.73825	2.653000	0.90120	0.563000	0.77884	GAA		0.393	WDR41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220014.2	NM_018268		T	76732151	C	T	76732151	3	4	666	1	0	0	0	0	1	0	0	0	17299	922	32	2	225	2	WDR41	5	76732151	Missense_Mutation	SNP	C	TCGA-GL-A9DC-01A-11D-A36X-10	42043822	76732151	104183109	36	36367											
MSH3	4437	hgsc.bcm.edu	37	5	79950745	79950745	+	Missense_Mutation	SNP	C	C	G	rs144629981|rs3045983|rs557874766	byFrequency	TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr5:79950745C>G	ENST00000265081.6	+	1	279	c.199C>G	c.(199-201)Cca>Gca	p.P67A	DHFR_ENST00000513048.1_5'Flank|DHFR_ENST00000505337.1_5'Flank|DHFR_ENST00000511032.1_5'Flank|DHFR_ENST00000439211.2_5'UTR|DHFR_ENST00000504396.1_5'Flank	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	67					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		CCCAGCGCCCCCAGCTCCCGC	0.731								Mismatch excision repair (MMR)					C|||	1091	0.217851	0.2678	0.1916	5008	,	,		6483	0.0476		0.2356	False		,,,				2504	0.3262				Melanoma(88;1010 1399 13793 26548 36275)											0													3	4	3					5																	79950745		1702	3410	5112	SO:0001583	missense	4437			U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"Divergent upstream protein", "Mismatch repair protein 1"	600887	"mutS (E. coli) homolog 3", "mutS homolog 3 (E. coli)"				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.199C>G	chr5.hg19:g.79950745C>G	ENSP00000265081:p.Pro67Ala		A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Missense_Mutation	SNP	ENST00000265081.6	hg19	CCDS34195.1	.	.	.	.	.	.	.	.	.	.	C	6.333	0.429466	0.11987	.	.	ENSG00000113318	ENST00000265081;ENST00000535995	D	0.85484	-1.99	.	.	.	.	.	.	.	.	T	0.70150	0.3191	N	0.19112	0.55	0.19945	N	0.999946	B	0.18741	0.03	B	0.17098	0.017	T	0.53507	-0.8429	6	.	.	.	0.6693	.	.	.	.	67	P20585	MSH3_HUMAN	A	67;58	ENSP00000265081:P67A	.	P	+	1	0	MSH3	79986501	0.560000	0.26570	0.857000	0.33713	0.119000	0.20118	0.055000	0.14229	0.064000	0.16427	0.064000	0.15345	CCA		0.731	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439		G	79950745	C	G	79950745	3	3	666	1	0	0	0	0	1	0	0	0	9873	623	22	4	201	4	MSH3	5	79950745	Missense_Mutation	SNP	C	TCGA-GL-A9DC-01A-11D-A36X-10	3218594	79950745	100964515	37	36368											
PCDHA12	56137	hgsc.bcm.edu	37	5	140256290	140256290	+	Silent	SNP	C	C	T	rs369536692		TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr5:140256290C>T	ENST00000398631.2	+	1	1233	c.1233C>T	c.(1231-1233)agC>agT	p.S411S	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	411	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)	p.S411S(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)			TGCTGGACAGCGCCCTGGACC	0.607													.|||	1	0.000199681	0.0008	0.0	5008	,	,		19945	0.0		0.0	False		,,,				2504	0.0				Pancreas(113;759 1672 13322 24104 50104)											1	Substitution - coding silent(1)	NS(1)						C	,,,,,,,,,,,,,,,	5,4401	9.9+/-24.2	0,5,2198	196	189	192		,,,1233,,,,,,,,,,,,1233	0.6	0	5		192	0,8600		0,0,4300	no	intron,intron,intron,coding-synonymous,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,coding-synonymous	PCDHA9,PCDHA12,PCDHA11,PCDHA10,PCDHA8,PCDHA7,PCDHA6,PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018901.2,NM_018902.3,NM_018903.2,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_031860.1,NM_031864.1	,,,,,,,,,,,,,,,	0,5,6498	TT,TC,CC		0.0,0.1135,0.0384	,,,,,,,,,,,,,,,	,,,411/942,,,,,,,,,,,,411/793	140256290	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	56137			AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"Cadherins / Protocadherins : Clustered"	8666	other	complex locus constituent	"KIAA0345-like 2"	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1233C>T	chr5.hg19:g.140256290C>T			O75278|Q2M1N8	Silent	SNP	ENST00000398631.2	hg19	CCDS47285.1																																																																																				0.607	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		T	140256290	C	T	140256290	2	4	666	1	0	0	0	0	0	0	0	1	11524	767	27	1		1	PCDHA12	5	140256290	Silent	SNP	C	TCGA-GL-A9DC-01A-11D-A36X-10	60305545	140256290	40658970	38	36369											
NDST1	3340	hgsc.bcm.edu	37	5	149927825	149927825	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr5:149927825C>T	ENST00000261797.6	+	12	2693	c.2191C>T	c.(2191-2193)Cat>Tat	p.H731Y	NDST1_ENST00000523767.1_Intron	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	731	Heparan sulfate N-sulfotransferase 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)			GTACACCTTCCATGAGGTGAT	0.617																																																0													88	61	70					5																	149927825		2203	4300	6503	SO:0001583	missense	3340			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.2191C>T	chr5.hg19:g.149927825C>T	ENSP00000261797:p.His731Tyr		Q96E57	Missense_Mutation	SNP	ENST00000261797.6	hg19	CCDS34277.1	.	.	.	.	.	.	.	.	.	.	C	9.808	1.182455	0.21870	.	.	ENSG00000070614	ENST00000261797	D	0.81579	-1.51	4.91	4.91	0.64330	Sulfotransferase domain (1);	0.136269	0.64402	D	0.000002	T	0.56381	0.1981	N	0.01789	-0.72	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.60125	-0.7324	10	0.02654	T	1	.	18.4857	0.90828	0.0:1.0:0.0:0.0	.	731	P52848	NDST1_HUMAN	Y	731	ENSP00000261797:H731Y	ENSP00000261797:H731Y	H	+	1	0	NDST1	149908018	1.000000	0.71417	0.998000	0.56505	0.929000	0.56500	2.653000	0.46691	2.434000	0.82447	0.655000	0.94253	CAT		0.617	NDST1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374314.2	NM_001543		T	149927825	C	T	149927825	3	4	666	1	0	0	0	0	1	0	0	0	10257	594	21	2	2233	2	NDST1	5	149927825	Missense_Mutation	SNP	C	TCGA-GL-A9DC-01A-11D-A36X-10	9671535	149927825	30987435	39	36370											
TNIP1	10318	hgsc.bcm.edu	37	5	150443282	150443283	+	In_Frame_Ins	INS	-	-	ATA			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr5:150443282_150443283insATA	ENST00000389378.2	-	3	750_751	c.162_163insTAT	c.(160-165)atggaa>atgTATgaa	p.54_55ME>MYE	TNIP1_ENST00000523338.1_In_Frame_Ins_p.54_55ME>MYE|TNIP1_ENST00000315050.7_In_Frame_Ins_p.54_55ME>MYE|TNIP1_ENST00000522226.1_In_Frame_Ins_p.54_55ME>MYE|TNIP1_ENST00000521591.1_In_Frame_Ins_p.54_55ME>MYE|TNIP1_ENST00000523200.1_In_Frame_Ins_p.54_55ME>MYE|TNIP1_ENST00000524280.1_In_Frame_Ins_p.54_55ME>MYE|TNIP1_ENST00000518977.1_In_Frame_Ins_p.54_55ME>MYE|TNIP1_ENST00000520931.1_In_Frame_Ins_p.1_2ME>MYE	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	54					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)			CTGGTCGCTTCCATCTGGGACT	0.589																																																0																																										SO:0001652	inframe_insertion	10318			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.162_163insTAT	chr5.hg19:g.150443282_150443283insATA	ENSP00000374029:p.Met54_Glu55insTyr		A4F1W8|A4F1W9|A4F1X2|A4F1X4|A4F1X5|A4F1X6|A4F1X7|A4F1X9|B7Z699|E7EPY1|E7ET96|O76008|Q05KP3|Q05KP4|Q6N077|Q96EL9|Q99833|Q9H1J3	In_Frame_Ins	INS	ENST00000389378.2	hg19	CCDS34280.1																																																																																				0.589	TNIP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374914.1	NM_006058		ATA	150443283	-	ATA	150443282	7	5	666	1	0	1	1	0	0	0	0	0	16319	864	30	0	1811	0	TNIP1	5	150443282	In_Frame_Ins	INS	-	TCGA-GL-A9DC-01A-11D-A36X-10	515457	150443282	30471978	40	36371	270	3									
TNIP1	10318	hgsc.bcm.edu	37	5	150443283	150443286	+	Frame_Shift_Del	DEL	CATC	CATC	-			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	CATC	CATC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr5:150443283_150443286delCATC	ENST00000389378.2	-	3	747_750	c.159_162delGATG	c.(157-162)cagatgfs	p.QM53fs	TNIP1_ENST00000523338.1_Frame_Shift_Del_p.QM53fs|TNIP1_ENST00000315050.7_Frame_Shift_Del_p.QM53fs|TNIP1_ENST00000522226.1_Frame_Shift_Del_p.QM53fs|TNIP1_ENST00000521591.1_Frame_Shift_Del_p.QM53fs|TNIP1_ENST00000523200.1_Frame_Shift_Del_p.QM53fs|TNIP1_ENST00000524280.1_Frame_Shift_Del_p.QM53fs|TNIP1_ENST00000518977.1_Frame_Shift_Del_p.QM53fs|TNIP1_ENST00000520931.1_Start_Codon_Del	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	53					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)			TGGTCGCTTCCATCTGGGACTCTT	0.588																																																0																																										SO:0001589	frameshift_variant	10318			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.159_162delGATG	chr5.hg19:g.150443283_150443286delCATC	ENSP00000374029:p.Gln53fs		A4F1W8|A4F1W9|A4F1X2|A4F1X4|A4F1X5|A4F1X6|A4F1X7|A4F1X9|B7Z699|E7EPY1|E7ET96|O76008|Q05KP3|Q05KP4|Q6N077|Q96EL9|Q99833|Q9H1J3	Frame_Shift_Del	DEL	ENST00000389378.2	hg19	CCDS34280.1																																																																																				0.588	TNIP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374914.1	NM_006058		-	150443286	CATC	-	150443283	7	5	666	1	0	1	0	1	0	0	0	0	16319	594	21	0	1812	0	TNIP1	5	150443283	Frame_Shift_Del	DEL	CATC	TCGA-GL-A9DC-01A-11D-A36X-10	1	150443283	30471977	41	36372	270	3									
TNIP1	10318	hgsc.bcm.edu	37	5	150443286	150443286	+	Silent	SNP	C	C	T			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr5:150443286C>T	ENST00000389378.2	-	3	747	c.159G>A	c.(157-159)caG>caA	p.Q53Q	TNIP1_ENST00000523338.1_Silent_p.Q53Q|TNIP1_ENST00000315050.7_Silent_p.Q53Q|TNIP1_ENST00000522226.1_Silent_p.Q53Q|TNIP1_ENST00000521591.1_Silent_p.Q53Q|TNIP1_ENST00000523200.1_Silent_p.Q53Q|TNIP1_ENST00000524280.1_Silent_p.Q53Q|TNIP1_ENST00000518977.1_Silent_p.Q53Q|TNIP1_ENST00000520931.1_5'UTR	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	53					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)			TCGCTTCCATCTGGGACTCTT	0.587																																																0													71	74	73					5																	150443286		2203	4300	6503	SO:0001819	synonymous_variant	10318			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.159G>A	chr5.hg19:g.150443286C>T			A4F1W8|A4F1W9|A4F1X2|A4F1X4|A4F1X5|A4F1X6|A4F1X7|A4F1X9|B7Z699|E7EPY1|E7ET96|O76008|Q05KP3|Q05KP4|Q6N077|Q96EL9|Q99833|Q9H1J3	Silent	SNP	ENST00000389378.2	hg19	CCDS34280.1																																																																																				0.587	TNIP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374914.1	NM_006058		T	150443286	C	T	150443286	2	4	666	1	0	0	0	0	0	0	0	1	16319	912	32	2		2	TNIP1	5	150443286	Silent	SNP	C	TCGA-GL-A9DC-01A-11D-A36X-10	3	150443286	30471974	42	36373	270	3									
PKHD1	5314	hgsc.bcm.edu	37	6	51613145	51613145	+	Missense_Mutation	SNP	T	T	A			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr6:51613145T>A	ENST00000371117.3	-	58	9544	c.9269A>T	c.(9268-9270)aAc>aTc	p.N3090I	PKHD1_ENST00000340994.4_Missense_Mutation_p.N3090I	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3090					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)					GCCATGGAGGTTGATGTCCTT	0.512																																																0													217	188	198					6																	51613145		2203	4300	6503	SO:0001583	missense	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.9269A>T	chr6.hg19:g.51613145T>A	ENSP00000360158:p.Asn3090Ile		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	hg19	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	T	0.870	-0.732173	0.03135	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	T;T	0.79653	-1.29;-1.19	5.72	-11.4	0.00090	Pectin lyase fold/virulence factor (1);	1.979650	0.02080	N	0.052295	T	0.33206	0.0855	N	0.17723	0.515	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.12156	0.004;0.001;0.007	T	0.35176	-0.9799	10	0.18710	T	0.47	.	2.4497	0.04515	0.2549:0.1962:0.4045:0.1445	.	3090;3090;3090	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	I	3090	ENSP00000360158:N3090I;ENSP00000341097:N3090I	ENSP00000341097:N3090I	N	-	2	0	PKHD1	51721104	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.765000	0.01799	-1.898000	0.01100	-0.313000	0.08912	AAC		0.512	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		A	51613145	T	A	51613145	3	1	666	1	0	0	0	0	1	0	0	0	11973	1725	60	5	3034	5	PKHD1	6	51613145	Missense_Mutation	SNP	T	TCGA-GL-A9DC-01A-11D-A36X-10		51613145	119501922	43	36374											
SYNCRIP	10492	hgsc.bcm.edu	37	6	86324737	86324740	+	Frame_Shift_Del	DEL	CTCG	CTCG	-	rs371636541		TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	CTCG	CTCG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr6:86324737_86324740delCTCG	ENST00000369622.3	-	11	2106_2109	c.1606_1609delCGAG	c.(1606-1611)cgaggtfs	p.RG536fs	RP11-321N4.5_ENST00000503906.1_Frame_Shift_Del_p.FE71fs|SYNCRIP_ENST00000355238.6_Frame_Shift_Del_p.RG536fs	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	536	8 X 3 AA repeats of R-G-G.|Interaction with APOBEC1.|Interaction with SMN.				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)		CCTCTCGCACCTCGAACGCCTCTT	0.623																																																0																																										SO:0001589	frameshift_variant	10492			AF037448	CCDS5005.1, CCDS55041.1, CCDS75491.1	6q14-q15	2013-05-23			ENSG00000135316	ENSG00000135316		"RNA binding motif (RRM) containing"	16918	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein Q"					9847309, 11352648	Standard	NM_006372		Approved	NSAP1, GRY-RBP, dJ3J17.2, HNRPQ1, hnRNP-Q, HNRNPQ	uc003pla.2	O60506	OTTHUMG00000015141	ENST00000369622.3:c.1606_1609delCGAG	chr6.hg19:g.86324737_86324740delCTCG	ENSP00000358635:p.Arg536fs		E1P501|E1P502|Q53H05|Q5TCG2|Q5TCG3|Q8IW78|Q8N599|Q96LC1|Q96LC2|Q9Y583	Frame_Shift_Del	DEL	ENST00000369622.3	hg19	CCDS5005.1																																																																																				0.623	SYNCRIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041396.1	NM_006372		-	86324740	CTCG	-	86324737	7	5	666	1	0	1	0	1	0	0	0	0	15449	681	24	0	312	0	SYNCRIP	6	86324737	Frame_Shift_Del	DEL	CTCG	TCGA-GL-A9DC-01A-11D-A36X-10	34711592	86324737	84790330	44	36375											
TCP10L2	401285	hgsc.bcm.edu	37	6	167591988	167591988	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr6:167591988delG	ENST00000366832.2	+	5	746	c.615delG	c.(613-615)ccgfs	p.P205fs		NM_001145121.1	NP_001138593.1	B9ZVM9	TCP2L_HUMAN	t-complex 10-like 2	205										endometrium(1)|kidney(2)|lung(3)	6						CTGGAAGGCCGACTCCCGGTG	0.522																																																0													229	205	212					6																	167591988		692	1590	2282	SO:0001589	frameshift_variant	401285				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.615delG	chr6.hg19:g.167591988delG	ENSP00000355797:p.Pro205fs			Frame_Shift_Del	DEL	ENST00000366832.2	hg19	CCDS47514.1																																																																																				0.522	TCP10L2-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043112.5	XR_040749		-	167591988	G	-	167591988	7	5	666	1	0	1	0	1	0	0	0	0	15717	1045	37	0	629	0	TCP10L2	6	167591988	Frame_Shift_Del	DEL	G	TCGA-GL-A9DC-01A-11D-A36X-10	81267251	167591988	3523079	45	36376											
EIF2AK1	27102	hgsc.bcm.edu	37	7	6068606	6068606	+	Missense_Mutation	SNP	G	G	C			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr7:6068606G>C	ENST00000199389.6	-	12	1536	c.1390C>G	c.(1390-1392)Ctg>Gtg	p.L464V	EIF2AK1_ENST00000536084.1_Missense_Mutation_p.L340V|ANKRD61_ENST00000409061.1_5'Flank	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	464	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of cell proliferation (GO:0008285)|negative regulation of hemoglobin biosynthetic process (GO:0046986)|negative regulation of translational initiation by iron (GO:0045993)|protein autophosphorylation (GO:0046777)|protoporphyrinogen IX metabolic process (GO:0046501)|regulation of eIF2 alpha phosphorylation by heme (GO:0010999)|response to external stimulus (GO:0009605)|response to stress (GO:0006950)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		GTGCAGGCCAGACCAAAGTCT	0.383																																																0													100	96	97					7																	6068606		2203	4300	6503	SO:0001583	missense	27102			BC006524	CCDS5345.1	7p22	2005-01-20			ENSG00000086232	ENSG00000086232			24921	protein-coding gene	gene with protein product	"heme regulated initiation factor 2 alpha kinase"	613635				7709427, 10718198	Standard	NM_014413		Approved	HRI, KIAA1369	uc003spp.3	Q9BQI3	OTTHUMG00000090689	ENST00000199389.6:c.1390C>G	chr7.hg19:g.6068606G>C	ENSP00000199389:p.Leu464Val		A8K2R2|Q549K6|Q8NBW3|Q9HC02|Q9NYE0|Q9P0V6|Q9P1J5|Q9P2H8|Q9UHG4	Missense_Mutation	SNP	ENST00000199389.6	hg19	CCDS5345.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.067812	0.55539	.	.	ENSG00000086232	ENST00000199389;ENST00000536084;ENST00000426957	T;T	0.33438	1.54;1.41	4.85	3.06	0.35304	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000005	T	0.51312	0.1667	M	0.75777	2.31	0.47511	D	0.999445	D;D;P	0.89917	1.0;0.998;0.937	D;D;P	0.80764	0.994;0.924;0.85	T	0.50440	-0.8828	10	0.87932	D	0	-13.4813	9.2919	0.37791	0.2527:0.0:0.7473:0.0	.	340;463;464	B4DIP4;Q9BQI3-2;Q9BQI3	.;.;E2AK1_HUMAN	V	464;340;91	ENSP00000199389:L464V;ENSP00000445784:L340V	ENSP00000199389:L464V	L	-	1	2	EIF2AK1	6035132	0.991000	0.36638	0.999000	0.59377	0.991000	0.79684	2.311000	0.43717	0.486000	0.27676	-0.266000	0.10368	CTG		0.383	EIF2AK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207373.2	NM_014413		C	6068606	G	C	6068606	3	2	666	1	0	0	0	0	1	0	0	0	4998	933	33	4	518	4	EIF2AK1	7	6068606	Missense_Mutation	SNP	G	TCGA-GL-A9DC-01A-11D-A36X-10		6068606	153070057	46	36377											
HOXA11	3207	hgsc.bcm.edu	37	7	27224287	27224287	+	Silent	SNP	G	G	A			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr7:27224287G>A	ENST00000006015.3	-	1	548	c.477C>T	c.(475-477)taC>taT	p.Y159Y	RP1-170O19.14_ENST00000523331.1_lincRNA|HOXA11-AS_ENST00000522674.1_RNA|HOXA11-AS_ENST00000522863.1_RNA|HOXA11-AS_ENST00000520395.1_RNA|HOXA11-AS_ENST00000520360.1_RNA	NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN	homeobox A11	159					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						TGTCCCCGGGGTAGTCGGAGG	0.697			T	NUP98	CML																																		Dom	yes		7	7p15-p14.2	3207	homeo box A11		L	0													13	15	14					7																	27224287		2177	4275	6452	SO:0001819	synonymous_variant	3207				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.477C>T	chr7.hg19:g.27224287G>A			A4D190	Silent	SNP	ENST00000006015.3	hg19	CCDS5411.1	.	.	.	.	.	.	.	.	.	.	G	13.10	2.135477	0.37728	.	.	ENSG00000005073	ENST00000517402	.	.	.	5.25	4.36	0.52297	.	.	.	.	.	T	0.56381	0.1981	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53899	-0.8373	4	.	.	.	.	6.6845	0.23138	0.2056:0.1362:0.6583:0.0	.	.	.	.	I	129	.	.	T	-	2	0	HOXA11	27190812	0.993000	0.37304	1.000000	0.80357	0.990000	0.78478	1.028000	0.30128	2.436000	0.82500	0.655000	0.94253	ACC		0.697	HOXA11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358754.1			A	27224287	G	A	27224287	2	1	666	1	0	0	0	0	0	0	0	1	7292	1256	44	2		2	HOXA11	7	27224287	Silent	SNP	G	TCGA-GL-A9DC-01A-11D-A36X-10	21155681	27224287	131914376	47	36378											
CALCR	799	hgsc.bcm.edu	37	7	93055856	93055856	+	Missense_Mutation	SNP	A	A	T			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr7:93055856A>T	ENST00000394441.1	-	13	1552	c.1237T>A	c.(1237-1239)Tgg>Agg	p.W413R	CALCR_ENST00000359558.2_Missense_Mutation_p.W447R|CALCR_ENST00000360249.4_Missense_Mutation_p.W429R|CALCR_ENST00000421592.1_Missense_Mutation_p.W429R|CALCR_ENST00000426151.1_Missense_Mutation_p.W413R	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	447					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)			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)	CGCTGGTTCCACTGAATTTTG	0.542																																																0													46	51	50					7																	93055856		2203	4300	6503	SO:0001583	missense	799			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.1237T>A	chr7.hg19:g.93055856A>T	ENSP00000377959:p.Trp413Arg		A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Missense_Mutation	SNP	ENST00000394441.1	hg19	CCDS5631.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.937626	0.73557	.	.	ENSG00000004948	ENST00000359558;ENST00000360249;ENST00000421592;ENST00000394441;ENST00000426151	T;T;T;T;T	0.62498	0.02;0.02;0.02;0.02;0.02	4.57	4.57	0.56435	.	.	.	.	.	T	0.68659	0.3025	L	0.45228	1.405	0.51482	D	0.999925	D;P	0.71674	0.998;0.613	D;B	0.72075	0.976;0.248	T	0.66106	-0.6006	9	0.33141	T	0.24	.	10.4932	0.44762	1.0:0.0:0.0:0.0	.	447;413	F5H605;A4D1G6	.;.	R	447;429;429;413;413	ENSP00000352561:W447R;ENSP00000353385:W429R;ENSP00000399552:W429R;ENSP00000377959:W413R;ENSP00000389295:W413R	ENSP00000352561:W447R	W	-	1	0	CALCR	92893792	1.000000	0.71417	0.495000	0.27527	0.014000	0.08584	6.514000	0.73746	2.055000	0.61198	0.477000	0.44152	TGG		0.542	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742		T	93055856	A	T	93055856	3	4	666	1	0	0	0	0	1	0	0	0	2581	159	6	5	191	5	CALCR	7	93055856	Missense_Mutation	SNP	A	TCGA-GL-A9DC-01A-11D-A36X-10	65831569	93055856	66082807	48	36379											
FAM200A	221786	hgsc.bcm.edu	37	7	99145242	99145243	+	Frame_Shift_Ins	INS	-	-	T			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr7:99145242_99145243insT	ENST00000449309.1	-	2	1167_1168	c.788_789insA	c.(787-789)aatfs	p.N263fs		NM_145111.3	NP_659802.1	Q8TCP9	F200A_HUMAN	family with sequence similarity 200, member A	263						integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			endometrium(1)|kidney(5)|large_intestine(2)|ovary(2)|skin(1)	11						ttttcactgcatttttcaatac	0.366																																																0																																										SO:0001589	frameshift_variant	221786				CCDS5668.1	7q22.1	2010-02-22	2010-02-22	2010-02-22	ENSG00000221909	ENSG00000221909			25401	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 38"	C7orf38		10607616	Standard	NM_145111		Approved	FLJ36794, DKFZp727G131	uc003ura.3	Q8TCP9	OTTHUMG00000156723	ENST00000449309.1:c.789dupA	chr7.hg19:g.99145247_99145247dupT	ENSP00000411372:p.Asn263fs		A4D293|A8K3V9|B2RD92|C9J6A8|D6W5T2|Q8N9P3	Frame_Shift_Ins	INS	ENST00000449309.1	hg19	CCDS5668.1																																																																																				0.366	FAM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345467.1	NM_145111		T	99145243	-	T	99145242	7	5	666	1	0	1	1	0	0	0	0	0	5538	214	8	0	936	0	FAM200A	7	99145242	Frame_Shift_Ins	INS	-	TCGA-GL-A9DC-01A-11D-A36X-10	6089386	99145242	59993421	49	36380											
AP1S1	1174	hgsc.bcm.edu	37	7	100802348	100802349	+	Missense_Mutation	DNP	GC	GC	CT			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr7:100802348_100802349GC>CT	ENST00000337619.5	+	4	418_419	c.300_301GC>CT	c.(298-303)gaGCtg>gaCTtg	p.E100D	MIR4653_ENST00000585107.1_RNA	NM_001283.3	NP_001274.1	P61966	AP1S1_HUMAN	adaptor-related protein complex 1, sigma 1 subunit	100					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)					AGGTGTGCGAGCTGGACATCAT	0.559																																																0																																										SO:0001583	missense	1174			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	Exception_encountered	chr7.hg19:g.100802348_100802349delinsCT	ENSP00000336666:p.Glu100Asp		B2R5D8|P82267|Q00382|Q53YA7|Q9BTN4|Q9UDW9	Missense_Mutation|Silent	SNP	ENST00000337619.5	hg19	CCDS47669.1																																																																																				0.559	AP1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347439.1	NM_001283		CT	100802349	GC	CT	100802348	3	2	666	1	0	0	0	0	1	0	0	0	736	962	34	4	314	4	AP1S1	7	100802348	Missense_Mutation	DNP	GC	TCGA-GL-A9DC-01A-11D-A36X-10	1657106	100802348	58336315	50	36381											
DOCK4	9732	hgsc.bcm.edu	37	7	111535707	111535707	+	Missense_Mutation	SNP	C	C	A			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr7:111535707C>A	ENST00000437633.1	-	16	1804	c.1548G>T	c.(1546-1548)agG>agT	p.R516S	DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000428084.1_Missense_Mutation_p.R516S	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	516	DHR-1.				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)				CTGGAAGAGTCCTACCATCTT	0.413																																																0													228	209	215					7																	111535707		2001	4180	6181	SO:0001583	missense	9732				CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.1548G>T	chr7.hg19:g.111535707C>A	ENSP00000404179:p.Arg516Ser		O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	hg19	CCDS47688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.45|19.45	3.830388|3.830388	0.71258|0.71258	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000445943|ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250	.|T;T	.|0.14266	.|2.52;2.52	5.88|5.88	4.99|4.99	0.66335|0.66335	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.15955|0.15955	0.0384|0.0384	L|L	0.38175|0.38175	1.15|1.15	0.80722|0.80722	D|D	1|1	.|P;P;P	.|0.37548	.|0.599;0.599;0.599	.|B;P;B	.|0.45167	.|0.356;0.472;0.356	T|T	0.01065|0.01065	-1.1463|-1.1463	5|10	.|0.44086	.|T	.|0.13	.|.	10.7911|10.7911	0.46434|0.46434	0.0:0.8056:0.0:0.1944|0.0:0.8056:0.0:0.1944	.|.	.|516;516;516	.|Q149N2;Q149N5;Q8N1I0	.|.;.;DOCK4_HUMAN	V|S	504|504;516;516;504;515	.|ENSP00000410746:R516S;ENSP00000404179:R516S	.|ENSP00000345432:R504S	G|R	-|-	2|3	0|2	DOCK4|DOCK4	111322943|111322943	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	1.605000|1.605000	0.36815|0.36815	2.781000|2.781000	0.95711|0.95711	0.591000|0.591000	0.81541|0.81541	GGA|AGG		0.413	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		A	111535707	C	A	111535707	3	1	666	1	0	0	0	0	1	0	0	0	4691	854	30	4	4500	4	DOCK4	7	111535707	Missense_Mutation	SNP	C	TCGA-GL-A9DC-01A-11D-A36X-10	10733359	111535707	47602956	51	36382											
PRKAG2	51422	hgsc.bcm.edu	37	7	151478467	151478467	+	Missense_Mutation	SNP	T	T	G			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr7:151478467T>G	ENST00000287878.4	-	3	741	c.237A>C	c.(235-237)agA>agC	p.R79S	PRKAG2_ENST00000461529.1_5'UTR|PRKAG2_ENST00000392801.2_Missense_Mutation_p.R35S	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	79					ATP biosynthetic process (GO:0006754)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|glycogen metabolic process (GO:0005977)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase activity (GO:0045860)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid metabolic process (GO:0019217)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose import (GO:0046324)|regulation of glycolytic process (GO:0006110)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|phosphorylase kinase regulator activity (GO:0008607)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)	Acetylsalicylic acid(DB00945)	GCTGGGGGCCTCTGGAGAAGA	0.642																																																0													13	16	15					7																	151478467		2202	4297	6499	SO:0001583	missense	51422			AF087875	CCDS5928.1, CCDS43683.1, CCDS47752.1	7q35-q36	2014-09-17			ENSG00000106617	ENSG00000106617			9386	protein-coding gene	gene with protein product	"AMPK gamma2"	602743				8557660, 8621499	Standard	NM_024429		Approved	AAKG, AAKG2, H91620p, WPWS, CMH6	uc003wkk.3	Q9UGJ0	OTTHUMG00000157324	ENST00000287878.4:c.237A>C	chr7.hg19:g.151478467T>G	ENSP00000287878:p.Arg79Ser		Q53Y07|Q6NUI0|Q75MP4|Q9NUZ9|Q9UDN8|Q9ULX8	Missense_Mutation	SNP	ENST00000287878.4	hg19	CCDS5928.1	.	.	.	.	.	.	.	.	.	.	T	14.23	2.472139	0.43942	.	.	ENSG00000106617	ENST00000287878;ENST00000392801	D;D	0.90069	-2.29;-2.61	4.6	-0.604	0.11626	.	0.174068	0.43579	D	0.000545	T	0.80513	0.4637	L	0.27053	0.805	0.80722	D	1	P;B	0.46142	0.873;0.099	B;B	0.42361	0.385;0.027	T	0.75668	-0.3238	10	0.59425	D	0.04	.	9.7457	0.40446	0.0:0.3953:0.0:0.6047	.	79;79	Q8NCK6;Q9UGJ0	.;AAKG2_HUMAN	S	79;35	ENSP00000287878:R79S;ENSP00000376549:R35S	ENSP00000287878:R79S	R	-	3	2	PRKAG2	151109400	0.952000	0.32445	0.998000	0.56505	0.938000	0.57974	0.152000	0.16302	-0.121000	0.11787	-0.464000	0.05259	AGA		0.642	PRKAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348440.2	NM_016203		G	151478467	T	G	151478467	3	3	666	1	0	0	0	0	1	0	0	0	12506	1548	54	5	1528	5	PRKAG2	7	151478467	Missense_Mutation	SNP	T	TCGA-GL-A9DC-01A-11D-A36X-10	39942760	151478467	7660196	52	36383											
RBM33	155435	hgsc.bcm.edu	37	7	155530893	155530893	+	Frame_Shift_Del	DEL	A	A	-			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr7:155530893delA	ENST00000401878.3	+	11	1731	c.1533delA	c.(1531-1533)ccafs	p.P511fs		NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	511	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)		AGCCAGGACCAGCATTTAATC	0.572																																																0													116	123	121					7																	155530893		2083	4230	6313	SO:0001589	frameshift_variant	155435			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.1533delA	chr7.hg19:g.155530893delA	ENSP00000384160:p.Pro511fs		A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Frame_Shift_Del	DEL	ENST00000401878.3	hg19	CCDS5941.2																																																																																				0.572	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317225.3	NM_001008408		-	155530893	A	-	155530893	7	5	666	1	0	1	0	1	0	0	0	0	13136	175	7	0	1575	0	RBM33	7	155530893	Frame_Shift_Del	DEL	A	TCGA-GL-A9DC-01A-11D-A36X-10	4052426	155530893	3607770	53	36384											
CSMD1	64478	hgsc.bcm.edu	37	8	3063031	3063031	+	Missense_Mutation	SNP	T	T	G	rs548826533		TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr8:3063031T>G	ENST00000520002.1	-	32	5537	c.4982A>C	c.(4981-4983)gAa>gCa	p.E1661A	CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602723.1_Missense_Mutation_p.E1661A|CSMD1_ENST00000539096.1_Missense_Mutation_p.E1660A|CSMD1_ENST00000400186.3_Missense_Mutation_p.E1661A|CSMD1_ENST00000542608.1_Missense_Mutation_p.E1660A|CSMD1_ENST00000537824.1_Missense_Mutation_p.E1660A|CSMD1_ENST00000602557.1_Missense_Mutation_p.E1661A			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1661	CUB 10. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTTACCGAATTCCTTTGGTAC	0.383																																																0													69	66	67					8																	3063031		1842	4093	5935	SO:0001583	missense	64478					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.4982A>C	chr8.hg19:g.3063031T>G	ENSP00000430733:p.Glu1661Ala		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	hg19		.	.	.	.	.	.	.	.	.	.	T	15.03	2.713104	0.48517	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.60171	0.21;0.21;0.21;0.21;0.21	5.28	5.28	0.74379	CUB (5);	0.071868	0.56097	D	0.000031	T	0.66218	0.2767	L	0.31845	0.965	0.58432	D	0.999992	D;P;P	0.69078	0.997;0.537;0.84	D;B;P	0.80764	0.994;0.309;0.557	T	0.66204	-0.5982	10	0.41790	T	0.15	.	15.5029	0.75713	0.0:0.0:0.0:1.0	.	1661;1661;1661	E5RIG2;Q96PZ7;Q96PZ7-4	.;CSMD1_HUMAN;.	A	1661;1661;1523;1660;1660;1660	ENSP00000383047:E1661A;ENSP00000430733:E1661A;ENSP00000441462:E1660A;ENSP00000446243:E1660A;ENSP00000441675:E1660A	ENSP00000320445:E1523A	E	-	2	0	CSMD1	3050438	1.000000	0.71417	0.990000	0.47175	0.474000	0.32979	7.809000	0.86057	2.115000	0.64714	0.533000	0.62120	GAA		0.383	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		G	3063031	T	G	3063031	3	3	666	1	0	0	0	0	1	0	0	0	3946	1783	62	5	5875	5	CSMD1	8	3063031	Missense_Mutation	SNP	T	TCGA-GL-A9DC-01A-11D-A36X-10		3063031	143300991	54	36385											
KIAA0146	23514	hgsc.bcm.edu	37	8	48647877	48647877	+	Missense_Mutation	SNP	A	A	T			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr8:48647877A>T	ENST00000297423.4	+	20	2997	c.2613A>T	c.(2611-2613)gaA>gaT	p.E871D	SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000541342.1_Missense_Mutation_p.E801D|SPIDR_ENST00000518060.1_Missense_Mutation_p.K95M|SPIDR_ENST00000518074.1_Missense_Mutation_p.S812C|SPIDR_ENST00000517693.1_Missense_Mutation_p.E346D	NM_001080394.2|NM_001282916.1	NP_001073863.1|NP_001269845.1	Q14159	SPIDR_HUMAN	scaffolding protein involved in DNA repair	871					cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of protein complex assembly (GO:0031334)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of establishment of protein localization to chromosome (GO:0070202)	nuclear chromosome (GO:0000228)											AGAGCTACGAAGTGAAGAGTG	0.517																																																0													184	195	191					8																	48647877		1971	4147	6118	SO:0001583	missense	23514			AK055680	CCDS43737.1, CCDS64890.1, CCDS64891.1	8q11.21	2013-07-02	2013-07-02	2013-07-02	ENSG00000164808	ENSG00000164808			28971	protein-coding gene	gene with protein product		615384	"KIAA0146"	KIAA0146		8590280, 23509288	Standard	XM_005251189		Approved		uc003xqd.3	Q14159	OTTHUMG00000164176	ENST00000297423.4:c.2613A>T	chr8.hg19:g.48647877A>T	ENSP00000297423:p.Glu871Asp		B4DFV2|B4E0Y6|Q96BI5	Missense_Mutation	SNP	ENST00000297423.4	hg19	CCDS43737.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	12.91|12.91|12.91	2.078043|2.078043|2.078043	0.36662|0.36662|0.36662	.|.|.	.|.|.	ENSG00000164808|ENSG00000164808|ENSG00000164808	ENST00000297423;ENST00000541342;ENST00000519141;ENST00000517693;ENST00000519362;ENST00000517619|ENST00000518060|ENST00000518074;ENST00000519401	.|.|.	.|.|.	.|.|.	5.73|5.73|5.73	1.97|1.97|1.97	0.26223|0.26223|0.26223	.|.|.	0.109030|.|.	0.64402|.|.	D|.|.	0.000010|.|.	T|T|T	0.58991|0.58991|0.58991	0.2161|0.2161|0.2161	L|L|L	0.40543|0.40543|0.40543	1.245|1.245|1.245	0.35176|0.35176|0.35176	D|D|D	0.771997|0.771997|0.771997	D;D;D;D|.|D	0.89917|.|0.89917	1.0;0.986;1.0;1.0|.|1.0	D;P;D;D|.|D	0.85130|.|0.73380	0.997;0.706;0.997;0.997|.|0.98	T|T|T	0.63310|0.63310|0.63310	-0.6666|-0.6666|-0.6666	9|6|8	0.38643|0.87932|0.40728	T|D|T	0.18|0|0.16	.|.|.	9.6477|9.6477|9.6477	0.39877|0.39877|0.39877	0.6588:0.0:0.3412:0.0|0.6588:0.0:0.3412:0.0|0.6588:0.0:0.3412:0.0	.|.|.	361;376;801;871|.|812	B4DZY2;B4DWT8;B4DFV2;Q14159|.|B4E0Y6	.;.;.;K0146_HUMAN|.|.	D|M|C	871;801;376;346;346;73|95|812;497	.|.|.	ENSP00000297423:E871D|ENSP00000429448:K95M|ENSP00000429487:S812C	E|K|S	+|+|+	3|2|1	2|0|0	KIAA0146|KIAA0146|KIAA0146	48810430|48810430|48810430	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.066000|0.066000|0.066000	0.16364|0.16364|0.16364	0.996000|0.996000|0.996000	0.29719|0.29719|0.29719	0.432000|0.432000|0.432000	0.26286|0.26286|0.26286	-0.558000|-0.558000|-0.558000	0.04189|0.04189|0.04189	GAA|AAG|AGT		0.517	SPIDR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377611.1	NM_001080394		T	48647877	A	T	48647877	3	4	666	1	0	0	0	0	1	0	0	0	8159	69	3	5	2691	5	KIAA0146	8	48647877	Missense_Mutation	SNP	A	TCGA-GL-A9DC-01A-11D-A36X-10	45584846	48647877	97716145	55	36386											
NSMAF	8439	hgsc.bcm.edu	37	8	59510054	59510055	+	Frame_Shift_Ins	INS	-	-	C			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr8:59510054_59510055insC	ENST00000038176.3	-	21	1895_1896	c.1683_1684insG	c.(1681-1686)gggcagfs	p.Q562fs	NSMAF_ENST00000427130.2_Frame_Shift_Ins_p.Q593fs	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	562	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.				ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				TTTGGTGTCTGCCCAAATTCCA	0.441																																																0																																										SO:0001589	frameshift_variant	8439			X96586	CCDS6173.1, CCDS47864.1	8q12-q13	2013-01-10			ENSG00000035681	ENSG00000035681		"WD repeat domain containing"	8017	protein-coding gene	gene with protein product		603043				8808629, 10640829	Standard	NM_003580		Approved	FAN	uc011lee.2	Q92636	OTTHUMG00000164352	ENST00000038176.3:c.1684dupG	chr8.hg19:g.59510057_59510057dupC	ENSP00000038176:p.Gln562fs		B4DFB0|E9PCH0|Q8IW26	Frame_Shift_Ins	INS	ENST00000038176.3	hg19	CCDS6173.1																																																																																				0.441	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378384.1	NM_003580		C	59510055	-	C	59510054	7	5	666	1	0	1	1	0	0	0	0	0	10676	1328	46	0	1113	0	NSMAF	8	59510054	Frame_Shift_Ins	INS	-	TCGA-GL-A9DC-01A-11D-A36X-10	10862177	59510054	86853968	56	36387											
KLHL38	340359	hgsc.bcm.edu	37	8	124659249	124659249	+	Silent	SNP	A	A	G			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr8:124659249A>G	ENST00000325995.7	-	2	1379	c.1356T>C	c.(1354-1356)taT>taC	p.Y452Y	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	452										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						TGGAAATGTGATAAACCTGAG	0.438																																																0													160	154	156					8																	124659249		1937	4136	6073	SO:0001819	synonymous_variant	340359				CCDS43766.1	8q24.13	2013-02-22	2013-02-22		ENSG00000175946	ENSG00000175946		"Kelch-like", "BTB/POZ domain containing"	34435	protein-coding gene	gene with protein product			"kelch-like 38 (Drosophila)"				Standard	NM_001081675		Approved	C8ORFK36	uc003yqs.1	Q2WGJ6	OTTHUMG00000164983	ENST00000325995.7:c.1356T>C	chr8.hg19:g.124659249A>G			A0PK12	Silent	SNP	ENST00000325995.7	hg19	CCDS43766.1																																																																																				0.438	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381288.1			G	124659249	A	G	124659249	2	3	666	1	0	0	0	0	0	0	0	1	8392	340	12	3		3	KLHL38	8	124659249	Silent	SNP	A	TCGA-GL-A9DC-01A-11D-A36X-10	65149195	124659249	21704773	57	36388											
TRPM6	140803	hgsc.bcm.edu	37	9	77407562	77407564	+	In_Frame_Del	DEL	ATT	ATT	-			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	ATT	ATT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr9:77407562_77407564delATT	ENST00000360774.1	-	19	2751_2753	c.2514_2516delAAT	c.(2512-2517)ccaatt>cct	p.I839del	TRPM6_ENST00000376864.4_In_Frame_Del_p.I839del|TRPM6_ENST00000451710.3_In_Frame_Del_p.I839del|TRPM6_ENST00000361255.3_In_Frame_Del_p.I834del|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000449912.2_In_Frame_Del_p.I834del|TRPM6_ENST00000376871.3_Intron	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	839					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						AAACTTGACAATTGGAGCACTGT	0.394																																																0																																										SO:0001651	inframe_deletion	140803			AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"Voltage-gated ion channels / Transient receptor potential cation channels"	17995	protein-coding gene	gene with protein product		607009	"hypomagnesemia, secondary hypocalcemia"	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.2514_2516delAAT	chr9.hg19:g.77407562_77407564delATT	ENSP00000354006:p.Ile839del		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	In_Frame_Del	DEL	ENST00000360774.1	hg19	CCDS6647.1																																																																																				0.394	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		-	77407564	ATT	-	77407562	7	5	666	1	0	1	0	1	0	0	0	0	16595	101	4	0	3636	0	TRPM6	9	77407562	In_Frame_Del	DEL	ATT	TCGA-GL-A9DC-01A-11D-A36X-10		77407562	63805869	58	36389	271	2									
TRPM6	140803	hgsc.bcm.edu	37	9	77407567	77407567	+	Frame_Shift_Del	DEL	A	A	-			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr9:77407567delA	ENST00000360774.1	-	19	2748	c.2511delT	c.(2509-2511)gctfs	p.A837fs	TRPM6_ENST00000376864.4_Frame_Shift_Del_p.A837fs|TRPM6_ENST00000451710.3_Frame_Shift_Del_p.A837fs|TRPM6_ENST00000361255.3_Frame_Shift_Del_p.A832fs|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000449912.2_Frame_Shift_Del_p.A832fs|TRPM6_ENST00000376871.3_Intron	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	837					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						TGACAATTGGAGCACTGTAGA	0.408																																																0													149	130	136					9																	77407567		2203	4300	6503	SO:0001589	frameshift_variant	140803			AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"Voltage-gated ion channels / Transient receptor potential cation channels"	17995	protein-coding gene	gene with protein product		607009	"hypomagnesemia, secondary hypocalcemia"	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.2511delT	chr9.hg19:g.77407567delA	ENSP00000354006:p.Ala837fs		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Frame_Shift_Del	DEL	ENST00000360774.1	hg19	CCDS6647.1																																																																																				0.408	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		-	77407567	A	-	77407567	7	5	666	1	0	1	0	1	0	0	0	0	16595	291	11	0	3641	0	TRPM6	9	77407567	Frame_Shift_Del	DEL	A	TCGA-GL-A9DC-01A-11D-A36X-10	5	77407567	63805864	59	36390	271	2									
BICC1	80114	hgsc.bcm.edu	37	10	60560753	60560753	+	Silent	SNP	T	T	C			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr10:60560753T>C	ENST00000373886.3	+	14	1966	c.1962T>C	c.(1960-1962)tgT>tgC	p.C654C	BICC1_ENST00000263103.1_Silent_p.C280C	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	654					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						AGGTTTCCTGTGCCAAAAGGC	0.408																																																0													130	118	122					10																	60560753		2203	4300	6503	SO:0001819	synonymous_variant	80114			AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"Sterile alpha motif (SAM) domain containing"	19351	protein-coding gene	gene with protein product		614295	"bicaudal C homolog 1 (Drosophila)"				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.1962T>C	chr10.hg19:g.60560753T>C				Silent	SNP	ENST00000373886.3	hg19	CCDS31206.1																																																																																				0.408	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048150.2	NM_025044		C	60560753	T	C	60560753	2	2	666	1	0	0	0	0	0	0	0	1	1427	1702	59	3		3	BICC1	10	60560753	Silent	SNP	T	TCGA-GL-A9DC-01A-11D-A36X-10		60560753	74973994	60	36391											
CC2D2B	387707	hgsc.bcm.edu	37	10	97784670	97784670	+	Intron	SNP	T	T	A			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr10:97784670T>A	ENST00000344386.3	+	8	944				ENTPD1-AS1_ENST00000458228.1_RNA|RP11-690P14.4_ENST00000475252.2_Intron|ENTPD1-AS1_ENST00000452728.1_RNA|CC2D2B_ENST00000410012.2_Splice_Site|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA|CC2D2B_ENST00000371198.2_Intron|ENTPD1-AS1_ENST00000449197.1_RNA	NM_001001732.3	NP_001001732.2	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B											large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		AAGGAATAGGTACTGTGTTTT	0.363																																																0													312	273	285					10																	97784670		692	1591	2283	SO:0001627	intron_variant	387707			BC075861	CCDS41555.1, CCDS53560.1	10q23.33	2008-11-06	2007-10-19	2007-10-19	ENSG00000188649	ENSG00000188649			31666	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 130"	C10orf130			Standard	NM_001001732		Approved	bA248J23.4	uc010qop.2	Q6DHV5	OTTHUMG00000018820	ENST00000344386.3:c.780+5089T>A	chr10.hg19:g.97784670T>A			A2A3E9|B4DYD4|E9PCC3|Q5VUS0	Splice_Site	SNP	ENST00000344386.3	hg19	CCDS41555.1	.	.	.	.	.	.	.	.	.	.	T	15.03	2.713349	0.48517	.	.	ENSG00000188649	ENST00000451649;ENST00000410012	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3455	0.66658	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CC2D2B	97774660	1.000000	0.71417	0.958000	0.39756	0.348000	0.29142	4.719000	0.61937	2.371000	0.80710	0.533000	0.62120	.		0.363	CC2D2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049573.3	NM_001001732		A	97784670	T	A	97784670	1	1	666	0	1	0	0	0	0	0	0	0	2731	1652	57	5		5	CC2D2B	10	97784670	Intron	SNP	T	TCGA-GL-A9DC-01A-11D-A36X-10	37223917	97784670	37750077	61	36392											
RRP12	23223	hgsc.bcm.edu	37	10	99141485	99141485	+	Missense_Mutation	SNP	G	G	A			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr10:99141485G>A	ENST00000370992.4	-	11	1418	c.1307C>T	c.(1306-1308)aCg>aTg	p.T436M	RRP12_ENST00000536831.1_Missense_Mutation_p.T154M|RRP12_ENST00000315563.6_Missense_Mutation_p.T336M|RRP12_ENST00000414986.1_Missense_Mutation_p.T375M	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	436						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.T436M(1)		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)		GAGGCTCTGCGTAGCAGCAGT	0.597																																																1	Substitution - Missense(1)	ovary(1)											69	58	62					10																	99141485		2203	4300	6503	SO:0001583	missense	23223				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.1307C>T	chr10.hg19:g.99141485G>A	ENSP00000360031:p.Thr436Met		B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Missense_Mutation	SNP	ENST00000370992.4	hg19	CCDS7457.1	.	.	.	.	.	.	.	.	.	.	G	19.78	3.891743	0.72524	.	.	ENSG00000052749	ENST00000370992;ENST00000315563;ENST00000414986;ENST00000536831	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	5.7	5.7	0.88788	Armadillo-like helical (1);Armadillo-type fold (1);	0.223488	0.48767	D	0.000171	T	0.73337	0.3574	L	0.56769	1.78	0.42336	D	0.992316	D;B;D;D	0.76494	0.999;0.139;0.998;0.998	P;B;P;P	0.59424	0.8;0.052;0.857;0.724	T	0.67699	-0.5603	10	0.22706	T	0.39	-17.4342	19.8221	0.96602	0.0:0.0:1.0:0.0	.	375;336;154;436	E9PCK7;Q5JTH9-2;F5H456;Q5JTH9	.;.;.;RRP12_HUMAN	M	436;336;375;154	ENSP00000360031:T436M;ENSP00000324315:T336M;ENSP00000414863:T375M;ENSP00000446184:T154M	ENSP00000324315:T336M	T	-	2	0	RRP12	99131475	1.000000	0.71417	0.998000	0.56505	0.242000	0.25591	9.563000	0.98148	2.684000	0.91462	0.563000	0.77884	ACG		0.597	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4	NM_015179		A	99141485	G	A	99141485	3	1	666	1	0	0	0	0	1	0	0	0	13692	1145	40	1	2682	1	RRP12	10	99141485	Missense_Mutation	SNP	G	TCGA-GL-A9DC-01A-11D-A36X-10	1356815	99141485	36393262	62	36393											
PSTK	118672	hgsc.bcm.edu	37	10	124740027	124740027	+	Missense_Mutation	SNP	G	G	A			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr10:124740027G>A	ENST00000368887.3	+	1	472	c.32G>A	c.(31-33)gGc>gAc	p.G11D	PSTK_ENST00000405485.1_Missense_Mutation_p.G11D	NM_153336.2	NP_699167.2	Q8IV42	PSTK_HUMAN	phosphoseryl-tRNA kinase	11					selenocysteine incorporation (GO:0001514)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|tRNA binding (GO:0000049)			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|skin(1)|stomach(2)	13		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725)		AGAGGAACCGGCAGCGACGGG	0.701											OREG0020597	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													18	21	20					10																	124740027		2194	4282	6476	SO:0001583	missense	118672			AK127173	CCDS7633.1	10q26.13	2007-04-17	2007-04-17	2007-04-17	ENSG00000179988	ENSG00000179988			28578	protein-coding gene	gene with protein product		611310	"chromosome 10 open reading frame 89"	C10orf89		15317934	Standard	NM_153336		Approved	MGC35392	uc001lgy.1	Q8IV42	OTTHUMG00000019191	ENST00000368887.3:c.32G>A	chr10.hg19:g.124740027G>A	ENSP00000357882:p.Gly11Asp	1536	Q6ZSS9	Missense_Mutation	SNP	ENST00000368887.3	hg19	CCDS7633.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.314|8.314	0.822752|0.822752	0.16678|0.16678	.|.	.|.	ENSG00000179988|ENSG00000179988	ENST00000406217|ENST00000368887;ENST00000405485	.|T;T	.|0.43688	.|0.94;0.98	3.99|3.99	-3.11|-3.11	0.05299|0.05299	.|.	.|1.236170	.|0.06046	.|N	.|0.655665	T|T	0.27169|0.27169	0.0666|0.0666	L|L	0.34521|0.34521	1.04|1.04	0.09310|0.09310	N|N	1|1	.|B	.|0.06786	.|0.001	.|B	.|0.08055	.|0.003	T|T	0.17715|0.17715	-1.0360|-1.0360	5|10	.|0.22109	.|T	.|0.4	-0.0124|-0.0124	5.4915|5.4915	0.16779|0.16779	0.5242:0.1624:0.3135:0.0|0.5242:0.1624:0.3135:0.0	.|.	.|11	.|Q8IV42	.|PSTK_HUMAN	T|D	12|11	.|ENSP00000357882:G11D;ENSP00000384764:G11D	.|ENSP00000357882:G11D	A|G	+|+	1|2	0|0	PSTK|PSTK	124730017|124730017	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.038000|0.038000	0.13279|0.13279	-0.052000|-0.052000	0.11865|0.11865	-1.010000|-1.010000	0.03396|0.03396	0.655000|0.655000	0.94253|0.94253	GCA|GGC		0.701	PSTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050811.1	NM_153336		A	124740027	G	A	124740027	3	1	666	1	0	0	0	0	1	0	0	0	12725	1203	42	2	34	2	PSTK	10	124740027	Missense_Mutation	SNP	G	TCGA-GL-A9DC-01A-11D-A36X-10	25598542	124740027	10794720	63	36394											
OR51S1	119692	hgsc.bcm.edu	37	11	4869827	4869827	+	Silent	SNP	G	G	A			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr11:4869827G>A	ENST00000322101.2	-	1	687	c.612C>T	c.(610-612)gcC>gcT	p.A204A	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	204						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)		ATAGGCTGTAGGCTGCACCCC	0.532																																																0													77	83	81					11																	4869827		2201	4298	6499	SO:0001819	synonymous_variant	119692			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.612C>T	chr11.hg19:g.4869827G>A			B9EGZ1|Q6IFI2	Silent	SNP	ENST00000322101.2	hg19	CCDS31362.1																																																																																				0.532	OR51S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142179.1	NM_001004758		A	4869827	G	A	4869827	2	1	666	1	0	0	0	0	0	0	0	1	11107	987	35	2		2	OR51S1	11	4869827	Silent	SNP	G	TCGA-GL-A9DC-01A-11D-A36X-10		4869827	130136689	64	36395											
USP47	55031	hgsc.bcm.edu	37	11	11924349	11924349	+	Silent	SNP	A	A	G			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr11:11924349A>G	ENST00000399455.2	+	7	861	c.741A>G	c.(739-741)aaA>aaG	p.K247K	USP47_ENST00000339865.5_Silent_p.K159K|USP47_ENST00000527733.1_Silent_p.K227K|USP47_ENST00000539466.1_5'UTR	NM_001282659.1	NP_001269588.1	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	247	USP.				base-excision repair (GO:0006284)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell growth (GO:0030307)|response to drug (GO:0042493)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	ubiquitin-specific protease activity (GO:0004843)|WD40-repeat domain binding (GO:0071987)			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		AAACCAGCAAAAAGAGAGCAA	0.348																																																0													125	118	120					11																	11924349		1818	4070	5888	SO:0001819	synonymous_variant	55031			AK027362	CCDS41619.1, CCDS60725.1	11p15.2	2008-02-05	2005-08-08		ENSG00000170242	ENSG00000170242		"Ubiquitin-specific peptidases"	20076	protein-coding gene	gene with protein product		614460	"Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)", "ubiquitin specific protease 47"			12838346	Standard	XM_005252997		Approved		uc001mjr.3	Q96K76	OTTHUMG00000165685	ENST00000399455.2:c.741A>G	chr11.hg19:g.11924349A>G			B3KXF5|E9PM46|Q658U0|Q86Y73|Q8TEP6|Q9BWI0|Q9NWN1	Silent	SNP	ENST00000399455.2	hg19																																																																																					0.348	USP47-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000385853.2	NM_017944		G	11924349	A	G	11924349	2	3	666	1	0	0	0	0	0	0	0	1	17083	11	1	3		3	USP47	11	11924349	Silent	SNP	A	TCGA-GL-A9DC-01A-11D-A36X-10	7054522	11924349	123082167	65	36396											
GLYATL1	92292	hgsc.bcm.edu	37	11	58722267	58722267	+	Missense_Mutation	SNP	T	T	C			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr11:58722267T>C	ENST00000317391.4	+	6	551	c.211T>C	c.(211-213)Tac>Cac	p.Y71H	GLYATL1_ENST00000300079.5_Missense_Mutation_p.Y102H|RP11-142C4.6_ENST00000533954.1_RNA	NM_001220494.1	NP_001207423.1	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	71						mitochondrion (GO:0005739)	glutamine N-acyltransferase activity (GO:0047946)|glycine N-acyltransferase activity (GO:0047961)			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	CATGGATTCATACACAAACGT	0.368																																																0													94	88	90					11																	58722267		2201	4295	6496	SO:0001583	missense	92292			AK091965	CCDS31556.1, CCDS55768.1	11q12.1	2014-08-12			ENSG00000166840	ENSG00000166840			30519	protein-coding gene	gene with protein product		614761				12477932	Standard	NM_080661		Approved	MGC15397, FLJ34646	uc001nnh.2	Q969I3	OTTHUMG00000167221	ENST00000317391.4:c.211T>C	chr11.hg19:g.58722267T>C	ENSP00000322223:p.Tyr71His		A6NDT0|Q7Z510|Q8NAW8	Missense_Mutation	SNP	ENST00000317391.4	hg19	CCDS55768.1	.	.	.	.	.	.	.	.	.	.	.	11.71	1.719568	0.30503	.	.	ENSG00000166840	ENST00000526351;ENST00000317391;ENST00000532726;ENST00000300079	T;T;T;T	0.23147	1.92;1.92;1.92;1.92	2.37	1.19	0.21007	Acyl-CoA N-acyltransferase (1);Glycine N-acyltransferase, N-terminal (1);	0.782658	0.10400	U	0.679322	T	0.39489	0.1080	M	0.67397	2.05	0.09310	N	0.999999	D;D	0.67145	0.995;0.996	P;P	0.61722	0.829;0.893	T	0.16778	-1.0391	9	.	.	.	.	4.1384	0.10181	0.0:0.1862:0.0:0.8138	.	102;71	Q969I3-2;Q969I3	.;GLYL1_HUMAN	H	94;71;71;102	ENSP00000434652:Y94H;ENSP00000322223:Y71H;ENSP00000436116:Y71H;ENSP00000300079:Y102H	.	Y	+	1	0	GLYATL1	58478843	0.166000	0.22962	0.001000	0.08648	0.037000	0.13140	1.220000	0.32491	0.172000	0.19760	0.164000	0.16699	TAC		0.368	GLYATL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393783.1	NM_080661		C	58722267	T	C	58722267	3	2	666	1	0	0	0	0	1	0	0	0	6482	1406	49	3	322	3	GLYATL1	11	58722267	Missense_Mutation	SNP	T	TCGA-GL-A9DC-01A-11D-A36X-10	46797918	58722267	76284249	66	36397											
WDR74	54663	hgsc.bcm.edu	37	11	62600570	62600570	+	Missense_Mutation	SNP	C	C	A			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr11:62600570C>A	ENST00000525239.1	-	12	1549	c.1012G>T	c.(1012-1014)Gtg>Ttg	p.V338L	WDR74_ENST00000529106.1_Missense_Mutation_p.V338L|WDR74_ENST00000311713.7_Missense_Mutation_p.V319L|RP11-727F15.9_ENST00000535867.1_RNA|STX5_ENST00000294179.3_5'Flank|WDR74_ENST00000525752.1_Missense_Mutation_p.V281L|WDR74_ENST00000540620.1_5'Flank|STX5_ENST00000377897.4_5'Flank|WDR74_ENST00000278856.4_Missense_Mutation_p.V338L|RP11-727F15.9_ENST00000535817.1_RNA|STX5_ENST00000394690.1_5'Flank|STX5_ENST00000541317.1_5'Flank			Q6RFH5	WDR74_HUMAN	WD repeat domain 74	338					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						TCTAGGGGCACCTTGTTGGGT	0.587																																																0													70	69	69					11																	62600570		1871	4104	5975	SO:0001583	missense	54663				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.1012G>T	chr11.hg19:g.62600570C>A	ENSP00000432119:p.Val338Leu		A8K8G5|Q9BRC9|Q9H6X8|Q9NVY2	Missense_Mutation	SNP	ENST00000525239.1	hg19	CCDS44630.1	.	.	.	.	.	.	.	.	.	.	C	2.862	-0.235939	0.05944	.	.	ENSG00000133316	ENST00000311713;ENST00000529106;ENST00000525239;ENST00000278856;ENST00000535048;ENST00000525752	T	0.43294	0.95	4.97	0.918	0.19386	.	0.666571	0.13764	N	0.364341	T	0.25382	0.0617	L	0.36672	1.1	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.18209	-1.0344	10	0.27785	T	0.31	-0.0311	1.6117	0.02695	0.1606:0.4701:0.1821:0.1872	.	281;338;319	E9PS41;Q6RFH5;Q6RFH5-2	.;WDR74_HUMAN;.	L	319;338;338;338;134;281	ENSP00000432113:V281L	ENSP00000278856:V338L	V	-	1	0	WDR74	62357146	0.000000	0.05858	0.000000	0.03702	0.337000	0.28794	0.091000	0.15046	0.011000	0.14865	0.655000	0.94253	GTG		0.587	WDR74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395678.1	NM_018093		A	62600570	C	A	62600570	3	1	666	1	0	0	0	0	1	0	0	0	17329	507	18	4	149	4	WDR74	11	62600570	Missense_Mutation	SNP	C	TCGA-GL-A9DC-01A-11D-A36X-10	3878303	62600570	72405946	67	36398											
ARAP1	116985	hgsc.bcm.edu	37	11	72408128	72408132	+	Frame_Shift_Del	DEL	CTGCT	CTGCT	-	rs377204604		TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	CTGCT	CTGCT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr11:72408128_72408132delCTGCT	ENST00000393609.3	-	22	3264_3268	c.3062_3066delAGCAG	c.(3061-3066)gagcagfs	p.EQ1021fs	ARAP1_ENST00000359373.5_Frame_Shift_Del_p.EQ1021fs|ARAP1_ENST00000455638.2_Frame_Shift_Del_p.EQ1021fs|ARAP1_ENST00000429686.1_Frame_Shift_Del_p.EQ715fs|ARAP1_ENST00000426523.1_Frame_Shift_Del_p.EQ776fs|ARAP1_ENST00000334211.8_Frame_Shift_Del_p.EQ776fs|ARAP1_ENST00000393605.3_Frame_Shift_Del_p.EQ781fs|ARAP1_ENST00000495878.1_5'UTR	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	1021	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				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						CATCCACGTGCTGCTCGCCCTCCTT	0.649																																					Ovarian(102;1198 1520 13195 17913 37529)											0																																										SO:0001589	frameshift_variant	116985			AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16925	protein-coding gene	gene with protein product		606646	"centaurin, delta 2"	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.3062_3066delAGCAG	chr11.hg19:g.72408128_72408132delCTGCT	ENSP00000377233:p.Glu1021fs		A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Frame_Shift_Del	DEL	ENST00000393609.3	hg19	CCDS41687.1																																																																																				0.649	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1	NM_001040118		-	72408132	CTGCT	-	72408128	7	5	666	1	0	1	0	1	0	0	0	0	838	796	28	0	1342	0	ARAP1	11	72408128	Frame_Shift_Del	DEL	CTGCT	TCGA-GL-A9DC-01A-11D-A36X-10	9807558	72408128	62598388	68	36399											
DDX10	1662	hgsc.bcm.edu	37	11	108593893	108593893	+	Missense_Mutation	SNP	T	T	A			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr11:108593893T>A	ENST00000322536.3	+	13	1798	c.1669T>A	c.(1669-1671)Tcc>Acc	p.S557T	DDX10_ENST00000526794.1_Missense_Mutation_p.S557T	NM_004398.2	NP_004389.2	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	557					metabolic process (GO:0008152)		ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		TGAGAAAATGTCCATCCTTCA	0.433			T	NUP98	AML*																																		Dom	yes		11	11q22-q23	1662	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10		L	0													68	67	67					11																	108593893		2201	4298	6499	SO:0001583	missense	1662			U28042	CCDS8342.1	11q22-q23	2005-10-11	2003-06-13		ENSG00000178105	ENSG00000178105		"DEAD-boxes"	2735	protein-coding gene	gene with protein product		601235	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase)"			8660968	Standard	NM_004398		Approved	HRH-J8	uc001pkm.3	Q13206	OTTHUMG00000166540	ENST00000322536.3:c.1669T>A	chr11.hg19:g.108593893T>A	ENSP00000314348:p.Ser557Thr		B2RCQ3|Q5BJD8	Missense_Mutation	SNP	ENST00000322536.3	hg19	CCDS8342.1	.	.	.	.	.	.	.	.	.	.	T	10.97	1.501157	0.26861	.	.	ENSG00000178105	ENST00000322536;ENST00000456020;ENST00000526794	T;T	0.41065	1.01;1.02	4.9	3.68	0.42216	.	0.222920	0.38959	N	0.001508	T	0.17492	0.0420	N	0.08118	0	0.26714	N	0.970905	B;B	0.19583	0.013;0.037	B;B	0.16289	0.01;0.015	T	0.13548	-1.0505	10	0.13853	T	0.58	-9.0985	5.0685	0.14594	0.1615:0.0897:0.0:0.7488	.	557;557	Q13206;E9PIF2	DDX10_HUMAN;.	T	557;463;557	ENSP00000314348:S557T;ENSP00000432032:S557T	ENSP00000314348:S557T	S	+	1	0	DDX10	108099103	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	2.025000	0.41059	1.954000	0.56735	0.397000	0.26171	TCC		0.433	DDX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390343.1	NM_004398		A	108593893	T	A	108593893	3	1	666	1	0	0	0	0	1	0	0	0	4344	1667	58	5	1719	5	DDX10	11	108593893	Missense_Mutation	SNP	T	TCGA-GL-A9DC-01A-11D-A36X-10	36185765	108593893	26412623	69	36400											
DDX25	29118	hgsc.bcm.edu	37	11	125791201	125791201	+	Silent	SNP	G	G	C			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr11:125791201G>C	ENST00000263576.6	+	11	1472	c.1317G>C	c.(1315-1317)ggG>ggC	p.G439G	DDX25_ENST00000525943.1_3'UTR|RP11-680F20.9_ENST00000533033.2_RNA	NM_013264.4	NP_037396.3	Q9UHL0	DDX25_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 25	439	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)	10	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)		GGCGCTTTGGGAAAAAAGGCC	0.493																																																0													46	45	46					11																	125791201		1922	4128	6050	SO:0001819	synonymous_variant	29118			AF155140	CCDS44766.1	11q24	2012-02-23	2012-02-23		ENSG00000109832	ENSG00000109832		"DEAD-boxes"	18698	protein-coding gene	gene with protein product	"gonadotropin-regulated testicular RNA helicase"	607663	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 25", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 25"			10608860, 15096601	Standard	NM_013264		Approved	GRTH	uc001qcz.5	Q9UHL0	OTTHUMG00000165859	ENST00000263576.6:c.1317G>C	chr11.hg19:g.125791201G>C			B2R6Z0|Q5XVN2|Q86W81|Q8IYP1	Silent	SNP	ENST00000263576.6	hg19	CCDS44766.1																																																																																				0.493	DDX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386736.3	NM_013264		C	125791201	G	C	125791201	2	2	666	1	0	0	0	0	0	0	0	1	4354	1161	41	4		4	DDX25	11	125791201	Silent	SNP	G	TCGA-GL-A9DC-01A-11D-A36X-10	17197308	125791201	9215315	70	36401											
SRPR	6734	hgsc.bcm.edu	37	11	126134972	126134972	+	Silent	SNP	G	G	T			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr11:126134972G>T	ENST00000332118.6	-	11	1561	c.1407C>A	c.(1405-1407)acC>acA	p.T469T	SRPR_ENST00000530680.1_5'Flank|SRPR_ENST00000532259.1_Silent_p.T441T	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	469					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)		TCAAACGCCGGGTGTGTGTAC	0.547																																																0													67	61	63					11																	126134972		2201	4299	6500	SO:0001819	synonymous_variant	6734			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.1407C>A	chr11.hg19:g.126134972G>T			A6NIB3|B2R5Z8|B4E0H3|E9PJS4|Q9BVJ4	Silent	SNP	ENST00000332118.6	hg19	CCDS31717.1																																																																																				0.547	SRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386425.2	NM_003139		T	126134972	G	T	126134972	2	4	666	1	0	0	0	0	0	0	0	1	15167	1219	43	4		4	SRPR	11	126134972	Silent	SNP	G	TCGA-GL-A9DC-01A-11D-A36X-10	343771	126134972	8871544	71	36402											
ACSM4	341392	hgsc.bcm.edu	37	12	7459269	7459269	+	Silent	SNP	A	A	T			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr12:7459269A>T	ENST00000399422.4	+	2	390	c.342A>T	c.(340-342)ggA>ggT	p.G114G		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	114					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						TGCAGAGAGGAGACCGTTTGG	0.522																																																0													77	85	83					12																	7459269		2093	4251	6344	SO:0001819	synonymous_variant	341392				CCDS44825.1	12p13.31	2008-06-12			ENSG00000215009	ENSG00000215009		"Acyl-CoA synthetase family"	32016	protein-coding gene	gene with protein product	"similar to olfactory specific medium-chain acyl CoA synthetase"	614360				17762044	Standard	NM_001080454		Approved		uc001qsx.1	P0C7M7	OTTHUMG00000154975	ENST00000399422.4:c.342A>T	chr12.hg19:g.7459269A>T			A8MTI6	Silent	SNP	ENST00000399422.4	hg19	CCDS44825.1																																																																																				0.522	ACSM4-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337866.2	NM_001080454		T	7459269	A	T	7459269	2	4	666	1	0	0	0	0	0	0	0	1	186	291	11	5		5	ACSM4	12	7459269	Silent	SNP	A	TCGA-GL-A9DC-01A-11D-A36X-10		7459269	126392626	72	36403											
CAPZA3	93661	hgsc.bcm.edu	37	12	18891585	18891585	+	Missense_Mutation	SNP	A	A	C			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr12:18891585A>C	ENST00000317658.3	+	1	541	c.383A>C	c.(382-384)tAt>tCt	p.Y128S	PLCZ1_ENST00000266505.7_5'Flank|PLCZ1_ENST00000539875.1_5'Flank|PLCZ1_ENST00000435379.1_5'Flank|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000447925.2_5'Flank	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	128					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)				TTAAAACTGTATGTGAATGAC	0.388																																																0													90	82	84					12																	18891585		2203	4300	6503	SO:0001583	missense	93661			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.383A>C	chr12.hg19:g.18891585A>C	ENSP00000326238:p.Tyr128Ser		Q969J0	Missense_Mutation	SNP	ENST00000317658.3	hg19	CCDS8681.1	.	.	.	.	.	.	.	.	.	.	A	12.78	2.040528	0.35989	.	.	ENSG00000177938	ENST00000317658	.	.	.	4.43	4.43	0.53597	.	0.000000	0.64402	D	0.000001	T	0.77412	0.4126	M	0.78049	2.395	0.52099	D	0.999946	D	0.76494	0.999	D	0.87578	0.998	T	0.80264	-0.1455	9	0.87932	D	0	-1.4926	11.1782	0.48612	1.0:0.0:0.0:0.0	.	128	Q96KX2	CAZA3_HUMAN	S	128	.	ENSP00000326238:Y128S	Y	+	2	0	CAPZA3	18782852	0.995000	0.38212	0.801000	0.32222	0.378000	0.30076	5.493000	0.66899	1.876000	0.54355	0.379000	0.24179	TAT		0.388	CAPZA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401902.1	NM_033328		C	18891585	A	C	18891585	3	2	666	1	0	0	0	0	1	0	0	0	2644	449	16	5	385	5	CAPZA3	12	18891585	Missense_Mutation	SNP	A	TCGA-GL-A9DC-01A-11D-A36X-10	11432316	18891585	114960310	73	36404											
GOLT1B	51026	hgsc.bcm.edu	37	12	21661461	21661461	+	Missense_Mutation	SNP	A	A	T			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr12:21661461A>T	ENST00000229314.5	+	3	371	c.262A>T	c.(262-264)Atc>Ttc	p.I88F	GOLT1B_ENST00000540141.1_Missense_Mutation_p.I88F|GOLT1B_ENST00000535593.1_Intron|GOLT1B_ENST00000542038.1_Missense_Mutation_p.I24F	NM_016072.4	NP_057156.1	Q9Y3E0	GOT1B_HUMAN	golgi transport 1B	88	Phe-rich.				positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein transport (GO:0015031)|signal transduction (GO:0007165)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	signal transducer activity (GO:0004871)			large_intestine(2)|lung(3)	5						GATAGGCATGATCTTCGAAAT	0.333																																																0													112	111	111					12																	21661461		2203	4298	6501	SO:0001583	missense	51026			AB097020	CCDS8689.1	12p13.1	2010-06-24	2010-06-24		ENSG00000111711	ENSG00000111711			20175	protein-coding gene	gene with protein product		615078	"golgi transport 1 homolog B (S. cerevisiae)"			12414650, 10810093	Standard	NM_016072		Approved	CGI-141, YMR292W, GOT1	uc001rez.2	Q9Y3E0	OTTHUMG00000169133	ENST00000229314.5:c.262A>T	chr12.hg19:g.21661461A>T	ENSP00000229314:p.Ile88Phe		B2R4R4|Q54A40|Q6I9W6|Q9P1R9	Missense_Mutation	SNP	ENST00000229314.5	hg19	CCDS8689.1	.	.	.	.	.	.	.	.	.	.	A	15.33	2.800809	0.50315	.	.	ENSG00000111711	ENST00000542038;ENST00000540141;ENST00000229314	T;T;T	0.47869	0.83;0.83;0.83	5.9	5.9	0.94986	.	0.055804	0.64402	D	0.000001	T	0.44746	0.1308	M	0.64170	1.965	0.58432	D	0.999993	B	0.10296	0.003	B	0.20767	0.031	T	0.42716	-0.9435	10	0.46703	T	0.11	-9.0019	8.6254	0.33886	0.8585:0.0:0.1415:0.0	.	88	Q9Y3E0	GOT1B_HUMAN	F	24;88;88	ENSP00000446231:I24F;ENSP00000437351:I88F;ENSP00000229314:I88F	ENSP00000229314:I88F	I	+	1	0	GOLT1B	21552728	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.462000	0.53042	2.251000	0.74343	0.528000	0.53228	ATC		0.333	GOLT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402384.2	NM_016072		T	21661461	A	T	21661461	3	4	666	1	0	0	0	0	1	0	0	0	6573	333	12	5	272	5	GOLT1B	12	21661461	Missense_Mutation	SNP	A	TCGA-GL-A9DC-01A-11D-A36X-10	2769876	21661461	112190434	74	36405											
KRAS	3845	hgsc.bcm.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	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)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"L, E, M, O"	15813	Substitution - Missense(15812)|Deletion - Frameshift(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)											91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	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	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>A	chr12.hg19:g.25398284C>T	ENSP00000256078:p.Gly12Asp		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	hg19	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	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		T	25398284	C	T	25398284	3	4	666	1	0	0	0	0	1	0	0	0	8440	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-GL-A9DC-01A-11D-A36X-10	3736823	25398284	108453611	75	36406											
C12orf40	283461	hgsc.bcm.edu	37	12	40034792	40034792	+	Frame_Shift_Del	DEL	A	A	-			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr12:40034792delA	ENST00000324616.5	+	2	213	c.59delA	c.(58-60)caafs	p.Q20fs	C12orf40_ENST00000405531.3_Frame_Shift_Del_p.Q20fs|C12orf40_ENST00000398716.1_5'UTR	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	20										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						AGAAGAAAGCAAAAGGTAAAG	0.353																																																0													76	75	76					12																	40034792		1815	4075	5890	SO:0001589	frameshift_variant	283461			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.59delA	chr12.hg19:g.40034792delA	ENSP00000317671:p.Gln20fs		B7WNU1|Q8IXY6|Q8N818|V9HW02	Frame_Shift_Del	DEL	ENST00000324616.5	hg19	CCDS41770.1																																																																																				0.353	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257664.2	NM_173599		-	40034792	A	-	40034792	7	5	666	1	0	1	0	1	0	0	0	0	1688	130	5	0	65	0	C12orf40	12	40034792	Frame_Shift_Del	DEL	A	TCGA-GL-A9DC-01A-11D-A36X-10	14636508	40034792	93817103	76	36407											
MYF6	4618	hgsc.bcm.edu	37	12	81101509	81101509	+	Missense_Mutation	SNP	A	A	C			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr12:81101509A>C	ENST00000228641.3	+	1	233	c.11A>C	c.(10-12)gAc>gCc	p.D4A		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	4					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						ATGATGATGGACCTTTTTGAA	0.468																																																0													115	122	120					12																	81101509		2203	4300	6503	SO:0001583	missense	4618				CCDS9019.1	12q21	2013-05-21				ENSG00000111046		"Basic helix-loop-helix proteins"	7566	protein-coding gene	gene with protein product	"muscle-specific regulatory factor 4"	159991				8978788	Standard	NM_002469		Approved	MRF4, bHLHc4	uc001szf.2	P23409		ENST00000228641.3:c.11A>C	chr12.hg19:g.81101509A>C	ENSP00000228641:p.Asp4Ala		B2R898|Q53X80|Q6FHI9	Missense_Mutation	SNP	ENST00000228641.3	hg19	CCDS9019.1	.	.	.	.	.	.	.	.	.	.	A	19.76	3.887817	0.72410	.	.	ENSG00000111046	ENST00000228641	T	0.79352	-1.26	5.46	5.46	0.80206	Myogenic basic muscle-specific protein (2);	0.000000	0.85682	D	0.000000	D	0.84074	0.5392	L	0.51422	1.61	0.80722	D	1	D	0.71674	0.998	D	0.64877	0.93	D	0.85751	0.1343	10	0.72032	D	0.01	.	15.5368	0.76011	1.0:0.0:0.0:0.0	.	4	P23409	MYF6_HUMAN	A	4	ENSP00000228641:D4A	ENSP00000228641:D4A	D	+	2	0	MYF6	79625640	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.730000	0.91510	2.090000	0.63153	0.533000	0.62120	GAC		0.468	MYF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407756.1	NM_002469		C	81101509	A	C	81101509	3	2	666	1	0	0	0	0	1	0	0	0	10030	275	10	5	13	5	MYF6	12	81101509	Missense_Mutation	SNP	A	TCGA-GL-A9DC-01A-11D-A36X-10	41066717	81101509	52750386	77	36408											
PLXNC1	10154	hgsc.bcm.edu	37	12	94543226	94543226	+	Missense_Mutation	SNP	G	G	A			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr12:94543226G>A	ENST00000258526.4	+	1	728	c.479G>A	c.(478-480)gGc>gAc	p.G160D		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	160	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				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						CACCCGCAGGGCTCGACGGCC	0.741																																																0													2	2	2					12																	94543226		1355	2986	4341	SO:0001583	missense	10154			AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"CD molecules", "Plexins"	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.479G>A	chr12.hg19:g.94543226G>A	ENSP00000258526:p.Gly160Asp		Q59H25	Missense_Mutation	SNP	ENST00000258526.4	hg19	CCDS9049.1	.	.	.	.	.	.	.	.	.	.	G	17.50	3.404871	0.62288	.	.	ENSG00000136040	ENST00000258526	T	0.04551	3.6	4.87	4.87	0.63330	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.352781	0.24001	N	0.042462	T	0.16300	0.0392	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00503	-1.1701	10	0.39692	T	0.17	.	12.2042	0.54342	0.0:0.0:0.8298:0.1702	.	160	O60486	PLXC1_HUMAN	D	160	ENSP00000258526:G160D	ENSP00000258526:G160D	G	+	2	0	PLXNC1	93067357	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.442000	0.52900	2.233000	0.73108	0.561000	0.74099	GGC		0.741	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2			A	94543226	G	A	94543226	3	1	666	1	0	0	0	0	1	0	0	0	12128	1203	42	2	481	2	PLXNC1	12	94543226	Missense_Mutation	SNP	G	TCGA-GL-A9DC-01A-11D-A36X-10	13441717	94543226	39308669	78	36409											
ATP2A2	488	hgsc.bcm.edu	37	12	110760813	110760813	+	Silent	SNP	T	T	C			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr12:110760813T>C	ENST00000539276.2	+	6	589	c.480T>C	c.(478-480)ccT>ccC	p.P160P	ATP2A2_ENST00000395494.2_Intron|ATP2A2_ENST00000550248.2_3'UTR|ATP2A2_ENST00000308664.6_Silent_p.P160P			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	160			P -> L (in DD).		blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						ACAAAGTTCCTGCTGATATAA	0.323																																																0													82	84	83					12																	110760813		2203	4300	6503	SO:0001819	synonymous_variant	488				CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"ATPases / P-type"	812	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 2", "calcium pump 2"	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.480T>C	chr12.hg19:g.110760813T>C			A6NDN7|B4DF05|P16614|Q86VJ2	Silent	SNP	ENST00000539276.2	hg19	CCDS9144.1																																																																																				0.323	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	NM_001681		C	110760813	T	C	110760813	2	2	666	1	0	0	0	0	0	0	0	1	1137	1567	55	3		3	ATP2A2	12	110760813	Silent	SNP	T	TCGA-GL-A9DC-01A-11D-A36X-10	16217587	110760813	23091082	79	36410											
TAOK3	51347	hgsc.bcm.edu	37	12	118681252	118681252	+	Missense_Mutation	SNP	T	T	C			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr12:118681252T>C	ENST00000392533.3	-	5	752	c.262A>G	c.(262-264)Aaa>Gaa	p.K88E	TAOK3_ENST00000419821.2_Missense_Mutation_p.K88E	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	88	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)					TAACAGCCTTTGTACTCAATA	0.289																																																0													72	70	71					12																	118681252		2202	4294	6496	SO:0001583	missense	51347			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.262A>G	chr12.hg19:g.118681252T>C	ENSP00000376317:p.Lys88Glu		Q658N1|Q8IUM4|Q9HC79|Q9NZM9|Q9UHG7	Missense_Mutation	SNP	ENST00000392533.3	hg19	CCDS9188.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.38|14.38	2.517362|2.517362	0.44763|0.44763	.|.	.|.	ENSG00000135090|ENSG00000135090	ENST00000419821;ENST00000392533;ENST00000535570;ENST00000541186|ENST00000538601	T;T;T;T|T	0.24908|0.74315	1.83;1.83;1.83;1.83|-0.83	5.05|5.05	5.05|5.05	0.67936|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|.	0.85682|.	D|.	0.000000|.	T|T	0.68504|0.68504	0.3008|0.3008	N|N	0.13235|0.13235	0.315|0.315	0.80722|0.80722	D|D	1|1	B|.	0.28636|.	0.218|.	P|.	0.44990|.	0.466|.	T|T	0.74472|0.74472	-0.3654|-0.3654	10|7	0.87932|0.87932	D|D	0|0	.|.	14.9553|14.9553	0.71107|0.71107	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	88|.	Q9H2K8|.	TAOK3_HUMAN|.	E|R	88|1	ENSP00000416374:K88E;ENSP00000376317:K88E;ENSP00000443465:K88E;ENSP00000438820:K88E|ENSP00000437389:Q1R	ENSP00000376317:K88E|ENSP00000437389:Q1R	K|Q	-|-	1|2	0|0	TAOK3|TAOK3	117165635|117165635	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.719000|7.719000	0.84751|0.84751	2.119000|2.119000	0.64992|0.64992	0.533000|0.533000	0.62120|0.62120	AAA|CAA		0.289	TAOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401456.2	NM_016281		C	118681252	T	C	118681252	3	2	666	1	0	0	0	0	1	0	0	0	15554	1821	63	3	2502	3	TAOK3	12	118681252	Missense_Mutation	SNP	T	TCGA-GL-A9DC-01A-11D-A36X-10	7920439	118681252	15170643	80	36411											
EP400	57634	hgsc.bcm.edu	37	12	132547081	132547081	+	Silent	SNP	G	G	A			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr12:132547081G>A	ENST00000333577.4	+	48	8386	c.8277G>A	c.(8275-8277)caG>caA	p.Q2759Q	EP400_ENST00000330386.6_Silent_p.Q2642Q|EP400_ENST00000332482.4_Silent_p.Q2686Q|EP400_ENST00000389561.2_Silent_p.Q2723Q|EP400_ENST00000389562.2_Silent_p.Q2722Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2759	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)		agcagcagcagcagcagcaac	0.562																																																0													33	35	34					12																	132547081		2203	4300	6503	SO:0001819	synonymous_variant	57634			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.8277G>A	chr12.hg19:g.132547081G>A			O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	hg19																																																																																					0.562	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		A	132547081	G	A	132547081	2	1	666	1	0	0	0	0	0	0	0	1	5151	962	34	2		2	EP400	12	132547081	Silent	SNP	G	TCGA-GL-A9DC-01A-11D-A36X-10	13865829	132547081	1304814	81	36412	272	2									
EP400	57634	hgsc.bcm.edu	37	12	132547084	132547084	+	Silent	SNP	G	G	A			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr12:132547084G>A	ENST00000333577.4	+	48	8389	c.8280G>A	c.(8278-8280)caG>caA	p.Q2760Q	EP400_ENST00000330386.6_Silent_p.Q2643Q|EP400_ENST00000332482.4_Silent_p.Q2687Q|EP400_ENST00000389561.2_Silent_p.Q2724Q|EP400_ENST00000389562.2_Silent_p.Q2723Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2760	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)		agcagcagcagcagcaacaac	0.557																																																0													30	33	32					12																	132547084		2203	4298	6501	SO:0001819	synonymous_variant	57634			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.8280G>A	chr12.hg19:g.132547084G>A			O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	hg19																																																																																					0.557	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		A	132547084	G	A	132547084	2	1	666	1	0	0	0	0	0	0	0	1	5151	962	34	2		2	EP400	12	132547084	Silent	SNP	G	TCGA-GL-A9DC-01A-11D-A36X-10	3	132547084	1304811	82	36413	272	2									
FOXO1	2308	hgsc.bcm.edu	37	13	41134273	41134273	+	Missense_Mutation	SNP	A	A	G			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr13:41134273A>G	ENST00000379561.5	-	2	1739	c.1355T>C	c.(1354-1356)aTg>aCg	p.M452T	FOXO1_ENST00000473775.1_5'Flank	NM_002015.3	NP_002006.2	Q12778	FOXO1_HUMAN	forkhead box O1	452	Required for interaction with RUNX2. {ECO:0000250}.|Sufficient for interaction with NLK. {ECO:0000250}.				apoptotic process (GO:0006915)|autophagy (GO:0006914)|blood vessel development (GO:0001568)|cellular glucose homeostasis (GO:0001678)|cellular response to cold (GO:0070417)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hyperoxia (GO:0071455)|cellular response to insulin stimulus (GO:0032869)|cellular response to nitric oxide (GO:0071732)|cellular response to oxidative stress (GO:0034599)|cellular response to starvation (GO:0009267)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|fat cell differentiation (GO:0045444)|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 apoptotic process (GO:0043066)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|regulation of cell proliferation (GO:0042127)|regulation of energy homeostasis (GO:2000505)|regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter (GO:0035947)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|protein phosphatase 2A binding (GO:0051721)|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)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)		PAX7/FOXO1(197)|PAX3/FOXO1(749)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	20		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		ATACTGACTCATACCTCCATA	0.463																																																0													102	87	92					13																	41134273		2203	4300	6503	SO:0001583	missense	2308				CCDS9371.1	13q14.1	2011-08-01	2007-05-02	2007-05-02	ENSG00000150907	ENSG00000150907		"Forkhead boxes"	3819	protein-coding gene	gene with protein product		136533	"forkhead homolog in rhabdomyosarcoma"	FKHR, FOXO1A		8275086, 15057823	Standard	NM_002015		Approved	FKH1	uc001uxl.4	Q12778	OTTHUMG00000016775	ENST00000379561.5:c.1355T>C	chr13.hg19:g.41134273A>G	ENSP00000368880:p.Met452Thr		O43523|Q5VYC7|Q6NSK6	Missense_Mutation	SNP	ENST00000379561.5	hg19	CCDS9371.1	.	.	.	.	.	.	.	.	.	.	A	10.99	1.508445	0.27036	.	.	ENSG00000150907	ENST00000379561	D	0.93906	-3.31	5.78	5.78	0.91487	.	0.369149	0.30742	N	0.008980	D	0.91412	0.7290	L	0.61218	1.895	0.39378	D	0.966211	B	0.14805	0.011	B	0.12837	0.008	D	0.88343	0.2976	10	0.20519	T	0.43	-0.5556	15.295	0.73898	1.0:0.0:0.0:0.0	.	452	Q12778	FOXO1_HUMAN	T	452	ENSP00000368880:M452T	ENSP00000368880:M452T	M	-	2	0	FOXO1	40032273	0.998000	0.40836	0.321000	0.25320	0.301000	0.27625	7.027000	0.76463	2.220000	0.72140	0.533000	0.62120	ATG		0.463	FOXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044634.3	NM_002015		G	41134273	A	G	41134273	3	3	666	1	0	0	0	0	1	0	0	0	6025	217	8	3	616	3	FOXO1	13	41134273	Missense_Mutation	SNP	A	TCGA-GL-A9DC-01A-11D-A36X-10		41134273	74035605	83	36414											
ALG11	440138	hgsc.bcm.edu	37	13	52598354	52598354	+	Missense_Mutation	SNP	C	C	G			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr13:52598354C>G	ENST00000521508.1	+	3	493	c.488C>G	c.(487-489)gCt>gGt	p.A163G	ALG11_ENST00000523764.1_Intron|ALG11_ENST00000519151.1_3'UTR|UTP14C_ENST00000521776.2_5'Flank	NM_001004127.2	NP_001004127.2	Q2TAA5	ALG11_HUMAN	ALG11, alpha-1,2-mannosyltransferase	163					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 (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GDP-Man:Man3GlcNAc2-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0004377)			endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13		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;2.44e-08)		GGCTGGGAAGCTCTAATGCAG	0.413																																																0													182	169	173					13																	52598354		2203	4300	6503	SO:0001583	missense	440138			AK025456	CCDS31977.1	13q14.3	2013-02-22	2013-02-22		ENSG00000253710	ENSG00000253710	2.4.1.131	"Glycosyltransferase group 1 domain containing"	32456	protein-coding gene	gene with protein product	"GDP-Man:Man(3)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"	613666	"asparagine-linked glycosylation 11 homolog (S. cerevisiae, alpha-1,2-mannosyltransferase)", "asparagine-linked glycosylation 11, alpha-1,2-mannosyltransferase homolog (yeast)"			20080937	Standard	NM_001004127		Approved	KIAA0266		Q2TAA5	OTTHUMG00000016959	ENST00000521508.1:c.488C>G	chr13.hg19:g.52598354C>G	ENSP00000430236:p.Ala163Gly		A5PLP3|B4DKW9|Q5TAN9|Q6DKI6|Q96FI7	Missense_Mutation	SNP	ENST00000521508.1	hg19	CCDS31977.1	.	.	.	.	.	.	.	.	.	.	C	18.89	3.719490	0.68844	.	.	ENSG00000253710	ENST00000521508	T	0.69685	-0.42	5.94	5.94	0.96194	.	0.000000	0.85682	U	0.000000	T	0.74612	0.3739	M	0.82630	2.6	0.80722	D	1	P	0.49090	0.919	B	0.43331	0.416	T	0.78947	-0.2003	10	0.62326	D	0.03	.	20.3736	0.98901	0.0:1.0:0.0:0.0	.	163	Q2TAA5	ALG11_HUMAN	G	163	ENSP00000430236:A163G	ENSP00000430236:A163G	A	+	2	0	ALG11	51496355	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	7.438000	0.80431	2.820000	0.97059	0.650000	0.86243	GCT		0.413	ALG11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045050.1	NM_001004127		G	52598354	C	G	52598354	3	3	666	1	0	0	0	0	1	0	0	0	513	797	28	4	498	4	ALG11	13	52598354	Missense_Mutation	SNP	C	TCGA-GL-A9DC-01A-11D-A36X-10	11464081	52598354	62571524	84	36415											
FERMT2	10979	hgsc.bcm.edu	37	14	53386039	53386039	+	Missense_Mutation	SNP	A	A	C			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr14:53386039A>C	ENST00000395631.2	-	3	409	c.193T>G	c.(193-195)Tgg>Ggg	p.W65G	FERMT2_ENST00000343279.4_Missense_Mutation_p.W65G|FERMT2_ENST00000399304.3_Missense_Mutation_p.W65G|FERMT2_ENST00000341590.3_Missense_Mutation_p.W65G|FERMT2_ENST00000553373.1_Missense_Mutation_p.W65G			Q96AC1	FERM2_HUMAN	fermitin family member 2	65	Interaction with membranes containing phosphatidylinositol phosphate.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|focal adhesion assembly (GO:0048041)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|protein localization to membrane (GO:0072657)|regulation of cell shape (GO:0008360)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					TTCTTTTCCCACCAGAGAGCA	0.363																																																0													119	111	114					14																	53386039		2203	4300	6503	SO:0001583	missense	10979			Z24725	CCDS9713.1, CCDS45107.1, CCDS45108.1	14q22.1	2013-01-10	2010-06-24	2007-12-14	ENSG00000073712	ENSG00000073712		"Fermitins", "Pleckstrin homology (PH) domain containing"	15767	protein-coding gene	gene with protein product	"kindlin-2"	607746	"pleckstrin homology domain containing, family C (with FERM domain) member 1", "fermitin family homolog 2 (Drosophila)"	PLEKHC1		8175911, 12697302	Standard	NM_006832		Approved	mig-2, KIND2, UNC112B	uc001xac.3	Q96AC1	OTTHUMG00000140309	ENST00000395631.2:c.193T>G	chr14.hg19:g.53386039A>C	ENSP00000378993:p.Trp65Gly		B5TJY2|Q14840|Q86TY7	Missense_Mutation	SNP	ENST00000395631.2	hg19	CCDS9713.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.140592	0.77775	.	.	ENSG00000073712	ENST00000395631;ENST00000341590;ENST00000554152;ENST00000343279;ENST00000553373;ENST00000399304;ENST00000555692;ENST00000554712	T;T;T;T;T;T;T;T	0.14893	2.47;2.47;2.47;2.47;2.47;2.47;2.47;2.47	5.82	5.82	0.92795	.	0.063724	0.64402	D	0.000002	T	0.47303	0.1438	M	0.86268	2.805	0.80722	D	1	P;P;P	0.50710	0.938;0.791;0.897	D;P;P	0.67725	0.953;0.812;0.898	T	0.52434	-0.8576	10	0.87932	D	0	.	16.1966	0.82029	1.0:0.0:0.0:0.0	.	65;65;65	Q96AC1-2;Q96AC1;B5TJY2	.;FERM2_HUMAN;.	G	65;65;7;65;65;65;21;65	ENSP00000378993:W65G;ENSP00000340391:W65G;ENSP00000450741:W7G;ENSP00000342858:W65G;ENSP00000451084:W65G;ENSP00000382243:W65G;ENSP00000452472:W21G;ENSP00000450506:W65G	ENSP00000340391:W65G	W	-	1	0	FERMT2	52455789	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.232000	0.73038	0.528000	0.53228	TGG		0.363	FERMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276907.2	NM_006832		C	53386039	A	C	53386039	3	2	666	1	0	0	0	0	1	0	0	0	5820	159	6	5	1938	5	FERMT2	14	53386039	Missense_Mutation	SNP	A	TCGA-GL-A9DC-01A-11D-A36X-10		53386039	53963501	85	36416											
DYNC1H1	1778	hgsc.bcm.edu	37	14	102431117	102431140	+	In_Frame_Del	DEL	TGCAGAAGCACCTGCGCAAGCTGG	TGCAGAAGCACCTGCGCAAGCTGG	-	rs369058949		TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	TGCAGAAGCACCTGCGCAAGCTGG	TGCAGAAGCACCTGCGCAAGCTGG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr14:102431117_102431140delTGCAGAAGCACCTGCGCAAGCTGG	ENST00000360184.4	+	1	253_276	c.89_112delTGCAGAAGCACCTGCGCAAGCTGG	c.(88-114)ctgcagaagcacctgcgcaagctggtg>ctg	p.QKHLRKLV31del		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	31					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						GTGTCGGTGCTGCAGAAGCACCTGCGCAAGCTGGTGCCGCTGCT	0.714																																																0																																										SO:0001651	inframe_deletion	1778			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.89_112delTGCAGAAGCACCTGCGCAAGCTGG	chr14.hg19:g.102431117_102431140delTGCAGAAGCACCTGCGCAAGCTGG	ENSP00000348965:p.Gln31_Val38del		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	In_Frame_Del	DEL	ENST00000360184.4	hg19	CCDS9966.1																																																																																				0.714	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		-	102431140	TGCAGAAGCACCTGCGCAAGCTGG	-	102431117	7	5	666	1	0	1	0	1	0	0	0	0	4843	1580	55	0	91	0	DYNC1H1	14	102431117	In_Frame_Del	DEL	TGCAGAAGCACCTGCGCAAGCTGG	TCGA-GL-A9DC-01A-11D-A36X-10	49045078	102431117	4918423	86	36417											
GABRG3	2567	hgsc.bcm.edu	37	15	27777821	27777821	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr15:27777821delT	ENST00000333743.6	+	10	1452	c.1198delT	c.(1198-1200)tttfs	p.F400fs	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	400					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)			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)	CTGGCAGGAATTTGAAGATAC	0.453																																					NSCLC(114;800 1656 7410 37729 45293)											0													91	94	93					15																	27777821		1976	4150	6126	SO:0001589	frameshift_variant	2567				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.1198delT	chr15.hg19:g.27777821delT	ENSP00000331912:p.Phe400fs		G3V594|Q9HD46|Q9NYT2	Frame_Shift_Del	DEL	ENST00000333743.6	hg19	CCDS45195.1																																																																																				0.453	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103584.2			-	27777821	T	-	27777821	7	5	666	1	0	1	0	1	0	0	0	0	6175	1493	52	0	1236	0	GABRG3	15	27777821	Frame_Shift_Del	DEL	T	TCGA-GL-A9DC-01A-11D-A36X-10		27777821	74753571	87	36418											
SLC12A6	9990	hgsc.bcm.edu	37	15	34551060	34551067	+	Frame_Shift_Del	DEL	TGTTCCTT	TGTTCCTT	-			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	TGTTCCTT	TGTTCCTT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr15:34551060_34551067delTGTTCCTT	ENST00000354181.3	-	5	982_989	c.490_497delAAGGAACA	c.(490-498)aaggaacatfs	p.KEH164fs	SLC12A6_ENST00000558589.1_Frame_Shift_Del_p.KEH155fs|RP11-1084A12.2_ENST00000559867.1_RNA|SLC12A6_ENST00000451844.2_Frame_Shift_Del_p.KEH25fs|SLC12A6_ENST00000560164.1_Frame_Shift_Del_p.KEH25fs|SLC12A6_ENST00000560611.1_Frame_Shift_Del_p.KEH164fs|SLC12A6_ENST00000558667.1_Frame_Shift_Del_p.KEH164fs|SLC12A6_ENST00000397707.2_Frame_Shift_Del_p.KEH149fs|SLC12A6_ENST00000290209.5_Frame_Shift_Del_p.KEH113fs|SLC12A6_ENST00000458406.2_Frame_Shift_Del_p.KEH105fs|SLC12A6_ENST00000397702.2_Frame_Shift_Del_p.KEH105fs			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	164					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)	TGCCTCTTCATGTTCCTTTGCTCCTTGA	0.447																																																0																																										SO:0001589	frameshift_variant	9990			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.490_497delAAGGAACA	chr15.hg19:g.34551060_34551067delTGTTCCTT	ENSP00000346112:p.Lys164fs		A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Frame_Shift_Del	DEL	ENST00000354181.3	hg19	CCDS58352.1																																																																																				0.447	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	NM_005135		-	34551067	TGTTCCTT	-	34551060	7	5	666	1	0	1	0	1	0	0	0	0	14393	1464	51	0	3043	0	SLC12A6	15	34551060	Frame_Shift_Del	DEL	TGTTCCTT	TCGA-GL-A9DC-01A-11D-A36X-10	6773239	34551060	67980332	88	36419											
GTF2A2	2958	hgsc.bcm.edu	37	15	59942867	59942867	+	Splice_Site	SNP	C	C	A			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr15:59942867C>A	ENST00000396060.2	-	3	359		c.e3+1		GTF2A2_ENST00000396061.1_Splice_Site|AC092755.4_ENST00000441746.1_RNA|GTF2A2_ENST00000396064.3_Splice_Site|GTF2A2_ENST00000396063.1_Splice_Site|GTF2A2_ENST00000267869.4_Intron|GTF2A2_ENST00000484743.1_Intron	NM_004492.2	NP_004483.1	P52657	T2AG_HUMAN	general transcription factor IIA, 2, 12kDa						gene expression (GO:0010467)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|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)	cell junction (GO:0030054)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIA complex (GO:0005672)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			central_nervous_system(2)|kidney(2)|lung(1)	5						AATATCCTTACCCTGAAATTG	0.398																																																0													76	71	73					15																	59942867		2190	4290	6480	SO:0001630	splice_region_variant	2958			BC001919	CCDS10173.1	15q21.3	2010-03-23	2002-08-29		ENSG00000140307	ENSG00000140307		"General transcription factors"	4647	protein-coding gene	gene with protein product		600519	"general transcription factor IIA, 2 (12kD subunit)"			7958899	Standard	NM_004492		Approved	TFIIA, HsT18745	uc002agg.3	P52657	OTTHUMG00000132725	ENST00000396060.2:c.177+1G>T	chr15.hg19:g.59942867C>A			A8MYQ7|Q6FGB5	Splice_Site	SNP	ENST00000396060.2	hg19	CCDS10173.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.498010	0.85069	.	.	ENSG00000140307	ENST00000396060;ENST00000396064;ENST00000396063;ENST00000396061	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1601	0.93527	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GTF2A2	57730159	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.172000	0.77604	2.523000	0.85059	0.555000	0.69702	.		0.398	GTF2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256067.2	NM_004492	Intron	A	59942867	C	A	59942867	5	1	666	1	0	0	0	0	0	0	1	0	6856	521	18	4	163	4	GTF2A2	15	59942867	Splice_Site	SNP	C	TCGA-GL-A9DC-01A-11D-A36X-10	25391807	59942867	42588525	89	36420											
CRAMP1L	57585	hgsc.bcm.edu	37	16	1691167	1691167	+	Missense_Mutation	SNP	T	T	C			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr16:1691167T>C	ENST00000397412.3	+	6	905	c.806T>C	c.(805-807)cTg>cCg	p.L269P	CRAMP1L_ENST00000436138.3_Missense_Mutation_p.L266P|LA16c-431H6.6_ENST00000454337.1_Silent_p.A73A|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.L269P			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	269						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						GCAACAAAGCTGAATGAACTC	0.368																																																0													137	136	137					16																	1691167		1865	4115	5980	SO:0001583	missense	57585			AB037847	CCDS10440.2	16p13.3	2008-07-30	2001-11-28		ENSG00000007545	ENSG00000007545			14122	protein-coding gene	gene with protein product			"Crm (Cramped Drosophila)-like"				Standard	NM_020825		Approved	KIAA1426	uc010uvh.2	Q96RY5	OTTHUMG00000074087	ENST00000397412.3:c.806T>C	chr16.hg19:g.1691167T>C	ENSP00000380559:p.Leu269Pro		A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Missense_Mutation	SNP	ENST00000397412.3	hg19	CCDS10440.2	.	.	.	.	.	.	.	.	.	.	T	16.10	3.026242	0.54683	.	.	ENSG00000007545	ENST00000397412;ENST00000293925;ENST00000436138	.	.	.	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000020	T	0.77585	0.4152	M	0.67700	2.07	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79680	-0.1702	9	0.62326	D	0.03	-8.9801	15.5282	0.75928	0.0:0.0:0.0:1.0	.	269	Q96RY5	CRML_HUMAN	P	269;269;266	.	ENSP00000293925:L269P	L	+	2	0	CRAMP1L	1631168	1.000000	0.71417	0.997000	0.53966	0.667000	0.39255	7.618000	0.83043	2.076000	0.62316	0.459000	0.35465	CTG		0.368	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157297.4			C	1691167	T	C	1691167	3	2	666	1	0	0	0	0	1	0	0	0	3848	1580	55	3	824	3	CRAMP1L	16	1691167	Missense_Mutation	SNP	T	TCGA-GL-A9DC-01A-11D-A36X-10		1691167	88663586	90	36421											
NUDT16L1	84309	hgsc.bcm.edu	37	16	4743827	4743827	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr16:4743827delG	ENST00000304301.6	+	1	133	c.100delG	c.(100-102)gccfs	p.A35fs	NUDT16L1_ENST00000405142.1_Frame_Shift_Del_p.A35fs|NUDT16L1_ENST00000586252.1_Frame_Shift_Del_p.A35fs|NUDT16L1_ENST00000586536.1_Frame_Shift_Del_p.A35fs	NM_032349.3	NP_115725.1	Q9BRJ7	SDOS_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 16-like 1	35						cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4						CATGCTGTACGCCGCCAACCC	0.736																																																0													18	17	17					16																	4743827		2174	4289	6463	SO:0001589	frameshift_variant	84309			BC006223	CCDS10519.1, CCDS59257.1	16p13.3	2008-02-05			ENSG00000168101	ENSG00000168101		"Nudix motif containing"	28154	protein-coding gene	gene with protein product						11805099	Standard	NM_032349		Approved	SDOS	uc002cxe.3	Q9BRJ7	OTTHUMG00000129471	ENST00000304301.6:c.100delG	chr16.hg19:g.4743827delG	ENSP00000306670:p.Ala35fs		Q8NAI2	Frame_Shift_Del	DEL	ENST00000304301.6	hg19	CCDS10519.1																																																																																				0.736	NUDT16L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251634.1	NM_032349		-	4743827	G	-	4743827	7	5	666	1	0	1	0	1	0	0	0	0	10735	1087	38	0	102	0	NUDT16L1	16	4743827	Frame_Shift_Del	DEL	G	TCGA-GL-A9DC-01A-11D-A36X-10	3052660	4743827	85610926	91	36422											
C17orf81	23587	hgsc.bcm.edu	37	17	7162047	7162047	+	Intron	SNP	A	A	G			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr17:7162047A>G	ENST00000396628.2	+	6	952				RP1-4G17.5_ENST00000577138.1_Intron|ELP5_ENST00000396627.2_Intron|ELP5_ENST00000354429.2_Intron|ELP5_ENST00000356683.2_Silent_p.V260V|ELP5_ENST00000574993.1_Silent_p.V260V	NM_203414.1	NP_981959.1	Q8TE02	ELP5_HUMAN	elongator acetyltransferase complex subunit 5						chromatin organization (GO:0006325)|positive regulation of cell migration (GO:0030335)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Elongator holoenzyme complex (GO:0033588)|nucleus (GO:0005634)											GTAGTTTAGTATCTGGTCACG	0.527																																																0													92	100	98					17																	7162047		2203	4300	6503	SO:0001627	intron_variant	23587			BC002762	CCDS11094.1, CCDS11095.1	17p13.1	2012-08-14	2012-08-08	2012-08-08	ENSG00000170291	ENSG00000170291		"Elongator acetyltransferase complex subunits"	30617	protein-coding gene	gene with protein product	"dermal papilla derived protein 6", "S-phase 2 protein"	615019	"chromosome 17 open reading frame 81"	C17orf81		22854966	Standard	NM_203415		Approved	DERP6	uc002gfi.1	Q8TE02	OTTHUMG00000177974	ENST00000396628.2:c.735+45A>G	chr17.hg19:g.7162047A>G			A8K1M5|D3DTN9|Q659B6|Q7Z2T4|Q8TDR9|Q9BUB2|Q9Y2Q4	Silent	SNP	ENST00000396628.2	hg19	CCDS11094.1																																																																																				0.527	ELP5-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440111.1	NM_015362		G	7162047	A	G	7162047	1	3	666	0	1	0	0	0	0	0	0	0	1888	436	16	3		3	C17orf81	17	7162047	Intron	SNP	A	TCGA-GL-A9DC-01A-11D-A36X-10		7162047	74033163	92	36423											
SLC47A1	55244	hgsc.bcm.edu	37	17	19480761	19480761	+	Silent	SNP	A	A	G			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr17:19480761A>G	ENST00000270570.4	+	17	1694	c.1608A>G	c.(1606-1608)aaA>aaG	p.K536K	RP11-1113L8.1_ENST00000574267.1_RNA|AC025627.7_ENST00000420951.1_RNA|SLC47A1_ENST00000436810.2_3'UTR|SLC47A1_ENST00000457293.1_Silent_p.K536K|SLC47A1_ENST00000571335.1_Silent_p.K282K|SLC47A1_ENST00000575023.1_Silent_p.K234K|SLC47A1_ENST00000395585.1_Silent_p.K536K	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	536					organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|monovalent cation:proton antiporter activity (GO:0005451)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)				Aciclovir(DB00787)|Bromodiphenhydramine(DB01237)|Cephalexin(DB00567)|Cimetidine(DB00501)|Metformin(DB00331)|Sirolimus(DB00877)	ACGGCGCTAAATTGTCCAGGA	0.507																																																0													144	148	147					17																	19480761		2203	4300	6503	SO:0001819	synonymous_variant	55244				CCDS11209.1	17p11.2	2013-07-17	2013-07-17		ENSG00000142494	ENSG00000142494		"Solute carriers"	25588	protein-coding gene	gene with protein product	"multidrug and toxin extrusion 1"	609832				16330770, 16996621, 16928787	Standard	NM_018242		Approved	FLJ10847, MATE1	uc002gvy.1	Q96FL8	OTTHUMG00000059466	ENST00000270570.4:c.1608A>G	chr17.hg19:g.19480761A>G			Q53HF5|Q6PD77|Q86VL4|Q9NVA3	Silent	SNP	ENST00000270570.4	hg19	CCDS11209.1																																																																																				0.507	SLC47A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132250.1	NM_018242		G	19480761	A	G	19480761	2	3	666	1	0	0	0	0	0	0	0	1	14653	98	4	3		3	SLC47A1	17	19480761	Silent	SNP	A	TCGA-GL-A9DC-01A-11D-A36X-10	12318714	19480761	61714449	93	36424											
MED13	9969	hgsc.bcm.edu	37	17	60061702	60061702	+	Missense_Mutation	SNP	T	T	G			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr17:60061702T>G	ENST00000397786.2	-	15	2794	c.2718A>C	c.(2716-2718)gaA>gaC	p.E906D		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	906					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						TTTGACAATTTTCAGGCTTAT	0.353																																																0													59	55	56					17																	60061702		1797	4068	5865	SO:0001583	missense	9969			AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"thyroid hormone receptor associated protein 1"	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.2718A>C	chr17.hg19:g.60061702T>G	ENSP00000380888:p.Glu906Asp		B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	hg19	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	T	18.17	3.563848	0.65651	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	T	0.74632	-0.86	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.82907	0.5139	M	0.65975	2.015	0.54753	D	0.999982	D	0.64830	0.994	D	0.70716	0.97	D	0.83879	0.0278	10	0.56958	D	0.05	-17.933	10.3148	0.43729	0.0:0.1158:0.0:0.8842	.	906	Q9UHV7	MED13_HUMAN	D	906;905	ENSP00000380888:E906D	ENSP00000262436:E905D	E	-	3	2	MED13	57416484	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.904000	0.39868	2.225000	0.72522	0.528000	0.53228	GAA		0.353	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		G	60061702	T	G	60061702	3	3	666	1	0	0	0	0	1	0	0	0	9432	1838	64	5	3870	5	MED13	17	60061702	Missense_Mutation	SNP	T	TCGA-GL-A9DC-01A-11D-A36X-10	40580941	60061702	21133508	94	36425											
FAM20A	54757	hgsc.bcm.edu	37	17	66533874	66533874	+	Missense_Mutation	SNP	T	T	C			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr17:66533874T>C	ENST00000592554.1	-	11	2092	c.1370A>G	c.(1369-1371)aAg>aGg	p.K457R	FAM20A_ENST00000226094.5_5'UTR|PRKAR1A_ENST00000588188.2_Intron	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	457					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)					AAGTGTTTTCTTTTTTATCCT	0.448																																																0													48	45	46					17																	66533874		2203	4300	6503	SO:0001583	missense	54757			AK056789	CCDS11679.1	17q24.2	2014-02-07			ENSG00000108950	ENSG00000108950			23015	protein-coding gene	gene with protein product		611062					Standard	NM_017565		Approved	DKFZp434F2322	uc002jho.3	Q96MK3	OTTHUMG00000180152	ENST00000592554.1:c.1370A>G	chr17.hg19:g.66533874T>C	ENSP00000468308:p.Lys457Arg		B2RN47|B2RN49|Q9UF95	Missense_Mutation	SNP	ENST00000592554.1	hg19	CCDS11679.1	.	.	.	.	.	.	.	.	.	.	T	8.231	0.804584	0.16467	.	.	ENSG00000108950	ENST00000226094;ENST00000375556	.	.	.	5.81	-2.2	0.06994	.	0.468058	0.27831	N	0.017669	T	0.19046	0.0457	N	0.04686	-0.185	0.26802	N	0.969185	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.14117	-1.0484	9	0.19147	T	0.46	-13.7073	14.1661	0.65477	0.0:0.5689:0.0:0.4311	.	457;319	Q96MK3;B7Z4Y3	FA20A_HUMAN;.	R	457;61	.	ENSP00000226094:K457R	K	-	2	0	FAM20A	64045469	0.995000	0.38212	0.890000	0.34922	0.794000	0.44872	0.337000	0.19841	-0.737000	0.04824	-0.375000	0.07067	AAG		0.448	FAM20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450029.2	NM_017565		C	66533874	T	C	66533874	3	2	666	1	0	0	0	0	1	0	0	0	5539	1609	56	3	259	3	FAM20A	17	66533874	Missense_Mutation	SNP	T	TCGA-GL-A9DC-01A-11D-A36X-10	6472172	66533874	14661336	95	36426											
LGALS3BP	3959	hgsc.bcm.edu	37	17	76969173	76969173	+	Missense_Mutation	SNP	A	A	G			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr17:76969173A>G	ENST00000262776.3	-	5	816	c.508T>C	c.(508-510)Tgt>Cgt	p.C170R	LGALS3BP_ENST00000585407.1_Missense_Mutation_p.C170R|LGALS3BP_ENST00000591778.1_Intron	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	170	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			GTGTGGCCACAGAAGCCCAGG	0.642																																					GBM(89;1105 1755 18102 21513)											0													54	41	46					17																	76969173		2203	4300	6503	SO:0001583	missense	3959			L13210	CCDS11759.1	17q25	2014-07-09				ENSG00000108679		"BTB/POZ domain containing", "Endogenous ligands"	6564	protein-coding gene	gene with protein product	"L3 antigen", "Mac-2-binding protein", "serum protein 90K", "transport and golgi organization 10 homolog B (Drosophila)"	600626				7698018, 8034587, 8390986	Standard	NM_005567		Approved	MAC-2-BP, 90K, BTBD17B, TANGO10B, M2BP, gp90, CyCAP	uc002jwh.3	Q08380		ENST00000262776.3:c.508T>C	chr17.hg19:g.76969173A>G	ENSP00000262776:p.Cys170Arg		Q7M4S0|Q9UCH8|Q9UCH9|Q9UCI0	Missense_Mutation	SNP	ENST00000262776.3	hg19	CCDS11759.1	.	.	.	.	.	.	.	.	.	.	A	13.38	2.219105	0.39201	.	.	ENSG00000108679	ENST00000262776;ENST00000536190	T	0.19938	2.11	3.04	3.04	0.35103	BTB/POZ-like (1);BTB/POZ fold (2);	0.000000	0.38778	N	0.001580	T	0.30603	0.0770	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.02115	-1.1211	10	0.44086	T	0.13	.	7.8817	0.29627	1.0:0.0:0.0:0.0	.	170	Q08380	LG3BP_HUMAN	R	170;158	ENSP00000262776:C170R	ENSP00000262776:C170R	C	-	1	0	LGALS3BP	74480768	0.986000	0.35501	0.287000	0.24848	0.283000	0.27025	5.780000	0.68956	1.661000	0.50771	0.459000	0.35465	TGT		0.642	LGALS3BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437785.3	NM_005567		G	76969173	A	G	76969173	3	3	666	1	0	0	0	0	1	0	0	0	8746	188	7	3	1257	3	LGALS3BP	17	76969173	Missense_Mutation	SNP	A	TCGA-GL-A9DC-01A-11D-A36X-10	10435299	76969173	4226037	96	36427											
FSCN2	25794	hgsc.bcm.edu	37	17	79495707	79495707	+	Silent	SNP	C	C	T	rs184519759	byFrequency	TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr17:79495707C>T	ENST00000417245.2	+	1	286	c.150C>T	c.(148-150)ccC>ccT	p.P50P	RP13-766D20.2_ENST00000442532.1_RNA|RP13-766D20.2_ENST00000430912.1_RNA|FSCN2_ENST00000334850.7_Silent_p.P50P	NM_001077182.2|NM_012418.3	NP_001070650.1|NP_036550.1	O14926	FSCN2_HUMAN	fascin actin-bundling protein 2, retinal	50					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|anatomical structure morphogenesis (GO:0009653)|eye photoreceptor cell development (GO:0042462)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|stereocilium (GO:0032420)	actin binding (GO:0003779)|actin filament binding (GO:0051015)			endometrium(1)|lung(1)|prostate(1)|urinary_tract(1)	4	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			TGCTGGAACCCGACCCAGGAC	0.647																																																0													18	19	18					17																	79495707		1985	4159	6144	SO:0001819	synonymous_variant	25794			AF030165	CCDS45810.1, CCDS45811.1	17q25	2014-02-03	2014-02-03		ENSG00000186765	ENSG00000186765		"Fascins"	3960	protein-coding gene	gene with protein product		607643	"fascin (Strongylocentrotus purpuratus) homolog 2 (actin-bundling protein, retinal)", "fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)"			10234509	Standard	NM_012418		Approved	RP30, RFSN	uc010wuo.2	O14926	OTTHUMG00000167477	ENST00000417245.2:c.150C>T	chr17.hg19:g.79495707C>T			A0AVC4|A8MRA6	Silent	SNP	ENST00000417245.2	hg19	CCDS45811.1																																																																																				0.647	FSCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394746.1	NM_012418		T	79495707	C	T	79495707	2	4	666	1	0	0	0	0	0	0	0	1	6070	639	23	1		1	FSCN2	17	79495707	Silent	SNP	C	TCGA-GL-A9DC-01A-11D-A36X-10	2526534	79495707	1699503	97	36428											
SIRT7	51547	hgsc.bcm.edu	37	17	79875730	79875730	+	Missense_Mutation	SNP	C	C	G			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr17:79875730C>G	ENST00000328666.6	-	2	269	c.207G>C	c.(205-207)gaG>gaC	p.E69D		NM_016538.2	NP_057622.1	Q9NRC8	SIR7_HUMAN	sirtuin 7	69	Arg-rich.				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)			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)			GCTTCAGGCCCTCGCGCCGCC	0.796																																																0													1	1	1					17																	79875730		661	1650	2311	SO:0001583	missense	51547			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.207G>C	chr17.hg19:g.79875730C>G	ENSP00000329466:p.Glu69Asp		A8K2K0|B3KSU8|Q3MIK4|Q9NSZ6|Q9NUS6	Missense_Mutation	SNP	ENST00000328666.6	hg19	CCDS11792.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.069771	0.36566	.	.	ENSG00000187531	ENST00000328666;ENST00000536038	T	0.16897	2.31	3.6	3.6	0.41247	.	0.545275	0.19339	N	0.116697	T	0.09949	0.0244	N	0.20685	0.6	0.80722	D	1	B	0.14012	0.009	B	0.12156	0.007	T	0.12682	-1.0538	10	0.12766	T	0.61	-22.0401	10.329	0.43812	0.0:0.8966:0.0:0.1034	.	69	Q9NRC8	SIRT7_HUMAN	D	69;52	ENSP00000329466:E69D	ENSP00000329466:E69D	E	-	3	2	SIRT7	77469022	0.998000	0.40836	1.000000	0.80357	0.311000	0.27955	0.921000	0.28718	1.826000	0.53198	0.195000	0.17529	GAG		0.796	SIRT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439961.1	NM_016538		G	79875730	C	G	79875730	3	3	666	1	0	0	0	0	1	0	0	0	14349	680	24	4	1031	4	SIRT7	17	79875730	Missense_Mutation	SNP	C	TCGA-GL-A9DC-01A-11D-A36X-10	380023	79875730	1319480	98	36429											
PIAS2	9063	hgsc.bcm.edu	37	18	44416418	44416418	+	Missense_Mutation	SNP	A	A	T			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr18:44416418A>T	ENST00000585916.1	-	9	1103	c.1104T>A	c.(1102-1104)ttT>ttA	p.F368L	PIAS2_ENST00000545673.1_Missense_Mutation_p.F78L|PIAS2_ENST00000324794.7_Missense_Mutation_p.F368L	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT, 2	368					androgen receptor signaling pathway (GO:0030521)|negative regulation of androgen receptor signaling pathway (GO:0060766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|regulation of osteoblast differentiation (GO:0045667)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						GGGCAGCATCAAAACACTGCA	0.413																																																0													125	111	116					18																	44416418		2203	4300	6503	SO:0001583	missense	9063			AF077953	CCDS32824.1, CCDS32825.1	18q12.1-q12.3	2011-10-11				ENSG00000078043		"Zinc fingers, MIZ-type"	17311	protein-coding gene	gene with protein product	"zinc finger, MIZ-type containing 4"	603567				9724754, 9256341	Standard	NM_004671		Approved	PIASX-BETA, miz, PIASX-ALPHA, ZMIZ4	uc002lck.3	O75928		ENST00000585916.1:c.1104T>A	chr18.hg19:g.44416418A>T	ENSP00000465676:p.Phe368Leu		O75927|Q96BT5|Q96KE3	Missense_Mutation	SNP	ENST00000585916.1	hg19	CCDS32824.1	.	.	.	.	.	.	.	.	.	.	A	19.77	3.889121	0.72524	.	.	ENSG00000078043	ENST00000398654;ENST00000262161;ENST00000398651;ENST00000545673;ENST00000324794	T;T	0.78595	-1.18;-1.19	5.52	3.17	0.36434	Zinc finger, MIZ-type (2);	0.000000	0.85682	D	0.000000	D	0.91317	0.7262	H	0.98314	4.2	0.80722	D	1	D;D;D;D;D	0.89917	0.997;1.0;0.999;1.0;0.999	D;D;D;D;D	0.91635	0.98;0.999;0.997;0.988;0.996	D	0.91010	0.4849	10	0.87932	D	0	-18.4406	8.3757	0.32442	0.7133:0.0:0.2867:0.0	.	78;372;368;368;368	B4DGW0;O75928-3;Q2TA77;O75928-2;O75928	.;.;.;.;PIAS2_HUMAN	L	368;368;364;78;368	ENSP00000443238:F78L;ENSP00000317163:F368L	ENSP00000262161:F368L	F	-	3	2	PIAS2	42670416	0.993000	0.37304	1.000000	0.80357	0.937000	0.57800	0.637000	0.24659	0.925000	0.37094	-0.467000	0.05162	TTT		0.413	PIAS2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445656.2	NM_004671		T	44416418	A	T	44416418	3	4	666	1	0	0	0	0	1	0	0	0	11878	127	5	5	860	5	PIAS2	18	44416418	Missense_Mutation	SNP	A	TCGA-GL-A9DC-01A-11D-A36X-10		44416418	33660830	99	36430											
ZNF407	55628	hgsc.bcm.edu	37	18	72352965	72352973	+	Splice_Site	DEL	ATCAAAACC	ATCAAAACC	-			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	ATCAAAACC	ATCAAAACC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr18:72352965_72352973delATCAAAACC	ENST00000299687.5	+	2	4689_4697	c.4689_4697delATCAAAACC	c.(4687-4698)ggatcaaaacca>gga	p.SKP1564del	ZNF407_ENST00000577538.1_Splice_Site_p.SKP1564del|ZNF407_ENST00000309902.6_Splice_Site_p.SKP1564del|ZNF407_ENST00000582337.1_Splice_Site_p.SKP1564del	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1564					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)		TTTACTCAGGATCAAAACCATTCAAGTGC	0.349																																																0																																										SO:0001630	splice_region_variant	55628			AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"Zinc fingers, C2H2-type"	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.4688-1ATCAAAACC>-	chr18.hg19:g.72352965_72352973delATCAAAACC			B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	In_Frame_Del	DEL	ENST00000299687.5	hg19	CCDS45885.1																																																																																				0.349	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757	In_Frame_Del	-	72352973	ATCAAAACC	-	72352965	8	5	666	1	0	1	0	1	0	0	1	0	17892	347	12	0	4695	0	ZNF407	18	72352965	Splice_Site	DEL	ATCAAAACC	TCGA-GL-A9DC-01A-11D-A36X-10	27936547	72352965	5724283	100	36431											
DIRAS1	148252	hgsc.bcm.edu	37	19	2717307	2717307	+	Silent	SNP	C	C	T			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr19:2717307C>T	ENST00000323469.4	-	2	681	c.498G>A	c.(496-498)acG>acA	p.T166T	DIRAS1_ENST00000585334.1_Silent_p.T166T	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN	DIRAS family, GTP-binding RAS-like 1	166					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			kidney(1)|lung(2)|ovary(2)|prostate(1)	6				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)		GCGTCTCCAGCGTCAGCAGCT	0.612																																																0													122	113	116					19																	2717307		2203	4300	6503	SO:0001819	synonymous_variant	148252			BC030660	CCDS12092.1	19p13.3	2014-05-09				ENSG00000176490			19127	protein-coding gene	gene with protein product		607862				12107278	Standard	NM_145173		Approved	Di-Ras1, GBTS1, RIG	uc002lwf.3	O95057		ENST00000323469.4:c.498G>A	chr19.hg19:g.2717307C>T				Silent	SNP	ENST00000323469.4	hg19	CCDS12092.1																																																																																				0.612	DIRAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451350.1			T	2717307	C	T	2717307	2	4	666	1	0	0	0	0	0	0	0	1	4532	755	27	1		1	DIRAS1	19	2717307	Silent	SNP	C	TCGA-GL-A9DC-01A-11D-A36X-10		2717307	56411676	101	36432											
PRKCSH	5589	hgsc.bcm.edu	37	19	11558367	11558367	+	Silent	SNP	G	G	A			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr19:11558367G>A	ENST00000589838.1	+	10	963	c.963G>A	c.(961-963)gaG>gaA	p.E321E	PRKCSH_ENST00000591462.1_Silent_p.E321E|PRKCSH_ENST00000252455.2_Silent_p.E321E|PRKCSH_ENST00000592741.1_Silent_p.E321E|PRKCSH_ENST00000587327.1_Silent_p.E321E|PRKCSH_ENST00000412601.1_Silent_p.E321E			P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	321	Glu-rich (acidic).				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)	p.E321_E322delEE(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						aggaggaggaggaggaagaag	0.632																																																1	Deletion - In frame(1)	central_nervous_system(1)											28	28	28					19																	11558367		2200	4298	6498	SO:0001819	synonymous_variant	5589				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.963G>A	chr19.hg19:g.11558367G>A			A8K318|Q96BU9|Q96D06|Q9P0W9	Silent	SNP	ENST00000589838.1	hg19	CCDS32911.1																																																																																				0.632	PRKCSH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458817.1			A	11558367	G	A	11558367	2	1	666	1	0	0	0	0	0	0	0	1	12521	991	35	2		2	PRKCSH	19	11558367	Silent	SNP	G	TCGA-GL-A9DC-01A-11D-A36X-10	8841060	11558367	47570616	102	36433											
ZNF823	55552	hgsc.bcm.edu	37	19	11833785	11833785	+	Silent	SNP	T	T	G			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr19:11833785T>G	ENST00000341191.6	-	4	717	c.564A>C	c.(562-564)ggA>ggC	p.G188G	ZNF823_ENST00000545749.1_Silent_p.G6G|CTC-499B15.6_ENST00000586983.1_RNA	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN	zinc finger protein 823	188					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						AAGGTCCATCTCCATGGTGTG	0.443										HNSCC(68;0.2)																																						0													93	99	97					19																	11833785		2199	4298	6497	SO:0001819	synonymous_variant	55552			X51760	CCDS45981.1	19p13.2	2013-01-08			ENSG00000197933	ENSG00000197933		"Zinc fingers, C2H2-type", "-"	30936	protein-coding gene	gene with protein product	"ZFP 36 for a zinc finger protein"						Standard	XM_006722789		Approved	HSZFP36	uc002msm.2	P16415	OTTHUMG00000156528	ENST00000341191.6:c.564A>C	chr19.hg19:g.11833785T>G			A0PJL4|B7Z8D4|Q6P4A9	Silent	SNP	ENST00000341191.6	hg19	CCDS45981.1																																																																																				0.443	ZNF823-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344516.2	NM_001080493		G	11833785	T	G	11833785	2	3	666	1	0	0	0	0	0	0	0	1	18184	1538	54	5		5	ZNF823	19	11833785	Silent	SNP	T	TCGA-GL-A9DC-01A-11D-A36X-10	275418	11833785	47295198	103	36434											
SPHK2	56848	hgsc.bcm.edu	37	19	49132774	49132774	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr19:49132774G>A	ENST00000245222.4	+	7	2075	c.1709G>A	c.(1708-1710)tGg>tAg	p.W570*	SPHK2_ENST00000599029.1_Nonsense_Mutation_p.W534*|SPHK2_ENST00000600537.1_Nonsense_Mutation_p.W511*|SPHK2_ENST00000599748.1_Nonsense_Mutation_p.W534*|SPHK2_ENST00000443164.1_Nonsense_Mutation_p.W632*|SPHK2_ENST00000598088.1_Nonsense_Mutation_p.W570*|SPHK2_ENST00000340932.3_Nonsense_Mutation_p.W532*	NM_001204158.2|NM_001243876.1|NM_020126.4	NP_001191087.1|NP_001230805.1|NP_064511.2	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	570					blood vessel development (GO:0001568)|brain development (GO:0007420)|cell proliferation (GO:0008283)|lipid phosphorylation (GO:0046834)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate biosynthetic process (GO:0006669)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	ATP binding (GO:0005524)|D-erythro-sphingosine kinase activity (GO:0017050)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|Ras GTPase binding (GO:0017016)|sphinganine kinase activity (GO:0008481)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CACCTGTGCTGGGTGCGTAGC	0.667																																																0													27	24	25					19																	49132774		2200	4297	6497	SO:0001587	stop_gained	56848			AF245447	CCDS12727.1, CCDS59404.1, CCDS59405.1, CCDS74414.1	19q13.33	2013-09-20			ENSG00000063176	ENSG00000063176			18859	protein-coding gene	gene with protein product		607092				10751414, 17895250	Standard	NM_020126		Approved		uc002pjs.3	Q9NRA0	OTTHUMG00000183318	ENST00000245222.4:c.1709G>A	chr19.hg19:g.49132774G>A	ENSP00000245222:p.Trp570*		A0T4C8|B4DU87|Q9BRN1|Q9H0Q2|Q9NWU7	Nonsense_Mutation	SNP	ENST00000245222.4	hg19	CCDS12727.1	.	.	.	.	.	.	.	.	.	.	G	39	7.795158	0.98495	.	.	ENSG00000063176	ENST00000245222;ENST00000406269;ENST00000340932;ENST00000443164	.	.	.	4.49	4.49	0.54785	.	0.199237	0.44285	D	0.000466	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-5.8616	10.1564	0.42825	0.0:0.0:0.8006:0.1993	.	.	.	.	X	570;543;532;632	.	ENSP00000245222:W570X	W	+	2	0	SPHK2	53824586	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	1.194000	0.32174	2.492000	0.84095	0.555000	0.69702	TGG		0.667	SPHK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466153.1			A	49132774	G	A	49132774	4	1	666	1	0	0	0	0	0	1	0	0	15052	1357	47	2	1731	2	SPHK2	19	49132774	Nonsense_Mutation	SNP	G	TCGA-GL-A9DC-01A-11D-A36X-10	37298989	49132774	9996209	104	36435											
HRC	3270	hgsc.bcm.edu	37	19	49657747	49657747	+	Missense_Mutation	SNP	C	C	A			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr19:49657747C>A	ENST00000252825.4	-	1	934	c.748G>T	c.(748-750)Gat>Tat	p.D250Y	HRC_ENST00000595625.1_Missense_Mutation_p.D250Y	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	250	4 X tandem repeats, acidic.|6 X approximate tandem repeats.|Asp-rich (acidic).				cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		tcatcatcatcatcatcgtca	0.498																																					Melanoma(37;75 1097 24567 25669 30645)											0													138	100	113					19																	49657747		2203	4300	6503	SO:0001583	missense	3270				CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"histidine-rich calcium-binding protein"			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.748G>T	chr19.hg19:g.49657747C>A	ENSP00000252825:p.Asp250Tyr		Q504Y6	Missense_Mutation	SNP	ENST00000252825.4	hg19	CCDS12759.1	.	.	.	.	.	.	.	.	.	.	N	12.91	2.079771	0.36662	.	.	ENSG00000130528	ENST00000252825;ENST00000434964	T	0.39787	1.06	2.35	1.24	0.21308	.	.	.	.	.	T	0.51873	0.1700	L	0.55990	1.75	0.34621	D	0.718578	D	0.56968	0.978	D	0.64144	0.922	T	0.60188	-0.7312	9	0.51188	T	0.08	.	8.641	0.33976	0.0:0.761:0.239:0.0	.	250	P23327	SRCH_HUMAN	Y	250;220	ENSP00000252825:D250Y	ENSP00000252825:D250Y	D	-	1	0	HRC	54349559	0.014000	0.17966	0.052000	0.19188	0.167000	0.22549	1.033000	0.30191	0.309000	0.22966	0.394000	0.25966	GAT		0.498	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152		A	49657747	C	A	49657747	3	1	666	1	0	0	0	0	1	0	0	0	7354	826	29	4	1375	4	HRC	19	49657747	Missense_Mutation	SNP	C	TCGA-GL-A9DC-01A-11D-A36X-10	524973	49657747	9471236	105	36436											
POLD1	5424	hgsc.bcm.edu	37	19	50918121	50918121	+	Missense_Mutation	SNP	T	T	A			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr19:50918121T>A	ENST00000440232.2	+	20	2491	c.2438T>A	c.(2437-2439)cTc>cAc	p.L813H	POLD1_ENST00000599857.1_Missense_Mutation_p.L813H|POLD1_ENST00000595904.1_Missense_Mutation_p.L839H|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	813					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)		GCGGGCCTGCTCTTCTCCTCC	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)																																				0													55	53	54					19																	50918121		2203	4300	6503	SO:0001583	missense	5424				CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"DNA polymerases"	9175	protein-coding gene	gene with protein product	"CDC2 homolog (S. cerevisiae)"	174761	"polymerase (DNA directed), delta 1, catalytic subunit (125kD)"	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.2438T>A	chr19.hg19:g.50918121T>A	ENSP00000406046:p.Leu813His	973	Q8NER3|Q96H98	Missense_Mutation	SNP	ENST00000440232.2	hg19	CCDS12795.1	.	.	.	.	.	.	.	.	.	.	T	12.00	1.806200	0.31961	.	.	ENSG00000062822	ENST00000440232;ENST00000376930	T	0.18502	2.21	4.84	4.84	0.62591	DNA polymerase, palm domain (1);DNA-directed DNA polymerase, family B, multifunctional domain (1);	0.219677	0.39909	N	0.001224	T	0.30008	0.0751	M	0.80847	2.515	0.37207	D	0.90462	B;P	0.37731	0.407;0.607	B;P	0.46208	0.309;0.507	T	0.34304	-0.9834	10	0.87932	D	0	-38.3143	8.1304	0.31024	0.2888:0.0:0.0:0.7112	.	839;813	E7EVW0;P28340	.;DPOD1_HUMAN	H	813;814	ENSP00000406046:L813H	ENSP00000366129:L814H	L	+	2	0	POLD1	55609933	1.000000	0.71417	0.998000	0.56505	0.006000	0.05464	4.017000	0.57167	1.970000	0.57323	0.449000	0.29647	CTC		0.662	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464732.1			A	50918121	T	A	50918121	3	1	666	1	0	0	0	0	1	0	0	0	12192	1551	54	5	2512	5	POLD1	19	50918121	Missense_Mutation	SNP	T	TCGA-GL-A9DC-01A-11D-A36X-10	1260374	50918121	8210862	106	36437											
VN1R2	317701	hgsc.bcm.edu	37	19	53762550	53762564	+	In_Frame_Del	DEL	TCTCCTGGGAACAGA	TCTCCTGGGAACAGA	-	rs61732642|rs146904187	byFrequency	TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	TCTCCTGGGAACAGA	TCTCCTGGGAACAGA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr19:53762550_53762564delTCTCCTGGGAACAGA	ENST00000341702.3	+	1	1006_1020	c.922_936delTCTCCTGGGAACAGA	c.(922-936)tctcctgggaacagadel	p.SPGNR308del	VN1R2_ENST00000598458.1_3'UTR	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	308					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)	p.G310G(1)		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)		CCCCAACTCTTCTCCTGGGAACAGAGCCATCCAAA	0.479																																																1	Substitution - coding silent(1)	skin(1)																																								SO:0001651	inframe_deletion	317701			AF370359	CCDS12862.1	19q13.42	2012-08-22			ENSG00000196131	ENSG00000196131		"Vomeronasal receptors / Type 1", "GPCR / Unclassified : Vomeronasal receptors, type 1"	19872	protein-coding gene	gene with protein product						12123587	Standard	NM_173856		Approved	V1RL2	uc002qbi.2	Q8NFZ6		ENST00000341702.3:c.922_936delTCTCCTGGGAACAGA	chr19.hg19:g.53762550_53762564delTCTCCTGGGAACAGA	ENSP00000351244:p.Ser308_Arg312del		A1L411|Q8TDU4	In_Frame_Del	DEL	ENST00000341702.3	hg19	CCDS12862.1																																																																																				0.479	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464285.1	NM_173856		-	53762564	TCTCCTGGGAACAGA	-	53762550	7	5	666	1	0	1	0	1	0	0	0	0	17184	1783	62	0	924	0	VN1R2	19	53762550	In_Frame_Del	DEL	TCTCCTGGGAACAGA	TCGA-GL-A9DC-01A-11D-A36X-10	2844429	53762550	5366433	107	36438											
ZNF331	55422	hgsc.bcm.edu	37	19	54080924	54080924	+	Silent	SNP	C	C	T			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr19:54080924C>T	ENST00000253144.9	+	7	2443	c.1110C>T	c.(1108-1110)ctC>ctT	p.L370L	ZNF331_ENST00000512387.1_Silent_p.L370L|ZNF331_ENST00000513265.1_3'UTR|ZNF331_ENST00000411977.2_Silent_p.L370L|ZNF331_ENST00000449416.1_Silent_p.L370L|ZNF331_ENST00000513999.1_Silent_p.L370L|ZNF331_ENST00000511154.1_Silent_p.L370L|ZNF331_ENST00000511593.2_Silent_p.L370L	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	370					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)		GCTATCACCTCACTCAGCACG	0.507			T	?	follicular thyroid adenoma																																		Dom	yes		19	19q13.3-q13.4	55422	zinc finger protein 331		E	0													100	88	92					19																	54080924		2203	4300	6503	SO:0001819	synonymous_variant	55422			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.1110C>T	chr19.hg19:g.54080924C>T			Q96GJ4	Silent	SNP	ENST00000253144.9	hg19	CCDS33102.1																																																																																				0.507	ZNF331-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371366.1	NM_018555		T	54080924	C	T	54080924	2	4	666	1	0	0	0	0	0	0	0	1	17854	813	29	2		2	ZNF331	19	54080924	Silent	SNP	C	TCGA-GL-A9DC-01A-11D-A36X-10	318374	54080924	5048059	108	36439											
SAPS1	22870	hgsc.bcm.edu	37	19	55748303	55748303	+	Missense_Mutation	SNP	G	G	A			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr19:55748303G>A	ENST00000412770.2	-	16	2353	c.1787C>T	c.(1786-1788)tCc>tTc	p.S596F	AC010327.1_ENST00000581390.1_RNA|PPP6R1_ENST00000587283.1_Missense_Mutation_p.S596F	NM_014931.3	NP_055746.3	Q9UPN7	PP6R1_HUMAN	protein phosphatase 6, regulatory subunit 1	596					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)	protein phosphatase binding (GO:0019903)			breast(1)	1						AGCATTGAGGGAGAAGGTGAT	0.622																																																0													91	94	93					19																	55748303		2113	4217	6330	SO:0001583	missense	22870			AB029038	CCDS46186.1	19q13.42	2012-04-17	2010-06-28	2010-06-28	ENSG00000105063	ENSG00000105063		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"	29195	protein-coding gene	gene with protein product		610875	"KIAA1115", "SAPS domain family, member 1"	KIAA1115, SAPS1		16769727	Standard	NM_014931		Approved	SAP190	uc002qjw.4	Q9UPN7		ENST00000412770.2:c.1787C>T	chr19.hg19:g.55748303G>A	ENSP00000414202:p.Ser596Phe		Q2M2H3|Q504V2|Q6NVJ6|Q9BU97	Missense_Mutation	SNP	ENST00000412770.2	hg19	CCDS46186.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.733755	0.69189	.	.	ENSG00000105063	ENST00000412770	T	0.49432	0.78	4.7	4.7	0.59300	.	0.000000	0.56097	D	0.000023	T	0.60051	0.2239	L	0.46157	1.445	0.38613	D	0.950959	D	0.64830	0.994	P	0.61328	0.887	T	0.65940	-0.6046	10	0.87932	D	0	-37.8255	16.9293	0.86186	0.0:0.0:1.0:0.0	.	596	Q9UPN7	PP6R1_HUMAN	F	596	ENSP00000414202:S596F	ENSP00000414202:S596F	S	-	2	0	PPP6R1	60440115	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	1.831000	0.39141	2.613000	0.88420	0.467000	0.42956	TCC		0.622	PPP6R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452663.1	NM_014931		A	55748303	G	A	55748303	3	1	666	1	0	0	0	0	1	0	0	0	13842	1174	41	2	894	2	SAPS1	19	55748303	Missense_Mutation	SNP	G	TCGA-GL-A9DC-01A-11D-A36X-10	1667379	55748303	3380680	109	36440											
C20orf4	25980	hgsc.bcm.edu	37	20	34832729	34832729	+	Missense_Mutation	SNP	A	A	C			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr20:34832729A>C	ENST00000373932.3	+	3	1214	c.868A>C	c.(868-870)Aag>Cag	p.K290Q	AAR2_ENST00000320849.4_Missense_Mutation_p.K290Q|AAR2_ENST00000397286.3_Missense_Mutation_p.K290Q	NM_015511.3	NP_056326.2	Q9Y312	AAR2_HUMAN	AAR2 splicing factor homolog (S. cerevisiae)	290																	AGCCATGATGAAGCACCACAC	0.522																																																0													237	189	206					20																	34832729		2203	4300	6503	SO:0001583	missense	25980				CCDS13273.1	20q11.23	2012-07-20	2012-07-20	2012-07-20	ENSG00000131043	ENSG00000131043			15886	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 4"	C20orf4			Standard	NM_015511		Approved	bA234K24.2	uc002xfc.3	Q9Y312	OTTHUMG00000032380	ENST00000373932.3:c.868A>C	chr20.hg19:g.34832729A>C	ENSP00000363043:p.Lys290Gln		E1P5S7|Q9H4F9|Q9P1P3|Q9UFK9	Missense_Mutation	SNP	ENST00000373932.3	hg19	CCDS13273.1	.	.	.	.	.	.	.	.	.	.	A	12.67	2.007091	0.35415	.	.	ENSG00000131043	ENST00000397286;ENST00000320849;ENST00000373932	T;T;T	0.46819	0.86;0.86;0.86	6.03	4.94	0.65067	.	0.280019	0.46442	D	0.000292	T	0.29749	0.0743	N	0.25245	0.725	0.35498	D	0.79959	B;B	0.26902	0.163;0.029	B;B	0.30029	0.11;0.029	T	0.31971	-0.9924	10	0.14656	T	0.56	.	6.9997	0.24803	0.7752:0.1505:0.0743:0.0	.	290;290	A2A2Q9;Q9Y312	.;CT004_HUMAN	Q	290	ENSP00000380455:K290Q;ENSP00000313674:K290Q;ENSP00000363043:K290Q	ENSP00000313674:K290Q	K	+	1	0	C20orf4	34296143	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.832000	0.55783	2.308000	0.77769	0.533000	0.62120	AAG		0.522	AAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079001.2	NM_015511		C	34832729	A	C	34832729	3	2	666	1	0	0	0	0	1	0	0	0	2113	247	9	5	874	5	C20orf4	20	34832729	Missense_Mutation	SNP	A	TCGA-GL-A9DC-01A-11D-A36X-10		34832729	28192791	110	36441											
BCAS1	8537	hgsc.bcm.edu	37	20	52569985	52569991	+	Frame_Shift_Del	DEL	AGCCCCC	AGCCCCC	-	rs200870946|rs375030303	byFrequency	TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	AGCCCCC	AGCCCCC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr20:52569985_52569991delAGCCCCC	ENST00000395961.3	-	11	1826_1832	c.1660_1666delGGGGGCT	c.(1660-1668)gggggcttcfs	p.GGF554fs	BCAS1_ENST00000434986.2_Frame_Shift_Del_p.GGF220fs|BCAS1_ENST00000371435.2_Frame_Shift_Del_p.GGF476fs|BCAS1_ENST00000371440.3_Frame_Shift_Del_p.GGF563fs	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	554						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			CCTTTAAAGAAGCCCCCAAGGGACTGC	0.527																																																0																																										SO:0001589	frameshift_variant	8537			AF041260	CCDS13444.1	20q13.2	2006-11-10			ENSG00000064787	ENSG00000064787			974	protein-coding gene	gene with protein product		602968				9671742	Standard	NM_003657		Approved	NABC1, AIBC1	uc002xws.2	O75363	OTTHUMG00000032772	ENST00000395961.3:c.1660_1666delGGGGGCT	chr20.hg19:g.52569985_52569991delAGCCCCC	ENSP00000379290:p.Gly554fs		A0AVG5|Q68CZ3	Frame_Shift_Del	DEL	ENST00000395961.3	hg19	CCDS13444.1																																																																																				0.527	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079766.2	NM_003657		-	52569991	AGCCCCC	-	52569985	7	5	666	1	0	1	0	1	0	0	0	0	1350	72	3	0	96	0	BCAS1	20	52569985	Frame_Shift_Del	DEL	AGCCCCC	TCGA-GL-A9DC-01A-11D-A36X-10	17737256	52569985	10455535	111	36442											
CSF2RB	1439	hgsc.bcm.edu	37	22	37333782	37333782	+	Missense_Mutation	SNP	G	G	T			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr22:37333782G>T	ENST00000403662.3	+	14	2154	c.1932G>T	c.(1930-1932)caG>caT	p.Q644H	CSF2RB_ENST00000536485.1_Missense_Mutation_p.Q591H|CSF2RB_ENST00000262825.5_Missense_Mutation_p.Q650H|CSF2RB_ENST00000406230.1_Missense_Mutation_p.Q650H			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	644					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)	CTCTGGCCCAGGCGATGGGAC	0.701																																																0													8	9	9					22																	37333782		2169	4247	6416	SO:0001583	missense	1439			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.1932G>T	chr22.hg19:g.37333782G>T	ENSP00000384053:p.Gln644His		Q5JZI1|Q6ICE0	Missense_Mutation	SNP	ENST00000403662.3	hg19	CCDS13936.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.503380	0.44558	.	.	ENSG00000100368	ENST00000403662;ENST00000539104;ENST00000262825;ENST00000406230;ENST00000536485	D;D;D;D	0.93426	-2.71;-3.22;-3.22;-3.22	5.12	3.0	0.34707	.	0.556068	0.15041	N	0.283883	D	0.94984	0.8377	M	0.71581	2.175	0.27457	N	0.953266	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.978	D	0.87687	0.2551	10	0.22706	T	0.39	-24.6502	8.2995	0.32006	0.1892:0.0:0.8108:0.0	.	650;644	P32927-2;P32927	.;IL3RB_HUMAN	H	644;644;650;650;591	ENSP00000384053:Q644H;ENSP00000262825:Q650H;ENSP00000385271:Q650H;ENSP00000440003:Q591H	ENSP00000262825:Q650H	Q	+	3	2	CSF2RB	35663728	0.988000	0.35896	0.966000	0.40874	0.362000	0.29581	0.976000	0.29462	1.161000	0.42604	0.557000	0.71058	CAG		0.701	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318854.1	NM_000395		T	37333782	G	T	37333782	3	4	666	1	0	0	0	0	1	0	0	0	3937	991	35	4	1982	4	CSF2RB	22	37333782	Missense_Mutation	SNP	G	TCGA-GL-A9DC-01A-11D-A36X-10		37333782	13970784	112	36443											
SREBF2	6721	hgsc.bcm.edu	37	22	42280845	42280846	+	Splice_Site	DNP	GG	GG	AT			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chr22:42280845_42280846GG>AT	ENST00000361204.4	+	11	2204_2205	c.2038_2039GG>AT	c.(2038-2040)GGg>ATg	p.G680M		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	680					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						GCCCACCCTAGGGAAGCTTCCT	0.535																																																0																																										SO:0001630	splice_region_variant	6721			U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911		"Basic helix-loop-helix proteins"	11290	protein-coding gene	gene with protein product		600481				7903453	Standard	NM_004599		Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	Exception_encountered	chr22.hg19:g.42280845_42280846delinsAT			Q05BD5|Q6GTH7|Q86V36|Q9UH04	Splice_Site|Missense_Mutation	SNP	ENST00000361204.4	hg19	CCDS14023.1																																																																																				0.535	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321956.1	NM_004599	Missense_Mutation	AT	42280846	GG	AT	42280845	5	1	666	1	0	0	0	0	0	0	1	0	15147	1014	35	2	2080	2	SREBF2	22	42280845	Splice_Site	DNP	GG	TCGA-GL-A9DC-01A-11D-A36X-10	4947063	42280845	9023721	113	36444											
KDM5C	8242	hgsc.bcm.edu	37	X	53223343	53223343	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chrX:53223343C>T	ENST00000375401.3	-	23	4548	c.4016G>A	c.(4015-4017)gGc>gAc	p.G1339D	KDM5C_ENST00000375379.3_Missense_Mutation_p.G1339D|KDM5C_ENST00000404049.3_Missense_Mutation_p.G1338D|KDM5C_ENST00000375383.3_Missense_Mutation_p.G1298D|KDM5C_ENST00000452825.3_Missense_Mutation_p.G1272D	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	1339					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						CTTGCCACTGCCCTCTCTGAG	0.612			"N, F, S"		clear cell renal carcinoma																																		Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	0													22	20	21					X																	53223343		2201	4299	6500	SO:0001583	missense	8242			Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	11114	protein-coding gene	gene with protein product		314690	"Jumonji, AT rich interactive domain 1C (RBP2-like)", "Smcy homolog, X-linked (mouse)", "jumonji, AT rich interactive domain 1C", "mental retardation, X-linked 13"	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.4016G>A	chrX.hg19:g.53223343C>T	ENSP00000364550:p.Gly1339Asp		B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Missense_Mutation	SNP	ENST00000375401.3	hg19	CCDS14351.1	.	.	.	.	.	.	.	.	.	.	c	0.196	-1.048772	0.01981	.	.	ENSG00000126012	ENST00000452825;ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	D;D;D;D;D	0.85773	-2.03;-1.71;-1.71;-1.73;-1.86	4.76	3.9	0.45041	.	0.400598	0.27631	N	0.018501	T	0.72087	0.3417	L	0.34521	1.04	0.26500	N	0.974785	B;B;B	0.11235	0.004;0.004;0.004	B;B;B	0.13407	0.009;0.003;0.003	T	0.53933	-0.8368	10	0.02654	T	1	-4.4102	8.1117	0.30917	0.0:0.8839:0.0:0.1161	.	1272;1338;1339	F5H3T1;B0QZ44;P41229	.;.;KDM5C_HUMAN	D	1272;1339;1338;1339;1298	ENSP00000445176:G1272D;ENSP00000364550:G1339D;ENSP00000385394:G1338D;ENSP00000364528:G1339D;ENSP00000364532:G1298D	ENSP00000364528:G1339D	G	-	2	0	KDM5C	53240068	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	1.338000	0.33873	0.825000	0.34637	0.507000	0.49892	GGC		0.612	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187		T	53223343	C	T	53223343	3	4	666	1	0	0	0	0	1	0	0	0	8137	739	26	2	780	2	KDM5C	23	53223343	Missense_Mutation	SNP	C	TCGA-GL-A9DC-01A-11D-A36X-10		53223343	102047217	114	36445											
AR	367	hgsc.bcm.edu	37	X	66765164	66765164	+	Missense_Mutation	SNP	A	A	T			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chrX:66765164A>T	ENST00000374690.3	+	1	700	c.176A>T	c.(175-177)cAg>cTg	p.Q59L	AR_ENST00000504326.1_Missense_Mutation_p.Q59L|AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Missense_Mutation_p.Q59L	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	59	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)			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)	CTGCTgcagcagcagcagcag	0.677									Androgen Insensitivity Syndrome																																							0													7	10	9					X																	66765164		2055	4063	6118	SO:0001583	missense	367	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"Nuclear hormone receptors"	644	protein-coding gene	gene with protein product	"testicular feminization", "Kennedy disease"	313700	"dihydrotestosterone receptor", "spinal and bulbar muscular atrophy"	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.176A>T	chrX.hg19:g.66765164A>T	ENSP00000363822:p.Gln59Leu		A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	ENST00000374690.3	hg19	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	a	12.32	1.901651	0.33535	.	.	ENSG00000169083	ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	T;T;T	0.69175	-0.38;-0.38;-0.38	.	.	.	.	1.117170	0.06949	N	0.814177	T	0.47060	0.1425	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	0.31724	-0.9933	8	0.13108	T	0.6	.	.	.	.	.	59;59	E7EVX6;D3YPQ2	.;.	L	59	ENSP00000363822:Q59L;ENSP00000421155:Q59L;ENSP00000379359:Q59L	ENSP00000363822:Q59L	Q	+	2	0	AR	66681889	0.995000	0.38212	0.864000	0.33941	0.503000	0.33858	0.245000	0.18142	0.000000	0.14550	0.000000	0.15137	CAG		0.677	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		T	66765164	A	T	66765164	3	4	666	1	0	0	0	0	1	0	0	0	836	188	7	5	178	5	AR	23	66765164	Missense_Mutation	SNP	A	TCGA-GL-A9DC-01A-11D-A36X-10	13541821	66765164	88505396	115	36446											
MAGT1	84061	hgsc.bcm.edu	37	X	77131066	77131066	+	Missense_Mutation	SNP	A	A	G			TCGA-GL-A9DC-01A-11D-A36X-10	TCGA-GL-A9DC-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dbe2fec-20a5-4107-a6b3-b91b4646f2cb	ac49247f-bdb9-4f02-b075-ac3855d5a824	g.chrX:77131066A>G	ENST00000373336.3	-	2	160	c.131T>C	c.(130-132)cTg>cCg	p.L44P	MAGT1_ENST00000358075.6_Missense_Mutation_p.L76P			Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	44					cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|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 plasma membrane (GO:0005887)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)			cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						CCATTCCATCAGCTGACTAAC	0.388																																																0													174	163	167					X																	77131066		2203	4296	6499	SO:0001583	missense	84061				CCDS14436.2	Xq21.1	2014-09-17			ENSG00000102158	ENSG00000102158			28880	protein-coding gene	gene with protein product	"oligosaccharyltransferase 3 homolog B (S. cerevisiae)"	300715				15804357	Standard	NM_032121		Approved	DKFZp564K142, IAP, OST3B, MRX95	uc004fof.3	Q9H0U3	OTTHUMG00000021882	ENST00000373336.3:c.131T>C	chrX.hg19:g.77131066A>G	ENSP00000362433:p.Leu44Pro		B2RAR4|D3DTE3|Q53G00|Q6P577|Q8NBN6	Missense_Mutation	SNP	ENST00000373336.3	hg19		.	.	.	.	.	.	.	.	.	.	A	23.4	4.407210	0.83230	.	.	ENSG00000102158	ENST00000358075;ENST00000373336	T;T	0.26067	1.76;1.76	5.69	5.69	0.88448	.	0.063289	0.64402	U	0.000008	T	0.54886	0.1886	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75484	0.977;0.986	T	0.61946	-0.6958	10	0.87932	D	0	-6.7821	14.9683	0.71213	1.0:0.0:0.0:0.0	.	44;76	Q9H0U3;B4DH58	MAGT1_HUMAN;.	P	76;44	ENSP00000354649:L76P;ENSP00000362433:L44P	ENSP00000354649:L76P	L	-	2	0	MAGT1	77017722	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.859000	0.92264	1.917000	0.55516	0.486000	0.48141	CTG		0.388	MAGT1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000057302.2	NM_032121		G	77131066	A	G	77131066	3	3	666	1	0	0	0	0	1	0	0	0	9198	188	7	3	912	3	MAGT1	23	77131066	Missense_Mutation	SNP	A	TCGA-GL-A9DC-01A-11D-A36X-10	10365902	77131066	78139494	116	36447											
MFN2	9927	hgsc.bcm.edu	37	1	12052714	12052714	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr1:12052714C>T	ENST00000235329.5	+	4	600	c.278C>T	c.(277-279)gCt>gTt	p.A93V	MFN2_ENST00000444836.1_Missense_Mutation_p.A93V	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	93	Dynamin-type G.				apoptotic process (GO:0006915)|autophagy (GO:0006914)|blastocyst formation (GO:0001825)|blood coagulation (GO:0007596)|camera-type eye morphogenesis (GO:0048593)|mitochondrial fusion (GO:0008053)|mitochondrial membrane organization (GO:0007006)|mitochondrion localization (GO:0051646)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of smooth muscle cell proliferation (GO:0048662)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to mitochondrion (GO:0006626)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intrinsic component of mitochondrial outer membrane (GO:0031306)|microtubule cytoskeleton (GO:0015630)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	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;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		GAGGTGCTGGCTCGGAGGCAC	0.527																																																0													242	220	228					1																	12052714		2203	4300	6503	SO:0001583	missense	9927			AF036536	CCDS30587.1	1p36.22	2014-09-17			ENSG00000116688	ENSG00000116688			16877	protein-coding gene	gene with protein product		608507				12499352, 11181170	Standard	NM_014874		Approved	CPRP1, KIAA0214, MARF, CMT2A2	uc009vni.3	O95140	OTTHUMG00000002392	ENST00000235329.5:c.278C>T	chr1.hg19:g.12052714C>T	ENSP00000235329:p.Ala93Val		A8K1B3|O95572|Q5JXC3|Q5JXC4|Q9H131|Q9NSX8	Missense_Mutation	SNP	ENST00000235329.5	hg19	CCDS30587.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.498702	0.64298	.	.	ENSG00000116688	ENST00000444836;ENST00000235329;ENST00000412236	D;D;D	0.95482	-3.72;-3.72;-3.63	5.5	5.5	0.81552	.	0.106729	0.64402	D	0.000006	D	0.93452	0.7911	L	0.50333	1.59	0.80722	D	1	B	0.20671	0.047	B	0.16289	0.015	D	0.90115	0.4195	10	0.32370	T	0.25	-25.6319	18.3893	0.90477	0.0:1.0:0.0:0.0	.	93	O95140	MFN2_HUMAN	V	93	ENSP00000416338:A93V;ENSP00000235329:A93V;ENSP00000412023:A93V	ENSP00000235329:A93V	A	+	2	0	MFN2	11975301	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.487000	0.81328	2.588000	0.87417	0.561000	0.74099	GCT		0.527	MFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006859.2	NM_014874		T	12052714	C	T	12052714	3	4	667	1	0	0	0	0	1	0	0	0	9526	797	28	2	284	2	MFN2	1	12052714	Missense_Mutation	SNP	C	TCGA-GL-A9DD-01A-11D-A36X-10		12052714	237197907	1	36448											
CROCC	9696	hgsc.bcm.edu	37	1	17256398	17256398	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr1:17256398delC	ENST00000375541.5	+	4	478	c.409delC	c.(409-411)ctgfs	p.L137fs	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)		GCCCAGGGGGCTGGTACGGCA	0.711																																																0													9	11	10					1																	17256398		2172	4244	6416	SO:0001589	frameshift_variant	9696			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.409delC	chr1.hg19:g.17256398delC	ENSP00000364691:p.Leu137fs			Frame_Shift_Del	DEL	ENST00000375541.5	hg19	CCDS30616.1																																																																																				0.711	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		-	17256398	C	-	17256398	7	5	667	1	0	1	0	1	0	0	0	0	3895	796	28	0	423	0	CROCC	1	17256398	Frame_Shift_Del	DEL	C	TCGA-GL-A9DD-01A-11D-A36X-10	5203684	17256398	231994223	2	36449											
SFRS4	6429	hgsc.bcm.edu	37	1	29486974	29486974	+	Missense_Mutation	SNP	G	G	C			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr1:29486974G>C	ENST00000373795.4	-	2	397	c.163C>G	c.(163-165)Ctg>Gtg	p.L55V	SRSF4_ENST00000546138.1_Missense_Mutation_p.L55V|SRSF4_ENST00000466448.1_5'UTR	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN	serine/arginine-rich splicing factor 4	55	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				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						TTGCCATTCAGTTCATAAACA	0.458																																																0													191	166	175					1																	29486974		2203	4300	6503	SO:0001583	missense	6429			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.163C>G	chr1.hg19:g.29486974G>C	ENSP00000362900:p.Leu55Val		Q5VXP1|Q9BUA4|Q9UEB5	Missense_Mutation	SNP	ENST00000373795.4	hg19	CCDS333.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.678755	0.47886	.	.	ENSG00000116350	ENST00000373795;ENST00000434636;ENST00000546138	T;T	0.80653	1.82;-1.4	5.23	3.34	0.38264	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.070031	0.64402	D	0.000017	D	0.86318	0.5904	M	0.74258	2.255	0.54753	D	0.999987	D;D	0.67145	0.995;0.996	D;D	0.72982	0.947;0.979	D	0.85670	0.1294	10	0.87932	D	0	.	6.2158	0.20653	0.1568:0.0:0.6966:0.1466	.	55;55	F6T1J1;Q08170	.;SRSF4_HUMAN	V	55	ENSP00000362900:L55V;ENSP00000444600:L55V	ENSP00000362900:L55V	L	-	1	2	SRSF4	29359561	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.066000	0.50002	1.203000	0.43233	0.561000	0.74099	CTG		0.458	SRSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010392.1	NM_005626		C	29486974	G	C	29486974	3	2	667	1	0	0	0	0	1	0	0	0	14185	1020	36	4	1341	4	SFRS4	1	29486974	Missense_Mutation	SNP	G	TCGA-GL-A9DD-01A-11D-A36X-10	12230576	29486974	219763647	3	36450											
FAM151A	338094	hgsc.bcm.edu	37	1	55080373	55080373	+	Splice_Site	SNP	T	T	C			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr1:55080373T>C	ENST00000302250.2	-	4	735	c.575A>G	c.(574-576)cAg>cGg	p.Q192R	ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Splice_Site_p.Q192R	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	192						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						GAACACTCACTGTGTGGCATT	0.542																																																0													129	100	110					1																	55080373		2203	4300	6503	SO:0001630	splice_region_variant	338094			AK091901	CCDS594.1	1p32.3	2008-02-05	2007-12-18	2007-12-18	ENSG00000162391	ENSG00000162391			25032	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 179"	C1orf179		17273976	Standard	NM_176782		Approved	MGC27169	uc001cxn.3	Q8WW52	OTTHUMG00000009888	ENST00000302250.2:c.575+1A>G	chr1.hg19:g.55080373T>C			Q5VUG5|Q6DKH5|Q6UWV0|Q8NAX9|Q96KY5	Missense_Mutation	SNP	ENST00000302250.2	hg19	CCDS594.1	.	.	.	.	.	.	.	.	.	.	T	5.034	0.191930	0.09547	.	.	ENSG00000162391	ENST00000302250;ENST00000371304;ENST00000294370	T;T	0.10960	2.82;2.82	3.7	-0.227	0.13102	.	0.539876	0.18021	N	0.154258	T	0.05044	0.0135	N	0.12663	0.25	0.58432	D	0.999999	B	0.15141	0.012	B	0.18561	0.022	T	0.43376	-0.9395	9	.	.	.	-4.4951	8.1077	0.30896	0.0:0.4413:0.0:0.5587	.	192	Q8WW52	F151A_HUMAN	R	192	ENSP00000306888:Q192R;ENSP00000360353:Q192R	.	Q	-	2	0	FAM151A	54852961	0.001000	0.12720	0.846000	0.33378	0.520000	0.34377	-0.605000	0.05661	-0.116000	0.11893	0.379000	0.24179	CAG		0.542	FAM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027342.1	NM_176782	Missense_Mutation	C	55080373	T	C	55080373	5	2	667	1	0	0	0	0	0	0	1	0	5460	1594	55	3	1202	3	FAM151A	1	55080373	Splice_Site	SNP	T	TCGA-GL-A9DD-01A-11D-A36X-10	25593399	55080373	194170248	4	36451											
SLC44A5	204962	hgsc.bcm.edu	37	1	75669452	75669452	+	Missense_Mutation	SNP	T	T	A			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr1:75669452T>A	ENST00000370859.3	-	24	2259	c.2114A>T	c.(2113-2115)aAg>aTg	p.K705M		NM_001130058.1	NP_001123530.1	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	705					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						CTGGAAAATCTTCAGCAAAGG	0.408																																																0													203	201	202					1																	75669452		692	1591	2283	SO:0001583	missense	204962			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	ENST00000370859.3:c.2114A>T	chr1.hg19:g.75669452T>A	ENSP00000359896:p.Lys705Met		B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Missense_Mutation	SNP	ENST00000370859.3	hg19	CCDS44164.1	.	.	.	.	.	.	.	.	.	.	T	14.64	2.595748	0.46318	.	.	ENSG00000137968	ENST00000370859;ENST00000536707	T	0.12255	2.7	5.53	5.53	0.82687	.	.	.	.	.	T	0.28034	0.0691	M	0.77616	2.38	0.80722	D	1	D;P;D	0.60160	0.987;0.868;0.984	P;P;P	0.62649	0.806;0.729;0.905	T	0.03278	-1.1053	9	0.59425	D	0.04	.	15.9488	0.79817	0.0:0.0:0.0:1.0	.	744;705;744	B7Z470;Q8NCS7-2;F5GYS0	.;.;.	M	705;744	ENSP00000359896:K705M	ENSP00000359896:K705M	K	-	2	0	SLC44A5	75442040	0.843000	0.29541	0.999000	0.59377	0.388000	0.30384	1.986000	0.40677	2.227000	0.72691	0.533000	0.62120	AAG		0.408	SLC44A5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026823.3	NM_152697		A	75669452	T	A	75669452	3	1	667	1	0	0	0	0	1	0	0	0	14645	1609	56	5	43	5	SLC44A5	1	75669452	Missense_Mutation	SNP	T	TCGA-GL-A9DD-01A-11D-A36X-10	20589079	75669452	173581169	5	36452											
C1orf59	113802	hgsc.bcm.edu	37	1	109192980	109192980	+	Silent	SNP	G	G	A			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr1:109192980G>A	ENST00000370032.5	-	7	1029	c.609C>T	c.(607-609)taC>taT	p.Y203Y	HENMT1_ENST00000402983.1_Silent_p.Y203Y|HENMT1_ENST00000493676.1_5'UTR|HENMT1_ENST00000370031.1_Silent_p.Y203Y	NM_144584.2	NP_653185.2	Q5T8I9	HENMT_HUMAN	HEN1 methyltransferase homolog 1 (Arabidopsis)	203					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						ACTCCACAGAGTAATCATAGC	0.423																																																0													91	85	87					1																	109192980		2203	4300	6503	SO:0001819	synonymous_variant	113802				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.609C>T	chr1.hg19:g.109192980G>A			A8MRR6|B1AM16|B1AM17|Q96EJ7|Q96NN0	Silent	SNP	ENST00000370032.5	hg19	CCDS787.1																																																																																				0.423	HENMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030592.1	NM_144584		A	109192980	G	A	109192980	2	1	667	1	0	0	0	0	0	0	0	1	2053	1024	36	2		2	C1orf59	1	109192980	Silent	SNP	G	TCGA-GL-A9DD-01A-11D-A36X-10	33523528	109192980	140057641	6	36453											
ASH1L	55870	hgsc.bcm.edu	37	1	155449729	155449729	+	Silent	SNP	A	A	G			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr1:155449729A>G	ENST00000368346.3	-	3	3571	c.2932T>C	c.(2932-2934)Tta>Cta	p.L978L	ASH1L_ENST00000392403.3_Silent_p.L978L			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	978					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)			GTTTTCATTAATTGTCCATTG	0.323																																																0													62	64	63					1																	155449729		2202	4300	6502	SO:0001819	synonymous_variant	55870			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.2932T>C	chr1.hg19:g.155449729A>G			Q59GP1|Q5T714|Q5T715|Q9P2C7	Silent	SNP	ENST00000368346.3	hg19																																																																																					0.323	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		G	155449729	A	G	155449729	2	3	667	1	0	0	0	0	0	0	0	1	1041	98	4	3		3	ASH1L	1	155449729	Silent	SNP	A	TCGA-GL-A9DD-01A-11D-A36X-10	46256749	155449729	93800892	7	36454											
LMNA	4000	hgsc.bcm.edu	37	1	156105104	156105104	+	Splice_Site	SNP	G	G	A	rs267607588		TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr1:156105104G>A	ENST00000368300.4	+	5	1148		c.e5+1		LMNA_ENST00000448611.2_Splice_Site|LMNA_ENST00000392353.3_Splice_Site|LMNA_ENST00000368297.1_Splice_Site|LMNA_ENST00000368301.2_Splice_Site|LMNA_ENST00000368299.3_Splice_Site|LMNA_ENST00000361308.4_Splice_Site|LMNA_ENST00000496738.1_Splice_Site|LMNA_ENST00000473598.2_Splice_Site|LMNA_ENST00000347559.2_Splice_Site	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C						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)					CCAGAAGCAGGTGATACCCCA	0.672									Werner syndrome;Hutchinson-Gilford Progeria Syndrome																																							0													22	25	24					1																	156105104		2202	4299	6501	SO:0001630	splice_region_variant	4000	Familial Cancer Database	WS, Adult Progeria;HGPS, Progeria	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.936+1G>A	chr1.hg19:g.156105104G>A			B4DI32|D3DVB0|D6RAQ3|E7EUI9|P02546|Q5I6Y4|Q5I6Y6|Q5TCJ2|Q5TCJ3|Q6UYC3|Q969I8|Q96JA2	Splice_Site	SNP	ENST00000368300.4	hg19	CCDS1129.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.186744	0.78789	.	.	ENSG00000160789	ENST00000368301;ENST00000347559;ENST00000361308;ENST00000368300;ENST00000368299;ENST00000292302;ENST00000392355;ENST00000448611;ENST00000368297;ENST00000473598;ENST00000392353	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1117	0.86676	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LMNA	154371728	1.000000	0.71417	0.999000	0.59377	0.821000	0.46438	9.781000	0.99029	2.653000	0.90120	0.563000	0.77884	.		0.672	LMNA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039200.2	NM_170707	Intron	A	156105104	G	A	156105104	5	1	667	1	0	0	0	0	0	0	1	0	8850	1275	44	2	955	2	LMNA	1	156105104	Splice_Site	SNP	G	TCGA-GL-A9DD-01A-11D-A36X-10	655375	156105104	93145517	8	36455											
IQGAP3	128239	hgsc.bcm.edu	37	1	156510499	156510499	+	Splice_Site	SNP	C	C	A			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr1:156510499C>A	ENST00000361170.2	-	23	2750		c.e23+1		IQGAP3_ENST00000498755.1_5'Flank	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3						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)					GGGCCCCATACCTGCAGAGTG	0.512																																																0													149	101	117					1																	156510499		2203	4300	6503	SO:0001630	splice_region_variant	128239			AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.2739+1G>T	chr1.hg19:g.156510499C>A			Q5T3H8	Splice_Site	SNP	ENST00000361170.2	hg19	CCDS1144.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.297384	0.60086	.	.	ENSG00000183856	ENST00000361170	.	.	.	4.71	4.71	0.59529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1956	0.73084	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	IQGAP3	154777123	1.000000	0.71417	1.000000	0.80357	0.555000	0.35460	7.633000	0.83260	2.435000	0.82474	0.591000	0.81541	.		0.512	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229	Intron	A	156510499	C	A	156510499	5	1	667	1	0	0	0	0	0	0	1	0	7818	521	18	4	2219	4	IQGAP3	1	156510499	Splice_Site	SNP	C	TCGA-GL-A9DD-01A-11D-A36X-10	405395	156510499	92740122	9	36456											
RSAD2	91543	hgsc.bcm.edu	37	2	7035978	7035978	+	Missense_Mutation	SNP	G	G	A			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr2:7035978G>A	ENST00000382040.3	+	6	1127	c.991G>A	c.(991-993)Gaa>Aaa	p.E331K	RSAD2_ENST00000541728.1_Missense_Mutation_p.E224K	NM_080657.4	NP_542388.2			radical S-adenosyl methionine domain containing 2											endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		TGGTGTAGAAGAAGCTATAAA	0.413																																																0													86	83	84					2																	7035978		2203	4300	6503	SO:0001583	missense	91543			AF442151	CCDS1656.1	2p25.2	2008-02-05			ENSG00000134321	ENSG00000134321			30908	protein-coding gene	gene with protein product		607810				11752458	Standard	NM_080657		Approved	cig5, viperin, vig1	uc002qyp.1	Q8WXG1	OTTHUMG00000090352	ENST00000382040.3:c.991G>A	chr2.hg19:g.7035978G>A	ENSP00000371471:p.Glu331Lys			Missense_Mutation	SNP	ENST00000382040.3	hg19	CCDS1656.1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.730833	0.30684	.	.	ENSG00000134321	ENST00000382040;ENST00000541728	T	0.29397	1.57	5.57	4.67	0.58626	.	0.234163	0.49916	N	0.000122	T	0.17662	0.0424	N	0.19112	0.55	0.40643	D	0.981964	B	0.06786	0.001	B	0.08055	0.003	T	0.08330	-1.0727	10	0.13108	T	0.6	-20.1755	10.0238	0.42059	0.0715:0.1391:0.7894:0.0	.	331	Q8WXG1	RSAD2_HUMAN	K	331;224	ENSP00000371471:E331K	ENSP00000371471:E331K	E	+	1	0	RSAD2	6953429	0.982000	0.34865	0.642000	0.29436	0.977000	0.68977	1.644000	0.37228	1.459000	0.47892	0.655000	0.94253	GAA		0.413	RSAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206724.2	NM_080657		A	7035978	G	A	7035978	3	1	667	1	0	0	0	0	1	0	0	0	13701	943	33	2	1013	2	RSAD2	2	7035978	Missense_Mutation	SNP	G	TCGA-GL-A9DD-01A-11D-A36X-10		7035978	236163395	10	36457											
SFRS7	6432	hgsc.bcm.edu	37	2	38977271	38977271	+	Missense_Mutation	SNP	T	T	C			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr2:38977271T>C	ENST00000313117.6	-	2	331	c.94A>G	c.(94-96)Agt>Ggt	p.S32G	SRSF7_ENST00000409276.1_Missense_Mutation_p.S32G|SRSF7_ENST00000446327.2_Missense_Mutation_p.S32G|GEMIN6_ENST00000409011.1_5'Flank	NM_001031684.2|NM_001195446.1	NP_001026854.1|NP_001182375.1	Q16629	SRSF7_HUMAN	serine/arginine-rich splicing factor 7	32	RRM. {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)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CCATAATAACTGAAAGCCCTT	0.428																																																0													117	114	115					2																	38977271		2203	4300	6503	SO:0001583	missense	6432			L41887	CCDS33183.1, CCDS56115.1	2p22.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000115875	ENSG00000115875		"Zinc fingers, CCHC domain containing", "Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10789	protein-coding gene	gene with protein product	"SR splicing factor 7"	600572	"splicing factor, arginine/serine-rich 7 (35kD)", "splicing factor, arginine/serine-rich 7, 35kDa"	SFRS7		8013463, 20516191	Standard	NM_001031684		Approved	9G8, ZCRB2, HSSG1, AAG3, RBM37, ZCCHC20	uc002rqz.3	Q16629	OTTHUMG00000102076	ENST00000313117.6:c.94A>G	chr2.hg19:g.38977271T>C	ENSP00000325905:p.Ser32Gly		B4DLU6|G5E9M3|Q564D3	Missense_Mutation	SNP	ENST00000313117.6	hg19	CCDS33183.1	.	.	.	.	.	.	.	.	.	.	T	6.752	0.507676	0.12883	.	.	ENSG00000115875	ENST00000313117;ENST00000446327;ENST00000409276	T;T;T	0.17854	2.25;2.25;2.25	6.07	6.07	0.98685	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.10937	0.0267	N	0.05158	-0.105	0.80722	D	1	B;B	0.14438	0.008;0.01	B;B	0.20184	0.017;0.028	T	0.19745	-1.0296	10	0.36615	T	0.2	.	16.6407	0.85098	0.0:0.0:0.0:1.0	.	32;32	G5E9M3;Q16629	.;SRSF7_HUMAN	G	32	ENSP00000325905:S32G;ENSP00000402264:S32G;ENSP00000386806:S32G	ENSP00000325905:S32G	S	-	1	0	SRSF7	38830775	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.754000	0.47532	2.326000	0.78906	0.533000	0.62120	AGT		0.428	SRSF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219889.2	NM_001031684		C	38977271	T	C	38977271	3	2	667	1	0	0	0	0	1	0	0	0	14188	1580	55	3	650	3	SFRS7	2	38977271	Missense_Mutation	SNP	T	TCGA-GL-A9DD-01A-11D-A36X-10	31941293	38977271	204222102	11	36458											
SLC8A1	6546	hgsc.bcm.edu	37	2	40657412	40657412	+	Silent	SNP	G	G	A			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr2:40657412G>A	ENST00000403092.1	-	2	42	c.9C>T	c.(7-9)aaC>aaT	p.N3N	SLC8A1_ENST00000402441.1_Silent_p.N3N|SLC8A1_ENST00000405269.1_Silent_p.N3N|SLC8A1_ENST00000542024.1_Silent_p.N3N|SLC8A1_ENST00000406785.2_Silent_p.N3N|SLC8A1_ENST00000332839.4_Silent_p.N3N|SLC8A1_ENST00000406391.2_Silent_p.N3N|SLC8A1_ENST00000405901.3_Silent_p.N3N|SLC8A1_ENST00000542756.1_Silent_p.N3N|SLC8A1_ENST00000408028.2_Silent_p.N3N			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	3					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)	ATCGCCGCATGTTGTACATGA	0.418																																																0													60	56	58					2																	40657412		2203	4300	6503	SO:0001819	synonymous_variant	6546				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.9C>T	chr2.hg19:g.40657412G>A			A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Silent	SNP	ENST00000403092.1	hg19	CCDS1806.1																																																																																				0.418	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		A	40657412	G	A	40657412	2	1	667	1	0	0	0	0	0	0	0	1	14712	1368	48	2		2	SLC8A1	2	40657412	Silent	SNP	G	TCGA-GL-A9DD-01A-11D-A36X-10	1680141	40657412	202541961	12	36459											
THNSL2	55258	hgsc.bcm.edu	37	2	88474889	88474889	+	Silent	SNP	G	G	A			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr2:88474889G>A	ENST00000324166.5	+	3	2231	c.540G>A	c.(538-540)acG>acA	p.T180T	THNSL2_ENST00000402102.1_Silent_p.T180T|THNSL2_ENST00000343544.4_Silent_p.T180T|THNSL2_ENST00000449349.1_Silent_p.T148T|THNSL2_ENST00000358591.2_Silent_p.T180T|THNSL2_ENST00000496844.1_3'UTR|THNSL2_ENST00000377254.3_Silent_p.T180T	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	180					2-oxobutyrate biosynthetic process (GO:0046360)|dephosphorylation (GO:0016311)|serine family amino acid catabolic process (GO:0009071)	extracellular space (GO:0005615)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|serine binding (GO:0070905)			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						AGATGACAACGGTGCTGAAGC	0.517																																																0													154	112	126					2																	88474889		2203	4300	6503	SO:0001819	synonymous_variant	55258				CCDS2002.2, CCDS58718.1, CCDS74539.1	2p11.2	2007-06-20			ENSG00000144115	ENSG00000144115			25602	protein-coding gene	gene with protein product		611261				17034760	Standard	NM_018271		Approved	FLJ10916	uc021vkr.1	Q86YJ6	OTTHUMG00000130314	ENST00000324166.5:c.540G>A	chr2.hg19:g.88474889G>A			B3KTB1|B5MDX8|B7WPF8|D9ZZB8|Q6P2M7|Q6PI27|Q9NV54	Silent	SNP	ENST00000324166.5	hg19	CCDS2002.2																																																																																				0.517	THNSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252662.1	NM_018271		A	88474889	G	A	88474889	2	1	667	1	0	0	0	0	0	0	0	1	15868	1103	39	1		1	THNSL2	2	88474889	Silent	SNP	G	TCGA-GL-A9DD-01A-11D-A36X-10	47817477	88474889	154724484	13	36460											
AFF3	3899	hgsc.bcm.edu	37	2	100266104	100266104	+	Missense_Mutation	SNP	G	G	C			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr2:100266104G>C	ENST00000409236.2	-	11	1280	c.1168C>G	c.(1168-1170)Cgc>Ggc	p.R390G	AFF3_ENST00000409579.1_Missense_Mutation_p.R415G|AFF3_ENST00000356421.2_Missense_Mutation_p.R415G|AFF3_ENST00000317233.4_Missense_Mutation_p.R390G			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	390					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.R415C(2)		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						GAGAGAGCGCGGAGAGCCGTT	0.363																																																2	Substitution - Missense(2)	endometrium(1)|skin(1)											87	101	96					2																	100266104		2203	4300	6503	SO:0001583	missense	3899			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.1168C>G	chr2.hg19:g.100266104G>C	ENSP00000387207:p.Arg390Gly		B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	hg19	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.585306	0.46110	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49	6.08	6.08	0.98989	.	0.160493	0.29594	N	0.011704	T	0.70219	0.3199	L	0.36672	1.1	0.40959	D	0.984609	P;P;P	0.44946	0.846;0.549;0.493	P;B;B	0.48304	0.573;0.282;0.119	T	0.65948	-0.6044	10	0.27785	T	0.31	.	18.844	0.92196	0.0:0.0:1.0:0.0	.	543;390;415	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	G	390;415;415;390;390;543;415	ENSP00000317421:R390G;ENSP00000348793:R415G;ENSP00000386834:R415G;ENSP00000387207:R390G	ENSP00000317421:R390G	R	-	1	0	AFF3	99632536	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	4.444000	0.60001	2.894000	0.99253	0.655000	0.94253	CGC		0.363	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		C	100266104	G	C	100266104	3	2	667	1	0	0	0	0	1	0	0	0	358	1116	39	4	2564	4	AFF3	2	100266104	Missense_Mutation	SNP	G	TCGA-GL-A9DD-01A-11D-A36X-10	11791215	100266104	142933269	14	36461											
CCDC115	84317	hgsc.bcm.edu	37	2	131096793	131096793	+	Missense_Mutation	SNP	G	G	T			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr2:131096793G>T	ENST00000259229.2	-	5	666	c.443C>A	c.(442-444)gCc>gAc	p.A148D	CCDC115_ENST00000437688.2_3'UTR|CCDC115_ENST00000409127.1_Missense_Mutation_p.A143D	NM_032357.2	NP_115733.2	Q96NT0	CC115_HUMAN	coiled-coil domain containing 115	148						endosome (GO:0005768)|lysosome (GO:0005764)|membrane (GO:0016020)				central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	7	Colorectal(110;0.1)					TATGTCTGCGGCCAGCTGCAG	0.577																																																0													44	42	43					2																	131096793		2203	4300	6503	SO:0001583	missense	84317			AK054693	CCDS2159.1	2q21.1	2010-12-24			ENSG00000136710	ENSG00000136710			28178	protein-coding gene	gene with protein product		613734				21118521	Standard	XM_005263825		Approved	MGC12981, FLJ30131, ccp1	uc002tqy.1	Q96NT0	OTTHUMG00000131631	ENST00000259229.2:c.443C>A	chr2.hg19:g.131096793G>T	ENSP00000259229:p.Ala148Asp		B4DJ47|Q9BR88	Missense_Mutation	SNP	ENST00000259229.2	hg19	CCDS2159.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.937236	0.73557	.	.	ENSG00000136710	ENST00000259229;ENST00000409127	D;D	0.96802	-4.13;-4.13	4.0	4.0	0.46444	.	0.067301	0.64402	D	0.000010	D	0.97595	0.9212	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.97354	0.9965	10	0.66056	D	0.02	.	11.8974	0.52663	0.0:0.0:1.0:0.0	.	148;143	Q96NT0;B8ZZ99	CC115_HUMAN;.	D	148;143	ENSP00000259229:A148D;ENSP00000387301:A143D	ENSP00000259229:A148D	A	-	2	0	CCDC115	130813263	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	3.833000	0.55790	2.520000	0.84964	0.591000	0.81541	GCC		0.577	CCDC115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254524.2	NM_032357		T	131096793	G	T	131096793	3	4	667	1	0	0	0	0	1	0	0	0	2754	1203	42	4	103	4	CCDC115	2	131096793	Missense_Mutation	SNP	G	TCGA-GL-A9DD-01A-11D-A36X-10	30830689	131096793	112102580	15	36462											
LRP1B	53353	hgsc.bcm.edu	37	2	141641491	141641491	+	Missense_Mutation	SNP	T	T	A			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr2:141641491T>A	ENST00000389484.3	-	25	5035	c.4064A>T	c.(4063-4065)aAt>aTt	p.N1355I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1355					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)		TTGGTCCAGATTGCTGTCTAT	0.512										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)											0													184	175	178					2																	141641491		2203	4300	6503	SO:0001583	missense	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.4064A>T	chr2.hg19:g.141641491T>A	ENSP00000374135:p.Asn1355Ile		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	hg19	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.859686	0.91433	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.84298	-1.83;-1.83	5.64	5.64	0.86602	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.89522	0.6739	L	0.45051	1.395	0.80722	D	1	D;D	0.89917	0.989;1.0	D;D	0.91635	0.965;0.999	D	0.89616	0.3845	10	0.49607	T	0.09	.	16.1404	0.81517	0.0:0.0:0.0:1.0	.	538;1355	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	I	1355;1293;500	ENSP00000374135:N1355I;ENSP00000413239:N500I	ENSP00000374135:N1355I	N	-	2	0	LRP1B	141357961	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.926000	0.87569	2.261000	0.74972	0.533000	0.62120	AAT		0.512	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		A	141641491	T	A	141641491	3	1	667	1	0	0	0	0	1	0	0	0	8957	1493	52	5	10003	5	LRP1B	2	141641491	Missense_Mutation	SNP	T	TCGA-GL-A9DD-01A-11D-A36X-10	10544698	141641491	101557882	16	36463											
COL5A2	1290	hgsc.bcm.edu	37	2	189916160	189916160	+	Silent	SNP	T	T	A			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr2:189916160T>A	ENST00000374866.3	-	42	3091	c.2817A>T	c.(2815-2817)ggA>ggT	p.G939G		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	939					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)			GACCTGGAGGTCCCTCCTTCC	0.612																																																0													48	50	49					2																	189916160		2203	4300	6503	SO:0001819	synonymous_variant	1290			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.2817A>T	chr2.hg19:g.189916160T>A			P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Silent	SNP	ENST00000374866.3	hg19	CCDS33350.1																																																																																				0.612	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		A	189916160	T	A	189916160	2	1	667	1	0	0	0	0	0	0	0	1	3699	1654	58	5		5	COL5A2	2	189916160	Silent	SNP	T	TCGA-GL-A9DD-01A-11D-A36X-10	48274669	189916160	53283213	17	36464											
DNAH7	56171	hgsc.bcm.edu	37	2	196915964	196915964	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr2:196915964C>T	ENST00000312428.6	-	3	188	c.88G>A	c.(88-90)Gcc>Acc	p.A30T	DNAH7_ENST00000410072.1_Missense_Mutation_p.A30T	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	30	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						TCTTTGCTGGCTAATTTCTCC	0.328																																																0													167	163	164					2																	196915964		1817	4070	5887	SO:0001583	missense	56171			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.88G>A	chr2.hg19:g.196915964C>T	ENSP00000311273:p.Ala30Thr		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	hg19	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	2.570	-0.299741	0.05532	.	.	ENSG00000118997	ENST00000312428;ENST00000410072;ENST00000312446;ENST00000427816	T;T	0.21734	1.99;2.89	4.13	-2.63	0.06133	.	1.029540	0.07754	N	0.949060	T	0.07954	0.0199	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39623	-0.9605	10	0.09843	T	0.71	.	5.1125	0.14817	0.5731:0.2462:0.0:0.1807	.	30	Q8WXX0	DYH7_HUMAN	T	30;30;30;5	ENSP00000311273:A30T;ENSP00000386260:A30T	ENSP00000311273:A30T	A	-	1	0	DNAH7	196624209	0.000000	0.05858	0.002000	0.10522	0.009000	0.06853	-3.248000	0.00541	-0.544000	0.06232	-0.314000	0.08810	GCC		0.328	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		T	196915964	C	T	196915964	3	4	667	1	0	0	0	0	1	0	0	0	4608	797	28	2	12238	2	DNAH7	2	196915964	Missense_Mutation	SNP	C	TCGA-GL-A9DD-01A-11D-A36X-10	6999804	196915964	46283409	18	36465											
PARD3B	117583	hgsc.bcm.edu	37	2	206110541	206110541	+	Missense_Mutation	SNP	A	A	T			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr2:206110541A>T	ENST00000406610.2	+	16	2387	c.2180A>T	c.(2179-2181)aAa>aTa	p.K727I	PARD3B_ENST00000351153.1_Missense_Mutation_p.K727I|PARD3B_ENST00000462231.1_Missense_Mutation_p.K727I|PARD3B_ENST00000358768.2_Missense_Mutation_p.K665I|PARD3B_ENST00000349953.3_Missense_Mutation_p.K727I	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	727					cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		GCTGGACAAAAATCGGGTAAG	0.403																																																0													155	147	149					2																	206110541		1830	4086	5916	SO:0001583	missense	117583			AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19", "par-3 partitioning defective 3 homolog B (C. elegans)"	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.2180A>T	chr2.hg19:g.206110541A>T	ENSP00000385848:p.Lys727Ile		E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Missense_Mutation	SNP	ENST00000406610.2	hg19		.	.	.	.	.	.	.	.	.	.	A	16.30	3.083825	0.55861	.	.	ENSG00000116117	ENST00000406610;ENST00000358768;ENST00000351153;ENST00000349953	T;T;T;T	0.30981	1.63;1.63;1.51;1.63	5.85	1.19	0.21007	.	0.449872	0.21999	N	0.066026	T	0.29588	0.0738	L	0.29908	0.895	0.23376	N	0.99781	P;P;P;P;P	0.47604	0.898;0.836;0.604;0.579;0.828	P;B;P;B;P	0.51355	0.667;0.368;0.52;0.43;0.555	T	0.09840	-1.0656	10	0.72032	D	0.01	.	9.4325	0.38620	0.5621:0.0:0.4379:0.0	.	727;727;727;665;727	Q8TEW8-3;Q8TEW8;E9PE87;Q8TEW8-2;Q8TEW8-5	.;PAR3L_HUMAN;.;.;.	I	727;665;727;727	ENSP00000385848:K727I;ENSP00000351618:K665I;ENSP00000317261:K727I;ENSP00000340280:K727I	ENSP00000340280:K727I	K	+	2	0	PARD3B	205818786	0.977000	0.34250	0.991000	0.47740	0.724000	0.41520	0.829000	0.27449	0.532000	0.28657	0.533000	0.62120	AAA		0.403	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177		T	206110541	A	T	206110541	3	4	667	1	0	0	0	0	1	0	0	0	11446	14	1	5	2242	5	PARD3B	2	206110541	Missense_Mutation	SNP	A	TCGA-GL-A9DD-01A-11D-A36X-10	9194577	206110541	37088832	19	36466											
ACADL	33	hgsc.bcm.edu	37	2	211057576	211057576	+	Missense_Mutation	SNP	A	A	G			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr2:211057576A>G	ENST00000233710.3	-	10	1378	c.1151T>C	c.(1150-1152)gTa>gCa	p.V384A	AC006994.2_ENST00000412065.1_RNA	NM_001608.3	NP_001599.1	P28330	ACADL_HUMAN	acyl-CoA dehydrogenase, long chain	384					carnitine catabolic process (GO:0042413)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid catabolic process (GO:0044242)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|long-chain fatty acid catabolic process (GO:0042758)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of fatty acid oxidation (GO:0046322)|oxidation-reduction process (GO:0055114)|protein homotetramerization (GO:0051289)|regulation of cholesterol metabolic process (GO:0090181)|small molecule metabolic process (GO:0044281)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|palmitoyl-CoA oxidase activity (GO:0016401)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		ATGGAGCTGTACACAGTCGTA	0.373																																																0													96	87	90					2																	211057576		2203	4300	6503	SO:0001583	missense	33			M74096	CCDS2389.1	2q34	2012-07-13	2010-04-30		ENSG00000115361	ENSG00000115361	1.3.99.13		88	protein-coding gene	gene with protein product		609576	"acyl-Coenzyme A dehydrogenase, long chain"			1774065	Standard	NM_001608		Approved	LCAD, ACAD4	uc002vdz.4	P28330	OTTHUMG00000132989	ENST00000233710.3:c.1151T>C	chr2.hg19:g.211057576A>G	ENSP00000233710:p.Val384Ala		B2R8T3|Q8IUN8	Missense_Mutation	SNP	ENST00000233710.3	hg19	CCDS2389.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.048038	0.75846	.	.	ENSG00000115361	ENST00000233710	D	0.96522	-4.04	6.03	6.03	0.97812	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.189851	0.46442	D	0.000297	D	0.96457	0.8844	M	0.83774	2.66	0.52099	D	0.999949	B	0.20368	0.044	B	0.28305	0.088	D	0.94543	0.7747	10	0.87932	D	0	.	16.2316	0.82347	1.0:0.0:0.0:0.0	.	384	P28330	ACADL_HUMAN	A	384	ENSP00000233710:V384A	ENSP00000233710:V384A	V	-	2	0	ACADL	210765821	1.000000	0.71417	0.627000	0.29227	0.960000	0.62799	6.551000	0.73909	2.308000	0.77769	0.533000	0.62120	GTA		0.373	ACADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256561.2	NM_001608		G	211057576	A	G	211057576	3	3	667	1	0	0	0	0	1	0	0	0	112	391	14	3	149	3	ACADL	2	211057576	Missense_Mutation	SNP	A	TCGA-GL-A9DD-01A-11D-A36X-10	4947035	211057576	32141797	20	36467											
ARMC9	80210	hgsc.bcm.edu	37	2	232081381	232081381	+	Missense_Mutation	SNP	T	T	C			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr2:232081381T>C	ENST00000349938.4	+	5	573	c.379T>C	c.(379-381)Tac>Cac	p.Y127H	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	127						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)		AAAGATTTCCTACTTCAAAAC	0.483																																																0													185	169	174					2																	232081381		2203	4300	6503	SO:0001583	missense	80210			BC004514	CCDS2484.1, CCDS74666.1	2q37.1	2013-02-14			ENSG00000135931	ENSG00000135931		"Armadillo repeat containing"	20730	protein-coding gene	gene with protein product						11347906	Standard	NM_025139		Approved	FLJ12584, KIAA1868, ARM, KU-MEL-1	uc031rrs.1	Q7Z3E5	OTTHUMG00000133229	ENST00000349938.4:c.379T>C	chr2.hg19:g.232081381T>C	ENSP00000258417:p.Tyr127His		Q53TI3|Q6P162|Q7L594|Q86WG2|Q96JF9|Q9H9R8	Missense_Mutation	SNP	ENST00000349938.4	hg19	CCDS2484.1	.	.	.	.	.	.	.	.	.	.	T	7.414	0.635408	0.14322	.	.	ENSG00000135931	ENST00000349938;ENST00000359743;ENST00000440107	T;T	0.18174	2.23;2.23	5.5	4.31	0.51392	.	0.480617	0.21657	N	0.071085	T	0.08268	0.0206	N	0.11560	0.145	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.37103	-0.9720	10	0.15952	T	0.53	-6.7602	8.7057	0.34354	0.0:0.2153:0.0:0.7847	.	127	Q7Z3E5	ARMC9_HUMAN	H	127	ENSP00000258417:Y127H;ENSP00000387391:Y127H	ENSP00000258417:Y127H	Y	+	1	0	ARMC9	231789625	0.006000	0.16342	0.432000	0.26747	0.931000	0.56810	1.657000	0.37366	0.880000	0.35969	0.533000	0.62120	TAC		0.483	ARMC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256966.3	NM_025139		C	232081381	T	C	232081381	3	2	667	1	0	0	0	0	1	0	0	0	958	1522	53	3	393	3	ARMC9	2	232081381	Missense_Mutation	SNP	T	TCGA-GL-A9DD-01A-11D-A36X-10	21023805	232081381	11117992	21	36468											
ZNF619	285267	hgsc.bcm.edu	37	3	40523745	40523745	+	Intron	SNP	T	T	A			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr3:40523745T>A	ENST00000314686.5	+	3	485				ZNF619_ENST00000447116.2_Missense_Mutation_p.L68Q|ZNF619_ENST00000521353.1_Missense_Mutation_p.L68Q|ZNF619_ENST00000520737.1_Intron|ZNF619_ENST00000432264.2_Intron|ZNF619_ENST00000522736.1_Intron|ZNF619_ENST00000456778.1_Intron|ZNF619_ENST00000429348.2_Intron			Q8N2I2	ZN619_HUMAN	zinc finger protein 619						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GGCTTTCCTCTGGATACAGAG	0.502																																																0													72	70	71					3																	40523745		692	1591	2283	SO:0001627	intron_variant	285267			AK075245	CCDS46801.1, CCDS46802.1, CCDS46803.1	3p21.33	2013-01-08			ENSG00000177873	ENSG00000177873		"Zinc fingers, C2H2-type", "-"	26910	protein-coding gene	gene with protein product							Standard	NM_001145083		Approved	FLJ90764	uc011azb.2	Q8N2I2	OTTHUMG00000131391	ENST00000314686.5:c.80+238T>A	chr3.hg19:g.40523745T>A			B4E271|C9JRN5|D4PHA2|E9PCD9	Missense_Mutation	SNP	ENST00000314686.5	hg19		.	.	.	.	.	.	.	.	.	.	T	12.37	1.917530	0.33815	.	.	ENSG00000177873	ENST00000447116;ENST00000521353	T;T	0.07114	3.22;3.22	3.52	3.52	0.40303	.	.	.	.	.	T	0.11196	0.0273	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.32375	-0.9909	9	0.39692	T	0.17	.	10.3183	0.43751	0.0:0.0:0.0:1.0	.	68	E9PCD9	.	Q	68	ENSP00000411132:L68Q;ENSP00000430705:L68Q	ENSP00000411132:L68Q	L	+	2	0	ZNF619	40498749	0.000000	0.05858	0.065000	0.19835	0.018000	0.09664	-0.630000	0.05502	1.366000	0.46076	0.460000	0.39030	CTG		0.502	ZNF619-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000254180.2	NM_173656		A	40523745	T	A	40523745	1	1	667	0	1	0	0	0	0	0	0	0	18048	1580	55	5		5	ZNF619	3	40523745	Intron	SNP	T	TCGA-GL-A9DD-01A-11D-A36X-10		40523745	157498685	22	36469											
ROBO1	6091	hgsc.bcm.edu	37	3	78710202	78710202	+	Silent	SNP	C	C	T	rs536774102		TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr3:78710202C>T	ENST00000464233.1	-	16	2411	c.2298G>A	c.(2296-2298)aaG>aaA	p.K766K	ROBO1_ENST00000467549.1_Silent_p.K730K|ROBO1_ENST00000436010.2_Silent_p.K727K|ROBO1_ENST00000495273.1_Silent_p.K730K	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	766	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TTTTGGCAAACTTGATTTCAC	0.343																																																0													95	89	91					3																	78710202		1834	4091	5925	SO:0001819	synonymous_variant	6091			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10249	protein-coding gene	gene with protein product		602430	"roundabout (axon guidance receptor, Drosophila) homolog 1"			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.2298G>A	chr3.hg19:g.78710202C>T			B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Silent	SNP	ENST00000464233.1	hg19	CCDS54611.1																																																																																				0.343	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		T	78710202	C	T	78710202	2	4	667	1	0	0	0	0	0	0	0	1	13519	564	20	2		2	ROBO1	3	78710202	Silent	SNP	C	TCGA-GL-A9DD-01A-11D-A36X-10	38186457	78710202	119312228	23	36470											
C3orf22	152065	hgsc.bcm.edu	37	3	126270916	126270916	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr3:126270916delC	ENST00000318225.2	-	3	517	c.139delG	c.(139-141)gtcfs	p.V47fs		NM_152533.1	NP_689746.1	Q8N5N4	CC022_HUMAN	chromosome 3 open reading frame 22	47										large_intestine(1)|lung(3)|ovary(2)|prostate(1)	7				GBM - Glioblastoma multiforme(114;0.147)		TCGTTTGTGACCTCCCAGGGC	0.617																																																0													94	83	87					3																	126270916		2203	4300	6503	SO:0001589	frameshift_variant	152065				CCDS3040.1	3q21.3	2011-09-30			ENSG00000180697	ENSG00000180697			28534	protein-coding gene	gene with protein product						12477932	Standard	NM_152533		Approved	MGC34728	uc003ejb.3	Q8N5N4	OTTHUMG00000162731	ENST00000318225.2:c.139delG	chr3.hg19:g.126270916delC	ENSP00000316644:p.Val47fs		B3KUS9	Frame_Shift_Del	DEL	ENST00000318225.2	hg19	CCDS3040.1																																																																																				0.617	C3orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370231.2	NM_152533		-	126270916	C	-	126270916	7	5	667	1	0	1	0	1	0	0	0	0	2217	507	18	0	294	0	C3orf22	3	126270916	Frame_Shift_Del	DEL	C	TCGA-GL-A9DD-01A-11D-A36X-10	47560714	126270916	71751514	24	36471											
NMD3	51068	hgsc.bcm.edu	37	3	160967299	160967299	+	Silent	SNP	T	T	C			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr3:160967299T>C	ENST00000460469.1	+	13	1716	c.1261T>C	c.(1261-1263)Ttg>Ctg	p.L421L	NMD3_ENST00000472947.1_Silent_p.L421L|NMD3_ENST00000351193.2_Silent_p.L421L			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	421					protein transport (GO:0015031)|ribosomal large subunit export from nucleus (GO:0000055)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|ribosomal large subunit binding (GO:0043023)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			AAACTGGAAATTGAAAGAGCT	0.353																																																0													76	75	75					3																	160967299		2203	4300	6503	SO:0001819	synonymous_variant	51068			BC013317	CCDS3194.1	3q26.1	2013-08-06	2013-08-06		ENSG00000169251	ENSG00000169251			24250	protein-coding gene	gene with protein product		611021	"NMD3 homolog (S. cerevisiae)"			10810093, 23782956, 12773398	Standard	NM_015938		Approved	CGI-07	uc003feb.1	Q96D46	OTTHUMG00000159063	ENST00000460469.1:c.1261T>C	chr3.hg19:g.160967299T>C			D3DNM7|Q9Y2Z6	Silent	SNP	ENST00000460469.1	hg19	CCDS3194.1																																																																																				0.353	NMD3-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353114.1	NM_015938		C	160967299	T	C	160967299	2	2	667	1	0	0	0	0	0	0	0	1	10490	1490	52	3		3	NMD3	3	160967299	Silent	SNP	T	TCGA-GL-A9DD-01A-11D-A36X-10	34696383	160967299	37055131	25	36472											
HTR3D	200909	hgsc.bcm.edu	37	3	183756708	183756709	+	Frame_Shift_Ins	INS	-	-	T			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr3:183756708_183756709insT	ENST00000382489.3	+	8	1310_1311	c.1310_1311insT	c.(1309-1314)tacctgfs	p.L438fs	HTR3D_ENST00000428798.2_Frame_Shift_Ins_p.L388fs|HTR3D_ENST00000453435.1_Frame_Shift_Ins_p.L217fs|HTR3D_ENST00000334128.2_Frame_Shift_Ins_p.L263fs	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic	438					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Ergoloid mesylate(DB01049)	TTCCGCCTCTACCTGCTCTTCA	0.589																																																0																																										SO:0001589	frameshift_variant	200909			AY159812	CCDS3249.1, CCDS46966.1, CCDS54685.1	3q27	2012-05-22	2012-02-03		ENSG00000186090	ENSG00000186090		"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	24004	protein-coding gene	gene with protein product		610122	"5-hydroxytryptamine (serotonin) receptor 3 family member D"			12801637	Standard	NM_001145143		Approved		uc011bqv.2	Q70Z44	OTTHUMG00000156858	Exception_encountered	chr3.hg19:g.183756708_183756709insT	ENSP00000371929:p.Leu438fs		C9J2I6|J3QT78|Q495N5|Q495N6|Q7Z6B3	Frame_Shift_Ins	INS	ENST00000382489.3	hg19	CCDS54685.1																																																																																				0.589	HTR3D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346289.1	NM_182537		T	183756709	-	T	183756708	7	5	667	1	0	1	1	0	0	0	0	0	7449	391	14	0	1510	0	HTR3D	3	183756708	Frame_Shift_Ins	INS	-	TCGA-GL-A9DD-01A-11D-A36X-10	22789409	183756708	14265722	26	36473											
ALG3	10195	hgsc.bcm.edu	37	3	183963295	183963295	+	Silent	SNP	G	G	C			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr3:183963295G>C	ENST00000397676.3	-	3	435	c.405C>G	c.(403-405)acC>acG	p.T135T	ALG3_ENST00000455059.1_Silent_p.T95T|ALG3_ENST00000463495.1_5'Flank|ALG3_ENST00000445626.2_Silent_p.T87T|EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000418734.2_Silent_p.T79T	NM_005787.5	NP_005778.1	Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase	135					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-1,3-mannosyltransferase activity (GO:0000033)|dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase activity (GO:0052925)			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CAAGCAGCAAGGTAGCCAGGT	0.567																																																0													62	64	64					3																	183963295		2121	4233	6354	SO:0001819	synonymous_variant	10195			BC002839	CCDS46967.1, CCDS46968.1	3q27.3	2013-02-26	2013-02-26		ENSG00000214160	ENSG00000214160	2.4.1.258	"Dolichyl D-mannosyl phosphate dependent mannosyltransferases"	23056	protein-coding gene	gene with protein product	"carbohydrate deficient glycoprotein syndrome type IV", "dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase", "dol-P-Man dependent alpha-1,3- mannosyltransferase"	608750	"asparagine-linked glycosylation 3 homolog (yeast, alpha-1,3-mannosyltransferase)", "asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae)"			1058125	Standard	NM_005787		Approved	NOT56L, Not56, CDGS4, D16Ertd36e	uc003fne.2	Q92685	OTTHUMG00000156823	ENST00000397676.3:c.405C>G	chr3.hg19:g.183963295G>C			A8JZZ6|Q9BT71	Silent	SNP	ENST00000397676.3	hg19	CCDS46968.1																																																																																				0.567	ALG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346033.1	NM_005787		C	183963295	G	C	183963295	2	2	667	1	0	0	0	0	0	0	0	1	520	987	35	4		4	ALG3	3	183963295	Silent	SNP	G	TCGA-GL-A9DD-01A-11D-A36X-10	206587	183963295	14059135	27	36474											
SENP5	205564	hgsc.bcm.edu	37	3	196613001	196613001	+	Nonsense_Mutation	SNP	A	A	T			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr3:196613001A>T	ENST00000323460.5	+	2	1198	c.949A>T	c.(949-951)Aag>Tag	p.K317*	SENP5_ENST00000419026.1_Intron|SENP5_ENST00000445299.2_Nonsense_Mutation_p.K317*	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	317					cell cycle (GO:0007049)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		TGCTGTGGTGAAGGGGACGAA	0.512																																					Ovarian(47;891 1095 11174 13858 51271)											0													107	94	98					3																	196613001		2203	4300	6503	SO:0001587	stop_gained	205564			BC030705	CCDS3322.1	3q29	2005-08-17	2005-08-17		ENSG00000119231	ENSG00000119231			28407	protein-coding gene	gene with protein product		612845	"SUMO1/sentrin specific protease 5"			12477932	Standard	NM_152699		Approved	MGC27076	uc003fwz.4	Q96HI0	OTTHUMG00000155527	ENST00000323460.5:c.949A>T	chr3.hg19:g.196613001A>T	ENSP00000327197:p.Lys317*		B4DY82|Q96SA5	Nonsense_Mutation	SNP	ENST00000323460.5	hg19	CCDS3322.1	.	.	.	.	.	.	.	.	.	.	A	38	6.956467	0.97964	.	.	ENSG00000119231	ENST00000323460;ENST00000445299	.	.	.	5.37	4.22	0.49857	.	0.349524	0.27429	N	0.019408	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.1768	9.6073	0.39641	0.9168:0.0:0.0832:0.0	.	.	.	.	X	317	.	ENSP00000327197:K317X	K	+	1	0	SENP5	198097398	0.999000	0.42202	0.999000	0.59377	0.954000	0.61252	3.305000	0.51873	0.992000	0.38840	0.533000	0.62120	AAG		0.512	SENP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340524.1	NM_152699		T	196613001	A	T	196613001	4	4	667	1	0	0	0	0	0	1	0	0	14055	247	9	5	951	5	SENP5	3	196613001	Nonsense_Mutation	SNP	A	TCGA-GL-A9DD-01A-11D-A36X-10	12649706	196613001	1409429	28	36475											
SPON2	10417	hgsc.bcm.edu	37	4	1165650	1165650	+	Silent	SNP	A	A	T			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr4:1165650A>T	ENST00000290902.5	-	2	542	c.210T>A	c.(208-210)tcT>tcA	p.S70S	SPON2_ENST00000431380.1_Silent_p.S70S	NM_012445.3	NP_036577	Q9BUD6	SPON2_HUMAN	spondin 2, extracellular matrix protein	70	Spondin. {ECO:0000255|PROSITE- ProRule:PRU00364}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)		CCAGCAGCGAAGACCACTGCG	0.687																																																0													47	65	59					4																	1165650		2192	4292	6484	SO:0001819	synonymous_variant	10417			AB027466	CCDS3347.1	4p16.3	2008-07-29			ENSG00000159674	ENSG00000159674			11253	protein-coding gene	gene with protein product	"Mindin", "M-spondin"	605918				10512675, 15094111	Standard	NM_012445		Approved	DIL1	uc003gco.4	Q9BUD6	OTTHUMG00000089002	ENST00000290902.5:c.210T>A	chr4.hg19:g.1165650A>T			D3DVN9|Q4W5N4|Q9ULW1	Silent	SNP	ENST00000290902.5	hg19	CCDS3347.1																																																																																				0.687	SPON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202080.2			T	1165650	A	T	1165650	2	4	667	1	0	0	0	0	0	0	0	1	15088	59	3	5		5	SPON2	4	1165650	Silent	SNP	A	TCGA-GL-A9DD-01A-11D-A36X-10		1165650	189988626	29	36476											
MAN2B2	23324	hgsc.bcm.edu	37	4	6576972	6576972	+	Missense_Mutation	SNP	C	C	A			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr4:6576972C>A	ENST00000285599.3	+	1	71	c.35C>A	c.(34-36)cCg>cAg	p.P12Q	MAN2B2_ENST00000504248.1_Missense_Mutation_p.P12Q	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	12					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						CTGCTGGCACCGCTCCTGTTG	0.746																																																0													4	5	5					4																	6576972		1999	3945	5944	SO:0001583	missense	23324			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.35C>A	chr4.hg19:g.6576972C>A	ENSP00000285599:p.Pro12Gln		Q66MP2|Q86T67	Missense_Mutation	SNP	ENST00000285599.3	hg19	CCDS33951.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	1.365|1.365	-0.587738|-0.587738	0.03799|0.03799	.|.	.|.	ENSG00000013288|ENSG00000013288	ENST00000285599;ENST00000504248|ENST00000505907	T;D|.	0.83673|.	-1.31;-1.75|.	2.46|2.46	-4.92|-4.92	0.03075|0.03075	.|.	2.051680|.	0.02792|.	N|.	0.122182|.	T|T	0.08403|0.08403	0.0209|0.0209	N|N	0.02142|0.02142	-0.665|-0.665	0.09310|0.09310	N|N	1|1	B;B;B|.	0.06786|.	0.0;0.0;0.001|.	B;B;B|.	0.06405|.	0.001;0.001;0.002|.	T|T	0.09357|0.09357	-1.0678|-1.0678	10|5	0.13108|.	T|.	0.6|.	.|.	3.8561|3.8561	0.08976|0.08976	0.3608:0.3061:0.0:0.3331|0.3608:0.3061:0.0:0.3331	.|.	12;12;12|.	E9PCD7;Q9Y2E5;Q9Y2E5-2|.	.;MA2B2_HUMAN;.|.	Q|S	12|11	ENSP00000285599:P12Q;ENSP00000423129:P12Q|.	ENSP00000285599:P12Q|.	P|R	+|+	2|1	0|0	MAN2B2|MAN2B2	6627873|6627873	0.003000|0.003000	0.15002|0.15002	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	0.090000|0.090000	0.15025|0.15025	-3.717000|-3.717000	0.00116|0.00116	-2.834000|-2.834000	0.00106|0.00106	CCG|CGC		0.746	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359106.2	NM_015274		A	6576972	C	A	6576972	3	1	667	1	0	0	0	0	1	0	0	0	9219	652	23	4	37	4	MAN2B2	4	6576972	Missense_Mutation	SNP	C	TCGA-GL-A9DD-01A-11D-A36X-10	5411322	6576972	184577304	30	36477											
TLR1	7096	hgsc.bcm.edu	37	4	38800432	38800432	+	Frame_Shift_Del	DEL	A	A	-			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr4:38800432delA	ENST00000502213.2	-	3	250	c.21delT	c.(19-21)tttfs	p.F7fs	TLR1_ENST00000308979.2_Frame_Shift_Del_p.F7fs			Q15399	TLR1_HUMAN	toll-like receptor 1	7					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						AGATAATGGCAAAATGGAAGA	0.328																																					GBM(5;216 373 40795 46382)											0													33	36	35					4																	38800432		2194	4292	6486	SO:0001589	frameshift_variant	7096			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.21delT	chr4.hg19:g.38800432delA	ENSP00000421259:p.Phe7fs		D1CS39|D1CS41|O15452|Q32MK3|Q32MK4|Q9UG90	Frame_Shift_Del	DEL	ENST00000502213.2	hg19	CCDS33973.1																																																																																				0.328	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360510.3			-	38800432	A	-	38800432	7	5	667	1	0	1	0	1	0	0	0	0	15954	127	5	0	2343	0	TLR1	4	38800432	Frame_Shift_Del	DEL	A	TCGA-GL-A9DD-01A-11D-A36X-10	32223460	38800432	152353844	31	36478											
SEC31A	22872	hgsc.bcm.edu	37	4	83748748	83748748	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr4:83748748G>T	ENST00000395310.2	-	24	3247	c.3065C>A	c.(3064-3066)tCa>tAa	p.S1022*	SEC31A_ENST00000509142.1_Nonsense_Mutation_p.S908*|SEC31A_ENST00000505472.1_Nonsense_Mutation_p.S1053*|SEC31A_ENST00000432794.1_Nonsense_Mutation_p.S1035*|SEC31A_ENST00000505984.1_Nonsense_Mutation_p.S968*|SEC31A_ENST00000348405.4_Nonsense_Mutation_p.S983*|SEC31A_ENST00000326950.5_Nonsense_Mutation_p.S983*|SEC31A_ENST00000355196.2_Nonsense_Mutation_p.S1022*|SEC31A_ENST00000443462.2_Nonsense_Mutation_p.S1002*|SEC31A_ENST00000513858.1_Nonsense_Mutation_p.S869*|SEC31A_ENST00000311785.7_Nonsense_Mutation_p.S908*|SEC31A_ENST00000500777.2_Nonsense_Mutation_p.S869*|SEC31A_ENST00000264405.5_Nonsense_Mutation_p.S771*|SEC31A_ENST00000508502.1_Nonsense_Mutation_p.S1007*|SEC31A_ENST00000448323.1_Nonsense_Mutation_p.S1022*	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)	1022	Interaction with PDCD6.|Pro-rich.				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)				CATGATTGGTGATGTGATGGG	0.458																																																0													171	165	167					4																	83748748		2203	4300	6503	SO:0001587	stop_gained	22872			AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"WD repeat domain containing"	17052	protein-coding gene	gene with protein product		610257	"SEC31-like 1 (S. cerevisiae)", "Sec31 homolog A (S. cerevisiae)"	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.3065C>A	chr4.hg19:g.83748748G>T	ENSP00000378721:p.Ser1022*		B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Nonsense_Mutation	SNP	ENST00000395310.2	hg19	CCDS3596.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.07|15.07	2.725353|2.725353	0.48833|0.48833	.|.	.|.	ENSG00000138674|ENSG00000138674	ENST00000503937|ENST00000348405;ENST00000513858;ENST00000395310;ENST00000443462;ENST00000509142;ENST00000432794;ENST00000448323;ENST00000326950;ENST00000311785;ENST00000505472;ENST00000500777;ENST00000508502;ENST00000355196;ENST00000264405;ENST00000505984	.|.	.|.	.|.	5.77|5.77	4.9|4.9	0.64082|0.64082	.|.	.|0.201050	.|0.44097	.|D	.|0.000483	T|.	0.54287|.	0.1849|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.54450|.	-0.8292|.	3|.	.|0.12766	.|T	.|0.61	-2.6138|-2.6138	15.9381|15.9381	0.79734|0.79734	0.0:0.0:0.8639:0.1361|0.0:0.0:0.8639:0.1361	.|.	.|.	.|.	.|.	N|X	185|983;869;1022;1002;908;1035;1022;983;908;1053;869;1007;1022;771;968	.|.	.|ENSP00000264405:S771X	H|S	-|-	1|2	0|0	SEC31A|SEC31A	83967772|83967772	1.000000|1.000000	0.71417|0.71417	0.652000|0.652000	0.29579|0.29579	0.106000|0.106000	0.19336|0.19336	7.795000|7.795000	0.85887|0.85887	1.377000|1.377000	0.46286|0.46286	0.655000|0.655000	0.94253|0.94253	CAC|TCA		0.458	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	NM_016211		T	83748748	G	T	83748748	4	4	667	1	0	0	0	0	0	1	0	0	14004	1294	45	4	613	4	SEC31A	4	83748748	Nonsense_Mutation	SNP	G	TCGA-GL-A9DD-01A-11D-A36X-10	44948316	83748748	107405528	32	36479											
ARHGAP24	83478	hgsc.bcm.edu	37	4	86916509	86916510	+	Frame_Shift_Ins	INS	-	-	C			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr4:86916509_86916510insC	ENST00000395184.1	+	9	2168_2169	c.1702_1703insC	c.(1702-1704)tccfs	p.S568fs	ARHGAP24_ENST00000264343.4_Frame_Shift_Ins_p.S475fs|ARHGAP24_ENST00000395183.2_Frame_Shift_Ins_p.S473fs	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	568					activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of ruffle assembly (GO:1900028)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|wound healing, spreading of epidermal cells (GO:0035313)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)	Rac GTPase activator activity (GO:0030675)			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		CCCTGAGAACTCCAACTCCTGT	0.53																																																0																																										SO:0001589	frameshift_variant	83478			AK091196	CCDS3611.1, CCDS34025.1, CCDS43246.1	4q22.1	2013-01-10			ENSG00000138639	ENSG00000138639		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	25361	protein-coding gene	gene with protein product		610586				11230166, 15254788	Standard	NM_001042669		Approved	DKFZP564B1162, FLJ33877, FilGAP	uc003hpk.3	Q8N264	OTTHUMG00000130427	ENST00000395184.1:c.1704dupC	chr4.hg19:g.86916511_86916511dupC	ENSP00000378611:p.Ser568fs		Q4KMG1|Q6ZNV3|Q86TI5|Q86WE4|Q9H0T6	Frame_Shift_Ins	INS	ENST00000395184.1	hg19	CCDS34025.1																																																																																				0.53	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252815.2	NM_031305		C	86916510	-	C	86916509	7	5	667	1	0	1	1	0	0	0	0	0	873	1551	54	0	1848	0	ARHGAP24	4	86916509	Frame_Shift_Ins	INS	-	TCGA-GL-A9DD-01A-11D-A36X-10	3167761	86916509	104237767	33	36480											
USP53	54532	hgsc.bcm.edu	37	4	120190931	120190931	+	Silent	SNP	A	A	G			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr4:120190931A>G	ENST00000274030.6	+	15	2553	c.1374A>G	c.(1372-1374)ttA>ttG	p.L458L	USP53_ENST00000450251.1_Silent_p.L458L	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						AGAAAAACTTACTTTCTTCAC	0.318																																																0													98	100	99					4																	120190931		1802	4058	5860	SO:0001819	synonymous_variant	54532			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.1374A>G	chr4.hg19:g.120190931A>G				Silent	SNP	ENST00000274030.6	hg19	CCDS43265.1																																																																																				0.318	USP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364564.2	XM_052597		G	120190931	A	G	120190931	2	3	667	1	0	0	0	0	0	0	0	1	17089	388	14	3		3	USP53	4	120190931	Silent	SNP	A	TCGA-GL-A9DD-01A-11D-A36X-10	33274422	120190931	70963345	34	36481											
FAT1	2195	hgsc.bcm.edu	37	4	187629592	187629593	+	Frame_Shift_Ins	INS	-	-	A			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr4:187629592_187629593insA	ENST00000441802.2	-	2	1598_1599	c.1389_1390insT	c.(1387-1392)tttaccfs	p.T464fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	464	Cadherin 4. {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						GCTGTCTGGGTAAATTCAGGGG	0.48										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)											0																																										SO:0001589	frameshift_variant	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.1390dupT	chr4.hg19:g.187629595_187629595dupA	ENSP00000406229:p.Thr464fs			Frame_Shift_Ins	INS	ENST00000441802.2	hg19	CCDS47177.1																																																																																				0.48	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		A	187629593	-	A	187629592	7	5	667	1	0	1	1	0	0	0	0	0	5691	1638	57	0	12480	0	FAT1	4	187629592	Frame_Shift_Ins	INS	-	TCGA-GL-A9DD-01A-11D-A36X-10	67438661	187629592	3524684	35	36482											
RNASEN	29102	hgsc.bcm.edu	37	5	31526232	31526232	+	Missense_Mutation	SNP	C	C	A			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr5:31526232C>A	ENST00000511367.2	-	4	1052	c.808G>T	c.(808-810)Gac>Tac	p.D270Y	DROSHA_ENST00000513349.1_Missense_Mutation_p.D270Y|DROSHA_ENST00000504361.1_5'Flank|DROSHA_ENST00000344624.3_Missense_Mutation_p.D270Y|DROSHA_ENST00000442743.1_Missense_Mutation_p.D270Y	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	270	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						CTCCCTCGGTCATAATCAGAT	0.587																																																0													101	104	103					5																	31526232		2082	4213	6295	SO:0001583	missense	29102			AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"drosha, ribonuclease type III", "drosha, double-stranded RNA-specific endoribonuclease"	608828	"ribonuclease type III, nuclear"	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.808G>T	chr5.hg19:g.31526232C>A	ENSP00000425979:p.Asp270Tyr		E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP	ENST00000511367.2	hg19	CCDS47195.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.56|10.56	1.384535|1.384535	0.25031|0.25031	.|.	.|.	ENSG00000113360|ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075;ENST00000382188;ENST00000512302|ENST00000512076	T;T;T;T;T|.	0.51574|.	0.7;0.7;0.7;0.7;0.97|.	4.55|4.55	4.55|4.55	0.56014|0.56014	.|.	0.187574|.	0.43919|.	D|.	0.000519|.	T|.	0.49457|.	0.1558|.	N|N	0.24115|0.24115	0.695|0.695	0.58432|0.58432	D|D	0.999992|0.999992	P;B;B|.	0.48503|.	0.911;0.38;0.38|.	P;B;B|.	0.47705|.	0.555;0.125;0.125|.	T|.	0.42050|.	-0.9474|.	10|.	0.21540|.	T|.	0.41|.	-5.2075|-5.2075	12.0196|12.0196	0.53336|0.53336	0.0:0.9169:0.0:0.083|0.0:0.9169:0.0:0.083	.|.	270;270;270|.	Q9NRR4-2;E7EMP9;Q9NRR4|.	.;.;RNC_HUMAN|.	Y|L	270;270;270;270;263;263;68|99	ENSP00000425979:D270Y;ENSP00000339845:D270Y;ENSP00000409335:D270Y;ENSP00000424161:D270Y;ENSP00000428782:D68Y|.	ENSP00000265075:D263Y|.	D|X	-|-	1|2	0|2	DROSHA|DROSHA	31561989|31561989	0.998000|0.998000	0.40836|0.40836	0.449000|0.449000	0.26957|0.26957	0.080000|0.080000	0.17528|0.17528	4.622000|4.622000	0.61240|0.61240	2.348000|2.348000	0.79779|0.79779	0.650000|0.650000	0.86243|0.86243	GAC|TGA		0.587	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	NM_013235		A	31526232	C	A	31526232	3	1	667	1	0	0	0	0	1	0	0	0	13423	826	29	4	3444	4	RNASEN	5	31526232	Missense_Mutation	SNP	C	TCGA-GL-A9DD-01A-11D-A36X-10		31526232	149389028	36	36483											
WDR41	55255	hgsc.bcm.edu	37	5	76758982	76758982	+	Silent	SNP	A	A	G			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr5:76758982A>G	ENST00000296679.4	-	4	661	c.286T>C	c.(286-288)Ttg>Ctg	p.L96L	WDR41_ENST00000507029.1_Silent_p.L41L|WDR41_ENST00000414719.2_5'UTR	NM_018268.2	NP_060738.2	Q9HAD4	WDR41_HUMAN	WD repeat domain 41	96						lysosomal membrane (GO:0005765)		p.L96V(1)		NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)	14		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		CAAGATTCCAAGGAAGGAAAT	0.343																																																1	Substitution - Missense(1)	large_intestine(1)											120	122	121					5																	76758982		2203	4300	6503	SO:0001819	synonymous_variant	55255			AF115511	CCDS4038.1	5q14	2013-01-09			ENSG00000164253	ENSG00000164253		"WD repeat domain containing"	25601	protein-coding gene	gene with protein product						12477932	Standard	NM_018268		Approved	FLJ10904	uc003kff.1	Q9HAD4	OTTHUMG00000102169	ENST00000296679.4:c.286T>C	chr5.hg19:g.76758982A>G			B4DT55|Q7Z792|Q8IWG3|Q8IXA9|Q8NDA7|Q9NV62	Silent	SNP	ENST00000296679.4	hg19	CCDS4038.1																																																																																				0.343	WDR41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220014.2	NM_018268		G	76758982	A	G	76758982	2	3	667	1	0	0	0	0	0	0	0	1	17299	69	3	3		3	WDR41	5	76758982	Silent	SNP	A	TCGA-GL-A9DD-01A-11D-A36X-10	45232750	76758982	104156278	37	36484											
WDR36	134430	hgsc.bcm.edu	37	5	110448824	110448824	+	Missense_Mutation	SNP	A	A	T	rs562223310		TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr5:110448824A>T	ENST00000513710.2	+	16	1940	c.1936A>T	c.(1936-1938)Att>Ttt	p.I646F	WDR36_ENST00000506538.2_Missense_Mutation_p.I646F			Q8NI36	WDR36_HUMAN	WD repeat domain 36	646					regulation of axon extension (GO:0030516)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|rRNA processing (GO:0006364)|visual perception (GO:0007601)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		GGATTGCTCTATTAGGACTTG	0.289																																																0													150	151	150					5																	110448824		2202	4300	6502	SO:0001583	missense	134430			AF385437	CCDS4102.1	5q22.2	2013-01-09			ENSG00000134987	ENSG00000134987		"WD repeat domain containing"	30696	protein-coding gene	gene with protein product		609669	"glaucoma 1, open angle, G"	GLC1G		15590835, 15677485	Standard	NM_139281		Approved	TA-WDRP, UTP21	uc003kpd.3	Q8NI36	OTTHUMG00000128790	ENST00000513710.2:c.1936A>T	chr5.hg19:g.110448824A>T	ENSP00000424628:p.Ile646Phe		A2RUS4|Q68E02|Q8N1Q2	Missense_Mutation	SNP	ENST00000513710.2	hg19	CCDS4102.1	.	.	.	.	.	.	.	.	.	.	A	18.13	3.555751	0.65425	.	.	ENSG00000134987	ENST00000506538;ENST00000513710	T;T	0.70045	-0.45;-0.45	6.06	-9.14	0.00701	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.194328	0.56097	D	0.000029	T	0.72145	0.3424	M	0.91140	3.18	0.80722	D	1	P	0.43885	0.82	P	0.45474	0.482	T	0.81883	-0.0728	10	0.87932	D	0	-5.945	17.9341	0.89007	0.4286:0.0:0.5714:0.0	.	646	Q8NI36	WDR36_HUMAN	F	646	ENSP00000423067:I646F;ENSP00000424628:I646F	ENSP00000423067:I646F	I	+	1	0	WDR36	110476723	0.102000	0.21896	0.359000	0.25824	0.804000	0.45430	0.737000	0.26144	-1.830000	0.01199	-1.986000	0.00452	ATT		0.289	WDR36-008	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000373504.3	NM_139281		T	110448824	A	T	110448824	3	4	667	1	0	0	0	0	1	0	0	0	17295	449	16	5	1998	5	WDR36	5	110448824	Missense_Mutation	SNP	A	TCGA-GL-A9DD-01A-11D-A36X-10	33689842	110448824	70466436	38	36485											
PCDHGC3	5098	hgsc.bcm.edu	37	5	140857767	140857767	+	Missense_Mutation	SNP	T	T	G			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr5:140857767T>G	ENST00000308177.3	+	1	2188	c.2084T>G	c.(2083-2085)cTt>cGt	p.L695R	PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|RN7SL68P_ENST00000488078.2_RNA|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	695					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)			TTTTATCTACTTCTTTCTCTA	0.483											OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													159	198	185					5																	140857767		2203	4300	6503	SO:0001583	missense	5098			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.2084T>G	chr5.hg19:g.140857767T>G	ENSP00000312070:p.Leu695Arg	1659	O60622|Q08192|Q9Y5C4	Missense_Mutation	SNP	ENST00000308177.3	hg19	CCDS4261.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.433275	0.83776	.	.	ENSG00000240184	ENST00000308177	T	0.51574	0.7	5.55	5.55	0.83447	.	.	.	.	.	T	0.56171	0.1967	L	0.29908	0.895	0.32577	N	0.529007	D;D	0.76494	0.996;0.999	P;D	0.67548	0.823;0.952	T	0.66044	-0.6021	9	0.87932	D	0	.	14.0843	0.64944	0.0:0.0:0.0:1.0	.	695;695	Q9UN70;Q9UN70-2	PCDGK_HUMAN;.	R	695	ENSP00000312070:L695R	ENSP00000312070:L695R	L	+	2	0	PCDHGC3	140837951	0.992000	0.36948	1.000000	0.80357	0.989000	0.77384	4.297000	0.59061	2.326000	0.78906	0.533000	0.62120	CTT		0.483	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251808.2	NM_002588		G	140857767	T	G	140857767	3	3	667	1	0	0	0	0	1	0	0	0	11571	1609	56	5	2086	5	PCDHGC3	5	140857767	Missense_Mutation	SNP	T	TCGA-GL-A9DD-01A-11D-A36X-10	30408943	140857767	40057493	39	36486											
C5orf25	375484	hgsc.bcm.edu	37	5	175772284	175772294	+	Frame_Shift_Del	DEL	GAGAAGCAGAT	GAGAAGCAGAT	-	rs116804795		TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	GAGAAGCAGAT	GAGAAGCAGAT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr5:175772284_175772294delGAGAAGCAGAT	ENST00000443967.1	+	12	2862_2872	c.2455_2465delGAGAAGCAGAT	c.(2455-2466)gagaagcagattfs	p.EKQI819fs	KIAA1191_ENST00000393728.2_5'Flank|SIMC1_ENST00000332772.4_Frame_Shift_Del_p.EKQI280fs|RP11-843P14.2_ENST00000508187.1_RNA|SIMC1_ENST00000430704.2_Frame_Shift_Del_p.EKQI404fs|SIMC1_ENST00000341199.6_Frame_Shift_Del_p.EKQI404fs			Q8NDZ2	SIMC1_HUMAN	SUMO-interacting motifs containing 1	819							SUMO polymer binding (GO:0032184)										GGTAGACGTAGAGAAGCAGATTGAGGCCTTC	0.502																																																0																																										SO:0001589	frameshift_variant	375484			BC037298	CCDS4398.2	5q35.2	2013-08-14	2012-11-14	2012-11-14	ENSG00000170085	ENSG00000170085			24779	protein-coding gene	gene with protein product	"oocyte maturation associated 1", "platform element for inhibition of autolytic degradation"		"chromosome 5 open reading frame 25"	C5orf25		23086935, 23707407	Standard	NM_198567		Approved	FLJ44216, OOMA1, PLEIAD	uc003mds.4	Q8NDZ2	OTTHUMG00000130663	ENST00000443967.1:c.2455_2465delGAGAAGCAGAT	chr5.hg19:g.175772284_175772294delGAGAAGCAGAT	ENSP00000406571:p.Glu819fs		J3KQQ8|Q6NXN8|Q6ZTU4|Q8IZ15	Frame_Shift_Del	DEL	ENST00000443967.1	hg19																																																																																					0.502	SIMC1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000253155.2	NM_198567		-	175772294	GAGAAGCAGAT	-	175772284	7	5	667	1	0	1	0	1	0	0	0	0	2290	943	33	0	1244	0	C5orf25	5	175772284	Frame_Shift_Del	DEL	GAGAAGCAGAT	TCGA-GL-A9DD-01A-11D-A36X-10	34914517	175772284	5142976	40	36487											
MTCH1	23787	hgsc.bcm.edu	37	6	36936732	36936732	+	Missense_Mutation	SNP	A	A	C			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr6:36936732A>C	ENST00000373627.5	-	12	1241	c.1117T>G	c.(1117-1119)Tcc>Gcc	p.S373A	MTCH1_ENST00000373616.5_Missense_Mutation_p.S356A|MTCH1_ENST00000471737.1_5'UTR	NM_001271641.1	NP_001258570.1	Q9NZJ7	MTCH1_HUMAN	mitochondrial carrier 1	373					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|neuronal ion channel clustering (GO:0045161)|positive regulation of apoptotic process (GO:0043065)|regulation of signal transduction (GO:0009966)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						AGCAGGCTGGAGCCTCGGAAG	0.562																																																0													78	70	73					6																	36936732		2203	4300	6503	SO:0001583	missense	23787			AF151822	CCDS4828.1, CCDS64411.1	6p21.2	2013-05-22	2011-05-19		ENSG00000137409	ENSG00000137409		"Solute carriers"	17586	protein-coding gene	gene with protein product	"solute carrier family 25, member 49"	610449	"mitochondrial carrier homolog 1 (C. elegans)"			12377771	Standard	NM_014341		Approved	CGI-64, PSAP, SLC25A49	uc003ond.2	Q9NZJ7	OTTHUMG00000014614	ENST00000373627.5:c.1117T>G	chr6.hg19:g.36936732A>C	ENSP00000362730:p.Ser373Ala		A8KAX5|B2RCE3|Q6PK60|Q6UX45|Q7L465|Q9BW23|Q9NZR6|Q9UJZ5	Missense_Mutation	SNP	ENST00000373627.5	hg19		.	.	.	.	.	.	.	.	.	.	A	17.75	3.465220	0.63513	.	.	ENSG00000137409	ENST00000373616;ENST00000373627;ENST00000337855	T;T	0.77229	-1.08;-1.08	5.16	5.16	0.70880	Mitochondrial carrier domain (2);	2.951400	0.01758	N	0.030350	T	0.79233	0.4411	L	0.44542	1.39	0.80722	D	1	D;D	0.56521	0.976;0.974	P;D	0.67725	0.86;0.953	T	0.67146	-0.5744	10	0.20046	T	0.44	.	13.5751	0.61868	1.0:0.0:0.0:0.0	.	373;356	Q9NZJ7;Q9NZJ7-2	MTCH1_HUMAN;.	A	356;373;292	ENSP00000362718:S356A;ENSP00000362730:S373A	ENSP00000338712:S292A	S	-	1	0	MTCH1	37044710	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.964000	0.76061	1.955000	0.56771	0.533000	0.62120	TCC		0.562	MTCH1-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040396.1	NM_014341		C	36936732	A	C	36936732	3	2	667	1	0	0	0	0	1	0	0	0	9915	304	11	5	56	5	MTCH1	6	36936732	Missense_Mutation	SNP	A	TCGA-GL-A9DD-01A-11D-A36X-10		36936732	134178335	41	36488											
CYP39A1	51302	hgsc.bcm.edu	37	6	46604152	46604152	+	Missense_Mutation	SNP	A	A	C			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr6:46604152A>C	ENST00000275016.2	-	5	909	c.706T>G	c.(706-708)Tgt>Ggt	p.C236G		NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1	236					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						GCAGATTTACATGCTTTTATA	0.254																																																0													48	49	49					6																	46604152		2201	4291	6492	SO:0001583	missense	51302			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.706T>G	chr6.hg19:g.46604152A>C	ENSP00000275016:p.Cys236Gly		Q5VTT0|Q96FW5	Missense_Mutation	SNP	ENST00000275016.2	hg19	CCDS4916.1	.	.	.	.	.	.	.	.	.	.	A	6.429	0.447325	0.12223	.	.	ENSG00000146233	ENST00000275016	T	0.67698	-0.28	6.04	-4.27	0.03744	.	1.033410	0.07651	N	0.931975	T	0.13841	0.0335	N	0.08118	0	0.09310	N	1	B;B	0.13145	0.003;0.007	B;B	0.11329	0.004;0.006	T	0.09885	-1.0654	10	0.15066	T	0.55	1.0091	1.0259	0.01527	0.2813:0.1006:0.277:0.3411	.	216;236	B7Z786;Q9NYL5	.;CP39A_HUMAN	G	236	ENSP00000275016:C236G	ENSP00000275016:C236G	C	-	1	0	CYP39A1	46712111	0.000000	0.05858	0.000000	0.03702	0.575000	0.36095	-0.191000	0.09601	-0.304000	0.08843	0.459000	0.35465	TGT		0.254	CYP39A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040787.1			C	46604152	A	C	46604152	3	2	667	1	0	0	0	0	1	0	0	0	4179	217	8	5	735	5	CYP39A1	6	46604152	Missense_Mutation	SNP	A	TCGA-GL-A9DD-01A-11D-A36X-10	9667420	46604152	124510915	42	36489											
EYS	346007	hgsc.bcm.edu	37	6	64574111	64574111	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr6:64574111delG	ENST00000370621.3	-	36	7722	c.7196delC	c.(7195-7197)ccafs	p.P2399fs	EYS_ENST00000370616.2_Frame_Shift_Del_p.P2399fs|EYS_ENST00000503581.1_Frame_Shift_Del_p.P2399fs			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	2399	EGF-like 23. {ECO:0000255|PROSITE- ProRule:PRU00076}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CCTCCCATATGGGCAGAGGCA	0.468																																																0													112	94	99					6																	64574111		692	1591	2283	SO:0001589	frameshift_variant	346007				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.7196delC	chr6.hg19:g.64574111delG	ENSP00000359655:p.Pro2399fs		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Frame_Shift_Del	DEL	ENST00000370621.3	hg19																																																																																					0.468	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		-	64574111	G	-	64574111	7	5	667	1	0	1	0	1	0	0	0	0	5334	1348	47	0	2270	0	EYS	6	64574111	Frame_Shift_Del	DEL	G	TCGA-GL-A9DD-01A-11D-A36X-10	17969959	64574111	106540956	43	36490											
MDN1	23195	hgsc.bcm.edu	37	6	90405588	90405588	+	Missense_Mutation	SNP	G	G	T			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr6:90405588G>T	ENST00000369393.3	-	61	9622	c.9507C>A	c.(9505-9507)agC>agA	p.S3169R	MDN1_ENST00000428876.1_Missense_Mutation_p.S3169R			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3169					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AGGCCTGGCTGCTCCCAAGCA	0.642																																																0													39	41	41					6																	90405588		2203	4300	6503	SO:0001583	missense	23195			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.9507C>A	chr6.hg19:g.90405588G>T	ENSP00000358400:p.Ser3169Arg		O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	hg19	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	6.555	0.470722	0.12461	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03124	4.04;4.04	5.19	0.217	0.15264	.	0.622155	0.16894	N	0.195186	T	0.00468	0.0015	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43988	-0.9357	10	0.19147	T	0.46	.	2.3682	0.04324	0.2946:0.148:0.4511:0.1064	.	3169	Q9NU22	MDN1_HUMAN	R	3169	ENSP00000358400:S3169R;ENSP00000413970:S3169R	ENSP00000358400:S3169R	S	-	3	2	MDN1	90462309	0.940000	0.31905	0.015000	0.15790	0.809000	0.45718	0.326000	0.19646	-0.277000	0.09193	-0.140000	0.14226	AGC		0.642	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			T	90405588	G	T	90405588	3	4	667	1	0	0	0	0	1	0	0	0	9417	1310	46	4	7451	4	MDN1	6	90405588	Missense_Mutation	SNP	G	TCGA-GL-A9DD-01A-11D-A36X-10	25831477	90405588	80709479	44	36491											
AKD1	221264	hgsc.bcm.edu	37	6	109954291	109954291	+	Silent	SNP	G	G	T			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr6:109954291G>T	ENST00000424296.2	-	12	1165	c.1089C>A	c.(1087-1089)atC>atA	p.I363I	AK9_ENST00000341338.6_5'UTR|AK9_ENST00000285397.5_Silent_p.I363I|AK9_ENST00000368948.2_Silent_p.I363I	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	363					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)										AAAGACAGTAGATTTTACCTA	0.338																																																0													82	77	79					6																	109954291		2203	4300	6503	SO:0001819	synonymous_variant	221264			AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"chromosome 6 open reading frame 224", "adenylate kinase domain containing 2", "chromosome 6 open reading frame 199", "adenylate kinase domain containing 1"	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.1089C>A	chr6.hg19:g.109954291G>T			A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Silent	SNP	ENST00000424296.2	hg19	CCDS55048.1																																																																																				0.338	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001145128		T	109954291	G	T	109954291	2	4	667	1	0	0	0	0	0	0	0	1	460	932	33	4		4	AKD1	6	109954291	Silent	SNP	G	TCGA-GL-A9DD-01A-11D-A36X-10	19548703	109954291	61160776	45	36492											
KATNA1	11104	hgsc.bcm.edu	37	6	149944285	149944285	+	Missense_Mutation	SNP	A	A	T			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr6:149944285A>T	ENST00000335647.5	-	3	499	c.455T>A	c.(454-456)gTt>gAt	p.V152D	KATNA1_ENST00000494504.1_5'Flank|KATNA1_ENST00000367411.2_Missense_Mutation_p.V152D|KATNA1_ENST00000335643.8_Missense_Mutation_p.V152D					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)		ACGACAACGAACAGCTTTCCC	0.358																																																0													176	141	153					6																	149944285		2203	4300	6503	SO:0001583	missense	11104			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.455T>A	chr6.hg19:g.149944285A>T	ENSP00000335106:p.Val152Asp			Missense_Mutation	SNP	ENST00000335647.5	hg19	CCDS5217.1	.	.	.	.	.	.	.	.	.	.	A	13.73	2.324241	0.41197	.	.	ENSG00000186625	ENST00000335647;ENST00000335643;ENST00000367411;ENST00000444282;ENST00000420200	D;D;D;D	0.95853	-3.39;-3.52;-3.39;-3.83	5.88	4.72	0.59763	.	0.523100	0.21943	N	0.066860	D	0.86707	0.5997	L	0.33485	1.01	0.58432	D	0.999999	B;P;B	0.35656	0.025;0.514;0.012	B;B;B	0.34242	0.028;0.178;0.028	D	0.84247	0.0475	9	.	.	.	.	12.0234	0.53356	0.9325:0.0:0.0675:0.0	.	152;152;152	A8K7S5;O75449-2;O75449	.;.;KTNA1_HUMAN	D	152	ENSP00000335106:V152D;ENSP00000335180:V152D;ENSP00000356381:V152D;ENSP00000390322:V152D	.	V	-	2	0	KATNA1	149985978	1.000000	0.71417	0.889000	0.34880	0.996000	0.88848	5.934000	0.70138	1.044000	0.40200	0.482000	0.46254	GTT		0.358	KATNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042641.2	NM_007044		T	149944285	A	T	149944285	3	4	667	1	0	0	0	0	1	0	0	0	7986	43	2	5	1052	5	KATNA1	6	149944285	Missense_Mutation	SNP	A	TCGA-GL-A9DD-01A-11D-A36X-10	39989994	149944285	21170782	46	36493											
ZNF479	90827	hgsc.bcm.edu	37	7	57187920	57187920	+	Missense_Mutation	SNP	C	C	G	rs572783904		TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr7:57187920C>G	ENST00000331162.4	-	5	1472	c.1202G>C	c.(1201-1203)aGa>aCa	p.R401T		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	401					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.R401I(1)		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)			AGTATGAATTCTCTTGTGGAT	0.438																																																1	Substitution - Missense(1)	large_intestine(1)											14	12	13					7																	57187920		1821	3902	5723	SO:0001583	missense	90827			AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"Zinc fingers, C2H2-type", "-"	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.1202G>C	chr7.hg19:g.57187920C>G	ENSP00000333776:p.Arg401Thr			Missense_Mutation	SNP	ENST00000331162.4	hg19	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	c	8.487	0.861161	0.17178	.	.	ENSG00000185177	ENST00000331162	T	0.02421	4.3	0.946	-0.375	0.12509	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03136	0.0092	L	0.56340	1.77	0.24060	N	0.996018	P	0.50066	0.931	B	0.41088	0.347	T	0.33471	-0.9867	9	0.66056	D	0.02	.	2.1182	0.03719	0.2948:0.4775:0.0:0.2278	.	401	Q96JC4	ZN479_HUMAN	T	401	ENSP00000333776:R401T	ENSP00000333776:R401T	R	-	2	0	ZNF479	57191862	0.001000	0.12720	0.012000	0.15200	0.012000	0.07955	1.404000	0.34623	-1.303000	0.02332	-1.323000	0.01288	AGA		0.438	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		G	57187920	C	G	57187920	3	3	667	1	0	0	0	0	1	0	0	0	17938	913	32	4	376	4	ZNF479	7	57187920	Missense_Mutation	SNP	C	TCGA-GL-A9DD-01A-11D-A36X-10		57187920	101950743	47	36494											
GTF2IRD1	9569	hgsc.bcm.edu	37	7	73953047	73953047	+	Missense_Mutation	SNP	A	A	T			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr7:73953047A>T	ENST00000265755.3	+	13	1878	c.1485A>T	c.(1483-1485)aaA>aaT	p.K495N	GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.K527N|GTF2IRD1_ENST00000476977.1_Missense_Mutation_p.K495N|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.K495N	NM_005685.3|NM_016328.2	NP_005676.3|NP_057412.1	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	495					multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transition between slow and fast fiber (GO:0014886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GGCCGATCAAAATTGAGCCAG	0.592																																																0													70	70	70					7																	73953047		2203	4300	6503	SO:0001583	missense	9569			AF151354	CCDS5571.1, CCDS47613.1, CCDS56492.1	7q11.23	2008-04-18	2002-01-14		ENSG00000006704	ENSG00000006704			4661	protein-coding gene	gene with protein product	"binding factor for early enhancer"	604318	"GTF2I repeat domain-containing 1"	WBSCR11		9774679, 10198167	Standard	NM_016328		Approved	MusTRD1, RBAP2, GTF3, WBSCR12, BEN, Cream1	uc010lbq.3	Q9UHL9	OTTHUMG00000023782	ENST00000265755.3:c.1485A>T	chr7.hg19:g.73953047A>T	ENSP00000265755:p.Lys495Asn		O95444|Q6DSU6|Q75MX7|Q86UM3|Q8WVC4|Q9UHK8|Q9UI91	Missense_Mutation	SNP	ENST00000265755.3	hg19	CCDS5571.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.323217	0.81580	.	.	ENSG00000006704	ENST00000265755;ENST00000455841;ENST00000424337;ENST00000476977	T;T;T;T	0.52754	0.68;0.67;0.71;0.65	4.8	2.34	0.29019	.	0.000000	0.85682	D	0.000000	T	0.60741	0.2292	M	0.65498	2.005	0.50632	D	0.999881	D;P;D;D	0.71674	0.998;0.792;0.967;0.98	D;B;P;P	0.78314	0.991;0.255;0.662;0.818	T	0.60702	-0.7211	10	0.87932	D	0	-14.944	7.1506	0.25608	0.7434:0.0:0.2566:0.0	.	527;495;495;495	Q6DSU6;E9PFE2;Q9UHL9;Q9UHL9-2	.;.;GT2D1_HUMAN;.	N	495;527;495;495	ENSP00000265755:K495N;ENSP00000397566:K527N;ENSP00000408477:K495N;ENSP00000418383:K495N	ENSP00000265755:K495N	K	+	3	2	GTF2IRD1	73590983	1.000000	0.71417	0.998000	0.56505	0.921000	0.55340	1.323000	0.33701	0.762000	0.33152	0.459000	0.35465	AAA		0.592	GTF2IRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252654.2	NM_016328		T	73953047	A	T	73953047	3	4	667	1	0	0	0	0	1	0	0	0	6870	11	1	5	1531	5	GTF2IRD1	7	73953047	Missense_Mutation	SNP	A	TCGA-GL-A9DD-01A-11D-A36X-10	16765127	73953047	85185616	48	36495											
MUC17	140453	hgsc.bcm.edu	37	7	100683876	100683876	+	Missense_Mutation	SNP	T	T	G	rs145514577		TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	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															0													275	283	280					7																	100683876		2203	4300	6503	SO:0001583	missense	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.9179T>G	chr7.hg19:g.100683876T>G	ENSP00000302716:p.Ile3060Ser		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	hg19	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		G	100683876	T	G	100683876	3	3	667	1	0	0	0	0	1	0	0	0	9976	1493	52	5	9189	5	MUC17	7	100683876	Missense_Mutation	SNP	T	TCGA-GL-A9DD-01A-11D-A36X-10	26730829	100683876	58454787	49	36496											
MOGAT3	346606	hgsc.bcm.edu	37	7	100844043	100844043	+	Silent	SNP	G	G	A			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr7:100844043G>A	ENST00000223114.4	-	1	259	c.93C>T	c.(91-93)ctC>ctT	p.L31L	MOGAT3_ENST00000379423.3_Silent_p.L31L|MOGAT3_ENST00000440203.2_Silent_p.L31L	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	31					glycerol metabolic process (GO:0006071)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|diacylglycerol O-acyltransferase activity (GO:0004144)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					AGAGGAAAGTGAGCACATATT	0.592																																																0													93	72	79					7																	100844043		2203	4300	6503	SO:0001819	synonymous_variant	346606			AY229854	CCDS5714.1, CCDS75643.1	7q22	2012-09-06			ENSG00000106384	ENSG00000106384	2.3.1.20, 2.3.1.22		23249	protein-coding gene	gene with protein product		610184				12618427, 14970677	Standard	XM_005250309		Approved	DC7, MGAT3	uc003uyc.3	Q86VF5	OTTHUMG00000023328	ENST00000223114.4:c.93C>T	chr7.hg19:g.100844043G>A			Q496A6|Q496A7|Q496A8|Q9UDW7	Silent	SNP	ENST00000223114.4	hg19	CCDS5714.1																																																																																				0.592	MOGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059649.3	NM_178176		A	100844043	G	A	100844043	2	1	667	1	0	0	0	0	0	0	0	1	9698	1277	45	2		2	MOGAT3	7	100844043	Silent	SNP	G	TCGA-GL-A9DD-01A-11D-A36X-10	160167	100844043	58294620	50	36497											
RINT1	60561	hgsc.bcm.edu	37	7	105187490	105187490	+	Missense_Mutation	SNP	G	G	A			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr7:105187490G>A	ENST00000257700.2	+	5	880	c.649G>A	c.(649-651)Gtt>Att	p.V217I		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	217					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						GAGAGCCACAGTTAAATTCTG	0.403																																																0													108	98	102					7																	105187490		2203	4300	6503	SO:0001583	missense	60561			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.649G>A	chr7.hg19:g.105187490G>A	ENSP00000257700:p.Val217Ile		Q75MG9|Q75MH0|Q96IW8|Q9H229|Q9HAD9	Missense_Mutation	SNP	ENST00000257700.2	hg19	CCDS34726.1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.650241	0.47362	.	.	ENSG00000135249	ENST00000257700	T	0.22336	1.96	5.26	4.38	0.52667	.	0.189193	0.46442	N	0.000290	T	0.19644	0.0472	L	0.48362	1.52	0.49687	D	0.999815	B	0.22346	0.068	B	0.13407	0.009	T	0.02567	-1.1140	10	0.30078	T	0.28	-10.9031	13.7518	0.62912	0.0749:0.0:0.9251:0.0	.	217	Q6NUQ1	RINT1_HUMAN	I	217	ENSP00000257700:V217I	ENSP00000257700:V217I	V	+	1	0	RINT1	104974726	1.000000	0.71417	0.884000	0.34674	0.970000	0.65996	4.771000	0.62318	1.205000	0.43262	0.563000	0.77884	GTT		0.403	RINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348686.1	NM_021930		A	105187490	G	A	105187490	3	1	667	1	0	0	0	0	1	0	0	0	13382	1029	36	2	667	2	RINT1	7	105187490	Missense_Mutation	SNP	G	TCGA-GL-A9DD-01A-11D-A36X-10	4343447	105187490	53951173	51	36498											
NAA38	84316	hgsc.bcm.edu	37	7	117828344	117828344	+	Missense_Mutation	SNP	G	G	A			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr7:117828344G>A	ENST00000249299.2	+	3	277	c.85G>A	c.(85-87)Ggt>Agt	p.G29S	NAA38_ENST00000422760.1_Missense_Mutation_p.G8S|NAA38_ENST00000424702.1_Missense_Mutation_p.G29S	NM_016200.4	NP_057284.1	Q9BRA0	LSMD1_HUMAN	N(alpha)-acetyltransferase 38, NatC auxiliary subunit	69					negative regulation of apoptotic process (GO:0043066)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)|nucleus (GO:0005634)		p.G29S(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	8						AACACTGAAAGGTTTTGACCA	0.363																																																1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											83	85	84					7																	117828344		2203	4300	6503	SO:0001583	missense	51691				CCDS11122.1	17p13.1	2014-01-21	2014-01-21	2014-01-21		ENSG00000183011		"N(alpha)-acetyltransferase subunits"	28212	protein-coding gene	gene with protein product			"LSM domain containing 1"	LSMD1		16484612, 19398576	Standard	NM_032356		Approved	MGC14151, PFAAP2	uc002gja.3	Q9BRA0		ENST00000249299.2:c.85G>A	chr7.hg19:g.117828344G>A	ENSP00000249299:p.Gly29Ser		Q8N4M0	Missense_Mutation	SNP	ENST00000249299.2	hg19	CCDS5775.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.916546	0.92249	.	.	ENSG00000128534	ENST00000249299;ENST00000424702;ENST00000422760;ENST00000411938	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.69	4.78	0.61160	Like-Sm ribonucleoprotein (LSM) domain, eukaryotic/archaea-type (1);Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.000000	0.85682	D	0.000000	T	0.61850	0.2380	.	.	.	0.80722	D	1	D	0.71674	0.998	D	0.79108	0.992	T	0.57670	-0.7771	9	0.32370	T	0.25	-19.584	16.7642	0.85520	0.0:0.1285:0.8715:0.0	.	29	O95777	NAA38_HUMAN	S	29;29;8;40	ENSP00000249299:G29S;ENSP00000395263:G29S;ENSP00000403811:G8S;ENSP00000408267:G40S	ENSP00000249299:G29S	G	+	1	0	NAA38	117615580	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.359000	0.79477	2.687000	0.91594	0.650000	0.86243	GGT		0.363	NAA38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346774.2	NM_032356		A	117828344	G	A	117828344	3	1	667	1	0	0	0	0	1	0	0	0	10126	1000	35	2	95	2	NAA38	7	117828344	Missense_Mutation	SNP	G	TCGA-GL-A9DD-01A-11D-A36X-10	12640854	117828344	41310319	52	36499											
MGAM	8972	hgsc.bcm.edu	37	7	141720863	141720863	+	Missense_Mutation	SNP	T	T	A			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr7:141720863T>A	ENST00000549489.2	+	5	633	c.538T>A	c.(538-540)Tct>Act	p.S180T	MGAM_ENST00000475668.2_Missense_Mutation_p.S180T	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	180					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)	ATATCAGACATCTAATCGTTT	0.348																																																0													99	89	92					7																	141720863		1829	4082	5911	SO:0001583	missense	8972			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.538T>A	chr7.hg19:g.141720863T>A	ENSP00000447378:p.Ser180Thr		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	hg19	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	T	11.14	1.550895	0.27739	.	.	ENSG00000257335	ENST00000465654;ENST00000549489;ENST00000475668;ENST00000548812	T;D	0.85702	-0.79;-2.02	5.22	2.71	0.32032	Glycoside hydrolase-type carbohydrate-binding (1);	0.138996	0.33875	N	0.004470	T	0.76814	0.4040	L	0.49640	1.575	0.09310	N	1	B	0.10296	0.003	B	0.11329	0.006	T	0.59273	-0.7485	10	0.21014	T	0.42	.	6.3621	0.21435	0.1454:0.0:0.3461:0.5085	.	180	O43451	MGA_HUMAN	T	180;180;180;57	ENSP00000419372:S180T;ENSP00000447378:S180T	ENSP00000316431:S57T	S	+	1	0	MGAM	141367332	0.000000	0.05858	0.748000	0.31131	0.979000	0.70002	-1.353000	0.02617	0.985000	0.38656	0.460000	0.39030	TCT		0.348	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			A	141720863	T	A	141720863	3	1	667	1	0	0	0	0	1	0	0	0	9543	1435	50	5	552	5	MGAM	7	141720863	Missense_Mutation	SNP	T	TCGA-GL-A9DD-01A-11D-A36X-10	23892519	141720863	17417800	53	36500											
ZNF786	136051	hgsc.bcm.edu	37	7	148767517	148767517	+	Nonstop_Mutation	SNP	A	A	C			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr7:148767517A>C	ENST00000491431.1	-	4	2411	c.2347T>G	c.(2347-2349)Tga>Gga	p.*783G	ZNF786_ENST00000451334.3_Nonstop_Mutation_p.*746G|ZNF786_ENST00000316286.9_Nonstop_Mutation_p.*697G	NM_152411.3	NP_689624.2	Q8N393	ZN786_HUMAN	zinc finger protein 786	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(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)			ACTCTGCCTCAACTCCAATCG	0.498																																																0													270	264	266					7																	148767517		2011	4186	6197	SO:0001578	stop_lost	136051			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.2347T>G	chr7.hg19:g.148767517A>C	ENSP00000417470:p.*783Argext*9		A1A568|B4DMI1	Missense_Mutation	SNP	ENST00000491431.1	hg19	CCDS47738.1	.	.	.	.	.	.	.	.	.	.	A	13.42	2.232594	0.39498	.	.	ENSG00000197362	ENST00000316286;ENST00000491431;ENST00000451334	.	.	.	4.62	4.62	0.57501	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.3575	0.43974	1.0:0.0:0.0:0.0	.	.	.	.	G	697;783;746	.	.	X	-	1	0	ZNF786	148398450	0.027000	0.19231	0.997000	0.53966	0.787000	0.44495	1.219000	0.32479	1.954000	0.56735	0.482000	0.46254	TGA		0.498	ZNF786-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352751.1	NM_152411		C	148767517	A	C	148767517	4	2	667	1	0	0	0	0	0	0	0	0	18163	143	5	5	5	5	ZNF786	7	148767517	Nonstop_Mutation	SNP	A	TCGA-GL-A9DD-01A-11D-A36X-10	7046654	148767517	10371146	54	36501											
ABP1	26	hgsc.bcm.edu	37	7	150554944	150554944	+	Silent	SNP	T	T	C			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr7:150554944T>C	ENST00000493429.1	+	4	1970	c.1386T>C	c.(1384-1386)gaT>gaC	p.D462D	AOC1_ENST00000467291.1_Silent_p.D462D|AOC1_ENST00000360937.4_Silent_p.D462D|AOC1_ENST00000416793.2_Silent_p.D462D			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	462					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)	ACAATTATGATTACATTTGGG	0.527																																																0													71	78	76					7																	150554944		2077	4222	6299	SO:0001819	synonymous_variant	26			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.1386T>C	chr7.hg19:g.150554944T>C			C9J690|Q16683|Q16684|Q56II4|Q6GU42	Silent	SNP	ENST00000493429.1	hg19	CCDS43679.1																																																																																				0.527	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091		C	150554944	T	C	150554944	2	2	667	1	0	0	0	0	0	0	0	1	98	1490	52	3		3	ABP1	7	150554944	Silent	SNP	T	TCGA-GL-A9DD-01A-11D-A36X-10	1787427	150554944	8583719	55	36502											
MLL3	58508	hgsc.bcm.edu	37	7	151856014	151856014	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr7:151856014delC	ENST00000262189.6	-	44	11822	c.11604delG	c.(11602-11604)aggfs	p.R3868fs	KMT2C_ENST00000355193.2_Frame_Shift_Del_p.R3868fs	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3868					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)										CGTCCTTTTTCCTTTTCTTTG	0.463																																																0													356	320	332					7																	151856014		2203	4300	6503	SO:0001589	frameshift_variant	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.11604delG	chr7.hg19:g.151856014delC	ENSP00000262189:p.Arg3868fs		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Del	DEL	ENST00000262189.6	hg19	CCDS5931.1																																																																																				0.463	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			-	151856014	C	-	151856014	7	5	667	1	0	1	0	1	0	0	0	0	9624	854	30	0	3195	0	MLL3	7	151856014	Frame_Shift_Del	DEL	C	TCGA-GL-A9DD-01A-11D-A36X-10	1301070	151856014	7282649	56	36503											
TNFRSF10D	8793	hgsc.bcm.edu	37	8	23012460	23012460	+	Missense_Mutation	SNP	C	C	A			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr8:23012460C>A	ENST00000312584.3	-	2	277	c.183G>T	c.(181-183)caG>caT	p.Q61H		NM_003840.4	NP_003831.2	Q9UBN6	TR10D_HUMAN	tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain	61					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		GAACTTCGTCCTGCCGGGGGA	0.582																																																0													55	49	51					8																	23012460		2203	4300	6503	SO:0001583	missense	8793			AF029761	CCDS6038.1	8p21	2006-02-22			ENSG00000173530	ENSG00000173530		"Tumor necrosis factor receptor superfamily", "CD molecules"	11907	protein-coding gene	gene with protein product		603614				9382840, 9537512	Standard	NM_003840		Approved	DcR2, TRUNDD, TRAILR4, CD264	uc003xcz.2	Q9UBN6	OTTHUMG00000097845	ENST00000312584.3:c.183G>T	chr8.hg19:g.23012460C>A	ENSP00000310263:p.Gln61His		B2R8W0|Q9Y6Q4	Missense_Mutation	SNP	ENST00000312584.3	hg19	CCDS6038.1	.	.	.	.	.	.	.	.	.	.	c	5.149	0.213132	0.09757	.	.	ENSG00000173530	ENST00000312584	D	0.83755	-1.76	1.72	0.824	0.18818	.	11.086800	0.00691	U	0.000727	T	0.77592	0.4153	L	0.52573	1.65	0.09310	N	1	B	0.21381	0.055	B	0.18263	0.021	T	0.53954	-0.8365	10	0.30078	T	0.28	.	4.0905	0.09967	0.0:0.7771:0.0:0.2229	.	61	Q9UBN6	TR10D_HUMAN	H	61	ENSP00000310263:Q61H	ENSP00000310263:Q61H	Q	-	3	2	TNFRSF10D	23068405	0.000000	0.05858	0.003000	0.11579	0.004000	0.04260	-1.049000	0.03514	0.303000	0.22785	0.313000	0.20887	CAG		0.582	TNFRSF10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215135.1			A	23012460	C	A	23012460	3	1	667	1	0	0	0	0	1	0	0	0	16288	680	24	4	1009	4	TNFRSF10D	8	23012460	Missense_Mutation	SNP	C	TCGA-GL-A9DD-01A-11D-A36X-10		23012460	123351562	57	36504											
TG	7038	hgsc.bcm.edu	37	8	133953675	133953675	+	Silent	SNP	C	C	A	rs142766592		TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr8:133953675C>A	ENST00000220616.4	+	26	5161	c.5121C>A	c.(5119-5121)ccC>ccA	p.P1707P	TG_ENST00000377869.1_Silent_p.P1650P|TG_ENST00000542445.1_Intron	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1707					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)		TGTACAACCCCATTGTGTTCT	0.502																																																0													171	144	153					8																	133953675		2203	4300	6503	SO:0001819	synonymous_variant	7038			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.5121C>A	chr8.hg19:g.133953675C>A			O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	hg19	CCDS34944.1																																																																																				0.502	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		A	133953675	C	A	133953675	2	1	667	1	0	0	0	0	0	0	0	1	15818	581	21	4		4	TG	8	133953675	Silent	SNP	C	TCGA-GL-A9DD-01A-11D-A36X-10	110941215	133953675	12410347	58	36505											
PLEC	5339	hgsc.bcm.edu	37	8	144999275	144999275	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr8:144999275C>T	ENST00000322810.4	-	31	5402	c.5233G>A	c.(5233-5235)Gag>Aag	p.E1745K	PLEC_ENST00000354589.3_Missense_Mutation_p.E1608K|PLEC_ENST00000527096.1_Missense_Mutation_p.E1631K|PLEC_ENST00000356346.3_Missense_Mutation_p.E1594K|PLEC_ENST00000357649.2_Missense_Mutation_p.E1612K|PLEC_ENST00000345136.3_Missense_Mutation_p.E1608K|PLEC_ENST00000436759.2_Missense_Mutation_p.E1635K|PLEC_ENST00000354958.2_Missense_Mutation_p.E1586K|PLEC_ENST00000398774.2_Missense_Mutation_p.E1576K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1745	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						TCAGCCTCCTCCCGCAGCTGT	0.711																																																0													3	3	3					8																	144999275		1885	3799	5684	SO:0001583	missense	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.5233G>A	chr8.hg19:g.144999275C>T	ENSP00000323856:p.Glu1745Lys		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	hg19	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.946650	0.73672	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.77877	-1.09;-1.08;-1.13;-1.13;-1.07;-1.09;-1.08;-1.09;-1.08	4.71	4.71	0.59529	.	0.187621	0.31010	U	0.008426	D	0.86389	0.5921	M	0.72894	2.215	0.48288	D	0.999622	P;P;P;P;P;P;D;P	0.71674	0.908;0.908;0.908;0.851;0.908;0.908;0.998;0.908	P;P;P;B;P;P;D;P	0.67900	0.492;0.492;0.492;0.297;0.492;0.492;0.954;0.492	D	0.86228	0.1635	10	0.39692	T	0.17	.	17.273	0.87107	0.0:1.0:0.0:0.0	.	1635;1594;1586;1745;1576;1608;1612;1608	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	K	1608;1612;1608;1576;1745;1586;1594;1635;1631	ENSP00000344848:E1608K;ENSP00000350277:E1612K;ENSP00000346602:E1608K;ENSP00000381756:E1576K;ENSP00000323856:E1745K;ENSP00000347044:E1586K;ENSP00000348702:E1594K;ENSP00000388180:E1635K;ENSP00000434583:E1631K	ENSP00000323856:E1745K	E	-	1	0	PLEC	145071263	0.980000	0.34600	0.989000	0.46669	0.959000	0.62525	3.143000	0.50608	2.166000	0.68216	0.542000	0.68232	GAG		0.711	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		T	144999275	C	T	144999275	3	4	667	1	0	0	0	0	1	0	0	0	12054	864	30	2	8829	2	PLEC	8	144999275	Missense_Mutation	SNP	C	TCGA-GL-A9DD-01A-11D-A36X-10	11045600	144999275	1364747	59	36506											
PTPRD	5789	hgsc.bcm.edu	37	9	8341183	8341183	+	Missense_Mutation	SNP	A	A	C			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr9:8341183A>C	ENST00000381196.4	-	38	5576	c.5033T>G	c.(5032-5034)aTt>aGt	p.I1678S	PTPRD_ENST00000397617.3_Missense_Mutation_p.I1271S|PTPRD_ENST00000358503.5_Missense_Mutation_p.I1656S|PTPRD_ENST00000397611.3_Missense_Mutation_p.I1268S|PTPRD_ENST00000537002.1_Missense_Mutation_p.I1268S|PTPRD_ENST00000540109.1_Missense_Mutation_p.I1678S|PTPRD_ENST00000397606.3_Missense_Mutation_p.I1271S|PTPRD_ENST00000355233.5_Missense_Mutation_p.I1272S|PTPRD_ENST00000356435.5_Missense_Mutation_p.I1678S|PTPRD_ENST00000360074.4_Missense_Mutation_p.I1665S|PTPRD_ENST00000486161.1_Missense_Mutation_p.I1271S	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1678	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				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)		ATATGGCATAATATTAACAAG	0.398										TSP Lung(15;0.13)																																						0													195	206	202					9																	8341183		2203	4300	6503	SO:0001583	missense	5789			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.5033T>G	chr9.hg19:g.8341183A>C	ENSP00000370593:p.Ile1678Ser		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	hg19	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.030464	0.75504	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	D;D;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;-2.01;-2.01	6.07	6.07	0.98685	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.049513	0.85682	D	0.000000	D	0.95417	0.8512	H	0.97365	3.99	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	0.994;0.994;0.994;0.994;1.0;0.992;1.0;0.996;0.999	D;D;D;D;D;D;D;D;D	0.97110	0.988;0.988;0.988;0.988;1.0;0.979;0.999;0.994;0.999	D	0.96950	0.9694	9	.	.	.	.	16.6406	0.85098	1.0:0.0:0.0:0.0	.	1271;1262;1271;1272;1268;1268;1665;1678;1678	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	S	1678;1678;1665;1656;1272;1271;1268;1268;1149;1678;1271;1271	ENSP00000370593:I1678S;ENSP00000348812:I1678S;ENSP00000353187:I1665S;ENSP00000351293:I1656S;ENSP00000347373:I1272S;ENSP00000380741:I1271S;ENSP00000380735:I1268S;ENSP00000440515:I1268S;ENSP00000438164:I1678S;ENSP00000417093:I1271S;ENSP00000380731:I1271S	.	I	-	2	0	PTPRD	8331183	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.287000	0.95975	2.326000	0.78906	0.533000	0.62120	ATT		0.398	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			C	8341183	A	C	8341183	3	2	667	1	0	0	0	0	1	0	0	0	12805	101	4	5	729	5	PTPRD	9	8341183	Missense_Mutation	SNP	A	TCGA-GL-A9DD-01A-11D-A36X-10		8341183	132872248	60	36507											
PSIP1	11168	hgsc.bcm.edu	37	9	15472713	15472713	+	Missense_Mutation	SNP	G	G	T			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr9:15472713G>T	ENST00000380733.4	-	10	1237	c.894C>A	c.(892-894)caC>caA	p.H298Q	PSIP1_ENST00000380716.4_Missense_Mutation_p.H298Q|PSIP1_ENST00000380715.1_Missense_Mutation_p.H298Q|PSIP1_ENST00000397519.2_Missense_Mutation_p.H298Q|PSIP1_ENST00000380738.4_Missense_Mutation_p.H298Q			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	298					establishment of integrated proviral latency (GO:0075713)|mRNA 5'-splice site recognition (GO:0000395)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to heat (GO:0009408)|response to oxidative stress (GO:0006979)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription coactivator activity (GO:0001105)|supercoiled DNA binding (GO:0097100)			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		TATTCCTTCTGTGAGCAGTCT	0.368																																																0													185	163	170					9																	15472713		2203	4300	6503	SO:0001583	missense	11168			AF098482	CCDS6479.1, CCDS6480.1	9p22.2	2008-02-05	2004-02-24		ENSG00000164985	ENSG00000164985			9527	protein-coding gene	gene with protein product		603620	"PC4 and SFRS1 interacting protein 2"	PSIP2		9822615, 9885563	Standard	NM_033222		Approved	p52, LEDGF, p75	uc003zlw.4	O75475	OTTHUMG00000021021	ENST00000380733.4:c.894C>A	chr9.hg19:g.15472713G>T	ENSP00000370109:p.His298Gln		D3DRI9|O00256|O95368|Q6P391|Q86YB9|Q9NZI3|Q9UER6	Missense_Mutation	SNP	ENST00000380733.4	hg19	CCDS6479.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.058992	0.55325	.	.	ENSG00000164985	ENST00000380733;ENST00000380738;ENST00000380715;ENST00000380716;ENST00000397519	T;T;T;T;T	0.42131	1.0;1.0;0.99;0.98;0.98	6.07	0.269	0.15631	.	0.271857	0.42420	N	0.000704	T	0.26774	0.0655	L	0.35723	1.085	0.28008	N	0.935038	B;B	0.12013	0.005;0.003	B;B	0.10450	0.005;0.001	T	0.16394	-1.0404	10	0.23302	T	0.38	.	7.352	0.26697	0.3068:0.1518:0.5415:0.0	.	298;298	O75475-2;O75475	.;PSIP1_HUMAN	Q	298	ENSP00000370109:H298Q;ENSP00000370114:H298Q;ENSP00000370091:H298Q;ENSP00000370092:H298Q;ENSP00000380653:H298Q	ENSP00000370091:H298Q	H	-	3	2	PSIP1	15462713	1.000000	0.71417	0.990000	0.47175	0.971000	0.66376	1.086000	0.30853	-0.146000	0.11274	0.585000	0.79938	CAC		0.368	PSIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055445.1	NM_033222		T	15472713	G	T	15472713	3	4	667	1	0	0	0	0	1	0	0	0	12668	1368	48	4	755	4	PSIP1	9	15472713	Missense_Mutation	SNP	G	TCGA-GL-A9DD-01A-11D-A36X-10	7131530	15472713	125740718	61	36508											
MAPKAP1	79109	hgsc.bcm.edu	37	9	128347834	128347834	+	Splice_Site	SNP	T	T	C			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr9:128347834T>C	ENST00000373498.1	-	4	739	c.671A>G	c.(670-672)aAt>aGt	p.N224S	MAPKAP1_ENST00000394063.1_Splice_Site_p.N32S|MAPKAP1_ENST00000373503.3_Splice_Site_p.N32S|MAPKAP1_ENST00000265960.3_Splice_Site_p.N224S|MAPKAP1_ENST00000350766.3_Splice_Site_p.N224S|MAPKAP1_ENST00000373497.5_Splice_Site_p.K32R|MAPKAP1_ENST00000373511.2_Splice_Site_p.N224S|MAPKAP1_ENST00000394060.3_Splice_Site_p.N224S			Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	224	Interaction with NBN.				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 Ras protein signal transduction (GO:0046580)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|substantia nigra development (GO:0021762)|T cell costimulation (GO:0031295)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein kinase binding (GO:0019901)|Ras GTPase binding (GO:0017016)			endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						AATGGATTACTTGAGCTTCGG	0.537																																																0													108	94	98					9																	128347834		2203	4300	6503	SO:0001630	splice_region_variant	79109			M37191	CCDS6864.1, CCDS35139.1, CCDS35140.1, CCDS35141.1, CCDS48020.1	9q34.11	2008-02-05			ENSG00000119487	ENSG00000119487			18752	protein-coding gene	gene with protein product	"stress-activated protein kinase-interacting 1"	610558				15363842	Standard	NM_001006620		Approved	MGC2745, SIN1, MIP1	uc004bpv.3	Q9BPZ7	OTTHUMG00000020683	ENST00000373498.1:c.671+1A>G	chr9.hg19:g.128347834T>C			A8K1Z5|B1AMA4|B7Z309|Q00426|Q5JSV5|Q5JSV6|Q5JSV9|Q658R0|Q699U1|Q699U2|Q699U3|Q699U4|Q6GVJ0|Q6GVJ1|Q6GVJ2	Missense_Mutation	SNP	ENST00000373498.1	hg19	CCDS35140.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.98|16.98	3.270351|3.270351	0.59540|0.59540	.|.	.|.	ENSG00000119487|ENSG00000119487	ENST00000373497|ENST00000373511;ENST00000350766;ENST00000373503;ENST00000373498;ENST00000265960;ENST00000394063;ENST00000420643;ENST00000394060;ENST00000427078;ENST00000468896	.|.	.|.	.|.	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	.|0.040219	.|0.85682	.|D	.|0.000000	T|T	0.43809|0.43809	0.1264|0.1264	L|L	0.48362|0.48362	1.52|1.52	0.26792|0.26792	N|N	0.969376|0.969376	P|B;B;B;B;B	0.38711|0.28933	0.643|0.228;0.228;0.034;0.169;0.074	B|B;B;B;B;B	0.36567|0.30855	0.228|0.121;0.085;0.062;0.115;0.08	T|T	0.35699|0.35699	-0.9778|-0.9778	7|8	.|.	.|.	.|.	-7.1874|-7.1874	15.448|15.448	0.75248|0.75248	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	32|224;224;224;224;224	B7Z5E5|Q9BPZ7-6;Q9BPZ7-5;Q9BPZ7-3;Q9BPZ7-2;Q9BPZ7	.|.;.;.;.;SIN1_HUMAN	R|S	32|224;224;32;224;224;32;32;224;32;125	.|.	.|.	K|N	-|-	2|2	0|0	MAPKAP1|MAPKAP1	127387655|127387655	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.966000|0.966000	0.64601|0.64601	4.118000|4.118000	0.57884|0.57884	2.240000|2.240000	0.73641|0.73641	0.533000|0.533000	0.62120|0.62120	AAA|AAT		0.537	MAPKAP1-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054092.1		Missense_Mutation	C	128347834	T	C	128347834	5	2	667	1	0	0	0	0	0	0	1	0	9290	1623	56	3	947	3	MAPKAP1	9	128347834	Splice_Site	SNP	T	TCGA-GL-A9DD-01A-11D-A36X-10	112875121	128347834	12865597	62	36509											
POMT1	10585	hgsc.bcm.edu	37	9	134394275	134394276	+	Frame_Shift_Del	DEL	GG	GG	-	rs376882399		TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	GG	GG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr9:134394275_134394276delGG	ENST00000372228.3	+	15	1662_1663	c.1483_1484delGG	c.(1483-1485)gggfs	p.G495fs	POMT1_ENST00000485278.1_3'UTR|POMT1_ENST00000423007.1_Frame_Shift_Del_p.G473fs|POMT1_ENST00000541219.1_Frame_Shift_Del_p.G251fs|POMT1_ENST00000354713.4_Frame_Shift_Del_p.G443fs|POMT1_ENST00000341012.7_Frame_Shift_Del_p.G419fs|POMT1_ENST00000404875.2_Frame_Shift_Del_p.G356fs|POMT1_ENST00000402686.3_Frame_Shift_Del_p.G473fs|POMT1_ENST00000419118.2_Frame_Shift_Del_p.G321fs|RP11-334J6.6_ENST00000415423.1_RNA	NM_007171.3	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	495	MIR 3. {ECO:0000255|PROSITE- ProRule:PRU00131}.				carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|mannosylation (GO:0097502)|multicellular organismal development (GO:0007275)|protein O-linked glycosylation (GO:0006493)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|sarcoplasmic reticulum (GO:0016529)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannosyltransferase activity (GO:0000030)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		GGAGATCGTCGGGGAGAAGCTG	0.673																																																0																																										SO:0001589	frameshift_variant	10585			AF095136	CCDS6943.1, CCDS43894.1, CCDS43895.1, CCDS48045.1	9q34.1	2014-09-17			ENSG00000130714	ENSG00000130714	2.4.1.109	"Dolichyl D-mannosyl phosphate dependent mannosyltransferases"	9202	protein-coding gene	gene with protein product	"dolichyl-phosphate-mannose-protein mannosyltransferase"	607423				10366449	Standard	NM_001077366		Approved	LGMD2K	uc004cav.3	Q9Y6A1	OTTHUMG00000020826	ENST00000372228.3:c.1483_1484delGG	chr9.hg19:g.134394277_134394278delGG	ENSP00000361302:p.Gly495fs		B3KQG0|B4DIF0|Q5JT01|Q5JT06|Q5JT08|Q8NC91|Q8TCA9|Q9NX32|Q9NX82|Q9UNT2	Frame_Shift_Del	DEL	ENST00000372228.3	hg19	CCDS6943.1																																																																																				0.673	POMT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054737.1	NM_007171		-	134394276	GG	-	134394275	7	5	667	1	0	1	0	1	0	0	0	0	12247	1116	39	0	1537	0	POMT1	9	134394275	Frame_Shift_Del	DEL	GG	TCGA-GL-A9DD-01A-11D-A36X-10	6046441	134394275	6819156	63	36510											
RPL7A	6130	hgsc.bcm.edu	37	9	136215842	136215842	+	Silent	SNP	G	G	A			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr9:136215842G>A	ENST00000323345.6	+	2	99	c.69G>A	c.(67-69)gaG>gaA	p.E23E	MED22_ENST00000344469.5_5'Flank|SURF1_ENST00000495952.1_5'Flank|RPL7A_ENST00000463740.1_3'UTR|RPL7A_ENST00000315731.4_5'UTR|SNORD36B_ENST00000363961.1_RNA|MED22_ENST00000343730.5_5'Flank|MED22_ENST00000371999.1_5'Flank|SNORD24_ENST00000383884.1_RNA|MED22_ENST00000471524.1_5'Flank|SNORD36C_ENST00000516733.1_RNA|MED22_ENST00000476080.1_5'Flank|MED22_ENST00000491289.1_5'Flank|SNORD36A_ENST00000362874.1_RNA	NM_000972.2	NP_000963.1	P62424	RL7A_HUMAN	ribosomal protein L7a	23					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 large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			cervix(1)|endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(145;4.93e-07)|Epithelial(140;4.09e-06)|all cancers(34;3.78e-05)		AGAAGCAGGAGGCTAAGAAAG	0.483																																																0													51	55	54					9																	136215842		2203	4296	6499	SO:0001819	synonymous_variant	6130			BC005128	CCDS6965.1	9q34	2011-04-06			ENSG00000148303	ENSG00000148303		"L ribosomal proteins"	10364	protein-coding gene	gene with protein product	"surfeit 3", "PLA-X polypeptide", "surfeit locus protein 3", "60S ribosomal protein L7a", ";", "thyroid hormone receptor uncoupling protein"	185640				2403926, 2966065	Standard	NM_000972		Approved	SURF3, TRUP, L7A	uc004cde.1	P62424	OTTHUMG00000020864	ENST00000323345.6:c.69G>A	chr9.hg19:g.136215842G>A			P11518|Q5T8U4	Silent	SNP	ENST00000323345.6	hg19	CCDS6965.1																																																																																				0.483	RPL7A-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054869.1	NM_000972		A	136215842	G	A	136215842	2	1	667	1	0	0	0	0	0	0	0	1	13606	991	35	2		2	RPL7A	9	136215842	Silent	SNP	G	TCGA-GL-A9DD-01A-11D-A36X-10	1821567	136215842	4997589	64	36511											
SNAPC4	6621	hgsc.bcm.edu	37	9	139292750	139292751	+	Splice_Site	DNP	CC	CC	AA	rs7031489	byFrequency	TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr9:139292750_139292751CC>AA	ENST00000298532.2	-	1	498_499	c.130_131GG>TT	c.(130-132)GGt>TTt	p.G44F		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa											biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		AAGGGGCTTACCTGCTTCAGAA	0.554																																																0																																										SO:0001630	splice_region_variant	6621			AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"small nuclear RNA activating complex, polypeptide 4, 190kD"			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.130_131delinsAA	chr9.hg19:g.139292750_139292751delinsAA				Splice_Site|Missense_Mutation	SNP	ENST00000298532.2	hg19	CCDS6998.1																																																																																				0.554	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055071.1	NM_003086	Missense_Mutation	AA	139292751	CC	AA	139292750	5	1	667	1	0	0	0	0	0	0	1	0	14843	521	18	4	4366	4	SNAPC4	9	139292750	Splice_Site	DNP	CC	TCGA-GL-A9DD-01A-11D-A36X-10	3076908	139292750	1920681	65	36512											
PIP4K2A	5305	hgsc.bcm.edu	37	10	22862322	22862322	+	Missense_Mutation	SNP	A	A	G			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr10:22862322A>G	ENST00000376573.4	-	5	785	c.557T>C	c.(556-558)gTt>gCt	p.V186A	PIP4K2A_ENST00000545335.1_Missense_Mutation_p.V127A|PIP4K2A_ENST00000323883.7_Missense_Mutation_p.V32A|PIP4K2A_ENST00000422321.1_5'UTR	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	186	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				megakaryocyte development (GO:0035855)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|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)			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						AACTCCATCAACATTAAGCCG	0.388																																																0													116	99	105					10																	22862322		2203	4300	6503	SO:0001583	missense	5305			S78798	CCDS7141.1	10p12.2	2007-08-21	2007-08-14	2007-08-14	ENSG00000150867	ENSG00000150867			8997	protein-coding gene	gene with protein product		603140	"phosphatidylinositol-4-phosphate 5-kinase, type II, alpha"	PIP5K2A		7852364, 9367159	Standard	NM_005028		Approved	PIP5KIIA, PIP5KIIalpha	uc001irl.4	P48426	OTTHUMG00000017810	ENST00000376573.4:c.557T>C	chr10.hg19:g.22862322A>G	ENSP00000365757:p.Val186Ala		B0YJ66|B4DGX2|D3DRV1|P53807|Q5VUX3	Missense_Mutation	SNP	ENST00000376573.4	hg19	CCDS7141.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.723888	0.89298	.	.	ENSG00000150867	ENST00000376573;ENST00000323883;ENST00000545335;ENST00000422321;ENST00000376565	T;T;T	0.31510	1.49;1.49;1.49	5.5	5.5	0.81552	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.52125	0.1715	M	0.72479	2.2	0.80722	D	1	B;P	0.45240	0.261;0.854	B;P	0.59012	0.42;0.85	T	0.47971	-0.9075	10	0.39692	T	0.17	-29.164	15.9002	0.79369	1.0:0.0:0.0:0.0	.	32;186	B4DH09;P48426	.;PI42A_HUMAN	A	186;32;127;138;145	ENSP00000365757:V186A;ENSP00000326294:V32A;ENSP00000442098:V127A	ENSP00000326294:V32A	V	-	2	0	PIP4K2A	22902328	1.000000	0.71417	0.928000	0.36995	0.962000	0.63368	8.865000	0.92300	2.219000	0.72066	0.533000	0.62120	GTT		0.388	PIP4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047193.1	NM_005028		G	22862322	A	G	22862322	3	3	667	1	0	0	0	0	1	0	0	0	11938	43	2	3	687	3	PIP4K2A	10	22862322	Missense_Mutation	SNP	A	TCGA-GL-A9DD-01A-11D-A36X-10		22862322	112672425	66	36513											
JMJD1C	221037	hgsc.bcm.edu	37	10	64976992	64976992	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr10:64976992C>T	ENST00000399262.2	-	5	871	c.653G>A	c.(652-654)cGc>cAc	p.R218H	JMJD1C_ENST00000489372.2_5'UTR|JMJD1C_ENST00000542921.1_Missense_Mutation_p.R36H|JMJD1C_ENST00000402544.1_5'UTR|JMJD1C_ENST00000399251.1_5'UTR	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	218					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)					GATCATGGTGCGGGTGAAGAG	0.373																																																0													113	109	110					10																	64976992		1848	4104	5952	SO:0001583	missense	221037			L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"thyroid hormone receptor interactor 8"	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.653G>A	chr10.hg19:g.64976992C>T	ENSP00000382204:p.Arg218His		A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	hg19	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.569375	0.65765	.	.	ENSG00000171988	ENST00000399262;ENST00000542921	T;T	0.13657	2.57;2.57	5.74	4.83	0.62350	.	0.255682	0.32578	U	0.005909	T	0.14013	0.0339	L	0.44542	1.39	0.80722	D	1	B	0.22541	0.071	B	0.14578	0.011	T	0.02519	-1.1147	10	0.49607	T	0.09	-5.1461	15.0302	0.71701	0.0:0.9309:0.0:0.0691	.	218	Q15652	JHD2C_HUMAN	H	218;36	ENSP00000382204:R218H;ENSP00000444682:R36H	ENSP00000382204:R218H	R	-	2	0	JMJD1C	64646998	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.696000	0.61774	2.707000	0.92482	0.557000	0.71058	CGC		0.373	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		T	64976992	C	T	64976992	3	4	667	1	0	0	0	0	1	0	0	0	7952	768	27	1	7057	1	JMJD1C	10	64976992	Missense_Mutation	SNP	C	TCGA-GL-A9DD-01A-11D-A36X-10	42114670	64976992	70557755	67	36514											
DDX21	9188	hgsc.bcm.edu	37	10	70734488	70734488	+	Missense_Mutation	SNP	A	A	C			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr10:70734488A>C	ENST00000354185.4	+	11	1829	c.1731A>C	c.(1729-1731)aaA>aaC	p.K577N		NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 21	577					ATP catabolic process (GO:0006200)|osteoblast differentiation (GO:0001649)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CTTCCAGCAAAGATGCCATCA	0.368																																																0													86	80	82					10																	70734488		2203	4300	6503	SO:0001583	missense	9188			U41387	CCDS31211.1, CCDS73144.1	10q21	2013-05-13	2012-02-23		ENSG00000165732	ENSG00000165732		"DEAD-boxes"	2744	protein-coding gene	gene with protein product		606357	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 21", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 21"			8614622, 18180292	Standard	NM_004728		Approved	RH-II/GU, GURDB	uc001jov.2	Q9NR30	OTTHUMG00000018366	ENST00000354185.4:c.1731A>C	chr10.hg19:g.70734488A>C	ENSP00000346120:p.Lys577Asn		B2RDL0|Q13436|Q5VX41|Q68D35	Missense_Mutation	SNP	ENST00000354185.4	hg19	CCDS31211.1	.	.	.	.	.	.	.	.	.	.	A	11.31	1.600031	0.28534	.	.	ENSG00000165732	ENST00000354185	T	0.18502	2.21	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.12860	0.0312	L	0.33293	1	0.48511	D	0.999665	B	0.24823	0.112	B	0.15870	0.014	T	0.09185	-1.0686	10	0.33141	T	0.24	-11.3454	10.2563	0.43399	0.7547:0.0:0.0:0.2453	.	577	Q9NR30	DDX21_HUMAN	N	577	ENSP00000346120:K577N	ENSP00000346120:K577N	K	+	3	2	DDX21	70404494	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.750000	0.38329	2.171000	0.68590	0.533000	0.62120	AAA		0.368	DDX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048374.1	NM_004728		C	70734488	A	C	70734488	3	2	667	1	0	0	0	0	1	0	0	0	4351	69	3	5	1773	5	DDX21	10	70734488	Missense_Mutation	SNP	A	TCGA-GL-A9DD-01A-11D-A36X-10	5757496	70734488	64800259	68	36515											
DNAJB12	54788	hgsc.bcm.edu	37	10	74114543	74114543	+	Missense_Mutation	SNP	T	T	C			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr10:74114543T>C	ENST00000444643.2	-	1	445	c.113A>G	c.(112-114)tAt>tGt	p.Y38C	DNAJB12_ENST00000461919.1_5'Flank|DNAJB12_ENST00000338820.3_Missense_Mutation_p.Y72C|DNAJB12_ENST00000394903.2_Missense_Mutation_p.Y72C			Q9NXW2	DJB12_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 12	38						integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|skin(1)	4						CGGCGTCGGATACAGCCGCTG	0.632																																																0													34	36	35					10																	74114543		2203	4300	6503	SO:0001583	missense	54788			AK000034	CCDS7316.2	10q22	2011-09-02			ENSG00000148719	ENSG00000148719		"Heat shock proteins / DNAJ (HSP40)"	14891	protein-coding gene	gene with protein product		608376				11147971	Standard	NM_001002762		Approved	DJ10, FLJ20027	uc001jta.2	Q9NXW2	OTTHUMG00000018436	ENST00000444643.2:c.113A>G	chr10.hg19:g.74114543T>C	ENSP00000403313:p.Tyr38Cys		B7Z7I3|Q9H6H0	Missense_Mutation	SNP	ENST00000444643.2	hg19		.	.	.	.	.	.	.	.	.	.	T	23.4	4.405711	0.83230	.	.	ENSG00000148719	ENST00000338820;ENST00000394903;ENST00000444643	T;T;T	0.19394	2.15;2.15;2.15	5.58	5.58	0.84498	.	0.058186	0.64402	D	0.000002	T	0.40473	0.1118	M	0.77103	2.36	0.43777	D	0.9963	D;D	0.60575	0.988;0.98	P;P	0.57548	0.823;0.671	T	0.35822	-0.9773	10	0.62326	D	0.03	-30.1516	10.6161	0.45451	0.1435:0.0:0.0:0.8565	.	38;38	Q9NXW2-2;Q9NXW2	.;DJB12_HUMAN	C	72;72;38	ENSP00000345575:Y72C;ENSP00000378363:Y72C;ENSP00000403313:Y38C	ENSP00000345575:Y72C	Y	-	2	0	DNAJB12	73784549	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	3.330000	0.52068	2.111000	0.64477	0.459000	0.35465	TAT		0.632	DNAJB12-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048581.2			C	74114543	T	C	74114543	3	2	667	1	0	0	0	0	1	0	0	0	4619	1406	49	3	1046	3	DNAJB12	10	74114543	Missense_Mutation	SNP	T	TCGA-GL-A9DD-01A-11D-A36X-10	3380055	74114543	61420204	69	36516											
CPN1	1369	hgsc.bcm.edu	37	10	101802229	101802229	+	Silent	SNP	T	T	C			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr10:101802229T>C	ENST00000370418.3	-	9	1583	c.1332A>G	c.(1330-1332)agA>agG	p.R444R		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	444					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)		TTTCTTTCTTTCTGGCTTGGG	0.542																																																0													96	84	88					10																	101802229		2203	4300	6503	SO:0001819	synonymous_variant	1369			X14329	CCDS7486.1	10q24.2	2012-02-10	2007-02-23		ENSG00000120054	ENSG00000120054	3.4.17.3		2312	protein-coding gene	gene with protein product	"anaphylatoxin inactivator", "arginine carboxypeptidase", "carboxypeptidase K", "kininase I", "lysine carboxypeptidase"	603103	"carboxypeptidase N, polypeptide 1, 50kD"			9628828, 2912725	Standard	NM_001308		Approved		uc001kql.2	P15169	OTTHUMG00000018896	ENST00000370418.3:c.1332A>G	chr10.hg19:g.101802229T>C			B1AP59	Silent	SNP	ENST00000370418.3	hg19	CCDS7486.1																																																																																				0.542	CPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049828.1	NM_001308		C	101802229	T	C	101802229	2	2	667	1	0	0	0	0	0	0	0	1	3811	1780	62	3		3	CPN1	10	101802229	Silent	SNP	T	TCGA-GL-A9DD-01A-11D-A36X-10	27687686	101802229	33732518	70	36517											
GPAM	57678	hgsc.bcm.edu	37	10	113924282	113924282	+	Splice_Site	SNP	C	C	A			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr10:113924282C>A	ENST00000348367.4	-	13	1505		c.e13+1		GPAM_ENST00000423155.1_Splice_Site|GPAM_ENST00000369425.1_Splice_Site			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial						acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|defense response to virus (GO:0051607)|fatty acid homeostasis (GO:0055089)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|interleukin-2 secretion (GO:0070970)|negative regulation of activation-induced cell death of T cells (GO:0070236)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of multicellular organism growth (GO:0040018)|regulation of cytokine secretion (GO:0050707)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		ACAAATTTTACCTTGAAGGAA	0.348																																					Ovarian(161;1017 2606 18293 52943)											0													56	57	57					10																	113924282		2203	4300	6503	SO:0001630	splice_region_variant	57678			AL832464	CCDS7570.1	10q25.3	2009-07-15			ENSG00000119927	ENSG00000119927			24865	protein-coding gene	gene with protein product	"glycerol-3-phosphate acyltransferase 1, mitochondrial"	602395				10997877, 8369314	Standard	NM_020918		Approved	KIAA1560, MGC26846, GPAT1	uc001kzp.3	Q9HCL2	OTTHUMG00000019055	ENST00000348367.4:c.1307+1G>T	chr10.hg19:g.113924282C>A			Q5VW51|Q86TA3	Splice_Site	SNP	ENST00000348367.4	hg19	CCDS7570.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.025850	0.75390	.	.	ENSG00000119927	ENST00000348367;ENST00000423155;ENST00000369425	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0238	0.86440	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GPAM	113914272	1.000000	0.71417	0.989000	0.46669	0.866000	0.49608	5.794000	0.69067	2.432000	0.82394	0.643000	0.83706	.		0.348	GPAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050377.1	NM_020918	Intron	A	113924282	C	A	113924282	5	1	667	1	0	0	0	0	0	0	1	0	6590	521	18	4	1218	4	GPAM	10	113924282	Splice_Site	SNP	C	TCGA-GL-A9DD-01A-11D-A36X-10	12122053	113924282	21610465	71	36518											
PIK3C2A	5286	hgsc.bcm.edu	37	11	17113603	17113603	+	Missense_Mutation	SNP	A	A	C			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr11:17113603A>C	ENST00000265970.7	-	29	4581	c.4582T>G	c.(4582-4584)Tgt>Ggt	p.C1528G	PIK3C2A_ENST00000531428.1_5'UTR|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.C1148G	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1528	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				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						AAGAAAGTACAAACAAGATCA	0.318																																																0													90	93	92					11																	17113603		2200	4294	6494	SO:0001583	missense	5286			Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"phosphoinositide-3-kinase, class 2, alpha polypeptide"			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.4582T>G	chr11.hg19:g.17113603A>C	ENSP00000265970:p.Cys1528Gly		B0LPH2|B4E2G4|Q14CQ9	Missense_Mutation	SNP	ENST00000265970.7	hg19	CCDS7824.1	.	.	.	.	.	.	.	.	.	.	A	18.03	3.532468	0.64972	.	.	ENSG00000011405	ENST00000265970;ENST00000540361	T;T	0.38722	1.12;1.12	5.85	5.85	0.93711	Phox homologous domain (5);	0.048833	0.85682	D	0.000000	T	0.30230	0.0758	N	0.08118	0	0.44890	D	0.9979	B;P	0.42584	0.214;0.784	B;B	0.42522	0.253;0.39	T	0.27872	-1.0061	10	0.59425	D	0.04	-5.6727	16.2473	0.82450	1.0:0.0:0.0:0.0	.	1148;1528	F5H2B0;O00443	.;P3C2A_HUMAN	G	1528;1148	ENSP00000265970:C1528G;ENSP00000438687:C1148G	ENSP00000265970:C1528G	C	-	1	0	PIK3C2A	17070179	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.854000	0.92228	2.238000	0.73509	0.533000	0.62120	TGT		0.318	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645		C	17113603	A	C	17113603	3	2	667	1	0	0	0	0	1	0	0	0	11911	130	5	5	494	5	PIK3C2A	11	17113603	Missense_Mutation	SNP	A	TCGA-GL-A9DD-01A-11D-A36X-10		17113603	117892913	72	36519											
FNBP4	23360	hgsc.bcm.edu	37	11	47745677	47745677	+	Silent	SNP	T	T	G			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr11:47745677T>G	ENST00000263773.5	-	14	2379	c.2367A>C	c.(2365-2367)atA>atC	p.I789I	Y_RNA_ENST00000363220.1_RNA	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	789						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						CTTTCCTCTTTATTCCTTTAG	0.428																																																0													126	126	126					11																	47745677		1874	4119	5993	SO:0001819	synonymous_variant	23360			BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.2367A>C	chr11.hg19:g.47745677T>G			Q9H985|Q9NT81|Q9Y2L7	Silent	SNP	ENST00000263773.5	hg19	CCDS41644.1																																																																																				0.428	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3			G	47745677	T	G	47745677	2	3	667	1	0	0	0	0	0	0	0	1	5969	1744	61	5		5	FNBP4	11	47745677	Silent	SNP	T	TCGA-GL-A9DD-01A-11D-A36X-10	30632074	47745677	87260839	73	36520											
WNK1	65125	hgsc.bcm.edu	37	12	1017829	1017829	+	Silent	SNP	G	G	C			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr12:1017829G>C	ENST00000315939.6	+	28	7663	c.7020G>C	c.(7018-7020)acG>acC	p.T2340T	WNK1_ENST00000537687.1_Silent_p.T2600T|WNK1_ENST00000535572.1_Silent_p.T2092T|WNK1_ENST00000530271.2_Silent_p.T2838T|WNK1_ENST00000340908.4_Silent_p.T1933T	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	2340					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)			GGAGTGGGACGGGTGGCCCAG	0.542																																					Colon(19;451 567 6672 12618 28860)											0													68	64	65					12																	1017829		2203	4300	6503	SO:0001819	synonymous_variant	65125			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 167"	605232	"protein kinase, lysine deficient 1", "hereditary sensory neuropathy, type II"	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.7020G>C	chr12.hg19:g.1017829G>C			A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Silent	SNP	ENST00000315939.6	hg19	CCDS8506.1																																																																																				0.542	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		C	1017829	G	C	1017829	2	2	667	1	0	0	0	0	0	0	0	1	17382	1103	39	4		4	WNK1	12	1017829	Silent	SNP	G	TCGA-GL-A9DD-01A-11D-A36X-10		1017829	132834066	74	36521											
ADCY6	112	hgsc.bcm.edu	37	12	49171962	49171964	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	GCT	GCT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr12:49171962_49171964delGCT	ENST00000307885.4	-	2	1635_1637	c.941_943delAGC	c.(940-945)cagcgc>cgc	p.Q314del	ADCY6_ENST00000552090.1_5'Flank|ADCY6_ENST00000357869.3_In_Frame_Del_p.Q314del|ADCY6_ENST00000550422.1_In_Frame_Del_p.Q314del	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	314					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)|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)|dopamine receptor signaling pathway (GO:0007212)|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)|negative regulation of neuron projection development (GO:0010977)|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)	cilium (GO:0005929)|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)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						AAGGCCTGGCGCTGAGACACCTC	0.631																																																0																																										SO:0001651	inframe_deletion	112				CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	4.6.1.1	"Adenylate cyclases"	237	protein-coding gene	gene with protein product		600294					Standard	NM_015270		Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.941_943delAGC	chr12.hg19:g.49171962_49171964delGCT	ENSP00000311405:p.Gln314del		Q9NR75|Q9UDB0	In_Frame_Del	DEL	ENST00000307885.4	hg19	CCDS8767.1																																																																																				0.631	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408863.1	NM_020983		-	49171964	GCT	-	49171962	7	5	667	1	0	1	0	1	0	0	0	0	298	1087	38	0	2643	0	ADCY6	12	49171962	In_Frame_Del	DEL	GCT	TCGA-GL-A9DD-01A-11D-A36X-10	48154133	49171962	84679933	75	36522											
CS	1431	hgsc.bcm.edu	37	12	56669848	56669848	+	Missense_Mutation	SNP	G	G	T			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr12:56669848G>T	ENST00000351328.3	-	7	910	c.720C>A	c.(718-720)ttC>ttA	p.F240L	CS_ENST00000548567.1_Missense_Mutation_p.F174L|CS_ENST00000542324.2_Missense_Mutation_p.F227L	NM_004077.2	NP_004068.2	O75390	CISY_HUMAN	citrate synthase	240					carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	citrate (Si)-synthase activity (GO:0004108)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	17		Myeloproliferative disorder(1001;0.000374)		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)		ACATGTTGGTGAAATTGTGAG	0.498																																																0													161	133	143					12																	56669848		2203	4300	6503	SO:0001583	missense	1431				CCDS8913.1	12q13.2	2012-10-02				ENSG00000062485	2.3.3.1		2422	protein-coding gene	gene with protein product		118950					Standard	NM_004077		Approved		uc001sks.1	O75390	OTTHUMG00000170344	ENST00000351328.3:c.720C>A	chr12.hg19:g.56669848G>T	ENSP00000342056:p.Phe240Leu		Q71UT9|Q7KZH0|Q96FZ8|Q9BWN8	Missense_Mutation	SNP	ENST00000351328.3	hg19	CCDS8913.1	.	.	.	.	.	.	.	.	.	.	G	19.75	3.886371	0.72410	.	.	ENSG00000062485	ENST00000548567;ENST00000351328;ENST00000542324	.	.	.	5.41	3.56	0.40772	Citrate synthase-like, large alpha subdomain (1);Citrate synthase-like, core (1);	0.000000	0.85682	D	0.000000	T	0.41236	0.1150	L	0.41573	1.285	0.58432	D	0.999999	P;B;B;B	0.36144	0.539;0.034;0.058;0.034	B;B;B;B	0.37508	0.252;0.074;0.106;0.06	T	0.14587	-1.0467	9	0.30854	T	0.27	-16.2635	8.3037	0.32029	0.2519:0.0:0.7481:0.0	.	174;227;195;240	B7Z1E1;B4DJV2;B3KTN4;O75390	.;.;.;CISY_HUMAN	L	174;240;227	.	ENSP00000342056:F240L	F	-	3	2	CS	54956115	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.240000	0.51368	0.753000	0.32945	0.555000	0.69702	TTC		0.498	CS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408588.2	NM_004077		T	56669848	G	T	56669848	3	4	667	1	0	0	0	0	1	0	0	0	3926	1281	45	4	700	4	CS	12	56669848	Missense_Mutation	SNP	G	TCGA-GL-A9DD-01A-11D-A36X-10	7497886	56669848	77182047	76	36523											
TMTC2	160335	hgsc.bcm.edu	37	12	83251151	83251151	+	Missense_Mutation	SNP	T	T	C			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr12:83251151T>C	ENST00000321196.3	+	2	1153	c.446T>C	c.(445-447)cTc>cCc	p.L149P	TMTC2_ENST00000549919.1_Missense_Mutation_p.L143P|TMTC2_ENST00000548305.1_Missense_Mutation_p.L149P	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	149					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						CTCTTCTTTCTCCTCTCCTTG	0.557																																																0													123	99	107					12																	83251151		2203	4300	6503	SO:0001583	missense	160335			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.446T>C	chr12.hg19:g.83251151T>C	ENSP00000322300:p.Leu149Pro		B2RCU7|Q8N2K8	Missense_Mutation	SNP	ENST00000321196.3	hg19	CCDS9025.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.008826	0.75046	.	.	ENSG00000179104	ENST00000321196;ENST00000548305;ENST00000549919	T;T;T	0.71698	0.03;-0.59;-0.05	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000001	D	0.88603	0.6481	H	0.95260	3.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.91786	0.5439	10	0.87932	D	0	-14.0917	14.6569	0.68838	0.0:0.0:0.0:1.0	.	149;149	Q8N394;F8VSH2	TMTC2_HUMAN;.	P	149;149;143	ENSP00000322300:L149P;ENSP00000448292:L149P;ENSP00000447609:L143P	ENSP00000322300:L149P	L	+	2	0	TMTC2	81775282	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.456000	0.80751	2.251000	0.74343	0.528000	0.53228	CTC		0.557	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405663.1	NM_152588		C	83251151	T	C	83251151	3	2	667	1	0	0	0	0	1	0	0	0	16266	1551	54	3	452	3	TMTC2	12	83251151	Missense_Mutation	SNP	T	TCGA-GL-A9DD-01A-11D-A36X-10	26581303	83251151	50600744	77	36524											
TBC1D4	9882	hgsc.bcm.edu	37	13	75898483	75898483	+	Silent	SNP	A	A	T			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr13:75898483A>T	ENST00000377636.3	-	11	2434	c.2088T>A	c.(2086-2088)ctT>ctA	p.L696L	TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000377625.2_Intron|TBC1D4_ENST00000431480.2_Silent_p.L696L	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	696	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)		GAAGACTTGGAAGACTGGAGG	0.418																																																0													129	136	134					13																	75898483		1900	4112	6012	SO:0001819	synonymous_variant	9882			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.2088T>A	chr13.hg19:g.75898483A>T			A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Silent	SNP	ENST00000377636.3	hg19	CCDS41901.1																																																																																				0.418	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1	NM_014832		T	75898483	A	T	75898483	2	4	667	1	0	0	0	0	0	0	0	1	15627	233	9	5		5	TBC1D4	13	75898483	Silent	SNP	A	TCGA-GL-A9DD-01A-11D-A36X-10		75898483	39271395	78	36525											
IRS2	8660	hgsc.bcm.edu	37	13	110437628	110437628	+	Missense_Mutation	SNP	T	T	A			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr13:110437628T>A	ENST00000375856.3	-	1	1287	c.773A>T	c.(772-774)gAg>gTg	p.E258V		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	258	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.				brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to glucose stimulus (GO:0071333)|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 metabolic process (GO:0006006)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid homeostasis (GO:0055088)|mammary gland development (GO:0030879)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of kinase activity (GO:0033673)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|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 metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mesenchymal cell proliferation (GO:0002053)|regulation of lipid metabolic process (GO:0019216)|response to glucose (GO:0009749)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			GCGGCCCACCTCGATGAAGAA	0.652																																					Melanoma(100;613 2409 40847)											0													11	12	12					13																	110437628		2186	4283	6469	SO:0001583	missense	8660			AB000732	CCDS9510.1	13q34	2013-01-10			ENSG00000185950	ENSG00000185950		"Pleckstrin homology (PH) domain containing"	6126	protein-coding gene	gene with protein product		600797				9312143	Standard	NM_003749		Approved		uc001vqv.3	Q9Y4H2	OTTHUMG00000017338	ENST00000375856.3:c.773A>T	chr13.hg19:g.110437628T>A	ENSP00000365016:p.Glu258Val		Q96RR2|Q9BZG0|Q9Y6I5	Missense_Mutation	SNP	ENST00000375856.3	hg19	CCDS9510.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.270350	0.80469	.	.	ENSG00000185950	ENST00000375856	T	0.71579	-0.58	3.61	3.61	0.41365	Pleckstrin homology-type (1);Insulin receptor substrate-1, PTB (4);	0.064380	0.64402	U	0.000013	D	0.82742	0.5103	M	0.81341	2.54	0.54753	D	0.999988	D	0.89917	1.0	D	0.91635	0.999	D	0.84437	0.0580	10	0.62326	D	0.03	-13.1799	11.3514	0.49589	0.0:0.0:0.0:1.0	.	258	Q9Y4H2	IRS2_HUMAN	V	258	ENSP00000365016:E258V	ENSP00000365016:E258V	E	-	2	0	IRS2	109235629	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	6.999000	0.76283	1.527000	0.49086	0.408000	0.27601	GAG		0.652	IRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045755.1	NM_003749		A	110437628	T	A	110437628	3	1	667	1	0	0	0	0	1	0	0	0	7843	1551	54	5	3251	5	IRS2	13	110437628	Missense_Mutation	SNP	T	TCGA-GL-A9DD-01A-11D-A36X-10	34539145	110437628	4732250	79	36526											
METTL3	56339	hgsc.bcm.edu	37	14	21969115	21969115	+	Missense_Mutation	SNP	C	C	G			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr14:21969115C>G	ENST00000298717.4	-	5	1207	c.1056G>C	c.(1054-1056)gaG>gaC	p.E352D		NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	352					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)		TAAGAGCAAGCTCCTGGCTTG	0.507																																																0													67	61	63					14																	21969115		2203	4300	6503	SO:0001583	missense	56339			AF014837	CCDS32044.1	14q11.1	2012-06-12			ENSG00000165819	ENSG00000165819	2.1.1.62		17563	protein-coding gene	gene with protein product	"N6-adenosine-methyltransferase 70 kDa subunit"	612472					Standard	XM_006720206		Approved	Spo8, M6A, MT-A70	uc001wbc.3	Q86U44	OTTHUMG00000168825	ENST00000298717.4:c.1056G>C	chr14.hg19:g.21969115C>G	ENSP00000298717:p.Glu352Asp		O14736|Q86V05|Q9HB32	Missense_Mutation	SNP	ENST00000298717.4	hg19	CCDS32044.1	.	.	.	.	.	.	.	.	.	.	C	12.20	1.867899	0.32977	.	.	ENSG00000165819	ENST00000298717	.	.	.	5.5	0.761	0.18448	.	0.047580	0.85682	D	0.000000	T	0.27419	0.0673	N	0.17082	0.46	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.03761	-1.1006	9	0.16896	T	0.51	-19.8692	4.8131	0.13353	0.0:0.3033:0.1686:0.5281	.	352	Q86U44	MTA70_HUMAN	D	352	.	ENSP00000298717:E352D	E	-	3	2	METTL3	21038955	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	0.640000	0.24705	0.251000	0.21505	0.655000	0.94253	GAG		0.507	METTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401227.1	NM_019852		G	21969115	C	G	21969115	3	3	667	1	0	0	0	0	1	0	0	0	9503	796	28	4	714	4	METTL3	14	21969115	Missense_Mutation	SNP	C	TCGA-GL-A9DD-01A-11D-A36X-10		21969115	85380425	80	36527											
SGPP1	81537	hgsc.bcm.edu	37	14	64194241	64194241	+	Missense_Mutation	SNP	T	T	A			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr14:64194241T>A	ENST00000247225.6	-	1	516	c.422A>T	c.(421-423)gAa>gTa	p.E141V		NM_030791.2	NP_110418.1	Q9BX95	SGPP1_HUMAN	sphingosine-1-phosphate phosphatase 1	141					extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway (GO:0097193)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate metabolic process (GO:0006668)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	sphingosine-1-phosphate phosphatase activity (GO:0042392)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	10				OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)		GTAGAAGAGTTCGTTGCCCAG	0.642																																																0													55	63	60					14																	64194241		2203	4300	6503	SO:0001583	missense	81537			AJ293294	CCDS9760.1	14q23.1	2003-09-17			ENSG00000126821	ENSG00000126821			17720	protein-coding gene	gene with protein product		612826				10859351	Standard	NM_030791		Approved		uc001xgj.3	Q9BX95	OTTHUMG00000029080	ENST00000247225.6:c.422A>T	chr14.hg19:g.64194241T>A	ENSP00000247225:p.Glu141Val		B2RAH0|Q9H189	Missense_Mutation	SNP	ENST00000247225.6	hg19	CCDS9760.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.637752	0.87760	.	.	ENSG00000126821	ENST00000247225	T	0.39056	1.1	4.67	3.49	0.39957	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.60011	0.2236	M	0.75447	2.3	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.57481	-0.7804	10	0.36615	T	0.2	4.0704	11.2511	0.49026	0.0:0.0:0.1538:0.8462	.	141	Q9BX95	SGPP1_HUMAN	V	141	ENSP00000247225:E141V	ENSP00000247225:E141V	E	-	2	0	SGPP1	63263994	1.000000	0.71417	0.972000	0.41901	0.986000	0.74619	7.914000	0.87478	0.601000	0.29879	0.379000	0.24179	GAA		0.642	SGPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072626.3	NM_030791		A	64194241	T	A	64194241	3	1	667	1	0	0	0	0	1	0	0	0	14225	1783	62	5	915	5	SGPP1	14	64194241	Missense_Mutation	SNP	T	TCGA-GL-A9DD-01A-11D-A36X-10	42225126	64194241	43155299	81	36528											
PCNX	22990	hgsc.bcm.edu	37	14	71518644	71518644	+	Missense_Mutation	SNP	T	T	A			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr14:71518644T>A	ENST00000304743.2	+	24	4938	c.4492T>A	c.(4492-4494)Tct>Act	p.S1498T	PCNX_ENST00000439984.3_Missense_Mutation_p.S1387T|PCNX_ENST00000238570.5_Missense_Mutation_p.S1498T	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1498						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)		GGCCTTCTTCTCTACTCCACT	0.428																																																0													198	188	191					14																	71518644		2203	4300	6503	SO:0001583	missense	22990			AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"pecanex-like 1 (Drosophila)"	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.4492T>A	chr14.hg19:g.71518644T>A	ENSP00000304192:p.Ser1498Thr		B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	hg19	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	T	17.92	3.507607	0.64410	.	.	ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984	T;T;T	0.13420	2.96;2.72;2.59	5.84	4.66	0.58398	.	0.049858	0.85682	D	0.000000	T	0.32376	0.0827	M	0.89095	3.005	0.58432	D	0.999999	P;D;P	0.62365	0.675;0.991;0.546	B;P;B	0.58331	0.13;0.837;0.097	T	0.52786	-0.8529	10	0.02654	T	1	.	13.0601	0.59002	0.0:0.0:0.1343:0.8657	.	1498;1387;1498	Q96RV3-3;B2RTR6;Q96RV3	.;.;PCX1_HUMAN	T	1498;1498;1387	ENSP00000304192:S1498T;ENSP00000238570:S1498T;ENSP00000396617:S1387T	ENSP00000238570:S1498T	S	+	1	0	PCNX	70588397	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.907000	0.69908	0.993000	0.38866	0.455000	0.32223	TCT		0.428	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		A	71518644	T	A	71518644	3	1	667	1	0	0	0	0	1	0	0	0	11593	1551	54	5	4586	5	PCNX	14	71518644	Missense_Mutation	SNP	T	TCGA-GL-A9DD-01A-11D-A36X-10	7324403	71518644	35830896	82	36529											
TRIP11	9321	hgsc.bcm.edu	37	14	92469868	92469876	+	In_Frame_Del	DEL	CTCTTGTAA	CTCTTGTAA	-	rs528054481		TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	CTCTTGTAA	CTCTTGTAA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr14:92469868_92469876delCTCTTGTAA	ENST00000267622.4	-	11	4817_4825	c.4444_4452delTTACAAGAG	c.(4444-4452)ttacaagagdel	p.LQE1482del		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1482					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)		TCATGTTAGTCTCTTGTAACGCTTGATAT	0.368			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)		Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	0																																										SO:0001651	inframe_deletion	9321			L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.4444_4452delTTACAAGAG	chr14.hg19:g.92469868_92469876delCTCTTGTAA	ENSP00000267622:p.Leu1482_Glu1484del		B2RUT2|O14689|O15154|O95949	In_Frame_Del	DEL	ENST00000267622.4	hg19	CCDS9899.1																																																																																				0.368	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			-	92469876	CTCTTGTAA	-	92469868	7	5	667	1	0	1	0	1	0	0	0	0	16560	912	32	0	1531	0	TRIP11	14	92469868	In_Frame_Del	DEL	CTCTTGTAA	TCGA-GL-A9DD-01A-11D-A36X-10	20951224	92469868	14879672	83	36530											
DDX24	57062	hgsc.bcm.edu	37	14	94527306	94527306	+	Missense_Mutation	SNP	T	T	G			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr14:94527306T>G	ENST00000330836.5	-	4	1481	c.1350A>C	c.(1348-1350)gaA>gaC	p.E450D	DDX24_ENST00000544005.1_Missense_Mutation_p.E200D|DDX24_ENST00000555054.1_Missense_Mutation_p.E407D	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	450	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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)		CTTTAATTAATTCCCACAGCC	0.468																																																0													95	94	94					14																	94527306		2203	4300	6503	SO:0001583	missense	57062			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.1350A>C	chr14.hg19:g.94527306T>G	ENSP00000328690:p.Glu450Asp		E7EMJ4|Q4V9L5	Missense_Mutation	SNP	ENST00000330836.5	hg19	CCDS9918.1	.	.	.	.	.	.	.	.	.	.	T	13.13	2.144094	0.37825	.	.	ENSG00000089737	ENST00000330836;ENST00000544005;ENST00000440370;ENST00000543787;ENST00000555054;ENST00000542247	T;T;T	0.03801	3.8;3.8;3.8	5.03	0.632	0.17705	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.049652	0.85682	D	0.000000	T	0.02649	0.0080	N	0.03084	-0.415	0.40889	D	0.984059	B	0.27264	0.173	B	0.35688	0.208	T	0.54609	-0.8268	10	0.29301	T	0.29	-2.3005	9.5849	0.39510	0.0:0.7044:0.0:0.2956	.	450	Q9GZR7	DDX24_HUMAN	D	450;200;395;76;407;407	ENSP00000328690:E450D;ENSP00000440623:E200D;ENSP00000452145:E407D	ENSP00000328690:E450D	E	-	3	2	DDX24	93597059	0.874000	0.30092	0.800000	0.32199	0.273000	0.26683	0.054000	0.14205	0.170000	0.19704	-0.993000	0.02533	GAA		0.468	DDX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412861.1	NM_020414		G	94527306	T	G	94527306	3	3	667	1	0	0	0	0	1	0	0	0	4353	1490	52	5	1253	5	DDX24	14	94527306	Missense_Mutation	SNP	T	TCGA-GL-A9DD-01A-11D-A36X-10	2057438	94527306	12822234	84	36531											
ADCY7	113	hgsc.bcm.edu	37	16	50325746	50325746	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr16:50325746C>T	ENST00000394697.2	+	4	815	c.475C>T	c.(475-477)Ctc>Ttc	p.L159F	ADCY7_ENST00000564044.1_Intron|ADCY7_ENST00000537579.1_Missense_Mutation_p.L159F|ADCY7_ENST00000566433.2_Missense_Mutation_p.L159F|ADCY7_ENST00000538642.1_Missense_Mutation_p.L159F|ADCY7_ENST00000254235.3_Missense_Mutation_p.L159F			P51828	ADCY7_HUMAN	adenylate cyclase 7	159					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)		TGCCTCCCACCTCCTGGTGCT	0.622																																																0													86	78	81					16																	50325746		2198	4300	6498	SO:0001583	missense	113			D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"Adenylate cyclases"	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.475C>T	chr16.hg19:g.50325746C>T	ENSP00000378187:p.Leu159Phe		A0AVA6	Missense_Mutation	SNP	ENST00000394697.2	hg19	CCDS10741.1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.632511	0.67015	.	.	ENSG00000121281	ENST00000538642;ENST00000394697;ENST00000537579;ENST00000254235	T;D;T;D	0.83591	-1.23;-1.74;-1.23;-1.74	4.03	4.03	0.46877	.	0.221259	0.22600	U	0.057965	T	0.79233	0.4411	L	0.54323	1.7	0.37366	D	0.911421	B;B	0.23058	0.005;0.079	B;B	0.29176	0.009;0.099	T	0.80013	-0.1560	10	0.52906	T	0.07	.	10.0746	0.42353	0.3531:0.6469:0.0:0.0	.	159;159	P51828;F5H4D1	ADCY7_HUMAN;.	F	159	ENSP00000445046:L159F;ENSP00000378187:L159F;ENSP00000437788:L159F;ENSP00000254235:L159F	ENSP00000254235:L159F	L	+	1	0	ADCY7	48883247	0.989000	0.36119	1.000000	0.80357	0.648000	0.38561	3.071000	0.50041	2.231000	0.72958	0.561000	0.74099	CTC		0.622	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256877.3			T	50325746	C	T	50325746	3	4	667	1	0	0	0	0	1	0	0	0	299	681	24	2	485	2	ADCY7	16	50325746	Missense_Mutation	SNP	C	TCGA-GL-A9DD-01A-11D-A36X-10		50325746	40029007	85	36532											
TSR1	55720	hgsc.bcm.edu	37	17	2238104	2238110	+	Frame_Shift_Del	DEL	AGCGCTT	AGCGCTT	-	rs139020440|rs140750763		TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	AGCGCTT	AGCGCTT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr17:2238104_2238110delAGCGCTT	ENST00000301364.5	-	5	1716_1722	c.637_643delAAGCGCT	c.(637-645)aagcgctttfs	p.KRF213fs	SGSM2_ENST00000268989.3_5'Flank|TSR1_ENST00000576112.2_Frame_Shift_Del_p.KRF197fs|SGSM2_ENST00000426855.2_5'Flank|SGSM2_ENST00000574563.1_5'Flank	NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)	213	Bms1-type G.				ribosome assembly (GO:0042255)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						TCATGCGGAAAGCGCTTCTCCACTGCT	0.478																																																0																																										SO:0001589	frameshift_variant	55720			AK026565	CCDS32525.1	17p13.3	2006-04-20	2006-04-20			ENSG00000167721			25542	protein-coding gene	gene with protein product		611214	"TSR1, 20S rRNA accumulation, homolog (yeast)"			10718198	Standard	NM_018128		Approved	FLJ10534	uc002fuj.3	Q2NL82		ENST00000301364.5:c.637_643delAAGCGCT	chr17.hg19:g.2238104_2238110delAGCGCTT	ENSP00000301364:p.Lys213fs		Q8WUY5|Q9NVT0|Q9P2E6	Frame_Shift_Del	DEL	ENST00000301364.5	hg19	CCDS32525.1																																																																																				0.478	TSR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438180.2	NM_018128		-	2238110	AGCGCTT	-	2238104	7	5	667	1	0	1	0	1	0	0	0	0	16669	72	3	0	1815	0	TSR1	17	2238104	Frame_Shift_Del	DEL	AGCGCTT	TCGA-GL-A9DD-01A-11D-A36X-10		2238104	78957106	86	36533											
ASGR2	433	hgsc.bcm.edu	37	17	7011820	7011820	+	Missense_Mutation	SNP	A	A	T			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr17:7011820A>T	ENST00000380952.2	-	4	577	c.313T>A	c.(313-315)Tcg>Acg	p.S105T	ASGR2_ENST00000446679.2_Missense_Mutation_p.S86T|ASGR2_ENST00000254850.7_Missense_Mutation_p.S81T|ASGR2_ENST00000355035.5_Missense_Mutation_p.S105T	NM_001181.4|NM_001201352.1|NM_080912.3	NP_001172|NP_001188281.1|NP_550434	P07307	ASGR2_HUMAN	asialoglycoprotein receptor 2	105					bone mineralization (GO:0030282)|cell surface receptor signaling pathway (GO:0007166)|glycoprotein metabolic process (GO:0009100)|lipid homeostasis (GO:0055088)|receptor-mediated endocytosis (GO:0006898)|regulation of protein stability (GO:0031647)	integral component of membrane (GO:0016021)	asialoglycoprotein receptor activity (GO:0004873)|carbohydrate binding (GO:0030246)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18					Antihemophilic Factor(DB00025)	AGGGTGCTCGAGGAGAAGTTG	0.622																																																0													68	56	60					17																	7011820		2203	4300	6503	SO:0001583	missense	433			M11025	CCDS11088.1, CCDS32544.1, CCDS45598.1	17p	2011-08-30			ENSG00000161944	ENSG00000161944		"C-type lectin domain containing"	743	protein-coding gene	gene with protein product		108361				3863106	Standard	NM_080912		Approved	CLEC4H2	uc002ger.3	P07307	OTTHUMG00000102158	ENST00000380952.2:c.313T>A	chr17.hg19:g.7011820A>T	ENSP00000370339:p.Ser105Thr		A6NLV8|A8MT12|D3DTM9|D3DTN0|O00448|Q03969	Missense_Mutation	SNP	ENST00000380952.2	hg19	CCDS32544.1	.	.	.	.	.	.	.	.	.	.	A	12.58	1.979766	0.34942	.	.	ENSG00000161944	ENST00000355035;ENST00000254850;ENST00000380952;ENST00000446679;ENST00000450034	T;T;T;T	0.22134	1.97;1.97;1.97;1.97	2.9	-1.2	0.09554	Hepatic lectin, N-terminal (1);	1.161450	0.06753	N	0.780358	T	0.15955	0.0384	L	0.32530	0.975	0.09310	N	1	P;B;P;B;B;P	0.35307	0.476;0.041;0.494;0.314;0.439;0.494	B;B;B;B;B;B	0.39935	0.145;0.011;0.314;0.248;0.209;0.314	T	0.33828	-0.9853	10	0.25106	T	0.35	.	4.3131	0.10979	0.3967:0.4057:0.0:0.1976	.	81;81;105;100;86;105	B4E1D2;P07307-3;P07307;Q7Z4G9;P07307-2;D3DTN0	.;.;ASGR2_HUMAN;.;.;.	T	105;81;105;86;81	ENSP00000347140:S105T;ENSP00000254850:S81T;ENSP00000370339:S105T;ENSP00000405844:S86T	ENSP00000254850:S81T	S	-	1	0	ASGR2	6952544	0.003000	0.15002	0.065000	0.19835	0.437000	0.31866	-0.242000	0.08928	-0.275000	0.09219	0.438000	0.28831	TCG		0.622	ASGR2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000220003.1	NM_080914		T	7011820	A	T	7011820	3	4	667	1	0	0	0	0	1	0	0	0	1040	304	11	5	646	5	ASGR2	17	7011820	Missense_Mutation	SNP	A	TCGA-GL-A9DD-01A-11D-A36X-10	4773716	7011820	74183390	87	36534											
KSR1	8844	hgsc.bcm.edu	37	17	25919630	25919630	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr17:25919630delT	ENST00000319524.6	+	9	1277	c.1277delT	c.(1276-1278)ctcfs	p.L426fs	KSR1_ENST00000581975.1_3'UTR|KSR1_ENST00000398988.3_Frame_Shift_Del_p.L289fs|KSR1_ENST00000268763.6_Frame_Shift_Del_p.L289fs|KSR1_ENST00000509603.2_Frame_Shift_Del_p.L426fs			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	426					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)		TTTGGAACCCTCCCCAAAGCA	0.562																																					Esophageal Squamous(88;1120 1336 6324 10502 16832)											0													69	69	69					17																	25919630		1911	4122	6033	SO:0001589	frameshift_variant	8844			U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068			6465	protein-coding gene	gene with protein product		601132	"kinase suppressor of ras"	KSR		8521512	Standard	XM_006722151		Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000319524.6:c.1277delT	chr17.hg19:g.25919630delT	ENSP00000323178:p.Leu426fs		F8WEA9|H7BYU0|Q13476	Frame_Shift_Del	DEL	ENST00000319524.6	hg19																																																																																					0.562	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_014238		-	25919630	T	-	25919630	7	5	667	1	0	1	0	1	0	0	0	0	8583	1551	54	0	888	0	KSR1	17	25919630	Frame_Shift_Del	DEL	T	TCGA-GL-A9DD-01A-11D-A36X-10	18907810	25919630	55275580	88	36535											
TMEM97	27346	hgsc.bcm.edu	37	17	26646334	26646334	+	Silent	SNP	C	C	A	rs369813368		TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr17:26646334C>A	ENST00000226230.6	+	1	214	c.69C>A	c.(67-69)ccC>ccA	p.P23P	TMEM97_ENST00000582113.1_Silent_p.P23P|TMEM97_ENST00000336687.6_5'Flank|TMEM97_ENST00000583381.1_Intron	NM_014573.2	NP_055388.2	Q5BJF2	TMM97_HUMAN	transmembrane protein 97	23					cholesterol homeostasis (GO:0042632)|regulation of cell growth (GO:0001558)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)				endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	6	all_lung(13;0.000238)|Lung NSC(42;0.000789)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		GCCACATCCCCATCACCCTGT	0.677																																																0													27	34	31					17																	26646334		2045	4160	6205	SO:0001819	synonymous_variant	27346			BC091504	CCDS11226.2	17q11.2	2014-01-28			ENSG00000109084	ENSG00000109084			28106	protein-coding gene	gene with protein product		612912				7694637, 15375745	Standard	NM_014573		Approved	MAC30	uc002hat.3	Q5BJF2	OTTHUMG00000132497	ENST00000226230.6:c.69C>A	chr17.hg19:g.26646334C>A			B4DS02|Q07823	Silent	SNP	ENST00000226230.6	hg19	CCDS11226.2																																																																																				0.677	TMEM97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255675.2	NM_014573		A	26646334	C	A	26646334	2	1	667	1	0	0	0	0	0	0	0	1	16229	581	21	4		4	TMEM97	17	26646334	Silent	SNP	C	TCGA-GL-A9DD-01A-11D-A36X-10	726704	26646334	54548876	89	36536											
EXOC7	23265	hgsc.bcm.edu	37	17	74090635	74090635	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr17:74090635C>T	ENST00000335146.7	-	6	721	c.668G>A	c.(667-669)cGc>cAc	p.R223H	EXOC7_ENST00000405575.4_Missense_Mutation_p.R223H|EXOC7_ENST00000607838.1_Missense_Mutation_p.R223H|EXOC7_ENST00000589210.1_Missense_Mutation_p.R223H|EXOC7_ENST00000411744.2_Missense_Mutation_p.R223H|EXOC7_ENST00000467929.2_Missense_Mutation_p.R182H|EXOC7_ENST00000332065.5_Missense_Mutation_p.R223H			Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	223					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			CTGGCTGGAGCGTATCTGGTA	0.547																																																0													125	120	121					17																	74090635		2203	4300	6503	SO:0001583	missense	23265			BC029432	CCDS11741.1, CCDS32738.1, CCDS45781.1, CCDS45782.1, CCDS45784.1, CCDS74164.1	17q25.3	2013-01-22			ENSG00000182473	ENSG00000182473			23214	protein-coding gene	gene with protein product		608163				12477932	Standard	NM_001013839		Approved	EXO70, KIAA1067, YJL085W, Exo70p	uc010wsw.2	Q9UPT5	OTTHUMG00000150720	ENST00000335146.7:c.668G>A	chr17.hg19:g.74090635C>T	ENSP00000334100:p.Arg223His		B5MC69|B8XXP2|Q8ND93|Q8WV91|Q96FF0|Q9H8C3|Q9H9X3|Q9HA32	Missense_Mutation	SNP	ENST00000335146.7	hg19	CCDS45782.1	.	.	.	.	.	.	.	.	.	.	C	35	5.431701	0.96150	.	.	ENSG00000182473	ENST00000332065;ENST00000351709;ENST00000405575;ENST00000335146;ENST00000357231;ENST00000425372;ENST00000411744;ENST00000405068;ENST00000420116	.	.	.	4.84	4.84	0.62591	Cullin repeat-like-containing domain (1);	0.054405	0.64402	D	0.000001	T	0.68035	0.2957	L	0.36672	1.1	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	0.999;1.0;0.993;0.998;1.0;0.999;1.0;1.0	T	0.71424	-0.4597	9	0.87932	D	0	-17.4317	16.2936	0.82761	0.0:1.0:0.0:0.0	.	223;223;182;182;223;223;223;223	Q9UPT5-5;Q9UPT5-6;B4DJ07;F5H1P1;Q9UPT5-4;Q9UPT5;Q9UPT5-2;Q9UPT5-1	.;.;.;.;.;EXOC7_HUMAN;.;.	H	223;143;223;223;223;182;223;223;108	.	ENSP00000333806:R223H	R	-	2	0	EXOC7	71602230	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.284000	0.78650	2.508000	0.84585	0.557000	0.71058	CGC		0.547	EXOC7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000319768.2	NM_015219		T	74090635	C	T	74090635	3	4	667	1	0	0	0	0	1	0	0	0	5312	768	27	1	1599	1	EXOC7	17	74090635	Missense_Mutation	SNP	C	TCGA-GL-A9DD-01A-11D-A36X-10	47444301	74090635	7104575	90	36537											
FOXJ1	2302	hgsc.bcm.edu	37	17	74136299	74136299	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr17:74136299delG	ENST00000322957.6	-	2	532	c.178delC	c.(178-180)cacfs	p.H60fs	RNF157_ENST00000589912.1_5'Flank|RNF157-AS1_ENST00000586627.1_RNA|RNF157-AS1_ENST00000585542.1_RNA|RNF157-AS1_ENST00000590137.1_RNA	NM_001454.3	NP_001445.2	Q92949	FOXJ1_HUMAN	forkhead box J1	60					actin cytoskeleton organization (GO:0030036)|activation of Rho GTPase activity (GO:0032862)|brain development (GO:0007420)|central tolerance induction (GO:0002508)|cilium assembly (GO:0042384)|epithelium development (GO:0060429)|establishment of apical/basal cell polarity (GO:0035089)|glomerular parietal epithelial cell development (GO:0072016)|humoral immune response (GO:0006959)|left/right pattern formation (GO:0060972)|leukocyte migration (GO:0050900)|lung epithelium development (GO:0060428)|metanephric part of ureteric bud development (GO:0035502)|negative regulation of B cell activation (GO:0050869)|negative regulation of germinal center formation (GO:0002635)|negative regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002924)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pattern specification process (GO:0007389)|positive regulation of central B cell tolerance induction (GO:0002897)|positive regulation of lung ciliated cell differentiation (GO:1901248)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(166;0.187)			TGGTAGCCGTGGGGGTCGGTG	0.736																																																0													3	5	4					17																	74136299		1712	3354	5066	SO:0001589	frameshift_variant	2302			X99349	CCDS32739.1	17q25.1	2008-05-14				ENSG00000129654		"Forkhead boxes"	3816	protein-coding gene	gene with protein product		602291		FKHL13		9073514, 16518568	Standard	NM_001454		Approved	HFH-4, HFH4	uc002jqx.3	Q92949		ENST00000322957.6:c.178delC	chr17.hg19:g.74136299delG	ENSP00000323880:p.His60fs		O00630	Frame_Shift_Del	DEL	ENST00000322957.6	hg19	CCDS32739.1																																																																																				0.736	FOXJ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449856.1	NM_001454		-	74136299	G	-	74136299	7	5	667	1	0	1	0	1	0	0	0	0	6013	1348	47	0	1095	0	FOXJ1	17	74136299	Frame_Shift_Del	DEL	G	TCGA-GL-A9DD-01A-11D-A36X-10	45664	74136299	7058911	91	36538											
AFG3L2	10939	hgsc.bcm.edu	37	18	12329586	12329586	+	Missense_Mutation	SNP	G	G	A	rs372136184		TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr18:12329586G>A	ENST00000269143.3	-	17	2603	c.2372C>T	c.(2371-2373)cCg>cTg	p.P791L	TUBB6_ENST00000590967.1_Intron|TUBB6_ENST00000591909.1_3'UTR	NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	791					axonogenesis (GO:0007409)|cell death (GO:0008219)|cristae formation (GO:0042407)|mitochondrial fusion (GO:0008053)|mitochondrial protein processing (GO:0034982)|muscle fiber development (GO:0048747)|myelination (GO:0042552)|nerve development (GO:0021675)|neuromuscular junction development (GO:0007528)|regulation of multicellular organism growth (GO:0040014)|righting reflex (GO:0060013)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	TTTCTCACCCGGGGGCTCCTC	0.532																																																0								G	LEU/PRO	0,4406		0,0,2203	73	83	80		2372	1.8	0	18		80	1,8599	1.2+/-3.3	0,1,4299	no	missense	AFG3L2	NM_006796.2	98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	791/798	12329586	1,13005	2203	4300	6503	SO:0001583	missense	10939			Y18314	CCDS11859.1	18p11.21	2014-09-17	2013-10-17		ENSG00000141385	ENSG00000141385		"ATPases / AAA-type"	315	protein-coding gene	gene with protein product		604581	"AFG3 (ATPase family gene 3, yeast)-like 2", "spinocerebellar ataxia 28", "AFG3 ATPase family gene 3-like 2 (yeast)", "AFG3 ATPase family gene 3-like 2 (S. cerevisiae)", "AFG3 ATPase family member 3-like 2 (S. cerevisiae)"	SCA28		10395799, 18769991	Standard	NM_006796		Approved	SPAX5	uc002kqz.2	Q9Y4W6	OTTHUMG00000131695	ENST00000269143.3:c.2372C>T	chr18.hg19:g.12329586G>A	ENSP00000269143:p.Pro791Leu		Q6P1L0	Missense_Mutation	SNP	ENST00000269143.3	hg19	CCDS11859.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.172684	0.57584	0.0	1.16E-4	ENSG00000141385	ENST00000269143;ENST00000537174	D	0.92595	-3.07	5.56	1.75	0.24633	.	2.193060	0.01444	N	0.015203	D	0.87442	0.6178	L	0.34521	1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.71537	-0.4563	10	0.44086	T	0.13	1.1635	4.8492	0.13528	0.1341:0.1195:0.6226:0.1238	.	791	Q9Y4W6	AFG32_HUMAN	L	791;806	ENSP00000269143:P791L	ENSP00000269143:P791L	P	-	2	0	AFG3L2	12319586	0.000000	0.05858	0.000000	0.03702	0.924000	0.55760	0.652000	0.24888	0.100000	0.17581	0.655000	0.94253	CCG		0.532	AFG3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254603.2	NM_006796		A	12329586	G	A	12329586	3	1	667	1	0	0	0	0	1	0	0	0	360	1116	39	1	25	1	AFG3L2	18	12329586	Missense_Mutation	SNP	G	TCGA-GL-A9DD-01A-11D-A36X-10		12329586	65747662	92	36539											
ZNF627	199692	hgsc.bcm.edu	37	19	11728063	11728063	+	Frame_Shift_Del	DEL	A	A	-			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr19:11728063delA	ENST00000361113.5	+	4	953	c.745delA	c.(745-747)aaafs	p.K249fs	ZNF627_ENST00000588174.1_3'UTR	NM_145295.3	NP_660338.1	Q7L945	ZN627_HUMAN	zinc finger protein 627	249					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						CACTGGAGATAAACCCTATGA	0.418																																					Melanoma(112;173 1614 10731 17751 23322)											0													56	59	58					19																	11728063		2203	4299	6502	SO:0001589	frameshift_variant	199692			AK074846	CCDS42502.1	19p13.2	2013-01-08				ENSG00000198551		"Zinc fingers, C2H2-type", "-"	30570	protein-coding gene	gene with protein product		612248				12477932	Standard	NM_145295		Approved	FLJ90365	uc002msk.2	Q7L945		ENST00000361113.5:c.745delA	chr19.hg19:g.11728063delA	ENSP00000354414:p.Lys249fs		O14846|Q4KMP9|Q6NT81|Q9BRG4	Frame_Shift_Del	DEL	ENST00000361113.5	hg19	CCDS42502.1																																																																																				0.418	ZNF627-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458875.1	NM_145295		-	11728063	A	-	11728063	7	5	667	1	0	1	0	1	0	0	0	0	18056	363	13	0	759	0	ZNF627	19	11728063	Frame_Shift_Del	DEL	A	TCGA-GL-A9DD-01A-11D-A36X-10		11728063	47400920	93	36540											
ILVBL	10994	hgsc.bcm.edu	37	19	15226999	15226999	+	Missense_Mutation	SNP	C	C	G			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr19:15226999C>G	ENST00000263383.3	-	12	1574	c.1435G>C	c.(1435-1437)Gta>Cta	p.V479L	ILVBL_ENST00000534378.1_Missense_Mutation_p.V372L	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	479	Thiamine pyrophosphate binding. {ECO:0000250}.					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						CGGGGCTGTACCAGATGGGCA	0.652																																																0													81	71	74					19																	15226999		2203	4300	6503	SO:0001583	missense	10994			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.1435G>C	chr19.hg19:g.15226999C>G	ENSP00000263383:p.Val479Leu		O43341|Q96F08|Q99651|Q9BWN5|Q9UEB2	Missense_Mutation	SNP	ENST00000263383.3	hg19	CCDS12325.1	.	.	.	.	.	.	.	.	.	.	C	3.360	-0.130703	0.06753	.	.	ENSG00000105135	ENST00000263383	T	0.36340	1.26	5.22	4.19	0.49359	Thiamine pyrophosphate enzyme, C-terminal TPP-binding (1);	0.252402	0.42294	D	0.000726	T	0.20007	0.0481	N	0.12422	0.21	0.40211	D	0.977625	B	0.20671	0.047	B	0.26094	0.066	T	0.07290	-1.0780	10	0.16896	T	0.51	-17.1147	9.8081	0.40805	0.0:0.9045:0.0:0.0955	.	479	A1L0T0	ILVBL_HUMAN	L	479	ENSP00000263383:V479L	ENSP00000263383:V479L	V	-	1	0	ILVBL	15087999	1.000000	0.71417	0.998000	0.56505	0.072000	0.16883	1.307000	0.33516	1.209000	0.43321	-0.258000	0.10820	GTA		0.652	ILVBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385439.1	NM_006844		G	15226999	C	G	15226999	3	3	667	1	0	0	0	0	1	0	0	0	7717	507	18	4	483	4	ILVBL	19	15226999	Missense_Mutation	SNP	C	TCGA-GL-A9DD-01A-11D-A36X-10	3498936	15226999	43901984	94	36541											
PGLYRP2	114770	hgsc.bcm.edu	37	19	15587251	15587251	+	Missense_Mutation	SNP	T	T	A			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr19:15587251T>A	ENST00000340880.4	-	2	710	c.230A>T	c.(229-231)aAt>aTt	p.N77I	PGLYRP2_ENST00000292609.4_Missense_Mutation_p.N77I	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	77					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						CTCTGTAGCATTGAGGCTCCA	0.582																																																0													108	78	89					19																	15587251		2203	4300	6503	SO:0001583	missense	114770			AY358156	CCDS12330.2	19p13.12	2010-04-27			ENSG00000161031	ENSG00000161031	3.5.1.28		30013	protein-coding gene	gene with protein product	"peptidoglycan recognition protein L precursor", "peptidoglycan recognition protein-like", "N-acetylmuramoyl-L-alanine amidase"	608199				11461926, 12669421, 14506276	Standard	NM_052890		Approved	PGRP-L, PGLYRPL, TAGL-like, tagL, tagL-alpha, tagl-beta, PGRPL	uc002nbf.4	Q96PD5	OTTHUMG00000150690	ENST00000340880.4:c.230A>T	chr19.hg19:g.15587251T>A	ENSP00000345968:p.Asn77Ile		A8K050|A8K8C7|B2RMZ2|B7ZM33|Q68CK1|Q96N74|Q9UC60	Missense_Mutation	SNP	ENST00000340880.4	hg19	CCDS12330.2	.	.	.	.	.	.	.	.	.	.	T	11.16	1.555531	0.27739	.	.	ENSG00000161031	ENST00000340880;ENST00000292609	T;T	0.05081	3.53;3.5	5.27	0.412	0.16397	.	3.618340	0.00864	N	0.001941	T	0.06234	0.0161	L	0.44542	1.39	0.09310	N	1	P;B	0.44946	0.846;0.412	B;B	0.37888	0.26;0.053	T	0.26052	-1.0114	10	0.66056	D	0.02	-8.1911	0.6612	0.00843	0.1668:0.1881:0.1728:0.4723	.	77;77	Q96PD5-2;Q96PD5	.;PGRP2_HUMAN	I	77	ENSP00000345968:N77I;ENSP00000292609:N77I	ENSP00000292609:N77I	N	-	2	0	PGLYRP2	15448251	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.187000	0.16998	0.006000	0.14734	-0.376000	0.06991	AAT		0.582	PGLYRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319626.1	NM_052890		A	15587251	T	A	15587251	3	1	667	1	0	0	0	0	1	0	0	0	11796	1493	52	5	1516	5	PGLYRP2	19	15587251	Missense_Mutation	SNP	T	TCGA-GL-A9DD-01A-11D-A36X-10	360252	15587251	43541732	95	36542											
NR2F6	2063	hgsc.bcm.edu	37	19	17343235	17343235	+	Missense_Mutation	SNP	G	G	A			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr19:17343235G>A	ENST00000291442.3	-	4	1860	c.1141C>T	c.(1141-1143)Ccc>Tcc	p.P381S		NM_005234.3	NP_005225.2	P10588	NR2F6_HUMAN	nuclear receptor subfamily 2, group F, member 6	381	Important for dimerization. {ECO:0000250}.|Ligand-binding. {ECO:0000250}.				detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|entrainment of circadian clock by photoperiod (GO:0043153)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron development (GO:0048666)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|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)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	5						GTCTCAATGGGCGTCTTCCCC	0.667																																																0													70	62	65					19																	17343235		2203	4300	6503	SO:0001583	missense	2063			X12794	CCDS12352.1	19p13.11	2013-09-20			ENSG00000160113	ENSG00000160113		"Nuclear hormone receptors"	7977	protein-coding gene	gene with protein product		132880		ERBAL2		2905047	Standard	NM_005234		Approved	EAR-2	uc002nfq.3	P10588	OTTHUMG00000182728	ENST00000291442.3:c.1141C>T	chr19.hg19:g.17343235G>A	ENSP00000291442:p.Pro381Ser		B2RC68|Q5XGA0|Q6P586|Q9BUE8	Missense_Mutation	SNP	ENST00000291442.3	hg19	CCDS12352.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.536811	0.85812	.	.	ENSG00000160113	ENST00000291442;ENST00000536940	T	0.52983	0.64	4.71	4.71	0.59529	Nuclear hormone receptor, ligand-binding (2);	0.000000	0.85682	D	0.000000	T	0.64136	0.2571	L	0.55213	1.73	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67845	-0.5565	10	0.87932	D	0	.	15.175	0.72903	0.0:0.0:1.0:0.0	.	381	P10588	NR2F6_HUMAN	S	381;354	ENSP00000291442:P381S	ENSP00000291442:P381S	P	-	1	0	NR2F6	17204235	1.000000	0.71417	0.999000	0.59377	0.865000	0.49528	9.658000	0.98594	2.168000	0.68352	0.555000	0.69702	CCC		0.667	NR2F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463325.1			A	17343235	G	A	17343235	3	1	667	1	0	0	0	0	1	0	0	0	10631	1203	42	2	77	2	NR2F6	19	17343235	Missense_Mutation	SNP	G	TCGA-GL-A9DD-01A-11D-A36X-10	1755984	17343235	41785748	96	36543											
ZNF91	7644	hgsc.bcm.edu	37	19	23544826	23544826	+	Missense_Mutation	SNP	C	C	G			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr19:23544826C>G	ENST00000300619.7	-	4	1160	c.955G>C	c.(955-957)Gag>Cag	p.E319Q	ZNF91_ENST00000397082.2_Missense_Mutation_p.E287Q|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	319					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)				TAGGGTTTCTCTCCAGTATGA	0.398																																																0													66	70	69					19																	23544826		2141	4273	6414	SO:0001583	missense	7644			M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"Zinc fingers, C2H2-type", "-"	13166	protein-coding gene	gene with protein product		603971	"zinc finger protein 91 (HPF7, HTF10)"			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.955G>C	chr19.hg19:g.23544826C>G	ENSP00000300619:p.Glu319Gln		A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	hg19	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	C	14.48	2.548805	0.45383	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.25912	1.77;1.77	1.97	0.778	0.18543	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.25121	0.0610	L	0.49571	1.57	0.26282	N	0.978262	P;P	0.47409	0.895;0.589	B;B	0.43536	0.423;0.419	T	0.12502	-1.0545	9	0.72032	D	0.01	.	9.033	0.36271	0.0:0.7693:0.2307:0.0	.	287;319	Q05481-2;Q05481	.;ZNF91_HUMAN	Q	319;287	ENSP00000300619:E319Q;ENSP00000380272:E287Q	ENSP00000300619:E319Q	E	-	1	0	ZNF91	23336666	0.003000	0.15002	0.001000	0.08648	0.024000	0.10985	0.998000	0.29744	0.126000	0.18424	0.162000	0.16502	GAG		0.398	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		G	23544826	C	G	23544826	3	3	667	1	0	0	0	0	1	0	0	0	18205	922	32	4	2624	4	ZNF91	19	23544826	Missense_Mutation	SNP	C	TCGA-GL-A9DD-01A-11D-A36X-10	6201591	23544826	35584157	97	36544											
SFRS16	11129	hgsc.bcm.edu	37	19	45555367	45555367	+	Silent	SNP	A	A	C			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr19:45555367A>C	ENST00000221455.3	+	3	236	c.138A>C	c.(136-138)cgA>cgC	p.R46R	CLASRP_ENST00000544944.2_Silent_p.R46R|CLASRP_ENST00000391953.4_Intron	NM_007056.2	NP_008987	Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	46					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						TACATGGCCGAGCTTGCAAGG	0.572																																																0													99	91	94					19																	45555367		2203	4300	6503	SO:0001819	synonymous_variant	11129			AF042800	CCDS12652.2, CCDS62710.1	19q13.3	2010-09-21	2010-09-21	2010-09-21	ENSG00000104859	ENSG00000104859			17731	protein-coding gene	gene with protein product	"Clk4 associating SR-related protein"		"splicing factor, arginine/serine-rich 16"	SFRS16		12169693	Standard	NM_007056		Approved	SWAP2, CLASP	uc002pak.3	Q8N2M8	OTTHUMG00000150189	ENST00000221455.3:c.138A>C	chr19.hg19:g.45555367A>C			B4DDT8|F8WAG9|O96026|Q6UW71|Q96DX2	Silent	SNP	ENST00000221455.3	hg19	CCDS12652.2																																																																																				0.572	CLASRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316749.1	NM_007056		C	45555367	A	C	45555367	2	2	667	1	0	0	0	0	0	0	0	1	14178	291	11	5		5	SFRS16	19	45555367	Silent	SNP	A	TCGA-GL-A9DD-01A-11D-A36X-10	22010541	45555367	13573616	98	36545											
FTL	2512	hgsc.bcm.edu	37	19	49469662	49469662	+	Splice_Site	SNP	A	A	G	rs17856437		TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr19:49469662A>G	ENST00000331825.6	+	3	581	c.374A>G	c.(373-375)cAt>cGt	p.H125R	CTD-2639E6.9_ENST00000599784.1_lincRNA	NM_000146.3	NP_000137.2	P02792	FRIL_HUMAN	ferritin, light polypeptide	125	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular ferritin complex (GO:0008043)|membrane (GO:0016020)	ferric iron binding (GO:0008199)|identical protein binding (GO:0042802)|iron ion binding (GO:0005506)			cervix(1)|kidney(3)|lung(5)	9		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;0.000152)|all cancers(93;0.000435)|GBM - Glioblastoma multiforme(486;0.0171)|Epithelial(262;0.0267)	Iron Dextran(DB00893)	ACGGACCCCCATGTACGTACC	0.557																																																0													46	46	46					19																	49469662		2203	4300	6503	SO:0001630	splice_region_variant	2512			AY207005	CCDS33070.1	19q13.33	2014-05-19			ENSG00000087086	ENSG00000087086			3999	protein-coding gene	gene with protein product	"ferritin light polypeptide-like 3", "L apoferritin", "ferritin L subunit", "ferritin light chain", "ferritin L-chain", "neurodegeneration with brain iron accumulation 3"	134790				3000916, 9526618	Standard	NM_000146		Approved	MGC71996, NBIA3	uc002plo.3	P02792		ENST00000331825.6:c.375+1A>G	chr19.hg19:g.49469662A>G			B2R4B9|Q6IBT7|Q7Z2W1|Q86WI9|Q8WU07|Q96AU9|Q96CU0|Q9BTZ8	Missense_Mutation	SNP	ENST00000331825.6	hg19	CCDS33070.1	.	.	.	.	.	.	.	.	.	.	A	17.57	3.422947	0.62733	.	.	ENSG00000087086	ENST00000331825;ENST00000397259	T	0.64803	-0.12	4.46	4.46	0.54185	Ferritin/ribonucleotide reductase-like (1);Ferritin, conserved site (1);Ferritin-related (1);Ferritin/DPS protein domain (1);Ferritin-like (1);	0.000000	0.85682	D	0.000000	T	0.70561	0.3238	M	0.65498	2.005	0.45183	D	0.998191	P	0.44380	0.834	P	0.53401	0.725	T	0.74334	-0.3699	10	0.72032	D	0.01	.	12.021	0.53344	1.0:0.0:0.0:0.0	rs17856437	125	P02792	FRIL_HUMAN	R	125	ENSP00000366525:H125R	ENSP00000366525:H125R	H	+	2	0	FTL	54161474	1.000000	0.71417	1.000000	0.80357	0.311000	0.27955	8.334000	0.90028	2.011000	0.59026	0.460000	0.39030	CAT		0.557	FTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466233.1	NM_000146	Missense_Mutation	G	49469662	A	G	49469662	5	3	667	1	0	0	0	0	0	0	1	0	6086	231	8	3	384	3	FTL	19	49469662	Splice_Site	SNP	A	TCGA-GL-A9DD-01A-11D-A36X-10	3914295	49469662	9659321	99	36546											
ZNF628	89887	hgsc.bcm.edu	37	19	55992958	55992958	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr19:55992958delC	ENST00000598519.1	+	3	951	c.398delC	c.(397-399)tccfs	p.S133fs	ZNF628_ENST00000391718.2_Frame_Shift_Del_p.S129fs			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	133					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		AAGTGGTCGTCCCACTACCAG	0.662																																																0													40	40	40					19																	55992958		2203	4299	6502	SO:0001589	frameshift_variant	89887			AF367249	CCDS33116.3	19q13.43	2013-01-08			ENSG00000197483	ENSG00000197483		"Zinc fingers, C2H2-type"	28054	protein-coding gene	gene with protein product	"Zinc finger expressed in Embryonal cells and Certain adult organs"	610671					Standard	NM_033113		Approved	ZEC, Zfp628	uc002qld.3	Q5EBL2	OTTHUMG00000150396	ENST00000598519.1:c.398delC	chr19.hg19:g.55992958delC	ENSP00000469591:p.Ser133fs		Q86X34	Frame_Shift_Del	DEL	ENST00000598519.1	hg19	CCDS33116.3																																																																																				0.662	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2	XM_058964		-	55992958	C	-	55992958	7	5	667	1	0	1	0	1	0	0	0	0	18057	855	30	0	388	0	ZNF628	19	55992958	Frame_Shift_Del	DEL	C	TCGA-GL-A9DD-01A-11D-A36X-10	6523296	55992958	3136025	100	36547	273	3									
ZNF628	89887	hgsc.bcm.edu	37	19	55992960	55992961	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	CA	CA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr19:55992960_55992961delCA	ENST00000598519.1	+	3	953_954	c.400_401delCA	c.(400-402)cacfs	p.H134fs	ZNF628_ENST00000391718.2_Frame_Shift_Del_p.H130fs			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	134					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(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		GTGGTCGTCCCACTACCAGTAC	0.663																																																0																																										SO:0001589	frameshift_variant	89887			AF367249	CCDS33116.3	19q13.43	2013-01-08			ENSG00000197483	ENSG00000197483		"Zinc fingers, C2H2-type"	28054	protein-coding gene	gene with protein product	"Zinc finger expressed in Embryonal cells and Certain adult organs"	610671					Standard	NM_033113		Approved	ZEC, Zfp628	uc002qld.3	Q5EBL2	OTTHUMG00000150396	ENST00000598519.1:c.400_401delCA	chr19.hg19:g.55992960_55992961delCA	ENSP00000469591:p.His134fs		Q86X34	Frame_Shift_Del	DEL	ENST00000598519.1	hg19	CCDS33116.3																																																																																				0.663	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2	XM_058964		-	55992961	CA	-	55992960	7	5	667	1	0	1	0	1	0	0	0	0	18057	594	21	0	390	0	ZNF628	19	55992960	Frame_Shift_Del	DEL	CA	TCGA-GL-A9DD-01A-11D-A36X-10	2	55992960	3136023	101	36548	273	3									
ZNF628	89887	hgsc.bcm.edu	37	19	55992961	55992961	+	Missense_Mutation	SNP	A	A	T			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr19:55992961A>T	ENST00000598519.1	+	3	954	c.401A>T	c.(400-402)cAc>cTc	p.H134L	ZNF628_ENST00000391718.2_Missense_Mutation_p.H130L			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	134					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(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		TGGTCGTCCCACTACCAGTAC	0.662																																																0													40	40	40					19																	55992961		2203	4299	6502	SO:0001583	missense	89887			AF367249	CCDS33116.3	19q13.43	2013-01-08			ENSG00000197483	ENSG00000197483		"Zinc fingers, C2H2-type"	28054	protein-coding gene	gene with protein product	"Zinc finger expressed in Embryonal cells and Certain adult organs"	610671					Standard	NM_033113		Approved	ZEC, Zfp628	uc002qld.3	Q5EBL2	OTTHUMG00000150396	ENST00000598519.1:c.401A>T	chr19.hg19:g.55992961A>T	ENSP00000469591:p.His134Leu		Q86X34	Missense_Mutation	SNP	ENST00000598519.1	hg19	CCDS33116.3	.	.	.	.	.	.	.	.	.	.	.	15.79	2.936377	0.52972	.	.	ENSG00000197483	ENST00000391718	T	0.13089	2.62	3.62	3.62	0.41486	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.48767	U	0.000162	T	0.14614	0.0353	N	0.16130	0.375	0.44531	D	0.997482	D	0.76494	0.999	D	0.68353	0.957	T	0.07385	-1.0775	10	0.06625	T	0.88	-16.2924	10.5074	0.44842	1.0:0.0:0.0:0.0	.	130	Q5EBL2	ZN628_HUMAN	L	130	ENSP00000375598:H130L	ENSP00000375598:H130L	H	+	2	0	ZNF628	60684773	0.714000	0.27936	0.971000	0.41717	0.613000	0.37349	2.323000	0.43823	1.654000	0.50703	0.397000	0.26171	CAC		0.662	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2	XM_058964		T	55992961	A	T	55992961	3	4	667	1	0	0	0	0	1	0	0	0	18057	159	6	5	391	5	ZNF628	19	55992961	Missense_Mutation	SNP	A	TCGA-GL-A9DD-01A-11D-A36X-10	1	55992961	3136022	102	36549	273	3									
DIDO1	11083	hgsc.bcm.edu	37	20	61527694	61527695	+	Frame_Shift_Ins	INS	-	-	T			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr20:61527694_61527695insT	ENST00000266070.4	-	8	2429_2430	c.2104_2105insA	c.(2104-2106)attfs	p.I702fs	DIDO1_ENST00000395340.1_Frame_Shift_Ins_p.I702fs|DIDO1_ENST00000395343.1_Frame_Shift_Ins_p.I702fs|DIDO1_ENST00000395335.2_Frame_Shift_Ins_p.I702fs	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	702	TFIIS central. {ECO:0000255|PROSITE- ProRule:PRU00651}.				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)	p.I702V(1)		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)					ATGGAGGGCAATTTTTCCTACT	0.356																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)											1	Substitution - Missense(1)	lung(1)																																								SO:0001589	frameshift_variant	11083			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.2105dupA	chr20.hg19:g.61527699_61527699dupT	ENSP00000266070:p.Ile702fs		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Frame_Shift_Ins	INS	ENST00000266070.4	hg19	CCDS33506.1																																																																																				0.356	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		T	61527695	-	T	61527694	7	5	667	1	0	1	1	0	0	0	0	0	4524	101	4	0	4682	0	DIDO1	20	61527694	Frame_Shift_Ins	INS	-	TCGA-GL-A9DD-01A-11D-A36X-10		61527694	1497826	103	36550											
CCDC116	164592	hgsc.bcm.edu	37	22	21990901	21990901	+	Missense_Mutation	SNP	G	G	C			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr22:21990901G>C	ENST00000292779.3	+	5	1545	c.1384G>C	c.(1384-1386)Ggc>Cgc	p.G462R		NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	462										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					TAAGCAGCTGGGCTTCTTCTC	0.582																																																0													97	78	84					22																	21990901		2203	4300	6503	SO:0001583	missense	164592			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.1384G>C	chr22.hg19:g.21990901G>C	ENSP00000292779:p.Gly462Arg		Q8N9Y9	Missense_Mutation	SNP	ENST00000292779.3	hg19	CCDS13791.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.534618	0.64972	.	.	ENSG00000161180	ENST00000292779	T	0.33216	1.42	4.78	4.78	0.61160	.	0.000000	0.45361	D	0.000368	T	0.45875	0.1364	L	0.39898	1.24	0.33807	D	0.627382	D	0.89917	1.0	D	0.97110	1.0	T	0.57653	-0.7774	10	0.87932	D	0	-29.332	13.5001	0.61449	0.0:0.0:1.0:0.0	.	462	Q8IYX3-2	.	R	462	ENSP00000292779:G462R	ENSP00000292779:G462R	G	+	1	0	CCDC116	20320901	1.000000	0.71417	0.998000	0.56505	0.460000	0.32559	4.725000	0.61979	2.655000	0.90218	0.585000	0.79938	GGC		0.582	CCDC116-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320199.1	NM_152612		C	21990901	G	C	21990901	3	2	667	1	0	0	0	0	1	0	0	0	2755	1232	43	4	1398	4	CCDC116	22	21990901	Missense_Mutation	SNP	G	TCGA-GL-A9DD-01A-11D-A36X-10		21990901	29313665	104	36551											
MN1	4330	hgsc.bcm.edu	37	22	28194894	28194894	+	Silent	SNP	C	C	T	rs202212250		TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chr22:28194894C>T	ENST00000302326.4	-	1	2592	c.1638G>A	c.(1636-1638)caG>caA	p.Q546Q		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	546	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						gctgctgctgctgctgttgct	0.642			T	ETV6	"AML, meningioma"																																		Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"L, O"	0													4	5	5					22																	28194894		1986	4018	6004	SO:0001819	synonymous_variant	4330			X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"probable tumor suppressor protein MN1"	156100	"meningioma chromosome region"	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.1638G>A	chr22.hg19:g.28194894C>T			A9Z1V9	Silent	SNP	ENST00000302326.4	hg19	CCDS42998.1																																																																																				0.642	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		T	28194894	C	T	28194894	2	4	667	1	0	0	0	0	0	0	0	1	9675	796	28	2		2	MN1	22	28194894	Silent	SNP	C	TCGA-GL-A9DD-01A-11D-A36X-10	6203993	28194894	23109672	105	36552											
MAP3K15	389840	hgsc.bcm.edu	37	X	19389154	19389154	+	Missense_Mutation	SNP	A	A	C			TCGA-GL-A9DD-01A-11D-A36X-10	TCGA-GL-A9DD-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7bd84624-b7e4-417d-aff5-1b303bb9d686	62afbca2-3422-4619-8efb-351ae7a8221a	g.chrX:19389154A>C	ENST00000338883.4	-	24	3322	c.3323T>G	c.(3322-3324)aTt>aGt	p.I1108S	MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.I940S|MAP3K15_ENST00000359173.3_Missense_Mutation_p.I543S	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	1108							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)					GTGGGGCCTAATTAAGTGGTT	0.433																																																0													44	44	44					X																	19389154		2203	4300	6503	SO:0001583	missense	389840			AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.3323T>G	chrX.hg19:g.19389154A>C	ENSP00000345629:p.Ile1108Ser		A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Missense_Mutation	SNP	ENST00000338883.4	hg19		.	.	.	.	.	.	.	.	.	.	A	16.69	3.192878	0.58017	.	.	ENSG00000180815	ENST00000338883;ENST00000359173;ENST00000469203	D;D;D	0.82893	-1.63;-1.66;-1.59	5.25	4.05	0.47172	.	0.045663	0.85682	D	0.000000	D	0.89230	0.6656	M	0.87180	2.865	0.80722	D	1	D;P	0.56035	0.974;0.736	P;B	0.55871	0.786;0.221	D	0.89322	0.3641	10	0.87932	D	0	.	10.8165	0.46580	0.8561:0.0:0.0:0.1439	.	583;1108	Q6ZN16-3;Q6ZN16	.;M3K15_HUMAN	S	1108;543;940	ENSP00000345629:I1108S;ENSP00000352093:I543S;ENSP00000428356:I940S	ENSP00000345629:I1108S	I	-	2	0	MAP3K15	19299075	1.000000	0.71417	0.987000	0.45799	0.992000	0.81027	6.988000	0.76212	0.705000	0.31890	0.451000	0.29950	ATT		0.433	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001671		C	19389154	A	C	19389154	3	2	667	1	0	0	0	0	1	0	0	0	9251	101	4	5	642	5	MAP3K15	23	19389154	Missense_Mutation	SNP	A	TCGA-GL-A9DD-01A-11D-A36X-10		19389154	135881406	106	36553											
KAZ	23254	hgsc.bcm.edu	37	1	15428105	15428105	+	Silent	SNP	G	G	A			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr1:15428105G>A	ENST00000376030.2	+	11	1908	c.1614G>A	c.(1612-1614)ctG>ctA	p.L538L		NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	538	SAM 2. {ECO:0000255|PROSITE- ProRule:PRU00184}.				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						ACATTGGCCTGTCCCAGTACT	0.577																																																0													46	38	40					1																	15428105		2197	4282	6479	SO:0001819	synonymous_variant	23254			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.1614G>A	chr1.hg19:g.15428105G>A			B0QYQ0|B1AK78|Q5TGF1|Q674X4|Q674X6|Q6ZUD1|Q8IYN7|Q8N409|Q9UIL2|Q9UPX4	Silent	SNP	ENST00000376030.2	hg19	CCDS152.2																																																																																				0.577	KAZN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005690.2	NM_001017999		A	15428105	G	A	15428105	2	1	668	1	0	0	0	0	0	0	0	1	7990	1364	48	2		2	KAZ	1	15428105	Silent	SNP	G	TCGA-GL-A9DE-01A-11D-A36X-10		15428105	233822516	1	36554											
SFRS4	6429	hgsc.bcm.edu	37	1	29475201	29475201	+	Silent	SNP	G	G	C			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr1:29475201G>C	ENST00000373795.4	-	6	1440	c.1206C>G	c.(1204-1206)tcC>tcG	p.S402S	SRSF4_ENST00000466448.1_5'UTR|RP11-242O24.3_ENST00000413004.1_lincRNA|SRSF4_ENST00000546138.1_3'UTR	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN	serine/arginine-rich splicing factor 4	402	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						ATCTGGACTGGGAGCGGTCAG	0.582																																																0													141	145	144					1																	29475201		2203	4300	6503	SO:0001819	synonymous_variant	6429			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.1206C>G	chr1.hg19:g.29475201G>C			Q5VXP1|Q9BUA4|Q9UEB5	Silent	SNP	ENST00000373795.4	hg19	CCDS333.1																																																																																				0.582	SRSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010392.1	NM_005626		C	29475201	G	C	29475201	2	2	668	1	0	0	0	0	0	0	0	1	14185	1219	43	4		4	SFRS4	1	29475201	Silent	SNP	G	TCGA-GL-A9DE-01A-11D-A36X-10	14047096	29475201	219775420	2	36555											
IPP	3652	hgsc.bcm.edu	37	1	46206791	46206792	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr1:46206791_46206792insCC	ENST00000396478.3	-	3	607_608	c.505_506insGG	c.(505-507)gttfs	p.V169fs		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	169						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)					TCCACTATGAACCTCCAAGAAA	0.406																																																0																																										SO:0001589	frameshift_variant	3652			BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"Kelch-like", "BTB/POZ domain containing"	6108	protein-coding gene	gene with protein product	"kelch-like family member 27"	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.504_505dupGG	chr1.hg19:g.46206792_46206793dupCC	ENSP00000379739:p.Val169fs		A2A6V4|D3DQ11|Q8N5C3	Frame_Shift_Ins	INS	ENST00000396478.3	hg19	CCDS30702.1																																																																																				0.406	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021974.3	NM_005897		CC	46206792	-	CC	46206791	7	5	668	1	0	1	1	0	0	0	0	0	7802	43	2	0	1378	0	IPP	1	46206791	Frame_Shift_Ins	INS	-	TCGA-GL-A9DE-01A-11D-A36X-10	16731590	46206791	203043830	3	36556											
KIAA0494	9813	hgsc.bcm.edu	37	1	47144277	47144277	+	Silent	SNP	C	C	T			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr1:47144277C>T	ENST00000371933.3	-	11	2320	c.1344G>A	c.(1342-1344)caG>caA	p.Q448Q	EFCAB14-AS1_ENST00000418985.1_RNA|EFCAB14_ENST00000544071.1_Intron|EFCAB14-AS1_ENST00000442839.1_RNA	NM_014774.2	NP_055589.1	O75071	EFC14_HUMAN	EF-hand calcium binding domain 14	448	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)										CATCCACGTCCTGGCCAGTCT	0.423																																																0													84	85	84					1																	47144277		2203	4300	6503	SO:0001819	synonymous_variant	9813			AB007963	CCDS30706.1	1p33	2013-01-10	2012-11-29	2012-11-29	ENSG00000159658	ENSG00000159658		"EF-hand domain containing"	29051	protein-coding gene	gene with protein product			"KIAA0494"	KIAA0494		9455484	Standard	NM_014774		Approved		uc001cqk.4	O75071	OTTHUMG00000007992	ENST00000371933.3:c.1344G>A	chr1.hg19:g.47144277C>T			D3DQ23|Q5SXB8	Silent	SNP	ENST00000371933.3	hg19	CCDS30706.1																																																																																				0.423	EFCAB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021931.1	NM_014774		T	47144277	C	T	47144277	2	4	668	1	0	0	0	0	0	0	0	1	8181	680	24	2		2	KIAA0494	1	47144277	Silent	SNP	C	TCGA-GL-A9DE-01A-11D-A36X-10	937486	47144277	202106344	4	36557											
SPATA6	54558	hgsc.bcm.edu	37	1	48865170	48865170	+	Missense_Mutation	SNP	A	A	C			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr1:48865170A>C	ENST00000371847.3	-	7	797	c.633T>G	c.(631-633)atT>atG	p.I211M	SPATA6_ENST00000371843.3_Missense_Mutation_p.I211M|SPATA6_ENST00000463938.1_5'UTR|SPATA6_ENST00000396199.3_Missense_Mutation_p.I139M	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	211					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						ATTTTGAAGAAATTGTAGGCT	0.418																																																0													267	271	270					1																	48865170		2203	4300	6503	SO:0001583	missense	54558			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.633T>G	chr1.hg19:g.48865170A>C	ENSP00000360913:p.Ile211Met		Q5T3N7|Q8WUE6	Missense_Mutation	SNP	ENST00000371847.3	hg19	CCDS551.1	.	.	.	.	.	.	.	.	.	.	A	16.85	3.236288	0.58886	.	.	ENSG00000132122	ENST00000371847;ENST00000371843;ENST00000396199;ENST00000371841	T;T;T;T	0.54675	2.59;2.57;2.58;0.56	5.57	0.164	0.14990	.	0.205873	0.41938	D	0.000789	T	0.53449	0.1797	L	0.43152	1.355	0.35753	D	0.819568	D;D;D;D	0.76494	0.998;0.999;0.998;0.998	D;D;D;D	0.76575	0.967;0.988;0.983;0.983	T	0.59878	-0.7371	10	0.87932	D	0	.	0.4593	0.00513	0.4101:0.1327:0.1989:0.2582	.	139;139;211;211	B4DX17;A8MU33;Q9NWH7-2;Q9NWH7	.;.;.;SPAT6_HUMAN	M	211;211;139;52	ENSP00000360913:I211M;ENSP00000360909:I211M;ENSP00000379502:I139M;ENSP00000360907:I52M	ENSP00000360907:I52M	I	-	3	3	SPATA6	48637757	0.814000	0.29104	1.000000	0.80357	0.991000	0.79684	-0.141000	0.10327	0.356000	0.24157	-0.421000	0.06004	ATT		0.418	SPATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021347.1	NM_019073		C	48865170	A	C	48865170	3	2	668	1	0	0	0	0	1	0	0	0	15018	10	1	5	861	5	SPATA6	1	48865170	Missense_Mutation	SNP	A	TCGA-GL-A9DE-01A-11D-A36X-10	1720893	48865170	200385451	5	36558											
CACHD1	57685	hgsc.bcm.edu	37	1	65107535	65107535	+	Missense_Mutation	SNP	G	G	T			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr1:65107535G>T	ENST00000371073.2	+	8	1039	c.1039G>T	c.(1039-1041)Ggc>Tgc	p.G347C	CACHD1_ENST00000290039.5_Missense_Mutation_p.G296C|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	347	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CCTGTCAGCTGGCATTACATC	0.383																																																0													131	124	127					1																	65107535		2203	4300	6503	SO:0001583	missense	57685			AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"von Willebrand factor type A and cache domain containing 1"	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.1039G>T	chr1.hg19:g.65107535G>T	ENSP00000360113:p.Gly347Cys		Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Missense_Mutation	SNP	ENST00000371073.2	hg19		.	.	.	.	.	.	.	.	.	.	G	29.1	4.979116	0.92982	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	T;T	0.49139	0.79;0.79	5.77	5.77	0.91146	von Willebrand factor, type A (2);	0.000000	0.85682	D	0.000000	T	0.52517	0.1739	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.57705	-0.7765	10	0.87932	D	0	-35.1798	19.9906	0.97362	0.0:0.0:1.0:0.0	.	347	Q5VU97	CAHD1_HUMAN	C	347;296	ENSP00000360113:G347C;ENSP00000290039:G296C	ENSP00000290039:G296C	G	+	1	0	CACHD1	64880123	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	9.468000	0.97676	2.729000	0.93468	0.609000	0.83330	GGC		0.383	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925		T	65107535	G	T	65107535	3	4	668	1	0	0	0	0	1	0	0	0	2539	1348	47	4	916	4	CACHD1	1	65107535	Missense_Mutation	SNP	G	TCGA-GL-A9DE-01A-11D-A36X-10	16242365	65107535	184143086	6	36559											
FAM40A	85369	hgsc.bcm.edu	37	1	110577332	110577364	+	In_Frame_Del	DEL	CCGCCGGCAGCCGCACAGCCACCACCCGGGGCA	CCGCCGGCAGCCGCACAGCCACCACCCGGGGCA	-			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	CCGCCGGCAGCCGCACAGCCACCACCCGGGGCA	CCGCCGGCAGCCGCACAGCCACCACCCGGGGCA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr1:110577332_110577364delCCGCCGGCAGCCGCACAGCCACCACCCGGGGCA	ENST00000369795.3	+	1	95_127	c.73_105delCCGCCGGCAGCCGCACAGCCACCACCCGGGGCA	c.(73-105)ccgccggcagccgcacagccaccacccggggcadel	p.PPAAAQPPPGA25del	STRIP1_ENST00000369796.1_Intron|STRIP1_ENST00000369794.2_In_Frame_Del_p.PPAAAQPPPGA25del	NM_033088.3	NP_149079.2	Q5VSL9	STRP1_HUMAN	striatin interacting protein 1	25	Pro-rich.				cortical actin cytoskeleton organization (GO:0030866)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)											GCCACCTCCGCCGCCGGCAGCCGCACAGCCACCAcccggggcaccgcgggccg	0.712																																																0																																										SO:0001651	inframe_deletion	85369			AK027649	CCDS30798.1, CCDS59197.1	1p13.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000143093	ENSG00000143093			25916	protein-coding gene	gene with protein product	"FAR11 factor arrest 11 homolog A (yeast)"		"family with sequence similarity 40, member A"	FAM40A		11214970, 12588993, 22782902, 22298706, 18782753	Standard	NM_033088		Approved	FLJ14743, KIAA1761, FAR11A	uc001dza.2	Q5VSL9	OTTHUMG00000170607	ENST00000369795.3:c.73_105delCCGCCGGCAGCCGCACAGCCACCACCCGGGGCA	chr1.hg19:g.110577332_110577364delCCGCCGGCAGCCGCACAGCCACCACCCGGGGCA	ENSP00000358810:p.Pro25_Ala35del		Q0V925|Q5VSL8|Q658K2|Q6ZV31|Q8N598|Q96SN2|Q9C0A2	In_Frame_Del	DEL	ENST00000369795.3	hg19	CCDS30798.1																																																																																				0.712	STRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032213.1	NM_033088		-	110577364	CCGCCGGCAGCCGCACAGCCACCACCCGGGGCA	-	110577332	7	5	668	1	0	1	0	1	0	0	0	0	5562	739	26	0	75	0	FAM40A	1	110577332	In_Frame_Del	DEL	CCGCCGGCAGCCGCACAGCCACCACCCGGGGCA	TCGA-GL-A9DE-01A-11D-A36X-10	45469797	110577332	138673289	7	36560											
IGSF3	3321	hgsc.bcm.edu	37	1	117122158	117122158	+	Missense_Mutation	SNP	G	G	A			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr1:117122158G>A	ENST00000369486.3	-	10	3955	c.3190C>T	c.(3190-3192)Cgg>Tgg	p.R1064W	IGSF3_ENST00000369483.1_Missense_Mutation_p.R1084W|IGSF3_ENST00000318837.6_Missense_Mutation_p.R1084W	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	1064	Ig-like C2-type 8.				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)		ACTGTGAGCCGGTAGAGCACC	0.637																																																0													48	50	49					1																	117122158		2203	4300	6503	SO:0001583	missense	3321			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.3190C>T	chr1.hg19:g.117122158G>A	ENSP00000358498:p.Arg1064Trp		A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	hg19	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.271626	0.59649	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.22945	1.93;1.93;1.93	4.67	2.66	0.31614	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.124838	0.53938	D	0.000043	T	0.27313	0.0670	L	0.48642	1.525	0.38363	D	0.944664	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.984	T	0.06698	-1.0812	10	0.87932	D	0	-49.5391	7.5572	0.27831	0.0:0.1593:0.5132:0.3275	.	1064;1084	O75054;A6NJZ6	IGSF3_HUMAN;.	W	1064;1084;1084	ENSP00000358498:R1064W;ENSP00000358495:R1084W;ENSP00000321184:R1084W	ENSP00000321184:R1084W	R	-	1	2	IGSF3	116923681	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	2.081000	0.41596	1.154000	0.42482	0.462000	0.41574	CGG		0.637	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		A	117122158	G	A	117122158	3	1	668	1	0	0	0	0	1	0	0	0	7603	1115	39	1	402	1	IGSF3	1	117122158	Missense_Mutation	SNP	G	TCGA-GL-A9DE-01A-11D-A36X-10	6544826	117122158	132128463	8	36561											
POLR3GL	84265	hgsc.bcm.edu	37	1	145457964	145457964	+	Missense_Mutation	SNP	G	G	A			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr1:145457964G>A	ENST00000369314.1	-	4	402	c.296C>T	c.(295-297)cCg>cTg	p.P99L	POLR3GL_ENST00000369313.3_Intron	NM_032305.1	NP_115681.1	Q9BT43	RPC7L_HUMAN	polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like	99					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)|transcription initiation from RNA polymerase III promoter (GO:0006384)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)				endometrium(2)|large_intestine(1)|lung(1)	4	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ATTGTCAATCGGACCTGACAT	0.483																																																0													175	140	152					1																	145457964		2203	4300	6503	SO:0001583	missense	84265			BC004355	CCDS72875.1	1q21.1	2008-02-05	2006-12-14		ENSG00000121851	ENSG00000121851			28466	protein-coding gene	gene with protein product			"polymerase (RNA) III (DNA directed) polypeptide G (32kD) like"			12477932	Standard	NM_032305		Approved	flj32422, MGC3200	uc001enp.1	Q9BT43	OTTHUMG00000013739	ENST00000369314.1:c.296C>T	chr1.hg19:g.145457964G>A	ENSP00000358320:p.Pro99Leu		B1MVG5	Missense_Mutation	SNP	ENST00000369314.1	hg19	CCDS914.1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.850236	0.71719	.	.	ENSG00000121851	ENST00000369314	.	.	.	5.32	4.4	0.53042	.	0.212727	0.38436	N	0.001698	T	0.56934	0.2019	M	0.77820	2.39	0.80722	D	1	D	0.69078	0.997	P	0.54026	0.74	T	0.59161	-0.7506	9	0.30078	T	0.28	-14.425	11.9585	0.52995	0.0836:0.0:0.9164:0.0	.	99	Q9BT43	RPC7L_HUMAN	L	99	.	ENSP00000358320:P99L	P	-	2	0	POLR3GL	144169321	1.000000	0.71417	0.834000	0.33040	0.955000	0.61496	4.357000	0.59436	1.471000	0.48121	0.655000	0.94253	CCG		0.483	POLR3GL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038510.1	NM_032305		A	145457964	G	A	145457964	3	1	668	1	0	0	0	0	1	0	0	0	12237	1116	39	1	380	1	POLR3GL	1	145457964	Missense_Mutation	SNP	G	TCGA-GL-A9DE-01A-11D-A36X-10	28335806	145457964	103792657	9	36562											
CTSK	1513	hgsc.bcm.edu	37	1	150778422	150778422	+	Missense_Mutation	SNP	G	G	C			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr1:150778422G>C	ENST00000271651.3	-	4	424	c.314C>G	c.(313-315)aCc>aGc	p.T105S	CTSK_ENST00000480670.1_5'UTR	NM_000396.3	NP_000387.1	P43235	CATK_HUMAN	cathepsin K	105					bone resorption (GO:0045453)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|intramembranous ossification (GO:0001957)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|proteoglycan binding (GO:0043394)			cervix(1)|endometrium(1)|lung(4)|skin(1)	7	all_cancers(9;2.32e-51)|all_epithelial(9;3.89e-42)|all_lung(15;4.59e-35)|Lung NSC(24;1.7e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Colorectal(459;0.171)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			GATATAAAGGGTGTCATTACT	0.458																																																0													121	116	118					1																	150778422		2203	4300	6503	SO:0001583	missense	1513			BC016058	CCDS969.1	1q21	2008-02-05	2006-12-05		ENSG00000143387	ENSG00000143387		"Cathepsins"	2536	protein-coding gene	gene with protein product		601105	"cathepsin K (pycnodysostosis)"	CTSO2, CTSO, PYCD		7818555	Standard	NM_000396		Approved	PKND	uc001evp.2	P43235	OTTHUMG00000035008	ENST00000271651.3:c.314C>G	chr1.hg19:g.150778422G>C	ENSP00000271651:p.Thr105Ser		Q6FHS6	Missense_Mutation	SNP	ENST00000271651.3	hg19	CCDS969.1	.	.	.	.	.	.	.	.	.	.	G	2.425	-0.332121	0.05314	.	.	ENSG00000143387	ENST00000271651;ENST00000443913	D;D	0.97553	-4.43;-4.43	5.38	5.38	0.77491	.	0.289753	0.38492	N	0.001665	D	0.86234	0.5884	L	0.31120	0.905	0.38859	D	0.956449	P	0.42993	0.797	B	0.32980	0.156	D	0.87916	0.2700	10	0.02654	T	1	.	12.0088	0.53276	0.0:0.0:0.8273:0.1727	.	105	P43235	CATK_HUMAN	S	105;164	ENSP00000271651:T105S;ENSP00000405083:T164S	ENSP00000271651:T105S	T	-	2	0	CTSK	149045046	1.000000	0.71417	0.996000	0.52242	0.431000	0.31685	3.309000	0.51903	2.683000	0.91414	0.561000	0.74099	ACC		0.458	CTSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084732.1	NM_000396		C	150778422	G	C	150778422	3	2	668	1	0	0	0	0	1	0	0	0	4039	1261	44	4	695	4	CTSK	1	150778422	Missense_Mutation	SNP	G	TCGA-GL-A9DE-01A-11D-A36X-10	5320458	150778422	98472199	10	36563											
TCHH	7062	hgsc.bcm.edu	37	1	152081020	152081020	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr1:152081020C>T	ENST00000368804.1	-	2	4672	c.4673G>A	c.(4672-4674)cGc>cAc	p.R1558H		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1558	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)			TTCCTCCTCGCGGAATTTTCT	0.612																																																0													59	60	60					1																	152081020		1888	4101	5989	SO:0001583	missense	7062			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"EF-hand domain containing"	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.4673G>A	chr1.hg19:g.152081020C>T	ENSP00000357794:p.Arg1558His		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	hg19	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	-	8.616	0.890198	0.17613	.	.	ENSG00000159450	ENST00000368804	T	0.05925	3.37	3.3	1.34	0.21922	.	.	.	.	.	T	0.05135	0.0137	L	0.46157	1.445	0.09310	N	1	D	0.89917	1.0	D	0.63192	0.912	T	0.29150	-1.0021	9	0.44086	T	0.13	-1.3601	4.0858	0.09947	0.4099:0.4715:0.0:0.1186	.	1558	Q07283	TRHY_HUMAN	H	1558	ENSP00000357794:R1558H	ENSP00000357794:R1558H	R	-	2	0	TCHH	150347644	0.000000	0.05858	0.007000	0.13788	0.032000	0.12392	-0.112000	0.10791	0.211000	0.20683	0.460000	0.39030	CGC		0.612	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		T	152081020	C	T	152081020	3	4	668	1	0	0	0	0	1	0	0	0	15705	768	27	1	1162	1	TCHH	1	152081020	Missense_Mutation	SNP	C	TCGA-GL-A9DE-01A-11D-A36X-10	1302598	152081020	97169601	11	36564											
LYST	1130	hgsc.bcm.edu	37	1	235969849	235969849	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr1:235969849C>T	ENST00000389794.3	-	6	2761	c.2587G>A	c.(2587-2589)Gct>Act	p.A863T	LYST_ENST00000536965.1_Missense_Mutation_p.A863T|LYST_ENST00000389793.2_Missense_Mutation_p.A863T			Q99698	LYST_HUMAN	lysosomal trafficking regulator	863					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)			TCTGAATAAGCTTGCTGATGA	0.408																																																0													164	164	164					1																	235969849		2203	4300	6503	SO:0001583	missense	1130			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.2587G>A	chr1.hg19:g.235969849C>T	ENSP00000374444:p.Ala863Thr		O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	hg19	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.696527	0.30142	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.62364	0.03;0.03;1.18	5.48	3.56	0.40772	.	1.082300	0.07038	N	0.829561	T	0.52041	0.1710	L	0.34521	1.04	0.09310	N	1	P;B	0.40660	0.726;0.005	B;B	0.39217	0.294;0.004	T	0.39440	-0.9614	10	0.45353	T	0.12	.	7.6404	0.28290	0.2933:0.6315:0.0:0.0753	.	863;863	Q99698-3;Q99698	.;LYST_HUMAN	T	863	ENSP00000374444:A863T;ENSP00000374443:A863T;ENSP00000438315:A863T	ENSP00000374443:A863T	A	-	1	0	LYST	234036472	0.000000	0.05858	0.579000	0.28588	0.710000	0.40934	0.322000	0.19576	0.648000	0.30732	0.655000	0.94253	GCT		0.408	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			T	235969849	C	T	235969849	3	4	668	1	0	0	0	0	1	0	0	0	9130	797	28	2	9010	2	LYST	1	235969849	Missense_Mutation	SNP	C	TCGA-GL-A9DE-01A-11D-A36X-10	83888829	235969849	13280772	12	36565											
ZNF695	57116	hgsc.bcm.edu	37	1	247150413	247150414	+	Missense_Mutation	DNP	TT	TT	AA			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr1:247150413_247150414TT>AA	ENST00000339986.7	-	4	1550_1551	c.1403_1404AA>TT	c.(1402-1404)gAA>gTT	p.E468V	ZNF695_ENST00000498046.2_Intron|ZNF695_ENST00000487338.2_Intron	NM_020394.4	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein 695	468					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-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)			CTTTGCCACATTCTTCACATTT	0.386																																																0																																										SO:0001583	missense	57116				CCDS44344.1, CCDS55694.1	1q44	2013-01-08			ENSG00000197472	ENSG00000197472		"Zinc fingers, C2H2-type", "-"	30954	protein-coding gene	gene with protein product						12477932	Standard	NM_020394		Approved	SBZF3	uc009xgu.3	Q8IW36	OTTHUMG00000040707	ENST00000339986.7:c.1403_1404delinsAA	chr1.hg19:g.247150413_247150414delinsAA	ENSP00000341236:p.Glu468Val		Q5T0N9|Q5T0P1|Q5T0P3|Q7Z2W8|Q7Z648	Missense_Mutation	SNP	ENST00000339986.7	hg19	CCDS44344.1																																																																																				0.386	ZNF695-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097823.5	NM_020394		AA	247150414	TT	AA	247150413	3	1	668	1	0	0	0	0	1	0	0	0	18103	1490	52	5	147	5	ZNF695	1	247150413	Missense_Mutation	DNP	TT	TCGA-GL-A9DE-01A-11D-A36X-10	11180564	247150413	2100208	13	36566											
LTBP1	4052	hgsc.bcm.edu	37	2	33525581	33525581	+	Missense_Mutation	SNP	C	C	A			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr2:33525581C>A	ENST00000404816.2	+	21	3652	c.3299C>A	c.(3298-3300)tCc>tAc	p.S1100Y	LTBP1_ENST00000272273.5_Missense_Mutation_p.S40Y|LTBP1_ENST00000418533.2_Missense_Mutation_p.S774Y|LTBP1_ENST00000498013.1_3'UTR|LTBP1_ENST00000404525.1_Missense_Mutation_p.S721Y|LTBP1_ENST00000402934.1_Missense_Mutation_p.S721Y|LTBP1_ENST00000354476.3_Missense_Mutation_p.S1101Y|LTBP1_ENST00000390003.4_Missense_Mutation_p.S775Y|LTBP1_ENST00000407925.1_Missense_Mutation_p.S774Y			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1100	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)				ACCGAGGGCTCCTTCAGGTGC	0.453																																																0													96	96	96					2																	33525581		2203	4300	6503	SO:0001583	missense	4052				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.3299C>A	chr2.hg19:g.33525581C>A	ENSP00000386043:p.Ser1100Tyr		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	hg19	CCDS33177.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.1|24.1	4.488575|4.488575	0.84854|0.84854	.|.	.|.	ENSG00000049323|ENSG00000049323	ENST00000415140|ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925;ENST00000272273	.|D;D;D;D;D;D;D;D	.|0.95412	.|-3.7;-3.7;-3.7;-3.7;-3.7;-3.7;-3.7;-3.7	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);	.|.	.|.	.|.	.|.	D|D	0.98226|0.98226	0.9413|0.9413	M|M	0.90870|0.90870	3.155|3.155	0.58432|0.58432	D|D	0.999995|0.999995	.|P;D;D;D;D;D;D	.|0.89917	.|0.879;0.999;1.0;1.0;1.0;1.0;0.999	.|P;D;D;D;D;D;D	.|0.91635	.|0.766;0.995;0.998;0.998;0.991;0.999;0.991	D|D	0.99257|0.99257	1.0889|1.0889	5|9	.|0.87932	.|D	.|0	.|.	17.9453|17.9453	0.89036|0.89036	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|40;1100;774;721;774;775;1101	.|E7EUU6;Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	.|.;LTBP1_HUMAN;.;.;.;.;.	T|Y	62|1100;1101;775;774;721;721;774;40	.|ENSP00000386043:S1100Y;ENSP00000346467:S1101Y;ENSP00000374653:S775Y;ENSP00000393057:S774Y;ENSP00000384373:S721Y;ENSP00000385359:S721Y;ENSP00000384091:S774Y;ENSP00000272273:S40Y	.|ENSP00000272273:S40Y	P|S	+|+	1|2	0|0	LTBP1|LTBP1	33379085|33379085	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	6.468000|6.468000	0.73551|0.73551	2.532000|2.532000	0.85374|0.85374	0.555000|0.555000	0.69702|0.69702	CCT|TCC		0.453	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		A	33525581	C	A	33525581	3	1	668	1	0	0	0	0	1	0	0	0	9075	855	30	4	3436	4	LTBP1	2	33525581	Missense_Mutation	SNP	C	TCGA-GL-A9DE-01A-11D-A36X-10		33525581	209673792	14	36567											
ALMS1	7840	hgsc.bcm.edu	37	2	73613036	73613037	+	Missense_Mutation	DNP	GA	GA	CT	rs61156725|rs72319667|rs3074417	byFrequency	TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	G|A	G|A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr2:73613036_73613037GA>CT	ENST00000264448.6	+	1	151_152	c.40_41GA>CT	c.(40-42)GAg>CTg	p.E14L	ALMS1_ENST00000409009.1_Missense_Mutation_p.E14L|ALMS1_ENST00000377715.1_Missense_Mutation_p.E14L	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	14	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)		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						CGAGCTggaggaggaggaggag	0.693																																																1	Deletion - In frame(1)	ovary(1)																																								SO:0001583	missense	7840			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	Exception_encountered	chr2.hg19:g.73613036_73613037delinsCT	ENSP00000264448:p.Glu14Leu		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	hg19	CCDS42697.1																																																																																				0.693	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		CT	73613037	GA	CT	73613036	3	2	668	1	0	0	0	0	1	0	0	0	535	1175	41	4	42	4	ALMS1	2	73613036	Missense_Mutation	DNP	GA	TCGA-GL-A9DE-01A-11D-A36X-10	40087455	73613036	169586337	15	36568											
PRPF40A	55660	hgsc.bcm.edu	37	2	153551067	153551069	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	GCT	GCT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr2:153551067_153551069delGCT	ENST00000410080.1	-	3	825_827	c.284_286delAGC	c.(283-288)cagcct>cct	p.Q95del		NM_017892.3	NP_060362.3	O75400	PR40A_HUMAN	PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)	122					cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|mRNA processing (GO:0006397)|regulation of cell shape (GO:0008360)|regulation of cytokinesis (GO:0032465)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						GGTAAGGCAGGCTGCATGGAAGC	0.325																																																0																																										SO:0001651	inframe_deletion	55660			AF049523	CCDS46430.1	2q23.3	2010-01-25	2007-01-12	2006-01-13	ENSG00000196504	ENSG00000196504			16463	protein-coding gene	gene with protein product		612941	"formin-binding protein 3", "formin binding protein 3", "PRP40 pre-mRNA processing factor 40 homolog A (yeast)"	FNBP3		9724750, 12460579	Standard	NM_017892		Approved	FLJ20585, FBP11, HYPA, NY-REN-6, HIP10, FBP-11, FLAF1, Prp40	uc002tyh.4	O75400	OTTHUMG00000154031	ENST00000410080.1:c.284_286delAGC	chr2.hg19:g.153551067_153551069delGCT	ENSP00000386458:p.Gln95del		O43856|O75404|Q8TBQ1|Q9H782|Q9NWU9|Q9P0Q2|Q9Y5A8	In_Frame_Del	DEL	ENST00000410080.1	hg19	CCDS46430.1																																																																																				0.325	PRPF40A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333559.2	XM_371575		-	153551069	GCT	-	153551067	7	5	668	1	0	1	0	1	0	0	0	0	12576	1203	42	0	2602	0	PRPF40A	2	153551067	In_Frame_Del	DEL	GCT	TCGA-GL-A9DE-01A-11D-A36X-10	79938031	153551067	89648306	16	36569											
DHRS9	10170	hgsc.bcm.edu	37	2	169939934	169939934	+	Missense_Mutation	SNP	A	A	C			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr2:169939934A>C	ENST00000327239.4	+	6	1913	c.409A>C	c.(409-411)Aac>Cac	p.N137H	DHRS9_ENST00000421653.1_5'UTR|DHRS9_ENST00000357546.2_Missense_Mutation_p.N137H|DHRS9_ENST00000436483.2_Missense_Mutation_p.N137H|DHRS9_ENST00000602501.1_Missense_Mutation_p.N137H|DHRS9_ENST00000432060.2_Missense_Mutation_p.N197H|DHRS9_ENST00000428522.1_Missense_Mutation_p.N137H|DHRS9_ENST00000412271.1_Missense_Mutation_p.N137H	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9	137					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						TATTGAAGTGAACCTGTTTGG	0.488																																																0													148	136	140					2																	169939934		2203	4300	6503	SO:0001583	missense	10170			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.409A>C	chr2.hg19:g.169939934A>C	ENSP00000316670:p.Asn137His		B7Z416|D3DPC1|Q5RKX1|Q9NRA9|Q9NRB0	Missense_Mutation	SNP	ENST00000327239.4	hg19	CCDS2231.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.804239	0.90623	.	.	ENSG00000073737	ENST00000327239;ENST00000357546;ENST00000432060;ENST00000428522;ENST00000436483;ENST00000412271	D;D;D;D;D;D	0.94497	-3.44;-3.44;-3.44;-3.44;-3.44;-3.44	5.93	5.93	0.95920	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.98359	0.9455	H	0.97491	4.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.99701	1.1004	10	0.87932	D	0	.	16.0558	0.80805	1.0:0.0:0.0:0.0	.	197;137	B7Z416;Q9BPW9	.;DHRS9_HUMAN	H	137;137;197;137;137;137	ENSP00000316670:N137H;ENSP00000350154:N137H;ENSP00000389241:N197H;ENSP00000388564:N137H;ENSP00000407167:N137H;ENSP00000407747:N137H	ENSP00000316670:N137H	N	+	1	0	DHRS9	169648180	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.047000	0.93823	2.281000	0.76405	0.533000	0.62120	AAC		0.488	DHRS9-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333612.3	NM_005771		C	169939934	A	C	169939934	3	2	668	1	0	0	0	0	1	0	0	0	4500	246	9	5	415	5	DHRS9	2	169939934	Missense_Mutation	SNP	A	TCGA-GL-A9DE-01A-11D-A36X-10	16388867	169939934	73259439	17	36570											
MRPL44	65080	hgsc.bcm.edu	37	2	224824598	224824598	+	Missense_Mutation	SNP	A	A	G			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr2:224824598A>G	ENST00000258383.3	+	2	596	c.527A>G	c.(526-528)gAg>gGg	p.E176G		NM_022915.3	NP_075066.1	Q9H9J2	RM44_HUMAN	mitochondrial ribosomal protein L44	176	RNase III.				mitochondrial translational elongation (GO:0070125)|RNA processing (GO:0006396)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008)		TTGGCTGTGGAGCAGTTAACA	0.493																																																0													116	114	114					2																	224824598		2203	4300	6503	SO:0001583	missense	65080			AK022763	CCDS2459.1	2p24.3-p24.1	2012-09-13			ENSG00000135900	ENSG00000135900		"Mitochondrial ribosomal proteins / large subunits"	16650	protein-coding gene	gene with protein product	"39S ribosomal protein L44, mitochondrial"	611849					Standard	NM_022915		Approved	FLJ12701, FLJ13990	uc002vnr.4	Q9H9J2	OTTHUMG00000133164	ENST00000258383.3:c.527A>G	chr2.hg19:g.224824598A>G	ENSP00000258383:p.Glu176Gly		Q53S16|Q6IA62|Q9H821	Missense_Mutation	SNP	ENST00000258383.3	hg19	CCDS2459.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.684531	0.88639	.	.	ENSG00000135900	ENST00000258383	T	0.41400	1.0	5.68	5.68	0.88126	Ribonuclease III (3);	0.157358	0.56097	D	0.000036	T	0.42899	0.1223	M	0.75447	2.3	0.58432	D	0.999996	B	0.27140	0.169	B	0.24848	0.056	T	0.33085	-0.9882	10	0.16420	T	0.52	-0.8659	13.8891	0.63726	1.0:0.0:0.0:0.0	.	176	Q9H9J2	RM44_HUMAN	G	176	ENSP00000258383:E176G	ENSP00000258383:E176G	E	+	2	0	MRPL44	224532842	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.938000	0.75904	2.160000	0.67779	0.519000	0.50382	GAG		0.493	MRPL44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256866.2	NM_022915		G	224824598	A	G	224824598	3	3	668	1	0	0	0	0	1	0	0	0	9810	304	11	3	533	3	MRPL44	2	224824598	Missense_Mutation	SNP	A	TCGA-GL-A9DE-01A-11D-A36X-10	54884664	224824598	18374775	18	36571											
ASB18	401036	hgsc.bcm.edu	37	2	237103670	237103670	+	Missense_Mutation	SNP	C	C	G			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr2:237103670C>G	ENST00000409749.3	-	6	1245	c.1246G>C	c.(1246-1248)Gcc>Ccc	p.A416P	ASB18_ENST00000330842.6_Missense_Mutation_p.A387P|AC079135.1_ENST00000415226.1_RNA|AC079135.1_ENST00000483218.1_RNA	NM_212556.2	NP_997721.2	Q6ZVZ8	ASB18_HUMAN	ankyrin repeat and SOCS box containing 18	416	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					large_intestine(1)|lung(3)|ovary(1)|prostate(1)	6		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)		AGGGCCAAGGCAAAGAGGGAC	0.537																																																0													63	78	73					2																	237103670		2115	4243	6358	SO:0001583	missense	401036			AK123854	CCDS46548.1	2q37.2	2013-01-10	2011-01-25		ENSG00000182177	ENSG00000182177		"Ankyrin repeat domain containing"	19770	protein-coding gene	gene with protein product			"ankyrin repeat and SOCS box-containing 18"			12076535	Standard	NM_212556		Approved		uc010znh.2	Q6ZVZ8	OTTHUMG00000153086	ENST00000409749.3:c.1246G>C	chr2.hg19:g.237103670C>G	ENSP00000386532:p.Ala416Pro		B6ZDL7	Missense_Mutation	SNP	ENST00000409749.3	hg19	CCDS46548.1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.606949	0.46527	.	.	ENSG00000182177	ENST00000330842;ENST00000409749	T;T	0.39592	1.07;1.14	4.65	2.62	0.31277	SOCS protein, C-terminal (1);	.	.	.	.	T	0.52853	0.1760	M	0.68593	2.085	0.09310	N	1	D	0.71674	0.998	D	0.64321	0.924	T	0.36114	-0.9761	9	0.42905	T	0.14	.	4.0084	0.09611	0.1654:0.5748:0.1613:0.0985	.	416	Q6ZVZ8	ASB18_HUMAN	P	387;416	ENSP00000329970:A387P;ENSP00000386532:A416P	ENSP00000329970:A387P	A	-	1	0	ASB18	236768409	0.017000	0.18338	0.127000	0.21898	0.760000	0.43138	0.042000	0.13949	1.127000	0.42034	0.561000	0.74099	GCC		0.537	ASB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329436.1	NM_212556		G	237103670	C	G	237103670	3	3	668	1	0	0	0	0	1	0	0	0	1022	710	25	4	157	4	ASB18	2	237103670	Missense_Mutation	SNP	C	TCGA-GL-A9DE-01A-11D-A36X-10	12279072	237103670	6095703	19	36572											
IQCA1	79781	hgsc.bcm.edu	37	2	237240213	237240213	+	Missense_Mutation	SNP	T	T	C			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr2:237240213T>C	ENST00000409907.3	-	18	2436	c.2162A>G	c.(2161-2163)aAt>aGt	p.N721S	IQCA1_ENST00000309507.5_Missense_Mutation_p.N718S|IQCA1_ENST00000431676.2_Missense_Mutation_p.N680S	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	721							ATP binding (GO:0005524)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						GACTCCTCCATTGCGTTCAAT	0.498																																																0													60	59	59					2																	237240213		2009	4175	6184	SO:0001583	missense	79781			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.2162A>G	chr2.hg19:g.237240213T>C	ENSP00000387347:p.Asn721Ser		B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	Missense_Mutation	SNP	ENST00000409907.3	hg19	CCDS46549.1	.	.	.	.	.	.	.	.	.	.	T	0.008	-1.878792	0.00537	.	.	ENSG00000132321	ENST00000409907;ENST00000457693;ENST00000309507;ENST00000431676	D;D;D	0.87887	-2.31;-2.31;-2.31	5.23	1.1	0.20463	.	1.245700	0.05677	N	0.589728	D	0.84074	0.5392	M	0.67953	2.075	0.09310	N	1	B;B;B	0.23128	0.017;0.044;0.08	B;B;B	0.23275	0.028;0.045;0.045	T	0.64993	-0.6276	10	0.30854	T	0.27	.	4.8923	0.13733	0.1115:0.0725:0.1289:0.6871	.	680;729;721	E7EWQ0;E9PH78;Q86XH1	.;.;IQCA1_HUMAN	S	721;729;718;680	ENSP00000387347:N721S;ENSP00000311951:N718S;ENSP00000407213:N680S	ENSP00000311951:N718S	N	-	2	0	IQCA1	236904952	0.059000	0.20769	0.000000	0.03702	0.153000	0.21895	1.431000	0.34925	0.289000	0.22422	0.533000	0.62120	AAT		0.498	IQCA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000329266.1	NM_024726		C	237240213	T	C	237240213	3	2	668	1	0	0	0	0	1	0	0	0	7804	1493	52	3	314	3	IQCA1	2	237240213	Missense_Mutation	SNP	T	TCGA-GL-A9DE-01A-11D-A36X-10	136543	237240213	5959160	20	36573											
SETD2	29072	hgsc.bcm.edu	37	3	47058730	47058730	+	Frame_Shift_Del	DEL	A	A	-			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr3:47058730delA	ENST00000409792.3	-	21	7590	c.7548delT	c.(7546-7548)gttfs	p.V2516fs		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2516	Interaction with POLR2A.				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)		CCTTATTCATAACACCGTGAG	0.473			"N, F, S, Mis"		clear cell renal carcinoma																																		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0													135	122	126					3																	47058730		2203	4300	6503	SO:0001589	frameshift_variant	29072			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.7548delT	chr3.hg19:g.47058730delA	ENSP00000386759:p.Val2516fs		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Frame_Shift_Del	DEL	ENST00000409792.3	hg19	CCDS2749.2																																																																																				0.473	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		-	47058730	A	-	47058730	7	5	668	1	0	1	0	1	0	0	0	0	14137	349	13	0	150	0	SETD2	3	47058730	Frame_Shift_Del	DEL	A	TCGA-GL-A9DE-01A-11D-A36X-10		47058730	150963700	21	36574	274	3									
SETD2	29072	hgsc.bcm.edu	37	3	47058731	47058732	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	AC	AC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr3:47058731_47058732delAC	ENST00000409792.3	-	21	7588_7589	c.7546_7547delGT	c.(7546-7548)gttfs	p.V2516fs		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2516	Interaction with POLR2A.				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)		CTTATTCATAACACCGTGAGTC	0.48			"N, F, S, Mis"		clear cell renal carcinoma																																		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0																																										SO:0001589	frameshift_variant	29072			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.7546_7547delGT	chr3.hg19:g.47058733_47058734delAC	ENSP00000386759:p.Val2516fs		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Frame_Shift_Del	DEL	ENST00000409792.3	hg19	CCDS2749.2																																																																																				0.48	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		-	47058732	AC	-	47058731	7	5	668	1	0	1	0	1	0	0	0	0	14137	43	2	0	151	0	SETD2	3	47058731	Frame_Shift_Del	DEL	AC	TCGA-GL-A9DE-01A-11D-A36X-10	1	47058731	150963699	22	36575	274	3									
SETD2	29072	hgsc.bcm.edu	37	3	47058732	47058732	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr3:47058732C>T	ENST00000409792.3	-	21	7588	c.7546G>A	c.(7546-7548)Gtt>Att	p.V2516I		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2516	Interaction with POLR2A.				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)		TTATTCATAACACCGTGAGTC	0.478			"N, F, S, Mis"		clear cell renal carcinoma																																		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0													132	119	124					3																	47058732		2203	4300	6503	SO:0001583	missense	29072			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.7546G>A	chr3.hg19:g.47058732C>T	ENSP00000386759:p.Val2516Ile		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	hg19	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	C	25.9	4.684790	0.88639	.	.	ENSG00000181555	ENST00000451092;ENST00000409792	D	0.91631	-2.88	5.14	5.14	0.70334	SRI, Set2 Rpb1 interacting (1);	0.000000	0.48286	D	0.000195	D	0.93413	0.7899	N	0.21448	0.665	0.80722	D	1	B;P	0.38863	0.037;0.65	B;D	0.64687	0.438;0.928	D	0.92291	0.5841	10	0.36615	T	0.2	.	18.7829	0.91941	0.0:1.0:0.0:0.0	.	2516;2516	F2Z317;Q9BYW2	.;SETD2_HUMAN	I	2516	ENSP00000386759:V2516I	ENSP00000386759:V2516I	V	-	1	0	SETD2	47033736	1.000000	0.71417	0.908000	0.35775	0.994000	0.84299	7.562000	0.82300	2.668000	0.90789	0.655000	0.94253	GTT		0.478	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		T	47058732	C	T	47058732	3	4	668	1	0	0	0	0	1	0	0	0	14137	478	17	2	152	2	SETD2	3	47058732	Missense_Mutation	SNP	C	TCGA-GL-A9DE-01A-11D-A36X-10	1	47058732	150963698	23	36576	274	3									
PBRM1	55193	hgsc.bcm.edu	37	3	52678783	52678784	+	Frame_Shift_Ins	INS	-	-	T	rs369874660		TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr3:52678783_52678784insT	ENST00000296302.7	-	8	836_837	c.835_836insA	c.(835-837)atafs	p.I279fs	PBRM1_ENST00000410007.1_Frame_Shift_Ins_p.I279fs|PBRM1_ENST00000409057.1_Frame_Shift_Ins_p.I279fs|PBRM1_ENST00000356770.4_Frame_Shift_Ins_p.I279fs|PBRM1_ENST00000409114.3_Frame_Shift_Ins_p.I279fs|PBRM1_ENST00000394830.3_Frame_Shift_Ins_p.I279fs|PBRM1_ENST00000337303.4_Frame_Shift_Ins_p.I279fs|PBRM1_ENST00000409767.1_Frame_Shift_Ins_p.I279fs			Q86U86	PB1_HUMAN	polybromo 1	279					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)	p.I279fs*4(7)		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)		Catataaaatatttttttaatt	0.361			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	7	Deletion - Frameshift(7)	kidney(7)																																								SO:0001589	frameshift_variant	55193			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.836dupA	chr3.hg19:g.52678790_52678790dupT	ENSP00000296302:p.Ile279fs		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Ins	INS	ENST00000296302.7	hg19																																																																																					0.361	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		T	52678784	-	T	52678783	7	5	668	1	0	1	1	0	0	0	0	0	11493	449	16	0	4156	0	PBRM1	3	52678783	Frame_Shift_Ins	INS	-	TCGA-GL-A9DE-01A-11D-A36X-10	5620051	52678783	145343647	24	36577											
LRIG1	26018	hgsc.bcm.edu	37	3	66431274	66431274	+	Frame_Shift_Del	DEL	G	G	-	rs375884681		TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr3:66431274delG	ENST00000273261.3	-	18	3306	c.2782delC	c.(2782-2784)cggfs	p.R928fs	LRIG1_ENST00000496559.2_5'UTR|SLC25A26_ENST00000536651.1_3'UTR|LRIG1_ENST00000383703.3_Frame_Shift_Del_p.R905fs	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	928					innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		CATACGACCCGGCCACCGTGT	0.597																																																0													51	54	53					3																	66431274		2203	4300	6503	SO:0001589	frameshift_variant	26018			AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"Immunoglobulin superfamily / I-set domain containing"	17360	protein-coding gene	gene with protein product	"ortholog of mouse integral membrane glycoprotein LIG-1", "leucine-rich repeat protein LRIG1"	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.2782delC	chr3.hg19:g.66431274delG	ENSP00000273261:p.Arg928fs		Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Frame_Shift_Del	DEL	ENST00000273261.3	hg19	CCDS33783.1																																																																																				0.597	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		-	66431274	G	-	66431274	7	5	668	1	0	1	0	1	0	0	0	0	8946	1115	39	0	507	0	LRIG1	3	66431274	Frame_Shift_Del	DEL	G	TCGA-GL-A9DE-01A-11D-A36X-10	13752491	66431274	131591156	25	36578											
DNAJB8	165721	hgsc.bcm.edu	37	3	128181520	128181520	+	Missense_Mutation	SNP	T	T	C			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr3:128181520T>C	ENST00000469083.1	-	2	3126	c.569A>G	c.(568-570)aAt>aGt	p.N190S	DNAJB8_ENST00000319153.3_Missense_Mutation_p.N190S|DNAJB8-AS1_ENST00000471626.1_RNA			Q8NHS0	DNJB8_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 8	190					chaperone-mediated protein folding (GO:0061077)|negative regulation of inclusion body assembly (GO:0090084)	cytosol (GO:0005829)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|protein binding involved in protein folding (GO:0044183)|unfolded protein binding (GO:0051082)			kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		CTTGTGGCCATTGATCATCTC	0.622																																																0													139	116	124					3																	128181520		2203	4300	6503	SO:0001583	missense	165721				CCDS3048.1	3q21.3	2014-01-21			ENSG00000179407	ENSG00000179407		"Heat shock proteins / DNAJ (HSP40)"	23699	protein-coding gene	gene with protein product		611337					Standard	NM_153330		Approved	MGC33884, CT156	uc003ekk.2	Q8NHS0	OTTHUMG00000159690	ENST00000469083.1:c.569A>G	chr3.hg19:g.128181520T>C	ENSP00000417418:p.Asn190Ser		B3KWV7	Missense_Mutation	SNP	ENST00000469083.1	hg19	CCDS3048.1	.	.	.	.	.	.	.	.	.	.	T	15.57	2.872026	0.51695	.	.	ENSG00000179407	ENST00000469083;ENST00000319153	T;T	0.41400	1.0;1.0	4.75	4.75	0.60458	.	0.000000	0.85682	D	0.000000	T	0.64713	0.2623	M	0.91140	3.18	0.58432	D	0.999995	D	0.61080	0.989	P	0.55391	0.775	T	0.74281	-0.3716	10	0.72032	D	0.01	.	12.8323	0.57752	0.0:0.0:0.0:1.0	.	190	Q8NHS0	DNJB8_HUMAN	S	190	ENSP00000417418:N190S;ENSP00000316053:N190S	ENSP00000316053:N190S	N	-	2	0	DNAJB8	129664210	1.000000	0.71417	0.531000	0.27976	0.053000	0.15095	4.000000	0.57039	1.772000	0.52199	0.459000	0.35465	AAT		0.622	DNAJB8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356933.1	NM_153330		C	128181520	T	C	128181520	3	2	668	1	0	0	0	0	1	0	0	0	4628	1493	52	3	133	3	DNAJB8	3	128181520	Missense_Mutation	SNP	T	TCGA-GL-A9DE-01A-11D-A36X-10	61750246	128181520	69840910	26	36579											
TMCC1	23023	hgsc.bcm.edu	37	3	129390024	129390024	+	Silent	SNP	A	A	T			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr3:129390024A>T	ENST00000393238.3	-	4	1000	c.660T>A	c.(658-660)tcT>tcA	p.S220S	TMCC1_ENST00000432054.2_5'UTR|TMCC1_ENST00000329333.5_Silent_p.S41S|TMCC1_ENST00000426664.2_Silent_p.S106S	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	220						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						TTCCATCCACAGAGTCTGTGT	0.507																																																0													112	108	109					3																	129390024		2203	4300	6503	SO:0001819	synonymous_variant	23023			AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"Transmembrane and coiled-coil domain containing"	29116	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 1"			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.660T>A	chr3.hg19:g.129390024A>T			A8K5Y3|B4DE04|Q68E06|Q8IXM8	Silent	SNP	ENST00000393238.3	hg19	CCDS33855.1																																																																																				0.507	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		T	129390024	A	T	129390024	2	4	668	1	0	0	0	0	0	0	0	1	15997	175	7	5		5	TMCC1	3	129390024	Silent	SNP	A	TCGA-GL-A9DE-01A-11D-A36X-10	1208504	129390024	68632406	27	36580											
EVC	2121	hgsc.bcm.edu	37	4	5812077	5812077	+	Silent	SNP	A	A	C			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr4:5812077A>C	ENST00000264956.6	+	20	2978	c.2794A>C	c.(2794-2796)Agg>Cgg	p.R932R	EVC_ENST00000382674.2_Silent_p.R932R	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	932					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)				GAAGCCCCTAAGGACTAAAAG	0.562																																																0													41	45	44					4																	5812077		2203	4299	6502	SO:0001819	synonymous_variant	2121			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.2794A>C	chr4.hg19:g.5812077A>C				Silent	SNP	ENST00000264956.6	hg19	CCDS3383.1																																																																																				0.562	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1			C	5812077	A	C	5812077	2	2	668	1	0	0	0	0	0	0	0	1	5287	63	3	5		5	EVC	4	5812077	Silent	SNP	A	TCGA-GL-A9DE-01A-11D-A36X-10		5812077	185342199	28	36581											
CCNI	10983	hgsc.bcm.edu	37	4	77969741	77969741	+	Silent	SNP	A	A	G			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr4:77969741A>G	ENST00000237654.4	-	7	1341	c.765T>C	c.(763-765)ccT>ccC	p.P255P	CCNI_ENST00000537948.1_Silent_p.P241P	NM_006835.2	NP_006826.1	Q14094	CCNI_HUMAN	cyclin I	255					regulation of cell cycle (GO:0051726)|spermatogenesis (GO:0007283)					NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9						CGGAATTCAGAGGCAGGGAAG	0.517																																																0													84	77	79					4																	77969741		2203	4300	6503	SO:0001819	synonymous_variant	10983			D50310	CCDS3580.1	4q21.1	2014-07-03			ENSG00000118816	ENSG00000118816			1595	protein-coding gene	gene with protein product						7493655	Standard	NM_006835		Approved	CCNI1	uc003hkm.3	Q14094	OTTHUMG00000130106	ENST00000237654.4:c.765T>C	chr4.hg19:g.77969741A>G			B2R6M0|B7Z6X4	Silent	SNP	ENST00000237654.4	hg19	CCDS3580.1	.	.	.	.	.	.	.	.	.	.	A	7.455	0.643541	0.14451	.	.	ENSG00000118816	ENST00000515468	.	.	.	5.9	5.9	0.94986	.	.	.	.	.	T	0.48409	0.1498	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53337	-0.8453	4	.	.	.	-12.2282	3.2125	0.06687	0.6383:0.1553:0.0749:0.1315	.	.	.	.	P	55	.	.	S	-	1	0	CCNI	78188765	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.896000	0.28377	2.251000	0.74343	0.528000	0.53228	TCT		0.517	CCNI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252412.2	NM_006835		G	77969741	A	G	77969741	2	3	668	1	0	0	0	0	0	0	0	1	2928	291	11	3		3	CCNI	4	77969741	Silent	SNP	A	TCGA-GL-A9DE-01A-11D-A36X-10	72157664	77969741	113184535	29	36582											
PTPN13	5783	hgsc.bcm.edu	37	4	87671752	87671752	+	Missense_Mutation	SNP	T	T	C			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr4:87671752T>C	ENST00000411767.2	+	18	2843	c.2780T>C	c.(2779-2781)gTt>gCt	p.V927A	PTPN13_ENST00000511467.1_Missense_Mutation_p.V927A|PTPN13_ENST00000427191.2_Missense_Mutation_p.V927A|PTPN13_ENST00000436978.1_Missense_Mutation_p.V927A|PTPN13_ENST00000316707.6_Intron			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	927					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)		CCTTTATCAGTTCAAGCTGAG	0.468																																																0													80	80	80					4																	87671752		1971	4165	6136	SO:0001583	missense	5783				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.2780T>C	chr4.hg19:g.87671752T>C	ENSP00000407249:p.Val927Ala		B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	hg19	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	T	13.05	2.120999	0.37436	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T	0.54071	0.59;0.63;0.6;0.63	6.16	3.78	0.43462	.	0.291309	0.24089	N	0.041646	T	0.47857	0.1468	L	0.57536	1.79	0.23101	N	0.99829	B;B;B	0.16166	0.016;0.016;0.012	B;B;B	0.15870	0.014;0.004;0.009	T	0.45920	-0.9228	10	0.62326	D	0.03	.	10.2207	0.43194	0.0:0.1317:0.0:0.8683	.	927;927;927	Q12923-3;Q12923;Q12923-4	.;PTN13_HUMAN;.	A	927;927;927;927;895	ENSP00000408368:V927A;ENSP00000394794:V927A;ENSP00000407249:V927A;ENSP00000426626:V927A	ENSP00000349909:V895A	V	+	2	0	PTPN13	87890776	0.771000	0.28555	0.936000	0.37596	0.976000	0.68499	2.231000	0.43009	0.584000	0.29591	0.528000	0.53228	GTT		0.468	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			C	87671752	T	C	87671752	3	2	668	1	0	0	0	0	1	0	0	0	12788	1725	60	3	2846	3	PTPN13	4	87671752	Missense_Mutation	SNP	T	TCGA-GL-A9DE-01A-11D-A36X-10	9702011	87671752	103482524	30	36583											
KIAA1109	84162	hgsc.bcm.edu	37	4	123226024	123226024	+	Missense_Mutation	SNP	A	A	C			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr4:123226024A>C	ENST00000264501.4	+	56	9931	c.9558A>C	c.(9556-9558)gaA>gaC	p.E3186D	KIAA1109_ENST00000455637.1_Missense_Mutation_p.E3186D|KIAA1109_ENST00000388738.3_Missense_Mutation_p.E3186D			Q2LD37	K1109_HUMAN	KIAA1109	3186					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						TTGAACTGGAACTTTCTAACC	0.398																																																0													106	98	101					4																	123226024		1837	4090	5927	SO:0001583	missense	84162			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.9558A>C	chr4.hg19:g.123226024A>C	ENSP00000264501:p.Glu3186Asp		Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	hg19	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.3|21.3	4.131217|4.131217	0.77549|0.77549	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637|ENST00000419325	T;T;T|.	0.32272|.	1.46;1.46;1.46|.	5.81|5.81	0.65|0.65	0.17812|0.17812	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.53546|0.53546	0.1803|0.1803	L|L	0.55481|0.55481	1.735|1.735	0.31761|0.31761	N|N	0.63333|0.63333	P;D|.	0.67145|.	0.949;0.996|.	P;P|.	0.54499|.	0.717;0.754|.	T|T	0.59026|0.59026	-0.7531|-0.7531	10|5	0.62326|.	D|.	0.03|.	.|.	11.3914|11.3914	0.49817|0.49817	0.6293:0.0:0.3707:0.0|0.6293:0.0:0.3707:0.0	.|.	3186;3186|.	Q2LD37-6;Q2LD37|.	.;K1109_HUMAN|.	D|P	3186|1144	ENSP00000264501:E3186D;ENSP00000373390:E3186D;ENSP00000389925:E3186D|.	ENSP00000264501:E3186D|.	E|T	+|+	3|1	2|0	KIAA1109|KIAA1109	123445474|123445474	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.040000|1.040000	0.30278|0.30278	0.146000|0.146000	0.19002|0.19002	0.454000|0.454000	0.30748|0.30748	GAA|ACT		0.398	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		C	123226024	A	C	123226024	3	2	668	1	0	0	0	0	1	0	0	0	8210	40	2	5	9772	5	KIAA1109	4	123226024	Missense_Mutation	SNP	A	TCGA-GL-A9DE-01A-11D-A36X-10	35554272	123226024	67928252	31	36584											
ANXA10	11199	hgsc.bcm.edu	37	4	169099042	169099042	+	Splice_Site	SNP	T	T	C			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr4:169099042T>C	ENST00000359299.3	+	8	722	c.536T>C	c.(535-537)gTc>gCc	p.V179A		NM_007193.4	NP_009124.2	Q9UJ72	ANX10_HUMAN	annexin A10	179						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)		ATGTTCCAGGTCCTATGGGAA	0.498																																																0													125	119	121					4																	169099042		2203	4300	6503	SO:0001630	splice_region_variant	11199			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.535-1T>C	chr4.hg19:g.169099042T>C			Q96IQ5|Q9UJV4	Missense_Mutation	SNP	ENST00000359299.3	hg19	CCDS34096.1	.	.	.	.	.	.	.	.	.	.	T	9.052	0.992269	0.18966	.	.	ENSG00000109511	ENST00000359299;ENST00000393751	T	0.10382	2.88	5.66	5.66	0.87406	.	0.093082	0.47093	D	0.000246	T	0.06325	0.0163	N	0.01800	-0.715	0.58432	D	0.999996	P;P	0.45634	0.863;0.656	P;B	0.48227	0.571;0.253	T	0.45804	-0.9236	10	0.07030	T	0.85	.	15.8919	0.79305	0.0:0.0:0.0:1.0	.	51;179	Q6ITU8;Q9UJ72	.;ANX10_HUMAN	A	179	ENSP00000352248:V179A	ENSP00000352248:V179A	V	+	2	0	ANXA10	169335617	1.000000	0.71417	1.000000	0.80357	0.613000	0.37349	5.611000	0.67674	2.168000	0.68352	0.533000	0.62120	GTC		0.498	ANXA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364348.2	NM_007193	Missense_Mutation	C	169099042	T	C	169099042	5	2	668	1	0	0	0	0	0	0	1	0	715	1681	58	3	566	3	ANXA10	4	169099042	Splice_Site	SNP	T	TCGA-GL-A9DE-01A-11D-A36X-10	45873018	169099042	22055234	32	36585											
MCC	4163	hgsc.bcm.edu	37	5	112399744	112399744	+	Missense_Mutation	SNP	G	G	C	rs147869500		TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr5:112399744G>C	ENST00000302475.4	-	12	2143	c.1580C>G	c.(1579-1581)gCc>gGc	p.A527G	MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_Missense_Mutation_p.A717G|MCC_ENST00000515367.2_Missense_Mutation_p.A464G	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	527					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)		CACGGCAAAGGCTCCCCCACA	0.617																																																0													59	57	58					5																	112399744		2202	4300	6502	SO:0001583	missense	4163				CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"EF-hand domain containing"	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.1580C>G	chr5.hg19:g.112399744G>C	ENSP00000305617:p.Ala527Gly		D3DT05|Q6ZR04	Missense_Mutation	SNP	ENST00000302475.4	hg19	CCDS4111.1	.	.	.	.	.	.	.	.	.	.	G	18.54	3.646288	0.67358	.	.	ENSG00000171444	ENST00000302475;ENST00000515367;ENST00000408903	T;T;T	0.35789	2.46;2.46;1.29	5.61	5.61	0.85477	.	0.056778	0.64402	D	0.000002	T	0.29783	0.0744	N	0.19112	0.55	0.80722	D	1	B;B;B	0.31817	0.231;0.341;0.231	B;B;B	0.35971	0.107;0.215;0.074	T	0.05131	-1.0904	10	0.20046	T	0.44	-12.5962	19.638	0.95744	0.0:0.0:1.0:0.0	.	527;717;527	B7Z6G0;P23508-2;P23508	.;.;CRCM_HUMAN	G	527;464;717	ENSP00000305617:A527G;ENSP00000421615:A464G;ENSP00000386227:A717G	ENSP00000305617:A527G	A	-	2	0	MCC	112427643	1.000000	0.71417	0.744000	0.31058	0.703000	0.40648	7.743000	0.85020	2.626000	0.88956	0.655000	0.94253	GCC		0.617	MCC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250736.3	NM_001085377		C	112399744	G	C	112399744	3	2	668	1	0	0	0	0	1	0	0	0	9375	1203	42	4	933	4	MCC	5	112399744	Missense_Mutation	SNP	G	TCGA-GL-A9DE-01A-11D-A36X-10		112399744	68515516	33	36586											
SNCAIP	9627	hgsc.bcm.edu	37	5	121786598	121786598	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr5:121786598G>T	ENST00000261368.8	+	10	2318	c.2056G>T	c.(2056-2058)Gag>Tag	p.E686*	CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000261367.7_Nonsense_Mutation_p.E733*|SNCAIP_ENST00000542191.1_Nonsense_Mutation_p.E244*|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000504884.2_3'UTR|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000414317.2_Nonsense_Mutation_p.E288*|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000379533.2_Nonsense_Mutation_p.E733*|SNCAIP_ENST00000379536.2_Nonsense_Mutation_p.E626*|SNCAIP_ENST00000379538.3_Nonsense_Mutation_p.E320*|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000503116.2_3'UTR	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	686					cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CAACAACTCTGAGGACCCCAA	0.537																																																0													53	54	54					5																	121786598		2203	4300	6503	SO:0001587	stop_gained	9627			AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"Ankyrin repeat domain containing"	11139	protein-coding gene	gene with protein product	"synphilin"	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.2056G>T	chr5.hg19:g.121786598G>T	ENSP00000261368:p.Glu686*		D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Nonsense_Mutation	SNP	ENST00000261368.8	hg19	CCDS4131.1	.	.	.	.	.	.	.	.	.	.	G	40	8.438364	0.98810	.	.	ENSG00000064692	ENST00000542191;ENST00000509154;ENST00000261368;ENST00000379533;ENST00000379536;ENST00000379538;ENST00000261367;ENST00000414317;ENST00000447854	.	.	.	6.06	6.06	0.98353	.	0.049549	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-32.5971	20.6208	0.99490	0.0:0.0:1.0:0.0	.	.	.	.	X	244;626;686;733;626;320;733;288;326	.	ENSP00000261367:E733X	E	+	1	0	SNCAIP	121814497	1.000000	0.71417	0.979000	0.43373	0.934000	0.57294	9.194000	0.94962	2.882000	0.98803	0.655000	0.94253	GAG		0.537	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250888.1			T	121786598	G	T	121786598	4	4	668	1	0	0	0	0	0	1	0	0	14847	1291	45	4	2090	4	SNCAIP	5	121786598	Nonsense_Mutation	SNP	G	TCGA-GL-A9DE-01A-11D-A36X-10	9386854	121786598	59128662	34	36587											
RNF14	9604	hgsc.bcm.edu	37	5	141354465	141354465	+	Missense_Mutation	SNP	C	C	A			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr5:141354465C>A	ENST00000394520.2	+	4	560	c.251C>A	c.(250-252)cCa>cAa	p.P84Q	RNF14_ENST00000502341.1_Intron|RNF14_ENST00000394514.2_Intron|RNF14_ENST00000394515.3_Missense_Mutation_p.P84Q|RNF14_ENST00000356143.1_Missense_Mutation_p.P84Q|RNF14_ENST00000347642.3_Missense_Mutation_p.P84Q|RNF14_ENST00000540015.1_Intron|RNF14_ENST00000394519.1_Missense_Mutation_p.P84Q|AC005740.5_ENST00000520882.1_RNA	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	ring finger protein 14	84	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.				androgen receptor signaling pathway (GO:0030521)|positive regulation of transcription, DNA-templated (GO:0045893)|protein ubiquitination (GO:0016567)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|small conjugating protein ligase activity (GO:0019787)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		CCAGATTATCCATCCTCTTCC	0.408																																																0													178	160	166					5																	141354465		2203	4300	6503	SO:0001583	missense	9604			AF060544	CCDS4270.1, CCDS4271.1	5q23.3-q31.1	2008-02-05			ENSG00000013561	ENSG00000013561		"RING-type (C3HC4) zinc fingers"	10058	protein-coding gene	gene with protein product		605675				10085091, 10320776	Standard	NM_183399		Approved	ARA54, HFB30, TRIAD2	uc003lmc.3	Q9UBS8	OTTHUMG00000129660	ENST00000394520.2:c.251C>A	chr5.hg19:g.141354465C>A	ENSP00000378028:p.Pro84Gln		A0AV26|A6NMR2|A8MTW5|B3KN72|B7ZLV2|D3DQE4|O94793|Q6IBV0	Missense_Mutation	SNP	ENST00000394520.2	hg19	CCDS4270.1	.	.	.	.	.	.	.	.	.	.	C	32	5.149590	0.94645	.	.	ENSG00000013561	ENST00000511961;ENST00000506822;ENST00000513019;ENST00000356143;ENST00000394520;ENST00000347642;ENST00000506938;ENST00000394515;ENST00000507163;ENST00000394519	D;D;D;D;D;D;D;D;D;D	0.93763	-3.28;-3.28;-3.28;-3.28;-3.28;-3.28;-3.28;-3.28;-3.28;-3.28	5.87	5.87	0.94306	Ubiquitin-conjugating enzyme/RWD-like (2);RWD domain (3);	0.000000	0.85682	D	0.000000	D	0.98055	0.9359	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	0.98607	1.0661	10	0.87932	D	0	.	20.2084	0.98285	0.0:1.0:0.0:0.0	.	84;84	B7Z229;Q9UBS8	.;RNF14_HUMAN	Q	84	ENSP00000423420:P84Q;ENSP00000423273:P84Q;ENSP00000421780:P84Q;ENSP00000348462:P84Q;ENSP00000378028:P84Q;ENSP00000324956:P84Q;ENSP00000420837:P84Q;ENSP00000378023:P84Q;ENSP00000422527:P84Q;ENSP00000378027:P84Q	ENSP00000324956:P84Q	P	+	2	0	RNF14	141334649	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.762000	0.85270	2.774000	0.95407	0.650000	0.86243	CCA		0.408	RNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251860.2	NM_004290		A	141354465	C	A	141354465	3	1	668	1	0	0	0	0	1	0	0	0	13449	594	21	4	257	4	RNF14	5	141354465	Missense_Mutation	SNP	C	TCGA-GL-A9DE-01A-11D-A36X-10	19567867	141354465	39560795	35	36588											
KIF4B	285643	hgsc.bcm.edu	37	5	154395330	154395330	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr5:154395330delC	ENST00000435029.4	+	1	2071	c.1911delC	c.(1909-1911)aacfs	p.N637fs		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	637					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)			CCAAGCTGAACCAAGAGATAT	0.418																																																0													154	150	151					5																	154395330		2203	4300	6503	SO:0001589	frameshift_variant	285643			AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"Kinesins"	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.1911delC	chr5.hg19:g.154395330delC	ENSP00000387875:p.Asn637fs			Frame_Shift_Del	DEL	ENST00000435029.4	hg19	CCDS47324.1																																																																																				0.418	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			-	154395330	C	-	154395330	7	5	668	1	0	1	0	1	0	0	0	0	8306	506	18	0	1913	0	KIF4B	5	154395330	Frame_Shift_Del	DEL	C	TCGA-GL-A9DE-01A-11D-A36X-10	13040865	154395330	26519930	36	36589											
FOXQ1	94234	hgsc.bcm.edu	37	6	1313368	1313368	+	Silent	SNP	G	G	T			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr6:1313368G>T	ENST00000296839.2	+	1	694	c.429G>T	c.(427-429)gcG>gcT	p.A143A		NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN	forkhead box Q1	143					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)		TGACGCTGGCGGAGATCAACG	0.647																																																0																																										SO:0001819	synonymous_variant	94234			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.429G>T	chr6.hg19:g.1313368G>T			Q9NS06	Silent	SNP	ENST00000296839.2	hg19	CCDS4471.1																																																																																				0.647	FOXQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043410.1	NM_033260		T	1313368	G	T	1313368	2	4	668	1	0	0	0	0	0	0	0	1	6032	1103	39	4		4	FOXQ1	6	1313368	Silent	SNP	G	TCGA-GL-A9DE-01A-11D-A36X-10		1313368	169801699	37	36590											
RIOK1	83732	hgsc.bcm.edu	37	6	7395375	7395375	+	Splice_Site	SNP	A	A	G			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr6:7395375A>G	ENST00000379834.2	+	3	873	c.366A>G	c.(364-366)ttA>ttG	p.L122L		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	122							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					AAATTAATTTAGGTGAGTTTA	0.388																																																0													35	33	33					6																	7395375		2203	4300	6503	SO:0001630	splice_region_variant	83732			BC006104	CCDS4500.1	6p24.3	2012-12-10	2012-12-10		ENSG00000124784	ENSG00000124784			18656	protein-coding gene	gene with protein product			"RIO kinase 1 (yeast)"				Standard	NM_031480		Approved	AD034, FLJ30006, bA288G3.1, RRP10	uc003mxn.3	Q9BRS2	OTTHUMG00000014207	ENST00000379834.2:c.367+1A>G	chr6.hg19:g.7395375A>G			B2RB28|Q8NDC8|Q96NV9	Silent	SNP	ENST00000379834.2	hg19	CCDS4500.1																																																																																				0.388	RIOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039780.2	NM_031480	Silent	G	7395375	A	G	7395375	5	3	668	1	0	0	0	0	0	0	1	0	13383	434	15	3	376	3	RIOK1	6	7395375	Splice_Site	SNP	A	TCGA-GL-A9DE-01A-11D-A36X-10	6082007	7395375	163719692	38	36591											
KIAA0408	9729	hgsc.bcm.edu	37	6	127767703	127767703	+	Missense_Mutation	SNP	A	A	C			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr6:127767703A>C	ENST00000483725.3	-	5	2097	c.1761T>G	c.(1759-1761)aaT>aaG	p.N587K	SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	587										endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		ATTTGGTCCAATTATCCTGGA	0.413																																																0													133	122	126					6																	127767703		2203	4300	6503	SO:0001583	missense	9729			AB007868	CCDS34531.1	6q22.33	2012-11-29			ENSG00000189367	ENSG00000189367			21636	protein-coding gene	gene with protein product							Standard	NM_014702		Approved		uc011ebs.2	Q6ZU52	OTTHUMG00000166439	ENST00000483725.3:c.1761T>G	chr6.hg19:g.127767703A>C	ENSP00000435150:p.Asn587Lys		B3KRE5|E1P573|O43158|Q5TF20|Q7L2M2	Missense_Mutation	SNP	ENST00000483725.3	hg19	CCDS34531.1	.	.	.	.	.	.	.	.	.	.	A	0.008	-1.932558	0.00488	.	.	ENSG00000189367	ENST00000483725	T	0.22743	1.94	5.08	-6.14	0.02111	.	0.584041	0.13305	N	0.397945	T	0.01558	0.0050	N	0.19112	0.55	0.19300	N	0.999973	B	0.11235	0.004	B	0.08055	0.003	T	0.41840	-0.9486	10	0.02654	T	1	-2.2349	0.2684	0.00228	0.3125:0.2598:0.1825:0.2452	.	587	Q6ZU52	K0408_HUMAN	K	587	ENSP00000435150:N587K	ENSP00000435150:N587K	N	-	3	2	KIAA0408	127809396	0.518000	0.26234	0.068000	0.19968	0.016000	0.09150	-0.308000	0.08156	-0.860000	0.04099	-1.139000	0.01908	AAT		0.413	KIAA0408-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042145.3	NM_014702		C	127767703	A	C	127767703	3	2	668	1	0	0	0	0	1	0	0	0	8176	98	4	5	331	5	KIAA0408	6	127767703	Missense_Mutation	SNP	A	TCGA-GL-A9DE-01A-11D-A36X-10	120372328	127767703	43347364	39	36592											
GPNMB	10457	hgsc.bcm.edu	37	7	23300201	23300201	+	Missense_Mutation	SNP	A	A	G			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr7:23300201A>G	ENST00000381990.2	+	6	988	c.827A>G	c.(826-828)tAt>tGt	p.Y276C	GPNMB_ENST00000453162.2_Missense_Mutation_p.Y218C|GPNMB_ENST00000258733.4_Missense_Mutation_p.Y276C|GPNMB_ENST00000539136.1_Missense_Mutation_p.Y177C	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	276	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.				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)			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)			TTCCTCAATTATTCTACCATT	0.423																																																0													177	169	171					7																	23300201		2203	4300	6503	SO:0001583	missense	10457			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.827A>G	chr7.hg19:g.23300201A>G	ENSP00000371420:p.Tyr276Cys		A4D155|Q6UVX1|Q8N1A1	Missense_Mutation	SNP	ENST00000381990.2	hg19	CCDS34610.1	.	.	.	.	.	.	.	.	.	.	A	15.34	2.803374	0.50315	.	.	ENSG00000136235	ENST00000258733;ENST00000435486;ENST00000381990;ENST00000425903;ENST00000539136;ENST00000453162	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.31	2.72	0.32119	PKD/Chitinase domain (1);PKD domain (2);	1.009820	0.07941	N	0.979323	T	0.43612	0.1255	N	0.22421	0.69	0.09310	N	1	D;P;D;D	0.63046	0.959;0.93;0.984;0.992	P;P;P;P	0.57152	0.62;0.632;0.814;0.634	T	0.32161	-0.9917	10	0.56958	D	0.05	-2.1972	8.3455	0.32270	0.6125:0.315:0.0725:0.0	.	177;218;276;276	F6SKP1;F5GY20;Q14956;Q14956-2	.;.;GPNMB_HUMAN;.	C	276;311;276;159;177;218	ENSP00000258733:Y276C;ENSP00000371420:Y276C;ENSP00000445266:Y177C;ENSP00000405586:Y218C	ENSP00000258733:Y276C	Y	+	2	0	GPNMB	23266726	0.439000	0.25610	0.635000	0.29338	0.863000	0.49368	1.693000	0.37742	0.933000	0.37291	0.533000	0.62120	TAT		0.423	GPNMB-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327152.1	NM_001005340		G	23300201	A	G	23300201	3	3	668	1	0	0	0	0	1	0	0	0	6622	449	16	3	849	3	GPNMB	7	23300201	Missense_Mutation	SNP	A	TCGA-GL-A9DE-01A-11D-A36X-10		23300201	135838462	40	36593											
BAZ1B	9031	hgsc.bcm.edu	37	7	72883924	72883924	+	Missense_Mutation	SNP	T	T	C			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr7:72883924T>C	ENST00000339594.4	-	9	3127	c.2789A>G	c.(2788-2790)cAt>cGt	p.H930R	BAZ1B_ENST00000404251.1_Missense_Mutation_p.H930R	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	930					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)				AATGCTGTCATGTACCCAGCC	0.408																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)											0													219	182	194					7																	72883924		2203	4300	6503	SO:0001583	missense	9031			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.2789A>G	chr7.hg19:g.72883924T>C	ENSP00000342434:p.His930Arg		B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation	SNP	ENST00000339594.4	hg19	CCDS5549.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.497148	0.85069	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	T;T	0.58940	0.3;0.3	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.64627	0.2615	L	0.34521	1.04	0.58432	D	0.999999	D	0.76494	0.999	D	0.78314	0.991	T	0.59408	-0.7460	10	0.18276	T	0.48	-22.8212	15.2154	0.73261	0.0:0.0:0.0:1.0	.	930	Q9UIG0	BAZ1B_HUMAN	R	930	ENSP00000342434:H930R;ENSP00000385442:H930R	ENSP00000342434:H930R	H	-	2	0	BAZ1B	72521860	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	7.620000	0.83070	2.198000	0.70561	0.533000	0.62120	CAT		0.408	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408		C	72883924	T	C	72883924	3	2	668	1	0	0	0	0	1	0	0	0	1330	1464	51	3	1706	3	BAZ1B	7	72883924	Missense_Mutation	SNP	T	TCGA-GL-A9DE-01A-11D-A36X-10	49583723	72883924	86254739	41	36594											
PCLO	27445	hgsc.bcm.edu	37	7	82544242	82544242	+	Missense_Mutation	SNP	C	C	A			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr7:82544242C>A	ENST00000333891.9	-	7	13397	c.13060G>T	c.(13060-13062)Gtg>Ttg	p.V4354L	PCLO_ENST00000423517.2_Missense_Mutation_p.V4354L|PCLO_ENST00000437081.1_Missense_Mutation_p.V1074L	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						TTCTGGGCCACAATTGGTATT	0.502																																																0													106	103	104					7																	82544242		1883	4123	6006	SO:0001583	missense	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.13060G>T	chr7.hg19:g.82544242C>A	ENSP00000334319:p.Val4354Leu			Missense_Mutation	SNP	ENST00000333891.9	hg19	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.612259	0.46631	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.18657	2.2;2.2	5.61	5.61	0.85477	.	.	.	.	.	T	0.40619	0.1124	L	0.52759	1.655	0.58432	D	0.999997	D;D;D	0.61697	0.959;0.99;0.99	P;P;P	0.60173	0.631;0.87;0.87	T	0.11966	-1.0566	9	0.87932	D	0	.	19.6481	0.95790	0.0:1.0:0.0:0.0	.	4285;4354;4354	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	L	4354;4354;1074	ENSP00000334319:V4354L;ENSP00000388393:V4354L	ENSP00000334319:V4354L	V	-	1	0	PCLO	82382178	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.074000	0.71253	2.651000	0.90000	0.557000	0.71058	GTG		0.502	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		A	82544242	C	A	82544242	3	1	668	1	0	0	0	0	1	0	0	0	11585	478	17	4	2461	4	PCLO	7	82544242	Missense_Mutation	SNP	C	TCGA-GL-A9DE-01A-11D-A36X-10	9660318	82544242	76594421	42	36595											
TMEM176A	55365	hgsc.bcm.edu	37	7	150499366	150499366	+	Missense_Mutation	SNP	T	T	C			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr7:150499366T>C	ENST00000484928.1	+	3	819	c.238T>C	c.(238-240)Tac>Cac	p.Y80H	TMEM176A_ENST00000004103.3_Missense_Mutation_p.Y80H|TMEM176B_ENST00000447204.2_5'Flank|TMEM176B_ENST00000492607.1_5'Flank|TMEM176B_ENST00000326442.5_5'Flank|TMEM176B_ENST00000450753.2_5'Flank|TMEM176A_ENST00000461345.1_Missense_Mutation_p.Y21H|TMEM176B_ENST00000434545.1_5'Flank			Q96HP8	T176A_HUMAN	transmembrane protein 176A	80					negative regulation of dendritic cell differentiation (GO:2001199)	integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CATCCGCGACTACACCCTCCT	0.572																																																0													130	106	114					7																	150499366		2203	4300	6503	SO:0001583	missense	55365			AF258340	CCDS5909.1	7q36.1	2006-09-04			ENSG00000002933	ENSG00000002933			24930	protein-coding gene	gene with protein product		610334				12097419, 8889548	Standard	NM_018487		Approved	HCA112	uc003whx.1	Q96HP8	OTTHUMG00000158114	ENST00000484928.1:c.238T>C	chr7.hg19:g.150499366T>C	ENSP00000417626:p.Tyr80His		D3DX00|Q9NYC7	Missense_Mutation	SNP	ENST00000484928.1	hg19	CCDS5909.1	.	.	.	.	.	.	.	.	.	.	T	10.93	1.489966	0.26686	.	.	ENSG00000002933	ENST00000484928;ENST00000004103;ENST00000461345;ENST00000475536;ENST00000468689	T;T;T;T;T	0.02301	4.35;4.35;4.35;4.35;4.35	4.6	-4.75	0.03239	.	1.935430	0.01942	N	0.042003	T	0.02688	0.0081	L	0.50333	1.59	0.09310	N	1	P	0.44309	0.832	B	0.42386	0.386	T	0.35549	-0.9784	10	0.41790	T	0.15	-0.0945	0.4154	0.00448	0.2867:0.2834:0.147:0.2828	.	80	Q96HP8	T176A_HUMAN	H	80;80;21;32;21	ENSP00000417626:Y80H;ENSP00000004103:Y80H;ENSP00000420818:Y21H;ENSP00000417834:Y32H;ENSP00000420081:Y21H	ENSP00000004103:Y80H	Y	+	1	0	TMEM176A	150130299	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.623000	0.05546	-0.960000	0.03613	0.459000	0.35465	TAC		0.572	TMEM176A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350222.1	NM_018487		C	150499366	T	C	150499366	3	2	668	1	0	0	0	0	1	0	0	0	16097	1522	53	3	244	3	TMEM176A	7	150499366	Missense_Mutation	SNP	T	TCGA-GL-A9DE-01A-11D-A36X-10	67955124	150499366	8639297	43	36596											
ZNF596	169270	hgsc.bcm.edu	37	8	195728	195728	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr8:195728delT	ENST00000398612.1	+	6	1264	c.881delT	c.(880-882)cttfs	p.L294fs	ZNF596_ENST00000308811.4_Frame_Shift_Del_p.L294fs|ZNF596_ENST00000320552.2_Frame_Shift_Del_p.L224fs	NM_001042415.1|NM_001042416.1	NP_001035880.1|NP_001035881.1	Q8TC21	ZN596_HUMAN	zinc finger protein 596	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)			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(5)	14		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		TGCTCTGACCTTAGAAAACAT	0.388																																																0													62	58	60					8																	195728		2203	4300	6503	SO:0001589	frameshift_variant	169270			BC026190	CCDS5951.2	8p23.3	2013-01-08			ENSG00000172748	ENSG00000172748		"Zinc fingers, C2H2-type", "-"	27268	protein-coding gene	gene with protein product						12477932	Standard	NM_001287256		Approved		uc003wot.3	Q8TC21	OTTHUMG00000086931	ENST00000398612.1:c.881delT	chr8.hg19:g.195728delT	ENSP00000381613:p.Leu294fs		B2R8P4|O95015|Q8N9X0	Frame_Shift_Del	DEL	ENST00000398612.1	hg19	CCDS5951.2																																																																																				0.388	ZNF596-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195858.4	NM_173539		-	195728	T	-	195728	7	5	668	1	0	1	0	1	0	0	0	0	18031	1609	56	0	899	0	ZNF596	8	195728	Frame_Shift_Del	DEL	T	TCGA-GL-A9DE-01A-11D-A36X-10		195728	146168294	44	36597											
CCDC25	55246	hgsc.bcm.edu	37	8	27605752	27605752	+	Missense_Mutation	SNP	G	G	C			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr8:27605752G>C	ENST00000356537.4	-	7	486	c.393C>G	c.(391-393)aaC>aaG	p.N131K	RP11-16P20.3_ENST00000521510.1_RNA|CCDC25_ENST00000539095.1_Missense_Mutation_p.N63K|CCDC25_ENST00000522915.1_Missense_Mutation_p.N63K	NM_018246.2	NP_060716.2	Q86WR0	CCD25_HUMAN	coiled-coil domain containing 25	131						extracellular vesicular exosome (GO:0070062)				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0223)|KIRC - Kidney renal clear cell carcinoma(542;0.11)|Kidney(114;0.131)|Colorectal(74;0.154)		TTTCTAATCGGTTCAGGATCT	0.398																																																0													118	113	115					8																	27605752		2203	4300	6503	SO:0001583	missense	55246			AK001715	CCDS6062.2	8p21.1	2006-09-20			ENSG00000147419	ENSG00000147419			25591	protein-coding gene	gene with protein product						12477932	Standard	NM_018246		Approved	FLJ10853	uc003xgc.3	Q86WR0	OTTHUMG00000132173	ENST00000356537.4:c.393C>G	chr8.hg19:g.27605752G>C	ENSP00000348933:p.Asn131Lys		Q0P663|Q96SI2|Q9NV98	Missense_Mutation	SNP	ENST00000356537.4	hg19	CCDS6062.2	.	.	.	.	.	.	.	.	.	.	G	15.06	2.721188	0.48728	.	.	ENSG00000147419	ENST00000356537;ENST00000539095;ENST00000522915	.	.	.	5.61	2.78	0.32641	.	0.000000	0.85682	D	0.000000	T	0.47266	0.1436	M	0.68593	2.085	0.58432	D	0.999999	P	0.42456	0.78	B	0.38106	0.265	T	0.41805	-0.9488	9	0.54805	T	0.06	-24.9936	8.8923	0.35441	0.2473:0.0:0.7527:0.0	.	131	Q86WR0	CCD25_HUMAN	K	131;63;63	.	ENSP00000348933:N131K	N	-	3	2	CCDC25	27661671	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.658000	0.54482	0.285000	0.22329	0.655000	0.94253	AAC		0.398	CCDC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255224.1	NM_018246		C	27605752	G	C	27605752	3	2	668	1	0	0	0	0	1	0	0	0	2802	1252	44	4	245	4	CCDC25	8	27605752	Missense_Mutation	SNP	G	TCGA-GL-A9DE-01A-11D-A36X-10	27410024	27605752	118758270	45	36598											
ATP6V1H	51606	hgsc.bcm.edu	37	8	54628574	54628574	+	Missense_Mutation	SNP	C	C	G			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr8:54628574C>G	ENST00000359530.2	-	14	1665	c.1402G>C	c.(1402-1404)Ggc>Cgc	p.G468R	ATP6V1H_ENST00000523899.1_5'UTR|ATP6V1H_ENST00000520188.1_Missense_Mutation_p.G428R|ATP6V1H_ENST00000355221.3_Missense_Mutation_p.G450R|ATP6V1H_ENST00000396774.2_Missense_Mutation_p.G468R	NM_015941.3	NP_057025.2	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H	468					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)			AGCTGCTTGCCAAGGTATTCC	0.483																																																0													42	46	45					8																	54628574		2203	4298	6501	SO:0001583	missense	51606			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.1402G>C	chr8.hg19:g.54628574C>G	ENSP00000352522:p.Gly468Arg		B3KMR0|Q6PK44|Q9H3E3|Q9Y300	Missense_Mutation	SNP	ENST00000359530.2	hg19	CCDS6153.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.268497	0.80469	.	.	ENSG00000047249	ENST00000355221;ENST00000520188;ENST00000359530;ENST00000396774	.	.	.	5.73	5.73	0.89815	.	0.205114	0.52532	D	0.000070	T	0.77452	0.4132	M	0.62723	1.935	0.80722	D	1	D;D	0.71674	0.998;0.992	D;D	0.77557	0.99;0.972	T	0.78288	-0.2262	9	0.87932	D	0	-19.1942	17.1743	0.86837	0.0:1.0:0.0:0.0	.	450;468	Q9UI12-2;Q9UI12	.;VATH_HUMAN	R	450;428;468;468	.	ENSP00000347359:G450R	G	-	1	0	ATP6V1H	54791127	1.000000	0.71417	0.999000	0.59377	0.866000	0.49608	4.271000	0.58902	2.861000	0.98227	0.655000	0.94253	GGC		0.483	ATP6V1H-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377865.1	NM_015941		G	54628574	C	G	54628574	3	3	668	1	0	0	0	0	1	0	0	0	1189	594	21	4	53	4	ATP6V1H	8	54628574	Missense_Mutation	SNP	C	TCGA-GL-A9DE-01A-11D-A36X-10	27022822	54628574	91735448	46	36599											
SNX16	64089	hgsc.bcm.edu	37	8	82751914	82751914	+	Missense_Mutation	SNP	C	C	G			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr8:82751914C>G	ENST00000345957.4	-	2	586	c.308G>C	c.(307-309)tGg>tCg	p.W103S	SNX16_ENST00000396330.2_Missense_Mutation_p.W103S|SNX16_ENST00000353788.4_Missense_Mutation_p.W103S	NM_152836.2	NP_690049.1	P57768	SNX16_HUMAN	sorting nexin 16	103					early endosome to late endosome transport (GO:0045022)|endosome to lysosome transport (GO:0008333)|protein targeting to lysosome (GO:0006622)	early endosome (GO:0005769)|extrinsic component of endosome membrane (GO:0031313)|late endosome (GO:0005770)|lysosome (GO:0005764)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			large_intestine(1)|ovary(1)|pancreas(1)|skin(2)	5						TCTATCTTCCCAATTCACTGT	0.378																																																0													152	142	146					8																	82751914		2203	4300	6503	SO:0001583	missense	64089			AF305779	CCDS6234.1, CCDS6235.1	8q21.13	2011-05-03			ENSG00000104497	ENSG00000104497		"Sorting nexins"	14980	protein-coding gene	gene with protein product		614903				12461558, 12813048	Standard	NM_152837		Approved		uc003ycn.3	P57768	OTTHUMG00000164727	ENST00000345957.4:c.308G>C	chr8.hg19:g.82751914C>G	ENSP00000322652:p.Trp103Ser		A8K4D8|Q658L0|Q8N4U3	Missense_Mutation	SNP	ENST00000345957.4	hg19	CCDS6234.1	.	.	.	.	.	.	.	.	.	.	C	9.277	1.047069	0.19827	.	.	ENSG00000104497	ENST00000353788;ENST00000396330;ENST00000345957;ENST00000520618;ENST00000523757;ENST00000521810	T;T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.66;1.27	5.42	2.43	0.29744	Phox homologous domain (2);	0.782608	0.12355	N	0.476157	T	0.33000	0.0848	L	0.57536	1.79	0.47094	D	0.999312	B;B	0.30511	0.282;0.006	B;B	0.25884	0.064;0.005	T	0.08659	-1.0711	10	0.11182	T	0.66	-13.4645	15.1417	0.72615	0.4023:0.5977:0.0:0.0	.	103;103	Q658L0;P57768	.;SNX16_HUMAN	S	103;103;103;103;74;103	ENSP00000322631:W103S;ENSP00000379621:W103S;ENSP00000322652:W103S;ENSP00000428699:W103S;ENSP00000430038:W74S;ENSP00000428734:W103S	ENSP00000322652:W103S	W	-	2	0	SNX16	82914469	0.999000	0.42202	0.213000	0.23690	0.565000	0.35776	1.105000	0.31086	0.168000	0.19655	0.561000	0.74099	TGG		0.378	SNX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379929.1	NM_022133		G	82751914	C	G	82751914	3	3	668	1	0	0	0	0	1	0	0	0	14893	595	21	4	754	4	SNX16	8	82751914	Missense_Mutation	SNP	C	TCGA-GL-A9DE-01A-11D-A36X-10	28123340	82751914	63612108	47	36600											
ZNF251	90987	hgsc.bcm.edu	37	8	145947779	145947779	+	Silent	SNP	T	T	C			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr8:145947779T>C	ENST00000292562.7	-	5	1541	c.1266A>G	c.(1264-1266)gaA>gaG	p.E422E	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	422					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		TCCTTACGTGTTCAGTAAGAT	0.448																																																0													96	108	104					8																	145947779		2128	4254	6382	SO:0001819	synonymous_variant	90987			AK000435	CCDS47944.1	8q24.3	2013-01-08			ENSG00000198169	ENSG00000198169		"Zinc fingers, C2H2-type", "-"	13045	protein-coding gene	gene with protein product							Standard	NM_138367		Approved		uc003zdv.4	Q9BRH9	OTTHUMG00000165189	ENST00000292562.7:c.1266A>G	chr8.hg19:g.145947779T>C			Q2M219	Silent	SNP	ENST00000292562.7	hg19	CCDS47944.1																																																																																				0.448	ZNF251-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382541.1	NM_138367		C	145947779	T	C	145947779	2	2	668	1	0	0	0	0	0	0	0	1	17801	1722	60	3		3	ZNF251	8	145947779	Silent	SNP	T	TCGA-GL-A9DE-01A-11D-A36X-10	63195865	145947779	416243	48	36601											
RPL35	11224	hgsc.bcm.edu	37	9	127622502	127622502	+	Missense_Mutation	SNP	A	A	G			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr9:127622502A>G	ENST00000348462.3	-	3	230	c.182T>C	c.(181-183)aTt>aCt	p.I61T	ARPC5L_ENST00000353214.2_5'Flank|RPL35_ENST00000373570.4_Missense_Mutation_p.I61T	NM_007209.3	NP_009140.1	P42766	RL35_HUMAN	ribosomal protein L35	61					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)		AGTCTGGTTAATAACTGTGAG	0.498																																																0													89	86	87					9																	127622502		2203	4300	6503	SO:0001583	missense	11224			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.182T>C	chr9.hg19:g.127622502A>G	ENSP00000259469:p.Ile61Thr		A8K4V7|Q4VBY5|Q5JTN5|Q6IBC7|Q96QJ7|Q9BYF4	Missense_Mutation	SNP	ENST00000348462.3	hg19	CCDS6858.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.547839	0.86022	.	.	ENSG00000136942	ENST00000348462	.	.	.	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.76154	0.3948	M	0.90309	3.105	0.80722	D	1	P	0.45011	0.848	P	0.49085	0.6	T	0.81824	-0.0755	9	0.66056	D	0.02	.	14.7041	0.69176	1.0:0.0:0.0:0.0	.	61	P42766	RL35_HUMAN	T	61	.	ENSP00000259469:I61T	I	-	2	0	RPL35	126662323	1.000000	0.71417	0.999000	0.59377	0.861000	0.49209	8.770000	0.91746	2.125000	0.65367	0.459000	0.35465	ATT		0.498	RPL35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054035.1	NM_007209		G	127622502	A	G	127622502	3	3	668	1	0	0	0	0	1	0	0	0	13590	101	4	3	197	3	RPL35	9	127622502	Missense_Mutation	SNP	A	TCGA-GL-A9DE-01A-11D-A36X-10		127622502	13590929	49	36602											
LAMC3	10319	hgsc.bcm.edu	37	9	133901739	133901739	+	Silent	SNP	C	C	A			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr9:133901739C>A	ENST00000361069.4	+	2	574	c.441C>A	c.(439-441)atC>atA	p.I147I	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	147	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)		GCTTTGCCATCTACAAGCGCA	0.617																																																0													42	46	45					9																	133901739		2203	4300	6503	SO:0001819	synonymous_variant	10319			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.441C>A	chr9.hg19:g.133901739C>A			B1APX9|B1APY0|Q59H72	Silent	SNP	ENST00000361069.4	hg19	CCDS6938.1																																																																																				0.617	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		A	133901739	C	A	133901739	2	1	668	1	0	0	0	0	0	0	0	1	8618	903	32	4		4	LAMC3	9	133901739	Silent	SNP	C	TCGA-GL-A9DE-01A-11D-A36X-10	6279237	133901739	7311692	50	36603											
DIP2C	22982	hgsc.bcm.edu	37	10	327182	327182	+	Missense_Mutation	SNP	A	A	C			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr10:327182A>C	ENST00000280886.6	-	36	4463	c.4376T>G	c.(4375-4377)aTt>aGt	p.I1459S	RNA5SP298_ENST00000364991.1_RNA	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1459						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)		CGAGGTCTCAATGTCGATTGG	0.542																																																0													179	144	156					10																	327182		2203	4300	6503	SO:0001583	missense	22982			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.4376T>G	chr10.hg19:g.327182A>C	ENSP00000280886:p.Ile1459Ser		B4DPI5|Q5SS78	Missense_Mutation	SNP	ENST00000280886.6	hg19	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	A	29.4	5.004268	0.93287	.	.	ENSG00000151240	ENST00000280886;ENST00000535541	T	0.19806	2.12	5.89	5.89	0.94794	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.52273	0.1724	M	0.85945	2.785	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.59327	-0.7475	10	0.87932	D	0	-38.0194	16.3123	0.82883	1.0:0.0:0.0:0.0	.	1459	Q9Y2E4	DIP2C_HUMAN	S	1459;384	ENSP00000280886:I1459S	ENSP00000280886:I1459S	I	-	2	0	DIP2C	317182	1.000000	0.71417	0.999000	0.59377	0.916000	0.54674	9.339000	0.96797	2.254000	0.74563	0.459000	0.35465	ATT		0.542	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		C	327182	A	C	327182	3	2	668	1	0	0	0	0	1	0	0	0	4531	101	4	5	302	5	DIP2C	10	327182	Missense_Mutation	SNP	A	TCGA-GL-A9DE-01A-11D-A36X-10		327182	135207565	51	36604											
C10orf67	256815	hgsc.bcm.edu	37	10	23622020	23622020	+	Silent	SNP	A	A	G			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr10:23622020A>G	ENST00000323327.4	-	2	368	c.301T>C	c.(301-303)Ttg>Ctg	p.L101L		NM_153714.2	NP_714925.2	Q8IYJ2	CJ067_HUMAN	chromosome 10 open reading frame 67	101								p.L101M(1)		central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5						GATGAACTCAATTCTTTTACT	0.343																																																1	Substitution - Missense(1)	lung(1)											119	112	114					10																	23622020		1838	4082	5920	SO:0001819	synonymous_variant	256815			BC035732	CCDS44365.1	10p12.31	2012-05-31			ENSG00000179133	ENSG00000179133			28716	protein-coding gene	gene with protein product						12477932	Standard	NM_153714		Approved	MGC46732	uc010qcx.2	Q8IYJ2	OTTHUMG00000017818	ENST00000323327.4:c.301T>C	chr10.hg19:g.23622020A>G			A8MUP9|Q5SWD4	Silent	SNP	ENST00000323327.4	hg19	CCDS44365.1																																																																																				0.343	C10orf67-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047213.1	NM_153714		G	23622020	A	G	23622020	2	3	668	1	0	0	0	0	0	0	0	1	1614	98	4	3		3	C10orf67	10	23622020	Silent	SNP	A	TCGA-GL-A9DE-01A-11D-A36X-10	23294838	23622020	111912727	52	36605											
WAC	51322	hgsc.bcm.edu	37	10	28906628	28906628	+	Missense_Mutation	SNP	C	C	G			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr10:28906628C>G	ENST00000354911.4	+	13	1950	c.1789C>G	c.(1789-1791)Cac>Gac	p.H597D	WAC_ENST00000375664.4_Missense_Mutation_p.H552D|WAC_ENST00000375646.1_Missense_Mutation_p.H445D|WAC_ENST00000347934.4_Missense_Mutation_p.H494D	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	597					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						GGGAACTATTCACATGTCCGA	0.313																																																0													38	41	40					10																	28906628		2203	4300	6503	SO:0001583	missense	51322			AK055852	CCDS7159.1, CCDS7160.1, CCDS7161.1	10p12.1	2007-05-17	2003-03-19		ENSG00000095787	ENSG00000095787			17327	protein-coding gene	gene with protein product		615049	"WW domain-containing adaptor with coiled coil"			11827461	Standard	NR_024557		Approved	Wwp4, FLJ31290, PRO1741, BM-016, MGC10753	uc001iuf.3	Q9BTA9	OTTHUMG00000017872	ENST00000354911.4:c.1789C>G	chr10.hg19:g.28906628C>G	ENSP00000346986:p.His597Asp		A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	Missense_Mutation	SNP	ENST00000354911.4	hg19	CCDS7159.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.531433	0.64972	.	.	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	.	0.093685	0.85682	D	0.000000	T	0.35393	0.0930	L	0.34521	1.04	0.80722	D	1	P;P;P	0.42620	0.764;0.785;0.652	B;B;B	0.36418	0.224;0.182;0.112	T	0.24119	-1.0169	10	0.54805	T	0.06	-10.4861	19.5403	0.95271	0.0:1.0:0.0:0.0	.	552;494;597	Q9BTA9-2;Q9BTA9-5;Q9BTA9	.;.;WAC_HUMAN	D	552;445;494;597	ENSP00000364816:H552D;ENSP00000364797:H445D;ENSP00000311106:H494D;ENSP00000346986:H597D	ENSP00000311106:H494D	H	+	1	0	WAC	28946634	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.667000	0.68067	2.619000	0.88677	0.655000	0.94253	CAC		0.313	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000047371.1	NM_100264		G	28906628	C	G	28906628	3	3	668	1	0	0	0	0	1	0	0	0	17252	826	29	4	1839	4	WAC	10	28906628	Missense_Mutation	SNP	C	TCGA-GL-A9DE-01A-11D-A36X-10	5284608	28906628	106628119	53	36606											
CUEDC2	79004	hgsc.bcm.edu	37	10	104184908	104184908	+	Missense_Mutation	SNP	G	G	A			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr10:104184908G>A	ENST00000369937.4	-	2	183	c.38C>T	c.(37-39)gCc>gTc	p.A13V	CUEDC2_ENST00000465409.1_5'Flank	NM_024040.2	NP_076945.2	Q9H467	CUED2_HUMAN	CUE domain containing 2	13						cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.122)		Epithelial(162;9.17e-09)|all cancers(201;2.16e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CTGGACAAAGGCAAGGAGGGC	0.622																																																0													63	67	65					10																	104184908		2085	4206	6291	SO:0001583	missense	79004			BC000262	CCDS41566.1	10q24.32	2008-10-23	2004-03-04	2004-03-05	ENSG00000107874	ENSG00000107874			28352	protein-coding gene	gene with protein product		614142	"chromosome 10 open reading frame 66"	C10orf66		12477932	Standard	NM_024040		Approved	MGC2491	uc001kvn.2	Q9H467	OTTHUMG00000018958	ENST00000369937.4:c.38C>T	chr10.hg19:g.104184908G>A	ENSP00000358953:p.Ala13Val		D3DR88|Q9BWG8	Missense_Mutation	SNP	ENST00000369937.4	hg19	CCDS41566.1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.126576	0.37533	.	.	ENSG00000107874	ENST00000369937	D	0.89485	-2.52	5.3	0.711	0.18162	.	0.533792	0.20404	N	0.092995	T	0.77170	0.4091	N	0.12182	0.205	0.09310	N	0.99999	B	0.20887	0.049	B	0.16722	0.016	T	0.68569	-0.5374	10	0.52906	T	0.07	-2.1406	10.7668	0.46299	0.0:0.4683:0.4178:0.1139	.	13	Q9H467	CUED2_HUMAN	V	13	ENSP00000358953:A13V	ENSP00000358953:A13V	A	-	2	0	CUEDC2	104174898	0.958000	0.32768	0.710000	0.30468	0.970000	0.65996	1.729000	0.38115	0.568000	0.29311	0.555000	0.69702	GCC		0.622	CUEDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050060.1	NM_024040		A	104184908	G	A	104184908	3	1	668	1	0	0	0	0	1	0	0	0	4055	1203	42	2	857	2	CUEDC2	10	104184908	Missense_Mutation	SNP	G	TCGA-GL-A9DE-01A-11D-A36X-10	75278280	104184908	31349839	54	36607											
COL17A1	1308	hgsc.bcm.edu	37	10	105793812	105793812	+	Silent	SNP	T	T	A			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr10:105793812T>A	ENST00000353479.5	-	52	4337	c.4047A>T	c.(4045-4047)gcA>gcT	p.A1349A	COL17A1_ENST00000369733.3_Silent_p.A1267A	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	1349	Triple-helical region.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CTTCTGCTGCTGCCCCATAGC	0.602																																																0													83	79	80					10																	105793812		2203	4300	6503	SO:0001819	synonymous_variant	1308			M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"Collagens"	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.4047A>T	chr10.hg19:g.105793812T>A			Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Silent	SNP	ENST00000353479.5	hg19	CCDS7554.1																																																																																				0.602	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494		A	105793812	T	A	105793812	2	1	668	1	0	0	0	0	0	0	0	1	3676	1567	55	5		5	COL17A1	10	105793812	Silent	SNP	T	TCGA-GL-A9DE-01A-11D-A36X-10	1608904	105793812	29740935	55	36608											
RRM1	6240	hgsc.bcm.edu	37	11	4144483	4144483	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr11:4144483C>T	ENST00000300738.5	+	12	1393	c.1189C>T	c.(1189-1191)Cag>Tag	p.Q397*	RRM1_ENST00000534285.1_Nonsense_Mutation_p.Q175*|RRM1_ENST00000423050.2_Nonsense_Mutation_p.Q300*|RRM1_ENST00000537197.1_Nonsense_Mutation_p.Q59*|RRM1_ENST00000528470.1_3'UTR	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	397					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)	CATTGAGTCTCAGACGGAAAC	0.433																																					NSCLC(45;1345 1376 6258 22925)|Ovarian(34;894 1053 6175 12768)											0													100	99	99					11																	4144483		2201	4298	6499	SO:0001587	stop_gained	6240			X59543	CCDS7750.1	11p15.5	2009-07-10	2008-03-11		ENSG00000167325	ENSG00000167325	1.17.14.1		10451	protein-coding gene	gene with protein product		180410	"ribonucleotide reductase M1 polypeptide"			7557993	Standard	NM_001033		Approved		uc001lyw.4	P23921	OTTHUMG00000133361	ENST00000300738.5:c.1189C>T	chr11.hg19:g.4144483C>T	ENSP00000300738:p.Gln397*		Q9UNN2	Nonsense_Mutation	SNP	ENST00000300738.5	hg19	CCDS7750.1	.	.	.	.	.	.	.	.	.	.	C	38	6.853298	0.97885	.	.	ENSG00000167325	ENST00000300738;ENST00000423050;ENST00000536894;ENST00000534285;ENST00000543838;ENST00000537197	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-10.9476	18.8429	0.92192	0.0:1.0:0.0:0.0	.	.	.	.	X	397;300;310;175;175;59	.	ENSP00000300738:Q397X	Q	+	1	0	RRM1	4101059	1.000000	0.71417	1.000000	0.80357	0.747000	0.42532	7.487000	0.81328	2.706000	0.92434	0.563000	0.77884	CAG		0.433	RRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257197.1	NM_001033		T	4144483	C	T	4144483	4	4	668	1	0	0	0	0	0	1	0	0	13687	827	29	2	1235	2	RRM1	11	4144483	Nonsense_Mutation	SNP	C	TCGA-GL-A9DE-01A-11D-A36X-10		4144483	130862033	56	36609											
TRIM3	10612	hgsc.bcm.edu	37	11	6470304	6470304	+	Missense_Mutation	SNP	G	G	T			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr11:6470304G>T	ENST00000525074.1	-	12	2583	c.2189C>A	c.(2188-2190)gCt>gAt	p.A730D	TRIM3_ENST00000359518.3_Missense_Mutation_p.A730D|TRIM3_ENST00000536344.1_Missense_Mutation_p.A611D|TRIM3_ENST00000537602.1_Missense_Mutation_p.A652D|TRIM3_ENST00000345851.3_Missense_Mutation_p.A730D	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	730					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)		GCCAGCATCAGCCACCACCAC	0.562																																					Melanoma(6;5 510 1540 25169 29084)											0													88	74	79					11																	6470304		2201	4296	6497	SO:0001583	missense	10612			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.2189C>A	chr11.hg19:g.6470304G>T	ENSP00000433102:p.Ala730Asp		B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	Missense_Mutation	SNP	ENST00000525074.1	hg19	CCDS7764.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.461615	0.84425	.	.	ENSG00000110171	ENST00000525074;ENST00000345851;ENST00000336043;ENST00000537602;ENST00000359518;ENST00000536344	T;T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26;-1.26	4.8	4.8	0.61643	Six-bladed beta-propeller, TolB-like (1);	0.066417	0.64402	D	0.000011	D	0.90665	0.7072	M	0.92122	3.275	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.92909	0.6346	10	0.87932	D	0	-11.2897	16.6192	0.84925	0.0:0.0:1.0:0.0	.	611;730	F5H2Q8;O75382	.;TRIM3_HUMAN	D	730;730;719;652;730;611	ENSP00000433102:A730D;ENSP00000340797:A730D;ENSP00000441091:A652D;ENSP00000352508:A730D;ENSP00000445460:A611D	ENSP00000337094:A719D	A	-	2	0	TRIM3	6426880	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.591000	0.98241	2.492000	0.84095	0.563000	0.77884	GCT		0.562	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384224.2	NM_006458		T	6470304	G	T	6470304	3	4	668	1	0	0	0	0	1	0	0	0	16509	971	34	4	49	4	TRIM3	11	6470304	Missense_Mutation	SNP	G	TCGA-GL-A9DE-01A-11D-A36X-10	2325821	6470304	128536212	57	36610											
HPS5	11234	hgsc.bcm.edu	37	11	18333543	18333543	+	Missense_Mutation	SNP	C	C	A			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr11:18333543C>A	ENST00000349215.3	-	3	414	c.137G>T	c.(136-138)tGg>tTg	p.W46L	HPS5_ENST00000396253.3_5'UTR|HPS5_ENST00000531848.1_5'UTR|HPS5_ENST00000438420.2_5'UTR	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	46					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						CAAAGCCAACCATTTCCGAGA	0.433									Hermansky-Pudlak syndrome																																							0													112	117	115					11																	18333543		2199	4293	6492	SO:0001583	missense	11234	Familial Cancer Database	HPS, HPS1-8	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.137G>T	chr11.hg19:g.18333543C>A	ENSP00000265967:p.Trp46Leu		A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Missense_Mutation	SNP	ENST00000349215.3	hg19	CCDS7836.1	.	.	.	.	.	.	.	.	.	.	C	32	5.109237	0.94292	.	.	ENSG00000110756	ENST00000349215	T	0.59906	0.23	5.4	5.4	0.78164	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.67961	0.2949	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.68618	-0.5361	10	0.51188	T	0.08	.	19.5422	0.95278	0.0:1.0:0.0:0.0	.	62;46	Q8IZE8;Q9UPZ3	.;HPS5_HUMAN	L	46	ENSP00000265967:W46L	ENSP00000265967:W46L	W	-	2	0	HPS5	18290119	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.403000	0.79983	2.695000	0.91970	0.561000	0.74099	TGG		0.433	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390808.1	NM_181507		A	18333543	C	A	18333543	3	1	668	1	0	0	0	0	1	0	0	0	7344	595	21	4	3336	4	HPS5	11	18333543	Missense_Mutation	SNP	C	TCGA-GL-A9DE-01A-11D-A36X-10	11863239	18333543	116672973	58	36611											
SLC3A2	6520	hgsc.bcm.edu	37	11	62652107	62652108	+	Missense_Mutation	DNP	GC	GC	AT			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr11:62652107_62652108GC>AT	ENST00000377890.2	+	8	1234_1235	c.1066_1067GC>AT	c.(1066-1068)GCa>ATa	p.A356I	SLC3A2_ENST00000536981.1_5'UTR|SLC3A2_ENST00000377889.2_Missense_Mutation_p.A294I|SLC3A2_ENST00000377891.2_Missense_Mutation_p.A357I|SLC3A2_ENST00000538682.1_3'UTR|SLC3A2_ENST00000338663.7_Missense_Mutation_p.A255I|SLC3A2_ENST00000377892.1_Missense_Mutation_p.A387I|SLC3A2_ENST00000535296.1_Missense_Mutation_p.A325I	NM_002394.5	NP_002385.3	P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	356					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						TTTCTAGGATGCATCCTCATTC	0.485											OREG0021032	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0																																										SO:0001583	missense	6520				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	Exception_encountered	chr11.hg19:g.62652107_62652108delinsAT	ENSP00000367122:p.Ala356Ile	1062	Q13543	Missense_Mutation	SNP	ENST00000377890.2	hg19	CCDS8039.2																																																																																				0.485	SLC3A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000157306.1	NM_001012661		AT	62652108	GC	AT	62652107	3	1	668	1	0	0	0	0	1	0	0	0	14633	1319	46	2	1196	2	SLC3A2	11	62652107	Missense_Mutation	DNP	GC	TCGA-GL-A9DE-01A-11D-A36X-10	44318564	62652107	72354409	59	36612											
NUMA1	4926	hgsc.bcm.edu	37	11	71720100	71720100	+	Silent	SNP	A	A	G			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr11:71720100A>G	ENST00000393695.3	-	19	5302	c.4971T>C	c.(4969-4971)caT>caC	p.H1657H	NUMA1_ENST00000358965.6_Silent_p.H1643H|NUMA1_ENST00000351960.6_Silent_p.H521H	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						GCTGTAGCTCATGGCCCAGCC	0.597			T	RARA	APL																																		Dom	yes		11	11q13	4926	nuclear mitotic apparatus protein 1		L	0													53	50	51					11																	71720100		2200	4293	6493	SO:0001819	synonymous_variant	4926			Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.4971T>C	chr11.hg19:g.71720100A>G				Silent	SNP	ENST00000393695.3	hg19	CCDS31633.1	.	.	.	.	.	.	.	.	.	.	A	8.322	0.824515	0.16678	.	.	ENSG00000137497	ENST00000541584	.	.	.	5.56	-7.2	0.01495	.	.	.	.	.	T	0.47377	0.1442	.	.	.	0.45777	D	0.998668	.	.	.	.	.	.	T	0.51140	-0.8743	4	.	.	.	.	7.7891	0.29110	0.5762:0.1983:0.0:0.2256	.	.	.	.	T	488	.	.	M	-	2	0	NUMA1	71397748	0.006000	0.16342	0.638000	0.29380	0.961000	0.63080	-0.491000	0.06474	-1.624000	0.01556	0.459000	0.35465	ATG		0.597	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			G	71720100	A	G	71720100	2	3	668	1	0	0	0	0	0	0	0	1	10752	214	8	3		3	NUMA1	11	71720100	Silent	SNP	A	TCGA-GL-A9DE-01A-11D-A36X-10	9067993	71720100	63286416	60	36613											
INPPL1	3636	hgsc.bcm.edu	37	11	71942228	71942228	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr11:71942228C>T	ENST00000298229.2	+	12	1696	c.1492C>T	c.(1492-1494)Cgc>Tgc	p.R498C	INPPL1_ENST00000541756.1_Missense_Mutation_p.R256C|INPPL1_ENST00000538751.1_Missense_Mutation_p.R256C	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	498					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)	p.R498S(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TCTGGATTACCGCCCGGTGAG	0.597																																																1	Substitution - Missense(1)	lung(1)											71	81	78					11																	71942228		2199	4290	6489	SO:0001583	missense	3636			Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"Sterile alpha motif (SAM) domain containing", "SH2 domain containing"	6080	protein-coding gene	gene with protein product	"51C protein"	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.1492C>T	chr11.hg19:g.71942228C>T	ENSP00000298229:p.Arg498Cys		B2RTX5|Q13577|Q13578	Missense_Mutation	SNP	ENST00000298229.2	hg19	CCDS8213.1	.	.	.	.	.	.	.	.	.	.	c	23.4	4.416629	0.83449	.	.	ENSG00000165458	ENST00000298229;ENST00000541756;ENST00000538751	T;T;T	0.80824	-1.42;-1.42;-1.42	5.81	5.81	0.92471	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.123775	0.56097	D	0.000033	D	0.82884	0.5134	N	0.17764	0.52	0.52099	D	0.999943	D	0.76494	0.999	D	0.65573	0.936	D	0.84613	0.0679	10	0.59425	D	0.04	.	18.6606	0.91470	0.0:1.0:0.0:0.0	.	498	O15357	SHIP2_HUMAN	C	498;256;256	ENSP00000298229:R498C;ENSP00000446360:R256C;ENSP00000444619:R256C	ENSP00000298229:R498C	R	+	1	0	INPPL1	71619876	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.557000	0.67313	2.746000	0.94184	0.655000	0.94253	CGC		0.597	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396789.1	NM_001567		T	71942228	C	T	71942228	3	4	668	1	0	0	0	0	1	0	0	0	7763	652	23	1	1538	1	INPPL1	11	71942228	Missense_Mutation	SNP	C	TCGA-GL-A9DE-01A-11D-A36X-10	222128	71942228	63064288	61	36614											
RAB6A	5870	hgsc.bcm.edu	37	11	73471628	73471628	+	Missense_Mutation	SNP	A	A	T			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr11:73471628A>T	ENST00000336083.3	-	1	508	c.53T>A	c.(52-54)tTc>tAc	p.F18Y	RAB6A_ENST00000310653.6_Missense_Mutation_p.F18Y|RAB6A_ENST00000541588.1_Missense_Mutation_p.F18Y|RP11-707G14.1_ENST00000540547.1_RNA|RAB6A_ENST00000536566.1_5'Flank	NM_198896.1	NP_942599.1	P20340	RAB6A_HUMAN	RAB6A, member RAS oncogene family	18					antigen processing and presentation (GO:0019882)|early endosome to Golgi transport (GO:0034498)|GTP catabolic process (GO:0006184)|minus-end-directed organelle transport along microtubule (GO:0072385)|peptidyl-cysteine methylation (GO:0018125)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)|protein domain specific binding (GO:0019904)			large_intestine(2)|lung(2)	4						CTCCCCCAGGAACACCAGCTT	0.682																																																0													35	31	32					11																	73471628		2200	4292	6492	SO:0001583	missense	5870			AF130986	CCDS8223.1, CCDS8224.1, CCDS58155.1, CCDS58156.1	11q13.3	2008-08-08			ENSG00000175582	ENSG00000175582		"RAB, member RAS oncogene"	9786	protein-coding gene	gene with protein product		179513		RAB6			Standard	NM_001243718		Approved		uc001ouf.3	P20340	OTTHUMG00000134308	ENST00000336083.3:c.53T>A	chr11.hg19:g.73471628A>T	ENSP00000336850:p.Phe18Tyr		A8K133|B7Z772|F5H668|Q1W5D8|Q5U0A8|Q9UBE4	Missense_Mutation	SNP	ENST00000336083.3	hg19	CCDS8224.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	28.2|28.2	4.895232|4.895232	0.91962|0.91962	.|.	.|.	ENSG00000175582|ENSG00000175582	ENST00000310653;ENST00000336083;ENST00000393571;ENST00000541588;ENST00000540771;ENST00000539750;ENST00000535748;ENST00000542366|ENST00000400470	T;T;T;T|.	0.80123|.	-1.34;-1.34;-1.34;-0.49|.	4.89|4.89	4.89|4.89	0.63831|0.63831	Small GTP-binding protein domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.80701|0.80701	0.4673|0.4673	M|M	0.91663|0.91663	3.23|3.23	0.80722|0.80722	D|D	1|1	P;D;B;B|.	0.67145|.	0.786;0.996;0.184;0.153|.	P;D;B;B|.	0.76071|.	0.733;0.987;0.239;0.199|.	D|D	0.84953|0.84953	0.0872|0.0872	10|5	0.87932|.	D|.	0|.	.|.	12.527|12.527	0.56091|0.56091	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	18;18;18;18|.	Q1W5D8;F5H3K7;P20340;P20340-2|.	.;.;RAB6A_HUMAN;.|.	Y|T	18|10	ENSP00000311449:F18Y;ENSP00000336850:F18Y;ENSP00000445350:F18Y;ENSP00000438842:F18Y|.	ENSP00000311449:F18Y|.	F|S	-|-	2|1	0|0	RAB6A|RAB6A	73149276|73149276	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	6.895000|6.895000	0.75660|0.75660	2.051000|2.051000	0.60960|0.60960	0.528000|0.528000	0.53228|0.53228	TTC|TCC		0.682	RAB6A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259241.2			T	73471628	A	T	73471628	3	4	668	1	0	0	0	0	1	0	0	0	12957	246	9	5	715	5	RAB6A	11	73471628	Missense_Mutation	SNP	A	TCGA-GL-A9DE-01A-11D-A36X-10	1529400	73471628	61534888	62	36615											
C2CD3	26005	hgsc.bcm.edu	37	11	73850650	73850650	+	Splice_Site	SNP	C	C	G			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr11:73850650C>G	ENST00000334126.7	-	4	933	c.707G>C	c.(706-708)aGg>aCg	p.R236T	C2CD3_ENST00000539061.1_Splice_Site_p.R236T|C2CD3_ENST00000313663.7_Splice_Site_p.R236T			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	236					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)					TGGTAATTACCTCGGAGTGGT	0.408																																																0													294	291	292					11																	73850650		2200	4293	6493	SO:0001630	splice_region_variant	26005			BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.707+1G>C	chr11.hg19:g.73850650C>G			C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	hg19		.	.	.	.	.	.	.	.	.	.	C	13.04	2.117645	0.37339	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681;ENST00000289350;ENST00000539061	T;T	0.11385	2.78;2.81	5.02	4.11	0.48088	.	0.236148	0.42548	D	0.000694	T	0.28067	0.0692	M	0.73598	2.24	0.34355	D	0.690345	D;D	0.71674	0.995;0.998	P;D	0.68621	0.841;0.959	T	0.40117	-0.9580	9	.	.	.	.	9.0399	0.36311	0.0:0.9009:0.0:0.0991	.	236;236	Q4AC94;Q4AC94-1	C2CD3_HUMAN;.	T	236	ENSP00000334379:R236T;ENSP00000323339:R236T	.	R	-	2	0	C2CD3	73528298	1.000000	0.71417	1.000000	0.80357	0.454000	0.32378	2.454000	0.44979	1.355000	0.45865	0.644000	0.83932	AGG		0.408	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531	Missense_Mutation	G	73850650	C	G	73850650	5	3	668	1	0	0	0	0	0	0	1	0	2156	695	24	4	5296	4	C2CD3	11	73850650	Splice_Site	SNP	C	TCGA-GL-A9DE-01A-11D-A36X-10	379022	73850650	61155866	63	36616											
FUT4	2526	hgsc.bcm.edu	37	11	94277973	94277973	+	Missense_Mutation	SNP	A	A	T			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr11:94277973A>T	ENST00000358752.2	+	1	957	c.674A>T	c.(673-675)gAc>gTc	p.D225V	RP11-867G2.8_ENST00000536540.1_RNA|RP11-867G2.8_ENST00000537874.1_RNA	NM_002033.3	NP_002024.1	P22083	FUT4_HUMAN	fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific)	225					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)				CTGCTCACCGACCGCGCGTCC	0.736																																																0													6	7	6					11																	94277973		1699	3465	5164	SO:0001583	missense	2526				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.674A>T	chr11.hg19:g.94277973A>T	ENSP00000351602:p.Asp225Val		B2RMS0	Missense_Mutation	SNP	ENST00000358752.2	hg19	CCDS8301.1	.	.	.	.	.	.	.	.	.	.	a	20.8	4.052660	0.75960	.	.	ENSG00000196371	ENST00000358752	T	0.29917	1.55	4.4	3.17	0.36434	.	0.122950	0.52532	D	0.000062	T	0.57740	0.2074	M	0.88906	2.99	0.58432	D	0.999999	D	0.89917	1.0	D	0.79784	0.993	T	0.65504	-0.6152	10	0.87932	D	0	.	10.5091	0.44851	0.8375:0.1625:0.0:0.0	.	225	P22083	FUT4_HUMAN	V	225	ENSP00000351602:D225V	ENSP00000351602:D225V	D	+	2	0	FUT4	93917621	0.998000	0.40836	0.773000	0.31616	0.629000	0.37895	3.825000	0.55730	1.739000	0.51704	0.363000	0.22086	GAC		0.736	FUT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396327.2	NM_002033		T	94277973	A	T	94277973	3	4	668	1	0	0	0	0	1	0	0	0	6108	275	10	5	676	5	FUT4	11	94277973	Missense_Mutation	SNP	A	TCGA-GL-A9DE-01A-11D-A36X-10	20427323	94277973	40728543	64	36617											
MLL	4297	hgsc.bcm.edu	37	11	118390700	118390700	+	Missense_Mutation	SNP	C	C	G			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr11:118390700C>G	ENST00000389506.5	+	33	11341	c.11341C>G	c.(11341-11343)Ctg>Gtg	p.L3781V	KMT2A_ENST00000354520.4_Missense_Mutation_p.L3743V|RP11-770J1.3_ENST00000556583.1_RNA|RP11-770J1.3_ENST00000554407.1_RNA|RP11-770J1.3_ENST00000532597.1_RNA|RP11-770J1.3_ENST00000525992.2_RNA|KMT2A_ENST00000534358.1_Missense_Mutation_p.L3784V|RP11-770J1.3_ENST00000528578.1_RNA			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3781					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)										GTTTAACTTCCTGGCTTCTAA	0.418																																																0													93	90	91					11																	118390700		2200	4295	6495	SO:0001583	missense	4297			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.11341C>G	chr11.hg19:g.118390700C>G	ENSP00000374157:p.Leu3781Val		E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	hg19	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.593068	0.46214	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.84442	-1.85;-1.85;-1.81	5.9	4.02	0.46733	.	0.000000	0.64402	D	0.000002	D	0.91690	0.7373	M	0.86953	2.85	0.48975	D	0.999731	D;D	0.69078	0.997;0.997	D;D	0.78314	0.991;0.991	D	0.91550	0.5256	10	0.87932	D	0	.	8.9014	0.35497	0.0:0.7699:0.0:0.2301	.	3784;3781	E9PQG7;Q03164	.;MLL1_HUMAN	V	3784;3781;3743;2691	ENSP00000436786:L3784V;ENSP00000374157:L3781V;ENSP00000346516:L3743V	ENSP00000346516:L3743V	L	+	1	2	MLL	117895910	0.990000	0.36364	1.000000	0.80357	0.967000	0.64934	0.319000	0.19522	2.786000	0.95864	0.563000	0.77884	CTG		0.418	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		G	118390700	C	G	118390700	3	3	668	1	0	0	0	0	1	0	0	0	9622	680	24	4	11471	4	MLL	11	118390700	Missense_Mutation	SNP	C	TCGA-GL-A9DE-01A-11D-A36X-10	24112727	118390700	16615816	65	36618											
CLEC4C	170482	hgsc.bcm.edu	37	12	7890038	7890038	+	Missense_Mutation	SNP	G	G	C			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr12:7890038G>C	ENST00000542353.1	-	5	858	c.368C>G	c.(367-369)aCc>aGc	p.T123S	CLEC4C_ENST00000354629.5_Missense_Mutation_p.T92S|CLEC4C_ENST00000360345.3_Missense_Mutation_p.T123S|CLEC4C_ENST00000540085.1_Missense_Mutation_p.T92S	NM_130441.2	NP_569708.1	Q8WTT0	CLC4C_HUMAN	C-type lectin domain family 4, member C	123	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				innate immune response (GO:0045087)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		TTCTTCCCTGGTGTTGATCAC	0.408																																																0													128	126	127					12																	7890038		2203	4300	6503	SO:0001583	missense	170482			AF325460	CCDS8583.1, CCDS8584.1	12p13.2-p12.3	2008-02-05	2004-02-13	2005-02-11	ENSG00000198178	ENSG00000198178		"C-type lectin domain containing", "CD molecules"	13258	protein-coding gene	gene with protein product		606677	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 7"	CLECSF11, CLECSF7		11031109, 11536172	Standard	NM_130441		Approved	HECL, DLEC, BDCA2, CD303	uc001qth.1	Q8WTT0	OTTHUMG00000168441	ENST00000542353.1:c.368C>G	chr12.hg19:g.7890038G>C	ENSP00000440428:p.Thr123Ser		D3DUU3|Q3T1C3|Q6UXS8|Q8WXX8	Missense_Mutation	SNP	ENST00000542353.1	hg19	CCDS8583.1	.	.	.	.	.	.	.	.	.	.	G	6.168	0.399249	0.11696	.	.	ENSG00000198178	ENST00000542353;ENST00000354629;ENST00000540085;ENST00000360345;ENST00000537530;ENST00000543765	T;T;T;T;T;T	0.12569	2.67;2.67;2.67;2.67;2.67;2.67	2.62	0.51	0.16983	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.	.	.	.	T	0.11110	0.0271	N	0.13327	0.33	0.09310	N	1	P;D	0.54047	0.518;0.964	B;P	0.57152	0.103;0.814	T	0.05321	-1.0892	9	0.02654	T	1	.	8.1294	0.31018	0.0:0.4976:0.5024:0.0	.	92;123	Q8WTT0-2;Q8WTT0	.;CLC4C_HUMAN	S	123;92;92;123;45;83	ENSP00000440428:T123S;ENSP00000346648:T92S;ENSP00000445338:T92S;ENSP00000353500:T123S;ENSP00000438649:T45S;ENSP00000442457:T83S	ENSP00000346648:T92S	T	-	2	0	CLEC4C	7781305	0.403000	0.25319	0.038000	0.18304	0.029000	0.11900	0.490000	0.22403	0.123000	0.18342	0.603000	0.83216	ACC		0.408	CLEC4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399750.1	NM_203503		C	7890038	G	C	7890038	3	2	668	1	0	0	0	0	1	0	0	0	3515	1261	44	4	285	4	CLEC4C	12	7890038	Missense_Mutation	SNP	G	TCGA-GL-A9DE-01A-11D-A36X-10		7890038	125961857	66	36619											
FMNL3	91010	hgsc.bcm.edu	37	12	50047553	50047554	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr12:50047553_50047554insTT	ENST00000293590.5	-	12	1408_1409	c.1175_1176insAA	c.(1174-1176)aatfs	p.N392fs	FMNL3_ENST00000550488.1_Frame_Shift_Ins_p.N392fs|FMNL3_ENST00000335154.5_Frame_Shift_Ins_p.N392fs|FMNL3_ENST00000352151.5_Frame_Shift_Ins_p.N341fs			Q8IVF7	FMNL3_HUMAN	formin-like 3	392	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)			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						CCAGGGCTACATTCTTGGTCTC	0.53																																																0																																										SO:0001589	frameshift_variant	91010			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.1174_1175dupAA	chr12.hg19:g.50047554_50047555dupTT	ENSP00000293590:p.Asn392fs		B0JZA7|Q6ZRJ1	Frame_Shift_Ins	INS	ENST00000293590.5	hg19																																																																																					0.53	FMNL3-201	KNOWN	basic	protein_coding	protein_coding		NM_175736		TT	50047554	-	TT	50047553	7	5	668	1	0	1	1	0	0	0	0	0	5955	214	8	0	1967	0	FMNL3	12	50047553	Frame_Shift_Ins	INS	-	TCGA-GL-A9DE-01A-11D-A36X-10	42157515	50047553	83804342	67	36620											
RASSF3	283349	hgsc.bcm.edu	37	12	65078565	65078565	+	Splice_Site	SNP	A	A	C			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr12:65078565A>C	ENST00000542104.1	+	2	231		c.e2-1		RASSF3_ENST00000336061.2_Splice_Site	NM_178169.3	NP_835463.1	Q86WH2	RASF3_HUMAN	Ras association (RalGDS/AF-6) domain family member 3						signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(2;0.00133)|LUAD - Lung adenocarcinoma(6;0.0665)|LUSC - Lung squamous cell carcinoma(43;0.132)	GBM - Glioblastoma multiforme(28;0.0611)		TTTTTCTTCTAGGATGTTGAG	0.443																																																0													93	88	90					12																	65078565		2203	4300	6503	SO:0001630	splice_region_variant	283349				CCDS8969.1	12q14.2	2008-02-22	2008-02-22		ENSG00000153179	ENSG00000153179			14271	protein-coding gene	gene with protein product		607019					Standard	NM_178169		Approved		uc001ssd.3	Q86WH2	OTTHUMG00000168812	ENST00000542104.1:c.112-1A>C	chr12.hg19:g.65078565A>C			Q86WH1	Splice_Site	SNP	ENST00000542104.1	hg19	CCDS8969.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.241139	0.79912	.	.	ENSG00000153179	ENST00000542104;ENST00000336061	.	.	.	5.01	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0409	0.71791	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RASSF3	63364832	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.594000	0.82698	2.014000	0.59158	0.459000	0.35465	.		0.443	RASSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401161.1		Intron	C	65078565	A	C	65078565	5	2	668	1	0	0	0	0	0	0	1	0	13093	434	15	5	116	5	RASSF3	12	65078565	Splice_Site	SNP	A	TCGA-GL-A9DE-01A-11D-A36X-10	15031012	65078565	68773330	68	36621											
RAB21	23011	hgsc.bcm.edu	37	12	72176413	72176413	+	Silent	SNP	G	G	A			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr12:72176413G>A	ENST00000261263.3	+	6	766	c.510G>A	c.(508-510)gaG>gaA	p.E170E		NM_014999.2	NP_055814.1	Q9UL25	RAB21_HUMAN	RAB21, member RAS oncogene family	170					GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(1)|lung(4)|prostate(1)	6						AAGGAATTGAGGAACTCTTTC	0.284																																																0													105	109	107					12																	72176413		2203	4298	6501	SO:0001819	synonymous_variant	23011			AF091035	CCDS9003.1	12q21.1	2014-09-04			ENSG00000080371	ENSG00000080371		"RAB, member RAS oncogene"	18263	protein-coding gene	gene with protein product		612398				10887961, 11697911, 16754960	Standard	NM_014999		Approved	KIAA0118	uc001swt.3	Q9UL25	OTTHUMG00000169572	ENST00000261263.3:c.510G>A	chr12.hg19:g.72176413G>A			Q14466|Q569H3	Silent	SNP	ENST00000261263.3	hg19	CCDS9003.1																																																																																				0.284	RAB21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404855.1			A	72176413	G	A	72176413	2	1	668	1	0	0	0	0	0	0	0	1	12914	991	35	2		2	RAB21	12	72176413	Silent	SNP	G	TCGA-GL-A9DE-01A-11D-A36X-10	7097848	72176413	61675482	69	36622											
GALNT4	8693	hgsc.bcm.edu	37	12	89917333	89917333	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr12:89917333C>T	ENST00000529983.2	-	1	1250	c.994G>A	c.(994-996)Gaa>Aaa	p.E332K	POC1B_ENST00000313546.3_Intron|POC1B_ENST00000541909.1_Intron|POC1B_ENST00000549035.1_Intron|RP11-734K2.4_ENST00000605233.1_RNA|GALNT4_ENST00000413530.1_Missense_Mutation_p.E160K|POC1B-GALNT4_ENST00000547474.1_3'UTR|POC1B_ENST00000549504.1_Intron|POC1B_ENST00000393179.4_Intron|POC1B-GALNT4_ENST00000548729.1_Missense_Mutation_p.E329K	NM_003774.4	NP_003765.2	Q8N4A0	GALT4_HUMAN	polypeptide N-acetylgalactosaminyltransferase 4	332	Catalytic subdomain B.				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						CCCCACACTTCCATTCCTGTG	0.498																																																0													183	185	184					12																	89917333		2024	4193	6217	SO:0001583	missense	8693			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.994G>A	chr12.hg19:g.89917333C>T	ENSP00000436604:p.Glu332Lys		B2R775|B4DMX6|O00208	Missense_Mutation	SNP	ENST00000529983.2	hg19	CCDS53817.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.871294	0.91587	.	.	ENSG00000259075;ENSG00000259075;ENSG00000257594	ENST00000548729;ENST00000413530;ENST00000529983	T;D;T	0.82711	-0.23;-1.64;-0.23	5.85	5.85	0.93711	.	.	.	.	.	D	0.90133	0.6917	M	0.64260	1.97	0.80722	D	1	D;D	0.71674	0.998;0.997	D;P	0.70016	0.967;0.896	D	0.90223	0.4273	9	0.72032	D	0.01	.	19.1613	0.93533	0.0:1.0:0.0:0.0	.	329;332	F8VUJ3;Q8N4A0	.;GALT4_HUMAN	K	329;160;332	ENSP00000447852:E329K;ENSP00000389686:E160K;ENSP00000436604:E332K	ENSP00000436604:E332K	E	-	1	0	GALNT4;RP11-1109F11.4	88441464	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.760000	0.85248	2.768000	0.95171	0.655000	0.94253	GAA		0.498	GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388973.2	NM_003774		T	89917333	C	T	89917333	3	4	668	1	0	0	0	0	1	0	0	0	6217	864	30	2	746	2	GALNT4	12	89917333	Missense_Mutation	SNP	C	TCGA-GL-A9DE-01A-11D-A36X-10	17740920	89917333	43934562	70	36623											
MYBPC1	4604	hgsc.bcm.edu	37	12	102043137	102043137	+	Missense_Mutation	SNP	G	G	C			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr12:102043137G>C	ENST00000550270.1	+	13	1221	c.1221G>C	c.(1219-1221)aaG>aaC	p.K407N	MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000536007.1_Missense_Mutation_p.K388N|RP11-755O11.2_ENST00000552081.1_RNA|MYBPC1_ENST00000551300.1_Missense_Mutation_p.K308N|MYBPC1_ENST00000441232.1_Missense_Mutation_p.K407N|MYBPC1_ENST00000549145.1_Missense_Mutation_p.K420N|MYBPC1_ENST00000547405.1_Missense_Mutation_p.K381N|MYBPC1_ENST00000360610.2_Missense_Mutation_p.K407N|MYBPC1_ENST00000361685.2_Missense_Mutation_p.K432N|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000361466.2_Missense_Mutation_p.K432N|MYBPC1_ENST00000553190.1_Missense_Mutation_p.K407N|MYBPC1_ENST00000392934.3_Missense_Mutation_p.K394N|MYBPC1_ENST00000547509.1_Missense_Mutation_p.K393N|MYBPC1_ENST00000541119.1_Missense_Mutation_p.K395N|MYBPC1_ENST00000452455.2_Missense_Mutation_p.K407N|MYBPC1_ENST00000545503.2_Missense_Mutation_p.K407N			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	407	Ig-like C2-type 3.				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						GAGCAACAAAGGCTGATGCTG	0.393																																																0													186	169	175					12																	102043137		2203	4300	6503	SO:0001583	missense	4604				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.1221G>C	chr12.hg19:g.102043137G>C	ENSP00000449702:p.Lys407Asn		B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Missense_Mutation	SNP	ENST00000550270.1	hg19	CCDS9085.1	.	.	.	.	.	.	.	.	.	.	G	11.43	1.637917	0.29157	.	.	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	0.44083	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	5.98	2.17	0.27698	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.52532	D	0.000063	T	0.50769	0.1635	L	0.53249	1.67	0.43971	D	0.996657	P;D;P;D;D;P;P;D;P;P;P	0.53885	0.924;0.963;0.578;0.963;0.963;0.924;0.954;0.963;0.794;0.954;0.954	P;P;P;P;P;P;P;P;P;P;P	0.60886	0.875;0.848;0.648;0.848;0.88;0.875;0.81;0.88;0.637;0.81;0.81	T	0.39354	-0.9618	10	0.45353	T	0.12	.	8.746	0.34587	0.4881:0.0:0.5119:0.0	.	388;395;407;407;394;381;407;407;432;432;420	B7ZL02;B7ZL10;E7EWS6;B7ZL09;E7ESM5;Q17RR7;Q00872-3;Q00872;G3XAE8;Q00872-2;F8VZY0	.;.;.;.;.;.;.;MYPC1_HUMAN;.;.;.	N	381;407;407;407;394;393;432;420;407;432;407;388;395;432;308;407	ENSP00000448175:K381N;ENSP00000400908:K407N;ENSP00000388989:K407N;ENSP00000353822:K407N;ENSP00000376665:K394N;ENSP00000447362:K393N;ENSP00000354845:K432N;ENSP00000447660:K420N;ENSP00000447900:K407N;ENSP00000440034:K407N;ENSP00000446128:K388N;ENSP00000442847:K395N;ENSP00000354849:K432N;ENSP00000447116:K308N;ENSP00000449702:K407N	ENSP00000353822:K407N	K	+	3	2	MYBPC1	100567268	1.000000	0.71417	0.973000	0.42090	0.037000	0.13140	1.952000	0.40343	0.138000	0.18790	-0.469000	0.05056	AAG		0.393	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1			C	102043137	G	C	102043137	3	2	668	1	0	0	0	0	1	0	0	0	10013	991	35	4	1354	4	MYBPC1	12	102043137	Missense_Mutation	SNP	G	TCGA-GL-A9DE-01A-11D-A36X-10	12125804	102043137	31808758	71	36624											
FAM123A	219287	hgsc.bcm.edu	37	13	25744451	25744451	+	Missense_Mutation	SNP	A	A	T			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr13:25744451A>T	ENST00000515384.1	-	1	1974	c.1307T>A	c.(1306-1308)cTa>cAa	p.L436Q	AMER2-AS1_ENST00000413501.1_lincRNA|AMER2_ENST00000381853.3_Missense_Mutation_p.L317Q|AMER2_ENST00000357816.2_Missense_Mutation_p.L317Q			Q8N7J2	AMER2_HUMAN	APC membrane recruitment protein 2	436					ectoderm development (GO:0007398)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)										GAACTCCTGTAGATAGGTGTC	0.647																																																0													33	27	29					13																	25744451		2203	4300	6503	SO:0001583	missense	219287			AK055049	CCDS9312.1, CCDS53859.1	13q12.13	2013-10-11	2012-12-03	2012-12-03	ENSG00000165566	ENSG00000165566		"-"	26360	protein-coding gene	gene with protein product		614659	"family with sequence similarity 123A"	FAM123A		20843316	Standard	XM_005266279		Approved	FLJ25477	uc001uqb.3	Q8N7J2	OTTHUMG00000016602	ENST00000515384.1:c.1307T>A	chr13.hg19:g.25744451A>T	ENSP00000426528:p.Leu436Gln		Q5RL80|Q5VX56|Q8N593|Q96NN5	Missense_Mutation	SNP	ENST00000515384.1	hg19	CCDS53859.1	.	.	.	.	.	.	.	.	.	.	A	18.88	3.717353	0.68844	.	.	ENSG00000165566	ENST00000357816;ENST00000381853;ENST00000515384	T;T;T	0.19938	2.11;2.11;2.11	4.42	4.42	0.53409	.	0.139225	0.50627	D	0.000113	T	0.43389	0.1245	M	0.66939	2.045	0.47476	D	0.999435	D;D	0.76494	0.999;0.999	D;D	0.77004	0.989;0.98	T	0.42327	-0.9458	10	0.87932	D	0	-31.152	12.9998	0.58667	1.0:0.0:0.0:0.0	.	436;317	Q8N7J2;Q8N7J2-2	F123A_HUMAN;.	Q	317;317;436	ENSP00000350469:L317Q;ENSP00000371277:L317Q;ENSP00000426528:L436Q	ENSP00000350469:L317Q	L	-	2	0	FAM123A	24642451	1.000000	0.71417	0.446000	0.26920	0.834000	0.47266	7.158000	0.77470	1.849000	0.53698	0.459000	0.35465	CTA		0.647	AMER2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370229.1	NM_152704		T	25744451	A	T	25744451	3	4	668	1	0	0	0	0	1	0	0	0	5424	420	15	5	712	5	FAM123A	13	25744451	Missense_Mutation	SNP	A	TCGA-GL-A9DE-01A-11D-A36X-10		25744451	89425427	72	36625											
FRY	10129	hgsc.bcm.edu	37	13	32705963	32705963	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr13:32705963C>T	ENST00000380250.3	+	8	1367	c.871C>T	c.(871-873)Ctt>Ttt	p.L291F		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	291						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)		TGAGGCCTCTCTTCAGTTTAT	0.418																																																0													130	117	121					13																	32705963		1876	4115	5991	SO:0001583	missense	10129			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"chromosome 13 open reading frame 14"	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.871C>T	chr13.hg19:g.32705963C>T	ENSP00000369600:p.Leu291Phe		Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	hg19	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	C	6.462	0.453397	0.12283	.	.	ENSG00000073910	ENST00000380250;ENST00000267067	T	0.20463	2.07	5.8	5.8	0.92144	.	0.059737	0.64402	D	0.000001	T	0.06005	0.0156	N	0.00054	-2.38	0.80722	D	1	B	0.06786	0.001	B	0.11329	0.006	T	0.50693	-0.8798	10	0.87932	D	0	.	20.0586	0.97663	0.0:1.0:0.0:0.0	.	291	Q5TBA9	FRY_HUMAN	F	291;219	ENSP00000369600:L291F	ENSP00000267067:L219F	L	+	1	0	FRY	31603963	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.745000	0.68672	2.741000	0.93983	0.650000	0.86243	CTT		0.418	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		T	32705963	C	T	32705963	3	4	668	1	0	0	0	0	1	0	0	0	6065	913	32	2	901	2	FRY	13	32705963	Missense_Mutation	SNP	C	TCGA-GL-A9DE-01A-11D-A36X-10	6961512	32705963	82463915	73	36626											
SCFD1	23256	hgsc.bcm.edu	37	14	31142532	31142533	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr14:31142532_31142533insAA	ENST00000458591.2	+	12	1292_1293	c.1065_1066insAA	c.(1066-1068)aaafs	p.K356fs	SCFD1_ENST00000396629.2_Frame_Shift_Ins_p.K264fs|SCFD1_ENST00000544052.2_Frame_Shift_Ins_p.K289fs|SCFD1_ENST00000541123.1_Frame_Shift_Ins_p.K171fs|SCFD1_ENST00000421551.3_Frame_Shift_Ins_p.K297fs	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	356					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)		AAGATGAGGTCAAACGACTTAA	0.356																																																0																																										SO:0001589	frameshift_variant	23256			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.1066_1067dupAA	chr14.hg19:g.31142533_31142534dupAA	ENSP00000390783:p.Lys356fs		A8K2Z5|B7Z4U7|B7Z594|O60754|O94990|Q7Z529|Q9BZI3|Q9UNL3|Q9Y6A8	Frame_Shift_Ins	INS	ENST00000458591.2	hg19	CCDS9639.1																																																																																				0.356	SCFD1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276612.3	NM_182835		AA	31142533	-	AA	31142532	7	5	668	1	0	1	1	0	0	0	0	0	13895	813	29	0	1111	0	SCFD1	14	31142532	Frame_Shift_Ins	INS	-	TCGA-GL-A9DE-01A-11D-A36X-10		31142532	76207008	74	36627											
RTN1	6252	hgsc.bcm.edu	37	14	60074162	60074162	+	Missense_Mutation	SNP	A	A	G			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr14:60074162A>G	ENST00000267484.5	-	4	2149	c.1814T>C	c.(1813-1815)tTt>tCt	p.F605S	RTN1_ENST00000342503.4_Missense_Mutation_p.F37S|RTN1_ENST00000395090.1_Missense_Mutation_p.F22S|RTN1_ENST00000557422.1_5'UTR	NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	605	Reticulon. {ECO:0000255|PROSITE- ProRule:PRU00170}.				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)		GAAACTCCCAAACACGATGCC	0.597																																																0													56	52	53					14																	60074162		2203	4300	6503	SO:0001583	missense	6252			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.1814T>C	chr14.hg19:g.60074162A>G	ENSP00000267484:p.Phe605Ser		Q16800|Q16801|Q5BKZ4|Q9BQ59	Missense_Mutation	SNP	ENST00000267484.5	hg19	CCDS9740.1	.	.	.	.	.	.	.	.	.	.	A	32	5.148436	0.94603	.	.	ENSG00000139970	ENST00000432103;ENST00000267484;ENST00000395090;ENST00000342503;ENST00000433623	T;T;T	0.54071	0.59;0.59;0.59	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.78375	0.4273	M	0.89840	3.065	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;1.0;0.994	T	0.83082	-0.0137	10	0.87932	D	0	.	16.4943	0.84223	1.0:0.0:0.0:0.0	.	22;605;37	A8MT72;Q16799;Q16799-3	.;RTN1_HUMAN;.	S	185;605;22;37;531	ENSP00000267484:F605S;ENSP00000378525:F22S;ENSP00000340716:F37S	ENSP00000267484:F605S	F	-	2	0	RTN1	59143915	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	9.339000	0.96797	2.291000	0.77112	0.533000	0.62120	TTT		0.597	RTN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000072278.2			G	60074162	A	G	60074162	3	3	668	1	0	0	0	0	1	0	0	0	13731	14	1	3	540	3	RTN1	14	60074162	Missense_Mutation	SNP	A	TCGA-GL-A9DE-01A-11D-A36X-10	28931630	60074162	47275378	75	36628											
ZFP36L1	677	hgsc.bcm.edu	37	14	69256832	69256832	+	Silent	SNP	G	G	T			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr14:69256832G>T	ENST00000439696.2	-	2	736	c.435C>A	c.(433-435)cgC>cgA	p.R145R	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Silent_p.R145R	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	145					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)		GGGTCAGGCTGCGGAGCTCGT	0.632											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													80	78	79					14																	69256832		2203	4300	6503	SO:0001819	synonymous_variant	677			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.435C>A	chr14.hg19:g.69256832G>T		1113	Q13851	Silent	SNP	ENST00000439696.2	hg19	CCDS9791.1																																																																																				0.632	ZFP36L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413227.1			T	69256832	G	T	69256832	2	4	668	1	0	0	0	0	0	0	0	1	17651	1306	46	4		4	ZFP36L1	14	69256832	Silent	SNP	G	TCGA-GL-A9DE-01A-11D-A36X-10	9182670	69256832	38092708	76	36629											
NPC2	10577	hgsc.bcm.edu	37	14	74953056	74953057	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	TG	TG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr14:74953056_74953057delTG	ENST00000555619.1	-	2	402_403	c.165_166delCA	c.(163-168)tacagcfs	p.YS55fs	NPC2_ENST00000541064.1_Frame_Shift_Del_p.YS55fs|NPC2_ENST00000557510.1_Frame_Shift_Del_p.YS55fs|NPC2_ENST00000238633.2_Frame_Shift_Del_p.YS55fs|NPC2_ENST00000434013.2_Frame_Shift_Del_p.YS55fs	NM_006432.3	NP_006423.1	P61916	NPC2_HUMAN	Niemann-Pick disease, type C2	55					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|glycolipid transport (GO:0046836)|intracellular cholesterol transport (GO:0032367)|intracellular sterol transport (GO:0032366)|phospholipid transport (GO:0015914)|regulation of isoprenoid metabolic process (GO:0019747)|response to virus (GO:0009615)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	cholesterol binding (GO:0015485)|enzyme binding (GO:0019899)			breast(1)|endometrium(2)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(2)	7				BRCA - Breast invasive adenocarcinoma(234;0.00149)		ACATTGACGCTGTAAGACTGTC	0.441																																					Pancreas(93;260 1497 8575 30964 48133)											0			GRCh37	CM057462	NPC2	M																																				SO:0001589	frameshift_variant	10577			X67698	CCDS32121.1	14q24.3	2009-09-12				ENSG00000119655			14537	protein-coding gene	gene with protein product	"epididymal protein 1"	601015				8418812, 11125141	Standard	NM_006432		Approved	HE1, NP-C2, EDDM1	uc001xpy.3	P61916		ENST00000555619.1:c.165_166delCA	chr14.hg19:g.74953056_74953057delTG	ENSP00000451112:p.Tyr55fs		B4DQV7|Q15668|Q29413	Frame_Shift_Del	DEL	ENST00000555619.1	hg19	CCDS32121.1																																																																																				0.441	NPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412346.1	NM_006432		-	74953057	TG	-	74953056	7	5	668	1	0	1	0	1	0	0	0	0	10574	1580	55	0	305	0	NPC2	14	74953056	Frame_Shift_Del	DEL	TG	TCGA-GL-A9DE-01A-11D-A36X-10	5696224	74953056	32396484	77	36630											
SERPINA4	5267	hgsc.bcm.edu	37	14	95030170	95030170	+	Silent	SNP	C	C	A			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr14:95030170C>A	ENST00000557004.1	+	2	772	c.351C>A	c.(349-351)gtC>gtA	p.V117V	SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000298841.5_Silent_p.V117V|SERPINA4_ENST00000555095.1_Silent_p.V117V			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	117					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)		AGTCCGATGTCCATAGGGGCT	0.627																																																0													68	67	67					14																	95030170		2203	4300	6503	SO:0001819	synonymous_variant	5267			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.351C>A	chr14.hg19:g.95030170C>A			Q53XB5|Q86TR9|Q96BZ5	Silent	SNP	ENST00000557004.1	hg19	CCDS9927.1																																																																																				0.627	SERPINA4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410718.1	NM_006215		A	95030170	C	A	95030170	2	1	668	1	0	0	0	0	0	0	0	1	14097	842	30	4		4	SERPINA4	14	95030170	Silent	SNP	C	TCGA-GL-A9DE-01A-11D-A36X-10	20077114	95030170	12319370	78	36631											
HERC2	8924	hgsc.bcm.edu	37	15	28459417	28459417	+	Splice_Site	SNP	C	C	G			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr15:28459417C>G	ENST00000261609.7	-	41	6468	c.6360G>C	c.(6358-6360)gaG>gaC	p.E2120D		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)		TCAGCGTGGACTCTGAGGAGG	0.677																																																0													17	18	18					15																	28459417		2190	4275	6465	SO:0001630	splice_region_variant	8924			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.6359-1G>C	chr15.hg19:g.28459417C>G				Missense_Mutation	SNP	ENST00000261609.7	hg19	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	5.854	0.341694	0.11069	.	.	ENSG00000128731	ENST00000261609	T	0.39056	1.1	4.75	-4.8	0.03190	.	0.205916	0.40064	N	0.001188	T	0.25005	0.0607	L	0.44542	1.39	0.80722	D	1	B	0.17667	0.023	B	0.12156	0.007	T	0.13150	-1.0520	10	0.15066	T	0.55	.	8.6363	0.33950	0.0:0.2967:0.1043:0.599	.	2120	O95714	HERC2_HUMAN	D	2120	ENSP00000261609:E2120D	ENSP00000261609:E2120D	E	-	3	2	HERC2	26133012	0.743000	0.28239	0.501000	0.27601	0.127000	0.20565	-0.241000	0.08940	-0.791000	0.04486	0.484000	0.47621	GAG		0.677	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667	Missense_Mutation	G	28459417	C	G	28459417	5	3	668	1	0	0	0	0	0	0	1	0	7060	579	20	4	8356	4	HERC2	15	28459417	Splice_Site	SNP	C	TCGA-GL-A9DE-01A-11D-A36X-10		28459417	74071975	79	36632											
DMXL2	23312	hgsc.bcm.edu	37	15	51792075	51792075	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr15:51792075C>T	ENST00000251076.5	-	18	3633	c.3346G>A	c.(3346-3348)Gag>Aag	p.E1116K	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.E1116K|DMXL2_ENST00000449909.3_Intron	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1116						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)		AAAACCCACTCTGATCCTCCT	0.378																																																0													73	66	68					15																	51792075		2194	4293	6487	SO:0001583	missense	23312			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"WD repeat domain containing"	2938	protein-coding gene	gene with protein product	"rabconnectin 3"	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.3346G>A	chr15.hg19:g.51792075C>T	ENSP00000251076:p.Glu1116Lys		B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	hg19	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.243914	0.58995	.	.	ENSG00000104093	ENST00000251076;ENST00000543779	T;T	0.29397	1.57;1.57	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.37571	0.1008	M	0.75615	2.305	0.80722	D	1	B;P	0.35745	0.067;0.518	B;B	0.33846	0.076;0.171	T	0.23583	-1.0184	10	0.32370	T	0.25	.	19.0754	0.93159	0.0:1.0:0.0:0.0	.	1116;1116	F5GWF1;Q8TDJ6	.;DMXL2_HUMAN	K	1116	ENSP00000251076:E1116K;ENSP00000441858:E1116K	ENSP00000251076:E1116K	E	-	1	0	DMXL2	49579367	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.461000	0.80834	2.497000	0.84241	0.591000	0.81541	GAG		0.378	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		T	51792075	C	T	51792075	3	4	668	1	0	0	0	0	1	0	0	0	4597	922	32	2	5871	2	DMXL2	15	51792075	Missense_Mutation	SNP	C	TCGA-GL-A9DE-01A-11D-A36X-10	23332658	51792075	50739317	80	36633											
CELF6	60677	hgsc.bcm.edu	37	15	72581548	72581548	+	Missense_Mutation	SNP	G	G	C			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr15:72581548G>C	ENST00000569547.1	-	8	1032	c.961C>G	c.(961-963)Ctg>Gtg	p.L321V	CELF6_ENST00000543764.2_Missense_Mutation_p.L205V|CELF6_ENST00000395258.2_Missense_Mutation_p.L208V|CELF6_ENST00000567083.1_Missense_Mutation_p.L321V|CELF6_ENST00000569311.1_5'Flank|CELF6_ENST00000539635.1_Missense_Mutation_p.L182V|RP11-106M3.2_ENST00000379915.4_RNA|RP11-106M3.3_ENST00000570175.1_RNA|CELF6_ENST00000287202.5_Missense_Mutation_p.L321V			Q96J87	CELF6_HUMAN	CUGBP, Elav-like family member 6	321					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						TGGGGGGTCAGAGGGCCGAAT	0.682																																																0													14	19	18					15																	72581548		2190	4274	6464	SO:0001583	missense	60677			AF425606	CCDS10242.1, CCDS53955.1, CCDS53956.1	15q24	2013-02-12	2010-02-19	2010-02-19	ENSG00000140488	ENSG00000140488		"RNA binding motif (RRM) containing"	14059	protein-coding gene	gene with protein product		612681	"Bruno (Drosophila) -like 6, RNA binding protein", "bruno-like 6, RNA binding protein (Drosophila)"	BRUNOL6		10893231	Standard	NM_052840		Approved		uc002auh.2	Q96J87	OTTHUMG00000133444	ENST00000569547.1:c.961C>G	chr15.hg19:g.72581548G>C	ENSP00000454749:p.Leu321Val		B4DG28|B4DJB6|Q6PII4|Q6ZNJ7|Q8N607	Missense_Mutation	SNP	ENST00000569547.1	hg19	CCDS10242.1	.	.	.	.	.	.	.	.	.	.	G	10.09	1.255375	0.22965	.	.	ENSG00000140488	ENST00000287202;ENST00000437872;ENST00000543764;ENST00000379915;ENST00000395258;ENST00000539635	T;T;T;T	0.21191	2.02;2.26;2.27;3.74	5.02	2.07	0.26955	.	0.555812	0.15029	U	0.284567	T	0.16041	0.0386	L	0.39147	1.195	0.40996	D	0.984894	B;B;B;B;B	0.33103	0.096;0.096;0.357;0.397;0.096	B;B;B;B;B	0.38683	0.021;0.021;0.279;0.085;0.021	T	0.11743	-1.0575	10	0.16420	T	0.52	-6.9448	4.6841	0.12750	0.2282:0.0:0.6166:0.1551	.	321;205;208;182;321	B4DJB6;B4DG28;Q96J87-2;B3KWE6;Q96J87	.;.;.;.;CELF6_HUMAN	V	321;321;205;172;208;182	ENSP00000287202:L321V;ENSP00000439956:L205V;ENSP00000378677:L208V;ENSP00000443162:L182V	ENSP00000287202:L321V	L	-	1	2	CELF6	70368602	0.358000	0.24947	0.999000	0.59377	0.664000	0.39144	0.682000	0.25335	0.147000	0.19030	0.491000	0.48974	CTG		0.682	CELF6-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000420180.1	NM_052840		C	72581548	G	C	72581548	3	2	668	1	0	0	0	0	1	0	0	0	3222	933	33	4	504	4	CELF6	15	72581548	Missense_Mutation	SNP	G	TCGA-GL-A9DE-01A-11D-A36X-10	20789473	72581548	29949844	81	36634											
ANPEP	290	hgsc.bcm.edu	37	15	90349809	90349809	+	Silent	SNP	G	G	A			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr15:90349809G>A	ENST00000300060.6	-	2	319	c.6C>T	c.(4-6)gcC>gcT	p.A2A		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	2					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)	AGAAGCCCTTGGCCATGGTGA	0.632																																					NSCLC(30;827 977 2459 19669 26125)											0													27	27	27					15																	90349809		2199	4295	6494	SO:0001819	synonymous_variant	290			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.6C>T	chr15.hg19:g.90349809G>A			Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Silent	SNP	ENST00000300060.6	hg19	CCDS10356.1																																																																																				0.632	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1			A	90349809	G	A	90349809	2	1	668	1	0	0	0	0	0	0	0	1	710	1335	47	2		2	ANPEP	15	90349809	Silent	SNP	G	TCGA-GL-A9DE-01A-11D-A36X-10	17768261	90349809	12181583	82	36635											
CHTF18	63922	hgsc.bcm.edu	37	16	842327	842327	+	Missense_Mutation	SNP	G	G	A			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr16:842327G>A	ENST00000262315.9	+	10	1369	c.1306G>A	c.(1306-1308)Gag>Aag	p.E436K	CHTF18_ENST00000317063.6_Missense_Mutation_p.E631K|CHTF18_ENST00000455171.2_Missense_Mutation_p.E464K	NM_022092.2	NP_071375.1	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	436					cell cycle (GO:0007049)|DNA replication (GO:0006260)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				GGTCATCGATGAGATCGACGG	0.692																																																0													23	31	28					16																	842327		1939	4039	5978	SO:0001583	missense	63922			BC018184	CCDS45371.1	16p13.3	2010-04-21	2003-12-09		ENSG00000127586	ENSG00000127586		"ATPases / AAA-type"	18435	protein-coding gene	gene with protein product		613201	"chromosome 16 open reading frame 41"	C16orf41		12171929	Standard	NM_022092		Approved	CHL12, C321D2.4, Ctf18	uc002cke.4	Q8WVB6	OTTHUMG00000047838	ENST00000262315.9:c.1306G>A	chr16.hg19:g.842327G>A	ENSP00000262315:p.Glu436Lys		B7ZBA2|D3DU68|Q7Z6Y4|Q7Z6Y6|Q9BR83|Q9BRG5|Q9H7K3	Missense_Mutation	SNP	ENST00000262315.9	hg19	CCDS45371.1	.	.	.	.	.	.	.	.	.	.	g	36	5.735393	0.96865	.	.	ENSG00000127586	ENST00000317063;ENST00000455171;ENST00000262315	D;D;D	0.97870	-4.58;-4.58;-4.58	5.19	5.19	0.71726	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.99351	0.9772	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	0.98516	1.0621	10	0.49607	T	0.09	-36.8096	17.2796	0.87124	0.0:0.0:1.0:0.0	.	464;436	Q8WVB6-2;Q8WVB6	.;CTF18_HUMAN	K	631;464;436	ENSP00000313029:E631K;ENSP00000406252:E464K;ENSP00000262315:E436K	ENSP00000262315:E436K	E	+	1	0	CHTF18	782328	1.000000	0.71417	0.993000	0.49108	0.880000	0.50808	9.500000	0.97977	2.416000	0.81992	0.457000	0.33378	GAG		0.692	CHTF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109061.3	NM_022092		A	842327	G	A	842327	3	1	668	1	0	0	0	0	1	0	0	0	3416	1291	45	2	1344	2	CHTF18	16	842327	Missense_Mutation	SNP	G	TCGA-GL-A9DE-01A-11D-A36X-10		842327	89512426	83	36636											
C16orf72	29035	hgsc.bcm.edu	37	16	9210571	9210571	+	Silent	SNP	A	A	G			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr16:9210571A>G	ENST00000327827.7	+	4	1027	c.630A>G	c.(628-630)ccA>ccG	p.P210P		NM_014117.2	NP_054836.2	Q14CZ0	CP072_HUMAN	chromosome 16 open reading frame 72	210										endometrium(4)|large_intestine(2)|lung(2)	8						CGAGTACCCCAGGCTCTCCTA	0.423																																																0													192	182	185					16																	9210571		2197	4300	6497	SO:0001819	synonymous_variant	29035			AK123266	CCDS10538.1	16p13.2	2012-11-19			ENSG00000182831	ENSG00000182831			30103	protein-coding gene	gene with protein product						8889548	Standard	NM_014117		Approved	FLJ41272, PRO0149	uc002czm.3	Q14CZ0	OTTHUMG00000178147	ENST00000327827.7:c.630A>G	chr16.hg19:g.9210571A>G				Silent	SNP	ENST00000327827.7	hg19	CCDS10538.1																																																																																				0.423	C16orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440760.2	NM_014117		G	9210571	A	G	9210571	2	3	668	1	0	0	0	0	0	0	0	1	1833	175	7	3		3	C16orf72	16	9210571	Silent	SNP	A	TCGA-GL-A9DE-01A-11D-A36X-10	8368244	9210571	81144182	84	36637											
CNGB1	1258	hgsc.bcm.edu	37	16	57957180	57957180	+	Missense_Mutation	SNP	G	G	A			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr16:57957180G>A	ENST00000251102.8	-	18	1700	c.1640C>T	c.(1639-1641)aCt>aTt	p.T547I	CNGB1_ENST00000564448.1_Missense_Mutation_p.T541I	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	547					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						GTCTCACTCAGTGTCCTTCGG	0.582																																					Colon(156;1293 1853 16336 28962 38659)											0													49	51	50					16																	57957180		1885	4109	5994	SO:0001583	missense	1258			AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2151	protein-coding gene	gene with protein product	"glutamic acid-rich protein"	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.1640C>T	chr16.hg19:g.57957180G>A	ENSP00000251102:p.Thr547Ile		H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	ENST00000251102.8	hg19	CCDS42169.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.659448	0.47467	.	.	ENSG00000070729	ENST00000251102	T	0.29142	1.58	4.97	1.69	0.24217	.	0.655524	0.13615	N	0.374836	T	0.25754	0.0627	L	0.46157	1.445	0.09310	N	0.999999	P	0.50710	0.938	P	0.45195	0.473	T	0.10520	-1.0626	10	0.42905	T	0.14	.	3.9819	0.09498	0.1996:0.0:0.6032:0.1972	.	547	Q14028	CNGB1_HUMAN	I	547	ENSP00000251102:T547I	ENSP00000251102:T547I	T	-	2	0	CNGB1	56514681	0.012000	0.17670	0.616000	0.29078	0.522000	0.34438	1.527000	0.35975	0.681000	0.31386	0.655000	0.94253	ACT		0.582	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297		A	57957180	G	A	57957180	3	1	668	1	0	0	0	0	1	0	0	0	3602	1029	36	2	2179	2	CNGB1	16	57957180	Missense_Mutation	SNP	G	TCGA-GL-A9DE-01A-11D-A36X-10	48746609	57957180	32397573	85	36638											
GUCY2D	3000	hgsc.bcm.edu	37	17	7907255	7907255	+	Silent	SNP	C	C	T			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr17:7907255C>T	ENST00000254854.4	+	3	957	c.807C>T	c.(805-807)acC>acT	p.T269T		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	269					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)			skin(1)	1		Prostate(122;0.157)				TGGGCCTGACCGATGGCTCCC	0.662																																																0													94	88	90					17																	7907255		2203	4300	6503	SO:0001819	synonymous_variant	3000			L26921	CCDS11127.1	17p13.1	2013-06-06			ENSG00000132518	ENSG00000132518			4689	protein-coding gene	gene with protein product		600179	"cone rod dystrophy 6"	CORD6, LCA, GUC2D, GUC1A4		1356371, 12552567	Standard	NM_000180		Approved	retGC, RETGC-1, ROS-GC1, CYGD, LCA1	uc002gjt.2	Q02846	OTTHUMG00000108169	ENST00000254854.4:c.807C>T	chr17.hg19:g.7907255C>T			Q6LEA7	Silent	SNP	ENST00000254854.4	hg19	CCDS11127.1																																																																																				0.662	GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226973.2			T	7907255	C	T	7907255	2	4	668	1	0	0	0	0	0	0	0	1	6899	639	23	1		1	GUCY2D	17	7907255	Silent	SNP	C	TCGA-GL-A9DE-01A-11D-A36X-10		7907255	73287955	86	36639											
TMIGD1	388364	hgsc.bcm.edu	37	17	28656425	28656425	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr17:28656425G>A	ENST00000328886.4	-	3	277	c.205C>T	c.(205-207)Cga>Tga	p.R69*	TMIGD1_ENST00000538566.2_Nonsense_Mutation_p.R69*	NM_206832.1	NP_996663.1	Q6UXZ0	TMIG1_HUMAN	transmembrane and immunoglobulin domain containing 1	69	Ig-like C2-type 1.					integral component of membrane (GO:0016021)				breast(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	12						CCCTCCTCTCGGTACCAGAGC	0.443																																																0													123	111	115					17																	28656425		2203	4300	6503	SO:0001587	stop_gained	388364			AY358153	CCDS32605.1	17q11.2	2013-01-29	2006-07-05	2006-07-05		ENSG00000182271		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	32431	protein-coding gene	gene with protein product				TMIGD		12975309	Standard	NM_206832		Approved	UNQ9372	uc002hfa.1	Q6UXZ0		ENST00000328886.4:c.205C>T	chr17.hg19:g.28656425G>A	ENSP00000332404:p.Arg69*		A8K2K1|Q6ZMC6	Nonsense_Mutation	SNP	ENST00000328886.4	hg19	CCDS32605.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.947315	0.92593	.	.	ENSG00000182271	ENST00000328886;ENST00000538566	.	.	.	5.52	2.21	0.28008	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.1084	14.2699	0.66145	0.0:0.0:0.5014:0.4986	.	.	.	.	X	69	.	ENSP00000332404:R69X	R	-	1	2	TMIGD1	25680551	1.000000	0.71417	0.988000	0.46212	0.980000	0.70556	1.621000	0.36986	0.196000	0.20367	0.579000	0.79373	CGA		0.443	TMIGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447955.1	NM_206832		A	28656425	G	A	28656425	4	1	668	1	0	0	0	0	0	1	0	0	16235	1124	39	1	603	1	TMIGD1	17	28656425	Nonsense_Mutation	SNP	G	TCGA-GL-A9DE-01A-11D-A36X-10	20749170	28656425	52538785	87	36640											
NF1	4763	hgsc.bcm.edu	37	17	29483033	29483033	+	Missense_Mutation	SNP	T	T	G			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr17:29483033T>G	ENST00000358273.4	+	2	476	c.93T>G	c.(91-93)caT>caG	p.H31Q	NF1_ENST00000356175.3_Missense_Mutation_p.H31Q|NF1_ENST00000431387.4_Missense_Mutation_p.H31Q	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	31			H -> R (in NF1; dbSNP:rs199474725). {ECO:0000269|PubMed:15060124}.		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)		AGAACACACATACCAAAGTCA	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)																												yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	11	Whole gene deletion(8)|Unknown(3)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)											89	81	84					17																	29483033		2203	4300	6503	SO:0001583	missense	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.93T>G	chr17.hg19:g.29483033T>G	ENSP00000351015:p.His31Gln		O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	hg19	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	T	11.32	1.605044	0.28623	.	.	ENSG00000196712	ENST00000431387;ENST00000358273;ENST00000356175	T;T;T	0.08720	3.06;3.32;3.47	4.95	2.37	0.29283	.	0.000000	0.85682	D	0.000000	T	0.11324	0.0276	L	0.38692	1.165	0.80722	D	1	D;B;D;D	0.69078	0.96;0.179;0.997;0.96	D;B;D;D	0.78314	0.962;0.039;0.991;0.962	T	0.44877	-0.9299	10	0.02654	T	1	.	4.7551	0.13080	0.0:0.4884:0.0:0.5116	.	31;31;31;31	P21359-2;P21359;Q14931;P21359-3	.;NF1_HUMAN;.;.	Q	31	ENSP00000412921:H31Q;ENSP00000351015:H31Q;ENSP00000348498:H31Q	ENSP00000348498:H31Q	H	+	3	2	NF1	26507159	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.637000	0.61346	0.836000	0.34901	-0.376000	0.06991	CAT		0.318	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		G	29483033	T	G	29483033	3	3	668	1	0	0	0	0	1	0	0	0	10358	1403	49	5	99	5	NF1	17	29483033	Missense_Mutation	SNP	T	TCGA-GL-A9DE-01A-11D-A36X-10	826608	29483033	51712177	88	36641											
PEX12	5193	hgsc.bcm.edu	37	17	33904058	33904058	+	Splice_Site	DEL	T	T	-			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr17:33904058delT	ENST00000225873.4	-	2	1286	c.679delA	c.(679-681)agt>gt	p.S227fs	RP11-1094M14.11_ENST00000592381.1_lincRNA	NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12	227					peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	integral component of peroxisomal membrane (GO:0005779)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGGCCTTACCTCCTGGCTGGT	0.448																																																0													98	90	92					17																	33904058		2203	4300	6503	SO:0001630	splice_region_variant	5193			U91521	CCDS11296.1	17q21.1	2011-02-10			ENSG00000108733	ENSG00000108733			8854	protein-coding gene	gene with protein product		601758				9090384	Standard	NM_000286		Approved		uc002hjp.3	O00623	OTTHUMG00000132951	ENST00000225873.4:c.680+1A>-	chr17.hg19:g.33904058delT			B2R6M2	Frame_Shift_Del	DEL	ENST00000225873.4	hg19	CCDS11296.1																																																																																				0.448	PEX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256489.2	NM_000286	Frame_Shift_Del	-	33904058	T	-	33904058	8	5	668	1	0	1	0	1	0	0	1	0	11742	1565	54	0	408	0	PEX12	17	33904058	Splice_Site	DEL	T	TCGA-GL-A9DE-01A-11D-A36X-10	4421025	33904058	47291152	89	36642	275	2									
PEX12	5193	hgsc.bcm.edu	37	17	33904061	33904062	+	Missense_Mutation	DNP	TG	TG	CA			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	T|G	T|G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr17:33904061_33904062TG>CA	ENST00000225873.4	-	2	1282_1283	c.675_676CA>TG	c.(673-678)gcCAgg>gcTGgg	p.R226G	RP11-1094M14.11_ENST00000592381.1_lincRNA	NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12	226					peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	integral component of peroxisomal membrane (GO:0005779)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCTTACCTCCTGGCTGGTTGCT	0.45																																																0																																										SO:0001583	missense	5193			U91521	CCDS11296.1	17q21.1	2011-02-10			ENSG00000108733	ENSG00000108733			8854	protein-coding gene	gene with protein product		601758				9090384	Standard	NM_000286		Approved		uc002hjp.3	O00623	OTTHUMG00000132951	ENST00000225873.4:c.675_676delinsCA	chr17.hg19:g.33904061_33904062delinsCA	ENSP00000225873:p.Arg226Gly		B2R6M2	Missense_Mutation|Silent	SNP	ENST00000225873.4	hg19	CCDS11296.1																																																																																				0.45	PEX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256489.2	NM_000286		CA	33904062	TG	CA	33904061	3	2	668	1	0	0	0	0	1	0	0	0	11742	1579	55	3	411	3	PEX12	17	33904061	Missense_Mutation	DNP	TG	TCGA-GL-A9DE-01A-11D-A36X-10	3	33904061	47291149	90	36643	275	2									
KRTAP17-1	83902	hgsc.bcm.edu	37	17	39471747	39471747	+	Silent	SNP	G	G	A			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr17:39471747G>A	ENST00000334202.3	-	1	200	c.156C>T	c.(154-156)tgC>tgT	p.C52C		NM_031964.1	NP_114170.1	Q9BYP8	KR171_HUMAN	keratin associated protein 17-1	52						intermediate filament (GO:0005882)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			acgatccgcagcagctgcccc	0.687																																																0													15	20	19					17																	39471747		2181	4269	6450	SO:0001819	synonymous_variant	83902			AJ406952	CCDS11387.1	17q21.2	2013-06-20			ENSG00000186860	ENSG00000186860		"Keratin associated proteins"	18917	protein-coding gene	gene with protein product							Standard	NM_031964		Approved	KAP17.1	uc002hwj.3	Q9BYP8	OTTHUMG00000133433	ENST00000334202.3:c.156C>T	chr17.hg19:g.39471747G>A				Silent	SNP	ENST00000334202.3	hg19	CCDS11387.1																																																																																				0.687	KRTAP17-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257296.1			A	39471747	G	A	39471747	2	1	668	1	0	0	0	0	0	0	0	1	8529	963	34	2		2	KRTAP17-1	17	39471747	Silent	SNP	G	TCGA-GL-A9DE-01A-11D-A36X-10	5567686	39471747	41723463	91	36644											
KIF18B	146909	hgsc.bcm.edu	37	17	43003847	43003847	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr17:43003847C>T	ENST00000593135.1	-	15	2484	c.2387G>A	c.(2386-2388)cGc>cAc	p.R796H	KIF18B_ENST00000339151.4_Missense_Mutation_p.R799H|KIF18B_ENST00000590129.1_Missense_Mutation_p.R817H|KIF18B_ENST00000438933.2_Missense_Mutation_p.R808H|KIF18B_ENST00000587309.1_Missense_Mutation_p.R808H	NM_001265577.1	NP_001252506.1	Q86Y91	KI18B_HUMAN	kinesin family member 18B	808					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)				GATGCGGCTGCGGCCATGGGA	0.607																																																0													30	37	35					17																	43003847		2020	4182	6202	SO:0001583	missense	146909				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.2387G>A	chr17.hg19:g.43003847C>T	ENSP00000465992:p.Arg796His		A6NJI2|B7ZM49|B9EGM8|D5L6I1	Missense_Mutation	SNP	ENST00000593135.1	hg19	CCDS45709.2	.	.	.	.	.	.	.	.	.	.	C	13.25	2.179701	0.38511	.	.	ENSG00000186185	ENST00000438933;ENST00000339151;ENST00000376982	T;T	0.76709	-1.02;-1.04	5.18	-2.42	0.06542	.	.	.	.	.	T	0.69396	0.3106	M	0.65975	2.015	0.09310	N	1	B;B;B	0.28439	0.036;0.212;0.212	B;B;B	0.22880	0.007;0.042;0.042	T	0.53358	-0.8450	9	0.22109	T	0.4	.	9.4947	0.38982	0.0:0.4552:0.0:0.5448	.	808;805;817	Q86Y91;Q86Y91-3;Q86Y91-2	KI18B_HUMAN;.;.	H	808;799;808	ENSP00000412798:R808H;ENSP00000341466:R799H	ENSP00000341466:R799H	R	-	2	0	KIF18B	40359373	0.002000	0.14202	0.103000	0.21229	0.889000	0.51656	-0.800000	0.04555	-0.501000	0.06605	-0.345000	0.07892	CGC		0.607	KIF18B-001	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000448724.1	NM_001080443		T	43003847	C	T	43003847	3	4	668	1	0	0	0	0	1	0	0	0	8283	768	27	1	178	1	KIF18B	17	43003847	Missense_Mutation	SNP	C	TCGA-GL-A9DE-01A-11D-A36X-10	3532100	43003847	38191363	92	36645											
FASN	2194	hgsc.bcm.edu	37	17	80047168	80047168	+	Silent	SNP	G	G	A			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr17:80047168G>A	ENST00000306749.2	-	13	2276	c.2058C>T	c.(2056-2058)ttC>ttT	p.F686F		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	686	Acyl and malonyl transferases. {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)	TGGCCTCCATGAAGTAGGAGT	0.637																																					Colon(59;314 1043 11189 28578 32273)											0													52	49	50					17																	80047168		2200	4300	6500	SO:0001819	synonymous_variant	2194			U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"Short chain dehydrogenase/reductase superfamily / Atypical members"	3594	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 27X, member 1"	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.2058C>T	chr17.hg19:g.80047168G>A			Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Silent	SNP	ENST00000306749.2	hg19	CCDS11801.1																																																																																				0.637	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		A	80047168	G	A	80047168	2	1	668	1	0	0	0	0	0	0	0	1	5685	1281	45	2		2	FASN	17	80047168	Silent	SNP	G	TCGA-GL-A9DE-01A-11D-A36X-10	37043321	80047168	1148042	93	36646											
RALBP1	10928	hgsc.bcm.edu	37	18	9535920	9535920	+	Silent	SNP	G	G	A			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr18:9535920G>A	ENST00000019317.4	+	10	2176	c.1953G>A	c.(1951-1953)aaG>aaA	p.K651K	RALBP1_ENST00000383432.3_Silent_p.K651K			Q15311	RBP1_HUMAN	ralA binding protein 1	651					ATP catabolic process (GO:0006200)|chemotaxis (GO:0006935)|positive regulation of Cdc42 GTPase activity (GO:0043089)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|transport (GO:0006810)	cytosol (GO:0005829)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ATPase activity, coupled to movement of substances (GO:0043492)|GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14					Carbamazepine(DB00564)|Doxorubicin(DB00997)|Sorafenib(DB00398)|Vincristine(DB00541)	GGGATAGGAAGGAGACGTCCA	0.627																																																0													20	23	22					18																	9535920		2199	4291	6490	SO:0001819	synonymous_variant	10928			L42542	CCDS11845.1	18p11.22	2006-04-22			ENSG00000017797	ENSG00000017797			9841	protein-coding gene	gene with protein product		605801				7673236	Standard	NM_006788		Approved	RLIP76, RIP1, RIP	uc002koc.3	Q15311	OTTHUMG00000131596	ENST00000019317.4:c.1953G>A	chr18.hg19:g.9535920G>A			D3DUI0	Silent	SNP	ENST00000019317.4	hg19	CCDS11845.1																																																																																				0.627	RALBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254479.1	NM_006788		A	9535920	G	A	9535920	2	1	668	1	0	0	0	0	0	0	0	1	13018	991	35	2		2	RALBP1	18	9535920	Silent	SNP	G	TCGA-GL-A9DE-01A-11D-A36X-10		9535920	68541328	94	36647											
PPP4R1	9989	hgsc.bcm.edu	37	18	9570630	9570630	+	Silent	SNP	A	A	T			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr18:9570630A>T	ENST00000400556.3	-	11	1171	c.1098T>A	c.(1096-1098)acT>acA	p.T366T	PPP4R1_ENST00000400555.3_Silent_p.T349T	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	366					dephosphorylation (GO:0016311)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase 4 complex (GO:0030289)	protein phosphatase type 4 regulator activity (GO:0030362)			large_intestine(1)|skin(2)	3						GATCTGAAGGAGTATCCTCTG	0.423																																					Melanoma(188;1232 2082 5061 11948 35994)											0													89	87	88					18																	9570630		1898	4108	6006	SO:0001819	synonymous_variant	9989			AF111106	CCDS42412.1, CCDS42413.1	18p11.22	2010-06-18			ENSG00000154845	ENSG00000154845		"Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"	9320	protein-coding gene	gene with protein product		604908				10026142	Standard	NM_001042388		Approved	PP4R1	uc002koe.2	Q8TF05	OTTHUMG00000137466	ENST00000400556.3:c.1098T>A	chr18.hg19:g.9570630A>T			Q99774|Q9UNQ7	Silent	SNP	ENST00000400556.3	hg19	CCDS42412.1																																																																																				0.423	PPP4R1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268571.1	NM_005134		T	9570630	A	T	9570630	2	4	668	1	0	0	0	0	0	0	0	1	12408	291	11	5		5	PPP4R1	18	9570630	Silent	SNP	A	TCGA-GL-A9DE-01A-11D-A36X-10	34710	9570630	68506618	95	36648											
BSG	682	hgsc.bcm.edu	37	19	581506	581506	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr19:581506delC	ENST00000333511.3	+	6	1054	c.984delC	c.(982-984)ttcfs	p.F328fs	BSG_ENST00000346916.4_Frame_Shift_Del_p.F148fs|BSG_ENST00000353555.4_Frame_Shift_Del_p.F212fs|BSG_ENST00000545507.2_Frame_Shift_Del_p.F119fs	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN	basigin (Ok blood group)	328				F -> L (in Ref. 2; BAC76828). {ECO:0000305}.	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)		TCTGGCCCTTCCTGGGCATCG	0.672																																																0													28	27	27					19																	581506		2185	4293	6478	SO:0001589	frameshift_variant	682			L10240	CCDS12032.1, CCDS12033.1, CCDS12034.1, CCDS58635.1	19p13.3	2014-07-19	2014-01-02		ENSG00000172270	ENSG00000172270		"CD molecules", "Blood group antigens", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1116	protein-coding gene	gene with protein product	"Ok blood group"	109480	"basigin"	OK		8404035, 7812975	Standard	NM_198591		Approved	EMMPRIN, CD147	uc002loz.4	P35613		ENST00000333511.3:c.984delC	chr19.hg19:g.581506delC	ENSP00000333769:p.Phe328fs		A6NJW1|D3YLG5|Q7Z796|Q8IZL7	Frame_Shift_Del	DEL	ENST00000333511.3	hg19	CCDS12033.1																																																																																				0.672	BSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438630.2	NM_001728		-	581506	C	-	581506	7	5	668	1	0	1	0	1	0	0	0	0	1531	854	30	0	1042	0	BSG	19	581506	Frame_Shift_Del	DEL	C	TCGA-GL-A9DE-01A-11D-A36X-10		581506	58547477	96	36649											
DOT1L	84444	hgsc.bcm.edu	37	19	2210838	2210838	+	Silent	SNP	G	G	T	rs563972624		TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr19:2210838G>T	ENST00000398665.3	+	14	1371	c.1335G>T	c.(1333-1335)gcG>gcT	p.A445A	AC004490.1_ENST00000585593.1_RNA	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	445					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)		CTCAGACGGCGGCCTCCTCAC	0.687																																																0													21	27	25					19																	2210838		1979	4136	6115	SO:0001819	synonymous_variant	84444			AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases"	24948	protein-coding gene	gene with protein product	"histone methyltransferase DOT1L"	607375	"DOT1-like, histone H3 methyltransferase (S. cerevisiae)"			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.1335G>T	chr19.hg19:g.2210838G>T			O60379|Q96JL1	Silent	SNP	ENST00000398665.3	hg19	CCDS42460.1	.	.	.	.	.	.	.	.	.	.	G	6.432	0.447875	0.12223	.	.	ENSG00000104885	ENST00000440640	.	.	.	4.84	-9.68	0.00528	.	.	.	.	.	T	0.16128	0.0388	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.09552	-1.0669	4	.	.	.	-12.4482	3.2203	0.06713	0.4213:0.2469:0.2445:0.0872	.	.	.	.	L	232	.	.	R	+	2	0	DOT1L	2161838	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-2.301000	0.01137	-2.984000	0.00282	-1.134000	0.01955	CGG		0.687	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482		T	2210838	G	T	2210838	2	4	668	1	0	0	0	0	0	0	0	1	4711	1103	39	4		4	DOT1L	19	2210838	Silent	SNP	G	TCGA-GL-A9DE-01A-11D-A36X-10	1629332	2210838	56918145	97	36650											
MUC16	94025	hgsc.bcm.edu	37	19	9011358	9011358	+	Missense_Mutation	SNP	G	G	T			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr19:9011358G>T	ENST00000397910.4	-	36	39078	c.38875C>A	c.(38875-38877)Ccc>Acc	p.P12959T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12961	SEA 6. {ECO:0000255|PROSITE- ProRule:PRU00188}.				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						AGGGTGTAGGGGCCCAGCTCT	0.547																																																0													228	200	209					19																	9011358		1988	4172	6160	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.38875C>A	chr19.hg19:g.9011358G>T	ENSP00000381008:p.Pro12959Thr		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	hg19	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	8.336	0.827704	0.16749	.	.	ENSG00000181143	ENST00000397910;ENST00000441155	T	0.24151	1.87	2.76	-0.411	0.12370	.	.	.	.	.	T	0.30634	0.0771	L	0.51914	1.62	.	.	.	P	0.44659	0.84	P	0.51999	0.687	T	0.40059	-0.9583	8	0.87932	D	0	-4.8865	5.7224	0.17995	0.3682:0.0:0.6318:0.0	.	12959	B5ME49	.	T	12959;112	ENSP00000381008:P12959T	ENSP00000381008:P12959T	P	-	1	0	MUC16	8872358	0.000000	0.05858	0.441000	0.26858	0.242000	0.25591	-0.041000	0.12084	-0.157000	0.11059	0.305000	0.20034	CCC		0.547	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9011358	G	T	9011358	3	4	668	1	0	0	0	0	1	0	0	0	9975	1232	43	4	4844	4	MUC16	19	9011358	Missense_Mutation	SNP	G	TCGA-GL-A9DE-01A-11D-A36X-10	6800520	9011358	50117625	98	36651											
ZNF490	57474	hgsc.bcm.edu	37	19	12691823	12691824	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	GG	GG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr19:12691823_12691824delGG	ENST00000311437.6	-	5	1187_1188	c.1065_1066delCC	c.(1063-1068)acccacfs	p.H356fs	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	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)|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						ACTCCGGTGTGGGTTTTCACGT	0.431																																																0																																										SO:0001589	frameshift_variant	57474			AB033024	CCDS12272.1	19p13.2	2013-01-08			ENSG00000188033	ENSG00000188033		"Zinc fingers, C2H2-type", "-"	23705	protein-coding gene	gene with protein product							Standard	NM_020714		Approved	KIAA1198	uc002mtz.2	Q9ULM2	OTTHUMG00000156398	ENST00000311437.6:c.1065_1066delCC	chr19.hg19:g.12691823_12691824delGG	ENSP00000311521:p.His356fs			Frame_Shift_Del	DEL	ENST00000311437.6	hg19	CCDS12272.1																																																																																				0.431	ZNF490-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344073.1	NM_020714		-	12691824	GG	-	12691823	7	5	668	1	0	1	0	1	0	0	0	0	17946	1348	47	0	527	0	ZNF490	19	12691823	Frame_Shift_Del	DEL	GG	TCGA-GL-A9DE-01A-11D-A36X-10	3680465	12691823	46437160	99	36652											
HOOK2	29911	hgsc.bcm.edu	37	19	12878236	12878236	+	Missense_Mutation	SNP	G	G	A			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr19:12878236G>A	ENST00000397668.3	-	14	1419	c.1346C>T	c.(1345-1347)gCc>gTc	p.A449V	HOOK2_ENST00000589965.1_Intron|HOOK2_ENST00000264827.5_Missense_Mutation_p.A449V	NM_013312.2	NP_037444.2	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	449	Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	centrosome (GO:0005813)|FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						GATCTCTGCGGCTAAGTTATC	0.627																																																0													53	58	57					19																	12878236		1880	4105	5985	SO:0001583	missense	29911			AF044924	CCDS42507.1, CCDS42508.1	19p13.2	2013-08-21	2013-08-21						19885	protein-coding gene	gene with protein product		607824	"hook homolog 2 (Drosophila)"			9927460	Standard	NM_013312		Approved	HK2	uc002muy.2	Q96ED9		ENST00000397668.3:c.1346C>T	chr19.hg19:g.12878236G>A	ENSP00000380785:p.Ala449Val		O60562	Missense_Mutation	SNP	ENST00000397668.3	hg19	CCDS42508.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.939222	0.92526	.	.	ENSG00000095066	ENST00000397668;ENST00000264827	T;T	0.25085	1.82;1.82	5.51	5.51	0.81932	.	0.109656	0.64402	D	0.000010	T	0.52565	0.1742	M	0.80982	2.52	0.46749	D	0.99918	D;D	0.60160	0.984;0.987	P;D	0.63488	0.861;0.915	T	0.56300	-0.8002	10	0.66056	D	0.02	-3.622	16.9614	0.86273	0.0:0.0:1.0:0.0	.	449;449	Q96ED9-2;Q96ED9	.;HOOK2_HUMAN	V	449	ENSP00000380785:A449V;ENSP00000264827:A449V	ENSP00000264827:A449V	A	-	2	0	HOOK2	12739236	1.000000	0.71417	0.995000	0.50966	0.836000	0.47400	6.624000	0.74243	2.607000	0.88179	0.650000	0.86243	GCC		0.627	HOOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451008.1	NM_013312		A	12878236	G	A	12878236	3	1	668	1	0	0	0	0	1	0	0	0	7285	1203	42	2	853	2	HOOK2	19	12878236	Missense_Mutation	SNP	G	TCGA-GL-A9DE-01A-11D-A36X-10	186413	12878236	46250747	100	36653											
MYO9B	4650	hgsc.bcm.edu	37	19	17270210	17270210	+	Silent	SNP	G	G	A			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr19:17270210G>A	ENST00000594824.1	+	8	1482	c.1335G>A	c.(1333-1335)aaG>aaA	p.K445K	MYO9B_ENST00000397274.2_Silent_p.K445K|CTD-3032J10.2_ENST00000599360.1_RNA|MYO9B_ENST00000595618.1_Silent_p.K445K|CTD-3032J10.2_ENST00000597216.1_RNA			Q13459	MYO9B_HUMAN	myosin IXB	445	Myosin motor.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						AACAGGTGAAGCGAGAAATCT	0.542																																																0													77	77	77					19																	17270210		1958	4148	6106	SO:0001819	synonymous_variant	4650				CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"Myosins / Myosin superfamily : Class IX"	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.1335G>A	chr19.hg19:g.17270210G>A			O75314|Q9NUJ2|Q9UHN0	Silent	SNP	ENST00000594824.1	hg19																																																																																					0.542	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			A	17270210	G	A	17270210	2	1	668	1	0	0	0	0	0	0	0	1	10087	962	34	2		2	MYO9B	19	17270210	Silent	SNP	G	TCGA-GL-A9DE-01A-11D-A36X-10	4391974	17270210	41858773	101	36654											
ZNF574	64763	hgsc.bcm.edu	37	19	42583233	42583233	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr19:42583233C>T	ENST00000600245.1	+	2	1130	c.475C>T	c.(475-477)Cct>Tct	p.P159S	ZNF574_ENST00000222339.7_Missense_Mutation_p.P249S|CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000359044.4_Missense_Mutation_p.P159S			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	159					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(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				GGCTCCTGCCCCTGTTGTCCT	0.637																																																0													49	57	54					19																	42583233		2203	4300	6503	SO:0001583	missense	64763			AK074788	CCDS12596.1	19q13.2	2013-09-20			ENSG00000105732	ENSG00000105732		"Zinc fingers, C2H2-type"	26166	protein-coding gene	gene with protein product						12477932	Standard	NM_022752		Approved	FLJ22059	uc002osm.4	Q6ZN55	OTTHUMG00000182751	ENST00000600245.1:c.475C>T	chr19.hg19:g.42583233C>T	ENSP00000469029:p.Pro159Ser		Q6IPE0|Q6ZN10|Q7L5Z5|Q8NCE3|Q9H6N0	Missense_Mutation	SNP	ENST00000600245.1	hg19	CCDS12596.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.151603	0.57151	.	.	ENSG00000105732	ENST00000222339;ENST00000359044	T;T	0.06849	3.25;3.29	4.23	3.12	0.35913	.	0.240652	0.33813	N	0.004523	T	0.04861	0.0131	N	0.08118	0	0.26252	N	0.978701	B;P	0.40180	0.202;0.705	B;B	0.38327	0.099;0.271	T	0.38329	-0.9666	10	0.42905	T	0.14	-10.3235	13.0485	0.58942	0.0:0.8377:0.1623:0.0	.	159;248	Q6ZN55;Q6ZN55-2	ZN574_HUMAN;.	S	249;159	ENSP00000222339:P249S;ENSP00000351939:P159S	ENSP00000222339:P249S	P	+	1	0	ZNF574	47275073	0.001000	0.12720	0.701000	0.30321	0.747000	0.42532	0.256000	0.18351	2.186000	0.69663	0.591000	0.81541	CCT		0.637	ZNF574-002	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463458.1	NM_022752		T	42583233	C	T	42583233	3	4	668	1	0	0	0	0	1	0	0	0	18011	623	22	2	477	2	ZNF574	19	42583233	Missense_Mutation	SNP	C	TCGA-GL-A9DE-01A-11D-A36X-10	25313023	42583233	16545750	102	36655											
GLTSCR1	29998	hgsc.bcm.edu	37	19	48197404	48197404	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr19:48197404delC	ENST00000396720.3	+	8	2510	c.2316delC	c.(2314-2316)ggcfs	p.G772fs	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	772										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)		AGGGCCCAGGCCCCTCTTCGT	0.726																																																0													1	1	1					19																	48197404		834	1989	2823	SO:0001589	frameshift_variant	29998			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.2316delC	chr19.hg19:g.48197404delC	ENSP00000379946:p.Gly772fs		A8MW01	Frame_Shift_Del	DEL	ENST00000396720.3	hg19	CCDS46134.1																																																																																				0.726	GLTSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465846.1	NM_015711		-	48197404	C	-	48197404	7	5	668	1	0	1	0	1	0	0	0	0	6476	726	26	0	2338	0	GLTSCR1	19	48197404	Frame_Shift_Del	DEL	C	TCGA-GL-A9DE-01A-11D-A36X-10	5614171	48197404	10931579	103	36656											
PTPRH	5794	hgsc.bcm.edu	37	19	55718205	55718205	+	Silent	SNP	A	A	C			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr19:55718205A>C	ENST00000376350.3	-	3	226	c.204T>G	c.(202-204)acT>acG	p.T68T	PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Silent_p.T68T	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	68	Fibronectin type-III 1. {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)		CGCCGTCTCCAGTACACTGAA	0.572																																																0													147	122	130					19																	55718205		2203	4300	6503	SO:0001819	synonymous_variant	5794				CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.204T>G	chr19.hg19:g.55718205A>C			C9JCH2|Q15426|Q2NKN9|Q2NKP0	Silent	SNP	ENST00000376350.3	hg19	CCDS33110.1																																																																																				0.572	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			C	55718205	A	C	55718205	2	2	668	1	0	0	0	0	0	0	0	1	12809	175	7	5		5	PTPRH	19	55718205	Silent	SNP	A	TCGA-GL-A9DE-01A-11D-A36X-10	7520801	55718205	3410778	104	36657											
DUXA	503835	hgsc.bcm.edu	37	19	57665813	57665813	+	Silent	SNP	A	A	G			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr19:57665813A>G	ENST00000554048.2	-	6	581	c.582T>C	c.(580-582)agT>agC	p.S194S		NM_001012729.1	NP_001012747.1	A6NLW8	DUXA_HUMAN	double homeobox A	194					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	17		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;0.0123)		AATGAGAGTCACTAGTGAAGT	0.418																																																0													135	116	123					19																	57665813		2203	4300	6503	SO:0001819	synonymous_variant	503835				CCDS33126.1	19q13.43	2012-10-04			ENSG00000258873	ENSG00000258873		"Homeoboxes / PRD class"	32179	protein-coding gene	gene with protein product		611168					Standard	NM_001012729		Approved		uc002qoa.1	A6NLW8	OTTHUMG00000170714	ENST00000554048.2:c.582T>C	chr19.hg19:g.57665813A>G				Silent	SNP	ENST00000554048.2	hg19	CCDS33126.1																																																																																				0.418	DUXA-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410075.3	NM_001012729		G	57665813	A	G	57665813	2	3	668	1	0	0	0	0	0	0	0	1	4836	156	6	3		3	DUXA	19	57665813	Silent	SNP	A	TCGA-GL-A9DE-01A-11D-A36X-10	1947608	57665813	1463170	105	36658											
TMC2	117532	hgsc.bcm.edu	37	20	2618130	2618130	+	Missense_Mutation	SNP	T	T	C			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr20:2618130T>C	ENST00000358864.1	+	19	2411	c.2396T>C	c.(2395-2397)gTt>gCt	p.V799A		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	799					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						CTCCGTGAAGTTGAGAAGAGT	0.458																																																0													90	88	89					20																	2618130		2203	4300	6503	SO:0001583	missense	117532			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.2396T>C	chr20.hg19:g.2618130T>C	ENSP00000351732:p.Val799Ala		Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Missense_Mutation	SNP	ENST00000358864.1	hg19	CCDS13029.2	.	.	.	.	.	.	.	.	.	.	T	7.729	0.698802	0.15106	.	.	ENSG00000149488	ENST00000358864	T	0.62105	0.05	5.04	3.93	0.45458	.	0.185575	0.43416	D	0.000570	T	0.51550	0.1681	L	0.45581	1.43	0.22762	N	0.998764	B	0.02656	0.0	B	0.06405	0.002	T	0.43523	-0.9386	10	0.39692	T	0.17	-3.1255	8.6117	0.33806	0.1709:0.0:0.0:0.8291	.	799	Q8TDI7	TMC2_HUMAN	A	799	ENSP00000351732:V799A	ENSP00000351732:V799A	V	+	2	0	TMC2	2566130	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	1.282000	0.33226	1.007000	0.39238	-0.336000	0.08194	GTT		0.458	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2			C	2618130	T	C	2618130	3	2	668	1	0	0	0	0	1	0	0	0	15990	1725	60	3	2470	3	TMC2	20	2618130	Missense_Mutation	SNP	T	TCGA-GL-A9DE-01A-11D-A36X-10		2618130	60407390	106	36659											
PARD6B	84612	hgsc.bcm.edu	37	20	49354458	49354458	+	Missense_Mutation	SNP	A	A	G			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr20:49354458A>G	ENST00000371610.2	+	2	374	c.131A>G	c.(130-132)tAt>tGt	p.Y44C	PARD6B_ENST00000396039.1_Missense_Mutation_p.Y44C	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN	par-6 family cell polarity regulator beta	44	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						GAGGAGTTTTATGGATTACTA	0.333																																																0													80	79	79					20																	49354458		2203	4300	6503	SO:0001583	missense	84612			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.131A>G	chr20.hg19:g.49354458A>G	ENSP00000360672:p.Tyr44Cys		A2A2A7|Q9Y510	Missense_Mutation	SNP	ENST00000371610.2	hg19	CCDS33485.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.151060	0.78001	.	.	ENSG00000124171	ENST00000371610;ENST00000396039	T;T	0.21734	1.99;1.99	5.92	5.92	0.95590	Phox/Bem1p (2);	0.000000	0.85682	D	0.000000	T	0.36663	0.0975	M	0.64567	1.98	0.80722	D	1	B	0.33583	0.418	P	0.46510	0.519	T	0.08764	-1.0706	10	0.49607	T	0.09	-29.6811	15.5593	0.76229	1.0:0.0:0.0:0.0	.	44	Q9BYG5	PAR6B_HUMAN	C	44	ENSP00000360672:Y44C;ENSP00000379354:Y44C	ENSP00000360672:Y44C	Y	+	2	0	PARD6B	48787865	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	8.920000	0.92779	2.277000	0.76020	0.528000	0.53228	TAT		0.333	PARD6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079697.2	NM_032521		G	49354458	A	G	49354458	3	3	668	1	0	0	0	0	1	0	0	0	11448	449	16	3	137	3	PARD6B	20	49354458	Missense_Mutation	SNP	A	TCGA-GL-A9DE-01A-11D-A36X-10	46736328	49354458	13671062	107	36660											
ATP9A	10079	hgsc.bcm.edu	37	20	50217801	50217801	+	Silent	SNP	C	C	T			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr20:50217801C>T	ENST00000338821.5	-	28	3357	c.3093G>A	c.(3091-3093)aaG>aaA	p.K1031K	ATP9A_ENST00000402822.1_Silent_p.K910K|ATP9A_ENST00000311637.5_Silent_p.K895K	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	1031					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						TTCGCAGGTACTTGAGGACAT	0.567																																																0													89	64	73					20																	50217801		2203	4300	6503	SO:0001819	synonymous_variant	10079			AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"ATPases / P-type"	13540	protein-coding gene	gene with protein product		609126	"ATPase, Class II, type 9A"			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.3093G>A	chr20.hg19:g.50217801C>T			E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Silent	SNP	ENST00000338821.5	hg19	CCDS33489.1																																																																																				0.567	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		T	50217801	C	T	50217801	2	4	668	1	0	0	0	0	0	0	0	1	1198	564	20	2		2	ATP9A	20	50217801	Silent	SNP	C	TCGA-GL-A9DE-01A-11D-A36X-10	863343	50217801	12807719	108	36661											
SLC7A4	6545	hgsc.bcm.edu	37	22	21385638	21385638	+	Missense_Mutation	SNP	G	G	C			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr22:21385638G>C	ENST00000382932.2	-	2	531	c.464C>G	c.(463-465)aCc>aGc	p.T155S	AC002472.11_ENST00000450652.1_RNA|MIR649_ENST00000384843.1_RNA|SLC7A4_ENST00000403586.1_Missense_Mutation_p.T155S	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	155				THVGSWQVPLLGHYPDFLAAGIILLASAFVSCGARVSS -> DPRGFLAGAPPGPLPGLPGCWHHPPWPLPLSPVEPACPP (in Ref. 1; CAA04263). {ECO:0000305}.	basic amino acid transport (GO:0015802)|cellular amino acid metabolic process (GO:0006520)|transport (GO:0006810)	integral component of membrane (GO:0016021)	basic amino acid transmembrane transporter activity (GO:0015174)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	ACCCACGTGGGTCTCAGTGAA	0.622																																																0													34	36	35					22																	21385638		2203	4300	6503	SO:0001583	missense	6545			AJ000730	CCDS33608.1	22q11.21	2013-07-19	2013-07-19		ENSG00000099960	ENSG00000099960		"Solute carriers"	11062	protein-coding gene	gene with protein product		603752	"solute carrier family 7 (cationic amino acid transporter, y+ system), member 4", "solute carrier family 7 (orphan transporter), member 4"			9598310, 11665818	Standard	NM_004173		Approved	HCAT3, CAT-4, VH	uc002zud.3	O43246	OTTHUMG00000150896	ENST00000382932.2:c.464C>G	chr22.hg19:g.21385638G>C	ENSP00000372390:p.Thr155Ser		Q0P5U2|Q3KNQ6|Q4VC45|Q6IBY8|Q96H88	Missense_Mutation	SNP	ENST00000382932.2	hg19	CCDS33608.1	.	.	.	.	.	.	.	.	.	.	G	4.566	0.105214	0.08731	.	.	ENSG00000099960	ENST00000403586;ENST00000382932	D;D	0.90004	-2.6;-2.6	5.28	4.26	0.50523	Amino acid permease domain (1);	0.304735	0.34025	N	0.004331	T	0.78710	0.4326	N	0.20766	0.605	0.26027	N	0.981795	B	0.02656	0.0	B	0.06405	0.002	T	0.60337	-0.7283	10	0.12103	T	0.63	.	11.768	0.51941	0.0862:0.0:0.9138:0.0	.	155	O43246	CTR4_HUMAN	S	155	ENSP00000384278:T155S;ENSP00000372390:T155S	ENSP00000372390:T155S	T	-	2	0	SLC7A4	19715638	1.000000	0.71417	0.071000	0.20095	0.025000	0.11179	2.808000	0.47963	1.351000	0.45789	0.561000	0.74099	ACC		0.622	SLC7A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320467.1	NM_004173		C	21385638	G	C	21385638	3	2	668	1	0	0	0	0	1	0	0	0	14705	1261	44	4	1459	4	SLC7A4	22	21385638	Missense_Mutation	SNP	G	TCGA-GL-A9DE-01A-11D-A36X-10		21385638	29918928	109	36662											
MN1	4330	hgsc.bcm.edu	37	22	28194900	28194900	+	Silent	SNP	T	T	C	rs202212250|rs530519178	byFrequency	TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr22:28194900T>C	ENST00000302326.4	-	1	2586	c.1632A>G	c.(1630-1632)caA>caG	p.Q544Q		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						gctgctgctgttgctgttgct	0.647			T	ETV6	"AML, meningioma"								C|||	5	0.000998403	0.0023	0.0	5008	,	,		12597	0.0		0.0	False		,,,				2504	0.002						Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"L, O"	0																																										SO:0001819	synonymous_variant	4330			X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"probable tumor suppressor protein MN1"	156100	"meningioma chromosome region"	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.1632A>G	chr22.hg19:g.28194900T>C			A9Z1V9	Silent	SNP	ENST00000302326.4	hg19	CCDS42998.1																																																																																				0.647	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		C	28194900	T	C	28194900	2	2	668	1	0	0	0	0	0	0	0	1	9675	1722	60	3		3	MN1	22	28194900	Silent	SNP	T	TCGA-GL-A9DE-01A-11D-A36X-10	6809262	28194900	23109666	110	36663											
PLXNB2	23654	hgsc.bcm.edu	37	22	50722099	50722099	+	Silent	SNP	G	G	A			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chr22:50722099G>A	ENST00000449103.1	-	15	2642	c.2502C>T	c.(2500-2502)gaC>gaT	p.D834D	PLXNB2_ENST00000359337.4_Silent_p.D834D|PLXNB2_ENST00000496720.1_5'UTR			O15031	PLXB2_HUMAN	plexin B2	834	IPT/TIG 1.				brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		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)		TCCTCTGGATGTCCCCTGCTT	0.647																																																0													31	37	35					22																	50722099		1973	4137	6110	SO:0001819	synonymous_variant	23654				CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"Plexins"	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.2502C>T	chr22.hg19:g.50722099G>A			A6QRH0|Q7KZU3|Q9BSU7	Silent	SNP	ENST00000449103.1	hg19	CCDS43035.1																																																																																				0.647	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		A	50722099	G	A	50722099	2	1	668	1	0	0	0	0	0	0	0	1	12126	1368	48	2		2	PLXNB2	22	50722099	Silent	SNP	G	TCGA-GL-A9DE-01A-11D-A36X-10	22527199	50722099	582467	111	36664											
ZBED1	9189	hgsc.bcm.edu	37	X	2407032	2407032	+	Missense_Mutation	SNP	A	A	C			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chrX:2407032A>C	ENST00000381223.4	-	2	1932	c.1729T>G	c.(1729-1731)Tcc>Gcc	p.S577A	DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Missense_Mutation_p.S577A|ZBED1_ENST00000515319.1_5'Flank|ZBED1_ENST00000381218.3_Missense_Mutation_p.S577A	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	577					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)				ACCTTCTGGGACTTGAAGTTG	0.607																																																0													120	106	111					X																	2407032		2203	4296	6499	SO:0001583	missense	9189			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.1729T>G	chrX.hg19:g.2407032A>C	ENSP00000370621:p.Ser577Ala		Q96BY4	Missense_Mutation	SNP	ENST00000381223.4	hg19	CCDS14118.1	.	.	.	.	.	.	.	.	.	.	A	9.895	1.205342	0.22205	.	.	ENSG00000214717	ENST00000381223;ENST00000381222;ENST00000381218	T;T;T	0.22539	1.95;1.95;1.95	2.97	1.67	0.24075	HAT dimerisation (1);Ribonuclease H-like (1);	0.126167	0.34750	U	0.003715	T	0.11110	0.0271	.	.	.	0.09310	N	1	B	0.18013	0.025	B	0.20577	0.03	T	0.36335	-0.9752	9	0.15066	T	0.55	.	8.2493	0.31708	0.7999:0.2001:0.0:0.0	.	577	O96006	ZBED1_HUMAN	A	577	ENSP00000370621:S577A;ENSP00000370620:S577A;ENSP00000370616:S577A	ENSP00000370616:S577A	S	-	1	0	ZBED1	2417032	1.000000	0.71417	0.572000	0.28498	0.482000	0.33219	4.352000	0.59404	0.015000	0.14971	0.373000	0.22412	TCC		0.607	ZBED1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144310.3	NM_004729		C	2407032	A	C	2407032	3	2	668	1	0	0	0	0	1	0	0	0	17522	275	10	5	359	5	ZBED1	23	2407032	Missense_Mutation	SNP	A	TCGA-GL-A9DE-01A-11D-A36X-10		2407032	152863528	112	36665											
GPR34	2857	hgsc.bcm.edu	37	X	41555847	41555847	+	Missense_Mutation	SNP	T	T	A			TCGA-GL-A9DE-01A-11D-A36X-10	TCGA-GL-A9DE-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be0270c7-7799-4045-9a8c-3878512a73ef	bfa8f265-7a77-40f4-89f4-2102820fcdee	g.chrX:41555847T>A	ENST00000378142.4	+	3	1245	c.961T>A	c.(961-963)Tgc>Agc	p.C321S	CASK_ENST00000442742.2_Intron|GPR34_ENST00000378138.5_Missense_Mutation_p.C321S|CASK_ENST00000378154.1_Intron|CASK_ENST00000378163.1_Intron|CASK_ENST00000421587.2_Intron|CASK_ENST00000378166.4_Intron|CASK_ENST00000361962.4_Intron|CASK_ENST00000318588.9_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	321					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(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						TTTCAATAGTTGCTTAGATCC	0.368																																																0													124	102	110					X																	41555847		2202	4300	6502	SO:0001583	missense	2857			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.961T>A	chrX.hg19:g.41555847T>A	ENSP00000367384:p.Cys321Ser		O95853	Missense_Mutation	SNP	ENST00000378142.4	hg19	CCDS14258.1	.	.	.	.	.	.	.	.	.	.	T	18.02	3.529560	0.64860	.	.	ENSG00000171659	ENST00000378142;ENST00000378138;ENST00000535368	T;T	0.61510	0.1;0.1	5.73	5.73	0.89815	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.80465	0.4628	M	0.89840	3.065	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84706	0.0731	10	0.72032	D	0.01	-13.9692	14.9871	0.71356	0.0:0.0:0.0:1.0	.	321	Q9UPC5	GPR34_HUMAN	S	321;321;274	ENSP00000367384:C321S;ENSP00000367378:C321S	ENSP00000367378:C321S	C	+	1	0	GPR34	41440791	1.000000	0.71417	0.961000	0.40146	0.777000	0.43975	7.694000	0.84235	1.922000	0.55676	0.481000	0.45027	TGC		0.368	GPR34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056264.1	NM_005300		A	41555847	T	A	41555847	3	1	668	1	0	0	0	0	1	0	0	0	6691	1812	63	5	963	5	GPR34	23	41555847	Missense_Mutation	SNP	T	TCGA-GL-A9DE-01A-11D-A36X-10	39148815	41555847	113714713	113	36666											
DDI2	84301	hgsc.bcm.edu	37	1	15956850	15956850	+	Missense_Mutation	SNP	C	C	A			TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chr1:15956850C>A	ENST00000480945.1	+	3	470	c.299C>A	c.(298-300)gCt>gAt	p.A100D		NM_032341.4	NP_115717.3	Q5TDH0	DDI2_HUMAN	DNA-damage inducible 1 homolog 2 (S. cerevisiae)	100							aspartic-type endopeptidase activity (GO:0004190)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		AGTAGTATAGCTGTGCCTGGC	0.473																																																0													86	88	87					1																	15956850		2203	4300	6503	SO:0001583	missense	84301				CCDS30607.1	1p36.13	2010-05-04	2010-05-04		ENSG00000197312	ENSG00000197312			24578	protein-coding gene	gene with protein product			"DDI1, DNA-damage inducible 1, homolog 2 (S. cerevisiae)"				Standard	NM_032341		Approved	MGC14844	uc001awx.2	Q5TDH0	OTTHUMG00000002381	ENST00000480945.1:c.299C>A	chr1.hg19:g.15956850C>A	ENSP00000417748:p.Ala100Asp		A8KAE1|Q7RTZ0|Q9BRT1	Missense_Mutation	SNP	ENST00000480945.1	hg19	CCDS30607.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.182624	0.78677	.	.	ENSG00000197312	ENST00000480945	T	0.23552	1.9	5.9	5.9	0.94986	.	0.130770	0.51477	U	0.000091	T	0.34774	0.0909	M	0.71036	2.16	0.80722	D	1	P	0.44946	0.846	B	0.40101	0.319	T	0.19321	-1.0309	10	0.56958	D	0.05	-28.9484	19.873	0.96856	0.0:1.0:0.0:0.0	.	100	Q5TDH0	DDI2_HUMAN	D	100	ENSP00000417748:A100D	ENSP00000417748:A100D	A	+	2	0	DDI2	15829437	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.971000	0.76105	2.802000	0.96397	0.650000	0.86243	GCT		0.473	DDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006826.1	NM_032341		A	15956850	C	A	15956850	3	1	669	1	0	0	0	0	1	0	0	0	4331	797	28	4	309	4	DDI2	1	15956850	Missense_Mutation	SNP	C	TCGA-HE-7128-01A-11D-1961-08		15956850	233293771	1	36667											
ST3GAL3	6487	hgsc.bcm.edu	37	1	44290408	44290408	+	Intron	SNP	C	C	A			TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chr1:44290408C>A	ENST00000361392.4	+	4	386				ST3GAL3_ENST00000531993.1_Intron|ST3GAL3_ENST00000461375.1_Intron|ST3GAL3_ENST00000372372.2_Missense_Mutation_p.P56Q|ST3GAL3_ENST00000528371.1_Intron|ST3GAL3_ENST00000545417.1_Intron|ST3GAL3_ENST00000335430.6_Intron|ST3GAL3_ENST00000372375.2_Missense_Mutation_p.P72Q|ST3GAL3_ENST00000372367.1_Intron|ST3GAL3_ENST00000372368.2_Missense_Mutation_p.P72Q|ST3GAL3_ENST00000372377.4_Intron|ST3GAL3_ENST00000372362.2_Intron|ST3GAL3_ENST00000262915.3_Missense_Mutation_p.P87Q|ST3GAL3_ENST00000332628.6_Intron|ST3GAL3_ENST00000372366.1_Intron|ST3GAL3_ENST00000372374.2_Intron|ST3GAL3_ENST00000351035.3_Missense_Mutation_p.P56Q|ST3GAL3_ENST00000533933.1_Intron|ST3GAL3_ENST00000361746.4_Missense_Mutation_p.P87Q|ST3GAL3_ENST00000361400.4_Intron|ST3GAL3_ENST00000531451.1_Intron|ST3GAL3_ENST00000330208.2_Intron|ST3GAL3_ENST00000372369.1_Intron|ST3GAL3_ENST00000347631.2_Intron|ST3GAL3_ENST00000353126.3_Intron|ST3GAL3_ENST00000531816.1_Intron|ST3GAL3_ENST00000361812.4_Intron|ST3GAL3_ENST00000372365.1_Intron	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						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)				TGCAGCTCACCGAGGACTCTC	0.453																																																0													98	103	102					1																	44290408		2203	4300	6503	SO:0001627	intron_variant	6487			L23768	CCDS492.1, CCDS493.1, CCDS494.1, CCDS495.1, CCDS496.1, CCDS497.1, CCDS498.1, CCDS499.1, CCDS500.1, CCDS53310.1, CCDS57988.1, CCDS57989.1, CCDS57990.1, CCDS57991.1, CCDS57992.1, CCDS57993.1, CCDS57994.1	1p34.1	2014-01-31	2005-02-07	2005-02-07	ENSG00000126091	ENSG00000126091	2.4.99.6	"Sialyltransferases"	10866	protein-coding gene	gene with protein product	"ST3Gal III"	606494	"sialyltransferase 6 (N-acetyllacosaminide alpha 2,3-sialyltransferase)", "mental retardation, non-syndromic, autosomal recessive, 12"	SIAT6, MRT12		8333853, 21907012	Standard	NM_174963		Approved		uc001cjz.4	Q11203	OTTHUMG00000007561	ENST00000361392.4:c.209+9803C>A	chr1.hg19:g.44290408C>A			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	hg19	CCDS492.1	.	.	.	.	.	.	.	.	.	.	C	4.533	0.098911	0.08681	.	.	ENSG00000126091	ENST00000262915;ENST00000372375;ENST00000351035;ENST00000361746;ENST00000372368;ENST00000372372	T;T;T;T;T;T	0.56611	0.55;0.54;0.45;0.55;0.54;0.45	2.47	1.54	0.23209	.	.	.	.	.	T	0.44603	0.1301	.	.	.	0.09310	N	1	B;B;B	0.24768	0.111;0.111;0.111	B;B;B	0.36504	0.054;0.054;0.226	T	0.44757	-0.9307	8	0.34782	T	0.22	.	7.2175	0.25967	0.0:0.7224:0.2776:0.0	.	56;72;87	Q11203-19;Q11203-13;Q11203-4	.;.;.	Q	87;72;56;87;72;56	ENSP00000262915:P87Q;ENSP00000361450:P72Q;ENSP00000316999:P56Q;ENSP00000354657:P87Q;ENSP00000361443:P72Q;ENSP00000361447:P56Q	ENSP00000262915:P87Q	P	+	2	0	ST3GAL3	44062995	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-0.185000	0.09684	0.583000	0.29574	-0.226000	0.12346	CCG		0.453	ST3GAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019964.1	NM_174963		A	44290408	C	A	44290408	1	1	669	0	1	0	0	0	0	0	0	0	15221	652	23	4		4	ST3GAL3	1	44290408	Intron	SNP	C	TCGA-HE-7128-01A-11D-1961-08	28333558	44290408	204960213	2	36668											
FAM151A	338094	hgsc.bcm.edu	37	1	55077353	55077353	+	Missense_Mutation	SNP	C	C	A			TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chr1:55077353C>A	ENST00000302250.2	-	6	1026	c.866G>T	c.(865-867)cGg>cTg	p.R289L	FAM151A_ENST00000371304.2_Missense_Mutation_p.R289L|ACOT11_ENST00000371316.3_Intron	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	289						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						AGTGTTATCCCGGACGTAGAG	0.577																																																0													151	130	137					1																	55077353		2203	4300	6503	SO:0001583	missense	338094			AK091901	CCDS594.1	1p32.3	2008-02-05	2007-12-18	2007-12-18	ENSG00000162391	ENSG00000162391			25032	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 179"	C1orf179		17273976	Standard	NM_176782		Approved	MGC27169	uc001cxn.3	Q8WW52	OTTHUMG00000009888	ENST00000302250.2:c.866G>T	chr1.hg19:g.55077353C>A	ENSP00000306888:p.Arg289Leu		Q5VUG5|Q6DKH5|Q6UWV0|Q8NAX9|Q96KY5	Missense_Mutation	SNP	ENST00000302250.2	hg19	CCDS594.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.835893	0.91117	.	.	ENSG00000162391	ENST00000302250;ENST00000371304;ENST00000294370	T;T	0.14022	2.54;2.54	4.59	4.59	0.56863	.	0.078649	0.48767	D	0.000169	T	0.33411	0.0862	M	0.83953	2.67	0.80722	D	1	P	0.52577	0.954	P	0.53035	0.716	T	0.21008	-1.0258	10	0.54805	T	0.06	-29.9435	16.6818	0.85294	0.0:1.0:0.0:0.0	.	289	Q8WW52	F151A_HUMAN	L	289	ENSP00000306888:R289L;ENSP00000360353:R289L	ENSP00000294370:R289L	R	-	2	0	FAM151A	54849941	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	6.179000	0.71974	2.520000	0.84964	0.655000	0.94253	CGG		0.577	FAM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027342.1	NM_176782		A	55077353	C	A	55077353	3	1	669	1	0	0	0	0	1	0	0	0	5460	652	23	4	903	4	FAM151A	1	55077353	Missense_Mutation	SNP	C	TCGA-HE-7128-01A-11D-1961-08	10786945	55077353	194173268	3	36669											
CCDC88A	55704	hgsc.bcm.edu	37	2	55523606	55523606	+	Missense_Mutation	SNP	T	T	C			TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chr2:55523606T>C	ENST00000436346.1	-	30	5720	c.4879A>G	c.(4879-4881)Agc>Ggc	p.S1627G	CCDC88A_ENST00000413716.2_Missense_Mutation_p.S1626G|CCDC88A_ENST00000336838.6_Missense_Mutation_p.S1626G|CCDC88A_ENST00000422883.2_Missense_Mutation_p.S128G|CCDC88A_ENST00000263630.8_Missense_Mutation_p.S1599G	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1627					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						TGAAGCAGGCTAAATTCTCCA	0.453																																																0													119	105	110					2																	55523606		2203	4300	6503	SO:0001583	missense	55704			AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"Galpha-interacting vesicle-associated protein", "Akt-phosphorylation enhancer", "girdin", "girders of actin filaments"	609736	"KIAA1212"	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.4879A>G	chr2.hg19:g.55523606T>C	ENSP00000410608:p.Ser1627Gly		A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	ENST00000436346.1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.68|14.68	2.606920|2.606920	0.46527|0.46527	.|.	.|.	ENSG00000115355|ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000422883;ENST00000412148;ENST00000413716;ENST00000426576|ENST00000456975	T;T;T;T;T;T|.	0.52295|.	2.4;2.38;2.62;0.67;2.4;1.32|.	5.39|5.39	5.39|5.39	0.77823|0.77823	.|.	0.000000|.	0.56097|.	U|.	0.000024|.	T|.	0.69024|.	0.3065|.	L|L	0.54323|0.54323	1.7|1.7	0.58432|0.58432	D|D	0.999998|0.999998	B;D;D;D;B;D;D|.	0.63046|.	0.005;0.99;0.982;0.982;0.05;0.992;0.99|.	B;D;D;D;B;D;D|.	0.74674|.	0.012;0.979;0.952;0.961;0.019;0.984;0.979|.	T|.	0.67436|.	-0.5671|.	10|.	0.27082|.	T|.	0.32|.	-9.3716|-9.3716	15.4218|15.4218	0.75018|0.75018	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1626;1599;1544;128;1627;1626;1598|.	B7ZM78;Q3V6T2-2;D6W5D1;B3KW94;Q3V6T2;Q3V6T2-3;Q3V6T2-4|.	.;.;.;.;GRDN_HUMAN;.;.|.	G|W	1626;1599;1627;128;644;1626;802|579	ENSP00000338728:S1626G;ENSP00000263630:S1599G;ENSP00000410608:S1627G;ENSP00000390012:S644G;ENSP00000404431:S1626G;ENSP00000405080:S802G|.	ENSP00000263630:S1599G|.	S|X	-|-	1|2	0|0	CCDC88A|CCDC88A	55377110|55377110	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.274000|7.274000	0.78538|0.78538	2.051000|2.051000	0.60960|0.60960	0.383000|0.383000	0.25322|0.25322	AGC|TAG		0.453	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571		C	55523606	T	C	55523606	3	2	669	1	0	0	0	0	1	0	0	0	2865	1522	53	3	748	3	CCDC88A	2	55523606	Missense_Mutation	SNP	T	TCGA-HE-7128-01A-11D-1961-08		55523606	187675767	4	36670											
FAM161A	84140	hgsc.bcm.edu	37	2	62067675	62067675	+	Missense_Mutation	SNP	A	A	T			TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chr2:62067675A>T	ENST00000405894.3	-	3	565	c.464T>A	c.(463-465)aTg>aAg	p.M155K	FAM161A_ENST00000404929.1_Missense_Mutation_p.M155K	NM_032180.2	NP_115556.2	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	155					cilium assembly (GO:0042384)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AAATGATGTCATTAATGAGAC	0.363																																																0													104	91	95					2																	62067675		1846	4096	5942	SO:0001583	missense	84140				CCDS42687.2, CCDS56120.1	2p15	2011-03-15			ENSG00000170264	ENSG00000170264			25808	protein-coding gene	gene with protein product		613596	"retinitis pigmentosa 28 (autosomal recessive)"	RP28		10507729, 20705278, 20705279	Standard	NM_032180		Approved	FLJ13305	uc002sbm.4	Q3B820	OTTHUMG00000152165	ENST00000405894.3:c.464T>A	chr2.hg19:g.62067675A>T	ENSP00000385893:p.Met155Lys		B4DJV7|Q9H8R2	Missense_Mutation	SNP	ENST00000405894.3	hg19	CCDS42687.2	.	.	.	.	.	.	.	.	.	.	A	12.65	2.002006	0.35320	.	.	ENSG00000170264	ENST00000404929;ENST00000405894	T;T	0.20598	2.87;2.06	5.3	-0.661	0.11417	.	1.199220	0.05573	N	0.571416	T	0.17323	0.0416	L	0.51422	1.61	0.09310	N	1	B;B	0.28233	0.204;0.018	B;B	0.21708	0.036;0.013	T	0.29119	-1.0022	9	.	.	.	-6.764	4.6748	0.12706	0.4925:0.0:0.1664:0.3411	.	155;155	Q3B820;Q3B820-3	F161A_HUMAN;.	K	155	ENSP00000385158:M155K;ENSP00000385893:M155K	.	M	-	2	0	FAM161A	61921179	0.001000	0.12720	0.000000	0.03702	0.743000	0.42351	0.901000	0.28445	-0.003000	0.14444	-0.490000	0.04691	ATG		0.363	FAM161A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325537.2	NM_032180		T	62067675	A	T	62067675	3	4	669	1	0	0	0	0	1	0	0	0	5474	217	8	5	1534	5	FAM161A	2	62067675	Missense_Mutation	SNP	A	TCGA-HE-7128-01A-11D-1961-08	6544069	62067675	181131698	5	36671											
MAT2A	4144	hgsc.bcm.edu	37	2	85770091	85770091	+	Missense_Mutation	SNP	A	A	T			TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chr2:85770091A>T	ENST00000306434.3	+	8	1142	c.1019A>T	c.(1018-1020)aAg>aTg	p.K340M	MAT2A_ENST00000409017.1_Missense_Mutation_p.K277M	NM_005911.5	NP_005902.1	P31153	METK2_HUMAN	methionine adenosyltransferase II, alpha	340					cellular nitrogen compound metabolic process (GO:0034641)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|methionine adenosyltransferase complex (GO:0048269)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methionine adenosyltransferase activity (GO:0004478)			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	ACCTCTCAGAAGAGTGAGAGA	0.398																																																0													153	156	155					2																	85770091		2203	4300	6503	SO:0001583	missense	4144				CCDS1977.1	2p11.2	2008-06-03			ENSG00000168906	ENSG00000168906			6904	protein-coding gene	gene with protein product		601468				1426236, 9703951	Standard	NM_005911		Approved	SAMS2, MATA2, MATII	uc002spr.3	P31153	OTTHUMG00000130174	ENST00000306434.3:c.1019A>T	chr2.hg19:g.85770091A>T	ENSP00000303147:p.Lys340Met		A8K511|B4DN45|D6W5L1|Q53SP5	Missense_Mutation	SNP	ENST00000306434.3	hg19	CCDS1977.1	.	.	.	.	.	.	.	.	.	.	A	13.85	2.358960	0.41801	.	.	ENSG00000168906	ENST00000306434;ENST00000424323;ENST00000409017	D;D	0.97688	-4.49;-4.49	5.8	5.8	0.92144	S-adenosylmethionine synthetase, C-terminal (1);S-adenosylmethionine synthetase superfamily (1);	0.000000	0.85682	D	0.000000	D	0.95230	0.8453	L	0.39692	1.235	0.58432	D	0.999993	B;B	0.16802	0.019;0.019	B;B	0.18263	0.021;0.021	D	0.92657	0.6138	10	0.31617	T	0.26	-9.6104	14.0949	0.65013	1.0:0.0:0.0:0.0	.	340;340	B4DEX8;P31153	.;METK2_HUMAN	M	340;121;277	ENSP00000303147:K340M;ENSP00000386353:K277M	ENSP00000303147:K340M	K	+	2	0	MAT2A	85623602	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.899000	0.69846	2.209000	0.71365	0.460000	0.39030	AAG		0.398	MAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252491.2	NM_005911		T	85770091	A	T	85770091	3	4	669	1	0	0	0	0	1	0	0	0	9332	72	3	5	1049	5	MAT2A	2	85770091	Missense_Mutation	SNP	A	TCGA-HE-7128-01A-11D-1961-08	23702416	85770091	157429282	6	36672											
PHOSPHO2	493911	hgsc.bcm.edu	37	2	170557930	170557930	+	Missense_Mutation	SNP	A	A	G			TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chr2:170557930A>G	ENST00000359744.3	+	4	837	c.449A>G	c.(448-450)aAt>aGt	p.N150S	KLHL23_ENST00000272797.4_Intron|KLHL23_ENST00000602521.1_Intron	NM_001008489.3|NM_001199285.1|NM_001199286.1|NM_001199288.1	NP_001008489.1|NP_001186214.1|NP_001186215.1|NP_001186217.1	Q8TCD6	PHOP2_HUMAN	phosphatase, orphan 2	150							metal ion binding (GO:0046872)|pyridoxal phosphatase activity (GO:0033883)			breast(1)|large_intestine(1)|lung(6)|skin(2)	10						TGCCCAAAGAATCTTTGCAAA	0.308																																																0													64	65	64					2																	170557930		2203	4299	6502	SO:0001583	missense	493911			BC022324	CCDS33319.1	2q31.1	2008-02-05			ENSG00000144362	ENSG00000144362			28316	protein-coding gene	gene with protein product						16054448	Standard	NM_001199285		Approved	MGC22679	uc021vsh.1	Q8TCD6	OTTHUMG00000153981	ENST00000359744.3:c.449A>G	chr2.hg19:g.170557930A>G	ENSP00000352782:p.Asn150Ser		B2RC30|D3DPC7	Missense_Mutation	SNP	ENST00000359744.3	hg19	CCDS33319.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.082674	0.76528	.	.	ENSG00000144362	ENST00000359744	T	0.61980	0.06	5.96	5.96	0.96718	HAD-like domain (2);	0.000000	0.85682	U	0.000000	D	0.82508	0.5052	M	0.89353	3.025	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.84925	0.0856	10	0.52906	T	0.07	.	16.4219	0.83766	1.0:0.0:0.0:0.0	.	150	Q8TCD6	PHOP2_HUMAN	S	150	ENSP00000352782:N150S	ENSP00000352782:N150S	N	+	2	0	PHOSPHO2	170266176	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.155000	0.89643	2.282000	0.76494	0.533000	0.62120	AAT		0.308	PHOSPHO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333304.1	NM_001008489		G	170557930	A	G	170557930	3	3	669	1	0	0	0	0	1	0	0	0	11859	101	4	3	451	3	PHOSPHO2	2	170557930	Missense_Mutation	SNP	A	TCGA-HE-7128-01A-11D-1961-08	84787839	170557930	72641443	7	36673											
PSMD1	5707	hgsc.bcm.edu	37	2	231943417	231943417	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chr2:231943417delA	ENST00000308696.6	+	10	1278	c.1116delA	c.(1114-1116)gcafs	p.A372fs	PSMD1_ENST00000409643.1_Frame_Shift_Del_p.A372fs|PSMD1_ENST00000373635.4_Frame_Shift_Del_p.A372fs	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	372					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 protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	CCGTTATAGCAAACTCTTTTA	0.343																																																0													126	120	122					2																	231943417		2203	4300	6503	SO:0001589	frameshift_variant	5707			D44466	CCDS2482.1, CCDS54436.1	2q37.1	2008-05-22			ENSG00000173692	ENSG00000173692		"Proteasome (prosome, macropain) subunits"	9554	protein-coding gene	gene with protein product						8816993	Standard	NM_002807		Approved	S1, P112, Rpn2	uc002vrn.2	Q99460	OTTHUMG00000133223	ENST00000308696.6:c.1116delA	chr2.hg19:g.231943417delA	ENSP00000309474:p.Ala372fs		B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	Frame_Shift_Del	DEL	ENST00000308696.6	hg19	CCDS2482.1																																																																																				0.343	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256958.2			-	231943417	A	-	231943417	7	5	669	1	0	1	0	1	0	0	0	0	12697	117	5	0	1154	0	PSMD1	2	231943417	Frame_Shift_Del	DEL	A	TCGA-HE-7128-01A-11D-1961-08	61385487	231943417	11255956	8	36674											
OR6B2	389090	hgsc.bcm.edu	37	2	240969643	240969643	+	Missense_Mutation	SNP	G	G	C			TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chr2:240969643G>C	ENST00000402971.2	-	1	263	c.204C>G	c.(202-204)ttC>ttG	p.F68L		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	68						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)		AGATCTCCAGGAAAGACATGG	0.557																																																0													117	127	124					2																	240969643		2117	4242	6359	SO:0001583	missense	389090				CCDS46559.1	2q37.3	2012-08-09	2004-10-07	2004-10-07	ENSG00000182083	ENSG00000182083		"GPCR / Class A : Olfactory receptors"	15041	protein-coding gene	gene with protein product			"olfactory receptor, family 6, subfamily B, member 2 pseudogene"	OR6B2P			Standard	XM_005247004		Approved		uc010zoc.2	Q6IFH4	OTTHUMG00000152400	ENST00000402971.2:c.204C>G	chr2.hg19:g.240969643G>C	ENSP00000384563:p.Phe68Leu		B2RPR3|Q8NGW0	Missense_Mutation	SNP	ENST00000402971.2	hg19	CCDS46559.1	.	.	.	.	.	.	.	.	.	.	N	4.356	0.065626	0.08388	.	.	ENSG00000182083	ENST00000402971	T	0.00966	5.49	4.35	0.501	0.16925	GPCR, rhodopsin-like superfamily (1);	0.813827	0.10478	N	0.669897	T	0.00967	0.0032	L	0.29908	0.895	0.09310	N	1	B	0.19583	0.037	B	0.22601	0.04	T	0.45818	-0.9235	10	0.38643	T	0.18	.	8.2409	0.31660	0.3395:0.0:0.6605:0.0	.	68	Q6IFH4	OR6B2_HUMAN	L	68	ENSP00000384563:F68L	ENSP00000384563:F68L	F	-	3	2	OR6B2	240618316	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.228000	0.09114	-0.029000	0.13827	-0.237000	0.12165	TTC		0.557	OR6B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326079.1	NM_001005853		C	240969643	G	C	240969643	3	2	669	1	0	0	0	0	1	0	0	0	11190	1165	41	4	736	4	OR6B2	2	240969643	Missense_Mutation	SNP	G	TCGA-HE-7128-01A-11D-1961-08	9026226	240969643	2229730	9	36675											
ERC2	26059	hgsc.bcm.edu	37	3	56026194	56026194	+	Missense_Mutation	SNP	G	G	T			TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chr3:56026194G>T	ENST00000288221.6	-	11	2401	c.2146C>A	c.(2146-2148)Cgc>Agc	p.R716S		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	716						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CACTCGTCGCGGTAGTAAGAC	0.473																																																0													192	187	189					3																	56026194		1911	4126	6037	SO:0001583	missense	26059			AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.2146C>A	chr3.hg19:g.56026194G>T	ENSP00000288221:p.Arg716Ser		Q2T9F6|Q86TK4	Missense_Mutation	SNP	ENST00000288221.6	hg19	CCDS46851.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.699414	0.48307	.	.	ENSG00000187672	ENST00000288221	T	0.43688	0.94	5.69	5.69	0.88448	.	0.049024	0.85682	D	0.000000	T	0.42404	0.1201	M	0.70275	2.135	0.40723	D	0.982676	P	0.34815	0.47	B	0.30646	0.118	T	0.48625	-0.9019	10	0.66056	D	0.02	-8.2645	12.8431	0.57815	0.0:0.0:0.7287:0.2713	.	716	O15083	ERC2_HUMAN	S	716	ENSP00000288221:R716S	ENSP00000288221:R716S	R	-	1	0	ERC2	56001234	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	4.782000	0.62396	2.699000	0.92147	0.591000	0.81541	CGC		0.473	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576		T	56026194	G	T	56026194	3	4	669	1	0	0	0	0	1	0	0	0	5213	1116	39	4	745	4	ERC2	3	56026194	Missense_Mutation	SNP	G	TCGA-HE-7128-01A-11D-1961-08		56026194	141996236	10	36676											
DZIP3	9666	hgsc.bcm.edu	37	3	108324275	108324275	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chr3:108324275delT	ENST00000361582.3	+	2	252	c.22delT	c.(22-24)tttfs	p.F9fs	DZIP3_ENST00000463306.1_Frame_Shift_Del_p.F9fs	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	9					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						ACCAGATGAATTTTTTGTGAG	0.443																																																0													111	116	114					3																	108324275		2203	4300	6503	SO:0001589	frameshift_variant	9666			AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	30938	protein-coding gene	gene with protein product	"human RNA-binding ubiquitin ligase of 138 kDa", "protein phosphatase 1, regulatory subunit 66"	608672	"DAZ interacting protein 3, zinc finger"			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.22delT	chr3.hg19:g.108324275delT	ENSP00000355028:p.Phe9fs		B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Frame_Shift_Del	DEL	ENST00000361582.3	hg19	CCDS2952.1																																																																																				0.443	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648		-	108324275	T	-	108324275	7	5	669	1	0	1	0	1	0	0	0	0	4867	1493	52	0	24	0	DZIP3	3	108324275	Frame_Shift_Del	DEL	T	TCGA-HE-7128-01A-11D-1961-08	52298081	108324275	89698155	11	36677											
LIPH	200879	hgsc.bcm.edu	37	3	185241864	185241865	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08	AA	AA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chr3:185241864_185241865delAA	ENST00000296252.4	-	5	853_854	c.712_713delTT	c.(712-714)ttgfs	p.L238fs	LIPH_ENST00000424591.2_Frame_Shift_Del_p.L204fs	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	238					lipid catabolic process (GO:0016042)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			CTTACCTCCCAATATTGTTTTG	0.436																																																0																																										SO:0001589	frameshift_variant	200879			AY093498	CCDS3272.1	3q27	2012-07-31			ENSG00000163898	ENSG00000163898			18483	protein-coding gene	gene with protein product		607365				12213196, 12063250	Standard	XM_006713529		Approved	mPA-PLA1, PLA1B, mPA-PLA1alpha, LPDLR	uc003fpm.3	Q8WWY8	OTTHUMG00000156657	ENST00000296252.4:c.712_713delTT	chr3.hg19:g.185241864_185241865delAA	ENSP00000296252:p.Leu238fs		A2IBA7|Q8TEC7	Frame_Shift_Del	DEL	ENST00000296252.4	hg19	CCDS3272.1																																																																																				0.436	LIPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345153.1			-	185241865	AA	-	185241864	7	5	669	1	0	1	0	1	0	0	0	0	8826	131	5	0	666	0	LIPH	3	185241864	Frame_Shift_Del	DEL	AA	TCGA-HE-7128-01A-11D-1961-08	76917589	185241864	12780566	12	36678											
THAP9	79725	hgsc.bcm.edu	37	4	83839493	83839493	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chr4:83839493G>A	ENST00000302236.5	+	5	2179	c.2128G>A	c.(2128-2130)Gat>Aat	p.D710N	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	710					DNA integration (GO:0015074)|DNA recombination (GO:0006310)|transposition, DNA-mediated (GO:0006313)		metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transferase activity (GO:0016740)|transposase activity (GO:0004803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				AGACCTGTCAGATCATAGGCG	0.423																																																0													117	101	106					4																	83839493		2203	4300	6503	SO:0001583	missense	79725			AK091412	CCDS3598.1	4q21.3	2013-01-25			ENSG00000168152	ENSG00000168152		"THAP (C2CH-type zinc finger) domain containing"	23192	protein-coding gene	gene with protein product		612537				12575992	Standard	NM_024672		Approved	FLJ34093	uc003hnt.2	Q9H5L6	OTTHUMG00000130291	ENST00000302236.5:c.2128G>A	chr4.hg19:g.83839493G>A	ENSP00000305533:p.Asp710Asn		B3KRE2|Q59AC9	Missense_Mutation	SNP	ENST00000302236.5	hg19	CCDS3598.1	.	.	.	.	.	.	.	.	.	.	G	3.185	-0.167102	0.06461	.	.	ENSG00000168152	ENST00000302236;ENST00000536314	D	0.90069	-2.61	3.87	3.02	0.34903	.	0.462748	0.18401	N	0.142355	T	0.77805	0.4185	N	0.22421	0.69	0.09310	N	0.999994	B	0.23058	0.079	B	0.21546	0.035	T	0.62124	-0.6920	10	0.22706	T	0.39	-12.7397	5.7567	0.18176	0.1093:0.218:0.6727:0.0	.	710	Q9H5L6	THAP9_HUMAN	N	710	ENSP00000305533:D710N	ENSP00000305533:D710N	D	+	1	0	THAP9	84058517	0.016000	0.18221	0.085000	0.20634	0.025000	0.11179	1.445000	0.35079	1.203000	0.43233	0.655000	0.94253	GAT		0.423	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252633.1	NM_024672		A	83839493	G	A	83839493	3	1	669	1	0	0	0	0	1	0	0	0	15856	942	33	2	2146	2	THAP9	4	83839493	Missense_Mutation	SNP	G	TCGA-HE-7128-01A-11D-1961-08		83839493	107314783	13	36679											
NR3C2	4306	hgsc.bcm.edu	37	4	149075914	149075914	+	Missense_Mutation	SNP	G	G	C			TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chr4:149075914G>C	ENST00000358102.3	-	5	2515	c.2153C>G	c.(2152-2154)tCg>tGg	p.S718W	NR3C2_ENST00000355292.3_Missense_Mutation_p.S722W|NR3C2_ENST00000503313.1_5'UTR|NR3C2_ENST00000512865.1_Intron|NR3C2_ENST00000511528.1_Missense_Mutation_p.S722W|NR3C2_ENST00000344721.4_Missense_Mutation_p.S718W|RP11-76G10.1_ENST00000514843.1_RNA	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	718	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)	p.S718L(1)		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)	TGTGTTGACCGAGGGTTCTTT	0.567																																					Melanoma(27;428 957 40335 51025 51111)											1	Substitution - Missense(1)	large_intestine(1)											192	172	179					4																	149075914		2203	4300	6503	SO:0001583	missense	4306			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.2153C>G	chr4.hg19:g.149075914G>C	ENSP00000350815:p.Ser718Trp		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Missense_Mutation	SNP	ENST00000358102.3	hg19	CCDS3772.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.928892	0.52759	.	.	ENSG00000151623	ENST00000344721;ENST00000355292;ENST00000358102;ENST00000511528	D;D;D;D	0.90676	-2.71;-2.71;-2.71;-2.71	5.57	5.57	0.84162	.	0.406531	0.27932	N	0.017264	D	0.94318	0.8174	M	0.77313	2.365	0.52501	D	0.99995	D	0.63880	0.993	P	0.56514	0.8	D	0.93801	0.7101	9	.	.	.	.	19.5581	0.95361	0.0:0.0:1.0:0.0	.	718	B0ZBF6	.	W	718;722;718;722	ENSP00000341390:S718W;ENSP00000347441:S722W;ENSP00000350815:S718W;ENSP00000421481:S722W	.	S	-	2	0	NR3C2	149295364	0.985000	0.35326	0.611000	0.29010	0.430000	0.31655	3.814000	0.55643	2.614000	0.88457	0.655000	0.94253	TCG		0.567	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1			C	149075914	G	C	149075914	3	2	669	1	0	0	0	0	1	0	0	0	10633	1059	37	4	821	4	NR3C2	4	149075914	Missense_Mutation	SNP	G	TCGA-HE-7128-01A-11D-1961-08	65236421	149075914	42078362	14	36680											
SFRS12	140890	hgsc.bcm.edu	37	5	65466769	65466769	+	Missense_Mutation	SNP	C	C	T			TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chr5:65466769C>T	ENST00000380918.3	+	10	1790	c.1130C>T	c.(1129-1131)tCc>tTc	p.S377F	SREK1_ENST00000284041.3_3'UTR|SREK1_ENST00000334121.6_Missense_Mutation_p.S493F	NM_139168.3	NP_631907.1	Q8WXA9	SREK1_HUMAN	splicing regulatory glutamine/lysine-rich protein 1	377	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						TCTCGTAGTTCCAGCAGGTTT	0.368																																					GBM(10;31 347 27684 38976 41583)											0													60	66	64					5																	65466769		2200	4297	6497	SO:0001583	missense	140890			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.1130C>T	chr5.hg19:g.65466769C>T	ENSP00000370305:p.Ser377Phe		A4FTW3|Q2M1J0|Q86X37	Missense_Mutation	SNP	ENST00000380918.3	hg19	CCDS3991.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.67|16.67	3.186680|3.186680	0.57909|0.57909	.|.	.|.	ENSG00000153914|ENSG00000153914	ENST00000537482|ENST00000334121;ENST00000380918	.|T;T	.|0.11821	.|2.74;2.74	5.15|5.15	5.15|5.15	0.70609|0.70609	.|.	.|0.330683	.|0.31167	.|N	.|0.008136	T|T	0.11580|0.11580	0.0282|0.0282	N|N	0.19112|0.19112	0.55|0.55	0.31022|0.31022	N|N	0.718059|0.718059	.|P;P	.|0.40794	.|0.61;0.729	.|B;B	.|0.38056	.|0.135;0.264	T|T	0.02269|0.02269	-1.1185|-1.1185	6|10	0.44086|0.56958	T|D	0.13|0.05	.|.	18.2481|18.2481	0.89993|0.89993	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|377;493	.|Q8WXA9;Q8WXA9-2	.|SREK1_HUMAN;.	S|F	493|493;377	.|ENSP00000334538:S493F;ENSP00000370305:S377F	ENSP00000445557:P493S|ENSP00000334538:S493F	P|S	+|+	1|2	0|0	SREK1|SREK1	65502525|65502525	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.322000|4.322000	0.59215|0.59215	2.409000|2.409000	0.81822|0.81822	0.650000|0.650000	0.86243|0.86243	CCA|TCC		0.368	SREK1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381118.1	NM_001077199		T	65466769	C	T	65466769	3	4	669	1	0	0	0	0	1	0	0	0	14173	855	30	2	1512	2	SFRS12	5	65466769	Missense_Mutation	SNP	C	TCGA-HE-7128-01A-11D-1961-08		65466769	115448491	15	36681											
STK32A	202374	hgsc.bcm.edu	37	5	146752790	146752790	+	Missense_Mutation	SNP	C	C	A			TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chr5:146752790C>A	ENST00000397936.3	+	10	1169	c.836C>A	c.(835-837)cCg>cAg	p.P279Q	STK32A_ENST00000398523.3_Missense_Mutation_p.P279Q	NM_001112724.1	NP_001106195.1	Q8WU08	ST32A_HUMAN	serine/threonine kinase 32A	279	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.P279Q(1)		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)			CAGAACTTCCCGTATATGAAT	0.398																																																1	Substitution - Missense(1)	lung(1)											166	154	158					5																	146752790		1568	3582	5150	SO:0001583	missense	202374				CCDS47299.1, CCDS75351.1	5q32	2008-02-05			ENSG00000169302	ENSG00000169302			28317	protein-coding gene	gene with protein product						12477932	Standard	NM_001112724		Approved	MGC22688, YANK1	uc010jgn.1	Q8WU08	OTTHUMG00000163411	ENST00000397936.3:c.836C>A	chr5.hg19:g.146752790C>A	ENSP00000381030:p.Pro279Gln		B3KSY0	Missense_Mutation	SNP	ENST00000397936.3	hg19	CCDS47299.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.653447	0.67472	.	.	ENSG00000169302	ENST00000397936;ENST00000398523	T;T	0.31247	1.5;1.5	5.68	5.68	0.88126	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.170944	0.28187	N	0.016272	T	0.55924	0.1951	M	0.77313	2.365	0.80722	D	1	D;D;P	0.58620	0.983;0.961;0.861	P;P;P	0.60117	0.869;0.593;0.533	T	0.58803	-0.7572	10	0.72032	D	0.01	.	18.5479	0.91054	0.0:1.0:0.0:0.0	.	279;279;279	B7Z9H7;Q8WU08;Q8WU08-3	.;ST32A_HUMAN;.	Q	279	ENSP00000381030:P279Q;ENSP00000381535:P279Q	ENSP00000381030:P279Q	P	+	2	0	STK32A	146732983	1.000000	0.71417	0.960000	0.40013	0.482000	0.33219	5.407000	0.66363	2.676000	0.91093	0.591000	0.81541	CCG		0.398	STK32A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373306.1	NM_145001		A	146752790	C	A	146752790	3	1	669	1	0	0	0	0	1	0	0	0	15302	652	23	4	903	4	STK32A	5	146752790	Missense_Mutation	SNP	C	TCGA-HE-7128-01A-11D-1961-08	81286021	146752790	34162470	16	36682											
SCUBE3	222663	hgsc.bcm.edu	37	6	35213840	35213840	+	Missense_Mutation	SNP	C	C	A	rs142335824	byFrequency	TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chr6:35213840C>A	ENST00000274938.7	+	20	2719	c.2719C>A	c.(2719-2721)Cgt>Agt	p.R907S	SCUBE3_ENST00000394681.1_Missense_Mutation_p.R923S	NM_152753.2	NP_689966.2			signal peptide, CUB domain, EGF-like 3											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						CAACAGCGCCCGTGGCTTCCA	0.542																																																0													144	148	147					6																	35213840		2203	4300	6503	SO:0001583	missense	222663			AF452494.1	CCDS4800.1	6p21.3	2008-02-05	2004-05-19	2004-05-21		ENSG00000146197			13655	protein-coding gene	gene with protein product		614708	"CUB domain and EGF-like repeat containing 3"	CEGF3		12270931	Standard	NM_152753		Approved	FLJ34743	uc003okf.1	Q8IX30		ENST00000274938.7:c.2719C>A	chr6.hg19:g.35213840C>A	ENSP00000274938:p.Arg907Ser			Missense_Mutation	SNP	ENST00000274938.7	hg19	CCDS4800.1	.	.	.	.	.	.	.	.	.	.	C	19.30	3.800654	0.70567	.	.	ENSG00000146197	ENST00000394681;ENST00000274938	T;T	0.17691	2.26;2.26	5.63	4.68	0.58851	CUB (5);	0.000000	0.85682	D	0.000000	T	0.21145	0.0509	L	0.28054	0.825	0.47659	D	0.999488	D;D	0.76494	0.998;0.999	D;D	0.85130	0.994;0.997	T	0.02437	-1.1159	10	0.87932	D	0	.	15.5773	0.76400	0.2218:0.7782:0.0:0.0	.	923;907	Q8IX30-2;Q8IX30	.;SCUB3_HUMAN	S	923;907	ENSP00000378174:R923S;ENSP00000274938:R907S	ENSP00000274938:R907S	R	+	1	0	SCUBE3	35321818	0.995000	0.38212	1.000000	0.80357	0.979000	0.70002	1.636000	0.37144	2.659000	0.90383	0.650000	0.86243	CGT		0.542	SCUBE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040275.1	NM_152753		A	35213840	C	A	35213840	3	1	669	1	0	0	0	0	1	0	0	0	13952	652	23	4	2797	4	SCUBE3	6	35213840	Missense_Mutation	SNP	C	TCGA-HE-7128-01A-11D-1961-08		35213840	135901227	17	36683											
SGK1	6446	hgsc.bcm.edu	37	6	134495704	134495704	+	Missense_Mutation	SNP	T	T	C			TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chr6:134495704T>C	ENST00000237305.7	-	2	185	c.97A>G	c.(97-99)Atg>Gtg	p.M33V	SGK1_ENST00000413996.3_Missense_Mutation_p.M47V|SGK1_ENST00000367858.5_Missense_Mutation_p.M128V|SGK1_ENST00000489458.2_5'Flank|SGK1_ENST00000528577.1_Missense_Mutation_p.M61V|SGK1_ENST00000475719.2_Missense_Mutation_p.M33V|SGK1_ENST00000367857.5_Missense_Mutation_p.M23V	NM_005627.3	NP_005618.2	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	33	Necessary for localization to the mitochondria.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|ion transmembrane transport (GO:0034220)|long-term memory (GO:0007616)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of gastric acid secretion (GO:0060453)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|renal sodium ion absorption (GO:0070294)|response to stress (GO:0006950)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		TTCAGACCCATCCTCCTCTGC	0.423											OREG0017675	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													81	81	81					6																	134495704		2203	4300	6503	SO:0001583	missense	6446			AJ000512	CCDS5170.1, CCDS47476.1, CCDS47477.1, CCDS47478.1	6q23	2008-02-05	2007-12-05	2007-12-05	ENSG00000118515	ENSG00000118515			10810	protein-coding gene	gene with protein product		602958	"serum/glucocorticoid regulated kinase"	SGK		9114008, 9722955	Standard	NM_005627		Approved		uc003qeo.4	O00141	OTTHUMG00000015613	ENST00000237305.7:c.97A>G	chr6.hg19:g.134495704T>C	ENSP00000237305:p.Met33Val	1611	B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	Missense_Mutation	SNP	ENST00000237305.7	hg19	CCDS5170.1	.	.	.	.	.	.	.	.	.	.	T	16.43	3.121060	0.56613	.	.	ENSG00000118515	ENST00000367858;ENST00000413996;ENST00000237305;ENST00000367857;ENST00000528577;ENST00000475719;ENST00000461976	T;T;T;T;T;T;T	0.38401	1.66;1.66;1.66;1.66;1.66;1.66;1.14	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.47488	0.1448	M	0.62723	1.935	0.80722	D	1	B;P;B;B;B;B	0.48911	0.01;0.917;0.004;0.001;0.019;0.002	B;D;B;B;B;B	0.63488	0.018;0.915;0.008;0.01;0.032;0.008	T	0.38628	-0.9652	10	0.41790	T	0.15	.	16.3127	0.82898	0.0:0.0:0.0:1.0	.	61;47;33;23;128;33	O00141-5;O00141-3;E9PR89;O00141-4;O00141-2;O00141	.;.;.;.;.;SGK1_HUMAN	V	128;47;33;23;61;33;97	ENSP00000356832:M128V;ENSP00000396242:M47V;ENSP00000237305:M33V;ENSP00000356831:M23V;ENSP00000434450:M61V;ENSP00000434302:M33V;ENSP00000435577:M97V	ENSP00000237305:M33V	M	-	1	0	SGK1	134537397	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.040000	0.89188	2.246000	0.74042	0.533000	0.62120	ATG		0.423	SGK1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042312.2			C	134495704	T	C	134495704	3	2	669	1	0	0	0	0	1	0	0	0	14213	1435	50	3	1242	3	SGK1	6	134495704	Missense_Mutation	SNP	T	TCGA-HE-7128-01A-11D-1961-08	99281864	134495704	36619363	18	36684											
MLL5	55904	hgsc.bcm.edu	37	7	104748161	104748161	+	Missense_Mutation	SNP	A	A	T			TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chr7:104748161A>T	ENST00000311117.3	+	22	3802	c.3257A>T	c.(3256-3258)gAc>gTc	p.D1086V	KMT2E_ENST00000257745.4_Missense_Mutation_p.D1086V|KMT2E_ENST00000334914.7_Missense_Mutation_p.D141V|SRPK2_ENST00000493638.1_5'Flank|CTB-152G17.6_ENST00000607968.1_RNA|KMT2E_ENST00000334877.4_Missense_Mutation_p.D1086V	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	1086					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)										AACTTGAGGGACCTGACACCC	0.498																																																0													83	82	82					7																	104748161		2203	4300	6503	SO:0001583	missense	55904			AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	18541	protein-coding gene	gene with protein product		608444	"myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.3257A>T	chr7.hg19:g.104748161A>T	ENSP00000312379:p.Asp1086Val		B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	ENST00000311117.3	hg19	CCDS34723.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.704341	0.88924	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745;ENST00000334914	D;D;D;T	0.96136	-3.92;-3.2;-3.92;-0.21	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.96222	0.8768	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97101	0.9797	10	0.87932	D	0	.	16.5655	0.84588	1.0:0.0:0.0:0.0	.	1086	Q8IZD2	MLL5_HUMAN	V	1086;1086;1086;1006;1086;141	ENSP00000312379:D1086V;ENSP00000335599:D1086V;ENSP00000257745:D1086V;ENSP00000333986:D141V	ENSP00000257745:D1086V	D	+	2	0	MLL5	104535397	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	8.690000	0.91272	2.302000	0.77476	0.533000	0.62120	GAC		0.498	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			T	104748161	A	T	104748161	3	4	669	1	0	0	0	0	1	0	0	0	9626	275	10	5	3335	5	MLL5	7	104748161	Missense_Mutation	SNP	A	TCGA-HE-7128-01A-11D-1961-08		104748161	54390502	19	36685											
TTC26	79989	hgsc.bcm.edu	37	7	138822639	138822639	+	Missense_Mutation	SNP	T	T	C			TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chr7:138822639T>C	ENST00000464848.1	+	3	268	c.188T>C	c.(187-189)aTt>aCt	p.I63T	TTC26_ENST00000343187.4_Intron|TTC26_ENST00000474035.2_Missense_Mutation_p.I63T|TTC26_ENST00000430935.1_Missense_Mutation_p.I63T|TTC26_ENST00000495038.1_Missense_Mutation_p.I63T|TTC26_ENST00000481482.1_3'UTR|TTC26_ENST00000478836.2_Missense_Mutation_p.I63T			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	63					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						AATTTGTGGATTGGATATTGT	0.323																																																0													154	153	153					7																	138822639		2203	4300	6503	SO:0001583	missense	79989			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.188T>C	chr7.hg19:g.138822639T>C	ENSP00000419279:p.Ile63Thr		A4D1S3|B7Z5M0|C9J2N7|F8W724|Q9H9S8|Q9NTC0	Missense_Mutation	SNP	ENST00000464848.1	hg19	CCDS5852.1	.	.	.	.	.	.	.	.	.	.	T	15.05	2.717383	0.48622	.	.	ENSG00000105948	ENST00000430935;ENST00000495038;ENST00000474035;ENST00000478836;ENST00000464848	T;T;T;T;T	0.77229	-1.08;1.52;-1.08;1.15;-1.08	6.05	6.05	0.98169	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.287285	0.37761	N	0.001947	T	0.76550	0.4003	L	0.39245	1.2	0.58432	D	0.999996	P;B;P;B;B	0.41188	0.605;0.012;0.741;0.004;0.137	P;B;P;B;B	0.45660	0.489;0.018;0.489;0.012;0.062	T	0.77720	-0.2482	10	0.52906	T	0.07	.	15.5826	0.76455	0.0:0.0:0.0:1.0	.	63;63;63;63;63	B7Z2T3;C9J2N7;B7Z6R6;A0AVF1;Q96CU4	.;.;.;TTC26_HUMAN;.	T	63	ENSP00000410655:I63T;ENSP00000418788:I63T;ENSP00000443253:I63T;ENSP00000419178:I63T;ENSP00000419279:I63T	ENSP00000410655:I63T	I	+	2	0	TTC26	138473179	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.353000	0.59411	2.323000	0.78572	0.533000	0.62120	ATT		0.323	TTC26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348919.2	NM_024926		C	138822639	T	C	138822639	3	2	669	1	0	0	0	0	1	0	0	0	16699	1493	52	3	198	3	TTC26	7	138822639	Missense_Mutation	SNP	T	TCGA-HE-7128-01A-11D-1961-08	34074478	138822639	20316024	20	36686											
AGPAT6	137964	hgsc.bcm.edu	37	8	41467379	41467379	+	Silent	SNP	C	C	T			TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chr8:41467379C>T	ENST00000396987.3	+	4	1368	c.441C>T	c.(439-441)agC>agT	p.S147S	RP11-360L9.8_ENST00000581909.1_RNA	NM_178819.3	NP_848934.1	Q86UL3	GPAT4_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 6	147					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|diacylglycerol metabolic process (GO:0046339)|fatty acid metabolic process (GO:0006631)|glandular epithelial cell maturation (GO:0002071)|glycerophospholipid biosynthetic process (GO:0046474)|lactation (GO:0007595)|lipid biosynthetic process (GO:0008610)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|regulation of multicellular organism growth (GO:0040014)|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)|membrane (GO:0016020)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			endometrium(3)|kidney(2)|large_intestine(3)|lung(6)	14	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)			ACCTGCTGAGCAGAACCAATT	0.493																																																0													98	96	97					8																	41467379		2203	4300	6503	SO:0001819	synonymous_variant	137964			AF406612	CCDS6117.1	8p11.21	2013-02-05	2013-02-05			ENSG00000158669	2.3.1.15	"1-acylglycerol-3-phosphate O-acyltransferases"	20880	protein-coding gene	gene with protein product	"lysophosphatidic acid acyltransferase, zeta"	608143	"1-acylglycerol-3-phosphate O-acyltransferase 6 (lysophosphatidic acid acyltransferase, zeta)"			12938015	Standard	NM_178819		Approved	DKFZp586M1819, LPAAT-zeta	uc003xnz.2	Q86UL3		ENST00000396987.3:c.441C>T	chr8.hg19:g.41467379C>T			Q86V89	Silent	SNP	ENST00000396987.3	hg19	CCDS6117.1																																																																																				0.493	AGPAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377158.1	NM_178819		T	41467379	C	T	41467379	2	4	669	1	0	0	0	0	0	0	0	1	391	709	25	2		2	AGPAT6	8	41467379	Silent	SNP	C	TCGA-HE-7128-01A-11D-1961-08		41467379	104896643	21	36687											
CDC37L1	55664	hgsc.bcm.edu	37	9	4706079	4706079	+	Silent	SNP	A	A	G	rs200977934		TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chr9:4706079A>G	ENST00000381854.3	+	7	1183	c.981A>G	c.(979-981)gaA>gaG	p.E327E		NM_017913.2	NP_060383.2	Q7L3B6	CD37L_HUMAN	cell division cycle 37-like 1	327	Interaction with Hsp70.|Required for interaction with STIP1.					cytoplasm (GO:0005737)				breast(1)|kidney(1)|lung(2)	4	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0318)		TACATAAAGAAGATGATGAAC	0.393																																																0													130	112	118					9																	4706079		2203	4300	6503	SO:0001819	synonymous_variant	55664			AK000497	CCDS6454.1	9p24.1	2013-01-17	2013-01-17		ENSG00000106993	ENSG00000106993			17179	protein-coding gene	gene with protein product		610346	"CDC37 cell division cycle 37 homolog (S. cerevisiae)-like 1", "cell division cycle 37 homolog (S. cerevisiae)-like 1"				Standard	NM_017913		Approved	HARC, FLJ20639, CDC37B	uc003zio.3	Q7L3B6	OTTHUMG00000019465	ENST00000381854.3:c.981A>G	chr9.hg19:g.4706079A>G			B1AL70|Q9NWS3|Q9NX16	Silent	SNP	ENST00000381854.3	hg19	CCDS6454.1																																																																																				0.393	CDC37L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051564.1	NM_017913		G	4706079	A	G	4706079	2	3	669	1	0	0	0	0	0	0	0	1	3071	69	3	3		3	CDC37L1	9	4706079	Silent	SNP	A	TCGA-HE-7128-01A-11D-1961-08		4706079	136507352	22	36688											
OGN	4969	hgsc.bcm.edu	37	9	95148550	95148550	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chr9:95148550delA	ENST00000262551.4	-	6	1079	c.659delT	c.(658-660)ttgfs	p.L220fs	OGN_ENST00000375561.5_Frame_Shift_Del_p.L220fs|CENPP_ENST00000375587.3_Intron	NM_033014.2	NP_148935.1	P20774	MIME_HUMAN	osteoglycin	220					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|negative regulation of smooth muscle cell proliferation (GO:0048662)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	13						ATTATGGTCCAAGTAGAGGAA	0.368																																																0													195	188	190					9																	95148550		2203	4300	6503	SO:0001589	frameshift_variant	4969			AI424992	CCDS6695.1	9q22	2008-02-05	2007-02-16		ENSG00000106809	ENSG00000106809		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	8126	protein-coding gene	gene with protein product	"mimecan proteoglycan"	602383	"osteoglycin (osteoinductive factor)"			2372374	Standard	NM_033014		Approved	mimecan, OIF, SLRR3A	uc004asa.3	P20774	OTTHUMG00000020224	ENST00000262551.4:c.659delT	chr9.hg19:g.95148550delA	ENSP00000262551:p.Leu220fs		Q6FIB0|Q9UF90|Q9UNK5	Frame_Shift_Del	DEL	ENST00000262551.4	hg19	CCDS6695.1																																																																																				0.368	OGN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053087.1	NM_024416		-	95148550	A	-	95148550	7	5	669	1	0	1	0	1	0	0	0	0	10848	131	5	0	245	0	OGN	9	95148550	Frame_Shift_Del	DEL	A	TCGA-HE-7128-01A-11D-1961-08	90442471	95148550	46064881	23	36689											
C9orf7	11094	hgsc.bcm.edu	37	9	136333115	136333115	+	Silent	SNP	G	G	A	rs150411088		TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chr9:136333115G>A	ENST00000316948.4	+	4	473	c.393G>A	c.(391-393)acG>acA	p.T131T	CACFD1_ENST00000540581.1_Silent_p.T131T|CACFD1_ENST00000542192.1_Silent_p.T89T|CACFD1_ENST00000291722.7_Silent_p.T89T	NM_017586.3	NP_060056.1	Q9UGQ2	FLOWR_HUMAN	calcium channel flower domain containing 1	131					synaptic vesicle endocytosis (GO:0048488)	integral component of synaptic vesicle membrane (GO:0030285)	calcium channel activity (GO:0005262)										CCTTTGCTACGGGGGTGCTGT	0.657																																																0								G	,,,	1,4405	2.1+/-5.4	0,1,2202	76	68	70		267,393,267,393	-10.8	0.2	9	dbSNP_134	70	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	C9orf7	NM_001135775.2,NM_001242369.1,NM_001242370.1,NM_017586.3	,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,	89/131,131/234,89/192,131/173	136333115	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	11094				CCDS6974.1, CCDS48051.1, CCDS56591.1, CCDS56592.1	9q34	2012-03-06	2012-03-06	2012-03-06	ENSG00000160325	ENSG00000160325			1365	protein-coding gene	gene with protein product		613104	"chromosome 9 open reading frame 7"	C9orf7		19737521	Standard	NM_001242370		Approved	D9S2135, flower	uc011mdh.1	Q9UGQ2	OTTHUMG00000020875	ENST00000316948.4:c.393G>A	chr9.hg19:g.136333115G>A			B7Z3T8|B7Z5E1|F5GXX4|Q5SXD4|Q8NBM6	Silent	SNP	ENST00000316948.4	hg19	CCDS6974.1																																																																																				0.657	CACFD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054915.1	NM_017586		A	136333115	G	A	136333115	2	1	669	1	0	0	0	0	0	0	0	1	2495	1103	39	1		1	C9orf7	9	136333115	Silent	SNP	G	TCGA-HE-7128-01A-11D-1961-08	41184565	136333115	4880316	24	36690											
ARHGAP19	84986	hgsc.bcm.edu	37	10	98995038	98995038	+	Missense_Mutation	SNP	C	C	A	rs368950765		TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chr10:98995038C>A	ENST00000358531.4	-	9	1248	c.1220G>T	c.(1219-1221)cGa>cTa	p.R407L	ARHGAP19_ENST00000487035.1_5'UTR|ARHGAP19_ENST00000355366.5_Missense_Mutation_p.R398L|ARHGAP19-SLIT1_ENST00000358308.3_Missense_Mutation_p.R378L|ARHGAP19-SLIT1_ENST00000453547.2_Missense_Mutation_p.R407L|ARHGAP19-SLIT1_ENST00000316676.8_Missense_Mutation_p.R407L|ARHGAP19_ENST00000371027.1_Missense_Mutation_p.R398L	NM_001204300.1|NM_032900.5	NP_001191229.1|NP_116289.4	Q14CB8	RHG19_HUMAN	Rho GTPase activating protein 19	407					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|urinary_tract(1)	13		Colorectal(252;0.0854)		Epithelial(162;7.65e-09)|all cancers(201;4.49e-07)		AGAAGGTTCTCGCCCTGGTGT	0.433																																																0													143	143	143					10																	98995038		2203	4300	6503	SO:0001583	missense	84986			AK074122	CCDS7454.2, CCDS58092.1, CCDS73175.1	10q24.2	2011-06-29			ENSG00000213390	ENSG00000213390		"Rho GTPase activating proteins"	23724	protein-coding gene	gene with protein product		611587					Standard	NM_032900		Approved	FLJ00194, MGC14258	uc001knb.3	Q14CB8	OTTHUMG00000018845	ENST00000358531.4:c.1220G>T	chr10.hg19:g.98995038C>A	ENSP00000351333:p.Arg407Leu		A1XCP1|B4DZR1|Q14CF2|Q5J8M2|Q5T460|Q5T462|Q68DG6|Q8N9X1|Q8NF34|Q8TEK1	Missense_Mutation	SNP	ENST00000358531.4	hg19	CCDS7454.2	.	.	.	.	.	.	.	.	.	.	C	12.07	1.828677	0.32329	.	.	ENSG00000213390	ENST00000453547;ENST00000316676;ENST00000355366;ENST00000358531;ENST00000371027;ENST00000393817;ENST00000358308	T;T;T;T;T;T	0.09817	3.09;3.11;3.11;3.11;3.11;2.94	5.44	2.43	0.29744	.	1.149010	0.06642	U	0.761313	T	0.09774	0.0240	L	0.36672	1.1	0.09310	N	1	B;B;B	0.25486	0.117;0.078;0.127	B;B;B	0.28011	0.056;0.039;0.085	T	0.35126	-0.9801	10	0.49607	T	0.09	-6.5763	3.8056	0.08776	0.1369:0.5215:0.2498:0.0918	.	378;407;398	Q14CB8-6;Q14CB8;Q14CB8-3	.;RHG19_HUMAN;.	L	407;407;398;407;398;226;378	ENSP00000414774:R407L;ENSP00000324468:R407L;ENSP00000347526:R398L;ENSP00000351333:R407L;ENSP00000360066:R398L;ENSP00000351058:R378L	ENSP00000324468:R407L	R	-	2	0	ARHGAP19	98985028	0.000000	0.05858	0.952000	0.39060	0.704000	0.40688	0.227000	0.17795	1.428000	0.47296	0.655000	0.94253	CGA		0.433	ARHGAP19-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049647.2	NM_032900		A	98995038	C	A	98995038	3	1	669	1	0	0	0	0	1	0	0	0	869	884	31	4	280	4	ARHGAP19	10	98995038	Missense_Mutation	SNP	C	TCGA-HE-7128-01A-11D-1961-08		98995038	36539709	25	36691											
OR51A7	119687	hgsc.bcm.edu	37	11	4928976	4928976	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chr11:4928976delT	ENST00000359350.4	+	1	377	c.377delT	c.(376-378)attfs	p.I126fs	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	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)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		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)		TTTCTTGCCATTCACAATCCC	0.393																																																0													102	98	99					11																	4928976		2201	4298	6499	SO:0001589	frameshift_variant	119687			AB065525	CCDS31364.1	11p15.4	2012-08-09			ENSG00000176895	ENSG00000176895		"GPCR / Class A : Olfactory receptors"	15188	protein-coding gene	gene with protein product							Standard	NM_001004749		Approved		uc010qyq.2	Q8NH64	OTTHUMG00000066502	ENST00000359350.4:c.377delT	chr11.hg19:g.4928976delT	ENSP00000352305:p.Ile126fs		Q6IFH8	Frame_Shift_Del	DEL	ENST00000359350.4	hg19	CCDS31364.1																																																																																				0.393	OR51A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142175.1	NM_001004749		-	4928976	T	-	4928976	7	5	669	1	0	1	0	1	0	0	0	0	11090	1493	52	0	379	0	OR51A7	11	4928976	Frame_Shift_Del	DEL	T	TCGA-HE-7128-01A-11D-1961-08		4928976	130077540	26	36692											
NDUFS3	4722	hgsc.bcm.edu	37	11	47604000	47604000	+	Missense_Mutation	SNP	C	C	T			TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chr11:47604000C>T	ENST00000263774.4	+	6	689	c.607C>T	c.(607-609)Cct>Tct	p.P203S	NDUFS3_ENST00000533507.1_3'UTR	NM_004551.2	NP_004542.1	O75489	NDUS3_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)	203					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|negative regulation of cell growth (GO:0030308)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)	9					Doxorubicin(DB00997)	GAAAGACTTTCCTCTATCTGG	0.512																																					Pancreas(15;551 601 22438 23457 52512)											0													261	270	267					11																	47604000		2201	4298	6499	SO:0001583	missense	4722			AF067139	CCDS7941.1	11p11.11	2011-08-03	2002-08-29		ENSG00000213619	ENSG00000213619	1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7710	protein-coding gene	gene with protein product	"complex I 30kDa subunit", "NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial"	603846	"NADH dehydrogenase (ubiquinone) Fe-S protein 3 (30kD) (NADH-coenzyme Q reductase)"			9763677	Standard	NM_004551		Approved	CI-30	uc001nga.2	O75489	OTTHUMG00000166893	ENST00000263774.4:c.607C>T	chr11.hg19:g.47604000C>T	ENSP00000263774:p.Pro203Ser		B2R9J1|B4DFM8|Q9UNQ8	Missense_Mutation	SNP	ENST00000263774.4	hg19	CCDS7941.1	.	.	.	.	.	.	.	.	.	.	C	33	5.261674	0.95368	.	.	ENSG00000213619	ENST00000263774	D	0.88124	-2.34	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.95544	0.8552	M	0.93507	3.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72982	0.972;0.979	D	0.95909	0.8921	10	0.87932	D	0	-17.4651	20.206	0.98277	0.0:1.0:0.0:0.0	.	203;129	O75489;Q9UF24	NDUS3_HUMAN;.	S	203	ENSP00000263774:P203S	ENSP00000263774:P203S	P	+	1	0	NDUFS3	47560576	1.000000	0.71417	0.999000	0.59377	0.932000	0.56968	7.474000	0.81024	2.785000	0.95823	0.655000	0.94253	CCT		0.512	NDUFS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391749.1	NM_004551		T	47604000	C	T	47604000	3	4	669	1	0	0	0	0	1	0	0	0	10295	855	30	2	629	2	NDUFS3	11	47604000	Missense_Mutation	SNP	C	TCGA-HE-7128-01A-11D-1961-08	42675024	47604000	87402516	27	36693											
ARHGEF17	9828	hgsc.bcm.edu	37	11	73020521	73020521	+	Missense_Mutation	SNP	G	G	T			TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chr11:73020521G>T	ENST00000263674.3	+	1	1188	c.838G>T	c.(838-840)Gac>Tac	p.D280Y	RP11-800A3.7_ENST00000546324.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	280					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CAGTGACGACGACCGAGACGG	0.697																																																0													16	21	20					11																	73020521		2151	4242	6393	SO:0001583	missense	9828			AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"Rho guanine nucleotide exchange factors"	21726	protein-coding gene	gene with protein product	"Rho-specific guanine-nucleotide exchange factor 164 kDa", "tumor endothelial marker 4"					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.838G>T	chr11.hg19:g.73020521G>T	ENSP00000263674:p.Asp280Tyr		B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	ENST00000263674.3	hg19	CCDS8221.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.677629	0.47886	.	.	ENSG00000110237	ENST00000263674	T	0.68181	-0.31	4.72	4.72	0.59763	.	0.000000	0.40554	N	0.001072	T	0.60495	0.2273	L	0.27053	0.805	0.09310	N	0.999994	P	0.49447	0.924	P	0.46419	0.516	T	0.60239	-0.7302	10	0.87932	D	0	-17.9023	15.1972	0.73100	0.0:0.0:1.0:0.0	.	280	Q96PE2	ARHGH_HUMAN	Y	280	ENSP00000263674:D280Y	ENSP00000263674:D280Y	D	+	1	0	ARHGEF17	72698169	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	4.087000	0.57671	2.179000	0.69175	0.313000	0.20887	GAC		0.697	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		T	73020521	G	T	73020521	3	4	669	1	0	0	0	0	1	0	0	0	900	1058	37	4	840	4	ARHGEF17	11	73020521	Missense_Mutation	SNP	G	TCGA-HE-7128-01A-11D-1961-08	25416521	73020521	61985995	28	36694											
KCTD14	65987	hgsc.bcm.edu	37	11	77727916	77727916	+	Missense_Mutation	SNP	C	C	A	rs372373172	byFrequency	TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chr11:77727916C>A	ENST00000353172.5	-	2	535	c.491G>T	c.(490-492)cGg>cTg	p.R164L	RP11-7I15.3_ENST00000533697.1_RNA|KCTD14_ENST00000533144.1_Missense_Mutation_p.R134L	NM_001203260.1|NM_001203262.1|NM_001282406.1|NM_023930.3	NP_001190189.1|NP_001190191.1|NP_001269335.1|NP_076419.2	Q9BQ13	KCD14_HUMAN	potassium channel tetramerization domain containing 14	164					protein homooligomerization (GO:0051260)					endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	15	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1e-24)			GCTGGACTTCCGTGCTGTTAT	0.532																																					NSCLC(86;414 1416 18100 32729 49271)|Esophageal Squamous(156;1132 1858 11406 36132 46748)											0													116	110	112					11																	77727916		2200	4292	6492	SO:0001583	missense	65987			BC001062	CCDS8255.2, CCDS60908.1	11q13.4	2013-06-20	2013-06-20		ENSG00000151364	ENSG00000151364			23295	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 14"			12477932	Standard	NM_023930		Approved	MGC2376	uc001oyw.4	Q9BQ13	OTTHUMG00000150224	ENST00000353172.5:c.491G>T	chr11.hg19:g.77727916C>A	ENSP00000316482:p.Arg164Leu		B2R9R8	Missense_Mutation	SNP	ENST00000353172.5	hg19	CCDS8255.2	.	.	.	.	.	.	.	.	.	.	C	20.7	4.030615	0.75504	.	.	ENSG00000151364	ENST00000353172;ENST00000533144	T;T	0.71341	-0.56;-0.49	4.52	4.52	0.55395	.	0.059470	0.64402	D	0.000001	D	0.84515	0.5489	M	0.81802	2.56	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.87008	0.2121	10	0.72032	D	0.01	.	16.4381	0.83884	0.0:1.0:0.0:0.0	.	164	Q9BQ13	KCD14_HUMAN	L	164;134	ENSP00000316482:R164L;ENSP00000431155:R134L	ENSP00000316482:R164L	R	-	2	0	KCTD14	77405564	0.999000	0.42202	0.061000	0.19648	0.015000	0.08874	4.182000	0.58310	2.356000	0.79943	0.561000	0.74099	CGG		0.532	KCTD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316888.1	NM_023930		A	77727916	C	A	77727916	3	1	669	1	0	0	0	0	1	0	0	0	8103	652	23	4	280	4	KCTD14	11	77727916	Missense_Mutation	SNP	C	TCGA-HE-7128-01A-11D-1961-08	4707395	77727916	57278600	29	36695											
MLL2	8085	hgsc.bcm.edu	37	12	49446075	49446075	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chr12:49446075G>A	ENST00000301067.7	-	10	1390	c.1391C>T	c.(1390-1392)gCa>gTa	p.A464V		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	464	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)										CAGGCGTGATGCCTCAGGTGG	0.657																																																0													88	98	94					12																	49446075		2162	4235	6397	SO:0001583	missense	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.1391C>T	chr12.hg19:g.49446075G>A	ENSP00000301067:p.Ala464Val		O14687	Missense_Mutation	SNP	ENST00000301067.7	hg19	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	7.479	0.648310	0.14516	.	.	ENSG00000167548	ENST00000301067	T	0.80393	-1.37	3.73	2.82	0.32997	.	.	.	.	.	T	0.58807	0.2148	N	0.08118	0	0.21841	N	0.999512	P	0.38395	0.629	B	0.29440	0.102	T	0.53844	-0.8381	9	0.87932	D	0	.	8.8235	0.35041	0.0:0.0:0.5915:0.4085	.	464	O14686	MLL2_HUMAN	V	464	ENSP00000301067:A464V	ENSP00000301067:A464V	A	-	2	0	MLL2	47732342	0.989000	0.36119	0.999000	0.59377	0.673000	0.39480	0.945000	0.29056	1.130000	0.42092	0.313000	0.20887	GCA		0.657	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			A	49446075	G	A	49446075	3	1	669	1	0	0	0	0	1	0	0	0	9623	1319	46	2	15402	2	MLL2	12	49446075	Missense_Mutation	SNP	G	TCGA-HE-7128-01A-11D-1961-08		49446075	84405820	30	36696											
HSPB8	26353	hgsc.bcm.edu	37	12	119617182	119617182	+	Missense_Mutation	SNP	G	G	T			TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chr12:119617182G>T	ENST00000281938.2	+	1	736	c.65G>T	c.(64-66)cGg>cTg	p.R22L	RP11-64B16.3_ENST00000538405.1_RNA|RP11-64B16.4_ENST00000535921.1_RNA	NM_014365.2	NP_055180.1	Q9UJY1	HSPB8_HUMAN	heat shock 22kDa protein 8	22					cell death (GO:0008219)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	14	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GACCCCTTCCGGGACTCTCCC	0.632																																																0													98	114	109					12																	119617182		2203	4300	6503	SO:0001583	missense	26353			AF191017	CCDS9189.1	12q24.23	2014-09-17	2004-04-23					"Heat shock proteins / HSPB"	30171	protein-coding gene	gene with protein product		608014	"heat shock 27kDa protein 8"			10833516, 11085516	Standard	NM_014365		Approved	H11, E2IG1, HSP22, HspB8	uc001txb.3	Q9UJY1		ENST00000281938.2:c.65G>T	chr12.hg19:g.119617182G>T	ENSP00000281938:p.Arg22Leu		B2R6A6|Q6FIH3|Q9UKS3	Missense_Mutation	SNP	ENST00000281938.2	hg19	CCDS9189.1	.	.	.	.	.	.	.	.	.	.	G	34	5.327752	0.95733	.	.	ENSG00000152137	ENST00000281938	D	0.88277	-2.36	4.42	4.42	0.53409	.	0.059974	0.64402	D	0.000003	D	0.92515	0.7623	M	0.72894	2.215	0.58432	D	0.999999	D	0.63880	0.993	P	0.58013	0.831	D	0.92579	0.6073	9	.	.	.	.	17.2157	0.86943	0.0:0.0:1.0:0.0	.	22	Q9UJY1	HSPB8_HUMAN	L	22	ENSP00000281938:R22L	.	R	+	2	0	HSPB8	118101565	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.646000	0.91053	2.294000	0.77228	0.563000	0.77884	CGG		0.632	HSPB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401647.1	NM_014365		T	119617182	G	T	119617182	3	4	669	1	0	0	0	0	1	0	0	0	7425	1116	39	4	67	4	HSPB8	12	119617182	Missense_Mutation	SNP	G	TCGA-HE-7128-01A-11D-1961-08	70171107	119617182	14234713	31	36697											
OGFOD2	79676	hgsc.bcm.edu	37	12	123463804	123463804	+	Missense_Mutation	SNP	C	C	G			TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chr12:123463804C>G	ENST00000228922.7	+	7	996	c.964C>G	c.(964-966)Cgt>Ggt	p.R322G	OGFOD2_ENST00000454694.2_Missense_Mutation_p.R158G|ARL6IP4_ENST00000543566.1_5'Flank|RP11-197N18.2_ENST00000540866.2_RNA|OGFOD2_ENST00000397389.2_Missense_Mutation_p.R262G|ARL6IP4_ENST00000357866.4_5'Flank|ARL6IP4_ENST00000439686.2_5'Flank|OGFOD2_ENST00000536150.1_Missense_Mutation_p.R158G|OGFOD2_ENST00000538628.1_Missense_Mutation_p.R158G|ARL6IP4_ENST00000315580.5_5'Flank|ARL6IP4_ENST00000412505.2_5'Flank|OGFOD2_ENST00000545612.1_Missense_Mutation_p.R158G|ABCB9_ENST00000542678.1_5'UTR|OGFOD2_ENST00000545317.1_Missense_Mutation_p.R158G|ARL6IP4_ENST00000453766.2_5'Flank|OGFOD2_ENST00000538755.1_Missense_Mutation_p.R158G|ARL6IP4_ENST00000454885.2_5'Flank|ARL6IP4_ENST00000426960.2_5'Flank|ARL6IP4_ENST00000392435.2_5'Flank			Q6N063	OGFD2_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 2	322							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)			breast(1)|endometrium(2)|lung(4)|pancreas(1)	8	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)	Vitamin C(DB00126)	CATGTGCTGCCGTGAGCCCGA	0.647																																																0													42	49	47					12																	123463804		2166	4249	6415	SO:0001583	missense	79676			AK094820	CCDS41855.1	12q24.31	2010-11-23			ENSG00000111325	ENSG00000111325			25823	protein-coding gene	gene with protein product						12477932	Standard	NM_024623		Approved	FLJ13491, FLJ37501	uc001udz.1	Q6N063		ENST00000228922.7:c.964C>G	chr12.hg19:g.123463804C>G	ENSP00000228922:p.Arg322Gly		B3KT24|Q4KN13|Q6N023|Q9H8K6	Missense_Mutation	SNP	ENST00000228922.7	hg19		.	.	.	.	.	.	.	.	.	.	C	2.311	-0.357912	0.05138	.	.	ENSG00000111325	ENST00000397389;ENST00000538755;ENST00000536150;ENST00000545056;ENST00000545612;ENST00000538628;ENST00000545317;ENST00000454694;ENST00000228922;ENST00000536439	D;D	0.86432	-2.12;-2.12	5.07	2.15	0.27550	.	0.765042	0.12924	N	0.427954	D	0.83691	0.5309	M	0.62723	1.935	0.09310	N	1	B;B	0.13594	0.008;0.003	B;B	0.10450	0.005;0.005	T	0.74976	-0.3480	10	0.62326	D	0.03	-12.262	8.1428	0.31093	0.2533:0.6406:0.0:0.1061	.	322;262	Q6N063;Q6N063-2	OGFD2_HUMAN;.	G	262;158;158;158;158;158;158;158;322;158	ENSP00000380544:R262G;ENSP00000228922:R322G	ENSP00000228922:R322G	R	+	1	0	OGFOD2	122029757	0.007000	0.16637	0.378000	0.26068	0.008000	0.06430	0.512000	0.22755	0.560000	0.29169	-0.954000	0.02651	CGT		0.647	OGFOD2-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000400984.1	NM_024623		G	123463804	C	G	123463804	3	3	669	1	0	0	0	0	1	0	0	0	10844	652	23	4	806	4	OGFOD2	12	123463804	Missense_Mutation	SNP	C	TCGA-HE-7128-01A-11D-1961-08	3846622	123463804	10388091	32	36698											
BTBD7	55727	hgsc.bcm.edu	37	14	93730186	93730186	+	Missense_Mutation	SNP	A	A	C			TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chr14:93730186A>C	ENST00000334746.5	-	4	1623	c.1316T>G	c.(1315-1317)tTt>tGt	p.F439C	BTBD7_ENST00000393170.2_Intron|BTBD7_ENST00000554565.1_Missense_Mutation_p.F88C	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	439	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)		GAGTTCATAAAAAACATCCGA	0.428																																																0													121	113	116					14																	93730186		2203	4300	6503	SO:0001583	missense	55727			AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"BTB/POZ domain containing"	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.1316T>G	chr14.hg19:g.93730186A>C	ENSP00000335615:p.Phe439Cys		A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Missense_Mutation	SNP	ENST00000334746.5	hg19	CCDS32146.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.453818	0.84209	.	.	ENSG00000011114	ENST00000334746;ENST00000554565	D;D	0.82526	-1.62;-1.62	4.99	4.99	0.66335	BTB/Kelch-associated (2);	0.049285	0.85682	D	0.000000	D	0.90758	0.7099	M	0.82823	2.61	0.80722	D	1	D;D	0.76494	0.999;0.992	D;P	0.65443	0.935;0.819	D	0.92297	0.5846	10	0.87932	D	0	.	14.7279	0.69357	1.0:0.0:0.0:0.0	.	88;439	Q9P203-5;Q9P203	.;BTBD7_HUMAN	C	439;88	ENSP00000335615:F439C;ENSP00000451010:F88C	ENSP00000335615:F439C	F	-	2	0	BTBD7	92799939	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	1.904000	0.55121	0.456000	0.33151	TTT		0.428	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1	NM_001002860		C	93730186	A	C	93730186	3	2	669	1	0	0	0	0	1	0	0	0	1548	14	1	5	2114	5	BTBD7	14	93730186	Missense_Mutation	SNP	A	TCGA-HE-7128-01A-11D-1961-08		93730186	13619354	33	36699											
KIAA1632	57724	hgsc.bcm.edu	37	18	43440155	43440155	+	Missense_Mutation	SNP	A	A	G			TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chr18:43440155A>G	ENST00000282041.5	-	40	6957	c.6923T>C	c.(6922-6924)cTt>cCt	p.L2308P	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	2308					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						TGCTGTTAAAAGGGGCAGCAC	0.537																																																0													76	79	78					18																	43440155		1977	4156	6133	SO:0001583	missense	57724			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.6923T>C	chr18.hg19:g.43440155A>G	ENSP00000282041:p.Leu2308Pro		A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	hg19	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	A	16.85	3.237609	0.58886	.	.	ENSG00000152223	ENST00000282041;ENST00000540322;ENST00000308403	T	0.12672	2.66	5.59	5.59	0.84812	.	.	.	.	.	T	0.36082	0.0954	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.08106	-1.0738	9	0.87932	D	0	-10.9784	15.7665	0.78131	1.0:0.0:0.0:0.0	.	2308	Q9HCE0	EPG5_HUMAN	P	2308;236;1183	ENSP00000282041:L2308P	ENSP00000282041:L2308P	L	-	2	0	EPG5	41694153	1.000000	0.71417	0.897000	0.35233	0.053000	0.15095	9.225000	0.95219	2.108000	0.64289	0.533000	0.62120	CTT		0.537	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		G	43440155	A	G	43440155	3	3	669	1	0	0	0	0	1	0	0	0	8251	72	3	3	836	3	KIAA1632	18	43440155	Missense_Mutation	SNP	A	TCGA-HE-7128-01A-11D-1961-08		43440155	34637093	34	36700											
MIDN	90007	hgsc.bcm.edu	37	19	1257046	1257048	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08	GCT	GCT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chr19:1257046_1257048delGCT	ENST00000591446.2	+	7	1591_1593	c.1182_1184delGCT	c.(1180-1185)cggctg>cgg	p.L395del	MIDN_ENST00000300952.2_In_Frame_Del_p.L395del|CIRBP_ENST00000588030.1_5'Flank			Q504T8	MIDN_HUMAN	midnolin	395						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)		AGGTGGAACGGCTGCAGCTGCTT	0.67																																																0																																										SO:0001651	inframe_deletion	90007			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.1182_1184delGCT	chr19.hg19:g.1257046_1257048delGCT	ENSP00000467679:p.Leu395del		Q96BW8	In_Frame_Del	DEL	ENST00000591446.2	hg19	CCDS32864.1																																																																																				0.67	MIDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449965.2			-	1257048	GCT	-	1257046	7	5	669	1	0	1	0	1	0	0	0	0	9581	1190	42	0	1208	0	MIDN	19	1257046	In_Frame_Del	DEL	GCT	TCGA-HE-7128-01A-11D-1961-08		1257046	57871937	35	36701											
LPHN1	22859	hgsc.bcm.edu	37	19	14263148	14263148	+	Missense_Mutation	SNP	A	A	G			TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chr19:14263148A>G	ENST00000340736.6	-	22	3934	c.3637T>C	c.(3637-3639)Tcc>Ccc	p.S1213P	CTB-55O6.12_ENST00000588658.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.S1208P|CTB-55O6.12_ENST00000592086.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	1213					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						GGGGGCGAGGAGGGATTGAAG	0.617																																																0													96	103	101					19																	14263148		2203	4300	6503	SO:0001583	missense	22859			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.3637T>C	chr19.hg19:g.14263148A>G	ENSP00000340688:p.Ser1213Pro		Q96IE7|Q9BU07|Q9HAR3	Missense_Mutation	SNP	ENST00000340736.6	hg19	CCDS32928.1	.	.	.	.	.	.	.	.	.	.	A	5.267	0.234643	0.09969	.	.	ENSG00000072071	ENST00000340736;ENST00000361434	T;T	0.66099	-0.19;-0.19	4.99	4.99	0.66335	GPCR, family 2, latrophilin, C-terminal (1);	0.061997	0.64402	D	0.000003	T	0.28797	0.0714	N	0.01235	-0.94	0.45747	D	0.998642	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.36672	-0.9738	10	0.02654	T	1	.	12.6626	0.56822	1.0:0.0:0.0:0.0	.	1208;1213	O94910-2;O94910	.;LPHN1_HUMAN	P	1213;1208	ENSP00000340688:S1213P;ENSP00000355328:S1208P	ENSP00000340688:S1213P	S	-	1	0	LPHN1	14124148	0.998000	0.40836	1.000000	0.80357	0.928000	0.56348	0.694000	0.25512	1.881000	0.54492	0.459000	0.35465	TCC		0.617	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921		G	14263148	A	G	14263148	3	3	669	1	0	0	0	0	1	0	0	0	8917	304	11	3	799	3	LPHN1	19	14263148	Missense_Mutation	SNP	A	TCGA-HE-7128-01A-11D-1961-08	13006102	14263148	44865835	36	36702											
CYP4F2	8529	hgsc.bcm.edu	37	19	16003152	16003153	+	Frame_Shift_Ins	INS	-	-	ATAT			TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chr19:16003152_16003153insATAT	ENST00000221700.6	-	5	586_587	c.491_492insATAT	c.(490-492)atgfs	p.M164fs	CYP4F2_ENST00000011989.7_Frame_Shift_Ins_p.M15fs	NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2											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						TGAAAATCTTCATATAGGGCTT	0.52																																																0																																										SO:0001589	frameshift_variant	8529			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.488_491dupATAT	chr19.hg19:g.16003153_16003156dupATAT	ENSP00000221700:p.Met164fs			Frame_Shift_Ins	INS	ENST00000221700.6	hg19	CCDS12336.1																																																																																				0.52	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	NM_001082		ATAT	16003153	-	ATAT	16003152	7	5	669	1	0	1	1	0	0	0	0	0	4190	826	29	0	1106	0	CYP4F2	19	16003152	Frame_Shift_Ins	INS	-	TCGA-HE-7128-01A-11D-1961-08	1740004	16003152	43125831	37	36703											
KCNQ2	3785	hgsc.bcm.edu	37	20	62070959	62070959	+	Silent	SNP	G	G	A			TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chr20:62070959G>A	ENST00000359125.2	-	6	1093	c.919C>T	c.(919-921)Ctg>Ttg	p.L307L	KCNQ2_ENST00000354587.3_Silent_p.L307L|KCNQ2_ENST00000344425.5_Silent_p.L307L|KCNQ2_ENST00000370224.1_Silent_p.L307L|KCNQ2_ENST00000357249.2_Silent_p.L307L|KCNQ2_ENST00000359689.1_Silent_p.L307L|KCNQ2_ENST00000344462.4_Silent_p.L307L|KCNQ2_ENST00000360480.3_Silent_p.L307L	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	307					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	ACTGCAGGCAGCGCGAAGAAG	0.637																																																0													152	116	128					20																	62070959		2203	4300	6503	SO:0001819	synonymous_variant	3785			AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.919C>T	chr20.hg19:g.62070959G>A			O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Silent	SNP	ENST00000359125.2	hg19	CCDS13520.1																																																																																				0.637	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080353.1	NM_172109		A	62070959	G	A	62070959	2	1	669	1	0	0	0	0	0	0	0	1	8085	962	34	2		2	KCNQ2	20	62070959	Silent	SNP	G	TCGA-HE-7128-01A-11D-1961-08		62070959	954561	38	36704											
L3MBTL2	83746	hgsc.bcm.edu	37	22	41621916	41621916	+	Missense_Mutation	SNP	A	A	G			TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chr22:41621916A>G	ENST00000216237.5	+	12	1633	c.1475A>G	c.(1474-1476)aAg>aGg	p.K492R		NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	492					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						TTCTGTCAGAAGAATGACATT	0.592																																																0													94	69	78					22																	41621916		2203	4300	6503	SO:0001583	missense	83746			AJ305226	CCDS14011.1	22q13.31-q13.33	2008-06-11			ENSG00000100395	ENSG00000100395			18594	protein-coding gene	gene with protein product		611865				11682070	Standard	NM_031488		Approved	H-l(3)mbt-l, DKFZP761I141, dJ756G23.3	uc003azo.3	Q969R5	OTTHUMG00000150942	ENST00000216237.5:c.1475A>G	chr22.hg19:g.41621916A>G	ENSP00000216237:p.Lys492Arg		Q8TEN1|Q96SC4|Q9BQI2|Q9UGS4	Missense_Mutation	SNP	ENST00000216237.5	hg19	CCDS14011.1	.	.	.	.	.	.	.	.	.	.	A	11.68	1.711335	0.30322	.	.	ENSG00000100395	ENST00000216237	T	0.31769	1.48	5.23	4.17	0.49024	.	0.233465	0.50627	D	0.000106	T	0.27663	0.0680	L	0.54965	1.715	0.35928	D	0.832306	B;B	0.14438	0.004;0.01	B;B	0.21151	0.003;0.033	T	0.19484	-1.0304	10	0.46703	T	0.11	.	7.1971	0.25860	0.7961:0.0:0.0731:0.1308	.	492;492	Q969R5-3;Q969R5	.;LMBL2_HUMAN	R	492	ENSP00000216237:K492R	ENSP00000216237:K492R	K	+	2	0	L3MBTL2	39951862	1.000000	0.71417	0.987000	0.45799	0.906000	0.53458	2.599000	0.46231	0.792000	0.33850	0.459000	0.35465	AAG		0.592	L3MBTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320613.1	NM_031488		G	41621916	A	G	41621916	3	3	669	1	0	0	0	0	1	0	0	0	8594	72	3	3	1521	3	L3MBTL2	22	41621916	Missense_Mutation	SNP	A	TCGA-HE-7128-01A-11D-1961-08		41621916	9682650	39	36705											
DMD	1756	hgsc.bcm.edu	37	X	31152282	31152282	+	Missense_Mutation	SNP	C	C	G			TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chrX:31152282C>G	ENST00000357033.4	-	77	11157	c.10951G>C	c.(10951-10953)Gac>Cac	p.D3651H	DMD_ENST00000474231.1_Missense_Mutation_p.D1191H|DMD_ENST00000378707.3_Missense_Mutation_p.D1191H|DMD_ENST00000359836.1_Missense_Mutation_p.D1178H|DMD_ENST00000378723.3_Missense_Mutation_p.D583H|DMD_ENST00000361471.4_Missense_Mutation_p.D570H|DMD_ENST00000378702.4_Missense_Mutation_p.D583H|DMD_ENST00000378677.2_Missense_Mutation_p.D3647H|DMD_ENST00000378680.2_Missense_Mutation_p.D473H|DMD_ENST00000343523.2_Missense_Mutation_p.D1081H|DMD_ENST00000541735.1_Missense_Mutation_p.D1081H	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	3651					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)				GTGCTTGTGTCCTGGGGAGGA	0.408																																																0													189	119	143					X																	31152282		2202	4300	6502	SO:0001583	missense	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.10951G>C	chrX.hg19:g.31152282C>G	ENSP00000354923:p.Asp3651His		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	hg19	CCDS14233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.4|21.4	4.136863|4.136863	0.77662|0.77662	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378723;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000378702;ENST00000474231;ENST00000361471;ENST00000378680|ENST00000465285	T;T;T;T;T;T;T;T;T;T;T;T|.	0.65178|.	2.06;3.8;-0.14;-0.14;3.72;3.74;3.68;3.48;2.04;3.74;2.08;2.1|.	5.04|5.04	5.04|5.04	0.67666|0.67666	.|.	0.000000|.	0.36740|.	U|.	0.002431|.	T|T	0.73992|0.73992	0.3658|0.3658	M|M	0.68317|0.68317	2.08|2.08	0.45621|0.45621	D|D	0.998554|0.998554	D;D;D;D;D;D;B;B;B;D;D;P;P;B;B;B|.	0.89917|.	0.996;0.996;0.999;0.999;0.999;0.996;0.098;0.059;0.059;0.999;1.0;0.86;0.729;0.003;0.001;0.38|.	D;D;D;D;D;D;B;B;B;D;D;P;P;B;B;B|.	0.83275|.	0.926;0.955;0.974;0.995;0.945;0.926;0.077;0.035;0.052;0.99;0.996;0.661;0.526;0.003;0.005;0.326|.	T|T	0.73379|0.73379	-0.4001|-0.4001	10|5	0.52906|.	T|.	0.07|.	.|.	17.7643|17.7643	0.88473|0.88473	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	473;3643;3651;3647;2310;2307;1178;1191;1191;1081;1081;3528;570;583;570;583|.	B4DSV7;P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3;F5GZT3;P11532-5;Q8N754;Q6NSJ9;E9PDN1|.	.;.;DMD_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.|.	H|A	3643;2310;2307;583;1334;3647;3651;1178;1081;3651;3528;1191;1081;583;1191;570;473|1379	ENSP00000367997:D583H;ENSP00000350765:D1334H;ENSP00000367948:D3647H;ENSP00000354923:D3651H;ENSP00000352894:D1178H;ENSP00000340057:D1081H;ENSP00000367979:D1191H;ENSP00000444119:D1081H;ENSP00000367974:D583H;ENSP00000417123:D1191H;ENSP00000354464:D570H;ENSP00000367951:D473H|.	ENSP00000340057:D1081H|.	D|G	-|-	1|2	0|0	DMD|DMD	31062203|31062203	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.966000|0.966000	0.64601|0.64601	6.271000|6.271000	0.72569|0.72569	2.470000|2.470000	0.83445|0.83445	0.600000|0.600000	0.82982|0.82982	GAC|GGA		0.408	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		G	31152282	C	G	31152282	3	3	669	1	0	0	0	0	1	0	0	0	4582	855	30	4	204	4	DMD	23	31152282	Missense_Mutation	SNP	C	TCGA-HE-7128-01A-11D-1961-08		31152282	124118278	40	36706											
PRDM2	7799	hgsc.bcm.edu	37	1	14068533	14068533	+	Missense_Mutation	SNP	G	G	T			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr1:14068533G>T	ENST00000235372.7	+	5	1121	c.265G>T	c.(265-267)Gat>Tat	p.D89Y	PRDM2_ENST00000502727.1_3'UTR|PRDM2_ENST00000311066.5_Missense_Mutation_p.D89Y|PRDM2_ENST00000376048.5_Missense_Mutation_p.D89Y	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	89	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)|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)		GATGTGCATTGATGCCACTGA	0.383																																																0													78	72	74					1																	14068533		2203	4300	6503	SO:0001583	missense	7799			U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"Chromatin-modifying enzymes / K-methyltransferases"	9347	protein-coding gene	gene with protein product	"retinoblastoma protein-binding zinc finger protein", "retinoblastoma protein-interacting zinc finger protein", "MTE-binding protein", "zinc-finger DNA-binding protein", "GATA-3 binding protein G3B"	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.265G>T	chr1.hg19:g.14068533G>T	ENSP00000235372:p.Asp89Tyr		B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	hg19	CCDS150.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.160930	0.57368	.	.	ENSG00000116731	ENST00000484063;ENST00000376048;ENST00000235372;ENST00000311066;ENST00000400800	D;D;D;D	0.94330	-3.4;-3.4;-3.4;-3.4	5.95	5.95	0.96441	SET domain (2);	0.000000	0.85682	D	0.000000	D	0.97826	0.9286	H	0.94620	3.56	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	10	0.87932	D	0	.	18.957	0.92662	0.0:0.0:1.0:0.0	.	89;89;89	Q13029;Q13029-2;B1AJZ4	PRDM2_HUMAN;.;.	Y	80;89;89;89;89	ENSP00000423010:D80Y;ENSP00000365216:D89Y;ENSP00000235372:D89Y;ENSP00000312352:D89Y	ENSP00000235372:D89Y	D	+	1	0	PRDM2	13941120	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.957000	0.93082	2.824000	0.97209	0.655000	0.94253	GAT		0.383	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		T	14068533	G	T	14068533	3	4	670	1	0	0	0	0	1	0	0	0	12463	1290	45	4	279	4	PRDM2	1	14068533	Missense_Mutation	SNP	G	TCGA-HE-7129-01A-11D-1961-08		14068533	235182088	1	36707											
CAPN13	92291	hgsc.bcm.edu	37	2	30966306	30966306	+	Missense_Mutation	SNP	C	C	A	rs372490936	byFrequency	TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr2:30966306C>A	ENST00000295055.8	-	13	1564	c.1388G>T	c.(1387-1389)cGg>cTg	p.R463L	CAPN13_ENST00000534090.2_Missense_Mutation_p.R463L	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	463					proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TGATTTTCTCCGTGTCTGTGC	0.438																																																0													256	247	250					2																	30966306		1893	4135	6028	SO:0001583	missense	92291				CCDS46252.1	2p22-p21	2008-02-05			ENSG00000162949	ENSG00000162949			16663	protein-coding gene	gene with protein product		610228				11675017	Standard	NM_144575		Approved	FLJ23523	uc021vfm.1	Q6MZZ7	OTTHUMG00000152053	ENST00000295055.8:c.1388G>T	chr2.hg19:g.30966306C>A	ENSP00000295055:p.Arg463Leu		Q17RF0|Q580X1|Q8TE80	Missense_Mutation	SNP	ENST00000295055.8	hg19	CCDS46252.1	.	.	.	.	.	.	.	.	.	.	C	9.805	1.181471	0.21787	.	.	ENSG00000162949	ENST00000295055;ENST00000534090	D;D	0.88741	-2.42;-2.42	5.52	-11.0	0.00169	Peptidase C2, calpain, large subunit, domain III (2);	30.332300	0.00166	N	0.000005	T	0.76730	0.4028	N	0.08118	0	0.09310	N	1	B;B	0.33448	0.412;0.412	B;B	0.36030	0.216;0.216	T	0.69855	-0.5032	10	0.38643	T	0.18	.	11.994	0.53191	0.0:0.0951:0.2979:0.607	.	463;463	A8K2N3;Q6MZZ7	.;CAN13_HUMAN	L	463	ENSP00000295055:R463L;ENSP00000431298:R463L	ENSP00000295055:R463L	R	-	2	0	CAPN13	30819810	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.578000	0.02125	-2.242000	0.00708	-1.069000	0.02264	CGG		0.438	CAPN13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325101.2	NM_144575		A	30966306	C	A	30966306	3	1	670	1	0	0	0	0	1	0	0	0	2628	652	23	4	661	4	CAPN13	2	30966306	Missense_Mutation	SNP	C	TCGA-HE-7129-01A-11D-1961-08		30966306	212233067	2	36708											
SFRS7	6432	hgsc.bcm.edu	37	2	38978383	38978384	+	Missense_Mutation	DNP	GC	GC	AA			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr2:38978383_38978384GC>AA	ENST00000313117.6	-	1	252_253	c.15_16GC>TT	c.(13-18)ggGCgg>ggTTgg	p.R6W	GEMIN6_ENST00000409011.1_5'Flank|SRSF7_ENST00000409276.1_Missense_Mutation_p.R6W|SRSF7_ENST00000446327.2_Missense_Mutation_p.R6W	NM_001031684.2|NM_001195446.1	NP_001026854.1|NP_001182375.1	Q16629	SRSF7_HUMAN	serine/arginine-rich splicing factor 7	6					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)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CCTCCGTACCGCCCGTAACGCG	0.624																																																0																																										SO:0001583	missense	6432			L41887	CCDS33183.1, CCDS56115.1	2p22.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000115875	ENSG00000115875		"Zinc fingers, CCHC domain containing", "Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10789	protein-coding gene	gene with protein product	"SR splicing factor 7"	600572	"splicing factor, arginine/serine-rich 7 (35kD)", "splicing factor, arginine/serine-rich 7, 35kDa"	SFRS7		8013463, 20516191	Standard	NM_001031684		Approved	9G8, ZCRB2, HSSG1, AAG3, RBM37, ZCCHC20	uc002rqz.3	Q16629	OTTHUMG00000102076	ENST00000313117.6:c.15_16delinsAA	chr2.hg19:g.38978383_38978384delinsAA	ENSP00000325905:p.Arg6Trp		B4DLU6|G5E9M3|Q564D3	Missense_Mutation|Silent	SNP	ENST00000313117.6	hg19	CCDS33183.1																																																																																				0.624	SRSF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219889.2	NM_001031684		AA	38978384	GC	AA	38978383	3	1	670	1	0	0	0	0	1	0	0	0	14188	1086	38	1	732	1	SFRS7	2	38978383	Missense_Mutation	DNP	GC	TCGA-HE-7129-01A-11D-1961-08	8012077	38978383	204220990	3	36709											
C2orf55	343990	hgsc.bcm.edu	37	2	99413866	99413867	+	Frame_Shift_Del	DEL	GT	GT	-	rs201196594		TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08	GT	GT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr2:99413866_99413867delGT	ENST00000397899.2	-	8	2881_2882	c.2550_2551delAC	c.(2548-2553)gcacggfs	p.R851fs		NM_207362.2	NP_997245.2	Q6NV74	K121L_HUMAN	KIAA1211-like	851																	TTCAGGGTCCGTGCCCCAGGCT	0.619																																																0																																										SO:0001589	frameshift_variant	343990			BC068277	CCDS42720.1	2q11.2	2012-08-03	2012-08-03	2012-08-03	ENSG00000196872	ENSG00000196872			33454	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 55"	C2orf55			Standard	NM_207362		Approved	MGC42367	uc002szf.1	Q6NV74	OTTHUMG00000153171	ENST00000397899.2:c.2550_2551delAC	chr2.hg19:g.99413866_99413867delGT	ENSP00000380996:p.Arg851fs			Frame_Shift_Del	DEL	ENST00000397899.2	hg19	CCDS42720.1																																																																																				0.619	KIAA1211L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329933.1	NM_207362		-	99413867	GT	-	99413866	7	5	670	1	0	1	0	1	0	0	0	0	2178	1144	40	0	349	0	C2orf55	2	99413866	Frame_Shift_Del	DEL	GT	TCGA-HE-7129-01A-11D-1961-08	60435483	99413866	143785507	4	36710											
ANKZF1	55139	hgsc.bcm.edu	37	2	220099828	220099828	+	Missense_Mutation	SNP	G	G	T			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr2:220099828G>T	ENST00000323348.5	+	10	1659	c.1485G>T	c.(1483-1485)tgG>tgT	p.W495C	GLB1L_ENST00000497855.1_5'Flank|ANKZF1_ENST00000409849.1_Missense_Mutation_p.W285C|ANKZF1_ENST00000410034.3_Missense_Mutation_p.W495C	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	495						membrane (GO:0016020)	metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGAGCTCTGGAATGCACTGC	0.587																																																0													51	55	53					2																	220099828		2017	4171	6188	SO:0001583	missense	55139			AF364318	CCDS42821.1, CCDS63129.1	2q35	2013-01-10			ENSG00000163516	ENSG00000163516		"Zinc fingers, C2H2-type", "Ankyrin repeat domain containing"	25527	protein-coding gene	gene with protein product						12477932	Standard	NM_018089		Approved	FLJ10415, ZNF744	uc002vkg.3	Q9H8Y5	OTTHUMG00000154533	ENST00000323348.5:c.1485G>T	chr2.hg19:g.220099828G>T	ENSP00000321617:p.Trp495Cys		Q9NVZ4	Missense_Mutation	SNP	ENST00000323348.5	hg19	CCDS42821.1	.	.	.	.	.	.	.	.	.	.	G	11.67	1.709332	0.30322	.	.	ENSG00000163516	ENST00000323348;ENST00000409849;ENST00000410034	T;T;T	0.52983	0.64;0.64;0.64	5.41	4.51	0.55191	Ankyrin repeat-containing domain (2);	0.253027	0.37955	N	0.001878	T	0.43942	0.1270	M	0.65975	2.015	0.53005	D	0.999964	B	0.15141	0.012	B	0.17722	0.019	T	0.38265	-0.9669	10	0.37606	T	0.19	-6.7572	8.4061	0.32616	0.0:0.1513:0.5358:0.313	.	495	Q9H8Y5	ANKZ1_HUMAN	C	495;285;495	ENSP00000321617:W495C;ENSP00000386815:W285C;ENSP00000386337:W495C	ENSP00000321617:W495C	W	+	3	0	ANKZF1	219808072	1.000000	0.71417	0.983000	0.44433	0.353000	0.29299	1.765000	0.38481	1.473000	0.48159	0.591000	0.81541	TGG		0.587	ANKZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335790.1	NM_018089		T	220099828	G	T	220099828	3	4	670	1	0	0	0	0	1	0	0	0	693	1183	41	4	1519	4	ANKZF1	2	220099828	Missense_Mutation	SNP	G	TCGA-HE-7129-01A-11D-1961-08	120685962	220099828	23099545	5	36711											
ZBTB11	27107	hgsc.bcm.edu	37	3	101390912	101390912	+	Silent	SNP	C	C	A			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr3:101390912C>A	ENST00000312938.4	-	2	1036	c.456G>T	c.(454-456)tcG>tcT	p.S152S	ZBTB11_ENST00000461821.1_Silent_p.S152S	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	152					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.S152S(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GGTCATCTTCCGATTCATTAC	0.413																																																1	Substitution - coding silent(1)	lung(1)											170	167	168					3																	101390912		2203	4300	6503	SO:0001819	synonymous_variant	27107			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.456G>T	chr3.hg19:g.101390912C>A			Q2NKP9	Silent	SNP	ENST00000312938.4	hg19	CCDS2943.1																																																																																				0.413	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353441.2	NM_014415		A	101390912	C	A	101390912	2	1	670	1	0	0	0	0	0	0	0	1	17529	639	23	4		4	ZBTB11	3	101390912	Silent	SNP	C	TCGA-HE-7129-01A-11D-1961-08		101390912	96631518	6	36712											
KY	339855	hgsc.bcm.edu	37	3	134323200	134323200	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr3:134323200C>A	ENST00000423778.2	-	11	1268	c.1207G>T	c.(1207-1209)Gag>Tag	p.E403*	KY_ENST00000503669.1_3'UTR|KY_ENST00000508956.1_Nonsense_Mutation_p.E382*	NM_178554.4	NP_848649.3	Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	403					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						GGGTACACCTCCAACTTCATC	0.542																																																0													87	86	86					3																	134323200		2128	4244	6372	SO:0001587	stop_gained	339855			AK090526	CCDS46920.1	3q22.1	2010-11-23			ENSG00000174611	ENSG00000174611			26576	protein-coding gene	gene with protein product		605739					Standard	NM_178554		Approved	FLJ33207	uc010hty.3	Q8NBH2	OTTHUMG00000159788	ENST00000423778.2:c.1207G>T	chr3.hg19:g.134323200C>A	ENSP00000397598:p.Glu403*		B7Z1S4|Q6ZT15	Nonsense_Mutation	SNP	ENST00000423778.2	hg19	CCDS46920.1	.	.	.	.	.	.	.	.	.	.	C	36	5.846292	0.97016	.	.	ENSG00000174611	ENST00000508956;ENST00000423778;ENST00000310263	.	.	.	5.48	5.48	0.80851	.	0.368781	0.27393	N	0.019579	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-14.9747	19.3474	0.94370	0.0:1.0:0.0:0.0	.	.	.	.	X	382;403;403	.	ENSP00000309520:E403X	E	-	1	0	KY	135805890	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.042000	0.57347	2.578000	0.87016	0.561000	0.74099	GAG		0.542	KY-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357320.1	NM_178554		A	134323200	C	A	134323200	4	1	670	1	0	0	0	0	0	1	0	0	8588	864	30	4	782	4	KY	3	134323200	Nonsense_Mutation	SNP	C	TCGA-HE-7129-01A-11D-1961-08	32932288	134323200	63699230	7	36713											
PPAT	5471	hgsc.bcm.edu	37	4	57272675	57272675	+	Missense_Mutation	SNP	G	G	C			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr4:57272675G>C	ENST00000264220.2	-	3	525	c.388C>G	c.(388-390)Cga>Gga	p.R130G	PPAT_ENST00000507648.1_5'UTR	NM_002703.4	NP_002694.3	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase	130	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				'de novo' IMP biosynthetic process (GO:0006189)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|G1/S transition of mitotic cell cycle (GO:0000082)|glutamine catabolic process (GO:0006543)|kidney development (GO:0001822)|lactation (GO:0007595)|maternal process involved in female pregnancy (GO:0060135)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|protein homotetramerization (GO:0051289)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|amidophosphoribosyltransferase activity (GO:0004044)|metal ion binding (GO:0046872)			cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20	Glioma(25;0.08)|all_neural(26;0.101)				Fluorouracil(DB00544)|L-Glutamine(DB00130)|Mercaptopurine(DB01033)	TTCCTTAATCGAGCAGCATTT	0.378																																																0													142	123	129					4																	57272675		2203	4300	6503	SO:0001583	missense	5471				CCDS3505.1	4q12	2012-10-02			ENSG00000128059	ENSG00000128059	2.4.2.14		9238	protein-coding gene	gene with protein product		172450					Standard	NM_002703		Approved	GPAT, PRAT	uc003hbr.3	Q06203	OTTHUMG00000128842	ENST00000264220.2:c.388C>G	chr4.hg19:g.57272675G>C	ENSP00000264220:p.Arg130Gly			Missense_Mutation	SNP	ENST00000264220.2	hg19	CCDS3505.1	.	.	.	.	.	.	.	.	.	.	G	13.58	2.281110	0.40394	.	.	ENSG00000128059	ENST00000264220	T	0.76316	-1.01	5.62	4.77	0.60923	Glutamine amidotransferase, type II (1);Glutamine amidotransferase, class-II (1);	0.411032	0.27031	N	0.021280	T	0.72471	0.3464	L	0.35854	1.095	0.18873	N	0.999989	B	0.20368	0.044	B	0.27500	0.08	T	0.64550	-0.6381	10	0.51188	T	0.08	-1.2675	16.5121	0.84288	0.0:0.131:0.869:0.0	.	130	Q06203	PUR1_HUMAN	G	130	ENSP00000264220:R130G	ENSP00000264220:R130G	R	-	1	2	PPAT	56967432	0.694000	0.27738	0.732000	0.30844	0.986000	0.74619	5.006000	0.63978	1.352000	0.45808	0.585000	0.79938	CGA		0.378	PPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250781.2	NM_002703		C	57272675	G	C	57272675	3	2	670	1	0	0	0	0	1	0	0	0	12304	1066	37	4	1201	4	PPAT	4	57272675	Missense_Mutation	SNP	G	TCGA-HE-7129-01A-11D-1961-08		57272675	133881601	8	36714											
HNRNPAB	85007	hgsc.bcm.edu	37	5	177632984	177632984	+	IGR	SNP	G	G	A	rs201431713		TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr5:177632984G>A	ENST00000308158.5	-	0	2038				PHYKPL_ENST00000481811.1_5'Flank|HNRNPAB_ENST00000506339.1_Silent_p.L117L|HNRNPAB_ENST00000514633.1_Silent_p.L117L|HNRNPAB_ENST00000355836.5_Silent_p.L117L|HNRNPAB_ENST00000506259.1_Silent_p.L117L|HNRNPAB_ENST00000515193.1_Silent_p.L117L|HNRNPAB_ENST00000358344.3_Silent_p.L117L|HNRNPAB_ENST00000504898.1_Silent_p.L117L	NM_153373.2	NP_699204.1	Q8IUZ5	AT2L2_HUMAN	5-phosphohydroxy-L-lysine phospho-lyase							mitochondrion (GO:0005739)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)									L-Alanine(DB00160)	GGTTTATCCTGTTCAAAGATG	0.408																																																0													129	126	127					5																	177632984		2203	4300	6503	SO:0001628	intergenic_variant	3182			BC037567	CCDS4434.1	5q35.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000175309	ENSG00000175309	4.2.3.134		28249	protein-coding gene	gene with protein product	"5-phosphonooxy-L-lysine phospho-lyase"	614683	"alanine-glyoxylate aminotransferase 2-like 2"	AGXT2L2		22241472	Standard	NM_153373		Approved	MGC15875	uc003miz.3	Q8IUZ5	OTTHUMG00000130892		chr5.hg19:g.177632984G>A			A8K7P6|B3KN36|D3DWP9|Q8WYS6|Q96HW8	Silent	SNP	ENST00000308158.5	hg19	CCDS4434.1																																																																																				0.408	PHYKPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253477.1	NM_032921		A	177632984	G	A	177632984	1	1	670	0	1	0	0	0	0	0	0	0	7263	1364	48	2		2	HNRNPAB	5	177632984	IGR	SNP	G	TCGA-HE-7129-01A-11D-1961-08		177632984	3282276	9	36715											
ICK	22858	hgsc.bcm.edu	37	6	52878690	52878690	+	Missense_Mutation	SNP	G	G	C			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr6:52878690G>C	ENST00000350082.5	-	9	1268	c.922C>G	c.(922-924)Ctg>Gtg	p.L308V	ICK_ENST00000356971.3_Missense_Mutation_p.L308V	NM_014920.3	NP_055735.1	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	308					intracellular signal transduction (GO:0035556)|multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					GCCTTTTCCAGGATGCCTTTC	0.512																																																0													137	113	121					6																	52878690		2203	4300	6503	SO:0001583	missense	22858			AB023153	CCDS4949.1	6p12.3-p11.2	2008-02-05			ENSG00000112144	ENSG00000112144			21219	protein-coding gene	gene with protein product		612325				12103360	Standard	NM_014920		Approved	MRK, LCK2, KIAA0936, MGC46090	uc003pbi.2	Q9UPZ9	OTTHUMG00000014870	ENST00000350082.5:c.922C>G	chr6.hg19:g.52878690G>C	ENSP00000263043:p.Leu308Val		A7MD41|O75985|Q5THL2|Q8IYH8|Q9BX17|Q9NYX3	Missense_Mutation	SNP	ENST00000350082.5	hg19	CCDS4949.1	.	.	.	.	.	.	.	.	.	.	G	3.787	-0.044509	0.07452	.	.	ENSG00000112144	ENST00000350082;ENST00000356971	T;T	0.72282	-0.64;-0.64	6.06	5.18	0.71444	Protein kinase-like domain (1);	1.200720	0.05905	N	0.630645	T	0.33498	0.0865	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.26677	-1.0096	10	0.15499	T	0.54	5.3033	15.6578	0.77155	0.0661:0.0:0.9339:0.0	.	308	Q9UPZ9	ICK_HUMAN	V	308	ENSP00000263043:L308V;ENSP00000349458:L308V	ENSP00000263043:L308V	L	-	1	2	ICK	52986649	0.844000	0.29557	0.232000	0.24009	0.396000	0.30629	3.921000	0.56454	1.551000	0.49450	0.655000	0.94253	CTG		0.512	ICK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040952.1	NM_016513		C	52878690	G	C	52878690	3	2	670	1	0	0	0	0	1	0	0	0	7486	991	35	4	1000	4	ICK	6	52878690	Missense_Mutation	SNP	G	TCGA-HE-7129-01A-11D-1961-08		52878690	118236377	10	36716											
CCM2	83605	hgsc.bcm.edu	37	7	45112359	45112359	+	Silent	SNP	C	C	T			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr7:45112359C>T	ENST00000258781.6	+	7	929	c.780C>T	c.(778-780)acC>acT	p.T260T	CCM2_ENST00000541586.1_Silent_p.T202T|CCM2_ENST00000381112.3_Silent_p.T281T|CCM2_ENST00000461377.1_3'UTR|CCM2_ENST00000474617.1_Silent_p.T163T|CCM2_ENST00000475551.1_Silent_p.T254T|CCM2_ENST00000544363.1_Silent_p.T169T	NM_031443.3	NP_113631.1	Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2	260					blood vessel endothelial cell differentiation (GO:0060837)|cell-cell junction organization (GO:0045216)|endothelial cell development (GO:0001885)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|inner ear development (GO:0048839)|integrin-mediated signaling pathway (GO:0007229)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|stress-activated MAPK cascade (GO:0051403)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)	cytoplasm (GO:0005737)|protein complex (GO:0043234)				NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						TTAAGGAGACCTACGAGGTGG	0.507																																																0													102	87	92					7																	45112359		2203	4300	6503	SO:0001819	synonymous_variant	83605			BC004903	CCDS5500.1, CCDS34630.1, CCDS55108.1, CCDS55109.1	7p13	2014-09-17	2004-02-13	2004-02-18	ENSG00000136280	ENSG00000136280			21708	protein-coding gene	gene with protein product	"malcavernin"	607929	"chromosome 7 open reading frame 22"	C7orf22		9811928	Standard	NM_001029835		Approved	MGC4607	uc003tms.3	Q9BSQ5	OTTHUMG00000129246	ENST00000258781.6:c.780C>T	chr7.hg19:g.45112359C>T			A4D2L4|B3KUV0|D3DVL4|E9PDJ3|F5H0E1|F5H551|Q71RE5|Q8TAT4	Silent	SNP	ENST00000258781.6	hg19	CCDS5500.1	.	.	.	.	.	.	.	.	.	.	C	7.888	0.731770	0.15507	.	.	ENSG00000136280	ENST00000480382	.	.	.	5.55	-2.66	0.06077	.	.	.	.	.	T	0.41328	0.1154	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.28235	-1.0050	4	.	.	.	-0.5904	2.9764	0.05939	0.3625:0.1562:0.3533:0.128	.	.	.	.	L	127	.	.	P	+	2	0	CCM2	45078884	0.004000	0.15560	0.000000	0.03702	0.904000	0.53231	-0.395000	0.07287	-0.809000	0.04381	-0.165000	0.13383	CCT		0.507	CCM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251348.1	NM_031443		T	45112359	C	T	45112359	2	4	670	1	0	0	0	0	0	0	0	1	2910	668	24	2		2	CCM2	7	45112359	Silent	SNP	C	TCGA-HE-7129-01A-11D-1961-08		45112359	114026304	11	36717											
TBRG4	9238	hgsc.bcm.edu	37	7	45145054	45145054	+	Missense_Mutation	SNP	G	G	T			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr7:45145054G>T	ENST00000258770.3	-	3	842	c.721C>A	c.(721-723)Cgc>Agc	p.R241S	SNORA5B_ENST00000363786.1_RNA|TBRG4_ENST00000494076.1_Missense_Mutation_p.R241S|SNORA5C_ENST00000364902.1_RNA|SNORA5A_ENST00000384111.1_RNA|TBRG4_ENST00000395655.4_Missense_Mutation_p.R241S|TBRG4_ENST00000471142.1_5'Flank|TBRG4_ENST00000361278.3_Missense_Mutation_p.R241S	NM_004749.3	NP_004740.2	Q969Z0	TBRG4_HUMAN	transforming growth factor beta regulator 4	241					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						TCTTCCAGGCGGTTCATTAGT	0.557																																																0													89	88	88					7																	45145054		2203	4300	6503	SO:0001583	missense	9238			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.721C>A	chr7.hg19:g.45145054G>T	ENSP00000258770:p.Arg241Ser		A4D2L2|A4D2L3|D3DVL5|D3DVL6|O14710|Q53GI8|Q8NDM4|Q9BUC6|Q9Y2F6	Missense_Mutation	SNP	ENST00000258770.3	hg19	CCDS5501.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.095624	0.36952	.	.	ENSG00000136270	ENST00000258770;ENST00000361278;ENST00000395655;ENST00000494076;ENST00000478532;ENST00000461363	T;T;T;T;T;T	0.34859	2.95;1.98;1.98;2.95;1.34;1.34	5.75	4.87	0.63330	.	0.223036	0.46145	D	0.000310	T	0.40247	0.1109	M	0.63843	1.955	0.33015	D	0.528002	P;P;P	0.45240	0.854;0.628;0.605	P;B;B	0.45610	0.487;0.203;0.336	T	0.54529	-0.8280	10	0.28530	T	0.3	.	11.7854	0.52039	0.0815:0.0:0.9185:0.0	.	252;241;241	B4DU42;Q969Z0-2;Q969Z0	.;.;TBRG4_HUMAN	S	241;241;241;241;206;187	ENSP00000258770:R241S;ENSP00000354992:R241S;ENSP00000379016:R241S;ENSP00000420597:R241S;ENSP00000418631:R206S;ENSP00000417743:R187S	ENSP00000258770:R241S	R	-	1	0	TBRG4	45111579	1.000000	0.71417	0.988000	0.46212	0.823000	0.46562	3.043000	0.49823	1.432000	0.47375	-0.136000	0.14681	CGC		0.557	TBRG4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251351.1	NM_030900		T	45145054	G	T	45145054	3	4	670	1	0	0	0	0	1	0	0	0	15654	1116	39	4	1210	4	TBRG4	7	45145054	Missense_Mutation	SNP	G	TCGA-HE-7129-01A-11D-1961-08	32695	45145054	113993609	12	36718											
PTPN12	5782	hgsc.bcm.edu	37	7	77267951	77267951	+	Silent	SNP	G	G	T			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr7:77267951G>T	ENST00000248594.6	+	17	2456	c.2184G>T	c.(2182-2184)gcG>gcT	p.A728A	PTPN12_ENST00000435495.2_Silent_p.A598A|PTPN12_ENST00000415482.2_Silent_p.A609A	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	728					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						ATCATCCAGCGGGAGGTATTC	0.353																																																0													106	108	107					7																	77267951		2203	4300	6503	SO:0001819	synonymous_variant	5782				CCDS5592.1, CCDS47619.1, CCDS47620.1	7q11.23	2011-06-09			ENSG00000127947	ENSG00000127947		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9645	protein-coding gene	gene with protein product		600079				7509295	Standard	NM_002835		Approved	PTPG1, PTP-PEST	uc003ugh.2	Q05209	OTTHUMG00000023501	ENST00000248594.6:c.2184G>T	chr7.hg19:g.77267951G>T			A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4	Silent	SNP	ENST00000248594.6	hg19	CCDS5592.1																																																																																				0.353	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253183.3			T	77267951	G	T	77267951	2	4	670	1	0	0	0	0	0	0	0	1	12787	1103	39	4		4	PTPN12	7	77267951	Silent	SNP	G	TCGA-HE-7129-01A-11D-1961-08	32122897	77267951	81870712	13	36719											
PDK4	5166	hgsc.bcm.edu	37	7	95221864	95221872	+	In_Frame_Del	DEL	CCAATGTGG	CCAATGTGG	-	rs138077797		TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08	CCAATGTGG	CCAATGTGG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr7:95221864_95221872delCCAATGTGG	ENST00000005178.5	-	5	764_772	c.567_575delCCACATTGG	c.(565-576)agccacattgga>aga	p.189_192SHIG>R		NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase, isozyme 4	189	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				cellular metabolic process (GO:0044237)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|negative regulation of anoikis (GO:2000811)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|reactive oxygen species metabolic process (GO:0072593)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of bone resorption (GO:0045124)|regulation of cellular ketone metabolic process (GO:0010565)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose metabolic process (GO:0010906)|regulation of pH (GO:0006885)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|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)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			ATCAATGCTTCCAATGTGGCTTGGGTTTC	0.321																																																0																																										SO:0001651	inframe_deletion	5166			U54617	CCDS5643.1	7q21.3-q22.1	2008-07-18	2005-11-16		ENSG00000004799	ENSG00000004799			8812	protein-coding gene	gene with protein product		602527	"pyruvate dehydrogenase kinase, isoenzyme 4"			7499431	Standard	NM_002612		Approved		uc003uoa.3	Q16654	OTTHUMG00000153977	ENST00000005178.5:c.567_575delCCACATTGG	chr7.hg19:g.95221864_95221872delCCAATGTGG	ENSP00000005178:p.Ser189_Gly192delinsArg			In_Frame_Del	DEL	ENST00000005178.5	hg19	CCDS5643.1																																																																																				0.321	PDK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333298.1	NM_002612		-	95221872	CCAATGTGG	-	95221864	7	5	670	1	0	1	0	1	0	0	0	0	11680	855	30	0	688	0	PDK4	7	95221864	In_Frame_Del	DEL	CCAATGTGG	TCGA-HE-7129-01A-11D-1961-08	17953913	95221864	63916799	14	36720											
ZKSCAN1	7586	hgsc.bcm.edu	37	7	99621201	99621201	+	Silent	SNP	A	A	G			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr7:99621201A>G	ENST00000324306.6	+	2	306	c.72A>G	c.(70-72)gtA>gtG	p.V24V	ZKSCAN1_ENST00000426572.1_5'UTR|ZKSCAN1_ENST00000535170.1_Intron	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1	24					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)			ATGGTATCGTAATAGTGAAGG	0.542																																																0													94	83	87					7																	99621201		2203	4300	6503	SO:0001819	synonymous_variant	7586			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.72A>G	chr7.hg19:g.99621201A>G			A4D294|P52745|Q2M1U1|Q8TBW5|Q8TEK7	Silent	SNP	ENST00000324306.6	hg19	CCDS34698.1																																																																																				0.542	ZKSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344550.2	NM_003439		G	99621201	A	G	99621201	2	3	670	1	0	0	0	0	0	0	0	1	17691	349	13	3		3	ZKSCAN1	7	99621201	Silent	SNP	A	TCGA-HE-7129-01A-11D-1961-08	4399337	99621201	59517462	15	36721											
CNTNAP2	26047	hgsc.bcm.edu	37	7	147336337	147336337	+	Silent	SNP	C	C	A	rs539741829		TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr7:147336337C>A	ENST00000361727.3	+	13	2553	c.2037C>A	c.(2035-2037)gcC>gcA	p.A679A		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	679	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)			CTGACAGTGCCGAGTACTGCG	0.478										HNSCC(39;0.1)																																						0													136	109	118					7																	147336337		2203	4300	6503	SO:0001819	synonymous_variant	26047			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.2037C>A	chr7.hg19:g.147336337C>A			D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP	ENST00000361727.3	hg19	CCDS5889.1																																																																																				0.478	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			A	147336337	C	A	147336337	2	1	670	1	0	0	0	0	0	0	0	1	3649	639	23	4		4	CNTNAP2	7	147336337	Silent	SNP	C	TCGA-HE-7129-01A-11D-1961-08	47715136	147336337	11802326	16	36722											
C7orf29	113763	hgsc.bcm.edu	37	7	150027695	150027695	+	Missense_Mutation	SNP	C	C	A			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr7:150027695C>A	ENST00000343855.4	+	1	758	c.202C>A	c.(202-204)Cgc>Agc	p.R68S	LRRC61_ENST00000323078.7_Intron|LRRC61_ENST00000493307.1_Intron|LRRC61_ENST00000359623.4_Intron	NM_138434.2	NP_612443.1	Q96FA7	ZB6CL_HUMAN	ZBED6 C-terminal like	68																	GCTCTTCTACCGCGAGGAGTT	0.622																																																0													93	93	93					7																	150027695		2203	4300	6503	SO:0001583	missense	113763			BC011406	CCDS5900.1	7q35	2013-05-03	2013-05-03	2013-05-03	ENSG00000188707	ENSG00000188707			21720	protein-coding gene	gene with protein product		615252	"chromosome 7 open reading frame 29"	C7orf29		23533661	Standard	NM_138434		Approved			Q96FA7	OTTHUMG00000158328	ENST00000343855.4:c.202C>A	chr7.hg19:g.150027695C>A	ENSP00000343242:p.Arg68Ser			Missense_Mutation	SNP	ENST00000343855.4	hg19	CCDS5900.1	.	.	.	.	.	.	.	.	.	.	C	9.992	1.230972	0.22542	.	.	ENSG00000188707	ENST00000343855	.	.	.	3.75	3.75	0.43078	.	4.453540	0.01642	N	0.024125	T	0.18130	0.0435	N	0.11560	0.145	0.09310	N	0.999999	P	0.41748	0.761	B	0.38954	0.286	T	0.20042	-1.0287	9	0.06757	T	0.87	.	9.3723	0.38261	0.2139:0.7861:0.0:0.0	.	68	Q96FA7	CG029_HUMAN	S	68	.	ENSP00000343242:R68S	R	+	1	0	C7orf29	149658628	0.413000	0.25400	0.588000	0.28705	0.633000	0.38033	1.687000	0.37680	2.057000	0.61298	0.558000	0.71614	CGC		0.622	ZBED6CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350702.1	NM_138434		A	150027695	C	A	150027695	3	1	670	1	0	0	0	0	1	0	0	0	2387	652	23	4	204	4	C7orf29	7	150027695	Missense_Mutation	SNP	C	TCGA-HE-7129-01A-11D-1961-08	2691358	150027695	9110968	17	36723											
ASB10	136371	hgsc.bcm.edu	37	7	150878302	150878302	+	Silent	SNP	C	C	G			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr7:150878302C>G	ENST00000420175.2	-	3	852	c.828G>C	c.(826-828)ctG>ctC	p.L276L	ASB10_ENST00000422024.1_Silent_p.L321L|ASB10_ENST00000377867.3_Silent_p.L261L|ASB10_ENST00000275838.1_Silent_p.L276L|ASB10_ENST00000434669.1_Silent_p.L321L			Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	276					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)		GCAAGCTGCACAGCTGCAGGC	0.682																																																0													29	31	30					7																	150878302		2202	4297	6499	SO:0001819	synonymous_variant	136371			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.828G>C	chr7.hg19:g.150878302C>G			A0AVH0|Q6ZUL6	Silent	SNP	ENST00000420175.2	hg19	CCDS47750.2																																																																																				0.682	ASB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347096.3	NM_080871		G	150878302	C	G	150878302	2	3	670	1	0	0	0	0	0	0	0	1	1014	465	17	4		4	ASB10	7	150878302	Silent	SNP	C	TCGA-HE-7129-01A-11D-1961-08	850607	150878302	8260361	18	36724											
ST18	9705	hgsc.bcm.edu	37	8	53077711	53077711	+	Missense_Mutation	SNP	G	G	T			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr8:53077711G>T	ENST00000276480.7	-	12	1962	c.1279C>A	c.(1279-1281)Cgc>Agc	p.R427S		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	427					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)				TGGGTGTTGCGGTTGCTGTTC	0.413																																																0													202	192	195					8																	53077711		2203	4300	6503	SO:0001583	missense	9705			AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"Zinc fingers, C2HC-type containing"	18695	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 3"		"zinc finger protein 387", "suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.1279C>A	chr8.hg19:g.53077711G>T	ENSP00000276480:p.Arg427Ser		Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	hg19	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	G	33	5.273288	0.95429	.	.	ENSG00000147488	ENST00000276480;ENST00000517580	T;T	0.63096	-0.02;0.6	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.79458	0.4449	M	0.68593	2.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.78344	-0.2240	10	0.54805	T	0.06	-19.9477	20.3081	0.98638	0.0:0.0:1.0:0.0	.	427;427	E5RHS3;O60284	.;ST18_HUMAN	S	427	ENSP00000276480:R427S;ENSP00000428521:R427S	ENSP00000276480:R427S	R	-	1	0	ST18	53240264	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.832000	0.86757	2.795000	0.96236	0.655000	0.94253	CGC		0.413	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			T	53077711	G	T	53077711	3	4	670	1	0	0	0	0	1	0	0	0	15217	1116	39	4	1924	4	ST18	8	53077711	Missense_Mutation	SNP	G	TCGA-HE-7129-01A-11D-1961-08		53077711	93286311	19	36725											
WISP1	8840	hgsc.bcm.edu	37	8	134225321	134225321	+	Missense_Mutation	SNP	C	C	T			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr8:134225321C>T	ENST00000250160.6	+	2	390	c.284C>T	c.(283-285)cCc>cTc	p.P95L	WISP1_ENST00000377863.2_Intron|WISP1_ENST00000519433.1_Intron|WISP1_ENST00000220856.6_Missense_Mutation_p.P95L|WISP1_ENST00000517423.1_Missense_Mutation_p.P95L	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	95	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)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			ATCTGTGACCCCCACCGGGGC	0.612																																																0													57	59	58					8																	134225321		2203	4300	6503	SO:0001583	missense	8840			AF100779	CCDS6371.1, CCDS6372.1, CCDS56555.1, CCDS56556.1	8q24.22	2007-05-14			ENSG00000104415	ENSG00000104415			12769	protein-coding gene	gene with protein product		603398				9843955	Standard	NM_003882		Approved	CCN4	uc003yub.3	O95388	OTTHUMG00000164440	ENST00000250160.6:c.284C>T	chr8.hg19:g.134225321C>T	ENSP00000250160:p.Pro95Leu		A8KAG6|E7EMM5|Q5JBS6|Q5JBS7|Q5JBS8|Q9HCS3	Missense_Mutation	SNP	ENST00000250160.6	hg19	CCDS6371.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.895808	0.52121	.	.	ENSG00000104415	ENST00000250160;ENST00000517423;ENST00000220856	T;T;T	0.64618	-0.11;-0.11;-0.11	5.27	4.33	0.51752	Insulin-like growth factor-binding protein, IGFBP (3);	0.467062	0.24962	N	0.034202	T	0.57961	0.2089	M	0.63843	1.955	0.80722	D	1	P;P;B	0.45176	0.852;0.458;0.27	B;B;B	0.42462	0.388;0.137;0.089	T	0.62315	-0.6880	10	0.56958	D	0.05	-27.7812	7.9781	0.30166	0.0:0.7412:0.1659:0.0928	.	95;95;95	E7EMM5;O95388-2;O95388	.;.;WISP1_HUMAN	L	95	ENSP00000250160:P95L;ENSP00000427744:P95L;ENSP00000220856:P95L	ENSP00000220856:P95L	P	+	2	0	WISP1	134294503	0.959000	0.32827	1.000000	0.80357	0.965000	0.64279	1.247000	0.32815	2.460000	0.83146	0.542000	0.68232	CCC		0.612	WISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378794.2	NM_003882		T	134225321	C	T	134225321	3	4	670	1	0	0	0	0	1	0	0	0	17377	623	22	2	290	2	WISP1	8	134225321	Missense_Mutation	SNP	C	TCGA-HE-7129-01A-11D-1961-08	81147610	134225321	12138701	20	36726											
SLC35D2	11046	hgsc.bcm.edu	37	9	99106263	99106263	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr9:99106263C>A	ENST00000253270.7	-	8	669	c.607G>T	c.(607-609)Gga>Tga	p.G203*	SLC35D2_ENST00000375259.4_Intron	NM_007001.2	NP_008932.2	Q76EJ3	S35D2_HUMAN	solute carrier family 35 (UDP-GlcNAc/UDP-glucose transporter), member D2	203					carbohydrate derivative transport (GO:1901264)|carbohydrate metabolic process (GO:0005975)|carbohydrate transport (GO:0008643)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|nucleotide transmembrane transport (GO:1901679)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	nucleotide-sugar transmembrane transporter activity (GO:0005338)	p.G203R(1)		endometrium(3)|large_intestine(3)|lung(4)|skin(2)	12		Acute lymphoblastic leukemia(62;0.0167)				AAAAGTACTCCGTATTTCCCT	0.403																																																1	Substitution - Missense(1)	large_intestine(1)											121	128	126					9																	99106263		2203	4300	6503	SO:0001587	stop_gained	11046			AB122077	CCDS6717.1, CCDS69625.1	9q22.33	2013-07-17	2013-07-17		ENSG00000130958	ENSG00000130958		"Solute carriers"	20799	protein-coding gene	gene with protein product		609182	"solute carrier family 35, member D2"			15607426	Standard	NM_007001		Approved	UGTrel8, SQV7L	uc004awc.3	Q76EJ3	OTTHUMG00000020293	ENST00000253270.7:c.607G>T	chr9.hg19:g.99106263C>A	ENSP00000253270:p.Gly203*		O95454|Q498C1|Q75W21|Q7Z5X5	Nonsense_Mutation	SNP	ENST00000253270.7	hg19	CCDS6717.1	.	.	.	.	.	.	.	.	.	.	C	36	5.661516	0.96734	.	.	ENSG00000130958	ENST00000253270	.	.	.	4.94	4.94	0.65067	.	0.055372	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	17.4527	0.87596	0.0:1.0:0.0:0.0	.	.	.	.	X	203	.	ENSP00000253270:G203X	G	-	1	0	SLC35D2	98146084	1.000000	0.71417	0.954000	0.39281	0.868000	0.49771	6.190000	0.72057	2.734000	0.93682	0.650000	0.86243	GGA		0.403	SLC35D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053261.1			A	99106263	C	A	99106263	4	1	670	1	0	0	0	0	0	1	0	0	14588	661	23	4	426	4	SLC35D2	9	99106263	Nonsense_Mutation	SNP	C	TCGA-HE-7129-01A-11D-1961-08		99106263	42107168	21	36727											
COL27A1	85301	hgsc.bcm.edu	37	9	117047026	117047026	+	Missense_Mutation	SNP	C	C	G			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr9:117047026C>G	ENST00000356083.3	+	41	4347	c.3956C>G	c.(3955-3957)cCc>cGc	p.P1319R		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1319	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						ATTGTGGGACCCCTTGGACCT	0.557																																																0													142	119	127					9																	117047026		2203	4300	6503	SO:0001583	missense	85301			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.3956C>G	chr9.hg19:g.117047026C>G	ENSP00000348385:p.Pro1319Arg		Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	hg19	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	c	12.60	1.986411	0.35036	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	D	0.93366	-3.21	4.71	3.82	0.43975	.	.	.	.	.	D	0.93779	0.8011	L	0.55017	1.72	0.38600	D	0.950644	P	0.52577	0.954	P	0.60012	0.867	D	0.91884	0.5518	9	0.22706	T	0.39	.	10.6899	0.45864	0.0:0.9065:0.0:0.0935	.	1319	Q8IZC6	CORA1_HUMAN	R	1319	ENSP00000348385:P1319R	ENSP00000348385:P1319R	P	+	2	0	COL27A1	116086847	1.000000	0.71417	1.000000	0.80357	0.672000	0.39443	5.396000	0.66297	1.205000	0.43262	-0.265000	0.10407	CCC		0.557	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		G	117047026	C	G	117047026	3	3	670	1	0	0	0	0	1	0	0	0	3687	623	22	4	4118	4	COL27A1	9	117047026	Missense_Mutation	SNP	C	TCGA-HE-7129-01A-11D-1961-08	17940763	117047026	24166405	22	36728											
AP3M1	26985	hgsc.bcm.edu	37	10	75898090	75898090	+	Silent	SNP	T	T	C	rs147488745		TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr10:75898090T>C	ENST00000355264.4	-	2	359	c.48A>G	c.(46-48)ctA>ctG	p.L16L	AP3M1_ENST00000487653.1_5'UTR|AP3M1_ENST00000372745.1_Silent_p.L16L	NM_012095.4	NP_036227.1	Q9Y2T2	AP3M1_HUMAN	adaptor-related protein complex 3, mu 1 subunit	16					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)					AGTGCTTCTCTAGAAATATGT	0.358																																																0													76	76	76					10																	75898090		2203	4300	6503	SO:0001819	synonymous_variant	26985			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.48A>G	chr10.hg19:g.75898090T>C			Q5JQ12|Q9H5L2	Silent	SNP	ENST00000355264.4	hg19	CCDS7342.1																																																																																				0.358	AP3M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048747.1			C	75898090	T	C	75898090	2	2	670	1	0	0	0	0	0	0	0	1	747	1509	53	3		3	AP3M1	10	75898090	Silent	SNP	T	TCGA-HE-7129-01A-11D-1961-08		75898090	59636657	23	36729											
PDE6C	5146	hgsc.bcm.edu	37	10	95380726	95380726	+	Silent	SNP	C	C	A			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr10:95380726C>A	ENST00000371447.3	+	3	850	c.712C>A	c.(712-714)Cga>Aga	p.R238R		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	238					phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)			Caffeine(DB00201)	TATTGAATCCCGAAGAAGCCA	0.443																																																0													261	255	257					10																	95380726		2203	4300	6503	SO:0001819	synonymous_variant	5146			U31973	CCDS7429.1	10q24	2013-01-23			ENSG00000095464	ENSG00000095464	3.1.4.17	"Phosphodiesterases"	8787	protein-coding gene	gene with protein product		600827					Standard	NM_006204		Approved	PDEA2, ACHM5, COD4	uc001kiu.4	P51160	OTTHUMG00000018775	ENST00000371447.3:c.712C>A	chr10.hg19:g.95380726C>A			A6NCR6|Q5VY29	Silent	SNP	ENST00000371447.3	hg19	CCDS7429.1																																																																																				0.443	PDE6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049437.1	NM_006204		A	95380726	C	A	95380726	2	1	670	1	0	0	0	0	0	0	0	1	11649	644	23	4		4	PDE6C	10	95380726	Silent	SNP	C	TCGA-HE-7129-01A-11D-1961-08	19482636	95380726	40154021	24	36730											
OR8I2	120586	hgsc.bcm.edu	37	11	55861472	55861472	+	Missense_Mutation	SNP	C	C	G			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr11:55861472C>G	ENST00000302124.2	+	1	720	c.689C>G	c.(688-690)gCa>gGa	p.A230G		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, 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)	p.A230E(1)		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)					ATCCAGTCAGCAGCAGGCAGG	0.468																																																1	Substitution - Missense(1)	lung(1)											148	133	138					11																	55861472		2201	4296	6497	SO:0001583	missense	120586			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.689C>G	chr11.hg19:g.55861472C>G	ENSP00000303864:p.Ala230Gly		B2RNN4|Q6IFC0|Q96RC5	Missense_Mutation	SNP	ENST00000302124.2	hg19	CCDS31517.1	.	.	.	.	.	.	.	.	.	.	C	7.367	0.625989	0.14257	.	.	ENSG00000172154	ENST00000302124	T	0.00207	8.55	4.33	3.41	0.39046	GPCR, rhodopsin-like superfamily (1);	0.410674	0.17770	U	0.162617	T	0.00241	0.0007	L	0.60904	1.88	0.09310	N	1	B	0.19935	0.04	B	0.25614	0.062	T	0.31613	-0.9937	10	0.62326	D	0.03	-0.4958	11.6945	0.51536	0.0:0.9111:0.0:0.0889	.	230	Q8N0Y5	OR8I2_HUMAN	G	230	ENSP00000303864:A230G	ENSP00000303864:A230G	A	+	2	0	OR8I2	55618048	0.000000	0.05858	0.014000	0.15608	0.555000	0.35460	0.408000	0.21065	0.934000	0.37316	0.440000	0.28878	GCA		0.468	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001003750		G	55861472	C	G	55861472	3	3	670	1	0	0	0	0	1	0	0	0	11242	710	25	4	691	4	OR8I2	11	55861472	Missense_Mutation	SNP	C	TCGA-HE-7129-01A-11D-1961-08		55861472	79145044	25	36731											
DSCAML1	57453	hgsc.bcm.edu	37	11	117375681	117375681	+	Missense_Mutation	SNP	C	C	T			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr11:117375681C>T	ENST00000321322.6	-	10	2321	c.2320G>A	c.(2320-2322)Gac>Aac	p.D774N	DSCAML1_ENST00000527706.1_Missense_Mutation_p.D504N	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	714	Ig-like C2-type 8.				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)		GGGTAGCCGTCCACCGAGCAG	0.602																																																0													88	77	81					11																	117375681		2201	4296	6497	SO:0001583	missense	57453				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.2320G>A	chr11.hg19:g.117375681C>T	ENSP00000315465:p.Asp774Asn		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	hg19	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	C	19.37	3.813851	0.70912	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.66995	-0.24;-0.24	4.32	4.32	0.51571	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.54727	0.1876	N	0.21097	0.63	0.58432	D	0.999999	B	0.18013	0.025	B	0.21360	0.034	T	0.52358	-0.8586	9	0.38643	T	0.18	.	16.5931	0.84781	0.0:1.0:0.0:0.0	.	714	Q8TD84	DSCL1_HUMAN	N	504;774;481	ENSP00000434335:D504N;ENSP00000315465:D774N	ENSP00000315465:D774N	D	-	1	0	DSCAML1	116880891	1.000000	0.71417	0.939000	0.37840	0.852000	0.48524	7.559000	0.82265	2.222000	0.72286	0.313000	0.20887	GAC		0.602	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		T	117375681	C	T	117375681	3	4	670	1	0	0	0	0	1	0	0	0	4771	855	30	2	4117	2	DSCAML1	11	117375681	Missense_Mutation	SNP	C	TCGA-HE-7129-01A-11D-1961-08	61514209	117375681	17630835	26	36732											
LIMA1	51474	hgsc.bcm.edu	37	12	50571511	50571511	+	Missense_Mutation	SNP	C	C	G			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr12:50571511C>G	ENST00000341247.4	-	11	1765	c.1616G>C	c.(1615-1617)gGa>gCa	p.G539A	LIMA1_ENST00000552823.1_Missense_Mutation_p.G379A|LIMA1_ENST00000394943.3_Missense_Mutation_p.G540A|LIMA1_ENST00000552783.1_Missense_Mutation_p.G380A|LIMA1_ENST00000552909.1_Missense_Mutation_p.G378A|LIMA1_ENST00000547825.1_Missense_Mutation_p.G237A|LIMA1_ENST00000552491.1_Missense_Mutation_p.G236A	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	539					actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						TCCTGAACTTCCAAGTTCAGT	0.532																																																0													113	118	116					12																	50571511		2203	4300	6503	SO:0001583	missense	51474			AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405			24636	protein-coding gene	gene with protein product	"epithelial protein lost in neoplasm beta"	608364				10806352, 10618726, 12566430	Standard	NM_016357		Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000341247.4:c.1616G>C	chr12.hg19:g.50571511C>G	ENSP00000340184:p.Gly539Ala		B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Missense_Mutation	SNP	ENST00000341247.4	hg19	CCDS8802.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.467708	0.63625	.	.	ENSG00000050405	ENST00000552491;ENST00000547825;ENST00000552823;ENST00000394943;ENST00000341247;ENST00000552783;ENST00000552909;ENST00000420992	T;T;T;D;T;T;T	0.84800	-1.15;-1.15;-1.49;-1.9;-1.16;-1.49;-1.49	5.73	4.83	0.62350	.	0.635701	0.18245	N	0.147130	D	0.82779	0.5111	L	0.44542	1.39	0.30474	N	0.773064	B;B;P	0.38129	0.072;0.293;0.619	B;B;B	0.39339	0.067;0.078;0.297	T	0.81895	-0.0723	10	0.49607	T	0.09	.	17.0525	0.86523	0.0:0.8729:0.1271:0.0	.	549;539;378	Q59FE8;Q9UHB6;F8VQE1	.;LIMA1_HUMAN;.	A	236;237;379;540;539;380;378;458	ENSP00000448463:G236A;ENSP00000448706:G237A;ENSP00000450266:G379A;ENSP00000378400:G540A;ENSP00000340184:G539A;ENSP00000448779:G380A;ENSP00000450087:G378A	ENSP00000340184:G539A	G	-	2	0	LIMA1	48857778	0.928000	0.31464	0.969000	0.41365	0.973000	0.67179	4.892000	0.63193	1.530000	0.49136	0.655000	0.94253	GGA		0.532	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406235.2	NM_016357		G	50571511	C	G	50571511	3	3	670	1	0	0	0	0	1	0	0	0	8798	855	30	4	667	4	LIMA1	12	50571511	Missense_Mutation	SNP	C	TCGA-HE-7129-01A-11D-1961-08		50571511	83280384	27	36733											
LAMP1	3916	hgsc.bcm.edu	37	13	113964011	113964011	+	Silent	SNP	C	C	T			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr13:113964011C>T	ENST00000332556.4	+	3	431	c.237C>T	c.(235-237)tcC>tcT	p.S79S	LAMP1_ENST00000397181.3_Silent_p.S79S	NM_005561.3	NP_005552.3	P11279	LAMP1_HUMAN	lysosomal-associated membrane protein 1	79	First lumenal domain.				autophagic cell death (GO:0048102)|autophagy (GO:0006914)|establishment of protein localization to organelle (GO:0072594)|Golgi to lysosome transport (GO:0090160)|granzyme-mediated apoptotic signaling pathway (GO:0008626)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|protein stabilization (GO:0050821)|regulation of organelle transport along microtubule (GO:1902513)	alveolar lamellar body (GO:0097208)|cytolytic granule (GO:0044194)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|phagolysosome membrane (GO:0061474)|sarcolemma (GO:0042383)	enzyme binding (GO:0019899)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2)	16	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;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			ACCGCAGCTCCTGTGGAAAAG	0.448																																																0													110	114	113					13																	113964011		1968	4157	6125	SO:0001819	synonymous_variant	3916			J03263	CCDS41909.1	13q34	2011-11-24			ENSG00000185896	ENSG00000185896		"CD molecules"	6499	protein-coding gene	gene with protein product		153330					Standard	NM_005561		Approved	CD107a	uc001vtm.1	P11279	OTTHUMG00000017380	ENST00000332556.4:c.237C>T	chr13.hg19:g.113964011C>T			B4DWL3|Q8WU33|Q96I40|Q9BRD2|Q9NP13	Silent	SNP	ENST00000332556.4	hg19	CCDS41909.1																																																																																				0.448	LAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045876.2			T	113964011	C	T	113964011	2	4	670	1	0	0	0	0	0	0	0	1	8619	668	24	2		2	LAMP1	13	113964011	Silent	SNP	C	TCGA-HE-7129-01A-11D-1961-08		113964011	1205867	28	36734											
BAZ1A	11177	hgsc.bcm.edu	37	14	35242930	35242930	+	Silent	SNP	A	A	G			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr14:35242930A>G	ENST00000382422.2	-	19	3327	c.3000T>C	c.(2998-3000)gtT>gtC	p.V1000V	BAZ1A_ENST00000358716.4_Silent_p.V968V|BAZ1A_ENST00000360310.1_Silent_p.V1000V			Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	1000					chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	ACF complex (GO:0016590)|CHRAC (GO:0008623)|nuclear chromosome (GO:0000228)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		GTCGATCTGTAACCTGTAACA	0.323																																																0													87	78	81					14																	35242930		2203	4300	6503	SO:0001819	synonymous_variant	11177			AB032252	CCDS9651.1, CCDS41943.1	14q13.2	2013-01-28			ENSG00000198604	ENSG00000198604		"Zinc fingers, PHD-type"	960	protein-coding gene	gene with protein product		605680				10662543	Standard	NM_013448		Approved	hACF1, ACF1, WALp1, WCRF180	uc001wsk.3	Q9NRL2	OTTHUMG00000140216	ENST00000382422.2:c.3000T>C	chr14.hg19:g.35242930A>G			Q9NZ15|Q9P065|Q9UIG1|Q9Y3V3	Silent	SNP	ENST00000382422.2	hg19	CCDS9651.1																																																																																				0.323	BAZ1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276646.1			G	35242930	A	G	35242930	2	3	670	1	0	0	0	0	0	0	0	1	1329	349	13	3		3	BAZ1A	14	35242930	Silent	SNP	A	TCGA-HE-7129-01A-11D-1961-08		35242930	72106610	29	36735											
FANCM	57697	hgsc.bcm.edu	37	14	45636324	45636324	+	Silent	SNP	C	C	A	rs112784867	byFrequency	TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr14:45636324C>A	ENST00000267430.5	+	11	2045	c.1960C>A	c.(1960-1962)Cgg>Agg	p.R654R	FANCM_ENST00000556036.1_Silent_p.R654R|FANCM_ENST00000542564.2_Silent_p.R628R	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	654					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						GAAGCCTTCTCGGAACTTGCA	0.393								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																							0													98	102	101					14																	45636324		2203	4300	6503	SO:0001819	synonymous_variant	57697	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	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.1960C>A	chr14.hg19:g.45636324C>A			B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Silent	SNP	ENST00000267430.5	hg19	CCDS32070.1																																																																																				0.393	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		A	45636324	C	A	45636324	2	1	670	1	0	0	0	0	0	0	0	1	5673	875	31	4		4	FANCM	14	45636324	Silent	SNP	C	TCGA-HE-7129-01A-11D-1961-08	10393394	45636324	61713216	30	36736											
ARID4A	5926	hgsc.bcm.edu	37	14	58827698	58827698	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr14:58827698delC	ENST00000355431.3	+	19	2391	c.2018delC	c.(2017-2019)tcafs	p.S673fs	ARID4A_ENST00000348476.3_Frame_Shift_Del_p.S673fs|ARID4A_ENST00000431317.2_Frame_Shift_Del_p.S673fs|ARID4A_ENST00000395168.3_Frame_Shift_Del_p.S673fs	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	673					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						CCTTTAAAATCAACCCTCTCA	0.433																																																0													169	155	159					14																	58827698		2203	4300	6503	SO:0001589	frameshift_variant	5926			S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"-"	9885	protein-coding gene	gene with protein product		180201	"retinoblastoma-binding protein 1"	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.2018delC	chr14.hg19:g.58827698delC	ENSP00000347602:p.Ser673fs		Q15991|Q15992|Q15993	Frame_Shift_Del	DEL	ENST00000355431.3	hg19	CCDS9732.1																																																																																				0.433	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2	NM_023001		-	58827698	C	-	58827698	7	5	670	1	0	1	0	1	0	0	0	0	919	838	29	0	2088	0	ARID4A	14	58827698	Frame_Shift_Del	DEL	C	TCGA-HE-7129-01A-11D-1961-08	13191374	58827698	48521842	31	36737											
ESR2	2100	hgsc.bcm.edu	37	14	64746749	64746749	+	Missense_Mutation	SNP	C	C	G			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr14:64746749C>G	ENST00000341099.4	-	3	902	c.485G>C	c.(484-486)gGa>gCa	p.G162A	ESR2_ENST00000353772.3_Missense_Mutation_p.G162A|ESR2_ENST00000542956.1_Missense_Mutation_p.G162A|ESR2_ENST00000555483.1_Intron|ESR2_ENST00000358599.5_Missense_Mutation_p.G162A|ESR2_ENST00000553796.1_Missense_Mutation_p.G162A|ESR2_ENST00000357782.2_Missense_Mutation_p.G162A|ESR2_ENST00000554572.1_Missense_Mutation_p.G162A|ESR2_ENST00000555278.1_Missense_Mutation_p.G162A|ESR2_ENST00000557772.1_Missense_Mutation_p.G162A|ESR2_ENST00000267525.6_Missense_Mutation_p.G162A	NM_001437.2	NP_001428.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	162					brain development (GO:0007420)|cell-cell signaling (GO:0007267)|epithelial cell maturation involved in prostate gland development (GO:0060743)|extracellular negative regulation of signal transduction (GO:1900116)|gene expression (GO:0010467)|hormone-mediated apoptotic signaling pathway (GO:0008628)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|ovarian follicle development (GO:0001541)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|uterus development (GO:0060065)|vagina development (GO:0060068)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor antagonist activity (GO:0048019)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estropipate(DB04574)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	CGACCAGACTCCATAGTGATA	0.453																																																0													236	229	232					14																	64746749		2203	4300	6503	SO:0001583	missense	2100			X99101	CCDS9762.1, CCDS32096.1, CCDS55920.1, CCDS61469.1, CCDS61470.1	14q21-q22	2013-01-16			ENSG00000140009	ENSG00000140009		"Nuclear hormone receptors"	3468	protein-coding gene	gene with protein product		601663				8769313	Standard	NM_001214902		Approved	NR3A2, Erb	uc001xha.1	Q92731	OTTHUMG00000141306	ENST00000341099.4:c.485G>C	chr14.hg19:g.64746749C>G	ENSP00000343925:p.Gly162Ala		A8K8K5|G3V5M5|O60608|O60685|O60702|O60703|O75583|O75584|Q0MWT5|Q0MWT6|Q86Z31|Q9UEV6|Q9UHD3|Q9UQK9	Missense_Mutation	SNP	ENST00000341099.4	hg19	CCDS9762.1	.	.	.	.	.	.	.	.	.	.	C	32	5.148027	0.94603	.	.	ENSG00000140009	ENST00000556275;ENST00000542956;ENST00000554572;ENST00000353772;ENST00000358599;ENST00000555278;ENST00000553796;ENST00000357782;ENST00000557772;ENST00000341099;ENST00000267525	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	5.56	5.56	0.83823	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.000000	0.85682	D	0.000000	D	0.99312	0.9759	H	0.99425	4.56	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	1.0;1.0;1.0;1.0;1.0	D	0.98376	1.0556	10	0.87932	D	0	.	19.5206	0.95183	0.0:1.0:0.0:0.0	.	162;162;162;162;162	Q92731-7;Q92731;Q92731-6;Q92731-5;F1D8N3	.;ESR2_HUMAN;.;.;.	A	162	ENSP00000452485:G162A;ENSP00000441792:G162A;ENSP00000450699:G162A;ENSP00000335551:G162A;ENSP00000351412:G162A;ENSP00000450488:G162A;ENSP00000452426:G162A;ENSP00000350427:G162A;ENSP00000451582:G162A;ENSP00000343925:G162A;ENSP00000267525:G162A	ENSP00000267525:G162A	G	-	2	0	ESR2	63816502	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.647000	0.83462	2.623000	0.88846	0.557000	0.71058	GGA		0.453	ESR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280621.1			G	64746749	C	G	64746749	3	3	670	1	0	0	0	0	1	0	0	0	5259	855	30	4	1221	4	ESR2	14	64746749	Missense_Mutation	SNP	C	TCGA-HE-7129-01A-11D-1961-08	5919051	64746749	42602791	32	36738											
CYP46A1	10858	hgsc.bcm.edu	37	14	100165848	100165848	+	Missense_Mutation	SNP	C	C	A			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr14:100165848C>A	ENST00000261835.3	+	4	432	c.328C>A	c.(328-330)Cgt>Agt	p.R110S	CYP46A1_ENST00000423126.2_Missense_Mutation_p.R13S	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	110					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)	p.R110S(1)		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)				CAAGATGTACCGTGCGCTCCA	0.532																																																1	Substitution - Missense(1)	lung(1)											275	262	267					14																	100165848		2203	4300	6503	SO:0001583	missense	10858			AF094480	CCDS9954.1	14q32.2	2013-05-03	2003-02-14	2003-02-28	ENSG00000036530	ENSG00000036530		"Cytochrome P450s"	2641	protein-coding gene	gene with protein product		604087	"cytochrome P450, subfamily 46 (cholesterol 24-hydroxylase)"	CYP46		10377398	Standard	NM_006668		Approved		uc001ygo.3	Q9Y6A2	OTTHUMG00000171510	ENST00000261835.3:c.328C>A	chr14.hg19:g.100165848C>A	ENSP00000261835:p.Arg110Ser		B4DHP8|E7EQG9|Q8N2B0	Missense_Mutation	SNP	ENST00000261835.3	hg19	CCDS9954.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.951|7.951	0.744820|0.744820	0.15710|0.15710	.|.	.|.	ENSG00000036530|ENSG00000036530	ENST00000380228|ENST00000261835;ENST00000423126	.|T;D	.|0.82433	.|-0.31;-1.61	5.5|5.5	0.356|0.356	0.16074|0.16074	.|.	.|0.633707	.|0.15897	.|N	.|0.239263	T|T	0.62048|0.62048	0.2396|0.2396	N|N	0.16368|0.16368	0.405|0.405	0.27263|0.27263	N|N	0.958571|0.958571	.|B;B	.|0.14012	.|0.004;0.009	.|B;B	.|0.20384	.|0.029;0.01	T|T	0.45425|0.45425	-0.9262|-0.9262	5|10	.|0.08179	.|T	.|0.78	.|.	4.1573|4.1573	0.10266|0.10266	0.0:0.4696:0.1663:0.364|0.0:0.4696:0.1663:0.364	.|.	.|110;81	.|Q9Y6A2;Q59ER2	.|CP46A_HUMAN;.	Q|S	96|110;13	.|ENSP00000261835:R110S;ENSP00000405779:R13S	.|ENSP00000261835:R110S	P|R	+|+	2|1	0|0	CYP46A1|CYP46A1	99235601|99235601	0.968000|0.968000	0.33430|0.33430	0.978000|0.978000	0.43139|0.43139	0.933000|0.933000	0.57130|0.57130	0.329000|0.329000	0.19698|0.19698	0.398000|0.398000	0.25338|0.25338	-0.148000|-0.148000	0.13756|0.13756	CCG|CGT		0.532	CYP46A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413814.1			A	100165848	C	A	100165848	3	1	670	1	0	0	0	0	1	0	0	0	4184	652	23	4	342	4	CYP46A1	14	100165848	Missense_Mutation	SNP	C	TCGA-HE-7129-01A-11D-1961-08	35419099	100165848	7183692	33	36739											
CP110	9738	hgsc.bcm.edu	37	16	19548870	19548870	+	Missense_Mutation	SNP	T	T	A			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr16:19548870T>A	ENST00000381396.5	+	4	2126	c.1879T>A	c.(1879-1881)Ttc>Atc	p.F627I	CCP110_ENST00000396212.2_Missense_Mutation_p.F627I|CCP110_ENST00000396208.2_Missense_Mutation_p.F627I	NM_001199022.1	NP_001185951	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	627					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						GGGATCTGGCTTCGTTAACAA	0.348																																																0													40	42	42					16																	19548870		2197	4300	6497	SO:0001583	missense	9738			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.1879T>A	chr16.hg19:g.19548870T>A	ENSP00000370803:p.Phe627Ile		B7WP23|O43335|Q68DV9|Q8NE13	Missense_Mutation	SNP	ENST00000381396.5	hg19	CCDS55992.1	.	.	.	.	.	.	.	.	.	.	T	12.32	1.901950	0.33535	.	.	ENSG00000103540	ENST00000396212;ENST00000381396;ENST00000396208	T;T;T	0.13307	2.6;2.6;2.6	5.39	1.56	0.23342	.	0.876000	0.09983	N	0.730791	T	0.05318	0.0141	N	0.03608	-0.345	0.22213	N	0.999282	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.39251	-0.9623	10	0.37606	T	0.19	-0.0461	3.164	0.06529	0.1377:0.0766:0.1437:0.642	.	627;627	O43303;O43303-2	CP110_HUMAN;.	I	627	ENSP00000379515:F627I;ENSP00000370803:F627I;ENSP00000379511:F627I	ENSP00000370803:F627I	F	+	1	0	CCP110	19456371	0.389000	0.25205	0.861000	0.33841	0.927000	0.56198	0.910000	0.28571	0.291000	0.22468	0.460000	0.39030	TTC		0.348	CCP110-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254284.2	NM_014711		A	19548870	T	A	19548870	3	1	670	1	0	0	0	0	1	0	0	0	3790	1609	56	5	1889	5	CP110	16	19548870	Missense_Mutation	SNP	T	TCGA-HE-7129-01A-11D-1961-08		19548870	70805883	34	36740											
TNRC6A	27327	hgsc.bcm.edu	37	16	24826534	24826534	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr16:24826534G>A	ENST00000395799.3	+	19	4868	c.4739G>A	c.(4738-4740)aGt>aAt	p.S1580N	TNRC6A_ENST00000432286.2_Missense_Mutation_p.S58N|TNRC6A_ENST00000315183.7_Missense_Mutation_p.S1531N|CTD-2515A14.1_ENST00000568895.1_RNA	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1580					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)		ATGAACAGCAGTACTTCACCA	0.458																																																0													89	87	88					16																	24826534		2197	4300	6497	SO:0001583	missense	27327			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.4739G>A	chr16.hg19:g.24826534G>A	ENSP00000379144:p.Ser1580Asn		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	ENST00000395799.3	hg19	CCDS10624.2	.	.	.	.	.	.	.	.	.	.	G	24.7	4.561278	0.86335	.	.	ENSG00000090905	ENST00000315183;ENST00000395799;ENST00000432286	T;T	0.14022	2.58;2.54	5.92	5.92	0.95590	.	0.042755	0.85682	D	0.000000	T	0.29458	0.0734	L	0.59436	1.845	0.58432	D	0.999998	P;B;B;D	0.63880	0.718;0.427;0.392;0.993	B;B;B;P	0.54629	0.366;0.254;0.315;0.757	T	0.00097	-1.2072	10	0.33141	T	0.24	-13.8994	20.3206	0.98668	0.0:0.0:1.0:0.0	.	247;719;1531;1580	B3KSX2;C9JA83;Q8NDV7-6;Q8NDV7	.;.;.;TNR6A_HUMAN	N	1531;1580;58	ENSP00000326900:S1531N;ENSP00000379144:S1580N	ENSP00000326900:S1531N	S	+	2	0	TNRC6A	24734035	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.423000	0.90264	2.809000	0.96659	0.655000	0.94253	AGT		0.458	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		A	24826534	G	A	24826534	3	1	670	1	0	0	0	0	1	0	0	0	16345	1029	36	2	4813	2	TNRC6A	16	24826534	Missense_Mutation	SNP	G	TCGA-HE-7129-01A-11D-1961-08	5277664	24826534	65528219	35	36741											
CNOT1	23019	hgsc.bcm.edu	37	16	58585134	58585134	+	Missense_Mutation	SNP	T	T	C			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr16:58585134T>C	ENST00000317147.5	-	24	3576	c.3244A>G	c.(3244-3246)Aca>Gca	p.T1082A	CNOT1_ENST00000569240.1_Missense_Mutation_p.T1077A|CNOT1_ENST00000245138.4_5'UTR|CNOT1_ENST00000569732.1_5'Flank|CNOT1_ENST00000441024.2_Missense_Mutation_p.T1082A|SNORA46_ENST00000384762.1_RNA	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1082					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)		GTTTGATCTGTGGCCACAAGC	0.323																																																0													106	124	118					16																	58585134		2197	4300	6497	SO:0001583	missense	23019			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.3244A>G	chr16.hg19:g.58585134T>C	ENSP00000320949:p.Thr1082Ala		Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	hg19	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.669566	0.88348	.	.	ENSG00000125107	ENST00000317147;ENST00000422872;ENST00000394200;ENST00000441024	T;T	0.45668	0.93;0.89	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.51449	0.1675	L	0.37561	1.115	0.80722	D	1	D;P;P	0.56035	0.974;0.851;0.939	D;B;P	0.70487	0.969;0.253;0.625	T	0.39522	-0.9610	10	0.13470	T	0.59	.	15.4218	0.75018	0.0:0.0:0.0:1.0	.	1082;1082;1077	A5YKK6-4;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	A	1082;511;1077;1082	ENSP00000320949:T1082A;ENSP00000413113:T1082A	ENSP00000320949:T1082A	T	-	1	0	CNOT1	57142635	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.040000	0.89188	2.051000	0.60960	0.383000	0.25322	ACA		0.323	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		C	58585134	T	C	58585134	3	2	670	1	0	0	0	0	1	0	0	0	3619	1696	59	3	4212	3	CNOT1	16	58585134	Missense_Mutation	SNP	T	TCGA-HE-7129-01A-11D-1961-08	33758600	58585134	31769619	36	36742											
SLC6A4	6532	hgsc.bcm.edu	37	17	28525539	28525565	+	Splice_Site	DEL	TAATAATACGCTATTGGGAAGAAAATA	TAATAATACGCTATTGGGAAGAAAATA	-	rs202181933|rs201520429|rs200015551		TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08	TAATAATACGCTATTGGGAAGAAAATA	TAATAATACGCTATTGGGAAGAAAATA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr17:28525539_28525565delTAATAATACGCTATTGGGAAGAAAATA	ENST00000401766.2	-	14	2331_2340	c.1819_1828delTATTTTCTTCCCAATAGCGTATTATTA	c.(1819-1830)tattttcttccc>cc	p.YFLP607del	SLC6A4_ENST00000261707.3_Splice_Site_p.YFLP607del			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	607					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)	GTAATACTTTTAATAATACGCTATTGGGAAGAAAATACAATGTTATA	0.335																																																0																																										SO:0001630	splice_region_variant	6532			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.1819-1TATTTTCTTCCCAATAGCGTATTATTA>-	chr17.hg19:g.28525539_28525565delTAATAATACGCTATTGGGAAGAAAATA			Q5EE02	Frame_Shift_Del	DEL	ENST00000401766.2	hg19	CCDS11256.1																																																																																				0.335	SLC6A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256115.3	NM_001045	In_Frame_Del	-	28525565	TAATAATACGCTATTGGGAAGAAAATA	-	28525539	8	5	670	1	0	1	0	1	0	0	1	0	14692	1763	61	0	68	0	SLC6A4	17	28525539	Splice_Site	DEL	TAATAATACGCTATTGGGAAGAAAATA	TCGA-HE-7129-01A-11D-1961-08		28525539	52669671	37	36743											
LASP1	3927	hgsc.bcm.edu	37	17	37074921	37074921	+	Missense_Mutation	SNP	G	G	T			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr17:37074921G>T	ENST00000318008.6	+	7	1007	c.676G>T	c.(676-678)Ggg>Tgg	p.G226W	RP1-56K13.3_ENST00000580121.1_RNA|LASP1_ENST00000435347.3_Missense_Mutation_p.G226W|LASP1_ENST00000433206.2_Missense_Mutation_p.G170W	NM_006148.2	NP_006139.1	Q14847	LASP1_HUMAN	LIM and SH3 protein 1	226	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				ion transport (GO:0006811)|positive regulation of signal transduction (GO:0009967)	cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	ion transmembrane transporter activity (GO:0015075)|SH3/SH2 adaptor activity (GO:0005070)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(2)|lung(4)|urinary_tract(2)	9						CTTCCAGGACGGGGACACCAT	0.657			T	MLL	AML																																		Dom	yes		17	17q11-q21.3	3927	LIM and SH3 protein 1		L	0													121	105	111					17																	37074921		2203	4300	6503	SO:0001583	missense	3927				CCDS11331.1, CCDS62164.1	17q11-q21.3	2008-07-18			ENSG00000002834	ENSG00000002834			6513	protein-coding gene	gene with protein product		602920				7490069	Standard	NM_006148		Approved	MLN50, Lasp-1	uc010cvq.3	Q14847	OTTHUMG00000133182	ENST00000318008.6:c.676G>T	chr17.hg19:g.37074921G>T	ENSP00000325240:p.Gly226Trp		B4DGQ0|Q96ED2|Q96IG0	Missense_Mutation	SNP	ENST00000318008.6	hg19	CCDS11331.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.839198	0.91117	.	.	ENSG00000002834	ENST00000318008;ENST00000433206;ENST00000435347	T;T;T	0.70045	-0.45;-0.45;-0.45	5.39	5.39	0.77823	Src homology-3 domain (5);	0.476548	0.23146	N	0.051403	D	0.90045	0.6891	H	0.99211	4.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94064	0.7329	10	0.87932	D	0	.	17.7153	0.88335	0.0:0.0:1.0:0.0	.	170;226	B4DGQ0;Q14847	.;LASP1_HUMAN	W	226;170;226	ENSP00000325240:G226W;ENSP00000401048:G170W;ENSP00000392853:G226W	ENSP00000325240:G226W	G	+	1	0	LASP1	34328447	1.000000	0.71417	0.961000	0.40146	0.684000	0.39900	9.779000	0.99018	2.540000	0.85666	0.462000	0.41574	GGG		0.657	LASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256890.3	NM_006148		T	37074921	G	T	37074921	3	4	670	1	0	0	0	0	1	0	0	0	8639	1116	39	4	702	4	LASP1	17	37074921	Missense_Mutation	SNP	G	TCGA-HE-7129-01A-11D-1961-08	8549382	37074921	44120289	38	36744											
MED24	9862	hgsc.bcm.edu	37	17	38182477	38182477	+	Silent	SNP	C	C	T	rs572516214		TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr17:38182477C>T	ENST00000394128.2	-	19	1998	c.1917G>A	c.(1915-1917)tcG>tcA	p.S639S	MED24_ENST00000501516.3_Silent_p.S658S|SNORD124_ENST00000459577.1_RNA|MED24_ENST00000394126.1_Silent_p.S664S|MED24_ENST00000394127.2_Silent_p.S626S|MED24_ENST00000356271.3_Silent_p.S626S	NM_014815.3	NP_055630.2	O75448	MED24_HUMAN	mediator complex subunit 24	639					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)					TCATCTGCAGCGACTTCTCAC	0.567																																																0													143	129	134					17																	38182477		2203	4300	6503	SO:0001819	synonymous_variant	9862			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.1917G>A	chr17.hg19:g.38182477C>T			A8K4S5|B3KMR9|Q14143|Q9NNY5	Silent	SNP	ENST00000394128.2	hg19	CCDS11359.1																																																																																				0.567	MED24-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257147.2	NM_014815		T	38182477	C	T	38182477	2	4	670	1	0	0	0	0	0	0	0	1	9444	755	27	1		1	MED24	17	38182477	Silent	SNP	C	TCGA-HE-7129-01A-11D-1961-08	1107556	38182477	43012733	39	36745											
STAT5A	6776	hgsc.bcm.edu	37	17	40459443	40459443	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr17:40459443C>A	ENST00000345506.4	+	15	2346	c.1704C>A	c.(1702-1704)taC>taA	p.Y568*	STAT5A_ENST00000452307.2_Nonsense_Mutation_p.Y568*|STAT5A_ENST00000546010.2_Nonsense_Mutation_p.Y538*|STAT5A_ENST00000587646.1_Nonsense_Mutation_p.Y56*|STAT5A_ENST00000588868.1_Nonsense_Mutation_p.Y537*|STAT5A_ENST00000590949.1_Nonsense_Mutation_p.Y568*	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN	signal transducer and activator of transcription 5A	568					2-oxoglutarate metabolic process (GO:0006103)|allantoin metabolic process (GO:0000255)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|luteinization (GO:0001553)|mammary gland epithelium development (GO:0061180)|natural killer cell differentiation (GO:0001779)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of mast cell apoptotic process (GO:0033026)|oxaloacetate metabolic process (GO:0006107)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mast cell differentiation (GO:0060376)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin signaling pathway (GO:0038161)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription, DNA-templated (GO:0006351)|valine metabolic process (GO:0006573)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	calcium ion binding (GO:0005509)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		GCTGGAACTACACCTTCTGGC	0.632																																																0													83	76	79					17																	40459443		2203	4300	6503	SO:0001587	stop_gained	6776			U43185	CCDS11424.1, CCDS74066.1, CCDS74067.1	17q11.2	2013-02-14			ENSG00000126561	ENSG00000126561		"SH2 domain containing"	11366	protein-coding gene	gene with protein product		601511		STAT5		7719937, 8631883	Standard	NM_003152		Approved	MGF	uc002hzj.2	P42229	OTTHUMG00000150725	ENST00000345506.4:c.1704C>A	chr17.hg19:g.40459443C>A	ENSP00000341208:p.Tyr568*		Q1KLZ6	Nonsense_Mutation	SNP	ENST00000345506.4	hg19	CCDS11424.1	.	.	.	.	.	.	.	.	.	.	C	37	6.584660	0.97684	.	.	ENSG00000126561	ENST00000345506;ENST00000546010;ENST00000540577;ENST00000452307	.	.	.	4.79	1.62	0.23740	.	0.060457	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	-36.8444	10.4319	0.44413	0.0:0.7815:0.0:0.2185	.	.	.	.	X	568;538;539;568	.	ENSP00000341208:Y568X	Y	+	3	2	STAT5A	37712969	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.202000	0.32271	0.171000	0.19730	0.491000	0.48974	TAC		0.632	STAT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319804.1	NM_003152		A	40459443	C	A	40459443	4	1	670	1	0	0	0	0	0	1	0	0	15273	489	17	4	1754	4	STAT5A	17	40459443	Nonsense_Mutation	SNP	C	TCGA-HE-7129-01A-11D-1961-08	2276966	40459443	40735767	40	36746											
RND2	8153	hgsc.bcm.edu	37	17	41180503	41180503	+	Silent	SNP	C	C	A	rs535296435	byFrequency	TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr17:41180503C>A	ENST00000587250.2	+	5	597	c.490C>A	c.(490-492)Cgg>Agg	p.R164R	RND2_ENST00000544533.1_Silent_p.R165R|CTD-3199J23.4_ENST00000225973.5_lincRNA			P52198	RND2_HUMAN	Rho family GTPase 2	164					GTP catabolic process (GO:0006184)|positive regulation of collateral sprouting (GO:0048672)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(1)|skin(1)	2		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)		GTGCTCCTCCCGGTCCTCTGA	0.607																																																0													80	75	77					17																	41180503		2203	4300	6503	SO:0001819	synonymous_variant	8153			X95456	CCDS11452.1	17q21.31	2012-10-02	2005-01-24	2005-01-24	ENSG00000108830	ENSG00000108830			18315	protein-coding gene	gene with protein product		601555	"ras homolog gene family, member N"	ARHN			Standard	XM_005257706		Approved	Rho7, RhoN	uc002icn.3	P52198	OTTHUMG00000180817	ENST00000587250.2:c.490C>A	chr17.hg19:g.41180503C>A			A8K2D4|O00690|O00734|Q5U0P6|Q99535	Silent	SNP	ENST00000587250.2	hg19	CCDS11452.1																																																																																				0.607	RND2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453111.2	NM_005440		A	41180503	C	A	41180503	2	1	670	1	0	0	0	0	0	0	0	1	13426	643	23	4		4	RND2	17	41180503	Silent	SNP	C	TCGA-HE-7129-01A-11D-1961-08	721060	41180503	40014707	41	36747											
ITGB3	3690	hgsc.bcm.edu	37	17	45369560	45369560	+	Missense_Mutation	SNP	C	C	T			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr17:45369560C>T	ENST00000559488.1	+	10	1332	c.1316C>T	c.(1315-1317)tCc>tTc	p.S439F	ITGB3_ENST00000435993.2_Missense_Mutation_p.S392F|ITGB3_ENST00000560629.1_Silent_p.V427V	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	439					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)	AAGGAGAAGTCCTTTACCATA	0.522																																																0													94	78	84					17																	45369560		2203	4300	6503	SO:0001583	missense	3690				CCDS11511.1	17q21.32	2014-09-17			ENSG00000259207	ENSG00000259207		"CD molecules", "Integrins"	6156	protein-coding gene	gene with protein product	"platelet glycoprotein IIIa"	173470		GP3A		2454952	Standard	NM_000212		Approved	CD61, GPIIIa	uc002ilj.3	P05106	OTTHUMG00000171956	ENST00000559488.1:c.1316C>T	chr17.hg19:g.45369560C>T	ENSP00000452786:p.Ser439Phe		A0PJW2|D3DXJ8|O15495|Q12806|Q13413|Q14648|Q16499	Missense_Mutation	SNP	ENST00000559488.1	hg19	CCDS11511.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.558922	0.86231	.	.	ENSG00000178852	ENST00000262017;ENST00000435993	T	0.67171	-0.25	5.4	5.4	0.78164	Integrin beta subunit, N-terminal (2);	0.153255	0.56097	D	0.000025	T	0.78960	0.4366	L	0.60455	1.87	0.51233	D	0.99991	D	0.64830	0.994	D	0.65573	0.936	T	0.80324	-0.1430	10	0.66056	D	0.02	.	17.9137	0.88942	0.0:1.0:0.0:0.0	.	439	P05106	ITB3_HUMAN	F	439;392	ENSP00000407801:S392F	ENSP00000262017:S439F	S	+	2	0	C17orf57	42724559	0.998000	0.40836	1.000000	0.80357	0.953000	0.61014	3.315000	0.51951	2.531000	0.85337	0.462000	0.41574	TCC		0.522	ITGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416111.3	NM_000212		T	45369560	C	T	45369560	3	4	670	1	0	0	0	0	1	0	0	0	7897	855	30	2	1354	2	ITGB3	17	45369560	Missense_Mutation	SNP	C	TCGA-HE-7129-01A-11D-1961-08	4189057	45369560	35825650	42	36748											
HSF5	124535	hgsc.bcm.edu	37	17	56540550	56540550	+	Missense_Mutation	SNP	C	C	G			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr17:56540550C>G	ENST00000323777.3	-	4	1244	c.1135G>C	c.(1135-1137)Gtt>Ctt	p.V379L		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	379					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)					AACTCATCAACTATCTGAAAG	0.438																																																0													101	97	98					17																	56540550		2203	4300	6503	SO:0001583	missense	124535			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.1135G>C	chr17.hg19:g.56540550C>G	ENSP00000313243:p.Val379Leu		Q08EH7|Q8N7V2	Missense_Mutation	SNP	ENST00000323777.3	hg19	CCDS32690.1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.396051	0.42512	.	.	ENSG00000176160	ENST00000412540;ENST00000323777	T	0.43294	0.95	5.47	4.49	0.54785	.	0.247257	0.28754	N	0.014249	T	0.30448	0.0765	L	0.27053	0.805	0.38062	D	0.936116	B	0.06786	0.001	B	0.08055	0.003	T	0.11372	-1.0590	10	0.34782	T	0.22	.	12.6737	0.56882	0.1654:0.8346:0.0:0.0	.	379	Q4G112	HSF5_HUMAN	L	279;379	ENSP00000313243:V379L	ENSP00000313243:V379L	V	-	1	0	HSF5	53895549	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.377000	0.44300	1.273000	0.44346	0.650000	0.86243	GTT		0.438	HSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444719.1	XM_064190		G	56540550	C	G	56540550	3	3	670	1	0	0	0	0	1	0	0	0	7401	565	20	4	667	4	HSF5	17	56540550	Missense_Mutation	SNP	C	TCGA-HE-7129-01A-11D-1961-08	11170990	56540550	24654660	43	36749											
METTL2A	339175	hgsc.bcm.edu	37	17	60501296	60501296	+	Silent	SNP	A	A	G			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr17:60501296A>G	ENST00000311506.5	+	1	69	c.33A>G	c.(31-33)gcA>gcG	p.A11A		NM_181725.3	NP_859076.3	Q96IZ6	MET2A_HUMAN	methyltransferase like 2A	11					tRNA methylation (GO:0030488)		tRNA (cytosine) methyltransferase activity (GO:0016427)			breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)			GTGCACCTGCAGTCCTCGCCG	0.597											OREG0024635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													57	67	64					17																	60501296		692	1591	2283	SO:0001819	synonymous_variant	339175			AK000991	CCDS45752.1	17q23.3	2012-12-20		2006-02-10	ENSG00000087995	ENSG00000087995			25755	protein-coding gene	gene with protein product						12477932	Standard	NM_181725		Approved	FLJ12760, METTL2	uc002izv.2	Q96IZ6	OTTHUMG00000164527	ENST00000311506.5:c.33A>G	chr17.hg19:g.60501296A>G		1046	A6NNC4|Q9H9G9|Q9NUI8|Q9P0B5	Silent	SNP	ENST00000311506.5	hg19	CCDS45752.1																																																																																				0.597	METTL2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445130.1	NM_181725		G	60501296	A	G	60501296	2	3	670	1	0	0	0	0	0	0	0	1	9501	175	7	3		3	METTL2A	17	60501296	Silent	SNP	A	TCGA-HE-7129-01A-11D-1961-08	3960746	60501296	20693914	44	36750											
CYB561	1534	hgsc.bcm.edu	37	17	61511913	61511913	+	Silent	SNP	G	G	A			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr17:61511913G>A	ENST00000392976.1	-	6	905	c.606C>T	c.(604-606)aaC>aaT	p.N202N	CYB561_ENST00000582997.1_Silent_p.N209N|CYB561_ENST00000542042.1_Silent_p.N269N|CYB561_ENST00000582297.1_Intron|CYB561_ENST00000581163.1_5'UTR|CYB561_ENST00000448884.2_3'UTR|RP11-269G24.4_ENST00000584608.1_lincRNA|CYB561_ENST00000582034.1_Silent_p.N173N|CYB561_ENST00000360793.3_Silent_p.N202N|CYB561_ENST00000392975.2_Silent_p.N202N|CYB561_ENST00000584031.1_3'UTR|CYB561_ENST00000581573.1_Silent_p.N202N	NM_001017916.1	NP_001017916.1	P49447	CY561_HUMAN	cytochrome b561	202	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.				electron transport chain (GO:0022900)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)|transmembrane electron transfer carrier (GO:0022865)			lung(2)|ovary(1)|prostate(1)	4				READ - Rectum adenocarcinoma(1115;0.0689)		GGCCCAGCACGTTGGCCAGGA	0.642																																																0													48	48	48					17																	61511913		2203	4300	6503	SO:0001819	synonymous_variant	1534				CCDS11636.1	17q23.3	2013-03-14	2013-03-14		ENSG00000008283	ENSG00000008283		"Cytochrome b genes"	2571	protein-coding gene	gene with protein product	"ferric-chelate reductase 2", "cytochrome b561 family, member A1"	600019				7959749, 23249217	Standard	XM_005257091		Approved	FRRS2, CYB561A1	uc002jas.3	P49447		ENST00000392976.1:c.606C>T	chr17.hg19:g.61511913G>A			B2RE96|B7Z775|D3DU11|Q5BJG9|Q9BU05|Q9BWR9	Silent	SNP	ENST00000392976.1	hg19	CCDS11636.1																																																																																				0.642	CYB561-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444843.1	NM_001915		A	61511913	G	A	61511913	2	1	670	1	0	0	0	0	0	0	0	1	4121	1136	40	1		1	CYB561	17	61511913	Silent	SNP	G	TCGA-HE-7129-01A-11D-1961-08	1010617	61511913	19683297	45	36751											
ABCA5	23461	hgsc.bcm.edu	37	17	67303077	67303077	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr17:67303077G>A	ENST00000392676.3	-	6	641	c.577C>T	c.(577-579)Ctt>Ttt	p.L193F	ABCA5_ENST00000392677.2_Missense_Mutation_p.L193F|ABCA5_ENST00000588877.1_Missense_Mutation_p.L193F			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	193					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	TCCTTCCAAAGAGAAACATTG	0.348																																																0													56	60	59					17																	67303077		2198	4294	6492	SO:0001583	missense	23461			U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"ATP binding cassette transporters / subfamily A"	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.577C>T	chr17.hg19:g.67303077G>A	ENSP00000376443:p.Leu193Phe		Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	ENST00000392676.3	hg19	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.836993	0.50951	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.87966	-2.32;-2.32	5.22	-9.14	0.00701	.	1.842040	0.03300	N	0.188828	T	0.60625	0.2283	N	0.01352	-0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.57452	-0.7809	9	.	.	.	.	6.752	0.23491	0.1697:0.5331:0.2205:0.0768	.	193;193	Q8WWZ7-2;Q8WWZ7	.;ABCA5_HUMAN	F	193	ENSP00000376444:L193F;ENSP00000376443:L193F	.	L	-	1	0	ABCA5	64814672	0.090000	0.21635	0.839000	0.33178	0.999000	0.98932	0.440000	0.21592	-1.239000	0.02532	0.650000	0.86243	CTT		0.348	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672		A	67303077	G	A	67303077	3	1	670	1	0	0	0	0	1	0	0	0	35	942	33	2	4487	2	ABCA5	17	67303077	Missense_Mutation	SNP	G	TCGA-HE-7129-01A-11D-1961-08	5791164	67303077	13892133	46	36752											
RIN2	54453	hgsc.bcm.edu	37	20	19955386	19955386	+	Silent	SNP	C	C	T			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr20:19955386C>T	ENST00000255006.6	+	8	1013	c.864C>T	c.(862-864)tcC>tcT	p.S288S	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	239					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						GTCCTGCCTCCCTGCGTCAGC	0.547																																																0													73	77	75					20																	19955386		1935	4144	6079	SO:0001819	synonymous_variant	54453			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.864C>T	chr20.hg19:g.19955386C>T			Q00425|Q5TFT8|Q9BQL3|Q9H071	Silent	SNP	ENST00000255006.6	hg19	CCDS56182.1																																																																																				0.547	RIN2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078212.1			T	19955386	C	T	19955386	2	4	670	1	0	0	0	0	0	0	0	1	13378	610	22	2		2	RIN2	20	19955386	Silent	SNP	C	TCGA-HE-7129-01A-11D-1961-08		19955386	43070134	47	36753											
KDM6A	7403	hgsc.bcm.edu	37	X	44920581	44920581	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chrX:44920581delA	ENST00000377967.4	+	14	1383	c.1342delA	c.(1342-1344)aatfs	p.N448fs	KDM6A_ENST00000536777.1_Frame_Shift_Del_p.N403fs|KDM6A_ENST00000543216.1_Frame_Shift_Del_p.N403fs|KDM6A_ENST00000382899.4_Frame_Shift_Del_p.N455fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	448	Interaction with SUPT6H. {ECO:0000250}.				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)|p.0(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						TACTTCTGACAATTGGAGTGG	0.348			"D, N, F, S"		"renal, oesophageal SCC, MM"																																Colon(129;1273 1667 15230 27352 52914)		Rec	yes		X	Xp11.2	7403	"lysine (K)-specific demethylase 6A, UTX"		"E, L"	8	Whole gene deletion(6)|No detectable mRNA/protein(2)	haematopoietic_and_lymphoid_tissue(2)|oesophagus(2)|breast(2)|pancreas(2)											58	47	51					X																	44920581		2203	4300	6503	SO:0001589	frameshift_variant	7403			AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"Chromatin-modifying enzymes / K-demethylases", "Tetratricopeptide (TTC) repeat domain containing"	12637	protein-coding gene	gene with protein product		300128	"ubiquitously transcribed tetratricopeptide repeat, X chromosome"	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.1342delA	chrX.hg19:g.44920581delA	ENSP00000367203:p.Asn448fs		Q52LL9|Q5JVQ7	Frame_Shift_Del	DEL	ENST00000377967.4	hg19	CCDS14265.1																																																																																				0.348	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140		-	44920581	A	-	44920581	7	5	670	1	0	1	0	1	0	0	0	0	8139	130	5	0	1396	0	KDM6A	23	44920581	Frame_Shift_Del	DEL	A	TCGA-HE-7129-01A-11D-1961-08		44920581	110349979	48	36754											
EMD	2010	hgsc.bcm.edu	37	X	153609241	153609241	+	Splice_Site	DEL	G	G	-			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chrX:153609241delG	ENST00000369842.4	+	6	737		c.e6-1		EMD_ENST00000492448.1_Splice_Site|EMD_ENST00000369835.3_Splice_Site	NM_000117.2	NP_000108.1	P50402	EMD_HUMAN	emerin						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)					TTTTGCCTCAGGGAACGCCCC	0.622																																																0													77	67	71					X																	153609241		2203	4300	6503	SO:0001630	splice_region_variant	2010			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.450-1G>-	chrX.hg19:g.153609241delG			Q6FI02	Splice_Site	DEL	ENST00000369842.4	hg19	CCDS14745.1																																																																																				0.622	EMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080921.1		Intron	-	153609241	G	-	153609241	8	5	670	1	0	1	0	1	0	0	1	0	5089	1014	35	0	471	0	EMD	23	153609241	Splice_Site	DEL	G	TCGA-HE-7129-01A-11D-1961-08	108688660	153609241	1661319	49	36755											
PEX10	5192	hgsc.bcm.edu	37	1	2341814	2341814	+	Silent	SNP	A	A	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr1:2341814A>C	ENST00000447513.2	-	2	257	c.189T>G	c.(187-189)ctT>ctG	p.L63L	PEX10_ENST00000288774.3_Silent_p.L63L|PEX10_ENST00000515760.1_5'Flank|PEX10_ENST00000507596.1_Silent_p.L63L	NM_002617.3	NP_002608.1	O60683	PEX10_HUMAN	peroxisomal biogenesis factor 10	63					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)		TTCTACCTGCAAGTGTGGTGA	0.597																																					GBM(12;9 508 1649 13619)											0													99	86	91					1																	2341814		2203	4300	6503	SO:0001819	synonymous_variant	5192			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.189T>G	chr1.hg19:g.2341814A>C			B3KWD8|Q5T095|Q9BW90	Silent	SNP	ENST00000447513.2	hg19	CCDS44045.1																																																																																				0.597	PEX10-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367454.1	NM_153818		C	2341814	A	C	2341814	2	2	671	1	0	0	0	0	0	0	0	1	11738	117	5	5		5	PEX10	1	2341814	Silent	SNP	A	TCGA-HE-7130-01A-11D-1961-08		2341814	246908807	1	36756											
KIF1B	23095	hgsc.bcm.edu	37	1	10431203	10431203	+	Missense_Mutation	SNP	C	C	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr1:10431203C>T	ENST00000377086.1	+	45	5031	c.4829C>T	c.(4828-4830)tCt>tTt	p.S1610F	KIF1B_ENST00000377081.1_Missense_Mutation_p.S1610F|KIF1B_ENST00000263934.6_Missense_Mutation_p.S1564F			O60333	KIF1B_HUMAN	kinesin family member 1B	1610					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)		TTCCAGTTGTCTGATATCTCT	0.488																																																0													139	121	127					1																	10431203		2203	4300	6503	SO:0001583	missense	23095			AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"Kinesins", "Pleckstrin homology (PH) domain containing"	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.4829C>T	chr1.hg19:g.10431203C>T	ENSP00000366290:p.Ser1610Phe		A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	hg19		.	.	.	.	.	.	.	.	.	.	C	26.3	4.719966	0.89205	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.11712	2.75;2.75;2.75	5.53	5.53	0.82687	.	0.060274	0.64402	D	0.000002	T	0.22126	0.0533	N	0.19112	0.55	0.80722	D	1	D;P;D;D;P;D	0.76494	0.966;0.744;0.999;0.972;0.952;0.994	P;B;D;P;B;D	0.74348	0.641;0.289;0.959;0.845;0.288;0.983	T	0.02868	-1.1100	10	0.72032	D	0.01	.	19.8228	0.96604	0.0:1.0:0.0:0.0	.	1596;1570;1610;1584;1610;1564	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	F	1610;1564;1610;1610	ENSP00000263934:S1564F;ENSP00000366290:S1610F;ENSP00000366284:S1610F	ENSP00000263934:S1564F	S	+	2	0	KIF1B	10353790	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	7.445000	0.80570	2.759000	0.94783	0.650000	0.86243	TCT		0.488	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			T	10431203	C	T	10431203	3	4	671	1	0	0	0	0	1	0	0	0	8286	913	32	2	6346	2	KIF1B	1	10431203	Missense_Mutation	SNP	C	TCGA-HE-7130-01A-11D-1961-08	8089389	10431203	238819418	2	36757											
C1orf187	374946	hgsc.bcm.edu	37	1	11775243	11775243	+	Silent	SNP	C	C	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr1:11775243C>T	ENST00000294485.5	+	6	1050	c.915C>T	c.(913-915)ttC>ttT	p.F305F		NM_198545.3	NP_940947.3			dorsal inhibitory axon guidance protein																		ACAAATGCTTCGATGACTGCA	0.582																																																0													180	135	150					1																	11775243		2203	4300	6503	SO:0001819	synonymous_variant	374946			AY358750	CCDS135.1	1p36.22	2012-08-20	2012-08-14	2012-08-14	ENSG00000162490	ENSG00000162490			25054	protein-coding gene	gene with protein product	"dorsal repulsive axon guidance protein", "neural tissue-specific cysteine-rich protein"	612682	"chromosome 1 open reading frame 187"	C1orf187		19150847	Standard	NM_198545		Approved	FLJ34999, Draxin, Neucrin	uc001asr.1	Q8NBI3	OTTHUMG00000002227	ENST00000294485.5:c.915C>T	chr1.hg19:g.11775243C>T				Silent	SNP	ENST00000294485.5	hg19	CCDS135.1																																																																																				0.582	DRAXIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006325.1	NM_198545		T	11775243	C	T	11775243	2	4	671	1	0	0	0	0	0	0	0	1	2023	883	31	1		1	C1orf187	1	11775243	Silent	SNP	C	TCGA-HE-7130-01A-11D-1961-08	1344040	11775243	237475378	3	36758											
CASP9	842	hgsc.bcm.edu	37	1	15844625	15844625	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr1:15844625G>A	ENST00000333868.5	-	2	492	c.398C>T	c.(397-399)tCt>tTt	p.S133F	CASP9_ENST00000546424.1_Missense_Mutation_p.S133F|CASP9_ENST00000375890.4_Missense_Mutation_p.S50F|CASP9_ENST00000469637.1_5'Flank|CASP9_ENST00000348549.5_Missense_Mutation_p.S133F	NM_001229.3	NP_001220.2	P55211	CASP9_HUMAN	caspase 9, apoptosis-related cysteine peptidase	133					activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|aging (GO:0007568)|apoptotic process (GO:0006915)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|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 apoptotic process (GO:0034349)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of apoptotic process (GO:0042981)|regulation of response to DNA damage stimulus (GO:2001020)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|signal transduction in response to DNA damage (GO:0042770)	apoptosome (GO:0043293)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|enzyme activator activity (GO:0008047)|peptidase activity (GO:0008233)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|stomach(1)	18		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)		AAATCCTCCAGAACCAATGTC	0.517																																																0													114	100	105					1																	15844625		2203	4300	6503	SO:0001583	missense	842			U60521	CCDS158.1, CCDS159.1, CCDS159.2, CCDS59995.1	1p36.21	2012-04-17	2005-08-17		ENSG00000132906	ENSG00000132906		"Caspases", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1511	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 56"	602234	"caspase 9, apoptosis-related cysteine protease"			8663294, 9390557	Standard	NM_001229		Approved	MCH6, ICE-LAP6, APAF-3, PPP1R56	uc001awn.4	P55211	OTTHUMG00000002256	ENST00000333868.5:c.398C>T	chr1.hg19:g.15844625G>A	ENSP00000330237:p.Ser133Phe		B4E1A3|O95348|Q53Y70|Q5JRU9|Q5UGI1|Q92852|Q9BQ62|Q9UEQ3|Q9UIJ8	Missense_Mutation	SNP	ENST00000333868.5	hg19	CCDS158.1	.	.	.	.	.	.	.	.	.	.	G	8.539	0.872713	0.17322	.	.	ENSG00000132906	ENST00000546424;ENST00000333868;ENST00000348549;ENST00000375890;ENST00000447522;ENST00000440484	T;T;T;T;T;T	0.09445	4.56;4.58;2.98;4.47;3.81;3.51	4.77	3.83	0.44106	.	1.470630	0.03659	N	0.242280	T	0.24586	0.0596	L	0.50333	1.59	0.09310	N	1	D;P;B	0.54207	0.965;0.695;0.137	P;B;B	0.54312	0.748;0.231;0.087	T	0.20042	-1.0287	10	0.66056	D	0.02	.	10.9008	0.47051	0.0:0.1903:0.8097:0.0	.	133;133;133	P55211-2;P55211;F8VVS7	.;CASP9_HUMAN;.	F	133;133;133;50;50;133	ENSP00000449584:S133F;ENSP00000330237:S133F;ENSP00000255256:S133F;ENSP00000365051:S50F;ENSP00000396540:S50F;ENSP00000411304:S133F	ENSP00000330237:S133F	S	-	2	0	CASP9	15717212	0.022000	0.18835	0.150000	0.22450	0.099000	0.18886	1.320000	0.33666	1.330000	0.45394	0.563000	0.77884	TCT		0.517	CASP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006438.1	NM_032996		A	15844625	G	A	15844625	3	1	671	1	0	0	0	0	1	0	0	0	2681	942	33	2	884	2	CASP9	1	15844625	Missense_Mutation	SNP	G	TCGA-HE-7130-01A-11D-1961-08	4069382	15844625	233405996	4	36759											
EIF4G3	8672	hgsc.bcm.edu	37	1	21188793	21188793	+	Missense_Mutation	SNP	C	C	G			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr1:21188793C>G	ENST00000264211.8	-	17	3065	c.2871G>C	c.(2869-2871)gaG>gaC	p.E957D	EIF4G3_ENST00000602326.1_Missense_Mutation_p.E963D|EIF4G3_ENST00000374937.3_Missense_Mutation_p.E963D|EIF4G3_ENST00000400422.1_Missense_Mutation_p.E957D|EIF4G3_ENST00000537738.1_Missense_Mutation_p.E447D|EIF4G3_ENST00000374935.3_Missense_Mutation_p.E677D|EIF4G3_ENST00000536266.1_Missense_Mutation_p.E561D	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	957	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)		TCACAATTTTCTCCATCTGAT	0.353																																																0													123	119	121					1																	21188793		2203	4300	6503	SO:0001583	missense	8672			AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.2871G>C	chr1.hg19:g.21188793C>G	ENSP00000264211:p.Glu957Asp		B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	ENST00000264211.8	hg19	CCDS214.1	.	.	.	.	.	.	.	.	.	.	C	16.86	3.240150	0.58995	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374935;ENST00000537738;ENST00000374937;ENST00000536266	T;T;T;T;T;T	0.25250	1.81;1.81;1.81;1.81;1.81;1.81	5.56	1.54	0.23209	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.122140	0.56097	D	0.000022	T	0.34454	0.0898	L	0.37561	1.115	0.80722	D	1	D;B;B;D;B	0.89917	1.0;0.035;0.0;0.999;0.392	D;B;B;D;B	0.85130	0.997;0.05;0.011;0.994;0.173	T	0.01484	-1.1343	10	0.27785	T	0.31	-16.9367	9.6933	0.40143	0.0:0.7145:0.0:0.2855	.	1152;677;561;963;957	Q59GJ0;Q504Z1;F5H564;B9EGQ7;O43432	.;.;.;.;IF4G3_HUMAN	D	957;1153;957;677;447;963;561	ENSP00000264211:E957D;ENSP00000383274:E957D;ENSP00000364071:E677D;ENSP00000442010:E447D;ENSP00000364073:E963D;ENSP00000444693:E561D	ENSP00000264211:E957D	E	-	3	2	EIF4G3	21061380	0.678000	0.27586	0.998000	0.56505	0.983000	0.72400	-0.070000	0.11523	0.025000	0.15241	-0.808000	0.03180	GAG		0.353	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760		G	21188793	C	G	21188793	3	3	671	1	0	0	0	0	1	0	0	0	5040	912	32	4	1946	4	EIF4G3	1	21188793	Missense_Mutation	SNP	C	TCGA-HE-7130-01A-11D-1961-08	5344168	21188793	228061828	5	36760											
EIF4G3	8672	hgsc.bcm.edu	37	1	21226427	21226427	+	Missense_Mutation	SNP	C	C	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr1:21226427C>T	ENST00000264211.8	-	10	1788	c.1594G>A	c.(1594-1596)Gaa>Aaa	p.E532K	EIF4G3_ENST00000602326.1_Missense_Mutation_p.E538K|EIF4G3_ENST00000374937.3_Missense_Mutation_p.E538K|EIF4G3_ENST00000400422.1_Missense_Mutation_p.E532K|EIF4G3_ENST00000537738.1_5'Flank|EIF4G3_ENST00000544689.1_Missense_Mutation_p.E75K|EIF4G3_ENST00000374935.3_Missense_Mutation_p.E252K|EIF4G3_ENST00000536266.1_Missense_Mutation_p.E136K|EIF4G3_ENST00000374933.3_5'UTR	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	532					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)		AGCTCCTCTTCAGCTTTAAGC	0.358																																																0													95	103	100					1																	21226427		2202	4300	6502	SO:0001583	missense	8672			AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.1594G>A	chr1.hg19:g.21226427C>T	ENSP00000264211:p.Glu532Lys		B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	ENST00000264211.8	hg19	CCDS214.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.854237	0.51270	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374935;ENST00000374937;ENST00000536266;ENST00000374933;ENST00000544689	T;T;T;T;T;D	0.87412	2.05;2.05;1.94;2.05;2.05;-2.25	4.98	4.06	0.47325	.	0.426295	0.27143	N	0.020740	T	0.74809	0.3765	N	0.08118	0	0.80722	D	1	P;P;B;P;B	0.47762	0.9;0.651;0.007;0.546;0.376	B;B;B;B;B	0.40285	0.325;0.115;0.006;0.049;0.099	T	0.78458	-0.2196	10	0.52906	T	0.07	-18.3664	13.2326	0.59951	0.0:0.9233:0.0:0.0767	.	727;252;136;538;532	Q59GJ0;Q504Z1;F5H564;B9EGQ7;O43432	.;.;.;.;IF4G3_HUMAN	K	532;728;532;252;538;136;75;75	ENSP00000264211:E532K;ENSP00000383274:E532K;ENSP00000364071:E252K;ENSP00000364073:E538K;ENSP00000444693:E136K;ENSP00000444401:E75K	ENSP00000264211:E532K	E	-	1	0	EIF4G3	21099014	0.999000	0.42202	0.967000	0.41034	0.284000	0.27059	5.276000	0.65580	1.325000	0.45301	0.644000	0.83932	GAA		0.358	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760		T	21226427	C	T	21226427	3	4	671	1	0	0	0	0	1	0	0	0	5040	835	29	2	3251	2	EIF4G3	1	21226427	Missense_Mutation	SNP	C	TCGA-HE-7130-01A-11D-1961-08	37634	21226427	228024194	6	36761											
CDC42	998	hgsc.bcm.edu	37	1	22413230	22413230	+	Silent	SNP	C	C	G	rs143448220		TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr1:22413230C>G	ENST00000344548.3	+	6	608	c.357C>G	c.(355-357)ctC>ctG	p.L119L	CDC42_ENST00000400259.1_Silent_p.L119L|CDC42_ENST00000498236.1_3'UTR|CDC42_ENST00000315554.8_Silent_p.L119L|CDC42_ENST00000421089.2_Silent_p.L161L	NM_001039802.1	NP_001034891.1	P60953	CDC42_HUMAN	cell division cycle 42	119					actin cytoskeleton organization (GO:0030036)|actin filament branching (GO:0090135)|actin filament bundle assembly (GO:0051017)|adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway (GO:0060070)|cardiac conduction system development (GO:0003161)|cellular protein localization (GO:0034613)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell-cell adhesion (GO:0090136)|epithelial-mesenchymal cell signaling (GO:0060684)|establishment of Golgi localization (GO:0051683)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|filopodium assembly (GO:0046847)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|heart contraction (GO:0060047)|innate immune response (GO:0045087)|keratinization (GO:0031424)|keratinocyte development (GO:0003334)|macrophage differentiation (GO:0030225)|multicellular organism growth (GO:0035264)|muscle cell differentiation (GO:0042692)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of gene expression (GO:0010629)|negative regulation of protein complex assembly (GO:0031333)|neuron fate determination (GO:0048664)|nuclear migration (GO:0007097)|nucleus localization (GO:0051647)|organelle transport along microtubule (GO:0072384)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of hair follicle cell proliferation (GO:0071338)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of JNK cascade (GO:0046330)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of synapse structural plasticity (GO:0051835)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of filopodium assembly (GO:0051489)|regulation of mitosis (GO:0007088)|regulation of protein catabolic process (GO:0042176)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein kinase activity (GO:0045859)|regulation of protein stability (GO:0031647)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|sprouting angiogenesis (GO:0002040)|submandibular salivary gland formation (GO:0060661)|substantia nigra development (GO:0021762)|T cell costimulation (GO:0031295)	apical part of cell (GO:0045177)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|leading edge membrane (GO:0031256)|membrane (GO:0016020)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|spindle midzone (GO:0051233)	apolipoprotein A-I receptor binding (GO:0034191)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|thioesterase binding (GO:0031996)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)	12		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207)		AAATTGATCTCAGAGATGACC	0.438																																																0													167	181	177					1																	22413230		2203	4300	6503	SO:0001819	synonymous_variant	998			BC018266	CCDS221.1, CCDS222.1	1p36.1	2013-01-17	2013-01-17		ENSG00000070831	ENSG00000070831			1736	protein-coding gene	gene with protein product	"GTP binding protein, 25kDa"	116952	"cell division cycle 42 (GTP-binding protein, 25kD)", "cell division cycle 42 (GTP binding protein, 25kDa)"			2124704, 2122236	Standard	NM_001039802		Approved	G25K, CDC42Hs	uc001bfr.3	P60953	OTTHUMG00000002753	ENST00000344548.3:c.357C>G	chr1.hg19:g.22413230C>G			P21181|P25763|Q7L8R5|Q9UDI2	Silent	SNP	ENST00000344548.3	hg19	CCDS221.1																																																																																				0.438	CDC42-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007787.1	NM_001791		G	22413230	C	G	22413230	2	3	671	1	0	0	0	0	0	0	0	1	3073	813	29	4		4	CDC42	1	22413230	Silent	SNP	C	TCGA-HE-7130-01A-11D-1961-08	1186803	22413230	226837391	7	36762											
CDC42	998	hgsc.bcm.edu	37	1	22413329	22413329	+	Silent	SNP	C	C	G			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr1:22413329C>G	ENST00000344548.3	+	6	707	c.456C>G	c.(454-456)gtC>gtG	p.V152V	CDC42_ENST00000400259.1_Silent_p.V152V|CDC42_ENST00000498236.1_3'UTR|CDC42_ENST00000315554.8_Silent_p.V152V|CDC42_ENST00000421089.2_Silent_p.V194V	NM_001039802.1	NP_001034891.1	P60953	CDC42_HUMAN	cell division cycle 42	152					actin cytoskeleton organization (GO:0030036)|actin filament branching (GO:0090135)|actin filament bundle assembly (GO:0051017)|adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway (GO:0060070)|cardiac conduction system development (GO:0003161)|cellular protein localization (GO:0034613)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell-cell adhesion (GO:0090136)|epithelial-mesenchymal cell signaling (GO:0060684)|establishment of Golgi localization (GO:0051683)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|filopodium assembly (GO:0046847)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|heart contraction (GO:0060047)|innate immune response (GO:0045087)|keratinization (GO:0031424)|keratinocyte development (GO:0003334)|macrophage differentiation (GO:0030225)|multicellular organism growth (GO:0035264)|muscle cell differentiation (GO:0042692)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of gene expression (GO:0010629)|negative regulation of protein complex assembly (GO:0031333)|neuron fate determination (GO:0048664)|nuclear migration (GO:0007097)|nucleus localization (GO:0051647)|organelle transport along microtubule (GO:0072384)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of hair follicle cell proliferation (GO:0071338)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of JNK cascade (GO:0046330)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of synapse structural plasticity (GO:0051835)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of filopodium assembly (GO:0051489)|regulation of mitosis (GO:0007088)|regulation of protein catabolic process (GO:0042176)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein kinase activity (GO:0045859)|regulation of protein stability (GO:0031647)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|sprouting angiogenesis (GO:0002040)|submandibular salivary gland formation (GO:0060661)|substantia nigra development (GO:0021762)|T cell costimulation (GO:0031295)	apical part of cell (GO:0045177)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|leading edge membrane (GO:0031256)|membrane (GO:0016020)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|spindle midzone (GO:0051233)	apolipoprotein A-I receptor binding (GO:0034191)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|thioesterase binding (GO:0031996)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)	12		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207)		TGAAGGCTGTCAAGTATGTGG	0.448																																																0													148	150	149					1																	22413329		2203	4300	6503	SO:0001819	synonymous_variant	998			BC018266	CCDS221.1, CCDS222.1	1p36.1	2013-01-17	2013-01-17		ENSG00000070831	ENSG00000070831			1736	protein-coding gene	gene with protein product	"GTP binding protein, 25kDa"	116952	"cell division cycle 42 (GTP-binding protein, 25kD)", "cell division cycle 42 (GTP binding protein, 25kDa)"			2124704, 2122236	Standard	NM_001039802		Approved	G25K, CDC42Hs	uc001bfr.3	P60953	OTTHUMG00000002753	ENST00000344548.3:c.456C>G	chr1.hg19:g.22413329C>G			P21181|P25763|Q7L8R5|Q9UDI2	Silent	SNP	ENST00000344548.3	hg19	CCDS221.1																																																																																				0.448	CDC42-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007787.1	NM_001791		G	22413329	C	G	22413329	2	3	671	1	0	0	0	0	0	0	0	1	3073	813	29	4		4	CDC42	1	22413329	Silent	SNP	C	TCGA-HE-7130-01A-11D-1961-08	99	22413329	226837292	8	36763											
INPP5B	3633	hgsc.bcm.edu	37	1	38328025	38328025	+	Missense_Mutation	SNP	G	G	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr1:38328025G>C	ENST00000373026.1	-	23	2944	c.2944C>G	c.(2944-2946)Caa>Gaa	p.Q982E	INPP5B_ENST00000373023.2_Missense_Mutation_p.Q982E|INPP5B_ENST00000373024.3_Missense_Mutation_p.Q902E|MTF1_ENST00000373036.4_5'Flank|INPP5B_ENST00000373027.1_Missense_Mutation_p.Q738E|RP11-109P14.10_ENST00000419993.1_RNA			P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	982	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				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)				ATAAATTCTTGAGCCTTCTTC	0.453																																																0													121	118	119					1																	38328025		1860	4104	5964	SO:0001583	missense	3633			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.2944C>G	chr1.hg19:g.38328025G>C	ENSP00000362117:p.Gln982Glu		C9J6U5|Q5VSG9|Q5VSH0|Q5VSH1|Q658Q5|Q6P6D4|Q6PD53|Q86YE1	Missense_Mutation	SNP	ENST00000373026.1	hg19		.	.	.	.	.	.	.	.	.	.	G	14.26	2.482316	0.44147	.	.	ENSG00000204084	ENST00000373027;ENST00000373023;ENST00000373026;ENST00000373024	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.45637	0.1352	L	0.56769	1.78	0.80722	D	1	P	0.44241	0.829	B	0.43274	0.414	T	0.23368	-1.0190	10	0.17832	T	0.49	.	20.054	0.97641	0.0:0.0:1.0:0.0	.	902	P32019-2	.	E	738;982;982;902	ENSP00000362118:Q738E;ENSP00000362114:Q982E;ENSP00000362117:Q982E;ENSP00000362115:Q902E	ENSP00000362114:Q982E	Q	-	1	0	INPP5B	38100612	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	8.101000	0.89546	2.808000	0.96608	0.655000	0.94253	CAA		0.453	INPP5B-003	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000012968.1	NM_005540		C	38328025	G	C	38328025	3	2	671	1	0	0	0	0	1	0	0	0	7757	1299	45	4	41	4	INPP5B	1	38328025	Missense_Mutation	SNP	G	TCGA-HE-7130-01A-11D-1961-08	15914696	38328025	210922596	9	36764											
INPP5B	3633	hgsc.bcm.edu	37	1	38338748	38338748	+	Silent	SNP	G	G	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr1:38338748G>A	ENST00000373026.1	-	18	2281	c.2281C>T	c.(2281-2283)Ctg>Ttg	p.L761L	INPP5B_ENST00000373023.2_Silent_p.L761L|INPP5B_ENST00000373024.3_Silent_p.L681L|INPP5B_ENST00000373027.1_Silent_p.L517L			P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	761	ASH. {ECO:0000250}.				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)				TGCAGAACCAGAATGTCCTCA	0.438																																																0													207	193	198					1																	38338748		1876	4120	5996	SO:0001819	synonymous_variant	3633			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.2281C>T	chr1.hg19:g.38338748G>A			C9J6U5|Q5VSG9|Q5VSH0|Q5VSH1|Q658Q5|Q6P6D4|Q6PD53|Q86YE1	Silent	SNP	ENST00000373026.1	hg19																																																																																					0.438	INPP5B-003	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000012968.1	NM_005540		A	38338748	G	A	38338748	2	1	671	1	0	0	0	0	0	0	0	1	7757	933	33	2		2	INPP5B	1	38338748	Silent	SNP	G	TCGA-HE-7130-01A-11D-1961-08	10723	38338748	210911873	10	36765											
BMP8A	353500	hgsc.bcm.edu	37	1	39991443	39991443	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr1:39991443delG	ENST00000331593.5	+	7	1528	c.1182delG	c.(1180-1182)atgfs	p.M394fs	RP11-69E11.4_ENST00000458207.1_RNA|RP11-69E11.4_ENST00000440190.1_RNA|RP11-69E11.4_ENST00000450157.1_RNA|RP11-69E11.4_ENST00000441741.1_RNA|RP11-69E11.4_ENST00000431553.1_RNA|RP11-69E11.4_ENST00000417869.1_RNA|RP11-69E11.4_ENST00000331856.2_RNA	NM_181809.3	NP_861525.2	Q7Z5Y6	BMP8A_HUMAN	bone morphogenetic protein 8a	394					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|diet induced thermogenesis (GO:0002024)|growth (GO:0040007)|negative regulation of insulin secretion (GO:0046676)|ossification (GO:0001503)|regulation of energy homeostasis (GO:2000505)	extracellular space (GO:0005615)				kidney(1)|large_intestine(2)|lung(1)|skin(1)	5	Lung NSC(20;2.08e-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;9.69e-19)|Epithelial(16;9.34e-17)|all cancers(16;1.73e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ACCGCAACATGGTGGTCAAGG	0.612																																																0													135	111	119					1																	39991443		2203	4300	6503	SO:0001589	frameshift_variant	353500			AY303954	CCDS437.1	1p35-p32	2014-01-30			ENSG00000183682	ENSG00000183682		"Bone morphogenetic proteins", "Endogenous ligands"	21650	protein-coding gene	gene with protein product							Standard	NM_181809		Approved		uc001cdi.3	Q7Z5Y6	OTTHUMG00000008394	ENST00000331593.5:c.1182delG	chr1.hg19:g.39991443delG	ENSP00000327440:p.Met394fs		Q5T3A5	Frame_Shift_Del	DEL	ENST00000331593.5	hg19	CCDS437.1																																																																																				0.612	BMP8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023079.1	NM_181809		-	39991443	G	-	39991443	7	5	671	1	0	1	0	1	0	0	0	0	1466	1348	47	0	1208	0	BMP8A	1	39991443	Frame_Shift_Del	DEL	G	TCGA-HE-7130-01A-11D-1961-08	1652695	39991443	209259178	11	36766											
PTPRF	5792	hgsc.bcm.edu	37	1	44063522	44063522	+	Silent	SNP	C	C	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr1:44063522C>T	ENST00000359947.4	+	12	2257	c.1917C>T	c.(1915-1917)atC>atT	p.I639I	PTPRF_ENST00000422171.2_Intron|PTPRF_ENST00000372413.3_Silent_p.I639I|PTPRF_ENST00000372414.3_Silent_p.I639I|PTPRF_ENST00000438120.1_Silent_p.I639I	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	639	Fibronectin type-III 4. {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)				ACGGCGTTATCACCCAGTACT	0.682																																																0													36	35	35					1																	44063522		2203	4299	6502	SO:0001819	synonymous_variant	5792			Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.1917C>T	chr1.hg19:g.44063522C>T			D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Silent	SNP	ENST00000359947.4	hg19	CCDS489.2	.	.	.	.	.	.	.	.	.	.	C	6.416	0.444943	0.12164	.	.	ENSG00000142949	ENST00000429895	.	.	.	3.36	2.39	0.29439	.	.	.	.	.	T	0.53965	0.1829	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50101	-0.8867	4	.	.	.	.	6.7821	0.23652	0.1746:0.725:0.0:0.1004	.	.	.	.	L	296	.	.	S	+	2	0	PTPRF	43836109	0.931000	0.31567	0.996000	0.52242	0.537000	0.34900	0.201000	0.17276	1.613000	0.50231	0.313000	0.20887	TCA		0.682	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			T	44063522	C	T	44063522	2	4	671	1	0	0	0	0	0	0	0	1	12807	816	29	2		2	PTPRF	1	44063522	Silent	SNP	C	TCGA-HE-7130-01A-11D-1961-08	4072079	44063522	205187099	12	36767											
CCDC18	343099	hgsc.bcm.edu	37	1	93705376	93705376	+	Missense_Mutation	SNP	G	G	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr1:93705376G>C	ENST00000343253.7	+	21	3403	c.2901G>C	c.(2899-2901)ttG>ttC	p.L967F	CCDC18_ENST00000334652.5_Missense_Mutation_p.E261Q|CCDC18_ENST00000338949.4_Missense_Mutation_p.L723F|CCDC18_ENST00000401026.3_Missense_Mutation_p.L968F|CCDC18_ENST00000557479.1_Missense_Mutation_p.L1086F			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	967										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		TCCAGGAATTGAGAGATGTAC	0.343																																																0													100	91	94					1																	93705376		1815	4083	5898	SO:0001583	missense	343099					1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.2901G>C	chr1.hg19:g.93705376G>C	ENSP00000343377:p.Leu967Phe		Q6ZU17	Missense_Mutation	SNP	ENST00000343253.7	hg19		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	17.75|17.75|17.75	3.466942|3.466942|3.466942	0.63625|0.63625|0.63625	.|.|.	.|.|.	ENSG00000122483|ENSG00000122483|ENSG00000122483	ENST00000334652|ENST00000343253;ENST00000401026;ENST00000557479;ENST00000338949;ENST00000455267|ENST00000370276	.|T;T|.	.|0.78707|.	.|-1.2;-1.2|.	5.83|5.83|5.83	5.83|5.83|5.83	0.93111|0.93111|0.93111	.|.|.	.|0.000000|.	.|0.64402|.	.|D|.	.|0.000002|.	T|T|.	0.41534|0.41534|.	0.1163|0.1163|.	L|L|L	0.58101|0.58101|0.58101	1.795|1.795|1.795	0.22066|0.22066|0.22066	N|N|N	0.999385|0.999385|0.999385	.|D;D|.	.|0.89917|.	.|1.0;1.0|.	.|D;D|.	.|0.91635|.	.|0.999;0.999|.	T|T|.	0.36986|0.36986|.	-0.9725|-0.9725|.	6|10|.	0.87932|0.62326|.	D|D|.	0|0.03|.	.|.|.	13.3361|13.3361|13.3361	0.60518|0.60518|0.60518	0.0719:0.0:0.9281:0.0|0.0719:0.0:0.9281:0.0|0.0719:0.0:0.9281:0.0	.|.|.	.|967;1086|.	.|Q5T9S5;G3V388|.	.|CCD18_HUMAN;.|.	Q|F|S	261|967;968;1086;723;643|1021	.|ENSP00000383808:L968F;ENSP00000451099:L1086F|.	ENSP00000334084:E261Q|ENSP00000344380:L723F|.	E|L|X	+|+|+	1|3|2	0|2|2	CCDC18|CCDC18|CCDC18	93477964|93477964|93477964	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.996000|0.996000|0.996000	0.88848|0.88848|0.88848	1.479000|1.479000|1.479000	0.35453|0.35453|0.35453	2.749000|2.749000|2.749000	0.94314|0.94314|0.94314	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	GAG|TTG|TGA		0.343	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000382327.1	NM_206886		C	93705376	G	C	93705376	3	2	671	1	0	0	0	0	1	0	0	0	2796	1281	45	4	3340	4	CCDC18	1	93705376	Missense_Mutation	SNP	G	TCGA-HE-7130-01A-11D-1961-08	49641854	93705376	155545245	13	36768											
DDX20	11218	hgsc.bcm.edu	37	1	112309171	112309171	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr1:112309171G>A	ENST00000369702.4	+	11	2745	c.2125G>A	c.(2125-2127)Gag>Aag	p.E709K	DDX20_ENST00000475700.1_Missense_Mutation_p.E317K	NM_007204.4	NP_009135.4	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	709					ATP catabolic process (GO:0006200)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oogenesis (GO:0048477)|positive regulation of apoptotic process (GO:0043065)|regulation of steroid biosynthetic process (GO:0050810)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|spliceosomal snRNP assembly (GO:0000387)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)|transcriptional repressor complex (GO:0017053)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCCCAATCCAGAGAAATATCA	0.478																																																0													68	71	70					1																	112309171		2203	4299	6502	SO:0001583	missense	11218			AF106019	CCDS842.1	1p21.1-p13.2	2008-02-05	2003-06-13		ENSG00000064703	ENSG00000064703		"DEAD-boxes"	2743	protein-coding gene	gene with protein product		606168	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 20, 103kD"			10383418	Standard	NM_007204		Approved	DP103, GEMIN3	uc001ebs.3	Q9UHI6	OTTHUMG00000011956	ENST00000369702.4:c.2125G>A	chr1.hg19:g.112309171G>A	ENSP00000358716:p.Glu709Lys		B4DWV7|Q96F72|Q9NVM3|Q9UF59|Q9UIY0|Q9Y659	Missense_Mutation	SNP	ENST00000369702.4	hg19	CCDS842.1	.	.	.	.	.	.	.	.	.	.	G	4.428	0.079164	0.08533	.	.	ENSG00000064703	ENST00000369702;ENST00000475700	T;T	0.35048	1.33;1.89	5.71	5.71	0.89125	.	1.938660	0.01863	N	0.036737	T	0.13457	0.0326	N	0.19112	0.55	0.23893	N	0.996542	B;B	0.30973	0.302;0.09	B;B	0.33620	0.167;0.016	T	0.19289	-1.0310	9	.	.	.	0.764	8.6694	0.34140	0.0762:0.0:0.7714:0.1524	.	317;709	E9PJ60;Q9UHI6	.;DDX20_HUMAN	K	709;317	ENSP00000358716:E709K;ENSP00000435660:E317K	.	E	+	1	0	DDX20	112110694	0.080000	0.21391	0.034000	0.17996	0.052000	0.14988	2.490000	0.45294	2.703000	0.92315	0.655000	0.94253	GAG		0.478	DDX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033063.2	NM_007204		A	112309171	G	A	112309171	3	1	671	1	0	0	0	0	1	0	0	0	4350	943	33	2	2167	2	DDX20	1	112309171	Missense_Mutation	SNP	G	TCGA-HE-7130-01A-11D-1961-08	18603795	112309171	136941450	14	36769											
TXNIP	10628	hgsc.bcm.edu	37	1	145440057	145440059	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	AAG	AAG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr1:145440057_145440059delAAG	ENST00000369317.4	+	4	825_827	c.491_493delAAG	c.(490-495)aaagaa>aaa	p.E165del	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	165					cell cycle (GO:0007049)|cellular response to tumor cell (GO:0071228)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|negative regulation of cell division (GO:0051782)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|protein import into nucleus (GO:0006606)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCTGCTAAAAAAGAAAAGAAAGT	0.414																																																0																																										SO:0001651	inframe_deletion	10628			S73591	CCDS72876.1	1q11	2008-07-18			ENSG00000117289	ENSG00000265972			16952	protein-coding gene	gene with protein product	"upregulated by 1,25-dihydroxyvitamin D-3", "thioredoxin binding protein 2"	606599				8086474	Standard	NM_006472		Approved	VDUP1, EST01027, HHCPA78, THIF	uc001enn.4	Q9H3M7	OTTHUMG00000013755	ENST00000369317.4:c.491_493delAAG	chr1.hg19:g.145440057_145440059delAAG	ENSP00000358323:p.Glu165del		B4E3D3|Q16226|Q6PML0|Q9BXG9	In_Frame_Del	DEL	ENST00000369317.4	hg19	CCDS913.1																																																																																				0.414	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038547.1	NM_006472		-	145440059	AAG	-	145440057	7	5	671	1	0	1	0	1	0	0	0	0	16808	14	1	0	505	0	TXNIP	1	145440057	In_Frame_Del	DEL	AAG	TCGA-HE-7130-01A-11D-1961-08	33130886	145440057	103810564	15	36770											
POGZ	23126	hgsc.bcm.edu	37	1	151377387	151377387	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr1:151377387G>A	ENST00000271715.2	-	19	4438	c.4124C>T	c.(4123-4125)cCt>cTt	p.P1375L	POGZ_ENST00000368863.2_Missense_Mutation_p.P1280L|POGZ_ENST00000409503.1_Missense_Mutation_p.P1366L|POGZ_ENST00000491586.1_Missense_Mutation_p.P1331L|POGZ_ENST00000540984.1_Missense_Mutation_p.P737L|POGZ_ENST00000531094.1_Missense_Mutation_p.P1313L|POGZ_ENST00000361398.3_Missense_Mutation_p.P1322L|POGZ_ENST00000392723.1_Missense_Mutation_p.P1322L	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1375					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)			TGTCTCTTCAGGAGATGATCT	0.488											OREG0003905	type=REGULATORY REGION|Gene=POGZ|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																				0													101	96	98					1																	151377387		2203	4300	6503	SO:0001583	missense	23126			AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"zinc finger protein 280E", "putative protein product of Nbla00003"	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.4124C>T	chr1.hg19:g.151377387G>A	ENSP00000271715:p.Pro1375Leu	1739	B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Missense_Mutation	SNP	ENST00000271715.2	hg19	CCDS997.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.607106	0.46527	.	.	ENSG00000143442	ENST00000392723;ENST00000271715;ENST00000361398;ENST00000368863;ENST00000409503;ENST00000531094;ENST00000540984;ENST00000491586	T;T;T;T;T;T;T;T	0.24908	5.79;5.82;5.79;5.76;5.8;5.8;1.83;5.28	5.05	5.05	0.67936	.	0.000000	0.64402	D	0.000003	T	0.20007	0.0481	N	0.19112	0.55	0.58432	D	0.999999	B;D;P;P;B;B	0.58268	0.164;0.982;0.763;0.465;0.253;0.267	B;P;B;B;B;B	0.53006	0.04;0.715;0.173;0.124;0.087;0.058	T	0.02098	-1.1214	10	0.66056	D	0.02	-14.1248	17.4919	0.87707	0.0:0.0:1.0:0.0	.	1313;1366;1280;1331;1322;1375	E9PM80;B7ZBY5;Q7Z3K3-5;Q7Z3K3-3;Q7Z3K3-2;Q7Z3K3	.;.;.;.;.;POGZ_HUMAN	L	1322;1375;1322;1280;1366;1313;737;1331	ENSP00000376484:P1322L;ENSP00000271715:P1375L;ENSP00000354467:P1322L;ENSP00000357856:P1280L;ENSP00000386836:P1366L;ENSP00000431259:P1313L;ENSP00000443547:P737L;ENSP00000418408:P1331L	ENSP00000271715:P1375L	P	-	2	0	POGZ	149644011	1.000000	0.71417	0.999000	0.59377	0.935000	0.57460	6.397000	0.73239	2.780000	0.95670	0.655000	0.94253	CCT		0.488	POGZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034915.2	NM_207171		A	151377387	G	A	151377387	3	1	671	1	0	0	0	0	1	0	0	0	12188	1000	35	2	112	2	POGZ	1	151377387	Missense_Mutation	SNP	G	TCGA-HE-7130-01A-11D-1961-08	5937330	151377387	97873234	16	36771											
FLG	2312	hgsc.bcm.edu	37	1	152281276	152281276	+	Missense_Mutation	SNP	G	G	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr1:152281276G>C	ENST00000368799.1	-	3	6121	c.6086C>G	c.(6085-6087)tCt>tGt	p.S2029C	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2029	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)			TCTGACTGCAGATGAAGCTTG	0.542									Ichthyosis																																							0													601	507	539					1																	152281276		2203	4298	6501	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6086C>G	chr1.hg19:g.152281276G>C	ENSP00000357789:p.Ser2029Cys		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	hg19	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	g	5.168	0.216596	0.09810	.	.	ENSG00000143631	ENST00000368799	T	0.04083	3.71	3.44	2.51	0.30379	.	.	.	.	.	T	0.07052	0.0179	M	0.61703	1.905	0.09310	N	1	D	0.76494	0.999	D	0.65684	0.937	T	0.17440	-1.0369	9	0.56958	D	0.05	.	8.6711	0.34152	0.0:0.2608:0.7392:0.0	.	2029	P20930	FILA_HUMAN	C	2029	ENSP00000357789:S2029C	ENSP00000357789:S2029C	S	-	2	0	FLG	150547900	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	-0.118000	0.10692	0.748000	0.32831	0.485000	0.47835	TCT		0.542	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		C	152281276	G	C	152281276	3	2	671	1	0	0	0	0	1	0	0	0	5924	942	33	4	6103	4	FLG	1	152281276	Missense_Mutation	SNP	G	TCGA-HE-7130-01A-11D-1961-08	903889	152281276	96969345	17	36772											
CHRNB2	1141	hgsc.bcm.edu	37	1	154544111	154544111	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr1:154544111C>A	ENST00000368476.3	+	5	1076	c.812C>A	c.(811-813)tCa>tAa	p.S271*		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	271					action potential (GO:0001508)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|central nervous system projection neuron axonogenesis (GO:0021952)|cognition (GO:0050890)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|lateral geniculate nucleus development (GO:0021771)|learning (GO:0007612)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|neurological system process (GO:0050877)|optic nerve morphogenesis (GO:0021631)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|protein heterooligomerization (GO:0051291)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of circadian sleep/wake cycle, REM sleep (GO:0042320)|regulation of dendrite morphogenesis (GO:0048814)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine secretion (GO:0014059)|regulation of synapse assembly (GO:0051963)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|sensory perception of pain (GO:0019233)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)|vestibulocochlear nerve development (GO:0021562)|visual learning (GO:0008542)|visual perception (GO:0007601)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|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)|drug binding (GO:0008144)|ligand-gated ion channel activity (GO:0015276)	p.S271*(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Dextromethorphan(DB00514)|Galantamine(DB00674)|Nicotine(DB00184)	TTGTGCATCTCAGTGCTGCTG	0.577																																																1	Substitution - Nonsense(1)	lung(1)											280	208	233					1																	154544111		2203	4300	6503	SO:0001587	stop_gained	1141			U62437	CCDS1070.1	1q21.3	2012-02-11	2006-02-01		ENSG00000160716	ENSG00000160716		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1962	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, beta 2 (neuronal)"	118507	"cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)"			1505988	Standard	NM_000748		Approved		uc001ffg.3	P17787	OTTHUMG00000037262	ENST00000368476.3:c.812C>A	chr1.hg19:g.154544111C>A	ENSP00000357461:p.Ser271*		Q9UEH9	Nonsense_Mutation	SNP	ENST00000368476.3	hg19	CCDS1070.1	.	.	.	.	.	.	.	.	.	.	C	39	7.470747	0.98306	.	.	ENSG00000160716	ENST00000368476	.	.	.	4.1	4.1	0.47936	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.1089	0.81244	0.0:1.0:0.0:0.0	.	.	.	.	X	271	.	ENSP00000357461:S271X	S	+	2	0	CHRNB2	152810735	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	7.608000	0.82898	2.095000	0.63458	0.467000	0.42956	TCA		0.577	CHRNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090697.1	NM_000748		A	154544111	C	A	154544111	4	1	671	1	0	0	0	0	0	1	0	0	3393	838	29	4	830	4	CHRNB2	1	154544111	Nonsense_Mutation	SNP	C	TCGA-HE-7130-01A-11D-1961-08	2262835	154544111	94706510	18	36773											
GON4L	54856	hgsc.bcm.edu	37	1	155723194	155723194	+	Missense_Mutation	SNP	G	G	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr1:155723194G>C	ENST00000368331.1	-	29	5691	c.5643C>G	c.(5641-5643)agC>agG	p.S1881R	GON4L_ENST00000437809.1_Missense_Mutation_p.S1881R|GON4L_ENST00000271883.5_Missense_Mutation_p.S1881R	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1881					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TGTAGGATTTGCTGTCACAGA	0.582																																																0													107	105	106					1																	155723194		1950	4137	6087	SO:0001583	missense	54856			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"gon-4 homolog (C.elegans)"	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.5643C>G	chr1.hg19:g.155723194G>C	ENSP00000357315:p.Ser1881Arg		B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	ENST00000368331.1	hg19		.	.	.	.	.	.	.	.	.	.	G	15.41	2.824139	0.50739	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883	T;T;T	0.10668	2.85;2.85;2.85	5.15	4.23	0.50019	.	0.195098	0.45867	D	0.000333	T	0.04770	0.0129	L	0.44542	1.39	0.34449	D	0.70051	P;P	0.38048	0.481;0.616	B;B	0.35312	0.098;0.2	T	0.23655	-1.0182	10	0.45353	T	0.12	.	13.8128	0.63273	0.0753:0.0:0.9247:0.0	.	1881;1881	Q3T8J9;Q3T8J9-3	GON4L_HUMAN;.	R	1881	ENSP00000396117:S1881R;ENSP00000357315:S1881R;ENSP00000271883:S1881R	ENSP00000271883:S1881R	S	-	3	2	GON4L	153989818	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	4.844000	0.62846	1.377000	0.46286	0.455000	0.32223	AGC		0.582	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		C	155723194	G	C	155723194	3	2	671	1	0	0	0	0	1	0	0	0	6574	1310	46	4	1095	4	GON4L	1	155723194	Missense_Mutation	SNP	G	TCGA-HE-7130-01A-11D-1961-08	1179083	155723194	93527427	19	36774											
OR10Z1	128368	hgsc.bcm.edu	37	1	158576303	158576303	+	Silent	SNP	C	C	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr1:158576303C>T	ENST00000361284.1	+	1	75	c.75C>T	c.(73-75)ctC>ctT	p.L25L		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	25						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(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					AGTTGCAGCTCCTTCTCTTTG	0.498																																																0													179	173	175					1																	158576303		2203	4300	6503	SO:0001819	synonymous_variant	128368			AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"GPCR / Class A : Olfactory receptors"	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.75C>T	chr1.hg19:g.158576303C>T			Q5VYL0|Q6IFR7	Silent	SNP	ENST00000361284.1	hg19	CCDS30901.1																																																																																				0.498	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478		T	158576303	C	T	158576303	2	4	671	1	0	0	0	0	0	0	0	1	10925	842	30	2		2	OR10Z1	1	158576303	Silent	SNP	C	TCGA-HE-7130-01A-11D-1961-08	2853109	158576303	90674318	20	36775											
OR6N1	128372	hgsc.bcm.edu	37	1	158735810	158735810	+	Silent	SNP	G	G	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr1:158735810G>A	ENST00000335094.2	-	1	682	c.663C>T	c.(661-663)atC>atT	p.I221I		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	221						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)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					CTGTGCAGATGATCTGCACAT	0.488																																																0													125	124	125					1																	158735810		2203	4300	6503	SO:0001819	synonymous_variant	128372			BK004199	CCDS30905.1	1q23.1	2012-08-09			ENSG00000197403	ENSG00000197403		"GPCR / Class A : Olfactory receptors"	15034	protein-coding gene	gene with protein product							Standard	NM_001005185		Approved		uc010piq.2	Q8NGY5	OTTHUMG00000022774	ENST00000335094.2:c.663C>T	chr1.hg19:g.158735810G>A			Q5VUU8|Q96R35	Silent	SNP	ENST00000335094.2	hg19	CCDS30905.1																																																																																				0.488	OR6N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059067.1	NM_001005185		A	158735810	G	A	158735810	2	1	671	1	0	0	0	0	0	0	0	1	11208	1280	45	2		2	OR6N1	1	158735810	Silent	SNP	G	TCGA-HE-7130-01A-11D-1961-08	159507	158735810	90514811	21	36776											
PYHIN1	149628	hgsc.bcm.edu	37	1	158943473	158943473	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr1:158943473G>A	ENST00000368140.1	+	8	1641	c.1396G>A	c.(1396-1398)Gca>Aca	p.A466T	PYHIN1_ENST00000368138.3_Missense_Mutation_p.A457T|PYHIN1_ENST00000392254.2_Intron|PYHIN1_ENST00000392252.3_Intron	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	466					cell cycle (GO:0007049)	nucleus (GO:0005634)				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					GTCATCGCCTGCAAACTTTAG	0.448																																																0													162	144	150					1																	158943473		2203	4300	6503	SO:0001583	missense	149628			AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564			28894	protein-coding gene	gene with protein product		612677				15122330	Standard	NM_152501		Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.1396G>A	chr1.hg19:g.158943473G>A	ENSP00000357122:p.Ala466Thr		Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Missense_Mutation	SNP	ENST00000368140.1	hg19	CCDS1178.1	.	.	.	.	.	.	.	.	.	.	G	1.474	-0.558987	0.03967	.	.	ENSG00000163564	ENST00000368140;ENST00000368138	T;T	0.06294	3.33;3.32	1.95	-2.27	0.06846	.	.	.	.	.	T	0.00724	0.0024	N	0.08118	0	0.09310	N	1	B;B	0.22604	0.072;0.043	B;B	0.16289	0.015;0.007	T	0.46512	-0.9186	9	0.16420	T	0.52	.	6.2156	0.20653	0.668:0.0:0.332:0.0	.	457;466	Q6K0P9-2;Q6K0P9	.;IFIX_HUMAN	T	466;457	ENSP00000357122:A466T;ENSP00000357120:A457T	ENSP00000357120:A457T	A	+	1	0	PYHIN1	157210097	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.349000	0.02627	-0.729000	0.04875	-0.143000	0.13931	GCA		0.448	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090110.1	NM_152501		A	158943473	G	A	158943473	3	1	671	1	0	0	0	0	1	0	0	0	12871	1319	46	2	1422	2	PYHIN1	1	158943473	Missense_Mutation	SNP	G	TCGA-HE-7130-01A-11D-1961-08	207663	158943473	90307148	22	36777											
POGK	57645	hgsc.bcm.edu	37	1	166818273	166818273	+	Missense_Mutation	SNP	C	C	A	rs202168363		TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr1:166818273C>A	ENST00000367875.1	+	5	817	c.457C>A	c.(457-459)Cgt>Agt	p.R153S	POGK_ENST00000537173.1_Missense_Mutation_p.R35S|POGK_ENST00000367876.4_Missense_Mutation_p.R153S|POGK_ENST00000536514.1_Missense_Mutation_p.R68S			Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	153					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	22						CTTTGGCCTCCGTCTGCCTCG	0.542																																					GBM(76;192 1530 30153 48742)											0													110	107	108					1																	166818273		2203	4300	6503	SO:0001583	missense	57645			AB040946	CCDS1254.1	1q23.2	2013-01-08			ENSG00000143157	ENSG00000143157		"-"	18800	protein-coding gene	gene with protein product	"KRAB box domain containing 2"						Standard	NM_017542		Approved	KIAA15131, LST003, BASS2, KRBOX2	uc001gdt.1	Q9P215	OTTHUMG00000034325	ENST00000367875.1:c.457C>A	chr1.hg19:g.166818273C>A	ENSP00000356849:p.Arg153Ser		Q5TIJ1|Q8TE07	Missense_Mutation	SNP	ENST00000367875.1	hg19	CCDS1254.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.895562	0.33442	.	.	ENSG00000143157	ENST00000537173;ENST00000536514;ENST00000449930;ENST00000367876;ENST00000367875	T;T;T;T;T	0.34472	1.38;1.36;4.67;4.6;4.6	5.3	4.37	0.52481	.	0.137019	0.33959	N	0.004396	T	0.10981	0.0268	N	0.24115	0.695	0.31455	N	0.670285	B;B;B	0.23185	0.081;0.049;0.049	B;B;B	0.20577	0.03;0.022;0.022	T	0.08827	-1.0703	9	0.30078	T	0.28	-3.0623	11.0801	0.48055	0.1848:0.8152:0.0:0.0	.	35;68;153	G3V1P0;B4DS22;Q9P215	.;.;POGK_HUMAN	S	35;68;153;153;153	ENSP00000442763:R35S;ENSP00000441187:R68S;ENSP00000404402:R153S;ENSP00000356850:R153S;ENSP00000356849:R153S	ENSP00000356849:R153S	R	+	1	0	POGK	165084897	0.996000	0.38824	0.740000	0.30986	0.861000	0.49209	3.195000	0.51013	1.442000	0.47568	0.655000	0.94253	CGT		0.542	POGK-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082888.1	NM_017542		A	166818273	C	A	166818273	3	1	671	1	0	0	0	0	1	0	0	0	12187	652	23	4	471	4	POGK	1	166818273	Missense_Mutation	SNP	C	TCGA-HE-7130-01A-11D-1961-08	7874800	166818273	82432348	23	36778											
FASLG	356	hgsc.bcm.edu	37	1	172634825	172634825	+	Missense_Mutation	SNP	C	C	T	rs80358236		TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr1:172634825C>T	ENST00000367721.2	+	4	699	c.515C>T	c.(514-516)tCt>tTt	p.S172F	FASLG_ENST00000340030.3_3'UTR	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	172					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						GTCCTGCTTTCTGGAGTGAAG	0.433																																					Ovarian(28;486 876 30334 44033)											0													136	120	126					1																	172634825		2203	4300	6503	SO:0001583	missense	356			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.515C>T	chr1.hg19:g.172634825C>T	ENSP00000356694:p.Ser172Phe		Q9BZP9	Missense_Mutation	SNP	ENST00000367721.2	hg19	CCDS1304.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.374699	0.61735	.	.	ENSG00000117560	ENST00000367721	T	0.65732	-0.17	5.24	5.24	0.73138	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.277042	0.34046	N	0.004302	T	0.74496	0.3724	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.78064	-0.2350	10	0.72032	D	0.01	-19.152	13.9766	0.64277	0.0:0.8471:0.1529:0.0	.	172	P48023	TNFL6_HUMAN	F	172	ENSP00000356694:S172F	ENSP00000356694:S172F	S	+	2	0	FASLG	170901448	0.930000	0.31532	0.910000	0.35882	0.880000	0.50808	2.041000	0.41213	2.455000	0.83008	0.650000	0.86243	TCT		0.433	FASLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084276.1			T	172634825	C	T	172634825	3	4	671	1	0	0	0	0	1	0	0	0	5684	913	32	2	529	2	FASLG	1	172634825	Missense_Mutation	SNP	C	TCGA-HE-7130-01A-11D-1961-08	5816552	172634825	76615796	24	36779											
OR2L8	391190	hgsc.bcm.edu	37	1	248112585	248112585	+	Silent	SNP	G	G	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr1:248112585G>A	ENST00000357191.3	+	1	426	c.426G>A	c.(424-426)ctG>ctA	p.L142L	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	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(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	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;0.0152)			TGTGTGTGCTGATGATAACAG	0.438																																																0													295	240	258					1																	248112585		2203	4300	6503	SO:0001819	synonymous_variant	391190			BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"GPCR / Class A : Olfactory receptors"	15014	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily L, member 8"				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.426G>A	chr1.hg19:g.248112585G>A			Q6IF03	Silent	SNP	ENST00000357191.3	hg19	CCDS31101.1																																																																																				0.438	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2			A	248112585	G	A	248112585	2	1	671	1	0	0	0	0	0	0	0	1	11011	1277	45	2		2	OR2L8	1	248112585	Silent	SNP	G	TCGA-HE-7130-01A-11D-1961-08	75477760	248112585	1138036	25	36780											
BIRC6	57448	hgsc.bcm.edu	37	2	32626579	32626579	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr2:32626579C>T	ENST00000421745.2	+	8	1440	c.1306C>T	c.(1306-1308)Cag>Tag	p.Q436*		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	436					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)					AATTGTACAACAGCTTATTCT	0.378																																					Pancreas(94;175 1509 16028 18060 45422)											0													105	107	106					2																	32626579		2203	4300	6503	SO:0001587	stop_gained	57448			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"Baculoviral IAP repeat containing", "Ubiquitin-conjugating enzymes E2"	13516	protein-coding gene	gene with protein product	"apollon"	605638	"baculoviral IAP repeat-containing 6"			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.1306C>T	chr2.hg19:g.32626579C>T	ENSP00000393596:p.Gln436*		Q9ULD1	Nonsense_Mutation	SNP	ENST00000421745.2	hg19	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	C	36	5.679441	0.96774	.	.	ENSG00000115760	ENST00000421745	.	.	.	5.92	5.92	0.95590	.	0.157867	0.40908	D	0.000998	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	.	13.5098	0.61504	0.0:0.929:0.0:0.071	.	.	.	.	X	436	.	ENSP00000393596:Q436X	Q	+	1	0	BIRC6	32480083	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.615000	0.61190	2.813000	0.96785	0.561000	0.74099	CAG		0.378	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		T	32626579	C	T	32626579	4	4	671	1	0	0	0	0	0	1	0	0	1438	479	17	2	1336	2	BIRC6	2	32626579	Nonsense_Mutation	SNP	C	TCGA-HE-7130-01A-11D-1961-08		32626579	210572794	26	36781											
SOS1	6654	hgsc.bcm.edu	37	2	39281894	39281894	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr2:39281894G>A	ENST00000426016.1	-	6	667	c.581C>T	c.(580-582)tCc>tTc	p.S194F	SOS1_ENST00000402219.2_Missense_Mutation_p.S194F|SOS1_ENST00000395038.2_Missense_Mutation_p.S194F|SOS1_ENST00000428721.2_Missense_Mutation_p.S137F			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	194					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)				TCCTGAGGTGGAAGGCTCTTC	0.284									Noonan syndrome																																							0													86	99	94					2																	39281894		2203	4297	6500	SO:0001583	missense	6654	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	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.581C>T	chr2.hg19:g.39281894G>A	ENSP00000387784:p.Ser194Phe		A8K2G3|B4DXG2	Missense_Mutation	SNP	ENST00000426016.1	hg19	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.921771	0.52653	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000395038;ENST00000263879;ENST00000428721	T;T;T;D	0.96334	-1.08;-1.08;-1.21;-3.98	5.88	5.88	0.94601	.	0.063359	0.64402	D	0.000004	D	0.93575	0.7949	L	0.27053	0.805	0.58432	D	0.999995	B	0.12013	0.005	B	0.15484	0.013	D	0.88675	0.3198	10	0.59425	D	0.04	.	20.2187	0.98312	0.0:0.0:1.0:0.0	.	194	Q07889	SOS1_HUMAN	F	194;194;194;194;137	ENSP00000387784:S194F;ENSP00000384675:S194F;ENSP00000378479:S194F;ENSP00000399992:S137F	ENSP00000263879:S194F	S	-	2	0	SOS1	39135398	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.200000	0.51051	2.780000	0.95670	0.655000	0.94253	TCC		0.284	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633		A	39281894	G	A	39281894	3	1	671	1	0	0	0	0	1	0	0	0	14942	1174	41	2	3496	2	SOS1	2	39281894	Missense_Mutation	SNP	G	TCGA-HE-7130-01A-11D-1961-08	6655315	39281894	203917479	27	36782											
ACTR2	10097	hgsc.bcm.edu	37	2	65492181	65492181	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr2:65492181G>A	ENST00000260641.5	+	8	1043	c.886G>A	c.(886-888)Gaa>Aaa	p.E296K	ACTR2_ENST00000542850.1_Missense_Mutation_p.E241K|ACTR2_ENST00000377982.4_Missense_Mutation_p.E301K	NM_005722.3	NP_005713.1	P61160	ARP2_HUMAN	ARP2 actin-related protein 2 homolog (yeast)	296					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						TTCTAGATCTGAATTCTACAA	0.428																																																0													179	168	171					2																	65492181		2203	4300	6503	SO:0001583	missense	10097			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.886G>A	chr2.hg19:g.65492181G>A	ENSP00000260641:p.Glu296Lys		B2RCP5|D6W5F4|E9PF41|O15142|Q96C82	Missense_Mutation	SNP	ENST00000260641.5	hg19	CCDS1881.1	.	.	.	.	.	.	.	.	.	.	G	18.95	3.731091	0.69189	.	.	ENSG00000138071	ENST00000260641;ENST00000542850;ENST00000377982;ENST00000535303	D;D;D	0.94576	-3.46;-3.46;-3.46	5.98	5.1	0.69264	.	0.120167	0.53938	U	0.000057	D	0.93841	0.8030	M	0.70275	2.135	0.58432	D	0.999999	B;B;B	0.13594	0.005;0.008;0.004	B;B;B	0.13407	0.009;0.007;0.007	D	0.91169	0.4967	10	0.62326	D	0.03	-23.7201	17.2991	0.87177	0.0:0.1254:0.8746:0.0	.	241;296;301	F5H6T1;P61160;E9PF41	.;ARP2_HUMAN;.	K	296;241;301;241	ENSP00000260641:E296K;ENSP00000437383:E241K;ENSP00000367220:E301K	ENSP00000260641:E296K	E	+	1	0	ACTR2	65345685	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	9.476000	0.97823	1.525000	0.49052	0.591000	0.81541	GAA		0.428	ACTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251730.1	NM_001005386		A	65492181	G	A	65492181	3	1	671	1	0	0	0	0	1	0	0	0	211	1291	45	2	935	2	ACTR2	2	65492181	Missense_Mutation	SNP	G	TCGA-HE-7130-01A-11D-1961-08	26210287	65492181	177707192	28	36783											
CNGA3	1261	hgsc.bcm.edu	37	2	99012521	99012522	+	Frame_Shift_Ins	INS	-	-	GT			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr2:99012521_99012522insGT	ENST00000272602.2	+	7	927_928	c.888_889insGT	c.(889-891)tacfs	p.Y297fs	CNGA3_ENST00000436404.2_Frame_Shift_Ins_p.Y279fs|CNGA3_ENST00000393504.1_Frame_Shift_Ins_p.Y297fs|CNGA3_ENST00000409937.1_Frame_Shift_Ins_p.Y301fs			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	297					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						CAAGGACCAACTACCCCAATAT	0.45																																																0																																										SO:0001589	frameshift_variant	1261			S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	Exception_encountered	chr2.hg19:g.99012521_99012522insGT	ENSP00000272602:p.Tyr297fs		E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Frame_Shift_Ins	INS	ENST00000272602.2	hg19	CCDS2034.1																																																																																				0.45	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	NM_001298		GT	99012522	-	GT	99012521	7	5	671	1	0	1	1	0	0	0	0	0	3600	564	20	0	914	0	CNGA3	2	99012521	Frame_Shift_Ins	INS	-	TCGA-HE-7130-01A-11D-1961-08	33520340	99012521	144186852	29	36784											
FSIP2	401024	hgsc.bcm.edu	37	2	186678413	186678413	+	Missense_Mutation	SNP	A	A	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr2:186678413A>T	ENST00000424728.1	+	18	19969	c.19969A>T	c.(19969-19971)Ata>Tta	p.I6657L	FSIP2_ENST00000343098.5_Missense_Mutation_p.I6746L			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	6657										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						GGAAAATTACATAAAAGAGGA	0.308																																																0													60	58	59					2																	186678413		1815	4082	5897	SO:0001583	missense	401024			AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.19969A>T	chr2.hg19:g.186678413A>T	ENSP00000401306:p.Ile6657Leu		Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	ENST00000424728.1	hg19		.	.	.	.	.	.	.	.	.	.	A	8.432	0.848829	0.17034	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.39787	1.06;1.07	4.74	-6.09	0.02145	.	2.291920	0.01415	N	0.014178	T	0.16557	0.0398	N	0.03608	-0.345	0.09310	N	1	.	.	.	.	.	.	T	0.11567	-1.0582	8	0.17369	T	0.5	.	5.0483	0.14496	0.3028:0.0:0.4212:0.2761	.	.	.	.	L	6746;6657	ENSP00000344403:I6746L;ENSP00000401306:I6657L	ENSP00000344403:I6746L	I	+	1	0	FSIP2	186386658	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.003000	0.13083	-1.474000	0.01879	-1.412000	0.01120	ATA		0.308	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651		T	186678413	A	T	186678413	3	4	671	1	0	0	0	0	1	0	0	0	6077	217	8	5	20306	5	FSIP2	2	186678413	Missense_Mutation	SNP	A	TCGA-HE-7130-01A-11D-1961-08	87665892	186678413	56520960	30	36785											
MSTN	2660	hgsc.bcm.edu	37	2	190922196	190922196	+	Missense_Mutation	SNP	C	C	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr2:190922196C>T	ENST00000260950.4	-	3	1048	c.916G>A	c.(916-918)Gcc>Acc	p.A306T	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	306					cellular response to dexamethasone stimulus (GO:0071549)|muscle organ development (GO:0007517)|negative regulation of muscle hypertrophy (GO:0014741)|negative regulation of skeletal muscle tissue growth (GO:0048632)|ovulation cycle process (GO:0022602)|positive regulation of transcription, DNA-templated (GO:0045893)|response to electrical stimulus (GO:0051602)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gravity (GO:0009629)|response to heat (GO:0009408)|response to muscle activity (GO:0014850)|response to testosterone (GO:0033574)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue regeneration (GO:0043403)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			CAGTAATTGGCCTTATATCTT	0.423																																																0													85	83	84					2																	190922196		2203	4300	6503	SO:0001583	missense	2660			AF019627	CCDS2303.1	2q32.1	2014-09-17	2007-06-21	2007-06-21	ENSG00000138379	ENSG00000138379			4223	protein-coding gene	gene with protein product		601788	"growth differentiation factor 8"	GDF8		9288100, 10610713, 17003236	Standard	NM_005259		Approved		uc002urp.3	O14793	OTTHUMG00000132663	ENST00000260950.4:c.916G>A	chr2.hg19:g.190922196C>T	ENSP00000260950:p.Ala306Thr		A1C2J7|A1C2K0|Q6B0H2	Missense_Mutation	SNP	ENST00000260950.4	hg19	CCDS2303.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.497799	0.85069	.	.	ENSG00000138379	ENST00000260950	D	0.86497	-2.13	5.79	5.79	0.91817	Transforming growth factor beta, conserved site (1);Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.95604	0.8571	H	0.94886	3.595	0.80722	D	1	P	0.48089	0.905	D	0.65140	0.932	D	0.96037	0.9021	10	0.87932	D	0	-9.1744	20.0308	0.97536	0.0:1.0:0.0:0.0	.	306	O14793	GDF8_HUMAN	T	306	ENSP00000260950:A306T	ENSP00000260950:A306T	A	-	1	0	MSTN	190630441	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.732000	0.93576	0.585000	0.79938	GCC		0.423	MSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255917.2	NM_005259		T	190922196	C	T	190922196	3	4	671	1	0	0	0	0	1	0	0	0	9895	739	26	2	215	2	MSTN	2	190922196	Missense_Mutation	SNP	C	TCGA-HE-7130-01A-11D-1961-08	4243783	190922196	52277177	31	36786											
KIF1A	547	hgsc.bcm.edu	37	2	241661280	241661280	+	Missense_Mutation	SNP	T	T	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr2:241661280T>C	ENST00000320389.7	-	42	4542	c.4384A>G	c.(4384-4386)Aca>Gca	p.T1462A	KIF1A_ENST00000498729.2_Missense_Mutation_p.T1563A	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	1462					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)		CTGTTGAATGTGTGCGTGAGC	0.657																																																0													75	81	79					2																	241661280		2148	4248	6396	SO:0001583	missense	547			AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"Kinesins", "Pleckstrin homology (PH) domain containing"	888	protein-coding gene	gene with protein product		601255	"axonal transport of synaptic vesicles", "chromosome 2 open reading frame 20", "spastic paraplegia 30 (autosomal recessive)"	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.4384A>G	chr2.hg19:g.241661280T>C	ENSP00000322791:p.Thr1462Ala		B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	hg19	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	T	14.75	2.630002	0.46944	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308	T;T	0.72167	-0.55;-0.63	4.33	3.14	0.36123	.	0.120608	0.53938	U	0.000050	T	0.64483	0.2602	L	0.46157	1.445	0.41290	D	0.986977	P;B	0.39737	0.685;0.032	P;B	0.46299	0.511;0.014	T	0.57159	-0.7859	10	0.08599	T	0.76	.	9.5613	0.39371	0.165:0.0:0.0:0.835	.	1563;1462	F5H045;Q12756	.;KIF1A_HUMAN	A	1462;1563;1571	ENSP00000322791:T1462A;ENSP00000438388:T1563A	ENSP00000322791:T1462A	T	-	1	0	KIF1A	241309953	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	1.446000	0.35090	0.517000	0.28361	0.528000	0.53228	ACA		0.657	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		C	241661280	T	C	241661280	3	2	671	1	0	0	0	0	1	0	0	0	8285	1696	59	3	712	3	KIF1A	2	241661280	Missense_Mutation	SNP	T	TCGA-HE-7130-01A-11D-1961-08	50739084	241661280	1538093	32	36787											
OXSM	54995	hgsc.bcm.edu	37	3	25833175	25833175	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr3:25833175delT	ENST00000280701.3	+	2	763	c.664delT	c.(664-666)tttfs	p.F222fs	OXSM_ENST00000449808.1_Intron|NGLY1_ENST00000417874.2_5'Flank|OXSM_ENST00000420173.2_Frame_Shift_Del_p.F222fs	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	222					acyl-CoA metabolic process (GO:0006637)|medium-chain fatty acid biosynthetic process (GO:0051792)|short-chain fatty acid biosynthetic process (GO:0051790)	mitochondrion (GO:0005739)	3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						CTCATTTAGATTTATAGCCCA	0.498																																																0													121	119	120					3																	25833175		2203	4300	6503	SO:0001589	frameshift_variant	54995			BC008202	CCDS2643.1, CCDS46780.1	3p24.2	2010-03-19			ENSG00000151093	ENSG00000151093	2.3.1.41		26063	protein-coding gene	gene with protein product	"beta-ketoacyl synthase"	610324				12477932	Standard	NM_017897		Approved	KS, FLJ20604, FASN2D	uc003cdn.3	Q9NWU1	OTTHUMG00000130477	ENST00000280701.3:c.664delT	chr3.hg19:g.25833175delT	ENSP00000280701:p.Phe222fs			Frame_Shift_Del	DEL	ENST00000280701.3	hg19	CCDS2643.1																																																																																				0.498	OXSM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252876.2	NM_017897		-	25833175	T	-	25833175	7	5	671	1	0	1	0	1	0	0	0	0	11337	1493	52	0	666	0	OXSM	3	25833175	Frame_Shift_Del	DEL	T	TCGA-HE-7130-01A-11D-1961-08		25833175	172189255	33	36788											
SEMA3F	6405	hgsc.bcm.edu	37	3	50220896	50220896	+	Missense_Mutation	SNP	G	G	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr3:50220896G>C	ENST00000002829.3	+	12	1616	c.1132G>C	c.(1132-1134)Gat>Cat	p.D378H	SEMA3F_ENST00000413852.1_Missense_Mutation_p.D279H|SEMA3F_ENST00000434342.1_Missense_Mutation_p.D347H	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	378	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				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)		CTCCATGGCTGATATTCGCAT	0.632																																																0													86	74	78					3																	50220896		2203	4300	6503	SO:0001583	missense	6405			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.1132G>C	chr3.hg19:g.50220896G>C	ENSP00000002829:p.Asp378His		C9JQ85|Q13274|Q13372|Q15704|Q6GTR4	Missense_Mutation	SNP	ENST00000002829.3	hg19	CCDS2811.1	.	.	.	.	.	.	.	.	.	.	G	32	5.151596	0.94645	.	.	ENSG00000001617	ENST00000450338;ENST00000413852;ENST00000002829;ENST00000434342	T;T;T;T	0.27720	1.65;1.65;1.65;1.65	5.45	5.45	0.79879	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.67590	0.2909	M	0.93720	3.45	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.981	T	0.77096	-0.2714	10	0.87932	D	0	.	18.8886	0.92389	0.0:0.0:1.0:0.0	.	347;378	C9JQ85;Q13275	.;SEM3F_HUMAN	H	347;279;378;347	ENSP00000398399:D347H;ENSP00000388931:D279H;ENSP00000002829:D378H;ENSP00000409859:D347H	ENSP00000002829:D378H	D	+	1	0	SEMA3F	50195900	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	9.651000	0.98493	2.542000	0.85734	0.511000	0.50034	GAT		0.632	SEMA3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345929.1	NM_004186		C	50220896	G	C	50220896	3	2	671	1	0	0	0	0	1	0	0	0	14035	1290	45	4	1174	4	SEMA3F	3	50220896	Missense_Mutation	SNP	G	TCGA-HE-7130-01A-11D-1961-08	24387721	50220896	147801534	34	36789											
CACNA2D3	55799	hgsc.bcm.edu	37	3	54930840	54930840	+	Silent	SNP	C	C	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr3:54930840C>A	ENST00000474759.1	+	26	2359	c.2311C>A	c.(2311-2313)Cga>Aga	p.R771R	CACNA2D3_ENST00000415676.2_Silent_p.R771R|CACNA2D3_ENST00000490478.1_Silent_p.R677R|CACNA2D3-AS1_ENST00000471265.1_RNA|CACNA2D3_ENST00000288197.5_Silent_p.R771R	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	771						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)	TCTCTGGTACCGAAGAGCCGC	0.527																																																0													120	121	120					3																	54930840		1968	4153	6121	SO:0001819	synonymous_variant	55799			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.2311C>A	chr3.hg19:g.54930840C>A			B2RPL6|Q9NY16|Q9NY18	Silent	SNP	ENST00000474759.1	hg19	CCDS54598.1																																																																																				0.527	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1			A	54930840	C	A	54930840	2	1	671	1	0	0	0	0	0	0	0	1	2552	644	23	4		4	CACNA2D3	3	54930840	Silent	SNP	C	TCGA-HE-7130-01A-11D-1961-08	4709944	54930840	143091590	35	36790											
CCDC80	151887	hgsc.bcm.edu	37	3	112324296	112324296	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr3:112324296G>A	ENST00000206423.3	-	8	3774	c.2821C>T	c.(2821-2823)Cat>Tat	p.H941Y	CCDC80_ENST00000439685.2_Missense_Mutation_p.H941Y	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	941					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						TAACTCTCATGATGACGGTAG	0.483																																																0													97	89	92					3																	112324296		2203	4300	6503	SO:0001583	missense	151887			AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"steroid sensitive gene 1"	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.2821C>T	chr3.hg19:g.112324296G>A	ENSP00000206423:p.His941Tyr		D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Missense_Mutation	SNP	ENST00000206423.3	hg19	CCDS2968.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.211797	0.79240	.	.	ENSG00000091986	ENST00000206423;ENST00000439685;ENST00000444594	T;T	0.52754	0.65;0.65	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.37571	0.1008	N	0.19112	0.55	0.46317	D	0.998989	B;B	0.31931	0.347;0.236	B;B	0.26416	0.069;0.031	T	0.29058	-1.0024	10	0.87932	D	0	-20.2625	20.4324	0.99085	0.0:0.0:1.0:0.0	.	952;941	Q76M96-2;Q76M96	.;CCD80_HUMAN	Y	941;941;542	ENSP00000206423:H941Y;ENSP00000411814:H941Y	ENSP00000206423:H941Y	H	-	1	0	CCDC80	113806986	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.764000	0.74960	2.833000	0.97629	0.585000	0.79938	CAT		0.483	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	NM_199511		A	112324296	G	A	112324296	3	1	671	1	0	0	0	0	1	0	0	0	2856	1290	45	2	35	2	CCDC80	3	112324296	Missense_Mutation	SNP	G	TCGA-HE-7130-01A-11D-1961-08	57393456	112324296	85698134	36	36791											
KALRN	8997	hgsc.bcm.edu	37	3	124103778	124103778	+	Missense_Mutation	SNP	G	G	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr3:124103778G>C	ENST00000240874.3	+	11	2008	c.1851G>C	c.(1849-1851)aaG>aaC	p.K617N	KALRN_ENST00000460856.1_Missense_Mutation_p.K617N|KALRN_ENST00000360013.3_Missense_Mutation_p.K617N	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	617					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						AGATCTACAAGGCAGCTCGAC	0.567																																																0													108	88	95					3																	124103778		2203	4300	6503	SO:0001583	missense	8997			U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	4814	protein-coding gene	gene with protein product	"serine/threonine kinase with Dbl and pleckstrin homology domains"	604605	"huntingtin-associated protein interacting protein (duo)"	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.1851G>C	chr3.hg19:g.124103778G>C	ENSP00000240874:p.Lys617Asn		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	hg19	CCDS3027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.01|15.01	2.706440|2.706440	0.48412|0.48412	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013;ENST00000439170|ENST00000354186	T;T;T;T|.	0.41758|.	0.99;0.99;0.99;0.99|.	5.0|5.0	4.09|4.09	0.47781|0.47781	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.38214|0.38214	0.1032|0.1032	N|N	0.21373|0.21373	0.66|0.66	0.80722|0.80722	D|D	1|1	P;P;P|.	0.48089|.	0.542;0.905;0.486|.	B;P;B|.	0.50314|.	0.388;0.637;0.268|.	T|T	0.15065|0.15065	-1.0450|-1.0450	10|5	0.18276|.	T|.	0.48|.	.|.	5.048|5.048	0.14494|0.14494	0.4066:0.0:0.5934:0.0|0.4066:0.0:0.5934:0.0	.|.	617;617;617|.	C9IZQ6;O60229;O60229-2|.	.;KALRN_HUMAN;.|.	N|T	617;617;617;93|595	ENSP00000418611:K617N;ENSP00000240874:K617N;ENSP00000353109:K617N;ENSP00000402950:K93N|.	ENSP00000240874:K617N|.	K|R	+|+	3|2	2|0	KALRN|KALRN	125586468|125586468	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.890000|1.890000	0.39728|0.39728	1.232000|1.232000	0.43678|0.43678	0.563000|0.563000	0.77884|0.77884	AAG|AGG		0.567	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		C	124103778	G	C	124103778	3	2	671	1	0	0	0	0	1	0	0	0	7977	991	35	4	1893	4	KALRN	3	124103778	Missense_Mutation	SNP	G	TCGA-HE-7130-01A-11D-1961-08	11779482	124103778	73918652	37	36792											
MME	4311	hgsc.bcm.edu	37	3	154860114	154860114	+	Missense_Mutation	SNP	C	C	A	rs201459271		TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr3:154860114C>A	ENST00000460393.1	+	12	1303	c.1183C>A	c.(1183-1185)Cgc>Agc	p.R395S	MME_ENST00000360490.2_Missense_Mutation_p.R395S|MME_ENST00000462745.1_Missense_Mutation_p.R395S|MME_ENST00000492661.1_Missense_Mutation_p.R395S|MME_ENST00000493237.1_Missense_Mutation_p.R395S	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	395					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	AAATGCTTTCCGCAAGGTGAA	0.378																																																0													61	64	63					3																	154860114		2203	4300	6503	SO:0001583	missense	4311				CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"CD molecules"	7154	protein-coding gene	gene with protein product	"neutral endopeptidase", "enkephalinase", "neprilysin"	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.1183C>A	chr3.hg19:g.154860114C>A	ENSP00000418525:p.Arg395Ser		A8K6U6|D3DNJ9|Q3MIX4	Missense_Mutation	SNP	ENST00000460393.1	hg19	CCDS3172.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.067486	0.76301	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000462745;ENST00000493237;ENST00000360490	T;T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74;-0.74	5.93	5.93	0.95920	Peptidase M13 (1);Metallopeptidase, catalytic domain (1);	0.053836	0.64402	D	0.000001	T	0.81851	0.4910	L	0.43152	1.355	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.82356	-0.0498	10	0.66056	D	0.02	-16.1723	15.1001	0.72269	0.1416:0.8584:0.0:0.0	.	395	P08473	NEP_HUMAN	S	395	ENSP00000420389:R395S;ENSP00000418525:R395S;ENSP00000419653:R395S;ENSP00000417079:R395S;ENSP00000353679:R395S	ENSP00000353679:R395S	R	+	1	0	MME	156342808	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.296000	0.72751	2.803000	0.96430	0.585000	0.79938	CGC		0.378	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902		A	154860114	C	A	154860114	3	1	671	1	0	0	0	0	1	0	0	0	9647	652	23	4	1225	4	MME	3	154860114	Missense_Mutation	SNP	C	TCGA-HE-7130-01A-11D-1961-08	30756336	154860114	43162316	38	36793											
TTC14	151613	hgsc.bcm.edu	37	3	180324303	180324303	+	Missense_Mutation	SNP	G	G	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr3:180324303G>C	ENST00000296015.4	+	9	1216	c.1084G>C	c.(1084-1086)Gaa>Caa	p.E362Q	TTC14_ENST00000412756.2_Missense_Mutation_p.E362Q|TTC14_ENST00000382584.4_Missense_Mutation_p.E362Q	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	362							RNA binding (GO:0003723)			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	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)			CAAAGCAATAGAAGATTTTGA	0.383																																																0													117	124	121					3																	180324303		2203	4300	6503	SO:0001583	missense	151613			AB075860	CCDS3237.1, CCDS46963.1, CCDS75055.1	3q27.2	2013-01-10			ENSG00000163728	ENSG00000163728		"Tetratricopeptide (TTC) repeat domain containing"	24697	protein-coding gene	gene with protein product						11853319	Standard	NM_001042601		Approved	FLJ00166, KIAA1980	uc003fkk.3	Q96N46	OTTHUMG00000157859	ENST00000296015.4:c.1084G>C	chr3.hg19:g.180324303G>C	ENSP00000296015:p.Glu362Gln		G5E9X0|Q6UWJ7|Q8TF22	Missense_Mutation	SNP	ENST00000296015.4	hg19	CCDS3237.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.396059	0.62177	.	.	ENSG00000163728	ENST00000296015;ENST00000412756;ENST00000382584	T;T;T	0.62232	0.04;0.04;0.04	5.93	5.93	0.95920	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.482695	0.24828	N	0.035263	T	0.64778	0.2629	L	0.42529	1.33	0.33985	D	0.648465	D;P;P	0.71674	0.998;0.787;0.912	P;B;P	0.55615	0.78;0.419;0.575	T	0.70063	-0.4975	10	0.30854	T	0.27	-20.8298	11.6377	0.51213	0.1367:0.0:0.8633:0.0	.	362;362;362	Q96N46-2;G5E9X0;Q96N46	.;.;TTC14_HUMAN	Q	362	ENSP00000296015:E362Q;ENSP00000413743:E362Q;ENSP00000372027:E362Q	ENSP00000296015:E362Q	E	+	1	0	TTC14	181806997	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.915000	0.48805	2.798000	0.96311	0.655000	0.94253	GAA		0.383	TTC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349786.1	NM_133462		C	180324303	G	C	180324303	3	2	671	1	0	0	0	0	1	0	0	0	16686	943	33	4	1118	4	TTC14	3	180324303	Missense_Mutation	SNP	G	TCGA-HE-7130-01A-11D-1961-08	25464189	180324303	17698127	39	36794											
CCDC39	339829	hgsc.bcm.edu	37	3	180337752	180337752	+	Missense_Mutation	SNP	G	G	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr3:180337752G>C	ENST00000442201.2	-	15	2124	c.2005C>G	c.(2005-2007)Caa>Gaa	p.Q669E	CCDC39_ENST00000273654.4_Intron	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	669					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)			TCTTTTTCTTGAGCAGCCTAT	0.383																																																0													64	53	57					3																	180337752		1829	4079	5908	SO:0001583	missense	339829			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.2005C>G	chr3.hg19:g.180337752G>C	ENSP00000405708:p.Gln669Glu		B4E2H1	Missense_Mutation	SNP	ENST00000442201.2	hg19	CCDS46964.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.263405	0.80358	.	.	ENSG00000145075	ENST00000442201	T	0.77620	-1.11	5.25	5.25	0.73442	.	.	.	.	.	D	0.87446	0.6179	M	0.83953	2.67	0.80722	D	1	D	0.71674	0.998	D	0.66602	0.945	D	0.84150	0.0422	9	0.13108	T	0.6	.	19.205	0.93726	0.0:0.0:1.0:0.0	.	669	Q9UFE4	CCD39_HUMAN	E	669	ENSP00000405708:Q669E	ENSP00000405708:Q669E	Q	-	1	0	CCDC39	181820446	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.762000	0.91711	2.596000	0.87737	0.563000	0.77884	CAA		0.383	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028		C	180337752	G	C	180337752	3	2	671	1	0	0	0	0	1	0	0	0	2813	1299	45	4	844	4	CCDC39	3	180337752	Missense_Mutation	SNP	G	TCGA-HE-7130-01A-11D-1961-08	13449	180337752	17684678	40	36795											
FGFR3	2261	hgsc.bcm.edu	37	4	1806099	1806099	+	Missense_Mutation	SNP	A	A	G	rs121913485		TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr4:1806099A>G	ENST00000260795.2	+	8	1220	c.1118A>G	c.(1117-1119)tAt>tGt	p.Y373C	FGFR3_ENST00000481110.2_Missense_Mutation_p.Y373C|FGFR3_ENST00000440486.2_Missense_Mutation_p.Y373C|FGFR3_ENST00000352904.1_Intron|FGFR3_ENST00000412135.2_Intron|FGFR3_ENST00000340107.4_Missense_Mutation_p.Y375C			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	373			Y -> C (in KERSEB and TD1; disulfide- linked dimer with constitutive kinase activation). {ECO:0000269|PubMed:10360402, ECO:0000269|PubMed:15772091, ECO:0000269|PubMed:8845844, ECO:0000269|PubMed:9207791}.		alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|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)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)	p.Y373C(395)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	GGCAGTGTGTATGCAGGCATC	0.682	Y373C(KMS11_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	1	"Mis, T"	"IGH@, ETV6"	"bladder, MM, T-cell lymphoma"		"Hypochondroplasia, Thanatophoric dysplasia"		Saethre-Chotzen syndrome;Muenke syndrome																														Dom	yes		4	4p16.3	2261	fibroblast growth factor receptor 3	yes	"L, E"	395	Substitution - Missense(395)	urinary_tract(371)|skin(16)|haematopoietic_and_lymphoid_tissue(8)	GRCh37	CM960657	FGFR3	M	rs121913485						141	134	137					4																	1806099		2203	4300	6503	SO:0001583	missense	2261	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3690	protein-coding gene	gene with protein product		134934	"achondroplasia, thanatophoric dwarfism"	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.1118A>G	chr4.hg19:g.1806099A>G	ENSP00000260795:p.Tyr373Cys		D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Missense_Mutation	SNP	ENST00000260795.2	hg19	CCDS3353.1	.	.	.	.	.	.	.	.	.	.	a	12.61	1.990190	0.35131	.	.	ENSG00000068078	ENST00000481110;ENST00000340107;ENST00000440486;ENST00000260795	D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35	4.68	1.93	0.25924	.	0.343855	0.31061	N	0.008340	D	0.93148	0.7818	M	0.82517	2.595	0.80722	A	1	D;D;D	0.76494	0.992;0.994;0.999	D;P;D	0.72625	0.94;0.896;0.978	D	0.94049	0.7316	9	0.72032	D	0.01	.	8.9873	0.36001	0.7079:0.0:0.0:0.2921	.	375;373;373	P22607-2;P22607;F8W9L4	.;FGFR3_HUMAN;.	C	373;375;373;373	ENSP00000420533:Y373C;ENSP00000339824:Y375C;ENSP00000414914:Y373C;ENSP00000260795:Y373C	ENSP00000260795:Y373C	Y	+	2	0	FGFR3	1775897	0.999000	0.42202	0.495000	0.27527	0.084000	0.17831	4.274000	0.58921	0.715000	0.32103	0.379000	0.24179	TAT		0.682	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2	NM_000142		G	1806099	A	G	1806099	3	3	671	1	0	0	0	0	1	0	0	0	5869	449	16	3	1303	3	FGFR3	4	1806099	Missense_Mutation	SNP	A	TCGA-HE-7130-01A-11D-1961-08		1806099	189348177	41	36796											
FGFR3	2261	hgsc.bcm.edu	37	4	1807891	1807891	+	Missense_Mutation	SNP	G	G	C	rs28928868		TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr4:1807891G>C	ENST00000260795.2	+	13	2052	c.1950G>C	c.(1948-1950)aaG>aaC	p.K650N	FGFR3_ENST00000481110.2_Missense_Mutation_p.K651N|FGFR3_ENST00000440486.2_Missense_Mutation_p.K650N|FGFR3_ENST00000352904.1_Missense_Mutation_p.K538N|FGFR3_ENST00000412135.2_Missense_Mutation_p.K538N|FGFR3_ENST00000340107.4_Missense_Mutation_p.K652N			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	650	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		K -> E (in KERSEB, TD2, TGCT and bladder cancer samples; bladder transitional cell carcinoma; somatic mutation; constitutively activated kinase with impaired internalization and degradation, resulting in prolonged FGFR3 signaling). {ECO:0000269|PubMed:10471491, ECO:0000269|PubMed:15772091, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:19855393, ECO:0000269|PubMed:7773297, ECO:0000269|PubMed:9207791}.|K -> M (in KERSEB, ACH and TD1; constitutively activated kinase with impaired internalization and degradation, resulting in prolonged FGFR3 signaling). {ECO:0000269|PubMed:10671061, ECO:0000269|PubMed:15772091, ECO:0000269|PubMed:9207791}.|K -> Q (in hypochondroplasia and bladder cancer; in hypochondroplasia the form is milder than that seen in individuals with the K-540 or M-650 mutations; constitutively activated kinase). {ECO:0000269|PubMed:11055896, ECO:0000269|PubMed:11314002}.		alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|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)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	ACTACAAGAAGACGACCAACG	0.662		1	"Mis, T"	"IGH@, ETV6"	"bladder, MM, T-cell lymphoma"		"Hypochondroplasia, Thanatophoric dysplasia"		Saethre-Chotzen syndrome;Muenke syndrome																														Dom	yes		4	4p16.3	2261	fibroblast growth factor receptor 3	yes	"L, E"	0			GRCh37	CM002965|CM002966	FGFR3	M	rs28928868						31	32	31					4																	1807891		2203	4299	6502	SO:0001583	missense	2261	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3690	protein-coding gene	gene with protein product		134934	"achondroplasia, thanatophoric dwarfism"	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.1950G>C	chr4.hg19:g.1807891G>C	ENSP00000260795:p.Lys650Asn		D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Missense_Mutation	SNP	ENST00000260795.2	hg19	CCDS3353.1	.	.	.	.	.	.	.	.	.	.	g	13.74	2.328521	0.41197	.	.	ENSG00000068078	ENST00000481110;ENST00000340107;ENST00000440486;ENST00000412135;ENST00000260795;ENST00000352904	D;D;D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73;-1.73;-1.73	4.35	3.48	0.39840	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	0.86100	0.5852	L	0.53671	1.685	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;0.98;1.0;1.0	D	0.85665	0.1291	10	0.87932	D	0	.	5.6966	0.17859	0.3256:0.0:0.6744:0.0	.	652;538;650;651	P22607-2;P22607-3;P22607;F8W9L4	.;.;FGFR3_HUMAN;.	N	651;652;650;538;650;538	ENSP00000420533:K651N;ENSP00000339824:K652N;ENSP00000414914:K650N;ENSP00000412903:K538N;ENSP00000260795:K650N;ENSP00000231803:K538N	ENSP00000260795:K650N	K	+	3	2	FGFR3	1777689	1.000000	0.71417	1.000000	0.80357	0.396000	0.30629	2.106000	0.41835	2.127000	0.65507	0.448000	0.29417	AAG		0.662	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2	NM_000142		C	1807891	G	C	1807891	3	2	671	1	0	0	0	0	1	0	0	0	5869	933	33	4	2155	4	FGFR3	4	1807891	Missense_Mutation	SNP	G	TCGA-HE-7130-01A-11D-1961-08	1792	1807891	189346385	42	36797											
HOPX	84525	hgsc.bcm.edu	37	4	57514941	57514941	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr4:57514941G>A	ENST00000337881.7	-	3	823	c.167C>T	c.(166-168)gCa>gTa	p.A56V	HOPX_ENST00000556614.2_Missense_Mutation_p.A56V|HOPX_ENST00000555760.2_Missense_Mutation_p.A56V|HOPX_ENST00000381260.3_3'UTR|HOPX_ENST00000553379.2_Missense_Mutation_p.A56V|HOPX_ENST00000556376.2_Missense_Mutation_p.A56V|HOPX_ENST00000381255.3_Missense_Mutation_p.A56V|HOPX_ENST00000420433.1_Missense_Mutation_p.A74V|HOPX_ENST00000554144.1_3'UTR|HOPX_ENST00000317745.7_Missense_Mutation_p.A56V|HOPX_ENST00000508121.1_Missense_Mutation_p.A74V|HOPX_ENST00000503639.3_Missense_Mutation_p.A56V	NM_139212.3	NP_631958.1	Q9BPY8	HOP_HUMAN	HOP homeobox	56					heart development (GO:0007507)|histone deacetylation (GO:0016575)|lung alveolus development (GO:0048286)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of heart contraction (GO:0008016)|regulation of protein binding (GO:0043393)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(2)|lung(5)|skin(1)	8	Glioma(25;0.08)|all_neural(26;0.101)					CCGCCACTTTGCCAGGCGCTG	0.478																																																0													78	77	77					4																	57514941		2203	4300	6503	SO:0001583	missense	84525				CCDS3507.1, CCDS47062.1, CCDS54767.1	4q12	2011-06-20			ENSG00000171476	ENSG00000171476		"Homeoboxes / PRD class"	24961	protein-coding gene	gene with protein product	"homeobox only domain"	607275				12297045	Standard	NM_032495		Approved	LAGY, HOP, OB1, NECC1, SMAP31	uc003hbz.2	Q9BPY8	OTTHUMG00000128768	ENST00000337881.7:c.167C>T	chr4.hg19:g.57514941G>A	ENSP00000337330:p.Ala56Val		A8K0Z2|E9PB55|G3V294|Q8N0V6|Q96CI1	Missense_Mutation	SNP	ENST00000337881.7	hg19	CCDS3507.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.103343	0.76983	.	.	ENSG00000171476	ENST00000420433;ENST00000508121;ENST00000556376;ENST00000553379;ENST00000381255;ENST00000317745;ENST00000503639;ENST00000337881;ENST00000555760;ENST00000556614;ENST00000514890;ENST00000506661	D;D;D;D;D;D;D;D;D;D	0.97161	-4.27;-4.27;-4.27;-4.27;-4.27;-4.27;-4.27;-4.27;-4.27;-4.27	5.93	5.93	0.95920	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	.	.	.	.	D	0.98298	0.9436	.	.	.	0.80722	D	1	D;D	0.76494	0.999;0.995	D;D	0.69824	0.966;0.927	D	0.98808	1.0742	8	0.87932	D	0	.	15.8335	0.78778	0.0:0.0:1.0:0.0	.	74;56	E9PB55;Q9BPY8	.;HOP_HUMAN	V	74;74;56;56;56;56;56;56;56;56;56;56	ENSP00000396275:A74V;ENSP00000422175:A74V;ENSP00000451794:A56V;ENSP00000452340:A56V;ENSP00000370654:A56V;ENSP00000315198:A56V;ENSP00000424101:A56V;ENSP00000337330:A56V;ENSP00000452098:A56V;ENSP00000452003:A56V	ENSP00000315198:A56V	A	-	2	0	HOPX	57209698	1.000000	0.71417	0.996000	0.52242	0.528000	0.34623	5.302000	0.65733	2.818000	0.97014	0.591000	0.81541	GCA		0.478	HOPX-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250689.4			A	57514941	G	A	57514941	3	1	671	1	0	0	0	0	1	0	0	0	7287	1319	46	2	58	2	HOPX	4	57514941	Missense_Mutation	SNP	G	TCGA-HE-7130-01A-11D-1961-08	55707050	57514941	133639335	43	36798											
PLK4	10733	hgsc.bcm.edu	37	4	128813651	128813651	+	Missense_Mutation	SNP	G	G	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr4:128813651G>C	ENST00000270861.5	+	10	2444	c.2170G>C	c.(2170-2172)Gag>Cag	p.E724Q	PLK4_ENST00000507249.1_Missense_Mutation_p.E663Q|PLK4_ENST00000513090.1_Missense_Mutation_p.E692Q|PLK4_ENST00000515069.1_Missense_Mutation_p.E646Q|RNU6-583P_ENST00000516012.1_RNA|PLK4_ENST00000514379.1_Missense_Mutation_p.E683Q	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	724					centriole replication (GO:0007099)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of centriole replication (GO:0046601)|protein phosphorylation (GO:0006468)|trophoblast giant cell differentiation (GO:0060707)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						TGCTGATTTTGAGGTTTGGTT	0.318																																					Colon(135;508 1718 19061 31832 42879)											0													145	132	137					4																	128813651		2202	4300	6502	SO:0001583	missense	10733			Y13115	CCDS3735.1, CCDS54803.1, CCDS54804.1	4q27-q28	2013-01-18	2010-06-24	2004-01-28	ENSG00000142731	ENSG00000142731			11397	protein-coding gene	gene with protein product		605031	"serine/threonine kinase 18", "polo-like kinase 4 (Drosophila)"	STK18			Standard	NM_014264		Approved	Sak	uc003ifo.3	O00444	OTTHUMG00000133301	ENST00000270861.5:c.2170G>C	chr4.hg19:g.128813651G>C	ENSP00000270861:p.Glu724Gln		B2RAL0|B7Z837|B7Z8G7|Q8IYF0|Q96Q95|Q9UD84|Q9UDE2	Missense_Mutation	SNP	ENST00000270861.5	hg19	CCDS3735.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.561758	0.86335	.	.	ENSG00000142731	ENST00000270861;ENST00000515069;ENST00000513090;ENST00000507249;ENST00000514379	T;T;T;T;T	0.37058	1.22;1.22;1.22;1.22;1.22	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.66723	0.2818	M	0.86178	2.8	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.72239	-0.4351	10	0.87932	D	0	-7.7549	19.2043	0.93723	0.0:0.0:1.0:0.0	.	692;724	O00444-2;O00444	.;PLK4_HUMAN	Q	724;646;692;663;683	ENSP00000270861:E724Q;ENSP00000421774:E646Q;ENSP00000427554:E692Q;ENSP00000423412:E663Q;ENSP00000423582:E683Q	ENSP00000270861:E724Q	E	+	1	0	PLK4	129033101	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.502000	0.97981	2.536000	0.85505	0.313000	0.20887	GAG		0.318	PLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257095.3			C	128813651	G	C	128813651	3	2	671	1	0	0	0	0	1	0	0	0	12100	1291	45	4	2208	4	PLK4	4	128813651	Missense_Mutation	SNP	G	TCGA-HE-7130-01A-11D-1961-08	71298710	128813651	62340625	44	36799											
SLC6A19	340024	hgsc.bcm.edu	37	5	1216926	1216926	+	Missense_Mutation	SNP	G	G	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr5:1216926G>T	ENST00000304460.10	+	8	1095	c.1039G>T	c.(1039-1041)Ggg>Tgg	p.G347W		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	347					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)			CCTCATCAACGGGTTCGACCT	0.652																																																0													130	115	120					5																	1216926		2203	4300	6503	SO:0001583	missense	340024			AK096054	CCDS34130.1	5p15	2013-07-19			ENSG00000174358	ENSG00000174358		"Solute carriers"	27960	protein-coding gene	gene with protein product	"Hartnup disease"	608893					Standard	NM_001003841		Approved		uc003jbw.4	Q695T7	OTTHUMG00000161636	ENST00000304460.10:c.1039G>T	chr5.hg19:g.1216926G>T	ENSP00000305302:p.Gly347Trp		A8K446	Missense_Mutation	SNP	ENST00000304460.10	hg19	CCDS34130.1	.	.	.	.	.	.	.	.	.	.	G	10.26	1.301225	0.23650	.	.	ENSG00000174358	ENST00000304460	T	0.74421	-0.84	4.85	4.85	0.62838	.	0.546335	0.20606	N	0.089063	T	0.75376	0.3841	N	0.19112	0.55	0.09310	N	1	D	0.62365	0.991	P	0.62813	0.907	T	0.68637	-0.5356	10	0.38643	T	0.18	.	16.1221	0.81365	0.0:0.0:1.0:0.0	.	347	Q695T7	S6A19_HUMAN	W	347	ENSP00000305302:G347W	ENSP00000305302:G347W	G	+	1	0	SLC6A19	1269926	0.250000	0.23951	0.020000	0.16555	0.075000	0.17131	3.150000	0.50662	2.241000	0.73720	0.491000	0.48974	GGG		0.652	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365557.1	XM_291120		T	1216926	G	T	1216926	3	4	671	1	0	0	0	0	1	0	0	0	14688	1116	39	4	1069	4	SLC6A19	5	1216926	Missense_Mutation	SNP	G	TCGA-HE-7130-01A-11D-1961-08		1216926	179698334	45	36800											
CMYA5	202333	hgsc.bcm.edu	37	5	79027353	79027353	+	Missense_Mutation	SNP	C	C	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr5:79027353C>T	ENST00000446378.2	+	2	2796	c.2765C>T	c.(2764-2766)tCt>tTt	p.S922F		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	922					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)		GTCCATAGATCTCTAAATCTA	0.413																																																0													103	100	101					5																	79027353		1924	4135	6059	SO:0001583	missense	202333			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.2765C>T	chr5.hg19:g.79027353C>T	ENSP00000394770:p.Ser922Phe		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	hg19	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	C	7.587	0.669858	0.14776	.	.	ENSG00000164309	ENST00000446378	T	0.59502	0.26	5.54	2.7	0.31948	.	1.759930	0.02782	N	0.121104	T	0.67239	0.2872	M	0.78456	2.415	0.09310	N	1	D	0.56035	0.974	P	0.49752	0.621	T	0.40813	-0.9543	10	0.72032	D	0.01	.	4.9024	0.13781	0.178:0.5938:0.0:0.2282	.	922	Q8N3K9	CMYA5_HUMAN	F	922	ENSP00000394770:S922F	ENSP00000394770:S922F	S	+	2	0	CMYA5	79063109	0.035000	0.19736	0.003000	0.11579	0.048000	0.14542	0.437000	0.21543	0.358000	0.24211	-0.302000	0.09304	TCT		0.413	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		T	79027353	C	T	79027353	3	4	671	1	0	0	0	0	1	0	0	0	3592	913	32	2	2771	2	CMYA5	5	79027353	Missense_Mutation	SNP	C	TCGA-HE-7130-01A-11D-1961-08	77810427	79027353	101887907	46	36801			1	61		4	4	5227	N	G_C	2.160406e-06
CMYA5	202333	hgsc.bcm.edu	37	5	79031337	79031337	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr5:79031337G>A	ENST00000446378.2	+	2	6780	c.6749G>A	c.(6748-6750)aGa>aAa	p.R2250K		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2250					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)		GATGAACCCAGAGGTACTTTA	0.343																																																0													84	86	85					5																	79031337		1802	4075	5877	SO:0001583	missense	202333			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.6749G>A	chr5.hg19:g.79031337G>A	ENSP00000394770:p.Arg2250Lys		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	hg19	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	G	4.593	0.110236	0.08780	.	.	ENSG00000164309	ENST00000446378	T	0.15718	2.4	5.74	-0.131	0.13494	.	1.286200	0.05079	N	0.483194	T	0.15046	0.0363	L	0.48362	1.52	0.09310	N	1	B	0.14805	0.011	B	0.10450	0.005	T	0.33599	-0.9862	10	0.33940	T	0.23	.	4.6556	0.12615	0.2976:0.3196:0.3827:0.0	.	2250	Q8N3K9	CMYA5_HUMAN	K	2250	ENSP00000394770:R2250K	ENSP00000394770:R2250K	R	+	2	0	CMYA5	79067093	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	-0.363000	0.07593	0.328000	0.23435	0.650000	0.86243	AGA		0.343	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		A	79031337	G	A	79031337	3	1	671	1	0	0	0	0	1	0	0	0	3592	942	33	2	6755	2	CMYA5	5	79031337	Missense_Mutation	SNP	G	TCGA-HE-7130-01A-11D-1961-08	3984	79031337	101883923	47	36802			1	61		4	4	5227	N	G_C	2.160406e-06
CMYA5	202333	hgsc.bcm.edu	37	5	79031882	79031882	+	Missense_Mutation	SNP	G	G	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr5:79031882G>C	ENST00000446378.2	+	2	7325	c.7294G>C	c.(7294-7296)Gaa>Caa	p.E2432Q		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2432					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)		ACTCAAGAAAGAAATGCAAAA	0.333																																																0													38	38	38					5																	79031882		1818	4082	5900	SO:0001583	missense	202333			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.7294G>C	chr5.hg19:g.79031882G>C	ENSP00000394770:p.Glu2432Gln		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	hg19	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.484254	0.63962	.	.	ENSG00000164309	ENST00000446378	T	0.24723	1.84	5.87	4.09	0.47781	.	0.121012	0.37483	N	0.002068	T	0.37100	0.0991	M	0.71581	2.175	0.28279	N	0.924047	D	0.59767	0.986	P	0.53954	0.738	T	0.32877	-0.9890	10	0.66056	D	0.02	.	6.9428	0.24502	0.2444:0.0:0.7556:0.0	.	2432	Q8N3K9	CMYA5_HUMAN	Q	2432	ENSP00000394770:E2432Q	ENSP00000394770:E2432Q	E	+	1	0	CMYA5	79067638	0.992000	0.36948	0.963000	0.40424	0.963000	0.63663	1.287000	0.33284	1.493000	0.48517	0.655000	0.94253	GAA		0.333	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		C	79031882	G	C	79031882	3	2	671	1	0	0	0	0	1	0	0	0	3592	943	33	4	7300	4	CMYA5	5	79031882	Missense_Mutation	SNP	G	TCGA-HE-7130-01A-11D-1961-08	545	79031882	101883378	48	36803			1	61		4	4	5227	N	G_C	2.160406e-06
CMYA5	202333	hgsc.bcm.edu	37	5	79032579	79032579	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr5:79032579G>A	ENST00000446378.2	+	2	8022	c.7991G>A	c.(7990-7992)aGa>aAa	p.R2664K		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2664					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)		AAGTCAAGCAGAGATATGCCA	0.403																																																0													49	49	49					5																	79032579		1848	4092	5940	SO:0001583	missense	202333			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.7991G>A	chr5.hg19:g.79032579G>A	ENSP00000394770:p.Arg2664Lys		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	hg19	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	G	10.79	1.448897	0.26074	.	.	ENSG00000164309	ENST00000446378	T	0.36340	1.26	3.85	2.95	0.34219	.	.	.	.	.	T	0.25419	0.0618	L	0.34521	1.04	0.09310	N	1	B	0.26483	0.15	B	0.23419	0.046	T	0.17349	-1.0372	9	0.39692	T	0.17	.	6.834	0.23925	0.1396:0.0:0.8604:0.0	.	2664	Q8N3K9	CMYA5_HUMAN	K	2664	ENSP00000394770:R2664K	ENSP00000394770:R2664K	R	+	2	0	CMYA5	79068335	0.000000	0.05858	0.016000	0.15963	0.089000	0.18198	0.577000	0.23758	0.699000	0.31761	0.393000	0.25936	AGA		0.403	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		A	79032579	G	A	79032579	3	1	671	1	0	0	0	0	1	0	0	0	3592	942	33	2	7997	2	CMYA5	5	79032579	Missense_Mutation	SNP	G	TCGA-HE-7130-01A-11D-1961-08	697	79032579	101882681	49	36804			1	61		4	4	5227	N	G_C	2.160406e-06
VCAN	1462	hgsc.bcm.edu	37	5	82817031	82817031	+	Missense_Mutation	SNP	C	C	G			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr5:82817031C>G	ENST00000265077.3	+	7	3471	c.2906C>G	c.(2905-2907)tCt>tGt	p.S969C	VCAN_ENST00000512590.2_Missense_Mutation_p.S921C|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.S969C	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	969	GAG-alpha (glucosaminoglycan attachment domain).				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)	TATGTAGACTCTTCCCATACC	0.433																																																0													113	112	112					5																	82817031		2203	4300	6503	SO:0001583	missense	1462			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.2906C>G	chr5.hg19:g.82817031C>G	ENSP00000265077:p.Ser969Cys		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	hg19	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	C	10.39	1.337475	0.24253	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	T;T;T	0.20332	2.08;2.08;2.08	5.26	-0.324	0.12706	.	1.069220	0.07230	N	0.862281	T	0.21718	0.0523	L	0.44542	1.39	0.09310	N	1	P;P	0.51653	0.904;0.947	P;P	0.47981	0.563;0.453	T	0.19257	-1.0311	10	0.62326	D	0.03	.	4.5464	0.12083	0.0:0.4105:0.2996:0.29	.	969;969	P13611-3;P13611	.;CSPG2_HUMAN	C	969;969;921	ENSP00000265077:S969C;ENSP00000342768:S969C;ENSP00000425959:S921C	ENSP00000265077:S969C	S	+	2	0	VCAN	82852787	0.000000	0.05858	0.022000	0.16811	0.689000	0.40095	-0.838000	0.04372	-0.249000	0.09569	0.591000	0.81541	TCT		0.433	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		G	82817031	C	G	82817031	3	3	671	1	0	0	0	0	1	0	0	0	17143	913	32	4	2928	4	VCAN	5	82817031	Missense_Mutation	SNP	C	TCGA-HE-7130-01A-11D-1961-08	3784452	82817031	98098229	50	36805											
GRIA1	2890	hgsc.bcm.edu	37	5	153078520	153078520	+	Missense_Mutation	SNP	G	G	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr5:153078520G>C	ENST00000285900.5	+	10	1682	c.1339G>C	c.(1339-1341)Gcc>Ccc	p.A447P	GRIA1_ENST00000448073.4_Missense_Mutation_p.A457P|GRIA1_ENST00000518783.1_Missense_Mutation_p.A457P|GRIA1_ENST00000518142.1_Missense_Mutation_p.A367P|GRIA1_ENST00000340592.5_Missense_Mutation_p.A447P|GRIA1_ENST00000521843.2_Missense_Mutation_p.A378P	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	447					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)	GGCAGAGATTGCCAAGCACGT	0.537																																																0													115	102	106					5																	153078520		2203	4300	6503	SO:0001583	missense	2890				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.1339G>C	chr5.hg19:g.153078520G>C	ENSP00000285900:p.Ala447Pro		B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	hg19	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	G	34	5.344853	0.95807	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;D;T;T;T;D	0.81821	1.03;1.03;-1.54;1.03;1.03;1.03;-1.54	5.44	5.44	0.79542	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	D	0.93514	0.7930	H	0.96996	3.92	0.80722	D	1	D;D;D;D;D;D	0.71674	0.987;0.987;0.998;0.987;0.984;0.998	D;D;D;D;P;D	0.91635	0.931;0.931;0.999;0.931;0.887;0.984	D	0.95457	0.8539	10	0.87932	D	0	.	18.2393	0.89961	0.0:0.0:1.0:0.0	.	457;457;367;457;447;447	E7ESV8;B7Z9G9;B7Z3F6;B7Z2W8;P42261-2;P42261	.;.;.;.;.;GRIA1_HUMAN	P	447;447;367;401;447;378;378;457;457	ENSP00000285900:A447P;ENSP00000427920:A367P;ENSP00000339343:A447P;ENSP00000427864:A378P;ENSP00000442108:A378P;ENSP00000428994:A457P;ENSP00000415569:A457P	ENSP00000285900:A447P	A	+	1	0	GRIA1	153058713	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.640000	0.98453	2.548000	0.85928	0.655000	0.94253	GCC		0.537	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			C	153078520	G	C	153078520	3	2	671	1	0	0	0	0	1	0	0	0	6769	1319	46	4	1377	4	GRIA1	5	153078520	Missense_Mutation	SNP	G	TCGA-HE-7130-01A-11D-1961-08	70261489	153078520	27836740	51	36806											
SGCD	6444	hgsc.bcm.edu	37	5	156186311	156186311	+	Silent	SNP	C	C	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr5:156186311C>T	ENST00000435422.3	+	8	1267	c.780C>T	c.(778-780)ttC>ttT	p.F260F	SGCD_ENST00000337851.4_Silent_p.F261F	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	260					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)		p.F261L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGAAGGTCTTCGAGATCTGCG	0.488																																																1	Substitution - Missense(1)	lung(1)											130	125	127					5																	156186311		1968	4175	6143	SO:0001819	synonymous_variant	6444			BX537948	CCDS47325.1, CCDS47326.1, CCDS47327.1	5q33-q34	2014-09-17	2002-08-29						10807	protein-coding gene	gene with protein product		601411	"sarcoglycan, delta (35kD dystrophin-associated glycoprotein)"			8776597, 8841194, 10974018	Standard	NM_000337		Approved	DAGD, LGMD2F, CMD1L	uc003lwd.4	Q92629		ENST00000435422.3:c.780C>T	chr5.hg19:g.156186311C>T			A8K9S9|Q53XA5|Q99644	Silent	SNP	ENST00000435422.3	hg19	CCDS47327.1																																																																																				0.488	SGCD-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000373469.3			T	156186311	C	T	156186311	2	4	671	1	0	0	0	0	0	0	0	1	14207	883	31	1		1	SGCD	5	156186311	Silent	SNP	C	TCGA-HE-7130-01A-11D-1961-08	3107791	156186311	24728949	52	36807											
SYNE1	23345	hgsc.bcm.edu	37	6	152557320	152557320	+	Missense_Mutation	SNP	C	C	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr6:152557320C>T	ENST00000367255.5	-	110	20919	c.20318G>A	c.(20317-20319)gGa>gAa	p.G6773E	SYNE1_ENST00000341594.5_Missense_Mutation_p.G6385E|SYNE1_ENST00000356820.4_Missense_Mutation_p.G1297E|SYNE1_ENST00000265368.4_Missense_Mutation_p.G6773E|SYNE1_ENST00000423061.1_Missense_Mutation_p.G6702E|SYNE1_ENST00000448038.1_Missense_Mutation_p.G6702E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6773					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)		CCAGCACTCTCCAAGTTGATT	0.373										HNSCC(10;0.0054)																																						0													170	166	167					6																	152557320		2203	4300	6503	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.20318G>A	chr6.hg19:g.152557320C>T	ENSP00000356224:p.Gly6773Glu		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	hg19	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	12.94	2.087720	0.36855	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.50548	0.83;0.81;0.74;0.82;0.92;2.82	5.56	5.56	0.83823	.	0.000000	0.56097	D	0.000029	T	0.53498	0.1800	L	0.33710	1.025	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	0.55147	-0.8186	10	0.54805	T	0.06	.	19.5353	0.95251	0.0:1.0:0.0:0.0	.	6773;6773;6702	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	E	6773;6702;6773;6702;6385;1297	ENSP00000356224:G6773E;ENSP00000396024:G6702E;ENSP00000265368:G6773E;ENSP00000390975:G6702E;ENSP00000341887:G6385E;ENSP00000349276:G1297E	ENSP00000265368:G6773E	G	-	2	0	SYNE1	152599013	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	6.073000	0.71245	2.607000	0.88179	0.655000	0.94253	GGA		0.373	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		T	152557320	C	T	152557320	3	4	671	1	0	0	0	0	1	0	0	0	15450	855	30	2	6296	2	SYNE1	6	152557320	Missense_Mutation	SNP	C	TCGA-HE-7130-01A-11D-1961-08		152557320	18557747	53	36808											
SYNE1	23345	hgsc.bcm.edu	37	6	152560730	152560730	+	Missense_Mutation	SNP	G	G	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr6:152560730G>C	ENST00000367255.5	-	108	20606	c.20005C>G	c.(20005-20007)Cag>Gag	p.Q6669E	SYNE1_ENST00000341594.5_Missense_Mutation_p.Q6281E|SYNE1_ENST00000356820.4_Missense_Mutation_p.Q1193E|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q6669E|SYNE1_ENST00000423061.1_Missense_Mutation_p.Q6598E|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q6598E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6669					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)		GCAGAAGCCTGAGCCATCAGC	0.468										HNSCC(10;0.0054)																																						0													136	112	120					6																	152560730		2203	4300	6503	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.20005C>G	chr6.hg19:g.152560730G>C	ENSP00000356224:p.Gln6669Glu		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	hg19	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	2.493	-0.316916	0.05386	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.34859	1.34;1.34;1.34;1.34;1.34;1.34	5.7	4.81	0.61882	.	0.210406	0.33438	N	0.004910	T	0.14787	0.0357	L	0.36672	1.1	0.30220	N	0.796918	B;B;B	0.26876	0.101;0.101;0.162	B;B;B	0.22386	0.017;0.017;0.039	T	0.10428	-1.0630	10	0.66056	D	0.02	.	12.7363	0.57225	0.0:0.1256:0.7439:0.1305	.	6669;6669;6598	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	E	6669;6598;6669;6598;6281;1193	ENSP00000356224:Q6669E;ENSP00000396024:Q6598E;ENSP00000265368:Q6669E;ENSP00000390975:Q6598E;ENSP00000341887:Q6281E;ENSP00000349276:Q1193E	ENSP00000265368:Q6669E	Q	-	1	0	SYNE1	152602423	0.999000	0.42202	0.997000	0.53966	0.994000	0.84299	2.850000	0.48294	1.368000	0.46115	0.655000	0.94253	CAG		0.468	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		C	152560730	G	C	152560730	3	2	671	1	0	0	0	0	1	0	0	0	15450	1299	45	4	6617	4	SYNE1	6	152560730	Missense_Mutation	SNP	G	TCGA-HE-7130-01A-11D-1961-08	3410	152560730	18554337	54	36809											
SYNE1	23345	hgsc.bcm.edu	37	6	152730280	152730280	+	Missense_Mutation	SNP	C	C	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr6:152730280C>T	ENST00000367255.5	-	44	7064	c.6463G>A	c.(6463-6465)Gag>Aag	p.E2155K	SYNE1_ENST00000341594.5_Missense_Mutation_p.E2192K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E2155K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E2162K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E2162K|RNA5SP223_ENST00000365174.1_RNA	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2155					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)		TTCTTCAGCTCAGATAACAAG	0.383										HNSCC(10;0.0054)																																						0													147	142	143					6																	152730280		2203	4300	6503	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.6463G>A	chr6.hg19:g.152730280C>T	ENSP00000356224:p.Glu2155Lys		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	hg19	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	18.72	3.684114	0.68157	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.52295	1.38;1.38;1.38;1.38;0.67	5.57	5.57	0.84162	.	0.000000	0.64402	D	0.000013	T	0.49115	0.1538	M	0.61703	1.905	0.80722	D	1	D;D;D;D	0.58620	0.982;0.983;0.983;0.978	P;P;P;P	0.59424	0.791;0.678;0.678;0.857	T	0.46582	-0.9181	10	0.06891	T	0.86	.	19.5527	0.95328	0.0:1.0:0.0:0.0	.	2138;2155;2155;2162	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	K	2155;2162;2155;2162;2192	ENSP00000356224:E2155K;ENSP00000396024:E2162K;ENSP00000265368:E2155K;ENSP00000390975:E2162K;ENSP00000341887:E2192K	ENSP00000265368:E2155K	E	-	1	0	SYNE1	152771973	1.000000	0.71417	0.991000	0.47740	0.194000	0.23727	7.794000	0.85869	2.630000	0.89119	0.655000	0.94253	GAG		0.383	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		T	152730280	C	T	152730280	3	4	671	1	0	0	0	0	1	0	0	0	15450	835	29	2	20415	2	SYNE1	6	152730280	Missense_Mutation	SNP	C	TCGA-HE-7130-01A-11D-1961-08	169550	152730280	18384787	55	36810											
MLLT4	4301	hgsc.bcm.edu	37	6	168347543	168347543	+	Missense_Mutation	SNP	A	A	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr6:168347543A>C	ENST00000447894.2	+	26	3494	c.3494A>C	c.(3493-3495)aAa>aCa	p.K1165T	MLLT4_ENST00000392112.1_Missense_Mutation_p.K1148T|MLLT4_ENST00000507679.1_3'UTR|MLLT4_ENST00000351017.4_Missense_Mutation_p.K1172T|MLLT4_ENST00000366806.2_Missense_Mutation_p.K1165T|MLLT4_ENST00000344191.4_Missense_Mutation_p.K1165T|MLLT4_ENST00000400822.3_Missense_Mutation_p.K1164T|MLLT4_ENST00000392108.3_Missense_Mutation_p.K1165T			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1165					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)		AGACTGATGAAAAATAGAGCT	0.433			T	MLL	AL																																		Dom	yes		6	6q27	4301	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"		L	0													115	116	116					6																	168347543		2203	4300	6503	SO:0001583	missense	4301			AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.3494A>C	chr6.hg19:g.168347543A>C	ENSP00000404595:p.Lys1165Thr		O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	ENST00000447894.2	hg19		.	.	.	.	.	.	.	.	.	.	A	22.4	4.286695	0.80803	.	.	ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894	T;T;T;T;T;T;T	0.04970	3.73;3.62;3.72;3.71;3.52;3.62;3.62	5.36	4.19	0.49359	.	0.000000	0.85682	D	0.000000	T	0.12347	0.0300	M	0.73962	2.25	0.52501	D	0.999956	P;D;P;P	0.67145	0.586;0.996;0.817;0.843	B;D;B;P	0.63703	0.263;0.917;0.345;0.63	T	0.00800	-1.1561	10	0.59425	D	0.04	-31.0185	11.4921	0.50387	0.929:0.0:0.071:0.0	.	1165;1164;1165;1149	P55196;P55196-5;P55196-6;P55196-2	AFAD_HUMAN;.;.;.	T	1165;1172;1165;1165;1148;1165;1164;1165	ENSP00000341118:K1165T;ENSP00000252692:K1172T;ENSP00000375956:K1165T;ENSP00000355771:K1165T;ENSP00000375960:K1148T;ENSP00000383623:K1164T;ENSP00000404595:K1165T	ENSP00000345834:K1165T	K	+	2	0	MLLT4	168090392	1.000000	0.71417	0.812000	0.32479	0.904000	0.53231	8.548000	0.90669	0.965000	0.38133	0.533000	0.62120	AAA		0.433	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		C	168347543	A	C	168347543	3	2	671	1	0	0	0	0	1	0	0	0	9631	14	1	5	3596	5	MLLT4	6	168347543	Missense_Mutation	SNP	A	TCGA-HE-7130-01A-11D-1961-08	15617263	168347543	2767524	56	36811											
SBDS	51119	hgsc.bcm.edu	37	7	66456129	66456129	+	Missense_Mutation	SNP	C	C	G			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr7:66456129C>G	ENST00000246868.2	-	4	802	c.619G>C	c.(619-621)Gaa>Caa	p.E207Q		NM_016038.2	NP_057122.2	Q9Y3A5	SBDS_HUMAN	Shwachman-Bodian-Diamond syndrome	207					bone marrow development (GO:0048539)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|inner cell mass cell proliferation (GO:0001833)|leukocyte chemotaxis (GO:0030595)|mature ribosome assembly (GO:0042256)|mitotic spindle stabilization (GO:0043148)|ribosomal large subunit biogenesis (GO:0042273)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|rRNA binding (GO:0019843)			cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						CTTACGATTTCTAACTGTTGG	0.353			Gene Conversion			"AML, MDS"			Shwachman-Diamond syndrome																													yes	Rec		Schwachman-Diamond syndrome	7	7q11	51119	Shwachman-Bodian-Diamond syndrome protein		L	0													150	125	133					7																	66456129		2203	4300	6503	SO:0001583	missense	51119	Familial Cancer Database	Shwachman syndrome, Shwachman-Bodian syndrome, Congenital Lipomatosis of the Pancreas	AF151855	CCDS5537.1	7q11.22	2014-09-17			ENSG00000126524	ENSG00000126524			19440	protein-coding gene	gene with protein product		607444				12496757	Standard	NM_016038		Approved	CGI-97, FLJ10917, SDS, SWDS	uc003tvm.1	Q9Y3A5	OTTHUMG00000023165	ENST00000246868.2:c.619G>C	chr7.hg19:g.66456129C>G	ENSP00000246868:p.Glu207Gln		A8K0P4|Q96FX0|Q9NV53	Missense_Mutation	SNP	ENST00000246868.2	hg19	CCDS5537.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.189067	0.78789	.	.	ENSG00000126524	ENST00000246868	D	0.96745	-4.11	5.04	5.04	0.67666	Ribosome maturation protein SBDS, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96929	0.8997	M	0.87381	2.88	0.80722	D	1	P	0.37594	0.601	P	0.44394	0.448	D	0.96222	0.9161	10	0.30854	T	0.27	-19.3899	15.9306	0.79656	0.0:1.0:0.0:0.0	.	207	Q9Y3A5	SBDS_HUMAN	Q	207	ENSP00000246868:E207Q	ENSP00000246868:E207Q	E	-	1	0	SBDS	66093564	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	6.965000	0.76067	2.641000	0.89580	0.555000	0.69702	GAA		0.353	SBDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251746.2	NM_016038		G	66456129	C	G	66456129	3	3	671	1	0	0	0	0	1	0	0	0	13863	922	32	4	141	4	SBDS	7	66456129	Missense_Mutation	SNP	C	TCGA-HE-7130-01A-11D-1961-08		66456129	92682534	57	36812											
COL1A2	1278	hgsc.bcm.edu	37	7	94035021	94035021	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr7:94035021G>A	ENST00000297268.6	+	11	994	c.523G>A	c.(523-525)Ggc>Agc	p.G175S		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	175					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)	TGGACTTCCTGGCTTCAAAGG	0.373										HNSCC(75;0.22)																																						0													158	155	156					7																	94035021		2203	4299	6502	SO:0001583	missense	1278			Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"Collagens"	2198	protein-coding gene	gene with protein product	"alpha 2(I)-collagen", "alpha-2 collagen type I", "type I procollagen", "collagen I, alpha-2 polypeptide", "collagen of skin, tendon and bone, alpha-2 chain"	120160	"osteogenesis imperfecta type IV"	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.523G>A	chr7.hg19:g.94035021G>A	ENSP00000297268:p.Gly175Ser		P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	hg19	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.343237	0.82022	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.93659	-3.26	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	D	0.98330	0.9446	H	0.98833	4.345	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99501	1.0953	10	0.87932	D	0	.	19.1584	0.93520	0.0:0.0:1.0:0.0	.	175	P08123	CO1A2_HUMAN	S	175;176	ENSP00000297268:G175S	ENSP00000297268:G175S	G	+	1	0	COL1A2	93872957	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	9.420000	0.97426	2.697000	0.92050	0.591000	0.81541	GGC		0.373	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		A	94035021	G	A	94035021	3	1	671	1	0	0	0	0	1	0	0	0	3680	1348	47	2	565	2	COL1A2	7	94035021	Missense_Mutation	SNP	G	TCGA-HE-7130-01A-11D-1961-08	27578892	94035021	65103642	58	36813											
PCM1	5108	hgsc.bcm.edu	37	8	17885162	17885162	+	Missense_Mutation	SNP	G	G	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr8:17885162G>C	ENST00000519253.1	+	39	6293	c.6042G>C	c.(6040-6042)caG>caC	p.Q2014H	PCM1_ENST00000524226.1_Missense_Mutation_p.Q1858H|PCM1_ENST00000325083.8_Missense_Mutation_p.Q2022H|PCM1_ENST00000327578.8_Missense_Mutation_p.Q721H			Q15154	PCM1_HUMAN	pericentriolar material 1	2022	Interaction with BBS4.				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)		TGGGAGCCCAGAGTATATGAG	0.303			T	"RET, JAK2"	"papillary thyroid, CML, MPD"																																		Dom	yes		8	8p22-p21.3	5108	pericentriolar material 1  (PTC4)		"E, L"	0													52	51	51					8																	17885162		1794	4062	5856	SO:0001583	missense	5108				CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000519253.1:c.6042G>C	chr8.hg19:g.17885162G>C	ENSP00000431099:p.Gln2014His		Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Missense_Mutation	SNP	ENST00000519253.1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.24|10.24	1.296731|1.296731	0.23650|0.23650	.|.	.|.	ENSG00000078674|ENSG00000078674	ENST00000325083;ENST00000519253;ENST00000524226;ENST00000327578|ENST00000522275	T;T;T;T|.	0.22945|.	3.3;3.3;3.0;1.93|.	5.51|5.51	-6.77|-6.77	0.01727|0.01727	.|.	0.261946|.	0.40302|.	N|.	0.001133|.	T|T	0.25195|0.25195	0.0612|0.0612	N|N	0.20986|0.20986	0.625|0.625	0.29276|0.29276	N|N	0.870346|0.870346	B;B;B;B;B;B;B|.	0.06786|.	0.001;0.001;0.001;0.001;0.001;0.001;0.001|.	B;B;B;B;B;B;B|.	0.08055|.	0.003;0.003;0.003;0.003;0.003;0.003;0.003|.	T|T	0.35101|0.35101	-0.9802|-0.9802	10|5	0.87932|.	D|.	0|.	-2.5298|-2.5298	8.8371|8.8371	0.35119|0.35119	0.2748:0.2274:0.4978:0.0|0.2748:0.2274:0.4978:0.0	.|.	2014;2022;821;2014;1967;1858;2022|.	B9EIS5;D3DSQ0;B4DJ00;E7ETA6;Q15154-2;E7EV56;Q15154|.	.;.;.;.;.;.;PCM1_HUMAN|.	H|T	2022;2014;1858;721|762	ENSP00000327077:Q2022H;ENSP00000431099:Q2014H;ENSP00000430521:Q1858H;ENSP00000328332:Q721H|.	ENSP00000327077:Q2022H|.	Q|R	+|+	3|2	2|0	PCM1|PCM1	17929442|17929442	0.944000|0.944000	0.32072|0.32072	0.012000|0.012000	0.15200|0.15200	0.629000|0.629000	0.37895|0.37895	-0.012000|-0.012000	0.12699|0.12699	-1.249000|-1.249000	0.02500|0.02500	-0.302000|-0.302000	0.09304|0.09304	CAG|AGA		0.303	PCM1-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374800.1	NM_006197		C	17885162	G	C	17885162	3	2	671	1	0	0	0	0	1	0	0	0	11586	933	33	4	6212	4	PCM1	8	17885162	Missense_Mutation	SNP	G	TCGA-HE-7130-01A-11D-1961-08		17885162	128478860	59	36814											
EBF2	64641	hgsc.bcm.edu	37	8	25890622	25890622	+	Missense_Mutation	SNP	G	G	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr8:25890622G>C	ENST00000520164.1	-	6	1067	c.530C>G	c.(529-531)tCg>tGg	p.S177W	EBF2_ENST00000408929.3_Missense_Mutation_p.S29W	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	177					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)		GACTGGGTCCGATGGAGTCTC	0.388																																					Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)											0													139	138	138					8																	25890622		1949	4188	6137	SO:0001583	missense	64641			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.530C>G	chr8.hg19:g.25890622G>C	ENSP00000430241:p.Ser177Trp		A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	Missense_Mutation	SNP	ENST00000520164.1	hg19	CCDS43726.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.281973	0.80692	.	.	ENSG00000221818	ENST00000520164;ENST00000408929	T;T	0.57273	0.47;0.41	6.17	5.27	0.74061	.	0.000000	0.64402	U	0.000001	T	0.76234	0.3959	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79232	-0.1888	10	0.87932	D	0	-4.121	17.6654	0.88201	0.0:0.1224:0.8776:0.0	.	177	Q9HAK2	COE2_HUMAN	W	177;29	ENSP00000430241:S177W;ENSP00000386178:S29W	ENSP00000386178:S29W	S	-	2	0	EBF2	25946539	1.000000	0.71417	0.917000	0.36280	0.772000	0.43724	7.624000	0.83124	2.941000	0.99782	0.655000	0.94253	TCG		0.388	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375886.2	NM_022659		C	25890622	G	C	25890622	3	2	671	1	0	0	0	0	1	0	0	0	4883	1059	37	4	1241	4	EBF2	8	25890622	Missense_Mutation	SNP	G	TCGA-HE-7130-01A-11D-1961-08	8005460	25890622	120473400	60	36815											
MATN2	4147	hgsc.bcm.edu	37	8	99019720	99019720	+	Silent	SNP	C	C	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr8:99019720C>T	ENST00000520016.1	+	9	1588	c.1464C>T	c.(1462-1464)tgC>tgT	p.C488C	MATN2_ENST00000522025.2_Silent_p.C204C|MATN2_ENST00000521689.1_Silent_p.C488C|MATN2_ENST00000254898.5_Silent_p.C488C|MATN2_ENST00000524308.1_Silent_p.C447C			O00339	MATN2_HUMAN	matrilin 2	488	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.					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)			TGGATTACTGCCTGCTGAGTG	0.547																																																0													131	130	131					8																	99019720		2069	4211	6280	SO:0001819	synonymous_variant	4147			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.1464C>T	chr8.hg19:g.99019720C>T			A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Silent	SNP	ENST00000520016.1	hg19	CCDS55264.1	.	.	.	.	.	.	.	.	.	.	C	9.120	1.008646	0.19199	.	.	ENSG00000132561	ENST00000518154	.	.	.	5.65	4.77	0.60923	.	.	.	.	.	T	0.63827	0.2544	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62407	-0.6861	4	.	.	.	-23.2752	12.1976	0.54307	0.0:0.9189:0.0:0.0811	.	.	.	.	S	271	.	.	P	+	1	0	MATN2	99088896	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	1.602000	0.36783	1.393000	0.46605	0.655000	0.94253	CCT		0.547	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380332.1			T	99019720	C	T	99019720	2	4	671	1	0	0	0	0	0	0	0	1	9336	747	26	2		2	MATN2	8	99019720	Silent	SNP	C	TCGA-HE-7130-01A-11D-1961-08	73129098	99019720	47344302	61	36816											
TG	7038	hgsc.bcm.edu	37	8	133945814	133945814	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr8:133945814G>A	ENST00000220616.4	+	24	4865	c.4825G>A	c.(4825-4827)Gag>Aag	p.E1609K	TG_ENST00000377869.1_Missense_Mutation_p.E1552K|TG_ENST00000542445.1_Missense_Mutation_p.E43K	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1609					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)		AGATTGCACAGAGGACGAGGC	0.582																																																0													237	176	197					8																	133945814		2203	4300	6503	SO:0001583	missense	7038			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.4825G>A	chr8.hg19:g.133945814G>A	ENSP00000220616:p.Glu1609Lys		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	hg19	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.015|0.015	-1.564449|-1.564449	0.00903|0.00903	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445|ENST00000519178	T;T;T|.	0.63417|.	-0.04;-0.04;-0.04|.	5.3|5.3	-6.81|-6.81	0.01704|0.01704	.|.	2.263600|.	0.01555|.	N|.	0.019854|.	T|T	0.14056|0.14056	0.0340|0.0340	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	B;B|.	0.06786|.	0.001;0.001|.	B;B|.	0.04013|.	0.001;0.001|.	T|T	0.24764|0.24764	-1.0151|-1.0151	10|5	0.06099|.	T|.	0.92|.	.|.	1.784|1.784	0.03038|0.03038	0.3015:0.2787:0.305:0.1148|0.3015:0.2787:0.305:0.1148	.|.	43;1609|.	F5GWW5;P01266|.	.;THYG_HUMAN|.	K|K	1552;415;1609;43|128	ENSP00000367100:E1552K;ENSP00000220616:E1609K;ENSP00000441693:E43K|.	ENSP00000220616:E1609K|.	E|R	+|+	1|2	0|0	TG|TG	134014996|134014996	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-0.841000|-0.841000	0.04359|0.04359	-0.900000|-0.900000	0.03896|0.03896	-0.154000|-0.154000	0.13518|0.13518	GAG|AGA		0.582	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		A	133945814	G	A	133945814	3	1	671	1	0	0	0	0	1	0	0	0	15818	943	33	2	4919	2	TG	8	133945814	Missense_Mutation	SNP	G	TCGA-HE-7130-01A-11D-1961-08	34926094	133945814	12418208	62	36817											
BAI1	575	hgsc.bcm.edu	37	8	143603450	143603450	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr8:143603450G>A	ENST00000517894.1	+	21	4043	c.3149G>A	c.(3148-3150)cGc>cAc	p.R1050H	BAI1_ENST00000323289.5_Missense_Mutation_p.R1050H			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1050					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)					CGCCTCATCCGCAAGCGCTTC	0.652																																																0													30	40	37					8																	143603450		2200	4299	6499	SO:0001583	missense	575			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.3149G>A	chr8.hg19:g.143603450G>A	ENSP00000430945:p.Arg1050His			Missense_Mutation	SNP	ENST00000517894.1	hg19		.	.	.	.	.	.	.	.	.	.	G	28.6	4.933063	0.92458	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.39787	1.06;1.06	3.78	3.78	0.43462	.	0.156800	0.43110	U	0.000612	T	0.51024	0.1650	L	0.46947	1.48	0.58432	D	0.999997	D	0.60160	0.987	P	0.56648	0.803	T	0.57493	-0.7802	10	0.87932	D	0	.	14.6053	0.68475	0.0:0.0:1.0:0.0	.	1050	E9PBK0	.	H	1050	ENSP00000430945:R1050H;ENSP00000313046:R1050H	ENSP00000313046:R1050H	R	+	2	0	BAI1	143600452	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	7.618000	0.83043	1.641000	0.50575	0.305000	0.20034	CGC		0.652	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		A	143603450	G	A	143603450	3	1	671	1	0	0	0	0	1	0	0	0	1298	1087	38	1	3227	1	BAI1	8	143603450	Missense_Mutation	SNP	G	TCGA-HE-7130-01A-11D-1961-08	9657636	143603450	2760572	63	36818											
C5	727	hgsc.bcm.edu	37	9	123783919	123783919	+	Silent	SNP	C	C	G			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr9:123783919C>G	ENST00000223642.1	-	11	1199	c.1170G>C	c.(1168-1170)ctG>ctC	p.L390L		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	390					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)	TTTGTGCATTCAGTGTTACTG	0.403																																																0													201	182	188					9																	123783919		2203	4300	6503	SO:0001819	synonymous_variant	727			M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"Complement system", "Endogenous ligands"	1331	protein-coding gene	gene with protein product	"prepro-C5", "C5a anaphylatoxin"	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.1170G>C	chr9.hg19:g.123783919C>G			Q14CJ0|Q27I61	Silent	SNP	ENST00000223642.1	hg19	CCDS6826.1																																																																																				0.403	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	NM_001735		G	123783919	C	G	123783919	2	3	671	1	0	0	0	0	0	0	0	1	2282	813	29	4		4	C5	9	123783919	Silent	SNP	C	TCGA-HE-7130-01A-11D-1961-08		123783919	17429512	64	36819											
KCNT1	402381	hgsc.bcm.edu	37	9	138594186	138594186	+	5'Flank	SNP	G	G	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr9:138594186G>C	ENST00000298466.5	-	0	0				KCNT1_ENST00000371757.2_Missense_Mutation_p.E28Q|KCNT1_ENST00000298480.5_Missense_Mutation_p.E28Q|KCNT1_ENST00000487664.1_Missense_Mutation_p.E28Q|SOHLH1_ENST00000425225.1_5'Flank	NM_001012415.2	NP_001012415	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1						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)		CCGGACCTTCGAGTTTGACGA	0.726																																																0													22	27	25					9																	138594186		2200	4297	6497	SO:0001631	upstream_gene_variant	57582			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		chr9.hg19:g.138594186G>C	Exception_encountered		C9JG81|Q5EE14|Q5EGC2|Q8NEE3	Missense_Mutation	SNP	ENST00000298466.5	hg19	CCDS35174.1	.	.	.	.	.	.	.	.	.	.	G	10.15	1.270987	0.23221	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757	T;T;T	0.22336	1.98;1.96;1.96	2.17	2.17	0.27698	.	.	.	.	.	T	0.08582	0.0213	N	0.08118	0	0.80722	D	1	B;P	0.34757	0.315;0.467	B;B	0.26517	0.049;0.07	T	0.21861	-1.0233	9	0.41790	T	0.15	.	7.9137	0.29806	0.0:0.0:1.0:0.0	.	28;28	B9EGP2;G5E9V0	.;.	Q	28	ENSP00000417851:E28Q;ENSP00000298480:E28Q;ENSP00000360822:E28Q	ENSP00000298480:E28Q	E	+	1	0	KCNT1	137734007	0.552000	0.26505	0.891000	0.34965	0.007000	0.05969	1.839000	0.39220	1.514000	0.48869	0.650000	0.86243	GAG		0.726	SOHLH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055018.2	NM_001012415		C	138594186	G	C	138594186	1	2	671	0	1	0	0	0	0	0	0	0	8093	1059	37	4		4	KCNT1	9	138594186	5'Flank	SNP	G	TCGA-HE-7130-01A-11D-1961-08	14810267	138594186	2619245	65	36820											
FAM171A1	221061	hgsc.bcm.edu	37	10	15256140	15256140	+	Missense_Mutation	SNP	C	C	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr10:15256140C>T	ENST00000378116.4	-	8	1453	c.1447G>A	c.(1447-1449)Gat>Aat	p.D483N	FAM171A1_ENST00000477161.1_5'Flank	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	483						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						CTGTAGTCATCATTGCCCGAG	0.483																																																0													126	107	113					10																	15256140		2203	4300	6503	SO:0001583	missense	221061			AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 38"	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.1447G>A	chr10.hg19:g.15256140C>T	ENSP00000367356:p.Asp483Asn		D3DRT9|Q32M49|Q8N4I0	Missense_Mutation	SNP	ENST00000378116.4	hg19	CCDS31154.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.660|1.660	-0.511725|-0.511725	0.04200|0.04200	.|.	.|.	ENSG00000148468|ENSG00000148468	ENST00000378116|ENST00000396781	T|.	0.33438|.	1.41|.	5.25|5.25	2.22|2.22	0.28083|0.28083	.|.	0.813268|.	0.11427|.	N|.	0.565243|.	T|T	0.38161|0.38161	0.1030|0.1030	L|L	0.54323|0.54323	1.7|1.7	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.06405|.	0.002|.	T|T	0.26467|0.26467	-1.0102|-1.0102	10|6	0.32370|0.18276	T|T	0.25|0.48	-0.8277|-0.8277	7.3007|7.3007	0.26418|0.26418	0.0:0.692:0.0:0.308|0.0:0.692:0.0:0.308	.|.	483|.	Q5VUB5|.	F1711_HUMAN|.	N|I	483|482	ENSP00000367356:D483N|.	ENSP00000367356:D483N|ENSP00000380001:M482I	D|M	-|-	1|3	0|0	FAM171A1|FAM171A1	15296146|15296146	0.000000|0.000000	0.05858|0.05858	0.006000|0.006000	0.13384|0.13384	0.058000|0.058000	0.15608|0.15608	-0.109000|-0.109000	0.10840|0.10840	0.272000|0.272000	0.22027|0.22027	0.563000|0.563000	0.77884|0.77884	GAT|ATG		0.483	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1	XM_167709		T	15256140	C	T	15256140	3	4	671	1	0	0	0	0	1	0	0	0	5492	826	29	2	1229	2	FAM171A1	10	15256140	Missense_Mutation	SNP	C	TCGA-HE-7130-01A-11D-1961-08		15256140	120278607	66	36821											
MYO3A	53904	hgsc.bcm.edu	37	10	26446363	26446363	+	Missense_Mutation	SNP	G	G	T	rs142974032		TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr10:26446363G>T	ENST00000265944.5	+	26	3084	c.2918G>T	c.(2917-2919)cGg>cTg	p.R973L	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	973	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						CTACAGCTTCGGTACACAGGA	0.408																																																0													127	121	123					10																	26446363		2203	4300	6503	SO:0001583	missense	53904			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.2918G>T	chr10.hg19:g.26446363G>T	ENSP00000265944:p.Arg973Leu		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	hg19	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.984956	0.93044	.	.	ENSG00000095777	ENST00000265944	D	0.88586	-2.4	5.07	5.07	0.68467	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.96116	0.8734	M	0.93462	3.42	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97081	0.9784	10	0.87932	D	0	.	18.8211	0.92097	0.0:0.0:1.0:0.0	.	973	Q8NEV4	MYO3A_HUMAN	L	973	ENSP00000265944:R973L	ENSP00000265944:R973L	R	+	2	0	MYO3A	26486369	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	7.966000	0.87956	2.524000	0.85096	0.655000	0.94253	CGG		0.408	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		T	26446363	G	T	26446363	3	4	671	1	0	0	0	0	1	0	0	0	10078	1116	39	4	3012	4	MYO3A	10	26446363	Missense_Mutation	SNP	G	TCGA-HE-7130-01A-11D-1961-08	11190223	26446363	109088384	67	36822											
C10orf10	11067	hgsc.bcm.edu	37	10	45472882	45472882	+	Silent	SNP	G	G	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr10:45472882G>A	ENST00000298295.3	-	2	814	c.597C>T	c.(595-597)ctC>ctT	p.L199L	RASSF4_ENST00000472561.1_Intron|RASSF4_ENST00000340258.5_Intron|RASSF4_ENST00000374417.2_Intron|RASSF4_ENST00000334940.6_Intron|C10orf10_ENST00000496638.1_Intron	NM_007021.3	NP_008952.1	Q9NTK1	DEPP_HUMAN	chromosome 10 open reading frame 10	199						mitochondrion (GO:0005739)				lung(1)	1						AGAGTGTTCTGAGGACACTGC	0.607																																																0													59	71	67					10																	45472882		2197	4298	6495	SO:0001819	synonymous_variant	11067			AB022718	CCDS7210.1	10q11.21	2014-07-31			ENSG00000165507	ENSG00000165507			23355	protein-coding gene	gene with protein product	"decidual protein induced by progesterone", "fasting induced", "fat-specific expressed gene"	611309				24530860, 19937567, 16123073	Standard	NM_007021		Approved	DEPP, FIG, Fseg	uc001jbr.4	Q9NTK1	OTTHUMG00000018063	ENST00000298295.3:c.597C>T	chr10.hg19:g.45472882G>A			B2R6A1|O94997|Q5T735|Q76MX8	Silent	SNP	ENST00000298295.3	hg19	CCDS7210.1																																																																																				0.607	C10orf10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047758.1	NM_007021		A	45472882	G	A	45472882	2	1	671	1	0	0	0	0	0	0	0	1	1582	1277	45	2		2	C10orf10	10	45472882	Silent	SNP	G	TCGA-HE-7130-01A-11D-1961-08	19026519	45472882	90061865	68	36823											
ANK3	288	hgsc.bcm.edu	37	10	61830133	61830133	+	Silent	SNP	G	G	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr10:61830133G>A	ENST00000280772.2	-	37	10697	c.10506C>T	c.(10504-10506)ttC>ttT	p.F3502F	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3502					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						CCAGTGTGAAGAACTGGGCCC	0.438																																																0													85	84	84					10																	61830133		2203	4300	6503	SO:0001819	synonymous_variant	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.10506C>T	chr10.hg19:g.61830133G>A			B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	ENST00000280772.2	hg19	CCDS7258.1																																																																																				0.438	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		A	61830133	G	A	61830133	2	1	671	1	0	0	0	0	0	0	0	1	622	933	33	2		2	ANK3	10	61830133	Silent	SNP	G	TCGA-HE-7130-01A-11D-1961-08	16357251	61830133	73704614	69	36824											
ANK3	288	hgsc.bcm.edu	37	10	61830689	61830689	+	Nonsense_Mutation	SNP	G	G	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr10:61830689G>C	ENST00000280772.2	-	37	10141	c.9950C>G	c.(9949-9951)tCa>tGa	p.S3317*	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3317					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						GTCATCGCTTGAATCACTGAC	0.443																																																0													130	132	131					10																	61830689		2203	4300	6503	SO:0001587	stop_gained	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.9950C>G	chr10.hg19:g.61830689G>C	ENSP00000280772:p.Ser3317*		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Nonsense_Mutation	SNP	ENST00000280772.2	hg19	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	G	51	17.357246	0.99884	.	.	ENSG00000151150	ENST00000280772	.	.	.	5.48	5.48	0.80851	.	0.000000	0.38326	N	0.001738	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.359	0.94428	0.0:0.0:1.0:0.0	.	.	.	.	X	3317	.	ENSP00000280772:S3317X	S	-	2	0	ANK3	61500695	1.000000	0.71417	0.256000	0.24389	0.293000	0.27360	7.876000	0.87215	2.584000	0.87258	0.561000	0.74099	TCA		0.443	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		C	61830689	G	C	61830689	4	2	671	1	0	0	0	0	0	1	0	0	622	1294	45	4	3524	4	ANK3	10	61830689	Nonsense_Mutation	SNP	G	TCGA-HE-7130-01A-11D-1961-08	556	61830689	73704058	70	36825											
CHST3	9469	hgsc.bcm.edu	37	10	73765714	73765714	+	Missense_Mutation	SNP	C	C	G	rs374590185		TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr10:73765714C>G	ENST00000373115.4	+	2	551	c.114C>G	c.(112-114)atC>atG	p.I38M		NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN	carbohydrate (chondroitin 6) sulfotransferase 3	38					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						TTGTCTTCATCGAAAAGGAAA	0.478																																																0													182	168	173					10																	73765714		2203	4300	6503	SO:0001583	missense	9469			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.114C>G	chr10.hg19:g.73765714C>G	ENSP00000362207:p.Ile38Met		O75099|Q52M30	Missense_Mutation	SNP	ENST00000373115.4	hg19	CCDS7312.1	.	.	.	.	.	.	.	.	.	.	C	16.26	3.072133	0.55646	.	.	ENSG00000122863	ENST00000373115	D	0.98044	-4.68	5.66	0.325	0.15903	.	0.000000	0.85682	D	0.000000	D	0.97445	0.9164	L	0.59436	1.845	0.47214	D	0.999359	D	0.89917	1.0	D	0.87578	0.998	D	0.95229	0.8341	10	0.87932	D	0	-10.7332	5.8588	0.18734	0.1406:0.4405:0.0:0.4189	.	38	Q7LGC8	CHST3_HUMAN	M	38	ENSP00000362207:I38M	ENSP00000362207:I38M	I	+	3	3	CHST3	73435720	0.992000	0.36948	0.997000	0.53966	0.982000	0.71751	0.179000	0.16840	-0.128000	0.11641	-1.202000	0.01658	ATC		0.478	CHST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048563.1	NM_004273		G	73765714	C	G	73765714	3	3	671	1	0	0	0	0	1	0	0	0	3407	874	31	4	116	4	CHST3	10	73765714	Missense_Mutation	SNP	C	TCGA-HE-7130-01A-11D-1961-08	11935025	73765714	61769033	71	36826											
CDHR1	92211	hgsc.bcm.edu	37	10	85956359	85956359	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr10:85956359G>A	ENST00000372117.3	+	3	353	c.250G>A	c.(250-252)Gac>Aac	p.D84N	CDHR1_ENST00000332904.3_Missense_Mutation_p.D84N	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	84	Cadherin 1. {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						CTTTTCTGTTGACCCCACTTT	0.562																																																0													138	124	129					10																	85956359		2203	4300	6503	SO:0001583	missense	92211			AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"Cadherins / Cadherin-related"	14550	protein-coding gene	gene with protein product		609502	"protocadherin 21"	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.250G>A	chr10.hg19:g.85956359G>A	ENSP00000361189:p.Asp84Asn		Q69YZ8|Q8IXY5	Missense_Mutation	SNP	ENST00000372117.3	hg19	CCDS7372.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.237685	0.79800	.	.	ENSG00000148600	ENST00000332904;ENST00000372117	T;T	0.62788	-0.0;-0.0	5.57	5.57	0.84162	Cadherin (5);Cadherin-like (1);	0.095350	0.64402	D	0.000001	T	0.54191	0.1843	L	0.37630	1.12	0.80722	D	1	B;B	0.30542	0.284;0.148	B;B	0.34722	0.188;0.186	T	0.53215	-0.8470	10	0.39692	T	0.17	-36.6578	12.4369	0.55604	0.0811:0.0:0.9189:0.0	.	84;84	Q96JP9-2;Q96JP9	.;CDHR1_HUMAN	N	84	ENSP00000331063:D84N;ENSP00000361189:D84N	ENSP00000331063:D84N	D	+	1	0	CDHR1	85946339	1.000000	0.71417	0.770000	0.31555	0.782000	0.44232	5.695000	0.68279	2.630000	0.89119	0.561000	0.74099	GAC		0.562	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	NM_033100		A	85956359	G	A	85956359	3	1	671	1	0	0	0	0	1	0	0	0	3120	1290	45	2	260	2	CDHR1	10	85956359	Missense_Mutation	SNP	G	TCGA-HE-7130-01A-11D-1961-08	12190645	85956359	49578388	72	36827											
TRUB1	142940	hgsc.bcm.edu	37	10	116734920	116734920	+	Missense_Mutation	SNP	A	A	G			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr10:116734920A>G	ENST00000298746.3	+	8	893	c.832A>G	c.(832-834)Acc>Gcc	p.T278A		NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase family member 1	278					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		GCTGACCCGAACCAAACAGGG	0.408																																																0													157	145	149					10																	116734920		2203	4300	6503	SO:0001583	missense	142940			AF448144	CCDS7591.1	10q25.3	2013-09-02	2013-09-02		ENSG00000165832	ENSG00000165832			16060	protein-coding gene	gene with protein product		610726	"TruB pseudouridine (psi) synthase homolog 1 (E. coli)"			12736709	Standard	NM_139169		Approved	PUS4	uc001lcd.3	Q8WWH5	OTTHUMG00000019094	ENST00000298746.3:c.832A>G	chr10.hg19:g.116734920A>G	ENSP00000298746:p.Thr278Ala		B2R716|Q53ES2	Missense_Mutation	SNP	ENST00000298746.3	hg19	CCDS7591.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.696609	0.88830	.	.	ENSG00000165832	ENST00000298746	T	0.16196	2.36	5.7	5.7	0.88788	Pseudouridine synthase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.49558	0.1564	M	0.93062	3.375	0.80722	D	1	D	0.55605	0.972	P	0.62740	0.906	T	0.61048	-0.7141	10	0.66056	D	0.02	-16.4514	14.82	0.70065	1.0:0.0:0.0:0.0	.	278	Q8WWH5	TRUB1_HUMAN	A	278	ENSP00000298746:T278A	ENSP00000298746:T278A	T	+	1	0	TRUB1	116724910	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.785000	0.85724	2.287000	0.76781	0.533000	0.62120	ACC		0.408	TRUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050504.1	NM_139169		G	116734920	A	G	116734920	3	3	671	1	0	0	0	0	1	0	0	0	16607	43	2	3	862	3	TRUB1	10	116734920	Missense_Mutation	SNP	A	TCGA-HE-7130-01A-11D-1961-08	30778561	116734920	18799827	73	36828											
MKI67	4288	hgsc.bcm.edu	37	10	129910532	129910532	+	Missense_Mutation	SNP	C	C	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr10:129910532C>T	ENST00000368654.3	-	9	2209	c.1834G>A	c.(1834-1836)Gag>Aag	p.E612K	MKI67_ENST00000368653.3_Missense_Mutation_p.E252K|MKI67_ENST00000484853.1_5'UTR	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	612					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)				TTAGGAACCTCTGTCTGAGAT	0.488																																																0													111	102	105					10																	129910532		2203	4300	6503	SO:0001583	missense	4288			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.1834G>A	chr10.hg19:g.129910532C>T	ENSP00000357643:p.Glu612Lys		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	hg19	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.117442	0.37339	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609;ENST00000368652	T;T	0.01335	5.04;5.0	3.15	2.24	0.28232	.	0.534998	0.18473	N	0.140147	T	0.01592	0.0051	N	0.22421	0.69	0.09310	N	1	P;P;P	0.50528	0.73;0.936;0.61	B;P;B	0.47673	0.205;0.554;0.101	T	0.55276	-0.8166	10	0.33141	T	0.24	.	8.3147	0.32093	0.0:0.8808:0.0:0.1192	.	612;252;612	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	K	612;252;612;187	ENSP00000357643:E612K;ENSP00000357642:E252K	ENSP00000357641:E187K	E	-	1	0	MKI67	129800522	0.000000	0.05858	0.031000	0.17742	0.069000	0.16628	0.316000	0.19469	0.889000	0.36185	0.655000	0.94253	GAG		0.488	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		T	129910532	C	T	129910532	3	4	671	1	0	0	0	0	1	0	0	0	9600	922	32	2	7964	2	MKI67	10	129910532	Missense_Mutation	SNP	C	TCGA-HE-7130-01A-11D-1961-08	13175612	129910532	5624215	74	36829											
IPO7	10527	hgsc.bcm.edu	37	11	9451343	9451343	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr11:9451343G>A	ENST00000379719.3	+	15	1856	c.1714G>A	c.(1714-1716)Gaa>Aaa	p.E572K	CTD-2371O3.2_ENST00000531111.1_RNA|SNORA23_ENST00000365128.1_RNA	NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	572					innate immune response (GO:0045087)|protein import into nucleus (GO:0006606)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)|small GTPase regulator activity (GO:0005083)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		ATATAGTGAAGAAGTTACTCC	0.353																																																0													71	61	65					11																	9451343		2201	4294	6495	SO:0001583	missense	10527			AF098799	CCDS31425.1	11p15.3	2010-12-02	2003-03-11	2003-03-14	ENSG00000205339	ENSG00000205339		"Importins"	9852	protein-coding gene	gene with protein product		605586	"RAN binding protein 7"	RANBP7		9214382	Standard	NM_006391		Approved	Imp7	uc001mho.3	O95373	OTTHUMG00000165753	ENST00000379719.3:c.1714G>A	chr11.hg19:g.9451343G>A	ENSP00000369042:p.Glu572Lys		A6NNM5|B2R786|Q1RMF7|Q9H177|Q9NTE3	Missense_Mutation	SNP	ENST00000379719.3	hg19	CCDS31425.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.743031	0.89663	.	.	ENSG00000205339	ENST00000379719	T	0.44881	0.91	5.86	5.86	0.93980	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.53948	0.1828	M	0.80183	2.485	0.80722	D	1	B	0.31989	0.35	B	0.36335	0.222	T	0.55049	-0.8201	10	0.51188	T	0.08	.	20.1772	0.98182	0.0:0.0:1.0:0.0	.	572	O95373	IPO7_HUMAN	K	572	ENSP00000369042:E572K	ENSP00000369042:E572K	E	+	1	0	IPO7	9407919	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.778000	0.95560	0.655000	0.94253	GAA		0.353	IPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386022.1	NM_006391		A	9451343	G	A	9451343	3	1	671	1	0	0	0	0	1	0	0	0	7799	943	33	2	1772	2	IPO7	11	9451343	Missense_Mutation	SNP	G	TCGA-HE-7130-01A-11D-1961-08		9451343	125555173	75	36830											
COPB1	1315	hgsc.bcm.edu	37	11	14501121	14501121	+	Missense_Mutation	SNP	G	G	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr11:14501121G>C	ENST00000249923.3	-	11	1652	c.1352C>G	c.(1351-1353)tCt>tGt	p.S451C	RNU7-49P_ENST00000516182.1_RNA|COPB1_ENST00000439561.2_Missense_Mutation_p.S451C	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	451					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						CTACTTGACAGATTTAATAGC	0.343																																																0													76	78	77					11																	14501121		2200	4293	6493	SO:0001583	missense	1315			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.1352C>G	chr11.hg19:g.14501121G>C	ENSP00000249923:p.Ser451Cys		D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Missense_Mutation	SNP	ENST00000249923.3	hg19	CCDS7815.1	.	.	.	.	.	.	.	.	.	.	G	31	5.070302	0.93950	.	.	ENSG00000129083	ENST00000249923;ENST00000439561;ENST00000534234	T;T;T	0.14893	2.47;2.47;2.47	5.83	5.83	0.93111	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.049398	0.85682	D	0.000000	T	0.48589	0.1508	M	0.87971	2.92	0.80722	D	1	P	0.45768	0.866	P	0.60117	0.869	T	0.47302	-0.9128	10	0.56958	D	0.05	-0.5739	20.127	0.97984	0.0:0.0:1.0:0.0	.	451	P53618	COPB_HUMAN	C	451	ENSP00000249923:S451C;ENSP00000397873:S451C;ENSP00000436383:S451C	ENSP00000249923:S451C	S	-	2	0	COPB1	14457697	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.775000	0.95449	0.585000	0.79938	TCT		0.343	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386410.1	NM_016451		C	14501121	G	C	14501121	3	2	671	1	0	0	0	0	1	0	0	0	3730	942	33	4	1557	4	COPB1	11	14501121	Missense_Mutation	SNP	G	TCGA-HE-7130-01A-11D-1961-08	5049778	14501121	120505395	76	36831											
RAG2	5897	hgsc.bcm.edu	37	11	36614896	36614896	+	Missense_Mutation	SNP	C	C	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr11:36614896C>T	ENST00000311485.3	-	2	984	c.823G>A	c.(823-825)Ggt>Agt	p.G275S	C11orf74_ENST00000334307.5_5'Flank|RAG2_ENST00000528428.1_5'Flank|C11orf74_ENST00000534635.1_5'Flank|C11orf74_ENST00000347206.4_5'Flank|C11orf74_ENST00000446510.2_5'Flank	NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	275					B cell differentiation (GO:0030183)|chromatin modification (GO:0016568)|pre-B cell allelic exclusion (GO:0002331)|T cell differentiation in thymus (GO:0033077)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				TGATAGCCACCAACAATAACA	0.428									Familial Hemophagocytic Lymphohistiocytosis																																							0													86	87	86					11																	36614896		2202	4298	6500	SO:0001583	missense	5897	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	AF080577	CCDS7903.1	11p13	2014-09-17				ENSG00000175097			9832	protein-coding gene	gene with protein product		179616				1283330	Standard	NM_000536		Approved		uc001mwv.4	P55895		ENST00000311485.3:c.823G>A	chr11.hg19:g.36614896C>T	ENSP00000308620:p.Gly275Ser		A8K9E9|Q8TBL4	Missense_Mutation	SNP	ENST00000311485.3	hg19	CCDS7903.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.473990	0.84640	.	.	ENSG00000175097	ENST00000311485	D	0.93906	-3.31	5.69	5.69	0.88448	Galactose oxidase/kelch, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.98027	0.9350	H	0.96048	3.76	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98794	1.0737	10	0.87932	D	0	-12.4322	19.8052	0.96529	0.0:1.0:0.0:0.0	.	275	P55895	RAG2_HUMAN	S	275	ENSP00000308620:G275S	ENSP00000308620:G275S	G	-	1	0	RAG2	36571472	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.487000	0.81328	2.692000	0.91855	0.650000	0.86243	GGT		0.428	RAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389536.1	NM_000536		T	36614896	C	T	36614896	3	4	671	1	0	0	0	0	1	0	0	0	13011	594	21	2	764	2	RAG2	11	36614896	Missense_Mutation	SNP	C	TCGA-HE-7130-01A-11D-1961-08	22113775	36614896	98391620	77	36832											
OR9G1	390174	hgsc.bcm.edu	37	11	56468116	56468116	+	Missense_Mutation	SNP	A	A	G			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr11:56468116A>G	ENST00000312153.1	+	1	253	c.253A>G	c.(253-255)Atc>Gtc	p.I85V		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, member 1	85						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						AGTGACCTGCATCTCTGAAGA	0.507																																																0													127	124	125					11																	56468116		2201	4293	6494	SO:0001583	missense	504191			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.253A>G	chr11.hg19:g.56468116A>G	ENSP00000309012:p.Ile85Val		Q6IEU9|Q8NGQ0	Missense_Mutation	SNP	ENST00000312153.1	hg19	CCDS31536.1	.	.	.	.	.	.	.	.	.	.	A	0.852	-0.738253	0.03111	.	.	ENSG00000174914	ENST00000312153	T	0.02236	4.38	4.54	4.54	0.55810	GPCR, rhodopsin-like superfamily (1);	0.251802	0.29178	N	0.012920	T	0.01661	0.0053	N	0.15975	0.35	0.24579	N	0.993886	B	0.06786	0.001	B	0.10450	0.005	T	0.48592	-0.9022	10	0.19590	T	0.45	-19.0486	10.2627	0.43436	0.721:0.279:0.0:0.0	.	85	Q8NH87	OR9G1_HUMAN	V	85	ENSP00000309012:I85V	ENSP00000309012:I85V	I	+	1	0	OR9G1	56224692	0.000000	0.05858	0.995000	0.50966	0.171000	0.22731	-0.467000	0.06664	2.013000	0.59113	0.477000	0.44152	ATC		0.507	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393253.1	NM_001005213		G	56468116	A	G	56468116	3	3	671	1	0	0	0	0	1	0	0	0	11252	217	8	3	255	3	OR9G1	11	56468116	Missense_Mutation	SNP	A	TCGA-HE-7130-01A-11D-1961-08	19853220	56468116	78538400	78	36833											
OR4D11	219986	hgsc.bcm.edu	37	11	59271133	59271133	+	Missense_Mutation	SNP	C	C	G			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr11:59271133C>G	ENST00000313253.1	+	1	85	c.85C>G	c.(85-87)Ctt>Gtt	p.L29V		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	29						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						GGTCTTGTTTCTTTTTTTATG	0.433																																																0													103	96	98					11																	59271133		2201	4295	6496	SO:0001583	missense	219986			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.85C>G	chr11.hg19:g.59271133C>G	ENSP00000320077:p.Leu29Val			Missense_Mutation	SNP	ENST00000313253.1	hg19	CCDS31563.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.816889	0.00072	.	.	ENSG00000176200	ENST00000313253	T	0.00418	7.49	5.45	-1.74	0.08056	.	0.332667	0.21503	N	0.073498	T	0.00144	0.0004	N	0.16233	0.39	0.20638	N	0.999875	B	0.02656	0.0	B	0.06405	0.002	T	0.46176	-0.9210	10	0.02654	T	1	-9.7981	2.6212	0.04917	0.2091:0.3651:0.287:0.1389	.	29	Q8NGI4	OR4DB_HUMAN	V	29	ENSP00000320077:L29V	ENSP00000320077:L29V	L	+	1	0	OR4D11	59027709	0.000000	0.05858	0.184000	0.23157	0.091000	0.18340	-1.215000	0.02985	-0.006000	0.14370	-0.311000	0.09066	CTT		0.433	OR4D11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394236.1	NM_001004706		G	59271133	C	G	59271133	3	3	671	1	0	0	0	0	1	0	0	0	11057	913	32	4	87	4	OR4D11	11	59271133	Missense_Mutation	SNP	C	TCGA-HE-7130-01A-11D-1961-08	2803017	59271133	75735383	79	36834											
NARS2	79731	hgsc.bcm.edu	37	11	78154732	78154732	+	Missense_Mutation	SNP	G	G	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr11:78154732G>C	ENST00000281038.5	-	12	1612	c.1237C>G	c.(1237-1239)Cat>Gat	p.H413D	NARS2_ENST00000528850.1_Missense_Mutation_p.H186D|RP11-452H21.1_ENST00000534168.1_RNA	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	413					asparaginyl-tRNA aminoacylation (GO:0006421)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	asparagine-tRNA ligase activity (GO:0004816)|ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	TCTAAGAAATGGTATCGTTCT	0.423																																																0													96	91	93					11																	78154732		2200	4292	6492	SO:0001583	missense	79731			BC007800	CCDS8261.1, CCDS58164.1	11q14.1	2011-07-01	2007-02-23		ENSG00000137513	ENSG00000137513	6.1.1.22	"Aminoacyl tRNA synthetases / Class II"	26274	protein-coding gene	gene with protein product	"asparagine tRNA ligase 2, mitochondrial (putative)"	612803				15779907	Standard	NM_024678		Approved	FLJ23441, SLM5	uc001ozi.3	Q96I59	OTTHUMG00000166702	ENST00000281038.5:c.1237C>G	chr11.hg19:g.78154732G>C	ENSP00000281038:p.His413Asp		G3V178	Missense_Mutation	SNP	ENST00000281038.5	hg19	CCDS8261.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.65|15.65	2.895206|2.895206	0.52121|0.52121	.|.	.|.	ENSG00000137513|ENSG00000137513	ENST00000281038;ENST00000528850|ENST00000529771	T;T|.	0.77229|.	-1.08;-1.08|.	4.96|4.96	4.96|4.96	0.65561|0.65561	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);|.	0.189082|.	0.56097|.	D|.	0.000031|.	T|T	0.10551|0.10551	0.0258|0.0258	N|N	0.00106|0.00106	-2.12|-2.12	0.35491|0.35491	D|D	0.798978|0.798978	B|.	0.06786|.	0.001|.	B|.	0.10450|.	0.005|.	T|T	0.29579|0.29579	-1.0007|-1.0007	10|5	0.02654|.	T|.	1|.	-6.0659|-6.0659	15.1595|15.1595	0.72771|0.72771	0.0:0.1415:0.8585:0.0|0.0:0.1415:0.8585:0.0	.|.	413|.	Q96I59|.	SYNM_HUMAN|.	D|R	413;186|25	ENSP00000281038:H413D;ENSP00000432635:H186D|.	ENSP00000281038:H413D|.	H|P	-|-	1|2	0|0	NARS2|NARS2	77832380|77832380	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.992000|0.992000	0.81027|0.81027	2.432000|2.432000	0.44784|0.44784	2.734000|2.734000	0.93682|0.93682	0.591000|0.591000	0.81541|0.81541	CAT|CCA		0.423	NARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391138.2	NM_024678		C	78154732	G	C	78154732	3	2	671	1	0	0	0	0	1	0	0	0	10173	1348	47	4	208	4	NARS2	11	78154732	Missense_Mutation	SNP	G	TCGA-HE-7130-01A-11D-1961-08	18883599	78154732	56851784	80	36835											
CREBZF	58487	hgsc.bcm.edu	37	11	85375684	85375684	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr11:85375684G>A	ENST00000527447.1	-	1	462	c.236C>T	c.(235-237)tCc>tTc	p.S79F	CREBZF_ENST00000531515.1_Intron|CREBZF_ENST00000398294.2_5'UTR|CREBZF_ENST00000534224.1_Intron	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor	79					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)				CTCCTCGGGGGAGGGCGCGCG	0.701																																					NSCLC(172;674 2044 9050 18334 41735)											0													35	42	40					11																	85375684		1861	4083	5944	SO:0001583	missense	58487			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.236C>T	chr11.hg19:g.85375684G>A	ENSP00000433459:p.Ser79Phe		B2R8Q9|Q0P5U9|Q52LT3	Missense_Mutation	SNP	ENST00000527447.1	hg19	CCDS41697.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.635626	0.47049	.	.	ENSG00000137504	ENST00000527447	.	.	.	3.72	3.72	0.42706	.	0.000000	0.33217	U	0.005143	T	0.29749	0.0743	N	0.08118	0	0.80722	D	1	B	0.31910	0.346	B	0.35550	0.205	T	0.09443	-1.0674	8	.	.	.	-19.421	8.7689	0.34719	0.0:0.0:0.7748:0.2252	.	79	Q9NS37	ZHANG_HUMAN	F	79	.	.	S	-	2	0	CREBZF	85053332	0.998000	0.40836	0.998000	0.56505	0.982000	0.71751	2.082000	0.41605	2.068000	0.61886	0.561000	0.74099	TCC		0.701	CREBZF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390191.2	NM_001039618		A	85375684	G	A	85375684	3	1	671	1	0	0	0	0	1	0	0	0	3865	1174	41	2	832	2	CREBZF	11	85375684	Missense_Mutation	SNP	G	TCGA-HE-7130-01A-11D-1961-08	7220952	85375684	49630832	81	36836											
YAP1	10413	hgsc.bcm.edu	37	11	102080284	102080284	+	Missense_Mutation	SNP	C	C	G			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr11:102080284C>G	ENST00000282441.5	+	6	1409	c.1021C>G	c.(1021-1023)Cca>Gca	p.P341A	YAP1_ENST00000537274.1_Intron|YAP1_ENST00000531439.1_Intron|YAP1_ENST00000524575.1_Missense_Mutation_p.P163A|YAP1_ENST00000526343.1_Intron|YAP1_ENST00000345877.2_Intron	NM_001130145.2|NM_001282101.1	NP_001123617.1|NP_001269030.1	P46937	YAP1_HUMAN	Yes-associated protein 1	341	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)		AGCAAATTCTCCAAAATGTCA	0.368																																					Colon(50;247 1103 7861 28956)											0													142	126	131					11																	102080284		1568	3581	5149	SO:0001583	missense	10413				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.1021C>G	chr11.hg19:g.102080284C>G	ENSP00000282441:p.Pro341Ala		B4DTY1|B7ZA01|E3WEB5|E3WEB6|E9PRV2|F5H202|K0KQ18|K0KYZ8|K0L195|K0L1G3|Q7Z574|Q8IUY9	Missense_Mutation	SNP	ENST00000282441.5	hg19	CCDS44716.1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.138326	0.56936	.	.	ENSG00000137693	ENST00000282441;ENST00000445250;ENST00000524575	T	0.39592	1.07	6.17	6.17	0.99709	.	0.226095	0.38720	N	0.001598	T	0.46386	0.1390	N	0.08118	0	0.80722	D	1	D;D;D	0.69078	0.993;0.996;0.997	D;D;D	0.73708	0.956;0.981;0.98	T	0.49399	-0.8944	10	0.35671	T	0.21	.	19.0599	0.93085	0.0:1.0:0.0:0.0	.	163;258;341	B4DTY1;F5GWC5;P46937	.;.;YAP1_HUMAN	A	341;258;163	ENSP00000435602:P163A	ENSP00000282441:P341A	P	+	1	0	YAP1	101585494	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.770000	0.62309	2.941000	0.99782	0.655000	0.94253	CCA		0.368	YAP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394151.1	NM_006106		G	102080284	C	G	102080284	3	3	671	1	0	0	0	0	1	0	0	0	17471	855	30	4	1055	4	YAP1	11	102080284	Missense_Mutation	SNP	C	TCGA-HE-7130-01A-11D-1961-08	16704600	102080284	32926232	82	36837											
YAP1	10413	hgsc.bcm.edu	37	11	102098224	102098224	+	Missense_Mutation	SNP	G	G	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr11:102098224G>C	ENST00000282441.5	+	8	1576	c.1188G>C	c.(1186-1188)gaG>gaC	p.E396D	YAP1_ENST00000537274.1_Missense_Mutation_p.E384D|YAP1_ENST00000531439.1_Missense_Mutation_p.E380D|RP11-864G5.3_ENST00000526310.1_RNA|YAP1_ENST00000524575.1_Missense_Mutation_p.E218D|YAP1_ENST00000528834.1_3'UTR|YAP1_ENST00000526343.1_Missense_Mutation_p.E342D|YAP1_ENST00000345877.2_Missense_Mutation_p.E346D	NM_001130145.2|NM_001282101.1	NP_001123617.1|NP_001269030.1	P46937	YAP1_HUMAN	Yes-associated protein 1	396	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)		CTCGAGATGAGAGTACAGACA	0.408																																					Colon(50;247 1103 7861 28956)											0													155	119	131					11																	102098224		2203	4299	6502	SO:0001583	missense	10413				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.1188G>C	chr11.hg19:g.102098224G>C	ENSP00000282441:p.Glu396Asp		B4DTY1|B7ZA01|E3WEB5|E3WEB6|E9PRV2|F5H202|K0KQ18|K0KYZ8|K0L195|K0L1G3|Q7Z574|Q8IUY9	Missense_Mutation	SNP	ENST00000282441.5	hg19	CCDS44716.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.43|19.43	3.825846|3.825846	0.71143|0.71143	.|.	.|.	ENSG00000137693|ENSG00000137693	ENST00000526343;ENST00000282441;ENST00000537274;ENST00000345877;ENST00000445250;ENST00000531439;ENST00000524575|ENST00000529029	T;T;T|.	0.56103|.	0.48;0.5;0.6|.	5.28|5.28	1.34|1.34	0.21922|0.21922	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.61527|0.61527	0.2354|0.2354	M|M	0.65975|0.65975	2.015|2.015	0.48632|0.48632	D|D	0.999686|0.999686	P;D;D;D;D;D|.	0.71674|.	0.956;0.998;0.991;0.97;0.991;0.998|.	D;D;P;P;P;P|.	0.68353|.	0.931;0.957;0.82;0.774;0.82;0.875|.	T|T	0.55354|0.55354	-0.8154|-0.8154	10|5	0.32370|.	T|.	0.25|.	.|.	9.06|9.06	0.36429|0.36429	0.4715:0.0:0.5285:0.0|0.4715:0.0:0.5285:0.0	.|.	218;313;342;380;396;346|.	B4DTY1;F5GWC5;E9PRV2;P46937-2;P46937;P46937-3|.	.;.;.;.;YAP1_HUMAN;.|.	D|T	342;396;384;346;313;380;218|150	ENSP00000434134:E342D;ENSP00000331023:E346D;ENSP00000435602:E218D|.	ENSP00000282441:E396D|.	E|R	+|+	3|2	2|0	YAP1|YAP1	101603434|101603434	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.980000|0.980000	0.70556|0.70556	2.046000|2.046000	0.41260|0.41260	-0.001000|-0.001000	0.14495|0.14495	0.650000|0.650000	0.86243|0.86243	GAG|AGA		0.408	YAP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394151.1	NM_006106		C	102098224	G	C	102098224	3	2	671	1	0	0	0	0	1	0	0	0	17471	933	33	4	1230	4	YAP1	11	102098224	Missense_Mutation	SNP	G	TCGA-HE-7130-01A-11D-1961-08	17940	102098224	32908292	83	36838											
HTR3A	3359	hgsc.bcm.edu	37	11	113856896	113856896	+	Splice_Site	SNP	A	A	G			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr11:113856896A>G	ENST00000504030.2	+	6	1149	c.704A>G	c.(703-705)tAt>tGt	p.Y235C	HTR3A_ENST00000375498.2_Splice_Site_p.Y241C|HTR3A_ENST00000355556.2_Splice_Site_p.Y241C|HTR3A_ENST00000535865.1_Intron|HTR3A_ENST00000506841.2_Splice_Site_p.Y235C|HTR3A_ENST00000299961.5_Splice_Site_p.Y220C			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	235					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)	ATGAAGTTCTATGTGAGTGGG	0.463																																																0													127	129	128					11																	113856896		2201	4296	6497	SO:0001630	splice_region_variant	3359			D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	5297	protein-coding gene	gene with protein product		182139	"5-hydroxytryptamine (serotonin) receptor 3A"	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.705+1A>G	chr11.hg19:g.113856896A>G			B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Missense_Mutation	SNP	ENST00000504030.2	hg19		.	.	.	.	.	.	.	.	.	.	A	14.92	2.678107	0.47886	.	.	ENSG00000166736	ENST00000504030;ENST00000355556;ENST00000375498;ENST00000506841;ENST00000299961	T;T;T;T;T	0.80033	-1.33;-1.33;-1.33;-1.33;-1.33	5.19	5.19	0.71726	.	0.238980	0.43579	D	0.000549	D	0.87390	0.6165	M	0.73598	2.24	0.80722	D	1	D;D;D	0.71674	0.996;0.998;0.998	P;P;D	0.66351	0.905;0.887;0.943	D	0.87931	0.2710	10	0.54805	T	0.06	-11.3278	11.1542	0.48478	0.8621:0.0:0.0:0.1379	.	220;241;241	B4DSY6;G5E986;Q7KZM7	.;.;.	C	235;241;241;235;220	ENSP00000424189:Y235C;ENSP00000347754:Y241C;ENSP00000364648:Y241C;ENSP00000424776:Y235C;ENSP00000299961:Y220C	ENSP00000299961:Y220C	Y	+	2	0	HTR3A	113362106	1.000000	0.71417	0.987000	0.45799	0.454000	0.32378	4.949000	0.63596	2.079000	0.62486	0.533000	0.62120	TAT		0.463	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869	Missense_Mutation	G	113856896	A	G	113856896	5	3	671	1	0	0	0	0	0	0	1	0	7446	463	16	3	770	3	HTR3A	11	113856896	Splice_Site	SNP	A	TCGA-HE-7130-01A-11D-1961-08	11758672	113856896	21149620	84	36839											
VWF	7450	hgsc.bcm.edu	37	12	6167128	6167128	+	Missense_Mutation	SNP	G	G	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr12:6167128G>C	ENST00000261405.5	-	14	1870	c.1616C>G	c.(1615-1617)tCt>tGt	p.S539C		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	539	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				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)	CGCCAGCCCAGAGGGGGTAAG	0.662																																																0													56	59	58					12																	6167128		2203	4299	6502	SO:0001583	missense	7450				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.1616C>G	chr12.hg19:g.6167128G>C	ENSP00000261405:p.Ser539Cys		Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	hg19	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	G	12.35	1.911404	0.33721	.	.	ENSG00000110799	ENST00000261405	T	0.62498	0.02	4.94	4.03	0.46877	von Willebrand factor, type D domain (3);	0.650601	0.12694	N	0.446915	T	0.80889	0.4710	M	0.87617	2.895	0.47214	D	0.999357	D;P	0.64830	0.994;0.794	D;P	0.64687	0.928;0.694	T	0.82458	-0.0447	10	0.87932	D	0	.	14.3887	0.66963	0.0:0.1485:0.8515:0.0	.	539;539	B4DNX0;P04275	.;VWF_HUMAN	C	539	ENSP00000261405:S539C	ENSP00000261405:S539C	S	-	2	0	VWF	6037389	0.891000	0.30450	0.007000	0.13788	0.010000	0.07245	4.866000	0.63005	1.267000	0.44247	0.491000	0.48974	TCT		0.662	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		C	6167128	G	C	6167128	3	2	671	1	0	0	0	0	1	0	0	0	17251	942	33	4	6981	4	VWF	12	6167128	Missense_Mutation	SNP	G	TCGA-HE-7130-01A-11D-1961-08		6167128	127684767	85	36840											
CAPRIN2	65981	hgsc.bcm.edu	37	12	30906661	30906661	+	Missense_Mutation	SNP	C	C	G			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr12:30906661C>G	ENST00000395805.2	-	1	584	c.37G>C	c.(37-39)Gag>Cag	p.E13Q	CAPRIN2_ENST00000308433.5_5'UTR|RP11-77I22.2_ENST00000500076.2_lincRNA|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.E13Q|CAPRIN2_ENST00000251071.5_Missense_Mutation_p.E13Q|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.E13Q	NM_001206856.1	NP_001193785.1			caprin family member 2									p.E13K(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)					GAAGTGAGCTCGAAACCCAAT	0.408											OREG0021723	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				2	Substitution - Missense(2)	large_intestine(2)											103	104	104					12																	30906661		2202	4299	6501	SO:0001583	missense	65981			AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"C1q domain containing 1"	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000395805.2:c.37G>C	chr12.hg19:g.30906661C>G	ENSP00000379150:p.Glu13Gln	820		Missense_Mutation	SNP	ENST00000395805.2	hg19	CCDS55816.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.165966	0.57476	.	.	ENSG00000110888	ENST00000298892;ENST00000395805;ENST00000251071;ENST00000417045	T;T;T;T	0.73363	-0.74;2.74;-0.69;2.74	3.72	2.83	0.33086	.	.	.	.	.	T	0.48978	0.1530	N	0.08118	0	0.19575	N	0.999963	B;P;B;B	0.35226	0.358;0.491;0.218;0.325	B;B;B;B	0.32805	0.073;0.153;0.03;0.067	T	0.31833	-0.9929	8	.	.	.	0.5218	5.7801	0.18301	0.0:0.7584:0.0:0.2416	.	13;13;13;13	Q149P6;Q6IMN6-3;Q6IMN6;Q6IMN6-2	.;.;CAPR2_HUMAN;.	Q	13	ENSP00000298892:E13Q;ENSP00000379150:E13Q;ENSP00000251071:E13Q;ENSP00000391479:E13Q	.	E	-	1	0	CAPRIN2	30797928	0.001000	0.12720	0.056000	0.19401	0.500000	0.33767	0.235000	0.17948	0.783000	0.33636	0.563000	0.77884	GAG		0.408	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403322.2	NM_023925		G	30906661	C	G	30906661	3	3	671	1	0	0	0	0	1	0	0	0	2638	893	31	4	3418	4	CAPRIN2	12	30906661	Missense_Mutation	SNP	C	TCGA-HE-7130-01A-11D-1961-08	24739533	30906661	102945234	86	36841											
SLC2A13	114134	hgsc.bcm.edu	37	12	40422219	40422219	+	Missense_Mutation	SNP	C	C	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr12:40422219C>T	ENST00000280871.4	-	3	859	c.809G>A	c.(808-810)gGa>gAa	p.G270E	SLC2A13_ENST00000380858.1_Missense_Mutation_p.G270E	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	270					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)				CTGAGTCTGTCCTTTCTGAAT	0.438										HNSCC(50;0.14)																																						0													101	106	104					12																	40422219		2203	4300	6503	SO:0001583	missense	114134			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.809G>A	chr12.hg19:g.40422219C>T	ENSP00000280871:p.Gly270Glu		Q17S07	Missense_Mutation	SNP	ENST00000280871.4	hg19	CCDS8736.2	.	.	.	.	.	.	.	.	.	.	C	26.9	4.781378	0.90282	.	.	ENSG00000151229	ENST00000280871;ENST00000380858	T;T	0.76839	-1.05;-1.05	5.54	5.54	0.83059	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.099482	0.64402	D	0.000001	D	0.88403	0.6427	M	0.82323	2.585	0.80722	D	1	P;D	0.60575	0.933;0.988	P;P	0.61722	0.838;0.893	D	0.88848	0.3317	10	0.59425	D	0.04	-17.57	19.8499	0.96734	0.0:1.0:0.0:0.0	.	270;270	Q96QE2;E9PE47	MYCT_HUMAN;.	E	270	ENSP00000280871:G270E;ENSP00000370239:G270E	ENSP00000280871:G270E	G	-	2	0	SLC2A13	38708486	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.290000	0.78711	2.779000	0.95612	0.591000	0.81541	GGA		0.438	SLC2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132849.2			T	40422219	C	T	40422219	3	4	671	1	0	0	0	0	1	0	0	0	14548	855	30	2	1169	2	SLC2A13	12	40422219	Missense_Mutation	SNP	C	TCGA-HE-7130-01A-11D-1961-08	9515558	40422219	93429676	87	36842											
DDX23	9416	hgsc.bcm.edu	37	12	49231830	49231830	+	Missense_Mutation	SNP	C	C	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr12:49231830C>T	ENST00000308025.3	-	6	593	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K	DDX23_ENST00000553182.1_5'UTR	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	172	Glu-rich.				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						TTTAGAGCTTCAGCCTCTCGT	0.498																																																0													149	140	143					12																	49231830		2203	4300	6503	SO:0001583	missense	9416			AF026402	CCDS8770.1	12q13.11	2013-07-16				ENSG00000174243		"DEAD-boxes"	17347	protein-coding gene	gene with protein product		612172	"PRP28 homolog, yeast"			9409622, 9539711	Standard	NM_004818		Approved	prp28, U5-100K, PRPF28, SNRNP100	uc001rsm.3	Q9BUQ8		ENST00000308025.3:c.514G>A	chr12.hg19:g.49231830C>T	ENSP00000310723:p.Glu172Lys		B2R600|B4DH15|O43188	Missense_Mutation	SNP	ENST00000308025.3	hg19	CCDS8770.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.450245	0.84101	.	.	ENSG00000174243	ENST00000550834;ENST00000308025;ENST00000552512	T	0.22945	1.93	5.15	5.15	0.70609	.	0.055638	0.64402	D	0.000001	T	0.20333	0.0489	L	0.36672	1.1	0.58432	D	0.999999	P	0.39480	0.675	B	0.34093	0.175	T	0.03231	-1.1058	10	0.21014	T	0.42	-10.372	17.5534	0.87884	0.0:1.0:0.0:0.0	.	172	Q9BUQ8	DDX23_HUMAN	K	16;172;172	ENSP00000310723:E172K	ENSP00000310723:E172K	E	-	1	0	DDX23	47518097	1.000000	0.71417	0.999000	0.59377	0.954000	0.61252	7.411000	0.80078	2.676000	0.91093	0.563000	0.77884	GAA		0.498	DDX23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408897.2	NM_004818		T	49231830	C	T	49231830	3	4	671	1	0	0	0	0	1	0	0	0	4352	835	29	2	1996	2	DDX23	12	49231830	Missense_Mutation	SNP	C	TCGA-HE-7130-01A-11D-1961-08	8809611	49231830	84620065	88	36843											
SPATS2	65244	hgsc.bcm.edu	37	12	49916614	49916614	+	Missense_Mutation	SNP	G	G	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr12:49916614G>C	ENST00000553127.1	+	13	1602	c.1089G>C	c.(1087-1089)aaG>aaC	p.K363N	SPATS2_ENST00000321898.6_Missense_Mutation_p.K363N|SPATS2_ENST00000552918.1_Missense_Mutation_p.K363N			Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	363						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						CCCTAAAGAAGAGCATTGATT	0.448																																																0													145	125	132					12																	49916614		2203	4300	6503	SO:0001583	missense	65244			AK023179	CCDS31794.1	12q13.12	2009-06-12							18650	protein-coding gene	gene with protein product		611667				11944913, 17989879	Standard	NM_023071		Approved	SPATA10, SCR59, FLJ13117	uc001rud.2	Q86XZ4		ENST00000553127.1:c.1089G>C	chr12.hg19:g.49916614G>C	ENSP00000448228:p.Lys363Asn		A8K8G9|Q9H7D4|Q9H8Y7|Q9H8Z8	Missense_Mutation	SNP	ENST00000553127.1	hg19	CCDS31794.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.725778	0.69074	.	.	ENSG00000123352	ENST00000553127;ENST00000321898;ENST00000552918;ENST00000395063	.	.	.	5.84	5.84	0.93424	.	0.215681	0.51477	D	0.000085	T	0.62097	0.2400	L	0.56769	1.78	0.80722	D	1	P	0.42161	0.772	P	0.49528	0.614	T	0.59139	-0.7510	9	0.38643	T	0.18	-13.4976	11.3109	0.49364	0.0822:0.0:0.9178:0.0	.	363	Q86XZ4	SPAS2_HUMAN	N	363	.	ENSP00000326841:K363N	K	+	3	2	SPATS2	48202881	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.162000	0.42367	2.937000	0.99478	0.650000	0.86243	AAG		0.448	SPATS2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404023.1	NM_023071		C	49916614	G	C	49916614	3	2	671	1	0	0	0	0	1	0	0	0	15024	933	33	4	1127	4	SPATS2	12	49916614	Missense_Mutation	SNP	G	TCGA-HE-7130-01A-11D-1961-08	684784	49916614	83935281	89	36844											
DIP2B	57609	hgsc.bcm.edu	37	12	51019819	51019819	+	Missense_Mutation	SNP	C	C	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr12:51019819C>A	ENST00000301180.5	+	2	195	c.161C>A	c.(160-162)cCg>cAg	p.P54Q		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	54	DMAP-interaction.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.P54Q(1)		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						CCTTACAGCCCGCAGACACAA	0.378																																																1	Substitution - Missense(1)	lung(1)											107	105	105					12																	51019819		2203	4300	6503	SO:0001583	missense	57609			AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.161C>A	chr12.hg19:g.51019819C>A	ENSP00000301180:p.Pro54Gln		Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP	ENST00000301180.5	hg19	CCDS31799.1	.	.	.	.	.	.	.	.	.	.	c	14.24	2.476710	0.44044	.	.	ENSG00000066084	ENST00000455310;ENST00000301180	T	0.46819	0.86	4.75	3.87	0.44632	DMAP1-binding (1);	0.212294	0.49916	D	0.000135	T	0.46756	0.1409	L	0.49350	1.555	0.37755	D	0.926104	B;B	0.32800	0.385;0.182	B;B	0.41723	0.365;0.147	T	0.54430	-0.8295	10	0.56958	D	0.05	-5.0148	9.2742	0.37690	0.0:0.9016:0.0:0.0984	.	54;54	Q9P265;E9PHD6	DIP2B_HUMAN;.	Q	54	ENSP00000301180:P54Q	ENSP00000301180:P54Q	P	+	2	0	DIP2B	49306086	0.994000	0.37717	0.994000	0.49952	0.851000	0.48451	3.511000	0.53400	1.369000	0.46134	-0.213000	0.12676	CCG		0.378	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602		A	51019819	C	A	51019819	3	1	671	1	0	0	0	0	1	0	0	0	4530	652	23	4	167	4	DIP2B	12	51019819	Missense_Mutation	SNP	C	TCGA-HE-7130-01A-11D-1961-08	1103205	51019819	82832076	90	36845											
RARG	5916	hgsc.bcm.edu	37	12	53607847	53607847	+	Missense_Mutation	SNP	A	A	G			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr12:53607847A>G	ENST00000425354.2	-	7	1296	c.809T>C	c.(808-810)aTc>aCc	p.I270T	RARG_ENST00000543726.1_Missense_Mutation_p.I248T|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000327550.3_Missense_Mutation_p.I198T|RARG_ENST00000394426.1_Missense_Mutation_p.I270T|RARG_ENST00000338561.5_Missense_Mutation_p.I259T	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	270	Ligand-binding.				anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|embryonic camera-type eye development (GO:0031076)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|face development (GO:0060324)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage chondrocyte growth (GO:0003430)|Harderian gland development (GO:0070384)|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)|neural tube closure (GO:0001843)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of programmed cell death (GO:0043068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell size (GO:0008361)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|retinal pigment epithelium development (GO:0003406)|retinoic acid receptor signaling pathway (GO:0048384)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)	integral component of membrane (GO:0016021)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|retinoic acid receptor activity (GO:0003708)|retinoid X receptor binding (GO:0046965)|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)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tazarotene(DB00799)|Tretinoin(DB00755)	ACTTACCAGGATATCTAGGCA	0.532											OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													185	185	185					12																	53607847		2203	4300	6503	SO:0001583	missense	5916			M57707	CCDS8850.1, CCDS41790.1, CCDS58236.1, CCDS58237.1	12q13	2013-01-16			ENSG00000172819	ENSG00000172819		"Nuclear hormone receptors"	9866	protein-coding gene	gene with protein product		180190				1849262	Standard	NM_001042728		Approved	RARC, NR1B3	uc001scf.3	P13631	OTTHUMG00000048077	ENST00000425354.2:c.809T>C	chr12.hg19:g.53607847A>G	ENSP00000388510:p.Ile270Thr	993	B7Z492|B7Z4F1|B7ZAE4|J3KNP6|P22932|Q15281|Q52LZ8|Q9BYX8|Q9H1I3|Q9UJ38	Missense_Mutation	SNP	ENST00000425354.2	hg19	CCDS8850.1	.	.	.	.	.	.	.	.	.	.	A	19.87	3.906612	0.72868	.	.	ENSG00000172819	ENST00000425354;ENST00000394426;ENST00000538479;ENST00000327550;ENST00000338561;ENST00000543726;ENST00000550265	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	5.37	5.37	0.77165	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	T	0.65657	0.2712	M	0.79258	2.445	0.80722	D	1	D;D;D;D	0.89917	1.0;0.996;1.0;1.0	D;D;D;D	0.97110	1.0;0.993;1.0;0.999	T	0.70447	-0.4869	10	0.87932	D	0	.	14.6593	0.68858	1.0:0.0:0.0:0.0	.	307;248;270;259	F8VR45;B7Z4F1;P13631;F1D8P1	.;.;RARG_HUMAN;.	T	270;270;32;198;259;248;307	ENSP00000388510:I270T;ENSP00000377947:I270T;ENSP00000332695:I198T;ENSP00000343698:I259T;ENSP00000444335:I248T	ENSP00000332695:I198T	I	-	2	0	RARG	51894114	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	9.034000	0.93747	2.171000	0.68590	0.460000	0.39030	ATC		0.532	RARG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109404.2	NM_000966		G	53607847	A	G	53607847	3	3	671	1	0	0	0	0	1	0	0	0	13060	333	12	3	571	3	RARG	12	53607847	Missense_Mutation	SNP	A	TCGA-HE-7130-01A-11D-1961-08	2588028	53607847	80244048	91	36846											
DPY19L2	283417	hgsc.bcm.edu	37	12	64061939	64061939	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr12:64061939G>A	ENST00000324472.4	-	1	418	c.235C>T	c.(235-237)Ctc>Ttc	p.L79F	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	79					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		AAGGGGCCGAGAAGAAAGGTC	0.602																																																0													74	80	78					12																	64061939		2203	4300	6503	SO:0001583	missense	283417				CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"spermatogenesis associated 34"	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.235C>T	chr12.hg19:g.64061939G>A	ENSP00000315988:p.Leu79Phe		A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Missense_Mutation	SNP	ENST00000324472.4	hg19	CCDS31851.1	.	.	.	.	.	.	.	.	.	.	G	3.843	-0.033397	0.07543	.	.	ENSG00000177990	ENST00000324472;ENST00000542209	T;T	0.45668	0.95;0.89	1.61	0.631	0.17699	.	.	.	.	.	T	0.26231	0.0640	L	0.32530	0.975	0.09310	N	0.999999	B	0.32653	0.379	B	0.30029	0.11	T	0.14643	-1.0465	8	.	.	.	.	5.6322	0.17516	0.0:0.3487:0.6513:0.0	.	79	Q6NUT2	D19L2_HUMAN	F	79	ENSP00000315988:L79F;ENSP00000444932:L79F	.	L	-	1	0	DPY19L2	62348206	0.000000	0.05858	0.010000	0.14722	0.121000	0.20230	0.247000	0.18179	0.202000	0.20498	0.195000	0.17529	CTC		0.602	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812		A	64061939	G	A	64061939	3	1	671	1	0	0	0	0	1	0	0	0	4743	942	33	2	2129	2	DPY19L2	12	64061939	Missense_Mutation	SNP	G	TCGA-HE-7130-01A-11D-1961-08	10454092	64061939	69789956	92	36847											
LLPH	84298	hgsc.bcm.edu	37	12	66522754	66522754	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr12:66522754G>A	ENST00000266604.2	-	2	203	c.133C>T	c.(133-135)Caa>Taa	p.Q45*	TMBIM4_ENST00000556010.1_3'UTR|TMBIM4_ENST00000539652.1_3'UTR|RP11-745O10.2_ENST00000510317.2_RNA|LLPH_ENST00000446587.2_Nonsense_Mutation_p.Q45*	NM_032338.3	NP_115714.1	Q9BRT6	LLPH_HUMAN	LLP homolog, long-term synaptic facilitation (Aplysia)	45	Lys-rich.						poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|skin(1)	5						GCTATCTCTTGAACATCTTTC	0.403																																																0													122	112	115					12																	66522754		2203	4297	6500	SO:0001587	stop_gained	84298			AK057947	CCDS8974.1	12q14.3	2014-05-09	2008-10-02	2008-10-02	ENSG00000139233	ENSG00000139233			28229	protein-coding gene	gene with protein product	"human LAPS18-like protein"		"chromosome 12 open reading frame 31"	C12orf31		12477932	Standard	NM_032338		Approved	MGC14817, hLLP	uc010ssw.2	Q9BRT6	OTTHUMG00000168959	ENST00000266604.2:c.133C>T	chr12.hg19:g.66522754G>A	ENSP00000266604:p.Gln45*		Q3B766	Nonsense_Mutation	SNP	ENST00000266604.2	hg19	CCDS8974.1	.	.	.	.	.	.	.	.	.	.	G	32	5.127434	0.94473	.	.	ENSG00000139233	ENST00000266604;ENST00000446587	.	.	.	4.13	-0.482	0.12078	.	0.626869	0.17801	N	0.161575	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-5.9384	6.7866	0.23677	0.0:0.1983:0.3284:0.4734	.	.	.	.	X	45	.	.	Q	-	1	0	LLPH	64809021	0.974000	0.33945	0.987000	0.45799	0.865000	0.49528	0.701000	0.25616	0.090000	0.17273	0.467000	0.42956	CAA		0.403	LLPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401752.1	NM_032338		A	66522754	G	A	66522754	4	1	671	1	0	0	0	0	0	1	0	0	8837	1299	45	2	264	2	LLPH	12	66522754	Nonsense_Mutation	SNP	G	TCGA-HE-7130-01A-11D-1961-08	2460815	66522754	67329141	93	36848											
AMDHD1	144193	hgsc.bcm.edu	37	12	96354342	96354342	+	Missense_Mutation	SNP	G	G	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr12:96354342G>C	ENST00000266736.2	+	5	860	c.754G>C	c.(754-756)Gat>Cat	p.D252H		NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	252					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)	imidazolonepropionase activity (GO:0050480)|metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						ACGTGGAAAAGATATAGGGTT	0.428																																																0													122	117	118					12																	96354342		2203	4300	6503	SO:0001583	missense	144193			AB075878	CCDS9057.1	12q23.1	2006-02-02				ENSG00000139344			28577	protein-coding gene	gene with protein product							Standard	NM_152435		Approved	MGC35366	uc001tel.2	Q96NU7	OTTHUMG00000170353	ENST00000266736.2:c.754G>C	chr12.hg19:g.96354342G>C	ENSP00000266736:p.Asp252His		A8K463|Q68CI8	Missense_Mutation	SNP	ENST00000266736.2	hg19	CCDS9057.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.540809	0.45280	.	.	ENSG00000139344	ENST00000266736	T	0.46063	0.88	5.55	4.65	0.58169	Metal-dependent hydrolase, composite domain (1);	0.384940	0.33235	N	0.005136	T	0.49660	0.1570	L	0.60957	1.885	0.34446	D	0.700188	P	0.40107	0.703	P	0.47528	0.549	T	0.65340	-0.6192	10	0.54805	T	0.06	-0.0155	13.7543	0.62926	0.0749:0.0:0.9251:0.0	.	252	Q96NU7	HUTI_HUMAN	H	252	ENSP00000266736:D252H	ENSP00000266736:D252H	D	+	1	0	AMDHD1	94878473	1.000000	0.71417	0.605000	0.28930	0.004000	0.04260	4.953000	0.63624	1.447000	0.47661	0.655000	0.94253	GAT		0.428	AMDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408640.1	NM_152435		C	96354342	G	C	96354342	3	2	671	1	0	0	0	0	1	0	0	0	567	942	33	4	772	4	AMDHD1	12	96354342	Missense_Mutation	SNP	G	TCGA-HE-7130-01A-11D-1961-08	29831588	96354342	37497553	94	36849											
UTP14C	9724	hgsc.bcm.edu	37	13	52603705	52603705	+	Silent	SNP	G	G	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr13:52603705G>C	ENST00000521776.2	+	2	1498	c.765G>C	c.(763-765)gtG>gtC	p.V255V	ALG11_ENST00000521508.1_3'UTR|ALG11_ENST00000523764.1_3'UTR	NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	255					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)		ACAAAGTCGTGAAGAAAGGAA	0.433																																																0													89	88	88					13																	52603705		2203	4300	6503	SO:0001819	synonymous_variant	9724			D87455	CCDS31978.1	13q12.2-q13.3	2010-11-23	2004-06-15	2004-06-16	ENSG00000253797	ENSG00000253797			20321	protein-coding gene	gene with protein product		608969	"KIAA0266"	KIAA0266		9039502, 16354793	Standard	NM_021645		Approved	2700066J21Rik	uc021rjw.1	Q5TAP6	OTTHUMG00000164353	ENST00000521776.2:c.765G>C	chr13.hg19:g.52603705G>C			Q5FWG3|Q92555	Silent	SNP	ENST00000521776.2	hg19	CCDS31978.1																																																																																				0.433	UTP14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045049.2	NM_021645		C	52603705	G	C	52603705	2	2	671	1	0	0	0	0	0	0	0	1	17101	1277	45	4		4	UTP14C	13	52603705	Silent	SNP	G	TCGA-HE-7130-01A-11D-1961-08		52603705	62566173	95	36850											
OLFM4	10562	hgsc.bcm.edu	37	13	53624805	53624805	+	Missense_Mutation	SNP	G	G	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr13:53624805G>C	ENST00000219022.2	+	5	1510	c.1432G>C	c.(1432-1434)Gtg>Ctg	p.V478L		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	478	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)		GCAGGAAAAAGTGCAGAGCAT	0.368																																																0													108	108	108					13																	53624805		2203	4300	6503	SO:0001583	missense	10562			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.1432G>C	chr13.hg19:g.53624805G>C	ENSP00000219022:p.Val478Leu		O95362|Q5VWG0|Q86T22	Missense_Mutation	SNP	ENST00000219022.2	hg19	CCDS9440.1	.	.	.	.	.	.	.	.	.	.	G	10.48	1.362917	0.24684	.	.	ENSG00000102837	ENST00000219022	T	0.14022	2.54	5.64	-2.23	0.06930	Olfactomedin-like (3);	0.818724	0.11361	N	0.571904	T	0.03959	0.0111	N	0.03268	-0.37	0.18873	N	0.999988	B	0.06786	0.001	B	0.15484	0.013	T	0.43426	-0.9392	10	0.15499	T	0.54	.	2.2285	0.03991	0.2383:0.3579:0.2837:0.1201	.	478	Q6UX06	OLFM4_HUMAN	L	478	ENSP00000219022:V478L	ENSP00000219022:V478L	V	+	1	0	OLFM4	52522806	0.000000	0.05858	0.030000	0.17652	0.978000	0.69477	-0.374000	0.07484	-0.094000	0.12374	0.585000	0.79938	GTG		0.368	OLFM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045112.2	NM_006418		C	53624805	G	C	53624805	3	2	671	1	0	0	0	0	1	0	0	0	10857	1029	36	4	1450	4	OLFM4	13	53624805	Missense_Mutation	SNP	G	TCGA-HE-7130-01A-11D-1961-08	1021100	53624805	61545073	96	36851											
PCDH20	64881	hgsc.bcm.edu	37	13	61986466	61986467	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr13:61986466_61986467CC>TT	ENST00000409186.1	-	5	3870_3871	c.1765_1766GG>AA	c.(1765-1767)GGa>AAa	p.G589K	PCDH20_ENST00000409204.4_Missense_Mutation_p.G589K			Q8N6Y1	PCD20_HUMAN	protocadherin 20	589	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)|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)		TGTCAGAATTCCTGTGACACTG	0.455																																																0																																										SO:0001583	missense	64881			AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"Cadherins / Protocadherins : Non-clustered"	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.1765_1766delinsTT	chr13.hg19:g.61986466_61986467delinsTT	ENSP00000386653:p.Gly589Lys		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	ENST00000409186.1	hg19	CCDS9442.2																																																																																				0.455	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		TT	61986467	CC	TT	61986466	3	4	671	1	0	0	0	0	1	0	0	0	11517	855	30	2	1093	2	PCDH20	13	61986466	Missense_Mutation	DNP	CC	TCGA-HE-7130-01A-11D-1961-08	8361661	61986466	53183412	97	36852											
CIDEB	27141	hgsc.bcm.edu	37	14	24775203	24775203	+	Silent	SNP	G	G	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr14:24775203G>C	ENST00000336557.5	-	7	1779	c.477C>G	c.(475-477)ctC>ctG	p.L159L	NOP9_ENST00000267425.3_3'UTR|CIDEB_ENST00000258807.5_Silent_p.L159L|LTB4R2_ENST00000528054.1_5'Flank|CIDEB_ENST00000554411.1_Silent_p.L159L			Q9UHD4	CIDEB_HUMAN	cell death-inducing DFFA-like effector b	159					apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|regulation of apoptotic process (GO:0042981)	cytosol (GO:0005829)|lipid particle (GO:0005811)	identical protein binding (GO:0042802)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0181)		TCATAGAGTAGAGCCCGTAGA	0.488																																																0													141	134	136					14																	24775203		2203	4300	6503	SO:0001819	synonymous_variant	27141			AF190901	CCDS32056.1	14q12	2012-09-20			ENSG00000136305	ENSG00000136305			1977	protein-coding gene	gene with protein product		604441				10619428, 10837461	Standard	XM_005267540		Approved		uc001woo.3	Q9UHD4	OTTHUMG00000171555	ENST00000336557.5:c.477C>G	chr14.hg19:g.24775203G>C			D3DS73|Q546V8|Q9NNW9	Silent	SNP	ENST00000336557.5	hg19	CCDS32056.1																																																																																				0.488	CIDEB-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414120.1			C	24775203	G	C	24775203	2	2	671	1	0	0	0	0	0	0	0	1	3428	929	33	4		4	CIDEB	14	24775203	Silent	SNP	G	TCGA-HE-7130-01A-11D-1961-08		24775203	82574337	98	36853											
FANCM	57697	hgsc.bcm.edu	37	14	45642339	45642339	+	Missense_Mutation	SNP	C	C	G			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr14:45642339C>G	ENST00000267430.5	+	13	2327	c.2242C>G	c.(2242-2244)Caa>Gaa	p.Q748E	FANCM_ENST00000542564.2_Missense_Mutation_p.Q722E	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	748					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						GCCTACACATCAAGTTGATCA	0.398								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																							0													160	144	150					14																	45642339		2203	4300	6503	SO:0001583	missense	57697	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	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.2242C>G	chr14.hg19:g.45642339C>G	ENSP00000267430:p.Gln748Glu		B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	hg19	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	C	2.703	-0.270591	0.05716	.	.	ENSG00000187790	ENST00000267430;ENST00000542564;ENST00000556250	T;T;T	0.18338	2.83;2.83;2.22	5.79	5.79	0.91817	.	1.031910	0.07642	N	0.930388	T	0.18841	0.0452	L	0.60455	1.87	0.09310	N	1	B;B	0.28233	0.204;0.204	B;B	0.21708	0.036;0.033	T	0.21999	-1.0229	10	0.23302	T	0.38	.	9.037	0.36293	0.1484:0.7768:0.0:0.0748	.	722;748	B2RTQ9;Q8IYD8	.;FANCM_HUMAN	E	748;722;264	ENSP00000267430:Q748E;ENSP00000442493:Q722E;ENSP00000452033:Q264E	ENSP00000267430:Q748E	Q	+	1	0	FANCM	44712089	0.001000	0.12720	0.103000	0.21229	0.402000	0.30811	1.154000	0.31688	2.746000	0.94184	0.561000	0.74099	CAA		0.398	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		G	45642339	C	G	45642339	3	3	671	1	0	0	0	0	1	0	0	0	5673	827	29	4	2292	4	FANCM	14	45642339	Missense_Mutation	SNP	C	TCGA-HE-7130-01A-11D-1961-08	20867136	45642339	61707201	99	36854											
EML5	161436	hgsc.bcm.edu	37	14	89161727	89161727	+	Missense_Mutation	SNP	C	C	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr14:89161727C>T	ENST00000380664.5	-	16	2415	c.2416G>A	c.(2416-2418)Gga>Aga	p.G806R	EML5_ENST00000352093.5_Missense_Mutation_p.G806R|EML5_ENST00000554922.1_Missense_Mutation_p.G806R			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	806						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						AGTTTCTCTCCTTTCTTCCAG	0.338																																																0													88	79	82					14																	89161727		1843	4083	5926	SO:0001583	missense	161436			AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"WD repeat domain containing"	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.2416G>A	chr14.hg19:g.89161727C>T	ENSP00000370039:p.Gly806Arg		B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Missense_Mutation	SNP	ENST00000380664.5	hg19	CCDS45148.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.718501	0.89205	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	T;T;T	0.65916	-0.18;1.86;-0.18	4.86	4.86	0.63082	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.80391	0.4614	M	0.81239	2.535	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81899	-0.0721	10	0.51188	T	0.08	-15.3073	17.7789	0.88517	0.0:1.0:0.0:0.0	.	806	Q05BV3	EMAL5_HUMAN	R	806	ENSP00000451998:G806R;ENSP00000298315:G806R;ENSP00000370039:G806R	ENSP00000298315:G806R	G	-	1	0	EML5	88231480	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.320000	0.79064	2.526000	0.85167	0.467000	0.42956	GGA		0.338	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1			T	89161727	C	T	89161727	3	4	671	1	0	0	0	0	1	0	0	0	5102	690	24	2	3629	2	EML5	14	89161727	Missense_Mutation	SNP	C	TCGA-HE-7130-01A-11D-1961-08	43519388	89161727	18187813	100	36855											
MARK3	4140	hgsc.bcm.edu	37	14	103932113	103932113	+	Missense_Mutation	SNP	G	G	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr14:103932113G>C	ENST00000429436.2	+	8	1270	c.760G>C	c.(760-762)Gat>Cat	p.D254H	MARK3_ENST00000561071.1_Intron|MARK3_ENST00000416682.2_Missense_Mutation_p.D277H|MARK3_ENST00000216288.7_Missense_Mutation_p.D254H|MARK3_ENST00000303622.9_Missense_Mutation_p.D254H|MARK3_ENST00000335102.5_Missense_Mutation_p.D277H|MARK3_ENST00000553942.1_Missense_Mutation_p.D254H|MARK3_ENST00000440884.3_Intron	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	254	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			ACTTCCCTTTGATGGGCAAAA	0.403																																																0													64	65	65					14																	103932113		1975	4183	6158	SO:0001583	missense	4140			M80359	CCDS41993.1, CCDS45165.1, CCDS45166.1, CCDS45167.1, CCDS55947.1	14q32.32	2014-04-07			ENSG00000075413	ENSG00000075413			6897	protein-coding gene	gene with protein product		602678				9533022	Standard	NM_002376		Approved	CTAK1, KP78, PAR-1A	uc001ymz.4	P27448	OTTHUMG00000171789	ENST00000429436.2:c.760G>C	chr14.hg19:g.103932113G>C	ENSP00000411397:p.Asp254His		O60219|Q86TT8|Q8TB41|Q8WX83|Q96RG1|Q9UMY9|Q9UN34	Missense_Mutation	SNP	ENST00000429436.2	hg19	CCDS45165.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.1|26.1	4.702752|4.702752	0.88924|0.88924	.|.	.|.	ENSG00000075413|ENSG00000075413	ENST00000335102;ENST00000416682;ENST00000429436;ENST00000303622;ENST00000216288;ENST00000553942|ENST00000554627	T;T;T;T;T;T|.	0.66280|.	-0.2;-0.2;-0.2;-0.2;-0.2;-0.2|.	5.84|5.84	5.84|5.84	0.93424|0.93424	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.61185|0.61185	0.2327|0.2327	L|L	0.33189|0.33189	0.99|0.99	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|.	0.997;0.996;0.999;0.998;1.0;0.995|.	T|T	0.53208|0.53208	-0.8471|-0.8471	10|5	0.87932|.	D|.	0|.	.|.	20.1454|20.1454	0.98074|0.98074	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	277;277;254;254;254;254|.	P27448-7;P27448-2;P27448-6;P27448;P27448-4;P27448-3|.	.;.;.;MARK3_HUMAN;.;.|.	H|F	277;277;254;254;254;254|21	ENSP00000335347:D277H;ENSP00000408092:D277H;ENSP00000411397:D254H;ENSP00000303698:D254H;ENSP00000216288:D254H;ENSP00000450772:D254H|.	ENSP00000216288:D254H|.	D|L	+|+	1|3	0|2	MARK3|MARK3	103001866|103001866	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.996000|0.996000	0.88848|0.88848	9.807000|9.807000	0.99171|0.99171	2.748000|2.748000	0.94277|0.94277	0.650000|0.650000	0.86243|0.86243	GAT|TTG		0.403	MARK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415144.1	NM_001128918		C	103932113	G	C	103932113	3	2	671	1	0	0	0	0	1	0	0	0	9316	1290	45	4	790	4	MARK3	14	103932113	Missense_Mutation	SNP	G	TCGA-HE-7130-01A-11D-1961-08	14770386	103932113	3417427	101	36856											
AHNAK2	113146	hgsc.bcm.edu	37	14	105409722	105409722	+	Silent	SNP	G	G	A	rs372712364	byFrequency	TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr14:105409722G>A	ENST00000333244.5	-	7	12185	c.12066C>T	c.(12064-12066)tcC>tcT	p.S4022S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4022						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)			CCAGGTCAGCGGAAGGGGGCT	0.657													.|||	2	0.000399361	0.0008	0.0014	5008	,	,		17513	0.0		0.0	False		,,,				2504	0.0															0													109	115	113					14																	105409722		1954	4133	6087	SO:0001819	synonymous_variant	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.12066C>T	chr14.hg19:g.105409722G>A			Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	hg19	CCDS45177.1																																																																																				0.657	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		A	105409722	G	A	105409722	2	1	671	1	0	0	0	0	0	0	0	1	415	1103	39	1		1	AHNAK2	14	105409722	Silent	SNP	G	TCGA-HE-7130-01A-11D-1961-08	1477609	105409722	1939818	102	36857											
ZFYVE19	84936	hgsc.bcm.edu	37	15	41099974	41099974	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr15:41099974G>A	ENST00000355341.4	+	1	688	c.187G>A	c.(187-189)Gat>Aat	p.D63N	DNAJC17_ENST00000220496.4_5'Flank|ZFYVE19_ENST00000570108.1_Intron|ZFYVE19_ENST00000564258.1_Intron|ZFYVE19_ENST00000299173.10_Missense_Mutation_p.D63N|ZFYVE19_ENST00000336455.5_Intron|ZFYVE19_ENST00000563530.1_3'UTR	NM_001077268.1	NP_001070736.1	Q96K21	ANCHR_HUMAN	zinc finger, FYVE domain containing 19	63					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)		TGGCCGGCGTGATCTCAGCTC	0.672																																																0													36	46	42					15																	41099974		2053	4206	6259	SO:0001583	missense	84936			AK027746	CCDS42025.1, CCDS58353.1, CCDS58354.1, CCDS58355.1	15q14	2008-05-02				ENSG00000166140		"Zinc fingers, FYVE domain containing"	20758	protein-coding gene	gene with protein product							Standard	NM_001077268		Approved	FLJ14840	uc031qrk.1	Q96K21		ENST00000355341.4:c.187G>A	chr15.hg19:g.41099974G>A	ENSP00000347498:p.Asp63Asn		B3KVB2|C9JNF4|H3BUF9|Q86WC2|Q8WU96	Missense_Mutation	SNP	ENST00000355341.4	hg19	CCDS42025.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.756051	0.49362	.	.	ENSG00000166140	ENST00000355341;ENST00000299173	T;T	0.37058	1.23;1.22	4.57	1.69	0.24217	.	1.328960	0.05087	N	0.484506	T	0.25680	0.0625	N	0.19112	0.55	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.001	T	0.29610	-1.0006	10	0.72032	D	0.01	1.3232	6.5318	0.22332	0.2972:0.0:0.7028:0.0	.	63;63	Q96K21-3;Q96K21	.;ZFY19_HUMAN	N	63	ENSP00000347498:D63N;ENSP00000299173:D63N	ENSP00000299173:D63N	D	+	1	0	ZFYVE19	38887266	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	1.012000	0.29924	0.425000	0.26087	0.603000	0.83216	GAT		0.672	ZFYVE19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418996.1	NM_032850		A	41099974	G	A	41099974	3	1	671	1	0	0	0	0	1	0	0	0	17670	1290	45	2	189	2	ZFYVE19	15	41099974	Missense_Mutation	SNP	G	TCGA-HE-7130-01A-11D-1961-08		41099974	61431418	103	36858											
INO80	54617	hgsc.bcm.edu	37	15	41384347	41384347	+	Missense_Mutation	SNP	C	C	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr15:41384347C>A	ENST00000361937.3	-	5	839	c.415G>T	c.(415-417)Gat>Tat	p.D139Y	INO80_ENST00000401393.3_Missense_Mutation_p.D139Y			Q9ULG1	INO80_HUMAN	INO80 complex subunit	139	Assembles INO80 complex module with putative regulatory components INO80E, INO80F, UCHL5, NFRKB, MCRS1 and IN80D.				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						CTCTGAGAATCAGCCTCGCTG	0.378																																																0													123	114	117					15																	41384347		2203	4300	6503	SO:0001583	missense	54617			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.415G>T	chr15.hg19:g.41384347C>A	ENSP00000355205:p.Asp139Tyr		A6H8X4|Q9NTG6	Missense_Mutation	SNP	ENST00000361937.3	hg19	CCDS10071.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.111190	0.56398	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	D;D	0.92752	-3.1;-3.1	5.37	5.37	0.77165	.	0.099076	0.64402	D	0.000002	D	0.92612	0.7653	L	0.59436	1.845	0.80722	D	1	P	0.51791	0.948	P	0.47626	0.552	D	0.93222	0.6609	10	0.72032	D	0.01	.	19.3098	0.94182	0.0:1.0:0.0:0.0	.	139	Q9ULG1	INO80_HUMAN	Y	139	ENSP00000355205:D139Y;ENSP00000384686:D139Y	ENSP00000355205:D139Y	D	-	1	0	INO80	39171639	1.000000	0.71417	1.000000	0.80357	0.070000	0.16714	6.847000	0.75404	2.800000	0.96347	0.455000	0.32223	GAT		0.378	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	NM_017553		A	41384347	C	A	41384347	3	1	671	1	0	0	0	0	1	0	0	0	7748	826	29	4	4383	4	INO80	15	41384347	Missense_Mutation	SNP	C	TCGA-HE-7130-01A-11D-1961-08	284373	41384347	61147045	104	36859											
AKAP13	11214	hgsc.bcm.edu	37	15	86269660	86269660	+	Silent	SNP	C	C	G			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr15:86269660C>G	ENST00000394518.2	+	27	6860	c.6765C>G	c.(6763-6765)ctC>ctG	p.L2255L	RP11-158M2.2_ENST00000561417.1_RNA|AKAP13_ENST00000361243.2_Silent_p.L2259L|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000394510.2_Silent_p.L500L	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2255	Interaction with ESR1.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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						CAGTTCTTCTCACTGACATTT	0.338																																					Melanoma(94;603 1453 3280 32295 32951)											0													184	186	186					15																	86269660		2202	4298	6500	SO:0001819	synonymous_variant	11214			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"A-kinase anchor proteins", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	371	protein-coding gene	gene with protein product		604686	"lymphoid blast crisis oncogene"	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.6765C>G	chr15.hg19:g.86269660C>G			Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Silent	SNP	ENST00000394518.2	hg19	CCDS32319.1																																																																																				0.338	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		G	86269660	C	G	86269660	2	3	671	1	0	0	0	0	0	0	0	1	449	813	29	4		4	AKAP13	15	86269660	Silent	SNP	C	TCGA-HE-7130-01A-11D-1961-08	44885313	86269660	16261732	105	36860											
ABAT	18	hgsc.bcm.edu	37	16	8844348	8844348	+	Missense_Mutation	SNP	G	G	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr16:8844348G>T	ENST00000396600.2	+	5	1206	c.268G>T	c.(268-270)Ggc>Tgc	p.G90C	ABAT_ENST00000425191.2_Missense_Mutation_p.G90C|ABAT_ENST00000268251.8_Missense_Mutation_p.G90C|ABAT_ENST00000567812.1_Missense_Mutation_p.G105C|ABAT_ENST00000569156.1_Missense_Mutation_p.G90C	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	90					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)			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)	TGATGTGGACGGCAACCGAAT	0.463																																																0													200	180	187					16																	8844348		2197	4300	6497	SO:0001583	missense	18			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.268G>T	chr16.hg19:g.8844348G>T	ENSP00000379845:p.Gly90Cys		A8K386|Q16260|Q8N5W2|Q96BG2|Q99800	Missense_Mutation	SNP	ENST00000396600.2	hg19	CCDS10534.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.614365	0.87359	.	.	ENSG00000183044	ENST00000268251;ENST00000396600;ENST00000425191	D;D;D	0.91464	-2.85;-2.85;-2.85	5.93	5.93	0.95920	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.103605	0.64402	D	0.000004	D	0.97353	0.9134	H	0.97635	4.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98221	1.0478	10	0.87932	D	0	-11.4658	18.8949	0.92419	0.0:0.0:1.0:0.0	.	90	P80404	GABT_HUMAN	C	90	ENSP00000268251:G90C;ENSP00000379845:G90C;ENSP00000411916:G90C	ENSP00000268251:G90C	G	+	1	0	ABAT	8751849	1.000000	0.71417	0.997000	0.53966	0.881000	0.50899	7.497000	0.81536	2.803000	0.96430	0.650000	0.86243	GGC		0.463	ABAT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433620.2	NM_020686		T	8844348	G	T	8844348	3	4	671	1	0	0	0	0	1	0	0	0	27	1116	39	4	282	4	ABAT	16	8844348	Missense_Mutation	SNP	G	TCGA-HE-7130-01A-11D-1961-08		8844348	81510405	106	36861											
ZNF689	115509	hgsc.bcm.edu	37	16	30616559	30616559	+	Missense_Mutation	SNP	A	A	G			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr16:30616559A>G	ENST00000287461.3	-	3	866	c.529T>C	c.(529-531)Tac>Cac	p.Y177H	RP11-146F11.5_ENST00000563540.1_RNA|ZNF689_ENST00000566673.1_5'UTR	NM_138447.1	NP_612456.1	Q96CS4	ZN689_HUMAN	zinc finger protein 689	177					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)			GGGCAAGGGTAAGGCTTTTTT	0.617																																																0													73	78	77					16																	30616559		2197	4300	6497	SO:0001583	missense	115509			BC014000	CCDS10686.1	16p11.2	2013-01-08			ENSG00000156853	ENSG00000156853		"Zinc fingers, C2H2-type", "-"	25173	protein-coding gene	gene with protein product							Standard	NM_138447		Approved	FLJ90415	uc031qvq.1	Q96CS4	OTTHUMG00000132415	ENST00000287461.3:c.529T>C	chr16.hg19:g.30616559A>G	ENSP00000287461:p.Tyr177His		Q658J5	Missense_Mutation	SNP	ENST00000287461.3	hg19	CCDS10686.1	.	.	.	.	.	.	.	.	.	.	a	10.15	1.270760	0.23221	.	.	ENSG00000156853	ENST00000287461;ENST00000443190	T	0.60040	0.22	4.94	3.8	0.43715	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35495	N	0.003162	T	0.43567	0.1253	N	0.25332	0.735	0.32189	N	0.579329	B	0.18166	0.026	B	0.25614	0.062	T	0.54227	-0.8325	10	0.62326	D	0.03	-23.399	9.3707	0.38252	0.8409:0.0:0.0:0.159	.	177	Q96CS4	ZN689_HUMAN	H	177	ENSP00000287461:Y177H	ENSP00000287461:Y177H	Y	-	1	0	ZNF689	30524060	0.355000	0.24921	0.997000	0.53966	0.194000	0.23727	2.424000	0.44714	2.074000	0.62210	0.455000	0.32223	TAC		0.617	ZNF689-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255552.1	NM_138447		G	30616559	A	G	30616559	3	3	671	1	0	0	0	0	1	0	0	0	18099	362	13	3	977	3	ZNF689	16	30616559	Missense_Mutation	SNP	A	TCGA-HE-7130-01A-11D-1961-08	21772211	30616559	59738194	107	36862											
SRCAP	10847	hgsc.bcm.edu	37	16	30749163	30749163	+	Missense_Mutation	SNP	C	C	G			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr16:30749163C>G	ENST00000262518.4	+	34	8187	c.7802C>G	c.(7801-7803)tCt>tGt	p.S2601C	RP11-2C24.4_ENST00000483578.1_lincRNA|SRCAP_ENST00000344771.4_Missense_Mutation_p.S2443C|SRCAP_ENST00000395059.2_Missense_Mutation_p.S2539C	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2601	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)			AAGAACCTTTCTCTCACCCCT	0.552																																																0													79	68	72					16																	30749163		2197	4300	6497	SO:0001583	missense	10847			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.7802C>G	chr16.hg19:g.30749163C>G	ENSP00000262518:p.Ser2601Cys		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	hg19	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	C	7.548	0.662079	0.14645	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.91792	-2.9;-2.91;-2.91	4.88	3.85	0.44370	.	0.294453	0.24843	N	0.035160	D	0.83594	0.5288	N	0.08118	0	0.22728	N	0.9988	P;P	0.50156	0.932;0.758	P;B	0.46479	0.518;0.319	T	0.76427	-0.2963	10	0.62326	D	0.03	-9.0E-4	7.2792	0.26302	0.0:0.8786:0.0:0.1214	.	2539;2601	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	C	2601;2539;2443	ENSP00000262518:S2601C;ENSP00000378499:S2539C;ENSP00000343042:S2443C	ENSP00000262518:S2601C	S	+	2	0	SRCAP	30656664	0.483000	0.25956	0.998000	0.56505	0.666000	0.39218	0.172000	0.16704	2.543000	0.85770	0.467000	0.42956	TCT		0.552	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		G	30749163	C	G	30749163	3	3	671	1	0	0	0	0	1	0	0	0	15140	913	32	4	7928	4	SRCAP	16	30749163	Missense_Mutation	SNP	C	TCGA-HE-7130-01A-11D-1961-08	132604	30749163	59605590	108	36863											
CMTM2	146225	hgsc.bcm.edu	37	16	66614056	66614056	+	Missense_Mutation	SNP	G	G	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr16:66614056G>C	ENST00000268595.2	+	2	564	c.413G>C	c.(412-414)aGa>aCa	p.R138T	CMTM2_ENST00000379486.2_Intron|RP11-403P17.2_ENST00000568430.1_RNA	NM_144673.2	NP_653274.1	Q8TAZ6	CKLF2_HUMAN	CKLF-like MARVEL transmembrane domain containing 2	138	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212)		GCCATTCATAGATACATACCC	0.483																																																0													258	204	223					16																	66614056		2201	4300	6501	SO:0001583	missense	146225			BC025354	CCDS10814.1, CCDS56001.1	16q22.1-q22.3	2008-02-05	2005-11-08	2005-11-08	ENSG00000140932	ENSG00000140932			19173	protein-coding gene	gene with protein product		607885	"chemokine-like factor super family 2", "chemokine-like factor superfamily 2"	CKLFSF2			Standard	NM_001199317		Approved	MGC39436, FLJ25732	uc002ept.3	Q8TAZ6	OTTHUMG00000137501	ENST00000268595.2:c.413G>C	chr16.hg19:g.66614056G>C	ENSP00000268595:p.Arg138Thr		Q5I2A4|Q8N7E5	Missense_Mutation	SNP	ENST00000268595.2	hg19	CCDS10814.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.416443	0.83449	.	.	ENSG00000140932	ENST00000268595	T	0.35605	1.3	4.51	4.51	0.55191	Marvel (1);	0.000000	0.56097	D	0.000029	T	0.52661	0.1748	L	0.54323	1.7	0.35958	D	0.834422	D	0.89917	1.0	D	0.87578	0.998	T	0.57219	-0.7849	10	0.40728	T	0.16	20.5482	13.0353	0.58867	0.0:0.0:1.0:0.0	.	138	Q8TAZ6	CKLF2_HUMAN	T	138	ENSP00000268595:R138T	ENSP00000268595:R138T	R	+	2	0	CMTM2	65171557	1.000000	0.71417	0.997000	0.53966	0.404000	0.30871	2.341000	0.43983	2.786000	0.95864	0.561000	0.74099	AGA		0.483	CMTM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268808.1			C	66614056	G	C	66614056	3	2	671	1	0	0	0	0	1	0	0	0	3585	942	33	4	419	4	CMTM2	16	66614056	Missense_Mutation	SNP	G	TCGA-HE-7130-01A-11D-1961-08	35864893	66614056	23740697	109	36864											
AARS	16	hgsc.bcm.edu	37	16	70316659	70316659	+	Missense_Mutation	SNP	G	G	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr16:70316659G>C	ENST00000261772.8	-	2	151	c.8C>G	c.(7-9)tCt>tGt	p.S3C		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)		TGTTAGAGTAGAGTCCATCTT	0.388																																																0													119	117	118					16																	70316659		2198	4300	6498	SO:0001583	missense	16			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.8C>G	chr16.hg19:g.70316659G>C	ENSP00000261772:p.Ser3Cys			Missense_Mutation	SNP	ENST00000261772.8	hg19	CCDS32474.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.270776	0.59540	.	.	ENSG00000090861	ENST00000261772	T	0.64991	-0.13	5.56	1.06	0.20224	.	0.309320	0.37012	N	0.002288	T	0.54334	0.1852	L	0.39898	1.24	0.30179	N	0.800544	B	0.29085	0.232	B	0.38921	0.285	T	0.57353	-0.7826	10	0.66056	D	0.02	0.0292	8.518	0.33257	0.3543:0.0:0.6457:0.0	.	3	P49588	SYAC_HUMAN	C	3	ENSP00000261772:S3C	ENSP00000261772:S3C	S	-	2	0	AARS	68874160	0.401000	0.25303	0.169000	0.22859	0.874000	0.50279	3.302000	0.51849	0.212000	0.20703	0.591000	0.81541	TCT		0.388	AARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435021.2	NM_001605		C	70316659	G	C	70316659	3	2	671	1	0	0	0	0	1	0	0	0	19	942	33	4	2978	4	AARS	16	70316659	Missense_Mutation	SNP	G	TCGA-HE-7130-01A-11D-1961-08	3702603	70316659	20038094	110	36865											
PRPF8	10594	hgsc.bcm.edu	37	17	1586885	1586885	+	Missense_Mutation	SNP	G	G	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr17:1586885G>C	ENST00000572621.1	-	2	476	c.211C>G	c.(211-213)Cga>Gga	p.R71G	PRPF8_ENST00000304992.6_Missense_Mutation_p.R71G			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	71					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)		CCATGGTCTCGAATGATCTTC	0.478																																																0													210	180	190					17																	1586885		2203	4300	6503	SO:0001583	missense	10594			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.211C>G	chr17.hg19:g.1586885G>C	ENSP00000460348:p.Arg71Gly		O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	hg19	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	G	19.91	3.914983	0.72983	.	.	ENSG00000174231	ENST00000304992	T	0.44881	0.91	5.41	4.42	0.53409	Pre-mRNA-processing-splicing factor 8 (2);	0.000000	0.85682	D	0.000000	T	0.48295	0.1492	L	0.61218	1.895	0.80722	D	1	P	0.44241	0.829	P	0.45310	0.476	T	0.54510	-0.8283	10	0.72032	D	0.01	.	15.2921	0.73872	0.0:0.0:0.8586:0.1413	.	71	Q6P2Q9	PRP8_HUMAN	G	71	ENSP00000304350:R71G	ENSP00000304350:R71G	R	-	1	2	PRPF8	1533635	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	4.592000	0.61027	1.237000	0.43756	0.467000	0.42956	CGA		0.478	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			C	1586885	G	C	1586885	3	2	671	1	0	0	0	0	1	0	0	0	12580	1066	37	4	6960	4	PRPF8	17	1586885	Missense_Mutation	SNP	G	TCGA-HE-7130-01A-11D-1961-08		1586885	79608325	111	36866											
ZZEF1	23140	hgsc.bcm.edu	37	17	3926086	3926086	+	Missense_Mutation	SNP	G	G	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr17:3926086G>C	ENST00000381638.2	-	44	7253	c.7129C>G	c.(7129-7131)Cag>Gag	p.Q2377E		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2377							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						AAATCGGTCTGAAGGAAAGTA	0.498																																																0													95	85	88					17																	3926086		2203	4300	6503	SO:0001583	missense	23140			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.7129C>G	chr17.hg19:g.3926086G>C	ENSP00000371051:p.Gln2377Glu		A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	hg19	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	G	7.212	0.595598	0.13875	.	.	ENSG00000074755	ENST00000381638	T	0.19938	2.11	5.96	4.94	0.65067	.	0.473334	0.24301	N	0.039721	T	0.09598	0.0236	N	0.08118	0	0.27680	N	0.946471	B	0.02656	0.0	B	0.01281	0.0	T	0.15896	-1.0421	10	0.02654	T	1	-4.1226	13.6249	0.62159	0.0:0.1251:0.7598:0.1151	.	2377	O43149	ZZEF1_HUMAN	E	2377	ENSP00000371051:Q2377E	ENSP00000371051:Q2377E	Q	-	1	0	ZZEF1	3872835	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.220000	0.51207	2.832000	0.97577	0.655000	0.94253	CAG		0.498	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		C	3926086	G	C	3926086	3	2	671	1	0	0	0	0	1	0	0	0	18260	1299	45	4	1804	4	ZZEF1	17	3926086	Missense_Mutation	SNP	G	TCGA-HE-7130-01A-11D-1961-08	2339201	3926086	77269124	112	36867											
MPRIP	23164	hgsc.bcm.edu	37	17	17046031	17046031	+	Frame_Shift_Del	DEL	C	C	-	rs146439071		TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr17:17046031delC	ENST00000341712.4	+	8	987	c.987delC	c.(985-987)agcfs	p.S329fs	MPRIP_ENST00000395811.5_Frame_Shift_Del_p.S329fs|MPRIP_ENST00000444976.1_Frame_Shift_Del_p.S329fs|MPRIP_ENST00000395804.3_Frame_Shift_Del_p.S329fs			Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	329	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						CACCATCCAGCGACACACGCC	0.632																																																0													85	77	80					17																	17046031		2203	4300	6503	SO:0001589	frameshift_variant	23164			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.987delC	chr17.hg19:g.17046031delC	ENSP00000342379:p.Ser329fs		Q3KQZ5|Q5FB94|Q6DHW2|Q7Z5Y2|Q8N390|Q96G40	Frame_Shift_Del	DEL	ENST00000341712.4	hg19	CCDS32578.1																																																																																				0.632	MPRIP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131587.1	NM_015134		-	17046031	C	-	17046031	7	5	671	1	0	1	0	1	0	0	0	0	9745	767	27	0	1017	0	MPRIP	17	17046031	Frame_Shift_Del	DEL	C	TCGA-HE-7130-01A-11D-1961-08	13119945	17046031	64149179	113	36868											
IKZF3	22806	hgsc.bcm.edu	37	17	37949078	37949078	+	Missense_Mutation	SNP	C	C	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr17:37949078C>T	ENST00000346872.3	-	4	333	c.272G>A	c.(271-273)aGa>aAa	p.R91K	IKZF3_ENST00000535189.1_Missense_Mutation_p.R57K|IKZF3_ENST00000377952.2_Intron|IKZF3_ENST00000377945.3_Missense_Mutation_p.R91K|IKZF3_ENST00000439016.2_Missense_Mutation_p.R91K|IKZF3_ENST00000394189.2_Intron|IKZF3_ENST00000439167.2_Missense_Mutation_p.R57K|IKZF3_ENST00000346243.3_Missense_Mutation_p.R91K|IKZF3_ENST00000377944.3_Intron|IKZF3_ENST00000467757.1_Missense_Mutation_p.R91K|IKZF3_ENST00000351680.3_Missense_Mutation_p.R91K|IKZF3_ENST00000350532.3_Missense_Mutation_p.R91K|IKZF3_ENST00000377958.2_Intron	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	91					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)	p.E92fs*29(1)		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)			ATTATATTCTCTTGAATAGCT	0.383																																																1	Insertion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(1)											127	118	121					17																	37949078		2203	4300	6503	SO:0001583	missense	22806			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.272G>A	chr17.hg19:g.37949078C>T	ENSP00000344544:p.Arg91Lys		B4DVV5|Q69BL6|Q69BL7|Q69BL8|Q69BL9|Q69BM0|Q69BM1|Q69BM2|Q69BM3|Q69BM5|Q8N574|Q8WWQ9|Q8WWR0|Q8WWR1|Q8WWR2|Q8WWR3	Missense_Mutation	SNP	ENST00000346872.3	hg19	CCDS11346.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.24|18.24	3.579420|3.579420	0.65878|0.65878	.|.	.|.	ENSG00000161405|ENSG00000161405	ENST00000439167;ENST00000439016|ENST00000488188;ENST00000346872;ENST00000377945;ENST00000535189;ENST00000351680;ENST00000346243;ENST00000350532;ENST00000467757	.|T;T;T;T;T;T;T	.|0.05855	.|3.45;3.52;3.43;3.48;3.52;3.38;4.4	5.96|5.96	5.96|5.96	0.96718|0.96718	.|.	.|0.000000	.|0.64402	.|D	.|0.000004	T|T	0.10594|0.10594	0.0259|0.0259	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	0.999992|0.999992	.|P;B;P;D;P;P;P;P;P	.|0.59357	.|0.794;0.317;0.864;0.985;0.57;0.93;0.864;0.798;0.786	.|B;B;P;D;B;P;P;B;B	.|0.70716	.|0.31;0.228;0.523;0.97;0.341;0.798;0.523;0.384;0.323	T|T	0.22661|0.22661	-1.0210|-1.0210	5|10	.|0.02654	.|T	.|1	-18.7806|-18.7806	10.1431|10.1431	0.42747|0.42747	0.0:0.7917:0.1376:0.0707|0.0:0.7917:0.1376:0.0707	.|.	.|91;57;91;91;91;91;91;57;91	.|Q9UKT9-13;Q9UKT9-7;Q9UKT9-6;Q9UKT9-5;Q9UKT9-4;Q9UKT9-2;Q9UKT9-3;Q9UKT9-8;Q9UKT9	.|.;.;.;.;.;.;.;.;IKZF3_HUMAN	K|K	45|91;91;91;57;91;91;91;91	.|ENSP00000344544:R91K;ENSP00000367180:R91K;ENSP00000438972:R57K;ENSP00000345622:R91K;ENSP00000341977:R91K;ENSP00000344471:R91K;ENSP00000420463:R91K	.|ENSP00000341977:R91K	E|R	-|-	1|2	0|0	IKZF3|IKZF3	35202604|35202604	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	1.918000|1.918000	0.40006|0.40006	2.832000|2.832000	0.97577|0.97577	0.655000|0.655000	0.94253|0.94253	GAG|AGA		0.383	IKZF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257004.2	NM_012481		T	37949078	C	T	37949078	3	4	671	1	0	0	0	0	1	0	0	0	7618	913	32	2	1277	2	IKZF3	17	37949078	Missense_Mutation	SNP	C	TCGA-HE-7130-01A-11D-1961-08	20903047	37949078	43246132	114	36869											
HAP1	9001	hgsc.bcm.edu	37	17	39887800	39887800	+	Silent	SNP	G	G	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr17:39887800G>A	ENST00000310778.5	-	6	1023	c.1014C>T	c.(1012-1014)ctC>ctT	p.L338L	JUP_ENST00000540235.1_Intron|HAP1_ENST00000347901.4_Silent_p.L338L|HAP1_ENST00000393939.2_Silent_p.L338L|RN7SL399P_ENST00000471648.2_RNA|HAP1_ENST00000341193.5_Silent_p.L346L			P54257	HAP1_HUMAN	huntingtin-associated protein 1	338	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)			CAAGAGTGTCGAGTTGAGAGG	0.557																																																0													142	116	125					17																	39887800		2203	4300	6503	SO:0001819	synonymous_variant	9001			AF040723	CCDS11406.1, CCDS42338.1, CCDS42339.1	17q21.2-q21.3	2008-04-23	2008-04-23		ENSG00000173805	ENSG00000173805			4812	protein-coding gene	gene with protein product	"neuroan 1"	600947		HAP2		7477378, 9668110	Standard	NM_177977		Approved	HLP, hHLP1, HIP5	uc002hxn.1	P54257	OTTHUMG00000133498	ENST00000310778.5:c.1014C>T	chr17.hg19:g.39887800G>A			A8MQB5|O75358|Q59GK4|Q9H4G3|Q9HA98|Q9NY90	Silent	SNP	ENST00000310778.5	hg19																																																																																					0.557	HAP1-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000389619.1	NM_003949		A	39887800	G	A	39887800	2	1	671	1	0	0	0	0	0	0	0	1	6955	1045	37	1		1	HAP1	17	39887800	Silent	SNP	G	TCGA-HE-7130-01A-11D-1961-08	1938722	39887800	41307410	115	36870											
KIAA1267	284058	hgsc.bcm.edu	37	17	44248974	44248974	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr17:44248974delC	ENST00000262419.6	-	2	1006	c.536delG	c.(535-537)ggafs	p.G179fs	KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000574590.1_Frame_Shift_Del_p.G179fs|KANSL1_ENST00000575318.1_Frame_Shift_Del_p.G179fs|KANSL1_ENST00000572904.1_Frame_Shift_Del_p.G179fs|KANSL1_ENST00000576248.1_5'Flank|KANSL1_ENST00000432791.1_Frame_Shift_Del_p.G179fs	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	179					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)											AGCCCGTTTTCCCCCATTGAG	0.473																																																0													104	138	127					17																	44248974		2203	4300	6503	SO:0001589	frameshift_variant	284058			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.536delG	chr17.hg19:g.44248974delC	ENSP00000262419:p.Gly179fs		A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Frame_Shift_Del	DEL	ENST00000262419.6	hg19	CCDS11503.1																																																																																				0.473	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443		-	44248974	C	-	44248974	7	5	671	1	0	1	0	1	0	0	0	0	8221	855	30	0	2837	0	KIAA1267	17	44248974	Frame_Shift_Del	DEL	C	TCGA-HE-7130-01A-11D-1961-08	4361174	44248974	36946236	116	36871											
SKAP1	8631	hgsc.bcm.edu	37	17	46239837	46239837	+	Silent	SNP	C	C	G			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr17:46239837C>G	ENST00000336915.6	-	11	1041	c.972G>C	c.(970-972)ctG>ctC	p.L324L	SKAP1_ENST00000584924.1_Silent_p.L324L	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1	324	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				positive regulation of signal transduction (GO:0009967)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)	p.L324L(1)		large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						TTACCTTGCTCAGAATACGGA	0.433																																																1	Substitution - coding silent(1)	urinary_tract(1)											93	79	84					17																	46239837		2203	4300	6503	SO:0001819	synonymous_variant	8631			Y11215	CCDS32674.1	17q21.32	2013-01-10	2006-09-28	2006-09-28		ENSG00000141293		"Pleckstrin homology (PH) domain containing"	15605	protein-coding gene	gene with protein product		604969	"src family associated phosphoprotein 1"	SCAP1		9195899	Standard	NM_003726		Approved	SKAP55	uc002ini.1	Q86WV1		ENST00000336915.6:c.972G>C	chr17.hg19:g.46239837C>G			D3DTV1|O15268	Silent	SNP	ENST00000336915.6	hg19	CCDS32674.1																																																																																				0.433	SKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443432.1	NM_003726		G	46239837	C	G	46239837	2	3	671	1	0	0	0	0	0	0	0	1	14361	813	29	4		4	SKAP1	17	46239837	Silent	SNP	C	TCGA-HE-7130-01A-11D-1961-08	1990863	46239837	34955373	117	36872											
KIF19	124602	hgsc.bcm.edu	37	17	72338804	72338804	+	Missense_Mutation	SNP	C	C	G	rs368432623		TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr17:72338804C>G	ENST00000389916.4	+	4	405	c.267C>G	c.(265-267)atC>atG	p.I89M		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	89	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						AGAGCCTCATCGAGGGCGTCA	0.622																																																0													140	112	121					17																	72338804		2203	4300	6503	SO:0001583	missense	124602			AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"Kinesins"	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.267C>G	chr17.hg19:g.72338804C>G	ENSP00000374566:p.Ile89Met		A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Missense_Mutation	SNP	ENST00000389916.4	hg19	CCDS32718.2	.	.	.	.	.	.	.	.	.	.	C	18.38	3.611793	0.66558	.	.	ENSG00000196169	ENST00000551294;ENST00000389916	T;T	0.75821	-0.97;-0.97	5.5	-11.0	0.00169	Kinesin, motor domain (4);	.	.	.	.	T	0.77916	0.4202	M	0.79805	2.47	0.28548	N	0.91179	D;D;P;D	0.64830	0.99;0.981;0.93;0.994	D;D;P;D	0.67382	0.932;0.916;0.803;0.951	T	0.72581	-0.4250	9	0.87932	D	0	.	2.1205	0.03724	0.1636:0.208:0.163:0.4655	.	89;89;89;89	Q2TAC6;F8VW50;Q2TAC6-3;Q2TAC6-2	KIF19_HUMAN;.;.;.	M	89	ENSP00000449134:I89M;ENSP00000374566:I89M	ENSP00000374566:I89M	I	+	3	3	KIF19	69850399	0.000000	0.05858	0.008000	0.14137	0.981000	0.71138	-2.329000	0.01111	-1.540000	0.01730	0.456000	0.33151	ATC		0.622	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209		G	72338804	C	G	72338804	3	3	671	1	0	0	0	0	1	0	0	0	8284	874	31	4	281	4	KIF19	17	72338804	Missense_Mutation	SNP	C	TCGA-HE-7130-01A-11D-1961-08	26098967	72338804	8856406	118	36873											
AZI1	22994	hgsc.bcm.edu	37	17	79165116	79165116	+	Missense_Mutation	SNP	C	C	A	rs138682079		TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr17:79165116C>A	ENST00000269392.4	-	22	2898	c.2651G>T	c.(2650-2652)cGg>cTg	p.R884L	AZI1_ENST00000374782.3_Missense_Mutation_p.R845L|AZI1_ENST00000450824.2_Missense_Mutation_p.R881L|AZI1_ENST00000575907.1_Missense_Mutation_p.R848L	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN		884					cell differentiation (GO:0030154)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|regulation of centrosome duplication (GO:0010824)|spermatogenesis (GO:0007283)	BBSome (GO:0034464)|cell projection (GO:0042995)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CTCCTGTTCCCGGTTCAGCAG	0.697																																																0													68	66	67					17																	79165116		2203	4300	6503	SO:0001583	missense	22994																														ENST00000269392.4:c.2651G>T	chr17.hg19:g.79165116C>A	ENSP00000269392:p.Arg884Leu		A6NHI8|B2RN11|Q96F50	Missense_Mutation	SNP	ENST00000269392.4	hg19		.	.	.	.	.	.	.	.	.	.	C	35	5.440072	0.96168	.	.	ENSG00000141577	ENST00000450824;ENST00000374782;ENST00000269392	T;T;T	0.18338	2.22;2.26;2.23	4.22	4.22	0.49857	.	0.000000	0.64402	D	0.000001	T	0.40222	0.1108	M	0.64997	1.995	0.80722	D	1	D;D;D;D	0.89917	0.98;0.965;1.0;1.0	P;P;D;D	0.91635	0.814;0.814;0.999;0.999	T	0.36383	-0.9750	10	0.72032	D	0.01	-35.9331	16.7808	0.85563	0.0:1.0:0.0:0.0	.	881;884;845;881	B2RN10;Q9UPN4;Q9UPN4-3;Q9UPN4-2	.;AZI1_HUMAN;.;.	L	881;845;884	ENSP00000393583:R881L;ENSP00000363914:R845L;ENSP00000269392:R884L	ENSP00000269392:R884L	R	-	2	0	AZI1	76779711	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	3.686000	0.54685	2.190000	0.69967	0.491000	0.48974	CGG		0.697	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000256070.1			A	79165116	C	A	79165116	3	1	671	1	0	0	0	0	1	0	0	0	1240	652	23	4	620	4	AZI1	17	79165116	Missense_Mutation	SNP	C	TCGA-HE-7130-01A-11D-1961-08	6826312	79165116	2030094	119	36874											
TAF4B	6875	hgsc.bcm.edu	37	18	23866009	23866009	+	Missense_Mutation	SNP	C	C	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr18:23866009C>T	ENST00000269142.5	+	7	2134	c.1136C>T	c.(1135-1137)tCa>tTa	p.S379L	TAF4B_ENST00000400466.2_Missense_Mutation_p.S379L|TAF4B_ENST00000578121.1_Missense_Mutation_p.S379L	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	379					gene expression (GO:0010467)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|NF-kappaB binding (GO:0051059)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			TCTGAAAAGTCAATTATTGTT	0.463																																																0													100	97	98					18																	23866009		1925	4142	6067	SO:0001583	missense	6875			Y09321	CCDS42421.1	18q11.1	2008-08-01	2002-08-29	2001-12-07		ENSG00000141384			11538	protein-coding gene	gene with protein product	"TATA box binding protein (TBP)-associated factor 4B"	601689	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, C2, 105kD"	TAF2C2		8858156, 10849440	Standard	XM_005258339		Approved	TAFII105	uc002kvu.4	Q92750		ENST00000269142.5:c.1136C>T	chr18.hg19:g.23866009C>T	ENSP00000269142:p.Ser379Leu		Q29YA4|Q29YA5	Missense_Mutation	SNP	ENST00000269142.5	hg19	CCDS42421.1	.	.	.	.	.	.	.	.	.	.	c	2.722	-0.266371	0.05754	.	.	ENSG00000141384	ENST00000418698;ENST00000269142;ENST00000400466	T;T;T	0.22945	1.93;1.93;1.93	5.35	4.47	0.54385	.	1.607940	0.03022	N	0.150849	T	0.16685	0.0401	N	0.08118	0	0.09310	N	1	B;B	0.13594	0.001;0.008	B;B	0.14578	0.001;0.011	T	0.23797	-1.0178	10	0.20519	T	0.43	0.3248	9.9174	0.41444	0.1569:0.6917:0.1514:0.0	.	379;379	Q92750;A4PBF7	TAF4B_HUMAN;.	L	379	ENSP00000389365:S379L;ENSP00000269142:S379L;ENSP00000383314:S379L	ENSP00000269142:S379L	S	+	2	0	TAF4B	22120007	0.028000	0.19301	0.092000	0.20876	0.014000	0.08584	2.845000	0.48254	1.228000	0.43614	0.558000	0.71614	TCA		0.463	TAF4B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000446260.3	NM_005640		T	23866009	C	T	23866009	3	4	671	1	0	0	0	0	1	0	0	0	15532	838	29	2	1162	2	TAF4B	18	23866009	Missense_Mutation	SNP	C	TCGA-HE-7130-01A-11D-1961-08		23866009	54211239	120	36875											
MED16	10025	hgsc.bcm.edu	37	19	879943	879943	+	Missense_Mutation	SNP	G	G	C	rs201392672|rs76403059	byFrequency	TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr19:879943G>C	ENST00000589119.1	-	7	1346	c.1347C>G	c.(1345-1347)caC>caG	p.H449Q	MED16_ENST00000395808.3_Missense_Mutation_p.H449Q|MED16_ENST00000269814.4_Missense_Mutation_p.H449Q|MED16_ENST00000325464.1_Missense_Mutation_p.H449Q|MED16_ENST00000312090.6_Missense_Mutation_p.H449Q|MED16_ENST00000606828.1_Intron			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	449					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)		TCACCTTCCCGTGGCTGTCAA	0.672																																																0													13	11	12					19																	879943		2152	4247	6399	SO:0001583	missense	10025			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.1347C>G	chr19.hg19:g.879943G>C	ENSP00000464810:p.His449Gln		Q6PJT2|Q96AD4|Q96I35|Q9Y652	Missense_Mutation	SNP	ENST00000589119.1	hg19	CCDS12047.1	.	.	.	.	.	.	.	.	.	.	C	3.376	-0.127462	0.06753	.	.	ENSG00000175221	ENST00000325464;ENST00000312090;ENST00000395808;ENST00000269814;ENST00000534906;ENST00000537596;ENST00000540679;ENST00000538572;ENST00000424039	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	4.21	-7.89	0.01174	WD40 repeat-like-containing domain (1);	0.323237	0.32357	N	0.006220	T	0.21307	0.0513	L	0.37850	1.14	0.37741	D	0.925623	B;B;B;B;B	0.13145	0.006;0.007;0.002;0.001;0.001	B;B;B;B;B	0.14023	0.006;0.006;0.003;0.006;0.01	T	0.20009	-1.0288	10	0.15066	T	0.55	-14.2411	8.1092	0.30905	0.4704:0.1904:0.3392:0.0	.	449;449;449;449;449	Q9Y2X0-2;E7ETV0;Q9Y2X0-4;Q9Y2X0-3;Q9Y2X0	.;.;.;.;MED16_HUMAN	Q	449;449;449;449;449;305;210;208;449	ENSP00000325612:H449Q;ENSP00000308528:H449Q;ENSP00000379153:H449Q;ENSP00000269814:H449Q	ENSP00000269814:H449Q	H	-	3	2	MED16	830943	0.000000	0.05858	0.886000	0.34754	0.057000	0.15508	-3.404000	0.00482	-1.779000	0.01280	-2.326000	0.00250	CAC		0.672	MED16-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457902.3	NM_005481		C	879943	G	C	879943	3	2	671	1	0	0	0	0	1	0	0	0	9436	1136	40	4	1322	4	MED16	19	879943	Missense_Mutation	SNP	G	TCGA-HE-7130-01A-11D-1961-08		879943	58249040	121	36876											
NCCRP1	342897	hgsc.bcm.edu	37	19	39691364	39691364	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr19:39691364G>A	ENST00000339852.4	+	6	818	c.796G>A	c.(796-798)Gac>Aac	p.D266N		NM_001001414.1	NP_001001414.1	Q6ZVX7	FBX50_HUMAN	non-specific cytotoxic cell receptor protein 1 homolog (zebrafish)	266	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						ACGGGTGACCGACTCCTCCGT	0.617																																					Melanoma(107;1207 1556 14956 29427 52130)											0													152	148	149					19																	39691364		2203	4300	6503	SO:0001583	missense	342897			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.796G>A	chr19.hg19:g.39691364G>A	ENSP00000342137:p.Asp266Asn		Q6NVV5	Missense_Mutation	SNP	ENST00000339852.4	hg19	CCDS12529.1	.	.	.	.	.	.	.	.	.	.	G	9.500	1.103019	0.20632	.	.	ENSG00000188505	ENST00000339852	T	0.24350	1.86	4.96	4.96	0.65561	Galactose-binding domain-like (1);F-box associated (FBA) domain (2);	0.050217	0.85682	D	0.000000	T	0.22898	0.0553	N	0.11201	0.11	0.50313	D	0.999862	D	0.61697	0.99	P	0.57057	0.812	T	0.02728	-1.1118	10	0.07030	T	0.85	-30.2767	15.693	0.77469	0.0:0.0:1.0:0.0	.	266	Q6ZVX7	NCRP1_HUMAN	N	266	ENSP00000342137:D266N	ENSP00000342137:D266N	D	+	1	0	NCCRP1	44383204	1.000000	0.71417	0.955000	0.39395	0.144000	0.21451	4.099000	0.57755	2.319000	0.78375	0.484000	0.47621	GAC		0.617	NCCRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463829.1	NM_001001414		A	39691364	G	A	39691364	3	1	671	1	0	0	0	0	1	0	0	0	10215	1058	37	1	818	1	NCCRP1	19	39691364	Missense_Mutation	SNP	G	TCGA-HE-7130-01A-11D-1961-08	38811421	39691364	19437619	122	36877											
C19orf47	126526	hgsc.bcm.edu	37	19	40832303	40832303	+	Missense_Mutation	SNP	T	T	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr19:40832303T>C	ENST00000582783.1	-	7	653	c.641A>G	c.(640-642)aAc>aGc	p.N214S	C19orf47_ENST00000392035.2_Missense_Mutation_p.N147S	NM_001256440.1	NP_001243369.1	Q8N9M1	CS047_HUMAN	chromosome 19 open reading frame 47	214						nucleus (GO:0005634)				endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20			Lung(22;0.000636)			TTTGGGCATGTTGATGACGTA	0.662																																																0													132	102	112					19																	40832303		2203	4300	6503	SO:0001583	missense	126526			AL834131	CCDS58662.1	19q13.2	2012-07-20			ENSG00000160392	ENSG00000160392			26723	protein-coding gene	gene with protein product						12477932	Standard	NM_001256440		Approved	FLJ36888	uc002oni.5	Q8N9M1	OTTHUMG00000179028	ENST00000582783.1:c.641A>G	chr19.hg19:g.40832303T>C	ENSP00000463159:p.Asn214Ser		Q8IZ33|Q8N0V9	Missense_Mutation	SNP	ENST00000582783.1	hg19	CCDS58662.1	.	.	.	.	.	.	.	.	.	.	T	17.31	3.356248	0.61293	.	.	ENSG00000160392	ENST00000357884;ENST00000392035	.	.	.	5.54	4.44	0.53790	.	0.086607	0.85682	D	0.000000	T	0.51329	0.1668	L	0.59436	1.845	0.50632	D	0.999884	B	0.32753	0.383	B	0.33521	0.165	T	0.46803	-0.9165	9	0.14656	T	0.56	1.1855	13.0399	0.58893	0.0:0.0:0.1429:0.8571	.	214	Q8N9M1	CS047_HUMAN	S	214;147	.	ENSP00000350556:N214S	N	-	2	0	C19orf47	45524143	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.596000	0.54024	2.115000	0.64714	0.379000	0.24179	AAC		0.662	C19orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444488.1	NM_178830		C	40832303	T	C	40832303	3	2	671	1	0	0	0	0	1	0	0	0	1932	1725	60	3	639	3	C19orf47	19	40832303	Missense_Mutation	SNP	T	TCGA-HE-7130-01A-11D-1961-08	1140939	40832303	18296680	123	36878											
KLK10	5655	hgsc.bcm.edu	37	19	51518766	51518766	+	Silent	SNP	G	G	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr19:51518766G>T	ENST00000309958.3	-	5	803	c.585C>A	c.(583-585)atC>atA	p.I195I	KLK10_ENST00000391805.1_Silent_p.I195I|KLK10_ENST00000358789.3_Silent_p.I195I|CTC-518B2.12_ENST00000596286.1_RNA	NM_002776.4	NP_002767.2	O43240	KLK10_HUMAN	kallikrein-related peptidase 10	195	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cell cycle (GO:0007049)	extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		TAGGGCTCAGGATAGTGATGC	0.567																																																0													273	256	262					19																	51518766		2203	4300	6503	SO:0001819	synonymous_variant	5655			AF024605	CCDS12817.1	19q13	2011-03-07	2006-10-27			ENSG00000129451		"Kallikreins"	6358	protein-coding gene	gene with protein product		602673	"kallikrein 10"	PRSSL1		8764136, 9533035, 16800724, 16800723, 10675891	Standard	NM_145888		Approved	NES1	uc002pva.3	O43240		ENST00000309958.3:c.585C>A	chr19.hg19:g.51518766G>T			A6NC12|Q53YL3|Q99920|Q9GZW9	Silent	SNP	ENST00000309958.3	hg19	CCDS12817.1																																																																																				0.567	KLK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464337.2	NM_002776		T	51518766	G	T	51518766	2	4	671	1	0	0	0	0	0	0	0	1	8400	1164	41	4		4	KLK10	19	51518766	Silent	SNP	G	TCGA-HE-7130-01A-11D-1961-08	10686463	51518766	7610217	124	36879											
ZNF347	84671	hgsc.bcm.edu	37	19	53643875	53643875	+	Missense_Mutation	SNP	G	G	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr19:53643875G>T	ENST00000334197.7	-	5	2274	c.2206C>A	c.(2206-2208)Cct>Act	p.P736T	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.P737T|ZNF347_ENST00000452676.2_Missense_Mutation_p.P737T	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	736					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)		CATTTGTAAGGTTTTTTTCCA	0.423																																					Melanoma(64;205 1597 17324 45721)											0													167	155	159					19																	53643875		2203	4300	6503	SO:0001583	missense	84671			AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"Zinc fingers, C2H2-type", "-"	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.2206C>A	chr19.hg19:g.53643875G>T	ENSP00000334146:p.Pro736Thr		B3KU77|B9EG59|G5E9N4|Q8TCN1	Missense_Mutation	SNP	ENST00000334197.7	hg19	CCDS33097.1	.	.	.	.	.	.	.	.	.	.	G	14.27	2.486058	0.44147	.	.	ENSG00000197937	ENST00000334197;ENST00000452676	T;T	0.16897	2.31;2.31	2.64	-0.0406	0.13871	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.36054	0.0953	M	0.76574	2.34	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.981	T	0.11036	-1.0604	9	0.87932	D	0	.	6.5531	0.22446	0.3119:0.0:0.6881:0.0	.	737;736	G5E9N4;Q96SE7	.;ZN347_HUMAN	T	736;737	ENSP00000334146:P736T;ENSP00000405218:P737T	ENSP00000334146:P736T	P	-	1	0	ZNF347	58335687	0.348000	0.24861	0.000000	0.03702	0.251000	0.25915	1.732000	0.38146	-0.074000	0.12820	0.655000	0.94253	CCT		0.423	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		T	53643875	G	T	53643875	3	4	671	1	0	0	0	0	1	0	0	0	17866	1261	44	4	317	4	ZNF347	19	53643875	Missense_Mutation	SNP	G	TCGA-HE-7130-01A-11D-1961-08	2125109	53643875	5485108	125	36880											
GALP	85569	hgsc.bcm.edu	37	19	56694579	56694579	+	Missense_Mutation	SNP	G	G	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr19:56694579G>C	ENST00000357330.2	+	5	375	c.293G>C	c.(292-294)gGa>gCa	p.G98A	GALP_ENST00000440823.1_3'UTR	NM_033106.3	NP_149097.1	Q9UBC7	GALP_HUMAN	galanin-like peptide	98					behavioral response to starvation (GO:0042595)|defense response to bacterium (GO:0042742)|neuropeptide signaling pathway (GO:0007218)|regulation of appetite (GO:0032098)|response to insulin (GO:0032868)	extracellular region (GO:0005576)				lung(4)	4		Colorectal(82;0.000147)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0507)		CCAGAGATTGGAGGTAAAGCC	0.507																																																0													94	88	90					19																	56694579		2203	4300	6503	SO:0001583	missense	85569			AF188493	CCDS12940.1, CCDS46202.1	19q13.42	2013-02-26	2007-08-24			ENSG00000197487		"Endogenous ligands"	24840	protein-coding gene	gene with protein product		611178				10601261	Standard	NM_033106		Approved		uc002qmo.1	Q9UBC7		ENST00000357330.2:c.293G>C	chr19.hg19:g.56694579G>C	ENSP00000349884:p.Gly98Ala		A1KXL3	Missense_Mutation	SNP	ENST00000357330.2	hg19	CCDS12940.1	.	.	.	.	.	.	.	.	.	.	G	11.60	1.687848	0.29962	.	.	ENSG00000197487	ENST00000357330	T	0.60797	0.16	2.07	0.986	0.19784	.	.	.	.	.	T	0.35508	0.0934	L	0.32530	0.975	0.80722	D	1	B	0.33266	0.404	B	0.18561	0.022	T	0.07597	-1.0764	9	0.25106	T	0.35	-6.1554	6.4753	0.22033	0.0:0.3481:0.6519:0.0	.	98	Q9UBC7	GALP_HUMAN	A	98	ENSP00000349884:G98A	ENSP00000349884:G98A	G	+	2	0	GALP	61386391	0.945000	0.32115	0.166000	0.22797	0.024000	0.10985	0.450000	0.21762	0.410000	0.25675	0.591000	0.81541	GGA		0.507	GALP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457832.1	NM_033106		C	56694579	G	C	56694579	3	2	671	1	0	0	0	0	1	0	0	0	6228	1174	41	4	307	4	GALP	19	56694579	Missense_Mutation	SNP	G	TCGA-HE-7130-01A-11D-1961-08	3050704	56694579	2434404	126	36881											
USP29	57663	hgsc.bcm.edu	37	19	57641187	57641187	+	Missense_Mutation	SNP	G	G	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr19:57641187G>C	ENST00000254181.4	+	4	1598	c.1144G>C	c.(1144-1146)Gac>Cac	p.D382H	USP29_ENST00000598197.1_Missense_Mutation_p.D382H	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	382	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)		TCAGTGTTTAGACCAGCTGAA	0.368																																																0													58	58	58					19																	57641187		2203	4298	6501	SO:0001583	missense	57663				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.1144G>C	chr19.hg19:g.57641187G>C	ENSP00000254181:p.Asp382His			Missense_Mutation	SNP	ENST00000254181.4	hg19	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.588551	0.46110	.	.	ENSG00000131864	ENST00000254181	T	0.78595	-1.19	2.44	2.44	0.29823	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.617223	0.13416	U	0.389500	D	0.87688	0.6240	M	0.85630	2.765	0.29467	N	0.857365	D	0.89917	1.0	D	0.76575	0.988	T	0.80843	-0.1201	10	0.87932	D	0	-5.0112	11.0121	0.47669	0.0:0.0:1.0:0.0	.	382	Q9HBJ7	UBP29_HUMAN	H	382	ENSP00000254181:D382H	ENSP00000254181:D382H	D	+	1	0	USP29	62332999	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.330000	0.52068	1.646000	0.50622	0.591000	0.81541	GAC		0.368	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			C	57641187	G	C	57641187	3	2	671	1	0	0	0	0	1	0	0	0	17064	942	33	4	1146	4	USP29	19	57641187	Missense_Mutation	SNP	G	TCGA-HE-7130-01A-11D-1961-08	946608	57641187	1487796	127	36882											
CHD6	84181	hgsc.bcm.edu	37	20	40033767	40033767	+	Silent	SNP	G	G	A	rs559201396		TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr20:40033767G>A	ENST00000373233.3	-	37	7791	c.7614C>T	c.(7612-7614)ctC>ctT	p.L2538L	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2538					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)				TGGGTGGACTGAGGAGTCCCC	0.557																																																0													90	83	85					20																	40033767		2203	4300	6503	SO:0001819	synonymous_variant	84181			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.7614C>T	chr20.hg19:g.40033767G>A			Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Silent	SNP	ENST00000373233.3	hg19	CCDS13317.1																																																																																				0.557	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			A	40033767	G	A	40033767	2	1	671	1	0	0	0	0	0	0	0	1	3331	1277	45	2		2	CHD6	20	40033767	Silent	SNP	G	TCGA-HE-7130-01A-11D-1961-08		40033767	22991753	128	36883											
PTPN1	5770	hgsc.bcm.edu	37	20	49195155	49195155	+	Missense_Mutation	SNP	T	T	G			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr20:49195155T>G	ENST00000371621.3	+	6	865	c.691T>G	c.(691-693)Tgc>Ggc	p.C231G	PTPN1_ENST00000541713.1_Missense_Mutation_p.C158G|RP4-530I15.9_ENST00000431019.1_RNA	NM_001278618.1|NM_002827.2	NP_001265547.1|NP_002818.1	P18031	PTN1_HUMAN	protein tyrosine phosphatase, non-receptor type 1	231	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				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)	GGCTGATACCTGCCTCTTGCT	0.597																																																0													47	48	48					20																	49195155		2203	4300	6503	SO:0001583	missense	5770				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.691T>G	chr20.hg19:g.49195155T>G	ENSP00000360683:p.Cys231Gly		Q5TGD8|Q9BQV9|Q9NQQ4	Missense_Mutation	SNP	ENST00000371621.3	hg19	CCDS13430.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.457273	0.84317	.	.	ENSG00000196396	ENST00000371621;ENST00000541713	D;D	0.83250	-1.7;-1.7	5.24	5.24	0.73138	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.91408	0.7289	M	0.84082	2.675	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.92757	0.6221	10	0.87932	D	0	.	15.139	0.72595	0.0:0.0:0.0:1.0	.	231	P18031	PTN1_HUMAN	G	231;158	ENSP00000360683:C231G;ENSP00000437732:C158G	ENSP00000360683:C231G	C	+	1	0	PTPN1	48628562	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	7.977000	0.88081	1.979000	0.57680	0.379000	0.24179	TGC		0.597	PTPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079694.2			G	49195155	T	G	49195155	3	3	671	1	0	0	0	0	1	0	0	0	12785	1580	55	5	713	5	PTPN1	20	49195155	Missense_Mutation	SNP	T	TCGA-HE-7130-01A-11D-1961-08	9161388	49195155	13830365	129	36884											
SERPIND1	3053	hgsc.bcm.edu	37	22	21140297	21140297	+	Missense_Mutation	SNP	G	G	A	rs368023291		TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr22:21140297G>A	ENST00000215727.5	+	4	1452	c.1169G>A	c.(1168-1170)cGa>cAa	p.R390Q	PI4KA_ENST00000255882.6_Intron|SERPIND1_ENST00000406799.1_Missense_Mutation_p.R390Q|PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000466162.1_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	390					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)	TCTAGAACTCGAGAAGTGCTT	0.423																																																0								G	GLN/ARG,	0,4406		0,0,2203	130	134	132		1169,	5.3	1	22		132	1,8599	1.2+/-3.3	0,1,4299	no	missense,intron	SERPIND1,PI4KA	NM_000185.3,NM_058004.3	43,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,	390/500,	21140297	1,13005	2203	4300	6503	SO:0001583	missense	3053			M12849	CCDS13783.1	22q11.21	2014-02-18	2005-08-18		ENSG00000099937	ENSG00000099937		"Serine (or cysteine) peptidase inhibitors"	4838	protein-coding gene	gene with protein product	"heparin cofactor II"	142360	"serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1"	HCF2		1671335, 24172014	Standard	XM_005261597		Approved	HC-II, HLS2, HC2, D22S673	uc002ztb.1	P05546	OTTHUMG00000150755	ENST00000215727.5:c.1169G>A	chr22.hg19:g.21140297G>A	ENSP00000215727:p.Arg390Gln		B2RAI1|D3DX34|Q6IBZ5	Missense_Mutation	SNP	ENST00000215727.5	hg19	CCDS13783.1	.	.	.	.	.	.	.	.	.	.	G	32	5.164332	0.94727	0.0	1.16E-4	ENSG00000099937	ENST00000215727;ENST00000406799	D;D	0.87650	-2.28;-2.28	5.28	5.28	0.74379	Serpin domain (3);	0.000000	0.85682	D	0.000000	D	0.93032	0.7782	M	0.73962	2.25	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.66979	0.948;0.948	D	0.92954	0.6383	10	0.56958	D	0.05	.	19.0957	0.93249	0.0:0.0:1.0:0.0	.	390;390	Q8IVC0;P05546	.;HEP2_HUMAN	Q	390	ENSP00000215727:R390Q;ENSP00000384050:R390Q	ENSP00000215727:R390Q	R	+	2	0	SERPIND1	19470297	1.000000	0.71417	0.988000	0.46212	0.855000	0.48748	8.835000	0.92100	2.755000	0.94549	0.655000	0.94253	CGA		0.423	SERPIND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319961.1	NM_000185		A	21140297	G	A	21140297	3	1	671	1	0	0	0	0	1	0	0	0	14116	1058	37	1	1179	1	SERPIND1	22	21140297	Missense_Mutation	SNP	G	TCGA-HE-7130-01A-11D-1961-08		21140297	30164269	130	36885											
SERPIND1	3053	hgsc.bcm.edu	37	22	21140328	21140328	+	Silent	SNP	G	G	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr22:21140328G>A	ENST00000215727.5	+	4	1483	c.1200G>A	c.(1198-1200)gaG>gaA	p.E400E	PI4KA_ENST00000255882.6_Intron|SERPIND1_ENST00000406799.1_Silent_p.E400E|PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000466162.1_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	400					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)	TCAAGCTGGAGAAGAACTACA	0.448																																																0													171	164	166					22																	21140328		2203	4300	6503	SO:0001819	synonymous_variant	3053			M12849	CCDS13783.1	22q11.21	2014-02-18	2005-08-18		ENSG00000099937	ENSG00000099937		"Serine (or cysteine) peptidase inhibitors"	4838	protein-coding gene	gene with protein product	"heparin cofactor II"	142360	"serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1"	HCF2		1671335, 24172014	Standard	XM_005261597		Approved	HC-II, HLS2, HC2, D22S673	uc002ztb.1	P05546	OTTHUMG00000150755	ENST00000215727.5:c.1200G>A	chr22.hg19:g.21140328G>A			B2RAI1|D3DX34|Q6IBZ5	Silent	SNP	ENST00000215727.5	hg19	CCDS13783.1																																																																																				0.448	SERPIND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319961.1	NM_000185		A	21140328	G	A	21140328	2	1	671	1	0	0	0	0	0	0	0	1	14116	933	33	2		2	SERPIND1	22	21140328	Silent	SNP	G	TCGA-HE-7130-01A-11D-1961-08	31	21140328	30164238	131	36886											
MCM5	4174	hgsc.bcm.edu	37	22	35806777	35806777	+	Missense_Mutation	SNP	A	A	G			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr22:35806777A>G	ENST00000216122.4	+	7	947	c.793A>G	c.(793-795)Atc>Gtc	p.I265V	MCM5_ENST00000382011.5_Missense_Mutation_p.I222V	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	265					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						CAGGGTTACCATCATGGGCAT	0.557																																																0													166	144	151					22																	35806777		2203	4300	6503	SO:0001583	missense	4174				CCDS13915.1	22q13.1-q13.2	2007-04-04	2007-04-04		ENSG00000100297	ENSG00000100297			6948	protein-coding gene	gene with protein product		602696	"minichromosome maintenance deficient (S. cerevisiae) 5 (cell division cycle 46)", "MCM5 minichromosome maintenance deficient 5, cell division cycle 46 (S. cerevisiae)"	CDC46		8751386, 10591208	Standard	NM_006739		Approved		uc003anu.4	P33992	OTTHUMG00000150961	ENST00000216122.4:c.793A>G	chr22.hg19:g.35806777A>G	ENSP00000216122:p.Ile265Val		O60785|Q14578|Q9BTJ4|Q9BWL8	Missense_Mutation	SNP	ENST00000216122.4	hg19	CCDS13915.1	.	.	.	.	.	.	.	.	.	.	A	7.703	0.693600	0.15039	.	.	ENSG00000100297	ENST00000216122;ENST00000382011;ENST00000444582;ENST00000444778	T;T;T	0.03413	3.94;3.94;3.94	5.32	5.32	0.75619	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.046124	0.85682	D	0.000000	T	0.02727	0.0082	N	0.11789	0.175	0.58432	D	0.999999	B;B;B;B	0.11235	0.004;0.004;0.004;0.004	B;B;B;B	0.17979	0.009;0.009;0.02;0.009	T	0.48115	-0.9063	10	0.08837	T	0.75	-32.0355	15.5601	0.76237	1.0:0.0:0.0:0.0	.	265;265;222;265	B1AHB0;Q53FG5;B1AHB1;P33992	.;.;.;MCM5_HUMAN	V	265;222;174;122	ENSP00000216122:I265V;ENSP00000371441:I222V;ENSP00000408705:I122V	ENSP00000216122:I265V	I	+	1	0	MCM5	34136777	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.001000	0.57046	2.142000	0.66516	0.459000	0.35465	ATC		0.557	MCM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320661.3			G	35806777	A	G	35806777	3	3	671	1	0	0	0	0	1	0	0	0	9392	217	8	3	815	3	MCM5	22	35806777	Missense_Mutation	SNP	A	TCGA-HE-7130-01A-11D-1961-08	14666449	35806777	15497789	132	36887											
MYH9	4627	hgsc.bcm.edu	37	22	36696256	36696256	+	Missense_Mutation	SNP	C	C	G			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr22:36696256C>G	ENST00000216181.5	-	23	3123	c.2893G>C	c.(2893-2895)Gag>Cag	p.E965Q		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	965					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						GTCACCTTCTCCAGCTGCAGC	0.632			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated																														Dom	yes		22	22q13.1	4627	"myosin, heavy polypeptide 9, non-muscle"	yes	L	0													76	71	73					22																	36696256		2203	4300	6503	SO:0001583	missense	4627	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"Myosins / Myosin superfamily : Class II"	7579	protein-coding gene	gene with protein product	"nonmuscle myosin heavy chain II-A"	160775	"myosin, heavy polypeptide 9, non-muscle"	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.2893G>C	chr22.hg19:g.36696256C>G	ENSP00000216181:p.Glu965Gln		A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	hg19	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	C	35	5.458931	0.96240	.	.	ENSG00000100345	ENST00000337818;ENST00000216181	D	0.92911	-3.13	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	D	0.97517	0.9187	H	0.96889	3.9	0.80722	D	1	D	0.62365	0.991	D	0.65773	0.938	D	0.98548	1.0635	10	0.87932	D	0	.	19.3857	0.94555	0.0:1.0:0.0:0.0	.	965	P35579	MYH9_HUMAN	Q	829;965	ENSP00000216181:E965Q	ENSP00000216181:E965Q	E	-	1	0	MYH9	35026202	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.781000	0.85668	2.665000	0.90641	0.655000	0.94253	GAG		0.632	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		G	36696256	C	G	36696256	3	3	671	1	0	0	0	0	1	0	0	0	10044	864	30	4	3065	4	MYH9	22	36696256	Missense_Mutation	SNP	C	TCGA-HE-7130-01A-11D-1961-08	889479	36696256	14608310	133	36888											
MAOB	4129	hgsc.bcm.edu	37	X	43655117	43655117	+	Missense_Mutation	SNP	C	C	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chrX:43655117C>T	ENST00000378069.4	-	7	784	c.637G>A	c.(637-639)Gga>Aga	p.G213R	MAOB_ENST00000487544.1_5'Flank|MAOB_ENST00000538942.1_Missense_Mutation_p.G197R|MAOB_ENST00000536181.1_Missense_Mutation_p.G197R	NM_000898.4	NP_000889.3	P27338	AOFB_HUMAN	monoamine oxidase B	213					negative regulation of serotonin secretion (GO:0014063)|positive regulation of dopamine metabolic process (GO:0045964)|response to aluminum ion (GO:0010044)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|primary amine oxidase activity (GO:0008131)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Amphetamine(DB00182)|Dopamine(DB00988)|Ephedra(DB01363)|Flavin adenine dinucleotide(DB03147)|Furazolidone(DB00614)|Isocarboxazid(DB01247)|Linezolid(DB00601)|Methamphetamine(DB01577)|Moclobemide(DB01171)|Nandrolone decanoate(DB08804)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Procaine(DB00721)|Rasagiline(DB01367)|Selegiline(DB01037)|Sertraline(DB01104)|Tranylcypromine(DB00752)|Zonisamide(DB00909)	TGACCAGATCCGCCCACAAAT	0.458																																																0													82	69	74					X																	43655117		2203	4300	6503	SO:0001583	missense	4129				CCDS14261.1	Xp11.4-p11.3	2008-02-05			ENSG00000069535	ENSG00000069535	1.4.3.4		6834	protein-coding gene	gene with protein product		309860					Standard	NM_000898		Approved		uc004dfz.4	P27338	OTTHUMG00000021388	ENST00000378069.4:c.637G>A	chrX.hg19:g.43655117C>T	ENSP00000367309:p.Gly213Arg		B2R6R3|B7Z5H3|D3DWC3|Q7Z6S2	Missense_Mutation	SNP	ENST00000378069.4	hg19	CCDS14261.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.778441	0.90195	.	.	ENSG00000069535	ENST00000378069;ENST00000536181;ENST00000538942	T;T;T	0.25085	1.82;1.82;1.82	5.42	5.42	0.78866	Amine oxidase (1);	0.000000	0.85682	D	0.000000	T	0.67306	0.2879	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	T	0.80054	-0.1543	10	0.87932	D	0	-15.4168	18.5254	0.90969	0.0:1.0:0.0:0.0	.	197;213	B7Z5H3;P27338	.;AOFB_HUMAN	R	213;197;197	ENSP00000367309:G213R;ENSP00000441613:G197R;ENSP00000442240:G197R	ENSP00000367309:G213R	G	-	1	0	MAOB	43540061	1.000000	0.71417	0.991000	0.47740	0.950000	0.60333	7.104000	0.77024	2.404000	0.81709	0.600000	0.82982	GGA		0.458	MAOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056303.1	NM_000898		T	43655117	C	T	43655117	3	4	671	1	0	0	0	0	1	0	0	0	9228	661	23	1	961	1	MAOB	23	43655117	Missense_Mutation	SNP	C	TCGA-HE-7130-01A-11D-1961-08		43655117	111615443	134	36889											
KDM6A	7403	hgsc.bcm.edu	37	X	44870205	44870205	+	Splice_Site	SNP	G	G	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chrX:44870205G>C	ENST00000377967.4	+	5	425		c.e5-1		KDM6A_ENST00000536777.1_Splice_Site|KDM6A_ENST00000382899.4_Splice_Site|KDM6A_ENST00000543216.1_Splice_Site	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A						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(10)|p.0?(6)|p.?(1)		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						TTCCTTTACAGAATGCTGCCT	0.299			"D, N, F, S"		"renal, oesophageal SCC, MM"																																Colon(129;1273 1667 15230 27352 52914)		Rec	yes		X	Xp11.2	7403	"lysine (K)-specific demethylase 6A, UTX"		"E, L"	17	No detectable mRNA/protein(10)|Whole gene deletion(6)|Unknown(1)	haematopoietic_and_lymphoid_tissue(11)|oesophagus(2)|breast(2)|pancreas(2)											121	102	108					X																	44870205		2203	4299	6502	SO:0001630	splice_region_variant	7403			AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"Chromatin-modifying enzymes / K-demethylases", "Tetratricopeptide (TTC) repeat domain containing"	12637	protein-coding gene	gene with protein product		300128	"ubiquitously transcribed tetratricopeptide repeat, X chromosome"	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.385-1G>C	chrX.hg19:g.44870205G>C			Q52LL9|Q5JVQ7	Splice_Site	SNP	ENST00000377967.4	hg19	CCDS14265.1	.	.	.	.	.	.	.	.	.	.	G	12.63	1.994801	0.35226	.	.	ENSG00000147050	ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216;ENST00000542299	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2912	0.90131	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KDM6A	44755149	1.000000	0.71417	0.995000	0.50966	0.078000	0.17371	9.225000	0.95219	2.258000	0.74832	0.506000	0.49869	.		0.299	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140	Intron	C	44870205	G	C	44870205	5	2	671	1	0	0	0	0	0	0	1	0	8139	956	33	4	402	4	KDM6A	23	44870205	Splice_Site	SNP	G	TCGA-HE-7130-01A-11D-1961-08	1215088	44870205	110400355	135	36890											
KDM6A	7403	hgsc.bcm.edu	37	X	44969446	44969447	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	AC	AC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chrX:44969446_44969447delAC	ENST00000377967.4	+	28	4169_4170	c.4128_4129delAC	c.(4126-4131)gaacagfs	p.Q1377fs	KDM6A_ENST00000536777.1_Frame_Shift_Del_p.Q1332fs|KDM6A_ENST00000479423.1_3'UTR|KDM6A_ENST00000382899.4_Frame_Shift_Del_p.Q1384fs|KDM6A_ENST00000543216.1_Frame_Shift_Del_p.Q1298fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1377					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)|p.Q1377*(1)		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						TGGTGCTAGAACAGTACAAAAT	0.386			"D, N, F, S"		"renal, oesophageal SCC, MM"																																Colon(129;1273 1667 15230 27352 52914)		Rec	yes		X	Xp11.2	7403	"lysine (K)-specific demethylase 6A, UTX"		"E, L"	7	Whole gene deletion(6)|Substitution - Nonsense(1)	oesophagus(2)|breast(2)|pancreas(2)|urinary_tract(1)																																								SO:0001589	frameshift_variant	7403			AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"Chromatin-modifying enzymes / K-demethylases", "Tetratricopeptide (TTC) repeat domain containing"	12637	protein-coding gene	gene with protein product		300128	"ubiquitously transcribed tetratricopeptide repeat, X chromosome"	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.4128_4129delAC	chrX.hg19:g.44969446_44969447delAC	ENSP00000367203:p.Gln1377fs		Q52LL9|Q5JVQ7	Frame_Shift_Del	DEL	ENST00000377967.4	hg19	CCDS14265.1																																																																																				0.386	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140		-	44969447	AC	-	44969446	7	5	671	1	0	1	0	1	0	0	0	0	8139	40	2	0	4238	0	KDM6A	23	44969446	Frame_Shift_Del	DEL	AC	TCGA-HE-7130-01A-11D-1961-08	99241	44969446	110301114	136	36891											
ERCC6L	54821	hgsc.bcm.edu	37	X	71426809	71426809	+	Nonsense_Mutation	SNP	G	G	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chrX:71426809G>C	ENST00000334463.3	-	2	1943	c.1808C>G	c.(1807-1809)tCa>tGa	p.S603*	PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000373657.1_Nonsense_Mutation_p.S480*	NM_017669.2	NP_060139.2	Q2NKX8	ERC6L_HUMAN	excision repair cross-complementation group 6-like	603	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					TCTTATTAATGAGTCCTTGAA	0.348																																																0													101	99	99					X																	71426809		2203	4300	6503	SO:0001587	stop_gained	54821			AK000112	CCDS35329.1	Xq13.1	2014-03-07	2014-03-07		ENSG00000186871	ENSG00000186871			20794	protein-coding gene	gene with protein product	"PLK1-interacting checkpoint helicase"	300687	"excision repair cross-complementing rodent repair deficiency, complementation group 6-like"			17218258	Standard	NM_017669		Approved	FLJ20105, PICH, RAD26L	uc004eaq.1	Q2NKX8	OTTHUMG00000021810	ENST00000334463.3:c.1808C>G	chrX.hg19:g.71426809G>C	ENSP00000334675:p.Ser603*		Q8NCI1|Q96H93|Q9NXQ8	Nonsense_Mutation	SNP	ENST00000334463.3	hg19	CCDS35329.1	.	.	.	.	.	.	.	.	.	.	G	42	9.316536	0.99135	.	.	ENSG00000186871	ENST00000373657;ENST00000334463	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-9.103	15.597	0.76590	0.0:0.0:1.0:0.0	.	.	.	.	X	480;603	.	ENSP00000334675:S603X	S	-	2	0	ERCC6L	71343534	1.000000	0.71417	0.937000	0.37676	0.994000	0.84299	7.739000	0.84976	2.279000	0.76181	0.594000	0.82650	TCA		0.348	ERCC6L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057174.2	NM_017669		C	71426809	G	C	71426809	4	2	671	1	0	0	0	0	0	1	0	0	5220	1294	45	4	1948	4	ERCC6L	23	71426809	Nonsense_Mutation	SNP	G	TCGA-HE-7130-01A-11D-1961-08	26457363	71426809	83843751	137	36892											
PHKA1	5255	hgsc.bcm.edu	37	X	71886083	71886083	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chrX:71886083G>A	ENST00000373542.4	-	8	941	c.782C>T	c.(781-783)tCa>tTa	p.S261L	PHKA1_ENST00000339490.3_Missense_Mutation_p.S261L|PHKA1_ENST00000373539.3_Missense_Mutation_p.S261L|PHKA1_ENST00000541944.1_Missense_Mutation_p.S261L|PHKA1_ENST00000373545.3_Missense_Mutation_p.S261L	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	261					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					GGAAACCACTGAGAGTAGACT	0.423																																																0													109	91	97					X																	71886083		2203	4300	6503	SO:0001583	missense	5255				CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.782C>T	chrX.hg19:g.71886083G>A	ENSP00000362643:p.Ser261Leu		B7ZL05|B7ZL07|Q2M3D7	Missense_Mutation	SNP	ENST00000373542.4	hg19	CCDS14421.1	.	.	.	.	.	.	.	.	.	.	G	35	5.514712	0.96402	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000541944;ENST00000339490;ENST00000373539	D;D;D;D;D	0.93811	-3.29;-3.29;-3.29;-3.29;-3.29	5.78	5.78	0.91487	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);Glycoside hydrolase 15-related (1);	0.059029	0.64402	D	0.000002	D	0.96349	0.8809	M	0.80746	2.51	0.58432	D	0.999999	P;D;D	0.67145	0.916;0.989;0.996	P;P;D	0.65773	0.515;0.897;0.938	D	0.95897	0.8912	10	0.42905	T	0.14	-12.5655	16.1536	0.81640	0.0:0.0:1.0:0.0	.	261;261;261	B7ZL07;P46020-2;P46020	.;.;KPB1_HUMAN	L	261	ENSP00000362646:S261L;ENSP00000362643:S261L;ENSP00000441251:S261L;ENSP00000342469:S261L;ENSP00000362640:S261L	ENSP00000342469:S261L	S	-	2	0	PHKA1	71802808	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.296000	0.96104	2.417000	0.82017	0.600000	0.82982	TCA		0.423	PHKA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058896.1			A	71886083	G	A	71886083	3	1	671	1	0	0	0	0	1	0	0	0	11845	1294	45	2	2989	2	PHKA1	23	71886083	Missense_Mutation	SNP	G	TCGA-HE-7130-01A-11D-1961-08	459274	71886083	83384477	138	36893											
STAG2	10735	hgsc.bcm.edu	37	X	123202456	123202456	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chrX:123202456C>T	ENST00000371160.1	+	24	2598	c.2308C>T	c.(2308-2310)Cag>Tag	p.Q770*	STAG2_ENST00000371145.3_Nonsense_Mutation_p.Q770*|STAG2_ENST00000354548.5_Nonsense_Mutation_p.Q701*|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Nonsense_Mutation_p.Q770*|STAG2_ENST00000371157.3_Nonsense_Mutation_p.Q770*|STAG2_ENST00000371144.3_Nonsense_Mutation_p.Q770*	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	770					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						AGTATTTTGTCAGATATGTCA	0.284																																																0													75	70	72					X																	123202456		2203	4285	6488	SO:0001587	stop_gained	10735			Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.2308C>T	chrX.hg19:g.123202456C>T	ENSP00000360202:p.Gln770*		B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Nonsense_Mutation	SNP	ENST00000371160.1	hg19	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	C	41	8.670079	0.98908	.	.	ENSG00000101972	ENST00000218089;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	.	.	.	5.19	5.19	0.71726	.	0.185733	0.49305	D	0.000159	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	-2.5759	18.1116	0.89538	0.0:1.0:0.0:0.0	.	.	.	.	X	770;701;770;770;770;770	.	ENSP00000218089:Q770X	Q	+	1	0	STAG2	123030137	1.000000	0.71417	1.000000	0.80357	0.671000	0.39405	3.356000	0.52269	2.301000	0.77427	0.534000	0.68092	CAG		0.284	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		T	123202456	C	T	123202456	4	4	671	1	0	0	0	0	0	1	0	0	15248	827	29	2	2394	2	STAG2	23	123202456	Nonsense_Mutation	SNP	C	TCGA-HE-7130-01A-11D-1961-08	51316373	123202456	32068104	139	36894											
ODZ1	10178	hgsc.bcm.edu	37	X	123680889	123680889	+	Missense_Mutation	SNP	T	T	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chrX:123680889T>A	ENST00000371130.3	-	15	2549	c.2486A>T	c.(2485-2487)tAt>tTt	p.Y829F	TENM1_ENST00000422452.2_Missense_Mutation_p.Y829F	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	829					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)										AGGACTTATATAACAGTTGCT	0.403																																																0													119	102	108					X																	123680889		2203	4300	6503	SO:0001583	missense	10178			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.2486A>T	chrX.hg19:g.123680889T>A	ENSP00000360171:p.Tyr829Phe		B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	hg19	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	T	11.45	1.641329	0.29157	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	T;T	0.11169	2.8;2.8	5.32	5.32	0.75619	.	0.304797	0.31772	N	0.007082	T	0.05090	0.0136	N	0.08118	0	0.32290	N	0.566467	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.08055	0.003;0.001;0.002	T	0.23332	-1.0191	10	0.10902	T	0.67	.	9.7127	0.40256	0.1566:0.0:0.0:0.8434	.	828;829;829	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	F	829	ENSP00000360171:Y829F;ENSP00000403954:Y829F	ENSP00000360171:Y829F	Y	-	2	0	ODZ1	123508570	1.000000	0.71417	0.954000	0.39281	0.787000	0.44495	3.654000	0.54453	1.955000	0.56771	0.481000	0.45027	TAT		0.403	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		A	123680889	T	A	123680889	3	1	671	1	0	0	0	0	1	0	0	0	10836	1406	49	5	5784	5	ODZ1	23	123680889	Missense_Mutation	SNP	T	TCGA-HE-7130-01A-11D-1961-08	478433	123680889	31589671	140	36895											
AGRN	375790	hgsc.bcm.edu	37	1	957703	957703	+	Silent	SNP	C	C	A			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr1:957703C>A	ENST00000379370.2	+	2	374	c.324C>A	c.(322-324)tcC>tcA	p.S108S		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	108	NtA. {ECO:0000255|PROSITE- ProRule:PRU00443}.				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)		ACCAGGTGTCCACTGGGGACA	0.602																																																0													131	137	135					1																	957703		2203	4300	6503	SO:0001819	synonymous_variant	375790			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.324C>A	chr1.hg19:g.957703C>A			Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Silent	SNP	ENST00000379370.2	hg19	CCDS30551.1																																																																																				0.602	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576		A	957703	C	A	957703	2	1	672	1	0	0	0	0	0	0	0	1	397	581	21	4		4	AGRN	1	957703	Silent	SNP	C	TCGA-HE-A5NF-01A-11D-A26P-10		957703	248292918	1	36896											
OTUD3	23252	hgsc.bcm.edu	37	1	20233031	20233031	+	Silent	SNP	T	T	C			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr1:20233031T>C	ENST00000375120.3	+	7	943	c.942T>C	c.(940-942)aaT>aaC	p.N314N		NM_015207.1	NP_056022.1	Q5T2D3	OTUD3_HUMAN	OTU deubiquitinase 3	314					protein K11-linked deubiquitination (GO:0035871)|protein K6-linked deubiquitination (GO:0044313)		ubiquitin-specific protease activity (GO:0004843)			breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AGGGCTTAAATGAAGGCAGGA	0.488																																																0													107	112	110					1																	20233031		1980	4166	6146	SO:0001819	synonymous_variant	23252			AB007928	CCDS41279.1	1p36.13	2014-02-24	2014-02-24		ENSG00000169914	ENSG00000169914		"OTU domain containing"	29038	protein-coding gene	gene with protein product		611758	"OTU domain containing 3"			9455484, 23827681	Standard	NM_015207		Approved	KIAA0459, DUBA4	uc001bcs.4	Q5T2D3	OTTHUMG00000002696	ENST00000375120.3:c.942T>C	chr1.hg19:g.20233031T>C			O75047	Silent	SNP	ENST00000375120.3	hg19	CCDS41279.1																																																																																				0.488	OTUD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007655.1			C	20233031	T	C	20233031	2	2	672	1	0	0	0	0	0	0	0	1	11315	1461	51	3		3	OTUD3	1	20233031	Silent	SNP	T	TCGA-HE-A5NF-01A-11D-A26P-10	19275328	20233031	229017590	2	36897											
KANK4	163782	hgsc.bcm.edu	37	1	62739262	62739262	+	Missense_Mutation	SNP	C	C	T			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr1:62739262C>T	ENST00000371153.4	-	3	1892	c.1514G>A	c.(1513-1515)gGc>gAc	p.G505D	KANK4_ENST00000354381.3_Intron|KANK4_ENST00000371150.1_5'Flank	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	505						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						CTGTTCAGTGCCTGCTTCTTC	0.602																																																0													74	76	75					1																	62739262		2203	4300	6503	SO:0001583	missense	163782			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.1514G>A	chr1.hg19:g.62739262C>T	ENSP00000360195:p.Gly505Asp		B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Missense_Mutation	SNP	ENST00000371153.4	hg19	CCDS620.1	.	.	.	.	.	.	.	.	.	.	C	6.119	0.390267	0.11581	.	.	ENSG00000132854	ENST00000371153	T	0.45668	0.89	5.0	-4.67	0.03319	.	0.629621	0.13219	N	0.404541	T	0.18173	0.0436	N	0.20685	0.6	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24333	-1.0163	10	0.14656	T	0.56	-0.895	4.4402	0.11570	0.4045:0.2134:0.0:0.382	.	505	Q5T7N3	KANK4_HUMAN	D	505	ENSP00000360195:G505D	ENSP00000360195:G505D	G	-	2	0	KANK4	62511850	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.315000	0.08081	-0.487000	0.06735	-0.880000	0.02959	GGC		0.602	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024877.1	NM_181712		T	62739262	C	T	62739262	3	4	672	1	0	0	0	0	1	0	0	0	7981	739	26	2	1505	2	KANK4	1	62739262	Missense_Mutation	SNP	C	TCGA-HE-A5NF-01A-11D-A26P-10	42506231	62739262	186511359	3	36898											
SYDE2	84144	hgsc.bcm.edu	37	1	85648463	85648463	+	Missense_Mutation	SNP	A	A	T			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr1:85648463A>T	ENST00000341460.5	-	3	1911	c.1862T>A	c.(1861-1863)cTt>cAt	p.L621H		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	621					activation of Rho GTPase activity (GO:0032862)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		TCCATCACTAAGGTAACCACC	0.378																																																0													86	80	82					1																	85648463		1853	4086	5939	SO:0001583	missense	84144			AL834286	CCDS44169.1	1p22.3	2008-02-05		2005-08-09	ENSG00000097096	ENSG00000097096			25841	protein-coding gene	gene with protein product							Standard	NM_032184		Approved	FLJ13815	uc009wcm.3	Q5VT97	OTTHUMG00000009956	ENST00000341460.5:c.1862T>A	chr1.hg19:g.85648463A>T	ENSP00000340594:p.Leu621His		Q5VT96|Q8NDB8|Q9H8A6	Missense_Mutation	SNP	ENST00000341460.5	hg19	CCDS44169.1	.	.	.	.	.	.	.	.	.	.	A	18.98	3.737544	0.69304	.	.	ENSG00000097096	ENST00000341460	T	0.25749	1.78	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.46502	0.1396	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.54125	-0.8340	10	0.87932	D	0	.	15.6946	0.77484	1.0:0.0:0.0:0.0	.	621;621	Q5VT97;Q5VT97-2	SYDE2_HUMAN;.	H	621	ENSP00000340594:L621H	ENSP00000340594:L621H	L	-	2	0	SYDE2	85421051	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.923000	0.92808	2.116000	0.64780	0.454000	0.30748	CTT		0.378	SYDE2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127989.2			T	85648463	A	T	85648463	3	4	672	1	0	0	0	0	1	0	0	0	15441	72	3	5	1742	5	SYDE2	1	85648463	Missense_Mutation	SNP	A	TCGA-HE-A5NF-01A-11D-A26P-10	22909201	85648463	163602158	4	36899											
NTRK1	4914	hgsc.bcm.edu	37	1	156851384	156851384	+	Silent	SNP	C	C	T			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr1:156851384C>T	ENST00000524377.1	+	17	2382	c.2341C>T	c.(2341-2343)Ctg>Ttg	p.L781L	NTRK1_ENST00000368196.3_Silent_p.L775L|NTRK1_ENST00000392302.2_Silent_p.L745L|NTRK1_ENST00000358660.3_Silent_p.L778L|NTRK1_ENST00000531606.1_3'UTR	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	781	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)	GCACGCCCGGCTGCAAGCCCT	0.697			T	"TPM3, TPR, TFG"	papillary thyroid					TSP Lung(10;0.080)																													Dom	yes		1	1q21-q22	4914	"neurotrophic tyrosine kinase, receptor, type 1"		E	0													23	24	24					1																	156851384		2202	4297	6499	SO:0001819	synonymous_variant	4914			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.2341C>T	chr1.hg19:g.156851384C>T			B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Silent	SNP	ENST00000524377.1	hg19	CCDS1161.1																																																																																				0.697	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529		T	156851384	C	T	156851384	2	4	672	1	0	0	0	0	0	0	0	1	10708	796	28	2		2	NTRK1	1	156851384	Silent	SNP	C	TCGA-HE-A5NF-01A-11D-A26P-10	71202921	156851384	92399237	5	36900											
ARHGEF4	50649	hgsc.bcm.edu	37	2	131801154	131801154	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr2:131801154delA	ENST00000326016.5	+	11	2116	c.1597delA	c.(1597-1599)aagfs	p.K533fs	ARHGEF4_ENST00000392953.3_Frame_Shift_Del_p.K533fs|ARHGEF4_ENST00000525839.1_Frame_Shift_Del_p.K533fs|ARHGEF4_ENST00000409303.1_Frame_Shift_Del_p.K473fs|ARHGEF4_ENST00000355771.3_Frame_Shift_Del_p.K462fs|ARHGEF4_ENST00000428230.2_Intron	NM_015320.2	NP_056135.2	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	533	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)		CTACTGTAAGAAGGTACCAGA	0.572																																																0													97	87	90					2																	131801154		2203	4300	6503	SO:0001589	frameshift_variant	50649			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.1597delA	chr2.hg19:g.131801154delA	ENSP00000316845:p.Lys533fs		Q9HDC6|Q9UPP0	Frame_Shift_Del	DEL	ENST00000326016.5	hg19	CCDS2165.1																																																																																				0.572	ARHGEF4-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254554.4			-	131801154	A	-	131801154	7	5	672	1	0	1	0	1	0	0	0	0	908	247	9	0	1631	0	ARHGEF4	2	131801154	Frame_Shift_Del	DEL	A	TCGA-HE-A5NF-01A-11D-A26P-10		131801154	111398219	6	36901											
ERMN	57471	hgsc.bcm.edu	37	2	158178038	158178038	+	Missense_Mutation	SNP	T	T	A			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr2:158178038T>A	ENST00000410096.1	-	3	891	c.600A>T	c.(598-600)gaA>gaT	p.E200D	ERMN_ENST00000397283.2_Missense_Mutation_p.E213D|ERMN_ENST00000420719.2_Missense_Mutation_p.E180D|ERMN_ENST00000535935.1_Missense_Mutation_p.E94D	NM_020711.1	NP_065762.1	Q8TAM6	ERMIN_HUMAN	ermin, ERM-like protein	200					actin filament organization (GO:0007015)|morphogenesis of a branching structure (GO:0001763)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|internode region of axon (GO:0033269)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|paranode region of axon (GO:0033270)				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						TCACTCGAACTtcatcttcat	0.383																																																0													122	118	119					2																	158178038		1908	4131	6039	SO:0001583	missense	57471			AB033015	CCDS42764.1, CCDS46431.1	2q24	2008-02-05	2008-01-15	2008-01-15	ENSG00000136541	ENSG00000136541			29208	protein-coding gene	gene with protein product	"juxtanodin", "ermin"	610072	"KIAA1189"	KIAA1189		16051705, 16421295	Standard	NM_020711		Approved	JN, ERMIN	uc002tzi.3	Q8TAM6	OTTHUMG00000153843	ENST00000410096.1:c.600A>T	chr2.hg19:g.158178038T>A	ENSP00000387047:p.Glu200Asp		B4DKA6|Q9ULN1	Missense_Mutation	SNP	ENST00000410096.1	hg19	CCDS46431.1	.	.	.	.	.	.	.	.	.	.	T	13.62	2.290199	0.40494	.	.	ENSG00000136541	ENST00000410096;ENST00000397283;ENST00000535935;ENST00000420719	.	.	.	5.81	4.66	0.58398	.	0.162184	0.43416	D	0.000573	T	0.48021	0.1477	L	0.36672	1.1	0.28039	N	0.933847	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.66602	0.945;0.945;0.945	T	0.37549	-0.9701	9	0.38643	T	0.18	.	8.1808	0.31309	0.0:0.1976:0.0:0.8024	.	180;213;200	B4DIZ1;Q8TAM6-2;Q8TAM6	.;.;ERMIN_HUMAN	D	200;213;94;180	.	ENSP00000380453:E213D	E	-	3	2	ERMN	157886284	0.998000	0.40836	1.000000	0.80357	0.979000	0.70002	0.434000	0.21494	1.031000	0.39867	0.533000	0.62120	GAA		0.383	ERMN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332659.1	NM_001009959		A	158178038	T	A	158178038	3	1	672	1	0	0	0	0	1	0	0	0	5237	1606	56	5	258	5	ERMN	2	158178038	Missense_Mutation	SNP	T	TCGA-HE-A5NF-01A-11D-A26P-10	26376884	158178038	85021335	7	36902											
UBR3	130507	hgsc.bcm.edu	37	2	170762609	170762609	+	Missense_Mutation	SNP	T	T	A			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr2:170762609T>A	ENST00000272793.5	+	10	1764	c.1714T>A	c.(1714-1716)Ttt>Att	p.F572I	UBR3_ENST00000418381.1_Missense_Mutation_p.F572I			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	572					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						CTATGCTGCCTTTGCTGCTGA	0.388																																																0													116	103	107					2																	170762609		692	1591	2283	SO:0001583	missense	130507			AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"Ubiquitin protein ligase E3 component n-recognins"	30467	protein-coding gene	gene with protein product		613831	"zinc finger protein 650"	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.1714T>A	chr2.hg19:g.170762609T>A	ENSP00000272793:p.Phe572Ile		B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Missense_Mutation	SNP	ENST00000272793.5	hg19		.	.	.	.	.	.	.	.	.	.	T	34	5.361453	0.95877	.	.	ENSG00000144357	ENST00000272793;ENST00000442603;ENST00000418381	T;T	0.58060	0.36;0.36	5.58	5.58	0.84498	.	.	.	.	.	T	0.64316	0.2587	L	0.43923	1.385	0.80722	D	1	D	0.57899	0.981	D	0.69824	0.966	T	0.60835	-0.7184	9	0.30854	T	0.27	.	15.7431	0.77918	0.0:0.0:0.0:1.0	.	572	Q6ZT12	UBR3_HUMAN	I	572	ENSP00000272793:F572I;ENSP00000396068:F572I	ENSP00000272793:F572I	F	+	1	0	UBR3	170470855	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.040000	0.89188	2.116000	0.64780	0.482000	0.46254	TTT		0.388	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255290.2	NM_172070		A	170762609	T	A	170762609	3	1	672	1	0	0	0	0	1	0	0	0	16908	1609	56	5	1752	5	UBR3	2	170762609	Missense_Mutation	SNP	T	TCGA-HE-A5NF-01A-11D-A26P-10	12584571	170762609	72436764	8	36903											
OBSL1	23363	hgsc.bcm.edu	37	2	220416332	220416332	+	Missense_Mutation	SNP	G	G	T			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr2:220416332G>T	ENST00000404537.1	-	20	5658	c.5602C>A	c.(5602-5604)Cat>Aat	p.H1868N	OBSL1_ENST00000265318.4_3'UTR|OBSL1_ENST00000373876.1_Missense_Mutation_p.H1776N|MIR3132_ENST00000581997.1_RNA	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1868	Ig-like 14.				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)		CGAACGTCATGGATGACCAGG	0.657																																																0													32	37	36					2																	220416332		2086	4208	6294	SO:0001583	missense	23363			BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.5602C>A	chr2.hg19:g.220416332G>T	ENSP00000385636:p.His1868Asn		A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	ENST00000404537.1	hg19	CCDS46520.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.174528	0.38413	.	.	ENSG00000124006	ENST00000404537;ENST00000373876	T;T	0.65916	-0.18;-0.18	5.32	3.38	0.38709	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.53449	0.1797	L	0.28344	0.845	0.80722	D	1	B	0.27192	0.171	B	0.41691	0.364	T	0.43798	-0.9369	9	0.21540	T	0.41	.	9.4425	0.38677	0.0:0.1395:0.5724:0.2881	.	1868	O75147	OBSL1_HUMAN	N	1868;1776	ENSP00000385636:H1868N;ENSP00000362983:H1776N	ENSP00000362983:H1776N	H	-	1	0	OBSL1	220124576	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.056000	0.57448	1.220000	0.43490	0.655000	0.94253	CAT		0.657	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1			T	220416332	G	T	220416332	3	4	672	1	0	0	0	0	1	0	0	0	10815	1348	47	4	96	4	OBSL1	2	220416332	Missense_Mutation	SNP	G	TCGA-HE-A5NF-01A-11D-A26P-10	49653723	220416332	22783041	9	36904											
SNED1	25992	hgsc.bcm.edu	37	2	242026825	242026825	+	Silent	SNP	A	A	T			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr2:242026825A>T	ENST00000310397.8	+	30	4140	c.4140A>T	c.(4138-4140)cgA>cgT	p.R1380R	SNED1_ENST00000342631.6_Silent_p.R1347R|SNED1_ENST00000405547.3_Intron|MTERFD2_ENST00000464344.2_Intron	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	1380					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)		GAGTCTACCGAGTTCACCAAG	0.488																																																0													50	46	47					2																	242026825		1886	4111	5997	SO:0001819	synonymous_variant	25992			AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"Fibronectin type III domain containing"	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.4140A>T	chr2.hg19:g.242026825A>T			B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Silent	SNP	ENST00000310397.8	hg19	CCDS46562.1																																																																																				0.488	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323935.2	XM_059482		T	242026825	A	T	242026825	2	4	672	1	0	0	0	0	0	0	0	1	14851	291	11	5		5	SNED1	2	242026825	Silent	SNP	A	TCGA-HE-A5NF-01A-11D-A26P-10	21610493	242026825	1172548	10	36905											
SRGAP3	9901	hgsc.bcm.edu	37	3	9100033	9100033	+	Missense_Mutation	SNP	G	G	T			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr3:9100033G>T	ENST00000383836.3	-	7	1352	c.925C>A	c.(925-927)Ctg>Atg	p.L309M	SRGAP3_ENST00000433332.3_5'UTR|SRGAP3_ENST00000360413.3_Missense_Mutation_p.L309M	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	309	F-BAR domain.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CGGGAATCCAGGTTGTCCACT	0.552			T	RAF1	pilocytic astrocytoma																																		Dom	yes		3	3p25.3	9901	SLIT-ROBO Rho GTPase activating protein 3		M	0													246	203	218					3																	9100033		2203	4300	6503	SO:0001583	missense	9901			AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"Rho GTPase activating proteins"	19744	protein-coding gene	gene with protein product		606525	"SLIT-ROBO Rho GTPase activating protein 2"	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.925C>A	chr3.hg19:g.9100033G>T	ENSP00000373347:p.Leu309Met		Q8IX13|Q8IZV8	Missense_Mutation	SNP	ENST00000383836.3	hg19	CCDS2572.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.927507	0.52759	.	.	ENSG00000196220	ENST00000383836;ENST00000360413;ENST00000544908	T;T	0.14893	2.47;2.47	5.54	4.66	0.58398	.	0.000000	0.64402	D	0.000001	T	0.18800	0.0451	M	0.67397	2.05	0.58432	D	0.999993	B;B;B	0.30937	0.074;0.301;0.2	B;B;B	0.27796	0.083;0.083;0.038	T	0.01956	-1.1240	10	0.45353	T	0.12	.	10.889	0.46984	0.1445:0.0:0.8555:0.0	.	178;309;309	Q9ULR4;O43295-2;O43295	.;.;SRGP2_HUMAN	M	309;309;189	ENSP00000373347:L309M;ENSP00000353587:L309M	ENSP00000353587:L309M	L	-	1	2	SRGAP3	9075033	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.275000	0.43399	2.606000	0.88127	0.655000	0.94253	CTG		0.552	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3			T	9100033	G	T	9100033	3	4	672	1	0	0	0	0	1	0	0	0	15152	991	35	4	2473	4	SRGAP3	3	9100033	Missense_Mutation	SNP	G	TCGA-HE-A5NF-01A-11D-A26P-10		9100033	188922397	11	36906											
TBC1D5	9779	hgsc.bcm.edu	37	3	17550057	17550057	+	Silent	SNP	A	A	G			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr3:17550057A>G	ENST00000253692.7	-	3	1670	c.6T>C	c.(4-6)taT>taC	p.Y2Y	TBC1D5_ENST00000414318.2_Intron|TBC1D5_ENST00000429383.4_Silent_p.Y2Y|TBC1D5_ENST00000446818.2_Silent_p.Y2Y	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	2						retromer complex (GO:0030904)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						ATAAGGAATGATACATTGTGG	0.403																																																0													142	122	129					3																	17550057		2203	4300	6503	SO:0001819	synonymous_variant	9779			D86965	CCDS33714.1, CCDS46770.1	3p24.3	2013-07-09			ENSG00000131374	ENSG00000131374			19166	protein-coding gene	gene with protein product		615740				19531583	Standard	NM_014744		Approved	KIAA0210	uc003cbe.3	Q92609	OTTHUMG00000155488	ENST00000253692.7:c.6T>C	chr3.hg19:g.17550057A>G			A6NP25|C9JP52	Silent	SNP	ENST00000253692.7	hg19	CCDS33714.1																																																																																				0.403	TBC1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340301.3	NM_014744		G	17550057	A	G	17550057	2	3	672	1	0	0	0	0	0	0	0	1	15628	340	12	3		3	TBC1D5	3	17550057	Silent	SNP	A	TCGA-HE-A5NF-01A-11D-A26P-10	8450024	17550057	180472373	12	36907											
STAG1	10274	hgsc.bcm.edu	37	3	136060303	136060303	+	Missense_Mutation	SNP	T	T	A			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr3:136060303T>A	ENST00000383202.2	-	31	3793	c.3537A>T	c.(3535-3537)agA>agT	p.R1179S	STAG1_ENST00000536929.1_Missense_Mutation_p.R763S|STAG1_ENST00000434713.2_Missense_Mutation_p.R919S|STAG1_ENST00000236698.5_Intron	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	1179					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)			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						TCACTCCAGTTCTCACTTTCA	0.423																																																0													273	206	228					3																	136060303		2203	4300	6503	SO:0001583	missense	10274			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.3537A>T	chr3.hg19:g.136060303T>A	ENSP00000372689:p.Arg1179Ser		O00539|Q6P275	Missense_Mutation	SNP	ENST00000383202.2	hg19	CCDS3090.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.970648	0.74246	.	.	ENSG00000118007	ENST00000383202;ENST00000434713;ENST00000536929	T;T;T	0.50277	1.31;0.75;0.97	5.91	3.52	0.40303	.	0.100808	0.64402	D	0.000003	T	0.50633	0.1627	M	0.63843	1.955	0.54753	D	0.999983	D	0.60160	0.987	P	0.54174	0.744	T	0.47724	-0.9095	10	0.13108	T	0.6	.	8.6846	0.34229	0.0:0.2062:0.0:0.7938	.	1179	Q8WVM7	STAG1_HUMAN	S	1179;919;763	ENSP00000372689:R1179S;ENSP00000404396:R919S;ENSP00000445787:R763S	ENSP00000372689:R1179S	R	-	3	2	STAG1	137542993	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.775000	0.26689	0.483000	0.27608	0.528000	0.53228	AGA		0.423	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	NM_005862		A	136060303	T	A	136060303	3	1	672	1	0	0	0	0	1	0	0	0	15247	1780	62	5	255	5	STAG1	3	136060303	Missense_Mutation	SNP	T	TCGA-HE-A5NF-01A-11D-A26P-10	118510246	136060303	61962127	13	36908											
UBE2K	3093	hgsc.bcm.edu	37	4	39757353	39757353	+	Missense_Mutation	SNP	A	A	G			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr4:39757353A>G	ENST00000261427.5	+	4	577	c.293A>G	c.(292-294)gAt>gGt	p.D98G	UBE2K_ENST00000438068.2_3'UTR|UBE2K_ENST00000503368.1_Missense_Mutation_p.D47G|UBE2K_ENST00000295963.6_Intron|UBE2K_ENST00000445950.2_Missense_Mutation_p.D98G	NM_001111112.1|NM_005339.4	NP_001104582.1|NP_005330.1	P61086	UBE2K_HUMAN	ubiquitin-conjugating enzyme E2K	98					intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|protein K48-linked ubiquitination (GO:0070936)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)			large_intestine(1)|lung(1)|ovary(2)	4						ATCCTGAAAGATCAATGGTAA	0.343																																					NSCLC(101;689 1592 16105 29682 31745)											0													152	150	151					4																	39757353		2203	4300	6503	SO:0001583	missense	3093			U58522	CCDS33976.1, CCDS47043.1, CCDS47044.1	4p14	2011-05-19	2011-05-19	2007-12-04	ENSG00000078140	ENSG00000078140		"Ubiquitin-conjugating enzymes E2"	4914	protein-coding gene	gene with protein product		602846	"huntingtin interacting protein 2", "ubiquitin-conjugating enzyme E2K (UBC1 homolog, yeast)"	HIP2		8702625, 17873885	Standard	NM_005339		Approved	HYPG, UBC1	uc003guu.4	P61086	OTTHUMG00000160543	ENST00000261427.5:c.293A>G	chr4.hg19:g.39757353A>G	ENSP00000261427:p.Asp98Gly		A6NJC1|A8K5Y9|B2RDF8|C9JGP1|O54806|P27924|Q16721|Q9CVV9|Q9Y2D3	Missense_Mutation	SNP	ENST00000261427.5	hg19	CCDS33976.1	.	.	.	.	.	.	.	.	.	.	A	28.0	4.885370	0.91814	.	.	ENSG00000078140	ENST00000261427;ENST00000503368;ENST00000445950	T;T;T	0.72835	-0.69;-0.69;-0.69	5.98	5.98	0.97165	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	D	0.82935	0.5145	M	0.74467	2.265	0.80722	D	1	D;D;B	0.61697	0.97;0.99;0.034	D;D;B	0.66497	0.925;0.944;0.131	D	0.84525	0.0630	10	0.62326	D	0.03	-22.3267	15.4553	0.75308	1.0:0.0:0.0:0.0	.	98;47;98	P61086;P61086-2;C9JGP1	UBE2K_HUMAN;.;.	G	98;47;98	ENSP00000261427:D98G;ENSP00000421203:D47G;ENSP00000390483:D98G	ENSP00000261427:D98G	D	+	2	0	UBE2K	39433748	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.872000	0.92352	2.296000	0.77279	0.482000	0.46254	GAT		0.343	UBE2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361061.1	NM_005339		G	39757353	A	G	39757353	3	3	672	1	0	0	0	0	1	0	0	0	16867	333	12	3	307	3	UBE2K	4	39757353	Missense_Mutation	SNP	A	TCGA-HE-A5NF-01A-11D-A26P-10		39757353	151396923	14	36909											
OCIAD2	132299	hgsc.bcm.edu	37	4	48887522	48887522	+	Missense_Mutation	SNP	G	G	T			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr4:48887522G>T	ENST00000508632.1	-	7	676	c.444C>A	c.(442-444)gaC>gaA	p.D148E	OCIAD2_ENST00000273860.4_3'UTR|OCIAD2_ENST00000508069.2_5'UTR	NM_001014446.1	NP_001014446.1	Q56VL3	OCAD2_HUMAN	OCIA domain containing 2	148						endosome (GO:0005768)|mitochondrial inner membrane (GO:0005743)				kidney(1)|lung(3)|skin(1)|urinary_tract(1)	6						AAGGCTGAGAGTCTCCCTTCT	0.368																																																0													185	180	182					4																	48887522		2203	4300	6503	SO:0001583	missense	132299			BC032808	CCDS3485.1, CCDS33981.1	4p12	2013-10-11			ENSG00000145247	ENSG00000145247			28685	protein-coding gene	gene with protein product						17054434	Standard	NM_001286774		Approved	MGC45416	uc003gyt.3	Q56VL3	OTTHUMG00000128626	ENST00000508632.1:c.444C>A	chr4.hg19:g.48887522G>T	ENSP00000423014:p.Asp148Glu		B4DPE7|Q8N544	Missense_Mutation	SNP	ENST00000508632.1	hg19	CCDS33981.1	.	.	.	.	.	.	.	.	.	.	G	5.308	0.242112	0.10077	.	.	ENSG00000145247	ENST00000508632	T	0.41758	0.99	5.25	-4.51	0.03483	.	0.562361	0.17338	N	0.177837	T	0.15349	0.0370	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18178	-1.0345	9	.	.	.	1.3177	6.0446	0.19752	0.3698:0.2579:0.3723:0.0	.	148	Q56VL3	OCAD2_HUMAN	E	148	ENSP00000423014:D148E	.	D	-	3	2	OCIAD2	48582279	0.006000	0.16342	0.000000	0.03702	0.004000	0.04260	-0.089000	0.11180	-1.031000	0.03308	-0.302000	0.09304	GAC		0.368	OCIAD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361984.5	NM_152398		T	48887522	G	T	48887522	3	4	672	1	0	0	0	0	1	0	0	0	10820	1020	36	4	24	4	OCIAD2	4	48887522	Missense_Mutation	SNP	G	TCGA-HE-A5NF-01A-11D-A26P-10	9130169	48887522	142266754	15	36910											
ADH1B	125	hgsc.bcm.edu	37	4	100231924	100231924	+	Silent	SNP	T	T	C			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr4:100231924T>C	ENST00000305046.8	-	8	1168	c.1101A>G	c.(1099-1101)aaA>aaG	p.K367K	ADH1B_ENST00000394887.3_Silent_p.K327K			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	367					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)	AAATCTACCTTTTCCCAGAGT	0.333																																																0													72	72	72					4																	100231924		2202	4300	6502	SO:0001819	synonymous_variant	125			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.1101A>G	chr4.hg19:g.100231924T>C			A8MYN5|B4DRS9|B4DVC3|Q13711|Q4ZGI9|Q96KI7	Silent	SNP	ENST00000305046.8	hg19	CCDS34033.1																																																																																				0.333	ADH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364853.1	NM_000668		C	100231924	T	C	100231924	2	2	672	1	0	0	0	0	0	0	0	1	308	1838	64	3		3	ADH1B	4	100231924	Silent	SNP	T	TCGA-HE-A5NF-01A-11D-A26P-10	51344402	100231924	90922352	16	36911											
FAT4	79633	hgsc.bcm.edu	37	4	126408614	126408614	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr4:126408614delA	ENST00000394329.3	+	16	12944	c.12931delA	c.(12931-12933)aaafs	p.K4311fs	FAT4_ENST00000335110.5_Frame_Shift_Del_p.K2552fs	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4311	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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						TCTAATTGGGAAAAATGGAAC	0.403																																																0													82	83	83					4																	126408614		2203	4300	6503	SO:0001589	frameshift_variant	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.12931delA	chr4.hg19:g.126408614delA	ENSP00000377862:p.Lys4311fs		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Frame_Shift_Del	DEL	ENST00000394329.3	hg19	CCDS3732.3																																																																																				0.403	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		-	126408614	A	-	126408614	7	5	672	1	0	1	0	1	0	0	0	0	5694	247	9	0	12993	0	FAT4	4	126408614	Frame_Shift_Del	DEL	A	TCGA-HE-A5NF-01A-11D-A26P-10	26176690	126408614	64745662	17	36912											
SLC6A3	6531	hgsc.bcm.edu	37	5	1394869	1394869	+	Missense_Mutation	SNP	C	C	T			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr5:1394869C>T	ENST00000270349.9	-	15	1971	c.1844G>A	c.(1843-1845)cGc>cAc	p.R615H	SLC6A3_ENST00000453492.2_Missense_Mutation_p.R615H	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	615					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.R615P(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)	GAGCCAGTGGCGGAGCTGGAA	0.522																																																1	Substitution - Missense(1)	lung(1)											101	100	100					5																	1394869		2203	4300	6503	SO:0001583	missense	6531				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.1844G>A	chr5.hg19:g.1394869C>T	ENSP00000270349:p.Arg615His		A2RUN4|Q14996	Missense_Mutation	SNP	ENST00000270349.9	hg19	CCDS3863.1	.	.	.	.	.	.	.	.	.	.	C	11.40	1.627534	0.28978	.	.	ENSG00000142319	ENST00000270349;ENST00000453492	T;T	0.74632	-0.86;-0.86	4.79	2.97	0.34412	.	0.585459	0.14305	N	0.328004	T	0.53834	0.1821	N	0.12182	0.205	0.32012	N	0.60198	B	0.16802	0.019	B	0.13407	0.009	T	0.56643	-0.7945	10	0.49607	T	0.09	.	6.8118	0.23809	0.0:0.7896:0.0:0.2104	.	615	Q01959	SC6A3_HUMAN	H	615	ENSP00000270349:R615H;ENSP00000399806:R615H	ENSP00000270349:R615H	R	-	2	0	SLC6A3	1447869	1.000000	0.71417	0.999000	0.59377	0.917000	0.54804	0.574000	0.23714	1.139000	0.42245	0.655000	0.94253	CGC		0.522	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044		T	1394869	C	T	1394869	3	4	672	1	0	0	0	0	1	0	0	0	14691	768	27	1	22	1	SLC6A3	5	1394869	Missense_Mutation	SNP	C	TCGA-HE-A5NF-01A-11D-A26P-10		1394869	179520391	18	36913											
MEGF10	84466	hgsc.bcm.edu	37	5	126790286	126790286	+	Missense_Mutation	SNP	G	G	T			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr5:126790286G>T	ENST00000274473.6	+	24	3276	c.3009G>T	c.(3007-3009)atG>atT	p.M1003I	MEGF10_ENST00000510828.1_3'UTR|MEGF10_ENST00000503335.2_Missense_Mutation_p.M1003I	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	1003	Necessary for formation of large intracellular vacuoles.				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)		GAAGCTATATGGGAAAATCCT	0.328																																																0													71	73	72					5																	126790286		2203	4300	6503	SO:0001583	missense	84466			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.3009G>T	chr5.hg19:g.126790286G>T	ENSP00000274473:p.Met1003Ile		Q68DE5|Q8WUL3	Missense_Mutation	SNP	ENST00000274473.6	hg19	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	G	13.08	2.130925	0.37630	.	.	ENSG00000145794	ENST00000503335;ENST00000274473	T;T	0.79940	-1.32;-1.32	6.03	5.16	0.70880	.	0.346611	0.28847	N	0.013959	T	0.62925	0.2468	N	0.08118	0	0.37163	D	0.902706	B	0.02656	0.0	B	0.04013	0.001	T	0.61461	-0.7058	10	0.24483	T	0.36	-5.9793	12.4451	0.55647	0.1344:0.0:0.8656:0.0	.	1003	Q96KG7	MEG10_HUMAN	I	1003	ENSP00000423354:M1003I;ENSP00000274473:M1003I	ENSP00000274473:M1003I	M	+	3	0	MEGF10	126818185	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.346000	0.52190	1.558000	0.49541	0.655000	0.94253	ATG		0.328	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446		T	126790286	G	T	126790286	3	4	672	1	0	0	0	0	1	0	0	0	9462	1348	47	4	3095	4	MEGF10	5	126790286	Missense_Mutation	SNP	G	TCGA-HE-A5NF-01A-11D-A26P-10	125395417	126790286	54124974	19	36914											
CTNNA1	1495	hgsc.bcm.edu	37	5	138118896	138118897	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10	GG	GG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr5:138118896_138118897delGG	ENST00000302763.7	+	3	226_227	c.136_137delGG	c.(136-138)gggfs	p.G46fs	CTNNA1_ENST00000355078.5_Intron|CTNNA1_ENST00000518825.1_Frame_Shift_Del_p.G46fs	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	46	Involved in homodimerization.				adherens junction organization (GO:0034332)|aging (GO:0007568)|apical junction assembly (GO:0043297)|axon regeneration (GO:0031103)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular protein localization (GO:0034613)|cellular response to indole-3-methanol (GO:0071681)|epithelial cell-cell adhesion (GO:0090136)|establishment or maintenance of cell polarity (GO:0007163)|gap junction assembly (GO:0016264)|male gonad development (GO:0008584)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell motility (GO:2000146)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|negative regulation of neuroblast proliferation (GO:0007406)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of smoothened signaling pathway (GO:0045880)|protein heterooligomerization (GO:0051291)|response to estrogen (GO:0043627)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|catenin complex (GO:0016342)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|gamma-catenin binding (GO:0045295)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|vinculin binding (GO:0017166)			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CAATAGTAAAGGGCCCTCTAAT	0.356																																																0																																										SO:0001589	frameshift_variant	1495			D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115			2509	protein-coding gene	gene with protein product		116805	"catenin (cadherin-associated protein), alpha 1 (102kD)"			1924379	Standard	XM_005271898		Approved	CAP102	uc003ldh.3	P35221		ENST00000302763.7:c.136_137delGG	chr5.hg19:g.138118896_138118897delGG	ENSP00000304669:p.Gly46fs		Q12795|Q8N1C0	Frame_Shift_Del	DEL	ENST00000302763.7	hg19	CCDS34243.1																																																																																				0.356	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373868.1	NM_001903		-	138118897	GG	-	138118896	7	5	672	1	0	1	0	1	0	0	0	0	4014	1000	35	0	142	0	CTNNA1	5	138118896	Frame_Shift_Del	DEL	GG	TCGA-HE-A5NF-01A-11D-A26P-10	11328610	138118896	42796364	20	36915											
ADAM19	8728	hgsc.bcm.edu	37	5	156908922	156908922	+	Missense_Mutation	SNP	C	C	A			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr5:156908922C>A	ENST00000517905.1	-	22	2624	c.2580G>T	c.(2578-2580)aaG>aaT	p.K860N	ADAM19_ENST00000394020.1_Missense_Mutation_p.K862N|ADAM19_ENST00000430702.2_Intron|ADAM19_ENST00000257527.4_Missense_Mutation_p.K860N			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	860					heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCGGGAGTGCCTTCTGGGGCG	0.622																																																0													12	15	14					5																	156908922		2201	4297	6498	SO:0001583	missense	8728			AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"ADAM metallopeptidase domain containing"	197	protein-coding gene	gene with protein product	"meltrin beta"	603640	"a disintegrin and metalloproteinase domain 19 (meltrin beta)"			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.2580G>T	chr5.hg19:g.156908922C>A	ENSP00000428654:p.Lys860Asn		Q9BZL5|Q9UHP2	Missense_Mutation	SNP	ENST00000517905.1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.8|20.8	4.047583|4.047583	0.75846|0.75846	.|.	.|.	ENSG00000135074|ENSG00000135074	ENST00000257527;ENST00000394020;ENST00000517905|ENST00000517374	T;T;T|.	0.01854|.	4.61;4.62;4.6|.	5.51|5.51	1.19|1.19	0.21007|0.21007	.|.	0.184073|.	0.37809|.	N|.	0.001925|.	T|T	0.50205|0.50205	0.1602|0.1602	L|L	0.50333|0.50333	1.59|1.59	0.35227|0.35227	D|D	0.776606|0.776606	D;D|.	0.76494|.	0.999;0.997|.	D;P|.	0.69479|.	0.964;0.888|.	T|T	0.54827|0.54827	-0.8235|-0.8235	10|5	0.87932|.	D|.	0|.	.|.	7.8|7.8	0.29168|0.29168	0.0:0.5227:0.0:0.4773|0.0:0.5227:0.0:0.4773	.|.	860;860|.	Q9H013-2;Q9H013|.	.;ADA19_HUMAN|.	N|M	860;862;860|431	ENSP00000257527:K860N;ENSP00000377588:K862N;ENSP00000428654:K860N|.	ENSP00000257527:K860N|.	K|R	-|-	3|2	2|0	ADAM19|ADAM19	156841500|156841500	0.995000|0.995000	0.38212|0.38212	0.997000|0.997000	0.53966|0.53966	0.977000|0.977000	0.68977|0.68977	0.140000|0.140000	0.16056|0.16056	0.304000|0.304000	0.22809|0.22809	0.561000|0.561000	0.74099|0.74099	AAG|AGG		0.622	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	NM_033274		A	156908922	C	A	156908922	3	1	672	1	0	0	0	0	1	0	0	0	240	680	24	4	184	4	ADAM19	5	156908922	Missense_Mutation	SNP	C	TCGA-HE-A5NF-01A-11D-A26P-10	18790026	156908922	24006338	21	36916											
UNC5CL	222643	hgsc.bcm.edu	37	6	41000635	41000635	+	Missense_Mutation	SNP	A	A	G			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr6:41000635A>G	ENST00000373164.1	-	3	997	c.937T>C	c.(937-939)Tac>Cac	p.Y313H	UNC5CL_ENST00000244565.3_Missense_Mutation_p.Y313H|UNC5CL_ENST00000470102.1_5'UTR			Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	313	Interaction with RELA and NFKB1.				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)					TCTGAGATGTACGTGAGCTTC	0.632																																																0													19	21	20					6																	41000635		2201	4299	6500	SO:0001583	missense	222643			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.937T>C	chr6.hg19:g.41000635A>G	ENSP00000362258:p.Tyr313His		Q5TGU1	Missense_Mutation	SNP	ENST00000373164.1	hg19	CCDS4847.1	.	.	.	.	.	.	.	.	.	.	A	7.812	0.716007	0.15306	.	.	ENSG00000124602	ENST00000244565;ENST00000373164	T;T	0.52526	0.66;0.66	5.43	5.43	0.79202	.	0.000000	0.40554	N	0.001066	T	0.16342	0.0393	N	0.24115	0.695	0.33409	D	0.578337	B	0.14438	0.01	B	0.12156	0.007	T	0.08785	-1.0705	10	0.19590	T	0.45	-29.4271	11.8914	0.52630	1.0:0.0:0.0:0.0	.	313	Q8IV45	UN5CL_HUMAN	H	313	ENSP00000244565:Y313H;ENSP00000362258:Y313H	ENSP00000244565:Y313H	Y	-	1	0	UNC5CL	41108613	1.000000	0.71417	1.000000	0.80357	0.566000	0.35808	4.569000	0.60865	2.042000	0.60477	0.533000	0.62120	TAC		0.632	UNC5CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040491.1	NM_173561		G	41000635	A	G	41000635	3	3	672	1	0	0	0	0	1	0	0	0	16999	391	14	3	643	3	UNC5CL	6	41000635	Missense_Mutation	SNP	A	TCGA-HE-A5NF-01A-11D-A26P-10		41000635	130114432	22	36917											
DEFB110	245913	hgsc.bcm.edu	37	6	49986835	49986835	+	Missense_Mutation	SNP	T	T	G			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr6:49986835T>G	ENST00000371148.2	-	2	104	c.59A>C	c.(58-60)aAa>aCa	p.K20T	DEFB110_ENST00000393660.2_Intron	NM_001037497.1	NP_001032586.1	Q30KQ9	DB110_HUMAN	defensin, beta 110 locus	20					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				endometrium(1)|lung(1)|ovary(1)	3	Lung NSC(77;0.042)					ATATTTCTTTTTGGCTGTAAG	0.353																																																0													129	126	127					6																	49986835		2203	4300	6503	SO:0001583	missense	245913			DQ012014, BC148541	CCDS43473.1, CCDS34475.1	6p12.3	2010-11-26	2010-11-26		ENSG00000203970	ENSG00000203970		"Defensins, beta"	18091	protein-coding gene	gene with protein product			"defensin, beta 110"			11854508, 16033865	Standard	NM_001037728		Approved	DEFB-10, DEFB-11, DEFB111	uc003pac.3	Q30KQ9	OTTHUMG00000160208	ENST00000371148.2:c.59A>C	chr6.hg19:g.49986835T>G	ENSP00000360190:p.Lys20Thr		Q30KR0	Missense_Mutation	SNP	ENST00000371148.2	hg19	CCDS34475.1	.	.	.	.	.	.	.	.	.	.	T	11.38	1.622246	0.28889	.	.	ENSG00000203970	ENST00000371148	.	.	.	4.77	-6.13	0.02118	.	0.904575	0.09377	N	0.810521	T	0.07954	0.0199	.	.	.	0.23882	N	0.996572	B	0.12630	0.006	B	0.12837	0.008	T	0.34700	-0.9818	7	.	.	.	-4.2088	9.1953	0.37224	0.0:0.6424:0.1253:0.2323	.	20	Q30KQ9	DB110_HUMAN	T	20	.	.	K	-	2	0	DEFB110	50094794	0.245000	0.23899	0.575000	0.28536	0.857000	0.48899	-1.073000	0.03430	-1.040000	0.03271	-0.408000	0.06270	AAA		0.353	DEFB110-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359664.1	NM_001037728		G	49986835	T	G	49986835	3	3	672	1	0	0	0	0	1	0	0	0	4402	1841	64	5	284	5	DEFB110	6	49986835	Missense_Mutation	SNP	T	TCGA-HE-A5NF-01A-11D-A26P-10	8986200	49986835	121128232	23	36918											
SERINC1	57515	hgsc.bcm.edu	37	6	122766258	122766258	+	Missense_Mutation	SNP	C	C	G			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr6:122766258C>G	ENST00000339697.4	-	10	1377	c.1293G>C	c.(1291-1293)tgG>tgC	p.W431C		NM_020755.2	NP_065806.1	Q9NRX5	SERC1_HUMAN	serine incorporator 1	431					L-serine transport (GO:0015825)|phosphatidylserine metabolic process (GO:0006658)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1)	13				GBM - Glioblastoma multiforme(226;0.126)		CGATGCCAATCCAACTGGAAG	0.428																																																0													107	96	99					6																	122766258		2203	4300	6503	SO:0001583	missense	57515			AF087902	CCDS5125.1	6q22.32	2006-02-09	2005-10-14	2005-10-14	ENSG00000111897	ENSG00000111897			13464	protein-coding gene	gene with protein product		614548	"tumor differentially expressed 2"	TDE2		10637174	Standard	NM_020755		Approved	TMS-2, TDE1L, KIAA1253	uc003pyy.1	Q9NRX5	OTTHUMG00000015487	ENST00000339697.4:c.1293G>C	chr6.hg19:g.122766258C>G	ENSP00000342962:p.Trp431Cys		B3KY69|E1P565|O75655|Q7Z2F5|Q8TAG1|Q9NTH8|Q9ULG7	Missense_Mutation	SNP	ENST00000339697.4	hg19	CCDS5125.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.569369	0.86439	.	.	ENSG00000111897	ENST00000339697;ENST00000368454	T;T	0.25579	1.79;1.79	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.62405	0.2425	H	0.96269	3.795	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75502	-0.3295	10	0.87932	D	0	-7.4299	19.5937	0.95526	0.0:1.0:0.0:0.0	.	431	Q9NRX5	SERC1_HUMAN	C	431	ENSP00000342962:W431C;ENSP00000357439:W431C	ENSP00000342962:W431C	W	-	3	0	SERINC1	122807957	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.798000	0.85924	2.629000	0.89072	0.655000	0.94253	TGG		0.428	SERINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042031.2	NM_020755		G	122766258	C	G	122766258	3	3	672	1	0	0	0	0	1	0	0	0	14085	856	30	4	72	4	SERINC1	6	122766258	Missense_Mutation	SNP	C	TCGA-HE-A5NF-01A-11D-A26P-10	72779423	122766258	48348809	24	36919											
AEBP1	165	hgsc.bcm.edu	37	7	44150535	44150535	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr7:44150535delG	ENST00000223357.3	+	13	1814	c.1509delG	c.(1507-1509)aagfs	p.K503fs	MIR4649_ENST00000582839.1_RNA|AEBP1_ENST00000450684.2_Frame_Shift_Del_p.K46fs	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	503	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.|Interaction with MAPK1 and MAPK3. {ECO:0000250}.|Required for DNA-binding and interaction with NFKBIA. {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						ACGTGGACAAGGACACACCCG	0.627																																																0													88	81	83					7																	44150535		2203	4300	6503	SO:0001589	frameshift_variant	165			D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"aortic carboxypeptidase-like protein", "adipocyte enhancer binding protein 1"	602981	"AE-binding protein 1"			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.1509delG	chr7.hg19:g.44150535delG	ENSP00000223357:p.Lys503fs		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Frame_Shift_Del	DEL	ENST00000223357.3	hg19	CCDS5476.1																																																																																				0.627	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	NM_001129		-	44150535	G	-	44150535	7	5	672	1	0	1	0	1	0	0	0	0	349	991	35	0	1559	0	AEBP1	7	44150535	Frame_Shift_Del	DEL	G	TCGA-HE-A5NF-01A-11D-A26P-10		44150535	114988128	25	36920											
DUSP26	78986	hgsc.bcm.edu	37	8	33454873	33454873	+	Missense_Mutation	SNP	G	G	T			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr8:33454873G>T	ENST00000256261.4	-	2	678	c.161C>A	c.(160-162)aCa>aAa	p.T54K	DUSP26_ENST00000523956.1_Missense_Mutation_p.T54K	NM_024025.1	NP_076930.1	Q9BV47	DUS26_HUMAN	dual specificity phosphatase 26 (putative)	54					negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell adhesion (GO:0045785)|positive regulation of peptidyl-serine dephosphorylation (GO:1902310)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	p53 binding (GO:0002039)|phosphoprotein phosphatase activity (GO:0004721)|phosphoserine phosphatase activity (GO:0004647)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA polymerase II activating transcription factor binding (GO:0001102)			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		TGTCTTGCCTGTGTAGAGGAG	0.572																																																0													69	52	58					8																	33454873		2203	4300	6503	SO:0001583	missense	78986			AY902194	CCDS6092.1	8p12	2014-09-09			ENSG00000133878	ENSG00000133878		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	28161	protein-coding gene	gene with protein product							Standard	NM_024025		Approved	MGC1136, DUSP24	uc003xjp.3	Q9BV47	OTTHUMG00000163961	ENST00000256261.4:c.161C>A	chr8.hg19:g.33454873G>T	ENSP00000256261:p.Thr54Lys		D3DSV8|Q9BTW0	Missense_Mutation	SNP	ENST00000256261.4	hg19	CCDS6092.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.638232	0.47153	.	.	ENSG00000133878	ENST00000256261;ENST00000523956;ENST00000522982	T;T;T	0.60040	0.22;0.22;0.22	5.5	5.5	0.81552	.	0.146976	0.64402	D	0.000010	T	0.43765	0.1262	L	0.27053	0.805	0.54753	D	0.999983	B	0.21520	0.057	B	0.20955	0.032	T	0.40776	-0.9545	10	0.05436	T	0.98	-14.8884	18.9825	0.92760	0.0:0.0:1.0:0.0	.	54	Q9BV47	DUS26_HUMAN	K	54	ENSP00000256261:T54K;ENSP00000429176:T54K;ENSP00000430922:T54K	ENSP00000256261:T54K	T	-	2	0	DUSP26	33574415	1.000000	0.71417	0.962000	0.40283	0.975000	0.68041	7.744000	0.85034	2.590000	0.87494	0.561000	0.74099	ACA		0.572	DUSP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376564.1	NM_024025		T	33454873	G	T	33454873	3	4	672	1	0	0	0	0	1	0	0	0	4825	1377	48	4	486	4	DUSP26	8	33454873	Missense_Mutation	SNP	G	TCGA-HE-A5NF-01A-11D-A26P-10		33454873	112909149	26	36921											
CA13	377677	hgsc.bcm.edu	37	8	86162972	86162972	+	Missense_Mutation	SNP	C	C	T			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr8:86162972C>T	ENST00000321764.3	+	2	343	c.41C>T	c.(40-42)cCt>cTt	p.P14L	CA13_ENST00000517298.1_3'UTR|RP11-219B4.6_ENST00000551479.1_5'Flank	NM_198584.2	NP_940986.1	Q8N1Q1	CAH13_HUMAN	carbonic anhydrase XIII	14					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)	ATTTAAGGTCCTATTCACTGG	0.338																																																0													62	64	63					8																	86162972		2203	4300	6503	SO:0001583	missense	377677			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.41C>T	chr8.hg19:g.86162972C>T	ENSP00000318912:p.Pro14Leu			Missense_Mutation	SNP	ENST00000321764.3	hg19	CCDS6236.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.887731	0.91814	.	.	ENSG00000185015	ENST00000321764	T	0.68624	-0.34	5.48	5.48	0.80851	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.000000	0.85682	D	0.000000	D	0.89361	0.6693	H	0.98133	4.155	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93109	0.6515	10	0.87932	D	0	-23.2453	19.3527	0.94395	0.0:1.0:0.0:0.0	.	14	Q8N1Q1	CAH13_HUMAN	L	14	ENSP00000318912:P14L	ENSP00000318912:P14L	P	+	2	0	CA13	86350224	1.000000	0.71417	0.973000	0.42090	0.987000	0.75469	7.044000	0.76578	2.567000	0.86603	0.563000	0.77884	CCT		0.338	CA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381066.1	NM_198584		T	86162972	C	T	86162972	3	4	672	1	0	0	0	0	1	0	0	0	2516	681	24	2	47	2	CA13	8	86162972	Missense_Mutation	SNP	C	TCGA-HE-A5NF-01A-11D-A26P-10	52708099	86162972	60201050	27	36922											
ADCY8	114	hgsc.bcm.edu	37	8	132002781	132002781	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr8:132002781G>A	ENST00000286355.5	-	2	3060	c.968C>T	c.(967-969)gCc>gTc	p.A323V	ADCY8_ENST00000377928.3_Missense_Mutation_p.A323V	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	323					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)			CACTGCCTGGGCCACAACCTA	0.428										HNSCC(32;0.087)																																						0													96	106	103					8																	132002781		2203	4300	6503	SO:0001583	missense	114			Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"Adenylate cyclases"	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.968C>T	chr8.hg19:g.132002781G>A	ENSP00000286355:p.Ala323Val			Missense_Mutation	SNP	ENST00000286355.5	hg19	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.767301	0.90020	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	T;T	0.81163	-1.46;-1.45	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.89326	0.6683	M	0.76002	2.32	0.58432	D	0.999991	D;P	0.63880	0.993;0.455	D;B	0.70227	0.968;0.214	D	0.88311	0.2956	10	0.44086	T	0.13	.	18.7877	0.91961	0.0:0.0:1.0:0.0	.	323;323	E7EVL1;P40145	.;ADCY8_HUMAN	V	323	ENSP00000286355:A323V;ENSP00000367161:A323V	ENSP00000286355:A323V	A	-	2	0	ADCY8	132071963	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.792000	0.99085	2.751000	0.94390	0.650000	0.86243	GCC		0.428	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			A	132002781	G	A	132002781	3	1	672	1	0	0	0	0	1	0	0	0	300	1203	42	2	2855	2	ADCY8	8	132002781	Missense_Mutation	SNP	G	TCGA-HE-A5NF-01A-11D-A26P-10	45839809	132002781	14361241	28	36923											
TG	7038	hgsc.bcm.edu	37	8	133899726	133899727	+	Frame_Shift_Ins	INS	-	-	TA			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr8:133899726_133899727insTA	ENST00000220616.4	+	9	2149_2150	c.2109_2110insTA	c.(2110-2112)tacfs	p.Y704fs	TG_ENST00000377869.1_Frame_Shift_Ins_p.Y704fs	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	704	Thyroglobulin type-1 6. {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)		ACTCAGAGTGCTACTGTGTTGA	0.515																																																0																																										SO:0001589	frameshift_variant	7038			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.2110_2111dupTA	chr8.hg19:g.133899727_133899728dupTA	ENSP00000220616:p.Tyr704fs		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Frame_Shift_Ins	INS	ENST00000220616.4	hg19	CCDS34944.1																																																																																				0.515	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		TA	133899727	-	TA	133899726	7	5	672	1	0	1	1	0	0	0	0	0	15818	805	28	0	2143	0	TG	8	133899726	Frame_Shift_Ins	INS	-	TCGA-HE-A5NF-01A-11D-A26P-10	1896945	133899726	12464296	29	36924											
RMI1	80010	hgsc.bcm.edu	37	9	86617525	86617525	+	Missense_Mutation	SNP	G	G	T			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr9:86617525G>T	ENST00000325875.3	+	3	1956	c.1624G>T	c.(1624-1626)Gat>Tat	p.D542Y		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	542					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						TGCATATCTAGATGTAGACTT	0.368																																																0													197	193	194					9																	86617525		2203	4300	6503	SO:0001583	missense	80010			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.1624G>T	chr9.hg19:g.86617525G>T	ENSP00000317039:p.Asp542Tyr		Q05BX1|Q05CW3|Q5SQG8|Q5SQG9|Q6P1Q4|Q6PI89|Q7Z6L6	Missense_Mutation	SNP	ENST00000325875.3	hg19	CCDS6669.1	.	.	.	.	.	.	.	.	.	.	G	15.78	2.935730	0.52972	.	.	ENSG00000178966	ENST00000325875	T	0.47177	0.85	5.29	5.29	0.74685	.	0.104013	0.64402	D	0.000005	T	0.61198	0.2328	L	0.55481	1.735	0.47659	D	0.999484	D	0.89917	1.0	D	0.70487	0.969	T	0.58702	-0.7590	9	.	.	.	-9.5894	12.6452	0.56731	0.0762:0.0:0.9238:0.0	.	542	Q9H9A7	RMI1_HUMAN	Y	542	ENSP00000317039:D542Y	.	D	+	1	0	RMI1	85807345	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	6.827000	0.75303	2.620000	0.88729	0.563000	0.77884	GAT		0.368	RMI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052870.1	NM_024945		T	86617525	G	T	86617525	3	4	672	1	0	0	0	0	1	0	0	0	13401	942	33	4	1626	4	RMI1	9	86617525	Missense_Mutation	SNP	G	TCGA-HE-A5NF-01A-11D-A26P-10		86617525	54595906	30	36925											
LPAR1	1902	hgsc.bcm.edu	37	9	113704022	113704022	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr9:113704022G>A	ENST00000374431.3	-	4	855	c.472C>T	c.(472-474)Cgg>Tgg	p.R158W	LPAR1_ENST00000374430.2_Missense_Mutation_p.R158W|LPAR1_ENST00000541779.1_Missense_Mutation_p.R159W|LPAR1_ENST00000538760.1_Missense_Mutation_p.R159W|LPAR1_ENST00000358883.4_Missense_Mutation_p.R158W	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	158					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|bleb assembly (GO:0032060)|cellular response to oxygen levels (GO:0071453)|G-protein coupled receptor signaling pathway (GO:0007186)|myelination (GO:0042552)|negative regulation of neuron projection development (GO:0010977)|positive regulation of apoptotic process (GO:0043065)|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 dendritic spine development (GO:0060999)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell chemotaxis (GO:0071673)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)	p.R158W(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						TTGCTCATCCGTGTGTGGAGC	0.542																																					NSCLC(115;661 2323 9836 34256)											1	Substitution - Missense(1)	large_intestine(1)											117	104	109					9																	113704022		2203	4300	6503	SO:0001583	missense	1902			U80811	CCDS6777.1	9q	2012-08-08	2008-04-11	2008-04-11	ENSG00000198121	ENSG00000198121		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	3166	protein-coding gene	gene with protein product		602282	"endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 2"	EDG2		8922387, 9070858	Standard	NM_001401		Approved	edg-2, rec.1.3, vzg-1, Gpcr26, Mrec1.3, LPA1, GPR26	uc004bfc.3	Q92633	OTTHUMG00000020486	ENST00000374431.3:c.472C>T	chr9.hg19:g.113704022G>A	ENSP00000363553:p.Arg158Trp		B4DK36|O00656|O00722|P78351	Missense_Mutation	SNP	ENST00000374431.3	hg19	CCDS6777.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.017060	0.75161	.	.	ENSG00000198121	ENST00000374431;ENST00000541779;ENST00000374430;ENST00000358883;ENST00000449490;ENST00000538760;ENST00000441240	T;T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07;1.07	5.53	4.64	0.57946	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.60301	0.2258	M	0.76328	2.33	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74348	0.983;0.983;0.983	T	0.63189	-0.6693	10	0.72032	D	0.01	.	8.4744	0.33005	0.0771:0.0:0.7707:0.1522	.	159;159;158	B4DQ18;B4DK36;Q92633	.;.;LPAR1_HUMAN	W	158;159;158;158;140;159;158	ENSP00000363553:R158W;ENSP00000445697:R159W;ENSP00000363552:R158W;ENSP00000351755:R158W;ENSP00000440201:R159W;ENSP00000401810:R158W	ENSP00000351755:R158W	R	-	1	2	LPAR1	112743843	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.528000	0.73807	1.357000	0.45904	0.655000	0.94253	CGG		0.542	LPAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053631.1	NM_057159		A	113704022	G	A	113704022	3	1	672	1	0	0	0	0	1	0	0	0	8906	1144	40	1	630	1	LPAR1	9	113704022	Missense_Mutation	SNP	G	TCGA-HE-A5NF-01A-11D-A26P-10	27086497	113704022	27509409	31	36926											
SPTAN1	6709	hgsc.bcm.edu	37	9	131362363	131362363	+	Missense_Mutation	SNP	A	A	T			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr9:131362363A>T	ENST00000372731.4	+	27	3658	c.3548A>T	c.(3547-3549)gAa>gTa	p.E1183V	SPTAN1_ENST00000372739.3_Missense_Mutation_p.E1183V|SPTAN1_ENST00000358161.5_Missense_Mutation_p.E1183V	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1183					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						GAATAGGATGAAACTGATTCC	0.433																																					NSCLC(120;833 1744 2558 35612 37579)											0													125	114	118					9																	131362363		2203	4300	6503	SO:0001583	missense	6709			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"EF-hand domain containing"	11273	protein-coding gene	gene with protein product	"alpha-fodrin"	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.3548A>T	chr9.hg19:g.131362363A>T	ENSP00000361816:p.Glu1183Val		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	hg19	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	A	17.11	3.305120	0.60305	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.51574	0.7;0.72;0.7	6.08	6.08	0.98989	.	0.142496	0.64402	D	0.000006	T	0.40398	0.1115	N	0.19112	0.55	0.80722	D	1	P;B;B;B	0.36733	0.567;0.384;0.384;0.265	B;B;B;B	0.39840	0.18;0.311;0.311;0.165	T	0.42103	-0.9471	10	0.87932	D	0	.	16.6438	0.85155	1.0:0.0:0.0:0.0	.	1183;1163;1183;1183	A6NG51;Q13813-3;Q13813-2;Q13813	.;.;.;SPTA2_HUMAN	V	1183;1183;1183;1163	ENSP00000350882:E1183V;ENSP00000361816:E1183V;ENSP00000361824:E1183V	ENSP00000350882:E1183V	E	+	2	0	SPTAN1	130402184	1.000000	0.71417	0.945000	0.38365	0.557000	0.35523	8.593000	0.90832	2.333000	0.79357	0.533000	0.62120	GAA		0.433	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		T	131362363	A	T	131362363	3	4	672	1	0	0	0	0	1	0	0	0	15122	246	9	5	3650	5	SPTAN1	9	131362363	Missense_Mutation	SNP	A	TCGA-HE-A5NF-01A-11D-A26P-10	17658341	131362363	9851068	32	36927											
LCN10	414332	hgsc.bcm.edu	37	9	139633991	139633991	+	Missense_Mutation	SNP	T	T	C			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr9:139633991T>C	ENST00000474369.1	-	5	549	c.550A>G	c.(550-552)Acc>Gcc	p.T184A	LCN10_ENST00000497771.1_Missense_Mutation_p.T197A|LCN10_ENST00000527229.1_Missense_Mutation_p.T161A|LCN6_ENST00000480584.1_5'Flank|LCN6_ENST00000435202.1_3'UTR			Q6JVE6	LCN10_HUMAN	lipocalin 10	184					transport (GO:0006810)	extracellular region (GO:0005576)				breast(2)|cervix(1)|large_intestine(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)		GGCAGGATGGTGTGTGTACGG	0.617																																																0													92	76	81					9																	139633991		2199	4295	6494	SO:0001583	missense	414332			AY301271	CCDS35182.2	9q34.3	2011-10-24			ENSG00000187922	ENSG00000187922		"Lipocalins"	20892	protein-coding gene	gene with protein product		612904				15363845	Standard	NM_001001712		Approved		uc004civ.3	Q6JVE6	OTTHUMG00000150428	ENST00000474369.1:c.550A>G	chr9.hg19:g.139633991T>C	ENSP00000420564:p.Thr184Ala		A2RUU3|B0QZ79	Missense_Mutation	SNP	ENST00000474369.1	hg19	CCDS35182.2	.	.	.	.	.	.	.	.	.	.	T	13.52	2.260996	0.39995	.	.	ENSG00000187922	ENST00000527229;ENST00000497771;ENST00000474369	T;T	0.33865	1.39;1.41	3.17	2.04	0.26737	.	0.000000	0.36002	U	0.002855	T	0.39655	0.1086	.	.	.	0.27101	N	0.962612	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.63957	0.92;0.92;0.92	T	0.17410	-1.0370	9	0.19147	T	0.46	-7.4152	4.3041	0.10938	0.0:0.1588:0.0:0.8412	.	161;184;197	E9PK15;Q6JVE6;Q6JVE6-2	.;LCN10_HUMAN;.	A	161;197;184	ENSP00000418491:T197A;ENSP00000420564:T184A	ENSP00000420564:T184A	T	-	1	0	LCN10	138753812	0.530000	0.26330	1.000000	0.80357	0.718000	0.41266	1.557000	0.36299	1.410000	0.46936	0.451000	0.29950	ACC		0.617	LCN10-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318062.2	NM_001001712		C	139633991	T	C	139633991	3	2	672	1	0	0	0	0	1	0	0	0	8683	1696	59	3	17	3	LCN10	9	139633991	Missense_Mutation	SNP	T	TCGA-HE-A5NF-01A-11D-A26P-10	8271628	139633991	1579440	33	36928											
CUBN	8029	hgsc.bcm.edu	37	10	16941145	16941145	+	Missense_Mutation	SNP	G	G	C			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr10:16941145G>C	ENST00000377833.4	-	54	8513	c.8448C>G	c.(8446-8448)atC>atG	p.I2816M		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2816	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)	GAGGGGATCTGATTGTACCAT	0.403																																																0													118	112	114					10																	16941145		2203	4300	6503	SO:0001583	missense	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.8448C>G	chr10.hg19:g.16941145G>C	ENSP00000367064:p.Ile2816Met		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	hg19	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	9.641	1.139005	0.21123	.	.	ENSG00000107611	ENST00000377833	T	0.40476	1.03	5.63	0.557	0.17260	CUB (5);	0.137522	0.33057	N	0.005332	T	0.64494	0.2603	M	0.93150	3.385	0.80722	D	1	D	0.60160	0.987	P	0.62298	0.9	T	0.64782	-0.6326	10	0.66056	D	0.02	.	7.5405	0.27735	0.1201:0.0:0.4925:0.3874	.	2816	O60494	CUBN_HUMAN	M	2816	ENSP00000367064:I2816M	ENSP00000367064:I2816M	I	-	3	3	CUBN	16981151	1.000000	0.71417	0.001000	0.08648	0.014000	0.08584	3.071000	0.50041	-0.070000	0.12908	-0.940000	0.02684	ATC		0.403	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		C	16941145	G	C	16941145	3	2	672	1	0	0	0	0	1	0	0	0	4053	1280	45	4	2479	4	CUBN	10	16941145	Missense_Mutation	SNP	G	TCGA-HE-A5NF-01A-11D-A26P-10		16941145	118593602	34	36929											
NUDT13	25961	hgsc.bcm.edu	37	10	74879794	74879794	+	Missense_Mutation	SNP	G	G	T			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr10:74879794G>T	ENST00000357321.4	+	3	220	c.102G>T	c.(100-102)aaG>aaT	p.K34N	NUDT13_ENST00000372997.3_Missense_Mutation_p.K34N|NUDT13_ENST00000488223.1_3'UTR|NUDT13_ENST00000544879.1_5'UTR|NUDT13_ENST00000537969.1_5'UTR|NUDT13_ENST00000349051.5_Missense_Mutation_p.K34N	NM_001283016.1|NM_015901.4	NP_001269945.1|NP_056985.3			nudix (nucleoside diphosphate linked moiety X)-type motif 13											large_intestine(2)|lung(5)	7	Prostate(51;0.0119)					TTGAACTGAAGGAAGATGATG	0.403																																																0													134	144	141					10																	74879794		2203	4300	6503	SO:0001583	missense	25961			AL050114	CCDS31220.1, CCDS60551.1, CCDS60552.1, CCDS60553.1, CCDS73148.1	10q22.3	2014-04-24			ENSG00000166321	ENSG00000166321		"Nudix motif containing"	18827	protein-coding gene	gene with protein product		609233				15164054	Standard	NM_001283019		Approved	DKFZp586P2219	uc001jtj.3	Q86X67	OTTHUMG00000018453	ENST00000357321.4:c.102G>T	chr10.hg19:g.74879794G>T	ENSP00000349874:p.Lys34Asn			Missense_Mutation	SNP	ENST00000357321.4	hg19	CCDS31220.1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.736917	0.69304	.	.	ENSG00000166321	ENST00000357321;ENST00000349051;ENST00000372997	T;T;T	0.58797	1.36;0.36;0.31	5.18	-2.34	0.06704	.	0.000000	0.85682	D	0.000000	T	0.60932	0.2307	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.992;0.993	T	0.59862	-0.7374	10	0.72032	D	0.01	-2.5729	12.2089	0.54369	0.6313:0.0:0.3687:0.0	.	34;34;34	Q86X67-2;Q5SQM6;Q86X67	.;.;NUD13_HUMAN	N	34	ENSP00000349874:K34N;ENSP00000335326:K34N;ENSP00000362088:K34N	ENSP00000335326:K34N	K	+	3	2	NUDT13	74549800	0.999000	0.42202	0.977000	0.42913	0.998000	0.95712	0.456000	0.21859	-0.547000	0.06207	0.655000	0.94253	AAG		0.403	NUDT13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048614.1	NM_015901		T	74879794	G	T	74879794	3	4	672	1	0	0	0	0	1	0	0	0	10731	991	35	4	108	4	NUDT13	10	74879794	Missense_Mutation	SNP	G	TCGA-HE-A5NF-01A-11D-A26P-10	57938649	74879794	60654953	35	36930											
LZTS2	84445	hgsc.bcm.edu	37	10	102763858	102763858	+	Missense_Mutation	SNP	G	G	C			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr10:102763858G>C	ENST00000370220.1	+	2	4066	c.1003G>C	c.(1003-1005)Gac>Cac	p.D335H	LZTS2_ENST00000370223.3_Missense_Mutation_p.D335H					leucine zipper, putative tumor suppressor 2											breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		AAAGCTCCGAGACCGGGAGGC	0.637																																					Esophageal Squamous(8;38 437 13604 19902 37640)											0													43	47	46					10																	102763858		2202	4297	6499	SO:0001583	missense	84445			AB058716	CCDS7507.1	10q24	2004-03-18			ENSG00000107816	ENSG00000107816			29381	protein-coding gene	gene with protein product		610454				11347906, 11709705	Standard	NM_032429		Approved	KIAA1813, LAPSER1	uc001ksj.3	Q9BRK4	OTTHUMG00000018914	ENST00000370220.1:c.1003G>C	chr10.hg19:g.102763858G>C	ENSP00000359240:p.Asp335His			Missense_Mutation	SNP	ENST00000370220.1	hg19	CCDS7507.1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.123472	0.56613	.	.	ENSG00000107816	ENST00000370223;ENST00000315797;ENST00000370220	T;T	0.41065	1.01;1.01	5.12	4.19	0.49359	.	0.157325	0.56097	D	0.000028	T	0.42494	0.1205	L	0.39898	1.24	0.43222	D	0.995102	P	0.40398	0.716	P	0.45946	0.498	T	0.20405	-1.0276	9	.	.	.	-23.6803	15.3201	0.74115	0.0:0.1408:0.8592:0.0	.	335	Q9BRK4	LZTS2_HUMAN	H	335	ENSP00000359243:D335H;ENSP00000359240:D335H	.	D	+	1	0	LZTS2	102753848	1.000000	0.71417	0.732000	0.30844	0.655000	0.38815	7.542000	0.82095	1.243000	0.43853	0.561000	0.74099	GAC		0.637	LZTS2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049872.1	XM_046743		C	102763858	G	C	102763858	3	2	672	1	0	0	0	0	1	0	0	0	9141	942	33	4	1009	4	LZTS2	10	102763858	Missense_Mutation	SNP	G	TCGA-HE-A5NF-01A-11D-A26P-10	27884064	102763858	32770889	36	36931											
TIAL1	7073	hgsc.bcm.edu	37	10	121338280	121338280	+	Missense_Mutation	SNP	A	A	C			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr10:121338280A>C	ENST00000436547.2	-	7	558	c.514T>G	c.(514-516)Tgg>Ggg	p.W172G	TIAL1_ENST00000369092.4_Missense_Mutation_p.W49G|TIAL1_ENST00000463089.2_5'Flank|TIAL1_ENST00000369093.2_Missense_Mutation_p.W189G	NM_003252.3	NP_003243.1	Q01085	TIAR_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein-like 1	172	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				apoptotic process (GO:0006915)|defense response (GO:0006952)|germ cell development (GO:0007281)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell division (GO:0017145)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	13		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)		CGAGTGGCCCAATTGGTTCGG	0.398																																																0													160	141	147					10																	121338280		2203	4300	6503	SO:0001583	missense	7073			AL833106	CCDS7613.1, CCDS31295.1	10q	2013-02-12	2001-11-28		ENSG00000151923	ENSG00000151923		"RNA binding motif (RRM) containing"	11804	protein-coding gene	gene with protein product		603413	"TIA1 cytotoxic granule-associated RNA-binding protein-like 1"			1326761	Standard	XM_005270108		Approved	TIAR	uc001lej.1	Q01085	OTTHUMG00000019156	ENST00000436547.2:c.514T>G	chr10.hg19:g.121338280A>C	ENSP00000394902:p.Trp172Gly		A8K3T0|A8K4L9	Missense_Mutation	SNP	ENST00000436547.2	hg19	CCDS7613.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.385753	0.82792	.	.	ENSG00000151923	ENST00000369093;ENST00000369092;ENST00000436547	T;T;T	0.75367	3.33;-0.93;-0.93	5.61	5.61	0.85477	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	D	0.85008	0.5599	M	0.65975	2.015	0.80722	D	1	D;D;D;D	0.89917	0.993;1.0;1.0;0.999	D;D;D;D	0.91635	0.968;0.999;0.994;0.966	D	0.86674	0.1912	10	0.87932	D	0	-1.9553	15.8113	0.78568	1.0:0.0:0.0:0.0	.	49;49;189;172	B4DHS3;Q49AS9;A8K4L9;Q01085	.;.;.;TIAR_HUMAN	G	189;49;172	ENSP00000358089:W189G;ENSP00000358088:W49G;ENSP00000394902:W172G	ENSP00000358088:W49G	W	-	1	0	TIAL1	121328270	1.000000	0.71417	0.993000	0.49108	0.863000	0.49368	9.125000	0.94402	2.137000	0.66172	0.482000	0.46254	TGG		0.398	TIAL1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050672.2	NM_022333, NM_003252		C	121338280	A	C	121338280	3	2	672	1	0	0	0	0	1	0	0	0	15894	130	5	5	637	5	TIAL1	10	121338280	Missense_Mutation	SNP	A	TCGA-HE-A5NF-01A-11D-A26P-10	18574422	121338280	14196467	37	36932											
WDR11	55717	hgsc.bcm.edu	37	10	122664157	122664157	+	Splice_Site	SNP	G	G	A			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr10:122664157G>A	ENST00000263461.6	+	25	3273		c.e25-1		WDR11_ENST00000604509.1_Intron	NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11						cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						TCTCTTACTAGACAGACAGAG	0.358																																																0													93	89	90					10																	122664157		2203	4300	6503	SO:0001630	splice_region_variant	55717			AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"WD repeat domain containing"	13831	protein-coding gene	gene with protein product		606417	"bromodomain and WD repeat domain containing 2"	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.3028-1G>A	chr10.hg19:g.122664157G>A			A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Splice_Site	SNP	ENST00000263461.6	hg19	CCDS7619.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.566439	0.86439	.	.	ENSG00000120008	ENST00000263461	.	.	.	5.97	5.97	0.96955	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.4387	0.99107	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WDR11	122654147	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	9.434000	0.97515	2.836000	0.97738	0.655000	0.94253	.		0.358	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2		Intron	A	122664157	G	A	122664157	5	1	672	1	0	0	0	0	0	0	1	0	17278	956	33	2	3125	2	WDR11	10	122664157	Splice_Site	SNP	G	TCGA-HE-A5NF-01A-11D-A26P-10	1325877	122664157	12870590	38	36933											
C11orf40	143501	hgsc.bcm.edu	37	11	4592781	4592781	+	Missense_Mutation	SNP	G	G	C	rs573632085	byFrequency	TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr11:4592781G>C	ENST00000307616.1	-	4	525	c.526C>G	c.(526-528)Cgc>Ggc	p.R176G		NM_144663.1	NP_653264.1	Q8WZ69	CK040_HUMAN	chromosome 11 open reading frame 40	176										large_intestine(3)|lung(1)|ovary(2)|stomach(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;4.28e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		taatcagtgcggtccaattca	0.433																																																0													81	73	76					11																	4592781		2201	4298	6499	SO:0001583	missense	143501				CCDS31354.1	11p15.5	2005-10-03			ENSG00000171987	ENSG00000171987			23986	protein-coding gene	gene with protein product							Standard	NM_144663		Approved	NOV1	uc010qyg.2	Q8WZ69	OTTHUMG00000165345	ENST00000307616.1:c.526C>G	chr11.hg19:g.4592781G>C	ENSP00000302918:p.Arg176Gly			Missense_Mutation	SNP	ENST00000307616.1	hg19	CCDS31354.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.039801	0.00402	.	.	ENSG00000171987	ENST00000307616	T	0.55930	0.49	0.832	-1.66	0.08265	.	.	.	.	.	T	0.26774	0.0655	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.08743	-1.0707	9	0.87932	D	0	.	3.0485	0.06161	0.2412:0.0:0.4837:0.275	.	176	Q8WZ69	CK040_HUMAN	G	176	ENSP00000302918:R176G	ENSP00000302918:R176G	R	-	1	0	C11orf40	4549357	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.923000	0.04000	-1.894000	0.01105	-1.561000	0.00884	CGC		0.433	C11orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383529.1	NM_144663		C	4592781	G	C	4592781	3	2	672	1	0	0	0	0	1	0	0	0	1641	1116	39	4	130	4	C11orf40	11	4592781	Missense_Mutation	SNP	G	TCGA-HE-A5NF-01A-11D-A26P-10		4592781	130413735	39	36934											
DCHS1	8642	hgsc.bcm.edu	37	11	6646473	6646473	+	Missense_Mutation	SNP	C	C	G			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr11:6646473C>G	ENST00000299441.3	-	19	7513	c.7102G>C	c.(7102-7104)Gat>Cat	p.D2368H	RP11-732A19.5_ENST00000526456.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2368	Cadherin 22. {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)		TCATTGACATCCTCCACAAGC	0.587																																																0													101	92	95					11																	6646473		2201	4296	6497	SO:0001583	missense	8642			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"Cadherins / Cadherin-related"	13681	protein-coding gene	gene with protein product	"cadherin-related family member 6"	603057	"protocadherin 16", "dachsous 1 (Drosophila)"	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.7102G>C	chr11.hg19:g.6646473C>G	ENSP00000299441:p.Asp2368His		O15098	Missense_Mutation	SNP	ENST00000299441.3	hg19	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	c	22.9	4.351321	0.82132	.	.	ENSG00000166341	ENST00000299441	T	0.76186	-1.0	4.94	4.94	0.65067	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.43747	D	0.000525	D	0.91202	0.7228	H	0.97682	4.055	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94164	0.7417	10	0.87932	D	0	.	16.9335	0.86197	0.0:1.0:0.0:0.0	.	2368	Q96JQ0	PCD16_HUMAN	H	2368	ENSP00000299441:D2368H	ENSP00000299441:D2368H	D	-	1	0	DCHS1	6603049	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.632000	0.83247	2.560000	0.86352	0.651000	0.88453	GAT		0.587	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		G	6646473	C	G	6646473	3	3	672	1	0	0	0	0	1	0	0	0	4289	855	30	4	2806	4	DCHS1	11	6646473	Missense_Mutation	SNP	C	TCGA-HE-A5NF-01A-11D-A26P-10	2053692	6646473	128360043	40	36935											
LRP4	4038	hgsc.bcm.edu	37	11	46898795	46898795	+	Missense_Mutation	SNP	T	T	C			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr11:46898795T>C	ENST00000378623.1	-	23	3474	c.3232A>G	c.(3232-3234)Att>Gtt	p.I1078V	LRP4-AS1_ENST00000502049.2_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1078					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)		TTCATGGTAATGTTGATTGGT	0.507																																																0													250	187	208					11																	46898795		2201	4299	6500	SO:0001583	missense	4038			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.3232A>G	chr11.hg19:g.46898795T>C	ENSP00000367888:p.Ile1078Val		B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	hg19	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	T	12.62	1.991485	0.35131	.	.	ENSG00000134569	ENST00000378623	D	0.90955	-2.76	6.17	-1.45	0.08828	Six-bladed beta-propeller, TolB-like (1);	0.729507	0.14357	N	0.324711	T	0.70850	0.3271	N	0.00926	-1.1	0.20926	N	0.999826	B	0.02656	0.0	B	0.01281	0.0	T	0.58440	-0.7636	10	0.14656	T	0.56	.	13.3945	0.60843	0.0:0.5812:0.0:0.4188	.	1078	O75096	LRP4_HUMAN	V	1078	ENSP00000367888:I1078V	ENSP00000367888:I1078V	I	-	1	0	LRP4	46855371	1.000000	0.71417	0.959000	0.39883	0.998000	0.95712	0.814000	0.27239	-0.251000	0.09542	0.533000	0.62120	ATT		0.507	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		C	46898795	T	C	46898795	3	2	672	1	0	0	0	0	1	0	0	0	8961	1464	51	3	2549	3	LRP4	11	46898795	Missense_Mutation	SNP	T	TCGA-HE-A5NF-01A-11D-A26P-10	40252322	46898795	88107721	41	36936											
AMOTL1	154810	hgsc.bcm.edu	37	11	94533391	94533391	+	Missense_Mutation	SNP	G	G	T			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr11:94533391G>T	ENST00000433060.2	+	3	1176	c.1035G>T	c.(1033-1035)atG>atT	p.M345I	AMOTL1_ENST00000317837.9_Missense_Mutation_p.M345I|AMOTL1_ENST00000317829.8_Missense_Mutation_p.M295I	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	345					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)				TCCACGAGATGGTCAAGCCCT	0.562																																																0													115	116	116					11																	94533391		2016	4172	6188	SO:0001583	missense	154810			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.1035G>T	chr11.hg19:g.94533391G>T	ENSP00000387739:p.Met345Ile		Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Missense_Mutation	SNP	ENST00000433060.2	hg19	CCDS44712.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.471025	0.43942	.	.	ENSG00000166025	ENST00000317829;ENST00000542840;ENST00000317837;ENST00000433060	T;T;T	0.13307	2.6;2.6;2.6	5.13	4.15	0.48705	.	0.155049	0.44688	D	0.000423	T	0.10380	0.0254	L	0.40543	1.245	0.30008	N	0.815444	B;B	0.16802	0.013;0.019	B;B	0.13407	0.009;0.006	T	0.06127	-1.0844	9	.	.	.	-21.0972	7.6609	0.28402	0.0937:0.2865:0.6198:0.0	.	295;345	Q8IY63-2;Q8IY63	.;AMOL1_HUMAN	I	295;351;345;345	ENSP00000320968:M295I;ENSP00000323474:M345I;ENSP00000387739:M345I	.	M	+	3	0	AMOTL1	94173039	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	0.997000	0.29731	2.395000	0.81488	0.555000	0.69702	ATG		0.562	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396474.3	NM_130847		T	94533391	G	T	94533391	3	4	672	1	0	0	0	0	1	0	0	0	583	1348	47	4	1045	4	AMOTL1	11	94533391	Missense_Mutation	SNP	G	TCGA-HE-A5NF-01A-11D-A26P-10	47634596	94533391	40473125	42	36937											
ZW10	9183	hgsc.bcm.edu	37	11	113619115	113619115	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr11:113619115delT	ENST00000200135.3	-	8	1097	c.953delA	c.(952-954)aatfs	p.N318fs		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	318					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)		TGTTTTTTCATTTTCCAGGTC	0.373																																																0													94	87	90					11																	113619115		2201	4296	6497	SO:0001589	frameshift_variant	9183			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.953delA	chr11.hg19:g.113619115delT	ENSP00000200135:p.Asn318fs		A1A528	Frame_Shift_Del	DEL	ENST00000200135.3	hg19	CCDS8363.1																																																																																				0.373	ZW10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398700.1	NM_004724		-	113619115	T	-	113619115	7	5	672	1	0	1	0	1	0	0	0	0	18252	1493	52	0	1422	0	ZW10	11	113619115	Frame_Shift_Del	DEL	T	TCGA-HE-A5NF-01A-11D-A26P-10	19085724	113619115	21387401	43	36938											
TMBIM4	51643	hgsc.bcm.edu	37	12	66546147	66546147	+	Silent	SNP	T	T	C			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr12:66546147T>C	ENST00000358230.3	-	3	336	c.216A>G	c.(214-216)ttA>ttG	p.L72L	TMBIM4_ENST00000544599.1_5'UTR|TMBIM4_ENST00000556010.1_Silent_p.L72L|TMBIM4_ENST00000286424.7_Silent_p.L119L|TMBIM4_ENST00000398033.4_Silent_p.L72L|TMBIM4_ENST00000539652.1_Silent_p.L72L|TMBIM4_ENST00000542724.1_Silent_p.L41L	NM_016056.2	NP_057140.2	Q9HC24	LFG4_HUMAN	transmembrane BAX inhibitor motif containing 4	72					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)		ACAGCAAAATTAAGGCAGGAC	0.303																																																0													79	75	76					12																	66546147		1821	4077	5898	SO:0001819	synonymous_variant	51643			AF113127	CCDS41805.1, CCDS61187.1, CCDS73493.1	12q14.3	2014-05-09			ENSG00000155957	ENSG00000155957			24257	protein-coding gene	gene with protein product						11042152, 10810093	Standard	NM_001282609		Approved	CGI-119, S1R, ZPRO, LFG4, GAAP	uc001stc.3	Q9HC24	OTTHUMG00000168973	ENST00000358230.3:c.216A>G	chr12.hg19:g.66546147T>C			Q542Z6|Q9UHY5|Q9Y3C2	Silent	SNP	ENST00000358230.3	hg19	CCDS41805.1																																																																																				0.303	TMBIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401832.2	NM_016056		C	66546147	T	C	66546147	2	2	672	1	0	0	0	0	0	0	0	1	15987	1751	61	3		3	TMBIM4	12	66546147	Silent	SNP	T	TCGA-HE-A5NF-01A-11D-A26P-10		66546147	67305748	44	36939											
ZNF140	7699	hgsc.bcm.edu	37	12	133683062	133683062	+	Missense_Mutation	SNP	T	T	C			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr12:133683062T>C	ENST00000355557.2	+	5	2482	c.1199T>C	c.(1198-1200)cTc>cCc	p.L400P	ZNF140_ENST00000440550.2_3'UTR|ZNF140_ENST00000544426.1_Missense_Mutation_p.L297P	NM_003440.2	NP_003431.2	P52738	ZN140_HUMAN	zinc finger protein 140	400					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)|large_intestine(4)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.114)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		AGCTTTTCCCTCATTCTACAT	0.448																																																0													90	91	91					12																	133683062		2203	4300	6503	SO:0001583	missense	7699			U09368	CCDS9282.1, CCDS73550.1	12q24.33	2013-01-08	2006-06-13		ENSG00000196387	ENSG00000196387		"Zinc fingers, C2H2-type", "-"	12925	protein-coding gene	gene with protein product		604082	"zinc finger protein 140 (clone pHZ-39)"			7557990	Standard	XR_245353		Approved	pHZ-39	uc001ulo.3	P52738	OTTHUMG00000167942	ENST00000355557.2:c.1199T>C	chr12.hg19:g.133683062T>C	ENSP00000347755:p.Leu400Pro		D3DXJ3|Q05CP6|Q8IV75	Missense_Mutation	SNP	ENST00000355557.2	hg19	CCDS9282.1	.	.	.	.	.	.	.	.	.	.	T	17.08	3.296703	0.60086	.	.	ENSG00000196387	ENST00000355557;ENST00000544426;ENST00000433577	T;T	0.14266	2.52;2.52	3.85	3.85	0.44370	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.31859	N	0.006952	T	0.39627	0.1085	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.36672	-0.9738	10	0.87932	D	0	.	7.0829	0.25241	0.0:0.1065:0.0:0.8935	.	400	P52738	ZN140_HUMAN	P	400;297;191	ENSP00000347755:L400P;ENSP00000445411:L297P	ENSP00000347755:L400P	L	+	2	0	ZNF140	132193135	0.996000	0.38824	0.998000	0.56505	0.958000	0.62258	5.435000	0.66532	1.736000	0.51660	0.460000	0.39030	CTC		0.448	ZNF140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397169.1	NM_003440		C	133683062	T	C	133683062	3	2	672	1	0	0	0	0	1	0	0	0	17734	1551	54	3	1213	3	ZNF140	12	133683062	Missense_Mutation	SNP	T	TCGA-HE-A5NF-01A-11D-A26P-10	67136915	133683062	168833	45	36940											
KCTD12	115207	hgsc.bcm.edu	37	13	77460122	77460122	+	Silent	SNP	C	C	G	rs371800969		TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr13:77460122C>G	ENST00000377474.2	-	1	403	c.162G>C	c.(160-162)tcG>tcC	p.S54S	AC000403.1_ENST00000579275.1_RNA|KCTD12_ENST00000317765.2_Silent_p.S54S	NM_138444.3	NP_612453.1	Q96CX2	KCD12_HUMAN	potassium channel tetramerization domain containing 12	54					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4		Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.0499)		AGTCGGGCACCGACACCACCG	0.692																																																0								C		0,4356		0,0,2178	16	15	15		162	0.4	1	13		15	2,8550		0,2,4274	no	coding-synonymous	KCTD12	NM_138444.3		0,2,6452	GG,GC,CC		0.0234,0.0,0.0155		54/326	77460122	2,12906	2178	4276	6454	SO:0001819	synonymous_variant	115207			AF359381	CCDS9455.1	13q21	2013-06-20	2013-06-20	2003-11-26	ENSG00000178695	ENSG00000178695			14678	protein-coding gene	gene with protein product	"predominantly fetal expressed T1 domain"	610521	"chromosome 13 open reading frame 2", "potassium channel tetramerisation domain containing 12"	C13orf2		15357420	Standard	NM_138444		Approved	KIAA1778, PFET1	uc010aeu.1	Q96CX2	OTTHUMG00000017096	ENST00000377474.2:c.162G>C	chr13.hg19:g.77460122C>G				Silent	SNP	ENST00000377474.2	hg19	CCDS9455.1																																																																																				0.692	KCTD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045309.2	NM_138444		G	77460122	C	G	77460122	2	3	672	1	0	0	0	0	0	0	0	1	8101	639	23	4		4	KCTD12	13	77460122	Silent	SNP	C	TCGA-HE-A5NF-01A-11D-A26P-10		77460122	37709756	46	36941											
TEP1	7011	hgsc.bcm.edu	37	14	20845648	20845648	+	Missense_Mutation	SNP	G	G	T			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr14:20845648G>T	ENST00000262715.5	-	41	5919	c.5879C>A	c.(5878-5880)tCc>tAc	p.S1960Y	TEP1_ENST00000545983.1_Missense_Mutation_p.S298Y|TEP1_ENST00000556935.1_Missense_Mutation_p.S1852Y	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1960					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)		AGCCCCCTGGGAACCTAGAGA	0.582																																																0													53	54	54					14																	20845648		2203	4300	6503	SO:0001583	missense	7011				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"WD repeat domain containing"	11726	protein-coding gene	gene with protein product	"TROVE domain family, member 1"	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.5879C>A	chr14.hg19:g.20845648G>T	ENSP00000262715:p.Ser1960Tyr		A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	hg19	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.164956	0.78339	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935;ENST00000545983	T;T;T	0.71461	0.73;-0.57;1.23	5.33	5.33	0.75918	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.606102	0.17469	N	0.173149	T	0.80639	0.4661	M	0.71036	2.16	0.38057	D	0.935966	D;D;D;D	0.59767	0.976;0.983;0.986;0.971	P;P;P;P	0.57152	0.556;0.804;0.814;0.641	D	0.83486	0.0067	10	0.59425	D	0.04	-4.4509	15.9418	0.79758	0.0:0.0:1.0:0.0	.	298;1852;1303;1960	B4E0B6;G3V5X7;G3V2A4;Q99973	.;.;.;TEP1_HUMAN	Y	1960;1960;1852;298	ENSP00000262715:S1960Y;ENSP00000452574:S1852Y;ENSP00000438849:S298Y	ENSP00000262715:S1960Y	S	-	2	0	TEP1	19915488	0.983000	0.35010	0.894000	0.35097	0.940000	0.58332	4.982000	0.63825	2.502000	0.84385	0.563000	0.77884	TCC		0.582	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		T	20845648	G	T	20845648	3	4	672	1	0	0	0	0	1	0	0	0	15764	1174	41	4	2064	4	TEP1	14	20845648	Missense_Mutation	SNP	G	TCGA-HE-A5NF-01A-11D-A26P-10		20845648	86503892	47	36942											
CDH24	64403	hgsc.bcm.edu	37	14	23524349	23524349	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr14:23524349T>A	ENST00000267383.5	-	2	507	c.415A>T	c.(415-417)Aaa>Taa	p.K139*	CDH24_ENST00000554034.1_Nonsense_Mutation_p.K139*|CDH24_ENST00000397359.3_Nonsense_Mutation_p.K139*|CDH24_ENST00000487137.2_Nonsense_Mutation_p.K139*			Q86UP0	CAD24_HUMAN	cadherin 24, type 2	139	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)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		TCTTGCACTTTGATGATGAAC	0.587											OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													86	90	88					14																	23524349		2203	4300	6503	SO:0001587	stop_gained	64403			AL137477	CCDS9585.1, CCDS9586.1	14q11.2	2010-08-20	2009-11-20		ENSG00000139880	ENSG00000139880		"Cadherins / Major cadherins"	14265	protein-coding gene	gene with protein product			"cadherin-like 24"			12734196	Standard	NM_022478		Approved	CDH11L	uc001wil.3	Q86UP0	OTTHUMG00000028715	ENST00000267383.5:c.415A>T	chr14.hg19:g.23524349T>A	ENSP00000267383:p.Lys139*	764	D3DS44|Q86UP1|Q9NT84	Nonsense_Mutation	SNP	ENST00000267383.5	hg19	CCDS9585.1	.	.	.	.	.	.	.	.	.	.	T	36	5.772834	0.96922	.	.	ENSG00000139880	ENST00000397359;ENST00000487137;ENST00000422751;ENST00000554034;ENST00000267383	.	.	.	3.72	3.72	0.42706	.	0.061985	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.8066	0.52158	0.0:0.0:0.0:1.0	.	.	.	.	X	139	.	ENSP00000267383:K139X	K	-	1	0	CDH24	22594189	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.825000	0.86693	1.689000	0.51079	0.459000	0.35465	AAA		0.587	CDH24-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257241.2	NM_022478		A	23524349	T	A	23524349	4	1	672	1	0	0	0	0	0	1	0	0	3111	1821	63	5	2088	5	CDH24	14	23524349	Nonsense_Mutation	SNP	T	TCGA-HE-A5NF-01A-11D-A26P-10	2678701	23524349	83825191	48	36943											
NYNRIN	57523	hgsc.bcm.edu	37	14	24885037	24885037	+	Missense_Mutation	SNP	G	G	T			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr14:24885037G>T	ENST00000382554.3	+	9	4400	c.4082G>T	c.(4081-4083)gGc>gTc	p.G1361V		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1361					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						GTGGCCTGCGGCCTGGAGCGC	0.627																																																0													68	73	71					14																	24885037		1961	4143	6104	SO:0001583	missense	57523			AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"Cousin of GIN1"		"KIAA1305"	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.4082G>T	chr14.hg19:g.24885037G>T	ENSP00000371994:p.Gly1361Val		Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	hg19	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.597704	0.46318	.	.	ENSG00000205978	ENST00000382554	T	0.10668	2.85	4.93	4.02	0.46733	Ribonuclease H-like (1);	.	.	.	.	T	0.12603	0.0306	N	0.24115	0.695	0.49582	D	0.999804	P	0.50066	0.931	P	0.50860	0.652	T	0.03555	-1.1025	9	0.87932	D	0	.	11.5825	0.50900	0.0:0.3481:0.6519:0.0	.	1361	Q9P2P1	NYNRI_HUMAN	V	1361	ENSP00000371994:G1361V	ENSP00000371994:G1361V	G	+	2	0	NYNRIN	23954877	0.997000	0.39634	0.949000	0.38748	0.982000	0.71751	2.871000	0.48459	1.254000	0.44035	0.655000	0.94253	GGC		0.627	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			T	24885037	G	T	24885037	3	4	672	1	0	0	0	0	1	0	0	0	10798	1203	42	4	4112	4	NYNRIN	14	24885037	Missense_Mutation	SNP	G	TCGA-HE-A5NF-01A-11D-A26P-10	1360688	24885037	82464503	49	36944											
MLH3	27030	hgsc.bcm.edu	37	14	75516201	75516205	+	Frame_Shift_Del	DEL	TGAAC	TGAAC	-			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10	TGAAC	TGAAC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr14:75516201_75516205delTGAAC	ENST00000556740.1	-	1	189_193	c.154_158delGTTCA	c.(154-159)gttcaafs	p.VQ52fs	MLH3_ENST00000556257.1_Frame_Shift_Del_p.VQ52fs|MLH3_ENST00000238662.7_Frame_Shift_Del_p.VQ52fs|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000355774.2_Frame_Shift_Del_p.VQ52fs|MLH3_ENST00000555671.1_5'Flank|MLH3_ENST00000544985.1_5'Flank			Q9UHC1	MLH3_HUMAN	mutL homolog 3	52					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		GTCTATCACTTGAACTTGGAAGGTT	0.444								Mismatch excision repair (MMR)																																								0																																										SO:0001589	frameshift_variant	27030			AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"mutL (E. coli) homolog 3", "mutL homolog 3 (E. coli)"			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.154_158delGTTCA	chr14.hg19:g.75516201_75516205delTGAAC	ENSP00000452316:p.Val52fs		P49751|Q56DK9|Q9P292|Q9UHC0	Frame_Shift_Del	DEL	ENST00000556740.1	hg19	CCDS32123.1																																																																																				0.444	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1	NM_014381		-	75516205	TGAAC	-	75516201	7	5	672	1	0	1	0	1	0	0	0	0	9620	1812	63	0	4251	0	MLH3	14	75516201	Frame_Shift_Del	DEL	TGAAC	TCGA-HE-A5NF-01A-11D-A26P-10	50631164	75516201	31833339	50	36945											
ATXN3	4287	hgsc.bcm.edu	37	14	92549507	92549507	+	Missense_Mutation	SNP	G	G	C			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr14:92549507G>C	ENST00000532032.1	-	7	580	c.571C>G	c.(571-573)Ctt>Gtt	p.L191V	ATXN3_ENST00000340660.6_Missense_Mutation_p.L136V|ATXN3_ENST00000503767.1_Missense_Mutation_p.L176V|ATXN3_ENST00000502250.1_Missense_Mutation_p.L12V|ATXN3_ENST00000429774.2_Missense_Mutation_p.L176V|ATXN3_ENST00000393287.5_Missense_Mutation_p.L191V|ATXN3_ENST00000545170.1_Missense_Mutation_p.L191V|ATXN3_ENST00000554491.1_5'UTR			P54252	ATX3_HUMAN	ataxin 3	191					actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|cellular response to misfolded protein (GO:0071218)|intermediate filament cytoskeleton organization (GO:0045104)|microtubule cytoskeleton organization (GO:0000226)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|monoubiquitinated protein deubiquitination (GO:0035520)|nervous system development (GO:0007399)|nucleotide-excision repair (GO:0006289)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell-substrate adhesion (GO:0010810)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|identical protein binding (GO:0042802)|Lys48-specific deubiquitinase activity (GO:1990380)|Lys63-specific deubiquitinase activity (GO:0061578)|omega peptidase activity (GO:0008242)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	12		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)		TCTCCAATAAGTTTTGGTCGA	0.368																																					Esophageal Squamous(190;752 2094 29897 44875 49530)											0													146	138	141					14																	92549507		2203	4300	6503	SO:0001583	missense	4287			U64820	CCDS9900.1, CCDS32143.1, CCDS45154.1, CCDS53908.1, CCDS73680.1	14q21	2014-09-17	2004-08-12	2004-08-13	ENSG00000066427	ENSG00000066427		"Ataxins"	7106	protein-coding gene	gene with protein product		607047	"Machado-Joseph disease (spinocerebellar ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant, ataxin 3)"	SCA3, MJD		8358439	Standard	NM_004993		Approved	ATX3, JOS	uc001yac.4	P54252	OTTHUMG00000162212	ENST00000532032.1:c.571C>G	chr14.hg19:g.92549507G>C	ENSP00000437157:p.Leu191Val		A7LFZ5|D6RDL9|E9PB63|O15284|O15285|O15286|Q8N189|Q96TC3|Q96TC4|Q9H3N0	Missense_Mutation	SNP	ENST00000532032.1	hg19		.	.	.	.	.	.	.	.	.	.	G	25.0	4.587229	0.86851	.	.	ENSG00000066427	ENST00000545278;ENST00000539555;ENST00000537884;ENST00000545170;ENST00000447800;ENST00000359819;ENST00000393289;ENST00000429774;ENST00000539454;ENST00000393287;ENST00000502250;ENST00000503767;ENST00000340660;ENST00000532032;ENST00000555381;ENST00000557311;ENST00000554592;ENST00000554672;ENST00000553491;ENST00000556220;ENST00000506466	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.55760	2.13;2.17;2.16;0.72;2.16;1.82;1.81;1.42;0.5;1.85;1.41;1.39;1.38;1.45	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.71592	0.3358	M	0.65498	2.005	0.58432	D	0.999997	D;D;D;D;D	0.71674	0.974;0.993;0.97;0.998;0.996	P;P;P;D;D	0.75484	0.829;0.901;0.804;0.986;0.966	T	0.71866	-0.4463	10	0.46703	T	0.11	.	18.7593	0.91843	0.0:0.0:1.0:0.0	.	191;176;191;136;191	P54252;E9PB63;F5H096;P54252-3;P54252-2	ATX3_HUMAN;.;.;.;.	V	191;191;191;191;191;191;191;176;190;191;12;176;136;191;121;12;190;93;140;85;125	ENSP00000445618:L191V;ENSP00000389376:L176V;ENSP00000376965:L191V;ENSP00000425322:L12V;ENSP00000426697:L176V;ENSP00000339110:L136V;ENSP00000437157:L191V;ENSP00000451001:L121V;ENSP00000450642:L12V;ENSP00000451385:L190V;ENSP00000451417:L93V;ENSP00000451996:L140V;ENSP00000450641:L85V;ENSP00000435571:L125V	ENSP00000339110:L136V	L	-	1	0	ATXN3	91619260	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.235000	0.51328	2.450000	0.82876	0.478000	0.44815	CTT		0.368	ATXN3-015	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000388065.1	NM_004993		C	92549507	G	C	92549507	3	2	672	1	0	0	0	0	1	0	0	0	1213	1029	36	4	534	4	ATXN3	14	92549507	Missense_Mutation	SNP	G	TCGA-HE-A5NF-01A-11D-A26P-10	17033306	92549507	14800033	51	36946											
TLE3	7090	hgsc.bcm.edu	37	15	70368460	70368460	+	Missense_Mutation	SNP	T	T	A			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr15:70368460T>A	ENST00000558939.1	-	5	1649	c.272A>T	c.(271-273)cAg>cTg	p.Q91L	TLE3_ENST00000560939.1_Missense_Mutation_p.Q97L|TLE3_ENST00000442299.2_Missense_Mutation_p.Q91L|TLE3_ENST00000560589.1_Missense_Mutation_p.Q35L|TLE3_ENST00000557997.1_Missense_Mutation_p.Q91L|TLE3_ENST00000539550.1_Missense_Mutation_p.Q25L|TLE3_ENST00000557907.1_Missense_Mutation_p.Q91L|TLE3_ENST00000317509.8_Missense_Mutation_p.Q91L|TLE3_ENST00000559929.1_Missense_Mutation_p.Q91L|TLE3_ENST00000440567.3_Missense_Mutation_p.Q84L|TLE3_ENST00000451782.2_Missense_Mutation_p.Q91L|TLE3_ENST00000559048.1_Missense_Mutation_p.Q97L|TLE3_ENST00000558379.1_Missense_Mutation_p.Q91L|TLE3_ENST00000559191.1_Intron|TLE3_ENST00000558201.1_Missense_Mutation_p.Q97L	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	91	Gln-rich.				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						AGGCATGATCTGTGCTAAAAT	0.438																																																0													170	166	167					15																	70368460		1956	4138	6094	SO:0001583	missense	7090			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.272A>T	chr15.hg19:g.70368460T>A	ENSP00000452871:p.Gln91Leu		B4DPT0|E9PD64|F8W964|Q6PI57|Q8IVV6|Q8WVR2|Q9HCM5	Missense_Mutation	SNP	ENST00000558939.1	hg19	CCDS45293.1	.	.	.	.	.	.	.	.	.	.	T	33	5.250170	0.95305	.	.	ENSG00000140332	ENST00000442299;ENST00000451782;ENST00000317509;ENST00000440567;ENST00000539550	T;T;T;T;T	0.63913	0.26;0.29;0.34;0.26;-0.07	5.85	5.85	0.93711	Groucho/TLE, N-terminal Q-rich domain (1);	0.000000	0.85682	D	0.000000	T	0.81635	0.4864	M	0.93854	3.465	0.80722	D	1	P;P;D;P;P;P;P;P	0.54397	0.851;0.927;0.966;0.877;0.748;0.877;0.62;0.911	B;P;P;P;P;P;P;P	0.56216	0.419;0.794;0.783;0.72;0.575;0.72;0.46;0.786	D	0.86775	0.1975	10	0.87932	D	0	-17.3549	16.2303	0.82332	0.0:0.0:0.0:1.0	.	84;91;91;91;91;91;97;25	F8W964;E9PD64;Q04726-3;Q6PI57;Q04726-2;Q04726;Q04726-4;F5H7D6	.;.;.;.;.;TLE3_HUMAN;.;.	L	91;91;91;84;25	ENSP00000390007:Q91L;ENSP00000394717:Q91L;ENSP00000319233:Q91L;ENSP00000415057:Q84L;ENSP00000442594:Q25L	ENSP00000319233:Q91L	Q	-	2	0	TLE3	68155514	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.924000	0.87555	2.233000	0.73108	0.533000	0.62120	CAG		0.438	TLE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416913.1	NM_005078		A	70368460	T	A	70368460	3	1	672	1	0	0	0	0	1	0	0	0	15945	1580	55	5	2110	5	TLE3	15	70368460	Missense_Mutation	SNP	T	TCGA-HE-A5NF-01A-11D-A26P-10		70368460	32162932	52	36947											
UACA	55075	hgsc.bcm.edu	37	15	70961458	70961458	+	Missense_Mutation	SNP	G	G	C			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr15:70961458G>C	ENST00000322954.6	-	16	1750	c.1565C>G	c.(1564-1566)gCc>gGc	p.A522G	UACA_ENST00000539319.1_Missense_Mutation_p.A413G|UACA_ENST00000379983.2_Missense_Mutation_p.A509G|UACA_ENST00000560441.1_Missense_Mutation_p.A507G	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	522					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						TTCTTTAAGGGCAAGAAAATG	0.378																																																0													226	204	211					15																	70961458		2199	4297	6496	SO:0001583	missense	55075			AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"Ankyrin repeat domain containing"	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.1565C>G	chr15.hg19:g.70961458G>C	ENSP00000314556:p.Ala522Gly		G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	ENST00000322954.6	hg19	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.171155	0.78452	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000395362;ENST00000539319	T;T;T	0.46451	0.87;0.89;1.33	5.68	5.68	0.88126	.	0.000000	0.56097	D	0.000034	T	0.67031	0.2850	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	0.91635	0.999;0.997;0.997;0.998	T	0.66060	-0.6017	10	0.48119	T	0.1	-10.6478	19.7842	0.96430	0.0:0.0:1.0:0.0	.	413;522;522;509	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	G	522;509;498;413	ENSP00000314556:A522G;ENSP00000369319:A509G;ENSP00000438667:A413G	ENSP00000314556:A522G	A	-	2	0	UACA	68748512	1.000000	0.71417	0.993000	0.49108	0.473000	0.32948	6.105000	0.71505	2.676000	0.91093	0.591000	0.81541	GCC		0.378	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2			C	70961458	G	C	70961458	3	2	672	1	0	0	0	0	1	0	0	0	16829	1203	42	4	2701	4	UACA	15	70961458	Missense_Mutation	SNP	G	TCGA-HE-A5NF-01A-11D-A26P-10	592998	70961458	31569934	53	36948											
CYP11A1	1583	hgsc.bcm.edu	37	15	74640247	74640247	+	Missense_Mutation	SNP	A	A	T			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr15:74640247A>T	ENST00000268053.6	-	2	573	c.419T>A	c.(418-420)cTg>cAg	p.L140Q	CYP11A1_ENST00000358632.4_5'UTR|CYP11A1_ENST00000419019.2_Intron|CYP11A1_ENST00000541301.1_Missense_Mutation_p.L140Q	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	140					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)	TCACTTCAACAGGACTCCTAT	0.622																																					Esophageal Squamous(87;818 1337 4093 9268 37314)											0													45	42	43					15																	74640247		2197	4296	6493	SO:0001583	missense	1583			AK056794	CCDS32291.1, CCDS45303.1	15q23-q24	2010-05-04	2003-01-14	2003-01-17	ENSG00000140459	ENSG00000140459	1.14.15.6	"Cytochrome P450s"	2590	protein-coding gene	gene with protein product	"cholesterol monooxygenase (side-chain-cleaving)"	118485	"cytochrome P450, subfamily XIA (cholesterol side chain cleavage)"	CYP11A			Standard	NM_000781		Approved	P450SCC	uc002axt.2	P05108	OTTHUMG00000150716	ENST00000268053.6:c.419T>A	chr15.hg19:g.74640247A>T	ENSP00000268053:p.Leu140Gln		A8K8D5|B3KPU8|G3XAD7|Q15081|Q16805|Q8N1A7	Missense_Mutation	SNP	ENST00000268053.6	hg19	CCDS32291.1	.	.	.	.	.	.	.	.	.	.	A	16.15	3.040820	0.55003	.	.	ENSG00000140459	ENST00000268053;ENST00000541301;ENST00000450547;ENST00000433240;ENST00000416978	T;T;T	0.71222	-0.55;-0.55;-0.55	4.46	4.46	0.54185	.	0.000000	0.64402	D	0.000001	T	0.81917	0.4924	M	0.71871	2.18	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.79108	0.929;0.992;0.929	T	0.83072	-0.0142	10	0.51188	T	0.08	-0.0287	13.4211	0.60998	1.0:0.0:0.0:0.0	.	140;140;140	E7EPP8;B4DTE5;P05108	.;.;CP11A_HUMAN	Q	140;140;52;140;140	ENSP00000268053:L140Q;ENSP00000439750:L140Q;ENSP00000388018:L140Q	ENSP00000268053:L140Q	L	-	2	0	CYP11A1	72427300	1.000000	0.71417	0.556000	0.28293	0.404000	0.30871	7.439000	0.80444	1.642000	0.50584	0.523000	0.50628	CTG		0.622	CYP11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319737.1			T	74640247	A	T	74640247	3	4	672	1	0	0	0	0	1	0	0	0	4146	188	7	5	1178	5	CYP11A1	15	74640247	Missense_Mutation	SNP	A	TCGA-HE-A5NF-01A-11D-A26P-10	3678789	74640247	27891145	54	36949											
E4F1	1877	hgsc.bcm.edu	37	16	2285002	2285002	+	Splice_Site	SNP	G	G	T			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr16:2285002G>T	ENST00000301727.4	+	12	1983	c.1935G>T	c.(1933-1935)gaG>gaT	p.E645D	DNASE1L2_ENST00000567494.1_5'Flank|DNASE1L2_ENST00000564065.1_5'Flank|RP11-304L19.12_ENST00000564055.1_lincRNA|E4F1_ENST00000564139.1_Intron|DNASE1L2_ENST00000382437.4_5'Flank|DNASE1L2_ENST00000320700.5_5'Flank|E4F1_ENST00000565090.1_Splice_Site_p.E468D	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	645					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						ATATCATCGAGGTGGGTGTGG	0.662																																																0													18	19	19					16																	2285002		2191	4296	6487	SO:0001630	splice_region_variant	1877			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.1935+1G>T	chr16.hg19:g.2285002G>T			A8K2R4|O00146	Missense_Mutation	SNP	ENST00000301727.4	hg19	CCDS32370.1	.	.	.	.	.	.	.	.	.	.	G	13.06	2.123776	0.37436	.	.	ENSG00000167967	ENST00000301727	T	0.36699	1.24	5.3	4.34	0.51931	.	0.101702	0.64402	D	0.000002	T	0.31420	0.0796	N	0.24115	0.695	0.80722	D	1	P	0.52842	0.956	P	0.47528	0.549	T	0.13522	-1.0506	10	0.87932	D	0	-29.9183	12.9793	0.58554	0.0806:0.0:0.9194:0.0	.	645	Q66K89	E4F1_HUMAN	D	645	ENSP00000301727:E645D	ENSP00000301727:E645D	E	+	3	2	E4F1	2225003	.	.	1.000000	0.80357	0.453000	0.32348	.	.	2.477000	0.83638	0.561000	0.74099	GAG		0.662	E4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435225.1	NM_004424	Missense_Mutation	T	2285002	G	T	2285002	5	4	672	1	0	0	0	0	0	0	1	0	4876	1014	35	4	1981	4	E4F1	16	2285002	Splice_Site	SNP	G	TCGA-HE-A5NF-01A-11D-A26P-10		2285002	88069751	55	36950											
SRCAP	10847	hgsc.bcm.edu	37	16	30734928	30734928	+	Silent	SNP	T	T	C			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr16:30734928T>C	ENST00000262518.4	+	25	4568	c.4183T>C	c.(4183-4185)Ttg>Ctg	p.L1395L	SRCAP_ENST00000395059.2_Silent_p.L1333L|SRCAP_ENST00000344771.4_Silent_p.L1237L	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1395	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)			AGCTGCCCCCTTGACCATCTC	0.567																																																0													149	141	144					16																	30734928		2197	4300	6497	SO:0001819	synonymous_variant	10847			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.4183T>C	chr16.hg19:g.30734928T>C			B0JZA6|O15026|Q7Z744|Q9Y5L9	Silent	SNP	ENST00000262518.4	hg19	CCDS10689.2																																																																																				0.567	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		C	30734928	T	C	30734928	2	2	672	1	0	0	0	0	0	0	0	1	15140	1606	56	3		3	SRCAP	16	30734928	Silent	SNP	T	TCGA-HE-A5NF-01A-11D-A26P-10	28449926	30734928	59619825	56	36951											
SLC12A3	6559	hgsc.bcm.edu	37	16	56919183	56919183	+	Missense_Mutation	SNP	A	A	C			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr16:56919183A>C	ENST00000563236.1	+	15	1857	c.1832A>C	c.(1831-1833)aAt>aCt	p.N611T	SLC12A3_ENST00000566786.1_Missense_Mutation_p.N610T|SLC12A3_ENST00000438926.2_Missense_Mutation_p.N611T|SLC12A3_ENST00000262502.5_Missense_Mutation_p.N610T			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	611					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)	CCAGAGGTAAATTGGGGCTCC	0.567																																																0			GRCh37	CM075008	SLC12A3	M							85	63	70					16																	56919183		2156	4234	6390	SO:0001583	missense	6559				CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"Solute carriers"	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.1832A>C	chr16.hg19:g.56919183A>C	ENSP00000456149:p.Asn611Thr		A8MSJ2|C9JNN9	Missense_Mutation	SNP	ENST00000563236.1	hg19	CCDS58464.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.386422	0.82902	.	.	ENSG00000070915	ENST00000438926;ENST00000262502	.	.	.	5.4	5.4	0.78164	Amino acid permease domain (1);	0.088014	0.85682	D	0.000000	T	0.77478	0.4136	M	0.71296	2.17	0.80722	D	1	P;D;D	0.76494	0.735;0.999;0.999	B;D;D	0.74674	0.426;0.984;0.973	T	0.80415	-0.1392	9	0.87932	D	0	.	14.4174	0.67160	1.0:0.0:0.0:0.0	.	610;611;611	P55017-3;P55017;P55017-2	.;S12A3_HUMAN;.	T	610;611	.	ENSP00000262502:N611T	N	+	2	0	SLC12A3	55476684	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	9.060000	0.93907	2.048000	0.60808	0.533000	0.62120	AAT		0.567	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1			C	56919183	A	C	56919183	3	2	672	1	0	0	0	0	1	0	0	0	14390	101	4	5	1890	5	SLC12A3	16	56919183	Missense_Mutation	SNP	A	TCGA-HE-A5NF-01A-11D-A26P-10	26184255	56919183	33435570	57	36952											
KIAA0753	9851	hgsc.bcm.edu	37	17	6526336	6526336	+	Missense_Mutation	SNP	G	G	C			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr17:6526336G>C	ENST00000361413.3	-	6	1328	c.970C>G	c.(970-972)Cga>Gga	p.R324G	KIAA0753_ENST00000589033.1_5'Flank|KIAA0753_ENST00000542606.1_Missense_Mutation_p.R25G|KIAA0753_ENST00000572370.1_Missense_Mutation_p.R25G	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	324						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		TGCTCCCCTCGGTCAGTAAAC	0.517																																																0													62	60	60					17																	6526336		1915	4127	6042	SO:0001583	missense	9851				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.970C>G	chr17.hg19:g.6526336G>C	ENSP00000355250:p.Arg324Gly		A8KA11|B7Z479|O94853|Q05D97|Q2KHN0|Q9UG45	Missense_Mutation	SNP	ENST00000361413.3	hg19	CCDS42247.1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.533928	0.27387	.	.	ENSG00000198920	ENST00000361413;ENST00000542606	D;D	0.86230	-2.09;-2.09	5.7	-0.0324	0.13905	.	0.841046	0.10770	N	0.636068	T	0.79052	0.4381	L	0.42245	1.32	0.80722	D	1	B	0.18013	0.025	B	0.17098	0.017	T	0.65903	-0.6055	10	0.30078	T	0.28	-0.3706	5.2141	0.15332	0.0698:0.1147:0.3462:0.4694	.	324	Q2KHM9	K0753_HUMAN	G	324;25	ENSP00000355250:R324G;ENSP00000444634:R25G	ENSP00000355250:R324G	R	-	1	2	KIAA0753	6467060	1.000000	0.71417	0.995000	0.50966	0.396000	0.30629	2.647000	0.46639	0.118000	0.18165	-1.035000	0.02400	CGA		0.517	KIAA0753-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439769.3	NM_014804		C	6526336	G	C	6526336	3	2	672	1	0	0	0	0	1	0	0	0	8193	1124	39	4	1989	4	KIAA0753	17	6526336	Missense_Mutation	SNP	G	TCGA-HE-A5NF-01A-11D-A26P-10		6526336	74668874	58	36953											
SHBG	6462	hgsc.bcm.edu	37	17	7534128	7534128	+	Missense_Mutation	SNP	C	C	G			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr17:7534128C>G	ENST00000380450.4	+	3	365	c.334C>G	c.(334-336)Cac>Gac	p.H112D	SHBG_ENST00000340624.5_Missense_Mutation_p.H54D|SAT2_ENST00000380466.2_5'Flank|SHBG_ENST00000576478.1_Missense_Mutation_p.H54D|SHBG_ENST00000575903.1_Missense_Mutation_p.H112D|SHBG_ENST00000576728.1_Missense_Mutation_p.H54D|SHBG_ENST00000570547.1_Missense_Mutation_p.H54D|SHBG_ENST00000441599.2_Missense_Mutation_p.H112D|SHBG_ENST00000575314.1_Missense_Mutation_p.H54D|SHBG_ENST00000572262.1_Missense_Mutation_p.H54D|SHBG_ENST00000574539.1_Missense_Mutation_p.H54D|SHBG_ENST00000416273.3_Missense_Mutation_p.H112D|SAT2_ENST00000269298.5_5'Flank|SHBG_ENST00000572182.1_Missense_Mutation_p.H54D	NM_001040.3	NP_001031.2	P04278	SHBG_HUMAN	sex hormone-binding globulin	112	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				primary spermatocyte growth (GO:0007285)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	androgen binding (GO:0005497)	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)	ACTGCACAATCACTGGGCCCA	0.567																																																1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)											81	77	78					17																	7534128		2203	4300	6503	SO:0001583	missense	6462				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.334C>G	chr17.hg19:g.7534128C>G	ENSP00000369816:p.His112Asp		B0FWH4|E9PGW1|F5H5Z8|I3L1N7|P14689|Q16616|Q3MIL0|Q6ISD2	Missense_Mutation	SNP	ENST00000380450.4	hg19	CCDS11117.1	.	.	.	.	.	.	.	.	.	.	C	8.055	0.766779	0.15983	.	.	ENSG00000129214	ENST00000340624;ENST00000441599;ENST00000416273;ENST00000441313;ENST00000452698;ENST00000380450	T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11	5.04	-0.0208	0.13954	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	2.361970	0.01468	N	0.016151	T	0.71592	0.3358	L	0.47716	1.5	0.09310	N	1	B;B;B;B;B;B;B;B;B;B;B	0.25007	0.01;0.045;0.023;0.001;0.013;0.116;0.116;0.03;0.007;0.013;0.013	B;B;B;B;B;B;B;B;B;B;B	0.28011	0.011;0.03;0.044;0.001;0.042;0.085;0.085;0.045;0.038;0.031;0.013	T	0.49194	-0.8965	10	0.12103	T	0.63	2.7497	9.104	0.36687	0.0:0.6418:0.1148:0.2435	.	112;107;85;112;112;112;85;85;85;112;54	F5H5Z8;P04278-2;B0FWH6;E9PH59;E9PGW1;E9PGQ3;B0FWH7;B0FWH5;B0FWH4;P04278;B4DYU0	.;.;.;.;.;.;.;.;.;SHBG_HUMAN;.	D	54;112;112;112;112;112	ENSP00000345675:H54D;ENSP00000393426:H112D;ENSP00000388867:H112D;ENSP00000369816:H112D	ENSP00000345675:H54D	H	+	1	0	SHBG	7474853	0.001000	0.12720	0.000000	0.03702	0.014000	0.08584	-0.109000	0.10840	-0.068000	0.12953	-1.134000	0.01955	CAC		0.567	SHBG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226957.2	NM_001040		G	7534128	C	G	7534128	3	3	672	1	0	0	0	0	1	0	0	0	14275	826	29	4	344	4	SHBG	17	7534128	Missense_Mutation	SNP	C	TCGA-HE-A5NF-01A-11D-A26P-10	1007792	7534128	73661082	59	36954											
SOCS7	30837	hgsc.bcm.edu	37	17	36508826	36508826	+	Silent	SNP	C	C	A			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr17:36508826C>A	ENST00000577233.1	+	1	699	c.699C>A	c.(697-699)acC>acA	p.T233T	SOCS7_ENST00000331159.5_Silent_p.T233T	NM_014598.2	NP_055413.1	O14512	SOCS7_HUMAN	suppressor of cytokine signaling 7	233	Mediates interaction with SORBS3.				fat cell differentiation (GO:0045444)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|negative regulation of signal transduction (GO:0009968)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			central_nervous_system(1)|endometrium(1)|kidney(1)|prostate(1)|skin(5)	9	Breast(7;3.47e-17)					GGGATGGGACCGGCAAGAGGC	0.667																																																0													7	10	9					17																	36508826		2166	4235	6401	SO:0001819	synonymous_variant	30837			AB005216	CCDS32637.1	17q12	2014-08-12			ENSG00000274211	ENSG00000274211		"Suppressors of cytokine signaling", "SH2 domain containing"	29846	protein-coding gene	gene with protein product	"Nck, Ash and phospholipase C binding protein", "NCK-associated protein 4"	608788				9344857, 12076535	Standard	XM_005257264		Approved	NAP4, NCKAP4	uc002hqa.3	O14512	OTTHUMG00000188546	ENST00000577233.1:c.699C>A	chr17.hg19:g.36508826C>A			A2VCU2|Q0IJ63	Silent	SNP	ENST00000577233.1	hg19	CCDS32637.1																																																																																				0.667	SOCS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440486.4	XM_371052		A	36508826	C	A	36508826	2	1	672	1	0	0	0	0	0	0	0	1	14925	639	23	4		4	SOCS7	17	36508826	Silent	SNP	C	TCGA-HE-A5NF-01A-11D-A26P-10	28974698	36508826	44686384	60	36955											
KRTAP4-7	100132476	hgsc.bcm.edu	37	17	39240796	39240796	+	Missense_Mutation	SNP	G	G	C	rs553572799|rs199957151	byFrequency	TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr17:39240796G>C	ENST00000391417.4	+	1	338	c.338G>C	c.(337-339)aGc>aCc	p.S113T		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	138	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].		Missing. {ECO:0000269|PubMed:15955084}.		aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.R111_C115delRPSCC(1)|p.?(1)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						tgccgccccagctgctgccgc	0.667																																																2	Unknown(1)|Deletion - In frame(1)	NS(2)																																								SO:0001583	missense	100132476			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.338G>C	chr17.hg19:g.39240796G>C	ENSP00000375236:p.Ser113Thr		A0AVM6|A8MQ08|A8MTL4	Missense_Mutation	SNP	ENST00000391417.4	hg19	CCDS45673.1	.	.	.	.	.	.	.	.	.	.	.	0.047	-1.263726	0.01433	.	.	ENSG00000240871	ENST00000391417	T	0.00627	6.12	2.73	1.66	0.24008	.	2.038930	0.02697	N	0.111300	T	0.00552	0.0018	.	.	.	0.21290	N	0.999731	B	0.13145	0.007	B	0.12837	0.008	T	0.47222	-0.9134	9	0.17832	T	0.49	.	5.1702	0.15107	0.0:0.2319:0.5315:0.2367	.	168	Q9BYR0	KRA47_HUMAN	T	113	ENSP00000375236:S113T	ENSP00000375236:S113T	S	+	2	0	KRTAP4-7	36494322	0.010000	0.17322	0.067000	0.19924	0.024000	0.10985	-0.517000	0.06275	0.191000	0.20236	0.289000	0.19496	AGC		0.667	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1			C	39240796	G	C	39240796	3	2	672	1	0	0	0	0	1	0	0	0	8557	971	34	4	340	4	KRTAP4-7	17	39240796	Missense_Mutation	SNP	G	TCGA-HE-A5NF-01A-11D-A26P-10	2731970	39240796	41954414	61	36956											
TOB1	10140	hgsc.bcm.edu	37	17	48940734	48940734	+	Missense_Mutation	SNP	G	G	C			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr17:48940734G>C	ENST00000268957.3	-	3	1073	c.645C>G	c.(643-645)gaC>gaG	p.D215E	TOB1_ENST00000509385.1_5'UTR|TOB1_ENST00000499247.2_Missense_Mutation_p.D215E	NM_001243877.1	NP_001230806.1	P50616	TOB1_HUMAN	transducer of ERBB2, 1	215					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060212)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of translation (GO:0017148)|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 signal transduction (GO:0009967)|SMAD protein import into nucleus (GO:0007184)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor tyrosine kinase binding (GO:0030971)|SH3/SH2 adaptor activity (GO:0005070)|transcription corepressor activity (GO:0003714)			breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			GCTTCAAGAGGTCATTCACAT	0.527																																					NSCLC(144;643 1919 24513 29423 40686)											0													98	100	99					17																	48940734		2203	4300	6503	SO:0001583	missense	10140			D38305	CCDS11576.1	17q21.33	2012-08-14			ENSG00000141232	ENSG00000141232			11979	protein-coding gene	gene with protein product		605523		TROB1		8632892, 17785442	Standard	NM_005749		Approved	TOB, TROB	uc002isw.3	P50616	OTTHUMG00000162277	ENST00000268957.3:c.645C>G	chr17.hg19:g.48940734G>C	ENSP00000268957:p.Asp215Glu		B2R9T0|D3DTY3|Q4KMQ0	Missense_Mutation	SNP	ENST00000268957.3	hg19	CCDS11576.1	.	.	.	.	.	.	.	.	.	.	G	6.571	0.473717	0.12521	.	.	ENSG00000141232	ENST00000499247;ENST00000268957	T;T	0.39229	1.09;1.09	6.07	6.07	0.98685	.	0.168901	0.51477	D	0.000081	T	0.21550	0.0519	N	0.02539	-0.55	0.38296	D	0.94283	B	0.16396	0.017	B	0.12156	0.007	T	0.14254	-1.0479	10	0.38643	T	0.18	.	14.7663	0.69642	0.0684:0.0:0.9316:0.0	.	215	P50616	TOB1_HUMAN	E	215	ENSP00000427695:D215E;ENSP00000268957:D215E	ENSP00000268957:D215E	D	-	3	2	TOB1	46295733	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.185000	0.32065	2.885000	0.99019	0.655000	0.94253	GAC		0.527	TOB1-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000368364.1			C	48940734	G	C	48940734	3	2	672	1	0	0	0	0	1	0	0	0	16352	1252	44	4	396	4	TOB1	17	48940734	Missense_Mutation	SNP	G	TCGA-HE-A5NF-01A-11D-A26P-10	9699938	48940734	32254476	62	36957											
TOMM40	10452	hgsc.bcm.edu	37	19	45397281	45397281	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr19:45397281G>A	ENST00000426677.2	+	5	781	c.601G>A	c.(601-603)Gca>Aca	p.A201T	TOMM40_ENST00000592434.1_Missense_Mutation_p.A201T|TOMM40_ENST00000405636.2_Missense_Mutation_p.A201T|TOMM40_ENST00000252487.5_Missense_Mutation_p.A201T	NM_001128917.1	NP_001122389.1	O96008	TOM40_HUMAN	translocase of outer mitochondrial membrane 40 homolog (yeast)	201					cellular protein metabolic process (GO:0044267)|ion transport (GO:0006811)|protein targeting to mitochondrion (GO:0006626)|protein transmembrane transport (GO:0071806)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial outer membrane translocase complex (GO:0005742)|pore complex (GO:0046930)	porin activity (GO:0015288)|protein transmembrane transporter activity (GO:0008320)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1)	5	Lung NSC(12;0.0018)|all_lung(12;0.00481)			OV - Ovarian serous cystadenocarcinoma(262;0.0033)|Epithelial(262;0.176)		TGACTTCACAGCAGCCGTCAC	0.617																																																0													45	44	45					19																	45397281		2203	4300	6503	SO:0001583	missense	10452			AF043250	CCDS12646.1	19q13	2008-07-04				ENSG00000130204			18001	protein-coding gene	gene with protein product		608061				10980201, 15644312	Standard	NM_006114		Approved	PEREC1, D19S1177E, C19orf1, TOM40, PER-EC1	uc002paa.4	O96008		ENST00000426677.2:c.601G>A	chr19.hg19:g.45397281G>A	ENSP00000410339:p.Ala201Thr		Q86VW4|Q8WY09|Q8WY10|Q8WY11|Q9BR95	Missense_Mutation	SNP	ENST00000426677.2	hg19	CCDS12646.1	.	.	.	.	.	.	.	.	.	.	G	16.63	3.176405	0.57692	.	.	ENSG00000130204	ENST00000426677;ENST00000405636;ENST00000252487	T;T;T	0.45668	0.89;0.89;0.89	4.76	4.76	0.60689	.	0.122142	0.53938	D	0.000046	T	0.39145	0.1067	L	0.49571	1.57	0.46701	D	0.999162	B;B	0.26975	0.165;0.037	B;B	0.28139	0.086;0.05	T	0.20306	-1.0279	10	0.28530	T	0.3	1.0773	15.2511	0.73545	0.0:0.0:1.0:0.0	.	201;201	O96008-2;O96008	.;TOM40_HUMAN	T	201	ENSP00000410339:A201T;ENSP00000385184:A201T;ENSP00000252487:A201T	ENSP00000252487:A201T	A	+	1	0	TOMM40	50089121	1.000000	0.71417	0.016000	0.15963	0.939000	0.58152	5.430000	0.66501	2.191000	0.70037	0.561000	0.74099	GCA		0.617	TOMM40-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453241.1			A	45397281	G	A	45397281	3	1	672	1	0	0	0	0	1	0	0	0	16363	971	34	2	619	2	TOMM40	19	45397281	Missense_Mutation	SNP	G	TCGA-HE-A5NF-01A-11D-A26P-10		45397281	13731702	63	36958											
NKX2-2	4821	hgsc.bcm.edu	37	20	21492814	21492814	+	Missense_Mutation	SNP	T	T	G			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr20:21492814T>G	ENST00000377142.4	-	2	925	c.569A>C	c.(568-570)aAa>aCa	p.K190T	NKX2-2-AS1_ENST00000549659.1_RNA	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	190					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						CTCCATACCTTTCTCGGCCCG	0.667																																																0													38	40	39					20																	21492814		2202	4300	6502	SO:0001583	missense	4821			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.569A>C	chr20.hg19:g.21492814T>G	ENSP00000366347:p.Lys190Thr			Missense_Mutation	SNP	ENST00000377142.4	hg19	CCDS13145.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.724176	0.89298	.	.	ENSG00000125820	ENST00000377142	D	0.91996	-2.95	5.35	5.35	0.76521	Homeobox (1);	0.000000	0.85682	D	0.000000	D	0.94499	0.8229	M	0.73217	2.22	0.80722	D	1	D	0.57257	0.979	P	0.57620	0.824	D	0.94718	0.7898	10	0.56958	D	0.05	.	15.3169	0.74089	0.0:0.0:0.0:1.0	.	190	O95096	NKX22_HUMAN	T	190	ENSP00000366347:K190T	ENSP00000366347:K190T	K	-	2	0	NKX2-2	21440814	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.002000	0.88514	2.014000	0.59158	0.379000	0.24179	AAA		0.667	NKX2-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078278.9			G	21492814	T	G	21492814	3	3	672	1	0	0	0	0	1	0	0	0	10452	1841	64	5	256	5	NKX2-2	20	21492814	Missense_Mutation	SNP	T	TCGA-HE-A5NF-01A-11D-A26P-10		21492814	41532706	64	36959											
SETD4	54093	hgsc.bcm.edu	37	21	37408418	37408418	+	Silent	SNP	G	G	C			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr21:37408418G>C	ENST00000399215.1	-	10	2692	c.1320C>G	c.(1318-1320)acC>acG	p.T440T	SETD4_ENST00000481477.1_5'UTR|SETD4_ENST00000332131.4_Silent_p.T440T|AP000688.1_ENST00000600312.1_Intron|SETD4_ENST00000399212.1_Silent_p.T416T			Q9NVD3	SETD4_HUMAN	SET domain containing 4	440				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						GGTGAAATCAGGTAAAAGCTG	0.433																																																0													147	146	146					21																	37408418		2203	4300	6503	SO:0001819	synonymous_variant	54093			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.1320C>G	chr21.hg19:g.37408418G>C			B4DT14|D3DSG2|D3DSG4|Q8NE19|Q9BU46	Silent	SNP	ENST00000399215.1	hg19	CCDS13640.1																																																																																				0.433	SETD4-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194456.1	NM_017438		C	37408418	G	C	37408418	2	2	672	1	0	0	0	0	0	0	0	1	14139	987	35	4		4	SETD4	21	37408418	Silent	SNP	G	TCGA-HE-A5NF-01A-11D-A26P-10		37408418	10721477	65	36960											
MCM3AP	8888	hgsc.bcm.edu	37	21	47664760	47664760	+	Missense_Mutation	SNP	C	C	T			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr21:47664760C>T	ENST00000397708.1	-	24	5253	c.4999G>A	c.(4999-5001)Ggg>Agg	p.G1667R	MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA|AP001469.7_ENST00000444966.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.G1667R|MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1667	Acetyltransferase.				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)					AGCTGGAACCCGAGCACAGCC	0.642																																																0													38	38	38					21																	47664760		2203	4300	6503	SO:0001583	missense	8888			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.4999G>A	chr21.hg19:g.47664760C>T	ENSP00000380820:p.Gly1667Arg		C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	hg19	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.146050	0.37923	.	.	ENSG00000160294	ENST00000397708;ENST00000291688;ENST00000539647	T;T	0.03468	3.92;3.92	5.55	2.48	0.30137	.	0.335736	0.36409	N	0.002607	T	0.05456	0.0144	L	0.47716	1.5	0.29780	N	0.834087	B;D	0.59767	0.022;0.986	B;P	0.49421	0.005;0.61	T	0.14699	-1.0463	10	0.56958	D	0.05	-13.7278	5.035	0.14430	0.3494:0.4672:0.0:0.1834	.	1667;162	O60318;B3KT88	MCM3A_HUMAN;.	R	1667;1667;162	ENSP00000380820:G1667R;ENSP00000291688:G1667R	ENSP00000291688:G1667R	G	-	1	0	MCM3AP	46489188	0.922000	0.31269	0.682000	0.30024	0.188000	0.23474	1.789000	0.38724	0.711000	0.32018	-0.136000	0.14681	GGG		0.642	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		T	47664760	C	T	47664760	3	4	672	1	0	0	0	0	1	0	0	0	9390	652	23	1	967	1	MCM3AP	21	47664760	Missense_Mutation	SNP	C	TCGA-HE-A5NF-01A-11D-A26P-10	10256342	47664760	465135	66	36961											
PI4KA	5297	hgsc.bcm.edu	37	22	21119517	21119517	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr22:21119517C>T	ENST00000572273.1	-	21	2501	c.2271G>A	c.(2269-2271)tgG>tgA	p.W757*	PI4KA_ENST00000466162.1_5'UTR|PI4KA_ENST00000255882.6_Nonsense_Mutation_p.W815*			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	757					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)			ATTCTTCTGGCCAGAGTCCTG	0.493																																					GBM(136;1332 1831 3115 23601 50806)											0													93	97	96					22																	21119517		2203	4300	6503	SO:0001587	stop_gained	5297			L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.2271G>A	chr22.hg19:g.21119517C>T	ENSP00000458238:p.Trp757*		Q7Z625|Q9UPG2	Nonsense_Mutation	SNP	ENST00000572273.1	hg19		.	.	.	.	.	.	.	.	.	.	C	40	8.059858	0.98632	.	.	ENSG00000241973	ENST00000255882	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.5831	19.2017	0.93713	0.0:1.0:0.0:0.0	.	.	.	.	X	757	.	ENSP00000255882:W757X	W	-	3	0	PI4KA	19449517	1.000000	0.71417	1.000000	0.80357	0.579000	0.36224	7.539000	0.82063	2.770000	0.95276	0.650000	0.86243	TGG		0.493	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		T	21119517	C	T	21119517	4	4	672	1	0	0	0	0	0	1	0	0	11875	740	26	2	4003	2	PI4KA	22	21119517	Nonsense_Mutation	SNP	C	TCGA-HE-A5NF-01A-11D-A26P-10		21119517	30185049	67	36962											
ZNF436	80818	hgsc.bcm.edu	37	1	23693623	23693623	+	Silent	SNP	G	G	A			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr1:23693623G>A	ENST00000314011.4	-	3	208	c.72C>T	c.(70-72)acC>acT	p.T24T	C1orf213_ENST00000335648.3_5'Flank|C1orf213_ENST00000454117.1_5'Flank|C1orf213_ENST00000518821.1_5'Flank|ZNF436_ENST00000374608.3_Silent_p.T24T|C1orf213_ENST00000437367.2_5'Flank	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN	zinc finger protein 436	24	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		ATTCTTCCCGGGTGAGATACA	0.438																																																0													136	129	132					1																	23693623		2203	4300	6503	SO:0001819	synonymous_variant	80818			AB051497	CCDS233.1	1p36	2013-01-08			ENSG00000125945	ENSG00000125945		"Zinc fingers, C2H2-type", "-"	20814	protein-coding gene	gene with protein product		611703				11214970	Standard	NM_001077195		Approved	KIAA1710, Zfp46	uc001bgt.3	Q9C0F3	OTTHUMG00000003232	ENST00000314011.4:c.72C>T	chr1.hg19:g.23693623G>A			Q658I9	Silent	SNP	ENST00000314011.4	hg19	CCDS233.1																																																																																				0.438	ZNF436-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008908.1	NM_030634		A	23693623	G	A	23693623	2	1	673	1	0	0	0	0	0	0	0	1	17914	1219	43	2		2	ZNF436	1	23693623	Silent	SNP	G	TCGA-HE-A5NH-01A-11D-A26P-10		23693623	225556998	1	36963											
KLF17	128209	hgsc.bcm.edu	37	1	44595405	44595405	+	Silent	SNP	C	C	G			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr1:44595405C>G	ENST00000372299.3	+	2	520	c.462C>G	c.(460-462)ccC>ccG	p.P154P	KLF17_ENST00000476802.1_Intron	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	154					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)					TAAGGATGCCCCCCAATGGGC	0.562																																																0													33	37	35					1																	44595405		2203	4300	6503	SO:0001819	synonymous_variant	128209			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.462C>G	chr1.hg19:g.44595405C>G			Q86VQ7|Q8N805	Silent	SNP	ENST00000372299.3	hg19	CCDS508.1																																																																																				0.562	KLF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026646.1	NM_173484		G	44595405	C	G	44595405	2	3	673	1	0	0	0	0	0	0	0	1	8347	610	22	4		4	KLF17	1	44595405	Silent	SNP	C	TCGA-HE-A5NH-01A-11D-A26P-10	20901782	44595405	204655216	2	36964											
LRRC8C	84230	hgsc.bcm.edu	37	1	90179946	90179946	+	Missense_Mutation	SNP	A	A	C			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr1:90179946A>C	ENST00000370454.4	+	3	2072	c.1817A>C	c.(1816-1818)cAt>cCt	p.H606P	RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	606					fat cell differentiation (GO:0045444)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		CGTATTCCTCATGCTGTGTTC	0.448																																																0													57	55	56					1																	90179946		2203	4300	6503	SO:0001583	missense	84230				CCDS725.1	1p22.2	2011-02-10			ENSG00000171488	ENSG00000171488			25075	protein-coding gene	gene with protein product	"hypothetical protein AD158"	612889				11230166	Standard	NM_032270		Approved	AD158	uc001dnl.4	Q8TDW0	OTTHUMG00000010305	ENST00000370454.4:c.1817A>C	chr1.hg19:g.90179946A>C	ENSP00000359483:p.His606Pro		B3KXS9|Q29RV6|Q9H075	Missense_Mutation	SNP	ENST00000370454.4	hg19	CCDS725.1	.	.	.	.	.	.	.	.	.	.	A	15.17	2.754041	0.49362	.	.	ENSG00000171488	ENST00000370454	T	0.54866	0.55	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.31199	0.0789	N	0.00656	-1.285	0.80722	D	1	D	0.67145	0.996	D	0.72625	0.978	T	0.63730	-0.6571	10	0.39692	T	0.17	.	16.5441	0.84409	1.0:0.0:0.0:0.0	.	606	Q8TDW0	LRC8C_HUMAN	P	606	ENSP00000359483:H606P	ENSP00000359483:H606P	H	+	2	0	LRRC8C	89952534	1.000000	0.71417	0.397000	0.26308	0.684000	0.39900	9.284000	0.95882	2.364000	0.80123	0.524000	0.50904	CAT		0.448	LRRC8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028435.2	NM_032270		C	90179946	A	C	90179946	3	2	673	1	0	0	0	0	1	0	0	0	9025	217	8	5	1823	5	LRRC8C	1	90179946	Missense_Mutation	SNP	A	TCGA-HE-A5NH-01A-11D-A26P-10	45584541	90179946	159070675	3	36965											
EVI5	7813	hgsc.bcm.edu	37	1	93073196	93073196	+	Missense_Mutation	SNP	T	T	A			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr1:93073196T>A	ENST00000370331.1	-	15	1877	c.1868A>T	c.(1867-1869)aAa>aTa	p.K623I	EVI5_ENST00000540033.1_Missense_Mutation_p.K623I|EVI5_ENST00000543509.1_Missense_Mutation_p.K634I|EVI5_ENST00000491940.1_5'UTR	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	623	Dimerization.|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)		AAGGAGTCCTTTGTTCTGTGC	0.358																																																0													166	149	154					1																	93073196		2202	4299	6501	SO:0001583	missense	7813			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.1868A>T	chr1.hg19:g.93073196T>A	ENSP00000359356:p.Lys623Ile		A6NKX8|B9A6J0|Q9H1Y9	Missense_Mutation	SNP	ENST00000370331.1	hg19	CCDS30774.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.656843	0.88154	.	.	ENSG00000067208	ENST00000370331;ENST00000540033;ENST00000543509	T;T;T	0.37584	1.19;1.19;1.19	5.59	4.26	0.50523	.	0.052940	0.85682	D	0.000000	T	0.44286	0.1286	M	0.79123	2.44	0.51767	D	0.999936	P;P	0.49696	0.927;0.88	P;P	0.55455	0.776;0.602	T	0.51124	-0.8745	10	0.87932	D	0	-27.0804	12.0805	0.53667	0.0:0.0783:0.0:0.9217	.	634;623	F5H4R0;O60447	.;EVI5_HUMAN	I	623;623;634	ENSP00000359356:K623I;ENSP00000440826:K623I;ENSP00000445019:K634I	ENSP00000359356:K623I	K	-	2	0	EVI5	92845784	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.949000	0.70257	2.132000	0.65825	0.533000	0.62120	AAA		0.358	EVI5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030047.1	NM_005665		A	93073196	T	A	93073196	3	1	673	1	0	0	0	0	1	0	0	0	5291	1841	64	5	580	5	EVI5	1	93073196	Missense_Mutation	SNP	T	TCGA-HE-A5NH-01A-11D-A26P-10	2893250	93073196	156177425	4	36966											
EDEM3	80267	hgsc.bcm.edu	37	1	184723718	184723718	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr1:184723718delT	ENST00000318130.8	-	1	329	c.63delA	c.(61-63)ctafs	p.L21fs	EDEM3_ENST00000367512.3_5'Flank	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	21					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						TCGCCGCCACTAGTCTCCATC	0.716																																																0													5	10	9					1																	184723718		667	1557	2224	SO:0001589	frameshift_variant	80267			AF288393	CCDS1363.2	1q25	2008-02-05	2006-03-31	2006-03-31	ENSG00000116406	ENSG00000116406			16787	protein-coding gene	gene with protein product		610214	"chromosome 1 open reading frame 22"	C1orf22		15537790, 15579471	Standard	NM_025191		Approved		uc010pok.2	Q9BZQ6	OTTHUMG00000035387	ENST00000318130.8:c.63delA	chr1.hg19:g.184723718delT	ENSP00000318147:p.Leu21fs		B2RCH6|B7ZLZ2|Q0VGM5|Q5TEZ0|Q9HCW1|Q9UFV7	Frame_Shift_Del	DEL	ENST00000318130.8	hg19	CCDS1363.2																																																																																				0.716	EDEM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085785.3	NM_025191		-	184723718	T	-	184723718	7	5	673	1	0	1	0	1	0	0	0	0	4915	1509	53	0	2815	0	EDEM3	1	184723718	Frame_Shift_Del	DEL	T	TCGA-HE-A5NH-01A-11D-A26P-10	91650522	184723718	64526903	5	36967											
HMCN1	83872	hgsc.bcm.edu	37	1	186082053	186082053	+	Missense_Mutation	SNP	A	A	G			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr1:186082053A>G	ENST00000271588.4	+	72	11328	c.11099A>G	c.(11098-11100)aAg>aGg	p.K3700R	HMCN1_ENST00000367492.2_Missense_Mutation_p.K3700R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3700	Ig-like C2-type 35.				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						ATTGCAGGAAAGACTACAAGA	0.393																																																0													106	101	103					1																	186082053		2203	4300	6503	SO:0001583	missense	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.11099A>G	chr1.hg19:g.186082053A>G	ENSP00000271588:p.Lys3700Arg		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	hg19	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	A	14.68	2.607517	0.46527	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.69561	-0.41;-0.41	4.91	3.77	0.43336	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.134451	0.64402	D	0.000003	T	0.62527	0.2435	N	0.12637	0.245	0.45747	D	0.99864	D	0.69078	0.997	D	0.80764	0.994	T	0.58278	-0.7664	10	0.21014	T	0.42	.	10.2014	0.43087	0.921:0.0:0.079:0.0	.	3700	Q96RW7	HMCN1_HUMAN	R	3700	ENSP00000271588:K3700R;ENSP00000356462:K3700R	ENSP00000271588:K3700R	K	+	2	0	HMCN1	184348676	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.263000	0.58853	1.957000	0.56846	0.533000	0.62120	AAG		0.393	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		G	186082053	A	G	186082053	3	3	673	1	0	0	0	0	1	0	0	0	7222	72	3	3	11385	3	HMCN1	1	186082053	Missense_Mutation	SNP	A	TCGA-HE-A5NH-01A-11D-A26P-10	1358335	186082053	63168568	6	36968											
NBAS	51594	hgsc.bcm.edu	37	2	15519770	15519770	+	Missense_Mutation	SNP	G	G	T			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr2:15519770G>T	ENST00000281513.5	-	30	3571	c.3546C>A	c.(3544-3546)ttC>ttA	p.F1182L	NBAS_ENST00000441750.1_Missense_Mutation_p.F1062L	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1182					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						TAGAAGAATTGAAGTACTCTC	0.443																																																0													115	113	114					2																	15519770		2203	4300	6503	SO:0001583	missense	51594			BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.3546C>A	chr2.hg19:g.15519770G>T	ENSP00000281513:p.Phe1182Leu		O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	hg19	CCDS1685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.8|27.8	4.863074|4.863074	0.91511|0.91511	.|.	.|.	ENSG00000151779|ENSG00000151779	ENST00000441750;ENST00000281513;ENST00000441755|ENST00000442506	T;T;T|.	0.32272|.	1.46;1.46;1.46|.	5.79|5.79	4.92|4.92	0.64577|0.64577	Secretory pathway Sec39 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.75258|.	0.3825|.	M|M	0.78637|0.78637	2.42|2.42	0.58432|0.58432	D|D	0.999999|0.999999	D;D|.	0.89917|.	0.992;1.0|.	D;D|.	0.91635|.	0.965;0.999|.	T|.	0.76699|.	-0.2863|.	10|.	0.87932|.	D|.	0|.	.|.	14.7925|14.7925	0.69854|0.69854	0.0691:0.0:0.9309:0.0|0.0691:0.0:0.9309:0.0	.|.	1062;1182|.	A2RRP1-2;A2RRP1|.	.;NBAS_HUMAN|.	L|X	1062;1182;229|230	ENSP00000413201:F1062L;ENSP00000281513:F1182L;ENSP00000396501:F229L|.	ENSP00000281513:F1182L|.	F|S	-|-	3|2	2|0	NBAS|NBAS	15437221|15437221	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	4.815000|4.815000	0.62634|0.62634	1.461000|1.461000	0.47929|0.47929	0.563000|0.563000	0.77884|0.77884	TTC|TCA		0.443	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		T	15519770	G	T	15519770	3	4	673	1	0	0	0	0	1	0	0	0	10188	1281	45	4	3661	4	NBAS	2	15519770	Missense_Mutation	SNP	G	TCGA-HE-A5NH-01A-11D-A26P-10		15519770	227679603	7	36969											
PNPT1	87178	hgsc.bcm.edu	37	2	55863462	55863462	+	Silent	SNP	C	C	T			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr2:55863462C>T	ENST00000447944.2	-	28	2348	c.2262G>A	c.(2260-2262)tcG>tcA	p.S754S		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	754					cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA polyadenylation (GO:0097222)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA 5'-end processing (GO:0000964)|mitochondrial RNA catabolic process (GO:0000957)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle arrest (GO:0071850)|mRNA catabolic process (GO:0006402)|negative regulation of growth (GO:0045926)|nuclear polyadenylation-dependent mRNA catabolic process (GO:0071042)|positive regulation of miRNA catabolic process (GO:2000627)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|positive regulation of mRNA catabolic process (GO:0061014)|protein homooligomerization (GO:0051260)|protein homotrimerization (GO:0070207)|regulation of cellular respiration (GO:0043457)|regulation of cellular senescence (GO:2000772)|RNA catabolic process (GO:0006401)|RNA import into mitochondrion (GO:0035927)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA polyadenylation (GO:0043631)|rRNA import into mitochondrion (GO:0035928)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrial degradosome (GO:0045025)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	3'-5'-exoribonuclease activity (GO:0000175)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|polyribonucleotide nucleotidyltransferase activity (GO:0004654)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TTGTAGCTGGCGACTGAAGCA	0.393																																																0													93	84	87					2																	55863462		2203	4300	6503	SO:0001819	synonymous_variant	87178			BC053660	CCDS1856.1	2p15	2013-01-08			ENSG00000138035	ENSG00000138035			23166	protein-coding gene	gene with protein product	"polynucleotide phosphorylase", "3'-5' RNA exonuclease"	610316	"deafness, autosomal recessive 70"	DFNB70		12419256	Standard	NM_033109		Approved	PNPase, OLD35, old-35	uc002rzf.3	Q8TCS8	OTTHUMG00000129335	ENST00000447944.2:c.2262G>A	chr2.hg19:g.55863462C>T			Q53SU0|Q68CN1|Q7Z7D1|Q8IWX1|Q96T05|Q9BRU3|Q9BVX0	Silent	SNP	ENST00000447944.2	hg19	CCDS1856.1																																																																																				0.393	PNPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251481.2	NM_033109		T	55863462	C	T	55863462	2	4	673	1	0	0	0	0	0	0	0	1	12175	755	27	1		1	PNPT1	2	55863462	Silent	SNP	C	TCGA-HE-A5NH-01A-11D-A26P-10	40343692	55863462	187335911	8	36970											
RIF1	55183	hgsc.bcm.edu	37	2	152320162	152320162	+	Missense_Mutation	SNP	A	A	T			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr2:152320162A>T	ENST00000243326.5	+	29	4611	c.4128A>T	c.(4126-4128)aaA>aaT	p.K1376N	RIF1_ENST00000428287.2_Missense_Mutation_p.K1376N|RIF1_ENST00000444746.2_Missense_Mutation_p.K1376N|RIF1_ENST00000453091.2_Missense_Mutation_p.K1376N|RIF1_ENST00000430328.2_Missense_Mutation_p.K1376N			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TAGAGGAGAAAAATGTAGAAA	0.348																																																0													72	78	76					2																	152320162		2203	4300	6503	SO:0001583	missense	55183			AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"RAP1 interacting factor homolog (yeast)"			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.4128A>T	chr2.hg19:g.152320162A>T	ENSP00000243326:p.Lys1376Asn		A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	hg19	CCDS2194.1	.	.	.	.	.	.	.	.	.	.	A	0.921	-0.715998	0.03206	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58	5.45	1.54	0.23209	.	0.844182	0.10956	N	0.615469	T	0.20210	0.0486	L	0.41710	1.295	0.09310	N	1	B;B	0.28512	0.078;0.214	B;B	0.21546	0.015;0.035	T	0.21895	-1.0232	10	0.39692	T	0.17	-9.694	3.1462	0.06472	0.5289:0.0:0.2045:0.2666	.	1376;1376	Q5UIP0;Q5UIP0-2	RIF1_HUMAN;.	N	1376	ENSP00000390181:K1376N;ENSP00000414615:K1376N;ENSP00000415691:K1376N;ENSP00000243326:K1376N;ENSP00000416123:K1376N	ENSP00000243326:K1376N	K	+	3	2	RIF1	152028408	0.003000	0.15002	0.001000	0.08648	0.192000	0.23643	0.898000	0.28404	0.384000	0.24942	0.455000	0.32223	AAA		0.348	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			T	152320162	A	T	152320162	3	4	673	1	0	0	0	0	1	0	0	0	13365	11	1	5	4242	5	RIF1	2	152320162	Missense_Mutation	SNP	A	TCGA-HE-A5NH-01A-11D-A26P-10	96456700	152320162	90879211	9	36971											
PLA2R1	22925	hgsc.bcm.edu	37	2	160825863	160825863	+	Missense_Mutation	SNP	C	C	G			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr2:160825863C>G	ENST00000283243.7	-	19	2874	c.2668G>C	c.(2668-2670)Gat>Cat	p.D890H	PLA2R1_ENST00000392771.1_Missense_Mutation_p.D890H	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	890	C-type lectin 5. {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						GGTGTTCCATCTCTCCAGCTG	0.408																																																0													116	110	112					2																	160825863		2203	4300	6503	SO:0001583	missense	22925			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.2668G>C	chr2.hg19:g.160825863C>G	ENSP00000283243:p.Asp890His		B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Missense_Mutation	SNP	ENST00000283243.7	hg19	CCDS33309.1	.	.	.	.	.	.	.	.	.	.	C	19.65	3.867614	0.72065	.	.	ENSG00000153246	ENST00000283243;ENST00000392771	T;T	0.15834	2.39;2.39	5.8	4.92	0.64577	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.107665	0.64402	D	0.000009	T	0.51143	0.1657	H	0.95365	3.66	0.47994	D	0.999564	B;D;D	0.89917	0.372;1.0;0.999	B;D;D	0.71414	0.309;0.973;0.966	T	0.62604	-0.6819	10	0.51188	T	0.08	.	11.2567	0.49058	0.0:0.9128:0.0:0.0872	.	890;890;890	B7ZML4;Q13018-2;Q13018	.;.;PLA2R_HUMAN	H	890	ENSP00000283243:D890H;ENSP00000376524:D890H	ENSP00000283243:D890H	D	-	1	0	PLA2R1	160534109	0.976000	0.34144	0.999000	0.59377	0.993000	0.82548	1.512000	0.35812	1.426000	0.47256	0.650000	0.86243	GAT		0.408	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1			G	160825863	C	G	160825863	3	3	673	1	0	0	0	0	1	0	0	0	12012	913	32	4	1779	4	PLA2R1	2	160825863	Missense_Mutation	SNP	C	TCGA-HE-A5NH-01A-11D-A26P-10	8505701	160825863	82373510	10	36972											
TTLL4	9654	hgsc.bcm.edu	37	2	219611762	219611762	+	Missense_Mutation	SNP	A	A	C			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr2:219611762A>C	ENST00000392102.1	+	9	2351	c.2011A>C	c.(2011-2013)Aag>Cag	p.K671Q	TTLL4_ENST00000442769.1_Intron|TTLL4_ENST00000457313.1_Missense_Mutation_p.K506Q|TTLL4_ENST00000258398.4_Missense_Mutation_p.K671Q	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	671	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				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)		GATTGGGAGGAAGGACCGGCT	0.537																																					GBM(172;1818 2053 15407 20943 49753)											0													135	125	128					2																	219611762		2203	4300	6503	SO:0001583	missense	9654				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.2011A>C	chr2.hg19:g.219611762A>C	ENSP00000375951:p.Lys671Gln		A8K6V5|Q8WW29	Missense_Mutation	SNP	ENST00000392102.1	hg19	CCDS2422.1	.	.	.	.	.	.	.	.	.	.	A	29.1	4.973585	0.92919	.	.	ENSG00000135912	ENST00000457313;ENST00000392102;ENST00000258398	T;T;T	0.09255	3.0;3.0;3.0	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.50548	0.1622	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	T	0.69982	-0.4997	10	0.87932	D	0	.	15.3584	0.74448	1.0:0.0:0.0:0.0	.	506;671	E9PH58;Q14679	.;TTLL4_HUMAN	Q	506;671;671	ENSP00000393332:K506Q;ENSP00000375951:K671Q;ENSP00000258398:K671Q	ENSP00000258398:K671Q	K	+	1	0	TTLL4	219320006	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.904000	0.92590	2.217000	0.71921	0.482000	0.46254	AAG		0.537	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256726.1	NM_014640		C	219611762	A	C	219611762	3	2	673	1	0	0	0	0	1	0	0	0	16734	247	9	5	2037	5	TTLL4	2	219611762	Missense_Mutation	SNP	A	TCGA-HE-A5NH-01A-11D-A26P-10	58785899	219611762	23587611	11	36973											
CCDC108	255101	hgsc.bcm.edu	37	2	219878079	219878079	+	Missense_Mutation	SNP	C	C	T			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr2:219878079C>T	ENST00000341552.5	-	24	3942	c.3859G>A	c.(3859-3861)Ggt>Agt	p.G1287S	CCDC108_ENST00000453220.1_Missense_Mutation_p.G1287S|CCDC108_ENST00000441968.1_Missense_Mutation_p.G1287S|AC097468.4_ENST00000441450.1_RNA	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1287						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)		ACTGTCACACCTATGAAATTT	0.542																																																0													96	86	89					2																	219878079		2202	4299	6501	SO:0001583	missense	255101			NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.3859G>A	chr2.hg19:g.219878079C>T	ENSP00000340776:p.Gly1287Ser		A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	hg19	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	C	31	5.066292	0.93898	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220	T;T;T	0.13307	2.6;2.6;2.6	5.11	5.11	0.69529	.	0.000000	0.42420	D	0.000714	T	0.40222	0.1108	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.31081	-0.9956	10	0.72032	D	0.01	-14.6861	18.1538	0.89686	0.0:1.0:0.0:0.0	.	1287	Q6ZU64	CC108_HUMAN	S	1287	ENSP00000340776:G1287S;ENSP00000413377:G1287S;ENSP00000409117:G1287S	ENSP00000340776:G1287S	G	-	1	0	CCDC108	219586323	1.000000	0.71417	0.998000	0.56505	0.916000	0.54674	6.610000	0.74178	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		T	219878079	C	T	219878079	3	4	673	1	0	0	0	0	1	0	0	0	2745	681	24	2	1966	2	CCDC108	2	219878079	Missense_Mutation	SNP	C	TCGA-HE-A5NH-01A-11D-A26P-10	266317	219878079	23321294	12	36974											
SPEG	10290	hgsc.bcm.edu	37	2	220349151	220349151	+	Silent	SNP	C	C	T			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr2:220349151C>T	ENST00000312358.7	+	30	7098	c.6966C>T	c.(6964-6966)agC>agT	p.S2322S	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2322					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)		GTCTCAGTAGCAGCATCGAAA	0.692																																																0													15	19	18					2																	220349151		1916	4034	5950	SO:0001819	synonymous_variant	10290			BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"Immunoglobulin superfamily / I-set domain containing"	16901	protein-coding gene	gene with protein product		615950	"aortic preferentially expressed gene 1"	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.6966C>T	chr2.hg19:g.220349151C>T			A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	ENST00000312358.7	hg19	CCDS42824.1																																																																																				0.692	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		T	220349151	C	T	220349151	2	4	673	1	0	0	0	0	0	0	0	1	15041	709	25	2		2	SPEG	2	220349151	Silent	SNP	C	TCGA-HE-A5NH-01A-11D-A26P-10	471072	220349151	22850222	13	36975											
STK11IP	114790	hgsc.bcm.edu	37	2	220470428	220470428	+	Silent	SNP	G	G	T			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr2:220470428G>T	ENST00000456909.1	+	8	807	c.717G>T	c.(715-717)ctG>ctT	p.L239L	STK11IP_ENST00000459692.1_3'UTR|STK11IP_ENST00000295641.10_Silent_p.L250L			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	250					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)		TCCTGATACTGCGAGGCAATG	0.602																																																0													32	32	32					2																	220470428		1964	4137	6101	SO:0001819	synonymous_variant	114790			AF450267	CCDS46521.1	2q35	2008-06-03			ENSG00000144589	ENSG00000144589			19184	protein-coding gene	gene with protein product	"LKB1 interacting protein"	607172				11741830	Standard	NM_052902		Approved	LIP1, KIAA1898, LKB1IP, STK11IP1	uc002vml.3	Q8N1F8	OTTHUMG00000059239	ENST00000456909.1:c.717G>T	chr2.hg19:g.220470428G>T			Q8NAW9|Q8WXE4|Q96CN3|Q96PY9	Silent	SNP	ENST00000456909.1	hg19																																																																																					0.602	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000131432.1	NM_052902		T	220470428	G	T	220470428	2	4	673	1	0	0	0	0	0	0	0	1	15293	1306	46	4		4	STK11IP	2	220470428	Silent	SNP	G	TCGA-HE-A5NH-01A-11D-A26P-10	121277	220470428	22728945	14	36976											
IL5RA	3568	hgsc.bcm.edu	37	3	3139630	3139630	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr3:3139630delA	ENST00000446632.2	-	7	1207	c.633delT	c.(631-633)cttfs	p.L211fs	IL5RA_ENST00000256452.3_Frame_Shift_Del_p.L211fs|IL5RA_ENST00000456302.1_Frame_Shift_Del_p.L211fs|IL5RA_ENST00000438560.1_Frame_Shift_Del_p.L211fs|IL5RA_ENST00000445864.2_Intron|IL5RA_ENST00000418488.2_Frame_Shift_Del_p.L211fs|IL5RA_ENST00000383846.1_Frame_Shift_Del_p.L211fs|IL5RA_ENST00000430514.2_Frame_Shift_Del_p.L211fs|IL5RA_ENST00000311981.8_Frame_Shift_Del_p.L211fs	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	211					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)		CAAGCACCGCAAGCCAGTCAC	0.507																																					GBM(169;430 2801 24955 28528)											0													112	97	102					3																	3139630		2203	4300	6503	SO:0001589	frameshift_variant	3568			M96652	CCDS2559.1, CCDS2560.1, CCDS46739.1, CCDS58813.1	3p26-p24	2008-01-11			ENSG00000091181	ENSG00000091181		"Interleukins and interleukin receptors", "CD molecules"	6017	protein-coding gene	gene with protein product		147851		IL5R		1732409	Standard	NM_175727		Approved	CDw125, CD125	uc010hbs.3	Q01344	OTTHUMG00000090245	ENST00000446632.2:c.633delT	chr3.hg19:g.3139630delA	ENSP00000412209:p.Leu211fs		B3IU77|B4E2G0|Q14633|Q15469|Q6ISX9	Frame_Shift_Del	DEL	ENST00000446632.2	hg19	CCDS2559.1																																																																																				0.507	IL5RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337537.2			-	3139630	A	-	3139630	7	5	673	1	0	1	0	1	0	0	0	0	7702	117	5	0	679	0	IL5RA	3	3139630	Frame_Shift_Del	DEL	A	TCGA-HE-A5NH-01A-11D-A26P-10		3139630	194882800	15	36977											
IL17RC	84818	hgsc.bcm.edu	37	3	9971714	9971714	+	Missense_Mutation	SNP	T	T	C			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr3:9971714T>C	ENST00000295981.3	+	14	1590	c.1372T>C	c.(1372-1374)Tcc>Ccc	p.S458P	IL17RC_ENST00000455057.1_Missense_Mutation_p.S355P|IL17RC_ENST00000383812.4_Missense_Mutation_p.S372P|IL17RC_ENST00000416074.2_Missense_Mutation_p.S226P|IL17RC_ENST00000498214.1_Intron|IL17RC_ENST00000403601.3_Missense_Mutation_p.S387P|IL17RC_ENST00000413608.1_Missense_Mutation_p.S387P	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	458					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-17 receptor activity (GO:0030368)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CCTTCCAGACTCCCTGGGGCC	0.597																																																0													62	66	65					3																	9971714		2203	4300	6503	SO:0001583	missense	84818			BC006411	CCDS2590.1, CCDS2591.2, CCDS46746.1, CCDS56240.1, CCDS56241.1, CCDS74898.1	3p25.3	2008-02-05			ENSG00000163702	ENSG00000163702		"Interleukins and interleukin receptors"	18358	protein-coding gene	gene with protein product		610925				11706037	Standard	NM_153460		Approved	IL17-RL	uc003bua.3	Q8NAC3	OTTHUMG00000128648	ENST00000295981.3:c.1372T>C	chr3.hg19:g.9971714T>C	ENSP00000295981:p.Ser458Pro		E9PHG1|E9PHJ6|Q6UVY3|Q6UWD4|Q8NFS1|Q9BR97	Missense_Mutation	SNP	ENST00000295981.3	hg19	CCDS2590.1	.	.	.	.	.	.	.	.	.	.	T	18.01	3.526941	0.64860	.	.	ENSG00000163702	ENST00000383812;ENST00000295981;ENST00000436503;ENST00000403601;ENST00000416074;ENST00000455057;ENST00000413608	T;T;T;T;T;T;T	0.18174	2.23;2.23;2.23;2.23;2.23;2.23;2.23	5.84	1.78	0.24846	.	0.258488	0.27223	N	0.020354	T	0.25269	0.0614	L	0.59436	1.845	0.26156	N	0.980074	D;D;P;P;P;P;P;D;D;D	0.59357	0.98;0.967;0.93;0.93;0.883;0.883;0.944;0.958;0.966;0.985	P;P;B;P;P;P;B;P;P;P	0.56916	0.731;0.642;0.368;0.462;0.462;0.462;0.439;0.663;0.543;0.809	T	0.03148	-1.1067	10	0.72032	D	0.01	-27.1927	5.0209	0.14361	0.2862:0.0:0.2374:0.4764	.	372;226;355;370;387;387;226;372;458;387	Q8NAC3-4;F5H4Z2;E9PHG1;A8BWD5;E9PHJ6;A8BWC9;B4E008;Q8NAC3-3;Q8NAC3;Q8NAC3-2	.;.;.;.;.;.;.;.;I17RC_HUMAN;.	P	372;458;362;387;226;355;387	ENSP00000373323:S372P;ENSP00000295981:S458P;ENSP00000401128:S362P;ENSP00000384969:S387P;ENSP00000395315:S226P;ENSP00000407894:S355P;ENSP00000396064:S387P	ENSP00000295981:S458P	S	+	1	0	IL17RC	9946714	0.275000	0.24201	1.000000	0.80357	0.836000	0.47400	0.499000	0.22546	1.000000	0.39049	0.459000	0.35465	TCC		0.597	IL17RC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250526.2	NM_032732		C	9971714	T	C	9971714	3	2	673	1	0	0	0	0	1	0	0	0	7643	1551	54	3	1426	3	IL17RC	3	9971714	Missense_Mutation	SNP	T	TCGA-HE-A5NH-01A-11D-A26P-10	6832084	9971714	188050716	16	36978											
ARL13B	200894	hgsc.bcm.edu	37	3	93761993	93761993	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr3:93761993delT	ENST00000394222.3	+	7	1208	c.933delT	c.(931-933)aatfs	p.N312fs	ARL13B_ENST00000471138.1_Frame_Shift_Del_p.N312fs|ARL13B_ENST00000535334.1_Frame_Shift_Del_p.N209fs|ARL13B_ENST00000303097.7_Frame_Shift_Del_p.N205fs|ARL13B_ENST00000539730.1_Frame_Shift_Del_p.N33fs	NM_001174150.1	NP_001167621.1	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 13B	312					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						GCCAAAAAAATAATGAATTTG	0.373																																																0													81	80	81					3																	93761993		2203	4300	6503	SO:0001589	frameshift_variant	200894			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.933delT	chr3.hg19:g.93761993delT	ENSP00000377769:p.Asn312fs		D3DN29|G3V1S8|Q504W8|Q8TCL5	Frame_Shift_Del	DEL	ENST00000394222.3	hg19	CCDS2925.1																																																																																				0.373	ARL13B-005	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352904.1	NM_182896		-	93761993	T	-	93761993	7	5	673	1	0	1	0	1	0	0	0	0	929	1403	49	0	959	0	ARL13B	3	93761993	Frame_Shift_Del	DEL	T	TCGA-HE-A5NH-01A-11D-A26P-10	83790279	93761993	104260437	17	36979											
DZIP1L	199221	hgsc.bcm.edu	37	3	137813760	137813760	+	Missense_Mutation	SNP	A	A	T			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr3:137813760A>T	ENST00000327532.2	-	4	1014	c.652T>A	c.(652-654)Tgg>Agg	p.W218R	DZIP1L_ENST00000488595.1_5'Flank|DZIP1L_ENST00000469243.1_Missense_Mutation_p.W218R	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	218					cilium assembly (GO:0042384)	ciliary basal body (GO:0036064)	metal ion binding (GO:0046872)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						CCTTGGGTCCACTTTAGCTTG	0.567																																																0													204	183	190					3																	137813760		2203	4300	6503	SO:0001583	missense	199221			AK057406	CCDS3096.1, CCDS54645.1	3q22.3	2013-05-22	2013-05-22		ENSG00000158163	ENSG00000158163			26551	protein-coding gene	gene with protein product			"DAZ interacting protein 1-like"			12477932	Standard	NM_173543		Approved	FLJ32844, DZIP2	uc003erq.3	Q8IYY4	OTTHUMG00000159819	ENST00000327532.2:c.652T>A	chr3.hg19:g.137813760A>T	ENSP00000332148:p.Trp218Arg		C9JUG5|Q96M38	Missense_Mutation	SNP	ENST00000327532.2	hg19	CCDS3096.1	.	.	.	.	.	.	.	.	.	.	A	2.056	-0.416478	0.04766	.	.	ENSG00000158163	ENST00000327532;ENST00000469243;ENST00000536706	T;T	0.58940	0.3;0.3	4.85	0.616	0.17613	.	0.838115	0.10499	N	0.667430	T	0.49287	0.1548	L	0.57536	1.79	0.24258	N	0.995292	B;B	0.16166	0.016;0.007	B;B	0.15870	0.01;0.014	T	0.44967	-0.9293	10	0.49607	T	0.09	-4.0524	5.9081	0.19012	0.3628:0.38:0.0:0.2572	.	218;218	Q8IYY4-2;Q8IYY4	.;DZI1L_HUMAN	R	218	ENSP00000332148:W218R;ENSP00000419486:W218R	ENSP00000332148:W218R	W	-	1	0	DZIP1L	139296450	0.994000	0.37717	0.993000	0.49108	0.676000	0.39594	0.188000	0.17018	0.280000	0.22209	0.460000	0.39030	TGG		0.567	DZIP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357548.1	NM_173543		T	137813760	A	T	137813760	3	4	673	1	0	0	0	0	1	0	0	0	4866	159	6	5	1712	5	DZIP1L	3	137813760	Missense_Mutation	SNP	A	TCGA-HE-A5NH-01A-11D-A26P-10	44051767	137813760	60208670	18	36980											
ARAP2	116984	hgsc.bcm.edu	37	4	36069579	36069579	+	Missense_Mutation	SNP	G	G	A	rs377015356		TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr4:36069579G>A	ENST00000303965.4	-	33	5554	c.5065C>T	c.(5065-5067)Cgg>Tgg	p.R1689W		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1689					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						GTTCTTGACCGTTGTAGAACC	0.358																																																0													97	98	98					4																	36069579		2203	4300	6503	SO:0001583	missense	116984			AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16924	protein-coding gene	gene with protein product		606645	"centaurin, delta 1"	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.5065C>T	chr4.hg19:g.36069579G>A	ENSP00000302895:p.Arg1689Trp		Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	ENST00000303965.4	hg19	CCDS3441.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.069954	0.55539	.	.	ENSG00000047365	ENST00000303965	T	0.10573	2.86	5.79	2.62	0.31277	.	0.081885	0.48286	D	0.000197	T	0.19327	0.0464	L	0.32530	0.975	0.26832	N	0.968552	D	0.89917	1.0	D	0.65573	0.936	T	0.02391	-1.1166	10	0.87932	D	0	.	12.1751	0.54180	0.0:0.0:0.5359:0.4641	.	1689	Q8WZ64	ARAP2_HUMAN	W	1689	ENSP00000302895:R1689W	ENSP00000302895:R1689W	R	-	1	2	ARAP2	35745974	0.543000	0.26434	0.703000	0.30354	0.768000	0.43524	1.288000	0.33296	0.691000	0.31592	0.650000	0.86243	CGG		0.358	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230		A	36069579	G	A	36069579	3	1	673	1	0	0	0	0	1	0	0	0	839	1144	40	1	53	1	ARAP2	4	36069579	Missense_Mutation	SNP	G	TCGA-HE-A5NH-01A-11D-A26P-10		36069579	155084697	19	36981											
GABRB1	2560	hgsc.bcm.edu	37	4	47427723	47427723	+	Silent	SNP	C	C	G			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr4:47427723C>G	ENST00000295454.3	+	9	1405	c.1113C>G	c.(1111-1113)acC>acG	p.T371T	GABRB1_ENST00000538619.1_Silent_p.T301T	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	371					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)	TCCTCAGCACCCTGGAAATCC	0.547																																																0													77	75	76					4																	47427723		2203	4300	6503	SO:0001819	synonymous_variant	2560				CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4081	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 1"	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.1113C>G	chr4.hg19:g.47427723C>G			B2R6U7|D6REL3|Q16166|Q8TBK3	Silent	SNP	ENST00000295454.3	hg19	CCDS3474.1																																																																																				0.547	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1			G	47427723	C	G	47427723	2	3	673	1	0	0	0	0	0	0	0	1	6168	610	22	4		4	GABRB1	4	47427723	Silent	SNP	C	TCGA-HE-A5NH-01A-11D-A26P-10	11358144	47427723	143726553	20	36982											
MTRR	4552	hgsc.bcm.edu	37	5	7895903	7895903	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr5:7895903delC	ENST00000264668.2	+	12	1725	c.1695delC	c.(1693-1695)atcfs	p.I565fs	MTRR_ENST00000440940.2_Frame_Shift_Del_p.I538fs	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	565					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)	ACCCCTCAATCCCCATCATAA	0.403																																																0													137	138	138					5																	7895903		2203	4300	6503	SO:0001589	frameshift_variant	4552			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.1695delC	chr5.hg19:g.7895903delC	ENSP00000264668:p.Ile565fs		O60471|Q32MA9|Q7Z4M8	Frame_Shift_Del	DEL	ENST00000264668.2	hg19	CCDS3874.1																																																																																				0.403	MTRR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206931.1			-	7895903	C	-	7895903	7	5	673	1	0	1	0	1	0	0	0	0	9963	845	30	0	1741	0	MTRR	5	7895903	Frame_Shift_Del	DEL	C	TCGA-HE-A5NH-01A-11D-A26P-10		7895903	173019357	21	36983											
PRR16	51334	hgsc.bcm.edu	37	5	120021685	120021685	+	Missense_Mutation	SNP	C	C	A			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr5:120021685C>A	ENST00000407149.2	+	2	405	c.196C>A	c.(196-198)Cag>Aag	p.Q66K	PRR16_ENST00000446965.1_5'UTR|PRR16_ENST00000379551.2_Missense_Mutation_p.Q43K|PRR16_ENST00000505123.1_5'UTR			Q569H4	LARGN_HUMAN	proline rich 16	66					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)		CTCTGACCTACAGCTGGAGGA	0.463																																																0													97	88	91					5																	120021685		2203	4300	6503	SO:0001583	missense	51334			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.196C>A	chr5.hg19:g.120021685C>A	ENSP00000385118:p.Gln66Lys		D3DSZ0|Q8IXY1|Q9NYI5	Missense_Mutation	SNP	ENST00000407149.2	hg19		.	.	.	.	.	.	.	.	.	.	C	22.1	4.240061	0.79912	.	.	ENSG00000184838	ENST00000407149;ENST00000379551	T;T	0.45668	0.89;0.89	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.52240	0.1722	L	0.43152	1.355	0.80722	D	1	D;D	0.67145	0.988;0.996	P;P	0.57911	0.829;0.829	T	0.44190	-0.9344	9	.	.	.	-0.1775	17.7817	0.88526	0.0:1.0:0.0:0.0	.	66;43	Q569H4;Q569H4-3	PRR16_HUMAN;.	K	66;43	ENSP00000385118:Q66K;ENSP00000368869:Q43K	.	Q	+	1	0	PRR16	120049584	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.383000	0.79741	2.568000	0.86640	0.555000	0.69702	CAG		0.463	PRR16-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371059.1	NM_016644		A	120021685	C	A	120021685	3	1	673	1	0	0	0	0	1	0	0	0	12594	479	17	4	133	4	PRR16	5	120021685	Missense_Mutation	SNP	C	TCGA-HE-A5NH-01A-11D-A26P-10	112125782	120021685	60893575	22	36984											
CCNI2	645121	hgsc.bcm.edu	37	5	132088594	132088594	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr5:132088594G>A	ENST00000378731.1	+	6	1093	c.1042G>A	c.(1042-1044)Gta>Ata	p.V348I	SEPT8_ENST00000481030.1_Intron|SEPT8_ENST00000378719.2_Intron	NM_001039780.2	NP_001034869.1	Q6ZMN8	CCNI2_HUMAN	cyclin I family, member 2	348					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)					haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAAGGAACTTGTAATGCAGCA	0.478																																																0													122	105	111					5																	132088594		2203	4300	6503	SO:0001583	missense	645121			BC132837	CCDS34236.1, CCDS75297.1	5q31.1	2014-07-03			ENSG00000205089	ENSG00000205089			33869	protein-coding gene	gene with protein product						23707792	Standard	NM_001287252		Approved	FLJ16793	uc003kxq.1	Q6ZMN8	OTTHUMG00000059737	ENST00000378731.1:c.1042G>A	chr5.hg19:g.132088594G>A	ENSP00000368005:p.Val348Ile		B2RNE2|B7ZMB7|B7ZMB8	Missense_Mutation	SNP	ENST00000378731.1	hg19	CCDS34236.1	.	.	.	.	.	.	.	.	.	.	g	15.24	2.775517	0.49786	.	.	ENSG00000205089	ENST00000378731	T	0.42131	0.98	5.35	2.54	0.30619	.	0.252001	0.38959	N	0.001518	T	0.43055	0.1230	M	0.66297	2.02	0.09310	N	0.999999	B;B;P	0.41710	0.261;0.261;0.76	B;B;P	0.45232	0.03;0.052;0.474	T	0.31194	-0.9952	10	0.52906	T	0.07	.	6.9365	0.24468	0.1591:0.1432:0.6976:0.0	.	349;364;348	B7ZMB7;B7ZMB8;Q6ZMN8	.;.;CCNI2_HUMAN	I	348	ENSP00000368005:V348I	ENSP00000368005:V348I	V	+	1	0	CCNI2	132116493	0.435000	0.25577	0.001000	0.08648	0.003000	0.03518	1.780000	0.38634	0.434000	0.26340	-0.144000	0.13903	GTA		0.478	CCNI2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132833.1	NM_001039780		A	132088594	G	A	132088594	3	1	673	1	0	0	0	0	1	0	0	0	2929	1377	48	2	1064	2	CCNI2	5	132088594	Missense_Mutation	SNP	G	TCGA-HE-A5NH-01A-11D-A26P-10	12066909	132088594	48826666	23	36985											
FAM13B	51306	hgsc.bcm.edu	37	5	137354741	137354741	+	Missense_Mutation	SNP	T	T	C			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr5:137354741T>C	ENST00000033079.3	-	3	511	c.60A>G	c.(58-60)atA>atG	p.I20M	FAM13B_ENST00000425075.2_Intron|FAM13B_ENST00000420893.2_Missense_Mutation_p.I20M	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	20					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(4)|kidney(2)|lung(5)	11						GAATTCCAAATATTTTGTTAG	0.448																																																0													102	99	100					5																	137354741		2203	4300	6503	SO:0001583	missense	51306			AF251038	CCDS4195.1, CCDS47269.1, CCDS47270.1	5q31	2011-09-07	2009-01-20	2009-01-20	ENSG00000031003	ENSG00000031003		"Rho GTPase activating proteins"	1335	protein-coding gene	gene with protein product		609371	"chromosome 5 open reading frame 5", "family with sequence similarity 13, member B1"	C5orf5, FAM13B1		11087669, 11161817	Standard	NM_016603		Approved	N61, KHCHP, ARHGAP49	uc003lbz.2	Q9NYF5	OTTHUMG00000129202	ENST00000033079.3:c.60A>G	chr5.hg19:g.137354741T>C	ENSP00000033079:p.Ile20Met		D3DQB5|G3V0H9|Q3ZCR0|Q6PGQ2|Q9P0I7	Missense_Mutation	SNP	ENST00000033079.3	hg19	CCDS4195.1	.	.	.	.	.	.	.	.	.	.	T	17.19	3.327093	0.60743	.	.	ENSG00000031003	ENST00000033079;ENST00000420893;ENST00000514310;ENST00000502471;ENST00000509596;ENST00000508403;ENST00000505961	T;T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89;0.89	5.87	5.87	0.94306	Rho GTPase-activating protein domain (1);Rho GTPase activation protein (1);	0.045544	0.85682	D	0.000000	T	0.48874	0.1524	N	0.14661	0.345	0.43394	D	0.995515	D;D	0.76494	0.999;0.998	D;D	0.74023	0.952;0.982	T	0.56986	-0.7888	10	0.87932	D	0	-9.9548	16.27	0.82612	0.0:0.0:0.0:1.0	.	20;20	Q9NYF5-2;Q9NYF5	.;FA13B_HUMAN	M	20	ENSP00000033079:I20M;ENSP00000388521:I20M;ENSP00000425326:I20M;ENSP00000424785:I20M;ENSP00000422311:I20M;ENSP00000426863:I20M;ENSP00000422673:I20M	ENSP00000033079:I20M	I	-	3	3	FAM13B	137382640	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.908000	0.56355	2.248000	0.74166	0.533000	0.62120	ATA		0.448	FAM13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251279.1			C	137354741	T	C	137354741	3	2	673	1	0	0	0	0	1	0	0	0	5455	1396	49	3	2841	3	FAM13B	5	137354741	Missense_Mutation	SNP	T	TCGA-HE-A5NH-01A-11D-A26P-10	5266147	137354741	43560519	24	36986											
C6orf146	222826	hgsc.bcm.edu	37	6	4069042	4069042	+	Missense_Mutation	SNP	A	A	G			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr6:4069042A>G	ENST00000274673.3	-	7	1818	c.1415T>C	c.(1414-1416)cTt>cCt	p.L472P	FAM217A_ENST00000380188.2_5'UTR	NM_173563.2	NP_775834.2	Q8IXS0	F217A_HUMAN	family with sequence similarity 217, member A	472																	TTGTCGGTAAAGTTTCTTTTT	0.403																																																0													87	92	90					6																	4069042		2203	4300	6503	SO:0001583	missense	222826			BC039349	CCDS4489.1	6p25.1	2012-02-07	2012-02-07	2012-02-07	ENSG00000145975	ENSG00000145975			21362	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 146"	C6orf146			Standard	NM_173563		Approved	MGC43581	uc003mvx.3	Q8IXS0	OTTHUMG00000014159	ENST00000274673.3:c.1415T>C	chr6.hg19:g.4069042A>G	ENSP00000274673:p.Leu472Pro		Q5JYK1	Missense_Mutation	SNP	ENST00000274673.3	hg19	CCDS4489.1	.	.	.	.	.	.	.	.	.	.	A	9.632	1.136613	0.21123	.	.	ENSG00000145975	ENST00000274673;ENST00000538080	T	0.19806	2.12	4.94	1.19	0.21007	.	0.439613	0.19414	N	0.114873	T	0.04724	0.0128	L	0.27053	0.805	0.38087	D	0.936832	B	0.22683	0.073	B	0.25884	0.064	T	0.21586	-1.0241	10	0.45353	T	0.12	.	3.9837	0.09506	0.6123:0.1915:0.1961:0.0	.	472	Q8IXS0	CF146_HUMAN	P	472;319	ENSP00000274673:L472P	ENSP00000274673:L472P	L	-	2	0	C6orf146	4014041	0.583000	0.26757	0.264000	0.24511	0.732000	0.41865	1.295000	0.33377	0.055000	0.16094	0.477000	0.44152	CTT		0.403	FAM217A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352577.2	NM_173563		G	4069042	A	G	4069042	3	3	673	1	0	0	0	0	1	0	0	0	2337	72	3	3	115	3	C6orf146	6	4069042	Missense_Mutation	SNP	A	TCGA-HE-A5NH-01A-11D-A26P-10		4069042	167046025	25	36987											
MYLIP	29116	hgsc.bcm.edu	37	6	16143330	16143330	+	Missense_Mutation	SNP	A	A	G			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr6:16143330A>G	ENST00000356840.3	+	4	742	c.544A>G	c.(544-546)Atg>Gtg	p.M182V	MYLIP_ENST00000349606.4_Start_Codon_SNP_p.M1V|MIR4639_ENST00000584938.1_RNA	NM_013262.3	NP_037394.2	Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	182	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cellular component movement (GO:0006928)|cholesterol homeostasis (GO:0042632)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|nervous system development (GO:0007399)|positive regulation of protein catabolic process (GO:0045732)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	cytoskeletal protein binding (GO:0008092)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			TGTGTCGGCAATGGAAAACTA	0.473																																																0													130	122	125					6																	16143330		2203	4300	6503	SO:0001583	missense	29116			AF187016	CCDS4536.1	6p23-p22.3	2011-11-17			ENSG00000007944	ENSG00000007944			21155	protein-coding gene	gene with protein product	"E3 ubiquitin ligase-inducible degrader of the low density lipoprotein receptor"	610082				10593918, 11162443, 19688294	Standard	NM_013262		Approved	MIR, IDOL	uc003nbq.3	Q8WY64	OTTHUMG00000016405	ENST00000356840.3:c.544A>G	chr6.hg19:g.16143330A>G	ENSP00000349298:p.Met182Val		Q5TIA4|Q9BU73|Q9NRL9|Q9UHE7	Missense_Mutation	SNP	ENST00000356840.3	hg19	CCDS4536.1	.	.	.	.	.	.	.	.	.	.	A	11.61	1.689703	0.29962	.	.	ENSG00000007944	ENST00000356840;ENST00000349606	T;T	0.76839	-1.05;1.32	5.57	5.57	0.84162	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.135191	0.64402	D	0.000002	T	0.57548	0.2061	L	0.38175	1.15	0.80722	D	1	B	0.10296	0.003	B	0.11329	0.006	T	0.63125	-0.6707	10	0.87932	D	0	.	11.5381	0.50651	0.7336:0.2664:0.0:0.0	.	182	Q8WY64	MYLIP_HUMAN	V	182;1	ENSP00000349298:M182V;ENSP00000008686:M1V	ENSP00000008686:M1V	M	+	1	0	MYLIP	16251309	0.995000	0.38212	0.927000	0.36925	0.499000	0.33736	3.374000	0.52402	2.230000	0.72887	0.533000	0.62120	ATG		0.473	MYLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043864.1	NM_013262		G	16143330	A	G	16143330	3	3	673	1	0	0	0	0	1	0	0	0	10057	101	4	3	558	3	MYLIP	6	16143330	Missense_Mutation	SNP	A	TCGA-HE-A5NH-01A-11D-A26P-10	12074288	16143330	154971737	26	36988											
SLC17A1	6568	hgsc.bcm.edu	37	6	25811999	25811999	+	Splice_Site	SNP	C	C	T			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr6:25811999C>T	ENST00000244527.4	-	9	1013		c.e9-1		SLC17A1_ENST00000468082.1_Splice_Site|SLC17A1_ENST00000427328.1_Splice_Site|SLC17A1_ENST00000476801.1_Splice_Site	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1						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						AGAACCCATTCTGAAGAGGAA	0.403																																																0													87	79	82					6																	25811999		2203	4300	6503	SO:0001630	splice_region_variant	6568				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.898-1G>A	chr6.hg19:g.25811999C>T			A8K418|O60761|Q13783|Q3MIP5|Q5MJP8|Q5TB83|Q96KL8	Splice_Site	SNP	ENST00000244527.4	hg19	CCDS4565.1	.	.	.	.	.	.	.	.	.	.	C	7.361	0.624846	0.14193	.	.	ENSG00000124568	ENST00000244527;ENST00000427328;ENST00000476801;ENST00000468082	.	.	.	3.38	3.38	0.38709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.5584	0.45131	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC17A1	25919978	1.000000	0.71417	0.946000	0.38457	0.079000	0.17450	4.214000	0.58527	2.191000	0.70037	0.650000	0.86243	.		0.403	SLC17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043647.2		Intron	T	25811999	C	T	25811999	5	4	673	1	0	0	0	0	0	0	1	0	14422	927	32	2	522	2	SLC17A1	6	25811999	Splice_Site	SNP	C	TCGA-HE-A5NH-01A-11D-A26P-10	9668669	25811999	145303068	27	36989											
GCLC	2729	hgsc.bcm.edu	37	6	53370243	53370243	+	Missense_Mutation	SNP	G	G	C			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr6:53370243G>C	ENST00000229416.6	-	12	1825	c.1342C>G	c.(1342-1344)Ctc>Gtc	p.L448V	RP1-27K12.4_ENST00000508884.1_RNA	NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	448					apoptotic mitochondrial changes (GO:0008637)|cell redox homeostasis (GO:0045454)|cellular nitrogen compound metabolic process (GO:0034641)|cysteine metabolic process (GO:0006534)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|L-ascorbic acid metabolic process (GO:0019852)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|regulation of blood vessel size (GO:0050880)|regulation of mitochondrial depolarization (GO:0051900)|response to arsenic-containing substance (GO:0046685)|response to heat (GO:0009408)|response to hormone (GO:0009725)|response to nitrosative stress (GO:0051409)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|glutamate-cysteine ligase complex (GO:0017109)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|coenzyme binding (GO:0050662)|glutamate binding (GO:0016595)|glutamate-cysteine ligase activity (GO:0004357)|magnesium ion binding (GO:0000287)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|Vitamin E(DB00163)	ACTCTGGTGAGCAGTACCACA	0.403																																																0													98	90	93					6																	53370243		2203	4300	6503	SO:0001583	missense	2729			M90656	CCDS4952.1, CCDS75471.1	6p12	2008-02-05				ENSG00000001084	6.3.2.2		4311	protein-coding gene	gene with protein product		606857		GLCLC, GLCL		1350904	Standard	NM_001498		Approved	GCS	uc003pbw.2	P48506		ENST00000229416.6:c.1342C>G	chr6.hg19:g.53370243G>C	ENSP00000229416:p.Leu448Val		Q14399	Missense_Mutation	SNP	ENST00000229416.6	hg19	CCDS4952.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.15|17.15	3.315237|3.315237	0.60524|0.60524	.|.	.|.	ENSG00000001084|ENSG00000001084	ENST00000514373|ENST00000229416	.|T	.|0.77358	.|-1.09	5.94|5.94	5.94|5.94	0.96194|0.96194	.|.	.|0.055897	.|0.85682	.|D	.|0.000000	T|T	0.71787|0.71787	0.3381|0.3381	M|M	0.66297|0.66297	2.02|2.02	0.80722|0.80722	D|D	1|1	.|B	.|0.18968	.|0.032	.|B	.|0.22152	.|0.038	T|T	0.66779|0.66779	-0.5837|-0.5837	5|10	.|0.42905	.|T	.|0.14	.|.	20.3594|20.3594	0.98849|0.98849	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|448	.|P48506	.|GSH1_HUMAN	W|V	49|448	.|ENSP00000229416:L448V	.|ENSP00000229416:L448V	C|L	-|-	3|1	2|0	GCLC|GCLC	53478202|53478202	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.830000|0.830000	0.47004|0.47004	8.018000|8.018000	0.88722|0.88722	2.816000|2.816000	0.96949|0.96949	0.563000|0.563000	0.77884|0.77884	TGC|CTC		0.403	GCLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359710.2			C	53370243	G	C	53370243	3	2	673	1	0	0	0	0	1	0	0	0	6297	971	34	4	591	4	GCLC	6	53370243	Missense_Mutation	SNP	G	TCGA-HE-A5NH-01A-11D-A26P-10	27558244	53370243	117744824	28	36990											
C6orf162	57150	hgsc.bcm.edu	37	6	88046811	88046811	+	Missense_Mutation	SNP	A	A	C			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr6:88046811A>C	ENST00000392863.1	+	3	151	c.62A>C	c.(61-63)cAa>cCa	p.Q21P	SMIM8_ENST00000608353.1_Missense_Mutation_p.Q21P|SMIM8_ENST00000608868.1_Missense_Mutation_p.Q21P|SMIM8_ENST00000608525.1_Missense_Mutation_p.Q21P|RP1-102H19.8_ENST00000448282.2_Missense_Mutation_p.Q21P|SMIM8_ENST00000229570.5_Missense_Mutation_p.Q21P	NM_001042493.1	NP_001035958.1	Q96KF7	SMIM8_HUMAN	small integral membrane protein 8	21						integral component of membrane (GO:0016021)											AAAGAGTTTCAAAGCCCAGGG	0.398																																																0													89	91	90					6																	88046811		2203	4300	6503	SO:0001583	missense	57150			AL050201	CCDS34496.1, CCDS75493.1	6q15	2013-06-21	2012-11-20	2012-11-20	ENSG00000111850	ENSG00000111850			21401	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 162"	C6orf162			Standard	NM_001287445		Approved	DKFZP586E1923, dJ102H19.2	uc003plq.1	Q96KF7	OTTHUMG00000015168	ENST00000392863.1:c.62A>C	chr6.hg19:g.88046811A>C	ENSP00000376603:p.Gln21Pro		B2R4V6|E1P505|Q5TEZ3|Q6NSD2|Q8IZ10	Missense_Mutation	SNP	ENST00000392863.1	hg19	CCDS34496.1	.	.	.	.	.	.	.	.	.	.	A	12.70	2.015538	0.35511	.	.	ENSG00000111850	ENST00000392863;ENST00000229570	.	.	.	5.69	-0.263	0.12954	.	0.368122	0.29501	N	0.011965	T	0.08044	0.0201	.	.	.	0.25064	N	0.991047	B	0.02656	0.0	B	0.04013	0.001	T	0.35475	-0.9787	8	0.25106	T	0.35	0.3915	5.1987	0.15252	0.2411:0.3105:0.4483:0.0	.	21	Q96KF7	CF162_HUMAN	P	21	.	ENSP00000229570:Q21P	Q	+	2	0	C6orf162	88103530	0.489000	0.26004	0.812000	0.32479	0.823000	0.46562	0.679000	0.25291	-0.373000	0.07979	0.533000	0.62120	CAA		0.398	SMIM8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472479.2	NM_020425		C	88046811	A	C	88046811	3	2	673	1	0	0	0	0	1	0	0	0	2342	130	5	5	64	5	C6orf162	6	88046811	Missense_Mutation	SNP	A	TCGA-HE-A5NH-01A-11D-A26P-10	34676568	88046811	83068256	29	36991											
MET	4233	hgsc.bcm.edu	37	7	116411633	116411634	+	In_Frame_Ins	INS	-	-	TTGTCTCAATATCAACAGCACTGTTATTACTACTTGGGT			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr7:116411633_116411634insTTGTCTCAATATCAACAGCACTGTTATTACTACTTGGGT	ENST00000318493.6	+	13	3053_3054	c.2866_2867insTTGTCTCAATATCAACAGCACTGTTATTACTACTTGGGT	c.(2866-2868)gtt>gTTGTCTCAATATCAACAGCACTGTTATTACTACTTGGGTtt	p.969_970insVSISTALLLLLGF	MET_ENST00000397752.3_In_Frame_Ins_p.951_952insVSISTALLLLLGF			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)			GATTGCTGGTGTTGTCTCAATA	0.347			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																														Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	0																																										SO:0001652	inframe_insertion	4233	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	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.2867_2905dupTTGTCTCAATATCAACAGCACTGTTATTACTACTTGGGT	chr7.hg19:g.116411633_116411634insTTGTCTCAATATCAACAGCACTGTTATTACTACTTGGGT	ENSP00000317272:p.Val957_Phe969dup		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	In_Frame_Ins	INS	ENST00000318493.6	hg19	CCDS47689.1																																																																																				0.347	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			TTGTCTCAATATCAACAGCACTGTTATTACTACTTGGGT	116411634	-	TTGTCTCAATATCAACAGCACTGTTATTACTACTTGGGT	116411633	7	5	673	1	0	1	1	0	0	0	0	0	9487	1377	48	0	2912	0	MET	7	116411633	In_Frame_Ins	INS	-	TCGA-HE-A5NH-01A-11D-A26P-10		116411633	42727030	30	36992											
MET	4233	hgsc.bcm.edu	37	7	116411675	116411675	+	Missense_Mutation	SNP	T	T	G			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr7:116411675T>G	ENST00000318493.6	+	13	3095	c.2908T>G	c.(2908-2910)Ttc>Gtc	p.F970V	MET_ENST00000397752.3_Missense_Mutation_p.F952V			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)			ACTTGGGTTTTTCCTGTGGCT	0.348			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																														Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	0													117	110	112					7																	116411675		1845	4085	5930	SO:0001583	missense	4233	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	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.2908T>G	chr7.hg19:g.116411675T>G	ENSP00000317272:p.Phe970Val		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	hg19	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	T	13.91	2.377141	0.42105	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000454623	T;T	0.72167	-0.63;-0.63	5.76	5.76	0.90799	.	0.096961	0.64402	D	0.000001	T	0.67420	0.2891	M	0.73598	2.24	0.80722	D	1	P;B	0.38129	0.619;0.349	B;B	0.35510	0.204;0.185	T	0.67428	-0.5673	10	0.31617	T	0.26	.	10.6767	0.45789	0.0:0.0713:0.0:0.9287	.	970;952	P08581-2;P08581	.;MET_HUMAN	V	952;970;84	ENSP00000380860:F952V;ENSP00000317272:F970V	ENSP00000317272:F970V	F	+	1	0	MET	116198911	1.000000	0.71417	0.999000	0.59377	0.905000	0.53344	2.954000	0.49113	2.324000	0.78689	0.533000	0.62120	TTC		0.348	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			G	116411675	T	G	116411675	3	3	673	1	0	0	0	0	1	0	0	0	9487	1841	64	5	2954	5	MET	7	116411675	Missense_Mutation	SNP	T	TCGA-HE-A5NH-01A-11D-A26P-10	42	116411675	42726988	31	36993											
PLXNA4	91584	hgsc.bcm.edu	37	7	131859582	131859583	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr7:131859582_131859583insAA	ENST00000359827.3	-	21	4933_4934	c.3971_3972insTT	c.(3970-3972)gtgfs	p.V1324fs	PLXNA4_ENST00000321063.4_Frame_Shift_Ins_p.V1324fs			Q9HCM2	PLXA4_HUMAN	plexin A4	1324					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						CTGGGAACAGCACCCGCATGGT	0.569																																																0																																										SO:0001589	frameshift_variant	91584			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.3971_3972insTT	chr7.hg19:g.131859582_131859583insAA	ENSP00000352882:p.Val1324fs		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Frame_Shift_Ins	INS	ENST00000359827.3	hg19	CCDS43646.1																																																																																				0.569	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		AA	131859583	-	AA	131859582	7	5	673	1	0	1	1	0	0	0	0	0	12124	697	25	0	1760	0	PLXNA4	7	131859582	Frame_Shift_Ins	INS	-	TCGA-HE-A5NH-01A-11D-A26P-10	15447907	131859582	27279081	32	36994											
FAM86B2	653333	hgsc.bcm.edu	37	8	12291589	12291590	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr8:12291589_12291590insA	ENST00000262365.4	-	2	129_130	c.130_131insT	c.(130-132)tctfs	p.S44fs	FAM86B2_ENST00000309608.5_Frame_Shift_Ins_p.S44fs|FAM86B2_ENST00000351291.4_Frame_Shift_Ins_p.S44fs|FAM86B2_ENST00000393715.3_Intron	NM_001137610.1	NP_001131082.1	P0C5J1	F86B2_HUMAN	family with sequence similarity 86, member B2	44										endometrium(1)|kidney(2)	3						CAGCAGCTCAGAATCTGATGAG	0.48																																																0																																										SO:0001589	frameshift_variant	653333				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.131dupT	chr8.hg19:g.12291591_12291591dupA	ENSP00000262365:p.Ser44fs			Frame_Shift_Ins	INS	ENST00000262365.4	hg19	CCDS59092.1																																																																																				0.48	FAM86B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_928336		A	12291590	-	A	12291589	7	5	673	1	0	1	1	0	0	0	0	0	5647	942	33	0	889	0	FAM86B2	8	12291589	Frame_Shift_Ins	INS	-	TCGA-HE-A5NH-01A-11D-A26P-10		12291589	134072433	33	36995											
MTUS1	57509	hgsc.bcm.edu	37	8	17579357	17579357	+	Intron	SNP	T	T	A			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr8:17579357T>A	ENST00000262102.6	-	4	2674				MTUS1_ENST00000519263.1_Intron|MTUS1_ENST00000381861.3_Missense_Mutation_p.K18N|MTUS1_ENST00000381869.3_Intron|MTUS1_ENST00000544260.1_Intron	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1						cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		TGATAAAGATTTTTGAAGAAA	0.428																																																0													86	86	86					8																	17579357		1840	4094	5934	SO:0001627	intron_variant	57509			AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"AT2 receptor-interacting protein", "AT2R binding protein", "mitochondrial tumor suppressor gene 1"	609589	"mitochondrial tumor suppressor 1"			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.2449+1823A>T	chr8.hg19:g.17579357T>A			A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Missense_Mutation	SNP	ENST00000262102.6	hg19	CCDS43717.1	.	.	.	.	.	.	.	.	.	.	T	13.03	2.116072	0.37339	.	.	ENSG00000129422	ENST00000381861	T	0.15487	2.42	5.48	1.4	0.22301	.	.	.	.	.	T	0.07234	0.0183	.	.	.	0.23602	N	0.997312	B	0.09022	0.002	B	0.11329	0.006	T	0.39860	-0.9593	8	0.16896	T	0.51	.	0.4383	0.00482	0.2369:0.2954:0.15:0.3178	.	18	Q9ULD2-6	.	N	18	ENSP00000371285:K18N	ENSP00000371285:K18N	K	-	3	2	MTUS1	17623637	0.479000	0.25925	0.804000	0.32291	0.992000	0.81027	0.640000	0.24705	0.443000	0.26582	0.533000	0.62120	AAA		0.428	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031		A	17579357	T	A	17579357	1	1	673	0	1	0	0	0	0	0	0	0	9967	1838	64	5		5	MTUS1	8	17579357	Intron	SNP	T	TCGA-HE-A5NH-01A-11D-A26P-10	5287768	17579357	128784665	34	36996											
LPL	4023	hgsc.bcm.edu	37	8	19811710	19811710	+	Silent	SNP	C	C	T	rs118204076		TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr8:19811710C>T	ENST00000311322.8	+	5	1091	c.621C>T	c.(619-621)gaC>gaT	p.D207D		NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	207			D -> E (in LPL deficiency). {ECO:0000269|PubMed:8288243}.		chylomicron remodeling (GO:0034371)|fatty acid biosynthetic process (GO:0006633)|lipoprotein metabolic process (GO:0042157)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of sequestering of triglyceride (GO:0010890)|response to cold (GO:0009409)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle remodeling (GO:0034372)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phospholipase activity (GO:0004620)|receptor binding (GO:0005102)|triglyceride binding (GO:0017129)|triglyceride lipase activity (GO:0004806)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	AST-120(DB05269)|Tyloxapol(DB06439)	ATTTTGTAGACGTCTTACACA	0.483																																																0			GRCh37	CM930483	LPL	M	rs118204076						139	134	135					8																	19811710		2203	4300	6503	SO:0001819	synonymous_variant	4023				CCDS6012.1	8p22	2012-10-02			ENSG00000175445	ENSG00000175445	3.1.1.34		6677	protein-coding gene	gene with protein product		609708		LIPD			Standard	NM_000237		Approved		uc003wzk.4	P06858	OTTHUMG00000036645	ENST00000311322.8:c.621C>T	chr8.hg19:g.19811710C>T			B2R5T9|Q16282|Q16283|Q96FC4	Silent	SNP	ENST00000311322.8	hg19	CCDS6012.1																																																																																				0.483	LPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089113.3			T	19811710	C	T	19811710	2	4	673	1	0	0	0	0	0	0	0	1	8923	535	19	1		1	LPL	8	19811710	Silent	SNP	C	TCGA-HE-A5NH-01A-11D-A26P-10	2232353	19811710	126552312	35	36997											
PPP2R2A	5520	hgsc.bcm.edu	37	8	26211991	26211991	+	Missense_Mutation	SNP	T	T	C	rs373174942		TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr8:26211991T>C	ENST00000380737.3	+	4	517	c.188T>C	c.(187-189)aTc>aCc	p.I63T	PPP2R2A_ENST00000315985.7_Missense_Mutation_p.I73T	NM_002717.3	NP_002708.1	P63151	2ABA_HUMAN	protein phosphatase 2, regulatory subunit B, alpha	63					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)		TAGAACAAAATCCAGTCTCAT	0.318																																																0								T	THR/ILE,THR/ILE	0,4406		0,0,2203	70	73	72		218,188	4.8	1	8		72	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	PPP2R2A	NM_001177591.1,NM_002717.3	89,89	0,1,6501	CC,CT,TT		0.0116,0.0,0.0077	,	73/458,63/448	26211991	1,13003	2203	4299	6502	SO:0001583	missense	5520			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.188T>C	chr8.hg19:g.26211991T>C	ENSP00000370113:p.Ile63Thr		B2RBU8|B4E1T7|P50409|Q00007	Missense_Mutation	SNP	ENST00000380737.3	hg19	CCDS34867.1	.	.	.	.	.	.	.	.	.	.	T	6.035	0.374882	0.11409	0.0	1.16E-4	ENSG00000221914	ENST00000380737;ENST00000315985	T;T	0.29142	1.59;1.58	5.97	4.84	0.62591	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.287722	0.32204	U	0.006432	T	0.08358	0.0208	N	0.01576	-0.805	0.37304	D	0.908831	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.28522	-1.0041	10	0.09843	T	0.71	-14.6536	2.6676	0.05057	0.0:0.1705:0.291:0.5384	.	73;63	B4E1T7;P63151	.;2ABA_HUMAN	T	63;73	ENSP00000370113:I63T;ENSP00000325074:I73T	ENSP00000325074:I73T	I	+	2	0	PPP2R2A	26267908	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.834000	0.39171	2.285000	0.76669	0.528000	0.53228	ATC		0.318	PPP2R2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375954.2	NM_002717		C	26211991	T	C	26211991	3	2	673	1	0	0	0	0	1	0	0	0	12389	1435	50	3	243	3	PPP2R2A	8	26211991	Missense_Mutation	SNP	T	TCGA-HE-A5NH-01A-11D-A26P-10	6400281	26211991	120152031	36	36998											
ASPH	444	hgsc.bcm.edu	37	8	62460750	62460750	+	Silent	SNP	C	C	T			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr8:62460750C>T	ENST00000379454.4	-	21	1831	c.1644G>A	c.(1642-1644)gaG>gaA	p.E548E	ASPH_ENST00000541428.1_Silent_p.E519E	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	548					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)	p.E548E(1)		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)	TGTGCCCAAGCTCATACCACT	0.403																																																1	Substitution - coding silent(1)	large_intestine(1)											119	102	108					8																	62460750		2203	4300	6503	SO:0001819	synonymous_variant	444			AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"junctin", "humbug", "junctate"	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.1644G>A	chr8.hg19:g.62460750C>T			A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Silent	SNP	ENST00000379454.4	hg19	CCDS34898.1																																																																																				0.403	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378510.3	NM_004318		T	62460750	C	T	62460750	2	4	673	1	0	0	0	0	0	0	0	1	1053	796	28	2		2	ASPH	8	62460750	Silent	SNP	C	TCGA-HE-A5NH-01A-11D-A26P-10	36248759	62460750	83903272	37	36999											
WWP1	11059	hgsc.bcm.edu	37	8	87460401	87460401	+	Missense_Mutation	SNP	G	G	T			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr8:87460401G>T	ENST00000517970.1	+	19	2330	c.2023G>T	c.(2023-2025)Gat>Tat	p.D675Y	WWP1_ENST00000349423.2_Missense_Mutation_p.D457Y|WWP1_ENST00000265428.4_Missense_Mutation_p.D675Y|WWP1_ENST00000341922.2_Missense_Mutation_p.D545Y	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	675	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				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						AAAGTTTATCGATACTGGTTT	0.254																																																0													44	45	45					8																	87460401		2198	4275	6473	SO:0001583	missense	11059			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.2023G>T	chr8.hg19:g.87460401G>T	ENSP00000427793:p.Asp675Tyr		O00307|Q5YLC1|Q96BP4	Missense_Mutation	SNP	ENST00000517970.1	hg19	CCDS6242.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.3|20.3	3.975526|3.975526	0.74360|0.74360	.|.	.|.	ENSG00000123124|ENSG00000123124	ENST00000517970;ENST00000265428;ENST00000341922;ENST00000349423|ENST00000520453	T;T;T;T|.	0.53206|.	0.63;0.63;0.63;0.63|.	5.05|5.05	5.05|5.05	0.67936|0.67936	HECT (4);|.	0.098860|.	0.64402|.	D|.	0.000002|.	T|T	0.75664|0.75664	0.3880|0.3880	M|M	0.71871|0.71871	2.18|2.18	0.80722|0.80722	D|D	1|1	P;D|.	0.89917|.	0.861;1.0|.	P;D|.	0.85130|.	0.489;0.997|.	T|T	0.75230|0.75230	-0.3391|-0.3391	10|5	0.36615|.	T|.	0.2|.	.|.	18.7714|18.7714	0.91893|0.91893	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	457;675|.	Q9H0M0-6;Q9H0M0|.	.;WWP1_HUMAN|.	Y|L	675;675;545;457|175	ENSP00000427793:D675Y;ENSP00000265428:D675Y;ENSP00000340564:D545Y;ENSP00000342665:D457Y|.	ENSP00000265428:D675Y|.	D|R	+|+	1|2	0|0	WWP1|WWP1	87529517|87529517	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.813000|9.813000	0.99286|0.99286	2.510000|2.510000	0.84645|0.84645	0.655000|0.655000	0.94253|0.94253	GAT|CGA		0.254	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374755.1	NM_007013		T	87460401	G	T	87460401	3	4	673	1	0	0	0	0	1	0	0	0	17420	1058	37	4	2089	4	WWP1	8	87460401	Missense_Mutation	SNP	G	TCGA-HE-A5NH-01A-11D-A26P-10	24999651	87460401	58903621	38	37000											
FOXD4L3	286380	hgsc.bcm.edu	37	9	70919081	70919082	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10	GG	GG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr9:70919081_70919082delGG	ENST00000342833.2	+	1	1806_1807	c.1214_1215delGG	c.(1213-1215)cggfs	p.R405fs		NM_199135.4	NP_954586.4	Q6VB84	FX4L3_HUMAN	forkhead box D4-like 3	405						nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			ovary(1)	1				all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		CCAAGGGCGCGGTGCTGGGCGG	0.668																																																0																																										SO:0001589	frameshift_variant	286380			AY344642	CCDS43833.1	9q13	2008-05-13				ENSG00000187559			18523	protein-coding gene	gene with protein product		611086				12421752	Standard	NM_199135		Approved	OTTHUMG00000019959, FOXD6	uc004agm.1	Q6VB84	OTTHUMG00000019959	ENST00000342833.2:c.1214_1215delGG	chr9.hg19:g.70919081_70919082delGG	ENSP00000341961:p.Arg405fs		Q5JTX9	Frame_Shift_Del	DEL	ENST00000342833.2	hg19	CCDS43833.1																																																																																				0.668	FOXD4L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052539.2	NM_199358		-	70919082	GG	-	70919081	7	5	673	1	0	1	0	1	0	0	0	0	6003	1116	39	0	1216	0	FOXD4L3	9	70919081	Frame_Shift_Del	DEL	GG	TCGA-HE-A5NH-01A-11D-A26P-10		70919081	70294350	39	37001											
ODF2	4957	hgsc.bcm.edu	37	9	131256869	131256869	+	Silent	SNP	T	T	C			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr9:131256869T>C	ENST00000434106.3	+	17	2196	c.1833T>C	c.(1831-1833)gcT>gcC	p.A611A	ODF2_ENST00000372814.3_Silent_p.A655A|ODF2_ENST00000372791.3_Silent_p.A592A|ODF2_ENST00000393527.3_Silent_p.A587A|ODF2_ENST00000372807.5_Silent_p.A606A|ODF2_ENST00000448249.3_Silent_p.A530A|ODF2_ENST00000604420.1_Silent_p.A611A|ODF2_ENST00000444119.2_Silent_p.A587A|ODF2_ENST00000393533.2_Silent_p.A611A|ODF2_ENST00000546203.1_Silent_p.A592A|ODF2_ENST00000351030.3_Silent_p.A606A	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	611					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						CGAAGCTGGCTGAGTGCCAAG	0.572																																																0													74	64	68					9																	131256869		2203	4300	6503	SO:0001819	synonymous_variant	4957			AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"cancer/testis antigen 134"	602015	"outer dense fibre of sperm tails 2"			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.1833T>C	chr9.hg19:g.131256869T>C			B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Silent	SNP	ENST00000434106.3	hg19	CCDS56588.1																																																																																				0.572	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3			C	131256869	T	C	131256869	2	2	673	1	0	0	0	0	0	0	0	1	10829	1567	55	3		3	ODF2	9	131256869	Silent	SNP	T	TCGA-HE-A5NH-01A-11D-A26P-10	60337788	131256869	9956562	40	37002											
CUBN	8029	hgsc.bcm.edu	37	10	16941145	16941145	+	Missense_Mutation	SNP	G	G	C			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr10:16941145G>C	ENST00000377833.4	-	54	8513	c.8448C>G	c.(8446-8448)atC>atG	p.I2816M		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2816	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)	GAGGGGATCTGATTGTACCAT	0.403																																																0													118	112	114					10																	16941145		2203	4300	6503	SO:0001583	missense	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.8448C>G	chr10.hg19:g.16941145G>C	ENSP00000367064:p.Ile2816Met		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	hg19	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	9.641	1.139005	0.21123	.	.	ENSG00000107611	ENST00000377833	T	0.40476	1.03	5.63	0.557	0.17260	CUB (5);	0.137522	0.33057	N	0.005332	T	0.64494	0.2603	M	0.93150	3.385	0.80722	D	1	D	0.60160	0.987	P	0.62298	0.9	T	0.64782	-0.6326	10	0.66056	D	0.02	.	7.5405	0.27735	0.1201:0.0:0.4925:0.3874	.	2816	O60494	CUBN_HUMAN	M	2816	ENSP00000367064:I2816M	ENSP00000367064:I2816M	I	-	3	3	CUBN	16981151	1.000000	0.71417	0.001000	0.08648	0.014000	0.08584	3.071000	0.50041	-0.070000	0.12908	-0.940000	0.02684	ATC		0.403	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		C	16941145	G	C	16941145	3	2	673	1	0	0	0	0	1	0	0	0	4053	1280	45	4	2479	4	CUBN	10	16941145	Missense_Mutation	SNP	G	TCGA-HE-A5NH-01A-11D-A26P-10		16941145	118593602	41	37003											
JMJD1C	221037	hgsc.bcm.edu	37	10	64974605	64974605	+	Missense_Mutation	SNP	T	T	G			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr10:64974605T>G	ENST00000399262.2	-	8	1540	c.1322A>C	c.(1321-1323)aAa>aCa	p.K441T	JMJD1C_ENST00000489372.2_5'Flank|JMJD1C_ENST00000402544.1_Missense_Mutation_p.K222T|JMJD1C_ENST00000399251.1_Missense_Mutation_p.K222T|JMJD1C_ENST00000542921.1_Missense_Mutation_p.K259T	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	441					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)					TTCATGTTTTTTATCTTCCTG	0.388																																																0													148	131	136					10																	64974605		1826	4079	5905	SO:0001583	missense	221037			L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"thyroid hormone receptor interactor 8"	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.1322A>C	chr10.hg19:g.64974605T>G	ENSP00000382204:p.Lys441Thr		A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	hg19	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	T	17.31	3.356618	0.61293	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	T;T;T;T	0.55930	0.84;0.49;2.4;0.84	5.85	4.71	0.59529	.	0.256048	0.33290	U	0.005078	T	0.44159	0.1280	L	0.51422	1.61	0.44012	D	0.99672	P;P	0.39282	0.666;0.666	B;B	0.33339	0.162;0.115	T	0.51631	-0.8681	10	0.62326	D	0.03	-15.2085	12.0787	0.53659	0.0:0.0679:0.0:0.9321	.	441;259	Q15652;A0T124	JHD2C_HUMAN;.	T	441;222;222;259	ENSP00000382204:K441T;ENSP00000384990:K222T;ENSP00000382195:K222T;ENSP00000444682:K259T	ENSP00000382195:K222T	K	-	2	0	JMJD1C	64644611	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	2.933000	0.48948	2.237000	0.73441	0.459000	0.35465	AAA		0.388	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		G	64974605	T	G	64974605	3	3	673	1	0	0	0	0	1	0	0	0	7952	1841	64	5	6376	5	JMJD1C	10	64974605	Missense_Mutation	SNP	T	TCGA-HE-A5NH-01A-11D-A26P-10	48033460	64974605	70560142	42	37004											
LDB1	8861	hgsc.bcm.edu	37	10	103871028	103871028	+	Missense_Mutation	SNP	A	A	G			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr10:103871028A>G	ENST00000425280.1	-	3	500	c.158T>C	c.(157-159)cTg>cCg	p.L53P	LDB1_ENST00000490751.1_5'UTR|LDB1_ENST00000361198.5_Missense_Mutation_p.L17P	NM_001113407.1	NP_001106878.1	Q86U70	LDB1_HUMAN	LIM domain binding 1	53					anterior/posterior axis specification (GO:0009948)|cellular component assembly (GO:0022607)|cerebellar Purkinje cell differentiation (GO:0021702)|epithelial structure maintenance (GO:0010669)|gastrulation with mouth forming second (GO:0001702)|hair follicle development (GO:0001942)|head development (GO:0060322)|histone H3-K4 acetylation (GO:0043973)|multicellular organismal development (GO:0007275)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|positive regulation of cell adhesion (GO:0045785)|positive regulation of hemoglobin biosynthetic process (GO:0046985)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery (GO:0000972)|Wnt signaling pathway (GO:0016055)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|enzyme binding (GO:0019899)|LIM domain binding (GO:0030274)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		CCCTGGCTCCAGGTATGTAGG	0.577																																																0													98	98	98					10																	103871028		2203	4300	6503	SO:0001583	missense	8861			AF068652	CCDS7528.1, CCDS44472.1	10q24-q25	2008-08-01			ENSG00000198728	ENSG00000198728			6532	protein-coding gene	gene with protein product	"carboxy terminal LIM domain protein 2"	603451				9503020, 9799849	Standard	NM_003893		Approved	NLI, CLIM2	uc009xwz.3	Q86U70	OTTHUMG00000018950	ENST00000425280.1:c.158T>C	chr10.hg19:g.103871028A>G	ENSP00000392466:p.Leu53Pro		B4DUC4|O75479|O96010|Q1EQX1|Q9UGM4	Missense_Mutation	SNP	ENST00000425280.1	hg19	CCDS44472.1	.	.	.	.	.	.	.	.	.	.	A	16.53	3.149912	0.57151	.	.	ENSG00000198728	ENST00000361198;ENST00000425280	.	.	.	5.73	5.73	0.89815	.	0.148563	0.46442	D	0.000281	T	0.39733	0.1089	N	0.19112	0.55	0.80722	D	1	P;B	0.48407	0.91;0.0	B;B	0.41135	0.348;0.001	T	0.26503	-1.0101	9	0.31617	T	0.26	-13.3126	15.6898	0.77442	1.0:0.0:0.0:0.0	.	53;17	Q86U70;Q86U70-3	LDB1_HUMAN;.	P	17;53	.	ENSP00000354616:L17P	L	-	2	0	LDB1	103861018	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.008000	0.76341	2.199000	0.70637	0.459000	0.35465	CTG		0.577	LDB1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001113407		G	103871028	A	G	103871028	3	3	673	1	0	0	0	0	1	0	0	0	8697	188	7	3	1113	3	LDB1	10	103871028	Missense_Mutation	SNP	A	TCGA-HE-A5NH-01A-11D-A26P-10	38896423	103871028	31663719	43	37005											
FAM53B	9679	hgsc.bcm.edu	37	10	126311947	126311947	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr10:126311947G>A	ENST00000337318.3	-	5	1344	c.1133C>T	c.(1132-1134)tCa>tTa	p.S378L	FAM53B_ENST00000392754.3_Missense_Mutation_p.S378L|RP11-12J10.3_ENST00000494792.1_Intron	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	378										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		GCAGCTGTCTGACTCCTCACA	0.711																																																0													21	22	21					10																	126311947		2200	4294	6494	SO:0001583	missense	9679			D50930	CCDS7641.1	10q26.13	2004-11-24	2004-11-24	2004-11-24	ENSG00000189319	ENSG00000189319			28968	protein-coding gene	gene with protein product			"KIAA0140"	KIAA0140		8590280	Standard	NM_014661		Approved	bA12J10.2	uc001lhv.1	Q14153	OTTHUMG00000019215	ENST00000337318.3:c.1133C>T	chr10.hg19:g.126311947G>A	ENSP00000338532:p.Ser378Leu		D3DRF1|Q5VUW1|Q5VUW2|Q8N5S6	Missense_Mutation	SNP	ENST00000337318.3	hg19	CCDS7641.1	.	.	.	.	.	.	.	.	.	.	G	11.60	1.688447	0.29962	.	.	ENSG00000189319	ENST00000337318;ENST00000392754	.	.	.	4.78	3.86	0.44501	.	0.743799	0.11858	N	0.522697	T	0.30978	0.0782	L	0.34521	1.04	0.19945	N	0.999948	B	0.26809	0.16	B	0.31337	0.128	T	0.21793	-1.0235	9	0.06365	T	0.9	-7.9821	11.3285	0.49463	0.0:0.0:0.6724:0.3276	.	378	Q14153	FA53B_HUMAN	L	378	.	ENSP00000338532:S378L	S	-	2	0	FAM53B	126301937	0.742000	0.28228	0.299000	0.25016	0.686000	0.39977	2.551000	0.45820	1.213000	0.43380	0.655000	0.94253	TCA		0.711	FAM53B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050879.1	NM_014661		A	126311947	G	A	126311947	3	1	673	1	0	0	0	0	1	0	0	0	5582	1294	45	2	139	2	FAM53B	10	126311947	Missense_Mutation	SNP	G	TCGA-HE-A5NH-01A-11D-A26P-10	22440919	126311947	9222800	44	37006											
TRPM5	29850	hgsc.bcm.edu	37	11	2428360	2428360	+	Missense_Mutation	SNP	C	C	T			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr11:2428360C>T	ENST00000155858.6	-	20	3115	c.3107G>A	c.(3106-3108)cGg>cAg	p.R1036Q	TRPM5_ENST00000452833.1_Missense_Mutation_p.R1038Q|AC124057.5_ENST00000433035.1_RNA|TRPM5_ENST00000528453.1_Missense_Mutation_p.R1036Q|TRPM5_ENST00000533060.1_Missense_Mutation_p.R1036Q	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)		CAGGTGCTCCCGCTTGTGCTC	0.706																																					NSCLC(1;49 61 17205 18850 43201)											0													26	25	26					11																	2428360		2193	4288	6481	SO:0001583	missense	29850			AF177473	CCDS31340.1	11p15.5	2011-12-14			ENSG00000070985	ENSG00000070985		"Voltage-gated ion channels / Transient receptor potential cation channels"	14323	protein-coding gene	gene with protein product		604600				10607831, 16382100	Standard	NM_014555		Approved	LTRPC5, MTR1	uc001lwm.4	Q9NZQ8	OTTHUMG00000009896	ENST00000155858.6:c.3107G>A	chr11.hg19:g.2428360C>T	ENSP00000155858:p.Arg1036Gln			Missense_Mutation	SNP	ENST00000155858.6	hg19	CCDS31340.1	.	.	.	.	.	.	.	.	.	.	C	1.660	-0.511828	0.04200	.	.	ENSG00000070985	ENST00000533881;ENST00000155858;ENST00000452833;ENST00000533060;ENST00000528453	T;T;T;T;T	0.61627	0.27;0.21;0.21;0.09;0.21	3.21	1.21	0.21127	.	0.630612	0.15729	N	0.247507	T	0.33644	0.0870	N	0.15975	0.35	0.21553	N	0.999642	B;B;B	0.17465	0.022;0.022;0.006	B;B;B	0.13407	0.007;0.007;0.009	T	0.15065	-1.0450	10	0.25751	T	0.34	-7.4235	6.0447	0.19753	0.0:0.6066:0.0:0.3934	.	1036;1038;1036	E9PRW0;Q9NZQ8-2;Q9NZQ8	.;.;TRPM5_HUMAN	Q	1030;1036;1038;1036;1036	ENSP00000434383:R1030Q;ENSP00000155858:R1036Q;ENSP00000387965:R1038Q;ENSP00000434121:R1036Q;ENSP00000436809:R1036Q	ENSP00000155858:R1036Q	R	-	2	0	TRPM5	2384936	0.007000	0.16637	0.005000	0.12908	0.300000	0.27592	1.127000	0.31357	0.058000	0.16222	0.134000	0.15878	CGG		0.706	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000027378.1	NM_014555		T	2428360	C	T	2428360	3	4	673	1	0	0	0	0	1	0	0	0	16594	652	23	1	410	1	TRPM5	11	2428360	Missense_Mutation	SNP	C	TCGA-HE-A5NH-01A-11D-A26P-10		2428360	132578156	45	37007											
CALCB	797	hgsc.bcm.edu	37	11	15096663	15096663	+	Missense_Mutation	SNP	T	T	A			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr11:15096663T>A	ENST00000533448.1	+	3	254	c.143T>A	c.(142-144)cTc>cAc	p.L48H	CALCB_ENST00000523376.1_Missense_Mutation_p.L59H|CALCB_ENST00000324229.6_Missense_Mutation_p.L48H			P10092	CALCB_HUMAN	calcitonin-related polypeptide beta	48					cellular calcium ion homeostasis (GO:0006874)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)			endometrium(1)|large_intestine(1)|lung(1)|skin(2)	5						GACGCGCGCCTCCTGCTGGCT	0.627											OREG0020793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													58	61	60					11																	15096663		2200	4294	6494	SO:0001583	missense	797				CCDS7820.1	11p14.2-p12	2013-02-25	2008-02-20			ENSG00000175868		"Endogenous ligands"	1438	protein-coding gene	gene with protein product		114160	"calcitonin 2"	CALC2			Standard	NM_000728		Approved	FLJ30166, CGRP-II	uc001mlx.1	P10092		ENST00000533448.1:c.143T>A	chr11.hg19:g.15096663T>A	ENSP00000433490:p.Leu48His	700	A8K573|D3DQX4|Q569I0|Q9UCN9	Missense_Mutation	SNP	ENST00000533448.1	hg19	CCDS7820.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.370035	0.82573	.	.	ENSG00000175868	ENST00000523376;ENST00000324229;ENST00000533448	T;T;T	0.24151	1.87;1.87;1.87	5.4	3.0	0.34707	.	0.000000	0.46442	D	0.000284	T	0.28267	0.0698	M	0.81239	2.535	0.27438	N	0.953794	B	0.30686	0.29	B	0.32022	0.139	T	0.17077	-1.0381	10	0.44086	T	0.13	-26.0769	6.6446	0.22929	0.1187:0.0:0.3692:0.512	.	48	P10092	CALCB_HUMAN	H	59;48;48	ENSP00000428882:L59H;ENSP00000346017:L48H;ENSP00000433490:L48H	ENSP00000346017:L48H	L	+	2	0	CALCB	15053239	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.094000	0.64523	2.176000	0.68965	0.454000	0.30748	CTC		0.627	CALCB-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387433.1	NM_000728		A	15096663	T	A	15096663	3	1	673	1	0	0	0	0	1	0	0	0	2578	1551	54	5	149	5	CALCB	11	15096663	Missense_Mutation	SNP	T	TCGA-HE-A5NH-01A-11D-A26P-10	12668303	15096663	119909853	46	37008											
PIK3C2A	5286	hgsc.bcm.edu	37	11	17150900	17150900	+	Missense_Mutation	SNP	T	T	G			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr11:17150900T>G	ENST00000265970.7	-	12	2345	c.2346A>C	c.(2344-2346)agA>agC	p.R782S	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.R402S	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	782	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00041, ECO:0000255|PROSITE- ProRule:PRU00880}.				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						CTGGTCCCTTTCTCTGCTTAT	0.388																																																0													90	96	94					11																	17150900		2200	4293	6493	SO:0001583	missense	5286			Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"phosphoinositide-3-kinase, class 2, alpha polypeptide"			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.2346A>C	chr11.hg19:g.17150900T>G	ENSP00000265970:p.Arg782Ser		B0LPH2|B4E2G4|Q14CQ9	Missense_Mutation	SNP	ENST00000265970.7	hg19	CCDS7824.1	.	.	.	.	.	.	.	.	.	.	T	19.33	3.807327	0.70797	.	.	ENSG00000011405	ENST00000265970;ENST00000540361	T;T	0.77229	-1.08;-1.08	6.17	3.81	0.43845	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	D	0.82834	0.5123	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79967	-0.1580	10	0.33940	T	0.23	-23.3516	5.1651	0.15081	0.1256:0.1839:0.0:0.6905	.	782	O00443	P3C2A_HUMAN	S	782;402	ENSP00000265970:R782S;ENSP00000438687:R402S	ENSP00000265970:R782S	R	-	3	2	PIK3C2A	17107476	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.962000	0.29280	1.126000	0.42016	0.533000	0.62120	AGA		0.388	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645		G	17150900	T	G	17150900	3	3	673	1	0	0	0	0	1	0	0	0	11911	1780	62	5	2798	5	PIK3C2A	11	17150900	Missense_Mutation	SNP	T	TCGA-HE-A5NH-01A-11D-A26P-10	2054237	17150900	117855616	47	37009											
OR5AR1	219493	hgsc.bcm.edu	37	11	56432020	56432028	+	In_Frame_Del	DEL	CCCTTGATC	CCCTTGATC	-	rs139654321		TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10	CCCTTGATC	CCCTTGATC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr11:56432020_56432028delCCCTTGATC	ENST00000302969.2	+	1	883_891	c.859_867delCCCTTGATC	c.(859-867)cccttgatcdel	p.PLI287del		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	287						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						CATGTTAAATCCCTTGATCTACAGTTTGC	0.407																																																0																																										SO:0001651	inframe_deletion	219493			AB065740	CCDS31535.1	11q11	2013-10-10	2013-10-10		ENSG00000172459	ENSG00000172459		"GPCR / Class A : Olfactory receptors"	15260	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily AR, member 1"				Standard	NM_001004730		Approved		uc010rjm.2	Q8NGP9	OTTHUMG00000154213	ENST00000302969.2:c.859_867delCCCTTGATC	chr11.hg19:g.56432020_56432028delCCCTTGATC	ENSP00000302639:p.Pro287_Ile289del		Q6IF61	In_Frame_Del	DEL	ENST00000302969.2	hg19	CCDS31535.1																																																																																				0.407	OR5AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334434.1	NM_001004730		-	56432028	CCCTTGATC	-	56432020	7	5	673	1	0	1	0	1	0	0	0	0	11147	855	30	0	861	0	OR5AR1	11	56432020	In_Frame_Del	DEL	CCCTTGATC	TCGA-HE-A5NH-01A-11D-A26P-10	39281120	56432020	78574496	48	37010											
MOGAT2	80168	hgsc.bcm.edu	37	11	75431106	75431106	+	Missense_Mutation	SNP	C	C	A			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr11:75431106C>A	ENST00000198801.5	+	2	231	c.161C>A	c.(160-162)gCg>gAg	p.A54E	MOGAT2_ENST00000526712.1_5'UTR	NM_025098.2	NP_079374.2	Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	54					diacylglycerol biosynthetic process (GO:0006651)|glycerol metabolic process (GO:0006071)|intestinal absorption (GO:0050892)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|acetyltransferase activity (GO:0016407)			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					GTCCTGTATGCGGCCTGGTGG	0.567																																																0													175	164	168					11																	75431106		2200	4293	6493	SO:0001583	missense	80168			AY157608	CCDS8240.1	11q13.5	2008-02-05			ENSG00000166391	ENSG00000166391			23248	protein-coding gene	gene with protein product		610270				14970677	Standard	NM_025098		Approved	MGAT2, DGAT2L5, FLJ22644	uc010rru.2	Q3SYC2	OTTHUMG00000165341	ENST00000198801.5:c.161C>A	chr11.hg19:g.75431106C>A	ENSP00000198801:p.Ala54Glu		A8K7I3|Q3SYC1|Q6ZQZ2|Q86UH6|Q9H630	Missense_Mutation	SNP	ENST00000198801.5	hg19	CCDS8240.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.230712	0.58777	.	.	ENSG00000166391	ENST00000198801	T	0.15487	2.42	5.14	3.25	0.37280	.	0.175147	0.49916	D	0.000127	T	0.40595	0.1123	M	0.87180	2.865	0.37511	D	0.917131	D;D	0.67145	0.983;0.996	P;D	0.65233	0.815;0.933	T	0.47071	-0.9145	10	0.62326	D	0.03	.	8.4411	0.32816	0.0:0.6272:0.2933:0.0795	.	54;54	Q3SYC2;Q3SYC2-3	MOGT2_HUMAN;.	E	54	ENSP00000198801:A54E	ENSP00000198801:A54E	A	+	2	0	MOGAT2	75108754	0.114000	0.22134	0.003000	0.11579	0.143000	0.21401	2.008000	0.40893	0.732000	0.32470	-0.215000	0.12644	GCG		0.567	MOGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383520.1	NM_025098		A	75431106	C	A	75431106	3	1	673	1	0	0	0	0	1	0	0	0	9697	768	27	4	167	4	MOGAT2	11	75431106	Missense_Mutation	SNP	C	TCGA-HE-A5NH-01A-11D-A26P-10	18999086	75431106	59575410	49	37011											
ARCN1	372	hgsc.bcm.edu	37	11	118464375	118464375	+	Missense_Mutation	SNP	T	T	G	rs546784519		TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr11:118464375T>G	ENST00000264028.4	+	8	1298	c.1203T>G	c.(1201-1203)aaT>aaG	p.N401K	ARCN1_ENST00000392859.3_Missense_Mutation_p.N313K|ARCN1_ENST00000359415.4_Missense_Mutation_p.N442K|ARCN1_ENST00000534182.2_Intron|RNU6-1157P_ENST00000384456.1_RNA	NM_001655.4	NP_001646.2	P48444	COPD_HUMAN	archain 1	401	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer maturation (GO:0021691)|COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pigmentation (GO:0043473)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	clathrin adaptor complex (GO:0030131)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		AAGAAGATAATTTAGAACTGA	0.438													T|||	1	0.000199681	0.0	0.0	5008	,	,		20456	0.001		0.0	False		,,,				2504	0.0															0													118	100	106					11																	118464375		2200	4295	6495	SO:0001583	missense	372			X81197	CCDS8400.1, CCDS44749.1	11q23.3	2010-04-21	2003-01-29		ENSG00000095139	ENSG00000095139			649	protein-coding gene	gene with protein product		600820	"coatomer protein complex, subunit delta"	COPD		7782067, 8854871	Standard	NM_001655		Approved		uc001ptq.3	P48444	OTTHUMG00000166340	ENST00000264028.4:c.1203T>G	chr11.hg19:g.118464375T>G	ENSP00000264028:p.Asn401Lys		B4E1X2|E9PEU4|Q52M80	Missense_Mutation	SNP	ENST00000264028.4	hg19	CCDS8400.1	.	.	.	.	.	.	.	.	.	.	T	9.897	1.205804	0.22205	.	.	ENSG00000095139	ENST00000392859;ENST00000359415;ENST00000264028	T;T;T	0.17528	2.27;2.27;2.27	5.95	1.01	0.19927	Clathrin adaptor, mu subunit, C-terminal (3);	0.266986	0.47455	D	0.000229	T	0.10121	0.0248	L	0.29908	0.895	0.29104	N	0.881303	B;B;B	0.14438	0.003;0.01;0.002	B;B;B	0.17979	0.006;0.02;0.005	T	0.18085	-1.0348	10	0.30078	T	0.28	-13.078	5.5305	0.16983	0.0:0.491:0.1917:0.3174	.	313;442;401	E9PEU4;B0YIW6;P48444	.;.;COPD_HUMAN	K	313;442;401	ENSP00000376599:N313K;ENSP00000352385:N442K;ENSP00000264028:N401K	ENSP00000264028:N401K	N	+	3	2	ARCN1	117969585	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.769000	0.26604	0.173000	0.19788	0.460000	0.39030	AAT		0.438	ARCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389278.1			G	118464375	T	G	118464375	3	3	673	1	0	0	0	0	1	0	0	0	842	1490	52	5	1233	5	ARCN1	11	118464375	Missense_Mutation	SNP	T	TCGA-HE-A5NH-01A-11D-A26P-10	43033269	118464375	16542141	50	37012											
SORL1	6653	hgsc.bcm.edu	37	11	121475939	121475939	+	Missense_Mutation	SNP	T	T	G			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr11:121475939T>G	ENST00000260197.7	+	34	4898	c.4769T>G	c.(4768-4770)gTc>gGc	p.V1590G	SORL1_ENST00000527934.1_Missense_Mutation_p.V205G|SORL1_ENST00000532694.1_Missense_Mutation_p.V436G|SORL1_ENST00000525532.1_Missense_Mutation_p.V534G|SORL1_ENST00000534286.1_Missense_Mutation_p.V500G	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1590	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GTATATAATGTCTACTACAGG	0.443																																																0													121	119	120					11																	121475939		2203	4299	6502	SO:0001583	missense	6653			Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"Fibronectin type III domain containing"	11185	protein-coding gene	gene with protein product	"LDLR relative with 11 ligand-binding repeats"	602005	"chromosome 11 open reading frame 32", "sortilin-related receptor, L(DLR class) A repeats-containing"	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.4769T>G	chr11.hg19:g.121475939T>G	ENSP00000260197:p.Val1590Gly		B2RNX7|Q92856	Missense_Mutation	SNP	ENST00000260197.7	hg19	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	T	16.47	3.133710	0.56828	.	.	ENSG00000137642	ENST00000260197;ENST00000525532;ENST00000532694;ENST00000534286;ENST00000527934	T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37;-0.37	5.3	4.17	0.49024	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.537145	0.18359	N	0.143626	T	0.61185	0.2327	N	0.19112	0.55	0.51012	D	0.999904	P;P	0.51933	0.942;0.949	P;P	0.52386	0.697;0.659	T	0.60984	-0.7154	10	0.52906	T	0.07	.	10.8817	0.46942	0.0:0.0749:0.0:0.9251	.	205;1590	E9PKB0;Q92673	.;SORL_HUMAN	G	1590;534;436;500;205	ENSP00000260197:V1590G;ENSP00000434634:V534G;ENSP00000432131:V436G;ENSP00000436447:V500G;ENSP00000435405:V205G	ENSP00000260197:V1590G	V	+	2	0	SORL1	120981149	0.992000	0.36948	0.699000	0.30290	0.670000	0.39368	7.698000	0.84413	0.854000	0.35336	0.533000	0.62120	GTC		0.443	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		G	121475939	T	G	121475939	3	3	673	1	0	0	0	0	1	0	0	0	14940	1667	58	5	4903	5	SORL1	11	121475939	Missense_Mutation	SNP	T	TCGA-HE-A5NH-01A-11D-A26P-10	3011564	121475939	13530577	51	37013											
IGSF9B	22997	hgsc.bcm.edu	37	11	133789844	133789844	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr11:133789844G>A	ENST00000321016.8	-	18	4006	c.3776C>T	c.(3775-3777)tCc>tTc	p.S1259F	IGSF9B_ENST00000533871.2_Missense_Mutation_p.S1259F			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1259	Pro-rich.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GCTGCTCTGGGAGGGGGAGCC	0.687																																																0													19	25	23					11																	133789844		1888	4098	5986	SO:0001583	missense	22997			AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.3776C>T	chr11.hg19:g.133789844G>A	ENSP00000317980:p.Ser1259Phe		G5EA26	Missense_Mutation	SNP	ENST00000321016.8	hg19		.	.	.	.	.	.	.	.	.	.	G	10.57	1.386761	0.25031	.	.	ENSG00000080854	ENST00000321016;ENST00000533871	T;T	0.68479	-0.0;-0.33	5.29	4.38	0.52667	.	0.164446	0.29119	N	0.013091	T	0.47414	0.1444	N	0.08118	0	0.33398	D	0.577033	B	0.06786	0.001	B	0.04013	0.001	T	0.56402	-0.7985	10	0.66056	D	0.02	.	13.4086	0.60929	0.0768:0.0:0.9232:0.0	.	1259	Q9UPX0	TUTLB_HUMAN	F	1259;1101	ENSP00000317980:S1259F;ENSP00000436552:S1101F	ENSP00000317980:S1259F	S	-	2	0	IGSF9B	133295054	1.000000	0.71417	0.411000	0.26484	0.307000	0.27823	7.382000	0.79729	1.243000	0.43853	0.555000	0.69702	TCC		0.687	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		A	133789844	G	A	133789844	3	1	673	1	0	0	0	0	1	0	0	0	7608	1174	41	2	281	2	IGSF9B	11	133789844	Missense_Mutation	SNP	G	TCGA-HE-A5NH-01A-11D-A26P-10	12313905	133789844	1216672	52	37014											
ING4	51147	hgsc.bcm.edu	37	12	6760401	6760401	+	Splice_Site	SNP	C	C	T			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr12:6760401C>T	ENST00000396807.4	-	8	749		c.e8-1		ING4_ENST00000341550.4_Splice_Site|ING4_ENST00000444704.2_Splice_Site|ING4_ENST00000423703.2_Splice_Site|ING4_ENST00000446105.2_Splice_Site|ING4_ENST00000486287.1_Splice_Site|ING4_ENST00000412586.2_Splice_Site	NM_001127582.1|NM_001127585.1|NM_001127586.1|NM_016162.3	NP_001121054.1|NP_001121057.1|NP_001121058.1|NP_057246.2	Q9UNL4	ING4_HUMAN	inhibitor of growth family, member 4						apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|chromatin organization (GO:0006325)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|histone H4-K12 acetylation (GO:0043983)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|protein acetylation (GO:0006473)	histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			central_nervous_system(3)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	10						TGGGCAAAACCTGAAACAGAG	0.512																																																0													112	96	102					12																	6760401		2203	4300	6503	SO:0001630	splice_region_variant	51147			AF063594	CCDS8555.1, CCDS44812.1, CCDS44813.1, CCDS44814.1, CCDS44815.1, CCDS44816.1	12p13.32	2013-01-28			ENSG00000111653	ENSG00000111653		"Zinc fingers, PHD-type"	19423	protein-coding gene	gene with protein product		608524				12750254	Standard	NM_001127582		Approved	p29ING4, my036	uc001qpw.4	Q9UNL4	OTTHUMG00000141274	ENST00000396807.4:c.711-1G>A	chr12.hg19:g.6760401C>T			A4KYM4|A4KYM6|D3DUR8|Q0EF62|Q0EF63|Q4VBQ6|Q96E15|Q9H3J0	Splice_Site	SNP	ENST00000396807.4	hg19	CCDS44813.1	.	.	.	.	.	.	.	.	.	.	C	19.52	3.842434	0.71488	.	.	ENSG00000111653	ENST00000341550;ENST00000396807;ENST00000446105;ENST00000444704;ENST00000412586	.	.	.	4.63	4.63	0.57726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5782	0.84706	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ING4	6630662	1.000000	0.71417	0.997000	0.53966	0.968000	0.65278	6.445000	0.73456	2.556000	0.86216	0.561000	0.74099	.		0.512	ING4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280467.2	NM_198287	Intron	T	6760401	C	T	6760401	5	4	673	1	0	0	0	0	0	0	1	0	7740	695	24	2	43	2	ING4	12	6760401	Splice_Site	SNP	C	TCGA-HE-A5NH-01A-11D-A26P-10		6760401	127091494	53	37015											
BHLHE41	79365	hgsc.bcm.edu	37	12	26276658	26276658	+	Missense_Mutation	SNP	T	T	C			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr12:26276658T>C	ENST00000242728.4	-	4	598	c.251A>G	c.(250-252)gAg>gGg	p.E84G	RP11-283G6.3_ENST00000535914.1_RNA|RP11-283G6.3_ENST00000545819.1_RNA	NM_030762.2	NP_110389.1	Q9C0J9	BHE41_HUMAN	basic helix-loop-helix family, member e41	84	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|circadian regulation of gene expression (GO:0032922)|negative regulation of myotube differentiation (GO:0010832)|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)|organ morphogenesis (GO:0009887)	nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|histone deacetylase binding (GO:0042826)|MRF binding (GO:0043426)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|transcription corepressor activity (GO:0003714)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)	5						TACAGCTTTCTCCAGATGTCC	0.408																																																0													93	92	92					12																	26276658		2202	4300	6502	SO:0001583	missense	79365			AB044088	CCDS8706.1	12p12.1	2011-12-05	2009-01-12	2009-01-12	ENSG00000123095	ENSG00000123095		"Basic helix-loop-helix proteins"	16617	protein-coding gene	gene with protein product	"differentially expressed in chondrocytes 2", "Enhancer-of-split and hairy-related protein 1"	606200	"basic helix-loop-helix domain containing, class B, 3"	BHLHB3		11162494, 18557763	Standard	NM_030762		Approved	DEC2, SHARP-1, SHARP1, bHLHe41	uc001rhb.3	Q9C0J9	OTTHUMG00000169174	ENST00000242728.4:c.251A>G	chr12.hg19:g.26276658T>C	ENSP00000242728:p.Glu84Gly		A2I2N8	Missense_Mutation	SNP	ENST00000242728.4	hg19	CCDS8706.1	.	.	.	.	.	.	.	.	.	.	T	18.09	3.546283	0.65198	.	.	ENSG00000123095	ENST00000242728;ENST00000540731	D	0.98120	-4.73	4.15	4.15	0.48705	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	U	0.000000	D	0.98172	0.9396	M	0.67569	2.06	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98797	1.0738	10	0.87932	D	0	-16.7562	12.4813	0.55844	0.0:0.0:0.0:1.0	.	84	Q9C0J9	BHE41_HUMAN	G	84	ENSP00000242728:E84G	ENSP00000242728:E84G	E	-	2	0	BHLHE41	26167925	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.709000	0.84645	1.876000	0.54355	0.528000	0.53228	GAG		0.408	BHLHE41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402714.1	NM_030762		C	26276658	T	C	26276658	3	2	673	1	0	0	0	0	1	0	0	0	1424	1551	54	3	1205	3	BHLHE41	12	26276658	Missense_Mutation	SNP	T	TCGA-HE-A5NH-01A-11D-A26P-10	19516257	26276658	107575237	54	37016											
ERGIC2	51290	hgsc.bcm.edu	37	12	29502995	29502995	+	Silent	SNP	A	A	T			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr12:29502995A>T	ENST00000360150.4	-	9	654	c.579T>A	c.(577-579)atT>atA	p.I193I		NM_016570.2	NP_057654.2	Q96RQ1	ERGI2_HUMAN	ERGIC and golgi 2	193					vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184)					GAGGATGTGGAATTGCCCTGA	0.303																																																0													57	53	54					12																	29502995		1824	4085	5909	SO:0001819	synonymous_variant	51290			AF216751	CCDS41765.1	12p11.22	2006-02-08							30208	protein-coding gene	gene with protein product		612236				11445006, 12932305	Standard	NM_016570		Approved	PTX1, Erv41	uc001riv.3	Q96RQ1		ENST00000360150.4:c.579T>A	chr12.hg19:g.29502995A>T			A6NHH6|Q53GY2|Q8N2Q9|Q9BVV9|Q9NZA3	Silent	SNP	ENST00000360150.4	hg19	CCDS41765.1	.	.	.	.	.	.	.	.	.	.	a	11.11	1.541269	0.27563	.	.	ENSG00000087502	ENST00000548909	.	.	.	5.78	0.983	0.19767	.	.	.	.	.	T	0.55114	0.1900	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45556	-0.9253	4	.	.	.	.	8.0069	0.30329	0.655:0.0:0.345:0.0	.	.	.	.	T	3	.	.	S	-	1	0	ERGIC2	29394262	0.982000	0.34865	1.000000	0.80357	0.989000	0.77384	0.257000	0.18369	0.143000	0.18926	0.524000	0.50904	TCC		0.303	ERGIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403489.1	NM_016570		T	29502995	A	T	29502995	2	4	673	1	0	0	0	0	0	0	0	1	5226	242	9	5		5	ERGIC2	12	29502995	Silent	SNP	A	TCGA-HE-A5NH-01A-11D-A26P-10	3226337	29502995	104348900	55	37017											
C12orf64	283310	hgsc.bcm.edu	37	12	80730767	80730767	+	Missense_Mutation	SNP	A	A	T			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr12:80730767A>T	ENST00000547103.1	+	41	4786	c.4780A>T	c.(4780-4782)Aat>Tat	p.N1594Y	OTOGL_ENST00000458043.2_Missense_Mutation_p.N1606Y			Q3ZCN5	OTOGL_HUMAN	otogelin-like	1594	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						AATAATTGTCAATCGGTTGGC	0.279																																																0													28	26	26					12																	80730767		1788	4046	5834	SO:0001583	missense	283310			AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"chromosome 12 open reading frame 64"	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.4780A>T	chr12.hg19:g.80730767A>T	ENSP00000447211:p.Asn1594Tyr		F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	ENST00000547103.1	hg19		.	.	.	.	.	.	.	.	.	.	A	14.88	2.668809	0.47677	.	.	ENSG00000165899	ENST00000547103;ENST00000458043	T;T	0.58652	0.32;0.32	4.92	3.72	0.42706	.	.	.	.	.	T	0.65428	0.2690	M	0.72118	2.19	0.28910	N	0.892741	.	.	.	.	.	.	T	0.61888	-0.6970	7	0.59425	D	0.04	.	10.9776	0.47475	0.8598:0.0:0.0:0.1402	.	.	.	.	Y	1594;1606	ENSP00000447211:N1594Y;ENSP00000400895:N1606Y	ENSP00000400895:N1606Y	N	+	1	0	OTOGL	79254898	1.000000	0.71417	0.989000	0.46669	0.943000	0.58893	4.208000	0.58486	0.757000	0.33036	0.482000	0.46254	AAT		0.279	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591		T	80730767	A	T	80730767	3	4	673	1	0	0	0	0	1	0	0	0	1709	130	5	5	4978	5	C12orf64	12	80730767	Missense_Mutation	SNP	A	TCGA-HE-A5NH-01A-11D-A26P-10	51227772	80730767	53121128	56	37018											
PPP1CC	5501	hgsc.bcm.edu	37	12	111168372	111168372	+	Missense_Mutation	SNP	C	C	T			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr12:111168372C>T	ENST00000335007.5	-	3	570	c.380G>A	c.(379-381)tGt>tAt	p.C127Y	PPP1CC_ENST00000340766.5_Missense_Mutation_p.C127Y|PPP1CC_ENST00000551690.1_5'Flank|PPP1CC_ENST00000551676.1_Missense_Mutation_p.C127Y|PPP1CC_ENST00000550991.1_Missense_Mutation_p.C127Y|PPP1CC_ENST00000546933.1_Missense_Mutation_p.C136Y	NM_002710.3	NP_002701.1	P36873	PP1G_HUMAN	protein phosphatase 1, catalytic subunit, gamma isozyme	127					cell division (GO:0051301)|circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|glycogen metabolic process (GO:0005977)|mitotic cell cycle (GO:0000278)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron differentiation (GO:0030182)|protein dephosphorylation (GO:0006470)|regulation of circadian rhythm (GO:0042752)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)|triglyceride catabolic process (GO:0019433)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|focal adhesion (GO:0005925)|kinetochore (GO:0000776)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)|PTW/PP1 phosphatase complex (GO:0072357)	metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|large_intestine(2)|lung(3)	6						GATGCTGGCACATTCATGGTT	0.338																																																0													62	67	65					12																	111168372		2203	4300	6503	SO:0001583	missense	5501				CCDS9150.1, CCDS58279.1	12q24.1-q24.2	2013-01-17	2010-03-05		ENSG00000186298	ENSG00000186298	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9283	protein-coding gene	gene with protein product		176914	"protein phosphatase 1, catalytic subunit, gamma isoform"				Standard	NM_002710		Approved	PP1C, PP1gamma	uc021rdx.1	P36873	OTTHUMG00000169531	ENST00000335007.5:c.380G>A	chr12.hg19:g.111168372C>T	ENSP00000335084:p.Cys127Tyr			Missense_Mutation	SNP	ENST00000335007.5	hg19	CCDS9150.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.520313	0.85495	.	.	ENSG00000186298	ENST00000335007;ENST00000340766;ENST00000546933;ENST00000550991;ENST00000551676	D;D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87;-1.87	5.61	5.61	0.85477	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.039374	0.85682	D	0.000000	D	0.93015	0.7777	H	0.95611	3.695	0.80722	D	1	P	0.51240	0.943	P	0.50231	0.635	D	0.94583	0.7781	10	0.87932	D	0	-4.8814	19.998	0.97395	0.0:1.0:0.0:0.0	.	127	P36873	PP1G_HUMAN	Y	127;127;136;127;127	ENSP00000335084:C127Y;ENSP00000341779:C127Y;ENSP00000447122:C136Y;ENSP00000448981:C127Y;ENSP00000448437:C127Y	ENSP00000335084:C127Y	C	-	2	0	PPP1CC	109652755	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.692000	0.84203	2.804000	0.96469	0.462000	0.41574	TGT		0.338	PPP1CC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404659.1			T	111168372	C	T	111168372	3	4	673	1	0	0	0	0	1	0	0	0	12356	478	17	2	611	2	PPP1CC	12	111168372	Missense_Mutation	SNP	C	TCGA-HE-A5NH-01A-11D-A26P-10	30437605	111168372	22683523	57	37019											
SSTR1	6751	hgsc.bcm.edu	37	14	38678806	38678806	+	Missense_Mutation	SNP	T	T	C			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr14:38678806T>C	ENST00000267377.2	+	3	829	c.212T>C	c.(211-213)gTg>gCg	p.V71A		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	71					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)	GTGTGCCTGGTGGGGCTGTGT	0.562																																																0													144	130	135					14																	38678806		2203	4300	6503	SO:0001583	missense	6751				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.212T>C	chr14.hg19:g.38678806T>C	ENSP00000267377:p.Val71Ala			Missense_Mutation	SNP	ENST00000267377.2	hg19	CCDS9666.1	.	.	.	.	.	.	.	.	.	.	T	14.87	2.664028	0.47572	.	.	ENSG00000139874	ENST00000267377	T	0.20598	2.06	4.74	3.58	0.41010	.	0.000000	0.48767	D	0.000167	T	0.16685	0.0401	L	0.32530	0.975	0.49687	D	0.99981	B	0.31581	0.329	B	0.32090	0.14	T	0.04427	-1.0952	10	0.52906	T	0.07	.	10.861	0.46827	0.0:0.0:0.1584:0.8416	.	71	P30872	SSR1_HUMAN	A	71	ENSP00000267377:V71A	ENSP00000267377:V71A	V	+	2	0	SSTR1	37748557	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.841000	0.86834	0.828000	0.34709	0.533000	0.62120	GTG		0.562	SSTR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409930.2			C	38678806	T	C	38678806	3	2	673	1	0	0	0	0	1	0	0	0	15202	1696	59	3	214	3	SSTR1	14	38678806	Missense_Mutation	SNP	T	TCGA-HE-A5NH-01A-11D-A26P-10		38678806	68670734	58	37020											
ZBTB1	22890	hgsc.bcm.edu	37	14	64988346	64988346	+	Missense_Mutation	SNP	C	C	G			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr14:64988346C>G	ENST00000554015.1	+	4	555	c.124C>G	c.(124-126)Cta>Gta	p.L42V	ZBTB1_ENST00000358738.3_Missense_Mutation_p.L42V|ZBTB1_ENST00000394712.2_Missense_Mutation_p.L42V|RP11-973N13.4_ENST00000554918.1_RNA			Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1	42	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				B cell differentiation (GO:0030183)|innate immune response (GO:0045087)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of pro-T cell differentiation (GO:2000176)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of T cell mediated immunity (GO:0002711)|protein homooligomerization (GO:0051260)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		CAAGGCAGTTCTAGCTGCCTG	0.393																																																0													106	98	101					14																	64988346		2203	4300	6503	SO:0001583	missense	22890			AB023214	CCDS32097.1, CCDS45126.1	14q23.3	2013-01-09			ENSG00000126804	ENSG00000126804		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	20259	protein-coding gene	gene with protein product						10231032	Standard	NM_014950		Approved	KIAA0997, ZNF909	uc010aqg.3	Q9Y2K1		ENST00000554015.1:c.124C>G	chr14.hg19:g.64988346C>G	ENSP00000451000:p.Leu42Val		A8K6S8|Q86SW8	Missense_Mutation	SNP	ENST00000554015.1	hg19	CCDS45126.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.937405	0.73557	.	.	ENSG00000126804	ENST00000553583;ENST00000556965;ENST00000554015;ENST00000358738;ENST00000394712	D;D;D;D;D	0.89485	-2.52;-2.52;-2.52;-2.52;-2.52	6.16	2.42	0.29668	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.250565	0.28219	N	0.016157	D	0.95385	0.8502	H	0.95043	3.615	0.46203	D	0.998929	D;D	0.76494	0.999;0.997	D;D	0.85130	0.994;0.997	D	0.94162	0.7415	10	0.87932	D	0	-10.7701	9.9144	0.41425	0.0:0.6811:0.0:0.3189	.	42;42	Q9Y2K1-2;Q9Y2K1	.;ZBTB1_HUMAN	V	42	ENSP00000451584:L42V;ENSP00000450689:L42V;ENSP00000451000:L42V;ENSP00000351587:L42V;ENSP00000378201:L42V	ENSP00000351587:L42V	L	+	1	2	ZBTB1	64058099	0.970000	0.33590	0.892000	0.35008	0.997000	0.91878	1.715000	0.37971	0.195000	0.20347	0.650000	0.86243	CTA		0.393	ZBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411912.1			G	64988346	C	G	64988346	3	3	673	1	0	0	0	0	1	0	0	0	17527	912	32	4	126	4	ZBTB1	14	64988346	Missense_Mutation	SNP	C	TCGA-HE-A5NH-01A-11D-A26P-10	26309540	64988346	42361194	59	37021											
WDR20	91833	hgsc.bcm.edu	37	14	102674963	102674964	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr14:102674963_102674964insA	ENST00000342702.3	+	3	487_488	c.456_457insA	c.(457-459)accfs	p.T153fs	WDR20_ENST00000499851.2_Intron|WDR20_ENST00000322340.5_Intron|WDR20_ENST00000335263.5_Frame_Shift_Ins_p.T153fs|WDR20_ENST00000545563.1_5'UTR|WDR20_ENST00000424963.2_Frame_Shift_Ins_p.T29fs|WDR20_ENST00000454394.2_Frame_Shift_Ins_p.T184fs|WDR20_ENST00000299135.6_3'UTR|WDR20_ENST00000556807.1_Frame_Shift_Ins_p.T92fs|WDR20_ENST00000556511.2_Frame_Shift_Ins_p.T92fs	NM_001242418.1|NM_144574.3	NP_001229347.1|NP_653175.2	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20	153										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						AGTCACGAGTTACCTGTGTCAA	0.45																																																0																																										SO:0001589	frameshift_variant	91833			BC028387	CCDS9968.1, CCDS9969.1, CCDS9970.1, CCDS55942.1, CCDS55943.1, CCDS55944.1, CCDS55945.1	14q32.31	2013-01-09				ENSG00000140153		"WD repeat domain containing"	19667	protein-coding gene	gene with protein product							Standard	NM_181291		Approved	DMR, MGC33177, FLJ33659	uc010txu.2	Q8TBZ3		ENST00000342702.3:c.457dupA	chr14.hg19:g.102674964_102674964dupA	ENSP00000341037:p.Thr153fs		B4DN18|E7EUY8|F8W9S4|G3V2F8|G3V5R0|H0YJJ1|Q86TU2|Q8NCN7|Q8WXX2|Q9UF86	Frame_Shift_Ins	INS	ENST00000342702.3	hg19	CCDS9969.1																																																																																				0.45	WDR20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414963.1	NM_181291		A	102674964	-	A	102674963	7	5	673	1	0	1	1	0	0	0	0	0	17285	1741	61	0	483	0	WDR20	14	102674963	Frame_Shift_Ins	INS	-	TCGA-HE-A5NH-01A-11D-A26P-10	37686617	102674963	4674577	60	37022											
C15orf2	23742	hgsc.bcm.edu	37	15	24921405	24921405	+	Missense_Mutation	SNP	C	C	T			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr15:24921405C>T	ENST00000329468.2	+	1	865	c.391C>T	c.(391-393)Cgt>Tgt	p.R131C		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	131					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)		p.R131C(1)									GCCTTCACCACGTGAGCCGGC	0.627																																																1	Substitution - Missense(1)	endometrium(1)											51	43	46					15																	24921405		2203	4300	6503	SO:0001583	missense	23742			AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"chromosome 15 open reading frame 2"	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.391C>T	chr15.hg19:g.24921405C>T	ENSP00000333735:p.Arg131Cys			Missense_Mutation	SNP	ENST00000329468.2	hg19	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	7.490	0.650540	0.14516	.	.	ENSG00000185823	ENST00000329468	T	0.06294	3.32	2.27	1.33	0.21861	.	4.968620	0.00575	N	0.000313	T	0.05410	0.0143	N	0.14661	0.345	0.09310	N	1	P	0.43094	0.799	B	0.37780	0.258	T	0.39643	-0.9604	10	0.56958	D	0.05	.	8.6687	0.34137	0.2269:0.7731:0.0:0.0	.	131	Q9NZP6	CO002_HUMAN	C	131	ENSP00000333735:R131C	ENSP00000333735:R131C	R	+	1	0	C15orf2	22472498	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.028000	0.13644	0.082000	0.17018	-2.175000	0.00321	CGT		0.627	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		T	24921405	C	T	24921405	3	4	673	1	0	0	0	0	1	0	0	0	1786	536	19	1	393	1	C15orf2	15	24921405	Missense_Mutation	SNP	C	TCGA-HE-A5NH-01A-11D-A26P-10		24921405	77609987	61	37023											
UNC13C	440279	hgsc.bcm.edu	37	15	54557623	54557623	+	Silent	SNP	T	T	A			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr15:54557623T>A	ENST00000260323.11	+	9	3747	c.3747T>A	c.(3745-3747)gtT>gtA	p.V1249V	UNC13C_ENST00000537900.1_Silent_p.V1247V|UNC13C_ENST00000545554.1_Silent_p.V1249V	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1249	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				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)		CAGTTCAAGTTGGAAAGAACA	0.318																																																0													54	50	51					15																	54557623		1800	4067	5867	SO:0001819	synonymous_variant	440279			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.3747T>A	chr15.hg19:g.54557623T>A			Q0P613|Q8ND48|Q96NP3	Silent	SNP	ENST00000260323.11	hg19	CCDS45264.1																																																																																				0.318	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		A	54557623	T	A	54557623	2	1	673	1	0	0	0	0	0	0	0	1	16991	1799	63	5		5	UNC13C	15	54557623	Silent	SNP	T	TCGA-HE-A5NH-01A-11D-A26P-10	29636218	54557623	47973769	62	37024											
SNX1	6642	hgsc.bcm.edu	37	15	64424017	64424017	+	Missense_Mutation	SNP	G	G	C			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr15:64424017G>C	ENST00000559844.1	+	11	1161	c.1147G>C	c.(1147-1149)Gaa>Caa	p.E383Q	SNX1_ENST00000353874.4_Missense_Mutation_p.E383Q|SNX1_ENST00000560829.1_Missense_Mutation_p.E165Q|SNX1_ENST00000561026.1_Missense_Mutation_p.E318Q|SNX1_ENST00000261889.5_Missense_Mutation_p.E383Q			Q13596	SNX1_HUMAN	sorting nexin 1	383	BAR.				early endosome to Golgi transport (GO:0034498)|intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)|retromer complex (GO:0030904)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						GCTCCACCAGGAACAGGCCAA	0.537																																																0													125	118	120					15																	64424017		2203	4300	6503	SO:0001583	missense	6642			BC000357	CCDS32266.1, CCDS32268.1, CCDS58371.1	15q22.31	2011-05-03			ENSG00000028528	ENSG00000028528		"Sorting nexins"	11172	protein-coding gene	gene with protein product		601272				8638121	Standard	NM_003099		Approved	SNX1A, MGC8664, HsT17379, Vps5	uc010uio.2	Q13596		ENST00000559844.1:c.1147G>C	chr15.hg19:g.64424017G>C	ENSP00000453785:p.Glu383Gln		A6NM19|A8K6T7|H0Y2M5|O60750|O60751|Q6ZRJ8	Missense_Mutation	SNP	ENST00000559844.1	hg19	CCDS32266.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.180341	0.78677	.	.	ENSG00000028528	ENST00000380285;ENST00000353874;ENST00000261889	T	0.32023	1.47	5.2	5.2	0.72013	Vps5 C-terminal (1);	0.092925	0.64402	D	0.000001	T	0.38532	0.1044	L	0.45137	1.4	0.80722	D	1	P;B;P;P;B;P;P	0.47106	0.89;0.167;0.74;0.74;0.365;0.475;0.571	P;B;P;P;B;B;B	0.48952	0.596;0.34;0.513;0.457;0.142;0.411;0.378	T	0.09885	-1.0654	10	0.52906	T	0.07	-19.057	17.8936	0.88879	0.0:0.0:1.0:0.0	.	383;293;383;383;318;383;383	Q6ZRJ8;Q59GU6;Q53HL9;Q53GY8;Q13596-2;A6NKH4;Q13596	.;.;.;.;.;.;SNX1_HUMAN	Q	383;383;318	ENSP00000326668:E383Q	ENSP00000261889:E318Q	E	+	1	0	SNX1	62211070	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.657000	0.98554	2.693000	0.91896	0.561000	0.74099	GAA		0.537	SNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418559.1	NM_003099		C	64424017	G	C	64424017	3	2	673	1	0	0	0	0	1	0	0	0	14886	1175	41	4	1189	4	SNX1	15	64424017	Missense_Mutation	SNP	G	TCGA-HE-A5NH-01A-11D-A26P-10	9866394	64424017	38107375	63	37025											
ALPK3	57538	hgsc.bcm.edu	37	15	85411510	85411510	+	Missense_Mutation	SNP	G	G	C			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr15:85411510G>C	ENST00000258888.5	+	14	5714	c.5547G>C	c.(5545-5547)agG>agC	p.R1849S		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1849					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)			CTGCTGGCAGGAAAGGCTCCC	0.627																																																0													56	65	62					15																	85411510		2203	4299	6502	SO:0001583	missense	57538			AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17574	protein-coding gene	gene with protein product	"myocyte induction differentiation originator", "muscle alpha-kinase"					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.5547G>C	chr15.hg19:g.85411510G>C	ENSP00000258888:p.Arg1849Ser		Q9P2L6	Missense_Mutation	SNP	ENST00000258888.5	hg19	CCDS10333.1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.610641	0.66558	.	.	ENSG00000136383	ENST00000258888	T	0.68903	-0.36	3.93	1.99	0.26369	.	0.271361	0.27778	N	0.017892	T	0.76307	0.3969	M	0.74258	2.255	0.37283	D	0.907916	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.996	T	0.75625	-0.3253	10	0.54805	T	0.06	-23.6009	5.715	0.17954	0.3613:0.0:0.6387:0.0	.	150;1849	B4DU37;Q96L96	.;ALPK3_HUMAN	S	1849	ENSP00000258888:R1849S	ENSP00000258888:R1849S	R	+	3	2	ALPK3	83212514	1.000000	0.71417	0.996000	0.52242	0.906000	0.53458	0.646000	0.24797	0.408000	0.25621	0.313000	0.20887	AGG		0.627	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		C	85411510	G	C	85411510	3	2	673	1	0	0	0	0	1	0	0	0	546	1165	41	4	5601	4	ALPK3	15	85411510	Missense_Mutation	SNP	G	TCGA-HE-A5NH-01A-11D-A26P-10	20987493	85411510	17119882	64	37026											
BTBD12	84464	hgsc.bcm.edu	37	16	3645657	3645657	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr16:3645657delC	ENST00000294008.3	-	9	2602	c.1962delG	c.(1960-1962)gggfs	p.G654fs		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	654	Interaction with SLX4IP, ERCC4 and MSH2.				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						GCACCACAAACCCAGTCAGAG	0.627								Direct reversal of damage																																								0													63	65	64					16																	3645657		2197	4300	6497	SO:0001589	frameshift_variant	84464			AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"Fanconi anemia, complementation groups", "BTB/POZ domain containing"	23845	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group P"	613278	"BTB (POZ) domain containing 12", "SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.1962delG	chr16.hg19:g.3645657delC	ENSP00000294008:p.Gly654fs		Q69YT8|Q8TF15|Q96JP1	Frame_Shift_Del	DEL	ENST00000294008.3	hg19	CCDS10506.2																																																																																				0.627	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		-	3645657	C	-	3645657	7	5	673	1	0	1	0	1	0	0	0	0	1542	494	18	0	3570	0	BTBD12	16	3645657	Frame_Shift_Del	DEL	C	TCGA-HE-A5NH-01A-11D-A26P-10		3645657	86709096	65	37027											
SSH2	85464	hgsc.bcm.edu	37	17	27959441	27959441	+	Missense_Mutation	SNP	T	T	A			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr17:27959441T>A	ENST00000269033.3	-	15	2841	c.2690A>T	c.(2689-2691)aAg>aTg	p.K897M	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.K924M	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	897					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						CTTTGAATTCTTACGAGTGGA	0.502																																																0													184	192	189					17																	27959441		2203	4300	6503	SO:0001583	missense	85464			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.2690A>T	chr17.hg19:g.27959441T>A	ENSP00000269033:p.Lys897Met		Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Missense_Mutation	SNP	ENST00000269033.3	hg19	CCDS11253.1	.	.	.	.	.	.	.	.	.	.	T	18.26	3.585604	0.66105	.	.	ENSG00000141298	ENST00000269033;ENST00000540801	T;T	0.19806	2.14;2.12	5.97	4.89	0.63831	.	0.456816	0.25546	N	0.029933	T	0.43809	0.1264	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.36407	-0.9749	10	0.87932	D	0	-19.645	11.9775	0.53100	0.0:0.0675:0.0:0.9325	.	924;897	F5H527;Q76I76	.;SSH2_HUMAN	M	897;924	ENSP00000269033:K897M;ENSP00000444743:K924M	ENSP00000269033:K897M	K	-	2	0	SSH2	24983567	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.807000	0.69157	1.089000	0.41292	0.472000	0.43445	AAG		0.502	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		A	27959441	T	A	27959441	3	1	673	1	0	0	0	0	1	0	0	0	15190	1609	56	5	1585	5	SSH2	17	27959441	Missense_Mutation	SNP	T	TCGA-HE-A5NH-01A-11D-A26P-10		27959441	53235769	66	37028											
TGIF1	7050	hgsc.bcm.edu	37	18	3452341	3452341	+	Missense_Mutation	SNP	G	G	C			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr18:3452341G>C	ENST00000330513.5	+	1	667	c.364G>C	c.(364-366)Ggt>Cgt	p.G122R	TGIF1_ENST00000577543.1_Intron|TGIF1_ENST00000405385.3_Intron|TGIF1_ENST00000551402.1_Intron|TGIF1_ENST00000407501.2_Intron|TGIF1_ENST00000548489.2_Intron|TGIF1_ENST00000343820.5_Intron|TGIF1_ENST00000345133.5_Intron|TGIF1_ENST00000551541.1_Intron|TGIF1_ENST00000400167.2_5'Flank|TGIF1_ENST00000401449.1_Intron	NM_170695.2	NP_733796.2	Q15583	TGIF1_HUMAN	TGFB-induced factor homeobox 1	122					determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of cell proliferation (GO:0008285)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nodal signaling pathway (GO:0038092)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neuron differentiation (GO:0045666)|regulation of gastrulation (GO:0010470)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)				GGGCGCACAGGGTCCAGCTCC	0.687																																																0													14	16	15					18																	3452341		2171	4257	6428	SO:0001583	missense	7050			X89750	CCDS11832.1, CCDS11833.1, CCDS11834.1, CCDS11835.1	18p11.31	2011-06-20	2007-01-30	2007-01-30	ENSG00000177426	ENSG00000177426		"Homeoboxes / TALE class"	11776	protein-coding gene	gene with protein product		602630	"TGFB-induced factor (TALE family homeobox)"	HPE4, TGIF		8537382, 10835638	Standard	NM_173211		Approved		uc002klz.3	Q15583	OTTHUMG00000131511	ENST00000330513.5:c.364G>C	chr18.hg19:g.3452341G>C	ENSP00000327959:p.Gly122Arg		A6NE42|A6NLU7|F8VZB6|Q6ICR0|Q8N5X9|Q9NRS0	Missense_Mutation	SNP	ENST00000330513.5	hg19	CCDS11834.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.037731	0.54896	.	.	ENSG00000177426	ENST00000330513	T	0.52295	0.67	3.89	3.01	0.34805	.	.	.	.	.	T	0.37348	0.1000	L	0.38175	1.15	0.21473	N	0.999675	P	0.44877	0.845	B	0.41813	0.367	T	0.15235	-1.0444	9	0.52906	T	0.07	3.9769	7.1745	0.25736	0.1232:0.0:0.8768:0.0	.	122	Q15583	TGIF1_HUMAN	R	122	ENSP00000327959:G122R	ENSP00000327959:G122R	G	+	1	0	TGIF1	3442341	0.004000	0.15560	0.040000	0.18447	0.018000	0.09664	1.238000	0.32707	0.855000	0.35359	0.655000	0.94253	GGT		0.687	TGIF1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254368.4	NM_170695		C	3452341	G	C	3452341	3	2	673	1	0	0	0	0	1	0	0	0	15830	1232	43	4	448	4	TGIF1	18	3452341	Missense_Mutation	SNP	G	TCGA-HE-A5NH-01A-11D-A26P-10		3452341	74624907	67	37029											
PTPRM	5797	hgsc.bcm.edu	37	18	8378412	8378412	+	Splice_Site	SNP	G	G	T	rs374669816		TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr18:8378412G>T	ENST00000332175.8	+	25	4610	c.3573G>T	c.(3571-3573)cgG>cgT	p.R1191R	PTPRM_ENST00000400053.4_Splice_Site_p.R1129R|PTPRM_ENST00000444013.1_Splice_Site_p.R978R|PTPRM_ENST00000400060.4_Splice_Site_p.R1205R|PTPRM_ENST00000580170.1_Splice_Site_p.R1204R	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1191	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)				AGGAATTCCGGGTAAGTGATG	0.493																																																0													116	97	103					18																	8378412		2203	4300	6503	SO:0001630	splice_region_variant	5797			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.3573+1G>T	chr18.hg19:g.8378412G>T			A7MBN1|D3DUH8|J3QL11	Silent	SNP	ENST00000332175.8	hg19	CCDS11840.1																																																																																				0.493	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1		Silent	T	8378412	G	T	8378412	5	4	673	1	0	0	0	0	0	0	1	0	12812	1246	43	4	3718	4	PTPRM	18	8378412	Splice_Site	SNP	G	TCGA-HE-A5NH-01A-11D-A26P-10	4926071	8378412	69698836	68	37030											
FUT6	2528	hgsc.bcm.edu	37	19	5832530	5832530	+	Missense_Mutation	SNP	G	G	T			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr19:5832530G>T	ENST00000318336.4	-	3	1243	c.49C>A	c.(49-51)Ctg>Atg	p.L17M	FUT6_ENST00000527106.1_Missense_Mutation_p.L17M|FUT6_ENST00000286955.5_Missense_Mutation_p.L17M|FUT6_ENST00000524754.1_Missense_Mutation_p.L17M|FUT6_ENST00000592563.1_Missense_Mutation_p.L17M	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN	fucosyltransferase 6 (alpha (1,3) fucosyltransferase)	17					fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						AGCGTGGTCAGACAGCAGCGC	0.572																																																0													35	30	32					19																	5832530		2203	4300	6503	SO:0001583	missense	2528				CCDS12152.1	19p13.3	2013-02-26			ENSG00000156413	ENSG00000156413	2.4.1.65	"Fucosyltransferases"	4017	protein-coding gene	gene with protein product	"alpha-(1,3)-fucosyltransferase", "galactoside 3-L-fucosyltransferase"	136836				1520296, 7782074	Standard	NM_001040701		Approved	FT1A, FCT3A, FucT-VI, FLJ40754	uc002mdh.1	P51993	OTTHUMG00000167335	ENST00000318336.4:c.49C>A	chr19.hg19:g.5832530G>T	ENSP00000313398:p.Leu17Met		A6NEX0|D6W637|Q9UND8	Missense_Mutation	SNP	ENST00000318336.4	hg19	CCDS12152.1	.	.	.	.	.	.	.	.	.	.	G	10.54	1.377927	0.24944	.	.	ENSG00000156413	ENST00000524754;ENST00000527106;ENST00000318336;ENST00000286955;ENST00000341530;ENST00000529165;ENST00000531085;ENST00000531199;ENST00000532464;ENST00000528505	T;T;T;T;T;T;T;T;T	0.61859	1.81;1.81;1.81;1.81;1.81;0.81;0.24;0.07;0.19	3.7	1.52	0.23074	.	0.960505	0.08559	U	0.927769	T	0.72803	0.3506	M	0.77616	2.38	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	T	0.55068	-0.8198	10	0.54805	T	0.06	.	6.2965	0.21089	0.1124:0.195:0.6925:0.0	.	17;17	C9J8A2;P51993	.;FUT6_HUMAN	M	17	ENSP00000431708:L17M;ENSP00000432954:L17M;ENSP00000313398:L17M;ENSP00000286955:L17M;ENSP00000436547:L17M;ENSP00000432161:L17M;ENSP00000436413:L17M;ENSP00000431880:L17M;ENSP00000433811:L17M	ENSP00000286955:L17M	L	-	1	2	FUT6	5783530	0.017000	0.18338	0.005000	0.12908	0.033000	0.12548	1.348000	0.33987	0.849000	0.35215	0.436000	0.28706	CTG		0.572	FUT6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394218.2	NM_000150		T	5832530	G	T	5832530	3	4	673	1	0	0	0	0	1	0	0	0	6110	933	33	4	1034	4	FUT6	19	5832530	Missense_Mutation	SNP	G	TCGA-HE-A5NH-01A-11D-A26P-10		5832530	53296453	69	37031											
ZNF844	284391	hgsc.bcm.edu	37	19	12187226	12187226	+	Missense_Mutation	SNP	C	C	T			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr19:12187226C>T	ENST00000439326.3	+	4	1466	c.1291C>T	c.(1291-1293)Ctt>Ttt	p.L431F	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	431					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						GCCTTCATTTCTTCCACTTCC	0.433																																																0													61	61	61					19																	12187226		692	1591	2283	SO:0001583	missense	284391			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.1291C>T	chr19.hg19:g.12187226C>T	ENSP00000392024:p.Leu431Phe		Q5JPI8	Missense_Mutation	SNP	ENST00000439326.3	hg19	CCDS45985.1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.915954	0.33815	.	.	ENSG00000223547	ENST00000439326;ENST00000541708	T	0.08008	3.14	2.74	-5.49	0.02584	.	.	.	.	.	T	0.03520	0.0101	N	0.21097	0.63	0.09310	N	0.999999	P	0.49961	0.93	B	0.37550	0.253	T	0.33752	-0.9856	9	0.10111	T	0.7	.	7.4624	0.27302	0.2498:0.309:0.4413:0.0	.	431	Q08AG5	ZN844_HUMAN	F	431	ENSP00000392024:L431F	ENSP00000392024:L431F	L	+	1	0	ZNF844	12048226	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.229000	0.09098	-1.610000	0.01583	0.407000	0.27541	CTT		0.433	ZNF844-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344086.2			T	12187226	C	T	12187226	3	4	673	1	0	0	0	0	1	0	0	0	18195	913	32	2	1305	2	ZNF844	19	12187226	Missense_Mutation	SNP	C	TCGA-HE-A5NH-01A-11D-A26P-10	6354696	12187226	46941757	70	37032											
IL28B	282617	hgsc.bcm.edu	37	19	39735444	39735444	+	Missense_Mutation	SNP	C	C	T	rs201018323	byFrequency	TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr19:39735444C>T	ENST00000413851.2	-	1	202	c.164G>A	c.(163-165)aGg>aAg	p.R55K	IFNL4_ENST00000606380.1_RNA	NM_172139.2	NP_742151.2	Q8IZI9	IFNL3_HUMAN	interferon, lambda 3	55					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|negative regulation of viral genome replication (GO:0045071)|positive regulation of immune response (GO:0050778)	extracellular space (GO:0005615)											ATCTTTGGCCCTCTTAAAGGC	0.622													C|||	3	0.000599042	0.0008	0.0	5008	,	,		19948	0.0		0.001	False		,,,				2504	0.001															0													21	24	23					19																	39735444		2203	4292	6495	SO:0001583	missense	282617			AY129149	CCDS12530.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000197110	ENSG00000197110		"Interferons"	18365	protein-coding gene	gene with protein product		607402	"interleukin 28B", "interleukin 28B (interferon, lambda 3)"	IL28B			Standard	NM_172139		Approved	IL-28B, IL28C	uc010xut.2	Q8IZI9	OTTHUMG00000182805	ENST00000413851.2:c.164G>A	chr19.hg19:g.39735444C>T	ENSP00000409000:p.Arg55Lys		A2BDE1|Q6VN56|Q7Z4J3|Q8IWL6	Missense_Mutation	SNP	ENST00000413851.2	hg19	CCDS12530.1	.	.	.	.	.	.	.	.	.	.	C	0.482	-0.879400	0.02550	.	.	ENSG00000197110	ENST00000413851	T	0.26223	1.75	2.97	-4.43	0.03568	.	0.765632	0.12009	N	0.508070	T	0.03739	0.0106	N	0.00521	-1.4	0.18873	N	0.999982	B	0.06786	0.001	B	0.04013	0.001	T	0.37197	-0.9716	10	0.06757	T	0.87	2.9441	0.3638	0.00368	0.1912:0.2524:0.1896:0.3668	.	55	Q8IZI9	IL28B_HUMAN	K	55	ENSP00000409000:R55K	ENSP00000409000:R55K	R	-	2	0	IL28B	44427284	0.000000	0.05858	0.388000	0.26195	0.653000	0.38743	-1.727000	0.01860	-0.398000	0.07679	0.194000	0.17425	AGG		0.622	IFNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463832.1	NM_172139		T	39735444	C	T	39735444	3	4	673	1	0	0	0	0	1	0	0	0	7685	681	24	2	445	2	IL28B	19	39735444	Missense_Mutation	SNP	C	TCGA-HE-A5NH-01A-11D-A26P-10	27548218	39735444	19393539	71	37033											
CCDC9	26093	hgsc.bcm.edu	37	19	47767895	47767895	+	Missense_Mutation	SNP	G	G	T			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr19:47767895G>T	ENST00000221922.6	+	6	720	c.498G>T	c.(496-498)aaG>aaT	p.K166N		NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	166							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)		ACATTGAGAAGATGAATGAGG	0.617																																																0													80	63	69					19																	47767895		2202	4299	6501	SO:0001583	missense	26093			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.498G>T	chr19.hg19:g.47767895G>T	ENSP00000221922:p.Lys166Asn			Missense_Mutation	SNP	ENST00000221922.6	hg19	CCDS12698.1	.	.	.	.	.	.	.	.	.	.	g	16.68	3.191307	0.58017	.	.	ENSG00000105321	ENST00000221922;ENST00000504556	T	0.27890	1.64	4.63	4.63	0.57726	.	0.356482	0.30667	N	0.009121	T	0.53769	0.1817	M	0.67953	2.075	0.44694	D	0.997682	D	0.89917	1.0	D	0.77004	0.989	T	0.55477	-0.8135	10	0.52906	T	0.07	-46.2641	16.3937	0.83548	0.0:0.0:1.0:0.0	.	166	Q9Y3X0	CCDC9_HUMAN	N	166;148	ENSP00000221922:K166N	ENSP00000221922:K166N	K	+	3	2	CCDC9	52459735	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.672000	0.54583	2.416000	0.81992	0.561000	0.74099	AAG		0.617	CCDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466917.1	NM_015603		T	47767895	G	T	47767895	3	4	673	1	0	0	0	0	1	0	0	0	2869	933	33	4	516	4	CCDC9	19	47767895	Missense_Mutation	SNP	G	TCGA-HE-A5NH-01A-11D-A26P-10	8032451	47767895	11361088	72	37034											
ZNF600	162966	hgsc.bcm.edu	37	19	53269420	53269420	+	Missense_Mutation	SNP	T	T	A			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr19:53269420T>A	ENST00000338230.3	-	3	1856	c.1589A>T	c.(1588-1590)gAg>gTg	p.E530V		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	530					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)		CTTGCTGCACTCATTACACTT	0.458																																					Esophageal Squamous(196;1235 2112 2375 33339 34207)											0													220	195	204					19																	53269420		2203	4300	6503	SO:0001583	missense	162966			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.1589A>T	chr19.hg19:g.53269420T>A	ENSP00000344791:p.Glu530Val		Q6MZR0	Missense_Mutation	SNP	ENST00000338230.3	hg19	CCDS12856.1	.	.	.	.	.	.	.	.	.	.	.	12.82	2.052449	0.36181	.	.	ENSG00000189190	ENST00000338230	T	0.17528	2.27	1.51	0.278	0.15673	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18593	0.0446	N	0.11789	0.175	0.09310	N	1	D	0.55172	0.97	D	0.74348	0.983	T	0.16928	-1.0386	9	0.45353	T	0.12	.	5.4227	0.16409	0.251:0.0:0.0:0.749	.	530	Q6ZNG1	ZN600_HUMAN	V	530	ENSP00000344791:E530V	ENSP00000344791:E530V	E	-	2	0	ZNF600	57961232	0.000000	0.05858	0.001000	0.08648	0.042000	0.13812	0.274000	0.18680	-0.139000	0.11414	0.163000	0.16589	GAG		0.458	ZNF600-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463093.1	NM_198457		A	53269420	T	A	53269420	3	1	673	1	0	0	0	0	1	0	0	0	18035	1551	54	5	583	5	ZNF600	19	53269420	Missense_Mutation	SNP	T	TCGA-HE-A5NH-01A-11D-A26P-10	5501525	53269420	5859563	73	37035											
ZNF761	388561	hgsc.bcm.edu	37	19	53959526	53959526	+	RNA	SNP	T	T	G			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr19:53959526T>G	ENST00000454407.1	+	0	2218							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)		AGCTTACAGTTTCAAATCAAA	0.403																																																0													98	102	101					19																	53959526		2203	4299	6502			388561			AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"Zinc fingers, C2H2-type"	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		chr19.hg19:g.53959526T>G			Q6ZNB9	Missense_Mutation	SNP	ENST00000454407.1	hg19																																																																																					0.403	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript		NM_001008401		G	53959526	T	G	53959526	1	3	673	0	1	0	0	0	0	0	0	0	18141	1841	64	5		5	ZNF761	19	53959526	RNA	SNP	T	TCGA-HE-A5NH-01A-11D-A26P-10	690106	53959526	5169457	74	37036											
CRNKL1	51340	hgsc.bcm.edu	37	20	20026023	20026023	+	Missense_Mutation	SNP	A	A	T			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr20:20026023A>T	ENST00000377340.2	-	7	1244	c.1213T>A	c.(1213-1215)Ttc>Atc	p.F405I	CRNKL1_ENST00000536226.1_Missense_Mutation_p.F244I|CRNKL1_ENST00000377327.4_Missense_Mutation_p.F393I	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	405					mRNA splicing, via spliceosome (GO:0000398)|spliceosomal complex assembly (GO:0000245)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						TCTCCAAAGAATTCCACAGCT	0.398																																																0													175	173	173					20																	20026023		2203	4300	6503	SO:0001583	missense	51340			AF255443	CCDS33446.1, CCDS63238.1, CCDS63239.1	20p11.2	2013-10-03	2013-10-03		ENSG00000101343	ENSG00000101343			15762	protein-coding gene	gene with protein product	"SYF3 pre-mRNA-splicing factor"	610952	"crooked neck (Drosophila Crn homolog)-like 1", "Crn, crooked neck-like 1 (Drosophila)", "crooked neck pre-mRNA splicing factor-like 1 (Drosophila)"				Standard	NM_016652		Approved	CRN, CLF, SYF3, Clf1	uc002wrs.3	Q9BZJ0	OTTHUMG00000032000	ENST00000377340.2:c.1213T>A	chr20.hg19:g.20026023A>T	ENSP00000366557:p.Phe405Ile		A8K9T4|Q5JY64|Q8WYI5|Q9BZI9|Q9BZJ1|Q9BZJ2|Q9GZW7|Q9H8F8|Q9NQH5|Q9NYD8	Missense_Mutation	SNP	ENST00000377340.2	hg19	CCDS33446.1	.	.	.	.	.	.	.	.	.	.	A	19.11	3.764213	0.69878	.	.	ENSG00000101343	ENST00000377327;ENST00000377340;ENST00000536226	T;T;T	0.08984	3.03;3.03;3.03	5.8	5.8	0.92144	Tetratricopeptide-like helical (1);	0.091092	0.85682	D	0.000000	T	0.13114	0.0318	M	0.70787	2.145	0.80722	D	1	B	0.29716	0.255	B	0.26517	0.07	T	0.02301	-1.1180	10	0.33141	T	0.24	-21.9403	16.1384	0.81506	1.0:0.0:0.0:0.0	.	405	Q9BZJ0	CRNL1_HUMAN	I	393;405;244	ENSP00000366544:F393I;ENSP00000366557:F405I;ENSP00000440733:F244I	ENSP00000366544:F393I	F	-	1	0	CRNKL1	19974023	1.000000	0.71417	0.976000	0.42696	0.987000	0.75469	9.339000	0.96797	2.203000	0.70933	0.460000	0.39030	TTC		0.398	CRNKL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000127787.1			T	20026023	A	T	20026023	3	4	673	1	0	0	0	0	1	0	0	0	3893	101	4	5	1369	5	CRNKL1	20	20026023	Missense_Mutation	SNP	A	TCGA-HE-A5NH-01A-11D-A26P-10		20026023	42999497	75	37037											
KIAA1755	85449	hgsc.bcm.edu	37	20	36841970	36841970	+	Missense_Mutation	SNP	C	C	T			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr20:36841970C>T	ENST00000279024.4	-	14	3348	c.3077G>A	c.(3076-3078)cGg>cAg	p.R1026Q		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	1026										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)				CAGGCCTGCCCGGCTCAGGGA	0.677																																																0													25	25	25					20																	36841970		2200	4297	6497	SO:0001583	missense	85449			AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.3077G>A	chr20.hg19:g.36841970C>T	ENSP00000279024:p.Arg1026Gln		Q9C0A8	Missense_Mutation	SNP	ENST00000279024.4	hg19	CCDS33467.1	.	.	.	.	.	.	.	.	.	.	C	10.69	1.421251	0.25639	.	.	ENSG00000149633	ENST00000279024	T	0.05717	3.4	5.29	-4.25	0.03766	.	0.891096	0.09443	N	0.801481	T	0.03011	0.0089	N	0.11064	0.09	0.09310	N	1	B	0.17667	0.023	B	0.08055	0.003	T	0.48692	-0.9013	10	0.10902	T	0.67	.	11.6604	0.51343	0.0:0.3634:0.0:0.6366	.	1026	Q5JYT7	K1755_HUMAN	Q	1026	ENSP00000279024:R1026Q	ENSP00000279024:R1026Q	R	-	2	0	KIAA1755	36275384	0.000000	0.05858	0.002000	0.10522	0.669000	0.39330	-2.684000	0.00835	-1.072000	0.03141	-0.224000	0.12420	CGG		0.677	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		T	36841970	C	T	36841970	3	4	673	1	0	0	0	0	1	0	0	0	8259	652	23	1	529	1	KIAA1755	20	36841970	Missense_Mutation	SNP	C	TCGA-HE-A5NH-01A-11D-A26P-10	16815947	36841970	26183550	76	37038											
CABLES2	81928	hgsc.bcm.edu	37	20	60967982	60967982	+	Silent	SNP	C	C	G			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr20:60967982C>G	ENST00000279101.5	-	7	986	c.978G>C	c.(976-978)tcG>tcC	p.S326S		NM_031215.2	NP_112492.2	Q9BTV7	CABL2_HUMAN	Cdk5 and Abl enzyme substrate 2	326					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)			TCACCATGTACGACGCAAAGA	0.657																																																0													140	122	128					20																	60967982		2203	4300	6503	SO:0001819	synonymous_variant	81928			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.978G>C	chr20.hg19:g.60967982C>G			Q5JWL0|Q9BYK0	Silent	SNP	ENST00000279101.5	hg19	CCDS33503.1	.	.	.	.	.	.	.	.	.	.	C	0.070	-1.204574	0.01568	.	.	ENSG00000149679	ENST00000453274	.	.	.	5.05	-10.1	0.00402	.	.	.	.	.	T	0.30448	0.0765	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39742	-0.9599	4	.	.	.	-34.41	0.1912	0.00134	0.2752:0.1684:0.22:0.3364	.	.	.	.	P	120	.	.	R	-	2	0	CABLES2	60401377	0.000000	0.05858	0.020000	0.16555	0.052000	0.14988	-2.225000	0.01212	-2.475000	0.00527	-1.774000	0.00658	CGT		0.657	CABLES2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080027.2	XM_037265		G	60967982	C	G	60967982	2	3	673	1	0	0	0	0	0	0	0	1	2532	523	19	4		4	CABLES2	20	60967982	Silent	SNP	C	TCGA-HE-A5NH-01A-11D-A26P-10	24126012	60967982	2057538	77	37039											
DGCR8	54487	hgsc.bcm.edu	37	22	20077782	20077782	+	Splice_Site	SNP	G	G	C			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr22:20077782G>C	ENST00000351989.3	+	5	1735		c.e5+1		DGCR8_ENST00000407755.1_Splice_Site|DGCR8_ENST00000383024.2_Splice_Site	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit						gene expression (GO:0010467)|primary miRNA processing (GO:0031053)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					GAATCCGTTGGTGAGTTTTTG	0.532																																																0													34	41	38					22																	20077782		2198	4297	6495	SO:0001630	splice_region_variant	54487			AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191			2847	protein-coding gene	gene with protein product		609030	"chromosome 22 open reading frame 12", "DiGeorge syndrome critical region gene 8"	C22orf12		21454614	Standard	NM_001190326		Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.1306+1G>C	chr22.hg19:g.20077782G>C			B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Splice_Site	SNP	ENST00000351989.3	hg19	CCDS13773.1	.	.	.	.	.	.	.	.	.	.	G	12.65	2.002878	0.35320	.	.	ENSG00000128191	ENST00000351989;ENST00000383024;ENST00000407755	.	.	.	4.75	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.878	0.88830	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DGCR8	18457782	1.000000	0.71417	1.000000	0.80357	0.214000	0.24535	9.225000	0.95219	2.618000	0.88619	0.467000	0.42956	.		0.532	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318654.1		Intron	C	20077782	G	C	20077782	5	2	673	1	0	0	0	0	0	0	1	0	4466	1275	44	4	1321	4	DGCR8	22	20077782	Splice_Site	SNP	G	TCGA-HE-A5NH-01A-11D-A26P-10		20077782	31226784	78	37040											
CELSR1	9620	hgsc.bcm.edu	37	22	46931730	46931730	+	Silent	SNP	G	G	A			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr22:46931730G>A	ENST00000262738.3	-	1	1337	c.1338C>T	c.(1336-1338)taC>taT	p.Y446Y	CELSR1_ENST00000395964.1_Silent_p.Y446Y|CELSR1_ENST00000497509.1_5'Flank	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	446	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)		CCACCTCGATGTACACGGTGG	0.672																																																0													64	39	47					22																	46931730		2198	4295	6493	SO:0001819	synonymous_variant	9620			AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.1338C>T	chr22.hg19:g.46931730G>A			O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Silent	SNP	ENST00000262738.3	hg19	CCDS14076.1																																																																																				0.672	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		A	46931730	G	A	46931730	2	1	673	1	0	0	0	0	0	0	0	1	3223	1372	48	2		2	CELSR1	22	46931730	Silent	SNP	G	TCGA-HE-A5NH-01A-11D-A26P-10	26853948	46931730	4372836	79	37041											
ATP11C	286410	hgsc.bcm.edu	37	X	138880882	138880882	+	Missense_Mutation	SNP	A	A	C			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chrX:138880882A>C	ENST00000327569.3	-	9	838	c.740T>G	c.(739-741)cTc>cGc	p.L247R	ATP11C_ENST00000460773.1_5'Flank|ATP11C_ENST00000359686.2_Missense_Mutation_p.L247R|ATP11C_ENST00000370557.1_Missense_Mutation_p.L244R|ATP11C_ENST00000370543.1_Missense_Mutation_p.L247R|ATP11C_ENST00000361648.2_Missense_Mutation_p.L247R	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	247					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)					TTTCAGCAAGAGATTTTCAGG	0.368																																																0													61	56	58					X																	138880882		2203	4300	6503	SO:0001583	missense	286410			AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"ATPases / P-type"	13554	protein-coding gene	gene with protein product		300516	"ATPase, Class VI, type 11C"			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.740T>G	chrX.hg19:g.138880882A>C	ENSP00000332756:p.Leu247Arg		Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Missense_Mutation	SNP	ENST00000327569.3	hg19	CCDS14668.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.355898	0.82243	.	.	ENSG00000101974	ENST00000370557;ENST00000361648;ENST00000327569;ENST00000370543;ENST00000359686	D;D;D;D;D	0.90900	-2.75;-2.75;-2.75;-2.75;-2.75	5.62	5.62	0.85841	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.96911	0.8991	H	0.96748	3.875	0.54753	D	0.999986	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	D	0.98001	1.0360	10	0.87932	D	0	.	13.8743	0.63643	1.0:0.0:0.0:0.0	.	247;247	Q8NB49-3;Q8NB49	.;AT11C_HUMAN	R	244;247;247;247;247	ENSP00000359588:L244R;ENSP00000355165:L247R;ENSP00000332756:L247R;ENSP00000359574:L247R;ENSP00000352715:L247R	ENSP00000332756:L247R	L	-	2	0	ATP11C	138708548	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.962000	0.93254	1.873000	0.54277	0.481000	0.45027	CTC		0.368	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694		C	138880882	A	C	138880882	3	2	673	1	0	0	0	0	1	0	0	0	1121	304	11	5	2809	5	ATP11C	23	138880882	Missense_Mutation	SNP	A	TCGA-HE-A5NH-01A-11D-A26P-10		138880882	16389678	80	37042											
RERE	473	hgsc.bcm.edu	37	1	8422784	8422784	+	Missense_Mutation	SNP	T	T	C			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr1:8422784T>C	ENST00000337907.3	-	17	2495	c.1861A>G	c.(1861-1863)Agc>Ggc	p.S621G	RERE_ENST00000476556.1_Missense_Mutation_p.S67G|RERE_ENST00000400907.2_Intron|RERE_ENST00000400908.2_Missense_Mutation_p.S621G|RERE_ENST00000377464.1_Missense_Mutation_p.S353G	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	621					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)		CTGTCATTGCTGGAGGTACTG	0.577																																																0													137	114	122					1																	8422784		2203	4300	6503	SO:0001583	missense	473			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.1861A>G	chr1.hg19:g.8422784T>C	ENSP00000338629:p.Ser621Gly		O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	ENST00000337907.3	hg19	CCDS95.1	.	.	.	.	.	.	.	.	.	.	T	27.5	4.838657	0.91117	.	.	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000476556;ENST00000400908;ENST00000505225	T;T;T;T	0.64260	-0.09;3.35;1.89;-0.09	5.7	5.7	0.88788	.	.	.	.	.	T	0.77226	0.4099	M	0.67953	2.075	0.80722	D	1	D;D	0.63046	0.992;0.979	D;D	0.76071	0.987;0.982	T	0.78347	-0.2239	9	0.52906	T	0.07	-23.6318	15.138	0.72583	0.0:0.0:0.0:1.0	.	353;621	B1AKN3;Q9P2R6	.;RERE_HUMAN	G	621;353;67;621;41	ENSP00000338629:S621G;ENSP00000366684:S353G;ENSP00000422246:S67G;ENSP00000383700:S621G	ENSP00000338629:S621G	S	-	1	0	RERE	8345371	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.644000	0.83416	2.158000	0.67659	0.460000	0.39030	AGC		0.577	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			C	8422784	T	C	8422784	3	2	674	1	0	0	0	0	1	0	0	0	13237	1580	55	3	2871	3	RERE	1	8422784	Missense_Mutation	SNP	T	TCGA-HE-A5NI-01A-11D-A26P-10		8422784	240827837	1	37043											
MFN2	9927	hgsc.bcm.edu	37	1	12052666	12052667	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	AC	AC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr1:12052666_12052667delAC	ENST00000235329.5	+	4	552_553	c.230_231delAC	c.(229-231)gacfs	p.D77fs	MFN2_ENST00000444836.1_Frame_Shift_Del_p.D77fs|MFN2_ENST00000497302.1_3'UTR	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	77					apoptotic process (GO:0006915)|autophagy (GO:0006914)|blastocyst formation (GO:0001825)|blood coagulation (GO:0007596)|camera-type eye morphogenesis (GO:0048593)|mitochondrial fusion (GO:0008053)|mitochondrial membrane organization (GO:0007006)|mitochondrion localization (GO:0051646)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of smooth muscle cell proliferation (GO:0048662)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to mitochondrion (GO:0006626)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intrinsic component of mitochondrial outer membrane (GO:0031306)|microtubule cytoskeleton (GO:0015630)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	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;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		CAGGTTCTGGACGTCAAAGGTT	0.525																																																0																																										SO:0001589	frameshift_variant	9927			AF036536	CCDS30587.1	1p36.22	2014-09-17			ENSG00000116688	ENSG00000116688			16877	protein-coding gene	gene with protein product		608507				12499352, 11181170	Standard	NM_014874		Approved	CPRP1, KIAA0214, MARF, CMT2A2	uc009vni.3	O95140	OTTHUMG00000002392	ENST00000235329.5:c.230_231delAC	chr1.hg19:g.12052666_12052667delAC	ENSP00000235329:p.Asp77fs		A8K1B3|O95572|Q5JXC3|Q5JXC4|Q9H131|Q9NSX8	Frame_Shift_Del	DEL	ENST00000235329.5	hg19	CCDS30587.1																																																																																				0.525	MFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006859.2	NM_014874		-	12052667	AC	-	12052666	7	5	674	1	0	1	0	1	0	0	0	0	9526	275	10	0	236	0	MFN2	1	12052666	Frame_Shift_Del	DEL	AC	TCGA-HE-A5NI-01A-11D-A26P-10	3629882	12052666	237197955	2	37044											
SPEN	23013	hgsc.bcm.edu	37	1	16260463	16260463	+	Silent	SNP	T	T	G			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr1:16260463T>G	ENST00000375759.3	+	11	7932	c.7728T>G	c.(7726-7728)gtT>gtG	p.V2576V		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2576	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)		CCCCGCCAGTTGACTCTAAAA	0.527																																																0													72	83	79					1																	16260463		2203	4300	6503	SO:0001819	synonymous_variant	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.7728T>G	chr1.hg19:g.16260463T>G			Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Silent	SNP	ENST00000375759.3	hg19	CCDS164.1																																																																																				0.527	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		G	16260463	T	G	16260463	2	3	674	1	0	0	0	0	0	0	0	1	15043	1799	63	5		5	SPEN	1	16260463	Silent	SNP	T	TCGA-HE-A5NI-01A-11D-A26P-10	4207797	16260463	232990158	3	37045											
AKR7A3	22977	hgsc.bcm.edu	37	1	19611546	19611546	+	Silent	SNP	A	A	G			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr1:19611546A>G	ENST00000361640.4	-	4	1110	c.570T>C	c.(568-570)ttT>ttC	p.F190F		NM_012067.2	NP_036199.2	O95154	ARK73_HUMAN	aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase)	190					cellular aldehyde metabolic process (GO:0006081)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldo-keto reductase (NADP) activity (GO:0004033)|electron carrier activity (GO:0009055)			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)	13		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;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ACCTCAGTCCAAAGTGCCTGA	0.612																																																0													94	96	95					1																	19611546		2199	4300	6499	SO:0001819	synonymous_variant	22977			AF040639	CCDS193.1	1p36.13	2008-05-14			ENSG00000162482	ENSG00000162482		"Aldo-keto reductases"	390	protein-coding gene	gene with protein product		608477				10383892	Standard	NM_012067		Approved		uc001bbv.1	O95154	OTTHUMG00000002523	ENST00000361640.4:c.570T>C	chr1.hg19:g.19611546A>G			Q86SR4|Q8IVN6|Q8N5V6|Q8TAX1|Q9NUC3	Silent	SNP	ENST00000361640.4	hg19	CCDS193.1																																																																																				0.612	AKR7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007166.1	NM_012067		G	19611546	A	G	19611546	2	3	674	1	0	0	0	0	0	0	0	1	476	127	5	3		3	AKR7A3	1	19611546	Silent	SNP	A	TCGA-HE-A5NI-01A-11D-A26P-10	3351083	19611546	229639075	4	37046											
ZMYM1	79830	hgsc.bcm.edu	37	1	35569920	35569920	+	Silent	SNP	G	G	C			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr1:35569920G>C	ENST00000373330.1	+	6	618	c.444G>C	c.(442-444)gtG>gtC	p.V148V	ZMYM1_ENST00000359858.4_Silent_p.V148V|ZMYM1_ENST00000373329.1_3'UTR			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	148						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CAAAGGATGTGATTAGTGTCC	0.308																																																0													41	40	41					1																	35569920		1830	4087	5917	SO:0001819	synonymous_variant	79830			AK096206	CCDS41302.1	1p34.3	2008-05-02	2005-09-12		ENSG00000197056	ENSG00000197056		"Zinc fingers, MYM type"	26253	protein-coding gene	gene with protein product			"zinc finger, MYM domain containing 1"			12477932	Standard	XM_005271216		Approved	FLJ23151, MYM	uc001bym.3	Q5SVZ6	OTTHUMG00000004374	ENST00000373330.1:c.444G>C	chr1.hg19:g.35569920G>C			D3DPR7|Q7Z3Q4	Silent	SNP	ENST00000373330.1	hg19	CCDS41302.1																																																																																				0.308	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012705.1	NM_024772		C	35569920	G	C	35569920	2	2	674	1	0	0	0	0	0	0	0	1	17704	1277	45	4		4	ZMYM1	1	35569920	Silent	SNP	G	TCGA-HE-A5NI-01A-11D-A26P-10	15958374	35569920	213680701	5	37047											
FAM46C	54855	hgsc.bcm.edu	37	1	118165851	118165851	+	Missense_Mutation	SNP	C	C	G			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr1:118165851C>G	ENST00000369448.3	+	2	608	c.361C>G	c.(361-363)Cca>Gca	p.P121A		NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN	family with sequence similarity 46, member C	121										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)		GAACTTCCTGCCAGAGGGTGT	0.502			"Mis, F, O"		MM					Multiple Myeloma(3;1.13e-06)																													Rec	yes		1	1p12	54855	"family with sequence similarity 46, member C"		L	0													104	106	105					1																	118165851		2203	4300	6503	SO:0001583	missense	54855			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.361C>G	chr1.hg19:g.118165851C>G	ENSP00000358458:p.Pro121Ala		A3KMG2|Q8NE25|Q9NXK0	Missense_Mutation	SNP	ENST00000369448.3	hg19	CCDS896.1	.	.	.	.	.	.	.	.	.	.	C	19.71	3.877619	0.72294	.	.	ENSG00000183508	ENST00000369448	T	0.46819	0.86	5.75	5.75	0.90469	Domain of unknown function DUF1693 (1);	0.000000	0.64402	D	0.000002	T	0.70456	0.3226	M	0.87971	2.92	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.74850	-0.3524	10	0.72032	D	0.01	-31.2719	18.9258	0.92544	0.0:1.0:0.0:0.0	.	121	Q5VWP2	FA46C_HUMAN	A	121	ENSP00000358458:P121A	ENSP00000358458:P121A	P	+	1	0	FAM46C	117967374	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.818000	0.86416	2.711000	0.92665	0.655000	0.94253	CCA		0.502	FAM46C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038424.1	NM_017709		G	118165851	C	G	118165851	3	3	674	1	0	0	0	0	1	0	0	0	5569	739	26	4	363	4	FAM46C	1	118165851	Missense_Mutation	SNP	C	TCGA-HE-A5NI-01A-11D-A26P-10	82595931	118165851	131084770	6	37048											
ZC3H11A	9877	hgsc.bcm.edu	37	1	203819761	203819761	+	Silent	SNP	C	C	T			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr1:203819761C>T	ENST00000545588.1	+	15	5885	c.2058C>T	c.(2056-2058)ctC>ctT	p.L686L	ZC3H11A_ENST00000332127.4_Silent_p.L686L|ZC3H11A_ENST00000367214.1_Silent_p.L686L|ZC3H11A_ENST00000367210.1_Silent_p.L686L|ZC3H11A_ENST00000367212.3_Silent_p.L686L	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	686					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)			TGAAGCCACTCAGCTCCAGCA	0.502																																																0													80	80	80					1																	203819761		2203	4300	6503	SO:0001819	synonymous_variant	9877				CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"Zinc fingers, CCCH-type domain containing"	29093	protein-coding gene	gene with protein product		613513	"zinc finger CCCH-type domain containing 11A"	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.2058C>T	chr1.hg19:g.203819761C>T			Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Silent	SNP	ENST00000545588.1	hg19	CCDS30978.1																																																																																				0.502	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087471.3	NM_014827		T	203819761	C	T	203819761	2	4	674	1	0	0	0	0	0	0	0	1	17565	813	29	2		2	ZC3H11A	1	203819761	Silent	SNP	C	TCGA-HE-A5NI-01A-11D-A26P-10	85653910	203819761	45430860	7	37049											
NUAK2	81788	hgsc.bcm.edu	37	1	205272646	205272646	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr1:205272646delG	ENST00000367157.3	-	7	1945	c.1819delC	c.(1819-1821)ctgfs	p.L607fs		NM_030952.1	NP_112214.1			NUAK family, SNF1-like kinase, 2											breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CAGTCTGTCAGGGAAAAGCAG	0.642																																																0													55	53	54					1																	205272646		2203	4300	6503	SO:0001589	frameshift_variant	81788			AK074830	CCDS1453.1	1q32.1	2008-02-05			ENSG00000163545	ENSG00000163545			29558	protein-coding gene	gene with protein product	"SNF1/AMP activated protein kinase"	608131				11230166	Standard	NM_030952		Approved	SNARK, FLJ90349	uc001hce.3	Q9H093	OTTHUMG00000037196	ENST00000367157.3:c.1819delC	chr1.hg19:g.205272646delG	ENSP00000356125:p.Leu607fs			Frame_Shift_Del	DEL	ENST00000367157.3	hg19	CCDS1453.1																																																																																				0.642	NUAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090390.1	NM_030952		-	205272646	G	-	205272646	7	5	674	1	0	1	0	1	0	0	0	0	10715	991	35	0	71	0	NUAK2	1	205272646	Frame_Shift_Del	DEL	G	TCGA-HE-A5NI-01A-11D-A26P-10	1452885	205272646	43977975	8	37050											
PLXNA2	5362	hgsc.bcm.edu	37	1	208213052	208213052	+	Missense_Mutation	SNP	C	C	T			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr1:208213052C>T	ENST00000367033.3	-	24	5171	c.4414G>A	c.(4414-4416)Ggc>Agc	p.G1472S		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1472					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)		TCAATGGGGCCCTTCTCCATC	0.622																																																0													96	88	91					1																	208213052		2203	4300	6503	SO:0001583	missense	5362			X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"Plexins"	9100	protein-coding gene	gene with protein product	"plexin 2", "plexin-A2", "semaphorin receptor OCT", "transmembrane protein OCT"	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.4414G>A	chr1.hg19:g.208213052C>T	ENSP00000356000:p.Gly1472Ser		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	hg19	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	C	36	5.938808	0.97122	.	.	ENSG00000076356	ENST00000367033	T	0.35789	1.29	5.51	5.51	0.81932	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.71745	0.3376	M	0.93678	3.445	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79752	-0.1671	10	0.87932	D	0	.	19.4545	0.94882	0.0:1.0:0.0:0.0	.	1472	O75051	PLXA2_HUMAN	S	1472	ENSP00000356000:G1472S	ENSP00000356000:G1472S	G	-	1	0	PLXNA2	206279675	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.538000	0.82048	2.590000	0.87494	0.650000	0.86243	GGC		0.622	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		T	208213052	C	T	208213052	3	4	674	1	0	0	0	0	1	0	0	0	12122	623	22	2	1306	2	PLXNA2	1	208213052	Missense_Mutation	SNP	C	TCGA-HE-A5NI-01A-11D-A26P-10	2940406	208213052	41037569	9	37051											
CAPN2	824	hgsc.bcm.edu	37	1	223900487	223900487	+	Missense_Mutation	SNP	C	C	A			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr1:223900487C>A	ENST00000295006.5	+	1	454	c.145C>A	c.(145-147)Ccg>Acg	p.P49T	CAPN2_ENST00000433674.2_Intron	NM_001748.4	NP_001739	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	49	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				blastocyst development (GO:0001824)|cellular response to amino acid stimulus (GO:0071230)|myoblast fusion (GO:0007520)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of cytoskeleton organization (GO:0051493)|response to hypoxia (GO:0001666)	chromatin (GO:0000785)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|cytoskeletal protein binding (GO:0008092)			breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		CTTCCAGGACCCGTCCTTCCC	0.672																																																0													24	24	24					1																	223900487		2201	4297	6498	SO:0001583	missense	824			J04700	CCDS31035.1, CCDS53478.1	1q41-q42	2013-01-10			ENSG00000162909	ENSG00000162909	3.4.22.52	"EF-hand domain containing"	1479	protein-coding gene	gene with protein product		114230				2852952, 2539381	Standard	NM_001748		Approved	mCANP, CANPml, CANPL2	uc001hob.4	P17655	OTTHUMG00000037376	ENST00000295006.5:c.145C>A	chr1.hg19:g.223900487C>A	ENSP00000295006:p.Pro49Thr		A6NDG7|B7ZA96|E7ES58|Q16738|Q6PJT3|Q8WU26|Q9HBB1	Missense_Mutation	SNP	ENST00000295006.5	hg19	CCDS31035.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.935915	0.52972	.	.	ENSG00000162909	ENST00000295006;ENST00000366869	T	0.49432	0.78	3.88	3.88	0.44766	Peptidase C2, calpain, catalytic domain (3);	0.526246	0.19489	U	0.113025	T	0.54046	0.1834	M	0.81112	2.525	0.24034	N	0.996105	B	0.34214	0.442	B	0.39094	0.29	T	0.54556	-0.8276	10	0.54805	T	0.06	.	12.5002	0.55952	0.0:0.6877:0.3123:0.0	.	49	P17655	CAN2_HUMAN	T	49;78	ENSP00000295006:P49T	ENSP00000295006:P49T	P	+	1	0	CAPN2	221967110	0.000000	0.05858	0.913000	0.36048	0.489000	0.33432	0.484000	0.22308	1.862000	0.54008	0.491000	0.48974	CCG		0.672	CAPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090973.1	NM_001748		A	223900487	C	A	223900487	3	1	674	1	0	0	0	0	1	0	0	0	2629	623	22	4	154	4	CAPN2	1	223900487	Missense_Mutation	SNP	C	TCGA-HE-A5NI-01A-11D-A26P-10	15687435	223900487	25350134	10	37052											
ASXL2	55252	hgsc.bcm.edu	37	2	25972919	25972919	+	Silent	SNP	C	C	T			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr2:25972919C>T	ENST00000435504.4	-	12	1799	c.1506G>A	c.(1504-1506)gaG>gaA	p.E502E	ASXL2_ENST00000336112.4_Silent_p.E474E|ASXL2_ENST00000404843.1_Silent_p.E242E|ASXL2_ENST00000272341.4_Silent_p.E242E			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	502					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)					GATGGTTCTTCTCAGATTCCT	0.443																																																0													148	136	140					2																	25972919		1903	4132	6035	SO:0001819	synonymous_variant	55252					2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"additional sex combs like 2 (Drosophila)"			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.1506G>A	chr2.hg19:g.25972919C>T			Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Silent	SNP	ENST00000435504.4	hg19																																																																																					0.443	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263		T	25972919	C	T	25972919	2	4	674	1	0	0	0	0	0	0	0	1	1067	912	32	2		2	ASXL2	2	25972919	Silent	SNP	C	TCGA-HE-A5NI-01A-11D-A26P-10		25972919	217226454	11	37053											
HADHA	3030	hgsc.bcm.edu	37	2	26427053	26427053	+	Missense_Mutation	SNP	A	A	C			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr2:26427053A>C	ENST00000380649.3	-	12	1227	c.1098T>G	c.(1096-1098)atT>atG	p.I366M		NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	366					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)					CTGCACCAAGAATAGCCAGAT	0.468																																																0													223	216	219					2																	26427053		2203	4300	6503	SO:0001583	missense	3030			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.1098T>G	chr2.hg19:g.26427053A>C	ENSP00000370023:p.Ile366Met		B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Missense_Mutation	SNP	ENST00000380649.3	hg19	CCDS1721.1	.	.	.	.	.	.	.	.	.	.	A	17.98	3.521115	0.64747	.	.	ENSG00000084754	ENST00000380649	T	0.81163	-1.46	5.0	3.85	0.44370	3-hydroxyacyl-CoA dehydrogenase, NAD binding (1);NAD(P)-binding domain (1);	0.398782	0.28834	N	0.013995	D	0.83454	0.5258	M	0.65677	2.01	0.80722	D	1	P;P	0.40731	0.728;0.728	P;P	0.57057	0.812;0.812	T	0.81743	-0.0793	10	0.66056	D	0.02	-14.6089	1.9477	0.03360	0.5809:0.166:0.0927:0.1603	.	366;366	E9KL44;P40939	.;ECHA_HUMAN	M	366	ENSP00000370023:I366M	ENSP00000370023:I366M	I	-	3	3	HADHA	26280557	0.998000	0.40836	0.972000	0.41901	0.988000	0.76386	0.641000	0.24720	0.867000	0.35654	0.533000	0.62120	ATT		0.468	HADHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214051.1	NM_000182		C	26427053	A	C	26427053	3	2	674	1	0	0	0	0	1	0	0	0	6945	242	9	5	1229	5	HADHA	2	26427053	Missense_Mutation	SNP	A	TCGA-HE-A5NI-01A-11D-A26P-10	454134	26427053	216772320	12	37054											
TET3	200424	hgsc.bcm.edu	37	2	74320721	74320721	+	Silent	SNP	G	G	T			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr2:74320721G>T	ENST00000409262.3	+	7	2790	c.2790G>T	c.(2788-2790)ggG>ggT	p.G930G		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	930					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCTTCGCGGGGGTCACGGCCT	0.597																																																0													71	76	74					2																	74320721		2052	4226	6278	SO:0001819	synonymous_variant	200424				CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"tet oncogene family member 3"			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.2790G>T	chr2.hg19:g.74320721G>T			A6NEI3|Q86Z24|Q8TBM9	Silent	SNP	ENST00000409262.3	hg19	CCDS46339.1																																																																																				0.597	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4			T	74320721	G	T	74320721	2	4	674	1	0	0	0	0	0	0	0	1	15776	1219	43	4		4	TET3	2	74320721	Silent	SNP	G	TCGA-HE-A5NI-01A-11D-A26P-10	47893668	74320721	168878652	13	37055											
MAP4K4	9448	hgsc.bcm.edu	37	2	102493592	102493592	+	Silent	SNP	C	C	G	rs575144210		TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr2:102493592C>G	ENST00000347699.4	+	24	2934	c.2934C>G	c.(2932-2934)gtC>gtG	p.V978V	MAP4K4_ENST00000324219.4_Silent_p.V1059V|MAP4K4_ENST00000350878.4_Silent_p.V1018V|MAP4K4_ENST00000302217.5_Silent_p.V781V|MAP4K4_ENST00000413150.2_Silent_p.V893V|MAP4K4_ENST00000456652.1_Silent_p.V777V|MAP4K4_ENST00000350198.4_Silent_p.V897V|MAP4K4_ENST00000425019.1_Silent_p.V1011V	NM_001242559.1|NM_145687.3	NP_001229488.1|NP_663720.1	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	978	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.|Mediates interaction with RAP2A.				intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of JNK cascade (GO:0046328)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GCTTGAATGTCTTGGTGACAA	0.418													C|||	1	0.000199681	0.0	0.0	5008	,	,		22716	0.001		0.0	False		,,,				2504	0.0															0													180	173	175					2																	102493592		1970	4164	6134	SO:0001819	synonymous_variant	9448			AF096300	CCDS56130.1, CCDS74546.1	2q11.2-q12	2011-06-09			ENSG00000071054	ENSG00000071054		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6866	protein-coding gene	gene with protein product	"HPK/GCK-like kinase", "hepatocyte progenitor kinase-like/germinal center kinase-like kinase"	604666				9890973, 9734811, 9135144	Standard	NM_004834		Approved	HGK, NIK, FLH21957	uc002tbf.3	O95819	OTTHUMG00000155394	ENST00000347699.4:c.2934C>G	chr2.hg19:g.102493592C>G			O75172|Q9NST7	Silent	SNP	ENST00000347699.4	hg19	CCDS56130.1	.	.	.	.	.	.	.	.	.	.	C	8.328	0.825853	0.16749	.	.	ENSG00000071054	ENST00000421882	.	.	.	5.48	1.44	0.22558	.	.	.	.	.	T	0.53965	0.1829	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43972	-0.9358	4	.	.	.	.	6.5872	0.22626	0.1267:0.6675:0.0:0.2057	.	.	.	.	V	795	.	.	L	+	1	0	MAP4K4	101860024	1.000000	0.71417	0.986000	0.45419	0.981000	0.71138	1.591000	0.36665	0.368000	0.24481	-0.136000	0.14681	CTT		0.418	MAP4K4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339839.1	NM_004834		G	102493592	C	G	102493592	2	3	674	1	0	0	0	0	0	0	0	1	9264	900	32	4		4	MAP4K4	2	102493592	Silent	SNP	C	TCGA-HE-A5NI-01A-11D-A26P-10	28172871	102493592	140705781	14	37056											
CCDC74B	91409	hgsc.bcm.edu	37	2	130899739	130899739	+	Missense_Mutation	SNP	T	T	G			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr2:130899739T>G	ENST00000310463.6	-	3	648	c.511A>C	c.(511-513)Agc>Cgc	p.S171R	CCDC74B_ENST00000409943.3_Missense_Mutation_p.S105R|CCDC74B_ENST00000392984.3_Missense_Mutation_p.S273R|MED15P9_ENST00000427638.1_RNA|CCDC74B_ENST00000409128.1_Missense_Mutation_p.S147R	NM_207310.2	NP_997193.1	Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	171										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					GACTGGAAGCTTGACGTGGAG	0.647																																																0													98	73	81					2																	130899739		2201	4298	6499	SO:0001583	missense	91409				CCDS2155.1, CCDS58726.1	2q21.1	2006-11-29		2006-02-16	ENSG00000152076	ENSG00000152076			25267	protein-coding gene	gene with protein product							Standard	NM_001258307		Approved	DKFZp434E2321	uc002tqn.2	Q96LY2	OTTHUMG00000131629	ENST00000310463.6:c.511A>C	chr2.hg19:g.130899739T>G	ENSP00000308873:p.Ser171Arg		Q6NW18	Missense_Mutation	SNP	ENST00000310463.6	hg19	CCDS2155.1	.	.	.	.	.	.	.	.	.	.	.	13.91	2.377052	0.42105	.	.	ENSG00000152076	ENST00000409943;ENST00000310463;ENST00000392984;ENST00000409488;ENST00000409128	T;T;T;T	0.57273	1.77;1.86;1.79;0.41	2.21	2.21	0.28008	.	0.538074	0.15538	U	0.257135	T	0.62134	0.2403	M	0.69823	2.125	0.09310	N	1	D;D;D	0.71674	0.995;0.998;0.991	P;P;P	0.61070	0.763;0.862;0.883	T	0.48822	-0.9001	10	0.42905	T	0.14	-14.6217	6.277	0.20987	0.0:0.0:0.0:1.0	.	273;105;171	E7ESC5;Q96LY2-2;Q96LY2	.;.;CC74B_HUMAN	R	105;171;273;105;147	ENSP00000386294:S105R;ENSP00000308873:S171R;ENSP00000376710:S273R;ENSP00000386644:S147R	ENSP00000308873:S171R	S	-	1	0	CCDC74B	130616209	0.427000	0.25514	0.007000	0.13788	0.018000	0.09664	2.792000	0.47837	1.010000	0.39314	0.248000	0.18094	AGC		0.647	CCDC74B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254522.3	NM_207310		G	130899739	T	G	130899739	3	3	674	1	0	0	0	0	1	0	0	0	2850	1609	56	5	655	5	CCDC74B	2	130899739	Missense_Mutation	SNP	T	TCGA-HE-A5NI-01A-11D-A26P-10	28406147	130899739	112299634	15	37057											
C2orf69	205327	hgsc.bcm.edu	37	2	200790075	200790075	+	Missense_Mutation	SNP	T	T	A			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr2:200790075T>A	ENST00000319974.5	+	2	807	c.624T>A	c.(622-624)aaT>aaA	p.N208K	C2orf69_ENST00000491721.1_Intron	NM_153689.5	NP_710156.3	Q8N8R5	CB069_HUMAN	chromosome 2 open reading frame 69	208						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)|stomach(1)|urinary_tract(1)	11						AAAGTTTGAATGTTTGGAATA	0.348																																																0													52	52	52					2																	200790075		1819	4078	5897	SO:0001583	missense	205327				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.624T>A	chr2.hg19:g.200790075T>A	ENSP00000312770:p.Asn208Lys		Q8NE30	Missense_Mutation	SNP	ENST00000319974.5	hg19	CCDS46482.1	.	.	.	.	.	.	.	.	.	.	T	0.008	-1.923247	0.00498	.	.	ENSG00000178074	ENST00000319974	.	.	.	5.5	-1.14	0.09741	.	0.634163	0.16276	N	0.221571	T	0.06050	0.0157	N	0.01048	-1.04	0.09310	N	0.999996	B	0.06786	0.001	B	0.08055	0.003	T	0.29518	-1.0009	9	0.05620	T	0.96	-2.3723	1.9048	0.03275	0.1333:0.2218:0.111:0.5339	.	208	Q8N8R5	CB069_HUMAN	K	208	.	ENSP00000312770:N208K	N	+	3	2	C2orf69	200498320	0.999000	0.42202	0.155000	0.22561	0.064000	0.16182	0.773000	0.26661	-0.325000	0.08577	-0.250000	0.11733	AAT		0.348	C2orf69-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335446.1	NM_153689		A	200790075	T	A	200790075	3	1	674	1	0	0	0	0	1	0	0	0	2190	1461	51	5	630	5	C2orf69	2	200790075	Missense_Mutation	SNP	T	TCGA-HE-A5NI-01A-11D-A26P-10	69890336	200790075	42409298	16	37058											
CLK1	1195	hgsc.bcm.edu	37	2	201721517	201721517	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr2:201721517delG	ENST00000321356.4	-	9	1080	c.945delC	c.(943-945)accfs	p.T315fs	CLK1_ENST00000434813.2_Frame_Shift_Del_p.T357fs|CLK1_ENST00000409769.2_Frame_Shift_Del_p.T138fs	NM_004071.3	NP_004062.2	P49759	CLK1_HUMAN	CDC-like kinase 1	315	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						GATTTATTAAGGTGCGTTCAT	0.328																																																0													163	159	161					2																	201721517		2202	4300	6502	SO:0001589	frameshift_variant	1195			L29219	CCDS2331.1, CCDS54427.1	2q33	2008-05-02			ENSG00000013441	ENSG00000013441		"CDC-like kinases"	2068	protein-coding gene	gene with protein product		601951				9856501	Standard	NM_004071		Approved		uc002uwe.2	P49759	OTTHUMG00000132784	ENST00000321356.4:c.945delC	chr2.hg19:g.201721517delG	ENSP00000326830:p.Thr315fs		B4DFW7|Q0P694|Q8N5V8	Frame_Shift_Del	DEL	ENST00000321356.4	hg19	CCDS2331.1																																																																																				0.328	CLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256192.2			-	201721517	G	-	201721517	7	5	674	1	0	1	0	1	0	0	0	0	3538	987	35	0	529	0	CLK1	2	201721517	Frame_Shift_Del	DEL	G	TCGA-HE-A5NI-01A-11D-A26P-10	931442	201721517	41477856	17	37059											
ORC2L	4999	hgsc.bcm.edu	37	2	201778083	201778083	+	Missense_Mutation	SNP	T	T	A			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr2:201778083T>A	ENST00000234296.2	-	17	1831	c.1582A>T	c.(1582-1584)Agt>Tgt	p.S528C		NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2	528					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	condensed chromosome inner kinetochore (GO:0000939)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	DNA replication origin binding (GO:0003688)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						GTCAGATCACTATTGACGAGG	0.428																																																0													101	95	97					2																	201778083		2203	4300	6503	SO:0001583	missense	4999				CCDS2334.1	2q33	2010-10-12	2010-10-12	2010-10-12	ENSG00000115942	ENSG00000115942			8488	protein-coding gene	gene with protein product		601182	"origin recognition complex, subunit 2 (yeast homolog)-like", "origin recognition complex, subunit 2-like (yeast)", "origin recognition complex, subunit 2 homolog (yeast)"	ORC2L		8808289	Standard	NM_006190		Approved		uc002uwr.3	Q13416	OTTHUMG00000132783	ENST00000234296.2:c.1582A>T	chr2.hg19:g.201778083T>A	ENSP00000234296:p.Ser528Cys		Q13204|Q53TX5	Missense_Mutation	SNP	ENST00000234296.2	hg19	CCDS2334.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.506382	0.85282	.	.	ENSG00000115942	ENST00000234296	T	0.52057	0.68	5.6	5.6	0.85130	.	0.091390	0.85682	D	0.000000	T	0.76190	0.3953	M	0.92219	3.285	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82835	-0.0261	10	0.87932	D	0	-13.9094	15.7889	0.78338	0.0:0.0:0.0:1.0	.	528	Q13416	ORC2_HUMAN	C	528	ENSP00000234296:S528C	ENSP00000234296:S528C	S	-	1	0	ORC2	201486328	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	6.057000	0.71119	2.116000	0.64780	0.482000	0.46254	AGT		0.428	ORC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256191.2	NM_006190		A	201778083	T	A	201778083	3	1	674	1	0	0	0	0	1	0	0	0	11264	1522	53	5	159	5	ORC2L	2	201778083	Missense_Mutation	SNP	T	TCGA-HE-A5NI-01A-11D-A26P-10	56566	201778083	41421290	18	37060											
FN1	2335	hgsc.bcm.edu	37	2	216271073	216271073	+	Silent	SNP	C	C	T			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr2:216271073C>T	ENST00000359671.1	-	19	3139	c.2874G>A	c.(2872-2874)agG>agA	p.R958R	FN1_ENST00000421182.1_Silent_p.R958R|FN1_ENST00000345488.5_Silent_p.R958R|FN1_ENST00000357867.4_Silent_p.R958R|FN1_ENST00000446046.1_Silent_p.R958R|FN1_ENST00000443816.1_Silent_p.R958R|FN1_ENST00000356005.4_Silent_p.R958R|FN1_ENST00000354785.4_Silent_p.R958R|FN1_ENST00000323926.6_Silent_p.R958R|FN1_ENST00000336916.4_Silent_p.R958R|FN1_ENST00000432072.2_Silent_p.R958R|FN1_ENST00000346544.3_Silent_p.R958R|FN1_ENST00000357009.2_Silent_p.R958R			P02751	FINC_HUMAN	fibronectin 1	958	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316, 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)	CAAAGGTGTTCCTGCTGATGG	0.597																																																0													63	62	63					2																	216271073		2203	4300	6503	SO:0001819	synonymous_variant	2335				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.2874G>A	chr2.hg19:g.216271073C>T			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	Silent	SNP	ENST00000359671.1	hg19																																																																																					0.597	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		T	216271073	C	T	216271073	2	4	674	1	0	0	0	0	0	0	0	1	5964	854	30	2		2	FN1	2	216271073	Silent	SNP	C	TCGA-HE-A5NI-01A-11D-A26P-10	14492990	216271073	26928300	19	37061											
TRNT1	51095	hgsc.bcm.edu	37	3	3182301	3182309	+	In_Frame_Del	DEL	CAGAGATCT	CAGAGATCT	-			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	CAGAGATCT	CAGAGATCT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr3:3182301_3182309delCAGAGATCT	ENST00000251607.6	+	4	552_560	c.450_458delCAGAGATCT	c.(448-459)cgcagagatctc>cgc	p.RDL151del	TRNT1_ENST00000280591.6_In_Frame_Del_p.RDL151del	NM_182916.2	NP_886552	Q96Q11	TRNT1_HUMAN	tRNA nucleotidyl transferase, CCA-adding, 1	151					protein targeting to mitochondrion (GO:0006626)|tRNA 3'-end processing (GO:0042780)|tRNA 3'-terminal CCA addition (GO:0001680)	intracellular (GO:0005622)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP:3'-cytidine-cytidine-tRNA adenylyltransferase activity (GO:0052929)|CTP:3'-cytidine-tRNA cytidylyltransferase activity (GO:0052928)|CTP:tRNA cytidylyltransferase activity (GO:0052927)|tRNA adenylyltransferase activity (GO:0004810)|tRNA binding (GO:0000049)			breast(2)|endometrium(3)|large_intestine(4)|lung(2)|urinary_tract(1)	12				Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011)		ATGCGGAACGCAGAGATCTCACTATAAAT	0.354																																																0																																										SO:0001651	inframe_deletion	51095			AF151805	CCDS2561.2	3p25.1	2002-05-30			ENSG00000072756	ENSG00000072756	2.7.7.25		17341	protein-coding gene	gene with protein product		612907				10810093, 11504732	Standard	NM_182916		Approved	MtCCA, CGI-47, CCA1	uc003bpp.4	Q96Q11	OTTHUMG00000090259	ENST00000251607.6:c.450_458delCAGAGATCT	chr3.hg19:g.3182301_3182309delCAGAGATCT	ENSP00000251607:p.Arg151_Leu153del		A8K2Z6|B7WP13|C9JKA2|Q8ND57|Q9BS97|Q9Y362	In_Frame_Del	DEL	ENST00000251607.6	hg19	CCDS2561.2																																																																																				0.354	TRNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337616.1			-	3182309	CAGAGATCT	-	3182301	7	5	674	1	0	1	0	1	0	0	0	0	16578	697	25	0	460	0	TRNT1	3	3182301	In_Frame_Del	DEL	CAGAGATCT	TCGA-HE-A5NI-01A-11D-A26P-10		3182301	194840129	20	37062											
OSBPL10	114884	hgsc.bcm.edu	37	3	31705657	31705657	+	Missense_Mutation	SNP	G	G	A	rs375455808		TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr3:31705657G>A	ENST00000396556.2	-	11	2286	c.2164C>T	c.(2164-2166)Cgg>Tgg	p.R722W	OSBPL10_ENST00000438237.2_Missense_Mutation_p.R658W	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	722					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)		TCCAGGTGCCGCTTCTGCTCG	0.607																																																0								G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	110	100	103		1972,2164	5.2	1	3		103	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	OSBPL10	NM_001174060.1,NM_017784.4	101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	658/701,722/765	31705657	1,13005	2203	4300	6503	SO:0001583	missense	114884			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.2164C>T	chr3.hg19:g.31705657G>A	ENSP00000379804:p.Arg722Trp		B4E212|Q9BTU5	Missense_Mutation	SNP	ENST00000396556.2	hg19	CCDS2651.1	.	.	.	.	.	.	.	.	.	.	G	34	5.329303	0.95733	0.0	1.16E-4	ENSG00000144645	ENST00000396556;ENST00000438237	T;T	0.31247	1.5;1.5	5.25	5.25	0.73442	.	0.051590	0.85682	D	0.000000	T	0.57989	0.2091	M	0.77103	2.36	0.48696	D	0.999691	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.70935	0.971;0.93;0.969	T	0.57412	-0.7816	10	0.42905	T	0.14	-24.6464	19.2246	0.93814	0.0:0.0:1.0:0.0	.	658;722;490	B4E212;Q9BXB5;Q59ED9	.;OSB10_HUMAN;.	W	722;658	ENSP00000379804:R722W;ENSP00000406124:R658W	ENSP00000379804:R722W	R	-	1	2	OSBPL10	31680661	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.694000	0.74587	2.635000	0.89317	0.655000	0.94253	CGG		0.607	OSBPL10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253165.2			A	31705657	G	A	31705657	3	1	674	1	0	0	0	0	1	0	0	0	11277	1086	38	1	138	1	OSBPL10	3	31705657	Missense_Mutation	SNP	G	TCGA-HE-A5NI-01A-11D-A26P-10	28523356	31705657	166316773	21	37063											
PRKCD	5580	hgsc.bcm.edu	37	3	53220041	53220041	+	Nonsense_Mutation	SNP	A	A	T			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr3:53220041A>T	ENST00000394729.2	+	11	1412	c.1084A>T	c.(1084-1086)Aag>Tag	p.K362*	PRKCD_ENST00000330452.3_Nonsense_Mutation_p.K362*	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	362	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular senescence (GO:0090398)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-10 production (GO:0032613)|interleukin-12 production (GO:0032615)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|mRNA metabolic process (GO:0016071)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of filopodium assembly (GO:0051490)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil activation (GO:0042119)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of glucosylceramide catabolic process (GO:2000753)|positive regulation of phospholipid scramblase activity (GO:1900163)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of sphingomyelin catabolic process (GO:2000755)|positive regulation of superoxide anion generation (GO:0032930)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of receptor activity (GO:0010469)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|termination of signal transduction (GO:0023021)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|insulin receptor substrate binding (GO:0043560)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	Ingenol Mebutate(DB05013)|Tamoxifen(DB00675)	CAGCTTCGGGAAGGTGAGGGC	0.602																																																0													72	66	68					3																	53220041		2203	4300	6503	SO:0001587	stop_gained	5580				CCDS2870.1	3p21.31	2009-07-10			ENSG00000163932	ENSG00000163932	2.7.11.1		9399	protein-coding gene	gene with protein product		176977				8188219	Standard	NM_006254		Approved		uc003dgm.3	Q05655	OTTHUMG00000133659	ENST00000394729.2:c.1084A>T	chr3.hg19:g.53220041A>T	ENSP00000378217:p.Lys362*		B0KZ81|B2R834|Q15144|Q86XJ6	Nonsense_Mutation	SNP	ENST00000394729.2	hg19	CCDS2870.1	.	.	.	.	.	.	.	.	.	.	A	41	8.637830	0.98895	.	.	ENSG00000163932	ENST00000394729;ENST00000330452	.	.	.	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.9599	0.64172	1.0:0.0:0.0:0.0	.	.	.	.	X	362	.	ENSP00000331602:K362X	K	+	1	0	PRKCD	53195081	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	9.283000	0.95860	1.990000	0.58119	0.482000	0.46254	AAG		0.602	PRKCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257818.1			T	53220041	A	T	53220041	4	4	674	1	0	0	0	0	0	1	0	0	12514	247	9	5	1122	5	PRKCD	3	53220041	Nonsense_Mutation	SNP	A	TCGA-HE-A5NI-01A-11D-A26P-10	21514384	53220041	144802389	22	37064											
C3orf63	23272	hgsc.bcm.edu	37	3	56667344	56667344	+	Missense_Mutation	SNP	C	C	G			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr3:56667344C>G	ENST00000493960.2	-	18	3485	c.3475G>C	c.(3475-3477)Gta>Cta	p.V1159L	FAM208A_ENST00000431842.2_Missense_Mutation_p.V722L|FAM208A_ENST00000355628.5_Missense_Mutation_p.V1098L	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	1159							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						TTCATTTCTACTTCAGTTAAA	0.423																																																0													161	153	156					3																	56667344		2203	4300	6503	SO:0001583	missense	23272			AF180425	CCDS2877.1, CCDS46853.1	3p14.3	2011-09-14	2011-09-14	2011-09-14	ENSG00000163946	ENSG00000163946			30314	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 63"	C3orf63		10470851, 11149944	Standard	NM_015224		Approved	se89-1, RAP140, KIAA1105	uc003die.4	Q9UK61	OTTHUMG00000158827	ENST00000493960.2:c.3475G>C	chr3.hg19:g.56667344C>G	ENSP00000417509:p.Val1159Leu		A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Missense_Mutation	SNP	ENST00000493960.2	hg19	CCDS46853.1	.	.	.	.	.	.	.	.	.	.	C	10.01	1.233960	0.22626	.	.	ENSG00000163946	ENST00000431842;ENST00000493960;ENST00000355628	T;T;T	0.11930	2.73;2.92;2.92	5.71	2.97	0.34412	.	0.560812	0.17265	N	0.180629	T	0.14141	0.0342	L	0.59436	1.845	0.33043	D	0.531757	B;B;B;B	0.29481	0.052;0.082;0.046;0.245	B;B;B;B	0.26202	0.067;0.053;0.045;0.049	T	0.07731	-1.0757	10	0.49607	T	0.09	0.2694	9.0639	0.36451	0.0:0.7733:0.0:0.2267	.	1159;1098;722;1159	Q9UK61-3;Q9UK61-4;Q9UK61-2;Q9UK61	.;.;.;F208A_HUMAN	L	722;1159;1098	ENSP00000399410:V722L;ENSP00000417509:V1159L;ENSP00000347845:V1098L	ENSP00000347845:V1098L	V	-	1	0	C3orf63	56642384	0.810000	0.29049	0.970000	0.41538	0.807000	0.45602	0.627000	0.24506	0.444000	0.26612	-0.145000	0.13849	GTA		0.423	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352352.2	NM_015224		G	56667344	C	G	56667344	3	3	674	1	0	0	0	0	1	0	0	0	2241	565	20	4	1625	4	C3orf63	3	56667344	Missense_Mutation	SNP	C	TCGA-HE-A5NI-01A-11D-A26P-10	3447303	56667344	141355086	23	37065											
FRMD4B	23150	hgsc.bcm.edu	37	3	69247894	69247894	+	Missense_Mutation	SNP	T	T	C			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr3:69247894T>C	ENST00000398540.3	-	12	991	c.908A>G	c.(907-909)tAt>tGt	p.Y303C	FRMD4B_ENST00000478263.1_De_novo_Start_OutOfFrame|FRMD4B_ENST00000542259.1_Missense_Mutation_p.Y249C	NM_015123.1	NP_055938	Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	303	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				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)		CTCACGGAAATATAAGTTCTC	0.333																																																0													49	44	45					3																	69247894		1798	4063	5861	SO:0001583	missense	23150			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.908A>G	chr3.hg19:g.69247894T>C	ENSP00000381549:p.Tyr303Cys		Q8TAI3	Missense_Mutation	SNP	ENST00000398540.3	hg19	CCDS46863.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.628228	0.87560	.	.	ENSG00000114541	ENST00000398540;ENST00000542259;ENST00000462512	D;D;D	0.87334	-2.24;-2.24;-2.24	5.73	5.73	0.89815	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.93360	0.7883	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;0.973	D;D	0.97110	1.0;0.934	D	0.94028	0.7298	10	0.72032	D	0.01	-14.0669	16.026	0.80545	0.0:0.0:0.0:1.0	.	147;303	B4DHD5;Q9Y2L6	.;FRM4B_HUMAN	C	303;249;14	ENSP00000381549:Y303C;ENSP00000437658:Y249C;ENSP00000419869:Y14C	ENSP00000381549:Y303C	Y	-	2	0	FRMD4B	69330584	1.000000	0.71417	0.999000	0.59377	0.953000	0.61014	8.040000	0.89188	2.191000	0.70037	0.533000	0.62120	TAT		0.333	FRMD4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352111.1			C	69247894	T	C	69247894	3	2	674	1	0	0	0	0	1	0	0	0	6054	1406	49	3	2244	3	FRMD4B	3	69247894	Missense_Mutation	SNP	T	TCGA-HE-A5NI-01A-11D-A26P-10	12580550	69247894	128774536	24	37066											
CEP97	79598	hgsc.bcm.edu	37	3	101450739	101450739	+	Missense_Mutation	SNP	T	T	C			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr3:101450739T>C	ENST00000341893.3	+	5	1255	c.503T>C	c.(502-504)cTa>cCa	p.L168P	CEP97_ENST00000327230.4_Missense_Mutation_p.L168P|CEP97_ENST00000494050.1_Missense_Mutation_p.L168P			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	168					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						CCTGCTTACCTACCCAGAAGT	0.358																																																0													175	171	172					3																	101450739		2203	4300	6503	SO:0001583	missense	79598			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.503T>C	chr3.hg19:g.101450739T>C	ENSP00000342510:p.Leu168Pro		B5MDY8|Q8NA71|Q9H5T9	Missense_Mutation	SNP	ENST00000341893.3	hg19	CCDS2944.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.711642	0.89112	.	.	ENSG00000182504	ENST00000341893;ENST00000327230;ENST00000494050	T;T;T	0.54866	0.55;0.55;0.55	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.78220	0.4249	M	0.90542	3.125	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	0.83115	-0.0121	10	0.87932	D	0	-9.0356	16.2507	0.82485	0.0:0.0:0.0:1.0	.	168;168;168	E9PG22;Q8IW35-2;Q8IW35	.;.;CEP97_HUMAN	P	168	ENSP00000342510:L168P;ENSP00000325881:L168P;ENSP00000418185:L168P	ENSP00000325881:L168P	L	+	2	0	CEP97	102933429	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.867000	0.87062	2.237000	0.73441	0.528000	0.53228	CTA		0.358	CEP97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353597.2	NM_024548		C	101450739	T	C	101450739	3	2	674	1	0	0	0	0	1	0	0	0	3265	1522	53	3	521	3	CEP97	3	101450739	Missense_Mutation	SNP	T	TCGA-HE-A5NI-01A-11D-A26P-10	32202845	101450739	96571691	25	37067											
ITGB5	3693	hgsc.bcm.edu	37	3	124536482	124536482	+	Missense_Mutation	SNP	T	T	A			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr3:124536482T>A	ENST00000296181.4	-	8	1410	c.1114A>T	c.(1114-1116)Att>Ttt	p.I372F		NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	372	VWFA.				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-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|epithelial cell-cell adhesion (GO:0090136)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alphav-beta5 complex (GO:0034684)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		TATGCATTAATAATCAGTTGA	0.463																																																0													90	93	92					3																	124536482		2203	4300	6503	SO:0001583	missense	3693			J05633	CCDS3030.1	3q21.2	2010-03-23			ENSG00000082781	ENSG00000082781		"Integrins"	6160	protein-coding gene	gene with protein product		147561				2211615	Standard	NM_002213		Approved		uc003eho.3	P18084	OTTHUMG00000159432	ENST00000296181.4:c.1114A>T	chr3.hg19:g.124536482T>A	ENSP00000296181:p.Ile372Phe		B0LPF8|B2RD70	Missense_Mutation	SNP	ENST00000296181.4	hg19	CCDS3030.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.39|10.39	1.336008|1.336008	0.24253|0.24253	.|.	.|.	ENSG00000082781|ENSG00000082781	ENST00000296181|ENST00000481591	D|.	0.97731|.	-4.51|.	5.91|5.91	3.56|3.56	0.40772|0.40772	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);|.	0.258920|.	0.37761|.	N|.	0.001959|.	T|T	0.58177|0.58177	0.2104|0.2104	M|M	0.62723|0.62723	1.935|1.935	0.48087|0.48087	D|D	0.99958|0.99958	D|.	0.53745|.	0.962|.	P|.	0.54401|.	0.751|.	T|T	0.55829|0.55829	-0.8079|-0.8079	10|5	0.87932|.	D|.	0|.	.|.	4.6147|4.6147	0.12420|0.12420	0.0:0.4306:0.0:0.5694|0.0:0.4306:0.0:0.5694	.|.	372|.	P18084|.	ITB5_HUMAN|.	F|F	372|106	ENSP00000296181:I372F|.	ENSP00000296181:I372F|.	I|L	-|-	1|3	0|2	ITGB5|ITGB5	126019172|126019172	0.989000|0.989000	0.36119|0.36119	0.981000|0.981000	0.43875|0.43875	0.079000|0.079000	0.17450|0.17450	2.520000|2.520000	0.45554|0.45554	1.062000|1.062000	0.40625|0.40625	-0.290000|-0.290000	0.09829|0.09829	ATT|TTA		0.463	ITGB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355286.3	NM_002213		A	124536482	T	A	124536482	3	1	674	1	0	0	0	0	1	0	0	0	7900	1406	49	5	1317	5	ITGB5	3	124536482	Missense_Mutation	SNP	T	TCGA-HE-A5NI-01A-11D-A26P-10	23085743	124536482	73485948	26	37068											
IFT122	55764	hgsc.bcm.edu	37	3	129200472	129200472	+	Missense_Mutation	SNP	G	G	C			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr3:129200472G>C	ENST00000348417.2	+	14	1665	c.1588G>C	c.(1588-1590)Gcc>Ccc	p.A530P	IFT122_ENST00000349441.2_Missense_Mutation_p.A419P|IFT122_ENST00000507564.1_Missense_Mutation_p.A522P|IFT122_ENST00000440957.2_Missense_Mutation_p.A321P|IFT122_ENST00000504021.1_Missense_Mutation_p.A424P|IFT122_ENST00000347300.2_Missense_Mutation_p.A471P|IFT122_ENST00000296266.3_Missense_Mutation_p.A581P|IFT122_ENST00000431818.2_Missense_Mutation_p.A380P	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	530					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						TAAGAAGCTGGCCGTGGTAGA	0.537																																																0													36	37	36					3																	129200472		2202	4280	6482	SO:0001583	missense	55764			AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"WD repeat domain containing", "Intraflagellar transport homologs"	13556	protein-coding gene	gene with protein product		606045	"WD repeat domain 10", "intraflagellar transport 122 homolog (Chlamydomonas)"	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.1588G>C	chr3.hg19:g.129200472G>C	ENSP00000324005:p.Ala530Pro		B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Missense_Mutation	SNP	ENST00000348417.2	hg19	CCDS3061.1	.	.	.	.	.	.	.	.	.	.	G	31	5.058399	0.93846	.	.	ENSG00000163913	ENST00000347300;ENST00000296266;ENST00000507564;ENST00000454840;ENST00000431818;ENST00000504021;ENST00000349441;ENST00000348417;ENST00000446384;ENST00000440957;ENST00000509522	T;T;T;D;T;T;T;D;T	0.91237	2.88;0.84;0.84;-2.81;1.18;1.18;0.84;-2.81;0.28	5.5	5.5	0.81552	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.052903	0.85682	D	0.000000	D	0.96676	0.8915	M	0.92507	3.315	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D;D;D	0.97110	0.998;0.991;1.0;1.0;0.999;1.0;0.996;0.998	D	0.97335	0.9953	10	0.87932	D	0	-22.9133	19.3987	0.94619	0.0:0.0:1.0:0.0	.	321;522;424;370;419;471;530;581	E9PDG2;E7EQF4;B4DEY9;B4DPW7;Q9BTY4;Q9HBG6-3;Q9HBG6;G3XAB1	.;.;.;.;.;.;IF122_HUMAN;.	P	471;581;522;471;380;424;419;530;370;321;45	ENSP00000323973:A471P;ENSP00000296266:A581P;ENSP00000425536:A522P;ENSP00000410946:A380P;ENSP00000422179:A424P;ENSP00000324165:A419P;ENSP00000324005:A530P;ENSP00000401569:A321P;ENSP00000424727:A45P	ENSP00000296266:A581P	A	+	1	0	IFT122	130683162	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.113000	0.94321	2.553000	0.86117	0.585000	0.79938	GCC		0.537	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1	NM_018262		C	129200472	G	C	129200472	3	2	674	1	0	0	0	0	1	0	0	0	7557	1203	42	4	1799	4	IFT122	3	129200472	Missense_Mutation	SNP	G	TCGA-HE-A5NI-01A-11D-A26P-10	4663990	129200472	68821958	27	37069											
DZIP1L	199221	hgsc.bcm.edu	37	3	137790541	137790541	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr3:137790541G>A	ENST00000327532.2	-	12	1921	c.1559C>T	c.(1558-1560)gCg>gTg	p.A520V	DZIP1L_ENST00000469243.1_Missense_Mutation_p.A520V|DZIP1L_ENST00000488595.1_Intron	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	520					cilium assembly (GO:0042384)	ciliary basal body (GO:0036064)	metal ion binding (GO:0046872)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						TCTCTCCTTCGCTCTGCTGGT	0.582																																																0													90	92	91					3																	137790541		2203	4300	6503	SO:0001583	missense	199221			AK057406	CCDS3096.1, CCDS54645.1	3q22.3	2013-05-22	2013-05-22		ENSG00000158163	ENSG00000158163			26551	protein-coding gene	gene with protein product			"DAZ interacting protein 1-like"			12477932	Standard	NM_173543		Approved	FLJ32844, DZIP2	uc003erq.3	Q8IYY4	OTTHUMG00000159819	ENST00000327532.2:c.1559C>T	chr3.hg19:g.137790541G>A	ENSP00000332148:p.Ala520Val		C9JUG5|Q96M38	Missense_Mutation	SNP	ENST00000327532.2	hg19	CCDS3096.1	.	.	.	.	.	.	.	.	.	.	G	4.821	0.152566	0.09185	.	.	ENSG00000158163	ENST00000327532;ENST00000469243;ENST00000536706	T;T	0.38240	1.15;1.55	4.86	-3.99	0.04069	.	0.809238	0.10642	N	0.650958	T	0.12263	0.0298	N	0.03324	-0.35	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.001	T	0.38351	-0.9665	10	0.02654	T	1	-4.7251	11.046	0.47859	0.5108:0.0:0.4892:0.0	.	520;520	Q8IYY4-2;Q8IYY4	.;DZI1L_HUMAN	V	520	ENSP00000332148:A520V;ENSP00000419486:A520V	ENSP00000332148:A520V	A	-	2	0	DZIP1L	139273231	0.009000	0.17119	0.025000	0.17156	0.009000	0.06853	0.410000	0.21098	-0.777000	0.04572	-1.004000	0.02495	GCG		0.582	DZIP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357548.1	NM_173543		A	137790541	G	A	137790541	3	1	674	1	0	0	0	0	1	0	0	0	4866	1087	38	1	773	1	DZIP1L	3	137790541	Missense_Mutation	SNP	G	TCGA-HE-A5NI-01A-11D-A26P-10	8590069	137790541	60231889	28	37070											
KNG1	3827	hgsc.bcm.edu	37	3	186445075	186445075	+	Missense_Mutation	SNP	A	A	C			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr3:186445075A>C	ENST00000265023.4	+	5	826	c.614A>C	c.(613-615)aAt>aCt	p.N205T	RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000287611.2_Missense_Mutation_p.N205T|KNG1_ENST00000447445.1_Intron	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	205	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)		GTGCAAACGAATTGTTCCAAA	0.348																																																0													105	109	108					3																	186445075		2203	4300	6503	SO:0001583	missense	3827				CCDS3281.1, CCDS43183.1, CCDS54695.1	3q27.3	2014-05-15	2004-05-21	2004-05-26	ENSG00000113889	ENSG00000113889		"Endogenous ligands"	6383	protein-coding gene	gene with protein product	"alpha-2-thiol proteinase inhibitor", "bradykinin"	612358	"kininogen"	KNG, BDK		1733668	Standard	NM_000893		Approved	BK	uc011bsa.2	P01042	OTTHUMG00000150348	ENST00000265023.4:c.614A>C	chr3.hg19:g.186445075A>C	ENSP00000265023:p.Asn205Thr		A8K474|B2RCR2|C9JEX1|P01043|Q53EQ0|Q6PAU9|Q7M4P1	Missense_Mutation	SNP	ENST00000265023.4	hg19	CCDS43183.1	.	.	.	.	.	.	.	.	.	.	A	17.29	3.353296	0.61293	.	.	ENSG00000113889	ENST00000287611;ENST00000265023;ENST00000432028	T;T	0.26067	1.76;1.76	4.98	3.82	0.43975	Proteinase inhibitor I25, cystatin (2);	0.085672	0.49916	D	0.000134	T	0.40473	0.1118	L	0.52011	1.625	0.80722	D	1	D;D	0.89917	0.974;1.0	D;D	0.85130	0.961;0.997	T	0.15263	-1.0443	10	0.54805	T	0.06	-28.4834	7.9142	0.29808	0.9039:0.0:0.0961:0.0	.	205;205	P01042;P01042-2	KNG1_HUMAN;.	T	205;205;193	ENSP00000287611:N205T;ENSP00000265023:N205T	ENSP00000265023:N205T	N	+	2	0	KNG1	187927769	0.996000	0.38824	0.989000	0.46669	0.901000	0.52897	4.757000	0.62213	0.998000	0.38996	0.528000	0.53228	AAT		0.348	KNG1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317738.1	NM_001102416		C	186445075	A	C	186445075	3	2	674	1	0	0	0	0	1	0	0	0	8429	101	4	5	632	5	KNG1	3	186445075	Missense_Mutation	SNP	A	TCGA-HE-A5NI-01A-11D-A26P-10	48654534	186445075	11577355	29	37071											
RNF168	165918	hgsc.bcm.edu	37	3	196214285	196214286	+	Frame_Shift_Ins	INS	-	-	T	rs375146769		TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr3:196214285_196214286insT	ENST00000318037.3	-	3	1136_1137	c.542_543insA	c.(541-543)aagfs	p.K181fs		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	181					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)			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)		CAATGCTTAGCTTTCTTGCCAG	0.47																																																0																																										SO:0001589	frameshift_variant	165918			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.543dupA	chr3.hg19:g.196214288_196214288dupT	ENSP00000320898:p.Lys181fs		Q8NA67|Q96NS4	Frame_Shift_Ins	INS	ENST00000318037.3	hg19	CCDS3317.1																																																																																				0.47	RNF168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340778.1	NM_152617		T	196214286	-	T	196214285	7	5	674	1	0	1	1	0	0	0	0	0	13465	796	28	0	1188	0	RNF168	3	196214285	Frame_Shift_Ins	INS	-	TCGA-HE-A5NI-01A-11D-A26P-10	9769210	196214285	1808145	30	37072											
TIGD4	201798	hgsc.bcm.edu	37	4	153690653	153690653	+	Missense_Mutation	SNP	G	G	C			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr4:153690653G>C	ENST00000304337.2	-	2	2324	c.1504C>G	c.(1504-1506)Ctt>Gtt	p.L502V		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	502						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					AAATTTTCAAGGTCTGCTAAA	0.284																																																0													34	39	38					4																	153690653		2202	4299	6501	SO:0001583	missense	201798			AK058054	CCDS34079.1	4q31.23	2008-02-05							18335	protein-coding gene	gene with protein product							Standard	NM_145720		Approved		uc003imy.3	Q8IY51		ENST00000304337.2:c.1504C>G	chr4.hg19:g.153690653G>C	ENSP00000355162:p.Leu502Val		Q96LP5	Missense_Mutation	SNP	ENST00000304337.2	hg19	CCDS34079.1	.	.	.	.	.	.	.	.	.	.	G	4.593	0.110214	0.08780	.	.	ENSG00000169989	ENST00000304337	T	0.17854	2.25	6.08	2.33	0.28932	Centromere protein Cenp-B, dimerisation domain (1);	0.493860	0.17134	N	0.185704	T	0.10981	0.0268	L	0.29908	0.895	0.26016	N	0.981923	B	0.06786	0.001	B	0.06405	0.002	T	0.24048	-1.0171	10	0.56958	D	0.05	-8.793	4.401	0.11386	0.0666:0.2372:0.3299:0.3663	.	502	Q8IY51	TIGD4_HUMAN	V	502	ENSP00000355162:L502V	ENSP00000355162:L502V	L	-	1	0	TIGD4	153910103	0.997000	0.39634	0.991000	0.47740	0.706000	0.40770	0.275000	0.18698	0.118000	0.18165	-0.293000	0.09583	CTT		0.284	TIGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365028.1	NM_145720		C	153690653	G	C	153690653	3	2	674	1	0	0	0	0	1	0	0	0	15903	1000	35	4	38	4	TIGD4	4	153690653	Missense_Mutation	SNP	G	TCGA-HE-A5NI-01A-11D-A26P-10		153690653	37463623	31	37073											
MFAP3L	9848	hgsc.bcm.edu	37	4	170913188	170913189	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr4:170913188_170913189insA	ENST00000361618.3	-	3	877_878	c.570_571insT	c.(568-573)tttaggfs	p.R191fs	RP11-6E9.4_ENST00000508955.1_RNA|MFAP3L_ENST00000393704.3_Frame_Shift_Ins_p.R88fs	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	191						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)		CCTTCGGTCCTAAAGAACTCAT	0.525																																																0																																										SO:0001589	frameshift_variant	9848			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.571dupT	chr4.hg19:g.170913191_170913191dupA	ENSP00000354583:p.Arg191fs		A8K1X6|D3DP35|Q4W5N7|Q4W5N9|Q6TNA8|Q9BVE1|Q9BXK0	Frame_Shift_Ins	INS	ENST00000361618.3	hg19	CCDS34103.1																																																																																				0.525	MFAP3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363043.2	NM_021647		A	170913189	-	A	170913188	7	5	674	1	0	1	1	0	0	0	0	0	9518	1521	53	0	662	0	MFAP3L	4	170913188	Frame_Shift_Ins	INS	-	TCGA-HE-A5NI-01A-11D-A26P-10	17222535	170913188	20241088	32	37074											
CARD6	84674	hgsc.bcm.edu	37	5	40852818	40852818	+	Missense_Mutation	SNP	T	T	C			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr5:40852818T>C	ENST00000254691.5	+	3	1583	c.1384T>C	c.(1384-1386)Tac>Cac	p.Y462H	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	462					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						GCGTCTAGGATACTGTAGCTT	0.433																																																0													87	91	89					5																	40852818		2203	4300	6503	SO:0001583	missense	84674			AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.1384T>C	chr5.hg19:g.40852818T>C	ENSP00000254691:p.Tyr462His		Q52LR2	Missense_Mutation	SNP	ENST00000254691.5	hg19	CCDS3935.1	.	.	.	.	.	.	.	.	.	.	T	4.601	0.111736	0.08831	.	.	ENSG00000132357	ENST00000254691	T	0.11169	2.8	5.48	-5.23	0.02798	.	1.493650	0.03820	N	0.267293	T	0.04724	0.0128	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.34950	-0.9808	10	0.35671	T	0.21	3.1866	3.3078	0.07006	0.209:0.5204:0.1052:0.1655	.	462	Q9BX69	CARD6_HUMAN	H	462	ENSP00000254691:Y462H	ENSP00000254691:Y462H	Y	+	1	0	CARD6	40888575	0.000000	0.05858	0.002000	0.10522	0.968000	0.65278	-0.582000	0.05814	-1.244000	0.02516	-0.248000	0.11899	TAC		0.433	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			C	40852818	T	C	40852818	3	2	674	1	0	0	0	0	1	0	0	0	2652	1406	49	3	1394	3	CARD6	5	40852818	Missense_Mutation	SNP	T	TCGA-HE-A5NI-01A-11D-A26P-10		40852818	140062442	33	37075											
MSH3	4437	hgsc.bcm.edu	37	5	80037368	80037368	+	Splice_Site	SNP	G	G	C	rs550626088		TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr5:80037368G>C	ENST00000265081.6	+	11	1733		c.e11+1		MSH3_ENST00000512258.1_Splice_Site	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3						ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		ACAGAATCAGGTCAGGCAAAT	0.333								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)											0													53	58	57					5																	80037368		2203	4297	6500	SO:0001630	splice_region_variant	4437			U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"Divergent upstream protein", "Mismatch repair protein 1"	600887	"mutS (E. coli) homolog 3", "mutS homolog 3 (E. coli)"				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.1653+1G>C	chr5.hg19:g.80037368G>C			A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Splice_Site	SNP	ENST00000265081.6	hg19	CCDS34195.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.770243	0.69992	.	.	ENSG00000113318	ENST00000265081;ENST00000535995	.	.	.	4.79	4.79	0.61399	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9659	0.86285	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MSH3	80073124	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	6.767000	0.74975	2.369000	0.80426	0.650000	0.86243	.		0.333	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439	Intron	C	80037368	G	C	80037368	5	2	674	1	0	0	0	0	0	0	1	0	9873	1275	44	4	1696	4	MSH3	5	80037368	Splice_Site	SNP	G	TCGA-HE-A5NI-01A-11D-A26P-10	39184550	80037368	100877892	34	37076											
PAM	5066	hgsc.bcm.edu	37	5	102203042	102203042	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr5:102203042delT	ENST00000438793.3	+	2	625	c.155delT	c.(154-156)attfs	p.I52fs	PAM_ENST00000348126.2_Frame_Shift_Del_p.I52fs|PAM_ENST00000513648.1_3'UTR|PAM_ENST00000274392.9_De_novo_Start_OutOfFrame|PAM_ENST00000379787.4_De_novo_Start_InFrame|PAM_ENST00000346918.2_Frame_Shift_Del_p.I52fs|PAM_ENST00000304400.7_Frame_Shift_Del_p.I52fs|PAM_ENST00000455264.2_Frame_Shift_Del_p.I52fs	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	52	Peptidylglycine alpha-hydroxylating monooxygenase. {ECO:0000250}.				central nervous system development (GO:0007417)|heart development (GO:0007507)|lactation (GO:0007595)|limb development (GO:0060173)|long-chain fatty acid metabolic process (GO:0001676)|maternal process involved in female pregnancy (GO:0060135)|odontogenesis (GO:0042476)|ovulation cycle process (GO:0022602)|peptide amidation (GO:0001519)|protein amidation (GO:0018032)|protein homooligomerization (GO:0051260)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of protein secretion (GO:0050708)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to pH (GO:0009268)|toxin metabolic process (GO:0009404)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network (GO:0005802)	calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|L-ascorbic acid binding (GO:0031418)|peptidylamidoglycolate lyase activity (GO:0004598)|peptidylglycine monooxygenase activity (GO:0004504)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	GTAGTTCCTATTGATTCATCA	0.373																																																0													168	148	155					5																	102203042		2203	4300	6503	SO:0001589	frameshift_variant	5066			AB095007	CCDS4092.1, CCDS4093.1, CCDS4094.1, CCDS43348.1, CCDS54885.1	5q	2008-02-05			ENSG00000145730	ENSG00000145730	1.14.17.3		8596	protein-coding gene	gene with protein product	"peptidyl-alpha-hydroxyglycine alpha-amidating lyase", "peptidylglycine alpha-hydroxylating monooxygenase"	170270				2357221	Standard	NM_000919		Approved	PAL, PHM	uc003knt.3	P19021	OTTHUMG00000128729	ENST00000438793.3:c.155delT	chr5.hg19:g.102203042delT	ENSP00000396493:p.Ile52fs		A6NMR0|A8K293|O43211|O95080|Q16252|Q16253|Q54A45|Q86U53|Q8WVC7|Q9UCG0	Frame_Shift_Del	DEL	ENST00000438793.3	hg19	CCDS54885.1																																																																																				0.373	PAM-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250640.2	NM_000919		-	102203042	T	-	102203042	7	5	674	1	0	1	0	1	0	0	0	0	11414	1493	52	0	161	0	PAM	5	102203042	Frame_Shift_Del	DEL	T	TCGA-HE-A5NI-01A-11D-A26P-10	22165674	102203042	78712218	35	37077	276	3									
PAM	5066	hgsc.bcm.edu	37	5	102203043	102203044	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	TG	TG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr5:102203043_102203044delTG	ENST00000438793.3	+	2	626_627	c.156_157delTG	c.(154-159)attgatfs	p.D53fs	PAM_ENST00000348126.2_Frame_Shift_Del_p.D53fs|PAM_ENST00000513648.1_3'UTR|PAM_ENST00000274392.9_5'UTR|PAM_ENST00000379787.4_5'UTR|PAM_ENST00000346918.2_Frame_Shift_Del_p.D53fs|PAM_ENST00000304400.7_Frame_Shift_Del_p.D53fs|PAM_ENST00000455264.2_Frame_Shift_Del_p.D53fs	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	53	Peptidylglycine alpha-hydroxylating monooxygenase. {ECO:0000250}.				central nervous system development (GO:0007417)|heart development (GO:0007507)|lactation (GO:0007595)|limb development (GO:0060173)|long-chain fatty acid metabolic process (GO:0001676)|maternal process involved in female pregnancy (GO:0060135)|odontogenesis (GO:0042476)|ovulation cycle process (GO:0022602)|peptide amidation (GO:0001519)|protein amidation (GO:0018032)|protein homooligomerization (GO:0051260)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of protein secretion (GO:0050708)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to pH (GO:0009268)|toxin metabolic process (GO:0009404)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network (GO:0005802)	calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|L-ascorbic acid binding (GO:0031418)|peptidylamidoglycolate lyase activity (GO:0004598)|peptidylglycine monooxygenase activity (GO:0004504)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	TAGTTCCTATTGATTCATCAGA	0.376																																																0																																										SO:0001589	frameshift_variant	5066			AB095007	CCDS4092.1, CCDS4093.1, CCDS4094.1, CCDS43348.1, CCDS54885.1	5q	2008-02-05			ENSG00000145730	ENSG00000145730	1.14.17.3		8596	protein-coding gene	gene with protein product	"peptidyl-alpha-hydroxyglycine alpha-amidating lyase", "peptidylglycine alpha-hydroxylating monooxygenase"	170270				2357221	Standard	NM_000919		Approved	PAL, PHM	uc003knt.3	P19021	OTTHUMG00000128729	ENST00000438793.3:c.156_157delTG	chr5.hg19:g.102203043_102203044delTG	ENSP00000396493:p.Asp53fs		A6NMR0|A8K293|O43211|O95080|Q16252|Q16253|Q54A45|Q86U53|Q8WVC7|Q9UCG0	Frame_Shift_Del	DEL	ENST00000438793.3	hg19	CCDS54885.1																																																																																				0.376	PAM-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250640.2	NM_000919		-	102203044	TG	-	102203043	7	5	674	1	0	1	0	1	0	0	0	0	11414	1800	63	0	162	0	PAM	5	102203043	Frame_Shift_Del	DEL	TG	TCGA-HE-A5NI-01A-11D-A26P-10	1	102203043	78712217	36	37078	276	3									
PAM	5066	hgsc.bcm.edu	37	5	102203044	102203044	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr5:102203044G>A	ENST00000438793.3	+	2	627	c.157G>A	c.(157-159)Gat>Aat	p.D53N	PAM_ENST00000348126.2_Missense_Mutation_p.D53N|PAM_ENST00000513648.1_3'UTR|PAM_ENST00000274392.9_5'UTR|PAM_ENST00000379787.4_5'UTR|PAM_ENST00000346918.2_Missense_Mutation_p.D53N|PAM_ENST00000304400.7_Missense_Mutation_p.D53N|PAM_ENST00000455264.2_Missense_Mutation_p.D53N	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	53	Peptidylglycine alpha-hydroxylating monooxygenase. {ECO:0000250}.				central nervous system development (GO:0007417)|heart development (GO:0007507)|lactation (GO:0007595)|limb development (GO:0060173)|long-chain fatty acid metabolic process (GO:0001676)|maternal process involved in female pregnancy (GO:0060135)|odontogenesis (GO:0042476)|ovulation cycle process (GO:0022602)|peptide amidation (GO:0001519)|protein amidation (GO:0018032)|protein homooligomerization (GO:0051260)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of protein secretion (GO:0050708)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to pH (GO:0009268)|toxin metabolic process (GO:0009404)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network (GO:0005802)	calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|L-ascorbic acid binding (GO:0031418)|peptidylamidoglycolate lyase activity (GO:0004598)|peptidylglycine monooxygenase activity (GO:0004504)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	AGTTCCTATTGATTCATCAGA	0.373																																																0													166	147	153					5																	102203044		2203	4300	6503	SO:0001583	missense	5066			AB095007	CCDS4092.1, CCDS4093.1, CCDS4094.1, CCDS43348.1, CCDS54885.1	5q	2008-02-05			ENSG00000145730	ENSG00000145730	1.14.17.3		8596	protein-coding gene	gene with protein product	"peptidyl-alpha-hydroxyglycine alpha-amidating lyase", "peptidylglycine alpha-hydroxylating monooxygenase"	170270				2357221	Standard	NM_000919		Approved	PAL, PHM	uc003knt.3	P19021	OTTHUMG00000128729	ENST00000438793.3:c.157G>A	chr5.hg19:g.102203044G>A	ENSP00000396493:p.Asp53Asn		A6NMR0|A8K293|O43211|O95080|Q16252|Q16253|Q54A45|Q86U53|Q8WVC7|Q9UCG0	Missense_Mutation	SNP	ENST00000438793.3	hg19	CCDS54885.1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.347969	0.41599	.	.	ENSG00000145730	ENST00000511839;ENST00000509832;ENST00000438793;ENST00000346918;ENST00000348126;ENST00000304400;ENST00000455264	T;T;T;T;T;T;T	0.64085	0.66;-0.08;1.36;1.36;1.36;1.36;1.36	5.68	5.68	0.88126	Copper type II, ascorbate-dependent monooxygenase, N-terminal (1);PHM/PNGase F domain (1);	0.264128	0.41396	D	0.000899	T	0.54481	0.1861	L	0.29908	0.895	0.80722	D	1	B;B;B;B;B	0.12630	0.004;0.006;0.006;0.006;0.006	B;B;B;B;B	0.12156	0.003;0.006;0.006;0.006;0.007	T	0.45760	-0.9239	10	0.39692	T	0.17	.	19.791	0.96456	0.0:0.0:1.0:0.0	.	53;53;53;53;53	P19021;P19021-4;P19021-3;P19021-5;P19021-2	AMD_HUMAN;.;.;.;.	N	53	ENSP00000426448:D53N;ENSP00000423763:D53N;ENSP00000396493:D53N;ENSP00000282992:D53N;ENSP00000314638:D53N;ENSP00000306100:D53N;ENSP00000403461:D53N	ENSP00000306100:D53N	D	+	1	0	PAM	102230943	1.000000	0.71417	0.985000	0.45067	0.013000	0.08279	5.413000	0.66399	2.677000	0.91161	0.491000	0.48974	GAT		0.373	PAM-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250640.2	NM_000919		A	102203044	G	A	102203044	3	1	674	1	0	0	0	0	1	0	0	0	11414	1290	45	2	163	2	PAM	5	102203044	Missense_Mutation	SNP	G	TCGA-HE-A5NI-01A-11D-A26P-10	1	102203044	78712216	37	37079	276	3									
SYCP2L	221711	hgsc.bcm.edu	37	6	10931696	10931696	+	Missense_Mutation	SNP	A	A	G			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr6:10931696A>G	ENST00000283141.6	+	20	1953	c.1657A>G	c.(1657-1659)Agt>Ggt	p.S553G		NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	553						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)			CCCTCCCAGTAGTGGCAGTGG	0.398																																																0													162	153	156					6																	10931696		1894	4121	6015	SO:0001583	missense	221711			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.1657A>G	chr6.hg19:g.10931696A>G	ENSP00000283141:p.Ser553Gly		A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Missense_Mutation	SNP	ENST00000283141.6	hg19	CCDS43423.1	.	.	.	.	.	.	.	.	.	.	A	12.52	1.964123	0.34659	.	.	ENSG00000153157	ENST00000283141	T	0.31247	1.5	4.54	3.37	0.38596	.	0.357110	0.31648	N	0.007296	T	0.19327	0.0464	L	0.52011	1.625	0.24843	N	0.992458	D	0.60160	0.987	P	0.50270	0.636	T	0.03325	-1.1048	10	0.59425	D	0.04	.	8.5559	0.33480	0.7752:0.2248:0.0:0.0	.	553	Q5T4T6	SYC2L_HUMAN	G	553	ENSP00000283141:S553G	ENSP00000283141:S553G	S	+	1	0	SYCP2L	11039682	0.004000	0.15560	0.006000	0.13384	0.043000	0.13939	0.576000	0.23744	0.822000	0.34565	0.460000	0.39030	AGT		0.398	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039845.3	NM_194299		G	10931696	A	G	10931696	3	3	674	1	0	0	0	0	1	0	0	0	15438	420	15	3	1735	3	SYCP2L	6	10931696	Missense_Mutation	SNP	A	TCGA-HE-A5NI-01A-11D-A26P-10		10931696	160183371	38	37080											
GPLD1	2822	hgsc.bcm.edu	37	6	24450018	24450018	+	Splice_Site	SNP	T	T	C			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr6:24450018T>C	ENST00000230036.1	-	15	1555	c.1445A>G	c.(1444-1446)aAa>aGa	p.K482R		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	482					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to calcium ion (GO:0071277)|cellular response to cholesterol (GO:0071397)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|cellular response to pH (GO:0071467)|cellular response to triglyceride (GO:0071401)|chondrocyte differentiation (GO:0002062)|complement receptor mediated signaling pathway (GO:0002430)|GPI anchor release (GO:0006507)|hematopoietic stem cell migration (GO:0035701)|hematopoietic stem cell migration to bone marrow (GO:0097241)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cell proliferation (GO:0008285)|negative regulation of triglyceride catabolic process (GO:0010897)|ossification (GO:0001503)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of secretion (GO:0051047)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cellular response to insulin stimulus (GO:1900076)|response to glucose (GO:0009749)|transepithelial transport (GO:0070633)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|proteinaceous extracellular matrix (GO:0005578)	glycosylphosphatidylinositol phospholipase D activity (GO:0004621)|phospholipase D activity (GO:0004630)|sodium channel regulator activity (GO:0017080)			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						CAGCCTTACTTTGTAGGTGAG	0.632																																																0													67	71	69					6																	24450018		2203	4300	6503	SO:0001630	splice_region_variant	2822			L11701	CCDS4553.1	6p22.1	2008-02-05			ENSG00000112293	ENSG00000112293			4459	protein-coding gene	gene with protein product		602515				11072085	Standard	NM_001503		Approved		uc003ned.2	P80108	OTTHUMG00000016104	ENST00000230036.1:c.1446+1A>G	chr6.hg19:g.24450018T>C			Q15127|Q15128|Q2M2F2|Q5T3Y0|Q7Z6T8|Q8TCV0|Q8WW82|Q96ID6|Q9H167|Q9H4M1|Q9UJC9	Missense_Mutation	SNP	ENST00000230036.1	hg19	CCDS4553.1	.	.	.	.	.	.	.	.	.	.	T	9.926	1.213638	0.22289	.	.	ENSG00000112293	ENST00000230036	T	0.66995	-0.24	5.5	-3.95	0.04118	.	0.800408	0.11589	N	0.548920	T	0.20455	0.0492	N	0.12527	0.23	0.53005	D	0.999964	B	0.09022	0.002	B	0.14578	0.011	T	0.12142	-1.0559	10	0.12766	T	0.61	-0.5038	9.3674	0.38232	0.0:0.1973:0.5455:0.2572	.	482	P80108	PHLD_HUMAN	R	482	ENSP00000230036:K482R	ENSP00000230036:K482R	K	-	2	0	GPLD1	24557997	0.006000	0.16342	0.147000	0.22382	0.634000	0.38068	-0.438000	0.06905	-0.534000	0.06315	0.482000	0.46254	AAA		0.632	GPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043315.1	NM_001503	Missense_Mutation	C	24450018	T	C	24450018	5	2	674	1	0	0	0	0	0	0	1	0	6616	1855	64	3	1121	3	GPLD1	6	24450018	Splice_Site	SNP	T	TCGA-HE-A5NI-01A-11D-A26P-10	13518322	24450018	146665049	39	37081											
NOTCH4	4855	hgsc.bcm.edu	37	6	32169043	32169043	+	Silent	SNP	C	C	T			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr6:32169043C>T	ENST00000375023.3	-	22	4128	c.3990G>A	c.(3988-3990)agG>agA	p.R1330R		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1330					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						CACGATCCTTCCTTACCCAGA	0.622																																																0													59	65	63					6																	32169043		1511	2709	4220	SO:0001819	synonymous_variant	4855				CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"Ankyrin repeat domain containing"	7884	protein-coding gene	gene with protein product		164951	"Notch (Drosophila) homolog 4", "Notch homolog 4 (Drosophila)"	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.3990G>A	chr6.hg19:g.32169043C>T			B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Silent	SNP	ENST00000375023.3	hg19	CCDS34420.1																																																																																				0.622	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			T	32169043	C	T	32169043	2	4	674	1	0	0	0	0	0	0	0	1	10553	854	30	2		2	NOTCH4	6	32169043	Silent	SNP	C	TCGA-HE-A5NI-01A-11D-A26P-10	7719025	32169043	138946024	40	37082											
C6orf106	64771	hgsc.bcm.edu	37	6	34664262	34664262	+	Missense_Mutation	SNP	T	T	C	rs369638409		TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr6:34664262T>C	ENST00000374023.3	-	1	362	c.119A>G	c.(118-120)aAt>aGt	p.N40S	RP11-140K17.3_ENST00000606496.1_RNA|C6orf106_ENST00000374026.3_Missense_Mutation_p.N40S|RP11-140K17.3_ENST00000606971.1_RNA	NM_024294.2	NP_077270.1	Q9H6K1	CF106_HUMAN	chromosome 6 open reading frame 106	40										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10						ACCGGCAGGATTGAGCTGGAA	0.662																																																0								T	SER/ASN,SER/ASN	0,4406		0,0,2203	62	43	49		119,119	1.8	1	6		49	1,8599		0,1,4299	no	missense,missense	C6orf106	NM_022758.4,NM_024294.2	46,46	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	40/233,40/299	34664262	1,13005	2203	4300	6503	SO:0001583	missense	64771			AF052106	CCDS4795.1, CCDS4796.1	6p21.31	2012-01-27			ENSG00000196821	ENSG00000196821			21215	protein-coding gene	gene with protein product		612217					Standard	XM_005249298		Approved	FLJ22195, dJ391O22.4	uc003ojr.2	Q9H6K1	OTTHUMG00000014553	ENST00000374023.3:c.119A>G	chr6.hg19:g.34664262T>C	ENSP00000363135:p.Asn40Ser		B2R8K7|Q5VV77|Q96MG5|Q9BUR9	Missense_Mutation	SNP	ENST00000374023.3	hg19	CCDS4796.1	.	.	.	.	.	.	.	.	.	.	T	10.61	1.399579	0.25291	0.0	1.16E-4	ENSG00000196821	ENST00000374023;ENST00000374026	.	.	.	2.99	1.78	0.24846	UBA-like (1);	0.185370	0.46442	D	0.000288	T	0.21186	0.0510	L	0.46670	1.46	0.80722	D	1	B;P	0.46142	0.207;0.873	B;B	0.44163	0.219;0.443	T	0.04178	-1.0971	9	0.33940	T	0.23	-7.2216	2.9531	0.05868	0.2121:0.1602:0.0:0.6277	.	40;40	Q9H6K1-2;Q9H6K1	.;CF106_HUMAN	S	40	.	ENSP00000363135:N40S	N	-	2	0	C6orf106	34772240	1.000000	0.71417	1.000000	0.80357	0.515000	0.34225	3.873000	0.56093	0.535000	0.28714	-0.669000	0.03829	AAT		0.662	C6orf106-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040251.1	NM_022758		C	34664262	T	C	34664262	3	2	674	1	0	0	0	0	1	0	0	0	2321	1493	52	3	797	3	C6orf106	6	34664262	Missense_Mutation	SNP	T	TCGA-HE-A5NI-01A-11D-A26P-10	2495219	34664262	136450805	41	37083											
DST	667	hgsc.bcm.edu	37	6	56501422	56501422	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr6:56501422C>T	ENST00000361203.3	-	19	2367	c.2360G>A	c.(2359-2361)tGg>tAg	p.W787*	DST_ENST00000244364.6_Nonsense_Mutation_p.W461*|DST_ENST00000312431.6_Nonsense_Mutation_p.W787*|DST_ENST00000421834.2_Nonsense_Mutation_p.W787*|DST_ENST00000370788.2_Nonsense_Mutation_p.W787*|DST_ENST00000370765.6_Nonsense_Mutation_p.W461*|DST_ENST00000446842.2_Nonsense_Mutation_p.W461*|DST_ENST00000370754.5_Nonsense_Mutation_p.W965*|DST_ENST00000518935.1_Nonsense_Mutation_p.W461*|DST_ENST00000370769.4_Nonsense_Mutation_p.W787*			Q03001	DYST_HUMAN	dystonin	787					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)			GATCCAGCTCCACTGCGTCTG	0.453																																																0													171	142	152					6																	56501422		2203	4300	6503	SO:0001587	stop_gained	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.2360G>A	chr6.hg19:g.56501422C>T	ENSP00000354508:p.Trp787*		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Nonsense_Mutation	SNP	ENST00000361203.3	hg19		.	.	.	.	.	.	.	.	.	.	C	38	6.731382	0.97796	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	.	.	.	5.25	5.25	0.73442	.	0.000000	0.46145	D	0.000304	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.029	0.92948	0.0:1.0:0.0:0.0	.	.	.	.	X	461;965;787;787;461;787;787;787;461;827;461;461	.	ENSP00000244364:W461X	W	-	2	0	DST	56609381	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.644000	0.83416	2.726000	0.93360	0.579000	0.79373	TGG		0.453	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		T	56501422	C	T	56501422	4	4	674	1	0	0	0	0	0	1	0	0	4785	595	21	2	19077	2	DST	6	56501422	Nonsense_Mutation	SNP	C	TCGA-HE-A5NI-01A-11D-A26P-10	21837160	56501422	114613645	42	37084											
KIAA1009	22832	hgsc.bcm.edu	37	6	84872967	84872967	+	Missense_Mutation	SNP	T	T	G			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr6:84872967T>G	ENST00000403245.3	-	19	2522	c.2408A>C	c.(2407-2409)gAa>gCa	p.E803A	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Missense_Mutation_p.E727A	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)		TTTGATGTCTTCCAATAAACT	0.318																																																0													180	165	170					6																	84872967		2203	4300	6503	SO:0001583	missense	22832																														ENST00000403245.3:c.2408A>C	chr6.hg19:g.84872967T>G	ENSP00000385215:p.Glu803Ala			Missense_Mutation	SNP	ENST00000403245.3	hg19	CCDS34494.2	.	.	.	.	.	.	.	.	.	.	T	18.77	3.694256	0.68386	.	.	ENSG00000135315	ENST00000257766;ENST00000403245	T;T	0.33216	1.42;1.42	4.82	4.82	0.62117	.	0.000000	0.64402	D	0.000005	T	0.43523	0.1251	M	0.66506	2.035	0.46437	D	0.999046	D	0.71674	0.998	D	0.81914	0.995	T	0.37686	-0.9695	10	0.44086	T	0.13	-22.1089	14.6743	0.68967	0.0:0.0:0.0:1.0	.	803	Q5TB80	QN1_HUMAN	A	727;803	ENSP00000257766:E727A;ENSP00000385215:E803A	ENSP00000257766:E727A	E	-	2	0	KIAA1009	84929686	1.000000	0.71417	0.998000	0.56505	0.910000	0.53928	6.642000	0.74329	1.912000	0.55364	0.460000	0.39030	GAA		0.318	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317315.1			G	84872967	T	G	84872967	3	3	674	1	0	0	0	0	1	0	0	0	8205	1783	62	5	1839	5	KIAA1009	6	84872967	Missense_Mutation	SNP	T	TCGA-HE-A5NI-01A-11D-A26P-10	28371545	84872967	86242100	43	37085											
ZNF292	23036	hgsc.bcm.edu	37	6	87943085	87943085	+	Missense_Mutation	SNP	T	T	A			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr6:87943085T>A	ENST00000369577.3	+	5	624	c.581T>A	c.(580-582)aTg>aAg	p.M194K	ZNF292_ENST00000339907.4_Missense_Mutation_p.M189K	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	194						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)		TTGTTGGATATGAGAATTAAA	0.313																																																0													81	77	78					6																	87943085		1825	4076	5901	SO:0001583	missense	23036			AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"Zinc fingers, C2H2-type"	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.581T>A	chr6.hg19:g.87943085T>A	ENSP00000358590:p.Met194Lys		Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	hg19	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.376146	0.82682	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.10860	2.83;2.85	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.24198	0.0586	M	0.72894	2.215	0.58432	D	0.999993	D	0.76494	0.999	D	0.79784	0.993	T	0.01524	-1.1333	10	0.87932	D	0	.	15.658	0.77158	0.0:0.0:0.0:1.0	.	194	O60281	ZN292_HUMAN	K	194;189	ENSP00000358590:M194K;ENSP00000342847:M189K	ENSP00000342847:M189K	M	+	2	0	ZNF292	87999804	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.183000	0.77697	2.158000	0.67659	0.460000	0.39030	ATG		0.313	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		A	87943085	T	A	87943085	3	1	674	1	0	0	0	0	1	0	0	0	17831	1464	51	5	599	5	ZNF292	6	87943085	Missense_Mutation	SNP	T	TCGA-HE-A5NI-01A-11D-A26P-10	3070118	87943085	83171982	44	37086											
PNRC1	10957	hgsc.bcm.edu	37	6	89793801	89793801	+	Silent	SNP	T	T	C			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr6:89793801T>C	ENST00000336032.3	+	2	987	c.870T>C	c.(868-870)ccT>ccC	p.P290P	PNRC1_ENST00000369472.1_Silent_p.P105P|PNRC1_ENST00000354922.3_Silent_p.P105P	NM_006813.2	NP_006804.1	Q12796	PNRC1_HUMAN	proline-rich nuclear receptor coactivator 1	290					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(76;3.64e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.102)		CACCTTCTCCTAGTGTTCTTC	0.413										Multiple Myeloma(7;0.094)																																						0													81	83	83					6																	89793801		2203	4300	6503	SO:0001819	synonymous_variant	10957			U03105	CCDS5018.1	6q16.1	2008-02-05	2003-09-25	2003-09-26	ENSG00000146278	ENSG00000146278			17278	protein-coding gene	gene with protein product		606714	"proline rich 2"	PROL2		7578250	Standard	NM_006813		Approved	B4-2, PRR2	uc003pmv.3	Q12796	OTTHUMG00000015191	ENST00000336032.3:c.870T>C	chr6.hg19:g.89793801T>C			B2R6Q0|E1P515|Q5T7J6|Q7Z5N0	Silent	SNP	ENST00000336032.3	hg19	CCDS5018.1																																																																																				0.413	PNRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041471.1	NM_006813		C	89793801	T	C	89793801	2	2	674	1	0	0	0	0	0	0	0	1	12176	1509	53	3		3	PNRC1	6	89793801	Silent	SNP	T	TCGA-HE-A5NI-01A-11D-A26P-10	1850716	89793801	81321266	45	37087											
MCM9	254394	hgsc.bcm.edu	37	6	119245294	119245294	+	Splice_Site	SNP	T	T	C			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr6:119245294T>C	ENST00000316316.6	-	3	591		c.e3-2		MCM9_ENST00000316068.3_Splice_Site	NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN	minichromosome maintenance complex component 9						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)		CAGGCAAACCTGATGGAGAAA	0.393																																																0													118	126	124					6																	119245294		2201	4300	6501	SO:0001630	splice_region_variant	254394			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.305-2A>G	chr6.hg19:g.119245294T>C			B4DR30|B9DI77|Q2KHJ0|Q8N5S5|Q9HCV5	Splice_Site	SNP	ENST00000316316.6	hg19	CCDS56447.1	.	.	.	.	.	.	.	.	.	.	T	16.26	3.073982	0.55646	.	.	ENSG00000111877	ENST00000316316;ENST00000316068;ENST00000425154	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5716	0.76341	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	MCM9	119286993	1.000000	0.71417	0.963000	0.40424	0.735000	0.41995	7.499000	0.81566	2.072000	0.62099	0.460000	0.39030	.		0.393	MCM9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042005.4	NM_153255	Intron	C	119245294	T	C	119245294	5	2	674	1	0	0	0	0	0	0	1	0	9396	1594	55	3	892	3	MCM9	6	119245294	Splice_Site	SNP	T	TCGA-HE-A5NI-01A-11D-A26P-10	29451493	119245294	51869773	46	37088											
FGFR1OP	11116	hgsc.bcm.edu	37	6	167435950	167435950	+	Silent	SNP	C	C	A			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr6:167435950C>A	ENST00000366847.4	+	8	864	c.633C>A	c.(631-633)ccC>ccA	p.P211P	FGFR1OP_ENST00000349556.4_Silent_p.P191P|RP11-517H2.6_ENST00000609590.1_RNA	NM_007045.2	NP_008976.1	O95684	FR1OP_HUMAN	FGFR1 oncogene partner	211					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|mitotic cell cycle (GO:0000278)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein tyrosine kinase activity (GO:0061099)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|protein tyrosine kinase inhibitor activity (GO:0030292)			large_intestine(2)|ovary(1)|stomach(1)	4		Breast(66;1.48e-05)|Ovarian(120;0.0607)		OV - Ovarian serous cystadenocarcinoma(33;1.73e-19)|BRCA - Breast invasive adenocarcinoma(81;5.1e-06)|GBM - Glioblastoma multiforme(31;0.00231)		TGTCAGAACCCAAGAGCAAAA	0.428			T	FGFR1	"MPD, NHL"																																		Dom	yes		6	6q27	11116	FGFR1 oncogene partner (FOP)		L	0													96	92	93					6																	167435950		2203	4300	6503	SO:0001819	synonymous_variant	11116			Y18046	CCDS5296.1, CCDS5297.1, CCDS75550.1	6q27	2008-02-05			ENSG00000213066	ENSG00000213066			17012	protein-coding gene	gene with protein product		605392				9949182, 10373756	Standard	NM_007045		Approved	FOP	uc003qvj.3	O95684	OTTHUMG00000016011	ENST00000366847.4:c.633C>A	chr6.hg19:g.167435950C>A			A8K1D1|B2R705|Q49AI0|Q5R3F6|Q96EW1	Silent	SNP	ENST00000366847.4	hg19	CCDS5296.1																																																																																				0.428	FGFR1OP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043099.2	NM_007045		A	167435950	C	A	167435950	2	1	674	1	0	0	0	0	0	0	0	1	5866	581	21	4		4	FGFR1OP	6	167435950	Silent	SNP	C	TCGA-HE-A5NI-01A-11D-A26P-10	48190656	167435950	3679117	47	37089											
WBSCR27	155368	hgsc.bcm.edu	37	7	73249148	73249148	+	Silent	SNP	A	A	C			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr7:73249148A>C	ENST00000297873.4	-	6	712	c.663T>G	c.(661-663)tcT>tcG	p.S221S		NM_152559.2	NP_689772.2	Q8N6F8	WBS27_HUMAN	Williams Beuren syndrome chromosome region 27	221										NS(1)|central_nervous_system(1)|lung(2)|prostate(1)	5		Lung NSC(55;0.159)				TCCTTGGCAGAGATGCCGGAT	0.637																																																0													68	61	63					7																	73249148		2203	4300	6503	SO:0001819	synonymous_variant	155368			AF534110	CCDS5561.1	7q11.23	2004-07-05			ENSG00000165171	ENSG00000165171			19068	protein-coding gene	gene with protein product		612546					Standard	NM_152559		Approved		uc003tzj.2	Q8N6F8	OTTHUMG00000130033	ENST00000297873.4:c.663T>G	chr7.hg19:g.73249148A>C				Silent	SNP	ENST00000297873.4	hg19	CCDS5561.1																																																																																				0.637	WBSCR27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252312.1	NM_152559		C	73249148	A	C	73249148	2	2	674	1	0	0	0	0	0	0	0	1	17271	291	11	5		5	WBSCR27	7	73249148	Silent	SNP	A	TCGA-HE-A5NI-01A-11D-A26P-10		73249148	85889515	48	37090											
GDAP1	54332	hgsc.bcm.edu	37	8	75274164	75274164	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr8:75274164delA	ENST00000220822.7	+	4	610	c.530delA	c.(529-531)gaafs	p.E177fs	GDAP1_ENST00000521096.1_3'UTR|GDAP1_ENST00000434412.2_Frame_Shift_Del_p.E109fs	NM_001040875.2|NM_018972.2	NP_001035808.1|NP_061845.2	Q8TB36	GDAP1_HUMAN	ganglioside induced differentiation associated protein 1	177	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)			CTTGCTGAAGAAAACCCAGAT	0.373																																																0													118	110	113					8																	75274164		2203	4300	6503	SO:0001589	frameshift_variant	54332				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.530delA	chr8.hg19:g.75274164delA	ENSP00000220822:p.Glu177fs		A8K957|E7FJF3|E7FJF4	Frame_Shift_Del	DEL	ENST00000220822.7	hg19	CCDS34911.1																																																																																				0.373	GDAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379061.1	NM_018972		-	75274164	A	-	75274164	7	5	674	1	0	1	0	1	0	0	0	0	6309	246	9	0	544	0	GDAP1	8	75274164	Frame_Shift_Del	DEL	A	TCGA-HE-A5NI-01A-11D-A26P-10		75274164	71089858	49	37091											
ACER2	340485	hgsc.bcm.edu	37	9	19435060	19435060	+	Silent	SNP	C	C	T			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr9:19435060C>T	ENST00000340967.2	+	4	507	c.481C>T	c.(481-483)Ctg>Ttg	p.L161L	ACER2_ENST00000380376.1_Silent_p.L112L	NM_001010887.2	NP_001010887.2	Q5QJU3	ACER2_HUMAN	alkaline ceramidase 2	161					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						TTGCACTGCACTGCTCATCGC	0.557																																																0													219	164	182					9																	19435060		2203	4300	6503	SO:0001819	synonymous_variant	340485			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.481C>T	chr9.hg19:g.19435060C>T			A2A3R8|Q569G5|Q5VZR7|Q71RD2	Silent	SNP	ENST00000340967.2	hg19	CCDS34992.1																																																																																				0.557	ACER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051864.1	XM_294540		T	19435060	C	T	19435060	2	4	674	1	0	0	0	0	0	0	0	1	139	564	20	2		2	ACER2	9	19435060	Silent	SNP	C	TCGA-HE-A5NI-01A-11D-A26P-10		19435060	121778371	50	37092											
GPR21	2844	hgsc.bcm.edu	37	9	125797664	125797664	+	Missense_Mutation	SNP	G	G	T			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr9:125797664G>T	ENST00000373642.1	+	1	859	c.819G>T	c.(817-819)ttG>ttT	p.L273F	RABGAP1_ENST00000373647.4_Intron|RABGAP1_ENST00000493854.1_Intron|RABGAP1_ENST00000373643.5_Intron	NM_005294.1	NP_005285.1	Q99679	GPR21_HUMAN	G protein-coupled receptor 21	273					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						TCTACTTCTTGTTGGAAAGCT	0.458																																																0													148	128	135					9																	125797664		2203	4300	6503	SO:0001583	missense	2844			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.819G>T	chr9.hg19:g.125797664G>T	ENSP00000362746:p.Leu273Phe		B2R8W9|Q6NXU2	Missense_Mutation	SNP	ENST00000373642.1	hg19	CCDS6849.1	.	.	.	.	.	.	.	.	.	.	G	10.49	1.365299	0.24684	.	.	ENSG00000188394	ENST00000373642	T	0.41758	0.99	5.93	1.91	0.25777	GPCR, rhodopsin-like superfamily (1);	0.281802	0.23228	U	0.050493	T	0.33352	0.0860	M	0.64630	1.985	0.80722	D	1	P	0.41232	0.743	B	0.36244	0.22	T	0.05099	-1.0906	10	0.44086	T	0.13	-6.8862	5.7514	0.18148	0.2774:0.2257:0.4969:0.0	.	273	Q99679	GPR21_HUMAN	F	273	ENSP00000362746:L273F	ENSP00000362746:L273F	L	+	3	2	GPR21	124837485	0.993000	0.37304	0.989000	0.46669	0.976000	0.68499	0.535000	0.23114	0.080000	0.16959	-0.218000	0.12543	TTG		0.458	GPR21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053965.1	NM_005294		T	125797664	G	T	125797664	3	4	674	1	0	0	0	0	1	0	0	0	6683	1368	48	4	821	4	GPR21	9	125797664	Missense_Mutation	SNP	G	TCGA-HE-A5NI-01A-11D-A26P-10	106362604	125797664	15415767	51	37093											
SPTAN1	6709	hgsc.bcm.edu	37	9	131386741	131386741	+	Silent	SNP	G	G	A			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr9:131386741G>A	ENST00000372731.4	+	45	6062	c.5952G>A	c.(5950-5952)aaG>aaA	p.K1984K	SPTAN1_ENST00000372739.3_Silent_p.K1989K|SPTAN1_ENST00000358161.5_Silent_p.K1989K	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1984					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						TCAACTGGAAGGCGGACGTGG	0.562																																					NSCLC(120;833 1744 2558 35612 37579)											0													64	53	57					9																	131386741		2203	4300	6503	SO:0001819	synonymous_variant	6709			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"EF-hand domain containing"	11273	protein-coding gene	gene with protein product	"alpha-fodrin"	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.5952G>A	chr9.hg19:g.131386741G>A			Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Silent	SNP	ENST00000372731.4	hg19	CCDS6905.1																																																																																				0.562	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		A	131386741	G	A	131386741	2	1	674	1	0	0	0	0	0	0	0	1	15122	991	35	2		2	SPTAN1	9	131386741	Silent	SNP	G	TCGA-HE-A5NI-01A-11D-A26P-10	5589077	131386741	9826690	52	37094											
KIF5B	3799	hgsc.bcm.edu	37	10	32320043	32320043	+	Silent	SNP	A	A	G			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr10:32320043A>G	ENST00000302418.4	-	14	1996	c.1539T>C	c.(1537-1539)acT>acC	p.T513T		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	513					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|cytoplasm organization (GO:0007028)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane potential (GO:0042391)|stress granule disassembly (GO:0035617)|vesicle transport along microtubule (GO:0047496)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				CATATTCCTTAGTTTTGTCTT	0.313			T	"RET, ALK"	NSCLC																																		Dom	yes		10	10p11.22	3799	kinesin family member 5B		E	0													103	101	102					10																	32320043		2203	4300	6503	SO:0001819	synonymous_variant	3799			X65873	CCDS7171.1	10p11.22	2007-02-13			ENSG00000170759	ENSG00000170759		"Kinesins"	6324	protein-coding gene	gene with protein product		602809		KNS1		1607388	Standard	NM_004521		Approved	KNS	uc001iwe.4	P33176	OTTHUMG00000017913	ENST00000302418.4:c.1539T>C	chr10.hg19:g.32320043A>G			A0AVB2|Q5VZ85	Silent	SNP	ENST00000302418.4	hg19	CCDS7171.1																																																																																				0.313	KIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047467.1	NM_004521		G	32320043	A	G	32320043	2	3	674	1	0	0	0	0	0	0	0	1	8308	407	15	3		3	KIF5B	10	32320043	Silent	SNP	A	TCGA-HE-A5NI-01A-11D-A26P-10		32320043	103214704	53	37095											
CYP26A1	1592	hgsc.bcm.edu	37	10	94834101	94834101	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr10:94834101G>A	ENST00000224356.4	+	2	271	c.226G>A	c.(226-228)Ggc>Agc	p.G76S	CYP26A1_ENST00000371531.1_Missense_Mutation_p.G7S|CYP26A1_ENST00000394139.1_Missense_Mutation_p.G7S	NM_000783.3	NP_000774.2	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A, polypeptide 1	76					anterior/posterior pattern specification (GO:0009952)|cellular response to retinoic acid (GO:0071300)|central nervous system development (GO:0007417)|metabolic process (GO:0008152)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|neural crest cell development (GO:0014032)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Colorectal(252;0.122)			Acitretin(DB00459)|Ketoconazole(DB01026)|Vitamin A(DB00162)	CAGGAAATACGGCTTCATCTA	0.657																																																0													53	56	55					10																	94834101		2203	4300	6503	SO:0001583	missense	1592			AF005418	CCDS7426.1, CCDS7427.1	10q23-q24	2003-10-06	2003-01-14		ENSG00000095596	ENSG00000095596		"Cytochrome P450s"	2603	protein-coding gene	gene with protein product		602239	"cytochrome P450, subfamily XXVIA, polypeptide 1"			9228017, 9521883	Standard	NM_000783		Approved	P450RAI, CP26, CYP26, P450RAI1	uc001kil.2	O43174	OTTHUMG00000018765	ENST00000224356.4:c.226G>A	chr10.hg19:g.94834101G>A	ENSP00000224356:p.Gly76Ser		B3KNI4|Q5VXH9|Q5VXI0	Missense_Mutation	SNP	ENST00000224356.4	hg19	CCDS7426.1	.	.	.	.	.	.	.	.	.	.	G	34	5.324133	0.95708	.	.	ENSG00000095596	ENST00000371531;ENST00000224356;ENST00000394139	T;T;T	0.78003	-1.14;-1.14;-1.14	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	D	0.85504	0.5712	L	0.52759	1.655	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84672	0.0712	10	0.45353	T	0.12	-21.1018	18.8725	0.92320	0.0:0.0:1.0:0.0	.	76	O43174	CP26A_HUMAN	S	7;76;7	ENSP00000360586:G7S;ENSP00000224356:G76S;ENSP00000377695:G7S	ENSP00000224356:G76S	G	+	1	0	CYP26A1	94824091	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.187000	0.94912	2.711000	0.92665	0.561000	0.74099	GGC		0.657	CYP26A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049408.3			A	94834101	G	A	94834101	3	1	674	1	0	0	0	0	1	0	0	0	4157	1116	39	1	232	1	CYP26A1	10	94834101	Missense_Mutation	SNP	G	TCGA-HE-A5NI-01A-11D-A26P-10	62514058	94834101	40700646	54	37096											
LGI1	9211	hgsc.bcm.edu	37	10	95549895	95549895	+	Silent	SNP	T	T	C			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr10:95549895T>C	ENST00000371418.4	+	5	731	c.471T>C	c.(469-471)gaT>gaC	p.D157D	LGI1_ENST00000371413.3_Silent_p.D157D|LGI1_ENST00000542308.1_Silent_p.D109D	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	157					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)				TCCCAAAAGATATTTTCAAAG	0.328																																																0													54	57	56					10																	95549895		2203	4299	6502	SO:0001819	synonymous_variant	9211			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.471T>C	chr10.hg19:g.95549895T>C			A8K0Z1|B4E1S0|Q5W001|Q5W002|Q8NI23|Q96LF5	Silent	SNP	ENST00000371418.4	hg19	CCDS7431.1																																																																																				0.328	LGI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049445.1	NM_005097		C	95549895	T	C	95549895	2	2	674	1	0	0	0	0	0	0	0	1	8753	1403	49	3		3	LGI1	10	95549895	Silent	SNP	T	TCGA-HE-A5NI-01A-11D-A26P-10	715794	95549895	39984852	55	37097											
SEMA4G	57715	hgsc.bcm.edu	37	10	102738660	102738660	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr10:102738660G>A	ENST00000370250.4	+	7	1071	c.698G>A	c.(697-699)gGt>gAt	p.G233D	MRPL43_ENST00000370241.3_3'UTR|SEMA4G_ENST00000519756.1_Intron|RP11-108L7.4_ENST00000447344.1_RNA|SEMA4G_ENST00000517724.1_Missense_Mutation_p.G233D|MRPL43_ENST00000318325.2_3'UTR|SEMA4G_ENST00000210633.3_Missense_Mutation_p.G233D	NM_017893.3	NP_060363.2	Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	233	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		AGTGCAGTGGGTGATGATGAC	0.587																																																0													84	65	71					10																	102738660		2203	4300	6503	SO:0001583	missense	57715			AB046839	CCDS7501.1, CCDS55724.1	10q24.31	2013-01-11			ENSG00000095539	ENSG00000095539		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10735	protein-coding gene	gene with protein product							Standard	NM_017893		Approved	FLJ20590, KIAA1619	uc001krw.2	Q9NTN9	OTTHUMG00000018922	ENST00000370250.4:c.698G>A	chr10.hg19:g.102738660G>A	ENSP00000359270:p.Gly233Asp		A1A5C6|A6NJY8|Q58EY1|Q9HCF3	Missense_Mutation	SNP	ENST00000370250.4	hg19		.	.	.	.	.	.	.	.	.	.	G	23.0	4.363918	0.82353	.	.	ENSG00000095539	ENST00000519649;ENST00000457585;ENST00000370250;ENST00000517724;ENST00000210633	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	5.74	4.84	0.62591	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.050938	0.85682	D	0.000000	T	0.52805	0.1757	M	0.68952	2.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.984	D;D;P	0.97110	1.0;1.0;0.907	T	0.53049	-0.8493	10	0.45353	T	0.12	.	13.9543	0.64137	0.0731:0.0:0.9269:0.0	.	233;233;233	Q9NTN9;A1A5C6;Q9NTN9-2	SEM4G_HUMAN;.;.	D	233	ENSP00000428896:G233D;ENSP00000359270:G233D;ENSP00000430175:G233D;ENSP00000210633:G233D	ENSP00000210633:G233D	G	+	2	0	SEMA4G	102728650	1.000000	0.71417	0.959000	0.39883	0.876000	0.50452	7.636000	0.83301	1.433000	0.47394	0.484000	0.47621	GGT		0.587	SEMA4G-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049920.2			A	102738660	G	A	102738660	3	1	674	1	0	0	0	0	1	0	0	0	14042	1261	44	2	724	2	SEMA4G	10	102738660	Missense_Mutation	SNP	G	TCGA-HE-A5NI-01A-11D-A26P-10	7188765	102738660	32796087	56	37098											
C2CD3	26005	hgsc.bcm.edu	37	11	73748552	73748561	+	Frame_Shift_Del	DEL	AGGTTACTGG	AGGTTACTGG	-	rs146977583		TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	AGGTTACTGG	AGGTTACTGG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr11:73748552_73748561delAGGTTACTGG	ENST00000334126.7	-	30	6069_6078	c.5843_5852delCCAGTAACCT	c.(5842-5853)tccagtaacctgfs	p.SSNL1948fs	C2CD3_ENST00000313663.7_Frame_Shift_Del_p.SSNL1948fs			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1948					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)					TTGCAACACCAGGTTACTGGATTTCTCCAG	0.49																																																0																																										SO:0001589	frameshift_variant	26005			BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.5843_5852delCCAGTAACCT	chr11.hg19:g.73748552_73748561delAGGTTACTGG	ENSP00000334379:p.Ser1948fs		C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Frame_Shift_Del	DEL	ENST00000334126.7	hg19																																																																																					0.49	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		-	73748561	AGGTTACTGG	-	73748552	7	5	674	1	0	1	0	1	0	0	0	0	2156	188	7	0	47	0	C2CD3	11	73748552	Frame_Shift_Del	DEL	AGGTTACTGG	TCGA-HE-A5NI-01A-11D-A26P-10		73748552	61257964	57	37099											
NAALAD2	10003	hgsc.bcm.edu	37	11	89896525	89896525	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr11:89896525G>A	ENST00000534061.1	+	10	1353	c.1123G>A	c.(1123-1125)Gct>Act	p.A375T	NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000321955.4_Missense_Mutation_p.A342T|NAALAD2_ENST00000525171.1_Missense_Mutation_p.A282T	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	375	NAALADase.				neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GGTATTTGGAGCTATTGACCC	0.403																																																0													122	129	126					11																	89896525		2201	4299	6500	SO:0001583	missense	10003			AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"glutamate carboxypeptidase III"	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.1123G>A	chr11.hg19:g.89896525G>A	ENSP00000432481:p.Ala375Thr		B3KQR4|Q4KKV4|Q4VAM9	Missense_Mutation	SNP	ENST00000534061.1	hg19	CCDS8288.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.688939	0.68271	.	.	ENSG00000077616	ENST00000534061;ENST00000321955;ENST00000525171	T;T;T	0.65364	-0.15;-0.15;-0.15	5.51	4.61	0.57282	Peptidase M28 (1);	0.502085	0.19690	N	0.108285	T	0.69975	0.3171	M	0.83012	2.62	0.80722	D	1	P;B	0.45283	0.855;0.001	P;B	0.45753	0.492;0.004	T	0.73726	-0.3892	9	.	.	.	-1.5086	14.2116	0.65769	0.0725:0.0:0.9275:0.0	.	375;282	Q9Y3Q0;E9PKX5	NALD2_HUMAN;.	T	375;342;282	ENSP00000432481:A375T;ENSP00000320083:A342T;ENSP00000435249:A282T	.	A	+	1	0	NAALAD2	89536173	1.000000	0.71417	0.972000	0.41901	0.993000	0.82548	7.040000	0.76551	1.467000	0.48044	-0.218000	0.12543	GCT		0.403	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389424.2	NM_005467		A	89896525	G	A	89896525	3	1	674	1	0	0	0	0	1	0	0	0	10130	971	34	2	1161	2	NAALAD2	11	89896525	Missense_Mutation	SNP	G	TCGA-HE-A5NI-01A-11D-A26P-10	16147973	89896525	45109991	58	37100											
GPRC5D	55507	hgsc.bcm.edu	37	12	13102558	13102558	+	Missense_Mutation	SNP	A	A	T			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr12:13102558A>T	ENST00000228887.1	-	1	760	c.761T>A	c.(760-762)cTg>cAg	p.L254Q	RP11-392P7.6_ENST00000394742.3_RNA|RP11-392P7.6_ENST00000545914.1_RNA|RP11-392P7.6_ENST00000543515.2_RNA|RP11-392P7.6_ENST00000538231.1_RNA|RP11-392P7.6_ENST00000542078.1_RNA|RP11-392P7.6_ENST00000536029.1_RNA|GPRC5D_ENST00000396333.3_Missense_Mutation_p.L254Q|RP11-392P7.6_ENST00000540198.1_RNA	NM_018654.1	NP_061124.1	Q9NZD1	GPC5D_HUMAN	G protein-coupled receptor, class C, group 5, member D	254						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)		GTACAGCAGCAGGAAAACCCA	0.577																																																0													144	132	136					12																	13102558		2203	4300	6503	SO:0001583	missense	55507			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.761T>A	chr12.hg19:g.13102558A>T	ENSP00000228887:p.Leu254Gln		Q3KNV3|Q7Z5J9|Q8TDS6	Missense_Mutation	SNP	ENST00000228887.1	hg19	CCDS8658.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.684961	0.88639	.	.	ENSG00000111291	ENST00000228887;ENST00000396333	D;D	0.94793	-3.52;-3.52	6.03	6.03	0.97812	GPCR, family 3, C-terminal (1);	0.000000	0.56097	D	0.000037	D	0.97269	0.9107	M	0.80183	2.485	0.51767	D	0.999936	D	0.89917	1.0	D	0.97110	1.0	D	0.97842	1.0269	10	0.87932	D	0	.	16.5655	0.84588	1.0:0.0:0.0:0.0	.	254	Q9NZD1	GPC5D_HUMAN	Q	254	ENSP00000228887:L254Q;ENSP00000379624:L254Q	ENSP00000228887:L254Q	L	-	2	0	GPRC5D	12993825	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.300000	0.96151	2.302000	0.77476	0.533000	0.62120	CTG		0.577	GPRC5D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400687.1			T	13102558	A	T	13102558	3	4	674	1	0	0	0	0	1	0	0	0	6729	188	7	5	286	5	GPRC5D	12	13102558	Missense_Mutation	SNP	A	TCGA-HE-A5NI-01A-11D-A26P-10		13102558	120749337	59	37101											
PDZRN4	29951	hgsc.bcm.edu	37	12	41966603	41966603	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr12:41966603delA	ENST00000402685.2	+	10	2030	c.2022delA	c.(2020-2022)agafs	p.R674fs	PDZRN4_ENST00000539469.2_Frame_Shift_Del_p.R416fs|PDZRN4_ENST00000298919.7_Frame_Shift_Del_p.R414fs	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	674							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				AAGAACTGAGAAACATTGAGC	0.458																																																0													112	100	104					12																	41966603		2203	4300	6503	SO:0001589	frameshift_variant	29951			AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"RING-type (C3HC4) zinc fingers"	30552	protein-coding gene	gene with protein product	"similar to semaF cytoplasmic domain associated protein 3"	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.2022delA	chr12.hg19:g.41966603delA	ENSP00000384197:p.Arg674fs		Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Frame_Shift_Del	DEL	ENST00000402685.2	hg19	CCDS53777.1																																																																																				0.458	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		-	41966603	A	-	41966603	7	5	674	1	0	1	0	1	0	0	0	0	11712	243	9	0	2133	0	PDZRN4	12	41966603	Frame_Shift_Del	DEL	A	TCGA-HE-A5NI-01A-11D-A26P-10	28864045	41966603	91885292	60	37102											
GALNT6	11226	hgsc.bcm.edu	37	12	51751976	51751982	+	Frame_Shift_Del	DEL	ACCAGGA	ACCAGGA	-			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	ACCAGGA	ACCAGGA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr12:51751976_51751982delACCAGGA	ENST00000543196.2	-	8	1637_1643	c.1432_1438delTCCTGGT	c.(1432-1440)tcctggtacfs	p.SWY478fs	GALNT6_ENST00000356317.3_Frame_Shift_Del_p.SWY478fs			Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	478					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						TTGTGCAGGTACCAGGAAAAGTTGTGA	0.517																																																0																																										SO:0001589	frameshift_variant	11226			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.1432_1438delTCCTGGT	chr12.hg19:g.51751976_51751982delACCAGGA	ENSP00000444171:p.Ser478fs		Q8IYH4|Q9H6G2|Q9UIV5	Frame_Shift_Del	DEL	ENST00000543196.2	hg19	CCDS8813.1																																																																																				0.517	GALNT6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469735.1	NM_007210		-	51751982	ACCAGGA	-	51751976	7	5	674	1	0	1	0	1	0	0	0	0	6219	391	14	0	446	0	GALNT6	12	51751976	Frame_Shift_Del	DEL	ACCAGGA	TCGA-HE-A5NI-01A-11D-A26P-10	9785373	51751976	82099919	61	37103											
KRT2	3849	hgsc.bcm.edu	37	12	53045635	53045636	+	In_Frame_Ins	INS	-	-	TCCAAAGCCGCTGCCGCC			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr12:53045635_53045636insTCCAAAGCCGCTGCCGCC	ENST00000309680.3	-	1	312_313	c.291_292insGGCGGCAGCGGCTTTGGA	c.(289-294)ggaggc>ggaGGCGGCAGCGGCTTTGGAggc	p.97_98GG>GGGSGFGG		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	97	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)		ctgctgccgcctccaaaaccac	0.624																																																0																																										SO:0001652	inframe_insertion	3849				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.291_292insGGCGGCAGCGGCTTTGGA	chr12.hg19:g.53045635_53045636insTCCAAAGCCGCTGCCGCC	ENSP00000310861:p.Gly97_Gly98insGlyGlySerGlyPheGly		Q4VAQ2	In_Frame_Ins	INS	ENST00000309680.3	hg19	CCDS8835.1																																																																																				0.624	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	NM_000423		TCCAAAGCCGCTGCCGCC	53045636	-	TCCAAAGCCGCTGCCGCC	53045635	7	5	674	1	0	1	1	0	0	0	0	0	8459	681	24	0	1663	0	KRT2	12	53045635	In_Frame_Ins	INS	-	TCGA-HE-A5NI-01A-11D-A26P-10	1293659	53045635	80806260	62	37104											
SP7	121340	hgsc.bcm.edu	37	12	53722359	53722359	+	Silent	SNP	C	C	T			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr12:53722359C>T	ENST00000536324.2	-	3	1150	c.867G>A	c.(865-867)cgG>cgA	p.R289R	SP7_ENST00000303846.3_Silent_p.R289R|SP7_ENST00000537210.2_Silent_p.R271R	NM_001173467.1	NP_001166938.1	Q8TDD2	SP7_HUMAN	Sp7 transcription factor	289					hematopoietic stem cell differentiation (GO:0060218)|osteoblast differentiation (GO:0001649)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						TGGGCTTCTTCCGCAGCCCAG	0.657																																																0													17	22	20					12																	53722359		2187	4292	6479	SO:0001819	synonymous_variant	121340			AF477981	CCDS44897.1, CCDS73475.1	12q13.13	2013-01-08				ENSG00000170374		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	17321	protein-coding gene	gene with protein product		606633				11792318	Standard	NM_152860		Approved	osterix, OSX	uc001sct.3	Q8TDD2		ENST00000536324.2:c.867G>A	chr12.hg19:g.53722359C>T			B3KY26|Q3MJ72|Q7Z718	Silent	SNP	ENST00000536324.2	hg19	CCDS44897.1																																																																																				0.657	SP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406917.1			T	53722359	C	T	53722359	2	4	674	1	0	0	0	0	0	0	0	1	14975	842	30	2		2	SP7	12	53722359	Silent	SNP	C	TCGA-HE-A5NI-01A-11D-A26P-10	676724	53722359	80129536	63	37105											
DNAJC14	85406	hgsc.bcm.edu	37	12	56216194	56216194	+	Missense_Mutation	SNP	A	A	G			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr12:56216194A>G	ENST00000357606.3	-	7	2150	c.1861T>C	c.(1861-1863)Ttt>Ctt	p.F621L	RP11-762I7.5_ENST00000546837.1_Missense_Mutation_p.I250T|RP11-762I7.5_ENST00000552719.1_5'UTR|DNAJC14_ENST00000317269.3_Missense_Mutation_p.F621L|DNAJC14_ENST00000317287.5_Missense_Mutation_p.F621L			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	621					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						CGAGAACCAAATGAGATGTGA	0.463											OREG0021910	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													107	112	110					12																	56216194		2203	4300	6503	SO:0001583	missense	85406			AF141342	CCDS8894.1	12q12	2011-09-02				ENSG00000135392		"Heat shock proteins / DNAJ (HSP40)"	24581	protein-coding gene	gene with protein product		606092				11331877, 11984006	Standard	NM_032364		Approved	DNAJ, DRIP78, HDJ3, LIP6, FLJ32792	uc001shu.2	Q6Y2X3		ENST00000357606.3:c.1861T>C	chr12.hg19:g.56216194A>G	ENSP00000350223:p.Phe621Leu	1013	A5YM67|Q17RY2|Q66K17|Q96N59|Q96T63	Missense_Mutation	SNP	ENST00000357606.3	hg19	CCDS8894.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.5|23.5	4.424150|4.424150	0.83667|0.83667	.|.	.|.	ENSG00000135392|ENSG00000257390	ENST00000357606;ENST00000317269;ENST00000537962;ENST00000317287;ENST00000540330|ENST00000546837	T;T;T|.	0.33216|.	1.42;1.42;1.42|.	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.53481|0.53481	0.1799|0.1799	L|L	0.28014|0.28014	0.82|0.82	0.58432|0.58432	D|D	0.999997|0.999997	D;D|.	0.71674|.	0.998;0.998|.	D;D|.	0.72625|.	0.978;0.978|.	T|T	0.50285|0.50285	-0.8846|-0.8846	10|5	0.29301|.	T|.	0.29|.	-12.4258|-12.4258	14.2815|14.2815	0.66216|0.66216	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	621;621|.	Q6Y2X3;A8K5A7|.	DJC14_HUMAN;.|.	L|T	621;621;331;621;117|250	ENSP00000350223:F621L;ENSP00000316240:F621L;ENSP00000317500:F621L|.	ENSP00000316240:F621L|.	F|I	-|-	1|2	0|0	DNAJC14|RP11-762I7.5	54502461|54502461	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	8.512000|8.512000	0.90538|0.90538	2.324000|2.324000	0.78689|0.78689	0.533000|0.533000	0.62120|0.62120	TTT|ATT		0.463	DNAJC14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409095.1	NM_032364		G	56216194	A	G	56216194	3	3	674	1	0	0	0	0	1	0	0	0	4635	101	4	3	255	3	DNAJC14	12	56216194	Missense_Mutation	SNP	A	TCGA-HE-A5NI-01A-11D-A26P-10	2493835	56216194	77635701	64	37106											
DPY19L2	283417	hgsc.bcm.edu	37	12	63991615	63991615	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr12:63991615G>A	ENST00000324472.4	-	14	1618	c.1435C>T	c.(1435-1437)Ccc>Tcc	p.P479S		NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	479					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		TCAAATTCGGGAGCACAGGTA	0.323																																																0													53	58	56					12																	63991615		2202	4287	6489	SO:0001583	missense	283417				CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"spermatogenesis associated 34"	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.1435C>T	chr12.hg19:g.63991615G>A	ENSP00000315988:p.Pro479Ser		A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Missense_Mutation	SNP	ENST00000324472.4	hg19	CCDS31851.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.769090	0.49680	.	.	ENSG00000177990	ENST00000324472	T	0.54071	0.59	3.15	2.22	0.28083	.	0.062767	0.64402	U	0.000008	T	0.51991	0.1707	M	0.71581	2.175	0.58432	D	0.999999	B	0.25272	0.122	B	0.36186	0.219	T	0.44050	-0.9353	9	.	.	.	.	8.3442	0.32263	0.0:0.2427:0.7573:0.0	.	479	Q6NUT2	D19L2_HUMAN	S	479	ENSP00000315988:P479S	.	P	-	1	0	DPY19L2	62277882	1.000000	0.71417	0.698000	0.30274	0.953000	0.61014	2.632000	0.46511	0.619000	0.30197	0.586000	0.80456	CCC		0.323	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812		A	63991615	G	A	63991615	3	1	674	1	0	0	0	0	1	0	0	0	4743	1174	41	2	877	2	DPY19L2	12	63991615	Missense_Mutation	SNP	G	TCGA-HE-A5NI-01A-11D-A26P-10	7775421	63991615	69860280	65	37107											
TMPO	7112	hgsc.bcm.edu	37	12	98925573	98925573	+	Missense_Mutation	SNP	G	G	C			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr12:98925573G>C	ENST00000556029.1	+	3	878	c.522G>C	c.(520-522)caG>caC	p.Q174H	TMPO_ENST00000266732.4_Missense_Mutation_p.Q174H|TMPO_ENST00000393053.2_Missense_Mutation_p.Q174H|TMPO_ENST00000343315.5_Missense_Mutation_p.Q174H|TMPO_ENST00000261210.5_Missense_Mutation_p.Q174H	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin	174	NAKAP95-binding N.|Nucleoplasmic. {ECO:0000255}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)|lamin binding (GO:0005521)			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						ATACAAGGCAGAATGGAAGTA	0.323																																																0													70	70	70					12																	98925573		2203	4300	6503	SO:0001583	missense	7112				CCDS9064.1, CCDS31879.1, CCDS31880.1	12q22	2014-09-17			ENSG00000120802	ENSG00000120802			11875	protein-coding gene	gene with protein product	"LEM domain containing 4"	188380				7517549	Standard	NM_003276		Approved	TP, LAP2, LEMD4	uc001tfh.2	P42166	OTTHUMG00000170210	ENST00000556029.1:c.522G>C	chr12.hg19:g.98925573G>C	ENSP00000450627:p.Gln174His		A2T926|Q14861	Missense_Mutation	SNP	ENST00000556029.1	hg19	CCDS31879.1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.562332	0.65538	.	.	ENSG00000120802	ENST00000556029;ENST00000343315;ENST00000266732;ENST00000393053;ENST00000261210;ENST00000556678	T;T;T;T;T;T	0.74421	0.18;0.22;1.55;-0.23;-0.84;-0.8	5.4	2.51	0.30379	.	0.053524	0.85682	D	0.000000	T	0.78046	0.4222	L	0.46157	1.445	0.49687	D	0.999819	D;P;D;D	0.71674	0.997;0.604;0.998;0.997	D;B;D;D	0.79784	0.991;0.204;0.993;0.99	T	0.75611	-0.3258	10	0.59425	D	0.04	.	6.5002	0.22164	0.2145:0.1293:0.6561:0.0	.	207;174;174;174	Q59G12;P42167;A2T926;P42166	.;LAP2B_HUMAN;.;LAP2A_HUMAN	H	174;174;174;174;174;81	ENSP00000450627:Q174H;ENSP00000340251:Q174H;ENSP00000266732:Q174H;ENSP00000376773:Q174H;ENSP00000261210:Q174H;ENSP00000451552:Q81H	ENSP00000261210:Q174H	Q	+	3	2	TMPO	97449704	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.511000	0.45476	0.634000	0.30469	0.655000	0.94253	CAG		0.323	TMPO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407973.2	NM_003276		C	98925573	G	C	98925573	3	2	674	1	0	0	0	0	1	0	0	0	16242	933	33	4	532	4	TMPO	12	98925573	Missense_Mutation	SNP	G	TCGA-HE-A5NI-01A-11D-A26P-10	34933958	98925573	34926322	66	37108											
RNF34	80196	hgsc.bcm.edu	37	12	121855373	121855374	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	AG	AG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr12:121855373_121855374delAG	ENST00000392464.2	+	3	361_362	c.292_293delAG	c.(292-294)agafs	p.R98fs	RNF34_ENST00000392465.3_Frame_Shift_Del_p.R99fs|RNF34_ENST00000555076.1_Intron|RNF34_ENST00000361234.5_Frame_Shift_Del_p.R98fs					ring finger protein 34, E3 ubiquitin protein ligase											breast(1)|large_intestine(1)	2	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233)		AAATCTCCGTAGATGTTCTACT	0.416																																																0																																										SO:0001589	frameshift_variant	80196			AF306709, AB084914	CCDS9221.1, CCDS31915.1, CCDS73538.1	12q24.31	2012-02-23	2012-02-23			ENSG00000170633		"RING-type (C3HC4) zinc fingers"	17297	protein-coding gene	gene with protein product		608299	"ring finger protein 34"			12118383	Standard	NM_025126		Approved	RIFF, FLJ21786, RIF	uc001ual.2	Q969K3		ENST00000392464.2:c.292_293delAG	chr12.hg19:g.121855373_121855374delAG	ENSP00000376257:p.Arg98fs			Frame_Shift_Del	DEL	ENST00000392464.2	hg19																																																																																					0.416	RNF34-005	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000413892.1	NM_194271		-	121855374	AG	-	121855373	7	5	674	1	0	1	0	1	0	0	0	0	13495	412	15	0	315	0	RNF34	12	121855373	Frame_Shift_Del	DEL	AG	TCGA-HE-A5NI-01A-11D-A26P-10	22929800	121855373	11996522	67	37109											
SACS	26278	hgsc.bcm.edu	37	13	23906370	23906371	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr13:23906370_23906371insA	ENST00000382292.3	-	9	11917_11918	c.11644_11645insT	c.(11644-11646)tctfs	p.S3882fs	SACS_ENST00000382298.3_Frame_Shift_Ins_p.S3882fs|SACS_ENST00000402364.1_Frame_Shift_Ins_p.S3132fs			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	3882					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)		GAACAGACCAGAAACTACTCTC	0.416																																																0																																										SO:0001589	frameshift_variant	26278			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.11645dupT	chr13.hg19:g.23906373_23906373dupA	ENSP00000371729:p.Ser3882fs		O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Frame_Shift_Ins	INS	ENST00000382292.3	hg19	CCDS9300.2																																																																																				0.416	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		A	23906371	-	A	23906370	7	5	674	1	0	1	1	0	0	0	0	0	13810	942	33	0	2098	0	SACS	13	23906370	Frame_Shift_Ins	INS	-	TCGA-HE-A5NI-01A-11D-A26P-10		23906370	91263508	68	37110											
IPO4	79711	hgsc.bcm.edu	37	14	24654679	24654679	+	Missense_Mutation	SNP	A	A	T			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr14:24654679A>T	ENST00000354464.6	-	13	1440	c.1264T>A	c.(1264-1266)Tca>Aca	p.S422T	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	422					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)		AGGTTTTCTGAGAACTGGCCC	0.562																																																0													85	91	89					14																	24654679		2042	4182	6224	SO:0001583	missense	79711			AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"Importins"	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801	ENST00000354464.6:c.1264T>A	chr14.hg19:g.24654679A>T	ENSP00000346453:p.Ser422Thr		B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Missense_Mutation	SNP	ENST00000354464.6	hg19	CCDS9616.1	.	.	.	.	.	.	.	.	.	.	A	29.5	5.007813	0.93287	.	.	ENSG00000196497	ENST00000354464;ENST00000399536	T	0.05513	3.43	5.44	5.44	0.79542	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.21962	0.0529	M	0.69185	2.1	0.80722	D	1	D	0.65815	0.995	D	0.70016	0.967	T	0.00138	-1.2003	10	0.72032	D	0.01	-9.0334	13.1234	0.59340	1.0:0.0:0.0:0.0	.	422	Q8TEX9	IPO4_HUMAN	T	422;98	ENSP00000346453:S422T	ENSP00000346453:S422T	S	-	1	0	IPO4	23724519	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.283000	0.65621	2.288000	0.76882	0.533000	0.62120	TCA		0.562	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071931.4	NM_024658		T	24654679	A	T	24654679	3	4	674	1	0	0	0	0	1	0	0	0	7797	304	11	5	2053	5	IPO4	14	24654679	Missense_Mutation	SNP	A	TCGA-HE-A5NI-01A-11D-A26P-10		24654679	82694861	69	37111											
BRMS1L	84312	hgsc.bcm.edu	37	14	36300676	36300676	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr14:36300676delT	ENST00000216807.7	+	2	402	c.203delT	c.(202-204)cttfs	p.L68fs	BRMS1L_ENST00000543183.1_Frame_Shift_Del_p.L20fs	NM_032352.3	NP_115728.2	Q5PSV4	BRM1L_HUMAN	breast cancer metastasis-suppressor 1-like	68					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)		ATGTCCAATCTTGAAAAACAG	0.333																																																0													116	117	116					14																	36300676		2203	4300	6503	SO:0001589	frameshift_variant	84312			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.203delT	chr14.hg19:g.36300676delT	ENSP00000216807:p.Leu68fs		A6NFW5|A6NH45|B2RD65|Q9BRI4	Frame_Shift_Del	DEL	ENST00000216807.7	hg19	CCDS32066.1																																																																																				0.333	BRMS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409601.2	NM_032352		-	36300676	T	-	36300676	7	5	674	1	0	1	0	1	0	0	0	0	1519	1609	56	0	209	0	BRMS1L	14	36300676	Frame_Shift_Del	DEL	T	TCGA-HE-A5NI-01A-11D-A26P-10	11645997	36300676	71048864	70	37112											
NIN	51199	hgsc.bcm.edu	37	14	51223359	51223359	+	Missense_Mutation	SNP	C	C	G			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr14:51223359C>G	ENST00000382041.3	-	18	4579	c.4389G>C	c.(4387-4389)gaG>gaC	p.E1463D	NIN_ENST00000389868.3_Intron|NIN_ENST00000324330.9_Missense_Mutation_p.E1463D|NIN_ENST00000245441.5_Missense_Mutation_p.E1463D|NIN_ENST00000382043.4_Intron|NIN_ENST00000530997.2_Missense_Mutation_p.E1463D|NIN_ENST00000453196.1_Missense_Mutation_p.E1463D	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1463					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					tcctagtcagctcctgtaact	0.418			T	PDGFRB	MPD																																		Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	0													113	88	96					14																	51223359		2194	4286	6480	SO:0001583	missense	51199			AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"EF-hand domain containing"	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.4389G>C	chr14.hg19:g.51223359C>G	ENSP00000371472:p.Glu1463Asp		A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	ENST00000382041.3	hg19	CCDS32079.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.37|16.37	3.103971|3.103971	0.56291|0.56291	.|.	.|.	ENSG00000100503|ENSG00000100503	ENST00000530997;ENST00000389869;ENST00000530853|ENST00000245441;ENST00000311149;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196	.|T;T;T;T	.|0.10192	.|3.17;2.91;2.9;2.91	5.59|5.59	4.7|4.7	0.59300|0.59300	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.20170|0.20170	0.0485|0.0485	M|M	0.62723|0.62723	1.935|1.935	0.31457|0.31457	N|N	0.670061|0.670061	.|P;D;P;P	.|0.59767	.|0.873;0.986;0.852;0.8	.|B;P;B;B	.|0.53224	.|0.291;0.721;0.275;0.416	T|T	0.11842|0.11842	-1.0571|-1.0571	5|10	.|0.48119	.|T	.|0.1	-1.0688|-1.0688	10.3959|10.3959	0.44201|0.44201	0.0:0.9099:0.0:0.0901|0.0:0.9099:0.0:0.0901	.|.	.|1469;1463;1463;1463	.|Q8N4C6-5;C9J066;Q8N4C6;Q8N4C6-7	.|.;.;NIN_HUMAN;.	P|D	954|1463;1446;1469;1463;1463;1463	.|ENSP00000245441:E1463D;ENSP00000371472:E1463D;ENSP00000324210:E1463D;ENSP00000412391:E1463D	.|ENSP00000245441:E1463D	A|E	-|-	1|3	0|2	NIN|NIN	50293109|50293109	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	0.415000|0.415000	0.21181|0.21181	1.366000|1.366000	0.46076|0.46076	0.655000|0.655000	0.94253|0.94253	GCT|GAG		0.418	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		G	51223359	C	G	51223359	3	3	674	1	0	0	0	0	1	0	0	0	10419	796	28	4	2216	4	NIN	14	51223359	Missense_Mutation	SNP	C	TCGA-HE-A5NI-01A-11D-A26P-10	14922683	51223359	56126181	71	37113											
CHGA	1113	hgsc.bcm.edu	37	14	93397675	93397675	+	Missense_Mutation	SNP	A	A	G			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr14:93397675A>G	ENST00000216492.5	+	6	716	c.436A>G	c.(436-438)Aca>Gca	p.T146A	CHGA_ENST00000334654.4_Intron|CHGA_ENST00000553866.1_3'UTR	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	146					regulation of blood pressure (GO:0008217)	extracellular region (GO:0005576)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|secretory granule (GO:0030141)				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		TGGTGAAGCCACAGACGGAGC	0.597																																					Colon(31;154 822 45066 49155)|NSCLC(28;804 1157 13734 25204)											0													33	40	37					14																	93397675		2203	4300	6503	SO:0001583	missense	1113				CCDS9906.1	14q32	2012-10-02			ENSG00000100604	ENSG00000100604			1929	protein-coding gene	gene with protein product	"vasostatin", "pancreastatin", "parastatin"	118910				3403545	Standard	NM_001275		Approved		uc001ybc.4	P10645		ENST00000216492.5:c.436A>G	chr14.hg19:g.93397675A>G	ENSP00000216492:p.Thr146Ala		B2R9E9|Q53FA8|Q6NR84|Q96E84|Q96GL7|Q9BQB5	Missense_Mutation	SNP	ENST00000216492.5	hg19	CCDS9906.1	.	.	.	.	.	.	.	.	.	.	A	5.459	0.269804	0.10349	.	.	ENSG00000100604	ENST00000216492	T	0.01647	4.71	4.7	-9.4	0.00616	.	2.536240	0.01191	N	0.007328	T	0.01061	0.0035	N	0.16656	0.425	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45862	-0.9232	10	0.11182	T	0.66	6.9295	4.398	0.11372	0.216:0.2247:0.4493:0.11	.	146	P10645	CMGA_HUMAN	A	146	ENSP00000216492:T146A	ENSP00000216492:T146A	T	+	1	0	CHGA	92467428	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.711000	0.05019	-2.936000	0.00299	-0.441000	0.05720	ACA		0.597	CHGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412411.1	NM_001275		G	93397675	A	G	93397675	3	3	674	1	0	0	0	0	1	0	0	0	3340	159	6	3	458	3	CHGA	14	93397675	Missense_Mutation	SNP	A	TCGA-HE-A5NI-01A-11D-A26P-10	42174316	93397675	13951865	72	37114											
GCNT3	9245	hgsc.bcm.edu	37	15	59911000	59911000	+	Missense_Mutation	SNP	T	T	C			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr15:59911000T>C	ENST00000396065.1	+	3	1011	c.563T>C	c.(562-564)aTa>aCa	p.I188T	GCNT3_ENST00000560585.1_Missense_Mutation_p.I188T	NM_004751.2	NP_004742.1	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin type	188					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						AATGTCTTCATAGCCAGTAAG	0.498																																																0													117	110	112					15																	59911000		2190	4290	6480	SO:0001583	missense	9245			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.563T>C	chr15.hg19:g.59911000T>C	ENSP00000379377:p.Ile188Thr			Missense_Mutation	SNP	ENST00000396065.1	hg19	CCDS10172.1	.	.	.	.	.	.	.	.	.	.	T	17.13	3.311833	0.60414	.	.	ENSG00000140297	ENST00000396065	T	0.11712	2.75	6.13	6.13	0.99165	.	0.536118	0.20374	N	0.093586	T	0.20210	0.0486	M	0.80183	2.485	0.45035	D	0.998058	P	0.36354	0.549	B	0.35182	0.197	T	0.01249	-1.1406	10	0.87932	D	0	.	16.8061	0.85666	0.0:0.0:0.0:1.0	.	188	O95395	GCNT3_HUMAN	T	188	ENSP00000379377:I188T	ENSP00000379377:I188T	I	+	2	0	GCNT3	57698292	1.000000	0.71417	0.948000	0.38648	0.868000	0.49771	7.955000	0.87856	2.367000	0.80283	0.529000	0.55759	ATA		0.498	GCNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256068.1	NM_004751		C	59911000	T	C	59911000	3	2	674	1	0	0	0	0	1	0	0	0	6304	1406	49	3	565	3	GCNT3	15	59911000	Missense_Mutation	SNP	T	TCGA-HE-A5NI-01A-11D-A26P-10		59911000	42620392	73	37115											
DENND4A	10260	hgsc.bcm.edu	37	15	65956990	65956991	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr15:65956990_65956991insT	ENST00000431932.2	-	30	5505_5506	c.5297_5298insA	c.(5296-5298)agtfs	p.S1766fs	DENND4A_ENST00000443035.3_Frame_Shift_Ins_p.S1809fs	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1766					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						TTTTTACCATACTTTTCAACAG	0.337																																																0																																										SO:0001589	frameshift_variant	10260			AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"DENN/MADD domain containing"	24321	protein-coding gene	gene with protein product		600382	"c-myc promoter binding protein"	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.5297_5298insA	chr15.hg19:g.65956990_65956991insT	ENSP00000396830:p.Ser1766fs		E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Frame_Shift_Ins	INS	ENST00000431932.2	hg19	CCDS45285.1																																																																																				0.337	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848		T	65956991	-	T	65956990	7	5	674	1	0	1	1	0	0	0	0	0	4435	388	14	0	305	0	DENND4A	15	65956990	Frame_Shift_Ins	INS	-	TCGA-HE-A5NI-01A-11D-A26P-10	6045990	65956990	36574402	74	37116											
UACA	55075	hgsc.bcm.edu	37	15	70991969	70991969	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr15:70991969G>A	ENST00000322954.6	-	2	294	c.109C>T	c.(109-111)Cga>Tga	p.R37*	UACA_ENST00000560441.1_Nonsense_Mutation_p.R24*|UACA_ENST00000539319.1_Nonsense_Mutation_p.R37*|UACA_ENST00000379983.2_Nonsense_Mutation_p.R24*	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	37					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						TTCATCAATCGGTCATCATAT	0.363																																																0													145	125	132					15																	70991969		2199	4297	6496	SO:0001587	stop_gained	55075			AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"Ankyrin repeat domain containing"	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.109C>T	chr15.hg19:g.70991969G>A	ENSP00000314556:p.Arg37*		G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Nonsense_Mutation	SNP	ENST00000322954.6	hg19	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	G	37	6.366924	0.97511	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000395362;ENST00000539319	.	.	.	5.28	3.23	0.37069	.	0.000000	0.48286	D	0.000192	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.7105	14.3737	0.66860	0.0:0.0:0.6557:0.3443	.	.	.	.	X	37;24;24;37	.	ENSP00000314556:R37X	R	-	1	2	UACA	68779023	1.000000	0.71417	0.999000	0.59377	0.956000	0.61745	4.021000	0.57196	1.312000	0.45043	0.491000	0.48974	CGA		0.363	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2			A	70991969	G	A	70991969	4	1	674	1	0	0	0	0	0	1	0	0	16829	1124	39	1	4213	1	UACA	15	70991969	Nonsense_Mutation	SNP	G	TCGA-HE-A5NI-01A-11D-A26P-10	5034979	70991969	31539423	75	37117											
ST8SIA2	8128	hgsc.bcm.edu	37	15	92973323	92973323	+	Missense_Mutation	SNP	T	T	C			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr15:92973323T>C	ENST00000268164.3	+	2	380	c.143T>C	c.(142-144)tTa>tCa	p.L48S	ST8SIA2_ENST00000539113.1_Intron	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	48					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|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)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	early endosome (GO:0005769)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|recycling endosome (GO:0055037)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			GTGAACAGCTTACATAGCAAA	0.393																																																0													143	133	136					15																	92973323		2198	4298	6496	SO:0001583	missense	8128			U33551	CCDS10372.1	15q26	2013-03-01	2003-01-14	2005-02-07	ENSG00000140557	ENSG00000140557		"Sialyltransferases"	10870	protein-coding gene	gene with protein product		602546	"sialyltransferase 8 (alpha-2, 8-sialytransferase) B"	SIAT8B		7559389	Standard	NM_006011		Approved	STX, ST8SIA-II, HsT19690	uc002bra.3	Q92186	OTTHUMG00000149843	ENST00000268164.3:c.143T>C	chr15.hg19:g.92973323T>C	ENSP00000268164:p.Leu48Ser		Q4VAZ0|Q92470|Q92746	Missense_Mutation	SNP	ENST00000268164.3	hg19	CCDS10372.1	.	.	.	.	.	.	.	.	.	.	T	10.03	1.239532	0.22711	.	.	ENSG00000140557	ENST00000268164;ENST00000555434	T;T	0.27720	1.95;1.65	5.55	5.55	0.83447	.	0.179000	0.35436	N	0.003205	T	0.23054	0.0557	L	0.27053	0.805	0.80722	D	1	B	0.12630	0.006	B	0.09377	0.004	T	0.05053	-1.0909	10	0.20046	T	0.44	0.2846	15.71	0.77620	0.0:0.0:0.0:1.0	.	48	Q92186	SIA8B_HUMAN	S	48	ENSP00000268164:L48S;ENSP00000450851:L48S	ENSP00000268164:L48S	L	+	2	0	ST8SIA2	90774327	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.306000	0.65756	2.105000	0.64084	0.533000	0.62120	TTA		0.393	ST8SIA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313526.1	NM_006011		C	92973323	T	C	92973323	3	2	674	1	0	0	0	0	1	0	0	0	15237	1764	61	3	149	3	ST8SIA2	15	92973323	Missense_Mutation	SNP	T	TCGA-HE-A5NI-01A-11D-A26P-10	21981354	92973323	9558069	76	37118											
SRCAP	10847	hgsc.bcm.edu	37	16	30733555	30733555	+	Missense_Mutation	SNP	G	G	C			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr16:30733555G>C	ENST00000262518.4	+	22	4039	c.3654G>C	c.(3652-3654)ttG>ttC	p.L1218F	SRCAP_ENST00000344771.4_Missense_Mutation_p.L1122F|SRCAP_ENST00000395059.2_Missense_Mutation_p.L1218F	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1218	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)			AGCTGACTTTGACTGGTGCCC	0.587																																																0													113	96	102					16																	30733555		2197	4300	6497	SO:0001583	missense	10847			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.3654G>C	chr16.hg19:g.30733555G>C	ENSP00000262518:p.Leu1218Phe		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	hg19	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	G	14.90	2.673750	0.47781	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.96913	-4.07;-4.17;-3.98	4.68	4.68	0.58851	.	0.000000	0.40064	N	0.001186	D	0.96522	0.8865	L	0.29908	0.895	0.27411	N	0.954569	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.997	D	0.92402	0.5930	10	0.72032	D	0.01	-5.1815	16.5291	0.84353	0.0:0.0:1.0:0.0	.	1122;1218;1218	Q6ZRS2-3;Q6ZRS2-2;Q6ZRS2	.;.;SRCAP_HUMAN	F	1218;1218;1122	ENSP00000262518:L1218F;ENSP00000378499:L1218F;ENSP00000343042:L1122F	ENSP00000262518:L1218F	L	+	3	2	SRCAP	30641056	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	2.423000	0.44705	2.414000	0.81942	0.462000	0.41574	TTG		0.587	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		C	30733555	G	C	30733555	3	2	674	1	0	0	0	0	1	0	0	0	15140	1281	45	4	3732	4	SRCAP	16	30733555	Missense_Mutation	SNP	G	TCGA-HE-A5NI-01A-11D-A26P-10		30733555	59621198	77	37119											
ITGAX	3687	hgsc.bcm.edu	37	16	31371302	31371302	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr16:31371302G>A	ENST00000268296.4	+	7	744	c.623G>A	c.(622-624)cGc>cAc	p.R208H	ITGAX_ENST00000562522.1_Missense_Mutation_p.R208H	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	208	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						GAATTCAGGCGCAGCTCAAAC	0.517																																																0													101	103	102					16																	31371302		2197	4300	6497	SO:0001583	missense	3687			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.623G>A	chr16.hg19:g.31371302G>A	ENSP00000268296:p.Arg208His		Q8IVA6	Missense_Mutation	SNP	ENST00000268296.4	hg19	CCDS10711.1	.	.	.	.	.	.	.	.	.	.	G	11.36	1.616950	0.28801	.	.	ENSG00000140678	ENST00000268296	T	0.78246	-1.16	4.88	-5.48	0.02592	von Willebrand factor, type A (3);	.	.	.	.	T	0.64800	0.2631	L	0.41492	1.28	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.54002	-0.8358	9	0.56958	D	0.05	.	8.8842	0.35394	0.176:0.46:0.364:0.0	.	208	P20702	ITAX_HUMAN	H	208	ENSP00000268296:R208H	ENSP00000268296:R208H	R	+	2	0	ITGAX	31278803	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.940000	0.01543	-0.882000	0.03987	-0.670000	0.03821	CGC		0.517	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		A	31371302	G	A	31371302	3	1	674	1	0	0	0	0	1	0	0	0	7891	1087	38	1	649	1	ITGAX	16	31371302	Missense_Mutation	SNP	G	TCGA-HE-A5NI-01A-11D-A26P-10	637747	31371302	58983451	78	37120											
ZNF319	57567	hgsc.bcm.edu	37	16	58031774	58031774	+	Silent	SNP	G	G	A			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr16:58031774G>A	ENST00000299237.2	-	2	1018	c.396C>T	c.(394-396)ttC>ttT	p.F132F	USB1_ENST00000561743.1_5'Flank	NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	132					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						CCCCACAGACGAAGGGCTTCT	0.572																																																0													59	57	57					16																	58031774		2198	4300	6498	SO:0001819	synonymous_variant	57567			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.396C>T	chr16.hg19:g.58031774G>A			Q52LH8	Silent	SNP	ENST00000299237.2	hg19	CCDS32462.1																																																																																				0.572	ZNF319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430317.1			A	58031774	G	A	58031774	2	1	674	1	0	0	0	0	0	0	0	1	17842	1049	37	1		1	ZNF319	16	58031774	Silent	SNP	G	TCGA-HE-A5NI-01A-11D-A26P-10	26660472	58031774	32322979	79	37121											
AP1G1	164	hgsc.bcm.edu	37	16	71772895	71772895	+	Missense_Mutation	SNP	T	T	A			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr16:71772895T>A	ENST00000299980.4	-	21	2659	c.2218A>T	c.(2218-2220)Agc>Tgc	p.S740C	AP1G1_ENST00000564155.1_Missense_Mutation_p.S165C|AP1G1_ENST00000433195.2_Missense_Mutation_p.S763C|AP1G1_ENST00000423132.2_Missense_Mutation_p.S743C|AP1G1_ENST00000393512.3_Missense_Mutation_p.S743C|AP1G1_ENST00000569748.1_Missense_Mutation_p.S740C	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	740	GAE. {ECO:0000255|PROSITE- ProRule:PRU00093}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|Golgi to lysosome transport (GO:0090160)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network membrane (GO:0032588)	GTP-dependent protein binding (GO:0030742)|kinesin binding (GO:0019894)|protein transporter activity (GO:0008565)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				AGCTCTGTGCTGTTGGAGGCC	0.418																																																0													208	183	191					16																	71772895		2198	4300	6498	SO:0001583	missense	164			Y12226	CCDS32480.1, CCDS45522.1	16q23	2009-08-03				ENSG00000166747			555	protein-coding gene	gene with protein product	"gamma1-adaptin"	603533		CLAPG1, ADTG		9653655, 9733768	Standard	NM_001128		Approved		uc010cgg.3	O43747		ENST00000299980.4:c.2218A>T	chr16.hg19:g.71772895T>A	ENSP00000299980:p.Ser740Cys		O75709|O75842|Q9UG09|Q9Y3U4	Missense_Mutation	SNP	ENST00000299980.4	hg19	CCDS32480.1	.	.	.	.	.	.	.	.	.	.	T	13.67	2.307011	0.40795	.	.	ENSG00000166747	ENST00000299980;ENST00000393512;ENST00000423132;ENST00000433195	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.29	5.29	0.74685	Coatomer/clathrin adaptor appendage, Ig-like subdomain (1);Clathrin adaptor, gamma-adaptin, appendage (2);Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain (2);	0.135369	0.64402	D	0.000002	T	0.38878	0.1057	L	0.52905	1.665	0.49687	D	0.999819	B;B;B	0.12013	0.005;0.002;0.002	B;B;B	0.19666	0.026;0.017;0.023	T	0.26608	-1.0098	10	0.48119	T	0.1	-8.7323	10.4684	0.44622	0.1451:0.0:0.0:0.8549	.	740;763;743	O43747;B3KXW5;O43747-2	AP1G1_HUMAN;.;.	C	740;743;743;763	ENSP00000299980:S740C;ENSP00000377148:S743C;ENSP00000409153:S743C;ENSP00000403259:S763C	ENSP00000299980:S740C	S	-	1	0	AP1G1	70330396	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	3.020000	0.49643	1.996000	0.58369	0.528000	0.53228	AGC		0.418	AP1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434147.1			A	71772895	T	A	71772895	3	1	674	1	0	0	0	0	1	0	0	0	732	1580	55	5	262	5	AP1G1	16	71772895	Missense_Mutation	SNP	T	TCGA-HE-A5NI-01A-11D-A26P-10	13741121	71772895	18581858	80	37122											
PRPF8	10594	hgsc.bcm.edu	37	17	1585300	1585301	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr17:1585300_1585301insT	ENST00000572621.1	-	4	731_732	c.466_467insA	c.(466-468)agafs	p.R156fs	PRPF8_ENST00000304992.6_Frame_Shift_Ins_p.R156fs			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	156					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)		CCTCCTATCTCTTTTTTCTCGG	0.51																																																0																																										SO:0001589	frameshift_variant	10594			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.467dupA	chr17.hg19:g.1585306_1585306dupT	ENSP00000460348:p.Arg156fs		O14547|O75965	Frame_Shift_Ins	INS	ENST00000572621.1	hg19	CCDS11010.1																																																																																				0.51	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			T	1585301	-	T	1585300	7	5	674	1	0	1	1	0	0	0	0	0	12580	913	32	0	6696	0	PRPF8	17	1585300	Frame_Shift_Ins	INS	-	TCGA-HE-A5NI-01A-11D-A26P-10		1585300	79609910	81	37123											
ACACA	31	hgsc.bcm.edu	37	17	35615281	35615281	+	Silent	SNP	A	A	T			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr17:35615281A>T	ENST00000394406.2	-	13	1594	c.1404T>A	c.(1402-1404)atT>atA	p.I468I	ACACA_ENST00000353139.5_Silent_p.I505I|ACACA_ENST00000335166.5_Silent_p.I390I|ACACA_ENST00000360679.3_Silent_p.I410I	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	468	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)|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)	TATATAGAGGAATCCCCATGG	0.368																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)											0													67	66	66					17																	35615281		2203	4300	6503	SO:0001819	synonymous_variant	31			U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 1"	200350	"acetyl-Coenzyme A carboxylase alpha"	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.1404T>A	chr17.hg19:g.35615281A>T			B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Silent	SNP	ENST00000394406.2	hg19	CCDS11317.1																																																																																				0.368	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		T	35615281	A	T	35615281	2	4	674	1	0	0	0	0	0	0	0	1	106	242	9	5		5	ACACA	17	35615281	Silent	SNP	A	TCGA-HE-A5NI-01A-11D-A26P-10	34029981	35615281	45579929	82	37124											
KRT23	25984	hgsc.bcm.edu	37	17	39092459	39092459	+	Splice_Site	SNP	C	C	G			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr17:39092459C>G	ENST00000209718.3	-	2	821		c.e2+1		AC004231.2_ENST00000418393.1_RNA|KRT23_ENST00000436344.3_Intron|KRT23_ENST00000582283.1_5'Flank	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)							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)				CAGCATCTTACCTGCTCCTGC	0.517																																																0													55	57	56					17																	39092459		2203	4300	6503	SO:0001630	splice_region_variant	25984			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.396+1G>C	chr17.hg19:g.39092459C>G			A8K084|B7Z7J2|I3L3Q6|Q9NUR6	Splice_Site	SNP	ENST00000209718.3	hg19	CCDS11380.1	.	.	.	.	.	.	.	.	.	.	C	13.33	2.205300	0.39003	.	.	ENSG00000108244	ENST00000209718	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8915	0.96931	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KRT23	36345985	1.000000	0.71417	1.000000	0.80357	0.197000	0.23852	7.797000	0.85911	2.707000	0.92482	0.557000	0.71058	.		0.517	KRT23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257223.1		Intron	G	39092459	C	G	39092459	5	3	674	1	0	0	0	0	0	0	1	0	8462	521	18	4	903	4	KRT23	17	39092459	Splice_Site	SNP	C	TCGA-HE-A5NI-01A-11D-A26P-10	3477178	39092459	42102751	83	37125											
PSMD12	5718	hgsc.bcm.edu	37	17	65362549	65362549	+	Silent	SNP	G	G	C			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr17:65362549G>C	ENST00000356126.3	-	1	194	c.87C>G	c.(85-87)ccC>ccG	p.P29P	PSMD12_ENST00000357146.4_Silent_p.P29P|PSMD12_ENST00000581618.1_5'UTR	NM_002816.3	NP_002807.1	O00232	PSD12_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 12	29					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)				breast(1)|large_intestine(4)|lung(6)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)					TCGCACACTCGGGTAGGCGCT	0.706																																																0													40	31	34					17																	65362549		2203	4299	6502	SO:0001819	synonymous_variant	5718			AB003103	CCDS11669.1, CCDS11670.1	17q24.3	2008-05-22			ENSG00000197170	ENSG00000197170		"Proteasome (prosome, macropain) subunits"	9557	protein-coding gene	gene with protein product		604450				9426256	Standard	NM_002816		Approved	p55, Rpn5	uc002jfy.3	O00232	OTTHUMG00000140376	ENST00000356126.3:c.87C>G	chr17.hg19:g.65362549G>C			A6NP15|Q53HA2|Q6P053	Silent	SNP	ENST00000356126.3	hg19	CCDS11669.1																																																																																				0.706	PSMD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277103.1	NM_002816, NM_174871		C	65362549	G	C	65362549	2	2	674	1	0	0	0	0	0	0	0	1	12700	1103	39	4		4	PSMD12	17	65362549	Silent	SNP	G	TCGA-HE-A5NI-01A-11D-A26P-10	26270090	65362549	15832661	84	37126											
TRIM47	91107	hgsc.bcm.edu	37	17	73872839	73872839	+	Missense_Mutation	SNP	G	G	A	rs377764139		TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr17:73872839G>A	ENST00000254816.2	-	2	757	c.731C>T	c.(730-732)gCt>gTt	p.A244V	TRIM47_ENST00000587339.1_Missense_Mutation_p.A6V|RP11-552F3.9_ENST00000586076.1_RNA	NM_033452.2	NP_258411.2	Q96LD4	TRI47_HUMAN	tripartite motif containing 47	244						cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22			Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGCAATGCCAGCACCCAGCTC	0.587																																																0													170	119	136					17																	73872839		2203	4300	6503	SO:0001583	missense	91107			AY026763	CCDS32737.1	17q25	2013-01-09	2011-01-25			ENSG00000132481		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19020	protein-coding gene	gene with protein product		611041	"tripartite motif-containing 47"				Standard	NM_033452		Approved	GOA, RNF100	uc002jpw.3	Q96LD4		ENST00000254816.2:c.731C>T	chr17.hg19:g.73872839G>A	ENSP00000254816:p.Ala244Val		Q96AD0|Q96GU5|Q9BRN7	Missense_Mutation	SNP	ENST00000254816.2	hg19	CCDS32737.1	.	.	.	.	.	.	.	.	.	.	G	14.00	2.404309	0.42613	.	.	ENSG00000132481	ENST00000254816	T	0.45276	0.9	4.91	4.91	0.64330	.	0.105328	0.42682	D	0.000664	T	0.27524	0.0676	N	0.24115	0.695	0.37335	D	0.910149	B	0.02656	0.0	B	0.06405	0.002	T	0.14783	-1.0460	10	0.39692	T	0.17	.	9.121	0.36786	0.097:0.0:0.903:0.0	.	244	Q96LD4	TRI47_HUMAN	V	244	ENSP00000254816:A244V	ENSP00000254816:A244V	A	-	2	0	TRIM47	71384434	0.747000	0.28283	0.927000	0.36925	0.785000	0.44390	3.752000	0.55172	2.560000	0.86352	0.511000	0.50034	GCT		0.587	TRIM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448934.1			A	73872839	G	A	73872839	3	1	674	1	0	0	0	0	1	0	0	0	16527	971	34	2	1205	2	TRIM47	17	73872839	Missense_Mutation	SNP	G	TCGA-HE-A5NI-01A-11D-A26P-10	8510290	73872839	7322371	85	37127											
MADCAM1	8174	hgsc.bcm.edu	37	19	504882	504883	+	Missense_Mutation	DNP	CC	CC	AT			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr19:504882_504883CC>AT	ENST00000215637.3	+	5	1112_1113	c.1066_1067CC>AT	c.(1066-1068)CCa>ATa	p.P356I	MADCAM1_ENST00000382683.4_Missense_Mutation_p.P174I|MADCAM1_ENST00000346144.4_Missense_Mutation_p.P269I|TPGS1_ENST00000359315.5_5'Flank|AC005775.2_ENST00000592413.1_RNA|MADCAM1_ENST00000587541.1_Missense_Mutation_p.P137I	NM_130760.2	NP_570116.2	Q13477	MADCA_HUMAN	mucosal vascular addressin cell adhesion molecule 1	356					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)		CACCCACCCACCAGCTTCTCTG	0.673																																																0																																										SO:0001583	missense	8174			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	Exception_encountered	chr19.hg19:g.504882_504883delinsAT	ENSP00000215637:p.Pro356Ile		A5PKV4|B2RPL9|O60222|O75867|Q5UGI7	Missense_Mutation	SNP	ENST00000215637.3	hg19	CCDS12028.1																																																																																				0.673	MADCAM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451884.1	NM_130760		AT	504883	CC	AT	504882	3	1	674	1	0	0	0	0	1	0	0	0	9153	507	18	4	1084	4	MADCAM1	19	504882	Missense_Mutation	DNP	CC	TCGA-HE-A5NI-01A-11D-A26P-10		504882	58624101	86	37128											
PLIN4	729359	hgsc.bcm.edu	37	19	4511773	4511773	+	Silent	SNP	G	G	A			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr19:4511773G>A	ENST00000301286.3	-	3	2156	c.2157C>T	c.(2155-2157)gtC>gtT	p.V719V		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	719	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						CCCCACTGCAGACGGTGTCCT	0.572																																																0													210	212	211					19																	4511773		2098	4206	6304	SO:0001819	synonymous_variant	729359			AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"Perilipins"	29393	protein-coding gene	gene with protein product		613247	"KIAA1881"	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.2157C>T	chr19.hg19:g.4511773G>A			A6NEI2	Silent	SNP	ENST00000301286.3	hg19	CCDS45927.1																																																																																				0.572	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		A	4511773	G	A	4511773	2	1	674	1	0	0	0	0	0	0	0	1	12094	929	33	2		2	PLIN4	19	4511773	Silent	SNP	G	TCGA-HE-A5NI-01A-11D-A26P-10	4006891	4511773	54617210	87	37129											
PLIN3	10226	hgsc.bcm.edu	37	19	4839279	4839279	+	Missense_Mutation	SNP	C	C	G			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr19:4839279C>G	ENST00000221957.4	-	8	1406	c.1230G>C	c.(1228-1230)caG>caC	p.Q410H	PLIN3_ENST00000585479.1_Missense_Mutation_p.Q409H|CTC-518P12.6_ENST00000591657.1_RNA|PLIN3_ENST00000592528.1_Missense_Mutation_p.Q398H	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN	perilipin 3	410					vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|membrane (GO:0016020)				cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	CAGGTGTGTTCTGGGCCACAT	0.632																																																0													66	70	69					19																	4839279		2203	4300	6503	SO:0001583	missense	10226			AF051314	CCDS12137.1, CCDS59337.1, CCDS59338.1	19p13.3	2009-08-12	2009-08-12	2009-08-12		ENSG00000105355		"Perilipins"	16893	protein-coding gene	gene with protein product	"cargo selection protein (mannose 6 phosphate receptor binding protein)", "placental protein 17", "MPR-BINDING PROTEIN, 47-KD"	602702	"mannose-6-phosphate receptor binding protein 1"	M6PRBP1		9590177, 6856484, 19638644	Standard	NM_005817		Approved	TIP47, PP17	uc002mbj.2	O60664		ENST00000221957.4:c.1230G>C	chr19.hg19:g.4839279C>G	ENSP00000221957:p.Gln410His		A8K4Y9|K7EQF4|Q53G77|Q9BS03|Q9UBD7|Q9UP92	Missense_Mutation	SNP	ENST00000221957.4	hg19	CCDS12137.1	.	.	.	.	.	.	.	.	.	.	C	7.106	0.575129	0.13623	.	.	ENSG00000105355	ENST00000221957	T	0.18960	2.18	4.97	2.65	0.31530	.	0.938934	0.08920	N	0.874576	T	0.19287	0.0463	L	0.28192	0.835	0.34333	D	0.68787	B;B;B	0.23249	0.027;0.082;0.033	B;B;B	0.25140	0.022;0.058;0.038	T	0.21690	-1.0238	10	0.37606	T	0.19	-13.9129	16.1339	0.81465	0.0:0.4858:0.5141:0.0	.	409;227;410	O60664-3;O60664-2;O60664	.;.;PLIN3_HUMAN	H	410	ENSP00000221957:Q410H	ENSP00000221957:Q410H	Q	-	3	2	PLIN3	4790279	1.000000	0.71417	0.992000	0.48379	0.108000	0.19459	0.655000	0.24933	1.042000	0.40150	0.561000	0.74099	CAG		0.632	PLIN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450436.1	NM_005817		G	4839279	C	G	4839279	3	3	674	1	0	0	0	0	1	0	0	0	12093	912	32	4	78	4	PLIN3	19	4839279	Missense_Mutation	SNP	C	TCGA-HE-A5NI-01A-11D-A26P-10	327506	4839279	54289704	88	37130											
PLIN3	10226	hgsc.bcm.edu	37	19	4839466	4839466	+	Missense_Mutation	SNP	A	A	C			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr19:4839466A>C	ENST00000221957.4	-	8	1219	c.1043T>G	c.(1042-1044)aTt>aGt	p.I348S	PLIN3_ENST00000585479.1_Missense_Mutation_p.I347S|CTC-518P12.6_ENST00000591657.1_RNA|PLIN3_ENST00000592528.1_Missense_Mutation_p.I336S	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN	perilipin 3	348					vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|membrane (GO:0016020)				cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	GAGGCCCTGAATGCTGGACCC	0.647																																																0													37	31	33					19																	4839466		2203	4300	6503	SO:0001583	missense	10226			AF051314	CCDS12137.1, CCDS59337.1, CCDS59338.1	19p13.3	2009-08-12	2009-08-12	2009-08-12		ENSG00000105355		"Perilipins"	16893	protein-coding gene	gene with protein product	"cargo selection protein (mannose 6 phosphate receptor binding protein)", "placental protein 17", "MPR-BINDING PROTEIN, 47-KD"	602702	"mannose-6-phosphate receptor binding protein 1"	M6PRBP1		9590177, 6856484, 19638644	Standard	NM_005817		Approved	TIP47, PP17	uc002mbj.2	O60664		ENST00000221957.4:c.1043T>G	chr19.hg19:g.4839466A>C	ENSP00000221957:p.Ile348Ser		A8K4Y9|K7EQF4|Q53G77|Q9BS03|Q9UBD7|Q9UP92	Missense_Mutation	SNP	ENST00000221957.4	hg19	CCDS12137.1	.	.	.	.	.	.	.	.	.	.	A	14.10	2.433232	0.43224	.	.	ENSG00000105355	ENST00000221957	T	0.20332	2.08	4.85	4.85	0.62838	.	422.645000	0.01670	U	0.025543	T	0.50120	0.1597	M	0.78637	2.42	0.27909	N	0.93868	D;P;D	0.56746	0.971;0.937;0.977	P;P;D	0.64506	0.879;0.698;0.926	T	0.06881	-1.0802	10	0.87932	D	0	-13.3555	9.052	0.36383	0.9163:0.0:0.0837:0.0	.	347;165;348	O60664-3;O60664-2;O60664	.;.;PLIN3_HUMAN	S	348	ENSP00000221957:I348S	ENSP00000221957:I348S	I	-	2	0	PLIN3	4790466	0.801000	0.28930	0.975000	0.42487	0.034000	0.12701	3.474000	0.53129	1.817000	0.53016	0.454000	0.30748	ATT		0.647	PLIN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450436.1	NM_005817		C	4839466	A	C	4839466	3	2	674	1	0	0	0	0	1	0	0	0	12093	101	4	5	265	5	PLIN3	19	4839466	Missense_Mutation	SNP	A	TCGA-HE-A5NI-01A-11D-A26P-10	187	4839466	54289517	89	37131											
DCAF15	90379	hgsc.bcm.edu	37	19	14070072	14070072	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr19:14070072G>A	ENST00000254337.6	+	7	1021	c.1000G>A	c.(1000-1002)Gcc>Acc	p.A334T		NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	334					protein ubiquitination (GO:0016567)					breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						GGCCAAAGAGGCCAAGGGCGG	0.682																																																0													27	35	32					19																	14070072		2203	4300	6503	SO:0001583	missense	90379			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.1000G>A	chr19.hg19:g.14070072G>A	ENSP00000254337:p.Ala334Thr		B3KS86|Q96DW0|Q9BU31	Missense_Mutation	SNP	ENST00000254337.6	hg19	CCDS32926.1	.	.	.	.	.	.	.	.	.	.	g	32	5.112699	0.94339	.	.	ENSG00000132017	ENST00000254337	.	.	.	4.46	4.46	0.54185	.	0.085620	0.44097	D	0.000488	T	0.60470	0.2271	L	0.29908	0.895	0.41151	D	0.986027	D	0.54207	0.965	P	0.55871	0.786	T	0.65998	-0.6032	9	0.62326	D	0.03	-24.0048	15.8605	0.79017	0.0:0.0:1.0:0.0	.	334	Q66K64	DCA15_HUMAN	T	334	.	ENSP00000254337:A334T	A	+	1	0	DCAF15	13931072	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.504000	0.66968	2.043000	0.60533	0.491000	0.48974	GCC		0.682	DCAF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458099.1	NM_138353		A	14070072	G	A	14070072	3	1	674	1	0	0	0	0	1	0	0	0	4269	1203	42	2	1026	2	DCAF15	19	14070072	Missense_Mutation	SNP	G	TCGA-HE-A5NI-01A-11D-A26P-10	9230606	14070072	45058911	90	37132											
TECR	9524	hgsc.bcm.edu	37	19	14674655	14674657	+	In_Frame_Del	DEL	CGT	CGT	-	rs367952165|rs201634024		TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	CGT	CGT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr19:14674655_14674657delCGT	ENST00000215567.5	+	5	344_346	c.207_209delCGT	c.(205-210)cccgtg>ccg	p.V70del	TECR_ENST00000596164.1_3'UTR|TECR_ENST00000436007.2_In_Frame_Del_p.V85del|TECR_ENST00000600083.1_5'UTR|TECR_ENST00000596073.1_5'UTR	NM_138501.5	NP_612510.1	Q9NZ01	TECR_HUMAN	trans-2,3-enoyl-CoA reductase	70					cellular lipid metabolic process (GO:0044255)|fatty acid elongation (GO:0030497)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|nucleus (GO:0005634)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(1)|large_intestine(1)|ovary(1)	3						AGAAGCTGCCCGTGGGCACCACG	0.66																																																0																																										SO:0001651	inframe_deletion	9524			AK001416	CCDS12313.1	19p13.12	2014-05-27	2009-07-21	2009-07-21	ENSG00000099797	ENSG00000099797			4551	protein-coding gene	gene with protein product		610057	"glycoprotein, synaptic 2"	SC2, GPSN2		9653160, 12482854	Standard	NM_138501		Approved	TER, MRT14	uc002mza.3	Q9NZ01		ENST00000215567.5:c.207_209delCGT	chr19.hg19:g.14674655_14674657delCGT	ENSP00000215567:p.Val70del		B2RD55|O75350|Q6IBB2|Q9BWK3|Q9Y6P0	In_Frame_Del	DEL	ENST00000215567.5	hg19	CCDS12313.1																																																																																				0.66	TECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466000.1	NM_138501		-	14674657	CGT	-	14674655	7	5	674	1	0	1	0	1	0	0	0	0	15750	639	23	0	225	0	TECR	19	14674655	In_Frame_Del	DEL	CGT	TCGA-HE-A5NI-01A-11D-A26P-10	604583	14674655	44454328	91	37133											
NAPA	8775	hgsc.bcm.edu	37	19	47996229	47996229	+	Missense_Mutation	SNP	T	T	C			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr19:47996229T>C	ENST00000263354.3	-	7	849	c.550A>G	c.(550-552)Atc>Gtc	p.I184V	NAPA-AS1_ENST00000594367.1_RNA|NAPA_ENST00000595227.1_Missense_Mutation_p.I145V|NAPA-AS1_ENST00000593284.1_RNA|NAPA_ENST00000593785.1_5'Flank	NM_003827.3	NP_003818.2	P54920	SNAA_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, alpha	184					apical protein localization (GO:0045176)|brain development (GO:0007420)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|membrane organization (GO:0061024)|neuron differentiation (GO:0030182)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of synaptic vesicle priming (GO:0010807)|SNARE complex disassembly (GO:0035494)|synaptic transmission, glutamatergic (GO:0035249)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)	11		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049)		TGTTCGTAGATGTCAATGGCC	0.607																																					Ovarian(185;1135 2042 27703 31345 42493)											0													113	101	105					19																	47996229		2203	4300	6503	SO:0001583	missense	8775			U39412	CCDS12702.1	19q13.33	2012-08-16			ENSG00000105402	ENSG00000105402			7641	protein-coding gene	gene with protein product	"alpha SNAP"	603215				9269766	Standard	NM_003827		Approved		uc002pha.2	P54920		ENST00000263354.3:c.550A>G	chr19.hg19:g.47996229T>C	ENSP00000263354:p.Ile184Val		A8K879|Q96IK3|Q9BVJ3	Missense_Mutation	SNP	ENST00000263354.3	hg19	CCDS12702.1	.	.	.	.	.	.	.	.	.	.	T	13.73	2.323538	0.41096	.	.	ENSG00000105402	ENST00000263354	T	0.76448	-1.02	5.16	5.16	0.70880	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.77605	0.4155	M	0.76170	2.325	0.80722	D	1	B	0.16603	0.018	B	0.20577	0.03	T	0.75190	-0.3405	10	0.45353	T	0.12	-33.228	14.1002	0.65049	0.0:0.0:0.0:1.0	.	184	P54920	SNAA_HUMAN	V	184	ENSP00000263354:I184V	ENSP00000263354:I184V	I	-	1	0	NAPA	52688041	1.000000	0.71417	1.000000	0.80357	0.456000	0.32438	7.585000	0.82584	2.168000	0.68352	0.496000	0.49642	ATC		0.607	NAPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466048.2	NM_003827		C	47996229	T	C	47996229	3	2	674	1	0	0	0	0	1	0	0	0	10163	1464	51	3	357	3	NAPA	19	47996229	Missense_Mutation	SNP	T	TCGA-HE-A5NI-01A-11D-A26P-10	33321574	47996229	11132754	92	37134											
ZNF836	162962	hgsc.bcm.edu	37	19	52658860	52658860	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr19:52658860delT	ENST00000322146.8	-	5	2597	c.2076delA	c.(2074-2076)aaafs	p.K692fs	CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Frame_Shift_Del_p.K692fs	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	692					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						AATTGTAAGGTTTCTCTCCAG	0.393																																																0													71	76	74					19																	52658860		2071	4245	6316	SO:0001589	frameshift_variant	162962			BC011784	CCDS46162.1	19q13.33	2013-01-08			ENSG00000196267	ENSG00000196267		"Zinc fingers, C2H2-type", "-"	34333	protein-coding gene	gene with protein product							Standard	NM_001102657		Approved	FLJ16287	uc010ydj.2	Q6ZNA1		ENST00000322146.8:c.2076delA	chr19.hg19:g.52658860delT	ENSP00000325038:p.Lys692fs			Frame_Shift_Del	DEL	ENST00000322146.8	hg19	CCDS46162.1																																																																																				0.393	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462456.1	NM_001102657		-	52658860	T	-	52658860	7	5	674	1	0	1	0	1	0	0	0	0	18192	1722	60	0	736	0	ZNF836	19	52658860	Frame_Shift_Del	DEL	T	TCGA-HE-A5NI-01A-11D-A26P-10	4662631	52658860	6470123	93	37135											
MZF1	7593	hgsc.bcm.edu	37	19	59082640	59082640	+	Silent	SNP	G	G	A			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr19:59082640G>A	ENST00000215057.2	-	2	677	c.117C>T	c.(115-117)ggC>ggT	p.G39G	MZF1_ENST00000599369.1_Silent_p.G39G|MZF1_ENST00000594108.1_Silent_p.G39G|MZF1_ENST00000594234.1_Silent_p.G39G|AC016629.8_ENST00000593642.1_RNA|AC016629.8_ENST00000600726.1_RNA|AC016629.8_ENST00000600534.1_RNA	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	39					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	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)|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 regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		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;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		CAGCTTCAGGGCCTGGGTCCC	0.657																																																0													26	29	28					19																	59082640		2203	4300	6503	SO:0001819	synonymous_variant	7593			M58297	CCDS12988.1, CCDS59427.1	19q13.43	2014-08-22	2006-06-15	2006-06-15	ENSG00000099326	ENSG00000099326		"-", "Zinc fingers, C2H2-type"	13108	protein-coding gene	gene with protein product		194550	"zinc finger protein 42 (myeloid-specific retinoic acid-responsive)"	ZNF42		1860835	Standard	NM_198055		Approved	ZSCAN6, MZF1B, MZF-1, Zfp98	uc002qtn.3	P28698	OTTHUMG00000183550	ENST00000215057.2:c.117C>T	chr19.hg19:g.59082640G>A			M0QXU0|Q7Z729|Q96I71|Q9NRY0|Q9UBW2	Silent	SNP	ENST00000215057.2	hg19	CCDS12988.1																																																																																				0.657	MZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467112.1	NM_198055		A	59082640	G	A	59082640	2	1	674	1	0	0	0	0	0	0	0	1	10110	1190	42	2		2	MZF1	19	59082640	Silent	SNP	G	TCGA-HE-A5NI-01A-11D-A26P-10	6423780	59082640	46343	94	37136											
PLCB1	23236	hgsc.bcm.edu	37	20	8608961	8608961	+	Silent	SNP	T	T	G			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr20:8608961T>G	ENST00000338037.6	+	4	294	c.267T>G	c.(265-267)ctT>ctG	p.L89L	PLCB1_ENST00000378637.2_Silent_p.L89L|PLCB1_ENST00000378641.3_Silent_p.L89L	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	89					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						TACGTGAACTTTTGGATGTGG	0.443																																																0													78	78	78					20																	8608961		2203	4300	6503	SO:0001819	synonymous_variant	23236			AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.267T>G	chr20.hg19:g.8608961T>G			D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	hg19	CCDS13102.1																																																																																				0.443	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			G	8608961	T	G	8608961	2	3	674	1	0	0	0	0	0	0	0	1	12029	1828	64	5		5	PLCB1	20	8608961	Silent	SNP	T	TCGA-HE-A5NI-01A-11D-A26P-10		8608961	54416559	95	37137											
ASIP	434	hgsc.bcm.edu	37	20	32856797	32856797	+	Splice_Site	SNP	A	A	G	rs538816237		TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr20:32856797A>G	ENST00000568305.1	+	4	425	c.223A>G	c.(223-225)Aag>Gag	p.K75E	RP4-785G19.5_ENST00000512005.1_RNA|ASIP_ENST00000374954.3_Splice_Site_p.K75E			P42127	ASIP_HUMAN	agouti signaling protein	75	Arg/Lys-rich (basic).				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						TCCCACGCAGAAGGAGGCTTC	0.697													A|||	1	0.000199681	0.0	0.0	5008	,	,		12806	0.001		0.0	False		,,,				2504	0.0															0													8	11	10					20																	32856797		2188	4282	6470	SO:0001630	splice_region_variant	434				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.223-1A>G	chr20.hg19:g.32856797A>G			Q3SXL2	Missense_Mutation	SNP	ENST00000568305.1	hg19	CCDS13232.1	.	.	.	.	.	.	.	.	.	.	A	15.14	2.744523	0.49151	.	.	ENSG00000101440	ENST00000374954	T	0.31769	1.48	4.61	4.61	0.57282	.	0.063957	0.64402	D	0.000013	T	0.48660	0.1512	M	0.82323	2.585	0.40299	D	0.978584	P	0.51240	0.943	P	0.54346	0.749	T	0.54970	-0.8213	9	.	.	.	.	10.3603	0.43989	1.0:0.0:0.0:0.0	.	75	P42127	ASIP_HUMAN	E	75	ENSP00000364092:K75E	.	K	+	1	0	ASIP	32320458	1.000000	0.71417	1.000000	0.80357	0.127000	0.20565	3.560000	0.53763	1.942000	0.56320	0.397000	0.26171	AAG		0.697	ASIP-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430541.1		Missense_Mutation	G	32856797	A	G	32856797	5	3	674	1	0	0	0	0	0	0	1	0	1043	260	9	3	233	3	ASIP	20	32856797	Splice_Site	SNP	A	TCGA-HE-A5NI-01A-11D-A26P-10	24247836	32856797	30168723	96	37138											
SALL4	57167	hgsc.bcm.edu	37	20	50401006	50401006	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr20:50401006delA	ENST00000217086.4	-	4	3071	c.2960delT	c.(2959-2961)atcfs	p.I987fs	SALL4_ENST00000371539.3_Frame_Shift_Del_p.I210fs|SALL4_ENST00000395997.3_Frame_Shift_Del_p.I550fs	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	987					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						GATCACAGAGATCTCATTGGT	0.572																																																0													85	78	80					20																	50401006		2203	4300	6503	SO:0001589	frameshift_variant	57167			AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"Zinc fingers, C2H2-type"	15924	protein-coding gene	gene with protein product		607343	"sal (Drosophila)-like 4", "sal-like 4 (Drosophila)"				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.2960delT	chr20.hg19:g.50401006delA	ENSP00000217086:p.Ile987fs		A2A2D8|Q540H3|Q6Y8G6	Frame_Shift_Del	DEL	ENST00000217086.4	hg19	CCDS13438.1																																																																																				0.572	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			-	50401006	A	-	50401006	7	5	674	1	0	1	0	1	0	0	0	0	13819	333	12	0	205	0	SALL4	20	50401006	Frame_Shift_Del	DEL	A	TCGA-HE-A5NI-01A-11D-A26P-10	17544209	50401006	12624514	97	37139											
ARVCF	421	hgsc.bcm.edu	37	22	19967432	19967432	+	Missense_Mutation	SNP	G	G	T			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr22:19967432G>T	ENST00000263207.3	-	6	1521	c.1230C>A	c.(1228-1230)gaC>gaA	p.D410E	ARVCF_ENST00000406259.1_Missense_Mutation_p.D410E|ARVCF_ENST00000344269.3_Missense_Mutation_p.D347E|ARVCF_ENST00000487793.1_5'Flank|ARVCF_ENST00000401994.1_Missense_Mutation_p.D347E|ARVCF_ENST00000406522.1_Missense_Mutation_p.D347E	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	410					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)					CCCGCGGGTGGTCCAGCAGTG	0.682																																																0													19	19	19					22																	19967432		2178	4274	6452	SO:0001583	missense	421				CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"Armadillo repeat containing"	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.1230C>A	chr22.hg19:g.19967432G>T	ENSP00000263207:p.Asp410Glu		B7WNV2	Missense_Mutation	SNP	ENST00000263207.3	hg19	CCDS13771.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.167282	0.57476	.	.	ENSG00000099889	ENST00000263207;ENST00000344269;ENST00000401994;ENST00000406522;ENST00000406259	T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81	4.51	-0.0128	0.13987	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.42040	0.1185	L	0.28115	0.83	0.50171	D	0.999858	P	0.39601	0.68	P	0.51742	0.678	T	0.11966	-1.0566	9	.	.	.	-21.2014	9.1754	0.37109	0.4923:0.0:0.5077:0.0	.	410	O00192	ARVC_HUMAN	E	410;347;347;347;410	ENSP00000263207:D410E;ENSP00000342042:D347E;ENSP00000384341:D347E;ENSP00000384732:D347E;ENSP00000385444:D410E	.	D	-	3	2	ARVCF	18347432	0.997000	0.39634	0.997000	0.53966	0.684000	0.39900	0.345000	0.19979	0.012000	0.14892	-0.131000	0.14894	GAC		0.682	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075314.5	NM_001670		T	19967432	G	T	19967432	3	4	674	1	0	0	0	0	1	0	0	0	1003	1252	44	4	1714	4	ARVCF	22	19967432	Missense_Mutation	SNP	G	TCGA-HE-A5NI-01A-11D-A26P-10		19967432	31337134	98	37140											
LARGE	9215	hgsc.bcm.edu	37	22	33679190	33679190	+	Silent	SNP	G	G	A			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chr22:33679190G>A	ENST00000354992.2	-	14	2446	c.1875C>T	c.(1873-1875)ttC>ttT	p.F625F	LARGE_ENST00000337431.2_Silent_p.F573F|LARGE_ENST00000437602.2_Intron|LARGE_ENST00000452586.2_Silent_p.F424F|LARGE_ENST00000397394.2_Silent_p.F625F|LARGE_ENST00000402320.1_Silent_p.F573F	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	625					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)				CCACTCACCTGAATGTGAAGA	0.552																																					Colon(70;397 1175 4573 19089 45288)											0													140	124	129					22																	33679190		2203	4300	6503	SO:0001819	synonymous_variant	9215			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.1875C>T	chr22.hg19:g.33679190G>A			B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Silent	SNP	ENST00000354992.2	hg19	CCDS13912.1																																																																																				0.552	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320515.2	NM_133642		A	33679190	G	A	33679190	2	1	674	1	0	0	0	0	0	0	0	1	8629	1281	45	2		2	LARGE	22	33679190	Silent	SNP	G	TCGA-HE-A5NI-01A-11D-A26P-10	13711758	33679190	17625376	99	37141											
SFRS17A	8227	hgsc.bcm.edu	37	X	1714403	1714403	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chrX:1714403G>A	ENST00000313871.3	+	3	1085	c.889G>A	c.(889-891)Gag>Aag	p.E297K	AKAP17A_ENST00000381261.3_Missense_Mutation_p.E297K	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	297					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						GGAAGCGGAGGAGAGGCAGCG	0.607																																																0													253	268	263					X																	1714403		2203	4296	6499	SO:0001583	missense	8227			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.889G>A	chrX.hg19:g.1714403G>A	ENSP00000324827:p.Glu297Lys		Q02832|Q2TB98|Q5JQ74|Q5JQ76|Q8N6U9	Missense_Mutation	SNP	ENST00000313871.3	hg19	CCDS14116.1	.	.	.	.	.	.	.	.	.	.	g	6.684	0.494845	0.12702	.	.	ENSG00000197976	ENST00000313871;ENST00000381261	T;T	0.41400	1.59;1.0	2.29	2.29	0.28610	.	0.000000	0.64402	U	0.000001	T	0.57373	0.2049	.	.	.	0.09310	N	0.999995	D;P	0.60575	0.988;0.823	D;P	0.73708	0.981;0.805	T	0.50162	-0.8860	9	0.36615	T	0.2	.	13.0471	0.58933	0.0:0.0:1.0:0.0	.	297;297	Q02040-3;Q02040	.;AK17A_HUMAN	K	297	ENSP00000324827:E297K;ENSP00000370660:E297K	ENSP00000324827:E297K	E	+	1	0	AKAP17A	1674403	1.000000	0.71417	0.362000	0.25862	0.418000	0.31294	3.642000	0.54367	0.973000	0.38340	0.100000	0.15512	GAG		0.607	AKAP17A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055609.2	NM_005088		A	1714403	G	A	1714403	3	1	674	1	0	0	0	0	1	0	0	0	14179	1175	41	2	895	2	SFRS17A	23	1714403	Missense_Mutation	SNP	G	TCGA-HE-A5NI-01A-11D-A26P-10		1714403	153556157	100	37142											
BCOR	54880	hgsc.bcm.edu	37	X	39923132	39923132	+	Silent	SNP	G	G	T			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chrX:39923132G>T	ENST00000378444.4	-	8	3804	c.3576C>A	c.(3574-3576)acC>acA	p.T1192T	BCOR_ENST00000378455.4_Intron|BCOR_ENST00000342274.4_Intron|BCOR_ENST00000378463.1_Intron|BCOR_ENST00000397354.3_Intron	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1192					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						CCTTCAGGTTGGTCAGCTCAC	0.453			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic																																Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		0													57	55	55					X																	39923132		2202	4300	6502	SO:0001819	synonymous_variant	54880			AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"Ankyrin repeat domain containing"	20893	protein-coding gene	gene with protein product		300485	"BCL6 co-repressor"			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.3576C>A	chrX.hg19:g.39923132G>T			D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Silent	SNP	ENST00000378444.4	hg19	CCDS48093.1																																																																																				0.453	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		T	39923132	G	T	39923132	2	4	674	1	0	0	0	0	0	0	0	1	1386	1335	47	4		4	BCOR	23	39923132	Silent	SNP	G	TCGA-HE-A5NI-01A-11D-A26P-10	38208729	39923132	115347428	101	37143											
GATA1	2623	hgsc.bcm.edu	37	X	48650855	48650855	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chrX:48650855delA	ENST00000376670.3	+	4	835	c.724delA	c.(724-726)atcfs	p.I242fs	GATA1_ENST00000376665.3_Frame_Shift_Del_p.I242fs	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	242					basophil differentiation (GO:0030221)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cellular response to thyroid hormone stimulus (GO:0097067)|dendritic cell differentiation (GO:0097028)|embryonic hemopoiesis (GO:0035162)|eosinophil differentiation (GO:0030222)|eosinophil fate commitment (GO:0035854)|erythrocyte development (GO:0048821)|erythrocyte differentiation (GO:0030218)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|megakaryocyte differentiation (GO:0030219)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of definitive erythrocyte differentiation (GO:0010724)|regulation of glycoprotein biosynthetic process (GO:0010559)|transcription from RNA polymerase II promoter (GO:0006366)|transcriptional activation by promoter-enhancer looping (GO:0071733)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	C2H2 zinc finger domain binding (GO:0070742)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer sequence-specific DNA binding (GO:0001158)|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 regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						CAGGCCCCTCATCCGGCCCAA	0.562			"Mis, F"		megakaryoblastic leukemia of Downs Syndrome																																Pancreas(9;429 505 11287 29617)		Dom	yes		X	Xp11.23	2623	GATA binding protein 1 (globin transcription factor 1)		L	0													62	58	59					X																	48650855		2203	4300	6503	SO:0001589	frameshift_variant	2623			X17254	CCDS14305.1	Xp11.23	2014-09-17	2001-11-28		ENSG00000102145	ENSG00000102145		"GATA zinc finger domain containing"	4170	protein-coding gene	gene with protein product	"nuclear factor, erythroid 1"	305371	"GATA-binding protein 1 (globin transcription factor 1)"	GF1		1999341	Standard	NM_002049		Approved	ERYF1, NFE1, GATA-1, NF-E1	uc004dkq.4	P15976	OTTHUMG00000021504	ENST00000376670.3:c.724delA	chrX.hg19:g.48650855delA	ENSP00000365858:p.Ile242fs		Q96GB8	Frame_Shift_Del	DEL	ENST00000376670.3	hg19	CCDS14305.1																																																																																				0.562	GATA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056517.1	NM_002049		-	48650855	A	-	48650855	7	5	674	1	0	1	0	1	0	0	0	0	6255	217	8	0	734	0	GATA1	23	48650855	Frame_Shift_Del	DEL	A	TCGA-HE-A5NI-01A-11D-A26P-10	8727723	48650855	106619705	102	37144											
PRRG3	79057	hgsc.bcm.edu	37	X	150869380	150869380	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HE-A5NI-01A-11D-A26P-10	TCGA-HE-A5NI-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	40a609bb-2c8f-4146-83c4-e7b0d1b23619	a08286b5-7084-40d6-bbfe-9601634344bc	g.chrX:150869380delC	ENST00000370353.3	+	4	961	c.571delC	c.(571-573)cccfs	p.P192fs	PRRG3_ENST00000538575.1_Frame_Shift_Del_p.P192fs			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	192						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					CACCACCCCTCCCCCCTCCTA	0.647																																																0													55	44	48					X																	150869380		2203	4300	6503	SO:0001589	frameshift_variant	79057			AK074574	CCDS14699.1	Xq28	2008-02-05			ENSG00000130032	ENSG00000130032			30798	protein-coding gene	gene with protein product		300685				11171957	Standard	NM_024082		Approved	TMG3	uc022cgt.1	Q9BZD7	OTTHUMG00000024170	ENST00000370353.3:c.571delC	chrX.hg19:g.150869380delC	ENSP00000359378:p.Pro192fs		A1A523|A1A575|Q8N2N6	Frame_Shift_Del	DEL	ENST00000370353.3	hg19	CCDS14699.1																																																																																				0.647	PRRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060880.1	NM_024082		-	150869380	C	-	150869380	7	5	674	1	0	1	0	1	0	0	0	0	12612	855	30	0	581	0	PRRG3	23	150869380	Frame_Shift_Del	DEL	C	TCGA-HE-A5NI-01A-11D-A26P-10	102218525	150869380	4401180	103	37145											
ARID1A	8289	hgsc.bcm.edu	37	1	27106015	27106015	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HE-A5NJ-01A-11D-A26P-10	TCGA-HE-A5NJ-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9dbd55c-5dcc-48db-8785-6baef3fdd7db	de0653ad-a848-4f4b-b675-6cb625cb5167	g.chr1:27106015delC	ENST00000324856.7	+	20	5997	c.5626delC	c.(5626-5628)ccafs	p.P1876fs	ARID1A_ENST00000374152.2_Frame_Shift_Del_p.P1493fs|ARID1A_ENST00000457599.2_Frame_Shift_Del_p.P1659fs|ARID1A_ENST00000540690.1_Frame_Shift_Del_p.P204fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1876					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)		ACCCTGCCCACCAGCCCCTCG	0.622			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																		Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0													64	70	68					1																	27106015		2203	4300	6503	SO:0001589	frameshift_variant	8289			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.5626delC	chr1.hg19:g.27106015delC	ENSP00000320485:p.Pro1876fs		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Del	DEL	ENST00000324856.7	hg19	CCDS285.1																																																																																				0.622	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		-	27106015	C	-	27106015	7	5	675	1	0	1	0	1	0	0	0	0	913	507	18	0	5704	0	ARID1A	1	27106015	Frame_Shift_Del	DEL	C	TCGA-HE-A5NJ-01A-11D-A26P-10		27106015	222144606	1	37146											
FAM46B	115572	hgsc.bcm.edu	37	1	27332779	27332779	+	Missense_Mutation	SNP	C	C	T			TCGA-HE-A5NJ-01A-11D-A26P-10	TCGA-HE-A5NJ-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9dbd55c-5dcc-48db-8785-6baef3fdd7db	de0653ad-a848-4f4b-b675-6cb625cb5167	g.chr1:27332779C>T	ENST00000289166.5	-	2	1099	c.934G>A	c.(934-936)Gac>Aac	p.D312N		NM_052943.3	NP_443175.2	Q96A09	FA46B_HUMAN	family with sequence similarity 46, member B	312										breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10		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;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)		TCTGGAAAGTCGATGAAGAAG	0.677																																																0													20	23	22					1																	27332779		2199	4296	6495	SO:0001583	missense	115572			AK122816	CCDS294.2	1p35.3	2008-02-05			ENSG00000158246	ENSG00000158246			28273	protein-coding gene	gene with protein product						12477932	Standard	NM_052943		Approved	MGC16491	uc010ofj.2	Q96A09	OTTHUMG00000004278	ENST00000289166.5:c.934G>A	chr1.hg19:g.27332779C>T	ENSP00000289166:p.Asp312Asn			Missense_Mutation	SNP	ENST00000289166.5	hg19	CCDS294.2	.	.	.	.	.	.	.	.	.	.	C	34	5.352046	0.95830	.	.	ENSG00000158246	ENST00000289166	T	0.39406	1.08	5.31	5.31	0.75309	Domain of unknown function DUF1693 (1);	0.178869	0.64402	D	0.000014	T	0.73329	0.3573	M	0.90870	3.155	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79398	-0.1820	10	0.87932	D	0	-6.0156	19.1626	0.93539	0.0:1.0:0.0:0.0	.	312	Q96A09	FA46B_HUMAN	N	312	ENSP00000289166:D312N	ENSP00000289166:D312N	D	-	1	0	FAM46B	27205366	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.651000	0.83577	2.768000	0.95171	0.561000	0.74099	GAC		0.677	FAM46B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012347.2	NM_052943		T	27332779	C	T	27332779	3	4	675	1	0	0	0	0	1	0	0	0	5568	884	31	1	347	1	FAM46B	1	27332779	Missense_Mutation	SNP	C	TCGA-HE-A5NJ-01A-11D-A26P-10	226764	27332779	221917842	2	37147											
TMEM125	128218	hgsc.bcm.edu	37	1	43739036	43739036	+	Missense_Mutation	SNP	A	A	G			TCGA-HE-A5NJ-01A-11D-A26P-10	TCGA-HE-A5NJ-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9dbd55c-5dcc-48db-8785-6baef3fdd7db	de0653ad-a848-4f4b-b675-6cb625cb5167	g.chr1:43739036A>G	ENST00000432792.2	+	4	1213	c.643A>G	c.(643-645)Att>Gtt	p.I215V	TMEM125_ENST00000439858.1_Missense_Mutation_p.I215V			Q96AQ2	TM125_HUMAN	transmembrane protein 125	215						integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(1)	3	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CACATCCAGCATTGCCAGCCT	0.627																																																0													35	29	31					1																	43739036		2203	4300	6503	SO:0001583	missense	128218			BC016858	CCDS480.1	1p34.2	2006-02-16			ENSG00000179178	ENSG00000179178			28275	protein-coding gene	gene with protein product							Standard	NM_144626		Approved	MGC17299	uc021oml.1	Q96AQ2	OTTHUMG00000007288	ENST00000432792.2:c.643A>G	chr1.hg19:g.43739036A>G	ENSP00000429275:p.Ile215Val		D3DPX1	Missense_Mutation	SNP	ENST00000432792.2	hg19	CCDS480.1	.	.	.	.	.	.	.	.	.	.	A	13.78	2.340390	0.41498	.	.	ENSG00000179178	ENST00000439858;ENST00000432792	T;T	0.44482	0.92;0.92	4.91	4.91	0.64330	.	0.123297	0.53938	D	0.000057	T	0.28599	0.0708	N	0.19112	0.55	0.29819	N	0.830963	P	0.34462	0.454	B	0.31337	0.128	T	0.19844	-1.0293	10	0.36615	T	0.2	.	14.5656	0.68173	1.0:0.0:0.0:0.0	.	215	Q96AQ2	TM125_HUMAN	V	215	ENSP00000429775:I215V;ENSP00000429275:I215V	ENSP00000429275:I215V	I	+	1	0	TMEM125	43511623	1.000000	0.71417	0.997000	0.53966	0.784000	0.44337	2.906000	0.48735	1.842000	0.53543	0.460000	0.39030	ATT		0.627	TMEM125-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019032.2	NM_144626		G	43739036	A	G	43739036	3	3	675	1	0	0	0	0	1	0	0	0	16042	217	8	3	645	3	TMEM125	1	43739036	Missense_Mutation	SNP	A	TCGA-HE-A5NJ-01A-11D-A26P-10	16406257	43739036	205511585	3	37148											
RPTN	126638	hgsc.bcm.edu	37	1	152127305	152127305	+	Missense_Mutation	SNP	C	C	T			TCGA-HE-A5NJ-01A-11D-A26P-10	TCGA-HE-A5NJ-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9dbd55c-5dcc-48db-8785-6baef3fdd7db	de0653ad-a848-4f4b-b675-6cb625cb5167	g.chr1:152127305C>T	ENST00000316073.3	-	3	2334	c.2270G>A	c.(2269-2271)cGa>cAa	p.R757Q		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	757	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						TTGCCTGTCTCGTCTCTGATG	0.512																																																0													835	660	713					1																	152127305		1568	3582	5150	SO:0001583	missense	126638			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.2270G>A	chr1.hg19:g.152127305C>T	ENSP00000317895:p.Arg757Gln		B7ZBZ3	Missense_Mutation	SNP	ENST00000316073.3	hg19	CCDS41397.1	.	.	.	.	.	.	.	.	.	.	C	4.873	0.162231	0.09287	.	.	ENSG00000215853	ENST00000316073;ENST00000541545	T	0.12569	2.67	5.46	-6.92	0.01644	.	1.609200	0.05690	N	0.591997	T	0.02688	0.0081	N	0.25286	0.73	0.09310	N	1	B	0.13145	0.007	B	0.06405	0.002	T	0.25187	-1.0139	10	0.29301	T	0.29	0.289	14.9735	0.71251	0.0:0.6643:0.0:0.3357	.	757	Q6XPR3	RPTN_HUMAN	Q	757;412	ENSP00000317895:R757Q	ENSP00000317895:R757Q	R	-	2	0	RPTN	150393929	0.000000	0.05858	0.000000	0.03702	0.087000	0.18053	-1.478000	0.02329	-2.128000	0.00818	-1.183000	0.01708	CGA		0.512	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		T	152127305	C	T	152127305	3	4	675	1	0	0	0	0	1	0	0	0	13670	884	31	1	88	1	RPTN	1	152127305	Missense_Mutation	SNP	C	TCGA-HE-A5NJ-01A-11D-A26P-10	108388269	152127305	97123316	4	37149											
NUP210L	91181	hgsc.bcm.edu	37	1	154108401	154108401	+	Missense_Mutation	SNP	T	T	C			TCGA-HE-A5NJ-01A-11D-A26P-10	TCGA-HE-A5NJ-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9dbd55c-5dcc-48db-8785-6baef3fdd7db	de0653ad-a848-4f4b-b675-6cb625cb5167	g.chr1:154108401T>C	ENST00000368559.3	-	7	969	c.898A>G	c.(898-900)Aga>Gga	p.R300G	NUP210L_ENST00000271854.3_Missense_Mutation_p.R300G	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	300					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)			AGTGCAACTCTATGGTCTTGC	0.418																																																0													108	99	102					1																	154108401		1876	4103	5979	SO:0001583	missense	91181			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.898A>G	chr1.hg19:g.154108401T>C	ENSP00000357547:p.Arg300Gly		E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	hg19	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	T	10.65	1.410097	0.25465	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	T;T	0.05447	3.44;3.44	5.0	2.53	0.30540	.	0.593551	0.16379	N	0.216995	T	0.01387	0.0045	L	0.44542	1.39	0.09310	N	1	B;B	0.31125	0.201;0.309	B;B	0.21917	0.037;0.037	T	0.48714	-0.9011	10	0.23302	T	0.38	-11.1939	4.5019	0.11869	0.0:0.1237:0.3878:0.4885	.	300;300	E7EP56;Q5VU65	.;P210L_HUMAN	G	300	ENSP00000357547:R300G;ENSP00000271854:R300G	ENSP00000271854:R300G	R	-	1	2	NUP210L	152375025	0.003000	0.15002	0.002000	0.10522	0.896000	0.52359	1.475000	0.35409	0.321000	0.23259	0.533000	0.62120	AGA		0.418	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		C	154108401	T	C	154108401	3	2	675	1	0	0	0	0	1	0	0	0	10763	1530	53	3	4904	3	NUP210L	1	154108401	Missense_Mutation	SNP	T	TCGA-HE-A5NJ-01A-11D-A26P-10	1981096	154108401	95142220	5	37150											
TMEM9	252839	hgsc.bcm.edu	37	1	201123024	201123024	+	Missense_Mutation	SNP	C	C	T			TCGA-HE-A5NJ-01A-11D-A26P-10	TCGA-HE-A5NJ-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9dbd55c-5dcc-48db-8785-6baef3fdd7db	de0653ad-a848-4f4b-b675-6cb625cb5167	g.chr1:201123024C>T	ENST00000367330.1	-	1	544	c.28G>A	c.(28-30)Gtc>Atc	p.V10I	TMEM9_ENST00000367334.5_Missense_Mutation_p.V10I|TMEM9_ENST00000367332.1_Missense_Mutation_p.V10I|TMEM9_ENST00000485839.2_Missense_Mutation_p.V10I|TMEM9_ENST00000367333.2_Missense_Mutation_p.V10I			Q9P0T7	TMEM9_HUMAN	transmembrane protein 9	10					transport (GO:0006810)	integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)				liver(1)|lung(1)|stomach(1)	3		Breast(1374;0.000301)				AAACACCCGACCACAGCCACC	0.582																																																0													70	66	67					1																	201123024		2203	4300	6503	SO:0001583	missense	252839				CCDS1408.1, CCDS73001.1	1q41	2008-02-05			ENSG00000116857	ENSG00000116857			18823	protein-coding gene	gene with protein product							Standard	NM_001288565		Approved	TMEM9A	uc001gvy.3	Q9P0T7	OTTHUMG00000035831	ENST00000367330.1:c.28G>A	chr1.hg19:g.201123024C>T	ENSP00000356299:p.Val10Ile		B1ALM6|Q96NQ9|Q9BQF5	Missense_Mutation	SNP	ENST00000367330.1	hg19	CCDS1408.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.198740	0.58126	.	.	ENSG00000116857	ENST00000367334;ENST00000367332;ENST00000367330;ENST00000367329;ENST00000367333;ENST00000455367;ENST00000435310;ENST00000414605	.	.	.	4.66	3.75	0.43078	.	0.790844	0.10935	N	0.617956	T	0.20210	0.0486	N	0.19112	0.55	0.19300	N	0.999979	B;B;B;B	0.31581	0.329;0.049;0.008;0.003	B;B;B;B	0.25987	0.065;0.039;0.003;0.004	T	0.11641	-1.0579	9	0.08599	T	0.76	-18.4909	9.8146	0.40844	0.0:0.9026:0.0:0.0974	.	10;10;10;10	B4DJZ4;B4E1H4;B1ALM5;Q9P0T7	.;.;.;TMEM9_HUMAN	I	10	.	ENSP00000356298:V10I	V	-	1	0	TMEM9	199389647	0.000000	0.05858	0.772000	0.31596	0.991000	0.79684	0.133000	0.15912	1.175000	0.42826	0.557000	0.71058	GTC		0.582	TMEM9-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000087160.1	NM_016456		T	201123024	C	T	201123024	3	4	675	1	0	0	0	0	1	0	0	0	16222	507	18	2	543	2	TMEM9	1	201123024	Missense_Mutation	SNP	C	TCGA-HE-A5NJ-01A-11D-A26P-10	47014623	201123024	48127597	6	37151											
GPN1	11321	hgsc.bcm.edu	37	2	27858007	27858007	+	Splice_Site	SNP	G	G	A			TCGA-HE-A5NJ-01A-11D-A26P-10	TCGA-HE-A5NJ-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9dbd55c-5dcc-48db-8785-6baef3fdd7db	de0653ad-a848-4f4b-b675-6cb625cb5167	g.chr2:27858007G>A	ENST00000610189.1	+	7	437	c.430G>A	c.(430-432)Gca>Aca	p.A144T	RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000556601.1_3'UTR|GPN1_ENST00000264718.3_Splice_Site_p.A158T|GPN1_ENST00000458167.2_Splice_Site_p.A49T|GPN1_ENST00000461249.1_3'UTR|GPN1_ENST00000503738.1_Splice_Site_p.A49T|GPN1_ENST00000407583.3_Splice_Site_p.A132T|GPN1_ENST00000515877.1_Splice_Site_p.A65T|GPN1_ENST00000424214.1_Splice_Site_p.A65T	NM_007266.3	NP_009197.2			GPN-loop GTPase 1											endometrium(1)|large_intestine(1)|lung(12)	14						GTGGCTTTAGGCATCCTCATT	0.443																																																0													209	190	196					2																	27858007		2203	4300	6503	SO:0001630	splice_region_variant	11321			AB044661	CCDS1760.2, CCDS46248.1, CCDS46249.1, CCDS46250.1	2p23.3	2011-11-04	2008-04-30	2008-04-30	ENSG00000198522	ENSG00000198522		"GPN-loop GTPases"	17030	protein-coding gene	gene with protein product	"RNA polymerase II associated protein 4"	611479	"XPA binding protein 1", "XPA binding protein 1, GTPase"	XAB1		11058119, 11124703	Standard	NM_007266		Approved	NTPBP, MBDIN, ATPBD1A, RPAP4	uc010ymc.2	Q9HCN4	OTTHUMG00000097784	ENST00000610189.1:c.430-1G>A	chr2.hg19:g.27858007G>A				Missense_Mutation	SNP	ENST00000610189.1	hg19		.	.	.	.	.	.	.	.	.	.	G	36	5.660616	0.96734	.	.	ENSG00000198522	ENST00000515877;ENST00000503738;ENST00000458167;ENST00000424214;ENST00000407583;ENST00000264718	T;T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9;1.9	5.96	5.96	0.96718	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.53449	0.1797	M	0.77616	2.38	0.80722	D	1	P;D;D;D	0.89917	0.792;1.0;0.98;0.992	P;D;P;D	0.81914	0.9;0.995;0.876;0.92	T	0.50039	-0.8874	9	.	.	.	-8.5718	17.1122	0.86679	0.0:0.0:1.0:0.0	.	144;158;49;132	Q9HCN4;B4DQM4;B4DXU4;B5MBZ5	GPN1_HUMAN;.;.;.	T	65;49;49;65;132;158	ENSP00000424678:A65T;ENSP00000427269:A49T;ENSP00000412170:A49T;ENSP00000398115:A65T;ENSP00000384255:A132T;ENSP00000264718:A158T	.	A	+	1	0	GPN1	27711511	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	8.896000	0.92521	2.820000	0.97059	0.655000	0.94253	GCA		0.443	GPN1-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000473126.1	NM_007266	Missense_Mutation	A	27858007	G	A	27858007	5	1	675	1	0	0	0	0	0	0	1	0	6619	1217	42	2	581	2	GPN1	2	27858007	Splice_Site	SNP	G	TCGA-HE-A5NJ-01A-11D-A26P-10		27858007	215341366	7	37152											
ALMS1	7840	hgsc.bcm.edu	37	2	73836707	73836707	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HE-A5NJ-01A-11D-A26P-10	TCGA-HE-A5NJ-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9dbd55c-5dcc-48db-8785-6baef3fdd7db	de0653ad-a848-4f4b-b675-6cb625cb5167	g.chr2:73836707C>T	ENST00000264448.6	+	23	12583	c.12472C>T	c.(12472-12474)Caa>Taa	p.Q4158*	ALMS1_ENST00000409009.1_Nonsense_Mutation_p.Q4116*	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	4158	ALMS motif.				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						AGTGACCAATCAACTTCTGGG	0.433																																																0													117	116	116					2																	73836707		1850	4083	5933	SO:0001587	stop_gained	7840			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.12472C>T	chr2.hg19:g.73836707C>T	ENSP00000264448:p.Gln4158*		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Nonsense_Mutation	SNP	ENST00000264448.6	hg19	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	C	53	21.012144	0.99936	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	.	.	.	5.34	5.34	0.76211	.	0.658065	0.14442	N	0.319301	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	14.4071	0.67090	0.0:1.0:0.0:0.0	.	.	.	.	X	4116;4158	.	ENSP00000264448:Q4158X	Q	+	1	0	ALMS1	73690215	0.984000	0.35163	0.996000	0.52242	0.780000	0.44128	2.387000	0.44389	2.779000	0.95612	0.591000	0.81541	CAA		0.433	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		T	73836707	C	T	73836707	4	4	675	1	0	0	0	0	0	1	0	0	535	827	29	2	12562	2	ALMS1	2	73836707	Nonsense_Mutation	SNP	C	TCGA-HE-A5NJ-01A-11D-A26P-10	45978700	73836707	169362666	8	37153											
ACVR2A	92	hgsc.bcm.edu	37	2	148676153	148676153	+	Missense_Mutation	SNP	A	A	G			TCGA-HE-A5NJ-01A-11D-A26P-10	TCGA-HE-A5NJ-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9dbd55c-5dcc-48db-8785-6baef3fdd7db	de0653ad-a848-4f4b-b675-6cb625cb5167	g.chr2:148676153A>G	ENST00000241416.7	+	7	1590	c.954A>G	c.(952-954)atA>atG	p.I318M	ACVR2A_ENST00000535787.1_Missense_Mutation_p.I210M|ACVR2A_ENST00000404590.1_Missense_Mutation_p.I318M	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	318	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|gastrulation with mouth forming second (GO:0001702)|mesoderm development (GO:0007498)|penile erection (GO:0043084)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|regulation of BMP signaling pathway (GO:0030510)|regulation of nitric-oxide synthase activity (GO:0050999)|Sertoli cell proliferation (GO:0060011)|sperm ejaculation (GO:0042713)|spermatogenesis (GO:0007283)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|coreceptor activity (GO:0015026)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		AACCTGCCATATCTCACAGGT	0.348																																																0													42	44	43					2																	148676153		2202	4300	6502	SO:0001583	missense	92				CCDS33301.1, CCDS63030.1	2q22.2-q23.3	2008-02-05	2005-05-10	2005-05-10	ENSG00000121989	ENSG00000121989			173	protein-coding gene	gene with protein product		102581	"activin A receptor, type II"	ACVR2		1314589, 10702675	Standard	NM_001278579		Approved	ACTRII	uc002twh.3	P27037	OTTHUMG00000150603	ENST00000241416.7:c.954A>G	chr2.hg19:g.148676153A>G	ENSP00000241416:p.Ile318Met		B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Missense_Mutation	SNP	ENST00000241416.7	hg19	CCDS33301.1	.	.	.	.	.	.	.	.	.	.	A	17.99	3.524183	0.64747	.	.	ENSG00000121989	ENST00000241416;ENST00000535787;ENST00000404590	T;T;T	0.73789	-0.78;-0.78;-0.78	5.63	0.102	0.14522	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.050216	0.85682	D	0.000000	D	0.84465	0.5478	M	0.86178	2.8	0.54753	D	0.999987	P	0.42827	0.791	P	0.56514	0.8	D	0.85693	0.1308	10	0.59425	D	0.04	.	15.9363	0.79712	0.3896:0.6104:0.0:0.0	.	318	P27037	AVR2A_HUMAN	M	318;210;318	ENSP00000241416:I318M;ENSP00000439988:I210M;ENSP00000384338:I318M	ENSP00000241416:I318M	I	+	3	3	ACVR2A	148392623	0.981000	0.34729	0.995000	0.50966	0.986000	0.74619	0.307000	0.19296	-0.207000	0.10187	0.460000	0.39030	ATA		0.348	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319051.1	NM_001616		G	148676153	A	G	148676153	3	3	675	1	0	0	0	0	1	0	0	0	223	439	16	3	980	3	ACVR2A	2	148676153	Missense_Mutation	SNP	A	TCGA-HE-A5NJ-01A-11D-A26P-10	74839446	148676153	94523220	9	37154											
SH3BP4	23677	hgsc.bcm.edu	37	2	235949726	235949726	+	Missense_Mutation	SNP	C	C	G			TCGA-HE-A5NJ-01A-11D-A26P-10	TCGA-HE-A5NJ-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9dbd55c-5dcc-48db-8785-6baef3fdd7db	de0653ad-a848-4f4b-b675-6cb625cb5167	g.chr2:235949726C>G	ENST00000409212.1	+	4	820	c.313C>G	c.(313-315)Ccc>Gcc	p.P105A	SH3BP4_ENST00000392011.2_Missense_Mutation_p.P105A|SH3BP4_ENST00000344528.4_Missense_Mutation_p.P105A			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	105	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		GGGCTACATCCCCTCCTCCTA	0.537																																																0													171	144	153					2																	235949726		2203	4300	6503	SO:0001583	missense	23677			AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.313C>G	chr2.hg19:g.235949726C>G	ENSP00000386862:p.Pro105Ala		O95082|Q309A3|Q53QD0|Q53TD1	Missense_Mutation	SNP	ENST00000409212.1	hg19	CCDS2513.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.895268	0.91962	.	.	ENSG00000130147	ENST00000392011;ENST00000420127;ENST00000416021;ENST00000409212;ENST00000344528;ENST00000446904	D;D;D;D;D	0.99454	-5.92;-5.92;-5.92;-5.92;-5.92	5.24	5.24	0.73138	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	D	0.99635	0.9866	M	0.93062	3.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97817	1.0254	10	0.72032	D	0.01	-9.9278	17.3901	0.87427	0.0:1.0:0.0:0.0	.	105;105	A8K594;Q9P0V3	.;SH3B4_HUMAN	A	105	ENSP00000375867:P105A;ENSP00000403251:P105A;ENSP00000386862:P105A;ENSP00000340237:P105A;ENSP00000415391:P105A	ENSP00000340237:P105A	P	+	1	0	SH3BP4	235614465	1.000000	0.71417	0.996000	0.52242	0.940000	0.58332	7.571000	0.82399	2.442000	0.82660	0.655000	0.94253	CCC		0.537	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1			G	235949726	C	G	235949726	3	3	675	1	0	0	0	0	1	0	0	0	14252	623	22	4	319	4	SH3BP4	2	235949726	Missense_Mutation	SNP	C	TCGA-HE-A5NJ-01A-11D-A26P-10	87273573	235949726	7249647	10	37155											
ITPR1	3708	hgsc.bcm.edu	37	3	4859771	4859771	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NJ-01A-11D-A26P-10	TCGA-HE-A5NJ-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9dbd55c-5dcc-48db-8785-6baef3fdd7db	de0653ad-a848-4f4b-b675-6cb625cb5167	g.chr3:4859771G>A	ENST00000443694.2	+	57	7828	c.7828G>A	c.(7828-7830)Gaa>Aaa	p.E2610K	AC018816.3_ENST00000489771.1_Intron|ITPR1_ENST00000544951.1_Missense_Mutation_p.E588K|AC018816.3_ENST00000441894.1_Intron|ITPR1_ENST00000302640.8_Missense_Mutation_p.E2610K|ITPR1_ENST00000357086.4_Missense_Mutation_p.E2577K|ITPR1_ENST00000456211.2_Missense_Mutation_p.E2562K|ITPR1_ENST00000463980.1_3'UTR|AC018816.3_ENST00000449914.1_Intron|ITPR1_ENST00000423119.2_Missense_Mutation_p.E2577K|ITPR1_ENST00000354582.6_Missense_Mutation_p.E2610K			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2625					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)	TTTAGGCTTGGAAAGAGACAA	0.448																																																0													52	48	49					3																	4859771		1897	4121	6018	SO:0001583	missense	3708			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"Ion channels / Inositol triphosphate receptors"	6180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 94"	147265	"spinocerebellar ataxia 15", "spinocerebellar ataxia 16", "spinocerebellar ataxia 29"	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.7828G>A	chr3.hg19:g.4859771G>A	ENSP00000401671:p.Glu2610Lys		E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	hg19	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	g	32	5.120856	0.94385	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000544951;ENST00000443694	T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.58581	0.2132	L	0.57536	1.79	0.80722	D	1	D;B;B	0.62365	0.991;0.102;0.226	P;B;B	0.61201	0.885;0.07;0.425	T	0.56147	-0.8027	10	0.35671	T	0.21	.	18.3362	0.90288	0.0:0.0:1.0:0.0	.	588;2625;2577	B7ZMI3;Q14643;G5E9P1	.;ITPR1_HUMAN;.	K	2625;2610;2610;2577;1071;2577;2562;588;2610	ENSP00000306253:E2610K;ENSP00000346595:E2610K;ENSP00000405934:E2577K;ENSP00000349597:E2577K;ENSP00000397885:E2562K;ENSP00000440564:E588K;ENSP00000401671:E2610K	ENSP00000306253:E2610K	E	+	1	0	ITPR1	4834771	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	9.709000	0.98729	2.311000	0.77944	0.461000	0.40582	GAA		0.448	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		A	4859771	G	A	4859771	3	1	675	1	0	0	0	0	1	0	0	0	7922	1175	41	2	8103	2	ITPR1	3	4859771	Missense_Mutation	SNP	G	TCGA-HE-A5NJ-01A-11D-A26P-10		4859771	193162659	11	37156											
THUMPD3	25917	hgsc.bcm.edu	37	3	9406849	9406849	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NJ-01A-11D-A26P-10	TCGA-HE-A5NJ-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9dbd55c-5dcc-48db-8785-6baef3fdd7db	de0653ad-a848-4f4b-b675-6cb625cb5167	g.chr3:9406849G>A	ENST00000345094.3	+	2	431	c.97G>A	c.(97-99)Gaa>Aaa	p.E33K	RP11-380O24.1_ENST00000517687.1_RNA|SETD5-AS1_ENST00000468186.1_RNA|THUMPD3_ENST00000452837.2_Missense_Mutation_p.E33K|RP11-380O24.1_ENST00000466431.2_RNA|THUMPD3_ENST00000515662.2_Missense_Mutation_p.E33K|RP11-380O24.1_ENST00000491930.2_RNA|RP11-380O24.1_ENST00000517846.1_RNA|RP11-380O24.1_ENST00000518331.1_RNA	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN	THUMP domain containing 3	33						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)		CCTCGGAAGTGAATCTGAGCT	0.443																																																0													94	95	94					3																	9406849		2203	4300	6503	SO:0001583	missense	25917			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.97G>A	chr3.hg19:g.9406849G>A	ENSP00000339532:p.Glu33Lys		Q9H8V6|Q9NVC1|Q9UFS3	Missense_Mutation	SNP	ENST00000345094.3	hg19	CCDS2573.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.044109	0.75732	.	.	ENSG00000134077	ENST00000452837;ENST00000417036;ENST00000419437;ENST00000345094;ENST00000515662	T;T;T	0.44083	0.93;0.93;0.93	5.57	4.47	0.54385	.	0.949351	0.08920	N	0.874534	T	0.35595	0.0937	L	0.51422	1.61	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.11494	-1.0585	10	0.40728	T	0.16	.	5.2477	0.15506	0.1312:0.2026:0.6662:0.0	.	33	Q9BV44	THUM3_HUMAN	K	33	ENSP00000395893:E33K;ENSP00000339532:E33K;ENSP00000424064:E33K	ENSP00000339532:E33K	E	+	1	0	THUMPD3	9381849	0.049000	0.20398	0.085000	0.20634	0.888000	0.51559	2.198000	0.42705	2.785000	0.95823	0.655000	0.94253	GAA		0.443	THUMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214127.1	NM_015453		A	9406849	G	A	9406849	3	1	675	1	0	0	0	0	1	0	0	0	15889	1291	45	2	99	2	THUMPD3	3	9406849	Missense_Mutation	SNP	G	TCGA-HE-A5NJ-01A-11D-A26P-10	4547078	9406849	188615581	12	37157											
COL7A1	1294	hgsc.bcm.edu	37	3	48610131	48610131	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HE-A5NJ-01A-11D-A26P-10	TCGA-HE-A5NJ-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9dbd55c-5dcc-48db-8785-6baef3fdd7db	de0653ad-a848-4f4b-b675-6cb625cb5167	g.chr3:48610131delT	ENST00000328333.8	-	87	6980	c.6873delA	c.(6871-6873)gaafs	p.E2291fs	COL7A1_ENST00000454817.1_Frame_Shift_Del_p.E2259fs	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2291	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)		TGGGGCCAGGTTCTCCTTTAG	0.632																																																0													24	30	28					3																	48610131		2200	4297	6497	SO:0001589	frameshift_variant	1294			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"Collagens", "Fibronectin type III domain containing"	2214	protein-coding gene	gene with protein product	"collagen VII, alpha-1 polypeptide", "LC collagen"	120120	"epidermolysis bullosa, dystrophic, dominant and recessive"	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.6873delA	chr3.hg19:g.48610131delT	ENSP00000332371:p.Glu2291fs		Q14054|Q16507	Frame_Shift_Del	DEL	ENST00000328333.8	hg19	CCDS2773.1																																																																																				0.632	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		-	48610131	T	-	48610131	7	5	675	1	0	1	0	1	0	0	0	0	3706	1722	60	0	2089	0	COL7A1	3	48610131	Frame_Shift_Del	DEL	T	TCGA-HE-A5NJ-01A-11D-A26P-10	39203282	48610131	149412299	13	37158											
IL17RD	54756	hgsc.bcm.edu	37	3	57144293	57144293	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HE-A5NJ-01A-11D-A26P-10	TCGA-HE-A5NJ-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9dbd55c-5dcc-48db-8785-6baef3fdd7db	de0653ad-a848-4f4b-b675-6cb625cb5167	g.chr3:57144293delC	ENST00000296318.7	-	4	445	c.357delG	c.(355-357)aagfs	p.K119fs	IL17RD_ENST00000320057.5_5'UTR|IL17RD_ENST00000463523.1_5'UTR|IL17RD_ENST00000427856.2_Frame_Shift_Del_p.K95fs	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	119					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)		TTCCCTCCGACTTCAGCTCCT	0.438																																																0													121	109	113					3																	57144293		1911	4137	6048	SO:0001589	frameshift_variant	54756			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.357delG	chr3.hg19:g.57144293delC	ENSP00000296318:p.Lys119fs		Q2NKP7|Q58EZ7|Q6RVF4|Q6UWI5|Q8N113|Q8NFS0|Q9UFA0	Frame_Shift_Del	DEL	ENST00000296318.7	hg19	CCDS2880.2																																																																																				0.438	IL17RD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316680.1	NM_017563		-	57144293	C	-	57144293	7	5	675	1	0	1	0	1	0	0	0	0	7644	564	20	0	1902	0	IL17RD	3	57144293	Frame_Shift_Del	DEL	C	TCGA-HE-A5NJ-01A-11D-A26P-10	8534162	57144293	140878137	14	37159											
IGSF10	285313	hgsc.bcm.edu	37	3	151155196	151155196	+	Missense_Mutation	SNP	T	T	G			TCGA-HE-A5NJ-01A-11D-A26P-10	TCGA-HE-A5NJ-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9dbd55c-5dcc-48db-8785-6baef3fdd7db	de0653ad-a848-4f4b-b675-6cb625cb5167	g.chr3:151155196T>G	ENST00000282466.3	-	6	7152	c.7153A>C	c.(7153-7155)Agt>Cgt	p.S2385R	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2385	Ig-like C2-type 10.				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)			TACTGATAACTTTGTGGTCCA	0.408																																																0													125	125	125					3																	151155196		2203	4300	6503	SO:0001583	missense	285313			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"Immunoglobulin superfamily / I-set domain containing"	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.7153A>C	chr3.hg19:g.151155196T>G	ENSP00000282466:p.Ser2385Arg		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	hg19	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	T	4.176	0.031261	0.08101	.	.	ENSG00000152580	ENST00000282466	T	0.63580	-0.05	5.59	0.331	0.15933	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.945401	0.08716	N	0.904233	T	0.42607	0.1210	L	0.28115	0.83	0.09310	N	1	P;B	0.41080	0.737;0.141	B;B	0.36845	0.234;0.066	T	0.18681	-1.0329	10	0.22706	T	0.39	.	6.415	0.21712	0.0:0.1304:0.2469:0.6227	.	2385;412	Q6WRI0;Q6WRI0-2	IGS10_HUMAN;.	R	2385	ENSP00000282466:S2385R	ENSP00000282466:S2385R	S	-	1	0	IGSF10	152637886	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	1.061000	0.30542	-0.160000	0.11002	-0.316000	0.08728	AGT		0.408	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		G	151155196	T	G	151155196	3	3	675	1	0	0	0	0	1	0	0	0	7599	1609	56	5	722	5	IGSF10	3	151155196	Missense_Mutation	SNP	T	TCGA-HE-A5NJ-01A-11D-A26P-10	94010903	151155196	46867234	15	37160											
ENPEP	2028	hgsc.bcm.edu	37	4	111397929	111397929	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NJ-01A-11D-A26P-10	TCGA-HE-A5NJ-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9dbd55c-5dcc-48db-8785-6baef3fdd7db	de0653ad-a848-4f4b-b675-6cb625cb5167	g.chr4:111397929G>A	ENST00000265162.5	+	1	701	c.359G>A	c.(358-360)aGc>aAc	p.S120N		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	120					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)		GGCACCGTGAGCATCTCCATC	0.627																																																0													96	100	99					4																	111397929		2203	4300	6503	SO:0001583	missense	2028			L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"CD molecules"	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.359G>A	chr4.hg19:g.111397929G>A	ENSP00000265162:p.Ser120Asn		Q504U2	Missense_Mutation	SNP	ENST00000265162.5	hg19	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	G	4.521	0.096620	0.08681	.	.	ENSG00000138792	ENST00000265162	T	0.02709	4.19	5.83	-6.19	0.02078	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	1.193580	0.05705	N	0.594848	T	0.02342	0.0072	N	0.12443	0.215	0.20489	N	0.999897	B	0.09022	0.002	B	0.14023	0.01	T	0.41270	-0.9518	10	0.17832	T	0.49	.	18.7095	0.91651	0.2671:0.1216:0.6113:0.0	.	120	Q07075	AMPE_HUMAN	N	120	ENSP00000265162:S120N	ENSP00000265162:S120N	S	+	2	0	ENPEP	111617378	0.004000	0.15560	0.072000	0.20136	0.026000	0.11368	-0.722000	0.04958	-1.974000	0.00998	-0.305000	0.09177	AGC		0.627	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			A	111397929	G	A	111397929	3	1	675	1	0	0	0	0	1	0	0	0	5130	971	34	2	361	2	ENPEP	4	111397929	Missense_Mutation	SNP	G	TCGA-HE-A5NJ-01A-11D-A26P-10		111397929	79756347	16	37161											
CCT5	22948	hgsc.bcm.edu	37	5	10263419	10263419	+	Silent	SNP	G	G	A			TCGA-HE-A5NJ-01A-11D-A26P-10	TCGA-HE-A5NJ-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9dbd55c-5dcc-48db-8785-6baef3fdd7db	de0653ad-a848-4f4b-b675-6cb625cb5167	g.chr5:10263419G>A	ENST00000280326.4	+	10	1911	c.1491G>A	c.(1489-1491)ggG>ggA	p.G497G	CCT5_ENST00000515676.1_Silent_p.G459G|CCT5_ENST00000503026.1_Silent_p.G476G|CTD-2256P15.4_ENST00000606194.1_RNA|CCT5_ENST00000506600.1_Silent_p.G404G|CCT5_ENST00000515390.1_Silent_p.G442G	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	497					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|response to virus (GO:0009615)	cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleolus (GO:0005730)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|G-protein beta-subunit binding (GO:0031681)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						TGCACAAGGGGACAAATGGTG	0.512																																																0													59	55	56					5																	10263419		2203	4300	6503	SO:0001819	synonymous_variant	22948			D43950	CCDS3877.1	5p15.2	2014-09-17			ENSG00000150753	ENSG00000150753		"Heat Shock Proteins / Chaperonins"	1618	protein-coding gene	gene with protein product		610150					Standard	NM_012073		Approved	KIAA0098	uc003jeq.3	P48643	OTTHUMG00000131042	ENST00000280326.4:c.1491G>A	chr5.hg19:g.10263419G>A			A8JZY8|A8K2X8|B4DYD8	Silent	SNP	ENST00000280326.4	hg19	CCDS3877.1																																																																																				0.512	CCT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253688.2			A	10263419	G	A	10263419	2	1	675	1	0	0	0	0	0	0	0	1	2958	1161	41	2		2	CCT5	5	10263419	Silent	SNP	G	TCGA-HE-A5NJ-01A-11D-A26P-10		10263419	170651841	17	37162											
ZNF366	167465	hgsc.bcm.edu	37	5	71739709	71739709	+	Silent	SNP	C	C	T			TCGA-HE-A5NJ-01A-11D-A26P-10	TCGA-HE-A5NJ-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9dbd55c-5dcc-48db-8785-6baef3fdd7db	de0653ad-a848-4f4b-b675-6cb625cb5167	g.chr5:71739709C>T	ENST00000318442.5	-	5	2599	c.2109G>A	c.(2107-2109)agG>agA	p.R703R	RP11-389C8.2_ENST00000564956.1_RNA	NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	703	Interaction with CTBP1.|Interaction with NRIP1.				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)		TCTGAAAAGCCCTGAGACTGA	0.517																																																0													102	107	105					5																	71739709		2203	4300	6503	SO:0001819	synonymous_variant	167465			AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"Zinc fingers, C2H2-type"	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.2109G>A	chr5.hg19:g.71739709C>T			Q5HYI9|Q7RTV4	Silent	SNP	ENST00000318442.5	hg19	CCDS4015.1																																																																																				0.517	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218574.3			T	71739709	C	T	71739709	2	4	675	1	0	0	0	0	0	0	0	1	17875	622	22	2		2	ZNF366	5	71739709	Silent	SNP	C	TCGA-HE-A5NJ-01A-11D-A26P-10	61476290	71739709	109175551	18	37163											
SLC12A2	6558	hgsc.bcm.edu	37	5	127477532	127477532	+	Silent	SNP	T	T	A			TCGA-HE-A5NJ-01A-11D-A26P-10	TCGA-HE-A5NJ-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9dbd55c-5dcc-48db-8785-6baef3fdd7db	de0653ad-a848-4f4b-b675-6cb625cb5167	g.chr5:127477532T>A	ENST00000262461.2	+	10	1821	c.1632T>A	c.(1630-1632)gtT>gtA	p.V544V	SLC12A2_ENST00000343225.4_Silent_p.V544V	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	544					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)	GTTCTTGTGTTGTTCGAGATG	0.308																																																0													171	162	165					5																	127477532		2203	4300	6503	SO:0001819	synonymous_variant	6558				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.1632T>A	chr5.hg19:g.127477532T>A			Q8N713|Q8WWH7	Silent	SNP	ENST00000262461.2	hg19	CCDS4144.1																																																																																				0.308	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	NM_001046		A	127477532	T	A	127477532	2	1	675	1	0	0	0	0	0	0	0	1	14389	1799	63	5		5	SLC12A2	5	127477532	Silent	SNP	T	TCGA-HE-A5NJ-01A-11D-A26P-10	55737823	127477532	53437728	19	37164											
SLC26A2	1836	hgsc.bcm.edu	37	5	149361289	149361289	+	Silent	SNP	T	T	C			TCGA-HE-A5NJ-01A-11D-A26P-10	TCGA-HE-A5NJ-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9dbd55c-5dcc-48db-8785-6baef3fdd7db	de0653ad-a848-4f4b-b675-6cb625cb5167	g.chr5:149361289T>C	ENST00000286298.4	+	3	2401	c.2133T>C	c.(2131-2133)agT>agC	p.S711S		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	711	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				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)			TCTTCTATAGTGTGTATGAAG	0.413																																																0													57	63	61					5																	149361289		2203	4299	6502	SO:0001819	synonymous_variant	1836			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.2133T>C	chr5.hg19:g.149361289T>C			A8K2U3|B2R6J1|Q6N051	Silent	SNP	ENST00000286298.4	hg19	CCDS4300.1																																																																																				0.413	SLC26A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252333.2	NM_000112		C	149361289	T	C	149361289	2	2	675	1	0	0	0	0	0	0	0	1	14523	1693	59	3		3	SLC26A2	5	149361289	Silent	SNP	T	TCGA-HE-A5NJ-01A-11D-A26P-10	21883757	149361289	31553971	20	37165											
C6orf108	23113	hgsc.bcm.edu	37	6	43193768	43193768	+	IGR	SNP	C	C	A			TCGA-HE-A5NJ-01A-11D-A26P-10	TCGA-HE-A5NJ-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9dbd55c-5dcc-48db-8785-6baef3fdd7db	de0653ad-a848-4f4b-b675-6cb625cb5167	g.chr6:43193768C>A	ENST00000252050.4	+	0	7780				DNPH1_ENST00000230431.6_Intron|DNPH1_ENST00000393987.2_Nonsense_Mutation_p.E127*|RP3-330M21.5_ENST00000500590.1_RNA	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9						microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TTGGGGTGCTCACCGCGGCCA	0.647																																																0													27	26	26					6																	43193768		2203	4298	6501	SO:0001628	intergenic_variant	10591			AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"parkin-like cytoplasmic p53 binding protein", "p53-associated parkin-like cytoplasmic protein"	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723		chr6.hg19:g.43193768C>A			O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Nonsense_Mutation	SNP	ENST00000252050.4	hg19	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	C	11.10	1.539836	0.27563	.	.	ENSG00000112667	ENST00000393987	.	.	.	4.24	2.38	0.29361	.	.	.	.	.	.	.	.	.	.	.	0.53688	D	0.999974	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	6.7563	0.23516	0.0:0.7731:0.0:0.2269	.	.	.	.	X	127	.	ENSP00000377556:E127X	E	-	1	0	C6orf108	43301746	0.036000	0.19791	0.992000	0.48379	0.353000	0.29299	0.002000	0.13061	0.989000	0.38761	0.462000	0.41574	GAG		0.647	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		A	43193768	C	A	43193768	1	1	675	0	1	0	0	0	0	0	0	0	2322	835	29	4		4	C6orf108	6	43193768	IGR	SNP	C	TCGA-HE-A5NJ-01A-11D-A26P-10		43193768	127921299	21	37166											
IGF2R	3482	hgsc.bcm.edu	37	6	160467594	160467594	+	Missense_Mutation	SNP	G	G	C			TCGA-HE-A5NJ-01A-11D-A26P-10	TCGA-HE-A5NJ-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9dbd55c-5dcc-48db-8785-6baef3fdd7db	de0653ad-a848-4f4b-b675-6cb625cb5167	g.chr6:160467594G>C	ENST00000356956.1	+	15	2116	c.1968G>C	c.(1966-1968)aaG>aaC	p.K656N		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	656					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	AGACAAAGAAGTATGACTTTT	0.413																																																0													81	88	86					6																	160467594		2203	4300	6503	SO:0001583	missense	3482			J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"CD molecules"	5467	protein-coding gene	gene with protein product	"cation-independent mannose-6 phosphate receptor"	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.1968G>C	chr6.hg19:g.160467594G>C	ENSP00000349437:p.Lys656Asn		Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	hg19	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	G	10.21	1.287371	0.23478	.	.	ENSG00000197081	ENST00000356956	T	0.11277	2.79	5.07	3.25	0.37280	Mannose-6-phosphate receptor, binding (1);	0.269818	0.41500	D	0.000876	T	0.04770	0.0129	L	0.58354	1.805	0.45995	D	0.998804	P	0.45396	0.857	P	0.45377	0.478	T	0.37798	-0.9690	10	0.19147	T	0.46	-5.8683	3.1762	0.06569	0.2087:0.1255:0.5372:0.1286	.	656	P11717	MPRI_HUMAN	N	656	ENSP00000349437:K656N	ENSP00000349437:K656N	K	+	3	2	IGF2R	160387584	0.158000	0.22850	0.965000	0.40720	0.840000	0.47671	-0.185000	0.09684	1.262000	0.44165	0.655000	0.94253	AAG		0.413	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		C	160467594	G	C	160467594	3	2	675	1	0	0	0	0	1	0	0	0	7578	1020	36	4	2026	4	IGF2R	6	160467594	Missense_Mutation	SNP	G	TCGA-HE-A5NJ-01A-11D-A26P-10	117273826	160467594	10647473	22	37167											
ISPD	729920	hgsc.bcm.edu	37	7	16255771	16255771	+	Missense_Mutation	SNP	G	G	C			TCGA-HE-A5NJ-01A-11D-A26P-10	TCGA-HE-A5NJ-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9dbd55c-5dcc-48db-8785-6baef3fdd7db	de0653ad-a848-4f4b-b675-6cb625cb5167	g.chr7:16255771G>C	ENST00000407010.2	-	9	1170	c.1171C>G	c.(1171-1173)Cta>Gta	p.L391V	ISPD-AS1_ENST00000579293.1_RNA|ISPD-AS1_ENST00000582683.1_RNA|ISPD_ENST00000399310.3_Missense_Mutation_p.L341V|ISPD-AS1_ENST00000438573.1_RNA|ISPD-AS1_ENST00000457112.1_RNA	NM_001101426.3	NP_001094896.1	A4D126	ISPD_HUMAN	isoprenoid synthase domain containing	391					axon guidance (GO:0007411)|isoprenoid biosynthetic process (GO:0008299)|protein O-linked mannosylation (GO:0035269)		nucleotidyltransferase activity (GO:0016779)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9						ATCTGCATTAGGTTTTCCATT	0.303										Multiple Myeloma(15;0.18)																																						0													64	60	61					7																	16255771		1786	4057	5843	SO:0001583	missense	729920			AK124805		7p21.2	2010-03-19			ENSG00000214960	ENSG00000214960			37276	protein-coding gene	gene with protein product	"notch1-induced protein", "4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolog (Arabidopsis)"	614631				11181995	Standard	NM_001101417		Approved	hCG_1745121, IspD, Nip	uc010ktx.2	A4D126	OTTHUMG00000152447	ENST00000407010.2:c.1171C>G	chr7.hg19:g.16255771G>C	ENSP00000385478:p.Leu391Val		A8MU35|H9KVB2	Missense_Mutation	SNP	ENST00000407010.2	hg19		.	.	.	.	.	.	.	.	.	.	G	5.747	0.322274	0.10900	.	.	ENSG00000214960	ENST00000407010;ENST00000399310	D;D	0.87729	-2.23;-2.29	5.22	3.4	0.38934	.	.	.	.	.	T	0.77711	0.4171	N	0.24115	0.695	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.65857	-0.6066	9	0.48119	T	0.1	-18.4993	7.3675	0.26781	0.0916:0.1697:0.7388:0.0	.	391	A4D126	ISPD_HUMAN	V	391;341	ENSP00000385478:L391V;ENSP00000382249:L341V	ENSP00000382249:L341V	L	-	1	2	ISPD	16222296	0.250000	0.23951	0.038000	0.18304	0.431000	0.31685	0.794000	0.26958	0.685000	0.31468	0.591000	0.81541	CTA		0.303	ISPD-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000326252.4	NM_001101426		C	16255771	G	C	16255771	3	2	675	1	0	0	0	0	1	0	0	0	7866	991	35	4	192	4	ISPD	7	16255771	Missense_Mutation	SNP	G	TCGA-HE-A5NJ-01A-11D-A26P-10		16255771	142882892	23	37168											
HIP1	3092	hgsc.bcm.edu	37	7	75183809	75183809	+	Silent	SNP	C	C	T			TCGA-HE-A5NJ-01A-11D-A26P-10	TCGA-HE-A5NJ-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9dbd55c-5dcc-48db-8785-6baef3fdd7db	de0653ad-a848-4f4b-b675-6cb625cb5167	g.chr7:75183809C>T	ENST00000336926.6	-	20	2006	c.1980G>A	c.(1978-1980)acG>acA	p.T660T	HIP1_ENST00000434438.2_Silent_p.T660T	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	660					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						TGGATGTGACCGTGGAGAGGA	0.527			T	PDGFRB	CMML																																		Dom	yes		7	7q11.23	3092	huntingtin interacting protein 1		L	0													98	90	92					7																	75183809		2203	4300	6503	SO:0001819	synonymous_variant	3092			AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.1980G>A	chr7.hg19:g.75183809C>T			B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Silent	SNP	ENST00000336926.6	hg19	CCDS34669.1																																																																																				0.527	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	NM_005338		T	75183809	C	T	75183809	2	4	675	1	0	0	0	0	0	0	0	1	7116	639	23	1		1	HIP1	7	75183809	Silent	SNP	C	TCGA-HE-A5NJ-01A-11D-A26P-10	58928038	75183809	83954854	24	37169											
PAXIP1	22976	hgsc.bcm.edu	37	7	154767474	154767474	+	Missense_Mutation	SNP	G	G	A	rs540417697		TCGA-HE-A5NJ-01A-11D-A26P-10	TCGA-HE-A5NJ-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9dbd55c-5dcc-48db-8785-6baef3fdd7db	de0653ad-a848-4f4b-b675-6cb625cb5167	g.chr7:154767474G>A	ENST00000404141.1	-	6	1160	c.1006C>T	c.(1006-1008)Cgg>Tgg	p.R336W	PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Missense_Mutation_p.R336W			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	336					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)		CTCAGTGTCCGTACAGCTGGA	0.433																																																0													45	44	44					7																	154767474		1947	4167	6114	SO:0001583	missense	22976			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.1006C>T	chr7.hg19:g.154767474G>A	ENSP00000384048:p.Arg336Trp		O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	Missense_Mutation	SNP	ENST00000404141.1	hg19	CCDS47753.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.486598	0.63962	.	.	ENSG00000157212	ENST00000404141;ENST00000397192;ENST00000357094;ENST00000323199	T;T	0.48836	0.8;0.8	5.04	4.16	0.48862	.	0.000000	0.50627	U	0.000119	T	0.63141	0.2486	M	0.68952	2.095	0.40826	D	0.983548	B;D;B;D	0.89917	0.225;1.0;0.333;1.0	B;D;B;D	0.91635	0.028;0.999;0.061;0.998	T	0.66040	-0.6022	10	0.72032	D	0.01	-63.4587	8.8578	0.35238	0.0761:0.0:0.7761:0.1478	.	289;245;302;336	B4DEQ6;Q6ZW49-3;Q6ZW49-1;Q6ZW49	.;.;.;PAXI1_HUMAN	W	336;336;284;289	ENSP00000384048:R336W;ENSP00000380376:R336W	ENSP00000319149:R289W	R	-	1	2	PAXIP1	154398407	1.000000	0.71417	0.985000	0.45067	0.878000	0.50629	3.274000	0.51631	1.250000	0.43966	0.305000	0.20034	CGG		0.433	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322223.1	NM_007349		A	154767474	G	A	154767474	3	1	675	1	0	0	0	0	1	0	0	0	11489	1144	40	1	2267	1	PAXIP1	7	154767474	Missense_Mutation	SNP	G	TCGA-HE-A5NJ-01A-11D-A26P-10	79583665	154767474	4371189	25	37170											
SGK223	157285	hgsc.bcm.edu	37	8	8235300	8235300	+	Missense_Mutation	SNP	A	A	G			TCGA-HE-A5NJ-01A-11D-A26P-10	TCGA-HE-A5NJ-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9dbd55c-5dcc-48db-8785-6baef3fdd7db	de0653ad-a848-4f4b-b675-6cb625cb5167	g.chr8:8235300A>G	ENST00000520004.1	-	3	883	c.619T>C	c.(619-621)Ttc>Ctc	p.F207L	SGK223_ENST00000330777.4_Missense_Mutation_p.F207L			Q86YV5	SG223_HUMAN		207							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										TTCTGGCGGAAGCTCTCCTGG	0.602																																					GBM(34;731 755 10259 33573 33867)											0													88	97	94					8																	8235300		1951	4139	6090	SO:0001583	missense	0																														ENST00000520004.1:c.619T>C	chr8.hg19:g.8235300A>G	ENSP00000428054:p.Phe207Leu		Q8N3N5	Missense_Mutation	SNP	ENST00000520004.1	hg19	CCDS43706.1	.	.	.	.	.	.	.	.	.	.	A	10.85	1.466943	0.26335	.	.	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.56103	0.48;0.48	5.2	5.2	0.72013	.	0.099877	0.41605	D	0.000844	T	0.38188	0.1031	L	0.32530	0.975	0.30179	N	0.800576	B	0.27351	0.176	B	0.25884	0.064	T	0.37150	-0.9718	10	0.37606	T	0.19	.	7.5573	0.27831	0.8992:0.0:0.1008:0.0	.	207	Q86YV5	SG223_HUMAN	L	207	ENSP00000330930:F207L;ENSP00000428054:F207L	ENSP00000330930:F207L	F	-	1	0	AC068353.1	8272710	0.988000	0.35896	1.000000	0.80357	0.426000	0.31534	1.270000	0.33086	2.089000	0.63090	0.533000	0.62120	TTC		0.602	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			G	8235300	A	G	8235300	3	3	675	1	0	0	0	0	1	0	0	0	14216	72	3	3	3605	3	SGK223	8	8235300	Missense_Mutation	SNP	A	TCGA-HE-A5NJ-01A-11D-A26P-10		8235300	138128722	26	37171											
PXDNL	137902	hgsc.bcm.edu	37	8	52359698	52359698	+	Missense_Mutation	SNP	T	T	A			TCGA-HE-A5NJ-01A-11D-A26P-10	TCGA-HE-A5NJ-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9dbd55c-5dcc-48db-8785-6baef3fdd7db	de0653ad-a848-4f4b-b675-6cb625cb5167	g.chr8:52359698T>A	ENST00000356297.4	-	12	1491	c.1391A>T	c.(1390-1392)cAg>cTg	p.Q464L	PXDNL_ENST00000543296.1_Missense_Mutation_p.Q464L	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	464	Ig-like C2-type 3.				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)				AACTGTATGCTGGCCTTCCAC	0.512																																																0													109	107	108					8																	52359698		2028	4190	6218	SO:0001583	missense	137902				CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"Immunoglobulin superfamily / I-set domain containing"	26359	protein-coding gene	gene with protein product	"polysomal ribonuclease 1 homolog (Xenopus)"	615904	"peroxidasin homolog-like (Drosophila)"			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.1391A>T	chr8.hg19:g.52359698T>A	ENSP00000348645:p.Gln464Leu		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	hg19	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	T	5.421	0.262910	0.10294	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	D;D	0.81659	-1.52;-1.52	4.02	-7.16	0.01516	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.65450	0.2692	L	0.43701	1.375	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.49523	-0.8931	9	0.36615	T	0.2	.	4.0424	0.09758	0.3721:0.1572:0.0:0.4707	.	464	A1KZ92	PXDNL_HUMAN	L	464	ENSP00000348645:Q464L;ENSP00000444865:Q464L	ENSP00000348645:Q464L	Q	-	2	0	PXDNL	52522251	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	0.100000	0.15231	-1.355000	0.02186	-0.375000	0.07067	CAG		0.512	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		A	52359698	T	A	52359698	3	1	675	1	0	0	0	0	1	0	0	0	12854	1580	55	5	3048	5	PXDNL	8	52359698	Missense_Mutation	SNP	T	TCGA-HE-A5NJ-01A-11D-A26P-10	44124398	52359698	94004324	27	37172											
RB1CC1	9821	hgsc.bcm.edu	37	8	53555097	53555097	+	Missense_Mutation	SNP	T	T	G			TCGA-HE-A5NJ-01A-11D-A26P-10	TCGA-HE-A5NJ-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9dbd55c-5dcc-48db-8785-6baef3fdd7db	de0653ad-a848-4f4b-b675-6cb625cb5167	g.chr8:53555097T>G	ENST00000025008.5	-	18	4674	c.4151A>C	c.(4150-4152)aAg>aCg	p.K1384T	RB1CC1_ENST00000435644.2_Missense_Mutation_p.K1384T|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Missense_Mutation_p.K1384T	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	1384					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)				TTCTTCAAGCTTTTTCTTTTC	0.383																																					GBM(180;1701 2102 13475 42023 52570)											0													96	91	93					8																	53555097		2203	4300	6503	SO:0001583	missense	9821			AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"200 kDa FAK family kinase-interacting protein", "phosphatase 1, regulatory subunit 131"	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.4151A>C	chr8.hg19:g.53555097T>G	ENSP00000025008:p.Lys1384Thr		Q86YR4|Q8WVU9|Q92601	Missense_Mutation	SNP	ENST00000025008.5	hg19	CCDS34892.1	.	.	.	.	.	.	.	.	.	.	T	16.15	3.040807	0.55003	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	T;T;T	0.18338	2.22;2.22;2.22	5.61	4.46	0.54185	.	0.235291	0.44097	D	0.000482	T	0.12561	0.0305	L	0.27053	0.805	0.34041	D	0.654965	B;B	0.30361	0.277;0.181	B;B	0.33042	0.157;0.075	T	0.22941	-1.0202	10	0.26408	T	0.33	-15.3958	10.1369	0.42712	0.0:0.0806:0.0:0.9194	.	1384;1384	Q8TDY2-2;Q8TDY2	.;RBCC1_HUMAN	T	1384	ENSP00000025008:K1384T;ENSP00000396067:K1384T;ENSP00000445960:K1384T	ENSP00000025008:K1384T	K	-	2	0	RB1CC1	53717650	0.999000	0.42202	0.825000	0.32803	0.998000	0.95712	3.259000	0.51515	0.950000	0.37743	0.533000	0.62120	AAG		0.383	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	NM_014781		G	53555097	T	G	53555097	3	3	675	1	0	0	0	0	1	0	0	0	13105	1609	56	5	661	5	RB1CC1	8	53555097	Missense_Mutation	SNP	T	TCGA-HE-A5NJ-01A-11D-A26P-10	1195399	53555097	92808925	28	37173											
UTP23	84294	hgsc.bcm.edu	37	8	117782585	117782585	+	Missense_Mutation	SNP	C	C	T			TCGA-HE-A5NJ-01A-11D-A26P-10	TCGA-HE-A5NJ-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9dbd55c-5dcc-48db-8785-6baef3fdd7db	de0653ad-a848-4f4b-b675-6cb625cb5167	g.chr8:117782585C>T	ENST00000309822.2	+	2	444	c.343C>T	c.(343-345)Cat>Tat	p.H115Y	UTP23_ENST00000517820.1_Intron|UTP23_ENST00000357148.3_Missense_Mutation_p.H115Y|UTP23_ENST00000520733.1_Missense_Mutation_p.H9Y	NM_032334.2	NP_115710.2	Q9BRU9	UTP23_HUMAN	UTP23, small subunit (SSU) processome component, homolog (yeast)	115					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						AAATCCTCATCATTATTTTGT	0.353																																																0													112	105	107					8																	117782585		2203	4300	6503	SO:0001583	missense	84294				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.343C>T	chr8.hg19:g.117782585C>T	ENSP00000308332:p.His115Tyr		B2RE25|Q96NJ8	Missense_Mutation	SNP	ENST00000309822.2	hg19	CCDS6320.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.351801	0.82132	.	.	ENSG00000147679	ENST00000309822;ENST00000357148;ENST00000517814;ENST00000520733	T	0.24151	1.87	5.9	5.9	0.94986	.	0.093959	0.64402	D	0.000001	T	0.54935	0.1889	M	0.79011	2.435	0.58432	D	0.999998	D	0.71674	0.998	D	0.69142	0.962	T	0.54662	-0.8260	10	0.62326	D	0.03	-17.3326	20.2789	0.98501	0.0:1.0:0.0:0.0	.	115	Q9BRU9	UTP23_HUMAN	Y	115;115;115;9	ENSP00000308332:H115Y	ENSP00000308332:H115Y	H	+	1	0	UTP23	117851766	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.525000	0.67110	2.788000	0.95919	0.650000	0.86243	CAT		0.353	UTP23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381173.1	NM_032334		T	117782585	C	T	117782585	3	4	675	1	0	0	0	0	1	0	0	0	17105	826	29	2	349	2	UTP23	8	117782585	Missense_Mutation	SNP	C	TCGA-HE-A5NJ-01A-11D-A26P-10	64227488	117782585	28581437	29	37174											
NFKBIL2	4796	hgsc.bcm.edu	37	8	145668588	145668588	+	Missense_Mutation	SNP	C	C	G			TCGA-HE-A5NJ-01A-11D-A26P-10	TCGA-HE-A5NJ-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9dbd55c-5dcc-48db-8785-6baef3fdd7db	de0653ad-a848-4f4b-b675-6cb625cb5167	g.chr8:145668588C>G	ENST00000409379.3	-	4	410	c.381G>C	c.(379-381)agG>agC	p.R127S		NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	127					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						GCAAAGCATCCCTCGACTGGC	0.622																																																0													78	80	79					8																	145668588		692	1591	2283	SO:0001583	missense	4796				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.381G>C	chr8.hg19:g.145668588C>G	ENSP00000386239:p.Arg127Ser		B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Missense_Mutation	SNP	ENST00000409379.3	hg19	CCDS34968.2	.	.	.	.	.	.	.	.	.	.	C	3.081	-0.189045	0.06299	.	.	ENSG00000160949	ENST00000409379;ENST00000422691	T	0.75367	-0.93	4.66	2.56	0.30785	Tetratricopeptide-like helical (1);	.	.	.	.	T	0.56630	0.1998	L	0.36672	1.1	0.09310	N	0.999996	B	0.29716	0.255	B	0.19148	0.024	T	0.36040	-0.9764	9	0.10111	T	0.7	.	7.8666	0.29541	0.1718:0.7237:0.0:0.1045	.	127	Q96HA7	TONSL_HUMAN	S	127	ENSP00000386239:R127S	ENSP00000386239:R127S	R	-	3	2	TONSL	145639396	0.079000	0.21365	0.105000	0.21289	0.613000	0.37349	0.816000	0.27267	0.930000	0.37217	0.462000	0.41574	AGG		0.622	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329668.2	NM_013432		G	145668588	C	G	145668588	3	3	675	1	0	0	0	0	1	0	0	0	10384	622	22	4	3847	4	NFKBIL2	8	145668588	Missense_Mutation	SNP	C	TCGA-HE-A5NJ-01A-11D-A26P-10	27886003	145668588	695434	30	37175											
KIAA1529	100499483	hgsc.bcm.edu	37	9	100128909	100128909	+	Silent	SNP	C	C	T	rs575555258		TCGA-HE-A5NJ-01A-11D-A26P-10	TCGA-HE-A5NJ-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9dbd55c-5dcc-48db-8785-6baef3fdd7db	de0653ad-a848-4f4b-b675-6cb625cb5167	g.chr9:100128909C>T	ENST00000357054.1	+	43	5018	c.4083C>T	c.(4081-4083)tgC>tgT	p.C1361C	CCDC180_ENST00000395220.1_3'UTR|MIR1302-8_ENST00000408342.1_RNA|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000529487.1_Silent_p.C1416C|CCDC180_ENST00000375202.2_Silent_p.C1416C			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	1361						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.C1361C(1)									TTGACCAGTGCGCCGAGAACA	0.532													C|||	1	0.000199681	0.0	0.0	5008	,	,		20527	0.0		0.0	False		,,,				2504	0.001															1	Substitution - coding silent(1)	large_intestine(1)											108	90	96					9																	100128909		2203	4300	6503	SO:0001819	synonymous_variant	0			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.4083C>T	chr9.hg19:g.100128909C>T			Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Silent	SNP	ENST00000357054.1	hg19																																																																																					0.532	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		T	100128909	C	T	100128909	2	4	675	1	0	0	0	0	0	0	0	1	8242	776	27	1		1	KIAA1529	9	100128909	Silent	SNP	C	TCGA-HE-A5NJ-01A-11D-A26P-10		100128909	41084522	31	37176											
IDI2	91734	hgsc.bcm.edu	37	10	1066741	1066741	+	Missense_Mutation	SNP	C	C	T	rs368608756		TCGA-HE-A5NJ-01A-11D-A26P-10	TCGA-HE-A5NJ-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9dbd55c-5dcc-48db-8785-6baef3fdd7db	de0653ad-a848-4f4b-b675-6cb625cb5167	g.chr10:1066741C>T	ENST00000277517.1	-	4	396	c.332G>A	c.(331-333)cGt>cAt	p.R111H	IDI2-AS1_ENST00000434470.1_RNA|IDI2-AS1_ENST00000420381.1_RNA|IDI2-AS1_ENST00000437374.1_RNA|IDI2-AS1_ENST00000536039.1_RNA|IDI2-AS1_ENST00000428780.2_RNA	NM_033261.2	NP_150286.1	Q9BXS1	IDI2_HUMAN	isopentenyl-diphosphate delta isomerase 2	111	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				cholesterol biosynthetic process (GO:0006695)|dimethylallyl diphosphate biosynthetic process (GO:0050992)|isopentenyl diphosphate metabolic process (GO:0046490)|isoprenoid biosynthetic process (GO:0008299)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|isopentenyl-diphosphate delta-isomerase activity (GO:0004452)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9		Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.143)	Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192)		TGCTTGCAGACGCCTCTGGGC	0.572													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16338	0.0		0.0	False		,,,				2504	0.0															0													100	86	91					10																	1066741		2203	4300	6503	SO:0001583	missense	91734			AF271725	CCDS7055.1	10p15.3	2003-11-19			ENSG00000148377	ENSG00000148377			23487	protein-coding gene	gene with protein product		615389				12477932	Standard	NM_033261		Approved	IPPI2	uc001ifv.1	Q9BXS1	OTTHUMG00000017537	ENST00000277517.1:c.332G>A	chr10.hg19:g.1066741C>T	ENSP00000277517:p.Arg111His			Missense_Mutation	SNP	ENST00000277517.1	hg19	CCDS7055.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.673904	0.47781	.	.	ENSG00000148377	ENST00000277517	T	0.08193	3.12	4.09	-1.8	0.07907	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.116280	0.53938	U	0.000051	T	0.25568	0.0622	M	0.88979	2.995	0.20403	N	0.999907	D	0.71674	0.998	D	0.65573	0.936	T	0.05354	-1.0890	10	0.87932	D	0	-4.7047	8.2637	0.31801	0.0:0.6495:0.1046:0.246	.	111	Q9BXS1	IDI2_HUMAN	H	111	ENSP00000277517:R111H	ENSP00000277517:R111H	R	-	2	0	IDI2	1056741	0.103000	0.21917	0.000000	0.03702	0.001000	0.01503	2.002000	0.40835	-1.050000	0.03230	-2.005000	0.00442	CGT		0.572	IDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046411.1	NM_033261		T	1066741	C	T	1066741	3	4	675	1	0	0	0	0	1	0	0	0	7502	536	19	1	359	1	IDI2	10	1066741	Missense_Mutation	SNP	C	TCGA-HE-A5NJ-01A-11D-A26P-10		1066741	134468006	32	37177											
MYPN	84665	hgsc.bcm.edu	37	10	69959137	69959137	+	Missense_Mutation	SNP	C	C	T			TCGA-HE-A5NJ-01A-11D-A26P-10	TCGA-HE-A5NJ-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9dbd55c-5dcc-48db-8785-6baef3fdd7db	de0653ad-a848-4f4b-b675-6cb625cb5167	g.chr10:69959137C>T	ENST00000358913.5	+	17	3786	c.3298C>T	c.(3298-3300)Ccg>Tcg	p.P1100S	MYPN_ENST00000540630.1_Missense_Mutation_p.P1100S|MYPN_ENST00000354393.2_Missense_Mutation_p.P825S	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	1100	Ig-like 4.|Interaction with ACTN.				sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						GAGTGGTTTACCGCCCCCGGA	0.507																																																0													56	48	50					10																	69959137		2203	4300	6503	SO:0001583	missense	84665			AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"Immunoglobulin superfamily / I-set domain containing"	23246	protein-coding gene	gene with protein product	"sarcomeric protein myopalladin, 145 kDa"	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.3298C>T	chr10.hg19:g.69959137C>T	ENSP00000351790:p.Pro1100Ser		Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	ENST00000358913.5	hg19	CCDS7275.1	.	.	.	.	.	.	.	.	.	.	C	30	5.053409	0.93793	.	.	ENSG00000138347	ENST00000354393;ENST00000542332;ENST00000358913;ENST00000540630	T;T;T	0.80393	-1.37;-1.37;-1.37	5.38	5.38	0.77491	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94072	0.8100	H	0.97806	4.08	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.999;1.0	D	0.95767	0.8805	9	.	.	.	.	19.3311	0.94288	0.0:1.0:0.0:0.0	.	1100;825;1100	F5GWA6;Q86TC9-2;Q86TC9	.;.;MYPN_HUMAN	S	825;825;1100;1100	ENSP00000346369:P825S;ENSP00000351790:P1100S;ENSP00000441668:P1100S	.	P	+	1	0	MYPN	69629143	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	7.595000	0.82710	2.813000	0.96785	0.655000	0.94253	CCG		0.507	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		T	69959137	C	T	69959137	3	4	675	1	0	0	0	0	1	0	0	0	10100	507	18	2	3360	2	MYPN	10	69959137	Missense_Mutation	SNP	C	TCGA-HE-A5NJ-01A-11D-A26P-10	68892396	69959137	65575610	33	37178											
TRIM8	81603	hgsc.bcm.edu	37	10	104416093	104416093	+	Missense_Mutation	SNP	C	C	A			TCGA-HE-A5NJ-01A-11D-A26P-10	TCGA-HE-A5NJ-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9dbd55c-5dcc-48db-8785-6baef3fdd7db	de0653ad-a848-4f4b-b675-6cb625cb5167	g.chr10:104416093C>A	ENST00000302424.7	+	5	1121	c.999C>A	c.(997-999)ttC>ttA	p.F333L	TRIM8_ENST00000487927.1_3'UTR	NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN	tripartite motif containing 8	333					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 ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|PML body (GO:0016605)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CCAAGCTCTTCCTGAACGAAG	0.607																																																0													59	46	50					10																	104416093		2203	4300	6503	SO:0001583	missense	81603			AF281046	CCDS31274.1	10q24.3	2013-01-09	2011-01-25	2002-06-14	ENSG00000171206	ENSG00000171206		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	15579	protein-coding gene	gene with protein product	"glioblastoma expressed ring finger protein"	606125	"ring finger protein 27", "tripartite motif-containing 8"	RNF27		11118312, 12163497	Standard	NM_030912		Approved	GERP	uc001kvz.2	Q9BZR9	OTTHUMG00000018964	ENST00000302424.7:c.999C>A	chr10.hg19:g.104416093C>A	ENSP00000302120:p.Phe333Leu		A6NI31|Q9C028	Missense_Mutation	SNP	ENST00000302424.7	hg19	CCDS31274.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.940287	0.52972	.	.	ENSG00000171206	ENST00000302424;ENST00000369896	T	0.77489	-1.1	5.67	3.82	0.43975	.	0.000000	0.85682	D	0.000000	T	0.76205	0.3955	L	0.29908	0.895	0.58432	D	0.99999	P	0.52842	0.956	P	0.62184	0.899	T	0.69525	-0.5122	10	0.08837	T	0.75	.	12.1033	0.53796	0.0:0.8608:0.0:0.1392	.	333	Q9BZR9	TRIM8_HUMAN	L	333;332	ENSP00000302120:F333L	ENSP00000302120:F333L	F	+	3	2	TRIM8	104406083	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.588000	0.36633	0.753000	0.32945	0.555000	0.69702	TTC		0.607	TRIM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050084.3	NM_030912		A	104416093	C	A	104416093	3	1	675	1	0	0	0	0	1	0	0	0	16553	854	30	4	1017	4	TRIM8	10	104416093	Missense_Mutation	SNP	C	TCGA-HE-A5NJ-01A-11D-A26P-10	34456956	104416093	31118654	34	37179											
GPR83	10888	hgsc.bcm.edu	37	11	94113422	94113422	+	Missense_Mutation	SNP	T	T	A			TCGA-HE-A5NJ-01A-11D-A26P-10	TCGA-HE-A5NJ-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9dbd55c-5dcc-48db-8785-6baef3fdd7db	de0653ad-a848-4f4b-b675-6cb625cb5167	g.chr11:94113422T>A	ENST00000243673.2	-	4	1336	c.1165A>T	c.(1165-1167)Aat>Tat	p.N389Y	GPR83_ENST00000539203.2_Missense_Mutation_p.N347Y	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	389					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)				TGGCCATCATTCTTCTCTGTC	0.562																																																0													83	82	82					11																	94113422		2201	4298	6499	SO:0001583	missense	10888			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.1165A>T	chr11.hg19:g.94113422T>A	ENSP00000243673:p.Asn389Tyr		B0M0K5|Q6NWR4|Q9P1Y8	Missense_Mutation	SNP	ENST00000243673.2	hg19	CCDS8297.1	.	.	.	.	.	.	.	.	.	.	T	0	-2.689837	0.00100	.	.	ENSG00000123901	ENST00000243673;ENST00000539203	T;T	0.61392	0.11;0.22	5.75	0.538	0.17150	.	0.659318	0.17607	N	0.168232	T	0.31544	0.0800	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.17319	-1.0373	10	0.21014	T	0.42	.	9.6421	0.39846	0.0:0.4117:0.0:0.5883	.	389	Q9NYM4	GPR83_HUMAN	Y	389;347	ENSP00000243673:N389Y;ENSP00000441550:N347Y	ENSP00000243673:N389Y	N	-	1	0	GPR83	93753070	0.772000	0.28567	0.077000	0.20336	0.003000	0.03518	0.384000	0.20668	0.096000	0.17463	-0.250000	0.11733	AAT		0.562	GPR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396232.1	NM_016540		A	94113422	T	A	94113422	3	1	675	1	0	0	0	0	1	0	0	0	6715	1783	62	5	110	5	GPR83	11	94113422	Missense_Mutation	SNP	T	TCGA-HE-A5NJ-01A-11D-A26P-10		94113422	40893094	35	37180											
PIWIL4	143689	hgsc.bcm.edu	37	11	94340737	94340737	+	Missense_Mutation	SNP	A	A	G			TCGA-HE-A5NJ-01A-11D-A26P-10	TCGA-HE-A5NJ-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9dbd55c-5dcc-48db-8785-6baef3fdd7db	de0653ad-a848-4f4b-b675-6cb625cb5167	g.chr11:94340737A>G	ENST00000299001.6	+	14	1982	c.1771A>G	c.(1771-1773)Atc>Gtc	p.I591V	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	591	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				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)				GATGATGAGTATCGCCACCAA	0.453																																																0													89	82	84					11																	94340737		2201	4298	6499	SO:0001583	missense	143689			AB079366	CCDS31656.1	11q12	2013-02-15	2013-02-15			ENSG00000134627		"Argonaute/PIWI family"	18444	protein-coding gene	gene with protein product		610315	"piwi-like 4 (Drosophila)"			12906857	Standard	NM_152431		Approved	FLJ36156, HIWI2, Miwi2	uc001pfa.3	Q7Z3Z4		ENST00000299001.6:c.1771A>G	chr11.hg19:g.94340737A>G	ENSP00000299001:p.Ile591Val		B4DEG5|Q68CZ4|Q8N8G9|Q8N9V8|Q8NEH2	Missense_Mutation	SNP	ENST00000299001.6	hg19	CCDS31656.1	.	.	.	.	.	.	.	.	.	.	A	0.557	-0.846779	0.02671	.	.	ENSG00000134627	ENST00000299001	T	0.30448	1.53	4.75	-9.49	0.00587	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	1.548280	0.03817	N	0.266847	T	0.10337	0.0253	N	0.03881	-0.34	0.40307	D	0.978677	B	0.14438	0.01	B	0.21546	0.035	T	0.24621	-1.0155	10	0.06099	T	0.92	0.1986	8.5103	0.33213	0.4048:0.3269:0.2683:0.0	.	591	Q7Z3Z4	PIWL4_HUMAN	V	591	ENSP00000299001:I591V	ENSP00000299001:I591V	I	+	1	0	PIWIL4	93980385	0.000000	0.05858	0.000000	0.03702	0.135000	0.20990	-0.634000	0.05477	-2.120000	0.00826	-0.472000	0.04984	ATC		0.453	PIWIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396388.1	NM_152431		G	94340737	A	G	94340737	3	3	675	1	0	0	0	0	1	0	0	0	11962	449	16	3	1825	3	PIWIL4	11	94340737	Missense_Mutation	SNP	A	TCGA-HE-A5NJ-01A-11D-A26P-10	227315	94340737	40665779	36	37181											
CD9	928	hgsc.bcm.edu	37	12	6309731	6309731	+	Splice_Site	SNP	G	G	A			TCGA-HE-A5NJ-01A-11D-A26P-10	TCGA-HE-A5NJ-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9dbd55c-5dcc-48db-8785-6baef3fdd7db	de0653ad-a848-4f4b-b675-6cb625cb5167	g.chr12:6309731G>A	ENST00000382518.1	+	2	502	c.66G>A	c.(64-66)tgG>tgA	p.W22*	CD9_ENST00000382515.2_5'Flank|CD9_ENST00000009180.4_Splice_Site_p.W22*			P21926	CD9_HUMAN	CD9 molecule	22					blood coagulation (GO:0007596)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|negative regulation of cell proliferation (GO:0008285)|oligodendrocyte development (GO:0014003)|paranodal junction assembly (GO:0030913)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|response to water deprivation (GO:0009414)|single fertilization (GO:0007338)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|vesicle (GO:0031982)				endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	8						TCATCTTCTGGGTGAGTGAGC	0.652																																																0													84	75	78					12																	6309731		2203	4300	6503	SO:0001630	splice_region_variant	928			M38690	CCDS8540.1	12p13	2013-02-14	2006-03-28		ENSG00000010278	ENSG00000010278		"CD molecules", "Tetraspanins"	1709	protein-coding gene	gene with protein product	"motility related protein-1"	143030	"CD9 antigen (p24)"	MIC3		6198179	Standard	NM_001769		Approved	BA2, P24, TSPAN29, MRP-1	uc001qnq.2	P21926	OTTHUMG00000044400	ENST00000382518.1:c.66+1G>A	chr12.hg19:g.6309731G>A			D3DUQ9|Q5J7W6|Q96ES4	Nonsense_Mutation	SNP	ENST00000382518.1	hg19	CCDS8540.1	.	.	.	.	.	.	.	.	.	.	G	38	6.691846	0.97768	.	.	ENSG00000010278	ENST00000382518;ENST00000536586;ENST00000382519;ENST00000425469;ENST00000009180	.	.	.	4.21	4.21	0.49690	.	0.298550	0.40302	N	0.001139	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.934	0.52864	0.0:0.0:1.0:0.0	.	.	.	.	X	22	.	ENSP00000009180:W22X	W	+	3	0	CD9	6179992	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.636000	0.67848	2.176000	0.68965	0.544000	0.68410	TGG		0.652	CD9-004	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103348.1		Nonsense_Mutation	A	6309731	G	A	6309731	5	1	675	1	0	0	0	0	0	0	1	0	3048	1246	43	2	68	2	CD9	12	6309731	Splice_Site	SNP	G	TCGA-HE-A5NJ-01A-11D-A26P-10		6309731	127542164	37	37182											
XPOT	11260	hgsc.bcm.edu	37	12	64827226	64827226	+	Missense_Mutation	SNP	C	C	A			TCGA-HE-A5NJ-01A-11D-A26P-10	TCGA-HE-A5NJ-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9dbd55c-5dcc-48db-8785-6baef3fdd7db	de0653ad-a848-4f4b-b675-6cb625cb5167	g.chr12:64827226C>A	ENST00000332707.5	+	19	2824	c.2295C>A	c.(2293-2295)ttC>ttA	p.F765L		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	765	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)			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)		AACAGATGTTCATGCCCCTGC	0.383																																																0													142	139	140					12																	64827226		2203	4300	6503	SO:0001583	missense	11260			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.2295C>A	chr12.hg19:g.64827226C>A	ENSP00000327821:p.Phe765Leu		A6NLH1|O43784|Q8WUG2|Q9BVS7	Missense_Mutation	SNP	ENST00000332707.5	hg19	CCDS31852.1	.	.	.	.	.	.	.	.	.	.	C	9.351	1.065624	0.20067	.	.	ENSG00000184575	ENST00000332707	T	0.35048	1.33	4.99	1.1	0.20463	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.25121	0.0610	L	0.43923	1.385	0.58432	D	0.999994	B	0.26483	0.15	B	0.19946	0.027	T	0.05632	-1.0873	9	.	.	.	.	8.7565	0.34648	0.0:0.4567:0.0:0.5433	.	765	O43592	XPOT_HUMAN	L	765	ENSP00000327821:F765L	.	F	+	3	2	XPOT	63113493	1.000000	0.71417	0.998000	0.56505	0.566000	0.35808	0.960000	0.29253	-0.000000	0.14550	0.650000	0.86243	TTC		0.383	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401122.1	NM_007235		A	64827226	C	A	64827226	3	1	675	1	0	0	0	0	1	0	0	0	17455	825	29	4	2365	4	XPOT	12	64827226	Missense_Mutation	SNP	C	TCGA-HE-A5NJ-01A-11D-A26P-10	58517495	64827226	69024669	38	37183											
SLC35E3	55508	hgsc.bcm.edu	37	12	69158530	69158530	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HE-A5NJ-01A-11D-A26P-10	TCGA-HE-A5NJ-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9dbd55c-5dcc-48db-8785-6baef3fdd7db	de0653ad-a848-4f4b-b675-6cb625cb5167	g.chr12:69158530G>T	ENST00000398004.2	+	5	1074	c.802G>T	c.(802-804)Gga>Tga	p.G268*	SLC35E3_ENST00000538043.1_Intron	NM_018656.2	NP_061126.2	Q7Z769	S35E3_HUMAN	solute carrier family 35, member E3	268						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Breast(13;2.31e-06)|Renal(347;0.0684)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00372)			TTTATTCGGAGGATATGTTTT	0.348																																																0													193	176	181					12																	69158530		1870	4096	5966	SO:0001587	stop_gained	55508			AF148713, AY358943	CCDS41808.1	12q15	2014-09-04			ENSG00000175782	ENSG00000175782		"Solute carriers"	20864	protein-coding gene	gene with protein product						12975309	Standard	XM_005269006		Approved	BLOV1	uc001suh.3	Q7Z769	OTTHUMG00000169282	ENST00000398004.2:c.802G>T	chr12.hg19:g.69158530G>T	ENSP00000381089:p.Gly268*		A8K0T0|Q0P5Y5|Q9P0V1	Nonsense_Mutation	SNP	ENST00000398004.2	hg19	CCDS41808.1	.	.	.	.	.	.	.	.	.	.	G	38	6.908915	0.97928	.	.	ENSG00000175782	ENST00000398004	.	.	.	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.3112	19.4381	0.94806	0.0:0.0:1.0:0.0	.	.	.	.	X	268	.	.	G	+	1	0	SLC35E3	67444797	1.000000	0.71417	0.999000	0.59377	0.697000	0.40408	8.902000	0.92568	2.676000	0.91093	0.561000	0.74099	GGA		0.348	SLC35E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403241.1	NM_018656		T	69158530	G	T	69158530	4	4	675	1	0	0	0	0	0	1	0	0	14592	1001	35	4	820	4	SLC35E3	12	69158530	Nonsense_Mutation	SNP	G	TCGA-HE-A5NJ-01A-11D-A26P-10	4331304	69158530	64693365	39	37184											
UHRF1BP1L	23074	hgsc.bcm.edu	37	12	100453199	100453199	+	Missense_Mutation	SNP	C	C	G	rs374748413		TCGA-HE-A5NJ-01A-11D-A26P-10	TCGA-HE-A5NJ-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9dbd55c-5dcc-48db-8785-6baef3fdd7db	de0653ad-a848-4f4b-b675-6cb625cb5167	g.chr12:100453199C>G	ENST00000279907.7	-	14	2068	c.1856G>C	c.(1855-1857)cGa>cCa	p.R619P	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.R269P	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	619								p.R619Q(1)		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						GTCAGAATGTCGACAGTTTGG	0.353																																																1	Substitution - Missense(1)	large_intestine(1)											47	50	49					12																	100453199		2203	4300	6503	SO:0001583	missense	23074				CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.1856G>C	chr12.hg19:g.100453199C>G	ENSP00000279907:p.Arg619Pro		A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Missense_Mutation	SNP	ENST00000279907.7	hg19	CCDS31882.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.110310	0.56398	.	.	ENSG00000111647	ENST00000279907;ENST00000545232	T;T	0.10960	2.83;2.82	5.56	5.56	0.83823	.	0.071690	0.56097	D	0.000028	T	0.26159	0.0638	L	0.51422	1.61	0.80722	D	1	D	0.63046	0.992	P	0.59115	0.852	T	0.00102	-1.2063	10	0.48119	T	0.1	-7.7813	19.5255	0.95203	0.0:1.0:0.0:0.0	.	619	A0JNW5	UH1BL_HUMAN	P	619;269	ENSP00000279907:R619P;ENSP00000444824:R269P	ENSP00000279907:R619P	R	-	2	0	UHRF1BP1L	98977330	1.000000	0.71417	0.996000	0.52242	0.984000	0.73092	4.740000	0.62087	2.624000	0.88883	0.650000	0.86243	CGA		0.353	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947		G	100453199	C	G	100453199	3	3	675	1	0	0	0	0	1	0	0	0	16974	884	31	4	2570	4	UHRF1BP1L	12	100453199	Missense_Mutation	SNP	C	TCGA-HE-A5NJ-01A-11D-A26P-10	31294669	100453199	33398696	40	37185											
SCYL2	55681	hgsc.bcm.edu	37	12	100707272	100707272	+	Missense_Mutation	SNP	A	A	T			TCGA-HE-A5NJ-01A-11D-A26P-10	TCGA-HE-A5NJ-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9dbd55c-5dcc-48db-8785-6baef3fdd7db	de0653ad-a848-4f4b-b675-6cb625cb5167	g.chr12:100707272A>T	ENST00000360820.2	+	7	1362	c.925A>T	c.(925-927)Aat>Tat	p.N309Y		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	309	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				endosome to lysosome transport (GO:0008333)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of receptor internalization (GO:0002092)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						GCTACTGTTAAATGTAACTCC	0.363																																																0													94	84	87					12																	100707272		2203	4300	6503	SO:0001583	missense	55681			AB037781	CCDS9076.1	12q23.1	2005-01-20				ENSG00000136021			19286	protein-coding gene	gene with protein product						10718198	Standard	NM_017988		Approved	KIAA1360	uc001thn.3	Q6P3W7	OTTHUMG00000170319	ENST00000360820.2:c.925A>T	chr12.hg19:g.100707272A>T	ENSP00000354061:p.Asn309Tyr		A8KAB5|Q96EF4|Q96ST4|Q9H7V5|Q9NVH3|Q9P2I7	Missense_Mutation	SNP	ENST00000360820.2	hg19	CCDS9076.1	.	.	.	.	.	.	.	.	.	.	A	29.9	5.046858	0.93740	.	.	ENSG00000136021	ENST00000549687;ENST00000258506;ENST00000360820	T;T	0.66815	-0.23;-0.23	5.87	5.87	0.94306	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.039673	0.85682	D	0.000000	T	0.78349	0.4269	M	0.68952	2.095	0.80722	D	1	P	0.45240	0.854	P	0.57009	0.811	T	0.79680	-0.1702	10	0.62326	D	0.03	.	16.2736	0.82632	1.0:0.0:0.0:0.0	.	309	Q6P3W7	SCYL2_HUMAN	Y	309;136;309	ENSP00000448366:N309Y;ENSP00000354061:N309Y	ENSP00000258506:N136Y	N	+	1	0	SCYL2	99231403	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	8.769000	0.91742	2.247000	0.74100	0.477000	0.44152	AAT		0.363	SCYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408493.2	NM_017988		T	100707272	A	T	100707272	3	4	675	1	0	0	0	0	1	0	0	0	13954	14	1	5	947	5	SCYL2	12	100707272	Missense_Mutation	SNP	A	TCGA-HE-A5NJ-01A-11D-A26P-10	254073	100707272	33144623	41	37186											
IFT81	28981	hgsc.bcm.edu	37	12	110565896	110565896	+	Nonsense_Mutation	SNP	C	C	T	rs372027811		TCGA-HE-A5NJ-01A-11D-A26P-10	TCGA-HE-A5NJ-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9dbd55c-5dcc-48db-8785-6baef3fdd7db	de0653ad-a848-4f4b-b675-6cb625cb5167	g.chr12:110565896C>T	ENST00000242591.5	+	3	696	c.190C>T	c.(190-192)Cga>Tga	p.R64*	IFT81_ENST00000552912.1_Nonsense_Mutation_p.R64*|IFT81_ENST00000361948.4_Nonsense_Mutation_p.R64*	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81	64	CH (calponin-homology)-like region.				cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|spermatogenesis (GO:0007283)	centrosome (GO:0005813)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)	tubulin binding (GO:0015631)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						GACAGCCAAACGAATGTTGAG	0.343																																																0								C	stop/ARG,stop/ARG,stop/ARG	2,4404	4.2+/-10.8	0,2,2201	125	120	122		190,190,190	2.9	1	12		122	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained,stop-gained	IFT81	NM_001143779.1,NM_014055.3,NM_031473.3	,,	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	,,	64/677,64/677,64/432	110565896	3,13003	2203	4300	6503	SO:0001587	stop_gained	28981			AF139540	CCDS9142.1, CCDS41831.1	12q24.13	2014-07-03	2014-07-03	2005-11-02		ENSG00000122970		"Intraflagellar transport homologs"	14313	protein-coding gene	gene with protein product		605489	"carnitine deficiency-associated, expressed in ventricle 1", "intraflagellar transport 81 homolog (Chlamydomonas)"	CDV1		11130971	Standard	NM_014055		Approved	CDV-1R, MGC4027	uc001tqi.3	Q8WYA0	OTTHUMG00000169326	ENST00000242591.5:c.190C>T	chr12.hg19:g.110565896C>T	ENSP00000242591:p.Arg64*		Q2YDY1|Q8NB51|Q9BSV2|Q9UNY8	Nonsense_Mutation	SNP	ENST00000242591.5	hg19	CCDS41831.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.830743	0.91036	4.54E-4	1.16E-4	ENSG00000122970	ENST00000361948;ENST00000552912;ENST00000242591;ENST00000546374	.	.	.	5.96	2.88	0.33553	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.6056	16.1793	0.81889	0.5747:0.4253:0.0:0.0	.	.	.	.	X	64	.	ENSP00000242591:R64X	R	+	1	2	IFT81	109050279	0.998000	0.40836	0.997000	0.53966	0.972000	0.66771	1.423000	0.34837	0.248000	0.21435	0.655000	0.94253	CGA		0.343	IFT81-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403529.1	NM_014055		T	110565896	C	T	110565896	4	4	675	1	0	0	0	0	0	1	0	0	7567	528	19	1	196	1	IFT81	12	110565896	Nonsense_Mutation	SNP	C	TCGA-HE-A5NJ-01A-11D-A26P-10	9858624	110565896	23285999	42	37187											
OLFM4	10562	hgsc.bcm.edu	37	13	53624827	53624827	+	Missense_Mutation	SNP	C	C	A			TCGA-HE-A5NJ-01A-11D-A26P-10	TCGA-HE-A5NJ-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9dbd55c-5dcc-48db-8785-6baef3fdd7db	de0653ad-a848-4f4b-b675-6cb625cb5167	g.chr13:53624827C>A	ENST00000219022.2	+	5	1532	c.1454C>A	c.(1453-1455)cCt>cAt	p.P485H		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	485	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)		AACTATAACCCTTTTGACCAG	0.378																																																0													99	100	100					13																	53624827		2203	4300	6503	SO:0001583	missense	10562			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.1454C>A	chr13.hg19:g.53624827C>A	ENSP00000219022:p.Pro485His		O95362|Q5VWG0|Q86T22	Missense_Mutation	SNP	ENST00000219022.2	hg19	CCDS9440.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.816222	0.90790	.	.	ENSG00000102837	ENST00000219022	T	0.19669	2.13	5.64	5.64	0.86602	Olfactomedin-like (3);	0.049423	0.85682	D	0.000000	T	0.58409	0.2120	M	0.90922	3.16	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67465	-0.5664	10	0.87932	D	0	.	19.7082	0.96082	0.0:1.0:0.0:0.0	.	485	Q6UX06	OLFM4_HUMAN	H	485	ENSP00000219022:P485H	ENSP00000219022:P485H	P	+	2	0	OLFM4	52522828	1.000000	0.71417	0.882000	0.34594	0.914000	0.54420	6.095000	0.71439	2.651000	0.90000	0.585000	0.79938	CCT		0.378	OLFM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045112.2	NM_006418		A	53624827	C	A	53624827	3	1	675	1	0	0	0	0	1	0	0	0	10857	681	24	4	1472	4	OLFM4	13	53624827	Missense_Mutation	SNP	C	TCGA-HE-A5NJ-01A-11D-A26P-10		53624827	61545051	43	37188											
C14orf105	55195	hgsc.bcm.edu	37	14	57960296	57960296	+	Silent	SNP	T	T	A			TCGA-HE-A5NJ-01A-11D-A26P-10	TCGA-HE-A5NJ-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9dbd55c-5dcc-48db-8785-6baef3fdd7db	de0653ad-a848-4f4b-b675-6cb625cb5167	g.chr14:57960296T>A	ENST00000216445.3	-	1	274	c.138A>T	c.(136-138)tcA>tcT	p.S46S	C14orf105_ENST00000534126.1_Silent_p.S46S|C14orf105_ENST00000422976.2_Silent_p.S46S|C14orf105_ENST00000526336.1_Silent_p.S46S	NM_001283057.1|NM_018168.2	NP_001269986.1|NP_060638.2	Q9NVL8	CN105_HUMAN	chromosome 14 open reading frame 105	46										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						GTCTTGCCAGTGAATATGAAG	0.438																																																0													126	127	127					14																	57960296		2203	4300	6503	SO:0001819	synonymous_variant	55195			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.138A>T	chr14.hg19:g.57960296T>A			Q53G04	Silent	SNP	ENST00000216445.3	hg19	CCDS9730.1																																																																																				0.438	C14orf105-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276921.2	NM_018168		A	57960296	T	A	57960296	2	1	675	1	0	0	0	0	0	0	0	1	1739	1683	59	5		5	C14orf105	14	57960296	Silent	SNP	T	TCGA-HE-A5NJ-01A-11D-A26P-10		57960296	49389244	44	37189											
PAPLN	89932	hgsc.bcm.edu	37	14	73712877	73712877	+	Missense_Mutation	SNP	T	T	G			TCGA-HE-A5NJ-01A-11D-A26P-10	TCGA-HE-A5NJ-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9dbd55c-5dcc-48db-8785-6baef3fdd7db	de0653ad-a848-4f4b-b675-6cb625cb5167	g.chr14:73712877T>G	ENST00000554301.1	+	4	491	c.328T>G	c.(328-330)Tac>Gac	p.Y110D	RNU6-419P_ENST00000517030.1_RNA|PAPLN_ENST00000555445.1_Missense_Mutation_p.Y110D|PAPLN_ENST00000381166.3_Missense_Mutation_p.Y110D|PAPLN_ENST00000340738.5_Missense_Mutation_p.Y110D|RP4-647C14.2_ENST00000554614.1_RNA|PAPLN_ENST00000427855.1_Missense_Mutation_p.Y110D			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	110						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)		GCTGCCCTACTACAGCGGTGA	0.642																																																0													8	10	10					14																	73712877		2163	4255	6418	SO:0001583	missense	89932			BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767		"Immunoglobulin superfamily / I-set domain containing"	19262	protein-coding gene	gene with protein product						11076767, 19734141	Standard	NM_173462		Approved	MGC50452	uc001xnw.4	O95428		ENST00000554301.1:c.328T>G	chr14.hg19:g.73712877T>G	ENSP00000451803:p.Tyr110Asp		B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Missense_Mutation	SNP	ENST00000554301.1	hg19		.	.	.	.	.	.	.	.	.	.	T	23.3	4.398999	0.83120	.	.	ENSG00000100767	ENST00000340738;ENST00000427855;ENST00000381166;ENST00000394134;ENST00000554301;ENST00000555445	T;T;T;T;T	0.03441	3.93;3.93;3.93;3.93;3.93	4.26	4.26	0.50523	.	.	.	.	.	T	0.17662	0.0424	M	0.82132	2.575	0.47698	D	0.999491	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.72625	0.978;0.951;0.975	T	0.00593	-1.1654	9	0.62326	D	0.03	.	13.222	0.59894	0.0:0.0:0.0:1.0	.	110;110;110	O95428-5;O95428;O95428-6	.;PPN_HUMAN;.	D	110	ENSP00000345395:Y110D;ENSP00000403403:Y110D;ENSP00000370558:Y110D;ENSP00000451803:Y110D;ENSP00000451729:Y110D	ENSP00000216658:Y110D	Y	+	1	0	PAPLN	72782630	1.000000	0.71417	0.997000	0.53966	0.671000	0.39405	4.002000	0.57053	1.789000	0.52484	0.379000	0.24179	TAC		0.642	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000413182.1	NM_173462		G	73712877	T	G	73712877	3	3	675	1	0	0	0	0	1	0	0	0	11430	1522	53	5	342	5	PAPLN	14	73712877	Missense_Mutation	SNP	T	TCGA-HE-A5NJ-01A-11D-A26P-10	15752581	73712877	33636663	45	37190											
C14orf43	91748	hgsc.bcm.edu	37	14	74186137	74186137	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NJ-01A-11D-A26P-10	TCGA-HE-A5NJ-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9dbd55c-5dcc-48db-8785-6baef3fdd7db	de0653ad-a848-4f4b-b675-6cb625cb5167	g.chr14:74186137G>A	ENST00000286523.5	-	12	3787	c.3005C>T	c.(3004-3006)tCg>tTg	p.S1002L	ELMSAN1_ENST00000394071.2_Missense_Mutation_p.S1002L	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	1002					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										TGGCTTCTCCGAGGCCTGGCC	0.527																																																0													66	57	60					14																	74186137		2203	4300	6503	SO:0001583	missense	91748			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.3005C>T	chr14.hg19:g.74186137G>A	ENSP00000286523:p.Ser1002Leu		Q6PK13|Q6PK59|Q6ZS23	Missense_Mutation	SNP	ENST00000286523.5	hg19	CCDS9819.1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.238379	0.22711	.	.	ENSG00000156030	ENST00000394071;ENST00000286523;ENST00000423556;ENST00000435371	T;T;T;T	0.16597	2.33;2.33;2.33;2.34	5.78	3.01	0.34805	.	0.864589	0.10001	N	0.728430	T	0.10723	0.0262	N	0.14661	0.345	0.09310	N	1	B;B	0.11235	0.004;0.002	B;B	0.06405	0.002;0.001	T	0.31336	-0.9947	10	0.54805	T	0.06	-0.0033	7.6864	0.28542	0.2049:0.1262:0.6689:0.0	.	1002;1002	A0PJD3;Q6PJG2	.;CN043_HUMAN	L	1002	ENSP00000377634:S1002L;ENSP00000286523:S1002L;ENSP00000407767:S1002L;ENSP00000402380:S1002L	ENSP00000286523:S1002L	S	-	2	0	C14orf43	73255890	0.009000	0.17119	0.019000	0.16419	0.097000	0.18754	0.897000	0.28390	0.389000	0.25086	-0.258000	0.10820	TCG		0.527	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1	NM_194278		A	74186137	G	A	74186137	3	1	675	1	0	0	0	0	1	0	0	0	1776	1059	37	1	136	1	C14orf43	14	74186137	Missense_Mutation	SNP	G	TCGA-HE-A5NJ-01A-11D-A26P-10	473260	74186137	33163403	46	37191											
NUSAP1	51203	hgsc.bcm.edu	37	15	41669495	41669495	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HE-A5NJ-01A-11D-A26P-10	TCGA-HE-A5NJ-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9dbd55c-5dcc-48db-8785-6baef3fdd7db	de0653ad-a848-4f4b-b675-6cb625cb5167	g.chr15:41669495C>T	ENST00000559596.1	+	10	1312	c.1225C>T	c.(1225-1227)Cag>Tag	p.Q409*	NUSAP1_ENST00000450592.2_Nonsense_Mutation_p.Q346*|NUSAP1_ENST00000560747.1_Nonsense_Mutation_p.Q407*|NUSAP1_ENST00000558123.1_3'UTR|NUSAP1_ENST00000260359.6_Nonsense_Mutation_p.Q394*|NUSAP1_ENST00000414849.2_Nonsense_Mutation_p.Q408*|NUSAP1_ENST00000450318.1_Nonsense_Mutation_p.Q370*|NUSAP1_ENST00000560177.1_Nonsense_Mutation_p.Q408*			Q9BXS6	NUSAP_HUMAN	nucleolar and spindle associated protein 1	409					establishment of mitotic spindle localization (GO:0040001)|mitotic chromosome condensation (GO:0007076)|mitotic cytokinesis (GO:0000281)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of mitosis (GO:0045840)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	13		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168)		ACCCCATCTCCAGACAAAGTA	0.333																																																0													16	14	15					15																	41669495		1771	4000	5771	SO:0001587	stop_gained	51203			AF290612	CCDS45234.1, CCDS45236.1, CCDS58356.1, CCDS58357.1, CCDS58358.1, CCDS73708.1	15q14	2008-02-05				ENSG00000137804			18538	protein-coding gene	gene with protein product		612818				12963707	Standard	NM_016359		Approved	FLJ13421, LNP, ANKT, NuSAP1, SAPL, BM037, PRO0310p1, Q0310	uc001zns.4	Q9BXS6		ENST00000559596.1:c.1225C>T	chr15.hg19:g.41669495C>T	ENSP00000453403:p.Gln409*		B4DDF1|E7ERR5|J3KN21|Q53GW2|Q8TBT4|Q96E58|Q96FJ1|Q9GZM9|Q9NZ85|Q9UI70	Nonsense_Mutation	SNP	ENST00000559596.1	hg19	CCDS45234.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.761477	0.49468	.	.	ENSG00000137804	ENST00000260359;ENST00000414849;ENST00000450318;ENST00000450592	.	.	.	5.65	4.71	0.59529	.	0.367085	0.31922	N	0.006860	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	12.8916	0.58073	0.1626:0.8374:0.0:0.0	.	.	.	.	X	409;408;370;346	.	ENSP00000260359:Q409X	Q	+	1	0	NUSAP1	39456787	1.000000	0.71417	0.756000	0.31282	0.567000	0.35839	2.988000	0.49386	1.561000	0.49584	0.655000	0.94253	CAG		0.333	NUSAP1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000419427.1	NM_016359		T	41669495	C	T	41669495	4	4	675	1	0	0	0	0	0	1	0	0	10780	595	21	2	1263	2	NUSAP1	15	41669495	Nonsense_Mutation	SNP	C	TCGA-HE-A5NJ-01A-11D-A26P-10		41669495	60861897	47	37192											
SHF	90525	hgsc.bcm.edu	37	15	45491143	45491143	+	Missense_Mutation	SNP	G	G	T			TCGA-HE-A5NJ-01A-11D-A26P-10	TCGA-HE-A5NJ-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9dbd55c-5dcc-48db-8785-6baef3fdd7db	de0653ad-a848-4f4b-b675-6cb625cb5167	g.chr15:45491143G>T	ENST00000290894.8	-	2	624	c.130C>A	c.(130-132)Cat>Aat	p.H44N	SHF_ENST00000318390.6_Missense_Mutation_p.H101N|RP11-519G16.2_ENST00000560034.1_RNA|CTD-2651B20.7_ENST00000568314.1_RNA|CTD-2651B20.6_ENST00000563103.1_RNA	NM_138356.2	NP_612365			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)		ATCCAGGAATGGGGCTGGGCG	0.632											OREG0023105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													50	54	53					15																	45491143		1969	4159	6128	SO:0001583	missense	90525			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	ENST00000290894.8:c.130C>A	chr15.hg19:g.45491143G>T	ENSP00000290894:p.His44Asn	932		Missense_Mutation	SNP	ENST00000290894.8	hg19	CCDS10120.2	.	.	.	.	.	.	.	.	.	.	G	11.94	1.788761	0.31685	.	.	ENSG00000138606	ENST00000290894;ENST00000361989;ENST00000318390	T;T	0.38240	1.57;1.15	3.04	-6.08	0.02151	.	7739.210000	0.00166	N	0.000000	T	0.23886	0.0578	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15578	-1.0432	10	0.37606	T	0.19	3.8664	8.6801	0.34203	0.0:0.4794:0.1588:0.3618	.	44	Q7M4L6	SHF_HUMAN	N	44;44;101	ENSP00000290894:H44N;ENSP00000315978:H101N	ENSP00000290894:H44N	H	-	1	0	SHF	43278435	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-1.536000	0.02208	-1.992000	0.00975	0.655000	0.94253	CAT		0.632	SHF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254141.2	NM_138356		T	45491143	G	T	45491143	3	4	675	1	0	0	0	0	1	0	0	0	14283	1348	47	4	1169	4	SHF	15	45491143	Missense_Mutation	SNP	G	TCGA-HE-A5NJ-01A-11D-A26P-10	3821648	45491143	57040249	48	37193											
C15orf39	56905	hgsc.bcm.edu	37	15	75499667	75499667	+	Silent	SNP	C	C	T			TCGA-HE-A5NJ-01A-11D-A26P-10	TCGA-HE-A5NJ-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9dbd55c-5dcc-48db-8785-6baef3fdd7db	de0653ad-a848-4f4b-b675-6cb625cb5167	g.chr15:75499667C>T	ENST00000360639.2	+	2	1598	c.1278C>T	c.(1276-1278)tgC>tgT	p.C426C	C15orf39_ENST00000567617.1_Silent_p.C426C|C15orf39_ENST00000394987.4_Silent_p.C426C			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	426						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						GCCAGCCCTGCTCAGAGCCTG	0.642																																																0													37	42	40					15																	75499667		2197	4295	6492	SO:0001819	synonymous_variant	56905			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.1278C>T	chr15.hg19:g.75499667C>T			B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	Silent	SNP	ENST00000360639.2	hg19	CCDS10276.1																																																																																				0.642	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286410.1	NM_015492		T	75499667	C	T	75499667	2	4	675	1	0	0	0	0	0	0	0	1	1795	805	28	2		2	C15orf39	15	75499667	Silent	SNP	C	TCGA-HE-A5NJ-01A-11D-A26P-10	30008524	75499667	27031725	49	37194											
CREBBP	1387	hgsc.bcm.edu	37	16	3901001	3901001	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NJ-01A-11D-A26P-10	TCGA-HE-A5NJ-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9dbd55c-5dcc-48db-8785-6baef3fdd7db	de0653ad-a848-4f4b-b675-6cb625cb5167	g.chr16:3901001G>A	ENST00000262367.5	-	2	904	c.95C>T	c.(94-96)tCa>tTa	p.S32L	CREBBP_ENST00000382070.3_Missense_Mutation_p.S32L	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	32					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GTCAAACAATGATCCAAAATC	0.403			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																																Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	0													55	54	55					16																	3901001		2195	4291	6486	SO:0001583	missense	1387			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.95C>T	chr16.hg19:g.3901001G>A	ENSP00000262367:p.Ser32Leu		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	hg19	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.054063	0.75960	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.86562	-2.14;-2.12	5.92	5.92	0.95590	.	0.086452	0.49916	D	0.000127	D	0.92172	0.7518	M	0.72894	2.215	0.80722	D	1	P;D	0.58620	0.949;0.983	P;P	0.57101	0.719;0.813	D	0.92259	0.5815	10	0.87932	D	0	-4.3311	20.3206	0.98668	0.0:0.0:1.0:0.0	.	100;32	Q4LE28;Q92793	.;CBP_HUMAN	L	32;100;32	ENSP00000262367:S32L;ENSP00000371502:S32L	ENSP00000262367:S32L	S	-	2	0	CREBBP	3841002	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.390000	0.79816	2.809000	0.96659	0.655000	0.94253	TCA		0.403	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		A	3901001	G	A	3901001	3	1	675	1	0	0	0	0	1	0	0	0	3863	1294	45	2	7353	2	CREBBP	16	3901001	Missense_Mutation	SNP	G	TCGA-HE-A5NJ-01A-11D-A26P-10		3901001	86453752	50	37195											
UBN1	29855	hgsc.bcm.edu	37	16	4908004	4908004	+	Missense_Mutation	SNP	C	C	T			TCGA-HE-A5NJ-01A-11D-A26P-10	TCGA-HE-A5NJ-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9dbd55c-5dcc-48db-8785-6baef3fdd7db	de0653ad-a848-4f4b-b675-6cb625cb5167	g.chr16:4908004C>T	ENST00000396658.4	+	2	966	c.263C>T	c.(262-264)tCa>tTa	p.S88L	UBN1_ENST00000590769.1_Missense_Mutation_p.S88L|UBN1_ENST00000545171.1_Missense_Mutation_p.S88L|UBN1_ENST00000262376.6_Missense_Mutation_p.S88L	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	88	Sufficient for interaction with HIRA.				chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						AAAGATCTGTCAGATCCTTTC	0.338																																																0													70	77	75					16																	4908004		2197	4300	6497	SO:0001583	missense	29855			AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.263C>T	chr16.hg19:g.4908004C>T	ENSP00000379894:p.Ser88Leu		B7Z6D3|D3DUE8|Q13079|Q9P1P7	Missense_Mutation	SNP	ENST00000396658.4	hg19	CCDS10525.1	.	.	.	.	.	.	.	.	.	.	C	10.11	1.260216	0.23051	.	.	ENSG00000118900	ENST00000262376;ENST00000545171;ENST00000396658	T;T;T	0.44083	1.51;0.93;1.51	5.37	-2.3	0.06785	.	1.211730	0.05673	N	0.589051	T	0.27313	0.0670	N	0.16266	0.395	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.26258	-1.0108	10	0.27785	T	0.31	1.4387	11.8692	0.52511	0.0:0.4651:0.0:0.5349	.	88;88	Q9NPG3-2;Q9NPG3	.;UBN1_HUMAN	L	88	ENSP00000262376:S88L;ENSP00000442379:S88L;ENSP00000379894:S88L	ENSP00000262376:S88L	S	+	2	0	UBN1	4848005	0.000000	0.05858	0.017000	0.16124	0.976000	0.68499	-1.157000	0.03157	-0.259000	0.09432	0.655000	0.94253	TCA		0.338	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	NM_016936		T	4908004	C	T	4908004	3	4	675	1	0	0	0	0	1	0	0	0	16897	838	29	2	269	2	UBN1	16	4908004	Missense_Mutation	SNP	C	TCGA-HE-A5NJ-01A-11D-A26P-10	1007003	4908004	85446749	51	37196											
DNAH3	55567	hgsc.bcm.edu	37	16	21051260	21051260	+	Missense_Mutation	SNP	C	C	A			TCGA-HE-A5NJ-01A-11D-A26P-10	TCGA-HE-A5NJ-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9dbd55c-5dcc-48db-8785-6baef3fdd7db	de0653ad-a848-4f4b-b675-6cb625cb5167	g.chr16:21051260C>A	ENST00000261383.3	-	33	4643	c.4644G>T	c.(4642-4644)ttG>ttT	p.L1548F	DNAH3_ENST00000415178.1_Missense_Mutation_p.L1548F	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1548	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)		CTGTCCGGAACAAGGCCTGGA	0.488																																																0													114	103	107					16																	21051260		2201	4300	6501	SO:0001583	missense	55567			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.4644G>T	chr16.hg19:g.21051260C>A	ENSP00000261383:p.Leu1548Phe		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	hg19	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	c	19.21	3.783406	0.70222	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.40756	1.02;1.02	5.48	-3.63	0.04529	ATPase, AAA+ type, core (1);	0.000000	0.64402	D	0.000008	T	0.71787	0.3381	H	0.98048	4.135	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76408	-0.2970	10	0.87932	D	0	.	11.9329	0.52857	0.0:0.4256:0.0:0.5744	.	1548	Q8TD57	DYH3_HUMAN	F	1548	ENSP00000261383:L1548F;ENSP00000394245:L1548F	ENSP00000261383:L1548F	L	-	3	2	DNAH3	20958761	0.014000	0.17966	0.915000	0.36163	0.963000	0.63663	-0.900000	0.04097	-0.896000	0.03915	-0.753000	0.03488	TTG		0.488	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		A	21051260	C	A	21051260	3	1	675	1	0	0	0	0	1	0	0	0	4605	477	17	4	7825	4	DNAH3	16	21051260	Missense_Mutation	SNP	C	TCGA-HE-A5NJ-01A-11D-A26P-10	16143256	21051260	69303493	52	37197											
MBTPS1	8720	hgsc.bcm.edu	37	16	84094306	84094306	+	Silent	SNP	G	G	C			TCGA-HE-A5NJ-01A-11D-A26P-10	TCGA-HE-A5NJ-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9dbd55c-5dcc-48db-8785-6baef3fdd7db	de0653ad-a848-4f4b-b675-6cb625cb5167	g.chr16:84094306G>C	ENST00000343411.3	-	20	3180	c.2685C>G	c.(2683-2685)gtC>gtG	p.V895V		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	895					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						TCTCTGGAGTGACTGAGCCTG	0.592																																																0													65	53	57					16																	84094306		2200	4300	6500	SO:0001819	synonymous_variant	8720			D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"membrane-bound transcription factor protease, site 1"			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.2685C>G	chr16.hg19:g.84094306G>C			A8K6V8|Q24JQ2|Q9UF67	Silent	SNP	ENST00000343411.3	hg19	CCDS10941.1																																																																																				0.592	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	NM_003791		C	84094306	G	C	84094306	2	2	675	1	0	0	0	0	0	0	0	1	9363	1277	45	4		4	MBTPS1	16	84094306	Silent	SNP	G	TCGA-HE-A5NJ-01A-11D-A26P-10	63043046	84094306	6260447	53	37198											
ZCCHC14	23174	hgsc.bcm.edu	37	16	87445209	87445209	+	Missense_Mutation	SNP	T	T	A			TCGA-HE-A5NJ-01A-11D-A26P-10	TCGA-HE-A5NJ-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9dbd55c-5dcc-48db-8785-6baef3fdd7db	de0653ad-a848-4f4b-b675-6cb625cb5167	g.chr16:87445209T>A	ENST00000268616.4	-	12	2924	c.2707A>T	c.(2707-2709)Agc>Tgc	p.S903C		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	903							nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		AGGTTCCCGCTCTTTTTGTGA	0.597																																																0													85	74	78					16																	87445209		2198	4300	6498	SO:0001583	missense	23174			AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"Zinc fingers, CCHC domain containing", "Sterile alpha motif (SAM) domain containing"	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.2707A>T	chr16.hg19:g.87445209T>A	ENSP00000268616:p.Ser903Cys		D3DUN1|O60324|Q3MJD8|Q9UFP0	Missense_Mutation	SNP	ENST00000268616.4	hg19	CCDS10961.1	.	.	.	.	.	.	.	.	.	.	T	14.84	2.654553	0.47467	.	.	ENSG00000140948	ENST00000268616	T	0.76968	-1.06	5.55	5.55	0.83447	.	0.169858	0.53938	D	0.000059	T	0.79375	0.4435	L	0.27053	0.805	0.33555	D	0.596683	D;D	0.67145	0.996;0.993	P;P	0.59288	0.855;0.72	D	0.85907	0.1438	10	0.87932	D	0	-19.183	15.975	0.80057	0.0:0.0:0.0:1.0	.	903;903	Q8WYQ9-2;Q8WYQ9	.;ZCH14_HUMAN	C	903	ENSP00000268616:S903C	ENSP00000268616:S903C	S	-	1	0	ZCCHC14	86002710	0.998000	0.40836	0.998000	0.56505	0.927000	0.56198	1.668000	0.37481	2.223000	0.72356	0.533000	0.62120	AGC		0.597	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	NM_015144		A	87445209	T	A	87445209	3	1	675	1	0	0	0	0	1	0	0	0	17588	1551	54	5	150	5	ZCCHC14	16	87445209	Missense_Mutation	SNP	T	TCGA-HE-A5NJ-01A-11D-A26P-10	3350903	87445209	2909544	54	37199											
FXR2	9513	hgsc.bcm.edu	37	17	7497319	7497319	+	Missense_Mutation	SNP	T	T	G			TCGA-HE-A5NJ-01A-11D-A26P-10	TCGA-HE-A5NJ-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9dbd55c-5dcc-48db-8785-6baef3fdd7db	de0653ad-a848-4f4b-b675-6cb625cb5167	g.chr17:7497319T>G	ENST00000250113.7	-	11	1358	c.1024A>C	c.(1024-1026)Atg>Ctg	p.M342L	FXR2_ENST00000573057.1_5'Flank	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	342						cytoplasm (GO:0005737)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		AAGGGAACCATTCCCTAGAGA	0.532																																																0													60	59	59					17																	7497319		1905	4126	6031	SO:0001583	missense	9513			U31501	CCDS45604.1	17p13.3	2014-09-17				ENSG00000129245			4024	protein-coding gene	gene with protein product		605339		FMR1L2		7489725, 9259278	Standard	NM_004860		Approved		uc002gia.2	P51116		ENST00000250113.7:c.1024A>C	chr17.hg19:g.7497319T>G	ENSP00000250113:p.Met342Leu		B2R9M2|D3DTQ1|Q86V09|Q8WUM2	Missense_Mutation	SNP	ENST00000250113.7	hg19	CCDS45604.1	.	.	.	.	.	.	.	.	.	.	T	9.196	1.027335	0.19512	.	.	ENSG00000129245	ENST00000250113	T	0.27720	1.65	5.52	5.52	0.82312	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.122387	0.64402	D	0.000001	T	0.18299	0.0439	N	0.12746	0.255	0.42425	D	0.992651	B	0.06786	0.001	B	0.09377	0.004	T	0.08932	-1.0698	10	0.22706	T	0.39	1.2613	13.6401	0.62246	0.0:0.0:0.0:1.0	.	342	P51116	FXR2_HUMAN	L	342	ENSP00000250113:M342L	ENSP00000250113:M342L	M	-	1	0	FXR2	7438044	1.000000	0.71417	1.000000	0.80357	0.081000	0.17604	5.842000	0.69417	2.317000	0.78254	0.460000	0.39030	ATG		0.532	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441084.1			G	7497319	T	G	7497319	3	3	675	1	0	0	0	0	1	0	0	0	6118	1493	52	5	925	5	FXR2	17	7497319	Missense_Mutation	SNP	T	TCGA-HE-A5NJ-01A-11D-A26P-10		7497319	73697891	55	37200											
MYH4	4622	hgsc.bcm.edu	37	17	10366950	10366950	+	Missense_Mutation	SNP	T	T	G			TCGA-HE-A5NJ-01A-11D-A26P-10	TCGA-HE-A5NJ-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9dbd55c-5dcc-48db-8785-6baef3fdd7db	de0653ad-a848-4f4b-b675-6cb625cb5167	g.chr17:10366950T>G	ENST00000255381.2	-	8	769	c.659A>C	c.(658-660)gAa>gCa	p.E220A	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	220	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						GATTTGATCTTCAAGGGTCCC	0.448																																																0													73	73	73					17																	10366950		2203	4300	6503	SO:0001583	missense	4622				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.659A>C	chr17.hg19:g.10366950T>G	ENSP00000255381:p.Glu220Ala			Missense_Mutation	SNP	ENST00000255381.2	hg19	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.567354	0.86439	.	.	ENSG00000141048	ENST00000255381	D	0.89050	-2.46	5.14	5.14	0.70334	Myosin head, motor domain (2);	0.000000	0.38005	U	0.001849	D	0.96503	0.8859	H	0.97707	4.06	0.80722	D	1	D	0.63880	0.993	D	0.77557	0.99	D	0.97990	1.0354	10	0.87932	D	0	.	15.2278	0.73364	0.0:0.0:0.0:1.0	.	220	Q9Y623	MYH4_HUMAN	A	220	ENSP00000255381:E220A	ENSP00000255381:E220A	E	-	2	0	MYH4	10307675	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.966000	0.87956	2.052000	0.61016	0.455000	0.32223	GAA		0.448	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		G	10366950	T	G	10366950	3	3	675	1	0	0	0	0	1	0	0	0	10039	1783	62	5	5292	5	MYH4	17	10366950	Missense_Mutation	SNP	T	TCGA-HE-A5NJ-01A-11D-A26P-10	2869631	10366950	70828260	56	37201											
STAC2	342667	hgsc.bcm.edu	37	17	37373422	37373422	+	Silent	SNP	G	G	A			TCGA-HE-A5NJ-01A-11D-A26P-10	TCGA-HE-A5NJ-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9dbd55c-5dcc-48db-8785-6baef3fdd7db	de0653ad-a848-4f4b-b675-6cb625cb5167	g.chr17:37373422G>A	ENST00000333461.5	-	3	771	c.402C>T	c.(400-402)aaC>aaT	p.N134N		NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2	134					intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						CCTGTTTGGAGTTTCCTAGGA	0.562																																																0													59	56	57					17																	37373422		2203	4300	6503	SO:0001819	synonymous_variant	342667			AJ608762	CCDS11335.1	17q21.2	2012-11-19			ENSG00000141750	ENSG00000141750			23990	protein-coding gene	gene with protein product							Standard	NM_198993		Approved	24b2	uc002hrs.3	Q6ZMT1	OTTHUMG00000179039	ENST00000333461.5:c.402C>T	chr17.hg19:g.37373422G>A			Q32MA3	Silent	SNP	ENST00000333461.5	hg19	CCDS11335.1																																																																																				0.562	STAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444533.2	NM_198993		A	37373422	G	A	37373422	2	1	675	1	0	0	0	0	0	0	0	1	15245	1020	36	2		2	STAC2	17	37373422	Silent	SNP	G	TCGA-HE-A5NJ-01A-11D-A26P-10	27006472	37373422	43821788	57	37202											
PPM1E	22843	hgsc.bcm.edu	37	17	56833454	56833454	+	Silent	SNP	G	G	A	rs77856248		TCGA-HE-A5NJ-01A-11D-A26P-10	TCGA-HE-A5NJ-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9dbd55c-5dcc-48db-8785-6baef3fdd7db	de0653ad-a848-4f4b-b675-6cb625cb5167	g.chr17:56833454G>A	ENST00000308249.2	+	1	225	c.96G>A	c.(94-96)gaG>gaA	p.E32E		NM_014906.4	NP_055721.3	Q96MI6	PPM1M_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	0	PP2C-like.				protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|manganese ion binding (GO:0030145)			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			Gcgagccggagccggaacccg	0.667																																																0													14	20	18					17																	56833454		2185	4284	6469	SO:0001819	synonymous_variant	22843			AB028995	CCDS11613.1	17q24.2	2012-04-17	2010-03-05		ENSG00000175175	ENSG00000175175		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	19322	protein-coding gene	gene with protein product	"partner of PIX 1", "nuclear calmodulin-dependent protein kinase phosphatase"		"protein phosphatase 1E (PP2C domain containing)"			11864573, 10470851	Standard	NR_048561		Approved	POPX1, KIAA1072, PP2CH, CaMKP-N	uc002iwx.4	Q8WY54		ENST00000308249.2:c.96G>A	chr17.hg19:g.56833454G>A			Q8N8J9|Q96DB8	Silent	SNP	ENST00000308249.2	hg19	CCDS11613.1																																																																																				0.667	PPM1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445458.1	NM_014906		A	56833454	G	A	56833454	2	1	675	1	0	0	0	0	0	0	0	1	12343	962	34	2		2	PPM1E	17	56833454	Silent	SNP	G	TCGA-HE-A5NJ-01A-11D-A26P-10	19460032	56833454	24361756	58	37203	277	2									
PPM1E	22843	hgsc.bcm.edu	37	17	56833457	56833457	+	Silent	SNP	G	G	C	rs3834568|rs201186780|rs74256772	byFrequency	TCGA-HE-A5NJ-01A-11D-A26P-10	TCGA-HE-A5NJ-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9dbd55c-5dcc-48db-8785-6baef3fdd7db	de0653ad-a848-4f4b-b675-6cb625cb5167	g.chr17:56833457G>C	ENST00000308249.2	+	1	228	c.99G>C	c.(97-99)ccG>ccC	p.P33P		NM_014906.4	NP_055721.3	Q96MI6	PPM1M_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	0	PP2C-like.				protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|manganese ion binding (GO:0030145)			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			agccggagccggaacccgaac	0.672																																																0													14	20	18					17																	56833457		2188	4284	6472	SO:0001819	synonymous_variant	22843			AB028995	CCDS11613.1	17q24.2	2012-04-17	2010-03-05		ENSG00000175175	ENSG00000175175		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	19322	protein-coding gene	gene with protein product	"partner of PIX 1", "nuclear calmodulin-dependent protein kinase phosphatase"		"protein phosphatase 1E (PP2C domain containing)"			11864573, 10470851	Standard	NR_048561		Approved	POPX1, KIAA1072, PP2CH, CaMKP-N	uc002iwx.4	Q8WY54		ENST00000308249.2:c.99G>C	chr17.hg19:g.56833457G>C			Q8N8J9|Q96DB8	Silent	SNP	ENST00000308249.2	hg19	CCDS11613.1																																																																																				0.672	PPM1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445458.1	NM_014906		C	56833457	G	C	56833457	2	2	675	1	0	0	0	0	0	0	0	1	12343	1103	39	4		4	PPM1E	17	56833457	Silent	SNP	G	TCGA-HE-A5NJ-01A-11D-A26P-10	3	56833457	24361753	59	37204	277	2									
NEDD4L	23327	hgsc.bcm.edu	37	18	56033337	56033337	+	Missense_Mutation	SNP	G	G	C			TCGA-HE-A5NJ-01A-11D-A26P-10	TCGA-HE-A5NJ-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9dbd55c-5dcc-48db-8785-6baef3fdd7db	de0653ad-a848-4f4b-b675-6cb625cb5167	g.chr18:56033337G>C	ENST00000400345.3	+	21	2223	c.1940G>C	c.(1939-1941)aGa>aCa	p.R647T	NEDD4L_ENST00000256832.7_Missense_Mutation_p.R507T|NEDD4L_ENST00000356462.6_Missense_Mutation_p.R583T|NEDD4L_ENST00000456986.1_Missense_Mutation_p.R526T|NEDD4L_ENST00000256830.9_Missense_Mutation_p.R543T|NEDD4L_ENST00000431212.2_Missense_Mutation_p.R526T|NEDD4L_ENST00000586263.1_Missense_Mutation_p.R619T|NEDD4L_ENST00000357895.5_Missense_Mutation_p.R639T|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000382850.4_Missense_Mutation_p.R627T|NEDD4L_ENST00000435432.2_Missense_Mutation_p.R506T|NEDD4L_ENST00000456173.2_Missense_Mutation_p.R506T	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	647	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cellular sodium ion homeostasis (GO:0006883)|excretion (GO:0007588)|gene expression (GO:0010467)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of systemic arterial blood pressure (GO:0003085)|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 cation channel activity (GO:2001259)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of sodium ion transport (GO:0010765)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|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 depolarization (GO:0003254)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of protein catabolic process (GO:0042176)|regulation of tight junction assembly (GO:2000810)|response to metal ion (GO:0010038)|response to salt stress (GO:0009651)|sodium ion transport (GO:0006814)|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)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|ventricular cardiac muscle cell action potential (GO:0086005)|viral life cycle (GO:0019058)|viral process (GO:0016032)|water homeostasis (GO:0030104)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ion channel binding (GO:0044325)|ligase activity (GO:0016874)|potassium channel inhibitor activity (GO:0019870)|potassium channel regulator activity (GO:0015459)|sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						CTAAAAGCTAGACTGTGGATT	0.408																																																0													122	114	117					18																	56033337		1867	4102	5969	SO:0001583	missense	23327			AF210730	CCDS45872.1, CCDS45873.1, CCDS45874.1, CCDS45875.1, CCDS45876.1, CCDS58632.1, CCDS59323.1	18q21.31	2014-08-12	2012-02-23		ENSG00000049759				7728	protein-coding gene	gene with protein product		606384	"neural precursor cell expressed, developmentally down-regulated 4-like"			10594025, 11244092, 18322022	Standard	NM_001144965		Approved	KIAA0439, RSP5, NEDD4-2	uc002lgy.3	Q96PU5	OTTHUMG00000179875	ENST00000400345.3:c.1940G>C	chr18.hg19:g.56033337G>C	ENSP00000383199:p.Arg647Thr		O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	Missense_Mutation	SNP	ENST00000400345.3	hg19	CCDS45872.1	.	.	.	.	.	.	.	.	.	.	G	30	5.052900	0.93793	.	.	ENSG00000049759	ENST00000400345;ENST00000382850;ENST00000356462;ENST00000256830;ENST00000256832;ENST00000456986;ENST00000357895;ENST00000435432;ENST00000456173;ENST00000431212	T;T;T;T;T;T;T;T;T;T	0.75938	0.97;0.97;0.97;0.97;-0.98;-0.98;0.97;-0.98;-0.98;-0.98	5.54	5.54	0.83059	HECT (3);	0.000000	0.85682	D	0.000000	D	0.86727	0.6002	M	0.76574	2.34	0.80722	D	1	D;D;D;D;D;D	0.76494	0.999;0.999;0.966;0.985;0.999;0.999	D;D;P;D;D;D	0.77004	0.989;0.985;0.574;0.955;0.977;0.985	D	0.87407	0.2373	10	0.87932	D	0	.	19.8487	0.96730	0.0:0.0:1.0:0.0	.	619;639;506;583;647;627	Q96PU5-6;Q96PU5-7;Q3LSM7;Q96PU5-2;Q96PU5;Q96PU5-5	.;.;.;.;NED4L_HUMAN;.	T	647;627;583;543;507;526;639;506;506;526	ENSP00000383199:R647T;ENSP00000372301:R627T;ENSP00000348847:R583T;ENSP00000256830:R543T;ENSP00000256832:R507T;ENSP00000411947:R526T;ENSP00000350569:R639T;ENSP00000393395:R506T;ENSP00000405440:R506T;ENSP00000389406:R526T	ENSP00000256830:R543T	R	+	2	0	NEDD4L	54184317	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.813000	0.99286	2.748000	0.94277	0.650000	0.86243	AGA		0.408	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448749.1			C	56033337	G	C	56033337	3	2	675	1	0	0	0	0	1	0	0	0	10313	942	33	4	2050	4	NEDD4L	18	56033337	Missense_Mutation	SNP	G	TCGA-HE-A5NJ-01A-11D-A26P-10		56033337	22043911	60	37205											
LPPR3	79948	hgsc.bcm.edu	37	19	815207	815207	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NJ-01A-11D-A26P-10	TCGA-HE-A5NJ-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9dbd55c-5dcc-48db-8785-6baef3fdd7db	de0653ad-a848-4f4b-b675-6cb625cb5167	g.chr19:815207G>A	ENST00000520876.3	-	4	460	c.382C>T	c.(382-384)Cgg>Tgg	p.R128W	MIR3187_ENST00000583431.1_RNA|LPPR3_ENST00000359894.2_Missense_Mutation_p.R128W	NM_001270366.1	NP_001257295.1	Q6T4P5	LPPR3_HUMAN		128						integral component of membrane (GO:0016021)	phosphatidate phosphatase activity (GO:0008195)										ACCGTACGCCGCAGGAAGGAG	0.716																																																0													23	28	26					19																	815207		2181	4286	6467	SO:0001583	missense	0																														ENST00000520876.3:c.382C>T	chr19.hg19:g.815207G>A	ENSP00000430297:p.Arg128Trp		Q86XQ4|Q96EH1|Q9BQF9|Q9HAJ4	Missense_Mutation	SNP	ENST00000520876.3	hg19	CCDS58636.1	.	.	.	.	.	.	.	.	.	.	G	19.24	3.790052	0.70337	.	.	ENSG00000129951	ENST00000300947;ENST00000359894;ENST00000520876;ENST00000521445	T;T	0.52526	0.66;0.66	4.33	3.27	0.37495	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.000000	0.85682	U	0.000000	T	0.68339	0.2990	M	0.82517	2.595	0.52501	D	0.999955	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.71712	-0.4510	10	0.87932	D	0	-9.9087	11.2342	0.48931	0.0:0.0:0.8149:0.1851	.	128;128;128	Q6T4P5-2;Q6T4P5;Q6T4P5-3	.;LPPR3_HUMAN;.	W	128	ENSP00000352962:R128W;ENSP00000430297:R128W	ENSP00000300947:R128W	R	-	1	2	AC006273.1	766207	0.599000	0.26891	0.997000	0.53966	0.459000	0.32528	0.345000	0.19979	0.788000	0.33755	0.462000	0.41574	CGG		0.716	LPPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379096.3			A	815207	G	A	815207	3	1	675	1	0	0	0	0	1	0	0	0	8928	1086	38	1	1874	1	LPPR3	19	815207	Missense_Mutation	SNP	G	TCGA-HE-A5NJ-01A-11D-A26P-10		815207	58313776	61	37206											
ZNF57	126295	hgsc.bcm.edu	37	19	2915555	2915555	+	Silent	SNP	C	C	T			TCGA-HE-A5NJ-01A-11D-A26P-10	TCGA-HE-A5NJ-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9dbd55c-5dcc-48db-8785-6baef3fdd7db	de0653ad-a848-4f4b-b675-6cb625cb5167	g.chr19:2915555C>T	ENST00000306908.5	+	2	187	c.39C>T	c.(37-39)ttC>ttT	p.F13F	AC006277.2_ENST00000520090.2_RNA|ZNF57_ENST00000523428.1_5'UTR	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	13	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)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGTGGACTTCACCCTGGAGG	0.542																																					NSCLC(150;910 1964 4303 10464 26498)											0													160	141	147					19																	2915555		2203	4300	6503	SO:0001819	synonymous_variant	126295			M88368	CCDS12098.1	19p13.3	2013-01-08			ENSG00000171970	ENSG00000171970		"Zinc fingers, C2H2-type", "-"	13125	protein-coding gene	gene with protein product			"zinc finger protein 424"	ZNF424		1505991	Standard	NM_173480		Approved		uc002lwr.3	Q68EA5	OTTHUMG00000164485	ENST00000306908.5:c.39C>T	chr19.hg19:g.2915555C>T			Q8N6R9	Silent	SNP	ENST00000306908.5	hg19	CCDS12098.1																																																																																				0.542	ZNF57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378969.1	NM_173480		T	2915555	C	T	2915555	2	4	675	1	0	0	0	0	0	0	0	1	18006	825	29	2		2	ZNF57	19	2915555	Silent	SNP	C	TCGA-HE-A5NJ-01A-11D-A26P-10	2100348	2915555	56213428	62	37207											
ZFR2	23217	hgsc.bcm.edu	37	19	3808936	3808936	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NJ-01A-11D-A26P-10	TCGA-HE-A5NJ-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9dbd55c-5dcc-48db-8785-6baef3fdd7db	de0653ad-a848-4f4b-b675-6cb625cb5167	g.chr19:3808936G>A	ENST00000262961.4	-	17	2489	c.2479C>T	c.(2479-2481)Ccc>Tcc	p.P827S		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	827	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.						nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		GGGCCCAGGGGCCCAGCCGCA	0.697																																																0													10	15	14					19																	3808936		2017	4182	6199	SO:0001583	missense	23217			AB029009	CCDS45921.1, CCDS45922.1	19p13.3	2012-10-05	2008-03-25	2008-03-25	ENSG00000105278	ENSG00000105278			29189	protein-coding gene	gene with protein product			"KIAA1086"	KIAA1086		10470851	Standard	NM_015174		Approved		uc002lyw.2	Q9UPR6	OTTHUMG00000180918	ENST00000262961.4:c.2479C>T	chr19.hg19:g.3808936G>A	ENSP00000262961:p.Pro827Ser			Missense_Mutation	SNP	ENST00000262961.4	hg19	CCDS45921.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.588474	0.46110	.	.	ENSG00000105278	ENST00000262961	T	0.42131	0.98	3.97	3.97	0.46021	DZF (2);	0.084158	0.48767	U	0.000179	T	0.62962	0.2471	M	0.81112	2.525	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.65668	-0.6112	10	0.48119	T	0.1	-16.1842	11.3964	0.49845	0.0:0.0:1.0:0.0	.	827	Q9UPR6	ZFR2_HUMAN	S	827	ENSP00000262961:P827S	ENSP00000262961:P827S	P	-	1	0	ZFR2	3759936	1.000000	0.71417	0.677000	0.29947	0.009000	0.06853	5.975000	0.70475	2.053000	0.61076	0.484000	0.47621	CCC		0.697	ZFR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453648.2	NM_015174		A	3808936	G	A	3808936	3	1	675	1	0	0	0	0	1	0	0	0	17665	1203	42	2	352	2	ZFR2	19	3808936	Missense_Mutation	SNP	G	TCGA-HE-A5NJ-01A-11D-A26P-10	893381	3808936	55320047	63	37208											
IL27RA	9466	hgsc.bcm.edu	37	19	14150421	14150421	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NJ-01A-11D-A26P-10	TCGA-HE-A5NJ-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9dbd55c-5dcc-48db-8785-6baef3fdd7db	de0653ad-a848-4f4b-b675-6cb625cb5167	g.chr19:14150421G>A	ENST00000263379.2	+	3	445	c.320G>A	c.(319-321)gGc>gAc	p.G107D		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	107					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						CTTGTCTGGGGCACTAAGGCA	0.612																																					Colon(164;1849 1896 4443 37792 47834)											0													66	61	63					19																	14150421		2203	4300	6503	SO:0001583	missense	9466			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.320G>A	chr19.hg19:g.14150421G>A	ENSP00000263379:p.Gly107Asp		A0N0L1|O60624	Missense_Mutation	SNP	ENST00000263379.2	hg19	CCDS12303.1	.	.	.	.	.	.	.	.	.	.	G	13.70	2.314782	0.40996	.	.	ENSG00000104998	ENST00000263379	T	0.61627	0.09	4.54	-2.12	0.07165	.	0.705821	0.12338	N	0.477779	T	0.46073	0.1374	L	0.32530	0.975	0.09310	N	0.999991	P	0.52316	0.952	P	0.49140	0.601	T	0.43718	-0.9374	10	0.23891	T	0.37	-20.1299	7.3547	0.26713	0.0:0.2745:0.2642:0.4613	.	107	Q6UWB1	I27RA_HUMAN	D	107	ENSP00000263379:G107D	ENSP00000263379:G107D	G	+	2	0	IL27RA	14011421	0.006000	0.16342	0.097000	0.21041	0.288000	0.27193	-0.354000	0.07681	-0.030000	0.13804	0.555000	0.69702	GGC		0.612	IL27RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458539.1	NM_004843		A	14150421	G	A	14150421	3	1	675	1	0	0	0	0	1	0	0	0	7683	1203	42	2	330	2	IL27RA	19	14150421	Missense_Mutation	SNP	G	TCGA-HE-A5NJ-01A-11D-A26P-10	10341485	14150421	44978562	64	37209											
MYO9B	4650	hgsc.bcm.edu	37	19	17322846	17322846	+	Silent	SNP	G	G	A			TCGA-HE-A5NJ-01A-11D-A26P-10	TCGA-HE-A5NJ-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9dbd55c-5dcc-48db-8785-6baef3fdd7db	de0653ad-a848-4f4b-b675-6cb625cb5167	g.chr19:17322846G>A	ENST00000594824.1	+	40	6348	c.6201G>A	c.(6199-6201)acG>acA	p.T2067T	MYO9B_ENST00000397274.2_3'UTR|MYO9B_ENST00000595618.1_3'UTR			Q13459	MYO9B_HUMAN	myosin IXB	2067	Tail.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						TCATGCCCACGGCCAACATCA	0.736																																																0													9	11	10					19																	17322846		1808	4035	5843	SO:0001819	synonymous_variant	4650				CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"Myosins / Myosin superfamily : Class IX"	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.6201G>A	chr19.hg19:g.17322846G>A			O75314|Q9NUJ2|Q9UHN0	Silent	SNP	ENST00000594824.1	hg19																																																																																					0.736	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			A	17322846	G	A	17322846	2	1	675	1	0	0	0	0	0	0	0	1	10087	1103	39	1		1	MYO9B	19	17322846	Silent	SNP	G	TCGA-HE-A5NJ-01A-11D-A26P-10	3172425	17322846	41806137	65	37210											
USF2	7392	hgsc.bcm.edu	37	19	35761401	35761402	+	In_Frame_Ins	INS	-	-	TCAGCGGGGAGGCACGATTTGCCT			TCGA-HE-A5NJ-01A-11D-A26P-10	TCGA-HE-A5NJ-10A-01D-A26P-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9dbd55c-5dcc-48db-8785-6baef3fdd7db	de0653ad-a848-4f4b-b675-6cb625cb5167	g.chr19:35761401_35761402insTCAGCGGGGAGGCACGATTTGCCT	ENST00000222305.3	+	5	518_519	c.481_482insTCAGCGGGGAGGCACGATTTGCCT	c.(481-483)gtc>gTCAGCGGGGAGGCACGATTTGCCTtc	p.161_162insSGEARFAF	USF2_ENST00000595068.1_In_Frame_Ins_p.161_162insSGEARFAF|USF2_ENST00000343550.5_In_Frame_Ins_p.94_95insSGEARFAF|USF2_ENST00000594064.1_In_Frame_Ins_p.159_160insSGEARFAF|USF2_ENST00000379134.3_Intron	NM_003367.2	NP_003358.1	Q15853	USF2_HUMAN	upstream transcription factor 2, c-fos interacting	161					lactation (GO:0007595)|late viral transcription (GO:0019086)|lipid homeostasis (GO:0055088)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|regulation of transcription from RNA polymerase II promoter by glucose (GO:0000430)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|double-stranded DNA binding (GO:0003690)|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 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)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|urinary_tract(1)	13	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GGCCGAGGCTGTCAGCGGGGAG	0.589																																					NSCLC(103;173 2832 8890)											0																																										SO:0001652	inframe_insertion	7392			AY007087	CCDS12452.1, CCDS12453.1	19q13	2013-05-21				ENSG00000105698		"Basic helix-loop-helix proteins"	12594	protein-coding gene	gene with protein product		600390				8954795	Standard	NM_003367		Approved	FIP, bHLHb12	uc002nyq.1	Q15853		ENST00000222305.3:c.482_505dupTCAGCGGGGAGGCACGATTTGCCT	chr19.hg19:g.35761401_35761402insTCAGCGGGGAGGCACGATTTGCCT	ENSP00000222305:p.Val161_Ser162insSerGlyGluAlaArgPheAlaPhe		O00671|O00709|Q05750|Q07952|Q15851|Q15852|Q6FI33|Q6YI47	In_Frame_Ins	INS	ENST00000222305.3	hg19	CCDS12452.1																																																																																				0.589	USF2-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466056.1	NM_003367		TCAGCGGGGAGGCACGATTTGCCT	35761402	-	TCAGCGGGGAGGCACGATTTGCCT	35761401	7	5	675	1	0	1	1	0	0	0	0	0	17038	1377	48	0	499	0	USF2	19	35761401	In_Frame_Ins	INS	-	TCGA-HE-A5NJ-01A-11D-A26P-10	18438555	35761401	23367582	66	37211											
MAP3K10	4294	hgsc.bcm.edu	37	19	40698281	40698281	+	Missense_Mutation	SNP	G	G	T			TCGA-HE-A5NJ-01A-11D-A26P-10	TCGA-HE-A5NJ-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9dbd55c-5dcc-48db-8785-6baef3fdd7db	de0653ad-a848-4f4b-b675-6cb625cb5167	g.chr19:40698281G>T	ENST00000253055.3	+	1	631	c.343G>T	c.(343-345)Gcc>Tcc	p.A115S	MAP3K10_ENST00000593906.1_3'UTR	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	115	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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						GGTCTATCGGGCCCTGTGGCG	0.687																																																0													33	38	36					19																	40698281		2202	4298	6500	SO:0001583	missense	4294			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.343G>T	chr19.hg19:g.40698281G>T	ENSP00000253055:p.Ala115Ser		Q12761|Q14871	Missense_Mutation	SNP	ENST00000253055.3	hg19	CCDS12549.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.976122	0.92982	.	.	ENSG00000130758	ENST00000253055	D	0.84944	-1.92	4.3	4.3	0.51218	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.207947	0.38897	N	0.001532	D	0.89223	0.6654	M	0.63428	1.95	0.39678	D	0.970865	P	0.51933	0.949	P	0.58660	0.843	D	0.91138	0.4943	10	0.87932	D	0	.	14.3128	0.66426	0.0:0.0:1.0:0.0	.	115	Q02779	M3K10_HUMAN	S	115	ENSP00000253055:A115S	ENSP00000253055:A115S	A	+	1	0	MAP3K10	45390121	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.646000	0.98474	2.232000	0.73038	0.655000	0.94253	GCC		0.687	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462552.1	NM_002446		T	40698281	G	T	40698281	3	4	675	1	0	0	0	0	1	0	0	0	9246	1203	42	4	345	4	MAP3K10	19	40698281	Missense_Mutation	SNP	G	TCGA-HE-A5NJ-01A-11D-A26P-10	4936880	40698281	18430702	67	37212											
ZNF221	7638	hgsc.bcm.edu	37	19	44471195	44471195	+	Missense_Mutation	SNP	G	G	C			TCGA-HE-A5NJ-01A-11D-A26P-10	TCGA-HE-A5NJ-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9dbd55c-5dcc-48db-8785-6baef3fdd7db	de0653ad-a848-4f4b-b675-6cb625cb5167	g.chr19:44471195G>C	ENST00000251269.5	+	6	1869	c.1541G>C	c.(1540-1542)aGa>aCa	p.R514T	ZNF221_ENST00000587682.1_Missense_Mutation_p.R514T|ZNF221_ENST00000592350.1_Missense_Mutation_p.R514T	NM_013359.2	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	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)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				TGTGGAAAGAGATTTACTCAG	0.428																																																0													94	89	91					19																	44471195		2203	4300	6503	SO:0001583	missense	7638			AF187987	CCDS12633.1	19q13.31	2013-01-08				ENSG00000159905		"Zinc fingers, C2H2-type", "-"	13014	protein-coding gene	gene with protein product							Standard	NM_013359		Approved		uc002oxx.2	Q9UK13		ENST00000251269.5:c.1541G>C	chr19.hg19:g.44471195G>C	ENSP00000251269:p.Arg514Thr		B2RAI6|Q2M2H2|Q9P1U8	Missense_Mutation	SNP	ENST00000251269.5	hg19	CCDS12633.1	.	.	.	.	.	.	.	.	.	.	g	12.16	1.853235	0.32699	.	.	ENSG00000159905	ENST00000251269	T	0.16597	2.33	2.63	-1.52	0.08637	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10895	0.0266	N	0.11870	0.19	0.09310	N	1	P	0.51240	0.943	P	0.48873	0.593	T	0.25152	-1.0140	9	0.38643	T	0.18	.	5.5077	0.16864	0.1145:0.0:0.5338:0.3517	.	514	Q9UK13	ZN221_HUMAN	T	514	ENSP00000251269:R514T	ENSP00000251269:R514T	R	+	2	0	ZNF221	49163035	0.000000	0.05858	0.000000	0.03702	0.888000	0.51559	0.114000	0.15520	-0.005000	0.14395	0.313000	0.20887	AGA		0.428	ZNF221-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460068.1			C	44471195	G	C	44471195	3	2	675	1	0	0	0	0	1	0	0	0	17780	942	33	4	1555	4	ZNF221	19	44471195	Missense_Mutation	SNP	G	TCGA-HE-A5NJ-01A-11D-A26P-10	3772914	44471195	14657788	68	37213											
SEPT5	5413	hgsc.bcm.edu	37	22	19709430	19709430	+	Silent	SNP	C	C	T			TCGA-HE-A5NJ-01A-11D-A26P-10	TCGA-HE-A5NJ-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9dbd55c-5dcc-48db-8785-6baef3fdd7db	de0653ad-a848-4f4b-b675-6cb625cb5167	g.chr22:19709430C>T	ENST00000455784.2	+	10	1025	c.900C>T	c.(898-900)tgC>tgT	p.C300C	SEPT5_ENST00000438754.2_Nonsense_Mutation_p.R306*|GP1BB_ENST00000366425.3_5'Flank|SEPT5_ENST00000383045.3_Silent_p.C309C|SEPT5_ENST00000406395.1_Nonsense_Mutation_p.R297*	NM_002688.5	NP_002679.2	Q99719	SEPT5_HUMAN	septin 5	300	Septin-type G.				cytokinesis (GO:0000910)|GTP catabolic process (GO:0006184)|regulation of exocytosis (GO:0017157)|regulation of synaptic vesicle exocytosis (GO:2000300)|synaptic vesicle targeting (GO:0016080)	plasma membrane (GO:0005886)|septin complex (GO:0031105)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					ACGTGACGTGCGACGTGCACT	0.662																																																0													58	52	54					22																	19709430		2203	4299	6502	SO:0001819	synonymous_variant	5413			Y11593	CCDS13764.1, CCDS56224.1	22q11.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000184702	ENSG00000184702		"Septins"	9164	protein-coding gene	gene with protein product		602724	"peanut-like 1 (Drosophila)"	PNUTL1		9385360, 9611266	Standard	NM_002688		Approved	HCDCREL-1, H5		Q99719	OTTHUMG00000150399	ENST00000455784.2:c.900C>T	chr22.hg19:g.19709430C>T			O15251|Q96MY5	Nonsense_Mutation	SNP	ENST00000455784.2	hg19	CCDS13764.1	.	.	.	.	.	.	.	.	.	.	C	35	5.483869	0.96307	.	.	ENSG00000184702	ENST00000406395;ENST00000438754	.	.	.	3.66	-2.26	0.06867	.	.	.	.	.	.	.	.	.	.	.	0.58432	A	0.999992	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	.	5.9818	0.19411	0.0:0.3259:0.1386:0.5355	.	.	.	.	X	297;306	.	ENSP00000384535:R297X	R	+	1	2	SEPT5	18089430	0.020000	0.18652	0.802000	0.32245	0.983000	0.72400	-0.876000	0.04201	-0.201000	0.10284	0.297000	0.19635	CGA		0.662	SEPT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317937.1	NM_002688		T	19709430	C	T	19709430	2	4	675	1	0	0	0	0	0	0	0	1	14073	776	27	1		1	SEPT5	22	19709430	Silent	SNP	C	TCGA-HE-A5NJ-01A-11D-A26P-10		19709430	31595136	69	37214											
MTMR3	8897	hgsc.bcm.edu	37	22	30416249	30416249	+	Silent	SNP	C	C	T			TCGA-HE-A5NJ-01A-11D-A26P-10	TCGA-HE-A5NJ-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9dbd55c-5dcc-48db-8785-6baef3fdd7db	de0653ad-a848-4f4b-b675-6cb625cb5167	g.chr22:30416249C>T	ENST00000401950.2	+	17	2943	c.2601C>T	c.(2599-2601)tgC>tgT	p.C867C	MTMR3_ENST00000351488.3_Silent_p.C867C|MTMR3_ENST00000406629.1_Silent_p.C867C|MTMR3_ENST00000323630.5_Silent_p.C731C|CTA-85E5.10_ENST00000429350.1_RNA|CTA-85E5.10_ENST00000453743.2_RNA|MTMR3_ENST00000333027.3_Silent_p.C867C	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	867					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			ATAGATCTTGCCTTGTAAATA	0.512																																																0													69	65	66					22																	30416249		2203	4300	6503	SO:0001819	synonymous_variant	8897			U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"Zinc fingers, FYVE domain containing", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.2601C>T	chr22.hg19:g.30416249C>T			A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Silent	SNP	ENST00000401950.2	hg19	CCDS13870.1																																																																																				0.512	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1	NM_021090		T	30416249	C	T	30416249	2	4	675	1	0	0	0	0	0	0	0	1	9947	747	26	2		2	MTMR3	22	30416249	Silent	SNP	C	TCGA-HE-A5NJ-01A-11D-A26P-10	10706819	30416249	20888317	70	37215											
POLA1	5422	hgsc.bcm.edu	37	X	24750526	24750526	+	Missense_Mutation	SNP	T	T	A			TCGA-HE-A5NJ-01A-11D-A26P-10	TCGA-HE-A5NJ-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9dbd55c-5dcc-48db-8785-6baef3fdd7db	de0653ad-a848-4f4b-b675-6cb625cb5167	g.chrX:24750526T>A	ENST00000379059.3	+	16	1723	c.1708T>A	c.(1708-1710)Ttg>Atg	p.L570M	POLA1_ENST00000493342.1_3'UTR|POLA1_ENST00000379068.3_Missense_Mutation_p.L576M	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	570					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|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)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	CAGTTTTGCATTGGATAAAGC	0.398																																																0													189	158	168					X																	24750526		2203	4300	6503	SO:0001583	missense	5422				CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"DNA polymerases"	9173	protein-coding gene	gene with protein product		312040	"polymerase (DNA directed), alpha", "polymerase (DNA directed), alpha 1", "N syndrome (mental retardation, malformations, chromosome breakage)"	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379059.3:c.1708T>A	chrX.hg19:g.24750526T>A	ENSP00000368349:p.Leu570Met		Q86UQ7	Missense_Mutation	SNP	ENST00000379059.3	hg19	CCDS14214.1	.	.	.	.	.	.	.	.	.	.	T	14.44	2.534808	0.45073	.	.	ENSG00000101868	ENST00000379068;ENST00000379059	T;T	0.45276	0.9;0.9	5.42	0.376	0.16193	DNA-directed DNA polymerase, family B, exonuclease domain (1);Ribonuclease H-like (1);	0.268948	0.37483	N	0.002076	T	0.45357	0.1338	M	0.82323	2.585	0.33032	D	0.530339	B	0.32283	0.362	B	0.36244	0.22	T	0.54675	-0.8258	10	0.54805	T	0.06	-6.8741	9.4781	0.38884	0.0:0.4038:0.0:0.5962	.	570	P09884	DPOLA_HUMAN	M	576;570	ENSP00000368358:L576M;ENSP00000368349:L570M	ENSP00000368349:L570M	L	+	1	2	POLA1	24660447	0.321000	0.24625	0.054000	0.19295	0.938000	0.57974	0.682000	0.25335	-0.193000	0.10415	0.417000	0.27973	TTG		0.398	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056111.1	NM_016937		A	24750526	T	A	24750526	3	1	675	1	0	0	0	0	1	0	0	0	12189	1490	52	5	1770	5	POLA1	23	24750526	Missense_Mutation	SNP	T	TCGA-HE-A5NJ-01A-11D-A26P-10		24750526	130520034	71	37216											
GATA1	2623	hgsc.bcm.edu	37	X	48652221	48652221	+	Missense_Mutation	SNP	C	C	T			TCGA-HE-A5NJ-01A-11D-A26P-10	TCGA-HE-A5NJ-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9dbd55c-5dcc-48db-8785-6baef3fdd7db	de0653ad-a848-4f4b-b675-6cb625cb5167	g.chrX:48652221C>T	ENST00000376670.3	+	6	1003	c.892C>T	c.(892-894)Cgg>Tgg	p.R298W	GATA1_ENST00000376665.3_Intron	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	298					basophil differentiation (GO:0030221)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cellular response to thyroid hormone stimulus (GO:0097067)|dendritic cell differentiation (GO:0097028)|embryonic hemopoiesis (GO:0035162)|eosinophil differentiation (GO:0030222)|eosinophil fate commitment (GO:0035854)|erythrocyte development (GO:0048821)|erythrocyte differentiation (GO:0030218)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|megakaryocyte differentiation (GO:0030219)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of definitive erythrocyte differentiation (GO:0010724)|regulation of glycoprotein biosynthetic process (GO:0010559)|transcription from RNA polymerase II promoter (GO:0006366)|transcriptional activation by promoter-enhancer looping (GO:0071733)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	C2H2 zinc finger domain binding (GO:0070742)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer sequence-specific DNA binding (GO:0001158)|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 regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						ACTGACCATGCGGAAGGATGG	0.582			"Mis, F"		megakaryoblastic leukemia of Downs Syndrome																																Pancreas(9;429 505 11287 29617)		Dom	yes		X	Xp11.23	2623	GATA binding protein 1 (globin transcription factor 1)		L	0													21	20	21					X																	48652221		2203	4299	6502	SO:0001583	missense	2623			X17254	CCDS14305.1	Xp11.23	2014-09-17	2001-11-28		ENSG00000102145	ENSG00000102145		"GATA zinc finger domain containing"	4170	protein-coding gene	gene with protein product	"nuclear factor, erythroid 1"	305371	"GATA-binding protein 1 (globin transcription factor 1)"	GF1		1999341	Standard	NM_002049		Approved	ERYF1, NFE1, GATA-1, NF-E1	uc004dkq.4	P15976	OTTHUMG00000021504	ENST00000376670.3:c.892C>T	chrX.hg19:g.48652221C>T	ENSP00000365858:p.Arg298Trp		Q96GB8	Missense_Mutation	SNP	ENST00000376670.3	hg19	CCDS14305.1	.	.	.	.	.	.	.	.	.	.	c	18.07	3.540683	0.65085	.	.	ENSG00000102145	ENST00000376670	D	0.99667	-6.34	4.21	-2.43	0.06522	Zinc finger, NHR/GATA-type (1);Zinc finger, GATA-type (2);	0.068357	0.56097	U	0.000034	D	0.99007	0.9661	L	0.28694	0.88	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.96825	0.9607	10	0.87932	D	0	-11.8489	14.9001	0.70672	0.8239:0.1761:0.0:0.0	.	298	P15976	GATA1_HUMAN	W	298	ENSP00000365858:R298W	ENSP00000365858:R298W	R	+	1	2	GATA1	48537165	0.693000	0.27728	0.976000	0.42696	0.976000	0.68499	-0.187000	0.09656	-1.041000	0.03266	0.365000	0.22127	CGG		0.582	GATA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056517.1	NM_002049		T	48652221	C	T	48652221	3	4	675	1	0	0	0	0	1	0	0	0	6255	759	27	1	910	1	GATA1	23	48652221	Missense_Mutation	SNP	C	TCGA-HE-A5NJ-01A-11D-A26P-10	23901695	48652221	106618339	72	37217											
FAM46B	115572	hgsc.bcm.edu	37	1	27332755	27332755	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr1:27332755G>A	ENST00000289166.5	-	2	1123	c.958C>T	c.(958-960)Cgg>Tgg	p.R320W		NM_052943.3	NP_443175.2	Q96A09	FA46B_HUMAN	family with sequence similarity 46, member B	320										breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10		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;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)		AGGGTGCGCCGCTGCTCCACC	0.682																																																0													20	22	21					1																	27332755		2201	4298	6499	SO:0001583	missense	115572			AK122816	CCDS294.2	1p35.3	2008-02-05			ENSG00000158246	ENSG00000158246			28273	protein-coding gene	gene with protein product						12477932	Standard	NM_052943		Approved	MGC16491	uc010ofj.2	Q96A09	OTTHUMG00000004278	ENST00000289166.5:c.958C>T	chr1.hg19:g.27332755G>A	ENSP00000289166:p.Arg320Trp			Missense_Mutation	SNP	ENST00000289166.5	hg19	CCDS294.2	.	.	.	.	.	.	.	.	.	.	G	16.33	3.094188	0.56075	.	.	ENSG00000158246	ENST00000289166	T	0.25085	1.82	5.31	3.24	0.37175	Domain of unknown function DUF1693 (1);	0.379713	0.30584	N	0.009309	T	0.42131	0.1189	L	0.54323	1.7	0.37467	D	0.915445	D	0.57899	0.981	P	0.61070	0.883	T	0.53330	-0.8454	10	0.59425	D	0.04	-5.9287	15.2423	0.73480	0.0:0.0:0.7268:0.2732	.	320	Q96A09	FA46B_HUMAN	W	320	ENSP00000289166:R320W	ENSP00000289166:R320W	R	-	1	2	FAM46B	27205342	1.000000	0.71417	1.000000	0.80357	0.580000	0.36256	4.588000	0.60999	1.415000	0.47037	0.561000	0.74099	CGG		0.682	FAM46B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012347.2	NM_052943		A	27332755	G	A	27332755	3	1	676	1	0	0	0	0	1	0	0	0	5568	1086	38	1	323	1	FAM46B	1	27332755	Missense_Mutation	SNP	G	TCGA-HE-A5NK-01A-11D-A26P-10		27332755	221917866	1	37218											
FUBP1	8880	hgsc.bcm.edu	37	1	78414969	78414969	+	Silent	SNP	A	A	G			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr1:78414969A>G	ENST00000370768.2	-	19	1878	c.1797T>C	c.(1795-1797)gcT>gcC	p.A599A	FUBP1_ENST00000370767.1_Silent_p.A599A|FUBP1_ENST00000436586.2_Silent_p.A620A|FUBP1_ENST00000489495.1_5'Flank	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	599					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						CCCCAGTCGGAGCAGGAACTG	0.448			"F, N"		oligodendroglioma																																		Rec	yes		1	1p13.1	8880	far upstream element (FUSE) binding protein 1		O	0													64	69	67					1																	78414969		2203	4300	6503	SO:0001819	synonymous_variant	8880			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.1797T>C	chr1.hg19:g.78414969A>G			Q12828	Silent	SNP	ENST00000370768.2	hg19	CCDS683.1																																																																																				0.448	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		G	78414969	A	G	78414969	2	3	676	1	0	0	0	0	0	0	0	1	6094	291	11	3		3	FUBP1	1	78414969	Silent	SNP	A	TCGA-HE-A5NK-01A-11D-A26P-10	51082214	78414969	170835652	2	37219											
RBMXL1	494115	hgsc.bcm.edu	37	1	89449426	89449426	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr1:89449426delA	ENST00000321792.5	-	2	511	c.84delT	c.(82-84)tttfs	p.F28fs	CCBL2_ENST00000446900.2_Intron|RBMXL1_ENST00000413769.1_5'UTR|CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000260508.4_Intron|RBMXL1_ENST00000399794.2_Frame_Shift_Del_p.F28fs|CCBL2_ENST00000370491.3_Intron	NM_019610.5	NP_062556.2	Q96E39	RMXL1_HUMAN	RNA binding motif protein, X-linked-like 1	28	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)										CATATTTGCCAAATACTGTTT	0.413											OREG0013593	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													191	187	188					1																	89449426		2203	4300	6503	SO:0001589	frameshift_variant	494115			BC012942	CCDS716.1	1p22.2	2013-02-12	2007-01-04	2007-01-04	ENSG00000213516	ENSG00000213516		"RNA binding motif (RRM) containing"	25073	protein-coding gene	gene with protein product	"kynurenine aminotransferase III"					10441733	Standard	NM_019610		Approved	KAT3	uc001dms.3	Q96E39	OTTHUMG00000010661	ENST00000321792.5:c.84delT	chr1.hg19:g.89449426delA	ENSP00000318415:p.Phe28fs	1267		Frame_Shift_Del	DEL	ENST00000321792.5	hg19	CCDS716.1																																																																																				0.413	RBMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029403.3	NM_019610		-	89449426	A	-	89449426	7	5	676	1	0	1	0	1	0	0	0	0	13159	127	5	0	1092	0	RBMXL1	1	89449426	Frame_Shift_Del	DEL	A	TCGA-HE-A5NK-01A-11D-A26P-10	11034457	89449426	159801195	3	37220											
LRRC8C	84230	hgsc.bcm.edu	37	1	90179188	90179188	+	Silent	SNP	T	T	C			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr1:90179188T>C	ENST00000370454.4	+	3	1314	c.1059T>C	c.(1057-1059)taT>taC	p.Y353Y	LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	353					fat cell differentiation (GO:0045444)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		CCTTTGAGTATGTCCGTCAGG	0.388																																																0													54	50	51					1																	90179188		2203	4299	6502	SO:0001819	synonymous_variant	84230				CCDS725.1	1p22.2	2011-02-10			ENSG00000171488	ENSG00000171488			25075	protein-coding gene	gene with protein product	"hypothetical protein AD158"	612889				11230166	Standard	NM_032270		Approved	AD158	uc001dnl.4	Q8TDW0	OTTHUMG00000010305	ENST00000370454.4:c.1059T>C	chr1.hg19:g.90179188T>C			B3KXS9|Q29RV6|Q9H075	Silent	SNP	ENST00000370454.4	hg19	CCDS725.1																																																																																				0.388	LRRC8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028435.2	NM_032270		C	90179188	T	C	90179188	2	2	676	1	0	0	0	0	0	0	0	1	9025	1471	51	3		3	LRRC8C	1	90179188	Silent	SNP	T	TCGA-HE-A5NK-01A-11D-A26P-10	729762	90179188	159071433	4	37221											
IQGAP3	128239	hgsc.bcm.edu	37	1	156517916	156517917	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	AG	AG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr1:156517916_156517917delAG	ENST00000361170.2	-	19	2262_2263	c.2252_2253delCT	c.(2251-2253)gctfs	p.A751fs		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	751	IQ 1. {ECO:0000255|PROSITE- ProRule:PRU00116}.				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)					GGGAATGCTCAGCAAACTTCTG	0.579																																																0																																										SO:0001589	frameshift_variant	128239			AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.2252_2253delCT	chr1.hg19:g.156517916_156517917delAG	ENSP00000354451:p.Ala751fs		Q5T3H8	Frame_Shift_Del	DEL	ENST00000361170.2	hg19	CCDS1144.1																																																																																				0.579	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229		-	156517917	AG	-	156517916	7	5	676	1	0	1	0	1	0	0	0	0	7818	175	7	0	2722	0	IQGAP3	1	156517916	Frame_Shift_Del	DEL	AG	TCGA-HE-A5NK-01A-11D-A26P-10	66338728	156517916	92732705	5	37222											
SLC19A2	10560	hgsc.bcm.edu	37	1	169446750	169446750	+	Silent	SNP	G	G	A			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr1:169446750G>A	ENST00000236137.5	-	2	686	c.450C>T	c.(448-450)gaC>gaT	p.D150D	SLC19A2_ENST00000367804.4_Intron	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN	solute carrier family 19 (thiamine transporter), member 2	150					folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|thiamine transport (GO:0015888)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	folic acid transporter activity (GO:0008517)|thiamine transmembrane transporter activity (GO:0015234)|thiamine uptake transmembrane transporter activity (GO:0015403)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)				Thiamine(DB00152)	ACATGCCCAGGTCCACCACAC	0.478																																																0													93	96	95					1																	169446750		2203	4300	6503	SO:0001819	synonymous_variant	10560			AF135488	CCDS1280.1	1q23.3	2013-05-22			ENSG00000117479	ENSG00000117479		"Solute carriers"	10938	protein-coding gene	gene with protein product		603941		TRMA		9399900, 10391221	Standard	NM_006996		Approved	THTR1	uc001gge.4	O60779	OTTHUMG00000035452	ENST00000236137.5:c.450C>T	chr1.hg19:g.169446750G>A			B2R9H0|B4E1X4|Q8WV87|Q9UBL7|Q9UKJ2|Q9UN31|Q9UN43	Silent	SNP	ENST00000236137.5	hg19	CCDS1280.1																																																																																				0.478	SLC19A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086106.1	NM_006996		A	169446750	G	A	169446750	2	1	676	1	0	0	0	0	0	0	0	1	14435	1252	44	2		2	SLC19A2	1	169446750	Silent	SNP	G	TCGA-HE-A5NK-01A-11D-A26P-10	12928834	169446750	79803871	6	37223											
CACNA1E	777	hgsc.bcm.edu	37	1	181701628	181701628	+	Silent	SNP	G	G	A			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr1:181701628G>A	ENST00000367573.2	+	20	2406	c.2406G>A	c.(2404-2406)gcG>gcA	p.A802A	CACNA1E_ENST00000367570.1_Silent_p.A802A|CACNA1E_ENST00000367567.4_Silent_p.A409A|CACNA1E_ENST00000357570.5_Silent_p.A753A|CACNA1E_ENST00000526775.1_Silent_p.A783A|CACNA1E_ENST00000360108.3_Silent_p.A783A|CACNA1E_ENST00000358338.5_Silent_p.A734A	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	802					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						GAGAGGAGGCGCCGACCATGa	0.657																																																0													39	57	51					1																	181701628		1759	3301	5060	SO:0001819	synonymous_variant	777			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.2406G>A	chr1.hg19:g.181701628G>A			B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	ENST00000367573.2	hg19	CCDS55664.1																																																																																				0.657	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		A	181701628	G	A	181701628	2	1	676	1	0	0	0	0	0	0	0	1	2544	1074	38	1		1	CACNA1E	1	181701628	Silent	SNP	G	TCGA-HE-A5NK-01A-11D-A26P-10	12254878	181701628	67548993	7	37224											
CABC1	56997	hgsc.bcm.edu	37	1	227172964	227172964	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr1:227172964G>A	ENST00000366779.1	+	19	4353	c.1582G>A	c.(1582-1584)Gct>Act	p.A528T	ADCK3_ENST00000366777.3_Missense_Mutation_p.A528T|ADCK3_ENST00000458507.2_Missense_Mutation_p.A249T|ADCK3_ENST00000433743.2_Missense_Mutation_p.A202T|ADCK3_ENST00000478406.1_3'UTR|ADCK3_ENST00000366778.1_Missense_Mutation_p.A476T			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	528					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						GATCATCAGGGCTGCTGCCGA	0.632																																																0													119	116	117					1																	227172964		2203	4300	6503	SO:0001583	missense	56997			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.1582G>A	chr1.hg19:g.227172964G>A	ENSP00000355741:p.Ala528Thr		Q5T7A5|Q63HK0|Q8NCJ6|Q9HBQ1|Q9NQ67	Missense_Mutation	SNP	ENST00000366779.1	hg19	CCDS1557.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.998025	0.93227	.	.	ENSG00000163050	ENST00000366779;ENST00000366778;ENST00000366777;ENST00000366776;ENST00000458507;ENST00000366775;ENST00000405743;ENST00000433743	T;T;T;T;T;T;T	0.61510	0.1;0.1;0.1;0.1;0.1;0.1;0.1	5.69	5.69	0.88448	.	0.105243	0.64402	D	0.000005	D	0.82554	0.5062	H	0.94847	3.59	0.58432	D	0.999995	D;D	0.64830	0.982;0.994	P;D	0.63033	0.796;0.91	D	0.87070	0.2159	10	0.87932	D	0	-11.9896	19.815	0.96564	0.0:0.0:1.0:0.0	.	202;528	E7EVZ8;Q8NI60	.;ADCK3_HUMAN	T	528;476;528;453;249;373;479;202	ENSP00000355741:A528T;ENSP00000355740:A476T;ENSP00000355739:A528T;ENSP00000355738:A453T;ENSP00000403704:A249T;ENSP00000355737:A373T;ENSP00000404550:A202T	ENSP00000355737:A373T	A	+	1	0	ADCK3	225239587	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	3.953000	0.56699	2.681000	0.91329	0.561000	0.74099	GCT		0.632	ADCK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091712.1	NM_020247		A	227172964	G	A	227172964	3	1	676	1	0	0	0	0	1	0	0	0	2529	1203	42	2	1632	2	CABC1	1	227172964	Missense_Mutation	SNP	G	TCGA-HE-A5NK-01A-11D-A26P-10	45471336	227172964	22077657	8	37225											
FMN2	56776	hgsc.bcm.edu	37	1	240370577	240370577	+	Missense_Mutation	SNP	A	A	T			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr1:240370577A>T	ENST00000319653.9	+	5	2695	c.2465A>T	c.(2464-2466)cAa>cTa	p.Q822L		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	822	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)			TCTGCTGGGCAAGGACAGCCT	0.537																																																0													74	71	72					1																	240370577		2203	4300	6503	SO:0001583	missense	56776			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2465A>T	chr1.hg19:g.240370577A>T	ENSP00000318884:p.Gln822Leu		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	hg19	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	A	7.760	0.705185	0.15172	.	.	ENSG00000155816	ENST00000319653	T	0.31510	1.49	4.09	4.09	0.47781	Actin-binding FH2/DRF autoregulatory (1);	0.425372	0.19864	N	0.104352	T	0.30823	0.0777	L	0.57536	1.79	0.80722	D	1	B	0.30482	0.281	B	0.32533	0.147	T	0.07849	-1.0751	9	.	.	.	.	12.1017	0.53788	1.0:0.0:0.0:0.0	.	822	Q9NZ56	FMN2_HUMAN	L	822	ENSP00000318884:Q822L	.	Q	+	2	0	FMN2	238437200	0.247000	0.23920	0.447000	0.26932	0.071000	0.16799	1.728000	0.38105	1.842000	0.53543	0.454000	0.30748	CAA		0.537	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		T	240370577	A	T	240370577	3	4	676	1	0	0	0	0	1	0	0	0	5952	130	5	5	2483	5	FMN2	1	240370577	Missense_Mutation	SNP	A	TCGA-HE-A5NK-01A-11D-A26P-10	13197613	240370577	8880044	9	37226											
ABCB6	10058	hgsc.bcm.edu	37	2	220075010	220075010	+	Missense_Mutation	SNP	C	C	A			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr2:220075010C>A	ENST00000265316.3	-	18	2678	c.2362G>T	c.(2362-2364)Gtg>Ttg	p.V788L	ABCB6_ENST00000439002.2_Missense_Mutation_p.V742L	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)	788	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|porphyrin-containing compound biosynthetic process (GO:0006779)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial envelope (GO:0005740)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|efflux transmembrane transporter activity (GO:0015562)|heme binding (GO:0020037)|heme transporter activity (GO:0015232)|heme-transporting ATPase activity (GO:0015439)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCATTGACCACAGTTGAGAGC	0.547																																																0													96	92	93					2																	220075010		2203	4300	6503	SO:0001583	missense	10058			AF070598	CCDS2436.1	2q36	2014-08-27	2014-08-27		ENSG00000115657	ENSG00000115657		"ATP binding cassette transporters / subfamily B"	47	protein-coding gene	gene with protein product	"ATP-binding cassette half-transporter"	605452	"ATP-binding cassette, sub-family B (MDR/TAP), member 6"			8894702, 9110174	Standard	NM_005689		Approved	EST45597, umat, MTABC3	uc002vkc.2	Q9NP58	OTTHUMG00000133131	ENST00000265316.3:c.2362G>T	chr2.hg19:g.220075010C>A	ENSP00000265316:p.Val788Leu		O75542|Q49A66|Q59GQ5|Q6ZME6|Q96ME8|Q9HAQ6|Q9HAQ7	Missense_Mutation	SNP	ENST00000265316.3	hg19	CCDS2436.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.954783	0.73902	.	.	ENSG00000115657	ENST00000265316;ENST00000439002	D;D	0.85088	-1.94;-1.94	4.83	4.83	0.62350	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.060728	0.64402	D	0.000004	T	0.76054	0.3934	N	0.04805	-0.155	0.80722	D	1	P;P	0.43431	0.807;0.707	B;B	0.43575	0.424;0.204	T	0.82082	-0.0633	10	0.72032	D	0.01	-19.1858	18.0957	0.89489	0.0:1.0:0.0:0.0	.	742;788	Q9NP58-4;Q9NP58	.;ABCB6_HUMAN	L	788;742	ENSP00000265316:V788L;ENSP00000394333:V742L	ENSP00000265316:V788L	V	-	1	0	ABCB6	219783254	1.000000	0.71417	0.976000	0.42696	0.995000	0.86356	2.882000	0.48546	2.673000	0.90976	0.650000	0.86243	GTG		0.547	ABCB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256820.2	NM_005689		A	220075010	C	A	220075010	3	1	676	1	0	0	0	0	1	0	0	0	45	478	17	4	174	4	ABCB6	2	220075010	Missense_Mutation	SNP	C	TCGA-HE-A5NK-01A-11D-A26P-10		220075010	23124363	10	37227											
TMEM43	79188	hgsc.bcm.edu	37	3	14183165	14183165	+	Missense_Mutation	SNP	C	C	T	rs63750743		TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr3:14183165C>T	ENST00000306077.4	+	12	1327	c.1073C>T	c.(1072-1074)tCg>tTg	p.S358L	RP11-434D12.1_ENST00000601399.1_Intron|RP11-434D12.1_ENST00000608606.1_Intron	NM_024334.2	NP_077310.1	Q9BTV4	TMM43_HUMAN	transmembrane protein 43	358			S -> L (in ARVD5). {ECO:0000269|PubMed:18313022}.		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						GTGGCCACCTCGCTGACCCTG	0.602																																																0			GRCh37	CM081452	TMEM43	M	rs63750743						135	110	119					3																	14183165		2203	4300	6503	SO:0001583	missense	79188			BC008054	CCDS2618.1	3p25.1	2014-09-17			ENSG00000170876	ENSG00000170876			28472	protein-coding gene	gene with protein product		612048	"arrhythmogenic right ventricular dysplasia 5"	ARVD5		11230166, 18313022	Standard	NM_024334		Approved	MGC3222, DKFZp586G1919, LUMA	uc003byk.2	Q9BTV4	OTTHUMG00000129802	ENST00000306077.4:c.1073C>T	chr3.hg19:g.14183165C>T	ENSP00000303992:p.Ser358Leu		Q7L4N5|Q8NC30|Q96A63|Q96F19|Q96JX0|Q9H076	Missense_Mutation	SNP	ENST00000306077.4	hg19	CCDS2618.1	.	.	.	.	.	.	.	.	.	.	C	35	5.493272	0.96339	.	.	ENSG00000170876	ENST00000306077	T	0.35973	1.28	5.71	5.71	0.89125	.	0.066812	0.64402	D	0.000008	T	0.58293	0.2112	L	0.57536	1.79	0.80722	A	1	D	0.89917	1.0	D	0.69142	0.962	T	0.55711	-0.8098	9	0.52906	T	0.07	-15.2636	19.8516	0.96743	0.0:1.0:0.0:0.0	rs63750743	358	Q9BTV4	TMM43_HUMAN	L	358	ENSP00000303992:S358L	ENSP00000303992:S358L	S	+	2	0	TMEM43	14158166	1.000000	0.71417	0.940000	0.37924	0.911000	0.54048	7.205000	0.77881	2.685000	0.91497	0.585000	0.79938	TCG		0.602	TMEM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252030.2	NM_024334		T	14183165	C	T	14183165	3	4	676	1	0	0	0	0	1	0	0	0	16172	893	31	1	1119	1	TMEM43	3	14183165	Missense_Mutation	SNP	C	TCGA-HE-A5NK-01A-11D-A26P-10		14183165	183839265	11	37228											
SMARCC1	6599	hgsc.bcm.edu	37	3	47718172	47718172	+	Missense_Mutation	SNP	C	C	A			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr3:47718172C>A	ENST00000254480.5	-	17	1791	c.1672G>T	c.(1672-1674)Gta>Tta	p.V558L	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	558					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)		TCAGCTAATACATTAAAATGA	0.463																																																0													73	70	71					3																	47718172		2203	4300	6503	SO:0001583	missense	6599			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.1672G>T	chr3.hg19:g.47718172C>A	ENSP00000254480:p.Val558Leu		Q17RS0|Q6P172|Q8IWH2	Missense_Mutation	SNP	ENST00000254480.5	hg19	CCDS2758.1	.	.	.	.	.	.	.	.	.	.	C	35	5.457122	0.96223	.	.	ENSG00000173473	ENST00000254480	T	0.55760	0.5	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.77294	0.4109	M	0.85099	2.735	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.78959	-0.1998	10	0.87932	D	0	-21.3909	19.4236	0.94732	0.0:1.0:0.0:0.0	.	558	Q92922	SMRC1_HUMAN	L	558	ENSP00000254480:V558L	ENSP00000254480:V558L	V	-	1	0	SMARCC1	47693176	1.000000	0.71417	0.995000	0.50966	0.958000	0.62258	7.580000	0.82523	2.937000	0.99478	0.650000	0.86243	GTA		0.463	SMARCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257491.1			A	47718172	C	A	47718172	3	1	676	1	0	0	0	0	1	0	0	0	14781	478	17	4	1693	4	SMARCC1	3	47718172	Missense_Mutation	SNP	C	TCGA-HE-A5NK-01A-11D-A26P-10	33535007	47718172	150304258	12	37229											
APEH	327	hgsc.bcm.edu	37	3	49718019	49718019	+	Missense_Mutation	SNP	T	T	C			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr3:49718019T>C	ENST00000296456.5	+	14	1656	c.1256T>C	c.(1255-1257)cTc>cCc	p.L419P	APEH_ENST00000438011.1_Missense_Mutation_p.L419P	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase	419					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)		GACCAGGACCTCATGGTGGCA	0.572																																																0													136	107	117					3																	49718019		2203	4300	6503	SO:0001583	missense	327			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	ENST00000296456.5:c.1256T>C	chr3.hg19:g.49718019T>C	ENSP00000296456:p.Leu419Pro		Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	hg19	CCDS2801.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.573571	0.86542	.	.	ENSG00000164062	ENST00000296456;ENST00000438011	T;T	0.39787	1.06;1.06	5.44	5.44	0.79542	Peptidase S9A/B/C, oligopeptidase, N-terminal beta-propeller (1);	0.000000	0.85682	D	0.000000	T	0.59074	0.2167	M	0.66939	2.045	0.80722	D	1	D;D	0.64830	0.994;0.994	P;P	0.61201	0.885;0.885	T	0.58228	-0.7673	10	0.36615	T	0.2	-28.7761	15.1365	0.72572	0.0:0.0:0.0:1.0	.	419;419	C9JIF9;P13798	.;ACPH_HUMAN	P	419	ENSP00000296456:L419P;ENSP00000415862:L419P	ENSP00000296456:L419P	L	+	2	0	APEH	49693023	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.147000	0.77382	2.056000	0.61249	0.459000	0.35465	CTC		0.572	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			C	49718019	T	C	49718019	3	2	676	1	0	0	0	0	1	0	0	0	768	1551	54	3	1310	3	APEH	3	49718019	Missense_Mutation	SNP	T	TCGA-HE-A5NK-01A-11D-A26P-10	1999847	49718019	148304411	13	37230											
CACNA1D	776	hgsc.bcm.edu	37	3	53844325	53844325	+	Splice_Site	DEL	A	A	-			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr3:53844325delA	ENST00000350061.5	+	47	6703	c.6192delA	c.(6190-6192)gca>gc	p.A2064fs	CACNA1D_ENST00000288139.4_Splice_Site_p.A2084fs|CACNA1D_ENST00000544977.1_3'UTR|CACNA1D_ENST00000422281.2_Splice_Site_p.A2040fs	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	2064					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)	TGGTGGAGGCAGTGAGTACGG	0.612																																																0													53	60	57					3																	53844325		2203	4300	6503	SO:0001630	splice_region_variant	776			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.6192+1A>-	chr3.hg19:g.53844325delA			B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Frame_Shift_Del	DEL	ENST00000350061.5	hg19	CCDS46848.1																																																																																				0.612	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720	Frame_Shift_Del	-	53844325	A	-	53844325	8	5	676	1	0	1	0	1	0	0	1	0	2543	202	7	0	6550	0	CACNA1D	3	53844325	Splice_Site	DEL	A	TCGA-HE-A5NK-01A-11D-A26P-10	4126306	53844325	144178105	14	37231											
SLC15A2	6565	hgsc.bcm.edu	37	3	121649781	121649781	+	Missense_Mutation	SNP	A	A	G			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr3:121649781A>G	ENST00000489711.1	+	18	2036	c.1648A>G	c.(1648-1650)Act>Gct	p.T550A	SLC15A2_ENST00000465060.1_3'UTR|SLC15A2_ENST00000295605.2_Missense_Mutation_p.T519A	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	550					drug transport (GO:0015893)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|dipeptide transporter activity (GO:0042936)|high-affinity oligopeptide transporter activity (GO:0015334)|peptide:proton symporter activity (GO:0015333)			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Fosinopril(DB00492)|Glyburide(DB01016)|Moexipril(DB00691)|Nateglinide(DB00731)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Tranexamic Acid(DB00302)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	TGCTTATAGAACTGTGCAAAG	0.388																																																0													196	183	187					3																	121649781		2203	4300	6503	SO:0001583	missense	6565			BC044572	CCDS3007.1, CCDS54631.1	3q21.1	2013-07-18	2013-07-18		ENSG00000163406	ENSG00000163406		"Solute carriers"	10921	protein-coding gene	gene with protein product		602339	"solute carrier family 15 (H+/peptide transporter), member 2"			7756356	Standard	NM_021082		Approved	PEPT2	uc003eep.2	Q16348	OTTHUMG00000159423	ENST00000489711.1:c.1648A>G	chr3.hg19:g.121649781A>G	ENSP00000417085:p.Thr550Ala		A8K1A5|B4E2A7	Missense_Mutation	SNP	ENST00000489711.1	hg19	CCDS3007.1	.	.	.	.	.	.	.	.	.	.	A	0.388	-0.925105	0.02377	.	.	ENSG00000163406	ENST00000489711;ENST00000542599;ENST00000295605	T;T	0.02656	4.5;4.21	5.42	1.6	0.23607	.	0.546824	0.20900	N	0.083650	T	0.02156	0.0067	L	0.45228	1.405	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.49051	-0.8979	10	0.08599	T	0.76	-1.3387	3.1896	0.06613	0.5309:0.0:0.1062:0.3628	.	519;550	B4E2A7;Q16348	.;S15A2_HUMAN	A	550;512;519	ENSP00000417085:T550A;ENSP00000295605:T519A	ENSP00000295605:T519A	T	+	1	0	SLC15A2	123132471	0.000000	0.05858	0.036000	0.18154	0.509000	0.34042	0.828000	0.27435	0.109000	0.17891	0.528000	0.53228	ACT		0.388	SLC15A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355239.1	NM_021082		G	121649781	A	G	121649781	3	3	676	1	0	0	0	0	1	0	0	0	14405	43	2	3	1718	3	SLC15A2	3	121649781	Missense_Mutation	SNP	A	TCGA-HE-A5NK-01A-11D-A26P-10	67805456	121649781	76372649	15	37232											
HEG1	57493	hgsc.bcm.edu	37	3	124748131	124748131	+	Missense_Mutation	SNP	C	C	T			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr3:124748131C>T	ENST00000311127.4	-	2	585	c.518G>A	c.(517-519)aGc>aAc	p.S173N		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	173					cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						TGAAGAGCCGCTCCTTCCTCT	0.512																																																0													92	89	90					3																	124748131		1958	4173	6131	SO:0001583	missense	57493			AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"heart of glass"	614182	"HEG homolog 1 (zebrafish)"			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.518G>A	chr3.hg19:g.124748131C>T	ENSP00000311502:p.Ser173Asn		Q6NX66|Q8NC40|Q9BSV0	Missense_Mutation	SNP	ENST00000311127.4	hg19	CCDS46898.1	.	.	.	.	.	.	.	.	.	.	C	0.917	-0.717219	0.03182	.	.	ENSG00000173706	ENST00000311127	T	0.44482	0.92	5.38	-10.8	0.00216	.	.	.	.	.	T	0.09158	0.0226	N	0.01352	-0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.13361	-1.0512	9	0.02654	T	1	.	5.997	0.19499	0.0926:0.2061:0.5365:0.1648	.	173;173	Q9ULI3-2;Q9ULI3	.;HEG1_HUMAN	N	173	ENSP00000311502:S173N	ENSP00000311502:S173N	S	-	2	0	HEG1	126230821	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.000000	0.03693	-1.869000	0.01141	-1.298000	0.01336	AGC		0.512	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	XM_087386		T	124748131	C	T	124748131	3	4	676	1	0	0	0	0	1	0	0	0	7046	797	28	2	3691	2	HEG1	3	124748131	Missense_Mutation	SNP	C	TCGA-HE-A5NK-01A-11D-A26P-10	3098350	124748131	73274299	16	37233											
COL6A5	256076	hgsc.bcm.edu	37	3	130095526	130095526	+	Missense_Mutation	SNP	G	G	T			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr3:130095526G>T	ENST00000432398.2	+	3	1008	c.514G>T	c.(514-516)Gct>Tct	p.A172S	COL6A5_ENST00000265379.6_Missense_Mutation_p.A172S	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	172	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						GGTGCAGAAAGCTTCTGAGGA	0.502																																																0													81	81	81					3																	130095526		692	1591	2283	SO:0001583	missense	256076			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"Collagens"	26674	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 4"	611916	"collagen, type XXIX, alpha 1"	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.514G>T	chr3.hg19:g.130095526G>T	ENSP00000390895:p.Ala172Ser		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	ENST00000432398.2	hg19		.	.	.	.	.	.	.	.	.	.	G	6.971	0.549091	0.13312	.	.	ENSG00000172752	ENST00000432398;ENST00000265379	T;T	0.80214	-1.35;-1.35	5.14	3.34	0.38264	.	.	.	.	.	T	0.80989	0.4730	M	0.72479	2.2	0.09310	N	0.99999	P	0.38582	0.638	P	0.45577	0.486	T	0.69379	-0.5161	9	0.38643	T	0.18	.	6.3024	0.21119	0.1591:0.0:0.6941:0.1469	.	172	A8TX70-2	.	S	172	ENSP00000390895:A172S;ENSP00000265379:A172S	ENSP00000265379:A172S	A	+	1	0	COL6A5	131578216	0.445000	0.25657	0.010000	0.14722	0.017000	0.09413	2.715000	0.47210	0.671000	0.31185	-0.259000	0.10710	GCT		0.502	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264		T	130095526	G	T	130095526	3	4	676	1	0	0	0	0	1	0	0	0	3704	971	34	4	520	4	COL6A5	3	130095526	Missense_Mutation	SNP	G	TCGA-HE-A5NK-01A-11D-A26P-10	5347395	130095526	67926904	17	37234											
KLHL24	54800	hgsc.bcm.edu	37	3	183381404	183381404	+	Missense_Mutation	SNP	C	C	A			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr3:183381404C>A	ENST00000454652.2	+	5	1465	c.1079C>A	c.(1078-1080)gCt>gAt	p.A360D	KLHL24_ENST00000476808.1_Missense_Mutation_p.A360D|KLHL24_ENST00000242810.6_Missense_Mutation_p.A360D	NM_017644.3	NP_060114.2	Q6TFL4	KLH24_HUMAN	kelch-like family member 24	360						cell projection (GO:0042995)|cytoplasm (GO:0005737)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			GCAGTCTGTGCTCTAAGGAAT	0.353																																																0													104	99	101					3																	183381404		2203	4300	6503	SO:0001583	missense	54800				CCDS3246.1	3q27.1	2013-02-22	2013-02-22		ENSG00000114796	ENSG00000114796		"Kelch-like", "BTB/POZ domain containing"	25947	protein-coding gene	gene with protein product		611295	"kelch-like 24 (Drosophila)"				Standard	XM_005247552		Approved	DRE1, FLJ20059	uc003flv.3	Q6TFL4	OTTHUMG00000156911	ENST00000454652.2:c.1079C>A	chr3.hg19:g.183381404C>A	ENSP00000395012:p.Ala360Asp		A5PLN8|Q9H620|Q9NXT9	Missense_Mutation	SNP	ENST00000454652.2	hg19	CCDS3246.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.086083	0.76642	.	.	ENSG00000114796	ENST00000242810;ENST00000454652;ENST00000476808	T;T;T	0.79352	-1.26;-1.26;-1.26	5.34	5.34	0.76211	Galactose oxidase, beta-propeller (1);	0.047926	0.85682	D	0.000000	D	0.85048	0.5608	M	0.80847	2.515	0.80722	D	1	B;B	0.30146	0.131;0.27	B;B	0.42593	0.04;0.392	D	0.84947	0.0869	10	0.66056	D	0.02	.	19.4149	0.94690	0.0:1.0:0.0:0.0	.	360;360	Q6TFL4-2;Q6TFL4	.;KLH24_HUMAN	D	360	ENSP00000242810:A360D;ENSP00000395012:A360D;ENSP00000419010:A360D	ENSP00000242810:A360D	A	+	2	0	KLHL24	184864098	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	7.445000	0.80570	2.675000	0.91044	0.462000	0.41574	GCT		0.353	KLHL24-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346586.2	NM_017644		A	183381404	C	A	183381404	3	1	676	1	0	0	0	0	1	0	0	0	8381	797	28	4	1085	4	KLHL24	3	183381404	Missense_Mutation	SNP	C	TCGA-HE-A5NK-01A-11D-A26P-10	53285878	183381404	14641026	18	37235											
YEATS2	55689	hgsc.bcm.edu	37	3	183476664	183476664	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr3:183476664delA	ENST00000305135.5	+	13	1762	c.1567delA	c.(1567-1569)aagfs	p.K523fs		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	523					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)			TCCTACAAACAAGATCTCCAC	0.373																																																0													138	126	129					3																	183476664		1834	4080	5914	SO:0001589	frameshift_variant	55689			AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.1567delA	chr3.hg19:g.183476664delA	ENSP00000306983:p.Lys523fs		A7E2B9|D3DNS9|Q641P6|Q9NW96	Frame_Shift_Del	DEL	ENST00000305135.5	hg19	CCDS43175.1																																																																																				0.373	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023		-	183476664	A	-	183476664	7	5	676	1	0	1	0	1	0	0	0	0	17477	131	5	0	1613	0	YEATS2	3	183476664	Frame_Shift_Del	DEL	A	TCGA-HE-A5NK-01A-11D-A26P-10	95260	183476664	14545766	19	37236											
CNGA1	1259	hgsc.bcm.edu	37	4	47938977	47938977	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr4:47938977delT	ENST00000514170.1	-	11	1853	c.1534delA	c.(1534-1536)atcfs	p.I512fs	CNGA1_ENST00000544810.1_Frame_Shift_Del_p.I512fs|CNGA1_ENST00000402813.3_Frame_Shift_Del_p.I581fs|CNGA1_ENST00000358519.4_Frame_Shift_Del_p.I512fs|CNGA1_ENST00000420489.2_Frame_Shift_Del_p.I512fs			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	512					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	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)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						TCTCGTCCGATATCCCCTTTC	0.463																																																0													111	112	111					4																	47938977		2138	4277	6415	SO:0001589	frameshift_variant	1259			M84741	CCDS43226.1, CCDS47050.1	4p12	2013-02-14				ENSG00000198515		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2148	protein-coding gene	gene with protein product		123825		CNCG1, CNCG		7683629, 16382102	Standard	NM_000087		Approved	RCNC1, RCNCa, CNG1, RP49	uc003gxu.3	P29973		ENST00000514170.1:c.1534delA	chr4.hg19:g.47938977delT	ENSP00000426862:p.Ile512fs		A8K7K6|J3KPZ2|Q16279|Q16485|Q4W5E3	Frame_Shift_Del	DEL	ENST00000514170.1	hg19	CCDS43226.1																																																																																				0.463	CNGA1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372070.2	NM_000087		-	47938977	T	-	47938977	7	5	676	1	0	1	0	1	0	0	0	0	3598	1406	49	0	542	0	CNGA1	4	47938977	Frame_Shift_Del	DEL	T	TCGA-HE-A5NK-01A-11D-A26P-10		47938977	143215299	20	37237											
WDFY3	23001	hgsc.bcm.edu	37	4	85716095	85716095	+	Missense_Mutation	SNP	G	G	T			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr4:85716095G>T	ENST00000295888.4	-	20	3612	c.3205C>A	c.(3205-3207)Cct>Act	p.P1069T	WDFY3_ENST00000322366.6_Missense_Mutation_p.P1069T	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1069					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)		TTATTTGTAGGAGCATTATGA	0.378																																																0													72	69	70					4																	85716095		2203	4300	6503	SO:0001583	missense	23001			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.3205C>A	chr4.hg19:g.85716095G>T	ENSP00000295888:p.Pro1069Thr		Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	hg19	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	G	3.505	-0.100986	0.06967	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.40476	1.03;1.03	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.30417	0.0764	N	0.24115	0.695	0.80722	D	1	B	0.12013	0.005	B	0.11329	0.006	T	0.14643	-1.0465	10	0.07325	T	0.83	.	19.6264	0.95679	0.0:0.0:1.0:0.0	.	1069	Q8IZQ1	WDFY3_HUMAN	T	1069	ENSP00000318466:P1069T;ENSP00000295888:P1069T	ENSP00000295888:P1069T	P	-	1	0	WDFY3	85935119	1.000000	0.71417	0.996000	0.52242	0.219000	0.24729	7.424000	0.80242	2.717000	0.92951	0.655000	0.94253	CCT		0.378	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		T	85716095	G	T	85716095	3	4	676	1	0	0	0	0	1	0	0	0	17275	1174	41	4	7571	4	WDFY3	4	85716095	Missense_Mutation	SNP	G	TCGA-HE-A5NK-01A-11D-A26P-10	37777118	85716095	105438181	21	37238											
C4orf37	285555	hgsc.bcm.edu	37	4	98893529	98893529	+	Missense_Mutation	SNP	T	T	C			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr4:98893529T>C	ENST00000295268.3	-	7	924	c.835A>G	c.(835-837)Aag>Gag	p.K279E		NM_174952.2	NP_777612.1	Q8N412	STPG2_HUMAN	sperm-tail PG-rich repeat containing 2	279			K -> R (in dbSNP:rs7654193).														TTCTGTTTCTTTGAGCAGATA	0.358																																																0													71	71	71					4																	98893529		2203	4300	6503	SO:0001583	missense	285555			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.835A>G	chr4.hg19:g.98893529T>C	ENSP00000295268:p.Lys279Glu			Missense_Mutation	SNP	ENST00000295268.3	hg19	CCDS3645.1	.	.	.	.	.	.	.	.	.	.	T	0.011	-1.723977	0.00694	.	.	ENSG00000163116	ENST00000295268	T	0.11604	2.76	5.45	1.74	0.24563	.	0.432965	0.22937	N	0.053831	T	0.06005	0.0156	L	0.27053	0.805	0.09310	N	1	B	0.11235	0.004	B	0.16289	0.015	T	0.34800	-0.9814	9	.	.	.	-8.5472	4.1354	0.10169	0.0:0.3996:0.2191:0.3813	.	279	Q8N412	CD037_HUMAN	E	279	ENSP00000295268:K279E	.	K	-	1	0	C4orf37	99112552	0.115000	0.22152	0.080000	0.20451	0.292000	0.27327	0.392000	0.20801	0.901000	0.36495	0.455000	0.32223	AAG		0.358	STPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253642.1	NM_174952		C	98893529	T	C	98893529	3	2	676	1	0	0	0	0	1	0	0	0	2269	1850	64	3	564	3	C4orf37	4	98893529	Missense_Mutation	SNP	T	TCGA-HE-A5NK-01A-11D-A26P-10	13177434	98893529	92260747	22	37239											
NR3C2	4306	hgsc.bcm.edu	37	4	149356416	149356416	+	Missense_Mutation	SNP	T	T	C			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr4:149356416T>C	ENST00000358102.3	-	2	1959	c.1597A>G	c.(1597-1599)Ata>Gta	p.I533V	NR3C2_ENST00000344721.4_Missense_Mutation_p.I533V|NR3C2_ENST00000512865.1_Missense_Mutation_p.I533V|NR3C2_ENST00000511528.1_Missense_Mutation_p.I533V|NR3C2_ENST00000355292.3_Missense_Mutation_p.I533V	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	533	Modulating.				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)	GATAAAGATATTGTACCTTGA	0.483																																					Melanoma(27;428 957 40335 51025 51111)											0													121	112	115					4																	149356416		2203	4300	6503	SO:0001583	missense	4306			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.1597A>G	chr4.hg19:g.149356416T>C	ENSP00000350815:p.Ile533Val		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Missense_Mutation	SNP	ENST00000358102.3	hg19	CCDS3772.1	.	.	.	.	.	.	.	.	.	.	T	13.43	2.234464	0.39498	.	.	ENSG00000151623	ENST00000344721;ENST00000355292;ENST00000358102;ENST00000512865;ENST00000544252;ENST00000342437;ENST00000511528	D;D;D;D;D;D	0.90069	-2.6;-2.61;-2.6;-2.17;-2.18;-2.61	5.51	5.51	0.81932	.	0.037872	0.85682	D	0.000000	T	0.80839	0.4700	N	0.24115	0.695	0.45806	D	0.998684	B;P	0.41524	0.144;0.753	B;B	0.35550	0.035;0.205	T	0.80576	-0.1321	9	.	.	.	.	15.9104	0.79470	0.0:0.0:0.0:1.0	.	533;533	B0ZBF5;B0ZBF6	.;.	V	533	ENSP00000341390:I533V;ENSP00000347441:I533V;ENSP00000350815:I533V;ENSP00000423510:I533V;ENSP00000343907:I533V;ENSP00000421481:I533V	.	I	-	1	0	NR3C2	149575866	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.615000	0.83006	2.210000	0.71456	0.533000	0.62120	ATA		0.483	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1			C	149356416	T	C	149356416	3	2	676	1	0	0	0	0	1	0	0	0	10633	1493	52	3	1389	3	NR3C2	4	149356416	Missense_Mutation	SNP	T	TCGA-HE-A5NK-01A-11D-A26P-10	50462887	149356416	41797860	23	37240											
C5orf42	65250	hgsc.bcm.edu	37	5	37121780	37121780	+	Silent	SNP	A	A	G			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr5:37121780A>G	ENST00000508244.1	-	47	9055	c.8962T>C	c.(8962-8964)Ttg>Ctg	p.L2988L	C5orf42_ENST00000425232.2_Silent_p.L2988L|C5orf42_ENST00000274258.7_Silent_p.L1886L|C5orf42_ENST00000512288.1_5'UTR			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2988						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)			TTGTTAGGCAATGGTTTCTGT	0.463																																																0													308	265	280					5																	37121780		2203	4300	6503	SO:0001819	synonymous_variant	65250				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.8962T>C	chr5.hg19:g.37121780A>G			A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Silent	SNP	ENST00000508244.1	hg19	CCDS34146.2																																																																																				0.463	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		G	37121780	A	G	37121780	2	3	676	1	0	0	0	0	0	0	0	1	2303	98	4	3		3	C5orf42	5	37121780	Silent	SNP	A	TCGA-HE-A5NK-01A-11D-A26P-10		37121780	143793480	24	37241											
ADAMTS6	11174	hgsc.bcm.edu	37	5	64587271	64587271	+	IGR	SNP	T	T	A			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr5:64587271T>A								ADAMTS6 (92679 upstream) : ADAMTS6 (5763 downstream)																							GGGAGGCTCATTATCAAGGCA	0.458																																																0													107	97	101					5																	64587271		2203	4300	6503	SO:0001628	intergenic_variant	11174																															chr5.hg19:g.64587271T>A				Missense_Mutation	SNP		hg19		.	.	.	.	.	.	.	.	.	.	T	18.48	3.633123	0.67015	.	.	ENSG00000049192	ENST00000381055;ENST00000464680	D;D	0.90004	-2.6;-2.6	5.26	5.26	0.73747	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.92854	0.7727	L	0.53249	1.67	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.987;0.997	D	0.93648	0.6970	10	0.87932	D	0	.	15.4604	0.75353	0.0:0.0:0.0:1.0	.	466;466	D6R9L6;Q9UKP5	.;ATS6_HUMAN	I	466	ENSP00000370443:N466I;ENSP00000423551:N466I	ENSP00000370443:N466I	N	-	2	0	ADAMTS6	64623027	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.578000	0.82498	2.117000	0.64856	0.533000	0.62120	AAT	0	0.458									A	64587271	T	A	64587271	1	1	676	0	1	0	0	0	0	0	0	0	270	1493	52	5		5	ADAMTS6	5	64587271	IGR	SNP	T	TCGA-HE-A5NK-01A-11D-A26P-10	27465491	64587271	116327989	25	37242											
UTP15	84135	hgsc.bcm.edu	37	5	72864379	72864379	+	Silent	SNP	T	T	A			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr5:72864379T>A	ENST00000296792.4	+	4	573	c.318T>A	c.(316-318)ctT>ctA	p.L106L	UTP15_ENST00000543251.1_5'UTR|UTP15_ENST00000508491.1_Silent_p.L87L|ANKRA2_ENST00000296785.3_5'Flank	NM_001284431.1|NM_032175.2	NP_001271360.1|NP_115551.2	Q8TED0	UTP15_HUMAN	UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae)	106					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)		GAGTTCAACTTTTTGATATAA	0.413																																																0													101	103	102					5																	72864379		2203	4300	6503	SO:0001819	synonymous_variant	84135			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.318T>A	chr5.hg19:g.72864379T>A			B4DU75|B4DXK8|Q6IA60|Q96E08|Q9H9F8	Silent	SNP	ENST00000296792.4	hg19	CCDS34186.1	.	.	.	.	.	.	.	.	.	.	T	10.81	1.454530	0.26161	.	.	ENSG00000164338	ENST00000509005	.	.	.	5.55	-2.87	0.05700	.	.	.	.	.	T	0.51500	0.1678	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49735	-0.8908	4	.	.	.	.	7.9204	0.29843	0.0:0.4287:0.3982:0.1731	.	.	.	.	Y	133	.	.	F	+	2	0	UTP15	72900135	0.042000	0.20092	0.996000	0.52242	0.996000	0.88848	-1.057000	0.03486	-0.143000	0.11334	0.533000	0.62120	TTT		0.413	UTP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368965.1	NM_032175		A	72864379	T	A	72864379	2	1	676	1	0	0	0	0	0	0	0	1	17102	1828	64	5		5	UTP15	5	72864379	Silent	SNP	T	TCGA-HE-A5NK-01A-11D-A26P-10	8277108	72864379	108050881	26	37243											
CCDC112	153733	hgsc.bcm.edu	37	5	114603580	114603581	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr5:114603580_114603581insTT	ENST00000512261.1	-	11	1749_1750	c.1333_1334insAA	c.(1333-1335)agafs	p.R445fs	CCDC112_ENST00000379611.5_Frame_Shift_Ins_p.R528fs|CCDC112_ENST00000506442.1_Frame_Shift_Ins_p.R413fs|CCDC112_ENST00000395557.4_Frame_Shift_Ins_p.R445fs			Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	445										endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		ATCTCATACTCTTCTCTGTATT	0.327																																																0																																										SO:0001589	frameshift_variant	153733			BC031242	CCDS4117.1, CCDS34213.1	5q22.3	2009-04-17			ENSG00000164221	ENSG00000164221			28599	protein-coding gene	gene with protein product						12477932	Standard	NM_001040440		Approved	MGC39633	uc003kqz.2	Q8NEF3	OTTHUMG00000128894	ENST00000512261.1:c.1332_1333dupAA	chr5.hg19:g.114603581_114603582dupTT	ENSP00000423712:p.Arg445fs		Q6A334	Frame_Shift_Ins	INS	ENST00000512261.1	hg19	CCDS4117.1																																																																																				0.327	CCDC112-003	PUTATIVE	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370999.1	NM_152549		TT	114603581	-	TT	114603580	7	5	676	1	0	1	1	0	0	0	0	0	2751	913	32	0	10	0	CCDC112	5	114603580	Frame_Shift_Ins	INS	-	TCGA-HE-A5NK-01A-11D-A26P-10	41739201	114603580	66311680	27	37244											
RAPGEF6	51735	hgsc.bcm.edu	37	5	130767032	130767032	+	Missense_Mutation	SNP	A	A	T			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr5:130767032A>T	ENST00000509018.1	-	26	4190	c.3985T>A	c.(3985-3987)Ttg>Atg	p.L1329M	RAPGEF6_ENST00000307984.5_Missense_Mutation_p.L1342M|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.L1337M|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.L1337M|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.L1379M	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1329	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)		GATGGCTTCAAGAGTGTCCAC	0.393																																					Melanoma(168;435 1955 13113 13877 23213)											0													72	72	72					5																	130767032		2197	4299	6496	SO:0001583	missense	51735			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.3985T>A	chr5.hg19:g.130767032A>T	ENSP00000421684:p.Leu1329Met		A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	hg19	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	A	4.759	0.141223	0.09083	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000514667	T;T;T;T;T	0.24908	1.92;1.83;1.83;1.92;2.01	5.11	2.68	0.31781	.	0.495083	0.22765	N	0.055912	T	0.10423	0.0255	N	0.08118	0	0.21933	N	0.999463	B;B;B;B;B	0.22983	0.01;0.078;0.01;0.017;0.01	B;B;B;B;B	0.27170	0.007;0.077;0.007;0.017;0.007	T	0.14476	-1.0471	10	0.33940	T	0.23	.	1.1646	0.01813	0.486:0.1362:0.2288:0.1489	.	1337;1337;1379;1342;1329	A3KN82;B7ZML2;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;RPGF6_HUMAN	M	1329;1342;1337;1337;1342;1379	ENSP00000421684:L1329M;ENSP00000309298:L1342M;ENSP00000426081:L1337M;ENSP00000296859:L1337M;ENSP00000426948:L1379M	ENSP00000426948:L1379M	L	-	1	2	RAPGEF6;FNIP1	130794931	0.923000	0.31300	0.787000	0.31911	0.394000	0.30568	0.496000	0.22499	0.899000	0.36444	0.533000	0.62120	TTG		0.393	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		T	130767032	A	T	130767032	3	4	676	1	0	0	0	0	1	0	0	0	13054	69	3	5	832	5	RAPGEF6	5	130767032	Missense_Mutation	SNP	A	TCGA-HE-A5NK-01A-11D-A26P-10	16163452	130767032	50148228	28	37245											
DEFB113	245927	hgsc.bcm.edu	37	6	49936558	49936558	+	Silent	SNP	T	T	C			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr6:49936558T>C	ENST00000398718.1	-	2	80	c.81A>G	c.(79-81)gaA>gaG	p.E27E		NM_001037729.1	NP_001032818.1	Q30KQ7	DB113_HUMAN	defensin, beta 113	27					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Lung NSC(77;0.042)					TCTCTGCAACTTCTCTTGTTT	0.363																																																0													95	92	93					6																	49936558		1859	4093	5952	SO:0001819	synonymous_variant	245927			DQ012017	CCDS43472.1	6p12.3	2010-03-30			ENSG00000214642	ENSG00000214642		"Defensins, beta"	18094	protein-coding gene	gene with protein product						11854508, 16033865	Standard	NM_001037729		Approved	DEFB-13	uc011dwq.2	Q30KQ7	OTTHUMG00000160210	ENST00000398718.1:c.81A>G	chr6.hg19:g.49936558T>C				Silent	SNP	ENST00000398718.1	hg19	CCDS43472.1																																																																																				0.363	DEFB113-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359666.1			C	49936558	T	C	49936558	2	2	676	1	0	0	0	0	0	0	0	1	4404	1606	56	3		3	DEFB113	6	49936558	Silent	SNP	T	TCGA-HE-A5NK-01A-11D-A26P-10		49936558	121178509	29	37246											
PKHD1	5314	hgsc.bcm.edu	37	6	51750667	51750667	+	Missense_Mutation	SNP	G	G	T			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr6:51750667G>T	ENST00000371117.3	-	45	7488	c.7213C>A	c.(7213-7215)Cag>Aag	p.Q2405K	PKHD1_ENST00000340994.4_Missense_Mutation_p.Q2405K	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2405					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)					AAGCTTACCTGGGCACCACCT	0.383																																																0													43	41	42					6																	51750667		2203	4300	6503	SO:0001583	missense	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.7213C>A	chr6.hg19:g.51750667G>T	ENSP00000360158:p.Gln2405Lys		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	hg19	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.841905	0.51057	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	T;T	0.79653	-1.29;-1.29	5.81	5.81	0.92471	Pectin lyase fold/virulence factor (1);Pectin lyase fold (1);	0.147468	0.48286	D	0.000193	T	0.69797	0.3151	M	0.67953	2.075	0.34697	D	0.726304	P;B;P	0.40000	0.698;0.313;0.698	B;B;B	0.35353	0.201;0.104;0.167	T	0.72704	-0.4213	10	0.27082	T	0.32	.	17.2257	0.86970	0.0:0.0:1.0:0.0	.	2405;2405;2405	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	K	2405	ENSP00000360158:Q2405K;ENSP00000341097:Q2405K	ENSP00000341097:Q2405K	Q	-	1	0	PKHD1	51858626	0.998000	0.40836	0.941000	0.38009	0.505000	0.33919	3.052000	0.49893	2.756000	0.94617	0.650000	0.86243	CAG		0.383	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		T	51750667	G	T	51750667	3	4	676	1	0	0	0	0	1	0	0	0	11973	1357	47	4	5142	4	PKHD1	6	51750667	Missense_Mutation	SNP	G	TCGA-HE-A5NK-01A-11D-A26P-10	1814109	51750667	119364400	30	37247											
ALDH8A1	64577	hgsc.bcm.edu	37	6	135260502	135260502	+	Missense_Mutation	SNP	A	A	G			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr6:135260502A>G	ENST00000265605.2	-	4	562	c.494T>C	c.(493-495)aTa>aCa	p.I165T	ALDH8A1_ENST00000367847.2_Intron|RP11-349J5.2_ENST00000416448.2_RNA|ALDH8A1_ENST00000367845.2_Missense_Mutation_p.I165T	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	165					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)		CGCTGGAGCTATCTTCCAGGT	0.542																																																0													100	87	91					6																	135260502		2203	4300	6503	SO:0001583	missense	64577			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.494T>C	chr6.hg19:g.135260502A>G	ENSP00000265605:p.Ile165Thr		B7Z521|O60793|Q24JS9|Q53GT3|Q5TI80	Missense_Mutation	SNP	ENST00000265605.2	hg19	CCDS5171.1	.	.	.	.	.	.	.	.	.	.	A	18.58	3.654610	0.67472	.	.	ENSG00000118514	ENST00000265605;ENST00000367845	T;T	0.78364	-1.17;-1.17	5.45	4.29	0.51040	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.097324	0.64402	D	0.000001	T	0.79805	0.4509	M	0.72118	2.19	0.80722	D	1	D;D	0.54397	0.958;0.966	P;D	0.64687	0.881;0.928	T	0.78919	-0.2014	10	0.35671	T	0.21	.	11.1526	0.48469	0.9277:0.0:0.0723:0.0	.	165;165	Q9H2A2-2;Q9H2A2	.;AL8A1_HUMAN	T	165	ENSP00000265605:I165T;ENSP00000356819:I165T	ENSP00000265605:I165T	I	-	2	0	ALDH8A1	135302195	1.000000	0.71417	0.338000	0.25549	0.733000	0.41908	7.522000	0.81844	0.909000	0.36697	0.460000	0.39030	ATA		0.542	ALDH8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042334.2			G	135260502	A	G	135260502	3	3	676	1	0	0	0	0	1	0	0	0	505	449	16	3	985	3	ALDH8A1	6	135260502	Missense_Mutation	SNP	A	TCGA-HE-A5NK-01A-11D-A26P-10	83509835	135260502	35854565	31	37248											
RBM16	22828	hgsc.bcm.edu	37	6	155154048	155154048	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr6:155154048G>A	ENST00000367178.3	+	20	3911	c.3335G>A	c.(3334-3336)gGt>gAt	p.G1112D	SCAF8_ENST00000417268.1_Missense_Mutation_p.G1112D|TIAM2_ENST00000461783.3_5'UTR|SCAF8_ENST00000367186.4_Missense_Mutation_p.G1178D	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	1112					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						GTCTATGGTGGTCCAAAAGGC	0.468																																																0													66	72	70					6																	155154048		2203	4300	6503	SO:0001583	missense	22828			AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"RNA binding motif (RRM) containing"	20959	protein-coding gene	gene with protein product			"RNA binding motif protein 16"	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.3335G>A	chr6.hg19:g.155154048G>A	ENSP00000356146:p.Gly1112Asp		B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Missense_Mutation	SNP	ENST00000367178.3	hg19	CCDS5247.1	.	.	.	.	.	.	.	.	.	.	G	19.22	3.784709	0.70222	.	.	ENSG00000213079;ENSG00000213079;ENSG00000213079;ENSG00000146426	ENST00000367178;ENST00000417268;ENST00000367186;ENST00000528928	T;T;T	0.61274	0.18;0.18;0.12	5.97	5.97	0.96955	.	0.000000	0.64402	U	0.000001	T	0.63534	0.2519	L	0.29908	0.895	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	0.66388	-0.5936	10	0.87932	D	0	.	20.4238	0.99064	0.0:0.0:1.0:0.0	.	1157;1178;1112	B7Z876;B7Z888;Q9UPN6	.;.;SCAF8_HUMAN	D	1112;1112;1178;73	ENSP00000356146:G1112D;ENSP00000413098:G1112D;ENSP00000356154:G1178D	ENSP00000356146:G1112D	G	+	2	0	TIAM2;SCAF8	155195740	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	5.774000	0.68906	2.828000	0.97474	0.655000	0.94253	GGT		0.468	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042798.1	NM_014892		A	155154048	G	A	155154048	3	1	676	1	0	0	0	0	1	0	0	0	13124	1261	44	2	3413	2	RBM16	6	155154048	Missense_Mutation	SNP	G	TCGA-HE-A5NK-01A-11D-A26P-10	19893546	155154048	15961019	32	37249											
LPA	4018	hgsc.bcm.edu	37	6	161071523	161071523	+	Missense_Mutation	SNP	G	G	T			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr6:161071523G>T	ENST00000316300.5	-	2	100	c.56C>A	c.(55-57)cCt>cAt	p.P19H	LPA_ENST00000447678.1_Missense_Mutation_p.P19H			P08519	APOA_HUMAN	lipoprotein, Lp(a)	2527					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)	GCTTTGCTCAGGTGCTGCTAA	0.433																																																0													129	134	132					6																	161071523		2186	4297	6483	SO:0001583	missense	4018			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.56C>A	chr6.hg19:g.161071523G>T	ENSP00000321334:p.Pro19His		Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	hg19	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	g	7.332	0.619100	0.14129	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.61627	0.09;0.09	2.71	2.71	0.32032	.	.	.	.	.	T	0.32164	0.0820	L	0.43152	1.355	0.09310	N	1	.	.	.	.	.	.	T	0.16719	-1.0393	7	0.20519	T	0.43	.	9.0216	0.36204	0.0:0.0:1.0:0.0	.	.	.	.	H	19	ENSP00000321334:P19H;ENSP00000395608:P19H	ENSP00000321334:P19H	P	-	2	0	LPA	160991513	0.652000	0.27349	0.137000	0.22149	0.005000	0.04900	4.568000	0.60857	1.519000	0.48950	0.499000	0.49734	CCT		0.433	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		T	161071523	G	T	161071523	3	4	676	1	0	0	0	0	1	0	0	0	8905	1000	35	4	6218	4	LPA	6	161071523	Missense_Mutation	SNP	G	TCGA-HE-A5NK-01A-11D-A26P-10	5917475	161071523	10043544	33	37250											
NPTX2	4885	hgsc.bcm.edu	37	7	98257767	98257767	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr7:98257767delC	ENST00000265634.3	+	5	1287	c.1122delC	c.(1120-1122)agcfs	p.S374fs		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	374	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)			GGGAGCTCAGCCAGTTCAACA	0.567																																																0													89	70	76					7																	98257767		2203	4300	6503	SO:0001589	frameshift_variant	4885				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.1122delC	chr7.hg19:g.98257767delC	ENSP00000265634:p.Ser374fs		A4D267|Q86XV7|Q96G70	Frame_Shift_Del	DEL	ENST00000265634.3	hg19	CCDS5657.1																																																																																				0.567	NPTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334982.1	NM_002523		-	98257767	C	-	98257767	7	5	676	1	0	1	0	1	0	0	0	0	10605	738	26	0	1140	0	NPTX2	7	98257767	Frame_Shift_Del	DEL	C	TCGA-HE-A5NK-01A-11D-A26P-10		98257767	60880896	34	37251											
METTL2B	55798	hgsc.bcm.edu	37	7	128119287	128119287	+	Missense_Mutation	SNP	G	G	T			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr7:128119287G>T	ENST00000262432.8	+	3	315	c.278G>T	c.(277-279)aGa>aTa	p.R93I	RP11-212P7.3_ENST00000462662.1_RNA|METTL2B_ENST00000480046.1_Missense_Mutation_p.R28I	NM_018396.2	NP_060866.2	Q6P1Q9	MET2B_HUMAN	methyltransferase like 2B	93					tRNA methylation (GO:0030488)		tRNA (cytosine) methyltransferase activity (GO:0016427)			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						TTCAAGGATAGACATTGGCTT	0.348																																																0													46	48	47					7																	128119287		2202	4296	6498	SO:0001583	missense	55798			AK002212	CCDS5803.2	7q32.2	2012-06-12	2006-02-09	2006-02-09	ENSG00000165055	ENSG00000165055			18272	protein-coding gene	gene with protein product		607846	"methyltransferase like 2"	METTL2		11738826	Standard	NM_018396		Approved	METL, FLJ11350	uc003vnf.3	Q6P1Q9	OTTHUMG00000143738	ENST00000262432.8:c.278G>T	chr7.hg19:g.128119287G>T	ENSP00000262432:p.Arg93Ile		B4DZ68|Q0IJ54|Q3B7J1	Missense_Mutation	SNP	ENST00000262432.8	hg19	CCDS5803.2	.	.	.	.	.	.	.	.	.	.	G	15.00	2.704511	0.48412	.	.	ENSG00000165055	ENST00000462662;ENST00000262432;ENST00000480046	T;T;T	0.04654	3.58;3.58;3.58	2.86	1.97	0.26223	.	0.000000	0.85682	D	0.000000	T	0.24624	0.0597	M	0.94021	3.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.01583	-1.1319	10	0.87932	D	0	-0.8843	7.7593	0.28942	0.1338:0.0:0.8662:0.0	.	28;93	Q6P1Q9-2;Q6P1Q9	.;MTL2B_HUMAN	I	87;93;28	ENSP00000418634:R87I;ENSP00000262432:R93I;ENSP00000418402:R28I	ENSP00000262432:R93I	R	+	2	0	METTL2B	127906523	1.000000	0.71417	0.984000	0.44739	0.344000	0.29017	9.445000	0.97587	0.540000	0.28808	-0.491000	0.04670	AGA		0.348	METTL2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289817.1	NM_018396		T	128119287	G	T	128119287	3	4	676	1	0	0	0	0	1	0	0	0	9502	942	33	4	288	4	METTL2B	7	128119287	Missense_Mutation	SNP	G	TCGA-HE-A5NK-01A-11D-A26P-10	29861520	128119287	31019376	35	37252											
TAS2R39	259285	hgsc.bcm.edu	37	7	142880641	142880641	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr7:142880641G>A	ENST00000446620.1	+	1	130	c.130G>A	c.(130-132)Gaa>Aaa	p.E44K		NM_176881.2	NP_795362.2	P59534	T2R39_HUMAN	taste receptor, type 2, member 39	44					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)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					TTTACTTGCTGAATACCTCAT	0.413																																																0													145	132	136					7																	142880641		1939	4149	6088	SO:0001583	missense	259285			AF494230	CCDS47729.1	7q34	2012-08-22			ENSG00000236398	ENSG00000236398		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18886	protein-coding gene	gene with protein product						12379855	Standard	NM_176881		Approved		uc011ksw.2	P59534	OTTHUMG00000152636	ENST00000446620.1:c.130G>A	chr7.hg19:g.142880641G>A	ENSP00000405095:p.Glu44Lys		A4FUI7|Q3ZCN6|Q645W4	Missense_Mutation	SNP	ENST00000446620.1	hg19	CCDS47729.1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.876777	0.51801	.	.	ENSG00000236398	ENST00000446620	T	0.37411	1.2	4.66	4.66	0.58398	.	.	.	.	.	T	0.65196	0.2668	M	0.89478	3.035	0.29517	N	0.853797	D	0.71674	0.998	D	0.68765	0.96	T	0.65676	-0.6110	9	0.72032	D	0.01	.	14.7561	0.69567	0.0:0.0:1.0:0.0	.	44	P59534	T2R39_HUMAN	K	44	ENSP00000405095:E44K	ENSP00000405095:E44K	E	+	1	0	TAS2R39	142590763	0.321000	0.24625	0.437000	0.26809	0.026000	0.11368	1.677000	0.37576	2.583000	0.87209	0.557000	0.71058	GAA		0.413	TAS2R39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327090.2	NM_176881		A	142880641	G	A	142880641	3	1	676	1	0	0	0	0	1	0	0	0	15581	1291	45	2	132	2	TAS2R39	7	142880641	Missense_Mutation	SNP	G	TCGA-HE-A5NK-01A-11D-A26P-10	14761354	142880641	16258022	36	37253											
REPIN1	29803	hgsc.bcm.edu	37	7	150069172	150069172	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr7:150069172C>A	ENST00000425389.2	+	1	920	c.842C>A	c.(841-843)tCg>tAg	p.S281*	REPIN1_ENST00000444957.1_Nonsense_Mutation_p.S281*|REPIN1_ENST00000540729.1_Nonsense_Mutation_p.S281*|REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000489432.2_Nonsense_Mutation_p.S338*|REPIN1_ENST00000466559.1_3'UTR|REPIN1_ENST00000397281.2_Nonsense_Mutation_p.S281*|RP4-584D14.5_ENST00000488310.1_RNA	NM_014374.3	NP_055189.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	281					DNA replication (GO:0006260)|regulation of fatty acid transport (GO:2000191)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cytosolic ribosome (GO:0022626)|lipid particle (GO:0005811)|nuclear membrane (GO:0031965)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			TATCTGACTTCGCACCGGCGC	0.637																																																0													18	23	22					7																	150069172		2160	4279	6439	SO:0001587	stop_gained	29803			AF201303	CCDS43677.1, CCDS47745.1	7q36.1	2013-01-08	2003-08-07	2003-08-08				"Zinc fingers, C2H2-type"	17922	protein-coding gene	gene with protein product	"replication initiation region protein (60kD)", "zinc finger protein AP4", "zinc finger protein 464 (RIP60)"		"zinc finger protein 464 (RIP60)"	ZNF464		10606657	Standard	NM_013400		Approved	RIP60, AP4, H_DJ0584D14.12, Zfp464	uc010lpr.1	Q9BWE0		ENST00000425389.2:c.842C>A	chr7.hg19:g.150069172C>A	ENSP00000388287:p.Ser281*		C9J3L7|D3DWZ1|Q7LE03|Q9BUZ6|Q9NZH2|Q9UMP5	Nonsense_Mutation	SNP	ENST00000425389.2	hg19	CCDS43677.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.090002	0.76756	.	.	ENSG00000214022	ENST00000540729;ENST00000397281;ENST00000444957;ENST00000489432;ENST00000475514;ENST00000488943;ENST00000425389	.	.	.	4.91	4.91	0.64330	.	.	.	.	.	.	.	.	.	.	.	0.22017	N	0.999416	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-5.8606	11.3408	0.49531	0.0:0.8167:0.1833:0.0	.	.	.	.	X	281;281;281;338;340;341;281	.	ENSP00000380451:S281X	S	+	2	0	REPIN1	149700105	0.000000	0.05858	0.985000	0.45067	0.853000	0.48598	-1.414000	0.02471	2.550000	0.86006	0.462000	0.41574	TCG		0.637	REPIN1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376940.1	NM_014374		A	150069172	C	A	150069172	4	1	676	1	0	0	0	0	0	1	0	0	13233	893	31	4	1019	4	REPIN1	7	150069172	Nonsense_Mutation	SNP	C	TCGA-HE-A5NK-01A-11D-A26P-10	7188531	150069172	9069491	37	37254											
MTUS1	57509	hgsc.bcm.edu	37	8	17612803	17612803	+	Missense_Mutation	SNP	A	A	G	rs374892928		TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr8:17612803A>G	ENST00000262102.6	-	2	738	c.514T>C	c.(514-516)Ttt>Ctt	p.F172L	MTUS1_ENST00000381869.3_Missense_Mutation_p.F172L|MTUS1_ENST00000381862.3_Missense_Mutation_p.F172L|MTUS1_ENST00000519263.1_Missense_Mutation_p.F172L	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	172					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		TGTGATATAAAGGTGCAGTTA	0.438																																																0													146	132	136					8																	17612803		1963	4150	6113	SO:0001583	missense	57509			AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"AT2 receptor-interacting protein", "AT2R binding protein", "mitochondrial tumor suppressor gene 1"	609589	"mitochondrial tumor suppressor 1"			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.514T>C	chr8.hg19:g.17612803A>G	ENSP00000262102:p.Phe172Leu		A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Missense_Mutation	SNP	ENST00000262102.6	hg19	CCDS43717.1	.	.	.	.	.	.	.	.	.	.	A	13.70	2.316888	0.40996	.	.	ENSG00000129422	ENST00000381869;ENST00000262102;ENST00000519263;ENST00000381862	T;T;T;T	0.30182	2.43;2.5;2.43;1.54	4.09	2.91	0.33838	.	0.407817	0.21445	N	0.074440	T	0.21921	0.0528	L	0.32530	0.975	0.09310	N	0.999999	B;B;P	0.44139	0.356;0.206;0.827	B;B;B	0.43331	0.104;0.052;0.416	T	0.05886	-1.0858	9	.	.	.	-5.1088	5.1218	0.14863	0.5864:0.2499:0.0:0.1636	.	172;172;172	Q9ULD2-5;Q9ULD2-2;Q9ULD2	.;.;MTUS1_HUMAN	L	172	ENSP00000371293:F172L;ENSP00000262102:F172L;ENSP00000430167:F172L;ENSP00000371286:F172L	.	F	-	1	0	MTUS1	17657083	0.265000	0.24102	0.123000	0.21794	0.013000	0.08279	1.311000	0.33562	0.883000	0.36040	-0.490000	0.04691	TTT		0.438	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031		G	17612803	A	G	17612803	3	3	676	1	0	0	0	0	1	0	0	0	9967	72	3	3	3673	3	MTUS1	8	17612803	Missense_Mutation	SNP	A	TCGA-HE-A5NK-01A-11D-A26P-10		17612803	128751219	38	37255											
MYST3	7994	hgsc.bcm.edu	37	8	41794945	41794945	+	Missense_Mutation	SNP	A	A	T			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr8:41794945A>T	ENST00000396930.3	-	17	3724	c.3181T>A	c.(3181-3183)Tta>Ata	p.L1061I	KAT6A_ENST00000265713.2_Missense_Mutation_p.L1061I|KAT6A_ENST00000406337.1_Missense_Mutation_p.L1061I	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1061					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)										GTGGGTTCTAATCTTGGCATT	0.428																																																0													120	115	117					8																	41794945		2203	4300	6503	SO:0001583	missense	7994			U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	13013	protein-coding gene	gene with protein product	"Monocytic leukemia zinc finger protein"	601408	"runt-related transcription factor binding protein 2", "MYST histone acetyltransferase (monocytic leukemia) 3"	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.3181T>A	chr8.hg19:g.41794945A>T	ENSP00000380136:p.Leu1061Ile		Q76L81	Missense_Mutation	SNP	ENST00000396930.3	hg19	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	A	13.75	2.330228	0.41297	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000418721	T;T;T	0.66099	-0.19;-0.19;-0.19	5.63	3.27	0.37495	.	0.000000	0.53938	D	0.000041	T	0.73853	0.3640	M	0.69823	2.125	0.42293	D	0.992149	D	0.69078	0.997	D	0.78314	0.991	T	0.72571	-0.4253	10	0.62326	D	0.03	-9.4799	7.9093	0.29780	0.6901:0.0:0.3099:0.0	.	1061	Q92794	KAT6A_HUMAN	I	1061;1061;1061;641	ENSP00000265713:L1061I;ENSP00000385888:L1061I;ENSP00000380136:L1061I	ENSP00000265713:L1061I	L	-	1	2	KAT6A	41914102	0.999000	0.42202	0.996000	0.52242	0.990000	0.78478	3.600000	0.54052	0.436000	0.26393	0.528000	0.53228	TTA		0.428	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		T	41794945	A	T	41794945	3	4	676	1	0	0	0	0	1	0	0	0	10106	98	4	5	2841	5	MYST3	8	41794945	Missense_Mutation	SNP	A	TCGA-HE-A5NK-01A-11D-A26P-10	24182142	41794945	104569077	39	37256											
WWP1	11059	hgsc.bcm.edu	37	8	87423961	87423961	+	Missense_Mutation	SNP	G	G	C			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr8:87423961G>C	ENST00000517970.1	+	9	1226	c.919G>C	c.(919-921)Gct>Cct	p.A307P	WWP1_ENST00000341922.2_Missense_Mutation_p.A177P|WWP1_ENST00000265428.4_Missense_Mutation_p.A307P|WWP1_ENST00000349423.2_Missense_Mutation_p.A89P	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	307					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						GGAATCTGAAGCTAGAAGTAT	0.408																																																0													78	76	77					8																	87423961		2203	4300	6503	SO:0001583	missense	11059			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.919G>C	chr8.hg19:g.87423961G>C	ENSP00000427793:p.Ala307Pro		O00307|Q5YLC1|Q96BP4	Missense_Mutation	SNP	ENST00000517970.1	hg19	CCDS6242.1	.	.	.	.	.	.	.	.	.	.	G	5.203	0.222924	0.09863	.	.	ENSG00000123124	ENST00000517970;ENST00000265428;ENST00000341922;ENST00000349423	T;T;T;T	0.46451	0.89;0.89;0.87;0.89	5.69	4.81	0.61882	.	0.669254	0.14402	N	0.321845	T	0.21962	0.0529	N	0.08118	0	0.39335	D	0.965486	B;B	0.06786	0.0;0.001	B;B	0.09377	0.004;0.003	T	0.08513	-1.0718	10	0.30078	T	0.28	.	7.2873	0.26346	0.1504:0.1403:0.7094:0.0	.	89;307	Q9H0M0-6;Q9H0M0	.;WWP1_HUMAN	P	307;307;177;89	ENSP00000427793:A307P;ENSP00000265428:A307P;ENSP00000340564:A177P;ENSP00000342665:A89P	ENSP00000265428:A307P	A	+	1	0	WWP1	87493077	0.557000	0.26546	0.093000	0.20910	0.015000	0.08874	0.271000	0.18626	1.410000	0.46936	0.650000	0.86243	GCT		0.408	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374755.1	NM_007013		C	87423961	G	C	87423961	3	2	676	1	0	0	0	0	1	0	0	0	17420	971	34	4	945	4	WWP1	8	87423961	Missense_Mutation	SNP	G	TCGA-HE-A5NK-01A-11D-A26P-10	45629016	87423961	58940061	40	37257											
PLIN2	123	hgsc.bcm.edu	37	9	19126158	19126158	+	Silent	SNP	C	C	A			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr9:19126158C>A	ENST00000276914.2	-	3	359	c.180G>T	c.(178-180)gtG>gtT	p.V60V	PLIN2_ENST00000380464.3_Silent_p.V60V|PLIN2_ENST00000380465.3_Silent_p.V60V|PLIN2_ENST00000411567.1_Silent_p.V60V	NM_001122.3	NP_001113.2	Q99541	PLIN2_HUMAN	perilipin 2	60					cellular lipid metabolic process (GO:0044255)|lipid storage (GO:0019915)|long-chain fatty acid transport (GO:0015909)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						TGGTCATGGCCACGGAGGTGA	0.527																																																0													160	124	136					9																	19126158		2203	4300	6503	SO:0001819	synonymous_variant	123			X97324	CCDS6490.1	9p22.1	2009-08-12	2009-08-12	2009-08-12	ENSG00000147872	ENSG00000147872		"Perilipins"	248	protein-coding gene	gene with protein product	"adipophilin"	103195	"adipose differentiation-related protein"	ADFP		9003395, 19638644	Standard	NM_001122		Approved	ADRP	uc003zno.3	Q99541	OTTHUMG00000019624	ENST00000276914.2:c.180G>T	chr9.hg19:g.19126158C>A			Q9BSC3	Silent	SNP	ENST00000276914.2	hg19	CCDS6490.1																																																																																				0.527	PLIN2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051835.1	NM_001122		A	19126158	C	A	19126158	2	1	676	1	0	0	0	0	0	0	0	1	12092	581	21	4		4	PLIN2	9	19126158	Silent	SNP	C	TCGA-HE-A5NK-01A-11D-A26P-10		19126158	122087273	41	37258											
AGTPBP1	23287	hgsc.bcm.edu	37	9	88233969	88233969	+	Missense_Mutation	SNP	C	C	G			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr9:88233969C>G	ENST00000357081.3	-	17	2408	c.2264G>C	c.(2263-2265)gGa>gCa	p.G755A	AGTPBP1_ENST00000376109.3_Missense_Mutation_p.G767A|AGTPBP1_ENST00000432218.1_Missense_Mutation_p.G593A|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.G715A|AGTPBP1_ENST00000337006.4_3'UTR			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	755					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						TGGTCGCATTCCACTGACTTC	0.328																																																0													92	93	92					9																	88233969		2203	4300	6503	SO:0001583	missense	23287			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.2264G>C	chr9.hg19:g.88233969C>G	ENSP00000349592:p.Gly755Ala		B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Missense_Mutation	SNP	ENST00000357081.3	hg19		.	.	.	.	.	.	.	.	.	.	C	16.55	3.154898	0.57259	.	.	ENSG00000135049	ENST00000357081;ENST00000376083;ENST00000376109;ENST00000432218	T;T;T;T	0.31510	1.49;1.49;1.49;1.49	5.38	5.38	0.77491	.	0.097920	0.64402	D	0.000001	T	0.55593	0.1930	M	0.67517	2.055	0.80722	D	1	B;D;D;P	0.76494	0.34;0.992;0.999;0.729	B;P;D;B	0.73708	0.257;0.872;0.981;0.439	T	0.54057	-0.8350	10	0.48119	T	0.1	-15.9497	19.1333	0.93415	0.0:1.0:0.0:0.0	.	767;755;593;715	Q9UPW5-3;Q9UPW5;B4DHX2;Q9UPW5-2	.;CBPC1_HUMAN;.;.	A	755;715;767;593	ENSP00000349592:G755A;ENSP00000365251:G715A;ENSP00000365277:G767A;ENSP00000402804:G593A	ENSP00000349592:G755A	G	-	2	0	AGTPBP1	87423789	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.890000	0.69774	2.532000	0.85374	0.650000	0.86243	GGA		0.328	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1	NM_015239		G	88233969	C	G	88233969	3	3	676	1	0	0	0	0	1	0	0	0	400	855	30	4	1456	4	AGTPBP1	9	88233969	Missense_Mutation	SNP	C	TCGA-HE-A5NK-01A-11D-A26P-10	69107811	88233969	52979462	42	37259											
PHPT1	29085	hgsc.bcm.edu	37	9	139744582	139744582	+	Missense_Mutation	SNP	A	A	G			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr9:139744582A>G	ENST00000247665.10	+	2	615	c.278A>G	c.(277-279)tAt>tGt	p.Y93C	PHPT1_ENST00000371661.1_Missense_Mutation_p.Y93C|MAMDC4_ENST00000445819.1_5'Flank|PHPT1_ENST00000492540.1_3'UTR|PHPT1_ENST00000545326.1_Missense_Mutation_p.Y93C|MAMDC4_ENST00000317446.2_5'Flank	NM_014172.4	NP_054891.2	Q9NRX4	PHP14_HUMAN	phosphohistidine phosphatase 1	93					negative regulation of ATP citrate synthase activity (GO:2000984)|negative regulation of lyase activity (GO:0051350)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-histidine dephosphorylation (GO:0035971)|positive regulation of cell motility (GO:2000147)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|protein dephosphorylation (GO:0006470)|regulation of actin cytoskeleton reorganization (GO:2000249)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	calcium channel inhibitor activity (GO:0019855)|ion channel binding (GO:0044325)|phosphohistidine phosphatase activity (GO:0008969)|phosphoprotein phosphatase activity (GO:0004721)			NS(1)|large_intestine(1)|lung(1)	3	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		GTGTACGGCTATTCCATGGTG	0.662																																																0													93	86	88					9																	139744582		2202	4300	6502	SO:0001583	missense	29085			AF131857	CCDS7009.1, CCDS48060.1	9q34.3	2008-02-05			ENSG00000054148	ENSG00000054148	3.1.3.-		30033	protein-coding gene	gene with protein product	"phosphohistidine phosphatase 14kDa", " sex-regulated protein janus-a"	610167				11042152, 8619474	Standard	NM_014172		Approved	PHP14, HSPC141, CGI-202, DKFZp564M173, bA216L13.10	uc004cjq.4	Q9NRX4	OTTHUMG00000020950	ENST00000247665.10:c.278A>G	chr9.hg19:g.139744582A>G	ENSP00000247665:p.Tyr93Cys		B1AMX0|B1AMX1|Q9H0Y3	Missense_Mutation	SNP	ENST00000247665.10	hg19	CCDS7009.1	.	.	.	.	.	.	.	.	.	.	.	22.3	4.267724	0.80469	.	.	ENSG00000054148	ENST00000371661;ENST00000545326;ENST00000247665	.	.	.	4.61	4.61	0.57282	.	.	.	.	.	T	0.80979	0.4728	M	0.88450	2.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.83346	-0.0005	8	0.46703	T	0.11	-0.3441	13.1692	0.59589	1.0:0.0:0.0:0.0	.	93;93	Q9NRX4-2;Q9NRX4	.;PHP14_HUMAN	C	93	.	ENSP00000247665:Y93C	Y	+	2	0	PHPT1	138864403	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	5.655000	0.67981	1.703000	0.51240	0.374000	0.22700	TAT		0.662	PHPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055150.1	NM_014172		G	139744582	A	G	139744582	3	3	676	1	0	0	0	0	1	0	0	0	11862	449	16	3	284	3	PHPT1	9	139744582	Missense_Mutation	SNP	A	TCGA-HE-A5NK-01A-11D-A26P-10	51510613	139744582	1468849	43	37260											
NOLC1	9221	hgsc.bcm.edu	37	10	103917872	103917872	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr10:103917872G>A	ENST00000605788.1	+	5	743	c.508G>A	c.(508-510)Gat>Aat	p.D170N	NOLC1_ENST00000405356.1_Missense_Mutation_p.D170N|NOLC1_ENST00000603742.1_5'UTR|NOLC1_ENST00000488254.2_Missense_Mutation_p.D171N	NM_001284389.1|NM_004741.3	NP_001271318.1|NP_004732.2	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	170	11 X 12 AA approximate repeats of an acidic serine cluster.				cell cycle (GO:0007049)|mitotic nuclear division (GO:0007067)|nucleolus organization (GO:0007000)|rRNA processing (GO:0006364)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		CTCTGATTCTGATTCTGACTC	0.488																																																0													88	90	89					10																	103917872		2203	4300	6503	SO:0001583	missense	9221			Z34289	CCDS7530.1, CCDS65925.1, CCDS65926.1	10q24.32	2008-08-01			ENSG00000166197	ENSG00000166197			15608	protein-coding gene	gene with protein product		602394				7657714, 10567578	Standard	XM_005270273		Approved	P130, KIAA0035, NOPP140, NOPP130	uc001kuo.2	Q14978	OTTHUMG00000018944	ENST00000605788.1:c.508G>A	chr10.hg19:g.103917872G>A	ENSP00000474710:p.Asp170Asn		Q15030|Q5VV70|Q9BUV3	Missense_Mutation	SNP	ENST00000605788.1	hg19	CCDS7530.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.948000	0.73787	.	.	ENSG00000166197	ENST00000405356;ENST00000370007	T	0.52057	0.68	5.72	5.72	0.89469	.	0.256859	0.33834	N	0.004509	T	0.68796	0.3040	M	0.77313	2.365	0.80722	D	1	D;D;D	0.63046	0.992;0.992;0.986	P;P;P	0.61592	0.891;0.891;0.78	T	0.71341	-0.4622	10	0.66056	D	0.02	-7.6697	18.8652	0.92289	0.0:0.0:1.0:0.0	.	171;170;170	Q14978-3;Q14978-2;Q14978	.;.;NOLC1_HUMAN	N	170	ENSP00000385410:D170N	ENSP00000359024:D170N	D	+	1	0	NOLC1	103907862	1.000000	0.71417	0.959000	0.39883	0.796000	0.44982	6.775000	0.75018	2.709000	0.92574	0.561000	0.74099	GAT		0.488	NOLC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050012.2	NM_004741		A	103917872	G	A	103917872	3	1	676	1	0	0	0	0	1	0	0	0	10531	1290	45	2	526	2	NOLC1	10	103917872	Missense_Mutation	SNP	G	TCGA-HE-A5NK-01A-11D-A26P-10		103917872	31616875	44	37261											
DNHD1	144132	hgsc.bcm.edu	37	11	6561201	6561201	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr11:6561201delC	ENST00000527990.2	+	16	3516	c.3516delC	c.(3514-3516)ttcfs	p.F1172fs	DNHD1_ENST00000254579.6_Frame_Shift_Del_p.F1172fs			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	1172					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TGCTCAACTTCATCCTGCATG	0.582																																																0													62	66	65					11																	6561201		692	1591	2283	SO:0001589	frameshift_variant	144132			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 47", "dynein heavy chain domain 1-like", "coiled-coil domain containing 35"	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.3516delC	chr11.hg19:g.6561201delC	ENSP00000436180:p.Phe1172fs		Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Frame_Shift_Del	DEL	ENST00000527990.2	hg19	CCDS44532.1																																																																																				0.582	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		-	6561201	C	-	6561201	7	5	676	1	0	1	0	1	0	0	0	0	4670	825	29	0	3587	0	DNHD1	11	6561201	Frame_Shift_Del	DEL	C	TCGA-HE-A5NK-01A-11D-A26P-10		6561201	128445315	45	37262											
OR2AG2	338755	hgsc.bcm.edu	37	11	6789370	6789370	+	Silent	SNP	G	G	T			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr11:6789370G>T	ENST00000338569.2	-	1	916	c.819C>A	c.(817-819)atC>atA	p.I273I		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	273						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)		AAACAGAGATGATGTTGTCTT	0.512																																																0													151	138	142					11																	6789370		2201	4296	6497	SO:0001819	synonymous_variant	338755			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.819C>A	chr11.hg19:g.6789370G>T				Silent	SNP	ENST00000338569.2	hg19	CCDS31413.1																																																																																				0.512	OR2AG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386775.1	NM_001004490		T	6789370	G	T	6789370	2	4	676	1	0	0	0	0	0	0	0	1	10987	1280	45	4		4	OR2AG2	11	6789370	Silent	SNP	G	TCGA-HE-A5NK-01A-11D-A26P-10	228169	6789370	128217146	46	37263											
RBM14	10432	hgsc.bcm.edu	37	11	66384484	66384484	+	Missense_Mutation	SNP	T	T	C			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr11:66384484T>C	ENST00000310137.4	+	1	432	c.293T>C	c.(292-294)cTc>cCc	p.L98P	RBM14_ENST00000443702.1_Missense_Mutation_p.L98P|RBM14_ENST00000409372.1_Missense_Mutation_p.L98P|RBM14-RBM4_ENST00000511114.1_3'UTR|RBM14-RBM4_ENST00000500635.2_Missense_Mutation_p.L98P|RBM4_ENST00000514361.3_Missense_Mutation_p.L98P|RBM4_ENST00000503028.2_5'UTR|RBM14_ENST00000409738.4_Missense_Mutation_p.L98P|RNU4-39P_ENST00000362455.1_RNA|RBM14-RBM4_ENST00000412278.2_Missense_Mutation_p.L98P|RBM14_ENST00000393979.3_Missense_Mutation_p.L98P	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	98	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|glucocorticoid receptor signaling pathway (GO:0042921)|histone deacetylation (GO:0016575)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to hormone (GO:0009725)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						CTGCGCAGCCTCTTCGAGCGC	0.647																																																0													52	62	59					11																	66384484		2141	4173	6314	SO:0001583	missense	10432			AF080561	CCDS8147.1, CCDS55772.1, CCDS55773.1	11q13.2	2013-02-12			ENSG00000239306	ENSG00000239306		"RNA binding motif (RRM) containing"	14219	protein-coding gene	gene with protein product	"coactivator activator", "SYT interacting protein"	612409				9285794	Standard	NM_006328		Approved	SIP, SYTIP1, COAA, DKFZp779J0927	uc001oit.3	Q96PK6	OTTHUMG00000140380	ENST00000310137.4:c.293T>C	chr11.hg19:g.66384484T>C	ENSP00000311747:p.Leu98Pro		B0LM41|B3KMN4|D6RGD8|O75932|Q2PYN1|Q53GV1|Q68DQ9|Q96PK5	Missense_Mutation	SNP	ENST00000310137.4	hg19	CCDS8147.1	.	.	.	.	.	.	.	.	.	.	T	19.10	3.761857	0.69763	.	.	ENSG00000239306;ENSG00000239306;ENSG00000239306;ENSG00000239306;ENSG00000239306;ENSG00000248643;ENSG00000248643	ENST00000310137;ENST00000393979;ENST00000409372;ENST00000443702;ENST00000409738;ENST00000412278;ENST00000500635	T;T;T;T;T;T;T	0.23754	1.89;1.89;1.89;1.89;1.89;1.89;1.89	5.19	4.01	0.46588	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.257070	0.27811	N	0.017747	T	0.58977	0.2160	H	0.94808	3.585	0.80722	D	1	D;D;D;B	0.89917	1.0;0.999;0.995;0.213	D;D;D;B	0.87578	0.998;0.964;0.974;0.398	T	0.68002	-0.5524	10	0.59425	D	0.04	-4.9687	10.4857	0.44719	0.0:0.0:0.1621:0.8379	.	98;98;98;98	B0LM41;Q96PK6-2;Q2PYN1;Q96PK6	.;.;.;RBM14_HUMAN	P	98	ENSP00000311747:L98P;ENSP00000377548:L98P;ENSP00000386518:L98P;ENSP00000414650:L98P;ENSP00000386995:L98P;ENSP00000388552:L98P;ENSP00000421279:L98P	ENSP00000311747:L98P	L	+	2	0	RBM14;RBM14-RBM4	66141060	0.914000	0.31030	1.000000	0.80357	0.966000	0.64601	1.791000	0.38744	1.971000	0.57363	0.459000	0.35465	CTC		0.647	RBM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277128.1	NM_006328		C	66384484	T	C	66384484	3	2	676	1	0	0	0	0	1	0	0	0	13121	1551	54	3	295	3	RBM14	11	66384484	Missense_Mutation	SNP	T	TCGA-HE-A5NK-01A-11D-A26P-10	59595114	66384484	68622032	47	37264											
MAML2	84441	hgsc.bcm.edu	37	11	95712439	95712440	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr11:95712439_95712440insT	ENST00000524717.1	-	5	4427_4428	c.3143_3144insA	c.(3142-3144)aatfs	p.N1048fs		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	1048					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				TGGGTCTGAGATTCAGACCCCT	0.5			T	"MECT1, CRTC3"	salivary gland mucoepidermoid																																		Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	0																																										SO:0001589	frameshift_variant	84441			AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"mastermind (Drosophila)-like 2"			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.3144dupA	chr11.hg19:g.95712441_95712441dupT	ENSP00000434552:p.Asn1048fs		A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Frame_Shift_Ins	INS	ENST00000524717.1	hg19	CCDS44714.1																																																																																				0.5	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1			T	95712440	-	T	95712439	7	5	676	1	0	1	1	0	0	0	0	0	9208	330	12	0	330	0	MAML2	11	95712439	Frame_Shift_Ins	INS	-	TCGA-HE-A5NK-01A-11D-A26P-10	29327955	95712439	39294077	48	37265											
KIAA1377	57562	hgsc.bcm.edu	37	11	101832493	101832493	+	Missense_Mutation	SNP	C	C	G			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr11:101832493C>G	ENST00000263468.8	+	6	997	c.727C>G	c.(727-729)Cag>Gag	p.Q243E	KIAA1377_ENST00000537689.1_Missense_Mutation_p.Q44E	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	243										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)		TGAAGTTAATCAGATAACCAA	0.313																																																0													39	42	41					11																	101832493		2199	4295	6494	SO:0001583	missense	57562			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.727C>G	chr11.hg19:g.101832493C>G	ENSP00000263468:p.Gln243Glu		Q4G0U6	Missense_Mutation	SNP	ENST00000263468.8	hg19	CCDS31658.1	.	.	.	.	.	.	.	.	.	.	C	10.77	1.444976	0.25987	.	.	ENSG00000110318	ENST00000263468;ENST00000537689	T;T	0.07908	3.15;3.15	5.51	5.51	0.81932	.	0.475599	0.20115	N	0.098938	T	0.12860	0.0312	M	0.70595	2.14	0.22684	N	0.998852	B	0.24823	0.112	B	0.26094	0.066	T	0.07597	-1.0764	10	0.48119	T	0.1	0.0806	11.3463	0.49563	0.1257:0.6801:0.1941:0.0	.	243	Q9P2H0	K1377_HUMAN	E	243;44	ENSP00000263468:Q243E;ENSP00000443184:Q44E	ENSP00000263468:Q243E	Q	+	1	0	KIAA1377	101337703	0.999000	0.42202	0.995000	0.50966	0.907000	0.53573	1.559000	0.36320	2.595000	0.87683	0.561000	0.74099	CAG		0.313	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394140.1	NM_020802		G	101832493	C	G	101832493	3	3	676	1	0	0	0	0	1	0	0	0	8229	827	29	4	749	4	KIAA1377	11	101832493	Missense_Mutation	SNP	C	TCGA-HE-A5NK-01A-11D-A26P-10	6120054	101832493	33174023	49	37266											
CACNA1C	775	hgsc.bcm.edu	37	12	2763057	2763057	+	Silent	SNP	C	C	T			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr12:2763057C>T	ENST00000347598.4	+	35	4275	c.4275C>T	c.(4273-4275)atC>atT	p.I1425I	CACNA1C_ENST00000335762.5_Silent_p.I1402I|CACNA1C_ENST00000399617.1_Silent_p.I1377I|CACNA1C_ENST00000399649.1_Silent_p.I1364I|CACNA1C_ENST00000399655.1_Silent_p.I1377I|CACNA1C_ENST00000399606.1_Silent_p.I1397I|CACNA1C_ENST00000327702.7_Silent_p.I1377I|CACNA1C_ENST00000399621.1_Silent_p.I1377I|CACNA1C_ENST00000399591.1_Silent_p.I1366I|CACNA1C_ENST00000399601.1_Silent_p.I1377I|CACNA1C_ENST00000399634.1_Silent_p.I1377I|CACNA1C_ENST00000399644.1_Silent_p.I1377I|CACNA1C_ENST00000399629.1_Silent_p.I1394I|CACNA1C_ENST00000402845.3_Silent_p.I1377I|CACNA1C_ENST00000399641.1_Silent_p.I1377I|CACNA1C_ENST00000399637.1_Silent_p.I1377I|CACNA1C_ENST00000344100.3_Silent_p.I1399I|CACNA1C_ENST00000399595.1_Silent_p.I1366I|CACNA1C_ENST00000399603.1_Silent_p.I1377I|CACNA1C_ENST00000399638.1_Silent_p.I1405I|CACNA1C_ENST00000399597.1_Silent_p.I1377I|CACNA1C_ENST00000406454.3_Silent_p.I1377I	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1425					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	ACGCGGTGATCGGGATGCAGG	0.627																																																0													75	78	77					12																	2763057		2028	4203	6231	SO:0001819	synonymous_variant	775			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.4275C>T	chr12.hg19:g.2763057C>T			B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	ENST00000347598.4	hg19	CCDS44788.1																																																																																				0.627	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		T	2763057	C	T	2763057	2	4	676	1	0	0	0	0	0	0	0	1	2542	874	31	1		1	CACNA1C	12	2763057	Silent	SNP	C	TCGA-HE-A5NK-01A-11D-A26P-10		2763057	131088838	50	37267											
A2M	2	hgsc.bcm.edu	37	12	9242617	9242617	+	Missense_Mutation	SNP	T	T	A			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr12:9242617T>A	ENST00000318602.7	-	21	2906	c.2599A>T	c.(2599-2601)Aat>Tat	p.N867Y		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	867					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)	AAATTCACATTTCCTGAAAAA	0.438																																																0													119	118	118					12																	9242617		1893	4112	6005	SO:0001583	missense	2			BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.2599A>T	chr12.hg19:g.9242617T>A	ENSP00000323929:p.Asn867Tyr		Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	ENST00000318602.7	hg19	CCDS44827.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.24|11.24	1.580426|1.580426	0.28180|0.28180	.|.	.|.	ENSG00000175899|ENSG00000175899	ENST00000543436|ENST00000318602;ENST00000540099	.|T	.|0.17054	.|2.3	5.68|5.68	3.33|3.33	0.38152|0.38152	.|.	.|0.737822	.|0.13068	.|N	.|0.416350	T|T	0.19327|0.19327	0.0464|0.0464	M|M	0.80028|0.80028	2.48|2.48	0.09310|0.09310	N|N	1|1	.|B	.|0.17465	.|0.022	.|B	.|0.15870	.|0.014	T|T	0.41998|0.41998	-0.9477|-0.9477	5|10	.|0.66056	.|D	.|0.02	.|.	0.9957|0.9957	0.01466|0.01466	0.1621:0.1524:0.1695:0.516|0.1621:0.1524:0.1695:0.516	.|.	.|867	.|P01023	.|A2MG_HUMAN	D|Y	114|867;882	.|ENSP00000323929:N867Y	.|ENSP00000323929:N867Y	E|N	-|-	3|1	2|0	A2M|A2M	9133884|9133884	0.000000|0.000000	0.05858|0.05858	0.405000|0.405000	0.26409|0.26409	0.850000|0.850000	0.48378|0.48378	0.257000|0.257000	0.18369|0.18369	0.955000|0.955000	0.37878|0.37878	-0.336000|-0.336000	0.08194|0.08194	GAA|AAT		0.438	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		A	9242617	T	A	9242617	3	1	676	1	0	0	0	0	1	0	0	0	4	1841	64	5	1889	5	A2M	12	9242617	Missense_Mutation	SNP	T	TCGA-HE-A5NK-01A-11D-A26P-10	6479560	9242617	124609278	51	37268											
PTPRB	5787	hgsc.bcm.edu	37	12	71002988	71002988	+	Silent	SNP	G	G	A			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr12:71002988G>A	ENST00000261266.5	-	2	215	c.186C>T	c.(184-186)acC>acT	p.T62T	PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000538708.1_Silent_p.T62T|PTPRB_ENST00000551525.1_Silent_p.T279T|PTPRB_ENST00000451516.2_Silent_p.T62T|PTPRB_ENST00000334414.6_Silent_p.T280T|PTPRB_ENST00000550857.1_Silent_p.T62T|PTPRB_ENST00000550358.1_Silent_p.T280T	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	62	Fibronectin type-III 1. {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)			CGGCCCCCAGGGTGTCACTGC	0.498																																																0													86	90	88					12																	71002988		1923	4116	6039	SO:0001819	synonymous_variant	5787			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.186C>T	chr12.hg19:g.71002988G>A			B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Silent	SNP	ENST00000261266.5	hg19	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	G	0.050	-1.252789	0.01469	.	.	ENSG00000127329	ENST00000547715	.	.	.	4.75	-4.0	0.04057	.	.	.	.	.	T	0.17023	0.0409	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.21930	-1.0231	4	.	.	.	.	0.6526	0.00829	0.3902:0.1252:0.1784:0.3062	.	.	.	.	S	54	.	.	P	-	1	0	PTPRB	69289255	0.707000	0.27866	0.000000	0.03702	0.051000	0.14879	-0.453000	0.06778	-1.290000	0.02372	-0.194000	0.12790	CCT		0.498	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			A	71002988	G	A	71002988	2	1	676	1	0	0	0	0	0	0	0	1	12802	1219	43	2		2	PTPRB	12	71002988	Silent	SNP	G	TCGA-HE-A5NK-01A-11D-A26P-10	61760371	71002988	62848907	52	37269											
PGAM5	192111	hgsc.bcm.edu	37	12	133294130	133294130	+	Missense_Mutation	SNP	T	T	C			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr12:133294130T>C	ENST00000498926.2	+	3	534	c.476T>C	c.(475-477)aTc>aCc	p.I159T	PGAM5_ENST00000543955.1_Missense_Mutation_p.I10T|PGAM5_ENST00000454808.2_Missense_Mutation_p.I10T|PXMP2_ENST00000545677.1_3'UTR|PGAM5_ENST00000317555.2_Missense_Mutation_p.I159T	NM_001170543.1|NM_001170544.1	NP_001164014.1|NP_001164015.1	Q96HS1	PGAM5_HUMAN	phosphoglycerate mutase family member 5	159					dephosphorylation (GO:0016311)|necroptotic process (GO:0070266)|positive regulation of GTPase activity (GO:0043547)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|protein complex binding (GO:0032403)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.89e-08)|Epithelial(86;1.14e-07)|all cancers(50;3.57e-06)		ACCACCGATATCATCAGCCGG	0.632																																																0													49	55	53					12																	133294130		2203	4298	6501	SO:0001583	missense	192111			BC008196	CCDS9280.1, CCDS53845.1	12q24.33	2011-07-28			ENSG00000247077	ENSG00000247077			28763	protein-coding gene	gene with protein product		614939				11283018	Standard	NM_001170543		Approved	MGC5352, BXLBv68	uc009zyv.3	Q96HS1	OTTHUMG00000168021	ENST00000498926.2:c.476T>C	chr12.hg19:g.133294130T>C	ENSP00000438465:p.Ile159Thr		A9LN06|C9IZY7|Q96JB0	Missense_Mutation	SNP	ENST00000498926.2	hg19	CCDS53845.1	.	.	.	.	.	.	.	.	.	.	T	19.44	3.827390	0.71143	.	.	ENSG00000247077	ENST00000317555;ENST00000498926;ENST00000543955;ENST00000454808	T;T	0.73681	1.36;-0.77	5.6	5.6	0.85130	Histidine phosphatase superfamily, clade-1 (2);	0.000000	0.85682	D	0.000000	D	0.86577	0.5966	M	0.79693	2.465	0.80722	D	1	D;D	0.76494	0.999;0.988	D;D	0.81914	0.995;0.962	D	0.88249	0.2915	10	0.66056	D	0.02	-3.8102	15.8035	0.78473	0.0:0.0:0.0:1.0	.	159;159	Q96HS1;Q96HS1-2	PGAM5_HUMAN;.	T	159;159;10;10	ENSP00000321503:I159T;ENSP00000438465:I159T	ENSP00000321503:I159T	I	+	2	0	PGAM5	131804203	1.000000	0.71417	1.000000	0.80357	0.267000	0.26476	7.459000	0.80802	2.130000	0.65690	0.482000	0.46254	ATC		0.632	PGAM5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397562.1	NM_138575		C	133294130	T	C	133294130	3	2	676	1	0	0	0	0	1	0	0	0	11778	1435	50	3	486	3	PGAM5	12	133294130	Missense_Mutation	SNP	T	TCGA-HE-A5NK-01A-11D-A26P-10	62291142	133294130	557765	53	37270											
MTRF1	9617	hgsc.bcm.edu	37	13	41791352	41791352	+	Missense_Mutation	SNP	C	C	T			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr13:41791352C>T	ENST00000379480.4	-	10	1337	c.1237G>A	c.(1237-1239)Ggt>Agt	p.G413S	MTRF1_ENST00000379477.1_Missense_Mutation_p.G413S|MTRF1_ENST00000430347.2_Silent_p.V461V	NM_004294.2	NP_004285.2	O75570	RF1M_HUMAN	mitochondrial translational release factor 1	413					regulation of translational termination (GO:0006449)	mitochondrion (GO:0005739)	translation release factor activity (GO:0003747)|translation release factor activity, codon specific (GO:0016149)			breast(1)|endometrium(4)|large_intestine(3)|lung(6)	14		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)		CCCTTCCCACCACATAAAAAT	0.348																																																0													56	61	59					13																	41791352		2203	4300	6503	SO:0001583	missense	9617			AF072934	CCDS9378.1	13q14.1-q14.3	2008-07-18			ENSG00000120662	ENSG00000120662			7469	protein-coding gene	gene with protein product	"mitochontrial peptide chain release factor 1"	604601				9838146, 10773675	Standard	NM_004294		Approved	RF1, MTTRF1, MGC47721	uc001uxy.3	O75570	OTTHUMG00000016790	ENST00000379480.4:c.1237G>A	chr13.hg19:g.41791352C>T	ENSP00000368793:p.Gly413Ser		B4DG01|Q5T6Y5|Q8IUQ6	Missense_Mutation	SNP	ENST00000379480.4	hg19	CCDS9378.1	.	.	.	.	.	.	.	.	.	.	C	17.91	3.505562	0.64410	.	.	ENSG00000120662	ENST00000379480;ENST00000379477	T;T	0.58210	0.35;0.35	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.72334	0.3447	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75068	-0.3448	10	0.87932	D	0	-9.2822	16.8351	0.85955	0.0:1.0:0.0:0.0	.	413	O75570	RF1M_HUMAN	S	413	ENSP00000368793:G413S;ENSP00000368790:G413S	ENSP00000368790:G413S	G	-	1	0	MTRF1	40689352	1.000000	0.71417	1.000000	0.80357	0.228000	0.25075	4.053000	0.57427	2.583000	0.87209	0.655000	0.94253	GGT		0.348	MTRF1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044666.3	NM_004294		T	41791352	C	T	41791352	3	4	676	1	0	0	0	0	1	0	0	0	9961	594	21	2	104	2	MTRF1	13	41791352	Missense_Mutation	SNP	C	TCGA-HE-A5NK-01A-11D-A26P-10		41791352	73378526	54	37271											
BCL2L2	599	hgsc.bcm.edu	37	14	23776985	23776985	+	Silent	SNP	C	C	A			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr14:23776985C>A	ENST00000250405.5	+	3	238	c.9C>A	c.(7-9)acC>acA	p.T3T	BCL2L2-PABPN1_ENST00000557008.1_Silent_p.T3T|BCL2L2-PABPN1_ENST00000553781.1_Silent_p.T3T	NM_001199839.1|NM_004050.4	NP_001186768.1|NP_004041	Q92843	B2CL2_HUMAN	BCL2-like 2	3					extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|Sertoli cell proliferation (GO:0060011)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|lung(4)|prostate(1)	6	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00654)		GGATGGCGACCCCAGCCTCGG	0.562																																																0													53	63	60					14																	23776985		2203	4298	6501	SO:0001819	synonymous_variant	100529063			D87461	CCDS9591.1	14q11.2-q12	2014-03-07			ENSG00000129473	ENSG00000129473		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	995	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 51"	601931				8761287	Standard	NM_001199839		Approved	KIAA0271, BCL-W, PPP1R51		Q92843	OTTHUMG00000028738	ENST00000250405.5:c.9C>A	chr14.hg19:g.23776985C>A			A8K0F4|Q2M3U0|Q5U0H4	Silent	SNP	ENST00000250405.5	hg19	CCDS9591.1																																																																																				0.562	BCL2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071763.3	NM_004050		A	23776985	C	A	23776985	2	1	676	1	0	0	0	0	0	0	0	1	1374	610	22	4		4	BCL2L2	14	23776985	Silent	SNP	C	TCGA-HE-A5NK-01A-11D-A26P-10		23776985	83572555	55	37272											
SAV1	60485	hgsc.bcm.edu	37	14	51132105	51132106	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr14:51132105_51132106delCT	ENST00000324679.4	-	2	689_690	c.326_327delAG	c.(325-327)gagfs	p.E109fs	RP11-248J18.2_ENST00000602954.1_RNA	NM_021818.3	NP_068590.1	Q9H4B6	SAV1_HUMAN	salvador family WW domain containing protein 1	109					hair follicle development (GO:0001942)|hippo signaling (GO:0035329)|intestinal epithelial cell differentiation (GO:0060575)|keratinocyte differentiation (GO:0030216)|lung epithelial cell differentiation (GO:0060487)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of epithelial cell proliferation (GO:0050680)|positive regulation of apoptotic process (GO:0043065)|regulation of stem cell maintenance (GO:2000036)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)				breast(1)|kidney(2)|lung(2)|prostate(1)	6	all_epithelial(31;0.000611)|Breast(41;0.0333)					AAGAACCATACTCTCTAGGGAC	0.376																																																0																																										SO:0001589	frameshift_variant	60485			AK023071	CCDS9701.1	14q13-q23	2014-04-14	2014-04-14		ENSG00000151748	ENSG00000151748			17795	protein-coding gene	gene with protein product	"WW domain-containing adaptor 45"	607203	"salvador homolog 1 (Drosophila)"			12202036, 11027580	Standard	NM_021818		Approved	WW45, WWP4, salvador	uc001wyh.2	Q9H4B6	OTTHUMG00000140293	ENST00000324679.4:c.326_327delAG	chr14.hg19:g.51132109_51132110delCT	ENSP00000324729:p.Glu109fs		A8K4B8|D3DSB6|Q6IA58|Q9H949|Q9HAK9	Frame_Shift_Del	DEL	ENST00000324679.4	hg19	CCDS9701.1																																																																																				0.376	SAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276879.1			-	51132106	CT	-	51132105	7	5	676	1	0	1	0	1	0	0	0	0	13862	564	20	0	840	0	SAV1	14	51132105	Frame_Shift_Del	DEL	CT	TCGA-HE-A5NK-01A-11D-A26P-10	27355120	51132105	56217435	56	37273											
MAP1A	4130	hgsc.bcm.edu	37	15	43817788	43817788	+	Missense_Mutation	SNP	A	A	G			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr15:43817788A>G	ENST00000300231.5	+	4	4567	c.4117A>G	c.(4117-4119)Act>Gct	p.T1373A	MAP1A_ENST00000399453.1_Missense_Mutation_p.T1373A|MAP1A_ENST00000382031.1_Missense_Mutation_p.T1611A			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1373					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)	GAAAGACAAAACTCTGGAGCA	0.443																																																0													99	96	97					15																	43817788		1906	4125	6031	SO:0001583	missense	4130			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.4117A>G	chr15.hg19:g.43817788A>G	ENSP00000300231:p.Thr1373Ala		O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	hg19	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	A	9.136	1.012745	0.19277	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.02280	4.36;4.36;4.36	4.47	1.97	0.26223	.	.	.	.	.	T	0.02807	0.0084	M	0.63428	1.95	0.09310	N	0.999998	B	0.33549	0.417	B	0.30495	0.116	T	0.41431	-0.9509	9	0.27785	T	0.31	0.3065	5.6758	0.17747	0.7318:0.171:0.0972:0.0	.	1373	P78559	MAP1A_HUMAN	A	1611;1373;1373	ENSP00000371462:T1611A;ENSP00000382380:T1373A;ENSP00000300231:T1373A	ENSP00000300231:T1373A	T	+	1	0	MAP1A	41605080	0.004000	0.15560	0.999000	0.59377	0.716000	0.41182	1.917000	0.39996	0.866000	0.35629	0.460000	0.39030	ACT		0.443	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		G	43817788	A	G	43817788	3	3	676	1	0	0	0	0	1	0	0	0	9229	43	2	3	4119	3	MAP1A	15	43817788	Missense_Mutation	SNP	A	TCGA-HE-A5NK-01A-11D-A26P-10		43817788	58713604	57	37274											
NUBP2	3483	hgsc.bcm.edu	37	16	1837738	1837738	+	IGR	SNP	A	A	G			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr16:1837738A>G	ENST00000215539.3	-	0	2116				NUBP2_ENST00000568706.1_5'UTR|NUBP2_ENST00000262302.9_Missense_Mutation_p.D132G|NUBP2_ENST00000543305.1_5'UTR|NUBP2_ENST00000565134.1_Missense_Mutation_p.D132G|NUBP2_ENST00000565987.1_Missense_Mutation_p.D72G			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						CTGGTGGTGGACACGCCCCCG	0.682																																																0													66	67	66					16																	1837738		2199	4300	6499	SO:0001628	intergenic_variant	10101			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		chr16.hg19:g.1837738A>G			B4DZY8|E9PGU3	Missense_Mutation	SNP	ENST00000215539.3	hg19	CCDS10446.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.307453	0.81247	.	.	ENSG00000095906	ENST00000262302	D	0.81821	-1.54	4.92	4.92	0.64577	Mrp, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.94555	0.8246	H	0.99867	4.865	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96490	0.9363	10	0.87932	D	0	-9.7752	13.4012	0.60883	1.0:0.0:0.0:0.0	.	132	Q9Y5Y2	NUBP2_HUMAN	G	132	ENSP00000262302:D132G	ENSP00000262302:D132G	D	+	2	0	NUBP2	1777739	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	7.008000	0.76341	1.854000	0.53819	0.459000	0.35465	GAC		0.682	IGFALS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250509.2			G	1837738	A	G	1837738	1	3	676	0	1	0	0	0	0	0	0	0	10718	275	10	3		3	NUBP2	16	1837738	IGR	SNP	A	TCGA-HE-A5NK-01A-11D-A26P-10		1837738	88517015	58	37275											
CP110	9738	hgsc.bcm.edu	37	16	19548820	19548820	+	Missense_Mutation	SNP	A	A	T			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr16:19548820A>T	ENST00000381396.5	+	4	2076	c.1829A>T	c.(1828-1830)gAa>gTa	p.E610V	CCP110_ENST00000396212.2_Missense_Mutation_p.E610V|CCP110_ENST00000396208.2_Missense_Mutation_p.E610V	NM_001199022.1	NP_001185951	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	610					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						GGAATAACTGAACAAGAAAGG	0.348																																																0													67	72	70					16																	19548820		2197	4300	6497	SO:0001583	missense	9738			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.1829A>T	chr16.hg19:g.19548820A>T	ENSP00000370803:p.Glu610Val		B7WP23|O43335|Q68DV9|Q8NE13	Missense_Mutation	SNP	ENST00000381396.5	hg19	CCDS55992.1	.	.	.	.	.	.	.	.	.	.	A	14.41	2.527464	0.44969	.	.	ENSG00000103540	ENST00000396212;ENST00000381396;ENST00000396208	T;T;T	0.16897	2.31;2.31;2.31	5.17	5.17	0.71159	.	0.139138	0.46145	D	0.000310	T	0.16557	0.0398	L	0.58101	1.795	0.30579	N	0.762718	P;P	0.45715	0.865;0.865	B;B	0.42555	0.391;0.391	T	0.30090	-0.9990	10	0.48119	T	0.1	-1.1381	3.1962	0.06634	0.6412:0.1436:0.0771:0.1382	.	610;610	O43303;O43303-2	CP110_HUMAN;.	V	610	ENSP00000379515:E610V;ENSP00000370803:E610V;ENSP00000379511:E610V	ENSP00000370803:E610V	E	+	2	0	CCP110	19456321	1.000000	0.71417	0.981000	0.43875	0.972000	0.66771	2.685000	0.46959	1.933000	0.56026	0.460000	0.39030	GAA		0.348	CCP110-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254284.2	NM_014711		T	19548820	A	T	19548820	3	4	676	1	0	0	0	0	1	0	0	0	3790	246	9	5	1839	5	CP110	16	19548820	Missense_Mutation	SNP	A	TCGA-HE-A5NK-01A-11D-A26P-10	17711082	19548820	70805933	59	37276	278	2									
CP110	9738	hgsc.bcm.edu	37	16	19548822	19548822	+	Missense_Mutation	SNP	C	C	A			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr16:19548822C>A	ENST00000381396.5	+	4	2078	c.1831C>A	c.(1831-1833)Caa>Aaa	p.Q611K	CCP110_ENST00000396212.2_Missense_Mutation_p.Q611K|CCP110_ENST00000396208.2_Missense_Mutation_p.Q611K	NM_001199022.1	NP_001185951	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	611					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						AATAACTGAACAAGAAAGGCA	0.348																																																0													66	71	69					16																	19548822		2197	4300	6497	SO:0001583	missense	9738			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.1831C>A	chr16.hg19:g.19548822C>A	ENSP00000370803:p.Gln611Lys		B7WP23|O43335|Q68DV9|Q8NE13	Missense_Mutation	SNP	ENST00000381396.5	hg19	CCDS55992.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.694577	0.48202	.	.	ENSG00000103540	ENST00000396212;ENST00000381396;ENST00000396208	T;T;T	0.19105	2.17;2.17;2.17	5.17	5.17	0.71159	.	0.260422	0.33127	N	0.005246	T	0.25005	0.0607	L	0.58101	1.795	0.35963	D	0.834752	P;P	0.41978	0.767;0.767	B;B	0.41510	0.359;0.359	T	0.33904	-0.9850	10	0.72032	D	0.01	-0.143	12.0805	0.53667	0.0:0.9211:0.0:0.0789	.	611;611	O43303;O43303-2	CP110_HUMAN;.	K	611	ENSP00000379515:Q611K;ENSP00000370803:Q611K;ENSP00000379511:Q611K	ENSP00000370803:Q611K	Q	+	1	0	CCP110	19456323	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	3.793000	0.55484	2.385000	0.81259	0.563000	0.77884	CAA		0.348	CCP110-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254284.2	NM_014711		A	19548822	C	A	19548822	3	1	676	1	0	0	0	0	1	0	0	0	3790	479	17	4	1841	4	CP110	16	19548822	Missense_Mutation	SNP	C	TCGA-HE-A5NK-01A-11D-A26P-10	2	19548822	70805931	60	37277	278	2									
PRR14	78994	hgsc.bcm.edu	37	16	30666137	30666137	+	Silent	SNP	G	G	A			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr16:30666137G>A	ENST00000542965.2	+	7	1302	c.846G>A	c.(844-846)ctG>ctA	p.L282L	PRR14_ENST00000300835.4_Silent_p.L282L			Q9BWN1	PRR14_HUMAN	proline rich 14	282	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			CAATGAAGCTGGAGTTGAAGA	0.637																																																0													19	23	21					16																	30666137		2192	4295	6487	SO:0001819	synonymous_variant	78994			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.846G>A	chr16.hg19:g.30666137G>A			Q8WTX2	Silent	SNP	ENST00000542965.2	hg19	CCDS10687.1																																																																																				0.637	PRR14-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434433.1	NM_024031		A	30666137	G	A	30666137	2	1	676	1	0	0	0	0	0	0	0	1	12591	1335	47	2		2	PRR14	16	30666137	Silent	SNP	G	TCGA-HE-A5NK-01A-11D-A26P-10	11117315	30666137	59688616	61	37278											
FBXL19	54620	hgsc.bcm.edu	37	16	30958111	30958111	+	Missense_Mutation	SNP	A	A	G			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr16:30958111A>G	ENST00000380310.2	+	10	1906	c.1748A>G	c.(1747-1749)gAg>gGg	p.E583G	AC135048.13_ENST00000566056.1_RNA|ORAI3_ENST00000566237.1_5'Flank|FBXL19_ENST00000562319.1_Missense_Mutation_p.E563G|ORAI3_ENST00000318663.4_5'Flank|FBXL19_ENST00000565690.1_Missense_Mutation_p.E447G|ORAI3_ENST00000562699.1_5'Flank|FBXL19_ENST00000471231.2_Missense_Mutation_p.E271G|FBXL19_ENST00000338343.4_Missense_Mutation_p.E563G	NM_001099784.2	NP_001093254.2	Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19	583					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						GCAGGTTTGGAGCTGACAGAT	0.667																																																0													33	40	38					16																	30958111		2140	4240	6380	SO:0001583	missense	54620			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.1748A>G	chr16.hg19:g.30958111A>G	ENSP00000369666:p.Glu583Gly		A8MT10|Q8N789|Q9NT14	Missense_Mutation	SNP	ENST00000380310.2	hg19	CCDS45465.1	.	.	.	.	.	.	.	.	.	.	A	14.02	2.411339	0.42817	.	.	ENSG00000099364	ENST00000338343;ENST00000380310	T;T	0.35421	1.31;1.31	4.76	4.76	0.60689	.	0.135420	0.48286	D	0.000188	T	0.26882	0.0658	N	0.25031	0.7	0.48762	D	0.999706	B;B	0.25390	0.125;0.005	B;B	0.24006	0.05;0.005	T	0.08827	-1.0703	10	0.62326	D	0.03	-16.01	13.2832	0.60228	1.0:0.0:0.0:0.0	.	583;540	Q6PCT2;Q6PCT2-2	FXL19_HUMAN;.	G	563;583	ENSP00000339712:E563G;ENSP00000369666:E583G	ENSP00000339712:E563G	E	+	2	0	FBXL19	30865612	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.381000	0.79718	1.789000	0.52484	0.459000	0.35465	GAG		0.667	FBXL19-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_019085		G	30958111	A	G	30958111	3	3	676	1	0	0	0	0	1	0	0	0	5717	304	11	3	1786	3	FBXL19	16	30958111	Missense_Mutation	SNP	A	TCGA-HE-A5NK-01A-11D-A26P-10	291974	30958111	59396642	62	37279											
ITGAX	3687	hgsc.bcm.edu	37	16	31374006	31374006	+	Missense_Mutation	SNP	G	G	C	rs554674355		TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr16:31374006G>C	ENST00000268296.4	+	12	1412	c.1291G>C	c.(1291-1293)Ggg>Cgg	p.G431R	ITGAX_ENST00000562522.1_Missense_Mutation_p.G431R	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	431					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						CCAGCACACCGGGAAGGCTGT	0.647																																																0													34	33	33					16																	31374006		2197	4300	6497	SO:0001583	missense	3687			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.1291G>C	chr16.hg19:g.31374006G>C	ENSP00000268296:p.Gly431Arg		Q8IVA6	Missense_Mutation	SNP	ENST00000268296.4	hg19	CCDS10711.1	.	.	.	.	.	.	.	.	.	.	g	18.79	3.698354	0.68386	.	.	ENSG00000140678	ENST00000268296	T	0.54479	0.57	3.76	2.69	0.31865	.	.	.	.	.	T	0.80979	0.4728	H	0.98559	4.265	0.33798	D	0.62635	D	0.89917	1.0	D	0.87578	0.998	D	0.87513	0.2441	9	0.87932	D	0	.	10.1899	0.43019	0.0:0.2038:0.7962:0.0	.	431	P20702	ITAX_HUMAN	R	431	ENSP00000268296:G431R	ENSP00000268296:G431R	G	+	1	0	ITGAX	31281507	0.999000	0.42202	0.997000	0.53966	0.899000	0.52679	3.647000	0.54403	1.829000	0.53265	0.448000	0.29417	GGG		0.647	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		C	31374006	G	C	31374006	3	2	676	1	0	0	0	0	1	0	0	0	7891	1116	39	4	1337	4	ITGAX	16	31374006	Missense_Mutation	SNP	G	TCGA-HE-A5NK-01A-11D-A26P-10	415895	31374006	58980747	63	37280											
GHDC	84514	hgsc.bcm.edu	37	17	40344519	40344519	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr17:40344519delA	ENST00000301671.8	-	4	1070	c.629delT	c.(628-630)ttcfs	p.F210fs	GHDC_ENST00000414034.3_Frame_Shift_Del_p.F210fs|GHDC_ENST00000428494.2_Frame_Shift_Del_p.F171fs|GHDC_ENST00000436923.2_Frame_Shift_Del_p.F210fs|GHDC_ENST00000593209.1_Frame_Shift_Del_p.F210fs|GHDC_ENST00000590520.1_5'Flank|GHDC_ENST00000587427.1_Frame_Shift_Del_p.F210fs			Q8N2G8	GHDC_HUMAN	GH3 domain containing	210						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		CAGGCCCAAGAAAACATCCAG	0.652																																																0													82	94	89					17																	40344519		2202	4298	6500	SO:0001589	frameshift_variant	84514			AF316997, BC011056	CCDS11422.1, CCDS45682.1	17q21.2	2006-08-02				ENSG00000167925			24438	protein-coding gene	gene with protein product		608587				11161808, 11735219	Standard	NR_024573		Approved	LGP1	uc002hzf.4	Q8N2G8		ENST00000301671.8:c.629delT	chr17.hg19:g.40344519delA	ENSP00000301671:p.Phe210fs		B4DQS4|E9PDB5|Q9BXM6	Frame_Shift_Del	DEL	ENST00000301671.8	hg19	CCDS11422.1																																																																																				0.652	GHDC-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449794.1	NM_032484		-	40344519	A	-	40344519	7	5	676	1	0	1	0	1	0	0	0	0	6371	246	9	0	1076	0	GHDC	17	40344519	Frame_Shift_Del	DEL	A	TCGA-HE-A5NK-01A-11D-A26P-10		40344519	40850691	64	37281											
MMD	23531	hgsc.bcm.edu	37	17	53485137	53485138	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr17:53485137_53485138insAG	ENST00000262065.3	-	4	609_610	c.313_314insCT	c.(313-315)tatfs	p.Y105fs		NM_012329.2	NP_036461.2	Q15546	PAQRB_HUMAN	monocyte to macrophage differentiation-associated	105					cytolysis (GO:0019835)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						AATGAAGAAATAGATAACCATT	0.386																																																0																																										SO:0001589	frameshift_variant	23531			X85750	CCDS11586.1	17q	2008-05-02				ENSG00000108960			7153	protein-coding gene	gene with protein product		604467				7503749, 16044242	Standard	NM_012329		Approved	MMA, PAQR11	uc002iui.3	Q15546		ENST00000262065.3:c.312_313dupCT	chr17.hg19:g.53485138_53485139dupAG	ENSP00000262065:p.Tyr105fs		B2R6X9|D3DTY6|Q8TAN7	Frame_Shift_Ins	INS	ENST00000262065.3	hg19	CCDS11586.1																																																																																				0.386	MMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439214.1			AG	53485138	-	AG	53485137	7	5	676	1	0	1	1	0	0	0	0	0	9645	1406	49	0	418	0	MMD	17	53485137	Frame_Shift_Ins	INS	-	TCGA-HE-A5NK-01A-11D-A26P-10	13140618	53485137	27710073	65	37282											
PPM1E	22843	hgsc.bcm.edu	37	17	56833454	56833454	+	Silent	SNP	G	G	A	rs77856248		TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr17:56833454G>A	ENST00000308249.2	+	1	225	c.96G>A	c.(94-96)gaG>gaA	p.E32E		NM_014906.4	NP_055721.3	Q96MI6	PPM1M_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	0	PP2C-like.				protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|manganese ion binding (GO:0030145)			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			Gcgagccggagccggaacccg	0.667																																																0													14	20	18					17																	56833454		2185	4284	6469	SO:0001819	synonymous_variant	22843			AB028995	CCDS11613.1	17q24.2	2012-04-17	2010-03-05		ENSG00000175175	ENSG00000175175		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	19322	protein-coding gene	gene with protein product	"partner of PIX 1", "nuclear calmodulin-dependent protein kinase phosphatase"		"protein phosphatase 1E (PP2C domain containing)"			11864573, 10470851	Standard	NR_048561		Approved	POPX1, KIAA1072, PP2CH, CaMKP-N	uc002iwx.4	Q8WY54		ENST00000308249.2:c.96G>A	chr17.hg19:g.56833454G>A			Q8N8J9|Q96DB8	Silent	SNP	ENST00000308249.2	hg19	CCDS11613.1																																																																																				0.667	PPM1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445458.1	NM_014906		A	56833454	G	A	56833454	2	1	676	1	0	0	0	0	0	0	0	1	12343	962	34	2		2	PPM1E	17	56833454	Silent	SNP	G	TCGA-HE-A5NK-01A-11D-A26P-10	3348317	56833454	24361756	66	37283	279	2	1	62		3	2	37	N	G	9.535435e-05
PPM1E	22843	hgsc.bcm.edu	37	17	56833457	56833457	+	Silent	SNP	G	G	C	rs3834568|rs201186780|rs74256772	byFrequency	TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr17:56833457G>C	ENST00000308249.2	+	1	228	c.99G>C	c.(97-99)ccG>ccC	p.P33P		NM_014906.4	NP_055721.3	Q96MI6	PPM1M_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	0	PP2C-like.				protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|manganese ion binding (GO:0030145)			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			agccggagccggaacccgaac	0.672																																																0													14	20	18					17																	56833457		2188	4284	6472	SO:0001819	synonymous_variant	22843			AB028995	CCDS11613.1	17q24.2	2012-04-17	2010-03-05		ENSG00000175175	ENSG00000175175		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	19322	protein-coding gene	gene with protein product	"partner of PIX 1", "nuclear calmodulin-dependent protein kinase phosphatase"		"protein phosphatase 1E (PP2C domain containing)"			11864573, 10470851	Standard	NR_048561		Approved	POPX1, KIAA1072, PP2CH, CaMKP-N	uc002iwx.4	Q8WY54		ENST00000308249.2:c.99G>C	chr17.hg19:g.56833457G>C			Q8N8J9|Q96DB8	Silent	SNP	ENST00000308249.2	hg19	CCDS11613.1																																																																																				0.672	PPM1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445458.1	NM_014906		C	56833457	G	C	56833457	2	2	676	1	0	0	0	0	0	0	0	1	12343	1103	39	4		4	PPM1E	17	56833457	Silent	SNP	G	TCGA-HE-A5NK-01A-11D-A26P-10	3	56833457	24361753	67	37284	279	2	1	62		3	2	37	N	G	9.535435e-05
PPM1E	22843	hgsc.bcm.edu	37	17	56833490	56833490	+	Silent	SNP	G	G	A	rs59676153		TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr17:56833490G>A	ENST00000308249.2	+	1	261	c.132G>A	c.(130-132)gaG>gaA	p.E44E		NM_014906.4	NP_055721.3	Q96MI6	PPM1M_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	0	PP2C-like.				protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|manganese ion binding (GO:0030145)			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			ccgaacccgagtccgagcccg	0.706																																																0																																										SO:0001819	synonymous_variant	22843			AB028995	CCDS11613.1	17q24.2	2012-04-17	2010-03-05		ENSG00000175175	ENSG00000175175		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	19322	protein-coding gene	gene with protein product	"partner of PIX 1", "nuclear calmodulin-dependent protein kinase phosphatase"		"protein phosphatase 1E (PP2C domain containing)"			11864573, 10470851	Standard	NR_048561		Approved	POPX1, KIAA1072, PP2CH, CaMKP-N	uc002iwx.4	Q8WY54		ENST00000308249.2:c.132G>A	chr17.hg19:g.56833490G>A			Q8N8J9|Q96DB8	Silent	SNP	ENST00000308249.2	hg19	CCDS11613.1																																																																																				0.706	PPM1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445458.1	NM_014906		A	56833490	G	A	56833490	2	1	676	1	0	0	0	0	0	0	0	1	12343	1020	36	2		2	PPM1E	17	56833490	Silent	SNP	G	TCGA-HE-A5NK-01A-11D-A26P-10	33	56833490	24361720	68	37285			1	62		3	2	37	N	G	9.535435e-05
RNF213	57674	hgsc.bcm.edu	37	17	78350139	78350141	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	GAT	GAT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr17:78350139_78350141delGAT	ENST00000582970.1	+	52	13367_13369	c.13224_13226delGAT	c.(13222-13227)aagatc>aac	p.4408_4409KI>N	RNF213_ENST00000508628.2_In_Frame_Del_p.4457_4458KI>N|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_In_Frame_Del_p.2481_2482KI>N	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4408					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GCGAATGCAAGATCCTTTCACCT	0.433																																																0																																										SO:0001651	inframe_deletion	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.13224_13226delGAT	chr17.hg19:g.78350139_78350141delGAT	ENSP00000464087:p.Lys4408_Ile4409delinsAsn		C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	In_Frame_Del	DEL	ENST00000582970.1	hg19	CCDS58606.1																																																																																				0.433	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		-	78350141	GAT	-	78350139	7	5	676	1	0	1	0	1	0	0	0	0	13483	933	33	0	13745	0	RNF213	17	78350139	In_Frame_Del	DEL	GAT	TCGA-HE-A5NK-01A-11D-A26P-10	21516649	78350139	2845071	69	37286											
ZNF236	7776	hgsc.bcm.edu	37	18	74680294	74680294	+	Nonstop_Mutation	SNP	G	G	T			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr18:74680294G>T	ENST00000253159.8	+	31	5735	c.5537G>T	c.(5536-5538)tGa>tTa	p.*1846L	ZNF236_ENST00000320610.9_Nonstop_Mutation_p.*1848L	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	0					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)		CACGTCTTCTGATGCGAGTTG	0.542																																																0													65	76	72					18																	74680294		1938	4135	6073	SO:0001578	stop_lost	7776			AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"Zinc fingers, C2H2-type"	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.5537G>T	chr18.hg19:g.74680294G>T	ENSP00000253159:p.*1846Leuext*8		B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	hg19	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	G	8.724	0.914980	0.17907	.	.	ENSG00000130856	ENST00000253159	.	.	.	4.91	4.04	0.47022	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5206	0.61566	0.0765:0.0:0.9235:0.0	.	.	.	.	L	1846	.	.	X	+	2	2	ZNF236	72809282	1.000000	0.71417	0.888000	0.34837	0.039000	0.13416	5.969000	0.70422	1.207000	0.43291	0.557000	0.71058	TGA		0.542	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			T	74680294	G	T	74680294	4	4	676	1	0	0	0	0	0	0	0	0	17794	1285	45	4	5659	4	ZNF236	18	74680294	Nonstop_Mutation	SNP	G	TCGA-HE-A5NK-01A-11D-A26P-10		74680294	3396954	70	37287											
DOT1L	84444	hgsc.bcm.edu	37	19	2210830	2210830	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr19:2210830C>T	ENST00000398665.3	+	14	1363	c.1327C>T	c.(1327-1329)Cag>Tag	p.Q443*	AC004490.1_ENST00000585593.1_RNA	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	443					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)		GACCGTGTCTCAGACGGCGGC	0.692																																																0													26	34	31					19																	2210830		1991	4142	6133	SO:0001587	stop_gained	84444			AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases"	24948	protein-coding gene	gene with protein product	"histone methyltransferase DOT1L"	607375	"DOT1-like, histone H3 methyltransferase (S. cerevisiae)"			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.1327C>T	chr19.hg19:g.2210830C>T	ENSP00000381657:p.Gln443*		O60379|Q96JL1	Nonsense_Mutation	SNP	ENST00000398665.3	hg19	CCDS42460.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.878112	0.91664	.	.	ENSG00000104885	ENST00000398665;ENST00000221482	.	.	.	4.84	4.84	0.62591	.	0.625695	0.16263	N	0.222122	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-7.1526	16.9353	0.86202	0.0:1.0:0.0:0.0	.	.	.	.	X	443	.	ENSP00000221482:Q443X	Q	+	1	0	DOT1L	2161830	0.963000	0.33076	0.020000	0.16555	0.076000	0.17211	4.755000	0.62198	2.222000	0.72286	0.561000	0.74099	CAG		0.692	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482		T	2210830	C	T	2210830	4	4	676	1	0	0	0	0	0	1	0	0	4711	827	29	2	1381	2	DOT1L	19	2210830	Nonsense_Mutation	SNP	C	TCGA-HE-A5NK-01A-11D-A26P-10		2210830	56918153	71	37288											
HAPLN4	404037	hgsc.bcm.edu	37	19	19371725	19371725	+	Silent	SNP	G	G	A			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr19:19371725G>A	ENST00000291481.7	-	3	444	c.381C>T	c.(379-381)tcC>tcT	p.S127S	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	127	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)	GGAGGACCAGGGAGGCATCCC	0.652																																																0													66	61	63					19																	19371725		2203	4300	6503	SO:0001819	synonymous_variant	404037			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.381C>T	chr19.hg19:g.19371725G>A			A5PKW5|Q96PW2	Silent	SNP	ENST00000291481.7	hg19	CCDS12398.1																																																																																				0.652	HAPLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460117.2	NM_023002		A	19371725	G	A	19371725	2	1	676	1	0	0	0	0	0	0	0	1	6959	1219	43	2		2	HAPLN4	19	19371725	Silent	SNP	G	TCGA-HE-A5NK-01A-11D-A26P-10	17160895	19371725	39757258	72	37289											
GRAMD1A	57655	hgsc.bcm.edu	37	19	35500151	35500151	+	Missense_Mutation	SNP	A	A	C			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr19:35500151A>C	ENST00000317991.5	+	2	329	c.137A>C	c.(136-138)gAt>gCt	p.D46A	GRAMD1A_ENST00000424536.2_Missense_Mutation_p.D46A|GRAMD1A_ENST00000411896.2_Missense_Mutation_p.D46A|GRAMD1A_ENST00000599564.1_Missense_Mutation_p.D133A|GRAMD1A_ENST00000504615.2_5'UTR|GRAMD1A_ENST00000598073.1_3'UTR	NM_020895.3	NP_065946.2	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	46						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)			AAGGGATCAGATAGCTCCTCA	0.647																																																0													38	45	43					19																	35500151		1939	4128	6067	SO:0001583	missense	57655			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.137A>C	chr19.hg19:g.35500151A>C	ENSP00000441032:p.Asp46Ala		A6NKY7|Q8NC77|Q9P1Z5	Missense_Mutation	SNP	ENST00000317991.5	hg19	CCDS42546.1	.	.	.	.	.	.	.	.	.	.	A	18.24	3.579681	0.65992	.	.	ENSG00000089351	ENST00000453966;ENST00000317991;ENST00000411896	T;T	0.25250	1.81;1.83	4.67	4.67	0.58626	.	0.081214	0.49916	D	0.000124	T	0.30665	0.0772	N	0.19112	0.55	0.80722	D	1	D;D;D;D	0.60160	0.987;0.978;0.987;0.987	P;P;P;P	0.61477	0.889;0.698;0.841;0.889	T	0.05402	-1.0887	10	0.45353	T	0.12	.	12.1081	0.53823	1.0:0.0:0.0:0.0	.	46;46;46;133	Q96CP6-3;Q96CP6;Q96CP6-2;F5GZ02	.;GRM1A_HUMAN;.;.	A	133;46;46	ENSP00000441032:D46A;ENSP00000439267:D46A	ENSP00000441032:D46A	D	+	2	0	GRAMD1A	40191991	1.000000	0.71417	0.569000	0.28460	0.688000	0.40055	4.842000	0.62831	1.965000	0.57142	0.459000	0.35465	GAT		0.647	GRAMD1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461557.1	NM_020895		C	35500151	A	C	35500151	3	2	676	1	0	0	0	0	1	0	0	0	6749	333	12	5	143	5	GRAMD1A	19	35500151	Missense_Mutation	SNP	A	TCGA-HE-A5NK-01A-11D-A26P-10	16128426	35500151	23628832	73	37290											
ZNF749	388567	hgsc.bcm.edu	37	19	57956504	57956504	+	Missense_Mutation	SNP	C	C	T			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr19:57956504C>T	ENST00000334181.4	+	3	2238	c.1988C>T	c.(1987-1989)aCt>aTt	p.T663I	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	663					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)		AGAGTTCATACTGGAGAAAAG	0.383																																																0													42	44	43					19																	57956504		2203	4300	6503	SO:0001583	missense	388567			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.1988C>T	chr19.hg19:g.57956504C>T	ENSP00000333980:p.Thr663Ile			Missense_Mutation	SNP	ENST00000334181.4	hg19	CCDS33132.2	.	.	.	.	.	.	.	.	.	.	C	11.60	1.686234	0.29962	.	.	ENSG00000186230	ENST00000334181	T	0.25749	1.78	2.05	-3.04	0.05412	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17746	0.0426	L	0.46819	1.47	0.22835	N	0.998678	P	0.35959	0.53	B	0.34180	0.177	T	0.15809	-1.0424	9	0.87932	D	0	.	3.6737	0.08284	0.1878:0.558:0.0:0.2541	.	663	O43361	ZN749_HUMAN	I	663	ENSP00000333980:T663I	ENSP00000333980:T663I	T	+	2	0	ZNF749	62648316	0.000000	0.05858	0.000000	0.03702	0.188000	0.23474	-0.145000	0.10265	-0.817000	0.04335	0.313000	0.20887	ACT		0.383	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	NM_001023561		T	57956504	C	T	57956504	3	4	676	1	0	0	0	0	1	0	0	0	18136	565	20	2	1998	2	ZNF749	19	57956504	Missense_Mutation	SNP	C	TCGA-HE-A5NK-01A-11D-A26P-10	22456353	57956504	1172479	74	37291											
ZNF418	147686	hgsc.bcm.edu	37	19	58438722	58438722	+	Missense_Mutation	SNP	T	T	A			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr19:58438722T>A	ENST00000396147.1	-	4	1118	c.827A>T	c.(826-828)cAt>cTt	p.H276L	ZNF418_ENST00000599086.1_5'Flank|ZNF418_ENST00000599852.1_Missense_Mutation_p.H191L|ZNF418_ENST00000595830.1_Missense_Mutation_p.H276L|ZNF418_ENST00000425570.3_Missense_Mutation_p.H297L|ZNF418_ENST00000600989.1_Intron	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	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)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		AACTCGCTGATGCTGAACAAG	0.433																																																0													90	92	91					19																	58438722		2189	4296	6485	SO:0001583	missense	147686			AB075836, AY695825	CCDS42642.1	19q13.43	2013-01-08				ENSG00000196724		"Zinc fingers, C2H2-type", "-"	20647	protein-coding gene	gene with protein product						11853319	Standard	NM_133460		Approved	KIAA1956, FLJ31551	uc002qqs.1	Q8TF45		ENST00000396147.1:c.827A>T	chr19.hg19:g.58438722T>A	ENSP00000379451:p.His276Leu		Q2M1S2|Q670L5|Q96N18	Missense_Mutation	SNP	ENST00000396147.1	hg19	CCDS42642.1	.	.	.	.	.	.	.	.	.	.	.	11.49	1.655252	0.29425	.	.	ENSG00000196724	ENST00000396147;ENST00000425570;ENST00000545403	D;D	0.86865	-2.18;-2.18	2.26	1.15	0.20763	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.90147	0.6921	H	0.98295	4.195	0.09310	N	0.999995	P	0.38110	0.618	B	0.33254	0.16	D	0.83866	0.0271	9	0.87932	D	0	.	6.5871	0.22626	0.2146:0.0:0.0:0.7854	.	276	Q8TF45	ZN418_HUMAN	L	276;297;242	ENSP00000379451:H276L;ENSP00000407039:H297L	ENSP00000379451:H276L	H	-	2	0	ZNF418	63130534	.	.	0.001000	0.08648	0.109000	0.19521	.	.	0.129000	0.18514	0.240000	0.17902	CAT		0.433	ZNF418-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466693.1	NM_133460		A	58438722	T	A	58438722	3	1	676	1	0	0	0	0	1	0	0	0	17900	1464	51	5	1207	5	ZNF418	19	58438722	Missense_Mutation	SNP	T	TCGA-HE-A5NK-01A-11D-A26P-10	482218	58438722	690261	75	37292											
CST9L	128821	hgsc.bcm.edu	37	20	23546696	23546696	+	Missense_Mutation	SNP	T	T	G			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr20:23546696T>G	ENST00000376979.3	-	2	567	c.269A>C	c.(268-270)gAg>gCg	p.E90A		NM_080610.2	NP_542177.1	Q9H4G1	CST9L_HUMAN	cystatin 9-like	90						extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8	Colorectal(13;0.0431)|Lung NSC(19;0.235)					CAGCAGTAGCTCCATTGAGAA	0.468																																																0													205	177	187					20																	23546696		2203	4300	6503	SO:0001583	missense	128821				CCDS13157.1	20p11.21	2012-08-14	2008-03-06		ENSG00000101435	ENSG00000101435			16233	protein-coding gene	gene with protein product			"cystatin 9 (mouse)-like"			20565543	Standard	NM_080610		Approved	bA218C14.1, CTES7B	uc002wtk.4	Q9H4G1	OTTHUMG00000032073	ENST00000376979.3:c.269A>C	chr20.hg19:g.23546696T>G	ENSP00000366178:p.Glu90Ala		B2R5A1	Missense_Mutation	SNP	ENST00000376979.3	hg19	CCDS13157.1	.	.	.	.	.	.	.	.	.	.	T	12.87	2.067516	0.36470	.	.	ENSG00000101435	ENST00000376979	T	0.28666	1.6	1.92	1.92	0.25849	Proteinase inhibitor I25, cystatin (2);	0.919888	0.08938	N	0.872000	T	0.44265	0.1285	M	0.75264	2.295	0.09310	N	1	D	0.58970	0.984	P	0.55749	0.783	T	0.23619	-1.0183	10	0.37606	T	0.19	.	5.8418	0.18637	0.0:0.0:0.0:1.0	.	90	Q9H4G1	CST9L_HUMAN	A	90	ENSP00000366178:E90A	ENSP00000366178:E90A	E	-	2	0	CST9L	23494696	0.004000	0.15560	0.108000	0.21378	0.004000	0.04260	0.143000	0.16115	1.118000	0.41863	0.402000	0.26972	GAG		0.468	CST9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078338.1	NM_080610		G	23546696	T	G	23546696	3	3	676	1	0	0	0	0	1	0	0	0	3982	1551	54	5	182	5	CST9L	20	23546696	Missense_Mutation	SNP	T	TCGA-HE-A5NK-01A-11D-A26P-10		23546696	39478824	76	37293											
DHX35	60625	hgsc.bcm.edu	37	20	37653978	37653978	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr20:37653978C>T	ENST00000252011.3	+	18	1810	c.1777C>T	c.(1777-1779)Caa>Taa	p.Q593*	DHX35_ENST00000373323.4_Nonsense_Mutation_p.Q562*|DHX35_ENST00000373325.2_Nonsense_Mutation_p.Q593*	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	593					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)				TGTCAAGTTTCAAGTGCCCAG	0.443																																																0													176	185	182					20																	37653978		2203	4300	6503	SO:0001587	stop_gained	60625			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.1777C>T	chr20.hg19:g.37653978C>T	ENSP00000252011:p.Gln593*		A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Nonsense_Mutation	SNP	ENST00000252011.3	hg19	CCDS13310.1	.	.	.	.	.	.	.	.	.	.	C	38	6.967926	0.97971	.	.	ENSG00000101452	ENST00000373325;ENST00000252011;ENST00000373323;ENST00000373321;ENST00000449559	.	.	.	5.41	4.4	0.53042	.	0.097447	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.4304	0.44405	0.3784:0.6216:0.0:0.0	.	.	.	.	X	593;593;562;73;57	.	ENSP00000252011:Q593X	Q	+	1	0	DHX35	37087392	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.037000	0.64170	2.530000	0.85305	0.655000	0.94253	CAA		0.443	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079212.2	NM_021931		T	37653978	C	T	37653978	4	4	676	1	0	0	0	0	0	1	0	0	4510	827	29	2	1847	2	DHX35	20	37653978	Nonsense_Mutation	SNP	C	TCGA-HE-A5NK-01A-11D-A26P-10	14107282	37653978	25371542	77	37294											
SLC9A8	23315	hgsc.bcm.edu	37	20	48431566	48431566	+	Silent	SNP	T	T	C	rs536021956		TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr20:48431566T>C	ENST00000361573.2	+	2	90	c.48T>C	c.(46-48)caT>caC	p.H16H	SLC9A8_ENST00000417961.1_Silent_p.H16H|SLC9A8_ENST00000539601.1_5'UTR|SLC9A8_ENST00000541138.1_5'UTR			Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	16					ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	potassium:proton antiporter activity (GO:0015386)|sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			ATACAACTCATGAGGGTTTCA	0.522																																																0													90	78	82					20																	48431566		2203	4300	6503	SO:0001819	synonymous_variant	23315			AB023156	CCDS13421.1, CCDS58774.1	20q13.13	2013-05-22	2012-03-22		ENSG00000197818	ENSG00000197818		"Solute carriers"	20728	protein-coding gene	gene with protein product		612730	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 8", "solute carrier family 9 (sodium/hydrogen exchanger), member 8"			12409279	Standard	NM_001260491		Approved	KIAA0939, NHE8	uc002xuv.2	Q9Y2E8	OTTHUMG00000032710	ENST00000361573.2:c.48T>C	chr20.hg19:g.48431566T>C			B4DTQ8|Q2M1U9|Q68CZ8|Q9BX15|Q9Y507	Silent	SNP	ENST00000361573.2	hg19	CCDS13421.1																																																																																				0.522	SLC9A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106483.3	XM_030524		C	48431566	T	C	48431566	2	2	676	1	0	0	0	0	0	0	0	1	14726	1461	51	3		3	SLC9A8	20	48431566	Silent	SNP	T	TCGA-HE-A5NK-01A-11D-A26P-10	10777588	48431566	14593954	78	37295											
MYO18B	84700	hgsc.bcm.edu	37	22	26422672	26422672	+	Silent	SNP	C	C	T			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr22:26422672C>T	ENST00000407587.2	+	43	6904	c.6735C>T	c.(6733-6735)ccC>ccT	p.P2245P	MYO18B_ENST00000335473.7_Silent_p.P2244P|MYO18B_ENST00000536101.1_Silent_p.P2244P			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2244						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						AAAAGCTGCCCAGTCCTTCAG	0.607																																																0													24	25	25					22																	26422672		1910	4104	6014	SO:0001819	synonymous_variant	84700			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.6735C>T	chr22.hg19:g.26422672C>T			B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Silent	SNP	ENST00000407587.2	hg19		.	.	.	.	.	.	.	.	.	.	C	10.77	1.444427	0.25987	.	.	ENSG00000133454	ENST00000543971	T	0.55234	0.53	4.94	-4.84	0.03151	.	0.116110	0.34002	N	0.004359	T	0.50394	0.1613	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53315	-0.8456	7	0.72032	D	0.01	.	5.3684	0.16127	0.2432:0.2637:0.4198:0.0733	.	.	.	.	L	194	ENSP00000444262:P194L	ENSP00000444262:P194L	P	+	2	0	MYO18B	24752672	0.013000	0.17824	0.962000	0.40283	0.992000	0.81027	-1.785000	0.01767	-0.418000	0.07450	0.491000	0.48974	CCA		0.607	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		T	26422672	C	T	26422672	2	4	676	1	0	0	0	0	0	0	0	1	10068	581	21	2		2	MYO18B	22	26422672	Silent	SNP	C	TCGA-HE-A5NK-01A-11D-A26P-10		26422672	24881894	79	37296											
BAIAP2L2	80115	hgsc.bcm.edu	37	22	38483172	38483172	+	Silent	SNP	G	G	T	rs539447143	byFrequency	TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr22:38483172G>T	ENST00000381669.3	-	11	1362	c.1218C>A	c.(1216-1218)tcC>tcA	p.S406S	CTA-228A9.3_ENST00000609162.1_lincRNA	NM_025045.4	NP_079321.3	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	406					filopodium assembly (GO:0046847)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|signal transduction (GO:0007165)	cell-cell contact zone (GO:0044291)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	phospholipid binding (GO:0005543)			large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	8	Melanoma(58;0.045)					gtgtcatgggggacatggagg	0.662													G|||	30	0.00599042	0.0068	0.0014	5008	,	,		13061	0.0		0.004	False		,,,				2504	0.0164															0													31	37	35					22																	38483172		1925	4122	6047	SO:0001819	synonymous_variant	80115			BC015619	CCDS43018.1	22q13.1	2005-02-09			ENSG00000128298	ENSG00000128298			26203	protein-coding gene	gene with protein product							Standard	NM_025045		Approved	FLJ22582	uc003auw.3	Q6UXY1	OTTHUMG00000151197	ENST00000381669.3:c.1218C>A	chr22.hg19:g.38483172G>T			B0QYE2|Q96BG7	Silent	SNP	ENST00000381669.3	hg19	CCDS43018.1																																																																																				0.662	BAIAP2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321727.1	NM_025045		T	38483172	G	T	38483172	2	4	676	1	0	0	0	0	0	0	0	1	1303	1219	43	4		4	BAIAP2L2	22	38483172	Silent	SNP	G	TCGA-HE-A5NK-01A-11D-A26P-10	12060500	38483172	12821394	80	37297											
SMC1B	27127	hgsc.bcm.edu	37	22	45785629	45785629	+	Missense_Mutation	SNP	G	G	C			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr22:45785629G>C	ENST00000357450.4	-	10	1693	c.1694C>G	c.(1693-1695)gCt>gGt	p.A565G	SMC1B_ENST00000404354.3_Missense_Mutation_p.A565G	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	565	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)		CTCAGGTTCAGCTCTTTCCTC	0.383																																																0													150	138	141					22																	45785629		1873	4115	5988	SO:0001583	missense	27127			AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935		"Structural maintenance of chromosomes proteins"	11112	protein-coding gene	gene with protein product		608685	"SMC1 (structural maintenance of chromosomes 1, yeast)-like 1", "SMC1 structural maintenance of chromosomes 1-like 2 (yeast)"	SMC1L2		10591208, 11564881	Standard	XM_005261566		Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.1694C>G	chr22.hg19:g.45785629G>C	ENSP00000350036:p.Ala565Gly		A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Missense_Mutation	SNP	ENST00000357450.4	hg19	CCDS43027.1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.742185	0.30865	.	.	ENSG00000077935	ENST00000357450;ENST00000404354	D;D	0.86297	-2.1;-2.1	5.49	5.49	0.81192	SMCs flexible hinge (3);RecF/RecN/SMC (1);	0.108364	0.40728	N	0.001024	D	0.86674	0.5989	L	0.52759	1.655	0.58432	D	0.999991	B;B;B	0.24533	0.105;0.04;0.04	B;B;B	0.32289	0.143;0.037;0.037	T	0.82969	-0.0193	10	0.44086	T	0.13	.	19.3758	0.94508	0.0:0.0:1.0:0.0	.	565;565;565	Q8NDV3;Q8NDV3-2;Q8NDV3-3	SMC1B_HUMAN;.;.	G	565	ENSP00000350036:A565G;ENSP00000385902:A565G	ENSP00000350036:A565G	A	-	2	0	SMC1B	44164293	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.695000	0.61767	2.577000	0.86979	0.655000	0.94253	GCT		0.383	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322256.2	NM_148674		C	45785629	G	C	45785629	3	2	676	1	0	0	0	0	1	0	0	0	14788	971	34	4	2077	4	SMC1B	22	45785629	Missense_Mutation	SNP	G	TCGA-HE-A5NK-01A-11D-A26P-10	7302457	45785629	5518937	81	37298											
SHANK3	85358	hgsc.bcm.edu	37	22	51159826	51159826	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr22:51159826G>A	ENST00000414786.2	+	21	3750	c.3523G>A	c.(3523-3525)Gag>Aag	p.E1175K	SHANK3_ENST00000262795.3_Missense_Mutation_p.E1205K|SHANK3_ENST00000445220.2_Missense_Mutation_p.E1191K			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	1189					adult behavior (GO:0030534)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|brain morphogenesis (GO:0048854)|dendritic spine morphogenesis (GO:0060997)|guanylate kinase-associated protein clustering (GO:0097117)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell volume (GO:0045794)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glutamate receptor signaling pathway (GO:1900451)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse structural plasticity (GO:0051835)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density assembly (GO:0097107)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of long term synaptic depression (GO:1900452)|regulation of long-term synaptic potentiation (GO:1900271)|social behavior (GO:0035176)|striatal medium spiny neuron differentiation (GO:0021773)|synapse assembly (GO:0007416)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|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)		BRCA - Breast invasive adenocarcinoma(115;0.22)		GAAGTCACCCGAGGACAAGAA	0.662																																																0													39	48	45					22																	51159826		2100	4200	6300	SO:0001583	missense	85358			AB051437		22q13.3	2013-11-14			ENSG00000251322	ENSG00000251322		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14294	protein-coding gene	gene with protein product	"proline rich synapse associated protein 2", "shank postsynaptic density protein"	606230				11258795, 11431708, 10806096, 17173049	Standard	NM_033517		Approved	SPANK-2, prosap2, KIAA1650, PSAP2	uc031ryd.1	Q9BYB0	OTTHUMG00000150169	ENST00000414786.2:c.3523G>A	chr22.hg19:g.51159826G>A	ENSP00000464552:p.Glu1175Lys		D7UT47|Q8TET3	Missense_Mutation	SNP	ENST00000414786.2	hg19		.	.	.	.	.	.	.	.	.	.	G	15.47	2.843265	0.51057	.	.	ENSG00000251322	ENST00000262795;ENST00000445220	T;T	0.26373	1.74;1.74	4.58	4.58	0.56647	.	0.163605	0.51477	D	0.000081	T	0.25827	0.0629	M	0.70275	2.135	0.29353	N	0.865219	D;P;P	0.53462	0.96;0.492;0.921	B;B;B	0.34489	0.184;0.024;0.163	T	0.43556	-0.9384	10	0.56958	D	0.05	.	14.8583	0.70359	0.0:0.0:1.0:0.0	.	1189;1190;1205	D7UT47;Q9BYB0;F2Z3L0	.;SHAN3_HUMAN;.	K	1205;1191	ENSP00000442518:E1205K;ENSP00000446078:E1191K	ENSP00000442518:E1205K	E	+	1	0	SHANK3	49506692	1.000000	0.71417	0.875000	0.34327	0.943000	0.58893	8.323000	0.90002	2.093000	0.63338	0.462000	0.41574	GAG		0.662	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000316674.2	NM_001080420		A	51159826	G	A	51159826	3	1	676	1	0	0	0	0	1	0	0	0	14272	1059	37	1	3699	1	SHANK3	22	51159826	Missense_Mutation	SNP	G	TCGA-HE-A5NK-01A-11D-A26P-10	5374197	51159826	144740	82	37299											
BMP15	9210	hgsc.bcm.edu	37	X	50658965	50658965	+	Silent	SNP	C	C	T			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chrX:50658965C>T	ENST00000252677.3	+	2	537	c.537C>T	c.(535-537)aaC>aaT	p.N179N		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	179					female gamete generation (GO:0007292)|granulosa cell development (GO:0060016)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					TGATGTCTAACGCTTGGAAAG	0.473																																																0													116	94	101					X																	50658965		2203	4299	6502	SO:0001819	synonymous_variant	9210			AF082349	CCDS14334.1	Xp11.2	2013-02-06			ENSG00000130385	ENSG00000130385		"Bone morphogenetic proteins"	1068	protein-coding gene	gene with protein product		300247				9849956	Standard	NM_005448		Approved	GDF9B	uc011mnw.2	O95972	OTTHUMG00000021525	ENST00000252677.3:c.537C>T	chrX.hg19:g.50658965C>T			Q17RM6|Q5JST1|Q9UMS1	Silent	SNP	ENST00000252677.3	hg19	CCDS14334.1																																																																																				0.473	BMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056572.1	NM_005448		T	50658965	C	T	50658965	2	4	676	1	0	0	0	0	0	0	0	1	1458	535	19	1		1	BMP15	23	50658965	Silent	SNP	C	TCGA-HE-A5NK-01A-11D-A26P-10		50658965	104611595	83	37300											
ZCCHC5	203430	hgsc.bcm.edu	37	X	77913359	77913359	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	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																																																0													41	41	41					X																	77913359		2203	4300	6503	SO:0001583	missense	203430			AK096184	CCDS14440.1	Xq13.3	2008-02-05			ENSG00000179300	ENSG00000179300		"Zinc fingers, CCHC domain containing"	22997	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_152694		Approved	FLJ38865, Mar3, Mart3, ZHC5	uc004edc.1	Q8N8U3	OTTHUMG00000021892	ENST00000321110.1:c.559C>T	chrX.hg19:g.77913359G>A	ENSP00000316794:p.Pro187Ser		B2RMZ0|Q5JQE9	Missense_Mutation	SNP	ENST00000321110.1	hg19	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		A	77913359	G	A	77913359	3	1	676	1	0	0	0	0	1	0	0	0	17596	1261	44	2	872	2	ZCCHC5	23	77913359	Missense_Mutation	SNP	G	TCGA-HE-A5NK-01A-11D-A26P-10	27254394	77913359	77357201	84	37301											
PRAMEF12	390999	hgsc.bcm.edu	37	1	12837407	12837407	+	Missense_Mutation	SNP	A	A	T			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr1:12837407A>T	ENST00000357726.4	+	3	1144	c.1117A>T	c.(1117-1119)Agc>Tgc	p.S373C		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	373					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					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)		GCCTGCCCTGAGCCGCTGCTC	0.627																																																0													99	101	100					1																	12837407		2203	4300	6503	SO:0001583	missense	390999				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.1117A>T	chr1.hg19:g.12837407A>T	ENSP00000350358:p.Ser373Cys			Missense_Mutation	SNP	ENST00000357726.4	hg19	CCDS41254.1	.	.	.	.	.	.	.	.	.	.	.	15.97	2.990792	0.54041	.	.	ENSG00000116726	ENST00000357726	T	0.12672	2.66	2.72	1.59	0.23543	.	0.618526	0.16899	N	0.194981	T	0.32102	0.0818	M	0.83384	2.64	0.27627	N	0.948171	D	0.89917	1.0	D	0.85130	0.997	T	0.10451	-1.0629	10	0.56958	D	0.05	.	3.0429	0.06143	0.6004:0.2557:0.1439:0.0	.	373	O95522	PRA12_HUMAN	C	373	ENSP00000350358:S373C	ENSP00000350358:S373C	S	+	1	0	PRAMEF12	12759994	0.357000	0.24938	0.906000	0.35671	0.303000	0.27691	-0.407000	0.07178	0.455000	0.26910	0.164000	0.16699	AGC		0.627	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005457.1	XM_372760		T	12837407	A	T	12837407	3	4	677	1	0	0	0	0	1	0	0	0	12433	304	11	5	1127	5	PRAMEF12	1	12837407	Missense_Mutation	SNP	A	TCGA-HE-A5NL-01A-11D-A26P-10		12837407	236413214	1	37302											
SPEN	23013	hgsc.bcm.edu	37	1	16257911	16257911	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr1:16257911G>A	ENST00000375759.3	+	11	5380	c.5176G>A	c.(5176-5178)Gac>Aac	p.D1726N		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1726					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)		TTCATCAGGTGACCAGCCGCC	0.587																																																0													136	148	144					1																	16257911		2203	4300	6503	SO:0001583	missense	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.5176G>A	chr1.hg19:g.16257911G>A	ENSP00000364912:p.Asp1726Asn		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	hg19	CCDS164.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.032932	0.54790	.	.	ENSG00000065526	ENST00000375759	T	0.09163	3.01	5.16	4.25	0.50352	.	.	.	.	.	T	0.08891	0.0220	N	0.24115	0.695	0.09310	N	1	B	0.32245	0.361	B	0.30646	0.118	T	0.24548	-1.0157	9	0.40728	T	0.16	-3.0207	13.4332	0.61068	0.0759:0.0:0.9241:0.0	.	1726	Q96T58	MINT_HUMAN	N	1726	ENSP00000364912:D1726N	ENSP00000364912:D1726N	D	+	1	0	SPEN	16130498	0.999000	0.42202	0.001000	0.08648	0.749000	0.42624	6.058000	0.71126	1.152000	0.42452	0.467000	0.42956	GAC		0.587	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		A	16257911	G	A	16257911	3	1	677	1	0	0	0	0	1	0	0	0	15043	1290	45	2	5218	2	SPEN	1	16257911	Missense_Mutation	SNP	G	TCGA-HE-A5NL-01A-11D-A26P-10	3420504	16257911	232992710	2	37303											
CADM3	57863	hgsc.bcm.edu	37	1	159170698	159170698	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr1:159170698G>T	ENST00000368125.4	+	9	1340	c.1183G>T	c.(1183-1185)Gaa>Taa	p.E395*	CTA-134P22.2_ENST00000415675.2_RNA|CTA-134P22.2_ENST00000609696.1_RNA|CADM3_ENST00000368124.4_Nonsense_Mutation_p.E429*|CADM3_ENST00000497636.1_3'UTR|DARC_ENST00000537147.1_5'Flank	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	395					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					CGACAAGAAGGAATATTTCAT	0.617																																																0													78	76	77					1																	159170698		2203	4300	6503	SO:0001587	stop_gained	57863			AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17601	protein-coding gene	gene with protein product	"nectin-like 1"	609743	"immunoglobulin superfamily, member 4B"	IGSF4B		11536053	Standard	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.1183G>T	chr1.hg19:g.159170698G>T	ENSP00000357107:p.Glu395*		Q8IZQ9|Q9NVJ5|Q9UJP1	Nonsense_Mutation	SNP	ENST00000368125.4	hg19	CCDS44251.1	.	.	.	.	.	.	.	.	.	.	G	38	6.895315	0.97916	.	.	ENSG00000162706	ENST00000368124;ENST00000368125	.	.	.	3.81	3.81	0.43845	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.48571	D	0.999671	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.2211	0.59887	0.0:0.0:1.0:0.0	.	.	.	.	X	429;395	.	ENSP00000357106:E429X	E	+	1	0	CADM3	157437322	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.966000	0.93397	1.965000	0.57142	0.591000	0.81541	GAA		0.617	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090330.1	NM_021189		T	159170698	G	T	159170698	4	4	677	1	0	0	0	0	0	1	0	0	2570	1175	41	4	1323	4	CADM3	1	159170698	Nonsense_Mutation	SNP	G	TCGA-HE-A5NL-01A-11D-A26P-10	142912787	159170698	90079923	3	37304											
C1orf129	80133	hgsc.bcm.edu	37	1	170965712	170965712	+	Missense_Mutation	SNP	C	C	G			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr1:170965712C>G	ENST00000367758.3	+	14	1501	c.1402C>G	c.(1402-1404)Cta>Gta	p.L468V	MROH9_ENST00000367759.4_Missense_Mutation_p.L468V	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	468																	GGATATTACTCTAATGAAGGA	0.443																																																0													181	172	175					1																	170965712		1873	4113	5986	SO:0001583	missense	80133			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.1402C>G	chr1.hg19:g.170965712C>G	ENSP00000356732:p.Leu468Val		A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Missense_Mutation	SNP	ENST00000367758.3	hg19	CCDS41436.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.85|17.85	3.489337|3.489337	0.64074|0.64074	.|.	.|.	ENSG00000117501|ENSG00000117501	ENST00000367759;ENST00000367758|ENST00000426136	T;T|.	0.67698|.	-0.28;1.49|.	5.75|5.75	5.75|5.75	0.90469|0.90469	Armadillo-like helical (1);|.	0.127327|.	0.36101|.	N|.	0.002798|.	T|T	0.49626|0.49626	0.1568|0.1568	M|M	0.69823|0.69823	2.125|2.125	0.29405|0.29405	N|N	0.86168|0.86168	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.85130|.	0.997;0.997|.	T|T	0.49390|0.49390	-0.8945|-0.8945	10|5	0.72032|.	D|.	0.01|.	-13.2876|-13.2876	15.4599|15.4599	0.75346|0.75346	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	468;468|.	F5GWX6;Q5TGP6|.	.;CA129_HUMAN|.	V|C	468|74	ENSP00000356733:L468V;ENSP00000356732:L468V|.	ENSP00000356732:L468V|.	L|S	+|+	1|2	2|0	C1orf129|C1orf129	169232336|169232336	0.790000|0.790000	0.28787|0.28787	0.271000|0.271000	0.24616|0.24616	0.008000|0.008000	0.06430|0.06430	3.549000|3.549000	0.53681|0.53681	2.716000|2.716000	0.92895|0.92895	0.655000|0.655000	0.94253|0.94253	CTA|TCT		0.443	MROH9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000099327.1	NM_025063		G	170965712	C	G	170965712	3	3	677	1	0	0	0	0	1	0	0	0	1998	912	32	4	1452	4	C1orf129	1	170965712	Missense_Mutation	SNP	C	TCGA-HE-A5NL-01A-11D-A26P-10	11795014	170965712	78284909	4	37305											
LYST	1130	hgsc.bcm.edu	37	1	235872510	235872510	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr1:235872510G>A	ENST00000389794.3	-	44	10198	c.10024C>T	c.(10024-10026)Cgg>Tgg	p.R3342W	LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.R3342W			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3342	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.				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)			AGAGCCTGCCGATGGATGAGG	0.483																																																0													97	95	96					1																	235872510		2203	4300	6503	SO:0001583	missense	1130			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.10024C>T	chr1.hg19:g.235872510G>A	ENSP00000374444:p.Arg3342Trp		O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	hg19	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.601748	0.87055	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.74209	-0.82;-0.82	5.39	4.47	0.54385	BEACH domain (4);	0.000000	0.85682	D	0.000000	D	0.91345	0.7270	H	0.98005	4.125	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94675	0.7860	10	0.87932	D	0	.	15.9845	0.80142	0.0:0.0:0.8645:0.1355	.	3342	Q99698	LYST_HUMAN	W	3342	ENSP00000374444:R3342W;ENSP00000374443:R3342W	ENSP00000374443:R3342W	R	-	1	2	LYST	233939133	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.049000	0.71053	1.391000	0.46566	0.655000	0.94253	CGG		0.483	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			A	235872510	G	A	235872510	3	1	677	1	0	0	0	0	1	0	0	0	9130	1057	37	1	1421	1	LYST	1	235872510	Missense_Mutation	SNP	G	TCGA-HE-A5NL-01A-11D-A26P-10	64906798	235872510	13378111	5	37306											
NCOA1	8648	hgsc.bcm.edu	37	2	24929447	24929447	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr2:24929447G>A	ENST00000406961.1	+	13	1760	c.1108G>A	c.(1108-1110)Ggg>Agg	p.G370R	NCOA1_ENST00000407230.1_Missense_Mutation_p.G219R|NCOA1_ENST00000395856.3_Missense_Mutation_p.G370R|NCOA1_ENST00000538539.1_Missense_Mutation_p.G370R|NCOA1_ENST00000405141.1_Missense_Mutation_p.G370R|NCOA1_ENST00000348332.3_Missense_Mutation_p.G370R|NCOA1_ENST00000288599.5_Missense_Mutation_p.G370R			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	370	Interaction with STAT3.				androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|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)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|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)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAGCACAGTGGGCTTTCTCC	0.383			T	PAX3	alveolar rhadomyosarcoma																																		Dom	yes		2	2p23	8648	nuclear receptor coactivator 1		M	0													65	66	66					2																	24929447		2203	4300	6503	SO:0001583	missense	8648			U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.1108G>A	chr2.hg19:g.24929447G>A	ENSP00000385216:p.Gly370Arg		O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Missense_Mutation	SNP	ENST00000406961.1	hg19	CCDS1712.1	.	.	.	.	.	.	.	.	.	.	G	7.212	0.595682	0.13875	.	.	ENSG00000084676	ENST00000406961;ENST00000405141;ENST00000407230;ENST00000538539;ENST00000348332;ENST00000288599;ENST00000395856	T;T;T;T;T;T;T	0.02158	4.54;4.54;4.42;4.54;4.54;4.54;4.54	5.02	5.02	0.67125	.	0.298923	0.37483	N	0.002071	T	0.01940	0.0061	L	0.34521	1.04	0.29230	N	0.873364	B;B;B;B	0.31790	0.34;0.28;0.014;0.203	B;B;B;B	0.33392	0.101;0.163;0.049;0.127	T	0.38156	-0.9674	10	0.20046	T	0.44	.	4.5462	0.12081	0.083:0.1533:0.6049:0.1588	.	370;370;370;219	Q15788-3;Q15788;Q15788-2;B5MCN7	.;NCOA1_HUMAN;.;.	R	370;370;219;370;370;370;370	ENSP00000385216:G370R;ENSP00000385097:G370R;ENSP00000385195:G219R;ENSP00000444039:G370R;ENSP00000320940:G370R;ENSP00000288599:G370R;ENSP00000379197:G370R	ENSP00000288599:G370R	G	+	1	0	NCOA1	24782951	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.987000	0.49378	2.485000	0.83878	0.655000	0.94253	GGG		0.383	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3	NM_147223		A	24929447	G	A	24929447	3	1	677	1	0	0	0	0	1	0	0	0	10230	1348	47	2	1142	2	NCOA1	2	24929447	Missense_Mutation	SNP	G	TCGA-HE-A5NL-01A-11D-A26P-10		24929447	218269926	6	37307											
TTL	150465	hgsc.bcm.edu	37	2	113260589	113260589	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr2:113260589delA	ENST00000233336.6	+	5	897	c.706delA	c.(706-708)aaafs	p.K236fs		NM_153712.4	NP_714923.1	Q8NG68	TTL_HUMAN	tubulin tyrosine ligase	236	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)|microtubule cytoskeleton organization (GO:0000226)|regulation of axon extension (GO:0030516)		ATP binding (GO:0005524)|tubulin-tyrosine ligase activity (GO:0004835)			breast(1)|large_intestine(2)|ovary(1)	4		Ovarian(717;0.024)		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)		TTTCCAAGACAAAACCTGCCA	0.388			T	ETV6	ALL																																		Dom	yes		2	2q13	150465	tubulin tyrosine ligase		L	0													126	124	125					2																	113260589		2203	4300	6503	SO:0001589	frameshift_variant	150465				CCDS2096.1	2q13	2010-04-21			ENSG00000114999	ENSG00000114999	6.3.2.25		21586	protein-coding gene	gene with protein product		608291				11431336	Standard	NM_153712		Approved	MGC46235	uc002thu.3	Q8NG68	OTTHUMG00000131316	ENST00000233336.6:c.706delA	chr2.hg19:g.113260589delA	ENSP00000233336:p.Lys236fs		Q585T3|Q7Z302|Q8N426	Frame_Shift_Del	DEL	ENST00000233336.6	hg19	CCDS2096.1																																																																																				0.388	TTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254085.2	NM_153712		-	113260589	A	-	113260589	7	5	677	1	0	1	0	1	0	0	0	0	16726	131	5	0	724	0	TTL	2	113260589	Frame_Shift_Del	DEL	A	TCGA-HE-A5NL-01A-11D-A26P-10	88331142	113260589	129938784	7	37308											
GAD1	2571	hgsc.bcm.edu	37	2	171705820	171705820	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr2:171705820delA	ENST00000358196.3	+	12	1694	c.1144delA	c.(1144-1146)atgfs	p.M382fs		NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	382					gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate catabolic process (GO:0006538)|glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|protein-pyridoxal-5-phosphate linkage (GO:0018352)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						TGGGCTGCTCATGTCCAGGAA	0.537																																																0													76	67	70					2																	171705820		2203	4300	6503	SO:0001589	frameshift_variant	2571				CCDS2239.1, CCDS2240.1	2q31	2008-02-05	2002-08-29		ENSG00000128683	ENSG00000128683	4.1.1.15		4092	protein-coding gene	gene with protein product		605363	"glutamate decarboxylase 1 (brain, 67kD)"	GAD		1549570	Standard	XM_005246443		Approved		uc002ugi.3	Q99259	OTTHUMG00000044175	ENST00000358196.3:c.1144delA	chr2.hg19:g.171705820delA	ENSP00000350928:p.Met382fs		Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Frame_Shift_Del	DEL	ENST00000358196.3	hg19	CCDS2239.1																																																																																				0.537	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102664.2			-	171705820	A	-	171705820	7	5	677	1	0	1	0	1	0	0	0	0	6181	217	8	0	1227	0	GAD1	2	171705820	Frame_Shift_Del	DEL	A	TCGA-HE-A5NL-01A-11D-A26P-10	58445231	171705820	71493553	8	37309											
FN1	2335	hgsc.bcm.edu	37	2	216274676	216274676	+	Missense_Mutation	SNP	G	G	T			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr2:216274676G>T	ENST00000359671.1	-	14	2368	c.2103C>A	c.(2101-2103)agC>agA	p.S701R	FN1_ENST00000446046.1_Missense_Mutation_p.S701R|FN1_ENST00000356005.4_Missense_Mutation_p.S701R|FN1_ENST00000443816.1_Missense_Mutation_p.S701R|FN1_ENST00000345488.5_Missense_Mutation_p.S701R|FN1_ENST00000357867.4_Missense_Mutation_p.S701R|FN1_ENST00000323926.6_Missense_Mutation_p.S701R|FN1_ENST00000354785.4_Missense_Mutation_p.S701R|FN1_ENST00000421182.1_Missense_Mutation_p.S701R|FN1_ENST00000336916.4_Missense_Mutation_p.S701R|FN1_ENST00000432072.2_Missense_Mutation_p.S701R|FN1_ENST00000346544.3_Missense_Mutation_p.S701R|FN1_ENST00000357009.2_Missense_Mutation_p.S701R			P02751	FINC_HUMAN	fibronectin 1	701	Fibronectin type-III 1.				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)	GTGTGCTGGTGCTGGTGGTGG	0.557																																																0													370	375	373					2																	216274676		2203	4300	6503	SO:0001583	missense	2335				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.2103C>A	chr2.hg19:g.216274676G>T	ENSP00000352696:p.Ser701Arg		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	hg19		.	.	.	.	.	.	.	.	.	.	G	11.17	1.559369	0.27827	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005	T;T;T;T;T;T;T;T;T;T;T;T;T	0.47869	0.83;2.19;2.35;0.92;2.42;2.05;2.4;2.07;2.37;2.08;1.58;0.9;1.49	5.65	3.84	0.44239	.	0.360826	0.30464	N	0.009573	T	0.56077	0.1961	L	0.44542	1.39	0.42852	D	0.994085	D;B;B;B;B;P;D;B;B;D	0.89917	1.0;0.353;0.17;0.17;0.106;0.533;0.998;0.17;0.17;0.987	D;P;B;B;B;B;P;B;B;P	0.87578	0.998;0.522;0.079;0.127;0.036;0.326;0.865;0.127;0.127;0.904	T	0.54549	-0.8277	10	0.40728	T	0.16	.	8.8981	0.35476	0.2229:0.0:0.7771:0.0	.	701;701;701;701;701;701;701;701;701;701	P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.	R	701	ENSP00000394423:S701R;ENSP00000323534:S701R;ENSP00000338200:S701R;ENSP00000350534:S701R;ENSP00000346839:S701R;ENSP00000352696:S701R;ENSP00000265312:S701R;ENSP00000273049:S701R;ENSP00000349509:S701R;ENSP00000410422:S701R;ENSP00000415018:S701R;ENSP00000399538:S701R;ENSP00000348285:S701R	ENSP00000265313:S701R	S	-	3	2	FN1	215982921	1.000000	0.71417	0.896000	0.35187	0.102000	0.19082	1.257000	0.32932	1.531000	0.49152	-0.140000	0.14226	AGC		0.557	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		T	216274676	G	T	216274676	3	4	677	1	0	0	0	0	1	0	0	0	5964	1310	46	4	5462	4	FN1	2	216274676	Missense_Mutation	SNP	G	TCGA-HE-A5NL-01A-11D-A26P-10	44568856	216274676	26924697	9	37310											
PDCD6IP	10015	hgsc.bcm.edu	37	3	33840351	33840351	+	Missense_Mutation	SNP	A	A	C			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr3:33840351A>C	ENST00000307296.3	+	1	508	c.131A>C	c.(130-132)gAg>gCg	p.E44A	RP11-10C24.1_ENST00000605513.1_lincRNA|PDCD6IP_ENST00000457054.2_Missense_Mutation_p.E44A|RP11-10C24.3_ENST00000604982.1_lincRNA			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	44	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						CGCGCGGCGGAGGAGCTCAGC	0.692																																																0													10	11	11					3																	33840351		2139	4155	6294	SO:0001583	missense	10015			BC020066	CCDS2660.1, CCDS54561.1	3p22.3	2012-08-30	2001-11-29		ENSG00000170248	ENSG00000170248			8766	protein-coding gene	gene with protein product	"ALG-2 interacting protein X"	608074	"programmed cell death 6-interacting protein"			9880530	Standard	NM_001162429		Approved	Alix, AIP1, Hp95	uc003cfy.4	Q8WUM4	OTTHUMG00000130751	ENST00000307296.3:c.131A>C	chr3.hg19:g.33840351A>C	ENSP00000307387:p.Glu44Ala		C5MQH7|E9PFU1|Q6NUS1|Q9BX86|Q9NUN0|Q9P2H2|Q9UKL5	Missense_Mutation	SNP	ENST00000307296.3	hg19	CCDS2660.1	.	.	.	.	.	.	.	.	.	.	A	15.41	2.824727	0.50739	.	.	ENSG00000170248	ENST00000307296;ENST00000457054;ENST00000413073	T;T;T	0.16324	2.35;2.35;2.35	5.03	5.03	0.67393	BRO1 domain (3);	0.048074	0.85682	D	0.000000	T	0.09202	0.0227	N	0.13299	0.325	0.80722	D	1	B;B;B	0.09022	0.002;0.002;0.001	B;B;B	0.11329	0.006;0.006;0.002	T	0.14364	-1.0475	10	0.08381	T	0.77	-21.2451	11.3154	0.49388	0.8641:0.0:0.0:0.1359	.	44;44;44	C5MQH7;E9PFU1;Q8WUM4	.;.;PDC6I_HUMAN	A	44	ENSP00000307387:E44A;ENSP00000411825:E44A;ENSP00000406693:E44A	ENSP00000307387:E44A	E	+	2	0	PDCD6IP	33815355	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.731000	0.74785	2.108000	0.64289	0.482000	0.46254	GAG		0.692	PDCD6IP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253251.2			C	33840351	A	C	33840351	3	2	677	1	0	0	0	0	1	0	0	0	11626	304	11	5	133	5	PDCD6IP	3	33840351	Missense_Mutation	SNP	A	TCGA-HE-A5NL-01A-11D-A26P-10		33840351	164182079	10	37311											
ARHGEF3	50650	hgsc.bcm.edu	37	3	56766301	56766301	+	Missense_Mutation	SNP	C	C	A			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr3:56766301C>A	ENST00000296315.3	-	9	1361	c.1193G>T	c.(1192-1194)gGc>gTc	p.G398V	ARHGEF3_ENST00000413728.2_Missense_Mutation_p.G404V|ARHGEF3_ENST00000497267.1_Missense_Mutation_p.G369V|ARHGEF3_ENST00000496106.1_Missense_Mutation_p.G404V|ARHGEF3_ENST00000495373.1_Missense_Mutation_p.G398V|ARHGEF3_ENST00000338458.4_Missense_Mutation_p.G430V	NM_019555.2	NP_062455.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	398	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)		TCGCAGGGAGCCACCCAGCCT	0.552																																																0													116	102	106					3																	56766301		2203	4300	6503	SO:0001583	missense	50650			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.1193G>T	chr3.hg19:g.56766301C>A	ENSP00000296315:p.Gly398Val		A8K5U7|Q4FZB6|Q4QQI5|Q4QQQ0|Q59F00|Q6NUN3|Q7Z4U2|Q7Z5T2|Q9H7T4	Missense_Mutation	SNP	ENST00000296315.3	hg19	CCDS2878.1	.	.	.	.	.	.	.	.	.	.	C	32	5.120131	0.94385	.	.	ENSG00000163947	ENST00000296315;ENST00000338458;ENST00000413728;ENST00000496106;ENST00000497267;ENST00000495373	T;T;T;T;T;T	0.28666	1.88;1.79;1.8;1.8;1.82;1.6	5.83	5.83	0.93111	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.55016	0.1894	M	0.73962	2.25	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.998;0.999;1.0;0.999;0.998;0.999	D;D;D;D;D;D;D	0.79108	0.982;0.97;0.982;0.982;0.982;0.97;0.992	T	0.46871	-0.9160	10	0.09590	T	0.72	-7.7666	20.1218	0.97964	0.0:1.0:0.0:0.0	.	404;369;196;398;430;398;404	E9PG37;E7EU49;Q9NR81-4;C9J586;Q9NR81-2;Q9NR81;Q9NR81-3	.;.;.;.;.;ARHG3_HUMAN;.	V	398;430;404;404;369;398	ENSP00000296315:G398V;ENSP00000341071:G430V;ENSP00000410922:G404V;ENSP00000420420:G404V;ENSP00000418826:G369V;ENSP00000417986:G398V	ENSP00000296315:G398V	G	-	2	0	ARHGEF3	56741341	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.763000	0.94921	0.561000	0.74099	GGC		0.552	ARHGEF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352431.2	NM_019555		A	56766301	C	A	56766301	3	1	677	1	0	0	0	0	1	0	0	0	904	739	26	4	395	4	ARHGEF3	3	56766301	Missense_Mutation	SNP	C	TCGA-HE-A5NL-01A-11D-A26P-10	22925950	56766301	141256129	11	37312											
SPON2	10417	hgsc.bcm.edu	37	4	1164263	1164263	+	Missense_Mutation	SNP	C	C	A			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr4:1164263C>A	ENST00000290902.5	-	5	1070	c.738G>T	c.(736-738)caG>caT	p.Q246H	SPON2_ENST00000431380.1_Missense_Mutation_p.Q246H|RP11-20I20.4_ENST00000609548.1_RNA	NM_012445.3	NP_036577	Q9BUD6	SPON2_HUMAN	spondin 2, extracellular matrix protein	246					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)		CCCTGGGGCTCTGTCGCAGCC	0.637																																																0													104	102	103					4																	1164263		2203	4300	6503	SO:0001583	missense	10417			AB027466	CCDS3347.1	4p16.3	2008-07-29			ENSG00000159674	ENSG00000159674			11253	protein-coding gene	gene with protein product	"Mindin", "M-spondin"	605918				10512675, 15094111	Standard	NM_012445		Approved	DIL1	uc003gco.4	Q9BUD6	OTTHUMG00000089002	ENST00000290902.5:c.738G>T	chr4.hg19:g.1164263C>A	ENSP00000290902:p.Gln246His		D3DVN9|Q4W5N4|Q9ULW1	Missense_Mutation	SNP	ENST00000290902.5	hg19	CCDS3347.1	.	.	.	.	.	.	.	.	.	.	C	4.701	0.130282	0.08981	.	.	ENSG00000159674	ENST00000290902;ENST00000431380	T;T	0.10005	2.92;2.92	4.73	0.866	0.19079	.	0.275166	0.40640	N	0.001054	T	0.10465	0.0256	M	0.62723	1.935	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.01281	0.0;0.0	T	0.20773	-1.0265	10	0.48119	T	0.1	.	5.9277	0.19122	0.0:0.4937:0.254:0.2523	.	246;246	D3DVN9;Q9BUD6	.;SPON2_HUMAN	H	246	ENSP00000290902:Q246H;ENSP00000394832:Q246H	ENSP00000290902:Q246H	Q	-	3	2	SPON2	1154263	0.003000	0.15002	0.455000	0.27031	0.047000	0.14425	-0.195000	0.09546	0.077000	0.16863	0.603000	0.83216	CAG		0.637	SPON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202080.2			A	1164263	C	A	1164263	3	1	677	1	0	0	0	0	1	0	0	0	15088	912	32	4	265	4	SPON2	4	1164263	Missense_Mutation	SNP	C	TCGA-HE-A5NL-01A-11D-A26P-10		1164263	189990013	12	37313											
SEL1L3	23231	hgsc.bcm.edu	37	4	25819805	25819806	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr4:25819805_25819806insT	ENST00000399878.3	-	9	1640_1641	c.1518_1519insA	c.(1516-1521)aaacacfs	p.H507fs	SEL1L3_ENST00000502949.1_Frame_Shift_Ins_p.H354fs|SEL1L3_ENST00000264868.5_Frame_Shift_Ins_p.H472fs	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	507						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						AAGCTGGGGTGTTTGTCTTTCA	0.55																																																0																																										SO:0001589	frameshift_variant	23231			BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"KIAA0746 protein"					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.1519dupA	chr4.hg19:g.25819808_25819808dupT	ENSP00000382767:p.His507fs		A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Frame_Shift_Ins	INS	ENST00000399878.3	hg19	CCDS47037.1																																																																																				0.55	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1	NM_015187		T	25819806	-	T	25819805	7	5	677	1	0	1	1	0	0	0	0	0	14018	1377	48	0	1943	0	SEL1L3	4	25819805	Frame_Shift_Ins	INS	-	TCGA-HE-A5NL-01A-11D-A26P-10	24655542	25819805	165334471	13	37314											
KLB	152831	hgsc.bcm.edu	37	4	39435931	39435931	+	Silent	SNP	G	G	T			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr4:39435931G>T	ENST00000257408.4	+	2	1024	c.927G>T	c.(925-927)cgG>cgT	p.R309R		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	309	Glycosyl hydrolase-1 1.				carbohydrate metabolic process (GO:0005975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor binding (GO:0017134)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						AGCCAAACCGGTCGGAAAACA	0.473																																																0													118	101	107					4																	39435931		2203	4300	6503	SO:0001819	synonymous_variant	152831			AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962			15527	protein-coding gene	gene with protein product		611135					Standard	NM_175737		Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.927G>T	chr4.hg19:g.39435931G>T			Q2M3K8	Silent	SNP	ENST00000257408.4	hg19	CCDS3451.1																																																																																				0.473	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250429.1	NM_175737		T	39435931	G	T	39435931	2	4	677	1	0	0	0	0	0	0	0	1	8334	1248	44	4		4	KLB	4	39435931	Silent	SNP	G	TCGA-HE-A5NL-01A-11D-A26P-10	13616126	39435931	151718345	14	37315											
GABRG1	2565	hgsc.bcm.edu	37	4	46043272	46043272	+	Splice_Site	SNP	C	C	T			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr4:46043272C>T	ENST00000295452.4	-	9	1299		c.e9-1			NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1						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)	CAGGAGTCATCTGAGCACAAT	0.388																																																0													44	46	45					4																	46043272		2203	4297	6500	SO:0001630	splice_region_variant	2565			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.1132-1G>A	chr4.hg19:g.46043272C>T			Q5H9T8	Splice_Site	SNP	ENST00000295452.4	hg19	CCDS3470.1	.	.	.	.	.	.	.	.	.	.	C	10.91	1.483181	0.26598	.	.	ENSG00000163285	ENST00000295452;ENST00000540030	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.36548	D	0.871662	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.8364	0.40971	0.0:0.9066:0.0:0.0934	.	.	.	.	.	-1	.	.	.	-	.	.	GABRG1	45738029	0.279000	0.24239	0.267000	0.24556	0.006000	0.05464	1.471000	0.35365	2.436000	0.82500	0.585000	0.79938	.		0.388	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536	Intron	T	46043272	C	T	46043272	5	4	677	1	0	0	0	0	0	0	1	0	6173	927	32	2	270	2	GABRG1	4	46043272	Splice_Site	SNP	C	TCGA-HE-A5NL-01A-11D-A26P-10	6607341	46043272	145111004	15	37316											
FAT4	79633	hgsc.bcm.edu	37	4	126239108	126239108	+	Silent	SNP	T	T	C			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr4:126239108T>C	ENST00000394329.3	+	1	1555	c.1542T>C	c.(1540-1542)atT>atC	p.I514I		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	514	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						GTTACAGCATTGTCTCTGGCA	0.562											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													63	65	65					4																	126239108		2203	4300	6503	SO:0001819	synonymous_variant	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.1542T>C	chr4.hg19:g.126239108T>C		1548	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	hg19	CCDS3732.3																																																																																				0.562	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		C	126239108	T	C	126239108	2	2	677	1	0	0	0	0	0	0	0	1	5694	1800	63	3		3	FAT4	4	126239108	Silent	SNP	T	TCGA-HE-A5NL-01A-11D-A26P-10	80195836	126239108	64915168	16	37317											
HAND2	9464	hgsc.bcm.edu	37	4	174450317	174450317	+	Missense_Mutation	SNP	A	A	T			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr4:174450317A>T	ENST00000359562.4	-	1	1063	c.124T>A	c.(124-126)Tac>Aac	p.Y42N	HAND2-AS1_ENST00000507636.1_RNA|HAND2-AS1_ENST00000507571.1_RNA|HAND2-AS1_ENST00000507062.1_RNA|HAND2-AS1_ENST00000504740.1_RNA|HAND2-AS1_ENST00000512099.1_RNA|HAND2-AS1_ENST00000505817.1_RNA|HAND2-AS1_ENST00000515310.1_RNA|HAND2-AS1_ENST00000511196.1_RNA|HAND2-AS1_ENST00000512929.1_RNA|HAND2-AS1_ENST00000514431.1_RNA|HAND2-AS1_ENST00000509866.1_RNA|HAND2-AS1_ENST00000511728.1_RNA|HAND2-AS1_ENST00000514673.1_RNA|HAND2-AS1_ENST00000515345.1_RNA|HAND2-AS1_ENST00000508887.1_RNA|HAND2-AS1_ENST00000505621.1_RNA|HAND2-AS1_ENST00000512246.1_RNA|HAND2-AS1_ENST00000502334.1_RNA|HAND2-AS1_ENST00000510268.1_RNA|HAND2-AS1_ENST00000515376.1_RNA|HAND2-AS1_ENST00000515350.1_RNA|HAND2-AS1_ENST00000503198.1_RNA|HAND2-AS1_ENST00000503474.1_RNA|HAND2-AS1_ENST00000508534.1_RNA|HAND2-AS1_ENST00000507322.1_RNA|HAND2-AS1_ENST00000510339.1_RNA|HAND2-AS1_ENST00000509640.1_RNA|HAND2-AS1_ENST00000515741.1_RNA|HAND2-AS1_ENST00000505032.1_RNA|HAND2-AS1_ENST00000502896.1_RNA|HAND2-AS1_ENST00000504429.1_RNA|HAND2-AS1_ENST00000503309.1_RNA|HAND2-AS1_ENST00000512943.1_RNA|HAND2_ENST00000505300.1_5'UTR|HAND2-AS1_ENST00000512209.2_RNA|HAND2-AS1_ENST00000510221.1_RNA|HAND2-AS1_ENST00000502941.1_RNA	NM_021973.2	NP_068808.1	P61296	HAND2_HUMAN	heart and neural crest derivatives expressed 2	42					adult heart development (GO:0007512)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic process involved in heart morphogenesis (GO:0003278)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cardiac right ventricle formation (GO:0003219)|cartilage morphogenesis (GO:0060536)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|coronary artery morphogenesis (GO:0060982)|embryonic digit morphogenesis (GO:0042733)|heart development (GO:0007507)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mesenchymal cell proliferation (GO:0010463)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of DNA binding (GO:0043392)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural crest cell development (GO:0014032)|noradrenergic neuron differentiation (GO:0003357)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peripheral nervous system neuron development (GO:0048935)|positive regulation of semaphorin-plexin signaling pathway involved in outflow tract morphogenesis (GO:2000764)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in norepinephrine biosynthetic process (GO:2000763)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of transcription, DNA-templated (GO:0006355)|suckling behavior (GO:0001967)|sympathetic nervous system development (GO:0048485)|thymus development (GO:0048538)|tongue development (GO:0043586)|visceral serous pericardium development (GO:0061032)	nuclear chromatin (GO:0000790)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|E-box binding (GO:0070888)|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 regulatory region sequence-specific DNA binding (GO:0000977)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	13		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		CCATGGAAGTAGGGGTTCTCC	0.726																																																0													5	6	6					4																	174450317		1939	3897	5836	SO:0001583	missense	9464			AF087941	CCDS3819.1	4q34.1	2014-08-12			ENSG00000164107	ENSG00000164107		"Basic helix-loop-helix proteins"	4808	protein-coding gene	gene with protein product		602407				9878849	Standard	NM_021973		Approved	dHand, Thing2, Hed, bHLHa26	uc003ith.1	P61296	OTTHUMG00000160775	ENST00000359562.4:c.124T>A	chr4.hg19:g.174450317A>T	ENSP00000352565:p.Tyr42Asn		B6ECG9|O95300|O95301|P97833|Q494T1	Missense_Mutation	SNP	ENST00000359562.4	hg19	CCDS3819.1	.	.	.	.	.	.	.	.	.	.	A	18.74	3.688940	0.68271	.	.	ENSG00000164107	ENST00000359562;ENST00000393686	D	0.97066	-4.23	3.57	3.57	0.40892	.	0.281047	0.34178	N	0.004194	D	0.96078	0.8722	L	0.38175	1.15	0.58432	D	0.999995	D;D;D	0.63046	0.992;0.992;0.986	P;P;P	0.57204	0.815;0.815;0.701	D	0.94998	0.8140	10	0.39692	T	0.17	-0.0407	12.291	0.54819	1.0:0.0:0.0:0.0	.	42;42;42	B6ECG9;P61296;E9PCP7	.;HAND2_HUMAN;.	N	42	ENSP00000352565:Y42N	ENSP00000352565:Y42N	Y	-	1	0	HAND2	174686892	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.391000	0.66266	1.491000	0.48482	0.379000	0.24179	TAC		0.726	HAND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362241.3			T	174450317	A	T	174450317	3	4	677	1	0	0	0	0	1	0	0	0	6952	420	15	5	537	5	HAND2	4	174450317	Missense_Mutation	SNP	A	TCGA-HE-A5NL-01A-11D-A26P-10	48211209	174450317	16703959	17	37318											
WDR17	116966	hgsc.bcm.edu	37	4	177056301	177056301	+	Missense_Mutation	SNP	G	G	A	rs140987021		TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr4:177056301G>A	ENST00000280190.4	+	9	1369	c.1213G>A	c.(1213-1215)Gat>Aat	p.D405N	WDR17_ENST00000393643.2_Missense_Mutation_p.D381N|WDR17_ENST00000508596.1_Missense_Mutation_p.D381N|WDR17_ENST00000507824.2_Missense_Mutation_p.D388N			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	405										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)		CAAACCTGACGATCCTAATCT	0.353																																																0								G	ASN/ASP,ASN/ASP	0,4406		0,0,2203	121	122	122		1213,1141	2.4	1	4	dbSNP_134	122	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	WDR17	NM_170710.4,NM_181265.3	23,23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	405/1323,381/1284	177056301	1,13005	2203	4300	6503	SO:0001583	missense	116966			AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"WD repeat domain containing"	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.1213G>A	chr4.hg19:g.177056301G>A	ENSP00000280190:p.Asp405Asn		E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	hg19	CCDS3825.1	.	.	.	.	.	.	.	.	.	.	G	10.35	1.326502	0.24080	0.0	1.16E-4	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	T;T;T	0.58652	0.35;3.58;0.32	5.5	2.42	0.29668	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);WD40-repeat-containing domain (1);	0.265065	0.38164	N	0.001790	T	0.30324	0.0761	N	0.13198	0.31	0.48571	D	0.999678	B;B	0.19445	0.036;0.036	B;B	0.18871	0.023;0.023	T	0.15150	-1.0447	10	0.05525	T	0.97	-17.5458	6.7154	0.23300	0.433:0.0:0.567:0.0	.	381;405	E7EQX0;Q8IZU2	.;WDR17_HUMAN	N	381;381;405;388	ENSP00000422763:D381N;ENSP00000377258:D381N;ENSP00000280190:D405N	ENSP00000280190:D405N	D	+	1	0	WDR17	177293295	1.000000	0.71417	0.998000	0.56505	0.740000	0.42216	3.339000	0.52135	0.703000	0.31848	0.650000	0.86243	GAT		0.353	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			A	177056301	G	A	177056301	3	1	677	1	0	0	0	0	1	0	0	0	17282	1058	37	1	1243	1	WDR17	4	177056301	Missense_Mutation	SNP	G	TCGA-HE-A5NL-01A-11D-A26P-10	2605984	177056301	14097975	18	37319											
RGMB	285704	hgsc.bcm.edu	37	5	98115590	98115591	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10	GG	GG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr5:98115590_98115591delGG	ENST00000513185.1	+	2	879_880	c.443_444delGG	c.(442-444)aggfs	p.R148fs	RGMB_ENST00000308234.7_Frame_Shift_Del_p.R189fs|RGMB_ENST00000504776.1_3'UTR			Q6NW40	RGMB_HUMAN	repulsive guidance molecule family member b	148					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell adhesion (GO:0007155)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	anchored component of plasma membrane (GO:0046658)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)	identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		GCTGGAGCCAGGGAACACAGGA	0.51																																																0																																										SO:0001589	frameshift_variant	285704			AK074887	CCDS47251.1	5q21.1	2013-11-06	2013-11-06		ENSG00000174136	ENSG00000174136			26896	protein-coding gene	gene with protein product		612687	"RGM domain family, member B"			19324014	Standard	NM_001012761		Approved	FLJ90406, DRAGON	uc003knc.3	Q6NW40	OTTHUMG00000162745	ENST00000513185.1:c.443_444delGG	chr5.hg19:g.98115590_98115591delGG	ENSP00000423256:p.Arg148fs		D6R9A0|Q8NC92	Frame_Shift_Del	DEL	ENST00000513185.1	hg19																																																																																					0.51	RGMB-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370308.1	NM_173670		-	98115591	GG	-	98115590	7	5	677	1	0	1	0	1	0	0	0	0	13287	1000	35	0	576	0	RGMB	5	98115590	Frame_Shift_Del	DEL	GG	TCGA-HE-A5NL-01A-11D-A26P-10		98115590	82799670	19	37320											
ANKHD1	54882	hgsc.bcm.edu	37	5	139876316	139876316	+	Silent	SNP	A	A	G			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr5:139876316A>G	ENST00000360839.2	+	15	2611	c.2457A>G	c.(2455-2457)gaA>gaG	p.E819E	ANKHD1_ENST00000462121.1_3'UTR|ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.E819E|ANKHD1_ENST00000297183.6_Silent_p.E819E	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	819						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGATAGAAGAACTTAAAAAGA	0.368																																																0													69	73	71					5																	139876316		2203	4300	6503	SO:0001819	synonymous_variant	54882			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"Ankyrin repeat domain containing"	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.2457A>G	chr5.hg19:g.139876316A>G			A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Silent	SNP	ENST00000360839.2	hg19	CCDS4225.1																																																																																				0.368	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		G	139876316	A	G	139876316	2	3	677	1	0	0	0	0	0	0	0	1	628	40	2	3		3	ANKHD1	5	139876316	Silent	SNP	A	TCGA-HE-A5NL-01A-11D-A26P-10	41760726	139876316	41038944	20	37321											
FAT2	2196	hgsc.bcm.edu	37	5	150921871	150921871	+	Missense_Mutation	SNP	G	G	T			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr5:150921871G>T	ENST00000261800.5	-	9	8829	c.8817C>A	c.(8815-8817)aaC>aaA	p.N2939K		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2939	Cadherin 26. {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)			TGACCTGCCTGTTCTGCTCAG	0.502																																																0													127	121	123					5																	150921871		2203	4300	6503	SO:0001583	missense	2196			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.8817C>A	chr5.hg19:g.150921871G>T	ENSP00000261800:p.Asn2939Lys		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	hg19	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.921781	0.73213	.	.	ENSG00000086570	ENST00000261800	T	0.59906	0.23	6.05	1.26	0.21427	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000002	T	0.76807	0.4039	M	0.89601	3.045	0.47511	D	0.999445	D	0.89917	1.0	D	0.97110	1.0	T	0.77199	-0.2675	10	0.56958	D	0.05	.	10.6765	0.45789	0.4552:0.0:0.5448:0.0	.	2939	Q9NYQ8	FAT2_HUMAN	K	2939	ENSP00000261800:N2939K	ENSP00000261800:N2939K	N	-	3	2	FAT2	150902064	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	1.206000	0.32321	0.147000	0.19030	0.650000	0.86243	AAC		0.502	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		T	150921871	G	T	150921871	3	4	677	1	0	0	0	0	1	0	0	0	5692	1368	48	4	4292	4	FAT2	5	150921871	Missense_Mutation	SNP	G	TCGA-HE-A5NL-01A-11D-A26P-10	11045555	150921871	29993389	21	37322											
KIF4B	285643	hgsc.bcm.edu	37	5	154395501	154395501	+	Silent	SNP	G	G	A			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr5:154395501G>A	ENST00000435029.4	+	1	2242	c.2082G>A	c.(2080-2082)caG>caA	p.Q694Q		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	694	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)			GAAACTTCCAGAAACAATCCA	0.438																																																0													103	107	106					5																	154395501		2203	4300	6503	SO:0001819	synonymous_variant	285643			AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"Kinesins"	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.2082G>A	chr5.hg19:g.154395501G>A				Silent	SNP	ENST00000435029.4	hg19	CCDS47324.1																																																																																				0.438	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			A	154395501	G	A	154395501	2	1	677	1	0	0	0	0	0	0	0	1	8306	933	33	2		2	KIF4B	5	154395501	Silent	SNP	G	TCGA-HE-A5NL-01A-11D-A26P-10	3473630	154395501	26519759	22	37323											
CASP8AP2	9994	hgsc.bcm.edu	37	6	90577520	90577520	+	RNA	SNP	G	G	T			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr6:90577520G>T	ENST00000551025.1	+	0	5948									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)		AATTCAAGCAGTAAATCAAGT	0.423																																					Colon(187;1656 2025 17045 31481 39901)											0													84	80	82					6																	90577520		1902	4115	6017			9994			AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"FLICE-associated huge protein"	606880	"CASP8 associated protein 2"			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		chr6.hg19:g.90577520G>T				Missense_Mutation	SNP	ENST00000551025.1	hg19																																																																																					0.423	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		NM_001137667		T	90577520	G	T	90577520	1	4	677	0	1	0	0	0	0	0	0	0	2680	1029	36	4		4	CASP8AP2	6	90577520	RNA	SNP	G	TCGA-HE-A5NL-01A-11D-A26P-10		90577520	80537547	23	37324											
FBXO30	84085	hgsc.bcm.edu	37	6	146126628	146126628	+	Missense_Mutation	SNP	C	C	T			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr6:146126628C>T	ENST00000237281.4	-	2	1080	c.914G>A	c.(913-915)gGt>gAt	p.G305D		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	305							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G305D(1)		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)		TTTTGAATCACCATGTAAATT	0.403																																																1	Substitution - Missense(1)	lung(1)											125	119	121					6																	146126628		2203	4300	6503	SO:0001583	missense	84085			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.914G>A	chr6.hg19:g.146126628C>T	ENSP00000237281:p.Gly305Asp		Q9BXZ7	Missense_Mutation	SNP	ENST00000237281.4	hg19	CCDS5208.1	.	.	.	.	.	.	.	.	.	.	C	0.042	-1.281092	0.01398	.	.	ENSG00000118496	ENST00000237281	T	0.17691	2.26	5.29	0.298	0.15766	.	1.121610	0.06334	N	0.706654	T	0.02767	0.0083	L	0.36672	1.1	0.22127	N	0.999344	B	0.02656	0.0	B	0.01281	0.0	T	0.40905	-0.9538	10	0.08381	T	0.77	-3.4918	2.8503	0.05555	0.1103:0.4508:0.2365:0.2024	.	305	Q8TB52	FBX30_HUMAN	D	305	ENSP00000237281:G305D	ENSP00000237281:G305D	G	-	2	0	FBXO30	146168321	0.000000	0.05858	0.946000	0.38457	0.946000	0.59487	0.028000	0.13644	0.046000	0.15833	0.655000	0.94253	GGT		0.403	FBXO30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042570.2			T	146126628	C	T	146126628	3	4	677	1	0	0	0	0	1	0	0	0	5742	507	18	2	1331	2	FBXO30	6	146126628	Missense_Mutation	SNP	C	TCGA-HE-A5NL-01A-11D-A26P-10	55549108	146126628	24988439	24	37325											
ABCB4	5244	hgsc.bcm.edu	37	7	87037472	87037472	+	Missense_Mutation	SNP	C	C	T			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr7:87037472C>T	ENST00000265723.4	-	25	3271	c.3160G>A	c.(3160-3162)Ggg>Agg	p.G1054R	ABCB4_ENST00000358400.3_Missense_Mutation_p.G1007R|ABCB4_ENST00000359206.3_Missense_Mutation_p.G1054R|ABCB4_ENST00000545634.1_Missense_Mutation_p.G1054R|ABCB4_ENST00000453593.1_Missense_Mutation_p.G1007R	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	1054	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				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)	AGGCTCAGCCCCTGAAGCACT	0.498																																																0													82	80	81					7																	87037472		2203	4300	6503	SO:0001583	missense	5244			M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"ATP binding cassette transporters / subfamily B"	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.3160G>A	chr7.hg19:g.87037472C>T	ENSP00000265723:p.Gly1054Arg		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	hg19	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.390489	0.82902	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	D;D;D;D;D	0.91011	-2.77;-2.77;-2.77;-2.77;-2.77	5.19	3.18	0.36537	ABC transporter-like (1);	0.158975	0.56097	N	0.000029	D	0.92632	0.7659	L	0.51914	1.62	0.80722	D	1	P;D;P	0.54047	0.947;0.964;0.939	P;D;D	0.68943	0.789;0.961;0.914	D	0.91904	0.5534	10	0.87932	D	0	-4.0274	11.256	0.49054	0.0:0.8415:0.0:0.1585	.	1007;1054;1054	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	R	1054;1007;1054;1007;1054	ENSP00000352135:G1054R;ENSP00000351172:G1007R;ENSP00000265723:G1054R;ENSP00000392983:G1007R;ENSP00000437465:G1054R	ENSP00000265723:G1054R	G	-	1	0	ABCB4	86875408	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	4.034000	0.57289	0.565000	0.29255	0.655000	0.94253	GGG		0.498	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		T	87037472	C	T	87037472	3	4	677	1	0	0	0	0	1	0	0	0	43	623	22	2	716	2	ABCB4	7	87037472	Missense_Mutation	SNP	C	TCGA-HE-A5NL-01A-11D-A26P-10		87037472	72101191	25	37326											
SLC25A40	55972	hgsc.bcm.edu	37	7	87466048	87466048	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr7:87466048delA	ENST00000341119.5	-	11	1247	c.901delT	c.(901-903)tcafs	p.S301fs		NM_018843.3	NP_061331.2	Q8TBP6	S2540_HUMAN	solute carrier family 25, member 40	301					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17	Esophageal squamous(14;0.00202)					TTTTTACCTGAAAATAATCCG	0.264																																																0													25	27	26					7																	87466048		2182	4244	6426	SO:0001589	frameshift_variant	55972			AF125531	CCDS5610.1	7q21.12	2013-05-22			ENSG00000075303	ENSG00000075303		"Solute carriers"	29680	protein-coding gene	gene with protein product		610821				16949250	Standard	NM_018843		Approved	MCFP	uc003uje.3	Q8TBP6	OTTHUMG00000131033	ENST00000341119.5:c.901delT	chr7.hg19:g.87466048delA	ENSP00000344831:p.Ser301fs		A8K483|D6W5P6|Q53GB1|Q9UHR1	Frame_Shift_Del	DEL	ENST00000341119.5	hg19	CCDS5610.1																																																																																				0.264	SLC25A40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253677.5	NM_018843		-	87466048	A	-	87466048	7	5	677	1	0	1	0	1	0	0	0	0	14511	246	9	0	123	0	SLC25A40	7	87466048	Frame_Shift_Del	DEL	A	TCGA-HE-A5NL-01A-11D-A26P-10	428576	87466048	71672615	26	37327											
TECPR1	25851	hgsc.bcm.edu	37	7	97847037	97847037	+	Silent	SNP	C	C	T			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr7:97847037C>T	ENST00000447648.2	-	25	3650	c.3351G>A	c.(3349-3351)gaG>gaA	p.E1117E	TECPR1_ENST00000379795.3_Silent_p.E1119E			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	1117					autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGCCCTTGGGCTCGTGAGGCT	0.667																																																0													12	16	15					7																	97847037		2009	3915	5924	SO:0001819	synonymous_variant	25851				CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.3351G>A	chr7.hg19:g.97847037C>T			A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Silent	SNP	ENST00000447648.2	hg19	CCDS47648.1																																																																																				0.667	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334661.1	NM_015395		T	97847037	C	T	97847037	2	4	677	1	0	0	0	0	0	0	0	1	15748	796	28	2		2	TECPR1	7	97847037	Silent	SNP	C	TCGA-HE-A5NL-01A-11D-A26P-10	10380989	97847037	61291626	27	37328											
MEPCE	56257	hgsc.bcm.edu	37	7	100030705	100030705	+	Missense_Mutation	SNP	T	T	A			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr7:100030705T>A	ENST00000310512.2	+	2	2223	c.1835T>A	c.(1834-1836)aTc>aAc	p.I612N	PPP1R35_ENST00000476185.1_5'Flank|RP11-758P17.2_ENST00000492523.1_RNA|MEPCE_ENST00000414441.1_Missense_Mutation_p.I143N	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	612	Bin3-type SAM. {ECO:0000255|PROSITE- ProRule:PRU00848}.				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)					CCTGGGGGCATCCTGGTCCTA	0.577																																																0													72	69	70					7																	100030705		2203	4300	6503	SO:0001583	missense	56257			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.1835T>A	chr7.hg19:g.100030705T>A	ENSP00000308546:p.Ile612Asn		B3KP86|D6W5V7|Q9NPD4	Missense_Mutation	SNP	ENST00000310512.2	hg19	CCDS5693.1	.	.	.	.	.	.	.	.	.	.	T	19.74	3.883852	0.72410	.	.	ENSG00000146834	ENST00000414441;ENST00000425355;ENST00000310512	T;T	0.46819	0.86;0.86	5.37	5.37	0.77165	Bin3-type S-adenosyl-L-methionine binding domain (1);Bicoid-interacting 3 (1);	0.077394	0.52532	D	0.000064	T	0.50837	0.1639	L	0.45352	1.415	0.45066	D	0.998087	D	0.59357	0.985	P	0.58013	0.831	T	0.46470	-0.9189	10	0.29301	T	0.29	-24.0822	8.2283	0.31582	0.0:0.0895:0.0:0.9105	.	612	Q7L2J0	MEPCE_HUMAN	N	143;143;612	ENSP00000400875:I143N;ENSP00000308546:I612N	ENSP00000308546:I612N	I	+	2	0	MEPCE	99868641	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	5.644000	0.67902	2.156000	0.67533	0.379000	0.24179	ATC		0.577	MEPCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339135.1			A	100030705	T	A	100030705	3	1	677	1	0	0	0	0	1	0	0	0	9479	1435	50	5	1841	5	MEPCE	7	100030705	Missense_Mutation	SNP	T	TCGA-HE-A5NL-01A-11D-A26P-10	2183668	100030705	59107958	28	37329											
ELP3	55140	hgsc.bcm.edu	37	8	28047190	28047190	+	Missense_Mutation	SNP	G	G	C			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr8:28047190G>C	ENST00000256398.8	+	15	1969	c.1592G>C	c.(1591-1593)aGa>aCa	p.R531T	ELP3_ENST00000537665.1_Missense_Mutation_p.R412T|ELP3_ENST00000542181.1_Missense_Mutation_p.R402T|ELP3_ENST00000521015.1_Missense_Mutation_p.R517T|ELP3_ENST00000524103.1_Missense_Mutation_p.R459T|ELP3_ENST00000380353.4_Missense_Mutation_p.R439T	NM_001284220.1|NM_001284226.1|NM_018091.5	NP_001271149.1|NP_001271155.1|NP_060561.3	Q9H9T3	ELP3_HUMAN	elongator acetyltransferase complex subunit 3	531	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				chromatin organization (GO:0006325)|positive regulation of cell migration (GO:0030335)|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)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	histone acetyltransferase activity (GO:0004402)|iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|phosphorylase kinase regulator activity (GO:0008607)			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		AATTATTATAGAAAGATCGGC	0.468																																																0													127	132	130					8																	28047190		2203	4300	6503	SO:0001583	missense	55140				CCDS6065.1, CCDS64860.1, CCDS64861.1, CCDS75717.1, CCDS75718.1	8p21.1	2012-08-14	2012-08-08		ENSG00000134014	ENSG00000134014		"Chromatin-modifying enzymes / K-acetyltransferases", "Elongator acetyltransferase complex subunits"	20696	protein-coding gene	gene with protein product		612722	"elongation protein 3 homolog (S. cerevisiae)"			11714725	Standard	NM_018091		Approved	FLJ10422, KAT9	uc003xgo.4	Q9H9T3	OTTHUMG00000102124	ENST00000256398.8:c.1592G>C	chr8.hg19:g.28047190G>C	ENSP00000256398:p.Arg531Thr		B4DE19|B4DIG1|E2QRI5|Q53G84|Q6AWB0|Q9BVF7|Q9NVZ1	Missense_Mutation	SNP	ENST00000256398.8	hg19	CCDS6065.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.297498	0.60086	.	.	ENSG00000134014	ENST00000521015;ENST00000256398;ENST00000542181;ENST00000524103;ENST00000537665;ENST00000380353	T;T;T;T;T;T	0.22743	1.94;1.94;1.94;1.94;1.94;1.94	5.13	5.13	0.70059	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	D	0.000000	T	0.44371	0.1290	H	0.96604	3.85	0.58432	D	0.999995	B;B	0.24576	0.106;0.062	B;B	0.31337	0.128;0.128	T	0.56238	-0.8012	10	0.72032	D	0.01	-17.8026	13.9575	0.64160	0.0:0.0:1.0:0.0	.	412;531	B4DE19;Q9H9T3	.;ELP3_HUMAN	T	517;531;402;459;412;439	ENSP00000428449:R517T;ENSP00000256398:R531T;ENSP00000439242:R402T;ENSP00000429180:R459T;ENSP00000445558:R412T;ENSP00000369711:R439T	ENSP00000256398:R531T	R	+	2	0	ELP3	28103109	1.000000	0.71417	0.978000	0.43139	0.982000	0.71751	4.723000	0.61965	2.669000	0.90835	0.655000	0.94253	AGA		0.468	ELP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219963.2	NM_018091		C	28047190	G	C	28047190	3	2	677	1	0	0	0	0	1	0	0	0	5083	942	33	4	1650	4	ELP3	8	28047190	Missense_Mutation	SNP	G	TCGA-HE-A5NL-01A-11D-A26P-10		28047190	118316832	29	37330											
TRIM55	84675	hgsc.bcm.edu	37	8	67064722	67064722	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr8:67064722delT	ENST00000315962.4	+	8	1469	c.1096delT	c.(1096-1098)tttfs	p.F366fs	TRIM55_ENST00000276573.7_Frame_Shift_Del_p.F366fs|TRIM55_ENST00000353317.5_Frame_Shift_Del_p.F366fs|TRIM55_ENST00000350034.4_Intron	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	366					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)			TCAAACAGAGTTTCCAGGAGA	0.498																																																0													70	70	70					8																	67064722		2203	4300	6503	SO:0001589	frameshift_variant	84675			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.1096delT	chr8.hg19:g.67064722delT	ENSP00000323913:p.Phe366fs		B3KRC0|B3KRJ3|Q53XX3|Q8IUD9|Q8IUE4|Q96DV2|Q96DV3|Q9BYV5	Frame_Shift_Del	DEL	ENST00000315962.4	hg19	CCDS6184.1																																																																																				0.498	TRIM55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378921.1	NM_184085		-	67064722	T	-	67064722	7	5	677	1	0	1	0	1	0	0	0	0	16534	1725	60	0	1126	0	TRIM55	8	67064722	Frame_Shift_Del	DEL	T	TCGA-HE-A5NL-01A-11D-A26P-10	39017532	67064722	79299300	30	37331											
CSMD3	114788	hgsc.bcm.edu	37	8	113516202	113516202	+	Missense_Mutation	SNP	T	T	C			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr8:113516202T>C	ENST00000297405.5	-	30	5144	c.4900A>G	c.(4900-4902)Agc>Ggc	p.S1634G	CSMD3_ENST00000352409.3_Missense_Mutation_p.S1634G|CSMD3_ENST00000343508.3_Missense_Mutation_p.S1594G|CSMD3_ENST00000455883.2_Missense_Mutation_p.S1530G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1634	CUB 9. {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						GGTTCTATGCTAAAACTgaaa	0.308										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																						0													69	67	68					8																	113516202		2203	4300	6503	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.4900A>G	chr8.hg19:g.113516202T>C	ENSP00000297405:p.Ser1634Gly		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	hg19	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	19.81	3.897390	0.72639	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.18174	2.23;2.23;2.23;2.23;2.23	4.96	4.96	0.65561	CUB (5);	0.056809	0.64402	D	0.000002	T	0.31104	0.0786	L	0.55990	1.75	0.33482	D	0.587596	B;B;P	0.49635	0.007;0.008;0.926	B;B;P	0.58454	0.026;0.044;0.839	T	0.33266	-0.9875	10	0.22706	T	0.39	.	14.7774	0.69740	0.0:0.0:0.0:1.0	.	1530;1634;1594	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	G	1594;1634;974;1530;1634	ENSP00000345799:S1594G;ENSP00000297405:S1634G;ENSP00000341558:S974G;ENSP00000412263:S1530G;ENSP00000343124:S1634G	ENSP00000297405:S1634G	S	-	1	0	CSMD3	113585378	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.657000	0.83745	2.069000	0.61940	0.455000	0.32223	AGC		0.308	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		C	113516202	T	C	113516202	3	2	677	1	0	0	0	0	1	0	0	0	3948	1522	53	3	6391	3	CSMD3	8	113516202	Missense_Mutation	SNP	T	TCGA-HE-A5NL-01A-11D-A26P-10	46451480	113516202	32847820	31	37332	280	2									
CSMD3	114788	hgsc.bcm.edu	37	8	113516207	113516207	+	Splice_Site	SNP	C	C	G	rs76670724		TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr8:113516207C>G	ENST00000297405.5	-	30	5140		c.e30-1		CSMD3_ENST00000352409.3_Splice_Site|CSMD3_ENST00000343508.3_Splice_Site|CSMD3_ENST00000455883.2_Splice_Site	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3							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						TATGCTAAAACTgaaaaaaaa	0.318										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																						0													61	60	60					8																	113516207		2203	4299	6502	SO:0001630	splice_region_variant	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.4896-1G>C	chr8.hg19:g.113516207C>G			Q96PZ3	Splice_Site	SNP	ENST00000297405.5	hg19	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.736213	0.69189	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	.	.	.	4.96	4.96	0.65561	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.378	0.90441	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CSMD3	113585383	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	7.446000	0.80609	2.560000	0.86352	0.557000	0.71058	.		0.318	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	Intron	G	113516207	C	G	113516207	5	3	677	1	0	0	0	0	0	0	1	0	3948	579	20	4	6396	4	CSMD3	8	113516207	Splice_Site	SNP	C	TCGA-HE-A5NL-01A-11D-A26P-10	5	113516207	32847815	32	37333	280	2									
ZNF79	7633	hgsc.bcm.edu	37	9	130206739	130206739	+	Missense_Mutation	SNP	T	T	C			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr9:130206739T>C	ENST00000342483.5	+	5	1166	c.760T>C	c.(760-762)Tgt>Cgt	p.C254R	ZNF79_ENST00000543471.1_Missense_Mutation_p.C230R	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	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(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						GTGCAGTGAATGTGGAAGAGC	0.532																																																0													101	92	95					9																	130206739		2203	4300	6503	SO:0001583	missense	7633			X65232	CCDS6871.1, CCDS69664.1, CCDS75904.1	9q34	2013-01-08	2006-05-12		ENSG00000196152	ENSG00000196152		"Zinc fingers, C2H2-type"	13153	protein-coding gene	gene with protein product		194552	"zinc finger protein 79 (pT7)"			8478004	Standard	NM_007135		Approved	pT7	uc004bqw.4	Q15937	OTTHUMG00000020703	ENST00000342483.5:c.760T>C	chr9.hg19:g.130206739T>C	ENSP00000362446:p.Cys254Arg		Q5VVW1|Q96NV1	Missense_Mutation	SNP	ENST00000342483.5	hg19	CCDS6871.1	.	.	.	.	.	.	.	.	.	.	T	16.12	3.034463	0.54896	.	.	ENSG00000196152	ENST00000342483;ENST00000543471	D;D	0.85955	-2.05;-2.05	3.53	2.38	0.29361	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.92404	0.7589	H	0.98682	4.3	0.80722	D	1	D	0.53745	0.962	P	0.53313	0.723	D	0.90977	0.4824	9	0.87932	D	0	.	6.7985	0.23738	0.0:0.1169:0.0:0.8831	.	254	Q15937	ZNF79_HUMAN	R	254;230	ENSP00000362446:C254R;ENSP00000438418:C230R	ENSP00000362446:C254R	C	+	1	0	ZNF79	129246560	1.000000	0.71417	0.659000	0.29680	0.986000	0.74619	5.308000	0.65768	0.555000	0.29079	0.533000	0.62120	TGT		0.532	ZNF79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054188.1	NM_007135		C	130206739	T	C	130206739	3	2	677	1	0	0	0	0	1	0	0	0	18166	1464	51	3	778	3	ZNF79	9	130206739	Missense_Mutation	SNP	T	TCGA-HE-A5NL-01A-11D-A26P-10		130206739	11006692	33	37334											
ACBD5	91452	hgsc.bcm.edu	37	10	27529275	27529275	+	Missense_Mutation	SNP	T	T	G			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr10:27529275T>G	ENST00000375888.1	-	1	212	c.148A>C	c.(148-150)Aag>Cag	p.K50Q	ACBD5_ENST00000375901.1_5'UTR|ACBD5_ENST00000375905.4_Missense_Mutation_p.K17Q|ACBD5_ENST00000396271.3_Missense_Mutation_p.K52Q|ACBD5_ENST00000476758.1_5'UTR|RP11-85G18.6_ENST00000574842.1_lincRNA|ACBD5_ENST00000375897.3_5'UTR			Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	50	ACB. {ECO:0000255|PROSITE- ProRule:PRU00573}.				peroxisome degradation (GO:0030242)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisome (GO:0005777)	fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						TGGATCACCTTCACGGCCGCC	0.617																																																0													101	91	94					10																	27529275		2203	4300	6503	SO:0001583	missense	91452			AF505653	CCDS7154.1, CCDS44368.1, CCDS73079.1	10p12.1	2010-04-30	2010-04-30		ENSG00000107897	ENSG00000107897			23338	protein-coding gene	gene with protein product			"acyl-Coenzyme A binding domain containing 5"			12056414	Standard	NR_024150		Approved	DKFZp434A2417, KIAA1996	uc010qdp.2	Q5T8D3	OTTHUMG00000017854	ENST00000375888.1:c.148A>C	chr10.hg19:g.27529275T>G	ENSP00000365049:p.Lys50Gln		B3KQ56|D3DRW0|Q5T8D4|Q5T8E1|Q5T8E2|Q86UV1|Q8N6E3|Q9UFB5	Missense_Mutation	SNP	ENST00000375888.1	hg19		.	.	.	.	.	.	.	.	.	.	T	24.0	4.487454	0.84854	.	.	ENSG00000107897	ENST00000375889;ENST00000396271;ENST00000375905;ENST00000375888;ENST00000426079;ENST00000412279	T;T;T;T;T	0.23754	1.89;1.89;1.89;1.89;1.89	4.87	4.87	0.63330	.	0.087964	0.85682	D	0.000000	T	0.42921	0.1224	L	0.45352	1.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.99	T	0.25082	-1.0142	10	0.46703	T	0.11	-20.8054	14.7721	0.69688	0.0:0.0:0.0:1.0	.	52;50	Q5T8D3-3;B7Z2R7	.;.	Q	47;52;17;50;59;17	ENSP00000379568:K52Q;ENSP00000365070:K17Q;ENSP00000365049:K50Q;ENSP00000401591:K59Q;ENSP00000393398:K17Q	ENSP00000365049:K50Q	K	-	1	0	ACBD5	27569281	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	4.285000	0.58989	1.945000	0.56424	0.383000	0.25322	AAG		0.617	ACBD5-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000047314.1	NM_145698		G	27529275	T	G	27529275	3	3	677	1	0	0	0	0	1	0	0	0	125	1792	62	5	1471	5	ACBD5	10	27529275	Missense_Mutation	SNP	T	TCGA-HE-A5NL-01A-11D-A26P-10		27529275	108005472	34	37335											
MUC5B	727897	hgsc.bcm.edu	37	11	1264092	1264092	+	Silent	SNP	C	C	T			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr11:1264092C>T	ENST00000529681.1	+	31	6040	c.5982C>T	c.(5980-5982)cgC>cgT	p.R1994R	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.R1997R	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1994	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)		CCTGGACCCGCCTATCACAGA	0.637																																																0													118	172	154					11																	1264092		2117	4210	6327	SO:0001819	synonymous_variant	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.5982C>T	chr11.hg19:g.1264092C>T			O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	hg19	CCDS44515.2																																																																																				0.637	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		T	1264092	C	T	1264092	2	4	677	1	0	0	0	0	0	0	0	1	9981	726	26	2		2	MUC5B	11	1264092	Silent	SNP	C	TCGA-HE-A5NL-01A-11D-A26P-10		1264092	133742424	35	37336											
NAV2	89797	hgsc.bcm.edu	37	11	19890497	19890497	+	Missense_Mutation	SNP	T	T	A			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr11:19890497T>A	ENST00000396087.3	+	4	564	c.465T>A	c.(463-465)aaT>aaA	p.N155K	NAV2_ENST00000360655.4_Missense_Mutation_p.N91K|NAV2_ENST00000396085.1_Missense_Mutation_p.N155K|NAV2_ENST00000527559.2_Missense_Mutation_p.N84K|NAV2_ENST00000534229.1_3'UTR|NAV2_ENST00000540292.1_Missense_Mutation_p.N86K|NAV2_ENST00000349880.4_Missense_Mutation_p.N155K	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	155	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				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)			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						CCTGCTTGAATTTCCTGGCAG	0.438																																																0													70	71	70					11																	19890497		2199	4293	6492	SO:0001583	missense	89797			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.465T>A	chr11.hg19:g.19890497T>A	ENSP00000379396:p.Asn155Lys		A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	hg19	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	T	16.47	3.133723	0.56828	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292	T;T;T;T;T;T	0.56444	0.46;0.46;0.46;0.46;0.46;0.46	5.87	5.87	0.94306	.	0.090463	0.47852	D	0.000201	T	0.36166	0.0957	N	0.05177	-0.1	0.80722	D	1	B;B	0.20052	0.002;0.041	B;B	0.34722	0.034;0.188	T	0.29610	-1.0006	9	.	.	.	.	13.7906	0.63138	0.0:0.0:0.0:1.0	.	155;91	Q8IVL1-3;Q8IVL1-4	.;.	K	91;155;155;155;84;86	ENSP00000353871:N91K;ENSP00000379394:N155K;ENSP00000309577:N155K;ENSP00000379396:N155K;ENSP00000435395:N84K;ENSP00000443489:N86K	.	N	+	3	2	NAV2	19847073	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.897000	0.39799	2.242000	0.73789	0.533000	0.62120	AAT		0.438	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		A	19890497	T	A	19890497	3	1	677	1	0	0	0	0	1	0	0	0	10186	1490	52	5	558	5	NAV2	11	19890497	Missense_Mutation	SNP	T	TCGA-HE-A5NL-01A-11D-A26P-10	18626405	19890497	115116019	36	37337											
GAS2	2620	hgsc.bcm.edu	37	11	22759307	22759307	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr11:22759307G>A	ENST00000454584.2	+	5	771	c.466G>A	c.(466-468)Gca>Aca	p.A156T	GAS2_ENST00000433790.1_Missense_Mutation_p.A156T|GAS2_ENST00000278187.3_Missense_Mutation_p.A156T	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	156	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|regulation of cell shape (GO:0008360)	actin filament (GO:0005884)|cytosol (GO:0005829)|membrane (GO:0016020)				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						TGGCCGGATTGCAGCCAGGTA	0.458																																																0													145	122	130					11																	22759307		2203	4300	6503	SO:0001583	missense	2620			BC040470	CCDS7858.1	11p14.3	2005-10-11			ENSG00000148935	ENSG00000148935			4167	protein-coding gene	gene with protein product		602835				9521882	Standard	NM_005256		Approved		uc001mqo.3	O43903	OTTHUMG00000166071	ENST00000454584.2:c.466G>A	chr11.hg19:g.22759307G>A	ENSP00000401145:p.Ala156Thr		B2R9C8|D3DQZ0|Q6ICV8|Q7Z3X8	Missense_Mutation	SNP	ENST00000454584.2	hg19	CCDS7858.1	.	.	.	.	.	.	.	.	.	.	G	34	5.368653	0.95900	.	.	ENSG00000148935	ENST00000528582;ENST00000454584;ENST00000278187;ENST00000532398;ENST00000433790	T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83	5.64	5.64	0.86602	Calponin homology domain (3);	0.051266	0.85682	D	0.000000	T	0.70605	0.3243	M	0.82923	2.615	0.52501	D	0.999956	P	0.52316	0.952	P	0.62885	0.908	T	0.74256	-0.3724	10	0.72032	D	0.01	-13.9779	17.5008	0.87731	0.0:0.0:1.0:0.0	.	156	O43903	GAS2_HUMAN	T	156	ENSP00000432584:A156T;ENSP00000401145:A156T;ENSP00000278187:A156T;ENSP00000435946:A156T;ENSP00000396708:A156T	ENSP00000278187:A156T	A	+	1	0	GAS2	22715883	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.950000	0.75977	2.664000	0.90586	0.650000	0.86243	GCA		0.458	GAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387717.1	NM_177553		A	22759307	G	A	22759307	3	1	677	1	0	0	0	0	1	0	0	0	6247	1319	46	2	480	2	GAS2	11	22759307	Missense_Mutation	SNP	G	TCGA-HE-A5NL-01A-11D-A26P-10	2868810	22759307	112247209	37	37338											
SLC43A3	29015	hgsc.bcm.edu	37	11	57182446	57182446	+	Missense_Mutation	SNP	G	G	C			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr11:57182446G>C	ENST00000395123.2	-	10	1207	c.903C>G	c.(901-903)aaC>aaG	p.N301K	SLC43A3_ENST00000529554.1_Missense_Mutation_p.N301K|SLC43A3_ENST00000352187.1_Missense_Mutation_p.N301K|SLC43A3_ENST00000528098.1_5'Flank|SLC43A3_ENST00000533524.1_Missense_Mutation_p.N314K|SLC43A3_ENST00000395124.1_Missense_Mutation_p.N301K	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	301					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						TCAGCAAGGAGTTGAGAGTGC	0.582																																																0													129	110	117					11																	57182446		2201	4296	6497	SO:0001583	missense	29015			AL157431	CCDS7956.1, CCDS60784.1	11q11	2013-05-22			ENSG00000134802	ENSG00000134802		"Solute carriers"	17466	protein-coding gene	gene with protein product	"likely ortholog of mouse embryonic epithelial gene 1"					7531438, 11704567	Standard	NM_017611		Approved	SEEEG-1, Eeg1, DKFZp762A227, FOAP-13, PRO1659	uc001nki.3	Q8NBI5	OTTHUMG00000167113	ENST00000395123.2:c.903C>G	chr11.hg19:g.57182446G>C	ENSP00000378555:p.Asn301Lys		B4DNR8|E7EQD2|Q9NSS4	Missense_Mutation	SNP	ENST00000395123.2	hg19	CCDS7956.1	.	.	.	.	.	.	.	.	.	.	G	17.62	3.434719	0.62955	.	.	ENSG00000134802	ENST00000395123;ENST00000395124;ENST00000352187;ENST00000529554;ENST00000533524;ENST00000530005	T;T;T;T;T;T	0.58652	0.37;0.37;0.37;0.37;0.37;0.32	5.05	4.13	0.48395	Major facilitator superfamily domain, general substrate transporter (1);	0.094270	0.64402	D	0.000001	T	0.58395	0.2119	M	0.71296	2.17	0.43924	D	0.99657	P;B;B	0.37548	0.599;0.186;0.343	B;B;B	0.44278	0.445;0.158;0.314	T	0.56019	-0.8048	10	0.06625	T	0.88	-17.6813	12.7477	0.57289	0.0:0.1658:0.8342:0.0	.	314;301;301	E7EQD2;Q8NBI5;A8K2X6	.;S43A3_HUMAN;.	K	301;301;301;301;314;301	ENSP00000378555:N301K;ENSP00000378556:N301K;ENSP00000337561:N301K;ENSP00000436254:N301K;ENSP00000434515:N314K;ENSP00000435893:N301K	ENSP00000337561:N301K	N	-	3	2	SLC43A3	56939022	1.000000	0.71417	0.996000	0.52242	0.418000	0.31294	6.596000	0.74113	1.117000	0.41842	0.563000	0.77884	AAC		0.582	SLC43A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393057.1	NM_017611		C	57182446	G	C	57182446	3	2	677	1	0	0	0	0	1	0	0	0	14640	1020	36	4	592	4	SLC43A3	11	57182446	Missense_Mutation	SNP	G	TCGA-HE-A5NL-01A-11D-A26P-10	34423139	57182446	77824070	38	37339											
TUT1	64852	hgsc.bcm.edu	37	11	62343357	62343370	+	Frame_Shift_Del	DEL	GTAAAGGGATCGGC	GTAAAGGGATCGGC	-	rs149885942|rs371469091		TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10	GTAAAGGGATCGGC	GTAAAGGGATCGGC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr11:62343357_62343370delGTAAAGGGATCGGC	ENST00000476907.1	-	9	2512_2525	c.1821_1834delGCCGATCCCTTTAC	c.(1819-1836)acgccgatccctttacccfs	p.PIPLP608fs	EEF1G_ENST00000378019.3_5'Flank|EEF1G_ENST00000532986.1_5'Flank|EEF1G_ENST00000329251.4_5'Flank|MIR3654_ENST00000496634.2_Intron|TUT1_ENST00000308436.7_Frame_Shift_Del_p.PIPLP646fs			Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6 snRNA-specific	608					mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|snRNA processing (GO:0016180)	intercellular bridge (GO:0045171)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)|RNA uridylyltransferase activity (GO:0050265)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GGTGCAAGGGGTAAAGGGATCGGCGTAGCAGAGA	0.636																																																0																																										SO:0001589	frameshift_variant	64852			BC005013	CCDS8021.1, CCDS8021.2	11q12.2	2014-03-05	2006-10-06	2006-10-06	ENSG00000149016	ENSG00000149016	2.7.7.52	"RNA binding motif (RRM) containing"	26184	protein-coding gene	gene with protein product	"RNA uridylyltransferase", "U6 TUTase", "TUTase 6"	610641	"RNA binding motif protein 21"	RBM21		16790842	Standard	NM_022830		Approved	FLJ22347, FLJ22267, FLJ21850, PAPD2, TUTase	uc001nto.2	Q9H6E5	OTTHUMG00000158564	ENST00000476907.1:c.1821_1834delGCCGATCCCTTTAC	chr11.hg19:g.62343357_62343370delGTAAAGGGATCGGC	ENSP00000419607:p.Pro608fs		A1A527|A8K995|Q2NL65|Q7L583|Q9H6H7	Frame_Shift_Del	DEL	ENST00000476907.1	hg19																																																																																					0.636	TUT1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000351319.2	NM_022830		-	62343370	GTAAAGGGATCGGC	-	62343357	7	5	677	1	0	1	0	1	0	0	0	0	16785	1261	44	0	794	0	TUT1	11	62343357	Frame_Shift_Del	DEL	GTAAAGGGATCGGC	TCGA-HE-A5NL-01A-11D-A26P-10	5160911	62343357	72663159	39	37340											
KBTBD3	143879	hgsc.bcm.edu	37	11	105925034	105925034	+	Missense_Mutation	SNP	A	A	T			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr11:105925034A>T	ENST00000526793.1	-	3	541	c.382T>A	c.(382-384)Ttg>Atg	p.L128M	KBTBD3_ENST00000531837.1_Missense_Mutation_p.L128M|KBTBD3_ENST00000534815.1_Missense_Mutation_p.L49M	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	124										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		AATGATGACAACTGGAAGAAC	0.308																																																0													82	88	86					11																	105925034		2201	4298	6499	SO:0001583	missense	143879			AK055247	CCDS8334.1	11q22.3	2013-01-08	2003-12-12	2003-12-17		ENSG00000182359		"BTB/POZ domain containing"	22934	protein-coding gene	gene with protein product			"BTB and kelch domain containing 3"	BKLHD3			Standard	NM_198439		Approved		uc001pjb.3	Q8NAB2		ENST00000526793.1:c.382T>A	chr11.hg19:g.105925034A>T	ENSP00000436262:p.Leu128Met		Q6N066|Q86X38|Q96NK5	Missense_Mutation	SNP	ENST00000526793.1	hg19	CCDS8334.1	.	.	.	.	.	.	.	.	.	.	A	7.067	0.567452	0.13560	.	.	ENSG00000182359	ENST00000534815;ENST00000526793;ENST00000531837	T;T;T	0.72835	-0.69;-0.69;-0.69	5.22	1.55	0.23275	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.271361	0.35936	N	0.002898	T	0.47451	0.1446	N	0.21545	0.675	0.32074	N	0.594092	B;B	0.23377	0.052;0.084	B;B	0.23018	0.043;0.029	T	0.33650	-0.9860	10	0.33940	T	0.23	.	1.1059	0.01693	0.4145:0.1523:0.286:0.1472	.	128;124	A8K1K0;Q8NAB2	.;KBTB3_HUMAN	M	49;128;128	ENSP00000431910:L49M;ENSP00000436262:L128M;ENSP00000432163:L128M	ENSP00000436262:L128M	L	-	1	2	KBTBD3	105430244	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	1.122000	0.31295	0.006000	0.14734	-0.421000	0.06004	TTG		0.308	KBTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388705.2	NM_152433		T	105925034	A	T	105925034	3	4	677	1	0	0	0	0	1	0	0	0	7996	40	2	5	1460	5	KBTBD3	11	105925034	Missense_Mutation	SNP	A	TCGA-HE-A5NL-01A-11D-A26P-10	43581677	105925034	29081482	40	37341											
ESAM	90952	hgsc.bcm.edu	37	11	124623587	124623587	+	Silent	SNP	C	C	T			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr11:124623587C>T	ENST00000278927.5	-	7	1257	c.1128G>A	c.(1126-1128)gtG>gtA	p.V376V	ESAM_ENST00000442070.2_Intron|VSIG2_ENST00000403470.1_5'Flank|VSIG2_ENST00000326621.5_5'Flank	NM_138961.2	NP_620411.2	Q96AP7	ESAM_HUMAN	endothelial cell adhesion molecule	376					blood coagulation (GO:0007596)|homophilic cell adhesion (GO:0007156)|leukocyte migration (GO:0050900)|single organismal cell-cell adhesion (GO:0016337)	adherens junction (GO:0005912)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16	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;0.022)		CCATCACAGGCACAGCACCCA	0.577																																																0													56	58	57					11																	124623587		2201	4299	6500	SO:0001819	synonymous_variant	90952			AK075396	CCDS8453.1	11q24.2	2013-01-29			ENSG00000149564	ENSG00000149564		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17474	protein-coding gene	gene with protein product		614281				11279107, 11906820	Standard	NM_138961		Approved	W117m	uc001qav.4	Q96AP7	OTTHUMG00000151986	ENST00000278927.5:c.1128G>A	chr11.hg19:g.124623587C>T			B4DVN8|Q96T50	Silent	SNP	ENST00000278927.5	hg19	CCDS8453.1																																																																																				0.577	ESAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324686.1	NM_138961		T	124623587	C	T	124623587	2	4	677	1	0	0	0	0	0	0	0	1	5249	697	25	2		2	ESAM	11	124623587	Silent	SNP	C	TCGA-HE-A5NL-01A-11D-A26P-10	18698553	124623587	10382929	41	37342											
NTM	50863	hgsc.bcm.edu	37	11	132180102	132180102	+	Missense_Mutation	SNP	T	T	C			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr11:132180102T>C	ENST00000374786.1	+	5	1237	c.758T>C	c.(757-759)tTc>tCc	p.F253S	NTM_ENST00000425719.2_Missense_Mutation_p.F253S|NTM_ENST00000374784.1_Missense_Mutation_p.F253S|NTM_ENST00000427481.2_Missense_Mutation_p.F244S|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000374791.3_Missense_Mutation_p.F253S|NTM_ENST00000539799.1_Missense_Mutation_p.F253S	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	253	Ig-like C2-type 3.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						TCAGCAGAATTCCAGTGGTAC	0.517																																																0													165	162	163					11																	132180102		2201	4297	6498	SO:0001583	missense	50863			AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"Immunoglobulin superfamily / I-set domain containing"	17941	protein-coding gene	gene with protein product	"neurotrimin", "IgLON family member 2"	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.758T>C	chr11.hg19:g.132180102T>C	ENSP00000363918:p.Phe253Ser		A0MTT2|Q6UXJ3|Q86VJ9	Missense_Mutation	SNP	ENST00000374786.1	hg19	CCDS8491.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	27.9|27.9	4.869133|4.869133	0.91587|0.91587	.|.	.|.	ENSG00000182667|ENSG00000182667	ENST00000374791;ENST00000539799;ENST00000427481;ENST00000374786;ENST00000425719;ENST00000374784|ENST00000457381	T;T;T;T;T;T|.	0.67523|.	-0.27;-0.27;-0.27;-0.27;-0.27;-0.27|.	6.07|6.07	6.07|6.07	0.98685|0.98685	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78886|0.78886	0.4354|0.4354	M|M	0.82323|0.82323	2.585|2.585	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|.	0.91635|.	0.998;0.999;0.996;0.999;0.997;0.997|.	T|T	0.80251|0.80251	-0.1460|-0.1460	10|5	0.13853|.	T|.	0.58|.	-27.0916|-27.0916	16.6288|16.6288	0.85011|0.85011	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	253;244;253;253;253;253|.	B7Z1Z5;B7Z1I4;Q9P121-4;Q9P121;Q9P121-3;Q9P121-2|.	.;.;.;NTRI_HUMAN;.;.|.	S|P	253;253;244;253;253;253|5	ENSP00000363923:F253S;ENSP00000437668:F253S;ENSP00000416320:F244S;ENSP00000363918:F253S;ENSP00000396722:F253S;ENSP00000363916:F253S|.	ENSP00000363916:F253S|.	F|S	+|+	2|1	0|0	NTM|NTM	131685312|131685312	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.864000|5.864000	0.69575|0.69575	2.326000|2.326000	0.78906|0.78906	0.533000|0.533000	0.62120|0.62120	TTC|TCC		0.517	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	NM_016522		C	132180102	T	C	132180102	3	2	677	1	0	0	0	0	1	0	0	0	10701	1783	62	3	862	3	NTM	11	132180102	Missense_Mutation	SNP	T	TCGA-HE-A5NL-01A-11D-A26P-10	7556515	132180102	2826414	42	37343											
EXOSC8	11340	hgsc.bcm.edu	37	13	37583387	37583387	+	Missense_Mutation	SNP	A	A	G			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr13:37583387A>G	ENST00000389704.3	+	11	1047	c.782A>G	c.(781-783)gAa>gGa	p.E261G		NM_181503.2	NP_852480.1	Q96B26	EXOS8_HUMAN	exosome component 8	261					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)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)			biliary_tract(1)|breast(1)|kidney(2)|pancreas(1)|prostate(1)|skin(1)	7		Lung NSC(96;6.57e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.67e-07)|Epithelial(112;1.31e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00699)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0411)		AGACACAAAGAAGTTAAAAAA	0.338																																																0													57	56	56					13																	37583387		2203	4300	6503	SO:0001583	missense	11340			AF025438	CCDS31958.1	13q13.1	2010-05-07			ENSG00000120699	ENSG00000120699	3.1.13.-		17035	protein-coding gene	gene with protein product	"CBP-interacting protein 3", "Opa interacting protein 2"	606019				9466265, 11929972	Standard	NM_181503		Approved	OIP2, RRP43, bA421P11.3, Rrp43p, EAP2, p9, CIP3	uc001uwa.3	Q96B26	OTTHUMG00000016742	ENST00000389704.3:c.782A>G	chr13.hg19:g.37583387A>G	ENSP00000374354:p.Glu261Gly		O43480|Q5TBA5	Missense_Mutation	SNP	ENST00000389704.3	hg19	CCDS31958.1	.	.	.	.	.	.	.	.	.	.	A	19.62	3.862459	0.71949	.	.	ENSG00000120699	ENST00000389704;ENST00000379809;ENST00000481013	T	0.52754	0.65	5.92	5.92	0.95590	Exoribonuclease, phosphorolytic domain 2 (1);	0.000000	0.85682	D	0.000000	T	0.69088	0.3072	M	0.77820	2.39	0.80722	D	1	P;D	0.76494	0.944;0.999	P;D	0.69654	0.56;0.965	T	0.71052	-0.4704	10	0.49607	T	0.09	-29.8227	16.3593	0.83251	1.0:0.0:0.0:0.0	.	233;261	Q5JXM0;Q96B26	.;EXOS8_HUMAN	G	261;233;54	ENSP00000374354:E261G	ENSP00000369137:E233G	E	+	2	0	EXOSC8	36481387	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.372000	0.90127	2.267000	0.75376	0.383000	0.25322	GAA		0.338	EXOSC8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044535.2	NM_181503		G	37583387	A	G	37583387	3	3	677	1	0	0	0	0	1	0	0	0	5322	246	9	3	824	3	EXOSC8	13	37583387	Missense_Mutation	SNP	A	TCGA-HE-A5NL-01A-11D-A26P-10		37583387	77586491	43	37344											
KIAA0564	23078	hgsc.bcm.edu	37	13	42293875	42293875	+	Missense_Mutation	SNP	A	A	G			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr13:42293875A>G	ENST00000379310.3	-	26	3036	c.2968T>C	c.(2968-2970)Ttt>Ctt	p.F990L	VWA8_ENST00000281496.6_Missense_Mutation_p.F990L	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	990						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										TCAGTCGGAAATTTCTGTATT	0.294																																																0													68	64	65					13																	42293875		2203	4300	6503	SO:0001583	missense	23078			AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"KIAA0564"	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.2968T>C	chr13.hg19:g.42293875A>G	ENSP00000368612:p.Phe990Leu		O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	ENST00000379310.3	hg19	CCDS41881.1	.	.	.	.	.	.	.	.	.	.	A	29.6	5.023069	0.93462	.	.	ENSG00000102763	ENST00000251030;ENST00000379310;ENST00000281496	T;T	0.26810	1.71;1.71	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.52240	0.1722	M	0.87456	2.885	0.80722	D	1	D	0.59357	0.985	P	0.57720	0.826	T	0.61133	-0.7124	10	0.62326	D	0.03	.	15.7306	0.77800	1.0:0.0:0.0:0.0	.	990	A3KMH1	K0564_HUMAN	L	894;990;990	ENSP00000368612:F990L;ENSP00000281496:F990L	ENSP00000251030:F894L	F	-	1	0	KIAA0564	41191875	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.248000	0.95456	2.175000	0.68902	0.477000	0.44152	TTT		0.294	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		G	42293875	A	G	42293875	3	3	677	1	0	0	0	0	1	0	0	0	8187	101	4	3	2833	3	KIAA0564	13	42293875	Missense_Mutation	SNP	A	TCGA-HE-A5NL-01A-11D-A26P-10	4710488	42293875	72876003	44	37345											
TIMM9	26520	hgsc.bcm.edu	37	14	58878635	58878635	+	Missense_Mutation	SNP	T	T	C			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr14:58878635T>C	ENST00000395159.2	-	4	554	c.29A>G	c.(28-30)cAg>cGg	p.Q10R	TIMM9_ENST00000556007.2_Missense_Mutation_p.Q10R|TIMM9_ENST00000555404.1_Missense_Mutation_p.Q10R|TIMM9_ENST00000216463.4_Intron|TIMM9_ENST00000555593.1_Missense_Mutation_p.Q10R|RP11-517O13.1_ENST00000556734.1_RNA|TIMM9_ENST00000555061.1_Missense_Mutation_p.Q10R	NM_012460.2	NP_036592.1	Q9Y5J7	TIM9_HUMAN	translocase of inner mitochondrial membrane 9 homolog (yeast)	10					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein transport (GO:0072321)|protein import into mitochondrial inner membrane (GO:0045039)|protein targeting to mitochondrion (GO:0006626)|sensory perception of sound (GO:0007605)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial intermembrane space protein transporter complex (GO:0042719)|mitochondrion (GO:0005739)	chaperone binding (GO:0051087)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			kidney(2)|skin(1)	3						CTGTTTTATCTGATCAGATTC	0.353																																																0													113	110	111					14																	58878635		2203	4300	6503	SO:0001583	missense	26520			AF150100	CCDS9735.1	14q22.3-q24	2008-07-04	2001-11-28		ENSG00000100575	ENSG00000100575			11819	protein-coding gene	gene with protein product		607384	"translocase of inner mitochondrial membrane 9 (yeast) homolog"			10552927, 14726512	Standard	NM_012460		Approved	TIM9A	uc001xds.3	Q9Y5J7	OTTHUMG00000140322	ENST00000395159.2:c.29A>G	chr14.hg19:g.58878635T>C	ENSP00000378588:p.Gln10Arg		B2R584	Missense_Mutation	SNP	ENST00000395159.2	hg19	CCDS9735.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.480758	0.84747	.	.	ENSG00000100575	ENST00000395159;ENST00000555593;ENST00000556007;ENST00000555061;ENST00000555404;ENST00000555097;ENST00000553450	T;T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28;-0.28	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.81302	0.4794	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.84141	0.0417	9	0.87932	D	0	-16.1458	14.6598	0.68861	0.0:0.0:0.0:1.0	.	10	Q9Y5J7	TIM9_HUMAN	R	10	ENSP00000378588:Q10R;ENSP00000451006:Q10R;ENSP00000452091:Q10R;ENSP00000450638:Q10R;ENSP00000451198:Q10R;ENSP00000450624:Q10R	ENSP00000216463:Q10R	Q	-	2	0	TIMM9	57948388	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.606000	0.82863	2.130000	0.65690	0.528000	0.53228	CAG		0.353	TIMM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276936.2			C	58878635	T	C	58878635	3	2	677	1	0	0	0	0	1	0	0	0	15921	1580	55	3	252	3	TIMM9	14	58878635	Missense_Mutation	SNP	T	TCGA-HE-A5NL-01A-11D-A26P-10		58878635	48470905	45	37346											
WDR72	256764	hgsc.bcm.edu	37	15	53815462	53815462	+	Missense_Mutation	SNP	A	A	G			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr15:53815462A>G	ENST00000396328.1	-	19	3445	c.3206T>C	c.(3205-3207)gTg>gCg	p.V1069A	WDR72_ENST00000559418.1_Missense_Mutation_p.V1079A|WDR72_ENST00000557913.1_Missense_Mutation_p.V1066A|WDR72_ENST00000360509.5_Missense_Mutation_p.V1069A|WDR72_ENST00000567224.1_5'UTR	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	1069										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)		CATGTCCTCCACGTCTTGGAA	0.443																																																0													190	181	184					15																	53815462		2194	4293	6487	SO:0001583	missense	256764			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.3206T>C	chr15.hg19:g.53815462A>G	ENSP00000379619:p.Val1069Ala		Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	hg19	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	A	0.124	-1.121308	0.01785	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.33216	1.42;1.42	6.17	1.97	0.26223	.	1.192530	0.05923	N	0.633818	T	0.09949	0.0244	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31308	-0.9948	10	0.10636	T	0.68	.	1.0072	0.01489	0.2223:0.1286:0.3848:0.2643	.	1069	Q3MJ13	WDR72_HUMAN	A	1069	ENSP00000379619:V1069A;ENSP00000353699:V1069A	ENSP00000353699:V1069A	V	-	2	0	WDR72	51602754	0.018000	0.18449	0.000000	0.03702	0.436000	0.31835	0.638000	0.24674	0.137000	0.18759	-0.177000	0.13119	GTG		0.443	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		G	53815462	A	G	53815462	3	3	677	1	0	0	0	0	1	0	0	0	17327	159	6	3	110	3	WDR72	15	53815462	Missense_Mutation	SNP	A	TCGA-HE-A5NL-01A-11D-A26P-10		53815462	48715930	46	37347											
TLN2	83660	hgsc.bcm.edu	37	15	63097959	63097959	+	Missense_Mutation	SNP	T	T	A			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr15:63097959T>A	ENST00000561311.1	+	50	6868	c.6638T>A	c.(6637-6639)gTg>gAg	p.V2213E	TLN2_ENST00000306829.6_Missense_Mutation_p.V2213E			Q9Y4G6	TLN2_HUMAN	talin 2	2213					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						CGGAAAGCCGTGTCAGATATG	0.512																																																0													77	68	71					15																	63097959		2203	4300	6503	SO:0001583	missense	83660			AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.6638T>A	chr15.hg19:g.63097959T>A	ENSP00000453508:p.Val2213Glu		A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	hg19	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	T	32	5.119444	0.94385	.	.	ENSG00000171914	ENST00000306829	T	0.77098	-1.07	5.83	5.83	0.93111	.	0.055071	0.64402	D	0.000001	T	0.79724	0.4495	M	0.62723	1.935	0.80722	D	1	P	0.40398	0.716	B	0.43478	0.421	T	0.82133	-0.0608	10	0.87932	D	0	-21.9765	16.2009	0.82078	0.0:0.0:0.0:1.0	.	2213	Q9Y4G6	TLN2_HUMAN	E	2213	ENSP00000303476:V2213E	ENSP00000303476:V2213E	V	+	2	0	TLN2	60885012	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.997000	0.88414	2.235000	0.73313	0.533000	0.62120	GTG		0.512	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			A	63097959	T	A	63097959	3	1	677	1	0	0	0	0	1	0	0	0	15953	1696	59	5	6828	5	TLN2	15	63097959	Missense_Mutation	SNP	T	TCGA-HE-A5NL-01A-11D-A26P-10	9282497	63097959	39433433	47	37348											
MEGF11	84465	hgsc.bcm.edu	37	15	66190397	66190397	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr15:66190397G>A	ENST00000409699.2	-	23	3182	c.3010C>T	c.(3010-3012)Cat>Tat	p.H1004Y	MEGF11_ENST00000422354.1_Missense_Mutation_p.H1004Y|MEGF11_ENST00000478721.1_5'Flank|MEGF11_ENST00000360698.4_3'UTR|MEGF11_ENST00000395625.2_Missense_Mutation_p.H929Y|MEGF11_ENST00000288745.3_Missense_Mutation_p.H929Y			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	1004					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						CTGGAGTTATGACCGCAACCT	0.463																																																0													124	107	113					15																	66190397		2201	4299	6500	SO:0001583	missense	84465			AB058677	CCDS10213.2	15q22.31	2006-03-31			ENSG00000157890	ENSG00000157890			29635	protein-coding gene	gene with protein product		612454				11347906	Standard	NM_032445		Approved	KIAA1781, DKFZp434L121	uc002apm.2	A6BM72	OTTHUMG00000133175	ENST00000409699.2:c.3010C>T	chr15.hg19:g.66190397G>A	ENSP00000386908:p.His1004Tyr		Q17R86|Q6UXS5|Q8ND91|Q96KG6	Missense_Mutation	SNP	ENST00000409699.2	hg19	CCDS10213.2	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.943794	0.00479	.	.	ENSG00000157890	ENST00000409699;ENST00000288745;ENST00000422354;ENST00000395625	D;D;D;D	0.86694	-2.16;-2.05;-2.16;-2.05	5.03	4.11	0.48088	.	0.766593	0.10702	U	0.643968	T	0.77191	0.4094	N	0.22421	0.69	0.18873	N	0.999982	B;B	0.22746	0.015;0.074	B;B	0.24269	0.008;0.052	T	0.56619	-0.7949	10	0.02654	T	1	.	12.3211	0.54985	0.0833:0.0:0.9167:0.0	.	1004;929	A6BM72;A6BM72-2	MEG11_HUMAN;.	Y	1004;929;1004;929	ENSP00000386908:H1004Y;ENSP00000288745:H929Y;ENSP00000414475:H1004Y;ENSP00000378987:H929Y	ENSP00000288745:H929Y	H	-	1	0	MEGF11	63977451	0.017000	0.18338	0.046000	0.18839	0.418000	0.31294	1.820000	0.39032	1.300000	0.44818	0.655000	0.94253	CAT		0.463	MEGF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329307.2	NM_032445		A	66190397	G	A	66190397	3	1	677	1	0	0	0	0	1	0	0	0	9463	1290	45	2	128	2	MEGF11	15	66190397	Missense_Mutation	SNP	G	TCGA-HE-A5NL-01A-11D-A26P-10	3092438	66190397	36340995	48	37349											
IL21R	50615	hgsc.bcm.edu	37	16	27459983	27459983	+	Silent	SNP	G	G	T			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr16:27459983G>T	ENST00000337929.3	+	9	1469	c.996G>T	c.(994-996)acG>acT	p.T332T	IL21R_ENST00000564089.1_Silent_p.T332T|IL21R_ENST00000395754.4_Silent_p.T332T|IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000564583.1_3'UTR|IL21R_ENST00000395755.1_Silent_p.T332T	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	332					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						TGCAGCTCACGGAGCTACAAG	0.662			T	BCL6	NHL																																		Dom	yes		16	16p11	50615	interleukin 21 receptor		L	0													27	29	28					16																	27459983		2196	4297	6493	SO:0001819	synonymous_variant	50615			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.996G>T	chr16.hg19:g.27459983G>T			A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Silent	SNP	ENST00000337929.3	hg19	CCDS10630.1																																																																																				0.662	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254578.2	NM_181078		T	27459983	G	T	27459983	2	4	677	1	0	0	0	0	0	0	0	1	7673	1103	39	4		4	IL21R	16	27459983	Silent	SNP	G	TCGA-HE-A5NL-01A-11D-A26P-10		27459983	62894770	49	37350											
POLR2C	5432	hgsc.bcm.edu	37	16	57503976	57503976	+	Silent	SNP	G	G	A			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr16:57503976G>A	ENST00000219252.5	+	7	881	c.543G>A	c.(541-543)ggG>ggA	p.G181G	POLR2C_ENST00000564651.1_3'UTR	NM_032940.2	NP_116558.1	P19387	RPB3_HUMAN	polymerase (RNA) II (DNA directed) polypeptide C, 33kDa	181					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						CTACTGCAGGGGTGGCTTTTG	0.537																																																0													67	63	64					16																	57503976		2198	4300	6498	SO:0001819	synonymous_variant	5432				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.543G>A	chr16.hg19:g.57503976G>A			O15161	Silent	SNP	ENST00000219252.5	hg19	CCDS10782.1																																																																																				0.537	POLR2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257340.3	NM_032940		A	57503976	G	A	57503976	2	1	677	1	0	0	0	0	0	0	0	1	12218	1219	43	2		2	POLR2C	16	57503976	Silent	SNP	G	TCGA-HE-A5NL-01A-11D-A26P-10	30043993	57503976	32850777	50	37351											
KLHDC4	54758	hgsc.bcm.edu	37	16	87760467	87760467	+	Silent	SNP	C	C	T	rs548850415		TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr16:87760467C>T	ENST00000270583.5	-	7	721	c.663G>A	c.(661-663)ctG>ctA	p.L221L	KLHDC4_ENST00000566349.1_5'UTR|KLHDC4_ENST00000353170.5_Silent_p.L164L|KLHDC4_ENST00000347925.5_Silent_p.L190L	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	221										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		CTGACGGGGACAGCTTGCTCC	0.557																																																0													91	90	90					16																	87760467		2198	4300	6498	SO:0001819	synonymous_variant	54758			AK001742	CCDS10963.1, CCDS54050.1, CCDS54051.1	16q24	2008-02-05			ENSG00000104731	ENSG00000104731			25272	protein-coding gene	gene with protein product							Standard	NM_001184854		Approved	DKFZp434G0522	uc002fki.3	Q8TBB5	OTTHUMG00000137657	ENST00000270583.5:c.663G>A	chr16.hg19:g.87760467C>T			D3DUN3|D3DUN4|D3DUN5|Q96F29|Q9BVN3	Silent	SNP	ENST00000270583.5	hg19	CCDS10963.1																																																																																				0.557	KLHDC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269109.2	NM_017566		T	87760467	C	T	87760467	2	4	677	1	0	0	0	0	0	0	0	1	8360	465	17	2		2	KLHDC4	16	87760467	Silent	SNP	C	TCGA-HE-A5NL-01A-11D-A26P-10	30256491	87760467	2594286	51	37352											
WDR81	124997	hgsc.bcm.edu	37	17	1630178	1630178	+	Missense_Mutation	SNP	C	C	G			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr17:1630178C>G	ENST00000409644.1	+	1	1925	c.1925C>G	c.(1924-1926)cCc>cGc	p.P642R	RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000437219.2_Intron|WDR81_ENST00000419248.1_Intron|WDR81_ENST00000446363.1_Intron|WDR81_ENST00000309182.5_Intron	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	642					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)		GAGGCCACTCCCTGTGAGGCT	0.587																																																0													7	9	9					17																	1630178		690	1579	2269	SO:0001583	missense	124997			AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"WD repeat domain containing"	26600	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 166"	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.1925C>G	chr17.hg19:g.1630178C>G	ENSP00000386609:p.Pro642Arg		B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Missense_Mutation	SNP	ENST00000409644.1	hg19	CCDS54062.1	.	.	.	.	.	.	.	.	.	.	C	4.713	0.132661	0.09032	.	.	ENSG00000167716	ENST00000409644	T	0.56275	0.47	5.59	4.62	0.57501	.	.	.	.	.	T	0.55433	0.1920	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52646	-0.8548	6	0.33940	T	0.23	.	9.7471	0.40453	0.0:0.8428:0.0:0.1572	.	.	.	.	R	642	ENSP00000386609:P642R	ENSP00000386609:P642R	P	+	2	0	WDR81	1576928	0.940000	0.31905	0.835000	0.33067	0.224000	0.24922	3.300000	0.51834	1.349000	0.45751	0.462000	0.41574	CCC		0.587	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333118.2	NM_152348		G	1630178	C	G	1630178	3	3	677	1	0	0	0	0	1	0	0	0	17335	623	22	4	1989	4	WDR81	17	1630178	Missense_Mutation	SNP	C	TCGA-HE-A5NL-01A-11D-A26P-10		1630178	79565032	52	37353											
NUP88	4927	hgsc.bcm.edu	37	17	5312151	5312152	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr17:5312151_5312152insA	ENST00000573584.1	-	5	1267_1268	c.758_759insT	c.(757-759)ctafs	p.L253fs		NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa	253					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)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	transporter activity (GO:0005215)			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						TTTGTCCAAATAGAGTCTTTGG	0.436																																																0																																										SO:0001589	frameshift_variant	4927			Y08612	CCDS11070.1	17p13	2004-02-18	2002-08-29		ENSG00000108559	ENSG00000108559			8067	protein-coding gene	gene with protein product		602552	"nucleoporin 88kD"			9049309	Standard	NM_002532		Approved	MGC8530	uc002gbo.2	Q99567	OTTHUMG00000099453	ENST00000573584.1:c.759dupT	chr17.hg19:g.5312152_5312152dupA	ENSP00000458954:p.Leu253fs		D3DTM2|Q9BWE5	Frame_Shift_Ins	INS	ENST00000573584.1	hg19	CCDS11070.1																																																																																				0.436	NUP88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216918.3	NM_002532		A	5312152	-	A	5312151	7	5	677	1	0	1	1	0	0	0	0	0	10773	1393	49	0	1518	0	NUP88	17	5312151	Frame_Shift_Ins	INS	-	TCGA-HE-A5NL-01A-11D-A26P-10	3681973	5312151	75883059	53	37354											
C17orf104	284071	hgsc.bcm.edu	37	17	42744034	42744034	+	Missense_Mutation	SNP	C	C	T			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr17:42744034C>T	ENST00000409122.2	+	5	897	c.755C>T	c.(754-756)aCa>aTa	p.T252I	C17orf104_ENST00000409464.1_Missense_Mutation_p.T86I|C17orf104_ENST00000359945.3_Missense_Mutation_p.T252I	NM_001145080.2	NP_001138552.2	A2RUB1	CQ104_HUMAN	chromosome 17 open reading frame 104	252										autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						AATATTCAGACAAATGATACA	0.353																																																0													72	63	66					17																	42744034		2203	4300	6503	SO:0001583	missense	284071				CCDS45703.1, CCDS45703.2	17q21.31	2009-09-08			ENSG00000180336	ENSG00000180336			26670	protein-coding gene	gene with protein product							Standard	NM_001145080		Approved	FLJ35848	uc002iha.3	A2RUB1	OTTHUMG00000153039	ENST00000409122.2:c.755C>T	chr17.hg19:g.42744034C>T	ENSP00000386452:p.Thr252Ile		B4DXJ2|B5MD93|B9EGQ6|C4AM97|Q4G0Y1|Q8IVZ7|Q8NA45	Missense_Mutation	SNP	ENST00000409122.2	hg19	CCDS45703.2	.	.	.	.	.	.	.	.	.	.	C	10.68	1.418212	0.25552	.	.	ENSG00000180336	ENST00000359945;ENST00000409122;ENST00000432494;ENST00000456912;ENST00000409464	T;T;T;T;T	0.35048	1.33;1.33;1.63;1.63;1.34	5.54	4.58	0.56647	.	0.518815	0.20253	N	0.096034	T	0.24547	0.0595	N	0.14661	0.345	0.24157	N	0.995676	B;B;B	0.10296	0.003;0.003;0.003	B;B;B	0.14023	0.01;0.006;0.006	T	0.15350	-1.0440	10	0.39692	T	0.17	-10.3947	14.6777	0.68993	0.0:0.9298:0.0:0.0702	.	252;252;86	A2RUB1-5;A2RUB1;A2RUB1-1	.;CQ104_HUMAN;.	I	252;252;86;86;86	ENSP00000353028:T252I;ENSP00000386452:T252I;ENSP00000399809:T86I;ENSP00000397957:T86I;ENSP00000386586:T86I	ENSP00000353028:T252I	T	+	2	0	C17orf104	40099560	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.331000	0.52075	1.468000	0.48064	0.591000	0.81541	ACA		0.353	C17orf104-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329171.2	NM_001145080		T	42744034	C	T	42744034	3	4	677	1	0	0	0	0	1	0	0	0	1853	478	17	2	773	2	C17orf104	17	42744034	Missense_Mutation	SNP	C	TCGA-HE-A5NL-01A-11D-A26P-10	37431883	42744034	38451176	54	37355											
PPM1E	22843	hgsc.bcm.edu	37	17	56833454	56833454	+	Silent	SNP	G	G	A	rs77856248		TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr17:56833454G>A	ENST00000308249.2	+	1	225	c.96G>A	c.(94-96)gaG>gaA	p.E32E		NM_014906.4	NP_055721.3	Q96MI6	PPM1M_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	0	PP2C-like.				protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|manganese ion binding (GO:0030145)			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			Gcgagccggagccggaacccg	0.667																																																0													14	20	18					17																	56833454		2185	4284	6469	SO:0001819	synonymous_variant	22843			AB028995	CCDS11613.1	17q24.2	2012-04-17	2010-03-05		ENSG00000175175	ENSG00000175175		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	19322	protein-coding gene	gene with protein product	"partner of PIX 1", "nuclear calmodulin-dependent protein kinase phosphatase"		"protein phosphatase 1E (PP2C domain containing)"			11864573, 10470851	Standard	NR_048561		Approved	POPX1, KIAA1072, PP2CH, CaMKP-N	uc002iwx.4	Q8WY54		ENST00000308249.2:c.96G>A	chr17.hg19:g.56833454G>A			Q8N8J9|Q96DB8	Silent	SNP	ENST00000308249.2	hg19	CCDS11613.1																																																																																				0.667	PPM1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445458.1	NM_014906		A	56833454	G	A	56833454	2	1	677	1	0	0	0	0	0	0	0	1	12343	962	34	2		2	PPM1E	17	56833454	Silent	SNP	G	TCGA-HE-A5NL-01A-11D-A26P-10	14089420	56833454	24361756	55	37356	281	2									
PPM1E	22843	hgsc.bcm.edu	37	17	56833457	56833457	+	Silent	SNP	G	G	C	rs3834568|rs201186780|rs74256772	byFrequency	TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr17:56833457G>C	ENST00000308249.2	+	1	228	c.99G>C	c.(97-99)ccG>ccC	p.P33P		NM_014906.4	NP_055721.3	Q96MI6	PPM1M_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	0	PP2C-like.				protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|manganese ion binding (GO:0030145)			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			agccggagccggaacccgaac	0.672																																																0													14	20	18					17																	56833457		2188	4284	6472	SO:0001819	synonymous_variant	22843			AB028995	CCDS11613.1	17q24.2	2012-04-17	2010-03-05		ENSG00000175175	ENSG00000175175		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	19322	protein-coding gene	gene with protein product	"partner of PIX 1", "nuclear calmodulin-dependent protein kinase phosphatase"		"protein phosphatase 1E (PP2C domain containing)"			11864573, 10470851	Standard	NR_048561		Approved	POPX1, KIAA1072, PP2CH, CaMKP-N	uc002iwx.4	Q8WY54		ENST00000308249.2:c.99G>C	chr17.hg19:g.56833457G>C			Q8N8J9|Q96DB8	Silent	SNP	ENST00000308249.2	hg19	CCDS11613.1																																																																																				0.672	PPM1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445458.1	NM_014906		C	56833457	G	C	56833457	2	2	677	1	0	0	0	0	0	0	0	1	12343	1103	39	4		4	PPM1E	17	56833457	Silent	SNP	G	TCGA-HE-A5NL-01A-11D-A26P-10	3	56833457	24361753	56	37357	281	2									
RNF152	220441	hgsc.bcm.edu	37	18	59483369	59483369	+	Missense_Mutation	SNP	G	G	C			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr18:59483369G>C	ENST00000312828.3	-	2	1427	c.328C>G	c.(328-330)Cgt>Ggt	p.R110G		NM_173557.2	NP_775828.1	Q8N8N0	RN152_HUMAN	ring finger protein 152	110					apoptotic process (GO:0006915)|protein K48-linked ubiquitination (GO:0070936)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				AGCAGCGCACGCTCCTTGGAG	0.627																																																0													68	74	72					18																	59483369		2203	4300	6503	SO:0001583	missense	220441			AK096495	CCDS11978.1	18q21.33	2013-01-09			ENSG00000176641	ENSG00000176641		"RING-type (C3HC4) zinc fingers"	26811	protein-coding gene	gene with protein product							Standard	XM_005266650		Approved	FLJ39176	uc002lih.1	Q8N8N0	OTTHUMG00000132774	ENST00000312828.3:c.328C>G	chr18.hg19:g.59483369G>C	ENSP00000316628:p.Arg110Gly		B3KV99|Q52LA4	Missense_Mutation	SNP	ENST00000312828.3	hg19	CCDS11978.1	.	.	.	.	.	.	.	.	.	.	G	5.884	0.347185	0.11126	.	.	ENSG00000176641	ENST00000312828	D	0.83335	-1.71	4.97	4.97	0.65823	.	0.139197	0.44902	D	0.000405	T	0.69424	0.3109	N	0.17082	0.46	0.45621	D	0.998557	B	0.06786	0.001	B	0.06405	0.002	T	0.63501	-0.6623	10	0.18710	T	0.47	-3.5749	13.096	0.59192	0.0:0.0:0.7221:0.2779	.	110	Q8N8N0	RN152_HUMAN	G	110	ENSP00000316628:R110G	ENSP00000316628:R110G	R	-	1	0	RNF152	57634349	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	3.456000	0.53000	2.600000	0.87896	0.655000	0.94253	CGT		0.627	RNF152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256180.1	NM_173557		C	59483369	G	C	59483369	3	2	677	1	0	0	0	0	1	0	0	0	13459	1087	38	4	287	4	RNF152	18	59483369	Missense_Mutation	SNP	G	TCGA-HE-A5NL-01A-11D-A26P-10		59483369	18593879	57	37358											
ATP13A1	57130	hgsc.bcm.edu	37	19	19762514	19762515	+	Frame_Shift_Ins	INS	-	-	TGCAGGA			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr19:19762514_19762515insTGCAGGA	ENST00000357324.6	-	17	2344_2345	c.2318_2319insTCCTGCA	c.(2317-2319)cagfs	p.Q773fs	ATP13A1_ENST00000291503.5_Frame_Shift_Ins_p.Q655fs|ATP13A1_ENST00000496082.1_5'Flank	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	773						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						CGGAGGGAGGCTGCAGGATCAG	0.609																																					Esophageal Squamous(142;920 1789 9047 14684 24777)											0																																										SO:0001589	frameshift_variant	57130			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.2312_2318dupTCCTGCA	chr19.hg19:g.19762515_19762521dupTGCAGGA	ENSP00000349877:p.Gln773fs		B3KPJ2|B3KTA7|Q6NT90|Q6ZMG7|Q9H6C6	Frame_Shift_Ins	INS	ENST00000357324.6	hg19	CCDS32970.2																																																																																				0.609	ATP13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329005.1	NM_020410		TGCAGGA	19762515	-	TGCAGGA	19762514	7	5	677	1	0	1	1	0	0	0	0	0	1123	796	28	0	1335	0	ATP13A1	19	19762514	Frame_Shift_Ins	INS	-	TCGA-HE-A5NL-01A-11D-A26P-10		19762514	39366469	58	37359											
PSG11	5680	hgsc.bcm.edu	37	19	43519496	43519496	+	Missense_Mutation	SNP	G	G	T			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr19:43519496G>T	ENST00000401740.1	-	4	839	c.736C>A	c.(736-738)Cct>Act	p.P246T	PSG11_ENST00000403486.1_Missense_Mutation_p.P124T|PSG11_ENST00000320078.7_Missense_Mutation_p.P246T|PSG11_ENST00000306322.7_Missense_Mutation_p.P124T|PSG11_ENST00000595312.1_5'Flank			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 11	244	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				GTGACTGAAGGGAAAATTCTG	0.468																																																0													112	125	120					19																	43519496		2199	4298	6497	SO:0001583	missense	5680			U25988	CCDS12614.2, CCDS12615.2	19q13.2	2013-01-29			ENSG00000243130	ENSG00000243130		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9516	protein-coding gene	gene with protein product	"pregnancy specific beta-1-glycoprotein 13"	176401		PSG13, PSG14		7794280	Standard	NM_001113410		Approved	MGC22484	uc002ovm.1	Q9UQ72	OTTHUMG00000151546	ENST00000401740.1:c.736C>A	chr19.hg19:g.43519496G>T	ENSP00000384995:p.Pro246Thr		B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	ENST00000401740.1	hg19	CCDS12614.2	.	.	.	.	.	.	.	.	.	.	g	7.213	0.595792	0.13875	.	.	ENSG00000243130	ENST00000320078;ENST00000403486;ENST00000306322;ENST00000401740	T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88	0.961	-0.805	0.10879	Immunoglobulin-like (1);	.	.	.	.	T	0.80154	0.4571	M	0.84683	2.71	0.09310	N	1	B;B	0.28636	0.085;0.218	B;P	0.45037	0.078;0.467	T	0.75110	-0.3433	9	0.87932	D	0	.	4.7032	0.12837	0.2746:0.0:0.7254:0.0	.	124;246	Q9UQ72-2;Q9UQ72	.;PSG11_HUMAN	T	246;124;124;246	ENSP00000319140:P246T;ENSP00000385427:P124T;ENSP00000304913:P124T;ENSP00000384995:P246T	ENSP00000304913:P124T	P	-	1	0	PSG11	48211336	0.001000	0.12720	0.001000	0.08648	0.002000	0.02628	0.167000	0.16602	-1.109000	0.02996	-1.109000	0.02080	CCT		0.468	PSG11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323079.1	NM_002785		T	43519496	G	T	43519496	3	4	677	1	0	0	0	0	1	0	0	0	12659	1232	43	4	279	4	PSG11	19	43519496	Missense_Mutation	SNP	G	TCGA-HE-A5NL-01A-11D-A26P-10	23756982	43519496	15609487	59	37360											
ZNF415	55786	hgsc.bcm.edu	37	19	53612760	53612760	+	Missense_Mutation	SNP	T	T	A			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr19:53612760T>A	ENST00000500065.4	-	4	871	c.538A>T	c.(538-540)Ata>Tta	p.I180L	ZNF415_ENST00000243643.4_Missense_Mutation_p.I180L|ZNF415_ENST00000455735.2_Missense_Mutation_p.I228L|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000601493.1_5'UTR|ZNF415_ENST00000448501.1_Missense_Mutation_p.I228L|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000440291.1_Missense_Mutation_p.I167L|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000421033.1_Missense_Mutation_p.I192L	NM_001136038.2	NP_001129510.2	Q09FC8	ZN415_HUMAN	zinc finger protein 415	228					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		GAAGAAATTATTTGGGGTGGT	0.383																																																0													103	100	101					19																	53612760		2203	4300	6503	SO:0001583	missense	55786			AK002053	CCDS12860.1, CCDS54313.1	19q13.42	2014-03-18			ENSG00000170954	ENSG00000170954		"Zinc fingers, C2H2-type", "-"	20636	protein-coding gene	gene with protein product						14702039	Standard	NM_001136038		Approved		uc002qaw.3	Q09FC8	OTTHUMG00000182865	ENST00000500065.4:c.538A>T	chr19.hg19:g.53612760T>A	ENSP00000439435:p.Ile180Leu		F5H287|Q09FC7|Q09FC9|Q09FD0|Q6NSZ2|Q6P3S0|Q9NUR2	Missense_Mutation	SNP	ENST00000500065.4	hg19	CCDS54313.1	.	.	.	.	.	.	.	.	.	.	T	11.10	1.538587	0.27475	.	.	ENSG00000170954	ENST00000243643;ENST00000500065;ENST00000448501;ENST00000421033;ENST00000455735;ENST00000440291	T;T;T;T;T;T	0.07908	3.15;3.15;3.15;3.15;3.15;3.15	2.74	-0.82	0.10826	.	.	.	.	.	T	0.07007	0.0178	L	0.31578	0.945	0.09310	N	1	B;B;B;B;B;B	0.29085	0.033;0.041;0.038;0.11;0.033;0.232	B;B;B;B;B;B	0.34138	0.015;0.028;0.017;0.033;0.02;0.176	T	0.39440	-0.9614	9	0.59425	D	0.04	.	6.2583	0.20885	0.0:0.3858:0.0:0.6142	.	180;228;228;180;167;192	F5H287;B3KTG1;Q09FC8;Q09FC8-5;Q09FC8-4;Q09FC8-2	.;.;ZN415_HUMAN;.;.;.	L	180;180;228;192;228;167	ENSP00000243643:I180L;ENSP00000439435:I180L;ENSP00000396492:I228L;ENSP00000395055:I192L;ENSP00000388787:I228L;ENSP00000414601:I167L	ENSP00000243643:I180L	I	-	1	0	ZNF415	58304572	0.000000	0.05858	0.000000	0.03702	0.086000	0.17979	-0.921000	0.04008	-0.410000	0.07542	0.260000	0.18958	ATA		0.383	ZNF415-025	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464043.1	NM_018355		A	53612760	T	A	53612760	3	1	677	1	0	0	0	0	1	0	0	0	17897	1493	52	5	1133	5	ZNF415	19	53612760	Missense_Mutation	SNP	T	TCGA-HE-A5NL-01A-11D-A26P-10	10093264	53612760	5516223	60	37361											
SEL1L2	80343	hgsc.bcm.edu	37	20	13868446	13868446	+	Silent	SNP	G	G	T			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr20:13868446G>T	ENST00000284951.5	-	8	788	c.714C>A	c.(712-714)gcC>gcA	p.A238A	SEL1L2_ENST00000378072.5_Silent_p.A238A|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	238						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						AATAACTTAGGGCAACTTCAC	0.299																																																0													129	123	125					20																	13868446		1817	4072	5889	SO:0001819	synonymous_variant	80343			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.714C>A	chr20.hg19:g.13868446G>T			B4DXX5	Silent	SNP	ENST00000284951.5	hg19																																																																																					0.299	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229		T	13868446	G	T	13868446	2	4	677	1	0	0	0	0	0	0	0	1	14017	1219	43	4		4	SEL1L2	20	13868446	Silent	SNP	G	TCGA-HE-A5NL-01A-11D-A26P-10		13868446	49157074	61	37362											
TRPC4AP	26133	hgsc.bcm.edu	37	20	33623074	33623074	+	Silent	SNP	A	A	C			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr20:33623074A>C	ENST00000252015.2	-	8	992	c.903T>G	c.(901-903)ctT>ctG	p.L301L	TRPC4AP_ENST00000432634.2_Silent_p.L262L|TRPC4AP_ENST00000451813.2_Silent_p.L301L|TRPC4AP_ENST00000539834.1_5'UTR			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	301	Interaction with TNFRSF1A. {ECO:0000250}.				calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			CCAGTTTGCAAAGCCGCTCAA	0.507																																																0													87	78	81					20																	33623074		2203	4300	6503	SO:0001819	synonymous_variant	26133			AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991			16181	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 158"	608430	"chromosome 20 open reading frame 188"	C20orf188			Standard	NM_015638		Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319	ENST00000252015.2:c.903T>G	chr20.hg19:g.33623074A>C			E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Silent	SNP	ENST00000252015.2	hg19	CCDS13246.1																																																																																				0.507	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078832.2	NM_015638		C	33623074	A	C	33623074	2	2	677	1	0	0	0	0	0	0	0	1	16586	1	1	5		5	TRPC4AP	20	33623074	Silent	SNP	A	TCGA-HE-A5NL-01A-11D-A26P-10	19754628	33623074	29402446	62	37363			1	63		2	2	26	N	C_A	5.329876e-05
TRPC4AP	26133	hgsc.bcm.edu	37	20	33623099	33623099	+	Missense_Mutation	SNP	C	C	A			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr20:33623099C>A	ENST00000252015.2	-	8	967	c.878G>T	c.(877-879)aGc>aTc	p.S293I	TRPC4AP_ENST00000432634.2_Missense_Mutation_p.S254I|TRPC4AP_ENST00000451813.2_Missense_Mutation_p.S293I|TRPC4AP_ENST00000539834.1_5'Flank			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	293	Interaction with TNFRSF1A. {ECO:0000250}.				calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			GCCAGGAATGCTGAGAAGGGC	0.498																																																0													61	57	58					20																	33623099		2203	4300	6503	SO:0001583	missense	26133			AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991			16181	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 158"	608430	"chromosome 20 open reading frame 188"	C20orf188			Standard	NM_015638		Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319	ENST00000252015.2:c.878G>T	chr20.hg19:g.33623099C>A	ENSP00000252015:p.Ser293Ile		E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Missense_Mutation	SNP	ENST00000252015.2	hg19	CCDS13246.1	.	.	.	.	.	.	.	.	.	.	C	15.76	2.929049	0.52759	.	.	ENSG00000100991	ENST00000252015;ENST00000451813;ENST00000432634;ENST00000541994	T;T;T	0.27720	1.65;1.65;1.65	5.49	4.45	0.53987	.	0.085031	0.85682	D	0.000000	T	0.13329	0.0323	N	0.14661	0.345	0.80722	D	1	B;P;P	0.38335	0.396;0.475;0.627	B;B;B	0.31614	0.044;0.133;0.133	T	0.03524	-1.1028	10	0.54805	T	0.06	.	3.5606	0.07881	0.0:0.6443:0.0:0.3557	.	254;293;293	B4E0Q1;E1P5Q0;Q8TEL6	.;.;TP4AP_HUMAN	I	293;293;254;278	ENSP00000252015:S293I;ENSP00000400614:S293I;ENSP00000400497:S254I	ENSP00000252015:S293I	S	-	2	0	TRPC4AP	33086760	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	3.786000	0.55431	2.587000	0.87381	0.557000	0.71058	AGC		0.498	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078832.2	NM_015638		A	33623099	C	A	33623099	3	1	677	1	0	0	0	0	1	0	0	0	16586	797	28	4	1563	4	TRPC4AP	20	33623099	Missense_Mutation	SNP	C	TCGA-HE-A5NL-01A-11D-A26P-10	25	33623099	29402421	63	37364			1	63		2	2	26	N	C_A	5.329876e-05
PCK1	5105	hgsc.bcm.edu	37	20	56140806	56140806	+	Silent	SNP	C	C	A			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr20:56140806C>A	ENST00000319441.4	+	10	1979	c.1815C>A	c.(1813-1815)ccC>ccA	p.P605P	PCK1_ENST00000543666.1_Silent_p.P288P	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	605					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)			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)			CCGACCTCCCCTGTGAAATCG	0.463																																																0													54	50	51					20																	56140806		2203	4300	6503	SO:0001819	synonymous_variant	5105				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.1815C>A	chr20.hg19:g.56140806C>A			A8K437|B4DT64|Q8TCA3|Q9UJD2	Silent	SNP	ENST00000319441.4	hg19	CCDS13460.1																																																																																				0.463	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079851.2			A	56140806	C	A	56140806	2	1	677	1	0	0	0	0	0	0	0	1	11583	668	24	4		4	PCK1	20	56140806	Silent	SNP	C	TCGA-HE-A5NL-01A-11D-A26P-10	22517707	56140806	6884714	64	37365											
ZGPAT	84619	hgsc.bcm.edu	37	20	62366740	62366740	+	Silent	SNP	T	T	A			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr20:62366740T>A	ENST00000328969.5	+	6	1408	c.1281T>A	c.(1279-1281)ccT>ccA	p.P427P	ZGPAT_ENST00000355969.6_Silent_p.P407P|ZGPAT_ENST00000369967.3_Silent_p.P407P|ZGPAT_ENST00000448100.2_Silent_p.P407P|RP4-583P15.15_ENST00000490623.2_Missense_Mutation_p.L313Q|ZGPAT_ENST00000357119.4_Silent_p.P398P|LIME1_ENST00000309546.3_5'Flank|RP4-583P15.14_ENST00000467211.1_5'Flank	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	427					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)					GTCAGGCTCCTGGGGCCCTAG	0.672																																																0													20	23	22					20																	62366740		2183	4294	6477	SO:0001819	synonymous_variant	84619			AK027878	CCDS13534.1, CCDS13535.1, CCDS56203.1	20q13.3	2013-01-28	2004-12-01	2004-12-01	ENSG00000197114	ENSG00000197114		"Zinc fingers, CCCH-type domain containing", "G patch domain containing"	15948	protein-coding gene	gene with protein product			"KIAA1847"	KIAA1847		16952911	Standard	NM_181485		Approved	dJ583P15.3, MGC44880, FLJ14972, ZC3HDC9, ZC3H9, GPATC6, GPATCH6, ZIP	uc002ygk.3	Q8N5A5	OTTHUMG00000032998	ENST00000328969.5:c.1281T>A	chr20.hg19:g.62366740T>A			E1P5K1|Q4VXN9|Q5JWI9|Q5JWJ0|Q8NC55|Q8WUV4|Q96JI0|Q96JU4|Q9H401	Silent	SNP	ENST00000328969.5	hg19	CCDS13534.1																																																																																				0.672	ZGPAT-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080214.1	NM_181484		A	62366740	T	A	62366740	2	1	677	1	0	0	0	0	0	0	0	1	17679	1567	55	5		5	ZGPAT	20	62366740	Silent	SNP	T	TCGA-HE-A5NL-01A-11D-A26P-10	6225934	62366740	658780	65	37366											
NEFH	4744	hgsc.bcm.edu	37	22	29885400	29885417	+	In_Frame_Del	DEL	GAGGCAAAGTCACCGGCT	GAGGCAAAGTCACCGGCT	-	rs6006165|rs1061372	byFrequency	TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10	GAGGCAAAGTCACCGGCT	GAGGCAAAGTCACCGGCT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr22:29885400_29885417delGAGGCAAAGTCACCGGCT	ENST00000310624.6	+	4	1804_1821	c.1771_1788delGAGGCAAAGTCACCGGCT	c.(1771-1788)gaggcaaagtcaccggctdel	p.EAKSPA591del		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	591	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AGCAAAGGAAGAGGCAAAGTCACCGGCTGAGGCCAAGT	0.569																																																0																																										SO:0001651	inframe_deletion	4744				CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"Intermediate filaments type IV"	7737	protein-coding gene	gene with protein product		162230	"neurofilament, heavy polypeptide 200kDa"				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.1771_1788delGAGGCAAAGTCACCGGCT	chr22.hg19:g.29885400_29885417delGAGGCAAAGTCACCGGCT	ENSP00000311997:p.Glu591_Ala596del		B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	In_Frame_Del	DEL	ENST00000310624.6	hg19	CCDS13858.1																																																																																				0.569	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		-	29885417	GAGGCAAAGTCACCGGCT	-	29885400	7	5	677	1	0	1	0	1	0	0	0	0	10316	943	33	0	1785	0	NEFH	22	29885400	In_Frame_Del	DEL	GAGGCAAAGTCACCGGCT	TCGA-HE-A5NL-01A-11D-A26P-10		29885400	21419166	66	37367											
LGALS2	3957	hgsc.bcm.edu	37	22	37966307	37966307	+	Missense_Mutation	SNP	C	C	T			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr22:37966307C>T	ENST00000215886.4	-	4	536	c.362G>A	c.(361-363)gGc>gAc	p.G121D		NM_006498.2	NP_006489.1	P05162	LEG2_HUMAN	lectin, galactoside-binding, soluble, 2	121	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.						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)					GTTGAACCCGCCCCTTACGCT	0.498																																					GBM(193;1840 2185 13711 20676 24505)											0													90	94	93					22																	37966307		2203	4300	6503	SO:0001583	missense	3957				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.362G>A	chr22.hg19:g.37966307C>T	ENSP00000215886:p.Gly121Asp		Q6FGY4	Missense_Mutation	SNP	ENST00000215886.4	hg19	CCDS13950.1	.	.	.	.	.	.	.	.	.	.	C	15.41	2.824838	0.50739	.	.	ENSG00000100079	ENST00000215886	T	0.68181	-0.31	5.65	1.17	0.20885	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.292084	0.42821	D	0.000648	T	0.64983	0.2648	M	0.82056	2.57	0.09310	N	0.999994	B	0.30870	0.298	B	0.30943	0.122	T	0.59958	-0.7356	10	0.62326	D	0.03	0.0582	10.2071	0.43120	0.0:0.7317:0.0:0.2683	.	121	P05162	LEG2_HUMAN	D	121	ENSP00000215886:G121D	ENSP00000215886:G121D	G	-	2	0	LGALS2	36296253	0.010000	0.17322	0.000000	0.03702	0.000000	0.00434	1.026000	0.30103	0.056000	0.16144	-0.291000	0.09656	GGC		0.498	LGALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318991.1	NM_006498		T	37966307	C	T	37966307	3	4	677	1	0	0	0	0	1	0	0	0	8744	739	26	2	40	2	LGALS2	22	37966307	Missense_Mutation	SNP	C	TCGA-HE-A5NL-01A-11D-A26P-10	8080907	37966307	13338259	67	37368											
PNPLA3	80339	hgsc.bcm.edu	37	22	44333050	44333050	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr22:44333050G>A	ENST00000216180.3	+	6	1050	c.877G>A	c.(877-879)Gct>Act	p.A293T	PNPLA3_ENST00000423180.2_Missense_Mutation_p.A289T	NM_025225.2	NP_079501.2	Q9NST1	PLPL3_HUMAN	patatin-like phospholipase domain containing 3	293					acylglycerol acyl-chain remodeling (GO:0036155)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	diolein transacylation activity (GO:0051265)|mono-olein transacylation activity (GO:0051264)|phospholipase A2 activity (GO:0004623)|triglyceride lipase activity (GO:0004806)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|prostate(1)|skin(1)|stomach(2)	19		Ovarian(80;0.024)|all_neural(38;0.0416)				GGCTGCCTTGGCTGTGAGGCT	0.617																																																0													105	84	91					22																	44333050		2203	4300	6503	SO:0001583	missense	80339				CCDS14054.1	22q13.31	2014-03-14	2006-05-26	2006-05-26	ENSG00000100344	ENSG00000100344	3.1.1.3	"Patatin-like phospholipase domain containing"	18590	protein-coding gene	gene with protein product		609567	"chromosome 22 open reading frame 20", "adiponutrin"	C22orf20, ADPN		16799181, 19029121	Standard	NM_025225		Approved	dJ796I17.1, FLJ22012, adiponutrin, iPLA2epsilon	uc003bei.1	Q9NST1	OTTHUMG00000150555	ENST00000216180.3:c.877G>A	chr22.hg19:g.44333050G>A	ENSP00000216180:p.Ala293Thr		B0QYI0|B2RCL3|B3KW00|Q6P1A1|Q96CB4	Missense_Mutation	SNP	ENST00000216180.3	hg19	CCDS14054.1	.	.	.	.	.	.	.	.	.	.	G	8.597	0.885868	0.17540	.	.	ENSG00000100344	ENST00000216180;ENST00000423180	T;T	0.28895	1.59;1.59	3.7	-1.2	0.09554	.	.	.	.	.	T	0.13670	0.0331	N	0.22421	0.69	0.09310	N	1	B	0.30326	0.276	B	0.25614	0.062	T	0.25363	-1.0134	9	0.18276	T	0.48	-0.1582	1.9895	0.03443	0.1065:0.1711:0.3719:0.3504	.	293	Q9NST1	PLPL3_HUMAN	T	293;289	ENSP00000216180:A293T;ENSP00000397987:A289T	ENSP00000216180:A293T	A	+	1	0	PNPLA3	42664383	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.317000	0.08060	-0.232000	0.09811	0.462000	0.41574	GCT		0.617	PNPLA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318891.1	NM_025225		A	44333050	G	A	44333050	3	1	677	1	0	0	0	0	1	0	0	0	12168	1203	42	2	899	2	PNPLA3	22	44333050	Missense_Mutation	SNP	G	TCGA-HE-A5NL-01A-11D-A26P-10	6366743	44333050	6971516	68	37369											
BAI2	576	hgsc.bcm.edu	37	1	32205741	32205741	+	Missense_Mutation	SNP	T	T	G			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr1:32205741T>G	ENST00000373658.3	-	13	2369	c.2028A>C	c.(2026-2028)gaA>gaC	p.E676D	BAI2_ENST00000398556.3_Missense_Mutation_p.E624D|BAI2_ENST00000527361.1_Missense_Mutation_p.E676D|BAI2_ENST00000257070.4_Missense_Mutation_p.E676D|BAI2_ENST00000398542.1_Missense_Mutation_p.E609D|BAI2_ENST00000398538.1_Missense_Mutation_p.E664D|BAI2_ENST00000373655.2_Missense_Mutation_p.E676D|BAI2_ENST00000398547.1_Missense_Mutation_p.E609D|BAI2_ENST00000440175.2_Missense_Mutation_p.E318D	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	676					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		TCTCCTTGTTTTCCGCATCCA	0.612																																																0													125	110	115					1																	32205741		2203	4300	6503	SO:0001583	missense	576			AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"-", "GPCR / Class B : Orphans"	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.2028A>C	chr1.hg19:g.32205741T>G	ENSP00000362762:p.Glu676Asp		B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	ENST00000373658.3	hg19	CCDS346.2	.	.	.	.	.	.	.	.	.	.	T	18.09	3.546810	0.65198	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000440175;ENST00000398538;ENST00000420125	T;T;T;T;T;T;T;T;T;T	0.10288	2.89;2.89;2.89;2.89;2.89;2.89;2.89;2.89;2.89;2.89	4.62	1.63	0.23807	Domain of unknown function DUF3497 (1);	0.192067	0.26106	N	0.026319	T	0.16385	0.0394	L	0.54323	1.7	0.32584	N	0.528032	P;D;B;P;P;P	0.52996	0.804;0.957;0.307;0.815;0.804;0.815	P;P;P;P;P;P	0.53313	0.526;0.723;0.534;0.631;0.526;0.631	T	0.12268	-1.0554	10	0.46703	T	0.11	.	7.784	0.29080	0.0:0.6153:0.0:0.3847	.	676;664;318;609;676;676	O60241-4;O60241-3;B4DKC3;A2A3C1;O60241-2;O60241	.;.;.;.;.;BAI2_HUMAN	D	624;609;676;676;609;676;676;318;664;614	ENSP00000381564:E624D;ENSP00000381555:E609D;ENSP00000362762:E676D;ENSP00000362759:E676D;ENSP00000381550:E609D;ENSP00000257070:E676D;ENSP00000435397:E676D;ENSP00000391071:E318D;ENSP00000381548:E664D;ENSP00000410921:E614D	ENSP00000257070:E676D	E	-	3	2	BAI2	31978328	1.000000	0.71417	0.975000	0.42487	0.765000	0.43378	0.796000	0.26986	0.124000	0.18369	-0.474000	0.04947	GAA		0.612	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703		G	32205741	T	G	32205741	3	3	678	1	0	0	0	0	1	0	0	0	1299	1838	64	5	2813	5	BAI2	1	32205741	Missense_Mutation	SNP	T	TCGA-IA-A40U-01A-11D-A25F-10		32205741	217044880	1	37370											
PMF1	632	hgsc.bcm.edu	37	1	156209392	156209392	+	5'Flank	SNP	A	A	C			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr1:156209392A>C	ENST00000368272.4	+	0	0				PMF1_ENST00000368273.4_Nonstop_Mutation_p.*208C|PMF1_ENST00000368277.3_Nonstop_Mutation_p.*206C|PMF1-BGLAP_ENST00000320139.5_Intron|PMF1_ENST00000565805.1_Intron|PMF1-BGLAP_ENST00000490491.1_Intron|PMF1_ENST00000567140.1_Intron|PMF1-BGLAP_ENST00000368276.4_Intron|PMF1_ENST00000368279.3_3'UTR	NM_199173.4	NP_954642.1	P02818	OSTCN_HUMAN	bone gamma-carboxyglutamate (gla) protein						bone development (GO:0060348)|bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|cell aging (GO:0007569)|cellular response to growth factor stimulus (GO:0071363)|cellular response to vitamin D (GO:0071305)|odontogenesis (GO:0042476)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|regulation of bone mineralization (GO:0030500)|regulation of bone resorption (GO:0045124)|regulation of osteoclast differentiation (GO:0045670)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to gravity (GO:0009629)|response to hydroxyisoflavone (GO:0033594)|response to mechanical stimulus (GO:0009612)|response to testosterone (GO:0033574)|response to vitamin D (GO:0033280)|response to vitamin K (GO:0032571)|response to zinc ion (GO:0010043)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|perikaryon (GO:0043204)|rough endoplasmic reticulum (GO:0005791)	calcium ion binding (GO:0005509)|hydroxyapatite binding (GO:0046848)|structural constituent of bone (GO:0008147)|structural molecule activity (GO:0005198)			large_intestine(3)|lung(1)|urinary_tract(1)	5	Hepatocellular(266;0.158)				Gallium nitrate(DB05260)|Menadione(DB00170)|Phylloquinone(DB01022)	AGCCTGAGTGAGGAGACCGCC	0.572																																																0													81	85	84					1																	156209392		2203	4300	6503	SO:0001631	upstream_gene_variant	11243			X04143	CCDS1134.1	1q22	2014-05-13	2008-08-01		ENSG00000242252	ENSG00000242252			1043	protein-coding gene	gene with protein product	"osteocalcin"	112260				2785029, 2394711	Standard	NM_199173		Approved	OCN	uc001fnt.3	P02818	OTTHUMG00000014819		chr1.hg19:g.156209392A>C	Exception_encountered		Q5TCK6	Missense_Mutation	SNP	ENST00000368272.4	hg19	CCDS1134.1	.	.	.	.	.	.	.	.	.	.	a	16.96	3.267332	0.59540	.	.	ENSG00000160783	ENST00000368273;ENST00000368277	.	.	.	5.07	3.95	0.45737	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.4393	0.27174	0.9034:0.0:0.0966:0.0	.	.	.	.	C	208;206	.	.	X	+	3	0	PMF1	154476016	0.998000	0.40836	0.883000	0.34634	0.969000	0.65631	2.898000	0.48672	1.073000	0.40885	0.529000	0.55759	TGA		0.572	BGLAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040867.2	NM_199173		C	156209392	A	C	156209392	1	2	678	0	1	0	0	0	0	0	0	0	12135	317	11	5		5	PMF1	1	156209392	5'Flank	SNP	A	TCGA-IA-A40U-01A-11D-A25F-10	124003651	156209392	93041229	2	37371											
OR2T3	343173	hgsc.bcm.edu	37	1	248637175	248637175	+	Missense_Mutation	SNP	A	A	C			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr1:248637175A>C	ENST00000359594.2	+	1	549	c.524A>C	c.(523-525)cAg>cCg	p.Q175P		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	175						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)			CCCTTTTGCCAGTCTAGGAAA	0.527																																																0													42	39	40					1																	248637175		2162	4256	6418	SO:0001583	missense	343173				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.524A>C	chr1.hg19:g.248637175A>C	ENSP00000352604:p.Gln175Pro		B2RNJ1	Missense_Mutation	SNP	ENST00000359594.2	hg19	CCDS31117.1	.	.	.	.	.	.	.	.	.	.	a	10.12	1.262159	0.23051	.	.	ENSG00000196539	ENST00000359594	T	0.37235	1.21	2.37	-2.34	0.06704	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.27629	0.0679	N	0.20807	0.61	0.09310	N	1	B	0.29909	0.261	B	0.40602	0.334	T	0.45396	-0.9264	9	0.66056	D	0.02	.	8.3181	0.32113	0.2131:0.0:0.7869:0.0	.	175	Q8NH03	OR2T3_HUMAN	P	175	ENSP00000352604:Q175P	ENSP00000352604:Q175P	Q	+	2	0	OR2T3	246703798	0.000000	0.05858	0.000000	0.03702	0.062000	0.15995	-0.077000	0.11394	-1.019000	0.03358	0.156000	0.16432	CAG		0.527	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097348.1	NM_001005495		C	248637175	A	C	248637175	3	2	678	1	0	0	0	0	1	0	0	0	11025	188	7	5	526	5	OR2T3	1	248637175	Missense_Mutation	SNP	A	TCGA-IA-A40U-01A-11D-A25F-10	92427783	248637175	613446	3	37372											
ERBB4	2066	hgsc.bcm.edu	37	2	212248449	212248449	+	Missense_Mutation	SNP	C	C	T			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr2:212248449C>T	ENST00000342788.4	-	28	4128	c.3818G>A	c.(3817-3819)cGg>cAg	p.R1273Q	ERBB4_ENST00000436443.1_Missense_Mutation_p.R1257Q|ERBB4_ENST00000402597.1_Missense_Mutation_p.R1263Q	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1273					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)	AGGCCGGATCCGCCCATTCTG	0.532										TSP Lung(8;0.080)																																						0													89	91	91					2																	212248449		2203	4300	6503	SO:0001583	missense	2066			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.3818G>A	chr2.hg19:g.212248449C>T	ENSP00000342235:p.Arg1273Gln		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	hg19	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	C	17.20	3.328293	0.60743	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	T;T;T	0.75367	-0.92;-0.93;-0.92	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000001	T	0.72518	0.3470	L	0.44542	1.39	0.52501	D	0.999958	P;P;P;P	0.50710	0.938;0.873;0.938;0.897	P;P;P;B	0.44860	0.462;0.462;0.462;0.273	T	0.73151	-0.4073	10	0.42905	T	0.14	.	19.39	0.94576	0.0:1.0:0.0:0.0	.	1247;1263;1257;1273	Q15303-4;Q15303-2;Q15303-3;Q15303	.;.;.;ERBB4_HUMAN	Q	1273;1257;1263	ENSP00000342235:R1273Q;ENSP00000403204:R1257Q;ENSP00000385565:R1263Q	ENSP00000342235:R1273Q	R	-	2	0	ERBB4	211956694	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.584000	0.67490	2.812000	0.96745	0.557000	0.71058	CGG		0.532	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		T	212248449	C	T	212248449	3	4	678	1	0	0	0	0	1	0	0	0	5211	652	23	1	112	1	ERBB4	2	212248449	Missense_Mutation	SNP	C	TCGA-IA-A40U-01A-11D-A25F-10		212248449	30950924	4	37373											
CCDC66	285331	hgsc.bcm.edu	37	3	56627039	56627039	+	Missense_Mutation	SNP	A	A	C			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr3:56627039A>C	ENST00000394672.3	+	8	1048	c.978A>C	c.(976-978)caA>caC	p.Q326H	CCDC66_ENST00000436465.2_Missense_Mutation_p.Q326H|CCDC66_ENST00000326595.7_Missense_Mutation_p.Q292H	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	326					post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|retinal rod cell development (GO:0046548)					breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		CTGTGAAACAAGAACTGCAAA	0.333																																																0													100	108	106					3																	56627039		2203	4300	6503	SO:0001583	missense	285331			AL832692	CCDS33770.2, CCDS46852.1	3p14.3	2006-03-27			ENSG00000180376	ENSG00000180376			27709	protein-coding gene	gene with protein product						14702039	Standard	NR_024460		Approved	DKFZp686C0433	uc003dhz.3	A2RUB6	OTTHUMG00000155748	ENST00000394672.3:c.978A>C	chr3.hg19:g.56627039A>C	ENSP00000378167:p.Gln326His		B3KWL8|Q4VC34|Q8N949	Missense_Mutation	SNP	ENST00000394672.3	hg19	CCDS46852.1	.	.	.	.	.	.	.	.	.	.	A	17.71	3.456082	0.63401	.	.	ENSG00000180376	ENST00000394672;ENST00000326595;ENST00000436465	T;T;T	0.23950	1.88;1.88;1.88	5.6	0.516	0.17019	.	0.359209	0.26542	N	0.023798	T	0.19005	0.0456	L	0.55103	1.725	0.80722	D	1	B	0.17038	0.02	B	0.19391	0.025	T	0.06661	-1.0814	10	0.38643	T	0.18	-3.3314	2.9391	0.05824	0.4431:0.0:0.258:0.2989	.	326	A2RUB6	CCD66_HUMAN	H	326;292;326	ENSP00000378167:Q326H;ENSP00000326050:Q292H;ENSP00000404320:Q326H	ENSP00000326050:Q292H	Q	+	3	2	CCDC66	56602079	0.989000	0.36119	0.920000	0.36463	0.969000	0.65631	0.062000	0.14389	-0.134000	0.11516	0.533000	0.62120	CAA		0.333	CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341473.1	NM_001012506		C	56627039	A	C	56627039	3	2	678	1	0	0	0	0	1	0	0	0	2840	69	3	5	1008	5	CCDC66	3	56627039	Missense_Mutation	SNP	A	TCGA-IA-A40U-01A-11D-A25F-10		56627039	141395391	5	37374											
TRIM42	287015	hgsc.bcm.edu	37	3	140401754	140401754	+	Silent	SNP	G	G	A			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr3:140401754G>A	ENST00000286349.3	+	2	983	c.792G>A	c.(790-792)aaG>aaA	p.K264K		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	264						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						ACTGCCTCAAGGCCTTCCACT	0.617																																																0													115	102	106					3																	140401754		2203	4300	6503	SO:0001819	synonymous_variant	287015			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.792G>A	chr3.hg19:g.140401754G>A			A1L4B4|Q8N832|Q8NDL3	Silent	SNP	ENST00000286349.3	hg19	CCDS3113.1																																																																																				0.617	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616		A	140401754	G	A	140401754	2	1	678	1	0	0	0	0	0	0	0	1	16522	991	35	2		2	TRIM42	3	140401754	Silent	SNP	G	TCGA-IA-A40U-01A-11D-A25F-10	83774715	140401754	57620676	6	37375											
PRKCI	5584	hgsc.bcm.edu	37	3	170013708	170013708	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr3:170013708delA	ENST00000295797.4	+	15	1732	c.1427delA	c.(1426-1428)gaafs	p.E476fs		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	476	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament organization (GO:0007015)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell junction organization (GO:0045216)|cellular response to insulin stimulus (GO:0032869)|cytoskeleton organization (GO:0007010)|establishment of apical/basal cell polarity (GO:0035089)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|eye photoreceptor cell development (GO:0042462)|Golgi vesicle budding (GO:0048194)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of glucose import (GO:0046326)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|protein targeting to membrane (GO:0006612)|response to interleukin-1 (GO:0070555)|secretion (GO:0046903)|tight junction assembly (GO:0070830)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)	ATP binding (GO:0005524)|phospholipid binding (GO:0005543)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		Tamoxifen(DB00675)	GTTATTTTGGAAAAACAAATT	0.289																																																0													51	55	54					3																	170013708		2202	4298	6500	SO:0001589	frameshift_variant	5584				CCDS3212.2	3q26.3	2008-07-18			ENSG00000163558	ENSG00000163558	2.7.11.13		9404	protein-coding gene	gene with protein product		600539		DXS1179E		7607695, 11978974	Standard	NM_002740		Approved	PKCI	uc003fgs.2	P41743	OTTHUMG00000150214	ENST00000295797.4:c.1427delA	chr3.hg19:g.170013708delA	ENSP00000295797:p.Glu476fs		D3DNQ4|Q8WW06	Frame_Shift_Del	DEL	ENST00000295797.4	hg19	CCDS3212.2																																																																																				0.289	PRKCI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316866.3	NM_002740		-	170013708	A	-	170013708	7	5	678	1	0	1	0	1	0	0	0	0	12519	246	9	0	1485	0	PRKCI	3	170013708	Frame_Shift_Del	DEL	A	TCGA-IA-A40U-01A-11D-A25F-10	29611954	170013708	28008722	7	37376											
CDKL2	8999	hgsc.bcm.edu	37	4	76532433	76532433	+	Missense_Mutation	SNP	G	G	A			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr4:76532433G>A	ENST00000429927.2	-	4	1179	c.476C>T	c.(475-477)aCt>aTt	p.T159I	CDKL2_ENST00000307465.4_Missense_Mutation_p.T159I	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	159	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				sex differentiation (GO:0007548)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			CACATAATCAGTATAAACCTC	0.443																																																0													90	86	87					4																	76532433		2203	4300	6503	SO:0001583	missense	8999			U35146	CCDS3570.1	4q21.21	2011-11-04			ENSG00000138769	ENSG00000138769		"Cyclin-dependent kinases"	1782	protein-coding gene	gene with protein product		603442				9000130	Standard	NM_003948		Approved	P56, KKIAMRE	uc003hiq.3	Q92772	OTTHUMG00000130103	ENST00000429927.2:c.476C>T	chr4.hg19:g.76532433G>A	ENSP00000412365:p.Thr159Ile		B2R695	Missense_Mutation	SNP	ENST00000429927.2	hg19	CCDS3570.1	.	.	.	.	.	.	.	.	.	.	g	23.8	4.454370	0.84209	.	.	ENSG00000138769	ENST00000429927;ENST00000307465	T;T	0.68025	-0.3;-0.3	4.72	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);	.	.	.	.	T	0.81945	0.4930	M	0.78344	2.41	0.50813	D	0.999894	D;D	0.89917	1.0;1.0	D;D	0.81914	0.988;0.995	D	0.84486	0.0608	9	0.87932	D	0	-11.7169	16.9749	0.86310	0.0:0.0:1.0:0.0	.	159;159	B4DH08;Q92772	.;CDKL2_HUMAN	I	159	ENSP00000412365:T159I;ENSP00000306340:T159I	ENSP00000306340:T159I	T	-	2	0	CDKL2	76751457	1.000000	0.71417	0.946000	0.38457	0.908000	0.53690	8.407000	0.90218	2.605000	0.88082	0.639000	0.83563	ACT		0.443	CDKL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252409.2	NM_003948		A	76532433	G	A	76532433	3	1	678	1	0	0	0	0	1	0	0	0	3156	1029	36	2	1037	2	CDKL2	4	76532433	Missense_Mutation	SNP	G	TCGA-IA-A40U-01A-11D-A25F-10		76532433	114621843	8	37377											
SYNPO2	171024	hgsc.bcm.edu	37	4	119947961	119947961	+	Missense_Mutation	SNP	A	A	C	rs70944826	byFrequency	TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr4:119947961A>C	ENST00000429713.2	+	3	619	c.437A>C	c.(436-438)cAa>cCa	p.Q146P	SYNPO2_ENST00000434046.2_Missense_Mutation_p.Q146P|SYNPO2_ENST00000307142.4_Missense_Mutation_p.Q146P|SYNPO2_ENST00000448416.2_Intron	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	146						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						GCTGAGAACCAAAGAAGTGGT	0.557																																																0													43	45	44					4																	119947961		2203	4300	6503	SO:0001583	missense	171024			AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.437A>C	chr4.hg19:g.119947961A>C	ENSP00000395143:p.Gln146Pro		B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Missense_Mutation	SNP	ENST00000429713.2	hg19	CCDS47129.1	.	.	.	.	.	.	.	.	.	.	A	8.210	0.800113	0.16397	.	.	ENSG00000172403	ENST00000307142;ENST00000429713;ENST00000434046	T;T;T	0.08896	3.04;3.04;3.04	5.51	2.93	0.34026	.	0.395951	0.21221	N	0.078143	T	0.07999	0.0200	M	0.62723	1.935	0.09310	N	1	B;P;B;B	0.34757	0.165;0.467;0.165;0.165	B;B;B;B	0.28139	0.043;0.086;0.069;0.043	T	0.28459	-1.0043	10	0.59425	D	0.04	-2.8964	4.6069	0.12382	0.561:0.1597:0.2792:0.0	.	146;146;146;146	B9EG60;Q9UMS6-2;E9PEM2;Q9UMS6	.;.;.;SYNP2_HUMAN	P	146	ENSP00000306015:Q146P;ENSP00000395143:Q146P;ENSP00000390965:Q146P	ENSP00000306015:Q146P	Q	+	2	0	SYNPO2	120167409	0.019000	0.18553	0.400000	0.26346	0.322000	0.28314	1.517000	0.35867	0.792000	0.33850	0.455000	0.32223	CAA		0.557	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364020.1			C	119947961	A	C	119947961	3	2	678	1	0	0	0	0	1	0	0	0	15462	130	5	5	447	5	SYNPO2	4	119947961	Missense_Mutation	SNP	A	TCGA-IA-A40U-01A-11D-A25F-10	43415528	119947961	71206315	9	37378	282	2									
SYNPO2	171024	hgsc.bcm.edu	37	4	119947965	119947967	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10	AAG	AAG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr4:119947965_119947967delAAG	ENST00000429713.2	+	3	623_625	c.441_443delAAG	c.(439-444)agaagt>agt	p.R147del	SYNPO2_ENST00000434046.2_In_Frame_Del_p.R147del|SYNPO2_ENST00000307142.4_In_Frame_Del_p.R147del|SYNPO2_ENST00000448416.2_Intron	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	147				Missing (in Ref. 3; AL832031). {ECO:0000305}.		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						AGAACCAAAGAAGTGGTCCCGAC	0.552																																																0																																										SO:0001651	inframe_deletion	171024			AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.441_443delAAG	chr4.hg19:g.119947965_119947967delAAG	ENSP00000395143:p.Arg147del		B2RWP6|B2Y8J9|Q9UK89|S5XAM4	In_Frame_Del	DEL	ENST00000429713.2	hg19	CCDS47129.1																																																																																				0.552	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364020.1			-	119947967	AAG	-	119947965	7	5	678	1	0	1	0	1	0	0	0	0	15462	243	9	0	451	0	SYNPO2	4	119947965	In_Frame_Del	DEL	AAG	TCGA-IA-A40U-01A-11D-A25F-10	4	119947965	71206311	10	37379	282	2									
FAT4	79633	hgsc.bcm.edu	37	4	126240999	126240999	+	Missense_Mutation	SNP	G	G	A			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr4:126240999G>A	ENST00000394329.3	+	1	3446	c.3433G>A	c.(3433-3435)Gat>Aat	p.D1145N		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1145	Cadherin 11. {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						GGTGCAGCCAGATTTTGAGTT	0.453																																																0													160	162	162					4																	126240999		1913	4132	6045	SO:0001583	missense	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.3433G>A	chr4.hg19:g.126240999G>A	ENSP00000377862:p.Asp1145Asn		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	hg19	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	11.28	1.592284	0.28357	.	.	ENSG00000196159	ENST00000394329	T	0.49432	0.78	4.99	4.14	0.48551	Cadherin (4);Cadherin-like (1);	0.223514	0.21270	N	0.077330	T	0.36580	0.0972	L	0.37507	1.11	0.80722	D	1	B	0.11235	0.004	B	0.10450	0.005	T	0.12400	-1.0549	10	0.13108	T	0.6	.	13.9069	0.63841	0.0744:0.0:0.9256:0.0	.	1145	Q6V0I7	FAT4_HUMAN	N	1145	ENSP00000377862:D1145N	ENSP00000377862:D1145N	D	+	1	0	FAT4	126460449	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.076000	0.71267	1.299000	0.44798	0.561000	0.74099	GAT		0.453	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		A	126240999	G	A	126240999	3	1	678	1	0	0	0	0	1	0	0	0	5694	942	33	2	3435	2	FAT4	4	126240999	Missense_Mutation	SNP	G	TCGA-IA-A40U-01A-11D-A25F-10	6293034	126240999	64913277	11	37380											
ADCY2	108	hgsc.bcm.edu	37	5	7816984	7816984	+	Silent	SNP	C	C	T			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr5:7816984C>T	ENST00000338316.4	+	23	2978	c.2889C>T	c.(2887-2889)ccC>ccT	p.P963P	ADCY2_ENST00000537121.1_Silent_p.P783P	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	963					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						CTCAGGAGCCCGAGCGGCAGT	0.502											OREG0016499	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													148	124	132					5																	7816984		2203	4300	6503	SO:0001819	synonymous_variant	108			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.2889C>T	chr5.hg19:g.7816984C>T		644	B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Silent	SNP	ENST00000338316.4	hg19	CCDS3872.2																																																																																				0.502	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		T	7816984	C	T	7816984	2	4	678	1	0	0	0	0	0	0	0	1	294	639	23	1		1	ADCY2	5	7816984	Silent	SNP	C	TCGA-IA-A40U-01A-11D-A25F-10		7816984	173098276	12	37381											
NUP155	9631	hgsc.bcm.edu	37	5	37307409	37307409	+	Missense_Mutation	SNP	A	A	G			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr5:37307409A>G	ENST00000231498.3	-	25	3096	c.2893T>C	c.(2893-2895)Ttc>Ctc	p.F965L	NUP155_ENST00000502533.1_5'UTR|NUP155_ENST00000513532.1_Missense_Mutation_p.F901L|NUP155_ENST00000381843.2_Missense_Mutation_p.F906L	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	965					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)			CTTTCTTGGAAGGCCTGAAGT	0.358																																																0													112	104	106					5																	37307409		2203	4300	6503	SO:0001583	missense	9631			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.2893T>C	chr5.hg19:g.37307409A>G	ENSP00000231498:p.Phe965Leu		Q9UBE9|Q9UFL5	Missense_Mutation	SNP	ENST00000231498.3	hg19	CCDS3921.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.964993	0.74131	.	.	ENSG00000113569	ENST00000231498;ENST00000381843;ENST00000434056;ENST00000513532	T;T;T	0.77750	-1.11;-1.1;-1.12	5.3	5.3	0.74995	Nucleoporin, Nup133/Nup155-like, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.77778	0.4181	L	0.56124	1.755	0.58432	D	0.999999	P;P	0.45827	0.867;0.568	P;P	0.48063	0.565;0.534	T	0.74734	-0.3565	10	0.20046	T	0.44	-2.0962	15.2661	0.73663	1.0:0.0:0.0:0.0	.	901;965	E9PF10;O75694	.;NU155_HUMAN	L	965;906;927;901	ENSP00000231498:F965L;ENSP00000371265:F906L;ENSP00000422019:F901L	ENSP00000231498:F965L	F	-	1	0	NUP155	37343166	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	8.959000	0.93110	2.016000	0.59253	0.533000	0.62120	TTC		0.358	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207593.2	NM_153485, NM_004298		G	37307409	A	G	37307409	3	3	678	1	0	0	0	0	1	0	0	0	10758	72	3	3	1326	3	NUP155	5	37307409	Missense_Mutation	SNP	A	TCGA-IA-A40U-01A-11D-A25F-10	29490425	37307409	143607851	13	37382											
PAM	5066	hgsc.bcm.edu	37	5	102237063	102237063	+	Missense_Mutation	SNP	G	G	A			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr5:102237063G>A	ENST00000438793.3	+	3	684	c.214G>A	c.(214-216)Gat>Aat	p.D72N	PAM_ENST00000346918.2_Missense_Mutation_p.D72N|PAM_ENST00000379787.4_5'UTR|PAM_ENST00000455264.2_Missense_Mutation_p.D72N|PAM_ENST00000304400.7_Missense_Mutation_p.D72N|PAM_ENST00000348126.2_Missense_Mutation_p.D72N|PAM_ENST00000274392.9_Intron	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	72	Peptidylglycine alpha-hydroxylating monooxygenase. {ECO:0000250}.				central nervous system development (GO:0007417)|heart development (GO:0007507)|lactation (GO:0007595)|limb development (GO:0060173)|long-chain fatty acid metabolic process (GO:0001676)|maternal process involved in female pregnancy (GO:0060135)|odontogenesis (GO:0042476)|ovulation cycle process (GO:0022602)|peptide amidation (GO:0001519)|protein amidation (GO:0018032)|protein homooligomerization (GO:0051260)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of protein secretion (GO:0050708)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to pH (GO:0009268)|toxin metabolic process (GO:0009404)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network (GO:0005802)	calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|L-ascorbic acid binding (GO:0031418)|peptidylamidoglycolate lyase activity (GO:0004598)|peptidylglycine monooxygenase activity (GO:0004504)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	TTAATAGTCCGATACATACTT	0.353																																																0													106	107	107					5																	102237063		2203	4300	6503	SO:0001583	missense	5066			AB095007	CCDS4092.1, CCDS4093.1, CCDS4094.1, CCDS43348.1, CCDS54885.1	5q	2008-02-05			ENSG00000145730	ENSG00000145730	1.14.17.3		8596	protein-coding gene	gene with protein product	"peptidyl-alpha-hydroxyglycine alpha-amidating lyase", "peptidylglycine alpha-hydroxylating monooxygenase"	170270				2357221	Standard	NM_000919		Approved	PAL, PHM	uc003knt.3	P19021	OTTHUMG00000128729	ENST00000438793.3:c.214G>A	chr5.hg19:g.102237063G>A	ENSP00000396493:p.Asp72Asn		A6NMR0|A8K293|O43211|O95080|Q16252|Q16253|Q54A45|Q86U53|Q8WVC7|Q9UCG0	Missense_Mutation	SNP	ENST00000438793.3	hg19	CCDS54885.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.396904	0.83120	.	.	ENSG00000145730	ENST00000438793;ENST00000346918;ENST00000348126;ENST00000304400;ENST00000455264	T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01	5.39	5.39	0.77823	Copper type II, ascorbate-dependent monooxygenase, N-terminal (2);PHM/PNGase F domain (1);	0.092891	0.64402	D	0.000001	T	0.69205	0.3085	M	0.86651	2.83	0.80722	D	1	D;D;P;D;D	0.76494	0.993;0.997;0.798;0.991;0.999	P;P;B;P;D	0.64237	0.824;0.826;0.236;0.73;0.923	T	0.74494	-0.3647	10	0.66056	D	0.02	.	19.5261	0.95208	0.0:0.0:1.0:0.0	.	72;72;72;72;72	P19021;P19021-4;P19021-3;P19021-5;P19021-2	AMD_HUMAN;.;.;.;.	N	72	ENSP00000396493:D72N;ENSP00000282992:D72N;ENSP00000314638:D72N;ENSP00000306100:D72N;ENSP00000403461:D72N	ENSP00000306100:D72N	D	+	1	0	PAM	102264962	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	6.709000	0.74665	2.668000	0.90789	0.650000	0.86243	GAT		0.353	PAM-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250640.2	NM_000919		A	102237063	G	A	102237063	3	1	678	1	0	0	0	0	1	0	0	0	11414	1058	37	1	224	1	PAM	5	102237063	Missense_Mutation	SNP	G	TCGA-IA-A40U-01A-11D-A25F-10	64929654	102237063	78678197	14	37383											
RNF14	9604	hgsc.bcm.edu	37	5	141357939	141357939	+	Missense_Mutation	SNP	G	G	T			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr5:141357939G>T	ENST00000394520.2	+	5	687	c.378G>T	c.(376-378)tgG>tgT	p.W126C	RNF14_ENST00000394519.1_Missense_Mutation_p.W126C|RNF14_ENST00000394515.3_Intron|RNF14_ENST00000356143.1_Missense_Mutation_p.W126C|RNF14_ENST00000347642.3_Missense_Mutation_p.W126C|RNF14_ENST00000540015.1_Intron|RNF14_ENST00000502341.1_3'UTR|AC005740.5_ENST00000520882.1_RNA|RNF14_ENST00000394514.2_5'UTR	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	ring finger protein 14	126	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.				androgen receptor signaling pathway (GO:0030521)|positive regulation of transcription, DNA-templated (GO:0045893)|protein ubiquitination (GO:0016567)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|small conjugating protein ligase activity (GO:0019787)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		TGTTTGCCTGGATGCAATTTC	0.448																																																0													126	113	117					5																	141357939		2203	4300	6503	SO:0001583	missense	9604			AF060544	CCDS4270.1, CCDS4271.1	5q23.3-q31.1	2008-02-05			ENSG00000013561	ENSG00000013561		"RING-type (C3HC4) zinc fingers"	10058	protein-coding gene	gene with protein product		605675				10085091, 10320776	Standard	NM_183399		Approved	ARA54, HFB30, TRIAD2	uc003lmc.3	Q9UBS8	OTTHUMG00000129660	ENST00000394520.2:c.378G>T	chr5.hg19:g.141357939G>T	ENSP00000378028:p.Trp126Cys		A0AV26|A6NMR2|A8MTW5|B3KN72|B7ZLV2|D3DQE4|O94793|Q6IBV0	Missense_Mutation	SNP	ENST00000394520.2	hg19	CCDS4270.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.419220	0.83559	.	.	ENSG00000013561	ENST00000511961;ENST00000506822;ENST00000356143;ENST00000394520;ENST00000347642;ENST00000506938;ENST00000507163;ENST00000394519	T;T;T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92	5.67	5.67	0.87782	Ubiquitin-conjugating enzyme/RWD-like (2);RWD domain (3);	0.000000	0.85682	D	0.000000	T	0.72645	0.3486	M	0.90922	3.16	0.80722	D	1	D	0.59767	0.986	D	0.72338	0.977	T	0.74490	-0.3648	10	0.37606	T	0.19	.	19.8351	0.96655	0.0:0.0:1.0:0.0	.	126	Q9UBS8	RNF14_HUMAN	C	126	ENSP00000423420:W126C;ENSP00000423273:W126C;ENSP00000348462:W126C;ENSP00000378028:W126C;ENSP00000324956:W126C;ENSP00000420837:W126C;ENSP00000422527:W126C;ENSP00000378027:W126C	ENSP00000324956:W126C	W	+	3	0	RNF14	141338123	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.513000	0.98010	2.702000	0.92279	0.558000	0.71614	TGG		0.448	RNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251860.2	NM_004290		T	141357939	G	T	141357939	3	4	678	1	0	0	0	0	1	0	0	0	13449	1183	41	4	388	4	RNF14	5	141357939	Missense_Mutation	SNP	G	TCGA-IA-A40U-01A-11D-A25F-10	39120876	141357939	39557321	15	37384											
GEMIN5	25929	hgsc.bcm.edu	37	5	154278113	154278113	+	Missense_Mutation	SNP	C	C	T	rs144363013	byFrequency	TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr5:154278113C>T	ENST00000285873.7	-	23	3307	c.3232G>A	c.(3232-3234)Gta>Ata	p.V1078I		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	1078					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)			TCCTCTCCTACGATGGCAGCC	0.552													C|||	2	0.000399361	0.0008	0.0	5008	,	,		18001	0.0		0.001	False		,,,				2504	0.0															0								C	ILE/VAL	3,4403	6.2+/-15.9	0,3,2200	95	86	89		3232	2.2	0	5	dbSNP_134	89	6,8594	5.0+/-18.6	0,6,4294	yes	missense	GEMIN5	NM_015465.3	29	0,9,6494	TT,TC,CC		0.0698,0.0681,0.0692	benign	1078/1509	154278113	9,12997	2203	4300	6503	SO:0001583	missense	25929			AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"WD repeat domain containing"	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.3232G>A	chr5.hg19:g.154278113C>T	ENSP00000285873:p.Val1078Ile		Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Missense_Mutation	SNP	ENST00000285873.7	hg19	CCDS4330.1	.	.	.	.	.	.	.	.	.	.	C	7.692	0.691317	0.15039	6.81E-4	6.98E-4	ENSG00000082516	ENST00000285873	T	0.69806	-0.43	5.91	2.19	0.27852	.	0.811288	0.11495	N	0.558347	T	0.47097	0.1427	L	0.36672	1.1	0.09310	N	1	P;P	0.36768	0.569;0.569	B;B	0.22152	0.038;0.038	T	0.13098	-1.0522	10	0.20519	T	0.43	-0.487	8.1531	0.31152	0.1114:0.6337:0.0:0.2549	.	1077;1078	B7ZLC9;Q8TEQ6	.;GEMI5_HUMAN	I	1078	ENSP00000285873:V1078I	ENSP00000285873:V1078I	V	-	1	0	GEMIN5	154258306	0.247000	0.23920	0.000000	0.03702	0.428000	0.31595	0.291000	0.18994	0.135000	0.18707	-0.797000	0.03246	GTA		0.552	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252507.1			T	154278113	C	T	154278113	3	4	678	1	0	0	0	0	1	0	0	0	6333	536	19	1	1318	1	GEMIN5	5	154278113	Missense_Mutation	SNP	C	TCGA-IA-A40U-01A-11D-A25F-10	12920174	154278113	26637147	16	37385											
TULP1	7287	hgsc.bcm.edu	37	6	35471606	35471606	+	Missense_Mutation	SNP	G	G	C			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr6:35471606G>C	ENST00000229771.6	-	12	1211	c.1132C>G	c.(1132-1134)Cgc>Ggc	p.R378G	TULP1_ENST00000322263.4_Missense_Mutation_p.R325G	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	378			R -> H (in RP14).		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						ACCGTGAAGCGGTTCCCCAGG	0.607																																					GBM(55;1027 1091 11115 23439)											0													44	39	41					6																	35471606		2203	4300	6503	SO:0001583	missense	7287			U82468	CCDS4807.1, CCDS75436.1	6p21.3	2014-01-28			ENSG00000112041	ENSG00000112041			12423	protein-coding gene	gene with protein product		602280		RP14		9096357, 9521870	Standard	NM_003322		Approved	TUBL1, LCA15	uc003okv.4	O00294	OTTHUMG00000014575	ENST00000229771.6:c.1132C>G	chr6.hg19:g.35471606G>C	ENSP00000229771:p.Arg378Gly		O43536|Q5TGM5|Q8N571	Missense_Mutation	SNP	ENST00000229771.6	hg19	CCDS4807.1	.	.	.	.	.	.	.	.	.	.	G	17.47	3.398726	0.62177	.	.	ENSG00000112041	ENST00000229771;ENST00000322263	D;D	0.85861	-2.04;-2.04	4.95	4.08	0.47627	Tubby, C-terminal (4);	0.060704	0.64402	D	0.000009	D	0.82976	0.5154	L	0.60455	1.87	0.33292	D	0.563614	D;P	0.56035	0.974;0.913	P;P	0.58577	0.841;0.584	D	0.83863	0.0269	10	0.87932	D	0	-13.8748	7.85	0.29448	0.0803:0.0:0.6548:0.2649	.	325;378	O00294-2;O00294	.;TULP1_HUMAN	G	378;325	ENSP00000229771:R378G;ENSP00000319414:R325G	ENSP00000229771:R378G	R	-	1	0	TULP1	35579584	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	5.638000	0.67861	1.075000	0.40932	0.491000	0.48974	CGC		0.607	TULP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040307.2			C	35471606	G	C	35471606	3	2	678	1	0	0	0	0	1	0	0	0	16778	1116	39	4	512	4	TULP1	6	35471606	Missense_Mutation	SNP	G	TCGA-IA-A40U-01A-11D-A25F-10		35471606	135643461	17	37386											
CNKSR3	154043	hgsc.bcm.edu	37	6	154732110	154732110	+	Missense_Mutation	SNP	T	T	C			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr6:154732110T>C	ENST00000607772.1	-	11	1781	c.1237A>G	c.(1237-1239)Aac>Gac	p.N413D	CNKSR3_ENST00000479339.1_Missense_Mutation_p.N333D|CNKSR3_ENST00000433165.2_Missense_Mutation_p.N238D	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	413	DUF1170.				negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)	cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		GGCAGAATGTTGGTTTCCACC	0.502																																																0													186	176	179					6																	154732110		2203	4300	6503	SO:0001583	missense	154043			AK055911	CCDS5246.1	6q25.2	2013-01-10	2005-04-11	2005-04-11	ENSG00000153721	ENSG00000153721		"Sterile alpha motif (SAM) domain containing"	23034	protein-coding gene	gene with protein product			"membrane associated guanylate kinase interacting protein-like 1"	MAGI1			Standard	NM_173515		Approved	FLJ31349		Q6P9H4	OTTHUMG00000015873	ENST00000607772.1:c.1237A>G	chr6.hg19:g.154732110T>C	ENSP00000475915:p.Asn413Asp		Q5SGD5|Q96N65	Missense_Mutation	SNP	ENST00000607772.1	hg19	CCDS5246.1	.	.	.	.	.	.	.	.	.	.	T	14.04	2.416814	0.42918	.	.	ENSG00000153721	ENST00000367209;ENST00000367213;ENST00000433165;ENST00000479339;ENST00000424998	T;T;T	0.46063	1.48;0.88;0.89	5.82	5.82	0.92795	Connector enhancer of kinase suppressor of ras 2 (1);	0.275495	0.38326	N	0.001731	T	0.26846	0.0657	L	0.59436	1.845	0.20764	N	0.999854	B	0.27625	0.183	B	0.31495	0.131	T	0.17349	-1.0372	10	0.59425	D	0.04	.	12.6716	0.56870	0.0:0.0:0.1375:0.8625	.	413	Q6P9H4	CNKR3_HUMAN	D	188;413;238;333;175	ENSP00000356182:N413D;ENSP00000414185:N238D;ENSP00000418975:N333D	ENSP00000356178:N188D	N	-	1	0	CNKSR3	154773802	0.999000	0.42202	0.966000	0.40874	0.822000	0.46500	3.065000	0.49994	2.222000	0.72286	0.533000	0.62120	AAC		0.502	CNKSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042792.2	NM_173515		C	154732110	T	C	154732110	3	2	678	1	0	0	0	0	1	0	0	0	3610	1812	63	3	442	3	CNKSR3	6	154732110	Missense_Mutation	SNP	T	TCGA-IA-A40U-01A-11D-A25F-10	119260504	154732110	16382957	18	37387											
MET	4233	hgsc.bcm.edu	37	7	116397543	116397543	+	Missense_Mutation	SNP	A	A	C			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr7:116397543A>C	ENST00000318493.6	+	7	2102	c.1915A>C	c.(1915-1917)Att>Ctt	p.I639L	MET_ENST00000436117.2_Missense_Mutation_p.I639L|MET_ENST00000397752.3_Missense_Mutation_p.I639L			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)			TATGTCCATAATTATTTCAAA	0.323			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																														Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	0													88	86	86					7																	116397543		1844	4100	5944	SO:0001583	missense	4233	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	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.1915A>C	chr7.hg19:g.116397543A>C	ENSP00000317272:p.Ile639Leu		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	hg19	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	A	12.37	1.917098	0.33815	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000436117	T;T;T	0.58652	0.32;0.32;0.32	5.4	-0.479	0.12089	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.634640	0.17750	N	0.163272	T	0.36991	0.0987	L	0.33485	1.01	0.58432	D	0.999999	B;B;B;B;B;B;B;B	0.06786	0.0;0.0;0.001;0.0;0.001;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.10450	0.001;0.002;0.004;0.005;0.004;0.004;0.001;0.004	T	0.07731	-1.0757	10	0.33141	T	0.24	.	2.8283	0.05491	0.6225:0.12:0.1419:0.1157	.	639;639;639;639;611;639;639;639	B5A929;E7EQ94;B5A930;B5A934;B5A936;B5A937;P08581-2;P08581	.;.;.;.;.;.;.;MET_HUMAN	L	639	ENSP00000380860:I639L;ENSP00000317272:I639L;ENSP00000410980:I639L	ENSP00000317272:I639L	I	+	1	0	MET	116184779	0.099000	0.21834	0.845000	0.33349	0.858000	0.48976	0.480000	0.22244	0.057000	0.16193	-0.334000	0.08254	ATT		0.323	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			C	116397543	A	C	116397543	3	2	678	1	0	0	0	0	1	0	0	0	9487	101	4	5	1937	5	MET	7	116397543	Missense_Mutation	SNP	A	TCGA-IA-A40U-01A-11D-A25F-10		116397543	42741120	19	37388											
MFHAS1	9258	hgsc.bcm.edu	37	8	8643536	8643536	+	Missense_Mutation	SNP	T	T	C			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr8:8643536T>C	ENST00000276282.6	-	3	3741	c.3155A>G	c.(3154-3156)cAg>cGg	p.Q1052R	MFHAS1_ENST00000520091.1_5'UTR	NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	1052										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)		CAAACGTCACTGGTTTCTGTG	0.473																																					Melanoma(103;1201 2045 17515 28966)											0													192	159	170					8																	8643536		2203	4300	6503	SO:0001583	missense	9258			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.3155A>G	chr8.hg19:g.8643536T>C	ENSP00000276282:p.Gln1052Arg		Q96CI0	Missense_Mutation	SNP	ENST00000276282.6	hg19	CCDS34844.1	.	.	.	.	.	.	.	.	.	.	T	18.70	3.679279	0.68042	.	.	ENSG00000147324	ENST00000276282	T	0.35236	1.32	5.61	5.61	0.85477	.	0.000000	0.42420	D	0.000702	T	0.36580	0.0972	N	0.08118	0	0.31388	N	0.678181	D	0.54601	0.967	P	0.62382	0.901	T	0.47749	-0.9093	10	0.87932	D	0	.	12.4865	0.55877	0.0:0.0:0.0:1.0	.	1052	Q9Y4C4	MFHA1_HUMAN	R	1052	ENSP00000276282:Q1052R	ENSP00000276282:Q1052R	Q	-	2	0	MFHAS1	8680946	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	2.564000	0.45931	2.266000	0.75297	0.533000	0.62120	CAG		0.473	MFHAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374724.2	NM_004225		C	8643536	T	C	8643536	3	2	678	1	0	0	0	0	1	0	0	0	9523	1580	55	3	7	3	MFHAS1	8	8643536	Missense_Mutation	SNP	T	TCGA-IA-A40U-01A-11D-A25F-10		8643536	137720486	20	37389											
C9orf89	84270	hgsc.bcm.edu	37	9	95874554	95874555	+	Missense_Mutation	DNP	TG	TG	GT			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10	T|G	T|G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr9:95874554_95874555TG>GT	ENST00000375464.2	+	5	547_548	c.419_420TG>GT	c.(418-420)cTG>cGT	p.L140R	C9orf89_ENST00000488630.1_3'UTR	NM_032310.3	NP_115686.3	Q96LW7	BINCA_HUMAN	chromosome 9 open reading frame 89	145					negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	CARD domain binding (GO:0050700)			endometrium(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						GCCCTGCTCCTGTACTGCTATC	0.668																																																0																																										SO:0001583	missense	84270			AK057716	CCDS6702.2	9q22.32	2012-03-16			ENSG00000165233	ENSG00000165233			28148	protein-coding gene	gene with protein product	"Bcl10-interacting protein with CARD"					12477932	Standard	XM_005252273		Approved	MGC11115, bA370F5.1, BinCARD	uc004atd.3	Q96LW7	OTTHUMG00000020243	Exception_encountered	chr9.hg19:g.95874554_95874555delinsGT	ENSP00000364613:p.Leu140Arg		Q5BJH8|Q9BSY2	Missense_Mutation|Silent	SNP	ENST00000375464.2	hg19	CCDS6702.2																																																																																				0.668	C9orf89-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053128.1	NM_032310		GT	95874555	TG	GT	95874554	3	3	678	1	0	0	0	0	1	0	0	0	2505	1580	55	5	437	5	C9orf89	9	95874554	Missense_Mutation	DNP	TG	TCGA-IA-A40U-01A-11D-A25F-10		95874554	45338877	21	37390											
CCDC3	83643	hgsc.bcm.edu	37	10	13043327	13043327	+	Missense_Mutation	SNP	G	G	T			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr10:13043327G>T	ENST00000378825.3	-	1	370	c.244C>A	c.(244-246)Ctg>Atg	p.L82M	CCDC3_ENST00000378839.1_Intron	NM_031455.3	NP_113643.1	Q9BQI4	CCDC3_HUMAN	coiled-coil domain containing 3	82						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)			TGGTCGCACAGCATCTCGACC	0.706																																																0													14	16	15					10																	13043327		2194	4293	6487	SO:0001583	missense	83643			BC051334	CCDS7093.1, CCDS60484.1	10p14	2004-02-13			ENSG00000151468	ENSG00000151468			23813	protein-coding gene	gene with protein product							Standard	NM_031455		Approved	DKFZp761F241	uc001ilq.1	Q9BQI4	OTTHUMG00000017689	ENST00000378825.3:c.244C>A	chr10.hg19:g.13043327G>T	ENSP00000368102:p.Leu82Met		Q5VYV8|Q5VYV9	Missense_Mutation	SNP	ENST00000378825.3	hg19	CCDS7093.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.029083	0.75504	.	.	ENSG00000151468	ENST00000378825	.	.	.	4.55	3.65	0.41850	.	0.000000	0.64402	D	0.000001	T	0.75788	0.3897	M	0.74258	2.255	0.50813	D	0.999899	D	0.76494	0.999	D	0.71656	0.974	T	0.76623	-0.2891	9	0.54805	T	0.06	-8.5593	11.5639	0.50794	0.0889:0.0:0.9111:0.0	.	82	Q9BQI4	CCDC3_HUMAN	M	82	.	ENSP00000368102:L82M	L	-	1	2	CCDC3	13083333	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.135000	0.71696	0.905000	0.36596	-0.224000	0.12420	CTG		0.706	CCDC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046829.1	NM_031455		T	13043327	G	T	13043327	3	4	678	1	0	0	0	0	1	0	0	0	2806	962	34	4	580	4	CCDC3	10	13043327	Missense_Mutation	SNP	G	TCGA-IA-A40U-01A-11D-A25F-10		13043327	122491420	22	37391											
C10orf72	196740	hgsc.bcm.edu	37	10	50311832	50311835	+	Intron	DEL	GGGC	GGGC	-			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10	GGGC	GGGC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr10:50311832_50311835delGGGC	ENST00000332853.4	-	2	481				VSTM4_ENST00000298454.3_Frame_Shift_Del_p.LP176fs	NM_001031746.3	NP_001026916.2	Q8IW00	VSTM4_HUMAN	V-set and transmembrane domain containing 4							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						CTGCGGTGAAGGGCAAAGAGTGAG	0.49																																																0																																										SO:0001627	intron_variant	196740			BC041414	CCDS7228.1, CCDS31198.1	10q11.23	2013-01-11	2011-07-01	2011-07-01	ENSG00000165633	ENSG00000165633		"Immunoglobulin superfamily / V-set domain containing"	26470	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 72"	C10orf72			Standard	XR_246075		Approved	FLJ31737	uc001jhf.2	Q8IW00	OTTHUMG00000018184	ENST00000332853.4:c.457+3803GCCC>-	chr10.hg19:g.50311832_50311835delGGGC			B4DNI6|Q96MX7	Frame_Shift_Del	DEL	ENST00000332853.4	hg19	CCDS31198.1																																																																																				0.49	VSTM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047966.2	NM_144984		-	50311835	GGGC	-	50311832	6	5	678	0	1	1	0	1	0	0	0	0	1617	987	35	0		0	C10orf72	10	50311832	Intron	DEL	GGGC	TCGA-IA-A40U-01A-11D-A25F-10	37268505	50311832	85222915	23	37392											
C10orf76	79591	hgsc.bcm.edu	37	10	103789497	103789497	+	Silent	SNP	C	C	T			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr10:103789497C>T	ENST00000370033.4	-	5	431	c.312G>A	c.(310-312)ctG>ctA	p.L104L	C10orf76_ENST00000311122.5_Silent_p.L104L	NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	104						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)		TGAGTGCGCACAGGGTCTGCA	0.473																																																0													112	104	107					10																	103789497		1928	4137	6065	SO:0001819	synonymous_variant	79591			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.312G>A	chr10.hg19:g.103789497C>T			Q2TB87|Q9H8Z9	Silent	SNP	ENST00000370033.4	hg19	CCDS41563.1																																																																																				0.473	C10orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050007.1	NM_024541		T	103789497	C	T	103789497	2	4	678	1	0	0	0	0	0	0	0	1	1618	465	17	2		2	C10orf76	10	103789497	Silent	SNP	C	TCGA-IA-A40U-01A-11D-A25F-10	53477665	103789497	31745250	24	37393											
PSD	5662	hgsc.bcm.edu	37	10	104173630	104173630	+	Missense_Mutation	SNP	C	C	A			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr10:104173630C>A	ENST00000020673.5	-	5	1975	c.1449G>T	c.(1447-1449)gaG>gaT	p.E483D	PSD_ENST00000406432.1_Missense_Mutation_p.E483D|PSD_ENST00000492902.2_5'Flank	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	483	Poly-Glu.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		CCTCCTCCTCCTCCCCTCTCT	0.677																																																0													30	34	33					10																	104173630		2203	4300	6503	SO:0001583	missense	5662			X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"Pleckstrin homology (PH) domain containing"	9507	protein-coding gene	gene with protein product		602327	"pleckstrin and Sec7 domain protein"			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.1449G>T	chr10.hg19:g.104173630C>A	ENSP00000020673:p.Glu483Asp		B1AKX7|D3DR87|Q15673|Q8IVG0	Missense_Mutation	SNP	ENST00000020673.5	hg19	CCDS31272.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.379979	0.42207	.	.	ENSG00000059915	ENST00000020673;ENST00000541902;ENST00000406432	T;T	0.19806	2.12;2.12	4.65	0.0368	0.14193	.	0.480088	0.20167	N	0.097814	T	0.11067	0.0270	N	0.24115	0.695	0.20638	N	0.999877	B	0.16396	0.017	B	0.09377	0.004	T	0.35895	-0.9770	10	0.13853	T	0.58	.	9.4906	0.38958	0.0:0.5847:0.0:0.4153	.	483	A5PKW4	PSD1_HUMAN	D	483;386;483	ENSP00000020673:E483D;ENSP00000384830:E483D	ENSP00000020673:E483D	E	-	3	2	PSD	104163620	0.473000	0.25878	0.998000	0.56505	0.989000	0.77384	-0.538000	0.06120	0.064000	0.16427	0.456000	0.33151	GAG		0.677	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050041.2			A	104173630	C	A	104173630	3	1	678	1	0	0	0	0	1	0	0	0	12651	680	24	4	1677	4	PSD	10	104173630	Missense_Mutation	SNP	C	TCGA-IA-A40U-01A-11D-A25F-10	384133	104173630	31361117	25	37394											
INPPL1	3636	hgsc.bcm.edu	37	11	71944164	71944164	+	Missense_Mutation	SNP	G	G	T			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr11:71944164G>T	ENST00000298229.2	+	17	2201	c.1997G>T	c.(1996-1998)gGt>gTt	p.G666V	INPPL1_ENST00000541756.1_Missense_Mutation_p.G424V|INPPL1_ENST00000538751.1_Missense_Mutation_p.G424V	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	666					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TATGAGCGGGGTTCCCGGGAC	0.602																																																0													49	48	48					11																	71944164		2200	4293	6493	SO:0001583	missense	3636			Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"Sterile alpha motif (SAM) domain containing", "SH2 domain containing"	6080	protein-coding gene	gene with protein product	"51C protein"	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.1997G>T	chr11.hg19:g.71944164G>T	ENSP00000298229:p.Gly666Val		B2RTX5|Q13577|Q13578	Missense_Mutation	SNP	ENST00000298229.2	hg19	CCDS8213.1	.	.	.	.	.	.	.	.	.	.	g	18.33	3.599890	0.66332	.	.	ENSG00000165458	ENST00000298229;ENST00000541756;ENST00000538751	D;D;D	0.95656	-3.77;-3.77;-3.77	5.66	5.66	0.87406	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.230735	0.44688	D	0.000437	D	0.98457	0.9486	H	0.97051	3.93	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.98338	1.0537	10	0.27082	T	0.32	.	17.588	0.87988	0.0:0.0:1.0:0.0	.	666	O15357	SHIP2_HUMAN	V	666;424;424	ENSP00000298229:G666V;ENSP00000446360:G424V;ENSP00000444619:G424V	ENSP00000298229:G666V	G	+	2	0	INPPL1	71621812	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.393000	0.97256	2.830000	0.97506	0.655000	0.94253	GGT		0.602	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396789.1	NM_001567		T	71944164	G	T	71944164	3	4	678	1	0	0	0	0	1	0	0	0	7763	1261	44	4	2063	4	INPPL1	11	71944164	Missense_Mutation	SNP	G	TCGA-IA-A40U-01A-11D-A25F-10		71944164	63062352	26	37395											
MMP27	64066	hgsc.bcm.edu	37	11	102563689	102563689	+	Missense_Mutation	SNP	T	T	G			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr11:102563689T>G	ENST00000260229.4	-	9	1368	c.1277A>C	c.(1276-1278)gAt>gCt	p.D426A		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	426					collagen catabolic process (GO:0030574)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)	Marimastat(DB00786)	GAAAGCAGCATCAACACGGAT	0.413																																																0													215	201	206					11																	102563689		2203	4299	6502	SO:0001583	missense	64066			AF195192	CCDS8319.1	11q24	2008-07-18	2005-08-08		ENSG00000137675	ENSG00000137675			14250	protein-coding gene	gene with protein product	"matrix metalloprotease 27"		"matrix metalloproteinase 27"			10419448	Standard	NM_022122		Approved		uc001phd.1	Q9H306	OTTHUMG00000168099	ENST00000260229.4:c.1277A>C	chr11.hg19:g.102563689T>G	ENSP00000260229:p.Asp426Ala		Q6UWK6	Missense_Mutation	SNP	ENST00000260229.4	hg19	CCDS8319.1	.	.	.	.	.	.	.	.	.	.	T	15.18	2.756835	0.49362	.	.	ENSG00000137675	ENST00000260229	T	0.20598	2.06	5.67	4.55	0.56014	Hemopexin/matrixin (2);	0.204141	0.33813	N	0.004526	T	0.50497	0.1619	M	0.90483	3.12	0.53688	D	0.999973	D	0.76494	0.999	D	0.67900	0.954	T	0.58578	-0.7612	10	0.72032	D	0.01	.	11.5591	0.50766	0.0:0.0698:0.0:0.9302	.	426	Q9H306	MMP27_HUMAN	A	426	ENSP00000260229:D426A	ENSP00000260229:D426A	D	-	2	0	MMP27	102068899	0.445000	0.25657	0.431000	0.26735	0.430000	0.31655	2.306000	0.43673	0.996000	0.38943	0.529000	0.55759	GAT		0.413	MMP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398128.1	NM_022122		G	102563689	T	G	102563689	3	3	678	1	0	0	0	0	1	0	0	0	9666	1435	50	5	272	5	MMP27	11	102563689	Missense_Mutation	SNP	T	TCGA-IA-A40U-01A-11D-A25F-10	30619525	102563689	32442827	27	37396											
PAFAH1B2	5049	hgsc.bcm.edu	37	11	117038364	117038364	+	Missense_Mutation	SNP	C	C	G	rs569223304		TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr11:117038364C>G	ENST00000527958.1	+	6	798	c.639C>G	c.(637-639)atC>atG	p.I213M	PAFAH1B2_ENST00000530272.1_Intron|PAFAH1B2_ENST00000526888.1_Intron|PAFAH1B2_ENST00000419197.2_Intron|PAFAH1B2_ENST00000529887.2_Intron	NM_002572.3	NP_002563.1	P68402	PA1B2_HUMAN	platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 (30kDa)	213					brain development (GO:0007420)|lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|positive regulation of macroautophagy (GO:0016239)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)			kidney(1)	1	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;1.68e-05)|Epithelial(105;0.000162)|all cancers(92;0.00111)		ATGAACTGATCATGCAGTTGT	0.488			T	IGH@	MLCLS																																		Dom	yes		11	11q23	5049	"platelet-activating factor acetylhydrolase, isoform Ib, beta subunit 30kDa"		L	0													82	68	73					11																	117038364		2201	4296	6497	SO:0001583	missense	5049			D63390	CCDS8380.1, CCDS53713.1, CCDS53714.1, CCDS53715.1	11q23	2011-10-24	2010-02-10			ENSG00000168092			8575	protein-coding gene	gene with protein product	"PAF-AH1b alpha 2 subunit"	602508	"platelet-activating factor acetylhydrolase, isoform Ib, beta subunit 30kDa", "platelet-activating factor acetylhydrolase, isoform Ib, subunit 2 (30kDa)"			9144386, 9693049	Standard	NM_002572		Approved		uc001pqe.2	P68402		ENST00000527958.1:c.639C>G	chr11.hg19:g.117038364C>G	ENSP00000435289:p.Ile213Met		A8DPS5|A8DPS6|A8DPS7|E9PEJ5|E9PLP3|O00687|Q29459|Q6IBR6	Missense_Mutation	SNP	ENST00000527958.1	hg19	CCDS8380.1	.	.	.	.	.	.	.	.	.	.	C	17.72	3.458076	0.63401	.	.	ENSG00000168092	ENST00000527958;ENST00000304808	T;T	0.56776	0.62;0.44	5.49	5.49	0.81192	Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);	0.053461	0.85682	D	0.000000	T	0.64360	0.2591	L	0.54323	1.7	0.80722	D	1	P	0.40931	0.733	P	0.51193	0.662	T	0.65685	-0.6108	10	0.72032	D	0.01	-9.1136	19.3671	0.94468	0.0:1.0:0.0:0.0	.	213	P68402	PA1B2_HUMAN	M	213;159	ENSP00000435289:I213M;ENSP00000304006:I159M	ENSP00000304006:I159M	I	+	3	3	PAFAH1B2	116543574	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.100000	0.50275	2.593000	0.87608	0.563000	0.77884	ATC		0.488	PAFAH1B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392826.1	NM_002572		G	117038364	C	G	117038364	3	3	678	1	0	0	0	0	1	0	0	0	11387	816	29	4	657	4	PAFAH1B2	11	117038364	Missense_Mutation	SNP	C	TCGA-IA-A40U-01A-11D-A25F-10	14474675	117038364	17968152	28	37397											
RECQL	5965	hgsc.bcm.edu	37	12	21623145	21623145	+	Missense_Mutation	SNP	T	T	G			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr12:21623145T>G	ENST00000444129.2	-	15	2401	c.1933A>C	c.(1933-1935)Aaa>Caa	p.K645Q	PYROXD1_ENST00000240651.9_3'UTR|RECQL_ENST00000421138.2_Missense_Mutation_p.K645Q|PYROXD1_ENST00000538582.1_3'UTR	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ helicase-like	645					DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand renaturation (GO:0000733)	membrane (GO:0016020)|nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						TCATCGATTTTTCTTTTCTTA	0.313								Other identified genes with known or suspected DNA repair function																																								0													79	81	80					12																	21623145		2202	4297	6499	SO:0001583	missense	5965			D37984	CCDS31756.1	12p12.1	2014-03-07	2014-03-07	2014-03-07	ENSG00000004700	ENSG00000004700			9948	protein-coding gene	gene with protein product	"DNA helicase Q1-like"	600537	"RecQ protein-like (DNA helicase Q1-like)"			7527136, 7961977	Standard	NM_002907		Approved	RecQ1, RecQL1	uc001rex.3	P46063	OTTHUMG00000169131	ENST00000444129.2:c.1933A>C	chr12.hg19:g.21623145T>G	ENSP00000416739:p.Lys645Gln		A8K6G2	Missense_Mutation	SNP	ENST00000444129.2	hg19	CCDS31756.1	.	.	.	.	.	.	.	.	.	.	T	17.60	3.429403	0.62844	.	.	ENSG00000004700	ENST00000444129;ENST00000421138	T;T	0.57907	0.37;0.37	4.56	4.56	0.56223	.	0.597468	0.16648	N	0.205325	T	0.48926	0.1527	L	0.32530	0.975	0.33037	D	0.530956	P	0.52316	0.952	P	0.49140	0.601	T	0.62553	-0.6830	10	0.66056	D	0.02	-7.7317	10.4656	0.44604	0.0:0.0:0.0:1.0	.	645	P46063	RECQ1_HUMAN	Q	645	ENSP00000416739:K645Q;ENSP00000395449:K645Q	ENSP00000395449:K645Q	K	-	1	0	RECQL	21514412	1.000000	0.71417	0.988000	0.46212	0.886000	0.51366	3.310000	0.51911	2.036000	0.60181	0.528000	0.53228	AAA		0.313	RECQL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402371.1	NM_002907		G	21623145	T	G	21623145	3	3	678	1	0	0	0	0	1	0	0	0	13207	1850	64	5	20	5	RECQL	12	21623145	Missense_Mutation	SNP	T	TCGA-IA-A40U-01A-11D-A25F-10		21623145	112228750	29	37398											
LRIG3	121227	hgsc.bcm.edu	37	12	59308047	59308047	+	Splice_Site	SNP	C	C	T	rs373824765		TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr12:59308047C>T	ENST00000320743.3	-	2	593	c.307G>A	c.(307-309)Gtg>Atg	p.V103M	LRIG3_ENST00000379141.4_Splice_Site_p.V43M	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	103					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)			AAGACTCACACTTCTCGAAGG	0.323			T	ROS1	NSCLC																																		Dom	yes		12	12q14.1	121227	leucine-rich repeats and immunoglobulin-like domains 3		E	0								C	MET/VAL,MET/VAL	0,4406		0,0,2203	97	104	101		127,307	4	1	12		101	1,8599	1.2+/-3.3	0,1,4299	no	missense-near-splice,missense-near-splice	LRIG3	NM_001136051.1,NM_153377.3	21,21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	43/1060,103/1120	59308047	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	121227			AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"Immunoglobulin superfamily / I-set domain containing"	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.308+1G>A	chr12.hg19:g.59308047C>T			Q6UXL7|Q8NC72	Missense_Mutation	SNP	ENST00000320743.3	hg19	CCDS8960.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.352857	0.41700	0.0	1.16E-4	ENSG00000139263	ENST00000379141;ENST00000320743;ENST00000552267	T;T;T	0.55052	1.74;1.53;0.54	5.86	3.99	0.46301	.	0.234157	0.21955	N	0.066677	T	0.44850	0.1313	M	0.63428	1.95	0.41104	D	0.985693	B;B	0.24823	0.112;0.02	B;B	0.24541	0.054;0.006	T	0.31696	-0.9934	9	.	.	.	.	5.4651	0.16637	0.0:0.5541:0.1389:0.307	.	43;103	Q6UXM1-2;Q6UXM1	.;LRIG3_HUMAN	M	43;103;10	ENSP00000368436:V43M;ENSP00000326759:V103M;ENSP00000449109:V10M	.	V	-	1	0	LRIG3	57594314	0.999000	0.42202	1.000000	0.80357	0.987000	0.75469	0.426000	0.21363	0.753000	0.32945	0.655000	0.94253	GTG		0.323	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377	Missense_Mutation	T	59308047	C	T	59308047	5	4	678	1	0	0	0	0	0	0	1	0	8948	579	20	2	3124	2	LRIG3	12	59308047	Splice_Site	SNP	C	TCGA-IA-A40U-01A-11D-A25F-10	37684902	59308047	74543848	30	37399											
CLMN	79789	hgsc.bcm.edu	37	14	95670380	95670380	+	Missense_Mutation	SNP	G	G	A			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr14:95670380G>A	ENST00000298912.4	-	9	1419	c.1306C>T	c.(1306-1308)Cct>Tct	p.P436S		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	436					negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		CTGCAGAAAGGATCCTTGTAG	0.478																																																0													115	110	112					14																	95670380		2203	4300	6503	SO:0001583	missense	79789			AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.1306C>T	chr14.hg19:g.95670380G>A	ENSP00000298912:p.Pro436Ser		B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Missense_Mutation	SNP	ENST00000298912.4	hg19	CCDS9933.1	.	.	.	.	.	.	.	.	.	.	G	5.446	0.267351	0.10294	.	.	ENSG00000165959	ENST00000298912	D	0.91894	-2.93	5.91	3.07	0.35406	.	0.178386	0.27311	N	0.019959	T	0.81555	0.4847	N	0.08118	0	0.09310	N	0.999997	B	0.16802	0.019	B	0.14023	0.01	T	0.71755	-0.4497	10	0.62326	D	0.03	.	8.3135	0.32086	0.0:0.6159:0.3036:0.0805	.	436	Q96JQ2	CLMN_HUMAN	S	436	ENSP00000298912:P436S	ENSP00000298912:P436S	P	-	1	0	CLMN	94740133	0.051000	0.20477	0.007000	0.13788	0.002000	0.02628	0.554000	0.23407	0.388000	0.25054	-0.839000	0.03059	CCT		0.478	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414518.2			A	95670380	G	A	95670380	3	1	678	1	0	0	0	0	1	0	0	0	3544	1174	41	2	1722	2	CLMN	14	95670380	Missense_Mutation	SNP	G	TCGA-IA-A40U-01A-11D-A25F-10		95670380	11679160	31	37400											
CSPG4	1464	hgsc.bcm.edu	37	15	75968209	75968209	+	Missense_Mutation	SNP	G	G	C			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr15:75968209G>C	ENST00000308508.5	-	10	6743	c.6651C>G	c.(6649-6651)ttC>ttG	p.F2217L	AC105020.1_ENST00000435356.1_5'Flank|CTD-2026K11.1_ENST00000569467.1_RNA	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	2217	Cysteine-containing.|Neurite growth inhibition. {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						TGGCCTCAAGGAAGCTCAGGA	0.622																																																0													80	78	79					15																	75968209		2197	4294	6491	SO:0001583	missense	1464			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.6651C>G	chr15.hg19:g.75968209G>C	ENSP00000312506:p.Phe2217Leu		D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	hg19	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.931673	0.34096	.	.	ENSG00000173546	ENST00000308508;ENST00000537176	T	0.18657	2.2	5.33	2.43	0.29744	.	0.080794	0.52532	N	0.000076	T	0.15609	0.0376	L	0.50333	1.59	0.24930	N	0.991921	B	0.10296	0.003	B	0.08055	0.003	T	0.36261	-0.9755	10	0.09843	T	0.71	.	8.3535	0.32316	0.3053:0.0:0.6947:0.0	.	2217	Q6UVK1	CSPG4_HUMAN	L	2217;249	ENSP00000312506:F2217L	ENSP00000312506:F2217L	F	-	3	2	CSPG4	73755264	1.000000	0.71417	0.865000	0.33974	0.938000	0.57974	0.970000	0.29383	0.251000	0.21505	0.561000	0.74099	TTC		0.622	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		C	75968209	G	C	75968209	3	2	678	1	0	0	0	0	1	0	0	0	3962	1165	41	4	321	4	CSPG4	15	75968209	Missense_Mutation	SNP	G	TCGA-IA-A40U-01A-11D-A25F-10		75968209	26563183	32	37401											
RHCG	51458	hgsc.bcm.edu	37	15	90030138	90030138	+	Missense_Mutation	SNP	G	G	A			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr15:90030138G>A	ENST00000268122.4	-	2	331	c.263C>T	c.(262-264)gCc>gTc	p.A88V	RHCG_ENST00000544600.1_Missense_Mutation_p.A88V	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	88					amine transport (GO:0015837)|ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|cellular ion homeostasis (GO:0006873)|epithelial cell differentiation (GO:0030855)|homeostatic process (GO:0042592)|regulation of pH (GO:0006885)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					GAAGCCCACGGCGCTGAAGCC	0.622																																																0													65	56	59					15																	90030138		2200	4299	6499	SO:0001583	missense	51458			AF081497	CCDS10351.1	15q25	2013-05-22	2006-02-23		ENSG00000140519	ENSG00000140519		"Solute carriers"	18140	protein-coding gene	gene with protein product		605381	"chromosome 15 open reading frame 6", "Rhesus blood group, C glycoprotein"	C15orf6		10852913	Standard	NM_016321		Approved	RHGK, PDRC2, SLC42A3	uc002bnz.2	Q9UBD6	OTTHUMG00000149647	ENST00000268122.4:c.263C>T	chr15.hg19:g.90030138G>A	ENSP00000268122:p.Ala88Val		A8K4D4|Q6X3Y4	Missense_Mutation	SNP	ENST00000268122.4	hg19	CCDS10351.1	.	.	.	.	.	.	.	.	.	.	g	17.75	3.466191	0.63625	.	.	ENSG00000140519	ENST00000544600;ENST00000268122;ENST00000536247	T;T	0.23552	1.9;1.9	4.76	2.79	0.32731	Ammonium transporter AmtB-like (3);	0.658388	0.16053	N	0.231841	T	0.49592	0.1566	M	0.88310	2.945	0.21386	N	0.99971	P	0.49358	0.923	P	0.53760	0.734	T	0.50021	-0.8876	9	.	.	.	-2.9237	14.3657	0.66805	0.0:0.4295:0.5705:0.0	.	88	Q9UBD6	RHCG_HUMAN	V	88;88;79	ENSP00000438123:A88V;ENSP00000268122:A88V	.	A	-	2	0	RHCG	87831142	0.691000	0.27709	0.099000	0.21106	0.817000	0.46193	2.392000	0.44433	0.397000	0.25310	0.479000	0.44913	GCC		0.622	RHCG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000312855.2	NM_016321		A	90030138	G	A	90030138	3	1	678	1	0	0	0	0	1	0	0	0	13332	1203	42	2	1212	2	RHCG	15	90030138	Missense_Mutation	SNP	G	TCGA-IA-A40U-01A-11D-A25F-10	14061929	90030138	12501254	33	37402											
STUB1	339123	hgsc.bcm.edu	37	16	732019	732019	+	3'UTR	SNP	G	G	T			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr16:732019G>T	ENST00000293882.4	-	0	1779				STUB1_ENST00000219548.4_Splice_Site|STUB1_ENST00000564370.1_Splice_Site|LA16c-313D11.9_ENST00000571933.1_RNA|STUB1_ENST00000565677.1_Splice_Site|JMJD8_ENST00000454700.1_3'UTR|JMJD8_ENST00000609261.1_3'UTR|JMJD8_ENST00000412368.2_3'UTR|STUB1_ENST00000566181.2_Splice_Site|LA16c-313D11.9_ENST00000567091.1_RNA			Q96S16	JMJD8_HUMAN	jumonji domain containing 8							extracellular vesicular exosome (GO:0070062)				breast(1)	1						ACTCTTCACAGGACAAGTACA	0.592																																																0													196	177	184					16																	732019		2201	4300	6501	SO:0001624	3_prime_UTR_variant	10273				CCDS45369.1	16p13.3	2008-07-28	2008-07-28	2008-07-28		ENSG00000161999			14148	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 20"	C16orf20			Standard	NM_001005920		Approved		uc002ciw.1	Q96S16		ENST00000293882.4:c.*775C>A	chr16.hg19:g.732019G>T			B2RNS7|D3DU58|Q4PKE3|Q4VBY1|Q6GMW5|Q71RB8	Splice_Site	SNP	ENST00000293882.4	hg19		.	.	.	.	.	.	.	.	.	.	G	13.81	2.348521	0.41599	.	.	ENSG00000103266	ENST00000219548	.	.	.	4.81	4.81	0.61882	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8172	0.85737	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	STUB1	672020	1.000000	0.71417	0.999000	0.59377	0.292000	0.27327	8.863000	0.92288	2.366000	0.80165	0.555000	0.69702	.		0.592	JMJD8-201	KNOWN	basic	protein_coding	protein_coding		NM_001005920		T	732019	G	T	732019	1	4	678	0	1	0	0	0	0	0	0	0	15340	1014	35	4		4	STUB1	16	732019	3'UTR	SNP	G	TCGA-IA-A40U-01A-11D-A25F-10		732019	89622734	34	37403											
GLG1	2734	hgsc.bcm.edu	37	16	74505165	74505165	+	Missense_Mutation	SNP	A	A	C			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr16:74505165A>C	ENST00000422840.2	-	15	2134	c.2135T>G	c.(2134-2136)aTa>aGa	p.I712R	GLG1_ENST00000205061.5_Missense_Mutation_p.I712R|GLG1_ENST00000447066.2_Missense_Mutation_p.I701R	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	712					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						CCCAGAGTCTATCTGGTTATC	0.458																																																0													251	213	226					16																	74505165		2198	4300	6498	SO:0001583	missense	2734				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.2135T>G	chr16.hg19:g.74505165A>C	ENSP00000405984:p.Ile712Arg		B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Missense_Mutation	SNP	ENST00000422840.2	hg19	CCDS45527.1	.	.	.	.	.	.	.	.	.	.	A	13.05	2.122299	0.37436	.	.	ENSG00000090863	ENST00000205061;ENST00000447066;ENST00000422840	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.68559	0.3014	L	0.49350	1.555	0.80722	D	1	D;D;D	0.65815	0.984;0.995;0.97	D;P;P	0.65684	0.937;0.901;0.905	T	0.62595	-0.6821	9	0.16896	T	0.51	-0.9347	16.8222	0.85835	1.0:0.0:0.0:0.0	.	712;712;701	Q92896;Q92896-2;B7Z8Y4	GSLG1_HUMAN;.;.	R	712;701;712	.	ENSP00000205061:I712R	I	-	2	0	GLG1	73062666	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.923000	0.70045	2.371000	0.80710	0.533000	0.62120	ATA		0.458	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435750.1	NM_012201		C	74505165	A	C	74505165	3	2	678	1	0	0	0	0	1	0	0	0	6438	449	16	5	1532	5	GLG1	16	74505165	Missense_Mutation	SNP	A	TCGA-IA-A40U-01A-11D-A25F-10	73773146	74505165	15849588	35	37404											
C16orf46	123775	hgsc.bcm.edu	37	16	81094972	81094972	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr16:81094972G>A	ENST00000299578.5	-	4	1217	c.982C>T	c.(982-984)Cag>Tag	p.Q328*	RP11-303E16.8_ENST00000564536.1_RNA|C16orf46_ENST00000378611.4_Nonsense_Mutation_p.Q328*|C16orf46_ENST00000444657.3_5'Flank	NM_152337.2	NP_689550.2	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	328						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						CCCCGTTTCTGCAGAAGCTGC	0.552																																																0													103	101	102					16																	81094972		2202	4300	6502	SO:0001587	stop_gained	123775			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.982C>T	chr16.hg19:g.81094972G>A	ENSP00000299578:p.Gln328*		Q96MA7	Nonsense_Mutation	SNP	ENST00000299578.5	hg19	CCDS10932.1	.	.	.	.	.	.	.	.	.	.	G	14.52	2.561321	0.45590	.	.	ENSG00000166455	ENST00000378611;ENST00000444657;ENST00000299578	.	.	.	5.23	1.87	0.25490	.	0.466272	0.20153	N	0.098118	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	14.4868	0.67622	0.0:0.414:0.5859:0.0	.	.	.	.	X	328;55;328	.	ENSP00000299578:Q328X	Q	-	1	0	C16orf46	79652473	1.000000	0.71417	0.998000	0.56505	0.073000	0.16967	1.093000	0.30939	0.653000	0.30826	0.563000	0.77884	CAG		0.552	C16orf46-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269054.2	NM_152337		A	81094972	G	A	81094972	4	1	678	1	0	0	0	0	0	1	0	0	1817	1328	46	2	237	2	C16orf46	16	81094972	Nonsense_Mutation	SNP	G	TCGA-IA-A40U-01A-11D-A25F-10	6589807	81094972	9259781	36	37405											
TRPV1	7442	hgsc.bcm.edu	37	17	3480482	3480482	+	Missense_Mutation	SNP	A	A	G			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr17:3480482A>G	ENST00000571088.1	-	12	1931	c.1718T>C	c.(1717-1719)aTc>aCc	p.I573T	TRPV1_ENST00000310522.5_Missense_Mutation_p.I513T|RP11-235E17.3_ENST00000573568.1_RNA|TRPV1_ENST00000399756.4_Missense_Mutation_p.I573T|TRPV1_ENST00000174621.6_Missense_Mutation_p.I571T|TRPV1_ENST00000425167.2_Missense_Mutation_p.I584T|TRPV1_ENST00000576351.1_Missense_Mutation_p.I563T|TRPV1_ENST00000399759.3_Missense_Mutation_p.I573T|SHPK_ENST00000572705.1_Missense_Mutation_p.I573T	NM_018727.5	NP_061197.4	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	573					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)	GTCTCTCAGGATCATCTGCAG	0.602																																					Melanoma(38;962 1762 15789)											0													34	34	34					17																	3480482		2044	4170	6214	SO:0001583	missense	7442			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.1718T>C	chr17.hg19:g.3480482A>G	ENSP00000461007:p.Ile573Thr		A2RUA9|Q3LU47|Q9H0G9|Q9H303|Q9H304|Q9NQ74|Q9NY22	Missense_Mutation	SNP	ENST00000571088.1	hg19	CCDS45576.1	.	.	.	.	.	.	.	.	.	.	A	19.04	3.749434	0.69533	.	.	ENSG00000196689	ENST00000399759;ENST00000399756;ENST00000174621;ENST00000425167;ENST00000310522	D;D;D;D;D	0.90504	-2.68;-2.68;-2.68;-2.68;-2.68	5.15	5.15	0.70609	Ion transport (1);	0.045746	0.85682	D	0.000000	D	0.95007	0.8384	M	0.88842	2.985	0.58432	D	0.999999	P;D;D;P	0.63046	0.764;0.975;0.992;0.77	B;P;P;B	0.58660	0.394;0.717;0.843;0.282	D	0.95830	0.8857	10	0.87932	D	0	-0.9535	14.4569	0.67423	1.0:0.0:0.0:0.0	.	573;571;513;584	Q8NER1;E7EQ80;E7ESJ2;E7EQ78	TRPV1_HUMAN;.;.;.	T	573;573;571;584;513	ENSP00000382661:I573T;ENSP00000382659:I573T;ENSP00000174621:I571T;ENSP00000409627:I584T;ENSP00000311692:I513T	ENSP00000174621:I571T	I	-	2	0	TRPV1	3427231	1.000000	0.71417	1.000000	0.80357	0.693000	0.40251	6.734000	0.74801	2.072000	0.62099	0.460000	0.39030	ATC		0.602	TRPV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438254.1	NM_018727		G	3480482	A	G	3480482	3	3	678	1	0	0	0	0	1	0	0	0	16600	333	12	3	494	3	TRPV1	17	3480482	Missense_Mutation	SNP	A	TCGA-IA-A40U-01A-11D-A25F-10		3480482	77714728	37	37406											
NCOR1	9611	hgsc.bcm.edu	37	17	15968952	15968952	+	Missense_Mutation	SNP	G	G	T			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr17:15968952G>T	ENST00000268712.3	-	33	5055	c.4798C>A	c.(4798-4800)Cag>Aag	p.Q1600K	NCOR1_ENST00000395851.1_Missense_Mutation_p.Q1616K|NCOR1_ENST00000395857.3_Missense_Mutation_p.Q184K	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1600	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)		AGCTGATACTGACTTGGGTAA	0.453																																																0													154	137	143					17																	15968952		2203	4300	6503	SO:0001583	missense	9611			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"thyroid hormone- and retinoic acid receptor-associated corepressor 1", "protein phosphatase 1, regulatory subunit 109"	600849	"nuclear receptor co-repressor 1"			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.4798C>A	chr17.hg19:g.15968952G>T	ENSP00000268712:p.Gln1600Lys		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	hg19	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.087095	0.76642	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000395857	T;T;T	0.47528	0.84;0.84;0.84	5.58	5.58	0.84498	.	0.104733	0.64402	D	0.000003	T	0.65964	0.2742	L	0.57536	1.79	0.40995	D	0.984889	D;D;P;P;P	0.59767	0.986;0.962;0.9;0.94;0.856	D;P;B;P;P	0.72338	0.977;0.53;0.366;0.57;0.501	T	0.63611	-0.6598	10	0.39692	T	0.17	-9.3223	18.5647	0.91113	0.0:0.0:1.0:0.0	.	410;1504;1600;1616;120	B4DZ48;E7EVK1;O75376;O75376-2;Q86YY1	.;.;NCOR1_HUMAN;.;.	K	1600;1616;1504;184	ENSP00000268712:Q1600K;ENSP00000379192:Q1616K;ENSP00000379198:Q184K	ENSP00000268712:Q1600K	Q	-	1	0	NCOR1	15909677	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.984000	0.76186	2.625000	0.88918	0.557000	0.71058	CAG		0.453	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		T	15968952	G	T	15968952	3	4	678	1	0	0	0	0	1	0	0	0	10237	1299	45	4	2580	4	NCOR1	17	15968952	Missense_Mutation	SNP	G	TCGA-IA-A40U-01A-11D-A25F-10	12488470	15968952	65226258	38	37407											
KCNJ12	3768	hgsc.bcm.edu	37	17	21318895	21318895	+	Missense_Mutation	SNP	C	C	T			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr17:21318895C>T	ENST00000583088.1	+	3	1136	c.241C>T	c.(241-243)Cgg>Tgg	p.R81W	KCNJ12_ENST00000331718.5_Missense_Mutation_p.R81W	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	81					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.R81G(1)		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)	CATCCGCTGGCGGTACATGCT	0.577										Prostate(3;0.18)																																						1	Substitution - Missense(1)	lung(1)											205	126	153					17																	21318895		2203	4300	6503	SO:0001583	missense	100134444			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.241C>T	chr17.hg19:g.21318895C>T	ENSP00000463778:p.Arg81Trp		O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	hg19	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	C	19.52	3.843005	0.71488	.	.	ENSG00000184185	ENST00000331718	D	0.96011	-3.88	5.33	4.31	0.51392	Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);	0.000000	0.85682	D	0.000000	D	0.98128	0.9382	H	0.95043	3.615	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.98223	1.0479	10	0.87932	D	0	.	10.7711	0.46323	0.4271:0.5729:0.0:0.0	.	81	Q14500	IRK12_HUMAN	W	81	ENSP00000328150:R81W	ENSP00000328150:R81W	R	+	1	2	KCNJ12	21259488	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.669000	0.46825	2.506000	0.84524	0.591000	0.81541	CGG		0.577	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		T	21318895	C	T	21318895	3	4	678	1	0	0	0	0	1	0	0	0	8048	759	27	1	243	1	KCNJ12	17	21318895	Missense_Mutation	SNP	C	TCGA-IA-A40U-01A-11D-A25F-10	5349943	21318895	59876315	39	37408											
PPM1E	22843	hgsc.bcm.edu	37	17	56833457	56833457	+	Silent	SNP	G	G	C	rs3834568|rs201186780|rs74256772	byFrequency	TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr17:56833457G>C	ENST00000308249.2	+	1	228	c.99G>C	c.(97-99)ccG>ccC	p.P33P		NM_014906.4	NP_055721.3	Q96MI6	PPM1M_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	0	PP2C-like.				protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|manganese ion binding (GO:0030145)			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			agccggagccggaacccgaac	0.672																																																0													14	20	18					17																	56833457		2188	4284	6472	SO:0001819	synonymous_variant	22843			AB028995	CCDS11613.1	17q24.2	2012-04-17	2010-03-05		ENSG00000175175	ENSG00000175175		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	19322	protein-coding gene	gene with protein product	"partner of PIX 1", "nuclear calmodulin-dependent protein kinase phosphatase"		"protein phosphatase 1E (PP2C domain containing)"			11864573, 10470851	Standard	NR_048561		Approved	POPX1, KIAA1072, PP2CH, CaMKP-N	uc002iwx.4	Q8WY54		ENST00000308249.2:c.99G>C	chr17.hg19:g.56833457G>C			Q8N8J9|Q96DB8	Silent	SNP	ENST00000308249.2	hg19	CCDS11613.1																																																																																				0.672	PPM1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445458.1	NM_014906		C	56833457	G	C	56833457	2	2	678	1	0	0	0	0	0	0	0	1	12343	1103	39	4		4	PPM1E	17	56833457	Silent	SNP	G	TCGA-IA-A40U-01A-11D-A25F-10	35514562	56833457	24361753	40	37409											
DNAH17	8632	hgsc.bcm.edu	37	17	76449535	76449535	+	Silent	SNP	G	G	T			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr17:76449535G>T	ENST00000585328.1	-	65	10528	c.10404C>A	c.(10402-10404)gtC>gtA	p.V3468V	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000389840.5_Silent_p.V3459V	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3459	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(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)			CCTGCTCGATGACATCCAGGT	0.617																																																0													112	76	88					17																	76449535		2203	4300	6503	SO:0001819	synonymous_variant	8632			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.10404C>A	chr17.hg19:g.76449535G>T			O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	hg19																																																																																					0.617	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		T	76449535	G	T	76449535	2	4	678	1	0	0	0	0	0	0	0	1	4603	1277	45	4		4	DNAH17	17	76449535	Silent	SNP	G	TCGA-IA-A40U-01A-11D-A25F-10	19616078	76449535	4745675	41	37410											
PTPRM	5797	hgsc.bcm.edu	37	18	8314790	8314790	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr18:8314790C>T	ENST00000332175.8	+	19	3852	c.2815C>T	c.(2815-2817)Cga>Tga	p.R939*	PTPRM_ENST00000444013.1_Nonsense_Mutation_p.R726*|PTPRM_ENST00000400060.4_Nonsense_Mutation_p.R953*|PTPRM_ENST00000580170.1_Nonsense_Mutation_p.R952*|PTPRM_ENST00000400053.4_Nonsense_Mutation_p.R877*	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	939	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)				CGATCATTCCCGAGTGAGGCT	0.353																																																0													149	142	145					18																	8314790		2203	4300	6503	SO:0001587	stop_gained	5797			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.2815C>T	chr18.hg19:g.8314790C>T	ENSP00000331418:p.Arg939*		A7MBN1|D3DUH8|J3QL11	Nonsense_Mutation	SNP	ENST00000332175.8	hg19	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	C	50	17.034461	0.99877	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.1802	0.98196	0.0:1.0:0.0:0.0	.	.	.	.	X	939;953;877;726	.	ENSP00000331418:R939X	R	+	1	2	PTPRM	8304790	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.775000	0.55349	2.777000	0.95525	0.655000	0.94253	CGA		0.353	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			T	8314790	C	T	8314790	4	4	678	1	0	0	0	0	0	1	0	0	12812	644	23	1	2936	1	PTPRM	18	8314790	Nonsense_Mutation	SNP	C	TCGA-IA-A40U-01A-11D-A25F-10		8314790	69762458	42	37411											
MAP4K1	11184	hgsc.bcm.edu	37	19	39101749	39101755	+	Frame_Shift_Del	DEL	ATGAAGT	ATGAAGT	-			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10	ATGAAGT	ATGAAGT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr19:39101749_39101755delATGAAGT	ENST00000591517.1	-	11	774_780	c.746_752delACTTCAT	c.(745-753)aacttcatcfs	p.NFI249fs	MAP4K1_ENST00000423454.2_Intron|MAP4K1_ENST00000589130.1_Frame_Shift_Del_p.NFI245fs|MAP4K1_ENST00000589002.1_Intron|MAP4K1_ENST00000396857.2_Frame_Shift_Del_p.NFI249fs|MAP4K1_ENST00000586296.1_Frame_Shift_Del_p.NFI249fs	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	249	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)	membrane (GO:0016020)	ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AGTGACTTTGATGAAGTTGTGGAAGGC	0.575																																																0																																										SO:0001589	frameshift_variant	11184			U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6863	protein-coding gene	gene with protein product	"hematopoietic progenitor kinase 1"	601983				8824585	Standard	NM_001042600		Approved	HPK1	uc002oix.1	Q92918		ENST00000591517.1:c.746_752delACTTCAT	chr19.hg19:g.39101749_39101755delATGAAGT	ENSP00000465039:p.Asn249fs			Frame_Shift_Del	DEL	ENST00000591517.1	hg19	CCDS59385.1																																																																																				0.575	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453390.1	NM_001042600		-	39101755	ATGAAGT	-	39101749	7	5	678	1	0	1	0	1	0	0	0	0	9261	333	12	0	1899	0	MAP4K1	19	39101749	Frame_Shift_Del	DEL	ATGAAGT	TCGA-IA-A40U-01A-11D-A25F-10		39101749	20027234	43	37412											
MZF1	7593	hgsc.bcm.edu	37	19	59082699	59082699	+	Missense_Mutation	SNP	C	C	T			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr19:59082699C>T	ENST00000215057.2	-	2	618	c.58G>A	c.(58-60)Gtc>Atc	p.V20I	MZF1_ENST00000594108.1_Missense_Mutation_p.V20I|MZF1_ENST00000599369.1_Missense_Mutation_p.V20I|MZF1_ENST00000594234.1_Missense_Mutation_p.V20I|AC016629.8_ENST00000593642.1_RNA|AC016629.8_ENST00000600726.1_RNA|AC016629.8_ENST00000600534.1_RNA	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	20					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	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)|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 regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		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;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		TTCACCATGACAGGCCCCTCA	0.627																																																0													32	37	35					19																	59082699		2200	4300	6500	SO:0001583	missense	7593			M58297	CCDS12988.1, CCDS59427.1	19q13.43	2014-08-22	2006-06-15	2006-06-15	ENSG00000099326	ENSG00000099326		"-", "Zinc fingers, C2H2-type"	13108	protein-coding gene	gene with protein product		194550	"zinc finger protein 42 (myeloid-specific retinoic acid-responsive)"	ZNF42		1860835	Standard	NM_198055		Approved	ZSCAN6, MZF1B, MZF-1, Zfp98	uc002qtn.3	P28698	OTTHUMG00000183550	ENST00000215057.2:c.58G>A	chr19.hg19:g.59082699C>T	ENSP00000215057:p.Val20Ile		M0QXU0|Q7Z729|Q96I71|Q9NRY0|Q9UBW2	Missense_Mutation	SNP	ENST00000215057.2	hg19	CCDS12988.1	.	.	.	.	.	.	.	.	.	.	.	9.755	1.168475	0.21621	.	.	ENSG00000099326	ENST00000215057	T	0.06768	3.26	4.06	-3.61	0.04556	.	0.426572	0.17300	N	0.179278	T	0.02848	0.0085	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.42032	-0.9475	9	.	.	.	-14.6825	5.3908	0.16244	0.0:0.4053:0.1456:0.4491	.	20;20	Q7Z729;P28698	.;MZF1_HUMAN	I	20	ENSP00000215057:V20I	.	V	-	1	0	MZF1	63774511	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.161000	0.10026	-0.559000	0.06110	-0.878000	0.02970	GTC		0.627	MZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467112.1	NM_198055		T	59082699	C	T	59082699	3	4	678	1	0	0	0	0	1	0	0	0	10110	478	17	2	2166	2	MZF1	19	59082699	Missense_Mutation	SNP	C	TCGA-IA-A40U-01A-11D-A25F-10	19980950	59082699	46284	44	37413											
TAB1	10454	hgsc.bcm.edu	37	22	39814795	39814795	+	Silent	SNP	G	G	A			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr22:39814795G>A	ENST00000216160.6	+	6	671	c.609G>A	c.(607-609)ctG>ctA	p.L203L	TAB1_ENST00000331454.3_Silent_p.L203L	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	203	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						TGACACAGCTGAACGTGGACC	0.537																																																0													164	122	136					22																	39814795		2203	4300	6503	SO:0001819	synonymous_variant	10454			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.609G>A	chr22.hg19:g.39814795G>A			Q2PP09|Q8IZW2	Silent	SNP	ENST00000216160.6	hg19	CCDS13993.1																																																																																				0.537	TAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321313.1	NM_153497		A	39814795	G	A	39814795	2	1	678	1	0	0	0	0	0	0	0	1	15500	1277	45	2		2	TAB1	22	39814795	Silent	SNP	G	TCGA-IA-A40U-01A-11D-A25F-10		39814795	11489771	45	37414											
LRRC8B	23507	hgsc.bcm.edu	37	1	90048545	90048545	+	Silent	SNP	A	A	G			TCGA-IA-A40X-01A-11D-A25F-10	TCGA-IA-A40X-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e1217ebe-1826-41a9-b6c4-702100a66f5e	611a2445-8df1-4abd-bb6b-4954ee1dc47d	g.chr1:90048545A>G	ENST00000330947.2	+	5	696	c.336A>G	c.(334-336)aaA>aaG	p.K112K	LRRC8B_ENST00000439853.1_Silent_p.K112K|LRRC8B_ENST00000358200.4_Silent_p.K112K|RP5-1007M22.2_ENST00000443562.1_RNA	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	112					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)		GTTACGAGAAACAGCTCCATT	0.512																																																0													158	154	155					1																	90048545		2203	4300	6503	SO:0001819	synonymous_variant	23507			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.336A>G	chr1.hg19:g.90048545A>G			D3DT28|Q6UY21|Q8N106|Q92627	Silent	SNP	ENST00000330947.2	hg19	CCDS724.1																																																																																				0.512	LRRC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028008.1	NM_015350		G	90048545	A	G	90048545	2	3	679	1	0	0	0	0	0	0	0	1	9024	40	2	3		3	LRRC8B	1	90048545	Silent	SNP	A	TCGA-IA-A40X-01A-11D-A25F-10		90048545	159202076	1	37415											
OTX1	5013	hgsc.bcm.edu	37	2	63282730	63282730	+	Missense_Mutation	SNP	T	T	A			TCGA-IA-A40X-01A-11D-A25F-10	TCGA-IA-A40X-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e1217ebe-1826-41a9-b6c4-702100a66f5e	611a2445-8df1-4abd-bb6b-4954ee1dc47d	g.chr2:63282730T>A	ENST00000282549.2	+	5	620	c.344T>A	c.(343-345)gTg>gAg	p.V115E	OTX1_ENST00000366671.3_Missense_Mutation_p.V115E	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	115					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)					TCCTCTCCAGTGCGGGAGAGC	0.647																																																0													37	38	38					2																	63282730		2203	4300	6503	SO:0001583	missense	5013				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.344T>A	chr2.hg19:g.63282730T>A	ENSP00000282549:p.Val115Glu		A6NHA2|B3KTJ4|Q53TG6	Missense_Mutation	SNP	ENST00000282549.2	hg19	CCDS1873.1	.	.	.	.	.	.	.	.	.	.	T	17.88	3.497563	0.64186	.	.	ENSG00000115507	ENST00000366671;ENST00000282549	D;D	0.90385	-2.66;-2.66	3.69	2.55	0.30701	.	0.158837	0.42053	D	0.000765	T	0.79411	0.4441	N	0.19112	0.55	0.41015	D	0.985031	P	0.45531	0.86	P	0.45232	0.474	T	0.76572	-0.2910	10	0.06757	T	0.87	.	3.9166	0.09225	0.0:0.3229:0.0:0.6771	.	115	P32242	OTX1_HUMAN	E	115	ENSP00000355631:V115E;ENSP00000282549:V115E	ENSP00000282549:V115E	V	+	2	0	OTX1	63136234	0.998000	0.40836	1.000000	0.80357	0.945000	0.59286	3.890000	0.56220	1.676000	0.50930	0.460000	0.39030	GTG		0.647	OTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251617.1			A	63282730	T	A	63282730	3	1	679	1	0	0	0	0	1	0	0	0	11322	1696	59	5	354	5	OTX1	2	63282730	Missense_Mutation	SNP	T	TCGA-IA-A40X-01A-11D-A25F-10		63282730	179916643	2	37416											
KCNJ3	3760	hgsc.bcm.edu	37	2	155555531	155555531	+	Missense_Mutation	SNP	T	T	C			TCGA-IA-A40X-01A-11D-A25F-10	TCGA-IA-A40X-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e1217ebe-1826-41a9-b6c4-702100a66f5e	611a2445-8df1-4abd-bb6b-4954ee1dc47d	g.chr2:155555531T>C	ENST00000295101.2	+	1	721	c.244T>C	c.(244-246)Tgg>Cgg	p.W82R	AC061961.2_ENST00000443901.1_RNA|KCNJ3_ENST00000544049.1_Missense_Mutation_p.W82R	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	KCNJ3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	82					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)			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)	CAAGTGGCGCTGGAACCTCTT	0.592																																																0													147	139	142					2																	155555531		2203	4300	6503	SO:0001583	missense	3760			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.244T>C	chr2.hg19:g.155555531T>C	ENSP00000295101:p.Trp82Arg		B4DEW7|Q8TBI0	Missense_Mutation	SNP	ENST00000295101.2	hg19	CCDS2200.1	.	.	.	.	.	.	.	.	.	.	T	18.26	3.585481	0.66105	.	.	ENSG00000162989	ENST00000295101;ENST00000544049	D;D	0.94184	-3.37;-3.37	5.16	5.16	0.70880	Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);	0.063086	0.64402	D	0.000001	D	0.95717	0.8607	M	0.73430	2.235	0.80722	D	1	D;D	0.54207	0.965;0.965	P;P	0.60886	0.88;0.879	D	0.96140	0.9099	10	0.87932	D	0	.	13.8034	0.63216	0.0:0.0:0.0:1.0	.	82;82	B4DEW7;P48549	.;IRK3_HUMAN	R	82	ENSP00000295101:W82R;ENSP00000438410:W82R	ENSP00000295101:W82R	W	+	1	0	KCNJ3	155263777	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.981000	0.88123	1.946000	0.56461	0.454000	0.30748	TGG		0.592	KCNJ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254890.2	NM_002239		C	155555531	T	C	155555531	3	2	679	1	0	0	0	0	1	0	0	0	8054	1580	55	3	246	3	KCNJ3	2	155555531	Missense_Mutation	SNP	T	TCGA-IA-A40X-01A-11D-A25F-10	92272801	155555531	87643842	3	37417											
TTN	7273	hgsc.bcm.edu	37	2	179615958	179615958	+	Intron	SNP	C	C	T	rs145004106	byFrequency	TCGA-IA-A40X-01A-11D-A25F-10	TCGA-IA-A40X-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e1217ebe-1826-41a9-b6c4-702100a66f5e	611a2445-8df1-4abd-bb6b-4954ee1dc47d	g.chr2:179615958C>T	ENST00000591111.1	-	45	10585				TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Silent_p.T3723T|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_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)			TTTCAGAAGACGTATCTAAAA	0.358													C|||	2	0.000399361	0.0008	0.0	5008	,	,		20087	0.001		0.0	False		,,,				2504	0.0															0								C	,,,,	1,4403	2.1+/-5.4	0,1,2201	61	60	60		,,11169,,	-1.5	0	2	dbSNP_134	60	1,8593	1.2+/-3.3	0,1,4296	no	intron,intron,coding-synonymous,intron,intron	TTN	NM_003319.4,NM_133378.4,NM_133379.3,NM_133432.3,NM_133437.3	,,,,	0,2,6497	TT,TC,CC		0.0116,0.0227,0.0154	,,,,	,,3723/5605,,	179615958	2,12996	2202	4297	6499	SO:0001627	intron_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+1892G>A	chr2.hg19:g.179615958C>T			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	hg19																																																																																					0.358	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179615958	C	T	179615958	1	4	679	0	1	0	0	0	0	0	0	0	16740	523	19	1		1	TTN	2	179615958	Intron	SNP	C	TCGA-IA-A40X-01A-11D-A25F-10	24060427	179615958	63583415	4	37418											
CRBN	51185	hgsc.bcm.edu	37	3	3209472	3209472	+	Missense_Mutation	SNP	T	T	G			TCGA-IA-A40X-01A-11D-A25F-10	TCGA-IA-A40X-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e1217ebe-1826-41a9-b6c4-702100a66f5e	611a2445-8df1-4abd-bb6b-4954ee1dc47d	g.chr3:3209472T>G	ENST00000231948.4	-	5	555	c.533A>C	c.(532-534)cAg>cCg	p.Q178P	CRBN_ENST00000432408.2_Missense_Mutation_p.Q177P	NM_016302.3	NP_057386.2	Q96SW2	CRBN_HUMAN	cereblon	178	Lon.				negative regulation of ion transmembrane transport (GO:0034766)|negative regulation of protein homooligomerization (GO:0032463)|positive regulation of protein homodimerization activity (GO:0090073)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP-dependent peptidase activity (GO:0004176)			endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	11				Epithelial(13;0.00244)|OV - Ovarian serous cystadenocarcinoma(96;0.00617)|all cancers(10;0.0079)	Lenalidomide(DB00480)|Pomalidomide(DB08910)|Thalidomide(DB01041)	TTTAGCTTGCTGGATTCTAAA	0.333																																																0													90	89	89					3																	3209472		2203	4300	6503	SO:0001583	missense	51185			BC017419	CCDS2562.1, CCDS54547.1	3p26.3	2014-05-27			ENSG00000113851	ENSG00000113851			30185	protein-coding gene	gene with protein product		609262	"mental retardation, non-syndromic, autosomal recessive, 2A"	MRT2A		15557513	Standard	NM_016302		Approved	MRT2	uc003bpq.3	Q96SW2	OTTHUMG00000090261	ENST00000231948.4:c.533A>C	chr3.hg19:g.3209472T>G	ENSP00000231948:p.Gln178Pro		B2R6H4|C9IZA9|C9JAH6|Q6AI62|Q6NVZ0|Q9UHW4	Missense_Mutation	SNP	ENST00000231948.4	hg19	CCDS2562.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.59|13.59	2.282820|2.282820	0.40394|0.40394	.|.	.|.	ENSG00000113851|ENSG00000113851	ENST00000231948;ENST00000432408;ENST00000546075|ENST00000424814;ENST00000450014	T;T|.	0.40225|.	1.04;1.04|.	5.1|5.1	5.1|5.1	0.69264|0.69264	Peptidase S16, lon N-terminal (2);PUA-like domain (1);|.	0.056186|.	0.64402|.	D|.	0.000001|.	T|T	0.38931|0.38931	0.1059|0.1059	N|N	0.08118|0.08118	0|0	0.54753|0.54753	D|D	0.999981|0.999981	B;B;B|.	0.06786|.	0.001;0.0;0.001|.	B;B;B|.	0.08055|.	0.003;0.002;0.003|.	T|T	0.31779|0.31779	-0.9931|-0.9931	10|5	0.29301|.	T|.	0.29|.	-13.9919|-13.9919	15.19|15.19	0.73035|0.73035	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	115;177;178|.	F5H3U1;Q96SW2-2;Q96SW2|.	.;.;CRBN_HUMAN|.	P|R	178;177;115|174	ENSP00000231948:Q178P;ENSP00000412499:Q177P|.	ENSP00000231948:Q178P|.	Q|S	-|-	2|1	0|0	CRBN|CRBN	3184472|3184472	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.567000|3.567000	0.53813|0.53813	2.045000|2.045000	0.60652|0.60652	0.533000|0.533000	0.62120|0.62120	CAG|AGC		0.333	CRBN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206579.3	NM_016302		G	3209472	T	G	3209472	3	3	679	1	0	0	0	0	1	0	0	0	3853	1580	55	5	823	5	CRBN	3	3209472	Missense_Mutation	SNP	T	TCGA-IA-A40X-01A-11D-A25F-10		3209472	194812958	5	37419											
KLHDC8B	200942	hgsc.bcm.edu	37	3	49212303	49212303	+	Missense_Mutation	SNP	G	G	A			TCGA-IA-A40X-01A-11D-A25F-10	TCGA-IA-A40X-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e1217ebe-1826-41a9-b6c4-702100a66f5e	611a2445-8df1-4abd-bb6b-4954ee1dc47d	g.chr3:49212303G>A	ENST00000332780.2	+	4	879	c.670G>A	c.(670-672)Gtc>Atc	p.V224I	KLHDC8B_ENST00000476495.2_3'UTR|C3orf84_ENST00000443990.1_5'Flank	NM_173546.2	NP_775817.1	Q8IXV7	KLD8B_HUMAN	kelch domain containing 8B	224						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)		TGAAGGCAGCGTCTTTAGCCT	0.592																																																0													50	51	51					3																	49212303		2203	4300	6503	SO:0001583	missense	200942				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.670G>A	chr3.hg19:g.49212303G>A	ENSP00000327468:p.Val224Ile			Missense_Mutation	SNP	ENST00000332780.2	hg19	CCDS2791.1	.	.	.	.	.	.	.	.	.	.	G	10.82	1.459584	0.26248	.	.	ENSG00000185909	ENST00000332780	T	0.71222	-0.55	5.97	2.98	0.34508	Kelch-type beta propeller (1);	0.187468	0.46145	N	0.000320	T	0.44498	0.1296	N	0.12182	0.205	0.32968	D	0.521921	B;B	0.25272	0.103;0.122	B;B	0.16289	0.009;0.015	T	0.44590	-0.9318	10	0.14252	T	0.57	-25.1154	6.9162	0.24361	0.1603:0.0:0.608:0.2317	.	178;224	B4DFM2;Q8IXV7	.;KLD8B_HUMAN	I	224	ENSP00000327468:V224I	ENSP00000327468:V224I	V	+	1	0	KLHDC8B	49187307	0.897000	0.30589	0.786000	0.31890	0.987000	0.75469	1.471000	0.35365	0.874000	0.35823	0.655000	0.94253	GTC		0.592	KLHDC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345974.1	NM_173546		A	49212303	G	A	49212303	3	1	679	1	0	0	0	0	1	0	0	0	8365	1145	40	1	680	1	KLHDC8B	3	49212303	Missense_Mutation	SNP	G	TCGA-IA-A40X-01A-11D-A25F-10	46002831	49212303	148810127	6	37420											
MAML3	55534	hgsc.bcm.edu	37	4	140811102	140811102	+	Silent	SNP	C	C	T			TCGA-IA-A40X-01A-11D-A25F-10	TCGA-IA-A40X-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e1217ebe-1826-41a9-b6c4-702100a66f5e	611a2445-8df1-4abd-bb6b-4954ee1dc47d	g.chr4:140811102C>T	ENST00000509479.2	-	2	2344	c.1488G>A	c.(1486-1488)caG>caA	p.Q496Q	MAML3_ENST00000327122.5_Silent_p.Q340Q|MAML3_ENST00000398940.1_Silent_p.Q35Q	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	0.542																																																0													13	19	17					4																	140811102		2124	4242	6366	SO:0001819	synonymous_variant	55534			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.1488G>A	chr4.hg19:g.140811102C>T				Silent	SNP	ENST00000509479.2	hg19	CCDS54805.1																																																																																				0.542	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			T	140811102	C	T	140811102	2	4	679	1	0	0	0	0	0	0	0	1	9209	796	28	2		2	MAML3	4	140811102	Silent	SNP	C	TCGA-IA-A40X-01A-11D-A25F-10		140811102	50343174	7	37421	283	2									
MAML3	55534	hgsc.bcm.edu	37	4	140811104	140811104	+	Missense_Mutation	SNP	G	G	T			TCGA-IA-A40X-01A-11D-A25F-10	TCGA-IA-A40X-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e1217ebe-1826-41a9-b6c4-702100a66f5e	611a2445-8df1-4abd-bb6b-4954ee1dc47d	g.chr4:140811104G>T	ENST00000509479.2	-	2	2342	c.1486C>A	c.(1486-1488)Cag>Aag	p.Q496K	MAML3_ENST00000327122.5_Missense_Mutation_p.Q340K|MAML3_ENST00000398940.1_Missense_Mutation_p.Q35K	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)					tgctgctgctgctgctgctgc	0.542																																																0													13	18	17					4																	140811104		2145	4254	6399	SO:0001583	missense	55534			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.1486C>A	chr4.hg19:g.140811104G>T	ENSP00000421180:p.Gln496Lys			Missense_Mutation	SNP	ENST00000509479.2	hg19	CCDS54805.1	.	.	.	.	.	.	.	.	.	.	g	6.502	0.460780	0.12342	.	.	ENSG00000196782	ENST00000509479;ENST00000327122;ENST00000398940	T;T	0.64260	0.89;-0.09	4.53	4.53	0.55603	.	0.116387	0.37577	N	0.002035	T	0.39937	0.1097	N	0.08118	0	0.32507	N	0.538137	B	0.22276	0.067	B	0.19391	0.025	T	0.35025	-0.9805	10	0.06494	T	0.89	.	17.2683	0.87093	0.0:0.0:1.0:0.0	.	496	Q96JK9	MAML3_HUMAN	K	496;340;35	ENSP00000421180:Q496K;ENSP00000313316:Q340K	ENSP00000313316:Q340K	Q	-	1	0	MAML3	141030554	0.998000	0.40836	0.988000	0.46212	0.665000	0.39181	0.180000	0.16860	2.038000	0.60285	0.455000	0.32223	CAG		0.542	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			T	140811104	G	T	140811104	3	4	679	1	0	0	0	0	1	0	0	0	9209	1328	46	4	1938	4	MAML3	4	140811104	Missense_Mutation	SNP	G	TCGA-IA-A40X-01A-11D-A25F-10	2	140811104	50343172	8	37422	283	2									
SLC6A19	340024	hgsc.bcm.edu	37	5	1219218	1219218	+	Silent	SNP	C	C	T			TCGA-IA-A40X-01A-11D-A25F-10	TCGA-IA-A40X-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e1217ebe-1826-41a9-b6c4-702100a66f5e	611a2445-8df1-4abd-bb6b-4954ee1dc47d	g.chr5:1219218C>T	ENST00000304460.10	+	9	1430	c.1374C>T	c.(1372-1374)ctC>ctT	p.L458L		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	458					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)			AGGAGGTGCTCACAGGTACGT	0.642																																																0													117	100	106					5																	1219218		2201	4298	6499	SO:0001819	synonymous_variant	340024			AK096054	CCDS34130.1	5p15	2013-07-19			ENSG00000174358	ENSG00000174358		"Solute carriers"	27960	protein-coding gene	gene with protein product	"Hartnup disease"	608893					Standard	NM_001003841		Approved		uc003jbw.4	Q695T7	OTTHUMG00000161636	ENST00000304460.10:c.1374C>T	chr5.hg19:g.1219218C>T			A8K446	Silent	SNP	ENST00000304460.10	hg19	CCDS34130.1																																																																																				0.642	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365557.1	XM_291120		T	1219218	C	T	1219218	2	4	679	1	0	0	0	0	0	0	0	1	14688	813	29	2		2	SLC6A19	5	1219218	Silent	SNP	C	TCGA-IA-A40X-01A-11D-A25F-10		1219218	179696042	9	37423											
LYRM4	57128	hgsc.bcm.edu	37	6	5260906	5260906	+	Nonsense_Mutation	SNP	T	T	A			TCGA-IA-A40X-01A-11D-A25F-10	TCGA-IA-A40X-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e1217ebe-1826-41a9-b6c4-702100a66f5e	611a2445-8df1-4abd-bb6b-4954ee1dc47d	g.chr6:5260906T>A	ENST00000330636.4	-	1	266	c.61A>T	c.(61-63)Aag>Tag	p.K21*	LYRM4_ENST00000500576.2_Nonsense_Mutation_p.K21*|LYRM4_ENST00000480566.1_Nonsense_Mutation_p.K21*|LYRM4_ENST00000468929.1_Nonsense_Mutation_p.K21*|FARS2_ENST00000274680.4_5'Flank|LYRM4_ENST00000464010.1_Nonsense_Mutation_p.K21*|FARS2_ENST00000324331.6_5'Flank	NM_020408.4	NP_065141.3	Q9HD34	LYRM4_HUMAN	LYR motif containing 4	21					small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)				endometrium(1)	1	Ovarian(93;0.11)	all_hematologic(90;0.0901)				CTGAAACGCTTGCTCTCTCTC	0.627																																					NSCLC(130;1006 2426 17608 36797)											0													25	24	24					6																	5260906		2161	4232	6393	SO:0001587	stop_gained	57128			AF258559	CCDS4493.1, CCDS54961.1	6p25.1	2008-02-05	2006-09-19	2006-09-19	ENSG00000214113	ENSG00000214113		"LYR motif containing"	21365	protein-coding gene	gene with protein product		613311	"chromosome 6 open reading frame 149"	C6orf149			Standard	XM_005249239		Approved	CGI-203, ISD11	uc021ykw.1	Q9HD34	OTTHUMG00000014173	ENST00000330636.4:c.61A>T	chr6.hg19:g.5260906T>A	ENSP00000418787:p.Lys21*		A8K543|Q5XKP1	Nonsense_Mutation	SNP	ENST00000330636.4	hg19	CCDS4493.1	.	.	.	.	.	.	.	.	.	.	T	40	8.023762	0.98616	.	.	ENSG00000214113	ENST00000468929;ENST00000330636;ENST00000464010;ENST00000480566;ENST00000500576	.	.	.	5.04	1.08	0.20341	.	0.185374	0.32753	U	0.005684	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	-6.0522	1.2294	0.01940	0.1825:0.1031:0.1903:0.5241	.	.	.	.	X	21	.	ENSP00000418787:K21X	K	-	1	0	LYRM4	5205905	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	0.725000	0.25970	1.898000	0.54952	0.533000	0.62120	AAG		0.627	LYRM4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353461.3	NM_020408		A	5260906	T	A	5260906	4	1	679	1	0	0	0	0	0	1	0	0	9123	1821	63	5	504	5	LYRM4	6	5260906	Nonsense_Mutation	SNP	T	TCGA-IA-A40X-01A-11D-A25F-10		5260906	165854161	10	37424											
C7orf31	136895	hgsc.bcm.edu	37	7	25182389	25182389	+	Missense_Mutation	SNP	T	T	G			TCGA-IA-A40X-01A-11D-A25F-10	TCGA-IA-A40X-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e1217ebe-1826-41a9-b6c4-702100a66f5e	611a2445-8df1-4abd-bb6b-4954ee1dc47d	g.chr7:25182389T>G	ENST00000409280.1	-	8	1037	c.729A>C	c.(727-729)aaA>aaC	p.K243N	C7orf31_ENST00000283905.3_Missense_Mutation_p.K243N			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	243										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						TTTTAGGAGGTTTTGGGTAGA	0.378																																																0													91	98	95					7																	25182389		2203	4300	6503	SO:0001583	missense	136895			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.729A>C	chr7.hg19:g.25182389T>G	ENSP00000386604:p.Lys243Asn		A4D165|Q6MZV8|Q6P989|Q7LE28|Q86XK1|Q8N1H5|Q96BN4	Missense_Mutation	SNP	ENST00000409280.1	hg19	CCDS5394.1	.	.	.	.	.	.	.	.	.	.	T	16.47	3.131855	0.56828	.	.	ENSG00000153790	ENST00000409280;ENST00000283905	T;T	0.08720	3.06;3.06	5.51	3.06	0.35304	.	0.133847	0.47093	D	0.000247	T	0.21267	0.0512	M	0.65975	2.015	0.30063	N	0.810728	D	0.76494	0.999	D	0.74674	0.984	T	0.03597	-1.1021	10	0.40728	T	0.16	-1.5455	7.6462	0.28321	0.0:0.3231:0.0:0.6769	.	243	Q8N865	CG031_HUMAN	N	243	ENSP00000386604:K243N;ENSP00000283905:K243N	ENSP00000283905:K243N	K	-	3	2	C7orf31	25148914	0.998000	0.40836	1.000000	0.80357	0.986000	0.74619	0.178000	0.16820	0.357000	0.24183	0.397000	0.26171	AAA		0.378	C7orf31-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326929.1	NM_138811		G	25182389	T	G	25182389	3	3	679	1	0	0	0	0	1	0	0	0	2389	1722	60	5	1055	5	C7orf31	7	25182389	Missense_Mutation	SNP	T	TCGA-IA-A40X-01A-11D-A25F-10		25182389	133956274	11	37425											
C9orf153	389766	hgsc.bcm.edu	37	9	88844472	88844472	+	Missense_Mutation	SNP	G	G	A			TCGA-IA-A40X-01A-11D-A25F-10	TCGA-IA-A40X-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e1217ebe-1826-41a9-b6c4-702100a66f5e	611a2445-8df1-4abd-bb6b-4954ee1dc47d	g.chr9:88844472G>A	ENST00000376001.3	-	2	127	c.47C>T	c.(46-48)gCc>gTc	p.A16V	C9orf153_ENST00000339137.3_Missense_Mutation_p.A16V|C9orf153_ENST00000469914.1_5'UTR	NM_001276366.1	NP_001263295.1	Q5TBE3	CI153_HUMAN	chromosome 9 open reading frame 153	16										breast(1)|lung(1)	2						AGGAAGGGTGGCTTCTCTATT	0.393																																																0													173	130	144					9																	88844472		2203	4300	6503	SO:0001583	missense	389766				CCDS35055.1, CCDS35055.2	9q22.1	2012-04-03			ENSG00000187753	ENSG00000187753			31456	protein-coding gene	gene with protein product							Standard	NM_001276366		Approved	bA507D14.1	uc031teh.1	Q5TBE3	OTTHUMG00000020134	ENST00000376001.3:c.47C>T	chr9.hg19:g.88844472G>A	ENSP00000365169:p.Ala16Val		Q5TBE4	Missense_Mutation	SNP	ENST00000376001.3	hg19	CCDS35055.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.166595	0.38217	.	.	ENSG00000187753	ENST00000339137;ENST00000376001	T;T	0.43294	0.95;0.95	3.33	-2.4	0.06583	.	1.675050	0.04061	N	0.306344	T	0.22704	0.0548	N	0.24115	0.695	0.09310	N	1	P;P	0.42584	0.784;0.642	B;B	0.33690	0.168;0.089	T	0.15093	-1.0449	10	0.52906	T	0.07	.	2.4955	0.04621	0.1061:0.1403:0.2414:0.5123	.	16;16	Q5TBE3;Q5TBE3-2	CI153_HUMAN;.	V	16	ENSP00000344865:A16V;ENSP00000365169:A16V	ENSP00000344865:A16V	A	-	2	0	C9orf153	88034292	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.853000	0.04303	-0.543000	0.06240	0.655000	0.94253	GCC		0.393	C9orf153-003	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052913.1	NM_001010907		A	88844472	G	A	88844472	3	1	679	1	0	0	0	0	1	0	0	0	2466	1203	42	2	270	2	C9orf153	9	88844472	Missense_Mutation	SNP	G	TCGA-IA-A40X-01A-11D-A25F-10		88844472	52368959	12	37426											
CTNNA3	29119	hgsc.bcm.edu	37	10	67726425	67726425	+	Missense_Mutation	SNP	C	C	T			TCGA-IA-A40X-01A-11D-A25F-10	TCGA-IA-A40X-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e1217ebe-1826-41a9-b6c4-702100a66f5e	611a2445-8df1-4abd-bb6b-4954ee1dc47d	g.chr10:67726425C>T	ENST00000433211.2	-	17	2519	c.2345G>A	c.(2344-2346)tGc>tAc	p.C782Y	CTNNA3_ENST00000373744.4_Missense_Mutation_p.C782Y|CTNNA3_ENST00000373735.1_5'UTR	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						AACTTGACTGCAGATTTTCAG	0.438																																																0													114	109	111					10																	67726425		2203	4300	6503	SO:0001583	missense	29119			AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.2345G>A	chr10.hg19:g.67726425C>T	ENSP00000389714:p.Cys782Tyr			Missense_Mutation	SNP	ENST00000433211.2	hg19	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.771295	0.69992	.	.	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000373735	T;T;T	0.37915	1.17;1.17;1.17	5.41	3.56	0.40772	.	0.000000	0.64402	D	0.000004	T	0.39911	0.1096	M	0.75447	2.3	0.80722	D	1	P	0.37500	0.597	B	0.38562	0.276	T	0.36383	-0.9750	10	0.72032	D	0.01	-1.9994	10.42	0.44344	0.0:0.8383:0.0:0.1617	.	782	Q9UI47	CTNA3_HUMAN	Y	782;782;121	ENSP00000389714:C782Y;ENSP00000362849:C782Y;ENSP00000362840:C121Y	ENSP00000362840:C121Y	C	-	2	0	CTNNA3	67396431	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	0.771000	0.33359	0.650000	0.86243	TGC		0.438	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		T	67726425	C	T	67726425	3	4	679	1	0	0	0	0	1	0	0	0	4016	710	25	2	350	2	CTNNA3	10	67726425	Missense_Mutation	SNP	C	TCGA-IA-A40X-01A-11D-A25F-10		67726425	67808322	13	37427											
NUP98	4928	hgsc.bcm.edu	37	11	3744474	3744474	+	Missense_Mutation	SNP	T	T	A			TCGA-IA-A40X-01A-11D-A25F-10	TCGA-IA-A40X-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e1217ebe-1826-41a9-b6c4-702100a66f5e	611a2445-8df1-4abd-bb6b-4954ee1dc47d	g.chr11:3744474T>A	ENST00000324932.7	-	16	2479	c.2059A>T	c.(2059-2061)Agc>Tgc	p.S687C	NUP98_ENST00000397004.4_Missense_Mutation_p.S687C|NUP98_ENST00000355260.3_Missense_Mutation_p.S687C|NUP98_ENST00000359171.4_Missense_Mutation_p.S687C|NUP98_ENST00000397007.4_Missense_Mutation_p.S704C	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	704					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)		TCTTCACTGCTTCCTTCCAGC	0.433			T	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"	AML																																		Dom	yes		11	11p15	4928	nucleoporin 98kDa		L	0													181	154	163					11																	3744474		2201	4298	6499	SO:0001583	missense	4928			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.2059A>T	chr11.hg19:g.3744474T>A	ENSP00000316032:p.Ser687Cys		Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	ENST00000324932.7	hg19	CCDS7746.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.985170	0.74474	.	.	ENSG00000110713	ENST00000324932;ENST00000359171;ENST00000355260;ENST00000397004;ENST00000397007	.	.	.	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.77046	0.4073	M	0.70275	2.135	0.53005	D	0.999969	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.85130	0.98;0.951;0.997;0.997	T	0.79546	-0.1759	9	0.62326	D	0.03	.	13.3986	0.60870	0.0:0.0:0.0:1.0	.	704;687;687;687	P52948-3;P52948-4;P52948-2;P52948-5	.;.;.;.	C	687;687;687;687;704	.	ENSP00000316032:S687C	S	-	1	0	NUP98	3701050	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.800000	0.62524	1.773000	0.52216	0.477000	0.44152	AGC		0.433	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320		A	3744474	T	A	3744474	3	1	679	1	0	0	0	0	1	0	0	0	10775	1609	56	5	3436	5	NUP98	11	3744474	Missense_Mutation	SNP	T	TCGA-IA-A40X-01A-11D-A25F-10		3744474	131262042	14	37428											
EFCAB4B	84766	hgsc.bcm.edu	37	12	3765545	3765545	+	Missense_Mutation	SNP	G	G	T			TCGA-IA-A40X-01A-11D-A25F-10	TCGA-IA-A40X-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e1217ebe-1826-41a9-b6c4-702100a66f5e	611a2445-8df1-4abd-bb6b-4954ee1dc47d	g.chr12:3765545G>T	ENST00000252322.1	-	9	1258	c.790C>A	c.(790-792)Caa>Aaa	p.Q264K	EFCAB4B_ENST00000440314.2_Missense_Mutation_p.Q264K|EFCAB4B_ENST00000444507.1_Missense_Mutation_p.Q264K	NM_032680.3	NP_116069.1	Q9BSW2	EFC4B_HUMAN		264					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)			TCCAGCTCTTGACTGCGGGCT	0.517																																																0													117	98	105					12																	3765545		2203	4300	6503	SO:0001583	missense	84766																														ENST00000252322.1:c.790C>A	chr12.hg19:g.3765545G>T	ENSP00000252322:p.Gln264Lys		B4E1X0|B9EK63	Missense_Mutation	SNP	ENST00000252322.1	hg19	CCDS8522.1	.	.	.	.	.	.	.	.	.	.	g	8.882	0.951842	0.18431	.	.	ENSG00000130038	ENST00000440314;ENST00000444507;ENST00000252322	T;T;T	0.21031	2.03;2.62;2.62	4.87	4.87	0.63330	.	0.650048	0.16394	N	0.216346	T	0.15003	0.0362	L	0.31294	0.92	0.27366	N	0.955823	B;B;B	0.22346	0.068;0.037;0.022	B;B;B	0.15484	0.006;0.013;0.006	T	0.10154	-1.0642	10	0.23302	T	0.38	-9.002	11.0361	0.47802	0.0:0.0:0.8142:0.1858	.	264;264;264	D7UEQ6;Q9BSW2-2;Q9BSW2	.;.;EFC4B_HUMAN	K	264	ENSP00000409382:Q264K;ENSP00000412496:Q264K;ENSP00000252322:Q264K	ENSP00000252322:Q264K	Q	-	1	0	EFCAB4B	3635806	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	3.957000	0.56730	2.385000	0.81259	0.556000	0.70494	CAA		0.517	EFCAB4B-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398673.1			T	3765545	G	T	3765545	3	4	679	1	0	0	0	0	1	0	0	0	4939	1299	45	4	1645	4	EFCAB4B	12	3765545	Missense_Mutation	SNP	G	TCGA-IA-A40X-01A-11D-A25F-10		3765545	130086350	15	37429											
IL21R	50615	hgsc.bcm.edu	37	16	27445763	27445763	+	Missense_Mutation	SNP	C	C	G			TCGA-IA-A40X-01A-11D-A25F-10	TCGA-IA-A40X-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e1217ebe-1826-41a9-b6c4-702100a66f5e	611a2445-8df1-4abd-bb6b-4954ee1dc47d	g.chr16:27445763C>G	ENST00000337929.3	+	3	618	c.145C>G	c.(145-147)Ctt>Gtt	p.L49V	IL21R_ENST00000395754.4_Missense_Mutation_p.L49V|IL21R_ENST00000564089.1_Missense_Mutation_p.L49V|IL21R_ENST00000395755.1_Missense_Mutation_p.L49V	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	49	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						CACGCTCACCCTTACCTGGTA	0.612			T	BCL6	NHL																																		Dom	yes		16	16p11	50615	interleukin 21 receptor		L	0													92	67	75					16																	27445763		2197	4300	6497	SO:0001583	missense	50615			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.145C>G	chr16.hg19:g.27445763C>G	ENSP00000338010:p.Leu49Val		A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Missense_Mutation	SNP	ENST00000337929.3	hg19	CCDS10630.1	.	.	.	.	.	.	.	.	.	.	c	3.641	-0.073506	0.07184	.	.	ENSG00000103522	ENST00000337929;ENST00000395755;ENST00000395754	D;D;D	0.97994	-4.65;-4.65;-4.65	4.39	0.877	0.19145	Fibronectin, type III (1);	55.521400	0.00166	N	0.000000	D	0.96272	0.8784	M	0.67953	2.075	0.80722	D	1	B	0.21225	0.053	B	0.17722	0.019	D	0.85799	0.1372	10	0.34782	T	0.22	-22.7421	6.3283	0.21257	0.3777:0.4383:0.184:0.0	.	49	Q9HBE5	IL21R_HUMAN	V	49	ENSP00000338010:L49V;ENSP00000379104:L49V;ENSP00000379103:L49V	ENSP00000338010:L49V	L	+	1	0	IL21R	27353264	0.011000	0.17503	0.032000	0.17829	0.011000	0.07611	0.263000	0.18478	0.530000	0.28619	0.555000	0.69702	CTT		0.612	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254578.2	NM_181078		G	27445763	C	G	27445763	3	3	679	1	0	0	0	0	1	0	0	0	7673	681	24	4	151	4	IL21R	16	27445763	Missense_Mutation	SNP	C	TCGA-IA-A40X-01A-11D-A25F-10		27445763	62908990	16	37430											
IL21R	50615	hgsc.bcm.edu	37	16	27459874	27459874	+	Missense_Mutation	SNP	T	T	C			TCGA-IA-A40X-01A-11D-A25F-10	TCGA-IA-A40X-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e1217ebe-1826-41a9-b6c4-702100a66f5e	611a2445-8df1-4abd-bb6b-4954ee1dc47d	g.chr16:27459874T>C	ENST00000337929.3	+	9	1360	c.887T>C	c.(886-888)tTc>tCc	p.F296S	IL21R_ENST00000395754.4_Missense_Mutation_p.F296S|IL21R_ENST00000564583.1_3'UTR|IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000564089.1_Missense_Mutation_p.F296S|IL21R_ENST00000395755.1_Missense_Mutation_p.F296S	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	296					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						GGTGCACCCTTCACTGGCTCC	0.547			T	BCL6	NHL																																		Dom	yes		16	16p11	50615	interleukin 21 receptor		L	0													16	19	18					16																	27459874		2177	4255	6432	SO:0001583	missense	50615			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.887T>C	chr16.hg19:g.27459874T>C	ENSP00000338010:p.Phe296Ser		A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Missense_Mutation	SNP	ENST00000337929.3	hg19	CCDS10630.1	.	.	.	.	.	.	.	.	.	.	T	10.95	1.495777	0.26774	.	.	ENSG00000103522	ENST00000337929;ENST00000395755;ENST00000395754	T;T;T	0.37411	1.2;1.2;1.2	5.24	2.9	0.33743	.	0.718376	0.13350	N	0.394470	T	0.26810	0.0656	M	0.64997	1.995	0.09310	N	1	P	0.41265	0.744	B	0.38327	0.271	T	0.17776	-1.0358	10	0.06365	T	0.9	-23.6851	4.7668	0.13135	0.1986:0.0:0.1808:0.6206	.	296	Q9HBE5	IL21R_HUMAN	S	296	ENSP00000338010:F296S;ENSP00000379104:F296S;ENSP00000379103:F296S	ENSP00000338010:F296S	F	+	2	0	IL21R	27367375	0.006000	0.16342	0.739000	0.30968	0.006000	0.05464	1.501000	0.35693	1.980000	0.57719	0.459000	0.35465	TTC		0.547	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254578.2	NM_181078		C	27459874	T	C	27459874	3	2	679	1	0	0	0	0	1	0	0	0	7673	1783	62	3	917	3	IL21R	16	27459874	Missense_Mutation	SNP	T	TCGA-IA-A40X-01A-11D-A25F-10	14111	27459874	62894879	17	37431											
GSDMA	284110	hgsc.bcm.edu	37	17	38121980	38121980	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IA-A40X-01A-11D-A25F-10	TCGA-IA-A40X-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e1217ebe-1826-41a9-b6c4-702100a66f5e	611a2445-8df1-4abd-bb6b-4954ee1dc47d	g.chr17:38121980C>T	ENST00000301659.4	+	2	158	c.40C>T	c.(40-42)Cag>Tag	p.Q14*		NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A	14					apoptotic process (GO:0006915)	perinuclear region of cytoplasm (GO:0048471)				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						CCTGGCCAGACAGCTAAACCC	0.577																																																0													54	59	57					17																	38121980		1971	4144	6115	SO:0001587	stop_gained	284110			AB093591	CCDS45669.1	17q21.2	2008-07-31	2008-07-31	2008-07-31		ENSG00000167914			13311	protein-coding gene	gene with protein product		611218	"gasdermin", "gasdermin 1"	GSDM, GSDM1		12883658, 15010812, 17350798	Standard	NM_178171		Approved	FLJ39120	uc002htl.1	Q96QA5		ENST00000301659.4:c.40C>T	chr17.hg19:g.38121980C>T	ENSP00000301659:p.Gln14*		Q32MC5|Q86VE7|Q8N1M6	Nonsense_Mutation	SNP	ENST00000301659.4	hg19	CCDS45669.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.360594	0.82353	.	.	ENSG00000167914	ENST00000301659	.	.	.	5.36	4.38	0.52667	.	0.211121	0.33346	N	0.005003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-11.3738	12.1468	0.54028	0.0:0.8276:0.1724:0.0	.	.	.	.	X	14	.	ENSP00000301659:Q14X	Q	+	1	0	GSDMA	35375506	1.000000	0.71417	0.998000	0.56505	0.663000	0.39108	2.821000	0.48065	1.254000	0.44035	0.462000	0.41574	CAG		0.577	GSDMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446847.1	NM_178171		T	38121980	C	T	38121980	4	4	679	1	0	0	0	0	0	1	0	0	6818	479	17	2	42	2	GSDMA	17	38121980	Nonsense_Mutation	SNP	C	TCGA-IA-A40X-01A-11D-A25F-10		38121980	43073230	18	37432											
TRIM37	4591	hgsc.bcm.edu	37	17	57134407	57134407	+	Missense_Mutation	SNP	T	T	C			TCGA-IA-A40X-01A-11D-A25F-10	TCGA-IA-A40X-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e1217ebe-1826-41a9-b6c4-702100a66f5e	611a2445-8df1-4abd-bb6b-4954ee1dc47d	g.chr17:57134407T>C	ENST00000262294.7	-	13	1287	c.1028A>G	c.(1027-1029)tAt>tGt	p.Y343C	TRIM37_ENST00000393065.2_Missense_Mutation_p.Y309C|TRIM37_ENST00000376149.3_Missense_Mutation_p.Y221C|RN7SL716P_ENST00000580539.1_RNA|TRIM37_ENST00000393066.3_Missense_Mutation_p.Y343C	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	343	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				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)					CTCTACACGATATTCATATCT	0.318									Mulibrey Nanism																																							0													63	61	62					17																	57134407		2203	4300	6503	SO:0001583	missense	4591	Familial Cancer Database	Perheentupa syndrome	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	7523	protein-coding gene	gene with protein product	"RING-B-box-coiled-coil protein"	605073	"tripartite motif-containing 37"	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.1028A>G	chr17.hg19:g.57134407T>C	ENSP00000262294:p.Tyr343Cys		Q7Z3E6|Q8IYF7|Q8WYF7	Missense_Mutation	SNP	ENST00000262294.7	hg19	CCDS32694.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.164224	0.78339	.	.	ENSG00000108395	ENST00000393066;ENST00000262294;ENST00000376149;ENST00000393065	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	5.43	5.43	0.79202	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.81635	0.4864	M	0.86420	2.815	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.943	D;D;P	0.87578	0.998;0.998;0.896	D	0.84579	0.0660	10	0.56958	D	0.05	-9.1299	15.4842	0.75551	0.0:0.0:0.0:1.0	.	309;221;343	F8WEE6;O94972-2;O94972	.;.;TRI37_HUMAN	C	343;343;221;309	ENSP00000376785:Y343C;ENSP00000262294:Y343C;ENSP00000365319:Y221C;ENSP00000376784:Y309C	ENSP00000262294:Y343C	Y	-	2	0	TRIM37	54489189	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.036000	0.88901	2.048000	0.60808	0.482000	0.46254	TAT		0.318	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445930.1	NM_015294		C	57134407	T	C	57134407	3	2	679	1	0	0	0	0	1	0	0	0	16516	1406	49	3	1922	3	TRIM37	17	57134407	Missense_Mutation	SNP	T	TCGA-IA-A40X-01A-11D-A25F-10	19012427	57134407	24060803	19	37433											
ZNF536	9745	hgsc.bcm.edu	37	19	30936011	30936011	+	Missense_Mutation	SNP	G	G	C			TCGA-IA-A40X-01A-11D-A25F-10	TCGA-IA-A40X-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e1217ebe-1826-41a9-b6c4-702100a66f5e	611a2445-8df1-4abd-bb6b-4954ee1dc47d	g.chr19:30936011G>C	ENST00000355537.3	+	2	1689	c.1542G>C	c.(1540-1542)gaG>gaC	p.E514D		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	514					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)					AGGCTGCGGAGATGGACCCCG	0.632																																																0													38	43	42					19																	30936011		2202	4299	6501	SO:0001583	missense	9745				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"Zinc fingers, C2H2-type"	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1542G>C	chr19.hg19:g.30936011G>C	ENSP00000347730:p.Glu514Asp		A2RU18	Missense_Mutation	SNP	ENST00000355537.3	hg19	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.833785	0.50951	.	.	ENSG00000198597	ENST00000355537	T	0.16743	2.32	5.53	2.25	0.28309	.	0.000000	0.85682	D	0.000000	T	0.33962	0.0881	M	0.64404	1.975	0.41871	D	0.99027	D;D	0.69078	0.997;0.997	D;D	0.72625	0.978;0.978	T	0.02020	-1.1228	10	0.51188	T	0.08	-39.7837	9.9979	0.41911	0.2217:0.0:0.7783:0.0	.	514;514	A7E228;O15090	.;ZN536_HUMAN	D	514	ENSP00000347730:E514D	ENSP00000347730:E514D	E	+	3	2	ZNF536	35627851	1.000000	0.71417	0.993000	0.49108	0.967000	0.64934	1.738000	0.38207	0.276000	0.22118	0.655000	0.94253	GAG		0.632	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		C	30936011	G	C	30936011	3	2	679	1	0	0	0	0	1	0	0	0	17979	933	33	4	1544	4	ZNF536	19	30936011	Missense_Mutation	SNP	G	TCGA-IA-A40X-01A-11D-A25F-10		30936011	28192972	20	37434											
KCNN4	3783	hgsc.bcm.edu	37	19	44278354	44278354	+	Missense_Mutation	SNP	C	C	T			TCGA-IA-A40X-01A-11D-A25F-10	TCGA-IA-A40X-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e1217ebe-1826-41a9-b6c4-702100a66f5e	611a2445-8df1-4abd-bb6b-4954ee1dc47d	g.chr19:44278354C>T	ENST00000262888.3	-	3	1068	c.673G>A	c.(673-675)Gtg>Atg	p.V225M		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	225					calcium ion transport (GO:0006816)|cell volume homeostasis (GO:0006884)|defense response (GO:0006952)|immune system process (GO:0002376)|phospholipid translocation (GO:0045332)|positive regulation of protein secretion (GO:0050714)|positive regulation of T cell receptor signaling pathway (GO:0050862)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|saliva secretion (GO:0046541)|stabilization of membrane potential (GO:0030322)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|membrane raft (GO:0045121)|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)|Intermediate conductance calcium-activated potassium channel activity (GO:0022894)|protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Enflurane(DB00228)|Halothane(DB01159)|Miconazole(DB01110)|Procaine(DB00721)|Quinine(DB00468)	CTCTCGGCCACGGACAGCACC	0.677											OREG0025535	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													17	19	18					19																	44278354		2196	4295	6491	SO:0001583	missense	3783			AF022797	CCDS12630.1	19q13.2	2012-07-05				ENSG00000104783		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6293	protein-coding gene	gene with protein product		602754				9380751, 9407042, 16382103	Standard	NM_002250		Approved	KCa3.1, hSK4, hKCa4, hIKCa1	uc002oxl.3	O15554		ENST00000262888.3:c.673G>A	chr19.hg19:g.44278354C>T	ENSP00000262888:p.Val225Met	922	Q53XR4	Missense_Mutation	SNP	ENST00000262888.3	hg19	CCDS12630.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.961648	0.74016	.	.	ENSG00000104783	ENST00000262888;ENST00000407385	T	0.24538	1.85	4.31	4.31	0.51392	Ion transport 2 (1);	0.149552	0.43416	D	0.000563	T	0.41834	0.1176	L	0.42245	1.32	0.40618	D	0.981731	D;D	0.76494	0.999;0.999	D;D	0.70487	0.969;0.961	T	0.36529	-0.9744	10	0.56958	D	0.05	-28.677	14.7241	0.69329	0.0:1.0:0.0:0.0	.	119;225	D1MQ10;O15554	.;KCNN4_HUMAN	M	225;93	ENSP00000262888:V225M	ENSP00000262888:V225M	V	-	1	0	KCNN4	48970194	0.982000	0.34865	0.985000	0.45067	0.977000	0.68977	2.272000	0.43373	2.104000	0.64026	0.478000	0.44815	GTG		0.677	KCNN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463598.1	NM_002250		T	44278354	C	T	44278354	3	4	679	1	0	0	0	0	1	0	0	0	8083	536	19	1	634	1	KCNN4	19	44278354	Missense_Mutation	SNP	C	TCGA-IA-A40X-01A-11D-A25F-10	13342343	44278354	14850629	21	37435											
C20orf185	359710	hgsc.bcm.edu	37	20	31660577	31660577	+	Missense_Mutation	SNP	A	A	G			TCGA-IA-A40X-01A-11D-A25F-10	TCGA-IA-A40X-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e1217ebe-1826-41a9-b6c4-702100a66f5e	611a2445-8df1-4abd-bb6b-4954ee1dc47d	g.chr20:31660577A>G	ENST00000375494.3	+	14	1379	c.1379A>G	c.(1378-1380)aAt>aGt	p.N460S		NM_182658.1	NP_872599.1	P59826	BPIB3_HUMAN	BPI fold containing family B, member 3	460					innate immune response (GO:0045087)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										AATTTTTCCAATTCAGTTCTG	0.473																																																0													156	143	148					20																	31660577		2203	4300	6503	SO:0001583	missense	359710			AF549189	CCDS13212.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186190	ENSG00000186190		"BPI fold containing"	16178	protein-coding gene	gene with protein product		615717	"chromosome 20 open reading frame 185"	C20orf185		11971875, 21787333	Standard	NM_182658		Approved	dJ726C3.4, LPLUNC3, RYA3	uc002wym.1	P59826	OTTHUMG00000032234	ENST00000375494.3:c.1379A>G	chr20.hg19:g.31660577A>G	ENSP00000364643:p.Asn460Ser		Q5TDX7	Missense_Mutation	SNP	ENST00000375494.3	hg19	CCDS13212.1	.	.	.	.	.	.	.	.	.	.	A	1.299	-0.605319	0.03717	.	.	ENSG00000186190	ENST00000375494	T	0.09255	3.0	4.64	-3.29	0.05017	.	0.321650	0.26258	N	0.025402	T	0.07638	0.0192	L	0.53561	1.675	0.24245	N	0.995343	B	0.02656	0.0	B	0.08055	0.003	T	0.41413	-0.9510	10	0.15499	T	0.54	0.023	6.6155	0.22774	0.4895:0.4045:0.106:0.0	.	460	P59826	BPIB3_HUMAN	S	460	ENSP00000364643:N460S	ENSP00000364643:N460S	N	+	2	0	BPIFB3	31124238	0.983000	0.35010	0.689000	0.30133	0.014000	0.08584	-0.057000	0.11768	-0.887000	0.03961	-1.064000	0.02280	AAT		0.473	BPIFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078654.2	NM_182658		G	31660577	A	G	31660577	3	3	679	1	0	0	0	0	1	0	0	0	2099	101	4	3	1433	3	C20orf185	20	31660577	Missense_Mutation	SNP	A	TCGA-IA-A40X-01A-11D-A25F-10		31660577	31364943	22	37436											
FAM83C	128876	hgsc.bcm.edu	37	20	33874582	33874582	+	Missense_Mutation	SNP	G	G	C			TCGA-IA-A40X-01A-11D-A25F-10	TCGA-IA-A40X-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e1217ebe-1826-41a9-b6c4-702100a66f5e	611a2445-8df1-4abd-bb6b-4954ee1dc47d	g.chr20:33874582G>C	ENST00000374408.3	-	4	2096	c.2000C>G	c.(1999-2001)tCt>tGt	p.S667C	EIF6_ENST00000462894.1_5'Flank|EIF6_ENST00000374443.3_5'Flank|EIF6_ENST00000374436.3_5'Flank|FAM83C-AS1_ENST00000429167.1_RNA|EIF6_ENST00000374450.3_5'Flank	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	667										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CTCATCCCCAGACCCAGCTCC	0.617																																																0													54	48	50					20																	33874582		2203	4300	6503	SO:0001583	missense	128876			AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998			16121	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 128"	C20orf128			Standard	NM_178468		Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332	ENST00000374408.3:c.2000C>G	chr20.hg19:g.33874582G>C	ENSP00000363529:p.Ser667Cys		Q14D67|Q5JWN6|Q8N276	Missense_Mutation	SNP	ENST00000374408.3	hg19	CCDS13251.1	.	.	.	.	.	.	.	.	.	.	G	9.533	1.111448	0.20714	.	.	ENSG00000125998	ENST00000374408	T	0.11385	2.78	4.93	3.99	0.46301	.	1.069840	0.07374	N	0.886296	T	0.15392	0.0371	L	0.59436	1.845	0.09310	N	1	P	0.50369	0.934	B	0.43916	0.436	T	0.23691	-1.0181	10	0.87932	D	0	-20.9594	6.8394	0.23955	0.0917:0.0:0.7235:0.1848	.	667	Q9BQN1	FA83C_HUMAN	C	667	ENSP00000363529:S667C	ENSP00000363529:S667C	S	-	2	0	FAM83C	33337996	0.485000	0.25972	0.025000	0.17156	0.218000	0.24690	2.726000	0.47302	1.235000	0.43724	0.462000	0.41574	TCT		0.617	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078854.3			C	33874582	G	C	33874582	3	2	679	1	0	0	0	0	1	0	0	0	5637	942	33	4	247	4	FAM83C	20	33874582	Missense_Mutation	SNP	G	TCGA-IA-A40X-01A-11D-A25F-10	2214005	33874582	29150938	23	37437											
TMPRSS3	64699	hgsc.bcm.edu	37	21	43802332	43802332	+	Missense_Mutation	SNP	G	G	C			TCGA-IA-A40X-01A-11D-A25F-10	TCGA-IA-A40X-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e1217ebe-1826-41a9-b6c4-702100a66f5e	611a2445-8df1-4abd-bb6b-4954ee1dc47d	g.chr21:43802332G>C	ENST00000291532.3	-	9	1749	c.794C>G	c.(793-795)cCc>cGc	p.P265R	TMPRSS3_ENST00000380399.1_Missense_Mutation_p.P349R|TMPRSS3_ENST00000398397.3_Missense_Mutation_p.P265R|TMPRSS3_ENST00000433957.2_Missense_Mutation_p.P265R|TMPRSS3_ENST00000398405.1_Missense_Mutation_p.P263R|TMPRSS3_ENST00000474596.1_5'UTR	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	265	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				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						CCATGACTTGGGGAGGTACAA	0.493																																																0													68	51	57					21																	43802332		2203	4300	6503	SO:0001583	missense	64699			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.794C>G	chr21.hg19:g.43802332G>C	ENSP00000291532:p.Pro265Arg		D3DSJ6|Q5USC7|Q6ZMC3	Missense_Mutation	SNP	ENST00000291532.3	hg19	CCDS13686.1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.853752	0.71719	.	.	ENSG00000160183	ENST00000291532;ENST00000433957;ENST00000398405;ENST00000380399;ENST00000398397	D;D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4;-2.4	4.8	4.8	0.61643	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.64402	D	0.000001	D	0.92984	0.7767	L	0.58428	1.81	0.53688	D	0.999975	D;D;P;D	0.76494	0.998;0.999;0.949;0.999	D;D;P;D	0.74348	0.977;0.983;0.803;0.982	D	0.92525	0.6028	9	.	.	.	.	17.8827	0.88845	0.0:0.0:1.0:0.0	.	265;265;265;263	P57727-3;P57727-5;P57727;B7WPR2	.;.;TMPS3_HUMAN;.	R	265;265;263;349;265	ENSP00000291532:P265R;ENSP00000411013:P265R;ENSP00000381442:P263R;ENSP00000369762:P349R;ENSP00000381434:P265R	.	P	-	2	0	TMPRSS3	42675401	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	7.925000	0.87563	2.213000	0.71641	0.655000	0.94253	CCC		0.493	TMPRSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195347.1			C	43802332	G	C	43802332	3	2	679	1	0	0	0	0	1	0	0	0	16253	1232	43	4	673	4	TMPRSS3	21	43802332	Missense_Mutation	SNP	G	TCGA-IA-A40X-01A-11D-A25F-10		43802332	4327563	24	37438											
MMP11	4320	hgsc.bcm.edu	37	22	24125618	24125618	+	Missense_Mutation	SNP	G	G	T			TCGA-IA-A40X-01A-11D-A25F-10	TCGA-IA-A40X-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e1217ebe-1826-41a9-b6c4-702100a66f5e	611a2445-8df1-4abd-bb6b-4954ee1dc47d	g.chr22:24125618G>T	ENST00000215743.3	+	8	1406	c.1354G>T	c.(1354-1356)Ggc>Tgc	p.G452C	AP000349.1_ENST00000598975.1_Silent_p.A176A	NM_005940.3	NP_005931.2	P24347	MMP11_HUMAN	matrix metallopeptidase 11 (stromelysin 3)	452					basement membrane organization (GO:0071711)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|negative regulation of fat cell differentiation (GO:0045599)|proteolysis (GO:0006508)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)			Marimastat(DB00786)	CTTCCTGCGCGGCCGCCTCTA	0.622																																																0													102	82	89					22																	24125618		2203	4300	6503	SO:0001583	missense	4320				CCDS13816.1	22q11.23	2008-06-11	2005-08-08		ENSG00000099953	ENSG00000099953			7157	protein-coding gene	gene with protein product		185261	"matrix metalloproteinase 11 (stromelysin 3)"	STMY3		1639418, 7657606, 12006591	Standard	NM_005940		Approved		uc002zxx.3	P24347	OTTHUMG00000150742	ENST00000215743.3:c.1354G>T	chr22.hg19:g.24125618G>T	ENSP00000215743:p.Gly452Cys		Q5FX24|Q6PEZ6|Q9UC26	Missense_Mutation	SNP	ENST00000215743.3	hg19	CCDS13816.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.383170	0.82792	.	.	ENSG00000099953	ENST00000215743	T	0.10382	2.88	4.73	4.73	0.59995	Hemopexin/matrixin (2);	0.049339	0.85682	D	0.000000	T	0.45915	0.1366	H	0.95004	3.61	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.61549	-0.7040	10	0.87932	D	0	.	17.3138	0.87217	0.0:0.0:1.0:0.0	.	452	P24347	MMP11_HUMAN	C	452	ENSP00000215743:G452C	ENSP00000215743:G452C	G	+	1	0	MMP11	22455618	1.000000	0.71417	0.971000	0.41717	0.995000	0.86356	7.028000	0.76470	2.649000	0.89929	0.650000	0.86243	GGC		0.622	MMP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319891.2	NM_005940		T	24125618	G	T	24125618	3	4	679	1	0	0	0	0	1	0	0	0	9652	1116	39	4	1384	4	MMP11	22	24125618	Missense_Mutation	SNP	G	TCGA-IA-A40X-01A-11D-A25F-10		24125618	27178948	25	37439											
VCX	26609	hgsc.bcm.edu	37	X	7811790	7811790	+	Silent	SNP	C	C	T	rs200229312		TCGA-IA-A40X-01A-11D-A25F-10	TCGA-IA-A40X-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e1217ebe-1826-41a9-b6c4-702100a66f5e	611a2445-8df1-4abd-bb6b-4954ee1dc47d	g.chrX:7811790C>T	ENST00000381059.3	+	3	573	c.354C>T	c.(352-354)agC>agT	p.S118S	VCX_ENST00000341408.4_Silent_p.S118S	NM_013452.2	NP_038480.2	Q9H320	VCX1_HUMAN	variable charge, X-linked	118	10 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.|Glu-rich.				chromatin organization (GO:0006325)|ribosome assembly (GO:0042255)|spermatogenesis (GO:0007283)	nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.S118S(1)		NS(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	10		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)				GTCAGGAGAGCGAGGTGGAAG	0.637																																																1	Substitution - coding silent(1)	endometrium(1)											54	67	62					X																	7811790		2129	4090	6219	SO:0001819	synonymous_variant	26609			AF167081	CCDS14128.1	Xp22.31	2008-02-05	2003-09-12		ENSG00000182583	ENSG00000182583			12667	protein-coding gene	gene with protein product		300229	"variable charge, X chromosome"			10607842, 10903929	Standard	NM_013452		Approved	VCX1, VCX10R, VCX-10r, VCX-B1	uc004crz.3	Q9H320	OTTHUMG00000028608	ENST00000381059.3:c.354C>T	chrX.hg19:g.7811790C>T			A0JNS5|Q4V774|Q9P0H3	Silent	SNP	ENST00000381059.3	hg19	CCDS14128.1																																																																																				0.637	VCX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071474.1	NM_013452		T	7811790	C	T	7811790	2	4	679	1	0	0	0	0	0	0	0	1	17147	767	27	1		1	VCX	23	7811790	Silent	SNP	C	TCGA-IA-A40X-01A-11D-A25F-10		7811790	147458770	26	37440											
VCX2	51480	hgsc.bcm.edu	37	X	8138172	8138173	+	In_Frame_Ins	INS	-	-	TCCTGACTCAGTGGTTCCTCCAGCTCGGCC			TCGA-IA-A40X-01A-11D-A25F-10	TCGA-IA-A40X-10A-01D-A25F-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e1217ebe-1826-41a9-b6c4-702100a66f5e	611a2445-8df1-4abd-bb6b-4954ee1dc47d	g.chrX:8138172_8138173insTCCTGACTCAGTGGTTCCTCCAGCTCGGCC	ENST00000317103.4	-	3	626_627	c.320_321insGGCCGAGCTGGAGGAACCACTGAGTCAGGA	c.(319-321)gag>gaGGCCGAGCTGGAGGAACCACTGAGTCAGGAg	p.107_107E>EAELEEPLSQE		NM_016378.2	NP_057462.2	Q9H322	VCX2_HUMAN	variable charge, X-linked 2	107	2 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.									endometrium(1)	1		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)				CCACCTCGCTCTCCTGACTCAG	0.653																																																0																																										SO:0001652	inframe_insertion	51480			AF159127	CCDS35200.1	Xp22.32	2008-02-05			ENSG00000177504	ENSG00000177504			18158	protein-coding gene	gene with protein product		300532				10607842	Standard	NM_016378		Approved	VCX-2r, VCX-2R	uc004csb.3	Q9H322	OTTHUMG00000021105	ENST00000317103.4:c.320_321insGGCCGAGCTGGAGGAACCACTGAGTCAGGA	chrX.hg19:g.8138172_8138173insTCCTGACTCAGTGGTTCCTCCAGCTCGGCC	Exception_encountered		A3KPB6|Q4V9T2|Q9P0H5	In_Frame_Ins	INS	ENST00000317103.4	hg19	CCDS35200.1																																																																																				0.653	VCX2-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055690.1	NM_016378		TCCTGACTCAGTGGTTCCTCCAGCTCGGCC	8138173	-	TCCTGACTCAGTGGTTCCTCCAGCTCGGCC	8138172	7	5	679	1	0	1	1	0	0	0	0	0	17148	912	32	0	102	0	VCX2	23	8138172	In_Frame_Ins	INS	-	TCGA-IA-A40X-01A-11D-A25F-10	326382	8138172	147132388	27	37441											
FAM48B1	100130302	hgsc.bcm.edu	37	X	24382384	24382385	+	IGR	DNP	GC	GC	AT			TCGA-IA-A40X-01A-11D-A25F-10	TCGA-IA-A40X-10A-01D-A25F-10	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e1217ebe-1826-41a9-b6c4-702100a66f5e	611a2445-8df1-4abd-bb6b-4954ee1dc47d	g.chrX:24382384_24382385GC>AT								AC004552.1 (15361 upstream) : PDK3 (100952 downstream)																							tgctgctgctgctgctgctgct	0.579																																																0																																										SO:0001628	intergenic_variant	100130302																															chrX.hg19:g.24382384_24382385delinsAT				Missense_Mutation	SNP		hg19																																																																																				0	0.579									AT	24382385	GC	AT	24382384	1	1	679	0	1	0	0	0	0	0	0	0	5575	1319	46	2		2	FAM48B1	23	24382384	IGR	DNP	GC	TCGA-IA-A40X-01A-11D-A25F-10	16244212	24382384	130888176	28	37442											
GAB3	139716	hgsc.bcm.edu	37	X	153908429	153908429	+	Missense_Mutation	SNP	A	A	G			TCGA-IA-A40X-01A-11D-A25F-10	TCGA-IA-A40X-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e1217ebe-1826-41a9-b6c4-702100a66f5e	611a2445-8df1-4abd-bb6b-4954ee1dc47d	g.chrX:153908429A>G	ENST00000369575.3	-	9	1655	c.1624T>C	c.(1624-1626)Tca>Cca	p.S542P	GAB3_ENST00000424127.2_Missense_Mutation_p.S543P|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	542					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)					GGGGCTGGTGATGCTGAATTG	0.488																																																0													205	201	202					X																	153908429		2203	4300	6503	SO:0001583	missense	139716			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.1624T>C	chrX.hg19:g.153908429A>G	ENSP00000358588:p.Ser542Pro		A6NHF8|E9PB44	Missense_Mutation	SNP	ENST00000369575.3	hg19	CCDS14760.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.60|17.60	3.430652|3.430652	0.62844|0.62844	.|.	.|.	ENSG00000160219|ENSG00000160219	ENST00000454973|ENST00000369575;ENST00000424127	.|T;T	.|0.28895	.|1.59;1.91	5.36|5.36	4.2|4.2	0.49525|0.49525	.|.	.|0.063412	.|0.64402	.|D	.|0.000004	T|T	0.54775|0.54775	0.1879|0.1879	M|M	0.84219|0.84219	2.685|2.685	0.52099|0.52099	D|D	0.999946|0.999946	.|D;D	.|0.76494	.|0.999;0.999	.|D;D	.|0.83275	.|0.996;0.996	T|T	0.55829|0.55829	-0.8079|-0.8079	5|10	.|0.72032	.|D	.|0.01	-5.3879|-5.3879	8.3095|8.3095	0.32062|0.32062	0.9048:0.0:0.0952:0.0|0.9048:0.0:0.0952:0.0	.|.	.|543;542	.|E9PB44;Q8WWW8	.|.;GAB3_HUMAN	T|P	23|542;543	.|ENSP00000358588:S542P;ENSP00000399588:S543P	.|ENSP00000358588:S542P	I|S	-|-	2|1	0|0	GAB3|GAB3	153561623|153561623	0.998000|0.998000	0.40836|0.40836	0.338000|0.338000	0.25549|0.25549	0.747000|0.747000	0.42532|0.42532	3.865000|3.865000	0.56033|0.56033	0.695000|0.695000	0.31675|0.31675	0.412000|0.412000	0.27726|0.27726	ATC|TCA		0.488	GAB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061192.2	NM_001081573		G	153908429	A	G	153908429	3	3	679	1	0	0	0	0	1	0	0	0	6152	333	12	3	144	3	GAB3	23	153908429	Missense_Mutation	SNP	A	TCGA-IA-A40X-01A-11D-A25F-10	129526045	153908429	1362131	29	37443											
VCAM1	7412	hgsc.bcm.edu	37	1	101198018	101198018	+	Missense_Mutation	SNP	C	C	G			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr1:101198018C>G	ENST00000294728.2	+	7	1671	c.1570C>G	c.(1570-1572)Ctg>Gtg	p.L524V	VCAM1_ENST00000347652.2_Missense_Mutation_p.L432V|VCAM1_ENST00000370119.4_Missense_Mutation_p.L462V|VCAM1_ENST00000370115.1_Missense_Mutation_p.L325V	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	524	Ig-like C2-type 6.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	TTCCTCCATCCTGGAGGAAGG	0.537																																																0													66	70	69					1																	101198018		2203	4300	6503	SO:0001583	missense	7412			M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Endogenous ligands"	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.1570C>G	chr1.hg19:g.101198018C>G	ENSP00000294728:p.Leu524Val		A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Missense_Mutation	SNP	ENST00000294728.2	hg19	CCDS773.1	.	.	.	.	.	.	.	.	.	.	C	2.960	-0.214840	0.06101	.	.	ENSG00000162692	ENST00000370119;ENST00000347652;ENST00000294728;ENST00000370115	T;T;T;T	0.11712	2.75;2.75;2.75;2.75	5.57	-3.82	0.04281	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.317042	0.32884	N	0.005531	T	0.00524	0.0017	N	0.01048	-1.04	0.09310	N	1	B;B;B	0.19706	0.001;0.038;0.0	B;B;B	0.23150	0.007;0.044;0.008	T	0.33675	-0.9859	10	0.02654	T	1	-0.0111	4.6967	0.12808	0.1001:0.1771:0.5014:0.2214	.	462;432;524	E9PDD1;P19320-2;P19320	.;.;VCAM1_HUMAN	V	462;432;524;325	ENSP00000359137:L462V;ENSP00000304611:L432V;ENSP00000294728:L524V;ENSP00000359133:L325V	ENSP00000294728:L524V	L	+	1	2	VCAM1	100970606	0.000000	0.05858	0.002000	0.10522	0.771000	0.43674	-1.681000	0.01937	-0.367000	0.08052	-0.140000	0.14226	CTG		0.537	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030213.1	NM_001078		G	101198018	C	G	101198018	3	3	680	1	0	0	0	0	1	0	0	0	17142	680	24	4	1596	4	VCAM1	1	101198018	Missense_Mutation	SNP	C	TCGA-IA-A40Y-01A-11D-A25F-10		101198018	148052603	1	37444											
TTC24	164118	hgsc.bcm.edu	37	1	156552861	156552861	+	Missense_Mutation	SNP	G	G	C			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr1:156552861G>C	ENST00000368237.3	+	3	938	c.938G>C	c.(937-939)gGc>gCc	p.G313A	TTC24_ENST00000478081.1_Intron|TTC24_ENST00000368236.3_Missense_Mutation_p.G313A			A2A3L6	TTC24_HUMAN	tetratricopeptide repeat domain 24	313										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	20	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGGGAGCAGGGCCGGAGCTTT	0.657																																																0													33	39	37					1																	156552861		2031	4169	6200	SO:0001583	missense	164118				CCDS53379.1	1q22	2013-01-10			ENSG00000187862	ENSG00000187862		"Tetratricopeptide (TTC) repeat domain containing"	32348	protein-coding gene	gene with protein product							Standard	NM_001105669		Approved		uc021pbf.1	A2A3L6	OTTHUMG00000033202	ENST00000368237.3:c.938G>C	chr1.hg19:g.156552861G>C	ENSP00000357220:p.Gly313Ala		Q5T3H7	Missense_Mutation	SNP	ENST00000368237.3	hg19	CCDS53379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.276|7.276	0.608179|0.608179	0.14002|0.14002	.|.	.|.	ENSG00000187862|ENSG00000187862	ENST00000340086;ENST00000413282|ENST00000368236;ENST00000368237	.|T;T	.|0.70869	.|-0.52;-0.52	4.72|4.72	4.72|4.72	0.59763|0.59763	.|Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	.|0.000000	.|0.48767	.|D	.|0.000175	T|T	0.56761|0.56761	0.2007|0.2007	L|L	0.33245|0.33245	0.995|0.995	0.37041|0.37041	D|D	0.897135|0.897135	.|D	.|0.62365	.|0.991	.|P	.|0.60541	.|0.876	T|T	0.59402|0.59402	-0.7461|-0.7461	5|10	.|0.02654	.|T	.|1	-14.4059|-14.4059	13.0458|13.0458	0.58925|0.58925	0.0:0.163:0.8369:0.0|0.0:0.163:0.8369:0.0	.|.	.|313	.|A2A3L6	.|TTC24_HUMAN	P|A	86;78|313	.|ENSP00000357219:G313A;ENSP00000357220:G313A	.|ENSP00000357219:G313A	A|G	+|+	1|2	0|0	TTC24|TTC24	154819485|154819485	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.445000|4.445000	0.60007|0.60007	2.474000|2.474000	0.83562|0.83562	0.455000|0.455000	0.32223|0.32223	GCC|GGC		0.657	TTC24-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158547.1	XM_089384		C	156552861	G	C	156552861	3	2	680	1	0	0	0	0	1	0	0	0	16697	1203	42	4	948	4	TTC24	1	156552861	Missense_Mutation	SNP	G	TCGA-IA-A40Y-01A-11D-A25F-10	55354843	156552861	92697760	2	37445											
SPTA1	6708	hgsc.bcm.edu	37	1	158596772	158596772	+	Missense_Mutation	SNP	T	T	C			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr1:158596772T>C	ENST00000368147.4	-	41	5870	c.5690A>G	c.(5689-5691)aAa>aGa	p.K1897R		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1897					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)					AGAAATCTCTTTGTTCTGACT	0.413																																																0													127	125	126					1																	158596772		1849	4090	5939	SO:0001583	missense	6708			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.5690A>G	chr1.hg19:g.158596772T>C	ENSP00000357129:p.Lys1897Arg		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	hg19	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	T	12.07	1.827369	0.32329	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.53640	0.61;0.61	4.87	3.73	0.42828	.	.	.	.	.	T	0.15435	0.0372	N	0.21448	0.665	0.29575	N	0.849575	B	0.02656	0.0	B	0.12837	0.008	T	0.14643	-1.0465	9	0.46703	T	0.11	.	8.4299	0.32750	0.3124:0.0:0.0:0.6876	.	1897	P02549	SPTA1_HUMAN	R	1897;1894	ENSP00000357130:K1897R;ENSP00000357129:K1894R	ENSP00000357129:K1894R	K	-	2	0	SPTA1	156863396	0.976000	0.34144	0.910000	0.35882	0.968000	0.65278	0.874000	0.28065	0.864000	0.35578	0.460000	0.39030	AAA		0.413	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		C	158596772	T	C	158596772	3	2	680	1	0	0	0	0	1	0	0	0	15121	1841	64	3	1617	3	SPTA1	1	158596772	Missense_Mutation	SNP	T	TCGA-IA-A40Y-01A-11D-A25F-10	2043911	158596772	90653849	3	37446											
OLFML2B	25903	hgsc.bcm.edu	37	1	161989778	161989778	+	Silent	SNP	C	C	G	rs138821383		TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr1:161989778C>G	ENST00000294794.3	-	2	792	c.369G>C	c.(367-369)tcG>tcC	p.S123S	OLFML2B_ENST00000367940.2_Silent_p.S123S	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	123					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)			GATTGAGGGCCGATGGGGGTG	0.592																																																0													69	68	68					1																	161989778		2203	4300	6503	SO:0001819	synonymous_variant	25903			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.369G>C	chr1.hg19:g.161989778C>G			B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Silent	SNP	ENST00000294794.3	hg19	CCDS1236.1																																																																																				0.592	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441		G	161989778	C	G	161989778	2	3	680	1	0	0	0	0	0	0	0	1	10860	639	23	4		4	OLFML2B	1	161989778	Silent	SNP	C	TCGA-IA-A40Y-01A-11D-A25F-10	3393006	161989778	87260843	4	37447											
HHIPL2	79802	hgsc.bcm.edu	37	1	222715413	222715413	+	Silent	SNP	G	G	A			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr1:222715413G>A	ENST00000343410.6	-	3	1117	c.1059C>T	c.(1057-1059)ttC>ttT	p.F353F		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	353					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)	p.F353F(1)		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)		CGTCCCCAGTGAATATGTACA	0.507																																																1	Substitution - coding silent(1)	stomach(1)											69	66	67					1																	222715413		2203	4300	6503	SO:0001819	synonymous_variant	79802			BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"KIAA1822-like"	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.1059C>T	chr1.hg19:g.222715413G>A			Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Silent	SNP	ENST00000343410.6	hg19	CCDS1530.2																																																																																				0.507	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746		A	222715413	G	A	222715413	2	1	680	1	0	0	0	0	0	0	0	1	7096	1281	45	2		2	HHIPL2	1	222715413	Silent	SNP	G	TCGA-IA-A40Y-01A-11D-A25F-10	60725635	222715413	26535208	5	37448											
RYR2	6262	hgsc.bcm.edu	37	1	237993878	237993878	+	Missense_Mutation	SNP	C	C	T			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr1:237993878C>T	ENST00000366574.2	+	103	15021	c.14704C>T	c.(14704-14706)Cca>Tca	p.P4902S	RYR2_ENST00000542537.1_Missense_Mutation_p.P4886S|RYR2_ENST00000360064.6_Missense_Mutation_p.P4908S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4902			P -> L (in CPVT1). {ECO:0000269|PubMed:14571276}.		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)			CGACACAGTGCCACATGGCTT	0.433																																																0													213	200	204					1																	237993878		1968	4170	6138	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.14704C>T	chr1.hg19:g.237993878C>T	ENSP00000355533:p.Pro4902Ser		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	hg19	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	34	5.362728	0.95877	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96774	-4.12;-4.08;-4.11	5.39	5.39	0.77823	.	0.000000	0.64402	D	0.000007	D	0.97539	0.9194	L	0.56280	1.765	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.98376	1.0556	10	0.87932	D	0	-8.5845	19.143	0.93452	0.0:1.0:0.0:0.0	.	4902	Q92736	RYR2_HUMAN	S	4902;4908;4886	ENSP00000355533:P4902S;ENSP00000353174:P4908S;ENSP00000443798:P4886S	ENSP00000353174:P4908S	P	+	1	0	RYR2	236060501	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.773000	0.85462	2.509000	0.84616	0.561000	0.74099	CCA		0.433	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		T	237993878	C	T	237993878	3	4	680	1	0	0	0	0	1	0	0	0	13775	739	26	2	15114	2	RYR2	1	237993878	Missense_Mutation	SNP	C	TCGA-IA-A40Y-01A-11D-A25F-10	15278465	237993878	11256743	6	37449											
CHRM3	1131	hgsc.bcm.edu	37	1	240072456	240072456	+	Missense_Mutation	SNP	C	C	T			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr1:240072456C>T	ENST00000255380.4	+	5	2484	c.1705C>T	c.(1705-1707)Cgc>Tgc	p.R569C		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	569					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	AAAAAAGAGGCGCAAGCAGCA	0.498																																																0													49	49	49					1																	240072456		2203	4300	6503	SO:0001583	missense	1131			U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1952	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 3"	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.1705C>T	chr1.hg19:g.240072456C>T	ENSP00000255380:p.Arg569Cys		Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Missense_Mutation	SNP	ENST00000255380.4	hg19	CCDS1616.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.593426	0.66219	.	.	ENSG00000133019	ENST00000255380	T	0.38887	1.11	5.58	5.58	0.84498	.	0.120714	0.51477	D	0.000092	T	0.58637	0.2136	L	0.58101	1.795	0.80722	D	1	D	0.89917	1.0	P	0.57324	0.818	T	0.60459	-0.7259	10	0.72032	D	0.01	-16.0194	19.5758	0.95444	0.0:1.0:0.0:0.0	.	569	P20309	ACM3_HUMAN	C	569	ENSP00000255380:R569C	ENSP00000255380:R569C	R	+	1	0	CHRM3	238139079	0.996000	0.38824	0.992000	0.48379	0.986000	0.74619	3.339000	0.52135	2.632000	0.89209	0.655000	0.94253	CGC		0.498	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	NM_000740		T	240072456	C	T	240072456	3	4	680	1	0	0	0	0	1	0	0	0	3380	768	27	1	1707	1	CHRM3	1	240072456	Missense_Mutation	SNP	C	TCGA-IA-A40Y-01A-11D-A25F-10	2078578	240072456	9178165	7	37450											
RAD51AP2	729475	hgsc.bcm.edu	37	2	17699184	17699184	+	Missense_Mutation	SNP	T	T	G			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr2:17699184T>G	ENST00000399080.2	-	1	522	c.499A>C	c.(499-501)Ata>Cta	p.I167L		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	167										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)					ATTCCATGTATATCGTGTATA	0.423																																																0													64	62	63					2																	17699184		1913	4131	6044	SO:0001583	missense	729475			AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842			34417	protein-coding gene	gene with protein product						16990250	Standard	NM_001099218		Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.499A>C	chr2.hg19:g.17699184T>G	ENSP00000382030:p.Ile167Leu			Missense_Mutation	SNP	ENST00000399080.2	hg19	CCDS42656.1	.	.	.	.	.	.	.	.	.	.	T	10.22	1.291283	0.23564	.	.	ENSG00000214842	ENST00000399080	T	0.30182	1.54	3.6	-4.94	0.03057	.	.	.	.	.	T	0.18509	0.0444	N	0.19112	0.55	0.09310	N	1	B	0.16396	0.017	B	0.16289	0.015	T	0.21690	-1.0238	9	0.48119	T	0.1	.	12.4465	0.55653	0.0:0.7287:0.0:0.2713	.	167	Q09MP3	R51A2_HUMAN	L	167	ENSP00000382030:I167L	ENSP00000382030:I167L	I	-	1	0	RAD51AP2	17562665	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.991000	0.00657	-1.048000	0.03238	-0.290000	0.09829	ATA		0.423	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323801.3	NM_001099218		G	17699184	T	G	17699184	3	3	680	1	0	0	0	0	1	0	0	0	12993	1406	49	5	2992	5	RAD51AP2	2	17699184	Missense_Mutation	SNP	T	TCGA-IA-A40Y-01A-11D-A25F-10		17699184	225500189	8	37451											
DNMT3A	1788	hgsc.bcm.edu	37	2	25458669	25458669	+	Missense_Mutation	SNP	G	G	A			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr2:25458669G>A	ENST00000264709.3	-	22	2841	c.2504C>T	c.(2503-2505)aCg>aTg	p.T835M	DNMT3A_ENST00000321117.5_Missense_Mutation_p.T835M|DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000402667.1_Missense_Mutation_p.T612M|DNMT3A_ENST00000380746.4_Missense_Mutation_p.T646M	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	835	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)					GTTTGACCTCGTAGTAATGGT	0.438			"Mis, F, N, S"		AML																																		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	0													171	155	160					2																	25458669		2203	4300	6503	SO:0001583	missense	1788				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2504C>T	chr2.hg19:g.25458669G>A	ENSP00000264709:p.Thr835Met		E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	ENST00000264709.3	hg19	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.953779	0.92660	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.97089	-4.24;-4.24;-4.24;-4.24	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.98617	0.9537	M	0.87827	2.91	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.991;0.997	D	0.99453	1.0941	10	0.72032	D	0.01	-6.841	18.1492	0.89669	0.0:0.0:1.0:0.0	.	835;646	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	M	646;835;835;612	ENSP00000370122:T646M;ENSP00000324375:T835M;ENSP00000264709:T835M;ENSP00000384237:T612M	ENSP00000264709:T835M	T	-	2	0	DNMT3A	25312173	1.000000	0.71417	0.993000	0.49108	0.988000	0.76386	9.697000	0.98697	2.717000	0.92951	0.650000	0.86243	ACG		0.438	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		A	25458669	G	A	25458669	3	1	680	1	0	0	0	0	1	0	0	0	4678	1145	40	1	242	1	DNMT3A	2	25458669	Missense_Mutation	SNP	G	TCGA-IA-A40Y-01A-11D-A25F-10	7759485	25458669	217740704	9	37452											
CEBPZ	10153	hgsc.bcm.edu	37	2	37430124	37430124	+	Missense_Mutation	SNP	T	T	A			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr2:37430124T>A	ENST00000234170.5	-	14	3057	c.2912A>T	c.(2911-2913)aAt>aTt	p.N971I	AC007390.5_ENST00000402297.1_3'UTR|AC007390.5_ENST00000406711.1_Intron|AC007390.5_ENST00000392061.2_Intron|AC007390.5_ENST00000397064.2_Intron	NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	971					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)				GCTGGAATCATTTAAGTTTCT	0.264																																																0													54	58	57					2																	37430124		2200	4294	6494	SO:0001583	missense	10153			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.2912A>T	chr2.hg19:g.37430124T>A	ENSP00000234170:p.Asn971Ile		Q8NE75	Missense_Mutation	SNP	ENST00000234170.5	hg19	CCDS1787.1	.	.	.	.	.	.	.	.	.	.	T	6.448	0.450836	0.12223	.	.	ENSG00000115816	ENST00000234170;ENST00000545744	T	0.14144	2.53	5.53	-1.96	0.07525	.	0.448282	0.25529	N	0.030057	T	0.11367	0.0277	L	0.44542	1.39	0.09310	N	1	B	0.26744	0.158	B	0.26517	0.07	T	0.16897	-1.0387	10	0.72032	D	0.01	.	11.4206	0.49978	0.0:0.2571:0.0:0.7429	.	971	Q03701	CEBPZ_HUMAN	I	971	ENSP00000234170:N971I	ENSP00000234170:N971I	N	-	2	0	CEBPZ	37283628	0.000000	0.05858	0.014000	0.15608	0.199000	0.23934	-0.102000	0.10956	-0.622000	0.05626	-0.400000	0.06385	AAT		0.264	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218569.2	NM_005760		A	37430124	T	A	37430124	3	1	680	1	0	0	0	0	1	0	0	0	3206	1493	52	5	264	5	CEBPZ	2	37430124	Missense_Mutation	SNP	T	TCGA-IA-A40Y-01A-11D-A25F-10	11971455	37430124	205769249	10	37453											
PREPL	9581	hgsc.bcm.edu	37	2	44566372	44566372	+	Nonsense_Mutation	SNP	G	G	A	rs145356495		TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr2:44566372G>A	ENST00000409936.1	-	7	1320	c.883C>T	c.(883-885)Cga>Tga	p.R295*	PREPL_ENST00000378511.3_Nonsense_Mutation_p.R295*|PREPL_ENST00000409411.1_Nonsense_Mutation_p.R206*|PREPL_ENST00000410081.1_Nonsense_Mutation_p.R295*|PREPL_ENST00000409957.1_Nonsense_Mutation_p.R206*|PREPL_ENST00000409272.1_Nonsense_Mutation_p.R295*|PREPL_ENST00000541738.1_Nonsense_Mutation_p.R206*|PREPL_ENST00000260648.6_Nonsense_Mutation_p.R295*|PREPL_ENST00000378520.3_Nonsense_Mutation_p.R295*	NM_001171606.1	NP_001165077.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	295						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CCATGTATTCGCTTCTGGATA	0.413																																																0								G	stop/ARG,stop/ARG,stop/ARG,stop/ARG,stop/ARG,stop/ARG,stop/ARG	0,4406		0,0,2203	113	109	110		883,883,883,883,616,616,883	3.4	1	2	dbSNP_134	110	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained,stop-gained,stop-gained,stop-gained,stop-gained,stop-gained	PREPL	NM_001042385.2,NM_001042386.2,NM_001171603.1,NM_001171606.1,NM_001171613.1,NM_001171617.1,NM_006036.4	,,,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,,,	295/666,295/662,295/728,295/728,206/639,206/639,295/728	44566372	1,13005	2203	4300	6503	SO:0001587	stop_gained	9581			AB007896	CCDS33190.1, CCDS42675.1, CCDS42676.1, CCDS54353.1	2p22.1	2008-02-05			ENSG00000138078	ENSG00000138078			30228	protein-coding gene	gene with protein product		609557				11524703	Standard	NM_006036		Approved	KIAA0436	uc002ruk.2	Q4J6C6	OTTHUMG00000152791	ENST00000409936.1:c.883C>T	chr2.hg19:g.44566372G>A	ENSP00000386543:p.Arg295*		A7E2X6|D6W5A3|O43163|Q4J6C3|Q4J6C4|Q4ZG39|Q6ZMW7|Q96DW7	Nonsense_Mutation	SNP	ENST00000409936.1	hg19	CCDS33190.1	.	.	.	.	.	.	.	.	.	.	G	36	5.741979	0.96873	0.0	1.16E-4	ENSG00000138078	ENST00000541738;ENST00000409411;ENST00000409957;ENST00000409936;ENST00000260648;ENST00000409272;ENST00000410081;ENST00000378520;ENST00000378511	.	.	.	5.46	3.39	0.38822	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.5424	14.6218	0.68592	0.0:0.0:0.6226:0.3774	.	.	.	.	X	206;206;206;295;295;295;295;295;295	.	ENSP00000260648:R295X	R	-	1	2	PREPL	44419876	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.377000	0.34317	1.221000	0.43506	0.650000	0.86243	CGA		0.413	PREPL-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327900.1	NM_006036		A	44566372	G	A	44566372	4	1	680	1	0	0	0	0	0	1	0	0	12480	1095	38	1	1336	1	PREPL	2	44566372	Nonsense_Mutation	SNP	G	TCGA-IA-A40Y-01A-11D-A25F-10	7136248	44566372	198633001	11	37454											
PREPL	9581	hgsc.bcm.edu	37	2	44566451	44566451	+	Silent	SNP	A	A	G			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr2:44566451A>G	ENST00000409936.1	-	7	1241	c.804T>C	c.(802-804)aaT>aaC	p.N268N	PREPL_ENST00000378511.3_Silent_p.N268N|PREPL_ENST00000409411.1_Silent_p.N179N|PREPL_ENST00000410081.1_Silent_p.N268N|PREPL_ENST00000409957.1_Silent_p.N179N|PREPL_ENST00000409272.1_Silent_p.N268N|PREPL_ENST00000541738.1_Silent_p.N179N|PREPL_ENST00000260648.6_Silent_p.N268N|PREPL_ENST00000378520.3_Silent_p.N268N	NM_001171606.1	NP_001165077.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	268						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TGTTCATAATATTTATGGTGA	0.413																																																0													84	79	81					2																	44566451		2203	4300	6503	SO:0001819	synonymous_variant	9581			AB007896	CCDS33190.1, CCDS42675.1, CCDS42676.1, CCDS54353.1	2p22.1	2008-02-05			ENSG00000138078	ENSG00000138078			30228	protein-coding gene	gene with protein product		609557				11524703	Standard	NM_006036		Approved	KIAA0436	uc002ruk.2	Q4J6C6	OTTHUMG00000152791	ENST00000409936.1:c.804T>C	chr2.hg19:g.44566451A>G			A7E2X6|D6W5A3|O43163|Q4J6C3|Q4J6C4|Q4ZG39|Q6ZMW7|Q96DW7	Silent	SNP	ENST00000409936.1	hg19	CCDS33190.1																																																																																				0.413	PREPL-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327900.1	NM_006036		G	44566451	A	G	44566451	2	3	680	1	0	0	0	0	0	0	0	1	12480	446	16	3		3	PREPL	2	44566451	Silent	SNP	A	TCGA-IA-A40Y-01A-11D-A25F-10	79	44566451	198632922	12	37455											
CCDC88A	55704	hgsc.bcm.edu	37	2	55561724	55561724	+	Missense_Mutation	SNP	T	T	G			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr2:55561724T>G	ENST00000436346.1	-	15	3074	c.2233A>C	c.(2233-2235)Aaa>Caa	p.K745Q	CCDC88A_ENST00000413716.2_Missense_Mutation_p.K745Q|CCDC88A_ENST00000336838.6_Missense_Mutation_p.K745Q|AC012358.8_ENST00000594078.1_RNA|CCDC88A_ENST00000263630.8_Missense_Mutation_p.K745Q|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000608103.1_RNA|AC012358.8_ENST00000599475.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	745					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						AAAGATGCTTTCAGGAGCTCC	0.363																																																0													91	93	92					2																	55561724		2202	4299	6501	SO:0001583	missense	55704			AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"Galpha-interacting vesicle-associated protein", "Akt-phosphorylation enhancer", "girdin", "girders of actin filaments"	609736	"KIAA1212"	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.2233A>C	chr2.hg19:g.55561724T>G	ENSP00000410608:p.Lys745Gln		A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	ENST00000436346.1	hg19		.	.	.	.	.	.	.	.	.	.	T	14.75	2.628283	0.46944	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000413716	T;T;T;T	0.17213	2.29;2.51;2.48;2.3	4.86	4.86	0.63082	.	0.126339	0.34725	U	0.003726	T	0.17238	0.0414	L	0.46885	1.475	0.80722	D	1	B;P;B;B;B	0.44478	0.061;0.836;0.018;0.009;0.031	B;B;B;B;B	0.40101	0.145;0.319;0.092;0.028;0.028	T	0.03130	-1.1069	10	0.29301	T	0.29	-11.7377	14.7941	0.69865	0.0:0.0:0.0:1.0	.	745;745;745;745;745	B7ZM78;Q3V6T2-2;Q3V6T2;Q3V6T2-3;Q3V6T2-4	.;.;GRDN_HUMAN;.;.	Q	745	ENSP00000338728:K745Q;ENSP00000263630:K745Q;ENSP00000410608:K745Q;ENSP00000404431:K745Q	ENSP00000263630:K745Q	K	-	1	0	CCDC88A	55415228	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	5.647000	0.67923	1.956000	0.56807	0.374000	0.22700	AAA		0.363	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571		G	55561724	T	G	55561724	3	3	680	1	0	0	0	0	1	0	0	0	2865	1792	62	5	3454	5	CCDC88A	2	55561724	Missense_Mutation	SNP	T	TCGA-IA-A40Y-01A-11D-A25F-10	10995273	55561724	187637649	13	37456											
MBD5	55777	hgsc.bcm.edu	37	2	149247732	149247732	+	Missense_Mutation	SNP	G	G	A			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr2:149247732G>A	ENST00000407073.1	+	12	4829	c.3832G>A	c.(3832-3834)Gag>Aag	p.E1278K	MBD5_ENST00000404807.1_Missense_Mutation_p.E1511K	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1278					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)		GAGTTTTAAGGAGAGACTAGA	0.413																																																0													61	62	61					2																	149247732		2203	4300	6503	SO:0001583	missense	55777			AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.3832G>A	chr2.hg19:g.149247732G>A	ENSP00000386049:p.Glu1278Lys		A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	ENST00000407073.1	hg19	CCDS33302.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.493136	0.84962	.	.	ENSG00000204406	ENST00000407073;ENST00000404807	T;T	0.63913	0.15;-0.07	5.89	5.89	0.94794	.	0.093845	0.46442	D	0.000287	T	0.68366	0.2993	N	0.24115	0.695	0.58432	D	0.999999	B;D	0.64830	0.302;0.994	B;P	0.61397	0.182;0.888	T	0.71421	-0.4598	10	0.87932	D	0	-2.9361	20.2363	0.98357	0.0:0.0:1.0:0.0	.	1511;1278	E9PHH0;Q9P267	.;MBD5_HUMAN	K	1278;1511	ENSP00000386049:E1278K;ENSP00000384672:E1511K	ENSP00000384672:E1511K	E	+	1	0	MBD5	148964202	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.039000	0.93777	2.789000	0.95967	0.655000	0.94253	GAG		0.413	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2			A	149247732	G	A	149247732	3	1	680	1	0	0	0	0	1	0	0	0	9349	1175	41	2	3858	2	MBD5	2	149247732	Missense_Mutation	SNP	G	TCGA-IA-A40Y-01A-11D-A25F-10	93686008	149247732	93951641	14	37457											
C2orf77	129881	hgsc.bcm.edu	37	2	170506849	170506849	+	Missense_Mutation	SNP	C	C	T			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr2:170506849C>T	ENST00000447353.1	-	7	1247	c.1142G>A	c.(1141-1143)cGa>cAa	p.R381Q		NM_001085447.1	NP_001078916.1	Q0VFZ6	CC173_HUMAN	coiled-coil domain containing 173	381																	CACAATGGCTCGATATTCTGC	0.338																																																0													86	76	79					2																	170506849		1811	4068	5879	SO:0001583	missense	129881			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.1142G>A	chr2.hg19:g.170506849C>T	ENSP00000391504:p.Arg381Gln		Q6PJF6	Missense_Mutation	SNP	ENST00000447353.1	hg19	CCDS46445.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.543115	0.86022	.	.	ENSG00000154479	ENST00000447353	T	0.15256	2.44	5.42	5.42	0.78866	.	.	.	.	.	T	0.41096	0.1144	M	0.71581	2.175	0.45946	D	0.998779	D	0.89917	1.0	D	0.87578	0.998	T	0.06267	-1.0836	9	0.30854	T	0.27	.	16.2096	0.82148	0.0:1.0:0.0:0.0	.	381	Q0VFZ6	CB077_HUMAN	Q	381	ENSP00000391504:R381Q	ENSP00000391504:R381Q	R	-	2	0	C2orf77	170215095	1.000000	0.71417	0.986000	0.45419	0.965000	0.64279	4.503000	0.60407	2.565000	0.86533	0.558000	0.71614	CGA		0.338	CCDC173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333954.2	NM_001085447		T	170506849	C	T	170506849	3	4	680	1	0	0	0	0	1	0	0	0	2196	884	31	1	528	1	C2orf77	2	170506849	Missense_Mutation	SNP	C	TCGA-IA-A40Y-01A-11D-A25F-10	21259117	170506849	72692524	15	37458											
SF3B1	23451	hgsc.bcm.edu	37	2	198265617	198265617	+	Missense_Mutation	SNP	G	G	A			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr2:198265617G>A	ENST00000335508.6	-	18	2631	c.2540C>T	c.(2539-2541)gCa>gTa	p.A847V	SF3B1_ENST00000462613.1_5'Flank	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	847					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)			TATAATTTCTGCTGCACCTAC	0.358			Mis		myelodysplastic syndrome																																		Dom	yes		2	2q33.1	23451	"splicing factor 3b, subunit 1, 155kDa"		L	0													99	97	98					2																	198265617		2203	4300	6503	SO:0001583	missense	23451			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.2540C>T	chr2.hg19:g.198265617G>A	ENSP00000335321:p.Ala847Val		E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	hg19	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	G	19.47	3.833082	0.71258	.	.	ENSG00000115524	ENST00000335508	T	0.65549	-0.16	5.77	5.77	0.91146	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.59622	0.2207	L	0.41961	1.31	0.80722	D	1	B	0.14438	0.01	B	0.18561	0.022	T	0.52917	-0.8511	10	0.48119	T	0.1	.	20.3626	0.98863	0.0:0.0:1.0:0.0	.	847	O75533	SF3B1_HUMAN	V	847	ENSP00000335321:A847V	ENSP00000335321:A847V	A	-	2	0	SF3B1	197973862	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.737000	0.98831	2.885000	0.99019	0.655000	0.94253	GCA		0.358	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			A	198265617	G	A	198265617	3	1	680	1	0	0	0	0	1	0	0	0	14155	1319	46	2	1406	2	SF3B1	2	198265617	Missense_Mutation	SNP	G	TCGA-IA-A40Y-01A-11D-A25F-10	27758768	198265617	44933756	16	37459											
PLEKHM3	389072	hgsc.bcm.edu	37	2	208725904	208725904	+	Missense_Mutation	SNP	C	C	G			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr2:208725904C>G	ENST00000427836.2	-	7	2522	c.2033G>C	c.(2032-2034)aGc>aCc	p.S678T	PLEKHM3_ENST00000389247.4_Missense_Mutation_p.S678T	NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	678					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						CCCCTTCTGGCTACAAAGACT	0.418																																																0													148	142	144					2																	208725904		1924	4136	6060	SO:0001583	missense	389072			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.2033G>C	chr2.hg19:g.208725904C>G	ENSP00000417003:p.Ser678Thr		B9EKV2|Q8WW68	Missense_Mutation	SNP	ENST00000427836.2	hg19	CCDS42808.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.28|15.28	2.787482|2.787482	0.49997|0.49997	.|.	.|.	ENSG00000178385|ENSG00000178385	ENST00000427836;ENST00000389247|ENST00000447645	D;D|.	0.83163|.	-1.68;-1.69|.	5.06|5.06	5.06|5.06	0.68205|0.68205	Protein kinase C-like, phorbol ester/diacylglycerol binding (1);|.	0.045109|.	0.85682|.	D|.	0.000000|.	T|.	0.55321|.	0.1913|.	N|N	0.21194|0.21194	0.64|0.64	0.52501|0.52501	D|D	0.999957|0.999957	P|.	0.39060|.	0.657|.	P|.	0.46585|.	0.521|.	T|.	0.48875|.	-0.8996|.	10|.	0.09084|.	T|.	0.74|.	.|.	18.9822|18.9822	0.92758|0.92758	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	678|.	Q6ZWE6|.	PKHM3_HUMAN|.	T|Y	678|429	ENSP00000417003:S678T;ENSP00000373899:S678T|.	ENSP00000373899:S678T|.	S|X	-|-	2|3	0|2	PLEKHM3|PLEKHM3	208434149|208434149	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	5.870000|5.870000	0.69620|0.69620	2.763000|2.763000	0.94921|0.94921	0.655000|0.655000	0.94253|0.94253	AGC|TAG		0.418	PLEKHM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337036.1	NM_001080475		G	208725904	C	G	208725904	3	3	680	1	0	0	0	0	1	0	0	0	12084	797	28	4	260	4	PLEKHM3	2	208725904	Missense_Mutation	SNP	C	TCGA-IA-A40Y-01A-11D-A25F-10	10460287	208725904	34473469	17	37460											
DGKD	8527	hgsc.bcm.edu	37	2	234368474	234368474	+	Silent	SNP	C	C	T			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr2:234368474C>T	ENST00000264057.2	+	23	2778	c.2766C>T	c.(2764-2766)gtC>gtT	p.V922V	DGKD_ENST00000409813.3_Silent_p.V878V	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	922					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)	AGGCCTGGGTCCAGCCGCCAG	0.602																																																0													76	66	69					2																	234368474		2203	4300	6503	SO:0001819	synonymous_variant	8527			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.2766C>T	chr2.hg19:g.234368474C>T			Q14158|Q6PK55|Q8NG53	Silent	SNP	ENST00000264057.2	hg19	CCDS2504.1																																																																																				0.602	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257072.2	NM_003648		T	234368474	C	T	234368474	2	4	680	1	0	0	0	0	0	0	0	1	4469	842	30	2		2	DGKD	2	234368474	Silent	SNP	C	TCGA-IA-A40Y-01A-11D-A25F-10	25642570	234368474	8830899	18	37461											
FANCD2	2177	hgsc.bcm.edu	37	3	10089633	10089633	+	Silent	SNP	G	G	A	rs564577177		TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr3:10089633G>A	ENST00000419585.1	+	16	1472	c.1311G>A	c.(1309-1311)tcG>tcA	p.S437S	FANCD2_ENST00000383806.1_Silent_p.S437S|FANCD2_ENST00000383807.1_Silent_p.S437S|FANCD2_ENST00000287647.3_Silent_p.S437S			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	437					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)		CCATTCTGTCGCTGGCTCAGA	0.408			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													yes	Rec		Fanconi anaemia D2	3	3p26	2177	"Fanconi anemia, complementation group D2"		L	0													171	174	173					3																	10089633		2203	4300	6503	SO:0001819	synonymous_variant	2177	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"Fanconi anemia, complementation groups"	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.1311G>A	chr3.hg19:g.10089633G>A			Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Silent	SNP	ENST00000419585.1	hg19	CCDS33696.1																																																																																				0.408	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1			A	10089633	G	A	10089633	2	1	680	1	0	0	0	0	0	0	0	1	5667	1074	38	1		1	FANCD2	3	10089633	Silent	SNP	G	TCGA-IA-A40Y-01A-11D-A25F-10		10089633	187932797	19	37462											
SCN11A	11280	hgsc.bcm.edu	37	3	38962716	38962716	+	Missense_Mutation	SNP	C	C	T			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr3:38962716C>T	ENST00000302328.3	-	6	941	c.743G>A	c.(742-744)cGc>cAc	p.R248H	SCN11A_ENST00000456224.3_Missense_Mutation_p.R248H|SCN11A_ENST00000444237.2_Missense_Mutation_p.R248H|SCN11A_ENST00000450244.1_Missense_Mutation_p.R248H	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	248					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)	CTTCACAGAGCGTAGCAAGGC	0.542																																																0													115	111	112					3																	38962716		2203	4300	6503	SO:0001583	missense	11280			AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10583	protein-coding gene	gene with protein product		604385	"sodium channel, voltage-gated, type XI, alpha polypeptide", "sodium channel, voltage-gated, type XII, alpha"	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.743G>A	chr3.hg19:g.38962716C>T	ENSP00000307599:p.Arg248His		A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	hg19	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	C	12.93	2.085095	0.36758	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.98701	-5.08;-5.08;-5.08;-5.08	4.67	3.79	0.43588	Ion transport (1);	0.217778	0.42964	D	0.000631	D	0.94729	0.8299	N	0.25332	0.735	0.32489	N	0.540524	B	0.26081	0.141	B	0.22880	0.042	D	0.92393	0.5923	10	0.16896	T	0.51	.	7.3286	0.26569	0.0:0.7983:0.0:0.2017	.	248	Q9UI33	SCNBA_HUMAN	H	248	ENSP00000307599:R248H;ENSP00000400945:R248H;ENSP00000416757:R248H;ENSP00000408028:R248H	ENSP00000307599:R248H	R	-	2	0	SCN11A	38937720	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	4.635000	0.61332	0.966000	0.38159	0.585000	0.79938	CGC		0.542	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		T	38962716	C	T	38962716	3	4	680	1	0	0	0	0	1	0	0	0	13919	768	27	1	4716	1	SCN11A	3	38962716	Missense_Mutation	SNP	C	TCGA-IA-A40Y-01A-11D-A25F-10	28873083	38962716	159059714	20	37463											
AADACL2	344752	hgsc.bcm.edu	37	3	151475280	151475280	+	Silent	SNP	T	T	C			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr3:151475280T>C	ENST00000356517.3	+	5	1213	c.1104T>C	c.(1102-1104)gaT>gaC	p.D368D	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	368						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)			ATATTGAGGATGGAATTCATG	0.338																																																0													97	95	96					3																	151475280		2203	4299	6502	SO:0001819	synonymous_variant	344752			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.1104T>C	chr3.hg19:g.151475280T>C			Q5HYJ4	Silent	SNP	ENST00000356517.3	hg19	CCDS3161.2																																																																																				0.338	AADACL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342288.3	NM_207365		C	151475280	T	C	151475280	2	2	680	1	0	0	0	0	0	0	0	1	11	1461	51	3		3	AADACL2	3	151475280	Silent	SNP	T	TCGA-IA-A40Y-01A-11D-A25F-10	112512564	151475280	46547150	21	37464											
SI	6476	hgsc.bcm.edu	37	3	164767590	164767590	+	Missense_Mutation	SNP	G	G	A			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr3:164767590G>A	ENST00000264382.3	-	14	1648	c.1586C>T	c.(1585-1587)cCg>cTg	p.P529L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	529	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)	AGGAGTAAACGGTGGATAATT	0.279										HNSCC(35;0.089)																																						0													90	100	97					3																	164767590		2203	4289	6492	SO:0001583	missense	6476			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"Oligosaccharide alpha-1,6-glucosidase"	609845	"sucrase-isomaltase"			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.1586C>T	chr3.hg19:g.164767590G>A	ENSP00000264382:p.Pro529Leu		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	hg19	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	G	19.18	3.778691	0.70107	.	.	ENSG00000090402	ENST00000264382	D	0.91686	-2.89	5.58	5.58	0.84498	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.97188	0.9081	M	0.93375	3.41	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	D	0.97952	1.0332	10	0.87932	D	0	.	18.5615	0.91101	0.0:0.0:1.0:0.0	.	529	P14410	SUIS_HUMAN	L	529	ENSP00000264382:P529L	ENSP00000264382:P529L	P	-	2	0	SI	166250284	1.000000	0.71417	1.000000	0.80357	0.394000	0.30568	9.114000	0.94329	2.622000	0.88805	0.585000	0.79938	CCG		0.279	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		A	164767590	G	A	164767590	3	1	680	1	0	0	0	0	1	0	0	0	14303	1116	39	1	4037	1	SI	3	164767590	Missense_Mutation	SNP	G	TCGA-IA-A40Y-01A-11D-A25F-10	13292310	164767590	33254840	22	37465											
KLB	152831	hgsc.bcm.edu	37	4	39439409	39439409	+	Missense_Mutation	SNP	G	G	C			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr4:39439409G>C	ENST00000257408.4	+	3	1496	c.1399G>C	c.(1399-1401)Gaa>Caa	p.E467Q		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	467	Glycosyl hydrolase-1 1.				carbohydrate metabolic process (GO:0005975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor binding (GO:0017134)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						GGATGGCTTTGAATGGCAGGA	0.428																																																0													189	178	182					4																	39439409		2203	4300	6503	SO:0001583	missense	152831			AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962			15527	protein-coding gene	gene with protein product		611135					Standard	NM_175737		Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.1399G>C	chr4.hg19:g.39439409G>C	ENSP00000257408:p.Glu467Gln		Q2M3K8	Missense_Mutation	SNP	ENST00000257408.4	hg19	CCDS3451.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.956339	0.92726	.	.	ENSG00000134962	ENST00000257408	T	0.41065	1.01	6.03	5.19	0.71726	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.095361	0.64402	D	0.000001	T	0.77239	0.4101	H	0.98446	4.235	0.51767	D	0.999938	D;D	0.76494	0.999;0.999	D;D	0.66716	0.946;0.946	D	0.86716	0.1939	10	0.87932	D	0	-28.1831	15.0523	0.71885	0.0674:0.0:0.9326:0.0	.	467;467	B7ZL50;Q86Z14	.;KLOTB_HUMAN	Q	467	ENSP00000257408:E467Q	ENSP00000257408:E467Q	E	+	1	0	KLB	39115804	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	1.562000	0.49601	0.655000	0.94253	GAA		0.428	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250429.1	NM_175737		C	39439409	G	C	39439409	3	2	680	1	0	0	0	0	1	0	0	0	8334	1291	45	4	1409	4	KLB	4	39439409	Missense_Mutation	SNP	G	TCGA-IA-A40Y-01A-11D-A25F-10		39439409	151714867	23	37466											
POLR2B	5431	hgsc.bcm.edu	37	4	57889646	57889646	+	Missense_Mutation	SNP	A	A	T			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr4:57889646A>T	ENST00000381227.1	+	20	3079	c.2666A>T	c.(2665-2667)aAg>aTg	p.K889M	POLR2B_ENST00000431623.2_Missense_Mutation_p.K814M|POLR2B_ENST00000314595.5_Missense_Mutation_p.K889M|POLR2B_ENST00000441246.2_Missense_Mutation_p.K882M			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	889					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					CGCTATACCAAGAGAGACTGT	0.413																																																0													108	104	105					4																	57889646		2203	4300	6503	SO:0001583	missense	5431				CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"RNA polymerase subunits"	9188	protein-coding gene	gene with protein product		180661	"polymerase (RNA) II (DNA directed) polypeptide B (140kD)"			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.2666A>T	chr4.hg19:g.57889646A>T	ENSP00000370625:p.Lys889Met		A8K1A8|Q8IZ61	Missense_Mutation	SNP	ENST00000381227.1	hg19	CCDS3511.1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.834179	0.91036	.	.	ENSG00000047315	ENST00000381227;ENST00000431623;ENST00000441246;ENST00000314595	T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6	6.04	6.04	0.98038	RNA polymerase Rpb2, OB-fold (1);DNA-directed RNA polymerase, subunit 2, domain 6 (1);	0.000000	0.85682	D	0.000000	D	0.88066	0.6337	M	0.93062	3.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90731	0.4642	10	0.87932	D	0	.	16.5885	0.84745	1.0:0.0:0.0:0.0	.	814;889	C9J4M6;P30876	.;RPB2_HUMAN	M	889;814;882;889	ENSP00000370625:K889M;ENSP00000391096:K814M;ENSP00000391452:K882M;ENSP00000312735:K889M	ENSP00000312735:K889M	K	+	2	0	POLR2B	57584403	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.317000	0.78254	0.460000	0.39030	AAG		0.413	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	NM_000938		T	57889646	A	T	57889646	3	4	680	1	0	0	0	0	1	0	0	0	12217	72	3	5	2740	5	POLR2B	4	57889646	Missense_Mutation	SNP	A	TCGA-IA-A40Y-01A-11D-A25F-10	18450237	57889646	133264630	24	37467											
GUCY1B3	2983	hgsc.bcm.edu	37	4	156724870	156724870	+	Missense_Mutation	SNP	T	T	G			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr4:156724870T>G	ENST00000264424.8	+	11	1590	c.1508T>G	c.(1507-1509)aTg>aGg	p.M503R	GUCY1B3_ENST00000507146.1_Missense_Mutation_p.M478R|GUCY1B3_ENST00000505154.1_Missense_Mutation_p.M435R|GUCY1B3_ENST00000513437.1_Missense_Mutation_p.M435R|GUCY1B3_ENST00000502959.1_Missense_Mutation_p.M525R|GUCY1B3_ENST00000505764.1_Missense_Mutation_p.M483R|GUCY1B3_ENST00000503520.1_Missense_Mutation_p.M470R	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	503	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)	cytoplasm (GO:0005737)|guanylate cyclase complex, soluble (GO:0008074)|intracellular membrane-bounded organelle (GO:0043231)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		GCCTTGGACATGATGGAAATT	0.423																																																0													76	79	78					4																	156724870		1960	4160	6120	SO:0001583	missense	2983			AF020340	CCDS47154.1, CCDS75203.1	4q31.3-q33	2008-03-18			ENSG00000061918	ENSG00000061918	4.6.1.2		4687	protein-coding gene	gene with protein product		139397		GUC1B3		1352257	Standard	XM_005262959		Approved	GC-SB3, GC-S-beta-1	uc003ipc.3	Q02153	OTTHUMG00000161698	ENST00000264424.8:c.1508T>G	chr4.hg19:g.156724870T>G	ENSP00000264424:p.Met503Arg		B7Z426|Q86WY5	Missense_Mutation	SNP	ENST00000264424.8	hg19	CCDS47154.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.327658	0.81690	.	.	ENSG00000061918	ENST00000505154;ENST00000502959;ENST00000505764;ENST00000507146;ENST00000264424;ENST00000503520;ENST00000513437	D;D;D;D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71	5.61	5.61	0.85477	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.93848	0.8032	H	0.96576	3.845	0.80722	D	1	P;P;D;P;P	0.58970	0.94;0.941;0.984;0.875;0.867	P;P;D;P;P	0.65010	0.735;0.86;0.931;0.517;0.735	D	0.95757	0.8797	10	0.87932	D	0	.	16.1025	0.81194	0.0:0.0:0.0:1.0	.	483;525;478;470;503	B7Z426;E9PCN2;D6RC99;Q02153-2;Q02153	.;.;.;.;GCYB1_HUMAN	R	435;525;483;478;503;470;435	ENSP00000427226:M435R;ENSP00000426786:M525R;ENSP00000426319:M483R;ENSP00000422313:M478R;ENSP00000264424:M503R;ENSP00000420842:M470R;ENSP00000425065:M435R	ENSP00000264424:M503R	M	+	2	0	GUCY1B3	156944320	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.990000	0.88215	2.254000	0.74563	0.533000	0.62120	ATG		0.423	GUCY1B3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365770.2			G	156724870	T	G	156724870	3	3	680	1	0	0	0	0	1	0	0	0	6897	1464	51	5	1550	5	GUCY1B3	4	156724870	Missense_Mutation	SNP	T	TCGA-IA-A40Y-01A-11D-A25F-10	98835224	156724870	34429406	25	37468											
DNAH5	1767	hgsc.bcm.edu	37	5	13771076	13771076	+	Missense_Mutation	SNP	G	G	T			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr5:13771076G>T	ENST00000265104.4	-	56	9491	c.9387C>A	c.(9385-9387)ttC>ttA	p.F3129L	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3129	AAA 4. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGGAAGTGAGGAAGTGTTCAG	0.388									Kartagener syndrome																																							0													63	60	61					5																	13771076		2203	4300	6503	SO:0001583	missense	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.9387C>A	chr5.hg19:g.13771076G>T	ENSP00000265104:p.Phe3129Leu		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	hg19	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.521574	0.44866	.	.	ENSG00000039139	ENST00000265104	T	0.54071	0.59	5.71	2.58	0.30949	Dynein heavy chain, P-loop containing D4 domain (1);	0.000000	0.85682	D	0.000000	T	0.67268	0.2875	M	0.89601	3.045	0.80722	D	1	B	0.31989	0.35	P	0.46585	0.521	T	0.68792	-0.5315	10	0.72032	D	0.01	.	7.8099	0.29226	0.1782:0.0:0.6883:0.1335	.	3129	Q8TE73	DYH5_HUMAN	L	3129	ENSP00000265104:F3129L	ENSP00000265104:F3129L	F	-	3	2	DNAH5	13824076	1.000000	0.71417	1.000000	0.80357	0.201000	0.24016	2.368000	0.44222	0.759000	0.33084	-0.152000	0.13540	TTC		0.388	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		T	13771076	G	T	13771076	3	4	680	1	0	0	0	0	1	0	0	0	4606	1165	41	4	4583	4	DNAH5	5	13771076	Missense_Mutation	SNP	G	TCGA-IA-A40Y-01A-11D-A25F-10		13771076	167144184	26	37469											
DDX4	54514	hgsc.bcm.edu	37	5	55110902	55110902	+	Missense_Mutation	SNP	G	G	A			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr5:55110902G>A	ENST00000505374.1	+	20	1981	c.1889G>A	c.(1888-1890)cGt>cAt	p.R630H	DDX4_ENST00000354991.5_Missense_Mutation_p.R596H|DDX4_ENST00000353507.5_Missense_Mutation_p.R596H|DDX4_ENST00000514278.2_Missense_Mutation_p.R610H|DDX4_ENST00000511853.1_Missense_Mutation_p.R481H	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	630	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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)				CGAATTGGGCGTACTGGTCGT	0.393																																																0													183	179	180					5																	55110902		2203	4300	6503	SO:0001583	missense	54514			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.1889G>A	chr5.hg19:g.55110902G>A	ENSP00000424838:p.Arg630His		A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	Missense_Mutation	SNP	ENST00000505374.1	hg19	CCDS3969.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.106807	0.56291	.	.	ENSG00000152670	ENST00000353507;ENST00000514278;ENST00000505374;ENST00000354991;ENST00000511853	D;D;D;D;D	0.99143	-5.48;-5.48;-5.48;-5.48;-5.48	5.69	3.83	0.44106	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.99576	0.9847	H	0.99042	4.41	0.47737	D	0.999505	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	0.97744	1.0210	10	0.87932	D	0	-18.9385	12.9225	0.58241	0.0:0.1242:0.7465:0.1293	.	610;481;596;630	D6RDK4;E9PCD8;Q9NQI0-2;Q9NQI0	.;.;.;DDX4_HUMAN	H	596;610;630;596;481	ENSP00000334167:R596H;ENSP00000425359:R610H;ENSP00000424838:R630H;ENSP00000347087:R596H;ENSP00000423123:R481H	ENSP00000334167:R596H	R	+	2	0	DDX4	55146659	1.000000	0.71417	0.997000	0.53966	0.125000	0.20455	7.630000	0.83225	1.390000	0.46547	-0.305000	0.09177	CGT		0.393	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214147.2	NM_024415		A	55110902	G	A	55110902	3	1	680	1	0	0	0	0	1	0	0	0	4362	1145	40	1	2004	1	DDX4	5	55110902	Missense_Mutation	SNP	G	TCGA-IA-A40Y-01A-11D-A25F-10	41339826	55110902	125804358	27	37470											
PCDHGA1	56114	hgsc.bcm.edu	37	5	140711698	140711698	+	Missense_Mutation	SNP	G	G	A			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr5:140711698G>A	ENST00000517417.1	+	1	1447	c.1447G>A	c.(1447-1449)Gag>Aag	p.E483K	AC005618.6_ENST00000606901.1_lincRNA|PCDHGA1_ENST00000378105.3_Missense_Mutation_p.E483K	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	483	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(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)			GGACAGCAATGAGAATGCACA	0.537																																																0													113	121	119					5																	140711698		2203	4300	6503	SO:0001583	missense	56114			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.1447G>A	chr5.hg19:g.140711698G>A	ENSP00000431083:p.Glu483Lys		Q2M273|Q9Y5D6	Missense_Mutation	SNP	ENST00000517417.1	hg19	CCDS54922.1	.	.	.	.	.	.	.	.	.	.	G	6.770	0.511030	0.12883	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.51574	4.68;0.7	3.82	2.91	0.33838	Cadherin (4);Cadherin-like (1);	0.321295	0.22123	N	0.064320	T	0.43523	0.1251	L	0.52266	1.64	0.09310	N	0.999999	B;B	0.14805	0.011;0.009	B;B	0.24701	0.049;0.055	T	0.42430	-0.9452	10	0.46703	T	0.11	.	12.8583	0.57899	0.0:0.3118:0.6881:0.0	.	483;483	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	K	483	ENSP00000431083:E483K;ENSP00000367345:E483K	ENSP00000367345:E483K	E	+	1	0	PCDHGA1	140691882	0.000000	0.05858	0.121000	0.21740	0.494000	0.33585	0.184000	0.16939	0.905000	0.36596	0.557000	0.71058	GAG		0.537	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		A	140711698	G	A	140711698	3	1	680	1	0	0	0	0	1	0	0	0	11552	1291	45	2	1449	2	PCDHGA1	5	140711698	Missense_Mutation	SNP	G	TCGA-IA-A40Y-01A-11D-A25F-10	85600796	140711698	40203562	28	37471											
FLT4	2324	hgsc.bcm.edu	37	5	180050943	180050943	+	Nonsense_Mutation	SNP	T	T	A			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr5:180050943T>A	ENST00000261937.6	-	11	1618	c.1540A>T	c.(1540-1542)Aag>Tag	p.K514*	FLT4_ENST00000393347.3_Nonsense_Mutation_p.K514*|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Nonsense_Mutation_p.K514*	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	514	Ig-like C2-type 5.				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)	ACCTTATTCTTTCCCTCCACA	0.602																																					Colon(97;1075 1466 27033 27547 35871)											0													95	82	87					5																	180050943		2203	4300	6503	SO:0001587	stop_gained	2324			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.1540A>T	chr5.hg19:g.180050943T>A	ENSP00000261937:p.Lys514*		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Nonsense_Mutation	SNP	ENST00000261937.6	hg19	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	T	39	7.440611	0.98286	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000376868	.	.	.	4.72	4.72	0.59763	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.8621	0.46833	0.0:0.0:0.2833:0.7166	.	.	.	.	X	514;514;514;324	.	ENSP00000261937:K514X	K	-	1	0	FLT4	179983549	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	3.078000	0.50096	1.906000	0.55180	0.459000	0.35465	AAG		0.602	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			A	180050943	T	A	180050943	4	1	680	1	0	0	0	0	0	1	0	0	5946	1850	64	5	2639	5	FLT4	5	180050943	Nonsense_Mutation	SNP	T	TCGA-IA-A40Y-01A-11D-A25F-10	39339245	180050943	864317	29	37472											
HIST1H2AE	3012	hgsc.bcm.edu	37	6	26217223	26217223	+	Missense_Mutation	SNP	A	A	T			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr6:26217223A>T	ENST00000303910.2	+	1	59	c.21A>T	c.(19-21)caA>caT	p.Q7H	HIST1H2BG_ENST00000244601.3_5'Flank	NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	7						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)				GTGGAAAGCAAGGCGGCAAAG	0.502																																																0													62	55	57					6																	26217223		2203	4300	6503	SO:0001583	missense	3012			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.21A>T	chr6.hg19:g.26217223A>T	ENSP00000303373:p.Gln7His		P28001|Q76P63	Missense_Mutation	SNP	ENST00000303910.2	hg19	CCDS4595.1	.	.	.	.	.	.	.	.	.	.	.	11.14	1.551016	0.27739	.	.	ENSG00000168274	ENST00000303910	T	0.42900	0.96	4.08	-4.32	0.03688	.	0.000000	0.32640	U	0.005837	T	0.14830	0.0358	N	0.17474	0.49	0.34285	D	0.682566	.	.	.	.	.	.	T	0.14811	-1.0459	8	0.66056	D	0.02	.	10.9427	0.47283	0.6741:0.0:0.3259:0.0	.	.	.	.	H	7	ENSP00000303373:Q7H	ENSP00000303373:Q7H	Q	+	3	2	HIST1H2AE	26325202	0.014000	0.17966	0.774000	0.31636	0.857000	0.48899	-1.328000	0.02680	-1.206000	0.02641	0.533000	0.62120	CAA		0.502	HIST1H2AE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040103.1	NM_021052		T	26217223	A	T	26217223	3	4	680	1	0	0	0	0	1	0	0	0	7134	69	3	5	23	5	HIST1H2AE	6	26217223	Missense_Mutation	SNP	A	TCGA-IA-A40Y-01A-11D-A25F-10		26217223	144897844	30	37473											
PKHD1	5314	hgsc.bcm.edu	37	6	51889790	51889790	+	Silent	SNP	G	G	A			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr6:51889790G>A	ENST00000371117.3	-	32	5093	c.4818C>T	c.(4816-4818)gtC>gtT	p.V1606V	PKHD1_ENST00000340994.4_Silent_p.V1606V	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1606	IPT/TIG 11.				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)					GGTCAATATAGACTGACGTGG	0.507																																																0													148	133	138					6																	51889790		2203	4300	6503	SO:0001819	synonymous_variant	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.4818C>T	chr6.hg19:g.51889790G>A			Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	hg19	CCDS4935.1																																																																																				0.507	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		A	51889790	G	A	51889790	2	1	680	1	0	0	0	0	0	0	0	1	11973	929	33	2		2	PKHD1	6	51889790	Silent	SNP	G	TCGA-IA-A40Y-01A-11D-A25F-10	25672567	51889790	119225277	31	37474											
PM20D2	135293	hgsc.bcm.edu	37	6	89859124	89859124	+	Silent	SNP	T	T	A			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr6:89859124T>A	ENST00000275072.4	+	2	701	c.606T>A	c.(604-606)gcT>gcA	p.A202A		NM_001010853.1	NP_001010853.1	Q8IYS1	P20D2_HUMAN	peptidase M20 domain containing 2	202						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|skin(1)	12		all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00813)		CAGATATGGCTGAACATGAGT	0.373																																																0													135	136	135					6																	89859124		2203	4300	6503	SO:0001819	synonymous_variant	135293			BC035036	CCDS34499.1	6q15	2014-07-14	2007-11-14	2007-11-14	ENSG00000146281	ENSG00000146281			21408	protein-coding gene	gene with protein product	"&#946;-alanyl-lysine dipeptidase"	615913	"aminoacylase 1-like 2"	ACY1L2		24891507	Standard	NM_001010853		Approved	bA63L7.3	uc003pmz.4	Q8IYS1	OTTHUMG00000015193	ENST00000275072.4:c.606T>A	chr6.hg19:g.89859124T>A			B4DYJ2|Q5T7J9|Q6MZV2|Q86XD9	Silent	SNP	ENST00000275072.4	hg19	CCDS34499.1																																																																																				0.373	PM20D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041477.1	NM_001010853		A	89859124	T	A	89859124	2	1	680	1	0	0	0	0	0	0	0	1	12131	1567	55	5		5	PM20D2	6	89859124	Silent	SNP	T	TCGA-IA-A40Y-01A-11D-A25F-10	37969334	89859124	81255943	32	37475											
HDDC2	51020	hgsc.bcm.edu	37	6	125619919	125619919	+	Missense_Mutation	SNP	C	C	T			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr6:125619919C>T	ENST00000398153.2	-	3	292	c.250G>A	c.(250-252)Gtt>Att	p.V84I	HDDC2_ENST00000608284.1_Missense_Mutation_p.V84I|HDDC2_ENST00000368377.4_Intron|HDDC2_ENST00000608295.1_Missense_Mutation_p.V84I	NM_016063.2	NP_057147.2	Q7Z4H3	HDDC2_HUMAN	HD domain containing 2	84	HD.					extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|lung(4)	6			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0186)		ATGTCCCCAACGATGCATTCT	0.413																																																0													190	168	175					6																	125619919		1925	4164	6089	SO:0001583	missense	51020			AF151888	CCDS43503.1	6q13-q24.3	2008-02-05	2005-08-22	2005-08-22	ENSG00000111906	ENSG00000111906			21078	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 74"	C6orf74		10810093	Standard	NM_016063		Approved	CGI-130, dJ167O5.2	uc003qaa.1	Q7Z4H3	OTTHUMG00000015506	ENST00000398153.2:c.250G>A	chr6.hg19:g.125619919C>T	ENSP00000381220:p.Val84Ile		Q5TDQ4|Q6NZ49|Q9BTT2|Q9BV31|Q9Y3D1	Missense_Mutation	SNP	ENST00000398153.2	hg19	CCDS43503.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.039411	0.93630	.	.	ENSG00000111906	ENST00000398153	T	0.43688	0.94	5.62	4.76	0.60689	Metal-dependent phosphohydrolase, HD domain (1);Metal-dependent phosphohydrolase, HD subdomain (1);HD domain (1);	0.000000	0.64402	U	0.000001	T	0.35770	0.0943	L	0.48877	1.53	0.80722	D	1	D	0.60575	0.988	P	0.51895	0.683	T	0.28004	-1.0057	10	0.59425	D	0.04	.	13.6517	0.62314	0.0:0.9242:0.0:0.0758	.	84	Q7Z4H3	HDDC2_HUMAN	I	84	ENSP00000381220:V84I	ENSP00000381220:V84I	V	-	1	0	HDDC2	125661618	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.426000	0.80270	1.527000	0.49086	0.655000	0.94253	GTT		0.413	HDDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472493.1	NM_016063		T	125619919	C	T	125619919	3	4	680	1	0	0	0	0	1	0	0	0	7018	536	19	1	380	1	HDDC2	6	125619919	Missense_Mutation	SNP	C	TCGA-IA-A40Y-01A-11D-A25F-10	35760795	125619919	45495148	33	37476											
SNX10	29887	hgsc.bcm.edu	37	7	26404687	26404687	+	Missense_Mutation	SNP	C	C	G			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr7:26404687C>G	ENST00000338523.4	+	5	420	c.233C>G	c.(232-234)tCt>tGt	p.S78C	SNX10_ENST00000409838.1_5'UTR|SNX10_ENST00000396376.1_Missense_Mutation_p.S78C|SNX10_ENST00000409367.1_Missense_Mutation_p.S38C|SNX10_ENST00000446848.2_Missense_Mutation_p.S104C	NM_001199835.1|NM_013322.2	NP_001186764.1|NP_037454.2	Q9Y5X0	SNX10_HUMAN	sorting nexin 10	78	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.|Required for the interaction with ATP6V1D.				cilium assembly (GO:0042384)|endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|osteoclast differentiation (GO:0030316)|protein localization to centrosome (GO:0071539)|protein localization to cilium (GO:0061512)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extrinsic component of endosome membrane (GO:0031313)|nucleus (GO:0005634)	1-phosphatidylinositol binding (GO:0005545)|ATPase binding (GO:0051117)			endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	6						GAACTTCCATCTAAAAACCTG	0.408											OREG0017908	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													58	61	60					7																	26404687		2203	4300	6503	SO:0001583	missense	29887			AF121860	CCDS5399.1, CCDS56470.1	7p15.2	2008-05-22			ENSG00000086300	ENSG00000086300		"Sorting nexins"	14974	protein-coding gene	gene with protein product		614780				17012226	Standard	NM_013322		Approved		uc010kuu.3	Q9Y5X0	OTTHUMG00000023650	ENST00000338523.4:c.233C>G	chr7.hg19:g.26404687C>G	ENSP00000343709:p.Ser78Cys	786	E9PFH5|Q8IYT5	Missense_Mutation	SNP	ENST00000338523.4	hg19	CCDS5399.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.333040	0.81801	.	.	ENSG00000086300	ENST00000416246;ENST00000338523;ENST00000446848;ENST00000396376;ENST00000409367	T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18	6.17	6.17	0.99709	Phox homologous domain (5);	0.052852	0.85682	D	0.000000	T	0.61540	0.2355	M	0.68952	2.095	0.47659	D	0.999481	D;D	0.76494	0.999;0.999	D;D	0.70487	0.969;0.917	T	0.57711	-0.7764	10	0.56958	D	0.05	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	104;78	B4DJM0;Q9Y5X0	.;SNX10_HUMAN	C	104;78;104;78;38	ENSP00000408164:S104C;ENSP00000343709:S78C;ENSP00000395474:S104C;ENSP00000379661:S78C;ENSP00000387274:S38C	ENSP00000343709:S78C	S	+	2	0	SNX10	26371212	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	6.525000	0.73795	2.941000	0.99782	0.655000	0.94253	TCT		0.408	SNX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214120.1			G	26404687	C	G	26404687	3	3	680	1	0	0	0	0	1	0	0	0	14887	913	32	4	247	4	SNX10	7	26404687	Missense_Mutation	SNP	C	TCGA-IA-A40Y-01A-11D-A25F-10		26404687	132733976	34	37477											
CCDC129	223075	hgsc.bcm.edu	37	7	31609394	31609394	+	Missense_Mutation	SNP	G	G	T			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr7:31609394G>T	ENST00000407970.3	+	5	317	c.279G>T	c.(277-279)atG>atT	p.M93I	CCDC129_ENST00000319386.3_Missense_Mutation_p.M93I|CCDC129_ENST00000409210.1_Start_Codon_SNP_p.M1I|CCDC129_ENST00000451887.2_Missense_Mutation_p.M119I|CCDC129_ENST00000482748.1_3'UTR	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	93										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						AACAAGGGATGGTTCAAATGA	0.373																																																0													119	101	107					7																	31609394		2203	4300	6503	SO:0001583	missense	223075			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.279G>T	chr7.hg19:g.31609394G>T	ENSP00000384416:p.Met93Ile		A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	hg19	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	G	13.03	2.116871	0.37339	.	.	ENSG00000180347	ENST00000409717;ENST00000456011;ENST00000319386;ENST00000407970;ENST00000454513;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T;T;T;T;T	0.39997	1.05;1.07;2.39;2.66;1.06;2.63;2.3	5.49	0.437	0.16555	.	0.576671	0.16859	N	0.196589	T	0.20373	0.0490	N	0.21448	0.665	0.20563	N	0.999888	B;B;B;B	0.20887	0.049;0.049;0.049;0.049	B;B;B;B	0.17433	0.008;0.018;0.018;0.018	T	0.18777	-1.0326	10	0.12766	T	0.61	-0.3883	3.0709	0.06230	0.1436:0.2578:0.4642:0.1344	.	119;103;93;93	F5H3V5;F5H2J8;Q6ZRS4;Q6ZRS4-2	.;.;CC129_HUMAN;.	I	93;93;93;93;93;119;103;1	ENSP00000387220:M93I;ENSP00000390544:M93I;ENSP00000313062:M93I;ENSP00000384416:M93I;ENSP00000413233:M93I;ENSP00000395835:M119I;ENSP00000387214:M1I	ENSP00000313062:M93I	M	+	3	0	CCDC129	31575919	0.999000	0.42202	0.971000	0.41717	0.937000	0.57800	0.316000	0.19469	-0.088000	0.12506	0.655000	0.94253	ATG		0.373	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		T	31609394	G	T	31609394	3	4	680	1	0	0	0	0	1	0	0	0	2766	1348	47	4	293	4	CCDC129	7	31609394	Missense_Mutation	SNP	G	TCGA-IA-A40Y-01A-11D-A25F-10	5204707	31609394	127529269	35	37478											
CFTR	1080	hgsc.bcm.edu	37	7	117267708	117267708	+	Missense_Mutation	SNP	G	G	T			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr7:117267708G>T	ENST00000003084.6	+	22	3733	c.3601G>T	c.(3601-3603)Gat>Tat	p.D1201Y	AC000111.6_ENST00000456270.1_RNA|CFTR_ENST00000454343.1_Missense_Mutation_p.D1140Y	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1201					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)	CGTGAAGAAAGATGACATCTG	0.413									Cystic Fibrosis																																							0													86	78	81					7																	117267708		2203	4300	6503	SO:0001583	missense	1080	Familial Cancer Database	CF	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.3601G>T	chr7.hg19:g.117267708G>T	ENSP00000003084:p.Asp1201Tyr		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	ENST00000003084.6	hg19	CCDS5773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.99|13.99	2.402264|2.402264	0.42613|0.42613	.|.	.|.	ENSG00000001626|ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809|ENST00000468795	D;D;D|D	0.93366|0.93366	-3.15;-2.96;-3.21|-3.21	5.86|5.86	2.07|2.07	0.26955|0.26955	.|.	0.549977|.	0.20348|.	N|.	0.094112|.	D|D	0.91140|0.91140	0.7210|0.7210	L|L	0.45581|0.45581	1.43|1.43	0.34472|0.34472	D|D	0.702874|0.702874	P|.	0.47409|.	0.895|.	B|.	0.43536|.	0.423|.	D|D	0.89511|0.89511	0.3771|0.3771	10|7	0.72032|0.66056	D|D	0.01|0.02	-3.7623|-3.7623	5.6055|5.6055	0.17377|0.17377	0.261:0.0:0.6124:0.1266|0.261:0.0:0.6124:0.1266	.|.	1201|.	P13569|.	CFTR_HUMAN|.	Y|N	1201;1140;1171|142	ENSP00000003084:D1201Y;ENSP00000403677:D1140Y;ENSP00000389119:D1171Y|ENSP00000419254:K142N	ENSP00000003084:D1201Y|ENSP00000419254:K142N	D|K	+|+	1|3	0|2	CFTR|CFTR	117054944|117054944	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.591000|0.591000	0.36615|0.36615	2.668000|2.668000	0.46816|0.46816	0.177000|0.177000	0.19895|0.19895	-0.142000|-0.142000	0.14014|0.14014	GAT|AAG		0.413	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492		T	117267708	G	T	117267708	3	4	680	1	0	0	0	0	1	0	0	0	3296	942	33	4	3687	4	CFTR	7	117267708	Missense_Mutation	SNP	G	TCGA-IA-A40Y-01A-11D-A25F-10	85658314	117267708	41870955	36	37479											
CCNE2	9134	hgsc.bcm.edu	37	8	95906316	95906316	+	Missense_Mutation	SNP	G	G	A			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr8:95906316G>A	ENST00000520509.1	-	3	298	c.46C>T	c.(46-48)Ccc>Tcc	p.P16S	CCNE2_ENST00000396133.3_Missense_Mutation_p.P16S|NDUFAF6_ENST00000396113.1_5'Flank|CCNE2_ENST00000523476.1_5'Flank|CCNE2_ENST00000308108.4_Missense_Mutation_p.P16S			O96020	CCNE2_HUMAN	cyclin E2	16					cell cycle checkpoint (GO:0000075)|cell division (GO:0051301)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					GTCTGGCTGGGCTGGGGCTGC	0.443																																																0													141	161	154					8																	95906316		2203	4300	6503	SO:0001583	missense	9134			AF091433	CCDS6264.1	8q22.1	2005-10-18			ENSG00000175305	ENSG00000175305			1590	protein-coding gene	gene with protein product		603775				9840927, 9840943	Standard	NM_057749		Approved	CYCE2	uc003yhc.3	O96020	OTTHUMG00000164696	ENST00000520509.1:c.46C>T	chr8.hg19:g.95906316G>A	ENSP00000429089:p.Pro16Ser		O95439	Missense_Mutation	SNP	ENST00000520509.1	hg19	CCDS6264.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.072843	0.36566	.	.	ENSG00000175305	ENST00000520509;ENST00000308108;ENST00000396133	T;T;T	0.30981	1.94;1.94;1.51	5.29	2.11	0.27256	.	0.268590	0.33980	N	0.004370	T	0.24470	0.0593	L	0.50333	1.59	0.30643	N	0.7563	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.24977	-1.0145	10	0.13853	T	0.58	.	11.6218	0.51121	0.0:0.1897:0.6789:0.1315	.	16;16	Q8WUE3;O96020	.;CCNE2_HUMAN	S	16	ENSP00000429089:P16S;ENSP00000309181:P16S;ENSP00000379437:P16S	ENSP00000309181:P16S	P	-	1	0	CCNE2	95975492	0.949000	0.32298	1.000000	0.80357	0.956000	0.61745	0.420000	0.21263	0.601000	0.29879	0.561000	0.74099	CCC		0.443	CCNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379808.1	NM_057749, NM_004702		A	95906316	G	A	95906316	3	1	680	1	0	0	0	0	1	0	0	0	2923	1203	42	2	1208	2	CCNE2	8	95906316	Missense_Mutation	SNP	G	TCGA-IA-A40Y-01A-11D-A25F-10		95906316	50457706	37	37480											
IFT74	80173	hgsc.bcm.edu	37	9	26962063	26962075	+	Frame_Shift_Del	DEL	GAAATATTCGAGT	GAAATATTCGAGT	-	rs200556379|rs542289534		TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10	GAAATATTCGAGT	GAAATATTCGAGT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr9:26962063_26962075delGAAATATTCGAGT	ENST00000443698.1	+	2	269_281	c.98_110delGAAATATTCGAGT	c.(97-111)ggaaatattcgagtgfs	p.GNIRV33fs	IFT74_ENST00000433700.1_Frame_Shift_Del_p.GNIRV33fs|IFT74_ENST00000380062.5_Frame_Shift_Del_p.GNIRV33fs|IFT74_ENST00000429045.2_Frame_Shift_Del_p.GNIRV33fs	NM_001099222.1	NP_001092692.1	Q96LB3	IFT74_HUMAN	intraflagellar transport 74	33	Basic region.				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)		CCCCTATCAGGAAATATTCGAGTGGCAACTGCA	0.493																																																0																																										SO:0001589	frameshift_variant	80173			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.98_110delGAAATATTCGAGT	chr9.hg19:g.26962063_26962075delGAAATATTCGAGT	ENSP00000404122:p.Gly33fs		Q3B789|Q5VY34|Q6PGQ8|Q9H643|Q9H8G7	Frame_Shift_Del	DEL	ENST00000443698.1	hg19	CCDS43793.1																																																																																				0.493	IFT74-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055476.2	NM_025103		-	26962075	GAAATATTCGAGT	-	26962063	7	5	680	1	0	1	0	1	0	0	0	0	7565	1174	41	0	100	0	IFT74	9	26962063	Frame_Shift_Del	DEL	GAAATATTCGAGT	TCGA-IA-A40Y-01A-11D-A25F-10		26962063	114251368	38	37481											
ALAD	210	hgsc.bcm.edu	37	9	116153879	116153879	+	Silent	SNP	C	C	T			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr9:116153879C>T	ENST00000409155.3	-	4	385	c.189G>A	c.(187-189)gaG>gaA	p.E63E	ALAD_ENST00000482001.1_5'UTR|ALAD_ENST00000277315.5_Silent_p.E46E	NM_000031.5	NP_000022.3	P13716	HEM2_HUMAN	aminolevulinate dehydratase	63					cellular response to interleukin-4 (GO:0071353)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protein homooligomerization (GO:0051260)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|identical protein binding (GO:0042802)|lead ion binding (GO:0032791)|porphobilinogen synthase activity (GO:0004655)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|stomach(1)	9					Aminolevulinic acid(DB00855)	GCCTCAGCATCTCTTCCAGCC	0.577																																																0													82	75	77					9																	116153879		2203	4300	6503	SO:0001819	synonymous_variant	210			M13928	CCDS6794.2	9q32	2010-04-29	2010-04-29		ENSG00000148218	ENSG00000148218	4.2.1.24		395	protein-coding gene	gene with protein product	"porphobilinogen synthase"	125270	"aminolevulinate, delta-, dehydratase"			6839527, 6378062	Standard	NM_000031		Approved	ALADH, PBGS	uc011lxf.2	P13716	OTTHUMG00000020522	ENST00000409155.3:c.189G>A	chr9.hg19:g.116153879C>T			A8K375|B2R6F2|Q16870|Q16871|Q9BVQ9	Silent	SNP	ENST00000409155.3	hg19	CCDS6794.2																																																																																				0.577	ALAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053724.3	NM_001003945		T	116153879	C	T	116153879	2	4	680	1	0	0	0	0	0	0	0	1	483	912	32	2		2	ALAD	9	116153879	Silent	SNP	C	TCGA-IA-A40Y-01A-11D-A25F-10	89191816	116153879	25059552	39	37482											
PHF19	26147	hgsc.bcm.edu	37	9	123620475	123620475	+	Missense_Mutation	SNP	C	C	T	rs144405933		TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr9:123620475C>T	ENST00000373896.3	-	15	1742	c.1490G>A	c.(1489-1491)cGc>cAc	p.R497H	PHF19_ENST00000419155.1_Missense_Mutation_p.R288H|PHF19_ENST00000487555.1_5'UTR	NM_015651.1	NP_056466.1	Q5T6S3	PHF19_HUMAN	PHD finger protein 19	497					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						CGAGGGGCAGCGTCCATCCAG	0.597																																																0								C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	79	71	74		1490	3	0.6	9	dbSNP_134	74	0,8600		0,0,4300	no	missense	PHF19	NM_015651.1	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	497/581	123620475	1,13005	2203	4300	6503	SO:0001583	missense	26147			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.1490G>A	chr9.hg19:g.123620475C>T	ENSP00000363003:p.Arg497His		Q32NF2|Q5T6S4|Q6N038|Q8TBL6|Q9UFS9	Missense_Mutation	SNP	ENST00000373896.3	hg19	CCDS35116.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.059942	0.76074	2.27E-4	0.0	ENSG00000119403	ENST00000544082;ENST00000373896;ENST00000419155	T;T	0.49432	1.79;0.78	4.97	3.03	0.35002	.	0.659654	0.15009	N	0.285669	T	0.39627	0.1085	N	0.24115	0.695	0.36632	D	0.876372	D	0.67145	0.996	P	0.49502	0.613	T	0.36841	-0.9731	10	0.45353	T	0.12	-8.0699	9.2722	0.37679	0.0:0.8127:0.0:0.1873	.	497	Q5T6S3	PHF19_HUMAN	H	497;497;288	ENSP00000363003:R497H;ENSP00000407433:R288H	ENSP00000363003:R497H	R	-	2	0	PHF19	122660296	0.728000	0.28080	0.574000	0.28523	0.897000	0.52465	0.193000	0.17116	0.449000	0.26747	-0.367000	0.07326	CGC		0.597	PHF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053838.3	XM_045308		T	123620475	C	T	123620475	3	4	680	1	0	0	0	0	1	0	0	0	11831	768	27	1	256	1	PHF19	9	123620475	Missense_Mutation	SNP	C	TCGA-IA-A40Y-01A-11D-A25F-10	7466596	123620475	17592956	40	37483											
FUBP3	8939	hgsc.bcm.edu	37	9	133501892	133501892	+	Splice_Site	SNP	G	G	A			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr9:133501892G>A	ENST00000319725.9	+	12	1192	c.1117G>A	c.(1117-1119)Ggg>Agg	p.G373R		NM_003934.1	NP_003925.1	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	373	KH 4. {ECO:0000255|PROSITE- ProRule:PRU00117}.				positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		CATAGGCAAAGGTAAGAGGCA	0.607											OREG0019546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													65	74	71					9																	133501892		2024	4189	6213	SO:0001630	splice_region_variant	8939			U69127	CCDS43893.1	9q34.11	2008-02-05			ENSG00000107164	ENSG00000107164			4005	protein-coding gene	gene with protein product		603536		FBP3		8940189	Standard	NM_003934		Approved		uc004bzr.1	Q96I24	OTTHUMG00000020809	ENST00000319725.9:c.1117+1G>A	chr9.hg19:g.133501892G>A		1603	A3KFK8|A3KFL0|Q92946|Q9BVB6	Missense_Mutation	SNP	ENST00000319725.9	hg19	CCDS43893.1	.	.	.	.	.	.	.	.	.	.	G	34	5.383763	0.95967	.	.	ENSG00000107164	ENST00000319725	T	0.39592	1.07	5.52	5.52	0.82312	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.70587	0.3241	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	0.74688	-0.3581	10	0.56958	D	0.05	-18.5882	18.4484	0.90695	0.0:0.0:1.0:0.0	.	373;373	A3KFK8;Q96I24	.;FUBP3_HUMAN	R	373	ENSP00000318177:G373R	ENSP00000318177:G373R	G	+	1	0	FUBP3	132491713	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.869000	0.99810	2.590000	0.87494	0.655000	0.94253	GGG		0.607	FUBP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054666.1		Missense_Mutation	A	133501892	G	A	133501892	5	1	680	1	0	0	0	0	0	0	1	0	6095	1014	35	2	1163	2	FUBP3	9	133501892	Splice_Site	SNP	G	TCGA-IA-A40Y-01A-11D-A25F-10	9881417	133501892	7711539	41	37484											
CUBN	8029	hgsc.bcm.edu	37	10	16955917	16955917	+	Missense_Mutation	SNP	G	G	A			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr10:16955917G>A	ENST00000377833.4	-	48	7491	c.7426C>T	c.(7426-7428)Cgg>Tgg	p.R2476W		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2476	CUB 18. {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)	TCGCAGATCCGGCCATGAGGA	0.532																																																0													113	107	109					10																	16955917		2203	4300	6503	SO:0001583	missense	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.7426C>T	chr10.hg19:g.16955917G>A	ENSP00000367064:p.Arg2476Trp		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	hg19	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.165155	0.38217	.	.	ENSG00000107611	ENST00000377833	T	0.28895	1.59	5.42	2.44	0.29823	CUB (5);	0.173875	0.27686	N	0.018262	T	0.32585	0.0834	M	0.76838	2.35	0.80722	D	1	B	0.20988	0.05	B	0.18561	0.022	T	0.11060	-1.0603	10	0.59425	D	0.04	.	8.2013	0.31426	0.0727:0.0:0.5311:0.3961	.	2476	O60494	CUBN_HUMAN	W	2476	ENSP00000367064:R2476W	ENSP00000367064:R2476W	R	-	1	2	CUBN	16995923	1.000000	0.71417	0.175000	0.22980	0.703000	0.40648	1.663000	0.37429	0.219000	0.20840	0.591000	0.81541	CGG		0.532	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		A	16955917	G	A	16955917	3	1	680	1	0	0	0	0	1	0	0	0	4053	1115	39	1	3525	1	CUBN	10	16955917	Missense_Mutation	SNP	G	TCGA-IA-A40Y-01A-11D-A25F-10		16955917	118578830	42	37485											
BMI1	648	hgsc.bcm.edu	37	10	22618246	22618246	+	Missense_Mutation	SNP	C	C	G			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr10:22618246C>G	ENST00000376663.3	+	10	1261	c.756C>G	c.(754-756)gaC>gaG	p.D252E	COMMD3-BMI1_ENST00000602390.1_Missense_Mutation_p.D395E	NM_005180.8	NP_005171.4	P35226	BMI1_HUMAN	BMI1 proto-oncogene, polycomb ring finger	252	Pro/Ser-rich.				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						TGGAAAGTGACTCTGGGAGTG	0.493																																																0													92	86	88					10																	22618246		2203	4300	6503	SO:0001583	missense	0			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.756C>G	chr10.hg19:g.22618246C>G	ENSP00000365851:p.Asp252Glu		Q16030|Q5T8Z3|Q96F37	Missense_Mutation	SNP	ENST00000376663.3	hg19	CCDS7138.1	.	.	.	.	.	.	.	.	.	.	C	2.210	-0.380859	0.05000	.	.	ENSG00000168283	ENST00000376691;ENST00000376663;ENST00000443519	T;T	0.46063	1.61;0.88	5.58	5.58	0.84498	.	0.045306	0.85682	D	0.000000	T	0.28532	0.0706	N	0.20328	0.56	0.49483	D	0.99979	B;B	0.26547	0.152;0.091	B;B	0.23275	0.03;0.045	T	0.11542	-1.0583	10	0.06891	T	0.86	-6.5673	19.1861	0.93644	0.0:1.0:0.0:0.0	.	252;252	Q5U0M5;P35226	.;BMI1_HUMAN	E	164;252;157	ENSP00000365851:D252E;ENSP00000390768:D157E	ENSP00000365851:D252E	D	+	3	2	BMI1	22658252	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.602000	0.61098	2.638000	0.89438	0.650000	0.86243	GAC		0.493	BMI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047176.1	NM_005180		G	22618246	C	G	22618246	3	3	680	1	0	0	0	0	1	0	0	0	1455	564	20	4	790	4	BMI1	10	22618246	Missense_Mutation	SNP	C	TCGA-IA-A40Y-01A-11D-A25F-10	5662329	22618246	112916501	43	37486											
ABCC2	1244	hgsc.bcm.edu	37	10	101578919	101578919	+	Missense_Mutation	SNP	C	C	A			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr10:101578919C>A	ENST00000370449.4	+	19	2626	c.2513C>A	c.(2512-2514)aCa>aAa	p.T838K		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	838	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	GGGAATGGAACAATTGTAGAG	0.403																																																0													111	111	111					10																	101578919		2203	4300	6503	SO:0001583	missense	1244			U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"ATP binding cassette transporters / subfamily C"	53	protein-coding gene	gene with protein product		601107	"canalicular multispecific organic anion transporter 1"	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.2513C>A	chr10.hg19:g.101578919C>A	ENSP00000359478:p.Thr838Lys		B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	ENST00000370449.4	hg19	CCDS7484.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.655317	0.00779	.	.	ENSG00000023839	ENST00000370449	T	0.75050	-0.9	5.6	2.69	0.31865	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.560580	0.20863	N	0.084313	T	0.43033	0.1229	N	0.04355	-0.22	0.09310	N	0.999999	B	0.11235	0.004	B	0.10450	0.005	T	0.25847	-1.0120	10	0.07813	T	0.8	-14.5155	3.6997	0.08378	0.1227:0.5036:0.2384:0.1353	.	838	Q92887	MRP2_HUMAN	K	838	ENSP00000359478:T838K	ENSP00000359478:T838K	T	+	2	0	ABCC2	101568909	0.000000	0.05858	0.950000	0.38849	0.198000	0.23893	-0.155000	0.10115	0.699000	0.31761	0.561000	0.74099	ACA		0.403	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392		A	101578919	C	A	101578919	3	1	680	1	0	0	0	0	1	0	0	0	53	478	17	4	2587	4	ABCC2	10	101578919	Missense_Mutation	SNP	C	TCGA-IA-A40Y-01A-11D-A25F-10	78960673	101578919	33955828	44	37487											
OR6A2	8590	hgsc.bcm.edu	37	11	6816105	6816105	+	Missense_Mutation	SNP	C	C	A	rs369095527		TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr11:6816105C>A	ENST00000332601.3	-	1	1023	c.835G>T	c.(835-837)Gtc>Ttc	p.V279F		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	279					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGTACAGAGACCAACTTGTTG	0.468																																																0								C	PHE/VAL	0,4402		0,0,2201	139	130	133		835	4.1	0.9	11		133	1,8591	1.2+/-3.3	0,1,4295	no	missense	OR6A2	NM_003696.2	50	0,1,6496	AA,AC,CC		0.0116,0.0,0.0077	probably-damaging	279/328	6816105	1,12993	2201	4296	6497	SO:0001583	missense	8590			AB065822	CCDS7772.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184933	ENSG00000184933		"GPCR / Class A : Olfactory receptors"	15301	protein-coding gene	gene with protein product		608495		OR6A2P, OR6A1			Standard	NM_003696		Approved	OR11-55	uc001mes.1	O95222	OTTHUMG00000165736	ENST00000332601.3:c.835G>T	chr11.hg19:g.6816105C>A	ENSP00000330384:p.Val279Phe		Q3MJC7|Q6IF35|Q9H206	Missense_Mutation	SNP	ENST00000332601.3	hg19	CCDS7772.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.845132	0.32606	0.0	1.16E-4	ENSG00000184933	ENST00000332601	T	0.38722	1.12	5.04	4.13	0.48395	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000122	T	0.51719	0.1691	L	0.42632	1.34	0.33539	D	0.594625	D	0.89917	1.0	D	0.97110	1.0	T	0.63959	-0.6519	10	0.87932	D	0	.	7.3142	0.26491	0.0:0.7407:0.1697:0.0896	.	279	O95222	OR6A2_HUMAN	F	279	ENSP00000330384:V279F	ENSP00000330384:V279F	V	-	1	0	OR6A2	6772681	0.000000	0.05858	0.883000	0.34634	0.059000	0.15707	-0.095000	0.11077	1.508000	0.48769	0.655000	0.94253	GTC		0.468	OR6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385981.1	NM_003696		A	6816105	C	A	6816105	3	1	680	1	0	0	0	0	1	0	0	0	11188	507	18	4	152	4	OR6A2	11	6816105	Missense_Mutation	SNP	C	TCGA-IA-A40Y-01A-11D-A25F-10		6816105	128190411	45	37488											
IGSF22	283284	hgsc.bcm.edu	37	11	18738381	18738381	+	Silent	SNP	A	A	G			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr11:18738381A>G	ENST00000513874.1	-	10	1279	c.1140T>C	c.(1138-1140)gaT>gaC	p.D380D	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	380										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						GCGTCAGACCATCTTCGGACA	0.522																																																0													242	237	238					11																	18738381		2077	4197	6274	SO:0001819	synonymous_variant	283284			AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.1140T>C	chr11.hg19:g.18738381A>G			A6NNA0|D6RGV7	Silent	SNP	ENST00000513874.1	hg19	CCDS41625.2																																																																																				0.522	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588		G	18738381	A	G	18738381	2	3	680	1	0	0	0	0	0	0	0	1	7602	214	8	3		3	IGSF22	11	18738381	Silent	SNP	A	TCGA-IA-A40Y-01A-11D-A25F-10	11922276	18738381	116268135	46	37489											
OR4S1	256148	hgsc.bcm.edu	37	11	48328626	48328626	+	Missense_Mutation	SNP	C	C	G			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr11:48328626C>G	ENST00000319988.1	+	1	852	c.852C>G	c.(850-852)atC>atG	p.I284M		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, 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(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						ACCCTTTGATCTATACACTAA	0.458																																																0													116	103	108					11																	48328626		2201	4298	6499	SO:0001583	missense	256148			AB065908	CCDS31488.1	11p11.2	2012-08-09			ENSG00000176555	ENSG00000176555		"GPCR / Class A : Olfactory receptors"	14705	protein-coding gene	gene with protein product							Standard	NM_001004725		Approved		uc010rhu.2	Q8NGB4	OTTHUMG00000166578	ENST00000319988.1:c.852C>G	chr11.hg19:g.48328626C>G	ENSP00000321447:p.Ile284Met		Q6IFB4	Missense_Mutation	SNP	ENST00000319988.1	hg19	CCDS31488.1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.826742	0.32329	.	.	ENSG00000176555	ENST00000319988	T	0.57273	0.41	5.02	-0.74	0.11115	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.72415	0.3457	M	0.91612	3.225	0.29229	N	0.87339	D	0.89917	1.0	D	0.91635	0.999	T	0.63633	-0.6593	9	0.87932	D	0	.	5.8325	0.18588	0.1251:0.5577:0.0:0.3173	.	284	Q8NGB4	OR4S1_HUMAN	M	284	ENSP00000321447:I284M	ENSP00000321447:I284M	I	+	3	3	OR4S1	48285202	0.001000	0.12720	0.255000	0.24374	0.385000	0.30292	-1.467000	0.02352	-0.015000	0.14150	0.655000	0.94253	ATC		0.458	OR4S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390556.1	NM_001004725		G	48328626	C	G	48328626	3	3	680	1	0	0	0	0	1	0	0	0	11084	903	32	4	854	4	OR4S1	11	48328626	Missense_Mutation	SNP	C	TCGA-IA-A40Y-01A-11D-A25F-10	29590245	48328626	86677890	47	37490											
OR4D9	390199	hgsc.bcm.edu	37	11	59282746	59282746	+	Missense_Mutation	SNP	G	G	C			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr11:59282746G>C	ENST00000329328.3	+	1	361	c.361G>C	c.(361-363)Gac>Cac	p.D121H		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	121						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						GATGGCGTTTGACCGCTATAT	0.522																																																0													83	80	81					11																	59282746		2201	4295	6496	SO:0001583	missense	390199			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.361G>C	chr11.hg19:g.59282746G>C	ENSP00000328563:p.Asp121His		Q6IFF3	Missense_Mutation	SNP	ENST00000329328.3	hg19	CCDS31564.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.617776	0.46736	.	.	ENSG00000172742	ENST00000329328	T	0.55234	0.53	4.16	4.16	0.48862	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42821	U	0.000643	T	0.80053	0.4553	H	0.95437	3.67	0.40769	D	0.983072	D	0.89917	1.0	D	0.81914	0.995	D	0.87427	0.2386	10	0.87932	D	0	-6.8922	15.3691	0.74548	0.0:0.0:1.0:0.0	.	121	Q8NGE8	OR4D9_HUMAN	H	121	ENSP00000328563:D121H	ENSP00000328563:D121H	D	+	1	0	OR4D9	59039322	1.000000	0.71417	0.849000	0.33467	0.015000	0.08874	9.723000	0.98772	2.002000	0.58637	0.563000	0.77884	GAC		0.522	OR4D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394237.1	NM_001004711		C	59282746	G	C	59282746	3	2	680	1	0	0	0	0	1	0	0	0	11061	1290	45	4	363	4	OR4D9	11	59282746	Missense_Mutation	SNP	G	TCGA-IA-A40Y-01A-11D-A25F-10	10954120	59282746	75723770	48	37491											
SLCO2B1	11309	hgsc.bcm.edu	37	11	74875111	74875111	+	Missense_Mutation	SNP	G	G	T			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr11:74875111G>T	ENST00000289575.5	+	3	646	c.251G>T	c.(250-252)aGc>aTc	p.S84I	SLCO2B1_ENST00000454962.2_Intron|SLCO2B1_ENST00000531756.1_Intron|SLCO2B1_ENST00000341411.4_5'UTR|SLCO2B1_ENST00000525650.1_Intron|SLCO2B1_ENST00000526660.1_Intron|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.S62I|SLCO2B1_ENST00000532236.1_Intron	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	84					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)	GGCCTCTCCAGCCAGACGTCG	0.637																																																0													26	22	23					11																	74875111		2200	4293	6493	SO:0001583	missense	11309			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.251G>T	chr11.hg19:g.74875111G>T	ENSP00000289575:p.Ser84Ile		A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1	Missense_Mutation	SNP	ENST00000289575.5	hg19	CCDS8235.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.547002	0.86022	.	.	ENSG00000137491	ENST00000531713;ENST00000289575;ENST00000527180;ENST00000534186;ENST00000428359	T;T;T;T;T	0.58060	0.36;0.36;0.36;0.36;0.36	4.82	4.82	0.62117	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.80303	0.4598	H	0.95328	3.655	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.86661	0.1904	10	0.87932	D	0	.	15.3904	0.74739	0.0:0.0:1.0:0.0	.	84	O94956	SO2B1_HUMAN	I	62;84;62;62;62	ENSP00000432889:S62I;ENSP00000289575:S84I;ENSP00000436513:S62I;ENSP00000433872:S62I;ENSP00000388912:S62I	ENSP00000289575:S84I	S	+	2	0	SLCO2B1	74552759	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	9.180000	0.94867	2.240000	0.73641	0.591000	0.81541	AGC		0.637	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383933.1	NM_007256		T	74875111	G	T	74875111	3	4	680	1	0	0	0	0	1	0	0	0	14733	971	34	4	261	4	SLCO2B1	11	74875111	Missense_Mutation	SNP	G	TCGA-IA-A40Y-01A-11D-A25F-10	15592365	74875111	60131405	49	37492											
ODZ4	26011	hgsc.bcm.edu	37	11	78413254	78413254	+	Missense_Mutation	SNP	C	C	A			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr11:78413254C>A	ENST00000278550.7	-	28	4866	c.4404G>T	c.(4402-4404)gaG>gaT	p.E1468D		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1468					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)										CGGTGGCTGACTCCAGGGTTG	0.567																																																0													59	60	60					11																	78413254		2071	4210	6281	SO:0001583	missense	26011			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"odz, odd Oz/ten-m homolog 4 (Drosophila)"	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.4404G>T	chr11.hg19:g.78413254C>A	ENSP00000278550:p.Glu1468Asp		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	hg19	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.428265	0.62844	.	.	ENSG00000149256	ENST00000278550	D	0.90004	-2.6	5.53	5.53	0.82687	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.89636	0.6772	L	0.35593	1.075	0.50467	D	0.999876	D	0.64830	0.994	D	0.70716	0.97	D	0.87315	0.2314	9	.	.	.	.	10.0702	0.42328	0.0:0.8536:0.0:0.1464	.	1468	Q6N022	TEN4_HUMAN	D	1468	ENSP00000278550:E1468D	.	E	-	3	2	ODZ4	78090902	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	0.803000	0.27083	2.882000	0.98803	0.655000	0.94253	GAG		0.567	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			A	78413254	C	A	78413254	3	1	680	1	0	0	0	0	1	0	0	0	10839	564	20	4	3933	4	ODZ4	11	78413254	Missense_Mutation	SNP	C	TCGA-IA-A40Y-01A-11D-A25F-10	3538143	78413254	56593262	50	37493											
A2M	2	hgsc.bcm.edu	37	12	9251341	9251341	+	Missense_Mutation	SNP	G	G	C			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr12:9251341G>C	ENST00000318602.7	-	15	2020	c.1713C>G	c.(1711-1713)agC>agG	p.S571R		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	571					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)	ATGGGCTGAAGCTCAAATCCA	0.527																																																0													45	46	46					12																	9251341		2203	4300	6503	SO:0001583	missense	2			BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.1713C>G	chr12.hg19:g.9251341G>C	ENSP00000323929:p.Ser571Arg		Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	ENST00000318602.7	hg19	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	G	11.71	1.720504	0.30503	.	.	ENSG00000175899	ENST00000318602;ENST00000540099	T	0.62232	0.04	5.55	3.61	0.41365	Alpha-2-macroglobulin, N-terminal 2 (1);	0.741044	0.13685	N	0.369887	T	0.55924	0.1951	L	0.60455	1.87	0.33904	D	0.638822	B	0.24092	0.097	B	0.30316	0.114	T	0.61574	-0.7035	10	0.36615	T	0.2	.	5.8923	0.18919	0.0783:0.135:0.6479:0.1387	.	571	P01023	A2MG_HUMAN	R	571;586	ENSP00000323929:S571R	ENSP00000323929:S571R	S	-	3	2	A2M	9142608	0.512000	0.26186	0.998000	0.56505	0.376000	0.30014	0.897000	0.28390	1.484000	0.48361	0.655000	0.94253	AGC		0.527	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		C	9251341	G	C	9251341	3	2	680	1	0	0	0	0	1	0	0	0	4	962	34	4	2799	4	A2M	12	9251341	Missense_Mutation	SNP	G	TCGA-IA-A40Y-01A-11D-A25F-10		9251341	124600554	51	37494											
ABCD2	225	hgsc.bcm.edu	37	12	39973352	39973352	+	Missense_Mutation	SNP	C	C	T			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr12:39973352C>T	ENST00000308666.3	-	8	1997	c.1862G>A	c.(1861-1863)cGt>cAt	p.R621H		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	621	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				fatty acid beta-oxidation (GO:0006635)|positive regulation of fatty acid beta-oxidation (GO:0032000)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)	p.R621L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						ATAAAACATACGAGCCATGCC	0.358																																																1	Substitution - Missense(1)	lung(1)											141	136	138					12																	39973352		2203	4300	6503	SO:0001583	missense	225			U28150	CCDS8734.1	12q12	2012-05-16			ENSG00000173208	ENSG00000173208		"ATP binding cassette transporters / subfamily D"	66	protein-coding gene	gene with protein product		601081		ALDL1		8577752	Standard	NM_005164		Approved	ALDR, ALDRP	uc001rmb.2	Q9UBJ2	OTTHUMG00000169337	ENST00000308666.3:c.1862G>A	chr12.hg19:g.39973352C>T	ENSP00000310688:p.Arg621His		B2RAM3|Q13210|Q2M3H9	Missense_Mutation	SNP	ENST00000308666.3	hg19	CCDS8734.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.589233	0.86851	.	.	ENSG00000173208	ENST00000308666	D	0.99893	-7.57	5.08	5.08	0.68730	ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.069130	0.56097	D	0.000022	D	0.99932	0.9969	H	0.98542	4.26	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.95891	0.8907	9	.	.	.	-16.2697	18.5246	0.90967	0.0:1.0:0.0:0.0	.	621	Q9UBJ2	ABCD2_HUMAN	H	621	ENSP00000310688:R621H	.	R	-	2	0	ABCD2	38259619	1.000000	0.71417	0.983000	0.44433	0.666000	0.39218	7.520000	0.81821	2.381000	0.81170	0.579000	0.79373	CGT		0.358	ABCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403591.1	NM_005164		T	39973352	C	T	39973352	3	4	680	1	0	0	0	0	1	0	0	0	61	536	19	1	372	1	ABCD2	12	39973352	Missense_Mutation	SNP	C	TCGA-IA-A40Y-01A-11D-A25F-10	30722011	39973352	93878543	52	37495											
MLL2	8085	hgsc.bcm.edu	37	12	49431988	49431988	+	Missense_Mutation	SNP	C	C	G			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr12:49431988C>G	ENST00000301067.7	-	34	9150	c.9151G>C	c.(9151-9153)Gca>Cca	p.A3051P	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3051					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)										TCAGTATATGCCAGCAGGTCA	0.517																																																0													97	95	95					12																	49431988		2015	4202	6217	SO:0001583	missense	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.9151G>C	chr12.hg19:g.49431988C>G	ENSP00000301067:p.Ala3051Pro		O14687	Missense_Mutation	SNP	ENST00000301067.7	hg19	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	13.32	2.202944	0.38905	.	.	ENSG00000167548	ENST00000301067	D	0.94457	-3.43	5.11	5.11	0.69529	.	0.000000	0.38272	N	0.001746	D	0.96284	0.8788	L	0.49126	1.545	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	D	0.96801	0.9589	10	0.87932	D	0	.	17.698	0.88286	0.0:1.0:0.0:0.0	.	3051	O14686	MLL2_HUMAN	P	3051	ENSP00000301067:A3051P	ENSP00000301067:A3051P	A	-	1	0	MLL2	47718255	1.000000	0.71417	0.972000	0.41901	0.971000	0.66376	7.707000	0.84623	2.549000	0.85964	0.655000	0.94253	GCA		0.517	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			G	49431988	C	G	49431988	3	3	680	1	0	0	0	0	1	0	0	0	9623	739	26	4	7546	4	MLL2	12	49431988	Missense_Mutation	SNP	C	TCGA-IA-A40Y-01A-11D-A25F-10	9458636	49431988	84419907	53	37496											
SHMT2	6472	hgsc.bcm.edu	37	12	57625677	57625677	+	Missense_Mutation	SNP	G	G	C			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr12:57625677G>C	ENST00000328923.3	+	4	945	c.493G>C	c.(493-495)Gac>Cac	p.D165H	SHMT2_ENST00000393827.4_Missense_Mutation_p.W59C|SHMT2_ENST00000557487.1_Missense_Mutation_p.D165H|SHMT2_ENST00000449049.3_Missense_Mutation_p.D144H|SHMT2_ENST00000554600.1_3'UTR|SHMT2_ENST00000553474.1_Missense_Mutation_p.D144H|SHMT2_ENST00000414700.3_Missense_Mutation_p.D144H	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)	165					glycine biosynthetic process from serine (GO:0019264)|L-serine biosynthetic process (GO:0006564)|one-carbon metabolic process (GO:0006730)|positive regulation of cell proliferation (GO:0008284)|protein homotetramerization (GO:0051289)|tetrahydrofolate interconversion (GO:0035999)	extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|chromatin binding (GO:0003682)|glycine hydroxymethyltransferase activity (GO:0004372)|L-allo-threonine aldolase activity (GO:0008732)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Tetrahydrofolic acid(DB00116)	CATGGGGCTGGACCTGCCCGA	0.587																																					Esophageal Squamous(150;1369 2416 49071 49364)											0													30	27	28					12																	57625677		2203	4300	6503	SO:0001583	missense	6472			AK223555	CCDS8934.1, CCDS53805.1, CCDS55837.1	12q12-q14	2006-03-27				ENSG00000182199	2.1.2.1		10852	protein-coding gene	gene with protein product		138450		SHMT		8999870	Standard	NM_005412		Approved		uc001snf.2	P34897		ENST00000328923.3:c.493G>C	chr12.hg19:g.57625677G>C	ENSP00000333667:p.Asp165His		B7Z9F1|E7EQ19|E7EU43|O00740|Q8N1A5	Missense_Mutation	SNP	ENST00000328923.3	hg19	CCDS8934.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.6|24.6	4.546641|4.546641	0.86022|0.86022	.|.	.|.	ENSG00000182199|ENSG00000182199	ENST00000328923;ENST00000557487;ENST00000555634;ENST00000556689;ENST00000414700;ENST00000553529;ENST00000554310;ENST00000557427;ENST00000553474;ENST00000555773;ENST00000554975;ENST00000449049;ENST00000556737|ENST00000393827	T;T;T;T;T;T;T;T;T;T;T;T;T|T	0.50001|0.31510	1.39;0.76;0.76;0.76;1.39;1.39;1.39;1.39;1.39;1.39;1.39;1.39;1.39|1.49	4.53|4.53	4.53|4.53	0.55603|0.55603	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.57110|0.57110	0.2031|0.2031	M|M	0.89163|0.89163	3.01|3.01	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D|D	0.71674|0.67145	0.998;0.993;0.997|0.996	D;D;P|P	0.66497|0.57371	0.944;0.925;0.815|0.819	T|T	0.68228|0.68228	-0.5464|-0.5464	10|9	0.87932|0.87932	D|D	0|0	-5.8122|-5.8122	16.58|16.58	0.84712|0.84712	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	174;165;165|59	B4DWA7;Q8N1A5;P34897|B4DLV4	.;.;GLYM_HUMAN|.	H|C	165;165;4;165;144;144;144;144;144;144;144;144;144|59	ENSP00000333667:D165H;ENSP00000452315:D165H;ENSP00000450930:D4H;ENSP00000452035:D165H;ENSP00000406881:D144H;ENSP00000452161:D144H;ENSP00000450893:D144H;ENSP00000452045:D144H;ENSP00000452419:D144H;ENSP00000451968:D144H;ENSP00000452404:D144H;ENSP00000413770:D144H;ENSP00000451495:D144H|ENSP00000377413:W59C	ENSP00000333667:D165H|ENSP00000377413:W59C	D|W	+|+	1|3	0|0	SHMT2|SHMT2	55911944|55911944	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.657000|9.657000	0.98554|0.98554	2.517000|2.517000	0.84864|0.84864	0.561000|0.561000	0.74099|0.74099	GAC|TGG		0.587	SHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412525.2	NM_005412		C	57625677	G	C	57625677	3	2	680	1	0	0	0	0	1	0	0	0	14292	1174	41	4	507	4	SHMT2	12	57625677	Missense_Mutation	SNP	G	TCGA-IA-A40Y-01A-11D-A25F-10	8193689	57625677	76226218	54	37497											
CYP27B1	1594	hgsc.bcm.edu	37	12	58160674	58160674	+	Missense_Mutation	SNP	C	C	G			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr12:58160674C>G	ENST00000228606.4	-	1	360	c.151G>C	c.(151-153)Gaa>Caa	p.E51Q	CYP27B1_ENST00000546496.1_5'Flank	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	51					bone mineralization (GO:0030282)|calcitriol biosynthetic process from calciol (GO:0036378)|calcium ion homeostasis (GO:0055074)|calcium ion transport (GO:0006816)|decidualization (GO:0046697)|G1 to G0 transition (GO:0070314)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of bone mineralization (GO:0030500)|response to estrogen (GO:0043627)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	calcidiol 1-monooxygenase activity (GO:0004498)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Alfacalcidol(DB01436)|Calcidiol(DB00146)|Corticotropin(DB01285)|Ergocalciferol(DB00153)	CAGAAAAGTTCGGCCAGAAAG	0.632																																																0													65	73	70					12																	58160674		2203	4300	6503	SO:0001583	missense	1594			AB006987	CCDS8954.1	12q14.1	2013-11-13	2003-01-14		ENSG00000111012	ENSG00000111012		"Cytochrome P450s"	2606	protein-coding gene	gene with protein product	"VDDR I", "1alpha(OH)ase", "25-Hydroxyvitamin D3 1alpha-hydroxylase"	609506	"cytochrome P450, subfamily XXVIIB (25-hydroxyvitamin D-1-alpha-hydroxylase), polypeptide 1"	VDD1, PDDR		9295274, 9344864	Standard	NM_000785		Approved	CYP1, P450c1	uc001spz.1	O15528	OTTHUMG00000170457	ENST00000228606.4:c.151G>C	chr12.hg19:g.58160674C>G	ENSP00000228606:p.Glu51Gln		B2RC61|Q548T3	Missense_Mutation	SNP	ENST00000228606.4	hg19	CCDS8954.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.516287	0.85495	.	.	ENSG00000111012	ENST00000228606	T	0.68479	-0.33	5.26	5.26	0.73747	.	0.059156	0.64402	D	0.000003	T	0.54127	0.1839	N	0.12920	0.275	0.49299	D	0.999778	B	0.30634	0.288	B	0.39094	0.29	T	0.48603	-0.9021	10	0.08837	T	0.75	.	17.7796	0.88519	0.0:1.0:0.0:0.0	.	51	O15528	CP27B_HUMAN	Q	51	ENSP00000228606:E51Q	ENSP00000228606:E51Q	E	-	1	0	CYP27B1	56446941	1.000000	0.71417	0.963000	0.40424	0.870000	0.49936	6.357000	0.73051	2.729000	0.93468	0.655000	0.94253	GAA		0.632	CYP27B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409248.1	NM_000785		G	58160674	C	G	58160674	3	3	680	1	0	0	0	0	1	0	0	0	4161	893	31	4	1411	4	CYP27B1	12	58160674	Missense_Mutation	SNP	C	TCGA-IA-A40Y-01A-11D-A25F-10	534997	58160674	75691221	55	37498											
TCP11L2	255394	hgsc.bcm.edu	37	12	106717360	106717360	+	Missense_Mutation	SNP	C	C	G	rs138241328		TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr12:106717360C>G	ENST00000299045.3	+	6	882	c.708C>G	c.(706-708)caC>caG	p.H236Q	TCP11L2_ENST00000547153.1_Missense_Mutation_p.H236Q|TCP11L2_ENST00000546625.1_Missense_Mutation_p.H236Q|TCP11L2_ENST00000552690.1_3'UTR	NM_152772.1	NP_689985.1	Q8N4U5	T11L2_HUMAN	t-complex 11, testis-specific-like 2	236										endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						TCAGACCGCACCTTCAACGCC	0.343																																																0													55	60	58					12																	106717360		2203	4300	6503	SO:0001583	missense	255394			BC033617	CCDS9104.1, CCDS66456.1	12q23.3	2014-08-12	2012-09-20		ENSG00000166046	ENSG00000166046			28627	protein-coding gene	gene with protein product			"t-complex 11 (mouse) like 2", "t-complex 11 (mouse)-like 2"				Standard	XM_005268769		Approved	MGC40368	uc001tln.3	Q8N4U5	OTTHUMG00000170087	ENST00000299045.3:c.708C>G	chr12.hg19:g.106717360C>G	ENSP00000299045:p.His236Gln		B2RA65|G3V1Y9	Missense_Mutation	SNP	ENST00000299045.3	hg19	CCDS9104.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.024466	0.54683	.	.	ENSG00000166046	ENST00000547153;ENST00000299045;ENST00000546625	T;T;T	0.10960	2.82;2.82;2.82	5.76	2.51	0.30379	.	0.573213	0.19030	N	0.124583	T	0.07908	0.0198	N	0.25380	0.74	0.27925	N	0.938083	P;B;B	0.34815	0.47;0.13;0.138	B;B;B	0.39465	0.3;0.039;0.022	T	0.27020	-1.0086	10	0.25751	T	0.34	-14.6909	5.8057	0.18438	0.0:0.5201:0.1733:0.3066	.	236;236;236	Q8N4U5;G3V1Y9;G3V1Z2	T11L2_HUMAN;.;.	Q	236	ENSP00000448952:H236Q;ENSP00000299045:H236Q;ENSP00000449123:H236Q	ENSP00000299045:H236Q	H	+	3	2	TCP11L2	105241490	0.044000	0.20184	0.935000	0.37517	0.949000	0.60115	-0.293000	0.08320	0.588000	0.29660	0.655000	0.94253	CAC		0.343	TCP11L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407206.1	NM_152772		G	106717360	C	G	106717360	3	3	680	1	0	0	0	0	1	0	0	0	15720	506	18	4	726	4	TCP11L2	12	106717360	Missense_Mutation	SNP	C	TCGA-IA-A40Y-01A-11D-A25F-10	48556686	106717360	27134535	56	37499											
C12orf34	84915	hgsc.bcm.edu	37	12	110207030	110207030	+	Silent	SNP	G	G	A	rs138993259		TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr12:110207030G>A	ENST00000538780.1	+	3	2012	c.1296G>A	c.(1294-1296)acG>acA	p.T432T	FAM222A-AS1_ENST00000541723.1_RNA|FAM222A_ENST00000358906.3_Silent_p.T432T|FAM222A-AS1_ENST00000541460.1_RNA	NM_032829.2	NP_116218.2	Q5U5X8	F222A_HUMAN	family with sequence similarity 222, member A	432																	GCTATGAGACGGTGGCCGTGC	0.627																																																0								G		0,4396		0,0,2198	22	18	19		1296	-6.8	0.9	12	dbSNP_134	19	1,8569		0,1,4284	no	coding-synonymous	C12orf34	NM_032829.2		0,1,6482	AA,AG,GG		0.0117,0.0,0.0077		432/453	110207030	1,12965	2198	4285	6483	SO:0001819	synonymous_variant	84915			AK027627	CCDS9133.1	12q24.11	2012-04-27	2012-04-27	2012-04-27	ENSG00000139438	ENSG00000139438			25915	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 34"	C12orf34		12477932	Standard	NM_032829		Approved	FLJ14721	uc001tpd.2	Q5U5X8	OTTHUMG00000169260	ENST00000538780.1:c.1296G>A	chr12.hg19:g.110207030G>A			Q8NCD5|Q96SP6	Silent	SNP	ENST00000538780.1	hg19	CCDS9133.1																																																																																				0.627	FAM222A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403175.1	NM_032829		A	110207030	G	A	110207030	2	1	680	1	0	0	0	0	0	0	0	1	1683	1103	39	1		1	C12orf34	12	110207030	Silent	SNP	G	TCGA-IA-A40Y-01A-11D-A25F-10	3489670	110207030	23644865	57	37500											
TRPV4	59341	hgsc.bcm.edu	37	12	110234478	110234478	+	Missense_Mutation	SNP	G	G	A	rs374197231		TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr12:110234478G>A	ENST00000418703.2	-	6	1278	c.1184C>T	c.(1183-1185)aCg>aTg	p.T395M	TRPV4_ENST00000536838.1_Missense_Mutation_p.T361M|TRPV4_ENST00000346520.2_Intron|TRPV4_ENST00000541794.1_Missense_Mutation_p.T348M|TRPV4_ENST00000544971.1_Intron|TRPV4_ENST00000261740.2_Missense_Mutation_p.T395M|TRPV4_ENST00000537083.1_Intron|TRPV4_ENST00000392719.2_Missense_Mutation_p.T348M	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	395					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						GTCCTCATCCGTCACCTCCCG	0.627																																																0								G	MET/THR,MET/THR,,MET/THR,	0,4406		0,0,2203	102	85	91		1043,1082,,1184,	3.2	0.9	12		91	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,intron,missense,intron	TRPV4	NM_001177428.1,NM_001177431.1,NM_001177433.1,NM_021625.4,NM_147204.2	81,81,,81,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,,probably-damaging,	348/825,361/838,,395/872,	110234478	1,13005	2203	4300	6503	SO:0001583	missense	59341			AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18083	protein-coding gene	gene with protein product	"osmosensitive transient receptor potential channel 4"	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.1184C>T	chr12.hg19:g.110234478G>A	ENSP00000406191:p.Thr395Met		B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Missense_Mutation	SNP	ENST00000418703.2	hg19	CCDS9134.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.037326	0.35989	0.0	1.16E-4	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000392719;ENST00000541794;ENST00000536838	D;D;D;D;D	0.89552	-2.53;-2.53;-2.31;-2.31;-2.53	5.16	3.22	0.36961	.	0.149468	0.64402	D	0.000018	T	0.81631	0.4863	L	0.31476	0.935	0.80722	D	1	D;B;B	0.54772	0.968;0.184;0.32	P;B;B	0.45276	0.475;0.103;0.103	T	0.78386	-0.2224	10	0.38643	T	0.18	-9.8296	6.9524	0.24552	0.0814:0.0:0.6258:0.2927	.	395;348;361	Q9HBA0;Q9HBA0-4;Q9HBA0-5	TRPV4_HUMAN;.;.	M	395;395;348;348;361	ENSP00000406191:T395M;ENSP00000261740:T395M;ENSP00000376480:T348M;ENSP00000442167:T348M;ENSP00000444336:T361M	ENSP00000261740:T395M	T	-	2	0	TRPV4	108718861	0.916000	0.31088	0.919000	0.36401	0.863000	0.49368	1.418000	0.34782	1.181000	0.42912	-0.251000	0.11542	ACG		0.627	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625		A	110234478	G	A	110234478	3	1	680	1	0	0	0	0	1	0	0	0	16603	1145	40	1	1471	1	TRPV4	12	110234478	Missense_Mutation	SNP	G	TCGA-IA-A40Y-01A-11D-A25F-10	27448	110234478	23617417	58	37501											
RCBTB1	55213	hgsc.bcm.edu	37	13	50134123	50134123	+	Silent	SNP	G	G	C			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr13:50134123G>C	ENST00000378302.2	-	5	635	c.375C>G	c.(373-375)ctC>ctG	p.L125L	RCBTB1_ENST00000258646.3_Silent_p.L125L|RCBTB1_ENST00000546015.1_Silent_p.L125L	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1	125					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)		GCTTGATCAAGAGATTGGTAC	0.483																																																0													210	203	206					13																	50134123		2203	4300	6503	SO:0001819	synonymous_variant	55213			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.375C>G	chr13.hg19:g.50134123G>C			Q8IY29|Q969U9	Silent	SNP	ENST00000378302.2	hg19	CCDS9418.1																																																																																				0.483	RCBTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044912.2	NM_018191		C	50134123	G	C	50134123	2	2	680	1	0	0	0	0	0	0	0	1	13177	929	33	4		4	RCBTB1	13	50134123	Silent	SNP	G	TCGA-IA-A40Y-01A-11D-A25F-10		50134123	65035755	59	37502											
NALCN	259232	hgsc.bcm.edu	37	13	101881861	101881861	+	Silent	SNP	T	T	C			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr13:101881861T>C	ENST00000251127.6	-	13	1590	c.1509A>G	c.(1507-1509)ggA>ggG	p.G503G	NALCN_ENST00000376196.3_Silent_p.G503G|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	503					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CAAGCTTTTTTCCAGGACCAA	0.398																																																0													104	112	110					13																	101881861		2203	4300	6503	SO:0001819	synonymous_variant	259232			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"Ion channels / Sodium leak channels, non-selective"	19082	protein-coding gene	gene with protein product		611549	"voltage gated channel like 1"	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.1509A>G	chr13.hg19:g.101881861T>C			Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Silent	SNP	ENST00000251127.6	hg19	CCDS9498.1																																																																																				0.398	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		C	101881861	T	C	101881861	2	2	680	1	0	0	0	0	0	0	0	1	10150	1770	62	3		3	NALCN	13	101881861	Silent	SNP	T	TCGA-IA-A40Y-01A-11D-A25F-10	51747738	101881861	13288017	60	37503											
HECTD1	25831	hgsc.bcm.edu	37	14	31582629	31582629	+	Missense_Mutation	SNP	C	C	T			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr14:31582629C>T	ENST00000399332.1	-	33	6406	c.5918G>A	c.(5917-5919)aGt>aAt	p.S1973N	HECTD1_ENST00000553700.1_Missense_Mutation_p.S1973N	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1973					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)		AATATCACTACTTTGAAGAGT	0.388																																																0													167	164	165					14																	31582629		1831	4088	5919	SO:0001583	missense	25831			AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"Ankyrin repeat domain containing"	20157	protein-coding gene	gene with protein product			"HECT domain containing 1"			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.5918G>A	chr14.hg19:g.31582629C>T	ENSP00000382269:p.Ser1973Asn		D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	hg19	CCDS41939.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.089|1.089	-0.664515|-0.664515	0.03428|0.03428	.|.	.|.	ENSG00000092148|ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000553957|ENST00000554882	T;T;T|.	0.43294|.	0.95;0.95;1.2|.	5.94|5.94	2.88|2.88	0.33553|0.33553	.|.	0.115316|.	0.56097|.	U|.	0.000027|.	T|T	0.46112|0.46112	0.1376|0.1376	L|L	0.40543|0.40543	1.245|1.245	0.38847|0.38847	D|D	0.956199|0.956199	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.30679|0.30679	-0.9970|-0.9970	10|5	0.18276|.	T|.	0.48|.	-2.8194|-2.8194	6.637|6.637	0.22889|0.22889	0.0:0.4212:0.0:0.5788|0.0:0.4212:0.0:0.5788	.|.	1973;1973|.	D3DS86;Q9ULT8|.	.;HECD1_HUMAN|.	N|I	1973;1975;1973;1400|339	ENSP00000450697:S1973N;ENSP00000382269:S1973N;ENSP00000451860:S1400N|.	ENSP00000261312:S1975N|.	S|V	-|-	2|1	0|0	HECTD1|HECTD1	30652380|30652380	1.000000|1.000000	0.71417|0.71417	0.970000|0.970000	0.41538|0.41538	0.020000|0.020000	0.10135|0.10135	2.462000|2.462000	0.45049|0.45049	0.363000|0.363000	0.24346|0.24346	-0.145000|-0.145000	0.13849|0.13849	AGT|GTA		0.388	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			T	31582629	C	T	31582629	3	4	680	1	0	0	0	0	1	0	0	0	7041	565	20	2	1958	2	HECTD1	14	31582629	Missense_Mutation	SNP	C	TCGA-IA-A40Y-01A-11D-A25F-10		31582629	75766911	61	37504											
HEATR5A	25938	hgsc.bcm.edu	37	14	31763220	31763220	+	Missense_Mutation	SNP	A	A	G			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr14:31763220A>G	ENST00000389961.3	-	34	5691	c.5692T>C	c.(5692-5694)Tgt>Cgt	p.C1898R	RP11-596D21.1_ENST00000551799.1_RNA|HEATR5A_ENST00000439727.1_Missense_Mutation_p.C1611R|HEATR5A_ENST00000439348.1_Missense_Mutation_p.C1823R|HEATR5A_ENST00000543095.2_Missense_Mutation_p.C1904R			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1898										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TCCATGATACAGGATGCTAAA	0.398																																																0													119	103	108					14																	31763220		1848	4109	5957	SO:0001583	missense	25938			AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 125"	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.5692T>C	chr14.hg19:g.31763220A>G	ENSP00000374611:p.Cys1898Arg		Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Missense_Mutation	SNP	ENST00000389961.3	hg19		.	.	.	.	.	.	.	.	.	.	A	0.006	-2.045063	0.00398	.	.	ENSG00000129493	ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095	T;T;T;T	0.67865	-0.07;-0.29;-0.07;-0.07	5.22	1.47	0.22746	.	0.352635	0.30227	N	0.010105	T	0.20129	0.0484	N	0.00237	-1.79	0.19575	N	0.999969	B	0.02656	0.0	B	0.01281	0.0	T	0.40683	-0.9550	10	0.02654	T	1	.	4.434	0.11542	0.6479:0.0:0.2188:0.1333	.	1823	Q86XA9-2	.	R	1898;1823;1611;1904	ENSP00000374611:C1898R;ENSP00000405407:C1823R;ENSP00000408681:C1611R;ENSP00000437968:C1904R	ENSP00000374611:C1898R	C	-	1	0	HEATR5A	30832971	0.000000	0.05858	0.277000	0.24703	0.168000	0.22595	0.567000	0.23608	0.317000	0.23160	-0.509000	0.04479	TGT		0.398	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015473		G	31763220	A	G	31763220	3	3	680	1	0	0	0	0	1	0	0	0	7033	188	7	3	438	3	HEATR5A	14	31763220	Missense_Mutation	SNP	A	TCGA-IA-A40Y-01A-11D-A25F-10	180591	31763220	75586320	62	37505											
SYNE2	23224	hgsc.bcm.edu	37	14	64519117	64519117	+	Nonsense_Mutation	SNP	T	T	G			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr14:64519117T>G	ENST00000344113.4	+	48	8698	c.8486T>G	c.(8485-8487)tTa>tGa	p.L2829*	SYNE2_ENST00000554584.1_Nonsense_Mutation_p.L2862*|SYNE2_ENST00000358025.3_Nonsense_Mutation_p.L2829*|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2829					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)		TCACAGCAATTAGAATTTAAG	0.343																																																0													43	41	42					14																	64519117		1811	4086	5897	SO:0001587	stop_gained	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.8486T>G	chr14.hg19:g.64519117T>G	ENSP00000341781:p.Leu2829*		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Nonsense_Mutation	SNP	ENST00000344113.4	hg19	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	T	50	16.272729	0.99859	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	.	.	.	5.27	5.27	0.74061	.	0.000000	0.38720	N	0.001585	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.7819	0.63087	0.0:0.0:0.0:1.0	.	.	.	.	X	2829;2829;2862;2862	.	ENSP00000261678:L2862X	L	+	2	0	SYNE2	63588870	0.992000	0.36948	0.998000	0.56505	0.933000	0.57130	5.172000	0.65003	2.004000	0.58718	0.260000	0.18958	TTA		0.343	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		G	64519117	T	G	64519117	4	3	680	1	0	0	0	0	0	1	0	0	15451	1764	61	5	8672	5	SYNE2	14	64519117	Nonsense_Mutation	SNP	T	TCGA-IA-A40Y-01A-11D-A25F-10	32755897	64519117	42830423	63	37506											
SIPA1L1	26037	hgsc.bcm.edu	37	14	72171977	72171977	+	Missense_Mutation	SNP	C	C	T			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr14:72171977C>T	ENST00000555818.1	+	14	4096	c.3748C>T	c.(3748-3750)Cca>Tca	p.P1250S	SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.P704S|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.P1229S|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.P1229S	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1250					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)		AAAGGTACTGCCAGCTTTCCG	0.468																																																0													119	112	114					14																	72171977		2203	4300	6503	SO:0001583	missense	26037			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.3748C>T	chr14.hg19:g.72171977C>T	ENSP00000450832:p.Pro1250Ser		J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	hg19	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	C	7.356	0.623914	0.14193	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413	T;T;T;T	0.54866	0.55;0.55;0.55;0.55	6.16	6.16	0.99307	.	0.145473	0.64402	D	0.000007	T	0.52322	0.1727	N	0.11560	0.145	0.58432	D	0.999998	B;D;B;B;D	0.63880	0.012;0.993;0.004;0.066;0.972	B;D;B;B;P	0.70227	0.022;0.968;0.008;0.039;0.777	T	0.38908	-0.9639	10	0.02654	T	1	-15.1553	20.8598	0.99761	0.0:1.0:0.0:0.0	.	704;1250;704;1229;1250	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	S	1229;1250;1229;704	ENSP00000370630:P1229S;ENSP00000450832:P1250S;ENSP00000351352:P1229S;ENSP00000440682:P704S	ENSP00000351352:P1250S	P	+	1	0	SIPA1L1	71241730	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.359000	0.66074	2.937000	0.99478	0.650000	0.86243	CCA		0.468	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		T	72171977	C	T	72171977	3	4	680	1	0	0	0	0	1	0	0	0	14335	739	26	2	3798	2	SIPA1L1	14	72171977	Missense_Mutation	SNP	C	TCGA-IA-A40Y-01A-11D-A25F-10	7652860	72171977	35177563	64	37507											
CKB	1152	hgsc.bcm.edu	37	14	103988811	103988811	+	Missense_Mutation	SNP	T	T	G			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr14:103988811T>G	ENST00000348956.2	-	2	377	c.20A>C	c.(19-21)cAc>cCc	p.H7P	RP11-600F24.7_ENST00000568177.1_RNA	NM_001823.4	NP_001814.2	P12277	KCRB_HUMAN	creatine kinase, brain	7					cellular chloride ion homeostasis (GO:0030644)|cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			lung(2)|prostate(1)	3		Melanoma(154;0.155)	Epithelial(46;0.14)		Creatine(DB00148)	CAGTGCGTTGTGGCTGTTGGA	0.706																																					Esophageal Squamous(186;2492 2823 49929 50127)											0													49	43	45					14																	103988811		2201	4300	6501	SO:0001583	missense	1152				CCDS9981.1	14q32.32	2012-10-02			ENSG00000166165	ENSG00000166165	2.7.3.2		1991	protein-coding gene	gene with protein product		123280		CKBB			Standard	NM_001823		Approved		uc001ynf.2	P12277	OTTHUMG00000171786	ENST00000348956.2:c.20A>C	chr14.hg19:g.103988811T>G	ENSP00000299198:p.His7Pro		A8K236|B2R5R4|Q2LE07|Q6FG40|Q9UC66	Missense_Mutation	SNP	ENST00000348956.2	hg19	CCDS9981.1	.	.	.	.	.	.	.	.	.	.	T	14.98	2.696367	0.48202	.	.	ENSG00000166165	ENST00000348956;ENST00000428256;ENST00000553878	T;T	0.38240	1.82;1.15	4.17	4.17	0.49024	ATP:guanido phosphotransferase, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.56202	0.1969	M	0.82193	2.58	0.80722	D	1	P	0.48503	0.911	P	0.55112	0.769	T	0.64896	-0.6299	10	0.87932	D	0	.	13.5095	0.61504	0.0:0.0:0.0:1.0	.	7	P12277	KCRB_HUMAN	P	7	ENSP00000299198:H7P;ENSP00000451904:H7P	ENSP00000299198:H7P	H	-	2	0	CKB	103058564	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	6.860000	0.75473	1.783000	0.52377	0.246000	0.17985	CAC		0.706	CKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415111.1			G	103988811	T	G	103988811	3	3	680	1	0	0	0	0	1	0	0	0	3448	1696	59	5	1153	5	CKB	14	103988811	Missense_Mutation	SNP	T	TCGA-IA-A40Y-01A-11D-A25F-10	31816834	103988811	3360729	65	37508											
SOLH	6650	hgsc.bcm.edu	37	16	598994	598994	+	Splice_Site	SNP	A	A	G			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr16:598994A>G	ENST00000219611.2	+	5	1814	c.1451A>G	c.(1450-1452)aAc>aGc	p.N484S	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1	O75808	CAN15_HUMAN	calpain 15	484					proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										TCTCTGCAGAACAATGTGAGC	0.662																																																0													112	92	99					16																	598994		2198	4297	6495	SO:0001630	splice_region_variant	6650			U85647	CCDS10410.1	16p13.3	2013-06-27	2013-06-27	2013-06-27	ENSG00000103326	ENSG00000103326			11182	protein-coding gene	gene with protein product		603267	"small optic lobes (Drosophila) homolog", "small optic lobes homolog (Drosophila)"	SOLH		9722942	Standard	NM_005632		Approved		uc002chi.3	O75808	OTTHUMG00000119059	ENST00000219611.2:c.1450-1A>G	chr16.hg19:g.598994A>G			B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0	Missense_Mutation	SNP	ENST00000219611.2	hg19	CCDS10410.1	.	.	.	.	.	.	.	.	.	.	a	10.23	1.292148	0.23564	.	.	ENSG00000103326	ENST00000219611	T	0.40756	1.02	5.04	5.04	0.67666	Peptidase C2, calpain, catalytic domain (1);	0.090831	0.64402	D	0.000001	T	0.49372	0.1553	L	0.27053	0.805	0.58432	D	0.999994	D	0.71674	0.998	D	0.77004	0.989	T	0.43147	-0.9409	10	0.30854	T	0.27	.	13.6292	0.62186	1.0:0.0:0.0:0.0	.	484	O75808	CAN15_HUMAN	S	484	ENSP00000219611:N484S	ENSP00000219611:N484S	N	+	2	0	SOLH	538995	1.000000	0.71417	0.967000	0.41034	0.345000	0.29048	6.977000	0.76141	1.903000	0.55091	0.454000	0.30748	AAC		0.662	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239271.1	NM_005632	Missense_Mutation	G	598994	A	G	598994	5	3	680	1	0	0	0	0	0	0	1	0	14931	57	2	3	1457	3	SOLH	16	598994	Splice_Site	SNP	A	TCGA-IA-A40Y-01A-11D-A25F-10		598994	89755759	66	37509											
MYH8	4626	hgsc.bcm.edu	37	17	10300168	10300168	+	Silent	SNP	A	A	T			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr17:10300168A>T	ENST00000403437.2	-	31	4408	c.4314T>A	c.(4312-4314)tcT>tcA	p.S1438S	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	1438					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						AGGCTGCATTAGACCTTTCCA	0.463									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																																							0													110	100	103					17																	10300168		2203	4300	6503	SO:0001819	synonymous_variant	4626	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"Myosins / Myosin superfamily : Class II"	7578	protein-coding gene	gene with protein product		160741	"myosin, heavy polypeptide 8, skeletal muscle, perinatal"			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.4314T>A	chr17.hg19:g.10300168A>T			Q14910	Silent	SNP	ENST00000403437.2	hg19	CCDS11153.1																																																																																				0.463	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		T	10300168	A	T	10300168	2	4	680	1	0	0	0	0	0	0	0	1	10043	407	15	5		5	MYH8	17	10300168	Silent	SNP	A	TCGA-IA-A40Y-01A-11D-A25F-10		10300168	70895042	67	37510											
CLTC	1213	hgsc.bcm.edu	37	17	57728648	57728648	+	Missense_Mutation	SNP	G	G	T			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr17:57728648G>T	ENST00000269122.3	+	5	1040	c.766G>T	c.(766-768)Gca>Tca	p.A256S	CLTC_ENST00000393043.1_Missense_Mutation_p.A256S|CLTC_ENST00000579456.1_Intron	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	256	Globular terminal domain.|WD40-like repeat 5.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TCCTCCAGAAGCACAAAATGA	0.353			T	"ALK, TFE3"	"ALCL, renal "																																		Dom	yes		17	17q11-qter	1213	"clathrin, heavy polypeptide (Hc)"		L	0													146	149	148					17																	57728648		2203	4300	6503	SO:0001583	missense	1213			X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"clathrin, heavy polypeptide (Hc)", "clathrin, heavy chain", "clathrin, heavy polypeptide-like 2"	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.766G>T	chr17.hg19:g.57728648G>T	ENSP00000269122:p.Ala256Ser		D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	ENST00000269122.3	hg19	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	G	35	5.556566	0.96514	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.24350	1.86;1.86	5.62	5.62	0.85841	Clathrin, heavy chain, propeller, N-terminal (1);Clathrin, heavy chain, linker/propeller domain (1);	0.000000	0.85682	D	0.000000	T	0.63640	0.2528	M	0.93283	3.4	0.80722	D	1	D;P	0.58268	0.982;0.857	D;P	0.72338	0.977;0.876	T	0.68992	-0.5263	10	0.44086	T	0.13	.	20.0333	0.97547	0.0:0.0:1.0:0.0	.	256;256	Q00610;Q00610-2	CLH1_HUMAN;.	S	256	ENSP00000269122:A256S;ENSP00000376763:A256S	ENSP00000269122:A256S	A	+	1	0	CLTC	55083430	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.810000	0.96702	0.585000	0.79938	GCA		0.353	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859		T	57728648	G	T	57728648	3	4	680	1	0	0	0	0	1	0	0	0	3568	971	34	4	784	4	CLTC	17	57728648	Missense_Mutation	SNP	G	TCGA-IA-A40Y-01A-11D-A25F-10	47428480	57728648	23466562	68	37511											
BPTF	2186	hgsc.bcm.edu	37	17	65960510	65960510	+	Missense_Mutation	SNP	G	G	T	rs368469411		TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr17:65960510G>T	ENST00000321892.4	+	27	8883	c.8822G>T	c.(8821-8823)cGt>cTt	p.R2941L	BPTF_ENST00000335221.5_Missense_Mutation_p.R2798L|BPTF_ENST00000424123.3_Missense_Mutation_p.R2659L|BPTF_ENST00000306378.6_Missense_Mutation_p.R2815L			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2941					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)			AGGGTGCTCCGTTCCTTACAG	0.458																																																0													83	74	77					17																	65960510		2203	4300	6503	SO:0001583	missense	2186			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"Zinc fingers, PHD-type"	3581	protein-coding gene	gene with protein product		601819	"fetal Alzheimer antigen"	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.8822G>T	chr17.hg19:g.65960510G>T	ENSP00000315454:p.Arg2941Leu		Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	hg19		.	.	.	.	.	.	.	.	.	.	G	16.21	3.057919	0.55325	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892;ENST00000342579	T;T;T	0.30448	1.53;1.53;1.53	5.65	5.65	0.86999	.	.	.	.	.	T	0.52435	0.1734	L	0.49455	1.56	0.80722	D	1	P;P;D;D	0.76494	0.587;0.872;0.999;0.999	B;P;D;D	0.80764	0.187;0.773;0.994;0.994	T	0.45190	-0.9278	9	0.49607	T	0.09	-6.4917	19.7202	0.96139	0.0:0.0:1.0:0.0	.	146;619;2815;2798	E9PE19;B4DJV8;Q12830-2;Q12830-4	.;.;.;.	L	2815;2798;2941;146	ENSP00000307208:R2815L;ENSP00000334351:R2798L;ENSP00000315454:R2941L	ENSP00000307208:R2815L	R	+	2	0	BPTF	63390972	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.807000	0.99171	2.660000	0.90430	0.555000	0.69702	CGT		0.458	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		T	65960510	G	T	65960510	3	4	680	1	0	0	0	0	1	0	0	0	1497	1145	40	4	8928	4	BPTF	17	65960510	Missense_Mutation	SNP	G	TCGA-IA-A40Y-01A-11D-A25F-10	8231862	65960510	15234700	69	37512											
CBX4	8535	hgsc.bcm.edu	37	17	77807886	77807886	+	Missense_Mutation	SNP	G	G	C			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr17:77807886G>C	ENST00000269397.4	-	5	1732	c.1555C>G	c.(1555-1557)Cca>Gca	p.P519A		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	519	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)			GCCTCGGCTGGAGGCTTCTCC	0.672																																																0													36	45	42					17																	77807886		2201	4296	6497	SO:0001583	missense	8535			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.1555C>G	chr17.hg19:g.77807886G>C	ENSP00000269397:p.Pro519Ala		B1PJR7|Q6TPI8|Q96C04	Missense_Mutation	SNP	ENST00000269397.4	hg19	CCDS32758.1	.	.	.	.	.	.	.	.	.	.	g	8.387	0.838920	0.16891	.	.	ENSG00000141582	ENST00000269397;ENST00000343048	.	.	.	3.16	3.16	0.36331	.	3.167460	0.02836	N	0.127360	T	0.20251	0.0487	N	0.11560	0.145	0.19575	N	0.999969	B	0.20261	0.043	B	0.17433	0.018	T	0.25152	-1.0140	9	0.12103	T	0.63	-14.3825	5.4008	0.16295	0.1115:0.0:0.6877:0.2008	.	519	O00257	CBX4_HUMAN	A	519;249	.	ENSP00000269397:P519A	P	-	1	0	CBX4	75422481	0.931000	0.31567	0.470000	0.27216	0.496000	0.33645	2.539000	0.45718	1.796000	0.52611	0.299000	0.19835	CCA		0.672	CBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318007.1	NM_003655		C	77807886	G	C	77807886	3	2	680	1	0	0	0	0	1	0	0	0	2722	1174	41	4	131	4	CBX4	17	77807886	Missense_Mutation	SNP	G	TCGA-IA-A40Y-01A-11D-A25F-10	11847376	77807886	3387324	70	37513											
AZI1	22994	hgsc.bcm.edu	37	17	79165083	79165083	+	Missense_Mutation	SNP	C	C	A			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr17:79165083C>A	ENST00000269392.4	-	22	2931	c.2684G>T	c.(2683-2685)gGc>gTc	p.G895V	AZI1_ENST00000374782.3_Missense_Mutation_p.G856V|AZI1_ENST00000575907.1_Missense_Mutation_p.G859V|AZI1_ENST00000450824.2_Missense_Mutation_p.G892V	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN		895					cell differentiation (GO:0030154)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|regulation of centrosome duplication (GO:0010824)|spermatogenesis (GO:0007283)	BBSome (GO:0034464)|cell projection (GO:0042995)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CTTGTCCCGGCCTTTCCGGAT	0.667																																																0													84	79	81					17																	79165083		2203	4300	6503	SO:0001583	missense	22994																														ENST00000269392.4:c.2684G>T	chr17.hg19:g.79165083C>A	ENSP00000269392:p.Gly895Val		A6NHI8|B2RN11|Q96F50	Missense_Mutation	SNP	ENST00000269392.4	hg19		.	.	.	.	.	.	.	.	.	.	C	13.17	2.157738	0.38119	.	.	ENSG00000141577	ENST00000450824;ENST00000374782;ENST00000269392	T;T;T	0.14266	2.52;2.55;2.52	4.37	0.923	0.19413	.	0.413716	0.23832	N	0.044131	T	0.06690	0.0171	L	0.29908	0.895	0.54753	D	0.999988	B;B;P;P	0.37122	0.218;0.135;0.583;0.583	B;B;B;B	0.32090	0.081;0.055;0.14;0.14	T	0.35992	-0.9766	10	0.41790	T	0.15	-20.1739	1.6764	0.02823	0.1712:0.4525:0.148:0.2282	.	892;895;856;892	B2RN10;Q9UPN4;Q9UPN4-3;Q9UPN4-2	.;AZI1_HUMAN;.;.	V	892;856;895	ENSP00000393583:G892V;ENSP00000363914:G856V;ENSP00000269392:G895V	ENSP00000269392:G895V	G	-	2	0	AZI1	76779678	0.999000	0.42202	0.994000	0.49952	0.993000	0.82548	0.828000	0.27435	0.474000	0.27392	0.491000	0.48974	GGC		0.667	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000256070.1			A	79165083	C	A	79165083	3	1	680	1	0	0	0	0	1	0	0	0	1240	739	26	4	587	4	AZI1	17	79165083	Missense_Mutation	SNP	C	TCGA-IA-A40Y-01A-11D-A25F-10	1357197	79165083	2030127	71	37514											
PGLYRP2	114770	hgsc.bcm.edu	37	19	15587343	15587343	+	Silent	SNP	G	G	T			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr19:15587343G>T	ENST00000340880.4	-	2	618	c.138C>A	c.(136-138)acC>acA	p.T46T	PGLYRP2_ENST00000292609.4_Silent_p.T46T	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	46			T -> A (in dbSNP:rs3813135). {ECO:0000269|PubMed:12975309}.		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						CTGTGTGTCTGGTCTTGGCAG	0.587																																																0													50	47	48					19																	15587343		2203	4300	6503	SO:0001819	synonymous_variant	114770			AY358156	CCDS12330.2	19p13.12	2010-04-27			ENSG00000161031	ENSG00000161031	3.5.1.28		30013	protein-coding gene	gene with protein product	"peptidoglycan recognition protein L precursor", "peptidoglycan recognition protein-like", "N-acetylmuramoyl-L-alanine amidase"	608199				11461926, 12669421, 14506276	Standard	NM_052890		Approved	PGRP-L, PGLYRPL, TAGL-like, tagL, tagL-alpha, tagl-beta, PGRPL	uc002nbf.4	Q96PD5	OTTHUMG00000150690	ENST00000340880.4:c.138C>A	chr19.hg19:g.15587343G>T			A8K050|A8K8C7|B2RMZ2|B7ZM33|Q68CK1|Q96N74|Q9UC60	Silent	SNP	ENST00000340880.4	hg19	CCDS12330.2																																																																																				0.587	PGLYRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319626.1	NM_052890		T	15587343	G	T	15587343	2	4	680	1	0	0	0	0	0	0	0	1	11796	1335	47	4		4	PGLYRP2	19	15587343	Silent	SNP	G	TCGA-IA-A40Y-01A-11D-A25F-10		15587343	43541640	72	37515											
GRAMD1A	57655	hgsc.bcm.edu	37	19	35512474	35512474	+	Missense_Mutation	SNP	C	C	T			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr19:35512474C>T	ENST00000317991.5	+	14	1736	c.1544C>T	c.(1543-1545)tCg>tTg	p.S515L	CTD-2527I21.14_ENST00000605640.1_RNA|GRAMD1A_ENST00000411896.2_Missense_Mutation_p.S508L|GRAMD1A_ENST00000599564.1_Missense_Mutation_p.S602L|GRAMD1A_ENST00000504615.2_Missense_Mutation_p.S281L	NM_020895.3	NP_065946.2	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	515						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)			GAGAAGAACTCGTGGAGCGGC	0.582																																																0													70	73	72					19																	35512474		1948	4122	6070	SO:0001583	missense	57655			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.1544C>T	chr19.hg19:g.35512474C>T	ENSP00000441032:p.Ser515Leu		A6NKY7|Q8NC77|Q9P1Z5	Missense_Mutation	SNP	ENST00000317991.5	hg19	CCDS42546.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.182600	0.57800	.	.	ENSG00000089351	ENST00000453966;ENST00000504615;ENST00000317991;ENST00000411896	T;T;T	0.22336	1.96;1.96;1.96	4.33	4.33	0.51752	.	0.086126	0.48767	D	0.000164	T	0.29458	0.0734	L	0.60455	1.87	0.42985	D	0.994471	D;P;D;D	0.62365	0.971;0.83;0.991;0.968	B;B;P;P	0.48873	0.439;0.086;0.539;0.593	T	0.07635	-1.0762	10	0.51188	T	0.08	.	14.3583	0.66752	0.0:1.0:0.0:0.0	.	515;515;281;508	Q96CP6-3;Q96CP6;B3KQF7;Q96CP6-2	.;GRM1A_HUMAN;.;.	L	601;281;515;508	ENSP00000423728:S281L;ENSP00000441032:S515L;ENSP00000439267:S508L	ENSP00000441032:S515L	S	+	2	0	GRAMD1A	40204314	0.806000	0.28996	0.955000	0.39395	0.977000	0.68977	2.268000	0.43338	2.255000	0.74692	0.491000	0.48974	TCG		0.582	GRAMD1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461557.1	NM_020895		T	35512474	C	T	35512474	3	4	680	1	0	0	0	0	1	0	0	0	6749	893	31	1	1598	1	GRAMD1A	19	35512474	Missense_Mutation	SNP	C	TCGA-IA-A40Y-01A-11D-A25F-10	19925131	35512474	23616509	73	37516											
ZNF585B	92285	hgsc.bcm.edu	37	19	37680577	37680577	+	Missense_Mutation	SNP	C	C	T			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr19:37680577C>T	ENST00000532828.2	-	4	529	c.278G>A	c.(277-279)cGt>cAt	p.R93H	ZNF585B_ENST00000531805.1_Missense_Mutation_p.R38H|ZNF585B_ENST00000312908.5_5'Flank|ZNF585B_ENST00000527838.1_Missense_Mutation_p.R93H|CTC-454I21.3_ENST00000585860.2_Missense_Mutation_p.R93H|ZNF585B_ENST00000586320.1_Missense_Mutation_p.R78H	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	93	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GCAGCTGTGACGTGGCCTCTC	0.498																																					Melanoma(93;882 1454 18863 28917 48427)											0													159	125	136					19																	37680577		2203	4300	6503	SO:0001583	missense	92285			AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680		"Zinc fingers, C2H2-type", "-"	30948	protein-coding gene	gene with protein product						12477932	Standard	NM_152279		Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.278G>A	chr19.hg19:g.37680577C>T	ENSP00000433773:p.Arg93His		Q8IZD3|Q96JW6	Missense_Mutation	SNP	ENST00000532828.2	hg19	CCDS12500.1	.	.	.	.	.	.	.	.	.	.	C	9.289	1.050057	0.19827	.	.	ENSG00000245680	ENST00000531805;ENST00000532828;ENST00000527838	T;T;T	0.09163	3.03;3.01;6.62	2.55	-1.74	0.08056	Krueppel-associated box (1);	1.911660	0.03152	N	0.168174	T	0.10937	0.0267	L	0.48218	1.51	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35076	-0.9803	10	0.33940	T	0.23	.	6.7578	0.23524	0.0:0.6143:0.0:0.3857	.	93	Q52M93	Z585B_HUMAN	H	38;93;93	ENSP00000436774:R38H;ENSP00000433773:R93H;ENSP00000435268:R93H	ENSP00000435268:R93H	R	-	2	0	ZNF585B	42372417	0.000000	0.05858	0.000000	0.03702	0.268000	0.26511	-0.529000	0.06186	-0.421000	0.07416	0.305000	0.20034	CGT		0.498	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388272.2	NM_152279		T	37680577	C	T	37680577	3	4	680	1	0	0	0	0	1	0	0	0	18023	536	19	1	2039	1	ZNF585B	19	37680577	Missense_Mutation	SNP	C	TCGA-IA-A40Y-01A-11D-A25F-10	2168103	37680577	21448406	74	37517											
AHCY	191	hgsc.bcm.edu	37	20	32873337	32873337	+	Missense_Mutation	SNP	C	C	T			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr20:32873337C>T	ENST00000217426.2	-	9	1153	c.1076G>A	c.(1075-1077)aGt>aAt	p.S359N	AHCY_ENST00000538132.1_Missense_Mutation_p.S331N|CTD-3216D2.5_ENST00000609218.1_RNA	NM_000687.2	NP_000678.1	P23526	SAHH_HUMAN	adenosylhomocysteinase	359					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						GAAGGAGTTACTCATCACGAA	0.587																																																0													91	78	82					20																	32873337		2203	4300	6503	SO:0001583	missense	191			M61832	CCDS13233.1, CCDS54457.1	20q11.22	2009-06-12	2009-06-12		ENSG00000101444	ENSG00000101444	3.3.1.1		343	protein-coding gene	gene with protein product		180960	"S-adenosylhomocysteine hydrolase"			7079734, 6580258	Standard	NM_001161766		Approved	SAHH	uc002xai.3	P23526	OTTHUMG00000140098	ENST00000217426.2:c.1076G>A	chr20.hg19:g.32873337C>T	ENSP00000217426:p.Ser359Asn		A8K307|B3KUN3|E1P5P2|F5H737|Q96A36	Missense_Mutation	SNP	ENST00000217426.2	hg19	CCDS13233.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.040615	0.93630	.	.	ENSG00000101444	ENST00000217426;ENST00000538132	T;T	0.79033	-1.23;-1.23	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	D	0.88952	0.6577	H	0.96777	3.88	0.80722	D	1	P	0.48589	0.912	P	0.48524	0.58	D	0.92976	0.6402	10	0.87932	D	0	.	18.522	0.90956	0.0:1.0:0.0:0.0	.	359	P23526	SAHH_HUMAN	N	359;331	ENSP00000217426:S359N;ENSP00000442820:S331N	ENSP00000217426:S359N	S	-	2	0	AHCY	32336998	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.701000	0.84566	2.457000	0.83068	0.650000	0.86243	AGT		0.587	AHCY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078773.2	NM_000687		T	32873337	C	T	32873337	3	4	680	1	0	0	0	0	1	0	0	0	409	565	20	2	230	2	AHCY	20	32873337	Missense_Mutation	SNP	C	TCGA-IA-A40Y-01A-11D-A25F-10		32873337	30152183	75	37518											
SMTN	6525	hgsc.bcm.edu	37	22	31484747	31484747	+	Silent	SNP	G	G	C			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr22:31484747G>C	ENST00000347557.2	+	5	575	c.357G>C	c.(355-357)cgG>cgC	p.R119R	SMTN_ENST00000358743.1_Silent_p.R119R|SMTN_ENST00000333137.7_Silent_p.R119R	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin	119					muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						GCCGTGTACGGGCTCAGGAGA	0.632											OREG0026472	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													75	63	67					22																	31484747		2202	4300	6502	SO:0001819	synonymous_variant	6525			AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963			11126	protein-coding gene	gene with protein product		602127				9244445, 8707825	Standard	NM_006932		Approved		uc011ale.2	P53814	OTTHUMG00000151203	ENST00000347557.2:c.357G>C	chr22.hg19:g.31484747G>C		825	O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	Silent	SNP	ENST00000347557.2	hg19	CCDS13886.1	.	.	.	.	.	.	.	.	.	.	G	5.557	0.287703	0.10513	.	.	ENSG00000183963	ENST00000438223	.	.	.	4.79	1.3	0.21679	.	.	.	.	.	T	0.43055	0.1230	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26744	-1.0094	4	.	.	.	-19.7875	1.9964	0.03457	0.2418:0.1338:0.4874:0.137	.	.	.	.	R	174	.	.	G	+	1	0	SMTN	29814747	1.000000	0.71417	0.975000	0.42487	0.527000	0.34593	0.687000	0.25407	0.543000	0.28864	0.655000	0.94253	GGC		0.632	SMTN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321766.1	NM_134270		C	31484747	G	C	31484747	2	2	680	1	0	0	0	0	0	0	0	1	14820	1219	43	4		4	SMTN	22	31484747	Silent	SNP	G	TCGA-IA-A40Y-01A-11D-A25F-10		31484747	19819819	76	37519											
RAC2	5880	hgsc.bcm.edu	37	22	37627391	37627391	+	Missense_Mutation	SNP	T	T	A			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr22:37627391T>A	ENST00000249071.6	-	5	449	c.328A>T	c.(328-330)Atc>Ttc	p.I110F	RAC2_ENST00000406508.1_Missense_Mutation_p.I66F|RAC2_ENST00000405484.1_Missense_Mutation_p.I103F	NM_002872.3	NP_002863.1	P15153	RAC2_HUMAN	ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)	110					actin filament organization (GO:0007015)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|cell projection assembly (GO:0030031)|G-protein coupled receptor signaling pathway (GO:0007186)|lymphocyte aggregation (GO:0071593)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neutrophil chemotaxis (GO:0090023)|regulation of cell-substrate adhesion (GO:0010810)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of neutrophil migration (GO:1902622)|regulation of respiratory burst (GO:0060263)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	12					Dextromethorphan(DB00514)	ACCAGGATGATGGGTGTGCTG	0.632																																																0													91	78	83					22																	37627391		2203	4300	6503	SO:0001583	missense	5880			M64595	CCDS13945.1	22q13.1	2014-09-17			ENSG00000128340	ENSG00000128340		"Endogenous ligands"	9802	protein-coding gene	gene with protein product		602049				2674130	Standard	NM_002872		Approved	EN-7	uc003arc.3	P15153	OTTHUMG00000150540	ENST00000249071.6:c.328A>T	chr22.hg19:g.37627391T>A	ENSP00000249071:p.Ile110Phe		Q9UDJ4	Missense_Mutation	SNP	ENST00000249071.6	hg19	CCDS13945.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.992414	0.74703	.	.	ENSG00000128340	ENST00000249071;ENST00000406508;ENST00000405484;ENST00000441619	T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68	4.98	4.98	0.66077	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.68467	0.3004	L	0.47190	1.495	0.80722	D	1	B	0.22746	0.074	B	0.36030	0.216	T	0.63554	-0.6611	10	0.22109	T	0.4	.	14.9666	0.71198	0.0:0.0:0.0:1.0	.	110	P15153	RAC2_HUMAN	F	110;66;103;110	ENSP00000249071:I110F;ENSP00000385270:I66F;ENSP00000385590:I103F;ENSP00000403778:I110F	ENSP00000249071:I110F	I	-	1	0	RAC2	35957337	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.040000	0.89188	2.003000	0.58678	0.459000	0.35465	ATC		0.632	RAC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318812.1			A	37627391	T	A	37627391	3	1	680	1	0	0	0	0	1	0	0	0	12981	1464	51	5	258	5	RAC2	22	37627391	Missense_Mutation	SNP	T	TCGA-IA-A40Y-01A-11D-A25F-10	6142644	37627391	13677175	77	37520											
SEPT6	23157	hgsc.bcm.edu	37	X	118797595	118797595	+	Missense_Mutation	SNP	T	T	A			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chrX:118797595T>A	ENST00000343984.5	-	3	455	c.191A>T	c.(190-192)aAc>aTc	p.N64I	SEPT6_ENST00000489216.1_Missense_Mutation_p.N64I|SEPT6_ENST00000394617.2_Missense_Mutation_p.N94I|SEPT6_ENST00000360156.7_Missense_Mutation_p.N64I|SEPT6_ENST00000354416.3_Missense_Mutation_p.N64I|SEPT6_ENST00000394616.4_Missense_Mutation_p.N6I|SEPT6_ENST00000394610.1_Missense_Mutation_p.N64I|SEPT6_ENST00000354228.4_Missense_Mutation_p.N64I	NM_015129.5	NP_055944.2	Q14141	SEPT6_HUMAN	septin 6	64	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						GAATTTGGTGTTGAACAGGGT	0.502			T	MLL	AML																																		Dom	yes		X	Xq24	23157	septin 6		L	0													213	198	203					X																	118797595		2203	4300	6503	SO:0001583	missense	23157			D50918	CCDS14583.1, CCDS14584.1, CCDS14585.1	Xq24	2013-01-21			ENSG00000125354	ENSG00000125354		"Septins"	15848	protein-coding gene	gene with protein product		300683				8590280, 10744683	Standard	NM_015129		Approved	KIAA0128, SEP2, SEPT2, MGC16619, MGC20339	uc004erv.3	Q14141	OTTHUMG00000022280	ENST00000343984.5:c.191A>T	chrX.hg19:g.118797595T>A	ENSP00000341524:p.Asn64Ile		Q5JTK0|Q969W5|Q96A13|Q96GR1|Q96P86|Q96P87	Missense_Mutation	SNP	ENST00000343984.5	hg19	CCDS14584.1	.	.	.	.	.	.	.	.	.	.	t	21.9	4.214865	0.79352	.	.	ENSG00000125354	ENST00000360156;ENST00000354228;ENST00000489216;ENST00000354416;ENST00000394610;ENST00000343984;ENST00000394616;ENST00000394617;ENST00000520510	T;T;T;T;T;T;D;T	0.81739	1.28;1.28;1.28;1.28;1.28;1.28;-1.53;1.28	4.47	4.47	0.54385	.	0.081767	0.85682	D	0.000000	D	0.91415	0.7291	H	0.94925	3.6	0.80722	D	1	D;P;D;D	0.60575	0.973;0.922;0.961;0.988	P;P;P;D	0.67548	0.894;0.908;0.864;0.952	D	0.93282	0.6661	10	0.72032	D	0.01	.	12.648	0.56746	0.0:0.0:0.0:1.0	.	94;6;64;64	F5H1J5;B4E049;Q14141;Q548C9	.;.;SEPT6_HUMAN;.	I	64;64;64;64;64;64;6;94;64	ENSP00000353278:N64I;ENSP00000346169:N64I;ENSP00000418715:N64I;ENSP00000346397:N64I;ENSP00000378108:N64I;ENSP00000341524:N64I;ENSP00000378114:N6I;ENSP00000378115:N94I	ENSP00000341524:N64I	N	-	2	0	SEPT6	118681623	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.649000	0.83500	1.736000	0.51660	0.483000	0.47432	AAC		0.502	SEPT6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058059.1	NM_145802		A	118797595	T	A	118797595	3	1	680	1	0	0	0	0	1	0	0	0	14074	1725	60	5	1167	5	SEPT6	23	118797595	Missense_Mutation	SNP	T	TCGA-IA-A40Y-01A-11D-A25F-10		118797595	36472965	78	37521											
PRDM16	63976	hgsc.bcm.edu	37	1	3322089	3322089	+	Missense_Mutation	SNP	C	C	A			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr1:3322089C>A	ENST00000270722.5	+	8	1112	c.1063C>A	c.(1063-1065)Cac>Aac	p.H355N	PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000378391.2_Missense_Mutation_p.H355N|PRDM16_ENST00000442529.2_Missense_Mutation_p.H355N|PRDM16_ENST00000511072.1_Missense_Mutation_p.H356N|PRDM16_ENST00000514189.1_Missense_Mutation_p.H356N|PRDM16_ENST00000441472.2_Missense_Mutation_p.H355N|PRDM16_ENST00000378398.3_Missense_Mutation_p.H356N			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	355					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)		CCTTCAGCGGCACATCCGCTC	0.687			T	EVI1	"MDS, AML"																																		Dom	yes		1	1p36.23-p33	63976	PR domain containing 16		L	0													35	40	38					1																	3322089		2201	4297	6498	SO:0001583	missense	63976			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.1063C>A	chr1.hg19:g.3322089C>A	ENSP00000270722:p.His355Asn		A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Missense_Mutation	SNP	ENST00000270722.5	hg19	CCDS41236.2	.	.	.	.	.	.	.	.	.	.	C	33	5.250276	0.95305	.	.	ENSG00000142611	ENST00000511072;ENST00000378398;ENST00000441472;ENST00000442529;ENST00000378391;ENST00000514189;ENST00000270722;ENST00000512462;ENST00000408992;ENST00000509860	D;D;D;D;D;D;D;D;D	0.99974	-10.2;-10.2;-10.2;-10.2;-10.2;-10.2;-10.2;-10.2;-10.2	4.56	4.56	0.56223	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.49916	U	0.000138	D	0.99981	0.9994	H	0.96916	3.905	0.58432	D	0.999998	D;D;D;D	0.76494	0.997;0.992;0.997;0.999	D;P;D;D	0.73380	0.948;0.843;0.956;0.98	D	0.97889	1.0296	10	0.87932	D	0	.	17.307	0.87198	0.0:1.0:0.0:0.0	.	355;355;355;355	Q9HAZ2;Q9HAZ2-2;F8WEV3;D3YTA5	PRD16_HUMAN;.;.;.	N	356;356;355;355;355;356;355;171;171;164	ENSP00000426975:H356N;ENSP00000367651:H356N;ENSP00000407968:H355N;ENSP00000405253:H355N;ENSP00000367643:H355N;ENSP00000421400:H356N;ENSP00000270722:H355N;ENSP00000422504:H171N;ENSP00000425796:H164N	ENSP00000270722:H355N	H	+	1	0	PRDM16	3311949	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.677000	0.84024	2.066000	0.61787	0.491000	0.48974	CAC		0.687	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114		A	3322089	C	A	3322089	3	1	681	1	0	0	0	0	1	0	0	0	12462	710	25	4	1093	4	PRDM16	1	3322089	Missense_Mutation	SNP	C	TCGA-IA-A83S-01A-11D-A34Z-10		3322089	245928532	1	37522											
TNFRSF8	943	hgsc.bcm.edu	37	1	12169703	12169703	+	Missense_Mutation	SNP	G	G	C			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr1:12169703G>C	ENST00000263932.2	+	5	724	c.502G>C	c.(502-504)Gaa>Caa	p.E168Q	TNFRSF8_ENST00000417814.2_Missense_Mutation_p.E57Q	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	168					cellular response to mechanical stimulus (GO:0071260)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of TRAIL biosynthetic process (GO:0045556)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Brentuximab vedotin(DB08870)	GAACTGCAAGGAACCCTCCAG	0.647																																																0													49	51	50					1																	12169703		2203	4300	6503	SO:0001583	missense	943			M83554	CCDS144.1, CCDS59989.1	1p36	2008-02-05			ENSG00000120949	ENSG00000120949		"Tumor necrosis factor receptor superfamily", "CD molecules"	11923	protein-coding gene	gene with protein product		153243		CD30, D1S166E		1330892, 1310894	Standard	XM_006711049		Approved	KI-1	uc001atq.3	P28908	OTTHUMG00000001827	ENST00000263932.2:c.502G>C	chr1.hg19:g.12169703G>C	ENSP00000263932:p.Glu168Gln		B1AN79|B9EGD9|D3YTD8|Q6P4D9	Missense_Mutation	SNP	ENST00000263932.2	hg19	CCDS144.1	.	.	.	.	.	.	.	.	.	.	.	5.361	0.251949	0.10185	.	.	ENSG00000120949	ENST00000263932;ENST00000417814	T;T	0.06528	3.29;3.29	3.86	-4.19	0.03835	.	3.622260	0.00732	N	0.000951	T	0.02727	0.0082	N	0.08118	0	0.09310	N	1	B;B	0.13594	0.008;0.004	B;B	0.14578	0.011;0.003	T	0.35748	-0.9776	10	0.12766	T	0.61	-0.0897	1.4258	0.02323	0.4681:0.1472:0.2362:0.1485	.	57;168	D3YTD8;P28908	.;TNR8_HUMAN	Q	168;57	ENSP00000263932:E168Q;ENSP00000390650:E57Q	ENSP00000263932:E168Q	E	+	1	0	TNFRSF8	12092290	0.000000	0.05858	0.000000	0.03702	0.236000	0.25371	0.010000	0.13242	-0.870000	0.04047	-0.244000	0.11960	GAA		0.647	TNFRSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005130.1			C	12169703	G	C	12169703	3	2	681	1	0	0	0	0	1	0	0	0	16304	1175	41	4	520	4	TNFRSF8	1	12169703	Missense_Mutation	SNP	G	TCGA-IA-A83S-01A-11D-A34Z-10	8847614	12169703	237080918	2	37523											
ARID1A	8289	hgsc.bcm.edu	37	1	27056261	27056261	+	Silent	SNP	G	G	T			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr1:27056261G>T	ENST00000324856.7	+	2	1628	c.1257G>T	c.(1255-1257)ggG>ggT	p.G419G	ARID1A_ENST00000374152.2_Silent_p.G36G|ARID1A_ENST00000457599.2_Silent_p.G419G	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	419					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)		GGTACCCAGGGCAGCCATACG	0.622			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																		Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0													57	61	59					1																	27056261		2203	4300	6503	SO:0001819	synonymous_variant	8289			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.1257G>T	chr1.hg19:g.27056261G>T			D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Silent	SNP	ENST00000324856.7	hg19	CCDS285.1																																																																																				0.622	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		T	27056261	G	T	27056261	2	4	681	1	0	0	0	0	0	0	0	1	913	1190	42	4		4	ARID1A	1	27056261	Silent	SNP	G	TCGA-IA-A83S-01A-11D-A34Z-10	14886558	27056261	222194360	3	37524											
DAB1	1600	hgsc.bcm.edu	37	1	57610985	57610985	+	Missense_Mutation	SNP	T	T	C			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr1:57610985T>C	ENST00000371231.1	-	2	219	c.185A>G	c.(184-186)cAa>cGa	p.Q62R	DAB1_ENST00000420954.2_Missense_Mutation_p.Q62R|DAB1_ENST00000371230.1_Missense_Mutation_p.Q62R|DAB1_ENST00000439789.2_Missense_Mutation_p.Q62R|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371236.2_Missense_Mutation_p.Q62R|DAB1_ENST00000371234.4_Missense_Mutation_p.Q62R|DAB1_ENST00000414851.2_Missense_Mutation_p.Q62R			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	62	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						CATGGAATCTTGACATAACTT	0.393																																																0													146	128	134					1																	57610985		2203	4300	6503	SO:0001583	missense	1600			BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"disabled (Drosophila) homolog 1", "disabled homolog 1 (Drosophila)", "Dab, reelin signal transducer, homolog 1 (Drosophila)", "Dab reelin signal transducer 1"			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.185A>G	chr1.hg19:g.57610985T>C	ENSP00000360275:p.Gln62Arg		A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Missense_Mutation	SNP	ENST00000371231.1	hg19		.	.	.	.	.	.	.	.	.	.	T	29.1	4.976972	0.92982	.	.	ENSG00000173406	ENST00000371236;ENST00000371233;ENST00000371234;ENST00000420954;ENST00000414851;ENST00000439789;ENST00000371231;ENST00000371232;ENST00000332102;ENST00000371230	T;T;T;T;T;T;T;T;T	0.19394	2.15;2.15;2.15;2.15;2.15;2.15;2.15;2.15;2.15	5.49	5.49	0.81192	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.38825	0.1055	L	0.39514	1.22	0.46356	D	0.999002	D;D;D;P;D	0.76494	0.999;0.996;0.992;0.768;0.992	D;D;D;P;D	0.85130	0.997;0.991;0.984;0.806;0.989	T	0.15925	-1.0420	10	0.66056	D	0.02	-28.791	15.5959	0.76578	0.0:0.0:0.0:1.0	.	62;62;62;62;62	O75553-4;O75553;O75553-6;O75553-3;O75553-5	.;DAB1_HUMAN;.;.;.	R	62	ENSP00000360280:Q62R;ENSP00000360278:Q62R;ENSP00000395296:Q62R;ENSP00000387581:Q62R;ENSP00000409328:Q62R;ENSP00000360275:Q62R;ENSP00000360276:Q62R;ENSP00000329120:Q62R;ENSP00000360274:Q62R	ENSP00000329120:Q62R	Q	-	2	0	DAB1	57383573	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	8.036000	0.88901	2.079000	0.62486	0.533000	0.62120	CAA		0.393	DAB1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027962.1	NM_021080		C	57610985	T	C	57610985	3	2	681	1	0	0	0	0	1	0	0	0	4219	1812	63	3	1530	3	DAB1	1	57610985	Missense_Mutation	SNP	T	TCGA-IA-A83S-01A-11D-A34Z-10	30554724	57610985	191639636	4	37525											
DNAJC6	9829	hgsc.bcm.edu	37	1	65830460	65830461	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	TG	TG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr1:65830460_65830461delTG	ENST00000395325.3	+	2	322_323	c.165_166delTG	c.(163-168)tctgtgfs	p.V56fs	DNAJC6_ENST00000371069.4_Frame_Shift_Del_p.V113fs|DNAJC6_ENST00000263441.7_Frame_Shift_Del_p.V43fs	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	56	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				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						TGATACAATCTGTGACCAGGTA	0.45																																																0																																										SO:0001589	frameshift_variant	9829			AB007942	CCDS30739.1, CCDS58004.1, CCDS58005.1	1p31.3	2011-09-02			ENSG00000116675	ENSG00000116675		"Heat shock proteins / DNAJ (HSP40)"	15469	protein-coding gene	gene with protein product	"auxilin"	608375				9455484, 11147971	Standard	NM_001256864		Approved	KIAA0473	uc001dce.2	O75061	OTTHUMG00000009066	ENST00000395325.3:c.165_166delTG	chr1.hg19:g.65830462_65830463delTG	ENSP00000378735:p.Val56fs		B7Z3V8|D3DQ65|D3DQ66|Q32M66|Q4G0K1|Q5T614|Q5T615	Frame_Shift_Del	DEL	ENST00000395325.3	hg19	CCDS30739.1																																																																																				0.45	DNAJC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025134.1			-	65830461	TG	-	65830460	7	5	681	1	0	1	0	1	0	0	0	0	4655	1567	55	0	171	0	DNAJC6	1	65830460	Frame_Shift_Del	DEL	TG	TCGA-IA-A83S-01A-11D-A34Z-10	8219475	65830460	183420161	5	37526											
FUBP1	8880	hgsc.bcm.edu	37	1	78425867	78425892	+	Splice_Site	DEL	CTTCTACCTGGATCAGGAGGAGCCTG	CTTCTACCTGGATCAGGAGGAGCCTG	-	rs149973677		TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	CTTCTACCTGGATCAGGAGGAGCCTG	CTTCTACCTGGATCAGGAGGAGCCTG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr1:78425867_78425892delCTTCTACCTGGATCAGGAGGAGCCTG	ENST00000370768.2	-	16	1634_1658	c.1553_1577delCAGGCTCCTCCTGATCCAGGTAGAAG	c.(1552-1578)ccaggctcctcctgatccaggtagaag>cg	p.PGSS*SR*K518fs	FUBP1_ENST00000370767.1_Splice_Site_p.PGSS*SR*K518fs|FUBP1_ENST00000436586.2_Splice_Site_p.PGSS*SR*K539fs	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	518	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)	p.Q520*(1)		central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						AGCATCTTCTACCTGGATCAGGAGGAGCCTGCTGCTGCCAGTGTGG	0.403			"F, N"		oligodendroglioma																																		Rec	yes		1	1p13.1	8880	far upstream element (FUSE) binding protein 1		O	1	Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(1)																																								SO:0001630	splice_region_variant	8880			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.1576+1CAGGCTCCTCCTGATCCAGGTAGAAG>-	chr1.hg19:g.78425867_78425892delCTTCTACCTGGATCAGGAGGAGCCTG			Q12828	In_Frame_Del	DEL	ENST00000370768.2	hg19	CCDS683.1																																																																																				0.403	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902	Frame_Shift_Del	-	78425892	CTTCTACCTGGATCAGGAGGAGCCTG	-	78425867	8	5	681	1	0	1	0	1	0	0	1	0	6094	405	14	0	376	0	FUBP1	1	78425867	Splice_Site	DEL	CTTCTACCTGGATCAGGAGGAGCCTG	TCGA-IA-A83S-01A-11D-A34Z-10	12595407	78425867	170824754	6	37527											
SYCP1	6847	hgsc.bcm.edu	37	1	115428830	115428830	+	Missense_Mutation	SNP	G	G	C			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr1:115428830G>C	ENST00000369522.3	+	14	1330	c.1090G>C	c.(1090-1092)Gaa>Caa	p.E364Q	SYCP1_ENST00000369518.1_Missense_Mutation_p.E364Q	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	364					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)		AACTCAAATGGAAGAATCTAA	0.338																																																0													79	86	84					1																	115428830		2203	4300	6503	SO:0001583	missense	6847			D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"cancer/testis antigen 8"	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.1090G>C	chr1.hg19:g.115428830G>C	ENSP00000358535:p.Glu364Gln		O14963|Q5VXJ6	Missense_Mutation	SNP	ENST00000369522.3	hg19	CCDS879.1	.	.	.	.	.	.	.	.	.	.	G	17.88	3.497246	0.64186	.	.	ENSG00000198765	ENST00000369522;ENST00000536734;ENST00000455987;ENST00000369518	T;T;T	0.56611	0.45;0.45;0.45	5.83	5.83	0.93111	.	0.110634	0.64402	D	0.000012	T	0.64057	0.2564	M	0.72894	2.215	0.41456	D	0.988014	D;D	0.69078	0.997;0.997	D;D	0.65323	0.934;0.934	T	0.65319	-0.6197	10	0.54805	T	0.06	-7.2709	15.6081	0.76689	0.0:0.0:1.0:0.0	.	364;364	B7ZLS9;Q15431	.;SYCP1_HUMAN	Q	364	ENSP00000358535:E364Q;ENSP00000410011:E364Q;ENSP00000358531:E364Q	ENSP00000358531:E364Q	E	+	1	0	SYCP1	115230353	1.000000	0.71417	1.000000	0.80357	0.669000	0.39330	4.056000	0.57448	2.746000	0.94184	0.561000	0.74099	GAA		0.338	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176		C	115428830	G	C	115428830	3	2	681	1	0	0	0	0	1	0	0	0	15436	1175	41	4	1140	4	SYCP1	1	115428830	Missense_Mutation	SNP	G	TCGA-IA-A83S-01A-11D-A34Z-10	37002963	115428830	133821791	7	37528											
CD1C	911	hgsc.bcm.edu	37	1	158262079	158262080	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr1:158262079_158262080insAA	ENST00000368170.3	+	3	813_814	c.534_535insAA	c.(535-537)aatfs	p.N179fs		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	179					antigen processing and presentation (GO:0019882)|T cell activation involved in immune response (GO:0002286)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	endogenous lipid antigen binding (GO:0030883)|exogenous lipid antigen binding (GO:0030884)|glycolipid binding (GO:0051861)|lipopeptide binding (GO:0071723)			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					AAACAGTGTATAATCTCATAAG	0.475																																																0																																										SO:0001589	frameshift_variant	911			M28827	CCDS1175.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158481	ENSG00000158481		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1636	protein-coding gene	gene with protein product		188340	"CD1C antigen, c polypeptide", "CD1c antigen"	CD1		2447586	Standard	NM_001765		Approved		uc001fru.3	P29017	OTTHUMG00000017514	ENST00000368170.3:c.535_536dupAA	chr1.hg19:g.158262080_158262081dupAA	ENSP00000357152:p.Asn179fs		Q5TDJ7|Q6IAS4|Q9UMM0|Q9UN96	Frame_Shift_Ins	INS	ENST00000368170.3	hg19	CCDS1175.1																																																																																				0.475	CD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046351.2	NM_001765		AA	158262080	-	AA	158262079	7	5	681	1	0	1	1	0	0	0	0	0	2978	1413	49	0	544	0	CD1C	1	158262079	Frame_Shift_Ins	INS	-	TCGA-IA-A83S-01A-11D-A34Z-10	42833249	158262079	90988542	8	37529											
C1orf110	339512	hgsc.bcm.edu	37	1	162825494	162825494	+	Missense_Mutation	SNP	C	C	G			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr1:162825494C>G	ENST00000367910.1	-	3	362	c.242G>C	c.(241-243)aGa>aCa	p.R81T	C1orf110_ENST00000367912.2_Missense_Mutation_p.R80T|C1orf110_ENST00000367911.2_Missense_Mutation_p.R76T|C1orf110_ENST00000524691.1_5'UTR	NM_178550.4	NP_848645.3	Q86UF4	CA110_HUMAN	chromosome 1 open reading frame 110	81										endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						ATCTTCTGGTCTCTTCTGAAA	0.413																																																0													121	110	114					1																	162825494		1883	4108	5991	SO:0001583	missense	339512			BC040018	CCDS44269.1	1q23.3	2012-06-26			ENSG00000185860	ENSG00000185860			28736	protein-coding gene	gene with protein product						12477932	Standard	NM_178550		Approved	MGC48998	uc001gck.2	Q86UF4	OTTHUMG00000034421	ENST00000367910.1:c.242G>C	chr1.hg19:g.162825494C>G	ENSP00000356886:p.Arg81Thr		Q5JSG1|Q6ZW57	Missense_Mutation	SNP	ENST00000367910.1	hg19	CCDS44269.1	.	.	.	.	.	.	.	.	.	.	C	15.19	2.760276	0.49468	.	.	ENSG00000185860	ENST00000367912;ENST00000367911;ENST00000367910	.	.	.	4.33	1.45	0.22620	.	0.482216	0.19466	N	0.113574	T	0.43964	0.1271	M	0.67953	2.075	0.32586	N	0.527883	D;D	0.63046	0.992;0.992	P;P	0.60541	0.876;0.876	T	0.42816	-0.9429	8	0.87932	D	0	-7.4143	5.7335	0.18053	0.0:0.6659:0.0:0.3341	.	80;81	Q86UF4-2;Q86UF4	.;CA110_HUMAN	T	80;76;81	.	ENSP00000356886:R81T	R	-	2	0	C1orf110	161092118	0.112000	0.22096	0.077000	0.20336	0.980000	0.70556	-0.042000	0.12063	0.559000	0.29153	0.655000	0.94253	AGA		0.413	C1orf110-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083211.2	NM_178550		G	162825494	C	G	162825494	3	3	681	1	0	0	0	0	1	0	0	0	1985	913	32	4	674	4	C1orf110	1	162825494	Missense_Mutation	SNP	C	TCGA-IA-A83S-01A-11D-A34Z-10	4563415	162825494	86425127	9	37530											
TROVE2	6738	hgsc.bcm.edu	37	1	193038376	193038376	+	Missense_Mutation	SNP	G	G	T			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr1:193038376G>T	ENST00000367446.3	+	2	402	c.192G>T	c.(190-192)ttG>ttT	p.L64F	TROVE2_ENST00000367444.3_Missense_Mutation_p.L64F|TROVE2_ENST00000432079.1_Intron|TROVE2_ENST00000400968.2_Missense_Mutation_p.L64F|TROVE2_ENST00000460715.2_Intron|TROVE2_ENST00000416058.2_5'UTR|TROVE2_ENST00000367445.3_Missense_Mutation_p.L64F|TROVE2_ENST00000367443.1_Missense_Mutation_p.L64F|TROVE2_ENST00000367441.1_Missense_Mutation_p.L64F	NM_004600.5	NP_004591.2	P10155	RO60_HUMAN	TROVE domain family, member 2	64	TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				cilium morphogenesis (GO:0060271)|immune system development (GO:0002520)|response to UV (GO:0009411)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|RNA binding (GO:0003723)|U2 snRNA binding (GO:0030620)	p.L64F(1)		biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						TAATTAGATTGATTGAAGATG	0.398																																																1	Substitution - Missense(1)	lung(1)											64	59	61					1																	193038376		1881	4119	6000	SO:0001583	missense	6738			BC036658	CCDS41449.1, CCDS1379.1, CCDS41450.1, CCDS41450.2, CCDS53451.1	1q31	2014-08-06	2005-06-14	2005-06-14	ENSG00000116747	ENSG00000116747			11313	protein-coding gene	gene with protein product		600063	"Sjogren syndrome antigen A2 (60kDa, ribonucleoprotein autoantigen SS-A/Ro)"	SSA2		8188321	Standard	NM_001042369		Approved	Ro60	uc001gss.3	P10155	OTTHUMG00000035675	ENST00000367446.3:c.192G>T	chr1.hg19:g.193038376G>T	ENSP00000356416:p.Leu64Phe		B2RBB9|Q5LJ98|Q5LJ99|Q5LJA0|Q86WL3|Q86WL4|Q92787|Q9H1W6	Missense_Mutation	SNP	ENST00000367446.3	hg19	CCDS1379.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.525859	0.64860	.	.	ENSG00000116747	ENST00000400968;ENST00000367446;ENST00000367443;ENST00000367445;ENST00000367444;ENST00000367441;ENST00000512587	T;T;T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27;2.27;2.27	5.6	5.6	0.85130	TROVE (2);	0.075418	0.53938	D	0.000050	T	0.39759	0.1090	M	0.75447	2.3	0.80722	D	1	D;D;D;D	0.89917	0.978;0.992;1.0;1.0	D;D;D;D	0.77557	0.941;0.941;0.99;0.99	T	0.11792	-1.0573	10	0.51188	T	0.08	-9.6748	10.9958	0.47575	0.0:0.1392:0.7166:0.1442	.	64;64;64;64	Q5LJ99;Q5LJ98;Q5LJA0;P10155	.;.;.;RO60_HUMAN	F	64;64;64;64;64;64;5	ENSP00000383752:L64F;ENSP00000356416:L64F;ENSP00000356413:L64F;ENSP00000356415:L64F;ENSP00000356414:L64F;ENSP00000356411:L64F;ENSP00000424612:L5F	ENSP00000356411:L64F	L	+	3	2	TROVE2	191304999	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.829000	0.27449	2.648000	0.89879	0.557000	0.71058	TTG		0.398	TROVE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086688.1	NM_004600		T	193038376	G	T	193038376	3	4	681	1	0	0	0	0	1	0	0	0	16581	1281	45	4	194	4	TROVE2	1	193038376	Missense_Mutation	SNP	G	TCGA-IA-A83S-01A-11D-A34Z-10	30212882	193038376	56212245	10	37531											
PYCR2	29920	hgsc.bcm.edu	37	1	226111423	226111423	+	Missense_Mutation	SNP	A	A	G			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr1:226111423A>G	ENST00000343818.6	-	2	264	c.116T>C	c.(115-117)cTg>cCg	p.L39P	RP4-559A3.7_ENST00000432920.2_Missense_Mutation_p.L39P|PYCR2_ENST00000478402.1_5'UTR	NM_013328.2	NP_037460.2	Q96C36	P5CR2_HUMAN	pyrroline-5-carboxylate reductase family, member 2	39					L-proline biosynthetic process (GO:0055129)	cytoplasm (GO:0005737)	pyrroline-5-carboxylate reductase activity (GO:0004735)			kidney(1)|lung(3)	4	Breast(184;0.197)				L-Proline(DB00172)	CACCGTGGGCAGGTTCATTTC	0.612																																																0													47	51	49					1																	226111423		2203	4300	6503	SO:0001583	missense	29920			AF151351	CCDS31043.1, CCDS73039.1	1q42.13	2008-02-05			ENSG00000143811	ENSG00000143811			30262	protein-coding gene	gene with protein product						12477932	Standard	NM_013328		Approved	P5CR2	uc001hpq.4	Q96C36	OTTHUMG00000037506	ENST00000343818.6:c.116T>C	chr1.hg19:g.226111423A>G	ENSP00000342502:p.Leu39Pro		A8K798|Q7Z515|Q9Y5J4	Missense_Mutation	SNP	ENST00000343818.6	hg19	CCDS31043.1	.	.	.	.	.	.	.	.	.	.	a	28.5	4.921791	0.92319	.	.	ENSG00000255835;ENSG00000143811	ENST00000432920;ENST00000343818	T;T	0.42131	0.98;0.98	4.36	4.36	0.52297	NAD(P)-binding domain (1);	0.000000	0.64402	D	0.000001	T	0.53850	0.1822	L	0.45581	1.43	0.80722	D	1	D;B	0.76494	0.999;0.004	D;B	0.72982	0.979;0.005	T	0.50996	-0.8761	9	.	.	.	-10.908	11.8145	0.52202	1.0:0.0:0.0:0.0	.	39;39	E7EUD8;Q96C36	.;P5CR2_HUMAN	P	39	ENSP00000414068:L39P;ENSP00000342502:L39P	.	L	-	2	0	PYCR2;RP4-559A3.7	224178046	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.530000	0.90606	1.963000	0.57068	0.533000	0.62120	CTG		0.612	PYCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091314.1	NM_013328		G	226111423	A	G	226111423	3	3	681	1	0	0	0	0	1	0	0	0	12862	188	7	3	870	3	PYCR2	1	226111423	Missense_Mutation	SNP	A	TCGA-IA-A83S-01A-11D-A34Z-10	33073047	226111423	23139198	11	37532											
GRHL1	29841	hgsc.bcm.edu	37	2	10139100	10139100	+	Missense_Mutation	SNP	A	A	G			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr2:10139100A>G	ENST00000324907.9	+	15	1821	c.1685A>G	c.(1684-1686)gAc>gGc	p.D562G	GRHL1_ENST00000324883.5_Missense_Mutation_p.D373G|GRHL1_ENST00000405379.2_Missense_Mutation_p.D562G|GRHL1_ENST00000480736.1_Missense_Mutation_p.D16G	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	562					cellular lipid metabolic process (GO:0044255)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		TAGATCTCAGACAAATACGAT	0.353																																																0													49	45	47					2																	10139100		2203	4300	6503	SO:0001583	missense	29841			AF198489	CCDS33144.1, CCDS33144.2	2p25.2	2008-02-05	2005-07-11	2005-07-11	ENSG00000134317	ENSG00000134317			17923	protein-coding gene	gene with protein product		609786	"transcription factor CP2-like 2"	TFCP2L2		10644752, 12393799	Standard	NM_198182		Approved	LBP-32, MGR	uc002raa.3	Q9NZI5	OTTHUMG00000151704	ENST00000324907.9:c.1685A>G	chr2.hg19:g.10139100A>G	ENSP00000324693:p.Asp562Gly		A6NLA4|B2R7E4|B5MEC2|Q53T93|Q6NWN7|Q6NWN8|Q6NWN9|Q8NI33	Missense_Mutation	SNP	ENST00000324907.9	hg19	CCDS33144.2	.	.	.	.	.	.	.	.	.	.	A	16.90	3.248796	0.59103	.	.	ENSG00000134317	ENST00000405379;ENST00000324883;ENST00000324907;ENST00000480736	T;T;T	0.17691	2.74;2.26;2.74	5.34	5.34	0.76211	.	0.047940	0.85682	D	0.000000	T	0.17789	0.0427	L	0.40543	1.245	0.80722	D	1	B;B	0.13145	0.007;0.001	B;B	0.17098	0.017;0.005	T	0.02150	-1.1205	10	0.72032	D	0.01	-11.0287	15.269	0.73683	1.0:0.0:0.0:0.0	.	373;562	Q9NZI5-2;Q9NZI5	.;GRHL1_HUMAN	G	562;373;562;16	ENSP00000384209:D562G;ENSP00000324494:D373G;ENSP00000324693:D562G	ENSP00000324494:D373G	D	+	2	0	GRHL1	10056551	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	8.630000	0.90987	2.138000	0.66242	0.482000	0.46254	GAC		0.353	GRHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323543.2	NM_014552		G	10139100	A	G	10139100	3	3	681	1	0	0	0	0	1	0	0	0	6765	275	10	3	1743	3	GRHL1	2	10139100	Missense_Mutation	SNP	A	TCGA-IA-A83S-01A-11D-A34Z-10		10139100	233060273	12	37533											
ITSN2	50618	hgsc.bcm.edu	37	2	24535083	24535086	+	Frame_Shift_Del	DEL	AAAC	AAAC	-			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	AAAC	AAAC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr2:24535083_24535086delAAAC	ENST00000355123.4	-	5	790_793	c.347_350delGTTT	c.(346-351)cgttttfs	p.RF116fs	ITSN2_ENST00000407704.1_5'UTR|ITSN2_ENST00000361999.3_Frame_Shift_Del_p.RF116fs|ITSN2_ENST00000406921.3_Frame_Shift_Del_p.RF116fs	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	116					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)					ATACTTACCAAAACGAGCAGAAAT	0.353																																																0																																										SO:0001589	frameshift_variant	50618			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.347_350delGTTT	chr2.hg19:g.24535083_24535086delAAAC	ENSP00000347244:p.Arg116fs		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Frame_Shift_Del	DEL	ENST00000355123.4	hg19	CCDS1710.2																																																																																				0.353	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		-	24535086	AAAC	-	24535083	7	5	681	1	0	1	0	1	0	0	0	0	7929	14	1	0	4938	0	ITSN2	2	24535083	Frame_Shift_Del	DEL	AAAC	TCGA-IA-A83S-01A-11D-A34Z-10	14395983	24535083	218664290	13	37534	284	2									
ITSN2	50618	hgsc.bcm.edu	37	2	24535088	24535094	+	Frame_Shift_Del	DEL	AGCAGAA	AGCAGAA	-			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	AGCAGAA	AGCAGAA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr2:24535088_24535094delAGCAGAA	ENST00000355123.4	-	5	782_788	c.339_345delTTCTGCT	c.(337-345)atttctgctfs	p.ISA113fs	ITSN2_ENST00000407704.1_5'UTR|ITSN2_ENST00000361999.3_Frame_Shift_Del_p.ISA113fs|ITSN2_ENST00000406921.3_Frame_Shift_Del_p.ISA113fs	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	113					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)					TACCAAAACGAGCAGAAATTAATGGAG	0.357																																																0																																										SO:0001589	frameshift_variant	50618			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.339_345delTTCTGCT	chr2.hg19:g.24535088_24535094delAGCAGAA	ENSP00000347244:p.Ile113fs		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Frame_Shift_Del	DEL	ENST00000355123.4	hg19	CCDS1710.2																																																																																				0.357	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		-	24535094	AGCAGAA	-	24535088	7	5	681	1	0	1	0	1	0	0	0	0	7929	291	11	0	4943	0	ITSN2	2	24535088	Frame_Shift_Del	DEL	AGCAGAA	TCGA-IA-A83S-01A-11D-A34Z-10	5	24535088	218664285	14	37535	284	2									
ATL2	64225	hgsc.bcm.edu	37	2	38527436	38527436	+	Missense_Mutation	SNP	G	G	C			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr2:38527436G>C	ENST00000378954.4	-	10	1107	c.1106C>G	c.(1105-1107)cCa>cGa	p.P369R	ATL2_ENST00000406122.1_Missense_Mutation_p.P198R|ATL2_ENST00000419554.2_Missense_Mutation_p.P369R|ATL2_ENST00000539122.1_Missense_Mutation_p.P198R|ATL2_ENST00000452935.2_Missense_Mutation_p.P351R|ATL2_ENST00000546051.1_Missense_Mutation_p.P198R|ATL2_ENST00000332337.4_Missense_Mutation_p.P351R|ATL2_ENST00000402054.1_Missense_Mutation_p.P198R	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2	369					endoplasmic reticulum organization (GO:0007029)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						CTTTGGATGTGGAAGTTCTTC	0.373																																																0													143	141	142					2																	38527436		2203	4300	6503	SO:0001583	missense	64225				CCDS1795.1, CCDS46260.1	2p22.3	2008-09-17	2008-09-17	2008-09-17	ENSG00000119787	ENSG00000119787			24047	protein-coding gene	gene with protein product		609368	"ADP-ribosylation factor-like 6 interacting protein 2"	ARL6IP2		10508919, 18270207	Standard	NM_022374		Approved		uc002rqq.3	Q8NHH9	OTTHUMG00000102074	ENST00000378954.4:c.1106C>G	chr2.hg19:g.38527436G>C	ENSP00000368237:p.Pro369Arg		B7Z1X2|B7Z7X8|Q4ZG30|Q7Z630|Q8NHH8|Q9H5M7	Missense_Mutation	SNP	ENST00000378954.4	hg19	CCDS46260.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.709464	0.89018	.	.	ENSG00000119787	ENST00000378954;ENST00000406122;ENST00000402054;ENST00000539122;ENST00000332337;ENST00000419554;ENST00000452935;ENST00000546051	T;T;T;T;T;T;T;T	0.20463	2.07;2.07;2.07;2.07;2.07;2.07;2.07;2.07	5.51	5.51	0.81932	Guanylate-binding protein, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.56673	0.2001	M	0.89601	3.045	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	0.64859	-0.6308	10	0.87932	D	0	-13.0964	18.7695	0.91885	0.0:0.0:1.0:0.0	.	198;351;351;369;369	B5MCN0;B7Z7X8;Q8NHH9-4;Q8NHH9-2;Q8NHH9	.;.;.;.;ATLA2_HUMAN	R	369;198;198;198;351;369;351;198	ENSP00000368237:P369R;ENSP00000385446:P198R;ENSP00000384062:P198R;ENSP00000446192:P198R;ENSP00000333393:P351R;ENSP00000415336:P369R;ENSP00000390743:P351R;ENSP00000438938:P198R	ENSP00000333393:P351R	P	-	2	0	ATL2	38380940	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.529000	0.98049	2.736000	0.93811	0.655000	0.94253	CCA		0.373	ATL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219886.2	NM_022374		C	38527436	G	C	38527436	3	2	681	1	0	0	0	0	1	0	0	0	1107	1348	47	4	773	4	ATL2	2	38527436	Missense_Mutation	SNP	G	TCGA-IA-A83S-01A-11D-A34Z-10	13992348	38527436	204671937	15	37536											
PLEKHH2	130271	hgsc.bcm.edu	37	2	43937155	43937155	+	Missense_Mutation	SNP	G	G	A			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr2:43937155G>A	ENST00000282406.4	+	12	2103	c.1993G>A	c.(1993-1995)Gaa>Aaa	p.E665K		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	665	Ser-rich.				negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)	p.E665K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGTGGCTTCTGAAAGTGATTA	0.458																																																1	Substitution - Missense(1)	lung(1)											177	170	172					2																	43937155		2203	4300	6503	SO:0001583	missense	130271			AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"Pleckstrin homology (PH) domain containing"	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.1993G>A	chr2.hg19:g.43937155G>A	ENSP00000282406:p.Glu665Lys		Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	hg19	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.194124	0.78902	.	.	ENSG00000152527	ENST00000282406	T	0.75589	-0.95	5.23	5.23	0.72850	.	0.346472	0.32533	N	0.005963	T	0.77644	0.4161	L	0.41492	1.28	0.58432	D	0.999996	P;P;D	0.55385	0.92;0.787;0.971	P;B;P	0.53401	0.694;0.254;0.725	T	0.80346	-0.1421	10	0.72032	D	0.01	-11.6976	18.7989	0.92008	0.0:0.0:1.0:0.0	.	665;102;665	Q8IVE3;Q8IVE3-2;Q8IVE3-3	PKHH2_HUMAN;.;.	K	665	ENSP00000282406:E665K	ENSP00000282406:E665K	E	+	1	0	PLEKHH2	43790659	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	9.355000	0.97087	2.423000	0.82170	0.563000	0.77884	GAA		0.458	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		A	43937155	G	A	43937155	3	1	681	1	0	0	0	0	1	0	0	0	12079	1291	45	2	2035	2	PLEKHH2	2	43937155	Missense_Mutation	SNP	G	TCGA-IA-A83S-01A-11D-A34Z-10	5409719	43937155	199262218	16	37537											
C2orf73	129852	hgsc.bcm.edu	37	2	54587567	54587567	+	Missense_Mutation	SNP	A	A	T			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr2:54587567A>T	ENST00000398634.2	+	5	774	c.732A>T	c.(730-732)agA>agT	p.R244S	C2orf73_ENST00000491538.1_Intron|C2orf73_ENST00000405749.1_Intron	NM_001100396.1	NP_001093866.1	Q8N5S3	CB073_HUMAN	chromosome 2 open reading frame 73	244										breast(2)	2						CAGACGTCAGACAGGCAGCCA	0.498																																																0													33	32	32					2																	54587567		1907	4131	6038	SO:0001583	missense	129852			BC031669, AK097617	CCDS46285.1	2p16.2	2008-07-07			ENSG00000177994	ENSG00000177994			26861	protein-coding gene	gene with protein product						14702039	Standard	NM_001100396		Approved	FLJ40298	uc002rxt.1	Q8N5S3	OTTHUMG00000151826	ENST00000398634.2:c.732A>T	chr2.hg19:g.54587567A>T	ENSP00000381631:p.Arg244Ser		A0AV79|A0AV81|Q8N7V4	Missense_Mutation	SNP	ENST00000398634.2	hg19	CCDS46285.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.756992	0.89843	.	.	ENSG00000177994	ENST00000398634;ENST00000447328	T;T	0.43688	0.94;0.94	5.22	-4.39	0.03611	.	0.275143	0.30989	N	0.008480	T	0.27559	0.0677	L	0.51422	1.61	0.09310	N	1	B;B	0.16396	0.017;0.017	B;B	0.14578	0.007;0.011	T	0.18085	-1.0348	9	.	.	.	-22.3764	7.55	0.27790	0.3399:0.4503:0.2098:0.0	.	186;244	B7ZM12;Q8N5S3	.;CB073_HUMAN	S	244;186	ENSP00000381631:R244S;ENSP00000389570:R186S	.	R	+	3	2	C2orf73	54441071	0.996000	0.38824	0.026000	0.17262	0.956000	0.61745	0.694000	0.25512	-0.510000	0.06523	0.455000	0.32223	AGA		0.498	C2orf73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324075.2	NM_001100396		T	54587567	A	T	54587567	3	4	681	1	0	0	0	0	1	0	0	0	2194	272	10	5	750	5	C2orf73	2	54587567	Missense_Mutation	SNP	A	TCGA-IA-A83S-01A-11D-A34Z-10	10650412	54587567	188611806	17	37538											
AFTPH	54812	hgsc.bcm.edu	37	2	64779245	64779245	+	Missense_Mutation	SNP	A	A	G			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr2:64779245A>G	ENST00000422803.1	+	2	951	c.637A>G	c.(637-639)Agc>Ggc	p.S213G	AFTPH_ENST00000409933.1_Missense_Mutation_p.S213G|AFTPH_ENST00000238855.7_Missense_Mutation_p.S213G|AFTPH_ENST00000238856.4_Missense_Mutation_p.S213G|AFTPH_ENST00000409183.1_5'Flank			Q6ULP2	AFTIN_HUMAN	aftiphilin	213					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						GAAGCCTCTTAGCACTCATAG	0.408																																																0													99	94	95					2																	64779245		2203	4300	6503	SO:0001583	missense	54812			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.637A>G	chr2.hg19:g.64779245A>G	ENSP00000397726:p.Ser213Gly		D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	Missense_Mutation	SNP	ENST00000422803.1	hg19		.	.	.	.	.	.	.	.	.	.	A	10.69	1.421187	0.25639	.	.	ENSG00000119844	ENST00000238856;ENST00000422803;ENST00000238855;ENST00000409933	T;T;T;T	0.25414	1.8;1.8;1.8;1.8	5.11	5.11	0.69529	.	0.449420	0.26166	N	0.025958	T	0.18882	0.0453	L	0.40543	1.245	0.28041	N	0.933768	B;B;B;B	0.33171	0.4;0.4;0.4;0.4	B;B;B;B	0.31101	0.124;0.124;0.124;0.124	T	0.11966	-1.0566	10	0.20519	T	0.43	-0.0973	10.0775	0.42368	0.9237:0.0:0.0763:0.0	.	213;213;213;213	Q6ULP2;Q6ULP2-2;Q6ULP2-5;Q6ULP2-4	AFTIN_HUMAN;.;.;.	G	213	ENSP00000238856:S213G;ENSP00000397726:S213G;ENSP00000238855:S213G;ENSP00000387071:S213G	ENSP00000238855:S213G	S	+	1	0	AFTPH	64632749	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.209000	0.32357	2.243000	0.73865	0.482000	0.46254	AGC		0.408	AFTPH-202	KNOWN	basic	protein_coding	protein_coding		NM_017657		G	64779245	A	G	64779245	3	3	681	1	0	0	0	0	1	0	0	0	364	420	15	3	639	3	AFTPH	2	64779245	Missense_Mutation	SNP	A	TCGA-IA-A83S-01A-11D-A34Z-10	10191678	64779245	178420128	18	37539											
SH2D6	284948	hgsc.bcm.edu	37	2	85662170	85662170	+	Missense_Mutation	SNP	A	A	C			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr2:85662170A>C	ENST00000340326.2	+	1	253	c.92A>C	c.(91-93)aAt>aCt	p.N31T	SH2D6_ENST00000389938.2_Intron|SH2D6_ENST00000481426.2_Intron|Y_RNA_ENST00000384478.1_RNA	NM_198482.1	NP_940884.1	Q7Z4S9	SH2D6_HUMAN	SH2 domain containing 6	31										central_nervous_system(1)|lung(2)	3						ccccaGCTCAATAATCTGCTT	0.637																																																0													12	13	13					2																	85662170		2197	4298	6495	SO:0001583	missense	284948			AF450483	CCDS1976.1	2p11.2	2013-02-14			ENSG00000152292	ENSG00000152292		"SH2 domain containing"	30439	protein-coding gene	gene with protein product						12477932	Standard	NM_198482		Approved	FLJ35993	uc002spq.3	Q7Z4S9	OTTHUMG00000130176	ENST00000340326.2:c.92A>C	chr2.hg19:g.85662170A>C	ENSP00000341867:p.Asn31Thr		A6ND14|Q6R306	Missense_Mutation	SNP	ENST00000340326.2	hg19	CCDS1976.1	.	.	.	.	.	.	.	.	.	.	A	2.895	-0.228883	0.06022	.	.	ENSG00000152292	ENST00000340326	T	0.76968	-1.06	3.25	-6.5	0.01884	.	66.330300	0.00166	N	0.000000	T	0.55097	0.1899	N	0.08118	0	0.09310	N	1	B	0.16396	0.017	B	0.10450	0.005	T	0.50224	-0.8853	10	0.20046	T	0.44	7.3091	7.7682	0.28993	0.2024:0.2909:0.5066:0.0	.	31	Q7Z4S9	SH2D6_HUMAN	T	31	ENSP00000341867:N31T	ENSP00000341867:N31T	N	+	2	0	SH2D6	85515681	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-1.051000	0.03507	-1.835000	0.01191	-0.475000	0.04921	AAT		0.637	SH2D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252493.2	NM_198482		C	85662170	A	C	85662170	3	2	681	1	0	0	0	0	1	0	0	0	14244	101	4	5	94	5	SH2D6	2	85662170	Missense_Mutation	SNP	A	TCGA-IA-A83S-01A-11D-A34Z-10	20882925	85662170	157537203	19	37540											
ANAPC1	64682	hgsc.bcm.edu	37	2	112638235	112638235	+	Silent	SNP	G	G	T			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr2:112638235G>T	ENST00000341068.3	-	2	940	c.168C>A	c.(166-168)ggC>ggA	p.G56G	ANAPC1_ENST00000489177.1_5'UTR	NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	56					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						ATCCCACCAAGCCAGCAGCAC	0.463																																																0													37	37	37					2																	112638235		2203	4300	6503	SO:0001819	synonymous_variant	64682			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.168C>A	chr2.hg19:g.112638235G>T			Q2M3H8|Q9BSE6|Q9H8D0	Silent	SNP	ENST00000341068.3	hg19	CCDS2093.1																																																																																				0.463	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662		T	112638235	G	T	112638235	2	4	681	1	0	0	0	0	0	0	0	1	598	958	34	4		4	ANAPC1	2	112638235	Silent	SNP	G	TCGA-IA-A83S-01A-11D-A34Z-10	26976065	112638235	130561138	20	37541											
LY75	4065	hgsc.bcm.edu	37	2	160746833	160746833	+	Silent	SNP	T	T	C			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr2:160746833T>C	ENST00000263636.4	-	4	720	c.693A>G	c.(691-693)caA>caG	p.Q231Q	LY75-CD302_ENST00000505052.1_Silent_p.Q231Q|LY75_ENST00000554112.1_Silent_p.Q231Q|LY75_ENST00000553424.1_Silent_p.Q231Q|LY75-CD302_ENST00000504764.1_Silent_p.Q231Q	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	231	C-type lectin 1. {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)		GAGTATTAAATTGGTAGCAAC	0.373																																																0													94	95	95					2																	160746833		2203	4300	6503	SO:0001819	synonymous_variant	4065			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.693A>G	chr2.hg19:g.160746833T>C			O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Silent	SNP	ENST00000263636.4	hg19	CCDS2211.1																																																																																				0.373	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1			C	160746833	T	C	160746833	2	2	681	1	0	0	0	0	0	0	0	1	9101	1490	52	3		3	LY75	2	160746833	Silent	SNP	T	TCGA-IA-A83S-01A-11D-A34Z-10	48108598	160746833	82452540	21	37542											
HOXD4	3233	hgsc.bcm.edu	37	2	177017568	177017568	+	Silent	SNP	A	A	T			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr2:177017568A>T	ENST00000306324.3	+	2	1078	c.666A>T	c.(664-666)tcA>tcT	p.S222S	MIR10B_ENST00000385011.1_RNA|HOXD3_ENST00000468418.3_5'UTR	NM_014621.2	NP_055436.2	P09016	HXD4_HUMAN	homeobox D4	222	Poly-Ser.				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)		AAGGCAGGTCATCGTCCTCAT	0.537																																																0													119	121	120					2																	177017568		2203	4300	6503	SO:0001819	synonymous_variant	3233				CCDS2269.1	2q31.1	2011-06-20	2005-12-22		ENSG00000170166	ENSG00000170166		"Homeoboxes / ANTP class : HOXL subclass"	5138	protein-coding gene	gene with protein product		142981	"homeo box D4"	HOX4B, HOX4		1973146, 1358459	Standard	NM_014621		Approved		uc002uks.3	P09016	OTTHUMG00000132515	ENST00000306324.3:c.666A>T	chr2.hg19:g.177017568A>T			B2R9R3|Q96AU0	Silent	SNP	ENST00000306324.3	hg19	CCDS2269.1																																																																																				0.537	HOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255697.2			T	177017568	A	T	177017568	2	4	681	1	0	0	0	0	0	0	0	1	7326	204	8	5		5	HOXD4	2	177017568	Silent	SNP	A	TCGA-IA-A83S-01A-11D-A34Z-10	16270735	177017568	66181805	22	37543											
PRKRA	8575	hgsc.bcm.edu	37	2	179300994	179300994	+	Missense_Mutation	SNP	G	G	A			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr2:179300994G>A	ENST00000325748.4	-	7	862	c.662C>T	c.(661-663)tCt>tTt	p.S221F	AC009948.5_ENST00000436616.2_RNA|AC009948.5_ENST00000453026.2_RNA|PRKRA_ENST00000438687.3_Missense_Mutation_p.S108F|AC009948.5_ENST00000454488.1_RNA|PRKRA_ENST00000432031.2_Missense_Mutation_p.S210F|PRKRA_ENST00000487082.1_Missense_Mutation_p.S196F	NM_003690.4	NP_003681.1	O75569	PRKRA_HUMAN	protein kinase, interferon-inducible double stranded RNA dependent activator	221	Sufficient for self-association and interaction with TARBP2.				cellular response to oxidative stress (GO:0034599)|gene expression (GO:0010467)|immune response (GO:0006955)|middle ear morphogenesis (GO:0042474)|negative regulation of cell proliferation (GO:0008285)|outer ear morphogenesis (GO:0042473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|production of siRNA involved in RNA interference (GO:0030422)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|skeletal system morphogenesis (GO:0048705)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	enzyme activator activity (GO:0008047)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)			TTCACCAGGAGAATTCCTCAA	0.388																																					Melanoma(200;68 3001 23825 48764)											0													154	173	167					2																	179300994		2203	4300	6503	SO:0001583	missense	8575			AF072860	CCDS2279.1, CCDS46460.1, CCDS46461.1	2q31.2	2009-08-25			ENSG00000180228	ENSG00000180228			9438	protein-coding gene	gene with protein product	"protein activator of the interferon-induced protein kinase"	603424				9687506, 10336432	Standard	NM_003690		Approved	PACT, RAX, HSD14, DYT16	uc002umf.3	O75569	OTTHUMG00000132576	ENST00000325748.4:c.662C>T	chr2.hg19:g.179300994G>A	ENSP00000318176:p.Ser221Phe		A8K3I6|Q53G24|Q6X7T5|Q8NDK4	Missense_Mutation	SNP	ENST00000325748.4	hg19	CCDS2279.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.432252	0.83776	.	.	ENSG00000180228	ENST00000325748;ENST00000438687;ENST00000487082;ENST00000432031	T;T;T;T	0.76186	-0.98;-0.99;-0.98;-1.0	5.92	5.92	0.95590	.	0.065506	0.64402	D	0.000008	D	0.85695	0.5756	M	0.73217	2.22	0.48762	D	0.999701	D;D	0.89917	1.0;0.999	D;D	0.76071	0.987;0.964	D	0.86199	0.1617	10	0.72032	D	0.01	.	17.2511	0.87042	0.0:0.0:1.0:0.0	.	221;210	O75569;O75569-2	PRKRA_HUMAN;.	F	221;108;196;210	ENSP00000318176:S221F;ENSP00000398980:S108F;ENSP00000430604:S196F;ENSP00000393883:S210F	ENSP00000318176:S221F	S	-	2	0	PRKRA	179009240	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.222000	0.72249	2.822000	0.97130	0.650000	0.86243	TCT		0.388	PRKRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255782.2	NM_003690		A	179300994	G	A	179300994	3	1	681	1	0	0	0	0	1	0	0	0	12529	942	33	2	287	2	PRKRA	2	179300994	Missense_Mutation	SNP	G	TCGA-IA-A83S-01A-11D-A34Z-10	2283426	179300994	63898379	23	37544											
TTN	7273	hgsc.bcm.edu	37	2	179455837	179455837	+	Missense_Mutation	SNP	T	T	C			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr2:179455837T>C	ENST00000591111.1	-	254	55916	c.55692A>G	c.(55690-55692)atA>atG	p.I18564M	TTN_ENST00000342992.6_Missense_Mutation_p.I17637M|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I11332M|TTN_ENST00000359218.5_Missense_Mutation_p.I11265M|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.I20205M|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I11140M|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18564	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)			CAATATAATTTATCACAGGGC	0.448																																																0													103	102	102					2																	179455837		1868	4097	5965	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.55692A>G	chr2.hg19:g.179455837T>C	ENSP00000465570:p.Ile18564Met		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	hg19		.	.	.	.	.	.	.	.	.	.	T	7.626	0.677919	0.14841	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	6.11	-1.34	0.09143	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.30135	0.0755	N	0.12746	0.255	0.28797	N	0.899017	B;B;B;B	0.25850	0.136;0.136;0.136;0.136	B;B;B;B	0.21151	0.033;0.033;0.033;0.033	T	0.27640	-1.0068	9	0.87932	D	0	.	7.5324	0.27691	0.1013:0.0615:0.5558:0.2813	.	11140;11265;11332;18564	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	M	17637;11140;11332;11265;11138	ENSP00000343764:I17637M;ENSP00000434586:I11140M;ENSP00000340554:I11332M;ENSP00000352154:I11265M	ENSP00000340554:I11332M	I	-	3	3	TTN	179164083	0.992000	0.36948	1.000000	0.80357	0.993000	0.82548	0.173000	0.16724	0.143000	0.18926	-0.331000	0.08364	ATA		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		C	179455837	T	C	179455837	3	2	681	1	0	0	0	0	1	0	0	0	16740	1744	61	3	47600	3	TTN	2	179455837	Missense_Mutation	SNP	T	TCGA-IA-A83S-01A-11D-A34Z-10	154843	179455837	63743536	24	37545											
DLEC1	9940	hgsc.bcm.edu	37	3	38101345	38101345	+	Splice_Site	SNP	T	T	A			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr3:38101345T>A	ENST00000308059.6	+	3	694		c.e3+2		DLEC1_ENST00000346219.3_Splice_Site|DLEC1_ENST00000452631.2_Splice_Site					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CACCTAAAGGTAATGCTTCTG	0.488																																																0													130	128	128					3																	38101345		1939	4141	6080	SO:0001630	splice_region_variant	9940			AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"cilia and flagella associated protein 81"	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.673+2T>A	chr3.hg19:g.38101345T>A				Splice_Site	SNP	ENST00000308059.6	hg19	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	T	16.28	3.077564	0.55753	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	.	.	.	4.99	4.99	0.66335	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.0009	0.47604	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	DLEC1	38076349	1.000000	0.71417	0.996000	0.52242	0.627000	0.37826	3.947000	0.56652	2.089000	0.63090	0.533000	0.62120	.		0.488	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337	Intron	A	38101345	T	A	38101345	5	1	681	1	0	0	0	0	0	0	1	0	4554	1652	57	5	685	5	DLEC1	3	38101345	Splice_Site	SNP	T	TCGA-IA-A83S-01A-11D-A34Z-10		38101345	159921085	25	37546											
FAM19A4	151647	hgsc.bcm.edu	37	3	68929968	68929968	+	Missense_Mutation	SNP	G	G	T			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr3:68929968G>T	ENST00000295569.7	-	3	535	c.43C>A	c.(43-45)Ctg>Atg	p.L15M	RNA5SP135_ENST00000517019.1_RNA	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	15						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)		CAGTGCGACAGCAACACTGAC	0.552																																																0													83	75	78					3																	68929968		2203	4300	6503	SO:0001583	missense	151647			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.43C>A	chr3.hg19:g.68929968G>T	ENSP00000295569:p.Leu15Met		A8MVT2	Missense_Mutation	SNP	ENST00000295569.7	hg19	CCDS2907.1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.652658	0.47362	.	.	ENSG00000163377	ENST00000295569;ENST00000495737	.	.	.	5.18	5.18	0.71444	.	0.492735	0.18075	N	0.152484	T	0.26666	0.0652	N	0.08118	0	0.28953	N	0.890319	P	0.36438	0.553	B	0.31751	0.135	T	0.18304	-1.0341	9	0.46703	T	0.11	-7.3645	18.7219	0.91698	0.0:0.0:1.0:0.0	.	15	Q96LR4	F19A4_HUMAN	M	15	.	ENSP00000295569:L15M	L	-	1	2	FAM19A4	69012658	1.000000	0.71417	0.691000	0.30163	0.990000	0.78478	4.329000	0.59260	2.414000	0.81942	0.591000	0.81541	CTG		0.552	FAM19A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352002.1	NM_182522		T	68929968	G	T	68929968	3	4	681	1	0	0	0	0	1	0	0	0	5536	962	34	4	395	4	FAM19A4	3	68929968	Missense_Mutation	SNP	G	TCGA-IA-A83S-01A-11D-A34Z-10	30828623	68929968	129092462	26	37547											
ABI3BP	25890	hgsc.bcm.edu	37	3	100470405	100470405	+	Missense_Mutation	SNP	T	T	C			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr3:100470405T>C	ENST00000284322.5	-	34	3212	c.3103A>G	c.(3103-3105)Atc>Gtc	p.I1035V	ABI3BP_ENST00000471714.1_Missense_Mutation_p.I1737V|ABI3BP_ENST00000383691.4_Missense_Mutation_p.I989V	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	1035					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						CCTTCTTTGATTGGTAACTGG	0.408																																																0													59	55	56					3																	100470405		1880	4109	5989	SO:0001583	missense	25890			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.3103A>G	chr3.hg19:g.100470405T>C	ENSP00000284322:p.Ile1035Val		B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	ENST00000284322.5	hg19	CCDS46880.1	.	.	.	.	.	.	.	.	.	.	T	13.50	2.255157	0.39896	.	.	ENSG00000154175	ENST00000471714;ENST00000284322;ENST00000383692;ENST00000429331;ENST00000383691	T;T;T	0.44482	0.92;0.92;0.92	5.92	4.74	0.60224	.	0.502303	0.22224	N	0.062901	T	0.16981	0.0408	N	0.02011	-0.69	0.20403	N	0.999902	B;B;B;B	0.22276	0.011;0.002;0.067;0.057	B;B;B;B	0.18263	0.021;0.007;0.018;0.003	T	0.13522	-1.0506	10	0.33940	T	0.23	-0.2949	8.009	0.30342	0.0:0.0748:0.1379:0.7872	.	989;1035;1737;744	B4DSV9;Q7Z7G0;D3YTG3;D3YTD6	.;TARSH_HUMAN;.;.	V	1737;1035;744;446;989	ENSP00000420524:I1737V;ENSP00000284322:I1035V;ENSP00000373189:I989V	ENSP00000284322:I1035V	I	-	1	0	ABI3BP	101953095	0.949000	0.32298	1.000000	0.80357	0.984000	0.73092	1.044000	0.30329	1.034000	0.39945	0.533000	0.62120	ATC		0.408	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1			C	100470405	T	C	100470405	3	2	681	1	0	0	0	0	1	0	0	0	91	1493	52	3	132	3	ABI3BP	3	100470405	Missense_Mutation	SNP	T	TCGA-IA-A83S-01A-11D-A34Z-10	31540437	100470405	97552025	27	37548											
TRPC1	7220	hgsc.bcm.edu	37	3	142443574	142443574	+	Splice_Site	SNP	G	G	A			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr3:142443574G>A	ENST00000476941.1	+	1	658		c.e1+1		TRPC1_ENST00000273482.6_Splice_Site	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1						axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						TGCGACAAGGGTGAGAGTTAG	0.572																																																0													137	118	124					3																	142443574		2203	4300	6503	SO:0001630	splice_region_variant	7220			X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"Voltage-gated ion channels / Transient receptor potential cation channels"	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.172+1G>A	chr3.hg19:g.142443574G>A			Q14CE4	Splice_Site	SNP	ENST00000476941.1	hg19	CCDS58856.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.178518	0.78564	.	.	ENSG00000144935	ENST00000476941;ENST00000273482	.	.	.	5.02	4.14	0.48551	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5725	0.61856	0.0:0.0:0.8446:0.1554	.	.	.	.	.	-1	.	.	.	+	.	.	TRPC1	143926264	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.209000	0.72171	1.231000	0.43661	0.650000	0.86243	.		0.572	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354520.1	NM_003304	Intron	A	142443574	G	A	142443574	5	1	681	1	0	0	0	0	0	0	1	0	16583	1275	44	2	175	2	TRPC1	3	142443574	Splice_Site	SNP	G	TCGA-IA-A83S-01A-11D-A34Z-10	41973169	142443574	55578856	28	37549											
ETV5	2119	hgsc.bcm.edu	37	3	185774898	185774898	+	Missense_Mutation	SNP	C	C	A			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr3:185774898C>A	ENST00000306376.5	-	11	1421	c.1175G>T	c.(1174-1176)cGa>cTa	p.R392L	ETV5_ENST00000537818.1_Missense_Mutation_p.R434L|ETV5_ENST00000434744.1_Missense_Mutation_p.R392L|ETV5_ENST00000480706.1_5'UTR	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	392					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)			CTCCATGCCTCGACCTGTCCA	0.517			T	"TMPRSS2, SCL45A3"	Prostate																																		Dom	yes		3	3q28	2119	ets variant gene 5		E	0													91	89	89					3																	185774898		2203	4300	6503	SO:0001583	missense	2119			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.1175G>T	chr3.hg19:g.185774898C>A	ENSP00000306894:p.Arg392Leu		A6NH46|B7Z7D7|Q6IBN5	Missense_Mutation	SNP	ENST00000306376.5	hg19	CCDS33906.1	.	.	.	.	.	.	.	.	.	.	C	33	5.288657	0.95517	.	.	ENSG00000244405	ENST00000306376;ENST00000434744;ENST00000537818	T;T;T	0.57107	0.42;0.42;0.42	5.69	5.69	0.88448	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.000000	0.85682	D	0.000000	T	0.78323	0.4265	M	0.89214	3.015	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.81996	-0.0676	10	0.87932	D	0	.	18.5905	0.91210	0.0:1.0:0.0:0.0	.	392;434	P41161;B7Z7D7	ETV5_HUMAN;.	L	392;392;434	ENSP00000306894:R392L;ENSP00000413755:R392L;ENSP00000441737:R434L	ENSP00000306894:R392L	R	-	2	0	ETV5	187257592	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.691000	0.91804	0.655000	0.94253	CGA		0.517	ETV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344947.1	NM_004454		A	185774898	C	A	185774898	3	1	681	1	0	0	0	0	1	0	0	0	5284	884	31	4	369	4	ETV5	3	185774898	Missense_Mutation	SNP	C	TCGA-IA-A83S-01A-11D-A34Z-10	43331324	185774898	12247532	29	37550											
CCDC50	152137	hgsc.bcm.edu	37	3	191092937	191092937	+	Intron	SNP	C	C	T			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr3:191092937C>T	ENST00000392455.3	+	6	1046				CCDC50_ENST00000392456.3_Missense_Mutation_p.H179Y	NM_174908.3	NP_777568.1	Q8IVM0	CCD50_HUMAN	coiled-coil domain containing 50							cytoplasm (GO:0005737)	ubiquitin protein ligase binding (GO:0031625)			endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		GACTGTGAAGCACAAGAAAGA	0.498																																																0													83	78	79					3																	191092937		2203	4300	6503	SO:0001627	intron_variant	152137			AJ416916	CCDS33912.1, CCDS33913.1	3q28	2010-12-24		2005-12-23	ENSG00000152492	ENSG00000152492			18111	protein-coding gene	gene with protein product		611051	"deafness, autosomal dominant 44"	C3orf6, DFNA44		16803894, 17503326	Standard	NM_178335		Approved	Ymer	uc003fsv.3	Q8IVM0	OTTHUMG00000156177	ENST00000392455.3:c.449-5011C>T	chr3.hg19:g.191092937C>T			Q86VH7	Missense_Mutation	SNP	ENST00000392455.3	hg19	CCDS33913.1	.	.	.	.	.	.	.	.	.	.	C	9.887	1.203179	0.22121	.	.	ENSG00000152492	ENST00000392456	T	0.32023	1.47	5.65	5.65	0.86999	.	0.753598	0.11889	N	0.519796	T	0.27559	0.0677	.	.	.	0.09310	N	0.999996	B	0.15930	0.015	B	0.19148	0.024	T	0.10636	-1.0621	9	0.40728	T	0.16	.	15.5749	0.76368	0.0:1.0:0.0:0.0	.	179	Q8IVM0-2	.	Y	179	ENSP00000376250:H179Y	ENSP00000376250:H179Y	H	+	1	0	CCDC50	192575631	0.294000	0.24380	0.102000	0.21198	0.129000	0.20672	1.489000	0.35562	2.821000	0.97095	0.650000	0.86243	CAC		0.498	CCDC50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343315.1	NM_174908		T	191092937	C	T	191092937	1	4	681	0	1	0	0	0	0	0	0	0	2822	710	25	2		2	CCDC50	3	191092937	Intron	SNP	C	TCGA-IA-A83S-01A-11D-A34Z-10	5318039	191092937	6929493	30	37551											
C4orf44	345222	hgsc.bcm.edu	37	4	3254938	3254938	+	Silent	SNP	T	T	C			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr4:3254938T>C	ENST00000438480.2	+	2	2072	c.325T>C	c.(325-327)Tta>Cta	p.L109L	MSANTD1_ENST00000510580.1_Silent_p.L109L|MSANTD1_ENST00000507492.1_Silent_p.L96L	NM_001042690.1	NP_001036155.1	Q6ZTZ1	MSD1_HUMAN	Myb/SANT-like DNA-binding domain containing 1	109	Myb-like.									endometrium(1)|lung(2)	3						TTTCAGGAAATTAAAATGCAT	0.597																																																0													67	84	78					4																	3254938		2203	4300	6503	SO:0001819	synonymous_variant	345222				CCDS47003.1	4p16.2	2012-03-02	2012-03-02	2012-03-02	ENSG00000188981	ENSG00000188981			33741	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 44"	C4orf44			Standard	NM_001042690		Approved	LOC345222	uc003ggs.3	Q6ZTZ1	OTTHUMG00000159977	ENST00000438480.2:c.325T>C	chr4.hg19:g.3254938T>C			C9J6V0	Silent	SNP	ENST00000438480.2	hg19	CCDS47003.1																																																																																				0.597	MSANTD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370924.1	NM_001012982		C	3254938	T	C	3254938	2	2	681	1	0	0	0	0	0	0	0	1	2274	1490	52	3		3	C4orf44	4	3254938	Silent	SNP	T	TCGA-IA-A83S-01A-11D-A34Z-10		3254938	187899338	31	37552											
KIAA0232	9778	hgsc.bcm.edu	37	4	6863999	6864000	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr4:6863999_6864000insA	ENST00000307659.5	+	7	2345_2346	c.1890_1891insA	c.(1891-1893)aatfs	p.N631fs	KIAA0232_ENST00000425103.1_Frame_Shift_Ins_p.N631fs	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	631							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						TGCTTGCTGGCAATCAAGAGCT	0.421																																																0																																										SO:0001589	frameshift_variant	9778			D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.1892dupA	chr4.hg19:g.6864001_6864001dupA	ENSP00000303928:p.Asn631fs		A7E2D2	Frame_Shift_Ins	INS	ENST00000307659.5	hg19	CCDS43209.1																																																																																				0.421	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359102.2	NM_014743		A	6864000	-	A	6863999	7	5	681	1	0	1	1	0	0	0	0	0	8165	697	25	0	1908	0	KIAA0232	4	6863999	Frame_Shift_Ins	INS	-	TCGA-IA-A83S-01A-11D-A34Z-10	3609061	6863999	184290277	32	37553											
CDH9	1007	hgsc.bcm.edu	37	5	26988254	26988254	+	Missense_Mutation	SNP	A	A	T	rs144749356		TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr5:26988254A>T	ENST00000231021.4	-	2	359	c.187T>A	c.(187-189)Ttg>Atg	p.L63M		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	63	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)|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						TACTCTTCCAATAAGAAGAAC	0.383																																					Melanoma(8;187 585 15745 40864 52829)											0													93	88	89					5																	26988254		2203	4300	6503	SO:0001583	missense	1007			AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"Cadherins / Major cadherins"	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.187T>A	chr5.hg19:g.26988254A>T	ENSP00000231021:p.Leu63Met		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	hg19	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	A	19.29	3.799156	0.70567	.	.	ENSG00000113100	ENST00000231021;ENST00000513289;ENST00000511822	T;T;T	0.00571	6.5;6.5;6.5	5.64	2.02	0.26589	Cadherin-like (1);	0.080037	0.50627	D	0.000105	T	0.01523	0.0049	M	0.74467	2.265	0.41359	D	0.987417	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.991	T	0.63359	-0.6655	9	.	.	.	.	6.2494	0.20837	0.4865:0.0:0.5135:0.0	.	63;63	E7EPN0;Q9ULB4	.;CADH9_HUMAN	M	63	ENSP00000231021:L63M;ENSP00000426239:L63M;ENSP00000422538:L63M	.	L	-	1	2	CDH9	27024011	0.988000	0.35896	1.000000	0.80357	0.993000	0.82548	0.656000	0.24948	0.435000	0.26365	0.482000	0.46254	TTG		0.383	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		T	26988254	A	T	26988254	3	4	681	1	0	0	0	0	1	0	0	0	3119	98	4	5	2226	5	CDH9	5	26988254	Missense_Mutation	SNP	A	TCGA-IA-A83S-01A-11D-A34Z-10		26988254	153927006	33	37554											
NIPBL	25836	hgsc.bcm.edu	37	5	36976168	36976169	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr5:36976168_36976169insA	ENST00000282516.8	+	9	1658_1659	c.1159_1160insA	c.(1159-1161)gaafs	p.E387fs	NIPBL_ENST00000448238.2_Frame_Shift_Ins_p.E387fs|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	387					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)			CAATGTTTCAGAAAATGATATT	0.391																																																0																																										SO:0001589	frameshift_variant	25836			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"sister chromatid cohesion 2 homolog (yeast)"	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.1163dupA	chr5.hg19:g.36976172_36976172dupA	ENSP00000282516:p.Glu387fs		Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Frame_Shift_Ins	INS	ENST00000282516.8	hg19	CCDS3920.1																																																																																				0.391	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		A	36976169	-	A	36976168	7	5	681	1	0	1	1	0	0	0	0	0	10430	943	33	0	1189	0	NIPBL	5	36976168	Frame_Shift_Ins	INS	-	TCGA-IA-A83S-01A-11D-A34Z-10	9987914	36976168	143939092	34	37555											
GABRG2	2566	hgsc.bcm.edu	37	5	161524860	161524860	+	Missense_Mutation	SNP	C	C	G			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr5:161524860C>G	ENST00000361925.4	+	4	764	c.544C>G	c.(544-546)Cta>Gta	p.L182V	GABRG2_ENST00000414552.2_Missense_Mutation_p.L182V|GABRG2_ENST00000393933.4_Missense_Mutation_p.L87V|GABRG2_ENST00000356592.3_Missense_Mutation_p.L182V			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	182					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|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(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	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;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	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)|Ginkgo biloba(DB01381)|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)	GCTCTACACCCTAAGGTATTC	0.368																																																0													70	71	71					5																	161524860		2203	4300	6503	SO:0001583	missense	2566				CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4087	protein-coding gene	gene with protein product	"GABA(A) receptor, gamma 2"	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.544C>G	chr5.hg19:g.161524860C>G	ENSP00000354651:p.Leu182Val		F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Missense_Mutation	SNP	ENST00000361925.4	hg19	CCDS4358.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.850018	0.51270	.	.	ENSG00000113327	ENST00000356592;ENST00000414552;ENST00000361925;ENST00000393933;ENST00000522053	T;T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22;-1.22	5.82	0.467	0.16721	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	T	0.79828	0.4513	L	0.52206	1.635	0.58432	D	0.999999	D;P;P	0.56035	0.974;0.629;0.939	P;P;P	0.58660	0.843;0.531;0.615	T	0.77691	-0.2493	10	0.87932	D	0	.	10.5972	0.45345	0.0:0.4263:0.0:0.5737	.	182;182;182	F5HB82;P18507;P18507-2	.;GBRG2_HUMAN;.	V	182;182;182;87;87	ENSP00000349000:L182V;ENSP00000410732:L182V;ENSP00000354651:L182V;ENSP00000377510:L87V;ENSP00000430182:L87V	ENSP00000349000:L182V	L	+	1	2	GABRG2	161457438	0.005000	0.15991	0.636000	0.29352	0.990000	0.78478	0.140000	0.16056	-0.234000	0.09782	0.563000	0.77884	CTA		0.368	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1			G	161524860	C	G	161524860	3	3	681	1	0	0	0	0	1	0	0	0	6174	680	24	4	558	4	GABRG2	5	161524860	Missense_Mutation	SNP	C	TCGA-IA-A83S-01A-11D-A34Z-10	124548692	161524860	19390400	35	37556											
TNXB	7148	hgsc.bcm.edu	37	6	32014119	32014119	+	Missense_Mutation	SNP	A	A	G			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr6:32014119A>G	ENST00000375244.3	-	31	10640	c.10439T>C	c.(10438-10440)gTg>gCg	p.V3480A	TNXB_ENST00000451343.1_5'Flank|TNXB_ENST00000375247.2_Missense_Mutation_p.V3478A			P22105	TENX_HUMAN	tenascin XB	3525	Fibronectin type-III 26. {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						GTACTGGACCACGAAGGAGTC	0.652																																																0													37	44	41					6																	32014119		1427	2654	4081	SO:0001583	missense	7148			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.10439T>C	chr6.hg19:g.32014119A>G	ENSP00000364393:p.Val3480Ala		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	hg19		.	.	.	.	.	.	.	.	.	.	A	14.77	2.634222	0.47049	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.56611	0.45;0.45	4.25	3.04	0.35103	.	0.175077	0.27270	N	0.020129	T	0.33990	0.0882	M	0.87328	2.875	0.23113	N	0.998276	B	0.24823	0.112	B	0.31337	0.128	T	0.45527	-0.9255	10	0.07990	T	0.79	.	9.1299	0.36839	0.9067:0.0:0.0933:0.0	.	3478	P22105-3	.	A	3480;3478	ENSP00000364393:V3480A;ENSP00000364396:V3478A	ENSP00000364393:V3480A	V	-	2	0	TNXB	32122097	0.376000	0.25098	0.997000	0.53966	0.484000	0.33280	2.793000	0.47845	1.772000	0.52199	0.260000	0.18958	GTG		0.652	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		G	32014119	A	G	32014119	3	3	681	1	0	0	0	0	1	0	0	0	16351	159	6	3	4336	3	TNXB	6	32014119	Missense_Mutation	SNP	A	TCGA-IA-A83S-01A-11D-A34Z-10		32014119	139100948	36	37557											
DNAH8	1769	hgsc.bcm.edu	37	6	38976613	38976613	+	Missense_Mutation	SNP	C	C	A			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr6:38976613C>A	ENST00000359357.3	+	87	12841	c.12587C>A	c.(12586-12588)gCt>gAt	p.A4196D	DNAH8_ENST00000441566.1_Missense_Mutation_p.A4160D			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	4196					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						ACTGCTTCTGCTGTTCTTGAA	0.403																																																0													139	141	140					6																	38976613		2203	4300	6503	SO:0001583	missense	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.12587C>A	chr6.hg19:g.38976613C>A	ENSP00000352312:p.Ala4196Asp		O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	hg19		.	.	.	.	.	.	.	.	.	.	C	9.309	1.055145	0.19907	.	.	ENSG00000124721	ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.08458	3.09;3.09;3.09	5.68	0.0947	0.14482	Dynein heavy chain (1);	0.691017	0.13632	N	0.373632	T	0.00815	0.0027	N	0.02420	-0.555	0.32197	N	0.578309	B	0.02656	0.0	B	0.04013	0.001	T	0.47861	-0.9084	10	0.09843	T	0.71	.	9.2075	0.37298	0.6484:0.1727:0.1789:0.0	.	4196	Q96JB1	DYH8_HUMAN	D	4401;4196;4160	ENSP00000333363:A4401D;ENSP00000352312:A4196D;ENSP00000402294:A4160D	ENSP00000333363:A4401D	A	+	2	0	DNAH8	39084591	0.890000	0.30428	0.949000	0.38748	0.993000	0.82548	1.792000	0.38754	0.235000	0.21160	0.650000	0.86243	GCT		0.403	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		A	38976613	C	A	38976613	3	1	681	1	0	0	0	0	1	0	0	0	4609	797	28	4	12925	4	DNAH8	6	38976613	Missense_Mutation	SNP	C	TCGA-IA-A83S-01A-11D-A34Z-10	6962494	38976613	132138454	37	37558											
TTBK1	84630	hgsc.bcm.edu	37	6	43250879	43250879	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr6:43250879C>T	ENST00000259750.4	+	14	2484	c.2401C>T	c.(2401-2403)Cag>Tag	p.Q801*		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	801					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)			TGACCGGAGCCAGGAGGGTGC	0.682																																																0													9	9	9					6																	43250879		2191	4284	6475	SO:0001587	stop_gained	84630			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.2401C>T	chr6.hg19:g.43250879C>T	ENSP00000259750:p.Gln801*		A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Nonsense_Mutation	SNP	ENST00000259750.4	hg19	CCDS34455.1	.	.	.	.	.	.	.	.	.	.	C	37	6.087026	0.97271	.	.	ENSG00000146216	ENST00000259750	.	.	.	4.62	4.62	0.57501	.	0.184674	0.35179	N	0.003390	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	16.2343	0.82363	0.0:1.0:0.0:0.0	.	.	.	.	X	801	.	ENSP00000259750:Q801X	Q	+	1	0	TTBK1	43358857	1.000000	0.71417	1.000000	0.80357	0.528000	0.34623	5.728000	0.68531	2.099000	0.63709	0.561000	0.74099	CAG		0.682	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3			T	43250879	C	T	43250879	4	4	681	1	0	0	0	0	0	1	0	0	16681	595	21	2	2451	2	TTBK1	6	43250879	Nonsense_Mutation	SNP	C	TCGA-IA-A83S-01A-11D-A34Z-10	4274266	43250879	127864188	38	37559											
SCML4	256380	hgsc.bcm.edu	37	6	108093476	108093476	+	Missense_Mutation	SNP	G	G	A			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr6:108093476G>A	ENST00000369020.3	-	2	301	c.56C>T	c.(55-57)aCg>aTg	p.T19M	SCML4_ENST00000369022.2_Intron	NM_198081.3	NP_932347.2	Q8N228	SCML4_HUMAN	sex comb on midleg-like 4 (Drosophila)	19					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		CTTCATAGGCGTGGAGTGAAG	0.512																																																0													136	130	132					6																	108093476		692	1591	2283	SO:0001583	missense	256380				CCDS5060.2, CCDS69163.1, CCDS75500.1	6q21	2013-01-10			ENSG00000146285	ENSG00000146285		"Sterile alpha motif (SAM) domain containing"	21397	protein-coding gene	gene with protein product							Standard	NM_001286409		Approved	dJ47M23.1	uc010kdf.3	Q8N228	OTTHUMG00000015313	ENST00000369020.3:c.56C>T	chr6.hg19:g.108093476G>A	ENSP00000358016:p.Thr19Met		B0QZ10|B0QZ11|B7ZBX3|Q5JXD0|Q5T0T6|Q8IYY6	Missense_Mutation	SNP	ENST00000369020.3	hg19	CCDS5060.2	.	.	.	.	.	.	.	.	.	.	G	15.77	2.930166	0.52759	.	.	ENSG00000146285	ENST00000369020	T	0.47528	0.84	5.35	5.35	0.76521	AT hook, DNA-binding motif (1);	.	.	.	.	T	0.25865	0.0630	N	0.22421	0.69	0.42132	D	0.991477	D;P	0.67145	0.996;0.834	B;B	0.43809	0.432;0.34	T	0.08554	-1.0716	9	0.56958	D	0.05	.	13.7945	0.63162	0.0:0.0:0.8467:0.1533	.	19;19	B4E0X3;Q8N228	.;SCML4_HUMAN	M	19	ENSP00000358016:T19M	ENSP00000358016:T19M	T	-	2	0	SCML4	108200169	0.537000	0.26386	0.010000	0.14722	0.973000	0.67179	4.366000	0.59492	2.789000	0.95967	0.655000	0.94253	ACG		0.512	SCML4-005	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000041700.3	XM_171128		A	108093476	G	A	108093476	3	1	681	1	0	0	0	0	1	0	0	0	13917	1145	40	1	1216	1	SCML4	6	108093476	Missense_Mutation	SNP	G	TCGA-IA-A83S-01A-11D-A34Z-10	64842597	108093476	63021591	39	37560											
BCLAF1	9774	hgsc.bcm.edu	37	6	136599311	136599311	+	Silent	SNP	A	A	G			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr6:136599311A>G	ENST00000531224.1	-	4	960	c.708T>C	c.(706-708)ccT>ccC	p.P236P	BCLAF1_ENST00000392348.2_Silent_p.P234P|BCLAF1_ENST00000353331.4_Silent_p.P234P|BCLAF1_ENST00000527536.1_Silent_p.P236P|BCLAF1_ENST00000530767.1_Silent_p.P236P|BCLAF1_ENST00000527759.1_Silent_p.P234P	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	236					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)		AACTCTGACTAGGTGGTGTAG	0.448																																					Colon(142;1534 1789 5427 7063 28491)											0													194	183	186					6																	136599311		2203	4300	6503	SO:0001819	synonymous_variant	9774			AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.708T>C	chr6.hg19:g.136599311A>G			A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Silent	SNP	ENST00000531224.1	hg19	CCDS5177.1																																																																																				0.448	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		G	136599311	A	G	136599311	2	3	681	1	0	0	0	0	0	0	0	1	1383	407	15	3		3	BCLAF1	6	136599311	Silent	SNP	A	TCGA-IA-A83S-01A-11D-A34Z-10	28505835	136599311	34515756	40	37561											
CNKSR3	154043	hgsc.bcm.edu	37	6	154771340	154771340	+	Silent	SNP	G	G	A			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr6:154771340G>A	ENST00000607772.1	-	2	649	c.105C>T	c.(103-105)atC>atT	p.I35I	CNKSR3_ENST00000479339.1_5'UTR	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	35	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				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)		GCTCGCCGTTGATCTTCTCTC	0.507																																																0													120	114	116					6																	154771340		2203	4300	6503	SO:0001819	synonymous_variant	154043			AK055911	CCDS5246.1	6q25.2	2013-01-10	2005-04-11	2005-04-11	ENSG00000153721	ENSG00000153721		"Sterile alpha motif (SAM) domain containing"	23034	protein-coding gene	gene with protein product			"membrane associated guanylate kinase interacting protein-like 1"	MAGI1			Standard	NM_173515		Approved	FLJ31349		Q6P9H4	OTTHUMG00000015873	ENST00000607772.1:c.105C>T	chr6.hg19:g.154771340G>A			Q5SGD5|Q96N65	Silent	SNP	ENST00000607772.1	hg19	CCDS5246.1																																																																																				0.507	CNKSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042792.2	NM_173515		A	154771340	G	A	154771340	2	1	681	1	0	0	0	0	0	0	0	1	3610	1280	45	2		2	CNKSR3	6	154771340	Silent	SNP	G	TCGA-IA-A83S-01A-11D-A34Z-10	18172029	154771340	16343727	41	37562											
EIF3B	8662	hgsc.bcm.edu	37	7	2409282	2409282	+	Missense_Mutation	SNP	T	T	A			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr7:2409282T>A	ENST00000360876.4	+	10	1635	c.1579T>A	c.(1579-1581)Tgt>Agt	p.C527S	EIF3B_ENST00000397011.2_Missense_Mutation_p.C527S	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)		AGACTACTTGTGTGTGAAAGT	0.507																																																0													111	101	104					7																	2409282		2203	4300	6503	SO:0001583	missense	8662			U62583	CCDS5332.1	7p22	2013-02-12	2007-07-27	2007-07-27	ENSG00000106263	ENSG00000106263		"RNA binding motif (RRM) containing"	3280	protein-coding gene	gene with protein product		603917	"eukaryotic translation initiation factor 3, subunit 9 eta, 116kDa"	EIF3S9		8995410	Standard	NM_001037283		Approved	PRT1, eIF3b	uc003sly.3	P55884	OTTHUMG00000022839	ENST00000360876.4:c.1579T>A	chr7.hg19:g.2409282T>A	ENSP00000354125:p.Cys527Ser			Missense_Mutation	SNP	ENST00000360876.4	hg19	CCDS5332.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.099575	0.76983	.	.	ENSG00000106263	ENST00000314800;ENST00000360876;ENST00000397011;ENST00000489558	T;T	0.05382	3.45;3.45	5.77	5.77	0.91146	Translation initiation factor 2A, beta propellor-like domain (1);Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.33614	0.0869	M	0.92923	3.36	0.80722	D	1	D	0.56287	0.975	D	0.65773	0.938	T	0.38520	-0.9657	10	0.87932	D	0	-25.5088	16.383	0.83481	0.0:0.0:0.0:1.0	.	527	P55884	EIF3B_HUMAN	S	527;527;527;451	ENSP00000354125:C527S;ENSP00000380206:C527S	ENSP00000316638:C527S	C	+	1	0	EIF3B	2375808	1.000000	0.71417	0.926000	0.36857	0.559000	0.35586	7.796000	0.85898	2.326000	0.78906	0.533000	0.62120	TGT		0.507	EIF3B-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207006.1			A	2409282	T	A	2409282	3	1	681	1	0	0	0	0	1	0	0	0	5015	1696	59	5	1617	5	EIF3B	7	2409282	Missense_Mutation	SNP	T	TCGA-IA-A83S-01A-11D-A34Z-10		2409282	156729381	42	37563											
CDK14	5218	hgsc.bcm.edu	37	7	90547017	90547017	+	Silent	SNP	G	G	T			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr7:90547017G>T	ENST00000380050.3	+	8	935	c.804G>T	c.(802-804)ggG>ggT	p.G268G	CDK14_ENST00000436577.2_Silent_p.G139G|CDK14_ENST00000406263.1_Silent_p.G222G|CDK14_ENST00000265741.3_Silent_p.G250G			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	268	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						GTGACACGGGGGAGTTAAAGC	0.438																																					GBM(83;1228 1256 8311 16577 31299)											0													118	116	117					7																	90547017		2203	4300	6503	SO:0001819	synonymous_variant	5218				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.804G>T	chr7.hg19:g.90547017G>T			A4D1E6|A6NK51|A8WFP6|B4DHG5|B4DNM2|Q75N06|Q75N22|Q8N764|Q9H3D7|Q9UDR0	Silent	SNP	ENST00000380050.3	hg19																																																																																					0.438	CDK14-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000059970.5	NM_012395		T	90547017	G	T	90547017	2	4	681	1	0	0	0	0	0	0	0	1	3132	1219	43	4		4	CDK14	7	90547017	Silent	SNP	G	TCGA-IA-A83S-01A-11D-A34Z-10	88137735	90547017	68591646	43	37564											
C8orf41	80185	hgsc.bcm.edu	37	8	33364813	33364813	+	Silent	SNP	G	G	A			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr8:33364813G>A	ENST00000431156.2	-	4	1479	c.861C>T	c.(859-861)aaC>aaT	p.N287N	TTI2_ENST00000519356.1_5'UTR|TTI2_ENST00000360742.5_Silent_p.N287N|TTI2_ENST00000520636.1_Intron	NM_001102401.2	NP_001095871.1	Q6NXR4	TTI2_HUMAN	TELO2 interacting protein 2	287																	CCTGGGCTCTGTTATACTGGA	0.428																																																0													142	117	125					8																	33364813		2203	4300	6503	SO:0001819	synonymous_variant	80185			AK026916	CCDS6090.1	8p12	2011-11-10	2011-11-10	2011-09-22		ENSG00000129696			26262	protein-coding gene	gene with protein product		614426	"chromosome 8 open reading frame 41", "Tel2 interacting protein 2 homolog (S. pombe)"	C8orf41		20801936, 20810650	Standard	NM_025115		Approved	FLJ23263	uc003xjm.5	Q6NXR4		ENST00000431156.2:c.861C>T	chr8.hg19:g.33364813G>A			D3DSV7|Q96IM2|Q9H5N4	Silent	SNP	ENST00000431156.2	hg19	CCDS6090.1																																																																																				0.428	TTI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376555.1	NM_025115		A	33364813	G	A	33364813	2	1	681	1	0	0	0	0	0	0	0	1	2429	1368	48	2		2	C8orf41	8	33364813	Silent	SNP	G	TCGA-IA-A83S-01A-11D-A34Z-10		33364813	112999209	44	37565											
SOX17	64321	hgsc.bcm.edu	37	8	55370847	55370847	+	Missense_Mutation	SNP	C	C	G			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr8:55370847C>G	ENST00000297316.4	+	1	353	c.149C>G	c.(148-150)gCg>gGg	p.A50G		NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	SRY (sex determining region Y)-box 17	50					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)			GAGGCGCCGGCGAACAGCGGA	0.736																																																0													8	11	10					8																	55370847		2132	4192	6324	SO:0001583	missense	64321			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.149C>G	chr8.hg19:g.55370847C>G	ENSP00000297316:p.Ala50Gly			Missense_Mutation	SNP	ENST00000297316.4	hg19	CCDS6159.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.275942	0.59649	.	.	ENSG00000164736	ENST00000297316	D	0.97256	-4.31	4.45	2.5	0.30297	High mobility group, superfamily (1);	0.135798	0.49305	D	0.000146	D	0.93200	0.7834	L	0.53249	1.67	0.28938	N	0.891172	B	0.12630	0.006	B	0.10450	0.005	D	0.84162	0.0429	10	0.22109	T	0.4	.	4.3996	0.11379	0.1554:0.601:0.1519:0.0917	.	50	Q9H6I2	SOX17_HUMAN	G	50	ENSP00000297316:A50G	ENSP00000297316:A50G	A	+	2	0	SOX17	55533400	0.266000	0.24112	0.987000	0.45799	0.817000	0.46193	2.262000	0.43285	1.225000	0.43566	0.561000	0.74099	GCG		0.736	SOX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378526.2			G	55370847	C	G	55370847	3	3	681	1	0	0	0	0	1	0	0	0	14953	768	27	4	151	4	SOX17	8	55370847	Missense_Mutation	SNP	C	TCGA-IA-A83S-01A-11D-A34Z-10	22006034	55370847	90993175	45	37566											
RPS20	6224	hgsc.bcm.edu	37	8	56986652	56986652	+	Missense_Mutation	SNP	G	G	T			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr8:56986652G>T	ENST00000521262.1	-	2	323	c.70C>A	c.(70-72)Cta>Ata	p.L24I	RPS20_ENST00000519606.1_Missense_Mutation_p.L24I|RPS20_ENST00000519807.1_Missense_Mutation_p.L24I|SNORD54_ENST00000459159.1_RNA|RPS20_ENST00000520490.1_5'UTR|RPS20_ENST00000523936.1_Missense_Mutation_p.L24I|RPS20_ENST00000524349.1_5'UTR|RPS20_ENST00000520627.1_Intron|RPS20_ENST00000518875.1_Missense_Mutation_p.L24I|RPS20_ENST00000009589.3_Missense_Mutation_p.L24I|CTA-397H3.3_ENST00000521403.1_RNA			P60866	RS20_HUMAN	ribosomal protein S20	24					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 small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)						all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.155)	Epithelial(17;0.00117)|all cancers(17;0.00879)			CGGCTTGTTAGGGTGATTCGA	0.468																																																0													72	77	75					8																	56986652		2203	4300	6503	SO:0001583	missense	6224			L06498	CCDS6163.1, CCDS55231.1	8q12.1	2011-04-05				ENSG00000008988		"S ribosomal proteins"	10405	protein-coding gene	gene with protein product		603682				9582194, 8479924	Standard	NM_001023		Approved	S20	uc003xsm.2	P60866		ENST00000521262.1:c.70C>A	chr8.hg19:g.56986652G>T	ENSP00000427788:p.Leu24Ile		B2R4F4|B4DW28|P17075|Q5M8S9	Missense_Mutation	SNP	ENST00000521262.1	hg19		.	.	.	.	.	.	.	.	.	.	G	15.59	2.877815	0.51801	.	.	ENSG00000008988	ENST00000519807;ENST00000009589;ENST00000521262;ENST00000523936;ENST00000519606;ENST00000518875	.	.	.	5.17	3.38	0.38709	.	0.000000	0.64402	D	0.000001	T	0.80292	0.4596	M	0.92077	3.27	0.80722	D	1	P;D	0.54772	0.824;0.968	D;P	0.72338	0.977;0.785	T	0.79288	-0.1865	9	0.72032	D	0.01	-24.3785	6.6251	0.22824	0.4059:0.0:0.5941:0.0	.	24;24	P60866;B4DW28	RS20_HUMAN;.	I	24	.	ENSP00000009589:L24I	L	-	1	2	RPS20	57149206	1.000000	0.71417	0.010000	0.14722	0.016000	0.09150	3.119000	0.50422	0.588000	0.29660	0.655000	0.94253	CTA		0.468	RPS20-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000378166.1	NM_001023		T	56986652	G	T	56986652	3	4	681	1	0	0	0	0	1	0	0	0	13638	991	35	4	401	4	RPS20	8	56986652	Missense_Mutation	SNP	G	TCGA-IA-A83S-01A-11D-A34Z-10	1615805	56986652	89377370	46	37567											
CRISPLD1	83690	hgsc.bcm.edu	37	8	75925137	75925137	+	Silent	SNP	G	G	A	rs369100451		TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr8:75925137G>A	ENST00000262207.4	+	4	858	c.390G>A	c.(388-390)ccG>ccA	p.P130P	CRISPLD1_ENST00000517786.1_5'UTR|CRISPLD1_ENST00000523524.1_5'UTR	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	130	SCP.				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)			ATAGGCCCCCGACGTTTCATG	0.378																																																0								G		0,4406		0,0,2203	102	96	98		390	0.2	1	8		98	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CRISPLD1	NM_031461.5		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		130/501	75925137	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	83690			AL834301	CCDS6219.1, CCDS69497.1, CCDS75754.1	8q21.13	2005-09-23	2005-02-16	2005-02-16	ENSG00000121005	ENSG00000121005			18206	protein-coding gene	gene with protein product			"LCCL domain containing cysteine-rich secretory protein 1"	LCRISP1			Standard	NM_031461		Approved	Cocoacrisp, DKFZp762F133	uc003yan.3	Q9H336	OTTHUMG00000164529	ENST00000262207.4:c.390G>A	chr8.hg19:g.75925137G>A			B2RA60|B7Z929	Silent	SNP	ENST00000262207.4	hg19	CCDS6219.1																																																																																				0.378	CRISPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379117.1	NM_031461		A	75925137	G	A	75925137	2	1	681	1	0	0	0	0	0	0	0	1	3884	1045	37	1		1	CRISPLD1	8	75925137	Silent	SNP	G	TCGA-IA-A83S-01A-11D-A34Z-10	18938485	75925137	70438885	47	37568											
PYCRL	65263	hgsc.bcm.edu	37	8	144687925	144687956	+	Frame_Shift_Del	DEL	GTGGCTGCTCGCAGCCCGCCCTGCTCCAGGGC	GTGGCTGCTCGCAGCCCGCCCTGCTCCAGGGC	-	rs138226068|rs575409447|rs199825286|rs375748238		TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	GTGGCTGCTCGCAGCCCGCCCTGCTCCAGGGC	GTGGCTGCTCGCAGCCCGCCCTGCTCCAGGGC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr8:144687925_144687956delGTGGCTGCTCGCAGCCCGCCCTGCTCCAGGGC	ENST00000220966.6	-	6	804_835	c.775_806delGCCCTGGAGCAGGGCGGGCTGCGAGCAGCCAC	c.(775-807)gccctggagcagggcgggctgcgagcagccaccfs	p.ALEQGGLRAAT259fs	RP11-661A12.14_ENST00000606452.1_lincRNA|PYCRL_ENST00000495276.1_5'UTR|PYCRL_ENST00000377579.3_Frame_Shift_Del_p.ALEQGGLRAAT110fs	NM_023078.3	NP_075566.2	Q53H96	P5CR3_HUMAN	pyrroline-5-carboxylate reductase-like	247					L-proline biosynthetic process (GO:0055129)		pyrroline-5-carboxylate reductase activity (GO:0004735)	p.A255V(1)|p.L248_A256delLEQGGLRAA(1)		central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	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)		L-Proline(DB00172)	GGCGCTCATGGTGGCTGCTCGCAGCCCGCCCTGCTCCAGGGCGTGGAGTCCA	0.677																																																2	Substitution - Missense(1)|Deletion - In frame(1)	ovary(1)|endometrium(1)																																								SO:0001589	frameshift_variant	65263			AF086378	CCDS6407.2	8q24.3	2011-09-30	2011-09-30	2011-09-30	ENSG00000104524	ENSG00000104524			25846	protein-coding gene	gene with protein product							Standard	NM_023078		Approved	FLJ13852	uc003yyy.3	Q53H96	OTTHUMG00000157010	ENST00000220966.6:c.775_806delGCCCTGGAGCAGGGCGGGCTGCGAGCAGCCAC	chr8.hg19:g.144687925_144687956delGTGGCTGCTCGCAGCCCGCCCTGCTCCAGGGC	ENSP00000220966:p.Ala259fs		B3KMB5|B4DVT6|H0Y6C3|Q8N3N9|Q96HX4|Q9H896	Frame_Shift_Del	DEL	ENST00000220966.6	hg19	CCDS6407.2																																																																																				0.677	PYCRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347081.2	NM_023078		-	144687956	GTGGCTGCTCGCAGCCCGCCCTGCTCCAGGGC	-	144687925	7	5	681	1	0	1	0	1	0	0	0	0	12863	1261	44	0	58	0	PYCRL	8	144687925	Frame_Shift_Del	DEL	GTGGCTGCTCGCAGCCCGCCCTGCTCCAGGGC	TCGA-IA-A83S-01A-11D-A34Z-10	68762788	144687925	1676097	48	37569											
JAK2	3717	hgsc.bcm.edu	37	9	5081774	5081774	+	Silent	SNP	T	T	A			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr9:5081774T>A	ENST00000381652.3	+	19	2978	c.2484T>A	c.(2482-2484)ggT>ggA	p.G828G	JAK2_ENST00000539801.1_Silent_p.G828G|AL161450.1_ENST00000601793.1_Intron|JAK2_ENST00000544510.1_Silent_p.G679G	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	828					actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|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 activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	TGAGGATAGGTGCCCTGGGGT	0.363		1	"T, Mis, O"	"ETV6, PCM1, BCR"	"ALL, AML, MPD,  CML"				Polycythemia Vera, Familial																														Dom	yes		9	9p24	3717	Janus kinase 2		L	0													110	111	111					9																	5081774		2203	4300	6503	SO:0001819	synonymous_variant	3717	Familial Cancer Database			CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"SH2 domain containing"	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.2484T>A	chr9.hg19:g.5081774T>A			O14636|O75297	Silent	SNP	ENST00000381652.3	hg19	CCDS6457.1																																																																																				0.363	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1			A	5081774	T	A	5081774	2	1	681	1	0	0	0	0	0	0	0	1	7940	1683	59	5		5	JAK2	9	5081774	Silent	SNP	T	TCGA-IA-A83S-01A-11D-A34Z-10		5081774	136131657	49	37570											
NTRK2	4915	hgsc.bcm.edu	37	9	87359981	87359981	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr9:87359981delA	ENST00000323115.4	+	10	1642	c.1289delA	c.(1288-1290)catfs	p.H430fs	NTRK2_ENST00000376208.1_Frame_Shift_Del_p.H430fs|NTRK2_ENST00000304053.6_Frame_Shift_Del_p.H430fs|NTRK2_ENST00000359847.3_Frame_Shift_Del_p.H430fs|NTRK2_ENST00000277120.3_Frame_Shift_Del_p.H430fs|NTRK2_ENST00000376213.1_Frame_Shift_Del_p.H430fs|NTRK2_ENST00000395866.2_Frame_Shift_Del_p.H274fs|NTRK2_ENST00000376214.1_Frame_Shift_Del_p.H430fs|NTRK2_ENST00000395882.1_Frame_Shift_Del_p.H430fs			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	430					activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46					Amitriptyline(DB00321)	GGTCGGGAACATCTCTCGGTG	0.433										TSP Lung(25;0.17)																																						0													125	116	119					9																	87359981		2203	4300	6503	SO:0001589	frameshift_variant	4915			AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing"	8032	protein-coding gene	gene with protein product		600456				7789988	Standard	NM_001018065		Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000323115.4:c.1289delA	chr9.hg19:g.87359981delA	ENSP00000314586:p.His430fs		B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Frame_Shift_Del	DEL	ENST00000323115.4	hg19	CCDS35050.1																																																																																				0.433	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052882.1			-	87359981	A	-	87359981	7	5	681	1	0	1	0	1	0	0	0	0	10709	217	8	0	1327	0	NTRK2	9	87359981	Frame_Shift_Del	DEL	A	TCGA-IA-A83S-01A-11D-A34Z-10	82278207	87359981	53853450	50	37571											
DAB2IP	153090	hgsc.bcm.edu	37	9	124526156	124526156	+	Silent	SNP	C	C	T			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr9:124526156C>T	ENST00000408936.3	+	8	1640	c.1458C>T	c.(1456-1458)taC>taT	p.Y486Y	DAB2IP_ENST00000309989.1_Silent_p.Y362Y|DAB2IP_ENST00000259371.2_Silent_p.Y458Y			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	486	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				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						TCAACTCCTACTGGTCAGTGC	0.622																																																0													110	89	96					9																	124526156		2203	4300	6503	SO:0001819	synonymous_variant	153090			AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"nGAP-like protein", "DOC-2/DAB2 interactive protein", "ASK-interacting protein", "ASK1-interacting protein 1"	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.1458C>T	chr9.hg19:g.124526156C>T			A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Silent	SNP	ENST00000408936.3	hg19																																																																																					0.622	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317857.1	NM_032552		T	124526156	C	T	124526156	2	4	681	1	0	0	0	0	0	0	0	1	4221	576	20	2		2	DAB2IP	9	124526156	Silent	SNP	C	TCGA-IA-A83S-01A-11D-A34Z-10	37166175	124526156	16687275	51	37572											
TTC16	158248	hgsc.bcm.edu	37	9	130485525	130485525	+	Missense_Mutation	SNP	C	C	A			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr9:130485525C>A	ENST00000373289.3	+	7	865	c.785C>A	c.(784-786)gCt>gAt	p.A262D	PTRH1_ENST00000419060.1_Intron|TTC16_ENST00000489226.1_3'UTR|PTRH1_ENST00000429848.1_Intron|TTC16_ENST00000393748.4_Missense_Mutation_p.A86D	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	262										central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						GGGATCCTGGCTGTGCAGGGC	0.632																																																0													73	63	66					9																	130485525		2203	4300	6503	SO:0001583	missense	158248			AK057342	CCDS6875.1	9q34.13	2013-01-10			ENSG00000167094	ENSG00000167094		"Tetratricopeptide (TTC) repeat domain containing"	26536	protein-coding gene	gene with protein product						12477932	Standard	NM_144965		Approved	FLJ32780	uc004brq.1	Q8NEE8	OTTHUMG00000020711	ENST00000373289.3:c.785C>A	chr9.hg19:g.130485525C>A	ENSP00000362386:p.Ala262Asp		B4DYG4|B5ME24|Q5JU66|Q96M72	Missense_Mutation	SNP	ENST00000373289.3	hg19	CCDS6875.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.592520	0.46214	.	.	ENSG00000167094	ENST00000373289;ENST00000393748;ENST00000316259	T;T	0.63580	-0.05;0.19	5.03	5.03	0.67393	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.77096	0.4080	M	0.75615	2.305	0.37008	D	0.895586	D;D;D	0.89917	1.0;0.991;1.0	D;D;D	0.97110	1.0;0.944;1.0	T	0.79027	-0.1971	10	0.36615	T	0.2	-22.1378	13.7181	0.62710	0.0:1.0:0.0:0.0	.	249;214;262	B4DZ42;B4DH05;Q8NEE8	.;.;TTC16_HUMAN	D	262;86;207	ENSP00000362386:A262D;ENSP00000377349:A86D	ENSP00000319048:A207D	A	+	2	0	TTC16	129525346	0.984000	0.35163	0.496000	0.27539	0.082000	0.17680	3.469000	0.53093	2.623000	0.88846	0.462000	0.41574	GCT		0.632	TTC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054224.1	NM_144965		A	130485525	C	A	130485525	3	1	681	1	0	0	0	0	1	0	0	0	16688	797	28	4	811	4	TTC16	9	130485525	Missense_Mutation	SNP	C	TCGA-IA-A83S-01A-11D-A34Z-10	5959369	130485525	10727906	52	37573											
QRFP	347148	hgsc.bcm.edu	37	9	133768991	133768991	+	Nonsense_Mutation	SNP	T	T	A			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr9:133768991T>A	ENST00000343079.1	-	1	234	c.235A>T	c.(235-237)Aga>Tga	p.R79*		NM_198180.1	NP_937823.1			pyroglutamylated RFamide peptide											cervix(1)|endometrium(3)|lung(1)|skin(2)	7	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.17e-05)|Epithelial(140;0.000267)		GCATGCTCTCTGCCCGATGTC	0.672																																																0													60	62	61					9																	133768991		2203	4300	6503	SO:0001587	stop_gained	347148			AB109625	CCDS6936.1	9q34.12	2013-02-28			ENSG00000188710	ENSG00000188710		"Endogenous ligands"	29982	protein-coding gene	gene with protein product	"prepro-QRFP"	609795				12714592, 15808908	Standard	NM_198180		Approved	26RFa, P518	uc011mcb.2	P83859	OTTHUMG00000131663	ENST00000343079.1:c.235A>T	chr9.hg19:g.133768991T>A	ENSP00000345487:p.Arg79*			Nonsense_Mutation	SNP	ENST00000343079.1	hg19	CCDS6936.1	.	.	.	.	.	.	.	.	.	.	T	17.72	3.459665	0.63401	.	.	ENSG00000188710	ENST00000343079	.	.	.	4.65	-0.931	0.10438	.	0.790949	0.10741	N	0.639422	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0344	6.0641	0.19854	0.0:0.1555:0.4051:0.4393	.	.	.	.	X	79	.	ENSP00000345487:R79X	R	-	1	2	QRFP	132758812	0.000000	0.05858	0.000000	0.03702	0.257000	0.26127	-0.356000	0.07661	-0.361000	0.08125	0.379000	0.24179	AGA		0.672	QRFP-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254566.1	NM_198180		A	133768991	T	A	133768991	4	1	681	1	0	0	0	0	0	1	0	0	12883	1588	55	5	178	5	QRFP	9	133768991	Nonsense_Mutation	SNP	T	TCGA-IA-A83S-01A-11D-A34Z-10	3283466	133768991	7444440	53	37574											
SETX	23064	hgsc.bcm.edu	37	9	135203246	135203246	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr9:135203246delA	ENST00000224140.5	-	10	3921	c.3739delT	c.(3739-3741)tcafs	p.S1247fs	SETX_ENST00000393220.1_Frame_Shift_Del_p.S1247fs|SETX_ENST00000372169.2_Frame_Shift_Del_p.S1247fs	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	1247					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)		TTGGCATCTGAATGAGTTTTC	0.413																																																0													113	109	110					9																	135203246		2203	4300	6503	SO:0001589	frameshift_variant	23064			AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"amyotrophic lateral sclerosis 4", "spinocerebellar ataxia, recessive, non-Friedreich type 1"	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.3739delT	chr9.hg19:g.135203246delA	ENSP00000224140:p.Ser1247fs		A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Frame_Shift_Del	DEL	ENST00000224140.5	hg19	CCDS6947.1																																																																																				0.413	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		-	135203246	A	-	135203246	7	5	681	1	0	1	0	1	0	0	0	0	14147	246	9	0	4362	0	SETX	9	135203246	Frame_Shift_Del	DEL	A	TCGA-IA-A83S-01A-11D-A34Z-10	1434255	135203246	6010185	54	37575											
ITIH5	80760	hgsc.bcm.edu	37	10	7683994	7683994	+	Silent	SNP	G	G	A			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr10:7683994G>A	ENST00000256861.6	-	3	273	c.195C>T	c.(193-195)gcC>gcT	p.A65A	ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000397145.2_Silent_p.A65A|ITIH5_ENST00000397146.2_Silent_p.A65A|ITIH5_ENST00000434980.1_5'Flank	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	65	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				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						CCGTAGTGAAGGCATAACGGG	0.438																																																0													151	135	140					10																	7683994		2203	4300	6503	SO:0001819	synonymous_variant	80760					10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"inter-alpha (globulin) inhibitor H5"			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.195C>T	chr10.hg19:g.7683994G>A			Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Silent	SNP	ENST00000256861.6	hg19																																																																																					0.438	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		A	7683994	G	A	7683994	2	1	681	1	0	0	0	0	0	0	0	1	7909	987	35	2		2	ITIH5	10	7683994	Silent	SNP	G	TCGA-IA-A83S-01A-11D-A34Z-10		7683994	127850753	55	37576											
SLC16A9	220963	hgsc.bcm.edu	37	10	61424076	61424076	+	Silent	SNP	A	A	G			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr10:61424076A>G	ENST00000395348.3	-	4	981	c.345T>C	c.(343-345)ctT>ctC	p.L115L	SLC16A9_ENST00000395347.1_Silent_p.L115L	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	115					urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						AACCACATCCAAGACCTAAGC	0.398																																																0													122	114	117					10																	61424076		2203	4300	6503	SO:0001819	synonymous_variant	220963			AK125791	CCDS7256.1	10q21.3	2013-07-18	2013-07-18	2004-01-21	ENSG00000165449	ENSG00000165449		"Solute carriers"	23520	protein-coding gene	gene with protein product	"monocarboxylic acid transporter 9"	614242	"chromosome 10 open reading frame 36", "solute carrier family 16 (monocarboxylic acid transporters), member 9", "solute carrier family 16, member 9 (monocarboxylic acid transporter 9)"	C10orf36			Standard	NM_194298		Approved	FLJ43803, MCT9	uc010qig.1	Q7RTY1	OTTHUMG00000018283	ENST00000395348.3:c.345T>C	chr10.hg19:g.61424076A>G			Q6ZMI2|Q9UFH8	Silent	SNP	ENST00000395348.3	hg19	CCDS7256.1																																																																																				0.398	SLC16A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048174.2	NM_194298		G	61424076	A	G	61424076	2	3	681	1	0	0	0	0	0	0	0	1	14421	117	5	3		3	SLC16A9	10	61424076	Silent	SNP	A	TCGA-IA-A83S-01A-11D-A34Z-10	53740082	61424076	74110671	56	37577											
POLR3A	11128	hgsc.bcm.edu	37	10	79744981	79744981	+	Silent	SNP	G	G	A			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr10:79744981G>A	ENST00000372371.3	-	24	3326	c.3189C>T	c.(3187-3189)atC>atT	p.I1063I		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	1063					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)			CGCCCAGGGTGATGTTCATGG	0.542																																																0													145	140	141					10																	79744981		2203	4300	6503	SO:0001819	synonymous_variant	11128			AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"RNA polymerase subunits"	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.3189C>T	chr10.hg19:g.79744981G>A			Q8IW34|Q8TCW5	Silent	SNP	ENST00000372371.3	hg19	CCDS7354.1																																																																																				0.542	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048923.1	NM_007055		A	79744981	G	A	79744981	2	1	681	1	0	0	0	0	0	0	0	1	12230	1280	45	2		2	POLR3A	10	79744981	Silent	SNP	G	TCGA-IA-A83S-01A-11D-A34Z-10	18320905	79744981	55789766	57	37578											
C10orf76	79591	hgsc.bcm.edu	37	10	103769138	103769138	+	Nonsense_Mutation	SNP	A	A	C			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr10:103769138A>C	ENST00000370033.4	-	13	1066	c.947T>G	c.(946-948)tTa>tGa	p.L316*		NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	316						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)		AACCTGAGCTAATACTGTGAT	0.348																																																0													229	229	229					10																	103769138		1812	4082	5894	SO:0001587	stop_gained	79591			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.947T>G	chr10.hg19:g.103769138A>C	ENSP00000359050:p.Leu316*		Q2TB87|Q9H8Z9	Nonsense_Mutation	SNP	ENST00000370033.4	hg19	CCDS41563.1	.	.	.	.	.	.	.	.	.	.	A	37	6.589992	0.97688	.	.	ENSG00000120029	ENST00000370033	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.4391	13.0603	0.59003	0.8661:0.1339:0.0:0.0	.	.	.	.	X	316	.	ENSP00000359050:L316X	L	-	2	0	C10orf76	103759128	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	8.160000	0.89653	2.326000	0.78906	0.533000	0.62120	TTA		0.348	C10orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050007.1	NM_024541		C	103769138	A	C	103769138	4	2	681	1	0	0	0	0	0	1	0	0	1618	372	13	5	1178	5	C10orf76	10	103769138	Nonsense_Mutation	SNP	A	TCGA-IA-A83S-01A-11D-A34Z-10	24024157	103769138	31765609	58	37579											
C10orf79	80217	hgsc.bcm.edu	37	10	105926263	105926263	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr10:105926263delG	ENST00000357060.3	-	23	3137	c.3022delC	c.(3022-3024)caafs	p.Q1008fs	WDR96_ENST00000428666.1_Frame_Shift_Del_p.Q1009fs	NM_025145.5	NP_079421.5														NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AATATAATTTGGTTGATTTTC	0.383																																																0													72	70	71					10																	105926263		2203	4300	6503	SO:0001589	frameshift_variant	80217																														ENST00000357060.3:c.3022delC	chr10.hg19:g.105926263delG	ENSP00000349568:p.Gln1008fs			Frame_Shift_Del	DEL	ENST00000357060.3	hg19	CCDS31281.1																																																																																				0.383	WDR96-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				-	105926263	G	-	105926263	7	5	681	1	0	1	0	1	0	0	0	0	1620	1357	47	0	2039	0	C10orf79	10	105926263	Frame_Shift_Del	DEL	G	TCGA-IA-A83S-01A-11D-A34Z-10	2157125	105926263	29608484	59	37580											
ATRNL1	26033	hgsc.bcm.edu	37	10	116919943	116919943	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr10:116919943delT	ENST00000355044.3	+	6	1098	c.972delT	c.(970-972)actfs	p.T324fs	ATRNL1_ENST00000527407.1_Frame_Shift_Del_p.T324fs|ATRNL1_ENST00000529665.1_3'UTR	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	324					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		GTGGATATACTTTTAACTACA	0.343																																																0													197	205	202					10																	116919943		2203	4300	6503	SO:0001589	frameshift_variant	26033			AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.972delT	chr10.hg19:g.116919943delT	ENSP00000347152:p.Thr324fs		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Frame_Shift_Del	DEL	ENST00000355044.3	hg19	CCDS7592.1																																																																																				0.343	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		-	116919943	T	-	116919943	7	5	681	1	0	1	0	1	0	0	0	0	1207	1596	56	0	994	0	ATRNL1	10	116919943	Frame_Shift_Del	DEL	T	TCGA-IA-A83S-01A-11D-A34Z-10	10993680	116919943	18614804	60	37581	285	2									
ATRNL1	26033	hgsc.bcm.edu	37	10	116919947	116919947	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr10:116919947delA	ENST00000355044.3	+	6	1102	c.976delA	c.(976-978)aacfs	p.N326fs	ATRNL1_ENST00000527407.1_Frame_Shift_Del_p.N326fs|ATRNL1_ENST00000529665.1_3'UTR	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	326					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		ATATACTTTTAACTACAGTTC	0.333																																																0													189	198	195					10																	116919947		2203	4300	6503	SO:0001589	frameshift_variant	26033			AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.976delA	chr10.hg19:g.116919947delA	ENSP00000347152:p.Asn326fs		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Frame_Shift_Del	DEL	ENST00000355044.3	hg19	CCDS7592.1																																																																																				0.333	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		-	116919947	A	-	116919947	7	5	681	1	0	1	0	1	0	0	0	0	1207	362	13	0	998	0	ATRNL1	10	116919947	Frame_Shift_Del	DEL	A	TCGA-IA-A83S-01A-11D-A34Z-10	4	116919947	18614800	61	37582	285	2									
SEC23IP	11196	hgsc.bcm.edu	37	10	121689138	121689138	+	Missense_Mutation	SNP	C	C	T			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr10:121689138C>T	ENST00000369075.3	+	14	2405	c.2333C>T	c.(2332-2334)tCa>tTa	p.S778L	SEC23IP_ENST00000543134.1_Missense_Mutation_p.S567L	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	778					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)		GCTTACAACTCATTAGATTTT	0.373																																																0													167	171	170					10																	121689138		2203	4300	6503	SO:0001583	missense	11196			AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651		"Sterile alpha motif (SAM) domain containing"	17018	protein-coding gene	gene with protein product						10400679	Standard	NM_007190		Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.2333C>T	chr10.hg19:g.121689138C>T	ENSP00000358071:p.Ser778Leu		D3DRD2|Q8IXH5|Q9BUK5	Missense_Mutation	SNP	ENST00000369075.3	hg19	CCDS7618.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.153540	0.57259	.	.	ENSG00000107651	ENST00000369075;ENST00000543134	T;T	0.31247	1.5;1.5	5.62	5.62	0.85841	.	0.316794	0.35013	N	0.003513	T	0.31827	0.0809	L	0.47716	1.5	0.47862	D	0.99953	P;B	0.34977	0.478;0.399	B;B	0.33254	0.16;0.101	T	0.04333	-1.0959	10	0.41790	T	0.15	-14.0611	19.6585	0.95853	0.0:1.0:0.0:0.0	.	567;778	F5H0L8;Q9Y6Y8	.;S23IP_HUMAN	L	778;567	ENSP00000358071:S778L;ENSP00000438773:S567L	ENSP00000358071:S778L	S	+	2	0	SEC23IP	121679128	0.007000	0.16637	1.000000	0.80357	0.991000	0.79684	2.352000	0.44080	2.657000	0.90304	0.467000	0.42956	TCA		0.373	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050688.1			T	121689138	C	T	121689138	3	4	681	1	0	0	0	0	1	0	0	0	13999	838	29	2	2387	2	SEC23IP	10	121689138	Missense_Mutation	SNP	C	TCGA-IA-A83S-01A-11D-A34Z-10	4769191	121689138	13845609	62	37583											
RIC8A	60626	hgsc.bcm.edu	37	11	209732	209732	+	Missense_Mutation	SNP	A	A	G			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr11:209732A>G	ENST00000526104.1	+	3	1802	c.458A>G	c.(457-459)gAg>gGg	p.E153G	RIC8A_ENST00000325207.5_Missense_Mutation_p.E153G|BET1L_ENST00000486280.1_5'Flank|BET1L_ENST00000382762.3_5'Flank|BET1L_ENST00000325147.9_5'Flank|BET1L_ENST00000529614.2_5'Flank|BET1L_ENST00000410108.1_5'Flank|BET1L_ENST00000332865.6_5'Flank|RIC8A_ENST00000527696.1_Missense_Mutation_p.E147G			Q9NPQ8	RIC8A_HUMAN	RIC8 guanine nucleotide exchange factor A	153					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)		CTGTACCGTGAGAGGAGCTTC	0.617																																																0													58	52	54					11																	209732		2203	4300	6503	SO:0001583	missense	60626			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.458A>G	chr11.hg19:g.209732A>G	ENSP00000432008:p.Glu153Gly		Q0P508|Q2T9J1|Q7Z352|Q96EZ1|Q96SZ2|Q9H064|Q9H5H3|Q9H9E7	Missense_Mutation	SNP	ENST00000526104.1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.91|12.91	2.079005|2.079005	0.36662|0.36662	.|.	.|.	ENSG00000177963|ENSG00000177963	ENST00000526104;ENST00000325207;ENST00000528357;ENST00000530889;ENST00000527696;ENST00000527468|ENST00000527728	.|.	.|.	.|.	4.45|4.45	1.98|1.98	0.26296|0.26296	Armadillo-type fold (1);|.	0.388332|.	0.27618|.	N|.	0.018576|.	T|T	0.45796|0.45796	0.1360|0.1360	M|M	0.65498|0.65498	2.005|2.005	0.09310|0.09310	N|N	0.999999|0.999999	P;P;P|.	0.36837|.	0.547;0.571;0.515|.	B;B;B|.	0.37198|.	0.221;0.243;0.156|.	T|T	0.33879|0.33879	-0.9851|-0.9851	9|5	0.37606|.	T|.	0.19|.	-8.9933|-8.9933	7.3499|7.3499	0.26684|0.26684	0.7073:0.1496:0.0:0.143|0.7073:0.1496:0.0:0.143	.|.	147;153;153|.	Q9NPQ8-2;Q9NPQ8;Q9NPQ8-3|.	.;RIC8A_HUMAN;.|.	G|G	153;153;129;157;147;43|35	.|.	ENSP00000325941:E153G|.	E|R	+|+	2|1	0|2	RIC8A|RIC8A	199732|199732	0.977000|0.977000	0.34250|0.34250	0.001000|0.001000	0.08648|0.08648	0.623000|0.623000	0.37688|0.37688	2.748000|2.748000	0.47483|0.47483	0.257000|0.257000	0.21650|0.21650	-0.444000|-0.444000	0.05651|0.05651	GAG|AGA		0.617	RIC8A-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000384761.1	NM_021932		G	209732	A	G	209732	3	3	681	1	0	0	0	0	1	0	0	0	13361	304	11	3	468	3	RIC8A	11	209732	Missense_Mutation	SNP	A	TCGA-IA-A83S-01A-11D-A34Z-10		209732	134796784	63	37584											
OR10A2	341276	hgsc.bcm.edu	37	11	6891542	6891542	+	Missense_Mutation	SNP	C	C	T			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr11:6891542C>T	ENST00000307322.4	+	1	619	c.557C>T	c.(556-558)gCc>gTc	p.A186V		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	186						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(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GAGATCTACGCCATCGTCGGA	0.507																																																0													241	183	203					11																	6891542		2201	4296	6497	SO:0001583	missense	341276			BK004293	CCDS31415.1	11p15.4	2012-08-09		2004-03-10	ENSG00000170790	ENSG00000170790		"GPCR / Class A : Olfactory receptors"	8161	protein-coding gene	gene with protein product				OR10A2P			Standard	NM_001004460		Approved	OST363	uc001meu.1	Q9H208	OTTHUMG00000165739	ENST00000307322.4:c.557C>T	chr11.hg19:g.6891542C>T	ENSP00000303862:p.Ala186Val		B2RNL9|Q6IFG9	Missense_Mutation	SNP	ENST00000307322.4	hg19	CCDS31415.1	.	.	.	.	.	.	.	.	.	.	c	2.385	-0.341102	0.05243	.	.	ENSG00000170790	ENST00000307322	T	0.00034	8.87	4.18	4.18	0.49190	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000019	T	0.00073	0.0002	N	0.00282	-1.705	0.25130	N	0.990577	D	0.76494	0.999	D	0.73708	0.981	T	0.66085	-0.6011	10	0.02654	T	1	.	9.6519	0.39904	0.2081:0.7919:0.0:0.0	.	186	Q9H208	O10A2_HUMAN	V	186	ENSP00000303862:A186V	ENSP00000303862:A186V	A	+	2	0	OR10A2	6848118	0.000000	0.05858	0.985000	0.45067	0.372000	0.29890	0.467000	0.22035	2.356000	0.79943	0.650000	0.86243	GCC		0.507	OR10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385984.1	NM_001004460		T	6891542	C	T	6891542	3	4	681	1	0	0	0	0	1	0	0	0	10892	739	26	2	559	2	OR10A2	11	6891542	Missense_Mutation	SNP	C	TCGA-IA-A83S-01A-11D-A34Z-10	6681810	6891542	128114974	64	37585											
MICAL2	9645	hgsc.bcm.edu	37	11	12244191	12244191	+	Silent	SNP	G	G	A			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr11:12244191G>A	ENST00000256194.4	+	11	1638	c.1350G>A	c.(1348-1350)caG>caA	p.Q450Q	MICAL2_ENST00000342902.5_Silent_p.Q450Q|MICAL2_ENST00000537344.1_Silent_p.Q450Q|MICAL2_ENST00000379612.3_Silent_p.Q450Q|MICAL2_ENST00000527546.1_Silent_p.Q450Q	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	450	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)		TGTTACCTCAGACAACCCCGG	0.572																																																0													93	75	81					11																	12244191		2201	4294	6495	SO:0001819	synonymous_variant	9645			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.1350G>A	chr11.hg19:g.12244191G>A			B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Silent	SNP	ENST00000256194.4	hg19	CCDS7809.1																																																																																				0.572	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	NM_014632		A	12244191	G	A	12244191	2	1	681	1	0	0	0	0	0	0	0	1	9572	933	33	2		2	MICAL2	11	12244191	Silent	SNP	G	TCGA-IA-A83S-01A-11D-A34Z-10	5352649	12244191	122762325	65	37586											
SLC1A2	6506	hgsc.bcm.edu	37	11	35287253	35287254	+	In_Frame_Ins	INS	-	-	CCCCCC			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr11:35287253_35287254insCCCCCC	ENST00000278379.3	-	10	1755_1756	c.1473_1474insGGGGGG	c.(1471-1476)gggata>gggGGGGGGata	p.490_491insGG	SLC1A2_ENST00000479543.1_5'UTR|SLC1A2_ENST00000395750.1_In_Frame_Ins_p.481_482insGG|SLC1A2_ENST00000395753.1_In_Frame_Ins_p.481_482insGG|SLC1A2_ENST00000606205.1_In_Frame_Ins_p.490_491insGG	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	490					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)	p.I492L(1)		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)			TGATAGACTATCCCAGCCCCAA	0.45																																					NSCLC(100;1273 1575 12993 16869 47409)|Ovarian(164;45 1946 8965 30452 48454)											1	Substitution - Missense(1)	large_intestine(1)																																								SO:0001652	inframe_insertion	6506			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.1473_1474insGGGGGG	chr11.hg19:g.35287253_35287254insCCCCCC	ENSP00000278379:p.Ala490_Gly491insGlyGly		B4DQE9|Q14417|Q541G6|U3KQQ4	In_Frame_Ins	INS	ENST00000278379.3	hg19	CCDS31459.1																																																																																				0.45	SLC1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258181.1	NM_004171		CCCCCC	35287254	-	CCCCCC	35287253	7	5	681	1	0	1	1	0	0	0	0	0	14438	1435	50	0	258	0	SLC1A2	11	35287253	In_Frame_Ins	INS	-	TCGA-IA-A83S-01A-11D-A34Z-10	23043062	35287253	99719263	66	37587											
OR5AS1	219447	hgsc.bcm.edu	37	11	55798423	55798423	+	Missense_Mutation	SNP	T	T	G			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr11:55798423T>G	ENST00000313555.1	+	1	529	c.529T>G	c.(529-531)Ttt>Gtt	p.F177V		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	177						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)					CGTCAATCATTTTTTCTGTGA	0.443																																																0													266	261	263					11																	55798423		2201	4296	6497	SO:0001583	missense	219447			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.529T>G	chr11.hg19:g.55798423T>G	ENSP00000324111:p.Phe177Val		Q6IFB8	Missense_Mutation	SNP	ENST00000313555.1	hg19	CCDS31516.1	.	.	.	.	.	.	.	.	.	.	T	11.96	1.793640	0.31685	.	.	ENSG00000181785	ENST00000313555	T	0.00350	7.98	5.46	4.31	0.51392	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35805	U	0.002971	T	0.01092	0.0036	M	0.93150	3.385	0.09310	N	0.999993	D	0.89917	1.0	D	0.87578	0.998	T	0.20338	-1.0278	10	0.54805	T	0.06	.	11.6	0.50997	0.0:0.0:0.1495:0.8505	.	177	Q8N127	O5AS1_HUMAN	V	177	ENSP00000324111:F177V	ENSP00000324111:F177V	F	+	1	0	OR5AS1	55554999	0.995000	0.38212	0.667000	0.29798	0.142000	0.21351	2.802000	0.47916	0.882000	0.36016	0.523000	0.50628	TTT		0.443	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391538.1	NM_001001921		G	55798423	T	G	55798423	3	3	681	1	0	0	0	0	1	0	0	0	11148	1841	64	5	531	5	OR5AS1	11	55798423	Missense_Mutation	SNP	T	TCGA-IA-A83S-01A-11D-A34Z-10	20511170	55798423	79208093	67	37588											
OR5M10	390167	hgsc.bcm.edu	37	11	56344355	56344355	+	Missense_Mutation	SNP	C	C	A			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr11:56344355C>A	ENST00000526812.2	-	1	908	c.843G>T	c.(841-843)ttG>ttT	p.L281F		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	281						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(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						GCATTGGGCTCAAAAAAGTAT	0.393																																																0													189	187	188					11																	56344355		1827	4083	5910	SO:0001583	missense	390167			BK004515	CCDS53630.1	11q11	2012-08-09				ENSG00000254834		"GPCR / Class A : Olfactory receptors"	15290	protein-coding gene	gene with protein product							Standard	NM_001004741		Approved		uc001niz.1	Q6IEU7		ENST00000526812.2:c.843G>T	chr11.hg19:g.56344355C>A	ENSP00000436004:p.Leu281Phe		B9EIL9	Missense_Mutation	SNP	ENST00000526812.2	hg19	CCDS53630.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.034578	0.54896	.	.	ENSG00000254834	ENST00000526812	T	0.00202	8.56	4.2	1.22	0.21188	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00210	0.0006	N	0.21282	0.65	0.24031	N	0.996113	D	0.53151	0.958	P	0.55455	0.776	T	0.54248	-0.8322	9	0.87932	D	0	.	5.4515	0.16568	0.0:0.5849:0.1474:0.2677	.	281	Q6IEU7	OR5MA_HUMAN	F	281	ENSP00000436004:L281F	ENSP00000436004:L281F	L	-	3	2	OR5M10	56100931	0.000000	0.05858	0.819000	0.32651	0.878000	0.50629	-1.843000	0.01680	0.149000	0.19098	0.632000	0.83419	TTG		0.393	OR5M10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391609.1	NM_001004741		A	56344355	C	A	56344355	3	1	681	1	0	0	0	0	1	0	0	0	11175	825	29	4	108	4	OR5M10	11	56344355	Missense_Mutation	SNP	C	TCGA-IA-A83S-01A-11D-A34Z-10	545932	56344355	78662161	68	37589											
FAM111B	374393	hgsc.bcm.edu	37	11	58893342	58893342	+	Missense_Mutation	SNP	C	C	A			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr11:58893342C>A	ENST00000343597.3	+	4	1963	c.1772C>A	c.(1771-1773)aCt>aAt	p.T591N	FAM111B_ENST00000529618.1_Missense_Mutation_p.T561N|FAM111B_ENST00000411426.1_Missense_Mutation_p.T561N	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	591							catalytic activity (GO:0003824)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						GATGGTTGTACTGTGATTCCT	0.383																																																0													126	110	115					11																	58893342		2201	4295	6496	SO:0001583	missense	374393			BC062456	CCDS7972.1, CCDS44611.1	11q12.1	2014-03-13			ENSG00000189057	ENSG00000189057			24200	protein-coding gene	gene with protein product		615584				24268661	Standard	NM_198947		Approved	CANP	uc001nnl.3	Q6SJ93	OTTHUMG00000167279	ENST00000343597.3:c.1772C>A	chr11.hg19:g.58893342C>A	ENSP00000341565:p.Thr591Asn		B4E2G2|Q6P661	Missense_Mutation	SNP	ENST00000343597.3	hg19	CCDS7972.1	.	.	.	.	.	.	.	.	.	.	C	11.22	1.573566	0.28092	.	.	ENSG00000189057	ENST00000411426;ENST00000529618;ENST00000343597	T;T;T	0.33438	1.41;1.41;1.41	4.62	2.75	0.32379	Peptidase cysteine/serine, trypsin-like (1);	0.662303	0.13892	N	0.355572	T	0.23249	0.0562	L	0.27053	0.805	0.09310	N	1	B	0.33413	0.411	B	0.37346	0.247	T	0.17776	-1.0358	10	0.56958	D	0.05	.	7.9224	0.29854	0.0:0.8058:0.0:0.1942	.	591	Q6SJ93	F111B_HUMAN	N	561;561;591	ENSP00000393855:T561N;ENSP00000432875:T561N;ENSP00000341565:T591N	ENSP00000341565:T591N	T	+	2	0	FAM111B	58649918	0.000000	0.05858	0.001000	0.08648	0.166000	0.22503	-0.344000	0.07780	0.571000	0.29365	0.650000	0.86243	ACT		0.383	FAM111B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393974.1	NM_198947		A	58893342	C	A	58893342	3	1	681	1	0	0	0	0	1	0	0	0	5402	565	20	4	1778	4	FAM111B	11	58893342	Missense_Mutation	SNP	C	TCGA-IA-A83S-01A-11D-A34Z-10	2548987	58893342	76113174	69	37590											
TMEM132A	54972	hgsc.bcm.edu	37	11	60704300	60704300	+	Missense_Mutation	SNP	G	G	C			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr11:60704300G>C	ENST00000453848.2	+	11	3151	c.2993G>C	c.(2992-2994)cGc>cCc	p.R998P	TMEM132A_ENST00000005286.4_Missense_Mutation_p.R999P			Q24JP5	T132A_HUMAN	transmembrane protein 132A	998	Confers cellular localization similar to full-length form. {ECO:0000250}.					endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						GAGGACATCCGCTGGGTGTGT	0.627																																																0													33	41	38					11																	60704300		2203	4299	6502	SO:0001583	missense	54972			AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.2993G>C	chr11.hg19:g.60704300G>C	ENSP00000405823:p.Arg998Pro		Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Missense_Mutation	SNP	ENST00000453848.2	hg19	CCDS44618.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.965535	0.53507	.	.	ENSG00000006118	ENST00000444690;ENST00000453848;ENST00000005286	T;T	0.05925	3.37;3.37	4.55	3.63	0.41609	.	0.492294	0.18280	N	0.146041	T	0.13415	0.0325	L	0.47716	1.5	0.34714	D	0.728022	D;D	0.71674	0.998;0.998	P;P	0.59643	0.861;0.861	T	0.13361	-1.0512	10	0.87932	D	0	-19.0101	7.9668	0.30104	0.0827:0.0:0.7597:0.1576	.	998;999	Q24JP5;Q24JP5-2	T132A_HUMAN;.	P	749;998;999	ENSP00000405823:R998P;ENSP00000005286:R999P	ENSP00000005286:R999P	R	+	2	0	TMEM132A	60460876	0.286000	0.24305	1.000000	0.80357	0.998000	0.95712	1.948000	0.40303	1.282000	0.44496	0.655000	0.94253	CGC		0.627	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396352.1	NM_017870		C	60704300	G	C	60704300	3	2	681	1	0	0	0	0	1	0	0	0	16050	1087	38	4	3038	4	TMEM132A	11	60704300	Missense_Mutation	SNP	G	TCGA-IA-A83S-01A-11D-A34Z-10	1810958	60704300	74302216	70	37591											
CPT1A	1374	hgsc.bcm.edu	37	11	68571538	68571538	+	Missense_Mutation	SNP	G	G	T			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr11:68571538G>T	ENST00000265641.5	-	5	639	c.485C>A	c.(484-486)cCc>cAc	p.P162H	CPT1A_ENST00000540367.1_Missense_Mutation_p.P162H|CPT1A_ENST00000539743.1_Missense_Mutation_p.P162H|CPT1A_ENST00000376618.2_Missense_Mutation_p.P162H	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	162					carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	GTACAACATGGGTTTTCGGCC	0.498																																																0													97	88	91					11																	68571538		2200	4294	6494	SO:0001583	missense	1374			L39211	CCDS8185.1, CCDS31624.1	11q13.2	2007-07-26				ENSG00000110090	2.3.1.21		2328	protein-coding gene	gene with protein product		600528		CPT1		7892212, 9070950	Standard	NM_001876		Approved	CPT1-L, L-CPT1	uc001oog.4	P50416		ENST00000265641.5:c.485C>A	chr11.hg19:g.68571538G>T	ENSP00000265641:p.Pro162His		Q8TCU0|Q9BWK0	Missense_Mutation	SNP	ENST00000265641.5	hg19	CCDS8185.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.056444	0.76074	.	.	ENSG00000110090	ENST00000540367;ENST00000376618;ENST00000265641;ENST00000538308;ENST00000539743	D;D;D;D	0.85258	-1.96;-1.96;-1.96;-1.96	5.11	4.2	0.49525	.	0.053589	0.85682	D	0.000000	D	0.92625	0.7657	M	0.87038	2.855	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.80764	0.987;0.967;0.994	D	0.93446	0.6798	10	0.72032	D	0.01	.	13.5493	0.61723	0.0755:0.0:0.9245:0.0	.	162;162;162	B2RAQ8;P50416;P50416-2	.;CPT1A_HUMAN;.	H	162	ENSP00000439084:P162H;ENSP00000365803:P162H;ENSP00000265641:P162H;ENSP00000446108:P162H	ENSP00000265641:P162H	P	-	2	0	CPT1A	68328114	1.000000	0.71417	0.590000	0.28732	0.888000	0.51559	9.426000	0.97469	1.162000	0.42619	0.591000	0.81541	CCC		0.498	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397457.2	NM_001876		T	68571538	G	T	68571538	3	4	681	1	0	0	0	0	1	0	0	0	3833	1232	43	4	1936	4	CPT1A	11	68571538	Missense_Mutation	SNP	G	TCGA-IA-A83S-01A-11D-A34Z-10	7867238	68571538	66434978	71	37592											
PCF11	51585	hgsc.bcm.edu	37	11	82877674	82877674	+	Missense_Mutation	SNP	A	A	G			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr11:82877674A>G	ENST00000298281.4	+	5	2187	c.1735A>G	c.(1735-1737)Act>Gct	p.T579A		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	579					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						AAAGTCAGGCACTGAACCAAA	0.393																																																0													64	64	64					11																	82877674		1850	4075	5925	SO:0001583	missense	51585			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.1735A>G	chr11.hg19:g.82877674A>G	ENSP00000298281:p.Thr579Ala		A6H8W7|O43671|Q6P0X8	Missense_Mutation	SNP	ENST00000298281.4	hg19	CCDS44689.1	.	.	.	.	.	.	.	.	.	.	A	7.818	0.717156	0.15372	.	.	ENSG00000165494	ENST00000298281;ENST00000530660;ENST00000530304	T;T;T	0.42131	1.99;0.98;0.99	6.07	-8.05	0.01106	.	1.378680	0.04525	N	0.385316	T	0.18130	0.0435	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	0.10337	-1.0634	9	.	.	.	.	2.4752	0.04574	0.2456:0.0806:0.1902:0.4836	.	579;579	E9PQ01;O94913	.;PCF11_HUMAN	A	579	ENSP00000298281:T579A;ENSP00000434540:T579A;ENSP00000431567:T579A	.	T	+	1	0	PCF11	82555322	0.000000	0.05858	0.178000	0.23040	0.985000	0.73830	-0.195000	0.09546	-1.112000	0.02984	0.533000	0.62120	ACT		0.393	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885		G	82877674	A	G	82877674	3	3	681	1	0	0	0	0	1	0	0	0	11575	159	6	3	1753	3	PCF11	11	82877674	Missense_Mutation	SNP	A	TCGA-IA-A83S-01A-11D-A34Z-10	14306136	82877674	52128842	72	37593											
C3AR1	719	hgsc.bcm.edu	37	12	8212016	8212016	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr12:8212016delA	ENST00000307637.4	-	2	969	c.766delT	c.(766-768)tctfs	p.S256fs		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	256					blood circulation (GO:0008015)|chemotaxis (GO:0006935)|complement receptor mediated signaling pathway (GO:0002430)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation vascular endothelial growth factor production (GO:0010575)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C3a anaphylatoxin receptor activity (GO:0004943)|complement component C3a receptor activity (GO:0004876)|G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		AATACATTAGAATACAGATTT	0.433																																																0													64	66	66					12																	8212016		2203	4300	6503	SO:0001589	frameshift_variant	719			U28488	CCDS8588.1	12p13.31	2012-08-10				ENSG00000171860		"Complement system", "GPCR / Class A : Complement component receptors"	1319	protein-coding gene	gene with protein product		605246				8605247	Standard	NM_004054		Approved	C3AR, AZ3B	uc001qtv.1	Q16581		ENST00000307637.4:c.766delT	chr12.hg19:g.8212016delA	ENSP00000302079:p.Ser256fs		O43771|Q92868	Frame_Shift_Del	DEL	ENST00000307637.4	hg19	CCDS8588.1																																																																																				0.433	C3AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400254.1			-	8212016	A	-	8212016	7	5	681	1	0	1	0	1	0	0	0	0	2207	246	9	0	686	0	C3AR1	12	8212016	Frame_Shift_Del	DEL	A	TCGA-IA-A83S-01A-11D-A34Z-10		8212016	125639879	73	37594											
GPD1	2819	hgsc.bcm.edu	37	12	50500627	50500627	+	Missense_Mutation	SNP	T	T	C			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr12:50500627T>C	ENST00000301149.3	+	5	771	c.539T>C	c.(538-540)cTg>cCg	p.L180P	GPD1_ENST00000547190.1_3'UTR|GPD1_ENST00000548814.1_Missense_Mutation_p.L157P	NM_001257199.1|NM_005276.3	NP_001244128.1|NP_005267.2	P21695	GPDA_HUMAN	glycerol-3-phosphate dehydrogenase 1 (soluble)	180					cellular lipid metabolic process (GO:0044255)|cellular response to cAMP (GO:0071320)|cellular response to tumor necrosis factor (GO:0071356)|gluconeogenesis (GO:0006094)|glycerol-3-phosphate catabolic process (GO:0046168)|glycerophosphate shuttle (GO:0006127)|glycerophospholipid biosynthetic process (GO:0046474)|NADH oxidation (GO:0006116)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of glycolytic process (GO:0045821)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycerol-3-phosphate dehydrogenase complex (GO:0009331)|mitochondrion (GO:0005739)	glycerol-3-phosphate dehydrogenase [NAD+] activity (GO:0004367)|glycerol-3-phosphate dehydrogenase activity (GO:0004368)|NAD binding (GO:0051287)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						CTGAAAGAGCTGATGCAGACA	0.498																																					NSCLC(141;1402 1905 9497 13391 44868)											0													64	58	60					12																	50500627		2203	4300	6503	SO:0001583	missense	2819				CCDS8799.1, CCDS58229.1	12q13.12	2013-09-20			ENSG00000167588	ENSG00000167588	1.1.1.8		4455	protein-coding gene	gene with protein product		138420					Standard	NM_005276		Approved		uc001rvz.4	P21695	OTTHUMG00000169813	ENST00000301149.3:c.539T>C	chr12.hg19:g.50500627T>C	ENSP00000301149:p.Leu180Pro		F8W1L5|Q8N1B0	Missense_Mutation	SNP	ENST00000301149.3	hg19	CCDS8799.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.604642	0.87157	.	.	ENSG00000167588	ENST00000301149;ENST00000547190;ENST00000548814	T;T	0.59364	0.27;0.27	5.39	5.39	0.77823	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.84497	0.5485	H	0.97659	4.05	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.99;1.0	D	0.90186	0.4246	10	0.87932	D	0	-14.9432	15.7152	0.77663	0.0:0.0:0.0:1.0	.	157;180	F8W1L5;P21695	.;GPDA_HUMAN	P	180;180;157	ENSP00000301149:L180P;ENSP00000446768:L157P	ENSP00000301149:L180P	L	+	2	0	GPD1	48786894	1.000000	0.71417	0.998000	0.56505	0.925000	0.55904	8.040000	0.89188	2.184000	0.69523	0.459000	0.35465	CTG		0.498	GPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406018.1			C	50500627	T	C	50500627	3	2	681	1	0	0	0	0	1	0	0	0	6606	1580	55	3	557	3	GPD1	12	50500627	Missense_Mutation	SNP	T	TCGA-IA-A83S-01A-11D-A34Z-10	42288611	50500627	83351268	74	37595											
PCBP2	5094	hgsc.bcm.edu	37	12	53848614	53848614	+	Missense_Mutation	SNP	A	A	C			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr12:53848614A>C	ENST00000439930.3	+	1	52	c.30A>C	c.(28-30)ttA>ttC	p.L10F	PCBP2_ENST00000603815.1_Missense_Mutation_p.L10F|PCBP2_ENST00000546463.1_Missense_Mutation_p.L10F|PCBP2_ENST00000359462.5_Missense_Mutation_p.L10F|PCBP2_ENST00000552819.1_Missense_Mutation_p.L10F|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000437231.1_Missense_Mutation_p.L10F|PCBP2_ENST00000359282.5_Missense_Mutation_p.L10F|PCBP2_ENST00000549863.1_Missense_Mutation_p.L10F|PCBP2_ENST00000455667.3_Missense_Mutation_p.L10F|PCBP2_ENST00000447282.1_Missense_Mutation_p.L10F|PCBP2_ENST00000552296.2_Missense_Mutation_p.L10F|PCBP2_ENST00000548933.1_Missense_Mutation_p.L10F|PCBP2_ENST00000541275.1_Missense_Mutation_p.L10F			Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	10					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						AAGGTGGATTAAATGTCACTC	0.517																																																0													148	122	131					12																	53848614		2203	4300	6503	SO:0001583	missense	5094			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.30A>C	chr12.hg19:g.53848614A>C	ENSP00000408949:p.Leu10Phe		A8K7X6|F8VYL7|G3V0E8|I6L8F9|Q32Q82|Q59HD4|Q68Y55|Q6IPF4|Q6PKG5	Missense_Mutation	SNP	ENST00000439930.3	hg19	CCDS44901.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.950795	0.73787	.	.	ENSG00000197111	ENST00000541275;ENST00000359282;ENST00000447282;ENST00000437231;ENST00000439930;ENST00000549863;ENST00000359462;ENST00000550927;ENST00000546463;ENST00000550192;ENST00000551104;ENST00000550520;ENST00000552296;ENST00000552083;ENST00000552819;ENST00000455667;ENST00000548933	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.50277	0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.75;0.87;0.87;0.87;0.87	5.15	5.15	0.70609	.	0.145946	0.46758	D	0.000266	T	0.65903	0.2736	M	0.77820	2.39	0.46981	D	0.999279	D;D;D;D;D;D;D;D;D	0.89917	0.998;1.0;0.999;0.999;0.981;1.0;0.999;1.0;0.999	D;D;D;D;D;D;D;D;D	0.87578	0.98;0.997;0.99;0.979;0.949;0.998;0.979;0.996;0.99	T	0.68622	-0.5360	10	0.56958	D	0.05	.	8.701	0.34325	0.9141:0.0:0.0859:0.0	.	10;10;10;10;10;10;10;10;10	B4DLC0;F8VRG9;Q15366;Q32Q82;G3V0E8;F8VYL7;Q68Y55;Q6IPF4;A8K7X6	.;.;PCBP2_HUMAN;.;.;.;.;.;.	F	10	ENSP00000446130:L10F;ENSP00000352228:L10F;ENSP00000394116:L10F;ENSP00000390304:L10F;ENSP00000408949:L10F;ENSP00000447670:L10F;ENSP00000352438:L10F;ENSP00000448762:L10F;ENSP00000448079:L10F;ENSP00000446601:L10F;ENSP00000448847:L10F;ENSP00000448927:L10F;ENSP00000449070:L10F;ENSP00000388008:L10F;ENSP00000449062:L10F	ENSP00000352228:L10F	L	+	3	2	PCBP2	52134881	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	0.763000	0.26517	2.171000	0.68590	0.454000	0.30748	TTA		0.517	PCBP2-027	NOVEL	NAGNAG_splice_site|non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407545.2	NM_005016		C	53848614	A	C	53848614	3	2	681	1	0	0	0	0	1	0	0	0	11503	359	13	5	32	5	PCBP2	12	53848614	Missense_Mutation	SNP	A	TCGA-IA-A83S-01A-11D-A34Z-10	3347987	53848614	80003281	75	37596											
PAN2	9924	hgsc.bcm.edu	37	12	56720418	56720418	+	Silent	SNP	G	G	A			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr12:56720418G>A	ENST00000425394.2	-	7	1621	c.1245C>T	c.(1243-1245)aaC>aaT	p.N415N	PAN2_ENST00000440411.3_Silent_p.N415N|PAN2_ENST00000257931.5_Silent_p.N415N|PAN2_ENST00000548043.1_Silent_p.N415N	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	CTGGAGCAGAGTTGGCAGCAG	0.577																																																0													43	38	40					12																	56720418		2203	4299	6502	SO:0001819	synonymous_variant	9924			AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"Ubiquitin-specific peptidases"	20074	protein-coding gene	gene with protein product	"PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"		"ubiquitin specific protease 52", "ubiquitin specific peptidase 52", "PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.1245C>T	chr12.hg19:g.56720418G>A				Silent	SNP	ENST00000425394.2	hg19	CCDS44922.1																																																																																				0.577	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409024.1	NM_014871		A	56720418	G	A	56720418	2	1	681	1	0	0	0	0	0	0	0	1	11416	1020	36	2		2	PAN2	12	56720418	Silent	SNP	G	TCGA-IA-A83S-01A-11D-A34Z-10	2871804	56720418	77131477	76	37597											
LRP1	4035	hgsc.bcm.edu	37	12	57548432	57548432	+	Missense_Mutation	SNP	A	A	G			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr12:57548432A>G	ENST00000243077.3	+	8	1641	c.1175A>G	c.(1174-1176)gAa>gGa	p.E392G	LRP1_ENST00000554174.1_Missense_Mutation_p.E392G	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	392					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)	GACTATATTGAAGTGGTGGAC	0.557																																																0													50	43	45					12																	57548432		2203	4297	6500	SO:0001583	missense	4035			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.1175A>G	chr12.hg19:g.57548432A>G	ENSP00000243077:p.Glu392Gly		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	hg19	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	A	13.71	2.319176	0.41096	.	.	ENSG00000123384	ENST00000243077;ENST00000554174	D;D	0.91124	-2.79;-2.79	4.53	4.53	0.55603	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000001	D	0.93145	0.7817	L	0.60455	1.87	0.49798	D	0.999829	D;B	0.71674	0.998;0.357	D;B	0.70227	0.968;0.108	D	0.92651	0.6133	10	0.45353	T	0.12	.	12.1491	0.54040	1.0:0.0:0.0:0.0	.	392;392	Q07954;Q6PJ72	LRP1_HUMAN;.	G	392	ENSP00000243077:E392G;ENSP00000451737:E392G	ENSP00000243077:E392G	E	+	2	0	LRP1	55834699	1.000000	0.71417	0.994000	0.49952	0.469000	0.32828	9.139000	0.94554	2.039000	0.60335	0.528000	0.53228	GAA		0.557	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		G	57548432	A	G	57548432	3	3	681	1	0	0	0	0	1	0	0	0	8953	246	9	3	1205	3	LRP1	12	57548432	Missense_Mutation	SNP	A	TCGA-IA-A83S-01A-11D-A34Z-10	828014	57548432	76303463	77	37598											
FAM19A2	338811	hgsc.bcm.edu	37	12	62148697	62148697	+	Missense_Mutation	SNP	C	C	T			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr12:62148697C>T	ENST00000416284.3	-	3	1799	c.215G>A	c.(214-216)gGg>gAg	p.G72E	FAM19A2_ENST00000551619.1_Missense_Mutation_p.G72E|FAM19A2_ENST00000551449.1_Intron|FAM19A2_ENST00000550003.1_5'UTR	NM_178539.4	NP_848634.1	Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A2	72						cytoplasm (GO:0005737)				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		TGCCACCTGCCCAGGGAAGCA	0.498																																																0													186	125	146					12																	62148697		2203	4300	6503	SO:0001583	missense	338811			AY325115	CCDS8962.1	12q14.1	2012-10-03			ENSG00000198673	ENSG00000198673			21589	protein-coding gene	gene with protein product						15028294	Standard	NM_178539		Approved	TAFA-2	uc001sqw.3	Q8N3H0	OTTHUMG00000170207	ENST00000416284.3:c.215G>A	chr12.hg19:g.62148697C>T	ENSP00000393987:p.Gly72Glu		B3KVV4|Q4G0R9|Q68DK0|Q6GTX6	Missense_Mutation	SNP	ENST00000416284.3	hg19	CCDS8962.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.730284	0.89390	.	.	ENSG00000198673	ENST00000416284;ENST00000551619;ENST00000552075;ENST00000549958;ENST00000548780	.	.	.	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	D	0.84120	0.5402	M	0.85542	2.76	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85714	0.1321	8	.	.	.	.	18.8508	0.92227	0.0:1.0:0.0:0.0	.	72	Q8N3H0	F19A2_HUMAN	E	72;72;73;79;73	.	.	G	-	2	0	FAM19A2	60434964	1.000000	0.71417	0.977000	0.42913	0.891000	0.51852	7.752000	0.85141	2.455000	0.83008	0.558000	0.71614	GGG		0.498	FAM19A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407967.2	NM_178539		T	62148697	C	T	62148697	3	4	681	1	0	0	0	0	1	0	0	0	5534	623	22	2	192	2	FAM19A2	12	62148697	Missense_Mutation	SNP	C	TCGA-IA-A83S-01A-11D-A34Z-10	4600265	62148697	71703198	78	37599											
TPTE2	93492	hgsc.bcm.edu	37	13	20048076	20048076	+	Missense_Mutation	SNP	G	G	C			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr13:20048076G>C	ENST00000400230.2	-	6	414	c.370C>G	c.(370-372)Ctt>Gtt	p.L124V	TPTE2_ENST00000382977.4_Missense_Mutation_p.L124V|TPTE2_ENST00000382975.4_Missense_Mutation_p.L124V|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000382978.1_Missense_Mutation_p.L124V|TPTE2_ENST00000255310.6_Missense_Mutation_p.L87V|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000390680.2_Missense_Mutation_p.L87V			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	124					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)		ACTCGAAGAAGAACATCCATG	0.358																																																0													36	41	39					13																	20048076		2198	4290	6488	SO:0001583	missense	93492			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.370C>G	chr13.hg19:g.20048076G>C	ENSP00000383089:p.Leu124Val		A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	hg19	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	g	11.47	1.647647	0.29246	.	.	ENSG00000132958	ENST00000382978;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000343548	D;D;D;D;D;D	0.98419	-4.45;-4.92;-4.45;-4.45;-4.92;-4.45	2.33	-0.47	0.12131	Ion transport (1);	0.079005	0.50627	U	0.000114	D	0.96697	0.8922	L	0.49513	1.565	0.26630	N	0.972498	P;P	0.47962	0.903;0.831	P;P	0.53722	0.487;0.733	D	0.92530	0.6032	9	.	.	.	-8.3239	4.9435	0.13978	0.5016:0.0:0.4984:0.0	.	87;124	Q6XPS3-3;Q6XPS3	.;TPTE2_HUMAN	V	124;124;87;87;124;124;124	ENSP00000372438:L124V;ENSP00000383089:L124V;ENSP00000255310:L87V;ENSP00000375098:L87V;ENSP00000372437:L124V;ENSP00000372435:L124V	.	L	-	1	0	TPTE2	18946076	0.997000	0.39634	0.042000	0.18584	0.096000	0.18686	0.842000	0.27627	-0.167000	0.10871	0.411000	0.27672	CTT		0.358	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		C	20048076	G	C	20048076	3	2	681	1	0	0	0	0	1	0	0	0	16436	942	33	4	1258	4	TPTE2	13	20048076	Missense_Mutation	SNP	G	TCGA-IA-A83S-01A-11D-A34Z-10		20048076	95121802	79	37600											
ATP7B	540	hgsc.bcm.edu	37	13	52513260	52513260	+	Missense_Mutation	SNP	A	A	G			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr13:52513260A>G	ENST00000242839.4	-	17	3782	c.3626T>C	c.(3625-3627)cTg>cCg	p.L1209P	ATP7B_ENST00000482841.1_5'Flank|ATP7B_ENST00000400370.3_Missense_Mutation_p.L779P|ATP7B_ENST00000417240.2_Missense_Mutation_p.L420P|ATP7B_ENST00000418097.2_Missense_Mutation_p.L1144P|ATP7B_ENST00000400366.3_Missense_Mutation_p.L1098P|ATP7B_ENST00000344297.5_Missense_Mutation_p.L1002P|ATP7B_ENST00000448424.2_Missense_Mutation_p.L1131P	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1209					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)	CATGCTCTGCAGCGTGTGCAC	0.582									Wilson disease																																							0													79	84	82					13																	52513260		2172	4271	6443	SO:0001583	missense	540	Familial Cancer Database		U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"ATPases / P-type"	870	protein-coding gene	gene with protein product	"Wilson disease", "copper pump 2", "copper-transporting ATPase 2"	606882	"ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.3626T>C	chr13.hg19:g.52513260A>G	ENSP00000242839:p.Leu1209Pro		Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Missense_Mutation	SNP	ENST00000242839.4	hg19	CCDS41892.1	.	.	.	.	.	.	.	.	.	.	A	18.39	3.613031	0.66672	.	.	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000344297;ENST00000417240;ENST00000448424;ENST00000400370;ENST00000418097	D;D;D;D;D;D;D	0.98531	-4.98;-4.98;-4.98;-4.98;-4.98;-4.98;-4.98	5.15	5.15	0.70609	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);	0.000000	0.85682	D	0.000000	D	0.99284	0.9750	H	0.96048	3.76	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	0.999;1.0;0.999;0.999;0.999;0.999;0.999;1.0	D	0.98821	1.0747	10	0.87932	D	0	-17.3007	15.1342	0.72549	1.0:0.0:0.0:0.0	.	1131;1161;1144;420;779;1098;1002;1209	E7ET55;B7ZLR4;F5H748;E7EQQ2;F5H562;P35670-3;P35670-2;P35670	.;.;.;.;.;.;.;ATP7B_HUMAN	P	1209;1098;1002;420;1131;779;1144	ENSP00000242839:L1209P;ENSP00000383217:L1098P;ENSP00000342559:L1002P;ENSP00000390360:L420P;ENSP00000416738:L1131P;ENSP00000383221:L779P;ENSP00000393343:L1144P	ENSP00000242839:L1209P	L	-	2	0	ATP7B	51411261	1.000000	0.71417	1.000000	0.80357	0.379000	0.30106	9.081000	0.94049	2.169000	0.68431	0.460000	0.39030	CTG		0.582	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053		G	52513260	A	G	52513260	3	3	681	1	0	0	0	0	1	0	0	0	1191	188	7	3	791	3	ATP7B	13	52513260	Missense_Mutation	SNP	A	TCGA-IA-A83S-01A-11D-A34Z-10	32465184	52513260	62656618	80	37601											
SLITRK1	114798	hgsc.bcm.edu	37	13	84455218	84455218	+	Missense_Mutation	SNP	A	A	G			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr13:84455218A>G	ENST00000377084.2	-	1	1310	c.425T>C	c.(424-426)tTa>tCa	p.L142S		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	142					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TATATCTCGTAATAAATTAAA	0.453																																																0													59	64	62					13																	84455218		2203	4300	6503	SO:0001583	missense	114798			AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"leucine rich repeat containing 12"	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.425T>C	chr13.hg19:g.84455218A>G	ENSP00000366288:p.Leu142Ser		Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	hg19	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	A	15.40	2.822760	0.50739	.	.	ENSG00000178235	ENST00000377084	T	0.66815	-0.23	4.45	4.45	0.53987	.	0.000000	0.64402	D	0.000004	D	0.85483	0.5707	H	0.94385	3.53	0.52099	D	0.999942	D	0.76494	0.999	D	0.77557	0.99	D	0.89217	0.3568	10	0.87932	D	0	-3.848	12.6952	0.56999	1.0:0.0:0.0:0.0	.	142	Q96PX8	SLIK1_HUMAN	S	142	ENSP00000366288:L142S	ENSP00000366288:L142S	L	-	2	0	SLITRK1	83353219	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.139000	0.94554	1.874000	0.54306	0.459000	0.35465	TTA		0.453	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		G	84455218	A	G	84455218	3	3	681	1	0	0	0	0	1	0	0	0	14748	372	13	3	1669	3	SLITRK1	13	84455218	Missense_Mutation	SNP	A	TCGA-IA-A83S-01A-11D-A34Z-10	31941958	84455218	30714660	81	37602											
SLC10A2	6555	hgsc.bcm.edu	37	13	103701721	103701721	+	Silent	SNP	A	A	G			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr13:103701721A>G	ENST00000245312.3	-	5	1433	c.837T>C	c.(835-837)acT>acC	p.T279T		NM_000452.2	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	279					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)	GCTCCTCAGGAGTGAAGGAGA	0.478																																																0													183	144	157					13																	103701721		2203	4300	6503	SO:0001819	synonymous_variant	6555			U10417	CCDS9506.1	13q33	2013-07-18	2013-07-18		ENSG00000125255	ENSG00000125255		"Solute carriers"	10906	protein-coding gene	gene with protein product		601295		ASBT, ISBT		8661017	Standard	NM_000452		Approved		uc001vpy.4	Q12908	OTTHUMG00000017313	ENST00000245312.3:c.837T>C	chr13.hg19:g.103701721A>G			A1L4F4|Q13839	Silent	SNP	ENST00000245312.3	hg19	CCDS9506.1																																																																																				0.478	SLC10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045716.1			G	103701721	A	G	103701721	2	3	681	1	0	0	0	0	0	0	0	1	14380	291	11	3		3	SLC10A2	13	103701721	Silent	SNP	A	TCGA-IA-A83S-01A-11D-A34Z-10	19246503	103701721	11468157	82	37603											
OR4K17	390436	hgsc.bcm.edu	37	14	20586055	20586055	+	Missense_Mutation	SNP	A	A	G			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr14:20586055A>G	ENST00000315543.4	+	1	490	c.490A>G	c.(490-492)Atg>Gtg	p.M164V		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	136						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(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)		CCTACACTACATGACCATCAT	0.443																																																0													206	172	183					14																	20586055		2203	4300	6503	SO:0001583	missense	390436				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.490A>G	chr14.hg19:g.20586055A>G	ENSP00000319197:p.Met164Val		Q6IF12	Missense_Mutation	SNP	ENST00000315543.4	hg19	CCDS32030.1	.	.	.	.	.	.	.	.	.	.	.	4.360	0.066302	0.08388	.	.	ENSG00000176230	ENST00000315543	T	0.19105	2.17	2.86	0.121	0.14695	GPCR, rhodopsin-like superfamily (1);	0.561138	0.13408	U	0.390079	T	0.11153	0.0272	N	0.21617	0.685	0.09310	N	0.999999	B	0.02656	0.0	B	0.06405	0.002	T	0.23976	-1.0173	10	0.38643	T	0.18	.	3.7424	0.08536	0.5547:0.1951:0.2502:0.0	.	136	Q8NGC6	OR4KH_HUMAN	V	164	ENSP00000319197:M164V	ENSP00000319197:M164V	M	+	1	0	OR4K17	19655895	0.000000	0.05858	0.834000	0.33040	0.839000	0.47603	-1.897000	0.01603	0.316000	0.23135	0.332000	0.21555	ATG		0.443	OR4K17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410346.1			G	20586055	A	G	20586055	3	3	681	1	0	0	0	0	1	0	0	0	11073	217	8	3	492	3	OR4K17	14	20586055	Missense_Mutation	SNP	A	TCGA-IA-A83S-01A-11D-A34Z-10		20586055	86763485	83	37604											
METTL3	56339	hgsc.bcm.edu	37	14	21967914	21967914	+	Missense_Mutation	SNP	A	A	C			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr14:21967914A>C	ENST00000298717.4	-	7	1488	c.1337T>G	c.(1336-1338)cTc>cGc	p.L446R		NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	446					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)		TTACCCCCAGAGATTTAGACA	0.383																																																0													161	149	153					14																	21967914		2203	4300	6503	SO:0001583	missense	56339			AF014837	CCDS32044.1	14q11.1	2012-06-12			ENSG00000165819	ENSG00000165819	2.1.1.62		17563	protein-coding gene	gene with protein product	"N6-adenosine-methyltransferase 70 kDa subunit"	612472					Standard	XM_006720206		Approved	Spo8, M6A, MT-A70	uc001wbc.3	Q86U44	OTTHUMG00000168825	ENST00000298717.4:c.1337T>G	chr14.hg19:g.21967914A>C	ENSP00000298717:p.Leu446Arg		O14736|Q86V05|Q9HB32	Missense_Mutation	SNP	ENST00000298717.4	hg19	CCDS32044.1	.	.	.	.	.	.	.	.	.	.	A	17.87	3.495927	0.64186	.	.	ENSG00000165819	ENST00000298717	T	0.38401	1.14	5.02	5.02	0.67125	.	0.064498	0.64402	D	0.000008	T	0.31513	0.0799	L	0.28274	0.84	0.80722	D	1	P	0.42248	0.774	B	0.44224	0.444	T	0.06534	-1.0821	10	0.40728	T	0.16	-9.7454	13.8626	0.63571	1.0:0.0:0.0:0.0	.	446	Q86U44	MTA70_HUMAN	R	446	ENSP00000298717:L446R	ENSP00000298717:L446R	L	-	2	0	METTL3	21037754	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	6.366000	0.73095	2.116000	0.64780	0.377000	0.23210	CTC		0.383	METTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401227.1	NM_019852		C	21967914	A	C	21967914	3	2	681	1	0	0	0	0	1	0	0	0	9503	304	11	5	425	5	METTL3	14	21967914	Missense_Mutation	SNP	A	TCGA-IA-A83S-01A-11D-A34Z-10	1381859	21967914	85381626	84	37605											
REM2	161253	hgsc.bcm.edu	37	14	23355339	23355339	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr14:23355339delC	ENST00000267396.4	+	4	749	c.626delC	c.(625-627)accfs	p.T209fs	REM2_ENST00000536884.1_Frame_Shift_Del_p.D184fs	NM_173527.2	NP_775798.2	Q8IYK8	REM2_HUMAN	RAS (RAD and GEM)-like GTP binding 2	209					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)		GTTCCAGAGACCCTACTTCGG	0.622																																																0													46	51	50					14																	23355339		1940	4134	6074	SO:0001589	frameshift_variant	161253				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.626delC	chr14.hg19:g.23355339delC	ENSP00000267396:p.Thr209fs		B7Z5P1|Q8N8R8	Frame_Shift_Del	DEL	ENST00000267396.4	hg19	CCDS45082.1																																																																																				0.622	REM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408290.1	NM_173527		-	23355339	C	-	23355339	7	5	681	1	0	1	0	1	0	0	0	0	13229	507	18	0	640	0	REM2	14	23355339	Frame_Shift_Del	DEL	C	TCGA-IA-A83S-01A-11D-A34Z-10	1387425	23355339	83994201	85	37606											
PCNX	22990	hgsc.bcm.edu	37	14	71524368	71524368	+	Silent	SNP	C	C	G			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr14:71524368C>G	ENST00000304743.2	+	26	5225	c.4779C>G	c.(4777-4779)ctC>ctG	p.L1593L	PCNX_ENST00000439984.3_Silent_p.L1482L|PCNX_ENST00000238570.5_Intron	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1593						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)		CTGACTATCTCAATGCATTAG	0.448																																																0													324	325	325					14																	71524368		2203	4300	6503	SO:0001819	synonymous_variant	22990			AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"pecanex-like 1 (Drosophila)"	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.4779C>G	chr14.hg19:g.71524368C>G			B2RTR6|O94897|Q96AI7|Q9Y2J9	Silent	SNP	ENST00000304743.2	hg19	CCDS9806.1																																																																																				0.448	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		G	71524368	C	G	71524368	2	3	681	1	0	0	0	0	0	0	0	1	11593	813	29	4		4	PCNX	14	71524368	Silent	SNP	C	TCGA-IA-A83S-01A-11D-A34Z-10	48169029	71524368	35825172	86	37607											
LTBP2	4053	hgsc.bcm.edu	37	14	74976904	74976904	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr14:74976904delC	ENST00000261978.4	-	20	3427	c.3041delG	c.(3040-3042)tgtfs	p.C1014fs	LTBP2_ENST00000556690.1_Frame_Shift_Del_p.C1014fs	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1014	Cys-rich.|EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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)		GGGAGTCAGACACTCATTCAC	0.577																																																0													81	73	75					14																	74976904		2203	4300	6503	SO:0001589	frameshift_variant	4053				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.3041delG	chr14.hg19:g.74976904delC	ENSP00000261978:p.Cys1014fs		Q99907|Q9NS51	Frame_Shift_Del	DEL	ENST00000261978.4	hg19	CCDS9831.1																																																																																				0.577	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		-	74976904	C	-	74976904	7	5	681	1	0	1	0	1	0	0	0	0	9076	478	17	0	2492	0	LTBP2	14	74976904	Frame_Shift_Del	DEL	C	TCGA-IA-A83S-01A-11D-A34Z-10	3452536	74976904	32372636	87	37608	286	2									
LTBP2	4053	hgsc.bcm.edu	37	14	74976906	74976906	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr14:74976906delC	ENST00000261978.4	-	20	3425	c.3039delG	c.(3037-3039)gagfs	p.E1013fs	LTBP2_ENST00000556690.1_Frame_Shift_Del_p.E1013fs	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1013	Cys-rich.|EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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)		GAGTCAGACACTCATTCACAT	0.582																																																0													80	72	75					14																	74976906		2203	4300	6503	SO:0001589	frameshift_variant	4053				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.3039delG	chr14.hg19:g.74976906delC	ENSP00000261978:p.Glu1013fs		Q99907|Q9NS51	Frame_Shift_Del	DEL	ENST00000261978.4	hg19	CCDS9831.1																																																																																				0.582	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		-	74976906	C	-	74976906	7	5	681	1	0	1	0	1	0	0	0	0	9076	564	20	0	2494	0	LTBP2	14	74976906	Frame_Shift_Del	DEL	C	TCGA-IA-A83S-01A-11D-A34Z-10	2	74976906	32372634	88	37609	286	2									
CPSF2	53981	hgsc.bcm.edu	37	14	92608527	92608527	+	Silent	SNP	T	T	A			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr14:92608527T>A	ENST00000298875.4	+	8	966	c.681T>A	c.(679-681)ctT>ctA	p.L227L		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	227					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)		TGGAAACACTTCGAGGTGATG	0.373																																					Ovarian(78;28 1788 18702 44111)											0													162	148	153					14																	92608527		2203	4300	6503	SO:0001819	synonymous_variant	53981			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.681T>A	chr14.hg19:g.92608527T>A			B3KME1|Q6NSJ1|Q9H3W7	Silent	SNP	ENST00000298875.4	hg19	CCDS9902.1																																																																																				0.373	CPSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412123.1			A	92608527	T	A	92608527	2	1	681	1	0	0	0	0	0	0	0	1	3827	1770	62	5		5	CPSF2	14	92608527	Silent	SNP	T	TCGA-IA-A83S-01A-11D-A34Z-10	17631621	92608527	14741013	89	37610											
USP3	9960	hgsc.bcm.edu	37	15	63866572	63866572	+	Missense_Mutation	SNP	C	C	A			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr15:63866572C>A	ENST00000380324.3	+	11	1195	c.1066C>A	c.(1066-1068)Caa>Aaa	p.Q356K	USP3_ENST00000536001.1_3'UTR|USP3-AS1_ENST00000560350.1_RNA|USP3_ENST00000559711.1_Missense_Mutation_p.Q267K|USP3_ENST00000539772.1_Missense_Mutation_p.Q107K|USP3_ENST00000540797.1_Missense_Mutation_p.Q312K|USP3-AS1_ENST00000559357.1_RNA|USP3-AS1_ENST00000559861.1_RNA|USP3_ENST00000558285.1_Missense_Mutation_p.Q339K|USP3_ENST00000268049.7_Missense_Mutation_p.Q334K	NM_006537.3	NP_006528.2	Q9Y6I4	UBP3_HUMAN	ubiquitin specific peptidase 3	356	USP.				DNA repair (GO:0006281)|histone deubiquitination (GO:0016578)|mitotic cell cycle (GO:0000278)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	nuclear chromatin (GO:0000790)	histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(7)|lung(4)	14				GBM - Glioblastoma multiforme(80;0.0187)		CTCTAAGAATCAAGAAAATGG	0.323																																																0													102	100	100					15																	63866572		2203	4300	6503	SO:0001583	missense	9960			AF073344	CCDS32265.1, CCDS58370.1	15q22.3	2008-04-11	2005-08-08			ENSG00000140455		"Ubiquitin-specific peptidases"	12626	protein-coding gene	gene with protein product		604728	"ubiquitin specific protease 3"			12838346	Standard	NM_006537		Approved		uc002amf.4	Q9Y6I4		ENST00000380324.3:c.1066C>A	chr15.hg19:g.63866572C>A	ENSP00000369681:p.Gln356Lys		B4DVU5|F5H1A6|Q8WVD0	Missense_Mutation	SNP	ENST00000380324.3	hg19	CCDS32265.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.644326	0.67244	.	.	ENSG00000140455	ENST00000540797;ENST00000380324;ENST00000268049;ENST00000539772;ENST00000536848;ENST00000538686	T;T;T;T	0.28454	2.12;2.23;2.33;1.61	5.98	5.98	0.97165	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.31734	0.0806	L	0.50333	1.59	0.58432	D	0.999999	B;B;B;B	0.26041	0.056;0.069;0.14;0.14	B;B;B;B	0.31869	0.046;0.053;0.137;0.137	T	0.16928	-1.0386	10	0.02654	T	1	.	20.452	0.99131	0.0:1.0:0.0:0.0	.	312;312;334;356	F5H1A6;B4DVU5;Q6JHV3;Q9Y6I4	.;.;.;UBP3_HUMAN	K	312;356;334;107;271;187	ENSP00000445828:Q312K;ENSP00000369681:Q356K;ENSP00000268049:Q334K;ENSP00000445642:Q107K	ENSP00000268049:Q334K	Q	+	1	0	USP3	61653625	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.838000	0.97847	0.591000	0.81541	CAA		0.323	USP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417773.1			A	63866572	C	A	63866572	3	1	681	1	0	0	0	0	1	0	0	0	17065	827	29	4	1108	4	USP3	15	63866572	Missense_Mutation	SNP	C	TCGA-IA-A83S-01A-11D-A34Z-10		63866572	38664820	90	37611											
THSD4	79875	hgsc.bcm.edu	37	15	72030175	72030175	+	Missense_Mutation	SNP	G	G	A			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr15:72030175G>A	ENST00000355327.3	+	11	1869	c.1735G>A	c.(1735-1737)Gag>Aag	p.E579K	THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000357769.4_Missense_Mutation_p.E219K|THSD4_ENST00000261862.6_Missense_Mutation_p.E579K			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	579					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						GGAGGCCCCTGAGATGTTCAC	0.582																																																0													141	180	167					15																	72030175		2062	4187	6249	SO:0001583	missense	79875			AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.1735G>A	chr15.hg19:g.72030175G>A	ENSP00000347484:p.Glu579Lys		B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Missense_Mutation	SNP	ENST00000355327.3	hg19	CCDS10238.2	.	.	.	.	.	.	.	.	.	.	G	5.140	0.211483	0.09757	.	.	ENSG00000187720	ENST00000355327;ENST00000261862;ENST00000357769	T;T;T	0.61158	0.13;0.13;0.4	5.31	4.39	0.52855	.	.	.	.	.	T	0.33352	0.0860	N	0.24115	0.695	0.09310	N	1	P;B;B	0.35328	0.495;0.008;0.091	B;B;B	0.22753	0.041;0.001;0.024	T	0.14531	-1.0469	9	0.06365	T	0.9	.	9.5486	0.39295	0.0966:0.0:0.9034:0.0	.	219;219;579	B4E1J6;B4DR13;Q6ZMP0	.;.;THSD4_HUMAN	K	579;579;219	ENSP00000347484:E579K;ENSP00000261862:E579K;ENSP00000350413:E219K	ENSP00000261862:E579K	E	+	1	0	THSD4	69817229	0.989000	0.36119	0.005000	0.12908	0.004000	0.04260	2.904000	0.48719	1.230000	0.43646	0.650000	0.86243	GAG		0.582	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257253.2	NM_024817		A	72030175	G	A	72030175	3	1	681	1	0	0	0	0	1	0	0	0	15883	1291	45	2	1773	2	THSD4	15	72030175	Missense_Mutation	SNP	G	TCGA-IA-A83S-01A-11D-A34Z-10	8163603	72030175	30501217	91	37612											
SCAMP2	10066	hgsc.bcm.edu	37	15	75146985	75146985	+	Silent	SNP	G	G	T			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr15:75146985G>T	ENST00000268099.9	-	2	172	c.63C>A	c.(61-63)ccC>ccA	p.P21P		NM_005697.3	NP_005688.2	O15127	SCAM2_HUMAN	secretory carrier membrane protein 2	21					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|recycling endosome membrane (GO:0055038)|trans-Golgi network membrane (GO:0032588)|transport vesicle (GO:0030133)				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	9						GGGTCACAGAGGGATCCTGAG	0.627																																																0													32	41	38					15																	75146985		2197	4295	6492	SO:0001819	synonymous_variant	10066			AF005038	CCDS10271.1	15q23-q25	2013-02-21			ENSG00000140497	ENSG00000140497		"Secretory carrier membrane proteins"	10564	protein-coding gene	gene with protein product		606912				9378760	Standard	NM_005697		Approved		uc002azb.1	O15127	OTTHUMG00000142817	ENST00000268099.9:c.63C>A	chr15.hg19:g.75146985G>T			B2RDF0|Q9BQE8	Silent	SNP	ENST00000268099.9	hg19	CCDS10271.1																																																																																				0.627	SCAMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286403.3	NM_005697		T	75146985	G	T	75146985	2	4	681	1	0	0	0	0	0	0	0	1	13877	987	35	4		4	SCAMP2	15	75146985	Silent	SNP	G	TCGA-IA-A83S-01A-11D-A34Z-10	3116810	75146985	27384407	92	37613											
ITGAM	3684	hgsc.bcm.edu	37	16	31341675	31341675	+	Missense_Mutation	SNP	T	T	A			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr16:31341675T>A	ENST00000287497.8	+	27	3182	c.3107T>A	c.(3106-3108)tTc>tAc	p.F1036Y	ITGAM_ENST00000544665.3_Missense_Mutation_p.F1037Y			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	1036					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						GACATCCCGTTCTTTGGCATC	0.567																																																0													97	96	96					16																	31341675		2027	4194	6221	SO:0001583	missense	3684			J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"CD molecules", "Complement system", "Integrins"	6149	protein-coding gene	gene with protein product		120980	"integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.3107T>A	chr16.hg19:g.31341675T>A	ENSP00000287497:p.Phe1036Tyr		Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	ENST00000287497.8	hg19	CCDS45470.1	.	.	.	.	.	.	.	.	.	.	T	17.56	3.419955	0.62622	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	T;T	0.47869	0.83;0.83	5.51	1.04	0.20106	.	.	.	.	.	T	0.26702	0.0653	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.19031	-1.0318	9	0.56958	D	0.05	.	4.1662	0.10308	0.1547:0.5648:0.0:0.2805	.	1036;1036	Q4VAK1;P11215	.;ITAM_HUMAN	Y	1037;1036	ENSP00000441691:F1037Y;ENSP00000287497:F1036Y	ENSP00000287497:F1036Y	F	+	2	0	ITGAM	31249176	0.023000	0.18921	0.023000	0.16930	0.960000	0.62799	-0.047000	0.11963	0.216000	0.20781	0.372000	0.22366	TTC		0.567	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		A	31341675	T	A	31341675	3	1	681	1	0	0	0	0	1	0	0	0	7889	1783	62	5	3216	5	ITGAM	16	31341675	Missense_Mutation	SNP	T	TCGA-IA-A83S-01A-11D-A34Z-10		31341675	59013078	93	37614											
ESRP2	80004	hgsc.bcm.edu	37	16	68267898	68267898	+	Splice_Site	DEL	T	T	-			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr16:68267898delT	ENST00000565858.1	-	3	526	c.440delA	c.(439-441)aag>ag	p.K147fs	ESRP2_ENST00000473183.2_Splice_Site_p.K147fs|RP11-96D1.6_ENST00000564147.1_RNA	NM_024939.2	NP_079215.2	Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	147					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)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						GGAGCATACCTTCCTGGAGGC	0.622																																																0													46	46	46					16																	68267898		2198	4300	6498	SO:0001630	splice_region_variant	80004			AK025571	CCDS10863.1	16q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000103067	ENSG00000103067		"RNA binding motif (RRM) containing"	26152	protein-coding gene	gene with protein product		612960	"RNA binding motif protein 35B"	RBM35B		12477932	Standard	NM_024939		Approved	FLJ21918	uc002evq.1	Q9H6T0	OTTHUMG00000137557	ENST00000565858.1:c.441+1A>-	chr16.hg19:g.68267898delT			Q8N6H8|Q8WZ15|Q9H6I4	Frame_Shift_Del	DEL	ENST00000565858.1	hg19																																																																																					0.622	ESRP2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000433083.1	NM_024939	Frame_Shift_Del	-	68267898	T	-	68267898	8	5	681	1	0	1	0	1	0	0	1	0	5261	1623	56	0	1765	0	ESRP2	16	68267898	Splice_Site	DEL	T	TCGA-IA-A83S-01A-11D-A34Z-10	36926223	68267898	22086855	94	37615											
GLG1	2734	hgsc.bcm.edu	37	16	74487150	74487150	+	Missense_Mutation	SNP	C	C	T			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr16:74487150C>T	ENST00000422840.2	-	26	3454	c.3455G>A	c.(3454-3456)aGt>aAt	p.S1152N	GLG1_ENST00000205061.5_Missense_Mutation_p.S1152N|GLG1_ENST00000447066.2_Missense_Mutation_p.S1141N	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	1152					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						GATGCTCCCACTGATCACAGA	0.502																																																0													242	202	216					16																	74487150		2198	4300	6498	SO:0001583	missense	2734				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.3455G>A	chr16.hg19:g.74487150C>T	ENSP00000405984:p.Ser1152Asn		B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Missense_Mutation	SNP	ENST00000422840.2	hg19	CCDS45527.1	.	.	.	.	.	.	.	.	.	.	C	9.147	1.015288	0.19355	.	.	ENSG00000090863	ENST00000205061;ENST00000447066;ENST00000422840	.	.	.	5.54	3.53	0.40419	.	0.247900	0.47093	D	0.000242	T	0.15869	0.0382	N	0.08118	0	0.22693	N	0.998846	B;B;B;B	0.21520	0.0;0.057;0.0;0.0	B;B;B;B	0.18871	0.0;0.023;0.0;0.0	T	0.12426	-1.0548	9	0.26408	T	0.33	-17.7364	5.7869	0.18338	0.1097:0.6149:0.1891:0.0863	.	282;1152;1152;1141	Q6ZMF1;Q92896;Q92896-2;B7Z8Y4	.;GSLG1_HUMAN;.;.	N	1152;1141;1152	.	ENSP00000205061:S1152N	S	-	2	0	GLG1	73044651	0.946000	0.32159	0.986000	0.45419	0.757000	0.42996	1.676000	0.37565	1.339000	0.45563	-0.346000	0.07831	AGT		0.502	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435750.1	NM_012201		T	74487150	C	T	74487150	3	4	681	1	0	0	0	0	1	0	0	0	6438	565	20	2	168	2	GLG1	16	74487150	Missense_Mutation	SNP	C	TCGA-IA-A83S-01A-11D-A34Z-10	6219252	74487150	15867603	95	37616											
CENPN	55839	hgsc.bcm.edu	37	16	81060147	81060147	+	Missense_Mutation	SNP	T	T	G			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr16:81060147T>G	ENST00000305850.5	+	9	1504	c.714T>G	c.(712-714)atT>atG	p.I238M	RP11-303E16.3_ENST00000561808.1_RNA|CENPN_ENST00000439957.3_Missense_Mutation_p.I218M|RP11-303E16.3_ENST00000566390.1_RNA|RP11-303E16.3_ENST00000562315.1_RNA|CENPN_ENST00000428963.2_Missense_Mutation_p.I204M|CENPN_ENST00000393335.3_Missense_Mutation_p.I238M	NM_001100624.2|NM_001270474.1	NP_001094094.2|NP_001257403.1	Q96H22	CENPN_HUMAN	centromere protein N	238					CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|large_intestine(5)|lung(4)	10						CAAGGATCATTCATGAAAACA	0.343																																																0													88	84	85					16																	81060147		1815	4073	5888	SO:0001583	missense	55839			AK026313	CCDS10931.1, CCDS42199.1, CCDS42200.1, CCDS58482.1, CCDS58483.1	16q23.2	2013-11-05	2006-06-15	2006-06-15	ENSG00000166451	ENSG00000166451			30873	protein-coding gene	gene with protein product		611509	"chromosome 16 open reading frame 60"	C16orf60		16622419	Standard	NM_001100625		Approved	FLJ13607, FLJ22660, BM039	uc002ffy.4	Q96H22	OTTHUMG00000137628	ENST00000305850.5:c.714T>G	chr16.hg19:g.81060147T>G	ENSP00000305608:p.Ile238Met		A8MZE6|B3KN53|B4DJD1|B4DPY7|C9JJM5|D3DUK8|E7ES30|E7ETS3|Q9NZ83	Missense_Mutation	SNP	ENST00000305850.5	hg19	CCDS42200.1	.	.	.	.	.	.	.	.	.	.	T	12.36	1.915992	0.33815	.	.	ENSG00000166451	ENST00000305850;ENST00000439957;ENST00000393335;ENST00000428963	T;T;T;T	0.22539	1.95;1.95;1.95;1.95	5.25	2.99	0.34606	.	0.607838	0.18923	N	0.127436	T	0.28333	0.0700	L	0.57536	1.79	0.22142	N	0.999337	P;P;P;P	0.51147	0.627;0.681;0.942;0.681	P;P;P;P	0.52309	0.5;0.581;0.695;0.581	T	0.08186	-1.0734	10	0.41790	T	0.15	-9.6647	7.0343	0.24985	0.1146:0.131:0.0:0.7544	.	218;204;238;238	E7ETS3;E7ES30;A8MZE6;Q96H22	.;.;.;CENPN_HUMAN	M	238;218;238;204	ENSP00000305608:I238M;ENSP00000395235:I218M;ENSP00000377007:I238M;ENSP00000393991:I204M	ENSP00000305608:I238M	I	+	3	3	CENPN	79617648	1.000000	0.71417	0.998000	0.56505	0.691000	0.40173	0.720000	0.25896	0.156000	0.19299	-1.967000	0.00467	ATT		0.343	CENPN-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269051.1	NM_018455		G	81060147	T	G	81060147	3	3	681	1	0	0	0	0	1	0	0	0	3240	1771	62	5	832	5	CENPN	16	81060147	Missense_Mutation	SNP	T	TCGA-IA-A83S-01A-11D-A34Z-10	6572997	81060147	9294606	96	37617											
SHPK	23729	hgsc.bcm.edu	37	17	3526658	3526658	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr17:3526658G>A	ENST00000225519.3	-	4	724	c.622C>T	c.(622-624)Cag>Tag	p.Q208*		NM_013276.2	NP_037408	Q9UHJ6	SHPK_HUMAN	sedoheptulokinase	208					carbohydrate metabolic process (GO:0005975)|cellular response to interleukin-13 (GO:0035963)|cellular response to interleukin-4 (GO:0071353)|cellular response to lipopolysaccharide (GO:0071222)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|phosphorylation (GO:0016310)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|sedoheptulokinase activity (GO:0050277)			breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				COAD - Colon adenocarcinoma(5;0.0828)		CTTTGGCTCTGCGTGTTGAAA	0.562																																																0													167	150	156					17																	3526658		2203	4300	6503	SO:0001587	stop_gained	23729			AF163573	CCDS11030.1	17p13	2008-02-08	2008-02-08	2008-02-08	ENSG00000197417	ENSG00000197417	2.7.1.14		1492	protein-coding gene	gene with protein product		605060	"carbohydrate kinase-like"	CARKL		10673275, 18186520	Standard	NM_013276		Approved	SHK	uc002fvz.1	Q9UHJ6	OTTHUMG00000090694	ENST00000225519.3:c.622C>T	chr17.hg19:g.3526658G>A	ENSP00000225519:p.Gln208*		B2R640|Q8WUH3	Nonsense_Mutation	SNP	ENST00000225519.3	hg19	CCDS11030.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.885948	0.91814	.	.	ENSG00000197417	ENST00000225519	.	.	.	5.15	0.667	0.17907	.	0.788742	0.11854	N	0.523030	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	-0.7028	4.2396	0.10642	0.0832:0.1092:0.4512:0.3564	.	.	.	.	X	208	.	ENSP00000225519:Q208X	Q	-	1	0	SHPK	3473407	0.281000	0.24258	0.676000	0.29932	0.912000	0.54170	1.047000	0.30367	0.656000	0.30886	0.561000	0.74099	CAG		0.562	SHPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207378.2			A	3526658	G	A	3526658	4	1	681	1	0	0	0	0	0	1	0	0	14296	1328	46	2	830	2	SHPK	17	3526658	Nonsense_Mutation	SNP	G	TCGA-IA-A83S-01A-11D-A34Z-10		3526658	77668552	97	37618											
USP6	9098	hgsc.bcm.edu	37	17	5071273	5071273	+	Missense_Mutation	SNP	C	C	T			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr17:5071273C>T	ENST00000574788.1	+	34	5313	c.3083C>T	c.(3082-3084)gCc>gTc	p.A1028V	USP6_ENST00000304328.5_Missense_Mutation_p.A711V|USP6_ENST00000250066.6_Missense_Mutation_p.A1028V|USP6_ENST00000332776.4_3'UTR			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	1028	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						CGAGCGCAAGCCGAGCCCATC	0.532			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts																																		Dom	yes		17	17p13	9098	ubiquitin specific peptidase 6 (Tre-2 oncogene)		M	0													59	58	58					17																	5071273		2203	4300	6503	SO:0001583	missense	9098			X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"Ubiquitin-specific peptidases"	12629	protein-coding gene	gene with protein product	"ubiquitin carboxyl-terminal hydrolase 6", "TBC1D3 and USP32 fusion", "Tre-2 oncogene"	604334	"ubiquitin specific protease 6 (Tre-2 oncogene)", "TRE oncogene, Smith Magenis syndrome chromosome region", "ubiquitin specific peptidase 6 (Tre-2 oncogene)"	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.3083C>T	chr17.hg19:g.5071273C>T	ENSP00000460380:p.Ala1028Val		Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	ENST00000574788.1	hg19	CCDS11069.2	.	.	.	.	.	.	.	.	.	.	C	14.85	2.657489	0.47467	.	.	ENSG00000129204	ENST00000250066;ENST00000304328	T;T	0.14391	2.9;2.51	2.35	2.35	0.29111	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.26412	0.0645	L	0.46741	1.465	0.48632	D	0.999683	D;D	0.71674	0.998;0.987	D;D	0.80764	0.994;0.939	T	0.01617	-1.1311	10	0.59425	D	0.04	.	10.4068	0.44266	0.0:1.0:0.0:0.0	.	711;1028	P35125-2;P35125	.;UBP6_HUMAN	V	1028;711	ENSP00000250066:A1028V;ENSP00000305473:A711V	ENSP00000250066:A1028V	A	+	2	0	USP6	5011997	1.000000	0.71417	0.998000	0.56505	0.338000	0.28826	7.512000	0.81728	1.313000	0.45069	0.184000	0.17185	GCC		0.532	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505		T	5071273	C	T	5071273	3	4	681	1	0	0	0	0	1	0	0	0	17091	739	26	2	3181	2	USP6	17	5071273	Missense_Mutation	SNP	C	TCGA-IA-A83S-01A-11D-A34Z-10	1544615	5071273	76123937	98	37619											
ALOX12	239	hgsc.bcm.edu	37	17	6899465	6899465	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr17:6899465delC	ENST00000251535.6	+	1	82	c.29delC	c.(28-30)accfs	p.T10fs	AC027763.2_ENST00000399541.2_Intron|RP11-589P10.7_ENST00000572547.1_RNA|RP11-589P10.5_ENST00000573222.1_lincRNA	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	10	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				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						CGCGTGGCCACCGGGGCCTGG	0.756																																																0													4	4	4					17																	6899465		1668	3237	4905	SO:0001589	frameshift_variant	239			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.29delC	chr17.hg19:g.6899465delC	ENSP00000251535:p.Thr10fs		O95569|Q6ISF8|Q9UQM4	Frame_Shift_Del	DEL	ENST00000251535.6	hg19	CCDS11084.1																																																																																				0.756	ALOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219922.2			-	6899465	C	-	6899465	7	5	681	1	0	1	0	1	0	0	0	0	536	507	18	0	31	0	ALOX12	17	6899465	Frame_Shift_Del	DEL	C	TCGA-IA-A83S-01A-11D-A34Z-10	1828192	6899465	74295745	99	37620											
DLG4	1742	hgsc.bcm.edu	37	17	7106870	7106870	+	Silent	SNP	G	G	A			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr17:7106870G>A	ENST00000399506.2	-	6	569	c.378C>T	c.(376-378)cgC>cgT	p.R126R	DLG4_ENST00000302955.6_Silent_p.R123R|DLG4_ENST00000399510.2_Silent_p.R169R|DLG4_ENST00000485100.1_Silent_p.R123R			P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	126	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|axon guidance (GO:0007411)|dendritic spine morphogenesis (GO:0060997)|establishment of protein localization (GO:0045184)|learning (GO:0007612)|locomotory exploration behavior (GO:0035641)|negative regulation of receptor internalization (GO:0002091)|nervous system development (GO:0007399)|neuromuscular process controlling balance (GO:0050885)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synaptic transmission (GO:0050806)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|receptor localization to synapse (GO:0097120)|regulation of grooming behavior (GO:2000821)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vocalization behavior (GO:0071625)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|juxtaparanode region of axon (GO:0044224)|neuron projection terminus (GO:0044306)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	acetylcholine receptor binding (GO:0033130)|beta-1 adrenergic receptor binding (GO:0031697)|D1 dopamine receptor binding (GO:0031748)|ionotropic glutamate receptor binding (GO:0035255)|P2Y1 nucleotide receptor binding (GO:0031812)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein phosphatase binding (GO:0019903)|scaffold protein binding (GO:0097110)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18					Guanidine(DB00536)	GGGTCACCTCGCGCACGTCCA	0.622																																																0													35	40	39					17																	7106870		2056	4183	6239	SO:0001819	synonymous_variant	1742			U83192	CCDS45599.1, CCDS45600.1	17p13.1	2008-12-15	2001-12-04		ENSG00000132535	ENSG00000132535			2903	protein-coding gene	gene with protein product		602887				9286702	Standard	NM_001128827		Approved	PSD-95, PSD95, SAP90, SAP-90	uc010cly.3	P78352	OTTHUMG00000134327	ENST00000399506.2:c.378C>T	chr17.hg19:g.7106870G>A			B7Z1S1|G5E939|Q92941|Q9UKK8	Silent	SNP	ENST00000399506.2	hg19																																																																																					0.622	DLG4-002	KNOWN	non_canonical_TEC|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000259419.2	NM_001365		A	7106870	G	A	7106870	2	1	681	1	0	0	0	0	0	0	0	1	4559	1074	38	1		1	DLG4	17	7106870	Silent	SNP	G	TCGA-IA-A83S-01A-11D-A34Z-10	207405	7106870	74088340	100	37621											
RAI1	10743	hgsc.bcm.edu	37	17	17697241	17697241	+	Missense_Mutation	SNP	G	G	T			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr17:17697241G>T	ENST00000353383.1	+	3	1448	c.979G>T	c.(979-981)Gcc>Tcc	p.A327S	RAI1_ENST00000261641.6_Missense_Mutation_p.A327S	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	327	Gln-rich.				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)		GCCGGACGCAGCCGTCCGGAC	0.642																																																0													60	75	70					17																	17697241		2203	4300	6503	SO:0001583	missense	10743			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.979G>T	chr17.hg19:g.17697241G>T	ENSP00000323074:p.Ala327Ser		Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	ENST00000353383.1	hg19	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	G	4.494	0.091621	0.08632	.	.	ENSG00000108557	ENST00000353383;ENST00000395774;ENST00000395776;ENST00000355970;ENST00000261641;ENST00000315321	T;T;T	0.25414	1.8;1.8;1.8	5.55	2.35	0.29111	.	0.294557	0.33753	N	0.004581	T	0.14485	0.0350	N	0.19112	0.55	0.24098	N	0.995885	B	0.14012	0.009	B	0.14023	0.01	T	0.16928	-1.0386	10	0.51188	T	0.08	.	6.7903	0.23695	0.1908:0.3483:0.4608:0.0	.	327	Q7Z5J4	RAI1_HUMAN	S	327;327;327;327;327;304	ENSP00000323074:A327S;ENSP00000379120:A327S;ENSP00000261641:A327S	ENSP00000261641:A327S	A	+	1	0	RAI1	17637966	0.127000	0.22367	0.027000	0.17364	0.221000	0.24807	0.574000	0.23714	0.711000	0.32018	0.561000	0.74099	GCC		0.642	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		T	17697241	G	T	17697241	3	4	681	1	0	0	0	0	1	0	0	0	13013	971	34	4	981	4	RAI1	17	17697241	Missense_Mutation	SNP	G	TCGA-IA-A83S-01A-11D-A34Z-10	10590371	17697241	63497969	101	37622											
ALDH3A2	224	hgsc.bcm.edu	37	17	19564524	19564524	+	Missense_Mutation	SNP	C	C	A			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr17:19564524C>A	ENST00000176643.6	+	6	1329	c.883C>A	c.(883-885)Ctt>Att	p.L295I	ALDH3A2_ENST00000581518.1_Missense_Mutation_p.L295I|ALDH3A2_ENST00000579855.1_Missense_Mutation_p.L295I|SNORA31_ENST00000516540.1_RNA|ALDH3A2_ENST00000571163.1_5'Flank|ALDH3A2_ENST00000395575.2_Missense_Mutation_p.L295I|ALDH3A2_ENST00000339618.4_Missense_Mutation_p.L295I			P51648	AL3A2_HUMAN	aldehyde dehydrogenase 3 family, member A2	295					cellular aldehyde metabolic process (GO:0006081)|central nervous system development (GO:0007417)|epidermis development (GO:0008544)|oxidation-reduction process (GO:0055114)|peripheral nervous system development (GO:0007422)|phytol metabolic process (GO:0033306)|sesquiterpenoid metabolic process (GO:0006714)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)|peroxisome (GO:0005777)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|long-chain-alcohol oxidase activity (GO:0046577)|long-chain-aldehyde dehydrogenase activity (GO:0050061)|medium-chain-aldehyde dehydrogenase activity (GO:0052814)			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1)	13	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)					ACTAAGTTTGCTTGAAGGACA	0.368																																																0													84	79	80					17																	19564524		2203	4300	6503	SO:0001583	missense	224			L47162	CCDS11210.1, CCDS32589.1	17p11.2	2010-05-07			ENSG00000072210	ENSG00000072210	1.2.1.3	"Aldehyde dehydrogenases"	403	protein-coding gene	gene with protein product	"fatty aldehyde dehydrogenase"	609523		SLS, ALDH10		7894487	Standard	NM_000382		Approved	FALDH	uc002gwa.1	P51648	OTTHUMG00000059471	ENST00000176643.6:c.883C>A	chr17.hg19:g.19564524C>A	ENSP00000176643:p.Leu295Ile		Q6I9T3|Q93011|Q96J37	Missense_Mutation	SNP	ENST00000176643.6	hg19	CCDS11210.1	.	.	.	.	.	.	.	.	.	.	C	12.11	1.839363	0.32513	.	.	ENSG00000072210	ENST00000176643;ENST00000395575;ENST00000339618	T;T;T	0.73681	-0.77;-0.77;-0.77	5.91	5.91	0.95273	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.044427	0.85682	D	0.000000	T	0.68320	0.2988	L	0.45051	1.395	0.80722	D	1	B;B	0.16603	0.018;0.014	B;B	0.26969	0.074;0.075	T	0.61312	-0.7088	10	0.26408	T	0.33	-23.027	14.1492	0.65370	0.1497:0.8503:0.0:0.0	.	295;295	P51648;P51648-2	AL3A2_HUMAN;.	I	295	ENSP00000176643:L295I;ENSP00000378942:L295I;ENSP00000345774:L295I	ENSP00000176643:L295I	L	+	1	0	ALDH3A2	19505116	0.959000	0.32827	1.000000	0.80357	0.978000	0.69477	0.014000	0.13333	2.803000	0.96430	0.650000	0.86243	CTT		0.368	ALDH3A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132268.1			A	19564524	C	A	19564524	3	1	681	1	0	0	0	0	1	0	0	0	498	797	28	4	905	4	ALDH3A2	17	19564524	Missense_Mutation	SNP	C	TCGA-IA-A83S-01A-11D-A34Z-10	1867283	19564524	61630686	102	37623											
ATP6V0A1	535	hgsc.bcm.edu	37	17	40647714	40647714	+	Missense_Mutation	SNP	T	T	C			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr17:40647714T>C	ENST00000343619.4	+	14	1663	c.1540T>C	c.(1540-1542)Tac>Cac	p.Y514H	ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.Y471H|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.Y521H|RP11-194N12.2_ENST00000591343.1_RNA|ATP6V0A1_ENST00000544137.1_Missense_Mutation_p.Y160H|MIR548AT_ENST00000578714.1_RNA|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.Y514H|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.Y514H|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.Y471H	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	514					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		TGGTGGACCATACCCTTTTGG	0.433																																																0													84	66	72					17																	40647714		2203	4300	6503	SO:0001583	missense	535			U73006	CCDS11426.1, CCDS45683.1, CCDS45684.1	17q21	2010-04-21	2006-01-20	2002-05-10	ENSG00000033627	ENSG00000033627		"ATPases / V-type"	865	protein-coding gene	gene with protein product		192130	"ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD)", "ATPase, H+ transporting, lysosomal V0 subunit a isoform 1", "ATPase, H+ transporting, lysosomal V0 subunit A1"	VPP1, ATP6N1, ATP6N1A		7774924	Standard	NM_001130020		Approved	a1, Vph1, Stv1	uc002hzs.3	Q93050		ENST00000343619.4:c.1540T>C	chr17.hg19:g.40647714T>C	ENSP00000342951:p.Tyr514His		B7Z3B7|Q8N5G7|Q9NSX0	Missense_Mutation	SNP	ENST00000343619.4	hg19	CCDS45684.1	.	.	.	.	.	.	.	.	.	.	T	33	5.195566	0.94960	.	.	ENSG00000033627	ENST00000343619;ENST00000546249;ENST00000393829;ENST00000264649;ENST00000537728;ENST00000544137	D;D;D;D;D;D	0.91407	-2.84;-2.84;-2.84;-2.84;-2.84;-2.84	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.97340	0.9130	H	0.98218	4.175	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.997;0.999	D;D;D;D;D	0.91635	0.996;0.999;0.999;0.966;0.994	D	0.98763	1.0725	10	0.87932	D	0	-21.8156	16.6288	0.85011	0.0:0.0:0.0:1.0	.	471;471;521;514;514	B7Z641;B7Z2A9;B7Z3B7;Q93050;Q93050-1	.;.;.;VPP1_HUMAN;.	H	514;514;514;521;471;160	ENSP00000342951:Y514H;ENSP00000444676:Y514H;ENSP00000377415:Y514H;ENSP00000264649:Y521H;ENSP00000443991:Y471H;ENSP00000446377:Y160H	ENSP00000264649:Y521H	Y	+	1	0	ATP6V0A1	37901240	1.000000	0.71417	0.982000	0.44146	0.974000	0.67602	8.012000	0.88631	2.326000	0.78906	0.533000	0.62120	TAC		0.433	ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450364.1	NM_001130020		C	40647714	T	C	40647714	3	2	681	1	0	0	0	0	1	0	0	0	1168	1406	49	3	1611	3	ATP6V0A1	17	40647714	Missense_Mutation	SNP	T	TCGA-IA-A83S-01A-11D-A34Z-10	21083190	40647714	40547496	103	37624											
NBR1	4077	hgsc.bcm.edu	37	17	41353793	41353793	+	Missense_Mutation	SNP	A	A	T			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr17:41353793A>T	ENST00000422280.1	+	18	3018	c.2559A>T	c.(2557-2559)agA>agT	p.R853S	NBR1_ENST00000389312.4_Missense_Mutation_p.R853S|NBR1_ENST00000341165.6_Missense_Mutation_p.R853S|NBR1_ENST00000589872.1_Missense_Mutation_p.R853S|NBR1_ENST00000542611.1_Missense_Mutation_p.R832S|NBR1_ENST00000590996.1_Missense_Mutation_p.R853S	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	853					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)		ATCAGATCAGAGGAGGTAATG	0.433																																																0													149	118	127					17																	41353793		1568	3582	5150	SO:0001583	missense	4077			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.2559A>T	chr17.hg19:g.41353793A>T	ENSP00000411250:p.Arg853Ser		Q13173|Q15026|Q5J7Q8|Q96GB6|Q9NRF7	Missense_Mutation	SNP	ENST00000422280.1	hg19	CCDS45694.1	.	.	.	.	.	.	.	.	.	.	A	13.21	2.167954	0.38315	.	.	ENSG00000188554	ENST00000422280;ENST00000542611;ENST00000537493;ENST00000341165;ENST00000389312;ENST00000389311	T;T;T;T	0.55760	1.56;0.5;1.56;1.56	5.54	5.54	0.83059	.	.	.	.	.	T	0.67429	0.2892	M	0.64997	1.995	0.46631	D	0.999136	D;B;B	0.63880	0.993;0.08;0.017	D;B;B	0.72338	0.977;0.074;0.008	T	0.67473	-0.5662	9	0.45353	T	0.12	-18.4523	11.9929	0.53186	1.0:0.0:0.0:0.0	.	832;853;853	B7Z5R6;Q14596-2;Q14596	.;.;NBR1_HUMAN	S	853;832;104;853;853;853	ENSP00000411250:R853S;ENSP00000437545:R832S;ENSP00000343479:R853S;ENSP00000373963:R853S	ENSP00000343479:R853S	R	+	3	2	NBR1	38709319	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.322000	0.59215	2.327000	0.79052	0.533000	0.62120	AGA		0.433	NBR1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453461.1	NM_005899		T	41353793	A	T	41353793	3	4	681	1	0	0	0	0	1	0	0	0	10202	301	11	5	2625	5	NBR1	17	41353793	Missense_Mutation	SNP	A	TCGA-IA-A83S-01A-11D-A34Z-10	706079	41353793	39841417	104	37625											
NFE2L1	4779	hgsc.bcm.edu	37	17	46136179	46136179	+	Missense_Mutation	SNP	T	T	C			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr17:46136179T>C	ENST00000362042.3	+	6	2111	c.1495T>C	c.(1495-1497)Tct>Cct	p.S499P	RP5-890E16.4_ENST00000583349.1_RNA|NFE2L1_ENST00000585291.1_Missense_Mutation_p.S469P|NFE2L1_ENST00000583378.1_Missense_Mutation_p.S300P|NFE2L1_ENST00000361665.3_Missense_Mutation_p.S488P|NFE2L1_ENST00000536222.1_Missense_Mutation_p.S343P|NFE2L1_ENST00000357480.5_Missense_Mutation_p.S469P|NFE2L1_ENST00000582155.1_Missense_Mutation_p.S311P	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	499	Poly-Ser.				anatomical structure morphogenesis (GO:0009653)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|inflammatory response (GO:0006954)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	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)|transcription cofactor activity (GO:0003712)			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CAGttcttcctcttcttcctc	0.537																																																0													85	84	84					17																	46136179		2203	4300	6503	SO:0001583	missense	4779			AK090459	CCDS11524.1	17q21.3	2013-08-23	2013-08-23			ENSG00000082641		"basic leucine zipper proteins"	7781	protein-coding gene	gene with protein product		163260	"nuclear factor (erythroid-derived 2)-like 1"	TCF11		8248256, 9501099	Standard	NM_003204		Approved	NRF1, LCR-F1, FLJ00380	uc002imz.4	Q14494		ENST00000362042.3:c.1495T>C	chr17.hg19:g.46136179T>C	ENSP00000354855:p.Ser499Pro		D3DTU3|D3DTU5|Q12877|Q96FN6	Missense_Mutation	SNP	ENST00000362042.3	hg19	CCDS11524.1	.	.	.	.	.	.	.	.	.	.	T	10.16	1.272865	0.23221	.	.	ENSG00000082641	ENST00000362042;ENST00000361665;ENST00000357480;ENST00000536222	T;T	0.38240	1.15;1.15	3.45	3.45	0.39498	.	0.195954	0.32785	N	0.005651	T	0.48077	0.1480	L	0.52573	1.65	0.50039	D	0.999841	P;P;P;D	0.54601	0.945;0.909;0.945;0.967	D;P;P;D	0.68621	0.959;0.665;0.82;0.939	T	0.39251	-0.9623	10	0.41790	T	0.15	-6.8658	8.8827	0.35384	0.0:0.0:0.0:1.0	.	343;311;469;499	F5H1B7;B4DYE1;Q14494-2;Q14494	.;.;.;NF2L1_HUMAN	P	518;499;469;343	ENSP00000350072:S469P;ENSP00000445811:S343P	ENSP00000350072:S469P	S	+	1	0	NFE2L1	43491178	0.998000	0.40836	0.808000	0.32385	0.295000	0.27426	2.390000	0.44416	1.545000	0.49373	0.460000	0.39030	TCT		0.537	NFE2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443019.1	NM_003204		C	46136179	T	C	46136179	3	2	681	1	0	0	0	0	1	0	0	0	10369	1551	54	3	1513	3	NFE2L1	17	46136179	Missense_Mutation	SNP	T	TCGA-IA-A83S-01A-11D-A34Z-10	4782386	46136179	35059031	105	37626											
ACE	1636	hgsc.bcm.edu	37	17	61573760	61573760	+	Missense_Mutation	SNP	T	T	C			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr17:61573760T>C	ENST00000290866.4	+	23	3410	c.3386T>C	c.(3385-3387)tTt>tCt	p.F1129S	ACE_ENST00000490216.2_Missense_Mutation_p.F555S|ACE_ENST00000413513.3_Intron|ACE_ENST00000577647.1_Missense_Mutation_p.F555S|ACE_ENST00000290863.6_Missense_Mutation_p.F555S|ACE_ENST00000428043.1_Missense_Mutation_p.F1129S|ACE_ENST00000421982.2_Intron	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	1129	Peptidase M2 2.				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)	TCCAGGTACTTTGTCAGCTTC	0.617																																																0													101	97	98					17																	61573760		2203	4300	6503	SO:0001583	missense	1636			J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"CD molecules"	2707	protein-coding gene	gene with protein product	"peptidyl-dipeptidase A"	106180	"angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.3386T>C	chr17.hg19:g.61573760T>C	ENSP00000290866:p.Phe1129Ser		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	ENST00000290866.4	hg19	CCDS11637.1	.	.	.	.	.	.	.	.	.	.	T	11.78	1.740370	0.30865	.	.	ENSG00000159640	ENST00000290866;ENST00000428043;ENST00000290863	T;T;T	0.47528	0.84;0.84;0.84	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.77638	0.4160	H	0.95437	3.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.84953	0.0872	10	0.87932	D	0	-25.0283	14.67	0.68937	0.0:0.0:0.0:1.0	.	555;1129	P12821-3;P12821	.;ACE_HUMAN	S	1129;1129;555	ENSP00000290866:F1129S;ENSP00000397593:F1129S;ENSP00000290863:F555S	ENSP00000290863:F555S	F	+	2	0	ACE	58927492	1.000000	0.71417	0.891000	0.34965	0.277000	0.26821	6.174000	0.71943	1.938000	0.56188	0.397000	0.26171	TTT		0.617	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2			C	61573760	T	C	61573760	3	2	681	1	0	0	0	0	1	0	0	0	136	1841	64	3	3679	3	ACE	17	61573760	Missense_Mutation	SNP	T	TCGA-IA-A83S-01A-11D-A34Z-10	15437581	61573760	19621450	106	37627											
THOC1	9984	hgsc.bcm.edu	37	18	267995	267995	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr18:267995delT	ENST00000261600.6	-	1	32	c.25delA	c.(25-27)agtfs	p.S9fs	RP11-705O1.8_ENST00000581677.1_lincRNA|THOC1_ENST00000582313.1_5'UTR	NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN	THO complex 1	9					apoptotic process (GO:0006915)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of isotype switching to IgA isotypes (GO:0048297)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|regulation of DNA recombination (GO:0000018)|regulation of DNA-templated transcription, elongation (GO:0032784)|replication fork processing (GO:0031297)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				TCGGGCAAACTGAAGAGCGGC	0.647																																																0													18	23	21					18																	267995		1948	4131	6079	SO:0001589	frameshift_variant	9984			AK055354	CCDS45820.1	18p11.32	2013-02-11			ENSG00000079134	ENSG00000079134		"THO complex subunits"	19070	protein-coding gene	gene with protein product		606930				11979277	Standard	NM_005131		Approved	P84, HPR1	uc002kkj.4	Q96FV9		ENST00000261600.6:c.25delA	chr18.hg19:g.267995delT	ENSP00000261600:p.Ser9fs		B2RBP6|Q15219|Q64I72|Q64I73	Frame_Shift_Del	DEL	ENST00000261600.6	hg19	CCDS45820.1																																																																																				0.647	THOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440348.5	NM_005131		-	267995	T	-	267995	7	5	681	1	0	1	0	1	0	0	0	0	15869	1580	55	0	2032	0	THOC1	18	267995	Frame_Shift_Del	DEL	T	TCGA-IA-A83S-01A-11D-A34Z-10		267995	77809253	107	37628											
LPIN2	9663	hgsc.bcm.edu	37	18	2927795	2927795	+	Silent	SNP	G	G	A			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr18:2927795G>A	ENST00000261596.4	-	12	1873	c.1635C>T	c.(1633-1635)tcC>tcT	p.S545S		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	545					cellular lipid metabolic process (GO:0044255)|dephosphorylation (GO:0016311)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)|transcription coactivator activity (GO:0003713)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		CTTTCACCCAGGACTCAACTG	0.498																																																0													124	115	118					18																	2927795		2203	4300	6503	SO:0001819	synonymous_variant	9663			D87436	CCDS11829.1	18p	2014-09-17			ENSG00000101577	ENSG00000101577			14450	protein-coding gene	gene with protein product		605519				11138012, 9039502	Standard	NM_014646		Approved	KIAA0249	uc002klo.3	Q92539	OTTHUMG00000131508	ENST00000261596.4:c.1635C>T	chr18.hg19:g.2927795G>A			A7MD25|D3DUH3	Silent	SNP	ENST00000261596.4	hg19	CCDS11829.1																																																																																				0.498	LPIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254363.2	NM_014646		A	2927795	G	A	2927795	2	1	681	1	0	0	0	0	0	0	0	1	8921	987	35	2		2	LPIN2	18	2927795	Silent	SNP	G	TCGA-IA-A83S-01A-11D-A34Z-10	2659800	2927795	75149453	108	37629											
SOCS6	9306	hgsc.bcm.edu	37	18	67992989	67992989	+	Missense_Mutation	SNP	A	A	T			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr18:67992989A>T	ENST00000397942.3	+	2	1401	c.1085A>T	c.(1084-1086)cAa>cTa	p.Q362L	SOCS6_ENST00000582322.1_Missense_Mutation_p.Q362L	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	362					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)				GACTCAGTGCAAAGTAGTGGT	0.493																																					Melanoma(84;1024 1361 24382 36583 42651)											0													84	81	82					18																	67992989		2203	4300	6503	SO:0001583	missense	9306			AB006968	CCDS11998.1	18q22	2013-02-14	2004-02-25	2004-02-27	ENSG00000170677	ENSG00000170677		"Suppressors of cytokine signaling", "SH2 domain containing"	16833	protein-coding gene	gene with protein product		605118	"suppressor of cytokine signaling 4"	SOCS4		9344848, 11042152	Standard	NM_004232		Approved	CIS4, SSI4, HSPC060, STATI4, STAI4, Cish4	uc002lkr.1	O14544	OTTHUMG00000132816	ENST00000397942.3:c.1085A>T	chr18.hg19:g.67992989A>T	ENSP00000381034:p.Gln362Leu		Q8WUM3	Missense_Mutation	SNP	ENST00000397942.3	hg19	CCDS11998.1	.	.	.	.	.	.	.	.	.	.	A	19.24	3.789933	0.70337	.	.	ENSG00000170677	ENST00000397942	T	0.24908	1.83	5.34	5.34	0.76211	.	0.000000	0.64402	D	0.000001	T	0.22975	0.0555	L	0.32530	0.975	0.58432	D	0.999999	P	0.35714	0.517	B	0.35550	0.205	T	0.04165	-1.0972	10	0.66056	D	0.02	-11.4417	15.3465	0.74343	1.0:0.0:0.0:0.0	.	362	O14544	SOCS6_HUMAN	L	362	ENSP00000381034:Q362L	ENSP00000381034:Q362L	Q	+	2	0	SOCS6	66143969	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	7.210000	0.77924	2.029000	0.59856	0.459000	0.35465	CAA		0.493	SOCS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256270.2			T	67992989	A	T	67992989	3	4	681	1	0	0	0	0	1	0	0	0	14924	130	5	5	1087	5	SOCS6	18	67992989	Missense_Mutation	SNP	A	TCGA-IA-A83S-01A-11D-A34Z-10	65065194	67992989	10084259	109	37630											
CIRBP	1153	hgsc.bcm.edu	37	19	1272031	1272031	+	Missense_Mutation	SNP	A	A	C			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr19:1272031A>C	ENST00000588030.1	+	6	743	c.483A>C	c.(481-483)agA>agC	p.R161S	CIRBP_ENST00000587896.1_Missense_Mutation_p.R161S|CIRBP-AS1_ENST00000600215.1_RNA|C19orf24_ENST00000409293.4_5'Flank|CIRBP-AS1_ENST00000585832.1_RNA|CIRBP_ENST00000588090.1_Missense_Mutation_p.R161S|CIRBP_ENST00000591935.1_Missense_Mutation_p.R161S|CIRBP_ENST00000589686.1_Missense_Mutation_p.R161S|CIRBP_ENST00000589660.1_Missense_Mutation_p.R161S|CIRBP_ENST00000587323.1_Missense_Mutation_p.R161S|CIRBP_ENST00000413636.2_Missense_Mutation_p.R127S|CIRBP_ENST00000585630.1_Missense_Mutation_p.R161S|CIRBP_ENST00000588230.1_Missense_Mutation_p.R161S|CIRBP_ENST00000320936.5_Missense_Mutation_p.R161S|CIRBP_ENST00000586773.1_Missense_Mutation_p.R161S|CIRBP_ENST00000589710.1_Missense_Mutation_p.R161S|CIRBP_ENST00000589235.1_Missense_Mutation_p.R161S|CIRBP_ENST00000444172.2_Missense_Mutation_p.R108S|CIRBP_ENST00000586472.1_Missense_Mutation_p.R161S			Q14011	CIRBP_HUMAN	cold inducible RNA binding protein	161					mRNA stabilization (GO:0048255)|positive regulation of translation (GO:0045727)|response to cold (GO:0009409)|response to UV (GO:0009411)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|small ribosomal subunit rRNA binding (GO:0070181)|translation repressor activity (GO:0030371)			endometrium(1)|large_intestine(1)|lung(3)	5		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|Breast(49;0.0014)		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)		GGTCCTACAGAGACAGTTATG	0.592																																																0													129	109	116					19																	1272031		2203	4300	6503	SO:0001583	missense	1153			D78134	CCDS12059.1, CCDS74244.1, CCDS74245.1	19p13.3	2013-02-12	2001-11-28		ENSG00000099622	ENSG00000099622		"RNA binding motif (RRM) containing"	1982	protein-coding gene	gene with protein product	"Cold-inducible RNA-binding protein", "glycine-rich RNA binding protein"	602649	"cold inducible RNA-binding protein"			9434172, 9151692	Standard	NM_001280		Approved	CIRP	uc002lrr.4	Q14011		ENST00000588030.1:c.483A>C	chr19.hg19:g.1272031A>C	ENSP00000468788:p.Arg161Ser		B3KT17|B4E2X2	Missense_Mutation	SNP	ENST00000588030.1	hg19	CCDS12059.1	.	.	.	.	.	.	.	.	.	.	A	13.13	2.144678	0.37825	.	.	ENSG00000099622	ENST00000320936;ENST00000413636;ENST00000444172	T;T	0.71579	0.11;-0.58	4.78	2.68	0.31781	.	0.000000	0.85682	D	0.000000	T	0.78874	0.4352	M	0.65975	2.015	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.80764	0.994;0.994;0.981	T	0.76162	-0.3060	10	0.87932	D	0	-21.1913	6.8142	0.23820	0.7263:0.0:0.2737:0.0	.	127;161;161	B4E2X2;D6W5Y5;Q14011	.;.;CIRBP_HUMAN	S	161;127;108	ENSP00000322887:R161S;ENSP00000412831:R127S	ENSP00000322887:R161S	R	+	3	2	CIRBP	1223031	1.000000	0.71417	0.999000	0.59377	0.261000	0.26267	1.005000	0.29834	0.220000	0.20860	0.260000	0.18958	AGA		0.592	CIRBP-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449969.1	NM_001280		C	1272031	A	C	1272031	3	2	681	1	0	0	0	0	1	0	0	0	3435	301	11	5	501	5	CIRBP	19	1272031	Missense_Mutation	SNP	A	TCGA-IA-A83S-01A-11D-A34Z-10		1272031	57856952	110	37631											
GTF2F1	2962	hgsc.bcm.edu	37	19	6387445	6387445	+	Missense_Mutation	SNP	C	C	T			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr19:6387445C>T	ENST00000394456.5	-	5	916	c.452G>A	c.(451-453)cGg>cAg	p.R151Q	GTF2F1_ENST00000429701.2_Intron|CTB-180A7.6_ENST00000599584.1_RNA	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	151					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						CGTGCGATGCCGGGCCAGCGG	0.627																																																0													127	116	120					19																	6387445		2203	4300	6503	SO:0001583	missense	2962				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.452G>A	chr19.hg19:g.6387445C>T	ENSP00000377969:p.Arg151Gln		B2RCS0|Q9BWN0	Missense_Mutation	SNP	ENST00000394456.5	hg19	CCDS12165.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.320920	0.60634	.	.	ENSG00000125651	ENST00000394456;ENST00000542045	T	0.43294	0.95	5.39	3.24	0.37175	Transcription Factor IIF, Rap30/Rap74, interaction (1);	0.212725	0.39475	N	0.001358	T	0.20414	0.0491	N	0.22421	0.69	0.80722	D	1	B	0.27932	0.194	B	0.19666	0.026	T	0.11542	-1.0583	10	0.02654	T	1	-22.0428	7.1332	0.25512	0.0:0.6463:0.0:0.3537	.	151	P35269	T2FA_HUMAN	Q	151;211	ENSP00000377969:R151Q	ENSP00000377969:R151Q	R	-	2	0	GTF2F1	6338445	1.000000	0.71417	0.997000	0.53966	0.920000	0.55202	3.013000	0.49582	0.608000	0.30000	0.655000	0.94253	CGG		0.627	GTF2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398033.1	NM_002096		T	6387445	C	T	6387445	3	4	681	1	0	0	0	0	1	0	0	0	6860	652	23	1	1137	1	GTF2F1	19	6387445	Missense_Mutation	SNP	C	TCGA-IA-A83S-01A-11D-A34Z-10	5115414	6387445	52741538	111	37632											
MUC16	94025	hgsc.bcm.edu	37	19	9071193	9071194	+	Missense_Mutation	DNP	TG	TG	AA			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	T|G	T|G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr19:9071193_9071194TG>AA	ENST00000397910.4	-	3	16455_16456	c.16252_16253CA>TT	c.(16252-16254)CAt>TTt	p.H5418F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5420	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						GTTTGTGGAATGATGCATGGCG	0.505																																																0																																										SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.16252_16253delinsAA	chr19.hg19:g.9071193_9071194delinsAA	ENSP00000381008:p.His5418Phe		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	hg19	CCDS54212.1																																																																																				0.505	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		AA	9071194	TG	AA	9071193	3	1	681	1	0	0	0	0	1	0	0	0	9975	1464	51	5	27598	5	MUC16	19	9071193	Missense_Mutation	DNP	TG	TCGA-IA-A83S-01A-11D-A34Z-10	2683748	9071193	50057790	112	37633											
COL5A3	50509	hgsc.bcm.edu	37	19	10106262	10106262	+	Missense_Mutation	SNP	G	G	T			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr19:10106262G>T	ENST00000264828.3	-	16	1650	c.1565C>A	c.(1564-1566)cCc>cAc	p.P522H	CTD-2553C6.1_ENST00000592332.1_RNA	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	522	Collagen-like 2.|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)			TCGGCCAGGGGGTCCATGAGG	0.512																																																0													61	54	56					19																	10106262		2203	4300	6503	SO:0001583	missense	50509			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.1565C>A	chr19.hg19:g.10106262G>T	ENSP00000264828:p.Pro522His		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	hg19	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.753677	0.49362	.	.	ENSG00000080573	ENST00000264828	D	0.96967	-4.19	5.06	5.06	0.68205	.	0.411439	0.21579	N	0.072270	D	0.97964	0.9330	M	0.83012	2.62	0.46901	D	0.999248	D	0.89917	1.0	D	0.77004	0.989	D	0.98171	1.0452	10	0.56958	D	0.05	.	14.2733	0.66164	0.0:0.0:1.0:0.0	.	522	P25940	CO5A3_HUMAN	H	522	ENSP00000264828:P522H	ENSP00000264828:P522H	P	-	2	0	COL5A3	9967262	0.986000	0.35501	0.986000	0.45419	0.895000	0.52256	1.924000	0.40065	2.519000	0.84933	0.655000	0.94253	CCC		0.512	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		T	10106262	G	T	10106262	3	4	681	1	0	0	0	0	1	0	0	0	3700	1232	43	4	3880	4	COL5A3	19	10106262	Missense_Mutation	SNP	G	TCGA-IA-A83S-01A-11D-A34Z-10	1035069	10106262	49022721	113	37634											
UNC13A	23025	hgsc.bcm.edu	37	19	17720812	17720812	+	Missense_Mutation	SNP	C	C	T			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr19:17720812C>T	ENST00000519716.2	-	43	4747	c.4748G>A	c.(4747-4749)cGc>cAc	p.R1583H	UNC13A_ENST00000551649.1_Missense_Mutation_p.R1602H|UNC13A_ENST00000252773.7_Missense_Mutation_p.R1583H|UNC13A_ENST00000552293.1_Missense_Mutation_p.R1577H|UNC13A_ENST00000550896.1_Missense_Mutation_p.R1556H|UNC13A_ENST00000428389.2_Missense_Mutation_p.R1671H	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1583	C2 3. {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						CGCAAACTTGCGTTTCTTGTC	0.527																																																0													145	153	150					19																	17720812		2079	4234	6313	SO:0001583	missense	23025			AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.4748G>A	chr19.hg19:g.17720812C>T	ENSP00000429562:p.Arg1583His		E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	hg19	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	C	26.7	4.759588	0.89932	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38;-0.38;-0.38	4.13	4.13	0.48395	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	T	0.78648	0.4316	M	0.62154	1.92	0.51767	D	0.999935	D	0.89917	1.0	D	0.97110	1.0	T	0.81099	-0.1086	10	0.66056	D	0.02	-15.6131	13.9527	0.64129	0.0:1.0:0.0:0.0	.	1583	Q9UPW8	UN13A_HUMAN	H	1583;1671;1583;1602;1577;1556	ENSP00000429562:R1583H;ENSP00000400409:R1671H;ENSP00000252773:R1583H;ENSP00000447236:R1602H;ENSP00000447572:R1577H;ENSP00000446831:R1556H	ENSP00000252773:R1583H	R	-	2	0	UNC13A	17581812	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.691000	0.84191	1.869000	0.54173	0.478000	0.44815	CGC		0.527	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		T	17720812	C	T	17720812	3	4	681	1	0	0	0	0	1	0	0	0	16989	768	27	1	371	1	UNC13A	19	17720812	Missense_Mutation	SNP	C	TCGA-IA-A83S-01A-11D-A34Z-10	7614550	17720812	41408171	114	37635											
NLRP7	199713	hgsc.bcm.edu	37	19	55447667	55447667	+	Missense_Mutation	SNP	G	G	T			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr19:55447667G>T	ENST00000590030.1	-	5	2302	c.2262C>A	c.(2260-2262)gaC>gaA	p.D754E	NLRP7_ENST00000592784.1_Missense_Mutation_p.D754E|NLRP7_ENST00000588756.1_Missense_Mutation_p.D754E|NLRP7_ENST00000340844.2_Missense_Mutation_p.D754E|NLRP7_ENST00000446217.1_Missense_Mutation_p.D782E|NLRP7_ENST00000328092.5_Missense_Mutation_p.D726E|NLRP7_ENST00000448121.2_Missense_Mutation_p.D726E			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	754							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)		TTCTGAGCAGGTCACACAGCA	0.577																																																0													136	102	114					19																	55447667		2203	4300	6503	SO:0001583	missense	199713			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.2262C>A	chr19.hg19:g.55447667G>T	ENSP00000465520:p.Asp754Glu		E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	hg19	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	g	0.004	-2.281893	0.00251	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217;ENST00000399724	T;T;T	0.51071	0.72;0.72;0.72	2.31	-2.58	0.06228	.	1.603560	0.04433	N	0.369540	T	0.18509	0.0444	N	0.05306	-0.075	0.09310	N	1	B;B;B;B	0.13145	0.004;0.004;0.004;0.007	B;B;B;B	0.08055	0.002;0.002;0.002;0.003	T	0.16364	-1.0405	10	0.02654	T	1	.	1.8101	0.03089	0.199:0.301:0.3702:0.1298	.	782;754;754;726	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	E	754;726;754;782;521	ENSP00000409137:D726E;ENSP00000339491:D754E;ENSP00000414273:D782E	ENSP00000329568:D754E	D	-	3	2	NLRP7	60139479	0.021000	0.18746	0.000000	0.03702	0.001000	0.01503	-0.000000	0.12993	-0.524000	0.06400	-2.688000	0.00140	GAC		0.577	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		T	55447667	G	T	55447667	3	4	681	1	0	0	0	0	1	0	0	0	10484	1252	44	4	875	4	NLRP7	19	55447667	Missense_Mutation	SNP	G	TCGA-IA-A83S-01A-11D-A34Z-10	37726855	55447667	3681316	115	37636											
ZNF551	90233	hgsc.bcm.edu	37	19	58199244	58199244	+	Missense_Mutation	SNP	G	G	T			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr19:58199244G>T	ENST00000282296.5	+	3	1786	c.1601G>T	c.(1600-1602)aGt>aTt	p.S534I	AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000356715.4_Missense_Mutation_p.S518I|AC003006.7_ENST00000599221.1_Intron|ZNF551_ENST00000596085.1_Intron			Q7Z340	ZN551_HUMAN	zinc finger protein 551	534					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)		TATGAGTGCAGTGAATGTGGC	0.443																																																0													86	81	83					19																	58199244		2203	4300	6503	SO:0001583	missense	90233			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.1601G>T	chr19.hg19:g.58199244G>T	ENSP00000282296:p.Ser534Ile		B4DU22|P17034|Q8N246|Q9BRY1	Missense_Mutation	SNP	ENST00000282296.5	hg19	CCDS12959.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.02|12.02	1.811290|1.811290	0.32053|0.32053	.|.	.|.	ENSG00000204519|ENSG00000228006	ENST00000356715;ENST00000282296;ENST00000359821|ENST00000541705	.|.	.|.	.|.	2.31|2.31	-3.52|-3.52	0.04682|0.04682	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	.|1.745300	.|0.03889	.|U	.|0.278446	T|T	0.47710|0.47710	0.1460|0.1460	M|M	0.73430|0.73430	2.235|2.235	0.09310|0.09310	N|N	1|1	D|.	0.64830|.	0.994|.	D|.	0.73708|.	0.981|.	T|T	0.31833|0.31833	-0.9929|-0.9929	7|7	.|0.17369	.|T	.|0.5	.|.	5.7017|5.7017	0.17885|0.17885	0.2834:0.4143:0.3024:0.0|0.2834:0.4143:0.3024:0.0	.|.	534|.	Q7Z340|.	ZN551_HUMAN|.	I|N	534;518;317|54	.|.	.|ENSP00000437781:T54N	S|T	+|-	2|2	0|0	ZNF551|AC004017.1	62891056|62891056	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-4.012000|-4.012000	0.00314|0.00314	-1.099000|-1.099000	0.03034|0.03034	-1.134000|-1.134000	0.01955|0.01955	AGT|ACT		0.443	ZNF551-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466803.2	NM_138347		T	58199244	G	T	58199244	3	4	681	1	0	0	0	0	1	0	0	0	17988	1029	36	4	1563	4	ZNF551	19	58199244	Missense_Mutation	SNP	G	TCGA-IA-A83S-01A-11D-A34Z-10	2751577	58199244	929739	116	37637											
C20orf194	25943	hgsc.bcm.edu	37	20	3305593	3305593	+	Missense_Mutation	SNP	G	G	C	rs190605250		TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr20:3305593G>C	ENST00000252032.9	-	14	1278	c.1211C>G	c.(1210-1212)aCt>aGt	p.T404S	C20orf194_ENST00000453730.2_Missense_Mutation_p.T142S	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	404										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						AGATCCCAGAGTTTGCTCTGC	0.418																																																0													100	106	104					20																	3305593		1866	4105	5971	SO:0001583	missense	25943			AL110249	CCDS42851.1	20p13	2012-10-30			ENSG00000088854	ENSG00000088854			17721	protein-coding gene	gene with protein product		614146					Standard	NM_001009984		Approved	DKFZp434N061	uc002wii.3	Q5TEA3	OTTHUMG00000031742	ENST00000252032.9:c.1211C>G	chr20.hg19:g.3305593G>C	ENSP00000252032:p.Thr404Ser		Q66K86|Q6P2R9|Q9UFX9	Missense_Mutation	SNP	ENST00000252032.9	hg19	CCDS42851.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.446795	0.43429	.	.	ENSG00000088854	ENST00000252032;ENST00000453730	T;T	0.33216	2.23;1.42	5.34	4.39	0.52855	.	0.175484	0.49305	D	0.000147	T	0.31040	0.0784	L	0.60455	1.87	0.37681	D	0.9235	B;B	0.10296	0.003;0.001	B;B	0.12156	0.007;0.007	T	0.19811	-1.0294	10	0.39692	T	0.17	.	12.9761	0.58538	0.0789:0.0:0.9211:0.0	.	143;404	Q0IIP3;Q5TEA3	.;CT194_HUMAN	S	404;142	ENSP00000252032:T404S;ENSP00000407229:T142S	ENSP00000252032:T404S	T	-	2	0	C20orf194	3253593	0.758000	0.28405	0.993000	0.49108	0.986000	0.74619	1.707000	0.37888	1.479000	0.48272	0.655000	0.94253	ACT		0.418	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077734.1	NM_001009984		C	3305593	G	C	3305593	3	2	681	1	0	0	0	0	1	0	0	0	2101	1029	36	4	2418	4	C20orf194	20	3305593	Missense_Mutation	SNP	G	TCGA-IA-A83S-01A-11D-A34Z-10		3305593	59719927	117	37638											
RALGAPB	57148	hgsc.bcm.edu	37	20	37159824	37159824	+	Missense_Mutation	SNP	A	A	T			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr20:37159824A>T	ENST00000262879.6	+	14	2349	c.2065A>T	c.(2065-2067)Att>Ttt	p.I689F	RALGAPB_ENST00000397038.1_Missense_Mutation_p.I467F|RALGAPB_ENST00000397040.1_Missense_Mutation_p.I689F|RALGAPB_ENST00000397042.3_Missense_Mutation_p.I689F			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	689					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						AATGTTAAATATTGTTCAAGA	0.313																																																0													116	114	115					20																	37159824		2203	4300	6503	SO:0001583	missense	57148			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.2065A>T	chr20.hg19:g.37159824A>T	ENSP00000262879:p.Ile689Phe		A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	ENST00000262879.6	hg19	CCDS13305.1	.	.	.	.	.	.	.	.	.	.	A	27.9	4.876802	0.91664	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000304939;ENST00000397038;ENST00000397040;ENST00000438490	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.60676	0.2287	L	0.40543	1.245	0.80722	D	1	D;D;D;D	0.57899	0.981;0.981;0.981;0.981	P;P;P;P	0.57101	0.813;0.813;0.813;0.813	T	0.54990	-0.8210	9	0.10111	T	0.7	.	15.8481	0.78907	1.0:0.0:0.0:0.0	.	517;689;689;689	A2A2F0;Q86X10-4;A2A2E9;Q86X10	.;.;.;RLGPB_HUMAN	F	689;689;689;467;689;517	.	ENSP00000262879:I689F	I	+	1	0	RALGAPB	36593238	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.574000	0.74014	2.149000	0.67028	0.397000	0.26171	ATT		0.313	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		T	37159824	A	T	37159824	3	4	681	1	0	0	0	0	1	0	0	0	13021	449	16	5	2115	5	RALGAPB	20	37159824	Missense_Mutation	SNP	A	TCGA-IA-A83S-01A-11D-A34Z-10	33854231	37159824	25865696	118	37639											
L3MBTL	26013	hgsc.bcm.edu	37	20	42157990	42157990	+	Silent	SNP	C	C	T			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr20:42157990C>T	ENST00000427442.2	+	9	1131	c.972C>T	c.(970-972)ttC>ttT	p.F324F	L3MBTL1_ENST00000373134.1_Silent_p.F256F|L3MBTL1_ENST00000373135.3_Silent_p.F256F|L3MBTL1_ENST00000444063.1_Silent_p.F256F|L3MBTL1_ENST00000418998.1_Silent_p.F324F			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	256					chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of mitosis (GO:0007088)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|nucleosome binding (GO:0031491)|SAM domain binding (GO:0032093)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						CCATGTACTTCATCCTCACCG	0.517																																																0													191	121	145					20																	42157990		2203	4300	6503	SO:0001819	synonymous_variant	26013			U89358	CCDS13319.1, CCDS46602.1, CCDS46602.2	20q13.12	2013-01-10	2010-09-03	2010-09-03	ENSG00000185513	ENSG00000185513		"Zinc fingers, C2HC-type containing", "Sterile alpha motif (SAM) domain containing"	15905	protein-coding gene	gene with protein product	"lethal (3) malignant brain tumor l(3)"	608802	"l(3)mbt (Drosophila)-like", "l(3)mbt-like (Drosophila)"	L3MBTL		10445843, 17540172	Standard	NM_032107		Approved	ZC2HC3, dJ138B7.3, DKFZp586P1522, KIAA0681	uc010zwh.2	Q9Y468	OTTHUMG00000032503	ENST00000427442.2:c.972C>T	chr20.hg19:g.42157990C>T			B4DRC9|E1P5W7|Q5H8Y8|Q5H8Y9|Q8IUV7|Q9H1E6|Q9H1G5|Q9UG06|Q9UJB9|Q9Y4C9	Silent	SNP	ENST00000427442.2	hg19	CCDS46602.2																																																																																				0.517	L3MBTL1-007	KNOWN	upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079300.3	NM_032107		T	42157990	C	T	42157990	2	4	681	1	0	0	0	0	0	0	0	1	8593	825	29	2		2	L3MBTL	20	42157990	Silent	SNP	C	TCGA-IA-A83S-01A-11D-A34Z-10	4998166	42157990	20867530	119	37640											
CSE1L	1434	hgsc.bcm.edu	37	20	47686789	47686789	+	Missense_Mutation	SNP	T	T	A			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr20:47686789T>A	ENST00000262982.2	+	8	846	c.723T>A	c.(721-723)aaT>aaA	p.N241K	CSE1L_ENST00000542325.1_Missense_Mutation_p.N24K|CSE1L_ENST00000396192.3_Missense_Mutation_p.N241K	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	241					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	importin-alpha export receptor activity (GO:0008262)			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			GGATGAATAATTTTCATACTC	0.284																																																0													69	80	77					20																	47686789		2198	4298	6496	SO:0001583	missense	1434			U33286	CCDS13412.1, CCDS58773.1	20q13	2013-05-01	2001-11-28		ENSG00000124207	ENSG00000124207		"Exportins"	2431	protein-coding gene	gene with protein product	"cellular apoptosis susceptibility"	601342	"chromosome segregation 1 (yeast homolog)-like"			8963895, 7479798	Standard	NM_001316		Approved	CAS, XPO2, CSE1	uc002xty.4	P55060	OTTHUMG00000033046	ENST00000262982.2:c.723T>A	chr20.hg19:g.47686789T>A	ENSP00000262982:p.Asn241Lys		A3RLL6|B2R5T4|E1P5Y0|F8W904|O75432|Q32M40|Q9H5B7|Q9NTS0|Q9UP98|Q9UP99|Q9UPA0	Missense_Mutation	SNP	ENST00000262982.2	hg19	CCDS13412.1	.	.	.	.	.	.	.	.	.	.	T	14.79	2.639615	0.47153	.	.	ENSG00000124207	ENST00000417408;ENST00000262982;ENST00000542325;ENST00000396192	T;T;T	0.66280	-0.2;-0.2;-0.2	5.42	2.91	0.33838	Armadillo-like helical (1);Armadillo-type fold (1);Exportin/Importin, Cse1-like (1);	0.000000	0.85682	D	0.000000	T	0.55481	0.1923	L	0.39898	1.24	0.58432	D	0.999999	P;B;P	0.44344	0.833;0.418;0.737	P;B;P	0.49140	0.499;0.236;0.601	T	0.46076	-0.9217	10	0.11182	T	0.66	-24.0938	9.6613	0.39956	0.0:0.2852:0.0:0.7148	.	24;241;241	B4DUC5;F8W904;P55060	.;.;XPO2_HUMAN	K	7;241;24;241	ENSP00000262982:N241K;ENSP00000446477:N24K;ENSP00000379495:N241K	ENSP00000262982:N241K	N	+	3	2	CSE1L	47120196	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.762000	0.26503	0.354000	0.24105	0.482000	0.46254	AAT		0.284	CSE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080345.2	NM_001316		A	47686789	T	A	47686789	3	1	681	1	0	0	0	0	1	0	0	0	3932	1490	52	5	749	5	CSE1L	20	47686789	Missense_Mutation	SNP	T	TCGA-IA-A83S-01A-11D-A34Z-10	5528799	47686789	15338731	120	37641											
PCK1	5105	hgsc.bcm.edu	37	20	56137813	56137813	+	Silent	SNP	C	C	A	rs144907840	byFrequency	TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr20:56137813C>A	ENST00000319441.4	+	4	632	c.468C>A	c.(466-468)atC>atA	p.I156I	PCK1_ENST00000543666.1_Intron|PCK1_ENST00000535860.1_Silent_p.I24I	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	156					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)			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)			TGTCAAAGATCGGCATCGAGC	0.617																																																0													68	56	60					20																	56137813		2203	4300	6503	SO:0001819	synonymous_variant	5105				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.468C>A	chr20.hg19:g.56137813C>A			A8K437|B4DT64|Q8TCA3|Q9UJD2	Silent	SNP	ENST00000319441.4	hg19	CCDS13460.1																																																																																				0.617	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079851.2			A	56137813	C	A	56137813	2	1	681	1	0	0	0	0	0	0	0	1	11583	874	31	4		4	PCK1	20	56137813	Silent	SNP	C	TCGA-IA-A83S-01A-11D-A34Z-10	8451024	56137813	6887707	121	37642											
RNF160	26046	hgsc.bcm.edu	37	21	30339388	30339388	+	Missense_Mutation	SNP	T	T	G			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr21:30339388T>G	ENST00000361371.5	-	10	1504	c.1425A>C	c.(1423-1425)aaA>aaC	p.K475N	LTN1_ENST00000389194.2_Missense_Mutation_p.K521N|LTN1_ENST00000389195.2_Missense_Mutation_p.K521N			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	475					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						TTTTTTCATCTTTTTCCGTGT	0.433																																																0													173	153	160					21																	30339388		2203	4300	6503	SO:0001583	missense	26046			AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"RING-type (C3HC4) zinc fingers"	13082	protein-coding gene	gene with protein product	"listerin"	613083	"chromosome 21 open reading frame 98", "zinc finger protein 294", "ring finger protein 160"	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.1425A>C	chr21.hg19:g.30339388T>G	ENSP00000354977:p.Lys475Asn		A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	ENST00000361371.5	hg19		.	.	.	.	.	.	.	.	.	.	T	7.074	0.568893	0.13560	.	.	ENSG00000198862	ENST00000389194;ENST00000361371;ENST00000446611;ENST00000389195	T;T;T	0.23950	2.22;2.23;1.88	5.02	2.38	0.29361	Armadillo-type fold (1);	0.380490	0.31566	N	0.007428	T	0.09512	0.0234	N	0.08118	0	0.29856	N	0.828004	B	0.02656	0.0	B	0.01281	0.0	T	0.23762	-1.0179	10	0.14252	T	0.57	.	3.8422	0.08918	0.1875:0.2734:0.0:0.5391	.	475	O94822	LTN1_HUMAN	N	521;475;477;521	ENSP00000373846:K521N;ENSP00000354977:K475N;ENSP00000373847:K521N	ENSP00000354977:K475N	K	-	3	2	LTN1	29261259	0.060000	0.20803	0.102000	0.21198	0.563000	0.35712	0.127000	0.15790	0.388000	0.25054	-0.256000	0.11100	AAA		0.433	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565		G	30339388	T	G	30339388	3	3	681	1	0	0	0	0	1	0	0	0	13461	1606	56	5	3959	5	RNF160	21	30339388	Missense_Mutation	SNP	T	TCGA-IA-A83S-01A-11D-A34Z-10		30339388	17790507	122	37643											
MX2	4600	hgsc.bcm.edu	37	21	42775260	42775260	+	Missense_Mutation	SNP	A	A	G			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr21:42775260A>G	ENST00000330714.3	+	12	1824	c.1640A>G	c.(1639-1641)cAa>cGa	p.Q547R		NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	MX dynamin-like GTPase 2	547					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)				AACCTTAACCAAACTGTTCAG	0.398																																																0													72	69	70					21																	42775260		2203	4300	6503	SO:0001583	missense	4600				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.1640A>G	chr21.hg19:g.42775260A>G	ENSP00000333657:p.Gln547Arg		B7Z5D3|D3DSI7	Missense_Mutation	SNP	ENST00000330714.3	hg19	CCDS13672.1	.	.	.	.	.	.	.	.	.	.	A	0.015	-1.540708	0.00934	.	.	ENSG00000183486	ENST00000330714	T	0.72835	-0.69	3.63	0.0676	0.14366	Dynamin central domain (1);	0.316592	0.32687	N	0.005766	T	0.36826	0.0981	N	0.04805	-0.155	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.31194	-0.9952	10	0.02654	T	1	.	5.4593	0.16607	0.5476:0.0:0.4524:0.0	.	547	P20592	MX2_HUMAN	R	547	ENSP00000333657:Q547R	ENSP00000333657:Q547R	Q	+	2	0	MX2	41697130	0.009000	0.17119	0.000000	0.03702	0.001000	0.01503	0.513000	0.22770	0.132000	0.18615	0.533000	0.62120	CAA		0.398	MX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195147.1	NM_002463		G	42775260	A	G	42775260	3	3	681	1	0	0	0	0	1	0	0	0	10000	130	5	3	1682	3	MX2	21	42775260	Missense_Mutation	SNP	A	TCGA-IA-A83S-01A-11D-A34Z-10	12435872	42775260	5354635	123	37644											
PFKL	5211	hgsc.bcm.edu	37	21	45744509	45744509	+	Missense_Mutation	SNP	G	G	A	rs138177950		TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr21:45744509G>A	ENST00000349048.4	+	17	1841	c.1786G>A	c.(1786-1788)Gag>Aag	p.E596K	PFKL_ENST00000403390.1_Missense_Mutation_p.E643K	NM_002626.4	NP_002617.3	P17858	PFKAL_HUMAN	phosphofructokinase, liver	596	C-terminal regulatory PFK domain 2.				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)		CTACGTCTTCGAGGACCCTTT	0.652																																																0								G	LYS/GLU	0,4404		0,0,2202	67	64	65		1786	4.1	1	21	dbSNP_134	65	1,8599	1.2+/-3.3	0,1,4299	no	missense	PFKL	NM_002626.4	56	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	596/781	45744509	1,13003	2202	4300	6502	SO:0001583	missense	5211				CCDS33582.1	21q22.3	1992-12-17			ENSG00000141959	ENSG00000141959	2.7.1.11		8876	protein-coding gene	gene with protein product		171860					Standard	NR_024108		Approved		uc002zel.3	P17858	OTTHUMG00000086910	ENST00000349048.4:c.1786G>A	chr21.hg19:g.45744509G>A	ENSP00000269848:p.Glu596Lys		Q96A64|Q96IH4|Q9BR91	Missense_Mutation	SNP	ENST00000349048.4	hg19	CCDS33582.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.066876	0.76301	0.0	1.16E-4	ENSG00000141959	ENST00000349048;ENST00000534847;ENST00000403390	D;D	0.93076	-3.16;-3.16	4.1	4.1	0.47936	Phosphofructokinase domain (2);	0.000000	0.85682	D	0.000000	D	0.97788	0.9274	H	0.97103	3.94	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.991	D	0.99312	1.0904	10	0.87932	D	0	-38.3049	15.126	0.72483	0.0:0.0:1.0:0.0	.	596;643	P17858;P17858-2	K6PL_HUMAN;.	K	596;389;643	ENSP00000269848:E596K;ENSP00000384038:E643K	ENSP00000269848:E596K	E	+	1	0	PFKL	44568937	1.000000	0.71417	0.962000	0.40283	0.118000	0.20060	9.323000	0.96364	1.852000	0.53769	0.467000	0.42956	GAG		0.652	PFKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195805.1			A	45744509	G	A	45744509	3	1	681	1	0	0	0	0	1	0	0	0	11766	1059	37	1	1852	1	PFKL	21	45744509	Missense_Mutation	SNP	G	TCGA-IA-A83S-01A-11D-A34Z-10	2969249	45744509	2385386	124	37645											
SREBF2	6721	hgsc.bcm.edu	37	22	42301503	42301503	+	Missense_Mutation	SNP	C	C	T	rs372007376		TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr22:42301503C>T	ENST00000361204.4	+	19	3431	c.3265C>T	c.(3265-3267)Cgc>Tgc	p.R1089C	SREBF2_ENST00000491541.1_3'UTR	NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	1089					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						GCTGGCCTGCCGCCACCTGCC	0.692																																																0													8	9	9					22																	42301503		2135	4233	6368	SO:0001583	missense	6721			U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911		"Basic helix-loop-helix proteins"	11290	protein-coding gene	gene with protein product		600481				7903453	Standard	NM_004599		Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.3265C>T	chr22.hg19:g.42301503C>T	ENSP00000354476:p.Arg1089Cys		Q05BD5|Q6GTH7|Q86V36|Q9UH04	Missense_Mutation	SNP	ENST00000361204.4	hg19	CCDS14023.1	.	.	.	.	.	.	.	.	.	.	C	34	5.301054	0.95601	.	.	ENSG00000198911	ENST00000361204;ENST00000457567;ENST00000543221	T	0.08370	3.1	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.23492	0.0568	L	0.41027	1.25	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.00154	-1.1981	10	0.42905	T	0.14	-22.1429	19.9374	0.97146	0.0:1.0:0.0:0.0	.	1089	Q12772	SRBP2_HUMAN	C	1089;1089;163	ENSP00000354476:R1089C	ENSP00000354476:R1089C	R	+	1	0	SREBF2	40631449	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.772000	0.55325	2.711000	0.92665	0.655000	0.94253	CGC		0.692	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321956.1	NM_004599		T	42301503	C	T	42301503	3	4	681	1	0	0	0	0	1	0	0	0	15147	652	23	1	3339	1	SREBF2	22	42301503	Missense_Mutation	SNP	C	TCGA-IA-A83S-01A-11D-A34Z-10		42301503	9003063	125	37646											
SBF1	6305	hgsc.bcm.edu	37	22	50903456	50903456	+	Missense_Mutation	SNP	A	A	G			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chr22:50903456A>G	ENST00000390679.3	-	12	1490	c.1306T>C	c.(1306-1308)Tac>Cac	p.Y436H	SBF1_ENST00000348911.6_Missense_Mutation_p.Y437H|SBF1_ENST00000380817.3_Missense_Mutation_p.Y436H			O95248	MTMR5_HUMAN	SET binding factor 1	436					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)		GTAGGGCGGTATGGGACCCCA	0.627																																																0													81	87	85					22																	50903456		2161	4249	6410	SO:0001583	missense	6305			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.1306T>C	chr22.hg19:g.50903456A>G	ENSP00000375097:p.Tyr436His		A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	ENST00000390679.3	hg19		.	.	.	.	.	.	.	.	.	.	A	16.91	3.251520	0.59212	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000356279;ENST00000337034;ENST00000390679	D;D;D	0.86562	-2.14;-2.14;-2.14	3.93	3.93	0.45458	.	0.162423	0.42420	D	0.000712	D	0.91516	0.7321	M	0.65498	2.005	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.74023	0.982;0.93;0.961	D	0.91527	0.5239	10	0.51188	T	0.08	.	12.6118	0.56556	1.0:0.0:0.0:0.0	.	436;437;436	O95248;G5E933;O95248-4	MTMR5_HUMAN;.;.	H	436;437;447;446;436	ENSP00000370196:Y436H;ENSP00000252027:Y437H;ENSP00000375097:Y436H	ENSP00000336522:Y446H	Y	-	1	0	SBF1	49250322	1.000000	0.71417	0.830000	0.32933	0.288000	0.27193	7.086000	0.76885	1.650000	0.50662	0.533000	0.62120	TAC		0.627	SBF1-201	KNOWN	basic	protein_coding	protein_coding				G	50903456	A	G	50903456	3	3	681	1	0	0	0	0	1	0	0	0	13864	449	16	3	4495	3	SBF1	22	50903456	Missense_Mutation	SNP	A	TCGA-IA-A83S-01A-11D-A34Z-10	8601953	50903456	401110	126	37647											
GK	2710	hgsc.bcm.edu	37	X	30671708	30671708	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chrX:30671708delG	ENST00000378941.3	+	1	54	c.54delG	c.(52-54)cagfs	p.Q18fs	GK_ENST00000378943.3_Frame_Shift_Del_p.Q18fs|GK_ENST00000378945.3_Frame_Shift_Del_p.Q18fs|GK_ENST00000378946.3_Frame_Shift_Del_p.Q18fs|GK_ENST00000427190.1_5'UTR			P32189	GLPK_HUMAN	glycerol kinase	18					cellular lipid metabolic process (GO:0044255)|glucose homeostasis (GO:0042593)|glycerol catabolic process (GO:0019563)|glycerol metabolic process (GO:0006071)|glycerol-3-phosphate biosynthetic process (GO:0046167)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride metabolic process (GO:0006641)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|glycerol kinase activity (GO:0004370)			central_nervous_system(1)|large_intestine(3)	4						CGGTGGACCAGGGCACCAGTT	0.657																																																0													57	57	57					X																	30671708		2202	4300	6502	SO:0001589	frameshift_variant	2710			X78711	CCDS14225.1, CCDS35224.1, CCDS48090.1, CCDS75963.1	Xp21.3	2014-09-17			ENSG00000198814	ENSG00000198814	2.7.1.30	"Glycerol kinases"	4289	protein-coding gene	gene with protein product		300474				7987308	Standard	NM_203391		Approved	GK1, GKD	uc022buj.1	P32189	OTTHUMG00000021328	ENST00000378941.3:c.54delG	chrX.hg19:g.30671708delG	ENSP00000368224:p.Gln18fs		A6NJP5|B2R833|Q6IQ27|Q8IVR5|Q9UMP0|Q9UMP1	Frame_Shift_Del	DEL	ENST00000378941.3	hg19																																																																																					0.657	GK-005	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000056171.1	NM_000167		-	30671708	G	-	30671708	7	5	681	1	0	1	0	1	0	0	0	0	6422	991	35	0	56	0	GK	23	30671708	Frame_Shift_Del	DEL	G	TCGA-IA-A83S-01A-11D-A34Z-10		30671708	124598852	127	37648											
NUDT10	170685	hgsc.bcm.edu	37	X	51076122	51076122	+	Missense_Mutation	SNP	A	A	T			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chrX:51076122A>T	ENST00000376006.3	+	2	525	c.305A>T	c.(304-306)gAg>gTg	p.E102V	NUDT10_ENST00000356450.2_Missense_Mutation_p.E102V	NM_153183.2	NP_694853.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	0					ADP catabolic process (GO:0046032)|IDP catabolic process (GO:0046709)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrial matrix (GO:0005759)	adenosine-diphosphatase activity (GO:0043262)|ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					ACTGTCACGGAGCTGCTGGAG	0.562																																					NSCLC(90;1817 2035 37909 38249)											0													70	65	67					X																	51076122		2203	4300	6503	SO:0001583	missense	170685			AF469196	CCDS35278.1	Xp11.22-p11.1	2014-05-20			ENSG00000122824	ENSG00000122824		"Nudix motif containing"	17621	protein-coding gene	gene with protein product		300527				12105228	Standard	NM_153183		Approved	DIPP3a, hDIPP3alpha	uc004dph.3	Q8NFP7	OTTHUMG00000021530	ENST00000376006.3:c.305A>T	chrX.hg19:g.51076122A>T	ENSP00000365174:p.Glu102Val		Q8NBN1|Q8NCB9|Q8NG25	Missense_Mutation	SNP	ENST00000376006.3	hg19	CCDS35278.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.151107	0.78001	.	.	ENSG00000122824	ENST00000376006;ENST00000356450	T;T	0.08370	3.1;3.1	3.14	3.14	0.36123	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.000000	0.85682	D	0.000000	T	0.25865	0.0630	M	0.84433	2.695	0.42409	D	0.992596	D	0.61080	0.989	P	0.61874	0.895	T	0.43861	-0.9365	9	0.87932	D	0	-2.7732	8.9702	0.35901	1.0:0.0:0.0:0.0	.	102	Q8NFP7	NUD10_HUMAN	V	102	ENSP00000365174:E102V;ENSP00000348831:E102V	ENSP00000348831:E102V	E	+	2	0	NUDT10	51092862	1.000000	0.71417	0.993000	0.49108	0.989000	0.77384	6.591000	0.74090	1.295000	0.44724	0.350000	0.21858	GAG		0.562	NUDT10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056578.1	NM_153183		T	51076122	A	T	51076122	3	4	681	1	0	0	0	0	1	0	0	0	10728	304	11	5	307	5	NUDT10	23	51076122	Missense_Mutation	SNP	A	TCGA-IA-A83S-01A-11D-A34Z-10	20404414	51076122	104194438	128	37649											
NXT2	55916	hgsc.bcm.edu	37	X	108779141	108779141	+	5'Flank	SNP	G	G	A			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chrX:108779141G>A	ENST00000372106.1	+	0	0				NXT2_ENST00000372107.1_5'Flank|NXT2_ENST00000218004.1_Silent_p.Q10Q|NXT2_ENST00000372103.1_5'Flank	NM_001242617.1	NP_001229546.1	Q9NPJ8	NXT2_HUMAN	nuclear transport factor 2-like export factor 2						mRNA transport (GO:0051028)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	6						ACTGGTCTCAGGGAGACAGAG	0.403																																																0													60	54	56					X																	108779141		2203	4300	6503	SO:0001631	upstream_gene_variant	55916			AF246127	CCDS14546.1, CCDS56605.1, CCDS56606.1	Xq22.3	2008-02-05			ENSG00000101888	ENSG00000101888			18151	protein-coding gene	gene with protein product		300320				11073998	Standard	NM_018698		Approved	P15-2	uc004eoe.2	Q9NPJ8	OTTHUMG00000022185		chrX.hg19:g.108779141G>A	Exception_encountered		D3DUY1|Q0VAN8|Q5JYV5|Q5JYV6|Q5JYV7|Q9H8U0|Q9NQ64|Q9NRL7|Q9Y3M4|Q9Y3M5	Silent	SNP	ENST00000372106.1	hg19	CCDS56605.1																																																																																				0.403	NXT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057886.1	NM_018698		A	108779141	G	A	108779141	1	1	681	0	1	0	0	0	0	0	0	0	10797	991	35	2		2	NXT2	23	108779141	5'Flank	SNP	G	TCGA-IA-A83S-01A-11D-A34Z-10	57703019	108779141	46491419	129	37650											
F8	2157	hgsc.bcm.edu	37	X	154159622	154159622	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IA-A83S-01A-11D-A34Z-10	TCGA-IA-A83S-11A-11D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	239993db-83a2-4300-9378-31070f75b60b	2d7ce817-8f00-4d31-b073-fca46cc77009	g.chrX:154159622G>A	ENST00000360256.4	-	14	2643	c.2443C>T	c.(2443-2445)Cag>Tag	p.Q815*		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	815	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)	GTAGGACTCTGTCGCAAGAGC	0.408																																																0			GRCh37	CM011329	F8	M							210	193	199					X																	154159622		2203	4299	6502	SO:0001587	stop_gained	2157			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.2443C>T	chrX.hg19:g.154159622G>A	ENSP00000353393:p.Gln815*		Q14286|Q5HY69	Nonsense_Mutation	SNP	ENST00000360256.4	hg19	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	G	37	6.182840	0.97357	.	.	ENSG00000185010	ENST00000360256	.	.	.	5.37	4.49	0.54785	.	1.017170	0.07808	N	0.957575	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	-0.2379	11.2271	0.48890	0.0:0.1799:0.8201:0.0	.	.	.	.	X	815	.	ENSP00000353393:Q815X	Q	-	1	0	F8	153812816	0.652000	0.27349	0.868000	0.34077	0.032000	0.12392	1.555000	0.36277	1.028000	0.39785	0.544000	0.68410	CAG		0.408	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			A	154159622	G	A	154159622	4	1	681	1	0	0	0	0	0	1	0	0	5352	1386	48	2	4692	2	F8	23	154159622	Nonsense_Mutation	SNP	G	TCGA-IA-A83S-01A-11D-A34Z-10	45380481	154159622	1110938	130	37651											
PRAMEF12	390999	hgsc.bcm.edu	37	1	12835275	12835275	+	Missense_Mutation	SNP	C	C	T	rs376821629		TCGA-IA-A83T-01A-11D-A34Z-10	TCGA-IA-A83T-11A-11D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	580ff01c-dd91-46ed-a426-7b2afea92207	cfd3629b-47b9-4934-86ab-9695c9f95668	g.chr1:12835275C>T	ENST00000357726.4	+	1	292	c.265C>T	c.(265-267)Ctt>Ttt	p.L89F		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	89					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)		TGATGCACTGCTTGCCCAGAA	0.597																																																0								C	PHE/LEU	0,4396		0,0,2198	75	78	77		265	2.7	0.1	1		77	2,8598		0,2,4298	no	missense	PRAMEF12	NM_001080830.1	22	0,2,6496	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging	89/484	12835275	2,12994	2198	4300	6498	SO:0001583	missense	390999				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.265C>T	chr1.hg19:g.12835275C>T	ENSP00000350358:p.Leu89Phe			Missense_Mutation	SNP	ENST00000357726.4	hg19	CCDS41254.1	.	.	.	.	.	.	.	.	.	.	.	13.29	2.193803	0.38707	0.0	2.33E-4	ENSG00000116726	ENST00000357726	T	0.06068	3.35	2.68	2.68	0.31781	.	0.378221	0.23234	N	0.050437	T	0.13884	0.0336	M	0.90369	3.11	0.09310	N	0.999999	P	0.35174	0.488	B	0.40506	0.331	T	0.09271	-1.0682	10	0.66056	D	0.02	.	5.5671	0.17177	0.0:0.8465:0.0:0.1535	.	89	O95522	PRA12_HUMAN	F	89	ENSP00000350358:L89F	ENSP00000350358:L89F	L	+	1	0	PRAMEF12	12757862	0.076000	0.21285	0.104000	0.21259	0.371000	0.29859	1.313000	0.33585	1.791000	0.52520	0.195000	0.17529	CTT		0.597	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005457.1	XM_372760		T	12835275	C	T	12835275	3	4	682	1	0	0	0	0	1	0	0	0	12433	797	28	2	267	2	PRAMEF12	1	12835275	Missense_Mutation	SNP	C	TCGA-IA-A83T-01A-11D-A34Z-10		12835275	236415346	1	37652											
RPE65	6121	hgsc.bcm.edu	37	1	68910320	68910320	+	Missense_Mutation	SNP	T	T	A			TCGA-IA-A83T-01A-11D-A34Z-10	TCGA-IA-A83T-11A-11D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	580ff01c-dd91-46ed-a426-7b2afea92207	cfd3629b-47b9-4934-86ab-9695c9f95668	g.chr1:68910320T>A	ENST00000262340.5	-	5	442	c.389A>T	c.(388-390)gAc>gTc	p.D130V		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	130					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						AAGGGCATTGTCAGTAACCTC	0.378																																																0													71	74	73					1																	68910320		2203	4300	6503	SO:0001583	missense	6121			U18991	CCDS643.1	1p31	2014-05-13	2002-08-29		ENSG00000116745	ENSG00000116745	3.1.1.64		10294	protein-coding gene	gene with protein product	"retinol isomerase", "all-trans-retinyl-palmitate hydrolase", "retinoid isomerohydrolase", "BCO family, member 3"	180069	"retinal pigment epithelium-specific protein (65kD)"	RP20		8340400	Standard	XM_006710811		Approved	LCA2, rd12, BCO3	uc001dei.1	Q16518	OTTHUMG00000009208	ENST00000262340.5:c.389A>T	chr1.hg19:g.68910320T>A	ENSP00000262340:p.Asp130Val		A8K1L0|Q5T9U3	Missense_Mutation	SNP	ENST00000262340.5	hg19	CCDS643.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.373457	0.82573	.	.	ENSG00000116745	ENST00000262340	D	0.95412	-3.7	5.05	5.05	0.67936	.	0.124550	0.64402	D	0.000001	D	0.97813	0.9282	M	0.89534	3.04	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98674	1.0689	10	0.66056	D	0.02	-19.5298	14.9454	0.71026	0.0:0.0:0.0:1.0	.	130	Q16518	RPE65_HUMAN	V	130	ENSP00000262340:D130V	ENSP00000262340:D130V	D	-	2	0	RPE65	68682908	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.525000	0.81892	2.122000	0.65172	0.533000	0.62120	GAC		0.378	RPE65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025509.1	NM_000329		A	68910320	T	A	68910320	3	1	682	1	0	0	0	0	1	0	0	0	13551	1667	58	5	1252	5	RPE65	1	68910320	Missense_Mutation	SNP	T	TCGA-IA-A83T-01A-11D-A34Z-10	56075045	68910320	180340301	2	37653			1	64		2	2	12	N	TACTCCTCGAAAG_T	2.096452e-05
RPE65	6121	hgsc.bcm.edu	37	1	68910331	68910343	+	Frame_Shift_Del	DEL	TACTCCTCGAAAG	TACTCCTCGAAAG	-	rs61752877		TCGA-IA-A83T-01A-11D-A34Z-10	TCGA-IA-A83T-11A-11D-A34Z-10	TACTCCTCGAAAG	TACTCCTCGAAAG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	580ff01c-dd91-46ed-a426-7b2afea92207	cfd3629b-47b9-4934-86ab-9695c9f95668	g.chr1:68910331_68910343delTACTCCTCGAAAG	ENST00000262340.5	-	5	419_431	c.366_378delCTTTCGAGGAGTA	c.(364-378)tactttcgaggagtafs	p.YFRGV122fs		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	122					cellular response to electrical stimulus (GO:0071257)|detection of light stimulus involved in visual perception (GO:0050908)|insulin receptor signaling pathway (GO:0008286)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin gene expression (GO:0007468)|retina homeostasis (GO:0001895)|retina morphogenesis in camera-type eye (GO:0060042)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity (GO:0052885)|all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity (GO:0052884)|metal ion binding (GO:0046872)|retinal isomerase activity (GO:0004744)	p.R124*(1)|p.R124L(1)		central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						CAGTAACCTCTACTCCTCGAAAGTAAGAAAAAA	0.371																																																2	Substitution - Missense(1)|Substitution - Nonsense(1)	large_intestine(1)|lung(1)	GRCh37	CM983760	RPE65	M	rs61752877																																			SO:0001589	frameshift_variant	6121			U18991	CCDS643.1	1p31	2014-05-13	2002-08-29		ENSG00000116745	ENSG00000116745	3.1.1.64		10294	protein-coding gene	gene with protein product	"retinol isomerase", "all-trans-retinyl-palmitate hydrolase", "retinoid isomerohydrolase", "BCO family, member 3"	180069	"retinal pigment epithelium-specific protein (65kD)"	RP20		8340400	Standard	XM_006710811		Approved	LCA2, rd12, BCO3	uc001dei.1	Q16518	OTTHUMG00000009208	ENST00000262340.5:c.366_378delCTTTCGAGGAGTA	chr1.hg19:g.68910331_68910343delTACTCCTCGAAAG	ENSP00000262340:p.Tyr122fs		A8K1L0|Q5T9U3	Frame_Shift_Del	DEL	ENST00000262340.5	hg19	CCDS643.1																																																																																				0.371	RPE65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025509.1	NM_000329		-	68910343	TACTCCTCGAAAG	-	68910331	7	5	682	1	0	1	0	1	0	0	0	0	13551	1509	53	0	1263	0	RPE65	1	68910331	Frame_Shift_Del	DEL	TACTCCTCGAAAG	TCGA-IA-A83T-01A-11D-A34Z-10	11	68910331	180340290	3	37654			1	64		2	2	12	N	TACTCCTCGAAAG_T	2.096452e-05
CENPF	1063	hgsc.bcm.edu	37	1	214802436	214802436	+	Silent	SNP	T	T	C			TCGA-IA-A83T-01A-11D-A34Z-10	TCGA-IA-A83T-11A-11D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	580ff01c-dd91-46ed-a426-7b2afea92207	cfd3629b-47b9-4934-86ab-9695c9f95668	g.chr1:214802436T>C	ENST00000366955.3	+	8	1284	c.1116T>C	c.(1114-1116)agT>agC	p.S372S		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0	Interaction with SNAP25 and required for localization to the cytoplasm. {ECO:0000250}.				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)		AAGATTTGAGTTGTCAGCGAC	0.313																																					Colon(80;575 1284 11000 14801 43496)											0													64	69	68					1																	214802436		2203	4300	6503	SO:0001819	synonymous_variant	1063			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"mitosin"	600236	"centromere protein F, 350/400kDa (mitosin)"			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.1116T>C	chr1.hg19:g.214802436T>C			Q13171|Q13246|Q5VVM7	Silent	SNP	ENST00000366955.3	hg19	CCDS31023.1																																																																																				0.313	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		C	214802436	T	C	214802436	2	2	682	1	0	0	0	0	0	0	0	1	3233	1722	60	3		3	CENPF	1	214802436	Silent	SNP	T	TCGA-IA-A83T-01A-11D-A34Z-10	145892105	214802436	34448185	4	37655											
LBR	3930	hgsc.bcm.edu	37	1	225592163	225592163	+	Missense_Mutation	SNP	G	G	A			TCGA-IA-A83T-01A-11D-A34Z-10	TCGA-IA-A83T-11A-11D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	580ff01c-dd91-46ed-a426-7b2afea92207	cfd3629b-47b9-4934-86ab-9695c9f95668	g.chr1:225592163G>A	ENST00000338179.2	-	13	1755	c.1630C>T	c.(1630-1632)Cgc>Tgc	p.R544C	LBR_ENST00000272163.4_Missense_Mutation_p.R544C	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	544					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)		TTGGGGTGGCGAACAAAGCCC	0.413																																																0													67	69	68					1																	225592163		2203	4300	6503	SO:0001583	missense	3930			L25931	CCDS1545.1	1q42.1	2013-01-23			ENSG00000143815	ENSG00000143815		"Tudor domain containing"	6518	protein-coding gene	gene with protein product	"tudor domain containing 18"	600024				8157663, 9878250	Standard	NM_194442		Approved	DHCR14B, TDRD18	uc001hoy.3	Q14739	OTTHUMG00000037520	ENST00000338179.2:c.1630C>T	chr1.hg19:g.225592163G>A	ENSP00000339883:p.Arg544Cys		B2R5P3|Q14740|Q53GU7|Q59FE6	Missense_Mutation	SNP	ENST00000338179.2	hg19	CCDS1545.1	.	.	.	.	.	.	.	.	.	.	G	33	5.274431	0.95459	.	.	ENSG00000143815	ENST00000272163;ENST00000338179	D;D	0.98762	-5.12;-5.12	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.99557	0.9841	H	0.98111	4.15	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97985	1.0351	10	0.87932	D	0	-19.7542	20.3316	0.98722	0.0:0.0:1.0:0.0	.	544	Q14739	LBR_HUMAN	C	544	ENSP00000272163:R544C;ENSP00000339883:R544C	ENSP00000272163:R544C	R	-	1	0	LBR	223658786	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	9.708000	0.98727	2.871000	0.98454	0.655000	0.94253	CGC		0.413	LBR-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091398.1	NM_002296		A	225592163	G	A	225592163	3	1	682	1	0	0	0	0	1	0	0	0	8654	1058	37	1	225	1	LBR	1	225592163	Missense_Mutation	SNP	G	TCGA-IA-A83T-01A-11D-A34Z-10	10789727	225592163	23658458	5	37656											
OTOF	9381	hgsc.bcm.edu	37	2	26781380	26781380	+	Silent	SNP	G	G	A			TCGA-IA-A83T-01A-11D-A34Z-10	TCGA-IA-A83T-11A-11D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	580ff01c-dd91-46ed-a426-7b2afea92207	cfd3629b-47b9-4934-86ab-9695c9f95668	g.chr2:26781380G>A	ENST00000272371.2	-	1	186	c.60C>T	c.(58-60)atC>atT	p.I20I	OTOF_ENST00000403946.3_Silent_p.I20I	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	20					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)					TCACTTTGGCGATCCGGTCGC	0.657																																					GBM(102;732 1451 20652 24062 31372)											0													58	57	58					2																	26781380		2203	4300	6503	SO:0001819	synonymous_variant	9381			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.60C>T	chr2.hg19:g.26781380G>A			B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Silent	SNP	ENST00000272371.2	hg19	CCDS1725.1																																																																																				0.657	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			A	26781380	G	A	26781380	2	1	682	1	0	0	0	0	0	0	0	1	11305	1048	37	1		1	OTOF	2	26781380	Silent	SNP	G	TCGA-IA-A83T-01A-11D-A34Z-10		26781380	216417993	6	37657	287	2									
OTOF	9381	hgsc.bcm.edu	37	2	26781388	26781388	+	Missense_Mutation	SNP	C	C	A	rs376856990		TCGA-IA-A83T-01A-11D-A34Z-10	TCGA-IA-A83T-11A-11D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	580ff01c-dd91-46ed-a426-7b2afea92207	cfd3629b-47b9-4934-86ab-9695c9f95668	g.chr2:26781388C>A	ENST00000272371.2	-	1	178	c.52G>T	c.(52-54)Gac>Tac	p.D18Y	OTOF_ENST00000403946.3_Missense_Mutation_p.D18Y	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	18					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)					GCGATCCGGTCGCCCCTGCCC	0.662																																					GBM(102;732 1451 20652 24062 31372)											0													57	56	57					2																	26781388		2203	4300	6503	SO:0001583	missense	9381			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.52G>T	chr2.hg19:g.26781388C>A	ENSP00000272371:p.Asp18Tyr		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	hg19	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.974238	0.74246	.	.	ENSG00000115155	ENST00000272371;ENST00000403946	T;T	0.79653	-1.29;-1.29	5.67	4.79	0.61399	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.87744	0.6254	M	0.70275	2.135	0.50813	D	0.999892	D	0.71674	0.998	D	0.69479	0.964	D	0.88796	0.3281	10	0.87932	D	0	-35.1014	12.7055	0.57058	0.0:0.9196:0.0:0.0804	.	18	Q9HC10	OTOF_HUMAN	Y	18	ENSP00000272371:D18Y;ENSP00000385255:D18Y	ENSP00000272371:D18Y	D	-	1	0	OTOF	26634892	0.989000	0.36119	0.990000	0.47175	0.896000	0.52359	3.138000	0.50570	1.386000	0.46466	0.650000	0.86243	GAC		0.662	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			A	26781388	C	A	26781388	3	1	682	1	0	0	0	0	1	0	0	0	11305	884	31	4	6454	4	OTOF	2	26781388	Missense_Mutation	SNP	C	TCGA-IA-A83T-01A-11D-A34Z-10	8	26781388	216417985	7	37658	287	2									
DCLK3	85443	hgsc.bcm.edu	37	3	36779671	36779671	+	Silent	SNP	C	C	T			TCGA-IA-A83T-01A-11D-A34Z-10	TCGA-IA-A83T-11A-11D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	580ff01c-dd91-46ed-a426-7b2afea92207	cfd3629b-47b9-4934-86ab-9695c9f95668	g.chr3:36779671C>T	ENST00000416516.2	-	2	970	c.480G>A	c.(478-480)ggG>ggA	p.G160G		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	160						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						GCTCACTGGTCCCCAGAGAAA	0.547																																																0													117	122	121					3																	36779671		1954	4150	6104	SO:0001819	synonymous_variant	85443			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.480G>A	chr3.hg19:g.36779671C>T				Silent	SNP	ENST00000416516.2	hg19	CCDS43064.1																																																																																				0.547	DCLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341727.1	XM_047355		T	36779671	C	T	36779671	2	4	682	1	0	0	0	0	0	0	0	1	4295	842	30	2		2	DCLK3	3	36779671	Silent	SNP	C	TCGA-IA-A83T-01A-11D-A34Z-10		36779671	161242759	8	37659											
SCN11A	11280	hgsc.bcm.edu	37	3	38908836	38908836	+	Silent	SNP	G	G	A	rs371852759		TCGA-IA-A83T-01A-11D-A34Z-10	TCGA-IA-A83T-11A-11D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	580ff01c-dd91-46ed-a426-7b2afea92207	cfd3629b-47b9-4934-86ab-9695c9f95668	g.chr3:38908836G>A	ENST00000302328.3	-	23	4125	c.3927C>T	c.(3925-3927)gaC>gaT	p.D1309D	SCN11A_ENST00000450244.1_Silent_p.D1309D|SCN11A_ENST00000456224.3_Silent_p.D1271D|SCN11A_ENST00000444237.2_Silent_p.D1309D	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1309					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)	GGTTGAAGTTGTCAATGATAA	0.368																																																0								G		1,4405	2.1+/-5.4	0,1,2202	150	140	144		3927	2.3	1	3		144	0,8600		0,0,4300	no	coding-synonymous	SCN11A	NM_014139.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		1309/1792	38908836	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	11280			AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10583	protein-coding gene	gene with protein product		604385	"sodium channel, voltage-gated, type XI, alpha polypeptide", "sodium channel, voltage-gated, type XII, alpha"	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.3927C>T	chr3.hg19:g.38908836G>A			A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Silent	SNP	ENST00000302328.3	hg19	CCDS33737.1																																																																																				0.368	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		A	38908836	G	A	38908836	2	1	682	1	0	0	0	0	0	0	0	1	13919	1368	48	2		2	SCN11A	3	38908836	Silent	SNP	G	TCGA-IA-A83T-01A-11D-A34Z-10	2129165	38908836	159113594	9	37660	288	2									
SCN11A	11280	hgsc.bcm.edu	37	3	38908838	38908838	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IA-A83T-01A-11D-A34Z-10	TCGA-IA-A83T-11A-11D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	580ff01c-dd91-46ed-a426-7b2afea92207	cfd3629b-47b9-4934-86ab-9695c9f95668	g.chr3:38908838delC	ENST00000302328.3	-	23	4123	c.3925delG	c.(3925-3927)gacfs	p.D1309fs	SCN11A_ENST00000450244.1_Frame_Shift_Del_p.D1309fs|SCN11A_ENST00000456224.3_Frame_Shift_Del_p.D1271fs|SCN11A_ENST00000444237.2_Frame_Shift_Del_p.D1309fs	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1309					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)	TTGAAGTTGTCAATGATAACG	0.368																																																0													149	141	144					3																	38908838		2203	4300	6503	SO:0001589	frameshift_variant	11280			AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10583	protein-coding gene	gene with protein product		604385	"sodium channel, voltage-gated, type XI, alpha polypeptide", "sodium channel, voltage-gated, type XII, alpha"	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.3925delG	chr3.hg19:g.38908838delC	ENSP00000307599:p.Asp1309fs		A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Frame_Shift_Del	DEL	ENST00000302328.3	hg19	CCDS33737.1																																																																																				0.368	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		-	38908838	C	-	38908838	7	5	682	1	0	1	0	1	0	0	0	0	13919	826	29	0	1466	0	SCN11A	3	38908838	Frame_Shift_Del	DEL	C	TCGA-IA-A83T-01A-11D-A34Z-10	2	38908838	159113592	10	37661	288	2									
SCFD2	152579	hgsc.bcm.edu	37	4	54140020	54140020	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IA-A83T-01A-11D-A34Z-10	TCGA-IA-A83T-11A-11D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	580ff01c-dd91-46ed-a426-7b2afea92207	cfd3629b-47b9-4934-86ab-9695c9f95668	g.chr4:54140020delA	ENST00000401642.3	-	4	1417	c.1284delT	c.(1282-1284)tttfs	p.F428fs	SCFD2_ENST00000388940.4_Frame_Shift_Del_p.F428fs	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	428					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CAAAAGCCAGAAAGTTGTCCC	0.443																																																0													101	96	98					4																	54140020		2203	4300	6503	SO:0001589	frameshift_variant	152579			AY299407	CCDS33984.1	4q12	2004-01-15			ENSG00000184178	ENSG00000184178			30676	protein-coding gene	gene with protein product						12477932	Standard	NM_152540		Approved	STXBP1L1, FLJ39514	uc003gzu.3	Q8WU76	OTTHUMG00000160588	ENST00000401642.3:c.1284delT	chr4.hg19:g.54140020delA	ENSP00000384182:p.Phe428fs		Q8N5F3|Q8N8H0|Q96ED3	Frame_Shift_Del	DEL	ENST00000401642.3	hg19	CCDS33984.1																																																																																				0.443	SCFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361311.3	NM_152540		-	54140020	A	-	54140020	7	5	682	1	0	1	0	1	0	0	0	0	13896	243	9	0	794	0	SCFD2	4	54140020	Frame_Shift_Del	DEL	A	TCGA-IA-A83T-01A-11D-A34Z-10		54140020	137014256	11	37662											
C5orf42	65250	hgsc.bcm.edu	37	5	37185181	37185181	+	Splice_Site	SNP	C	C	T			TCGA-IA-A83T-01A-11D-A34Z-10	TCGA-IA-A83T-11A-11D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	580ff01c-dd91-46ed-a426-7b2afea92207	cfd3629b-47b9-4934-86ab-9695c9f95668	g.chr5:37185181C>T	ENST00000508244.1	-	24	4283	c.4190G>A	c.(4189-4191)gGa>gAa	p.G1397E	C5orf42_ENST00000274258.7_Splice_Site_p.G278E|C5orf42_ENST00000425232.2_Splice_Site_p.G1397E			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1397						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)			AGTCTGGGGTCCTGGAAAGAA	0.398																																																0													49	49	49					5																	37185181		2203	4300	6503	SO:0001630	splice_region_variant	65250				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.4190-1G>A	chr5.hg19:g.37185181C>T			A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	hg19	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	C	29.3	4.996523	0.93167	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	5.98	5.98	0.97165	.	0.081462	0.45126	D	0.000390	T	0.68054	0.2959	N	0.24115	0.695	0.43480	D	0.995705	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.67768	-0.5585	10	0.45353	T	0.12	.	15.5265	0.75915	0.0:0.9324:0.0:0.0676	.	1397;278	E9PH94;Q9H799	.;CE042_HUMAN	E	1397;1397;278;445;278	ENSP00000421690:G1397E;ENSP00000389014:G1397E;ENSP00000274258:G278E;ENSP00000424223:G445E	ENSP00000274258:G278E	G	-	2	0	C5orf42	37220938	0.996000	0.38824	0.983000	0.44433	0.982000	0.71751	2.961000	0.49168	2.847000	0.97988	0.591000	0.81541	GGA		0.398	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073	Missense_Mutation	T	37185181	C	T	37185181	5	4	682	1	0	0	0	0	0	0	1	0	2303	869	30	2	5515	2	C5orf42	5	37185181	Splice_Site	SNP	C	TCGA-IA-A83T-01A-11D-A34Z-10		37185181	143730079	12	37663											
CCNO	10309	hgsc.bcm.edu	37	5	54528321	54528321	+	Silent	SNP	G	G	A			TCGA-IA-A83T-01A-11D-A34Z-10	TCGA-IA-A83T-11A-11D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	580ff01c-dd91-46ed-a426-7b2afea92207	cfd3629b-47b9-4934-86ab-9695c9f95668	g.chr5:54528321G>A	ENST00000282572.4	-	2	591	c.435C>T	c.(433-435)cgC>cgT	p.R145R	RP11-506H20.1_ENST00000506435.1_RNA	NM_021147.3	NP_066970.3	P22674	CCNO_HUMAN	cyclin O	145					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|cell cycle (GO:0007049)|cell division (GO:0051301)|cilium assembly (GO:0042384)|depyrimidination (GO:0045008)|DNA repair (GO:0006281)|embryo development (GO:0009790)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to drug (GO:0042493)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	uracil DNA N-glycosylase activity (GO:0004844)			endometrium(1)|lung(3)|skin(1)	5		Lung NSC(810;4.08e-05)|Breast(144;0.0735)|Prostate(74;0.183)	LUSC - Lung squamous cell carcinoma(15;0.142)|Lung(15;0.161)			GGCCGAATTGGCGGTGCACCG	0.667																																																0													71	60	64					5																	54528321		2203	4300	6503	SO:0001819	synonymous_variant	10309			M87499	CCDS34157.1	5q11.2	2010-11-15	2007-07-26	2007-07-26	ENSG00000152669	ENSG00000152669			18576	protein-coding gene	gene with protein product		607752	"cyclin U"	CCNU			Standard	NR_125346		Approved	UDG2, FLJ22422, UNG2	uc003jpw.3	P22674	OTTHUMG00000162598	ENST00000282572.4:c.435C>T	chr5.hg19:g.54528321G>A			A8K1W5|Q0P6J2|Q9H6B0|Q9UMD5	Silent	SNP	ENST00000282572.4	hg19	CCDS34157.1																																																																																				0.667	CCNO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369707.1	NM_021147		A	54528321	G	A	54528321	2	1	682	1	0	0	0	0	0	0	0	1	2935	1190	42	2		2	CCNO	5	54528321	Silent	SNP	G	TCGA-IA-A83T-01A-11D-A34Z-10	17343140	54528321	126386939	13	37664											
MAS1L	116511	hgsc.bcm.edu	37	6	29455103	29455103	+	Missense_Mutation	SNP	C	C	G			TCGA-IA-A83T-01A-11D-A34Z-10	TCGA-IA-A83T-11A-11D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	580ff01c-dd91-46ed-a426-7b2afea92207	cfd3629b-47b9-4934-86ab-9695c9f95668	g.chr6:29455103C>G	ENST00000377127.3	-	1	635	c.577G>C	c.(577-579)Gtc>Ctc	p.V193L		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	193					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						AGGGTGCAGACAACATTAGAT	0.463																																					NSCLC(153;755 1987 3859 11251 32945)											0													68	59	62					6																	29455103		2203	4300	6503	SO:0001583	missense	116511			S78653	CCDS4661.1	6p22.1	2014-06-26	2014-06-26		ENSG00000204687	ENSG00000204687		"GPCR / Class A : Orphans"	13961	protein-coding gene	gene with protein product		607235	"MAS1 oncogene-like"				Standard	NM_052967		Approved	MAS-L, MRG, dJ994E9.2	uc011dlq.2	P35410	OTTHUMG00000031089	ENST00000377127.3:c.577G>C	chr6.hg19:g.29455103C>G	ENSP00000366331:p.Val193Leu		Q5SUN5	Missense_Mutation	SNP	ENST00000377127.3	hg19	CCDS4661.1	.	.	.	.	.	.	.	.	.	.	C	10.63	1.403256	0.25291	.	.	ENSG00000204687	ENST00000377127	T	0.34275	1.37	2.36	-1.09	0.09904	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.19208	0.0461	L	0.37800	1.135	0.09310	N	1	P	0.37500	0.597	P	0.51701	0.677	T	0.36720	-0.9736	9	0.51188	T	0.08	.	4.0133	0.09632	0.0:0.5369:0.1966:0.2665	.	193	P35410	MAS1L_HUMAN	L	193	ENSP00000366331:V193L	ENSP00000366331:V193L	V	-	1	0	MAS1L	29563082	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	0.056000	0.14256	-0.452000	0.07087	0.596000	0.82720	GTC		0.463	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076126.2	NM_052967		G	29455103	C	G	29455103	3	3	682	1	0	0	0	0	1	0	0	0	9323	478	17	4	561	4	MAS1L	6	29455103	Missense_Mutation	SNP	C	TCGA-IA-A83T-01A-11D-A34Z-10		29455103	141659964	14	37665											
CASP8AP2	9994	hgsc.bcm.edu	37	6	90573481	90573481	+	RNA	SNP	A	A	G			TCGA-IA-A83T-01A-11D-A34Z-10	TCGA-IA-A83T-11A-11D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	580ff01c-dd91-46ed-a426-7b2afea92207	cfd3629b-47b9-4934-86ab-9695c9f95668	g.chr6:90573481A>G	ENST00000551025.1	+	0	3490									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)		CCCATCTCCTATGGAAATACA	0.398																																					Colon(187;1656 2025 17045 31481 39901)											0													60	54	56					6																	90573481		1899	4122	6021			9994			AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"FLICE-associated huge protein"	606880	"CASP8 associated protein 2"			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		chr6.hg19:g.90573481A>G				Missense_Mutation	SNP	ENST00000551025.1	hg19																																																																																					0.398	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		NM_001137667		G	90573481	A	G	90573481	1	3	682	0	1	0	0	0	0	0	0	0	2680	449	16	3		3	CASP8AP2	6	90573481	RNA	SNP	A	TCGA-IA-A83T-01A-11D-A34Z-10	61118378	90573481	80541586	15	37666											
COQ3	51805	hgsc.bcm.edu	37	6	99817502	99817502	+	Missense_Mutation	SNP	C	C	A			TCGA-IA-A83T-01A-11D-A34Z-10	TCGA-IA-A83T-11A-11D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	580ff01c-dd91-46ed-a426-7b2afea92207	cfd3629b-47b9-4934-86ab-9695c9f95668	g.chr6:99817502C>A	ENST00000254759.3	-	7	1108	c.1084G>T	c.(1084-1086)Gct>Tct	p.A362S	COQ3_ENST00000369242.1_Missense_Mutation_p.A134S|COQ3_ENST00000369240.1_Missense_Mutation_p.A134S	NM_017421.3	NP_059117.3	Q9NZJ6	COQ3_HUMAN	coenzyme Q3 methyltransferase	362					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)		TCATGCACAGCTGGATTGGTG	0.393																																																0													136	141	139					6																	99817502		2203	4300	6503	SO:0001583	missense	51805			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.1084G>T	chr6.hg19:g.99817502C>A	ENSP00000254759:p.Ala362Ser		B3KPX0|Q5T061|Q6P4F0|Q8IXG6|Q96BG1|Q9H0N1	Missense_Mutation	SNP	ENST00000254759.3	hg19	CCDS5042.1	.	.	.	.	.	.	.	.	.	.	C	7.031	0.560676	0.13498	.	.	ENSG00000132423	ENST00000254759;ENST00000369242;ENST00000369240	T;T;T	0.28454	2.03;1.61;1.61	4.74	1.85	0.25348	.	1.012920	0.07926	N	0.976816	T	0.03053	0.0090	N	0.02011	-0.69	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.42682	-0.9437	10	0.25751	T	0.34	-28.7078	4.1853	0.10395	0.0:0.5306:0.1727:0.2967	.	362	Q9NZJ6	COQ3_HUMAN	S	362;134;134	ENSP00000254759:A362S;ENSP00000358245:A134S;ENSP00000358243:A134S	ENSP00000254759:A362S	A	-	1	0	COQ3	99924223	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.606000	0.05654	0.132000	0.18615	0.650000	0.86243	GCT		0.393	COQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041602.1	NM_017421		A	99817502	C	A	99817502	3	1	682	1	0	0	0	0	1	0	0	0	3748	797	28	4	29	4	COQ3	6	99817502	Missense_Mutation	SNP	C	TCGA-IA-A83T-01A-11D-A34Z-10	9244021	99817502	71297565	16	37667											
TNRC18	84629	hgsc.bcm.edu	37	7	5414035	5414035	+	Missense_Mutation	SNP	C	C	G			TCGA-IA-A83T-01A-11D-A34Z-10	TCGA-IA-A83T-11A-11D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	580ff01c-dd91-46ed-a426-7b2afea92207	cfd3629b-47b9-4934-86ab-9695c9f95668	g.chr7:5414035C>G	ENST00000430969.1	-	10	3228	c.2880G>C	c.(2878-2880)aaG>aaC	p.K960N	TNRC18_ENST00000399537.4_Missense_Mutation_p.K960N	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	960							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)		CCAGGCCAGCCTTGCCCGCAG	0.771																																																0													4	4	4					7																	5414035		1555	3371	4926	SO:0001583	missense	84629			U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"Trinucleotide (CAG) repeat containing"	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.2880G>C	chr7.hg19:g.5414035C>G	ENSP00000395538:p.Lys960Asn		A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	hg19	CCDS47534.1	.	.	.	.	.	.	.	.	.	.	C	4.254	0.046072	0.08243	.	.	ENSG00000182095	ENST00000399537;ENST00000430969;ENST00000399544;ENST00000327499	T;T	0.14022	2.54;2.54	5.34	-0.488	0.12056	.	.	.	.	.	T	0.28433	0.0703	M	0.66939	2.045	0.20307	N	0.999916	D	0.89917	1.0	D	0.85130	0.997	T	0.09618	-1.0666	9	0.87932	D	0	.	4.6366	0.12527	0.1483:0.4114:0.0:0.4403	.	960	O15417	TNC18_HUMAN	N	960;960;15;15	ENSP00000382452:K960N;ENSP00000395538:K960N	ENSP00000330383:K15N	K	-	3	2	TNRC18	5380561	0.986000	0.35501	0.689000	0.30133	0.036000	0.12997	0.120000	0.15647	-0.006000	0.14370	-0.224000	0.12420	AAG		0.771	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				G	5414035	C	G	5414035	3	3	682	1	0	0	0	0	1	0	0	0	16344	680	24	4	6110	4	TNRC18	7	5414035	Missense_Mutation	SNP	C	TCGA-IA-A83T-01A-11D-A34Z-10		5414035	153724628	17	37668											
VWC2	375567	hgsc.bcm.edu	37	7	49815638	49815638	+	Missense_Mutation	SNP	G	G	C			TCGA-IA-A83T-01A-11D-A34Z-10	TCGA-IA-A83T-11A-11D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	580ff01c-dd91-46ed-a426-7b2afea92207	cfd3629b-47b9-4934-86ab-9695c9f95668	g.chr7:49815638G>C	ENST00000340652.4	+	2	1163	c.607G>C	c.(607-609)Gac>Cac	p.D203H		NM_198570.3	NP_940972.2	Q2TAL6	VWC2_HUMAN	von Willebrand factor C domain containing 2	203	VWFC 1. {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						CATCCACGTCGACACGAGCCA	0.677																																																0													13	18	16					7																	49815638		2147	4233	6380	SO:0001583	missense	375567			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.607G>C	chr7.hg19:g.49815638G>C	ENSP00000341819:p.Asp203His		Q6UXE2	Missense_Mutation	SNP	ENST00000340652.4	hg19	CCDS5508.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.580112	0.86645	.	.	ENSG00000188730	ENST00000340652	T	0.13778	2.56	4.81	4.81	0.61882	von Willebrand factor, type C (1);	0.000000	0.85682	D	0.000000	T	0.22085	0.0532	N	0.14661	0.345	0.58432	D	0.999998	D	0.67145	0.996	D	0.70016	0.967	T	0.13629	-1.0502	10	0.41790	T	0.15	.	18.301	0.90163	0.0:0.0:1.0:0.0	.	203	Q2TAL6	VWC2_HUMAN	H	203	ENSP00000341819:D203H	ENSP00000341819:D203H	D	+	1	0	VWC2	49786184	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.595000	0.98260	2.379000	0.81126	0.555000	0.69702	GAC		0.677	VWC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251375.2	NM_198570		C	49815638	G	C	49815638	3	2	682	1	0	0	0	0	1	0	0	0	17248	1058	37	4	609	4	VWC2	7	49815638	Missense_Mutation	SNP	G	TCGA-IA-A83T-01A-11D-A34Z-10	44401603	49815638	109323025	18	37669											
FAM83A	84985	hgsc.bcm.edu	37	8	124206353	124206353	+	Silent	SNP	C	C	T			TCGA-IA-A83T-01A-11D-A34Z-10	TCGA-IA-A83T-11A-11D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	580ff01c-dd91-46ed-a426-7b2afea92207	cfd3629b-47b9-4934-86ab-9695c9f95668	g.chr8:124206353C>T	ENST00000518448.1	+	4	2752	c.738C>T	c.(736-738)atC>atT	p.I246I	FAM83A_ENST00000546351.1_Silent_p.I190I|FAM83A_ENST00000536633.1_Silent_p.I246I|FAM83A_ENST00000318462.6_Silent_p.I246I|FAM83A_ENST00000276699.6_Silent_p.I246I|FAM83A_ENST00000522648.1_Silent_p.I190I			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	246										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			AGTTCATCATCTCGGACTGGA	0.507																																																0													138	119	126					8																	124206353		2203	4300	6503	SO:0001819	synonymous_variant	84985			BC052300	CCDS6339.1, CCDS6340.1, CCDS75784.1	8q24.13	2014-03-13			ENSG00000147689	ENSG00000147689			28210	protein-coding gene	gene with protein product						22886303	Standard	XM_005251087		Approved	MGC14128, BJ-TSA-9	uc003ypx.3	Q86UY5	OTTHUMG00000165083	ENST00000518448.1:c.738C>T	chr8.hg19:g.124206353C>T			Q71HL2|Q8N7I1|Q96I47	Silent	SNP	ENST00000518448.1	hg19	CCDS6340.1																																																																																				0.507	FAM83A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381737.1	NM_032899		T	124206353	C	T	124206353	2	4	682	1	0	0	0	0	0	0	0	1	5635	903	32	2		2	FAM83A	8	124206353	Silent	SNP	C	TCGA-IA-A83T-01A-11D-A34Z-10		124206353	22157669	19	37670											
HNRNPH3	3189	hgsc.bcm.edu	37	10	70098907	70098907	+	Silent	SNP	T	T	C			TCGA-IA-A83T-01A-11D-A34Z-10	TCGA-IA-A83T-11A-11D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	580ff01c-dd91-46ed-a426-7b2afea92207	cfd3629b-47b9-4934-86ab-9695c9f95668	g.chr10:70098907T>C	ENST00000265866.7	+	5	612	c.447T>C	c.(445-447)ggT>ggC	p.G149G	HNRNPH3_ENST00000469172.1_3'UTR|HNRNPH3_ENST00000354695.5_Silent_p.G134G|HNRNPH3_ENST00000441000.2_Silent_p.G41G	NM_012207.2|NM_021644.3	NP_036339.1|NP_067676.2	P31942	HNRH3_HUMAN	heterogeneous nuclear ribonucleoprotein H3 (2H9)	149	Gly-rich.				epithelial cell differentiation (GO:0030855)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)	11						GTTATGGAGGTTTTGATGACT	0.318																																																0													135	145	142					10																	70098907		2203	4300	6503	SO:0001819	synonymous_variant	3189				CCDS7278.1, CCDS7279.1	10q22	2013-02-12		2008-04-18	ENSG00000096746	ENSG00000096746		"RNA binding motif (RRM) containing"	5043	protein-coding gene	gene with protein product		602324		HNRPH3		8999868	Standard	NM_021644		Approved	2H9	uc001jnw.4	P31942	OTTHUMG00000018349	ENST00000265866.7:c.447T>C	chr10.hg19:g.70098907T>C			A8K682|B3KRE1|Q9BSX1|Q9NP53|Q9NP96|Q9NPA7|Q9NPI4|Q9UFU4|Q9Y4J5	Silent	SNP	ENST00000265866.7	hg19	CCDS7278.1																																																																																				0.318	HNRNPH3-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090165.1			C	70098907	T	C	70098907	2	2	682	1	0	0	0	0	0	0	0	1	7270	1712	60	3		3	HNRNPH3	10	70098907	Silent	SNP	T	TCGA-IA-A83T-01A-11D-A34Z-10		70098907	65435840	20	37671											
PLAC9	219348	hgsc.bcm.edu	37	10	81901918	81901918	+	Missense_Mutation	SNP	C	C	G			TCGA-IA-A83T-01A-11D-A34Z-10	TCGA-IA-A83T-11A-11D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	580ff01c-dd91-46ed-a426-7b2afea92207	cfd3629b-47b9-4934-86ab-9695c9f95668	g.chr10:81901918C>G	ENST00000372263.3	+	2	187	c.145C>G	c.(145-147)Cta>Gta	p.L49V	PLAC9_ENST00000372270.2_Missense_Mutation_p.L7V|PLAC9_ENST00000372267.2_Missense_Mutation_p.L49V	NM_001012973.1	NP_001012991.1	Q5JTB6	PLAC9_HUMAN	placenta-specific 9	49						extracellular region (GO:0005576)				kidney(1)|ovary(1)	2	Prostate(51;0.0095)|all_epithelial(25;0.175)		Colorectal(32;0.109)			GCAACGCCGTCTAGATGTCAT	0.537																																																0													128	89	102					10																	81901918		2203	4300	6503	SO:0001583	missense	219348				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.145C>G	chr10.hg19:g.81901918C>G	ENSP00000361337:p.Leu49Val			Missense_Mutation	SNP	ENST00000372263.3	hg19	CCDS31232.1	.	.	.	.	.	.	.	.	.	.	C	2.210	-0.380998	0.05000	.	.	ENSG00000189129	ENST00000372270;ENST00000372267;ENST00000372263	.	.	.	3.74	0.113	0.14631	.	0.000000	0.31404	N	0.007712	T	0.54822	0.1882	.	.	.	0.09310	N	1	D	0.67145	0.996	D	0.79108	0.992	T	0.43015	-0.9417	8	0.66056	D	0.02	.	5.8715	0.18807	0.0:0.4521:0.0:0.5479	.	49	Q5JTB6	PLAC9_HUMAN	V	7;49;49	.	ENSP00000361337:L49V	L	+	1	2	PLAC9	81891898	0.003000	0.15002	0.001000	0.08648	0.033000	0.12548	0.053000	0.14184	0.011000	0.14865	0.537000	0.68136	CTA		0.537	PLAC9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049019.1	NM_001012973		G	81901918	C	G	81901918	3	3	682	1	0	0	0	0	1	0	0	0	12019	912	32	4	151	4	PLAC9	10	81901918	Missense_Mutation	SNP	C	TCGA-IA-A83T-01A-11D-A34Z-10	11803011	81901918	53632829	21	37672											
SORCS1	114815	hgsc.bcm.edu	37	10	108427453	108427453	+	Missense_Mutation	SNP	C	C	A			TCGA-IA-A83T-01A-11D-A34Z-10	TCGA-IA-A83T-11A-11D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	580ff01c-dd91-46ed-a426-7b2afea92207	cfd3629b-47b9-4934-86ab-9695c9f95668	g.chr10:108427453C>A	ENST00000263054.6	-	17	2304	c.2297G>T	c.(2296-2298)aGt>aTt	p.S766I	SORCS1_ENST00000369698.1_Missense_Mutation_p.S301I|SORCS1_ENST00000344440.6_Missense_Mutation_p.S766I	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	766					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			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)		TTACCCAGTACTATTGAGGTA	0.488																																																0													74	65	68					10																	108427453		2203	4300	6503	SO:0001583	missense	114815			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.2297G>T	chr10.hg19:g.108427453C>A	ENSP00000263054:p.Ser766Ile		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	hg19	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.240052	0.79912	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	T;T;T	0.27557	1.66;2.23;2.23	5.49	5.49	0.81192	VPS10 (1);	0.051681	0.85682	D	0.000000	T	0.63355	0.2504	M	0.87180	2.865	0.51233	D	0.999919	D;D;D;D;D	0.71674	0.994;0.998;0.998;0.997;0.998	D;D;D;D;D	0.76575	0.924;0.988;0.988;0.957;0.988	T	0.66952	-0.5793	9	.	.	.	-17.8618	19.7394	0.96219	0.0:1.0:0.0:0.0	.	766;766;766;766;766	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	I	301;766;766	ENSP00000358712:S301I;ENSP00000263054:S766I;ENSP00000345964:S766I	.	S	-	2	0	SORCS1	108417443	1.000000	0.71417	0.990000	0.47175	0.838000	0.47535	4.588000	0.60999	2.745000	0.94114	0.462000	0.41574	AGT		0.488	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		A	108427453	C	A	108427453	3	1	682	1	0	0	0	0	1	0	0	0	14936	565	20	4	1483	4	SORCS1	10	108427453	Missense_Mutation	SNP	C	TCGA-IA-A83T-01A-11D-A34Z-10	26525535	108427453	27107294	22	37673											
CSTF3	1479	hgsc.bcm.edu	37	11	33163206	33163206	+	Intron	SNP	T	T	C			TCGA-IA-A83T-01A-11D-A34Z-10	TCGA-IA-A83T-11A-11D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	580ff01c-dd91-46ed-a426-7b2afea92207	cfd3629b-47b9-4934-86ab-9695c9f95668	g.chr11:33163206T>C	ENST00000323959.4	-	3	365				CSTF3_ENST00000438862.2_Missense_Mutation_p.I78V|CSTF3_ENST00000526480.1_Intron|CSTF3_ENST00000524827.1_Intron|CSTF3_ENST00000431742.2_3'UTR	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa						gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						TAAAATAAAATAGTAACCTCT	0.373																																																0													41	40	40					11																	33163206		2202	4298	6500	SO:0001627	intron_variant	1479			U15782	CCDS7883.1, CCDS44563.1, CCDS44564.1	11p13	2007-01-05	2002-08-29		ENSG00000176102	ENSG00000176102			2485	protein-coding gene	gene with protein product		600367	"cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kD"			7984242	Standard	XM_006718154		Approved	CstF-77	uc001muh.3	Q12996	OTTHUMG00000166268	ENST00000323959.4:c.225+6A>G	chr11.hg19:g.33163206T>C			A8K471|D3DR04|E9PB40|Q32P22|Q96FQ8|Q96QD6|Q96QK4	Missense_Mutation	SNP	ENST00000323959.4	hg19	CCDS7883.1	.	.	.	.	.	.	.	.	.	.	T	11.38	1.621909	0.28889	.	.	ENSG00000176102	ENST00000438862	T	0.33654	1.4	5.34	2.87	0.33458	.	.	.	.	.	T	0.20820	0.0501	.	.	.	0.80722	D	1	B	0.09022	0.002	B	0.10450	0.005	T	0.04946	-1.0916	8	0.16896	T	0.51	.	7.5882	0.28006	0.1261:0.0714:0.0:0.8025	.	78	Q96QK4	.	V	78	ENSP00000388711:I78V	ENSP00000388711:I78V	I	-	1	0	CSTF3	33119782	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.006000	0.70724	0.971000	0.38288	0.528000	0.53228	ATT		0.373	CSTF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388801.1	NM_001326		C	33163206	T	C	33163206	1	2	682	0	1	0	0	0	0	0	0	0	3988	1406	49	3		3	CSTF3	11	33163206	Intron	SNP	T	TCGA-IA-A83T-01A-11D-A34Z-10		33163206	101843310	23	37674											
C11orf94	143678	hgsc.bcm.edu	37	11	45928455	45928456	+	Frame_Shift_Ins	INS	-	-	G			TCGA-IA-A83T-01A-11D-A34Z-10	TCGA-IA-A83T-11A-11D-A34Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	580ff01c-dd91-46ed-a426-7b2afea92207	cfd3629b-47b9-4934-86ab-9695c9f95668	g.chr11:45928455_45928456insG	ENST00000449465.1	-	2	175_176	c.139_140insC	c.(139-141)ctgfs	p.L47fs	RP11-618K13.2_ENST00000533218.1_RNA	NM_001080446.2	NP_001073915.2	C9JXX5	CK094_HUMAN	chromosome 11 open reading frame 94	47						extracellular region (GO:0005576)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|ovary(1)|pancreas(1)|prostate(1)	7						CGAGAGTTCCAGGGGGGCGGAA	0.619																																																0																																										SO:0001589	frameshift_variant	143678				CCDS44577.1	11p11.2	2012-08-10			ENSG00000234776	ENSG00000234776			37213	protein-coding gene	gene with protein product							Standard	NM_001080446		Approved		uc001nbs.4	C9JXX5	OTTHUMG00000167004	ENST00000449465.1:c.140dupC	chr11.hg19:g.45928461_45928461dupG	ENSP00000401498:p.Leu47fs			Frame_Shift_Ins	INS	ENST00000449465.1	hg19	CCDS44577.1																																																																																				0.619	C11orf94-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392395.1	NM_001080446		G	45928456	-	G	45928455	7	5	682	1	0	1	1	0	0	0	0	0	1675	188	7	0	164	0	C11orf94	11	45928455	Frame_Shift_Ins	INS	-	TCGA-IA-A83T-01A-11D-A34Z-10	12765249	45928455	89078061	24	37675											
GLYATL1	92292	hgsc.bcm.edu	37	11	58723454	58723454	+	Missense_Mutation	SNP	A	A	G			TCGA-IA-A83T-01A-11D-A34Z-10	TCGA-IA-A83T-11A-11D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	580ff01c-dd91-46ed-a426-7b2afea92207	cfd3629b-47b9-4934-86ab-9695c9f95668	g.chr11:58723454A>G	ENST00000317391.4	+	8	1203	c.863A>G	c.(862-864)gAg>gGg	p.E288G	GLYATL1_ENST00000300079.5_Missense_Mutation_p.E319G|RP11-142C4.6_ENST00000533954.1_RNA|RP11-142C4.6_ENST00000525714.1_RNA	NM_001220494.1	NP_001207423.1	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	288						mitochondrion (GO:0005739)	glutamine N-acyltransferase activity (GO:0047946)|glycine N-acyltransferase activity (GO:0047961)			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	GCCTCCTGTGAGTGGCACCAA	0.428																																																0													64	65	65					11																	58723454		2200	4295	6495	SO:0001583	missense	92292			AK091965	CCDS31556.1, CCDS55768.1	11q12.1	2014-08-12			ENSG00000166840	ENSG00000166840			30519	protein-coding gene	gene with protein product		614761				12477932	Standard	NM_080661		Approved	MGC15397, FLJ34646	uc001nnh.2	Q969I3	OTTHUMG00000167221	ENST00000317391.4:c.863A>G	chr11.hg19:g.58723454A>G	ENSP00000322223:p.Glu288Gly		A6NDT0|Q7Z510|Q8NAW8	Missense_Mutation	SNP	ENST00000317391.4	hg19	CCDS55768.1	.	.	.	.	.	.	.	.	.	.	.	0.007	-2.002586	0.00431	.	.	ENSG00000166840	ENST00000444580;ENST00000317391;ENST00000300079	T;T	0.16743	2.32;2.32	1.97	-3.94	0.04130	Acyl-CoA N-acyltransferase (1);Glycine N-acyltransferase, C-terminal (1);	1.211330	0.06583	N	0.750716	T	0.04318	0.0119	N	0.01352	-0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.34950	-0.9808	10	0.18276	T	0.48	.	2.9615	0.05894	0.5318:0.0:0.2621:0.2061	.	319;288	Q969I3-2;Q969I3	.;GLYL1_HUMAN	G	265;288;319	ENSP00000322223:E288G;ENSP00000300079:E319G	ENSP00000300079:E319G	E	+	2	0	GLYATL1	58480030	0.000000	0.05858	0.000000	0.03702	0.081000	0.17604	-1.929000	0.01558	-1.331000	0.02252	-0.526000	0.04340	GAG		0.428	GLYATL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393783.1	NM_080661		G	58723454	A	G	58723454	3	3	682	1	0	0	0	0	1	0	0	0	6482	304	11	3	982	3	GLYATL1	11	58723454	Missense_Mutation	SNP	A	TCGA-IA-A83T-01A-11D-A34Z-10	12794999	58723454	76283062	25	37676											
MS4A8B	83661	hgsc.bcm.edu	37	11	60470856	60470856	+	Silent	SNP	C	C	A			TCGA-IA-A83T-01A-11D-A34Z-10	TCGA-IA-A83T-11A-11D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	580ff01c-dd91-46ed-a426-7b2afea92207	cfd3629b-47b9-4934-86ab-9695c9f95668	g.chr11:60470856C>A	ENST00000300226.2	+	3	428	c.225C>A	c.(223-225)atC>atA	p.I75I		NM_031457.1	NP_113645.1	Q9BY19	M4A8_HUMAN	membrane-spanning 4-domains, subfamily A, member 8	75						integral component of membrane (GO:0016021)											GACAGGCCATCCAGATCATCA	0.493																																																0													100	92	95					11																	60470856		2203	4300	6503	SO:0001819	synonymous_variant	83661			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.225C>A	chr11.hg19:g.60470856C>A			Q8TCA5	Silent	SNP	ENST00000300226.2	hg19	CCDS7990.1	.	.	.	.	.	.	.	.	.	.	C	3.360	-0.130637	0.06753	.	.	ENSG00000166959	ENST00000525458	.	.	.	3.62	1.56	0.23342	.	.	.	.	.	T	0.58133	0.2101	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50533	-0.8817	4	.	.	.	-2.4498	9.6989	0.40173	0.0:0.5864:0.4136:0.0	.	.	.	.	Y	57	.	.	S	+	2	0	MS4A8B	60227432	0.962000	0.33011	0.728000	0.30774	0.348000	0.29142	0.877000	0.28106	0.123000	0.18342	0.491000	0.48974	TCC		0.493	MS4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395605.1			A	60470856	C	A	60470856	2	1	682	1	0	0	0	0	0	0	0	1	9869	845	30	4		4	MS4A8B	11	60470856	Silent	SNP	C	TCGA-IA-A83T-01A-11D-A34Z-10	1747402	60470856	74535660	26	37677											
TMEM134	80194	hgsc.bcm.edu	37	11	67232160	67232160	+	Silent	SNP	G	G	A			TCGA-IA-A83T-01A-11D-A34Z-10	TCGA-IA-A83T-11A-11D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	580ff01c-dd91-46ed-a426-7b2afea92207	cfd3629b-47b9-4934-86ab-9695c9f95668	g.chr11:67232160G>A	ENST00000308022.2	-	7	554	c.513C>T	c.(511-513)caC>caT	p.H171H	CTC-1337H24.2_ENST00000602944.1_lincRNA|TMEM134_ENST00000541059.1_5'UTR|TMEM134_ENST00000393877.3_Silent_p.H156H	NM_001078651.1|NM_025124.2	NP_001072119.1|NP_079400.1	Q9H6X4	TM134_HUMAN	transmembrane protein 134	171						integral component of membrane (GO:0016021)				endometrium(1)|lung(1)	2						TGAAGATCACGTGATAGACTG	0.697																																																0													22	25	24					11																	67232160		2121	4143	6264	SO:0001819	synonymous_variant	80194			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.513C>T	chr11.hg19:g.67232160G>A			Q08AK4|Q6PJN3	Silent	SNP	ENST00000308022.2	hg19	CCDS8167.1																																																																																				0.697	TMEM134-020	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398994.1	NM_025124		A	67232160	G	A	67232160	2	1	682	1	0	0	0	0	0	0	0	1	16055	1136	40	1		1	TMEM134	11	67232160	Silent	SNP	G	TCGA-IA-A83T-01A-11D-A34Z-10	6761304	67232160	67774356	27	37678											
KRTAP5-7	440050	hgsc.bcm.edu	37	11	71238734	71238760	+	In_Frame_Del	DEL	TGCTGCTGTTCCTCAGGCTGTGGGTCA	TGCTGCTGTTCCTCAGGCTGTGGGTCA	-	rs533945918|rs79842834	byFrequency	TCGA-IA-A83T-01A-11D-A34Z-10	TCGA-IA-A83T-11A-11D-A34Z-10	TGCTGCTGTTCCTCAGGCTGTGGGTCA	TGCTGCTGTTCCTCAGGCTGTGGGTCA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	580ff01c-dd91-46ed-a426-7b2afea92207	cfd3629b-47b9-4934-86ab-9695c9f95668	g.chr11:71238734_71238760delTGCTGCTGTTCCTCAGGCTGTGGGTCA	ENST00000398536.4	+	1	422_448	c.388_414delTGCTGCTGTTCCTCAGGCTGTGGGTCA	c.(388-414)tgctgctgttcctcaggctgtgggtcadel	p.CCCSSGCGS130del		NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	130	7 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)		p.G137W(1)		breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						ctgtaagccctgctgctgttcctcaggctgtgggtcatcctgctgcc	0.604																																																1	Substitution - Missense(1)	lung(1)																																								SO:0001651	inframe_deletion	440050			AB126076	CCDS41682.1	11q13.4	2008-02-05			ENSG00000244411	ENSG00000244411		"Keratin associated proteins"	23602	protein-coding gene	gene with protein product						15144888	Standard	NM_001012503		Approved	KRTAP5.7, KRTAP5-3	uc001oqq.1	Q6L8G8	OTTHUMG00000057570	ENST00000398536.4:c.388_414delTGCTGCTGTTCCTCAGGCTGTGGGTCA	chr11.hg19:g.71238734_71238760delTGCTGCTGTTCCTCAGGCTGTGGGTCA	ENSP00000417330:p.Cys130_Ser138del		B2RNM3|Q701N5	In_Frame_Del	DEL	ENST00000398536.4	hg19	CCDS41682.1																																																																																				0.604	KRTAP5-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127953.1			-	71238760	TGCTGCTGTTCCTCAGGCTGTGGGTCA	-	71238734	7	5	682	1	0	1	0	1	0	0	0	0	8568	1580	55	0	390	0	KRTAP5-7	11	71238734	In_Frame_Del	DEL	TGCTGCTGTTCCTCAGGCTGTGGGTCA	TCGA-IA-A83T-01A-11D-A34Z-10	4006574	71238734	63767782	28	37679											
ITPR2	3709	hgsc.bcm.edu	37	12	26639109	26639109	+	Silent	SNP	G	G	C			TCGA-IA-A83T-01A-11D-A34Z-10	TCGA-IA-A83T-11A-11D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	580ff01c-dd91-46ed-a426-7b2afea92207	cfd3629b-47b9-4934-86ab-9695c9f95668	g.chr12:26639109G>C	ENST00000381340.3	-	41	6155	c.5739C>G	c.(5737-5739)ccC>ccG	p.P1913P		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1913					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)	p.P1913P(2)	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)	TGGCAATTGCGGGACTCATTG	0.428																																																2	Substitution - coding silent(2)	lung(1)|kidney(1)											226	213	217					12																	26639109		1915	4130	6045	SO:0001819	synonymous_variant	3709			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.5739C>G	chr12.hg19:g.26639109G>C			O94773	Silent	SNP	ENST00000381340.3	hg19	CCDS41764.1																																																																																				0.428	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		C	26639109	G	C	26639109	2	2	682	1	0	0	0	0	0	0	0	1	7923	1103	39	4		4	ITPR2	12	26639109	Silent	SNP	G	TCGA-IA-A83T-01A-11D-A34Z-10		26639109	107212786	29	37680											
KRT72	140807	hgsc.bcm.edu	37	12	52981529	52981549	+	In_Frame_Del	DEL	GCCTGGTGCAGGGCGCCCTCC	GCCTGGTGCAGGGCGCCCTCC	-	rs145882334	byFrequency	TCGA-IA-A83T-01A-11D-A34Z-10	TCGA-IA-A83T-11A-11D-A34Z-10	GCCTGGTGCAGGGCGCCCTCC	GCCTGGTGCAGGGCGCCCTCC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	580ff01c-dd91-46ed-a426-7b2afea92207	cfd3629b-47b9-4934-86ab-9695c9f95668	g.chr12:52981529_52981549delGCCTGGTGCAGGGCGCCCTCC	ENST00000537672.2	-	7	1186_1206	c.1176_1196delGGAGGGCGCCCTGCACCAGGC	c.(1174-1197)ctggagggcgccctgcaccaggcc>ctc	p.EGALHQA393del	KRT72_ENST00000354310.4_In_Frame_Del_p.EGALHQA351del|KRT72_ENST00000293745.2_In_Frame_Del_p.EGALHQA393del|KRT72_ENST00000398066.3_In_Frame_Del_p.EGALHQA205del	NM_001146225.1	NP_001139697.1	Q14CN4	K2C72_HUMAN	keratin 72	393	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		CTCCTCCTTGGCCTGGTGCAGGGCGCCCTCCAGCTCATCCA	0.652																																																0																																										SO:0001651	inframe_deletion	140807			AY033495	CCDS8833.1, CCDS53795.1	12q13.13	2013-06-25			ENSG00000170486	ENSG00000170486		"-", "Intermediate filaments type II, keratins (basic)"	28932	protein-coding gene	gene with protein product		608246				12648212, 11703281, 16831889	Standard	NM_080747		Approved	K6IRS2, KRT6IRS2, KRT6, K6irs	uc001saq.2	Q14CN4	OTTHUMG00000169744	ENST00000537672.2:c.1176_1196delGGAGGGCGCCCTGCACCAGGC	chr12.hg19:g.52981529_52981549delGCCTGGTGCAGGGCGCCCTCC	ENSP00000441160:p.Glu393_Ala399del		B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0	In_Frame_Del	DEL	ENST00000537672.2	hg19	CCDS8833.1																																																																																				0.652	KRT72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405693.1	NM_080747		-	52981549	GCCTGGTGCAGGGCGCCCTCC	-	52981529	7	5	682	1	0	1	0	1	0	0	0	0	8487	1203	42	0	351	0	KRT72	12	52981529	In_Frame_Del	DEL	GCCTGGTGCAGGGCGCCCTCC	TCGA-IA-A83T-01A-11D-A34Z-10	26342420	52981529	80870366	30	37681											
USP30	84749	hgsc.bcm.edu	37	12	109520853	109520853	+	Missense_Mutation	SNP	G	G	A			TCGA-IA-A83T-01A-11D-A34Z-10	TCGA-IA-A83T-11A-11D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	580ff01c-dd91-46ed-a426-7b2afea92207	cfd3629b-47b9-4934-86ab-9695c9f95668	g.chr12:109520853G>A	ENST00000257548.5	+	11	1247	c.1154G>A	c.(1153-1155)gGa>gAa	p.G385E	USP30_ENST00000392784.2_Missense_Mutation_p.G354E	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	385	USP.				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						GATGGGCCGGGAGCCCCCACA	0.542																																																0													52	47	49					12																	109520853		2203	4300	6503	SO:0001583	missense	84749			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.1154G>A	chr12.hg19:g.109520853G>A	ENSP00000257548:p.Gly385Glu		Q8WTU7|Q96JX4|Q9BSS3	Missense_Mutation	SNP	ENST00000257548.5	hg19	CCDS9123.2	.	.	.	.	.	.	.	.	.	.	G	3.397	-0.122993	0.06795	.	.	ENSG00000135093	ENST00000392784;ENST00000257548	T;T	0.31247	1.51;1.5	4.91	4.01	0.46588	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.781706	0.12074	N	0.501919	T	0.12092	0.0294	N	0.00621	-1.32	0.09310	N	1	B;B	0.19073	0.033;0.0	B;B	0.23852	0.049;0.0	T	0.25950	-1.0117	10	0.41790	T	0.15	-0.8916	12.7132	0.57102	0.0:0.8311:0.1689:0.0	.	385;354	Q70CQ3;B3KUS5	UBP30_HUMAN;.	E	354;385	ENSP00000376535:G354E;ENSP00000257548:G385E	ENSP00000257548:G385E	G	+	2	0	USP30	108005236	0.005000	0.15991	0.003000	0.11579	0.009000	0.06853	1.864000	0.39469	1.208000	0.43306	-0.270000	0.10280	GGA		0.542	USP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257733.2	NM_032663		A	109520853	G	A	109520853	3	1	682	1	0	0	0	0	1	0	0	0	17066	1174	41	2	1196	2	USP30	12	109520853	Missense_Mutation	SNP	G	TCGA-IA-A83T-01A-11D-A34Z-10	56539324	109520853	24331042	31	37682											
FLT3	2322	hgsc.bcm.edu	37	13	28624244	28624244	+	Missense_Mutation	SNP	G	G	C			TCGA-IA-A83T-01A-11D-A34Z-10	TCGA-IA-A83T-11A-11D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	580ff01c-dd91-46ed-a426-7b2afea92207	cfd3629b-47b9-4934-86ab-9695c9f95668	g.chr13:28624244G>C	ENST00000241453.7	-	6	811	c.730C>G	c.(730-732)Ctg>Gtg	p.L244V	FLT3_ENST00000380982.4_Missense_Mutation_p.L244V|FLT3_ENST00000537084.1_Missense_Mutation_p.L244V	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	244					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)	ATTGTGAACAGCCTGGTGCAT	0.423			"Mis, O"		"AML, ALL"																																		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	0													170	147	155					13																	28624244		2203	4300	6503	SO:0001583	missense	2322			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.730C>G	chr13.hg19:g.28624244G>C	ENSP00000241453:p.Leu244Val		A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	ENST00000241453.7	hg19	CCDS31953.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.562109	0.45590	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	T;T;T	0.77489	-1.03;-1.1;-0.84	5.64	5.64	0.86602	.	0.000000	0.53938	D	0.000047	T	0.74397	0.3711	L	0.29908	0.895	0.43118	D	0.994837	P;P	0.49358	0.923;0.521	P;B	0.48189	0.57;0.246	T	0.72730	-0.4205	10	0.30078	T	0.28	.	17.8943	0.88881	0.0:0.0:1.0:0.0	.	244;244	P36888-2;P36888	.;FLT3_HUMAN	V	244	ENSP00000241453:L244V;ENSP00000370369:L244V;ENSP00000438139:L244V	ENSP00000241453:L244V	L	-	1	2	FLT3	27522244	1.000000	0.71417	1.000000	0.80357	0.448000	0.32197	4.617000	0.61204	2.655000	0.90218	0.462000	0.41574	CTG		0.423	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2			C	28624244	G	C	28624244	3	2	682	1	0	0	0	0	1	0	0	0	5944	962	34	4	2327	4	FLT3	13	28624244	Missense_Mutation	SNP	G	TCGA-IA-A83T-01A-11D-A34Z-10		28624244	86545634	32	37683											
G2E3	55632	hgsc.bcm.edu	37	14	31061654	31061654	+	Splice_Site	SNP	G	G	C			TCGA-IA-A83T-01A-11D-A34Z-10	TCGA-IA-A83T-11A-11D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	580ff01c-dd91-46ed-a426-7b2afea92207	cfd3629b-47b9-4934-86ab-9695c9f95668	g.chr14:31061654G>C	ENST00000206595.6	+	5	516		c.e5+1		G2E3_ENST00000544007.1_Splice_Site|G2E3_ENST00000553504.1_Splice_Site|G2E3_ENST00000438909.2_Splice_Site	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase						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						GCAATTTTGCGTGAGTTATTT	0.333																																																0													89	86	87					14																	31061654		2203	4299	6502	SO:0001630	splice_region_variant	55632			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.362+1G>C	chr14.hg19:g.31061654G>C			Q9BVR2|Q9H9E9|Q9NXC0|Q9P2L3	Splice_Site	SNP	ENST00000206595.6	hg19	CCDS9638.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.039163	0.75617	.	.	ENSG00000092140	ENST00000206595;ENST00000438909;ENST00000553504;ENST00000554714;ENST00000547532	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.091	0.97817	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	G2E3	30131405	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.206000	0.89745	2.755000	0.94549	0.591000	0.81541	.		0.333	G2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276613.2	NM_017769	Intron	C	31061654	G	C	31061654	5	2	682	1	0	0	0	0	0	0	1	0	6142	1159	40	4	377	4	G2E3	14	31061654	Splice_Site	SNP	G	TCGA-IA-A83T-01A-11D-A34Z-10		31061654	76287886	33	37684											
C14orf145	145508	hgsc.bcm.edu	37	14	81297497	81297497	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IA-A83T-01A-11D-A34Z-10	TCGA-IA-A83T-11A-11D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	580ff01c-dd91-46ed-a426-7b2afea92207	cfd3629b-47b9-4934-86ab-9695c9f95668	g.chr14:81297497G>T	ENST00000555265.1	-	13	1574	c.1199C>A	c.(1198-1200)tCa>tAa	p.S400*	CEP128_ENST00000281129.3_Nonsense_Mutation_p.S400*|CEP128_ENST00000216517.6_Nonsense_Mutation_p.S400*			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	400						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						CTCTACTTGTGATGCCAAATG	0.353																																																0													218	197	204					14																	81297497		2203	4300	6503	SO:0001587	stop_gained	145508			AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 61", "chromosome 14 open reading frame 145"	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.1199C>A	chr14.hg19:g.81297497G>T	ENSP00000451162:p.Ser400*		B9EK52|Q86X97|Q96ML4	Nonsense_Mutation	SNP	ENST00000555265.1	hg19	CCDS32130.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	7.102862|7.102862	0.98066|0.98066	.|.	.|.	ENSG00000100629|ENSG00000100629	ENST00000554827|ENST00000281129;ENST00000555265;ENST00000393619;ENST00000216517	.|.	.|.	.|.	5.63|5.63	1.13|1.13	0.20643|0.20643	.|.	.|0.827576	.|0.10699	.|N	.|0.644299	T|.	0.30262|.	0.0759|.	.|.	.|.	.|.	0.53688|0.53688	D|D	0.999978|0.999978	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.17806|.	-1.0357|.	4|.	.|0.10636	.|T	.|0.68	.|.	1.9124|1.9124	0.03290|0.03290	0.2577:0.1381:0.4636:0.1406|0.2577:0.1381:0.4636:0.1406	.|.	.|.	.|.	.|.	N|X	279|400	.|.	.|ENSP00000216517:S400X	H|S	-|-	1|2	0|0	CEP128|CEP128	80367250|80367250	0.003000|0.003000	0.15002|0.15002	0.902000|0.902000	0.35471|0.35471	0.661000|0.661000	0.39034|0.39034	0.429000|0.429000	0.21412|0.21412	0.331000|0.331000	0.23511|0.23511	-0.282000|-0.282000	0.10007|0.10007	CAC|TCA		0.353	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413415.1	NM_152446		T	81297497	G	T	81297497	4	4	682	1	0	0	0	0	0	1	0	0	1751	1294	45	4	2137	4	C14orf145	14	81297497	Nonsense_Mutation	SNP	G	TCGA-IA-A83T-01A-11D-A34Z-10	50235843	81297497	26052043	34	37685											
FAM181A	90050	hgsc.bcm.edu	37	14	94395093	94395093	+	Silent	SNP	G	G	A			TCGA-IA-A83T-01A-11D-A34Z-10	TCGA-IA-A83T-11A-11D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	580ff01c-dd91-46ed-a426-7b2afea92207	cfd3629b-47b9-4934-86ab-9695c9f95668	g.chr14:94395093G>A	ENST00000267594.5	+	3	955	c.648G>A	c.(646-648)gaG>gaA	p.E216E	FAM181A_ENST00000557000.2_Silent_p.E154E|FAM181A_ENST00000556222.1_Silent_p.E154E|FAM181A_ENST00000557719.1_Silent_p.E154E|FAM181A-AS1_ENST00000554742.1_RNA	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	216										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						TGGGGCTGGAGGGGGGACTGG	0.622																																																0													25	30	28					14																	94395093		2203	4299	6502	SO:0001819	synonymous_variant	90050			BC009073	CCDS9914.1, CCDS55939.1	14q32.12	2011-11-30	2008-07-22	2008-07-22	ENSG00000140067	ENSG00000140067			20491	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 152"	C14orf152			Standard	NM_138344		Approved		uc021saz.1	Q8N9Y4	OTTHUMG00000171297	ENST00000267594.5:c.648G>A	chr14.hg19:g.94395093G>A			B2RD39|Q96GY1	Silent	SNP	ENST00000267594.5	hg19	CCDS9914.1																																																																																				0.622	FAM181A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412840.1	NM_138344		A	94395093	G	A	94395093	2	1	682	1	0	0	0	0	0	0	0	1	5510	991	35	2		2	FAM181A	14	94395093	Silent	SNP	G	TCGA-IA-A83T-01A-11D-A34Z-10	13097596	94395093	12954447	35	37686											
ZNF839	55778	hgsc.bcm.edu	37	14	102805492	102805492	+	Missense_Mutation	SNP	C	C	A			TCGA-IA-A83T-01A-11D-A34Z-10	TCGA-IA-A83T-11A-11D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	580ff01c-dd91-46ed-a426-7b2afea92207	cfd3629b-47b9-4934-86ab-9695c9f95668	g.chr14:102805492C>A	ENST00000558850.1	+	7	1861	c.1511C>A	c.(1510-1512)aCc>aAc	p.T504N	ZNF839_ENST00000420933.2_3'UTR|ZNF839_ENST00000559185.1_Missense_Mutation_p.T504N|ZNF839_ENST00000262236.5_Missense_Mutation_p.T504N|AL137229.1_ENST00000577622.1_RNA|ZNF839_ENST00000442396.2_Missense_Mutation_p.T620N	NM_001267827.1	NP_001254756.1	A8K0R7	ZN839_HUMAN	zinc finger protein 839	504							metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						TCCAACGATACCACTGAATCT	0.552																																																0													50	53	52					14																	102805492		1933	4137	6070	SO:0001583	missense	55778			AK093342	CCDS45164.1, CCDS58336.1	14q32.32	2010-05-06	2008-06-23	2008-06-23	ENSG00000022976	ENSG00000022976			20345	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 131"	C14orf131			Standard	NM_018335		Approved		uc010awk.2	A8K0R7		ENST00000558850.1:c.1511C>A	chr14.hg19:g.102805492C>A	ENSP00000453363:p.Thr504Asn		B3KSD2|Q53FH5|Q6GPI5|Q86TU1|Q9BQ86|Q9NUU3	Missense_Mutation	SNP	ENST00000558850.1	hg19	CCDS58336.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.618148	0.46736	.	.	ENSG00000022976	ENST00000442396;ENST00000262236;ENST00000398436;ENST00000420933	T;T	0.20200	2.09;2.09	4.29	-3.04	0.05412	.	2.167110	0.01436	N	0.014925	T	0.18676	0.0448	L	0.48642	1.525	0.09310	N	1	B;B;P;B	0.38020	0.11;0.021;0.615;0.11	B;B;B;B	0.39738	0.063;0.025;0.308;0.042	T	0.18871	-1.0323	10	0.66056	D	0.02	.	0.5543	0.00668	0.2964:0.209:0.2926:0.2019	.	620;504;383;504	A8K0R7-5;A8K0R7-2;Q9NT83;A8K0R7	.;.;.;ZN839_HUMAN	N	620;504;172;38	ENSP00000399863:T620N;ENSP00000262236:T504N	ENSP00000262236:T504N	T	+	2	0	ZNF839	101875245	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.397000	0.07269	-0.446000	0.07149	0.558000	0.71614	ACC		0.552	ZNF839-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000415492.2	NM_018335		A	102805492	C	A	102805492	3	1	682	1	0	0	0	0	1	0	0	0	18193	507	18	4	1885	4	ZNF839	14	102805492	Missense_Mutation	SNP	C	TCGA-IA-A83T-01A-11D-A34Z-10	8410399	102805492	4544048	36	37687											
OR4M2	390538	hgsc.bcm.edu	37	15	22369316	22369316	+	Silent	SNP	C	C	G			TCGA-IA-A83T-01A-11D-A34Z-10	TCGA-IA-A83T-11A-11D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	580ff01c-dd91-46ed-a426-7b2afea92207	cfd3629b-47b9-4934-86ab-9695c9f95668	g.chr15:22369316C>G	ENST00000332663.2	+	1	839	c.741C>G	c.(739-741)acC>acG	p.T247T	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	247						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CCCACATTACCATTGTGGTGC	0.433																																																0													265	195	218					15																	22369316		2203	4297	6500	SO:0001819	synonymous_variant	390538			AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"GPCR / Class A : Olfactory receptors"	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.741C>G	chr15.hg19:g.22369316C>G			B9EH16|Q6IEY2	Silent	SNP	ENST00000332663.2	hg19	CCDS32172.1																																																																																				0.433	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414921.1			G	22369316	C	G	22369316	2	3	682	1	0	0	0	0	0	0	0	1	11078	581	21	4		4	OR4M2	15	22369316	Silent	SNP	C	TCGA-IA-A83T-01A-11D-A34Z-10		22369316	80162076	37	37688											
CEP152	22995	hgsc.bcm.edu	37	15	49030644	49030644	+	Silent	SNP	C	C	T			TCGA-IA-A83T-01A-11D-A34Z-10	TCGA-IA-A83T-11A-11D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	580ff01c-dd91-46ed-a426-7b2afea92207	cfd3629b-47b9-4934-86ab-9695c9f95668	g.chr15:49030644C>T	ENST00000380950.2	-	27	5122	c.4935G>A	c.(4933-4935)acG>acA	p.T1645T	CEP152_ENST00000399334.3_Silent_p.T1589T	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1645					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)		GCTCCAAATACGTGGTTTCTT	0.388																																																0													194	187	189					15																	49030644		2010	4179	6189	SO:0001819	synonymous_variant	22995			AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"asterless"	613529	"microcephaly, primary autosomal recessive 4"	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.4935G>A	chr15.hg19:g.49030644C>T			E7ER66|Q17RV1|Q6NTA0	Silent	SNP	ENST00000380950.2	hg19	CCDS58361.1																																																																																				0.388	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		T	49030644	C	T	49030644	2	4	682	1	0	0	0	0	0	0	0	1	3250	523	19	1		1	CEP152	15	49030644	Silent	SNP	C	TCGA-IA-A83T-01A-11D-A34Z-10	26661328	49030644	53500748	38	37689											
TRPM7	54822	hgsc.bcm.edu	37	15	50978726	50978726	+	Splice_Site	SNP	A	A	G			TCGA-IA-A83T-01A-11D-A34Z-10	TCGA-IA-A83T-11A-11D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	580ff01c-dd91-46ed-a426-7b2afea92207	cfd3629b-47b9-4934-86ab-9695c9f95668	g.chr15:50978726A>G	ENST00000313478.7	-	1	285		c.e1+1		TRPM7_ENST00000560955.1_Splice_Site|RN7SL354P_ENST00000469282.2_RNA	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7						actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TGGGTCCAGTACCATTCTCCT	0.667																																																0													37	43	41					15																	50978726		2011	4163	6174	SO:0001630	splice_region_variant	54822			AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"Voltage-gated ion channels / Transient receptor potential cation channels"	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.3+1T>C	chr15.hg19:g.50978726A>G			Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Splice_Site	SNP	ENST00000313478.7	hg19	CCDS42035.1	.	.	.	.	.	.	.	.	.	.	A	17.89	3.500279	0.64298	.	.	ENSG00000092439	ENST00000313478	.	.	.	4.36	4.36	0.52297	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.1097	0.42555	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TRPM7	48766018	1.000000	0.71417	0.999000	0.59377	0.895000	0.52256	3.683000	0.54663	1.951000	0.56629	0.374000	0.22700	.		0.667	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1	NM_017672	Intron	G	50978726	A	G	50978726	5	3	682	1	0	0	0	0	0	0	1	0	16596	405	14	3	5748	3	TRPM7	15	50978726	Splice_Site	SNP	A	TCGA-IA-A83T-01A-11D-A34Z-10	1948082	50978726	51552666	39	37690											
TNRC6A	27327	hgsc.bcm.edu	37	16	24801625	24801625	+	Silent	SNP	C	C	G	rs377201148		TCGA-IA-A83T-01A-11D-A34Z-10	TCGA-IA-A83T-11A-11D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	580ff01c-dd91-46ed-a426-7b2afea92207	cfd3629b-47b9-4934-86ab-9695c9f95668	g.chr16:24801625C>G	ENST00000395799.3	+	6	1791	c.1662C>G	c.(1660-1662)ggC>ggG	p.G554G	TNRC6A_ENST00000315183.7_Silent_p.G554G	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	554	Interaction with argonaute family proteins.|Sufficient for interaction with AGO2.				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)		TGCAGCCTGGCGTAAATGGTC	0.473																																																0													127	121	123					16																	24801625		2197	4300	6497	SO:0001819	synonymous_variant	27327			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.1662C>G	chr16.hg19:g.24801625C>G			C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Silent	SNP	ENST00000395799.3	hg19	CCDS10624.2																																																																																				0.473	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		G	24801625	C	G	24801625	2	3	682	1	0	0	0	0	0	0	0	1	16345	755	27	4		4	TNRC6A	16	24801625	Silent	SNP	C	TCGA-IA-A83T-01A-11D-A34Z-10		24801625	65553128	40	37691											
OR1E1	8387	hgsc.bcm.edu	37	17	3301172	3301172	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IA-A83T-01A-11D-A34Z-10	TCGA-IA-A83T-11A-11D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	580ff01c-dd91-46ed-a426-7b2afea92207	cfd3629b-47b9-4934-86ab-9695c9f95668	g.chr17:3301172delA	ENST00000322608.2	-	1	532	c.533delT	c.(532-534)ttcfs	p.F178fs		NM_003553.2	NP_003544.2	P30953	OR1E1_HUMAN	olfactory receptor, family 1, subfamily E, member 1	178				F -> L (in Ref. 6; AAA17447). {ECO:0000305}.	detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(2)|lung(5)	10						CATATCACAGAAAAAGTGGGG	0.483																																																0													59	51	54					17																	3301172		2202	4300	6502	SO:0001589	frameshift_variant	8387			U04642	CCDS11024.1	17p13.3	2012-08-09			ENSG00000180016	ENSG00000180016		"GPCR / Class A : Olfactory receptors"	8189	protein-coding gene	gene with protein product				OR1E9P, OR1E5, OR1E6		8004088, 1370859	Standard	NM_003553		Approved	OR17-2, HGM071, OR17-32, OR13-66	uc002fvj.1	P30953	OTTHUMG00000090643	ENST00000322608.2:c.533delT	chr17.hg19:g.3301172delA	ENSP00000313384:p.Phe178fs		O43884|P47882|P47885|Q6IFA9|Q6IFM5|Q9UBJ1|Q9UM60	Frame_Shift_Del	DEL	ENST00000322608.2	hg19	CCDS11024.1																																																																																				0.483	OR1E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207303.1	NM_003553		-	3301172	A	-	3301172	7	5	682	1	0	1	0	1	0	0	0	0	10956	246	9	0	415	0	OR1E1	17	3301172	Frame_Shift_Del	DEL	A	TCGA-IA-A83T-01A-11D-A34Z-10		3301172	77894038	41	37692											
SMARCE1	6605	hgsc.bcm.edu	37	17	38793826	38793826	+	Splice_Site	SNP	T	T	C			TCGA-IA-A83T-01A-11D-A34Z-10	TCGA-IA-A83T-11A-11D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	580ff01c-dd91-46ed-a426-7b2afea92207	cfd3629b-47b9-4934-86ab-9695c9f95668	g.chr17:38793826T>C	ENST00000348513.6	-	5	937		c.e5-2		SMARCE1_ENST00000377808.4_Splice_Site|SMARCE1_ENST00000431889.2_Splice_Site|SMARCE1_ENST00000400122.3_Splice_Site|KRT222_ENST00000476049.1_Intron|SMARCE1_ENST00000580419.1_Splice_Site|SMARCE1_ENST00000544009.1_Splice_Site|SMARCE1_ENST00000578044.1_Splice_Site	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1						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)				AGAGGATGCCTACGAAAGAGT	0.433																																																0													91	83	86					17																	38793826		2203	4299	6502	SO:0001630	splice_region_variant	6605			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.157-2A>G	chr17.hg19:g.38793826T>C			B3KMC1|B4DFR4|C0IMW4|C0IMW5|C0IMW7|H7C3F6|O43539	Splice_Site	SNP	ENST00000348513.6	hg19	CCDS11370.1	.	.	.	.	.	.	.	.	.	.	T	19.49	3.837887	0.71373	.	.	ENSG00000073584	ENST00000348513;ENST00000431889;ENST00000377808	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4053	0.83662	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SMARCE1	36047352	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.997000	0.88414	2.333000	0.79357	0.482000	0.46254	.		0.433	SMARCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257203.1	NM_003079	Intron	C	38793826	T	C	38793826	5	2	682	1	0	0	0	0	0	0	1	0	14786	1536	53	3	1108	3	SMARCE1	17	38793826	Splice_Site	SNP	T	TCGA-IA-A83T-01A-11D-A34Z-10	35492654	38793826	42401384	42	37693											
GPS1	2873	hgsc.bcm.edu	37	17	80013100	80013100	+	Splice_Site	SNP	T	T	C			TCGA-IA-A83T-01A-11D-A34Z-10	TCGA-IA-A83T-11A-11D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	580ff01c-dd91-46ed-a426-7b2afea92207	cfd3629b-47b9-4934-86ab-9695c9f95668	g.chr17:80013100T>C	ENST00000306823.6	+	6	783		c.e6+2		GPS1_ENST00000392358.2_Splice_Site|GPS1_ENST00000355130.2_Splice_Site|GPS1_ENST00000320548.4_Splice_Site|GPS1_ENST00000578552.1_Splice_Site			Q13098	CSN1_HUMAN	G protein pathway suppressor 1						cell cycle (GO:0007049)|cullin deneddylation (GO:0010388)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)			breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2)	13	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			GTGCCGCAGGTGAGGGCCTGG	0.637																																																0													39	32	34					17																	80013100		2134	4212	6346	SO:0001630	splice_region_variant	2873				CCDS11800.1, CCDS32774.1	17q25.3	2013-03-14				ENSG00000169727			4549	protein-coding gene	gene with protein product	"COP9 signalosome subunit 1"	601934				9535219	Standard	NM_212492		Approved	COPS1, CSN1	uc002kdl.1	Q13098		ENST00000306823.6:c.760+2T>C	chr17.hg19:g.80013100T>C			Q8NA10|Q9BWL1	Splice_Site	SNP	ENST00000306823.6	hg19	CCDS32774.1	.	.	.	.	.	.	.	.	.	.	T	12.53	1.966042	0.34659	.	.	ENSG00000169727	ENST00000392358;ENST00000320548;ENST00000306823;ENST00000355130	.	.	.	4.13	4.13	0.48395	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2976	0.60307	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	GPS1	77606389	1.000000	0.71417	0.985000	0.45067	0.355000	0.29361	5.275000	0.65575	1.743000	0.51761	0.482000	0.46254	.		0.637	GPS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442176.1	NM_212492	Intron	C	80013100	T	C	80013100	5	2	682	1	0	0	0	0	0	0	1	0	6734	1710	59	3	941	3	GPS1	17	80013100	Splice_Site	SNP	T	TCGA-IA-A83T-01A-11D-A34Z-10	41219274	80013100	1182110	43	37694											
CCDC57	284001	hgsc.bcm.edu	37	17	80156212	80156212	+	Missense_Mutation	SNP	C	C	T			TCGA-IA-A83T-01A-11D-A34Z-10	TCGA-IA-A83T-11A-11D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	580ff01c-dd91-46ed-a426-7b2afea92207	cfd3629b-47b9-4934-86ab-9695c9f95668	g.chr17:80156212C>T	ENST00000389641.4	-	3	530	c.494G>A	c.(493-495)gGt>gAt	p.G165D	CCDC57_ENST00000392343.3_Missense_Mutation_p.G165D|CCDC57_ENST00000392347.1_Missense_Mutation_p.G165D			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	165										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			AGCAAGCTCACCGTCGAGCTC	0.498																																																0													86	86	86					17																	80156212		1875	4097	5972	SO:0001583	missense	284001			BC040264		17q25.3	2006-03-08			ENSG00000176155	ENSG00000176155			27564	protein-coding gene	gene with protein product						12477932	Standard	XM_006722279		Approved	FLJ00130, FLJ23754	uc002kdx.1	Q2TAC2	OTTHUMG00000140396	ENST00000389641.4:c.494G>A	chr17.hg19:g.80156212C>T	ENSP00000374292:p.Gly165Asp		A6NP51|A8MQC7|Q8IWG2|Q8TER3	Missense_Mutation	SNP	ENST00000389641.4	hg19		.	.	.	.	.	.	.	.	.	.	C	7.170	0.587487	0.13812	.	.	ENSG00000176155	ENST00000389641;ENST00000392347;ENST00000392343	T;T;T	0.24908	3.01;3.01;1.83	5.28	4.17	0.49024	.	0.257900	0.32444	N	0.006092	T	0.39489	0.1080	M	0.61703	1.905	0.42578	D	0.993207	D;P	0.55800	0.973;0.933	P;P	0.57283	0.817;0.659	T	0.17745	-1.0359	10	0.51188	T	0.08	-9.5475	9.5436	0.39266	0.0:0.8694:0.0:0.1306	.	165;165	Q2TAC2-2;Q2TAC2	.;CCD57_HUMAN	D	165	ENSP00000374292:G165D;ENSP00000376158:G165D;ENSP00000376154:G165D	ENSP00000374292:G165D	G	-	2	0	CCDC57	77749501	0.352000	0.24895	0.002000	0.10522	0.160000	0.22226	3.742000	0.55097	0.970000	0.38263	0.655000	0.94253	GGT		0.498	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000277182.3	NM_198082		T	80156212	C	T	80156212	3	4	682	1	0	0	0	0	1	0	0	0	2829	507	18	2	2313	2	CCDC57	17	80156212	Missense_Mutation	SNP	C	TCGA-IA-A83T-01A-11D-A34Z-10	143112	80156212	1038998	44	37695											
AFG3L2	10939	hgsc.bcm.edu	37	18	12359961	12359965	+	Frame_Shift_Del	DEL	ATTTT	ATTTT	-			TCGA-IA-A83T-01A-11D-A34Z-10	TCGA-IA-A83T-11A-11D-A34Z-10	ATTTT	ATTTT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	580ff01c-dd91-46ed-a426-7b2afea92207	cfd3629b-47b9-4934-86ab-9695c9f95668	g.chr18:12359961_12359965delATTTT	ENST00000269143.3	-	7	944_948	c.713_717delAAAAT	c.(712-717)gaaaatfs	p.EN238fs		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	238					axonogenesis (GO:0007409)|cell death (GO:0008219)|cristae formation (GO:0042407)|mitochondrial fusion (GO:0008053)|mitochondrial protein processing (GO:0034982)|muscle fiber development (GO:0048747)|myelination (GO:0042552)|nerve development (GO:0021675)|neuromuscular junction development (GO:0007528)|regulation of multicellular organism growth (GO:0040014)|righting reflex (GO:0060013)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	CAGGCACCCGATTTTCTCCTTCTAT	0.395																																																0																																										SO:0001589	frameshift_variant	10939			Y18314	CCDS11859.1	18p11.21	2014-09-17	2013-10-17		ENSG00000141385	ENSG00000141385		"ATPases / AAA-type"	315	protein-coding gene	gene with protein product		604581	"AFG3 (ATPase family gene 3, yeast)-like 2", "spinocerebellar ataxia 28", "AFG3 ATPase family gene 3-like 2 (yeast)", "AFG3 ATPase family gene 3-like 2 (S. cerevisiae)", "AFG3 ATPase family member 3-like 2 (S. cerevisiae)"	SCA28		10395799, 18769991	Standard	NM_006796		Approved	SPAX5	uc002kqz.2	Q9Y4W6	OTTHUMG00000131695	ENST00000269143.3:c.713_717delAAAAT	chr18.hg19:g.12359961_12359965delATTTT	ENSP00000269143:p.Glu238fs		Q6P1L0	Frame_Shift_Del	DEL	ENST00000269143.3	hg19	CCDS11859.1																																																																																				0.395	AFG3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254603.2	NM_006796		-	12359965	ATTTT	-	12359961	7	5	682	1	0	1	0	1	0	0	0	0	360	330	12	0	1720	0	AFG3L2	18	12359961	Frame_Shift_Del	DEL	ATTTT	TCGA-IA-A83T-01A-11D-A34Z-10		12359961	65717287	45	37696											
MAP2K7	5609	hgsc.bcm.edu	37	19	7975668	7975757	+	Splice_Site	DEL	CTGGGCAAGATGACAGTGGCGGTGAGTGACCAGGCGGGGCTTGCACTGGGCAGGATGACAGAGGCGGTGAGTGACCAGGCGGGGCGTGCA	CTGGGCAAGATGACAGTGGCGGTGAGTGACCAGGCGGGGCTTGCACTGGGCAGGATGACAGAGGCGGTGAGTGACCAGGCGGGGCGTGCA	-	rs373789571|rs367903083|rs12609075|rs41285782|rs537403823|rs574489981|rs554660875|rs372316207|rs191490120|rs566635337|rs550936407|rs538578150|rs551097008|rs370462728|rs181230065|rs12610278	byFrequency	TCGA-IA-A83T-01A-11D-A34Z-10	TCGA-IA-A83T-11A-11D-A34Z-10	CTGGGCAAGATGACAGTGGCGGTGAGTGACCAGGCGGGGCTTGCACTGGGCAGGATGACAGAGGCGGTGAGTGACCAGGCGGGGCGTGCA	CTGGGCAAGATGACAGTGGCGGTGAGTGACCAGGCGGGGCTTGCACTGGGCAGGATGACAGAGGCGGTGAGTGACCAGGCGGGGCGTGCA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	580ff01c-dd91-46ed-a426-7b2afea92207	cfd3629b-47b9-4934-86ab-9695c9f95668	g.chr19:7975668_7975757delCTGGGCAAGATGACAGTGGCGGTGAGTGACCAGGCGGGGCTTGCACTGGGCAGGATGACAGAGGCGGTGAGTGACCAGGCGGGGCGTGCA	ENST00000397979.3	+	6	709_729	c.655_675delCTGGGCAAGATGACAGTGGCGGTGAGTGACCAGGCGGGGCTTGCACTGGGCAGGATGACAGAGGCGGTGAGTGACCAGGCGGGGCGTGCA	c.(655-675)ctgggcaagatgacagtggcgdel	p.LGKMTVA219del	MAP2K7_ENST00000397981.3_Splice_Site_p.LGKMTVA219del|MAP2K7_ENST00000545011.1_Splice_Site_p.LGKMTVA261del|CTD-3193O13.13_ENST00000595655.1_RNA|MAP2K7_ENST00000397983.3_Splice_Site_p.LGKMTVA235del	NM_145185.2	NP_660186.1	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	219	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						CGAGCGCATTCTGGGCAAGATGACAGTGGCGGTGAGTGACCAGGCGGGGCTTGCACTGGGCAGGATGACAGAGGCGGTGAGTGACCAGGCGGGGCGTGCACTGGGCAAGA	0.666																																																0																																										SO:0001630	splice_region_variant	5609			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.675+1CTGGGCAAGATGACAGTGGCGGTGAGTGACCAGGCGGGGCTTGCACTGGGCAGGATGACAGAGGCGGTGAGTGACCAGGCGGGGCGTGCA>-	chr19.hg19:g.7975668_7975757delCTGGGCAAGATGACAGTGGCGGTGAGTGACCAGGCGGGGCTTGCACTGGGCAGGATGACAGAGGCGGTGAGTGACCAGGCGGGGCGTGCA			B2R9S5|D6W659|O14648|O14816|O60452|O60453|Q1PG43|Q8IY10	Frame_Shift_Del	DEL	ENST00000397979.3	hg19	CCDS42491.1																																																																																				0.666	MAP2K7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000267980.1		In_Frame_Del	-	7975757	CTGGGCAAGATGACAGTGGCGGTGAGTGACCAGGCGGGGCTTGCACTGGGCAGGATGACAGAGGCGGTGAGTGACCAGGCGGGGCGTGCA	-	7975668	8	5	682	1	0	1	0	1	0	0	1	0	9244	912	32	0	677	0	MAP2K7	19	7975668	Splice_Site	DEL	CTGGGCAAGATGACAGTGGCGGTGAGTGACCAGGCGGGGCTTGCACTGGGCAGGATGACAGAGGCGGTGAGTGACCAGGCGGGGCGTGCA	TCGA-IA-A83T-01A-11D-A34Z-10		7975668	51153315	46	37697											
MUC16	94025	hgsc.bcm.edu	37	19	9016700	9016700	+	Silent	SNP	G	G	A			TCGA-IA-A83T-01A-11D-A34Z-10	TCGA-IA-A83T-11A-11D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	580ff01c-dd91-46ed-a426-7b2afea92207	cfd3629b-47b9-4934-86ab-9695c9f95668	g.chr19:9016700G>A	ENST00000397910.4	-	28	38240	c.38037C>T	c.(38035-38037)gaC>gaT	p.D12679D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12681					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						CTGACCCAAGGTCCACTGTGG	0.488																																																0													56	55	56					19																	9016700		1884	4123	6007	SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.38037C>T	chr19.hg19:g.9016700G>A			Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	hg19	CCDS54212.1																																																																																				0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	9016700	G	A	9016700	2	1	682	1	0	0	0	0	0	0	0	1	9975	1252	44	2		2	MUC16	19	9016700	Silent	SNP	G	TCGA-IA-A83T-01A-11D-A34Z-10	1041032	9016700	50112283	47	37698											
MUC16	94025	hgsc.bcm.edu	37	19	9075870	9075870	+	Missense_Mutation	SNP	G	G	A			TCGA-IA-A83T-01A-11D-A34Z-10	TCGA-IA-A83T-11A-11D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	580ff01c-dd91-46ed-a426-7b2afea92207	cfd3629b-47b9-4934-86ab-9695c9f95668	g.chr19:9075870G>A	ENST00000397910.4	-	3	11779	c.11576C>T	c.(11575-11577)aCa>aTa	p.T3859I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3860	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						TGCCTCTGTTGTAAGAGCTGT	0.473																																																0													148	132	137					19																	9075870		2026	4193	6219	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.11576C>T	chr19.hg19:g.9075870G>A	ENSP00000381008:p.Thr3859Ile		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	hg19	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	5.304	0.241447	0.10077	.	.	ENSG00000181143	ENST00000397910	T	0.02472	4.28	1.52	0.439	0.16567	.	.	.	.	.	T	0.01489	0.0048	N	0.08118	0	.	.	.	B	0.30068	0.267	B	0.21708	0.036	T	0.43032	-0.9416	8	0.87932	D	0	.	3.9495	0.09363	0.2362:0.0:0.7638:0.0	.	3859	B5ME49	.	I	3859	ENSP00000381008:T3859I	ENSP00000381008:T3859I	T	-	2	0	MUC16	8936870	0.010000	0.17322	0.057000	0.19452	0.459000	0.32528	0.103000	0.15292	0.202000	0.20498	0.205000	0.17691	ACA		0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	9075870	G	A	9075870	3	1	682	1	0	0	0	0	1	0	0	0	9975	1377	48	2	32275	2	MUC16	19	9075870	Missense_Mutation	SNP	G	TCGA-IA-A83T-01A-11D-A34Z-10	59170	9075870	50053113	48	37699											
GCDH	2639	hgsc.bcm.edu	37	19	13002330	13002330	+	Missense_Mutation	SNP	G	G	A			TCGA-IA-A83T-01A-11D-A34Z-10	TCGA-IA-A83T-11A-11D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	580ff01c-dd91-46ed-a426-7b2afea92207	cfd3629b-47b9-4934-86ab-9695c9f95668	g.chr19:13002330G>A	ENST00000222214.5	+	3	332	c.121G>A	c.(121-123)Gct>Act	p.A41T	GCDH_ENST00000457854.1_Missense_Mutation_p.A41T|GCDH_ENST00000422947.2_5'UTR|GCDH_ENST00000591470.1_Missense_Mutation_p.A41T			Q92947	GCDH_HUMAN	glutaryl-CoA dehydrogenase	41					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)	GAGCCAACTGGCTAAGTGTAA	0.597																																					GBM(123;875 1636 7726 16444 26754)											0													151	137	142					19																	13002330		2203	4300	6503	SO:0001583	missense	2639			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.121G>A	chr19.hg19:g.13002330G>A	ENSP00000222214:p.Ala41Thr		A8K2Z2|O14719	Silent	SNP	ENST00000222214.5	hg19	CCDS12286.1	.	.	.	.	.	.	.	.	.	.	G	13.33	2.203936	0.38905	.	.	ENSG00000105607	ENST00000457854;ENST00000222214	D;D	0.97575	-4.37;-4.44	3.74	0.44	0.16572	.	2.183690	0.01751	N	0.029922	D	0.91341	0.7269	N	0.08118	0	0.19300	N	0.999978	B;B	0.11235	0.0;0.004	B;B	0.09377	0.002;0.004	D	0.85180	0.1003	10	0.27082	T	0.32	.	5.9903	0.19456	0.3389:0.0:0.6611:0.0	.	41;41	Q92947;Q92947-2	GCDH_HUMAN;.	T	41	ENSP00000394872:A41T;ENSP00000222214:A41T	ENSP00000222214:A41T	A	+	1	0	GCDH	12863330	0.000000	0.05858	0.003000	0.11579	0.448000	0.32197	-0.354000	0.07681	0.201000	0.20466	-0.448000	0.05591	GCT		0.597	GCDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451897.1			A	13002330	G	A	13002330	3	1	682	1	0	0	0	0	1	0	0	0	6289	1203	42	2	127	2	GCDH	19	13002330	Missense_Mutation	SNP	G	TCGA-IA-A83T-01A-11D-A34Z-10	3926460	13002330	46126653	49	37700											
EPS15L1	58513	hgsc.bcm.edu	37	19	16545212	16545214	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-IA-A83T-01A-11D-A34Z-10	TCGA-IA-A83T-11A-11D-A34Z-10	GAG	GAG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	580ff01c-dd91-46ed-a426-7b2afea92207	cfd3629b-47b9-4934-86ab-9695c9f95668	g.chr19:16545212_16545214delGAG	ENST00000248070.6	-	7	599_601	c.460_462delCTC	c.(460-462)ctcdel	p.L154del	EPS15L1_ENST00000594975.1_In_Frame_Del_p.L154del|EPS15L1_ENST00000597937.1_In_Frame_Del_p.L154del|EPS15L1_ENST00000602009.1_5'UTR|EPS15L1_ENST00000455140.2_In_Frame_Del_p.L154del|EPS15L1_ENST00000535753.2_In_Frame_Del_p.L154del	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	154	EH 2. {ECO:0000255|PROSITE- ProRule:PRU00077}.|Interaction with DAB2. {ECO:0000250}.				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						TTGAGTTCATGAGGACTGGCTTG	0.512																																																0																																										SO:0001651	inframe_deletion	58513			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.460_462delCTC	chr19.hg19:g.16545212_16545214delGAG	ENSP00000248070:p.Leu154del		A2RRF3|A5PL29|B4DKA3	In_Frame_Del	DEL	ENST00000248070.6	hg19	CCDS32944.1																																																																																				0.512	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461040.1	NM_021235		-	16545214	GAG	-	16545212	7	5	682	1	0	1	0	1	0	0	0	0	5195	1277	45	0	2200	0	EPS15L1	19	16545212	In_Frame_Del	DEL	GAG	TCGA-IA-A83T-01A-11D-A34Z-10	3542882	16545212	42583771	50	37701											
ZBTB32	27033	hgsc.bcm.edu	37	19	36206193	36206193	+	Missense_Mutation	SNP	C	C	T			TCGA-IA-A83T-01A-11D-A34Z-10	TCGA-IA-A83T-11A-11D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	580ff01c-dd91-46ed-a426-7b2afea92207	cfd3629b-47b9-4934-86ab-9695c9f95668	g.chr19:36206193C>T	ENST00000392197.2	+	3	983	c.665C>T	c.(664-666)tCt>tTt	p.S222F	KMT2B_ENST00000341701.1_5'Flank|KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_5'Flank|ZBTB32_ENST00000262630.3_Missense_Mutation_p.S222F|KMT2B_ENST00000222270.7_5'Flank			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	222					DNA repair (GO:0006281)|hemopoiesis (GO:0030097)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cytokine production (GO:0001817)|T cell proliferation (GO:0042098)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	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)			CCAGGGGGCTCTGAGGAAAGT	0.627																																																0													50	51	51					19																	36206193		2203	4300	6503	SO:0001583	missense	27033			AF130255	CCDS12471.1	19q13.1	2013-01-08			ENSG00000011590	ENSG00000011590		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	16763	protein-coding gene	gene with protein product	"repressor of GATA"	605859				10572087	Standard	XM_005258739		Approved	TZFP, FAZF, FAXF, Rog, ZNF538	uc002oay.3	Q9Y2Y4	OTTHUMG00000048118	ENST00000392197.2:c.665C>T	chr19.hg19:g.36206193C>T	ENSP00000376035:p.Ser222Phe		Q8WVP2	Missense_Mutation	SNP	ENST00000392197.2	hg19	CCDS12471.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.215582	0.58452	.	.	ENSG00000011590	ENST00000262630;ENST00000392197	T;T	0.10763	2.84;2.84	5.06	5.06	0.68205	.	0.000000	0.42964	D	0.000622	T	0.21921	0.0528	L	0.32530	0.975	0.39248	D	0.963974	D	0.71674	0.998	D	0.79784	0.993	T	0.01566	-1.1323	10	0.45353	T	0.12	-11.7321	13.9419	0.64059	0.0:1.0:0.0:0.0	.	222	Q9Y2Y4	ZBT32_HUMAN	F	222	ENSP00000262630:S222F;ENSP00000376035:S222F	ENSP00000262630:S222F	S	+	2	0	ZBTB32	40898033	0.998000	0.40836	1.000000	0.80357	0.471000	0.32888	2.812000	0.47994	2.359000	0.80004	0.561000	0.74099	TCT		0.627	ZBTB32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109491.3	NM_014383		T	36206193	C	T	36206193	3	4	682	1	0	0	0	0	1	0	0	0	17540	913	32	2	667	2	ZBTB32	19	36206193	Missense_Mutation	SNP	C	TCGA-IA-A83T-01A-11D-A34Z-10	19660981	36206193	22922790	51	37702											
BAX	581	hgsc.bcm.edu	37	19	49459013	49459013	+	Missense_Mutation	SNP	G	G	T			TCGA-IA-A83T-01A-11D-A34Z-10	TCGA-IA-A83T-11A-11D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	580ff01c-dd91-46ed-a426-7b2afea92207	cfd3629b-47b9-4934-86ab-9695c9f95668	g.chr19:49459013G>T	ENST00000345358.7	+	3	208	c.156G>T	c.(154-156)caG>caT	p.Q52H	BAX_ENST00000293288.8_Missense_Mutation_p.Q52H|BAX_ENST00000391871.3_Missense_Mutation_p.R35M|BAX_ENST00000539787.1_Missense_Mutation_p.Q52H|BAX_ENST00000354470.3_Intron|BAX_ENST00000415969.2_Missense_Mutation_p.Q52H	NM_138761.3|NM_138764.4	NP_620116.1|NP_620119.2	Q07812	BAX_HUMAN	BCL2-associated X protein	52					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)			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)		CGGTGCCTCAGGATGCGTCCA	0.622																																																0													54	52	53					19																	49459013		2203	4300	6503	SO:0001583	missense	581				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.156G>T	chr19.hg19:g.49459013G>T	ENSP00000263262:p.Gln52His		A8K4W1|P55269|Q07814|Q07815|Q8WZ49|Q9NR76|Q9NYG7|Q9UCZ6|Q9UCZ7|Q9UQD6	Missense_Mutation	SNP	ENST00000345358.7	hg19	CCDS12742.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.523|8.523	0.869294|0.869294	0.17322|0.17322	.|.	.|.	ENSG00000087088|ENSG00000087088	ENST00000539787;ENST00000345358;ENST00000415969;ENST00000293288|ENST00000391871	T;T;T;T|.	0.31247|.	2.61;1.5;2.85;2.81|.	4.21|4.21	0.963|0.963	0.19649|0.19649	.|.	0.765258|.	0.12506|.	N|.	0.462920|.	T|T	0.38161|0.38161	0.1030|0.1030	L|L	0.44542|0.44542	1.39|1.39	0.20563|0.20563	N|N	0.999888|0.999888	B;B;P|.	0.51653|.	0.315;0.383;0.947|.	B;B;B|.	0.40228|.	0.044;0.07;0.323|.	T|T	0.35475|0.35475	-0.9787|-0.9787	10|6	0.48119|0.87932	T|D	0.1|0	-4.6172|-4.6172	5.9709|5.9709	0.19351|0.19351	0.3253:0.0:0.6747:0.0|0.3253:0.0:0.6747:0.0	.|.	52;52;52|.	Q07812;Q07812-8;Q07812-2|.	BAX_HUMAN;.;.|.	H|M	52|35	ENSP00000441413:Q52H;ENSP00000263262:Q52H;ENSP00000389971:Q52H;ENSP00000293288:Q52H|.	ENSP00000293288:Q52H|ENSP00000375744:R35M	Q|R	+|+	3|2	2|0	BAX|BAX	54150825|54150825	1.000000|1.000000	0.71417|0.71417	0.570000|0.570000	0.28473|0.28473	0.556000|0.556000	0.35491|0.35491	2.007000|2.007000	0.40883|0.40883	0.331000|0.331000	0.23511|0.23511	-0.259000|-0.259000	0.10710|0.10710	CAG|AGG		0.622	BAX-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360767.1	NM_138763		T	49459013	G	T	49459013	3	4	682	1	0	0	0	0	1	0	0	0	1328	991	35	4	166	4	BAX	19	49459013	Missense_Mutation	SNP	G	TCGA-IA-A83T-01A-11D-A34Z-10	13252820	49459013	9669970	52	37703											
TTYH1	57348	hgsc.bcm.edu	37	19	54946848	54946848	+	Missense_Mutation	SNP	G	G	T			TCGA-IA-A83T-01A-11D-A34Z-10	TCGA-IA-A83T-11A-11D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	580ff01c-dd91-46ed-a426-7b2afea92207	cfd3629b-47b9-4934-86ab-9695c9f95668	g.chr19:54946848G>T	ENST00000376530.3	+	11	1355	c.1252G>T	c.(1252-1254)Gcc>Tcc	p.A418S	CTD-2587H19.3_ENST00000597355.1_lincRNA|TTYH1_ENST00000376531.3_Missense_Mutation_p.A418S|TTYH1_ENST00000489425.1_3'UTR|TTYH1_ENST00000301194.4_Missense_Mutation_p.A418S|AC008746.3_ENST00000457113.1_RNA|AC008746.12_ENST00000599382.1_lincRNA|TTYH1_ENST00000391739.3_Missense_Mutation_p.G448V|CTD-2587H19.2_ENST00000596631.1_RNA	NM_001201461.1|NM_020659.3	NP_001188390.1|NP_065710.1	Q9H313	TTYH1_HUMAN	tweety family member 1	418					cell-substrate adhesion (GO:0031589)|chloride transport (GO:0006821)|filopodium assembly (GO:0046847)|ion transmembrane transport (GO:0034220)|iron ion transmembrane transport (GO:0034755)|iron ion transport (GO:0006826)|mitotic nuclear division (GO:0007067)|regulation of anion transport (GO:0044070)|single organismal cell-cell adhesion (GO:0016337)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|filopodium membrane (GO:0031527)|filopodium tip (GO:0032433)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum membrane (GO:0030868)	calcium ion binding (GO:0005509)|iron ion transmembrane transporter activity (GO:0005381)|volume-sensitive chloride channel activity (GO:0072320)			endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		CCGAGCCTGGGCCCTCTTCCC	0.701																																																0													22	21	21					19																	54946848		2201	4295	6496	SO:0001583	missense	57348			AF177909	CCDS12893.1, CCDS33106.1, CCDS56102.1	19q13.4	2013-09-02	2013-09-02		ENSG00000167614	ENSG00000167614			13476	protein-coding gene	gene with protein product		605784	"tweety (Drosophila) homolog 1", "tweety homolog 1 (Drosophila)"			10950931	Standard	NM_020659		Approved		uc002qfr.3	Q9H313	OTTHUMG00000065544	ENST00000376530.3:c.1252G>T	chr19.hg19:g.54946848G>T	ENSP00000365713:p.Ala418Ser		B0VJY3|B0VJY4|B0VJY5|B2VAL9|Q5U682|Q68A17|Q6L750|Q6ZTE5|Q8WUU2	Missense_Mutation	SNP	ENST00000376530.3	hg19	CCDS12893.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.79|13.79	2.341380|2.341380	0.41498|0.41498	.|.	.|.	ENSG00000167614|ENSG00000167614	ENST00000301194;ENST00000376530;ENST00000376531|ENST00000391739	T;T;T|T	0.11385|0.29397	2.78;2.78;2.78|1.57	4.04|4.04	4.04|4.04	0.47022|0.47022	.|.	0.236204|.	0.37393|.	N|.	0.002102|.	T|T	0.43722|0.43722	0.1260|0.1260	L|L	0.60455|0.60455	1.87|1.87	0.47407|0.47407	D|D	0.999411|0.999411	D;D;D|D	0.69078|0.69078	0.99;0.978;0.997|0.997	P;P;D|P	0.79108|0.60789	0.744;0.738;0.992|0.879	T|T	0.40079|0.40079	-0.9582|-0.9582	10|9	0.10636|0.87932	T|D	0.68|0	-17.4112|-17.4112	8.0399|8.0399	0.30515|0.30515	0.1138:0.0:0.8862:0.0|0.1138:0.0:0.8862:0.0	.|.	418;418;418|448	Q9H313-2;Q9H313-3;Q9H313|B7Z1H9	.;.;TTYH1_HUMAN|.	S|V	418|448	ENSP00000301194:A418S;ENSP00000365713:A418S;ENSP00000365714:A418S|ENSP00000375619:G448V	ENSP00000301194:A418S|ENSP00000375619:G448V	A|G	+|+	1|2	0|0	TTYH1|TTYH1	59638660|59638660	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	2.072000|2.072000	0.41510|0.41510	1.982000|1.982000	0.57802|0.57802	0.561000|0.561000	0.74099|0.74099	GCC|GGC		0.701	TTYH1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140498.1			T	54946848	G	T	54946848	3	4	682	1	0	0	0	0	1	0	0	0	16744	1203	42	4	1294	4	TTYH1	19	54946848	Missense_Mutation	SNP	G	TCGA-IA-A83T-01A-11D-A34Z-10	5487835	54946848	4182135	53	37704											
MMP24	10893	hgsc.bcm.edu	37	20	33862094	33862094	+	Missense_Mutation	SNP	G	G	T			TCGA-IA-A83T-01A-11D-A34Z-10	TCGA-IA-A83T-11A-11D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	580ff01c-dd91-46ed-a426-7b2afea92207	cfd3629b-47b9-4934-86ab-9695c9f95668	g.chr20:33862094G>T	ENST00000246186.6	+	9	1705	c.1620G>T	c.(1618-1620)aaG>aaT	p.K540N	MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000455178.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000424358.1_RNA|MMP24-AS1_ENST00000435366.1_RNA|MMP24-AS1_ENST00000433764.1_RNA|EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000566203.2_RNA|MMP24-AS1_ENST00000453892.1_RNA|RP4-614O4.11_ENST00000444717.1_RNA	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	540					cell-cell adhesion (GO:0098609)|cell-cell adhesion mediated by cadherin (GO:0044331)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|glial cell differentiation (GO:0010001)|neuronal stem cell maintenance (GO:0097150)|positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)		Marimastat(DB00786)	ATTTCTACAAGGGCCGGGACT	0.567																																																0													90	104	99					20																	33862094		2049	4192	6241	SO:0001583	missense	10893			AF131284	CCDS46593.1	20q11.2	2008-07-16	2005-08-08		ENSG00000125966	ENSG00000125966			7172	protein-coding gene	gene with protein product	"membrane-type 5 matrix metalloproteinase"	604871	"matrix metalloproteinase 24 (membrane-inserted)"			10363975	Standard	NM_006690		Approved	MT5-MMP	uc002xbu.2	Q9Y5R2	OTTHUMG00000032330	ENST00000246186.6:c.1620G>T	chr20.hg19:g.33862094G>T	ENSP00000246186:p.Lys540Asn		B7ZBG8|Q9H440	Missense_Mutation	SNP	ENST00000246186.6	hg19	CCDS46593.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.099273	0.56183	.	.	ENSG00000125966	ENST00000246186;ENST00000540655	T	0.04551	3.6	5.1	-0.206	0.13193	Hemopexin/matrixin (2);	0.215289	0.46145	D	0.000307	T	0.29914	0.0748	H	0.98027	4.13	0.58432	D	0.999997	D	0.76494	0.999	D	0.77004	0.989	T	0.30208	-0.9986	10	0.87932	D	0	.	10.0056	0.41955	0.5282:0.0:0.4718:0.0	.	540	Q9Y5R2	MMP24_HUMAN	N	540;488	ENSP00000246186:K540N	ENSP00000246186:K540N	K	+	3	2	MMP24	33325508	1.000000	0.71417	0.993000	0.49108	0.989000	0.77384	1.437000	0.34991	-0.268000	0.09312	-0.150000	0.13652	AAG		0.567	MMP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078851.4	NM_006690		T	33862094	G	T	33862094	3	4	682	1	0	0	0	0	1	0	0	0	9663	991	35	4	1404	4	MMP24	20	33862094	Missense_Mutation	SNP	G	TCGA-IA-A83T-01A-11D-A34Z-10		33862094	29163426	54	37705											
KREMEN1	83999	hgsc.bcm.edu	37	22	29533423	29533423	+	Missense_Mutation	SNP	G	G	C			TCGA-IA-A83T-01A-11D-A34Z-10	TCGA-IA-A83T-11A-11D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	580ff01c-dd91-46ed-a426-7b2afea92207	cfd3629b-47b9-4934-86ab-9695c9f95668	g.chr22:29533423G>C	ENST00000407188.1	+	6	719	c.719G>C	c.(718-720)tGc>tCc	p.C240S	KREMEN1_ENST00000400335.4_Missense_Mutation_p.C242S|KREMEN1_ENST00000327813.5_Missense_Mutation_p.C242S|KREMEN1_ENST00000400338.2_Missense_Mutation_p.C242S			Q96MU8	KREM1_HUMAN	kringle containing transmembrane protein 1	240	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell communication (GO:0007154)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	20						GGGAGGGTCTGCTACTGGACC	0.612																																																0													76	77	77					22																	29533423		1917	4125	6042	SO:0001583	missense	83999			AB059618	CCDS43000.1, CCDS13849.1, CCDS43000.2	22q12.1	2008-03-27	2002-11-13	2002-11-15	ENSG00000183762	ENSG00000183762			17550	protein-coding gene	gene with protein product		609898	"kringle containing transmembrane protein"	KREMEN		11267660	Standard	NM_001039570		Approved	KRM1	uc011akm.1	Q96MU8	OTTHUMG00000030987	ENST00000407188.1:c.719G>C	chr22.hg19:g.29533423G>C	ENSP00000385431:p.Cys240Ser		B0QY46|B0QY47|B1AJR5|Q5TIB9|Q6P3X6|Q9BY70|Q9UGS5|Q9UGU1	Missense_Mutation	SNP	ENST00000407188.1	hg19	CCDS43000.2	.	.	.	.	.	.	.	.	.	.	G	24.9	4.579944	0.86645	.	.	ENSG00000183762	ENST00000400335;ENST00000400338;ENST00000327813;ENST00000407188	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	5.14	5.14	0.70334	CUB (5);	0.000000	0.64402	D	0.000002	D	0.85682	0.5753	H	0.96460	3.825	0.80722	D	1	D;D;D	0.89917	0.997;1.0;0.989	D;D;D	0.83275	0.994;0.996;0.985	D	0.90105	0.4187	10	0.87932	D	0	.	16.485	0.84182	0.0:0.0:1.0:0.0	.	240;242;242	Q96MU8;Q96MU8-2;Q96MU8-3	KREM1_HUMAN;.;.	S	242;242;242;240	ENSP00000383189:C242S;ENSP00000383192:C242S;ENSP00000331242:C242S;ENSP00000385431:C240S	ENSP00000331242:C242S	C	+	2	0	KREMEN1	27863423	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	9.476000	0.97823	2.587000	0.87381	0.591000	0.81541	TGC		0.612	KREMEN1-004	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320947.1			C	29533423	G	C	29533423	3	2	682	1	0	0	0	0	1	0	0	0	8444	1319	46	4	747	4	KREMEN1	22	29533423	Missense_Mutation	SNP	G	TCGA-IA-A83T-01A-11D-A34Z-10		29533423	21771143	55	37706											
CABP7	164633	hgsc.bcm.edu	37	22	30123661	30123661	+	Missense_Mutation	SNP	G	G	T			TCGA-IA-A83T-01A-11D-A34Z-10	TCGA-IA-A83T-11A-11D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	580ff01c-dd91-46ed-a426-7b2afea92207	cfd3629b-47b9-4934-86ab-9695c9f95668	g.chr22:30123661G>T	ENST00000216144.3	+	2	461	c.120G>T	c.(118-120)gaG>gaT	p.E40D		NM_182527.2	NP_872333.1	Q86V35	CABP7_HUMAN	calcium binding protein 7	40	EF-hand 1. {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)			lung(1)|skin(3)	4			OV - Ovarian serous cystadenocarcinoma(5;0.00442)|Epithelial(10;0.215)|all cancers(5;0.233)			AGATCCGAGAGGCCTTCAAGG	0.607																																																0													136	126	130					22																	30123661		2203	4300	6503	SO:0001583	missense	164633			BC051805	CCDS13867.1	22q12.2	2013-01-10			ENSG00000100314	ENSG00000100314		"EF-hand domain containing"	20834	protein-coding gene	gene with protein product						11785943	Standard	NM_182527		Approved	MGC57793	uc003agl.3	Q86V35	OTTHUMG00000151282	ENST00000216144.3:c.120G>T	chr22.hg19:g.30123661G>T	ENSP00000216144:p.Glu40Asp			Missense_Mutation	SNP	ENST00000216144.3	hg19	CCDS13867.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.981132	0.93044	.	.	ENSG00000100314	ENST00000216144	T	0.72835	-0.69	5.59	4.58	0.56647	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.77246	0.4102	L	0.41079	1.255	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	T	0.79412	-0.1814	10	0.87932	D	0	-13.5271	12.9895	0.58610	0.0784:0.0:0.9215:0.0	.	40	Q86V35	CABP7_HUMAN	D	40	ENSP00000216144:E40D	ENSP00000216144:E40D	E	+	3	2	CABP7	28453661	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.603000	0.46266	1.366000	0.46076	0.561000	0.74099	GAG		0.607	CABP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322080.1	NM_182527		T	30123661	G	T	30123661	3	4	682	1	0	0	0	0	1	0	0	0	2537	991	35	4	126	4	CABP7	22	30123661	Missense_Mutation	SNP	G	TCGA-IA-A83T-01A-11D-A34Z-10	590238	30123661	21180905	56	37707											
TMEM184B	25829	hgsc.bcm.edu	37	22	38621517	38621517	+	Missense_Mutation	SNP	A	A	G			TCGA-IA-A83T-01A-11D-A34Z-10	TCGA-IA-A83T-11A-11D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	580ff01c-dd91-46ed-a426-7b2afea92207	cfd3629b-47b9-4934-86ab-9695c9f95668	g.chr22:38621517A>G	ENST00000361906.3	-	7	909	c.701T>C	c.(700-702)tTc>tCc	p.F234S	TMEM184B_ENST00000361684.4_Missense_Mutation_p.F234S|TMEM184B_ENST00000504337.1_5'Flank	NM_001195072.1|NM_012264.4	NP_001182001.1|NP_036396.2	Q9Y519	T184B_HUMAN	transmembrane protein 184B	234						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	8	Melanoma(58;0.045)					CCGGGTGGCGAAGTAGAAGAG	0.597																																																0													131	116	121					22																	38621517		2203	4300	6503	SO:0001583	missense	25829			AL096879	CCDS13969.2	22q12	2008-02-04	2007-07-11	2007-07-11	ENSG00000198792	ENSG00000198792			1310	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 5"	C22orf5		10591208	Standard	NM_012264		Approved	HS5O6A, DKFZP586A1024, FM08	uc003avf.1	Q9Y519	OTTHUMG00000030557	ENST00000361906.3:c.701T>C	chr22.hg19:g.38621517A>G	ENSP00000355210:p.Phe234Ser		A8K9D7|Q63HM8|Q7Z421|Q8NBM5|Q9UGT8|Q9UGT9|Q9UGV5	Missense_Mutation	SNP	ENST00000361906.3	hg19	CCDS13969.2	.	.	.	.	.	.	.	.	.	.	A	18.13	3.556279	0.65425	.	.	ENSG00000198792	ENST00000361906;ENST00000361684	T;T	0.40756	1.02;1.02	5.85	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.38532	0.1044	L	0.55743	1.74	0.80722	D	1	B	0.17465	0.022	B	0.18263	0.021	T	0.12578	-1.0542	10	0.32370	T	0.25	-14.3997	12.0788	0.53659	0.8709:0.0:0.0:0.1291	.	234	Q9Y519	T184B_HUMAN	S	234	ENSP00000355210:F234S;ENSP00000354441:F234S	ENSP00000354441:F234S	F	-	2	0	TMEM184B	36951463	1.000000	0.71417	0.732000	0.30844	0.884000	0.51177	9.339000	0.96797	0.982000	0.38575	0.533000	0.62120	TTC		0.597	TMEM184B-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075445.4	NM_012264		G	38621517	A	G	38621517	3	3	682	1	0	0	0	0	1	0	0	0	16110	246	9	3	534	3	TMEM184B	22	38621517	Missense_Mutation	SNP	A	TCGA-IA-A83T-01A-11D-A34Z-10	8497856	38621517	12683049	57	37708											
MXRA5	25878	hgsc.bcm.edu	37	X	3229194	3229194	+	Missense_Mutation	SNP	G	G	T			TCGA-IA-A83T-01A-11D-A34Z-10	TCGA-IA-A83T-11A-11D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	580ff01c-dd91-46ed-a426-7b2afea92207	cfd3629b-47b9-4934-86ab-9695c9f95668	g.chrX:3229194G>T	ENST00000217939.6	-	7	7204	c.7050C>A	c.(7048-7050)aaC>aaA	p.N2350K		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2350	Ig-like C2-type 8.					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)				AGTAAGTCTTGTTCCGGATGG	0.562																																																0													152	124	133					X																	3229194		2203	4300	6503	SO:0001583	missense	25878			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.7050C>A	chrX.hg19:g.3229194G>T	ENSP00000217939:p.Asn2350Lys		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	hg19	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	G	11.57	1.677795	0.29783	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.62941	-0.01	4.29	1.46	0.22682	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.41294	U	0.000913	T	0.61825	0.2378	L	0.43152	1.355	0.33584	D	0.600307	D	0.59767	0.986	D	0.63381	0.914	T	0.63739	-0.6569	10	0.11182	T	0.66	.	7.8018	0.29178	0.4656:0.0:0.5344:0.0	.	2350	Q9NR99	MXRA5_HUMAN	K	2350	ENSP00000217939:N2350K	ENSP00000217939:N2350K	N	-	3	2	MXRA5	3239194	0.999000	0.42202	0.794000	0.32065	0.289000	0.27227	0.507000	0.22675	-0.097000	0.12307	0.597000	0.82753	AAC		0.562	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		T	3229194	G	T	3229194	3	4	682	1	0	0	0	0	1	0	0	0	10005	1368	48	4	1440	4	MXRA5	23	3229194	Missense_Mutation	SNP	G	TCGA-IA-A83T-01A-11D-A34Z-10		3229194	152041366	58	37709											
AR	367	hgsc.bcm.edu	37	X	66765167	66765167	+	Missense_Mutation	SNP	A	A	T			TCGA-IA-A83T-01A-11D-A34Z-10	TCGA-IA-A83T-11A-11D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	580ff01c-dd91-46ed-a426-7b2afea92207	cfd3629b-47b9-4934-86ab-9695c9f95668	g.chrX:66765167A>T	ENST00000374690.3	+	1	703	c.179A>T	c.(178-180)cAg>cTg	p.Q60L	AR_ENST00000513847.1_3'UTR|AR_ENST00000504326.1_Missense_Mutation_p.Q60L|AR_ENST00000396044.3_Missense_Mutation_p.Q60L	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	60	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)			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)	CTgcagcagcagcagcagcag	0.677									Androgen Insensitivity Syndrome																																							0			GRCh37	CI994028	AR	I							6	9	8					X																	66765167		1971	3901	5872	SO:0001583	missense	367	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"Nuclear hormone receptors"	644	protein-coding gene	gene with protein product	"testicular feminization", "Kennedy disease"	313700	"dihydrotestosterone receptor", "spinal and bulbar muscular atrophy"	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.179A>T	chrX.hg19:g.66765167A>T	ENSP00000363822:p.Gln60Leu		A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	ENST00000374690.3	hg19	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	a	11.27	1.588228	0.28357	.	.	ENSG00000169083	ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	T;T;T	0.57436	0.4;0.4;0.4	.	.	.	.	1.241110	0.06210	N	0.684797	T	0.29288	0.0729	N	0.19112	0.55	0.09310	N	0.999999	P;P;.	0.36048	0.534;0.534;.	B;B;.	0.29862	0.08;0.108;.	T	0.11494	-1.0585	8	0.12103	T	0.63	.	.	.	.	.	60;60;58	E7EVX6;D3YPQ2;P10275	.;.;ANDR_HUMAN	L	60	ENSP00000363822:Q60L;ENSP00000421155:Q60L;ENSP00000379359:Q60L	ENSP00000363822:Q60L	Q	+	2	0	AR	66681892	0.997000	0.39634	0.860000	0.33809	0.513000	0.34164	1.220000	0.32491	0.000000	0.14550	0.000000	0.15137	CAG		0.677	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		T	66765167	A	T	66765167	3	4	682	1	0	0	0	0	1	0	0	0	836	188	7	5	181	5	AR	23	66765167	Missense_Mutation	SNP	A	TCGA-IA-A83T-01A-11D-A34Z-10	63535973	66765167	88505393	59	37710											
STAG2	10735	hgsc.bcm.edu	37	X	123229293	123229293	+	Missense_Mutation	SNP	T	T	A			TCGA-IA-A83T-01A-11D-A34Z-10	TCGA-IA-A83T-11A-11D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	580ff01c-dd91-46ed-a426-7b2afea92207	cfd3629b-47b9-4934-86ab-9695c9f95668	g.chrX:123229293T>A	ENST00000371160.1	+	33	3956	c.3666T>A	c.(3664-3666)gaT>gaA	p.D1222E	STAG2_ENST00000371144.3_Missense_Mutation_p.D1222E|STAG2_ENST00000371145.3_Missense_Mutation_p.D1259E|STAG2_ENST00000354548.5_Missense_Mutation_p.D1153E|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Missense_Mutation_p.D1259E|STAG2_ENST00000371157.3_Missense_Mutation_p.D1222E	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	1222					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						CAATTATGGATGAATCAGTAG	0.393																																																0													107	95	99					X																	123229293		2203	4300	6503	SO:0001583	missense	10735			Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.3666T>A	chrX.hg19:g.123229293T>A	ENSP00000360202:p.Asp1222Glu		B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Missense_Mutation	SNP	ENST00000371160.1	hg19	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	T	18.32	3.599001	0.66332	.	.	ENSG00000101972	ENST00000218089;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	T;T;T;T;T;T	0.51817	1.46;0.76;0.69;0.69;1.46;0.69	4.94	3.77	0.43336	.	0.115346	0.56097	N	0.000023	T	0.51007	0.1649	L	0.41492	1.28	0.45403	D	0.998383	D;D	0.59767	0.984;0.986	P;P	0.60609	0.877;0.81	T	0.41378	-0.9512	10	0.36615	T	0.2	-11.9936	7.9773	0.30161	0.0:0.1694:0.0:0.8306	.	1259;1222	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	E	1259;1153;1222;1222;1259;1222	ENSP00000218089:D1259E;ENSP00000346555:D1153E;ENSP00000360202:D1222E;ENSP00000360199:D1222E;ENSP00000360187:D1259E;ENSP00000360186:D1222E	ENSP00000218089:D1259E	D	+	3	2	STAG2	123056974	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.616000	0.36933	0.558000	0.29135	-0.438000	0.05819	GAT		0.393	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		A	123229293	T	A	123229293	3	1	682	1	0	0	0	0	1	0	0	0	15248	1461	51	5	3903	5	STAG2	23	123229293	Missense_Mutation	SNP	T	TCGA-IA-A83T-01A-11D-A34Z-10	56464126	123229293	32041267	60	37711											
MAGEA4	4103	hgsc.bcm.edu	37	X	151092975	151092975	+	Missense_Mutation	SNP	C	C	T			TCGA-IA-A83T-01A-11D-A34Z-10	TCGA-IA-A83T-11A-11D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	580ff01c-dd91-46ed-a426-7b2afea92207	cfd3629b-47b9-4934-86ab-9695c9f95668	g.chrX:151092975C>T	ENST00000360243.2	+	3	1106	c.839C>T	c.(838-840)gCt>gTt	p.A280V	MAGEA4_ENST00000393920.1_Missense_Mutation_p.A280V|MAGEA4_ENST00000370337.4_Missense_Mutation_p.A280V|MAGEA4_ENST00000370335.1_Missense_Mutation_p.A280V|MAGEA4_ENST00000276344.2_Missense_Mutation_p.A280V|MAGEA4_ENST00000370340.3_Missense_Mutation_p.A280V|MAGEA4_ENST00000393921.1_Missense_Mutation_p.A280V	NM_001011550.1	NP_001011550.1	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	280	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									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)					AGGGCTCTGGCTGAAACCAGC	0.552																																																0													132	130	131					X																	151092975		2203	4300	6503	SO:0001583	missense	4103				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.839C>T	chrX.hg19:g.151092975C>T	ENSP00000353379:p.Ala280Val		Q14798	Missense_Mutation	SNP	ENST00000360243.2	hg19	CCDS14702.1	.	.	.	.	.	.	.	.	.	.	C	9.150	1.016148	0.19355	.	.	ENSG00000147381	ENST00000276344;ENST00000393921;ENST00000370337;ENST00000393920;ENST00000370340;ENST00000370335;ENST00000360243	T;T;T;T;T;T;T	0.04809	3.55;3.55;3.55;3.55;3.55;3.55;3.55	2.55	0.688	0.18027	.	0.916903	0.09375	N	0.810810	T	0.05960	0.0155	M	0.64997	1.995	0.09310	N	1	B	0.20671	0.047	B	0.17722	0.019	T	0.41680	-0.9495	9	.	.	.	.	4.6093	0.12395	0.0:0.6542:0.0:0.3458	.	280	P43358	MAGA4_HUMAN	V	280	ENSP00000276344:A280V;ENSP00000377498:A280V;ENSP00000359362:A280V;ENSP00000377497:A280V;ENSP00000359365:A280V;ENSP00000359360:A280V;ENSP00000353379:A280V	.	A	+	2	0	MAGEA4	150843631	0.001000	0.12720	0.013000	0.15412	0.030000	0.12068	0.332000	0.19751	0.058000	0.16222	0.292000	0.19580	GCT		0.552	MAGEA4-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060898.1	NM_002362		T	151092975	C	T	151092975	3	4	682	1	0	0	0	0	1	0	0	0	9170	797	28	2	841	2	MAGEA4	23	151092975	Missense_Mutation	SNP	C	TCGA-IA-A83T-01A-11D-A34Z-10	27863682	151092975	4177585	61	37712											
HSPG2	3339	hgsc.bcm.edu	37	1	22173002	22173002	+	Missense_Mutation	SNP	C	C	G			TCGA-IA-A83V-01A-11D-A34Z-10	TCGA-IA-A83V-11A-11D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f9166f6-9ec6-4026-b8b0-23be6e2c7cdd	d632f44e-8673-43b1-9b56-519cdbbd3008	g.chr1:22173002C>G	ENST00000374695.3	-	63	8334	c.8255G>C	c.(8254-8256)gGg>gCg	p.G2752A	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2752	Ig-like C2-type 13.				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)	ATGGGCCTGCCCGGGGACCAC	0.637																																																0													63	65	64					1																	22173002		2203	4300	6503	SO:0001583	missense	3339			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.8255G>C	chr1.hg19:g.22173002C>G	ENSP00000363827:p.Gly2752Ala		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	hg19	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.156178	0.78114	.	.	ENSG00000142798	ENST00000374695;ENST00000453796	T;T	0.79141	-1.24;-1.24	4.94	4.94	0.65067	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.40385	N	0.001115	D	0.89012	0.6594	M	0.86953	2.85	0.53688	D	0.999979	D;P	0.76494	0.999;0.861	D;P	0.73380	0.98;0.668	D	0.90625	0.4562	10	0.59425	D	0.04	.	15.683	0.77388	0.0:1.0:0.0:0.0	.	692;2752	Q59EG0;P98160	.;PGBM_HUMAN	A	2752;167	ENSP00000363827:G2752A;ENSP00000396310:G167A	ENSP00000363827:G2752A	G	-	2	0	HSPG2	22045589	0.643000	0.27269	0.987000	0.45799	0.931000	0.56810	5.418000	0.66429	2.292000	0.77174	0.561000	0.74099	GGG		0.637	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		G	22173002	C	G	22173002	3	3	683	1	0	0	0	0	1	0	0	0	7432	623	22	4	5060	4	HSPG2	1	22173002	Missense_Mutation	SNP	C	TCGA-IA-A83V-01A-11D-A34Z-10		22173002	227077619	1	37713											
LUZP1	7798	hgsc.bcm.edu	37	1	23418024	23418024	+	Missense_Mutation	SNP	C	C	G			TCGA-IA-A83V-01A-11D-A34Z-10	TCGA-IA-A83V-11A-11D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f9166f6-9ec6-4026-b8b0-23be6e2c7cdd	d632f44e-8673-43b1-9b56-519cdbbd3008	g.chr1:23418024C>G	ENST00000302291.4	-	4	3532	c.2731G>C	c.(2731-2733)Ggc>Cgc	p.G911R	LUZP1_ENST00000418342.1_Missense_Mutation_p.G911R|LUZP1_ENST00000374623.3_Missense_Mutation_p.G911R|LUZP1_ENST00000314174.5_Missense_Mutation_p.G911R			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	911					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)				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)		TCTGAGAAGCCCACTTCTGAA	0.493																																																0													96	90	92					1																	23418024		2203	4300	6503	SO:0001583	missense	7798			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.2731G>C	chr1.hg19:g.23418024C>G	ENSP00000303758:p.Gly911Arg		Q5TH93|Q8N4X3|Q8TEH1	Missense_Mutation	SNP	ENST00000302291.4	hg19	CCDS30628.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.962845	0.34659	.	.	ENSG00000169641	ENST00000418342;ENST00000374623;ENST00000302291;ENST00000314174	T;T;T;T	0.14266	2.74;2.74;2.74;2.52	5.28	4.37	0.52481	.	0.508271	0.16793	N	0.199305	T	0.14313	0.0346	L	0.36672	1.1	0.09310	N	1	P;P	0.46512	0.879;0.879	P;P	0.45167	0.472;0.472	T	0.07712	-1.0758	10	0.62326	D	0.03	.	9.6043	0.39624	0.0:0.8325:0.0:0.1675	.	911;911	Q86V48-2;Q86V48	.;LUZP1_HUMAN	R	911	ENSP00000393460:G911R;ENSP00000363752:G911R;ENSP00000303758:G911R;ENSP00000313705:G911R	ENSP00000303758:G911R	G	-	1	0	LUZP1	23290611	0.000000	0.05858	0.085000	0.20634	0.692000	0.40212	0.624000	0.24462	1.253000	0.44018	0.485000	0.47835	GGC		0.493	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3	NM_033631		G	23418024	C	G	23418024	3	3	683	1	0	0	0	0	1	0	0	0	9088	623	22	4	507	4	LUZP1	1	23418024	Missense_Mutation	SNP	C	TCGA-IA-A83V-01A-11D-A34Z-10	1245022	23418024	225832597	2	37714											
FAF1	11124	hgsc.bcm.edu	37	1	51253751	51253751	+	Silent	SNP	C	C	T			TCGA-IA-A83V-01A-11D-A34Z-10	TCGA-IA-A83V-11A-11D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f9166f6-9ec6-4026-b8b0-23be6e2c7cdd	d632f44e-8673-43b1-9b56-519cdbbd3008	g.chr1:51253751C>T	ENST00000396153.2	-	4	739	c.288G>A	c.(286-288)agG>agA	p.R96R	FAF1_ENST00000371778.4_Silent_p.R96R	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	96					apoptotic process (GO:0006915)|cell death (GO:0008219)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein complex assembly (GO:0031334)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of cell adhesion (GO:0030155)|regulation of protein catabolic process (GO:0042176)|regulation of protein kinase activity (GO:0045859)	CD95 death-inducing signaling complex (GO:0031265)|Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	heat shock protein binding (GO:0031072)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.0?(3)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		TCCGAGGTTGCCTTTCTACAA	0.458																																																3	Whole gene deletion(3)	thyroid(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)											120	102	108					1																	51253751		2203	4300	6503	SO:0001819	synonymous_variant	11124			AF132938	CCDS554.1	1p32.3	2012-09-20			ENSG00000185104	ENSG00000185104		"UBX domain containing"	3578	protein-coding gene	gene with protein product	"TNFRSF6-associated factor 1", "UBX domain protein 3A"	604460				10462485	Standard	NM_007051		Approved	CGI-03, hFAF1, HFAF1s, UBXD12, UBXN3A	uc001cse.1	Q9UNN5	OTTHUMG00000007930	ENST00000396153.2:c.288G>A	chr1.hg19:g.51253751C>T			Q549F0|Q9UF34|Q9UNT3|Q9Y2Z3	Silent	SNP	ENST00000396153.2	hg19	CCDS554.1																																																																																				0.458	FAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021807.1	NM_007051		T	51253751	C	T	51253751	2	4	683	1	0	0	0	0	0	0	0	1	5371	738	26	2		2	FAF1	1	51253751	Silent	SNP	C	TCGA-IA-A83V-01A-11D-A34Z-10	27835727	51253751	197996870	3	37715											
RPRD2	23248	hgsc.bcm.edu	37	1	150337220	150337220	+	Silent	SNP	T	T	C			TCGA-IA-A83V-01A-11D-A34Z-10	TCGA-IA-A83V-11A-11D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f9166f6-9ec6-4026-b8b0-23be6e2c7cdd	d632f44e-8673-43b1-9b56-519cdbbd3008	g.chr1:150337220T>C	ENST00000369068.4	+	1	34	c.30T>C	c.(28-30)agT>agC	p.S10S	RPRD2_ENST00000492220.1_Intron|RPRD2_ENST00000401000.4_Silent_p.S10S|RPRD2_ENST00000369067.3_Silent_p.S10S|RPRD2_ENST00000539519.1_Silent_p.S10S	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	10	Gly/Ser-rich.					DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GAGGCAGCAGTAAGGCCTCCT	0.667																																																0													35	33	33					1																	150337220		692	1591	2283	SO:0001819	synonymous_variant	23248			BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"KIAA0460"	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.30T>C	chr1.hg19:g.150337220T>C			A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Silent	SNP	ENST00000369068.4	hg19	CCDS44216.1																																																																																				0.667	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203		C	150337220	T	C	150337220	2	2	683	1	0	0	0	0	0	0	0	1	13623	1635	57	3		3	RPRD2	1	150337220	Silent	SNP	T	TCGA-IA-A83V-01A-11D-A34Z-10	99083469	150337220	98913401	4	37716											
TNFAIP8L2	79626	hgsc.bcm.edu	37	1	151131378	151131379	+	Missense_Mutation	DNP	AA	AA	GG			TCGA-IA-A83V-01A-11D-A34Z-10	TCGA-IA-A83V-11A-11D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f9166f6-9ec6-4026-b8b0-23be6e2c7cdd	d632f44e-8673-43b1-9b56-519cdbbd3008	g.chr1:151131378_151131379AA>GG	ENST00000368910.3	+	2	331_332	c.205_206AA>GG	c.(205-207)AAg>GGg	p.K69G		NM_024575.4	NP_078851.2	Q6P589	TP8L2_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 2	69					innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of T cell activation (GO:0050868)	cytoplasm (GO:0005737)				lung(1)|skin(2)	3	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)			AGTGGCCATCAAGGTGGCTGTG	0.624																																																0																																										SO:0001583	missense	79626			BC063014	CCDS985.1	1q21.2	2008-02-05			ENSG00000163154	ENSG00000163154			26277	protein-coding gene	gene with protein product		612112					Standard	NM_024575		Approved	FLJ23467	uc001ewx.2	Q6P589	OTTHUMG00000012259	Exception_encountered	chr1.hg19:g.151131378_151131379delinsGG	ENSP00000357906:p.Lys69Gly		Q6I9Y0|Q9H2H7|Q9H5G2	Missense_Mutation	SNP	ENST00000368910.3	hg19	CCDS985.1																																																																																				0.624	TNFAIP8L2-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034069.2	NM_024575		GG	151131379	AA	GG	151131378	3	3	683	1	0	0	0	0	1	0	0	0	16283	131	5	3	207	3	TNFAIP8L2	1	151131378	Missense_Mutation	DNP	AA	TCGA-IA-A83V-01A-11D-A34Z-10	794158	151131378	98119243	5	37717											
FMO1	2326	hgsc.bcm.edu	37	1	171254631	171254631	+	Missense_Mutation	SNP	A	A	G			TCGA-IA-A83V-01A-11D-A34Z-10	TCGA-IA-A83V-11A-11D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f9166f6-9ec6-4026-b8b0-23be6e2c7cdd	d632f44e-8673-43b1-9b56-519cdbbd3008	g.chr1:171254631A>G	ENST00000354841.4	+	8	1678	c.1547A>G	c.(1546-1548)aAa>aGa	p.K516R	FMO1_ENST00000402921.2_Missense_Mutation_p.K453R|FMO1_ENST00000367750.3_Missense_Mutation_p.K516R|FMO1_ENST00000469112.1_3'UTR	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	516					NADPH oxidation (GO:0070995)|organic acid metabolic process (GO:0006082)|small molecule metabolic process (GO:0044281)|toxin metabolic process (GO:0009404)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|monooxygenase activity (GO:0004497)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Cevimeline(DB00185)|Cimetidine(DB00501)|Lorcaserin(DB04871)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	AGTTTTCTTAAAGTCTTTAGC	0.403																																																0													67	70	69					1																	171254631		2203	4300	6503	SO:0001583	missense	2326			M64082	CCDS1294.1, CCDS60351.1	1q24.3	2011-08-04			ENSG00000010932	ENSG00000010932	1.14.13.8		3769	protein-coding gene	gene with protein product		136130					Standard	XM_005245037		Approved		uc001ghl.3	Q01740	OTTHUMG00000035502	ENST00000354841.4:c.1547A>G	chr1.hg19:g.171254631A>G	ENSP00000346901:p.Lys516Arg		A8K248|B7Z3P4|Q5QPT2|Q9UJC2	Missense_Mutation	SNP	ENST00000354841.4	hg19	CCDS1294.1	.	.	.	.	.	.	.	.	.	.	A	14.23	2.473896	0.43942	.	.	ENSG00000010932	ENST00000367750;ENST00000402921;ENST00000354841	T;T;T	0.58060	0.36;0.36;0.36	5.61	3.27	0.37495	.	0.384897	0.27185	N	0.020536	T	0.24314	0.0589	L	0.58101	1.795	0.30209	N	0.7979	B;B	0.26672	0.053;0.156	B;B	0.30105	0.078;0.111	T	0.14924	-1.0455	10	0.22706	T	0.39	-12.9555	6.2625	0.20907	0.7559:0.1615:0.0825:0.0	.	453;516	B7Z3P4;Q01740	.;FMO1_HUMAN	R	516;453;516	ENSP00000356724:K516R;ENSP00000385543:K453R;ENSP00000346901:K516R	ENSP00000346901:K516R	K	+	2	0	FMO1	169521255	0.025000	0.19082	0.815000	0.32552	0.356000	0.29392	0.808000	0.27154	0.401000	0.25424	0.455000	0.32223	AAA		0.403	FMO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086212.1	NM_002021		G	171254631	A	G	171254631	3	3	683	1	0	0	0	0	1	0	0	0	5956	14	1	3	1577	3	FMO1	1	171254631	Missense_Mutation	SNP	A	TCGA-IA-A83V-01A-11D-A34Z-10	20123253	171254631	77995990	6	37718											
CENPF	1063	hgsc.bcm.edu	37	1	214832273	214832273	+	Missense_Mutation	SNP	C	C	A			TCGA-IA-A83V-01A-11D-A34Z-10	TCGA-IA-A83V-11A-11D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f9166f6-9ec6-4026-b8b0-23be6e2c7cdd	d632f44e-8673-43b1-9b56-519cdbbd3008	g.chr1:214832273C>A	ENST00000366955.3	+	19	9211	c.9043C>A	c.(9043-9045)Ctg>Atg	p.L3015M		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	3111	Sufficient for centromere localization.|Sufficient for nuclear localization.				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)		CAGCCCCCGCCTGGCTGCACA	0.512											OREG0014250	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(80;575 1284 11000 14801 43496)											0													113	116	115					1																	214832273		2203	4300	6503	SO:0001583	missense	1063			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"mitosin"	600236	"centromere protein F, 350/400kDa (mitosin)"			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.9043C>A	chr1.hg19:g.214832273C>A	ENSP00000355922:p.Leu3015Met	2224	Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	hg19	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.025949	0.75390	.	.	ENSG00000117724	ENST00000366955	T	0.12879	2.64	5.63	4.7	0.59300	.	0.261378	0.20300	N	0.095055	T	0.34424	0.0897	M	0.65498	2.005	0.33693	D	0.613617	D	0.76494	0.999	D	0.66716	0.946	T	0.52525	-0.8564	10	0.87932	D	0	.	14.088	0.64971	0.0:0.9273:0.0:0.0727	.	3111	P49454	CENPF_HUMAN	M	3015	ENSP00000355922:L3015M	ENSP00000355922:L3015M	L	+	1	2	CENPF	212898896	0.801000	0.28930	0.995000	0.50966	0.940000	0.58332	1.933000	0.40153	1.351000	0.45789	0.655000	0.94253	CTG		0.512	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		A	214832273	C	A	214832273	3	1	683	1	0	0	0	0	1	0	0	0	3233	680	24	4	9113	4	CENPF	1	214832273	Missense_Mutation	SNP	C	TCGA-IA-A83V-01A-11D-A34Z-10	43577642	214832273	34418348	7	37719											
CEP170	9859	hgsc.bcm.edu	37	1	243328302	243328302	+	Missense_Mutation	SNP	T	T	G			TCGA-IA-A83V-01A-11D-A34Z-10	TCGA-IA-A83V-11A-11D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f9166f6-9ec6-4026-b8b0-23be6e2c7cdd	d632f44e-8673-43b1-9b56-519cdbbd3008	g.chr1:243328302T>G	ENST00000366542.1	-	13	3011	c.2960A>C	c.(2959-2961)aAa>aCa	p.K987T	CEP170_ENST00000490813.1_5'Flank|RP11-261C10.4_ENST00000422938.1_RNA|RP11-261C10.4_ENST00000437499.1_RNA|CEP170_ENST00000366544.1_Missense_Mutation_p.K889T|CEP170_ENST00000366543.1_Missense_Mutation_p.K889T	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	987	Targeting to microtubules.					centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			CTTTTCCATTTTTTCCCTAGC	0.408																																																0													41	40	40					1																	243328302		1832	4062	5894	SO:0001583	missense	9859			AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"KARP 1 binding protein", "XRCC5 binding protein"	613023	"KIAA0470"	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.2960A>C	chr1.hg19:g.243328302T>G	ENSP00000355500:p.Lys987Thr		O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	ENST00000366542.1	hg19	CCDS44339.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.05|16.05	3.014245|3.014245	0.54468|0.54468	.|.	.|.	ENSG00000143702|ENSG00000143702	ENST00000336415|ENST00000366542;ENST00000366544;ENST00000366543	T|T;T;T	0.48836|0.51325	0.8|0.75;0.73;0.71	4.89|4.89	4.89|4.89	0.63831|0.63831	.|.	0.048059|0.048059	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.57770|0.57770	0.2076|0.2076	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.76494	.|0.997;0.996;0.996;0.999	.|D;D;D;D	.|0.80764	.|0.993;0.986;0.986;0.994	T|T	0.52290|0.52290	-0.8595|-0.8595	8|10	0.25751|0.20046	T|T	0.34|0.44	-17.5403|-17.5403	13.6896|13.6896	0.62537|0.62537	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|950;889;889;987	.|B1ARM6;Q5SW79-3;Q5SW79-2;Q5SW79	.|.;.;.;CE170_HUMAN	Q|T	951|987;889;889	ENSP00000338161:K951Q|ENSP00000355500:K987T;ENSP00000355502:K889T;ENSP00000355501:K889T	ENSP00000338161:K951Q|ENSP00000355500:K987T	K|K	-|-	1|2	0|0	CEP170|CEP170	241394925|241394925	1.000000|1.000000	0.71417|0.71417	0.941000|0.941000	0.38009|0.38009	0.962000|0.962000	0.63368|0.63368	5.584000|5.584000	0.67490|0.67490	1.823000|1.823000	0.53134|0.53134	0.454000|0.454000	0.30748|0.30748	AAA|AAA		0.408	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812		G	243328302	T	G	243328302	3	3	683	1	0	0	0	0	1	0	0	0	3252	1841	64	5	1856	5	CEP170	1	243328302	Missense_Mutation	SNP	T	TCGA-IA-A83V-01A-11D-A34Z-10	28496029	243328302	5922319	8	37720											
SPDYA	55006	hgsc.bcm.edu	37	2	29072767	29072767	+	3'UTR	SNP	A	A	G			TCGA-IA-A83V-01A-11D-A34Z-10	TCGA-IA-A83V-11A-11D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f9166f6-9ec6-4026-b8b0-23be6e2c7cdd	d632f44e-8673-43b1-9b56-519cdbbd3008	g.chr2:29072767A>G	ENST00000306108.5	-	0	1755				SPDYA_ENST00000334056.5_Missense_Mutation_p.K301R|TRMT61B_ENST00000484060.1_5'Flank|SPDYA_ENST00000379579.4_Missense_Mutation_p.K301R	NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)						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						TTCTTGAAGAAAGACAAATCT	0.299																																																0													50	55	53					2																	29072767		2203	4297	6500	SO:0001624	3_prime_UTR_variant	245711			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.*298T>C	chr2.hg19:g.29072767A>G			Q9H0Q9|Q9NWS7	Missense_Mutation	SNP	ENST00000306108.5	hg19	CCDS1768.1	.	.	.	.	.	.	.	.	.	.	A	12.94	2.087655	0.36855	.	.	ENSG00000163806	ENST00000379579;ENST00000334056	.	.	.	5.63	3.16	0.36331	.	0.231056	0.21337	U	0.076194	T	0.42966	0.1226	L	0.44542	1.39	0.80722	D	1	B	0.24823	0.112	B	0.19148	0.024	T	0.13388	-1.0511	9	0.15066	T	0.55	-0.301	8.0324	0.30472	0.7234:0.1417:0.0:0.1349	.	301	Q5MJ70	SPDYA_HUMAN	R	301	.	ENSP00000335628:K301R	K	+	2	0	SPDYA	28926271	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.333000	0.43912	0.441000	0.26529	0.533000	0.62120	AAA		0.299	TRMT61B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250224.1	NM_017910		G	29072767	A	G	29072767	1	3	683	0	1	0	0	0	0	0	0	0	15032	14	1	3		3	SPDYA	2	29072767	3'UTR	SNP	A	TCGA-IA-A83V-01A-11D-A34Z-10		29072767	214126606	9	37721											
FBXO11	80204	hgsc.bcm.edu	37	2	48040432	48040432	+	Missense_Mutation	SNP	C	C	A			TCGA-IA-A83V-01A-11D-A34Z-10	TCGA-IA-A83V-11A-11D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f9166f6-9ec6-4026-b8b0-23be6e2c7cdd	d632f44e-8673-43b1-9b56-519cdbbd3008	g.chr2:48040432C>A	ENST00000403359.3	-	18	2240	c.2168G>T	c.(2167-2169)aGa>aTa	p.R723I	FBXO11_ENST00000434523.2_Missense_Mutation_p.R147I|FBXO11_ENST00000316377.4_Missense_Mutation_p.R639I|FBXO11_ENST00000402508.1_Missense_Mutation_p.R639I	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	723					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)			TTTATTTCTTCTTAGTGTAGG	0.343			"Mis, F, D"		DLBCL																																		Rec	yes		2	2p16.3	80204	F-box protein 11		L	2	Whole gene deletion(2)	haematopoietic_and_lymphoid_tissue(2)											120	123	122					2																	48040432		2203	4299	6502	SO:0001583	missense	80204			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.2168G>T	chr2.hg19:g.48040432C>A	ENSP00000384823:p.Arg723Ile		A1L491|Q52ZP1|Q53EP7|Q53RT5|Q8IXG3|Q96E90|Q9H6V8|Q9H9L1|Q9NR14|Q9UFK1|Q9UHI1|Q9UKC2	Missense_Mutation	SNP	ENST00000403359.3	hg19	CCDS54357.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.234868|5.234868	0.95207|0.95207	.|.	.|.	ENSG00000138081|ENSG00000138081	ENST00000493962|ENST00000402508;ENST00000403359;ENST00000316377;ENST00000434523	.|T;T;T;T	.|0.80214	.|-1.35;-1.35;-1.35;-1.35	5.25|5.25	5.25|5.25	0.73442|0.73442	.|Pectin lyase fold/virulence factor (1);Carbohydrate-binding/sugar hydrolysis domain (1);F-box domain, Skp2-like (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.90386|0.90386	0.6991|0.6991	M|M	0.80616|0.80616	2.505|2.505	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|0.999;1.0	.|D;D	.|0.81914	.|0.987;0.995	D|D	0.91390|0.91390	0.5134|0.5134	5|10	.|0.87932	.|D	.|0	-9.8728|-9.8728	19.1978|19.1978	0.93696|0.93696	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|147;723	.|B3KUR1;Q86XK2	.|.;FBX11_HUMAN	N|I	514|639;723;639;147	.|ENSP00000385398:R639I;ENSP00000384823:R723I;ENSP00000323822:R639I;ENSP00000397359:R147I	.|ENSP00000323822:R639I	K|R	-|-	3|2	2|0	FBXO11|FBXO11	47893936|47893936	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.776000|7.776000	0.85560|0.85560	2.597000|2.597000	0.87782|0.87782	0.655000|0.655000	0.94253|0.94253	AAG|AGA		0.343	FBXO11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251181.3	NM_012167, NM_018693, NM_025133		A	48040432	C	A	48040432	3	1	683	1	0	0	0	0	1	0	0	0	5729	913	32	4	725	4	FBXO11	2	48040432	Missense_Mutation	SNP	C	TCGA-IA-A83V-01A-11D-A34Z-10	18967665	48040432	195158941	10	37722											
FER1L5	90342	hgsc.bcm.edu	37	2	97361397	97361397	+	RNA	SNP	T	T	C			TCGA-IA-A83V-01A-11D-A34Z-10	TCGA-IA-A83V-11A-11D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f9166f6-9ec6-4026-b8b0-23be6e2c7cdd	d632f44e-8673-43b1-9b56-519cdbbd3008	g.chr2:97361397T>C	ENST00000457909.1	+	0	3396							A0AVI2	FR1L5_HUMAN	fer-1-like family member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						GTCCTCACAGTGGTAAGAGGC	0.612																																																0													25	29	28					2																	97361397		1923	4122	6045			90342			BC126368		2q11.2	2014-06-27	2014-06-27		ENSG00000249715	ENSG00000249715			19044	protein-coding gene	gene with protein product			"fer-1-like 5 (C. elegans)"				Standard	XM_006712826		Approved	DKFZp434I0121	uc010fia.3	A0AVI2	OTTHUMG00000154929		chr2.hg19:g.97361397T>C			Q17RH2|Q6ZU24	Missense_Mutation	SNP	ENST00000457909.1	hg19		.	.	.	.	.	.	.	.	.	.	T	7.763	0.705846	0.15172	.	.	ENSG00000214272	ENST00000414152;ENST00000436930;ENST00000397978	.	.	.	4.25	4.25	0.50352	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	.	.	.	.	T	0.46600	0.1401	L	0.55017	1.72	.	.	.	P;P	0.50819	0.939;0.72	P;B	0.45232	0.474;0.261	T	0.63879	-0.6537	7	0.59425	D	0.04	-6.2493	10.9692	0.47431	0.0:0.0:0.0:1.0	.	1325;43	A0AVI2;A0AVI2-2	FR1L5_HUMAN;.	A	1325;1339;43	.	ENSP00000442027:V43A	V	+	2	0	FER1L5	96725124	1.000000	0.71417	0.869000	0.34112	0.194000	0.23727	4.797000	0.62503	1.788000	0.52465	0.379000	0.24179	GTG		0.612	FER1L5-001	KNOWN	basic|exp_conf	retained_intron	pseudogene	OTTHUMT00000339030.1	NM_001077400		C	97361397	T	C	97361397	1	2	683	0	1	0	0	0	0	0	0	0	5816	1710	59	3		3	FER1L5	2	97361397	RNA	SNP	T	TCGA-IA-A83V-01A-11D-A34Z-10	49320965	97361397	145837976	11	37723											
DBR1	51163	hgsc.bcm.edu	37	3	137889003	137889003	+	Silent	SNP	A	A	G			TCGA-IA-A83V-01A-11D-A34Z-10	TCGA-IA-A83V-11A-11D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f9166f6-9ec6-4026-b8b0-23be6e2c7cdd	d632f44e-8673-43b1-9b56-519cdbbd3008	g.chr3:137889003A>G	ENST00000260803.4	-	4	588	c.435T>C	c.(433-435)tcT>tcC	p.S145S	DBR1_ENST00000505015.2_5'UTR|DBR1_ENST00000463982.2_5'Flank	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	145					mRNA splicing, via spliceosome (GO:0000398)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA lariat debranching enzyme activity (GO:0008419)			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TCCTGATTGTAGATGAATTAT	0.294																																																0													67	77	73					3																	137889003		2203	4297	6500	SO:0001819	synonymous_variant	51163			AF180919	CCDS33863.1	3q22.3	2013-05-01	2013-05-01		ENSG00000138231	ENSG00000138231			15594	protein-coding gene	gene with protein product		607024	"debranching enzyme (S. Cerevisiae) homolog 1", "debranching enzyme homolog 1 (S. cerevisiae)"			10982890	Standard	NM_016216		Approved		uc003erv.3	Q9UK59	OTTHUMG00000159824	ENST00000260803.4:c.435T>C	chr3.hg19:g.137889003A>G			Q96GH0|Q9NXQ6	Silent	SNP	ENST00000260803.4	hg19	CCDS33863.1																																																																																				0.294	DBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357585.1			G	137889003	A	G	137889003	2	3	683	1	0	0	0	0	0	0	0	1	4259	407	15	3		3	DBR1	3	137889003	Silent	SNP	A	TCGA-IA-A83V-01A-11D-A34Z-10		137889003	60133427	12	37724											
MED12L	116931	hgsc.bcm.edu	37	3	151148131	151148131	+	Silent	SNP	G	G	A	rs568498781	byFrequency	TCGA-IA-A83V-01A-11D-A34Z-10	TCGA-IA-A83V-11A-11D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f9166f6-9ec6-4026-b8b0-23be6e2c7cdd	d632f44e-8673-43b1-9b56-519cdbbd3008	g.chr3:151148131G>A	ENST00000474524.1	+	42	6386	c.6348G>A	c.(6346-6348)acG>acA	p.T2116T	MED12L_ENST00000273432.4_Silent_p.T1780T	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	2116	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)			AGCAGCAGACGGCCGCCTTGG	0.527													g|||	4	0.000798722	0.0	0.0	5008	,	,		16791	0.0		0.0	False		,,,				2504	0.0041															0													53	54	54					3																	151148131		2203	4300	6503	SO:0001819	synonymous_variant	116931			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.6348G>A	chr3.hg19:g.151148131G>A			Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Silent	SNP	ENST00000474524.1	hg19	CCDS33876.1																																																																																				0.527	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		A	151148131	G	A	151148131	2	1	683	1	0	0	0	0	0	0	0	1	9431	1103	39	1		1	MED12L	3	151148131	Silent	SNP	G	TCGA-IA-A83V-01A-11D-A34Z-10	13259128	151148131	46874299	13	37725											
CCNL1	57018	hgsc.bcm.edu	37	3	156870895	156870895	+	Missense_Mutation	SNP	T	T	C			TCGA-IA-A83V-01A-11D-A34Z-10	TCGA-IA-A83V-11A-11D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f9166f6-9ec6-4026-b8b0-23be6e2c7cdd	d632f44e-8673-43b1-9b56-519cdbbd3008	g.chr3:156870895T>C	ENST00000295926.3	-	4	657	c.539A>G	c.(538-540)cAa>cGa	p.Q180R	CCNL1_ENST00000479052.1_5'UTR|Y_RNA_ENST00000364908.1_RNA|CCNL1_ENST00000461804.1_Missense_Mutation_p.Q180R	NM_020307.2	NP_064703.1	Q9UK58	CCNL1_HUMAN	cyclin L1	180	Cyclin-like 1.				regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)|nucleus (GO:0005634)				NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			TTTGATAACTTGATTTTTGGT	0.383																																																0													115	102	106					3																	156870895		2203	4300	6503	SO:0001583	missense	57018			AF180920	CCDS3178.1	3q25.31	2008-02-05			ENSG00000163660	ENSG00000163660			20569	protein-coding gene	gene with protein product		613384				11980906	Standard	NM_020307		Approved	ania-6a	uc003fbf.3	Q9UK58	OTTHUMG00000158713	ENST00000295926.3:c.539A>G	chr3.hg19:g.156870895T>C	ENSP00000295926:p.Gln180Arg		B3KMY3|Q6NVY9|Q6UWS7|Q8NI48|Q96QT0|Q9NZF3	Missense_Mutation	SNP	ENST00000295926.3	hg19	CCDS3178.1	.	.	.	.	.	.	.	.	.	.	T	19.69	3.875402	0.72180	.	.	ENSG00000163660	ENST00000461804;ENST00000295926	T;T	0.12039	2.72;2.72	5.9	5.9	0.94986	Cyclin, N-terminal (1);Cyclin-like (3);	0.050844	0.85682	D	0.000000	T	0.22475	0.0542	L	0.37897	1.145	0.80722	D	1	B;P;P	0.36837	0.171;0.571;0.571	B;P;B	0.48738	0.124;0.588;0.386	T	0.01146	-1.1437	10	0.49607	T	0.09	-23.0591	16.3232	0.82961	0.0:0.0:0.0:1.0	.	180;180;180	Q9UK58-4;Q9UK58;C9JPL0	.;CCNL1_HUMAN;.	R	180	ENSP00000420277:Q180R;ENSP00000295926:Q180R	ENSP00000295926:Q180R	Q	-	2	0	CCNL1	158353589	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.587000	0.82613	2.254000	0.74563	0.482000	0.46254	CAA		0.383	CCNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351859.1	NM_020307		C	156870895	T	C	156870895	3	2	683	1	0	0	0	0	1	0	0	0	2933	1812	63	3	1073	3	CCNL1	3	156870895	Missense_Mutation	SNP	T	TCGA-IA-A83V-01A-11D-A34Z-10	5722764	156870895	41151535	14	37726											
NIPBL	25836	hgsc.bcm.edu	37	5	37020651	37020652	+	Frame_Shift_Del	DEL	TC	TC	-	rs139819353		TCGA-IA-A83V-01A-11D-A34Z-10	TCGA-IA-A83V-11A-11D-A34Z-10	TC	TC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f9166f6-9ec6-4026-b8b0-23be6e2c7cdd	d632f44e-8673-43b1-9b56-519cdbbd3008	g.chr5:37020651_37020652delTC	ENST00000282516.8	+	26	5600_5601	c.5101_5102delTC	c.(5101-5103)tctfs	p.S1701fs	NIPBL_ENST00000448238.2_Frame_Shift_Del_p.S1701fs	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1701					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)			TGAAGAATCATCTGAAGGAACA	0.361																																																0																																										SO:0001589	frameshift_variant	25836			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"sister chromatid cohesion 2 homolog (yeast)"	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.5101_5102delTC	chr5.hg19:g.37020651_37020652delTC	ENSP00000282516:p.Ser1701fs		Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Frame_Shift_Del	DEL	ENST00000282516.8	hg19	CCDS3920.1																																																																																				0.361	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		-	37020652	TC	-	37020651	7	5	683	1	0	1	0	1	0	0	0	0	10430	1435	50	0	5199	0	NIPBL	5	37020651	Frame_Shift_Del	DEL	TC	TCGA-IA-A83V-01A-11D-A34Z-10		37020651	143894609	15	37727											
VCAN	1462	hgsc.bcm.edu	37	5	82817377	82817377	+	Silent	SNP	T	T	A			TCGA-IA-A83V-01A-11D-A34Z-10	TCGA-IA-A83V-11A-11D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f9166f6-9ec6-4026-b8b0-23be6e2c7cdd	d632f44e-8673-43b1-9b56-519cdbbd3008	g.chr5:82817377T>A	ENST00000265077.3	+	7	3817	c.3252T>A	c.(3250-3252)tcT>tcA	p.S1084S	VCAN_ENST00000342785.4_Silent_p.S1084S|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Silent_p.S1036S|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1084	GAG-alpha (glucosaminoglycan attachment domain).				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)	TGACAGGTTCTGAGAGGGTCC	0.453																																																0													84	78	80					5																	82817377		2203	4300	6503	SO:0001819	synonymous_variant	1462			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.3252T>A	chr5.hg19:g.82817377T>A			P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Silent	SNP	ENST00000265077.3	hg19	CCDS4060.1																																																																																				0.453	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		A	82817377	T	A	82817377	2	1	683	1	0	0	0	0	0	0	0	1	17143	1567	55	5		5	VCAN	5	82817377	Silent	SNP	T	TCGA-IA-A83V-01A-11D-A34Z-10	45796726	82817377	98097883	16	37728											
ERAP1	51752	hgsc.bcm.edu	37	5	96126038	96126038	+	Silent	SNP	A	A	G			TCGA-IA-A83V-01A-11D-A34Z-10	TCGA-IA-A83V-11A-11D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f9166f6-9ec6-4026-b8b0-23be6e2c7cdd	d632f44e-8673-43b1-9b56-519cdbbd3008	g.chr5:96126038A>G	ENST00000443439.2	-	10	1551	c.1485T>C	c.(1483-1485)gaT>gaC	p.D495D	ERAP1_ENST00000296754.3_Silent_p.D495D	NM_001040458.1|NM_001198541.1	NP_001035548.1|NP_001185470.1	Q9NZ08	ERAP1_HUMAN	endoplasmic reticulum aminopeptidase 1	495					angiogenesis (GO:0001525)|antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|fat cell differentiation (GO:0045444)|membrane protein ectodomain proteolysis (GO:0006509)|positive regulation of angiogenesis (GO:0045766)|regulation of blood pressure (GO:0008217)|regulation of innate immune response (GO:0045088)|response to bacterium (GO:0009617)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|interleukin-1, Type II receptor binding (GO:0005151)|interleukin-6 receptor binding (GO:0005138)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		AGCAAAAGCCATCCATCCCTT	0.353																																																0													131	126	128					5																	96126038		2203	4300	6503	SO:0001819	synonymous_variant	51752			AB011097	CCDS4085.1, CCDS47250.1	5q15	2014-04-07			ENSG00000164307	ENSG00000164307			18173	protein-coding gene	gene with protein product	"aminopeptidase regulator of TNFR1 shedding", "adipocyte-derived leucine aminopeptidase", "puromycin-insensitive leucyl-specific aminopeptidase"	606832				10220586, 12189246, 16286653	Standard	NM_001198541		Approved	ARTS-1, A-LAP, PILS-AP, KIAA0525, ERAAP1	uc003kml.3	Q9NZ08	OTTHUMG00000128721	ENST00000443439.2:c.1485T>C	chr5.hg19:g.96126038A>G			O60278|Q6UWY6|Q8NEL4|Q8TAD0|Q9UHF8|Q9UKY2	Silent	SNP	ENST00000443439.2	hg19	CCDS47250.1																																																																																				0.353	ERAP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370699.1	NM_016442		G	96126038	A	G	96126038	2	3	683	1	0	0	0	0	0	0	0	1	5205	214	8	3		3	ERAP1	5	96126038	Silent	SNP	A	TCGA-IA-A83V-01A-11D-A34Z-10	13308661	96126038	84789222	17	37729											
AARS2	57505	hgsc.bcm.edu	37	6	44278164	44278164	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IA-A83V-01A-11D-A34Z-10	TCGA-IA-A83V-11A-11D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f9166f6-9ec6-4026-b8b0-23be6e2c7cdd	d632f44e-8673-43b1-9b56-519cdbbd3008	g.chr6:44278164delG	ENST00000244571.4	-	5	768	c.766delC	c.(766-768)ctgfs	p.L256fs	RP11-444E17.6_ENST00000505802.1_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)			AGGGGCTGCAGGCTTCCATCT	0.592																																																0													84	71	76					6																	44278164		2203	4300	6503	SO:0001589	frameshift_variant	57505			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.766delC	chr6.hg19:g.44278164delG	ENSP00000244571:p.Leu256fs			Frame_Shift_Del	DEL	ENST00000244571.4	hg19	CCDS34464.1																																																																																				0.592	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040741.2	NM_020745		-	44278164	G	-	44278164	7	5	683	1	0	1	0	1	0	0	0	0	20	991	35	0	2263	0	AARS2	6	44278164	Frame_Shift_Del	DEL	G	TCGA-IA-A83V-01A-11D-A34Z-10		44278164	126836903	18	37730											
UBE2J1	51465	hgsc.bcm.edu	37	6	90047953	90047953	+	Silent	SNP	A	A	T			TCGA-IA-A83V-01A-11D-A34Z-10	TCGA-IA-A83V-11A-11D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f9166f6-9ec6-4026-b8b0-23be6e2c7cdd	d632f44e-8673-43b1-9b56-519cdbbd3008	g.chr6:90047953A>T	ENST00000435041.2	-	5	677	c.399T>A	c.(397-399)acT>acA	p.T133T		NM_016021.2	NP_057105.2	Q9Y385	UB2J1_HUMAN	ubiquitin-conjugating enzyme E2, J1	133					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)			NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(11)|stomach(1)	18		all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0139)		TTTCCTCAGGAGTGTAATCTA	0.388																																																0													133	134	134					6																	90047953		2203	4300	6503	SO:0001819	synonymous_variant	51465			AJ245898	CCDS5021.1	6q15	2014-01-28	2012-06-08		ENSG00000198833	ENSG00000198833		"Ubiquitin-conjugating enzymes E2"	17598	protein-coding gene	gene with protein product			"ubiquitin-conjugating enzyme E2, J1 (UBC6 homolog, yeast)"			10708578	Standard	NM_016021		Approved	HSPC153, CGI-76, NCUBE1, UBC6	uc003pnc.3	Q9Y385	OTTHUMG00000016337	ENST00000435041.2:c.399T>A	chr6.hg19:g.90047953A>T			A8K3F9|Q53F25|Q5W0N4|Q9BZ32|Q9NQL3|Q9NY66|Q9P011|Q9P0S0|Q9UF10	Silent	SNP	ENST00000435041.2	hg19	CCDS5021.1																																																																																				0.388	UBE2J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043742.2	NM_016021		T	90047953	A	T	90047953	2	4	683	1	0	0	0	0	0	0	0	1	16865	291	11	5		5	UBE2J1	6	90047953	Silent	SNP	A	TCGA-IA-A83V-01A-11D-A34Z-10	45769789	90047953	81067114	19	37731											
RANBP6	26953	hgsc.bcm.edu	37	9	6013047	6013047	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IA-A83V-01A-11D-A34Z-10	TCGA-IA-A83V-11A-11D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f9166f6-9ec6-4026-b8b0-23be6e2c7cdd	d632f44e-8673-43b1-9b56-519cdbbd3008	g.chr9:6013047delA	ENST00000259569.5	-	1	2571	c.2561delT	c.(2560-2562)ttgfs	p.L854fs	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	854					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)		TAATGAGTGCAAAATATCTGA	0.333																																																0													63	64	63					9																	6013047		2203	4300	6503	SO:0001589	frameshift_variant	26953			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.2561delT	chr9.hg19:g.6013047delA	ENSP00000259569:p.Leu854fs		Q5T7X4|Q7Z3V2|Q96E78	Frame_Shift_Del	DEL	ENST00000259569.5	hg19	CCDS6467.1																																																																																				0.333	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1	NM_012416		-	6013047	A	-	6013047	7	5	683	1	0	1	0	1	0	0	0	0	13037	131	5	0	760	0	RANBP6	9	6013047	Frame_Shift_Del	DEL	A	TCGA-IA-A83V-01A-11D-A34Z-10		6013047	135200384	20	37732											
POMT1	10585	hgsc.bcm.edu	37	9	134379628	134379628	+	Missense_Mutation	SNP	C	C	T			TCGA-IA-A83V-01A-11D-A34Z-10	TCGA-IA-A83V-11A-11D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f9166f6-9ec6-4026-b8b0-23be6e2c7cdd	d632f44e-8673-43b1-9b56-519cdbbd3008	g.chr9:134379628C>T	ENST00000372228.3	+	2	202	c.23C>T	c.(22-24)cCt>cTt	p.P8L	POMT1_ENST00000354713.4_Missense_Mutation_p.P8L|POMT1_ENST00000341012.7_Intron|POMT1_ENST00000541219.1_Intron|POMT1_ENST00000404875.2_Intron|POMT1_ENST00000423007.1_Missense_Mutation_p.P8L|POMT1_ENST00000419118.2_Intron|POMT1_ENST00000402686.3_Missense_Mutation_p.P8L	NM_007171.3	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	8					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|mannosylation (GO:0097502)|multicellular organismal development (GO:0007275)|protein O-linked glycosylation (GO:0006493)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|sarcoplasmic reticulum (GO:0016529)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannosyltransferase activity (GO:0000030)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		TTGAAGCGCCCTGTAGTGGTG	0.597											OREG0019563	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													175	148	157					9																	134379628		2203	4300	6503	SO:0001583	missense	10585			AF095136	CCDS6943.1, CCDS43894.1, CCDS43895.1, CCDS48045.1	9q34.1	2014-09-17			ENSG00000130714	ENSG00000130714	2.4.1.109	"Dolichyl D-mannosyl phosphate dependent mannosyltransferases"	9202	protein-coding gene	gene with protein product	"dolichyl-phosphate-mannose-protein mannosyltransferase"	607423				10366449	Standard	NM_001077366		Approved	LGMD2K	uc004cav.3	Q9Y6A1	OTTHUMG00000020826	ENST00000372228.3:c.23C>T	chr9.hg19:g.134379628C>T	ENSP00000361302:p.Pro8Leu	1610	B3KQG0|B4DIF0|Q5JT01|Q5JT06|Q5JT08|Q8NC91|Q8TCA9|Q9NX32|Q9NX82|Q9UNT2	Missense_Mutation	SNP	ENST00000372228.3	hg19	CCDS6943.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.051297	0.55218	.	.	ENSG00000130714	ENST00000423007;ENST00000372228;ENST00000402686;ENST00000354713;ENST00000418774	D;D;D;D;T	0.90197	-1.61;-1.6;-1.61;-2.63;-1.18	5.02	5.02	0.67125	.	0.057319	0.64402	D	0.000001	D	0.94742	0.8303	M	0.73217	2.22	0.80722	D	1	D;D;D;P	0.89917	0.957;1.0;1.0;0.956	P;D;D;P	0.87578	0.463;0.998;0.998;0.664	D	0.94435	0.7653	10	0.45353	T	0.12	-20.8968	17.3307	0.87262	0.0:1.0:0.0:0.0	.	8;8;8;8	B4DTW4;B4DWD8;Q9Y6A1;Q9Y6A1-2	.;.;POMT1_HUMAN;.	L	8	ENSP00000404119:P8L;ENSP00000361302:P8L;ENSP00000385797:P8L;ENSP00000346748:P8L;ENSP00000390737:P8L	ENSP00000346748:P8L	P	+	2	0	POMT1	133369449	1.000000	0.71417	0.336000	0.25522	0.137000	0.21094	6.556000	0.73932	2.317000	0.78254	0.655000	0.94253	CCT		0.597	POMT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054737.1	NM_007171		T	134379628	C	T	134379628	3	4	683	1	0	0	0	0	1	0	0	0	12247	681	24	2	25	2	POMT1	9	134379628	Missense_Mutation	SNP	C	TCGA-IA-A83V-01A-11D-A34Z-10	128366581	134379628	6833803	21	37733											
SFMBT2	57713	hgsc.bcm.edu	37	10	7423824	7423824	+	Missense_Mutation	SNP	G	G	A			TCGA-IA-A83V-01A-11D-A34Z-10	TCGA-IA-A83V-11A-11D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f9166f6-9ec6-4026-b8b0-23be6e2c7cdd	d632f44e-8673-43b1-9b56-519cdbbd3008	g.chr10:7423824G>A	ENST00000361972.4	-	2	127	c.37C>T	c.(37-39)Cct>Tct	p.P13S	SFMBT2_ENST00000379713.3_Missense_Mutation_p.P13S|SFMBT2_ENST00000379711.2_Missense_Mutation_p.P13S|SFMBT2_ENST00000397167.1_Missense_Mutation_p.P13S|SFMBT2_ENST00000397160.3_Missense_Mutation_p.P13S	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	13					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						GAAGATGAAGGGTCTTGCATA	0.413																																																0													125	119	121					10																	7423824		2203	4300	6503	SO:0001583	missense	57713			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.37C>T	chr10.hg19:g.7423824G>A	ENSP00000355109:p.Pro13Ser		A7MD09|Q9HCF5	Missense_Mutation	SNP	ENST00000361972.4	hg19	CCDS31138.1	.	.	.	.	.	.	.	.	.	.	G	7.150	0.583667	0.13749	.	.	ENSG00000198879	ENST00000361972;ENST00000397167;ENST00000379713;ENST00000379711;ENST00000397160	T;T;T;T;T	0.29917	2.62;2.62;1.95;1.55;1.55	4.82	-3.95	0.04118	.	0.531028	0.16003	N	0.234228	T	0.11110	0.0271	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.28490	-1.0042	10	0.09843	T	0.71	.	0.1011	0.00048	0.27:0.2475:0.2071:0.2754	.	13;13	Q5T981;Q5VUG0	.;SMBT2_HUMAN	S	13	ENSP00000355109:P13S;ENSP00000380353:P13S;ENSP00000369035:P13S;ENSP00000369033:P13S;ENSP00000380346:P13S	ENSP00000355109:P13S	P	-	1	0	SFMBT2	7463830	0.552000	0.26505	0.000000	0.03702	0.043000	0.13939	0.403000	0.20982	-0.397000	0.07691	-0.158000	0.13435	CCT		0.413	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		A	7423824	G	A	7423824	3	1	683	1	0	0	0	0	1	0	0	0	14164	1232	43	2	2727	2	SFMBT2	10	7423824	Missense_Mutation	SNP	G	TCGA-IA-A83V-01A-11D-A34Z-10		7423824	128110923	22	37734											
FZD8	8325	hgsc.bcm.edu	37	10	35928674	35928674	+	Missense_Mutation	SNP	C	C	G			TCGA-IA-A83V-01A-11D-A34Z-10	TCGA-IA-A83V-11A-11D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f9166f6-9ec6-4026-b8b0-23be6e2c7cdd	d632f44e-8673-43b1-9b56-519cdbbd3008	g.chr10:35928674C>G	ENST00000374694.1	-	1	1688	c.1684G>C	c.(1684-1686)Gag>Cag	p.E562Q	MIR4683_ENST00000579659.1_RNA	NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled class receptor 8	562					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						TGCGTGGCCTCCCAGCGCGGG	0.667																																																0													35	34	34					10																	35928674		2198	4297	6495	SO:0001583	missense	8325			AB043703	CCDS7192.1	10p11.2	2014-01-29	2014-01-29		ENSG00000177283	ENSG00000177283		"GPCR / Class F : Frizzled receptors"	4046	protein-coding gene	gene with protein product		606146	"frizzled (Drosophila) homolog 8", "frizzled homolog 8 (Drosophila)", "frizzled 8, seven transmembrane spanning receptor", "frizzled family receptor 8"			11295046	Standard	NM_031866		Approved		uc001iyz.1	Q9H461	OTTHUMG00000017956	ENST00000374694.1:c.1684G>C	chr10.hg19:g.35928674C>G	ENSP00000363826:p.Glu562Gln			Missense_Mutation	SNP	ENST00000374694.1	hg19	CCDS7192.1	.	.	.	.	.	.	.	.	.	.	C	19.62	3.861563	0.71949	.	.	ENSG00000177283	ENST00000374694	D	0.81996	-1.56	3.25	3.25	0.37280	GPCR, family 2-like (1);	0.000000	0.64402	U	0.000001	D	0.90055	0.6894	M	0.81802	2.56	0.54753	D	0.999984	D	0.69078	0.997	D	0.70227	0.968	D	0.90388	0.4393	10	0.42905	T	0.14	.	14.6096	0.68507	0.0:1.0:0.0:0.0	.	562	Q9H461	FZD8_HUMAN	Q	562	ENSP00000363826:E562Q	ENSP00000363826:E562Q	E	-	1	0	FZD8	35968680	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.179000	0.77665	1.807000	0.52817	0.289000	0.19496	GAG		0.667	FZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047575.2	NM_031866		G	35928674	C	G	35928674	3	3	683	1	0	0	0	0	1	0	0	0	6138	864	30	4	404	4	FZD8	10	35928674	Missense_Mutation	SNP	C	TCGA-IA-A83V-01A-11D-A34Z-10	28504850	35928674	99606073	23	37735											
MKI67	4288	hgsc.bcm.edu	37	10	129904689	129904689	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IA-A83V-01A-11D-A34Z-10	TCGA-IA-A83V-11A-11D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f9166f6-9ec6-4026-b8b0-23be6e2c7cdd	d632f44e-8673-43b1-9b56-519cdbbd3008	g.chr10:129904689delT	ENST00000368654.3	-	13	5790	c.5415delA	c.(5413-5415)aaafs	p.K1805fs	MKI67_ENST00000368653.3_Frame_Shift_Del_p.K1445fs	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1805	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)				GCTGGTCCAGTTTCTGCACTG	0.493																																																0													170	163	165					10																	129904689		2203	4300	6503	SO:0001589	frameshift_variant	4288			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.5415delA	chr10.hg19:g.129904689delT	ENSP00000357643:p.Lys1805fs		Q5VWH2	Frame_Shift_Del	DEL	ENST00000368654.3	hg19	CCDS7659.1																																																																																				0.493	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		-	129904689	T	-	129904689	7	5	683	1	0	1	0	1	0	0	0	0	9600	1722	60	0	4367	0	MKI67	10	129904689	Frame_Shift_Del	DEL	T	TCGA-IA-A83V-01A-11D-A34Z-10	93976015	129904689	5630058	24	37736											
CAPRIN1	4076	hgsc.bcm.edu	37	11	34118208	34118208	+	Missense_Mutation	SNP	A	A	T			TCGA-IA-A83V-01A-11D-A34Z-10	TCGA-IA-A83V-11A-11D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f9166f6-9ec6-4026-b8b0-23be6e2c7cdd	d632f44e-8673-43b1-9b56-519cdbbd3008	g.chr11:34118208A>T	ENST00000341394.4	+	16	2077	c.1888A>T	c.(1888-1890)Aat>Tat	p.N630Y	CAPRIN1_ENST00000530820.1_Missense_Mutation_p.N630Y|CAPRIN1_ENST00000533657.1_3'UTR|CAPRIN1_ENST00000532820.1_Missense_Mutation_p.N630Y|CAPRIN1_ENST00000389645.3_Missense_Mutation_p.N630Y|CAPRIN1_ENST00000529307.1_Missense_Mutation_p.N549Y	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	630					negative regulation of translation (GO:0017148)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				GGGCCCTGCCAATGGATTCAG	0.403																																																0													53	60	58					11																	34118208		2202	4298	6500	SO:0001583	missense	4076			BC001731	CCDS31453.1, CCDS31454.1	11p13	2010-08-03	2007-03-27	2007-03-27	ENSG00000135387	ENSG00000135387			6743	protein-coding gene	gene with protein product	"cytoplasmic activation/proliferation-associated protein-1"	601178	"membrane component, chromosome 11, surface marker 1", "GPI-anchored membrane protein 1"	M11S1, GPIAP1		7657653, 16177067, 17210633, 14764709, 15471883	Standard	NM_005898		Approved	caprin-1, RNG105	uc001mvh.1	Q14444	OTTHUMG00000166248	ENST00000341394.4:c.1888A>T	chr11.hg19:g.34118208A>T	ENSP00000340329:p.Asn630Tyr		A6NMY7|D3DR06|Q15074|Q6IMN4|Q6IMN7|Q9BV09	Missense_Mutation	SNP	ENST00000341394.4	hg19	CCDS31453.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.669325	0.88348	.	.	ENSG00000135387	ENST00000341394;ENST00000389645;ENST00000532820;ENST00000530820;ENST00000529307	T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38	5.91	5.91	0.95273	.	0.041083	0.85682	D	0.000000	T	0.57169	0.2035	M	0.68317	2.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.51934	-0.8642	10	0.18276	T	0.48	-8.4317	16.3453	0.83126	1.0:0.0:0.0:0.0	.	630;630	Q14444;Q14444-2	CAPR1_HUMAN;.	Y	630;630;630;630;549	ENSP00000340329:N630Y;ENSP00000374296:N630Y;ENSP00000434150:N630Y;ENSP00000434204:N630Y;ENSP00000431581:N549Y	ENSP00000340329:N630Y	N	+	1	0	CAPRIN1	34074784	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.919000	0.92770	2.261000	0.74972	0.533000	0.62120	AAT		0.403	CAPRIN1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000388680.2	NM_005898		T	34118208	A	T	34118208	3	4	683	1	0	0	0	0	1	0	0	0	2637	130	5	5	1946	5	CAPRIN1	11	34118208	Missense_Mutation	SNP	A	TCGA-IA-A83V-01A-11D-A34Z-10		34118208	100888308	25	37737											
TM7SF2	7108	hgsc.bcm.edu	37	11	64882832	64882832	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IA-A83V-01A-11D-A34Z-10	TCGA-IA-A83V-11A-11D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f9166f6-9ec6-4026-b8b0-23be6e2c7cdd	d632f44e-8673-43b1-9b56-519cdbbd3008	g.chr11:64882832delT	ENST00000279263.7	+	8	1101	c.939delT	c.(937-939)actfs	p.T313fs	TM7SF2_ENST00000540748.1_Frame_Shift_Del_p.T197fs|TM7SF2_ENST00000345348.5_Intron|AP003068.12_ENST00000527789.1_RNA	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	313					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	delta14-sterol reductase activity (GO:0050613)			lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						AGAAAAACACTTTCCGAAAGA	0.567																																																0													128	129	129					11																	64882832		1910	4124	6034	SO:0001589	frameshift_variant	7108			BC012857	CCDS41669.1, CCDS60846.1	11q13.1	2013-05-23			ENSG00000149809	ENSG00000149809	1.3.1.70		11863	protein-coding gene	gene with protein product	"delta(14)-sterol reductase"	603414				9615229, 9286704	Standard	NM_003273		Approved	ANG1, DHCR14A, NET47	uc001oct.4	O76062	OTTHUMG00000165603	ENST00000279263.7:c.939delT	chr11.hg19:g.64882832delT	ENSP00000279263:p.Thr313fs		A8K4H0|O95982|Q8IY06|Q96E64|Q96GZ1	Frame_Shift_Del	DEL	ENST00000279263.7	hg19	CCDS41669.1																																																																																				0.567	TM7SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385234.1	NM_003273		-	64882832	T	-	64882832	7	5	683	1	0	1	0	1	0	0	0	0	15979	1596	56	0	969	0	TM7SF2	11	64882832	Frame_Shift_Del	DEL	T	TCGA-IA-A83V-01A-11D-A34Z-10	30764624	64882832	70123684	26	37738											
KRTAP5-11	440051	hgsc.bcm.edu	37	11	71293623	71293623	+	Silent	SNP	G	G	A			TCGA-IA-A83V-01A-11D-A34Z-10	TCGA-IA-A83V-11A-11D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f9166f6-9ec6-4026-b8b0-23be6e2c7cdd	d632f44e-8673-43b1-9b56-519cdbbd3008	g.chr11:71293623G>A	ENST00000398530.1	-	1	298	c.261C>T	c.(259-261)tgC>tgT	p.C87C	KRTAP5-11_ENST00000526239.1_Intron|AP000867.1_ENST00000343767.3_Intron	NM_001005405.2	NP_001005405.1	Q6L8G4	KR511_HUMAN	keratin associated protein 5-11	87	6 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						agGGCTTACAGCAGTTGGACT	0.627																																																0													86	111	102					11																	71293623		2200	4293	6493	SO:0001819	synonymous_variant	440051			AB126080	CCDS41685.1	11q13.4	2008-11-06			ENSG00000204571	ENSG00000204571		"Keratin associated proteins"	23606	protein-coding gene	gene with protein product						15144888	Standard	NM_001005405		Approved	KRTAP5.11, KRTAP5-6	uc001oqu.3	Q6L8G4	OTTHUMG00000057586	ENST00000398530.1:c.261C>T	chr11.hg19:g.71293623G>A				Silent	SNP	ENST00000398530.1	hg19	CCDS41685.1																																																																																				0.627	KRTAP5-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127969.1	NM_001005405		A	71293623	G	A	71293623	2	1	683	1	0	0	0	0	0	0	0	1	8562	963	34	2		2	KRTAP5-11	11	71293623	Silent	SNP	G	TCGA-IA-A83V-01A-11D-A34Z-10	6410791	71293623	63712893	27	37739											
RBP5	83758	hgsc.bcm.edu	37	12	7276771	7276771	+	Splice_Site	SNP	C	C	A			TCGA-IA-A83V-01A-11D-A34Z-10	TCGA-IA-A83V-11A-11D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f9166f6-9ec6-4026-b8b0-23be6e2c7cdd	d632f44e-8673-43b1-9b56-519cdbbd3008	g.chr12:7276771C>A	ENST00000266560.3	-	4	521		c.e4-1		C1RL-AS1_ENST00000535078.1_RNA|C1RL-AS1_ENST00000545775.1_RNA|C1RL-AS1_ENST00000541775.1_RNA	NM_031491.2	NP_113679.1	P29762	RABP1_HUMAN	retinol binding protein 5, cellular						multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)	cytosol (GO:0005829)	retinal binding (GO:0016918)|retinoic acid binding (GO:0001972)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|transporter activity (GO:0005215)			autonomic_ganglia(1)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)	10					Alitretinoin(DB00523)|Tretinoin(DB00755)	CAGTCAGTTCCTGGGGAGAGA	0.577																																																0													64	55	58					12																	7276771		2203	4300	6503	SO:0001630	splice_region_variant	83758			AY007436	CCDS8574.1	12p13.31	2013-03-01	2001-11-28		ENSG00000139194	ENSG00000139194		"Fatty acid binding protein family"	15847	protein-coding gene	gene with protein product		611866	"retinol-binding protein 5, cellular"			11274389	Standard	NM_031491		Approved	CRBPIII	uc001qsq.3	P82980	OTTHUMG00000168165	ENST00000266560.3:c.355-1G>T	chr12.hg19:g.7276771C>A			Q6IAY7|Q8WTV5	Splice_Site	SNP	ENST00000266560.3	hg19	CCDS8574.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.115989	0.56505	.	.	ENSG00000139194	ENST00000266560	.	.	.	3.67	3.67	0.42095	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2006	0.59765	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RBP5	7168045	1.000000	0.71417	1.000000	0.80357	0.744000	0.42396	4.017000	0.57167	2.347000	0.79759	0.462000	0.41574	.		0.577	RBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398554.1	NM_031491	Intron	A	7276771	C	A	7276771	5	1	683	1	0	0	0	0	0	0	1	0	13165	695	24	4	57	4	RBP5	12	7276771	Splice_Site	SNP	C	TCGA-IA-A83V-01A-11D-A34Z-10		7276771	126575124	28	37740											
GEFT	115557	hgsc.bcm.edu	37	12	58010621	58010621	+	Missense_Mutation	SNP	C	C	G			TCGA-IA-A83V-01A-11D-A34Z-10	TCGA-IA-A83V-11A-11D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f9166f6-9ec6-4026-b8b0-23be6e2c7cdd	d632f44e-8673-43b1-9b56-519cdbbd3008	g.chr12:58010621C>G	ENST00000286494.4	+	15	2147	c.1687C>G	c.(1687-1689)Cca>Gca	p.P563A	AC025165.8_ENST00000444467.1_RNA|AC025165.8_ENST00000610219.1_RNA|ARHGEF25_ENST00000477314.1_3'UTR|AC025165.8_ENST00000356672.3_RNA|ARHGEF25_ENST00000333972.7_Missense_Mutation_p.P602A|AC025165.8_ENST00000593846.1_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						CTCTCCAACTCCAAAAACCCC	0.527																																																0													104	117	112					12																	58010621		2203	4300	6503	SO:0001583	missense	115557				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.1687C>G	chr12.hg19:g.58010621C>G	ENSP00000286494:p.Pro563Ala		A6NJH5|A9CQZ6|F8W7Z4|Q8WV84|Q96E63	Missense_Mutation	SNP	ENST00000286494.4	hg19	CCDS8947.1	.	.	.	.	.	.	.	.	.	.	c	7.924	0.739308	0.15642	.	.	ENSG00000240771	ENST00000333972;ENST00000286494	T;T	0.38560	1.13;1.17	4.83	2.96	0.34315	.	0.955133	0.08554	N	0.928584	T	0.30070	0.0753	L	0.27053	0.805	0.09310	N	1	B;B	0.12630	0.006;0.003	B;B	0.15870	0.014;0.004	T	0.23368	-1.0190	10	0.34782	T	0.22	.	7.799	0.29164	0.0:0.7392:0.1704:0.0904	.	602;563	F8W7Z4;Q86VW2	.;ARHGP_HUMAN	A	602;563	ENSP00000335560:P602A;ENSP00000286494:P563A	ENSP00000286494:P563A	P	+	1	0	ARHGEF25	56296888	0.002000	0.14202	0.001000	0.08648	0.647000	0.38526	1.605000	0.36815	0.724000	0.32296	0.563000	0.77884	CCA		0.527	ARHGEF25-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000326561.1	NM_133483		G	58010621	C	G	58010621	3	3	683	1	0	0	0	0	1	0	0	0	6330	855	30	4	1967	4	GEFT	12	58010621	Missense_Mutation	SNP	C	TCGA-IA-A83V-01A-11D-A34Z-10	50733850	58010621	75841274	29	37741											
FLT1	2321	hgsc.bcm.edu	37	13	28942739	28942739	+	Intron	SNP	T	T	C	rs371573097|rs558386334	byFrequency	TCGA-IA-A83V-01A-11D-A34Z-10	TCGA-IA-A83V-11A-11D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f9166f6-9ec6-4026-b8b0-23be6e2c7cdd	d632f44e-8673-43b1-9b56-519cdbbd3008	g.chr13:28942739T>C	ENST00000282397.4	-	15	2368				FLT1_ENST00000541932.1_Silent_p.S726S	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1						blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	atgatgacgatgatgatgatg	0.343																																																0													289	303	299					13																	28942739		692	1591	2283	SO:0001627	intron_variant	2321			AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3763	protein-coding gene	gene with protein product	"vascular endothelial growth factor receptor 1", "vascular permeability factor receptor"	165070	"fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.2117-10917A>G	chr13.hg19:g.28942739T>C			A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Silent	SNP	ENST00000282397.4	hg19	CCDS9330.1																																																																																				0.343	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			C	28942739	T	C	28942739	1	2	683	0	1	0	0	0	0	0	0	0	5943	1451	51	3		3	FLT1	13	28942739	Intron	SNP	T	TCGA-IA-A83V-01A-11D-A34Z-10		28942739	86227139	30	37742											
MYH7	4625	hgsc.bcm.edu	37	14	23888454	23888454	+	Missense_Mutation	SNP	T	T	C			TCGA-IA-A83V-01A-11D-A34Z-10	TCGA-IA-A83V-11A-11D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f9166f6-9ec6-4026-b8b0-23be6e2c7cdd	d632f44e-8673-43b1-9b56-519cdbbd3008	g.chr14:23888454T>C	ENST00000355349.3	-	29	4066	c.3904A>G	c.(3904-3906)Acc>Gcc	p.T1302A	MIR208B_ENST00000401172.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1302					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)		TTGCCTCGGGTCAGCTGGGAG	0.607																																																0													96	83	88					14																	23888454		2203	4300	6503	SO:0001583	missense	4625			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.3904A>G	chr14.hg19:g.23888454T>C	ENSP00000347507:p.Thr1302Ala		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	hg19	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	T	19.72	3.881046	0.72294	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	T	0.78364	-1.17	4.99	4.99	0.66335	Myosin tail (1);	.	.	.	.	D	0.83746	0.5321	M	0.75264	2.295	0.51233	D	0.999918	B	0.29378	0.243	P	0.46685	0.524	D	0.84607	0.0676	9	0.72032	D	0.01	.	11.2964	0.49280	0.136:0.0:0.0:0.864	.	1302	P12883	MYH7_HUMAN	A	1302;1307	ENSP00000347507:T1302A	ENSP00000347507:T1302A	T	-	1	0	MYH7	22958294	0.946000	0.32159	1.000000	0.80357	0.997000	0.91878	1.564000	0.36375	2.104000	0.64026	0.533000	0.62120	ACC		0.607	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		C	23888454	T	C	23888454	3	2	683	1	0	0	0	0	1	0	0	0	10041	1667	58	3	1951	3	MYH7	14	23888454	Missense_Mutation	SNP	T	TCGA-IA-A83V-01A-11D-A34Z-10		23888454	83461086	31	37743											
PSEN1	5663	hgsc.bcm.edu	37	14	73678584	73678584	+	Missense_Mutation	SNP	C	C	G	rs376433615		TCGA-IA-A83V-01A-11D-A34Z-10	TCGA-IA-A83V-11A-11D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f9166f6-9ec6-4026-b8b0-23be6e2c7cdd	d632f44e-8673-43b1-9b56-519cdbbd3008	g.chr14:73678584C>G	ENST00000324501.5	+	10	1335	c.1063C>G	c.(1063-1065)Cct>Gct	p.P355A	PSEN1_ENST00000357710.4_Missense_Mutation_p.P351A|PSEN1_ENST00000394164.1_Missense_Mutation_p.P351A|PSEN1_ENST00000261970.3_Intron|PSEN1_ENST00000406768.1_Missense_Mutation_p.P263A|PSEN1_ENST00000344094.3_3'UTR|PSEN1_ENST00000557511.1_Intron	NM_000021.3|NM_007318.2	NP_000012.1|NP_015557.2	P49768	PSN1_HUMAN	presenilin 1	355	Required for interaction with CTNNB1.				activation of MAPKK activity (GO:0000186)|amyloid precursor protein catabolic process (GO:0042987)|anagen (GO:0042640)|autophagic vacuole assembly (GO:0000045)|beta-amyloid formation (GO:0034205)|beta-amyloid metabolic process (GO:0050435)|blood vessel development (GO:0001568)|brain morphogenesis (GO:0048854)|Cajal-Retzius cell differentiation (GO:0021870)|calcium ion transmembrane transport (GO:0070588)|canonical Wnt signaling pathway (GO:0060070)|cell fate specification (GO:0001708)|cellular response to DNA damage stimulus (GO:0006974)|cerebral cortex cell migration (GO:0021795)|choline transport (GO:0015871)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic limb morphogenesis (GO:0030326)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hematopoietic progenitor cell differentiation (GO:0002244)|intracellular signal transduction (GO:0035556)|L-glutamate transport (GO:0015813)|membrane protein ectodomain proteolysis (GO:0006509)|memory (GO:0007613)|mitochondrial transport (GO:0006839)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of axonogenesis (GO:0050771)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of coagulation (GO:0050820)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of receptor recycling (GO:0001921)|post-embryonic development (GO:0009791)|protein glycosylation (GO:0006486)|protein processing (GO:0016485)|protein transport (GO:0015031)|regulation of phosphorylation (GO:0042325)|regulation of protein binding (GO:0043393)|regulation of resting membrane potential (GO:0060075)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)|skeletal system morphogenesis (GO:0048705)|skin morphogenesis (GO:0043589)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|somitogenesis (GO:0001756)|synaptic vesicle targeting (GO:0016080)|T cell activation involved in immune response (GO:0002286)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cell cortex (GO:0005938)|cell surface (GO:0009986)|centrosome (GO:0005813)|ciliary rootlet (GO:0035253)|cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|endoplasmic reticulum (GO:0005783)|gamma-secretase complex (GO:0070765)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|kinetochore (GO:0000776)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)|perinuclear region of cytoplasm (GO:0048471)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	aspartic-type endopeptidase activity (GO:0004190)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|calcium channel activity (GO:0005262)|endopeptidase activity (GO:0004175)|PDZ domain binding (GO:0030165)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		TCGCTCTACACCTGAGTCACG	0.512																																																0													125	106	113					14																	73678584		2203	4300	6503	SO:0001583	missense	5663			AJ008005	CCDS9812.1, CCDS9813.1	14q24.3	2014-09-17	2008-07-28		ENSG00000080815	ENSG00000080815			9508	protein-coding gene	gene with protein product		104311	"Alzheimer disease 3"	AD3		1411576	Standard	NM_007318		Approved	FAD, S182, PS1	uc001xnr.3	P49768	OTTHUMG00000141279	ENST00000324501.5:c.1063C>G	chr14.hg19:g.73678584C>G	ENSP00000326366:p.Pro355Ala		B2R6D3|O95465|Q14762|Q15719|Q15720|Q96P33|Q9UIF0	Missense_Mutation	SNP	ENST00000324501.5	hg19	CCDS9812.1	.	.	.	.	.	.	.	.	.	.	C	2.251	-0.371435	0.05034	.	.	ENSG00000080815	ENST00000324501;ENST00000357710;ENST00000394164;ENST00000406768	D;D;D;D	0.99507	-6.04;-6.04;-6.04;-6.04	6.07	-4.33	0.03677	.	0.587506	0.19956	N	0.102313	D	0.95227	0.8452	N	0.17082	0.46	0.09310	N	0.999998	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	D	0.93070	0.6482	10	0.09338	T	0.73	0.404	4.5188	0.11949	0.1006:0.3795:0.3539:0.166	.	351;355	P49768-2;P49768	.;PSN1_HUMAN	A	355;351;351;263	ENSP00000326366:P355A;ENSP00000350342:P351A;ENSP00000377719:P351A;ENSP00000385948:P263A	ENSP00000326366:P355A	P	+	1	0	PSEN1	72748337	0.000000	0.05858	0.000000	0.03702	0.098000	0.18820	-0.084000	0.11268	-1.337000	0.02236	-0.150000	0.13652	CCT		0.512	PSEN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280500.2			G	73678584	C	G	73678584	3	3	683	1	0	0	0	0	1	0	0	0	12655	507	18	4	1093	4	PSEN1	14	73678584	Missense_Mutation	SNP	C	TCGA-IA-A83V-01A-11D-A34Z-10	49790130	73678584	33670956	32	37744											
ASB2	51676	hgsc.bcm.edu	37	14	94413717	94413717	+	Missense_Mutation	SNP	C	C	T			TCGA-IA-A83V-01A-11D-A34Z-10	TCGA-IA-A83V-11A-11D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f9166f6-9ec6-4026-b8b0-23be6e2c7cdd	d632f44e-8673-43b1-9b56-519cdbbd3008	g.chr14:94413717C>T	ENST00000315988.4	-	5	1374	c.886G>A	c.(886-888)Gcc>Acc	p.A296T	MIR4506_ENST00000584693.1_RNA|ASB2_ENST00000555019.1_Missense_Mutation_p.A344T|ASB2_ENST00000556337.1_Intron	NM_016150.4	NP_057234.2	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	296					intracellular signal transduction (GO:0035556)|myoblast differentiation (GO:0045445)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)	Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		TTCTTGGAGGCGATGTGCAGC	0.632																																																0													158	129	139					14																	94413717		2203	4300	6503	SO:0001583	missense	51676			AF159164	CCDS9915.1, CCDS55940.1	14q31-q32	2013-01-10	2011-01-25					"Ankyrin repeat domain containing"	16012	protein-coding gene	gene with protein product		605759	"ankyrin repeat and SOCS box-containing 2"				Standard	NM_016150		Approved	ASB-2	uc001ycd.3	Q96Q27		ENST00000315988.4:c.886G>A	chr14.hg19:g.94413717C>T	ENSP00000320675:p.Ala296Thr		B2RDP9|B4E166|Q9NSU5|Q9Y567	Missense_Mutation	SNP	ENST00000315988.4	hg19	CCDS9915.1	.	.	.	.	.	.	.	.	.	.	C	35	5.593233	0.96602	.	.	ENSG00000100628	ENST00000555019;ENST00000434324;ENST00000315988;ENST00000543546;ENST00000555507	T;D;T	0.86956	-1.46;-2.19;-0.31	5.19	5.19	0.71726	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.95906	0.8667	H	0.96175	3.78	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.97286	0.9921	10	0.87932	D	0	-25.2568	18.7174	0.91680	0.0:1.0:0.0:0.0	.	312;344;296	B3KPZ6;B4E166;Q96Q27	.;.;ASB2_HUMAN	T	344;312;296;242;242	ENSP00000451575:A344T;ENSP00000320675:A296T;ENSP00000450940:A242T	ENSP00000320675:A296T	A	-	1	0	ASB2	93483470	1.000000	0.71417	0.948000	0.38648	0.953000	0.61014	7.818000	0.86416	2.417000	0.82017	0.462000	0.41574	GCC		0.632	ASB2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412845.1			T	94413717	C	T	94413717	3	4	683	1	0	0	0	0	1	0	0	0	1023	768	27	1	893	1	ASB2	14	94413717	Missense_Mutation	SNP	C	TCGA-IA-A83V-01A-11D-A34Z-10	20735133	94413717	12935823	33	37745											
DNAJC17	55192	hgsc.bcm.edu	37	15	41066037	41066037	+	Splice_Site	SNP	T	T	A			TCGA-IA-A83V-01A-11D-A34Z-10	TCGA-IA-A83V-11A-11D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f9166f6-9ec6-4026-b8b0-23be6e2c7cdd	d632f44e-8673-43b1-9b56-519cdbbd3008	g.chr15:41066037T>A	ENST00000220496.4	-	10	712		c.e10-2			NM_018163.2	NP_060633.1	Q9NVM6	DJC17_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 17						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)		nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|skin(1)	6		all_cancers(109;4.16e-14)|all_epithelial(112;9.68e-12)|Lung NSC(122;3.19e-09)|all_lung(180;6.45e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		AGCCAGCTCCTGCCAAACACA	0.562																																																0													32	28	29					15																	41066037		2203	4300	6503	SO:0001630	splice_region_variant	55192			AK001496	CCDS10065.1	15q15.1	2014-02-12			ENSG00000104129	ENSG00000104129		"Heat shock proteins / DNAJ (HSP40)", "RNA binding motif (RRM) containing"	25556	protein-coding gene	gene with protein product						12477932	Standard	NM_018163		Approved	FLJ10634	uc001zms.2	Q9NVM6	OTTHUMG00000130065	ENST00000220496.4:c.682-2A>T	chr15.hg19:g.41066037T>A				Splice_Site	SNP	ENST00000220496.4	hg19	CCDS10065.1	.	.	.	.	.	.	.	.	.	.	T	19.72	3.880172	0.72294	.	.	ENSG00000104129	ENST00000220496	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8314	0.70151	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	DNAJC17	38853329	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	6.416000	0.73332	2.181000	0.69327	0.459000	0.35465	.		0.562	DNAJC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252356.2	NM_018163	Intron	A	41066037	T	A	41066037	5	1	683	1	0	0	0	0	0	0	1	0	4638	1594	55	5	242	5	DNAJC17	15	41066037	Splice_Site	SNP	T	TCGA-IA-A83V-01A-11D-A34Z-10		41066037	61465355	34	37746											
IMP3	55272	hgsc.bcm.edu	37	15	75931982	75931982	+	Silent	SNP	C	C	T			TCGA-IA-A83V-01A-11D-A34Z-10	TCGA-IA-A83V-11A-11D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f9166f6-9ec6-4026-b8b0-23be6e2c7cdd	d632f44e-8673-43b1-9b56-519cdbbd3008	g.chr15:75931982C>T	ENST00000314852.2	-	2	1471	c.528G>A	c.(526-528)gaG>gaA	p.E176E	IMP3_ENST00000565349.1_5'Flank|CTD-2026K11.2_ENST00000564683.1_RNA|IMP3_ENST00000403490.1_Silent_p.E176E			Q8TCT8	SPP2A_HUMAN	IMP3, U3 small nucleolar ribonucleoprotein	0					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)			large_intestine(1)	1						AGTCATCGCGCTCCTCATTGT	0.537																																																0													95	82	86					15																	75931982		2197	4294	6491	SO:0001819	synonymous_variant	55272			AB051628	CCDS10282.1	15q24	2014-02-19	2014-02-19	2005-07-14	ENSG00000177971	ENSG00000177971			14497	protein-coding gene	gene with protein product		612980	"mitochondrial ribosomal protein S4", "chromosome 15 open reading frame 12", "IMP3, U3 small nucleolar ribonucleoprotein, homolog (yeast)"	MRPS4, C15orf12		11543634, 12655004	Standard	NM_018285		Approved	FLJ10968, BRMS2	uc010bkl.2	Q9NV31	OTTHUMG00000142840	ENST00000314852.2:c.528G>A	chr15.hg19:g.75931982C>T			B2RDS0|Q8TAW1|Q96SZ8	Silent	SNP	ENST00000314852.2	hg19	CCDS10282.1																																																																																				0.537	IMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286476.1	NM_018285		T	75931982	C	T	75931982	2	4	683	1	0	0	0	0	0	0	0	1	7721	796	28	2		2	IMP3	15	75931982	Silent	SNP	C	TCGA-IA-A83V-01A-11D-A34Z-10	34865945	75931982	26599410	35	37747											
WDR24	84219	hgsc.bcm.edu	37	16	739631	739631	+	Missense_Mutation	SNP	T	T	C			TCGA-IA-A83V-01A-11D-A34Z-10	TCGA-IA-A83V-11A-11D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f9166f6-9ec6-4026-b8b0-23be6e2c7cdd	d632f44e-8673-43b1-9b56-519cdbbd3008	g.chr16:739631T>C	ENST00000248142.6	-	3	195	c.196A>G	c.(196-198)Atg>Gtg	p.M66V	WDR24_ENST00000293883.4_Missense_Mutation_p.M4V|LA16c-313D11.12_ENST00000566927.1_RNA			Q96S15	WDR24_HUMAN	WD repeat domain 24	66										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				ACACGGGACATCTTCTCCATG	0.632																																																0													30	25	26					16																	739631		2199	4299	6498	SO:0001583	missense	84219			AL136863	CCDS10420.1	16p13.3	2013-01-09			ENSG00000127580	ENSG00000127580		"WD repeat domain containing"	20852	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 21"	C16orf21		11230166	Standard	NM_032259		Approved	DKFZp434F054, JFP7	uc002ciz.1	Q96S15	OTTHUMG00000090421	ENST00000248142.6:c.196A>G	chr16.hg19:g.739631T>C	ENSP00000248142:p.Met66Val		A2IDB8|D3DU59|Q96GC7|Q9H0B7	Missense_Mutation	SNP	ENST00000248142.6	hg19		.	.	.	.	.	.	.	.	.	.	t	11.89	1.772343	0.31411	.	.	ENSG00000127580	ENST00000248142;ENST00000293883	T;T	0.76578	-1.03;0.32	4.09	4.09	0.47781	.	0.000000	0.85682	D	0.000000	T	0.75459	0.3852	L	0.44542	1.39	0.40630	D	0.98184	B	0.34399	0.452	P	0.44623	0.455	T	0.72934	-0.4141	10	0.27785	T	0.31	1.7223	12.0317	0.53401	0.0:0.0:0.0:1.0	.	4	Q96S15-2	.	V	66;4	ENSP00000248142:M66V;ENSP00000293883:M4V	ENSP00000248142:M66V	M	-	1	0	WDR24	679632	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.157000	0.77461	1.715000	0.51383	0.459000	0.35465	ATG		0.632	WDR24-201	KNOWN	basic	protein_coding	protein_coding		NM_032259		C	739631	T	C	739631	3	2	683	1	0	0	0	0	1	0	0	0	17286	1435	50	3	2398	3	WDR24	16	739631	Missense_Mutation	SNP	T	TCGA-IA-A83V-01A-11D-A34Z-10		739631	89615122	36	37748											
C16orf62	57020	hgsc.bcm.edu	37	16	19584527	19584527	+	Missense_Mutation	SNP	C	C	G			TCGA-IA-A83V-01A-11D-A34Z-10	TCGA-IA-A83V-11A-11D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f9166f6-9ec6-4026-b8b0-23be6e2c7cdd	d632f44e-8673-43b1-9b56-519cdbbd3008	g.chr16:19584527C>G	ENST00000251143.5	+	4	384	c.372C>G	c.(370-372)atC>atG	p.I124M	C16orf62_ENST00000538853.1_Missense_Mutation_p.I213M|C16orf62_ENST00000542263.1_Missense_Mutation_p.I213M|C16orf62_ENST00000417362.2_Missense_Mutation_p.I124M|C16orf62_ENST00000438132.3_Missense_Mutation_p.I213M			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	124						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						GGGGAGAAATCCTTGCCCGGT	0.448																																																0													136	135	135					16																	19584527		2197	4300	6497	SO:0001583	missense	57020				CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.372C>G	chr16.hg19:g.19584527C>G	ENSP00000251143:p.Ile124Met		A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Missense_Mutation	SNP	ENST00000251143.5	hg19		.	.	.	.	.	.	.	.	.	.	C	25.5	4.639579	0.87760	.	.	ENSG00000103544	ENST00000438132;ENST00000538853;ENST00000542263;ENST00000251143;ENST00000417362	T;T;T;T;T	0.64803	1.56;-0.12;1.56;1.56;1.56	5.32	4.36	0.52297	.	0.000000	0.85682	D	0.000000	T	0.79936	0.4532	M	0.86740	2.835	0.80722	D	1	D;D;D	0.89917	0.997;0.999;1.0	D;D;D	0.91635	0.994;0.996;0.999	T	0.81512	-0.0899	10	0.48119	T	0.1	-26.3365	12.4816	0.55847	0.0:0.9197:0.0:0.0803	.	213;124;213	F5H7K1;Q7Z3J2;E7EWW0	.;CP062_HUMAN;.	M	213;213;213;124;124	ENSP00000400815:I213M;ENSP00000444363:I213M;ENSP00000442468:I213M;ENSP00000251143:I124M;ENSP00000395973:I124M	ENSP00000251143:I124M	I	+	3	3	C16orf62	19492028	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.813000	0.55636	2.488000	0.83962	0.557000	0.71058	ATC		0.448	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_020314		G	19584527	C	G	19584527	3	3	683	1	0	0	0	0	1	0	0	0	1827	845	30	4	386	4	C16orf62	16	19584527	Missense_Mutation	SNP	C	TCGA-IA-A83V-01A-11D-A34Z-10	18844896	19584527	70770226	37	37749											
LONP2	83752	hgsc.bcm.edu	37	16	48296782	48296782	+	Splice_Site	SNP	T	T	C			TCGA-IA-A83V-01A-11D-A34Z-10	TCGA-IA-A83V-11A-11D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f9166f6-9ec6-4026-b8b0-23be6e2c7cdd	d632f44e-8673-43b1-9b56-519cdbbd3008	g.chr16:48296782T>C	ENST00000285737.4	+	6	1074	c.981T>C	c.(979-981)acT>acC	p.T327T	LONP2_ENST00000535754.1_Splice_Site_p.T283T	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						AAAGTACAACTGGTAAGCCAA	0.358																																																0													62	61	61					16																	48296782		2200	4299	6499	SO:0001630	splice_region_variant	83752			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.982+1T>C	chr16.hg19:g.48296782T>C				Silent	SNP	ENST00000285737.4	hg19	CCDS10734.1																																																																																				0.358	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256839.2	NM_031490	Silent	C	48296782	T	C	48296782	5	2	683	1	0	0	0	0	0	0	1	0	8895	1594	55	3	1003	3	LONP2	16	48296782	Splice_Site	SNP	T	TCGA-IA-A83V-01A-11D-A34Z-10	28712255	48296782	42057971	38	37750											
FA2H	79152	hgsc.bcm.edu	37	16	74808459	74808459	+	Silent	SNP	C	C	A			TCGA-IA-A83V-01A-11D-A34Z-10	TCGA-IA-A83V-11A-11D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f9166f6-9ec6-4026-b8b0-23be6e2c7cdd	d632f44e-8673-43b1-9b56-519cdbbd3008	g.chr16:74808459C>A	ENST00000219368.3	-	1	264	c.195G>T	c.(193-195)ccG>ccT	p.P65P	FA2H_ENST00000544337.1_5'UTR	NM_024306.4	NP_077282.3	Q7L5A8	FA2H_HUMAN	fatty acid 2-hydroxylase	65	Cytochrome b5 heme-binding. {ECO:0000255|PROSITE-ProRule:PRU00279}.				cell death (GO:0008219)|central nervous system myelin maintenance (GO:0032286)|fatty acid biosynthetic process (GO:0006633)|lipid modification (GO:0030258)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of cell proliferation (GO:0042127)|regulation of hair cycle (GO:0042634)|sebaceous gland cell differentiation (GO:0001949)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	fatty acid alpha-hydroxylase activity (GO:0080132)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						GCCTGTGCGGCGGCCCGTCCA	0.751																																																0													4	4	4					16																	74808459		1728	3475	5203	SO:0001819	synonymous_variant	79152			BC002679	CCDS10911.1	16q23	2013-03-04	2003-10-29	2003-10-31	ENSG00000103089	ENSG00000103089		"Fatty acid hydroxylase domain containing"	21197	protein-coding gene	gene with protein product	"fatty acid hydroxylase"	611026	"fatty acid hydroxylase domain containing 1", "spastic paraplegia 35 (autosomal recessive)"	FAXDC1, SPG35		20104589	Standard	NM_024306		Approved	FAAH, FLJ25287	uc002fde.2	Q7L5A8	OTTHUMG00000137603	ENST00000219368.3:c.195G>T	chr16.hg19:g.74808459C>A			B7Z8T6|O75213|Q96DK1|Q9H1A5	Silent	SNP	ENST00000219368.3	hg19	CCDS10911.1																																																																																				0.751	FA2H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269015.2	NM_024306		A	74808459	C	A	74808459	2	1	683	1	0	0	0	0	0	0	0	1	5354	755	27	4		4	FA2H	16	74808459	Silent	SNP	C	TCGA-IA-A83V-01A-11D-A34Z-10	26511677	74808459	15546294	39	37751											
THRA	7067	hgsc.bcm.edu	37	17	38249559	38249559	+	Missense_Mutation	SNP	A	A	G			TCGA-IA-A83V-01A-11D-A34Z-10	TCGA-IA-A83V-11A-11D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f9166f6-9ec6-4026-b8b0-23be6e2c7cdd	d632f44e-8673-43b1-9b56-519cdbbd3008	g.chr17:38249559A>G	ENST00000264637.4	+	10	1977	c.1397A>G	c.(1396-1398)gAg>gGg	p.E466G	NR1D1_ENST00000246672.3_Intron|THRA_ENST00000584985.1_Missense_Mutation_p.E427G|THRA_ENST00000394121.4_Missense_Mutation_p.E466G	NM_003250.5	NP_003241.2	P10827	THA_HUMAN	thyroid hormone receptor, alpha	466					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)			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)	GACAGCAGTGAGGCGGACTCC	0.662																																																0													28	31	30					17																	38249559		2203	4300	6503	SO:0001583	missense	7067			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.1397A>G	chr17.hg19:g.38249559A>G	ENSP00000264637:p.Glu466Gly		A8K3B5|P21205|Q8N6A1|Q96H73	Missense_Mutation	SNP	ENST00000264637.4	hg19	CCDS11360.1	.	.	.	.	.	.	.	.	.	.	A	15.84	2.952359	0.53293	.	.	ENSG00000126351	ENST00000394121;ENST00000264637	D;D	0.94280	-3.39;-3.39	4.73	3.66	0.41972	.	0.355296	0.21196	N	0.078543	D	0.84817	0.5556	N	0.14661	0.345	0.80722	D	1	P;P	0.37330	0.59;0.455	B;B	0.35607	0.206;0.102	D	0.84397	0.0558	10	0.51188	T	0.08	.	8.2837	0.31915	0.9049:0.0:0.0951:0.0	.	427;466	P10827-3;P10827	.;THA_HUMAN	G	466	ENSP00000377679:E466G;ENSP00000264637:E466G	ENSP00000264637:E466G	E	+	2	0	THRA	35503085	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.912000	0.39946	2.117000	0.64856	0.460000	0.39030	GAG		0.662	THRA-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257160.2			G	38249559	A	G	38249559	3	3	683	1	0	0	0	0	1	0	0	0	15878	304	11	3	1554	3	THRA	17	38249559	Missense_Mutation	SNP	A	TCGA-IA-A83V-01A-11D-A34Z-10		38249559	42945651	40	37752											
KIAA1267	284058	hgsc.bcm.edu	37	17	44116537	44116537	+	Missense_Mutation	SNP	G	G	A			TCGA-IA-A83V-01A-11D-A34Z-10	TCGA-IA-A83V-11A-11D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f9166f6-9ec6-4026-b8b0-23be6e2c7cdd	d632f44e-8673-43b1-9b56-519cdbbd3008	g.chr17:44116537G>A	ENST00000262419.6	-	9	2718	c.2248C>T	c.(2248-2250)Cac>Tac	p.H750Y	KANSL1_ENST00000575318.1_Intron|KANSL1_ENST00000574590.1_Missense_Mutation_p.H750Y|KANSL1_ENST00000572904.1_Missense_Mutation_p.H750Y|KANSL1_ENST00000393476.3_Intron|KANSL1_ENST00000432791.1_Missense_Mutation_p.H750Y	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	750					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)											TCGTCTAAGTGCTGCCTGTGG	0.547																																																0													103	94	97					17																	44116537		2203	4300	6503	SO:0001583	missense	284058			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.2248C>T	chr17.hg19:g.44116537G>A	ENSP00000262419:p.His750Tyr		A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Missense_Mutation	SNP	ENST00000262419.6	hg19	CCDS11503.1	.	.	.	.	.	.	.	.	.	.	G	3.887	-0.024870	0.07589	.	.	ENSG00000120071	ENST00000262419;ENST00000432791	T;T	0.11821	2.74;2.74	5.8	4.83	0.62350	.	0.526646	0.20277	N	0.095526	T	0.05135	0.0137	N	0.08118	0	0.80722	D	1	B;P;P	0.35982	0.255;0.531;0.531	B;B;B	0.28849	0.095;0.065;0.065	T	0.25187	-1.0139	10	0.02654	T	1	-5.0476	11.2703	0.49136	0.0838:0.0:0.9162:0.0	.	81;750;750	Q7Z3B3-2;C9JHY2;Q7Z3B3	.;.;K1267_HUMAN	Y	750	ENSP00000262419:H750Y;ENSP00000387393:H750Y	ENSP00000262419:H750Y	H	-	1	0	KIAA1267	41472384	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.235000	0.51328	2.758000	0.94735	0.561000	0.74099	CAC		0.547	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443		A	44116537	G	A	44116537	3	1	683	1	0	0	0	0	1	0	0	0	8221	1319	46	2	1097	2	KIAA1267	17	44116537	Missense_Mutation	SNP	G	TCGA-IA-A83V-01A-11D-A34Z-10	5866978	44116537	37078673	41	37753											
CBX1	10951	hgsc.bcm.edu	37	17	46154301	46154301	+	Silent	SNP	C	C	T			TCGA-IA-A83V-01A-11D-A34Z-10	TCGA-IA-A83V-11A-11D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f9166f6-9ec6-4026-b8b0-23be6e2c7cdd	d632f44e-8673-43b1-9b56-519cdbbd3008	g.chr17:46154301C>T	ENST00000393408.3	-	2	546	c.66G>A	c.(64-66)gtG>gtA	p.V22V	CBX1_ENST00000225603.4_Silent_p.V22V|CBX1_ENST00000495350.1_Silent_p.V22V	NM_006807.4	NP_006798.1	P83916	CBX1_HUMAN	chromobox homolog 1	22	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				negative regulation of transcription, DNA-templated (GO:0045892)	chromatin (GO:0000785)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|pericentric heterochromatin (GO:0005721)|spindle (GO:0005819)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone methyltransferase binding (GO:1990226)			breast(1)|central_nervous_system(1)|kidney(1)|prostate(1)	4						CTTTTTCCACCACATATTCCT	0.473																																					NSCLC(136;694 2497 38792 39034)											0													314	258	277					17																	46154301		2203	4300	6503	SO:0001819	synonymous_variant	10951			U35451	CCDS11525.1	17q21.32	2010-07-06	2010-06-24		ENSG00000108468	ENSG00000108468			1551	protein-coding gene	gene with protein product	"HP1 beta homolog (Drosophila )"	604511	"chromobox homolog 1 (Drosophila HP1 beta)"			9169582	Standard	NM_001127228		Approved	HP1Hs-beta, M31, MOD1, CBX, HP1-BETA	uc002ind.4	P83916	OTTHUMG00000150417	ENST00000393408.3:c.66G>A	chr17.hg19:g.46154301C>T			P23197	Silent	SNP	ENST00000393408.3	hg19	CCDS11525.1																																																																																				0.473	CBX1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318016.1	NM_006807		T	46154301	C	T	46154301	2	4	683	1	0	0	0	0	0	0	0	1	2719	581	21	2		2	CBX1	17	46154301	Silent	SNP	C	TCGA-IA-A83V-01A-11D-A34Z-10	2037764	46154301	35040909	42	37754											
MRPL38	64978	hgsc.bcm.edu	37	17	73897871	73897871	+	Silent	SNP	G	G	T			TCGA-IA-A83V-01A-11D-A34Z-10	TCGA-IA-A83V-11A-11D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f9166f6-9ec6-4026-b8b0-23be6e2c7cdd	d632f44e-8673-43b1-9b56-519cdbbd3008	g.chr17:73897871G>T	ENST00000309352.3	-	4	1050	c.513C>A	c.(511-513)gtC>gtA	p.V171V	MRPL38_ENST00000409963.3_5'UTR|MRPL38_ENST00000585475.1_5'UTR|RP11-552F3.10_ENST00000587267.1_RNA	NM_032478.3	NP_115867.2	Q96DV4	RM38_HUMAN	mitochondrial ribosomal protein L38	171						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)			CGTGCAGGGGGACTCGGGGCA	0.602																																																0													87	66	73					17																	73897871		2203	4300	6503	SO:0001819	synonymous_variant	64978			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.513C>A	chr17.hg19:g.73897871G>T			B3KN96|Q96Q66|Q9P0B9	Silent	SNP	ENST00000309352.3	hg19	CCDS11733.2																																																																																				0.602	MRPL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328829.1	NM_032478		T	73897871	G	T	73897871	2	4	683	1	0	0	0	0	0	0	0	1	9803	1161	41	4		4	MRPL38	17	73897871	Silent	SNP	G	TCGA-IA-A83V-01A-11D-A34Z-10	27743570	73897871	7297339	43	37755											
MIDN	90007	hgsc.bcm.edu	37	19	1255541	1255541	+	Missense_Mutation	SNP	C	C	T			TCGA-IA-A83V-01A-11D-A34Z-10	TCGA-IA-A83V-11A-11D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f9166f6-9ec6-4026-b8b0-23be6e2c7cdd	d632f44e-8673-43b1-9b56-519cdbbd3008	g.chr19:1255541C>T	ENST00000591446.2	+	6	1386	c.977C>T	c.(976-978)tCg>tTg	p.S326L	MIDN_ENST00000300952.2_Missense_Mutation_p.S326L			Q504T8	MIDN_HUMAN	midnolin	326						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)		ATGCCCCCTTCGCTGGCCCAG	0.716																																																0													30	27	28					19																	1255541		2199	4296	6495	SO:0001583	missense	90007			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.977C>T	chr19.hg19:g.1255541C>T	ENSP00000467679:p.Ser326Leu		Q96BW8	Missense_Mutation	SNP	ENST00000591446.2	hg19	CCDS32864.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.080268	0.55753	.	.	ENSG00000167470	ENST00000300952	.	.	.	3.5	3.5	0.40072	.	0.000000	0.85682	D	0.000000	T	0.56630	0.1998	M	0.66939	2.045	0.48830	D	0.999716	B	0.23650	0.089	B	0.18871	0.023	T	0.61584	-0.7033	9	0.72032	D	0.01	-14.4784	8.6818	0.34214	0.0:0.8835:0.0:0.1165	.	326	Q504T8	MIDN_HUMAN	L	326	.	ENSP00000300952:S326L	S	+	2	0	MIDN	1206541	0.984000	0.35163	0.976000	0.42696	0.958000	0.62258	2.814000	0.48010	1.785000	0.52413	0.462000	0.41574	TCG		0.716	MIDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449965.2			T	1255541	C	T	1255541	3	4	683	1	0	0	0	0	1	0	0	0	9581	893	31	1	999	1	MIDN	19	1255541	Missense_Mutation	SNP	C	TCGA-IA-A83V-01A-11D-A34Z-10		1255541	57873442	44	37756											
LOC729991-MEF2B	100271849	hgsc.bcm.edu	37	19	19257425	19257425	+	Silent	SNP	G	G	A			TCGA-IA-A83V-01A-11D-A34Z-10	TCGA-IA-A83V-11A-11D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f9166f6-9ec6-4026-b8b0-23be6e2c7cdd	d632f44e-8673-43b1-9b56-519cdbbd3008	g.chr19:19257425G>A	ENST00000602424.2	-	9	1434	c.708C>T	c.(706-708)tgC>tgT	p.C236C	MEF2BNB-MEF2B_ENST00000444486.3_Silent_p.C236C|MEF2BNB-MEF2B_ENST00000514819.3_Silent_p.C253C|MEF2B_ENST00000409224.1_Silent_p.C239C|MEF2B_ENST00000409447.2_Missense_Mutation_p.L192F|MEF2BNB-MEF2B_ENST00000602276.1_5'Flank|MEF2B_ENST00000410050.1_Silent_p.C236C|MEF2B_ENST00000162023.5_Silent_p.C236C|MEF2B_ENST00000424583.2_Silent_p.C236C	NM_005919.3	NP_005910.1	Q02080	MEF2B_HUMAN	myocyte enhancer factor 2B	236					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)			TTGCAGTGGAGCAGGGGTTCT	0.667																																																0													28	31	30					19																	19257425		2200	4297	6497	SO:0001819	synonymous_variant	4207			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.708C>T	chr19.hg19:g.19257425G>A			A0AV80|B4DVH7|B7ZVY1|G5E9M1	Silent	SNP	ENST00000602424.2	hg19	CCDS12394.1	.	.	.	.	.	.	.	.	.	.	G	8.757	0.922660	0.18056	.	.	ENSG00000213999	ENST00000409447	.	.	.	4.49	2.35	0.29111	.	.	.	.	.	T	0.16769	0.0403	.	.	.	0.22591	N	0.998958	P	0.44578	0.838	B	0.30029	0.11	T	0.13980	-1.0489	7	0.62326	D	0.03	-6.4313	5.9893	0.19452	0.2352:0.0:0.7648:0.0	.	239	B8ZZJ5	.	F	239	.	ENSP00000386784:L239F	L	-	1	0	MEF2B	19118425	0.007000	0.16637	0.025000	0.17156	0.115000	0.19883	0.405000	0.21015	0.891000	0.36235	0.561000	0.74099	CTC		0.667	MEF2B-202	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_005919		A	19257425	G	A	19257425	2	1	683	1	0	0	0	0	0	0	0	1	8891	963	34	2		2	LOC729991-MEF2B	19	19257425	Silent	SNP	G	TCGA-IA-A83V-01A-11D-A34Z-10	18001884	19257425	39871558	45	37757											
C19orf55	126393	hgsc.bcm.edu	37	19	36250862	36250862	+	5'Flank	SNP	T	T	C			TCGA-IA-A83V-01A-11D-A34Z-10	TCGA-IA-A83V-11A-11D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f9166f6-9ec6-4026-b8b0-23be6e2c7cdd	d632f44e-8673-43b1-9b56-519cdbbd3008	g.chr19:36250862T>C	ENST00000592984.1	-	0	0				HSPB6_ENST00000587965.1_5'Flank|C19orf55_ENST00000536950.1_Missense_Mutation_p.L94P|C19orf55_ENST00000396908.4_Missense_Mutation_p.L94P|C19orf55_ENST00000537459.1_Missense_Mutation_p.L94P|HSPB6_ENST00000004982.3_5'Flank|C19orf55_ENST00000544099.1_Missense_Mutation_p.L94P|C19orf55_ENST00000421853.2_Intron			O14558	HSPB6_HUMAN	heat shock protein, alpha-crystallin-related, B6						regulation of muscle contraction (GO:0006937)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)|structural constituent of eye lens (GO:0005212)			lung(1)	1	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCACCCACCCTGATTGACAGC	0.602																																																0													25	27	26					19																	36250862		1954	4128	6082	SO:0001631	upstream_gene_variant	148137			AJ278121	CCDS12475.1	19q13.13	2014-06-12			ENSG00000004776	ENSG00000004776		"Heat shock proteins / HSPB"	26511	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 91"	610695				12820654, 14717697	Standard	NM_144617		Approved	FLJ32389, Hsp20, PPP1R91	uc002obn.2	O14558	OTTHUMG00000048122		chr19.hg19:g.36250862T>C	Exception_encountered		O14551|Q6NVI3|Q96MG9	Missense_Mutation	SNP	ENST00000592984.1	hg19	CCDS12475.1	.	.	.	.	.	.	.	.	.	.	T	3.312	-0.140508	0.06669	.	.	ENSG00000167595	ENST00000444637;ENST00000396908;ENST00000301165;ENST00000537459;ENST00000545674	T;T;T;T	0.51574	0.7;0.7;0.7;0.7	3.65	1.5	0.22942	.	0.723756	0.10666	N	0.648169	T	0.38931	0.1059	L	0.55481	1.735	0.19945	N	0.999942	B;B;B	0.17667	0.008;0.023;0.023	B;B;B	0.17098	0.007;0.017;0.017	T	0.32981	-0.9886	10	0.39692	T	0.17	-2.0221	4.561	0.12160	0.0:0.324:0.0:0.676	.	94;94;94	E5RFB9;Q2NL68-3;Q2NL68-4	.;.;.	P	9;94;94;9;9	ENSP00000394231:L9P;ENSP00000380116:L94P;ENSP00000301165:L94P;ENSP00000440357:L9P	ENSP00000301165:L94P	L	+	2	0	C19orf55	40942702	0.002000	0.14202	0.003000	0.11579	0.045000	0.14185	1.163000	0.31798	0.284000	0.22305	0.383000	0.25322	CTG		0.602	HSPB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109498.3	NM_144617		C	36250862	T	C	36250862	1	2	683	0	1	0	0	0	0	0	0	0	1939	1580	55	3		3	C19orf55	19	36250862	5'Flank	SNP	T	TCGA-IA-A83V-01A-11D-A34Z-10	16993437	36250862	22878121	46	37758											
ZNF780A	284323	hgsc.bcm.edu	37	19	40589098	40589098	+	Missense_Mutation	SNP	T	T	A			TCGA-IA-A83V-01A-11D-A34Z-10	TCGA-IA-A83V-11A-11D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f9166f6-9ec6-4026-b8b0-23be6e2c7cdd	d632f44e-8673-43b1-9b56-519cdbbd3008	g.chr19:40589098T>A	ENST00000595687.2	-	4	265	c.56A>T	c.(55-57)gAg>gTg	p.E19V	AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000340963.5_Missense_Mutation_p.E19V|ZNF780A_ENST00000594395.1_Missense_Mutation_p.E19V|ZNF780A_ENST00000455521.1_Missense_Mutation_p.E19V|ZNF780A_ENST00000450241.2_5'UTR|ZNF780A_ENST00000414720.2_Missense_Mutation_p.E35V	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GCACTCCCACTCCTCCTGAGA	0.478																																																0													127	115	119					19																	40589098		2203	4297	6500	SO:0001583	missense	284323			AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"Zinc fingers, C2H2-type", "-"	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.56A>T	chr19.hg19:g.40589098T>A	ENSP00000472189:p.Glu19Val		E9PB48|Q6ZN87	Missense_Mutation	SNP	ENST00000595687.2	hg19	CCDS33026.2	.	.	.	.	.	.	.	.	.	.	T	23.4	4.410399	0.83340	.	.	ENSG00000197782	ENST00000443072;ENST00000450241;ENST00000414720;ENST00000455521;ENST00000340963	T;T;T	0.12361	2.69;2.69;2.69	1.65	1.65	0.23941	Krueppel-associated box (4);	.	.	.	.	T	0.54431	0.1858	H	0.99815	4.805	0.28205	N	0.927167	D;P;D	0.89917	0.975;0.789;1.0	D;B;D	0.91635	0.987;0.33;0.999	T	0.52290	-0.8595	9	0.87932	D	0	.	6.9604	0.24593	0.0:0.0:0.0:1.0	.	19;19;35	E9PB48;O75290;O75290-2	.;Z780A_HUMAN;.	V	19;19;35;19;19	ENSP00000416294:E35V;ENSP00000400997:E19V;ENSP00000341507:E19V	ENSP00000341507:E19V	E	-	2	0	ZNF780A	45280938	0.947000	0.32204	0.894000	0.35097	0.973000	0.67179	1.929000	0.40114	0.749000	0.32854	0.254000	0.18369	GAG		0.478	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	NM_001010880		A	40589098	T	A	40589098	3	1	683	1	0	0	0	0	1	0	0	0	18157	1551	54	5	2011	5	ZNF780A	19	40589098	Missense_Mutation	SNP	T	TCGA-IA-A83V-01A-11D-A34Z-10	4338236	40589098	18539885	47	37759											
ZNF226	7769	hgsc.bcm.edu	37	19	44681813	44681816	+	Frame_Shift_Del	DEL	AAAT	AAAT	-			TCGA-IA-A83V-01A-11D-A34Z-10	TCGA-IA-A83V-11A-11D-A34Z-10	AAAT	AAAT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f9166f6-9ec6-4026-b8b0-23be6e2c7cdd	d632f44e-8673-43b1-9b56-519cdbbd3008	g.chr19:44681813_44681816delAAAT	ENST00000590089.1	+	7	2765_2768	c.2398_2401delAAAT	c.(2398-2403)aaatctfs	p.KS800fs	ZNF226_ENST00000454662.2_Frame_Shift_Del_p.KS800fs|ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000337433.5_Frame_Shift_Del_p.KS800fs			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	800					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)				ACAGGAAAAAAAATCTATAAAATG	0.382																																					Pancreas(115;581 1665 13228 19278 50070)											0																																										SO:0001589	frameshift_variant	7769			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.2398_2401delAAAT	chr19.hg19:g.44681813_44681816delAAAT	ENSP00000465121:p.Lys800fs		Q8WWE6|Q96TE6|Q9NS44	Frame_Shift_Del	DEL	ENST00000590089.1	hg19	CCDS46102.1																																																																																				0.382	ZNF226-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460712.1			-	44681816	AAAT	-	44681813	7	5	683	1	0	1	0	1	0	0	0	0	17785	15	1	0	2466	0	ZNF226	19	44681813	Frame_Shift_Del	DEL	AAAT	TCGA-IA-A83V-01A-11D-A34Z-10	4092715	44681813	14447170	48	37760											
RUNX1	861	hgsc.bcm.edu	37	21	36206708	36206708	+	Splice_Site	SNP	C	C	T			TCGA-IA-A83V-01A-11D-A34Z-10	TCGA-IA-A83V-11A-11D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f9166f6-9ec6-4026-b8b0-23be6e2c7cdd	d632f44e-8673-43b1-9b56-519cdbbd3008	g.chr21:36206708C>T	ENST00000344691.4	-	4	2300	c.723G>A	c.(721-723)caG>caA	p.Q241Q	RUNX1_ENST00000437180.1_Splice_Site_p.Q268Q|RUNX1_ENST00000399240.1_Intron|RUNX1_ENST00000358356.5_Splice_Site_p.Q241Q|RUNX1_ENST00000325074.5_Splice_Site_p.Q256Q|RUNX1_ENST00000300305.3_Splice_Site_p.Q268Q	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	241	Pro/Ser/Thr-rich.	Breakpoint for translocation to form AML1-EAP in T-MDS and CML and to form type II MACROD1-RUNX1 fusion protein.			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						GGTACTTACCCTGCATCTGAC	0.637			T	"RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"	"AML, preB- ALL, T-ALL"																																		Dom	yes		21	21q22.3	861	runt-related transcription factor 1  (AML1)		L	0													93	90	91					21																	36206708		2203	4300	6503	SO:0001630	splice_region_variant	861			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.724+1G>A	chr21.hg19:g.36206708C>T			A8MV94|B2RMS4|D3DSG1|O60472|O60473|O76047|O76089|Q13081|Q13755|Q13756|Q13757|Q13758|Q13759|Q15341|Q15343|Q16122|Q16284|Q16285|Q16286|Q16346|Q16347|Q92479	Silent	SNP	ENST00000344691.4	hg19	CCDS42922.1																																																																																				0.637	RUNX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000194230.1		Silent	T	36206708	C	T	36206708	5	4	683	1	0	0	0	0	0	0	1	0	13752	695	24	2	683	2	RUNX1	21	36206708	Splice_Site	SNP	C	TCGA-IA-A83V-01A-11D-A34Z-10		36206708	11923187	49	37761											
SEPT5	5413	hgsc.bcm.edu	37	22	19709805	19709805	+	Silent	SNP	G	G	A			TCGA-IA-A83V-01A-11D-A34Z-10	TCGA-IA-A83V-11A-11D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f9166f6-9ec6-4026-b8b0-23be6e2c7cdd	d632f44e-8673-43b1-9b56-519cdbbd3008	g.chr22:19709805G>A	ENST00000455784.2	+	11	1121	c.996G>A	c.(994-996)ctG>ctA	p.L332L	SEPT5_ENST00000383045.3_Silent_p.L341L|GP1BB_ENST00000366425.3_5'Flank|SEPT5_ENST00000406395.1_Missense_Mutation_p.A329T|SEPT5_ENST00000438754.2_Missense_Mutation_p.A338T	NM_002688.5	NP_002679.2	Q99719	SEPT5_HUMAN	septin 5	332					cytokinesis (GO:0000910)|GTP catabolic process (GO:0006184)|regulation of exocytosis (GO:0017157)|regulation of synaptic vesicle exocytosis (GO:2000300)|synaptic vesicle targeting (GO:0016080)	plasma membrane (GO:0005886)|septin complex (GO:0031105)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					TCCCGATCCTGCCGCTGCCCA	0.711																																																0													14	19	18					22																	19709805		2175	4265	6440	SO:0001819	synonymous_variant	5413			Y11593	CCDS13764.1, CCDS56224.1	22q11.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000184702	ENSG00000184702		"Septins"	9164	protein-coding gene	gene with protein product		602724	"peanut-like 1 (Drosophila)"	PNUTL1		9385360, 9611266	Standard	NM_002688		Approved	HCDCREL-1, H5		Q99719	OTTHUMG00000150399	ENST00000455784.2:c.996G>A	chr22.hg19:g.19709805G>A			O15251|Q96MY5	Missense_Mutation	SNP	ENST00000455784.2	hg19	CCDS13764.1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.705363	0.48412	.	.	ENSG00000184702	ENST00000406395;ENST00000438754	T;T	0.55052	0.54;0.54	3.79	-0.381	0.12485	.	.	.	.	.	T	0.47451	0.1446	.	.	.	0.22226	N	0.999276	.	.	.	.	.	.	T	0.47328	-0.9126	6	0.87932	D	0	.	5.5224	0.16939	0.2298:0.1586:0.6116:0.0	.	.	.	.	T	329;338	ENSP00000384535:A329T;ENSP00000394541:A338T	ENSP00000384535:A329T	A	+	1	0	SEPT5	18089805	1.000000	0.71417	0.996000	0.52242	0.955000	0.61496	2.131000	0.42074	-0.176000	0.10707	0.297000	0.19635	GCC		0.711	SEPT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317937.1	NM_002688		A	19709805	G	A	19709805	2	1	683	1	0	0	0	0	0	0	0	1	14073	1306	46	2		2	SEPT5	22	19709805	Silent	SNP	G	TCGA-IA-A83V-01A-11D-A34Z-10		19709805	31594761	50	37762											
FAM48B1	100130302	hgsc.bcm.edu	37	X	24381466	24381466	+	IGR	SNP	G	G	C			TCGA-IA-A83V-01A-11D-A34Z-10	TCGA-IA-A83V-11A-11D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f9166f6-9ec6-4026-b8b0-23be6e2c7cdd	d632f44e-8673-43b1-9b56-519cdbbd3008	g.chrX:24381466G>C								AC004552.1 (14443 upstream) : PDK3 (101871 downstream)																							GCTTCAGCTTGAGAGCCAGCT	0.478																																																0													149	126	133					X																	24381466		1568	3582	5150	SO:0001628	intergenic_variant	100130302																															chrX.hg19:g.24381466G>C				Missense_Mutation	SNP		hg19																																																																																				0	0.478									C	24381466	G	C	24381466	1	2	683	0	1	0	0	0	0	0	0	0	5575	1291	45	4		4	FAM48B1	23	24381466	IGR	SNP	G	TCGA-IA-A83V-01A-11D-A34Z-10		24381466	130889094	51	37763											
BRCC3	79184	hgsc.bcm.edu	37	X	154299852	154299852	+	Missense_Mutation	SNP	A	A	G			TCGA-IA-A83V-01A-11D-A34Z-10	TCGA-IA-A83V-11A-11D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f9166f6-9ec6-4026-b8b0-23be6e2c7cdd	d632f44e-8673-43b1-9b56-519cdbbd3008	g.chrX:154299852A>G	ENST00000369462.1	+	1	75	c.50A>G	c.(49-51)gAc>gGc	p.D17G	BRCC3_ENST00000399042.1_Missense_Mutation_p.D17G|CMC4_ENST00000369484.3_5'Flank|MTCP1_ENST00000369476.3_5'Flank|MTCP1_ENST00000362018.2_Intron|BRCC3_ENST00000369459.2_Missense_Mutation_p.D17G|BRCC3_ENST00000330045.7_Missense_Mutation_p.D17G|BRCC3_ENST00000340647.4_Missense_Mutation_p.D17G|MTCP1_ENST00000482244.1_5'Flank	NM_024332.3	NP_077308.1	P46736	BRCC3_HUMAN	BRCA1/BRCA2-containing complex, subunit 3	17	MPN.				double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|histone H2A K63-linked deubiquitination (GO:0070537)|positive regulation of DNA repair (GO:0045739)|protein K63-linked deubiquitination (GO:0070536)|regulation of catalytic activity (GO:0050790)|response to ionizing radiation (GO:0010212)|response to X-ray (GO:0010165)	BRCA1-A complex (GO:0070531)|BRISC complex (GO:0070552)|nuclear ubiquitin ligase complex (GO:0000152)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	enzyme regulator activity (GO:0030234)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|polyubiquitin binding (GO:0031593)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1)	22	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)					CTCGAGTCTGACGCTTTCCTC	0.597																																																0													50	68	62					X																	154299852		2130	4207	6337	SO:0001583	missense	79184			X64643	CCDS56610.1, CCDS56611.1, CCDS56612.1	Xq28	2013-05-29	2005-11-21	2005-11-21	ENSG00000185515	ENSG00000185515			24185	protein-coding gene	gene with protein product	"Lys-63-specific deubiquitinase"	300617	"chromosome X open reading frame 53"	CXorf53		1303175, 14636569	Standard	NM_024332		Approved	C6.1A, BRCC36	uc004fna.3	P46736	OTTHUMG00000022658	ENST00000369462.1:c.50A>G	chrX.hg19:g.154299852A>G	ENSP00000358474:p.Asp17Gly		A6QRF8|A6QRF9|A8MUX5|A8MWH0|A9Z1Y0|A9Z1Y5|B1B062|B4DQN7|Q16107|Q53YX5|Q9BTZ6	Missense_Mutation	SNP	ENST00000369462.1	hg19	CCDS56611.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.334459	0.81801	.	.	ENSG00000185515	ENST00000340647;ENST00000330045;ENST00000369459;ENST00000369462;ENST00000411985;ENST00000399042;ENST00000457026	T;T;T;T;T;T	0.64085	-0.08;0.4;0.4;0.4;0.4;0.4	3.96	3.96	0.45880	.	0.000000	0.85682	D	0.000000	T	0.74329	0.3702	M	0.80616	2.505	0.80722	D	1	D;D;D	0.63046	0.992;0.992;0.991	P;P;P	0.61592	0.891;0.891;0.881	T	0.76255	-0.3026	10	0.56958	D	0.05	-11.2441	8.8139	0.34985	1.0:0.0:0.0:0.0	.	17;17;17	P46736-3;P46736-2;P46736	.;.;BRCC3_HUMAN	G	17	ENSP00000344103:D17G;ENSP00000328641:D17G;ENSP00000358471:D17G;ENSP00000358474:D17G;ENSP00000413170:D17G;ENSP00000381998:D17G	ENSP00000328641:D17G	D	+	2	0	BRCC3	153953046	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	8.070000	0.89493	1.531000	0.49152	0.417000	0.27973	GAC		0.597	BRCC3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058788.4	NM_024332		G	154299852	A	G	154299852	3	3	683	1	0	0	0	0	1	0	0	0	1502	275	10	3	52	3	BRCC3	23	154299852	Missense_Mutation	SNP	A	TCGA-IA-A83V-01A-11D-A34Z-10	129918386	154299852	970708	52	37764											
VPS13D	55187	hgsc.bcm.edu	37	1	12567023	12567023	+	Missense_Mutation	SNP	A	A	G			TCGA-IA-A83W-01A-11D-A34Z-10	TCGA-IA-A83W-11A-11D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b5bc3d4-904a-4ece-a4fb-4263014e4b39	da2fe768-0f46-492c-99cc-6b417fd4a40c	g.chr1:12567023A>G	ENST00000358136.3	+	69	13041	c.12911A>G	c.(12910-12912)tAc>tGc	p.Y4304C	VPS13D_ENST00000543766.1_Missense_Mutation_p.Y302C|VPS13D_ENST00000356315.4_Missense_Mutation_p.Y4279C|VPS13D_ENST00000471923.1_5'UTR|VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000543710.1_Missense_Mutation_p.Y108C|SNORA59A_ENST00000459326.1_RNA	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)		GAAGTCAAATACGATGACCTC	0.498																																																0													135	127	129					1																	12567023		2203	4300	6503	SO:0001583	missense	55187			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"vacuolar protein sorting 13D (yeast)"				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.12911A>G	chr1.hg19:g.12567023A>G	ENSP00000350854:p.Tyr4304Cys			Missense_Mutation	SNP	ENST00000358136.3	hg19	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.479843|4.479843	0.84747|0.84747	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000011700|ENST00000356315;ENST00000358136;ENST00000543766;ENST00000543710	.|T;T;T	.|0.77750	.|0.54;0.53;-1.12	5.88|5.88	5.88|5.88	0.94601|0.94601	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.85106|0.85106	0.5621|0.5621	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.999;0.998	.|D;D;D	.|0.74348	.|0.976;0.983;0.962	D|D	0.86187|0.86187	0.1610|0.1610	5|10	.|0.66056	.|D	.|0.02	.|.	16.2879|16.2879	0.82732|0.82732	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|302;4279;4303	.|F5GX56;Q5THJ4-2;Q5THJ4	.|.;.;VP13D_HUMAN	A|C	3126|4279;4304;302;108	.|ENSP00000348666:Y4279C;ENSP00000350854:Y4304C;ENSP00000441122:Y302C	.|ENSP00000348666:Y4279C	T|Y	+|+	1|2	0|0	VPS13D|VPS13D	12489610|12489610	1.000000|1.000000	0.71417|0.71417	0.754000|0.754000	0.31244|0.31244	0.978000|0.978000	0.69477|0.69477	8.882000|8.882000	0.92420|0.92420	2.242000|2.242000	0.73789|0.73789	0.533000|0.533000	0.62120|0.62120	ACG|TAC		0.498	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		G	12567023	A	G	12567023	3	3	684	1	0	0	0	0	1	0	0	0	17197	391	14	3	13181	3	VPS13D	1	12567023	Missense_Mutation	SNP	A	TCGA-IA-A83W-01A-11D-A34Z-10		12567023	236683598	1	37765											
COL11A1	1301	hgsc.bcm.edu	37	1	103471851	103471851	+	Silent	SNP	A	A	G			TCGA-IA-A83W-01A-11D-A34Z-10	TCGA-IA-A83W-11A-11D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b5bc3d4-904a-4ece-a4fb-4263014e4b39	da2fe768-0f46-492c-99cc-6b417fd4a40c	g.chr1:103471851A>G	ENST00000370096.3	-	16	2016	c.1704T>C	c.(1702-1704)ggT>ggC	p.G568G	COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000512756.1_Silent_p.G452G|COL11A1_ENST00000353414.4_Silent_p.G529G|COL11A1_ENST00000358392.2_Silent_p.G580G	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	568	Collagen-like 2.|Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GACCAGGGGGACCCTGGACGC	0.378																																																0													47	54	52					1																	103471851		2203	4300	6503	SO:0001819	synonymous_variant	1301			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1704T>C	chr1.hg19:g.103471851A>G			B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Silent	SNP	ENST00000370096.3	hg19	CCDS778.1																																																																																				0.378	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		G	103471851	A	G	103471851	2	3	684	1	0	0	0	0	0	0	0	1	3669	262	10	3		3	COL11A1	1	103471851	Silent	SNP	A	TCGA-IA-A83W-01A-11D-A34Z-10	90904828	103471851	145778770	2	37766											
GABPB2	126626	hgsc.bcm.edu	37	1	151079554	151079554	+	Missense_Mutation	SNP	T	T	C			TCGA-IA-A83W-01A-11D-A34Z-10	TCGA-IA-A83W-11A-11D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b5bc3d4-904a-4ece-a4fb-4263014e4b39	da2fe768-0f46-492c-99cc-6b417fd4a40c	g.chr1:151079554T>C	ENST00000368918.3	+	7	1109	c.778T>C	c.(778-780)Tca>Cca	p.S260P	GABPB2_ENST00000368916.1_Missense_Mutation_p.S222P|GABPB2_ENST00000467551.1_3'UTR|GABPB2_ENST00000368917.1_Missense_Mutation_p.S222P	NM_144618.2	NP_653219.1	Q8TAK5	GABP2_HUMAN	GA binding protein transcription factor, beta subunit 2	260					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7)	15				all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)		CGTTGACTCATCAATCCAGCA	0.408																																																0													74	74	74					1																	151079554		2203	4300	6503	SO:0001583	missense	126626				CCDS983.1	1q21.2	2013-01-10			ENSG00000143458	ENSG00000143458		"Ankyrin repeat domain containing"	28441	protein-coding gene	gene with protein product						7958862	Standard	NM_144618		Approved	MGC29891	uc001ewr.2	Q8TAK5	OTTHUMG00000012193	ENST00000368918.3:c.778T>C	chr1.hg19:g.151079554T>C	ENSP00000357914:p.Ser260Pro		B1AVJ8|D3DV14|Q8NAR5	Missense_Mutation	SNP	ENST00000368918.3	hg19	CCDS983.1	.	.	.	.	.	.	.	.	.	.	T	18.66	3.671611	0.67928	.	.	ENSG00000143458	ENST00000368918;ENST00000368917;ENST00000368916	T;T;T	0.60548	0.18;0.24;0.24	5.41	4.27	0.50696	.	0.422547	0.26026	N	0.026794	T	0.37652	0.1011	L	0.50333	1.59	0.38047	D	0.935656	P;P;P	0.45715	0.534;0.865;0.668	B;B;B	0.43478	0.092;0.421;0.28	T	0.23833	-1.0177	10	0.28530	T	0.3	-6.6402	9.4384	0.38653	0.0:0.0:0.2761:0.7239	.	222;260;260	Q5SZG2;B2R924;Q8TAK5	.;.;GABP2_HUMAN	P	260;222;222	ENSP00000357914:S260P;ENSP00000357913:S222P;ENSP00000357912:S222P	ENSP00000357912:S222P	S	+	1	0	GABPB2	149346178	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	3.278000	0.51662	2.269000	0.75478	0.455000	0.32223	TCA		0.408	GABPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033700.2	NM_144618		C	151079554	T	C	151079554	3	2	684	1	0	0	0	0	1	0	0	0	6161	1435	50	3	800	3	GABPB2	1	151079554	Missense_Mutation	SNP	T	TCGA-IA-A83W-01A-11D-A34Z-10	47607703	151079554	98171067	3	37767											
BIRC6	57448	hgsc.bcm.edu	37	2	32754825	32754825	+	Missense_Mutation	SNP	T	T	C			TCGA-IA-A83W-01A-11D-A34Z-10	TCGA-IA-A83W-11A-11D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b5bc3d4-904a-4ece-a4fb-4263014e4b39	da2fe768-0f46-492c-99cc-6b417fd4a40c	g.chr2:32754825T>C	ENST00000421745.2	+	60	12162	c.12028T>C	c.(12028-12030)Tca>Cca	p.S4010P	MIR558_ENST00000384920.1_RNA	NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4010					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)					TAAATTGGGATCAAGAGTTAT	0.373																																					Pancreas(94;175 1509 16028 18060 45422)											0													81	78	79					2																	32754825		2203	4300	6503	SO:0001583	missense	57448			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"Baculoviral IAP repeat containing", "Ubiquitin-conjugating enzymes E2"	13516	protein-coding gene	gene with protein product	"apollon"	605638	"baculoviral IAP repeat-containing 6"			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.12028T>C	chr2.hg19:g.32754825T>C	ENSP00000393596:p.Ser4010Pro		Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	hg19	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	T	24.7	4.557828	0.86231	.	.	ENSG00000115760	ENST00000421745	T	0.79940	-1.32	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.81498	0.4835	N	0.19112	0.55	0.80722	D	1	D	0.54601	0.967	D	0.63033	0.91	D	0.84394	0.0556	10	0.66056	D	0.02	.	15.073	0.72053	0.0:0.0:0.0:1.0	.	4010	Q9NR09	BIRC6_HUMAN	P	4010	ENSP00000393596:S4010P	ENSP00000393596:S4010P	S	+	1	0	BIRC6	32608329	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.608000	0.82898	1.975000	0.57531	0.477000	0.44152	TCA		0.373	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		C	32754825	T	C	32754825	3	2	684	1	0	0	0	0	1	0	0	0	1438	1435	50	3	12266	3	BIRC6	2	32754825	Missense_Mutation	SNP	T	TCGA-IA-A83W-01A-11D-A34Z-10		32754825	210444548	4	37768											
ORC2L	4999	hgsc.bcm.edu	37	2	201814321	201814321	+	Missense_Mutation	SNP	T	T	A			TCGA-IA-A83W-01A-11D-A34Z-10	TCGA-IA-A83W-11A-11D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b5bc3d4-904a-4ece-a4fb-4263014e4b39	da2fe768-0f46-492c-99cc-6b417fd4a40c	g.chr2:201814321T>A	ENST00000234296.2	-	5	533	c.284A>T	c.(283-285)tAt>tTt	p.Y95F	ORC2_ENST00000467605.1_5'UTR	NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2	95					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	condensed chromosome inner kinetochore (GO:0000939)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	DNA replication origin binding (GO:0003688)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						CTGAAAAGAATAAACTTTATT	0.284																																																0													52	51	51					2																	201814321		2202	4290	6492	SO:0001583	missense	4999				CCDS2334.1	2q33	2010-10-12	2010-10-12	2010-10-12	ENSG00000115942	ENSG00000115942			8488	protein-coding gene	gene with protein product		601182	"origin recognition complex, subunit 2 (yeast homolog)-like", "origin recognition complex, subunit 2-like (yeast)", "origin recognition complex, subunit 2 homolog (yeast)"	ORC2L		8808289	Standard	NM_006190		Approved		uc002uwr.3	Q13416	OTTHUMG00000132783	ENST00000234296.2:c.284A>T	chr2.hg19:g.201814321T>A	ENSP00000234296:p.Tyr95Phe		Q13204|Q53TX5	Missense_Mutation	SNP	ENST00000234296.2	hg19	CCDS2334.1	.	.	.	.	.	.	.	.	.	.	T	13.28	2.190690	0.38707	.	.	ENSG00000115942	ENST00000234296;ENST00000410039	T;T	0.47177	1.38;0.85	5.71	4.54	0.55810	.	0.062023	0.64402	D	0.000002	T	0.31420	0.0796	L	0.35723	1.085	0.38691	D	0.952751	B;B	0.16802	0.019;0.015	B;B	0.17098	0.017;0.01	T	0.15665	-1.0429	10	0.02654	T	1	-8.9205	9.1288	0.36833	0.1624:0.0:0.0:0.8376	.	95;95	B4DYU9;Q13416	.;ORC2_HUMAN	F	95	ENSP00000234296:Y95F;ENSP00000386390:Y95F	ENSP00000234296:Y95F	Y	-	2	0	ORC2	201522566	1.000000	0.71417	0.996000	0.52242	0.952000	0.60782	4.333000	0.59285	0.966000	0.38159	0.477000	0.44152	TAT		0.284	ORC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256191.2	NM_006190		A	201814321	T	A	201814321	3	1	684	1	0	0	0	0	1	0	0	0	11264	1406	49	5	1505	5	ORC2L	2	201814321	Missense_Mutation	SNP	T	TCGA-IA-A83W-01A-11D-A34Z-10	169059496	201814321	41385052	5	37769											
IGFBP2	3485	hgsc.bcm.edu	37	2	217528687	217528687	+	Missense_Mutation	SNP	C	C	T			TCGA-IA-A83W-01A-11D-A34Z-10	TCGA-IA-A83W-11A-11D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b5bc3d4-904a-4ece-a4fb-4263014e4b39	da2fe768-0f46-492c-99cc-6b417fd4a40c	g.chr2:217528687C>T	ENST00000233809.4	+	4	967	c.838C>T	c.(838-840)Cgt>Tgt	p.R280C	IGFBP2_ENST00000456764.1_Missense_Mutation_p.R136C	NM_000597.2	NP_000588	P18065	IBP2_HUMAN	insulin-like growth factor binding protein 2, 36kDa	280	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				aging (GO:0007568)|cellular protein metabolic process (GO:0044267)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|positive regulation of activated T cell proliferation (GO:0042104)|regulation of cell growth (GO:0001558)|regulation of insulin-like growth factor receptor signaling pathway (GO:0043567)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)			endometrium(2)|large_intestine(1)|lung(2)	5		Renal(323;0.0458)		Epithelial(149;2.9e-06)|all cancers(144;0.000223)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00968)		GAACGGGCAGCGTGGGGAGTG	0.612																																																0													36	44	41					2																	217528687		2054	4192	6246	SO:0001583	missense	3485				CCDS42815.1	2q35	2014-09-16	2002-08-29		ENSG00000115457	ENSG00000115457			5471	protein-coding gene	gene with protein product		146731	"insulin-like growth factor binding protein 2 (36kD)"	IBP2		1697583	Standard	NM_000597		Approved		uc021vwn.1	P18065	OTTHUMG00000155341	ENST00000233809.4:c.838C>T	chr2.hg19:g.217528687C>T	ENSP00000233809:p.Arg280Cys		Q14619|Q9UCL3	Missense_Mutation	SNP	ENST00000233809.4	hg19	CCDS42815.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.029265	0.75504	.	.	ENSG00000115457	ENST00000233809;ENST00000456764	T;T	0.65916	-0.18;-0.18	4.78	4.78	0.61160	Thyroglobulin type-1 (6);	0.000000	0.85682	D	0.000000	D	0.83936	0.5362	M	0.92219	3.285	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87978	0.2741	10	0.87932	D	0	-0.1858	17.3391	0.87291	0.0:1.0:0.0:0.0	.	280	P18065	IBP2_HUMAN	C	280;136	ENSP00000233809:R280C;ENSP00000389646:R136C	ENSP00000233809:R280C	R	+	1	0	IGFBP2	217236932	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.656000	0.46716	2.626000	0.88956	0.561000	0.74099	CGT		0.612	IGFBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339540.1	NM_000597		T	217528687	C	T	217528687	3	4	684	1	0	0	0	0	1	0	0	0	7581	768	27	1	852	1	IGFBP2	2	217528687	Missense_Mutation	SNP	C	TCGA-IA-A83W-01A-11D-A34Z-10	15714366	217528687	25670686	6	37770											
STK11IP	114790	hgsc.bcm.edu	37	2	220477901	220477901	+	Missense_Mutation	SNP	G	G	A			TCGA-IA-A83W-01A-11D-A34Z-10	TCGA-IA-A83W-11A-11D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b5bc3d4-904a-4ece-a4fb-4263014e4b39	da2fe768-0f46-492c-99cc-6b417fd4a40c	g.chr2:220477901G>A	ENST00000456909.1	+	20	2581	c.2491G>A	c.(2491-2493)Gtg>Atg	p.V831M	STK11IP_ENST00000295641.10_Missense_Mutation_p.V842M			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	842					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)		CCTTGTGGTTGTGTCTGACCG	0.597																																																0													82	87	85					2																	220477901		2038	4189	6227	SO:0001583	missense	114790			AF450267	CCDS46521.1	2q35	2008-06-03			ENSG00000144589	ENSG00000144589			19184	protein-coding gene	gene with protein product	"LKB1 interacting protein"	607172				11741830	Standard	NM_052902		Approved	LIP1, KIAA1898, LKB1IP, STK11IP1	uc002vml.3	Q8N1F8	OTTHUMG00000059239	ENST00000456909.1:c.2491G>A	chr2.hg19:g.220477901G>A	ENSP00000389383:p.Val831Met		Q8NAW9|Q8WXE4|Q96CN3|Q96PY9	Missense_Mutation	SNP	ENST00000456909.1	hg19		.	.	.	.	.	.	.	.	.	.	g	8.720	0.914062	0.17907	.	.	ENSG00000144589	ENST00000456909;ENST00000295641	T;T	0.07908	3.15;3.15	4.46	1.67	0.24075	.	0.145417	0.45126	D	0.000383	T	0.08714	0.0216	M	0.64997	1.995	0.28916	N	0.892419	B	0.21905	0.062	B	0.24848	0.056	T	0.18967	-1.0320	10	0.72032	D	0.01	-6.4198	2.8496	0.05553	0.1011:0.1965:0.5231:0.1793	.	842	Q8N1F8	S11IP_HUMAN	M	831;842	ENSP00000389383:V831M;ENSP00000295641:V842M	ENSP00000295641:V842M	V	+	1	0	STK11IP	220186145	0.885000	0.30320	0.682000	0.30024	0.431000	0.31685	1.140000	0.31516	0.160000	0.19432	-0.509000	0.04479	GTG		0.597	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000131432.1	NM_052902		A	220477901	G	A	220477901	3	1	684	1	0	0	0	0	1	0	0	0	15293	1377	48	2	2602	2	STK11IP	2	220477901	Missense_Mutation	SNP	G	TCGA-IA-A83W-01A-11D-A34Z-10	2949214	220477901	22721472	7	37771											
BHLHE40	8553	hgsc.bcm.edu	37	3	5025187	5025187	+	Missense_Mutation	SNP	T	T	C			TCGA-IA-A83W-01A-11D-A34Z-10	TCGA-IA-A83W-11A-11D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b5bc3d4-904a-4ece-a4fb-4263014e4b39	da2fe768-0f46-492c-99cc-6b417fd4a40c	g.chr3:5025187T>C	ENST00000256495.3	+	5	1652	c.1049T>C	c.(1048-1050)gTg>gCg	p.V350A		NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	350					circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|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)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|MRF binding (GO:0043426)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|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)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						TCAGTGCCAGTGCTATACCCA	0.592																																																0													169	143	152					3																	5025187		2203	4300	6503	SO:0001583	missense	8553			AB004066	CCDS2565.1	3p26	2009-01-12	2009-01-12	2009-01-12	ENSG00000134107	ENSG00000134107		"Basic helix-loop-helix proteins"	1046	protein-coding gene	gene with protein product	"differentially expressed in chondrocytes 1", " differentiated embryo chondrocyte expressed gene 1"	604256	"basic helix-loop-helix domain containing, class B, 2"	STRA13, BHLHB2		9240428, 10449910, 18557763	Standard	NM_003670		Approved	DEC1, bHLHe40	uc003bqf.3	O14503	OTTHUMG00000119035	ENST00000256495.3:c.1049T>C	chr3.hg19:g.5025187T>C	ENSP00000256495:p.Val350Ala		Q96TD3	Missense_Mutation	SNP	ENST00000256495.3	hg19	CCDS2565.1	.	.	.	.	.	.	.	.	.	.	T	12.84	2.057339	0.36277	.	.	ENSG00000134107	ENST00000256495	T	0.79749	-1.3	5.51	5.51	0.81932	.	0.385391	0.23815	N	0.044282	T	0.79633	0.4479	M	0.61703	1.905	0.18873	N	0.999988	B	0.12013	0.005	B	0.17098	0.017	T	0.71810	-0.4480	10	0.62326	D	0.03	.	15.6247	0.76845	0.0:0.0:0.0:1.0	.	350	O14503	BHE40_HUMAN	A	350	ENSP00000256495:V350A	ENSP00000256495:V350A	V	+	2	0	BHLHE40	5000187	0.997000	0.39634	0.027000	0.17364	0.972000	0.66771	6.116000	0.71571	2.093000	0.63338	0.533000	0.62120	GTG		0.592	BHLHE40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239244.2	NM_003670		C	5025187	T	C	5025187	3	2	684	1	0	0	0	0	1	0	0	0	1423	1696	59	3	1067	3	BHLHE40	3	5025187	Missense_Mutation	SNP	T	TCGA-IA-A83W-01A-11D-A34Z-10		5025187	192997243	8	37772											
SLC4A7	9497	hgsc.bcm.edu	37	3	27442329	27442329	+	Missense_Mutation	SNP	T	T	G			TCGA-IA-A83W-01A-11D-A34Z-10	TCGA-IA-A83W-11A-11D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b5bc3d4-904a-4ece-a4fb-4263014e4b39	da2fe768-0f46-492c-99cc-6b417fd4a40c	g.chr3:27442329T>G	ENST00000295736.5	-	16	2396	c.2326A>C	c.(2326-2328)Aat>Cat	p.N776H	SLC4A7_ENST00000455077.1_Missense_Mutation_p.N657H|SLC4A7_ENST00000446700.1_Missense_Mutation_p.N768H|SLC4A7_ENST00000454389.1_Missense_Mutation_p.N785H|SLC4A7_ENST00000428386.1_Missense_Mutation_p.N652H|SLC4A7_ENST00000437179.1_Missense_Mutation_p.N657H|SLC4A7_ENST00000435667.2_Missense_Mutation_p.N661H|SLC4A7_ENST00000388777.4_Missense_Mutation_p.N326H|SLC4A7_ENST00000440156.1_Missense_Mutation_p.N772H|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000445684.1_Missense_Mutation_p.N772H	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	776					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)	AGAGTTTCATTGCTGGGGTTT	0.323																																																0													155	152	153					3																	27442329		2203	4298	6501	SO:0001583	missense	9497			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.2326A>C	chr3.hg19:g.27442329T>G	ENSP00000295736:p.Asn776His		A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP	ENST00000295736.5	hg19	CCDS33721.1	.	.	.	.	.	.	.	.	.	.	T	15.43	2.831012	0.50845	.	.	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	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27	5.42	4.24	0.50183	Bicarbonate transporter, C-terminal (1);	0.215214	0.47455	D	0.000230	D	0.87497	0.6192	M	0.82323	2.585	0.80722	D	1	D;P;P;D;D;P;P;D;D	0.64830	0.992;0.922;0.645;0.961;0.992;0.946;0.904;0.992;0.994	D;P;B;P;D;P;P;D;D	0.75020	0.969;0.906;0.411;0.905;0.985;0.843;0.847;0.969;0.93	D	0.88094	0.2815	10	0.87932	D	0	.	11.6564	0.51320	0.1331:0.0:0.0:0.8669	.	772;657;768;772;785;326;652;776;657	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;F8W7E6;Q9Y6M7-2;Q9Y6M7;B2CI53	.;.;.;.;.;.;.;S4A7_HUMAN;.	H	327;776;652;785;772;657;768;657;772;661;326;672	ENSP00000411031:N327H;ENSP00000295736:N776H;ENSP00000416368:N652H;ENSP00000390394:N785H;ENSP00000414797:N772H;ENSP00000394252:N657H;ENSP00000406605:N768H;ENSP00000407382:N657H;ENSP00000406804:N772H;ENSP00000395336:N661H;ENSP00000373429:N326H;ENSP00000388703:N672H	ENSP00000295736:N776H	N	-	1	0	SLC4A7	27417333	1.000000	0.71417	1.000000	0.80357	0.653000	0.38743	6.272000	0.72575	0.876000	0.35872	0.377000	0.23210	AAT		0.323	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615		G	27442329	T	G	27442329	3	3	684	1	0	0	0	0	1	0	0	0	14664	1812	63	5	1358	5	SLC4A7	3	27442329	Missense_Mutation	SNP	T	TCGA-IA-A83W-01A-11D-A34Z-10	22417142	27442329	170580101	9	37773											
GOLGA4	2803	hgsc.bcm.edu	37	3	37365357	37365357	+	Silent	SNP	A	A	G			TCGA-IA-A83W-01A-11D-A34Z-10	TCGA-IA-A83W-11A-11D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b5bc3d4-904a-4ece-a4fb-4263014e4b39	da2fe768-0f46-492c-99cc-6b417fd4a40c	g.chr3:37365357A>G	ENST00000361924.2	+	14	2354	c.1980A>G	c.(1978-1980)aaA>aaG	p.K660K	GOLGA4_ENST00000356847.4_Silent_p.K682K|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	660	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						TGAAAGACAAAGAGATTATCT	0.338																																																0													45	48	47					3																	37365357		2203	4300	6503	SO:0001819	synonymous_variant	2803			U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"golgin 245"	602509	"golgi autoantigen, golgin subfamily a, 4"			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.1980A>G	chr3.hg19:g.37365357A>G			F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Silent	SNP	ENST00000361924.2	hg19	CCDS2666.1																																																																																				0.338	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078		G	37365357	A	G	37365357	2	3	684	1	0	0	0	0	0	0	0	1	6557	69	3	3		3	GOLGA4	3	37365357	Silent	SNP	A	TCGA-IA-A83W-01A-11D-A34Z-10	9923028	37365357	160657073	10	37774											
PBRM1	55193	hgsc.bcm.edu	37	3	52677267	52677267	+	Missense_Mutation	SNP	T	T	C			TCGA-IA-A83W-01A-11D-A34Z-10	TCGA-IA-A83W-11A-11D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b5bc3d4-904a-4ece-a4fb-4263014e4b39	da2fe768-0f46-492c-99cc-6b417fd4a40c	g.chr3:52677267T>C	ENST00000296302.7	-	9	993	c.992A>G	c.(991-993)tAc>tGc	p.Y331C	PBRM1_ENST00000410007.1_Missense_Mutation_p.Y331C|PBRM1_ENST00000409057.1_Missense_Mutation_p.Y331C|PBRM1_ENST00000409114.3_Missense_Mutation_p.Y331C|PBRM1_ENST00000337303.4_Missense_Mutation_p.Y331C|PBRM1_ENST00000356770.4_Intron|PBRM1_ENST00000394830.3_Missense_Mutation_p.Y331C|PBRM1_ENST00000409767.1_Missense_Mutation_p.Y331C			Q86U86	PB1_HUMAN	polybromo 1	331					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)		TTCTCACCGGTAATACTTGCT	0.443			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	0													170	161	164					3																	52677267		2203	4300	6503	SO:0001583	missense	55193			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.992A>G	chr3.hg19:g.52677267T>C	ENSP00000296302:p.Tyr331Cys		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	hg19		.	.	.	.	.	.	.	.	.	.	T	11.29	1.595409	0.28445	.	.	ENSG00000163939	ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	T;T;T;T;T;T;T;T;T	0.34472	1.37;1.41;1.36;1.37;1.36;1.83;1.37;1.37;1.37	5.14	5.14	0.70334	Bromodomain (1);	0.546082	0.18050	N	0.153309	T	0.21103	0.0508	N	0.08118	0	0.27045	N	0.96393	P;B;P;P;P;P;B;P	0.49447	0.456;0.282;0.456;0.456;0.924;0.456;0.0;0.456	B;B;B;B;B;B;B;B	0.43360	0.178;0.163;0.178;0.178;0.417;0.247;0.001;0.115	T	0.03957	-1.0989	10	0.38643	T	0.18	.	9.497	0.38995	0.1569:0.0:0.0:0.8431	.	331;331;331;331;331;331;331;331	Q86U86-9;Q86U86-6;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-5	.;.;.;.;.;.;PB1_HUMAN;.	C	331;331;331;331;331;331;331;331;275	ENSP00000378307:Y331C;ENSP00000296302:Y331C;ENSP00000338302:Y331C;ENSP00000386593:Y331C;ENSP00000386529:Y331C;ENSP00000386643:Y331C;ENSP00000386601:Y331C;ENSP00000387775:Y331C;ENSP00000397662:Y275C	ENSP00000296302:Y331C	Y	-	2	0	PBRM1	52652307	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.279000	0.43435	1.963000	0.57068	0.524000	0.50904	TAC		0.443	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		C	52677267	T	C	52677267	3	2	684	1	0	0	0	0	1	0	0	0	11493	1638	57	3	3996	3	PBRM1	3	52677267	Missense_Mutation	SNP	T	TCGA-IA-A83W-01A-11D-A34Z-10	15311910	52677267	145345163	11	37775											
ATP6V1A	523	hgsc.bcm.edu	37	3	113505219	113505219	+	Silent	SNP	T	T	C			TCGA-IA-A83W-01A-11D-A34Z-10	TCGA-IA-A83W-11A-11D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b5bc3d4-904a-4ece-a4fb-4263014e4b39	da2fe768-0f46-492c-99cc-6b417fd4a40c	g.chr3:113505219T>C	ENST00000273398.3	+	6	813	c.705T>C	c.(703-705)gaT>gaC	p.D235D	ATP6V1A_ENST00000538620.1_Silent_p.D202D	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	235					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)	GAGTCCTTGATGCCCTTTTTC	0.433																																																0													222	203	209					3																	113505219		2203	4300	6503	SO:0001819	synonymous_variant	523			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.705T>C	chr3.hg19:g.113505219T>C			B2RBR8|B7Z1R5|D3DN75|Q53YD9|Q96DY6|Q9UHY3	Silent	SNP	ENST00000273398.3	hg19	CCDS2976.1																																																																																				0.433	ATP6V1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354457.1	NM_001690		C	113505219	T	C	113505219	2	2	684	1	0	0	0	0	0	0	0	1	1177	1461	51	3		3	ATP6V1A	3	113505219	Silent	SNP	T	TCGA-IA-A83W-01A-11D-A34Z-10	60827952	113505219	84517211	12	37776											
MSL2	55167	hgsc.bcm.edu	37	3	135870914	135870914	+	Missense_Mutation	SNP	A	A	G			TCGA-IA-A83W-01A-11D-A34Z-10	TCGA-IA-A83W-11A-11D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b5bc3d4-904a-4ece-a4fb-4263014e4b39	da2fe768-0f46-492c-99cc-6b417fd4a40c	g.chr3:135870914A>G	ENST00000309993.2	-	2	1541	c.809T>C	c.(808-810)gTt>gCt	p.V270A	MSL2_ENST00000434835.2_Missense_Mutation_p.V196A	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	270					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						TACTTCCTCAACACTCAGTAA	0.443																																																0													62	68	66					3																	135870914		2203	4300	6503	SO:0001583	missense	55167			AK001408	CCDS33861.1, CCDS46922.1	3q22.2	2008-10-29	2008-10-29	2008-10-29	ENSG00000174579	ENSG00000174579		"RING-type (C3HC4) zinc fingers"	25544	protein-coding gene	gene with protein product	"male-specific lethal-2 homolog (Drosophila)"	614802	"ring finger protein 184", "male-specific lethal 2-like 1 (Drosophila)"	RNF184, MSL2L1		16227571, 16543150	Standard	NM_018133		Approved	FLJ10546, KIAA1585, msl-2	uc003eqx.1	Q9HCI7	OTTHUMG00000159793	ENST00000309993.2:c.809T>C	chr3.hg19:g.135870914A>G	ENSP00000311827:p.Val270Ala		B4DYL4|G5E9I1|Q0D2P1|Q8NDB4|Q9NVS4	Missense_Mutation	SNP	ENST00000309993.2	hg19	CCDS33861.1	.	.	.	.	.	.	.	.	.	.	A	16.96	3.266033	0.59540	.	.	ENSG00000174579	ENST00000309993;ENST00000434835	.	.	.	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000001	T	0.59662	0.2210	L	0.34521	1.04	0.58432	D	0.99999	D	0.60160	0.987	P	0.56088	0.791	T	0.53809	-0.8386	9	0.17832	T	0.49	-9.5412	16.0034	0.80327	1.0:0.0:0.0:0.0	.	270	Q9HCI7	MSL2_HUMAN	A	270;196	.	ENSP00000311827:V270A	V	-	2	0	MSL2	137353604	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.389000	0.90172	2.371000	0.80710	0.533000	0.62120	GTT		0.443	MSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357347.1	NM_018133		G	135870914	A	G	135870914	3	3	684	1	0	0	0	0	1	0	0	0	9880	43	2	3	928	3	MSL2	3	135870914	Missense_Mutation	SNP	A	TCGA-IA-A83W-01A-11D-A34Z-10	22365695	135870914	62151516	13	37777											
IFT80	57560	hgsc.bcm.edu	37	3	160018773	160018773	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IA-A83W-01A-11D-A34Z-10	TCGA-IA-A83W-11A-11D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b5bc3d4-904a-4ece-a4fb-4263014e4b39	da2fe768-0f46-492c-99cc-6b417fd4a40c	g.chr3:160018773delA	ENST00000326448.7	-	12	1645	c.1213delT	c.(1213-1215)tcafs	p.S406fs	IFT80_ENST00000496589.1_Frame_Shift_Del_p.S269fs|RP11-432B6.3_ENST00000483754.1_Frame_Shift_Del_p.S577fs|IFT80_ENST00000483465.1_Frame_Shift_Del_p.S269fs	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80	406					bone morphogenesis (GO:0060349)|chondrocyte differentiation (GO:0002062)|cilium assembly (GO:0042384)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|osteoblast differentiation (GO:0001649)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TTTGGAGATGAAATAAAGCGC	0.318																																																0													50	54	53					3																	160018773		2202	4292	6494	SO:0001589	frameshift_variant	57560			AB037795	CCDS3188.1, CCDS54668.1	3q25.33	2014-07-03	2014-07-03	2005-11-02	ENSG00000068885	ENSG00000068885		"Intraflagellar transport homologs", "WD repeat domain containing"	29262	protein-coding gene	gene with protein product		611177	"WD repeat domain 56", "intraflagellar transport 80 homolog (Chlamydomonas)"	WDR56		10718198	Standard	NM_020800		Approved	KIAA1374	uc021xgq.1	Q9P2H3	OTTHUMG00000158953	ENST00000326448.7:c.1213delT	chr3.hg19:g.160018773delA	ENSP00000312778:p.Ser406fs		B4E0K1|C9J8I0|Q3MJC4|Q86YF4|Q9UIX1	Frame_Shift_Del	DEL	ENST00000326448.7	hg19	CCDS3188.1																																																																																				0.318	IFT80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352651.2	NM_020800		-	160018773	A	-	160018773	7	5	684	1	0	1	0	1	0	0	0	0	7566	246	9	0	1156	0	IFT80	3	160018773	Frame_Shift_Del	DEL	A	TCGA-IA-A83W-01A-11D-A34Z-10	24147859	160018773	38003657	14	37778											
OPA1	4976	hgsc.bcm.edu	37	3	193335033	193335033	+	Missense_Mutation	SNP	T	T	C			TCGA-IA-A83W-01A-11D-A34Z-10	TCGA-IA-A83W-11A-11D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b5bc3d4-904a-4ece-a4fb-4263014e4b39	da2fe768-0f46-492c-99cc-6b417fd4a40c	g.chr3:193335033T>C	ENST00000392438.3	+	4	749	c.515T>C	c.(514-516)aTt>aCt	p.I172T	OPA1-AS1_ENST00000444085.1_RNA|OPA1_ENST00000361715.2_Intron|OPA1_ENST00000361150.2_Intron|OPA1_ENST00000361510.2_Missense_Mutation_p.I172T|OPA1-AS1_ENST00000433105.1_RNA|OPA1_ENST00000487986.1_3'UTR|OPA1_ENST00000361828.2_Missense_Mutation_p.I172T|OPA1_ENST00000361908.3_Missense_Mutation_p.I172T	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	172					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)		TTTGACAAGATTGTTGAAAGC	0.333																																																0													63	67	66					3																	193335033		2202	4296	6498	SO:0001583	missense	4976			AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"mitochondrial dynamin-like GTPase", "dynamin-like guanosine triphosphatase", "Dynamin-like 120 kDa protein, mitochondrial"	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.515T>C	chr3.hg19:g.193335033T>C	ENSP00000376233:p.Ile172Thr		D3DNW4	Missense_Mutation	SNP	ENST00000392438.3	hg19	CCDS43186.1	.	.	.	.	.	.	.	.	.	.	T	17.09	3.300951	0.60195	.	.	ENSG00000198836	ENST00000361908;ENST00000392438;ENST00000361510;ENST00000361828;ENST00000419435;ENST00000392436	D;D;D;D;T;T	0.94897	-3.25;-3.35;-3.55;-3.15;1.49;-1.36	5.86	5.86	0.93980	.	0.115123	0.64402	D	0.000016	D	0.91250	0.7242	L	0.43152	1.355	0.80722	D	1	B;B;B;B	0.28552	0.079;0.181;0.0;0.215	B;B;B;B	0.26517	0.07;0.068;0.001;0.064	D	0.88625	0.3165	10	0.23302	T	0.38	-14.9597	15.4463	0.75232	0.0:0.0:0.0:1.0	.	172;172;172;172	O60313;E5KLJ6;E5KLJ7;E5KLJ5	OPA1_HUMAN;.;.;.	T	172;172;172;172;48;172	ENSP00000354681:I172T;ENSP00000376233:I172T;ENSP00000355324:I172T;ENSP00000354429:I172T;ENSP00000399877:I48T;ENSP00000376231:I172T	ENSP00000355324:I172T	I	+	2	0	OPA1	194817727	1.000000	0.71417	0.991000	0.47740	0.997000	0.91878	6.940000	0.75917	2.241000	0.73720	0.528000	0.53228	ATT		0.333	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313812.2	NM_130837		C	193335033	T	C	193335033	3	2	684	1	0	0	0	0	1	0	0	0	10873	1493	52	3	529	3	OPA1	3	193335033	Missense_Mutation	SNP	T	TCGA-IA-A83W-01A-11D-A34Z-10	33316260	193335033	4687397	15	37779											
POU5F2	134187	hgsc.bcm.edu	37	5	93077053	93077053	+	Missense_Mutation	SNP	G	G	A			TCGA-IA-A83W-01A-11D-A34Z-10	TCGA-IA-A83W-11A-11D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b5bc3d4-904a-4ece-a4fb-4263014e4b39	da2fe768-0f46-492c-99cc-6b417fd4a40c	g.chr5:93077053G>A	ENST00000510627.4	-	1	290	c.217C>T	c.(217-219)Cgg>Tgg	p.R73W	FAM172A_ENST00000509163.1_Intron|POU5F2_ENST00000606183.1_5'Flank|RP11-185E12.2_ENST00000606528.1_RNA|FAM172A_ENST00000509739.1_Intron|FAM172A_ENST00000395965.3_Intron|FAM172A_ENST00000505869.1_Intron	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	73					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-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;0.0415)|all cancers(79;2.03e-19)		ATCCAGCCCCGGAATTCGTGT	0.692																																																0													15	18	17					5																	93077053		1888	4105	5993	SO:0001583	missense	134187				CCDS59489.1	5q15	2011-06-20				ENSG00000248483		"Homeoboxes / POU class"	26367	protein-coding gene	gene with protein product						7908264	Standard	NM_153216		Approved	SPRM-1, FLJ25680	uc003kkl.1	Q8N7G0		ENST00000510627.4:c.217C>T	chr5.hg19:g.93077053G>A	ENSP00000464890:p.Arg73Trp		Q15169|Q6MZL7|Q8N748	Missense_Mutation	SNP	ENST00000510627.4	hg19	CCDS59489.1																																																																																				0.692	POU5F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369873.5	NM_153216		A	93077053	G	A	93077053	3	1	684	1	0	0	0	0	1	0	0	0	12285	1115	39	1	773	1	POU5F2	5	93077053	Missense_Mutation	SNP	G	TCGA-IA-A83W-01A-11D-A34Z-10		93077053	87838207	16	37780											
FAM153B	202134	hgsc.bcm.edu	37	5	175530235	175530235	+	Missense_Mutation	SNP	A	A	T			TCGA-IA-A83W-01A-11D-A34Z-10	TCGA-IA-A83W-11A-11D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b5bc3d4-904a-4ece-a4fb-4263014e4b39	da2fe768-0f46-492c-99cc-6b417fd4a40c	g.chr5:175530235A>T	ENST00000253490.4	+	13	727	c.670A>T	c.(670-672)Atc>Ttc	p.I224F	FAM153B_ENST00000510151.1_Missense_Mutation_p.I147F|FAM153B_ENST00000512862.1_Intron|FAM153B_ENST00000515817.1_Missense_Mutation_p.I147F			P0C7A2	F153B_HUMAN	family with sequence similarity 153, member B	224										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)		CCTAGTTCTGATCAGGGATGT	0.507																																																0													165	174	171					5																	175530235		2203	4300	6503	SO:0001583	missense	202134			AK055006	CCDS43401.1, CCDS43401.2	5q35.2	2010-05-12			ENSG00000182230	ENSG00000182230			27323	protein-coding gene	gene with protein product							Standard	NM_001265615		Approved		uc031smb.1	P0C7A2	OTTHUMG00000163181	ENST00000253490.4:c.670A>T	chr5.hg19:g.175530235A>T	ENSP00000253490:p.Ile224Phe		A8MTI1	Missense_Mutation	SNP	ENST00000253490.4	hg19		.	.	.	.	.	.	.	.	.	.	A	9.135	1.012435	0.19277	.	.	ENSG00000182230	ENST00000515817;ENST00000253490	.	.	.	1.26	-2.53	0.06326	.	.	.	.	.	T	0.08714	0.0216	N	0.08118	0	0.09310	N	1	P	0.46020	0.871	B	0.31245	0.126	T	0.21827	-1.0234	8	0.87932	D	0	.	5.9593	0.19291	0.3919:0.6081:0.0:0.0	.	224	P0C7A2	F153B_HUMAN	F	147;224	.	ENSP00000253490:I224F	I	+	1	0	FAM153B	175462841	0.002000	0.14202	0.000000	0.03702	0.005000	0.04900	0.742000	0.26216	-0.649000	0.05430	0.145000	0.16022	ATC		0.507	FAM153B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001079529		T	175530235	A	T	175530235	3	4	684	1	0	0	0	0	1	0	0	0	5463	333	12	5	720	5	FAM153B	5	175530235	Missense_Mutation	SNP	A	TCGA-IA-A83W-01A-11D-A34Z-10	82453182	175530235	5385025	17	37781											
JARID2	3720	hgsc.bcm.edu	37	6	15513599	15513599	+	Silent	SNP	G	G	A			TCGA-IA-A83W-01A-11D-A34Z-10	TCGA-IA-A83W-11A-11D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b5bc3d4-904a-4ece-a4fb-4263014e4b39	da2fe768-0f46-492c-99cc-6b417fd4a40c	g.chr6:15513599G>A	ENST00000341776.2	+	16	3640	c.3396G>A	c.(3394-3396)ttG>ttA	p.L1132L	JARID2_ENST00000397311.3_Silent_p.L960L	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	1132					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)				GGCTGCAGTTGGAGACGTCAG	0.637																																																0													66	59	61					6																	15513599		2203	4300	6503	SO:0001819	synonymous_variant	3720			U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"jumonji (mouse) homolog", "Jumonji, AT rich interactive domain 2"	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.3396G>A	chr6.hg19:g.15513599G>A			A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Silent	SNP	ENST00000341776.2	hg19	CCDS4533.1																																																																																				0.637	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	NM_004973		A	15513599	G	A	15513599	2	1	684	1	0	0	0	0	0	0	0	1	7947	1339	47	2		2	JARID2	6	15513599	Silent	SNP	G	TCGA-IA-A83W-01A-11D-A34Z-10		15513599	155601468	18	37782											
CCND3	896	hgsc.bcm.edu	37	6	41908179	41908179	+	Missense_Mutation	SNP	C	C	G			TCGA-IA-A83W-01A-11D-A34Z-10	TCGA-IA-A83W-11A-11D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b5bc3d4-904a-4ece-a4fb-4263014e4b39	da2fe768-0f46-492c-99cc-6b417fd4a40c	g.chr6:41908179C>G	ENST00000372991.4	-	2	541	c.343G>C	c.(343-345)Gag>Cag	p.E115Q	CCND3_ENST00000511686.1_Intron|CCND3_ENST00000511642.1_Missense_Mutation_p.E34Q|CCND3_ENST00000372987.4_Missense_Mutation_p.E65Q|CCND3_ENST00000372988.4_Missense_Mutation_p.E34Q|CCND3_ENST00000414200.2_Intron|CCND3_ENST00000510503.1_Missense_Mutation_p.E34Q|CCND3_ENST00000415497.2_Intron	NM_001760.3	NP_001751.1	P30281	CCND3_HUMAN	cyclin D3	115	Cyclin N-terminal.				cell cycle (GO:0007049)|cell division (GO:0051301)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of protein phosphorylation (GO:0001934)|signal transduction (GO:0007165)|T cell proliferation (GO:0042098)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase binding (GO:0019901)			endometrium(2)|haematopoietic_and_lymphoid_tissue(13)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	20	Colorectal(47;0.121)		Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGCGTGGTCTCGCGCAGCTTG	0.632			T	IGH@	MM																																		Dom	yes		6	6p21	896	cyclin D3		L	0													110	103	105					6																	41908179		2203	4300	6503	SO:0001583	missense	896				CCDS4863.1, CCDS47425.1, CCDS47426.1, CCDS47427.1, CCDS75452.1	6p21	2008-08-26			ENSG00000112576	ENSG00000112576			1585	protein-coding gene	gene with protein product		123834				1386335	Standard	NM_001136125		Approved		uc003orn.3	P30281	OTTHUMG00000014690	ENST00000372991.4:c.343G>C	chr6.hg19:g.41908179C>G	ENSP00000362082:p.Glu115Gln		B2RD63|B3KQ22|E9PAS4|E9PB36|Q5T8J0|Q6FG62|Q96F49	Missense_Mutation	SNP	ENST00000372991.4	hg19	CCDS4863.1	.	.	.	.	.	.	.	.	.	.	c	31	5.074437	0.94000	.	.	ENSG00000112576	ENST00000372991;ENST00000511642;ENST00000372987;ENST00000372988;ENST00000510503;ENST00000505064;ENST00000502771	T;T;T;T;T;T;T	0.20598	2.06;2.06;2.06;2.06;2.06;2.06;2.06	4.26	4.26	0.50523	Cyclin, N-terminal (1);Cyclin-like (3);	0.115517	0.37761	N	0.001951	T	0.48241	0.1489	M	0.92219	3.285	0.58432	D	0.999999	D;D;D	0.69078	0.971;0.995;0.997	P;D;D	0.69654	0.856;0.931;0.965	T	0.64214	-0.6460	10	0.87932	D	0	.	16.4266	0.83816	0.0:1.0:0.0:0.0	.	34;115;65	B4E0N5;P30281;Q5T8J1	.;CCND3_HUMAN;.	Q	115;34;65;34;34;34;34	ENSP00000362082:E115Q;ENSP00000426212:E34Q;ENSP00000362078:E65Q;ENSP00000362079:E34Q;ENSP00000425986:E34Q;ENSP00000425830:E34Q;ENSP00000425334:E34Q	ENSP00000362078:E65Q	E	-	1	0	CCND3	42016157	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	7.604000	0.82830	2.199000	0.70637	0.462000	0.41574	GAG		0.632	CCND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040540.2	NM_001760		G	41908179	C	G	41908179	3	3	684	1	0	0	0	0	1	0	0	0	2920	893	31	4	551	4	CCND3	6	41908179	Missense_Mutation	SNP	C	TCGA-IA-A83W-01A-11D-A34Z-10	26394580	41908179	129206888	19	37783											
GCM1	8521	hgsc.bcm.edu	37	6	52993306	52993306	+	Missense_Mutation	SNP	A	A	G			TCGA-IA-A83W-01A-11D-A34Z-10	TCGA-IA-A83W-11A-11D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b5bc3d4-904a-4ece-a4fb-4263014e4b39	da2fe768-0f46-492c-99cc-6b417fd4a40c	g.chr6:52993306A>G	ENST00000259803.7	-	6	1220	c.1009T>C	c.(1009-1011)Ttt>Ctt	p.F337L	RP11-506E9.3_ENST00000566420.1_RNA	NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	337					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)					TGCTGGTAAAAGGGTTCTGAA	0.473																																																0													67	73	71					6																	52993306		2203	4300	6503	SO:0001583	missense	8521			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.1009T>C	chr6.hg19:g.52993306A>G	ENSP00000259803:p.Phe337Leu		Q4VAQ7|Q5T0X0|Q99468|Q9P1X3	Missense_Mutation	SNP	ENST00000259803.7	hg19	CCDS4950.1	.	.	.	.	.	.	.	.	.	.	A	7.813	0.716023	0.15306	.	.	ENSG00000137270	ENST00000259803	T	0.72505	-0.66	5.73	-1.06	0.10002	.	1.093520	0.06892	N	0.804337	T	0.21022	0.0506	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.07635	-1.0762	10	0.10902	T	0.67	-22.1899	2.5637	0.04778	0.2555:0.1237:0.0831:0.5377	.	337	Q9NP62	GCM1_HUMAN	L	337	ENSP00000259803:F337L	ENSP00000259803:F337L	F	-	1	0	GCM1	53101265	0.017000	0.18338	0.001000	0.08648	0.964000	0.63967	0.200000	0.17257	0.085000	0.17107	0.482000	0.46254	TTT		0.473	GCM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040953.1			G	52993306	A	G	52993306	3	3	684	1	0	0	0	0	1	0	0	0	6299	72	3	3	305	3	GCM1	6	52993306	Missense_Mutation	SNP	A	TCGA-IA-A83W-01A-11D-A34Z-10	11085127	52993306	118121761	20	37784											
KLHL31	401265	hgsc.bcm.edu	37	6	53516723	53516723	+	Silent	SNP	G	G	A			TCGA-IA-A83W-01A-11D-A34Z-10	TCGA-IA-A83W-11A-11D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b5bc3d4-904a-4ece-a4fb-4263014e4b39	da2fe768-0f46-492c-99cc-6b417fd4a40c	g.chr6:53516723G>A	ENST00000407079.1	-	2	1577	c.1578C>T	c.(1576-1578)cgC>cgT	p.R526R	KLHL31_ENST00000370905.3_Silent_p.R526R			Q9H511	KLH31_HUMAN	kelch-like family member 31	526					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					CGCGCTCCCCGCGCGGCCCCA	0.731																																																0													6	7	7					6																	53516723		2131	4169	6300	SO:0001819	synonymous_variant	401265				CCDS34478.1	6p12.1	2013-09-27	2013-02-22	2007-01-09	ENSG00000124743	ENSG00000124743		"Kelch-like", "BTB/POZ domain containing"	21353	protein-coding gene	gene with protein product		610749	"kelch repeat and BTB (POZ) domain containing 1", "kelch-like 31 (Drosophila)"	KBTBD1			Standard	NM_001003760		Approved	bA345L23.2, BKLHD6	uc003pcb.4	Q9H511	OTTHUMG00000014882	ENST00000407079.1:c.1578C>T	chr6.hg19:g.53516723G>A			A6N9J2|B2RP49	Silent	SNP	ENST00000407079.1	hg19	CCDS34478.1																																																																																				0.731	KLHL31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040965.1	NM_001003760		A	53516723	G	A	53516723	2	1	684	1	0	0	0	0	0	0	0	1	8387	1074	38	1		1	KLHL31	6	53516723	Silent	SNP	G	TCGA-IA-A83W-01A-11D-A34Z-10	523417	53516723	117598344	21	37785											
GJC3	349149	hgsc.bcm.edu	37	7	99527002	99527002	+	Missense_Mutation	SNP	A	A	G			TCGA-IA-A83W-01A-11D-A34Z-10	TCGA-IA-A83W-11A-11D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b5bc3d4-904a-4ece-a4fb-4263014e4b39	da2fe768-0f46-492c-99cc-6b417fd4a40c	g.chr7:99527002A>G	ENST00000312891.2	-	1	241	c.242T>C	c.(241-243)gTc>gCc	p.V81A	RP4-604G5.1_ENST00000456499.1_RNA	NM_181538.2	NP_853516.1	Q8NFK1	CXG3_HUMAN	gap junction protein, gamma 3, 30.2kDa	81					cell communication (GO:0007154)|myelination (GO:0042552)|sensory perception of sound (GO:0007605)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					CACCAAGATGACCTGGAAGAC	0.577																																																0													98	102	101					7																	99527002		2203	4300	6503	SO:0001583	missense	349149			AF503615	CCDS34697.1	7q22.1	2008-09-04	2007-11-06	2007-11-06	ENSG00000176402	ENSG00000176402		"Ion channels / Gap junction proteins (connexins)"	17495	protein-coding gene	gene with protein product	"connexin 30.2"	611925	"gap junction protein, epsilon 1, 29kDa"	GJE1			Standard	NM_181538		Approved	CX30.2	uc011kjd.2	Q8NFK1	OTTHUMG00000156649	ENST00000312891.2:c.242T>C	chr7.hg19:g.99527002A>G	ENSP00000325775:p.Val81Ala		A4D296|Q86XI9	Missense_Mutation	SNP	ENST00000312891.2	hg19	CCDS34697.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.143140	0.77888	.	.	ENSG00000176402	ENST00000312891	D	0.99186	-5.53	4.73	4.73	0.59995	Connexin, N-terminal (1);	0.366774	0.19830	N	0.105106	D	0.98601	0.9532	M	0.76574	2.34	0.41351	D	0.987367	D	0.56746	0.977	P	0.51453	0.67	D	0.99204	1.0874	10	0.87932	D	0	.	12.5098	0.56000	1.0:0.0:0.0:0.0	.	81	Q8NFK1	CXG3_HUMAN	A	81	ENSP00000325775:V81A	ENSP00000325775:V81A	V	-	2	0	GJC3	99364938	1.000000	0.71417	0.973000	0.42090	0.714000	0.41099	7.017000	0.76399	2.128000	0.65567	0.533000	0.62120	GTC		0.577	GJC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345052.1	NM_181538		G	99527002	A	G	99527002	3	3	684	1	0	0	0	0	1	0	0	0	6418	275	10	3	605	3	GJC3	7	99527002	Missense_Mutation	SNP	A	TCGA-IA-A83W-01A-11D-A34Z-10		99527002	59611661	22	37786											
MET	4233	hgsc.bcm.edu	37	7	116423474	116423474	+	Missense_Mutation	SNP	T	T	C	rs121913245		TCGA-IA-A83W-01A-11D-A34Z-10	TCGA-IA-A83W-11A-11D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b5bc3d4-904a-4ece-a4fb-4263014e4b39	da2fe768-0f46-492c-99cc-6b417fd4a40c	g.chr7:116423474T>C	ENST00000318493.6	+	19	3990	c.3803T>C	c.(3802-3804)aTg>aCg	p.M1268T	MET_ENST00000539704.1_Missense_Mutation_p.M120T|MET_ENST00000397752.3_Missense_Mutation_p.M1250T			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)	p.M1268T(4)		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)			GTGAAGTGGATGGCTTTGGAA	0.393			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																														Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	4	Substitution - Missense(4)	kidney(4)	GRCh37	CM992181	MET	M	rs121913245						93	92	92					7																	116423474		1872	4102	5974	SO:0001583	missense	4233	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	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.3803T>C	chr7.hg19:g.116423474T>C	ENSP00000317272:p.Met1268Thr		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	hg19	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	T	18.99	3.740165	0.69304	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000539704	T;T;T	0.37752	1.18;1.18;1.18	5.68	5.68	0.88126	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	T	0.61714	0.2369	M	0.75264	2.295	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.97110	1.0;1.0	T	0.65734	-0.6096	10	0.87932	D	0	.	16.2225	0.82267	0.0:0.0:0.0:1.0	.	1268;1250	P08581-2;P08581	.;MET_HUMAN	T	1250;1268;120	ENSP00000380860:M1250T;ENSP00000317272:M1268T;ENSP00000445020:M120T	ENSP00000317272:M1268T	M	+	2	0	MET	116210710	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.997000	0.88414	2.289000	0.77006	0.460000	0.39030	ATG		0.393	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			C	116423474	T	C	116423474	3	2	684	1	0	0	0	0	1	0	0	0	9487	1464	51	3	3873	3	MET	7	116423474	Missense_Mutation	SNP	T	TCGA-IA-A83W-01A-11D-A34Z-10	16896472	116423474	42715189	23	37787											
PPP2R2A	5520	hgsc.bcm.edu	37	8	26220333	26220333	+	Silent	SNP	G	G	A			TCGA-IA-A83W-01A-11D-A34Z-10	TCGA-IA-A83W-11A-11D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b5bc3d4-904a-4ece-a4fb-4263014e4b39	da2fe768-0f46-492c-99cc-6b417fd4a40c	g.chr8:26220333G>A	ENST00000380737.3	+	7	1100	c.771G>A	c.(769-771)agG>agA	p.R257R	PPP2R2A_ENST00000315985.7_Silent_p.R267R	NM_002717.3	NP_002708.1	P63151	2ABA_HUMAN	protein phosphatase 2, regulatory subunit B, alpha	257					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)		GTGACATGAGGGCATCTGCCC	0.373																																																0													82	75	77					8																	26220333		2203	4300	6503	SO:0001819	synonymous_variant	5520			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.771G>A	chr8.hg19:g.26220333G>A			B2RBU8|B4E1T7|P50409|Q00007	Silent	SNP	ENST00000380737.3	hg19	CCDS34867.1																																																																																				0.373	PPP2R2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375954.2	NM_002717		A	26220333	G	A	26220333	2	1	684	1	0	0	0	0	0	0	0	1	12389	1223	43	2		2	PPP2R2A	8	26220333	Silent	SNP	G	TCGA-IA-A83W-01A-11D-A34Z-10		26220333	120143689	24	37788											
PRDM14	63978	hgsc.bcm.edu	37	8	70964477	70964477	+	Missense_Mutation	SNP	G	G	T			TCGA-IA-A83W-01A-11D-A34Z-10	TCGA-IA-A83W-11A-11D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b5bc3d4-904a-4ece-a4fb-4263014e4b39	da2fe768-0f46-492c-99cc-6b417fd4a40c	g.chr8:70964477G>T	ENST00000276594.2	-	8	1752	c.1551C>A	c.(1549-1551)ttC>ttA	p.F517L		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	517					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)			ACTTGCATTTGAAGGGCTTCT	0.507																																					NSCLC(129;99 1813 5906 40656 46114)											0													153	143	146					8																	70964477		2203	4300	6503	SO:0001583	missense	63978			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.1551C>A	chr8.hg19:g.70964477G>T	ENSP00000276594:p.Phe517Leu		Q86UX9	Missense_Mutation	SNP	ENST00000276594.2	hg19	CCDS6206.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.477602	0.84640	.	.	ENSG00000147596	ENST00000276594	T	0.21932	1.98	6.08	4.3	0.51218	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.38983	0.1061	L	0.61387	1.9	0.58432	D	0.999998	D	0.67145	0.996	D	0.65443	0.935	T	0.17776	-1.0358	10	0.56958	D	0.05	-32.8024	10.6211	0.45481	0.2001:0.0:0.7999:0.0	.	517	Q9GZV8	PRD14_HUMAN	L	517	ENSP00000276594:F517L	ENSP00000276594:F517L	F	-	3	2	PRDM14	71127031	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.692000	0.54727	1.590000	0.49995	0.655000	0.94253	TTC		0.507	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318505.1			T	70964477	G	T	70964477	3	4	684	1	0	0	0	0	1	0	0	0	12460	1281	45	4	168	4	PRDM14	8	70964477	Missense_Mutation	SNP	G	TCGA-IA-A83W-01A-11D-A34Z-10	44744144	70964477	75399545	25	37789											
KANK1	23189	hgsc.bcm.edu	37	9	744586	744586	+	Silent	SNP	T	T	G			TCGA-IA-A83W-01A-11D-A34Z-10	TCGA-IA-A83W-11A-11D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b5bc3d4-904a-4ece-a4fb-4263014e4b39	da2fe768-0f46-492c-99cc-6b417fd4a40c	g.chr9:744586T>G	ENST00000382303.1	+	15	4645	c.3993T>G	c.(3991-3993)tcT>tcG	p.S1331S	KANK1_ENST00000382293.3_Silent_p.S1173S|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Silent_p.S1331S	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1331					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)		AAGCCCAGTCTCCGGTCAGTG	0.498																																																0													139	116	124					9																	744586		2203	4300	6503	SO:0001819	synonymous_variant	23189			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.3993T>G	chr9.hg19:g.744586T>G			A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Silent	SNP	ENST00000382303.1	hg19	CCDS34976.1																																																																																				0.498	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158		G	744586	T	G	744586	2	3	684	1	0	0	0	0	0	0	0	1	7978	1538	54	5		5	KANK1	9	744586	Silent	SNP	T	TCGA-IA-A83W-01A-11D-A34Z-10		744586	140468845	26	37790											
TESK1	7016	hgsc.bcm.edu	37	9	35605737	35605737	+	Missense_Mutation	SNP	T	T	A			TCGA-IA-A83W-01A-11D-A34Z-10	TCGA-IA-A83W-11A-11D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b5bc3d4-904a-4ece-a4fb-4263014e4b39	da2fe768-0f46-492c-99cc-6b417fd4a40c	g.chr9:35605737T>A	ENST00000336395.5	+	1	371	c.121T>A	c.(121-123)Tac>Aac	p.Y41N	MIR4667_ENST00000578933.1_RNA|TESK1_ENST00000498522.1_3'UTR	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	testis-specific kinase 1	41					cell junction assembly (GO:0034329)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ccccTCCTCCTACCGGGCTCT	0.751																																																0													6	6	6					9																	35605737		2011	4058	6069	SO:0001583	missense	7016			D50863	CCDS6580.1	9p13	2010-04-27			ENSG00000107140	ENSG00000107140	2.7.12.1		11731	protein-coding gene	gene with protein product	"testis-specific kinase-1", "testis specific kinase-1"	601782				8537404	Standard	NM_006285		Approved		uc003zxa.3	Q15569	OTTHUMG00000019863	ENST00000336395.5:c.121T>A	chr9.hg19:g.35605737T>A	ENSP00000338127:p.Tyr41Asn		Q8IXZ8	Missense_Mutation	SNP	ENST00000336395.5	hg19	CCDS6580.1	.	.	.	.	.	.	.	.	.	.	T	19.96	3.923903	0.73213	.	.	ENSG00000107140	ENST00000336395	T	0.76578	-1.03	4.01	2.75	0.32379	Protein kinase-like domain (1);	0.000000	0.33691	N	0.004652	T	0.71626	0.3362	N	0.08118	0	0.45704	D	0.998617	D	0.64830	0.994	D	0.66602	0.945	T	0.74630	-0.3601	10	0.87932	D	0	-8.0246	8.4095	0.32636	0.0:0.0:0.1975:0.8025	.	41	Q15569	TESK1_HUMAN	N	41	ENSP00000338127:Y41N	ENSP00000338127:Y41N	Y	+	1	0	TESK1	35595737	1.000000	0.71417	1.000000	0.80357	0.678000	0.39670	3.246000	0.51414	1.581000	0.49865	0.448000	0.29417	TAC		0.751	TESK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052314.1	NM_006285		A	35605737	T	A	35605737	3	1	684	1	0	0	0	0	1	0	0	0	15772	1522	53	5	123	5	TESK1	9	35605737	Missense_Mutation	SNP	T	TCGA-IA-A83W-01A-11D-A34Z-10	34861151	35605737	105607694	27	37791											
FAM53B	9679	hgsc.bcm.edu	37	10	126384767	126384767	+	Silent	SNP	C	C	T			TCGA-IA-A83W-01A-11D-A34Z-10	TCGA-IA-A83W-11A-11D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b5bc3d4-904a-4ece-a4fb-4263014e4b39	da2fe768-0f46-492c-99cc-6b417fd4a40c	g.chr10:126384767C>T	ENST00000337318.3	-	3	304	c.93G>A	c.(91-93)aaG>aaA	p.K31K	FAM53B_ENST00000280780.6_Silent_p.K31K|RP11-12J10.3_ENST00000494792.1_3'UTR|FAM53B_ENST00000392754.3_Silent_p.K31K	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	31								p.K31N(1)		cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		CTTGACTCATCTTCTTTGGCG	0.448																																																1	Substitution - Missense(1)	cervix(1)											224	211	215					10																	126384767		2203	4300	6503	SO:0001819	synonymous_variant	9679			D50930	CCDS7641.1	10q26.13	2004-11-24	2004-11-24	2004-11-24	ENSG00000189319	ENSG00000189319			28968	protein-coding gene	gene with protein product			"KIAA0140"	KIAA0140		8590280	Standard	NM_014661		Approved	bA12J10.2	uc001lhv.1	Q14153	OTTHUMG00000019215	ENST00000337318.3:c.93G>A	chr10.hg19:g.126384767C>T			D3DRF1|Q5VUW1|Q5VUW2|Q8N5S6	Silent	SNP	ENST00000337318.3	hg19	CCDS7641.1																																																																																				0.448	FAM53B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050879.1	NM_014661		T	126384767	C	T	126384767	2	4	684	1	0	0	0	0	0	0	0	1	5582	912	32	2		2	FAM53B	10	126384767	Silent	SNP	C	TCGA-IA-A83W-01A-11D-A34Z-10		126384767	9149980	28	37792											
OSBPL5	114879	hgsc.bcm.edu	37	11	3114204	3114204	+	Silent	SNP	C	C	T			TCGA-IA-A83W-01A-11D-A34Z-10	TCGA-IA-A83W-11A-11D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b5bc3d4-904a-4ece-a4fb-4263014e4b39	da2fe768-0f46-492c-99cc-6b417fd4a40c	g.chr11:3114204C>T	ENST00000263650.7	-	18	2184	c.2025G>A	c.(2023-2025)gaG>gaA	p.E675E	OSBPL5_ENST00000348039.5_Silent_p.E607E|OSBPL5_ENST00000478260.1_Silent_p.E129E|OSBPL5_ENST00000389989.3_Silent_p.E607E|OSBPL5_ENST00000525498.1_Silent_p.E586E|OSBPL5_ENST00000542243.1_Silent_p.E306E	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	675					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)		GCCGCTGTGCCTCCTCCAGTG	0.662																																																0													49	38	42					11																	3114204		2200	4293	6493	SO:0001819	synonymous_variant	114879			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.2025G>A	chr11.hg19:g.3114204C>T			A6NDP0|A6NJS8|Q54A90|Q8N596|Q9BZB0|Q9P1Z4	Silent	SNP	ENST00000263650.7	hg19	CCDS31344.1																																																																																				0.662	OSBPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032332.2			T	3114204	C	T	3114204	2	4	684	1	0	0	0	0	0	0	0	1	11282	680	24	2		2	OSBPL5	11	3114204	Silent	SNP	C	TCGA-IA-A83W-01A-11D-A34Z-10		3114204	131892312	29	37793											
GUCY1A2	2977	hgsc.bcm.edu	37	11	106810476	106810476	+	Missense_Mutation	SNP	G	G	A			TCGA-IA-A83W-01A-11D-A34Z-10	TCGA-IA-A83W-11A-11D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b5bc3d4-904a-4ece-a4fb-4263014e4b39	da2fe768-0f46-492c-99cc-6b417fd4a40c	g.chr11:106810476G>A	ENST00000526355.2	-	4	1384	c.916C>T	c.(916-918)Cca>Tca	p.P306S	GUCY1A2_ENST00000347596.2_Missense_Mutation_p.P306S|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.P306S	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	306					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)	GTTCCCTGTGGAAGGTTCTTC	0.423																																																0													79	76	77					11																	106810476		2201	4298	6499	SO:0001583	missense	2977			X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.916C>T	chr11.hg19:g.106810476G>A	ENSP00000431245:p.Pro306Ser		A1L4C4|B7ZLT5	Missense_Mutation	SNP	ENST00000526355.2	hg19	CCDS8335.1	.	.	.	.	.	.	.	.	.	.	G	4.058	0.008459	0.07912	.	.	ENSG00000152402	ENST00000526355;ENST00000282249;ENST00000347596	D;D;D	0.86627	-1.82;-2.15;-1.82	5.77	2.74	0.32292	.	0.000000	0.44902	U	0.000408	T	0.77558	0.4148	L	0.27053	0.805	0.44067	D	0.99681	B;B;B	0.30763	0.038;0.007;0.294	B;B;B	0.24974	0.009;0.016;0.057	T	0.67868	-0.5559	10	0.13853	T	0.58	.	16.0098	0.80391	0.0:0.382:0.618:0.0	.	306;306;306	B7ZLT5;P33402-2;P33402	.;.;GCYA2_HUMAN	S	306	ENSP00000431245:P306S;ENSP00000282249:P306S;ENSP00000344874:P306S	ENSP00000282249:P306S	P	-	1	0	GUCY1A2	106315686	1.000000	0.71417	0.174000	0.22961	0.028000	0.11728	2.943000	0.49026	0.300000	0.22699	-0.282000	0.10007	CCA		0.423	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389003.2			A	106810476	G	A	106810476	3	1	684	1	0	0	0	0	1	0	0	0	6895	1174	41	2	1302	2	GUCY1A2	11	106810476	Missense_Mutation	SNP	G	TCGA-IA-A83W-01A-11D-A34Z-10	103696272	106810476	28196040	30	37794											
OR8B2	26595	hgsc.bcm.edu	37	11	124252506	124252516	+	Frame_Shift_Del	DEL	ACATGAGAGCT	ACATGAGAGCT	-	rs370946771		TCGA-IA-A83W-01A-11D-A34Z-10	TCGA-IA-A83W-11A-11D-A34Z-10	ACATGAGAGCT	ACATGAGAGCT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b5bc3d4-904a-4ece-a4fb-4263014e4b39	da2fe768-0f46-492c-99cc-6b417fd4a40c	g.chr11:124252506_124252516delACATGAGAGCT	ENST00000375013.2	-	1	742_752	c.724_734delAGCTCTCATGT	c.(724-735)agctctcatgtcfs	p.SSHV242fs		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	242						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		CAGAGCAATGACATGAGAGCTACAAGTACTG	0.384																																																0																																										SO:0001589	frameshift_variant	26595			AB065826	CCDS31708.1	11q24.1	2012-08-09			ENSG00000204293	ENSG00000204293		"GPCR / Class A : Olfactory receptors"	8471	protein-coding gene	gene with protein product							Standard	XM_005271500		Approved		uc010sai.2	Q96RD0	OTTHUMG00000165982	ENST00000375013.2:c.724_734delAGCTCTCATGT	chr11.hg19:g.124252506_124252516delACATGAGAGCT	ENSP00000364152:p.Ser242fs		Q8NGH2	Frame_Shift_Del	DEL	ENST00000375013.2	hg19	CCDS31708.1																																																																																				0.384	OR8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387290.1	NM_001005468		-	124252516	ACATGAGAGCT	-	124252506	7	5	684	1	0	1	0	1	0	0	0	0	11229	275	10	0	210	0	OR8B2	11	124252506	Frame_Shift_Del	DEL	ACATGAGAGCT	TCGA-IA-A83W-01A-11D-A34Z-10	17442030	124252506	10754010	31	37795											
TBRG1	84897	hgsc.bcm.edu	37	11	124494840	124494840	+	Missense_Mutation	SNP	T	T	C			TCGA-IA-A83W-01A-11D-A34Z-10	TCGA-IA-A83W-11A-11D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b5bc3d4-904a-4ece-a4fb-4263014e4b39	da2fe768-0f46-492c-99cc-6b417fd4a40c	g.chr11:124494840T>C	ENST00000441174.3	+	2	368	c.164T>C	c.(163-165)aTt>aCt	p.I55T	TBRG1_ENST00000375005.4_5'UTR	NM_032811.2	NP_116200.2	Q3YBR2	TBRG1_HUMAN	transforming growth factor beta regulator 1	55					cell cycle arrest (GO:0007050)|DNA replication (GO:0006260)|negative regulation of cell proliferation (GO:0008285)|nucleolus to nucleoplasm transport (GO:0032066)|protein stabilization (GO:0050821)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				kidney(1)|prostate(1)	2	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0218)		AATGCTGCTATTTGTGATGAA	0.313																																																0													113	102	105					11																	124494840		692	1591	2283	SO:0001583	missense	84897			AK074140	CCDS8448.2	11q24.2	2008-02-05			ENSG00000154144	ENSG00000154144			29551	protein-coding gene	gene with protein product	"nuclear interactor of ARF and MDM2"	610614				7654366, 17110379	Standard	NM_032811		Approved	FLJ14621, TB-5, NIAM	uc001qak.4	Q3YBR2	OTTHUMG00000153024	ENST00000441174.3:c.164T>C	chr11.hg19:g.124494840T>C	ENSP00000409016:p.Ile55Thr		Q53GJ5|Q66ZJ6|Q69YS7|Q8TCS4|Q8TEI4|Q96SV0	Missense_Mutation	SNP	ENST00000441174.3	hg19	CCDS8448.2	.	.	.	.	.	.	.	.	.	.	T	17.33	3.362644	0.61403	.	.	ENSG00000154144	ENST00000441174	D	0.81739	-1.53	5.46	5.46	0.80206	.	0.140838	0.48286	D	0.000187	T	0.73916	0.3648	L	0.43152	1.355	0.80722	D	1	B	0.32245	0.361	B	0.28139	0.086	T	0.75909	-0.3151	10	0.87932	D	0	-5.4942	13.5458	0.61702	0.0:0.0:0.0:1.0	.	55	Q3YBR2	TBRG1_HUMAN	T	55	ENSP00000409016:I55T	ENSP00000284290:I55T	I	+	2	0	TBRG1	124000050	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.617000	0.74210	2.291000	0.77112	0.533000	0.62120	ATT		0.313	TBRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329057.2	NM_032811		C	124494840	T	C	124494840	3	2	684	1	0	0	0	0	1	0	0	0	15653	1493	52	3	170	3	TBRG1	11	124494840	Missense_Mutation	SNP	T	TCGA-IA-A83W-01A-11D-A34Z-10	242334	124494840	10511676	32	37796											
CHD8	57680	hgsc.bcm.edu	37	14	21860710	21860710	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IA-A83W-01A-11D-A34Z-10	TCGA-IA-A83W-11A-11D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b5bc3d4-904a-4ece-a4fb-4263014e4b39	da2fe768-0f46-492c-99cc-6b417fd4a40c	g.chr14:21860710delG	ENST00000557364.1	-	34	6990	c.6727delC	c.(6727-6729)cgcfs	p.R2244fs	SNORD9_ENST00000362566.1_RNA|CHD8_ENST00000399982.2_Frame_Shift_Del_p.R2244fs|CHD8_ENST00000555962.1_5'Flank|CHD8_ENST00000430710.3_Frame_Shift_Del_p.R1965fs			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2244					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)		ATGCCTCGGCGAAGTTTGGTG	0.522																																																0													146	150	149					14																	21860710		2091	4228	6319	SO:0001589	frameshift_variant	57680			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.6727delC	chr14.hg19:g.21860710delG	ENSP00000451601:p.Arg2244fs		Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Frame_Shift_Del	DEL	ENST00000557364.1	hg19	CCDS53885.1																																																																																				0.522	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		-	21860710	G	-	21860710	7	5	684	1	0	1	0	1	0	0	0	0	3333	1058	37	0	1038	0	CHD8	14	21860710	Frame_Shift_Del	DEL	G	TCGA-IA-A83W-01A-11D-A34Z-10		21860710	85488830	33	37797											
MAPKBP1	23005	hgsc.bcm.edu	37	15	42111022	42111022	+	Splice_Site	SNP	T	T	C			TCGA-IA-A83W-01A-11D-A34Z-10	TCGA-IA-A83W-11A-11D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b5bc3d4-904a-4ece-a4fb-4263014e4b39	da2fe768-0f46-492c-99cc-6b417fd4a40c	g.chr15:42111022T>C	ENST00000456763.2	+	21	2372	c.2176T>C	c.(2176-2178)Tgc>Cgc	p.C726R	MAPKBP1_ENST00000457542.2_Splice_Site_p.C720R|MAPKBP1_ENST00000221214.6_Splice_Site_p.C603R|MAPKBP1_ENST00000260357.7_Splice_Site_p.C559R|MAPKBP1_ENST00000514566.1_Splice_Site_p.C720R	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	726										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)		TTACCCCAGCTGCATATTTGT	0.602																																																0													51	44	46					15																	42111022		2203	4300	6503	SO:0001630	splice_region_variant	23005			AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"WD repeat domain containing"	29536	protein-coding gene	gene with protein product			"mitogen activated protein kinase binding protein 1"			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.2175-1T>C	chr15.hg19:g.42111022T>C			A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP	ENST00000456763.2	hg19	CCDS45239.1	.	.	.	.	.	.	.	.	.	.	t	25.7	4.667026	0.88251	.	.	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000260357;ENST00000456763;ENST00000514566	T;T;T;T;T	0.59502	0.26;0.26;0.26;0.26;0.26	5.67	5.67	0.87782	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.040834	0.85682	D	0.000000	T	0.64057	0.2564	N	0.20685	0.6	0.80722	D	1	D;D;P;D;D	0.89917	1.0;0.962;0.947;1.0;1.0	D;D;P;D;D	0.97110	0.999;0.953;0.58;1.0;0.999	T	0.69555	-0.5114	10	0.87932	D	0	-17.5168	15.5731	0.76354	0.0:0.0:0.0:1.0	.	559;603;720;726;720	F8WC21;O60336-3;O60336-2;O60336;O60336-6	.;.;.;MABP1_HUMAN;.	R	720;603;559;726;720	ENSP00000397570:C720R;ENSP00000221214:C603R;ENSP00000260357:C559R;ENSP00000393099:C726R;ENSP00000426154:C720R	ENSP00000221214:C603R	C	+	1	0	MAPKBP1	39898314	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	7.855000	0.86950	2.160000	0.67779	0.454000	0.30748	TGC		0.602	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994	Missense_Mutation	C	42111022	T	C	42111022	5	2	684	1	0	0	0	0	0	0	1	0	9294	1594	55	3	2254	3	MAPKBP1	15	42111022	Splice_Site	SNP	T	TCGA-IA-A83W-01A-11D-A34Z-10		42111022	60420370	34	37798											
MEX3B	84206	hgsc.bcm.edu	37	15	82337942	82337942	+	Silent	SNP	C	C	T			TCGA-IA-A83W-01A-11D-A34Z-10	TCGA-IA-A83W-11A-11D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b5bc3d4-904a-4ece-a4fb-4263014e4b39	da2fe768-0f46-492c-99cc-6b417fd4a40c	g.chr15:82337942C>T	ENST00000329713.4	-	1	540	c.105G>A	c.(103-105)caG>caA	p.Q35Q	MEX3B_ENST00000558133.1_Silent_p.Q35Q|AC026956.1_ENST00000410589.1_RNA	NM_032246.4	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	35					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						CGAGCGCGAGCTGCAGGGCTC	0.687																																																0													23	18	20					15																	82337942		2200	4299	6499	SO:0001819	synonymous_variant	84206			AK131424	CCDS10319.1	15q25.1	2013-08-21	2013-08-21	2007-07-18	ENSG00000183496	ENSG00000183496		"RING-type (C3HC4) zinc fingers", "Mex-3 homologs"	25297	protein-coding gene	gene with protein product		611008	"ring finger and KH domain containing 3", "mex-3 homolog B (C. elegans)"	RKHD3		11230166, 17267406	Standard	NM_032246		Approved	DKFZp434J0617, RNF195	uc002bgq.2	Q6ZN04	OTTHUMG00000147356	ENST00000329713.4:c.105G>A	chr15.hg19:g.82337942C>T			Q4G0W1|Q8IVG2|Q9H0J0	Silent	SNP	ENST00000329713.4	hg19	CCDS10319.1																																																																																				0.687	MEX3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304000.1	XM_290645		T	82337942	C	T	82337942	2	4	684	1	0	0	0	0	0	0	0	1	9512	796	28	2		2	MEX3B	15	82337942	Silent	SNP	C	TCGA-IA-A83W-01A-11D-A34Z-10	40226920	82337942	20193450	35	37799											
IL32	9235	hgsc.bcm.edu	37	16	3119039	3119039	+	Missense_Mutation	SNP	G	G	A			TCGA-IA-A83W-01A-11D-A34Z-10	TCGA-IA-A83W-11A-11D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b5bc3d4-904a-4ece-a4fb-4263014e4b39	da2fe768-0f46-492c-99cc-6b417fd4a40c	g.chr16:3119039G>A	ENST00000534507.1	+	6	599	c.388G>A	c.(388-390)Ggc>Agc	p.G130S	IL32_ENST00000548476.1_Missense_Mutation_p.G130S|IL32_ENST00000396887.3_Missense_Mutation_p.G84S|IL32_ENST00000549213.1_Missense_Mutation_p.G84S|IL32_ENST00000529699.1_Missense_Mutation_p.G64S|IL32_ENST00000530890.1_Missense_Mutation_p.G64S|IL32_ENST00000528163.2_Missense_Mutation_p.G84S|IL32_ENST00000530538.2_Missense_Mutation_p.G84S|IL32_ENST00000444393.3_Missense_Mutation_p.G84S|IL32_ENST00000396890.2_Missense_Mutation_p.G130S|IL32_ENST00000008180.9_Missense_Mutation_p.G64S|IL32_ENST00000325568.5_Missense_Mutation_p.G84S|IL32_ENST00000440815.3_Missense_Mutation_p.G84S|IL32_ENST00000548652.1_Missense_Mutation_p.G75S|IL32_ENST00000551122.1_Missense_Mutation_p.G84S|IL32_ENST00000548246.1_Missense_Mutation_p.G44S|IL32_ENST00000552936.1_Missense_Mutation_p.G108S|RNU1-125P_ENST00000516752.1_RNA|IL32_ENST00000552664.1_Missense_Mutation_p.G84S|IL32_ENST00000531965.1_Missense_Mutation_p.G74S|IL32_ENST00000529550.1_Missense_Mutation_p.G84S|IL32_ENST00000382213.3_Missense_Mutation_p.G75S|IL32_ENST00000526464.2_Missense_Mutation_p.G84S|IL32_ENST00000525643.2_Missense_Mutation_p.G84S|IL32_ENST00000533097.2_Missense_Mutation_p.G84S|IL32_ENST00000551513.1_Missense_Mutation_p.G121S|IL32_ENST00000552356.1_Missense_Mutation_p.G64S			P24001	IL32_HUMAN	interleukin 32	130					cell adhesion (GO:0007155)|defense response (GO:0006952)|immune response (GO:0006955)	extracellular space (GO:0005615)|membrane (GO:0016020)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						ACGGTGCCGAGGCAACAGATC	0.562																																																0													8	11	10					16																	3119039		2078	4205	6283	SO:0001583	missense	9235			M59807	CCDS32377.1, CCDS32378.1, CCDS32379.1, CCDS45394.1	16p13.3	2011-07-21			ENSG00000008517	ENSG00000008517		"Interleukins and interleukin receptors"	16830	protein-coding gene	gene with protein product	"natural killer cell transcript 4"	606001				1729377, 9653642	Standard	XM_005255686		Approved	NK4, TAIF, TAIFb, TAIFd	uc002ctn.3	P24001	OTTHUMG00000167498	ENST00000534507.1:c.388G>A	chr16.hg19:g.3119039G>A	ENSP00000431775:p.Gly130Ser		A6NNM0|A8MPX0|B4DJM1|B8Q191|D3DUB0|D3DUB2|Q5VFH7|Q5VFH8|Q8WV38|Q96GK9	Missense_Mutation	SNP	ENST00000534507.1	hg19		.	.	.	.	.	.	.	.	.	.	G	10.98	1.503057	0.26949	.	.	ENSG00000008517	ENST00000325568;ENST00000534507;ENST00000531965;ENST00000396887;ENST00000529699;ENST00000526464;ENST00000440815;ENST00000529550;ENST00000551122;ENST00000525643;ENST00000548807;ENST00000528163;ENST00000530890;ENST00000444393;ENST00000533097;ENST00000008180;ENST00000396890;ENST00000525228;ENST00000548652;ENST00000530538;ENST00000549213;ENST00000552936;ENST00000548476;ENST00000552664;ENST00000552356;ENST00000551513;ENST00000382213;ENST00000548246	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	0.74002	0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;-0.8;-0.8;0.9;0.9;0.9;0.9;0.9;0.9;0.9;-0.8;0.9	1.63	-0.842	0.10748	.	.	.	.	.	T	0.67411	0.2890	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B;B;D	0.76494	0.311;0.311;0.311;0.311;0.311;0.311;0.999	B;B;B;B;B;B;D	0.70716	0.036;0.048;0.048;0.048;0.048;0.048;0.97	T	0.55522	-0.8128	9	0.40728	T	0.16	.	2.5712	0.04795	0.236:0.313:0.451:0.0	.	44;64;75;64;130;84;84	B8Q191;C6GKH1;A6NNM0;A8MPX0;P24001;P24001-2;P24001-4	.;.;.;.;IL32_HUMAN;.;.	S	84;130;74;84;64;84;84;84;84;84;130;84;64;84;84;64;130;55;75;84;84;108;130;84;64;121;75;44	ENSP00000324742:G84S;ENSP00000431775:G130S;ENSP00000433177:G74S;ENSP00000380096:G84S;ENSP00000436937:G64S;ENSP00000450364:G84S;ENSP00000405063:G84S;ENSP00000437020:G84S;ENSP00000447496:G84S;ENSP00000432218:G84S;ENSP00000448354:G130S;ENSP00000432850:G84S;ENSP00000433747:G64S;ENSP00000411958:G84S;ENSP00000432917:G84S;ENSP00000008180:G64S;ENSP00000380099:G130S;ENSP00000431740:G55S;ENSP00000446624:G75S;ENSP00000436929:G84S;ENSP00000447812:G84S;ENSP00000447033:G108S;ENSP00000449483:G130S;ENSP00000448683:G84S;ENSP00000446978:G64S;ENSP00000449147:G121S;ENSP00000371648:G75S;ENSP00000447979:G44S	ENSP00000008180:G64S	G	+	1	0	IL32	3059040	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.184000	0.01254	-0.162000	0.10964	0.543000	0.68304	GGC		0.562	IL32-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000394812.2	NM_004221		A	3119039	G	A	3119039	3	1	684	1	0	0	0	0	1	0	0	0	7694	1000	35	2	272	2	IL32	16	3119039	Missense_Mutation	SNP	G	TCGA-IA-A83W-01A-11D-A34Z-10		3119039	87235714	36	37800											
CNTNAP4	85445	hgsc.bcm.edu	37	16	76574667	76574667	+	Missense_Mutation	SNP	T	T	C			TCGA-IA-A83W-01A-11D-A34Z-10	TCGA-IA-A83W-11A-11D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b5bc3d4-904a-4ece-a4fb-4263014e4b39	da2fe768-0f46-492c-99cc-6b417fd4a40c	g.chr16:76574667T>C	ENST00000476707.1	+	20	3570	c.3431T>C	c.(3430-3432)cTg>cCg	p.L1144P	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.L1092P|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.L1068P|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.L1140P			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	1141	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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						GTCAAATCTCTGGTATTGGGC	0.368																																																0													76	70	72					16																	76574667		1895	4124	6019	SO:0001583	missense	85445			AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.3431T>C	chr16.hg19:g.76574667T>C	ENSP00000417628:p.Leu1144Pro		E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	hg19		.	.	.	.	.	.	.	.	.	.	T	23.1	4.370884	0.82573	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	D;D;D;D	0.85861	-2.04;-2.04;-2.04;-2.04	5.65	5.65	0.86999	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.35495	N	0.003164	D	0.92519	0.7624	.	.	.	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	0.93393	0.6753	9	0.87932	D	0	.	16.0399	0.80667	0.0:0.0:0.0:1.0	.	1068;1144;1141	E9PFZ6;E9PDN6;Q9C0A0	.;.;CNTP4_HUMAN	P	1140;1092;1068;1144	ENSP00000306893:L1140P;ENSP00000439733:L1092P;ENSP00000418741:L1068P;ENSP00000417628:L1144P	ENSP00000306893:L1140P	L	+	2	0	CNTNAP4	75132168	1.000000	0.71417	0.893000	0.35052	0.988000	0.76386	7.293000	0.78740	2.371000	0.80710	0.533000	0.62120	CTG		0.368	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		C	76574667	T	C	76574667	3	2	684	1	0	0	0	0	1	0	0	0	3651	1580	55	3	3517	3	CNTNAP4	16	76574667	Missense_Mutation	SNP	T	TCGA-IA-A83W-01A-11D-A34Z-10	73455628	76574667	13780086	37	37801											
KIAA1609	57707	hgsc.bcm.edu	37	16	84529314	84529314	+	Missense_Mutation	SNP	G	G	A			TCGA-IA-A83W-01A-11D-A34Z-10	TCGA-IA-A83W-11A-11D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b5bc3d4-904a-4ece-a4fb-4263014e4b39	da2fe768-0f46-492c-99cc-6b417fd4a40c	g.chr16:84529314G>A	ENST00000343629.6	-	3	541	c.359C>T	c.(358-360)cCc>cTc	p.P120L	TLDC1_ENST00000561807.1_5'UTR|RP11-517C16.4_ENST00000568771.1_RNA|TLDC1_ENST00000535580.1_Missense_Mutation_p.P93L	NM_020947.3	NP_065998.3	Q6P9B6	TLDC1_HUMAN	TBC/LysM-associated domain containing 1	120						lysosomal membrane (GO:0005765)											GGCCTTCACGGGACCTTCTGT	0.537																																																0													105	99	101					16																	84529314		2200	4300	6500	SO:0001583	missense	57707			AB046829	CCDS32498.1	16q24.1	2013-03-14	2013-03-14	2013-03-14	ENSG00000140950	ENSG00000140950			29325	protein-coding gene	gene with protein product	"TLD domain containing 1"		"KIAA1609"	KIAA1609		10997877	Standard	NM_020947		Approved		uc002fib.3	Q6P9B6	OTTHUMG00000176739	ENST00000343629.6:c.359C>T	chr16.hg19:g.84529314G>A	ENSP00000343635:p.Pro120Leu		Q8IZ64|Q9HCG3|Q9NTE8	Missense_Mutation	SNP	ENST00000343629.6	hg19	CCDS32498.1	.	.	.	.	.	.	.	.	.	.	G	8.563	0.878146	0.17395	.	.	ENSG00000140950	ENST00000343629;ENST00000535580	T;T	0.13901	2.55;2.55	4.46	4.46	0.54185	.	0.708586	0.14302	N	0.328228	T	0.19087	0.0458	M	0.66939	2.045	0.21697	N	0.999581	B;B	0.26258	0.145;0.121	B;B	0.23852	0.049;0.031	T	0.06588	-1.0818	10	0.49607	T	0.09	-9.2031	15.1519	0.72706	0.0:0.0:1.0:0.0	.	93;120	F5GWS3;Q6P9B6	.;K1609_HUMAN	L	120;93	ENSP00000343635:P120L;ENSP00000441997:P93L	ENSP00000343635:P120L	P	-	2	0	KIAA1609	83086815	0.964000	0.33143	0.005000	0.12908	0.086000	0.17979	5.657000	0.67996	2.402000	0.81655	0.563000	0.77884	CCC		0.537	TLDC1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433421.1	NM_020947		A	84529314	G	A	84529314	3	1	684	1	0	0	0	0	1	0	0	0	8249	1232	43	2	1035	2	KIAA1609	16	84529314	Missense_Mutation	SNP	G	TCGA-IA-A83W-01A-11D-A34Z-10	7954647	84529314	5825439	38	37802											
FBXO31	79791	hgsc.bcm.edu	37	16	87367551	87367551	+	Frame_Shift_Del	DEL	G	G	-	rs139174683	byFrequency	TCGA-IA-A83W-01A-11D-A34Z-10	TCGA-IA-A83W-11A-11D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b5bc3d4-904a-4ece-a4fb-4263014e4b39	da2fe768-0f46-492c-99cc-6b417fd4a40c	g.chr16:87367551delG	ENST00000311635.7	-	8	1350	c.1338delC	c.(1336-1338)ttcfs	p.F446fs	RP11-178L8.4_ENST00000568879.1_Frame_Shift_Del_p.S110fs	NM_001282683.1|NM_024735.3	NP_001269612.1|NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31	446					cellular response to DNA damage stimulus (GO:0006974)|cyclin catabolic process (GO:0008054)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		CGGGCAGCACGAACGGCTGCC	0.677																																																0													32	39	37					16																	87367551		2196	4296	6492	SO:0001589	frameshift_variant	79791			BC002985	CCDS32501.1, CCDS73922.1	16q24	2008-12-18	2004-05-27			ENSG00000103264		"F-boxes /  "other""	16510	protein-coding gene	gene with protein product		609102	"F-box only protein 31"				Standard	NM_024735		Approved	FBX14, FBXO14, Fbx31, MGC15419	uc002fjw.3	Q5XUX0		ENST00000311635.7:c.1338delC	chr16.hg19:g.87367551delG	ENSP00000310841:p.Phe446fs		Q5K680|Q8WYV1|Q96D73|Q9UFV4	Frame_Shift_Del	DEL	ENST00000311635.7	hg19	CCDS32501.1																																																																																				0.677	FBXO31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430799.2	NM_024735		-	87367551	G	-	87367551	7	5	684	1	0	1	0	1	0	0	0	0	5743	1049	37	0	289	0	FBXO31	16	87367551	Frame_Shift_Del	DEL	G	TCGA-IA-A83W-01A-11D-A34Z-10	2838237	87367551	2987202	39	37803											
SMYD4	114826	hgsc.bcm.edu	37	17	1704144	1704148	+	Frame_Shift_Del	DEL	CATCT	CATCT	-	rs139571127|rs372624455	byFrequency	TCGA-IA-A83W-01A-11D-A34Z-10	TCGA-IA-A83W-11A-11D-A34Z-10	CATCT	CATCT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b5bc3d4-904a-4ece-a4fb-4263014e4b39	da2fe768-0f46-492c-99cc-6b417fd4a40c	g.chr17:1704144_1704148delCATCT	ENST00000305513.7	-	5	707_711	c.540_544delAGATG	c.(538-546)gcagatgtcfs	p.DV181fs		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	181							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						TGAGGGAGGACATCTGCTAGGGCTG	0.517																																																0																																										SO:0001589	frameshift_variant	114826			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.540_544delAGATG	chr17.hg19:g.1704144_1704148delCATCT	ENSP00000304360:p.Asp181fs		Q8N1P2|Q8NAT0|Q96LV4|Q96PV2	Frame_Shift_Del	DEL	ENST00000305513.7	hg19	CCDS11013.1																																																																																				0.517	SMYD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207108.4	XM_056082		-	1704148	CATCT	-	1704144	7	5	684	1	0	1	0	1	0	0	0	0	14830	478	17	0	1898	0	SMYD4	17	1704144	Frame_Shift_Del	DEL	CATCT	TCGA-IA-A83W-01A-11D-A34Z-10		1704144	79491066	40	37804											
MYH10	4628	hgsc.bcm.edu	37	17	8404148	8404148	+	Missense_Mutation	SNP	T	T	G			TCGA-IA-A83W-01A-11D-A34Z-10	TCGA-IA-A83W-11A-11D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b5bc3d4-904a-4ece-a4fb-4263014e4b39	da2fe768-0f46-492c-99cc-6b417fd4a40c	g.chr17:8404148T>G	ENST00000269243.4	-	27	3785	c.3647A>C	c.(3646-3648)aAg>aCg	p.K1216T	MYH10_ENST00000360416.3_Missense_Mutation_p.K1247T|MYH10_ENST00000396239.1_Missense_Mutation_p.K1237T|MYH10_ENST00000379980.4_Missense_Mutation_p.K1232T	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1216					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						CCTTACCCGCTTGGCCTGTTC	0.542																																																0													144	128	134					17																	8404148		2203	4300	6503	SO:0001583	missense	4628			M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"Myosins / Myosin superfamily : Class II"	7568	protein-coding gene	gene with protein product		160776	"myosin, heavy polypeptide 10, non-muscle"			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.3647A>C	chr17.hg19:g.8404148T>G	ENSP00000269243:p.Lys1216Thr		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	hg19	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	T	18.75	3.689612	0.68271	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	4.71	4.71	0.59529	Myosin tail (1);	0.100830	0.64402	D	0.000003	D	0.86826	0.6026	M	0.78456	2.415	0.80722	D	1	D;D;D	0.55605	0.972;0.965;0.972	D;P;D	0.64410	0.925;0.877;0.925	D	0.88793	0.3279	10	0.87932	D	0	.	14.3623	0.66782	0.0:0.0:0.0:1.0	.	1225;1247;1216	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	T	1216;1247;1237;1232	ENSP00000269243:K1216T;ENSP00000353590:K1247T;ENSP00000379539:K1237T;ENSP00000369315:K1232T	ENSP00000269243:K1216T	K	-	2	0	MYH10	8344873	1.000000	0.71417	0.132000	0.22025	0.733000	0.41908	4.643000	0.61390	1.954000	0.56735	0.533000	0.62120	AAG		0.542	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			G	8404148	T	G	8404148	3	3	684	1	0	0	0	0	1	0	0	0	10032	1609	56	5	2343	5	MYH10	17	8404148	Missense_Mutation	SNP	T	TCGA-IA-A83W-01A-11D-A34Z-10	6700004	8404148	72791062	41	37805											
DNAH9	1770	hgsc.bcm.edu	37	17	11696924	11696924	+	Missense_Mutation	SNP	A	A	T			TCGA-IA-A83W-01A-11D-A34Z-10	TCGA-IA-A83W-11A-11D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b5bc3d4-904a-4ece-a4fb-4263014e4b39	da2fe768-0f46-492c-99cc-6b417fd4a40c	g.chr17:11696924A>T	ENST00000262442.4	+	42	8234	c.8166A>T	c.(8164-8166)gaA>gaT	p.E2722D	DNAH9_ENST00000454412.2_Missense_Mutation_p.E2722D	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2722					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)		TGGTAGAAGAAAAGGACTTTG	0.348																																																0													118	120	119					17																	11696924		2203	4300	6503	SO:0001583	missense	1770			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.8166A>T	chr17.hg19:g.11696924A>T	ENSP00000262442:p.Glu2722Asp		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	hg19	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	A	7.177	0.588782	0.13812	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.39997	1.05;1.05	5.76	2.04	0.26737	.	0.172799	0.50627	D	0.000109	T	0.24547	0.0595	L	0.31065	0.9	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.06127	-1.0844	10	0.13470	T	0.59	.	7.0036	0.24823	0.7388:0.1231:0.1382:0.0	.	2722	Q9NYC9	DYH9_HUMAN	D	2722;2722;1304	ENSP00000262442:E2722D;ENSP00000414874:E2722D	ENSP00000262442:E2722D	E	+	3	2	DNAH9	11637649	1.000000	0.71417	1.000000	0.80357	0.408000	0.30992	0.979000	0.29500	0.394000	0.25230	-0.264000	0.10439	GAA		0.348	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		T	11696924	A	T	11696924	3	4	684	1	0	0	0	0	1	0	0	0	4610	11	1	5	8332	5	DNAH9	17	11696924	Missense_Mutation	SNP	A	TCGA-IA-A83W-01A-11D-A34Z-10	3292776	11696924	69498286	42	37806											
PCGF2	7703	hgsc.bcm.edu	37	17	36891741	36891741	+	Missense_Mutation	SNP	T	T	C			TCGA-IA-A83W-01A-11D-A34Z-10	TCGA-IA-A83W-11A-11D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b5bc3d4-904a-4ece-a4fb-4263014e4b39	da2fe768-0f46-492c-99cc-6b417fd4a40c	g.chr17:36891741T>C	ENST00000580830.1	-	12	1471	c.770A>G	c.(769-771)gAg>gGg	p.E257G	PCGF2_ENST00000360797.2_Missense_Mutation_p.E257G|PCGF2_ENST00000579882.1_Nonstop_Mutation_p.*258W|PCGF2_ENST00000585100.1_Nonstop_Mutation_p.*258W|PCGF2_ENST00000581345.1_Missense_Mutation_p.E257G|PCGF2_ENST00000578109.1_Nonstop_Mutation_p.*204W			P35227	PCGF2_HUMAN	polycomb group ring finger 2	257	Pro/Ser-rich.				anterior/posterior pattern specification (GO:0009952)|cellular response to hydrogen peroxide (GO:0070301)|embryonic skeletal system morphogenesis (GO:0048704)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10	Breast(7;9.07e-22)					GCTGACTGACTCACACTCGGA	0.687											OREG0024367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													20	18	18					17																	36891741		2193	4292	6485	SO:0001583	missense	7703			D13969	CCDS32638.1	17q12	2013-01-09	2005-01-17	2005-01-19		ENSG00000277258		"RING-type (C3HC4) zinc fingers", "Polycomb group ring fingers"	12929	protein-coding gene	gene with protein product		600346	"ring finger protein 110"	ZNF144, RNF110		8325509	Standard	NM_007144		Approved	MEL-18	uc002hqp.1	P35227		ENST00000580830.1:c.770A>G	chr17.hg19:g.36891741T>C	ENSP00000461961:p.Glu257Gly	866	A6NGD8	Missense_Mutation	SNP	ENST00000580830.1	hg19	CCDS32638.1	.	.	.	.	.	.	.	.	.	.	T	16.51	3.144822	0.57044	.	.	ENSG00000056661	ENST00000360797	T	0.33654	1.4	4.82	4.82	0.62117	.	0.057727	0.64402	D	0.000002	T	0.33644	0.0870	L	0.29908	0.895	0.49483	D	0.999793	D	0.55605	0.972	P	0.47673	0.554	T	0.12477	-1.0546	10	0.54805	T	0.06	-25.0052	13.3514	0.60603	0.0:0.0:0.0:1.0	.	257	P35227	PCGF2_HUMAN	G	257	ENSP00000354033:E257G	ENSP00000354033:E257G	E	-	2	0	PCGF2	34145267	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.130000	0.77235	2.035000	0.60131	0.459000	0.35465	GAG		0.687	PCGF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442246.2	NM_007144		C	36891741	T	C	36891741	3	2	684	1	0	0	0	0	1	0	0	0	11577	1551	54	3	268	3	PCGF2	17	36891741	Missense_Mutation	SNP	T	TCGA-IA-A83W-01A-11D-A34Z-10	25194817	36891741	44303469	43	37807											
NAGLU	4669	hgsc.bcm.edu	37	17	40695970	40695970	+	Frame_Shift_Del	DEL	G	G	-	rs527236038		TCGA-IA-A83W-01A-11D-A34Z-10	TCGA-IA-A83W-11A-11D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b5bc3d4-904a-4ece-a4fb-4263014e4b39	da2fe768-0f46-492c-99cc-6b417fd4a40c	g.chr17:40695970delG	ENST00000225927.2	+	6	2047	c.1946delG	c.(1945-1947)tggfs	p.W649fs	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	649			W -> C (in MPS3B; no enzyme activity; synthesizes a polypeptide with a molecular size similar to that of the wild-type). {ECO:0000269|PubMed:11153910}.		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)	CTGACCTTGTGGGGGCCAGAA	0.627																																																0													31	25	27					17																	40695970		2202	4300	6502	SO:0001589	frameshift_variant	4669				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.1946delG	chr17.hg19:g.40695970delG	ENSP00000225927:p.Trp649fs			Frame_Shift_Del	DEL	ENST00000225927.2	hg19	CCDS11427.1																																																																																				0.627	NAGLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450385.1	NM_000263		-	40695970	G	-	40695970	7	5	684	1	0	1	0	1	0	0	0	0	10145	1357	47	0	1968	0	NAGLU	17	40695970	Frame_Shift_Del	DEL	G	TCGA-IA-A83W-01A-11D-A34Z-10	3804229	40695970	40499240	44	37808											
ACSF2	80221	hgsc.bcm.edu	37	17	48541192	48541192	+	Missense_Mutation	SNP	T	T	C			TCGA-IA-A83W-01A-11D-A34Z-10	TCGA-IA-A83W-11A-11D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b5bc3d4-904a-4ece-a4fb-4263014e4b39	da2fe768-0f46-492c-99cc-6b417fd4a40c	g.chr17:48541192T>C	ENST00000300441.4	+	9	1164	c.1060T>C	c.(1060-1062)Tat>Cat	p.Y354H	ACSF2_ENST00000427954.2_Missense_Mutation_p.Y379H|ACSF2_ENST00000502667.1_Missense_Mutation_p.Y341H|ACSF2_ENST00000504392.1_Missense_Mutation_p.Y311H|ACSF2_ENST00000541920.1_Missense_Mutation_p.Y194H	NM_025149.4	NP_079425.3	Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2	354					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ligase activity (GO:0016874)			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			CACCTTCCTGTATGGTACCCC	0.552																																																0													140	135	137					17																	48541192		2203	4300	6503	SO:0001583	missense	80221			AK024573, BC012053	CCDS11567.1, CCDS74103.1, CCDS74104.1, CCDS74105.1	17q21.33	2007-10-17			ENSG00000167107	ENSG00000167107		"Acyl-CoA synthetase family"	26101	protein-coding gene	gene with protein product		610465				17762044	Standard	NM_001288968		Approved	FLJ20920, ACSMW	uc002iqu.2	Q96CM8	OTTHUMG00000162128	ENST00000300441.4:c.1060T>C	chr17.hg19:g.48541192T>C	ENSP00000300441:p.Tyr354His		B4DFQ6|B4DHT5|B4DUF5|Q9H7G2	Missense_Mutation	SNP	ENST00000300441.4	hg19	CCDS11567.1	.	.	.	.	.	.	.	.	.	.	T	10.66	1.413740	0.25465	.	.	ENSG00000167107	ENST00000300441;ENST00000541920;ENST00000504392;ENST00000427954;ENST00000502667	T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76	4.8	4.8	0.61643	AMP-dependent synthetase/ligase (1);	0.125162	0.56097	D	0.000030	T	0.41073	0.1143	L	0.28274	0.84	0.47698	D	0.999499	P;P;P;P	0.42357	0.632;0.777;0.632;0.632	P;P;P;P	0.53266	0.582;0.722;0.582;0.582	T	0.31752	-0.9932	10	0.07813	T	0.8	-5.2894	7.5258	0.27653	0.0:0.1322:0.0:0.8678	.	341;379;311;354	B4DHT5;B4DFQ6;E9PF16;Q96CM8	.;.;.;ACSF2_HUMAN	H	354;194;311;379;341	ENSP00000300441:Y354H;ENSP00000437987:Y194H;ENSP00000425964:Y311H;ENSP00000401831:Y379H;ENSP00000421884:Y341H	ENSP00000300441:Y354H	Y	+	1	0	ACSF2	45896191	0.981000	0.34729	0.997000	0.53966	0.768000	0.43524	3.223000	0.51231	2.016000	0.59253	0.533000	0.62120	TAT		0.552	ACSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367423.3	NM_025149		C	48541192	T	C	48541192	3	2	684	1	0	0	0	0	1	0	0	0	175	1638	57	3	1094	3	ACSF2	17	48541192	Missense_Mutation	SNP	T	TCGA-IA-A83W-01A-11D-A34Z-10	7845222	48541192	32654018	45	37809											
MIB1	57534	hgsc.bcm.edu	37	18	19438539	19438539	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IA-A83W-01A-11D-A34Z-10	TCGA-IA-A83W-11A-11D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b5bc3d4-904a-4ece-a4fb-4263014e4b39	da2fe768-0f46-492c-99cc-6b417fd4a40c	g.chr18:19438539delA	ENST00000261537.6	+	20	3076	c.2812delA	c.(2812-2814)aagfs	p.K938fs	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	938					blood vessel development (GO:0001568)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|negative regulation of neuron differentiation (GO:0045665)|neural tube formation (GO:0001841)|Notch signaling pathway (GO:0007219)|positive regulation of endocytosis (GO:0045807)|somitogenesis (GO:0001756)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			ACAAAAGGACAAGGATAATAC	0.299																																																0													110	115	114					18																	19438539		2203	4299	6502	SO:0001589	frameshift_variant	57534			AB037744	CCDS11871.1	18q11.2	2014-09-17	2012-02-23		ENSG00000101752	ENSG00000101752		"Zinc fingers, ZZ-type", "Ankyrin repeat domain containing"	21086	protein-coding gene	gene with protein product		608677	"mindbomb homolog 1 (Drosophila)"				Standard	NM_020774		Approved	DIP-1, MIB, KIAA1323, ZZANK2, ZZZ6	uc002ktq.3	Q86YT6	OTTHUMG00000131753	ENST00000261537.6:c.2812delA	chr18.hg19:g.19438539delA	ENSP00000261537:p.Lys938fs		B0YJ38|Q2TB37|Q68D01|Q6YI51|Q8NBY0|Q8TCB5|Q8TCL7|Q9P2M3	Frame_Shift_Del	DEL	ENST00000261537.6	hg19	CCDS11871.1																																																																																				0.299	MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254675.1	NM_020774		-	19438539	A	-	19438539	7	5	684	1	0	1	0	1	0	0	0	0	9568	131	5	0	2890	0	MIB1	18	19438539	Frame_Shift_Del	DEL	A	TCGA-IA-A83W-01A-11D-A34Z-10		19438539	58638709	46	37810											
ALPK2	115701	hgsc.bcm.edu	37	18	56246675	56246675	+	Missense_Mutation	SNP	C	C	T			TCGA-IA-A83W-01A-11D-A34Z-10	TCGA-IA-A83W-11A-11D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b5bc3d4-904a-4ece-a4fb-4263014e4b39	da2fe768-0f46-492c-99cc-6b417fd4a40c	g.chr18:56246675C>T	ENST00000361673.3	-	4	1546	c.1333G>A	c.(1333-1335)Gaa>Aaa	p.E445K	ALPK2_ENST00000587399.1_5'Flank	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	445						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						CTCCCCTGTTCTGTCACTGAA	0.522											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													119	119	119					18																	56246675		2203	4300	6503	SO:0001583	missense	115701			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"Immunoglobulin superfamily / I-set domain containing"	20565	protein-coding gene	gene with protein product	"heart alpha-kinase"					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.1333G>A	chr18.hg19:g.56246675C>T	ENSP00000354991:p.Glu445Lys	1014	Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	hg19	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	C	11.79	1.742506	0.30865	.	.	ENSG00000198796	ENST00000361673	T	0.51817	0.69	5.39	5.39	0.77823	.	1.454940	0.04982	N	0.465878	T	0.41696	0.1170	L	0.34521	1.04	0.09310	N	1	P	0.38922	0.651	B	0.33521	0.165	T	0.41395	-0.9511	10	0.87932	D	0	-2.3006	12.1567	0.54081	0.0:0.9211:0.0:0.0789	.	445	Q86TB3	ALPK2_HUMAN	K	445	ENSP00000354991:E445K	ENSP00000354991:E445K	E	-	1	0	ALPK2	54397655	0.869000	0.29996	0.009000	0.14445	0.219000	0.24729	1.808000	0.38912	2.542000	0.85734	0.561000	0.74099	GAA		0.522	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		T	56246675	C	T	56246675	3	4	684	1	0	0	0	0	1	0	0	0	545	922	32	2	5219	2	ALPK2	18	56246675	Missense_Mutation	SNP	C	TCGA-IA-A83W-01A-11D-A34Z-10	36808136	56246675	21830573	47	37811											
MUC16	94025	hgsc.bcm.edu	37	19	8993026	8993026	+	Silent	SNP	G	G	A			TCGA-IA-A83W-01A-11D-A34Z-10	TCGA-IA-A83W-11A-11D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b5bc3d4-904a-4ece-a4fb-4263014e4b39	da2fe768-0f46-492c-99cc-6b417fd4a40c	g.chr19:8993026G>A	ENST00000397910.4	-	67	41936	c.41733C>T	c.(41731-41733)agC>agT	p.S13911S	MUC16_ENST00000380951.5_Silent_p.S552S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13936				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						TGGGTACAGAGCTCCGATGGG	0.537																																																0													129	118	121					19																	8993026		1912	4130	6042	SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.41733C>T	chr19.hg19:g.8993026G>A			Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	hg19	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	G	3.206	-0.162630	0.06502	.	.	ENSG00000181143	ENST00000542240	.	.	.	2.64	-1.81	0.07882	.	.	.	.	.	T	0.25680	0.0625	.	.	.	.	.	.	.	.	.	.	.	.	T	0.30119	-0.9989	3	.	.	.	.	2.8138	0.05450	0.2886:0.0:0.496:0.2154	.	.	.	.	V	751	.	.	A	-	2	0	MUC16	8854026	0.000000	0.05858	0.000000	0.03702	0.111000	0.19643	-0.235000	0.09016	-0.398000	0.07679	0.400000	0.26472	GCT		0.537	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	8993026	G	A	8993026	2	1	684	1	0	0	0	0	0	0	0	1	9975	962	34	2		2	MUC16	19	8993026	Silent	SNP	G	TCGA-IA-A83W-01A-11D-A34Z-10		8993026	50135957	48	37812											
BRD4	23476	hgsc.bcm.edu	37	19	15349622	15349622	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IA-A83W-01A-11D-A34Z-10	TCGA-IA-A83W-11A-11D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b5bc3d4-904a-4ece-a4fb-4263014e4b39	da2fe768-0f46-492c-99cc-6b417fd4a40c	g.chr19:15349622G>A	ENST00000263377.2	-	19	4173	c.3952C>T	c.(3952-3954)Cag>Tag	p.Q1318*	AC004257.3_ENST00000602793.1_lincRNA	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	1318	C-terminal (CTD) region.				cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			AGCATGGACTGGGGCTGGGAG	0.697			T	C15orf55	lethal midline carcinoma of young people																																		Dom	yes		19	19p13.1	23476	bromodomain containing 4		E	0													10	13	12					19																	15349622		2197	4292	6489	SO:0001587	stop_gained	23476			Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"chromosome-associated protein"	608749	"bromodomain-containing 4"			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.3952C>T	chr19.hg19:g.15349622G>A	ENSP00000263377:p.Gln1318*		O60433|Q4G0X8|Q86YS8|Q96PD3	Nonsense_Mutation	SNP	ENST00000263377.2	hg19	CCDS12328.1	.	.	.	.	.	.	.	.	.	.	g	44	11.038961	0.99507	.	.	ENSG00000141867	ENST00000263377	.	.	.	5.16	5.16	0.70880	.	0.000000	0.47455	D	0.000226	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-17.7226	15.5799	0.76425	0.0:0.0:1.0:0.0	.	.	.	.	X	1318	.	ENSP00000263377:Q1318X	Q	-	1	0	BRD4	15210622	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.219000	0.89770	2.396000	0.81511	0.645000	0.84053	CAG		0.697	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	NM_058243		A	15349622	G	A	15349622	4	1	684	1	0	0	0	0	0	1	0	0	1506	1357	47	2	144	2	BRD4	19	15349622	Nonsense_Mutation	SNP	G	TCGA-IA-A83W-01A-11D-A34Z-10	6356596	15349622	43779361	49	37813											
RPL18A	6142	hgsc.bcm.edu	37	19	17974057	17974058	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IA-A83W-01A-11D-A34Z-10	TCGA-IA-A83W-11A-11D-A34Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b5bc3d4-904a-4ece-a4fb-4263014e4b39	da2fe768-0f46-492c-99cc-6b417fd4a40c	g.chr19:17974057_17974058insA	ENST00000222247.5	+	5	597_598	c.516_517insA	c.(517-519)aacfs	p.N173fs	SNORA68_ENST00000384437.1_RNA|RPL18A_ENST00000599870.1_Frame_Shift_Ins_p.N144fs|RPL18A_ENST00000599898.1_Frame_Shift_Ins_p.N134fs|RPL18A_ENST00000600147.1_Frame_Shift_Ins_p.N151fs	NM_000980.3	NP_000971.1	Q02543	RL18A_HUMAN	ribosomal protein L18a	173					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|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)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						CCAAGAGGCCCAACACCTTCTT	0.609																																																0																																										SO:0001589	frameshift_variant	6142			AB007175	CCDS12367.1	19p13.11	2011-04-06			ENSG00000105640	ENSG00000105640		"L ribosomal proteins"	10311	protein-coding gene	gene with protein product	"60S ribosomal protein L18a", "ribosomal protein L18a-like protein"	604178				9582194	Standard	NM_000980		Approved	L18A	uc002nhp.3	Q02543		ENST00000222247.5:c.518dupA	chr19.hg19:g.17974059_17974059dupA	ENSP00000222247:p.Asn173fs			Frame_Shift_Ins	INS	ENST00000222247.5	hg19	CCDS12367.1																																																																																				0.609	RPL18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466679.1	NM_000980		A	17974058	-	A	17974057	7	5	684	1	0	1	1	0	0	0	0	0	13571	581	21	0	534	0	RPL18A	19	17974057	Frame_Shift_Ins	INS	-	TCGA-IA-A83W-01A-11D-A34Z-10	2624435	17974057	41154926	50	37814											
ACTN4	81	hgsc.bcm.edu	37	19	39214666	39214666	+	Silent	SNP	C	C	T			TCGA-IA-A83W-01A-11D-A34Z-10	TCGA-IA-A83W-11A-11D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b5bc3d4-904a-4ece-a4fb-4263014e4b39	da2fe768-0f46-492c-99cc-6b417fd4a40c	g.chr19:39214666C>T	ENST00000252699.2	+	14	1717	c.1641C>T	c.(1639-1641)gcC>gcT	p.A547A	ACTN4_ENST00000390009.3_Silent_p.A328A|ACTN4_ENST00000424234.2_Silent_p.A157A	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	547					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)			TGGAGAGCGCCATGGAGGACC	0.607																																					Colon(168;199 1940 10254 46213 46384)											0													57	59	59					19																	39214666		2203	4300	6503	SO:0001819	synonymous_variant	81			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.1641C>T	chr19.hg19:g.39214666C>T			A4K467|D6PXK4|O76048	Silent	SNP	ENST00000252699.2	hg19	CCDS12518.1																																																																																				0.607	ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268091.1			T	39214666	C	T	39214666	2	4	684	1	0	0	0	0	0	0	0	1	207	581	21	2		2	ACTN4	19	39214666	Silent	SNP	C	TCGA-IA-A83W-01A-11D-A34Z-10	21240609	39214666	19914317	51	37815											
APCDD1L	164284	hgsc.bcm.edu	37	20	57035951	57035951	+	Missense_Mutation	SNP	C	C	A			TCGA-IA-A83W-01A-11D-A34Z-10	TCGA-IA-A83W-11A-11D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b5bc3d4-904a-4ece-a4fb-4263014e4b39	da2fe768-0f46-492c-99cc-6b417fd4a40c	g.chr20:57035951C>A	ENST00000371149.3	-	4	1631	c.1401G>T	c.(1399-1401)caG>caT	p.Q467H	APCDD1L_ENST00000491015.1_5'Flank|APCDD1L_ENST00000439429.1_Missense_Mutation_p.Q478H	NM_153360.1	NP_699191.1	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated 1-like	467						integral component of membrane (GO:0016021)				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			ATGGCCTGTGCTGCGGTGGCC	0.632																																																0													62	60	60					20																	57035951		2203	4300	6503	SO:0001583	missense	164284			AK074647	CCDS13467.1	20q13.32	2006-07-07			ENSG00000198768	ENSG00000198768			26892	protein-coding gene	gene with protein product							Standard	NM_153360		Approved	FLJ90166	uc002xze.1	Q8NCL9	OTTHUMG00000032845	ENST00000371149.3:c.1401G>T	chr20.hg19:g.57035951C>A	ENSP00000360191:p.Gln467His			Missense_Mutation	SNP	ENST00000371149.3	hg19	CCDS13467.1	.	.	.	.	.	.	.	.	.	.	C	7.052	0.564739	0.13498	.	.	ENSG00000198768	ENST00000371149;ENST00000439429	T;T	0.14516	2.51;2.5	3.68	-4.72	0.03269	.	1.125310	0.06733	U	0.777012	T	0.06917	0.0176	N	0.24115	0.695	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.37663	-0.9696	10	0.41790	T	0.15	.	0.9016	0.01275	0.4548:0.1971:0.1255:0.2226	.	478;467	F5H6V6;Q8NCL9	.;APCDL_HUMAN	H	467;478	ENSP00000360191:Q467H;ENSP00000413261:Q478H	ENSP00000360191:Q467H	Q	-	3	2	APCDD1L	56469357	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.983000	0.03759	-1.079000	0.03113	-0.657000	0.03884	CAG		0.632	APCDD1L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000079881.2	NM_153360		A	57035951	C	A	57035951	3	1	684	1	0	0	0	0	1	0	0	0	766	796	28	4	108	4	APCDD1L	20	57035951	Missense_Mutation	SNP	C	TCGA-IA-A83W-01A-11D-A34Z-10		57035951	5989569	52	37816											
N6AMT1	29104	hgsc.bcm.edu	37	21	30257571	30257571	+	Missense_Mutation	SNP	A	A	T			TCGA-IA-A83W-01A-11D-A34Z-10	TCGA-IA-A83W-11A-11D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b5bc3d4-904a-4ece-a4fb-4263014e4b39	da2fe768-0f46-492c-99cc-6b417fd4a40c	g.chr21:30257571A>T	ENST00000303775.5	-	1	122	c.97T>A	c.(97-99)Ttg>Atg	p.L33M	N6AMT1_ENST00000351429.3_Missense_Mutation_p.L33M	NM_013240.4	NP_037372	Q9Y5N5	HEMK2_HUMAN	N-6 adenine-specific DNA methyltransferase 1 (putative)	33					positive regulation of cell growth (GO:0030307)|protein methylation (GO:0006479)	protein complex (GO:0043234)	nucleic acid binding (GO:0003676)|protein methyltransferase activity (GO:0008276)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)	12						AGCGCGTTCAAAAGCAGAAAC	0.657																																																0													53	63	60					21																	30257571		2202	4296	6498	SO:0001583	missense	29104			AF139682	CCDS33525.1, CCDS33526.1	21q21.3	2006-12-14	2006-12-14	2006-12-14	ENSG00000156239	ENSG00000156239	2.1.1.72		16021	protein-coding gene	gene with protein product		614553	"chromosome 21 open reading frame 127", "HemK methyltransferase family member 2"	C21orf127, HEMK2			Standard	NM_013240		Approved	PRED28, N6AMT, MTQ2	uc002ymo.2	Q9Y5N5	OTTHUMG00000078750	ENST00000303775.5:c.97T>A	chr21.hg19:g.30257571A>T	ENSP00000303584:p.Leu33Met		Q96F73	Missense_Mutation	SNP	ENST00000303775.5	hg19	CCDS33526.1	.	.	.	.	.	.	.	.	.	.	A	10.81	1.454935	0.26161	.	.	ENSG00000156239	ENST00000303775;ENST00000351429	T;T	0.19806	2.37;2.12	5.18	0.254	0.15557	Methyltransferase small (1);	0.142986	0.49305	D	0.000141	T	0.15652	0.0377	L	0.39020	1.185	0.35178	D	0.772183	B;P	0.35944	0.295;0.529	B;B	0.38921	0.101;0.285	T	0.16012	-1.0417	10	0.46703	T	0.11	-9.2302	7.7917	0.29125	0.4453:0.0:0.5547:0.0	.	33;33	Q9Y5N5-2;Q9Y5N5	.;HEMK2_HUMAN	M	33	ENSP00000303584:L33M;ENSP00000286764:L33M	ENSP00000303584:L33M	L	-	1	2	N6AMT1	29179442	0.997000	0.39634	0.967000	0.41034	0.171000	0.22731	1.076000	0.30729	0.096000	0.17463	-1.013000	0.02462	TTG		0.657	N6AMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171738.1	NM_013240		T	30257571	A	T	30257571	3	4	684	1	0	0	0	0	1	0	0	0	10116	11	1	5	571	5	N6AMT1	21	30257571	Missense_Mutation	SNP	A	TCGA-IA-A83W-01A-11D-A34Z-10		30257571	17872324	53	37817											
KIAA1614	57710	hgsc.bcm.edu	37	1	180885553	180885553	+	Missense_Mutation	SNP	C	C	T			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr1:180885553C>T	ENST00000367588.4	+	2	369	c.314C>T	c.(313-315)tCt>tTt	p.S105F		NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	105										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						AGTCCCTGCTCTGCTTCCCAA	0.587																																																0													80	89	86					1																	180885553		2038	4181	6219	SO:0001583	missense	57710			AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.314C>T	chr1.hg19:g.180885553C>T	ENSP00000356560:p.Ser105Phe		Q5VZ45|Q9HCF8	Missense_Mutation	SNP	ENST00000367588.4	hg19	CCDS41442.1	.	.	.	.	.	.	.	.	.	.	C	9.289	1.050241	0.19827	.	.	ENSG00000135835	ENST00000367588	T	0.05580	3.42	4.87	1.69	0.24217	.	1.482150	0.04336	N	0.353230	T	0.03695	0.0105	N	0.08118	0	0.29690	N	0.841037	B	0.23735	0.09	B	0.20955	0.032	T	0.40905	-0.9538	9	0.37606	T	0.19	-0.5476	3.0596	0.06195	0.2088:0.5355:0.0:0.2557	.	105	Q5VZ46	K1614_HUMAN	F	105	ENSP00000356560:S105F	ENSP00000356560:S105F	S	+	2	0	KIAA1614	179152176	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.043000	0.13971	0.143000	0.18926	0.655000	0.94253	TCT		0.587	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	XM_046531		T	180885553	C	T	180885553	3	4	685	1	0	0	0	0	1	0	0	0	8250	913	32	2	320	2	KIAA1614	1	180885553	Missense_Mutation	SNP	C	TCGA-IZ-8195-01A-31D-2396-08		180885553	68365068	1	37818											
C1orf25	81627	hgsc.bcm.edu	37	1	185094118	185094118	+	Missense_Mutation	SNP	T	T	A			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr1:185094118T>A	ENST00000367506.5	-	12	1985	c.1717A>T	c.(1717-1719)Agt>Tgt	p.S573C	TRMT1L_ENST00000367504.3_3'UTR	NM_001202423.1|NM_030934.4	NP_001189352.1|NP_112196.3	Q7Z2T5	TRM1L_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)-like	573	Trm1 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00958}.				adult locomotory behavior (GO:0008344)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						GAAAACTGACTTTGAGGCGTA	0.358																																																0													143	134	137					1																	185094118		2203	4300	6503	SO:0001583	missense	81627			AF288399	CCDS1366.1	1q25.2	2012-06-29	2012-06-29	2011-01-24	ENSG00000121486	ENSG00000121486			16782	protein-coding gene	gene with protein product	"TRM1-like"	611673	"chromosome 1 open reading frame 25", "TRM1 tRNA methyltransferase 1-like"	C1orf25		11318611, 17198746	Standard	NM_030934		Approved		uc001grf.4	Q7Z2T5	OTTHUMG00000035389	ENST00000367506.5:c.1717A>T	chr1.hg19:g.185094118T>A	ENSP00000356476:p.Ser573Cys		Q5TEN0|Q6ZMX0|Q8IWH5|Q8NC68|Q9BZQ1	Missense_Mutation	SNP	ENST00000367506.5	hg19	CCDS1366.1	.	.	.	.	.	.	.	.	.	.	T	18.22	3.575763	0.65878	.	.	ENSG00000121486	ENST00000367506;ENST00000458395	.	.	.	4.79	4.79	0.61399	.	0.178960	0.64402	D	0.000016	T	0.44829	0.1312	N	0.08118	0	0.80722	D	1	D	0.56287	0.975	P	0.53689	0.732	T	0.49818	-0.8899	9	0.38643	T	0.18	-18.1595	14.6174	0.68558	0.0:0.0:0.0:1.0	.	573	Q7Z2T5	TRM1L_HUMAN	C	573;197	.	ENSP00000356476:S573C	S	-	1	0	TRMT1L	183360741	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	6.348000	0.73009	1.935000	0.56089	0.477000	0.44152	AGT		0.358	TRMT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085787.1	NM_030934		A	185094118	T	A	185094118	3	1	685	1	0	0	0	0	1	0	0	0	2036	1609	56	5	500	5	C1orf25	1	185094118	Missense_Mutation	SNP	T	TCGA-IZ-8195-01A-31D-2396-08	4208565	185094118	64156503	2	37819											
C1orf150	148823	hgsc.bcm.edu	37	1	247737622	247737622	+	Missense_Mutation	SNP	T	T	C			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr1:247737622T>C	ENST00000366488.4	+	5	450	c.346T>C	c.(346-348)Tct>Cct	p.S116P	RP11-978I15.10_ENST00000446347.1_RNA|GCSAML_ENST00000536561.1_Missense_Mutation_p.S96P|GCSAML_ENST00000366491.2_Missense_Mutation_p.S96P|GCSAML_ENST00000527541.1_Missense_Mutation_p.S84P|RP11-978I15.10_ENST00000435333.1_RNA|GCSAML_ENST00000527084.1_Missense_Mutation_p.S84P|GCSAML_ENST00000463359.1_Missense_Mutation_p.S84P|GCSAML_ENST00000366489.1_Missense_Mutation_p.S96P	NM_001281836.1|NM_001281837.1|NM_001281853.1|NM_145278.3	NP_001268765.1|NP_001268766.1|NP_001268782.1|NP_660321.1	Q5JQS6	GSAML_HUMAN	germinal center-associated, signaling and motility-like	116																	TCTTAGGACTTCTGTTAGTAG	0.433																																																0													154	129	137					1																	247737622		2203	4300	6503	SO:0001583	missense	148823			AK126682	CCDS1635.1, CCDS60470.1, CCDS73058.1	1q44	2012-08-23	2012-08-23	2012-08-23	ENSG00000169224	ENSG00000169224			29583	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 150"	C1orf150			Standard	NM_001281834		Approved	FLJ44728	uc001idf.3	Q5JQS6	OTTHUMG00000040648	ENST00000366488.4:c.346T>C	chr1.hg19:g.247737622T>C	ENSP00000355444:p.Ser116Pro		B2R4Y5|B3KX46|Q5JQT3	Missense_Mutation	SNP	ENST00000366488.4	hg19	CCDS1635.1	.	.	.	.	.	.	.	.	.	.	T	10.44	1.350166	0.24512	.	.	ENSG00000169224	ENST00000527084;ENST00000527541;ENST00000366491;ENST00000366489;ENST00000463359;ENST00000366488;ENST00000536561	.	.	.	3.91	2.73	0.32206	.	1.484660	0.04639	N	0.405118	T	0.28830	0.0715	L	0.34521	1.04	0.09310	N	1	P	0.47677	0.899	P	0.45099	0.469	T	0.12091	-1.0561	9	0.02654	T	1	-1.0246	7.2357	0.26067	0.0:0.0:0.2272:0.7728	.	116	Q5JQS6	CA150_HUMAN	P	84;84;96;96;84;116;96	.	ENSP00000355444:S116P	S	+	1	0	C1orf150	245804245	0.001000	0.12720	0.001000	0.08648	0.338000	0.28826	0.818000	0.27295	0.638000	0.30545	0.482000	0.46254	TCT		0.433	GCSAML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097745.4	NM_145278		C	247737622	T	C	247737622	3	2	685	1	0	0	0	0	1	0	0	0	2006	1783	62	3	364	3	C1orf150	1	247737622	Missense_Mutation	SNP	T	TCGA-IZ-8195-01A-31D-2396-08	62643504	247737622	1512999	3	37820											
OR2M2	391194	hgsc.bcm.edu	37	1	248344277	248344277	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr1:248344277delA	ENST00000359682.2	+	1	990	c.990delA	c.(988-990)atafs	p.I330fs		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	330						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)			TCTTTCTAATATCCATCTTTT	0.318																																																0													164	175	171					1																	248344277		2203	4300	6503	SO:0001589	frameshift_variant	391194			AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"GPCR / Class A : Olfactory receptors"	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.990delA	chr1.hg19:g.248344277delA	ENSP00000352710:p.Ile330fs		A3KFT4	Frame_Shift_Del	DEL	ENST00000359682.2	hg19	CCDS31106.1																																																																																				0.318	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		-	248344277	A	-	248344277	7	5	685	1	0	1	0	1	0	0	0	0	11012	439	16	0	992	0	OR2M2	1	248344277	Frame_Shift_Del	DEL	A	TCGA-IZ-8195-01A-31D-2396-08	606655	248344277	906344	4	37821											
ASAP2	8853	hgsc.bcm.edu	37	2	9528579	9528579	+	Missense_Mutation	SNP	T	T	C			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr2:9528579T>C	ENST00000281419.3	+	22	2627	c.2287T>C	c.(2287-2289)Tac>Cac	p.Y763H	ASAP2_ENST00000491413.1_3'UTR|ASAP2_ENST00000315273.4_Missense_Mutation_p.Y763H	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	763					positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						GAATGAGACTTACGGAGCCCT	0.597																																																0													45	50	48					2																	9528579		2203	4300	6503	SO:0001583	missense	8853			AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	2721	protein-coding gene	gene with protein product	"centaurin, beta 3"	603817	"development and differentiation enhancing factor 2"	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.2287T>C	chr2.hg19:g.9528579T>C	ENSP00000281419:p.Tyr763His		D6W4Y8	Missense_Mutation	SNP	ENST00000281419.3	hg19	CCDS1661.1	.	.	.	.	.	.	.	.	.	.	T	19.33	3.806023	0.70682	.	.	ENSG00000151693	ENST00000281419;ENST00000315273	T;T	0.57436	0.41;0.4	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.66137	0.2759	L	0.49778	1.585	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.85130	0.997;0.915	T	0.61724	-0.7004	10	0.23891	T	0.37	.	15.7424	0.77910	0.0:0.0:0.0:1.0	.	763;763	O43150-2;O43150	.;ASAP2_HUMAN	H	763	ENSP00000281419:Y763H;ENSP00000316404:Y763H	ENSP00000281419:Y763H	Y	+	1	0	ASAP2	9446030	1.000000	0.71417	0.081000	0.20488	0.971000	0.66376	7.614000	0.82996	2.118000	0.64928	0.459000	0.35465	TAC		0.597	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000237522.1	NM_003887		C	9528579	T	C	9528579	3	2	685	1	0	0	0	0	1	0	0	0	1011	1754	61	3	2373	3	ASAP2	2	9528579	Missense_Mutation	SNP	T	TCGA-IZ-8195-01A-31D-2396-08		9528579	233670794	5	37822											
SLC4A1AP	22950	hgsc.bcm.edu	37	2	27888159	27888159	+	Missense_Mutation	SNP	A	A	G			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr2:27888159A>G	ENST00000326019.6	+	2	1300	c.1018A>G	c.(1018-1020)Atg>Gtg	p.M340V	SUPT7L_ENST00000337768.5_5'Flank|SUPT7L_ENST00000405491.1_5'Flank|SUPT7L_ENST00000406540.1_5'Flank|SUPT7L_ENST00000404798.2_5'Flank|SUPT7L_ENST00000464789.2_5'Flank	NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	340						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)					CACCTGGGGAATGGGTAAGAA	0.388																																																0													133	138	136					2																	27888159		2203	4300	6503	SO:0001583	missense	22950				CCDS33166.1	2p23.3	2010-03-11	2001-11-28		ENSG00000163798	ENSG00000163798			13813	protein-coding gene	gene with protein product	"lung cancer oncogene 3"	602655	"solute carrier family 4 (anion exchanger), member 1, adapter protein"			9422766	Standard	NM_018158		Approved	kanadaptin, HLC3	uc002rlk.4	Q9BWU0	OTTHUMG00000151944	ENST00000326019.6:c.1018A>G	chr2.hg19:g.27888159A>G	ENSP00000323837:p.Met340Val		A6NJ39|Q4KMT1|Q4KMX0|Q7Z5Q9|Q9NVN2	Missense_Mutation	SNP	ENST00000326019.6	hg19	CCDS33166.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.135945	0.77662	.	.	ENSG00000163798	ENST00000326019	T	0.51574	0.7	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.58921	0.2156	M	0.84948	2.725	0.80722	D	1	P	0.42010	0.768	B	0.43386	0.418	T	0.67821	-0.5571	10	0.72032	D	0.01	-17.2495	15.2303	0.73383	1.0:0.0:0.0:0.0	.	340	Q9BWU0	NADAP_HUMAN	V	340	ENSP00000323837:M340V	ENSP00000323837:M340V	M	+	1	0	SLC4A1AP	27741663	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.617000	0.74210	1.995000	0.58328	0.379000	0.24179	ATG		0.388	SLC4A1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324550.1	NM_018158		G	27888159	A	G	27888159	3	3	685	1	0	0	0	0	1	0	0	0	14659	101	4	3	1024	3	SLC4A1AP	2	27888159	Missense_Mutation	SNP	A	TCGA-IZ-8195-01A-31D-2396-08	18359580	27888159	215311214	6	37823											
GPR75	10936	hgsc.bcm.edu	37	2	54080607	54080607	+	Silent	SNP	A	A	G			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr2:54080607A>G	ENST00000394705.2	-	2	1557	c.1287T>C	c.(1285-1287)tcT>tcC	p.S429S	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	429					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)			ACATGTAGGCAGAGTTTGTTT	0.448																																																0													122	122	122					2																	54080607		2203	4300	6503	SO:0001819	synonymous_variant	10936			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.1287T>C	chr2.hg19:g.54080607A>G			B2RC02|Q6NWR2	Silent	SNP	ENST00000394705.2	hg19	CCDS1849.1																																																																																				0.448	GPR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251403.2			G	54080607	A	G	54080607	2	3	685	1	0	0	0	0	0	0	0	1	6710	175	7	3		3	GPR75	2	54080607	Silent	SNP	A	TCGA-IZ-8195-01A-31D-2396-08	26192448	54080607	189118766	7	37824											
USP39	10713	hgsc.bcm.edu	37	2	85875075	85875075	+	Nonsense_Mutation	SNP	T	T	G			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr2:85875075T>G	ENST00000323701.6	+	12	1596	c.1586T>G	c.(1585-1587)tTa>tGa	p.L529*	USP39_ENST00000409766.3_Missense_Mutation_p.Y484D|USP39_ENST00000450066.2_Nonsense_Mutation_p.L426*|USP39_ENST00000409470.1_Nonsense_Mutation_p.L529*|USP39_ENST00000459775.1_3'UTR|USP39_ENST00000409025.1_Intron	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39	529	USP.				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						TGGTATGAATTACAAGACCTC	0.478																																																0													98	91	93					2																	85875075		2203	4300	6503	SO:0001587	stop_gained	10713			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.1586T>G	chr2.hg19:g.85875075T>G	ENSP00000312981:p.Leu529*		A8K086|B3KM40|B4DHT4|D6W5L4|G5E9H0|Q6NX47|Q96RK9|Q9BV89|Q9H381|Q9P050|Q9Y310	Nonsense_Mutation	SNP	ENST00000323701.6	hg19	CCDS33234.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	37|37	6.533352|6.533352	0.97641|0.97641	.|.	.|.	ENSG00000168883|ENSG00000168883	ENST00000450066;ENST00000409268;ENST00000409470;ENST00000323701|ENST00000409766	.|T	.|0.19105	.|2.17	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	0.065227|.	0.56097|.	D|.	0.000040|.	.|T	.|0.21145	.|0.0509	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|B	.|0.21905	.|0.062	.|B	.|0.21360	.|0.034	.|T	.|0.16129	.|-1.0413	.|7	0.14252|0.87932	T|D	0.57|0	-7.4979|-7.4979	14.3391|14.3391	0.66614|0.66614	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|484	.|G5E9H0	.|.	X|D	426;466;529;529|484	.|ENSP00000386803:Y484D	ENSP00000312981:L529X|ENSP00000386803:Y484D	L|Y	+|+	2|1	0|0	USP39|USP39	85728586|85728586	1.000000|1.000000	0.71417|0.71417	0.977000|0.977000	0.42913|0.42913	0.995000|0.995000	0.86356|0.86356	7.252000|7.252000	0.78309|0.78309	2.265000|2.265000	0.75225|0.75225	0.533000|0.533000	0.62120|0.62120	TTA|TAC		0.478	USP39-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329892.1	NM_006590		G	85875075	T	G	85875075	4	3	685	1	0	0	0	0	0	1	0	0	17075	1764	61	5	1632	5	USP39	2	85875075	Nonsense_Mutation	SNP	T	TCGA-IZ-8195-01A-31D-2396-08	31794468	85875075	157324298	8	37825											
MBD5	55777	hgsc.bcm.edu	37	2	149248040	149248040	+	Silent	SNP	A	A	C			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr2:149248040A>C	ENST00000407073.1	+	12	5137	c.4140A>C	c.(4138-4140)ccA>ccC	p.P1380P	MBD5_ENST00000404807.1_Silent_p.P1613P	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1380					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)		ATTATAGACCAAGGACGTTCA	0.453																																																0													77	78	78					2																	149248040		2203	4300	6503	SO:0001819	synonymous_variant	55777			AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.4140A>C	chr2.hg19:g.149248040A>C			A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Silent	SNP	ENST00000407073.1	hg19	CCDS33302.1																																																																																				0.453	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2			C	149248040	A	C	149248040	2	2	685	1	0	0	0	0	0	0	0	1	9349	117	5	5		5	MBD5	2	149248040	Silent	SNP	A	TCGA-IZ-8195-01A-31D-2396-08	63372965	149248040	93951333	9	37826											
PAX3	5077	hgsc.bcm.edu	37	2	223066673	223066673	+	Silent	SNP	C	C	T			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr2:223066673C>T	ENST00000350526.4	-	8	1546	c.1410G>A	c.(1408-1410)caG>caA	p.Q470Q	PAX3_ENST00000392069.2_Silent_p.Q470Q|PAX3_ENST00000464706.1_5'Flank|PAX3_ENST00000344493.4_Intron|PAX3_ENST00000336840.6_Intron|PAX3_ENST00000409551.3_Silent_p.Q469Q|PAX3_ENST00000392070.2_Silent_p.Q470Q	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	470					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|mammary gland specification (GO:0060594)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of somitogenesis (GO:0014807)|sensory perception of sound (GO:0007605)|spinal cord association neuron differentiation (GO:0021527)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTTGTCCATACTGCCCATATT	0.468			T	"FOXO1A, NCOA1"	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome																																Dom	yes		2	2q35	5077	paired box gene 3	yes	M	0													99	93	95					2																	223066673		2203	4300	6503	SO:0001819	synonymous_variant	5077				CCDS2449.1, CCDS2450.1, CCDS2451.1, CCDS42825.1, CCDS2448.1, CCDS42826.1, CCDS46522.1, CCDS46523.1	2q36.1	2011-06-20	2007-07-12		ENSG00000135903	ENSG00000135903		"Paired boxes", "Homeoboxes / PRD class"	8617	protein-coding gene	gene with protein product		606597	"Waardenburg syndrome 1", "paired box gene 3 (Waardenburg syndrome 1)"	WS1		1347149	Standard	NM_181461		Approved	HUP2	uc002vmt.2	P23760	OTTHUMG00000133157	ENST00000350526.4:c.1410G>A	chr2.hg19:g.223066673C>T			G5E9C1|Q16448|Q494Z3|Q494Z4|Q53T90|Q6GSJ9|Q86UQ2|Q86UQ3	Silent	SNP	ENST00000350526.4	hg19	CCDS42826.1																																																																																				0.468	PAX3-006	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328670.1			T	223066673	C	T	223066673	2	4	685	1	0	0	0	0	0	0	0	1	11482	564	20	2		2	PAX3	2	223066673	Silent	SNP	C	TCGA-IZ-8195-01A-31D-2396-08	73818633	223066673	20132700	10	37827											
CELSR3	1951	hgsc.bcm.edu	37	3	48690562	48690562	+	Missense_Mutation	SNP	A	A	C			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr3:48690562A>C	ENST00000164024.4	-	10	5787	c.5507T>G	c.(5506-5508)cTc>cGc	p.L1836R	CELSR3_ENST00000544264.1_Missense_Mutation_p.L1836R	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1836	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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)		GTCCAGAAGGAGATGGGAAGC	0.622																																																0													69	59	62					3																	48690562		2203	4300	6503	SO:0001583	missense	1951			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3230	protein-coding gene	gene with protein product	"flamingo homolog 1 (Drosophila)"	604264	"cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.5507T>G	chr3.hg19:g.48690562A>C	ENSP00000164024:p.Leu1836Arg		O75092	Missense_Mutation	SNP	ENST00000164024.4	hg19	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.699442	0.88830	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	D;D	0.81821	-1.54;-1.54	5.33	5.33	0.75918	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	D	0.88584	0.6476	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.97110	0.988;1.0	D	0.88600	0.3149	9	0.45353	T	0.12	.	15.3149	0.74065	1.0:0.0:0.0:0.0	.	1836;1906	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	R	1836	ENSP00000164024:L1836R;ENSP00000445694:L1836R	ENSP00000164024:L1836R	L	-	2	0	CELSR3	48665566	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	8.549000	0.90672	2.026000	0.59711	0.460000	0.39030	CTC		0.622	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		C	48690562	A	C	48690562	3	2	685	1	0	0	0	0	1	0	0	0	3225	304	11	5	4535	5	CELSR3	3	48690562	Missense_Mutation	SNP	A	TCGA-IZ-8195-01A-31D-2396-08		48690562	149331868	11	37828											
COL6A6	131873	hgsc.bcm.edu	37	3	130292932	130292932	+	Missense_Mutation	SNP	T	T	A			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr3:130292932T>A	ENST00000358511.6	+	7	3141	c.3110T>A	c.(3109-3111)gTg>gAg	p.V1037E	COL6A6_ENST00000453409.2_Missense_Mutation_p.V1037E	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1037	Nonhelical region.|VWFA 6. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CTCAACAGAGTGCGAATAGGA	0.418																																																0													67	62	64					3																	130292932		1868	4100	5968	SO:0001583	missense	131873			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"Collagens"	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.3110T>A	chr3.hg19:g.130292932T>A	ENSP00000351310:p.Val1037Glu		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	hg19	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	T	15.98	2.993314	0.54041	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.85171	-1.95;-1.95	5.15	3.99	0.46301	von Willebrand factor, type A (3);	0.000000	0.52532	D	0.000074	D	0.92596	0.7648	M	0.92784	3.345	0.38839	D	0.956029	D	0.58268	0.982	P	0.62740	0.906	D	0.93390	0.6751	10	0.66056	D	0.02	.	10.6799	0.45809	0.0:0.0762:0.0:0.9238	.	1037	A6NMZ7	CO6A6_HUMAN	E	1037	ENSP00000351310:V1037E;ENSP00000399236:V1037E	ENSP00000351310:V1037E	V	+	2	0	COL6A6	131775622	0.928000	0.31464	0.677000	0.29947	0.260000	0.26232	3.286000	0.51724	0.919000	0.36945	0.459000	0.35465	GTG		0.418	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		A	130292932	T	A	130292932	3	1	685	1	0	0	0	0	1	0	0	0	3705	1696	59	5	3136	5	COL6A6	3	130292932	Missense_Mutation	SNP	T	TCGA-IZ-8195-01A-31D-2396-08	81602370	130292932	67729498	12	37829											
LRPAP1	4043	hgsc.bcm.edu	37	4	3519768	3519768	+	Silent	SNP	A	A	G			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr4:3519768A>G	ENST00000500728.2	-	5	890	c.744T>C	c.(742-744)acT>acC	p.T248T	LRPAP1_ENST00000296325.5_5'UTR	NM_002337.3	NP_002328.1	P30533	AMRP_HUMAN	low density lipoprotein receptor-related protein associated protein 1	248	LDL receptor binding. {ECO:0000255}.				extracellular negative regulation of signal transduction (GO:1900116)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of protein binding (GO:0032091)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|protein folding (GO:0006457)|receptor-mediated endocytosis (GO:0006898)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|rough endoplasmic reticulum lumen (GO:0048237)|vesicle (GO:0031982)	asialoglycoprotein receptor activity (GO:0004873)|heparin binding (GO:0008201)|low-density lipoprotein particle receptor binding (GO:0050750)|receptor antagonist activity (GO:0048019)|unfolded protein binding (GO:0051082)|very-low-density lipoprotein particle receptor binding (GO:0070326)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)		CACCAGCCTCAGTGCTGTAGC	0.657																																																0													40	37	38					4																	3519768		2203	4300	6503	SO:0001819	synonymous_variant	4043				CCDS3371.1	4p16.3	2008-05-02	2003-03-17		ENSG00000163956	ENSG00000163956			6701	protein-coding gene	gene with protein product		104225	"low density lipoprotein-related protein-associated protein 1 (alpha-2-macroglobulin receptor-associated protein 1)"	A2MRAP		1712782	Standard	NM_002337		Approved	HBP44	uc003ghh.4	P30533	OTTHUMG00000090299	ENST00000500728.2:c.744T>C	chr4.hg19:g.3519768A>G			D3DVR9|Q2M310|Q53HQ3|Q53HS6	Silent	SNP	ENST00000500728.2	hg19	CCDS3371.1																																																																																				0.657	LRPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206659.4			G	3519768	A	G	3519768	2	3	685	1	0	0	0	0	0	0	0	1	8966	175	7	3		3	LRPAP1	4	3519768	Silent	SNP	A	TCGA-IZ-8195-01A-31D-2396-08		3519768	187634508	13	37830											
TBC1D19	55296	hgsc.bcm.edu	37	4	26737100	26737100	+	Missense_Mutation	SNP	T	T	A			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr4:26737100T>A	ENST00000264866.4	+	16	1386	c.1108T>A	c.(1108-1110)Tca>Aca	p.S370T	TBC1D19_ENST00000511789.1_Missense_Mutation_p.S305T	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	370	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						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)				TCATGGATTTTCAATGTATGG	0.264																																																0													40	36	38					4																	26737100		2186	4257	6443	SO:0001583	missense	55296			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.1108T>A	chr4.hg19:g.26737100T>A	ENSP00000264866:p.Ser370Thr		B9A6M0|Q9NUX1	Missense_Mutation	SNP	ENST00000264866.4	hg19	CCDS3439.1	.	.	.	.	.	.	.	.	.	.	T	7.982	0.751339	0.15778	.	.	ENSG00000109680	ENST00000264866;ENST00000511789	T;T	0.12361	2.69;2.69	5.7	5.7	0.88788	Rab-GAP/TBC domain (3);	0.000000	0.85682	D	0.000000	T	0.21801	0.0525	L	0.31065	0.9	0.80722	D	1	B;D;D	0.53885	0.013;0.963;0.963	B;D;D	0.69824	0.02;0.966;0.966	T	0.01879	-1.1255	10	0.02654	T	1	-10.0854	15.9517	0.79843	0.0:0.0:0.0:1.0	.	305;370;370	B9A6M0;A8K0R6;Q8N5T2	.;.;TBC19_HUMAN	T	370;305	ENSP00000264866:S370T;ENSP00000425569:S305T	ENSP00000264866:S370T	S	+	1	0	TBC1D19	26346198	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.742000	0.74843	2.172000	0.68678	0.519000	0.50382	TCA		0.264	TBC1D19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215052.2	NM_018317		A	26737100	T	A	26737100	3	1	685	1	0	0	0	0	1	0	0	0	15612	1783	62	5	1170	5	TBC1D19	4	26737100	Missense_Mutation	SNP	T	TCGA-IZ-8195-01A-31D-2396-08	23217332	26737100	164417176	14	37831											
AFF1	4299	hgsc.bcm.edu	37	4	88029381	88029381	+	Missense_Mutation	SNP	G	G	T			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr4:88029381G>T	ENST00000307808.6	+	10	1846	c.1426G>T	c.(1426-1428)Gac>Tac	p.D476Y	AFF1_ENST00000395146.4_Missense_Mutation_p.D483Y|AFF1_ENST00000544085.1_Missense_Mutation_p.D114Y	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	476					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		AAGCACCAGTGACTCAGACAG	0.512																																																0													114	104	108					4																	88029381		2203	4300	6503	SO:0001583	missense	4299			L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2", "pre-B-cell monocytic leukemia partner 1"	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.1426G>T	chr4.hg19:g.88029381G>T	ENSP00000305689:p.Asp476Tyr		B4DTU1|E9PBM3	Missense_Mutation	SNP	ENST00000307808.6	hg19	CCDS3616.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.164359	0.78339	.	.	ENSG00000172493	ENST00000395146;ENST00000307808;ENST00000511722;ENST00000544085;ENST00000514970	T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22	5.5	5.5	0.81552	.	0.131246	0.52532	D	0.000065	T	0.80319	0.4601	L	0.59436	1.845	0.54753	D	0.999987	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.72338	0.977;0.977;0.977	T	0.80761	-0.1238	10	0.66056	D	0.02	-14.424	19.7664	0.96346	0.0:0.0:1.0:0.0	.	483;476;476	E9PBM3;Q14C88;P51825	.;.;AFF1_HUMAN	Y	483;476;114;114;167	ENSP00000378578:D483Y;ENSP00000305689:D476Y;ENSP00000424766:D114Y;ENSP00000440843:D114Y;ENSP00000424881:D167Y	ENSP00000305689:D476Y	D	+	1	0	AFF1	88248405	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.723000	0.91458	2.735000	0.93741	0.655000	0.94253	GAC		0.512	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	NM_005935		T	88029381	G	T	88029381	3	4	685	1	0	0	0	0	1	0	0	0	356	1290	45	4	1506	4	AFF1	4	88029381	Missense_Mutation	SNP	G	TCGA-IZ-8195-01A-31D-2396-08	61292281	88029381	103124895	15	37832											
SEC24B	10427	hgsc.bcm.edu	37	4	110415933	110415933	+	Missense_Mutation	SNP	A	A	G			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr4:110415933A>G	ENST00000265175.5	+	6	1464	c.1409A>G	c.(1408-1410)tAt>tGt	p.Y470C	SEC24B_ENST00000504968.2_Missense_Mutation_p.Y501C|SEC24B_ENST00000399100.2_Missense_Mutation_p.Y435C	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	470					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)		CAGCCTGGTTATCAGAATGCT	0.473																																																0													116	117	117					4																	110415933		2080	4262	6342	SO:0001583	missense	10427			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.1409A>G	chr4.hg19:g.110415933A>G	ENSP00000265175:p.Tyr470Cys		B7ZKM8|B7ZKN4|Q0VG08	Missense_Mutation	SNP	ENST00000265175.5	hg19	CCDS47124.1	.	.	.	.	.	.	.	.	.	.	A	19.06	3.754236	0.69648	.	.	ENSG00000138802	ENST00000504968;ENST00000399100;ENST00000265175	T;T;T	0.23754	1.89;1.89;1.89	5.47	5.47	0.80525	.	.	.	.	.	T	0.48943	0.1528	M	0.65975	2.015	0.54753	D	0.999987	D;P;D;D;D	0.89917	0.997;0.951;1.0;0.998;1.0	D;P;D;D;D	0.81914	0.926;0.759;0.995;0.947;0.995	T	0.50849	-0.8779	9	0.72032	D	0.01	2.3658	13.7816	0.63085	1.0:0.0:0.0:0.0	.	385;69;501;435;470	B4DTM6;B4E2E1;B7ZKM8;O95487-2;O95487	.;.;.;.;SC24B_HUMAN	C	501;435;470	ENSP00000428564:Y501C;ENSP00000382051:Y435C;ENSP00000265175:Y470C	ENSP00000265175:Y470C	Y	+	2	0	SEC24B	110635382	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	6.401000	0.73256	2.064000	0.61679	0.533000	0.62120	TAT		0.473	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364693.2			G	110415933	A	G	110415933	3	3	685	1	0	0	0	0	1	0	0	0	14001	449	16	3	1431	3	SEC24B	4	110415933	Missense_Mutation	SNP	A	TCGA-IZ-8195-01A-31D-2396-08	22386552	110415933	80738343	16	37833											
TRIM2	23321	hgsc.bcm.edu	37	4	154215496	154215496	+	Missense_Mutation	SNP	A	A	T			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr4:154215496A>T	ENST00000437508.2	+	5	765	c.564A>T	c.(562-564)gaA>gaT	p.E188D	TRIM2_ENST00000494872.1_3'UTR|TRIM2_ENST00000338700.5_Missense_Mutation_p.E215D	NM_001130067.1	NP_001123539.1	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	188					cell death (GO:0008219)|regulation of neuron apoptotic process (GO:0043523)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		TCATCTCTGAAATCATTCATC	0.413																																																0													108	103	104					4																	154215496		2203	4300	6503	SO:0001583	missense	23321			AF220018	CCDS3781.2, CCDS47147.1	4q31.3	2013-01-09	2011-01-25		ENSG00000109654	ENSG00000109654		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	15974	protein-coding gene	gene with protein product		614141	"tripartite motif-containing 2"			9628581, 11331580	Standard	NM_015271		Approved	KIAA0517, RNF86	uc003inh.2	Q9C040	OTTHUMG00000155991	ENST00000437508.2:c.564A>T	chr4.hg19:g.154215496A>T	ENSP00000415812:p.Glu188Asp		D3DP09|O60272|Q9BSI9|Q9UFZ1	Missense_Mutation	SNP	ENST00000437508.2	hg19	CCDS47147.1	.	.	.	.	.	.	.	.	.	.	A	14.02	2.411858	0.42817	.	.	ENSG00000109654	ENST00000437508;ENST00000338700;ENST00000433687	T;T;T	0.71222	-0.54;-0.55;-0.23	6.17	5.0	0.66597	B-box, C-terminal (1);	0.041315	0.85682	D	0.000000	T	0.57829	0.2080	L	0.34521	1.04	0.54753	D	0.999982	B;B	0.12013	0.005;0.005	B;B	0.10450	0.005;0.005	T	0.50693	-0.8798	10	0.17369	T	0.5	-3.329	12.1877	0.54250	0.9342:0.0:0.0658:0.0	.	215;188	D3DP09;Q9C040	.;TRIM2_HUMAN	D	188;215;102	ENSP00000415812:E188D;ENSP00000339659:E215D;ENSP00000400375:E102D	ENSP00000339659:E215D	E	+	3	2	TRIM2	154434946	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	3.959000	0.56744	1.166000	0.42689	0.533000	0.62120	GAA		0.413	TRIM2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342652.1			T	154215496	A	T	154215496	3	4	685	1	0	0	0	0	1	0	0	0	16499	11	1	5	663	5	TRIM2	4	154215496	Missense_Mutation	SNP	A	TCGA-IZ-8195-01A-31D-2396-08	43799563	154215496	36938780	17	37834											
DCHS2	54798	hgsc.bcm.edu	37	4	155225827	155225827	+	Missense_Mutation	SNP	T	T	C			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr4:155225827T>C	ENST00000357232.4	-	17	4233	c.4234A>G	c.(4234-4236)Ata>Gta	p.I1412V		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1412	Cadherin 12. {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)		TTACCAATTATGTGATATTCA	0.418																																																0													59	58	59					4																	155225827		2203	4300	6503	SO:0001583	missense	54798			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.4234A>G	chr4.hg19:g.155225827T>C	ENSP00000349768:p.Ile1412Val		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	hg19	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	T	7.389	0.630312	0.14257	.	.	ENSG00000197410	ENST00000357232	T	0.58797	0.31	5.09	3.91	0.45181	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.69160	0.3080	M	0.74258	2.255	0.80722	D	1	D	0.57899	0.981	P	0.58077	0.832	T	0.70784	-0.4778	10	0.56958	D	0.05	.	10.979	0.47483	0.0:0.074:0.0:0.926	.	1412	Q6V1P9	PCD23_HUMAN	V	1412	ENSP00000349768:I1412V	ENSP00000349768:I1412V	I	-	1	0	DCHS2	155445277	0.984000	0.35163	0.546000	0.28166	0.036000	0.12997	2.011000	0.40922	0.883000	0.36040	0.460000	0.39030	ATA		0.418	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		C	155225827	T	C	155225827	3	2	685	1	0	0	0	0	1	0	0	0	4290	1464	51	3	4552	3	DCHS2	4	155225827	Missense_Mutation	SNP	T	TCGA-IZ-8195-01A-31D-2396-08	1010331	155225827	35928449	18	37835											
FAT1	2195	hgsc.bcm.edu	37	4	187539116	187539116	+	Missense_Mutation	SNP	A	A	G			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr4:187539116A>G	ENST00000441802.2	-	10	8833	c.8624T>C	c.(8623-8625)cTt>cCt	p.L2875P		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2875	Cadherin 26. {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						TTCATGGTCAAGTTCCTTTAA	0.418										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)											0													175	154	161					4																	187539116		1930	4152	6082	SO:0001583	missense	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.8624T>C	chr4.hg19:g.187539116A>G	ENSP00000406229:p.Leu2875Pro			Missense_Mutation	SNP	ENST00000441802.2	hg19	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	A	18.14	3.557734	0.65425	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.75154	-0.91	4.86	4.86	0.63082	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.90256	0.6953	H	0.96269	3.795	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.93285	0.6663	10	0.87932	D	0	.	14.9179	0.70812	1.0:0.0:0.0:0.0	.	2875	Q14517	FAT1_HUMAN	P	2875;2877	ENSP00000406229:L2875P	ENSP00000260147:L2877P	L	-	2	0	FAT1	187776110	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	9.139000	0.94554	2.167000	0.68274	0.528000	0.53228	CTT		0.418	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		G	187539116	A	G	187539116	3	3	685	1	0	0	0	0	1	0	0	0	5691	72	3	3	5214	3	FAT1	4	187539116	Missense_Mutation	SNP	A	TCGA-IZ-8195-01A-31D-2396-08	32313289	187539116	3615160	19	37836											
SLC6A19	340024	hgsc.bcm.edu	37	5	1219640	1219640	+	Missense_Mutation	SNP	T	T	C			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr5:1219640T>C	ENST00000304460.10	+	10	1455	c.1399T>C	c.(1399-1401)Ttc>Ctc	p.F467L		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	467					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)			CCTGGGGACATTCCTCATTGG	0.627																																																0													140	118	125					5																	1219640		2203	4300	6503	SO:0001583	missense	340024			AK096054	CCDS34130.1	5p15	2013-07-19			ENSG00000174358	ENSG00000174358		"Solute carriers"	27960	protein-coding gene	gene with protein product	"Hartnup disease"	608893					Standard	NM_001003841		Approved		uc003jbw.4	Q695T7	OTTHUMG00000161636	ENST00000304460.10:c.1399T>C	chr5.hg19:g.1219640T>C	ENSP00000305302:p.Phe467Leu		A8K446	Missense_Mutation	SNP	ENST00000304460.10	hg19	CCDS34130.1	.	.	.	.	.	.	.	.	.	.	T	8.371	0.835267	0.16820	.	.	ENSG00000174358	ENST00000304460	T	0.76316	-1.01	4.83	4.83	0.62350	.	0.341281	0.33691	N	0.004644	T	0.79311	0.4424	M	0.83603	2.65	0.09310	N	1	B	0.12630	0.006	B	0.17722	0.019	T	0.70128	-0.4957	10	0.41790	T	0.15	.	14.3784	0.66895	0.0:0.0:0.0:1.0	.	467	Q695T7	S6A19_HUMAN	L	467	ENSP00000305302:F467L	ENSP00000305302:F467L	F	+	1	0	SLC6A19	1272640	0.950000	0.32346	0.052000	0.19188	0.038000	0.13279	3.934000	0.56553	1.801000	0.52704	0.391000	0.25812	TTC		0.627	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365557.1	XM_291120		C	1219640	T	C	1219640	3	2	685	1	0	0	0	0	1	0	0	0	14688	1493	52	3	1437	3	SLC6A19	5	1219640	Missense_Mutation	SNP	T	TCGA-IZ-8195-01A-31D-2396-08		1219640	179695620	20	37837											
TRIO	7204	hgsc.bcm.edu	37	5	14497016	14497016	+	Missense_Mutation	SNP	C	C	A			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr5:14497016C>A	ENST00000344204.4	+	50	7933	c.7909C>A	c.(7909-7911)Cgt>Agt	p.R2637S	TRIO_ENST00000537187.1_Missense_Mutation_p.R2461S|TRIO_ENST00000344135.5_Missense_Mutation_p.R136S	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2637					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)					CACAGCACTCCGTTTAAGGAA	0.448																																																0													121	112	115					5																	14497016		2203	4300	6503	SO:0001583	missense	7204			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing"	12303	protein-coding gene	gene with protein product		601893	"triple functional domain (PTPRF interacting)"			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.7909C>A	chr5.hg19:g.14497016C>A	ENSP00000339299:p.Arg2637Ser		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	hg19	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.915239	0.92178	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000513206;ENST00000344135	T;T;T	0.71341	-0.56;-0.36;-0.53	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	D	0.82282	0.5003	M	0.65498	2.005	0.36519	D	0.87004	D	0.89917	1.0	D	0.79784	0.993	D	0.84372	0.0544	10	0.37606	T	0.19	.	16.8938	0.86094	0.0:1.0:0.0:0.0	.	2637	O75962	TRIO_HUMAN	S	2637;2461;2324;136	ENSP00000339299:R2637S;ENSP00000446348:R2461S;ENSP00000339291:R136S	ENSP00000339291:R136S	R	+	1	0	TRIO	14550016	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.596000	0.67570	2.414000	0.81942	0.655000	0.94253	CGT		0.448	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		A	14497016	C	A	14497016	3	1	685	1	0	0	0	0	1	0	0	0	16557	652	23	4	8107	4	TRIO	5	14497016	Missense_Mutation	SNP	C	TCGA-IZ-8195-01A-31D-2396-08	13277376	14497016	166418244	21	37838											
POLK	51426	hgsc.bcm.edu	37	5	74892358	74892358	+	Missense_Mutation	SNP	G	G	C			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr5:74892358G>C	ENST00000241436.4	+	13	2012	c.1840G>C	c.(1840-1842)Gag>Cag	p.E614Q	POLK_ENST00000352007.5_Missense_Mutation_p.E416Q|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000380481.3_Missense_Mutation_p.E524Q|POLK_ENST00000504026.1_Intron|CTC-366B18.2_ENST00000511329.1_RNA|POLK_ENST00000508526.1_Missense_Mutation_p.E416Q	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	614					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)		GGAAATATCAGAGAATTCAGA	0.368								DNA polymerases (catalytic subunits)																																								0													106	108	107					5																	74892358		2203	4300	6503	SO:0001583	missense	51426			AB027564	CCDS4030.1	5q13	2012-05-18			ENSG00000122008	ENSG00000122008		"DNA polymerases"	9183	protein-coding gene	gene with protein product	"polymerase (DNA-directed) kappa", "DINB protein", "DNA polymerase kappa"	605650		DINB1		10887153, 10518552	Standard	NM_016218		Approved	POLQ, DINP	uc003kdw.3	Q9UBT6	OTTHUMG00000102107	ENST00000241436.4:c.1840G>C	chr5.hg19:g.74892358G>C	ENSP00000241436:p.Glu614Gln		B2RBD2|Q5Q9G5|Q5Q9G6|Q5Q9G7|Q5Q9G8|Q86VJ8|Q8IZY0|Q8IZY1|Q8NB30|Q96L01|Q96Q86|Q96Q87|Q9UHC5	Missense_Mutation	SNP	ENST00000241436.4	hg19	CCDS4030.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.027552	0.54683	.	.	ENSG00000122008	ENST00000241436;ENST00000352007;ENST00000508526;ENST00000380481	T;T;T;T	0.58358	1.15;0.34;0.34;1.13	5.15	4.28	0.50868	.	0.893154	0.09986	N	0.730347	T	0.50480	0.1618	M	0.65498	2.005	0.22888	N	0.998601	B;B	0.28419	0.211;0.098	B;B	0.23275	0.045;0.021	T	0.43909	-0.9362	10	0.48119	T	0.1	-2.8619	9.5091	0.39065	0.0815:0.1534:0.7651:0.0	.	416;614	Q9UBT6-3;Q9UBT6	.;POLK_HUMAN	Q	614;416;416;524	ENSP00000241436:E614Q;ENSP00000342256:E416Q;ENSP00000426853:E416Q;ENSP00000369848:E524Q	ENSP00000241436:E614Q	E	+	1	0	POLK	74928114	0.025000	0.19082	0.097000	0.21041	0.978000	0.69477	0.423000	0.21313	1.148000	0.42385	0.655000	0.94253	GAG		0.368	POLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219945.3	NM_016218		C	74892358	G	C	74892358	3	2	685	1	0	0	0	0	1	0	0	0	12206	943	33	4	1886	4	POLK	5	74892358	Missense_Mutation	SNP	G	TCGA-IZ-8195-01A-31D-2396-08	60395342	74892358	106022902	22	37839											
MSH3	4437	hgsc.bcm.edu	37	5	80040402	80040402	+	Silent	SNP	G	G	A			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr5:80040402G>A	ENST00000265081.6	+	12	1811	c.1731G>A	c.(1729-1731)aaG>aaA	p.K577K	MSH3_ENST00000512258.1_3'UTR	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	577					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		GGAAGTTAAAGAAGTGGGTGA	0.338								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)											0													22	25	24					5																	80040402		2200	4295	6495	SO:0001819	synonymous_variant	4437			U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"Divergent upstream protein", "Mismatch repair protein 1"	600887	"mutS (E. coli) homolog 3", "mutS homolog 3 (E. coli)"				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.1731G>A	chr5.hg19:g.80040402G>A			A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Silent	SNP	ENST00000265081.6	hg19	CCDS34195.1																																																																																				0.338	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439		A	80040402	G	A	80040402	2	1	685	1	0	0	0	0	0	0	0	1	9873	933	33	2		2	MSH3	5	80040402	Silent	SNP	G	TCGA-IZ-8195-01A-31D-2396-08	5148044	80040402	100874858	23	37840											
DMXL1	1657	hgsc.bcm.edu	37	5	118500212	118500213	+	Frame_Shift_Ins	INS	-	-	AGTCATTT			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr5:118500212_118500213insAGTCATTT	ENST00000311085.8	+	20	4793_4794	c.4713_4714insAGTCATTT	c.(4714-4716)agtfs	p.-1572fs	DMXL1_ENST00000539542.1_Frame_Shift_Ins_p.-1572fs	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1											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)		GCCTGTCTACAAGTCATTTTGC	0.342																																																0																																										SO:0001589	frameshift_variant	1657			AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"WD repeat domain containing"	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.4714_4721dupAGTCATTT	chr5.hg19:g.118500213_118500220dupAGTCATTT	ENSP00000309690:p.Ser1572fs			Frame_Shift_Ins	INS	ENST00000311085.8	hg19	CCDS4125.1																																																																																				0.342	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		AGTCATTT	118500213	-	AGTCATTT	118500212	7	5	685	1	0	1	1	0	0	0	0	0	4596	117	5	0	4791	0	DMXL1	5	118500212	Frame_Shift_Ins	INS	-	TCGA-IZ-8195-01A-31D-2396-08	38459810	118500212	62415048	24	37841											
SOX30	11063	hgsc.bcm.edu	37	5	157075894	157075894	+	Missense_Mutation	SNP	A	A	T			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr5:157075894A>T	ENST00000265007.6	-	2	1319	c.978T>A	c.(976-978)gaT>gaA	p.D326E	SOX30_ENST00000519442.1_Missense_Mutation_p.D21E|SOX30_ENST00000311371.5_Missense_Mutation_p.D326E	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	326					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to corticosteroid (GO:0031960)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	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)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	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)			TGAAGGGAGTATCTGGTATGC	0.428																																					Esophageal Squamous(31;525 799 19355 21125 41744)											0													126	111	116					5																	157075894		2203	4300	6503	SO:0001583	missense	11063			AB022083	CCDS4339.1, CCDS4340.1	5q33	2010-10-21			ENSG00000039600	ENSG00000039600		"SRY (sex determining region Y)-boxes"	30635	protein-coding gene	gene with protein product		606698				15019997, 11678506	Standard	NM_178424		Approved		uc003lxb.1	O94993	OTTHUMG00000130247	ENST00000265007.6:c.978T>A	chr5.hg19:g.157075894A>T	ENSP00000265007:p.Asp326Glu		O94995|Q8IYX6	Missense_Mutation	SNP	ENST00000265007.6	hg19	CCDS4339.1	.	.	.	.	.	.	.	.	.	.	A	18.28	3.588194	0.66105	.	.	ENSG00000039600	ENST00000311371;ENST00000265007;ENST00000519442	D;D;D	0.97976	-4.64;-4.3;-4.57	5.72	-2.31	0.06765	High mobility group, superfamily (1);	0.152930	0.45867	D	0.000328	D	0.95793	0.8631	N	0.08118	0	0.30089	N	0.808462	D;D;D	0.76494	0.999;0.99;0.983	D;D;P	0.78314	0.991;0.933;0.858	D	0.92745	0.6211	10	0.66056	D	0.02	.	14.1885	0.65623	0.5913:0.0:0.4087:0.0	.	21;326;326	B4DXW7;O94993-2;O94993	.;.;SOX30_HUMAN	E	326;326;21	ENSP00000309343:D326E;ENSP00000265007:D326E;ENSP00000427984:D21E	ENSP00000265007:D326E	D	-	3	2	SOX30	157008472	0.992000	0.36948	0.971000	0.41717	0.971000	0.66376	0.280000	0.18790	-0.732000	0.04856	-1.477000	0.00996	GAT		0.428	SOX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252571.2	NM_007017		T	157075894	A	T	157075894	3	4	685	1	0	0	0	0	1	0	0	0	14958	446	16	5	1299	5	SOX30	5	157075894	Missense_Mutation	SNP	A	TCGA-IZ-8195-01A-31D-2396-08	38575682	157075894	23839366	25	37842											
MAML1	9794	hgsc.bcm.edu	37	5	179193185	179193185	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr5:179193185G>T	ENST00000292599.3	+	2	1437	c.1174G>T	c.(1174-1176)Gag>Tag	p.E392*	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)			AGGGGCCTCAGAGCTGTCCTC	0.657																																																0													42	46	45					5																	179193185		2203	4300	6503	SO:0001587	stop_gained	9794			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.1174G>T	chr5.hg19:g.179193185G>T	ENSP00000292599:p.Glu392*			Nonsense_Mutation	SNP	ENST00000292599.3	hg19	CCDS34315.1	.	.	.	.	.	.	.	.	.	.	G	39	7.386389	0.98252	.	.	ENSG00000161021	ENST00000292599;ENST00000376951	.	.	.	4.88	4.88	0.63580	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-25.6288	18.0213	0.89255	0.0:0.0:1.0:0.0	.	.	.	.	X	392;429	.	ENSP00000292599:E392X	E	+	1	0	MAML1	179125791	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.169000	0.94788	2.250000	0.74265	0.305000	0.20034	GAG		0.657	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	NM_014757		T	179193185	G	T	179193185	4	4	685	1	0	0	0	0	0	1	0	0	9207	943	33	4	1180	4	MAML1	5	179193185	Nonsense_Mutation	SNP	G	TCGA-IZ-8195-01A-31D-2396-08	22117291	179193185	1722075	26	37843											
TBC1D9B	23061	hgsc.bcm.edu	37	5	179320371	179320371	+	Missense_Mutation	SNP	T	T	A			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr5:179320371T>A	ENST00000356834.3	-	5	711	c.674A>T	c.(673-675)gAg>gTg	p.E225V	TBC1D9B_ENST00000355235.3_Missense_Mutation_p.E225V	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	225						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)			GAAGAAGAGCTCCTGGTCGCG	0.607																																																0													86	76	79					5																	179320371		2203	4300	6503	SO:0001583	missense	23061			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.674A>T	chr5.hg19:g.179320371T>A	ENSP00000349291:p.Glu225Val		D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Missense_Mutation	SNP	ENST00000356834.3	hg19	CCDS43408.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.196607	0.79015	.	.	ENSG00000197226	ENST00000356834;ENST00000355235	T;T	0.11712	2.75;2.84	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.26304	0.0642	L	0.58810	1.83	0.80722	D	1	D;D;P	0.69078	0.997;0.995;0.79	P;P;B	0.62649	0.87;0.905;0.441	T	0.01087	-1.1456	10	0.59425	D	0.04	-27.504	14.075	0.64885	0.0:0.0:0.0:1.0	.	225;225;225	A1L3A9;Q66K14-2;Q66K14	.;.;TBC9B_HUMAN	V	225	ENSP00000349291:E225V;ENSP00000347375:E225V	ENSP00000347375:E225V	E	-	2	0	TBC1D9B	179252977	1.000000	0.71417	1.000000	0.80357	0.716000	0.41182	7.791000	0.85805	1.929000	0.55896	0.260000	0.18958	GAG		0.607	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253501.3	NM_015043		A	179320371	T	A	179320371	3	1	685	1	0	0	0	0	1	0	0	0	15633	1551	54	5	3150	5	TBC1D9B	5	179320371	Missense_Mutation	SNP	T	TCGA-IZ-8195-01A-31D-2396-08	127186	179320371	1594889	27	37844											
TBC1D7	51256	hgsc.bcm.edu	37	6	13307966	13307966	+	Missense_Mutation	SNP	A	A	C			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr6:13307966A>C	ENST00000379300.3	-	6	774	c.531T>G	c.(529-531)ttT>ttG	p.F177L	TBC1D7_ENST00000379307.2_Missense_Mutation_p.F150L|TBC1D7_ENST00000356436.4_Missense_Mutation_p.F177L|TBC1D7_ENST00000607658.1_Missense_Mutation_p.F150L|TBC1D7_ENST00000607532.1_5'UTR|TBC1D7_ENST00000343141.4_Missense_Mutation_p.F131L	NM_001143964.2|NM_016495.4	NP_001137436.1|NP_057579.1	Q9P0N9	TBCD7_HUMAN	TBC1 domain family, member 7	177	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				activation of Rho GTPase activity (GO:0032862)|negative regulation of cilium assembly (GO:1902018)|negative regulation of TOR signaling (GO:0032007)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of Rab GTPase activity (GO:0032851)|response to growth factor (GO:0070848)	ciliary basal body (GO:0036064)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)			AGTATTGTTCAAACGCTTTTG	0.398																																																0													74	70	71					6																	13307966		2203	4300	6503	SO:0001583	missense	51256			AF151073	CCDS4523.1, CCDS47376.1, CCDS58995.1	6p23	2013-07-10			ENSG00000145979	ENSG00000145979			21066	protein-coding gene	gene with protein product		612655				11042152, 17646400	Standard	XM_005249163		Approved	dJ257A7.3, FLJ32666	uc003nan.3	Q9P0N9	OTTHUMG00000014272	ENST00000379300.3:c.531T>G	chr6.hg19:g.13307966A>C	ENSP00000368602:p.Phe177Leu		E7EV96|Q2TU37|Q53F44|Q5SZL7|Q86VM8|Q96MB8	Missense_Mutation	SNP	ENST00000379300.3	hg19	CCDS4523.1	.	.	.	.	.	.	.	.	.	.	A	6.453	0.451648	0.12223	.	.	ENSG00000145979	ENST00000334971;ENST00000356436;ENST00000379300;ENST00000379307;ENST00000343141;ENST00000452989;ENST00000450347;ENST00000422136;ENST00000446018;ENST00000420456	T;T;T;T;T;T;T;T;T	0.26660	2.42;2.42;2.42;2.42;2.42;2.42;2.42;2.42;1.72	6.17	1.03	0.20045	Rab-GAP/TBC domain (3);	0.105355	0.64402	D	0.000003	T	0.02970	0.0088	N	0.11154	0.105	0.48236	D	0.999617	B;B;B;B	0.09022	0.0;0.0;0.0;0.002	B;B;B;B	0.08055	0.0;0.003;0.001;0.002	T	0.35450	-0.9788	10	0.08837	T	0.75	-16.1625	5.7639	0.18215	0.5313:0.2616:0.2071:0.0	.	131;150;150;177	Q2TU37;Q5SZL5;Q9P0N9-2;Q9P0N9	.;.;.;TBCD7_HUMAN	L	118;177;177;150;131;150;150;177;150;150	ENSP00000348813:F177L;ENSP00000368602:F177L;ENSP00000368609:F150L;ENSP00000343100:F131L;ENSP00000414292:F150L;ENSP00000404680:F150L;ENSP00000394425:F177L;ENSP00000417005:F150L;ENSP00000412102:F150L	ENSP00000334212:F118L	F	-	3	2	TBC1D7	13415945	0.997000	0.39634	1.000000	0.80357	0.901000	0.52897	0.600000	0.24104	0.165000	0.19558	0.533000	0.62120	TTT		0.398	TBC1D7-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039896.2	NM_016495		C	13307966	A	C	13307966	3	2	685	1	0	0	0	0	1	0	0	0	15629	127	5	5	362	5	TBC1D7	6	13307966	Missense_Mutation	SNP	A	TCGA-IZ-8195-01A-31D-2396-08		13307966	157807101	28	37845											
AIM1	202	hgsc.bcm.edu	37	6	106968989	106968991	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08	TCT	TCT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr6:106968989_106968991delTCT	ENST00000369066.3	+	2	3169_3171	c.2682_2684delTCT	c.(2680-2685)aatctt>aat	p.L896del		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					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(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AACAGTCAAATCTTCTGCCCGAC	0.463																																																0																																										SO:0001651	inframe_deletion	202			U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"suppression of tumorigenicity 4", "beta-gamma crystallin domain containing 1"	601797	"suppression of tumorigenicity 4 (malignant melanoma)"	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.2682_2684delTCT	chr6.hg19:g.106968992_106968994delTCT	ENSP00000358062:p.Leu896del		Q6P2P0|Q9BTM3	In_Frame_Del	DEL	ENST00000369066.3	hg19	CCDS34506.1																																																																																				0.463	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			-	106968991	TCT	-	106968989	7	5	685	1	0	1	0	1	0	0	0	0	430	1432	50	0	2688	0	AIM1	6	106968989	In_Frame_Del	DEL	TCT	TCGA-IZ-8195-01A-31D-2396-08	93661023	106968989	64146078	29	37846											
AHI1	54806	hgsc.bcm.edu	37	6	135644423	135644423	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr6:135644423C>A	ENST00000367800.4	-	23	3421	c.3205G>T	c.(3205-3207)Gaa>Taa	p.E1069*	AHI1_ENST00000457866.2_Nonsense_Mutation_p.E1069*|AHI1_ENST00000417892.2_Nonsense_Mutation_p.E423*	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	1069	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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)		ATGGTTAGTTCATCTGATCGA	0.438																																																0													99	91	93					6																	135644423		1940	4132	6072	SO:0001587	stop_gained	54806			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.3205G>T	chr6.hg19:g.135644423C>A	ENSP00000356774:p.Glu1069*		E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Nonsense_Mutation	SNP	ENST00000367800.4	hg19	CCDS47483.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.418512|7.418512	0.98272|0.98272	.|.	.|.	ENSG00000135541|ENSG00000135541	ENST00000367800;ENST00000457866;ENST00000417892;ENST00000265602|ENST00000367799	.|.	.|.	.|.	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.72606	.|0.3481	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.68503	.|-0.5391	.|4	0.52906|.	T|.	0.07|.	-28.0524|-28.0524	20.6208|20.6208	0.99490|0.99490	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|I	1069;1069;423;1069|568	.|.	ENSP00000265602:E1069X|.	E|M	-|-	1|3	0|0	AHI1|AHI1	135686116|135686116	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.487000|7.487000	0.81328|0.81328	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	GAA|ATG		0.438	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1	NM_017651		A	135644423	C	A	135644423	4	1	685	1	0	0	0	0	0	1	0	0	413	835	29	4	405	4	AHI1	6	135644423	Nonsense_Mutation	SNP	C	TCGA-IZ-8195-01A-31D-2396-08	28675434	135644423	35470644	30	37847											
REPS1	85021	hgsc.bcm.edu	37	6	139251190	139251190	+	Missense_Mutation	SNP	G	G	C			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr6:139251190G>C	ENST00000450536.2	-	9	1755	c.1181C>G	c.(1180-1182)gCt>gGt	p.A394G	REPS1_ENST00000409812.2_Missense_Mutation_p.A394G|REPS1_ENST00000258062.5_Missense_Mutation_p.A394G|REPS1_ENST00000415951.2_Missense_Mutation_p.A394G|REPS1_ENST00000367663.4_Missense_Mutation_p.A394G			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	394					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)		AGGAGCTTCAGCAGGAGAGCC	0.418																																																0													146	123	131					6																	139251190		2203	4300	6503	SO:0001583	missense	85021				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.1181C>G	chr6.hg19:g.139251190G>C	ENSP00000392065:p.Ala394Gly		B7ZBZ8|B7ZBZ9|B7ZC00|J3KP76|Q5JWJ5|Q5JWJ6|Q5JWJ7|Q8NDR7|Q8WU62|Q9BXY9	Missense_Mutation	SNP	ENST00000450536.2	hg19		.	.	.	.	.	.	.	.	.	.	G	14.17	2.454329	0.43634	.	.	ENSG00000135597	ENST00000450536;ENST00000367663;ENST00000529597;ENST00000409812;ENST00000258062;ENST00000415951;ENST00000367668	T;T;T;T;T;T	0.34667	1.37;1.35;1.37;1.37;1.37;1.36	5.72	5.72	0.89469	.	0.168464	0.53938	D	0.000060	T	0.17534	0.0421	L	0.36672	1.1	0.46749	D	0.999188	B;B;P;B;B	0.38504	0.005;0.007;0.634;0.002;0.361	B;B;B;B;B	0.33620	0.009;0.006;0.167;0.002;0.081	T	0.02691	-1.1123	10	0.24483	T	0.36	-10.4052	18.069	0.89399	0.0:0.0:1.0:0.0	.	394;342;394;394;394	Q96D71-3;B2R7D3;Q96D71-2;Q96D71;E9PMG1	.;.;.;REPS1_HUMAN;.	G	394;394;380;394;394;394;342	ENSP00000392065:A394G;ENSP00000356635:A394G;ENSP00000434251:A380G;ENSP00000386699:A394G;ENSP00000258062:A394G;ENSP00000397941:A394G	ENSP00000258062:A394G	A	-	2	0	REPS1	139292883	1.000000	0.71417	0.986000	0.45419	0.985000	0.73830	7.353000	0.79414	2.700000	0.92200	0.563000	0.77884	GCT		0.418	REPS1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000042447.3			C	139251190	G	C	139251190	3	2	685	1	0	0	0	0	1	0	0	0	13234	971	34	4	1257	4	REPS1	6	139251190	Missense_Mutation	SNP	G	TCGA-IZ-8195-01A-31D-2396-08	3606767	139251190	31863877	31	37848											
HOXA3	3200	hgsc.bcm.edu	37	7	27147884	27147884	+	Missense_Mutation	SNP	G	G	A			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr7:27147884G>A	ENST00000396352.4	-	3	1181	c.982C>T	c.(982-984)Cgc>Tgc	p.R328C	HOXA3_ENST00000317201.2_Missense_Mutation_p.R328C|HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000521401.1_5'Flank	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	328					angiogenesis (GO:0001525)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						GCCGTGTAGCGCTTCTGTGGG	0.726																																					Esophageal Squamous(136;1368 1743 5685 7935 50360)											0													6	8	7					7																	27147884		2050	4012	6062	SO:0001583	missense	3200				CCDS5404.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105997	ENSG00000105997		"Homeoboxes / ANTP class : HOXL subclass"	5104	protein-coding gene	gene with protein product		142954	"homeo box A3"	HOX1E, HOX1		1973146, 1358459	Standard	XM_005249730		Approved		uc011jzl.2	O43365	OTTHUMG00000023209	ENST00000396352.4:c.982C>T	chr7.hg19:g.27147884G>A	ENSP00000379640:p.Arg328Cys		A4D181	Missense_Mutation	SNP	ENST00000396352.4	hg19	CCDS5404.1	.	.	.	.	.	.	.	.	.	.	G	13.00	2.104964	0.37145	.	.	ENSG00000105997	ENST00000396352;ENST00000317201;ENST00000396350	D;D	0.86769	-2.17;-2.17	5.68	4.8	0.61643	.	0.046305	0.85682	D	0.000000	D	0.89842	0.6832	M	0.79123	2.44	0.80722	D	1	D	0.62365	0.991	P	0.50231	0.635	D	0.90827	0.4713	10	0.87932	D	0	.	13.1397	0.59428	0.0:0.0:0.5656:0.4344	.	328	O43365	HXA3_HUMAN	C	328;328;170	ENSP00000379640:R328C;ENSP00000324884:R328C	ENSP00000324884:R328C	R	-	1	0	HOXA3	27114409	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	3.812000	0.55628	1.395000	0.46643	0.655000	0.94253	CGC		0.726	HOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358708.2			A	27147884	G	A	27147884	3	1	685	1	0	0	0	0	1	0	0	0	7295	1087	38	1	353	1	HOXA3	7	27147884	Missense_Mutation	SNP	G	TCGA-IZ-8195-01A-31D-2396-08		27147884	131990779	32	37849											
ABCA13	154664	hgsc.bcm.edu	37	7	48411809	48411809	+	Silent	SNP	C	C	A			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr7:48411809C>A	ENST00000435803.1	+	33	10872	c.10848C>A	c.(10846-10848)gcC>gcA	p.A3616A		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3616					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						ATTTCCTGGCCTGGTTCCTGG	0.463																																																0													178	170	173					7																	48411809		2026	4187	6213	SO:0001819	synonymous_variant	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.10848C>A	chr7.hg19:g.48411809C>A			K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	hg19	CCDS47584.1																																																																																				0.463	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		A	48411809	C	A	48411809	2	1	685	1	0	0	0	0	0	0	0	1	31	668	24	4		4	ABCA13	7	48411809	Silent	SNP	C	TCGA-IZ-8195-01A-31D-2396-08	21263925	48411809	110726854	33	37850											
TMEM139	135932	hgsc.bcm.edu	37	7	142983611	142983611	+	Missense_Mutation	SNP	T	T	C			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr7:142983611T>C	ENST00000359333.3	+	3	853	c.340T>C	c.(340-342)Tac>Cac	p.Y114H	TMEM139_ENST00000471161.1_3'UTR|TMEM139_ENST00000410004.1_Missense_Mutation_p.Y114H|TMEM139_ENST00000409102.1_Missense_Mutation_p.Y114H|TMEM139_ENST00000409541.1_Missense_Mutation_p.Y114H|CASP2_ENST00000310447.5_5'Flank|AC073342.12_ENST00000446192.1_RNA|CASP2_ENST00000392925.2_5'Flank|AC073342.12_ENST00000427392.1_RNA|TMEM139_ENST00000409244.1_Missense_Mutation_p.Y114H	NM_001242775.2|NM_001282876.1|NM_001282877.1	NP_001229704.1|NP_001269805.1|NP_001269806.1	Q8IV31	TM139_HUMAN	transmembrane protein 139	114						integral component of membrane (GO:0016021)				endometrium(1)|lung(4)|ovary(1)|prostate(1)	7	Melanoma(164;0.059)					ACCACCCCCCTACAGCACTGT	0.577																																																0													72	77	75					7																	142983611		2203	4300	6503	SO:0001583	missense	135932			AK075067	CCDS5878.1	7q34	2006-03-17			ENSG00000178826	ENSG00000178826			22058	protein-coding gene	gene with protein product							Standard	NM_153345		Approved	FLJ90586	uc003wck.4	Q8IV31	OTTHUMG00000152652	ENST00000359333.3:c.340T>C	chr7.hg19:g.142983611T>C	ENSP00000352284:p.Tyr114His		B2RCL5|D3DXD4|Q6ZME2|Q8NC22|Q96AU8	Missense_Mutation	SNP	ENST00000359333.3	hg19	CCDS5878.1	.	.	.	.	.	.	.	.	.	.	T	17.45	3.391665	0.62066	.	.	ENSG00000178826	ENST00000409102;ENST00000359333;ENST00000409244;ENST00000409541;ENST00000410004	.	.	.	5.1	5.1	0.69264	.	0.000000	0.56097	D	0.000028	T	0.72423	0.3458	M	0.65498	2.005	0.36979	D	0.894208	D	0.89917	1.0	D	0.91635	0.999	T	0.79264	-0.1875	9	0.87932	D	0	-14.1344	11.6253	0.51142	0.0:0.0:0.0:1.0	.	114	Q8IV31	TM139_HUMAN	H	114	.	ENSP00000352284:Y114H	Y	+	1	0	TMEM139	142693733	0.999000	0.42202	0.998000	0.56505	0.511000	0.34104	3.868000	0.56055	2.076000	0.62316	0.456000	0.33151	TAC		0.577	TMEM139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327145.1	NM_153345		C	142983611	T	C	142983611	3	2	685	1	0	0	0	0	1	0	0	0	16059	1522	53	3	346	3	TMEM139	7	142983611	Missense_Mutation	SNP	T	TCGA-IZ-8195-01A-31D-2396-08	94571802	142983611	16155052	34	37851											
CA8	767	hgsc.bcm.edu	37	8	61192348	61192348	+	Silent	SNP	C	C	T			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr8:61192348C>T	ENST00000317995.4	-	2	456	c.192G>A	c.(190-192)tcG>tcA	p.S64S		NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN	carbonic anhydrase VIII	64					one-carbon metabolic process (GO:0006730)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasm (GO:0005737)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)			Zonisamide(DB00909)	CATCCAACAGCGAGGGGTCAT	0.473																																																0													92	86	88					8																	61192348		2203	4300	6503	SO:0001819	synonymous_variant	767			L04656	CCDS6174.1	8q12.1	2012-08-21			ENSG00000178538	ENSG00000178538		"Carbonic anhydrases"	1382	protein-coding gene	gene with protein product		114815		CALS		17219437	Standard	NM_004056		Approved	CARP	uc003xtz.1	P35219	OTTHUMG00000165325	ENST00000317995.4:c.192G>A	chr8.hg19:g.61192348C>T			A8K0A5|B3KQZ7|Q32MY2	Silent	SNP	ENST00000317995.4	hg19	CCDS6174.1																																																																																				0.473	CA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383445.1			T	61192348	C	T	61192348	2	4	685	1	0	0	0	0	0	0	0	1	2525	755	27	1		1	CA8	8	61192348	Silent	SNP	C	TCGA-IZ-8195-01A-31D-2396-08		61192348	85171674	35	37852											
ZC3H3	23144	hgsc.bcm.edu	37	8	144550696	144550696	+	Missense_Mutation	SNP	C	C	T			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr8:144550696C>T	ENST00000262577.5	-	7	1992	c.1961G>A	c.(1960-1962)cGc>cAc	p.R654H		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	654					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)			GGCCAGGCTGCGCTGCACTGC	0.677																																																0													24	30	28					8																	144550696		2191	4297	6488	SO:0001583	missense	23144			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.1961G>A	chr8.hg19:g.144550696C>T	ENSP00000262577:p.Arg654His		Q14163|Q8N4E2|Q9BUS4	Missense_Mutation	SNP	ENST00000262577.5	hg19	CCDS6402.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.864699	0.91511	.	.	ENSG00000014164	ENST00000262577	T	0.04049	3.72	5.01	5.01	0.66863	.	0.000000	0.64402	D	0.000001	T	0.21267	0.0512	M	0.68952	2.095	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.00382	-1.1775	10	0.72032	D	0.01	-20.1301	18.3055	0.90179	0.0:1.0:0.0:0.0	.	654	Q8IXZ2	ZC3H3_HUMAN	H	654	ENSP00000262577:R654H	ENSP00000262577:R654H	R	-	2	0	ZC3H3	144621839	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	7.212000	0.77941	2.348000	0.79779	0.561000	0.74099	CGC		0.677	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382011.2	NM_015117		T	144550696	C	T	144550696	3	4	685	1	0	0	0	0	1	0	0	0	17574	768	27	1	909	1	ZC3H3	8	144550696	Missense_Mutation	SNP	C	TCGA-IZ-8195-01A-31D-2396-08	83358348	144550696	1813326	36	37853											
GPT	2875	hgsc.bcm.edu	37	8	145732311	145732312	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr8:145732311_145732312insA	ENST00000528431.1	+	12	1576_1577	c.1419_1420insA	c.(1420-1422)ttgfs	p.L474fs	MFSD3_ENST00000301327.4_5'Flank|GPT_ENST00000394955.2_Frame_Shift_Ins_p.L474fs			P24298	ALAT1_HUMAN	glutamic-pyruvate transaminase (alanine aminotransferase)	474					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(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)		L-Alanine(DB00160)|Phenelzine(DB00780)	TTCTGCCCCCCTTGGAGAAACT	0.629																																																0																																										SO:0001589	frameshift_variant	2875				CCDS6430.1	8q24.3	2013-09-19			ENSG00000167701	ENSG00000167701	2.6.1.2		4552	protein-coding gene	gene with protein product		138200					Standard	NM_005309		Approved	ALT1, GPT1	uc003zdh.4	P24298	OTTHUMG00000165176	Exception_encountered	chr8.hg19:g.145732311_145732312insA	ENSP00000433586:p.Leu474fs		B0YJ18|D3DWM7|P78398|Q93076	Frame_Shift_Ins	INS	ENST00000528431.1	hg19	CCDS6430.1																																																																																				0.629	GPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382471.1			A	145732312	-	A	145732311	7	5	685	1	0	1	1	0	0	0	0	0	6739	668	24	0	1461	0	GPT	8	145732311	Frame_Shift_Ins	INS	-	TCGA-IZ-8195-01A-31D-2396-08	1181615	145732311	631711	37	37854											
C9orf5	23731	hgsc.bcm.edu	37	9	111853340	111853340	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr9:111853340G>A	ENST00000374586.3	-	5	1043	c.1012C>T	c.(1012-1014)Cga>Tga	p.R338*		NM_032012.3	NP_114401.2	Q9H330	TM245_HUMAN	transmembrane protein 245	338						integral component of membrane (GO:0016021)											TCAGGCCTTCGTCTGCCCAGA	0.502																																																0													102	105	104					9																	111853340		1918	4124	6042	SO:0001587	stop_gained	23731			AF153415	CCDS43858.1	9q31	2012-03-06	2012-03-06	2012-03-06	ENSG00000106771	ENSG00000106771			1363	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 5"	C9orf5		10564813	Standard	NM_032012		Approved	CG-2	uc004bdt.4	Q9H330	OTTHUMG00000020469	ENST00000374586.3:c.1012C>T	chr9.hg19:g.111853340G>A	ENSP00000363714:p.Arg338*		B4DSW7|Q5JTQ5|Q5SS43|Q6ZME3|Q8NDJ5|Q96CG6	Nonsense_Mutation	SNP	ENST00000374586.3	hg19	CCDS43858.1	.	.	.	.	.	.	.	.	.	.	G	36	5.709073	0.96821	.	.	ENSG00000106771	ENST00000374587;ENST00000374586;ENST00000223608	.	.	.	5.68	3.78	0.43462	.	0.612323	0.16965	N	0.192324	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.7849	16.3662	0.83325	0.0:0.2216:0.7784:0.0	.	.	.	.	X	338	.	ENSP00000223608:R338X	R	-	1	2	C9orf5	110893161	1.000000	0.71417	0.646000	0.29493	0.959000	0.62525	3.441000	0.52893	0.708000	0.31955	0.563000	0.77884	CGA		0.502	TMEM245-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053587.2	NM_032012		A	111853340	G	A	111853340	4	1	685	1	0	0	0	0	0	1	0	0	2488	1153	40	1	1683	1	C9orf5	9	111853340	Nonsense_Mutation	SNP	G	TCGA-IZ-8195-01A-31D-2396-08		111853340	29360091	38	37855											
C9orf171	389799	hgsc.bcm.edu	37	9	135447853	135447853	+	Missense_Mutation	SNP	G	G	A			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr9:135447853G>A	ENST00000343036.2	+	7	967	c.919G>A	c.(919-921)Gtg>Atg	p.V307M	C9orf171_ENST00000393216.2_Missense_Mutation_p.V271M	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	307										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						AGAGTGTGCCGTGCGCCAGGG	0.602																																																0													54	52	53					9																	135447853		2203	4300	6503	SO:0001583	missense	389799			AK128819	CCDS6949.1, CCDS65167.1	9q34.13	2012-04-03			ENSG00000188523	ENSG00000188523			33776	protein-coding gene	gene with protein product							Standard	NM_207417		Approved	FLJ46082	uc004cbn.3	Q6ZQR2	OTTHUMG00000131684	ENST00000343036.2:c.919G>A	chr9.hg19:g.135447853G>A	ENSP00000343290:p.Val307Met		Q147X1	Missense_Mutation	SNP	ENST00000343036.2	hg19	CCDS6949.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.648988	0.67358	.	.	ENSG00000188523	ENST00000343036;ENST00000393216	T;T	0.24350	1.87;1.86	5.53	4.62	0.57501	.	0.411149	0.21865	N	0.067979	T	0.34193	0.0889	L	0.36672	1.1	0.21897	N	0.999488	D;D	0.76494	0.995;0.999	P;P	0.60117	0.578;0.869	T	0.07195	-1.0785	10	0.56958	D	0.05	.	10.6586	0.45690	0.0906:0.0:0.9094:0.0	.	271;307	Q6ZQR2-2;Q6ZQR2	.;CI171_HUMAN	M	307;271	ENSP00000343290:V307M;ENSP00000376909:V271M	ENSP00000343290:V307M	V	+	1	0	C9orf171	134437674	0.997000	0.39634	0.952000	0.39060	0.875000	0.50365	3.331000	0.52075	2.617000	0.88574	0.542000	0.68232	GTG		0.602	C9orf171-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254589.1	NM_207417		A	135447853	G	A	135447853	3	1	685	1	0	0	0	0	1	0	0	0	2472	1145	40	1	945	1	C9orf171	9	135447853	Missense_Mutation	SNP	G	TCGA-IZ-8195-01A-31D-2396-08	23594513	135447853	5765578	39	37856											
GTPBP4	23560	hgsc.bcm.edu	37	10	1061760	1061760	+	Missense_Mutation	SNP	C	C	A			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr10:1061760C>A	ENST00000360803.4	+	16	1758	c.1676C>A	c.(1675-1677)gCt>gAt	p.A559D	GTPBP4_ENST00000545048.1_Missense_Mutation_p.A512D|GTPBP4_ENST00000538293.1_Missense_Mutation_p.A443D	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	559					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of collagen binding (GO:0033342)|negative regulation of DNA replication (GO:0008156)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein stabilization (GO:0050821)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		GAAGACTCTGCTCCCCCGTCC	0.552																																																0													137	124	128					10																	1061760		2203	4300	6503	SO:0001583	missense	23560			AK001548	CCDS31132.1	10p15-p14	2007-07-27			ENSG00000107937	ENSG00000107937			21535	protein-coding gene	gene with protein product	"G protein-binding protein CRFG", " GTP-binding protein"					11316846	Standard	NM_012341		Approved	CRFG, NGB, FLJ10690, FLJ10686, NOG1	uc001ift.3	Q9BZE4	OTTHUMG00000017538	ENST00000360803.4:c.1676C>A	chr10.hg19:g.1061760C>A	ENSP00000354040:p.Ala559Asp		B3KMC5|B4DY13|B7Z7A3|O95446|Q5T3R8|Q9NVJ8	Missense_Mutation	SNP	ENST00000360803.4	hg19	CCDS31132.1	.	.	.	.	.	.	.	.	.	.	C	4.232	0.041906	0.08196	.	.	ENSG00000107937	ENST00000360803;ENST00000538293;ENST00000545048	T;T;T	0.32753	1.44;1.45;1.44	5.67	2.86	0.33363	.	0.344788	0.32868	N	0.005550	T	0.13628	0.0330	N	0.14661	0.345	0.34292	D	0.683401	B	0.10296	0.003	B	0.17098	0.017	T	0.20638	-1.0269	10	0.12103	T	0.63	-11.4058	4.131	0.10149	0.2318:0.1869:0.0:0.5813	.	559	Q9BZE4	NOG1_HUMAN	D	559;443;512	ENSP00000354040:A559D;ENSP00000444277:A443D;ENSP00000445473:A512D	ENSP00000354040:A559D	A	+	2	0	GTPBP4	1051760	0.537000	0.26386	0.749000	0.31150	0.005000	0.04900	0.845000	0.27668	0.256000	0.21614	-0.218000	0.12543	GCT		0.552	GTPBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046412.1	NM_012341		A	1061760	C	A	1061760	3	1	685	1	0	0	0	0	1	0	0	0	6884	797	28	4	1738	4	GTPBP4	10	1061760	Missense_Mutation	SNP	C	TCGA-IZ-8195-01A-31D-2396-08		1061760	134472987	40	37857											
KLF6	1316	hgsc.bcm.edu	37	10	3822362	3822362	+	Missense_Mutation	SNP	C	C	T			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr10:3822362C>T	ENST00000497571.1	-	3	996	c.736G>A	c.(736-738)Gag>Aag	p.E246K	KLF6_ENST00000542957.1_Intron|KLF6_ENST00000173785.4_5'UTR	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN	Kruppel-like factor 6	246					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)		CTGGTTAACTCATCACTTCTT	0.542																																																0													222	168	186					10																	3822362		2203	4300	6503	SO:0001583	missense	1316			U51869	CCDS7060.1, CCDS53490.1	10p15	2013-01-08	2004-11-29	2004-12-01	ENSG00000067082	ENSG00000067082		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	2235	protein-coding gene	gene with protein product	"GC-rich binding factor"	602053	"core promoter element binding protein"	BCD1, ST12, COPEB		9503030, 9685731	Standard	NM_001300		Approved	CPBP, GBF, Zf9, PAC1	uc001iha.3	Q99612	OTTHUMG00000017567	ENST00000497571.1:c.736G>A	chr10.hg19:g.3822362C>T	ENSP00000419923:p.Glu246Lys		B2RE86|B4DDN0|D3DRR1|F5H3M5|Q5VUT7|Q5VUT8|Q9BT79	Missense_Mutation	SNP	ENST00000497571.1	hg19	CCDS7060.1	.	.	.	.	.	.	.	.	.	.	C	36	5.975022	0.97162	.	.	ENSG00000067082	ENST00000497571	T	0.51071	0.72	5.67	5.67	0.87782	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.053414	0.85682	D	0.000000	T	0.56156	0.1966	N	0.17379	0.485	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.995;0.998	T	0.62234	-0.6897	10	0.87932	D	0	.	18.7705	0.91890	0.0:1.0:0.0:0.0	.	204;246	D3GC14;Q99612	.;KLF6_HUMAN	K	246	ENSP00000419923:E246K	ENSP00000419923:E246K	E	-	1	0	KLF6	3812362	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.702000	0.84576	2.677000	0.91161	0.561000	0.74099	GAG		0.542	KLF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046495.1			T	3822362	C	T	3822362	3	4	685	1	0	0	0	0	1	0	0	0	8352	835	29	2	123	2	KLF6	10	3822362	Missense_Mutation	SNP	C	TCGA-IZ-8195-01A-31D-2396-08	2760602	3822362	131712385	41	37858											
KIN	509	hgsc.bcm.edu	37	10	7829859	7829859	+	5'Flank	SNP	G	G	C			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr10:7829859G>C	ENST00000356708.7	+	0	0				KIN_ENST00000379562.4_Missense_Mutation_p.A13G|KIN_ENST00000543003.1_5'UTR|ATP5C1_ENST00000541227.1_5'Flank|ATP5C1_ENST00000335698.4_5'Flank|KIN_ENST00000535925.1_Missense_Mutation_p.A13G	NM_001001973.1	NP_001001973.1	P36542	ATPG_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1						ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) (GO:0000275)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)			breast(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	16						GATCCTGTTGGCGATAGCCTT	0.612																																					Melanoma(143;1012 1820 16249 30920 33158)											0													108	107	108					10																	7829859		2203	4300	6503	SO:0001631	upstream_gene_variant	22944			D16561	CCDS7081.1, CCDS31142.1	10p14	2012-10-12			ENSG00000165629	ENSG00000165629		"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	833	protein-coding gene	gene with protein product		108729		ATP5CL1, ATP5C		8168843, 8227057	Standard	NM_005174		Approved		uc001iju.3	P36542	OTTHUMG00000017639		chr10.hg19:g.7829859G>C	Exception_encountered		A8KA31|Q5VYP3|Q6I9V2|Q96AS8	Missense_Mutation	SNP	ENST00000356708.7	hg19	CCDS31142.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.942900	0.73672	.	.	ENSG00000151657	ENST00000535925;ENST00000379562	.	.	.	5.97	5.97	0.96955	.	0.224004	0.45606	D	0.000341	T	0.48714	0.1515	L	0.41236	1.265	0.80722	D	1	P;P	0.40970	0.734;0.734	B;B	0.28991	0.097;0.097	T	0.53387	-0.8446	9	0.52906	T	0.07	-11.2701	20.4301	0.99081	0.0:0.0:1.0:0.0	.	13;13	B4DX32;O60870	.;KIN17_HUMAN	G	13	.	ENSP00000368881:A13G	A	-	2	0	KIN	7869865	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.909000	0.48758	2.834000	0.97654	0.557000	0.71058	GCC		0.612	ATP5C1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046708.1	NM_005174		C	7829859	G	C	7829859	1	2	685	0	1	0	0	0	0	0	0	0	8317	1203	42	4		4	KIN	10	7829859	5'Flank	SNP	G	TCGA-IZ-8195-01A-31D-2396-08	4007497	7829859	127704888	42	37859											
MGEA5	10724	hgsc.bcm.edu	37	10	103563517	103563517	+	Silent	SNP	A	A	G			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr10:103563517A>G	ENST00000361464.3	-	7	1406	c.1011T>C	c.(1009-1011)aaT>aaC	p.N337N	MGEA5_ENST00000439817.1_Silent_p.N337N|MGEA5_ENST00000370094.3_Silent_p.N337N|MGEA5_ENST00000357797.5_Silent_p.N337N	NM_012215.3	NP_036347.1	O60502	OGA_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	337					aging (GO:0007568)|dATP metabolic process (GO:0046060)|glycoprotein catabolic process (GO:0006516)|N-acetylglucosamine metabolic process (GO:0006044)|necrotic cell death (GO:0070265)|negative regulation of cardiac muscle adaptation (GO:0010616)|negative regulation of protein glycosylation (GO:0060051)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cell killing (GO:0031343)|positive regulation of DNA metabolic process (GO:0051054)|positive regulation of glucose import (GO:0046326)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of proteolysis (GO:0045862)|protein targeting to membrane (GO:0006612)|response to steroid hormone (GO:0048545)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|hyalurononglucosaminidase activity (GO:0004415)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		TTCTCACTCCATTCATGTTTG	0.438																																																0													113	107	109					10																	103563517		2203	4300	6503	SO:0001819	synonymous_variant	10724			AF036144	CCDS7520.1, CCDS44471.1	10q24.1-q24.3	2008-08-01			ENSG00000198408	ENSG00000198408			7056	protein-coding gene	gene with protein product	"nuclear cytoplasmic O-GlcNAcase and acetyltransferase"	604039				9811929, 16356930	Standard	NM_012215		Approved	MEA5, NCOAT, OGA	uc001ktv.2	O60502	OTTHUMG00000018939	ENST00000361464.3:c.1011T>C	chr10.hg19:g.103563517A>G			B7WPB9|D3DR79|E9PGF9|O75166|Q86WV0|Q8IV98|Q9BVA5|Q9HAR0	Silent	SNP	ENST00000361464.3	hg19	CCDS7520.1																																																																																				0.438	MGEA5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049987.1	NM_012215		G	103563517	A	G	103563517	2	3	685	1	0	0	0	0	0	0	0	1	9557	214	8	3		3	MGEA5	10	103563517	Silent	SNP	A	TCGA-IZ-8195-01A-31D-2396-08	95733658	103563517	31971230	43	37860											
NPS	594857	hgsc.bcm.edu	37	10	129347639	129347639	+	Splice_Site	SNP	A	A	G			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr10:129347639A>G	ENST00000398023.1	+	1	27	c.7A>G	c.(7-9)Agc>Ggc	p.S3G		NM_001030013.1	NP_001025184.1	P0C0P6	NPS_HUMAN	neuropeptide S	3					neuropeptide signaling pathway (GO:0007218)|positive regulation of action potential (GO:0045760)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|visual learning (GO:0008542)	extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						CAAAATGATTAGGTAAAAGGC	0.348																																																0													120	114	116					10																	129347639		1824	4084	5908	SO:0001630	splice_region_variant	594857			BC148465	CCDS41577.1	10q26.2	2013-02-26			ENSG00000214285	ENSG00000214285		"Endogenous ligands"	33940	protein-coding gene	gene with protein product	"prepro-neuropeptide S"	609513				18181564, 15312648	Standard	NM_001030013		Approved		uc001ljx.1	P0C0P6		ENST00000398023.1:c.8+1A>G	chr10.hg19:g.129347639A>G				Missense_Mutation	SNP	ENST00000398023.1	hg19	CCDS41577.1	.	.	.	.	.	.	.	.	.	.	A	1.347	-0.592491	0.03799	.	.	ENSG00000214285	ENST00000398023	T	0.33216	1.42	5.72	0.828	0.18841	.	0.509696	0.13562	N	0.378760	T	0.14056	0.0340	.	.	.	0.21861	N	0.999501	B	0.14805	0.011	B	0.14578	0.011	T	0.34875	-0.9811	9	0.08599	T	0.76	2.0E-4	9.0261	0.36230	0.7136:0.0:0.2864:0.0	.	3	P0C0P6	NPS_HUMAN	G	3	ENSP00000381105:S3G	ENSP00000381105:S3G	S	+	1	0	NPS	129237629	0.925000	0.31364	0.777000	0.31699	0.054000	0.15201	1.856000	0.39389	-0.032000	0.13758	-0.899000	0.02877	AGC		0.348	NPS-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001030013	Missense_Mutation	G	129347639	A	G	129347639	5	3	685	1	0	0	0	0	0	0	1	0	10601	434	15	3	9	3	NPS	10	129347639	Splice_Site	SNP	A	TCGA-IZ-8195-01A-31D-2396-08	25784122	129347639	6187108	44	37861											
DCHS1	8642	hgsc.bcm.edu	37	11	6662595	6662595	+	Missense_Mutation	SNP	C	C	G			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr11:6662595C>G	ENST00000299441.3	-	2	661	c.250G>C	c.(250-252)Gag>Cag	p.E84Q		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	84	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)		CCGCTGCCCTCTTGGGCAGAG	0.627																																																0													35	35	35					11																	6662595		2201	4296	6497	SO:0001583	missense	8642			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"Cadherins / Cadherin-related"	13681	protein-coding gene	gene with protein product	"cadherin-related family member 6"	603057	"protocadherin 16", "dachsous 1 (Drosophila)"	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.250G>C	chr11.hg19:g.6662595C>G	ENSP00000299441:p.Glu84Gln		O15098	Missense_Mutation	SNP	ENST00000299441.3	hg19	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.772553	0.69992	.	.	ENSG00000166341	ENST00000299441	T	0.38401	1.14	5.41	5.41	0.78517	Cadherin (3);Cadherin-like (1);	0.000000	0.47093	D	0.000243	T	0.50103	0.1596	L	0.33245	0.995	0.54753	D	0.999986	D	0.69078	0.997	D	0.75020	0.985	T	0.42344	-0.9457	10	0.40728	T	0.16	.	18.1884	0.89799	0.0:1.0:0.0:0.0	.	84	Q96JQ0	PCD16_HUMAN	Q	84	ENSP00000299441:E84Q	ENSP00000299441:E84Q	E	-	1	0	DCHS1	6619171	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.783000	0.85696	2.536000	0.85505	0.643000	0.83706	GAG		0.627	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		G	6662595	C	G	6662595	3	3	685	1	0	0	0	0	1	0	0	0	4289	922	32	4	9726	4	DCHS1	11	6662595	Missense_Mutation	SNP	C	TCGA-IZ-8195-01A-31D-2396-08		6662595	128343921	45	37862											
OR5F1	338674	hgsc.bcm.edu	37	11	55761615	55761615	+	Missense_Mutation	SNP	C	C	T			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr11:55761615C>T	ENST00000278409.1	-	1	486	c.487G>A	c.(487-489)Gtc>Atc	p.V163I		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	163					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(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					AAGCTGCTGACATGGCTTGTG	0.483																																																0													73	69	71					11																	55761615		2201	4296	6497	SO:0001583	missense	338674			AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"GPCR / Class A : Olfactory receptors"	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.487G>A	chr11.hg19:g.55761615C>T	ENSP00000278409:p.Val163Ile		Q495D1|Q6IFB9	Missense_Mutation	SNP	ENST00000278409.1	hg19	CCDS31515.1	.	.	.	.	.	.	.	.	.	.	C	1.364	-0.588052	0.03799	.	.	ENSG00000149133	ENST00000278409	T	0.00099	8.73	2.8	-5.6	0.02497	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00073	0.0002	N	0.02111	-0.68	0.09310	N	1	B	0.14012	0.009	B	0.15870	0.014	T	0.02975	-1.1087	9	0.33141	T	0.24	.	7.0422	0.25027	0.1404:0.1464:0.0:0.7132	.	163	O95221	OR5F1_HUMAN	I	163	ENSP00000278409:V163I	ENSP00000278409:V163I	V	-	1	0	OR5F1	55518191	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-2.797000	0.00763	-0.940000	0.03705	0.297000	0.19635	GTC		0.483	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	NM_003697		T	55761615	C	T	55761615	3	4	685	1	0	0	0	0	1	0	0	0	11160	478	17	2	460	2	OR5F1	11	55761615	Missense_Mutation	SNP	C	TCGA-IZ-8195-01A-31D-2396-08	49099020	55761615	79244901	46	37863			1	65		2	2	22	N	C_A	4.884116e-05
OR5F1	338674	hgsc.bcm.edu	37	11	55761636	55761636	+	Missense_Mutation	SNP	A	A	C			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr11:55761636A>C	ENST00000278409.1	-	1	465	c.466T>G	c.(466-468)Ttc>Gtc	p.F156V		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	156					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(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					TTGACCATGAAGTTCAGCAAC	0.507																																																0													56	55	55					11																	55761636		2201	4296	6497	SO:0001583	missense	338674			AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"GPCR / Class A : Olfactory receptors"	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.466T>G	chr11.hg19:g.55761636A>C	ENSP00000278409:p.Phe156Val		Q495D1|Q6IFB9	Missense_Mutation	SNP	ENST00000278409.1	hg19	CCDS31515.1	.	.	.	.	.	.	.	.	.	.	A	4.403	0.074536	0.08485	.	.	ENSG00000149133	ENST00000278409	T	0.36157	1.27	2.96	1.42	0.22433	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.15089	0.0364	N	0.02286	-0.61	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19095	-1.0316	9	0.87932	D	0	.	7.3055	0.26445	0.7399:0.0:0.0:0.2601	.	156	O95221	OR5F1_HUMAN	V	156	ENSP00000278409:F156V	ENSP00000278409:F156V	F	-	1	0	OR5F1	55518212	0.000000	0.05858	0.976000	0.42696	0.068000	0.16541	-0.848000	0.04326	1.136000	0.42199	0.155000	0.16302	TTC		0.507	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	NM_003697		C	55761636	A	C	55761636	3	2	685	1	0	0	0	0	1	0	0	0	11160	72	3	5	481	5	OR5F1	11	55761636	Missense_Mutation	SNP	A	TCGA-IZ-8195-01A-31D-2396-08	21	55761636	79244880	47	37864			1	65		2	2	22	N	C_A	4.884116e-05
MYO7A	4647	hgsc.bcm.edu	37	11	76903188	76903188	+	Silent	SNP	C	C	T			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr11:76903188C>T	ENST00000409709.3	+	31	4289	c.4017C>T	c.(4015-4017)aaC>aaT	p.N1339N	MYO7A_ENST00000458637.2_Silent_p.N1339N|MYO7A_ENST00000409619.2_Silent_p.N1328N	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1339	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						AGGAGCGCAACGCCCCCTGGA	0.662											OREG0021258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													59	69	66					11																	76903188		2114	4216	6330	SO:0001819	synonymous_variant	4647			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.4017C>T	chr11.hg19:g.76903188C>T		1171	B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Silent	SNP	ENST00000409709.3	hg19	CCDS53683.1																																																																																				0.662	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		T	76903188	C	T	76903188	2	4	685	1	0	0	0	0	0	0	0	1	10084	535	19	1		1	MYO7A	11	76903188	Silent	SNP	C	TCGA-IZ-8195-01A-31D-2396-08	21141552	76903188	58103328	48	37865											
LRP1	4035	hgsc.bcm.edu	37	12	57573720	57573720	+	Missense_Mutation	SNP	G	G	A			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr12:57573720G>A	ENST00000243077.3	+	30	5588	c.5122G>A	c.(5122-5124)Gtc>Atc	p.V1708I		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1708					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)	CCATGGCCTTGTCGTCCACCC	0.622																																																0													80	84	82					12																	57573720		2203	4300	6503	SO:0001583	missense	4035			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.5122G>A	chr12.hg19:g.57573720G>A	ENSP00000243077:p.Val1708Ile		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	hg19	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.135943	0.77662	.	.	ENSG00000123384	ENST00000243077	D	0.91792	-2.91	5.01	5.01	0.66863	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000008	D	0.94814	0.8325	L	0.58669	1.825	0.80722	D	1	D	0.58970	0.984	D	0.68192	0.956	D	0.94336	0.7566	10	0.46703	T	0.11	.	17.2551	0.87053	0.0:0.0:1.0:0.0	.	1708	Q07954	LRP1_HUMAN	I	1708	ENSP00000243077:V1708I	ENSP00000243077:V1708I	V	+	1	0	LRP1	55859987	1.000000	0.71417	0.994000	0.49952	0.978000	0.69477	9.622000	0.98378	2.606000	0.88127	0.655000	0.94253	GTC		0.622	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		A	57573720	G	A	57573720	3	1	685	1	0	0	0	0	1	0	0	0	8953	1377	48	2	5240	2	LRP1	12	57573720	Missense_Mutation	SNP	G	TCGA-IZ-8195-01A-31D-2396-08		57573720	76278175	49	37866											
C12orf51	283450	hgsc.bcm.edu	37	12	112668608	112668608	+	Silent	SNP	G	G	A			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr12:112668608G>A	ENST00000430131.2	-	39	6098	c.4953C>T	c.(4951-4953)ccC>ccT	p.P1651P	HECTD4_ENST00000377560.5_Silent_p.P1901P|HECTD4_ENST00000550722.1_Silent_p.P1927P			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	1651					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)										CACTGATGAAGGGACGCACAG	0.498																																																0													84	76	79					12																	112668608		2068	4230	6298	SO:0001819	synonymous_variant	283450			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.4953C>T	chr12.hg19:g.112668608G>A			L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	hg19																																																																																					0.498	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		A	112668608	G	A	112668608	2	1	685	1	0	0	0	0	0	0	0	1	1698	987	35	2		2	C12orf51	12	112668608	Silent	SNP	G	TCGA-IZ-8195-01A-31D-2396-08	55094888	112668608	21183287	50	37867											
MTMR6	9107	hgsc.bcm.edu	37	13	25823587	25823587	+	Missense_Mutation	SNP	G	G	C			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr13:25823587G>C	ENST00000381801.5	-	14	2410	c.1649C>G	c.(1648-1650)aCc>aGc	p.T550S	MTMR6_ENST00000540661.1_Intron|AL590787.1_ENST00000408397.1_RNA	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	550					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|potassium ion transmembrane transport (GO:0071805)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	calcium-activated potassium channel activity (GO:0015269)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		CAATTCCTTGGTGAGGATGCC	0.353																																																0													145	137	139					13																	25823587		2203	4300	6503	SO:0001583	missense	9107			AF072928	CCDS9313.1	13q12	2011-06-09			ENSG00000139505	ENSG00000139505		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7453	protein-coding gene	gene with protein product		603561				9736772	Standard	NM_004685		Approved		uc001uqf.4	Q9Y217	OTTHUMG00000016606	ENST00000381801.5:c.1649C>G	chr13.hg19:g.25823587G>C	ENSP00000371221:p.Thr550Ser		B2RBB5|B3KSB4|Q5JRG6|Q86TB7|Q86YH4|Q96P80	Missense_Mutation	SNP	ENST00000381801.5	hg19	CCDS9313.1	.	.	.	.	.	.	.	.	.	.	G	10.08	1.252375	0.22880	.	.	ENSG00000139505	ENST00000381801;ENST00000319298	D	0.94092	-3.35	5.65	4.76	0.60689	.	0.280543	0.39210	N	0.001422	D	0.82701	0.5094	N	0.12182	0.205	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.74551	-0.3628	10	0.15066	T	0.55	.	6.229	0.20724	0.0787:0.1336:0.6502:0.1375	.	550	Q9Y217	MTMR6_HUMAN	S	550;118	ENSP00000371221:T550S	ENSP00000317987:T118S	T	-	2	0	MTMR6	24721587	0.998000	0.40836	0.987000	0.45799	0.992000	0.81027	0.947000	0.29082	2.833000	0.97629	0.655000	0.94253	ACC		0.353	MTMR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044225.1	NM_004685		C	25823587	G	C	25823587	3	2	685	1	0	0	0	0	1	0	0	0	9949	1261	44	4	220	4	MTMR6	13	25823587	Missense_Mutation	SNP	G	TCGA-IZ-8195-01A-31D-2396-08		25823587	89346291	51	37868											
IPO5	3843	hgsc.bcm.edu	37	13	98652854	98652854	+	Missense_Mutation	SNP	G	G	A			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr13:98652854G>A	ENST00000490680.1	+	10	1128	c.1063G>A	c.(1063-1065)Gtt>Att	p.V355I	IPO5_ENST00000261574.5_Missense_Mutation_p.V373I|IPO5_ENST00000539640.1_Missense_Mutation_p.V230I			O00410	IPO5_HUMAN	importin 5	355	Ran-GTP binding. {ECO:0000250}.				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						TGGAAAGCTCGTTCTGCCGAT	0.418																																																0													138	119	125					13																	98652854		2203	4300	6503	SO:0001583	missense	3843			U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"Importins"	6402	protein-coding gene	gene with protein product		602008	"karyopherin (importin) beta 3", "RAN binding protein 5"	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.1063G>A	chr13.hg19:g.98652854G>A	ENSP00000418393:p.Val355Ile		B4DZA0|O15257|Q5T578|Q86XC7	Missense_Mutation	SNP	ENST00000490680.1	hg19		.	.	.	.	.	.	.	.	.	.	G	14.28	2.486959	0.44249	.	.	ENSG00000065150	ENST00000261574;ENST00000357602;ENST00000490680;ENST00000539640	T;T;T;T	0.18338	2.22;2.22;2.22;2.22	5.99	5.99	0.97316	Armadillo-like helical (1);Armadillo-type fold (1);	0.052583	0.85682	D	0.000000	T	0.10465	0.0256	N	0.05280	-0.08	0.58432	D	0.999996	B;B;B	0.17852	0.024;0.013;0.023	B;B;B	0.23716	0.021;0.013;0.048	T	0.21177	-1.0253	10	0.07644	T	0.81	-0.6551	20.4756	0.99175	0.0:0.0:1.0:0.0	.	230;355;373	B4E0R6;O00410;O00410-3	.;IPO5_HUMAN;.	I	373;355;355;230	ENSP00000261574:V373I;ENSP00000350219:V355I;ENSP00000418393:V355I;ENSP00000445126:V230I	ENSP00000261574:V373I	V	+	1	0	IPO5	97450855	1.000000	0.71417	0.795000	0.32087	0.974000	0.67602	6.319000	0.72871	2.847000	0.97988	0.655000	0.94253	GTT		0.418	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000354655.1	NM_002271		A	98652854	G	A	98652854	3	1	685	1	0	0	0	0	1	0	0	0	7798	1145	40	1	1159	1	IPO5	13	98652854	Missense_Mutation	SNP	G	TCGA-IZ-8195-01A-31D-2396-08	72829267	98652854	16517024	52	37869											
FARP1	10160	hgsc.bcm.edu	37	13	99037979	99037979	+	Missense_Mutation	SNP	A	A	C			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr13:99037979A>C	ENST00000319562.6	+	8	935	c.670A>C	c.(670-672)Atg>Ctg	p.M224L	FARP1_ENST00000376586.2_Missense_Mutation_p.M224L|FARP1_ENST00000595437.1_Missense_Mutation_p.M224L	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	224	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TCGGCTAGAGATGTATGGAAT	0.488																																																0													102	98	99					13																	99037979		2203	4300	6503	SO:0001583	missense	10160			AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"Rho guanine nucleotide exchange factors", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Pleckstrin homology (PH) domain containing"	3591	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 75"	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.670A>C	chr13.hg19:g.99037979A>C	ENSP00000322926:p.Met224Leu		Q5JVI9|Q6IQ29	Missense_Mutation	SNP	ENST00000319562.6	hg19	CCDS9487.1	.	.	.	.	.	.	.	.	.	.	A	15.46	2.839552	0.51057	.	.	ENSG00000152767	ENST00000376586;ENST00000319562	D;D	0.82619	-1.63;-1.63	5.85	4.63	0.57726	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);	0.075237	0.85682	D	0.000000	D	0.88555	0.6468	M	0.63428	1.95	0.58432	D	0.999996	B;D	0.60575	0.019;0.988	B;D	0.77557	0.026;0.99	D	0.86464	0.1781	10	0.32370	T	0.25	.	12.9994	0.58666	0.8652:0.1348:0.0:0.0	.	224;224	Q9Y4F1;C9JME2	FARP1_HUMAN;.	L	224	ENSP00000365771:M224L;ENSP00000322926:M224L	ENSP00000322926:M224L	M	+	1	0	FARP1	97835980	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.144000	0.71762	0.994000	0.38892	0.533000	0.62120	ATG		0.488	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766		C	99037979	A	C	99037979	3	2	685	1	0	0	0	0	1	0	0	0	5678	333	12	5	919	5	FARP1	13	99037979	Missense_Mutation	SNP	A	TCGA-IZ-8195-01A-31D-2396-08	385125	99037979	16131899	53	37870											
LRP10	26020	hgsc.bcm.edu	37	14	23345117	23345117	+	Silent	SNP	C	C	T			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr14:23345117C>T	ENST00000359591.4	+	5	1651	c.960C>T	c.(958-960)ggC>ggT	p.G320G	LRP10_ENST00000546834.1_Silent_p.G320G	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	320	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				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)		TAGGCTCTGGCCTGGGAGCTG	0.607																																																0													70	65	67					14																	23345117		2203	4300	6503	SO:0001819	synonymous_variant	26020			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.960C>T	chr14.hg19:g.23345117C>T			A8K4R5|D3DS31|O95882|Q14CK7|Q86T02|Q8NCZ4|Q9HC42|Q9UG33	Silent	SNP	ENST00000359591.4	hg19	CCDS9578.1	.	.	.	.	.	.	.	.	.	.	C	4.733	0.136334	0.09032	.	.	ENSG00000197324	ENST00000551466	.	.	.	5.97	3.99	0.46301	.	.	.	.	.	T	0.55909	0.1950	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53401	-0.8444	4	.	.	.	-15.5777	6.558	0.22471	0.1566:0.6785:0.0:0.1649	.	.	.	.	S	222	.	.	P	+	1	0	LRP10	22414957	0.997000	0.39634	0.992000	0.48379	0.682000	0.39822	0.651000	0.24873	1.544000	0.49359	0.655000	0.94253	CCT		0.607	LRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071663.3			T	23345117	C	T	23345117	2	4	685	1	0	0	0	0	0	0	0	1	8954	726	26	2		2	LRP10	14	23345117	Silent	SNP	C	TCGA-IZ-8195-01A-31D-2396-08		23345117	84004423	54	37871											
RYR3	6263	hgsc.bcm.edu	37	15	33961646	33961646	+	Missense_Mutation	SNP	T	T	C			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr15:33961646T>C	ENST00000389232.4	+	37	5781	c.5711T>C	c.(5710-5712)cTc>cCc	p.L1904P	RYR3_ENST00000415757.3_Missense_Mutation_p.L1904P	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1904	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)		GAGGACCTTCTCCTTCACTGT	0.463																																																0													86	83	84					15																	33961646		1868	4102	5970	SO:0001583	missense	6263				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.5711T>C	chr15.hg19:g.33961646T>C	ENSP00000373884:p.Leu1904Pro		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	hg19	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	T	15.50	2.851326	0.51270	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.71341	-0.54;-0.56	5.65	4.53	0.55603	.	0.156082	0.44097	D	0.000496	T	0.69771	0.3148	M	0.61703	1.905	0.54753	D	0.999987	P;P	0.44195	0.787;0.828	B;B	0.43413	0.419;0.296	T	0.72821	-0.4177	10	0.87932	D	0	.	11.6133	0.51074	0.0:0.0688:0.0:0.9312	.	1904;1904	Q15413-2;Q15413	.;RYR3_HUMAN	P	1904	ENSP00000373884:L1904P;ENSP00000399610:L1904P	ENSP00000354735:L1904P	L	+	2	0	RYR3	31748938	1.000000	0.71417	0.639000	0.29394	0.964000	0.63967	3.815000	0.55651	1.158000	0.42547	0.533000	0.62120	CTC		0.463	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			C	33961646	T	C	33961646	3	2	685	1	0	0	0	0	1	0	0	0	13776	1551	54	3	5857	3	RYR3	15	33961646	Missense_Mutation	SNP	T	TCGA-IZ-8195-01A-31D-2396-08		33961646	68569746	55	37872											
THBS1	7057	hgsc.bcm.edu	37	15	39885784	39885784	+	Missense_Mutation	SNP	T	T	C			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr15:39885784T>C	ENST00000260356.5	+	19	3347	c.3182T>C	c.(3181-3183)cTt>cCt	p.L1061P	CTD-2033D15.1_ENST00000560769.1_RNA	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	1061	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)		TACTCGGGCCTTTCTGTGAAA	0.582																																																0													107	105	106					15																	39885784		2200	4297	6497	SO:0001583	missense	7057				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.3182T>C	chr15.hg19:g.39885784T>C	ENSP00000260356:p.Leu1061Pro		A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	SNP	ENST00000260356.5	hg19	CCDS32194.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.514534	0.85389	.	.	ENSG00000137801	ENST00000260356	D	0.95853	-3.83	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	0.32357	N	0.006219	D	0.97049	0.9036	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.989;1.0	D	0.97737	1.0206	10	0.87932	D	0	-8.1512	16.0747	0.80960	0.0:0.0:0.0:1.0	.	976;1061	B4E3J7;P07996	.;TSP1_HUMAN	P	1061	ENSP00000260356:L1061P	ENSP00000260356:L1061P	L	+	2	0	THBS1	37673076	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	8.036000	0.88901	2.190000	0.69967	0.533000	0.62120	CTT		0.582	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		C	39885784	T	C	39885784	3	2	685	1	0	0	0	0	1	0	0	0	15858	1609	56	3	3252	3	THBS1	15	39885784	Missense_Mutation	SNP	T	TCGA-IZ-8195-01A-31D-2396-08	5924138	39885784	62645608	56	37873											
HMG20A	10363	hgsc.bcm.edu	37	15	77759508	77759508	+	Silent	SNP	C	C	A			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr15:77759508C>A	ENST00000381714.3	+	5	737	c.309C>A	c.(307-309)ccC>ccA	p.P103P	HMG20A_ENST00000336216.4_Silent_p.P103P	NM_018200.2	NP_060670.1	Q9NP66	HM20A_HUMAN	high mobility group 20A	103					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|negative regulation of neuron differentiation (GO:0045665)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						GCAATGCACCCAAATCCCCCC	0.428																																																0													92	88	90					15																	77759508		2196	4294	6490	SO:0001819	synonymous_variant	10363			AF146222	CCDS10295.1	15q24	2011-07-01	2011-04-05		ENSG00000140382	ENSG00000140382		"High mobility group / Non-canonical"	5001	protein-coding gene	gene with protein product	"HMG box domain containing 1"	605534	"high-mobility group 20A"			10773667	Standard	NM_018200		Approved	HMGX1, FLJ10739, HMGXB1	uc002bcr.3	Q9NP66	OTTHUMG00000143729	ENST00000381714.3:c.309C>A	chr15.hg19:g.77759508C>A			A6NHY3|D3DW78|Q53G31|Q9NSF6	Silent	SNP	ENST00000381714.3	hg19	CCDS10295.1																																																																																				0.428	HMG20A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419512.2	NM_018200		A	77759508	C	A	77759508	2	1	685	1	0	0	0	0	0	0	0	1	7223	581	21	4		4	HMG20A	15	77759508	Silent	SNP	C	TCGA-IZ-8195-01A-31D-2396-08	37873724	77759508	24771884	57	37874											
MLST8	64223	hgsc.bcm.edu	37	16	2258565	2258565	+	Silent	SNP	C	C	T			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr16:2258565C>T	ENST00000569417.1	+	8	1167	c.813C>T	c.(811-813)ggC>ggT	p.G271G	MLST8_ENST00000301724.10_Silent_p.G271G|MLST8_ENST00000397124.1_Silent_p.G271G|MLST8_ENST00000564088.1_Silent_p.G271G|MLST8_ENST00000565250.1_Silent_p.G271G|MLST8_ENST00000301725.7_3'UTR|MLST8_ENST00000382450.4_Silent_p.G270G	NM_022372.4	NP_071767.3	Q9BVC4	LST8_HUMAN	MTOR associated protein, LST8 homolog (S. cerevisiae)	271					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						CCTCCCGCGGCTGGATGTGGG	0.677																																																0													61	74	70					16																	2258565		2030	4167	6197	SO:0001819	synonymous_variant	64223				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.813C>T	chr16.hg19:g.2258565C>T			B3KMM4|B4DY00|D3DU88|Q5M800|Q86Y18|Q8WUI5|Q9HA66|Q9UJV6	Silent	SNP	ENST00000569417.1	hg19	CCDS10462.2																																																																																				0.677	MLST8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250763.2	NM_022372		T	2258565	C	T	2258565	2	4	685	1	0	0	0	0	0	0	0	1	9636	784	28	2		2	MLST8	16	2258565	Silent	SNP	C	TCGA-IZ-8195-01A-31D-2396-08		2258565	88096188	58	37875											
PPP4C	5531	hgsc.bcm.edu	37	16	30094761	30094761	+	Missense_Mutation	SNP	G	G	A			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr16:30094761G>A	ENST00000279387.7	+	6	518	c.350G>A	c.(349-351)aGt>aAt	p.S117N	PPP4C_ENST00000561610.1_Missense_Mutation_p.S117N	NM_002720.1	NP_002711.1	P60510	PP4C_HUMAN	protein phosphatase 4, catalytic subunit	117					dephosphorylation (GO:0016311)|NIK/NF-kappaB signaling (GO:0038061)|regulation of double-strand break repair via homologous recombination (GO:0010569)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein phosphatase 4 complex (GO:0030289)	metal ion binding (GO:0046872)|NF-kappaB-inducing kinase activity (GO:0004704)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						AACCATGAGAGTCGCCAGATC	0.592																																																0													101	92	95					16																	30094761		2197	4300	6497	SO:0001583	missense	5531				CCDS10669.1	16p11.2	2010-03-17	2010-03-05		ENSG00000149923	ENSG00000149923	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9319	protein-coding gene	gene with protein product	"protein phosphatase X, catalytic subunit"	602035	"protein phosphatase 4 (formerly X), catalytic subunit"			9177794	Standard	NM_002720		Approved	PP4, PPX	uc002dwf.3	P60510	OTTHUMG00000132113	ENST00000279387.7:c.350G>A	chr16.hg19:g.30094761G>A	ENSP00000279387:p.Ser117Asn		P33172	Missense_Mutation	SNP	ENST00000279387.7	hg19	CCDS10669.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.690325	0.88735	.	.	ENSG00000149923	ENST00000279387	D	0.85861	-2.04	5.83	5.83	0.93111	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.136138	0.64402	D	0.000003	D	0.94751	0.8306	H	0.97315	3.98	0.80722	D	1	P	0.44380	0.834	P	0.55785	0.784	D	0.95816	0.8845	10	0.87932	D	0	1.9966	18.8865	0.92379	0.0:0.0:1.0:0.0	.	117	P60510	PP4C_HUMAN	N	117	ENSP00000279387:S117N	ENSP00000279387:S117N	S	+	2	0	PPP4C	30002262	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	2.862000	0.48388	2.761000	0.94854	0.650000	0.86243	AGT		0.592	PPP4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255155.2	NM_002720		A	30094761	G	A	30094761	3	1	685	1	0	0	0	0	1	0	0	0	12407	1029	36	2	368	2	PPP4C	16	30094761	Missense_Mutation	SNP	G	TCGA-IZ-8195-01A-31D-2396-08	27836196	30094761	60259992	59	37876											
ITFG1	81533	hgsc.bcm.edu	37	16	47189669	47189669	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr16:47189669delT	ENST00000320640.6	-	18	2028	c.1800delA	c.(1798-1800)aaafs	p.K600fs	ITFG1_ENST00000544001.2_3'UTR|ITFG1_ENST00000568047.1_5'UTR|RP11-329J18.2_ENST00000564705.1_RNA|RP11-329J18.2_ENST00000565694.1_RNA	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	600						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				CTTCTTGTCGTTTTTCTCTAT	0.328																																																0													158	171	167					16																	47189669		2202	4300	6502	SO:0001589	frameshift_variant	81533			AF503339	CCDS10728.1	16q12.1	2008-02-05			ENSG00000129636	ENSG00000129636			30697	protein-coding gene	gene with protein product	"T cell immunomodulatory protein"	611803				12598909	Standard	NM_030790		Approved	CDA08, TIP	uc002eet.3	Q8TB96	OTTHUMG00000133103	ENST00000320640.6:c.1800delA	chr16.hg19:g.47189669delT	ENSP00000319918:p.Lys600fs		Q96SR4|Q9BRE2|Q9H2V9	Frame_Shift_Del	DEL	ENST00000320640.6	hg19	CCDS10728.1																																																																																				0.328	ITFG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256768.3	NM_030790		-	47189669	T	-	47189669	7	5	685	1	0	1	0	1	0	0	0	0	7871	1722	60	0	42	0	ITFG1	16	47189669	Frame_Shift_Del	DEL	T	TCGA-IZ-8195-01A-31D-2396-08	17094908	47189669	43165084	60	37877											
MARVELD3	91862	hgsc.bcm.edu	37	16	71663293	71663293	+	Missense_Mutation	SNP	T	T	A			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr16:71663293T>A	ENST00000268485.3	+	2	535	c.491T>A	c.(490-492)cTg>cAg	p.L164Q	RP11-432I5.2_ENST00000562763.1_RNA|MARVELD3_ENST00000565261.1_Missense_Mutation_p.C110S|MARVELD3_ENST00000567501.1_5'UTR|MARVELD3_ENST00000299952.4_Missense_Mutation_p.L164Q|MARVELD3_ENST00000567566.1_Missense_Mutation_p.L164Q	NM_052858.4	NP_443090.4	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	164	Pro-rich.				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)				GAGAGATATCTGCCCTCGACC	0.502																																																0													97	90	92					16																	71663293		2198	4300	6498	SO:0001583	missense	91862			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.491T>A	chr16.hg19:g.71663293T>A	ENSP00000268485:p.Leu164Gln		A8K820|H3BQM5|Q96MJ4	Missense_Mutation	SNP	ENST00000268485.3	hg19	CCDS10904.1	.	.	.	.	.	.	.	.	.	.	T	9.698	1.153699	0.21371	.	.	ENSG00000140832	ENST00000268485;ENST00000299952	T;T	0.49139	0.79;0.84	5.57	3.3	0.37823	.	0.821835	0.11320	N	0.576170	T	0.48857	0.1523	L	0.34521	1.04	0.09310	N	0.999993	D;D;D	0.71674	0.958;0.958;0.998	P;P;P	0.62560	0.66;0.66;0.904	T	0.28776	-1.0033	10	0.18276	T	0.48	-13.3398	6.9002	0.24279	0.0:0.1987:0.0:0.8013	.	164;164;187	Q96A59-2;Q96A59;Q9BSH2	.;MALD3_HUMAN;.	Q	164	ENSP00000268485:L164Q;ENSP00000299952:L164Q	ENSP00000268485:L164Q	L	+	2	0	MARVELD3	70220794	0.001000	0.12720	0.001000	0.08648	0.051000	0.14879	0.598000	0.24074	0.958000	0.37956	0.459000	0.35465	CTG		0.502	MARVELD3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268991.2	NM_052858		A	71663293	T	A	71663293	3	1	685	1	0	0	0	0	1	0	0	0	9321	1580	55	5	497	5	MARVELD3	16	71663293	Missense_Mutation	SNP	T	TCGA-IZ-8195-01A-31D-2396-08	24473624	71663293	18691460	61	37878											
ABR	29	hgsc.bcm.edu	37	17	916353	916353	+	Missense_Mutation	SNP	T	T	C			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr17:916353T>C	ENST00000302538.5	-	17	1989	c.1843A>G	c.(1843-1845)Atg>Gtg	p.M615V	ABR_ENST00000291107.2_Missense_Mutation_p.M578V|ABR_ENST00000544583.2_Missense_Mutation_p.M569V|ABR_ENST00000574437.1_Missense_Mutation_p.M569V|ABR_ENST00000572441.1_Missense_Mutation_p.M66V|ABR_ENST00000543210.2_Missense_Mutation_p.M66V|ABR_ENST00000536794.2_Missense_Mutation_p.M397V	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	615					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)		ACCCCGTTCATCTCAATCACG	0.632																																					Esophageal Squamous(197;2016 2115 4129 29033 46447)											0													232	177	196					17																	916353		2203	4300	6503	SO:0001583	missense	29			L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	81	protein-coding gene	gene with protein product		600365	"active BCR-related gene"			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.1843A>G	chr17.hg19:g.916353T>C	ENSP00000303909:p.Met615Val		B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Missense_Mutation	SNP	ENST00000302538.5	hg19	CCDS10999.1	.	.	.	.	.	.	.	.	.	.	T	16.54	3.152234	0.57259	.	.	ENSG00000159842	ENST00000302538;ENST00000544583;ENST00000291107;ENST00000536794;ENST00000543210	T;T;T;T;T	0.19532	2.17;2.18;2.14;3.39;3.13	5.77	5.77	0.91146	C2 calcium/lipid-binding domain, CaLB (1);	0.046264	0.85682	D	0.000000	T	0.39733	0.1089	M	0.65975	2.015	0.41941	D	0.990616	B;B;P;B	0.43578	0.128;0.452;0.811;0.129	B;P;P;B	0.60789	0.101;0.455;0.879;0.045	T	0.15037	-1.0451	10	0.16896	T	0.51	.	12.5258	0.56085	0.0:0.0:0.0:1.0	.	397;66;578;615	B7Z683;F5H3S2;Q12979-2;Q12979	.;.;.;ABR_HUMAN	V	615;569;578;397;66	ENSP00000303909:M615V;ENSP00000442048:M569V;ENSP00000291107:M578V;ENSP00000437429:M397V;ENSP00000445198:M66V	ENSP00000291107:M578V	M	-	1	0	ABR	863103	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	3.919000	0.56439	2.220000	0.72140	0.529000	0.55759	ATG		0.632	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206675.4			C	916353	T	C	916353	3	2	685	1	0	0	0	0	1	0	0	0	99	1435	50	3	764	3	ABR	17	916353	Missense_Mutation	SNP	T	TCGA-IZ-8195-01A-31D-2396-08		916353	80278857	62	37879											
CTNS	1497	hgsc.bcm.edu	37	17	3550808	3550808	+	Silent	SNP	C	C	T			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr17:3550808C>T	ENST00000046640.3	+	4	725	c.132C>T	c.(130-132)ctC>ctT	p.L44L	CTNS_ENST00000488623.1_3'UTR|CTNS_ENST00000414524.2_Intron|CTNS_ENST00000399306.2_Silent_p.L44L|CTNS_ENST00000381870.3_Silent_p.L44L|CTNS_ENST00000441220.2_Intron	NM_004937.2	NP_004928.2	O60931	CTNS_HUMAN	cystinosin, lysosomal cystine transporter	44					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)	ACGTCAGCCTCACCCTGCGGT	0.602																																																0													135	100	112					17																	3550808		2203	4300	6503	SO:0001819	synonymous_variant	1497			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.132C>T	chr17.hg19:g.3550808C>T			D3DTJ5|Q8IZ01|Q9UNK6	Silent	SNP	ENST00000046640.3	hg19	CCDS11031.1																																																																																				0.602	CTNS-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317696.1	NM_004937		T	3550808	C	T	3550808	2	4	685	1	0	0	0	0	0	0	0	1	4023	813	29	2		2	CTNS	17	3550808	Silent	SNP	C	TCGA-IZ-8195-01A-31D-2396-08	2634455	3550808	77644402	63	37880											
GPR179	440435	hgsc.bcm.edu	37	17	36486249	36486249	+	Missense_Mutation	SNP	A	A	C			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr17:36486249A>C	ENST00000342292.4	-	11	3223	c.3203T>G	c.(3202-3204)aTc>aGc	p.I1068S	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1068					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)				TTTAGGGAAGATCTTGGGCCT	0.562																																																0													70	76	74					17																	36486249		2078	4209	6287	SO:0001583	missense	440435				CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"GPCR / Class C : Orphans"	31371	protein-coding gene	gene with protein product		614515	"GPR158-like 1", "GPR179"	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.3203T>G	chr17.hg19:g.36486249A>C	ENSP00000345060:p.Ile1068Ser			Missense_Mutation	SNP	ENST00000342292.4	hg19	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	A	0.624	-0.819832	0.02776	.	.	ENSG00000188888	ENST00000342292	T	0.52295	0.67	5.14	2.9	0.33743	.	0.633204	0.14796	N	0.297947	T	0.28200	0.0696	N	0.24115	0.695	0.18873	N	0.999981	B	0.15473	0.013	B	0.14023	0.01	T	0.17592	-1.0364	10	0.25106	T	0.35	-0.9541	3.9932	0.09546	0.6254:0.1793:0.1953:0.0	.	1068	Q6PRD1	GP179_HUMAN	S	1068	ENSP00000345060:I1068S	ENSP00000345060:I1068S	I	-	2	0	GPR179	33739775	0.000000	0.05858	0.494000	0.27515	0.138000	0.21146	-0.354000	0.07681	0.427000	0.26145	0.379000	0.24179	ATC		0.562	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			C	36486249	A	C	36486249	3	2	685	1	0	0	0	0	1	0	0	0	6676	333	12	5	3904	5	GPR179	17	36486249	Missense_Mutation	SNP	A	TCGA-IZ-8195-01A-31D-2396-08	32935441	36486249	44708961	64	37881											
FOXK2	3607	hgsc.bcm.edu	37	17	80543893	80543893	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr17:80543893delC	ENST00000335255.5	+	7	1567	c.1393delC	c.(1393-1395)ccafs	p.P466fs	RP13-638C3.3_ENST00000575085.1_RNA	NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	466					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)			GACCTCCCAGCCACCCGTCGT	0.632																																																0													69	56	60					17																	80543893		2200	4294	6494	SO:0001589	frameshift_variant	3607			U58196	CCDS11813.1	17q25	2006-12-15	2004-03-09	2004-03-10	ENSG00000141568	ENSG00000141568		"Forkhead boxes"	6036	protein-coding gene	gene with protein product		147685	"interleukin enhancer binding factor 1"	ILF, ILF1		3260003	Standard	NM_004514		Approved		uc002kfn.3	Q01167	OTTHUMG00000140374	ENST00000335255.5:c.1393delC	chr17.hg19:g.80543893delC	ENSP00000335677:p.Pro466fs		A6NEP5|Q13622|Q13623|Q13624	Frame_Shift_Del	DEL	ENST00000335255.5	hg19	CCDS11813.1																																																																																				0.632	FOXK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277099.2	NM_181430		-	80543893	C	-	80543893	7	5	685	1	0	1	0	1	0	0	0	0	6017	739	26	0	1419	0	FOXK2	17	80543893	Frame_Shift_Del	DEL	C	TCGA-IZ-8195-01A-31D-2396-08	44057644	80543893	651317	65	37882											
IL29	282618	hgsc.bcm.edu	37	19	39787490	39787490	+	Missense_Mutation	SNP	T	T	G			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr19:39787490T>G	ENST00000333625.2	+	2	314	c.217T>G	c.(217-219)Ttc>Gtc	p.F73V		NM_172140.1	NP_742152.1	Q8IU54	IFNL1_HUMAN	interferon, lambda 1	73					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)										CTCTCCTGTCTTCCCCGGGAA	0.572																																																0													91	86	88					19																	39787490		2203	4300	6503	SO:0001583	missense	282618			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.217T>G	chr19.hg19:g.39787490T>G	ENSP00000329991:p.Phe73Val		A0AV25|Q17R34	Missense_Mutation	SNP	ENST00000333625.2	hg19	CCDS12531.1	.	.	.	.	.	.	.	.	.	.	T	17.77	3.470360	0.63625	.	.	ENSG00000182393	ENST00000333625	T	0.35421	1.31	3.69	3.69	0.42338	.	0.094954	0.46758	D	0.000269	T	0.59770	0.2218	M	0.84846	2.72	0.25011	N	0.991407	D	0.71674	0.998	D	0.71870	0.975	T	0.54098	-0.8344	10	0.66056	D	0.02	-28.5284	10.3642	0.44012	0.0:0.0:0.0:1.0	.	73	Q8IU54	IL29_HUMAN	V	73	ENSP00000329991:F73V	ENSP00000329991:F73V	F	+	1	0	IL29	44479330	0.956000	0.32656	0.939000	0.37840	0.068000	0.16541	1.113000	0.31184	1.553000	0.49476	0.374000	0.22700	TTC		0.572	IFNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463834.1	NM_172140		G	39787490	T	G	39787490	3	3	685	1	0	0	0	0	1	0	0	0	7687	1609	56	5	223	5	IL29	19	39787490	Missense_Mutation	SNP	T	TCGA-IZ-8195-01A-31D-2396-08		39787490	19341493	66	37883											
PRR19	284338	hgsc.bcm.edu	37	19	42814766	42814766	+	Silent	SNP	C	C	T			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr19:42814766C>T	ENST00000499536.2	+	2	1756	c.945C>T	c.(943-945)ccC>ccT	p.P315P	PRR19_ENST00000598490.1_3'UTR|TMEM145_ENST00000301204.3_5'Flank|TMEM145_ENST00000598766.1_5'Flank|PRR19_ENST00000341747.3_Silent_p.P315P			A6NJB7	PRR19_HUMAN	proline rich 19	315	Pro-rich.									NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10		Prostate(69;0.00682)				CTTCATCACCCCTGTTGCCCC	0.652																																																0													71	82	78					19																	42814766		2203	4300	6503	SO:0001819	synonymous_variant	284338			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.945C>T	chr19.hg19:g.42814766C>T			A8K663|B3KW48|Q6P584	Silent	SNP	ENST00000499536.2	hg19	CCDS33036.1																																																																																				0.652	PRR19-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463735.1	NM_199285		T	42814766	C	T	42814766	2	4	685	1	0	0	0	0	0	0	0	1	12596	610	22	2		2	PRR19	19	42814766	Silent	SNP	C	TCGA-IZ-8195-01A-31D-2396-08	3027276	42814766	16314217	67	37884											
RSPH6A	81492	hgsc.bcm.edu	37	19	46317875	46317875	+	Missense_Mutation	SNP	G	G	C			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr19:46317875G>C	ENST00000221538.3	-	1	702	c.560C>G	c.(559-561)gCc>gGc	p.A187G	RSPH6A_ENST00000597055.1_Missense_Mutation_p.A187G|SYMPK_ENST00000598155.1_5'Flank	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	187						intracellular (GO:0005622)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						AGGCACCTGGGCACTGTAGTG	0.612																																																0													41	42	42					19																	46317875		2203	4300	6503	SO:0001583	missense	81492			AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"radial spokehead-like 1"	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.560C>G	chr19.hg19:g.46317875G>C	ENSP00000221538:p.Ala187Gly		Q53FE2|Q6PEZ9	Missense_Mutation	SNP	ENST00000221538.3	hg19	CCDS12675.1	.	.	.	.	.	.	.	.	.	.	G	7.970	0.748802	0.15710	.	.	ENSG00000104941	ENST00000221538	T	0.14022	2.54	4.76	-7.87	0.01183	.	1.573020	0.03646	N	0.240221	T	0.05273	0.0140	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.35822	-0.9773	10	0.12766	T	0.61	-6.7105	6.8603	0.24064	0.3005:0.342:0.3575:0.0	.	187	Q9H0K4	RSH6A_HUMAN	G	187	ENSP00000221538:A187G	ENSP00000221538:A187G	A	-	2	0	RSPH6A	51009715	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.503000	0.06383	-1.022000	0.03346	-0.274000	0.10170	GCC		0.612	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461657.1			C	46317875	G	C	46317875	3	2	685	1	0	0	0	0	1	0	0	0	13713	1203	42	4	1617	4	RSPH6A	19	46317875	Missense_Mutation	SNP	G	TCGA-IZ-8195-01A-31D-2396-08	3503109	46317875	12811108	68	37885											
TMEM190	147744	hgsc.bcm.edu	37	19	55889354	55889354	+	Missense_Mutation	SNP	G	G	A			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr19:55889354G>A	ENST00000291934.3	+	5	335	c.317G>A	c.(316-318)cGc>cAc	p.R106H	CTD-2105E13.15_ENST00000595064.1_RNA	NM_139172.1	NP_631911.1	Q8WZ59	TM190_HUMAN	transmembrane protein 190	106					hematopoietic progenitor cell differentiation (GO:0002244)	inner acrosomal membrane (GO:0002079)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	5	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		TGGGCCAAGCGCCGGGACGTG	0.716																																																0													26	25	26					19																	55889354		2197	4281	6478	SO:0001583	missense	147744			AF442729	CCDS33113.1	19q13.42	2011-09-28				ENSG00000160472			29632	protein-coding gene	gene with protein product						21273369	Standard	NM_139172		Approved	MDAC1	uc002qkt.1	Q8WZ59		ENST00000291934.3:c.317G>A	chr19.hg19:g.55889354G>A	ENSP00000291934:p.Arg106His		A6NJL5	Missense_Mutation	SNP	ENST00000291934.3	hg19	CCDS33113.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.587005	0.46110	.	.	ENSG00000160472	ENST00000291934	.	.	.	3.02	3.02	0.34903	.	0.000000	0.41938	D	0.000798	T	0.51329	0.1668	L	0.27053	0.805	0.33174	D	0.548688	D	0.76494	0.999	D	0.78314	0.991	T	0.62530	-0.6835	9	0.87932	D	0	-26.0952	9.7157	0.40274	0.0:0.0:1.0:0.0	.	106	Q8WZ59	TM190_HUMAN	H	106	.	ENSP00000291934:R106H	R	+	2	0	TMEM190	60581166	0.763000	0.28462	0.922000	0.36590	0.142000	0.21351	2.515000	0.45512	1.995000	0.58328	0.313000	0.20887	CGC		0.716	TMEM190-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453042.1	NM_139172		A	55889354	G	A	55889354	3	1	685	1	0	0	0	0	1	0	0	0	16119	1087	38	1	335	1	TMEM190	19	55889354	Missense_Mutation	SNP	G	TCGA-IZ-8195-01A-31D-2396-08	9571479	55889354	3239629	69	37886											
PEG3	5178	hgsc.bcm.edu	37	19	57325186	57325186	+	Missense_Mutation	SNP	A	A	G	rs530969342		TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr19:57325186A>G	ENST00000326441.9	-	10	4987	c.4624T>C	c.(4624-4626)Tgc>Cgc	p.C1542R	ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.C1542R|PEG3_ENST00000593695.1_Missense_Mutation_p.C1416R|PEG3_ENST00000598410.1_Missense_Mutation_p.C1418R|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1542					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)		TAGCCTGAGCACTCCCCAAAG	0.488													A|||	0	0.0	0.0	0.0	5008	,	,		21323	0.0		0.0	False		,,,				2504	0.0															0													158	137	144					19																	57325186		2203	4300	6503	SO:0001583	missense	5178			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.4624T>C	chr19.hg19:g.57325186A>G	ENSP00000326581:p.Cys1542Arg		A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	hg19	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	A	10.68	1.417219	0.25552	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.03330	3.97;3.97	3.95	-1.91	0.07641	.	0.139082	0.33712	N	0.004636	T	0.01800	0.0057	N	0.19112	0.55	.	.	.	B;B;B	0.29432	0.159;0.244;0.244	B;B;B	0.29176	0.031;0.047;0.099	T	0.41324	-0.9515	9	0.23302	T	0.38	-3.4232	0.998	0.01471	0.2243:0.3544:0.1312:0.2901	.	1418;1542;1477	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	R	1542	ENSP00000326581:C1542R;ENSP00000403051:C1542R	ENSP00000326581:C1542R	C	-	1	0	ZIM2	62016998	0.001000	0.12720	0.008000	0.14137	0.951000	0.60555	0.315000	0.19451	-0.525000	0.06391	0.482000	0.46254	TGC		0.488	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			G	57325186	A	G	57325186	3	3	685	1	0	0	0	0	1	0	0	0	11722	159	6	3	146	3	PEG3	19	57325186	Missense_Mutation	SNP	A	TCGA-IZ-8195-01A-31D-2396-08	1435832	57325186	1803797	70	37887											
SAMHD1	25939	hgsc.bcm.edu	37	20	35532631	35532631	+	Missense_Mutation	SNP	T	T	C			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr20:35532631T>C	ENST00000262878.4	-	13	1631	c.1432A>G	c.(1432-1434)Aaa>Gaa	p.K478E		NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	478					dATP catabolic process (GO:0046061)|defense response to virus (GO:0051607)|dGTP catabolic process (GO:0006203)|immune response (GO:0006955)|innate immune response (GO:0045087)|protein homotetramerization (GO:0051289)|regulation of innate immune response (GO:0045088)	intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dGTP binding (GO:0032567)|dGTPase activity (GO:0008832)|nucleic acid binding (GO:0003676)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				GCAACCTCTTTTGGAAGAGAT	0.388																																																0													167	160	163					20																	35532631		2203	4300	6503	SO:0001583	missense	25939			AF228421	CCDS13288.1	20q11.23	2014-09-17			ENSG00000101347	ENSG00000101347		"Sterile alpha motif (SAM) domain containing"	15925	protein-coding gene	gene with protein product	"HD domain containing 1", "monocyte protein 5", "Aicardi-Goutieres syndrome 5"	606754				11064105, 11230166	Standard	NM_015474		Approved	SBBI88, Mg11, HDDC1, MOP-5, AGS5	uc002xgh.2	Q9Y3Z3	OTTHUMG00000032402	ENST00000262878.4:c.1432A>G	chr20.hg19:g.35532631T>C	ENSP00000262878:p.Lys478Glu		B4E2A5|E1P5V2|Q5JXG8|Q8N491|Q9H004|Q9H005|Q9H3U9	Missense_Mutation	SNP	ENST00000262878.4	hg19	CCDS13288.1	.	.	.	.	.	.	.	.	.	.	T	3.335	-0.135924	0.06711	.	.	ENSG00000101347	ENST00000262878	D	0.95035	-3.59	5.58	-1.17	0.09648	.	0.908554	0.09627	N	0.776782	T	0.81880	0.4916	N	0.05012	-0.13	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.70040	-0.4981	10	0.12103	T	0.63	-4.9058	2.7471	0.05270	0.1081:0.3573:0.2665:0.2681	.	478	Q9Y3Z3	SAMH1_HUMAN	E	478	ENSP00000262878:K478E	ENSP00000262878:K478E	K	-	1	0	SAMHD1	34966045	0.001000	0.12720	0.005000	0.12908	0.362000	0.29581	-0.100000	0.10990	-0.173000	0.10761	0.460000	0.39030	AAA		0.388	SAMHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079062.2	NM_015474		C	35532631	T	C	35532631	3	2	685	1	0	0	0	0	1	0	0	0	13834	1850	64	3	464	3	SAMHD1	20	35532631	Missense_Mutation	SNP	T	TCGA-IZ-8195-01A-31D-2396-08		35532631	27492889	71	37888											
SFRS15	57466	hgsc.bcm.edu	37	21	33057763	33057763	+	Silent	SNP	A	A	G			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr21:33057763A>G	ENST00000286835.7	-	18	2626	c.2244T>C	c.(2242-2244)acT>acC	p.T748T	SCAF4_ENST00000434667.3_Silent_p.T733T|SCAF4_ENST00000399804.1_Silent_p.T748T	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	748						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						ATACTGGTGGAGTTATAGGAG	0.433																																																0													92	94	93					21																	33057763		2203	4300	6503	SO:0001819	synonymous_variant	57466			AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"RNA binding motif (RRM) containing"	19304	protein-coding gene	gene with protein product			"splicing factor, arginine/serine-rich 15"	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.2244T>C	chr21.hg19:g.33057763A>G			C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Silent	SNP	ENST00000286835.7	hg19	CCDS33537.1																																																																																				0.433	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889		G	33057763	A	G	33057763	2	3	685	1	0	0	0	0	0	0	0	1	14177	291	11	3		3	SFRS15	21	33057763	Silent	SNP	A	TCGA-IZ-8195-01A-31D-2396-08		33057763	15072132	72	37889											
DDI2	84301	hgsc.bcm.edu	37	1	15956839	15956839	+	Silent	SNP	C	C	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr1:15956839C>T	ENST00000480945.1	+	3	459	c.288C>T	c.(286-288)ttC>ttT	p.F96F		NM_032341.4	NP_115717.3	Q5TDH0	DDI2_HUMAN	DNA-damage inducible 1 homolog 2 (S. cerevisiae)	96							aspartic-type endopeptidase activity (GO:0004190)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		GAATAGATTTCAGTAGTATAG	0.463																																																0													87	90	89					1																	15956839		2203	4300	6503	SO:0001819	synonymous_variant	84301				CCDS30607.1	1p36.13	2010-05-04	2010-05-04		ENSG00000197312	ENSG00000197312			24578	protein-coding gene	gene with protein product			"DDI1, DNA-damage inducible 1, homolog 2 (S. cerevisiae)"				Standard	NM_032341		Approved	MGC14844	uc001awx.2	Q5TDH0	OTTHUMG00000002381	ENST00000480945.1:c.288C>T	chr1.hg19:g.15956839C>T			A8KAE1|Q7RTZ0|Q9BRT1	Silent	SNP	ENST00000480945.1	hg19	CCDS30607.1																																																																																				0.463	DDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006826.1	NM_032341		T	15956839	C	T	15956839	2	4	686	1	0	0	0	0	0	0	0	1	4331	825	29	2		2	DDI2	1	15956839	Silent	SNP	C	TCGA-IZ-8196-01A-11D-2396-08		15956839	233293782	1	37890											
MSH4	4438	hgsc.bcm.edu	37	1	76269502	76269502	+	Missense_Mutation	SNP	G	G	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr1:76269502G>A	ENST00000263187.3	+	2	435	c.331G>A	c.(331-333)Gat>Aat	p.D111N		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	111					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						TTCTGCACGAGATACTAATTA	0.363								Mismatch excision repair (MMR)																																								0													97	101	100					1																	76269502		2203	4300	6503	SO:0001583	missense	4438			U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"mutS (E. coli) homolog 4", "mutS homolog 4 (E. coli)"			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.331G>A	chr1.hg19:g.76269502G>A	ENSP00000263187:p.Asp111Asn		Q5T4U6|Q8NEB3|Q9UNP8	Missense_Mutation	SNP	ENST00000263187.3	hg19	CCDS670.1	.	.	.	.	.	.	.	.	.	.	G	10.35	1.326532	0.24080	.	.	ENSG00000057468	ENST00000263187	D	0.87256	-2.23	4.73	3.81	0.43845	.	0.591556	0.15780	N	0.245000	T	0.61776	0.2374	N	0.24115	0.695	0.09310	N	1	B	0.19817	0.039	B	0.11329	0.006	T	0.55392	-0.8148	10	0.49607	T	0.09	-16.9831	6.3049	0.21133	0.16:0.0:0.6929:0.147	.	111	O15457	MSH4_HUMAN	N	111	ENSP00000263187:D111N	ENSP00000263187:D111N	D	+	1	0	MSH4	76042090	0.920000	0.31207	0.889000	0.34880	0.806000	0.45545	3.225000	0.51246	0.984000	0.38629	-0.266000	0.10368	GAT		0.363	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026983.1	NM_002440		A	76269502	G	A	76269502	3	1	686	1	0	0	0	0	1	0	0	0	9874	942	33	2	337	2	MSH4	1	76269502	Missense_Mutation	SNP	G	TCGA-IZ-8196-01A-11D-2396-08	60312663	76269502	172981119	2	37891											
LRRC8C	84230	hgsc.bcm.edu	37	1	90180228	90180228	+	Missense_Mutation	SNP	C	C	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr1:90180228C>A	ENST00000370454.4	+	3	2354	c.2099C>A	c.(2098-2100)cCt>cAt	p.P700H	LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	700					fat cell differentiation (GO:0045444)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		TTTATCCCCCCTGAAATTGGA	0.383																																																0													68	63	65					1																	90180228		2203	4299	6502	SO:0001583	missense	84230				CCDS725.1	1p22.2	2011-02-10			ENSG00000171488	ENSG00000171488			25075	protein-coding gene	gene with protein product	"hypothetical protein AD158"	612889				11230166	Standard	NM_032270		Approved	AD158	uc001dnl.4	Q8TDW0	OTTHUMG00000010305	ENST00000370454.4:c.2099C>A	chr1.hg19:g.90180228C>A	ENSP00000359483:p.Pro700His		B3KXS9|Q29RV6|Q9H075	Missense_Mutation	SNP	ENST00000370454.4	hg19	CCDS725.1	.	.	.	.	.	.	.	.	.	.	C	12.14	1.849986	0.32699	.	.	ENSG00000171488	ENST00000370454	T	0.25414	1.8	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.24353	0.0590	M	0.78049	2.395	0.80722	D	1	B	0.25351	0.124	B	0.24269	0.052	T	0.02789	-1.1110	10	0.35671	T	0.21	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	700	Q8TDW0	LRC8C_HUMAN	H	700	ENSP00000359483:P700H	ENSP00000359483:P700H	P	+	2	0	LRRC8C	89952816	1.000000	0.71417	0.801000	0.32222	0.989000	0.77384	6.050000	0.71063	2.941000	0.99782	0.655000	0.94253	CCT		0.383	LRRC8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028435.2	NM_032270		A	90180228	C	A	90180228	3	1	686	1	0	0	0	0	1	0	0	0	9025	681	24	4	2105	4	LRRC8C	1	90180228	Missense_Mutation	SNP	C	TCGA-IZ-8196-01A-11D-2396-08	13910726	90180228	159070393	3	37892											
RBM15	64783	hgsc.bcm.edu	37	1	110882978	110882978	+	Silent	SNP	T	T	C			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr1:110882978T>C	ENST00000369784.3	+	1	1851	c.951T>C	c.(949-951)ccT>ccC	p.P317P	RBM15_ENST00000602849.1_Silent_p.P317P|RP5-1074L1.1_ENST00000449169.1_RNA|RBM15_ENST00000487146.2_Silent_p.P317P	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	317					negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		GCCTGCCCCCTCCACCTCCGC	0.607			T	MKL1	acute megakaryocytic leukemia																																		Dom	yes		1	1p13	64783	RNA binding motif protein 15		L	0													46	52	50					1																	110882978		2203	4300	6503	SO:0001819	synonymous_variant	64783			AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"RNA binding motif (RRM) containing"	14959	protein-coding gene	gene with protein product	"one twenty-two"	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.951T>C	chr1.hg19:g.110882978T>C			A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Silent	SNP	ENST00000369784.3	hg19	CCDS822.1																																																																																				0.607	RBM15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000031114.2	NM_022768		C	110882978	T	C	110882978	2	2	686	1	0	0	0	0	0	0	0	1	13122	1538	54	3		3	RBM15	1	110882978	Silent	SNP	T	TCGA-IZ-8196-01A-11D-2396-08	20702750	110882978	138367643	4	37893											
ANKRD35	148741	hgsc.bcm.edu	37	1	145561688	145561688	+	Missense_Mutation	SNP	A	A	G			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr1:145561688A>G	ENST00000355594.4	+	10	1463	c.1376A>G	c.(1375-1377)cAg>cGg	p.Q459R		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	459										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CATGCTGACCAGCTGCCTGCT	0.592																																					Melanoma(9;127 754 22988 51047)											0													55	63	60					1																	145561688		2203	4300	6503	SO:0001583	missense	148741			AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"Ankyrin repeat domain containing"	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.1376A>G	chr1.hg19:g.145561688A>G	ENSP00000347802:p.Gln459Arg		A6NEU0|B4DL62|Q3MJ10|Q96LS3	Missense_Mutation	SNP	ENST00000355594.4	hg19	CCDS919.1	.	.	.	.	.	.	.	.	.	.	a	0.294	-0.978340	0.02197	.	.	ENSG00000198483	ENST00000453670;ENST00000355594	T	0.67698	-0.28	5.54	0.0734	0.14390	.	0.859396	0.09865	N	0.745663	T	0.33760	0.0874	M	0.63428	1.95	0.09310	N	1	B	0.26935	0.164	B	0.22601	0.04	T	0.16158	-1.0412	10	0.27785	T	0.31	-2.3373	2.517	0.04670	0.4852:0.2931:0.0804:0.1412	.	459	Q8N283	ANR35_HUMAN	R	368;459	ENSP00000347802:Q459R	ENSP00000347802:Q459R	Q	+	2	0	ANKRD35	144273045	0.003000	0.15002	0.000000	0.03702	0.002000	0.02628	1.054000	0.30455	0.044000	0.15775	-0.253000	0.11424	CAG		0.592	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	NM_144698		G	145561688	A	G	145561688	3	3	686	1	0	0	0	0	1	0	0	0	664	188	7	3	1414	3	ANKRD35	1	145561688	Missense_Mutation	SNP	A	TCGA-IZ-8196-01A-11D-2396-08	34678710	145561688	103688933	5	37894											
ATP8B2	57198	hgsc.bcm.edu	37	1	154314963	154314968	+	In_Frame_Del	DEL	GTTTGA	GTTTGA	-			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	GTTTGA	GTTTGA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr1:154314963_154314968delGTTTGA	ENST00000368489.3	+	14	1350_1355	c.1350_1355delGTTTGA	c.(1348-1356)gtgtttgac>gtc	p.FD451del		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	437					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	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)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TAGGTGATGTGTTTGACGTCCTGGGA	0.49																																																0																																										SO:0001651	inframe_deletion	57198			AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"ATPases / P-type"	13534	protein-coding gene	gene with protein product		605867	"ATPase, class I, type 8B, member 2"			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.1350_1355delGTTTGA	chr1.hg19:g.154314963_154314968delGTTTGA	ENSP00000357475:p.Phe451_Asp452del		B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	In_Frame_Del	DEL	ENST00000368489.3	hg19	CCDS1066.1																																																																																				0.49	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2	NM_020452		-	154314968	GTTTGA	-	154314963	7	5	686	1	0	1	0	1	0	0	0	0	1195	1364	48	0	1534	0	ATP8B2	1	154314963	In_Frame_Del	DEL	GTTTGA	TCGA-IZ-8196-01A-11D-2396-08	8753275	154314963	94935658	6	37895											
MAEL	84944	hgsc.bcm.edu	37	1	166974561	166974561	+	Missense_Mutation	SNP	C	C	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr1:166974561C>A	ENST00000367872.4	+	8	1016	c.772C>A	c.(772-774)Ctc>Atc	p.L258I	MAEL_ENST00000367870.2_Missense_Mutation_p.L227I|RNA5SP65_ENST00000363166.1_RNA|MAEL_ENST00000491055.1_3'UTR	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	258					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						ACAAAAATTTCTCAAGGAGCC	0.398																																																0													73	78	76					1																	166974561		2203	4300	6503	SO:0001583	missense	84944			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.772C>A	chr1.hg19:g.166974561C>A	ENSP00000356846:p.Leu258Ile		B4DY43|E9JVC3|Q49AP9|Q5VZP8|Q9UIW6	Missense_Mutation	SNP	ENST00000367872.4	hg19	CCDS1257.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.825645	0.32237	.	.	ENSG00000143194	ENST00000367872;ENST00000367870;ENST00000447624	T;T;T	0.47869	0.85;0.83;0.85	5.66	4.75	0.60458	.	0.324591	0.26193	N	0.025795	T	0.13927	0.0337	N	0.08118	0	0.23765	N	0.996906	B;B	0.32071	0.301;0.355	B;B	0.38225	0.209;0.268	T	0.05920	-1.0856	10	0.42905	T	0.14	.	7.8331	0.29355	0.0:0.7505:0.1634:0.086	.	227;258	E9JVC3;Q96JY0	.;MAEL_HUMAN	I	258;227;227	ENSP00000356846:L258I;ENSP00000356844:L227I;ENSP00000402143:L227I	ENSP00000356844:L227I	L	+	1	0	MAEL	165241185	0.611000	0.26992	0.982000	0.44146	0.989000	0.77384	1.344000	0.33941	1.389000	0.46526	0.591000	0.81541	CTC		0.398	MAEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083239.1	NM_032858		A	166974561	C	A	166974561	3	1	686	1	0	0	0	0	1	0	0	0	9156	913	32	4	802	4	MAEL	1	166974561	Missense_Mutation	SNP	C	TCGA-IZ-8196-01A-11D-2396-08	12659598	166974561	82276060	7	37896											
CNTN2	6900	hgsc.bcm.edu	37	1	205028742	205028742	+	Silent	SNP	C	C	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr1:205028742C>A	ENST00000331830.4	+	7	1013	c.729C>A	c.(727-729)gcC>gcA	p.A243A	AL583832.1_ENST00000515887.1_RNA	NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	243	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)			GCATCAAGGCCCGGTTCCCAG	0.582																																					Melanoma(183;2548 2817 37099 41192)											0													90	91	91					1																	205028742		2203	4300	6503	SO:0001819	synonymous_variant	6900			X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.729C>A	chr1.hg19:g.205028742C>A			P78432|Q5T054	Silent	SNP	ENST00000331830.4	hg19	CCDS1449.1																																																																																				0.582	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3	NM_005076		A	205028742	C	A	205028742	2	1	686	1	0	0	0	0	0	0	0	1	3643	610	22	4		4	CNTN2	1	205028742	Silent	SNP	C	TCGA-IZ-8196-01A-11D-2396-08	38054181	205028742	44221879	8	37897											
AHCTF1	25909	hgsc.bcm.edu	37	1	247070995	247070995	+	Missense_Mutation	SNP	C	C	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr1:247070995C>T	ENST00000391829.2	-	5	745	c.622G>A	c.(622-624)Ggg>Agg	p.G208R	AHCTF1_ENST00000366508.1_Missense_Mutation_p.G243R|AHCTF1_ENST00000326225.3_Missense_Mutation_p.G217R			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	208	Necessary for cytoplasmic localization. {ECO:0000250}.|Seven-bladed beta propeller repeats. {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)			AGATGGCGCCCTTGTCTCATT	0.383																																					Colon(145;197 1800 4745 15099 26333)											0													135	127	130					1																	247070995		2203	4300	6503	SO:0001583	missense	25909				CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"ELYS transcription factor like protein TMBS62"	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.622G>A	chr1.hg19:g.247070995C>T	ENSP00000375705:p.Gly208Arg		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	ENST00000391829.2	hg19		.	.	.	.	.	.	.	.	.	.	C	22.0	4.223797	0.79576	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.20738	2.05;2.05;2.05	5.76	5.76	0.90799	.	0.051494	0.85682	D	0.000000	T	0.26195	0.0639	N	0.19112	0.55	0.58432	D	0.999999	D;D	0.59767	0.986;0.981	P;P	0.56474	0.799;0.706	T	0.00761	-1.1577	10	0.37606	T	0.19	-24.8597	15.7857	0.78300	0.0:0.8645:0.1355:0.0	.	243;208	Q8WYP5-2;Q8WYP5	.;ELYS_HUMAN	R	243;217;208	ENSP00000355464:G243R;ENSP00000355465:G217R;ENSP00000375705:G208R	ENSP00000355465:G217R	G	-	1	0	AHCTF1	245137618	1.000000	0.71417	0.982000	0.44146	0.994000	0.84299	5.686000	0.68211	2.880000	0.98712	0.650000	0.86243	GGG		0.383	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		T	247070995	C	T	247070995	3	4	686	1	0	0	0	0	1	0	0	0	408	681	24	2	6306	2	AHCTF1	1	247070995	Missense_Mutation	SNP	C	TCGA-IZ-8196-01A-11D-2396-08	42042253	247070995	2179626	9	37898											
OR2L8	391190	hgsc.bcm.edu	37	1	248112473	248112473	+	Missense_Mutation	SNP	C	C	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr1:248112473C>T	ENST00000357191.3	+	1	314	c.314C>T	c.(313-315)gCa>gTa	p.A105V	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	105						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(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	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;0.0152)			TTCTTCTTGGCATTAGGAGGT	0.433																																																0													335	270	292					1																	248112473		2203	4300	6503	SO:0001583	missense	391190			BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"GPCR / Class A : Olfactory receptors"	15014	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily L, member 8"				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.314C>T	chr1.hg19:g.248112473C>T	ENSP00000349719:p.Ala105Val		Q6IF03	Missense_Mutation	SNP	ENST00000357191.3	hg19	CCDS31101.1	.	.	.	.	.	.	.	.	.	.	.	8.579	0.881879	0.17467	.	.	ENSG00000196936	ENST00000357191	T	0.00349	7.99	1.64	1.64	0.23874	GPCR, rhodopsin-like superfamily (1);	0.542717	0.13750	U	0.365321	T	0.00178	0.0005	N	0.20483	0.58	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.41805	-0.9488	10	0.87932	D	0	.	3.6931	0.08354	0.0:0.5144:0.0:0.4856	.	105	Q8NGY9	OR2L8_HUMAN	V	105	ENSP00000349719:A105V	ENSP00000349719:A105V	A	+	2	0	OR2L8	246179096	0.000000	0.05858	0.699000	0.30290	0.027000	0.11550	-0.195000	0.09546	0.905000	0.36596	0.479000	0.44913	GCA		0.433	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2			T	248112473	C	T	248112473	3	4	686	1	0	0	0	0	1	0	0	0	11011	710	25	2	316	2	OR2L8	1	248112473	Missense_Mutation	SNP	C	TCGA-IZ-8196-01A-11D-2396-08	1041478	248112473	1138148	10	37899											
MBOAT2	129642	hgsc.bcm.edu	37	2	9002791	9002791	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr2:9002791delA	ENST00000305997.3	-	11	1312	c.1114delT	c.(1114-1116)tggfs	p.W372fs	MBOAT2_ENST00000486484.1_5'UTR	NM_138799.2	NP_620154.2	Q6ZWT7	MBOA2_HUMAN	membrane bound O-acyltransferase domain containing 2	372					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)		MBOAT2/PRKCE(2)	endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACCCCGTGCCAAATGGCAGAG	0.408																																					Ovarian(194;1699 3813 22401)											0													96	91	93					2																	9002791		2203	4300	6503	SO:0001589	frameshift_variant	129642			BC016005	CCDS1660.1	2p25	2008-02-05	2006-06-29	2006-06-29	ENSG00000143797	ENSG00000143797			25193	protein-coding gene	gene with protein product		611949	"O-acyltransferase (membrane bound) domain containing 2"	OACT2			Standard	NM_138799		Approved	FLJ14415, FLJ90298	uc002qzg.1	Q6ZWT7	OTTHUMG00000090363	ENST00000305997.3:c.1114delT	chr2.hg19:g.9002791delA	ENSP00000302177:p.Trp372fs		A9EDR2|Q8NCE7|Q96KY4	Frame_Shift_Del	DEL	ENST00000305997.3	hg19	CCDS1660.1																																																																																				0.408	MBOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206735.1	NM_138799		-	9002791	A	-	9002791	7	5	686	1	0	1	0	1	0	0	0	0	9359	130	5	0	460	0	MBOAT2	2	9002791	Frame_Shift_Del	DEL	A	TCGA-IZ-8196-01A-11D-2396-08		9002791	234196582	11	37900											
LPIN1	23175	hgsc.bcm.edu	37	2	11960558	11960558	+	Missense_Mutation	SNP	G	G	C			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr2:11960558G>C	ENST00000256720.2	+	19	2524	c.2431G>C	c.(2431-2433)Gta>Cta	p.V811L	LPIN1_ENST00000396099.1_Missense_Mutation_p.V853L|LPIN1_ENST00000449576.2_Missense_Mutation_p.V896L|LPIN1_ENST00000396097.1_Missense_Mutation_p.V541L|LPIN1_ENST00000404113.2_Missense_Mutation_p.V312L|LPIN1_ENST00000425416.2_Missense_Mutation_p.V817L	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	811	C-LIP.				cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		ATACAAGCAAGTAGGAGTGTC	0.348																																																0													117	110	112					2																	11960558		2203	4300	6503	SO:0001583	missense	23175			D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.2431G>C	chr2.hg19:g.11960558G>C	ENSP00000256720:p.Val811Leu		A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Missense_Mutation	SNP	ENST00000256720.2	hg19	CCDS1682.1	.	.	.	.	.	.	.	.	.	.	G	35	5.510636	0.96386	.	.	ENSG00000134324	ENST00000449576;ENST00000396099;ENST00000425416;ENST00000256720;ENST00000396097;ENST00000404113	T;T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27;-1.27	6.02	6.02	0.97574	HAD-like domain (2);LNS2, Lipin/Ned1/Smp2 (2);	0.055717	0.64402	D	0.000001	D	0.90007	0.6880	M	0.87682	2.9	0.80722	D	1	D;D;D	0.64830	0.994;0.988;0.975	D;P;P	0.68039	0.955;0.907;0.883	D	0.90458	0.4444	10	0.87932	D	0	-24.1549	20.5407	0.99260	0.0:0.0:1.0:0.0	.	312;896;811	B4DET9;F5GY24;Q14693	.;.;LPIN1_HUMAN	L	896;853;817;811;541;312	ENSP00000397908:V896L;ENSP00000379406:V853L;ENSP00000401522:V817L;ENSP00000256720:V811L;ENSP00000379404:V541L;ENSP00000386120:V312L	ENSP00000256720:V811L	V	+	1	0	LPIN1	11878009	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.357000	0.97099	2.865000	0.98341	0.655000	0.94253	GTA		0.348	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239296.3	NM_145693		C	11960558	G	C	11960558	3	2	686	1	0	0	0	0	1	0	0	0	8920	1029	36	4	2501	4	LPIN1	2	11960558	Missense_Mutation	SNP	G	TCGA-IZ-8196-01A-11D-2396-08	2957767	11960558	231238815	12	37901	289	2									
LPIN1	23175	hgsc.bcm.edu	37	2	11960560	11960560	+	Silent	SNP	A	A	G			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr2:11960560A>G	ENST00000256720.2	+	19	2526	c.2433A>G	c.(2431-2433)gtA>gtG	p.V811V	LPIN1_ENST00000396099.1_Silent_p.V853V|LPIN1_ENST00000449576.2_Silent_p.V896V|LPIN1_ENST00000396097.1_Silent_p.V541V|LPIN1_ENST00000404113.2_Silent_p.V312V|LPIN1_ENST00000425416.2_Silent_p.V817V	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	811	C-LIP.				cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		ACAAGCAAGTAGGAGTGTCTT	0.348																																																0													118	111	113					2																	11960560		2203	4300	6503	SO:0001819	synonymous_variant	23175			D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.2433A>G	chr2.hg19:g.11960560A>G			A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Silent	SNP	ENST00000256720.2	hg19	CCDS1682.1																																																																																				0.348	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239296.3	NM_145693		G	11960560	A	G	11960560	2	3	686	1	0	0	0	0	0	0	0	1	8920	407	15	3		3	LPIN1	2	11960560	Silent	SNP	A	TCGA-IZ-8196-01A-11D-2396-08	2	11960560	231238813	13	37902	289	2									
KIF3C	3797	hgsc.bcm.edu	37	2	26178417	26178417	+	Missense_Mutation	SNP	A	A	C			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr2:26178417A>C	ENST00000264712.3	-	3	2342	c.1763T>G	c.(1762-1764)cTc>cGc	p.L588R	KIF3C_ENST00000405914.1_Missense_Mutation_p.L588R	NM_002254.6	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	588					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle transport along microtubule (GO:0072384)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACCTTCTTGAGTTTCTTGGT	0.587																																																0													229	186	200					2																	26178417		2203	4300	6503	SO:0001583	missense	3797				CCDS1719.1	2p23	2008-02-05			ENSG00000084731	ENSG00000084731		"Kinesins"	6321	protein-coding gene	gene with protein product		602845				9480755	Standard	NM_002254		Approved		uc002rgu.2	O14782	OTTHUMG00000094797	ENST00000264712.3:c.1763T>G	chr2.hg19:g.26178417A>C	ENSP00000264712:p.Leu588Arg		O43544|Q4ZG18|Q53SX5|Q562F7	Missense_Mutation	SNP	ENST00000264712.3	hg19	CCDS1719.1	.	.	.	.	.	.	.	.	.	.	A	18.30	3.593287	0.66219	.	.	ENSG00000084731	ENST00000264712;ENST00000542511;ENST00000405914	T;T	0.78481	-1.18;-1.18	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.81669	0.4871	M	0.92026	3.265	0.80722	D	1	B;B	0.30686	0.095;0.29	B;B	0.28638	0.037;0.092	D	0.83422	0.0033	10	0.72032	D	0.01	.	13.0867	0.59144	1.0:0.0:0.0:0.0	.	588;588	B7ZM25;O14782	.;KIF3C_HUMAN	R	588;394;588	ENSP00000264712:L588R;ENSP00000385030:L588R	ENSP00000264712:L588R	L	-	2	0	KIF3C	26031921	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.119000	0.94362	1.998000	0.58463	0.459000	0.35465	CTC		0.587	KIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211611.1			C	26178417	A	C	26178417	3	2	686	1	0	0	0	0	1	0	0	0	8304	304	11	5	642	5	KIF3C	2	26178417	Missense_Mutation	SNP	A	TCGA-IZ-8196-01A-11D-2396-08	14217857	26178417	217020956	14	37903											
RBKS	64080	hgsc.bcm.edu	37	2	28004505	28004506	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr2:28004505_28004506insT	ENST00000302188.3	-	8	1697_1698	c.945_946insA	c.(943-948)aaagacfs	p.D316fs	AC110084.1_ENST00000601759.1_Intron	NM_022128.1	NP_071411.1	Q9H477	RBSK_HUMAN	ribokinase	316					D-ribose catabolic process (GO:0019303)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ribokinase activity (GO:0004747)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(172;0.155)					AGCGGAAGGTCTTTTTTGTAAG	0.421																																																0																																										SO:0001589	frameshift_variant	64080			BC017425	CCDS1762.1	2p23.3	2008-02-05			ENSG00000171174	ENSG00000171174	2.7.1.15		30325	protein-coding gene	gene with protein product		611132				8382990	Standard	NM_022128		Approved	DKFZp686G13268, RBSK	uc002rlo.1	Q9H477	OTTHUMG00000097833	ENST00000302188.3:c.946dupA	chr2.hg19:g.28004511_28004511dupT	ENSP00000306817:p.Asp316fs		A9UK04|B4DV96	Frame_Shift_Ins	INS	ENST00000302188.3	hg19	CCDS1762.1																																																																																				0.421	RBKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215118.1	NM_022128		T	28004506	-	T	28004505	7	5	686	1	0	1	1	0	0	0	0	0	13114	913	32	0	26	0	RBKS	2	28004505	Frame_Shift_Ins	INS	-	TCGA-IZ-8196-01A-11D-2396-08	1826088	28004505	215194868	15	37904											
CLIP4	79745	hgsc.bcm.edu	37	2	29379236	29379236	+	Silent	SNP	A	A	G			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr2:29379236A>G	ENST00000320081.5	+	10	1437	c.1182A>G	c.(1180-1182)aaA>aaG	p.K394K	CLIP4_ENST00000401617.2_Silent_p.K287K|CLIP4_ENST00000404424.1_Silent_p.K394K|CLIP4_ENST00000401605.1_Silent_p.K394K	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	394										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					TGACATCAAAAAAAGATAGTG	0.313																																																0													73	74	74					2																	29379236		2203	4298	6501	SO:0001819	synonymous_variant	79745			AK024722	CCDS1770.1, CCDS74502.1	2p23	2013-01-10	2007-01-04	2007-01-04	ENSG00000115295	ENSG00000115295		"Ankyrin repeat domain containing"	26108	protein-coding gene	gene with protein product			"restin-like 2"	RSNL2			Standard	XM_005264562		Approved	FLJ21069	uc002rmv.3	Q8N3C7	OTTHUMG00000097837	ENST00000320081.5:c.1182A>G	chr2.hg19:g.29379236A>G			A0AV10|B2RMQ3|B7Z7N8|Q7Z4U3|Q96BR7|Q96MA5|Q9H7C0	Silent	SNP	ENST00000320081.5	hg19	CCDS1770.1																																																																																				0.313	CLIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215123.2	NM_024692		G	29379236	A	G	29379236	2	3	686	1	0	0	0	0	0	0	0	1	3537	11	1	3		3	CLIP4	2	29379236	Silent	SNP	A	TCGA-IZ-8196-01A-11D-2396-08	1374731	29379236	213820137	16	37905											
PLEKHH2	130271	hgsc.bcm.edu	37	2	43953471	43953471	+	Missense_Mutation	SNP	G	G	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr2:43953471G>T	ENST00000282406.4	+	17	2712	c.2602G>T	c.(2602-2604)Gat>Tat	p.D868Y		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	868	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CAGATCTTGTGATTCAGATGA	0.388																																																0													108	102	104					2																	43953471		2203	4300	6503	SO:0001583	missense	130271			AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"Pleckstrin homology (PH) domain containing"	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.2602G>T	chr2.hg19:g.43953471G>T	ENSP00000282406:p.Asp868Tyr		Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	hg19	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.667945	0.88348	.	.	ENSG00000152527	ENST00000282406	T	0.77750	-1.12	5.57	5.57	0.84162	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.049073	0.85682	D	0.000000	D	0.88887	0.6559	M	0.77313	2.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.991	D	0.89680	0.3890	10	0.87932	D	0	-23.2912	19.5645	0.95388	0.0:0.0:1.0:0.0	.	868;305	Q8IVE3;Q8IVE3-2	PKHH2_HUMAN;.	Y	868	ENSP00000282406:D868Y	ENSP00000282406:D868Y	D	+	1	0	PLEKHH2	43806975	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.386000	0.97228	2.599000	0.87857	0.650000	0.86243	GAT		0.388	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		T	43953471	G	T	43953471	3	4	686	1	0	0	0	0	1	0	0	0	12079	1290	45	4	2664	4	PLEKHH2	2	43953471	Missense_Mutation	SNP	G	TCGA-IZ-8196-01A-11D-2396-08	14574235	43953471	199245902	17	37906											
DNAH6	1768	hgsc.bcm.edu	37	2	84777109	84777109	+	Silent	SNP	A	A	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr2:84777109A>T	ENST00000237449.6	+	8	1421	c.1413A>T	c.(1411-1413)ctA>ctT	p.L471L	DNAH6_ENST00000389394.3_Silent_p.L471L|DNAH6_ENST00000398278.2_Silent_p.L471L			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	471	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						CTGACAAGCTAAAACGAACAC	0.358																																																0													94	83	87					2																	84777109		2203	4300	6503	SO:0001819	synonymous_variant	1768			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"Axonemal dyneins"	2951	protein-coding gene	gene with protein product		603336	"dynein, axonemal, heavy polypeptide 6", "dynein heavy chain-like 1"	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.1413A>T	chr2.hg19:g.84777109A>T			A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Silent	SNP	ENST00000237449.6	hg19	CCDS46348.1																																																																																				0.358	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370		T	84777109	A	T	84777109	2	4	686	1	0	0	0	0	0	0	0	1	4607	349	13	5		5	DNAH6	2	84777109	Silent	SNP	A	TCGA-IZ-8196-01A-11D-2396-08	40823638	84777109	158422264	18	37907											
POTEF	728378	hgsc.bcm.edu	37	2	130872496	130872496	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr2:130872496delT	ENST00000409914.2	-	5	1167	c.768delA	c.(766-768)aaafs	p.K256fs	POTEF_ENST00000360967.5_Frame_Shift_Del_p.K256fs|POTEF_ENST00000357462.5_Frame_Shift_Del_p.K256fs|POTEF_ENST00000361163.4_Frame_Shift_Del_p.K266fs	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	256					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						AGAGCAGTGCTTTGGCCATTA	0.338																																																0													3	3	3					2																	130872496		1247	2882	4129	SO:0001589	frameshift_variant	728378			EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33905	protein-coding gene	gene with protein product			"ANKRD26-like family C, member 1B"	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.768delA	chr2.hg19:g.130872496delT	ENSP00000386786:p.Lys256fs		A6NC34	Frame_Shift_Del	DEL	ENST00000409914.2	hg19	CCDS46409.1																																																																																				0.338	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		-	130872496	T	-	130872496	7	5	686	1	0	1	0	1	0	0	0	0	12267	1606	56	0	2511	0	POTEF	2	130872496	Frame_Shift_Del	DEL	T	TCGA-IZ-8196-01A-11D-2396-08	46095387	130872496	112326877	19	37908											
POTEE	445582	hgsc.bcm.edu	37	2	131981572	131981572	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr2:131981572delA	ENST00000356920.5	+	3	860	c.766delA	c.(766-768)aaafs	p.K256fs	PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Frame_Shift_Del_p.K266fs	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	256					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											ATTAATGGCCAAAGCACTGCT	0.338																																																0													1	1	1					2																	131981572		992	2313	3305	SO:0001589	frameshift_variant	445582			AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33895	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 2"	608914	"ANKRD26-like family C, member 1A"	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.766delA	chr2.hg19:g.131981572delA	ENSP00000439189:p.Lys256fs		Q6S8J4|Q6S8J5|Q6S8J8	Frame_Shift_Del	DEL	ENST00000356920.5	hg19	CCDS46414.1																																																																																				0.338	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		-	131981572	A	-	131981572	7	5	686	1	0	1	0	1	0	0	0	0	12266	131	5	0	776	0	POTEE	2	131981572	Frame_Shift_Del	DEL	A	TCGA-IZ-8196-01A-11D-2396-08	1109076	131981572	111217801	20	37909											
MCM6	4175	hgsc.bcm.edu	37	2	136620201	136620202	+	Missense_Mutation	DNP	CT	CT	AG			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	C|T	C|T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr2:136620201_136620202CT>AG	ENST00000264156.2	-	8	1255_1256	c.1195_1196AG>CT	c.(1195-1197)AGt>CTt	p.S399L	MCM6_ENST00000492091.1_5'UTR	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	399	MCM.				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)		CTTAGCTGTACTTGGGTCACCA	0.485																																					Ovarian(196;141 2104 8848 24991 25939)											0																																										SO:0001583	missense	4175				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.1195_1196delinsAG	chr2.hg19:g.136620201_136620202delinsAG	ENSP00000264156:p.Ser399Leu		B2R6H2|Q13504|Q99859	Missense_Mutation	SNP	ENST00000264156.2	hg19	CCDS2179.1																																																																																				0.485	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	NM_005915		AG	136620202	CT	AG	136620201	3	1	686	1	0	0	0	0	1	0	0	0	9393	565	20	4	1309	4	MCM6	2	136620201	Missense_Mutation	DNP	CT	TCGA-IZ-8196-01A-11D-2396-08	4638629	136620201	106579172	21	37910											
ATG9A	79065	hgsc.bcm.edu	37	2	220090289	220090289	+	Missense_Mutation	SNP	A	A	C			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr2:220090289A>C	ENST00000409618.1	-	6	657	c.218T>G	c.(217-219)tTc>tGc	p.F73C	AC068946.1_ENST00000408417.1_RNA|ATG9A_ENST00000488833.1_5'Flank|ATG9A_ENST00000361242.4_Missense_Mutation_p.F73C|ATG9A_ENST00000409422.1_Missense_Mutation_p.F12C|ATG9A_ENST00000396761.2_Missense_Mutation_p.F73C			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	73					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)		CACAAAGAGGAACTGCCTGGG	0.532																																																0													71	74	73					2																	220090289		2019	4190	6209	SO:0001583	missense	79065			AK021732	CCDS42820.1	2q35	2014-02-12	2012-06-06	2005-09-11	ENSG00000198925	ENSG00000198925			22408	protein-coding gene	gene with protein product		612204	"APG9 autophagy 9-like 1 (S. cerevisiae)", "ATG9 autophagy related 9 homolog A (S. cerevisiae)"	APG9L1			Standard	NM_024085		Approved	FLJ22169	uc002vkf.1	Q7Z3C6	OTTHUMG00000154557	ENST00000409618.1:c.218T>G	chr2.hg19:g.220090289A>C	ENSP00000386710:p.Phe73Cys		Q3ZAQ6|Q6P0N7|Q7Z317|Q7Z320|Q8NDK6|Q8WU65|Q9BVL5|Q9H6L1|Q9HAG7	Missense_Mutation	SNP	ENST00000409618.1	hg19	CCDS42820.1	.	.	.	.	.	.	.	.	.	.	A	17.32	3.360020	0.61403	.	.	ENSG00000198925	ENST00000396761;ENST00000409618;ENST00000361242;ENST00000409422;ENST00000436856;ENST00000457841;ENST00000428226;ENST00000432520;ENST00000439812;ENST00000443140;ENST00000434939	T;T;T;T;T;T;T;T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7	5.05	5.05	0.67936	.	0.057192	0.64402	D	0.000001	T	0.73513	0.3596	M	0.78916	2.43	0.58432	D	0.999995	D	0.58620	0.983	B	0.43783	0.431	T	0.79808	-0.1647	10	0.72032	D	0.01	.	15.2471	0.73513	1.0:0.0:0.0:0.0	.	73	Q7Z3C6	ATG9A_HUMAN	C	73;73;73;12;73;73;73;73;73;73;73	ENSP00000379983:F73C;ENSP00000386710:F73C;ENSP00000355173:F73C;ENSP00000386535:F12C;ENSP00000401530:F73C;ENSP00000404750:F73C;ENSP00000409164:F73C;ENSP00000406785:F73C;ENSP00000413569:F73C;ENSP00000416435:F73C;ENSP00000394345:F73C	ENSP00000355173:F73C	F	-	2	0	ATG9A	219798533	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.040000	0.93783	2.251000	0.74343	0.482000	0.46254	TTC		0.532	ATG9A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335930.1	NM_024085		C	220090289	A	C	220090289	3	2	686	1	0	0	0	0	1	0	0	0	1102	246	9	5	2345	5	ATG9A	2	220090289	Missense_Mutation	SNP	A	TCGA-IZ-8196-01A-11D-2396-08	83470088	220090289	23109084	22	37911											
SPHKAP	80309	hgsc.bcm.edu	37	2	228860230	228860230	+	Silent	SNP	G	G	C			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr2:228860230G>C	ENST00000392056.3	-	8	4675	c.4629C>G	c.(4627-4629)tcC>tcG	p.S1543S	SPHKAP_ENST00000344657.5_Silent_p.S1543S	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1543						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)		GGTACCTCATGGATCGCTCAC	0.483																																																0													226	197	207					2																	228860230		2203	4300	6503	SO:0001819	synonymous_variant	80309				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.4629C>G	chr2.hg19:g.228860230G>C			Q68DA3|Q68DR8|Q9C0I5	Silent	SNP	ENST00000392056.3	hg19	CCDS46537.1																																																																																				0.483	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		C	228860230	G	C	228860230	2	2	686	1	0	0	0	0	0	0	0	1	15053	1335	47	4		4	SPHKAP	2	228860230	Silent	SNP	G	TCGA-IZ-8196-01A-11D-2396-08	8769941	228860230	14339143	23	37912											
CAMK1	8536	hgsc.bcm.edu	37	3	9802445	9802445	+	Missense_Mutation	SNP	C	C	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr3:9802445C>T	ENST00000256460.3	-	8	817	c.640G>A	c.(640-642)Ggt>Agt	p.G214S	OGG1_ENST00000349503.5_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000449570.2_Intron|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000302036.7_Intron	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I	214	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|nucleocytoplasmic transport (GO:0006913)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of synapse structural plasticity (GO:0051835)|protein phosphorylation (GO:0006468)|regulation of muscle cell differentiation (GO:0051147)|regulation of protein binding (GO:0043393)|regulation of protein localization (GO:0032880)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)	p.G214S(1)		endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		GGAGGGTAACCGCAGAGCCTG	0.552																																																1	Substitution - Missense(1)	endometrium(1)											82	77	78					3																	9802445		2203	4300	6503	SO:0001583	missense	8536			L41816	CCDS2582.1	3p25.3	2004-02-27			ENSG00000134072	ENSG00000134072			1459	protein-coding gene	gene with protein product		604998				7641687	Standard	NM_003656		Approved	CaMKI	uc003bst.3	Q14012	OTTHUMG00000128419	ENST00000256460.3:c.640G>A	chr3.hg19:g.9802445C>T	ENSP00000256460:p.Gly214Ser		Q3KPF6	Missense_Mutation	SNP	ENST00000256460.3	hg19	CCDS2582.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.258485|5.258485	0.95368|0.95368	.|.	.|.	ENSG00000134072|ENSG00000134072	ENST00000256460|ENST00000421120	T|.	0.58210|.	0.35|.	5.13|5.13	5.13|5.13	0.70059|0.70059	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.82962|0.82962	0.5151|0.5151	M|M	0.87269|0.87269	2.87|2.87	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.80764|.	0.994|.	D|D	0.85554|0.85554	0.1223|0.1223	10|5	0.87932|.	D|.	0|.	-14.0937|-14.0937	17.3689|17.3689	0.87371|0.87371	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	214|.	Q14012|.	KCC1A_HUMAN|.	S|Q	214|60	ENSP00000256460:G214S|.	ENSP00000256460:G214S|.	G|R	-|-	1|2	0|0	CAMK1|CAMK1	9777445|9777445	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.793000|0.793000	0.44817|0.44817	7.648000|7.648000	0.83479|0.83479	2.384000|2.384000	0.81235|0.81235	0.655000|0.655000	0.94253|0.94253	GGT|CGG		0.552	CAMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250206.1	NM_003656		T	9802445	C	T	9802445	3	4	686	1	0	0	0	0	1	0	0	0	2598	652	23	1	492	1	CAMK1	3	9802445	Missense_Mutation	SNP	C	TCGA-IZ-8196-01A-11D-2396-08		9802445	188219985	24	37913											
C3orf71	646450	hgsc.bcm.edu	37	3	48956091	48956091	+	Silent	SNP	T	T	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr3:48956091T>A	ENST00000408959.2	-	1	727	c.492A>T	c.(490-492)ccA>ccT	p.P164P	ARIH2_ENST00000356401.4_5'Flank|ARIH2_ENST00000449376.1_5'Flank	NM_001123040.1	NP_001116512.1	Q8N7S6	ARI2O_HUMAN	ariadne homolog 2 opposite strand	164						integral component of membrane (GO:0016021)											CGGGAGACGCTGGTAGGCGAA	0.587																																																0													47	49	49					3																	48956091		1568	3582	5150	SO:0001819	synonymous_variant	646450			DA461567	CCDS43088.1	3p21.31	2012-10-08	2012-10-08	2012-10-08	ENSG00000221883	ENSG00000221883			34425	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 71"	C3orf71			Standard	NM_001123040		Approved		uc010hkk.1	Q8N7S6	OTTHUMG00000156672	ENST00000408959.2:c.492A>T	chr3.hg19:g.48956091T>A				Silent	SNP	ENST00000408959.2	hg19	CCDS43088.1																																																																																				0.587	ARIH2OS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345247.1	NM_001123040		A	48956091	T	A	48956091	2	1	686	1	0	0	0	0	0	0	0	1	2245	1567	55	5		5	C3orf71	3	48956091	Silent	SNP	T	TCGA-IZ-8196-01A-11D-2396-08	39153646	48956091	149066339	25	37914											
ARHGEF3	50650	hgsc.bcm.edu	37	3	56789065	56789065	+	Missense_Mutation	SNP	T	T	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr3:56789065T>A	ENST00000296315.3	-	3	487	c.319A>T	c.(319-321)Acc>Tcc	p.T107S	ARHGEF3_ENST00000496106.1_Missense_Mutation_p.T113S|ARHGEF3_ENST00000498517.1_5'UTR|ARHGEF3_ENST00000495373.1_Missense_Mutation_p.T107S|ARHGEF3_ENST00000413728.2_Missense_Mutation_p.T113S|ARHGEF3_ENST00000497267.1_Missense_Mutation_p.T78S|ARHGEF3_ENST00000338458.4_Missense_Mutation_p.T139S	NM_019555.2	NP_062455.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	107					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)		ACATCGAAGGTCTCACTCCAC	0.587																																																0													165	147	153					3																	56789065		2203	4300	6503	SO:0001583	missense	50650			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.319A>T	chr3.hg19:g.56789065T>A	ENSP00000296315:p.Thr107Ser		A8K5U7|Q4FZB6|Q4QQI5|Q4QQQ0|Q59F00|Q6NUN3|Q7Z4U2|Q7Z5T2|Q9H7T4	Missense_Mutation	SNP	ENST00000296315.3	hg19	CCDS2878.1	.	.	.	.	.	.	.	.	.	.	T	35	5.460720	0.96240	.	.	ENSG00000163947	ENST00000296315;ENST00000338458;ENST00000413728;ENST00000496106;ENST00000497267;ENST00000495373;ENST00000468727;ENST00000473779	T;T;T;T;T;T;T;T	0.67345	1.6;1.6;1.6;1.6;1.6;1.6;-0.26;-0.26	5.32	5.32	0.75619	Dbl homology (DH) domain (1);	0.000000	0.85682	D	0.000000	T	0.79476	0.4452	M	0.74881	2.28	0.54753	D	0.999988	D;P;P;D;D;D	0.58268	0.969;0.938;0.882;0.982;0.982;0.982	P;P;P;P;P;P	0.60682	0.798;0.628;0.55;0.878;0.855;0.878	T	0.81760	-0.0785	10	0.59425	D	0.04	-11.4376	15.6104	0.76713	0.0:0.0:0.0:1.0	.	113;78;107;139;107;113	E9PG37;E7EU49;C9J586;Q9NR81-2;Q9NR81;Q9NR81-3	.;.;.;.;ARHG3_HUMAN;.	S	107;139;113;113;78;107;108;125	ENSP00000296315:T107S;ENSP00000341071:T139S;ENSP00000410922:T113S;ENSP00000420420:T113S;ENSP00000418826:T78S;ENSP00000417986:T107S;ENSP00000417087:T108S;ENSP00000420402:T125S	ENSP00000296315:T107S	T	-	1	0	ARHGEF3	56764105	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.991000	0.88244	2.156000	0.67533	0.533000	0.62120	ACC		0.587	ARHGEF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352431.2	NM_019555		A	56789065	T	A	56789065	3	1	686	1	0	0	0	0	1	0	0	0	904	1667	58	5	1293	5	ARHGEF3	3	56789065	Missense_Mutation	SNP	T	TCGA-IZ-8196-01A-11D-2396-08	7832974	56789065	141233365	26	37915											
RNF13	11342	hgsc.bcm.edu	37	3	149678575	149678575	+	Missense_Mutation	SNP	C	C	G			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr3:149678575C>G	ENST00000344229.3	+	11	1532	c.830C>G	c.(829-831)aCc>aGc	p.T277S	RNF13_ENST00000361785.6_Missense_Mutation_p.T158S|RNF13_ENST00000392894.3_Missense_Mutation_p.T277S	NM_007282.4	NP_009213.1	O43567	RNF13_HUMAN	ring finger protein 13	277					protein autoubiquitination (GO:0051865)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	11		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			ACCAAAAAAACCTGTCCAGTG	0.398																																																0													67	66	66					3																	149678575		2203	4300	6503	SO:0001583	missense	11342			AF037204	CCDS3146.1	3q25.1	2013-01-09			ENSG00000082996	ENSG00000082996		"RING-type (C3HC4) zinc fingers"	10057	protein-coding gene	gene with protein product		609247					Standard	NM_183381		Approved	RZF	uc003exp.4	O43567	OTTHUMG00000150338	ENST00000344229.3:c.830C>G	chr3.hg19:g.149678575C>G	ENSP00000341361:p.Thr277Ser		A6NC87|B3KR12|Q05D66|Q6IBJ9	Missense_Mutation	SNP	ENST00000344229.3	hg19	CCDS3146.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.38|17.38	3.374025|3.374025	0.61735|0.61735	.|.	.|.	ENSG00000082996|ENSG00000082996	ENST00000468289|ENST00000392894;ENST00000344229;ENST00000491086;ENST00000543506;ENST00000361785;ENST00000482083	.|T;T;T;T;T	.|0.41065	.|1.01;1.01;1.01;1.01;1.01	6.06|6.06	6.06|6.06	0.98353|0.98353	.|Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.46852|0.46852	0.1414|0.1414	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	.|B;P	.|0.38565	.|0.213;0.637	.|B;P	.|0.46452	.|0.193;0.517	T|T	0.19745|0.19745	-1.0296|-1.0296	5|10	.|0.41790	.|T	.|0.15	-20.7775|-20.7775	20.6397|20.6397	0.99537|0.99537	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|158;277	.|B3KR12;O43567	.|.;RNF13_HUMAN	K|S	78|277;277;158;277;158;158	.|ENSP00000376628:T277S;ENSP00000341361:T277S;ENSP00000420667:T158S;ENSP00000355268:T158S;ENSP00000418863:T158S	.|ENSP00000341361:T277S	N|T	+|+	3|2	2|0	RNF13|RNF13	151161265|151161265	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.487000|7.487000	0.81328|0.81328	2.880000|2.880000	0.98712|0.98712	0.650000|0.650000	0.86243|0.86243	AAC|ACC		0.398	RNF13-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356876.1	NM_183384		G	149678575	C	G	149678575	3	3	686	1	0	0	0	0	1	0	0	0	13443	507	18	4	864	4	RNF13	3	149678575	Missense_Mutation	SNP	C	TCGA-IZ-8196-01A-11D-2396-08	92889510	149678575	48343855	27	37916											
GABRA2	2555	hgsc.bcm.edu	37	4	46312218	46312218	+	Silent	SNP	A	A	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr4:46312218A>T	ENST00000510861.1	-	6	704	c.531T>A	c.(529-531)gcT>gcA	p.A177A	GABRA2_ENST00000540012.1_Silent_p.A122A|GABRA2_ENST00000514090.1_Silent_p.A177A|GABRA2_ENST00000356504.1_Silent_p.A177A|GABRA2_ENST00000507069.1_Silent_p.A177A|GABRA2_ENST00000381620.4_Silent_p.A177A|GABRA2_ENST00000515082.1_Silent_p.A177A			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	177					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)	GACATGAATGAGCATCCATTG	0.388																																																0													135	130	132					4																	46312218		2203	4300	6503	SO:0001819	synonymous_variant	2555				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.531T>A	chr4.hg19:g.46312218A>T			A8K0U7|B7Z1H8|Q59G14	Silent	SNP	ENST00000510861.1	hg19	CCDS3471.1																																																																																				0.388	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2			T	46312218	A	T	46312218	2	4	686	1	0	0	0	0	0	0	0	1	6163	291	11	5		5	GABRA2	4	46312218	Silent	SNP	A	TCGA-IZ-8196-01A-11D-2396-08		46312218	144842058	28	37917											
GALNTL6	442117	hgsc.bcm.edu	37	4	173269759	173269759	+	Missense_Mutation	SNP	C	C	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr4:173269759C>T	ENST00000506823.1	+	5	1129	c.472C>T	c.(472-474)Cgg>Tgg	p.R158W	GALNTL6_ENST00000457021.1_3'UTR|GALNTL6_ENST00000508122.1_Missense_Mutation_p.R141W	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	158	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)			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						TTCACTCCTGCGGACCATACA	0.428																																																0													141	132	135					4																	173269759		2203	4300	6503	SO:0001583	missense	442117				CCDS34104.1	4q34.1	2014-03-13	2014-03-13		ENSG00000174473	ENSG00000174473		"Glycosyltransferase family 2 domain containing"	33844	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase-like 6"	615138	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6"				Standard	NM_001034845		Approved	GALNT17, GalNAc-T6L	uc003isv.3	Q49A17	OTTHUMG00000160807	ENST00000506823.1:c.472C>T	chr4.hg19:g.173269759C>T	ENSP00000423313:p.Arg158Trp		Q2L4S6	Missense_Mutation	SNP	ENST00000506823.1	hg19	CCDS34104.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.376971	0.61735	.	.	ENSG00000174473	ENST00000506823;ENST00000404275;ENST00000508122	T;T	0.63913	-0.07;-0.07	5.38	1.32	0.21799	Glycosyl transferase, family 2 (1);	0.730958	0.11188	N	0.590274	D	0.88228	0.6380	H	0.99425	4.56	0.48341	D	0.999638	D	0.89917	1.0	D	0.97110	1.0	D	0.89622	0.3849	10	0.87932	D	0	.	14.8011	0.69916	0.6209:0.3791:0.0:0.0	.	158	Q49A17	GLTL6_HUMAN	W	158;158;141	ENSP00000423313:R158W;ENSP00000423827:R141W	ENSP00000385382:R158W	R	+	1	2	GALNTL6	173506334	0.987000	0.35691	1.000000	0.80357	0.979000	0.70002	0.342000	0.19926	0.212000	0.20703	-0.470000	0.05040	CGG		0.428	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362395.1	NM_001034845		T	173269759	C	T	173269759	3	4	686	1	0	0	0	0	1	0	0	0	6227	759	27	1	486	1	GALNTL6	4	173269759	Missense_Mutation	SNP	C	TCGA-IZ-8196-01A-11D-2396-08	126957541	173269759	17884517	29	37918											
SLC9A3	6550	hgsc.bcm.edu	37	5	476140	476140	+	Missense_Mutation	SNP	T	T	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr5:476140T>A	ENST00000264938.3	-	14	2144	c.2135A>T	c.(2134-2136)gAg>gTg	p.E712V	CTD-2228K2.7_ENST00000607286.1_RNA|CTD-2228K2.7_ENST00000607005.1_RNA|CTD-2228K2.7_ENST00000606288.1_RNA|CTD-2228K2.7_ENST00000606319.1_RNA|CTD-2228K2.5_ENST00000342584.3_5'Flank|SLC9A3_ENST00000514375.1_Missense_Mutation_p.E703V	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	712					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)			CGCACCTTTCTCCTTGATGGT	0.642																																																0													24	26	25					5																	476140		2203	4300	6503	SO:0001583	missense	6550				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.2135A>T	chr5.hg19:g.476140T>A	ENSP00000264938:p.Glu712Val		B7ZKR2|E9PF67|Q3MIW3	Missense_Mutation	SNP	ENST00000264938.3	hg19	CCDS3855.1	.	.	.	.	.	.	.	.	.	.	T	9.100	1.003901	0.19199	.	.	ENSG00000066230	ENST00000264938;ENST00000514375	T;T	0.72942	-0.7;-0.7	3.93	3.93	0.45458	.	11.221700	0.00508	N	0.000168	T	0.70360	0.3215	M	0.64997	1.995	0.30953	N	0.724513	B;P	0.35433	0.222;0.501	B;B	0.35470	0.059;0.203	T	0.57470	-0.7806	10	0.25106	T	0.35	.	9.4489	0.38714	0.0:0.0:0.0:1.0	.	703;712	E9PF67;P48764	.;SL9A3_HUMAN	V	712;703	ENSP00000264938:E712V;ENSP00000422983:E703V	ENSP00000264938:E712V	E	-	2	0	SLC9A3	529140	0.009000	0.17119	0.998000	0.56505	0.230000	0.25150	0.875000	0.28079	1.565000	0.49641	0.155000	0.16302	GAG		0.642	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206677.2	NM_004174		A	476140	T	A	476140	3	1	686	1	0	0	0	0	1	0	0	0	14719	1551	54	5	385	5	SLC9A3	5	476140	Missense_Mutation	SNP	T	TCGA-IZ-8196-01A-11D-2396-08		476140	180439120	30	37919											
ADAMTS16	170690	hgsc.bcm.edu	37	5	5235155	5235155	+	Missense_Mutation	SNP	G	G	C			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr5:5235155G>C	ENST00000274181.7	+	13	2017	c.1879G>C	c.(1879-1881)Ggc>Cgc	p.G627R	ADAMTS16_ENST00000513709.1_3'UTR	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	627	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GTTCTGTGAGGGCTCCACTCG	0.443																																																0													66	69	68					5																	5235155		1926	4118	6044	SO:0001583	missense	170690			AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"ADAM metallopeptidases with thrombospondin type 1 motif"	17108	protein-coding gene	gene with protein product		607510	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.1879G>C	chr5.hg19:g.5235155G>C	ENSP00000274181:p.Gly627Arg		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	hg19	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.337693	0.60963	.	.	ENSG00000145536	ENST00000274181;ENST00000536857	T	0.09163	3.01	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.54886	0.1886	H	0.99565	4.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.76984	-0.2756	10	0.72032	D	0.01	.	17.2614	0.87071	0.0:0.0:1.0:0.0	.	627;627	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	R	627	ENSP00000274181:G627R	ENSP00000274181:G627R	G	+	1	0	ADAMTS16	5288155	1.000000	0.71417	0.963000	0.40424	0.056000	0.15407	9.323000	0.96364	2.446000	0.82766	0.655000	0.94253	GGC		0.443	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		C	5235155	G	C	5235155	3	2	686	1	0	0	0	0	1	0	0	0	261	1232	43	4	1929	4	ADAMTS16	5	5235155	Missense_Mutation	SNP	G	TCGA-IZ-8196-01A-11D-2396-08	4759015	5235155	175680105	31	37920											
IL7R	3575	hgsc.bcm.edu	37	5	35876145	35876145	+	Missense_Mutation	SNP	G	G	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr5:35876145G>T	ENST00000303115.3	+	8	1066	c.937G>T	c.(937-939)Gac>Tac	p.D313Y	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	313					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)			TAGGGTGGATGACATTCAAGC	0.438			"Mis, O"		"ALL, ETP ALL"		Severe combined immune deficiency																																Dom	yes		5	5p13	146661	interleukin 7 receptor	yes	L	0													89	84	85					5																	35876145		2203	4300	6503	SO:0001583	missense	3575			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.937G>T	chr5.hg19:g.35876145G>T	ENSP00000306157:p.Asp313Tyr		B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1	Missense_Mutation	SNP	ENST00000303115.3	hg19	CCDS3911.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.199424	0.79015	.	.	ENSG00000168685	ENST00000303115;ENST00000505875	T;T	0.35421	1.9;1.31	6.06	6.06	0.98353	.	0.458345	0.25467	N	0.030468	T	0.30854	0.0778	N	0.14661	0.345	0.80722	D	1	D	0.56521	0.976	P	0.46975	0.533	T	0.09885	-1.0654	10	0.72032	D	0.01	-1.5157	16.1283	0.81408	0.0:0.0:1.0:0.0	.	313	P16871	IL7RA_HUMAN	Y	313;79	ENSP00000306157:D313Y;ENSP00000420923:D79Y	ENSP00000306157:D313Y	D	+	1	0	IL7R	35911902	1.000000	0.71417	0.998000	0.56505	0.961000	0.63080	3.729000	0.54999	2.871000	0.98454	0.655000	0.94253	GAC		0.438	IL7R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207577.2			T	35876145	G	T	35876145	3	4	686	1	0	0	0	0	1	0	0	0	7707	1290	45	4	967	4	IL7R	5	35876145	Missense_Mutation	SNP	G	TCGA-IZ-8196-01A-11D-2396-08	30640990	35876145	145039115	32	37921											
PPIC	5480	hgsc.bcm.edu	37	5	122359696	122359696	+	Silent	SNP	T	T	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr5:122359696T>A	ENST00000306442.4	-	5	628	c.513A>T	c.(511-513)acA>acT	p.T171T	RN7SL689P_ENST00000577215.1_RNA	NM_000943.4	NP_000934.1	P45877	PPIC_HUMAN	peptidylprolyl isomerase C (cyclophilin C)	171	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)	AGTGCACCACTGTCTGGTGAG	0.478																																					Ovarian(99;690 1502 20765 45543 49568)											0													203	187	192					5																	122359696		2203	4300	6503	SO:0001819	synonymous_variant	5480			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.513A>T	chr5.hg19:g.122359696T>A			A4LBB5	Silent	SNP	ENST00000306442.4	hg19	CCDS4133.1																																																																																				0.478	PPIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250898.2	NM_000943		A	122359696	T	A	122359696	2	1	686	1	0	0	0	0	0	0	0	1	12325	1567	55	5		5	PPIC	5	122359696	Silent	SNP	T	TCGA-IZ-8196-01A-11D-2396-08	86483551	122359696	58555564	33	37922											
PCDHA8	56140	hgsc.bcm.edu	37	5	140223201	140223201	+	Silent	SNP	G	G	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr5:140223201G>A	ENST00000531613.1	+	1	2295	c.2295G>A	c.(2293-2295)ccG>ccA	p.P765P	PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000378123.3_Silent_p.P765P|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	765					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)			AGGGGCCACCGAAGACGGACC	0.592																																																0													59	60	60					5																	140223201		2196	4262	6458	SO:0001819	synonymous_variant	56140			AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"Cadherins / Protocadherins : Clustered"	8674	other	complex locus constituent	"KIAA0345-like 6"	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.2295G>A	chr5.hg19:g.140223201G>A			B9EGT7|O75281	Silent	SNP	ENST00000531613.1	hg19	CCDS54919.1																																																																																				0.592	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		A	140223201	G	A	140223201	2	1	686	1	0	0	0	0	0	0	0	1	11532	1045	37	1		1	PCDHA8	5	140223201	Silent	SNP	G	TCGA-IZ-8196-01A-11D-2396-08	17863505	140223201	40692059	34	37923											
PCDHGA12	26025	hgsc.bcm.edu	37	5	140811805	140811805	+	Silent	SNP	G	G	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr5:140811805G>A	ENST00000252085.3	+	1	1621	c.1479G>A	c.(1477-1479)gaG>gaA	p.E493E	PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	493	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|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)			CCCTGGCTGAGAACACCATCC	0.557																																																0													75	81	79					5																	140811805		2203	4300	6503	SO:0001819	synonymous_variant	26025			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.1479G>A	chr5.hg19:g.140811805G>A			O15100|Q6UW70|Q9Y5D7	Silent	SNP	ENST00000252085.3	hg19	CCDS4260.1																																																																																				0.557	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735		A	140811805	G	A	140811805	2	1	686	1	0	0	0	0	0	0	0	1	11555	933	33	2		2	PCDHGA12	5	140811805	Silent	SNP	G	TCGA-IZ-8196-01A-11D-2396-08	588604	140811805	40103455	35	37924											
LARP1	23367	hgsc.bcm.edu	37	5	154183178	154183178	+	Missense_Mutation	SNP	T	T	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr5:154183178T>A	ENST00000336314.4	+	13	2105	c.2081T>A	c.(2080-2082)gTc>gAc	p.V694D		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	771					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)			CCAACCACTGTCCCAGAGTCA	0.582																																																0													153	132	139					5																	154183178		2203	4300	6503	SO:0001583	missense	23367			AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"La ribonucleoprotein domain containing"	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.2081T>A	chr5.hg19:g.154183178T>A	ENSP00000336721:p.Val694Asp		O94836|Q8N4M2|Q8NB73|Q9UFD7	Missense_Mutation	SNP	ENST00000336314.4	hg19	CCDS4328.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.11|18.11	3.551818|3.551818	0.65311|0.65311	.|.	.|.	ENSG00000155506|ENSG00000155506	ENST00000518677|ENST00000336314;ENST00000518297;ENST00000524248	.|T;T;T	.|0.38240	.|1.67;1.15;1.22	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.59459|0.59459	0.2195|0.2195	M|M	0.72118|0.72118	2.19|2.19	0.80722|0.80722	D|D	1|1	.|D;D	.|0.71674	.|0.997;0.998	.|D;D	.|0.74348	.|0.92;0.983	T|T	0.60551|0.60551	-0.7241|-0.7241	5|10	.|0.48119	.|T	.|0.1	-16.9963|-16.9963	15.9212|15.9212	0.79575|0.79575	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|771;694	.|Q6PKG0;Q6PKG0-3	.|LARP1_HUMAN;.	T|D	85|694;771;566	.|ENSP00000336721:V694D;ENSP00000428589:V771D;ENSP00000429904:V566D	.|ENSP00000336721:V694D	S|V	+|+	1|2	0|0	LARP1|LARP1	154163371|154163371	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.186000|0.186000	0.23388|0.23388	7.633000|7.633000	0.83260|0.83260	2.155000|2.155000	0.67459|0.67459	0.460000|0.460000	0.39030|0.39030	TCC|GTC		0.582	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551		A	154183178	T	A	154183178	3	1	686	1	0	0	0	0	1	0	0	0	8630	1667	58	5	2131	5	LARP1	5	154183178	Missense_Mutation	SNP	T	TCGA-IZ-8196-01A-11D-2396-08	13371373	154183178	26732082	36	37925											
PANK3	79646	hgsc.bcm.edu	37	5	167995656	167995656	+	Missense_Mutation	SNP	G	G	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr5:167995656G>A	ENST00000239231.6	-	2	692	c.376C>T	c.(376-378)Cgc>Tgc	p.R126C	PANK3_ENST00000520504.1_5'Flank	NM_024594.3	NP_078870.1	Q9H999	PANK3_HUMAN	pantothenate kinase 3	126					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)	p.R126C(1)		NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)		CCTACTGTGCGAAAATCTTTT	0.373																																																1	Substitution - Missense(1)	cervix(1)											80	77	78					5																	167995656		2203	4300	6503	SO:0001583	missense	79646			AK022961	CCDS4368.1	5q35.1	2008-02-05			ENSG00000120137	ENSG00000120137			19365	protein-coding gene	gene with protein product		606161				11479594	Standard	NM_024594		Approved	FLJ12899	uc003lzz.2	Q9H999	OTTHUMG00000130410	ENST00000239231.6:c.376C>T	chr5.hg19:g.167995656G>A	ENSP00000239231:p.Arg126Cys		D3DQL1|Q53FJ9|Q7RTX4	Missense_Mutation	SNP	ENST00000239231.6	hg19	CCDS4368.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.021887	0.75275	.	.	ENSG00000120137	ENST00000239231;ENST00000522176	D;D	0.99582	-6.22;-6.22	5.81	5.81	0.92471	.	0.045054	0.85682	D	0.000000	D	0.99387	0.9784	M	0.72118	2.19	0.80722	D	1	D	0.61697	0.99	P	0.54856	0.762	D	0.99429	1.0935	10	0.54805	T	0.06	-7.4746	19.0666	0.93114	0.0:0.0:1.0:0.0	.	126	Q9H999	PANK3_HUMAN	C	126;111	ENSP00000239231:R126C;ENSP00000428631:R111C	ENSP00000239231:R126C	R	-	1	0	PANK3	167928234	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	5.446000	0.66600	2.736000	0.93811	0.655000	0.94253	CGC		0.373	PANK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252793.2	NM_024594		A	167995656	G	A	167995656	3	1	686	1	0	0	0	0	1	0	0	0	11420	1058	37	1	760	1	PANK3	5	167995656	Missense_Mutation	SNP	G	TCGA-IZ-8196-01A-11D-2396-08	13812478	167995656	12919604	37	37926											
DHX16	8449	hgsc.bcm.edu	37	6	30640454	30640454	+	Silent	SNP	G	G	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr6:30640454G>T	ENST00000376442.3	-	1	360	c.165C>A	c.(163-165)ctC>ctA	p.L55L		NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	55					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			kidney(2)|ovary(2)	4						CCGGCCCACTGAGATCCAAGG	0.652																																																0													51	54	53					6																	30640454		1508	2709	4217	SO:0001819	synonymous_variant	8449			AB001601	CCDS4685.1	6p21.3	2010-02-17	2003-06-13	2003-06-20	ENSG00000204560	ENSG00000204560		"DEAH-boxes"	2739	protein-coding gene	gene with protein product		603405	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16"	DDX16		9547260	Standard	NM_003587		Approved	DBP2, Prp2, PRPF2	uc003nqz.3	O60231	OTTHUMG00000031060	ENST00000376442.3:c.165C>A	chr6.hg19:g.30640454G>T			O60322|Q5JP45|Q969X7|Q96QC1	Silent	SNP	ENST00000376442.3	hg19	CCDS4685.1																																																																																				0.652	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076076.2	NM_003587		T	30640454	G	T	30640454	2	4	686	1	0	0	0	0	0	0	0	1	4504	1277	45	4		4	DHX16	6	30640454	Silent	SNP	G	TCGA-IZ-8196-01A-11D-2396-08		30640454	140474613	38	37927	290	2									
DHX16	8449	hgsc.bcm.edu	37	6	30640464	30640464	+	Missense_Mutation	SNP	G	G	T	rs375439029		TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr6:30640464G>T	ENST00000376442.3	-	1	350	c.155C>A	c.(154-156)aCc>aAc	p.T52N		NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	52					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			kidney(2)|ovary(2)	4						GAGATCCAAGGTATCAGTGTC	0.647																																																0													52	55	54					6																	30640464		1509	2709	4218	SO:0001583	missense	8449			AB001601	CCDS4685.1	6p21.3	2010-02-17	2003-06-13	2003-06-20	ENSG00000204560	ENSG00000204560		"DEAH-boxes"	2739	protein-coding gene	gene with protein product		603405	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16"	DDX16		9547260	Standard	NM_003587		Approved	DBP2, Prp2, PRPF2	uc003nqz.3	O60231	OTTHUMG00000031060	ENST00000376442.3:c.155C>A	chr6.hg19:g.30640464G>T	ENSP00000365625:p.Thr52Asn		O60322|Q5JP45|Q969X7|Q96QC1	Missense_Mutation	SNP	ENST00000376442.3	hg19	CCDS4685.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.604490	0.46423	.	.	ENSG00000204560	ENST00000376442	T	0.02709	4.19	4.61	4.61	0.57282	.	0.054721	0.64402	D	0.000001	T	0.01661	0.0053	L	0.52364	1.645	0.80722	D	1	P	0.41673	0.759	B	0.37267	0.245	T	0.63844	-0.6545	10	0.17832	T	0.49	.	16.3585	0.83245	0.0:0.0:1.0:0.0	.	52	O60231	DHX16_HUMAN	N	52	ENSP00000365625:T52N	ENSP00000365625:T52N	T	-	2	0	DHX16	30748443	1.000000	0.71417	0.876000	0.34364	0.601000	0.36947	7.517000	0.81783	2.395000	0.81488	0.400000	0.26472	ACC		0.647	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076076.2	NM_003587		T	30640464	G	T	30640464	3	4	686	1	0	0	0	0	1	0	0	0	4504	1261	44	4	3050	4	DHX16	6	30640464	Missense_Mutation	SNP	G	TCGA-IZ-8196-01A-11D-2396-08	10	30640464	140474603	39	37928	290	2									
TNF	7124	hgsc.bcm.edu	37	6	31545047	31545049	+	In_Frame_Del	DEL	CCC	CCC	-			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	CCC	CCC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr6:31545047_31545049delCCC	ENST00000449264.2	+	4	610_612	c.435_437delCCC	c.(433-438)tgcccc>tgc	p.P146del		NM_000594.3	NP_000585.2	P01375	TNFA_HUMAN	tumor necrosis factor	146					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)	GCCAAGGCTGCCCCTCCACCCAT	0.611									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																																							0																																										SO:0001651	inframe_deletion	7124	Familial Cancer Database	incl.: Familial Head and Neck Cancer	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.435_437delCCC	chr6.hg19:g.31545047_31545049delCCC	ENSP00000398698:p.Pro146del		O43647|Q9P1Q2|Q9UIV3	In_Frame_Del	DEL	ENST00000449264.2	hg19	CCDS4702.1																																																																																				0.611	TNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076390.2			-	31545049	CCC	-	31545047	7	5	686	1	0	1	0	1	0	0	0	0	16276	747	26	0	449	0	TNF	6	31545047	In_Frame_Del	DEL	CCC	TCGA-IZ-8196-01A-11D-2396-08	904583	31545047	139570020	40	37929											
DAXX	1616	hgsc.bcm.edu	37	6	33287821	33287822	+	Frame_Shift_Ins	INS	-	-	A	rs145347312		TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr6:33287821_33287822insA	ENST00000374542.5	-	5	1635_1636	c.1431_1432insT	c.(1429-1434)gatgaafs	p.E478fs	ZBTB22_ENST00000431845.2_5'Flank|ZBTB22_ENST00000418724.1_5'Flank|DAXX_ENST00000414083.2_Frame_Shift_Ins_p.E403fs|DAXX_ENST00000477162.1_5'UTR|DAXX_ENST00000266000.6_Frame_Shift_Ins_p.E478fs	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	478	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)			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						tcctcctcttcatcatcctcct	0.505			"Mis, F, N"		Pancreatic neuroendocrine tumors. Paediatric GBM																																		Rec	yes		6	6p21.3	1616	death-domain associated protein		E	0																																										SO:0001589	frameshift_variant	1616			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.1432dupT	chr6.hg19:g.33287822_33287822dupA	ENSP00000363668:p.Glu478fs		B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Frame_Shift_Ins	INS	ENST00000374542.5	hg19	CCDS4776.1																																																																																				0.505	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076403.1			A	33287822	-	A	33287821	7	5	686	1	0	1	1	0	0	0	0	0	4245	835	29	0	806	0	DAXX	6	33287821	Frame_Shift_Ins	INS	-	TCGA-IZ-8196-01A-11D-2396-08	1742774	33287821	137827246	41	37930											
MDN1	23195	hgsc.bcm.edu	37	6	90426453	90426453	+	Missense_Mutation	SNP	C	C	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr6:90426453C>T	ENST00000369393.3	-	44	6774	c.6659G>A	c.(6658-6660)gGc>gAc	p.G2220D	MDN1_ENST00000428876.1_Missense_Mutation_p.G2220D			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2220					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTCAAATGTGCCATGGCTATG	0.473																																																0													114	95	101					6																	90426453		2203	4300	6503	SO:0001583	missense	23195			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.6659G>A	chr6.hg19:g.90426453C>T	ENSP00000358400:p.Gly2220Asp		O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	hg19	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	C	19.83	3.900696	0.72754	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.58210	0.35;0.35	5.35	5.35	0.76521	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.000000	0.85682	D	0.000000	T	0.75428	0.3848	M	0.91768	3.24	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	T	0.77640	-0.2512	10	0.42905	T	0.14	.	19.4391	0.94811	0.0:1.0:0.0:0.0	.	2220	Q9NU22	MDN1_HUMAN	D	2220	ENSP00000358400:G2220D;ENSP00000413970:G2220D	ENSP00000358400:G2220D	G	-	2	0	MDN1	90483174	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	7.600000	0.82769	2.660000	0.90430	0.557000	0.71058	GGC		0.473	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			T	90426453	C	T	90426453	3	4	686	1	0	0	0	0	1	0	0	0	9417	739	26	2	10367	2	MDN1	6	90426453	Missense_Mutation	SNP	C	TCGA-IZ-8196-01A-11D-2396-08	57138632	90426453	80688614	42	37931											
SIM1	6492	hgsc.bcm.edu	37	6	100895187	100895187	+	Missense_Mutation	SNP	A	A	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr6:100895187A>T	ENST00000369208.3	-	9	1737	c.955T>A	c.(955-957)Tcc>Acc	p.S319T	SIM1_ENST00000262901.4_Missense_Mutation_p.S319T			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	319	PAC.				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)		GGCCTGGAGGAGCGACTGTTG	0.597																																																0													165	123	137					6																	100895187		2203	4300	6503	SO:0001583	missense	6492			U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"Basic helix-loop-helix proteins"	10882	protein-coding gene	gene with protein product		603128	"single-minded (Drosophila) homolog 1", "single-minded homolog 1 (Drosophila)"			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.955T>A	chr6.hg19:g.100895187A>T	ENSP00000358210:p.Ser319Thr		Q5TDP7	Missense_Mutation	SNP	ENST00000369208.3	hg19	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	A	26.8	4.772481	0.90108	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.16457	2.34;2.34	6.17	6.17	0.99709	PAS fold-3 (1);	0.000000	0.85682	D	0.000000	T	0.23766	0.0575	L	0.39085	1.19	0.58432	D	0.999999	D	0.76494	0.999	D	0.73380	0.98	T	0.01273	-1.1399	10	0.49607	T	0.09	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	319	P81133	SIM1_HUMAN	T	319	ENSP00000358210:S319T;ENSP00000262901:S319T	ENSP00000262901:S319T	S	-	1	0	SIM1	101001908	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	7.296000	0.78790	2.371000	0.80710	0.533000	0.62120	TCC		0.597	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		T	100895187	A	T	100895187	3	4	686	1	0	0	0	0	1	0	0	0	14329	304	11	5	1361	5	SIM1	6	100895187	Missense_Mutation	SNP	A	TCGA-IZ-8196-01A-11D-2396-08	10468734	100895187	70219880	43	37932											
REV3L	5980	hgsc.bcm.edu	37	6	111695488	111695488	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr6:111695488delT	ENST00000358835.3	-	14	4524	c.4070delA	c.(4069-4071)aatfs	p.N1357fs	REV3L_ENST00000435970.1_Frame_Shift_Del_p.N1279fs|REV3L_ENST00000368802.3_Frame_Shift_Del_p.N1357fs|REV3L_ENST00000368805.1_Frame_Shift_Del_p.N1357fs			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1357					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)		GTCAAATATATTTTTTTGAAT	0.308								DNA polymerases (catalytic subunits)																																								0													63	69	67					6																	111695488		2201	4296	6497	SO:0001589	frameshift_variant	5980			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.4070delA	chr6.hg19:g.111695488delT	ENSP00000351697:p.Asn1357fs		O43214|Q5TC33	Frame_Shift_Del	DEL	ENST00000358835.3	hg19	CCDS5091.2																																																																																				0.308	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		-	111695488	T	-	111695488	7	5	686	1	0	1	0	1	0	0	0	0	13246	1493	52	0	5402	0	REV3L	6	111695488	Frame_Shift_Del	DEL	T	TCGA-IZ-8196-01A-11D-2396-08	10800301	111695488	59419579	44	37933											
AHR	196	hgsc.bcm.edu	37	7	17362177	17362177	+	Missense_Mutation	SNP	A	A	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr7:17362177A>T	ENST00000242057.4	+	3	949	c.306A>T	c.(304-306)agA>agT	p.R102S		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	102					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)	ATAACTGTAGAGCAGCAAATT	0.333																																																0													67	68	68					7																	17362177		2203	4299	6502	SO:0001583	missense	196			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.306A>T	chr7.hg19:g.17362177A>T	ENSP00000242057:p.Arg102Ser		A4D130|Q13728|Q13803|Q13804	Missense_Mutation	SNP	ENST00000242057.4	hg19	CCDS5366.1	.	.	.	.	.	.	.	.	.	.	A	2.672	-0.277392	0.05679	.	.	ENSG00000106546	ENST00000242057	T	0.05199	3.48	0.235	-0.47	0.12131	.	0.875214	0.10272	N	0.694599	T	0.07503	0.0189	M	0.69823	2.125	0.09310	N	1	B	0.29162	0.235	B	0.30401	0.115	T	0.42015	-0.9476	9	0.22706	T	0.39	.	.	.	.	.	102	P35869	AHR_HUMAN	S	102	ENSP00000242057:R102S	ENSP00000242057:R102S	R	+	3	2	AHR	17328702	0.648000	0.27313	0.005000	0.12908	0.666000	0.39218	-0.535000	0.06142	-0.797000	0.04450	-0.818000	0.03119	AGA		0.333	AHR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314620.2	NM_001621		T	17362177	A	T	17362177	3	4	686	1	0	0	0	0	1	0	0	0	416	301	11	5	316	5	AHR	7	17362177	Missense_Mutation	SNP	A	TCGA-IZ-8196-01A-11D-2396-08		17362177	141776486	45	37934											
PDE1C	5137	hgsc.bcm.edu	37	7	31877507	31877507	+	Silent	SNP	C	C	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr7:31877507C>T	ENST00000396191.1	-	10	1514	c.1059G>A	c.(1057-1059)aaG>aaA	p.K353K	PDE1C_ENST00000396182.2_Silent_p.K353K|PDE1C_ENST00000396193.1_Silent_p.K413K|PDE1C_ENST00000396184.3_Silent_p.K353K|PDE1C_ENST00000321453.7_Silent_p.K353K	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	353	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	GCAGAGCAGTCTTCATTGCTT	0.433																																																0													194	187	189					7																	31877507		2203	4300	6503	SO:0001819	synonymous_variant	5137			U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"Phosphodiesterases"	8776	protein-coding gene	gene with protein product		602987	"phosphodiesterase 1C, calmodulin-dependent (70kD)"			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.1059G>A	chr7.hg19:g.31877507C>T			B3KPC6|E9PE92|Q14124|Q8NB10	Silent	SNP	ENST00000396191.1	hg19	CCDS55099.1																																																																																				0.433	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1			T	31877507	C	T	31877507	2	4	686	1	0	0	0	0	0	0	0	1	11637	912	32	2		2	PDE1C	7	31877507	Silent	SNP	C	TCGA-IZ-8196-01A-11D-2396-08	14515330	31877507	127261156	46	37935											
PCLO	27445	hgsc.bcm.edu	37	7	82579067	82579067	+	Missense_Mutation	SNP	C	C	A	rs370030206		TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr7:82579067C>A	ENST00000333891.9	-	6	11174	c.10837G>T	c.(10837-10839)Gct>Tct	p.A3613S	PCLO_ENST00000423517.2_Missense_Mutation_p.A3613S|PCLO_ENST00000437081.1_Missense_Mutation_p.A333S	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						GGGGAAGGAGCCAGCTGTACT	0.483																																																0								C	SER/ALA,SER/ALA	1,4111		0,1,2055	106	107	106		10837,10837	5.6	1	7		106	1,8435		0,1,4217	no	missense,missense	PCLO	NM_033026.5,NM_014510.2	99,99	0,2,6272	AA,AC,CC		0.0119,0.0243,0.0159	benign,benign	3613/5143,3613/4936	82579067	2,12546	2056	4218	6274	SO:0001583	missense	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.10837G>T	chr7.hg19:g.82579067C>A	ENSP00000334319:p.Ala3613Ser			Missense_Mutation	SNP	ENST00000333891.9	hg19	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	11.09	1.536177	0.27475	2.43E-4	1.19E-4	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.15603	2.41;2.41	5.61	5.61	0.85477	.	.	.	.	.	T	0.19327	0.0464	L	0.33485	1.01	0.30557	N	0.764896	B;B;B	0.28419	0.008;0.211;0.211	B;B;B	0.29716	0.004;0.106;0.106	T	0.09443	-1.0674	9	0.87932	D	0	.	19.6465	0.95778	0.0:1.0:0.0:0.0	.	3544;3613;3613	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	S	3544;3613;3613;333	ENSP00000334319:A3613S;ENSP00000388393:A3613S	ENSP00000334319:A3613S	A	-	1	0	PCLO	82417003	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.155000	0.58131	2.642000	0.89623	0.650000	0.86243	GCT		0.483	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		A	82579067	C	A	82579067	3	1	686	1	0	0	0	0	1	0	0	0	11585	739	26	4	4688	4	PCLO	7	82579067	Missense_Mutation	SNP	C	TCGA-IZ-8196-01A-11D-2396-08	50701560	82579067	76559596	47	37936											
MET	4233	hgsc.bcm.edu	37	7	116422117	116422117	+	Missense_Mutation	SNP	T	T	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr7:116422117T>A	ENST00000318493.6	+	18	3839	c.3652T>A	c.(3652-3654)Ttt>Att	p.F1218I	MET_ENST00000397752.3_Missense_Mutation_p.F1200I|MET_ENST00000539704.1_Missense_Mutation_p.F70I			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)	p.F1218V(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)			AAGCAAAAAGTTTGTCCACAG	0.393			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																														Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	1	Substitution - Missense(1)	kidney(1)											57	55	56					7																	116422117		1836	4092	5928	SO:0001583	missense	4233	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	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.3652T>A	chr7.hg19:g.116422117T>A	ENSP00000317272:p.Phe1218Ile		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	hg19	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.735740	0.89482	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000539704	T;T;T	0.25414	1.8;1.8;1.8	5.87	5.87	0.94306	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	T	0.37128	0.0992	N	0.16862	0.45	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.35201	-0.9798	10	0.87932	D	0	.	16.5764	0.84681	0.0:0.0:0.0:1.0	.	1218;1200	P08581-2;P08581	.;MET_HUMAN	I	1200;1218;70	ENSP00000380860:F1200I;ENSP00000317272:F1218I;ENSP00000445020:F70I	ENSP00000317272:F1218I	F	+	1	0	MET	116209353	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.972000	0.88022	2.371000	0.80710	0.533000	0.62120	TTT		0.393	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			A	116422117	T	A	116422117	3	1	686	1	0	0	0	0	1	0	0	0	9487	1725	60	5	3718	5	MET	7	116422117	Missense_Mutation	SNP	T	TCGA-IZ-8196-01A-11D-2396-08	33843050	116422117	42716546	48	37937											
CTTNBP2	83992	hgsc.bcm.edu	37	7	117431390	117431391	+	Frame_Shift_Ins	INS	-	-	C			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr7:117431390_117431391insC	ENST00000160373.3	-	4	1950_1951	c.1859_1860insG	c.(1858-1860)actfs	p.T620fs	CTTNBP2_ENST00000487820.1_5'Flank	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	620					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CAGGTGCCACAGTTAAATCTAT	0.559																																																0																																										SO:0001589	frameshift_variant	83992				CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"Ankyrin repeat domain containing"	15679	protein-coding gene	gene with protein product		609772	"cortactin binding protein 2"	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.1859_1860insG	chr7.hg19:g.117431390_117431391insC	ENSP00000160373:p.Thr620fs		O43389|Q7LG11|Q9C0A5	Frame_Shift_Ins	INS	ENST00000160373.3	hg19	CCDS5774.1																																																																																				0.559	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		C	117431391	-	C	117431390	7	5	686	1	0	1	1	0	0	0	0	0	4047	175	7	0	3211	0	CTTNBP2	7	117431390	Frame_Shift_Ins	INS	-	TCGA-IZ-8196-01A-11D-2396-08	1009273	117431390	41707273	49	37938											
CHRNB3	1142	hgsc.bcm.edu	37	8	42565553	42565553	+	Missense_Mutation	SNP	G	G	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr8:42565553G>A	ENST00000289957.2	+	3	353	c.225G>A	c.(223-225)atG>atA	p.M75I	RP11-412B14.1_ENST00000527318.1_RNA	NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	75					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|drug binding (GO:0008144)			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)	ATCAGCTGATGACAACCAATG	0.313																																																0													72	73	72					8																	42565553		2203	4300	6503	SO:0001583	missense	1142			U62438	CCDS6134.1	8p11.21	2012-02-11	2012-02-07		ENSG00000147432	ENSG00000147432		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1963	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, beta 3 (neuronal)"	118508	"cholinergic receptor, nicotinic, beta polypeptide 3"			1505988	Standard	NM_000749		Approved		uc003xpi.1	Q05901	OTTHUMG00000165262	ENST00000289957.2:c.225G>A	chr8.hg19:g.42565553G>A	ENSP00000289957:p.Met75Ile		Q15827	Missense_Mutation	SNP	ENST00000289957.2	hg19	CCDS6134.1	.	.	.	.	.	.	.	.	.	.	g	19.35	3.810373	0.70797	.	.	ENSG00000147432	ENST00000534391;ENST00000289957	T	0.78816	-1.21	6.03	6.03	0.97812	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	T	0.76702	0.4024	L	0.33624	1.015	0.80722	D	1	P	0.36712	0.566	B	0.43990	0.438	T	0.77763	-0.2466	10	0.87932	D	0	.	18.1139	0.89545	0.0:0.0:1.0:0.0	.	75	Q05901	ACHB3_HUMAN	I	1;75	ENSP00000289957:M75I	ENSP00000289957:M75I	M	+	3	0	CHRNB3	42684710	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.752000	0.91632	2.876000	0.98609	0.644000	0.83932	ATG		0.313	CHRNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383055.1			A	42565553	G	A	42565553	3	1	686	1	0	0	0	0	1	0	0	0	3394	1290	45	2	235	2	CHRNB3	8	42565553	Missense_Mutation	SNP	G	TCGA-IZ-8196-01A-11D-2396-08		42565553	103798469	50	37939											
RBM12B	389677	hgsc.bcm.edu	37	8	94747484	94747484	+	Silent	SNP	A	A	G			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr8:94747484A>G	ENST00000399300.2	-	3	1368	c.1155T>C	c.(1153-1155)caT>caC	p.H385H	RBM12B_ENST00000517700.1_Silent_p.H385H|RBM12B_ENST00000520961.1_Intron|RP11-10N23.4_ENST00000517998.1_RNA	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	385							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)			TTTGTGAAACATGTCCGGGCC	0.368																																																0													124	121	122					8																	94747484		1836	4085	5921	SO:0001819	synonymous_variant	389677				CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"RNA binding motif (RRM) containing"	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.1155T>C	chr8.hg19:g.94747484A>G			A8MYB5	Silent	SNP	ENST00000399300.2	hg19	CCDS43755.1																																																																																				0.368	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383603.1	NM_203390		G	94747484	A	G	94747484	2	3	686	1	0	0	0	0	0	0	0	1	13120	214	8	3		3	RBM12B	8	94747484	Silent	SNP	A	TCGA-IZ-8196-01A-11D-2396-08	52181931	94747484	51616538	51	37940											
VPS13B	157680	hgsc.bcm.edu	37	8	100514063	100514063	+	Missense_Mutation	SNP	C	C	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr8:100514063C>T	ENST00000358544.2	+	26	4130	c.4019C>T	c.(4018-4020)cCa>cTa	p.P1340L	VPS13B_ENST00000395996.1_Missense_Mutation_p.P1340L|VPS13B_ENST00000357162.2_Missense_Mutation_p.P1340L	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1340					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)			CTCTTTGCTCCAGATCCTGAA	0.483																																					Colon(161;2205 2542 7338 31318)											0													132	135	134					8																	100514063		2203	4300	6503	SO:0001583	missense	157680			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"Cohen syndrome 1"	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.4019C>T	chr8.hg19:g.100514063C>T	ENSP00000351346:p.Pro1340Leu		C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	hg19	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.507355	0.44558	.	.	ENSG00000132549	ENST00000357162;ENST00000358544;ENST00000395996	T;T;T	0.45276	0.9;0.9;0.9	5.22	5.22	0.72569	.	0.215869	0.38548	N	0.001641	T	0.32315	0.0825	L	0.34521	1.04	0.53688	D	0.999974	B;B;B;B	0.09022	0.001;0.002;0.001;0.001	B;B;B;B	0.10450	0.005;0.004;0.004;0.002	T	0.06807	-1.0806	10	0.31617	T	0.26	.	12.4938	0.55916	0.0:0.9229:0.0:0.0771	.	1339;1340;1340;1340	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3	.;.;VP13B_HUMAN;.	L	1340	ENSP00000349685:P1340L;ENSP00000351346:P1340L;ENSP00000379318:P1340L	ENSP00000349685:P1340L	P	+	2	0	VPS13B	100583239	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	5.508000	0.67006	2.589000	0.87451	0.557000	0.71058	CCA		0.483	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		T	100514063	C	T	100514063	3	4	686	1	0	0	0	0	1	0	0	0	17195	594	21	2	4240	2	VPS13B	8	100514063	Missense_Mutation	SNP	C	TCGA-IZ-8196-01A-11D-2396-08	5766579	100514063	45849959	52	37941											
C10orf18	54906	hgsc.bcm.edu	37	10	5788364	5788364	+	Missense_Mutation	SNP	T	T	C			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr10:5788364T>C	ENST00000328090.5	+	15	3605	c.2980T>C	c.(2980-2982)Tct>Cct	p.S994P	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	994																	ATGTCAGAGCTCTGTGTACGG	0.483																																																0													102	100	100					10																	5788364		2007	4170	6177	SO:0001583	missense	54906			BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 18"	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.2980T>C	chr10.hg19:g.5788364T>C	ENSP00000328426:p.Ser994Pro		Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	ENST00000328090.5	hg19	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	T	5.833	0.337978	0.11013	.	.	ENSG00000108021	ENST00000328090	D	0.97811	-4.55	5.37	2.97	0.34412	.	0.115838	0.39407	N	0.001362	D	0.94601	0.8260	L	0.43701	1.375	0.09310	N	1	B	0.34161	0.439	B	0.37422	0.249	D	0.88914	0.3361	10	0.48119	T	0.1	.	4.643	0.12558	0.1675:0.0913:0.0:0.7412	.	994	Q5VWN6	F208B_HUMAN	P	994	ENSP00000328426:S994P	ENSP00000328426:S994P	S	+	1	0	C10orf18	5828370	0.079000	0.21365	0.210000	0.23637	0.008000	0.06430	0.877000	0.28106	0.304000	0.22809	0.460000	0.39030	TCT		0.483	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		C	5788364	T	C	5788364	3	2	686	1	0	0	0	0	1	0	0	0	1598	1551	54	3	3026	3	C10orf18	10	5788364	Missense_Mutation	SNP	T	TCGA-IZ-8196-01A-11D-2396-08		5788364	129746383	53	37942											
C1QL3	389941	hgsc.bcm.edu	37	10	16556595	16556595	+	Missense_Mutation	SNP	C	C	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr10:16556595C>T	ENST00000298943.3	-	2	1639	c.700G>A	c.(700-702)Ggg>Agg	p.G234R		NM_001010908.1	NP_001010908.1	Q5VWW1	C1QL3_HUMAN	complement component 1, q subcomponent-like 3	234	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				regulation of synapse organization (GO:0050807)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)		p.G234W(1)		breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	13						TGGGCTTTCCCGCCATCTAAT	0.393																																																1	Substitution - Missense(1)	lung(1)											148	137	141					10																	16556595		2203	4300	6503	SO:0001583	missense	389941				CCDS31156.1	10p13	2012-03-26			ENSG00000165985	ENSG00000165985			19359	protein-coding gene	gene with protein product		615227				21378161	Standard	NM_001010908		Approved	K100, C1ql, C1QTNF13, CTRP13	uc001ioj.1	Q5VWW1	OTTHUMG00000017738	ENST00000298943.3:c.700G>A	chr10.hg19:g.16556595C>T	ENSP00000298943:p.Gly234Arg		A0PJY4|A0PJY5	Missense_Mutation	SNP	ENST00000298943.3	hg19	CCDS31156.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.486586	0.84854	.	.	ENSG00000165985	ENST00000298943;ENST00000448557	T	0.25749	1.78	5.71	5.71	0.89125	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.000000	0.85682	D	0.000000	T	0.52322	0.1727	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.44907	-0.9297	10	0.48119	T	0.1	.	19.8415	0.96690	0.0:1.0:0.0:0.0	.	234	Q5VWW1	C1QL3_HUMAN	R	234;211	ENSP00000298943:G234R	ENSP00000298943:G234R	G	-	1	0	C1QL3	16596601	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.818000	0.86416	2.700000	0.92200	0.655000	0.94253	GGG		0.393	C1QL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047003.1	XM_372305		T	16556595	C	T	16556595	3	4	686	1	0	0	0	0	1	0	0	0	1962	652	23	1	71	1	C1QL3	10	16556595	Missense_Mutation	SNP	C	TCGA-IZ-8196-01A-11D-2396-08	10768231	16556595	118978152	54	37943											
ITGB1	3688	hgsc.bcm.edu	37	10	33201013	33201013	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr10:33201013delG	ENST00000396033.2	-	12	1644	c.1509delC	c.(1507-1509)agcfs	p.S503fs	ITGB1_ENST00000302278.3_Frame_Shift_Del_p.S503fs|ITGB1_ENST00000374956.4_Frame_Shift_Del_p.S503fs|ITGB1_ENST00000423113.1_Frame_Shift_Del_p.S503fs	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	503	Cysteine-rich tandem repeats.				axon extension (GO:0048675)|axon guidance (GO:0007411)|B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cardiac muscle cell differentiation (GO:0055007)|cell fate specification (GO:0001708)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular response to ionizing radiation (GO:0071479)|cellular response to mechanical stimulus (GO:0071260)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|formation of radial glial scaffolds (GO:0021943)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell migration (GO:0008354)|heterotypic cell-cell adhesion (GO:0034113)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|maternal process involved in female pregnancy (GO:0060135)|mesodermal cell differentiation (GO:0048333)|negative regulation of anoikis (GO:2000811)|negative regulation of cell projection organization (GO:0031345)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein transport within lipid bilayer (GO:0032594)|regulation of cell cycle (GO:0051726)|regulation of collagen catabolic process (GO:0010710)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of immune response (GO:0050776)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|response to transforming growth factor beta (GO:0071559)|sarcomere organization (GO:0045214)|tight junction assembly (GO:0070830)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha1-beta1 complex (GO:0034665)|integrin alpha10-beta1 complex (GO:0034680)|integrin alpha11-beta1 complex (GO:0034681)|integrin alpha2-beta1 complex (GO:0034666)|integrin alpha3-beta1 complex (GO:0034667)|integrin alpha7-beta1 complex (GO:0034677)|integrin alpha8-beta1 complex (GO:0034678)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|intercalated disc (GO:0014704)|invadopodium membrane (GO:0071438)|membrane (GO:0016020)|membrane raft (GO:0045121)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|cell adhesion molecule binding (GO:0050839)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|peptide binding (GO:0042277)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|virus receptor activity (GO:0001618)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)			Antithymocyte globulin(DB00098)	CTTCATCTGTGCTGCATTCAC	0.413																																																0													143	120	128					10																	33201013		2203	4300	6503	SO:0001589	frameshift_variant	3688			BC020057	CCDS7174.1	10p11.2	2010-10-13			ENSG00000150093	ENSG00000150093		"CD molecules", "Integrins"	6153	protein-coding gene	gene with protein product		135630		FNRB, MSK12, MDF2		2524991	Standard	NM_033668		Approved	CD29, GPIIA	uc001iwt.4	P05556	OTTHUMG00000017928	ENST00000396033.2:c.1509delC	chr10.hg19:g.33201013delG	ENSP00000379350:p.Ser503fs		A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6	Frame_Shift_Del	DEL	ENST00000396033.2	hg19	CCDS7174.1																																																																																				0.413	ITGB1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047496.1	NM_002211		-	33201013	G	-	33201013	7	5	686	1	0	1	0	1	0	0	0	0	7892	1310	46	0	1145	0	ITGB1	10	33201013	Frame_Shift_Del	DEL	G	TCGA-IZ-8196-01A-11D-2396-08	16644418	33201013	102333734	55	37944											
TPP1	1200	hgsc.bcm.edu	37	11	6638089	6638089	+	Splice_Site	DEL	A	A	-			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr11:6638089delA	ENST00000299427.6	-	7	749	c.689delT	c.(688-690)ttc>tc	p.F230fs	RP11-732A19.9_ENST00000545572.1_RNA|TPP1_ENST00000533371.1_5'UTR|TPP1_ENST00000534644.1_5'Flank	NM_000391.3	NP_000382.3	P49638	TTPA_HUMAN	tripeptidyl peptidase I	0	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				embryonic placenta development (GO:0001892)|intermembrane transport (GO:0046909)|intracellular pH reduction (GO:0051452)|lipid metabolic process (GO:0006629)|negative regulation of cell death (GO:0060548)|negative regulation of establishment of blood-brain barrier (GO:0090212)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|response to toxic substance (GO:0009636)|transport (GO:0006810)|vitamin E metabolic process (GO:0042360)|vitamin transport (GO:0051180)	cytosol (GO:0005829)|late endosome (GO:0005770)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)	Vitamin E(DB00163)	CTGCTCCAGGAACTATGGAGG	0.567																																																0													84	82	83					11																	6638089		2201	4296	6497	SO:0001630	splice_region_variant	1200			AF017456	CCDS7770.1	11p15.4	2014-09-17	2004-12-09	2004-12-10	ENSG00000166340	ENSG00000166340			2073	protein-coding gene	gene with protein product	"TPP I"	607998	"ceroid-lipofuscinosis, neuronal 2, late infantile (Jansky-Bielschowsky disease)", "spinocerebellar ataxia, autosomal recessive 7"	CLN2, SCAR7		9653647, 23418007	Standard	NM_000391		Approved		uc001mel.1	O14773	OTTHUMG00000133404	ENST00000299427.6:c.688-1T>-	chr11.hg19:g.6638089delA			Q71V64	Frame_Shift_Del	DEL	ENST00000299427.6	hg19	CCDS7770.1																																																																																				0.567	TPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257261.2		Frame_Shift_Del	-	6638089	A	-	6638089	8	5	686	1	0	1	0	1	0	0	1	0	16416	260	9	0	1030	0	TPP1	11	6638089	Splice_Site	DEL	A	TCGA-IZ-8196-01A-11D-2396-08		6638089	128368427	56	37945											
API5	8539	hgsc.bcm.edu	37	11	43342441	43342441	+	Missense_Mutation	SNP	T	T	C			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr11:43342441T>C	ENST00000531273.1	+	3	441	c.302T>C	c.(301-303)aTa>aCa	p.I101T	API5_ENST00000455725.2_Missense_Mutation_p.I90T|API5_ENST00000378852.3_Missense_Mutation_p.I101T|API5_ENST00000534600.1_Missense_Mutation_p.I101T|API5_ENST00000534695.1_Intron|API5_ENST00000420461.2_Missense_Mutation_p.I47T			Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5	101	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						GTGGCAGATATACTAACGCAA	0.343																																					Pancreas(1;98 122 5625 20895 49453)											0													83	85	84					11																	43342441		2203	4300	6503	SO:0001583	missense	8539			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.302T>C	chr11.hg19:g.43342441T>C	ENSP00000431391:p.Ile101Thr		B4DGR0|B4DRJ2|D3DR21|O15441|Q9Y4J7	Missense_Mutation	SNP	ENST00000531273.1	hg19	CCDS44572.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.975544	0.74360	.	.	ENSG00000166181	ENST00000455725;ENST00000531273;ENST00000420461;ENST00000378852;ENST00000534600	T;T;T;T;T	0.20738	2.05;2.05;2.05;2.05;2.05	6.13	6.13	0.99165	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.36220	0.0959	L	0.45422	1.42	0.58432	D	0.999999	P;P;D;P	0.61697	0.951;0.92;0.99;0.952	P;P;P;P	0.61722	0.675;0.551;0.893;0.6	T	0.01570	-1.1322	10	0.34782	T	0.22	-2.8866	16.4795	0.84153	0.0:0.0:0.0:1.0	.	47;101;90;101	B4DGR0;Q9BZZ5;B4E283;Q9BZZ5-2	.;API5_HUMAN;.;.	T	90;101;47;101;101	ENSP00000399341:I90T;ENSP00000431391:I101T;ENSP00000402540:I47T;ENSP00000368129:I101T;ENSP00000434462:I101T	ENSP00000368129:I101T	I	+	2	0	API5	43299017	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	7.981000	0.88123	2.367000	0.80283	0.529000	0.55759	ATA		0.343	API5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389545.1	NM_006595		C	43342441	T	C	43342441	3	2	686	1	0	0	0	0	1	0	0	0	773	1406	49	3	312	3	API5	11	43342441	Missense_Mutation	SNP	T	TCGA-IZ-8196-01A-11D-2396-08	36704352	43342441	91664075	57	37946											
OR8I2	120586	hgsc.bcm.edu	37	11	55861616	55861616	+	Missense_Mutation	SNP	C	C	T	rs140206966	byFrequency	TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr11:55861616C>T	ENST00000302124.2	+	1	864	c.833C>T	c.(832-834)aCg>aTg	p.T278M		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, 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)	p.T278M(1)		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)					GTATTCTATACGATTGTCATT	0.408																																																1	Substitution - Missense(1)	endometrium(1)											62	61	62					11																	55861616		2201	4296	6497	SO:0001583	missense	120586			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.833C>T	chr11.hg19:g.55861616C>T	ENSP00000303864:p.Thr278Met		B2RNN4|Q6IFC0|Q96RC5	Missense_Mutation	SNP	ENST00000302124.2	hg19	CCDS31517.1	.	.	.	.	.	.	.	.	.	.	C	12.23	1.876897	0.33162	.	.	ENSG00000172154	ENST00000302124	T	0.00262	8.4	4.33	4.33	0.51752	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41605	U	0.000856	T	0.00608	0.0020	M	0.83118	2.625	0.32279	N	0.567785	D	0.89917	1.0	D	0.70935	0.971	T	0.50988	-0.8762	10	0.87932	D	0	-16.3432	15.8041	0.78481	0.0:1.0:0.0:0.0	.	278	Q8N0Y5	OR8I2_HUMAN	M	278	ENSP00000303864:T278M	ENSP00000303864:T278M	T	+	2	0	OR8I2	55618192	0.000000	0.05858	0.985000	0.45067	0.054000	0.15201	0.638000	0.24674	2.120000	0.65058	0.447000	0.29281	ACG		0.408	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001003750		T	55861616	C	T	55861616	3	4	686	1	0	0	0	0	1	0	0	0	11242	536	19	1	835	1	OR8I2	11	55861616	Missense_Mutation	SNP	C	TCGA-IZ-8196-01A-11D-2396-08	12519175	55861616	79144900	58	37947											
HNRNPUL2	221092	hgsc.bcm.edu	37	11	62488862	62488862	+	Missense_Mutation	SNP	T	T	C			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr11:62488862T>C	ENST00000301785.5	-	9	1708	c.1516A>G	c.(1516-1518)Aaa>Gaa	p.K506E	HNRNPUL2-BSCL2_ENST00000403734.2_Missense_Mutation_p.K506E	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	506						membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TCTCGGCTTTTGGGGTCCATC	0.428																																																0													153	158	157					11																	62488862		1846	4094	5940	SO:0001583	missense	221092				CCDS41659.1	11q12	2013-07-16		2008-04-18	ENSG00000214753	ENSG00000214753			25451	protein-coding gene	gene with protein product				HNRPUL2			Standard	NM_001079559		Approved	DKFZp762N1910	uc001nuw.3	Q1KMD3	OTTHUMG00000167773	ENST00000301785.5:c.1516A>G	chr11.hg19:g.62488862T>C	ENSP00000301785:p.Lys506Glu		Q8N3B3	Missense_Mutation	SNP	ENST00000301785.5	hg19	CCDS41659.1	.	.	.	.	.	.	.	.	.	.	T	18.84	3.709456	0.68730	.	.	ENSG00000214753	ENST00000301785	T	0.40756	1.02	5.99	5.99	0.97316	Zeta toxin domain (1);	0.158288	0.64402	D	0.000020	T	0.40719	0.1128	N	0.25286	0.73	0.35130	D	0.767875	P	0.51791	0.948	P	0.51866	0.682	T	0.49934	-0.8886	10	0.30854	T	0.27	-16.7044	14.4463	0.67352	0.0:0.0:0.0:1.0	.	506	Q1KMD3	HNRL2_HUMAN	E	506	ENSP00000301785:K506E	ENSP00000301785:K506E	K	-	1	0	HNRNPUL2	62245438	0.897000	0.30589	1.000000	0.80357	0.995000	0.86356	1.144000	0.31565	2.291000	0.77112	0.533000	0.62120	AAA		0.428	HNRNPUL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396208.2	XM_495877		C	62488862	T	C	62488862	3	2	686	1	0	0	0	0	1	0	0	0	7277	1821	63	3	751	3	HNRNPUL2	11	62488862	Missense_Mutation	SNP	T	TCGA-IZ-8196-01A-11D-2396-08	6627246	62488862	72517654	59	37948											
PCF11	51585	hgsc.bcm.edu	37	11	82877727	82877727	+	Silent	SNP	A	A	G			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr11:82877727A>G	ENST00000298281.4	+	5	2240	c.1788A>G	c.(1786-1788)agA>agG	p.R596R		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	596					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						CTGCCAAAAGATGGAAATCTG	0.343																																																0													74	75	75					11																	82877727		1755	3854	5609	SO:0001819	synonymous_variant	51585			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.1788A>G	chr11.hg19:g.82877727A>G			A6H8W7|O43671|Q6P0X8	Silent	SNP	ENST00000298281.4	hg19	CCDS44689.1																																																																																				0.343	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885		G	82877727	A	G	82877727	2	3	686	1	0	0	0	0	0	0	0	1	11575	330	12	3		3	PCF11	11	82877727	Silent	SNP	A	TCGA-IZ-8196-01A-11D-2396-08	20388865	82877727	52128789	60	37949											
NCAM1	4684	hgsc.bcm.edu	37	11	113078684	113078684	+	Missense_Mutation	SNP	G	G	C			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr11:113078684G>C	ENST00000533760.1	+	7	1121	c.522G>C	c.(520-522)aaG>aaC	p.K174N	NCAM1_ENST00000316851.7_Missense_Mutation_p.K282N|NCAM1_ENST00000401611.2_Missense_Mutation_p.K291N|NCAM1_ENST00000397957.4_3'UTR	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	292	Ig-like C2-type 2.				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)		CTGAGAACAAGGCTGGCGAGC	0.532																																																0													61	61	61					11																	113078684		2078	4216	6294	SO:0001583	missense	4684				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.522G>C	chr11.hg19:g.113078684G>C	ENSP00000473281:p.Lys174Asn		A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Missense_Mutation	SNP	ENST00000533760.1	hg19		.	.	.	.	.	.	.	.	.	.	G	18.41	3.617792	0.66787	.	.	ENSG00000149294	ENST00000531044;ENST00000401611;ENST00000316851	T;T	0.68181	-0.31;-0.31	5.57	3.47	0.39725	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.041493	0.85682	D	0.000000	T	0.78400	0.4277	.	.	.	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.997;0.995;0.994;0.983	D;D;D;D;D	0.71870	0.963;0.917;0.975;0.952;0.925	T	0.79697	-0.1695	9	0.87932	D	0	-16.9107	8.6894	0.34258	0.2821:0.0:0.7179:0.0	.	292;292;292;292;292	P13591-5;P13591-1;P13591;P13591-3;P13591-6	.;.;NCAM1_HUMAN;.;.	N	174;291;282	ENSP00000384055:K291N;ENSP00000318472:K282N	ENSP00000318472:K282N	K	+	3	2	NCAM1	112583894	1.000000	0.71417	1.000000	0.80357	0.714000	0.41099	3.113000	0.50376	1.347000	0.45714	0.655000	0.94253	AAG		0.532	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2	NM_000615		C	113078684	G	C	113078684	3	2	686	1	0	0	0	0	1	0	0	0	10204	991	35	4	903	4	NCAM1	11	113078684	Missense_Mutation	SNP	G	TCGA-IZ-8196-01A-11D-2396-08	30200957	113078684	21927832	61	37950											
C3AR1	719	hgsc.bcm.edu	37	12	8211578	8211578	+	Missense_Mutation	SNP	G	G	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr12:8211578G>A	ENST00000307637.4	-	2	1407	c.1204C>T	c.(1204-1206)Ctt>Ttt	p.L402F		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	402					blood circulation (GO:0008015)|chemotaxis (GO:0006935)|complement receptor mediated signaling pathway (GO:0002430)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation vascular endothelial growth factor production (GO:0010575)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C3a anaphylatoxin receptor activity (GO:0004943)|complement component C3a receptor activity (GO:0004876)|G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		GGGTCAGTAAGCAATGACAGG	0.483																																																0													73	68	70					12																	8211578		2203	4300	6503	SO:0001583	missense	719			U28488	CCDS8588.1	12p13.31	2012-08-10				ENSG00000171860		"Complement system", "GPCR / Class A : Complement component receptors"	1319	protein-coding gene	gene with protein product		605246				8605247	Standard	NM_004054		Approved	C3AR, AZ3B	uc001qtv.1	Q16581		ENST00000307637.4:c.1204C>T	chr12.hg19:g.8211578G>A	ENSP00000302079:p.Leu402Phe		O43771|Q92868	Missense_Mutation	SNP	ENST00000307637.4	hg19	CCDS8588.1	.	.	.	.	.	.	.	.	.	.	G	0.033	-1.321727	0.01320	.	.	ENSG00000171860	ENST00000307637	T	0.37235	1.21	5.26	0.103	0.14526	GPCR, rhodopsin-like superfamily (1);	1.231120	0.05729	N	0.599303	T	0.12518	0.0304	N	0.01800	-0.715	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.23332	-1.0191	10	0.15499	T	0.54	.	3.1161	0.06375	0.4472:0.0:0.2539:0.2989	.	402	Q16581	C3AR_HUMAN	F	402	ENSP00000302079:L402F	ENSP00000302079:L402F	L	-	1	0	C3AR1	8102845	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.859000	0.04277	0.118000	0.18165	-0.238000	0.12139	CTT		0.483	C3AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400254.1			A	8211578	G	A	8211578	3	1	686	1	0	0	0	0	1	0	0	0	2207	971	34	2	248	2	C3AR1	12	8211578	Missense_Mutation	SNP	G	TCGA-IZ-8196-01A-11D-2396-08		8211578	125640317	62	37951											
ESPL1	9700	hgsc.bcm.edu	37	12	53687232	53687232	+	Missense_Mutation	SNP	T	T	C			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr12:53687232T>C	ENST00000257934.4	+	31	6428	c.6337T>C	c.(6337-6339)Tat>Cat	p.Y2113H	PFDN5_ENST00000550846.1_5'Flank|ESPL1_ENST00000552462.1_Missense_Mutation_p.Y2113H|PFDN5_ENST00000551018.1_5'Flank|PFDN5_ENST00000351500.3_5'Flank|PFDN5_ENST00000334478.4_5'Flank	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	2113					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						ACCTATAGCCTATGGCTTGCC	0.527																																					Colon(53;1069 1201 2587 5382)											0													64	65	65					12																	53687232		2203	4300	6503	SO:0001583	missense	9700			D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"separin", "separase", "separin, cysteine protease"	604143	"extra spindle poles like 1 (S. cerevisiae)"			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.6337T>C	chr12.hg19:g.53687232T>C	ENSP00000257934:p.Tyr2113His			Missense_Mutation	SNP	ENST00000257934.4	hg19	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.234561	0.79800	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.56444	0.46;0.46	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.76702	0.4024	M	0.90198	3.095	0.53688	D	0.999976	D	0.89917	1.0	D	0.87578	0.998	T	0.82204	-0.0573	10	0.87932	D	0	.	13.8969	0.63778	0.0:0.0:0.0:1.0	.	2113	Q14674	ESPL1_HUMAN	H	2113;1788;2113	ENSP00000257934:Y2113H;ENSP00000449831:Y2113H	ENSP00000257934:Y2113H	Y	+	1	0	ESPL1	51973499	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.612000	0.82975	2.178000	0.69098	0.460000	0.39030	TAT		0.527	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		C	53687232	T	C	53687232	3	2	686	1	0	0	0	0	1	0	0	0	5255	1522	53	3	6455	3	ESPL1	12	53687232	Missense_Mutation	SNP	T	TCGA-IZ-8196-01A-11D-2396-08	45475654	53687232	80164663	63	37952											
DUSP6	1848	hgsc.bcm.edu	37	12	89743102	89743107	+	In_Frame_Del	DEL	CTGGAA	CTGGAA	-			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	CTGGAA	CTGGAA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr12:89743102_89743107delCTGGAA	ENST00000279488.7	-	3	2301_2306	c.1070_1075delTTCCAG	c.(1069-1077)gttccagca>gca	p.VP357del	DUSP6_ENST00000308385.6_In_Frame_Del_p.VP211del|DUSP6_ENST00000547291.1_In_Frame_Del_p.VP232del|DUSP6_ENST00000547140.1_5'Flank	NM_001946.2	NP_001937.2	Q16828	DUS6_HUMAN	dual specificity phosphatase 6	357	Tyrosine-protein phosphatase.				cell differentiation (GO:0030154)|dorsal/ventral pattern formation (GO:0009953)|inactivation of MAPK activity (GO:0000188)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of apoptotic process (GO:0043065)|regulation of endodermal cell fate specification (GO:0042663)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of heart growth (GO:0060420)|response to drug (GO:0042493)|response to nitrosative stress (GO:0051409)|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)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)			large_intestine(5)|lung(8)|skin(2)|urinary_tract(1)	16						AGCTGCTGTGCTGGAACCCTGTTGTC	0.5																																					Colon(132;3456 5224)											0																																										SO:0001651	inframe_deletion	1848			BC037236	CCDS9033.1, CCDS9034.1	12q22-q23	2011-06-09				ENSG00000139318		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3072	protein-coding gene	gene with protein product		602748				8626780, 9205128	Standard	NM_001946		Approved	MKP-3, PYST1	uc001tay.3	Q16828		ENST00000279488.7:c.1070_1075delTTCCAG	chr12.hg19:g.89743102_89743107delCTGGAA	ENSP00000279488:p.Val357_Pro358del		O75109|Q53Y75|Q9BSH6	In_Frame_Del	DEL	ENST00000279488.7	hg19	CCDS9033.1																																																																																				0.5	DUSP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406534.2	NM_001946, NM_022652		-	89743107	CTGGAA	-	89743102	7	5	686	1	0	1	0	1	0	0	0	0	4831	797	28	0	74	0	DUSP6	12	89743102	In_Frame_Del	DEL	CTGGAA	TCGA-IZ-8196-01A-11D-2396-08	36055870	89743102	44108793	64	37953											
ALDH2	217	hgsc.bcm.edu	37	12	112227694	112227694	+	Missense_Mutation	SNP	T	T	C			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr12:112227694T>C	ENST00000261733.2	+	5	569	c.508T>C	c.(508-510)Tac>Cac	p.Y170H	RP11-162P23.2_ENST00000546840.2_Silent_p.A166A|ALDH2_ENST00000416293.3_Missense_Mutation_p.Y123H	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN	aldehyde dehydrogenase 2 family (mitochondrial)	170					alcohol metabolic process (GO:0006066)|carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|electron carrier activity (GO:0009055)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Amyl Nitrite(DB01612)|Benzyl alcohol(DB06770)|Disulfiram(DB00822)|Guanidine(DB00536)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)	CTTCTTCAGCTACACACGCCA	0.527			T	HMGA2	leiomyoma																																		Dom	yes		12	12q24.2	217	aldehyde dehydrogenase 2 family (mitochondrial)		M	0													100	87	91					12																	112227694		2203	4300	6503	SO:0001583	missense	217			M26760	CCDS9155.1, CCDS55885.1	12q24.12	2007-12-14				ENSG00000111275	1.2.1.3	"Aldehyde dehydrogenases"	404	protein-coding gene	gene with protein product		100650				4015823, 2987944	Standard	NM_000690		Approved		uc001tst.3	P05091	OTTHUMG00000169603	ENST00000261733.2:c.508T>C	chr12.hg19:g.112227694T>C	ENSP00000261733:p.Tyr170His		B4DW54|E7EUE5|Q03639|Q6IB13|Q6IV71	Missense_Mutation	SNP	ENST00000261733.2	hg19	CCDS9155.1	.	.	.	.	.	.	.	.	.	.	T	27.0	4.792458	0.90453	.	.	ENSG00000257767;ENSG00000111275;ENSG00000111275;ENSG00000111275;ENSG00000111275	ENST00000546840;ENST00000416293;ENST00000261733;ENST00000553044;ENST00000552234	T;T	0.77620	-1.11;-1.11	5.17	5.17	0.71159	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.172373	0.53938	D	0.000059	D	0.89612	0.6765	M	0.88105	2.93	0.53688	D	0.999979	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.987;0.997;0.998	D	0.91609	0.5301	10	0.72032	D	0.01	.	15.3139	0.74059	0.0:0.0:0.0:1.0	.	123;170;170	E7EUE5;F8VXI5;P05091	.;.;ALDH2_HUMAN	H	151;123;170;170;30	ENSP00000403349:Y123H;ENSP00000261733:Y170H	ENSP00000261733:Y170H	Y	+	1	0	ALDH2;RP11-162P23.2	110712077	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.655000	0.83696	2.071000	0.62044	0.460000	0.39030	TAC		0.527	ALDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405008.1	NM_000690		C	112227694	T	C	112227694	3	2	686	1	0	0	0	0	1	0	0	0	496	1522	53	3	526	3	ALDH2	12	112227694	Missense_Mutation	SNP	T	TCGA-IZ-8196-01A-11D-2396-08	22484592	112227694	21624201	65	37954											
HNF1A	6927	hgsc.bcm.edu	37	12	121437158	121437158	+	Missense_Mutation	SNP	T	T	C			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr12:121437158T>C	ENST00000257555.6	+	8	1815	c.1589T>C	c.(1588-1590)cTg>cCg	p.L530P	HNF1A_ENST00000544413.1_Missense_Mutation_p.L530P|RP11-216P16.2_ENST00000606238.1_RNA|HNF1A_ENST00000541395.1_Missense_Mutation_p.L530P			P20823	HNF1A_HUMAN	HNF1 homeobox A	530					glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|insulin secretion (GO:0030073)|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)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|renal glucose absorption (GO:0035623)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ACCACCAACCTGAGCGCCCTG	0.687									Hepatic Adenoma, Familial Clustering of																																							0													83	85	84					12																	121437158		2203	4300	6503	SO:0001583	missense	6927	Familial Cancer Database	incl. Maturity-Onset Diabetes of the Young type 3, MODY3	M57732	CCDS9209.1	12q24.31	2014-09-17	2007-08-24	2007-08-24	ENSG00000135100	ENSG00000135100		"Homeoboxes / HNF class"	11621	protein-coding gene	gene with protein product		142410	"transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor"	MODY3, TCF1		1535333, 7795649	Standard	NM_000545		Approved	HNF1, LFB1	uc001tzg.3	P20823	OTTHUMG00000151015	ENST00000257555.6:c.1589T>C	chr12.hg19:g.121437158T>C	ENSP00000257555:p.Leu530Pro		A5Z2R8|E0YMJ5|E0YMK0|E0YMK1|E2I9R4|E2I9R5|F5H5U3|Q2M3H2|Q99861	Missense_Mutation	SNP	ENST00000257555.6	hg19	CCDS9209.1	.	.	.	.	.	.	.	.	.	.	T	26.7	4.760491	0.89932	.	.	ENSG00000135100	ENST00000257555;ENST00000535125;ENST00000537424;ENST00000543027;ENST00000541395;ENST00000544413	D;D;D	0.98617	-5.03;-5.03;-5.03	5.52	5.52	0.82312	Hepatocyte nuclear factor 1, beta isoform, C-terminal (1);	0.000000	0.48286	D	0.000189	D	0.98658	0.9550	L	0.52573	1.65	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.993;0.996	D	0.99890	1.1133	10	0.72032	D	0.01	-15.5351	14.8565	0.70341	0.0:0.0:0.0:1.0	.	530;530	F5H0K0;P20823	.;HNF1A_HUMAN	P	530;422;530;351;530;530	ENSP00000257555:L530P;ENSP00000443112:L530P;ENSP00000438804:L530P	ENSP00000257555:L530P	L	+	2	0	HNF1A	119921541	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.616000	0.83018	2.104000	0.64026	0.528000	0.53228	CTG		0.687	HNF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320957.5	NM_000545		C	121437158	T	C	121437158	3	2	686	1	0	0	0	0	1	0	0	0	7253	1580	55	3	1619	3	HNF1A	12	121437158	Missense_Mutation	SNP	T	TCGA-IZ-8196-01A-11D-2396-08	9209464	121437158	12414737	66	37955											
BRCA2	675	hgsc.bcm.edu	37	13	32907353	32907353	+	Missense_Mutation	SNP	A	A	C			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr13:32907353A>C	ENST00000380152.3	+	10	1971	c.1738A>C	c.(1738-1740)Ata>Cta	p.I580L	BRCA2_ENST00000544455.1_Missense_Mutation_p.I580L			P51587	BRCA2_HUMAN	breast cancer 2, early onset	580					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)		TGCAGGTTTAATATCCACTTT	0.338			"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)	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"L, E"	0													44	49	47					13																	32907353		2203	4300	6503	SO:0001583	missense	675	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)	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.1738A>C	chr13.hg19:g.32907353A>C	ENSP00000369497:p.Ile580Leu		O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	hg19	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	A	14.91	2.677622	0.47886	.	.	ENSG00000139618	ENST00000380152;ENST00000544455;ENST00000530893	T;T	0.00776	5.71;5.71	5.5	4.32	0.51571	.	0.150989	0.47093	D	0.000244	T	0.00906	0.0030	M	0.70275	2.135	0.25438	N	0.988123	P;B	0.39748	0.686;0.402	B;B	0.32211	0.088;0.142	T	0.45190	-0.9278	10	0.15952	T	0.53	.	5.4332	0.16464	0.7537:0.0:0.0834:0.1629	.	580;580	P51587;A1YBP1	BRCA2_HUMAN;.	L	580;580;578	ENSP00000369497:I580L;ENSP00000439902:I580L	ENSP00000369497:I580L	I	+	1	0	BRCA2	31805353	0.997000	0.39634	0.995000	0.50966	0.698000	0.40448	0.972000	0.29409	1.016000	0.39470	0.528000	0.53228	ATA		0.338	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		C	32907353	A	C	32907353	3	2	686	1	0	0	0	0	1	0	0	0	1501	101	4	5	1772	5	BRCA2	13	32907353	Missense_Mutation	SNP	A	TCGA-IZ-8196-01A-11D-2396-08		32907353	82262525	67	37956											
ESD	2098	hgsc.bcm.edu	37	13	47354151	47354151	+	Silent	SNP	A	A	G			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr13:47354151A>G	ENST00000378720.3	-	8	701	c.519T>C	c.(517-519)gcT>gcC	p.A173A	ESD_ENST00000495654.1_5'UTR|ESD_ENST00000378697.1_Silent_p.A144A	NM_001984.1	NP_001975.1	P10768	ESTD_HUMAN	esterase D	173					formaldehyde catabolic process (GO:0046294)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carboxylic ester hydrolase activity (GO:0052689)|hydrolase activity, acting on ester bonds (GO:0016788)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)|S-formylglutathione hydrolase activity (GO:0018738)			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	9		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)		GBM - Glioblastoma multiforme(144;2.66e-05)	Glutathione(DB00143)	TGCAAATTGGAGCAAATGCTG	0.333																																																0													91	91	91					13																	47354151		2203	4299	6502	SO:0001819	synonymous_variant	2098			M13450	CCDS9404.1	13q14.1-q14.2	2014-05-13	2010-05-07		ENSG00000139684	ENSG00000139684	3.1.2.12		3465	protein-coding gene	gene with protein product	"S-formylglutathione hydrolase"	133280	"esterase D/formylglutathione hydrolase"				Standard	NM_001984		Approved		uc001vbn.3	P10768	OTTHUMG00000016878	ENST00000378720.3:c.519T>C	chr13.hg19:g.47354151A>G			Q5TBU8|Q5TBV0|Q5TBV2|Q9BVJ2	Silent	SNP	ENST00000378720.3	hg19	CCDS9404.1	.	.	.	.	.	.	.	.	.	.	A	9.962	1.223120	0.22457	.	.	ENSG00000139684	ENST00000412582	.	.	.	6.16	3.7	0.42460	.	.	.	.	.	T	0.57140	0.2033	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50717	-0.8795	4	.	.	.	-8.9614	7.2303	0.26038	0.6488:0.2815:0.0697:0.0	.	.	.	.	P	121	.	.	L	-	2	0	ESD	46252152	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.509000	0.35780	0.536000	0.28733	-0.299000	0.09455	CTC		0.333	ESD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044826.1			G	47354151	A	G	47354151	2	3	686	1	0	0	0	0	0	0	0	1	5252	291	11	3		3	ESD	13	47354151	Silent	SNP	A	TCGA-IZ-8196-01A-11D-2396-08	14446798	47354151	67815727	68	37957											
OR11G2	390439	hgsc.bcm.edu	37	14	20666034	20666034	+	Silent	SNP	C	C	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr14:20666034C>T	ENST00000357366.3	+	1	540	c.540C>T	c.(538-540)acC>acT	p.T180T		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	180						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(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		GTCTCTGTACCAATCTTGTGG	0.448																																																0													111	94	100					14																	20666034		2203	4300	6503	SO:0001819	synonymous_variant	390439				CCDS32032.1	14q11.2	2013-09-24			ENSG00000196832	ENSG00000196832		"GPCR / Class A : Olfactory receptors"	15346	protein-coding gene	gene with protein product							Standard	NM_001005503		Approved		uc010tlb.2	Q8NGC1	OTTHUMG00000167700	ENST00000357366.3:c.540C>T	chr14.hg19:g.20666034C>T			Q6IF09|Q96R33	Silent	SNP	ENST00000357366.3	hg19	CCDS32032.1																																																																																				0.448	OR11G2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395722.1			T	20666034	C	T	20666034	2	4	686	1	0	0	0	0	0	0	0	1	10927	581	21	2		2	OR11G2	14	20666034	Silent	SNP	C	TCGA-IZ-8196-01A-11D-2396-08		20666034	86683506	69	37958											
C14orf37	145407	hgsc.bcm.edu	37	14	58563683	58563683	+	Missense_Mutation	SNP	C	C	G			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr14:58563683C>G	ENST00000267485.7	-	5	2042	c.1848G>C	c.(1846-1848)gaG>gaC	p.E616D		NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	616	Glu-rich.					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						cctcttcatcctcatcttctt	0.398																																																0													195	145	162					14																	58563683		2203	4300	6503	SO:0001583	missense	145407				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.1848G>C	chr14.hg19:g.58563683C>G	ENSP00000267485:p.Glu616Asp		A8K8Z8|Q6P5Q1|Q86TY1	Missense_Mutation	SNP	ENST00000267485.7	hg19	CCDS32089.1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.093373	0.36952	.	.	ENSG00000139971	ENST00000267485;ENST00000438670	T	0.11063	2.81	4.97	-3.62	0.04543	Armadillo-like helical (1);	0.466239	0.19773	N	0.106394	T	0.07143	0.0181	L	0.38531	1.155	0.30330	N	0.786721	B;B;B	0.24576	0.106;0.106;0.106	B;B;B	0.26770	0.073;0.073;0.073	T	0.12016	-1.0564	10	0.87932	D	0	-0.7422	5.8628	0.18759	0.0:0.3161:0.242:0.4419	.	654;616;616	B4DMS4;A8K990;Q86TY3	.;.;CN037_HUMAN	D	616;654	ENSP00000267485:E616D	ENSP00000267485:E616D	E	-	3	2	C14orf37	57633436	0.186000	0.23225	0.976000	0.42696	0.636000	0.38137	-1.104000	0.03326	-0.558000	0.06118	0.561000	0.74099	GAG		0.398	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412059.1	NM_001001872		G	58563683	C	G	58563683	3	3	686	1	0	0	0	0	1	0	0	0	1773	680	24	4	492	4	C14orf37	14	58563683	Missense_Mutation	SNP	C	TCGA-IZ-8196-01A-11D-2396-08	37897649	58563683	48785857	70	37959											
SYNE2	23224	hgsc.bcm.edu	37	14	64596614	64596614	+	Missense_Mutation	SNP	T	T	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr14:64596614T>A	ENST00000344113.4	+	75	14346	c.14134T>A	c.(14134-14136)Tta>Ata	p.L4712I	SYNE2_ENST00000555002.1_Missense_Mutation_p.L1346I|SYNE2_ENST00000357395.3_Missense_Mutation_p.L1097I|SYNE2_ENST00000358025.3_Missense_Mutation_p.L4712I|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.L1097I|SYNE2_ENST00000554584.1_Missense_Mutation_p.L4629I	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4712					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)		GGTTTACAAATTAGAGGTATG	0.458																																																0													113	112	112					14																	64596614		2203	4300	6503	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.14134T>A	chr14.hg19:g.64596614T>A	ENSP00000341781:p.Leu4712Ile		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	hg19	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	T	10.90	1.481904	0.26598	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.71934	1.34;1.34;1.34;-0.61;1.34;1.34	5.23	1.55	0.23275	.	0.000000	0.40144	N	0.001175	T	0.76300	0.3968	M	0.72894	2.215	0.80722	D	1	D;D;D	0.69078	0.997;0.987;0.995	D;P;D	0.67231	0.95;0.841;0.926	T	0.70197	-0.4938	10	0.27785	T	0.31	.	5.4414	0.16511	0.0:0.2145:0.1349:0.6506	.	1097;4712;4712	Q8WXH0-7;Q8WXH0;Q8WXH0-2	.;SYNE2_HUMAN;.	I	4712;1097;4712;4629;4629;1346;1097	ENSP00000350719:L4712I;ENSP00000349969:L1097I;ENSP00000341781:L4712I;ENSP00000452570:L4629I;ENSP00000450831:L1346I;ENSP00000378249:L1097I	ENSP00000261678:L4629I	L	+	1	2	SYNE2	63666367	1.000000	0.71417	0.996000	0.52242	0.717000	0.41224	0.934000	0.28910	0.084000	0.17077	-0.274000	0.10170	TTA		0.458	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		A	64596614	T	A	64596614	3	1	686	1	0	0	0	0	1	0	0	0	15451	1490	52	5	14428	5	SYNE2	14	64596614	Missense_Mutation	SNP	T	TCGA-IZ-8196-01A-11D-2396-08	6032931	64596614	42752926	71	37960											
TTC8	123016	hgsc.bcm.edu	37	14	89307438	89307438	+	Missense_Mutation	SNP	T	T	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr14:89307438T>A	ENST00000345383.5	+	4	441	c.357T>A	c.(355-357)agT>agA	p.S119R	TTC8_ENST00000354441.6_Intron|Y_RNA_ENST00000384612.1_RNA|TTC8_ENST00000338104.6_Missense_Mutation_p.S119R|TTC8_ENST00000346301.4_Missense_Mutation_p.S119R|TTC8_ENST00000380656.2_Missense_Mutation_p.S129R|TTC8_ENST00000358622.5_5'Flank|TTC8_ENST00000536576.1_5'UTR	NM_198309.2	NP_938051.1	Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	129					axon guidance (GO:0007411)|camera-type eye photoreceptor cell differentiation (GO:0060219)|cilium assembly (GO:0042384)|establishment of anatomical structure orientation (GO:0048560)|fat cell differentiation (GO:0045444)|multicellular organism growth (GO:0035264)|nonmotile primary cilium assembly (GO:0035058)|olfactory bulb development (GO:0021772)|protein transport (GO:0015031)|regulation of protein localization (GO:0032880)|renal tubule development (GO:0061326)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)	BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						GCACGCAGAGTGGAAGGCCAG	0.498																																																0													67	75	72					14																	89307438		2203	4300	6503	SO:0001583	missense	123016			AK093891	CCDS9885.1, CCDS9886.1, CCDS32137.1, CCDS73674.1, CCDS73675.1	14q31.3	2013-02-14				ENSG00000165533		"Tetratricopeptide (TTC) repeat domain containing"	20087	protein-coding gene	gene with protein product		608132				14520415, 20451172	Standard	NM_144596		Approved	BBS8, RP51	uc001xxi.3	Q8TAM2		ENST00000345383.5:c.357T>A	chr14.hg19:g.89307438T>A	ENSP00000339486:p.Ser119Arg		A6NFG2|B3KWA5|Q67B97|Q86SY0|Q86TV9|Q86U26|Q8NDH9|Q96DG8	Missense_Mutation	SNP	ENST00000345383.5	hg19	CCDS9885.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	17.54|17.54|17.54	3.414274|3.414274|3.414274	0.62511|0.62511|0.62511	.|.|.	.|.|.	ENSG00000165533|ENSG00000165533|ENSG00000165533	ENST00000345383;ENST00000346301;ENST00000338104;ENST00000380656;ENST00000556651|ENST00000554686|ENST00000343648	T;T;T;T|.|.	0.80738|.|.	-1.3;-1.39;-1.41;-1.3|.|.	5.46|5.46|5.46	1.8|1.8|1.8	0.24995|0.24995|0.24995	.|.|.	0.153416|.|.	0.56097|.|.	D|.|.	0.000029|.|.	T|T|T	0.68613|0.68613|0.68613	0.3020|0.3020|0.3020	M|M|M	0.76574|0.76574|0.76574	2.34|2.34|2.34	0.80722|0.80722|0.80722	D|D|D	1|1|1	P;D;B;D;B|.|.	0.54601|.|.	0.808;0.967;0.012;0.967;0.012|.|.	B;P;B;P;B|.|.	0.51918|.|.	0.368;0.595;0.054;0.684;0.054|.|.	T|T|T	0.64045|0.64045|0.64045	-0.6499|-0.6499|-0.6499	10|5|5	0.66056|.|.	D|.|.	0.02|.|.	-16.3432|-16.3432|-16.3432	9.1746|9.1746|9.1746	0.37105|0.37105|0.37105	0.0:0.2088:0.0:0.7912|0.0:0.2088:0.0:0.7912|0.0:0.2088:0.0:0.7912	.|.|.	129;119;129;119;129|.|.	Q8TAM2;G3V2Z9;Q8TAM2-3;G3V324;Q8TAM2-4|.|.	TTC8_HUMAN;.;.;.;.|.|.	R|E|R	119;119;119;129;119|109|171	ENSP00000339486:S119R;ENSP00000298324:S119R;ENSP00000337653:S119R;ENSP00000370031:S129R|.|.	ENSP00000337653:S119R|.|.	S|V|W	+|+|+	3|2|1	2|0|0	TTC8|TTC8|TTC8	88377191|88377191|88377191	0.719000|0.719000|0.719000	0.27986|0.27986|0.27986	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.989000|0.989000|0.989000	0.77384|0.77384|0.77384	-0.225000|-0.225000|-0.225000	0.09151|0.09151|0.09151	0.065000|0.065000|0.065000	0.16485|0.16485|0.16485	0.460000|0.460000|0.460000	0.39030|0.39030|0.39030	AGT|GTG|TGG		0.498	TTC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410861.1	NM_144596		A	89307438	T	A	89307438	3	1	686	1	0	0	0	0	1	0	0	0	16719	1693	59	5	405	5	TTC8	14	89307438	Missense_Mutation	SNP	T	TCGA-IZ-8196-01A-11D-2396-08	24710824	89307438	18042102	72	37961											
CDC42BPB	9578	hgsc.bcm.edu	37	14	103438368	103438368	+	Missense_Mutation	SNP	T	T	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr14:103438368T>A	ENST00000361246.2	-	13	2060	c.1772A>T	c.(1771-1773)aAg>aTg	p.K591M		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)		CACCTTCTGCTTCTGGGCACG	0.617																																																0													112	95	100					14																	103438368		2203	4300	6503	SO:0001583	missense	9578			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.1772A>T	chr14.hg19:g.103438368T>A	ENSP00000355237:p.Lys591Met			Missense_Mutation	SNP	ENST00000361246.2	hg19	CCDS9978.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.560047	0.86335	.	.	ENSG00000198752	ENST00000361246	D	0.82619	-1.63	5.31	4.15	0.48705	.	0.045881	0.85682	D	0.000000	D	0.90456	0.7011	M	0.84948	2.725	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	D	0.90167	0.4232	10	0.56958	D	0.05	.	10.9197	0.47156	0.0:0.0743:0.0:0.9257	.	591	Q9Y5S2	MRCKB_HUMAN	M	591	ENSP00000355237:K591M	ENSP00000355237:K591M	K	-	2	0	CDC42BPB	102508121	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.228000	0.72288	0.860000	0.35481	0.460000	0.39030	AAG		0.617	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035		A	103438368	T	A	103438368	3	1	686	1	0	0	0	0	1	0	0	0	3075	1609	56	5	3463	5	CDC42BPB	14	103438368	Missense_Mutation	SNP	T	TCGA-IZ-8196-01A-11D-2396-08	14130930	103438368	3911172	73	37962											
KIAA0284	283638	hgsc.bcm.edu	37	14	105353612	105353612	+	Missense_Mutation	SNP	T	T	G			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr14:105353612T>G	ENST00000414716.3	+	12	3264	c.3036T>G	c.(3034-3036)caT>caG	p.H1012Q	CEP170B_ENST00000418279.1_Missense_Mutation_p.H942Q|CEP170B_ENST00000556508.1_Missense_Mutation_p.H942Q|CEP170B_ENST00000453495.1_Missense_Mutation_p.H1013Q	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	1012						cytoplasm (GO:0005737)|microtubule (GO:0005874)											AGAGGCAGCATCACCCACTTG	0.687																																																0													11	15	14					14																	105353612		2073	4183	6256	SO:0001583	missense	283638			AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"Cep170-related"		"KIAA0284"	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.3036T>G	chr14.hg19:g.105353612T>G	ENSP00000404151:p.His1012Gln		Q2KHR7|Q86TI7	Missense_Mutation	SNP	ENST00000414716.3	hg19	CCDS45175.1	.	.	.	.	.	.	.	.	.	.	T	4.535	0.099232	0.08681	.	.	ENSG00000099814	ENST00000556508;ENST00000414716;ENST00000453495;ENST00000418279	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	3.85	-6.94	0.01633	.	1.152450	0.06494	N	0.735156	T	0.24736	0.0600	N	0.22421	0.69	0.09310	N	1	B;B;B	0.23735	0.002;0.09;0.01	B;B;B	0.16722	0.008;0.016;0.014	T	0.31971	-0.9924	10	0.59425	D	0.04	-0.1639	8.1321	0.31033	0.0:0.3657:0.4378:0.1965	.	1012;1012;942	Q9Y4F5-2;Q9Y4F5;E9PFC1	.;K0284_HUMAN;.	Q	942;1012;1013;942	ENSP00000451249:H942Q;ENSP00000404151:H1012Q;ENSP00000407238:H1013Q;ENSP00000415006:H942Q	ENSP00000404151:H1012Q	H	+	3	2	KIAA0284	104424657	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-3.141000	0.00586	-1.631000	0.01543	-0.537000	0.04273	CAT		0.687	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2	NM_001112726		G	105353612	T	G	105353612	3	3	686	1	0	0	0	0	1	0	0	0	8168	1432	50	5	3078	5	KIAA0284	14	105353612	Missense_Mutation	SNP	T	TCGA-IZ-8196-01A-11D-2396-08	1915244	105353612	1995928	74	37963											
CATSPER2	117155	hgsc.bcm.edu	37	15	43928412	43928412	+	Missense_Mutation	SNP	A	A	G			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr15:43928412A>G	ENST00000321596.5	-	8	1047	c.848T>C	c.(847-849)cTc>cCc	p.L283P	RNU6-610P_ENST00000384264.1_RNA|CATSPER2_ENST00000396879.1_Missense_Mutation_p.L283P|CATSPER2_ENST00000354127.4_Missense_Mutation_p.L283P|STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000355438.2_Missense_Mutation_p.L283P|CATSPER2_ENST00000381761.1_Missense_Mutation_p.L289P			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	283					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|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)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		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)		GGAATTCGGGAGGTCCCTAAA	0.413																																																0													53	54	53					15																	43928412		2199	4296	6495	SO:0001583	missense	117155			AF411817	CCDS10099.1, CCDS32216.1, CCDS73714.1	15q15.3	2011-07-05			ENSG00000166762	ENSG00000166762		"Voltage-gated ion channels / Cation channels, sperm associated"	18810	protein-coding gene	gene with protein product		607249				11675491, 16382101	Standard	NM_172095		Approved		uc001zsh.3	Q96P56	OTTHUMG00000059902	ENST00000321596.5:c.848T>C	chr15.hg19:g.43928412A>G	ENSP00000321463:p.Leu283Pro		Q8NHT9|Q96P54|Q96P55	Missense_Mutation	SNP	ENST00000321596.5	hg19	CCDS10099.1	.	.	.	.	.	.	.	.	.	.	A	5.296	0.239992	0.10023	.	.	ENSG00000166762	ENST00000396879;ENST00000299989;ENST00000381761;ENST00000321596;ENST00000354127;ENST00000355438	D;D;D;D;D	0.98585	-5.01;-5.01;-5.01;-5.01;-5.01	4.81	4.81	0.61882	Ion transport (1);	0.856615	0.09979	N	0.731205	D	0.97885	0.9305	M	0.82823	2.61	0.33841	D	0.631417	B;B	0.29481	0.206;0.245	B;B	0.35727	0.133;0.209	D	0.99974	1.2121	10	0.87932	D	0	.	10.6643	0.45721	1.0:0.0:0.0:0.0	.	289;283	F8W9H2;Q96P56	.;CTSR2_HUMAN	P	283;283;289;283;283;283	ENSP00000380088:L283P;ENSP00000371180:L289P;ENSP00000321463:L283P;ENSP00000339137:L283P;ENSP00000347613:L283P	ENSP00000299989:L283P	L	-	2	0	CATSPER2	41715704	0.211000	0.23529	0.127000	0.21898	0.013000	0.08279	3.770000	0.55310	2.013000	0.59113	0.533000	0.62120	CTC		0.413	CATSPER2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133151.2	NM_054020		G	43928412	A	G	43928412	3	3	686	1	0	0	0	0	1	0	0	0	2690	304	11	3	768	3	CATSPER2	15	43928412	Missense_Mutation	SNP	A	TCGA-IZ-8196-01A-11D-2396-08		43928412	58602980	75	37964											
NEO1	4756	hgsc.bcm.edu	37	15	73590713	73590713	+	Missense_Mutation	SNP	C	C	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr15:73590713C>T	ENST00000339362.5	+	28	4373	c.3926C>T	c.(3925-3927)aCt>aTt	p.T1309I	NEO1_ENST00000558964.1_Missense_Mutation_p.T1298I|NEO1_ENST00000560262.1_Missense_Mutation_p.T1256I|NEO1_ENST00000261908.6_Missense_Mutation_p.T1309I			Q92859	NEO1_HUMAN	neogenin 1	1309					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						ACCCCCAGCACTGACACCATG	0.483																																																0													81	76	78					15																	73590713		2198	4297	6495	SO:0001583	missense	4756			U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7754	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 2"	601907	"neogenin (chicken) homolog 1"			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.3926C>T	chr15.hg19:g.73590713C>T	ENSP00000341198:p.Thr1309Ile		B7ZKM9|B7ZKN0|O00340|Q17RX1	Missense_Mutation	SNP	ENST00000339362.5	hg19	CCDS10247.1	.	.	.	.	.	.	.	.	.	.	C	19.96	3.924141	0.73213	.	.	ENSG00000067141	ENST00000339362;ENST00000379842;ENST00000261908	T	0.42900	0.96	5.28	5.28	0.74379	Neogenin, C-terminal (1);	0.294982	0.37857	N	0.001913	T	0.32704	0.0838	N	0.14661	0.345	0.41912	D	0.990476	B;B;B;P	0.37594	0.408;0.408;0.372;0.601	B;B;B;B	0.42959	0.304;0.324;0.295;0.403	T	0.16247	-1.0409	10	0.36615	T	0.2	-15.6613	14.1931	0.65652	0.0:0.8505:0.1495:0.0	.	1256;1298;1020;1309	B7ZKM9;B7ZKN0;E7EUX3;Q92859	.;.;.;NEO1_HUMAN	I	1256;1020;1309	ENSP00000261908:T1309I	ENSP00000261908:T1309I	T	+	2	0	NEO1	71377766	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.492000	0.66893	2.479000	0.83701	0.655000	0.94253	ACT		0.483	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	NM_002499		T	73590713	C	T	73590713	3	4	686	1	0	0	0	0	1	0	0	0	10338	565	20	2	4032	2	NEO1	15	73590713	Missense_Mutation	SNP	C	TCGA-IZ-8196-01A-11D-2396-08	29662301	73590713	28940679	76	37965											
IREB2	3658	hgsc.bcm.edu	37	15	78755356	78755356	+	Missense_Mutation	SNP	T	T	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr15:78755356T>A	ENST00000258886.8	+	3	348	c.199T>A	c.(199-201)Tta>Ata	p.L67I	IREB2_ENST00000560440.1_Missense_Mutation_p.L67I	NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	67					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)		TATGAACATTTTAGACTGGAA	0.378																																					NSCLC(200;764 2208 35157 49871 50830)											0													214	201	205					15																	78755356		2196	4293	6489	SO:0001583	missense	3658			M58511	CCDS10302.1	15q25.1	2013-09-20			ENSG00000136381	ENSG00000136381			6115	protein-coding gene	gene with protein product		147582				2172968	Standard	NM_004136		Approved	IRP2	uc002bdr.2	P48200	OTTHUMG00000143861	ENST00000258886.8:c.199T>A	chr15.hg19:g.78755356T>A	ENSP00000258886:p.Leu67Ile		A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17	Missense_Mutation	SNP	ENST00000258886.8	hg19	CCDS10302.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.018887	0.75275	.	.	ENSG00000136381	ENST00000258886	T	0.44881	0.91	5.87	3.57	0.40892	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	T	0.53254	0.1785	L	0.52573	1.65	0.51482	D	0.999929	D;P	0.69078	0.997;0.577	D;P	0.91635	0.999;0.774	T	0.42616	-0.9441	10	0.23891	T	0.37	.	10.2319	0.43260	0.0:0.1334:0.0:0.8666	.	67;67	P48200;Q8WVK6	IREB2_HUMAN;.	I	67	ENSP00000258886:L67I	ENSP00000258886:L67I	L	+	1	2	IREB2	76542411	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.725000	0.25970	0.574000	0.29417	0.533000	0.62120	TTA		0.378	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290109.3	NM_004136		A	78755356	T	A	78755356	3	1	686	1	0	0	0	0	1	0	0	0	7828	1838	64	5	209	5	IREB2	15	78755356	Missense_Mutation	SNP	T	TCGA-IZ-8196-01A-11D-2396-08	5164643	78755356	23776036	77	37966											
KIAA1199	57214	hgsc.bcm.edu	37	15	81166242	81166242	+	Missense_Mutation	SNP	G	G	C			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr15:81166242G>C	ENST00000394685.3	+	3	441	c.22G>C	c.(22-24)Gac>Cac	p.D8H	KIAA1199_ENST00000356249.5_Missense_Mutation_p.D8H|KIAA1199_ENST00000220244.3_Missense_Mutation_p.D8H			Q8WUJ3	CEMIP_HUMAN		8					hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605)	clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)	p.D8N(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TGGGAGGCAGGACTTCCTCTT	0.577																																																1	Substitution - Missense(1)	kidney(1)											70	54	60					15																	81166242		2202	4298	6500	SO:0001583	missense	57214																														ENST00000394685.3:c.22G>C	chr15.hg19:g.81166242G>C	ENSP00000378177:p.Asp8His		Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Missense_Mutation	SNP	ENST00000394685.3	hg19	CCDS10315.1	.	.	.	.	.	.	.	.	.	.	G	8.342	0.828847	0.16749	.	.	ENSG00000103888	ENST00000220244;ENST00000394685;ENST00000356249;ENST00000394683	T;T;T	0.66460	-0.21;-0.21;-0.21	4.92	-2.97	0.05530	.	6.948940	0.00166	N	0.000000	T	0.48537	0.1505	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.17806	-1.0357	10	0.14656	T	0.56	-8.0685	5.165	0.15081	0.3585:0.2796:0.3619:0.0	.	8	Q8WUJ3	K1199_HUMAN	H	8	ENSP00000220244:D8H;ENSP00000378177:D8H;ENSP00000348583:D8H	ENSP00000220244:D8H	D	+	1	0	KIAA1199	78953297	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.356000	0.02609	-0.329000	0.08527	-0.165000	0.13383	GAC		0.577	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291389.1			C	81166242	G	C	81166242	3	2	686	1	0	0	0	0	1	0	0	0	8215	1174	41	4	24	4	KIAA1199	15	81166242	Missense_Mutation	SNP	G	TCGA-IZ-8196-01A-11D-2396-08	2410886	81166242	21365150	78	37967											
SRCAP	10847	hgsc.bcm.edu	37	16	30733503	30733503	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr16:30733503delC	ENST00000262518.4	+	22	3987	c.3602delC	c.(3601-3603)gcafs	p.A1201fs	SRCAP_ENST00000344771.4_Frame_Shift_Del_p.A1105fs|SRCAP_ENST00000395059.2_Frame_Shift_Del_p.A1201fs	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1201	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)			GTGGCTAATGCAGGGGGAAGC	0.577																																																0													128	106	113					16																	30733503		2197	4300	6497	SO:0001589	frameshift_variant	10847			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.3602delC	chr16.hg19:g.30733503delC	ENSP00000262518:p.Ala1201fs		B0JZA6|O15026|Q7Z744|Q9Y5L9	Frame_Shift_Del	DEL	ENST00000262518.4	hg19	CCDS10689.2																																																																																				0.577	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		-	30733503	C	-	30733503	7	5	686	1	0	1	0	1	0	0	0	0	15140	710	25	0	3680	0	SRCAP	16	30733503	Frame_Shift_Del	DEL	C	TCGA-IZ-8196-01A-11D-2396-08		30733503	59621250	79	37968	291	2									
SRCAP	10847	hgsc.bcm.edu	37	16	30733505	30733505	+	Missense_Mutation	SNP	G	G	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr16:30733505G>A	ENST00000262518.4	+	22	3989	c.3604G>A	c.(3604-3606)Ggg>Agg	p.G1202R	SRCAP_ENST00000344771.4_Missense_Mutation_p.G1106R|SRCAP_ENST00000395059.2_Missense_Mutation_p.G1202R	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1202	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)			GGCTAATGCAGGGGGAAGCAA	0.572																																																0													129	107	114					16																	30733505		2197	4300	6497	SO:0001583	missense	10847			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.3604G>A	chr16.hg19:g.30733505G>A	ENSP00000262518:p.Gly1202Arg		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	hg19	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	G	15.91	2.973443	0.53614	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.90900	-2.71;-2.68;-2.75	4.68	4.68	0.58851	.	0.000000	0.49305	D	0.000153	D	0.85961	0.5819	N	0.14661	0.345	0.20821	N	0.999846	P;D;P	0.53462	0.859;0.96;0.933	P;P;P	0.51229	0.572;0.663;0.462	T	0.78420	-0.2211	10	0.31617	T	0.26	-8.9406	12.9347	0.58307	0.0:0.1644:0.8356:0.0	.	1106;1202;1202	Q6ZRS2-3;Q6ZRS2-2;Q6ZRS2	.;.;SRCAP_HUMAN	R	1202;1202;1106	ENSP00000262518:G1202R;ENSP00000378499:G1202R;ENSP00000343042:G1106R	ENSP00000262518:G1202R	G	+	1	0	SRCAP	30641006	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.941000	0.49011	2.414000	0.81942	0.462000	0.41574	GGG		0.572	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		A	30733505	G	A	30733505	3	1	686	1	0	0	0	0	1	0	0	0	15140	1000	35	2	3682	2	SRCAP	16	30733505	Missense_Mutation	SNP	G	TCGA-IZ-8196-01A-11D-2396-08	2	30733505	59621248	80	37969	291	2									
CDH8	1006	hgsc.bcm.edu	37	16	61851550	61851550	+	Silent	SNP	C	C	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr16:61851550C>T	ENST00000577390.1	-	7	2064	c.1110G>A	c.(1108-1110)ggG>ggA	p.G370G	CDH8_ENST00000577730.1_Silent_p.G370G|CDH8_ENST00000584337.1_Silent_p.G370G|CDH8_ENST00000299345.6_Silent_p.G370G	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	370	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|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)		CTTTAAAGGGCCCCCTGCCAC	0.468																																																0													86	68	74					16																	61851550		2203	4300	6503	SO:0001819	synonymous_variant	1006			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.1110G>A	chr16.hg19:g.61851550C>T			B3KWC1|Q14DC6|Q9ULB2	Silent	SNP	ENST00000577390.1	hg19	CCDS10802.1																																																																																				0.468	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		T	61851550	C	T	61851550	2	4	686	1	0	0	0	0	0	0	0	1	3118	726	26	2		2	CDH8	16	61851550	Silent	SNP	C	TCGA-IZ-8196-01A-11D-2396-08	31118045	61851550	28503203	81	37970											
CDT1	81620	hgsc.bcm.edu	37	16	88872437	88872437	+	Missense_Mutation	SNP	G	G	A	rs368718178		TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr16:88872437G>A	ENST00000301019.4	+	6	1460	c.841G>A	c.(841-843)Gga>Aga	p.G281R		NM_030928.3	NP_112190.2			chromatin licensing and DNA replication factor 1											central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(80;0.0476)		AGAGGCTGACGGAGCAGCCCC	0.672																																					Melanoma(159;511 3380 30971)											0								G	ARG/GLY	1,4361		0,1,2180	15	17	16		841	-3.5	0	16		16	0,8566		0,0,4283	no	missense	CDT1	NM_030928.3	125	0,1,6463	AA,AG,GG		0.0,0.0229,0.0077	possibly-damaging	281/547	88872437	1,12927	2181	4283	6464	SO:0001583	missense	81620			AF070552	CCDS32510.1	16q24.3	2014-08-12			ENSG00000167513	ENSG00000167513			24576	protein-coding gene	gene with protein product		605525				11896191, 11555648	Standard	NM_030928		Approved	DUP, RIS2	uc002flu.3	Q9H211	OTTHUMG00000173467	ENST00000301019.4:c.841G>A	chr16.hg19:g.88872437G>A	ENSP00000301019:p.Gly281Arg			Missense_Mutation	SNP	ENST00000301019.4	hg19	CCDS32510.1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.253471	0.39797	2.29E-4	0.0	ENSG00000167513	ENST00000301019	T	0.23552	1.9	4.83	-3.49	0.04724	.	1.014200	0.07884	N	0.970068	T	0.13030	0.0316	L	0.35487	1.065	0.30312	N	0.788448	P	0.51351	0.944	B	0.38458	0.274	T	0.37033	-0.9723	10	0.20046	T	0.44	.	4.4942	0.11828	0.0996:0.2944:0.5056:0.1004	.	281	Q9H211	CDT1_HUMAN	R	281	ENSP00000301019:G281R	ENSP00000301019:G281R	G	+	1	0	CDT1	87399938	0.003000	0.15002	0.000000	0.03702	0.004000	0.04260	0.790000	0.26900	-0.552000	0.06167	0.462000	0.41574	GGA		0.672	CDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000423215.1	NM_030928		A	88872437	G	A	88872437	3	1	686	1	0	0	0	0	1	0	0	0	3182	1117	39	1	863	1	CDT1	16	88872437	Missense_Mutation	SNP	G	TCGA-IZ-8196-01A-11D-2396-08	27020887	88872437	1482316	82	37971											
MAP2K4	6416	hgsc.bcm.edu	37	17	12016635	12016635	+	Silent	SNP	T	T	C			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr17:12016635T>C	ENST00000353533.5	+	7	834	c.771T>C	c.(769-771)tcT>tcC	p.S257S	MAP2K4_ENST00000581941.1_3'UTR|MAP2K4_ENST00000415385.3_Silent_p.S268S	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	257	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		TTGTGGACTCTATTGCCAAGA	0.453			"D, Mis, N"		"pancreatic, breast, colorectal"																																		Rec	yes		17	17p11.2	6416	mitogen-activated protein kinase kinase 4		E	11	Whole gene deletion(10)|Unknown(1)	ovary(4)|breast(4)|biliary_tract(1)|large_intestine(1)|pancreas(1)											105	101	102					17																	12016635		2203	4300	6503	SO:0001819	synonymous_variant	6416			L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"Mitogen-activated protein kinase cascade / Kinase kinases"	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.771T>C	chr17.hg19:g.12016635T>C			B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Silent	SNP	ENST00000353533.5	hg19	CCDS11162.1																																																																																				0.453	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441226.1			C	12016635	T	C	12016635	2	2	686	1	0	0	0	0	0	0	0	1	9241	1509	53	3		3	MAP2K4	17	12016635	Silent	SNP	T	TCGA-IZ-8196-01A-11D-2396-08		12016635	69178575	83	37972											
NAGLU	4669	hgsc.bcm.edu	37	17	40695935	40695935	+	Silent	SNP	C	C	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr17:40695935C>T	ENST00000225927.2	+	6	2012	c.1911C>T	c.(1909-1911)ttC>ttT	p.F637F	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	637					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)	AGGCCGATTTCTACGAGCAGA	0.627																																																0													25	21	22					17																	40695935		2202	4295	6497	SO:0001819	synonymous_variant	4669				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.1911C>T	chr17.hg19:g.40695935C>T				Silent	SNP	ENST00000225927.2	hg19	CCDS11427.1																																																																																				0.627	NAGLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450385.1	NM_000263		T	40695935	C	T	40695935	2	4	686	1	0	0	0	0	0	0	0	1	10145	912	32	2		2	NAGLU	17	40695935	Silent	SNP	C	TCGA-IZ-8196-01A-11D-2396-08	28679300	40695935	40499275	84	37973											
LSM12	124801	hgsc.bcm.edu	37	17	42117589	42117589	+	Silent	SNP	C	C	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr17:42117589C>T	ENST00000591247.1	-	4	616	c.294G>A	c.(292-294)aaG>aaA	p.K98K	LSM12_ENST00000293406.3_Silent_p.K98K|LSM12_ENST00000585388.1_Silent_p.K98K	NM_152344.3	NP_689557.1	Q3MHD2	LSM12_HUMAN	LSM12 homolog (S. cerevisiae)	98										NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	6		Breast(137;0.0313)|Prostate(33;0.0861)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CCTGGCTCAGCTTCTCCTCCT	0.517																																																0													99	72	81					17																	42117589		2203	4300	6503	SO:0001819	synonymous_variant	124801			BC044587	CCDS11475.1	17q21.31	2007-08-21				ENSG00000161654			26407	protein-coding gene	gene with protein product		611793				15225602	Standard	NM_152344		Approved	FLJ30656	uc002iev.3	Q3MHD2		ENST00000591247.1:c.294G>A	chr17.hg19:g.42117589C>T			Q86YB1|Q96NL5	Silent	SNP	ENST00000591247.1	hg19	CCDS11475.1																																																																																				0.517	LSM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457672.1	NM_152344		T	42117589	C	T	42117589	2	4	686	1	0	0	0	0	0	0	0	1	9055	796	28	2		2	LSM12	17	42117589	Silent	SNP	C	TCGA-IZ-8196-01A-11D-2396-08	1421654	42117589	39077621	85	37974											
AMH	268	hgsc.bcm.edu	37	19	2249551	2249551	+	Missense_Mutation	SNP	G	G	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr19:2249551G>T	ENST00000221496.4	+	1	242	c.220G>T	c.(220-222)Ggg>Tgg	p.G74W	MIR4321_ENST00000592276.1_RNA	NM_000479.3	NP_000470	P03971	MIS_HUMAN	anti-Mullerian hormone	74					aging (GO:0007568)|cell-cell signaling (GO:0007267)|gonadal mesoderm development (GO:0007506)|Mullerian duct regression (GO:0001880)|positive regulation of gene expression (GO:0010628)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|preantral ovarian follicle growth (GO:0001546)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|sex determination (GO:0007530)|sex differentiation (GO:0007548)|urogenital system development (GO:0001655)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)|receptor binding (GO:0005102)			lung(2)	2		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)		GCGGGTGGTGGGGGCTCTAAG	0.692									Persistant Mullerian Duct Syndrome (type I and II)																																							0													8	11	10					19																	2249551		2163	4282	6445	SO:0001583	missense	268	Familial Cancer Database	PMDS, Persistent Oviduct Syndrome	K03474	CCDS12085.1	19p13.3	2014-01-30				ENSG00000104899		"Endogenous ligands"	464	protein-coding gene	gene with protein product		600957				3754790, 18784351	Standard	NM_000479		Approved	MIS	uc002lvh.2	P03971		ENST00000221496.4:c.220G>T	chr19.hg19:g.2249551G>T	ENSP00000221496:p.Gly74Trp		O75246|Q6GTN3	Missense_Mutation	SNP	ENST00000221496.4	hg19	CCDS12085.1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.527815	0.27299	.	.	ENSG00000104899	ENST00000221496	D	0.94687	-3.49	3.75	3.75	0.43078	.	0.168909	0.38548	U	0.001642	D	0.95010	0.8385	L	0.34521	1.04	0.44555	D	0.997518	D	0.89917	1.0	D	0.91635	0.999	D	0.95614	0.8675	10	0.87932	D	0	-23.8931	14.1364	0.65291	0.0:0.0:1.0:0.0	.	74	P03971	MIS_HUMAN	W	74	ENSP00000221496:G74W	ENSP00000221496:G74W	G	+	1	0	AMH	2200551	1.000000	0.71417	0.103000	0.21229	0.001000	0.01503	5.367000	0.66127	1.657000	0.50732	0.462000	0.41574	GGG		0.692	AMH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451276.3	NM_000479		T	2249551	G	T	2249551	3	4	686	1	0	0	0	0	1	0	0	0	572	1232	43	4	222	4	AMH	19	2249551	Missense_Mutation	SNP	G	TCGA-IZ-8196-01A-11D-2396-08		2249551	56879432	86	37975											
CLEC4M	10332	hgsc.bcm.edu	37	19	7832420	7832420	+	Missense_Mutation	SNP	A	A	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr19:7832420A>T	ENST00000327325.5	+	6	1073	c.955A>T	c.(955-957)Act>Tct	p.T319S	CLEC4M_ENST00000359059.5_Missense_Mutation_p.T252S|CLEC4M_ENST00000248228.4_Missense_Mutation_p.T297S|CLEC4M_ENST00000595496.1_Missense_Mutation_p.T183S|CLEC4M_ENST00000596707.1_Missense_Mutation_p.T252S|CLEC4M_ENST00000596363.1_Intron|CLEC4M_ENST00000394122.2_Missense_Mutation_p.T307S|CLEC4M_ENST00000334806.5_Missense_Mutation_p.T268S|CLEC4M_ENST00000597522.1_Intron|CLEC4M_ENST00000357361.2_Intron	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	319	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|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 blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|ICAM-3 receptor activity (GO:0030369)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|receptor activity (GO:0004872)|virion binding (GO:0046790)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						ACAGCTGCAGACTTCCAGGAG	0.552																																																0													102	89	94					19																	7832420		2203	4300	6503	SO:0001583	missense	10332			AB015629	CCDS12187.1, CCDS59346.1, CCDS59347.1, CCDS59348.1	19p13	2008-02-05	2005-02-04	2005-02-11		ENSG00000104938		"C-type lectin domain containing", "CD molecules"	13523	protein-coding gene	gene with protein product		605872	"CD299 antigen"	CD209L, CD299		10072769	Standard	NM_001144904		Approved	HP10347, DC-SIGNR, LSIGN, DCSIGNR, DC-SIGN2	uc010dvt.3	Q9H2X3		ENST00000327325.5:c.955A>T	chr19.hg19:g.7832420A>T	ENSP00000316228:p.Thr319Ser		A6NKI4|A8K8B3|Q69F40|Q969M4|Q96QP3|Q96QP4|Q96QP5|Q96QP6|Q9BXS3|Q9H2Q9|Q9H8F0|Q9Y2A8	Missense_Mutation	SNP	ENST00000327325.5	hg19	CCDS12187.1	.	.	.	.	.	.	.	.	.	.	A	0.007	-1.947181	0.00475	.	.	ENSG00000104938	ENST00000327325;ENST00000394122;ENST00000248228;ENST00000334806;ENST00000359059	T;T;T;T;T	0.16897	2.31;2.31;2.31;2.31;2.31	2.42	-4.84	0.03151	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.	.	.	.	T	0.08044	0.0201	N	0.25426	0.745	0.09310	N	0.999998	B;B;B;B;B;B	0.09022	0.002;0.0;0.001;0.0;0.001;0.001	B;B;B;B;B;B	0.13407	0.007;0.0;0.004;0.007;0.002;0.009	T	0.38735	-0.9647	9	0.13108	T	0.6	.	3.4919	0.07641	0.3644:0.0:0.3242:0.3114	.	268;252;319;307;296;183	B4E2Z5;Q9H2X3-5;Q9H2X3;E7ENS9;Q9H2X3-8;Q9H2X3-7	.;.;CLC4M_HUMAN;.;.;.	S	319;307;297;268;252	ENSP00000316228:T319S;ENSP00000377680:T307S;ENSP00000248228:T297S;ENSP00000335228:T268S;ENSP00000351954:T252S	ENSP00000248228:T297S	T	+	1	0	CLEC4M	7738420	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.311000	0.08124	-2.225000	0.00724	-2.665000	0.00146	ACT		0.552	CLEC4M-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461161.1	NM_014257		T	7832420	A	T	7832420	3	4	686	1	0	0	0	0	1	0	0	0	3520	275	10	5	998	5	CLEC4M	19	7832420	Missense_Mutation	SNP	A	TCGA-IZ-8196-01A-11D-2396-08	5582869	7832420	51296563	87	37976											
CD97	976	hgsc.bcm.edu	37	19	14518917	14518918	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr19:14518917_14518918insA	ENST00000242786.5	+	20	2572_2573	c.2492_2493insA	c.(2491-2496)tcagagfs	p.E832fs	CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000357355.3_Frame_Shift_Ins_p.E783fs|DDX39A_ENST00000592927.1_5'Flank|CD97_ENST00000358600.3_Frame_Shift_Ins_p.E739fs	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	832					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						CTCAGGGCATCAGAGTCCGGCA	0.663																																																0																																										SO:0001589	frameshift_variant	976				CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"CD molecules", "-", "GPCR / Class B : Orphans"	1711	protein-coding gene	gene with protein product	"leukocyte antigen CD97", "seven-span transmembrane protein", "seven-transmembrane, heterodimeric receptor associated with inflammation", "seven transmembrane helix receptor"	601211	"CD97 antigen"			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.2493dupA	chr19.hg19:g.14518918_14518918dupA	ENSP00000242786:p.Glu832fs		A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Frame_Shift_Ins	INS	ENST00000242786.5	hg19	CCDS32929.1																																																																																				0.663	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459821.2	NM_078481		A	14518918	-	A	14518917	7	5	686	1	0	1	1	0	0	0	0	0	3051	838	29	0	2570	0	CD97	19	14518917	Frame_Shift_Ins	INS	-	TCGA-IZ-8196-01A-11D-2396-08	6686497	14518917	44610066	88	37977											
SNPH	9751	hgsc.bcm.edu	37	20	1286555	1286555	+	Missense_Mutation	SNP	C	C	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr20:1286555C>T	ENST00000381873.3	+	6	1578	c.1342C>T	c.(1342-1344)Cgg>Tgg	p.R448W	SNPH_ENST00000381867.1_Missense_Mutation_p.R492W	NM_014723.2	NP_055538.2	O15079	SNPH_HUMAN	syntaphilin	448					brain development (GO:0007420)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|synaptic vesicle docking involved in exocytosis (GO:0016081)	cell junction (GO:0030054)|cytoplasmic microtubule (GO:0005881)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)	syntaxin-1 binding (GO:0017075)			endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CCGCTCCCAGCGGCGCCAGGG	0.672																																																0													16	10	12					20																	1286555		2131	4210	6341	SO:0001583	missense	9751				CCDS13012.1	20p13	2008-07-02			ENSG00000101298	ENSG00000101298			15931	protein-coding gene	gene with protein product		604942				10707983	Standard	NM_014723		Approved	bA314N13.5	uc002wes.3	O15079	OTTHUMG00000031662	ENST00000381873.3:c.1342C>T	chr20.hg19:g.1286555C>T	ENSP00000371297:p.Arg448Trp		Q8IYI3	Missense_Mutation	SNP	ENST00000381873.3	hg19	CCDS13012.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.712880	0.48517	.	.	ENSG00000101298	ENST00000381873;ENST00000381867	.	.	.	4.24	1.16	0.20824	.	0.431073	0.21513	N	0.073349	T	0.59729	0.2215	M	0.62723	1.935	0.31113	N	0.709748	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	T	0.61088	-0.7133	9	0.87932	D	0	-28.0671	7.7271	0.28765	0.5262:0.3946:0.0:0.0791	.	492;448	O15079-2;O15079	.;SNPH_HUMAN	W	448;492	.	ENSP00000371291:R492W	R	+	1	2	SNPH	1234555	0.992000	0.36948	0.981000	0.43875	0.898000	0.52572	0.375000	0.20518	0.083000	0.17047	-0.268000	0.10319	CGG		0.672	SNPH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145240.2	NM_014723		T	1286555	C	T	1286555	3	4	686	1	0	0	0	0	1	0	0	0	14856	759	27	1	1356	1	SNPH	20	1286555	Missense_Mutation	SNP	C	TCGA-IZ-8196-01A-11D-2396-08		1286555	61738965	89	37978											
BRWD1	54014	hgsc.bcm.edu	37	21	40641908	40641908	+	Missense_Mutation	SNP	T	T	A	rs540249994		TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr21:40641908T>A	ENST00000333229.2	-	15	1774	c.1447A>T	c.(1447-1449)Att>Ttt	p.I483F	BRWD1_ENST00000342449.3_Missense_Mutation_p.I483F|BRWD1_ENST00000380800.3_Missense_Mutation_p.I483F	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	483					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)				GATAACATAATTCTGGAATCA	0.333																																					Melanoma(170;988 1986 4794 16843 39731)											0													105	99	101					21																	40641908		2203	4300	6503	SO:0001583	missense	54014			AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"WD repeat domain containing"	12760	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 107", "WD repeat domain 9"	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.1447A>T	chr21.hg19:g.40641908T>A	ENSP00000330753:p.Ile483Phe		C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	hg19	CCDS13662.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.9|25.9	4.681151|4.681151	0.88542|0.88542	.|.	.|.	ENSG00000185658|ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800|ENST00000455867	T;T;T|.	0.59224|.	0.28;0.28;0.28|.	5.57|5.57	5.57|5.57	0.84162|0.84162	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.080378|.	0.53938|.	D|.	0.000059|.	T|T	0.45337|0.45337	0.1337|0.1337	L|L	0.27944|0.27944	0.81|0.81	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.999;0.999;1.0|.	D;D;D|.	0.91635|.	0.996;0.999;0.99|.	T|T	0.38200|0.38200	-0.9672|-0.9672	10|5	0.87932|.	D|.	0|.	-10.9067|-10.9067	10.1398|10.1398	0.42728|0.42728	0.0:0.0743:0.0:0.9257|0.0:0.0743:0.0:0.9257	.|.	194;483;483|.	Q5R2U6;Q9NSI6-2;Q9NSI6|.	.;.;BRWD1_HUMAN|.	F|I	483|194	ENSP00000330753:I483F;ENSP00000344333:I483F;ENSP00000370178:I483F|.	ENSP00000330753:I483F|.	I|N	-|-	1|2	0|0	BRWD1|BRWD1	39563778|39563778	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	3.879000|3.879000	0.56138|0.56138	2.130000|2.130000	0.65690|0.65690	0.455000|0.455000	0.32223|0.32223	ATT|AAT		0.333	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		A	40641908	T	A	40641908	3	1	686	1	0	0	0	0	1	0	0	0	1527	1493	52	5	5866	5	BRWD1	21	40641908	Missense_Mutation	SNP	T	TCGA-IZ-8196-01A-11D-2396-08		40641908	7487987	90	37979											
PDE9A	5152	hgsc.bcm.edu	37	21	44152003	44152003	+	Missense_Mutation	SNP	A	A	G			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr21:44152003A>G	ENST00000291539.6	+	5	446	c.386A>G	c.(385-387)gAg>gGg	p.E129G	PDE9A_ENST00000398236.3_Intron|PDE9A_ENST00000335440.6_Intron|PDE9A_ENST00000335512.4_Intron|PDE9A_ENST00000380328.2_Intron|PDE9A_ENST00000349112.3_Intron|PDE9A_ENST00000398225.3_Missense_Mutation_p.E88G|PDE9A_ENST00000470987.1_Intron|PDE9A_ENST00000398232.3_Missense_Mutation_p.E62G|AP001627.1_ENST00000437426.1_RNA|PDE9A_ENST00000539837.1_Intron|PDE9A_ENST00000398227.3_Intron|PDE9A_ENST00000328862.6_Missense_Mutation_p.E103G|PDE9A_ENST00000398224.3_Intron|PDE9A_ENST00000398234.3_Intron|PDE9A_ENST00000398229.3_Intron	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	129					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)	GGACAGGTAGAGCCCAGGCCC	0.652																																																0													56	59	58					21																	44152003		2203	4300	6503	SO:0001583	missense	5152			AF048837	CCDS13690.1, CCDS33567.1, CCDS33568.1, CCDS33569.1, CCDS33570.1, CCDS33571.1, CCDS42941.1, CCDS42942.1, CCDS42943.1, CCDS42944.1, CCDS42945.1, CCDS42946.1, CCDS42947.1	21q22.3	2005-11-29			ENSG00000160191	ENSG00000160191	3.1.4.17	"Phosphodiesterases"	8795	protein-coding gene	gene with protein product		602973				9624146	Standard	NM_001001584		Approved		uc002zbm.3	O76083	OTTHUMG00000086825	ENST00000291539.6:c.386A>G	chr21.hg19:g.44152003A>G	ENSP00000291539:p.Glu129Gly		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	hg19	CCDS13690.1	.	.	.	.	.	.	.	.	.	.	A	5.981	0.364909	0.11296	.	.	ENSG00000160191	ENST00000291539;ENST00000398232;ENST00000328862;ENST00000398225	T;T;T;T	0.69435	-0.37;-0.4;-0.39;-0.38	2.62	-5.23	0.02798	.	2.493450	0.01301	N	0.010305	T	0.41026	0.1141	N	0.08118	0	0.09310	N	1	B;B;B;B	0.19706	0.038;0.003;0.003;0.002	B;B;B;B	0.19391	0.025;0.001;0.001;0.0	T	0.17930	-1.0353	10	0.49607	T	0.09	.	0.789	0.01054	0.4523:0.1816:0.1307:0.2354	.	62;103;88;129	O76083-13;O76083-15;O76083-14;O76083	.;.;.;PDE9A_HUMAN	G	129;62;103;88	ENSP00000291539:E129G;ENSP00000381287:E62G;ENSP00000328699:E103G;ENSP00000381281:E88G	ENSP00000291539:E129G	E	+	2	0	PDE9A	43025072	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.271000	0.18626	-2.215000	0.00733	0.383000	0.25322	GAG		0.652	PDE9A-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195466.1			G	44152003	A	G	44152003	3	3	686	1	0	0	0	0	1	0	0	0	11657	304	11	3	484	3	PDE9A	21	44152003	Missense_Mutation	SNP	A	TCGA-IZ-8196-01A-11D-2396-08	3510095	44152003	3977892	91	37980											
CYTSA	23384	hgsc.bcm.edu	37	22	24734414	24734414	+	Missense_Mutation	SNP	C	C	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr22:24734414C>T	ENST00000314328.9	+	10	2906	c.2621C>T	c.(2620-2622)aCc>aTc	p.T874I	SPECC1L_ENST00000437398.1_Missense_Mutation_p.T874I|SPECC1L-ADORA2A_ENST00000358654.2_Missense_Mutation_p.T874I|SPECC1L_ENST00000541492.1_Missense_Mutation_p.T874I	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	874					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						CCTATGAAAACCCCTCCTGCA	0.498																																																0													162	158	160					22																	24734414		2203	4300	6503	SO:0001583	missense	23384			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.2621C>T	chr22.hg19:g.24734414C>T	ENSP00000325785:p.Thr874Ile		B7Z758|F5H1H6|O15081	Missense_Mutation	SNP	ENST00000314328.9	hg19	CCDS33619.1	.	.	.	.	.	.	.	.	.	.	c	29.1	4.976045	0.92982	.	.	ENSG00000100014	ENST00000398280;ENST00000437398;ENST00000314328;ENST00000541492	T;T;T	0.53640	0.61;0.61;0.61	5.69	5.69	0.88448	.	0.050156	0.85682	D	0.000000	T	0.69124	0.3076	M	0.68593	2.085	0.80722	D	1	D;P	0.89917	1.0;0.906	D;P	0.91635	0.999;0.521	T	0.69614	-0.5098	10	0.72032	D	0.01	-23.2113	19.1962	0.93690	0.0:1.0:0.0:0.0	.	874;874	F5H1H6;Q69YQ0	.;CYTSA_HUMAN	I	902;874;874;874	ENSP00000393363:T874I;ENSP00000325785:T874I;ENSP00000439633:T874I	ENSP00000325785:T874I	T	+	2	0	SPECC1L	23064414	1.000000	0.71417	0.982000	0.44146	0.996000	0.88848	5.103000	0.64578	2.865000	0.98341	0.655000	0.94253	ACC		0.498	SPECC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319986.2	NM_015330		T	24734414	C	T	24734414	3	4	686	1	0	0	0	0	1	0	0	0	4211	507	18	2	2651	2	CYTSA	22	24734414	Missense_Mutation	SNP	C	TCGA-IZ-8196-01A-11D-2396-08		24734414	26570152	92	37981											
GGT1	2678	hgsc.bcm.edu	37	22	25023938	25023938	+	Missense_Mutation	SNP	T	T	C			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr22:25023938T>C	ENST00000400382.1	+	13	2083	c.1328T>C	c.(1327-1329)aTc>aCc	p.I443T	GGT1_ENST00000403838.1_Missense_Mutation_p.I99T|GGT1_ENST00000401885.1_Missense_Mutation_p.I99T|GGT1_ENST00000406383.2_Missense_Mutation_p.I443T|GGT1_ENST00000404920.1_Missense_Mutation_p.I99T|GGT1_ENST00000466310.1_3'UTR|GGT1_ENST00000400380.1_Missense_Mutation_p.I443T|GGT1_ENST00000400383.1_Missense_Mutation_p.I443T|GGT1_ENST00000248923.4_Missense_Mutation_p.I443T|GGT1_ENST00000404532.1_Missense_Mutation_p.I99T|GGT1_ENST00000404223.1_Missense_Mutation_p.I99T			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	443					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)	GCCAATTTCATCCAGCCAGGT	0.617																																																0													42	50	47					22																	25023938		2202	4297	6499	SO:0001583	missense	2678			M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"CD molecules", "Gamma-glutamyltransferases"	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000400382.1:c.1328T>C	chr22.hg19:g.25023938T>C	ENSP00000383232:p.Ile443Thr		Q08247|Q14404|Q8TBS1|Q9UMK1	Missense_Mutation	SNP	ENST00000400382.1	hg19	CCDS42992.1	.	.	.	.	.	.	.	.	.	.	.	13.53	2.265969	0.40095	.	.	ENSG00000100031	ENST00000248923;ENST00000412658;ENST00000400382;ENST00000400383;ENST00000400380;ENST00000406383;ENST00000401885;ENST00000404532;ENST00000403838;ENST00000404223;ENST00000404920	T;T;T;T;T;T;T;T;T;T;T	0.09073	3.02;3.02;3.02;3.02;3.02;3.02;3.02;3.02;3.02;3.02;3.02	3.49	3.49	0.39957	.	0.000000	0.85682	D	0.000000	T	0.42086	0.1187	H	0.98256	4.185	0.46901	D	0.999246	D	0.89917	1.0	D	0.79784	0.993	T	0.61232	-0.7104	10	0.87932	D	0	-34.9439	11.6793	0.51448	0.0:0.0:0.0:1.0	.	443	P19440	GGT1_HUMAN	T	443;443;443;443;443;443;99;99;99;99;99	ENSP00000248923:I443T;ENSP00000393537:I443T;ENSP00000383232:I443T;ENSP00000383233:I443T;ENSP00000383231:I443T;ENSP00000385975:I443T;ENSP00000384381:I99T;ENSP00000385445:I99T;ENSP00000384820:I99T;ENSP00000385016:I99T;ENSP00000385001:I99T	ENSP00000248923:I443T	I	+	2	0	GGT1	23353938	1.000000	0.71417	0.952000	0.39060	0.028000	0.11728	7.217000	0.77982	1.593000	0.50029	0.373000	0.22412	ATC		0.617	GGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250797.1	NM_013430		C	25023938	T	C	25023938	3	2	686	1	0	0	0	0	1	0	0	0	6363	1435	50	3	1362	3	GGT1	22	25023938	Missense_Mutation	SNP	T	TCGA-IZ-8196-01A-11D-2396-08	289524	25023938	26280628	93	37982											
CHKB	1120	hgsc.bcm.edu	37	22	51018475	51018475	+	Silent	SNP	A	A	C			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr22:51018475A>C	ENST00000406938.2	-	8	1072	c.855T>G	c.(853-855)gtT>gtG	p.V285V	CHKB-CPT1B_ENST00000452668.1_5'Flank|CPT1B_ENST00000405237.3_5'Flank|CHKB_ENST00000463053.1_5'Flank|CHKB-CPT1B_ENST00000453634.1_5'Flank|CPT1B_ENST00000440709.1_5'Flank|CHKB-AS1_ENST00000380711.3_RNA|CPT1B_ENST00000312108.7_5'Flank|CPT1B_ENST00000395650.2_5'Flank|CPT1B_ENST00000434492.2_5'Flank|CPT1B_ENST00000360719.2_5'Flank|CPT1B_ENST00000457250.1_5'Flank	NM_005198.4	NP_005189.2	Q9Y259	CHKB_HUMAN	choline kinase beta	285					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|choline kinase activity (GO:0004103)|ethanolamine kinase activity (GO:0004305)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|ovary(3)|skin(1)|urinary_tract(1)	15		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)		all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205)	Choline(DB00122)	TATAATCATAAACCCACTCAC	0.522																																																0													88	94	92					22																	51018475		2203	4300	6503	SO:0001819	synonymous_variant	1120			AB029886	CCDS14099.1	22q13.33	2011-02-16	2004-04-19	2004-04-19	ENSG00000100288	ENSG00000100288			1938	protein-coding gene	gene with protein product		612395	"choline kinase-like"	CHKL		9224698, 15003397	Standard	NM_005198		Approved	CHETK	uc003bmv.3	Q9Y259	OTTHUMG00000150275	ENST00000406938.2:c.855T>G	chr22.hg19:g.51018475A>C			A0PJM6|Q13388	Silent	SNP	ENST00000406938.2	hg19	CCDS14099.1																																																																																				0.522	CHKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317267.3	NM_005198		C	51018475	A	C	51018475	2	2	686	1	0	0	0	0	0	0	0	1	3350	1	1	5		5	CHKB	22	51018475	Silent	SNP	A	TCGA-IZ-8196-01A-11D-2396-08	25994537	51018475	286091	94	37983											
PLCH2	9651	hgsc.bcm.edu	37	1	2418423	2418423	+	Silent	SNP	G	G	A			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr1:2418423G>A	ENST00000419816.2	+	6	1168	c.894G>A	c.(892-894)ggG>ggA	p.G298G	PLCH2_ENST00000449969.1_Silent_p.G271G|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000378486.3_Silent_p.G298G|PLCH2_ENST00000378488.3_Silent_p.G298G			O75038	PLCH2_HUMAN	phospholipase C, eta 2	298					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)		AGAGTAAGGGGCTGCTGGGCA	0.632																																																0													55	59	57					1																	2418423		2096	4214	6310	SO:0001819	synonymous_variant	9651			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.894G>A	chr1.hg19:g.2418423G>A			A2VCM3|B9DI80|Q3LUA8|Q86XJ2|Q86XU1|Q86YU7|Q8TEH5|Q8WUS6	Silent	SNP	ENST00000419816.2	hg19																																																																																					0.632	PLCH2-009	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467514.1	NM_014638		A	2418423	G	A	2418423	2	1	687	1	0	0	0	0	0	0	0	1	12040	1190	42	2		2	PLCH2	1	2418423	Silent	SNP	G	TCGA-IZ-A6M8-01A-11D-A31X-10		2418423	246832198	1	37984											
CASZ1	54897	hgsc.bcm.edu	37	1	10714628	10714628	+	Silent	SNP	G	G	A			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr1:10714628G>A	ENST00000377022.3	-	10	2003	c.1686C>T	c.(1684-1686)taC>taT	p.Y562Y	CASZ1_ENST00000344008.5_Silent_p.Y562Y|RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	562					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)		ACGTGCTCGTGTACACCTTGT	0.597																																																0													210	193	199					1																	10714628		2203	4300	6503	SO:0001819	synonymous_variant	54897			AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"Zinc fingers, C2H2-type"	26002	protein-coding gene	gene with protein product	"zinc finger protein 693", "survival related gene"	609895	"castor homolog 1, zinc finger (Drosophila)"			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.1686C>T	chr1.hg19:g.10714628G>A			Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Silent	SNP	ENST00000377022.3	hg19	CCDS41246.1																																																																																				0.597	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		A	10714628	G	A	10714628	2	1	687	1	0	0	0	0	0	0	0	1	2687	1372	48	2		2	CASZ1	1	10714628	Silent	SNP	G	TCGA-IZ-A6M8-01A-11D-A31X-10	8296205	10714628	238535993	2	37985											
KDM1A	23028	hgsc.bcm.edu	37	1	23380289	23380289	+	Silent	SNP	G	G	A			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr1:23380289G>A	ENST00000356634.3	+	4	836	c.687G>A	c.(685-687)ctG>ctA	p.L229L	RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000400181.4_Silent_p.L249L|KDM1A_ENST00000542151.1_Silent_p.L249L	NM_015013.3	NP_055828.2	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	229	SWIRM. {ECO:0000255|PROSITE- ProRule:PRU00247}.				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						AGATTCAGCTGACATTTGAGG	0.323																																																0													92	84	87					1																	23380289		2203	4300	6503	SO:0001819	synonymous_variant	23028			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.687G>A	chr1.hg19:g.23380289G>A			A8MWP9|Q5TH94|Q5TH95|Q86VT7|Q8IXK4|Q8NDP6|Q8TAZ3|Q96AW4	Silent	SNP	ENST00000356634.3	hg19	CCDS30627.1																																																																																				0.323	KDM1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008880.3	NM_015013		A	23380289	G	A	23380289	2	1	687	1	0	0	0	0	0	0	0	1	8124	1277	45	2		2	KDM1A	1	23380289	Silent	SNP	G	TCGA-IZ-A6M8-01A-11D-A31X-10	12665661	23380289	225870332	3	37986											
WDR65	149465	hgsc.bcm.edu	37	1	43675436	43675439	+	Frame_Shift_Del	DEL	TTGA	TTGA	-			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10	TTGA	TTGA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr1:43675436_43675439delTTGA	ENST00000372492.4	+	11	2102_2105	c.1778_1781delTTGA	c.(1777-1782)tttgatfs	p.FD593fs	WDR65_ENST00000528956.1_Frame_Shift_Del_p.FD593fs	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN		593										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)				ATATCGGCGTTTGATGTCACCTAC	0.574																																																0																																										SO:0001589	frameshift_variant	149465																														ENST00000372492.4:c.1778_1781delTTGA	chr1.hg19:g.43675436_43675439delTTGA	ENSP00000361570:p.Phe593fs		A6NKQ3|Q17RI9|Q5TAI0	Frame_Shift_Del	DEL	ENST00000372492.4	hg19																																																																																					0.574	WDR65-002	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000384325.1			-	43675439	TTGA	-	43675436	7	5	687	1	0	1	0	1	0	0	0	0	17321	1841	64	0	1816	0	WDR65	1	43675436	Frame_Shift_Del	DEL	TTGA	TCGA-IZ-A6M8-01A-11D-A31X-10	20295147	43675436	205575185	4	37987											
TESK2	10420	hgsc.bcm.edu	37	1	45812448	45812448	+	Missense_Mutation	SNP	A	A	T			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr1:45812448A>T	ENST00000372086.3	-	9	1196	c.796T>A	c.(796-798)Ttc>Atc	p.F266I	TESK2_ENST00000538496.1_Missense_Mutation_p.F183I|TESK2_ENST00000341771.6_Intron|TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000372084.1_Intron	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2	266	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|focal adhesion assembly (GO:0048041)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|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)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					TCCAGCCCGAAATTCTGTGGA	0.502																																																0													79	82	81					1																	45812448		1949	4153	6102	SO:0001583	missense	10420			AJ132545	CCDS41323.1	1p32	2010-04-27			ENSG00000070759	ENSG00000070759	2.7.12.1		11732	protein-coding gene	gene with protein product		604746				10512679	Standard	NM_007170		Approved		uc001cns.1	Q96S53	OTTHUMG00000007680	ENST00000372086.3:c.796T>A	chr1.hg19:g.45812448A>T	ENSP00000361158:p.Phe266Ile		Q5T422|Q5T423|Q8N520|Q9Y3Q6	Missense_Mutation	SNP	ENST00000372086.3	hg19	CCDS41323.1	.	.	.	.	.	.	.	.	.	.	A	34	5.297190	0.95574	.	.	ENSG00000070759	ENST00000372086;ENST00000372083;ENST00000538496	D;D	0.81579	-1.51;-1.51	6.08	6.08	0.98989	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000002	D	0.86573	0.5965	L	0.42581	1.335	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87288	0.2297	10	0.62326	D	0.03	-8.8357	16.6438	0.85155	1.0:0.0:0.0:0.0	.	266	Q96S53	TESK2_HUMAN	I	266;250;183	ENSP00000361158:F266I;ENSP00000441746:F183I	ENSP00000361155:F250I	F	-	1	0	TESK2	45585035	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	9.317000	0.96327	2.333000	0.79357	0.533000	0.62120	TTC		0.502	TESK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020523.1	NM_007170		T	45812448	A	T	45812448	3	4	687	1	0	0	0	0	1	0	0	0	15773	14	1	5	931	5	TESK2	1	45812448	Missense_Mutation	SNP	A	TCGA-IZ-A6M8-01A-11D-A31X-10	2137012	45812448	203438173	5	37988											
ELTD1	64123	hgsc.bcm.edu	37	1	79470814	79470814	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr1:79470814delC	ENST00000370742.3	-	2	176	c.113delG	c.(112-114)ggafs	p.G38fs		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	38	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)	p.G38E(1)		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)		GGCTTCAATTCCATTGCGTAT	0.348																																																1	Substitution - Missense(1)	endometrium(1)											140	127	131					1																	79470814		1864	4103	5967	SO:0001589	frameshift_variant	64123			AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"-", "GPCR / Class B : Orphans"	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.113delG	chr1.hg19:g.79470814delC	ENSP00000359778:p.Gly38fs		B1AR71|Q5KU34	Frame_Shift_Del	DEL	ENST00000370742.3	hg19	CCDS41352.1																																																																																				0.348	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159		-	79470814	C	-	79470814	7	5	687	1	0	1	0	1	0	0	0	0	5086	855	30	0	2015	0	ELTD1	1	79470814	Frame_Shift_Del	DEL	C	TCGA-IZ-A6M8-01A-11D-A31X-10	33658366	79470814	169779807	6	37989											
MCOLN3	55283	hgsc.bcm.edu	37	1	85506767	85506767	+	Missense_Mutation	SNP	C	C	G			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr1:85506767C>G	ENST00000370589.2	-	3	374	c.322G>C	c.(322-324)Gac>Cac	p.D108H	MCOLN3_ENST00000341115.4_Intron|MCOLN3_ENST00000370587.1_Missense_Mutation_p.D108H|WDR63_ENST00000370596.1_Intron	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	108					auditory receptor cell differentiation (GO:0042491)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|locomotory behavior (GO:0007626)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		TCCATTCGGTCCATATATCCT	0.378																																																0													235	209	217					1																	85506767		2203	4300	6503	SO:0001583	missense	55283			AF475085	CCDS701.1, CCDS58009.1	1p22.3	2011-12-16			ENSG00000055732	ENSG00000055732		"Voltage-gated ion channels / Transient receptor potential cation channels"	13358	protein-coding gene	gene with protein product		607400				16382100	Standard	NM_018298		Approved	TRPML3, FLJ11006, TRP-ML3	uc001dkp.3	Q8TDD5	OTTHUMG00000009955	ENST00000370589.2:c.322G>C	chr1.hg19:g.85506767C>G	ENSP00000359621:p.Asp108His		Q5T4H5|Q5T4H6|Q9NV09	Missense_Mutation	SNP	ENST00000370589.2	hg19	CCDS701.1	.	.	.	.	.	.	.	.	.	.	C	18.86	3.712652	0.68730	.	.	ENSG00000055732	ENST00000370589;ENST00000302814;ENST00000370587	T;T	0.62364	0.03;0.03	5.76	5.76	0.90799	.	0.048278	0.85682	D	0.000000	T	0.77239	0.4101	M	0.77820	2.39	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.69824	0.966;0.965	T	0.77608	-0.2524	10	0.56958	D	0.05	-2.0809	19.9857	0.97347	0.0:1.0:0.0:0.0	.	108;108	B1ANB7;Q8TDD5	.;MCLN3_HUMAN	H	108	ENSP00000359621:D108H;ENSP00000359619:D108H	ENSP00000304843:D108H	D	-	1	0	MCOLN3	85279355	1.000000	0.71417	0.506000	0.27664	0.660000	0.38997	5.767000	0.68850	2.706000	0.92434	0.655000	0.94253	GAC		0.378	MCOLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027569.2	NM_018298		G	85506767	C	G	85506767	3	3	687	1	0	0	0	0	1	0	0	0	9399	855	30	4	1383	4	MCOLN3	1	85506767	Missense_Mutation	SNP	C	TCGA-IZ-A6M8-01A-11D-A31X-10	6035953	85506767	163743854	7	37990											
TRIM45	80263	hgsc.bcm.edu	37	1	117660955	117660955	+	Missense_Mutation	SNP	T	T	G			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr1:117660955T>G	ENST00000256649.4	-	2	1449	c.923A>C	c.(922-924)aAt>aCt	p.N308T	TRIM45_ENST00000369464.3_Missense_Mutation_p.N308T|TRIM45_ENST00000369461.3_Missense_Mutation_p.N251T	NM_025188.3	NP_079464.2	Q9H8W5	TRI45_HUMAN	tripartite motif containing 45	308					bone development (GO:0060348)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		CTGCAGGGAATTTTCCTTCTG	0.567																																																0													76	74	74					1																	117660955		2203	4300	6503	SO:0001583	missense	80263				CCDS893.1, CCDS44200.1	1p13.1	2011-04-20	2011-01-25		ENSG00000134253	ENSG00000134253		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19018	protein-coding gene	gene with protein product		609318	"tripartite motif-containing 45"			15351693	Standard	NM_025188		Approved	FLJ13181, RNF99	uc001egz.2	Q9H8W5	OTTHUMG00000012119	ENST00000256649.4:c.923A>C	chr1.hg19:g.117660955T>G	ENSP00000256649:p.Asn308Thr		Q53GN0|Q5T2K4|Q5T2K5|Q8IYV6	Missense_Mutation	SNP	ENST00000256649.4	hg19	CCDS893.1	.	.	.	.	.	.	.	.	.	.	T	10.44	1.352209	0.24512	.	.	ENSG00000134253	ENST00000256649;ENST00000369464;ENST00000369461	D;D;D	0.85629	-2.01;-2.01;-2.01	5.11	3.96	0.45880	.	0.242716	0.47852	N	0.000216	T	0.66557	0.2801	L	0.35723	1.085	0.44254	D	0.997108	B;B	0.16802	0.019;0.011	B;B	0.15870	0.014;0.006	T	0.63594	-0.6602	10	0.37606	T	0.19	-26.5032	11.6751	0.51425	0.0:0.0:0.1477:0.8522	.	308;308	Q9H8W5-2;Q9H8W5	.;TRI45_HUMAN	T	308;308;251	ENSP00000256649:N308T;ENSP00000358476:N308T;ENSP00000358473:N251T	ENSP00000256649:N308T	N	-	2	0	TRIM45	117462478	1.000000	0.71417	0.823000	0.32752	0.520000	0.34377	2.680000	0.46918	0.932000	0.37266	0.533000	0.62120	AAT		0.567	TRIM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033503.1	NM_025188		G	117660955	T	G	117660955	3	3	687	1	0	0	0	0	1	0	0	0	16525	1493	52	5	839	5	TRIM45	1	117660955	Missense_Mutation	SNP	T	TCGA-IZ-A6M8-01A-11D-A31X-10	32154188	117660955	131589666	8	37991											
SETDB1	9869	hgsc.bcm.edu	37	1	150900339	150900347	+	In_Frame_Del	DEL	AGATGGATT	AGATGGATT	-	rs201917860|rs200122173		TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10	AGATGGATT	AGATGGATT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr1:150900339_150900347delAGATGGATT	ENST00000271640.5	+	2	339_347	c.149_157delAGATGGATT	c.(148-159)aagatggattgt>agt	p.50_53KMDC>S	SETDB1_ENST00000459773.1_3'UTR|SETDB1_ENST00000368963.1_In_Frame_Del_p.50_53KMDC>S|SETDB1_ENST00000368969.4_In_Frame_Del_p.50_53KMDC>S|SETDB1_ENST00000368962.2_In_Frame_Del_p.50_53KMDC>S	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	50					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)			GAACTGGAGAAGATGGATTGTGTACAGCA	0.474																																																0																																										SO:0001651	inframe_deletion	9869			D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"Chromatin-modifying enzymes / K-methyltransferases", "Tudor domain containing"	10761	protein-coding gene	gene with protein product	"tudor domain containing 21"	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.149_157delAGATGGATT	chr1.hg19:g.150900339_150900347delAGATGGATT	ENSP00000271640:p.Lys50_Cys53delinsSer		A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	In_Frame_Del	DEL	ENST00000271640.5	hg19	CCDS44217.1																																																																																				0.474	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2			-	150900347	AGATGGATT	-	150900339	7	5	687	1	0	1	0	1	0	0	0	0	14144	72	3	0	151	0	SETDB1	1	150900339	In_Frame_Del	DEL	AGATGGATT	TCGA-IZ-A6M8-01A-11D-A31X-10	33239384	150900339	98350282	9	37992											
ZNF281	23528	hgsc.bcm.edu	37	1	200378264	200378264	+	Silent	SNP	C	C	T			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr1:200378264C>T	ENST00000294740.3	-	2	694	c.570G>A	c.(568-570)caG>caA	p.Q190Q	ZNF281_ENST00000367353.1_Silent_p.Q190Q|ZNF281_ENST00000367352.3_Silent_p.Q154Q	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	190					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						CACGGTGGTGCTGGGCTGGTT	0.562																																																0													101	97	98					1																	200378264		2203	4300	6503	SO:0001819	synonymous_variant	23528			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.570G>A	chr1.hg19:g.200378264C>T			A6NF48|B3KMX2|Q5RKW5|Q9NY92	Silent	SNP	ENST00000294740.3	hg19	CCDS1402.1																																																																																				0.562	ZNF281-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086879.2	NM_012482		T	200378264	C	T	200378264	2	4	687	1	0	0	0	0	0	0	0	1	17823	796	28	2		2	ZNF281	1	200378264	Silent	SNP	C	TCGA-IZ-A6M8-01A-11D-A31X-10	49477925	200378264	48872357	10	37993											
LBR	3930	hgsc.bcm.edu	37	1	225600280	225600280	+	Missense_Mutation	SNP	A	A	C			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr1:225600280A>C	ENST00000338179.2	-	8	1085	c.960T>G	c.(958-960)caT>caG	p.H320Q	AC092811.1_ENST00000366845.2_5'Flank|LBR_ENST00000272163.4_Missense_Mutation_p.H320Q	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	320					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)		TGTACACGTAATGAAACTCTA	0.413																																																0													79	80	80					1																	225600280		2203	4300	6503	SO:0001583	missense	3930			L25931	CCDS1545.1	1q42.1	2013-01-23			ENSG00000143815	ENSG00000143815		"Tudor domain containing"	6518	protein-coding gene	gene with protein product	"tudor domain containing 18"	600024				8157663, 9878250	Standard	NM_194442		Approved	DHCR14B, TDRD18	uc001hoy.3	Q14739	OTTHUMG00000037520	ENST00000338179.2:c.960T>G	chr1.hg19:g.225600280A>C	ENSP00000339883:p.His320Gln		B2R5P3|Q14740|Q53GU7|Q59FE6	Missense_Mutation	SNP	ENST00000338179.2	hg19	CCDS1545.1	.	.	.	.	.	.	.	.	.	.	A	10.74	1.434732	0.25813	.	.	ENSG00000143815	ENST00000272163;ENST00000338179	D;D	0.97811	-4.55;-4.55	6.07	-0.357	0.12579	.	1.680490	0.02408	N	0.081343	D	0.92440	0.7600	N	0.04203	-0.255	0.09310	N	1	B	0.23128	0.08	B	0.18263	0.021	D	0.86742	0.1955	10	0.29301	T	0.29	3.4658	9.9056	0.41375	0.6743:0.0:0.3257:0.0	.	320	Q14739	LBR_HUMAN	Q	320	ENSP00000272163:H320Q;ENSP00000339883:H320Q	ENSP00000272163:H320Q	H	-	3	2	LBR	223666903	0.080000	0.21391	0.000000	0.03702	0.029000	0.11900	0.526000	0.22971	-0.299000	0.08909	0.533000	0.62120	CAT		0.413	LBR-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091398.1	NM_002296		C	225600280	A	C	225600280	3	2	687	1	0	0	0	0	1	0	0	0	8654	98	4	5	915	5	LBR	1	225600280	Missense_Mutation	SNP	A	TCGA-IZ-A6M8-01A-11D-A31X-10	25222016	225600280	23650341	11	37994											
SULT6B1	391365	hgsc.bcm.edu	37	2	37414574	37414575	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr2:37414574_37414575insT	ENST00000535679.1	-	2	234_235	c.235_236insA	c.(235-237)atafs	p.I79fs	SULT6B1_ENST00000260637.3_Frame_Shift_Ins_p.I41fs|SULT6B1_ENST00000407963.1_Frame_Shift_Ins_p.I41fs|SULT6B1_ENST00000379149.2_Frame_Shift_Ins_p.I79fs			Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member 1	79						cytoplasm (GO:0005737)	sulfotransferase activity (GO:0008146)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				AACAGCATATATTAATTCACTG	0.327																																																0																																										SO:0001589	frameshift_variant	391365			AY289770, AY289774	CCDS33182.1	2p22.2	2007-07-26			ENSG00000138068	ENSG00000138068		"Sulfotransferases, cytosolic"	33433	protein-coding gene	gene with protein product						14676822	Standard	XM_005264307		Approved		uc002rpu.3	Q6IMI4	OTTHUMG00000152160	ENST00000535679.1:c.236dupA	chr2.hg19:g.37414576_37414576dupT	ENSP00000444081:p.Ile79fs		B2RTS7	Frame_Shift_Ins	INS	ENST00000535679.1	hg19																																																																																					0.327	SULT6B1-203	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001032377		T	37414575	-	T	37414574	7	5	687	1	0	1	1	0	0	0	0	0	15389	449	16	0	699	0	SULT6B1	2	37414574	Frame_Shift_Ins	INS	-	TCGA-IZ-A6M8-01A-11D-A31X-10		37414574	205784799	12	37995											
GMCL1	64395	hgsc.bcm.edu	37	2	70096993	70096993	+	Missense_Mutation	SNP	T	T	G			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr2:70096993T>G	ENST00000282570.3	+	12	1612	c.1361T>G	c.(1360-1362)tTt>tGt	p.F454C		NM_178439.3	NP_848526.1	Q96IK5	GMCL1_HUMAN	germ cell-less, spermatogenesis associated 1	454					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)	nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	15						AGCATAGCATTTAGGTAGGAT	0.398																																																0													138	118	125					2																	70096993		2203	4300	6503	SO:0001583	missense	64395			AK023119	CCDS1895.1	2p13.3	2013-01-09	2012-08-20		ENSG00000087338	ENSG00000087338		"BTB/POZ domain containing"	23843	protein-coding gene	gene with protein product	"spermatogenesis associated 29"		"germ cell-less homolog 1 (Drosophila)"				Standard	NM_178439		Approved	FLJ13057, BTBD13, GCL1, SPATA29	uc002sfu.3	Q96IK5	OTTHUMG00000129643	ENST00000282570.3:c.1361T>G	chr2.hg19:g.70096993T>G	ENSP00000282570:p.Phe454Cys		Q9H826|Q9H8V7|Q9H927	Missense_Mutation	SNP	ENST00000282570.3	hg19	CCDS1895.1	.	.	.	.	.	.	.	.	.	.	T	15.07	2.723230	0.48728	.	.	ENSG00000087338	ENST00000282570	T	0.56103	0.48	5.22	5.22	0.72569	.	0.108148	0.64402	D	0.000004	T	0.63534	0.2519	L	0.44542	1.39	0.46113	D	0.99887	D	0.76494	0.999	D	0.70227	0.968	T	0.64478	-0.6398	10	0.51188	T	0.08	-38.9046	13.3387	0.60533	0.0:0.0:0.0:1.0	.	454	Q96IK5	GMCL1_HUMAN	C	454	ENSP00000282570:F454C	ENSP00000282570:F454C	F	+	2	0	GMCL1	69950497	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.799000	0.55529	2.090000	0.63153	0.533000	0.62120	TTT		0.398	GMCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251841.2	NM_178439		G	70096993	T	G	70096993	3	3	687	1	0	0	0	0	1	0	0	0	6487	1841	64	5	1407	5	GMCL1	2	70096993	Missense_Mutation	SNP	T	TCGA-IZ-A6M8-01A-11D-A31X-10	32682419	70096993	173102380	13	37996											
PCDP1	200373	hgsc.bcm.edu	37	2	120362785	120362785	+	Missense_Mutation	SNP	A	A	C			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr2:120362785A>C	ENST00000413369.3	+	11	1140	c.1053A>C	c.(1051-1053)aaA>aaC	p.K351N	PCDP1_ENST00000602047.1_Missense_Mutation_p.K65N|PCDP1_ENST00000597189.1_3'UTR	NM_001271049.1	NP_001257978																Colorectal(110;0.196)					AAATTTCAAAAACGAGACAGA	0.383																																																0													67	70	69					2																	120362785		2203	4300	6503	SO:0001583	missense	0																														ENST00000413369.3:c.1053A>C	chr2.hg19:g.120362785A>C	ENSP00000393222:p.Lys351Asn			Missense_Mutation	SNP	ENST00000413369.3	hg19	CCDS33282.2	.	.	.	.	.	.	.	.	.	.	A	14.44	2.535164	0.45176	.	.	ENSG00000163075	ENST00000295220;ENST00000413369	T	0.19938	2.11	5.22	2.87	0.33458	.	0.239906	0.36338	N	0.002660	T	0.12433	0.0302	L	0.34521	1.04	0.80722	D	1	P;B	0.35011	0.48;0.291	B;B	0.27715	0.082;0.082	T	0.13872	-1.0493	10	0.27082	T	0.32	-25.951	8.4885	0.33086	0.8403:0.0:0.1597:0.0	.	195;351	Q4G0U5-3;Q4G0U5	.;PCDP1_HUMAN	N	65;351	ENSP00000393222:K351N	ENSP00000295220:K65N	K	+	3	2	AC069154.2	120079255	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.660000	0.37397	0.460000	0.27045	0.533000	0.62120	AAA		0.383	PCDP1-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464236.1			C	120362785	A	C	120362785	3	2	687	1	0	0	0	0	1	0	0	0	11574	11	1	5	205	5	PCDP1	2	120362785	Missense_Mutation	SNP	A	TCGA-IZ-A6M8-01A-11D-A31X-10	50265792	120362785	122836588	14	37997											
PTPN23	25930	hgsc.bcm.edu	37	3	47452317	47452317	+	Missense_Mutation	SNP	C	C	G			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr3:47452317C>G	ENST00000265562.4	+	20	3106	c.3029C>G	c.(3028-3030)cCg>cGg	p.P1010R	PTPN23_ENST00000431726.1_Missense_Mutation_p.P884R	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	1010	His.|Pro-rich.				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)		CTGGGGCAGCCGCCACCCCCC	0.687																																																0													15	20	18					3																	47452317		2139	4247	6386	SO:0001583	missense	25930			AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.3029C>G	chr3.hg19:g.47452317C>G	ENSP00000265562:p.Pro1010Arg		A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Missense_Mutation	SNP	ENST00000265562.4	hg19	CCDS2754.1	.	.	.	.	.	.	.	.	.	.	C	12.39	1.923200	0.33908	.	.	ENSG00000076201	ENST00000265562	T	0.02763	4.17	4.29	3.18	0.36537	.	0.362779	0.25154	N	0.032736	T	0.02342	0.0072	N	0.19112	0.55	0.41800	D	0.989917	P;P	0.37824	0.609;0.609	B;B	0.39738	0.308;0.308	T	0.62310	-0.6881	10	0.37606	T	0.19	-4.7843	6.2976	0.21095	0.0:0.6978:0.0:0.3022	.	884;1010	B4DST5;Q9H3S7	.;PTN23_HUMAN	R	1010	ENSP00000265562:P1010R	ENSP00000265562:P1010R	P	+	2	0	PTPN23	47427321	0.000000	0.05858	0.892000	0.35008	0.632000	0.37999	0.244000	0.18124	0.976000	0.38417	0.557000	0.71058	CCG		0.687	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257492.2	NM_015466		G	47452317	C	G	47452317	3	3	687	1	0	0	0	0	1	0	0	0	12794	652	23	4	3107	4	PTPN23	3	47452317	Missense_Mutation	SNP	C	TCGA-IZ-A6M8-01A-11D-A31X-10		47452317	150570113	15	37998											
IL17RD	54756	hgsc.bcm.edu	37	3	57136553	57136553	+	Silent	SNP	C	C	T			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr3:57136553C>T	ENST00000296318.7	-	10	1021	c.933G>A	c.(931-933)tcG>tcA	p.S311S	IL17RD_ENST00000320057.5_Silent_p.S167S|IL17RD_ENST00000463523.1_Silent_p.S167S|IL17RD_ENST00000427856.2_Silent_p.S287S	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	311					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)		TCGCGAATGCCGATATGACTA	0.547																																																0													70	69	69					3																	57136553		2203	4300	6503	SO:0001819	synonymous_variant	54756			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.933G>A	chr3.hg19:g.57136553C>T			Q2NKP7|Q58EZ7|Q6RVF4|Q6UWI5|Q8N113|Q8NFS0|Q9UFA0	Silent	SNP	ENST00000296318.7	hg19	CCDS2880.2																																																																																				0.547	IL17RD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316680.1	NM_017563		T	57136553	C	T	57136553	2	4	687	1	0	0	0	0	0	0	0	1	7644	639	23	1		1	IL17RD	3	57136553	Silent	SNP	C	TCGA-IZ-A6M8-01A-11D-A31X-10	9684236	57136553	140885877	16	37999											
DNAJC13	23317	hgsc.bcm.edu	37	3	132207851	132207851	+	Missense_Mutation	SNP	T	T	C			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr3:132207851T>C	ENST00000260818.6	+	31	3702	c.3454T>C	c.(3454-3456)Ttc>Ctc	p.F1152L		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1152					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						CAAACAGGCTTTCAAGTCAGA	0.333																																																0													64	65	64					3																	132207851		2203	4300	6503	SO:0001583	missense	23317			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.3454T>C	chr3.hg19:g.132207851T>C	ENSP00000260818:p.Phe1152Leu		Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	hg19	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.653771	0.88056	.	.	ENSG00000138246	ENST00000260818	T	0.18174	2.23	5.57	5.57	0.84162	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.16171	0.0389	L	0.47716	1.5	0.80722	D	1	P	0.52463	0.953	B	0.39217	0.294	T	0.04708	-1.0932	10	0.25106	T	0.35	.	15.7007	0.77538	0.0:0.0:0.0:1.0	.	1152	O75165	DJC13_HUMAN	L	1152	ENSP00000260818:F1152L	ENSP00000260818:F1152L	F	+	1	0	DNAJC13	133690541	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.807000	0.75201	2.236000	0.73375	0.528000	0.53228	TTC		0.333	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		C	132207851	T	C	132207851	3	2	687	1	0	0	0	0	1	0	0	0	4634	1841	64	3	3572	3	DNAJC13	3	132207851	Missense_Mutation	SNP	T	TCGA-IZ-A6M8-01A-11D-A31X-10	75071298	132207851	65814579	17	38000											
WHSC1	7468	hgsc.bcm.edu	37	4	1977074	1977074	+	Missense_Mutation	SNP	G	G	C			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr4:1977074G>C	ENST00000382895.3	+	22	3999	c.3568G>C	c.(3568-3570)Gtc>Ctc	p.V1190L	WHSC1_ENST00000382888.3_Missense_Mutation_p.V538L|WHSC1_ENST00000382892.2_Missense_Mutation_p.V1190L|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382891.5_Missense_Mutation_p.V1190L|WHSC1_ENST00000508803.1_Missense_Mutation_p.V1190L|SCARNA22_ENST00000503991.1_RNA	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	1190	Post-SET. {ECO:0000255|PROSITE- ProRule:PRU00155}.				anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		TGAAAAAACGGTCTGCCGGTG	0.532			T	IGH@	MM																																		Dom	yes		4	4p16.3	7468	Wolf-Hirschhorn syndrome candidate 1(MMSET)		L	0													101	93	96					4																	1977074		2203	4300	6503	SO:0001583	missense	7468			AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"Zinc fingers, PHD-type"	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.3568G>C	chr4.hg19:g.1977074G>C	ENSP00000372351:p.Val1190Leu		A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP	ENST00000382895.3	hg19	CCDS33940.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.627438	0.46944	.	.	ENSG00000109685	ENST00000508803;ENST00000382891;ENST00000382892;ENST00000382895;ENST00000382888	D;D;D;D;D	0.97066	-3.61;-3.61;-3.61;-3.61;-4.23	4.91	4.91	0.64330	Post-SET domain (2);	0.000000	0.49916	D	0.000140	D	0.93523	0.7933	L	0.42008	1.315	0.80722	D	1	B;B	0.30361	0.009;0.277	B;B	0.21151	0.012;0.033	D	0.91080	0.4899	10	0.30854	T	0.27	.	12.0537	0.53522	0.0793:0.0:0.9207:0.0	.	538;1190	A2A2T2;O96028	.;NSD2_HUMAN	L	1190;1190;1190;1190;538	ENSP00000423972:V1190L;ENSP00000372347:V1190L;ENSP00000372348:V1190L;ENSP00000372351:V1190L;ENSP00000372344:V538L	ENSP00000372344:V538L	V	+	1	0	WHSC1	1946872	1.000000	0.71417	0.974000	0.42286	0.874000	0.50279	5.102000	0.64572	2.719000	0.93026	0.655000	0.94253	GTC		0.532	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	NM_133330		C	1977074	G	C	1977074	3	2	687	1	0	0	0	0	1	0	0	0	17367	1261	44	4	3718	4	WHSC1	4	1977074	Missense_Mutation	SNP	G	TCGA-IZ-A6M8-01A-11D-A31X-10		1977074	189177202	18	38001											
WDR19	57728	hgsc.bcm.edu	37	4	39205336	39205336	+	Missense_Mutation	SNP	A	A	C			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr4:39205336A>C	ENST00000399820.3	+	7	751	c.597A>C	c.(595-597)gaA>gaC	p.E199D	WDR19_ENST00000288634.7_Missense_Mutation_p.E39D|WDR19_ENST00000506503.1_Missense_Mutation_p.E199D	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	199					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium assembly (GO:0042384)|digestive system development (GO:0055123)|ear morphogenesis (GO:0042471)|embryonic camera-type eye development (GO:0031076)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|intraciliary retrograde transport (GO:0035721)|myotome development (GO:0061055)|neurological system process (GO:0050877)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|photoreceptor connecting cilium (GO:0032391)				large_intestine(1)	1						CTGCTGCTGAAAGCATGGTAA	0.353																																																0													92	83	86					4																	39205336		1872	4111	5983	SO:0001583	missense	57728			AB046858, AY029257	CCDS47042.1	4p14	2014-02-21			ENSG00000157796	ENSG00000157796		"WD repeat domain containing", "Intraflagellar transport homologs"	18340	protein-coding gene	gene with protein product	"intraflagellar transport 144 homolog (Chlamydomonas)"	608151				12906858, 22019273	Standard	XM_005262658		Approved	Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13	uc003gtv.3	Q8NEZ3	OTTHUMG00000160466	ENST00000399820.3:c.597A>C	chr4.hg19:g.39205336A>C	ENSP00000382717:p.Glu199Asp		B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	Missense_Mutation	SNP	ENST00000399820.3	hg19	CCDS47042.1	.	.	.	.	.	.	.	.	.	.	A	14.28	2.488399	0.44249	.	.	ENSG00000157796	ENST00000399820;ENST00000509560;ENST00000512112;ENST00000288634;ENST00000506503;ENST00000399836	T;T;T;T	0.66099	3.42;2.2;-0.19;3.42	5.64	1.62	0.23740	WD40 repeat-like-containing domain (1);	0.134922	0.64402	D	0.000003	T	0.51941	0.1704	M	0.64080	1.96	0.38720	D	0.953425	B;B	0.19445	0.002;0.036	B;B	0.20767	0.007;0.031	T	0.38714	-0.9648	10	0.23891	T	0.37	-17.3314	6.2227	0.20691	0.6749:0.1242:0.2008:0.0	.	199;199	Q8NEZ3;D6R9P6	WDR19_HUMAN;.	D	199;140;39;39;199;198	ENSP00000382717:E199D;ENSP00000426918:E140D;ENSP00000288634:E39D;ENSP00000423491:E199D	ENSP00000288634:E39D	E	+	3	2	WDR19	38881731	1.000000	0.71417	0.974000	0.42286	0.955000	0.61496	0.886000	0.28241	0.111000	0.17947	0.455000	0.32223	GAA		0.353	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360689.1			C	39205336	A	C	39205336	3	2	687	1	0	0	0	0	1	0	0	0	17284	11	1	5	623	5	WDR19	4	39205336	Missense_Mutation	SNP	A	TCGA-IZ-A6M8-01A-11D-A31X-10	37228262	39205336	151948940	19	38002											
EXOC1	55763	hgsc.bcm.edu	37	4	56737307	56737307	+	Missense_Mutation	SNP	A	A	C			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr4:56737307A>C	ENST00000381295.2	+	7	1220	c.872A>C	c.(871-873)cAg>cCg	p.Q291P	EXOC1_ENST00000349598.6_Missense_Mutation_p.Q291P|EXOC1_ENST00000346134.7_Missense_Mutation_p.Q291P	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	291					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)					AAGGCCCTTCAGGAAGGAGAT	0.453																																																0													95	83	87					4																	56737307		2203	4300	6503	SO:0001583	missense	55763			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.872A>C	chr4.hg19:g.56737307A>C	ENSP00000370695:p.Gln291Pro		Q504V4|Q8WUE7|Q96T15|Q9NZE4	Missense_Mutation	SNP	ENST00000381295.2	hg19	CCDS3502.1	.	.	.	.	.	.	.	.	.	.	A	14.67	2.604708	0.46423	.	.	ENSG00000090989	ENST00000381295;ENST00000346134;ENST00000349598	.	.	.	5.97	4.77	0.60923	.	0.224009	0.46758	D	0.000269	T	0.57489	0.2057	L	0.53249	1.67	0.54753	D	0.999985	P;P	0.47191	0.891;0.626	P;P	0.46885	0.466;0.53	T	0.54200	-0.8329	9	0.30854	T	0.27	.	12.5014	0.55957	0.8746:0.0:0.0:0.1254	.	291;291	Q9NV70-2;Q9NV70	.;EXOC1_HUMAN	P	291	.	ENSP00000326514:Q291P	Q	+	2	0	EXOC1	56432064	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	5.837000	0.69381	1.053000	0.40415	-0.480000	0.04831	CAG		0.453	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361799.1	NM_018261		C	56737307	A	C	56737307	3	2	687	1	0	0	0	0	1	0	0	0	5303	188	7	5	894	5	EXOC1	4	56737307	Missense_Mutation	SNP	A	TCGA-IZ-A6M8-01A-11D-A31X-10	17531971	56737307	134416969	20	38003											
DDX60L	91351	hgsc.bcm.edu	37	4	169315621	169315621	+	Missense_Mutation	SNP	T	T	A			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr4:169315621T>A	ENST00000511577.1	-	28	4052	c.3805A>T	c.(3805-3807)Att>Ttt	p.I1269F	DDX60L_ENST00000260184.7_Missense_Mutation_p.I1269F|DDX60L_ENST00000505890.1_Missense_Mutation_p.I1270F			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1269	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.						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)		CCTACCCTAATAAGCCCTTTT	0.323																																																0													67	62	63					4																	169315621		1803	4068	5871	SO:0001583	missense	91351			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.3805A>T	chr4.hg19:g.169315621T>A	ENSP00000422423:p.Ile1269Phe		Q96ND6	Missense_Mutation	SNP	ENST00000511577.1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.62|13.62	2.293047|2.293047	0.40594|0.40594	.|.	.|.	ENSG00000181381|ENSG00000181381	ENST00000260184;ENST00000511577;ENST00000505890|ENST00000514580	T;T;T|.	0.59224|.	0.28;0.28;0.28|.	3.16|3.16	1.95|1.95	0.26073|0.26073	Helicase, C-terminal (3);|.	0.000000|.	0.36591|.	U|.	0.002501|.	T|T	0.60183|0.60183	0.2249|0.2249	M|M	0.87682|0.87682	2.9|2.9	0.09310|0.09310	N|N	0.999999|0.999999	D;D|.	0.71674|.	0.994;0.998|.	D;D|.	0.65773|.	0.922;0.938|.	T|T	0.52961|0.52961	-0.8505|-0.8505	10|5	0.66056|.	D|.	0.02|.	.|.	7.0872|7.0872	0.25264|0.25264	0.0:0.118:0.0:0.882|0.0:0.118:0.0:0.882	.|.	1270;1269|.	D6R906;Q5H9U9|.	.;DDX6L_HUMAN|.	F|F	1269;1269;1270|156	ENSP00000260184:I1269F;ENSP00000422423:I1269F;ENSP00000422202:I1270F|.	ENSP00000260184:I1269F|.	I|Y	-|-	1|2	0|0	DDX60L|DDX60L	169552196|169552196	0.721000|0.721000	0.28007|0.28007	0.002000|0.002000	0.10522|0.10522	0.093000|0.093000	0.18481|0.18481	1.244000|1.244000	0.32778|0.32778	0.248000|0.248000	0.21435|0.21435	0.383000|0.383000	0.25322|0.25322	ATT|TAT		0.323	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967		A	169315621	T	A	169315621	3	1	687	1	0	0	0	0	1	0	0	0	4381	1406	49	5	1359	5	DDX60L	4	169315621	Missense_Mutation	SNP	T	TCGA-IZ-A6M8-01A-11D-A31X-10	112578314	169315621	21838655	21	38004											
DMXL1	1657	hgsc.bcm.edu	37	5	118479556	118479556	+	Silent	SNP	T	T	C			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr5:118479556T>C	ENST00000311085.8	+	14	2477	c.2397T>C	c.(2395-2397)ttT>ttC	p.F799F	DMXL1_ENST00000539542.1_Silent_p.F799F	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	799										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)		GTGAAGTCTTTAACATCGTCA	0.299																																																0													110	116	114					5																	118479556		2201	4299	6500	SO:0001819	synonymous_variant	1657			AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"WD repeat domain containing"	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.2397T>C	chr5.hg19:g.118479556T>C				Silent	SNP	ENST00000311085.8	hg19	CCDS4125.1																																																																																				0.299	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		C	118479556	T	C	118479556	2	2	687	1	0	0	0	0	0	0	0	1	4596	1751	61	3		3	DMXL1	5	118479556	Silent	SNP	T	TCGA-IZ-A6M8-01A-11D-A31X-10		118479556	62435704	22	38005											
MEGF10	84466	hgsc.bcm.edu	37	5	126705695	126705695	+	Splice_Site	SNP	G	G	T			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr5:126705695G>T	ENST00000274473.6	+	6	679		c.e6+1		MEGF10_ENST00000508365.1_Splice_Site|MEGF10_ENST00000418761.2_Splice_Site|MEGF10_ENST00000503335.2_Splice_Site	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10						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)		TGCTCCAGTGGTAAGTTTCCA	0.537																																																0													176	140	152					5																	126705695		2203	4300	6503	SO:0001630	splice_region_variant	84466			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.412+1G>T	chr5.hg19:g.126705695G>T			Q68DE5|Q8WUL3	Splice_Site	SNP	ENST00000274473.6	hg19	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.749510	0.89753	.	.	ENSG00000145794	ENST00000503335;ENST00000508365;ENST00000418761;ENST00000274473	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1131	0.93326	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MEGF10	126733594	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.844000	0.99494	2.506000	0.84524	0.558000	0.71614	.		0.537	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446	Intron	T	126705695	G	T	126705695	5	4	687	1	0	0	0	0	0	0	1	0	9462	1275	44	4	427	4	MEGF10	5	126705695	Splice_Site	SNP	G	TCGA-IZ-A6M8-01A-11D-A31X-10	8226139	126705695	54209565	23	38006											
PIK3CG	5294	hgsc.bcm.edu	37	7	106508582	106508582	+	Frame_Shift_Del	DEL	C	C	-	rs377396894		TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr7:106508582delC	ENST00000359195.3	+	2	886	c.576delC	c.(574-576)gacfs	p.D192fs	PIK3CG_ENST00000440650.2_Frame_Shift_Del_p.D192fs|PIK3CG_ENST00000496166.1_Frame_Shift_Del_p.D192fs	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	192					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						CCAGCCGCGACCCCAAGCTCT	0.617																																																0													70	74	73					7																	106508582		2203	4300	6503	SO:0001589	frameshift_variant	5294				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.576delC	chr7.hg19:g.106508582delC	ENSP00000352121:p.Asp192fs		A4D0Q6|Q8IV23|Q9BZC8	Frame_Shift_Del	DEL	ENST00000359195.3	hg19	CCDS5739.1																																																																																				0.617	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			-	106508582	C	-	106508582	7	5	687	1	0	1	0	1	0	0	0	0	11918	506	18	0	578	0	PIK3CG	7	106508582	Frame_Shift_Del	DEL	C	TCGA-IZ-A6M8-01A-11D-A31X-10		106508582	52630081	24	38007											
RAB11FIP1	80223	hgsc.bcm.edu	37	8	37729061	37729061	+	Missense_Mutation	SNP	G	G	C			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr8:37729061G>C	ENST00000330843.4	-	4	3271	c.3259C>G	c.(3259-3261)Cct>Gct	p.P1087A	RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	1087					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)			GATGTGCCAGGAGGCGGGCTT	0.552											OREG0018713	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													190	202	198					8																	37729061		2203	4300	6503	SO:0001583	missense	80223			AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.3259C>G	chr8.hg19:g.37729061G>C	ENSP00000331342:p.Pro1087Ala	872	J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Missense_Mutation	SNP	ENST00000330843.4	hg19	CCDS34882.1	.	.	.	.	.	.	.	.	.	.	G	10.50	1.368051	0.24771	.	.	ENSG00000156675	ENST00000330843	T	0.11712	2.75	5.24	0.717	0.18196	.	0.271342	0.26499	N	0.024035	T	0.05823	0.0152	L	0.36672	1.1	0.09310	N	0.999994	P;B	0.37101	0.582;0.057	B;B	0.33392	0.163;0.02	T	0.32481	-0.9905	10	0.19590	T	0.45	-8.4888	3.2151	0.06696	0.4377:0.2192:0.3431:0.0	.	416;1087	Q67C35;Q6WKZ4	.;RFIP1_HUMAN	A	1087	ENSP00000331342:P1087A	ENSP00000331342:P1087A	P	-	1	0	RAB11FIP1	37848219	0.746000	0.28272	0.013000	0.15412	0.003000	0.03518	1.420000	0.34804	0.206000	0.20587	-0.136000	0.14681	CCT		0.552	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	NM_025151		C	37729061	G	C	37729061	3	2	687	1	0	0	0	0	1	0	0	0	12899	1174	41	4	604	4	RAB11FIP1	8	37729061	Missense_Mutation	SNP	G	TCGA-IZ-A6M8-01A-11D-A31X-10		37729061	108634961	25	38008											
DOCK8	81704	hgsc.bcm.edu	37	9	441958	441958	+	Silent	SNP	C	C	T			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr9:441958C>T	ENST00000453981.1	+	42	5551	c.5439C>T	c.(5437-5439)gtC>gtT	p.V1813V	DOCK8_ENST00000432829.2_Silent_p.V1745V|DOCK8_ENST00000382329.1_Silent_p.V1280V|DOCK8_ENST00000469391.1_Silent_p.V1713V			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1813	DHR-2.				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)		AGGAGTTTGTCTACAAAGAGC	0.403																																																0													111	106	108					9																	441958		2203	4300	6503	SO:0001819	synonymous_variant	81704			AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.5439C>T	chr9.hg19:g.441958C>T			A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Silent	SNP	ENST00000453981.1	hg19	CCDS6440.2																																																																																				0.403	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		T	441958	C	T	441958	2	4	687	1	0	0	0	0	0	0	0	1	4695	900	32	2		2	DOCK8	9	441958	Silent	SNP	C	TCGA-IZ-A6M8-01A-11D-A31X-10		441958	140771473	26	38009											
SHB	6461	hgsc.bcm.edu	37	9	37956019	37956019	+	Missense_Mutation	SNP	A	A	G			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr9:37956019A>G	ENST00000377707.3	-	4	1652	c.1087T>C	c.(1087-1089)Tcc>Ccc	p.S363P	RP11-613M10.9_ENST00000540557.1_3'UTR	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein B	363	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)		GGTGAGGGGGATGACTGCCGC	0.602																																																0													39	33	35					9																	37956019		1990	4146	6136	SO:0001583	missense	6461				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.1087T>C	chr9.hg19:g.37956019A>G	ENSP00000366936:p.Ser363Pro		B9EGM0|D3DRQ5|Q504U5|Q5VUM8	Missense_Mutation	SNP	ENST00000377707.3	hg19	CCDS43806.1	.	.	.	.	.	.	.	.	.	.	A	15.42	2.827960	0.50845	.	.	ENSG00000107338	ENST00000377707	T	0.36520	1.25	5.68	5.68	0.88126	.	0.117982	0.39341	N	0.001400	T	0.33760	0.0874	N	0.12182	0.205	0.80722	D	1	D	0.61697	0.99	P	0.53649	0.731	T	0.24297	-1.0164	10	0.52906	T	0.07	-16.6295	13.8702	0.63615	1.0:0.0:0.0:0.0	.	363	Q15464	SHB_HUMAN	P	363	ENSP00000366936:S363P	ENSP00000366936:S363P	S	-	1	0	SHB	37946019	1.000000	0.71417	0.999000	0.59377	0.957000	0.61999	6.114000	0.71560	2.161000	0.67846	0.460000	0.39030	TCC		0.602	SHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052490.1			G	37956019	A	G	37956019	3	3	687	1	0	0	0	0	1	0	0	0	14274	333	12	3	454	3	SHB	9	37956019	Missense_Mutation	SNP	A	TCGA-IZ-A6M8-01A-11D-A31X-10	37514061	37956019	103257412	27	38010											
PRKACG	5568	hgsc.bcm.edu	37	9	71628289	71628289	+	Silent	SNP	G	G	A	rs140133619		TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr9:71628289G>A	ENST00000377276.2	-	1	750	c.720C>T	c.(718-720)taC>taT	p.Y240Y		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	240	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)	p.Y240Y(1)		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						GCTGGTCGGCGTAGAAGGGTG	0.602																																					Esophageal Squamous(110;2236 2623 32146)											1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)											70	68	68					9																	71628289		2203	4300	6503	SO:0001819	synonymous_variant	5568			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.720C>T	chr9.hg19:g.71628289G>A			O60850|Q5VZ02|Q86YI1	Silent	SNP	ENST00000377276.2	hg19	CCDS6625.1																																																																																				0.602	PRKACG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052559.1			A	71628289	G	A	71628289	2	1	687	1	0	0	0	0	0	0	0	1	12504	1140	40	1		1	PRKACG	9	71628289	Silent	SNP	G	TCGA-IZ-A6M8-01A-11D-A31X-10	33672270	71628289	69585142	28	38011											
MAMDC4	158056	hgsc.bcm.edu	37	9	139748712	139748712	+	Silent	SNP	C	C	T			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr9:139748712C>T	ENST00000317446.2	+	7	770	c.720C>T	c.(718-720)gtC>gtT	p.V240V	MAMDC4_ENST00000445819.1_Silent_p.V240V|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)		AGAACAAGGTCTGCGTGGAGC	0.667																																																0													25	27	26					9																	139748712		2193	4296	6489	SO:0001819	synonymous_variant	158056			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.720C>T	chr9.hg19:g.139748712C>T				Silent	SNP	ENST00000317446.2	hg19	CCDS7010.1																																																																																				0.667	MAMDC4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254642.3	NM_206920		T	139748712	C	T	139748712	2	4	687	1	0	0	0	0	0	0	0	1	9206	900	32	2		2	MAMDC4	9	139748712	Silent	SNP	C	TCGA-IZ-A6M8-01A-11D-A31X-10	68120423	139748712	1464719	29	38012											
GPAM	57678	hgsc.bcm.edu	37	10	113913352	113913352	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr10:113913352G>A	ENST00000348367.4	-	22	2640	c.2443C>T	c.(2443-2445)Cga>Tga	p.R815*	GPAM_ENST00000423155.1_Nonsense_Mutation_p.R815*			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	815					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|defense response to virus (GO:0051607)|fatty acid homeostasis (GO:0055089)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|interleukin-2 secretion (GO:0070970)|negative regulation of activation-induced cell death of T cells (GO:0070236)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of multicellular organism growth (GO:0040018)|regulation of cytokine secretion (GO:0050707)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		AGTTTTTGTCGGTTGCATTGA	0.383																																					Ovarian(161;1017 2606 18293 52943)											0													126	131	129					10																	113913352		2203	4300	6503	SO:0001587	stop_gained	57678			AL832464	CCDS7570.1	10q25.3	2009-07-15			ENSG00000119927	ENSG00000119927			24865	protein-coding gene	gene with protein product	"glycerol-3-phosphate acyltransferase 1, mitochondrial"	602395				10997877, 8369314	Standard	NM_020918		Approved	KIAA1560, MGC26846, GPAT1	uc001kzp.3	Q9HCL2	OTTHUMG00000019055	ENST00000348367.4:c.2443C>T	chr10.hg19:g.113913352G>A	ENSP00000265276:p.Arg815*		Q5VW51|Q86TA3	Nonsense_Mutation	SNP	ENST00000348367.4	hg19	CCDS7570.1	.	.	.	.	.	.	.	.	.	.	G	40	8.137750	0.98672	.	.	ENSG00000119927	ENST00000348367;ENST00000423155	.	.	.	5.59	4.63	0.57726	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.7284	11.4195	0.49974	0.0:0.0:0.7192:0.2808	.	.	.	.	X	815	.	ENSP00000265276:R815X	R	-	1	2	GPAM	113903342	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.487000	0.45268	2.640000	0.89533	0.655000	0.94253	CGA		0.383	GPAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050377.1	NM_020918		A	113913352	G	A	113913352	4	1	687	1	0	0	0	0	0	1	0	0	6590	1124	39	1	47	1	GPAM	10	113913352	Nonsense_Mutation	SNP	G	TCGA-IZ-A6M8-01A-11D-A31X-10		113913352	21621395	30	38013											
DCHS1	8642	hgsc.bcm.edu	37	11	6652589	6652589	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr11:6652589delT	ENST00000299441.3	-	8	4136	c.3725delA	c.(3724-3726)aagfs	p.K1242fs	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1242	Cadherin 12. {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)		ATCTGGATCCTTCGCCTGCAG	0.552																																																0													206	169	181					11																	6652589		2201	4296	6497	SO:0001589	frameshift_variant	8642			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"Cadherins / Cadherin-related"	13681	protein-coding gene	gene with protein product	"cadherin-related family member 6"	603057	"protocadherin 16", "dachsous 1 (Drosophila)"	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.3725delA	chr11.hg19:g.6652589delT	ENSP00000299441:p.Lys1242fs		O15098	Frame_Shift_Del	DEL	ENST00000299441.3	hg19	CCDS7771.1																																																																																				0.552	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		-	6652589	T	-	6652589	7	5	687	1	0	1	0	1	0	0	0	0	4289	1609	56	0	6227	0	DCHS1	11	6652589	Frame_Shift_Del	DEL	T	TCGA-IZ-A6M8-01A-11D-A31X-10		6652589	128353927	31	38014											
IGSF22	283284	hgsc.bcm.edu	37	11	18731076	18731076	+	Missense_Mutation	SNP	C	C	A			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr11:18731076C>A	ENST00000513874.1	-	18	2995	c.2856G>T	c.(2854-2856)aaG>aaT	p.K952N	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	851										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						AGATGGGGATCTTTGTGCACT	0.577																																																0													100	105	104					11																	18731076		1974	4152	6126	SO:0001583	missense	283284			AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.2856G>T	chr11.hg19:g.18731076C>A	ENSP00000421191:p.Lys952Asn		A6NNA0|D6RGV7	Missense_Mutation	SNP	ENST00000513874.1	hg19	CCDS41625.2	.	.	.	.	.	.	.	.	.	.	C	13.80	2.345544	0.41498	.	.	ENSG00000179057	ENST00000513874	T	0.56776	0.44	4.39	2.46	0.29980	.	.	.	.	.	T	0.47948	0.1473	N	0.12182	0.205	0.09310	N	0.999997	D	0.69078	0.997	D	0.80764	0.994	T	0.34104	-0.9842	9	0.18276	T	0.48	.	7.069	0.25167	0.0:0.7288:0.1744:0.0969	.	952	D6RGV7	.	N	952	ENSP00000421191:K952N	ENSP00000322422:K851N	K	-	3	2	IGSF22	18687652	0.000000	0.05858	0.578000	0.28575	0.994000	0.84299	-0.453000	0.06778	0.464000	0.27142	0.655000	0.94253	AAG		0.577	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588		A	18731076	C	A	18731076	3	1	687	1	0	0	0	0	1	0	0	0	7602	912	32	4	1148	4	IGSF22	11	18731076	Missense_Mutation	SNP	C	TCGA-IZ-A6M8-01A-11D-A31X-10	12078487	18731076	116275440	32	38015											
GRIN2B	2904	hgsc.bcm.edu	37	12	13768093	13768093	+	Missense_Mutation	SNP	T	T	C			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr12:13768093T>C	ENST00000609686.1	-	7	1818	c.1609A>G	c.(1609-1611)Atg>Gtg	p.M537V		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	537					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)	CGTGACACCATGACACTGATG	0.517																																																0													195	151	166					12																	13768093		2203	4300	6503	SO:0001583	missense	2904				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.1609A>G	chr12.hg19:g.13768093T>C	ENSP00000477455:p.Met537Val		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	hg19	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.266041	0.80358	.	.	ENSG00000150086	ENST00000279593	T	0.22134	1.97	6.17	6.17	0.99709	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.42720	0.1215	L	0.53780	1.695	0.80722	D	1	D	0.76494	0.999	D	0.67382	0.951	T	0.21655	-1.0239	10	0.87932	D	0	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	537	Q13224	NMDE2_HUMAN	V	537	ENSP00000279593:M537V	ENSP00000279593:M537V	M	-	1	0	GRIN2B	13659360	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.035000	0.88872	2.371000	0.80710	0.533000	0.62120	ATG		0.517	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			C	13768093	T	C	13768093	3	2	687	1	0	0	0	0	1	0	0	0	6782	1464	51	3	2873	3	GRIN2B	12	13768093	Missense_Mutation	SNP	T	TCGA-IZ-A6M8-01A-11D-A31X-10		13768093	120083802	33	38016											
AMHR2	269	hgsc.bcm.edu	37	12	53825014	53825014	+	Missense_Mutation	SNP	A	A	T			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr12:53825014A>T	ENST00000257863.4	+	11	1559	c.1479A>T	c.(1477-1479)gaA>gaT	p.E493D	AMHR2_ENST00000550311.1_3'UTR|AMHR2_ENST00000379791.3_Missense_Mutation_p.E398D	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	493	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)	CAGACCCAGAAGCACGGCTGA	0.607																																																0													88	84	86					12																	53825014		2203	4300	6503	SO:0001583	missense	269			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.1479A>T	chr12.hg19:g.53825014A>T	ENSP00000257863:p.Glu493Asp		A0AVE1|B9EGB7|E9PGD2|F8W1D2|Q13762|Q647K2	Missense_Mutation	SNP	ENST00000257863.4	hg19	CCDS8858.1	.	.	.	.	.	.	.	.	.	.	A	19.53	3.844229	0.71488	.	.	ENSG00000135409	ENST00000257863;ENST00000379791	T;D	0.93659	-0.22;-3.26	4.86	3.72	0.42706	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.38959	N	0.001503	D	0.92512	0.7622	N	0.25094	0.71	0.29470	N	0.857082	D	0.76494	0.999	D	0.80764	0.994	D	0.87493	0.2428	10	0.62326	D	0.03	.	8.3026	0.32023	0.9085:0.0:0.0915:0.0	.	493	Q16671	AMHR2_HUMAN	D	493;398	ENSP00000257863:E493D;ENSP00000369117:E398D	ENSP00000257863:E493D	E	+	3	2	AMHR2	52111281	0.998000	0.40836	0.998000	0.56505	0.971000	0.66376	0.443000	0.21644	0.998000	0.38996	0.460000	0.39030	GAA		0.607	AMHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407048.1	NM_020547		T	53825014	A	T	53825014	3	4	687	1	0	0	0	0	1	0	0	0	573	69	3	5	1521	5	AMHR2	12	53825014	Missense_Mutation	SNP	A	TCGA-IZ-A6M8-01A-11D-A31X-10	40056921	53825014	80026881	34	38017											
TARBP2	8620	hgsc.bcm.edu	37	12	53899840	53899840	+	IGR	SNP	T	T	C			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr12:53899840T>C	ENST00000267017.3	-	0	592				TARBP2_ENST00000266987.2_Missense_Mutation_p.C337R|TARBP2_ENST00000456234.2_Missense_Mutation_p.C316R|TARBP2_ENST00000552857.1_3'UTR|TARBP2_ENST00000394357.2_Missense_Mutation_p.C316R	NM_003717.2	NP_003708.1	O15130	NPFF_HUMAN	neuropeptide FF-amide peptide precursor						acute inflammatory response to antigenic stimulus (GO:0002438)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of appetite (GO:0032099)|negative regulation of heart rate (GO:0010459)|negative regulation of insulin secretion (GO:0046676)|neuropeptide signaling pathway (GO:0007218)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane depolarization (GO:0003254)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|response to morphine (GO:0043278)|somatostatin secretion (GO:0070253)|spinal cord development (GO:0021510)|synaptic transmission (GO:0007268)|vasopressin secretion (GO:0030103)	axon terminus (GO:0043679)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|perikaryon (GO:0043204)|vesicle (GO:0031982)	receptor binding (GO:0005102)			haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3						GGCCACTGTGTGTCATGGCTC	0.632																																																0													48	44	46					12																	53899840		2203	4300	6503	SO:0001628	intergenic_variant	6895			AF005271	CCDS8862.1	12q13.13	2013-02-26			ENSG00000139574	ENSG00000139574		"Endogenous ligands"	7901	protein-coding gene	gene with protein product		604643				9224703	Standard	NM_003717		Approved	FMRFAL	uc001sdw.1	O15130	OTTHUMG00000169856		chr12.hg19:g.53899840T>C			Q3SXL4	Missense_Mutation	SNP	ENST00000267017.3	hg19	CCDS8862.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.437352	0.83885	.	.	ENSG00000139546	ENST00000266987;ENST00000456234;ENST00000394357	D;D;D	0.82255	-1.59;-1.59;-1.59	5.15	5.15	0.70609	Double-stranded RNA-binding (2);	0.000000	0.85682	D	0.000000	D	0.91047	0.7183	M	0.83223	2.63	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	D	0.92199	0.5766	10	0.66056	D	0.02	-6.1074	14.2562	0.66053	0.0:0.0:0.0:1.0	.	337	Q15633	TRBP2_HUMAN	R	337;316;316	ENSP00000266987:C337R;ENSP00000416077:C316R;ENSP00000377885:C316R	ENSP00000266987:C337R	C	+	1	0	TARBP2	52186107	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.900000	0.63252	2.075000	0.62263	0.402000	0.26972	TGT		0.632	NPFF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406301.1	NM_003717		C	53899840	T	C	53899840	1	2	687	0	1	0	0	0	0	0	0	0	15561	1696	59	3		3	TARBP2	12	53899840	IGR	SNP	T	TCGA-IZ-A6M8-01A-11D-A31X-10	74826	53899840	79952055	35	38018											
MON2	23041	hgsc.bcm.edu	37	12	62931886	62931886	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr12:62931886delG	ENST00000393632.2	+	17	2520	c.2129delG	c.(2128-2130)tggfs	p.W710fs	MON2_ENST00000552738.1_Frame_Shift_Del_p.W687fs|MON2_ENST00000552115.1_Frame_Shift_Del_p.W710fs|MON2_ENST00000393630.3_Frame_Shift_Del_p.W710fs|MON2_ENST00000546600.1_Frame_Shift_Del_p.W710fs|MON2_ENST00000280379.6_Frame_Shift_Del_p.W710fs|MON2_ENST00000393629.2_Frame_Shift_Del_p.W710fs	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	710					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)		CATCTTGTGTGGATTCTGGGA	0.353																																																0													43	49	47					12																	62931886		2202	4300	6502	SO:0001589	frameshift_variant	23041				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.2129delG	chr12.hg19:g.62931886delG	ENSP00000377252:p.Trp710fs		A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Frame_Shift_Del	DEL	ENST00000393632.2	hg19	CCDS31849.1																																																																																				0.353	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3	NM_015026		-	62931886	G	-	62931886	7	5	687	1	0	1	0	1	0	0	0	0	9702	1357	47	0	2195	0	MON2	12	62931886	Frame_Shift_Del	DEL	G	TCGA-IZ-A6M8-01A-11D-A31X-10	9032046	62931886	70920009	36	38019											
SBNO1	55206	hgsc.bcm.edu	37	12	123815855	123815855	+	Missense_Mutation	SNP	C	C	G			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr12:123815855C>G	ENST00000602398.1	-	8	1104	c.977G>C	c.(976-978)gGa>gCa	p.G326A	SBNO1_ENST00000420886.2_Missense_Mutation_p.G326A|SBNO1_ENST00000602750.1_Missense_Mutation_p.G325A|SBNO1_ENST00000267176.4_Missense_Mutation_p.G325A			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	326					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CCTTCCTTTTCCTACACCGGC	0.408																																																0													152	138	143					12																	123815855		2203	4300	6503	SO:0001583	missense	55206			AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"sno, strawberry notch homolog 1 (Drosophila)"				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.977G>C	chr12.hg19:g.123815855C>G	ENSP00000473665:p.Gly326Ala		Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	ENST00000602398.1	hg19	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	C	32	5.164386	0.94727	.	.	ENSG00000139697	ENST00000420886;ENST00000267176;ENST00000442601	D;D	0.99940	-8.38;-8.38	5.83	5.83	0.93111	Helicase/UvrB domain (1);	0.000000	0.85682	D	0.000000	D	0.99955	0.9981	H	0.96015	3.755	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.999	D;D;D	0.91635	0.999;0.993;0.998	D	0.96352	0.9259	10	0.87932	D	0	-27.8907	20.1218	0.97964	0.0:1.0:0.0:0.0	.	326;325;324	A3KN83;A3KN83-2;A3KN83-3	SBNO1_HUMAN;.;.	A	326;325;325	ENSP00000387361:G326A;ENSP00000267176:G325A	ENSP00000267176:G325A	G	-	2	0	SBNO1	122381808	1.000000	0.71417	0.958000	0.39756	0.998000	0.95712	7.794000	0.85869	2.763000	0.94921	0.561000	0.74099	GGA		0.408	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		G	123815855	C	G	123815855	3	3	687	1	0	0	0	0	1	0	0	0	13868	855	30	4	3304	4	SBNO1	12	123815855	Missense_Mutation	SNP	C	TCGA-IZ-A6M8-01A-11D-A31X-10	60883969	123815855	10036040	37	38020											
ABHD13	84945	hgsc.bcm.edu	37	13	108882148	108882149	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr13:108882148_108882149GG>TT	ENST00000375898.3	+	2	883_884	c.582_583GG>TT	c.(580-585)ttGGgt>ttTTgt	p.194_195LG>FC		NM_032859.2	NP_116248.2	Q7L211	ABHDD_HUMAN	abhydrolase domain containing 13	194						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)					GCCGTTCCTTGGGTGGAGCAGT	0.406																																					Pancreas(22;506 789 38166 45896 51596)											0																																										SO:0001583	missense	84945			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	Exception_encountered	chr13.hg19:g.108882148_108882149delinsTT	ENSP00000365063:p.L194_G195delinsFC		B3KWE7|Q8NBW1|Q96JX9	Missense_Mutation	SNP	ENST00000375898.3	hg19	CCDS32007.1																																																																																				0.406	ABHD13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045743.1	NM_032859		TT	108882149	GG	TT	108882148	3	4	687	1	0	0	0	0	1	0	0	0	78	1339	47	4	584	4	ABHD13	13	108882148	Missense_Mutation	DNP	GG	TCGA-IZ-A6M8-01A-11D-A31X-10		108882148	6287730	38	38021											
SNX6	58533	hgsc.bcm.edu	37	14	35062293	35062293	+	Missense_Mutation	SNP	C	C	A			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr14:35062293C>A	ENST00000362031.4	-	8	742	c.712G>T	c.(712-714)Gat>Tat	p.D238Y	SNX6_ENST00000396526.3_Missense_Mutation_p.D110Y|SNX6_ENST00000355110.5_Missense_Mutation_p.D114Y|SNX6_ENST00000396534.3_Missense_Mutation_p.D110Y	NM_152233.2	NP_689419.2	Q9UNH7	SNX6_HUMAN	sorting nexin 6	226					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)		GCAGATGCATCCTTAACTCGG	0.299																																																0													75	74	74					14																	35062293		2202	4298	6500	SO:0001583	missense	58533			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.712G>T	chr14.hg19:g.35062293C>A	ENSP00000355217:p.Asp238Tyr		C0H5W9|Q9Y449	Missense_Mutation	SNP	ENST00000362031.4	hg19	CCDS41942.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.345615	0.82022	.	.	ENSG00000129515	ENST00000396526;ENST00000396534;ENST00000362031;ENST00000355110;ENST00000557265	T;T;T;T;T	0.54071	1.5;1.5;1.5;1.5;0.59	4.69	4.69	0.59074	Vps5 C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.75317	0.3833	M	0.82630	2.6	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.80360	-0.1415	10	0.87932	D	0	-17.283	17.6053	0.88036	0.0:1.0:0.0:0.0	.	114;226	B4DJS7;Q9UNH7	.;SNX6_HUMAN	Y	110;110;238;114;201	ENSP00000379779:D110Y;ENSP00000379785:D110Y;ENSP00000355217:D238Y;ENSP00000347230:D114Y;ENSP00000452577:D201Y	ENSP00000347230:D114Y	D	-	1	0	SNX6	34132044	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.993000	0.76245	2.340000	0.79590	0.561000	0.74099	GAT		0.299	SNX6-002	KNOWN	downstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276642.3			A	35062293	C	A	35062293	3	1	687	1	0	0	0	0	1	0	0	0	14912	855	30	4	572	4	SNX6	14	35062293	Missense_Mutation	SNP	C	TCGA-IZ-A6M8-01A-11D-A31X-10		35062293	72287247	39	38022											
LTBP2	4053	hgsc.bcm.edu	37	14	75019017	75019017	+	Silent	SNP	C	C	G			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr14:75019017C>G	ENST00000261978.4	-	6	1658	c.1272G>C	c.(1270-1272)ggG>ggC	p.G424G	LTBP2_ENST00000557425.1_Intron|LTBP2_ENST00000556690.1_Silent_p.G424G|CTD-2207P18.1_ENST00000554552.1_lincRNA	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	424	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)		GGCAGAACTTCCCGGTGGAGT	0.652																																																0													39	41	40					14																	75019017		2203	4300	6503	SO:0001819	synonymous_variant	4053				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.1272G>C	chr14.hg19:g.75019017C>G			Q99907|Q9NS51	Silent	SNP	ENST00000261978.4	hg19	CCDS9831.1																																																																																				0.652	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		G	75019017	C	G	75019017	2	3	687	1	0	0	0	0	0	0	0	1	9076	842	30	4		4	LTBP2	14	75019017	Silent	SNP	C	TCGA-IZ-A6M8-01A-11D-A31X-10	39956724	75019017	32330523	40	38023											
TJP1	7082	hgsc.bcm.edu	37	15	30019082	30019082	+	Silent	SNP	T	T	G			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr15:30019082T>G	ENST00000346128.6	-	17	2688	c.2214A>C	c.(2212-2214)acA>acC	p.T738T	TJP1_ENST00000400011.2_Silent_p.T742T|RP11-680F8.4_ENST00000560740.1_RNA|TJP1_ENST00000545208.2_Silent_p.T738T|TJP1_ENST00000356107.6_Silent_p.T738T	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	738	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				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)		TCATTCTCATTGTTTTTACTC	0.363																																					Melanoma(77;681 1843 6309 6570)											0													161	147	151					15																	30019082		1861	4096	5957	SO:0001819	synonymous_variant	7082				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.2214A>C	chr15.hg19:g.30019082T>G			B4E3K1|Q2NKP3|Q4ZGJ6	Silent	SNP	ENST00000346128.6	hg19	CCDS42007.1																																																																																				0.363	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257		G	30019082	T	G	30019082	2	3	687	1	0	0	0	0	0	0	0	1	15934	1799	63	5		5	TJP1	15	30019082	Silent	SNP	T	TCGA-IZ-A6M8-01A-11D-A31X-10		30019082	72512310	41	38024											
HMG20A	10363	hgsc.bcm.edu	37	15	77750833	77750833	+	Silent	SNP	C	C	G			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr15:77750833C>G	ENST00000381714.3	+	3	512	c.84C>G	c.(82-84)acC>acG	p.T28T	HMG20A_ENST00000336216.4_Silent_p.T28T	NM_018200.2	NP_060670.1	Q9NP66	HM20A_HUMAN	high mobility group 20A	28					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|negative regulation of neuron differentiation (GO:0045665)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						ATCTGGCTACCACTGGGTAAG	0.453																																																0													92	88	89					15																	77750833		2196	4294	6490	SO:0001819	synonymous_variant	10363			AF146222	CCDS10295.1	15q24	2011-07-01	2011-04-05		ENSG00000140382	ENSG00000140382		"High mobility group / Non-canonical"	5001	protein-coding gene	gene with protein product	"HMG box domain containing 1"	605534	"high-mobility group 20A"			10773667	Standard	NM_018200		Approved	HMGX1, FLJ10739, HMGXB1	uc002bcr.3	Q9NP66	OTTHUMG00000143729	ENST00000381714.3:c.84C>G	chr15.hg19:g.77750833C>G			A6NHY3|D3DW78|Q53G31|Q9NSF6	Silent	SNP	ENST00000381714.3	hg19	CCDS10295.1																																																																																				0.453	HMG20A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419512.2	NM_018200		G	77750833	C	G	77750833	2	3	687	1	0	0	0	0	0	0	0	1	7223	581	21	4		4	HMG20A	15	77750833	Silent	SNP	C	TCGA-IZ-A6M8-01A-11D-A31X-10	47731751	77750833	24780559	42	38025											
MEFV	4210	hgsc.bcm.edu	37	16	3304171	3304171	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr16:3304171delT	ENST00000219596.1	-	2	936	c.897delA	c.(895-897)gaafs	p.E299fs	MEFV_ENST00000536379.1_Intron|MEFV_ENST00000541159.1_Intron|MEFV_ENST00000339854.4_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	299					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						tgacCGAATGTTCTGGATTTC	0.562																																																0													53	56	55					16																	3304171		2197	4300	6497	SO:0001589	frameshift_variant	4210			AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"Tripartite motif containing / Tripartite motif containing"	6998	protein-coding gene	gene with protein product	"pyrin"	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.897delA	chr16.hg19:g.3304171delT	ENSP00000219596:p.Glu299fs		D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Frame_Shift_Del	DEL	ENST00000219596.1	hg19	CCDS10498.1																																																																																				0.562	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		-	3304171	T	-	3304171	7	5	687	1	0	1	0	1	0	0	0	0	9461	1722	60	0	1484	0	MEFV	16	3304171	Frame_Shift_Del	DEL	T	TCGA-IZ-A6M8-01A-11D-A31X-10		3304171	87050582	43	38026											
APOB48R	55911	hgsc.bcm.edu	37	16	28509637	28509637	+	Missense_Mutation	SNP	C	C	G			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr16:28509637C>G	ENST00000431282.1	+	4	3174	c.3164C>G	c.(3163-3165)cCg>cGg	p.P1055R	CLN3_ENST00000567160.1_5'Flank|APOBR_ENST00000564831.1_Missense_Mutation_p.P1064R|APOBR_ENST00000328423.5_Intron|CLN3_ENST00000569430.1_5'Flank			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	1055					cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GATGGGACCCCGGTGCCAGCC	0.672																																																0													16	21	19					16																	28509637		1941	4148	6089	SO:0001583	missense	55911			AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"apolipoprotein B48 receptor", "apolipoprotein B100 receptor"	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83		ENST00000431282.1:c.3164C>G	chr16.hg19:g.28509637C>G	ENSP00000416094:p.Pro1055Arg		H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Missense_Mutation	SNP	ENST00000431282.1	hg19		.	.	.	.	.	.	.	.	.	.	C	13.49	2.251925	0.39797	.	.	ENSG00000184730	ENST00000431282	T	0.61742	0.08	4.84	4.84	0.62591	.	.	.	.	.	T	0.62962	0.2471	L	0.34521	1.04	0.34997	D	0.755616	D;D	0.71674	0.998;0.998	D;D	0.64687	0.928;0.928	T	0.69026	-0.5254	8	.	.	.	-4.4525	13.4548	0.61193	0.0:1.0:0.0:0.0	.	1055;1055	Q0VD83;Q9NS13	APOBR_HUMAN;.	R	1055	ENSP00000416094:P1055R	.	P	+	2	0	APOBR	28417138	0.950000	0.32346	0.996000	0.52242	0.736000	0.42039	2.535000	0.45685	2.236000	0.73375	0.457000	0.33378	CCG		0.672	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_182804		G	28509637	C	G	28509637	3	3	687	1	0	0	0	0	1	0	0	0	786	652	23	4	3178	4	APOB48R	16	28509637	Missense_Mutation	SNP	C	TCGA-IZ-A6M8-01A-11D-A31X-10	25205466	28509637	61845116	44	38027											
SF3B3	23450	hgsc.bcm.edu	37	16	70605581	70605581	+	Silent	SNP	G	G	A			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr16:70605581G>A	ENST00000302516.5	+	26	3730	c.3519G>A	c.(3517-3519)gtG>gtA	p.V1173V		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	1173					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				CTTAGAATGTGATTGATGGAG	0.428																																																0													51	48	49					16																	70605581		2198	4300	6498	SO:0001819	synonymous_variant	23450			AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"splicing factor 3b, subunit 3, 130kD"			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.3519G>A	chr16.hg19:g.70605581G>A			Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Silent	SNP	ENST00000302516.5	hg19	CCDS10894.1																																																																																				0.428	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1	NM_012426		A	70605581	G	A	70605581	2	1	687	1	0	0	0	0	0	0	0	1	14158	1277	45	2		2	SF3B3	16	70605581	Silent	SNP	G	TCGA-IZ-A6M8-01A-11D-A31X-10	42095944	70605581	19749172	45	38028											
C17orf39	79018	hgsc.bcm.edu	37	17	17962263	17962263	+	Missense_Mutation	SNP	T	T	A			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr17:17962263T>A	ENST00000268719.4	+	4	861	c.688T>A	c.(688-690)Tac>Aac	p.Y230N		NM_024052.4	NP_076957.3	Q8IVV7	GID4_HUMAN	GID complex subunit 4	230																	GAATGGAGACTACGTCTTCAT	0.458																																																0													75	68	71					17																	17962263		2203	4300	6503	SO:0001583	missense	79018			AK127580	CCDS11190.1	17p11.2	2013-07-31	2013-07-31	2012-07-20	ENSG00000141034	ENSG00000141034			28453	protein-coding gene	gene with protein product	"vacuolar import and degradation 24"		"chromosome 17 open reading frame 39", "GID complex subunit 4, VID24 homolog (S. cerevisiae)"	C17orf39		11997338	Standard	NM_024052		Approved	VID24	uc002gsg.1	Q8IVV7	OTTHUMG00000059398	ENST00000268719.4:c.688T>A	chr17.hg19:g.17962263T>A	ENSP00000268719:p.Tyr230Asn		Q8TEB5|Q9BW50	Missense_Mutation	SNP	ENST00000268719.4	hg19	CCDS11190.1	.	.	.	.	.	.	.	.	.	.	T	15.99	2.995621	0.54147	.	.	ENSG00000141034	ENST00000268719	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.55862	0.1947	L	0.48642	1.525	0.80722	D	1	B	0.24317	0.101	B	0.20184	0.028	T	0.51387	-0.8712	9	0.23302	T	0.38	-15.1166	16.1549	0.81657	0.0:0.0:0.0:1.0	.	230	Q8IVV7	CQ039_HUMAN	N	230	.	ENSP00000268719:Y230N	Y	+	1	0	C17orf39	17902988	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.797000	0.85911	2.209000	0.71365	0.533000	0.62120	TAC		0.458	GID4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132071.2	NM_024052		A	17962263	T	A	17962263	3	1	687	1	0	0	0	0	1	0	0	0	1857	1522	53	5	702	5	C17orf39	17	17962263	Missense_Mutation	SNP	T	TCGA-IZ-A6M8-01A-11D-A31X-10		17962263	63232947	46	38029											
TOP2A	7153	hgsc.bcm.edu	37	17	38562843	38562844	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr17:38562843_38562844insT	ENST00000423485.1	-	15	1993_1994	c.1835_1836insA	c.(1834-1836)tatfs	p.Y612fs		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	612					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)	AACCTTTGTAATATTTGACTTT	0.317																																																0																																										SO:0001589	frameshift_variant	7153				CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"topoisomerase (DNA) II alpha (170kD)"	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.1836dupA	chr17.hg19:g.38562844_38562844dupT	ENSP00000411532:p.Tyr612fs		B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Frame_Shift_Ins	INS	ENST00000423485.1	hg19	CCDS45672.1																																																																																				0.317	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338035.1			T	38562844	-	T	38562843	7	5	687	1	0	1	1	0	0	0	0	0	16370	108	4	0	2843	0	TOP2A	17	38562843	Frame_Shift_Ins	INS	-	TCGA-IZ-A6M8-01A-11D-A31X-10	20600580	38562843	42632367	47	38030											
TEX14	56155	hgsc.bcm.edu	37	17	56676917	56676918	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10	GA	GA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr17:56676917_56676918delGA	ENST00000240361.8	-	14	1891_1892	c.1806_1807delTC	c.(1804-1809)gctcctfs	p.P603fs	TEX14_ENST00000349033.5_Frame_Shift_Del_p.P597fs|TEX14_ENST00000389934.3_Frame_Shift_Del_p.P597fs			Q8IWB6	TEX14_HUMAN	testis expressed 14	603					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)					GCAGGGCAAGGAGCATCTTGAT	0.53																																																0																																										SO:0001589	frameshift_variant	56155			AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"cancer/testis antigen 113"	605792	"testis expressed sequence 14"			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.1806_1807delTC	chr17.hg19:g.56676917_56676918delGA	ENSP00000240361:p.Pro603fs		A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Frame_Shift_Del	DEL	ENST00000240361.8	hg19	CCDS56042.1																																																																																				0.53	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1			-	56676918	GA	-	56676917	7	5	687	1	0	1	0	1	0	0	0	0	15783	1174	41	0	2766	0	TEX14	17	56676917	Frame_Shift_Del	DEL	GA	TCGA-IZ-A6M8-01A-11D-A31X-10	18114074	56676917	24518293	48	38031											
FASN	2194	hgsc.bcm.edu	37	17	80047603	80047603	+	Splice_Site	SNP	C	C	G			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr17:80047603C>G	ENST00000306749.2	-	12	2089		c.e12-1			NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase						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)	CAGGACAAGCCTATGGCAGAG	0.652																																					Colon(59;314 1043 11189 28578 32273)											0													16	15	16					17																	80047603		2171	4272	6443	SO:0001630	splice_region_variant	2194			U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"Short chain dehydrogenase/reductase superfamily / Atypical members"	3594	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 27X, member 1"	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.1871-1G>C	chr17.hg19:g.80047603C>G			Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Splice_Site	SNP	ENST00000306749.2	hg19	CCDS11801.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.865470	0.51588	.	.	ENSG00000169710	ENST00000306749	.	.	.	4.4	4.4	0.53042	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9623	0.86275	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FASN	77640892	1.000000	0.71417	0.168000	0.22838	0.067000	0.16453	5.505000	0.66981	1.997000	0.58415	0.561000	0.74099	.		0.652	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104	Intron	G	80047603	C	G	80047603	5	3	687	1	0	0	0	0	0	0	1	0	5685	695	24	4	5793	4	FASN	17	80047603	Splice_Site	SNP	C	TCGA-IZ-A6M8-01A-11D-A31X-10	23370686	80047603	1147607	49	38032											
ANKRD29	147463	hgsc.bcm.edu	37	18	21214112	21214112	+	Splice_Site	DEL	T	T	-			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr18:21214112delT	ENST00000592179.1	-	5	486	c.332delA	c.(331-333)gac>gc	p.D111fs	ANKRD29_ENST00000284207.7_Splice_Site_p.D111fs|ANKRD29_ENST00000322980.9_Splice_Site_p.D111fs	NM_173505.2	NP_775776.2	Q8N6D5	ANR29_HUMAN	ankyrin repeat domain 29	111										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)					GGTGCCCCCGTCCTATGGACA	0.498																																																0													74	59	64					18																	21214112		2203	4300	6503	SO:0001630	splice_region_variant	147463			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.331-1A>-	chr18.hg19:g.21214112delT			B2R972|Q6ZWE8|Q96LU9	Frame_Shift_Del	DEL	ENST00000592179.1	hg19	CCDS11879.1																																																																																				0.498	ANKRD29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254825.1	NM_173505	Frame_Shift_Del	-	21214112	T	-	21214112	8	5	687	1	0	1	0	1	0	0	1	0	657	1681	58	0	597	0	ANKRD29	18	21214112	Splice_Site	DEL	T	TCGA-IZ-A6M8-01A-11D-A31X-10		21214112	56863136	50	38033											
MUC16	94025	hgsc.bcm.edu	37	19	9057871	9057871	+	Missense_Mutation	SNP	G	G	A			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr19:9057871G>A	ENST00000397910.4	-	3	29778	c.29575C>T	c.(29575-29577)Cct>Tct	p.P9859S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9861	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						GAGAAGGCAGGATTTGATGTG	0.478																																																0													147	138	141					19																	9057871		1987	4169	6156	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.29575C>T	chr19.hg19:g.9057871G>A	ENSP00000381008:p.Pro9859Ser		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	hg19	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	3.787	-0.044427	0.07452	.	.	ENSG00000181143	ENST00000397910	T	0.26223	1.75	2.62	0.396	0.16309	.	.	.	.	.	T	0.23330	0.0564	N	0.14661	0.345	.	.	.	D	0.54207	0.965	P	0.59703	0.862	T	0.26503	-1.0101	8	0.87932	D	0	.	3.8274	0.08859	0.1494:0.2545:0.5961:0.0	.	9859	B5ME49	.	S	9859	ENSP00000381008:P9859S	ENSP00000381008:P9859S	P	-	1	0	MUC16	8918871	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-1.124000	0.03260	0.181000	0.19994	-1.109000	0.02080	CCT		0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	9057871	G	A	9057871	3	1	687	1	0	0	0	0	1	0	0	0	9975	1174	41	2	14276	2	MUC16	19	9057871	Missense_Mutation	SNP	G	TCGA-IZ-A6M8-01A-11D-A31X-10		9057871	50071112	51	38034											
ZNF45	7596	hgsc.bcm.edu	37	19	44419046	44419046	+	Missense_Mutation	SNP	A	A	C			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr19:44419046A>C	ENST00000269973.5	-	10	1632	c.542T>G	c.(541-543)aTt>aGt	p.I181S	ZNF45_ENST00000589703.1_Missense_Mutation_p.I181S|RP11-15A1.2_ENST00000586247.1_RNA	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	181					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						CCTTTGGTTAATTTGAAGATG	0.443																																																0													126	128	127					19																	44419046		2203	4300	6503	SO:0001583	missense	7596			M67509	CCDS12632.1	19q13.2	2013-01-08	2005-01-11			ENSG00000124459		"Zinc fingers, C2H2-type", "-"	13111	protein-coding gene	gene with protein product		194554	"zinc finger protein 45 (a Kruppel-associated box (KRAB) domain polypeptide)", "zinc finger protein 13"	ZNF13		9067431	Standard	NM_003425		Approved		uc002oxw.2	Q02386		ENST00000269973.5:c.542T>G	chr19.hg19:g.44419046A>C	ENSP00000269973:p.Ile181Ser		P17016|P78472|Q9P1U9	Missense_Mutation	SNP	ENST00000269973.5	hg19	CCDS12632.1	.	.	.	.	.	.	.	.	.	.	A	6.279	0.419509	0.11928	.	.	ENSG00000124459	ENST00000269973;ENST00000328762	T	0.15139	2.45	3.91	-3.04	0.05412	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	2.004110	0.02863	N	0.130523	T	0.07279	0.0184	N	0.13299	0.325	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.18178	-1.0345	10	0.08179	T	0.78	0.9799	0.481	0.00547	0.3318:0.133:0.2741:0.2611	.	181	Q02386	ZNF45_HUMAN	S	181	ENSP00000269973:I181S	ENSP00000269973:I181S	I	-	2	0	ZNF45	49110886	0.000000	0.05858	0.000000	0.03702	0.251000	0.25915	-5.448000	0.00121	-0.856000	0.04120	0.260000	0.18958	ATT		0.443	ZNF45-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459919.1	NM_003425		C	44419046	A	C	44419046	3	2	687	1	0	0	0	0	1	0	0	0	17926	101	4	5	1510	5	ZNF45	19	44419046	Missense_Mutation	SNP	A	TCGA-IZ-A6M8-01A-11D-A31X-10	35361175	44419046	14709937	52	38035											
ZNF534	147658	hgsc.bcm.edu	37	19	52941044	52941044	+	Missense_Mutation	SNP	T	T	A			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr19:52941044T>A	ENST00000332323.6	+	4	431	c.370T>A	c.(370-372)Tta>Ata	p.L124I	ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000433050.1_Missense_Mutation_p.L111I	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	124					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)|lung(1)|prostate(1)|skin(1)	4						TCAACATGGATTAACTCTTCA	0.353																																																0													71	60	63					19																	52941044		1568	3582	5150	SO:0001583	missense	147658			AK058073	CCDS46165.1, CCDS46166.1	19q13.41	2013-01-08	2004-02-06	2004-02-11	ENSG00000198633	ENSG00000198633		"Zinc fingers, C2H2-type", "-"	26337	protein-coding gene	gene with protein product			"KRAB domain only 3"	KRBO3			Standard	NM_001143938		Approved	FLJ25344	uc002pzk.3	Q76KX8	OTTHUMG00000156493	ENST00000332323.6:c.370T>A	chr19.hg19:g.52941044T>A	ENSP00000327538:p.Leu124Ile		Q76KX9	Missense_Mutation	SNP	ENST00000332323.6	hg19	CCDS46165.1	.	.	.	.	.	.	.	.	.	.	T	9.193	1.026520	0.19512	.	.	ENSG00000198633	ENST00000332323;ENST00000433050;ENST00000391790	T;T	0.07444	3.19;3.23	1.69	1.69	0.24217	.	.	.	.	.	T	0.11750	0.0286	M	0.62723	1.935	0.09310	N	1	P;P	0.44344	0.833;0.524	P;B	0.45276	0.475;0.095	T	0.14309	-1.0477	9	0.45353	T	0.12	.	6.6481	0.22947	0.0:0.0:0.0:1.0	.	111;124	Q76KX8-2;Q76KX8	.;ZN534_HUMAN	I	124;111;123	ENSP00000327538:L124I;ENSP00000391358:L111I	ENSP00000327538:L124I	L	+	1	2	ZNF534	57632856	0.001000	0.12720	0.012000	0.15200	0.302000	0.27658	-0.032000	0.12266	0.751000	0.32900	0.172000	0.16884	TTA		0.353	ZNF534-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460877.1	NM_182512		A	52941044	T	A	52941044	3	1	687	1	0	0	0	0	1	0	0	0	17978	1490	52	5	384	5	ZNF534	19	52941044	Missense_Mutation	SNP	T	TCGA-IZ-A6M8-01A-11D-A31X-10	8521998	52941044	6187939	53	38036											
CRNKL1	51340	hgsc.bcm.edu	37	20	20033152	20033152	+	Silent	SNP	G	G	A	rs140622884		TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr20:20033152G>A	ENST00000377340.2	-	2	349	c.318C>T	c.(316-318)gcC>gcT	p.A106A	C20orf26_ENST00000245957.5_5'Flank|CRNKL1_ENST00000377327.4_Silent_p.A94A|C20orf26_ENST00000377309.2_5'Flank|C20orf26_ENST00000389656.3_5'Flank|C20orf26_ENST00000377306.1_5'Flank|CRNKL1_ENST00000536226.1_5'Flank	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	106					mRNA splicing, via spliceosome (GO:0000398)|spliceosomal complex assembly (GO:0000245)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						CCGTGACGGAGGCGGCACCGT	0.607																																																0								G		1,4405	2.1+/-5.4	0,1,2202	74	70	71		318	-9	0	20	dbSNP_134	71	0,8600		0,0,4300	no	coding-synonymous	CRNKL1	NM_016652.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		106/849	20033152	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51340			AF255443	CCDS33446.1, CCDS63238.1, CCDS63239.1	20p11.2	2013-10-03	2013-10-03		ENSG00000101343	ENSG00000101343			15762	protein-coding gene	gene with protein product	"SYF3 pre-mRNA-splicing factor"	610952	"crooked neck (Drosophila Crn homolog)-like 1", "Crn, crooked neck-like 1 (Drosophila)", "crooked neck pre-mRNA splicing factor-like 1 (Drosophila)"				Standard	NM_016652		Approved	CRN, CLF, SYF3, Clf1	uc002wrs.3	Q9BZJ0	OTTHUMG00000032000	ENST00000377340.2:c.318C>T	chr20.hg19:g.20033152G>A			A8K9T4|Q5JY64|Q8WYI5|Q9BZI9|Q9BZJ1|Q9BZJ2|Q9GZW7|Q9H8F8|Q9NQH5|Q9NYD8	Silent	SNP	ENST00000377340.2	hg19	CCDS33446.1																																																																																				0.607	CRNKL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000127787.1			A	20033152	G	A	20033152	2	1	687	1	0	0	0	0	0	0	0	1	3893	987	35	2		2	CRNKL1	20	20033152	Silent	SNP	G	TCGA-IZ-A6M8-01A-11D-A31X-10		20033152	42992368	54	38037											
TM9SF4	9777	hgsc.bcm.edu	37	20	30730877	30730877	+	Silent	SNP	C	C	T			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr20:30730877C>T	ENST00000398022.2	+	6	856	c.621C>T	c.(619-621)ttC>ttT	p.F207F	TM9SF4_ENST00000217315.5_Silent_p.F190F	NM_014742.3	NP_055557.2	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	207						integral component of membrane (GO:0016021)				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TCGTCCGCTTCGAGGTGATTC	0.597																																																0													151	107	122					20																	30730877		2203	4300	6503	SO:0001819	synonymous_variant	9777			BC021107	CCDS13196.2	20q11.21	2004-04-19			ENSG00000101337	ENSG00000101337			30797	protein-coding gene	gene with protein product						9039502	Standard	NM_014742		Approved	KIAA0255, dJ836N17.2	uc002wxj.2	Q92544	OTTHUMG00000032206	ENST00000398022.2:c.621C>T	chr20.hg19:g.30730877C>T			B0QYT7|Q9NUA3	Silent	SNP	ENST00000398022.2	hg19	CCDS13196.2																																																																																				0.597	TM9SF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323568.1	NM_014742		T	30730877	C	T	30730877	2	4	687	1	0	0	0	0	0	0	0	1	15985	883	31	1		1	TM9SF4	20	30730877	Silent	SNP	C	TCGA-IZ-A6M8-01A-11D-A31X-10	10697725	30730877	32294643	55	38038											
ATP7A	538	hgsc.bcm.edu	37	X	77268391	77268391	+	Missense_Mutation	SNP	T	T	A			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chrX:77268391T>A	ENST00000341514.6	+	10	2343	c.2188T>A	c.(2188-2190)Tac>Aac	p.Y730N	ATP7A_ENST00000343533.5_Intron|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	730					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)	CGGAGGCTGGTACTTCTACAT	0.343																																																0													139	122	127					X																	77268391		2203	4296	6499	SO:0001583	missense	538			L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"ATPases / P-type"	869	protein-coding gene	gene with protein product	"copper pump 1", "copper-transporting ATPase 1"	300011	"Menkes syndrome"	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.2188T>A	chrX.hg19:g.77268391T>A	ENSP00000345728:p.Tyr730Asn		B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	ENST00000341514.6	hg19	CCDS35339.1	.	.	.	.	.	.	.	.	.	.	T	17.13	3.309564	0.60414	.	.	ENSG00000165240	ENST00000341514	T	0.75938	-0.98	5.64	-1.38	0.09027	.	0.505078	0.21943	N	0.066860	T	0.73345	0.3575	L	0.51422	1.61	0.80722	D	1	P	0.38729	0.644	P	0.48654	0.585	T	0.71629	-0.4535	10	0.59425	D	0.04	-15.6701	11.7399	0.51786	0.0:0.5586:0.0:0.4414	.	730	Q04656	ATP7A_HUMAN	N	730	ENSP00000345728:Y730N	ENSP00000345728:Y730N	Y	+	1	0	ATP7A	77155047	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	0.785000	0.26830	-0.249000	0.09569	0.381000	0.24937	TAC		0.343	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052		A	77268391	T	A	77268391	3	1	687	1	0	0	0	0	1	0	0	0	1190	1638	57	5	2222	5	ATP7A	23	77268391	Missense_Mutation	SNP	T	TCGA-IZ-A6M8-01A-11D-A31X-10		77268391	78002169	56	38039											
CLSTN1	22883	hgsc.bcm.edu	37	1	9809529	9809529	+	Silent	SNP	G	G	A			TCGA-IZ-A6M9-01A-11D-A31X-10	TCGA-IZ-A6M9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0541b2e4-13f8-4845-a6ba-6dfde158bc09	558c1803-c4c2-42cb-82cb-f3e277bf9beb	g.chr1:9809529G>A	ENST00000377298.4	-	7	1767	c.975C>T	c.(973-975)caC>caT	p.H325H	CLSTN1_ENST00000361311.4_Silent_p.H315H|CLSTN1_ENST00000377288.3_Silent_p.H325H	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	325					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)|calcium ion binding (GO:0005509)|kinesin binding (GO:0019894)|X11-like protein binding (GO:0042988)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		CACAGAGCCGGTGGAGGGACT	0.557																																																0													100	102	101					1																	9809529		2203	4300	6503	SO:0001819	synonymous_variant	22883			AB020718	CCDS105.1, CCDS30580.1	1p36.22	2011-07-01			ENSG00000171603	ENSG00000171603		"Cadherins / Cadherin-related"	17447	protein-coding gene	gene with protein product	"cadherin-related family member 12"	611321				10048485	Standard	XM_005263432		Approved	CSTN1, KIAA0911, CDHR12	uc001aqh.3	O94985	OTTHUMG00000001451	ENST00000377298.4:c.975C>T	chr1.hg19:g.9809529G>A			A8K183|Q5SR52|Q5UE58|Q71MN0|Q8N4K9	Silent	SNP	ENST00000377298.4	hg19	CCDS30580.1																																																																																				0.557	CLSTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004239.1			A	9809529	G	A	9809529	2	1	688	1	0	0	0	0	0	0	0	1	3563	1252	44	2		2	CLSTN1	1	9809529	Silent	SNP	G	TCGA-IZ-A6M9-01A-11D-A31X-10		9809529	239441092	1	38040											
CSDE1	7812	hgsc.bcm.edu	37	1	115277116	115277116	+	Missense_Mutation	SNP	T	T	A	rs200868850		TCGA-IZ-A6M9-01A-11D-A31X-10	TCGA-IZ-A6M9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0541b2e4-13f8-4845-a6ba-6dfde158bc09	558c1803-c4c2-42cb-82cb-f3e277bf9beb	g.chr1:115277116T>A	ENST00000358528.4	-	7	955	c.529A>T	c.(529-531)Atg>Ttg	p.M177L	CSDE1_ENST00000369530.1_Missense_Mutation_p.M192L|CSDE1_ENST00000438362.2_Missense_Mutation_p.M223L|CSDE1_ENST00000339438.6_Missense_Mutation_p.M146L|CSDE1_ENST00000261443.5_Missense_Mutation_p.M146L|CSDE1_ENST00000534699.1_Missense_Mutation_p.M177L|CSDE1_ENST00000530886.1_Missense_Mutation_p.M47L	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	177	CSD 2; truncated.				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)		TTCAACAGCATAATGTTGCGA	0.388																																																0													80	80	80					1																	115277116		2203	4300	6503	SO:0001583	missense	7812				CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307			29905	protein-coding gene	gene with protein product	"upstream of NRAS"	191510				2204029, 10048485	Standard	NM_007158		Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000358528.4:c.529A>T	chr1.hg19:g.115277116T>A	ENSP00000351329:p.Met177Leu		A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Missense_Mutation	SNP	ENST00000358528.4	hg19	CCDS30812.1	.	.	.	.	.	.	.	.	.	.	T	15.16	2.752407	0.49362	.	.	ENSG00000009307	ENST00000339438;ENST00000438362;ENST00000358528;ENST00000261443;ENST00000530886;ENST00000369530;ENST00000534699;ENST00000529046	.	.	.	5.82	4.67	0.58626	Nucleic acid-binding, OB-fold-like (1);	0.141721	0.64402	D	0.000006	T	0.42337	0.1198	L	0.29908	0.895	0.36744	D	0.882387	B;B;B	0.29805	0.04;0.0;0.257	B;B;P	0.44623	0.008;0.0;0.455	T	0.48198	-0.9056	9	0.42905	T	0.14	-0.4958	13.0463	0.58928	0.0:0.0:0.1344:0.8656	.	192;177;223	E9PGZ0;O75534;G5E9Q2	.;CSDE1_HUMAN;.	L	146;223;177;146;47;192;177;47	.	ENSP00000261443:M146L	M	-	1	0	CSDE1	115078639	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.781000	0.55394	0.999000	0.39023	0.460000	0.39030	ATG		0.388	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033397.1	NM_007158		A	115277116	T	A	115277116	3	1	688	1	0	0	0	0	1	0	0	0	3931	1406	49	5	1923	5	CSDE1	1	115277116	Missense_Mutation	SNP	T	TCGA-IZ-A6M9-01A-11D-A31X-10	105467587	115277116	133973505	2	38041											
RPRD2	23248	hgsc.bcm.edu	37	1	150443766	150443766	+	Missense_Mutation	SNP	A	A	C			TCGA-IZ-A6M9-01A-11D-A31X-10	TCGA-IZ-A6M9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0541b2e4-13f8-4845-a6ba-6dfde158bc09	558c1803-c4c2-42cb-82cb-f3e277bf9beb	g.chr1:150443766A>C	ENST00000369068.4	+	11	2346	c.2342A>C	c.(2341-2343)gAg>gCg	p.E781A	RPRD2_ENST00000539519.1_Missense_Mutation_p.E755A|RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000401000.4_Missense_Mutation_p.E755A	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	781	Ser-rich.					DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TACCCCCGAGAGCTCTCCAAT	0.498																																																0													84	79	81					1																	150443766		1895	4111	6006	SO:0001583	missense	23248			BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"KIAA0460"	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.2342A>C	chr1.hg19:g.150443766A>C	ENSP00000358064:p.Glu781Ala		A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Missense_Mutation	SNP	ENST00000369068.4	hg19	CCDS44216.1	.	.	.	.	.	.	.	.	.	.	A	18.04	3.534839	0.64972	.	.	ENSG00000163125	ENST00000401000;ENST00000539519;ENST00000369068	T;T;T	0.53206	0.63;0.63;0.63	5.21	5.21	0.72293	.	0.000000	0.64402	D	0.000001	T	0.22781	0.0550	N	0.24115	0.695	0.32162	N	0.582853	B;P;P	0.46784	0.319;0.816;0.884	B;B;B	0.40477	0.048;0.177;0.33	T	0.14035	-1.0487	10	0.59425	D	0.04	-7.9453	15.2872	0.73835	1.0:0.0:0.0:0.0	.	755;781;755	B4E2Q6;Q5VT52;Q5VT52-3	.;RPRD2_HUMAN;.	A	755;755;781	ENSP00000383785:E755A;ENSP00000445482:E755A;ENSP00000358064:E781A	ENSP00000358064:E781A	E	+	2	0	RPRD2	148710390	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.543000	0.73874	2.194000	0.70268	0.529000	0.55759	GAG		0.498	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203		C	150443766	A	C	150443766	3	2	688	1	0	0	0	0	1	0	0	0	13623	304	11	5	2384	5	RPRD2	1	150443766	Missense_Mutation	SNP	A	TCGA-IZ-A6M9-01A-11D-A31X-10	35166650	150443766	98806855	3	38042											
KIAA1614	57710	hgsc.bcm.edu	37	1	180885446	180885457	+	In_Frame_Del	DEL	TCCCAGGGTATG	TCCCAGGGTATG	-	rs377550267		TCGA-IZ-A6M9-01A-11D-A31X-10	TCGA-IZ-A6M9-10A-01D-A31X-10	TCCCAGGGTATG	TCCCAGGGTATG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0541b2e4-13f8-4845-a6ba-6dfde158bc09	558c1803-c4c2-42cb-82cb-f3e277bf9beb	g.chr1:180885446_180885457delTCCCAGGGTATG	ENST00000367588.4	+	2	262_273	c.207_218delTCCCAGGGTATG	c.(205-219)cctcccagggtatgg>ccg	p.PRVW70del		NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	70										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						CCCCCCAGCCTCCCAGGGTATGGGGAGTACAG	0.599																																																0																																										SO:0001651	inframe_deletion	57710			AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.207_218delTCCCAGGGTATG	chr1.hg19:g.180885446_180885457delTCCCAGGGTATG	ENSP00000356560:p.Pro70_Trp73del		Q5VZ45|Q9HCF8	In_Frame_Del	DEL	ENST00000367588.4	hg19	CCDS41442.1																																																																																				0.599	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	XM_046531		-	180885457	TCCCAGGGTATG	-	180885446	7	5	688	1	0	1	0	1	0	0	0	0	8250	1538	54	0	213	0	KIAA1614	1	180885446	In_Frame_Del	DEL	TCCCAGGGTATG	TCGA-IZ-A6M9-01A-11D-A31X-10	30441680	180885446	68365175	4	38043											
KDM5B	10765	hgsc.bcm.edu	37	1	202701002	202701002	+	Nonsense_Mutation	SNP	A	A	C			TCGA-IZ-A6M9-01A-11D-A31X-10	TCGA-IZ-A6M9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0541b2e4-13f8-4845-a6ba-6dfde158bc09	558c1803-c4c2-42cb-82cb-f3e277bf9beb	g.chr1:202701002A>C	ENST00000367265.3	-	24	5139	c.3975T>G	c.(3973-3975)taT>taG	p.Y1325*	KDM5B_ENST00000367264.2_Nonsense_Mutation_p.Y1361*	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1325					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						GGGAGTGCAAATATGAGGTTC	0.408																																																0													111	106	108					1																	202701002		2203	4300	6503	SO:0001587	stop_gained	10765			AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	18039	protein-coding gene	gene with protein product	"cancer/testis antigen 31", "protein phosphatase 1, regulatory subunit 98"	605393	"Jumonji, AT rich interactive domain 1B (RBP2-like)", "jumonji, AT rich interactive domain 1B"	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.3975T>G	chr1.hg19:g.202701002A>C	ENSP00000356234:p.Tyr1325*		O95811|Q15752|Q9Y3Q5	Nonsense_Mutation	SNP	ENST00000367265.3	hg19	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	A	47	13.303743	0.99733	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790	.	.	.	5.78	3.41	0.39046	.	0.229878	0.47093	D	0.000247	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.4004	7.269	0.26246	0.7476:0.1297:0.1226:0.0	.	.	.	.	X	1325;1167;1361;1167	.	ENSP00000235790:Y1167X	Y	-	3	2	KDM5B	200967625	0.999000	0.42202	0.375000	0.26029	0.998000	0.95712	1.112000	0.31172	1.096000	0.41439	0.533000	0.62120	TAT		0.408	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618		C	202701002	A	C	202701002	4	2	688	1	0	0	0	0	0	1	0	0	8136	108	4	5	675	5	KDM5B	1	202701002	Nonsense_Mutation	SNP	A	TCGA-IZ-A6M9-01A-11D-A31X-10	21815556	202701002	46549619	5	38044											
PLXNA2	5362	hgsc.bcm.edu	37	1	208234136	208234136	+	Missense_Mutation	SNP	A	A	T			TCGA-IZ-A6M9-01A-11D-A31X-10	TCGA-IZ-A6M9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0541b2e4-13f8-4845-a6ba-6dfde158bc09	558c1803-c4c2-42cb-82cb-f3e277bf9beb	g.chr1:208234136A>T	ENST00000367033.3	-	13	3390	c.2633T>A	c.(2632-2634)aTc>aAc	p.I878N		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	878	IPT/TIG 1.				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)		CACGCCATGGATGGTCACTCG	0.582																																																0													64	59	60					1																	208234136		2203	4300	6503	SO:0001583	missense	5362			X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"Plexins"	9100	protein-coding gene	gene with protein product	"plexin 2", "plexin-A2", "semaphorin receptor OCT", "transmembrane protein OCT"	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.2633T>A	chr1.hg19:g.208234136A>T	ENSP00000356000:p.Ile878Asn		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	hg19	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.751914	0.89753	.	.	ENSG00000076356	ENST00000367033	T	0.70869	-0.52	4.75	4.75	0.60458	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.87744	0.6254	H	0.94847	3.59	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	D	0.91215	0.5002	10	0.87932	D	0	.	14.2819	0.66219	1.0:0.0:0.0:0.0	.	878	O75051	PLXA2_HUMAN	N	878	ENSP00000356000:I878N	ENSP00000356000:I878N	I	-	2	0	PLXNA2	206300759	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.956000	0.93066	1.787000	0.52448	0.533000	0.62120	ATC		0.582	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		T	208234136	A	T	208234136	3	4	688	1	0	0	0	0	1	0	0	0	12122	333	12	5	3131	5	PLXNA2	1	208234136	Missense_Mutation	SNP	A	TCGA-IZ-A6M9-01A-11D-A31X-10	5533134	208234136	41016485	6	38045	292	2									
PLXNA2	5362	hgsc.bcm.edu	37	1	208234142	208234142	+	Missense_Mutation	SNP	A	A	G			TCGA-IZ-A6M9-01A-11D-A31X-10	TCGA-IZ-A6M9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0541b2e4-13f8-4845-a6ba-6dfde158bc09	558c1803-c4c2-42cb-82cb-f3e277bf9beb	g.chr1:208234142A>G	ENST00000367033.3	-	13	3384	c.2627T>C	c.(2626-2628)gTg>gCg	p.V876A		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	876	IPT/TIG 1.				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)		ATGGATGGTCACTCGCGTCCC	0.587																																																0													62	57	59					1																	208234142		2203	4300	6503	SO:0001583	missense	5362			X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"Plexins"	9100	protein-coding gene	gene with protein product	"plexin 2", "plexin-A2", "semaphorin receptor OCT", "transmembrane protein OCT"	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.2627T>C	chr1.hg19:g.208234142A>G	ENSP00000356000:p.Val876Ala		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	hg19	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	A	29.5	5.008254	0.93346	.	.	ENSG00000076356	ENST00000367033	T	0.66815	-0.23	4.75	4.75	0.60458	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.81917	0.4924	M	0.91920	3.255	0.80722	D	1	D	0.54397	0.966	P	0.55824	0.785	D	0.86680	0.1916	10	0.87932	D	0	.	14.2819	0.66219	1.0:0.0:0.0:0.0	.	876	O75051	PLXA2_HUMAN	A	876	ENSP00000356000:V876A	ENSP00000356000:V876A	V	-	2	0	PLXNA2	206300765	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.956000	0.93066	1.787000	0.52448	0.533000	0.62120	GTG		0.587	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		G	208234142	A	G	208234142	3	3	688	1	0	0	0	0	1	0	0	0	12122	159	6	3	3137	3	PLXNA2	1	208234142	Missense_Mutation	SNP	A	TCGA-IZ-A6M9-01A-11D-A31X-10	6	208234142	41016479	7	38046	292	2									
PTPN14	5784	hgsc.bcm.edu	37	1	214557537	214557537	+	Missense_Mutation	SNP	C	C	T			TCGA-IZ-A6M9-01A-11D-A31X-10	TCGA-IZ-A6M9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0541b2e4-13f8-4845-a6ba-6dfde158bc09	558c1803-c4c2-42cb-82cb-f3e277bf9beb	g.chr1:214557537C>T	ENST00000366956.5	-	13	1855	c.1661G>A	c.(1660-1662)aGc>aAc	p.S554N	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	554					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)		GTGGGCCGTGCTGTAGTTATG	0.632																																					Colon(92;557 1424 24372 34121 40073)											0													67	69	68					1																	214557537		2203	4300	6503	SO:0001583	missense	5784			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.1661G>A	chr1.hg19:g.214557537C>T	ENSP00000355923:p.Ser554Asn		Q5VSI0	Missense_Mutation	SNP	ENST00000366956.5	hg19	CCDS1514.1	.	.	.	.	.	.	.	.	.	.	C	5.545	0.285458	0.10513	.	.	ENSG00000152104	ENST00000366956	T	0.67523	-0.27	5.51	-1.94	0.07571	.	0.544215	0.22141	N	0.064056	T	0.36635	0.0974	N	0.11560	0.145	0.28282	N	0.923954	B	0.02656	0.0	B	0.01281	0.0	T	0.21759	-1.0236	10	0.14252	T	0.57	.	6.8274	0.23891	0.113:0.4191:0.0:0.468	.	554	Q15678	PTN14_HUMAN	N	554	ENSP00000355923:S554N	ENSP00000355923:S554N	S	-	2	0	PTPN14	212624160	0.001000	0.12720	0.056000	0.19401	0.764000	0.43329	-0.747000	0.04823	-0.259000	0.09432	0.650000	0.86243	AGC		0.632	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		T	214557537	C	T	214557537	3	4	688	1	0	0	0	0	1	0	0	0	12789	797	28	2	1930	2	PTPN14	1	214557537	Missense_Mutation	SNP	C	TCGA-IZ-A6M9-01A-11D-A31X-10	6323395	214557537	34693084	8	38047											
DNAJC5G	285126	hgsc.bcm.edu	37	2	27500675	27500675	+	Missense_Mutation	SNP	T	T	A			TCGA-IZ-A6M9-01A-11D-A31X-10	TCGA-IZ-A6M9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0541b2e4-13f8-4845-a6ba-6dfde158bc09	558c1803-c4c2-42cb-82cb-f3e277bf9beb	g.chr2:27500675T>A	ENST00000296097.3	+	4	585	c.167T>A	c.(166-168)cTg>cAg	p.L56Q	DNAJC5G_ENST00000404433.1_Missense_Mutation_p.L40Q|SLC30A3_ENST00000447008.2_5'Flank|DNAJC5G_ENST00000406962.1_Intron|DNAJC5G_ENST00000402462.1_Missense_Mutation_p.L56Q	NM_173650.1	NP_775921.1	Q8N7S2	DNJ5G_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 gamma	56	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.					membrane (GO:0016020)				cervix(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTAGGAAACTGGCCTTGCGG	0.488																																																0													107	102	104					2																	27500675		2203	4300	6503	SO:0001583	missense	285126			AF368277	CCDS1744.1	2p23	2011-09-02			ENSG00000163793	ENSG00000163793		"Heat shock proteins / DNAJ (HSP40)"	24844	protein-coding gene	gene with protein product		613946					Standard	NM_173650		Approved	FLJ40417, CSP-gamma	uc002rjl.1	Q8N7S2	OTTHUMG00000097079	ENST00000296097.3:c.167T>A	chr2.hg19:g.27500675T>A	ENSP00000296097:p.Leu56Gln		B4DY29|Q53SY5|Q8IYQ4|Q96RJ8	Missense_Mutation	SNP	ENST00000296097.3	hg19	CCDS1744.1	.	.	.	.	.	.	.	.	.	.	T	17.86	3.492169	0.64074	.	.	ENSG00000163793	ENST00000296097;ENST00000402462;ENST00000404433	T;T;T	0.46819	0.86;0.86;0.86	5.09	5.09	0.68999	Heat shock protein DnaJ, N-terminal (5);	0.000000	0.40554	N	0.001066	T	0.65780	0.2724	M	0.69248	2.105	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69247	-0.5195	10	0.72032	D	0.01	.	12.8356	0.57771	0.0:0.0:0.0:1.0	.	56	Q8N7S2	DNJ5G_HUMAN	Q	56;56;40	ENSP00000296097:L56Q;ENSP00000384305:L56Q;ENSP00000385829:L40Q	ENSP00000296097:L56Q	L	+	2	0	DNAJC5G	27354179	1.000000	0.71417	1.000000	0.80357	0.243000	0.25628	7.834000	0.86773	1.926000	0.55796	0.455000	0.32223	CTG		0.488	DNAJC5G-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214200.1	NM_173650		A	27500675	T	A	27500675	3	1	688	1	0	0	0	0	1	0	0	0	4654	1580	55	5	173	5	DNAJC5G	2	27500675	Missense_Mutation	SNP	T	TCGA-IZ-A6M9-01A-11D-A31X-10		27500675	215698698	9	38048											
POTEE	445582	hgsc.bcm.edu	37	2	131976330	131976330	+	Missense_Mutation	SNP	G	G	A			TCGA-IZ-A6M9-01A-11D-A31X-10	TCGA-IZ-A6M9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0541b2e4-13f8-4845-a6ba-6dfde158bc09	558c1803-c4c2-42cb-82cb-f3e277bf9beb	g.chr2:131976330G>A	ENST00000356920.5	+	1	449	c.355G>A	c.(355-357)Gct>Act	p.A119T	PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.A119T	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	119					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											CAAGGTGGGCGCTTGGGGAGA	0.597																																																0													121	119	120					2																	131976330		2203	4300	6503	SO:0001583	missense	445582			AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33895	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 2"	608914	"ANKRD26-like family C, member 1A"	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.355G>A	chr2.hg19:g.131976330G>A	ENSP00000439189:p.Ala119Thr		Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	hg19	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	9.510	1.105419	0.20632	.	.	ENSG00000188219	ENST00000356920;ENST00000358087	T;T	0.76839	-1.05;1.61	0.399	0.399	0.16325	.	.	.	.	.	T	0.49983	0.1589	N	0.12746	0.255	0.09310	N	1	P	0.52463	0.953	B	0.32149	0.141	T	0.44236	-0.9341	8	0.36615	T	0.2	.	.	.	.	.	119	Q6S8J3	POTEE_HUMAN	T	119	ENSP00000439189:A119T;ENSP00000443049:A119T	ENSP00000439189:A119T	A	+	1	0	AC131180.1	131692800	0.000000	0.05858	0.002000	0.10522	0.009000	0.06853	-0.980000	0.03770	0.440000	0.26502	0.162000	0.16502	GCT		0.597	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		A	131976330	G	A	131976330	3	1	688	1	0	0	0	0	1	0	0	0	12266	1087	38	1	357	1	POTEE	2	131976330	Missense_Mutation	SNP	G	TCGA-IZ-A6M9-01A-11D-A31X-10	104475655	131976330	111223043	10	38049											
GPR39	2863	hgsc.bcm.edu	37	2	133403162	133403162	+	Missense_Mutation	SNP	C	C	A			TCGA-IZ-A6M9-01A-11D-A31X-10	TCGA-IZ-A6M9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0541b2e4-13f8-4845-a6ba-6dfde158bc09	558c1803-c4c2-42cb-82cb-f3e277bf9beb	g.chr2:133403162C>A	ENST00000329321.3	+	2	1814	c.1345C>A	c.(1345-1347)Cag>Aag	p.Q449K	LYPD1_ENST00000397463.2_3'UTR|GPR39_ENST00000470071.1_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	449					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						GAATGGTTTTCAGGAGCATGA	0.532																																																0													54	58	57					2																	133403162		2203	4300	6503	SO:0001583	missense	2863			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.1345C>A	chr2.hg19:g.133403162C>A	ENSP00000327417:p.Gln449Lys		B2RC12|B6V9G4|Q08AS2|Q53R01	Missense_Mutation	SNP	ENST00000329321.3	hg19	CCDS2170.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.834578	0.00579	.	.	ENSG00000183840	ENST00000329321	T	0.65178	-0.14	5.15	3.18	0.36537	.	3.248910	0.01165	N	0.006739	T	0.56992	0.2023	L	0.57536	1.79	0.37755	D	0.926099	B	0.02656	0.0	B	0.01281	0.0	T	0.51741	-0.8667	10	0.16896	T	0.51	.	4.3592	0.11194	0.4322:0.446:0.0:0.1219	.	449	O43194	GPR39_HUMAN	K	449	ENSP00000327417:Q449K	ENSP00000327417:Q449K	Q	+	1	0	GPR39	133119632	0.326000	0.24669	0.628000	0.29241	0.050000	0.14768	0.714000	0.25808	1.393000	0.46605	-0.188000	0.12872	CAG		0.532	GPR39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254582.1			A	133403162	C	A	133403162	3	1	688	1	0	0	0	0	1	0	0	0	6695	827	29	4	1351	4	GPR39	2	133403162	Missense_Mutation	SNP	C	TCGA-IZ-A6M9-01A-11D-A31X-10	1426832	133403162	109796211	11	38050											
NEB	4703	hgsc.bcm.edu	37	2	152382499	152382499	+	Silent	SNP	G	G	A			TCGA-IZ-A6M9-01A-11D-A31X-10	TCGA-IZ-A6M9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0541b2e4-13f8-4845-a6ba-6dfde158bc09	558c1803-c4c2-42cb-82cb-f3e277bf9beb	g.chr2:152382499G>A	ENST00000172853.10	-	122	17178	c.17031C>T	c.(17029-17031)gtC>gtT	p.V5677V	NEB_ENST00000427231.2_Silent_p.V7378V|NEB_ENST00000409198.1_Silent_p.V5677V|NEB_ENST00000397345.3_Silent_p.V7378V|NEB_ENST00000603639.1_Silent_p.V7378V|NEB_ENST00000604864.1_Silent_p.V7378V			P20929	NEBU_HUMAN	nebulin	5677					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)	p.V5677V(1)|p.V7378V(1)		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)		TCACTTCCTTGACGTGAACAG	0.483																																																2	Substitution - coding silent(2)	lung(2)											300	294	296					2																	152382499		2038	4201	6239	SO:0001819	synonymous_variant	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.17031C>T	chr2.hg19:g.152382499G>A			F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	hg19		.	.	.	.	.	.	.	.	.	.	G	10.46	1.355381	0.24512	.	.	ENSG00000183091	ENST00000434685	.	.	.	6.07	5.2	0.72013	.	.	.	.	.	T	0.63885	0.2549	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62756	-0.6787	4	.	.	.	.	12.0778	0.53653	0.0656:0.1214:0.813:0.0	.	.	.	.	L	1	.	.	S	-	2	0	NEB	152090745	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.792000	0.62467	1.582000	0.49881	0.655000	0.94253	TCA		0.483	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		A	152382499	G	A	152382499	2	1	688	1	0	0	0	0	0	0	0	1	10304	1277	45	2		2	NEB	2	152382499	Silent	SNP	G	TCGA-IZ-A6M9-01A-11D-A31X-10	18979337	152382499	90816874	12	38051											
COL3A1	1281	hgsc.bcm.edu	37	2	189867767	189867767	+	Silent	SNP	C	C	T			TCGA-IZ-A6M9-01A-11D-A31X-10	TCGA-IZ-A6M9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0541b2e4-13f8-4845-a6ba-6dfde158bc09	558c1803-c4c2-42cb-82cb-f3e277bf9beb	g.chr2:189867767C>T	ENST00000304636.3	+	36	2702	c.2532C>T	c.(2530-2532)ccC>ccT	p.P844P	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	844	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	TTGCAGGACCCCCTGGAGGTT	0.493																																																0													51	61	58					2																	189867767		2068	4020	6088	SO:0001819	synonymous_variant	1281			X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"Collagens"	2201	protein-coding gene	gene with protein product		120180	"Ehlers-Danlos syndrome type IV, autosomal dominant"	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.2532C>T	chr2.hg19:g.189867767C>T			D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Silent	SNP	ENST00000304636.3	hg19	CCDS2297.1																																																																																				0.493	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		T	189867767	C	T	189867767	2	4	688	1	0	0	0	0	0	0	0	1	3690	610	22	2		2	COL3A1	2	189867767	Silent	SNP	C	TCGA-IZ-A6M9-01A-11D-A31X-10	37485268	189867767	53331606	13	38052											
SCHIP1	100505385	hgsc.bcm.edu	37	3	159606614	159606614	+	Silent	SNP	A	A	T			TCGA-IZ-A6M9-01A-11D-A31X-10	TCGA-IZ-A6M9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0541b2e4-13f8-4845-a6ba-6dfde158bc09	558c1803-c4c2-42cb-82cb-f3e277bf9beb	g.chr3:159606614A>T	ENST00000460298.1	+	6	1321	c.1080A>T	c.(1078-1080)ccA>ccT	p.P360P	SCHIP1_ENST00000482804.1_Silent_p.P173P|IQCJ-SCHIP1_ENST00000337808.6_Silent_p.P400P|IQCJ-SCHIP1_ENST00000476809.1_Silent_p.P449P|IQCJ-SCHIP1_ENST00000527095.1_Silent_p.P168P|IQCJ-SCHIP1_ENST00000485419.1_Silent_p.P476P|SCHIP1_ENST00000445224.2_Silent_p.P157P|IQCJ-SCHIP1_ENST00000412423.2_Silent_p.P387P					IQCJ-SCHIP1 readthrough											central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						TTCAGCTGCCACACATGCCTC	0.433																																																0													138	130	132					3																	159606614		2203	4300	6503	SO:0001819	synonymous_variant	100505385				CCDS56289.1, CCDS56291.1	3q25.33	2011-03-24			ENSG00000250588	ENSG00000250588			38842	other	readthrough							Standard	NM_001197113		Approved		uc003fcq.2		OTTHUMG00000162426	ENST00000460298.1:c.1080A>T	chr3.hg19:g.159606614A>T				Silent	SNP	ENST00000460298.1	hg19																																																																																					0.433	IQCJ-SCHIP1-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000352558.2	NM_001197113		T	159606614	A	T	159606614	2	4	688	1	0	0	0	0	0	0	0	1	13910	146	6	5		5	SCHIP1	3	159606614	Silent	SNP	A	TCGA-IZ-A6M9-01A-11D-A31X-10		159606614	38415816	14	38053											
FAM193A	8603	hgsc.bcm.edu	37	4	2632748	2632748	+	Missense_Mutation	SNP	T	T	A			TCGA-IZ-A6M9-01A-11D-A31X-10	TCGA-IZ-A6M9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0541b2e4-13f8-4845-a6ba-6dfde158bc09	558c1803-c4c2-42cb-82cb-f3e277bf9beb	g.chr4:2632748T>A	ENST00000324666.5	+	3	368	c.17T>A	c.(16-18)cTc>cAc	p.L6H	FAM193A_ENST00000545951.1_Missense_Mutation_p.L6H|FAM193A_ENST00000505311.1_Missense_Mutation_p.L6H|FAM193A_ENST00000382839.3_Missense_Mutation_p.L6H|FAM193A_ENST00000502458.1_Missense_Mutation_p.L6H	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	6										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						GTCCGCCTGCTCCGGCAGCTG	0.632																																																0													42	45	44					4																	2632748		2202	4300	6502	SO:0001583	missense	8603			AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 8"	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.17T>A	chr4.hg19:g.2632748T>A	ENSP00000324587:p.Leu6His		B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Missense_Mutation	SNP	ENST00000324666.5	hg19	CCDS58875.1	.	.	.	.	.	.	.	.	.	.	T	28.0	4.881897	0.91740	.	.	ENSG00000125386	ENST00000509050;ENST00000382839;ENST00000324666;ENST00000545951;ENST00000502458	T;T;T;T	0.53640	0.63;1.02;0.61;0.67	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.65460	0.2693	L	0.59436	1.845	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	0.91635	0.999;0.999;0.999;0.996;0.999	T	0.68534	-0.5383	10	0.87932	D	0	-27.2496	14.8927	0.70620	0.0:0.0:0.0:1.0	.	6;6;6;6;6	B9EGR0;E9PFA1;P78312;B7ZM85;P78312-2	.;.;F193A_HUMAN;.;.	H	6	ENSP00000372290:L6H;ENSP00000324587:L6H;ENSP00000443617:L6H;ENSP00000427505:L6H	ENSP00000324587:L6H	L	+	2	0	FAM193A	2602546	1.000000	0.71417	0.996000	0.52242	0.879000	0.50718	7.680000	0.84062	2.108000	0.64289	0.533000	0.62120	CTC		0.632	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1	NM_003704		A	2632748	T	A	2632748	3	1	688	1	0	0	0	0	1	0	0	0	5526	1551	54	5	19	5	FAM193A	4	2632748	Missense_Mutation	SNP	T	TCGA-IZ-A6M9-01A-11D-A31X-10		2632748	188521528	15	38054											
LNX1	84708	hgsc.bcm.edu	37	4	54343069	54343069	+	Silent	SNP	T	T	C	rs151307935		TCGA-IZ-A6M9-01A-11D-A31X-10	TCGA-IZ-A6M9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0541b2e4-13f8-4845-a6ba-6dfde158bc09	558c1803-c4c2-42cb-82cb-f3e277bf9beb	g.chr4:54343069T>C	ENST00000263925.7	-	9	2057	c.1743A>G	c.(1741-1743)acA>acG	p.T581T	LNX1_ENST00000306888.2_Silent_p.T485T|FIP1L1_ENST00000507166.1_Intron	NM_001126328.2	NP_001119800.1	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	581	PDZ 3. {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)			TCGAGGATGATGTTCTTTTCA	0.512																																																0													180	180	180					4																	54343069		2203	4300	6503	SO:0001819	synonymous_variant	84708			AF237782	CCDS3492.1, CCDS47057.1	4q12	2013-01-09	2012-02-23	2005-11-04	ENSG00000072201	ENSG00000072201		"RING-type (C3HC4) zinc fingers"	6657	protein-coding gene	gene with protein product		609732	"ligand of numb-protein X", "ligand of numb-protein X 1"	LNX		11521506, 11782429	Standard	NM_032622		Approved	MPDZ, PDZRN2	uc003hag.5	Q8TBB1	OTTHUMG00000102099	ENST00000263925.7:c.1743A>G	chr4.hg19:g.54343069T>C			Q4W5K7|Q8N4C2|Q96MJ7|Q9BY20	Silent	SNP	ENST00000263925.7	hg19	CCDS47057.1																																																																																				0.512	LNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219934.2			C	54343069	T	C	54343069	2	2	688	1	0	0	0	0	0	0	0	1	8867	1451	51	3		3	LNX1	4	54343069	Silent	SNP	T	TCGA-IZ-A6M9-01A-11D-A31X-10	51710321	54343069	136811207	16	38055											
CEP135	9662	hgsc.bcm.edu	37	4	56876035	56876035	+	Missense_Mutation	SNP	A	A	G	rs148279836		TCGA-IZ-A6M9-01A-11D-A31X-10	TCGA-IZ-A6M9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0541b2e4-13f8-4845-a6ba-6dfde158bc09	558c1803-c4c2-42cb-82cb-f3e277bf9beb	g.chr4:56876035A>G	ENST00000257287.4	+	19	2595	c.2471A>G	c.(2470-2472)cAa>cGa	p.Q824R		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	824					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					AGAAGACTGCAAGATGACCTG	0.388																																																0								A	ARG/GLN	1,4405	2.1+/-5.4	0,1,2202	83	82	82		2471	5.5	1	4	dbSNP_134	82	0,8600		0,0,4300	no	missense	CEP135	NM_025009.3	43	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	probably-damaging	824/1141	56876035	1,13005	2203	4300	6503	SO:0001583	missense	9662			AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"KIAA0635", "centrosomal protein 4"	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.2471A>G	chr4.hg19:g.56876035A>G	ENSP00000257287:p.Gln824Arg		B2RMY0|O75130|Q58F25|Q9H8H7	Missense_Mutation	SNP	ENST00000257287.4	hg19	CCDS33986.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.375961	0.82682	2.27E-4	0.0	ENSG00000174799	ENST00000257287	T	0.09911	2.93	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.30854	0.0778	M	0.66939	2.045	0.58432	D	0.999998	D	0.89917	1.0	D	0.85130	0.997	T	0.01508	-1.1337	10	0.28530	T	0.3	.	15.8895	0.79286	1.0:0.0:0.0:0.0	.	824	Q66GS9	CP135_HUMAN	R	824	ENSP00000257287:Q824R	ENSP00000257287:Q824R	Q	+	2	0	CEP135	56570792	1.000000	0.71417	0.999000	0.59377	0.951000	0.60555	8.565000	0.90730	2.207000	0.71202	0.533000	0.62120	CAA		0.388	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2	NM_025009		G	56876035	A	G	56876035	3	3	688	1	0	0	0	0	1	0	0	0	3249	130	5	3	2541	3	CEP135	4	56876035	Missense_Mutation	SNP	A	TCGA-IZ-A6M9-01A-11D-A31X-10	2532966	56876035	134278241	17	38056											
DNAH8	1769	hgsc.bcm.edu	37	6	38825504	38825504	+	Missense_Mutation	SNP	A	A	G			TCGA-IZ-A6M9-01A-11D-A31X-10	TCGA-IZ-A6M9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0541b2e4-13f8-4845-a6ba-6dfde158bc09	558c1803-c4c2-42cb-82cb-f3e277bf9beb	g.chr6:38825504A>G	ENST00000359357.3	+	40	5547	c.5293A>G	c.(5293-5295)Att>Gtt	p.I1765V	DNAH8_ENST00000449981.2_Missense_Mutation_p.I1982V|DNAH8_ENST00000441566.1_Missense_Mutation_p.I1765V			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1765					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						TCAGAGAGATATTTTTGATGA	0.308																																																0													110	106	107					6																	38825504		2203	4300	6503	SO:0001583	missense	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.5293A>G	chr6.hg19:g.38825504A>G	ENSP00000352312:p.Ile1765Val		O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	hg19		.	.	.	.	.	.	.	.	.	.	A	21.7	4.181365	0.78677	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.20332	2.09;2.09;2.08	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.21590	0.0520	L	0.46670	1.46	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.06862	-1.0803	10	0.02654	T	1	.	16.0707	0.80928	1.0:0.0:0.0:0.0	.	1765	Q96JB1	DYH8_HUMAN	V	1970;1970;1765;1765	ENSP00000333363:I1970V;ENSP00000352312:I1765V;ENSP00000402294:I1765V	ENSP00000333363:I1970V	I	+	1	0	DNAH8	38933482	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.271000	0.95698	2.194000	0.70268	0.533000	0.62120	ATT		0.308	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		G	38825504	A	G	38825504	3	3	688	1	0	0	0	0	1	0	0	0	4609	449	16	3	5443	3	DNAH8	6	38825504	Missense_Mutation	SNP	A	TCGA-IZ-A6M9-01A-11D-A31X-10		38825504	132289563	18	38057											
EZR	7430	hgsc.bcm.edu	37	6	159188095	159188095	+	Missense_Mutation	SNP	G	G	C	rs367907031		TCGA-IZ-A6M9-01A-11D-A31X-10	TCGA-IZ-A6M9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0541b2e4-13f8-4845-a6ba-6dfde158bc09	558c1803-c4c2-42cb-82cb-f3e277bf9beb	g.chr6:159188095G>C	ENST00000367075.3	-	14	1780	c.1612C>G	c.(1612-1614)Ctg>Gtg	p.L538V	EZR_ENST00000337147.7_Missense_Mutation_p.L538V|EZR_ENST00000392177.4_Missense_Mutation_p.L506V|MIR3918_ENST00000581555.1_RNA	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	538	Interaction with SCYL3.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of endothelial barrier (GO:0061028)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|filopodium assembly (GO:0046847)|leukocyte cell-cell adhesion (GO:0007159)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|receptor internalization (GO:0031623)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|astrocyte projection (GO:0097449)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell tip (GO:0051286)|ciliary basal body (GO:0036064)|cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|microspike (GO:0044393)|microvillus (GO:0005902)|microvillus membrane (GO:0031528)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|Schwann cell microvillus (GO:0097454)|T-tubule (GO:0030315)|uropod (GO:0001931)|vesicle (GO:0031982)	actin filament binding (GO:0051015)|cell adhesion molecule binding (GO:0050839)|poly(A) RNA binding (GO:0044822)		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		GCCTGGGACAGCTCGCTGCTC	0.562			T	ROS1	NSCLC																																		Dom	yes		6	6q25.3	7430	ezrin		E	0													180	157	165					6																	159188095		2203	4300	6503	SO:0001583	missense	7430			AF187552	CCDS5258.1	6q25.3	2010-12-10	2007-11-29	2007-11-29	ENSG00000092820	ENSG00000092820		"A-kinase anchor proteins"	12691	protein-coding gene	gene with protein product	"cytovillin 2"	123900	"villin 2 (ezrin)"	VIL2			Standard	NM_003379		Approved		uc003qrt.4	P15311	OTTHUMG00000015917	ENST00000367075.3:c.1612C>G	chr6.hg19:g.159188095G>C	ENSP00000356042:p.Leu538Val		E1P5A8|P23714|Q4VX75|Q96CU8|Q9NSJ4	Missense_Mutation	SNP	ENST00000367075.3	hg19	CCDS5258.1	.	.	.	.	.	.	.	.	.	.	G	19.03	3.747324	0.69533	.	.	ENSG00000092820	ENST00000337147;ENST00000367075;ENST00000392177	D;D;D	0.88586	-2.4;-2.4;-2.4	5.37	0.447	0.16608	Moesin (1);Ezrin/radixin/moesin, C-terminal (1);	0.067471	0.64402	D	0.000011	D	0.92074	0.7488	M	0.87617	2.895	0.58432	D	0.999996	D;D	0.71674	0.998;0.989	D;D	0.75484	0.986;0.976	D	0.91442	0.5174	10	0.87932	D	0	.	9.9553	0.41663	0.3142:0.0:0.6858:0.0	.	506;538	E7EQR4;P15311	.;EZRI_HUMAN	V	538;538;506	ENSP00000338934:L538V;ENSP00000356042:L538V;ENSP00000376016:L506V	ENSP00000338934:L538V	L	-	1	2	EZR	159108083	1.000000	0.71417	0.995000	0.50966	0.980000	0.70556	3.249000	0.51437	0.007000	0.14760	0.561000	0.74099	CTG		0.562	EZR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042878.1	NM_003379		C	159188095	G	C	159188095	3	2	688	1	0	0	0	0	1	0	0	0	5337	962	34	4	152	4	EZR	6	159188095	Missense_Mutation	SNP	G	TCGA-IZ-A6M9-01A-11D-A31X-10	120362591	159188095	11926972	19	38058											
TBP	6908	hgsc.bcm.edu	37	6	170871004	170871004	+	Silent	SNP	G	G	A			TCGA-IZ-A6M9-01A-11D-A31X-10	TCGA-IZ-A6M9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0541b2e4-13f8-4845-a6ba-6dfde158bc09	558c1803-c4c2-42cb-82cb-f3e277bf9beb	g.chr6:170871004G>A	ENST00000392092.2	+	3	459	c.180G>A	c.(178-180)caG>caA	p.Q60Q	TBP_ENST00000540980.1_Silent_p.Q40Q|TBP_ENST00000230354.6_Silent_p.Q60Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	60	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)		Ggcagcagcagcaacaacaac	0.542																																																0													43	45	44					6																	170871004		2203	4300	6503	SO:0001819	synonymous_variant	6908			M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"General transcription factors"	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.180G>A	chr6.hg19:g.170871004G>A			B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	hg19	CCDS5315.1																																																																																				0.542	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		A	170871004	G	A	170871004	2	1	688	1	0	0	0	0	0	0	0	1	15649	962	34	2		2	TBP	6	170871004	Silent	SNP	G	TCGA-IZ-A6M9-01A-11D-A31X-10	11682909	170871004	244063	20	38059											
AUTS2	26053	hgsc.bcm.edu	37	7	70255844	70255844	+	Silent	SNP	A	A	G			TCGA-IZ-A6M9-01A-11D-A31X-10	TCGA-IZ-A6M9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0541b2e4-13f8-4845-a6ba-6dfde158bc09	558c1803-c4c2-42cb-82cb-f3e277bf9beb	g.chr7:70255844A>G	ENST00000342771.4	+	19	3963	c.3642A>G	c.(3640-3642)acA>acG	p.T1214T	AUTS2_ENST00000406775.2_Silent_p.T1190T	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	1214										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)		CCCCTCCGACAGCAGCGCTGA	0.672																																																0													41	45	43					7																	70255844		2203	4299	6502	SO:0001819	synonymous_variant	26053			AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.3642A>G	chr7.hg19:g.70255844A>G			A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Silent	SNP	ENST00000342771.4	hg19	CCDS5539.1																																																																																				0.672	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			G	70255844	A	G	70255844	2	3	688	1	0	0	0	0	0	0	0	1	1225	175	7	3		3	AUTS2	7	70255844	Silent	SNP	A	TCGA-IZ-A6M9-01A-11D-A31X-10		70255844	88882819	21	38060											
MTFR1	9650	hgsc.bcm.edu	37	8	66617127	66617127	+	Missense_Mutation	SNP	A	A	C			TCGA-IZ-A6M9-01A-11D-A31X-10	TCGA-IZ-A6M9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0541b2e4-13f8-4845-a6ba-6dfde158bc09	558c1803-c4c2-42cb-82cb-f3e277bf9beb	g.chr8:66617127A>C	ENST00000262146.4	+	5	606	c.480A>C	c.(478-480)aaA>aaC	p.K160N	MTFR1_ENST00000458689.2_Missense_Mutation_p.K127N|MTFR1_ENST00000517944.1_3'UTR	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1	160					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)			AGATTGCCAAAATTGTGACCC	0.458																																																0													27	28	27					8																	66617127		2203	4300	6503	SO:0001583	missense	9650				CCDS6182.1, CCDS55240.1	8q13.1	2012-11-30							29510	protein-coding gene	gene with protein product	"likely ortholog of chicken chondrocyte protein with a poly proline region"					7584026, 7584028, 15389597	Standard	NM_014637		Approved	CHPPR, KIAA0009, FAM54A2	uc003xvn.2	Q15390		ENST00000262146.4:c.480A>C	chr8.hg19:g.66617127A>C	ENSP00000262146:p.Lys160Asn		E7EP84|Q6IB94|Q7Z669|Q86XH5|Q8IVD7	Missense_Mutation	SNP	ENST00000262146.4	hg19	CCDS6182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.72|19.72	3.879273|3.879273	0.72294|0.72294	.|.	.|.	ENSG00000066855|ENSG00000066855	ENST00000518609;ENST00000262146;ENST00000458689|ENST00000518800	T;T|T	0.50813|0.49432	0.73;0.73|0.78	5.24|5.24	1.59|1.59	0.23543|0.23543	.|.	0.095465|0.095465	0.64402|0.64402	D|D	0.000001|0.000001	T|T	0.59932|0.59932	0.2230|0.2230	M|M	0.84683|0.84683	2.71|2.71	0.44789|0.44789	D|D	0.997793|0.997793	P;D;D;D|.	0.76494|.	0.947;0.992;0.998;0.999|.	P;D;D;D|.	0.74674|.	0.905;0.954;0.94;0.984|.	T|T	0.56044|0.56044	-0.8044|-0.8044	10|8	0.42905|0.41790	T|T	0.14|0.15	-28.337|-28.337	7.9704|7.9704	0.30124|0.30124	0.6814:0.0:0.3186:0.0|0.6814:0.0:0.3186:0.0	.|.	160;144;127;160|.	B4E3G8;E5RJS5;E7EP84;Q15390|.	.;.;.;MTFR1_HUMAN|.	N|T	144;160;127|118	ENSP00000262146:K160N;ENSP00000391502:K127N|ENSP00000430621:K118T	ENSP00000262146:K160N|ENSP00000430621:K118T	K|K	+|+	3|2	2|0	MTFR1|MTFR1	66779681|66779681	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.987000|0.987000	0.75469|0.75469	1.601000|1.601000	0.36773|0.36773	0.035000|0.035000	0.15519|0.15519	0.460000|0.460000	0.39030|0.39030	AAA|AAA		0.458	MTFR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378894.1	NM_014637		C	66617127	A	C	66617127	3	2	688	1	0	0	0	0	1	0	0	0	9927	11	1	5	494	5	MTFR1	8	66617127	Missense_Mutation	SNP	A	TCGA-IZ-A6M9-01A-11D-A31X-10		66617127	79746895	22	38061											
SULF1	23213	hgsc.bcm.edu	37	8	70488224	70488224	+	Missense_Mutation	SNP	C	C	G			TCGA-IZ-A6M9-01A-11D-A31X-10	TCGA-IZ-A6M9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0541b2e4-13f8-4845-a6ba-6dfde158bc09	558c1803-c4c2-42cb-82cb-f3e277bf9beb	g.chr8:70488224C>G	ENST00000260128.4	+	6	909	c.192C>G	c.(190-192)aaC>aaG	p.N64K	SULF1_ENST00000419716.3_Missense_Mutation_p.N64K|SULF1_ENST00000458141.2_Missense_Mutation_p.N64K|SULF1_ENST00000402687.4_Missense_Mutation_p.N64K	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	64					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)			AAGTCATGAACAAAACGAGAA	0.522																																																0													80	67	71					8																	70488224		2203	4300	6503	SO:0001583	missense	23213			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.192C>G	chr8.hg19:g.70488224C>G	ENSP00000260128:p.Asn64Lys		Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	ENST00000260128.4	hg19	CCDS6204.1	.	.	.	.	.	.	.	.	.	.	C	11.47	1.648999	0.29336	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000529134;ENST00000402687;ENST00000419716;ENST00000528783;ENST00000525999	D;D;D;D;D;T;D	0.96265	-3.96;-3.96;-3.23;-3.96;-3.96;0.86;-3.96	5.23	2.96	0.34315	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.93861	0.8036	M	0.67397	2.05	0.53688	D	0.999974	B	0.06786	0.001	B	0.10450	0.005	D	0.89996	0.4111	10	0.22109	T	0.4	.	10.5049	0.44828	0.0:0.7019:0.0:0.2981	.	64	Q8IWU6	SULF1_HUMAN	K	64	ENSP00000403040:N64K;ENSP00000260128:N64K;ENSP00000432178:N64K;ENSP00000385704:N64K;ENSP00000390315:N64K;ENSP00000436949:N64K;ENSP00000431753:N64K	ENSP00000260128:N64K	N	+	3	2	SULF1	70650778	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.135000	0.31454	1.123000	0.41961	0.650000	0.86243	AAC		0.522	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		G	70488224	C	G	70488224	3	3	688	1	0	0	0	0	1	0	0	0	15375	477	17	4	198	4	SULF1	8	70488224	Missense_Mutation	SNP	C	TCGA-IZ-A6M9-01A-11D-A31X-10	3871097	70488224	75875798	23	38062											
DPYS	1807	hgsc.bcm.edu	37	8	105393497	105393499	+	In_Frame_Del	DEL	CTT	CTT	-	rs148864394	byFrequency	TCGA-IZ-A6M9-01A-11D-A31X-10	TCGA-IZ-A6M9-10A-01D-A31X-10	CTT	CTT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0541b2e4-13f8-4845-a6ba-6dfde158bc09	558c1803-c4c2-42cb-82cb-f3e277bf9beb	g.chr8:105393497_105393499delCTT	ENST00000351513.2	-	9	1619_1621	c.1487_1489delAAG	c.(1486-1491)gaagtc>gtc	p.E496del	DPYS_ENST00000521601.1_5'UTR	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	496					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)			AGTGTGGCGACTTCTCCCTTATA	0.483																																																0																																										SO:0001651	inframe_deletion	1807			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.1487_1489delAAG	chr8.hg19:g.105393497_105393499delCTT	ENSP00000276651:p.Glu496del			In_Frame_Del	DEL	ENST00000351513.2	hg19	CCDS6302.1																																																																																				0.483	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	NM_001385		-	105393499	CTT	-	105393497	7	5	688	1	0	1	0	1	0	0	0	0	4748	565	20	0	74	0	DPYS	8	105393497	In_Frame_Del	DEL	CTT	TCGA-IZ-A6M9-01A-11D-A31X-10	34905273	105393497	40970525	24	38063											
CSMD3	114788	hgsc.bcm.edu	37	8	114326898	114326898	+	Missense_Mutation	SNP	A	A	C			TCGA-IZ-A6M9-01A-11D-A31X-10	TCGA-IZ-A6M9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0541b2e4-13f8-4845-a6ba-6dfde158bc09	558c1803-c4c2-42cb-82cb-f3e277bf9beb	g.chr8:114326898A>C	ENST00000297405.5	-	2	547	c.303T>G	c.(301-303)aaT>aaG	p.N101K	CSMD3_ENST00000352409.3_Missense_Mutation_p.N101K|CSMD3_ENST00000343508.3_Missense_Mutation_p.N61K|CSMD3_ENST00000455883.2_Missense_Mutation_p.N101K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	101	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.N101N(1)|p.N61N(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						TTTGTATTCTATTTCGTTCTT	0.353										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																						2	Substitution - coding silent(2)	lung(2)											171	162	165					8																	114326898		2203	4300	6503	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.303T>G	chr8.hg19:g.114326898A>C	ENSP00000297405:p.Asn101Lys		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	hg19	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	14.73	2.621352	0.46736	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.27256	1.68;1.68;1.68;1.68	5.72	3.38	0.38709	CUB (5);	0.077066	0.47455	D	0.000223	T	0.24699	0.0599	L	0.28740	0.885	0.28547	N	0.911799	P;P;D;P;B	0.69078	0.827;0.93;0.997;0.77;0.395	B;P;P;B;B	0.61132	0.275;0.526;0.884;0.253;0.341	T	0.09796	-1.0658	10	0.09338	T	0.73	.	4.6113	0.12404	0.5913:0.0:0.4087:0.0	.	101;101;101;101;61	Q7Z407-3;Q7Z407-4;Q7Z407-5;Q7Z407;Q7Z407-2	.;.;.;CSMD3_HUMAN;.	K	61;101;101;101	ENSP00000345799:N61K;ENSP00000297405:N101K;ENSP00000412263:N101K;ENSP00000343124:N101K	ENSP00000297405:N101K	N	-	3	2	CSMD3	114396074	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.778000	0.55371	0.998000	0.38996	0.455000	0.32223	AAT		0.353	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		C	114326898	A	C	114326898	3	2	688	1	0	0	0	0	1	0	0	0	3948	446	16	5	11100	5	CSMD3	8	114326898	Missense_Mutation	SNP	A	TCGA-IZ-A6M9-01A-11D-A31X-10	8933401	114326898	32037124	25	38064											
SIGMAR1	10280	hgsc.bcm.edu	37	9	34637563	34637563	+	Missense_Mutation	SNP	C	C	G			TCGA-IZ-A6M9-01A-11D-A31X-10	TCGA-IZ-A6M9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0541b2e4-13f8-4845-a6ba-6dfde158bc09	558c1803-c4c2-42cb-82cb-f3e277bf9beb	g.chr9:34637563C>G	ENST00000277010.4	-	1	205	c.132G>C	c.(130-132)caG>caC	p.Q44H	SIGMAR1_ENST00000477726.1_Missense_Mutation_p.Q44H|SIGMAR1_ENST00000461426.1_5'UTR|SIGMAR1_ENST00000378892.1_5'UTR	NM_001282208.1|NM_005866.2	NP_001269137.1|NP_005857.1	Q99720	SGMR1_HUMAN	sigma non-opioid intracellular receptor 1	44					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)	GCCGCGCCAACTGCGCTATCT	0.701																																																0													15	18	17					9																	34637563		2195	4292	6487	SO:0001583	missense	10280			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.132G>C	chr9.hg19:g.34637563C>G	ENSP00000277010:p.Gln44His		D3DRM7|O00673|O00725|Q0Z9W6|Q153Z1|Q2TSD1|Q53GN2|Q7Z653|Q8N7H3|Q9NYX0	Missense_Mutation	SNP	ENST00000277010.4	hg19	CCDS6562.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.641021	0.47153	.	.	ENSG00000147955	ENST00000277010;ENST00000477726	T;T	0.64618	-0.11;-0.11	4.7	3.8	0.43715	.	0.332724	0.31519	N	0.007517	T	0.63757	0.2538	L	0.52011	1.625	0.29794	N	0.832985	D;D;P	0.59357	0.958;0.985;0.879	P;P;P	0.52598	0.574;0.703;0.559	T	0.63897	-0.6533	10	0.56958	D	0.05	-7.6325	9.982	0.41819	0.3691:0.6309:0.0:0.0	.	44;44;44	B4DR71;A2A3U5;Q99720	.;.;SGMR1_HUMAN	H	44	ENSP00000277010:Q44H;ENSP00000420022:Q44H	ENSP00000277010:Q44H	Q	-	3	2	SIGMAR1	34627563	0.996000	0.38824	1.000000	0.80357	0.969000	0.65631	1.763000	0.38461	1.194000	0.43101	0.561000	0.74099	CAG		0.701	SIGMAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052204.1	NM_005866		G	34637563	C	G	34637563	3	3	688	1	0	0	0	0	1	0	0	0	14322	564	20	4	555	4	SIGMAR1	9	34637563	Missense_Mutation	SNP	C	TCGA-IZ-A6M9-01A-11D-A31X-10		34637563	106575868	26	38065											
TMOD1	7111	hgsc.bcm.edu	37	9	100286582	100286582	+	Missense_Mutation	SNP	G	G	A			TCGA-IZ-A6M9-01A-11D-A31X-10	TCGA-IZ-A6M9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0541b2e4-13f8-4845-a6ba-6dfde158bc09	558c1803-c4c2-42cb-82cb-f3e277bf9beb	g.chr9:100286582G>A	ENST00000259365.4	+	2	325	c.112G>A	c.(112-114)Gac>Aac	p.D38N	TMOD1_ENST00000395211.2_Missense_Mutation_p.D38N	NM_003275.3	NP_003266.1	P28289	TMOD1_HUMAN	tropomodulin 1	38					adult locomotory behavior (GO:0008344)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)	cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|membrane (GO:0016020)|myofibril (GO:0030016)		p.D38N(1)		breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1)	11		Acute lymphoblastic leukemia(62;0.154)		STAD - Stomach adenocarcinoma(157;0.105)		GGATGAGCTGGACCCTGATGT	0.512																																																1	Substitution - Missense(1)	kidney(1)											138	112	121					9																	100286582		2203	4300	6503	SO:0001583	missense	7111				CCDS6726.1	9q22	2008-07-21		2003-03-21	ENSG00000136842	ENSG00000136842			11871	protein-coding gene	gene with protein product		190930		D9S57E, TMOD		1370827, 8661028	Standard	NM_003275		Approved	ETMOD	uc004axl.2	P28289	OTTHUMG00000020325	ENST00000259365.4:c.112G>A	chr9.hg19:g.100286582G>A	ENSP00000259365:p.Asp38Asn		B2RB77|Q5T7W3|Q9BUF1	Missense_Mutation	SNP	ENST00000259365.4	hg19	CCDS6726.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.821210	0.90873	.	.	ENSG00000136842	ENST00000395211;ENST00000259365	T;T	0.54279	0.58;0.58	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.76814	0.4040	M	0.87097	2.86	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.81468	-0.0919	10	0.87932	D	0	-31.3023	17.3565	0.87337	0.0:0.0:1.0:0.0	.	38	P28289	TMOD1_HUMAN	N	38	ENSP00000378637:D38N;ENSP00000259365:D38N	ENSP00000259365:D38N	D	+	1	0	TMOD1	99326403	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.283000	0.78640	2.534000	0.85438	0.585000	0.79938	GAC		0.512	TMOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053320.2	NM_003275		A	100286582	G	A	100286582	3	1	688	1	0	0	0	0	1	0	0	0	16238	1174	41	2	114	2	TMOD1	9	100286582	Missense_Mutation	SNP	G	TCGA-IZ-A6M9-01A-11D-A31X-10	65649019	100286582	40926849	27	38066											
PRDM12	59335	hgsc.bcm.edu	37	9	133556745	133556745	+	Missense_Mutation	SNP	C	C	T			TCGA-IZ-A6M9-01A-11D-A31X-10	TCGA-IZ-A6M9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0541b2e4-13f8-4845-a6ba-6dfde158bc09	558c1803-c4c2-42cb-82cb-f3e277bf9beb	g.chr9:133556745C>T	ENST00000253008.2	+	5	853	c.793C>T	c.(793-795)Cac>Tac	p.H265Y		NM_021619.2	NP_067632.2	Q9H4Q4	PRD12_HUMAN	PR domain containing 12	265					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)		CATGCGCATCCACACGCTGGA	0.711																																																0													11	13	12					9																	133556745		2188	4269	6457	SO:0001583	missense	59335			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.793C>T	chr9.hg19:g.133556745C>T	ENSP00000253008:p.His265Tyr		A3KFK9	Missense_Mutation	SNP	ENST00000253008.2	hg19	CCDS6934.1	.	.	.	.	.	.	.	.	.	.	C	35	5.424499	0.96111	.	.	ENSG00000130711	ENST00000253008	T	0.67523	-0.27	4.31	4.31	0.51392	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	0.84120	0.5402	M	0.89353	3.025	0.54753	D	0.999986	D	0.76494	0.999	D	0.87578	0.998	D	0.88039	0.2780	10	0.87932	D	0	-38.3997	15.763	0.78101	0.0:1.0:0.0:0.0	.	265	Q9H4Q4	PRD12_HUMAN	Y	265	ENSP00000253008:H265Y	ENSP00000253008:H265Y	H	+	1	0	PRDM12	132546566	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.432000	0.80349	1.954000	0.56735	0.561000	0.74099	CAC		0.711	PRDM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054664.1	NM_021619		T	133556745	C	T	133556745	3	4	688	1	0	0	0	0	1	0	0	0	12458	594	21	2	811	2	PRDM12	9	133556745	Missense_Mutation	SNP	C	TCGA-IZ-A6M9-01A-11D-A31X-10	33270163	133556745	7656686	28	38067											
GDI2	2665	hgsc.bcm.edu	37	10	5855180	5855180	+	Silent	SNP	C	C	A			TCGA-IZ-A6M9-01A-11D-A31X-10	TCGA-IZ-A6M9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0541b2e4-13f8-4845-a6ba-6dfde158bc09	558c1803-c4c2-42cb-82cb-f3e277bf9beb	g.chr10:5855180C>A	ENST00000380191.4	-	1	332	c.42G>T	c.(40-42)ctG>ctT	p.L14L	GDI2_ENST00000380181.3_Silent_p.L14L|GDI2_ENST00000380132.4_5'UTR|RP11-318E3.9_ENST00000608273.1_lincRNA	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2	14					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|Rab GDP-dissociation inhibitor activity (GO:0005093)|Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						CGCCCACCGTCAGGCCGGTGC	0.751																																																0													8	9	9					10																	5855180		2144	4238	6382	SO:0001819	synonymous_variant	2665			D13988	CCDS7071.1, CCDS44352.1	10p15	2010-03-16			ENSG00000057608	ENSG00000057608			4227	protein-coding gene	gene with protein product	"rab GDP-dissociation"	600767				9434952	Standard	NM_001494		Approved	RABGDIB	uc001iil.4	P50395	OTTHUMG00000017607	ENST00000380191.4:c.42G>T	chr10.hg19:g.5855180C>A			O43928|Q5SX88|Q9UQM6	Silent	SNP	ENST00000380191.4	hg19	CCDS7071.1																																																																																				0.751	GDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046580.1	NM_001494		A	5855180	C	A	5855180	2	1	688	1	0	0	0	0	0	0	0	1	6323	813	29	4		4	GDI2	10	5855180	Silent	SNP	C	TCGA-IZ-A6M9-01A-11D-A31X-10		5855180	129679567	29	38068											
COL17A1	1308	hgsc.bcm.edu	37	10	105795252	105795252	+	Missense_Mutation	SNP	T	T	G			TCGA-IZ-A6M9-01A-11D-A31X-10	TCGA-IZ-A6M9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0541b2e4-13f8-4845-a6ba-6dfde158bc09	558c1803-c4c2-42cb-82cb-f3e277bf9beb	g.chr10:105795252T>G	ENST00000353479.5	-	49	3778	c.3488A>C	c.(3487-3489)gAg>gCg	p.E1163A	COL17A1_ENST00000369733.3_Missense_Mutation_p.E1118A	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	1163	Triple-helical region.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GGAGAGGAGCTCCTCATAGGA	0.627																																																0													29	33	32					10																	105795252		2203	4300	6503	SO:0001583	missense	1308			M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"Collagens"	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.3488A>C	chr10.hg19:g.105795252T>G	ENSP00000340937:p.Glu1163Ala		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Missense_Mutation	SNP	ENST00000353479.5	hg19	CCDS7554.1	.	.	.	.	.	.	.	.	.	.	T	10.22	1.290516	0.23478	.	.	ENSG00000065618	ENST00000353479;ENST00000369733	D;D	0.91740	-2.9;-2.8	4.83	3.68	0.42216	.	0.150217	0.30329	N	0.009864	D	0.84633	0.5515	L	0.34521	1.04	0.80722	D	1	B	0.30406	0.278	B	0.30179	0.112	T	0.76542	-0.2921	10	0.10902	T	0.67	-20.9225	9.6783	0.40054	0.1549:0.0:0.0:0.8451	.	1163	Q9UMD9	COHA1_HUMAN	A	1163;1118	ENSP00000340937:E1163A;ENSP00000358748:E1118A	ENSP00000340937:E1163A	E	-	2	0	COL17A1	105785242	1.000000	0.71417	1.000000	0.80357	0.007000	0.05969	2.356000	0.44116	0.845000	0.35118	-0.695000	0.03696	GAG		0.627	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494		G	105795252	T	G	105795252	3	3	688	1	0	0	0	0	1	0	0	0	3676	1551	54	5	1037	5	COL17A1	10	105795252	Missense_Mutation	SNP	T	TCGA-IZ-A6M9-01A-11D-A31X-10	99940072	105795252	29739495	30	38069											
SMPD1	6609	hgsc.bcm.edu	37	11	6412728	6412728	+	Missense_Mutation	SNP	G	G	A			TCGA-IZ-A6M9-01A-11D-A31X-10	TCGA-IZ-A6M9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0541b2e4-13f8-4845-a6ba-6dfde158bc09	558c1803-c4c2-42cb-82cb-f3e277bf9beb	g.chr11:6412728G>A	ENST00000342245.4	+	2	601	c.433G>A	c.(433-435)Gtg>Atg	p.V145M	SMPD1_ENST00000527275.1_Missense_Mutation_p.V144M|SMPD1_ENST00000533196.1_Intron|SMPD1_ENST00000356761.2_Missense_Mutation_p.V145M|SMPD1_ENST00000299397.3_Missense_Mutation_p.V145M	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid lysosomal	143	Saposin B-type. {ECO:0000255|PROSITE- ProRule:PRU00415}.				cell death (GO:0008219)|ceramide biosynthetic process (GO:0046513)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of MAP kinase activity (GO:0043407)|nervous system development (GO:0007399)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein dephosphorylation (GO:0035307)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)|sphingomyelin metabolic process (GO:0006684)|termination of signal transduction (GO:0023021)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lamellar body (GO:0042599)|lysosomal lumen (GO:0043202)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Amlodipine(DB00381)|Chlorpromazine(DB00477)|Desipramine(DB01151)	GGATGACATGGTGGAGGTGTG	0.582																																																0													76	63	68					11																	6412728		2201	4296	6497	SO:0001583	missense	6609			AB209775	CCDS31409.1, CCDS44531.1, CCDS31409.2	11p15.4-p15.1	2010-04-28	2008-02-04		ENSG00000166311	ENSG00000166311	3.1.4.12		11120	protein-coding gene	gene with protein product	"acid sphingomyelinase"	607608				1711683	Standard	NM_000543		Approved	ASM	uc001mcw.3	P17405	OTTHUMG00000165453	ENST00000342245.4:c.433G>A	chr11.hg19:g.6412728G>A	ENSP00000340409:p.Val145Met		A8K8M3|E9PKS3|P17406|Q13811|Q16837|Q16841	Missense_Mutation	SNP	ENST00000342245.4	hg19	CCDS44531.1	.	.	.	.	.	.	.	.	.	.	G	18.12	3.553731	0.65425	.	.	ENSG00000166311	ENST00000299397;ENST00000356761;ENST00000342245;ENST00000527275	D;D;D;D	0.97731	-4.51;-4.51;-4.51;-4.51	5.11	5.11	0.69529	Saposin-like (2);Saposin B (2);	0.178891	0.37857	N	0.001919	D	0.96892	0.8985	L	0.54323	1.7	0.42449	D	0.99274	P;P;P	0.46706	0.818;0.883;0.579	B;P;P	0.51516	0.366;0.672;0.472	D	0.96137	0.9097	10	0.49607	T	0.09	-7.0221	9.6331	0.39791	0.0956:0.0:0.9044:0.0	.	144;145;143	E9PKS3;G3XAB5;P17405	.;.;ASM_HUMAN	M	145;145;145;144	ENSP00000299397:V145M;ENSP00000349203:V145M;ENSP00000340409:V145M;ENSP00000435350:V144M	ENSP00000299397:V145M	V	+	1	0	SMPD1	6369304	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.869000	0.48444	2.382000	0.81193	0.650000	0.86243	GTG		0.582	SMPD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384205.1	NM_000543		A	6412728	G	A	6412728	3	1	688	1	0	0	0	0	1	0	0	0	14810	1261	44	2	439	2	SMPD1	11	6412728	Missense_Mutation	SNP	G	TCGA-IZ-A6M9-01A-11D-A31X-10		6412728	128593788	31	38070											
PEX16	9409	hgsc.bcm.edu	37	11	45936221	45936221	+	Missense_Mutation	SNP	G	G	A			TCGA-IZ-A6M9-01A-11D-A31X-10	TCGA-IZ-A6M9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0541b2e4-13f8-4845-a6ba-6dfde158bc09	558c1803-c4c2-42cb-82cb-f3e277bf9beb	g.chr11:45936221G>A	ENST00000378750.5	-	6	718	c.475C>T	c.(475-477)Cct>Tct	p.P159S	PEX16_ENST00000532554.1_5'UTR|PEX16_ENST00000532681.1_Missense_Mutation_p.P64S|PEX16_ENST00000241041.3_Missense_Mutation_p.P159S			Q9Y5Y5	PEX16_HUMAN	peroxisomal biogenesis factor 16	159					ER-dependent peroxisome organization (GO:0032581)|peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome membrane (GO:0045046)|protein localization to endoplasmic reticulum (GO:0070972)|protein targeting to peroxisome (GO:0006625)|protein to membrane docking (GO:0022615)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	protein C-terminus binding (GO:0008022)	p.P159T(1)		large_intestine(2)|lung(2)|ovary(2)|skin(1)	7				GBM - Glioblastoma multiforme(35;0.223)		TGGTTGCCAGGGCTGTGGTCA	0.582																																																1	Substitution - Missense(1)	large_intestine(1)											154	129	137					11																	45936221		2203	4299	6502	SO:0001583	missense	9409			AF118240	CCDS7917.1, CCDS31472.1	11p	2007-12-14			ENSG00000121680	ENSG00000121680			8857	protein-coding gene	gene with protein product		603360				9922452	Standard	NM_057174		Approved		uc001nbt.3	Q9Y5Y5	OTTHUMG00000167005	ENST00000378750.5:c.475C>T	chr11.hg19:g.45936221G>A	ENSP00000368024:p.Pro159Ser		Q9BWB9	Missense_Mutation	SNP	ENST00000378750.5	hg19	CCDS31472.1	.	.	.	.	.	.	.	.	.	.	G	0.052	-1.248308	0.01469	.	.	ENSG00000121680	ENST00000241041;ENST00000378750;ENST00000532681;ENST00000533151;ENST00000525192	T;T;T;T;T	0.19250	2.16;2.16;2.16;2.16;2.16	6.04	-5.2	0.02823	.	1.274680	0.04746	N	0.423709	T	0.05868	0.0153	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.28744	-1.0034	10	0.06236	T	0.91	2.692	1.5964	0.02665	0.2746:0.3442:0.2067:0.1744	.	159;159	Q9Y5Y5;Q9Y5Y5-2	PEX16_HUMAN;.	S	159;159;64;55;64	ENSP00000241041:P159S;ENSP00000368024:P159S;ENSP00000434654:P64S;ENSP00000433045:P55S;ENSP00000431309:P64S	ENSP00000241041:P159S	P	-	1	0	PEX16	45892797	0.000000	0.05858	0.001000	0.08648	0.474000	0.32979	-1.251000	0.02882	-0.602000	0.05775	0.561000	0.74099	CCT		0.582	PEX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392398.1	NM_057174		A	45936221	G	A	45936221	3	1	688	1	0	0	0	0	1	0	0	0	11745	1232	43	2	652	2	PEX16	11	45936221	Missense_Mutation	SNP	G	TCGA-IZ-A6M9-01A-11D-A31X-10	39523493	45936221	89070295	32	38071											
C11orf57	55216	hgsc.bcm.edu	37	11	111953315	111953315	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IZ-A6M9-01A-11D-A31X-10	TCGA-IZ-A6M9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0541b2e4-13f8-4845-a6ba-6dfde158bc09	558c1803-c4c2-42cb-82cb-f3e277bf9beb	g.chr11:111953315delC	ENST00000280352.9	+	6	1134	c.498delC	c.(496-498)cacfs	p.H166fs	C11orf57_ENST00000393047.3_Frame_Shift_Del_p.H167fs|TIMM8B_ENST00000507614.1_5'Flank|C11orf57_ENST00000420986.2_Frame_Shift_Del_p.H166fs|C11orf57_ENST00000532163.1_Frame_Shift_Del_p.H138fs	NM_001082970.1|NM_018195.3	NP_001076439.1|NP_060665.3	Q6ZUT1	CK057_HUMAN	chromosome 11 open reading frame 57	166	Lys-rich.									autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12		all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521)		AAAGGTCACACAAAAAACAGA	0.413																																																0													99	105	103					11																	111953315		2201	4297	6498	SO:0001589	frameshift_variant	55216			BX538107	CCDS8356.2, CCDS41715.1, CCDS73383.1	11q23.1	2006-03-09			ENSG00000150776	ENSG00000150776			25569	protein-coding gene	gene with protein product						12477932	Standard	NM_001082970		Approved	FLJ10726	uc001pmw.4	Q6ZUT1	OTTHUMG00000150213	ENST00000280352.9:c.498delC	chr11.hg19:g.111953315delC	ENSP00000339076:p.His166fs		Q5RL41|Q6IN53|Q7Z357|Q8N2T3	Frame_Shift_Del	DEL	ENST00000280352.9	hg19	CCDS41715.1																																																																																				0.413	C11orf57-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316852.1	NM_018195		-	111953315	C	-	111953315	7	5	688	1	0	1	0	1	0	0	0	0	1652	477	17	0	519	0	C11orf57	11	111953315	Frame_Shift_Del	DEL	C	TCGA-IZ-A6M9-01A-11D-A31X-10	66017094	111953315	23053201	33	38072											
DNAJC22	79962	hgsc.bcm.edu	37	12	49745201	49745201	+	Missense_Mutation	SNP	G	G	T			TCGA-IZ-A6M9-01A-11D-A31X-10	TCGA-IZ-A6M9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0541b2e4-13f8-4845-a6ba-6dfde158bc09	558c1803-c4c2-42cb-82cb-f3e277bf9beb	g.chr12:49745201G>T	ENST00000549441.2	+	4	2146	c.942G>T	c.(940-942)gaG>gaT	p.E314D	DNAJC22_ENST00000395069.3_Missense_Mutation_p.E314D			Q8N4W6	DJC22_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 22	314	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.					integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1)	10						ACCAGACAGAGGAGGCACAGA	0.547																																																0													59	59	59					12																	49745201		2203	4300	6503	SO:0001583	missense	79962			AK055747	CCDS8785.1	12q13.12	2011-09-02		2008-07-08	ENSG00000178401	ENSG00000178401		"Heat shock proteins / DNAJ (HSP40)"	25802	protein-coding gene	gene with protein product	"wurst homolog (Drosophila)"					17558392	Standard	NM_024902		Approved	wus, FLJ13236	uc001rua.3	Q8N4W6		ENST00000549441.2:c.942G>T	chr12.hg19:g.49745201G>T	ENSP00000446830:p.Glu314Asp		B3KP54	Missense_Mutation	SNP	ENST00000549441.2	hg19	CCDS8785.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.564963	0.65651	.	.	ENSG00000178401	ENST00000549441;ENST00000395069	T;T	0.33438	1.41;1.41	5.5	3.53	0.40419	Heat shock protein DnaJ, N-terminal (5);	0.154813	0.56097	D	0.000021	T	0.18882	0.0453	N	0.20357	0.565	0.47511	D	0.999446	P	0.36354	0.549	B	0.40038	0.317	T	0.05517	-1.0880	10	0.37606	T	0.19	-7.4243	4.2702	0.10783	0.1957:0.0:0.6268:0.1776	.	314	Q8N4W6	DJC22_HUMAN	D	314	ENSP00000446830:E314D;ENSP00000378508:E314D	ENSP00000378508:E314D	E	+	3	2	DNAJC22	48031468	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	0.731000	0.26058	0.748000	0.32831	0.555000	0.69702	GAG		0.547	DNAJC22-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404302.2	NM_024902		T	49745201	G	T	49745201	3	4	688	1	0	0	0	0	1	0	0	0	4643	991	35	4	948	4	DNAJC22	12	49745201	Missense_Mutation	SNP	G	TCGA-IZ-A6M9-01A-11D-A31X-10		49745201	84106694	34	38073											
ARL6IP4	23457	hgsc.bcm.edu	37	12	123465766	123465770	+	5'UTR	DEL	AGAGC	AGAGC	-			TCGA-IZ-A6M9-01A-11D-A31X-10	TCGA-IZ-A6M9-10A-01D-A31X-10	AGAGC	AGAGC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0541b2e4-13f8-4845-a6ba-6dfde158bc09	558c1803-c4c2-42cb-82cb-f3e277bf9beb	g.chr12:123465766_123465770delAGAGC	ENST00000542678.1	-	0	426_430				ARL6IP4_ENST00000454885.2_Frame_Shift_Del_p.KS27fs|ARL6IP4_ENST00000412505.2_Frame_Shift_Del_p.KS27fs|ARL6IP4_ENST00000439686.2_Frame_Shift_Del_p.KS27fs|ARL6IP4_ENST00000543566.1_Frame_Shift_Del_p.KS150fs|ARL6IP4_ENST00000426960.2_Frame_Shift_Del_p.KS27fs|RP11-197N18.2_ENST00000540866.2_RNA|ARL6IP4_ENST00000315580.5_Frame_Shift_Del_p.KS150fs|ARL6IP4_ENST00000453766.2_Frame_Shift_Del_p.KS150fs|ARL6IP4_ENST00000392435.2_Frame_Shift_Del_p.KS150fs|ARL6IP4_ENST00000357866.4_Frame_Shift_Del_p.KS27fs			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)		AGAAAGAAGAAGAGCAGGAAAGACA	0.683																																					Ovarian(49;786 1333 9175 38236)											0																																										SO:0001623	5_prime_UTR_variant	51329			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.-2413GCTCT>-	chr12.hg19:g.123465766_123465770delAGAGC			B4E2J0|Q5W9G7|Q769F3|Q769F4|Q96AB1|Q9P208	Frame_Shift_Del	DEL	ENST00000542678.1	hg19	CCDS9241.1																																																																																				0.683	ABCB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400956.1	NM_019624		-	123465770	AGAGC	-	123465766	6	5	688	0	1	1	0	1	0	0	0	0	943	72	3	0		0	ARL6IP4	12	123465766	5'UTR	DEL	AGAGC	TCGA-IZ-A6M9-01A-11D-A31X-10	73720565	123465766	10386129	35	38074											
NUFIP1	26747	hgsc.bcm.edu	37	13	45563329	45563329	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IZ-A6M9-01A-11D-A31X-10	TCGA-IZ-A6M9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0541b2e4-13f8-4845-a6ba-6dfde158bc09	558c1803-c4c2-42cb-82cb-f3e277bf9beb	g.chr13:45563329delG	ENST00000379161.4	-	1	289	c.243delC	c.(241-243)ttcfs	p.F81fs	GPALPP1_ENST00000379151.4_5'Flank|RP11-321C24.1_ENST00000437748.2_lincRNA|GPALPP1_ENST00000361121.2_5'Flank	NM_012345.2	NP_036477.2	Q9UHK0	NUFP1_HUMAN	nuclear fragile X mental retardation protein interacting protein 1	81	Pro-rich.				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)		TCTGGGCGTCGAAGGGGGGCG	0.657																																																0													14	17	16					13																	45563329		2189	4285	6474	SO:0001589	frameshift_variant	26747			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.243delC	chr13.hg19:g.45563329delG	ENSP00000368459:p.Phe81fs		Q8WVM5|Q96SG1	Frame_Shift_Del	DEL	ENST00000379161.4	hg19	CCDS9393.1																																																																																				0.657	NUFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044755.2	NM_012345		-	45563329	G	-	45563329	7	5	688	1	0	1	0	1	0	0	0	0	10750	1049	37	0	1284	0	NUFIP1	13	45563329	Frame_Shift_Del	DEL	G	TCGA-IZ-A6M9-01A-11D-A31X-10		45563329	69606549	36	38075											
LMO7	4008	hgsc.bcm.edu	37	13	76395479	76395497	+	Frame_Shift_Del	DEL	AAAGAAGATTCTACCACTT	AAAGAAGATTCTACCACTT	-	rs200351536|rs532984694|rs149099643	byFrequency	TCGA-IZ-A6M9-01A-11D-A31X-10	TCGA-IZ-A6M9-10A-01D-A31X-10	AAAGAAGATTCTACCACTT	AAAGAAGATTCTACCACTT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0541b2e4-13f8-4845-a6ba-6dfde158bc09	558c1803-c4c2-42cb-82cb-f3e277bf9beb	g.chr13:76395479_76395497delAAAGAAGATTCTACCACTT	ENST00000321797.8	+	12	2396_2414	c.1675_1693delAAAGAAGATTCTACCACTT	c.(1675-1695)aaagaagattctaccacttttfs	p.KEDSTTF559fs	LMO7_ENST00000465261.2_Frame_Shift_Del_p.KEDSTTF559fs|LMO7_ENST00000357063.3_Frame_Shift_Del_p.KEDSTTF844fs|LMO7_ENST00000377534.3_Frame_Shift_Del_p.KEDSTTF844fs|LMO7_ENST00000341547.4_Frame_Shift_Del_p.KEDSTTF510fs|LMO7_ENST00000526202.1_Frame_Shift_Del_p.KEDSTTF409fs			Q8WWI1	LMO7_HUMAN	LIM domain 7	844					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)		AGAAATTCCCAAAGAAGATTCTACCACTTTTGCAAAAAG	0.457																																																0																																										SO:0001589	frameshift_variant	4008			AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"F-box only protein 20"	604362	"LIM domain only 7"	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.1675_1693delAAAGAAGATTCTACCACTT	chr13.hg19:g.76395479_76395497delAAAGAAGATTCTACCACTT	ENSP00000317802:p.Lys559fs		E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Frame_Shift_Del	DEL	ENST00000321797.8	hg19																																																																																					0.457	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000045301.3	NM_005358		-	76395497	AAAGAAGATTCTACCACTT	-	76395479	7	5	688	1	0	1	0	1	0	0	0	0	8857	131	5	0	2588	0	LMO7	13	76395479	Frame_Shift_Del	DEL	AAAGAAGATTCTACCACTT	TCGA-IZ-A6M9-01A-11D-A31X-10	30832150	76395479	38774399	37	38076											
TMTC4	84899	hgsc.bcm.edu	37	13	101287091	101287091	+	Missense_Mutation	SNP	T	T	G			TCGA-IZ-A6M9-01A-11D-A31X-10	TCGA-IZ-A6M9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0541b2e4-13f8-4845-a6ba-6dfde158bc09	558c1803-c4c2-42cb-82cb-f3e277bf9beb	g.chr13:101287091T>G	ENST00000376234.3	-	11	1606	c.1417A>C	c.(1417-1419)Agt>Cgt	p.S473R	TMTC4_ENST00000328767.5_Missense_Mutation_p.S362R|TMTC4_ENST00000462211.1_5'UTR|TMTC4_ENST00000342624.5_Missense_Mutation_p.S492R	NM_001079669.1	NP_001073137.1	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	473						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)					GACAGAGCACTTCTGAAAAGC	0.493																																																0													135	140	139					13																	101287091		2203	4300	6503	SO:0001583	missense	84899				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.1417A>C	chr13.hg19:g.101287091T>G	ENSP00000365408:p.Ser473Arg		A6NLI7|B7Z666|Q5T4D4|Q5T4D5|Q5T4D6|Q8WV63|Q96SU8	Missense_Mutation	SNP	ENST00000376234.3	hg19	CCDS41904.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.428259	0.83667	.	.	ENSG00000125247	ENST00000376234;ENST00000342624;ENST00000328767	T;T;T	0.52526	0.66;0.66;0.66	5.55	5.55	0.83447	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.75406	0.3845	M	0.91663	3.23	0.80722	D	1	D;D;D;P	0.89917	1.0;0.999;1.0;0.737	D;D;D;P	0.97110	0.997;0.994;1.0;0.565	T	0.81901	-0.0720	10	0.87932	D	0	.	15.7439	0.77922	0.0:0.0:0.0:1.0	.	362;473;473;492	B7Z666;Q5T4D3-2;Q5T4D3;Q5T4D3-3	.;.;TMTC4_HUMAN;.	R	473;492;362	ENSP00000365408:S473R;ENSP00000343871:S492R;ENSP00000365409:S362R	ENSP00000365409:S362R	S	-	1	0	TMTC4	100085092	1.000000	0.71417	0.954000	0.39281	0.652000	0.38707	7.590000	0.82653	2.134000	0.65973	0.456000	0.33151	AGT		0.493	TMTC4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045649.2	NM_032813		G	101287091	T	G	101287091	3	3	688	1	0	0	0	0	1	0	0	0	16268	1609	56	5	840	5	TMTC4	13	101287091	Missense_Mutation	SNP	T	TCGA-IZ-A6M9-01A-11D-A31X-10	24891612	101287091	13882787	38	38077											
MTA1	9112	hgsc.bcm.edu	37	14	105927271	105927271	+	Missense_Mutation	SNP	C	C	T			TCGA-IZ-A6M9-01A-11D-A31X-10	TCGA-IZ-A6M9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0541b2e4-13f8-4845-a6ba-6dfde158bc09	558c1803-c4c2-42cb-82cb-f3e277bf9beb	g.chr14:105927271C>T	ENST00000331320.7	+	10	1137	c.923C>T	c.(922-924)aCg>aTg	p.T308M	MTA1_ENST00000435036.2_5'Flank|MTA1_ENST00000405646.1_Missense_Mutation_p.T291M|MTA1_ENST00000406191.1_Missense_Mutation_p.T308M	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	308	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				circadian regulation of gene expression (GO:0032922)|double-strand break repair (GO:0006302)|entrainment of circadian clock by photoperiod (GO:0043153)|locomotor rhythm (GO:0045475)|positive regulation of protein autoubiquitination (GO:1902499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression, epigenetic (GO:0040029)|regulation of inflammatory response (GO:0050727)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|secretory granule organization (GO:0033363)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|microtubule (GO:0005874)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		AAGGATTTCACGGACATTCAG	0.597																																																0													109	108	109					14																	105927271		2203	4300	6503	SO:0001583	missense	9112			U35113	CCDS32169.1, CCDS55954.1	14q32.33	2013-01-25			ENSG00000182979	ENSG00000182979		"GATA zinc finger domain containing"	7410	protein-coding gene	gene with protein product		603526				8083195, 7607577	Standard	NM_004689		Approved		uc001yqx.3	Q13330	OTTHUMG00000150362	ENST00000331320.7:c.923C>T	chr14.hg19:g.105927271C>T	ENSP00000333633:p.Thr308Met		A5PLK4|Q86SW2|Q8NFI8|Q96GI8	Missense_Mutation	SNP	ENST00000331320.7	hg19	CCDS32169.1	.	.	.	.	.	.	.	.	.	.	C	19.61	3.860017	0.71834	.	.	ENSG00000182979	ENST00000414153;ENST00000331320;ENST00000406191;ENST00000405646;ENST00000498644;ENST00000434050	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	4.38	3.47	0.39725	SANT domain, DNA binding (1);Homeodomain-like (1);SANT, eukarya (1);	0.053947	0.85682	D	0.000000	T	0.41096	0.1144	N	0.08118	0	0.80722	D	1	D;D	0.89917	1.0;0.977	D;P	0.67382	0.951;0.571	T	0.47774	-0.9091	10	0.66056	D	0.02	-8.7686	12.2148	0.54400	0.172:0.828:0.0:0.0	.	100;308	Q59FW1;Q13330	.;MTA1_HUMAN	M	217;308;308;291;222;100	ENSP00000333633:T308M;ENSP00000385702:T308M;ENSP00000384180:T291M;ENSP00000394106:T100M	ENSP00000333633:T308M	T	+	2	0	MTA1	104998316	0.994000	0.37717	0.923000	0.36655	0.976000	0.68499	3.151000	0.50670	0.814000	0.34374	0.655000	0.94253	ACG		0.597	MTA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317849.15			T	105927271	C	T	105927271	3	4	688	1	0	0	0	0	1	0	0	0	9910	536	19	1	961	1	MTA1	14	105927271	Missense_Mutation	SNP	C	TCGA-IZ-A6M9-01A-11D-A31X-10		105927271	1422269	39	38078											
CNOT1	23019	hgsc.bcm.edu	37	16	58592566	58592570	+	Frame_Shift_Del	DEL	CAAGA	CAAGA	-			TCGA-IZ-A6M9-01A-11D-A31X-10	TCGA-IZ-A6M9-10A-01D-A31X-10	CAAGA	CAAGA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0541b2e4-13f8-4845-a6ba-6dfde158bc09	558c1803-c4c2-42cb-82cb-f3e277bf9beb	g.chr16:58592566_58592570delCAAGA	ENST00000317147.5	-	18	2471_2475	c.2139_2143delTCTTG	c.(2137-2145)cctcttgctfs	p.LA714fs	CNOT1_ENST00000569240.1_Frame_Shift_Del_p.LA714fs|CNOT1_ENST00000441024.2_Frame_Shift_Del_p.LA714fs|CNOT1_ENST00000569732.1_5'Flank|SNORA50_ENST00000384225.2_RNA	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	714					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)		GTCATTCCAGCAAGAGGGTCAATCT	0.4																																																0																																										SO:0001589	frameshift_variant	23019			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.2139_2143delTCTTG	chr16.hg19:g.58592566_58592570delCAAGA	ENSP00000320949:p.Leu714fs		Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Frame_Shift_Del	DEL	ENST00000317147.5	hg19	CCDS10799.1																																																																																				0.4	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		-	58592570	CAAGA	-	58592566	7	5	688	1	0	1	0	1	0	0	0	0	3619	710	25	0	5337	0	CNOT1	16	58592566	Frame_Shift_Del	DEL	CAAGA	TCGA-IZ-A6M9-01A-11D-A31X-10		58592566	31762187	40	38079											
PDPR	55066	hgsc.bcm.edu	37	16	70163023	70163023	+	Missense_Mutation	SNP	A	A	T			TCGA-IZ-A6M9-01A-11D-A31X-10	TCGA-IZ-A6M9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0541b2e4-13f8-4845-a6ba-6dfde158bc09	558c1803-c4c2-42cb-82cb-f3e277bf9beb	g.chr16:70163023A>T	ENST00000288050.4	+	6	1562	c.605A>T	c.(604-606)aAt>aTt	p.N202I	PDPR_ENST00000398122.3_Missense_Mutation_p.N102I|PDPR_ENST00000568530.1_Missense_Mutation_p.N202I	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	202					cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		GCCTCCCAAAATGGTGAGCAG	0.512																																																0													111	104	106					16																	70163023		1953	4159	6112	SO:0001583	missense	55066				CCDS45520.1	16q22.1	2010-08-24			ENSG00000090857	ENSG00000090857			30264	protein-coding gene	gene with protein product						9395502	Standard	NM_017990		Approved	PDP3	uc002eyf.1	Q8NCN5		ENST00000288050.4:c.605A>T	chr16.hg19:g.70163023A>T	ENSP00000288050:p.Asn202Ile		A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Missense_Mutation	SNP	ENST00000288050.4	hg19	CCDS45520.1	.	.	.	.	.	.	.	.	.	.	A	13.30	2.196035	0.38806	.	.	ENSG00000090857	ENST00000288050;ENST00000398122	D;D	0.82167	-1.58;-1.58	4.5	3.4	0.38934	FAD dependent oxidoreductase (1);	0.236187	0.40385	N	0.001112	T	0.77765	0.4179	L	0.55213	1.73	0.80722	D	1	B	0.23806	0.091	B	0.28784	0.094	T	0.69224	-0.5201	10	0.31617	T	0.26	.	9.0915	0.36614	0.9111:0.0:0.0889:0.0	.	202	Q8NCN5	PDPR_HUMAN	I	202;102	ENSP00000288050:N202I;ENSP00000381190:N102I	ENSP00000288050:N202I	N	+	2	0	PDPR	68720524	1.000000	0.71417	0.967000	0.41034	0.965000	0.64279	5.368000	0.66133	0.581000	0.29539	0.455000	0.32223	AAT		0.512	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434502.1	NM_017990		T	70163023	A	T	70163023	3	4	688	1	0	0	0	0	1	0	0	0	11691	101	4	5	619	5	PDPR	16	70163023	Missense_Mutation	SNP	A	TCGA-IZ-A6M9-01A-11D-A31X-10	11570457	70163023	20191730	41	38080											
KARS	3735	hgsc.bcm.edu	37	16	75678300	75678300	+	Intron	SNP	A	A	T			TCGA-IZ-A6M9-01A-11D-A31X-10	TCGA-IZ-A6M9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0541b2e4-13f8-4845-a6ba-6dfde158bc09	558c1803-c4c2-42cb-82cb-f3e277bf9beb	g.chr16:75678300A>T	ENST00000302445.3	-	2	102				KARS_ENST00000319410.5_Silent_p.L9L|KARS_ENST00000568378.1_Silent_p.L9L	NM_005548.2	NP_005539.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase						cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|lysyl-tRNA aminoacylation (GO:0006430)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)|viral process (GO:0016032)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|microtubule cytoskeleton (GO:0015630)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid binding (GO:0016597)|ATP binding (GO:0005524)|lysine-tRNA ligase activity (GO:0004824)|metal ion binding (GO:0046872)|tRNA binding (GO:0000049)			kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	ACCCCCTAACAAGCCTTACAG	0.552																																																0													50	47	48					16																	75678300		1568	3582	5150	SO:0001627	intron_variant	3735			AF285758	CCDS10923.1, CCDS45532.1	16q23.1	2014-09-17			ENSG00000065427	ENSG00000065427	6.1.1.6	"Aminoacyl tRNA synthetases / Class II"	6215	protein-coding gene	gene with protein product	"lysine tRNA ligase"	601421	"deafness, autosomal recessive 89"	DFNB89		8812440, 9278442, 23768514	Standard	NM_005548		Approved	KARS2, KARS1	uc002fer.3	Q15046	OTTHUMG00000137609	ENST00000302445.3:c.63-2679T>A	chr16.hg19:g.75678300A>T			A8MSK1|D3DUK4|O14946|Q96J25|Q9HB23	Silent	SNP	ENST00000302445.3	hg19	CCDS10923.1																																																																																				0.552	KARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269023.1	NM_005548		T	75678300	A	T	75678300	1	4	688	0	1	0	0	0	0	0	0	0	7982	117	5	5		5	KARS	16	75678300	Intron	SNP	A	TCGA-IZ-A6M9-01A-11D-A31X-10	5515277	75678300	14676453	42	38081											
MYH4	4622	hgsc.bcm.edu	37	17	10358389	10358389	+	Missense_Mutation	SNP	G	G	T			TCGA-IZ-A6M9-01A-11D-A31X-10	TCGA-IZ-A6M9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0541b2e4-13f8-4845-a6ba-6dfde158bc09	558c1803-c4c2-42cb-82cb-f3e277bf9beb	g.chr17:10358389G>T	ENST00000255381.2	-	21	2414	c.2304C>A	c.(2302-2304)ttC>ttA	p.F768L	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	768	Actin-binding. {ECO:0000250}.|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						CAGCTTTGAAGAAAACCTTAT	0.403																																																0													169	108	129					17																	10358389		2203	4300	6503	SO:0001583	missense	4622				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.2304C>A	chr17.hg19:g.10358389G>T	ENSP00000255381:p.Phe768Leu			Missense_Mutation	SNP	ENST00000255381.2	hg19	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.962237	0.74016	.	.	ENSG00000141048	ENST00000255381	D	0.94280	-3.39	5.04	5.04	0.67666	Myosin head, motor domain (2);	0.000000	0.39475	U	0.001344	D	0.97340	0.9130	H	0.96691	3.865	0.58432	D	0.999998	P	0.40794	0.729	P	0.51229	0.663	D	0.98383	1.0559	10	0.62326	D	0.03	.	18.7298	0.91731	0.0:0.0:1.0:0.0	.	768	Q9Y623	MYH4_HUMAN	L	768	ENSP00000255381:F768L	ENSP00000255381:F768L	F	-	3	2	MYH4	10299114	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	3.989000	0.56958	2.497000	0.84241	0.313000	0.20887	TTC		0.403	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		T	10358389	G	T	10358389	3	4	688	1	0	0	0	0	1	0	0	0	10039	933	33	4	3595	4	MYH4	17	10358389	Missense_Mutation	SNP	G	TCGA-IZ-A6M9-01A-11D-A31X-10		10358389	70836821	43	38082											
C17orf48	56985	hgsc.bcm.edu	37	17	10608594	10608594	+	Missense_Mutation	SNP	T	T	G			TCGA-IZ-A6M9-01A-11D-A31X-10	TCGA-IZ-A6M9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0541b2e4-13f8-4845-a6ba-6dfde158bc09	558c1803-c4c2-42cb-82cb-f3e277bf9beb	g.chr17:10608594T>G	ENST00000379774.4	+	2	442	c.351T>G	c.(349-351)agT>agG	p.S117R	ADPRM_ENST00000609540.1_Missense_Mutation_p.S117R	NM_020233.4	NP_064618.3	Q3LIE5	ADPRM_HUMAN	ADP-ribose/CDP-alcohol diphosphatase, manganese-dependent	117							ADP-ribose diphosphatase activity (GO:0047631)|CDP-glycerol diphosphatase activity (GO:0047734)|metal ion binding (GO:0046872)										ATAACTTCAGTAGAGAGTATT	0.358																																																0													83	78	80					17																	10608594		2203	4300	6503	SO:0001583	missense	56985			BC070155	CCDS11159.2	17p13.1	2012-07-20	2012-07-20	2012-07-20	ENSG00000170222	ENSG00000170222	3.6.1.13, 3.6.1.16, 3.6.1.53		30925	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 48"	C17orf48		18352857	Standard	XM_005256738		Approved	MDS006	uc002gmt.3	Q3LIE5	OTTHUMG00000130366	ENST00000379774.4:c.351T>G	chr17.hg19:g.10608594T>G	ENSP00000369099:p.Ser117Arg		A8K9B4|D3DTS4|Q9BVD4|Q9NRU8	Missense_Mutation	SNP	ENST00000379774.4	hg19	CCDS11159.2	.	.	.	.	.	.	.	.	.	.	T	13.35	2.211314	0.39102	.	.	ENSG00000170222	ENST00000379774	D	0.84800	-1.9	5.64	-3.05	0.05396	Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	T	0.80919	0.4716	M	0.65498	2.005	0.80722	D	1	B	0.22080	0.064	B	0.27380	0.079	T	0.67264	-0.5714	10	0.21014	T	0.42	-25.0558	14.2725	0.66159	0.0:0.7691:0.1179:0.113	.	117	Q3LIE5	ADPRM_HUMAN	R	117	ENSP00000369099:S117R	ENSP00000369099:S117R	S	+	3	2	C17orf48	10549319	0.999000	0.42202	0.983000	0.44433	0.902000	0.53008	0.629000	0.24538	-0.424000	0.07382	-0.299000	0.09455	AGT		0.358	ADPRM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252732.2	NM_020233		G	10608594	T	G	10608594	3	3	688	1	0	0	0	0	1	0	0	0	1861	1635	57	5	353	5	C17orf48	17	10608594	Missense_Mutation	SNP	T	TCGA-IZ-A6M9-01A-11D-A31X-10	250205	10608594	70586616	44	38083											
SUPT6H	6830	hgsc.bcm.edu	37	17	27014486	27014486	+	Silent	SNP	G	G	T			TCGA-IZ-A6M9-01A-11D-A31X-10	TCGA-IZ-A6M9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0541b2e4-13f8-4845-a6ba-6dfde158bc09	558c1803-c4c2-42cb-82cb-f3e277bf9beb	g.chr17:27014486G>T	ENST00000314616.6	+	23	3286	c.3003G>T	c.(3001-3003)ctG>ctT	p.L1001L	SUPT6H_ENST00000347486.4_Silent_p.L1001L	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1001	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)					CCCACCTCCTGAAGGTAGGAT	0.458																																																0													46	41	43					17																	27014486		2203	4300	6503	SO:0001819	synonymous_variant	6830			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.3003G>T	chr17.hg19:g.27014486G>T			A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Silent	SNP	ENST00000314616.6	hg19	CCDS32596.1																																																																																				0.458	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		T	27014486	G	T	27014486	2	4	688	1	0	0	0	0	0	0	0	1	15405	1277	45	4		4	SUPT6H	17	27014486	Silent	SNP	G	TCGA-IZ-A6M9-01A-11D-A31X-10	16405892	27014486	54180724	45	38084											
CACNB1	782	hgsc.bcm.edu	37	17	37341119	37341119	+	Splice_Site	SNP	T	T	A			TCGA-IZ-A6M9-01A-11D-A31X-10	TCGA-IZ-A6M9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0541b2e4-13f8-4845-a6ba-6dfde158bc09	558c1803-c4c2-42cb-82cb-f3e277bf9beb	g.chr17:37341119T>A	ENST00000394303.3	-	8	856		c.e8-2		CACNB1_ENST00000344140.5_Splice_Site|CACNB1_ENST00000582877.1_5'Flank|CACNB1_ENST00000394310.3_Splice_Site	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit						axon guidance (GO:0007411)|protein targeting to membrane (GO:0006612)|transport (GO:0006810)	sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Dronedarone(DB04855)|Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	ATGCTCTGTCTGGGGGGGGAA	0.627																																					Esophageal Squamous(5;100 366 38393 41452 45827)											0													33	30	31					17																	37341119		2203	4300	6503	SO:0001630	splice_region_variant	782				CCDS11334.1, CCDS42311.1, CCDS45665.1	17q21-q22	2013-03-20			ENSG00000067191	ENSG00000067191		"Calcium channel subunits"	1401	protein-coding gene	gene with protein product		114207		CACNLB1		8381767, 8395940	Standard	NM_000723		Approved		uc002hrm.2	Q02641	OTTHUMG00000133217	ENST00000394303.3:c.649-2A>T	chr17.hg19:g.37341119T>A			A8K114|O15331|Q02639|Q02640|Q8N3X9|Q9C085|Q9UD79	Splice_Site	SNP	ENST00000394303.3	hg19	CCDS42311.1	.	.	.	.	.	.	.	.	.	.	T	18.41	3.618558	0.66787	.	.	ENSG00000067191	ENST00000539338;ENST00000394303;ENST00000344140;ENST00000394310;ENST00000536613	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1992	0.65690	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CACNB1	34594645	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	7.867000	0.87062	1.992000	0.58205	0.454000	0.30748	.		0.627	CACNB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256945.3		Intron	A	37341119	T	A	37341119	5	1	688	1	0	0	0	0	0	0	1	0	2554	1594	55	5	1282	5	CACNB1	17	37341119	Splice_Site	SNP	T	TCGA-IZ-A6M9-01A-11D-A31X-10	10326633	37341119	43854091	46	38085											
ERBB2	2064	hgsc.bcm.edu	37	17	37883597	37883597	+	Missense_Mutation	SNP	C	C	T			TCGA-IZ-A6M9-01A-11D-A31X-10	TCGA-IZ-A6M9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0541b2e4-13f8-4845-a6ba-6dfde158bc09	558c1803-c4c2-42cb-82cb-f3e277bf9beb	g.chr17:37883597C>T	ENST00000269571.5	+	26	3368	c.3209C>T	c.(3208-3210)gCc>gTc	p.A1070V	MIEN1_ENST00000474210.1_5'Flank|MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000541774.1_Missense_Mutation_p.A1055V|ERBB2_ENST00000584450.1_Intron|ERBB2_ENST00000445658.2_Missense_Mutation_p.A794V|ERBB2_ENST00000540147.1_Missense_Mutation_p.A1040V|ERBB2_ENST00000406381.2_Missense_Mutation_p.A1040V|ERBB2_ENST00000584601.1_Missense_Mutation_p.A1040V			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	1070					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)	GAAGAGGAGGCCCCCAGGTCT	0.617		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)																													Dom	yes		17	17q21.1	2064	"v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"		E	0													35	39	38					17																	37883597		2203	4300	6503	SO:0001583	missense	2064			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"CD molecules"	3430	protein-coding gene	gene with protein product	"neuro/glioblastoma derived oncogene homolog"	164870	"v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.3209C>T	chr17.hg19:g.37883597C>T	ENSP00000269571:p.Ala1070Val		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	hg19	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.978099	0.34942	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	T;T;T;T;T	0.75704	-0.95;-0.95;-0.93;-0.96;-0.95	5.41	5.41	0.78517	.	.	.	.	.	T	0.63260	0.2496	L	0.29908	0.895	0.58432	D	0.99999	B;B;B	0.19817	0.017;0.019;0.039	B;B;B	0.18561	0.01;0.022;0.01	T	0.57854	-0.7739	9	0.17369	T	0.5	.	15.9084	0.79447	0.0:1.0:0.0:0.0	.	794;1055;1070	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	V	1040;1055;794;1070;1040	ENSP00000385185:A1040V;ENSP00000446466:A1055V;ENSP00000404047:A794V;ENSP00000269571:A1070V;ENSP00000443562:A1040V	ENSP00000269571:A1070V	A	+	2	0	ERBB2	35137123	0.667000	0.27484	0.997000	0.53966	0.976000	0.68499	2.804000	0.47931	2.515000	0.84797	0.561000	0.74099	GCC		0.617	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			T	37883597	C	T	37883597	3	4	688	1	0	0	0	0	1	0	0	0	5208	739	26	2	3311	2	ERBB2	17	37883597	Missense_Mutation	SNP	C	TCGA-IZ-A6M9-01A-11D-A31X-10	542478	37883597	43311613	47	38086											
C17orf77	146723	hgsc.bcm.edu	37	17	72588562	72588562	+	Missense_Mutation	SNP	G	G	T			TCGA-IZ-A6M9-01A-11D-A31X-10	TCGA-IZ-A6M9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0541b2e4-13f8-4845-a6ba-6dfde158bc09	558c1803-c4c2-42cb-82cb-f3e277bf9beb	g.chr17:72588562G>T	ENST00000392620.1	+	3	739	c.377G>T	c.(376-378)tGc>tTc	p.C126F	C17orf77_ENST00000328023.2_Missense_Mutation_p.C126F|CD300LD_ENST00000375352.1_5'Flank	NM_152460.2	NP_689673.2	Q96MU5	CQ077_HUMAN	chromosome 17 open reading frame 77	126	Cys-rich.					extracellular region (GO:0005576)				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						TGCAAGGTGTGCCCAAACTTT	0.458																																																0													151	143	145					17																	72588562		2203	4300	6503	SO:0001583	missense	146723				CCDS32721.1	17q25.1	2006-01-16			ENSG00000182352	ENSG00000182352			26480	protein-coding gene	gene with protein product							Standard	NM_152460		Approved	FLJ31882	uc002jla.1	Q96MU5	OTTHUMG00000067611	ENST00000392620.1:c.377G>T	chr17.hg19:g.72588562G>T	ENSP00000376396:p.Cys126Phe			Missense_Mutation	SNP	ENST00000392620.1	hg19	CCDS32721.1	.	.	.	.	.	.	.	.	.	.	G	2.196	-0.384056	0.04966	.	.	ENSG00000182352	ENST00000392620;ENST00000328023	T;T	0.55760	0.5;0.5	2.64	1.62	0.23740	.	.	.	.	.	T	0.39436	0.1078	N	0.08118	0	0.09310	N	1	D	0.59767	0.986	P	0.53861	0.736	T	0.18650	-1.0330	8	.	.	.	.	7.2654	0.26227	0.0:0.2771:0.7229:0.0	.	126	Q96MU5	CQ077_HUMAN	F	126	ENSP00000376396:C126F;ENSP00000329353:C126F	.	C	+	2	0	C17orf77	70100157	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.150000	0.16263	0.651000	0.30788	0.609000	0.83330	TGC		0.458	C17orf77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145090.2	NM_152460		T	72588562	G	T	72588562	3	4	688	1	0	0	0	0	1	0	0	0	1884	1319	46	4	379	4	C17orf77	17	72588562	Missense_Mutation	SNP	G	TCGA-IZ-A6M9-01A-11D-A31X-10	34704965	72588562	8606648	48	38087											
MARCH2	51257	hgsc.bcm.edu	37	19	8503277	8503277	+	Silent	SNP	C	C	T			TCGA-IZ-A6M9-01A-11D-A31X-10	TCGA-IZ-A6M9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0541b2e4-13f8-4845-a6ba-6dfde158bc09	558c1803-c4c2-42cb-82cb-f3e277bf9beb	g.chr19:8503277C>T	ENST00000602117.1	+	5	1043	c.588C>T	c.(586-588)tcC>tcT	p.S196S	MARCH2_ENST00000215555.2_Silent_p.S196S|MARCH2_ENST00000381035.4_Silent_p.S126S|MARCH2_ENST00000601283.1_Intron|MARCH2_ENST00000393944.1_Silent_p.S196S			Q9P0N8	MARH2_HUMAN	membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase	196					endocytosis (GO:0006897)|protein ubiquitination (GO:0016567)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|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(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1)	10						CACAGGTCTCCTTCCGCTACC	0.637																																																0													54	54	54					19																	8503277		2203	4300	6503	SO:0001819	synonymous_variant	51257			AF151074	CCDS12202.1, CCDS32894.1	19p13.2	2013-01-09	2012-02-23			ENSG00000099785		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	28038	protein-coding gene	gene with protein product		613332	"membrane-associated ring finger (C3HC4) 2"			11042152, 14722266	Standard	NM_016496		Approved	HSPC240, MARCH-II, RNF172	uc002mjw.3	Q9P0N8		ENST00000602117.1:c.588C>T	chr19.hg19:g.8503277C>T			A6NP10|Q5H785|Q8N5A3|Q96B78	Silent	SNP	ENST00000602117.1	hg19	CCDS12202.1																																																																																				0.637	MARCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460361.2	NM_016496		T	8503277	C	T	8503277	2	4	688	1	0	0	0	0	0	0	0	1	9303	668	24	2		2	MARCH2	19	8503277	Silent	SNP	C	TCGA-IZ-A6M9-01A-11D-A31X-10		8503277	50625706	49	38088											
MAG	4099	hgsc.bcm.edu	37	19	35804347	35804347	+	Missense_Mutation	SNP	G	G	T			TCGA-IZ-A6M9-01A-11D-A31X-10	TCGA-IZ-A6M9-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0541b2e4-13f8-4845-a6ba-6dfde158bc09	558c1803-c4c2-42cb-82cb-f3e277bf9beb	g.chr19:35804347G>T	ENST00000392213.3	+	11	2030	c.1871G>T	c.(1870-1872)cGg>cTg	p.R624L	MAG_ENST00000361922.4_3'UTR|MAG_ENST00000537831.2_Missense_Mutation_p.R599L	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	624					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GCTGAAATCCGGGTCAAGTGA	0.627																																																0													53	44	47					19																	35804347		2203	4300	6503	SO:0001583	missense	4099			M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6783	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 4A"	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.1871G>T	chr19.hg19:g.35804347G>T	ENSP00000376048:p.Arg624Leu		B7Z2E5|F5GYC0|Q567S4	Missense_Mutation	SNP	ENST00000392213.3	hg19	CCDS12455.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.992488	0.74703	.	.	ENSG00000105695	ENST00000262624;ENST00000392213;ENST00000537831	T;T	0.70399	-0.48;-0.38	4.43	4.43	0.53597	.	0.205101	0.40554	N	0.001064	T	0.64193	0.2576	N	0.19112	0.55	0.36382	D	0.861966	D	0.63880	0.993	P	0.51229	0.663	T	0.74247	-0.3727	10	0.72032	D	0.01	.	12.4	0.55407	0.0:0.0:1.0:0.0	.	624	P20916	MAG_HUMAN	L	661;624;599	ENSP00000376048:R624L;ENSP00000440695:R599L	ENSP00000262624:R661L	R	+	2	0	MAG	40496187	1.000000	0.71417	0.939000	0.37840	0.958000	0.62258	5.034000	0.64152	2.274000	0.75844	0.462000	0.41574	CGG		0.627	MAG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466071.1	NM_080600		T	35804347	G	T	35804347	3	4	688	1	0	0	0	0	1	0	0	0	9164	1116	39	4	1942	4	MAG	19	35804347	Missense_Mutation	SNP	G	TCGA-IZ-A6M9-01A-11D-A31X-10	27301070	35804347	23324636	50	38089											
EPB41L1	2036	hgsc.bcm.edu	37	20	34765954	34765956	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-IZ-A6M9-01A-11D-A31X-10	TCGA-IZ-A6M9-10A-01D-A31X-10	CTT	CTT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0541b2e4-13f8-4845-a6ba-6dfde158bc09	558c1803-c4c2-42cb-82cb-f3e277bf9beb	g.chr20:34765954_34765956delCTT	ENST00000338074.2	+	4	584_586	c.423_425delCTT	c.(421-426)accttc>acc	p.F142del	EPB41L1_ENST00000373946.3_In_Frame_Del_p.F111del|EPB41L1_ENST00000373950.2_Intron|EPB41L1_ENST00000441639.1_In_Frame_Del_p.F80del|EPB41L1_ENST00000373941.1_In_Frame_Del_p.F142del|EPB41L1_ENST00000202028.5_In_Frame_Del_p.F80del	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	142	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)					TCGGCCTGACCTTCTGTGATGCT	0.576																																																0																																										SO:0001651	inframe_deletion	2036			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.423_425delCTT	chr20.hg19:g.34765954_34765956delCTT	ENSP00000337168:p.Phe142del		O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	In_Frame_Del	DEL	ENST00000338074.2	hg19	CCDS13271.1																																																																																				0.576	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078978.3	NM_012156		-	34765956	CTT	-	34765954	7	5	688	1	0	1	0	1	0	0	0	0	5154	668	24	0	433	0	EPB41L1	20	34765954	In_Frame_Del	DEL	CTT	TCGA-IZ-A6M9-01A-11D-A31X-10		34765954	28259566	51	38090											
MORC2	22880	hgsc.bcm.edu	37	22	31345772	31345772	+	Missense_Mutation	SNP	T	T	G			TCGA-IZ-A6M9-01A-11D-A31X-10	TCGA-IZ-A6M9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0541b2e4-13f8-4845-a6ba-6dfde158bc09	558c1803-c4c2-42cb-82cb-f3e277bf9beb	g.chr22:31345772T>G	ENST00000397641.3	-	5	691	c.283A>C	c.(283-285)Act>Cct	p.T95P	MORC2_ENST00000215862.4_Missense_Mutation_p.T33P			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	95						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						CCAATCTGAGTAGACTCAGGT	0.463																																																0													139	127	131					22																	31345772		2203	4300	6503	SO:0001583	missense	22880			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.283A>C	chr22.hg19:g.31345772T>G	ENSP00000380763:p.Thr95Pro		B2RNB1|Q9UF28|Q9Y6V2	Missense_Mutation	SNP	ENST00000397641.3	hg19		.	.	.	.	.	.	.	.	.	.	T	26.9	4.777606	0.90195	.	.	ENSG00000133422	ENST00000397641;ENST00000215862	D;D	0.95205	-3.64;-3.64	5.62	5.62	0.85841	ATPase-like, ATP-binding domain (4);	0.050861	0.85682	D	0.000000	D	0.94968	0.8372	L	0.35341	1.055	0.80722	D	1	D	0.89917	1.0	D	0.70487	0.969	D	0.94117	0.7376	10	0.30854	T	0.27	.	15.8169	0.78608	0.0:0.0:0.0:1.0	.	95	Q9Y6X9	MORC2_HUMAN	P	95;33	ENSP00000380763:T95P;ENSP00000215862:T33P	ENSP00000215862:T33P	T	-	1	0	MORC2	29675772	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.698000	0.84413	2.151000	0.67156	0.482000	0.46254	ACT		0.463	MORC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000321710.2	NM_014941		G	31345772	T	G	31345772	3	3	688	1	0	0	0	0	1	0	0	0	9704	1638	57	5	2903	5	MORC2	22	31345772	Missense_Mutation	SNP	T	TCGA-IZ-A6M9-01A-11D-A31X-10		31345772	19958794	52	38091											
MAGED2	10916	hgsc.bcm.edu	37	X	54841947	54841947	+	Silent	SNP	C	C	T			TCGA-IZ-A6M9-01A-11D-A31X-10	TCGA-IZ-A6M9-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0541b2e4-13f8-4845-a6ba-6dfde158bc09	558c1803-c4c2-42cb-82cb-f3e277bf9beb	g.chrX:54841947C>T	ENST00000375068.1	+	12	1886	c.1653C>T	c.(1651-1653)gcC>gcT	p.A551A	MAGED2_ENST00000396224.1_Silent_p.A551A|MAGED2_ENST00000375062.4_Silent_p.A466A|MAGED2_ENST00000347546.4_Silent_p.A533A|MAGED2_ENST00000375053.2_Silent_p.A551A|SNORA11_ENST00000408789.1_RNA|MAGED2_ENST00000218439.4_Silent_p.A551A|MAGED2_ENST00000375060.1_Silent_p.A466A|MAGED2_ENST00000375058.1_Silent_p.A551A			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	551						membrane (GO:0016020)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						gcactggtgccagtaccagta	0.602																																																0													35	28	30					X																	54841947		2197	4291	6488	SO:0001819	synonymous_variant	10916			AF128527	CCDS14362.1	Xp11.2	2008-08-01			ENSG00000102316	ENSG00000102316			16353	protein-coding gene	gene with protein product	"hepatocellular carcinoma associated protein", "breast cancer associated gene 1", "melanoma-associated antigen D2", "hepatocellular carcinoma-associated protein HCA10"	300470					Standard	NM_014599		Approved	JCL-1, BCG1, 11B6, MAGE-D2, HCA10, MAGED, MGC8386	uc004dtk.1	Q9UNF1	OTTHUMG00000021638	ENST00000375068.1:c.1653C>T	chrX.hg19:g.54841947C>T			A6NMX0|O76058|Q5BJF3|Q8NAL6|Q9H218|Q9P0U9|Q9UM52	Silent	SNP	ENST00000375068.1	hg19	CCDS14362.1																																																																																				0.602	MAGED2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056821.2	NM_014599		T	54841947	C	T	54841947	2	4	688	1	0	0	0	0	0	0	0	1	9186	581	21	2		2	MAGED2	23	54841947	Silent	SNP	C	TCGA-IZ-A6M9-01A-11D-A31X-10		54841947	100428613	53	38092											
TCEAL4	79921	hgsc.bcm.edu	37	X	102841929	102841929	+	Missense_Mutation	SNP	A	A	T			TCGA-IZ-A6M9-01A-11D-A31X-10	TCGA-IZ-A6M9-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0541b2e4-13f8-4845-a6ba-6dfde158bc09	558c1803-c4c2-42cb-82cb-f3e277bf9beb	g.chrX:102841929A>T	ENST00000472745.1	+	3	878	c.326A>T	c.(325-327)gAa>gTa	p.E109V	TCEAL4_ENST00000494801.1_Missense_Mutation_p.E109V|TCEAL4_ENST00000415568.2_Missense_Mutation_p.E109V|TCEAL4_ENST00000468024.1_Missense_Mutation_p.E109V|TCEAL4_ENST00000472484.1_Missense_Mutation_p.E109V|TCEAL4_ENST00000372629.4_Missense_Mutation_p.E252V			Q96EI5	TCAL4_HUMAN	transcription elongation factor A (SII)-like 4	109	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(2)|skin(2)	6						CCAGGGAGTGAAACAAGGGCT	0.507																																																0													67	67	67					X																	102841929		2203	4300	6503	SO:0001583	missense	79921			AF314542	CCDS14510.2, CCDS76004.1	Xq22.2	2014-03-21			ENSG00000133142	ENSG00000133142			26121	protein-coding gene	gene with protein product						14702039, 16221301	Standard	XM_005262192		Approved	FLJ21174, WEX7	uc004ekn.3	Q96EI5	OTTHUMG00000022103	ENST00000472745.1:c.326A>T	chrX.hg19:g.102841929A>T	ENSP00000424314:p.Glu109Val		Q8WY12|Q9H2H1|Q9H775	Missense_Mutation	SNP	ENST00000472745.1	hg19	CCDS14510.2	.	.	.	.	.	.	.	.	.	.	A	10.28	1.307826	0.23821	.	.	ENSG00000133142	ENST00000372629;ENST00000468024;ENST00000472484;ENST00000415568;ENST00000414064;ENST00000472745;ENST00000494801;ENST00000469586	T;T;T;T;T;T;T	0.35973	1.32;1.28;1.28;1.28;1.28;1.28;1.44	3.99	1.55	0.23275	.	0.216564	0.23312	N	0.049559	T	0.38214	0.1032	M	0.63843	1.955	0.09310	N	1	P	0.38250	0.624	P	0.45577	0.486	T	0.25187	-1.0139	10	0.56958	D	0.05	.	5.2758	0.15649	0.7556:0.0:0.2444:0.0	.	109	Q96EI5	TCAL4_HUMAN	V	252;109;109;109;80;109;109;109	ENSP00000361712:E252V;ENSP00000421857:E109V;ENSP00000421156:E109V;ENSP00000415564:E109V;ENSP00000424314:E109V;ENSP00000427494:E109V;ENSP00000427053:E109V	ENSP00000361712:E252V	E	+	2	0	TCEAL4	102728585	0.003000	0.15002	0.001000	0.08648	0.387000	0.30353	1.156000	0.31712	0.221000	0.20879	-0.681000	0.03757	GAA		0.507	TCEAL4-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252339.2	NM_024863		T	102841929	A	T	102841929	3	4	688	1	0	0	0	0	1	0	0	0	15678	246	9	5	328	5	TCEAL4	23	102841929	Missense_Mutation	SNP	A	TCGA-IZ-A6M9-01A-11D-A31X-10	47999982	102841929	52428631	54	38093											
SLC25A5	292	hgsc.bcm.edu	37	X	118603720	118603720	+	Missense_Mutation	SNP	T	T	G			TCGA-IZ-A6M9-01A-11D-A31X-10	TCGA-IZ-A6M9-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0541b2e4-13f8-4845-a6ba-6dfde158bc09	558c1803-c4c2-42cb-82cb-f3e277bf9beb	g.chrX:118603720T>G	ENST00000317881.8	+	2	324	c.208T>G	c.(208-210)Ttc>Gtc	p.F70V	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	70					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)	AGTTCTGTCCTTCTGGCGCGG	0.498																																																0													166	157	160					X																	118603720		2203	4300	6503	SO:0001583	missense	292			BC068199	CCDS14578.1	Xq24	2013-08-09			ENSG00000005022	ENSG00000005022		"Solute carriers"	10991	protein-coding gene	gene with protein product		300150		ANT2		2168878, 2829183	Standard	NM_001152		Approved	T2, 2F1, T3	uc004erh.4	P05141	OTTHUMG00000022715	ENST00000317881.8:c.208T>G	chrX.hg19:g.118603720T>G	ENSP00000360671:p.Phe70Val		B2RCV1|O43350	Missense_Mutation	SNP	ENST00000317881.8	hg19	CCDS14578.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.010876	0.75046	.	.	ENSG00000005022	ENST00000317881	T	0.80214	-1.35	4.18	4.18	0.49190	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.90290	0.6963	M	0.90198	3.095	0.58432	D	0.999999	D	0.63880	0.993	D	0.69824	0.966	D	0.91908	0.5537	10	0.87932	D	0	.	12.1849	0.54231	0.0:0.0:0.0:1.0	.	70	P05141	ADT2_HUMAN	V	70	ENSP00000360671:F70V	ENSP00000360671:F70V	F	+	1	0	SLC25A5	118487748	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.575000	0.82447	1.622000	0.50330	0.430000	0.28490	TTC		0.498	SLC25A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058952.2	NM_001152		G	118603720	T	G	118603720	3	3	688	1	0	0	0	0	1	0	0	0	14518	1609	56	5	214	5	SLC25A5	23	118603720	Missense_Mutation	SNP	T	TCGA-IZ-A6M9-01A-11D-A31X-10	15761791	118603720	36666840	55	38094											
SFN	2810	hgsc.bcm.edu	37	1	27189915	27189915	+	Missense_Mutation	SNP	A	A	G			TCGA-J7-6720-01A-11D-2136-08	TCGA-J7-6720-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f51e571-67b3-4e0a-a5b5-bdc9a788d1d1	ee153c70-16dc-47aa-b326-e5341dc09b2f	g.chr1:27189915A>G	ENST00000339276.4	+	1	283	c.212A>G	c.(211-213)gAg>gGg	p.E71G		NM_006142.3	NP_006133.1	Q9Y3B8	ORN_HUMAN	stratifin	0	Exonuclease.				nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide metabolic process (GO:0009117)	focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	9		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)		AAAAGCAACGAGGAGGGCTCG	0.627																																																0													69	74	72					1																	27189915		2203	4300	6503	SO:0001583	missense	2810			BC023552	CCDS288.1	1p36.11	2008-02-05			ENSG00000175793	ENSG00000175793			10773	protein-coding gene	gene with protein product	"14-3-3 sigma"	601290				8515476	Standard	NM_006142		Approved	YWHAS	uc001bnc.1	P31947	OTTHUMG00000004093	ENST00000339276.4:c.212A>G	chr1.hg19:g.27189915A>G	ENSP00000340989:p.Glu71Gly		B2R532|Q32Q18|Q53FT1|Q6FIC6|Q9UFY7	Missense_Mutation	SNP	ENST00000339276.4	hg19	CCDS288.1	.	.	.	.	.	.	.	.	.	.	A	11.09	1.535187	0.27475	.	.	ENSG00000175793	ENST00000339276;ENST00000538651	T	0.39787	1.06	5.96	5.96	0.96718	14-3-3 domain (4);	0.106868	0.41396	D	0.000892	T	0.16938	0.0407	N	0.00873	-1.125	0.27459	N	0.9532	B	0.02656	0.0	B	0.04013	0.001	T	0.13818	-1.0495	10	0.54805	T	0.06	-27.1227	12.0125	0.53295	0.8558:0.1442:0.0:0.0	.	71	P31947	1433S_HUMAN	G	71	ENSP00000340989:E71G	ENSP00000340989:E71G	E	+	2	0	SFN	27062502	1.000000	0.71417	0.994000	0.49952	0.719000	0.41307	4.148000	0.58085	2.270000	0.75569	0.533000	0.62120	GAG		0.627	SFN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011709.1	NM_006142		G	27189915	A	G	27189915	3	3	689	1	0	0	0	0	1	0	0	0	14165	304	11	3	214	3	SFN	1	27189915	Missense_Mutation	SNP	A	TCGA-J7-6720-01A-11D-2136-08		27189915	222060706	1	38095											
GPR3	2827	hgsc.bcm.edu	37	1	27720330	27720350	+	In_Frame_Del	DEL	GCCTGGCTCTCAGCTGGCTCA	GCCTGGCTCTCAGCTGGCTCA	-			TCGA-J7-6720-01A-11D-2136-08	TCGA-J7-6720-10A-01D-2136-08	GCCTGGCTCTCAGCTGGCTCA	GCCTGGCTCTCAGCTGGCTCA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f51e571-67b3-4e0a-a5b5-bdc9a788d1d1	ee153c70-16dc-47aa-b326-e5341dc09b2f	g.chr1:27720330_27720350delGCCTGGCTCTCAGCTGGCTCA	ENST00000374024.3	+	2	127_147	c.28_48delGCCTGGCTCTCAGCTGGCTCA	c.(28-48)gcctggctctcagctggctcadel	p.AWLSAGS10del		NM_005281.3	NP_005272.1	P46089	GPR3_HUMAN	G protein-coupled receptor 3	10					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|regulation of meiosis (GO:0040020)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|lung(3)|ovary(1)|skin(1)	8		Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419)		CAGCCCTCTGGCCTGGCTCTCAGCTGGCTCAGGCAACGTGA	0.633																																																0																																										SO:0001651	inframe_deletion	2827			BC032702	CCDS303.1	1p36.1-p35	2012-08-21			ENSG00000181773	ENSG00000181773		"GPCR / Class A : Orphans"	4484	protein-coding gene	gene with protein product		600241				7851889	Standard	NM_005281		Approved	ACCA	uc001bod.4	P46089	OTTHUMG00000003397	ENST00000374024.3:c.28_48delGCCTGGCTCTCAGCTGGCTCA	chr1.hg19:g.27720330_27720350delGCCTGGCTCTCAGCTGGCTCA	ENSP00000363136:p.Ala10_Ser16del		A8K570	In_Frame_Del	DEL	ENST00000374024.3	hg19	CCDS303.1																																																																																				0.633	GPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009522.1	NM_005281		-	27720350	GCCTGGCTCTCAGCTGGCTCA	-	27720330	7	5	689	1	0	1	0	1	0	0	0	0	6688	1203	42	0	30	0	GPR3	1	27720330	In_Frame_Del	DEL	GCCTGGCTCTCAGCTGGCTCA	TCGA-J7-6720-01A-11D-2136-08	530415	27720330	221530291	2	38096											
PIAS3	10401	hgsc.bcm.edu	37	1	145578967	145578967	+	Missense_Mutation	SNP	C	C	T			TCGA-J7-6720-01A-11D-2136-08	TCGA-J7-6720-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f51e571-67b3-4e0a-a5b5-bdc9a788d1d1	ee153c70-16dc-47aa-b326-e5341dc09b2f	g.chr1:145578967C>T	ENST00000393045.2	+	4	635	c.545C>T	c.(544-546)gCc>gTc	p.A182V	PIAS3_ENST00000369298.1_Missense_Mutation_p.A147V|PIAS3_ENST00000369299.3_Missense_Mutation_p.A173V	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	182	PINIT. {ECO:0000255|PROSITE- ProRule:PRU00799}.				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)					CTGCCAGGAGCCAAATGTGAT	0.527																																																0													109	97	101					1																	145578967		2203	4300	6503	SO:0001583	missense	10401			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.545C>T	chr1.hg19:g.145578967C>T	ENSP00000376765:p.Ala182Val		Q9UFI3	Missense_Mutation	SNP	ENST00000393045.2	hg19	CCDS920.2	.	.	.	.	.	.	.	.	.	.	C	14.25	2.478871	0.44044	.	.	ENSG00000131788	ENST00000393046;ENST00000369299;ENST00000393045;ENST00000369298	T;T;T;T	0.44881	0.93;0.91;1.54;1.51	4.33	4.33	0.51752	PINIT domain (1);	0.000000	0.49916	D	0.000123	T	0.13841	0.0335	N	0.17474	0.49	0.38130	D	0.938123	B;P	0.47841	0.024;0.901	B;B	0.41088	0.061;0.347	T	0.03240	-1.1057	10	0.13108	T	0.6	-12.7129	14.3972	0.67020	0.0:1.0:0.0:0.0	.	173;182	F8WA94;Q9Y6X2	.;PIAS3_HUMAN	V	173;173;182;147	ENSP00000376766:A173V;ENSP00000358305:A173V;ENSP00000376765:A182V;ENSP00000358304:A147V	ENSP00000358304:A147V	A	+	2	0	PIAS3	144290324	0.999000	0.42202	1.000000	0.80357	0.582000	0.36321	1.616000	0.36933	2.230000	0.72887	0.655000	0.94253	GCC		0.527	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038533.4	NM_006099		T	145578967	C	T	145578967	3	4	689	1	0	0	0	0	1	0	0	0	11879	739	26	2	559	2	PIAS3	1	145578967	Missense_Mutation	SNP	C	TCGA-J7-6720-01A-11D-2136-08	117858637	145578967	103671654	3	38097											
C1orf182	128229	hgsc.bcm.edu	37	1	156309583	156309583	+	Splice_Site	SNP	G	G	C	rs113369857		TCGA-J7-6720-01A-11D-2136-08	TCGA-J7-6720-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f51e571-67b3-4e0a-a5b5-bdc9a788d1d1	ee153c70-16dc-47aa-b326-e5341dc09b2f	g.chr1:156309583G>C	ENST00000368255.3	+	2	394		c.e2+1		TSACC_ENST00000470342.1_Splice_Site|CCT3_ENST00000368261.3_5'Flank|CCT3_ENST00000472765.2_5'Flank|CCT3_ENST00000295688.3_5'Flank|TSACC_ENST00000368253.2_Splice_Site|CCT3_ENST00000368256.3_5'Flank|TSACC_ENST00000481479.1_Splice_Site|TSACC_ENST00000368252.1_Splice_Site|TSACC_ENST00000368254.1_Splice_Site|TSACC_ENST00000368251.1_Splice_Site|TSACC_ENST00000466306.1_Splice_Site|CCT3_ENST00000368259.2_5'Flank	NM_144627.3	NP_653228.1	Q96A04	TSACC_HUMAN	TSSK6 activating co-chaperone							cytoplasm (GO:0005737)	chaperone binding (GO:0051087)										AACAGAAAAGGTGTGTGTTGG	0.483																																																0													147	127	134					1																	156309583		2203	4300	6503	SO:0001630	splice_region_variant	128229			AY048672	CCDS1141.1	1q22	2012-08-16	2012-08-16	2012-08-16	ENSG00000163467	ENSG00000163467			30636	protein-coding gene	gene with protein product	"SSTK-interacting protein"		"chromosome 1 open reading frame 182"	C1orf182		20829357	Standard	NM_144627		Approved	SSTK-IP, SIP	uc001foo.3	Q96A04	OTTHUMG00000024060	ENST00000368255.3:c.34+1G>C	chr1.hg19:g.156309583G>C			D3DVB9	Splice_Site	SNP	ENST00000368255.3	hg19	CCDS1141.1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.792835	0.50102	.	.	ENSG00000163467	ENST00000368255;ENST00000368254;ENST00000368253;ENST00000368252;ENST00000368251	.	.	.	2.76	2.76	0.32466	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.1866	0.37174	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C1orf182	154576207	1.000000	0.71417	0.995000	0.50966	0.965000	0.64279	2.090000	0.41682	1.852000	0.53769	0.467000	0.42956	.		0.483	TSACC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060594.1	NM_144627	Intron	C	156309583	G	C	156309583	5	2	689	1	0	0	0	0	0	0	1	0	2020	1275	44	4	37	4	C1orf182	1	156309583	Splice_Site	SNP	G	TCGA-J7-6720-01A-11D-2136-08	10730616	156309583	92941038	4	38098											
CALCRL	10203	hgsc.bcm.edu	37	2	188245425	188245425	+	Missense_Mutation	SNP	A	A	G			TCGA-J7-6720-01A-11D-2136-08	TCGA-J7-6720-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f51e571-67b3-4e0a-a5b5-bdc9a788d1d1	ee153c70-16dc-47aa-b326-e5341dc09b2f	g.chr2:188245425A>G	ENST00000409998.1	-	7	1055	c.274T>C	c.(274-276)Ttt>Ctt	p.F92L	AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000392370.3_Missense_Mutation_p.F92L|CALCRL_ENST00000410068.1_Missense_Mutation_p.F92L|AC007319.1_ENST00000412276.1_RNA			Q16602	CALRL_HUMAN	calcitonin receptor-like	92					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|angiogenesis (GO:0001525)|calcium ion transport (GO:0006816)|cAMP biosynthetic process (GO:0006171)|cellular response to sucrose stimulus (GO:0071329)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|heart development (GO:0007507)|negative regulation of inflammatory response (GO:0050728)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of muscle contraction (GO:0006937)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	adrenomedullin receptor activity (GO:0001605)|calcitonin gene-related polypeptide receptor activity (GO:0001635)|calcitonin receptor activity (GO:0004948)|G-protein coupled receptor activity (GO:0004930)|protein transporter activity (GO:0008565)			endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			AAGTCCTGAAAGTAATCAGGG	0.418																																																0													68	66	67					2																	188245425		2203	4300	6503	SO:0001583	missense	10203			U17473	CCDS2293.1	2q21.1-q21.3	2012-08-10			ENSG00000064989	ENSG00000064989		"GPCR / Class B : Calcitonin receptors"	16709	protein-coding gene	gene with protein product		114190				7818539, 8626685	Standard	NM_005795		Approved	CGRPR, CRLR	uc010frt.4	Q16602	OTTHUMG00000132636	ENST00000409998.1:c.274T>C	chr2.hg19:g.188245425A>G	ENSP00000386972:p.Phe92Leu		A8K6G5|A8KAD3|Q53S02|Q53TS5	Missense_Mutation	SNP	ENST00000409998.1	hg19	CCDS2293.1	.	.	.	.	.	.	.	.	.	.	A	31	5.083990	0.94100	.	.	ENSG00000064989	ENST00000392370;ENST00000409998;ENST00000410068	T;T;T	0.64803	-0.12;-0.12;-0.12	5.29	5.29	0.74685	GPCR, family 2, extracellular hormone receptor domain (3);	0.000000	0.64402	D	0.000002	T	0.54886	0.1886	L	0.42008	1.315	0.80722	D	1	P	0.46220	0.874	B	0.42495	0.389	T	0.53041	-0.8494	10	0.25751	T	0.34	.	13.2254	0.59912	1.0:0.0:0.0:0.0	.	92	Q16602	CALRL_HUMAN	L	92	ENSP00000376177:F92L;ENSP00000386972:F92L;ENSP00000387190:F92L	ENSP00000376177:F92L	F	-	1	0	CALCRL	187953670	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.861000	0.75478	2.221000	0.72209	0.455000	0.32223	TTT		0.418	CALCRL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334648.1	NM_005795		G	188245425	A	G	188245425	3	3	689	1	0	0	0	0	1	0	0	0	2582	72	3	3	1151	3	CALCRL	2	188245425	Missense_Mutation	SNP	A	TCGA-J7-6720-01A-11D-2136-08		188245425	54953948	5	38099											
WDR12	55759	hgsc.bcm.edu	37	2	203762106	203762106	+	Missense_Mutation	SNP	C	C	T			TCGA-J7-6720-01A-11D-2136-08	TCGA-J7-6720-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f51e571-67b3-4e0a-a5b5-bdc9a788d1d1	ee153c70-16dc-47aa-b326-e5341dc09b2f	g.chr2:203762106C>T	ENST00000261015.4	-	5	1120	c.371G>A	c.(370-372)cGg>cAg	p.R124Q	WDR12_ENST00000477723.1_5'Flank	NM_018256.3	NP_060726.3			WD repeat domain 12											endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						GGACCAGATCCGAGAAGTCTT	0.383																																																0													105	97	100					2																	203762106		2203	4300	6503	SO:0001583	missense	55759			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.371G>A	chr2.hg19:g.203762106C>T	ENSP00000261015:p.Arg124Gln			Missense_Mutation	SNP	ENST00000261015.4	hg19	CCDS2356.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.695498	0.48202	.	.	ENSG00000138442	ENST00000261015	T	0.67865	-0.29	5.33	4.45	0.53987	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.056455	0.64402	N	0.000001	T	0.70570	0.3239	M	0.87827	2.91	0.53688	D	0.999978	B;B	0.21753	0.06;0.06	B;B	0.13407	0.009;0.009	T	0.71034	-0.4709	10	0.56958	D	0.05	-7.5369	13.8674	0.63596	0.0:0.9263:0.0:0.0737	.	124;124	Q53T99;Q9GZL7	.;WDR12_HUMAN	Q	124	ENSP00000261015:R124Q	ENSP00000261015:R124Q	R	-	2	0	WDR12	203470351	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.869000	0.63028	1.229000	0.43630	-0.218000	0.12543	CGG		0.383	WDR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256329.4	NM_018256		T	203762106	C	T	203762106	3	4	689	1	0	0	0	0	1	0	0	0	17279	652	23	1	936	1	WDR12	2	203762106	Missense_Mutation	SNP	C	TCGA-J7-6720-01A-11D-2136-08	15516681	203762106	39437267	6	38100											
COL4A3	1285	hgsc.bcm.edu	37	2	228145271	228145271	+	Missense_Mutation	SNP	G	G	T			TCGA-J7-6720-01A-11D-2136-08	TCGA-J7-6720-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f51e571-67b3-4e0a-a5b5-bdc9a788d1d1	ee153c70-16dc-47aa-b326-e5341dc09b2f	g.chr2:228145271G>T	ENST00000396578.3	+	30	2501	c.2339G>T	c.(2338-2340)gGa>gTa	p.G780V	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	780	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GGTCTCCCTGGAACTCCAGGA	0.498																																																0			GRCh37	CM034405	COL4A3	M							102	104	103					2																	228145271		1895	4117	6012	SO:0001583	missense	1285				CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"Collagens"	2204	protein-coding gene	gene with protein product	"tumstatin"	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.2339G>T	chr2.hg19:g.228145271G>T	ENSP00000379823:p.Gly780Val		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	ENST00000396578.3	hg19	CCDS42829.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.249670	0.59212	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699	D	0.99353	-5.77	5.49	5.49	0.81192	.	0.000000	0.56097	D	0.000033	D	0.99542	0.9836	M	0.93016	3.37	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	0.98235	1.0485	10	0.87932	D	0	.	16.2931	0.82759	0.0:0.0:1.0:0.0	.	780;780;780;780	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	V	780	ENSP00000379823:G780V	ENSP00000323334:G780V	G	+	2	0	COL4A3	227853515	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.405000	0.66351	2.596000	0.87737	0.557000	0.71058	GGA		0.498	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091		T	228145271	G	T	228145271	3	4	689	1	0	0	0	0	1	0	0	0	3693	1174	41	4	2457	4	COL4A3	2	228145271	Missense_Mutation	SNP	G	TCGA-J7-6720-01A-11D-2136-08	24383165	228145271	15054102	7	38101											
FBXO36	130888	hgsc.bcm.edu	37	2	230875429	230875429	+	Silent	SNP	A	A	G			TCGA-J7-6720-01A-11D-2136-08	TCGA-J7-6720-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f51e571-67b3-4e0a-a5b5-bdc9a788d1d1	ee153c70-16dc-47aa-b326-e5341dc09b2f	g.chr2:230875429A>G	ENST00000283946.3	+	4	414	c.396A>G	c.(394-396)aaA>aaG	p.K132K	FBXO36_ENST00000409992.1_Silent_p.K112K|FBXO36_ENST00000373652.3_Silent_p.K101K	NM_174899.4	NP_777559.3	Q8NEA4	FBX36_HUMAN	F-box protein 36	132	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.									endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	7		Renal(207;0.0112)|all_lung(227;0.0179)|Lung NSC(271;0.0804)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;7.56e-14)|all cancers(144;7.74e-11)|Lung(119;0.00488)|LUSC - Lung squamous cell carcinoma(224;0.008)		TGTCTGATAAACTGTGGGAAC	0.532																																																0													63	56	58					2																	230875429		2203	4300	6503	SO:0001819	synonymous_variant	130888			BC033935	CCDS2472.1	2q37.1	2008-02-05	2004-06-15		ENSG00000153832	ENSG00000153832		"F-boxes /  "other""	27020	protein-coding gene	gene with protein product		609105	"F-box only protein 36"			12477932	Standard	NM_174899		Approved	Fbx36, FLJ37592	uc002vqa.3	Q8NEA4	OTTHUMG00000133206	ENST00000283946.3:c.396A>G	chr2.hg19:g.230875429A>G			B3KVQ6|Q53TE6|Q8WWD4	Silent	SNP	ENST00000283946.3	hg19	CCDS2472.1																																																																																				0.532	FBXO36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256919.2	NM_174899		G	230875429	A	G	230875429	2	3	689	1	0	0	0	0	0	0	0	1	5747	40	2	3		3	FBXO36	2	230875429	Silent	SNP	A	TCGA-J7-6720-01A-11D-2136-08	2730158	230875429	12323944	8	38102											
ACY1	95	hgsc.bcm.edu	37	3	52020519	52020519	+	Splice_Site	DEL	G	G	-			TCGA-J7-6720-01A-11D-2136-08	TCGA-J7-6720-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f51e571-67b3-4e0a-a5b5-bdc9a788d1d1	ee153c70-16dc-47aa-b326-e5341dc09b2f	g.chr3:52020519delG	ENST00000404366.2	+	7	671	c.525delG	c.(523-525)gag>ga	p.E175fs	ACY1_ENST00000476854.1_Splice_Site_p.E175fs|ABHD14A-ACY1_ENST00000463937.1_Splice_Site_p.E276fs|ACY1_ENST00000458031.2_Splice_Site_p.E265fs|ACY1_ENST00000476351.1_Splice_Site_p.E140fs|ACY1_ENST00000494103.1_Intron	NM_000666.2|NM_001198895.1	NP_000657.1|NP_001185824.1	Q03154	ACY1_HUMAN	aminoacylase 1	175					cellular amino acid metabolic process (GO:0006520)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aminoacylase activity (GO:0004046)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acetylcysteine(DB06151)|L-Aspartic Acid(DB00128)	CCCTGGATGAGGGTGAGCAGG	0.612																																																0													60	60	60					3																	52020519		2203	4300	6503	SO:0001630	splice_region_variant	95			L07548	CCDS2844.1, CCDS56261.1, CCDS56262.1, CCDS56263.1	3p21.2	2006-02-02			ENSG00000243989	ENSG00000243989	3.5.1.14		177	protein-coding gene	gene with protein product		104620				1707030, 6948533	Standard	NM_000666		Approved		uc003dcq.3	Q03154	OTTHUMG00000157815	ENST00000404366.2:c.526+1G>-	chr3.hg19:g.52020519delG			C9J6I6|C9J9D8|C9JWD4	Frame_Shift_Del	DEL	ENST00000404366.2	hg19	CCDS2844.1																																																																																				0.612	ACY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349657.1	NM_000666	Frame_Shift_Del	-	52020519	G	-	52020519	8	5	689	1	0	1	0	1	0	0	1	0	226	1014	35	0	547	0	ACY1	3	52020519	Splice_Site	DEL	G	TCGA-J7-6720-01A-11D-2136-08		52020519	146001911	9	38103											
TWF2	11344	hgsc.bcm.edu	37	3	52269098	52269098	+	Missense_Mutation	SNP	A	A	G			TCGA-J7-6720-01A-11D-2136-08	TCGA-J7-6720-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f51e571-67b3-4e0a-a5b5-bdc9a788d1d1	ee153c70-16dc-47aa-b326-e5341dc09b2f	g.chr3:52269098A>G	ENST00000305533.5	-	2	293	c.50T>C	c.(49-51)tTt>tCt	p.F17S	TLR9_ENST00000597542.1_5'UTR|TWF2_ENST00000499914.2_Missense_Mutation_p.F17S	NM_007284.3	NP_009215.1	Q6IBS0	TWF2_HUMAN	twinfilin actin-binding protein 2	17	ADF-H 1. {ECO:0000255|PROSITE- ProRule:PRU00599}.				barbed-end actin filament capping (GO:0051016)|cell projection organization (GO:0030030)|cellular response to growth factor stimulus (GO:0071363)|cellular response to retinoic acid (GO:0071300)|negative regulation of actin filament polymerization (GO:0030837)|positive regulation of axon extension (GO:0045773)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of microvillus length (GO:0032532)|sequestering of actin monomers (GO:0042989)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|myofibril (GO:0030016)|perinuclear region of cytoplasm (GO:0048471)|stereocilium (GO:0032420)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|poly(A) RNA binding (GO:0044822)|protein kinase C binding (GO:0005080)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;2.43e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TGCCTTGGCAAAGAATTCCTT	0.572																																																0													112	98	103					3																	52269098		2203	4300	6503	SO:0001583	missense	11344			Y17169	CCDS2849.1	3p21.1	2013-04-25	2013-04-25	2006-11-13	ENSG00000247596	ENSG00000247596			9621	protein-coding gene	gene with protein product		607433	"protein tyrosine kinase 9-like (A6-related protein)", "PTK9L protein tyrosine kinase 9-like (A6-related protein)", "twinfilin, actin-binding protein, homolog 2 (Drosophila)"	PTK9L		10406962, 12807912	Standard	NM_007284		Approved	A6RP, A6r		Q6IBS0	OTTHUMG00000158105	ENST00000305533.5:c.50T>C	chr3.hg19:g.52269098A>G	ENSP00000303908:p.Phe17Ser		Q9Y3F5	Missense_Mutation	SNP	ENST00000305533.5	hg19	CCDS2849.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.727062	0.89390	.	.	ENSG00000247596	ENST00000305533;ENST00000499914	T;T	0.46063	0.88;0.88	4.58	4.58	0.56647	Actin-binding, cofilin/tropomyosin type (2);	.	.	.	.	T	0.71863	0.3390	M	0.93375	3.41	0.48288	D	0.999623	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80141	-0.1506	9	0.87932	D	0	.	13.2613	0.60106	1.0:0.0:0.0:0.0	.	17;17	D6RG15;Q6IBS0	.;TWF2_HUMAN	S	17	ENSP00000303908:F17S;ENSP00000426464:F17S	ENSP00000303908:F17S	F	-	2	0	TWF2	52244138	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.871000	0.92346	1.927000	0.55829	0.459000	0.35465	TTT		0.572	TWF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350199.2			G	52269098	A	G	52269098	3	3	689	1	0	0	0	0	1	0	0	0	16787	14	1	3	1031	3	TWF2	3	52269098	Missense_Mutation	SNP	A	TCGA-J7-6720-01A-11D-2136-08	248579	52269098	145753332	10	38104											
KALRN	8997	hgsc.bcm.edu	37	3	124438147	124438147	+	Missense_Mutation	SNP	A	A	G			TCGA-J7-6720-01A-11D-2136-08	TCGA-J7-6720-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f51e571-67b3-4e0a-a5b5-bdc9a788d1d1	ee153c70-16dc-47aa-b326-e5341dc09b2f	g.chr3:124438147A>G	ENST00000291478.5	+	27	3863	c.3700A>G	c.(3700-3702)Aca>Gca	p.T1234A	KALRN_ENST00000360013.3_Missense_Mutation_p.T2931A|KALRN_ENST00000428018.2_Missense_Mutation_p.T1202A	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2930					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						CACAGCAGCCACATGCTTGCA	0.532																																																0													49	52	51					3																	124438147		2203	4300	6503	SO:0001583	missense	8997			U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	4814	protein-coding gene	gene with protein product	"serine/threonine kinase with Dbl and pleckstrin homology domains"	604605	"huntingtin-associated protein interacting protein (duo)"	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.3700A>G	chr3.hg19:g.124438147A>G	ENSP00000291478:p.Thr1234Ala		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000291478.5	hg19	CCDS3028.1	.	.	.	.	.	.	.	.	.	.	A	8.186	0.794821	0.16327	.	.	ENSG00000160145	ENST00000360013;ENST00000291478;ENST00000428018	T;T;T	0.38560	1.13;1.13;1.13	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);	0.136740	0.50627	D	0.000115	T	0.16896	0.0406	N	0.01209	-0.955	0.29636	N	0.845117	B;B	0.13594	0.008;0.001	B;B	0.14023	0.01;0.003	T	0.05666	-1.0871	10	0.09843	T	0.71	.	15.4077	0.74893	1.0:0.0:0.0:0.0	.	1234;2930	C9JQ37;O60229	.;KALRN_HUMAN	A	2931;1234;1202	ENSP00000353109:T2931A;ENSP00000291478:T1234A;ENSP00000402419:T1202A	ENSP00000291478:T1234A	T	+	1	0	KALRN	125920837	0.999000	0.42202	1.000000	0.80357	0.478000	0.33099	1.735000	0.38176	2.225000	0.72522	0.460000	0.39030	ACA		0.532	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	NM_003947		G	124438147	A	G	124438147	3	3	689	1	0	0	0	0	1	0	0	0	7977	159	6	3	9185	3	KALRN	3	124438147	Missense_Mutation	SNP	A	TCGA-J7-6720-01A-11D-2136-08	72169049	124438147	73584283	11	38105											
FNDC3B	64778	hgsc.bcm.edu	37	3	172025192	172025192	+	Silent	SNP	C	C	G	rs145255541		TCGA-J7-6720-01A-11D-2136-08	TCGA-J7-6720-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f51e571-67b3-4e0a-a5b5-bdc9a788d1d1	ee153c70-16dc-47aa-b326-e5341dc09b2f	g.chr3:172025192C>G	ENST00000336824.4	+	10	1200	c.1101C>G	c.(1099-1101)tcC>tcG	p.S367S	FNDC3B_ENST00000416957.1_Silent_p.S367S|FNDC3B_ENST00000415807.2_Silent_p.S367S	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	367	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		GATCCTGCTCCGAGCCTGTTA	0.502																																																0													154	129	138					3																	172025192		2203	4300	6503	SO:0001819	synonymous_variant	64778			AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"Fibronectin type III domain containing"	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.1101C>G	chr3.hg19:g.172025192C>G			B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Silent	SNP	ENST00000336824.4	hg19	CCDS3217.1																																																																																				0.502	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2	NM_022763		G	172025192	C	G	172025192	2	3	689	1	0	0	0	0	0	0	0	1	5972	639	23	4		4	FNDC3B	3	172025192	Silent	SNP	C	TCGA-J7-6720-01A-11D-2136-08	47587045	172025192	25997238	12	38106											
TBC1D14	57533	hgsc.bcm.edu	37	4	7026865	7026865	+	Missense_Mutation	SNP	C	C	A			TCGA-J7-6720-01A-11D-2136-08	TCGA-J7-6720-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f51e571-67b3-4e0a-a5b5-bdc9a788d1d1	ee153c70-16dc-47aa-b326-e5341dc09b2f	g.chr4:7026865C>A	ENST00000409757.4	+	13	2016	c.1892C>A	c.(1891-1893)aCc>aAc	p.T631N	TBC1D14_ENST00000451522.2_Missense_Mutation_p.T351N|TBC1D14_ENST00000448507.1_Missense_Mutation_p.T631N|TBC1D14_ENST00000446947.2_Missense_Mutation_p.T278N|TBC1D14_ENST00000410031.1_Missense_Mutation_p.T403N	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	631					negative regulation of autophagy (GO:0010507)|recycling endosome to Golgi transport (GO:0071955)|regulation of autophagic vacuole assembly (GO:2000785)	autophagic vacuole (GO:0005776)|Golgi apparatus (GO:0005794)|recycling endosome (GO:0055037)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						GACATCCTGACCAAGATGGAC	0.612																																																0													145	117	127					4																	7026865		2203	4300	6503	SO:0001583	missense	57533			AL833868	CCDS3394.2, CCDS47006.1, CCDS75104.1	4p16.1	2008-01-22			ENSG00000132405	ENSG00000132405			29246	protein-coding gene	gene with protein product		614855				10718198	Standard	NM_020773		Approved	KIAA1322	uc003gjs.4	Q9P2M4	OTTHUMG00000090493	ENST00000409757.4:c.1892C>A	chr4.hg19:g.7026865C>A	ENSP00000386921:p.Thr631Asn		B9A6L5|D3DVT4|E9PAZ6|Q8IW15|Q8NDK3	Missense_Mutation	SNP	ENST00000409757.4	hg19	CCDS3394.2	.	.	.	.	.	.	.	.	.	.	C	14.93	2.681226	0.47886	.	.	ENSG00000132405	ENST00000448507;ENST00000409757;ENST00000410031;ENST00000451522;ENST00000446947	T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97	5.15	5.15	0.70609	Rab-GAP/TBC domain (2);	0.162937	0.53938	D	0.000045	T	0.19287	0.0463	N	0.08118	0	0.58432	D	0.999994	B;B;B	0.34372	0.451;0.02;0.187	B;B;B	0.43838	0.242;0.104;0.433	T	0.25082	-1.0142	10	0.66056	D	0.02	-12.687	17.6366	0.88124	0.0:1.0:0.0:0.0	.	278;351;631	F5GXK4;Q9P2M4-2;Q9P2M4	.;.;TBC14_HUMAN	N	631;631;403;351;278	ENSP00000404041:T631N;ENSP00000386921:T631N;ENSP00000386343:T403N;ENSP00000388886:T351N;ENSP00000405875:T278N	ENSP00000386921:T631N	T	+	2	0	TBC1D14	7077766	0.256000	0.24012	1.000000	0.80357	0.994000	0.84299	1.090000	0.30902	2.409000	0.81822	0.561000	0.74099	ACC		0.612	TBC1D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206981.3	NM_020773		A	7026865	C	A	7026865	3	1	689	1	0	0	0	0	1	0	0	0	15608	507	18	4	1945	4	TBC1D14	4	7026865	Missense_Mutation	SNP	C	TCGA-J7-6720-01A-11D-2136-08		7026865	184127411	13	38107											
PDLIM5	10611	hgsc.bcm.edu	37	4	95496927	95496927	+	Missense_Mutation	SNP	C	C	G	rs200734812		TCGA-J7-6720-01A-11D-2136-08	TCGA-J7-6720-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f51e571-67b3-4e0a-a5b5-bdc9a788d1d1	ee153c70-16dc-47aa-b326-e5341dc09b2f	g.chr4:95496927C>G	ENST00000317968.4	+	5	588	c.452C>G	c.(451-453)aCc>aGc	p.T151S	PDLIM5_ENST00000514743.1_Intron|PDLIM5_ENST00000538141.1_Intron|PDLIM5_ENST00000437932.1_Intron|PDLIM5_ENST00000318007.5_Intron|PDLIM5_ENST00000450793.1_Intron|PDLIM5_ENST00000508216.1_Intron|PDLIM5_ENST00000542407.1_Missense_Mutation_p.T29S|PDLIM5_ENST00000380180.3_Intron	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	151					regulation of dendritic spine morphogenesis (GO:0061001)|regulation of synapse assembly (GO:0051963)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|actinin binding (GO:0042805)|protein kinase C binding (GO:0005080)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		TCTGCCTTCACCCCAGCCCAT	0.542																																																0													332	281	299					4																	95496927		2203	4300	6503	SO:0001583	missense	10611			AF061258	CCDS3641.1, CCDS47103.1, CCDS47104.1, CCDS58915.1, CCDS58916.1, CCDS58917.1, CCDS75166.1	4q22	2006-04-12			ENSG00000163110	ENSG00000163110			17468	protein-coding gene	gene with protein product		605904				15346770	Standard	NM_006457		Approved	LIM, Enh	uc003htk.4	Q96HC4	OTTHUMG00000130973	ENST00000317968.4:c.452C>G	chr4.hg19:g.95496927C>G	ENSP00000321746:p.Thr151Ser		A8K6F9|D6RB78|E9PBF5|O60705|Q56VN4|Q5UW38|Q8WVK0	Missense_Mutation	SNP	ENST00000317968.4	hg19	CCDS3641.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.981800	0.53827	.	.	ENSG00000163110	ENST00000317968;ENST00000542407	T;T	0.58940	0.72;0.3	5.25	5.25	0.73442	.	0.106561	0.64402	D	0.000004	T	0.72566	0.3476	M	0.65975	2.015	0.80722	D	1	D	0.69078	0.997	D	0.70716	0.97	T	0.66337	-0.5949	10	0.13470	T	0.59	.	19.2104	0.93751	0.0:1.0:0.0:0.0	.	151	Q96HC4	PDLI5_HUMAN	S	151;29	ENSP00000321746:T151S;ENSP00000442187:T29S	ENSP00000321746:T151S	T	+	2	0	PDLIM5	95715950	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.993000	0.63895	2.590000	0.87494	0.655000	0.94253	ACC		0.542	PDLIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253586.1			G	95496927	C	G	95496927	3	3	689	1	0	0	0	0	1	0	0	0	11685	507	18	4	466	4	PDLIM5	4	95496927	Missense_Mutation	SNP	C	TCGA-J7-6720-01A-11D-2136-08	88470062	95496927	95657349	14	38108											
SH3RF1	57630	hgsc.bcm.edu	37	4	170028338	170028338	+	Silent	SNP	A	A	G			TCGA-J7-6720-01A-11D-2136-08	TCGA-J7-6720-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f51e571-67b3-4e0a-a5b5-bdc9a788d1d1	ee153c70-16dc-47aa-b326-e5341dc09b2f	g.chr4:170028338A>G	ENST00000284637.9	-	11	2499	c.2158T>C	c.(2158-2160)Ttg>Ctg	p.L720L		NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	720					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)		AGCAACTTCAACAAACCCTTT	0.468																																																0													26	30	29					4																	170028338		2196	4289	6485	SO:0001819	synonymous_variant	57630			BC033203	CCDS34099.1	4q32.3	2013-01-09	2006-02-13	2006-02-13	ENSG00000154447	ENSG00000154447		"RING-type (C3HC4) zinc fingers"	17650	protein-coding gene	gene with protein product	"plenty of SH3 domains"		"SH3 multiple domains 2"	SH3MD2		9482736	Standard	NM_020870		Approved	POSH, RNF142, KIAA1494	uc003isa.1	Q7Z6J0	OTTHUMG00000161010	ENST00000284637.9:c.2158T>C	chr4.hg19:g.170028338A>G			Q05BT2|Q8IW46|Q9HAM2|Q9P234	Silent	SNP	ENST00000284637.9	hg19	CCDS34099.1																																																																																				0.468	SH3RF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363382.3	NM_020870		G	170028338	A	G	170028338	2	3	689	1	0	0	0	0	0	0	0	1	14264	40	2	3		3	SH3RF1	4	170028338	Silent	SNP	A	TCGA-J7-6720-01A-11D-2136-08	74531411	170028338	21125938	15	38109											
GIN1	54826	hgsc.bcm.edu	37	5	102444326	102444335	+	Frame_Shift_Del	DEL	AGTGTAGTTG	AGTGTAGTTG	-	rs371302288		TCGA-J7-6720-01A-11D-2136-08	TCGA-J7-6720-10A-01D-2136-08	AGTGTAGTTG	AGTGTAGTTG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f51e571-67b3-4e0a-a5b5-bdc9a788d1d1	ee153c70-16dc-47aa-b326-e5341dc09b2f	g.chr5:102444326_102444335delAGTGTAGTTG	ENST00000399004.2	-	2	171_180	c.77_86delCAACTACACT	c.(76-87)tcaactacactgfs	p.STTL26fs	GIN1_ENST00000508629.1_Frame_Shift_Del_p.STTL26fs	NM_017676.2	NP_060146.2	Q9NXP7	GIN1_HUMAN	gypsy retrotransposon integrase 1	26					DNA integration (GO:0015074)		nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)		CTCACTTGGCAGTGTAGTTGAATGATATTC	0.343																																																0																																										SO:0001589	frameshift_variant	54826			BC015325	CCDS43349.1	5q21.1	2008-02-11	2007-06-13	2007-06-13		ENSG00000145723			25959	protein-coding gene	gene with protein product	"gypsy integrase 1", "Ty3/Gypsy integrase 1"		"zinc finger, H2C2 domain containing"	ZH2C2		11470852	Standard	NM_017676		Approved	FLJ20125, GIN-1, TGIN1	uc003koa.1	Q9NXP7		ENST00000399004.2:c.77_86delCAACTACACT	chr5.hg19:g.102444326_102444335delAGTGTAGTTG	ENSP00000381970:p.Ser26fs		B2RXF7|B4DIV4|Q6AI03|Q96BR2	Frame_Shift_Del	DEL	ENST00000399004.2	hg19	CCDS43349.1																																																																																				0.343	GIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370478.3	NM_017676		-	102444335	AGTGTAGTTG	-	102444326	7	5	689	1	0	1	0	1	0	0	0	0	6388	188	7	0	1510	0	GIN1	5	102444326	Frame_Shift_Del	DEL	AGTGTAGTTG	TCGA-J7-6720-01A-11D-2136-08		102444326	78470934	16	38110											
HINT1	3094	hgsc.bcm.edu	37	5	130500845	130500845	+	Silent	SNP	G	G	T			TCGA-J7-6720-01A-11D-2136-08	TCGA-J7-6720-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f51e571-67b3-4e0a-a5b5-bdc9a788d1d1	ee153c70-16dc-47aa-b326-e5341dc09b2f	g.chr5:130500845G>T	ENST00000304043.5	-	1	333	c.54C>A	c.(52-54)atC>atA	p.I18I	HINT1_ENST00000506908.1_Silent_p.I18I|HINT1_ENST00000508488.1_Silent_p.I18I|HINT1_ENST00000513012.1_Silent_p.I18I|HINT1_ENST00000506207.1_Intron	NM_005340.6	NP_005331.1	P49773	HINT1_HUMAN	histidine triad nucleotide binding protein 1	18	HIT. {ECO:0000255|PROSITE- ProRule:PRU00464}.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|purine ribonucleotide catabolic process (GO:0009154)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|nucleotide binding (GO:0000166)|protein kinase C binding (GO:0005080)			endometrium(1)|large_intestine(1)|lung(3)	5		all_cancers(142;0.0452)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Adenosine monophosphate(DB00131)	TCTTCCCAAAGATCGTGTCGC	0.587																																																0													83	74	77					5																	130500845		2203	4300	6503	SO:0001819	synonymous_variant	3094			BC007090	CCDS4147.1	5q31.2	2010-03-30	2001-11-28	2002-03-08	ENSG00000169567	ENSG00000169567			4912	protein-coding gene	gene with protein product		601314	"histidine triad nucleotide-binding protein"	PRKCNH1, HINT		8812426	Standard	NM_005340		Approved	PKCI-1	uc003kve.4	P49773	OTTHUMG00000128995	ENST00000304043.5:c.54C>A	chr5.hg19:g.130500845G>T			Q9H5W8	Silent	SNP	ENST00000304043.5	hg19	CCDS4147.1																																																																																				0.587	HINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250984.1	NM_005340		T	130500845	G	T	130500845	2	4	689	1	0	0	0	0	0	0	0	1	7113	932	33	4		4	HINT1	5	130500845	Silent	SNP	G	TCGA-J7-6720-01A-11D-2136-08	28056519	130500845	50414415	17	38111											
TBC1D9B	23061	hgsc.bcm.edu	37	5	179326225	179326225	+	Silent	SNP	C	C	T			TCGA-J7-6720-01A-11D-2136-08	TCGA-J7-6720-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f51e571-67b3-4e0a-a5b5-bdc9a788d1d1	ee153c70-16dc-47aa-b326-e5341dc09b2f	g.chr5:179326225C>T	ENST00000356834.3	-	3	349	c.312G>A	c.(310-312)gaG>gaA	p.E104E	TBC1D9B_ENST00000355235.3_Silent_p.E104E	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	104						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)			TGATATCTTCCTCACTGTCGA	0.478																																																0													186	155	166					5																	179326225		2203	4300	6503	SO:0001819	synonymous_variant	23061			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.312G>A	chr5.hg19:g.179326225C>T			D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Silent	SNP	ENST00000356834.3	hg19	CCDS43408.1																																																																																				0.478	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253501.3	NM_015043		T	179326225	C	T	179326225	2	4	689	1	0	0	0	0	0	0	0	1	15633	680	24	2		2	TBC1D9B	5	179326225	Silent	SNP	C	TCGA-J7-6720-01A-11D-2136-08	48825380	179326225	1589035	18	38112											
CDKAL1	54901	hgsc.bcm.edu	37	6	20846322	20846322	+	Missense_Mutation	SNP	A	A	G			TCGA-J7-6720-01A-11D-2136-08	TCGA-J7-6720-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f51e571-67b3-4e0a-a5b5-bdc9a788d1d1	ee153c70-16dc-47aa-b326-e5341dc09b2f	g.chr6:20846322A>G	ENST00000378610.1	+	7	665	c.655A>G	c.(655-657)Acc>Gcc	p.T219A	CDKAL1_ENST00000378624.4_Missense_Mutation_p.T149A|CDKAL1_ENST00000274695.4_Missense_Mutation_p.T219A			Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	219					maintenance of translational fidelity (GO:1990145)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|N6-threonylcarbomyladenosine methylthiotransferase activity (GO:0035598)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			CAATGCTTGTACCTACTGCAA	0.343																																																0													75	75	75					6																	20846322		2203	4300	6503	SO:0001583	missense	54901			AK000349	CCDS4546.1	6p22.2	2008-02-05			ENSG00000145996	ENSG00000145996			21050	protein-coding gene	gene with protein product		611259					Standard	NM_017774		Approved	FLJ20342	uc003ndd.2	Q5VV42	OTTHUMG00000014340	ENST00000378610.1:c.655A>G	chr6.hg19:g.20846322A>G	ENSP00000367873:p.Thr219Ala		A8K6S0|Q6P385|Q6ZR27|Q9NXB3	Missense_Mutation	SNP	ENST00000378610.1	hg19	CCDS4546.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.612488	0.87258	.	.	ENSG00000145996	ENST00000274695;ENST00000378624;ENST00000378610	T;T;T	0.24151	1.87;1.87;1.87	5.81	5.81	0.92471	Elongator protein 3/MiaB/NifB (1);Radical SAM, alpha/beta horseshoe (1);Methylthiotransferase, conserved site (1);Radical SAM (1);	0.000000	0.85682	D	0.000000	T	0.42607	0.1210	M	0.66378	2.025	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.97110	1.0;0.951	T	0.42378	-0.9455	10	0.87932	D	0	.	16.1616	0.81721	1.0:0.0:0.0:0.0	.	149;219	Q5VV42-2;Q5VV42	.;CDKAL_HUMAN	A	219;149;219	ENSP00000274695:T219A;ENSP00000367889:T149A;ENSP00000367873:T219A	ENSP00000274695:T219A	T	+	1	0	CDKAL1	20954301	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.971000	0.76105	2.218000	0.71995	0.377000	0.23210	ACC		0.343	CDKAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039986.1	NM_017774		G	20846322	A	G	20846322	3	3	689	1	0	0	0	0	1	0	0	0	3154	391	14	3	681	3	CDKAL1	6	20846322	Missense_Mutation	SNP	A	TCGA-J7-6720-01A-11D-2136-08		20846322	150268745	19	38113											
TJAP1	93643	hgsc.bcm.edu	37	6	43472653	43472653	+	Missense_Mutation	SNP	A	A	G			TCGA-J7-6720-01A-11D-2136-08	TCGA-J7-6720-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f51e571-67b3-4e0a-a5b5-bdc9a788d1d1	ee153c70-16dc-47aa-b326-e5341dc09b2f	g.chr6:43472653A>G	ENST00000372445.5	+	11	1110	c.734A>G	c.(733-735)aAt>aGt	p.N245S	TJAP1_ENST00000438588.2_Missense_Mutation_p.N245S|TJAP1_ENST00000372444.2_Missense_Mutation_p.N235S|TJAP1_ENST00000483640.1_3'UTR|TJAP1_ENST00000436109.2_Missense_Mutation_p.N235S|TJAP1_ENST00000372452.1_Missense_Mutation_p.N235S|TJAP1_ENST00000372449.1_Missense_Mutation_p.N245S|TJAP1_ENST00000259751.1_Missense_Mutation_p.N235S	NM_001146016.1	NP_001139488.1	Q5JTD0	TJAP1_HUMAN	tight junction associated protein 1 (peripheral)	245					Golgi organization (GO:0007030)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)|trans-Golgi network (GO:0005802)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CTACTGCTCAATTCAGCCCAG	0.637																																																0													88	89	88					6																	43472653		2203	4300	6503	SO:0001583	missense	93643			AK024269	CCDS4898.1, CCDS55004.1	6p21.1	2008-02-05	2005-07-05	2005-07-05	ENSG00000137221	ENSG00000137221			17949	protein-coding gene	gene with protein product		612658	"tight junction protein 4 (peripheral)"	TJP4		11602598	Standard	NM_001146016		Approved	PILT	uc011dvh.1	Q5JTD0	OTTHUMG00000014736	ENST00000372445.5:c.734A>G	chr6.hg19:g.43472653A>G	ENSP00000361522:p.Asn245Ser		Q05BH9|Q5JTD1|Q5JWW1|Q68DB2|Q6P2P3|Q9H7V7	Missense_Mutation	SNP	ENST00000372445.5	hg19	CCDS55004.1	.	.	.	.	.	.	.	.	.	.	A	18.71	3.681816	0.68042	.	.	ENSG00000137221	ENST00000372444;ENST00000372445;ENST00000436109;ENST00000259751;ENST00000372454;ENST00000372452;ENST00000372449;ENST00000438588	T;T;T;T;T;T;T	0.20881	2.04;2.04;2.04;2.04;2.04;2.04;2.04	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.21022	0.0506	L	0.31664	0.95	0.58432	D	0.999999	D;D	0.89917	0.998;1.0	D;D	0.83275	0.987;0.996	T	0.05037	-1.0910	10	0.20046	T	0.44	-53.1615	14.9298	0.70906	1.0:0.0:0.0:0.0	.	245;235	Q5JTD0;Q5JTD0-2	TJAP1_HUMAN;.	S	235;245;235;235;235;235;245;245	ENSP00000361521:N235S;ENSP00000361522:N245S;ENSP00000407080:N235S;ENSP00000259751:N235S;ENSP00000361530:N235S;ENSP00000361527:N245S;ENSP00000408769:N245S	ENSP00000259751:N235S	N	+	2	0	TJAP1	43580631	1.000000	0.71417	0.995000	0.50966	0.806000	0.45545	8.900000	0.92551	1.912000	0.55364	0.459000	0.35465	AAT		0.637	TJAP1-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040629.1	NM_080604		G	43472653	A	G	43472653	3	3	689	1	0	0	0	0	1	0	0	0	15933	101	4	3	764	3	TJAP1	6	43472653	Missense_Mutation	SNP	A	TCGA-J7-6720-01A-11D-2136-08	22626331	43472653	127642414	20	38114											
ZDHHC14	79683	hgsc.bcm.edu	37	6	158093775	158093785	+	Frame_Shift_Del	DEL	TTCAGAGCACC	TTCAGAGCACC	-			TCGA-J7-6720-01A-11D-2136-08	TCGA-J7-6720-10A-01D-2136-08	TTCAGAGCACC	TTCAGAGCACC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f51e571-67b3-4e0a-a5b5-bdc9a788d1d1	ee153c70-16dc-47aa-b326-e5341dc09b2f	g.chr6:158093775_158093785delTTCAGAGCACC	ENST00000359775.5	+	9	1977_1987	c.1088_1098delTTCAGAGCACC	c.(1087-1098)attcagagcaccfs	p.IQST363fs	ZDHHC14_ENST00000341375.8_3'UTR|ZDHHC14_ENST00000414563.2_Intron			Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14	363					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)		GACCAGTGCATTCAGAGCACCAAATTCGTTT	0.664																																																0																																										SO:0001589	frameshift_variant	79683			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.1088_1098delTTCAGAGCACC	chr6.hg19:g.158093775_158093785delTTCAGAGCACC	ENSP00000352821:p.Ile363fs		A6NDB7|Q5JS07|Q5JS08|Q6PHS4|Q8IZN2|Q9H7F1	Frame_Shift_Del	DEL	ENST00000359775.5	hg19	CCDS5252.1																																																																																				0.664	ZDHHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042841.2	NM_153746		-	158093785	TTCAGAGCACC	-	158093775	7	5	689	1	0	1	0	1	0	0	0	0	17609	1493	52	0	1122	0	ZDHHC14	6	158093775	Frame_Shift_Del	DEL	TTCAGAGCACC	TCGA-J7-6720-01A-11D-2136-08	114621122	158093775	13021292	21	38115											
THBS2	7058	hgsc.bcm.edu	37	6	169642014	169642014	+	Missense_Mutation	SNP	C	C	G			TCGA-J7-6720-01A-11D-2136-08	TCGA-J7-6720-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f51e571-67b3-4e0a-a5b5-bdc9a788d1d1	ee153c70-16dc-47aa-b326-e5341dc09b2f	g.chr6:169642014C>G	ENST00000366787.3	-	6	983	c.734G>C	c.(733-735)cGc>cCc	p.R245P	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	245					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)		CGGACCCAGGCGCAGCGTCTC	0.647																																					Esophageal Squamous(91;219 1934 18562 44706)											0													50	45	47					6																	169642014		2202	4300	6502	SO:0001583	missense	7058				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.734G>C	chr6.hg19:g.169642014C>G	ENSP00000355751:p.Arg245Pro		A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	hg19	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	C	6.539	0.467797	0.12402	.	.	ENSG00000186340	ENST00000366787	T	0.80994	-1.44	4.75	0.174	0.15040	.	0.371764	0.19184	U	0.120604	T	0.47525	0.1450	N	0.22421	0.69	0.22412	N	0.999129	B	0.26845	0.161	B	0.25506	0.061	T	0.44922	-0.9296	10	0.46703	T	0.11	-42.5921	9.6944	0.40147	0.0:0.2486:0.0:0.7513	.	245	P35442	TSP2_HUMAN	P	245	ENSP00000355751:R245P	ENSP00000355751:R245P	R	-	2	0	THBS2	169383939	0.998000	0.40836	0.177000	0.23020	0.004000	0.04260	0.342000	0.19926	0.182000	0.20032	-0.658000	0.03865	CGC		0.647	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		G	169642014	C	G	169642014	3	3	689	1	0	0	0	0	1	0	0	0	15859	768	27	4	2856	4	THBS2	6	169642014	Missense_Mutation	SNP	C	TCGA-J7-6720-01A-11D-2136-08	11548239	169642014	1473053	22	38116											
ZNF679	168417	hgsc.bcm.edu	37	7	63726979	63726979	+	Missense_Mutation	SNP	C	C	G			TCGA-J7-6720-01A-11D-2136-08	TCGA-J7-6720-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f51e571-67b3-4e0a-a5b5-bdc9a788d1d1	ee153c70-16dc-47aa-b326-e5341dc09b2f	g.chr7:63726979C>G	ENST00000421025.1	+	5	1237	c.968C>G	c.(967-969)cCc>cGc	p.P323R	ZNF679_ENST00000255746.4_Missense_Mutation_p.P323R	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	323					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						GGAGAGAAACCCTACACATGT	0.398																																																0													26	27	27					7																	63726979		692	1591	2283	SO:0001583	missense	168417			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.968C>G	chr7.hg19:g.63726979C>G	ENSP00000416809:p.Pro323Arg			Missense_Mutation	SNP	ENST00000421025.1	hg19	CCDS47592.1	.	.	.	.	.	.	.	.	.	.	C	11.23	1.576050	0.28092	.	.	ENSG00000197123	ENST00000421025;ENST00000255746	T;T	0.17213	2.29;2.29	0.81	0.81	0.18732	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28962	0.0719	L	0.46819	1.47	0.37644	D	0.922144	D	0.89917	1.0	D	0.97110	1.0	T	0.11641	-1.0579	9	0.72032	D	0.01	.	6.9761	0.24677	0.0:1.0:0.0:0.0	.	323	Q8IYX0	ZN679_HUMAN	R	323	ENSP00000416809:P323R;ENSP00000255746:P323R	ENSP00000255746:P323R	P	+	2	0	ZNF679	63364414	0.775000	0.28604	0.437000	0.26809	0.440000	0.31957	3.755000	0.55197	0.181000	0.19994	0.184000	0.17185	CCC		0.398	ZNF679-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344317.2	NM_153363		G	63726979	C	G	63726979	3	3	689	1	0	0	0	0	1	0	0	0	18091	623	22	4	982	4	ZNF679	7	63726979	Missense_Mutation	SNP	C	TCGA-J7-6720-01A-11D-2136-08		63726979	95411684	23	38117											
RELN	5649	hgsc.bcm.edu	37	7	103292216	103292216	+	Missense_Mutation	SNP	G	G	C			TCGA-J7-6720-01A-11D-2136-08	TCGA-J7-6720-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f51e571-67b3-4e0a-a5b5-bdc9a788d1d1	ee153c70-16dc-47aa-b326-e5341dc09b2f	g.chr7:103292216G>C	ENST00000428762.1	-	15	1943	c.1784C>G	c.(1783-1785)aCc>aGc	p.T595S	RELN_ENST00000343529.5_Missense_Mutation_p.T595S|RELN_ENST00000424685.2_Missense_Mutation_p.T595S	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	595					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)		CCCATGGTTGGTAGAAAATTC	0.463																																					NSCLC(146;835 1944 15585 22231 52158)											0													64	52	56					7																	103292216		2203	4300	6503	SO:0001583	missense	5649				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.1784C>G	chr7.hg19:g.103292216G>C	ENSP00000392423:p.Thr595Ser		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	hg19	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.770518	0.90108	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.25085	1.82;1.82;1.82	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.47801	0.1465	L	0.46157	1.445	0.58432	D	0.999998	D;D	0.76494	0.999;0.982	D;D	0.77557	0.99;0.952	T	0.34279	-0.9835	10	0.66056	D	0.02	.	20.0693	0.97712	0.0:0.0:1.0:0.0	.	595;595	P78509-2;P78509	.;RELN_HUMAN	S	595	ENSP00000392423:T595S;ENSP00000345694:T595S;ENSP00000388446:T595S	ENSP00000345694:T595S	T	-	2	0	RELN	103079452	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	9.476000	0.97823	2.758000	0.94735	0.563000	0.77884	ACC		0.463	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		C	103292216	G	C	103292216	3	2	689	1	0	0	0	0	1	0	0	0	13226	1261	44	4	8802	4	RELN	7	103292216	Missense_Mutation	SNP	G	TCGA-J7-6720-01A-11D-2136-08	39565237	103292216	55846447	24	38118											
JPH1	56704	hgsc.bcm.edu	37	8	75227665	75227665	+	Silent	SNP	G	G	A			TCGA-J7-6720-01A-11D-2136-08	TCGA-J7-6720-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f51e571-67b3-4e0a-a5b5-bdc9a788d1d1	ee153c70-16dc-47aa-b326-e5341dc09b2f	g.chr8:75227665G>A	ENST00000342232.4	-	2	610	c.570C>T	c.(568-570)cgC>cgT	p.R190R		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	190					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)			CGAAACCGCCGCGGGTGCCGG	0.682																																																0													14	18	16					8																	75227665		2161	4223	6384	SO:0001819	synonymous_variant	56704			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.570C>T	chr8.hg19:g.75227665G>A			B2RTZ0	Silent	SNP	ENST00000342232.4	hg19	CCDS6217.1																																																																																				0.682	JPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379102.1			A	75227665	G	A	75227665	2	1	689	1	0	0	0	0	0	0	0	1	7962	1074	38	1		1	JPH1	8	75227665	Silent	SNP	G	TCGA-J7-6720-01A-11D-2136-08		75227665	71136357	25	38119											
FAM135B	51059	hgsc.bcm.edu	37	8	139180285	139180285	+	Missense_Mutation	SNP	T	T	C			TCGA-J7-6720-01A-11D-2136-08	TCGA-J7-6720-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f51e571-67b3-4e0a-a5b5-bdc9a788d1d1	ee153c70-16dc-47aa-b326-e5341dc09b2f	g.chr8:139180285T>C	ENST00000395297.1	-	12	1281	c.1111A>G	c.(1111-1113)Acg>Gcg	p.T371A		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	371										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGGCTGTGCGTCTGTATCCTG	0.587										HNSCC(54;0.14)																																						0													84	91	89					8																	139180285		2108	4234	6342	SO:0001583	missense	51059			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.1111A>G	chr8.hg19:g.139180285T>C	ENSP00000378710:p.Thr371Ala		B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	hg19	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	T	12.75	2.032813	0.35893	.	.	ENSG00000147724	ENST00000395297	D	0.88201	-2.35	5.66	3.16	0.36331	.	0.611892	0.17190	N	0.183555	D	0.85852	0.5793	M	0.63428	1.95	0.27501	N	0.951993	B	0.19817	0.039	B	0.16722	0.016	T	0.75422	-0.3323	10	0.38643	T	0.18	-6.9288	10.1146	0.42583	0.2674:0.0:0.0:0.7326	.	371	Q49AJ0	F135B_HUMAN	A	371	ENSP00000378710:T371A	ENSP00000276737:T371A	T	-	1	0	FAM135B	139249467	0.993000	0.37304	0.963000	0.40424	0.275000	0.26752	2.562000	0.45914	0.433000	0.26313	0.533000	0.62120	ACG		0.587	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		C	139180285	T	C	139180285	3	2	689	1	0	0	0	0	1	0	0	0	5451	1667	58	3	3145	3	FAM135B	8	139180285	Missense_Mutation	SNP	T	TCGA-J7-6720-01A-11D-2136-08	63952620	139180285	7183737	26	38120											
CYP11B1	1584	hgsc.bcm.edu	37	8	143956729	143956729	+	Splice_Site	SNP	C	C	G			TCGA-J7-6720-01A-11D-2136-08	TCGA-J7-6720-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f51e571-67b3-4e0a-a5b5-bdc9a788d1d1	ee153c70-16dc-47aa-b326-e5341dc09b2f	g.chr8:143956729C>G	ENST00000292427.4	-	7	1154		c.e7-1		CYP11B1_ENST00000517471.1_Splice_Site|CYP11B1_ENST00000377675.3_Splice_Site	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1						aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	AGGGTAGAGCCTGGAGGTGGG	0.602									Familial Hyperaldosteronism type I																																							0													39	43	41					8																	143956729		2203	4300	6503	SO:0001630	splice_region_variant	1584	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"Cytochrome P450s"	2591	protein-coding gene	gene with protein product	"steroid 11-beta-monooxygenase"	610613	"cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.1122-1G>C	chr8.hg19:g.143956729C>G			Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Splice_Site	SNP	ENST00000292427.4	hg19	CCDS6392.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	13.78|13.78	2.338412|2.338412	0.41398|0.41398	.|.	.|.	ENSG00000160882|ENSG00000160882	ENST00000292427;ENST00000517471;ENST00000377675|ENST00000519285	.|D	.|0.97480	.|-4.4	3.12|3.12	3.12|3.12	0.35913|0.35913	.|.	.|.	.|.	.|.	.|.	.|D	.|0.96836	.|0.8967	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|D	.|0.95728	.|0.8772	.|5	.|.	.|.	.|.	.|.	12.4777|12.4777	0.55823|0.55823	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	.|T	-1|52	.|ENSP00000430144:R52T	.|.	.|R	-|-	.|2	.|0	CYP11B1|CYP11B1	143953731|143953731	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.194000|0.194000	0.23727|0.23727	4.120000|4.120000	0.57897|0.57897	2.055000|2.055000	0.61198|0.61198	0.555000|0.555000	0.69702|0.69702	.|AGG		0.602	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2		Intron	G	143956729	C	G	143956729	5	3	689	1	0	0	0	0	0	0	1	0	4147	695	24	4	402	4	CYP11B1	8	143956729	Splice_Site	SNP	C	TCGA-J7-6720-01A-11D-2136-08	4776444	143956729	2407293	27	38121											
SCRIB	23513	hgsc.bcm.edu	37	8	144895667	144895667	+	Missense_Mutation	SNP	C	C	A			TCGA-J7-6720-01A-11D-2136-08	TCGA-J7-6720-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f51e571-67b3-4e0a-a5b5-bdc9a788d1d1	ee153c70-16dc-47aa-b326-e5341dc09b2f	g.chr8:144895667C>A	ENST00000320476.3	-	5	482	c.476G>T	c.(475-477)cGg>cTg	p.R159L	SCRIB_ENST00000356994.2_Missense_Mutation_p.R159L|SCRIB_ENST00000377533.3_Missense_Mutation_p.R78L|MIR937_ENST00000401271.1_RNA	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	159	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)			CAGGTTCTCCCGGAGCTCCAG	0.647																																					Pancreas(51;966 1133 10533 14576 29674)											0													41	39	40					8																	144895667		2203	4300	6503	SO:0001583	missense	23513			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.476G>T	chr8.hg19:g.144895667C>A	ENSP00000322938:p.Arg159Leu		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	ENST00000320476.3	hg19	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	C	35	5.538622	0.96474	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533	T;T;T	0.11277	2.79;2.79;2.79	4.55	4.55	0.56014	.	.	.	.	.	T	0.30417	0.0764	L	0.60012	1.86	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.03503	-1.1030	9	0.87932	D	0	.	16.6416	0.85128	0.0:1.0:0.0:0.0	.	159;159	Q14160;Q14160-3	SCRIB_HUMAN;.	L	159;159;78	ENSP00000349486:R159L;ENSP00000322938:R159L;ENSP00000366756:R78L	ENSP00000322938:R159L	R	-	2	0	SCRIB	144967655	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.446000	0.60014	2.222000	0.72286	0.563000	0.77884	CGG		0.647	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		A	144895667	C	A	144895667	3	1	689	1	0	0	0	0	1	0	0	0	13943	652	23	4	4623	4	SCRIB	8	144895667	Missense_Mutation	SNP	C	TCGA-J7-6720-01A-11D-2136-08	938938	144895667	1468355	28	38122											
ING4	51147	hgsc.bcm.edu	37	12	6761549	6761549	+	Frame_Shift_Del	DEL	C	C	-			TCGA-J7-6720-01A-11D-2136-08	TCGA-J7-6720-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f51e571-67b3-4e0a-a5b5-bdc9a788d1d1	ee153c70-16dc-47aa-b326-e5341dc09b2f	g.chr12:6761549delC	ENST00000396807.4	-	6	574	c.536delG	c.(535-537)ggcfs	p.G179fs	ING4_ENST00000423703.2_Intron|ING4_ENST00000446105.2_Frame_Shift_Del_p.G175fs|ING4_ENST00000486287.1_Intron|ING4_ENST00000444704.2_Frame_Shift_Del_p.G155fs|ING4_ENST00000412586.2_Frame_Shift_Del_p.G176fs|ING4_ENST00000341550.4_Frame_Shift_Del_p.G178fs	NM_001127582.1|NM_001127585.1|NM_001127586.1|NM_016162.3	NP_001121054.1|NP_001121057.1|NP_001121058.1|NP_057246.2	Q9UNL4	ING4_HUMAN	inhibitor of growth family, member 4	179					apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|chromatin organization (GO:0006325)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|histone H4-K12 acetylation (GO:0043983)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|protein acetylation (GO:0006473)	histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			central_nervous_system(3)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	10						GTGGACACTGCCAAAGGTCAC	0.512																																																0													186	161	169					12																	6761549		2203	4300	6503	SO:0001589	frameshift_variant	51147			AF063594	CCDS8555.1, CCDS44812.1, CCDS44813.1, CCDS44814.1, CCDS44815.1, CCDS44816.1	12p13.32	2013-01-28			ENSG00000111653	ENSG00000111653		"Zinc fingers, PHD-type"	19423	protein-coding gene	gene with protein product		608524				12750254	Standard	NM_001127582		Approved	p29ING4, my036	uc001qpw.4	Q9UNL4	OTTHUMG00000141274	ENST00000396807.4:c.536delG	chr12.hg19:g.6761549delC	ENSP00000380024:p.Gly179fs		A4KYM4|A4KYM6|D3DUR8|Q0EF62|Q0EF63|Q4VBQ6|Q96E15|Q9H3J0	Frame_Shift_Del	DEL	ENST00000396807.4	hg19	CCDS44813.1																																																																																				0.512	ING4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280467.2	NM_198287		-	6761549	C	-	6761549	7	5	689	1	0	1	0	1	0	0	0	0	7740	739	26	0	225	0	ING4	12	6761549	Frame_Shift_Del	DEL	C	TCGA-J7-6720-01A-11D-2136-08		6761549	127090346	29	38123											
FGD4	121512	hgsc.bcm.edu	37	12	32777967	32777968	+	In_Frame_Ins	INS	-	-	TTTTTT			TCGA-J7-6720-01A-11D-2136-08	TCGA-J7-6720-10A-01D-2136-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f51e571-67b3-4e0a-a5b5-bdc9a788d1d1	ee153c70-16dc-47aa-b326-e5341dc09b2f	g.chr12:32777967_32777968insTTTTTT	ENST00000427716.2	+	13	2024_2025	c.1600_1601insTTTTTT	c.(1600-1602)att>aTTTTTTtt	p.534_535insFF	FGD4_ENST00000534526.2_In_Frame_Ins_p.671_672insFF|FGD4_ENST00000546442.1_In_Frame_Ins_p.441_442insFF|FGD4_ENST00000266482.3_In_Frame_Ins_p.286_287insFF|FGD4_ENST00000525053.1_In_Frame_Ins_p.646_647insFF|FGD4_ENST00000531134.1_In_Frame_Ins_p.619_620insFF	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	534					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|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)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|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)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					CAGAAATGCAATTGCAAAGGAT	0.347																																																0																																										SO:0001652	inframe_insertion	121512			AK057294	CCDS8727.1	12p11.1	2014-09-17	2004-08-24		ENSG00000139132	ENSG00000139132		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	19125	protein-coding gene	gene with protein product		611104	"FGD1 family, member 4"			11527409	Standard	NM_139241		Approved	FRABP, frabin, ZFYVE6, CMT4H	uc001rkz.3	Q96M96	OTTHUMG00000137374	Exception_encountered	chr12.hg19:g.32777967_32777968insTTTTTT	ENSP00000394487:p.Ile534_Ala535insPhePhe		Q6ULS2|Q8TCP6	In_Frame_Ins	INS	ENST00000427716.2	hg19	CCDS8727.1																																																																																				0.347	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268017.1	NM_139241		TTTTTT	32777968	-	TTTTTT	32777967	7	5	689	1	0	1	1	0	0	0	0	0	5837	101	4	0	1642	0	FGD4	12	32777967	In_Frame_Ins	INS	-	TCGA-J7-6720-01A-11D-2136-08	26016418	32777967	101073928	30	38124											
DGKH	160851	hgsc.bcm.edu	37	13	42742631	42742632	+	Missense_Mutation	DNP	GG	GG	AT			TCGA-J7-6720-01A-11D-2136-08	TCGA-J7-6720-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f51e571-67b3-4e0a-a5b5-bdc9a788d1d1	ee153c70-16dc-47aa-b326-e5341dc09b2f	g.chr13:42742631_42742632GG>AT	ENST00000337343.4	+	10	1195_1196	c.1174_1175GG>AT	c.(1174-1176)GGa>ATa	p.G392I	DGKH_ENST00000379274.2_Missense_Mutation_p.G256I|DGKH_ENST00000538674.1_Missense_Mutation_p.G147I|DGKH_ENST00000261491.5_Missense_Mutation_p.G392I|DGKH_ENST00000536612.1_Missense_Mutation_p.G256I|DGKH_ENST00000540693.1_Missense_Mutation_p.G392I|DGKH_ENST00000498255.2_3'UTR	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	392	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				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)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		TGGAGGCGATGGAAGTGTAGGT	0.322																																																0																																										SO:0001583	missense	160851			AB078967	CCDS9381.1, CCDS9382.1, CCDS55898.1	13q13.3	2013-01-10			ENSG00000102780	ENSG00000102780		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	2854	protein-coding gene	gene with protein product		604071				8702685	Standard	XM_005266271		Approved	DGKeta	uc001uyl.2	Q86XP1	OTTHUMG00000016804	Exception_encountered	chr13.hg19:g.42742631_42742632delinsAT	ENSP00000337572:p.Gly392Ile		A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9	Missense_Mutation	SNP	ENST00000337343.4	hg19	CCDS9381.1																																																																																				0.322	DGKH-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044699.2	NM_178009		AT	42742632	GG	AT	42742631	3	1	689	1	0	0	0	0	1	0	0	0	4472	1349	47	2	1212	2	DGKH	13	42742631	Missense_Mutation	DNP	GG	TCGA-J7-6720-01A-11D-2136-08		42742631	72427247	31	38125											
HAUS4	54930	hgsc.bcm.edu	37	14	23415759	23415759	+	Missense_Mutation	SNP	T	T	A			TCGA-J7-6720-01A-11D-2136-08	TCGA-J7-6720-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f51e571-67b3-4e0a-a5b5-bdc9a788d1d1	ee153c70-16dc-47aa-b326-e5341dc09b2f	g.chr14:23415759T>A	ENST00000206474.7	-	10	1319	c.1067A>T	c.(1066-1068)cAg>cTg	p.Q356L	HAUS4_ENST00000541587.1_Missense_Mutation_p.Q356L|HAUS4_ENST00000554446.1_5'UTR|HAUS4_ENST00000555367.1_Missense_Mutation_p.Q311L|HAUS4_ENST00000342454.8_Missense_Mutation_p.Q311L|RP11-298I3.1_ENST00000548322.1_RNA|RP11-298I3.1_ENST00000548819.1_RNA|HAUS4_ENST00000397409.4_Missense_Mutation_p.Q230L|RP11-298I3.5_ENST00000555074.1_Silent_p.P185P|HAUS4_ENST00000490506.1_Missense_Mutation_p.Q232L|HAUS4_ENST00000347758.2_Missense_Mutation_p.Q230L|HAUS4_ENST00000555986.1_Missense_Mutation_p.Q311L			Q9H6D7	HAUS4_HUMAN	HAUS augmin-like complex, subunit 4	356					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						GCTGAACTCCTGGAGGGCCCA	0.562																																																0													71	64	66					14																	23415759		2203	4300	6503	SO:0001583	missense	54930			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.1067A>T	chr14.hg19:g.23415759T>A	ENSP00000206474:p.Gln356Leu		B7WP17|D3DS34|Q86T15|Q86T16|Q86U43|Q9NX59	Missense_Mutation	SNP	ENST00000206474.7	hg19	CCDS9580.1	.	.	.	.	.	.	.	.	.	.	T	13.26	2.185415	0.38609	.	.	ENSG00000092036;ENSG00000092036;ENSG00000092036;ENSG00000092036;ENSG00000092036;ENSG00000092036;ENSG00000092036;ENSG00000092036;ENSG00000259132	ENST00000206474;ENST00000490506;ENST00000541587;ENST00000342454;ENST00000347758;ENST00000397409;ENST00000555367;ENST00000555986;ENST00000555074	.	.	.	5.8	3.46	0.39613	.	0.358284	0.32328	N	0.006245	T	0.33904	0.0879	L	0.50333	1.59	0.30627	N	0.757909	B;P;B	0.42518	0.0;0.782;0.001	B;B;B	0.40256	0.003;0.324;0.004	T	0.40136	-0.9579	9	0.52906	T	0.07	-10.115	5.9375	0.19173	0.1466:0.0786:0.0:0.7748	.	311;230;356	Q9H6D7-4;Q9H6D7-2;Q9H6D7	.;.;HAUS4_HUMAN	L	356;232;356;311;230;230;311;311;133	.	ENSP00000206474:Q356L	Q	-	2	0	RP11-298I3.5;HAUS4	22485599	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	0.712000	0.25779	1.014000	0.39417	-0.409000	0.06214	CAG		0.562	HAUS4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071680.3			A	23415759	T	A	23415759	3	1	689	1	0	0	0	0	1	0	0	0	6970	1580	55	5	28	5	HAUS4	14	23415759	Missense_Mutation	SNP	T	TCGA-J7-6720-01A-11D-2136-08		23415759	83933781	32	38126											
ACIN1	22985	hgsc.bcm.edu	37	14	23549776	23549776	+	Silent	SNP	T	T	C			TCGA-J7-6720-01A-11D-2136-08	TCGA-J7-6720-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f51e571-67b3-4e0a-a5b5-bdc9a788d1d1	ee153c70-16dc-47aa-b326-e5341dc09b2f	g.chr14:23549776T>C	ENST00000262710.1	-	6	1269	c.942A>G	c.(940-942)gtA>gtG	p.V314V	ACIN1_ENST00000555352.1_5'Flank|ACIN1_ENST00000555053.1_Silent_p.V314V|ACIN1_ENST00000605057.1_Silent_p.V256V|ACIN1_ENST00000457657.1_Silent_p.V274V	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	314	Glu-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		CCTCTGGTTTTACTCTAGGTA	0.453																																																0													246	213	224					14																	23549776		2203	4300	6503	SO:0001819	synonymous_variant	22985			AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 152"	604562	"apoptotic chromatin condensation inducer in the nucleus"	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.942A>G	chr14.hg19:g.23549776T>C			B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Silent	SNP	ENST00000262710.1	hg19	CCDS9587.1																																																																																				0.453	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		C	23549776	T	C	23549776	2	2	689	1	0	0	0	0	0	0	0	1	142	1741	61	3		3	ACIN1	14	23549776	Silent	SNP	T	TCGA-J7-6720-01A-11D-2136-08	134017	23549776	83799764	33	38127											
ADCY4	196883	hgsc.bcm.edu	37	14	24793367	24793367	+	Silent	SNP	C	C	A			TCGA-J7-6720-01A-11D-2136-08	TCGA-J7-6720-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f51e571-67b3-4e0a-a5b5-bdc9a788d1d1	ee153c70-16dc-47aa-b326-e5341dc09b2f	g.chr14:24793367C>A	ENST00000310677.4	-	17	2060	c.1947G>T	c.(1945-1947)ctG>ctT	p.L649L	ADCY4_ENST00000418030.2_Silent_p.L649L|ADCY4_ENST00000396747.3_Silent_p.L342L|ADCY4_ENST00000554068.2_Silent_p.L649L	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	649					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)		ACAGTGCAGGCAGCCAGTGCA	0.612																																																0													64	63	63					14																	24793367		2203	4300	6503	SO:0001819	synonymous_variant	196883			AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"Adenylate cyclases"	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.1947G>T	chr14.hg19:g.24793367C>A			B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Silent	SNP	ENST00000310677.4	hg19	CCDS9627.1																																																																																				0.612	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			A	24793367	C	A	24793367	2	1	689	1	0	0	0	0	0	0	0	1	296	697	25	4		4	ADCY4	14	24793367	Silent	SNP	C	TCGA-J7-6720-01A-11D-2136-08	1243591	24793367	82556173	34	38128											
JKAMP	51528	hgsc.bcm.edu	37	14	59965574	59965574	+	Silent	SNP	T	T	C			TCGA-J7-6720-01A-11D-2136-08	TCGA-J7-6720-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f51e571-67b3-4e0a-a5b5-bdc9a788d1d1	ee153c70-16dc-47aa-b326-e5341dc09b2f	g.chr14:59965574T>C	ENST00000261247.9	+	5	735	c.588T>C	c.(586-588)ctT>ctC	p.L196L	JKAMP_ENST00000425728.2_Silent_p.L190L|JKAMP_ENST00000356057.5_Silent_p.L204L|RP11-701B16.2_ENST00000554253.1_RNA|JKAMP_ENST00000554271.1_Silent_p.L210L	NM_001098625.1|NM_001284203.1|NM_016475.3	NP_001092095.1|NP_001271132.1|NP_057559.2	Q9P055	JKAMP_HUMAN	JNK1/MAPK8-associated membrane protein	211					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(1)|kidney(1)|lung(3)	6						ATGCTGCACTTTACTTCTTCC	0.373																																																0													125	113	117					14																	59965574		1831	4097	5928	SO:0001819	synonymous_variant	51528			AF212245	CCDS45116.1, CCDS45117.1, CCDS61462.1, CCDS61463.1	14q22.3	2014-02-14	2009-08-13	2009-08-13	ENSG00000050130	ENSG00000050130			20184	protein-coding gene	gene with protein product	"Jun N-terminal kinase 1-associated membrane protein"	611176	"chromosome 14 open reading frame 100"	C14orf100		16166642, 19269966	Standard	NM_001284202		Approved	HSPC213, JAMP, HSPC327, CDA06	uc001xef.4	Q9P055	OTTHUMG00000171054	ENST00000261247.9:c.588T>C	chr14.hg19:g.59965574T>C			B4DP67|Q6FIB6|Q6IAJ2|Q7Z5D4|Q86SY6|Q9H0Q6|Q9H2W0|Q9HAH5|Q9P0R3	Silent	SNP	ENST00000261247.9	hg19	CCDS45116.1																																																																																				0.373	JKAMP-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411430.1	NM_001098625		C	59965574	T	C	59965574	2	2	689	1	0	0	0	0	0	0	0	1	7951	1828	64	3		3	JKAMP	14	59965574	Silent	SNP	T	TCGA-J7-6720-01A-11D-2136-08	35172207	59965574	47383966	35	38129											
KIAA1199	57214	hgsc.bcm.edu	37	15	81221510	81221511	+	Frame_Shift_Del	DEL	AG	AG	-	rs201251202		TCGA-J7-6720-01A-11D-2136-08	TCGA-J7-6720-10A-01D-2136-08	AG	AG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f51e571-67b3-4e0a-a5b5-bdc9a788d1d1	ee153c70-16dc-47aa-b326-e5341dc09b2f	g.chr15:81221510_81221511delAG	ENST00000394685.3	+	21	3026_3027	c.2607_2608delAG	c.(2605-2610)ataggcfs	p.IG869fs	RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000220244.3_Frame_Shift_Del_p.IG869fs|KIAA1199_ENST00000356249.5_Frame_Shift_Del_p.IG869fs			Q8WUJ3	CEMIP_HUMAN		869					hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605)	clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CCCTCCCTATAGGCCAGTAGGT	0.51																																																0																																										SO:0001589	frameshift_variant	57214																														ENST00000394685.3:c.2607_2608delAG	chr15.hg19:g.81221510_81221511delAG	ENSP00000378177:p.Ile869fs		Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Frame_Shift_Del	DEL	ENST00000394685.3	hg19	CCDS10315.1																																																																																				0.51	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291389.1			-	81221511	AG	-	81221510	7	5	689	1	0	1	0	1	0	0	0	0	8215	410	15	0	2681	0	KIAA1199	15	81221510	Frame_Shift_Del	DEL	AG	TCGA-J7-6720-01A-11D-2136-08		81221510	21309882	36	38130											
SBK1	388228	hgsc.bcm.edu	37	16	28330355	28330355	+	Missense_Mutation	SNP	C	C	T			TCGA-J7-6720-01A-11D-2136-08	TCGA-J7-6720-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f51e571-67b3-4e0a-a5b5-bdc9a788d1d1	ee153c70-16dc-47aa-b326-e5341dc09b2f	g.chr16:28330355C>T	ENST00000341901.4	+	3	1055	c.266C>T	c.(265-267)aCc>aTc	p.T89I		NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN	SH3 domain binding kinase 1	89	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						AAGAGCAAAACCAAGCTGAAG	0.532																																																0													170	156	161					16																	28330355		2197	4300	6497	SO:0001583	missense	388228				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.266C>T	chr16.hg19:g.28330355C>T	ENSP00000343248:p.Thr89Ile			Missense_Mutation	SNP	ENST00000341901.4	hg19	CCDS32416.1	.	.	.	.	.	.	.	.	.	.	c	20.4	3.991381	0.74703	.	.	ENSG00000188322	ENST00000341901	T	0.65549	-0.16	4.98	4.03	0.46877	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	0.62732	0.2452	L	0.33339	1.005	0.54753	D	0.999985	D	0.52996	0.957	P	0.57324	0.818	T	0.59958	-0.7356	10	0.35671	T	0.21	-23.5445	11.1208	0.48289	0.0:0.9084:0.0:0.0916	.	89	Q52WX2	SBK1_HUMAN	I	89	ENSP00000343248:T89I	ENSP00000343248:T89I	T	+	2	0	SBK1	28237856	1.000000	0.71417	0.989000	0.46669	0.901000	0.52897	7.769000	0.85360	1.089000	0.41292	-0.141000	0.14075	ACC		0.532	SBK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387677.1	XM_370948		T	28330355	C	T	28330355	3	4	689	1	0	0	0	0	1	0	0	0	13866	507	18	2	272	2	SBK1	16	28330355	Missense_Mutation	SNP	C	TCGA-J7-6720-01A-11D-2136-08		28330355	62024398	37	38131											
PSG2	5670	hgsc.bcm.edu	37	19	43585217	43585217	+	Nonsense_Mutation	SNP	A	A	T			TCGA-J7-6720-01A-11D-2136-08	TCGA-J7-6720-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f51e571-67b3-4e0a-a5b5-bdc9a788d1d1	ee153c70-16dc-47aa-b326-e5341dc09b2f	g.chr19:43585217A>T	ENST00000406487.1	-	2	344	c.246T>A	c.(244-246)taT>taA	p.Y82*	PSG2_ENST00000491995.1_5'Flank	NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	82	Ig-like V-type.				cell migration (GO:0016477)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				CGTCTACTACATATGATGTAA	0.438																																																0													170	174	173					19																	43585217		2203	4298	6501	SO:0001587	stop_gained	5670				CCDS12616.1	19q13.1-q13.2	2013-01-29			ENSG00000242221	ENSG00000242221		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9519	protein-coding gene	gene with protein product	"pregnancy-specific beta-1 glycoprotein", "pregnancy-specific beta-1-glycoprotein 7", "carcinoembryonic antigen SG8"	176391		PSBG2		2377620	Standard	NM_031246		Approved	PSGGB, PSG1, CEA	uc002ovr.3	P11465	OTTHUMG00000151547	ENST00000406487.1:c.246T>A	chr19.hg19:g.43585217A>T	ENSP00000385706:p.Tyr82*		Q8TCD9|Q9UEA4|Q9UQ78	Nonsense_Mutation	SNP	ENST00000406487.1	hg19	CCDS12616.1	.	.	.	.	.	.	.	.	.	.	N	10.75	1.438722	0.25900	.	.	ENSG00000242221	ENST00000406487;ENST00000329509;ENST00000401942;ENST00000406917	.	.	.	0.569	-0.723	0.11181	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	.	.	.	.	.	.	.	X	82	.	ENSP00000332984:Y82X	Y	-	3	2	PSG2	48277057	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.017000	0.12590	-0.394000	0.07727	0.155000	0.16302	TAT		0.438	PSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323083.1	NM_031246		T	43585217	A	T	43585217	4	4	689	1	0	0	0	0	0	1	0	0	12660	224	8	5	777	5	PSG2	19	43585217	Nonsense_Mutation	SNP	A	TCGA-J7-6720-01A-11D-2136-08		43585217	15543766	38	38132											
ZNF347	84671	hgsc.bcm.edu	37	19	53643573	53643575	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-J7-6720-01A-11D-2136-08	TCGA-J7-6720-10A-01D-2136-08	TGA	TGA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f51e571-67b3-4e0a-a5b5-bdc9a788d1d1	ee153c70-16dc-47aa-b326-e5341dc09b2f	g.chr19:53643573_53643575delTGA	ENST00000334197.7	-	5	2574_2576	c.2506_2508delTCA	c.(2506-2508)tcadel	p.S836del	ZNF347_ENST00000601469.2_In_Frame_Del_p.S837del|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000452676.2_In_Frame_Del_p.S837del	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	836					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)		ATGAATTCTGTGATGGCTTGCAA	0.394																																					Melanoma(64;205 1597 17324 45721)											0																																										SO:0001651	inframe_deletion	84671			AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"Zinc fingers, C2H2-type", "-"	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.2506_2508delTCA	chr19.hg19:g.53643573_53643575delTGA	ENSP00000334146:p.Ser836del		B3KU77|B9EG59|G5E9N4|Q8TCN1	In_Frame_Del	DEL	ENST00000334197.7	hg19	CCDS33097.1																																																																																				0.394	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		-	53643575	TGA	-	53643573	7	5	689	1	0	1	0	1	0	0	0	0	17866	1683	59	0	15	0	ZNF347	19	53643573	In_Frame_Del	DEL	TGA	TCGA-J7-6720-01A-11D-2136-08	10058356	53643573	5485410	39	38133											
TGM6	343641	hgsc.bcm.edu	37	20	2384361	2384361	+	Missense_Mutation	SNP	C	C	T			TCGA-J7-6720-01A-11D-2136-08	TCGA-J7-6720-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f51e571-67b3-4e0a-a5b5-bdc9a788d1d1	ee153c70-16dc-47aa-b326-e5341dc09b2f	g.chr20:2384361C>T	ENST00000202625.2	+	9	1289	c.1228C>T	c.(1228-1230)Cgg>Tgg	p.R410W	TGM6_ENST00000381423.1_Missense_Mutation_p.R410W	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	410					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)	GGATGAGAGCCGGGAGCGTGT	0.582																																																0													117	102	107					20																	2384361		2203	4300	6503	SO:0001583	missense	343641			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.1228C>T	chr20.hg19:g.2384361C>T	ENSP00000202625:p.Arg410Trp		Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Missense_Mutation	SNP	ENST00000202625.2	hg19	CCDS13025.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.707089	0.48412	.	.	ENSG00000166948	ENST00000202625;ENST00000381423	T;T	0.74526	-0.85;-0.85	4.84	2.82	0.32997	.	0.503753	0.20705	N	0.087198	T	0.76905	0.4053	L	0.49126	1.545	0.25334	N	0.989007	D;D	0.71674	0.998;0.997	P;P	0.56916	0.809;0.628	T	0.67933	-0.5542	10	0.66056	D	0.02	-13.0667	10.1216	0.42623	0.3642:0.6358:0.0:0.0	.	410;410	O95932-2;O95932	.;TGM3L_HUMAN	W	410	ENSP00000202625:R410W;ENSP00000370831:R410W	ENSP00000202625:R410W	R	+	1	2	TGM6	2332361	0.001000	0.12720	0.983000	0.44433	0.361000	0.29550	0.639000	0.24690	0.711000	0.32018	0.549000	0.68633	CGG		0.582	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994		T	2384361	C	T	2384361	3	4	689	1	0	0	0	0	1	0	0	0	15839	643	23	1	1262	1	TGM6	20	2384361	Missense_Mutation	SNP	C	TCGA-J7-6720-01A-11D-2136-08		2384361	60641159	40	38134											
COL6A2	1292	hgsc.bcm.edu	37	21	47542788	47542788	+	Splice_Site	SNP	G	G	A			TCGA-J7-6720-01A-11D-2136-08	TCGA-J7-6720-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f51e571-67b3-4e0a-a5b5-bdc9a788d1d1	ee153c70-16dc-47aa-b326-e5341dc09b2f	g.chr21:47542788G>A	ENST00000300527.4	+	21	1712		c.e21-1		COL6A2_ENST00000357838.4_Splice_Site|COL6A2_ENST00000397763.1_Splice_Site|COL6A2_ENST00000409416.1_Splice_Site|COL6A2_ENST00000310645.5_Splice_Site	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2						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)		CCCTGTCACAGGGAGGCCGAG	0.547																																																0													86	75	79					21																	47542788		2203	4298	6501	SO:0001630	splice_region_variant	1292			M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"Collagens"	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.1609-1G>A	chr21.hg19:g.47542788G>A			Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Splice_Site	SNP	ENST00000300527.4	hg19	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.073193	0.36566	.	.	ENSG00000142173	ENST00000300527;ENST00000357838;ENST00000310645;ENST00000409416;ENST00000397763;ENST00000413758	.	.	.	3.54	3.54	0.40534	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9711	0.80019	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COL6A2	46367216	1.000000	0.71417	0.991000	0.47740	0.337000	0.28794	7.524000	0.81866	1.909000	0.55274	0.491000	0.48974	.		0.547	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1		Intron	A	47542788	G	A	47542788	5	1	689	1	0	0	0	0	0	0	1	0	3702	1014	35	2	1686	2	COL6A2	21	47542788	Splice_Site	SNP	G	TCGA-J7-6720-01A-11D-2136-08		47542788	587107	41	38135											
PCNT	5116	hgsc.bcm.edu	37	21	47809247	47809247	+	Missense_Mutation	SNP	A	A	T			TCGA-J7-6720-01A-11D-2136-08	TCGA-J7-6720-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f51e571-67b3-4e0a-a5b5-bdc9a788d1d1	ee153c70-16dc-47aa-b326-e5341dc09b2f	g.chr21:47809247A>T	ENST00000359568.5	+	19	3848	c.3741A>T	c.(3739-3741)gaA>gaT	p.E1247D	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1247					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)					TGAGCCCAGAAAGTGTGCGGG	0.587																																																0													95	94	94					21																	47809247		2203	4300	6503	SO:0001583	missense	5116			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"kendrin", "Seckel syndrome 4"	605925	"pericentrin 2 (kendrin)"	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.3741A>T	chr21.hg19:g.47809247A>T	ENSP00000352572:p.Glu1247Asp		O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	hg19	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	A	15.19	2.761428	0.49468	.	.	ENSG00000160299	ENST00000359568	T	0.02032	4.49	5.44	-10.3	0.00346	.	.	.	.	.	T	0.07279	0.0184	M	0.70275	2.135	0.09310	N	1	B;D	0.76494	0.193;0.999	B;D	0.78314	0.08;0.991	T	0.02269	-1.1185	9	0.66056	D	0.02	.	8.9466	0.35762	0.6619:0.2264:0.1118:0.0	.	1129;1247	O95613-2;O95613	.;PCNT_HUMAN	D	1247	ENSP00000352572:E1247D	ENSP00000352572:E1247D	E	+	3	2	PCNT	46633675	0.000000	0.05858	0.000000	0.03702	0.169000	0.22640	-1.857000	0.01660	-1.903000	0.01093	-0.456000	0.05471	GAA		0.587	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		T	47809247	A	T	47809247	3	4	689	1	0	0	0	0	1	0	0	0	11592	11	1	5	3815	5	PCNT	21	47809247	Missense_Mutation	SNP	A	TCGA-J7-6720-01A-11D-2136-08	266459	47809247	320648	42	38136											
OSBP2	23762	hgsc.bcm.edu	37	22	31137192	31137192	+	Missense_Mutation	SNP	T	T	A			TCGA-J7-6720-01A-11D-2136-08	TCGA-J7-6720-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f51e571-67b3-4e0a-a5b5-bdc9a788d1d1	ee153c70-16dc-47aa-b326-e5341dc09b2f	g.chr22:31137192T>A	ENST00000332585.6	+	2	793	c.689T>A	c.(688-690)cTg>cAg	p.L230Q	OSBP2_ENST00000446658.2_Missense_Mutation_p.L230Q|OSBP2_ENST00000382310.3_Missense_Mutation_p.L230Q|OSBP2_ENST00000403222.3_Missense_Mutation_p.L65Q|OSBP2_ENST00000407373.1_Missense_Mutation_p.L57Q	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	230	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						ACCATCAACCTGTCCACCGCG	0.567																																																0													51	53	53					22																	31137192		2028	4163	6191	SO:0001583	missense	23762				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.689T>A	chr22.hg19:g.31137192T>A	ENSP00000332576:p.Leu230Gln		B0QYG1|B4DK24|B4DKE4|B4DTR3|F5H2A3|O60396|Q0VF99|Q8NA37|Q9BY96|Q9BZF0	Missense_Mutation	SNP	ENST00000332585.6	hg19	CCDS43002.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.662468	0.88251	.	.	ENSG00000184792	ENST00000438716;ENST00000403222;ENST00000407373;ENST00000332585;ENST00000382310;ENST00000446658	T;T;D;D;D	0.84146	-0.42;-0.41;-1.81;-1.81;-1.81	5.38	5.38	0.77491	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.64402	D	0.000005	D	0.95943	0.8679	H	0.99516	4.605	0.80722	D	1	D;D;D;D;D	0.89917	0.998;1.0;1.0;0.999;1.0	D;D;D;D;D	0.81914	0.989;0.98;0.98;0.995;0.995	D	0.97875	1.0288	10	0.87932	D	0	-22.7415	15.0591	0.71939	0.0:0.0:0.0:1.0	.	230;65;57;230;230	B4DFA8;B4DKE4;Q6ZN50;Q0VF99;Q969R2	.;.;.;.;OSBP2_HUMAN	Q	65;65;57;230;230;230	ENSP00000384213:L65Q;ENSP00000385237:L57Q;ENSP00000332576:L230Q;ENSP00000371747:L230Q;ENSP00000392080:L230Q	ENSP00000332576:L230Q	L	+	2	0	OSBP2	29467192	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	8.040000	0.89188	2.040000	0.60383	0.379000	0.24179	CTG		0.567	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321547.2	NM_030758		A	31137192	T	A	31137192	3	1	689	1	0	0	0	0	1	0	0	0	11276	1580	55	5	695	5	OSBP2	22	31137192	Missense_Mutation	SNP	T	TCGA-J7-6720-01A-11D-2136-08		31137192	20167374	43	38137											
TTLL12	23170	hgsc.bcm.edu	37	22	43579135	43579149	+	In_Frame_Del	DEL	CACTTCCCCAGCGTC	CACTTCCCCAGCGTC	-	rs146360108|rs571455195		TCGA-J7-6720-01A-11D-2136-08	TCGA-J7-6720-10A-01D-2136-08	CACTTCCCCAGCGTC	CACTTCCCCAGCGTC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f51e571-67b3-4e0a-a5b5-bdc9a788d1d1	ee153c70-16dc-47aa-b326-e5341dc09b2f	g.chr22:43579135_43579149delCACTTCCCCAGCGTC	ENST00000216129.6	-	2	247_261	c.184_198delGACGCTGGGGAAGTG	c.(184-198)gacgctggggaagtgdel	p.DAGEV62del		NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	62					cellular protein modification process (GO:0006464)			p.D62D(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				TGATCCCAAACACTTCCCCAGCGTCGAAAACCTGG	0.637																																																1	Substitution - coding silent(1)	large_intestine(1)																																								SO:0001651	inframe_deletion	23170			D63487	CCDS14047.1	22q13.31	2013-02-14	2006-02-02		ENSG00000100304	ENSG00000100304		"Tubulin tyrosine ligase-like family"	28974	protein-coding gene	gene with protein product						15890843	Standard	NM_015140		Approved	KIAA0153	uc003bdp.3	Q14166	OTTHUMG00000150682	ENST00000216129.6:c.184_198delGACGCTGGGGAAGTG	chr22.hg19:g.43579135_43579149delCACTTCCCCAGCGTC	ENSP00000216129:p.Asp62_Val66del		Q20WK5|Q9UGU3	In_Frame_Del	DEL	ENST00000216129.6	hg19	CCDS14047.1																																																																																				0.637	TTLL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319611.1	NM_015140		-	43579149	CACTTCCCCAGCGTC	-	43579135	7	5	689	1	0	1	0	1	0	0	0	0	16730	465	17	0	1788	0	TTLL12	22	43579135	In_Frame_Del	DEL	CACTTCCCCAGCGTC	TCGA-J7-6720-01A-11D-2136-08	12441943	43579135	7725431	44	38138											
SLITRK4	139065	hgsc.bcm.edu	37	X	142718336	142718336	+	Missense_Mutation	SNP	C	C	A			TCGA-J7-6720-01A-11D-2136-08	TCGA-J7-6720-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f51e571-67b3-4e0a-a5b5-bdc9a788d1d1	ee153c70-16dc-47aa-b326-e5341dc09b2f	g.chrX:142718336C>A	ENST00000381779.4	-	2	814	c.589G>T	c.(589-591)Ggg>Tgg	p.G197W	SLITRK4_ENST00000356928.1_Missense_Mutation_p.G197W|SLITRK4_ENST00000338017.4_Missense_Mutation_p.G197W	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	197						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)					TCCAGAACCCCGATATAAGGG	0.433																																																0													78	76	77					X																	142718336		2203	4300	6503	SO:0001583	missense	139065			BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.589G>T	chrX.hg19:g.142718336C>A	ENSP00000371198:p.Gly197Trp		Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	ENST00000381779.4	hg19	CCDS14679.1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.315367	0.60524	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.55413	0.52;0.52;0.52	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.79034	0.4378	M	0.91038	3.17	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84122	0.0407	10	0.87932	D	0	-6.8478	17.0529	0.86524	0.0:1.0:0.0:0.0	.	197	Q8IW52	SLIK4_HUMAN	W	197	ENSP00000371198:G197W;ENSP00000349400:G197W;ENSP00000336627:G197W	ENSP00000336627:G197W	G	-	1	0	SLITRK4	142546002	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	7.818000	0.86416	2.347000	0.79759	0.600000	0.82982	GGG		0.433	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		A	142718336	C	A	142718336	3	1	689	1	0	0	0	0	1	0	0	0	14751	652	23	4	1928	4	SLITRK4	23	142718336	Missense_Mutation	SNP	C	TCGA-J7-6720-01A-11D-2136-08		142718336	12552224	45	38139											
PRDM16	63976	hgsc.bcm.edu	37	1	3334451	3334451	+	Silent	SNP	C	C	T			TCGA-J7-8537-01A-11D-2396-08	TCGA-J7-8537-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3cf4b130-0aa3-407e-9fea-bd8ddd8b7d5b	56af51d5-45a7-4a64-ba3e-f810d95407f8	g.chr1:3334451C>T	ENST00000270722.5	+	11	2800	c.2751C>T	c.(2749-2751)gaC>gaT	p.D917D	PRDM16_ENST00000378398.3_Silent_p.D917D|PRDM16_ENST00000514189.1_Silent_p.D917D|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000378391.2_Silent_p.D917D|PRDM16_ENST00000442529.2_Silent_p.D916D|PRDM16_ENST00000511072.1_Silent_p.D918D|PRDM16_ENST00000441472.2_Silent_p.D916D			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	917	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)		TGAAGGCGGACTCGGGCAGCT	0.602			T	EVI1	"MDS, AML"																																		Dom	yes		1	1p36.23-p33	63976	PR domain containing 16		L	0													97	108	104					1																	3334451		2039	4191	6230	SO:0001819	synonymous_variant	63976			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.2751C>T	chr1.hg19:g.3334451C>T			A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Silent	SNP	ENST00000270722.5	hg19	CCDS41236.2																																																																																				0.602	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114		T	3334451	C	T	3334451	2	4	690	1	0	0	0	0	0	0	0	1	12462	564	20	2		2	PRDM16	1	3334451	Silent	SNP	C	TCGA-J7-8537-01A-11D-2396-08		3334451	245916170	1	38140											
TAS1R2	80834	hgsc.bcm.edu	37	1	19176018	19176018	+	Missense_Mutation	SNP	G	G	T			TCGA-J7-8537-01A-11D-2396-08	TCGA-J7-8537-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3cf4b130-0aa3-407e-9fea-bd8ddd8b7d5b	56af51d5-45a7-4a64-ba3e-f810d95407f8	g.chr1:19176018G>T	ENST00000375371.3	-	4	1305	c.1284C>A	c.(1282-1284)aaC>aaA	p.N428K	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	428					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)	GGAGAGTGAAGTTGACCTTCC	0.552																																																0													64	59	61					1																	19176018		2203	4300	6503	SO:0001583	missense	80834				CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	14905	protein-coding gene	gene with protein product		606226	"G protein-coupled receptor 71"	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.1284C>A	chr1.hg19:g.19176018G>T	ENSP00000364520:p.Asn428Lys		Q5TZ19	Missense_Mutation	SNP	ENST00000375371.3	hg19	CCDS187.1	.	.	.	.	.	.	.	.	.	.	G	16.45	3.127587	0.56721	.	.	ENSG00000179002	ENST00000375371	D	0.86497	-2.13	5.16	2.1	0.27182	Extracellular ligand-binding receptor (1);	0.344112	0.24479	N	0.038174	D	0.87908	0.6296	L	0.48935	1.535	0.28764	N	0.900721	D	0.71674	0.998	D	0.66979	0.948	T	0.79815	-0.1644	10	0.52906	T	0.07	.	5.3671	0.16119	0.194:0.1632:0.6428:0.0	.	428	Q8TE23	TS1R2_HUMAN	K	428	ENSP00000364520:N428K	ENSP00000364520:N428K	N	-	3	2	TAS1R2	19048605	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	0.985000	0.29578	0.518000	0.28383	0.561000	0.74099	AAC		0.552	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1			T	19176018	G	T	19176018	3	4	690	1	0	0	0	0	1	0	0	0	15568	1020	36	4	1247	4	TAS1R2	1	19176018	Missense_Mutation	SNP	G	TCGA-J7-8537-01A-11D-2396-08	15841567	19176018	230074603	2	38141											
ALDH4A1	8659	hgsc.bcm.edu	37	1	19201049	19201049	+	Missense_Mutation	SNP	A	A	G			TCGA-J7-8537-01A-11D-2396-08	TCGA-J7-8537-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3cf4b130-0aa3-407e-9fea-bd8ddd8b7d5b	56af51d5-45a7-4a64-ba3e-f810d95407f8	g.chr1:19201049A>G	ENST00000375341.3	-	14	1744	c.1487T>C	c.(1486-1488)gTg>gCg	p.V496A	RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000538309.1_Missense_Mutation_p.V436A|ALDH4A1_ENST00000290597.5_Missense_Mutation_p.V496A|ALDH4A1_ENST00000538839.1_Missense_Mutation_p.V445A	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	496					4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|proline biosynthetic process (GO:0006561)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	1-pyrroline-5-carboxylate dehydrogenase activity (GO:0003842)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|electron carrier activity (GO:0009055)|identical protein binding (GO:0042802)			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ATTCCTCAGCACCTTTGTGGC	0.617																																																0													183	149	160					1																	19201049		2203	4300	6503	SO:0001583	missense	8659			U24266	CCDS188.1, CCDS53272.1	1p36	2008-02-05			ENSG00000159423	ENSG00000159423	1.5.1.12	"Aldehyde dehydrogenases"	406	protein-coding gene	gene with protein product		606811		ALDH4		8621661	Standard	NM_003748		Approved	P5CDh	uc001bbc.3	P30038	OTTHUMG00000002443	ENST00000375341.3:c.1487T>C	chr1.hg19:g.19201049A>G	ENSP00000364490:p.Val496Ala		A8K1Q7|B4DGE4|D2D4A3|Q16882|Q53HU4|Q5JNV6|Q8IZ38|Q96IF0|Q9UDI6	Missense_Mutation	SNP	ENST00000375341.3	hg19	CCDS188.1	.	.	.	.	.	.	.	.	.	.	A	0.577	-0.838870	0.02692	.	.	ENSG00000159423	ENST00000290597;ENST00000375341;ENST00000538839;ENST00000538309	T;T;T;T	0.74632	-0.86;-0.86;1.68;-0.86	5.36	4.24	0.50183	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.644592	0.17853	N	0.159761	T	0.42471	0.1204	N	0.02697	-0.525	0.23113	N	0.998271	B	0.02656	0.0	B	0.06405	0.002	T	0.33574	-0.9863	10	0.07644	T	0.81	-25.7928	5.0242	0.14376	0.7201:0.1868:0.0931:0.0	.	496	P30038	AL4A1_HUMAN	A	496;496;445;436	ENSP00000290597:V496A;ENSP00000364490:V496A;ENSP00000446071:V445A;ENSP00000442988:V436A	ENSP00000290597:V496A	V	-	2	0	ALDH4A1	19073636	0.387000	0.25188	0.907000	0.35723	0.356000	0.29392	3.436000	0.52856	2.025000	0.59659	0.459000	0.35465	GTG		0.617	ALDH4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006954.1			G	19201049	A	G	19201049	3	3	690	1	0	0	0	0	1	0	0	0	501	159	6	3	212	3	ALDH4A1	1	19201049	Missense_Mutation	SNP	A	TCGA-J7-8537-01A-11D-2396-08	25031	19201049	230049572	3	38142											
ARID1A	8289	hgsc.bcm.edu	37	1	27106580	27106580	+	Missense_Mutation	SNP	T	T	C			TCGA-J7-8537-01A-11D-2396-08	TCGA-J7-8537-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3cf4b130-0aa3-407e-9fea-bd8ddd8b7d5b	56af51d5-45a7-4a64-ba3e-f810d95407f8	g.chr1:27106580T>C	ENST00000324856.7	+	20	6562	c.6191T>C	c.(6190-6192)cTc>cCc	p.L2064P	ARID1A_ENST00000457599.2_Missense_Mutation_p.L1847P|ARID1A_ENST00000374152.2_Missense_Mutation_p.L1681P|ARID1A_ENST00000540690.1_Missense_Mutation_p.L392P	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	2064					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)		TTGGTTACACTCGCCAACATC	0.557			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																		Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0													136	137	137					1																	27106580		2203	4300	6503	SO:0001583	missense	8289			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.6191T>C	chr1.hg19:g.27106580T>C	ENSP00000320485:p.Leu2064Pro		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	hg19	CCDS285.1	.	.	.	.	.	.	.	.	.	.	T	19.26	3.793741	0.70452	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152;ENST00000540690	T;T;T;T	0.71698	0.88;0.88;0.88;-0.59	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	D	0.84447	0.5474	M	0.81239	2.535	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	0.86848	0.2021	10	0.87932	D	0	-10.1896	15.3414	0.74300	0.0:0.0:0.0:1.0	.	1681;2064;1847	O14497-3;O14497;O14497-2	.;ARI1A_HUMAN;.	P	2064;1847;1681;392	ENSP00000320485:L2064P;ENSP00000387636:L1847P;ENSP00000363267:L1681P;ENSP00000442437:L392P	ENSP00000320485:L2064P	L	+	2	0	ARID1A	26979167	1.000000	0.71417	0.585000	0.28666	0.975000	0.68041	7.676000	0.84012	2.273000	0.75805	0.482000	0.46254	CTC		0.557	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		C	27106580	T	C	27106580	3	2	690	1	0	0	0	0	1	0	0	0	913	1551	54	3	6269	3	ARID1A	1	27106580	Missense_Mutation	SNP	T	TCGA-J7-8537-01A-11D-2396-08	7905531	27106580	222144041	4	38143											
HIVEP3	59269	hgsc.bcm.edu	37	1	42047804	42047804	+	Missense_Mutation	SNP	G	G	A			TCGA-J7-8537-01A-11D-2396-08	TCGA-J7-8537-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3cf4b130-0aa3-407e-9fea-bd8ddd8b7d5b	56af51d5-45a7-4a64-ba3e-f810d95407f8	g.chr1:42047804G>A	ENST00000372583.1	-	4	3550	c.2665C>T	c.(2665-2667)Cgc>Tgc	p.R889C	HIVEP3_ENST00000247584.5_Missense_Mutation_p.R889C|HIVEP3_ENST00000372584.1_Missense_Mutation_p.R889C|HIVEP3_ENST00000429157.2_Missense_Mutation_p.R889C|HIVEP3_ENST00000460604.1_5'Flank	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	889	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.R889C(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)				GTCTGGCTGCGCTGGGGCCAT	0.597																																																1	Substitution - Missense(1)	large_intestine(1)											54	63	60					1																	42047804		2203	4300	6503	SO:0001583	missense	59269			AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"Zinc fingers, C2H2-type"	13561	protein-coding gene	gene with protein product	"kappabinding protein-1"	606649	"human immunodeficiency virus type I enhancer-binding protein 3"			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.2665C>T	chr1.hg19:g.42047804G>A	ENSP00000361664:p.Arg889Cys		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	hg19	CCDS463.1	.	.	.	.	.	.	.	.	.	.	G	18.70	3.679130	0.68042	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.61859	0.07;0.07;0.07;0.07	4.95	4.95	0.65309	.	0.000000	0.53938	D	0.000060	T	0.73466	0.3590	M	0.76727	2.345	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.76107	-0.3080	10	0.87932	D	0	2.8066	11.1037	0.48190	0.0:0.0:0.6936:0.3063	.	889;889	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	C	889	ENSP00000361665:R889C;ENSP00000361664:R889C;ENSP00000247584:R889C;ENSP00000410828:R889C	ENSP00000247584:R889C	R	-	1	0	HIVEP3	41820391	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	5.841000	0.69409	2.562000	0.86427	0.462000	0.41574	CGC		0.597	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		A	42047804	G	A	42047804	3	1	690	1	0	0	0	0	1	0	0	0	7190	1087	38	1	4579	1	HIVEP3	1	42047804	Missense_Mutation	SNP	G	TCGA-J7-8537-01A-11D-2396-08	14941224	42047804	207202817	5	38144											
FNBP1L	54874	hgsc.bcm.edu	37	1	94009756	94009756	+	Silent	SNP	G	G	A			TCGA-J7-8537-01A-11D-2396-08	TCGA-J7-8537-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3cf4b130-0aa3-407e-9fea-bd8ddd8b7d5b	56af51d5-45a7-4a64-ba3e-f810d95407f8	g.chr1:94009756G>A	ENST00000271234.7	+	12	1408	c.1257G>A	c.(1255-1257)caG>caA	p.Q419Q	FNBP1L_ENST00000370253.2_Silent_p.Q361Q|FNBP1L_ENST00000604705.1_Silent_p.Q419Q|FNBP1L_ENST00000370256.4_Silent_p.Q414Q|FNBP1L_ENST00000260506.8_Silent_p.Q361Q	NM_001164473.2	NP_001157945.1	Q5T0N5	FBP1L_HUMAN	formin binding protein 1-like	419	Interaction with CDC42.				autophagy (GO:0006914)|clathrin-mediated endocytosis (GO:0072583)|membrane budding (GO:0006900)|membrane invagination (GO:0010324)|membrane tubulation (GO:0097320)|positive regulation of filopodium assembly (GO:0051491)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1)	11		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)		GAGAACTACAGAAAGAATCAG	0.373																																																0													71	67	68					1																	94009756		1827	4080	5907	SO:0001819	synonymous_variant	54874				CCDS53343.1, CCDS53344.1, CCDS60192.1	1p22.1	2008-02-05	2004-11-16	2004-11-17	ENSG00000137942	ENSG00000137942			20851	protein-coding gene	gene with protein product		608848	"chromosome 1 open reading frame 39"	C1orf39		14654988	Standard	NM_017737		Approved	TOCA1, FLJ20275	uc010otk.2	Q5T0N5	OTTHUMG00000010863	ENST00000271234.7:c.1257G>A	chr1.hg19:g.94009756G>A			J3QSS4|Q5T0N6|Q6B097|Q6P653|Q6R4Q4|Q9NXG1	Silent	SNP	ENST00000271234.7	hg19	CCDS53343.1																																																																																				0.373	FNBP1L-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_017737		A	94009756	G	A	94009756	2	1	690	1	0	0	0	0	0	0	0	1	5968	933	33	2		2	FNBP1L	1	94009756	Silent	SNP	G	TCGA-J7-8537-01A-11D-2396-08	51961952	94009756	155240865	6	38145											
FLG	2312	hgsc.bcm.edu	37	1	152277075	152277075	+	Missense_Mutation	SNP	C	C	A			TCGA-J7-8537-01A-11D-2396-08	TCGA-J7-8537-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3cf4b130-0aa3-407e-9fea-bd8ddd8b7d5b	56af51d5-45a7-4a64-ba3e-f810d95407f8	g.chr1:152277075C>A	ENST00000368799.1	-	3	10322	c.10287G>T	c.(10285-10287)gaG>gaT	p.E3429D	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3429	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)			TGTCCTGACCCTCTTGGGACG	0.612									Ichthyosis																																							0													245	252	250					1																	152277075		2203	4299	6502	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.10287G>T	chr1.hg19:g.152277075C>A	ENSP00000357789:p.Glu3429Asp		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	hg19	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.296547	0.40594	.	.	ENSG00000143631	ENST00000368799	T	0.01705	4.68	4.17	-5.64	0.02466	.	.	.	.	.	T	0.00754	0.0025	L	0.41824	1.3	0.09310	N	1	P	0.44478	0.836	P	0.54499	0.754	T	0.31943	-0.9925	9	0.20046	T	0.44	.	0.6472	0.00820	0.3782:0.2562:0.1242:0.2414	.	3429	P20930	FILA_HUMAN	D	3429	ENSP00000357789:E3429D	ENSP00000357789:E3429D	E	-	3	2	FLG	150543699	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-6.083000	0.00082	-1.572000	0.01661	0.454000	0.30748	GAG		0.612	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		A	152277075	C	A	152277075	3	1	690	1	0	0	0	0	1	0	0	0	5924	680	24	4	1902	4	FLG	1	152277075	Missense_Mutation	SNP	C	TCGA-J7-8537-01A-11D-2396-08	58267319	152277075	96973546	7	38146											
CEP350	9857	hgsc.bcm.edu	37	1	180047678	180047678	+	Missense_Mutation	SNP	A	A	T			TCGA-J7-8537-01A-11D-2396-08	TCGA-J7-8537-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3cf4b130-0aa3-407e-9fea-bd8ddd8b7d5b	56af51d5-45a7-4a64-ba3e-f810d95407f8	g.chr1:180047678A>T	ENST00000367607.3	+	29	6266	c.5848A>T	c.(5848-5850)Agc>Tgc	p.S1950C		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1950					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						AGAATTAGGCAGCCCTGCTGT	0.433																																																0													65	63	63					1																	180047678		2203	4300	6503	SO:0001583	missense	9857			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.5848A>T	chr1.hg19:g.180047678A>T	ENSP00000356579:p.Ser1950Cys		O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	hg19	CCDS1336.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.0|21.0	4.087658|4.087658	0.76642|0.76642	.|.	.|.	ENSG00000135837|ENSG00000135837	ENST00000429851|ENST00000367607	.|T	.|0.57907	.|0.37	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	.|0.000000	.|0.53938	.|D	.|0.000045	T|T	0.70254|0.70254	0.3203|0.3203	M|M	0.71581|0.71581	2.175|2.175	0.49299|0.49299	D|D	0.999774|0.999774	.|D;D	.|0.76494	.|0.999;0.999	.|D;D	.|0.79784	.|0.993;0.988	T|T	0.71573|0.71573	-0.4552|-0.4552	5|9	.|.	.|.	.|.	.|.	14.1282|14.1282	0.65235|0.65235	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1950;1950	.|E7EU22;Q5VT06	.|.;CE350_HUMAN	L|C	124|1950	.|ENSP00000356579:S1950C	.|.	Q|S	+|+	2|1	0|0	CEP350|CEP350	178314301|178314301	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.777000|0.777000	0.43975|0.43975	4.336000|4.336000	0.59304|0.59304	2.140000|2.140000	0.66376|0.66376	0.482000|0.482000	0.46254|0.46254	CAG|AGC		0.433	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		T	180047678	A	T	180047678	3	4	690	1	0	0	0	0	1	0	0	0	3256	188	7	5	5958	5	CEP350	1	180047678	Missense_Mutation	SNP	A	TCGA-J7-8537-01A-11D-2396-08	27770603	180047678	69202943	8	38147											
RYR2	6262	hgsc.bcm.edu	37	1	237617770	237617770	+	Missense_Mutation	SNP	G	G	T			TCGA-J7-8537-01A-11D-2396-08	TCGA-J7-8537-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3cf4b130-0aa3-407e-9fea-bd8ddd8b7d5b	56af51d5-45a7-4a64-ba3e-f810d95407f8	g.chr1:237617770G>T	ENST00000366574.2	+	15	1689	c.1372G>T	c.(1372-1374)Gat>Tat	p.D458Y	RYR2_ENST00000360064.6_Missense_Mutation_p.D456Y|RYR2_ENST00000542537.1_Missense_Mutation_p.D442Y	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	458					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)			AAGTCTGCAGGATCTCATTGG	0.463																																																0													84	82	82					1																	237617770		1919	4125	6044	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.1372G>T	chr1.hg19:g.237617770G>T	ENSP00000355533:p.Asp458Tyr		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	hg19	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.403612	0.62288	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.91180	-2.8;-2.8;-2.8	5.8	5.8	0.92144	Intracellular calcium-release channel (1);	0.000000	0.64402	U	0.000006	D	0.96131	0.8739	M	0.87180	2.865	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	D	0.96166	0.9119	10	0.87932	D	0	.	20.0679	0.97707	0.0:0.0:1.0:0.0	.	458	Q92736	RYR2_HUMAN	Y	458;456;442	ENSP00000355533:D458Y;ENSP00000353174:D456Y;ENSP00000443798:D442Y	ENSP00000353174:D456Y	D	+	1	0	RYR2	235684393	1.000000	0.71417	1.000000	0.80357	0.023000	0.10783	9.804000	0.99143	2.747000	0.94245	0.551000	0.68910	GAT		0.463	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		T	237617770	G	T	237617770	3	4	690	1	0	0	0	0	1	0	0	0	13775	1174	41	4	1430	4	RYR2	1	237617770	Missense_Mutation	SNP	G	TCGA-J7-8537-01A-11D-2396-08	57570092	237617770	11632851	9	38148											
GEN1	348654	hgsc.bcm.edu	37	2	17962008	17962008	+	Missense_Mutation	SNP	G	G	A			TCGA-J7-8537-01A-11D-2396-08	TCGA-J7-8537-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3cf4b130-0aa3-407e-9fea-bd8ddd8b7d5b	56af51d5-45a7-4a64-ba3e-f810d95407f8	g.chr2:17962008G>A	ENST00000381254.2	+	14	1743	c.1529G>A	c.(1528-1530)gGg>gAg	p.G510E	GEN1_ENST00000317402.7_Missense_Mutation_p.G510E|SMC6_ENST00000402989.1_Intron	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	510					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)					TTAAATTCGGGGATTTCCCCT	0.373								Homologous recombination																																								0													82	80	80					2																	17962008		2203	4300	6503	SO:0001583	missense	348654			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.1529G>A	chr2.hg19:g.17962008G>A	ENSP00000370653:p.Gly510Glu		Q17RS9|Q6ZN37	Missense_Mutation	SNP	ENST00000381254.2	hg19	CCDS1691.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.178672	0.00308	.	.	ENSG00000178295	ENST00000317402;ENST00000381254;ENST00000528873;ENST00000536097	T;T;T	0.38560	1.96;1.96;1.13	5.46	1.86	0.25419	.	0.276329	0.30742	N	0.008968	T	0.11196	0.0273	N	0.01048	-1.04	0.09310	N	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.36939	-0.9727	10	0.02654	T	1	-9.6119	7.6912	0.28569	0.7505:0.0:0.2495:0.0	.	510	Q17RS7	GEN_HUMAN	E	510;510;281;147	ENSP00000318977:G510E;ENSP00000370653:G510E;ENSP00000431542:G281E	ENSP00000318977:G510E	G	+	2	0	GEN1	17825489	0.204000	0.23447	0.429000	0.26710	0.003000	0.03518	1.257000	0.32932	0.473000	0.27368	-0.469000	0.05056	GGG		0.373	GEN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241661.2	NM_182625		A	17962008	G	A	17962008	3	1	690	1	0	0	0	0	1	0	0	0	6337	1232	43	2	1579	2	GEN1	2	17962008	Missense_Mutation	SNP	G	TCGA-J7-8537-01A-11D-2396-08		17962008	225237365	10	38149											
APOB	338	hgsc.bcm.edu	37	2	21238283	21238283	+	Missense_Mutation	SNP	G	G	A			TCGA-J7-8537-01A-11D-2396-08	TCGA-J7-8537-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3cf4b130-0aa3-407e-9fea-bd8ddd8b7d5b	56af51d5-45a7-4a64-ba3e-f810d95407f8	g.chr2:21238283G>A	ENST00000233242.1	-	22	3594	c.3467C>T	c.(3466-3468)gCt>gTt	p.A1156V		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1156					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)					GGAGCCATAAGCTGTAGCAGA	0.507																																																0													140	121	128					2																	21238283		2203	4300	6503	SO:0001583	missense	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.3467C>T	chr2.hg19:g.21238283G>A	ENSP00000233242:p.Ala1156Val		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	hg19	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.830038	0.50845	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00686	5.85	5.49	5.49	0.81192	.	0.100022	0.44483	D	0.000457	T	0.01870	0.0059	M	0.67953	2.075	0.80722	D	1	D	0.58620	0.983	P	0.53313	0.723	T	0.63216	-0.6687	10	0.06099	T	0.92	.	13.2457	0.60022	0.0756:0.0:0.9244:0.0	.	1156	P04114	APOB_HUMAN	V	1156	ENSP00000233242:A1156V	ENSP00000233242:A1156V	A	-	2	0	APOB	21091788	0.822000	0.29219	0.991000	0.47740	0.903000	0.53119	1.269000	0.33074	2.767000	0.95098	0.655000	0.94253	GCT		0.507	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			A	21238283	G	A	21238283	3	1	690	1	0	0	0	0	1	0	0	0	785	971	34	2	10256	2	APOB	2	21238283	Missense_Mutation	SNP	G	TCGA-J7-8537-01A-11D-2396-08	3276275	21238283	221961090	11	38150											
LRP1B	53353	hgsc.bcm.edu	37	2	141607702	141607702	+	Silent	SNP	G	G	A	rs368565366		TCGA-J7-8537-01A-11D-2396-08	TCGA-J7-8537-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3cf4b130-0aa3-407e-9fea-bd8ddd8b7d5b	56af51d5-45a7-4a64-ba3e-f810d95407f8	g.chr2:141607702G>A	ENST00000389484.3	-	29	5879	c.4908C>T	c.(4906-4908)aaC>aaT	p.N1636N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1636					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)		ACCCAGTTCCGTTAATAAAAG	0.318										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)											0								A		1,4405	4.2+/-10.8	0,1,2202	162	169	167		4908	0.2	1	2		167	0,8600		0,0,4300	no	coding-synonymous	LRP1B	NM_018557.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		1636/4600	141607702	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.4908C>T	chr2.hg19:g.141607702G>A			Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	hg19	CCDS2182.1																																																																																				0.318	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		A	141607702	G	A	141607702	2	1	690	1	0	0	0	0	0	0	0	1	8957	1136	40	1		1	LRP1B	2	141607702	Silent	SNP	G	TCGA-J7-8537-01A-11D-2396-08	120369419	141607702	101591671	12	38151											
IGSF10	285313	hgsc.bcm.edu	37	3	151161388	151161388	+	Missense_Mutation	SNP	T	T	A			TCGA-J7-8537-01A-11D-2396-08	TCGA-J7-8537-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3cf4b130-0aa3-407e-9fea-bd8ddd8b7d5b	56af51d5-45a7-4a64-ba3e-f810d95407f8	g.chr3:151161388T>A	ENST00000282466.3	-	5	5346	c.5347A>T	c.(5347-5349)Aac>Tac	p.N1783Y	IGSF10_ENST00000495443.1_5'Flank	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	1783	Ig-like C2-type 4.				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)			ACTGTTTGGTTTGCAAGAATC	0.498																																																0													125	112	116					3																	151161388		2203	4300	6503	SO:0001583	missense	285313			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"Immunoglobulin superfamily / I-set domain containing"	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.5347A>T	chr3.hg19:g.151161388T>A	ENSP00000282466:p.Asn1783Tyr		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	hg19	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	T	18.09	3.546893	0.65198	.	.	ENSG00000152580	ENST00000282466;ENST00000544042	T	0.80909	-1.43	5.25	5.25	0.73442	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.52532	D	0.000074	D	0.89522	0.6739	M	0.85099	2.735	0.58432	D	0.999991	D	0.89917	1.0	D	0.97110	1.0	D	0.90304	0.4332	9	.	.	.	.	11.1386	0.48390	0.0:0.0747:0.0:0.9253	.	1783	Q6WRI0	IGS10_HUMAN	Y	1783;410	ENSP00000282466:N1783Y	.	N	-	1	0	IGSF10	152644078	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.209000	0.58493	1.989000	0.58080	0.477000	0.44152	AAC		0.498	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		A	151161388	T	A	151161388	3	1	690	1	0	0	0	0	1	0	0	0	7599	1841	64	5	2580	5	IGSF10	3	151161388	Missense_Mutation	SNP	T	TCGA-J7-8537-01A-11D-2396-08		151161388	46861042	13	38152											
GOLIM4	27333	hgsc.bcm.edu	37	3	167742778	167742778	+	Missense_Mutation	SNP	T	T	C			TCGA-J7-8537-01A-11D-2396-08	TCGA-J7-8537-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3cf4b130-0aa3-407e-9fea-bd8ddd8b7d5b	56af51d5-45a7-4a64-ba3e-f810d95407f8	g.chr3:167742778T>C	ENST00000470487.1	-	13	2418	c.1729A>G	c.(1729-1731)Aat>Gat	p.N577D	GOLIM4_ENST00000309027.4_Missense_Mutation_p.N549D	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	577	Glu-rich.				transport (GO:0006810)	cis-Golgi network (GO:0005801)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TGCTCTTCATTTTCATCTGGC	0.408																																																0													220	192	202					3																	167742778		2203	4300	6503	SO:0001583	missense	27333			U55853	CCDS3204.1	3q26	2007-07-30	2007-07-30	2007-07-30	ENSG00000173905	ENSG00000173905			15448	protein-coding gene	gene with protein product		606805	"golgi phosphoprotein 4"	GOLPH4		9201717, 15004235	Standard	NM_014498		Approved	GPP130, GIMPC, P138	uc003ffe.2	O00461	OTTHUMG00000158554	ENST00000470487.1:c.1729A>G	chr3.hg19:g.167742778T>C	ENSP00000417354:p.Asn577Asp			Missense_Mutation	SNP	ENST00000470487.1	hg19	CCDS3204.1	.	.	.	.	.	.	.	.	.	.	T	18.56	3.649660	0.67358	.	.	ENSG00000173905	ENST00000470487;ENST00000309027	.	.	.	6.0	6.0	0.97389	.	0.224151	0.53938	D	0.000046	T	0.55577	0.1929	M	0.69823	2.125	0.35647	D	0.811481	P;P	0.40875	0.731;0.731	B;B	0.36845	0.234;0.234	T	0.63937	-0.6524	9	0.15499	T	0.54	-6.4985	16.56	0.84537	0.0:0.0:0.0:1.0	.	549;577	F8W785;O00461	.;GOLI4_HUMAN	D	577;549	.	ENSP00000309893:N549D	N	-	1	0	GOLIM4	169225472	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.450000	0.60041	2.313000	0.78055	0.454000	0.30748	AAT		0.408	GOLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351278.2			C	167742778	T	C	167742778	3	2	690	1	0	0	0	0	1	0	0	0	6568	1841	64	3	377	3	GOLIM4	3	167742778	Missense_Mutation	SNP	T	TCGA-J7-8537-01A-11D-2396-08	16581390	167742778	30279652	14	38153											
CENPE	1062	hgsc.bcm.edu	37	4	104117119	104117119	+	Silent	SNP	A	A	C			TCGA-J7-8537-01A-11D-2396-08	TCGA-J7-8537-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3cf4b130-0aa3-407e-9fea-bd8ddd8b7d5b	56af51d5-45a7-4a64-ba3e-f810d95407f8	g.chr4:104117119A>C	ENST00000265148.3	-	4	404	c.315T>G	c.(313-315)gtT>gtG	p.V105V	CENPE_ENST00000380026.3_Silent_p.V105V	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	105	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)|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)		CCCTGGGTATAACTCCCAAAT	0.358																																																0													106	101	103					4																	104117119		2202	4300	6502	SO:0001819	synonymous_variant	1062			Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"Kinesins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1856	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 61"	117143	"centromere protein E (312kD)"			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.315T>G	chr4.hg19:g.104117119A>C			A6NKY9|A8K2U7|Q4LE75	Silent	SNP	ENST00000265148.3	hg19	CCDS34042.1																																																																																				0.358	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				C	104117119	A	C	104117119	2	2	690	1	0	0	0	0	0	0	0	1	3232	349	13	5		5	CENPE	4	104117119	Silent	SNP	A	TCGA-J7-8537-01A-11D-2396-08		104117119	87037157	15	38154											
IL6ST	3572	hgsc.bcm.edu	37	5	55247844	55247844	+	Missense_Mutation	SNP	C	C	G			TCGA-J7-8537-01A-11D-2396-08	TCGA-J7-8537-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3cf4b130-0aa3-407e-9fea-bd8ddd8b7d5b	56af51d5-45a7-4a64-ba3e-f810d95407f8	g.chr5:55247844C>G	ENST00000381298.2	-	13	1924	c.1612G>C	c.(1612-1614)Gag>Cag	p.E538Q	IL6ST_ENST00000502326.3_Missense_Mutation_p.E538Q|IL6ST_ENST00000536319.1_3'UTR|IL6ST_ENST00000522633.2_3'UTR|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000336909.5_Missense_Mutation_p.E538Q|IL6ST_ENST00000381294.3_Missense_Mutation_p.E477Q|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	538	Fibronectin type-III 5. {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)				TGGTCCCACTCTAAGACAGCT	0.348			O		hepatocellular ca																																		Dom	yes		5	5q11	3572	"interleukin 6 signal transducer (gp130, oncostatin M receptor)"		E	0													75	64	68					5																	55247844		2203	4300	6503	SO:0001583	missense	3572			M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	6021	protein-coding gene	gene with protein product	"gp130, oncostatin M receptor"	600694	"interleukin 6 signal transducer (gp130, oncostatin M receptor)"			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.1612G>C	chr5.hg19:g.55247844C>G	ENSP00000370698:p.Glu538Gln		A0N0L4|Q5FC04|Q9UQ41	Missense_Mutation	SNP	ENST00000381298.2	hg19	CCDS3971.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.897415	0.33535	.	.	ENSG00000134352	ENST00000381298;ENST00000336909;ENST00000381294	T;T;T	0.57273	0.41;0.41;0.41	5.83	5.83	0.93111	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.455228	0.26089	N	0.026407	T	0.22085	0.0532	N	0.01352	-0.895	0.80722	D	1	B;B;B	0.18610	0.008;0.029;0.008	B;B;B	0.21151	0.011;0.033;0.011	T	0.29181	-1.0020	10	0.13853	T	0.58	.	9.4221	0.38557	0.0:0.7741:0.1461:0.0799	.	538;477;538	Q17RA0;Q5FC04;P40189	.;.;IL6RB_HUMAN	Q	538;538;477	ENSP00000370698:E538Q;ENSP00000338799:E538Q;ENSP00000370694:E477Q	ENSP00000338799:E538Q	E	-	1	0	IL6ST	55283601	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	0.907000	0.28531	2.770000	0.95276	0.655000	0.94253	GAG		0.348	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214146.3	NM_002184		G	55247844	C	G	55247844	3	3	690	1	0	0	0	0	1	0	0	0	7705	922	32	4	1164	4	IL6ST	5	55247844	Missense_Mutation	SNP	C	TCGA-J7-8537-01A-11D-2396-08		55247844	125667416	16	38155											
PCDHGA1	56114	hgsc.bcm.edu	37	5	140712677	140712677	+	Intron	SNP	A	A	G			TCGA-J7-8537-01A-11D-2396-08	TCGA-J7-8537-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3cf4b130-0aa3-407e-9fea-bd8ddd8b7d5b	56af51d5-45a7-4a64-ba3e-f810d95407f8	g.chr5:140712677A>G	ENST00000517417.1	+	1	2421				PCDHGA1_ENST00000378105.3_Missense_Mutation_p.N809S	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1						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)			TCTCAGGTAAACTTTTGTGAT	0.388																																																0													50	53	52					5																	140712677		2203	4300	6503	SO:0001627	intron_variant	56114			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.2421+5A>G	chr5.hg19:g.140712677A>G			Q2M273|Q9Y5D6	Missense_Mutation	SNP	ENST00000517417.1	hg19	CCDS54922.1	.	.	.	.	.	.	.	.	.	.	.	2.192	-0.385092	0.04966	.	.	ENSG00000204956	ENST00000378105	T	0.47869	0.83	4.15	0.129	0.14739	.	0.924660	0.08888	U	0.879068	T	0.21427	0.0516	N	0.08118	0	0.09310	N	0.999996	B	0.13145	0.007	B	0.09377	0.004	T	0.20174	-1.0283	9	.	.	.	.	2.5439	0.04732	0.462:0.0:0.194:0.344	.	809	Q9Y5H4-2	.	S	809	ENSP00000367345:N809S	.	N	+	2	0	PCDHGA1	140692861	0.001000	0.12720	0.351000	0.25721	0.671000	0.39405	-0.689000	0.05144	-0.058000	0.13177	-0.468000	0.05107	AAC		0.388	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		G	140712677	A	G	140712677	1	3	690	0	1	0	0	0	0	0	0	0	11552	43	2	3		3	PCDHGA1	5	140712677	Intron	SNP	A	TCGA-J7-8537-01A-11D-2396-08	85464833	140712677	40202583	17	38156											
CSF1R	1436	hgsc.bcm.edu	37	5	149433707	149433707	+	Missense_Mutation	SNP	A	A	T			TCGA-J7-8537-01A-11D-2396-08	TCGA-J7-8537-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3cf4b130-0aa3-407e-9fea-bd8ddd8b7d5b	56af51d5-45a7-4a64-ba3e-f810d95407f8	g.chr5:149433707A>T	ENST00000286301.3	-	22	3135	c.2844T>A	c.(2842-2844)agT>agA	p.S948R		NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	948					cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	TCAGGTGCTCACTAGAGCTCT	0.602																																																0													38	35	36					5																	149433707		2203	4300	6503	SO:0001583	missense	1436			U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	2433	protein-coding gene	gene with protein product		164770	"McDonough feline sarcoma viral (v-fms) oncogene homolog"	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.2844T>A	chr5.hg19:g.149433707A>T	ENSP00000286301:p.Ser948Arg		B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Missense_Mutation	SNP	ENST00000286301.3	hg19	CCDS4302.1	.	.	.	.	.	.	.	.	.	.	A	9.983	1.228611	0.22542	.	.	ENSG00000182578	ENST00000286301	T	0.30182	1.54	5.25	-4.77	0.03219	.	0.092077	0.47852	D	0.000212	T	0.23133	0.0559	L	0.50333	1.59	0.54753	D	0.999989	D	0.54397	0.966	B	0.44315	0.446	T	0.11792	-1.0573	10	0.51188	T	0.08	.	7.9653	0.30095	0.2777:0.0:0.6023:0.12	.	948	P07333	CSF1R_HUMAN	R	948	ENSP00000286301:S948R	ENSP00000286301:S948R	S	-	3	2	CSF1R	149413900	0.078000	0.21339	0.618000	0.29105	0.009000	0.06853	-0.609000	0.05635	-0.866000	0.04068	-0.490000	0.04691	AGT		0.602	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252329.2	NM_005211		T	149433707	A	T	149433707	3	4	690	1	0	0	0	0	1	0	0	0	3934	156	6	5	78	5	CSF1R	5	149433707	Missense_Mutation	SNP	A	TCGA-J7-8537-01A-11D-2396-08	8721030	149433707	31481553	18	38157											
ZNF184	7738	hgsc.bcm.edu	37	6	27420221	27420223	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-J7-8537-01A-11D-2396-08	TCGA-J7-8537-10A-01D-2396-08	TGG	TGG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3cf4b130-0aa3-407e-9fea-bd8ddd8b7d5b	56af51d5-45a7-4a64-ba3e-f810d95407f8	g.chr6:27420221_27420223delTGG	ENST00000211936.6	-	6	1399_1401	c.1115_1117delCCA	c.(1114-1119)accagg>agg	p.T372del	ZNF184_ENST00000377419.1_In_Frame_Del_p.T372del	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	372					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						TGTGTGCTCCTGGTGAAGGTTTT	0.379																																																0																																										SO:0001651	inframe_deletion	7738			U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"Zinc fingers, C2H2-type", "-"	12975	protein-coding gene	gene with protein product		602277	"zinc finger protein 184 (Kruppel-like)"				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.1115_1117delCCA	chr6.hg19:g.27420221_27420223delTGG	ENSP00000211936:p.Thr372del		B2R715|O60792|Q8TBA9	In_Frame_Del	DEL	ENST00000211936.6	hg19	CCDS4624.1																																																																																				0.379	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149		-	27420223	TGG	-	27420221	7	5	690	1	0	1	0	1	0	0	0	0	17756	1579	55	0	1142	0	ZNF184	6	27420221	In_Frame_Del	DEL	TGG	TCGA-J7-8537-01A-11D-2396-08		27420221	143694846	19	38158											
VARS	7407	hgsc.bcm.edu	37	6	31762754	31762754	+	Missense_Mutation	SNP	G	G	T			TCGA-J7-8537-01A-11D-2396-08	TCGA-J7-8537-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3cf4b130-0aa3-407e-9fea-bd8ddd8b7d5b	56af51d5-45a7-4a64-ba3e-f810d95407f8	g.chr6:31762754G>T	ENST00000375663.3	-	2	681	c.241C>A	c.(241-243)Cca>Aca	p.P81T	VARS_ENST00000444930.2_Intron|LSM2_ENST00000491421.1_5'Flank	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	81					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	AGGCCTGCTGGCCACAGCAGC	0.711																																																0													13	19	16					6																	31762754		1478	2637	4115	SO:0001583	missense	7407			BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"Aminoacyl tRNA synthetases / Class I"	12651	protein-coding gene	gene with protein product	"valine tRNA ligase 1, cytoplasmic"	192150	"valyl-tRNA synthetase 2"	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.241C>A	chr6.hg19:g.31762754G>T	ENSP00000364815:p.Pro81Thr		B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Missense_Mutation	SNP	ENST00000375663.3	hg19	CCDS34412.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.505254	0.44558	.	.	ENSG00000204394	ENST00000375663;ENST00000440048	T;T	0.06849	3.25;3.25	5.24	5.24	0.73138	Glutathione S-transferase, N-terminal (1);	0.142308	0.47455	D	0.000231	T	0.04003	0.0112	N	0.24115	0.695	0.80722	D	1	P	0.44139	0.827	P	0.45276	0.475	T	0.29366	-1.0014	10	0.87932	D	0	-2.2071	9.8609	0.41114	0.0931:0.0:0.9069:0.0	.	81	P26640	SYVC_HUMAN	T	81	ENSP00000364815:P81T;ENSP00000413925:P81T	ENSP00000364815:P81T	P	-	1	0	VARS	31870733	1.000000	0.71417	0.999000	0.59377	0.392000	0.30506	2.707000	0.47143	2.461000	0.83175	0.462000	0.41574	CCA		0.711	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2	NM_006295		T	31762754	G	T	31762754	3	4	690	1	0	0	0	0	1	0	0	0	17128	1203	42	4	3669	4	VARS	6	31762754	Missense_Mutation	SNP	G	TCGA-J7-8537-01A-11D-2396-08	4342533	31762754	139352313	20	38159											
AARS2	57505	hgsc.bcm.edu	37	6	44272835	44272835	+	Missense_Mutation	SNP	T	T	A			TCGA-J7-8537-01A-11D-2396-08	TCGA-J7-8537-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3cf4b130-0aa3-407e-9fea-bd8ddd8b7d5b	56af51d5-45a7-4a64-ba3e-f810d95407f8	g.chr6:44272835T>A	ENST00000244571.4	-	11	1537	c.1535A>T	c.(1534-1536)gAc>gTc	p.D512V	RP11-444E17.6_ENST00000505802.1_Intron|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)			CTTGGGGCTGTCGTCAGTTGG	0.607											OREG0017473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													128	121	123					6																	44272835		2203	4300	6503	SO:0001583	missense	57505			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.1535A>T	chr6.hg19:g.44272835T>A	ENSP00000244571:p.Asp512Val	922		Missense_Mutation	SNP	ENST00000244571.4	hg19	CCDS34464.1	.	.	.	.	.	.	.	.	.	.	T	13.94	2.385639	0.42308	.	.	ENSG00000124608	ENST00000244571	T	0.72725	-0.68	5.01	3.83	0.44106	Alanyl-tRNA synthetase, class IIc, anti-codon-binding domain (1);Alanyl-tRNA synthetase, class IIc, core domain (1);Alanyl-tRNA synthetase, class IIc, N-terminal (1);	0.096640	0.64402	D	0.000001	T	0.77478	0.4136	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79962	-0.1582	10	0.87932	D	0	-17.649	12.7414	0.57255	0.0:0.0715:0.0:0.9285	.	512	Q5JTZ9	SYAM_HUMAN	V	512	ENSP00000244571:D512V	ENSP00000244571:D512V	D	-	2	0	AARS2	44380813	1.000000	0.71417	0.925000	0.36789	0.052000	0.14988	5.622000	0.67750	0.272000	0.22027	-1.186000	0.01703	GAC		0.607	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040741.2	NM_020745		A	44272835	T	A	44272835	3	1	690	1	0	0	0	0	1	0	0	0	20	1667	58	5	1470	5	AARS2	6	44272835	Missense_Mutation	SNP	T	TCGA-J7-8537-01A-11D-2396-08	12510081	44272835	126842232	21	38160											
SAMD3	154075	hgsc.bcm.edu	37	6	130505262	130505262	+	Missense_Mutation	SNP	C	C	T			TCGA-J7-8537-01A-11D-2396-08	TCGA-J7-8537-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3cf4b130-0aa3-407e-9fea-bd8ddd8b7d5b	56af51d5-45a7-4a64-ba3e-f810d95407f8	g.chr6:130505262C>T	ENST00000368134.2	-	9	1248	c.640G>A	c.(640-642)Gat>Aat	p.D214N	SAMD3_ENST00000324172.6_Missense_Mutation_p.D214N|SAMD3_ENST00000437477.2_Missense_Mutation_p.D214N|SAMD3_ENST00000457563.2_Missense_Mutation_p.D238N|SAMD3_ENST00000439090.2_Missense_Mutation_p.D214N|SAMD3_ENST00000532763.1_Missense_Mutation_p.D212N|SAMD3_ENST00000533296.1_5'UTR	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	214										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)		CCACAGCCATCCTCATCCAGG	0.473																																																0													101	86	91					6																	130505262		2203	4300	6503	SO:0001583	missense	154075			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.640G>A	chr6.hg19:g.130505262C>T	ENSP00000357116:p.Asp214Asn		B4DY20|E1P576|J3KQK4|Q4VXD8|Q8NAY1|Q8NB96	Missense_Mutation	SNP	ENST00000368134.2	hg19	CCDS34539.1	.	.	.	.	.	.	.	.	.	.	C	17.32	3.359379	0.61403	.	.	ENSG00000164483	ENST00000368134;ENST00000457563;ENST00000439090;ENST00000437477;ENST00000532763;ENST00000324172	T;T;T;T;T;T	0.56444	0.88;0.87;0.88;0.88;0.8;0.46	5.53	4.66	0.58398	.	0.237830	0.36854	N	0.002379	T	0.34164	0.0888	M	0.73598	2.24	0.37596	D	0.920378	B;P;B;B	0.38788	0.256;0.647;0.068;0.098	B;B;B;B	0.31495	0.055;0.131;0.039;0.025	T	0.45086	-0.9285	10	0.66056	D	0.02	.	10.1892	0.43017	0.0:0.845:0.0:0.155	.	238;213;214;214	B4DY20;Q4VXD9;Q8N6K7-2;Q8N6K7	.;.;.;SAMD3_HUMAN	N	214;238;214;214;212;214	ENSP00000357116:D214N;ENSP00000402092:D238N;ENSP00000403565:D214N;ENSP00000391163:D214N;ENSP00000436088:D212N;ENSP00000324874:D214N	ENSP00000324874:D214N	D	-	1	0	SAMD3	130546955	0.996000	0.38824	0.997000	0.53966	0.991000	0.79684	2.562000	0.45914	1.300000	0.44818	0.655000	0.94253	GAT		0.473	SAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042197.3	NM_152552		T	130505262	C	T	130505262	3	4	690	1	0	0	0	0	1	0	0	0	13826	855	30	2	962	2	SAMD3	6	130505262	Missense_Mutation	SNP	C	TCGA-J7-8537-01A-11D-2396-08	86232427	130505262	40609805	22	38161											
PUS7	54517	hgsc.bcm.edu	37	7	105099624	105099624	+	Missense_Mutation	SNP	A	A	G			TCGA-J7-8537-01A-11D-2396-08	TCGA-J7-8537-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3cf4b130-0aa3-407e-9fea-bd8ddd8b7d5b	56af51d5-45a7-4a64-ba3e-f810d95407f8	g.chr7:105099624A>G	ENST00000356362.2	-	15	2054	c.1840T>C	c.(1840-1842)Ttt>Ctt	p.F614L	PUS7_ENST00000469408.1_Missense_Mutation_p.F614L	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 (putative)	614					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						CCAGAAGCAAAAACTGGTGGT	0.353																																					Colon(138;2387 3051 17860)											0													136	115	122					7																	105099624		2203	4300	6503	SO:0001583	missense	54517			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.1840T>C	chr7.hg19:g.105099624A>G	ENSP00000348722:p.Phe614Leu		Q75MG4|Q9NX19	Missense_Mutation	SNP	ENST00000356362.2	hg19	CCDS34725.1	.	.	.	.	.	.	.	.	.	.	A	10.52	1.372308	0.24857	.	.	ENSG00000091127	ENST00000356362;ENST00000544995;ENST00000469408	T;T	0.40756	1.02;1.02	5.28	5.28	0.74379	Pseudouridine synthase, catalytic domain (1);	0.171422	0.52532	N	0.000075	T	0.17831	0.0428	N	0.03608	-0.345	0.40339	D	0.979018	B;B	0.11235	0.004;0.004	B;B	0.14023	0.01;0.005	T	0.14699	-1.0463	10	0.10377	T	0.69	-1.6592	8.8965	0.35467	0.9072:0.0:0.0928:0.0	.	614;614	B3KY42;Q96PZ0	.;PUS7_HUMAN	L	614	ENSP00000348722:F614L;ENSP00000417402:F614L	ENSP00000348722:F614L	F	-	1	0	PUS7	104886860	1.000000	0.71417	0.993000	0.49108	0.860000	0.49131	5.995000	0.70631	1.995000	0.58328	0.460000	0.39030	TTT		0.353	PUS7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348681.1	NM_019042		G	105099624	A	G	105099624	3	3	690	1	0	0	0	0	1	0	0	0	12839	14	1	3	153	3	PUS7	7	105099624	Missense_Mutation	SNP	A	TCGA-J7-8537-01A-11D-2396-08		105099624	54039039	23	38162											
C8orf79	57604	hgsc.bcm.edu	37	8	12879058	12879058	+	Silent	SNP	T	T	C			TCGA-J7-8537-01A-11D-2396-08	TCGA-J7-8537-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3cf4b130-0aa3-407e-9fea-bd8ddd8b7d5b	56af51d5-45a7-4a64-ba3e-f810d95407f8	g.chr8:12879058T>C	ENST00000524591.2	+	5	1359	c.870T>C	c.(868-870)tcT>tcC	p.S290S	KIAA1456_ENST00000447063.2_Intron	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	Q9P272	K1456_HUMAN	KIAA1456	290							methyltransferase activity (GO:0008168)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						CCAGACACTCTAGTTTAGACT	0.423																																																0													79	77	78					8																	12879058		1869	4097	5966	SO:0001819	synonymous_variant	57604			BC035082	CCDS47808.1	8p22	2013-10-04	2011-02-23	2011-02-23	ENSG00000250305	ENSG00000250305			26725	protein-coding gene	gene with protein product		615666	"chromosome 8 open reading frame 79"	C8orf79		23381944	Standard	NM_020844		Approved	FLJ36980	uc010lsq.3	Q8N9K7	OTTHUMG00000165477	ENST00000524591.2:c.870T>C	chr8.hg19:g.12879058T>C			Q96AW6	Silent	SNP	ENST00000524591.2	hg19	CCDS47808.1																																																																																				0.423	KIAA1456-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383262.2	NM_001099677		C	12879058	T	C	12879058	2	2	690	1	0	0	0	0	0	0	0	1	2440	1509	53	3		3	C8orf79	8	12879058	Silent	SNP	T	TCGA-J7-8537-01A-11D-2396-08		12879058	133484964	24	38163											
ST8SIA6	338596	hgsc.bcm.edu	37	10	17495608	17495608	+	Silent	SNP	C	C	T			TCGA-J7-8537-01A-11D-2396-08	TCGA-J7-8537-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3cf4b130-0aa3-407e-9fea-bd8ddd8b7d5b	56af51d5-45a7-4a64-ba3e-f810d95407f8	g.chr10:17495608C>T	ENST00000377602.4	-	2	224	c.150G>A	c.(148-150)gcG>gcA	p.A50A		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	50					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						GCGTCCTCAGCGCTGCGGGGG	0.706																																																0													8	10	9					10																	17495608		2170	4271	6441	SO:0001819	synonymous_variant	338596				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.150G>A	chr10.hg19:g.17495608C>T			B0YJ97|B9EH72|Q5VZH4	Silent	SNP	ENST00000377602.4	hg19	CCDS31158.1																																																																																				0.706	ST8SIA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047036.1	NM_001004470		T	17495608	C	T	17495608	2	4	690	1	0	0	0	0	0	0	0	1	15241	755	27	1		1	ST8SIA6	10	17495608	Silent	SNP	C	TCGA-J7-8537-01A-11D-2396-08		17495608	118039139	25	38164											
MKI67	4288	hgsc.bcm.edu	37	10	129910454	129910454	+	Missense_Mutation	SNP	T	T	G			TCGA-J7-8537-01A-11D-2396-08	TCGA-J7-8537-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3cf4b130-0aa3-407e-9fea-bd8ddd8b7d5b	56af51d5-45a7-4a64-ba3e-f810d95407f8	g.chr10:129910454T>G	ENST00000368654.3	-	9	2287	c.1912A>C	c.(1912-1914)Att>Ctt	p.I638L	MKI67_ENST00000484853.1_5'UTR|MKI67_ENST00000368653.3_Missense_Mutation_p.I278L	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	638					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)				ATCTGTAAAATATCATGTTGA	0.398																																																0													96	89	91					10																	129910454		2203	4300	6503	SO:0001583	missense	4288			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.1912A>C	chr10.hg19:g.129910454T>G	ENSP00000357643:p.Ile638Leu		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	hg19	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	T	15.38	2.815996	0.50527	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609;ENST00000368652	T;T	0.01369	5.0;4.97	4.47	2.03	0.26663	.	0.382408	0.22081	N	0.064888	T	0.01765	0.0056	M	0.63428	1.95	0.09310	N	1	B;B;B	0.32573	0.376;0.376;0.259	B;B;B	0.36418	0.224;0.224;0.112	T	0.42137	-0.9469	10	0.35671	T	0.21	.	0.8729	0.01218	0.167:0.161:0.1731:0.4989	.	637;278;638	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	L	638;278;637;213	ENSP00000357643:I638L;ENSP00000357642:I278L	ENSP00000357641:I213L	I	-	1	0	MKI67	129800444	0.000000	0.05858	0.002000	0.10522	0.491000	0.33493	-0.129000	0.10515	0.725000	0.32318	0.533000	0.62120	ATT		0.398	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		G	129910454	T	G	129910454	3	3	690	1	0	0	0	0	1	0	0	0	9600	1406	49	5	7886	5	MKI67	10	129910454	Missense_Mutation	SNP	T	TCGA-J7-8537-01A-11D-2396-08	112414846	129910454	5624293	26	38165											
TSG101	7251	hgsc.bcm.edu	37	11	18541141	18541142	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-J7-8537-01A-11D-2396-08	TCGA-J7-8537-10A-01D-2396-08	TG	TG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3cf4b130-0aa3-407e-9fea-bd8ddd8b7d5b	56af51d5-45a7-4a64-ba3e-f810d95407f8	g.chr11:18541141_18541142delTG	ENST00000251968.3	-	2	466_467	c.51_52delCA	c.(49-54)tacagafs	p.YR17fs	TSG101_ENST00000536719.1_Frame_Shift_Del_p.YR17fs|TSG101_ENST00000357193.3_Intron	NM_006292.3	NP_006283.1	Q99816	TS101_HUMAN	tumor susceptibility 101	17	UEV. {ECO:0000255|PROSITE- ProRule:PRU00652}.				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						GTTAGGTCTCTGTATTTGTACT	0.307																																					GBM(99;1348 1396 8611 26475 50572)											0																																										SO:0001589	frameshift_variant	7251			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.51_52delCA	chr11.hg19:g.18541141_18541142delTG	ENSP00000251968:p.Tyr17fs		Q9BUM5	Frame_Shift_Del	DEL	ENST00000251968.3	hg19	CCDS7842.1																																																																																				0.307	TSG101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395906.1	NM_006292		-	18541142	TG	-	18541141	7	5	690	1	0	1	0	1	0	0	0	0	16621	1588	55	0	1156	0	TSG101	11	18541141	Frame_Shift_Del	DEL	TG	TCGA-J7-8537-01A-11D-2396-08		18541141	116465375	27	38166											
ANAPC5	51433	hgsc.bcm.edu	37	12	121766167	121766168	+	Missense_Mutation	DNP	TC	TC	CA			TCGA-J7-8537-01A-11D-2396-08	TCGA-J7-8537-10A-01D-2396-08	T|C	T|C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3cf4b130-0aa3-407e-9fea-bd8ddd8b7d5b	56af51d5-45a7-4a64-ba3e-f810d95407f8	g.chr12:121766167_121766168TC>CA	ENST00000261819.3	-	10	1376_1377	c.1255_1256GA>TG	c.(1255-1257)GAt>TGt	p.D419C	ANAPC5_ENST00000441917.2_Missense_Mutation_p.D307C|ANAPC5_ENST00000541887.1_Missense_Mutation_p.D406C|ANAPC5_ENST00000535482.1_Missense_Mutation_p.D85C|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000344395.4_Missense_Mutation_p.D307C	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	419					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)					GATGCTGATATCGATGAGCTCT	0.545																																																0																																										SO:0001583	missense	51433			AF191339	CCDS9220.1, CCDS45000.1	12q24.31	2014-08-12			ENSG00000089053	ENSG00000089053		"Anaphase promoting complex subunits"	15713	protein-coding gene	gene with protein product		606948				9469815	Standard	NM_016237		Approved	APC5	uc001uag.3	Q9UJX4	OTTHUMG00000169157	ENST00000261819.3:c.1255_1256delinsCA	chr12.hg19:g.121766167_121766168delinsCA	ENSP00000261819:p.Asp419Cys		E9PFB2|Q8N4H7|Q9BQD4	Missense_Mutation	SNP	ENST00000261819.3	hg19	CCDS9220.1																																																																																				0.545	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402582.1			CA	121766168	TC	CA	121766167	3	2	690	1	0	0	0	0	1	0	0	0	605	1435	50	3	1043	3	ANAPC5	12	121766167	Missense_Mutation	DNP	TC	TCGA-J7-8537-01A-11D-2396-08		121766167	12085728	28	38167											
MCF2L	23263	hgsc.bcm.edu	37	13	113741757	113741757	+	Missense_Mutation	SNP	A	A	G			TCGA-J7-8537-01A-11D-2396-08	TCGA-J7-8537-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3cf4b130-0aa3-407e-9fea-bd8ddd8b7d5b	56af51d5-45a7-4a64-ba3e-f810d95407f8	g.chr13:113741757A>G	ENST00000375608.3	+	23	2730	c.2672A>G	c.(2671-2673)aAg>aGg	p.K891R	MCF2L_ENST00000375597.4_Missense_Mutation_p.K859R|MCF2L_ENST00000421756.1_Missense_Mutation_p.K865R|MCF2L_ENST00000397030.1_Missense_Mutation_p.K894R|MCF2L_ENST00000375604.2_Missense_Mutation_p.K918R|MCF2L_ENST00000442652.2_Missense_Mutation_p.K891R|MCF2L_ENST00000423482.2_Missense_Mutation_p.K859R|MCF2L_ENST00000535094.2_Missense_Mutation_p.K861R|MCF2L_ENST00000375601.3_Missense_Mutation_p.K865R|MCF2L_ENST00000434480.2_Missense_Mutation_p.K867R			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	891	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)				TACAGCTACAAGCAGTCCTTA	0.592																																																0													45	39	41					13																	113741757		2202	4299	6501	SO:0001583	missense	23263			AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.2672A>G	chr13.hg19:g.113741757A>G	ENSP00000364758:p.Lys891Arg		A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Missense_Mutation	SNP	ENST00000375608.3	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.93|19.93	3.918654|3.918654	0.73098|0.73098	.|.	.|.	ENSG00000126217|ENSG00000126217	ENST00000375608;ENST00000442652;ENST00000375604;ENST00000397030;ENST00000535094;ENST00000421756;ENST00000375601;ENST00000434480;ENST00000423482;ENST00000375597;ENST00000440749|ENST00000413354;ENST00000261963	T;T;T;T;T;T;T;T;T;T|.	0.21543|.	2.0;2.0;2.0;2.0;2.0;2.0;2.0;2.0;2.0;2.0|.	5.08|5.08	5.08|5.08	0.68730|0.68730	Pleckstrin homology-type (1);Pleckstrin homology domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84678|0.84678	0.5525|0.5525	M|M	0.92367|0.92367	3.3|3.3	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;0.999;1.0|.	D;D;D;D;D|.	0.91635|.	0.998;0.998;0.998;0.996;0.999|.	D|D	0.88684|0.88684	0.3204|0.3204	10|5	0.87932|.	D|.	0|.	.|.	14.8626|14.8626	0.70392|0.70392	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	859;861;918;859;891|.	E9PDN8;O15068-9;G5E9A1;O15068-4;O15068|.	.;.;.;.;MCF2L_HUMAN|.	R|G	891;891;918;894;861;865;865;867;859;859;702|91;32	ENSP00000364758:K891R;ENSP00000401422:K891R;ENSP00000364754:K918R;ENSP00000380225:K894R;ENSP00000440374:K861R;ENSP00000397285:K865R;ENSP00000364751:K865R;ENSP00000407722:K867R;ENSP00000405639:K859R;ENSP00000364747:K859R|.	ENSP00000364747:K859R|.	K|S	+|+	2|1	0|0	MCF2L|MCF2L	112789758|112789758	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.524000|0.524000	0.34500|0.34500	9.084000|9.084000	0.94076|0.94076	1.902000|1.902000	0.55061|0.55061	0.533000|0.533000	0.62120|0.62120	AAG|AGC		0.592	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4			G	113741757	A	G	113741757	3	3	690	1	0	0	0	0	1	0	0	0	9381	72	3	3	2934	3	MCF2L	13	113741757	Missense_Mutation	SNP	A	TCGA-J7-8537-01A-11D-2396-08		113741757	1428121	29	38168											
HSPA2	3306	hgsc.bcm.edu	37	14	65009419	65009419	+	Missense_Mutation	SNP	C	C	A			TCGA-J7-8537-01A-11D-2396-08	TCGA-J7-8537-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3cf4b130-0aa3-407e-9fea-bd8ddd8b7d5b	56af51d5-45a7-4a64-ba3e-f810d95407f8	g.chr14:65009419C>A	ENST00000394709.1	+	2	1928	c.1852C>A	c.(1852-1854)Cct>Act	p.P618T	HSPA2_ENST00000247207.6_Missense_Mutation_p.P618T|RP11-973N13.4_ENST00000554918.1_RNA			P54652	HSP72_HUMAN	heat shock 70kDa protein 2	618					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)		CCAAGGTGGTCCTggcggcgg	0.552																																					Pancreas(136;1211 1835 24894 31984 38227)											0													48	50	50					14																	65009419		2203	4300	6503	SO:0001583	missense	3306			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.1852C>A	chr14.hg19:g.65009419C>A	ENSP00000378199:p.Pro618Thr		Q15508|Q53XM3|Q9UE78	Missense_Mutation	SNP	ENST00000394709.1	hg19	CCDS9766.1	.	.	.	.	.	.	.	.	.	.	C	3.079	-0.189353	0.06299	.	.	ENSG00000126803	ENST00000394709;ENST00000247207;ENST00000545222	T;T	0.13538	2.58;2.58	5.43	2.55	0.30701	.	1.329050	0.05831	U	0.617584	T	0.08447	0.0210	N	0.11201	0.11	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40365	-0.9567	10	0.29301	T	0.29	0.1445	7.9468	0.29991	0.0:0.6354:0.2799:0.0847	.	618	P54652	HSP72_HUMAN	T	618;618;392	ENSP00000378199:P618T;ENSP00000247207:P618T	ENSP00000247207:P618T	P	+	1	0	HSPA2	64079172	1.000000	0.71417	0.954000	0.39281	0.732000	0.41865	2.213000	0.42844	0.254000	0.21573	-0.230000	0.12252	CCT		0.552	HSPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280651.1			A	65009419	C	A	65009419	3	1	690	1	0	0	0	0	1	0	0	0	7413	855	30	4	1854	4	HSPA2	14	65009419	Missense_Mutation	SNP	C	TCGA-J7-8537-01A-11D-2396-08		65009419	42340121	30	38169											
EIF2AK4	440275	hgsc.bcm.edu	37	15	40324962	40324962	+	Missense_Mutation	SNP	A	A	G			TCGA-J7-8537-01A-11D-2396-08	TCGA-J7-8537-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3cf4b130-0aa3-407e-9fea-bd8ddd8b7d5b	56af51d5-45a7-4a64-ba3e-f810d95407f8	g.chr15:40324962A>G	ENST00000263791.5	+	37	4776	c.4733A>G	c.(4732-4734)gAt>gGt	p.D1578G	EIF2AK4_ENST00000382727.2_Missense_Mutation_p.D1550G	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	1578					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)		TCACAGGTGGATCTACCCAAA	0.388																																																0													110	106	107					15																	40324962		1929	4132	6061	SO:0001583	missense	440275			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.4733A>G	chr15.hg19:g.40324962A>G	ENSP00000263791:p.Asp1578Gly		C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Missense_Mutation	SNP	ENST00000263791.5	hg19	CCDS42016.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.042322	0.75732	.	.	ENSG00000128829	ENST00000263791;ENST00000382727	T;T	0.61742	0.08;0.08	5.89	5.89	0.94794	Serine/threonine-protein kinase GCN2, anticodon binding domain (1);	0.000000	0.85682	D	0.000000	T	0.65238	0.2672	N	0.24115	0.695	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.69577	-0.5108	10	0.72032	D	0.01	-24.8288	15.9741	0.80044	1.0:0.0:0.0:0.0	.	1550;1578	Q9P2K8-2;Q9P2K8	.;E2AK4_HUMAN	G	1578;1550	ENSP00000263791:D1578G;ENSP00000372174:D1550G	ENSP00000263791:D1578G	D	+	2	0	EIF2AK4	38112254	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	5.973000	0.70456	2.246000	0.74042	0.533000	0.62120	GAT		0.388	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1			G	40324962	A	G	40324962	3	3	690	1	0	0	0	0	1	0	0	0	5001	333	12	3	4879	3	EIF2AK4	15	40324962	Missense_Mutation	SNP	A	TCGA-J7-8537-01A-11D-2396-08		40324962	62206430	31	38170											
TMC7	79905	hgsc.bcm.edu	37	16	19051691	19051691	+	Silent	SNP	C	C	A			TCGA-J7-8537-01A-11D-2396-08	TCGA-J7-8537-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3cf4b130-0aa3-407e-9fea-bd8ddd8b7d5b	56af51d5-45a7-4a64-ba3e-f810d95407f8	g.chr16:19051691C>A	ENST00000304381.5	+	9	1390	c.1260C>A	c.(1258-1260)atC>atA	p.I420I	TMC7_ENST00000569532.1_Silent_p.I420I|TMC7_ENST00000421369.3_Silent_p.I310I	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	420					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						CCAATTTTATCACCCCAATGA	0.418																																																0													142	121	128					16																	19051691		2197	4300	6497	SO:0001819	synonymous_variant	79905			AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.1260C>A	chr16.hg19:g.19051691C>A			E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Silent	SNP	ENST00000304381.5	hg19	CCDS10573.1																																																																																				0.418	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254276.3	NM_024847		A	19051691	C	A	19051691	2	1	690	1	0	0	0	0	0	0	0	1	15995	816	29	4		4	TMC7	16	19051691	Silent	SNP	C	TCGA-J7-8537-01A-11D-2396-08		19051691	71303062	32	38171											
NETO2	81831	hgsc.bcm.edu	37	16	47117430	47117430	+	Missense_Mutation	SNP	C	C	T	rs372424394		TCGA-J7-8537-01A-11D-2396-08	TCGA-J7-8537-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3cf4b130-0aa3-407e-9fea-bd8ddd8b7d5b	56af51d5-45a7-4a64-ba3e-f810d95407f8	g.chr16:47117430C>T	ENST00000562435.1	-	9	1664	c.1280G>A	c.(1279-1281)cGc>cAc	p.R427H	NETO2_ENST00000303155.5_Missense_Mutation_p.R420H	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2	427					regulation of kainate selective glutamate receptor activity (GO:2000312)	kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)				breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				GGTGGAGGAGCGCCGCATCTT	0.537										HNSCC(25;0.065)			C|||	1	0.000199681	0.0	0.0014	5008	,	,		16407	0.0		0.0	False		,,,				2504	0.0															0								C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	92	85	87		1280,1259	3.8	1	16		87	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	NETO2	NM_018092.4,NM_001201477.1	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	427/526,420/519	47117430	1,13005	2203	4300	6503	SO:0001583	missense	81831			AK001292	CCDS10727.1, CCDS58460.1	16q11.2	2008-08-04			ENSG00000171208	ENSG00000171208			14644	protein-coding gene	gene with protein product		607974				11943477	Standard	NM_018092		Approved	FLJ10430, NEOT2	uc002eer.2	Q8NC67	OTTHUMG00000133101	ENST00000562435.1:c.1280G>A	chr16.hg19:g.47117430C>T	ENSP00000455169:p.Arg427His		J3KNF1|Q7Z381|Q8ND51|Q96SP4|Q9NVY8	Missense_Mutation	SNP	ENST00000562435.1	hg19	CCDS10727.1	.	.	.	.	.	.	.	.	.	.	C	18.06	3.539890	0.65085	0.0	1.16E-4	ENSG00000171208	ENST00000303155	.	.	.	5.78	3.83	0.44106	.	0.048904	0.85682	N	0.000000	T	0.48677	0.1513	L	0.52126	1.63	0.53005	D	0.999961	P;B;B	0.37914	0.611;0.244;0.357	B;B;B	0.32022	0.139;0.033;0.072	T	0.51268	-0.8727	9	0.66056	D	0.02	.	12.2767	0.54739	0.0:0.8634:0.0:0.1366	.	284;427;103	B7Z4I7;Q8NC67;Q8NC67-2	.;NETO2_HUMAN;.	H	427	.	ENSP00000306726:R427H	R	-	2	0	NETO2	45674931	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	4.088000	0.57678	0.801000	0.34066	0.655000	0.94253	CGC		0.537	NETO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256766.2	NM_018092		T	47117430	C	T	47117430	3	4	690	1	0	0	0	0	1	0	0	0	10342	768	27	1	301	1	NETO2	16	47117430	Missense_Mutation	SNP	C	TCGA-J7-8537-01A-11D-2396-08	28065739	47117430	43237323	33	38172											
EIF4A1	1973	hgsc.bcm.edu	37	17	7478578	7478578	+	Splice_Site	SNP	T	T	G			TCGA-J7-8537-01A-11D-2396-08	TCGA-J7-8537-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3cf4b130-0aa3-407e-9fea-bd8ddd8b7d5b	56af51d5-45a7-4a64-ba3e-f810d95407f8	g.chr17:7478578T>G	ENST00000293831.8	+	4	361		c.e4+2		SNORA48_ENST00000386847.1_RNA|EIF4A1_ENST00000582746.1_Splice_Site|SNORD10_ENST00000459579.1_RNA|SNORA67_ENST00000384423.1_RNA|EIF4A1_ENST00000577269.1_Splice_Site|SENP3-EIF4A1_ENST00000579777.1_RNA|EIF4A1_ENST00000380512.5_Missense_Mutation_p.V100G	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1						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						GCTCAGCAGGTAAGAGTGGCT	0.488																																					Melanoma(120;278 1668 15796 27423 46368)											0													73	70	71					17																	7478578		2203	4300	6503	SO:0001630	splice_region_variant	1973			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.345+2T>G	chr17.hg19:g.7478578T>G			B2R6L8|D3DTP9|J3QLC4|P04765|Q5U018|Q61516	Splice_Site	SNP	ENST00000293831.8	hg19	CCDS11113.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.7|20.7	4.031827|4.031827	0.75504|0.75504	.|.	.|.	ENSG00000161960|ENSG00000161960	ENST00000293831|ENST00000380512	.|T	.|0.17213	.|2.29	5.43|5.43	5.43|5.43	0.79202|0.79202	.|.	.|.	.|.	.|.	.|.	.|T	.|0.29749	.|0.0743	.|.	.|.	.|.	0.48511|0.48511	D|D	0.999669|0.999669	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.01195	.|-1.1422	.|5	.|.	.|.	.|.	.|.	13.4334|13.4334	0.61068|0.61068	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|.	.|.	.|.	.|G	-1|100	.|ENSP00000369881:V100G	.|.	.|V	+|+	.|2	.|0	EIF4A1|EIF4A1	7419302|7419302	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.957000|0.957000	0.61999|0.61999	7.698000|7.698000	0.84413|0.84413	2.077000|2.077000	0.62373|0.62373	0.459000|0.459000	0.35465|0.35465	.|GTA		0.488	EIF4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226952.6	NM_001416	Intron	G	7478578	T	G	7478578	5	3	690	1	0	0	0	0	0	0	1	0	5026	1652	57	5	361	5	EIF4A1	17	7478578	Splice_Site	SNP	T	TCGA-J7-8537-01A-11D-2396-08		7478578	73716632	34	38173											
MED24	9862	hgsc.bcm.edu	37	17	38187790	38187790	+	Splice_Site	SNP	C	C	G			TCGA-J7-8537-01A-11D-2396-08	TCGA-J7-8537-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3cf4b130-0aa3-407e-9fea-bd8ddd8b7d5b	56af51d5-45a7-4a64-ba3e-f810d95407f8	g.chr17:38187790C>G	ENST00000394128.2	-	11	1149		c.e11+1		MED24_ENST00000479829.1_5'Flank|MED24_ENST00000501516.3_Splice_Site|MED24_ENST00000394127.2_Splice_Site|MED24_ENST00000394126.1_Splice_Site|MED24_ENST00000356271.3_Splice_Site	NM_014815.3	NP_055630.2	O75448	MED24_HUMAN	mediator complex subunit 24						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)					GGAGCTCATACTTGCAGCGCT	0.557																																																0													84	82	82					17																	38187790		2203	4300	6503	SO:0001630	splice_region_variant	9862			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.1067+1G>C	chr17.hg19:g.38187790C>G			A8K4S5|B3KMR9|Q14143|Q9NNY5	Splice_Site	SNP	ENST00000394128.2	hg19	CCDS11359.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.948640	0.73787	.	.	ENSG00000008838	ENST00000394126;ENST00000356271;ENST00000394128;ENST00000535071;ENST00000394127;ENST00000536318;ENST00000431269	.	.	.	4.56	4.56	0.56223	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4676	0.87638	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MED24	35441316	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	3.743000	0.55104	2.533000	0.85409	0.561000	0.74099	.		0.557	MED24-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257147.2	NM_014815	Intron	G	38187790	C	G	38187790	5	3	690	1	0	0	0	0	0	0	1	0	9444	579	20	4	1965	4	MED24	17	38187790	Splice_Site	SNP	C	TCGA-J7-8537-01A-11D-2396-08	30709212	38187790	43007420	35	38174											
NPEPPS	9520	hgsc.bcm.edu	37	17	45669357	45669357	+	Silent	SNP	A	A	T			TCGA-J7-8537-01A-11D-2396-08	TCGA-J7-8537-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3cf4b130-0aa3-407e-9fea-bd8ddd8b7d5b	56af51d5-45a7-4a64-ba3e-f810d95407f8	g.chr17:45669357A>T	ENST00000322157.4	+	11	1533	c.1296A>T	c.(1294-1296)atA>atT	p.I432I	NPEPPS_ENST00000530173.1_Silent_p.I428I|NPEPPS_ENST00000525037.1_3'UTR|NPEPPS_ENST00000544660.1_Silent_p.I352I	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	432					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular response to hypoxia (GO:0071456)|protein polyubiquitination (GO:0000209)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						TTGATGAGATATTTGATGCTA	0.383																																																0													123	78	93					17																	45669357		2021	4151	6172	SO:0001819	synonymous_variant	9520			Y07701	CCDS45721.1	17q12-q21	2008-07-18			ENSG00000141279	ENSG00000141279	3.4.11.2		7900	protein-coding gene	gene with protein product	"puromycin-sensitive aminopeptidase", "metalloproteinase MP100"	606793				9048733, 10329370	Standard	NM_006310		Approved	PSA, MP100	uc002ilr.4	P55786	OTTHUMG00000165471	ENST00000322157.4:c.1296A>T	chr17.hg19:g.45669357A>T			B7Z463|Q6P145|Q9NP16|Q9UEM2	Silent	SNP	ENST00000322157.4	hg19	CCDS45721.1																																																																																				0.383	NPEPPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384269.1	NM_006310		T	45669357	A	T	45669357	2	4	690	1	0	0	0	0	0	0	0	1	10577	439	16	5		5	NPEPPS	17	45669357	Silent	SNP	A	TCGA-J7-8537-01A-11D-2396-08	7481567	45669357	35525853	36	38175											
CCDC45	90799	hgsc.bcm.edu	37	17	62532827	62532827	+	Missense_Mutation	SNP	G	G	C			TCGA-J7-8537-01A-11D-2396-08	TCGA-J7-8537-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3cf4b130-0aa3-407e-9fea-bd8ddd8b7d5b	56af51d5-45a7-4a64-ba3e-f810d95407f8	g.chr17:62532827G>C	ENST00000556440.2	+	18	2688	c.2178G>C	c.(2176-2178)caG>caC	p.Q726H	CEP95_ENST00000553412.1_Missense_Mutation_p.Q562H	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN	centrosomal protein 95kDa	726						centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)				endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						GACGCCACCAGGATGAACTGG	0.458																																																0													78	82	81					17																	62532827		2022	4184	6206	SO:0001583	missense	90799			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.2178G>C	chr17.hg19:g.62532827G>C	ENSP00000450461:p.Gln726His		B4DMD2|Q96M81	Missense_Mutation	SNP	ENST00000556440.2	hg19	CCDS45763.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.146995	0.57151	.	.	ENSG00000258890	ENST00000553956;ENST00000556440;ENST00000553412	T;T	0.37411	1.25;1.2	5.48	3.5	0.40072	.	0.125921	0.53938	D	0.000047	T	0.51839	0.1698	L	0.59436	1.845	0.35792	D	0.822454	D	0.89917	1.0	D	0.73380	0.98	T	0.61964	-0.6954	10	0.72032	D	0.01	-13.7497	9.6268	0.39754	0.275:0.0:0.725:0.0	.	726	Q96GE4	CEP95_HUMAN	H	661;726;562	ENSP00000450461:Q726H;ENSP00000450906:Q562H	ENSP00000438458:Q661H	Q	+	3	2	CEP95	59963289	1.000000	0.71417	1.000000	0.80357	0.728000	0.41692	0.926000	0.28804	0.805000	0.34159	0.650000	0.86243	CAG		0.458	CEP95-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445100.2	NM_138363		C	62532827	G	C	62532827	3	2	690	1	0	0	0	0	1	0	0	0	2818	991	35	4	2248	4	CCDC45	17	62532827	Missense_Mutation	SNP	G	TCGA-J7-8537-01A-11D-2396-08	16863470	62532827	18662383	37	38176											
ZNF419	79744	hgsc.bcm.edu	37	19	58005060	58005060	+	Missense_Mutation	SNP	T	T	G			TCGA-J7-8537-01A-11D-2396-08	TCGA-J7-8537-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3cf4b130-0aa3-407e-9fea-bd8ddd8b7d5b	56af51d5-45a7-4a64-ba3e-f810d95407f8	g.chr19:58005060T>G	ENST00000221735.7	+	5	1321	c.1135T>G	c.(1135-1137)Ttt>Gtt	p.F379V	ZNF419_ENST00000424930.2_Missense_Mutation_p.F380V|ZNF419_ENST00000426954.2_Missense_Mutation_p.F367V|ZNF419_ENST00000347466.6_Missense_Mutation_p.F347V|ZNF419_ENST00000354197.4_Missense_Mutation_p.F367V|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000415379.2_Missense_Mutation_p.F333V|ZNF419_ENST00000442920.2_Missense_Mutation_p.F366V			Q96HQ0	ZN419_HUMAN	zinc finger protein 419	379					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		CTGTGGGAAATTTTTTACCCA	0.408																																																0													81	85	84					19																	58005060		2200	4297	6497	SO:0001583	missense	79744			AK026886	CCDS42637.1, CCDS46211.1, CCDS54325.1, CCDS54326.1, CCDS54327.1, CCDS54328.1	19q13.43	2013-01-08	2006-12-15	2006-12-15	ENSG00000105136	ENSG00000105136		"Zinc fingers, C2H2-type", "-"	20648	protein-coding gene	gene with protein product			"zinc finger protein 419A"	ZNF419A			Standard	NM_001098492		Approved		uc010ety.1	Q96HQ0	OTTHUMG00000037073	ENST00000221735.7:c.1135T>G	chr19.hg19:g.58005060T>G	ENSP00000221735:p.Phe379Val		B4DXU7|B4E348|B7ZA41|E9PCP4|E9PED0|E9PET3|E9PFX9|Q9H5P0	Missense_Mutation	SNP	ENST00000221735.7	hg19	CCDS54326.1	.	.	.	.	.	.	.	.	.	.	T	10.63	1.405079	0.25378	.	.	ENSG00000105136	ENST00000284020;ENST00000424930;ENST00000426954;ENST00000354197;ENST00000442920;ENST00000517598;ENST00000347466;ENST00000415379;ENST00000221735	T;T;T;T;T;T;T	0.16743	3.25;3.25;3.25;3.25;3.25;2.32;3.25	2.26	1.16	0.20824	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14614	0.0353	N	0.02539	-0.55	0.23454	N	0.997643	D;D;D;D;B;D;B	0.69078	0.985;0.991;0.997;0.991;0.292;0.996;0.292	D;D;D;D;B;D;B	0.79108	0.966;0.982;0.992;0.988;0.071;0.986;0.071	T	0.25222	-1.0138	9	0.38643	T	0.18	.	7.3178	0.26511	0.0:0.0:0.2246:0.7754	.	333;333;366;367;380;347;379	E9PFX9;B4DXU7;E9PCP4;E9PET3;E9PED0;Q96HQ0-2;Q96HQ0	.;.;.;.;.;.;ZN419_HUMAN	V	354;380;367;367;366;380;347;333;379	ENSP00000388864:F380V;ENSP00000390916:F367V;ENSP00000346136:F367V;ENSP00000414709:F366V;ENSP00000299860:F347V;ENSP00000392129:F333V;ENSP00000221735:F379V	ENSP00000221735:F379V	F	+	1	0	ZNF419	62696872	0.000000	0.05858	0.044000	0.18714	0.111000	0.19643	-1.253000	0.02877	0.101000	0.17610	0.260000	0.18958	TTT		0.408	ZNF419-006	KNOWN	NAGNAG_splice_site|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378506.1	NM_024691		G	58005060	T	G	58005060	3	3	690	1	0	0	0	0	1	0	0	0	17901	1493	52	5	1156	5	ZNF419	19	58005060	Missense_Mutation	SNP	T	TCGA-J7-8537-01A-11D-2396-08		58005060	1123923	38	38177											
C20orf7	79133	hgsc.bcm.edu	37	20	13775537	13775537	+	Missense_Mutation	SNP	A	A	T			TCGA-J7-8537-01A-11D-2396-08	TCGA-J7-8537-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3cf4b130-0aa3-407e-9fea-bd8ddd8b7d5b	56af51d5-45a7-4a64-ba3e-f810d95407f8	g.chr20:13775537A>T	ENST00000378106.5	+	5	548	c.429A>T	c.(427-429)gaA>gaT	p.E143D	NDUFAF5_ENST00000463598.1_Intron|NDUFAF5_ENST00000475968.1_Intron	NM_024120.4	NP_077025.2	Q5TEU4	NDUF5_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 5	143					mitochondrial respiratory chain complex I assembly (GO:0032981)	extrinsic component of mitochondrial inner membrane (GO:0031314)	methyltransferase activity (GO:0008168)										CTGATGAAGAATTCCTTCCCT	0.318																																																0													105	105	105					20																	13775537		2203	4300	6503	SO:0001583	missense	79133				CCDS13118.1, CCDS33441.1	20p12.1	2012-10-12	2012-05-08	2012-05-08	ENSG00000101247	ENSG00000101247		"Mitochondrial respiratory chain complex assembly factors"	15899	protein-coding gene	gene with protein product		612360	"chromosome 20 open reading frame 7"	C20orf7		18940309, 21607760	Standard	NM_024120		Approved	dJ842G6.1	uc002wom.3	Q5TEU4	OTTHUMG00000031909	ENST00000378106.5:c.429A>T	chr20.hg19:g.13775537A>T	ENSP00000367346:p.Glu143Asp		A8K166|Q6GPH3|Q9H6F4	Missense_Mutation	SNP	ENST00000378106.5	hg19	CCDS13118.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.282700	0.80692	.	.	ENSG00000101247	ENST00000378106;ENST00000536501	D	0.85484	-1.99	5.93	2.37	0.29283	Methyltransferase type 11 (1);	0.000000	0.85682	D	0.000000	D	0.88362	0.6416	L	0.49513	1.565	0.80722	D	1	D;D	0.89917	1.0;0.985	D;D	0.81914	0.995;0.951	D	0.86347	0.1708	10	0.72032	D	0.01	-15.2415	9.9234	0.41478	0.7238:0.0:0.2762:0.0	.	143;143	Q5TEU4;B3KR61	CT007_HUMAN;.	D	143	ENSP00000367346:E143D	ENSP00000437325:E143D	E	+	3	2	C20orf7	13723537	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	2.111000	0.41883	0.126000	0.18424	-0.408000	0.06270	GAA		0.318	NDUFAF5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078057.2	NM_001039375		T	13775537	A	T	13775537	3	4	690	1	0	0	0	0	1	0	0	0	2117	98	4	5	467	5	C20orf7	20	13775537	Missense_Mutation	SNP	A	TCGA-J7-8537-01A-11D-2396-08		13775537	49249983	39	38178											
GART	2618	hgsc.bcm.edu	37	21	34904710	34904710	+	Missense_Mutation	SNP	C	C	T			TCGA-J7-8537-01A-11D-2396-08	TCGA-J7-8537-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3cf4b130-0aa3-407e-9fea-bd8ddd8b7d5b	56af51d5-45a7-4a64-ba3e-f810d95407f8	g.chr21:34904710C>T	ENST00000381831.3	-	5	732	c.469G>A	c.(469-471)Ggg>Agg	p.G157R	GART_ENST00000381815.4_Missense_Mutation_p.G157R|GART_ENST00000381839.3_Missense_Mutation_p.G157R|GART_ENST00000361093.5_Missense_Mutation_p.G157R|GART_ENST00000497313.1_5'UTR	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	157	ATP-grasp.				'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|glycine metabolic process (GO:0006544)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|phosphoribosylamine-glycine ligase activity (GO:0004637)|phosphoribosylformylglycinamidine cyclo-ligase activity (GO:0004641)|phosphoribosylglycinamide formyltransferase activity (GO:0004644)			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	ACAATCACCCCTTTTCCAGCT	0.428																																																0													213	227	222					21																	34904710		2203	4300	6503	SO:0001583	missense	2618			M32082	CCDS13627.1, CCDS13628.1	21q22.11	2012-10-02			ENSG00000159131	ENSG00000159131	2.1.2.2, 6.3.3.1, 6.3.4.13		4163	protein-coding gene	gene with protein product		138440		PRGS, PGFT		2050105	Standard	NM_001136005		Approved		uc002yrx.3	P22102	OTTHUMG00000065628	ENST00000381831.3:c.469G>A	chr21.hg19:g.34904710C>T	ENSP00000371253:p.Gly157Arg		A8K945|A8KA32|D3DSF3|D3DSF4|O14659|Q52M77	Missense_Mutation	SNP	ENST00000381831.3	hg19	CCDS13627.1	.	.	.	.	.	.	.	.	.	.	C	35	5.450836	0.96205	.	.	ENSG00000159131	ENST00000381815;ENST00000381831;ENST00000381839;ENST00000361093;ENST00000430874;ENST00000426819	T;T;T;T;T;T	0.67698	0.46;0.46;0.46;0.38;-0.15;-0.28	6.07	6.07	0.98685	ATP-grasp fold (1);ATP-grasp fold, subdomain 1 (1);Phosphoribosylglycinamide synthetase, ATP-grasp (A) domain (1);	0.000000	0.85682	D	0.000000	D	0.87787	0.6265	H	0.94542	3.55	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	D	0.89842	0.4003	10	0.87932	D	0	-20.8496	20.6593	0.99626	0.0:1.0:0.0:0.0	.	157	P22102	PUR2_HUMAN	R	157	ENSP00000371236:G157R;ENSP00000371253:G157R;ENSP00000371261:G157R;ENSP00000354388:G157R;ENSP00000413040:G157R;ENSP00000398631:G157R	ENSP00000354388:G157R	G	-	1	0	GART	33826580	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.487000	0.81328	2.885000	0.99019	0.655000	0.94253	GGG		0.428	GART-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140626.3	NM_000819		T	34904710	C	T	34904710	3	4	690	1	0	0	0	0	1	0	0	0	6245	681	24	2	2639	2	GART	21	34904710	Missense_Mutation	SNP	C	TCGA-J7-8537-01A-11D-2396-08		34904710	13225185	40	38179											
ADORA2A	135	hgsc.bcm.edu	37	22	24837246	24837246	+	Missense_Mutation	SNP	C	C	T			TCGA-J7-8537-01A-11D-2396-08	TCGA-J7-8537-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3cf4b130-0aa3-407e-9fea-bd8ddd8b7d5b	56af51d5-45a7-4a64-ba3e-f810d95407f8	g.chr22:24837246C>T	ENST00000337539.7	+	3	1487	c.1028C>T	c.(1027-1029)cCa>cTa	p.P343L	ADORA2A-AS1_ENST00000543438.1_RNA|SPECC1L-ADORA2A_ENST00000358654.2_3'UTR|ADORA2A-AS1_ENST00000427813.2_RNA|ADORA2A-AS1_ENST00000326341.4_RNA	NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1	NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1	P29274	AA2AR_HUMAN	adenosine A2a receptor	343					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cAMP biosynthetic process (GO:0006171)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|central nervous system development (GO:0007417)|inflammatory response (GO:0006954)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phagocytosis (GO:0006909)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|sensory perception (GO:0007600)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|G-protein coupled adenosine receptor activity (GO:0001609)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21	Colorectal(2;0.196)				Adenosine(DB00640)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Mefloquine(DB00358)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Regadenoson(DB06213)|Theobromine(DB01412)|Theophylline(DB00277)	GGCCACCCGCCAGGAGTGTGG	0.662																																																0													25	22	23					22																	24837246		2202	4299	6501	SO:0001583	missense	135			X68486	CCDS13826.1	22q11.23	2012-08-08			ENSG00000128271	ENSG00000128271		"GPCR / Class A : Adenosine receptors"	263	protein-coding gene	gene with protein product		102776		ADORA2		1662665, 2541503	Standard	NM_001278497		Approved	RDC8	uc002zzy.4	P29274	OTTHUMG00000150761	ENST00000337539.7:c.1028C>T	chr22.hg19:g.24837246C>T	ENSP00000336630:p.Pro343Leu		B2R7E0	Missense_Mutation	SNP	ENST00000337539.7	hg19	CCDS13826.1	.	.	.	.	.	.	.	.	.	.	C	1.893	-0.454933	0.04540	.	.	ENSG00000128271	ENST00000444262;ENST00000541988;ENST00000337539;ENST00000417596	T;T	0.62941	0.01;-0.01	4.95	0.288	0.15719	.	0.374401	0.24291	N	0.039802	T	0.37972	0.1023	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.08722	-1.0708	10	0.26408	T	0.33	-1.5144	3.3452	0.07132	0.1839:0.3375:0.0:0.4785	.	343	P29274	AA2AR_HUMAN	L	343	ENSP00000414802:P343L;ENSP00000336630:P343L	ENSP00000336630:P343L	P	+	2	0	ADORA2A	23167246	0.000000	0.05858	0.000000	0.03702	0.511000	0.34104	0.577000	0.23758	0.177000	0.19895	0.462000	0.41574	CCA		0.662	ADORA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319971.2	NM_000675		T	24837246	C	T	24837246	3	4	690	1	0	0	0	0	1	0	0	0	327	594	21	2	1034	2	ADORA2A	22	24837246	Missense_Mutation	SNP	C	TCGA-J7-8537-01A-11D-2396-08		24837246	26467320	41	38180											
GRPR	2925	hgsc.bcm.edu	37	X	16168549	16168550	+	Frame_Shift_Ins	INS	-	-	C			TCGA-J7-8537-01A-11D-2396-08	TCGA-J7-8537-10A-01D-2396-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3cf4b130-0aa3-407e-9fea-bd8ddd8b7d5b	56af51d5-45a7-4a64-ba3e-f810d95407f8	g.chrX:16168549_16168550insC	ENST00000380289.2	+	2	933_934	c.535_536insC	c.(535-537)tctfs	p.S179fs	RP11-431J24.2_ENST00000422438.1_RNA|RP11-431J24.2_ENST00000435789.1_RNA|RP11-431J24.2_ENST00000454712.2_RNA	NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	179					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)					GGCCGTGTTTTCTGACCTCCAT	0.505																																																0																																										SO:0001589	frameshift_variant	2925				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.536dupC	chrX.hg19:g.16168550_16168550dupC	ENSP00000369643:p.Ser179fs		B2R910	Frame_Shift_Ins	INS	ENST00000380289.2	hg19	CCDS14174.1																																																																																				0.505	GRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055901.1	NM_005314		C	16168550	-	C	16168549	7	5	690	1	0	1	1	0	0	0	0	0	6810	1783	62	0	541	0	GRPR	23	16168549	Frame_Shift_Ins	INS	-	TCGA-J7-8537-01A-11D-2396-08		16168549	139102011	42	38181											
RP2	6102	hgsc.bcm.edu	37	X	46713306	46713306	+	Missense_Mutation	SNP	C	C	G			TCGA-J7-8537-01A-11D-2396-08	TCGA-J7-8537-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3cf4b130-0aa3-407e-9fea-bd8ddd8b7d5b	56af51d5-45a7-4a64-ba3e-f810d95407f8	g.chrX:46713306C>G	ENST00000218340.3	+	2	659	c.498C>G	c.(496-498)atC>atG	p.I166M		NM_006915.2	NP_008846.2	O75695	XRP2_HUMAN	retinitis pigmentosa 2 (X-linked recessive)	166	C-CAP/cofactor C-like. {ECO:0000255|PROSITE-ProRule:PRU00659}.				cell morphogenesis (GO:0000902)|CTP biosynthetic process (GO:0006241)|cytoskeleton organization (GO:0007010)|GTP biosynthetic process (GO:0006183)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein transport (GO:0015031)|UTP biosynthetic process (GO:0006228)|visual perception (GO:0007601)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|periciliary membrane compartment (GO:1990075)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|nucleoside diphosphate kinase activity (GO:0004550)|unfolded protein binding (GO:0051082)			NS(1)|large_intestine(4)|lung(5)|stomach(1)	11						GGCTAAGTATCTTCAACAATA	0.403																																																0													111	97	101					X																	46713306		2203	4300	6503	SO:0001583	missense	6102			AJ007590	CCDS14270.1	Xp11.3	2013-01-08			ENSG00000102218	ENSG00000102218			10274	protein-coding gene	gene with protein product		300757				6325945, 9697692, 19852809	Standard	NM_006915		Approved	TBCCD2, NME10, NM23-H10	uc004dgw.4	O75695	OTTHUMG00000021430	ENST00000218340.3:c.498C>G	chrX.hg19:g.46713306C>G	ENSP00000218340:p.Ile166Met		Q86XJ7|Q9NU67	Missense_Mutation	SNP	ENST00000218340.3	hg19	CCDS14270.1	.	.	.	.	.	.	.	.	.	.	C	14.78	2.637203	0.47049	.	.	ENSG00000102218	ENST00000218340	D	0.86627	-2.15	5.64	3.89	0.44902	Tubulin binding cofactor C (1);C-CAP/cofactor C-like domain (1);	0.093345	0.64402	D	0.000001	D	0.89646	0.6775	M	0.65975	2.015	0.48632	D	0.999683	P	0.52316	0.952	P	0.57324	0.818	D	0.87427	0.2386	10	0.48119	T	0.1	-23.7323	9.0313	0.36260	0.0:0.7697:0.0:0.2303	.	166	O75695	XRP2_HUMAN	M	166	ENSP00000218340:I166M	ENSP00000218340:I166M	I	+	3	3	RP2	46598250	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.459000	0.35234	0.558000	0.29135	-0.191000	0.12829	ATC		0.403	RP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056375.1	NM_006915		G	46713306	C	G	46713306	3	3	690	1	0	0	0	0	1	0	0	0	13540	903	32	4	504	4	RP2	23	46713306	Missense_Mutation	SNP	C	TCGA-J7-8537-01A-11D-2396-08	30544757	46713306	108557254	43	38182											
SLITRK2	84631	hgsc.bcm.edu	37	X	144904238	144904238	+	Nonsense_Mutation	SNP	C	C	T			TCGA-J7-8537-01A-11D-2396-08	TCGA-J7-8537-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3cf4b130-0aa3-407e-9fea-bd8ddd8b7d5b	56af51d5-45a7-4a64-ba3e-f810d95407f8	g.chrX:144904238C>T	ENST00000370490.1	+	1	4550	c.295C>T	c.(295-297)Cag>Tag	p.Q99*	SLITRK2_ENST00000428560.2_Nonsense_Mutation_p.Q99*|SLITRK2_ENST00000434188.2_Nonsense_Mutation_p.Q99*|SLITRK2_ENST00000413937.2_Nonsense_Mutation_p.Q99*|SLITRK2_ENST00000447897.2_Nonsense_Mutation_p.Q99*			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	99					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)					CAACGGGTTACAGGAGATCCG	0.458																																																0													77	69	72					X																	144904238		2203	4300	6503	SO:0001587	stop_gained	84631			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.295C>T	chrX.hg19:g.144904238C>T	ENSP00000359521:p.Gln99*		A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Nonsense_Mutation	SNP	ENST00000370490.1	hg19	CCDS14680.1	.	.	.	.	.	.	.	.	.	.	C	59	34.326611	0.99982	.	.	ENSG00000185985	ENST00000335565;ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	.	.	.	4.88	4.01	0.46588	.	0.066024	0.64402	U	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-7.1777	12.0035	0.53246	0.0:0.8284:0.1716:0.0	.	.	.	.	X	99	.	ENSP00000334374:Q99X	Q	+	1	0	SLITRK2	144711930	1.000000	0.71417	0.996000	0.52242	0.494000	0.33585	7.818000	0.86416	0.832000	0.34804	-0.218000	0.12543	CAG		0.458	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		T	144904238	C	T	144904238	4	4	690	1	0	0	0	0	0	1	0	0	14749	479	17	2	297	2	SLITRK2	23	144904238	Nonsense_Mutation	SNP	C	TCGA-J7-8537-01A-11D-2396-08	98190932	144904238	10366322	44	38183											
DMRTA2	63950	hgsc.bcm.edu	37	1	50885395	50885395	+	Missense_Mutation	SNP	G	G	C			TCGA-J7-A8I2-01A-12D-A35Z-10	TCGA-J7-A8I2-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9aace64d-14b2-435a-ab63-3891e2ae6bca	643d9c03-6b50-48da-aab4-0d369ca2392c	g.chr1:50885395G>C	ENST00000404795.3	-	3	963	c.571C>G	c.(571-573)Cag>Gag	p.Q191E	DMRTA2_ENST00000418121.1_Missense_Mutation_p.Q191E	NM_032110.2	NP_115486.1	Q96SC8	DMTA2_HUMAN	DMRT-like family A2	191	Gly-rich.				cerebral cortex regionalization (GO:0021796)|dopaminergic neuron differentiation (GO:0071542)|neuron fate specification (GO:0048665)|positive regulation of neuroblast proliferation (GO:0002052)|skeletal muscle cell differentiation (GO:0035914)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(4)|pancreas(1)	6						TCAAACTTCTGCAACTTGGCC	0.617																																					Colon(196;1651 2045 3292 36497 38236)|Esophageal Squamous(2;257 258 11567 27043 43804)											0													14	15	15					1																	50885395		1951	4137	6088	SO:0001583	missense	63950			AJ301580	CCDS44141.1	1p33	2008-08-04			ENSG00000142700	ENSG00000142700			13908	protein-coding gene	gene with protein product		614804				11863363	Standard	NM_032110		Approved		uc010onb.2	Q96SC8	OTTHUMG00000007884	ENST00000404795.3:c.571C>G	chr1.hg19:g.50885395G>C	ENSP00000383909:p.Gln191Glu		Q5TFQ3	Missense_Mutation	SNP	ENST00000404795.3	hg19	CCDS44141.1	.	.	.	.	.	.	.	.	.	.	G	10.52	1.372316	0.24857	.	.	ENSG00000142700	ENST00000404795;ENST00000418121	T;T	0.32023	1.47;1.47	3.98	3.98	0.46160	.	0.740013	0.12457	N	0.467217	T	0.27454	0.0674	L	0.52573	1.65	0.49915	D	0.999837	P	0.44090	0.826	B	0.40940	0.344	T	0.13926	-1.0491	10	0.02654	T	1	-9.7172	15.3449	0.74327	0.0:0.0:1.0:0.0	.	191	Q96SC8	DMTA2_HUMAN	E	191	ENSP00000383909:Q191E;ENSP00000399370:Q191E	ENSP00000383909:Q191E	Q	-	1	0	DMRTA2	50657982	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.385000	0.90163	2.194000	0.70268	0.462000	0.41574	CAG		0.617	DMRTA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351074.1	NM_032110		C	50885395	G	C	50885395	3	2	691	1	0	0	0	0	1	0	0	0	4591	1328	46	4	1061	4	DMRTA2	1	50885395	Missense_Mutation	SNP	G	TCGA-J7-A8I2-01A-12D-A35Z-10		50885395	198365226	1	38184											
PPAP2B	8613	hgsc.bcm.edu	37	1	56989998	56989998	+	Missense_Mutation	SNP	T	T	A			TCGA-J7-A8I2-01A-12D-A35Z-10	TCGA-J7-A8I2-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9aace64d-14b2-435a-ab63-3891e2ae6bca	643d9c03-6b50-48da-aab4-0d369ca2392c	g.chr1:56989998T>A	ENST00000371250.3	-	3	1077	c.526A>T	c.(526-528)Att>Ttt	p.I176F		NM_003713.4	NP_003704.3	O14495	LPP3_HUMAN	phosphatidic acid phosphatase type 2B	176					Bergmann glial cell differentiation (GO:0060020)|blood vessel development (GO:0001568)|canonical Wnt signaling pathway involved in positive regulation of cell-cell adhesion (GO:0044329)|canonical Wnt signaling pathway involved in positive regulation of endothelial cell migration (GO:0044328)|canonical Wnt signaling pathway involved in positive regulation of wound healing (GO:0044330)|dephosphorylation (GO:0016311)|gastrulation with mouth forming second (GO:0001702)|germ cell migration (GO:0008354)|homotypic cell-cell adhesion (GO:0034109)|lipid metabolic process (GO:0006629)|negative regulation of protein phosphorylation (GO:0001933)|phospholipid metabolic process (GO:0006644)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein stabilization (GO:0050821)|regulation of sphingolipid mediated signaling pathway (GO:1902068)|regulation of Wnt signaling pathway (GO:0030111)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	adherens junction (GO:0005912)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)|phosphoprotein phosphatase activity (GO:0004721)|sphingosine-1-phosphate phosphatase activity (GO:0042392)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						TAGTTCTGAATGTAGCCTTCA	0.527																																																0													144	141	142					1																	56989998		2203	4300	6503	SO:0001583	missense	8613			AB000889	CCDS604.1	1p32.2	2009-05-27			ENSG00000162407	ENSG00000162407	3.1.3.4		9229	protein-coding gene	gene with protein product		607125				9305923	Standard	NM_003713		Approved	PAP-2b, LPP3	uc001cyj.2	O14495	OTTHUMG00000008160	ENST00000371250.3:c.526A>T	chr1.hg19:g.56989998T>A	ENSP00000360296:p.Ile176Phe		B2R651|D3DQ52|Q5U0F7|Q96GW0|Q99782	Missense_Mutation	SNP	ENST00000371250.3	hg19	CCDS604.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.131509	0.77549	.	.	ENSG00000162407	ENST00000371250	T	0.36340	1.26	5.56	3.21	0.36854	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.156720	0.56097	D	0.000033	T	0.55625	0.1932	M	0.78637	2.42	0.80722	D	1	P	0.45212	0.853	P	0.62885	0.908	T	0.57004	-0.7885	10	0.87932	D	0	.	8.5688	0.33556	0.0:0.2073:0.0:0.7927	.	176	O14495	LPP3_HUMAN	F	176	ENSP00000360296:I176F	ENSP00000360296:I176F	I	-	1	0	PPAP2B	56762586	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.446000	0.52928	0.926000	0.37118	0.533000	0.62120	ATT		0.527	PPAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022334.2	NM_003713		A	56989998	T	A	56989998	3	1	691	1	0	0	0	0	1	0	0	0	12293	1464	51	5	425	5	PPAP2B	1	56989998	Missense_Mutation	SNP	T	TCGA-J7-A8I2-01A-12D-A35Z-10	6104603	56989998	192260623	2	38185											
TPO	7173	hgsc.bcm.edu	37	2	1481209	1481209	+	Silent	SNP	C	C	T			TCGA-J7-A8I2-01A-12D-A35Z-10	TCGA-J7-A8I2-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9aace64d-14b2-435a-ab63-3891e2ae6bca	643d9c03-6b50-48da-aab4-0d369ca2392c	g.chr2:1481209C>T	ENST00000345913.4	+	8	1262	c.1171C>T	c.(1171-1173)Ctg>Ttg	p.L391L	TPO_ENST00000329066.4_Silent_p.L391L|TPO_ENST00000382201.3_Silent_p.L391L|TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Intron|TPO_ENST00000337415.3_Silent_p.L391L|TPO_ENST00000349624.3_Intron|TPO_ENST00000346956.3_Silent_p.L391L	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	391					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GCCCTGCTTCCTGGCCGGAGA	0.771																																																0													1	1	1					2																	1481209		1216	2495	3711	SO:0001819	synonymous_variant	7173				CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.1171C>T	chr2.hg19:g.1481209C>T			P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Silent	SNP	ENST00000345913.4	hg19	CCDS1643.1																																																																																				0.771	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		T	1481209	C	T	1481209	2	4	691	1	0	0	0	0	0	0	0	1	16415	680	24	2		2	TPO	2	1481209	Silent	SNP	C	TCGA-J7-A8I2-01A-12D-A35Z-10		1481209	241718164	3	38186											
KCNF1	3754	hgsc.bcm.edu	37	2	11053663	11053663	+	Missense_Mutation	SNP	G	G	A			TCGA-J7-A8I2-01A-12D-A35Z-10	TCGA-J7-A8I2-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9aace64d-14b2-435a-ab63-3891e2ae6bca	643d9c03-6b50-48da-aab4-0d369ca2392c	g.chr2:11053663G>A	ENST00000295082.1	+	1	1601	c.1111G>A	c.(1111-1113)Gtc>Atc	p.V371I		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	371					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		CATGACCACCGTCGGCTACGG	0.607																																																0													126	97	106					2																	11053663		2203	4300	6503	SO:0001583	missense	3754			AF033382	CCDS1676.1	2p25	2011-07-05			ENSG00000162975	ENSG00000162975		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6246	protein-coding gene	gene with protein product		603787		KCNF		9434767, 16382104	Standard	NM_002236		Approved	Kv5.1, kH1, IK8	uc002rax.3	Q9H3M0	OTTHUMG00000119054	ENST00000295082.1:c.1111G>A	chr2.hg19:g.11053663G>A	ENSP00000295082:p.Val371Ile		O43527|Q585L3	Missense_Mutation	SNP	ENST00000295082.1	hg19	CCDS1676.1	.	.	.	.	.	.	.	.	.	.	g	24.4	4.523021	0.85600	.	.	ENSG00000162975	ENST00000295082	D	0.97575	-4.44	5.32	5.32	0.75619	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98327	0.9445	M	0.76433	2.335	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.99316	1.0905	10	0.87932	D	0	.	19.3693	0.94479	0.0:0.0:1.0:0.0	.	371	Q9H3M0	KCNF1_HUMAN	I	371	ENSP00000295082:V371I	ENSP00000295082:V371I	V	+	1	0	KCNF1	10971114	1.000000	0.71417	0.399000	0.26333	0.996000	0.88848	9.813000	0.99286	2.640000	0.89533	0.651000	0.88453	GTC		0.607	KCNF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239265.1	NM_002236		A	11053663	G	A	11053663	3	1	691	1	0	0	0	0	1	0	0	0	8028	1145	40	1	1113	1	KCNF1	2	11053663	Missense_Mutation	SNP	G	TCGA-J7-A8I2-01A-12D-A35Z-10	9572454	11053663	232145710	4	38187											
C2orf28	8884	hgsc.bcm.edu	37	2	27435095	27435095	+	De_novo_Start_OutOfFrame	SNP	C	C	T			TCGA-J7-A8I2-01A-12D-A35Z-10	TCGA-J7-A8I2-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9aace64d-14b2-435a-ab63-3891e2ae6bca	643d9c03-6b50-48da-aab4-0d369ca2392c	g.chr2:27435095C>T	ENST00000310574.3	-	0	59				SLC5A6_ENST00000408041.1_5'Flank|ATRAID_ENST00000405489.3_5'Flank|ATRAID_ENST00000380171.3_Silent_p.H8H|ATRAID_ENST00000606999.1_5'Flank	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6						biotin metabolic process (GO:0006768)|biotin transport (GO:0015878)|pantothenate metabolic process (GO:0015939)|pantothenate transmembrane transport (GO:0015887)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|gabapentin enacarbil(DB08872)|Lipoic Acid(DB00166)	CAGAGCTCCACGAGCAGGAAA	0.701																																																0													6	8	7					2																	27435095		2097	4118	6215			51374			AF069307	CCDS1740.1	2p23	2013-07-19	2013-07-19		ENSG00000138074	ENSG00000138074		"Solute carriers"	11041	protein-coding gene	gene with protein product		604024	"solute carrier family 5 (sodium-dependent vitamin transporter), member 6"			9516450, 10329687	Standard	NM_021095		Approved	SMVT	uc002rjd.3	Q9Y289	OTTHUMG00000097075	ENST00000310574.3:c.-415G>A	chr2.hg19:g.27435095C>T			B2RB85|D6W549|Q969Y5	Silent	SNP	ENST00000310574.3	hg19	CCDS1740.1																																																																																				0.701	SLC5A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214194.1	NM_021095		T	27435095	C	T	27435095	1	4	691	1	0	1	0	0	0	0	0	0	2162	535	19	1		1	C2orf28	2	27435095	De_novo_Start_OutOfFrame	SNP	C	TCGA-J7-A8I2-01A-12D-A35Z-10	16381432	27435095	215764278	5	38188											
ALK	238	hgsc.bcm.edu	37	2	29456516	29456516	+	Missense_Mutation	SNP	A	A	G			TCGA-J7-A8I2-01A-12D-A35Z-10	TCGA-J7-A8I2-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9aace64d-14b2-435a-ab63-3891e2ae6bca	643d9c03-6b50-48da-aab4-0d369ca2392c	g.chr2:29456516A>G	ENST00000389048.3	-	14	3308	c.2402T>C	c.(2401-2403)aTa>aCa	p.I801T	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	801					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	TTCTTCTTCTATCACATTGTT	0.478			"T, Mis, A"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	"ALCL, NSCLC, Neuroblastoma"	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"L, E, M"	0													193	177	182					2																	29456516		2203	4300	6503	SO:0001583	missense	238	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"CD molecules"	427	protein-coding gene	gene with protein product		105590	"anaplastic lymphoma kinase (Ki-1)"			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.2402T>C	chr2.hg19:g.29456516A>G	ENSP00000373700:p.Ile801Thr		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	hg19	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	A	17.50	3.405704	0.62288	.	.	ENSG00000171094	ENST00000389048	T	0.41065	1.01	5.29	5.29	0.74685	.	0.000000	0.51477	D	0.000085	T	0.44808	0.1311	L	0.49126	1.545	0.80722	D	1	P	0.38250	0.624	B	0.43445	0.42	T	0.31558	-0.9939	9	.	.	.	.	15.2522	0.73556	1.0:0.0:0.0:0.0	.	801	Q9UM73	ALK_HUMAN	T	801	ENSP00000373700:I801T	.	I	-	2	0	ALK	29310020	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.230000	0.65321	2.007000	0.58848	0.459000	0.35465	ATA		0.478	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		G	29456516	A	G	29456516	3	3	691	1	0	0	0	0	1	0	0	0	525	449	16	3	2524	3	ALK	2	29456516	Missense_Mutation	SNP	A	TCGA-J7-A8I2-01A-12D-A35Z-10	2021421	29456516	213742857	6	38189											
PNPT1	87178	hgsc.bcm.edu	37	2	55870498	55870498	+	Missense_Mutation	SNP	T	T	C			TCGA-J7-A8I2-01A-12D-A35Z-10	TCGA-J7-A8I2-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9aace64d-14b2-435a-ab63-3891e2ae6bca	643d9c03-6b50-48da-aab4-0d369ca2392c	g.chr2:55870498T>C	ENST00000447944.2	-	24	2055	c.1969A>G	c.(1969-1971)Atg>Gtg	p.M657V		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	657	KH. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA polyadenylation (GO:0097222)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA 5'-end processing (GO:0000964)|mitochondrial RNA catabolic process (GO:0000957)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle arrest (GO:0071850)|mRNA catabolic process (GO:0006402)|negative regulation of growth (GO:0045926)|nuclear polyadenylation-dependent mRNA catabolic process (GO:0071042)|positive regulation of miRNA catabolic process (GO:2000627)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|positive regulation of mRNA catabolic process (GO:0061014)|protein homooligomerization (GO:0051260)|protein homotrimerization (GO:0070207)|regulation of cellular respiration (GO:0043457)|regulation of cellular senescence (GO:2000772)|RNA catabolic process (GO:0006401)|RNA import into mitochondrion (GO:0035927)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA polyadenylation (GO:0043631)|rRNA import into mitochondrion (GO:0035928)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrial degradosome (GO:0045025)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	3'-5'-exoribonuclease activity (GO:0000175)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|polyribonucleotide nucleotidyltransferase activity (GO:0004654)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GCCTCATGCATAGCACTGGGT	0.313																																																0													142	134	137					2																	55870498		2203	4300	6503	SO:0001583	missense	87178			BC053660	CCDS1856.1	2p15	2013-01-08			ENSG00000138035	ENSG00000138035			23166	protein-coding gene	gene with protein product	"polynucleotide phosphorylase", "3'-5' RNA exonuclease"	610316	"deafness, autosomal recessive 70"	DFNB70		12419256	Standard	NM_033109		Approved	PNPase, OLD35, old-35	uc002rzf.3	Q8TCS8	OTTHUMG00000129335	ENST00000447944.2:c.1969A>G	chr2.hg19:g.55870498T>C	ENSP00000400646:p.Met657Val		Q53SU0|Q68CN1|Q7Z7D1|Q8IWX1|Q96T05|Q9BRU3|Q9BVX0	Missense_Mutation	SNP	ENST00000447944.2	hg19	CCDS1856.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.753568	0.69648	.	.	ENSG00000138035	ENST00000447944	T	0.17370	2.28	5.17	4.01	0.46588	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.084629	0.85682	D	0.000000	T	0.30947	0.0781	M	0.62154	1.92	0.58432	D	0.999999	P	0.47604	0.898	P	0.57548	0.823	T	0.01688	-1.1295	10	0.26408	T	0.33	-22.0783	11.4955	0.50406	0.1346:0.0:0.0:0.8654	.	657	Q8TCS8	PNPT1_HUMAN	V	657	ENSP00000400646:M657V	ENSP00000393953:M657V	M	-	1	0	PNPT1	55724002	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	5.814000	0.69208	0.811000	0.34303	-0.544000	0.04233	ATG		0.313	PNPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251481.2	NM_033109		C	55870498	T	C	55870498	3	2	691	1	0	0	0	0	1	0	0	0	12175	1406	49	3	402	3	PNPT1	2	55870498	Missense_Mutation	SNP	T	TCGA-J7-A8I2-01A-12D-A35Z-10	26413982	55870498	187328875	7	38190											
ALMS1	7840	hgsc.bcm.edu	37	2	73680351	73680351	+	Missense_Mutation	SNP	A	A	G			TCGA-J7-A8I2-01A-12D-A35Z-10	TCGA-J7-A8I2-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9aace64d-14b2-435a-ab63-3891e2ae6bca	643d9c03-6b50-48da-aab4-0d369ca2392c	g.chr2:73680351A>G	ENST00000264448.6	+	8	6805	c.6694A>G	c.(6694-6696)Ata>Gta	p.I2232V	ALMS1_ENST00000409009.1_Missense_Mutation_p.I2190V|ALMS1_ENST00000377715.1_Missense_Mutation_p.I2232V	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2232					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						CAGAGTTGTAATAAATAAACC	0.353																																																0													54	53	53					2																	73680351		1831	4094	5925	SO:0001583	missense	7840			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.6694A>G	chr2.hg19:g.73680351A>G	ENSP00000264448:p.Ile2232Val		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	hg19	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	A	10.19	1.282885	0.23392	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.15017	3.34;3.34;2.46	6.03	3.6	0.41247	.	0.109289	0.41712	D	0.000822	T	0.13543	0.0328	L	0.48642	1.525	0.09310	N	1	B;B;B	0.33940	0.23;0.433;0.433	B;B;B	0.32677	0.15;0.134;0.134	T	0.19160	-1.0314	10	0.46703	T	0.11	.	5.3339	0.15947	0.7629:0.0:0.0823:0.1548	.	2232;2190;2232	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	V	2190;2232;2232	ENSP00000386627:I2190V;ENSP00000264448:I2232V;ENSP00000366944:I2232V	ENSP00000264448:I2232V	I	+	1	0	ALMS1	73533859	0.183000	0.23186	0.175000	0.22980	0.402000	0.30811	1.065000	0.30592	0.485000	0.27652	0.533000	0.62120	ATA		0.353	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		G	73680351	A	G	73680351	3	3	691	1	0	0	0	0	1	0	0	0	535	101	4	3	6724	3	ALMS1	2	73680351	Missense_Mutation	SNP	A	TCGA-J7-A8I2-01A-12D-A35Z-10	17809853	73680351	169519022	8	38191											
CLASP1	23332	hgsc.bcm.edu	37	2	122216460	122216460	+	Missense_Mutation	SNP	T	T	C			TCGA-J7-A8I2-01A-12D-A35Z-10	TCGA-J7-A8I2-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9aace64d-14b2-435a-ab63-3891e2ae6bca	643d9c03-6b50-48da-aab4-0d369ca2392c	g.chr2:122216460T>C	ENST00000263710.4	-	13	1659	c.1270A>G	c.(1270-1272)Att>Gtt	p.I424V	CLASP1_ENST00000455322.2_Missense_Mutation_p.I424V|CLASP1_ENST00000545861.1_Missense_Mutation_p.I192V|CLASP1_ENST00000397587.3_Missense_Mutation_p.I424V|CLASP1_ENST00000409078.3_Missense_Mutation_p.I424V|CLASP1_ENST00000430234.1_5'Flank|CLASP1_ENST00000541859.1_Missense_Mutation_p.I193V|CLASP1_ENST00000541377.1_Missense_Mutation_p.I424V	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	424					axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					GTGGCCATAATTTTGGCACTG	0.378																																																0													102	102	102					2																	122216460		1850	4097	5947	SO:0001583	missense	23332			AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"multiple asters 1"	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.1270A>G	chr2.hg19:g.122216460T>C	ENSP00000263710:p.Ile424Val		B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Missense_Mutation	SNP	ENST00000263710.4	hg19		.	.	.	.	.	.	.	.	.	.	T	3.808	-0.040404	0.07497	.	.	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000541859;ENST00000409078;ENST00000545861	T;T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.67;0.67	5.35	4.19	0.49359	Armadillo-like helical (1);Armadillo-type fold (1);CLASP N-terminal domain (1);	0.150369	0.64402	D	0.000012	T	0.12305	0.0299	N	0.00422	-1.515	0.33312	D	0.566265	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.09377	0.002;0.001;0.002;0.004	T	0.28170	-1.0052	10	0.02654	T	1	-1.4012	7.7836	0.29078	0.0:0.2102:0.0:0.7898	.	424;424;424;424	E7EUA5;F5GWS0;B7ZLX3;Q7Z460	.;.;.;CLAP1_HUMAN	V	424;424;424;424;193;424;192	ENSP00000263710:I424V;ENSP00000389372:I424V;ENSP00000380717:I424V;ENSP00000441625:I424V;ENSP00000441770:I193V;ENSP00000386442:I424V;ENSP00000438620:I192V	ENSP00000263710:I424V	I	-	1	0	CLASP1	121932930	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.415000	0.44635	0.971000	0.38288	0.533000	0.62120	ATT		0.378	CLASP1-201	KNOWN	basic	protein_coding	protein_coding		NM_015282		C	122216460	T	C	122216460	3	2	691	1	0	0	0	0	1	0	0	0	3456	1493	52	3	3510	3	CLASP1	2	122216460	Missense_Mutation	SNP	T	TCGA-J7-A8I2-01A-12D-A35Z-10	48536109	122216460	120982913	9	38192											
TSN	7247	hgsc.bcm.edu	37	2	122513374	122513374	+	Missense_Mutation	SNP	T	T	A			TCGA-J7-A8I2-01A-12D-A35Z-10	TCGA-J7-A8I2-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9aace64d-14b2-435a-ab63-3891e2ae6bca	643d9c03-6b50-48da-aab4-0d369ca2392c	g.chr2:122513374T>A	ENST00000389682.3	+	1	266	c.19T>A	c.(19-21)Ttc>Atc	p.F7I	TSN_ENST00000498545.1_3'UTR|TSN_ENST00000536142.1_Missense_Mutation_p.F7I|TSN_ENST00000409193.1_5'Flank	NM_001261401.1|NM_004622.2	NP_001248330.1|NP_004613.1	Q15631	TSN_HUMAN	translin	7					DNA recombination (GO:0006310)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|mRNA binding (GO:0003729)|sequence-specific DNA binding (GO:0043565)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)|skin(1)	12		Ovarian(717;0.0563)|Prostate(154;0.116)				GAGCGAGATCTTCGTGGAGCT	0.612																																																0													78	80	79					2																	122513374		2203	4300	6503	SO:0001583	missense	7247			X78627	CCDS33284.1, CCDS58723.1	2q21.1	2008-05-23			ENSG00000211460	ENSG00000211460			12379	protein-coding gene	gene with protein product	"recombination hotspot associated factor"	600575				7947454, 9244443	Standard	NM_004622		Approved	TRSLN, BCLF-1, REHF-1	uc002tnl.3	Q15631	OTTHUMG00000153334	ENST00000389682.3:c.19T>A	chr2.hg19:g.122513374T>A	ENSP00000374332:p.Phe7Ile		B7Z3X8|Q5U0K7	Missense_Mutation	SNP	ENST00000389682.3	hg19	CCDS33284.1	.	.	.	.	.	.	.	.	.	.	T	34	5.366476	0.95900	.	.	ENSG00000211460	ENST00000389682;ENST00000536142;ENST00000413418	.	.	.	4.18	4.18	0.49190	Translin, N-terminal (1);	0.225178	0.46758	D	0.000261	T	0.80303	0.4598	M	0.88906	2.99	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	T	0.83027	-0.0164	9	0.59425	D	0.04	-0.0926	11.0851	0.48082	0.0:0.0:0.0:1.0	.	7;7	B7Z3X8;Q15631	.;TSN_HUMAN	I	7	.	ENSP00000374332:F7I	F	+	1	0	TSN	122229844	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.462000	0.60121	1.761000	0.52028	0.460000	0.39030	TTC		0.612	TSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330767.1	NM_004622		A	122513374	T	A	122513374	3	1	691	1	0	0	0	0	1	0	0	0	16634	1609	56	5	21	5	TSN	2	122513374	Missense_Mutation	SNP	T	TCGA-J7-A8I2-01A-12D-A35Z-10	296914	122513374	120685999	10	38193											
NFE2L2	4780	hgsc.bcm.edu	37	2	178096314	178096314	+	Missense_Mutation	SNP	G	G	C			TCGA-J7-A8I2-01A-12D-A35Z-10	TCGA-J7-A8I2-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9aace64d-14b2-435a-ab63-3891e2ae6bca	643d9c03-6b50-48da-aab4-0d369ca2392c	g.chr2:178096314G>C	ENST00000397062.3	-	5	1571	c.1017C>G	c.(1015-1017)ttC>ttG	p.F339L	NFE2L2_ENST00000446151.2_Missense_Mutation_p.F316L|NFE2L2_ENST00000464747.1_Missense_Mutation_p.F323L|NFE2L2_ENST00000397063.4_Missense_Mutation_p.F323L	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	339					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			CAGAATCATTGAATTCTGCTG	0.453			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)																													Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	0													131	136	134					2																	178096314		2196	4299	6495	SO:0001583	missense	4780				CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"basic leucine zipper proteins"	7782	protein-coding gene	gene with protein product	"NF-E2-related factor 2"	600492	"nuclear factor (erythroid-derived 2)-like 2"			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.1017C>G	chr2.hg19:g.178096314G>C	ENSP00000380252:p.Phe339Leu		B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	hg19	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	G	6.841	0.524426	0.13066	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627	T;T;T;T	0.29142	2.3;2.3;2.3;1.58	5.83	2.66	0.31614	.	0.423208	0.29846	N	0.011059	T	0.23727	0.0574	L	0.53249	1.67	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.05750	-1.0866	10	0.09843	T	0.71	-2.2964	9.1144	0.36748	0.3416:0.0:0.6584:0.0	.	316;339	E9PGJ7;Q16236	.;NF2L2_HUMAN	L	323;339;316;67	ENSP00000380253:F323L;ENSP00000380252:F339L;ENSP00000411575:F316L;ENSP00000391590:F67L	ENSP00000380252:F339L	F	-	3	2	NFE2L2	177804560	0.997000	0.39634	0.999000	0.59377	0.988000	0.76386	0.667000	0.25112	0.823000	0.34589	0.563000	0.77884	TTC		0.453	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		C	178096314	G	C	178096314	3	2	691	1	0	0	0	0	1	0	0	0	10370	1281	45	4	804	4	NFE2L2	2	178096314	Missense_Mutation	SNP	G	TCGA-J7-A8I2-01A-12D-A35Z-10	55582940	178096314	65103059	11	38194											
PLEKHA3	65977	hgsc.bcm.edu	37	2	179358605	179358605	+	Silent	SNP	G	G	T			TCGA-J7-A8I2-01A-12D-A35Z-10	TCGA-J7-A8I2-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9aace64d-14b2-435a-ab63-3891e2ae6bca	643d9c03-6b50-48da-aab4-0d369ca2392c	g.chr2:179358605G>T	ENST00000234453.5	+	4	741	c.339G>T	c.(337-339)ctG>ctT	p.L113L	PLEKHA3_ENST00000461474.1_3'UTR	NM_019091.3	NP_061964.3	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3	113						Golgi apparatus (GO:0005794)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			GTGAATCGCTGAAAACCAAAA	0.323																																																0													77	72	74					2																	179358605		2203	4300	6503	SO:0001819	synonymous_variant	65977			AF286162	CCDS33336.1	2q31.2	2013-01-10	2002-01-14		ENSG00000116095	ENSG00000116095		"Pleckstrin homology (PH) domain containing"	14338	protein-coding gene	gene with protein product	"four-phosphate-adaptor protein 1"	607774	"pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 3"			11001876, 15107860	Standard	NM_019091		Approved	FAPP1	uc002umn.3	Q9HB20	OTTHUMG00000154446	ENST00000234453.5:c.339G>T	chr2.hg19:g.179358605G>T			Q4ZG69|Q86TQ1|Q9NXT3	Silent	SNP	ENST00000234453.5	hg19	CCDS33336.1																																																																																				0.323	PLEKHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335241.2	NM_019091		T	179358605	G	T	179358605	2	4	691	1	0	0	0	0	0	0	0	1	12059	1277	45	4		4	PLEKHA3	2	179358605	Silent	SNP	G	TCGA-J7-A8I2-01A-12D-A35Z-10	1262291	179358605	63840768	12	38195											
SGOL1	151648	hgsc.bcm.edu	37	3	20215950	20215950	+	Missense_Mutation	SNP	C	C	G			TCGA-J7-A8I2-01A-12D-A35Z-10	TCGA-J7-A8I2-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9aace64d-14b2-435a-ab63-3891e2ae6bca	643d9c03-6b50-48da-aab4-0d369ca2392c	g.chr3:20215950C>G	ENST00000263753.4	-	6	1212	c.1073G>C	c.(1072-1074)aGa>aCa	p.R358T	SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000425061.1_Intron|SGOL1_ENST00000421451.1_Missense_Mutation_p.R358T|SGOL1_ENST00000383774.1_Intron|SGOL1_ENST00000412997.1_Missense_Mutation_p.R358T|SGOL1_ENST00000419233.2_Intron|SGOL1_ENST00000443724.1_Intron|SGOL1_ENST00000442720.1_Intron|SGOL1_ENST00000437051.1_Intron|SGOL1_ENST00000429446.3_Intron|SGOL1_ENST00000417364.1_Intron|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000412868.1_Missense_Mutation_p.R358T|SGOL1_ENST00000306698.2_Intron|SGOL1_ENST00000452020.1_Intron	NM_001012410.3|NM_001199252.1	NP_001012410.1|NP_001186181.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	358					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						GTTTTCTTCTCTATTAGAGTC	0.398																																																0													142	129	134					3																	20215950		2203	4300	6503	SO:0001583	missense	151648			BC001339	CCDS2635.1, CCDS33716.1, CCDS46771.1, CCDS46772.1, CCDS46773.1, CCDS46774.1, CCDS56243.1	3p24.3	2005-07-27			ENSG00000129810	ENSG00000129810			25088	protein-coding gene	gene with protein product		609168				12747765	Standard	NM_001199251		Approved	NY-BR-85	uc003cbu.3	Q5FBB7	OTTHUMG00000130479	ENST00000263753.4:c.1073G>C	chr3.hg19:g.20215950C>G	ENSP00000263753:p.Arg358Thr		Q588H5|Q5FBB4|Q5FBB5|Q5FBB6|Q5FBB8|Q8N579|Q8WVL0|Q9BVA8|Q9H275	Missense_Mutation	SNP	ENST00000263753.4	hg19	CCDS33716.1	.	.	.	.	.	.	.	.	.	.	C	3.154	-0.173522	0.06421	.	.	ENSG00000129810	ENST00000263753;ENST00000421451;ENST00000412997;ENST00000412868	T;T;T;T	0.31769	1.48;1.48;1.5;1.5	5.76	-0.651	0.11454	.	0.794180	0.11812	N	0.527060	T	0.16342	0.0393	L	0.38838	1.175	0.20196	N	0.999927	B;B	0.21381	0.055;0.055	B;B	0.15052	0.012;0.012	T	0.25398	-1.0133	10	0.19590	T	0.45	.	0.7717	0.01025	0.2512:0.323:0.1118:0.314	.	358;358	B5BUA4;Q5FBB7	.;SGOL1_HUMAN	T	358	ENSP00000263753:R358T;ENSP00000414129:R358T;ENSP00000410458:R358T;ENSP00000406880:R358T	ENSP00000263753:R358T	R	-	2	0	SGOL1	20190954	0.000000	0.05858	0.024000	0.17045	0.228000	0.25075	-0.798000	0.04565	0.030000	0.15379	0.561000	0.74099	AGA		0.398	SGOL1-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340498.1	NM_138484		G	20215950	C	G	20215950	3	3	691	1	0	0	0	0	1	0	0	0	14222	913	32	4	648	4	SGOL1	3	20215950	Missense_Mutation	SNP	C	TCGA-J7-A8I2-01A-12D-A35Z-10		20215950	177806480	13	38196											
KIAA2018	205717	hgsc.bcm.edu	37	3	113383247	113383247	+	Missense_Mutation	SNP	T	T	C			TCGA-J7-A8I2-01A-12D-A35Z-10	TCGA-J7-A8I2-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9aace64d-14b2-435a-ab63-3891e2ae6bca	643d9c03-6b50-48da-aab4-0d369ca2392c	g.chr3:113383247T>C	ENST00000478658.1	-	4	186	c.169A>G	c.(169-171)Atg>Gtg	p.M57V	KIAA2018_ENST00000316407.4_Missense_Mutation_p.M57V|KIAA2018_ENST00000491165.1_Missense_Mutation_p.M57V			Q68DE3	K2018_HUMAN	KIAA2018	57	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.					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						TCCAGGATCATATTCTTGCTC	0.318																																																0													84	77	79					3																	113383247		1794	4067	5861	SO:0001583	missense	205717			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.169A>G	chr3.hg19:g.113383247T>C	ENSP00000420721:p.Met57Val		Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	ENST00000478658.1	hg19	CCDS43133.1	.	.	.	.	.	.	.	.	.	.	T	16.86	3.238796	0.58995	.	.	ENSG00000176542	ENST00000491165;ENST00000316407;ENST00000478658	D;D;D	0.97906	-4.6;-4.6;-4.6	4.83	4.83	0.62350	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.97120	0.9059	N	0.20685	0.6	0.58432	D	0.999998	D	0.76494	0.999	D	0.79108	0.992	D	0.98417	1.0575	10	0.87932	D	0	-13.03	14.8689	0.70441	0.0:0.0:0.0:1.0	.	57	Q68DE3	K2018_HUMAN	V	57	ENSP00000420752:M57V;ENSP00000320794:M57V;ENSP00000420721:M57V	ENSP00000320794:M57V	M	-	1	0	KIAA2018	114865937	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.431000	0.80335	2.167000	0.68274	0.528000	0.53228	ATG		0.318	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		C	113383247	T	C	113383247	3	2	691	1	0	0	0	0	1	0	0	0	8270	1406	49	3	6576	3	KIAA2018	3	113383247	Missense_Mutation	SNP	T	TCGA-J7-A8I2-01A-12D-A35Z-10	93167297	113383247	84639183	14	38197											
CCDC37	348807	hgsc.bcm.edu	37	3	126137471	126137471	+	Missense_Mutation	SNP	G	G	C			TCGA-J7-A8I2-01A-12D-A35Z-10	TCGA-J7-A8I2-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9aace64d-14b2-435a-ab63-3891e2ae6bca	643d9c03-6b50-48da-aab4-0d369ca2392c	g.chr3:126137471G>C	ENST00000352312.1	+	7	603	c.504G>C	c.(502-504)aaG>aaC	p.K168N	CCDC37_ENST00000505024.1_Missense_Mutation_p.K169N|CCDC37_ENST00000393425.1_Missense_Mutation_p.K169N	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	168										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		TGGATGTCAAGCGGAGAGAGA	0.672																																																0													29	32	31					3																	126137471		2200	4298	6498	SO:0001583	missense	348807			AK097402	CCDS3037.1	3q21.2	2014-07-31			ENSG00000163885	ENSG00000163885			26842	protein-coding gene	gene with protein product						23569216	Standard	NM_182628		Approved	FLJ40083, MIA1	uc003eiu.1	Q494V2	OTTHUMG00000162691	ENST00000352312.1:c.504G>C	chr3.hg19:g.126137471G>C	ENSP00000344749:p.Lys168Asn		D3DNA8|Q494V1|Q494V4|Q8N838	Missense_Mutation	SNP	ENST00000352312.1	hg19	CCDS3037.1	.	.	.	.	.	.	.	.	.	.	G	9.840	1.190832	0.21954	.	.	ENSG00000163885	ENST00000352312;ENST00000393425;ENST00000505024	T;T;T	0.23754	1.89;1.89;1.89	4.74	1.94	0.25998	.	0.000000	0.85682	D	0.000000	T	0.52837	0.1759	M	0.89840	3.065	0.44762	D	0.997769	D;D	0.76494	0.999;0.999	D;D	0.80764	0.99;0.994	T	0.50955	-0.8766	10	0.52906	T	0.07	-39.2628	9.3746	0.38275	0.3372:0.0:0.6628:0.0	.	169;168	Q494V2-2;Q494V2	.;CCD37_HUMAN	N	168;169;169	ENSP00000344749:K168N;ENSP00000377076:K169N;ENSP00000423046:K169N	ENSP00000344749:K168N	K	+	3	2	CCDC37	127620161	0.996000	0.38824	0.111000	0.21465	0.005000	0.04900	1.465000	0.35299	-0.116000	0.11893	-1.579000	0.00862	AAG		0.672	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000370099.4	NM_182628		C	126137471	G	C	126137471	3	2	691	1	0	0	0	0	1	0	0	0	2811	962	34	4	526	4	CCDC37	3	126137471	Missense_Mutation	SNP	G	TCGA-J7-A8I2-01A-12D-A35Z-10	12754224	126137471	71884959	15	38198											
FGFR3	2261	hgsc.bcm.edu	37	4	1806099	1806099	+	Missense_Mutation	SNP	A	A	G	rs121913485		TCGA-J7-A8I2-01A-12D-A35Z-10	TCGA-J7-A8I2-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9aace64d-14b2-435a-ab63-3891e2ae6bca	643d9c03-6b50-48da-aab4-0d369ca2392c	g.chr4:1806099A>G	ENST00000260795.2	+	8	1220	c.1118A>G	c.(1117-1119)tAt>tGt	p.Y373C	FGFR3_ENST00000412135.2_Intron|FGFR3_ENST00000340107.4_Missense_Mutation_p.Y375C|FGFR3_ENST00000481110.2_Missense_Mutation_p.Y373C|FGFR3_ENST00000352904.1_Intron|FGFR3_ENST00000440486.2_Missense_Mutation_p.Y373C			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	373			Y -> C (in KERSEB and TD1; disulfide- linked dimer with constitutive kinase activation). {ECO:0000269|PubMed:10360402, ECO:0000269|PubMed:15772091, ECO:0000269|PubMed:8845844, ECO:0000269|PubMed:9207791}.		alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|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)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)	p.Y373C(395)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	GGCAGTGTGTATGCAGGCATC	0.682	Y373C(KMS11_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	1	"Mis, T"	"IGH@, ETV6"	"bladder, MM, T-cell lymphoma"		"Hypochondroplasia, Thanatophoric dysplasia"		Saethre-Chotzen syndrome;Muenke syndrome																														Dom	yes		4	4p16.3	2261	fibroblast growth factor receptor 3	yes	"L, E"	395	Substitution - Missense(395)	urinary_tract(371)|skin(16)|haematopoietic_and_lymphoid_tissue(8)	GRCh37	CM960657	FGFR3	M	rs121913485						141	134	137					4																	1806099		2203	4300	6503	SO:0001583	missense	2261	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3690	protein-coding gene	gene with protein product		134934	"achondroplasia, thanatophoric dwarfism"	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.1118A>G	chr4.hg19:g.1806099A>G	ENSP00000260795:p.Tyr373Cys		D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Missense_Mutation	SNP	ENST00000260795.2	hg19	CCDS3353.1	.	.	.	.	.	.	.	.	.	.	a	12.61	1.990190	0.35131	.	.	ENSG00000068078	ENST00000481110;ENST00000340107;ENST00000440486;ENST00000260795	D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35	4.68	1.93	0.25924	.	0.343855	0.31061	N	0.008340	D	0.93148	0.7818	M	0.82517	2.595	0.80722	A	1	D;D;D	0.76494	0.992;0.994;0.999	D;P;D	0.72625	0.94;0.896;0.978	D	0.94049	0.7316	9	0.72032	D	0.01	.	8.9873	0.36001	0.7079:0.0:0.0:0.2921	.	375;373;373	P22607-2;P22607;F8W9L4	.;FGFR3_HUMAN;.	C	373;375;373;373	ENSP00000420533:Y373C;ENSP00000339824:Y375C;ENSP00000414914:Y373C;ENSP00000260795:Y373C	ENSP00000260795:Y373C	Y	+	2	0	FGFR3	1775897	0.999000	0.42202	0.495000	0.27527	0.084000	0.17831	4.274000	0.58921	0.715000	0.32103	0.379000	0.24179	TAT		0.682	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2	NM_000142		G	1806099	A	G	1806099	3	3	691	1	0	0	0	0	1	0	0	0	5869	449	16	3	1303	3	FGFR3	4	1806099	Missense_Mutation	SNP	A	TCGA-J7-A8I2-01A-12D-A35Z-10		1806099	189348177	16	38199											
ABLIM2	84448	hgsc.bcm.edu	37	4	8082456	8082456	+	Silent	SNP	G	G	A			TCGA-J7-A8I2-01A-12D-A35Z-10	TCGA-J7-A8I2-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9aace64d-14b2-435a-ab63-3891e2ae6bca	643d9c03-6b50-48da-aab4-0d369ca2392c	g.chr4:8082456G>A	ENST00000341937.5	-	5	592	c.528C>T	c.(526-528)ggC>ggT	p.G176G	ABLIM2_ENST00000546334.1_Silent_p.G176G|ABLIM2_ENST00000447017.2_Silent_p.G176G|ABLIM2_ENST00000545242.1_Silent_p.G176G|ABLIM2_ENST00000407564.3_Silent_p.G176G|ABLIM2_ENST00000361581.5_Silent_p.G176G|ABLIM2_ENST00000318888.4_5'UTR|ABLIM2_ENST00000296372.8_Silent_p.G176G|ABLIM2_ENST00000428004.2_Silent_p.G176G|ABLIM2_ENST00000361737.5_Silent_p.G176G|ABLIM2_ENST00000505872.1_Silent_p.G176G	NM_001130084.1	NP_001123556.1	Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	176	LIM zinc-binding 3. {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						ACTTAAAACAGCCCAAGTGCC	0.557																																																0													65	70	68					4																	8082456		1977	4158	6135	SO:0001819	synonymous_variant	84448			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.528C>T	chr4.hg19:g.8082456G>A			E9PF39|Q08E71|Q19VH0|Q6H8Q0|Q6NX73|Q8N3C5|Q8N9E9|Q8N9G2|Q96JL7	Silent	SNP	ENST00000341937.5	hg19	CCDS47013.1																																																																																				0.557	ABLIM2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358862.2	NM_001130083		A	8082456	G	A	8082456	2	1	691	1	0	0	0	0	0	0	0	1	95	958	34	2		2	ABLIM2	4	8082456	Silent	SNP	G	TCGA-J7-A8I2-01A-12D-A35Z-10	6276357	8082456	183071820	17	38200											
PCDH18	54510	hgsc.bcm.edu	37	4	138451594	138451594	+	Missense_Mutation	SNP	C	C	G			TCGA-J7-A8I2-01A-12D-A35Z-10	TCGA-J7-A8I2-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9aace64d-14b2-435a-ab63-3891e2ae6bca	643d9c03-6b50-48da-aab4-0d369ca2392c	g.chr4:138451594C>G	ENST00000344876.4	-	1	2035	c.1649G>C	c.(1648-1650)gGa>gCa	p.G550A	PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.G330A|PCDH18_ENST00000412923.2_Missense_Mutation_p.G550A|PCDH18_ENST00000511115.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	550	Cadherin 5. {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)					CGGGCTTCCTCCATCTCTTGC	0.443																																																0													140	138	139					4																	138451594		2203	4300	6503	SO:0001583	missense	54510			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.1649G>C	chr4.hg19:g.138451594C>G	ENSP00000355082:p.Gly550Ala		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	hg19	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	C	5.574	0.290786	0.10567	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846	T;T;T	0.50277	0.75;0.75;0.75	5.93	5.93	0.95920	Cadherin (4);Cadherin-like (1);	0.000000	0.42420	D	0.000720	T	0.42291	0.1196	L	0.39566	1.225	0.80722	D	1	B;B;P	0.35628	0.145;0.016;0.513	B;B;B	0.35470	0.141;0.049;0.203	T	0.17715	-1.0360	10	0.13853	T	0.58	.	20.3437	0.98782	0.0:1.0:0.0:0.0	.	330;550;550	D6RIG4;Q9HCL0-2;Q9HCL0	.;.;PCD18_HUMAN	A	550;550;330	ENSP00000355082:G550A;ENSP00000390688:G550A;ENSP00000425903:G330A	ENSP00000355082:G550A	G	-	2	0	PCDH18	138671044	0.994000	0.37717	0.999000	0.59377	0.339000	0.28857	2.566000	0.45948	2.802000	0.96397	0.563000	0.77884	GGA		0.443	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		G	138451594	C	G	138451594	3	3	691	1	0	0	0	0	1	0	0	0	11515	855	30	4	1774	4	PCDH18	4	138451594	Missense_Mutation	SNP	C	TCGA-J7-A8I2-01A-12D-A35Z-10	130369138	138451594	52702682	18	38201											
FBXW7	55294	hgsc.bcm.edu	37	4	153273874	153273874	+	Intron	SNP	G	G	A			TCGA-J7-A8I2-01A-12D-A35Z-10	TCGA-J7-A8I2-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9aace64d-14b2-435a-ab63-3891e2ae6bca	643d9c03-6b50-48da-aab4-0d369ca2392c	g.chr4:153273874G>A	ENST00000281708.4	-	3	1731				FBXW7_ENST00000603841.1_Intron|FBXW7_ENST00000263981.5_Silent_p.V3V|FBXW7_ENST00000603548.1_Intron|FBXW7_ENST00000296555.5_Intron	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase						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)			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)				CGCTTCTCGGGACACACATAC	0.468			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																		Rec	yes		4	4q31.3	55294	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"		"E, L"	0													66	63	64					4																	153273874		2203	4300	6503	SO:0001627	intron_variant	55294			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"F-boxes / WD-40 domains", "WD repeat domain containing"	16712	protein-coding gene	gene with protein product	"archipelago homolog (Drosophila)"	606278	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)", "F-box and WD repeat domain containing 7"			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.502-2598C>T	chr4.hg19:g.153273874G>A			B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Silent	SNP	ENST00000281708.4	hg19	CCDS3777.1																																																																																				0.468	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			A	153273874	G	A	153273874	1	1	691	0	1	0	0	0	0	0	0	0	5771	1161	41	2		2	FBXW7	4	153273874	Intron	SNP	G	TCGA-J7-A8I2-01A-12D-A35Z-10	14822280	153273874	37880402	19	38202											
MAP1B	4131	hgsc.bcm.edu	37	5	71403432	71403432	+	Missense_Mutation	SNP	C	C	T			TCGA-J7-A8I2-01A-12D-A35Z-10	TCGA-J7-A8I2-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9aace64d-14b2-435a-ab63-3891e2ae6bca	643d9c03-6b50-48da-aab4-0d369ca2392c	g.chr5:71403432C>T	ENST00000296755.7	+	1	372	c.74C>T	c.(73-75)tCg>tTg	p.S25L	MAP1B_ENST00000504183.1_3'UTR	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	25					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)		GCGTCCACCTCGCCTAGCCTG	0.682																																					Melanoma(17;367 822 11631 31730 47712)											0													28	25	26					5																	71403432		2201	4299	6500	SO:0001583	missense	4131			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 102"	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.74C>T	chr5.hg19:g.71403432C>T	ENSP00000296755:p.Ser25Leu		A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	hg19	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.696927	0.88830	.	.	ENSG00000131711	ENST00000512974;ENST00000296755;ENST00000511641	T;T	0.06449	3.86;3.3	5.02	5.02	0.67125	.	0.000000	0.47455	D	0.000230	T	0.19005	0.0456	L	0.50333	1.59	0.58432	D	0.999996	D	0.76494	0.999	P	0.61275	0.886	T	0.00144	-1.1994	10	0.66056	D	0.02	-7.1031	18.5265	0.90974	0.0:1.0:0.0:0.0	.	25	P46821	MAP1B_HUMAN	L	25	ENSP00000296755:S25L;ENSP00000423444:S25L	ENSP00000296755:S25L	S	+	2	0	MAP1B	71439188	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	5.355000	0.66046	2.606000	0.88127	0.561000	0.74099	TCG		0.682	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		T	71403432	C	T	71403432	3	4	691	1	0	0	0	0	1	0	0	0	9230	893	31	1	76	1	MAP1B	5	71403432	Missense_Mutation	SNP	C	TCGA-J7-A8I2-01A-12D-A35Z-10		71403432	109511828	20	38203											
SCIN	85477	hgsc.bcm.edu	37	7	12689143	12689143	+	Missense_Mutation	SNP	G	G	T			TCGA-J7-A8I2-01A-12D-A35Z-10	TCGA-J7-A8I2-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9aace64d-14b2-435a-ab63-3891e2ae6bca	643d9c03-6b50-48da-aab4-0d369ca2392c	g.chr7:12689143G>T	ENST00000297029.5	+	14	2034	c.1933G>T	c.(1933-1935)Gtc>Ttc	p.V645F	SCIN_ENST00000519209.1_Missense_Mutation_p.V398F|SCIN_ENST00000445618.2_Missense_Mutation_p.V398F	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	645	Ca(2+)-dependent actin binding.				actin filament capping (GO:0051693)|actin filament severing (GO:0051014)|actin nucleation (GO:0045010)|calcium ion-dependent exocytosis (GO:0017156)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of secretion (GO:0051047)|regulation of chondrocyte differentiation (GO:0032330)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	1-phosphatidylinositol binding (GO:0005545)|actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		TGAAGATGATGTCATGTTACT	0.353																																																0													98	92	94					7																	12689143		1869	4107	5976	SO:0001583	missense	85477			AF276507	CCDS47545.1, CCDS47546.1	7p21.3	2006-04-25			ENSG00000006747	ENSG00000006747			21695	protein-coding gene	gene with protein product		613416					Standard	NM_033128		Approved	adseverin, KIAA1905	uc003ssn.4	Q9Y6U3	OTTHUMG00000152385	ENST00000297029.5:c.1933G>T	chr7.hg19:g.12689143G>T	ENSP00000297029:p.Val645Phe		A8K2U8|Q8NBZ6|Q8WU97|Q96JC7|Q96PY2	Missense_Mutation	SNP	ENST00000297029.5	hg19	CCDS47545.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.872781	0.91587	.	.	ENSG00000006747	ENST00000297029;ENST00000519209;ENST00000445618	T;T;T	0.30448	1.53;1.53;1.53	5.6	5.6	0.85130	Gelsolin domain (1);	0.058409	0.64402	D	0.000003	T	0.70842	0.3270	H	0.96080	3.765	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.80169	-0.1494	10	0.87932	D	0	-21.0868	20.0086	0.97443	0.0:0.0:1.0:0.0	.	645	Q9Y6U3	ADSV_HUMAN	F	645;398;398	ENSP00000297029:V645F;ENSP00000430997:V398F;ENSP00000390189:V398F	ENSP00000297029:V645F	V	+	1	0	SCIN	12655668	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.174000	0.94824	2.814000	0.96858	0.655000	0.94253	GTC		0.353	SCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326041.1	NM_033128		T	12689143	G	T	12689143	3	4	691	1	0	0	0	0	1	0	0	0	13911	1377	48	4	1987	4	SCIN	7	12689143	Missense_Mutation	SNP	G	TCGA-J7-A8I2-01A-12D-A35Z-10		12689143	146449520	21	38204											
RALA	5898	hgsc.bcm.edu	37	7	39736427	39736427	+	Missense_Mutation	SNP	C	C	T			TCGA-J7-A8I2-01A-12D-A35Z-10	TCGA-J7-A8I2-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9aace64d-14b2-435a-ab63-3891e2ae6bca	643d9c03-6b50-48da-aab4-0d369ca2392c	g.chr7:39736427C>T	ENST00000005257.2	+	4	847	c.467C>T	c.(466-468)aCa>aTa	p.T156I	RALA_ENST00000468201.1_3'UTR	NM_005402.3	NP_005393.2	P11233	RALA_HUMAN	v-ral simian leukemia viral oncogene homolog A (ras related)	156					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						TACGTGGAAACATCTGCTAAA	0.378																																																0													108	99	102					7																	39736427		2203	4300	6503	SO:0001583	missense	5898				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.467C>T	chr7.hg19:g.39736427C>T	ENSP00000005257:p.Thr156Ile		A4D1W3	Missense_Mutation	SNP	ENST00000005257.2	hg19	CCDS5460.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.750870	0.89753	.	.	ENSG00000006451	ENST00000005257	T	0.80653	-1.4	4.84	4.84	0.62591	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.91136	0.7209	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92791	0.6248	10	0.87932	D	0	.	18.3322	0.90274	0.0:1.0:0.0:0.0	.	156	P11233	RALA_HUMAN	I	156	ENSP00000005257:T156I	ENSP00000005257:T156I	T	+	2	0	RALA	39702952	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.814000	0.86154	2.396000	0.81511	0.563000	0.77884	ACA		0.378	RALA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250696.2	NM_005402		T	39736427	C	T	39736427	3	4	691	1	0	0	0	0	1	0	0	0	13016	478	17	2	477	2	RALA	7	39736427	Missense_Mutation	SNP	C	TCGA-J7-A8I2-01A-12D-A35Z-10	27047284	39736427	119402236	22	38205											
COL14A1	7373	hgsc.bcm.edu	37	8	121243856	121243856	+	Splice_Site	SNP	C	C	T	rs145606030		TCGA-J7-A8I2-01A-12D-A35Z-10	TCGA-J7-A8I2-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9aace64d-14b2-435a-ab63-3891e2ae6bca	643d9c03-6b50-48da-aab4-0d369ca2392c	g.chr8:121243856C>T	ENST00000297848.3	+	19	2618	c.2348C>T	c.(2347-2349)aCg>aTg	p.T783M	COL14A1_ENST00000247781.3_Splice_Site_p.T688M|COL14A1_ENST00000309791.4_Splice_Site_p.T783M|COL14A1_ENST00000432943.2_3'UTR|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)			GTCATAGGAACGGTCTGTATA	0.443																																																0								C	MET/THR	2,4404	4.2+/-10.8	0,2,2201	78	72	74		2348	3.7	1	8	dbSNP_134	74	0,8600		0,0,4300	yes	missense-near-splice	COL14A1	NM_021110.1	81	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	783/1797	121243856	2,13004	2203	4300	6503	SO:0001630	splice_region_variant	7373				CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"Collagens", "Fibronectin type III domain containing"	2191	protein-coding gene	gene with protein product		120324	"undulin"	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.2349+1C>T	chr8.hg19:g.121243856C>T				Missense_Mutation	SNP	ENST00000297848.3	hg19	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.063760	0.55432	4.54E-4	0.0	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620	T;T;T;T	0.58652	0.32;0.32;0.32;0.32	5.55	3.66	0.41972	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.236035	0.30109	N	0.010396	T	0.59142	0.2172	L	0.36672	1.1	0.80722	D	1	D;B	0.71674	0.998;0.359	P;B	0.58660	0.843;0.142	T	0.58612	-0.7606	10	0.62326	D	0.03	.	8.7818	0.34795	0.0:0.8126:0.0:0.1874	.	783;783	Q05707-2;Q05707	.;COEA1_HUMAN	M	783;783;688;596	ENSP00000311809:T783M;ENSP00000297848:T783M;ENSP00000247781:T688M;ENSP00000409461:T596M	ENSP00000247781:T688M	T	+	2	0	COL14A1	121313037	1.000000	0.71417	1.000000	0.80357	0.740000	0.42216	0.599000	0.24089	0.640000	0.30582	-0.367000	0.07326	ACG		0.443	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110	Missense_Mutation	T	121243856	C	T	121243856	5	4	691	1	0	0	0	0	0	0	1	0	3673	550	19	1	2418	1	COL14A1	8	121243856	Splice_Site	SNP	C	TCGA-J7-A8I2-01A-12D-A35Z-10		121243856	25120166	23	38206											
EPPK1	83481	hgsc.bcm.edu	37	8	144946578	144946578	+	Nonsense_Mutation	SNP	C	C	A			TCGA-J7-A8I2-01A-12D-A35Z-10	TCGA-J7-A8I2-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9aace64d-14b2-435a-ab63-3891e2ae6bca	643d9c03-6b50-48da-aab4-0d369ca2392c	g.chr8:144946578C>A	ENST00000525985.1	-	2	915	c.844G>T	c.(844-846)Gag>Tag	p.E282*				P58107	EPIPL_HUMAN	epiplakin 1	282						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)			CCGGTACCCTCCAGGTAGCGC	0.687																																																0													20	26	24					8																	144946578		2160	4242	6402	SO:0001587	stop_gained	83481			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.844G>T	chr8.hg19:g.144946578C>A	ENSP00000436337:p.Glu282*		Q76E58|Q9NSU9	Nonsense_Mutation	SNP	ENST00000525985.1	hg19		.	.	.	.	.	.	.	.	.	.	C	18.67	3.673779	0.67928	.	.	ENSG00000227184	ENST00000525985	.	.	.	4.81	-0.522	0.11928	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	.	11.5156	0.50520	0.0:0.2877:0.6244:0.0879	.	.	.	.	X	282	.	ENSP00000436337:E282X	E	-	1	0	EPPK1	145018566	0.000000	0.05858	0.799000	0.32177	0.177000	0.22998	-0.810000	0.04505	-0.304000	0.08843	0.511000	0.50034	GAG		0.687	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		A	144946578	C	A	144946578	4	1	691	1	0	0	0	0	0	1	0	0	5192	864	30	4	6422	4	EPPK1	8	144946578	Nonsense_Mutation	SNP	C	TCGA-J7-A8I2-01A-12D-A35Z-10	23702722	144946578	1417444	24	38207											
HKDC1	80201	hgsc.bcm.edu	37	10	71010157	71010157	+	Missense_Mutation	SNP	T	T	C			TCGA-J7-A8I2-01A-12D-A35Z-10	TCGA-J7-A8I2-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9aace64d-14b2-435a-ab63-3891e2ae6bca	643d9c03-6b50-48da-aab4-0d369ca2392c	g.chr10:71010157T>C	ENST00000354624.5	+	11	1815	c.1682T>C	c.(1681-1683)aTc>aCc	p.I561T	HKDC1_ENST00000395086.2_Missense_Mutation_p.I561T	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	561	Hexokinase type-1 2.				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						ATCTTCGCCATCCCCCTGGAG	0.592																																																0													114	99	104					10																	71010157		2203	4300	6503	SO:0001583	missense	80201				CCDS7288.1	10q22.1	2006-10-24			ENSG00000156510	ENSG00000156510			23302	protein-coding gene	gene with protein product						12477932	Standard	NM_025130		Approved	FLJ37767, FLJ22761	uc001jpf.4	Q2TB90	OTTHUMG00000018371	ENST00000354624.5:c.1682T>C	chr10.hg19:g.71010157T>C	ENSP00000346643:p.Ile561Thr		B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Missense_Mutation	SNP	ENST00000354624.5	hg19	CCDS7288.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.417035	0.83449	.	.	ENSG00000156510	ENST00000354624;ENST00000395087;ENST00000395086	D;D	0.98717	-5.09;-5.09	4.98	4.98	0.66077	Hexokinase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99217	0.9728	M	0.90542	3.125	0.54753	D	0.999989	P	0.48230	0.907	D	0.69479	0.964	D	0.99075	1.0835	10	0.72032	D	0.01	-20.7428	14.8099	0.69985	0.0:0.0:0.0:1.0	.	561	Q2TB90	HKDC1_HUMAN	T	561	ENSP00000346643:I561T;ENSP00000378521:I561T	ENSP00000346643:I561T	I	+	2	0	HKDC1	70680163	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.831000	0.86748	2.090000	0.63153	0.459000	0.35465	ATC		0.592	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048389.1	NM_025130		C	71010157	T	C	71010157	3	2	691	1	0	0	0	0	1	0	0	0	7195	1435	50	3	1724	3	HKDC1	10	71010157	Missense_Mutation	SNP	T	TCGA-J7-A8I2-01A-12D-A35Z-10		71010157	64524590	25	38208											
USP47	55031	hgsc.bcm.edu	37	11	11971443	11971443	+	Missense_Mutation	SNP	A	A	G			TCGA-J7-A8I2-01A-12D-A35Z-10	TCGA-J7-A8I2-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9aace64d-14b2-435a-ab63-3891e2ae6bca	643d9c03-6b50-48da-aab4-0d369ca2392c	g.chr11:11971443A>G	ENST00000399455.2	+	24	3536	c.3416A>G	c.(3415-3417)aAg>aGg	p.K1139R	USP47_ENST00000539466.1_5'UTR|USP47_ENST00000527733.1_Missense_Mutation_p.K1119R|USP47_ENST00000339865.5_Missense_Mutation_p.K1051R	NM_001282659.1	NP_001269588.1	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	1139					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)		TAGCCATGCAAGTTTCTGCTA	0.323																																																0													113	102	105					11																	11971443		1857	4090	5947	SO:0001583	missense	55031			AK027362	CCDS41619.1, CCDS60725.1	11p15.2	2008-02-05	2005-08-08		ENSG00000170242	ENSG00000170242		"Ubiquitin-specific peptidases"	20076	protein-coding gene	gene with protein product		614460	"Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)", "ubiquitin specific protease 47"			12838346	Standard	XM_005252997		Approved		uc001mjr.3	Q96K76	OTTHUMG00000165685	ENST00000399455.2:c.3416A>G	chr11.hg19:g.11971443A>G	ENSP00000382382:p.Lys1139Arg		B3KXF5|E9PM46|Q658U0|Q86Y73|Q8TEP6|Q9BWI0|Q9NWN1	Missense_Mutation	SNP	ENST00000399455.2	hg19		.	.	.	.	.	.	.	.	.	.	A	12.79	2.044265	0.36085	.	.	ENSG00000170242	ENST00000339865;ENST00000527733;ENST00000399455	D;D;D	0.94687	-3.49;-3.49;-3.49	5.37	4.22	0.49857	.	0.045749	0.85682	D	0.000000	D	0.94873	0.8343	L	0.40543	1.245	0.80722	D	1	D;D	0.63880	0.993;0.974	D;D	0.70935	0.971;0.969	D	0.94365	0.7591	10	0.51188	T	0.08	.	11.5397	0.50659	0.9251:0.0:0.0749:0.0	.	1119;1051	E9PM46;Q96K76-2	.;.	R	1051;1119;1139	ENSP00000339957:K1051R;ENSP00000433146:K1119R;ENSP00000382382:K1139R	ENSP00000339957:K1051R	K	+	2	0	USP47	11928019	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.423000	0.80229	2.138000	0.66242	0.533000	0.62120	AAG		0.323	USP47-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000385853.2	NM_017944		G	11971443	A	G	11971443	3	3	691	1	0	0	0	0	1	0	0	0	17083	72	3	3	3238	3	USP47	11	11971443	Missense_Mutation	SNP	A	TCGA-J7-A8I2-01A-12D-A35Z-10		11971443	123035073	26	38209											
SLC22A24	283238	hgsc.bcm.edu	37	11	62911071	62911071	+	Missense_Mutation	SNP	C	C	T			TCGA-J7-A8I2-01A-12D-A35Z-10	TCGA-J7-A8I2-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9aace64d-14b2-435a-ab63-3891e2ae6bca	643d9c03-6b50-48da-aab4-0d369ca2392c	g.chr11:62911071C>T	ENST00000417740.1	-	1	622	c.181G>A	c.(181-183)Gac>Aac	p.D61N	SLC22A10_ENST00000525620.1_Intron|SLC22A24_ENST00000326192.5_Missense_Mutation_p.D61N	NM_001136506.2	NP_001129978.2	Q8N4F4	S22AO_HUMAN	solute carrier family 22, member 24	61					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				kidney(1)|stomach(1)	2						GTATCATTGTCAGACACAGTG	0.517																																																0													109	108	108					11																	62911071		692	1591	2283	SO:0001583	missense	283238				CCDS73308.1	11q12.3	2013-05-22			ENSG00000197658	ENSG00000197658		"Solute carriers"	28542	protein-coding gene	gene with protein product		611698				17714910	Standard	NM_001136506		Approved	MGC34821, NET46	uc021qkp.1	Q8N4F4	OTTHUMG00000165372	ENST00000417740.1:c.181G>A	chr11.hg19:g.62911071C>T	ENSP00000396586:p.Asp61Asn			Missense_Mutation	SNP	ENST00000417740.1	hg19		.	.	.	.	.	.	.	.	.	.	C	2.174	-0.389127	0.04932	.	.	ENSG00000197658	ENST00000417740;ENST00000531535;ENST00000326192	T;T	0.34859	1.34;1.34	2.29	-0.153	0.13403	.	2.737860	0.02513	N	0.091716	T	0.31638	0.0803	L	0.42686	1.345	0.09310	N	1	B	0.23442	0.085	B	0.23852	0.049	T	0.19549	-1.0302	10	0.17832	T	0.49	.	9.282	0.37733	0.0:0.5823:0.4177:0.0	.	61	C9JC66	.	N	61	ENSP00000396586:D61N;ENSP00000321549:D61N	ENSP00000321549:D61N	D	-	1	0	SLC22A24	62667647	0.000000	0.05858	0.024000	0.17045	0.632000	0.37999	-0.569000	0.05902	0.298000	0.22638	-0.890000	0.02929	GAC		0.517	SLC22A24-003	PUTATIVE	non_canonical_polymorphism|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000383747.1	NM_173586		T	62911071	C	T	62911071	3	4	691	1	0	0	0	0	1	0	0	0	14459	826	29	2	1512	2	SLC22A24	11	62911071	Missense_Mutation	SNP	C	TCGA-J7-A8I2-01A-12D-A35Z-10	50939628	62911071	72095445	27	38210											
KLC2	64837	hgsc.bcm.edu	37	11	66026154	66026155	+	Frame_Shift_Del	DEL	CT	CT	-	rs546719017		TCGA-J7-A8I2-01A-12D-A35Z-10	TCGA-J7-A8I2-10A-01D-A35Z-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9aace64d-14b2-435a-ab63-3891e2ae6bca	643d9c03-6b50-48da-aab4-0d369ca2392c	g.chr11:66026154_66026155delCT	ENST00000417856.1	+	2	332_333	c.89_90delCT	c.(88-90)actfs	p.T30fs	KLC2_ENST00000421552.1_Frame_Shift_Del_p.T30fs|KLC2_ENST00000394067.2_Frame_Shift_Del_p.T30fs|KLC2_ENST00000394065.2_5'Flank|KLC2_ENST00000316924.5_Frame_Shift_Del_p.T30fs|RP11-755F10.3_ENST00000533576.1_RNA|KLC2_ENST00000394066.2_Frame_Shift_Del_p.T30fs|KLC2_ENST00000394078.1_Frame_Shift_Del_p.T30fs	NM_001134775.1	NP_001128247.1	Q9H0B6	KLC2_HUMAN	kinesin light chain 2	30					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon cargo transport (GO:0008088)|blood coagulation (GO:0007596)|microtubule-based movement (GO:0007018)	ciliary rootlet (GO:0035253)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinesin I complex (GO:0016938)|membrane (GO:0016020)|microtubule (GO:0005874)|neuron projection (GO:0043005)|protein complex (GO:0043234)	kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						GGACTGGAGACTCTGCGTGGGG	0.653											OREG0021097	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0																																										SO:0001589	frameshift_variant	64837			AK022449	CCDS8130.1, CCDS44653.1	11q13.1	2013-01-10			ENSG00000174996	ENSG00000174996		"Tetratricopeptide (TTC) repeat domain containing"	20716	protein-coding gene	gene with protein product		611729				9624122	Standard	NM_022822		Approved	FLJ12387	uc001ohb.2	Q9H0B6	OTTHUMG00000133757	ENST00000417856.1:c.89_90delCT	chr11.hg19:g.66026156_66026157delCT	ENSP00000399403:p.Thr30fs	1088	A8MXL7|B2RDY4|Q9H9C8|Q9HA20	Frame_Shift_Del	DEL	ENST00000417856.1	hg19	CCDS8130.1																																																																																				0.653	KLC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258200.1	NM_022822		-	66026155	CT	-	66026154	7	5	691	1	0	1	0	1	0	0	0	0	8336	565	20	0	91	0	KLC2	11	66026154	Frame_Shift_Del	DEL	CT	TCGA-J7-A8I2-01A-12D-A35Z-10	3115083	66026154	68980362	28	38211											
NPAS4	266743	hgsc.bcm.edu	37	11	66190272	66190272	+	Silent	SNP	C	C	T	rs569596792		TCGA-J7-A8I2-01A-12D-A35Z-10	TCGA-J7-A8I2-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9aace64d-14b2-435a-ab63-3891e2ae6bca	643d9c03-6b50-48da-aab4-0d369ca2392c	g.chr11:66190272C>T	ENST00000311034.2	+	4	734	c.558C>T	c.(556-558)ccC>ccT	p.P186P		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	186					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						CAGGAAATCCCGTGTTCACAG	0.637																																																0													104	102	103					11																	66190272		2200	4295	6495	SO:0001819	synonymous_variant	266743			AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"Basic helix-loop-helix proteins"	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.558C>T	chr11.hg19:g.66190272C>T			B7ZL81|Q8N8S5|Q8N9Q9	Silent	SNP	ENST00000311034.2	hg19	CCDS8138.1																																																																																				0.637	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	NM_178864		T	66190272	C	T	66190272	2	4	691	1	0	0	0	0	0	0	0	1	10567	639	23	1		1	NPAS4	11	66190272	Silent	SNP	C	TCGA-J7-A8I2-01A-12D-A35Z-10	164118	66190272	68816244	29	38212											
YAP1	10413	hgsc.bcm.edu	37	11	102033201	102033201	+	Missense_Mutation	SNP	C	C	T			TCGA-J7-A8I2-01A-12D-A35Z-10	TCGA-J7-A8I2-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9aace64d-14b2-435a-ab63-3891e2ae6bca	643d9c03-6b50-48da-aab4-0d369ca2392c	g.chr11:102033201C>T	ENST00000282441.5	+	3	975	c.587C>T	c.(586-588)aCa>aTa	p.T196I	YAP1_ENST00000524575.1_Missense_Mutation_p.T18I|YAP1_ENST00000531439.1_Missense_Mutation_p.T196I|YAP1_ENST00000345877.2_Missense_Mutation_p.T196I|YAP1_ENST00000526343.1_Missense_Mutation_p.T196I|YAP1_ENST00000537274.1_Missense_Mutation_p.T196I	NM_001130145.2|NM_001282101.1	NP_001123617.1|NP_001269030.1	P46937	YAP1_HUMAN	Yes-associated protein 1	196	WW 1. {ECO:0000255|PROSITE- ProRule:PRU00224}.				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)		ATCGATCAGACAACAACATGG	0.473																																					Colon(50;247 1103 7861 28956)											0													184	181	182					11																	102033201		2203	4299	6502	SO:0001583	missense	10413				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.587C>T	chr11.hg19:g.102033201C>T	ENSP00000282441:p.Thr196Ile		B4DTY1|B7ZA01|E3WEB5|E3WEB6|E9PRV2|F5H202|K0KQ18|K0KYZ8|K0L195|K0L1G3|Q7Z574|Q8IUY9	Missense_Mutation	SNP	ENST00000282441.5	hg19	CCDS44716.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.791911	0.50102	.	.	ENSG00000137693	ENST00000526343;ENST00000282441;ENST00000537274;ENST00000345877;ENST00000445250;ENST00000531439;ENST00000524575	D;D;D;D;D;T	0.83837	-1.77;-1.77;-1.77;-1.77;-1.77;0.86	5.59	5.59	0.84812	WW/Rsp5/WWP (6);	0.000000	0.85682	D	0.000000	D	0.84483	0.5482	L	0.37750	1.13	0.80722	D	1	P;B;B;P;D	0.61080	0.915;0.151;0.167;0.822;0.989	P;B;B;P;P	0.53450	0.653;0.129;0.053;0.494;0.726	D	0.84620	0.0683	10	0.48119	T	0.1	.	19.5866	0.95492	0.0:1.0:0.0:0.0	.	111;196;196;196;196	F5GWC5;E9PRV2;P46937-2;P46937;P46937-3	.;.;.;YAP1_HUMAN;.	I	196;196;196;196;111;196;18	ENSP00000434134:T196I;ENSP00000282441:T196I;ENSP00000445635:T196I;ENSP00000331023:T196I;ENSP00000431574:T196I;ENSP00000435602:T18I	ENSP00000282441:T196I	T	+	2	0	YAP1	101538411	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.463000	0.73530	2.620000	0.88729	0.555000	0.69702	ACA		0.473	YAP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394151.1	NM_006106		T	102033201	C	T	102033201	3	4	691	1	0	0	0	0	1	0	0	0	17471	478	17	2	597	2	YAP1	11	102033201	Missense_Mutation	SNP	C	TCGA-J7-A8I2-01A-12D-A35Z-10	35842929	102033201	32973315	30	38213											
SH2B3	10019	hgsc.bcm.edu	37	12	111885593	111885593	+	Missense_Mutation	SNP	G	G	A			TCGA-J7-A8I2-01A-12D-A35Z-10	TCGA-J7-A8I2-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9aace64d-14b2-435a-ab63-3891e2ae6bca	643d9c03-6b50-48da-aab4-0d369ca2392c	g.chr12:111885593G>A	ENST00000341259.2	+	7	1727	c.1370G>A	c.(1369-1371)cGg>cAg	p.R457Q	SH2B3_ENST00000538307.1_Missense_Mutation_p.R255Q	NM_005475.2	NP_005466.1	Q9UQQ2	SH2B3_HUMAN	SH2B adaptor protein 3	457	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)	TGTGATGTCCGGCTCTCCAGC	0.632																																																0													69	61	64					12																	111885593		2203	4300	6503	SO:0001583	missense	10019			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.1370G>A	chr12.hg19:g.111885593G>A	ENSP00000345492:p.Arg457Gln		B9EGG5|O95184	Missense_Mutation	SNP	ENST00000341259.2	hg19	CCDS9153.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.577538	0.45902	.	.	ENSG00000111252	ENST00000341259;ENST00000551001;ENST00000538307	T;T	0.53857	0.6;0.6	4.96	3.81	0.43845	SH2 motif (1);	0.405045	0.26251	N	0.025457	T	0.26666	0.0652	N	0.08118	0	0.32839	D	0.505132	B;B;B	0.31351	0.123;0.222;0.32	B;B;B	0.28465	0.04;0.013;0.09	T	0.28618	-1.0038	10	0.26408	T	0.33	.	7.2579	0.26187	0.2705:0.0:0.7295:0.0	.	255;321;457	F5GYM4;Q59H48;Q9UQQ2	.;.;SH2B3_HUMAN	Q	457;267;255	ENSP00000345492:R457Q;ENSP00000440597:R255Q	ENSP00000345492:R457Q	R	+	2	0	SH2B3	110369976	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	3.131000	0.50515	2.474000	0.83562	0.462000	0.41574	CGG		0.632	SH2B3-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000404779.1	NM_005475		A	111885593	G	A	111885593	3	1	691	1	0	0	0	0	1	0	0	0	14235	1116	39	1	1392	1	SH2B3	12	111885593	Missense_Mutation	SNP	G	TCGA-J7-A8I2-01A-12D-A35Z-10		111885593	21966302	31	38214											
C12orf51	283450	hgsc.bcm.edu	37	12	112607423	112607423	+	Missense_Mutation	SNP	G	G	C			TCGA-J7-A8I2-01A-12D-A35Z-10	TCGA-J7-A8I2-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9aace64d-14b2-435a-ab63-3891e2ae6bca	643d9c03-6b50-48da-aab4-0d369ca2392c	g.chr12:112607423G>C	ENST00000430131.2	-	69	11971	c.10826C>G	c.(10825-10827)gCt>gGt	p.A3609G	HECTD4_ENST00000550722.1_Missense_Mutation_p.A3885G|HECTD4_ENST00000377560.5_Missense_Mutation_p.A3859G			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3609					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)										CTGCCTGGCAGCCTGACAGAA	0.602																																																0													46	53	50					12																	112607423		2042	4189	6231	SO:0001583	missense	283450			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.10826C>G	chr12.hg19:g.112607423G>C	ENSP00000404379:p.Ala3609Gly		L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	hg19		.	.	.	.	.	.	.	.	.	.	G	33	5.232023	0.95207	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722;ENST00000547085	T;T;T	0.50813	0.73;0.74;0.73	5.88	5.88	0.94601	.	.	.	.	.	T	0.58192	0.2105	N	0.24115	0.695	0.58432	D	0.999999	D	0.58970	0.984	D	0.68192	0.956	T	0.61197	-0.7111	9	0.87932	D	0	.	20.2207	0.98324	0.0:0.0:1.0:0.0	.	3609	Q9Y4D8	K0614_HUMAN	G	3859;3609;3885;74	ENSP00000366783:A3859G;ENSP00000404379:A3609G;ENSP00000449784:A3885G	ENSP00000366783:A3859G	A	-	2	0	C12orf51	111091806	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.240000	0.95396	2.790000	0.95986	0.591000	0.81541	GCT		0.602	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		C	112607423	G	C	112607423	3	2	691	1	0	0	0	0	1	0	0	0	1698	971	34	4	1192	4	C12orf51	12	112607423	Missense_Mutation	SNP	G	TCGA-J7-A8I2-01A-12D-A35Z-10	721830	112607423	21244472	32	38215											
LPAR6	10161	hgsc.bcm.edu	37	13	48985593	48985593	+	Missense_Mutation	SNP	C	C	T			TCGA-J7-A8I2-01A-12D-A35Z-10	TCGA-J7-A8I2-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9aace64d-14b2-435a-ab63-3891e2ae6bca	643d9c03-6b50-48da-aab4-0d369ca2392c	g.chr13:48985593C>T	ENST00000378434.4	-	7	2591	c.967G>A	c.(967-969)Gag>Aag	p.E323K	LPAR6_ENST00000345941.2_Missense_Mutation_p.E323K|RB1_ENST00000267163.4_Intron	NM_005767.5	NP_005758.2	P43657	LPAR6_HUMAN	lysophosphatidic acid receptor 6	323						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.0?(15)|p.?(4)		NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	14						ATAAAATTCTCTGCACCATGA	0.358																																																19	Whole gene deletion(15)|Unknown(4)	bone(10)|breast(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)											79	85	83					13																	48985593		2203	4300	6503	SO:0001583	missense	10161			AF000546	CCDS9410.1	13q14	2012-08-08	2009-06-23	2009-06-23	ENSG00000139679	ENSG00000139679		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	15520	protein-coding gene	gene with protein product		609239	"purinergic receptor P2Y, G-protein coupled, 5"	P2RY5		11004484, 9755289, 19386608	Standard	NM_005767		Approved	P2Y5	uc010acu.3	P43657	OTTHUMG00000016895	ENST00000378434.4:c.967G>A	chr13.hg19:g.48985593C>T	ENSP00000367691:p.Glu323Lys		A4FTW9|B3KVF2|F2YGU4|O15133|Q3KPF5|Q53FA0|Q5VW44|Q7Z3S0|Q7Z3S6	Missense_Mutation	SNP	ENST00000378434.4	hg19	CCDS9410.1	.	.	.	.	.	.	.	.	.	.	C	14.07	2.426889	0.43020	.	.	ENSG00000139679	ENST00000378434;ENST00000345941	T;T	0.63913	-0.07;-0.07	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.38772	0.1053	N	0.08118	0	0.49687	D	0.999819	P	0.34562	0.457	B	0.27608	0.081	T	0.44544	-0.9321	10	0.06236	T	0.91	.	19.6656	0.95891	0.0:1.0:0.0:0.0	.	323	P43657	LPAR6_HUMAN	K	323	ENSP00000367691:E323K;ENSP00000344353:E323K	ENSP00000344353:E323K	E	-	1	0	LPAR6	47883594	1.000000	0.71417	0.971000	0.41717	0.477000	0.33069	7.445000	0.80570	2.713000	0.92767	0.455000	0.32223	GAG		0.358	LPAR6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276280.2	NM_005767		T	48985593	C	T	48985593	3	4	691	1	0	0	0	0	1	0	0	0	8911	922	32	2	71	2	LPAR6	13	48985593	Missense_Mutation	SNP	C	TCGA-J7-A8I2-01A-12D-A35Z-10		48985593	66184285	33	38216											
DZIP1	22873	hgsc.bcm.edu	37	13	96264392	96264392	+	Missense_Mutation	SNP	C	C	G			TCGA-J7-A8I2-01A-12D-A35Z-10	TCGA-J7-A8I2-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9aace64d-14b2-435a-ab63-3891e2ae6bca	643d9c03-6b50-48da-aab4-0d369ca2392c	g.chr13:96264392C>G	ENST00000376829.2	-	11	2064	c.1213G>C	c.(1213-1215)Gat>Cat	p.D405H	DZIP1_ENST00000361156.3_Missense_Mutation_p.D405H|DZIP1_ENST00000347108.3_Missense_Mutation_p.D405H|DZIP1_ENST00000361396.2_Missense_Mutation_p.D405H	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	405					cilium assembly (GO:0042384)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			tttagatcatctatcattgAG	0.393																																																0													132	127	129					13																	96264392		2203	4300	6503	SO:0001583	missense	22873			AB023213	CCDS9477.1, CCDS9478.1	13q32.1	2013-05-22	2013-05-22		ENSG00000134874	ENSG00000134874		"Zinc fingers, C2H2-type"	20908	protein-coding gene	gene with protein product		608671	"DAZ interacting protein 1"				Standard	NM_014934		Approved	KIAA0996, DZIP	uc001vmk.4	Q86YF9	OTTHUMG00000017224	ENST00000376829.2:c.1213G>C	chr13.hg19:g.96264392C>G	ENSP00000366025:p.Asp405His		Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Missense_Mutation	SNP	ENST00000376829.2	hg19	CCDS9478.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.309415	0.60414	.	.	ENSG00000134874	ENST00000347108;ENST00000361156;ENST00000361396;ENST00000376829	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.88	5.03	0.67393	.	0.467342	0.23349	N	0.049157	T	0.43743	0.1261	L	0.47716	1.5	0.28469	N	0.915509	D;P	0.53151	0.958;0.855	P;B	0.48627	0.584;0.38	T	0.43426	-0.9392	10	0.59425	D	0.04	-3.0786	11.3767	0.49733	0.0:0.914:0.0:0.086	.	405;405	Q86YF9-2;Q86YF9	.;DZIP1_HUMAN	H	405	ENSP00000257312:D405H;ENSP00000355018:D405H;ENSP00000355175:D405H;ENSP00000366025:D405H	ENSP00000257312:D405H	D	-	1	0	DZIP1	95062393	0.996000	0.38824	0.977000	0.42913	0.780000	0.44128	1.178000	0.31981	1.458000	0.47871	0.655000	0.94253	GAT		0.393	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045496.3	NM_014934		G	96264392	C	G	96264392	3	3	691	1	0	0	0	0	1	0	0	0	4865	913	32	4	1442	4	DZIP1	13	96264392	Missense_Mutation	SNP	C	TCGA-J7-A8I2-01A-12D-A35Z-10	47278799	96264392	18905486	34	38217											
SIX1	6495	hgsc.bcm.edu	37	14	61115779	61115780	+	Frame_Shift_Ins	INS	-	-	A			TCGA-J7-A8I2-01A-12D-A35Z-10	TCGA-J7-A8I2-10A-01D-A35Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9aace64d-14b2-435a-ab63-3891e2ae6bca	643d9c03-6b50-48da-aab4-0d369ca2392c	g.chr14:61115779_61115780insA	ENST00000247182.6	-	1	400_401	c.128_129insT	c.(127-129)ctgfs	p.L43fs	SIX1_ENST00000554986.1_Intron	NM_005982.3	NP_005973.1	Q15475	SIX1_HUMAN	SIX homeobox 1	43					aorta morphogenesis (GO:0035909)|apoptotic process (GO:0006915)|branching involved in ureteric bud morphogenesis (GO:0001658)|cochlea morphogenesis (GO:0090103)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic skeletal system morphogenesis (GO:0048704)|epithelial cell differentiation (GO:0030855)|facial nerve morphogenesis (GO:0021610)|generation of neurons (GO:0048699)|inner ear development (GO:0048839)|inner ear morphogenesis (GO:0042472)|kidney development (GO:0001822)|mesonephric tubule formation (GO:0072172)|metanephric mesenchyme development (GO:0072075)|middle ear morphogenesis (GO:0042474)|myoblast migration (GO:0051451)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|organ induction (GO:0001759)|otic vesicle development (GO:0071599)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|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)|positive regulation of ureteric bud formation (GO:0072107)|protein localization to nucleus (GO:0034504)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of neuron differentiation (GO:0045664)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0201)		CGTTCTTGTGCAGGTGGTCGCA	0.634																																																0																																										SO:0001589	frameshift_variant	6495			X91868	CCDS9748.1	14q23.1	2011-06-20	2007-07-13		ENSG00000126778	ENSG00000126778		"Homeoboxes / SINE class"	10887	protein-coding gene	gene with protein product		601205	"sine oculis homeobox (Drosophila) homolog 1", "sine oculis homeobox homolog 1 (Drosophila)", "deafness, autosomal dominant 23"	DFNA23		8617500, 15141091	Standard	NM_005982		Approved		uc001xfb.4	Q15475	OTTHUMG00000140334	ENST00000247182.6:c.129dupT	chr14.hg19:g.61115780_61115780dupA	ENSP00000247182:p.Leu43fs		Q53Y16|Q96H64	Frame_Shift_Ins	INS	ENST00000247182.6	hg19	CCDS9748.1																																																																																				0.634	SIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276951.3			A	61115780	-	A	61115779	7	5	691	1	0	1	1	0	0	0	0	0	14352	697	25	0	733	0	SIX1	14	61115779	Frame_Shift_Ins	INS	-	TCGA-J7-A8I2-01A-12D-A35Z-10		61115779	46233761	35	38218											
HIF1A	3091	hgsc.bcm.edu	37	14	62213681	62213681	+	Missense_Mutation	SNP	A	A	G			TCGA-J7-A8I2-01A-12D-A35Z-10	TCGA-J7-A8I2-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9aace64d-14b2-435a-ab63-3891e2ae6bca	643d9c03-6b50-48da-aab4-0d369ca2392c	g.chr14:62213681A>G	ENST00000337138.4	+	15	2624	c.2359A>G	c.(2359-2361)Atg>Gtg	p.M787V	HIF1A-AS2_ENST00000554254.1_lincRNA|RP11-618G20.1_ENST00000555937.1_RNA|HIF1A_ENST00000394997.1_Missense_Mutation_p.M788V|HIF1A_ENST00000539097.1_Missense_Mutation_p.M811V|HIF1A_ENST00000323441.6_3'UTR|HIF1A_ENST00000557538.1_Missense_Mutation_p.M728V	NM_001530.3	NP_001521.1	Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	787	CTAD.				angiogenesis (GO:0001525)|axon transport of mitochondrion (GO:0019896)|B-1 B cell homeostasis (GO:0001922)|cardiac ventricle morphogenesis (GO:0003208)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cerebral cortex development (GO:0021987)|collagen metabolic process (GO:0032963)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|digestive tract morphogenesis (GO:0048546)|dopaminergic neuron differentiation (GO:0071542)|elastin metabolic process (GO:0051541)|embryonic hemopoiesis (GO:0035162)|embryonic placenta development (GO:0001892)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial to mesenchymal transition (GO:0001837)|glucose homeostasis (GO:0042593)|heart looping (GO:0001947)|hemoglobin biosynthetic process (GO:0042541)|intestinal epithelial cell maturation (GO:0060574)|lactate metabolic process (GO:0006089)|lactation (GO:0007595)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of bone mineralization (GO:0030502)|negative regulation of growth (GO:0045926)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of TOR signaling (GO:0032007)|neural crest cell migration (GO:0001755)|neural fold elevation formation (GO:0021502)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|oxygen homeostasis (GO:0032364)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine production (GO:0032722)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|vascular endothelial growth factor production (GO:0010573)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|Hsp90 protein binding (GO:0051879)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	Carvedilol(DB01136)	GGGGCAATCAATGGATGAAAG	0.378																																																0													176	166	169					14																	62213681		2203	4300	6503	SO:0001583	missense	3091			U22431	CCDS9753.1, CCDS9754.1, CCDS58324.1	14q23.2	2013-05-21	2008-12-02		ENSG00000100644	ENSG00000100644		"Basic helix-loop-helix proteins"	4910	protein-coding gene	gene with protein product		603348				8786149, 9079689	Standard	NM_001530		Approved	MOP1, HIF-1alpha, PASD8, HIF1, bHLHe78	uc001xfq.2	Q16665	OTTHUMG00000140344	ENST00000337138.4:c.2359A>G	chr14.hg19:g.62213681A>G	ENSP00000338018:p.Met787Val		C0LZJ3|Q53XP6|Q96PT9|Q9UPB1	Missense_Mutation	SNP	ENST00000337138.4	hg19	CCDS9753.1	.	.	.	.	.	.	.	.	.	.	A	7.232	0.599557	0.13939	.	.	ENSG00000100644	ENST00000539494;ENST00000394988;ENST00000337138;ENST00000394997;ENST00000557538;ENST00000539097	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.61	4.44	0.53790	HIF-1 alpha, transactivation domain, C-terminal (1);	0.904790	0.09913	N	0.739514	T	0.25827	0.0629	N	0.08118	0	0.33434	D	0.581479	B;B	0.16802	0.019;0.019	B;B	0.24701	0.055;0.055	T	0.28332	-1.0047	10	0.41790	T	0.15	.	8.144	0.31100	0.7257:0.1403:0.0:0.134	.	788;787	A8MYV6;Q16665	.;HIF1A_HUMAN	V	538;728;787;788;728;811	ENSP00000338018:M787V;ENSP00000378446:M788V;ENSP00000451696:M728V;ENSP00000437955:M811V	ENSP00000338018:M787V	M	+	1	0	HIF1A	61283434	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.513000	0.45494	1.028000	0.39785	0.533000	0.62120	ATG		0.378	HIF1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276977.2	NM_001530		G	62213681	A	G	62213681	3	3	691	1	0	0	0	0	1	0	0	0	7105	101	4	3	2417	3	HIF1A	14	62213681	Missense_Mutation	SNP	A	TCGA-J7-A8I2-01A-12D-A35Z-10	1097902	62213681	45135859	36	38219											
TRPM7	54822	hgsc.bcm.edu	37	15	50866612	50866612	+	Missense_Mutation	SNP	T	T	C			TCGA-J7-A8I2-01A-12D-A35Z-10	TCGA-J7-A8I2-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9aace64d-14b2-435a-ab63-3891e2ae6bca	643d9c03-6b50-48da-aab4-0d369ca2392c	g.chr15:50866612T>C	ENST00000313478.7	-	36	5448	c.5167A>G	c.(5167-5169)Atg>Gtg	p.M1723V	TRPM7_ENST00000561443.1_5'UTR|TRPM7_ENST00000560955.1_Missense_Mutation_p.M1722V	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	1723	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TCTCCAGTCATACATTCTTCC	0.348																																																0													60	57	58					15																	50866612		1807	4073	5880	SO:0001583	missense	54822			AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"Voltage-gated ion channels / Transient receptor potential cation channels"	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.5167A>G	chr15.hg19:g.50866612T>C	ENSP00000320239:p.Met1723Val		Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Missense_Mutation	SNP	ENST00000313478.7	hg19	CCDS42035.1	.	.	.	.	.	.	.	.	.	.	T	13.62	2.292013	0.40594	.	.	ENSG00000092439	ENST00000313478	T	0.13657	2.57	4.98	4.98	0.66077	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.044676	0.85682	D	0.000000	T	0.14614	0.0353	L	0.37630	1.12	0.45295	D	0.998291	B	0.30193	0.272	B	0.33196	0.159	T	0.04320	-1.0960	10	0.87932	D	0	-18.4568	14.8475	0.70270	0.0:0.0:0.0:1.0	.	1723	Q96QT4	TRPM7_HUMAN	V	1723	ENSP00000320239:M1723V	ENSP00000320239:M1723V	M	-	1	0	TRPM7	48653904	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.942000	0.70203	2.074000	0.62210	0.528000	0.53228	ATG		0.348	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1	NM_017672		C	50866612	T	C	50866612	3	2	691	1	0	0	0	0	1	0	0	0	16596	1406	49	3	446	3	TRPM7	15	50866612	Missense_Mutation	SNP	T	TCGA-J7-A8I2-01A-12D-A35Z-10		50866612	51664780	37	38220											
TRPM7	54822	hgsc.bcm.edu	37	15	50904864	50904864	+	Missense_Mutation	SNP	C	C	A			TCGA-J7-A8I2-01A-12D-A35Z-10	TCGA-J7-A8I2-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9aace64d-14b2-435a-ab63-3891e2ae6bca	643d9c03-6b50-48da-aab4-0d369ca2392c	g.chr15:50904864C>A	ENST00000313478.7	-	16	2214	c.1933G>T	c.(1933-1935)Ggt>Tgt	p.G645C	TRPM7_ENST00000560955.1_Missense_Mutation_p.G645C	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	645					actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.G645C(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		GATTCTTCACCATGTTGCCAT	0.413																																																1	Substitution - Missense(1)	lung(1)											163	152	156					15																	50904864		1884	4115	5999	SO:0001583	missense	54822			AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"Voltage-gated ion channels / Transient receptor potential cation channels"	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.1933G>T	chr15.hg19:g.50904864C>A	ENSP00000320239:p.Gly645Cys		Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Missense_Mutation	SNP	ENST00000313478.7	hg19	CCDS42035.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.878977	0.91740	.	.	ENSG00000092439	ENST00000313478	T	0.73681	-0.77	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	D	0.87406	0.6169	M	0.87381	2.88	0.80722	D	1	D	0.67145	0.996	P	0.61940	0.896	D	0.89507	0.3768	10	0.87932	D	0	-7.094	19.1653	0.93555	0.0:1.0:0.0:0.0	.	645	Q96QT4	TRPM7_HUMAN	C	645	ENSP00000320239:G645C	ENSP00000320239:G645C	G	-	1	0	TRPM7	48692156	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.730000	0.84881	2.603000	0.88011	0.585000	0.79938	GGT		0.413	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1	NM_017672		A	50904864	C	A	50904864	3	1	691	1	0	0	0	0	1	0	0	0	16596	594	21	4	3760	4	TRPM7	15	50904864	Missense_Mutation	SNP	C	TCGA-J7-A8I2-01A-12D-A35Z-10	38252	50904864	51626528	38	38221											
SPPL2A	84888	hgsc.bcm.edu	37	15	51014331	51014331	+	Silent	SNP	C	C	T			TCGA-J7-A8I2-01A-12D-A35Z-10	TCGA-J7-A8I2-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9aace64d-14b2-435a-ab63-3891e2ae6bca	643d9c03-6b50-48da-aab4-0d369ca2392c	g.chr15:51014331C>T	ENST00000261854.5	-	13	1591	c.1317G>A	c.(1315-1317)tcG>tcA	p.S439S	SPPL2A_ENST00000559293.1_5'Flank	NM_032802.3	NP_116191.2	Q8TCT8	SPP2A_HUMAN	signal peptide peptidase like 2A	439					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)		CAACTGTAGACGAAACATAGT	0.294																																					Melanoma(50;790 1209 4069 22965 33125)											0													72	70	71					15																	51014331		2196	4294	6490	SO:0001819	synonymous_variant	84888				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.1317G>A	chr15.hg19:g.51014331C>T			B2RDS0|Q8TAW1|Q96SZ8	Silent	SNP	ENST00000261854.5	hg19	CCDS10138.1																																																																																				0.294	SPPL2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254543.3	NM_032802		T	51014331	C	T	51014331	2	4	691	1	0	0	0	0	0	0	0	1	15093	523	19	1		1	SPPL2A	15	51014331	Silent	SNP	C	TCGA-J7-A8I2-01A-12D-A35Z-10	109467	51014331	51517061	39	38222											
NEDD4	4734	hgsc.bcm.edu	37	15	56207684	56207684	+	Missense_Mutation	SNP	T	T	C			TCGA-J7-A8I2-01A-12D-A35Z-10	TCGA-J7-A8I2-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9aace64d-14b2-435a-ab63-3891e2ae6bca	643d9c03-6b50-48da-aab4-0d369ca2392c	g.chr15:56207684T>C	ENST00000508342.1	-	1	1645	c.1346A>G	c.(1345-1347)aAc>aGc	p.N449S	NEDD4_ENST00000506154.1_Missense_Mutation_p.N449S|NEDD4_ENST00000338963.2_Missense_Mutation_p.N449S|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	449					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)		AATACCATGGTTTTTGTTCAT	0.378																																																0													121	120	120					15																	56207684		2193	4292	6485	SO:0001583	missense	4734			D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"receptor-potentiating factor 1"	602278	"neural precursor cell expressed, developmentally down-regulated 4"			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.1346A>G	chr15.hg19:g.56207684T>C	ENSP00000424827:p.Asn449Ser		A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Missense_Mutation	SNP	ENST00000508342.1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.169|0.169	-1.073075|-1.073075	0.01918|0.01918	.|.	.|.	ENSG00000069869|ENSG00000069869	ENST00000508342;ENST00000338963;ENST00000506154|ENST00000508871	T;T;T|.	0.18174|.	2.24;2.23;2.24|.	5.46|5.46	-0.0555|-0.0555	0.13809|0.13809	.|.	.|.	.|.	.|.	.|.	T|T	0.36880|0.36880	0.0983|0.0983	L|L	0.47716|0.47716	1.5|1.5	0.09310|0.09310	N|N	1|1	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.06405|.	0.002;0.001;0.001|.	T|T	0.31641|0.31641	-0.9936|-0.9936	9|5	0.46703|.	T|.	0.11|.	.|.	6.7263|6.7263	0.23359|0.23359	0.0:0.28:0.1625:0.5575|0.0:0.28:0.1625:0.5575	.|.	449;449;449|.	P46934-2;P46934;P46934-3|.	.;NEDD4_HUMAN;.|.	S|A	449|57	ENSP00000424827:N449S;ENSP00000345530:N449S;ENSP00000422705:N449S|.	ENSP00000345530:N449S|.	N|T	-|-	2|1	0|0	NEDD4|NEDD4	53994976|53994976	0.533000|0.533000	0.26354|0.26354	0.362000|0.362000	0.25862|0.25862	0.881000|0.881000	0.50899|0.50899	-0.132000|-0.132000	0.10467|0.10467	0.072000|0.072000	0.16694|0.16694	0.377000|0.377000	0.23210|0.23210	AAC|ACC		0.378	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	NM_198400		C	56207684	T	C	56207684	3	2	691	1	0	0	0	0	1	0	0	0	10312	1725	60	3	2713	3	NEDD4	15	56207684	Missense_Mutation	SNP	T	TCGA-J7-A8I2-01A-12D-A35Z-10	5193353	56207684	46323708	40	38223											
HERC1	8925	hgsc.bcm.edu	37	15	63956789	63956789	+	Missense_Mutation	SNP	C	C	T			TCGA-J7-A8I2-01A-12D-A35Z-10	TCGA-J7-A8I2-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9aace64d-14b2-435a-ab63-3891e2ae6bca	643d9c03-6b50-48da-aab4-0d369ca2392c	g.chr15:63956789C>T	ENST00000443617.2	-	43	8647	c.8560G>A	c.(8560-8562)Gat>Aat	p.D2854N		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2854					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						TCCAAATTATCAGGGCTACAA	0.413																																																0													78	76	77					15																	63956789		1915	4128	6043	SO:0001583	missense	8925			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.8560G>A	chr15.hg19:g.63956789C>T	ENSP00000390158:p.Asp2854Asn		Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	hg19	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.578366	0.86645	.	.	ENSG00000103657	ENST00000443617	T	0.24151	1.87	5.79	5.79	0.91817	.	0.063428	0.64402	D	0.000010	T	0.21022	0.0506	N	0.22421	0.69	0.80722	D	1	P	0.34522	0.455	B	0.30105	0.111	T	0.02781	-1.1111	10	0.54805	T	0.06	.	20.024	0.97514	0.0:1.0:0.0:0.0	.	2854	Q15751	HERC1_HUMAN	N	2854	ENSP00000390158:D2854N	ENSP00000390158:D2854N	D	-	1	0	HERC1	61743842	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.638000	0.74309	2.718000	0.92993	0.655000	0.94253	GAT		0.413	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		T	63956789	C	T	63956789	3	4	691	1	0	0	0	0	1	0	0	0	7059	826	29	2	6169	2	HERC1	15	63956789	Missense_Mutation	SNP	C	TCGA-J7-A8I2-01A-12D-A35Z-10	7749105	63956789	38574603	41	38224											
HERC1	8925	hgsc.bcm.edu	37	15	63958332	63958332	+	Missense_Mutation	SNP	C	C	T			TCGA-J7-A8I2-01A-12D-A35Z-10	TCGA-J7-A8I2-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9aace64d-14b2-435a-ab63-3891e2ae6bca	643d9c03-6b50-48da-aab4-0d369ca2392c	g.chr15:63958332C>T	ENST00000443617.2	-	42	8428	c.8341G>A	c.(8341-8343)Gat>Aat	p.D2781N		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2781					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						TTCTGGGCATCAGCCTCTCCC	0.502																																																0													32	33	33					15																	63958332		1999	4164	6163	SO:0001583	missense	8925			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.8341G>A	chr15.hg19:g.63958332C>T	ENSP00000390158:p.Asp2781Asn		Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	hg19	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.978618	0.92982	.	.	ENSG00000103657	ENST00000443617	T	0.36340	1.26	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.52661	0.1748	L	0.40543	1.245	0.80722	D	1	D	0.63880	0.993	D	0.74674	0.984	T	0.34551	-0.9824	10	0.30078	T	0.28	.	19.8218	0.96599	0.0:1.0:0.0:0.0	.	2781	Q15751	HERC1_HUMAN	N	2781	ENSP00000390158:D2781N	ENSP00000390158:D2781N	D	-	1	0	HERC1	61745385	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.800000	0.85949	2.678000	0.91216	0.655000	0.94253	GAT		0.502	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		T	63958332	C	T	63958332	3	4	691	1	0	0	0	0	1	0	0	0	7059	826	29	2	6392	2	HERC1	15	63958332	Missense_Mutation	SNP	C	TCGA-J7-A8I2-01A-12D-A35Z-10	1543	63958332	38573060	42	38225											
BCL2A1	597	hgsc.bcm.edu	37	15	80263200	80263200	+	Silent	SNP	T	T	G			TCGA-J7-A8I2-01A-12D-A35Z-10	TCGA-J7-A8I2-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9aace64d-14b2-435a-ab63-3891e2ae6bca	643d9c03-6b50-48da-aab4-0d369ca2392c	g.chr15:80263200T>G	ENST00000267953.3	-	1	588	c.262A>C	c.(262-264)Aga>Cga	p.R88R	BCL2A1_ENST00000335661.6_Silent_p.R88R	NM_004049.3	NP_004040.1	Q16548	B2LA1_HUMAN	BCL2-related protein A1	88					extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)	mitochondrial outer membrane (GO:0005741)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	12						GTTACAATTCTTCCCCAGTTA	0.393																																																0													206	195	199					15																	80263200		2203	4300	6503	SO:0001819	synonymous_variant	597				CCDS10312.1, CCDS45322.1	15q24.3	2014-05-20			ENSG00000140379	ENSG00000140379			991	protein-coding gene	gene with protein product		601056		HBPA1		8589678, 12771180	Standard	NM_004049		Approved	GRS, BFL1, BCL2L5, ACC-1, ACC-2	uc002bfc.4	Q16548	OTTHUMG00000144173	ENST00000267953.3:c.262A>C	chr15.hg19:g.80263200T>G			Q6FGZ4|Q6FH19|Q86W13|Q99524	Silent	SNP	ENST00000267953.3	hg19	CCDS10312.1																																																																																				0.393	BCL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291372.1	NM_004049		G	80263200	T	G	80263200	2	3	691	1	0	0	0	0	0	0	0	1	1366	1617	56	5		5	BCL2A1	15	80263200	Silent	SNP	T	TCGA-J7-A8I2-01A-12D-A35Z-10	16304868	80263200	22268192	43	38226											
ABCC12	94160	hgsc.bcm.edu	37	16	48180293	48180293	+	Nonsense_Mutation	SNP	G	G	A	rs561243035	byFrequency	TCGA-J7-A8I2-01A-12D-A35Z-10	TCGA-J7-A8I2-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9aace64d-14b2-435a-ab63-3891e2ae6bca	643d9c03-6b50-48da-aab4-0d369ca2392c	g.chr16:48180293G>A	ENST00000311303.3	-	1	388	c.43C>T	c.(43-45)Cga>Tga	p.R15*	ABCC12_ENST00000448542.1_Nonsense_Mutation_p.R15*|ABCC12_ENST00000416054.1_Nonsense_Mutation_p.R15*	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	15						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)				CGCCGGCCTCGCTGGTCCAGA	0.562													G|||	2	0.000399361	0.0	0.0	5008	,	,		20388	0.002		0.0	False		,,,				2504	0.0															0													120	106	110					16																	48180293		2201	4300	6501	SO:0001587	stop_gained	94160			AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"ATP binding cassette transporters / subfamily C"	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.43C>T	chr16.hg19:g.48180293G>A	ENSP00000311030:p.Arg15*		Q49AL2|Q8TAF0|Q8TEY2	Nonsense_Mutation	SNP	ENST00000311303.3	hg19	CCDS10730.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.994178	0.74703	.	.	ENSG00000140798	ENST00000311303;ENST00000448542;ENST00000449939;ENST00000416054;ENST00000527640	.	.	.	5.55	-6.59	0.01830	.	0.286455	0.31484	N	0.007571	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	12.0598	0.53557	0.0767:0.0:0.1475:0.7758	.	.	.	.	X	15	.	ENSP00000311030:R15X	R	-	1	2	ABCC12	46737794	0.056000	0.20664	0.885000	0.34714	0.786000	0.44442	0.094000	0.15107	-0.795000	0.04462	-0.243000	0.11985	CGA		0.562	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		A	48180293	G	A	48180293	4	1	691	1	0	0	0	0	0	1	0	0	52	1095	38	1	4152	1	ABCC12	16	48180293	Nonsense_Mutation	SNP	G	TCGA-J7-A8I2-01A-12D-A35Z-10		48180293	42174460	44	38227											
LLGL1	3996	hgsc.bcm.edu	37	17	18137219	18137219	+	Missense_Mutation	SNP	C	C	G			TCGA-J7-A8I2-01A-12D-A35Z-10	TCGA-J7-A8I2-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9aace64d-14b2-435a-ab63-3891e2ae6bca	643d9c03-6b50-48da-aab4-0d369ca2392c	g.chr17:18137219C>G	ENST00000316843.4	+	5	616	c.520C>G	c.(520-522)Cag>Gag	p.Q174E		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	174					axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					GCTCGAGGGGCAGACGCTTGC	0.647																																																0													60	61	61					17																	18137219		2203	4300	6503	SO:0001583	missense	3996				CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"WD repeat domain containing"	6628	protein-coding gene	gene with protein product		600966	"lethal giant larvae (Drosophila) homolog 1"	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.520C>G	chr17.hg19:g.18137219C>G	ENSP00000321537:p.Gln174Glu		A7MBM7|O00188|Q58F11|Q86UK6	Missense_Mutation	SNP	ENST00000316843.4	hg19	CCDS32586.1	.	.	.	.	.	.	.	.	.	.	C	6.290	0.421674	0.11928	.	.	ENSG00000131899	ENST00000316843	T	0.04502	3.61	5.87	4.89	0.63831	WD40 repeat-like-containing domain (1);	0.513993	0.23041	N	0.052615	T	0.04770	0.0129	L	0.29908	0.895	0.29734	N	0.837684	B	0.18013	0.025	B	0.15870	0.014	T	0.17319	-1.0373	10	0.23891	T	0.37	-18.3441	13.5421	0.61681	0.3898:0.6102:0.0:0.0	.	174	Q15334	L2GL1_HUMAN	E	174	ENSP00000321537:Q174E	ENSP00000321537:Q174E	Q	+	1	0	LLGL1	18077944	0.397000	0.25270	0.996000	0.52242	0.797000	0.45037	0.360000	0.20250	1.470000	0.48102	0.650000	0.86243	CAG		0.647	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132067.3			G	18137219	C	G	18137219	3	3	691	1	0	0	0	0	1	0	0	0	8835	711	25	4	538	4	LLGL1	17	18137219	Missense_Mutation	SNP	C	TCGA-J7-A8I2-01A-12D-A35Z-10		18137219	63057991	45	38228											
HOXB2	3212	hgsc.bcm.edu	37	17	46622084	46622084	+	Nonsense_Mutation	SNP	G	G	A			TCGA-J7-A8I2-01A-12D-A35Z-10	TCGA-J7-A8I2-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9aace64d-14b2-435a-ab63-3891e2ae6bca	643d9c03-6b50-48da-aab4-0d369ca2392c	g.chr17:46622084G>A	ENST00000330070.4	-	1	1357	c.190C>T	c.(190-192)Cag>Tag	p.Q64*	HOXB-AS1_ENST00000435312.1_RNA|HOXB2_ENST00000504772.3_5'Flank|HOXB-AS1_ENST00000508688.1_RNA|HOXB-AS1_ENST00000502764.2_RNA|HOXB-AS1_ENST00000504972.3_RNA	NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN	homeobox B2	64					anterior/posterior pattern specification (GO:0009952)|blood circulation (GO:0008015)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|facial nerve structural organization (GO:0021612)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|neural nucleus development (GO:0048857)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						CTGGGTCTCTGAAGGGTGGAG	0.637																																																0													24	32	29					17																	46622084		2202	4300	6502	SO:0001587	stop_gained	3212				CCDS11527.1	17q21.32	2012-02-22	2005-12-22		ENSG00000173917	ENSG00000173917		"Homeoboxes / ANTP class : HOXL subclass"	5113	protein-coding gene	gene with protein product		142967	"homeo box B2"	HOX2, HOX2H		1973146, 1358459	Standard	XM_005257276		Approved		uc002inm.3	P14652	OTTHUMG00000159930	ENST00000330070.4:c.190C>T	chr17.hg19:g.46622084G>A	ENSP00000331741:p.Gln64*		P10913|P17485	Nonsense_Mutation	SNP	ENST00000330070.4	hg19	CCDS11527.1	.	.	.	.	.	.	.	.	.	.	G	47	13.489855	0.99745	.	.	ENSG00000173917	ENST00000330070	.	.	.	5.05	5.05	0.67936	.	0.154045	0.46442	D	0.000285	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	17.3735	0.87385	0.0:0.0:1.0:0.0	.	.	.	.	X	64	.	ENSP00000331741:Q64X	Q	-	1	0	HOXB2	43977083	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.950000	0.56676	2.629000	0.89072	0.650000	0.86243	CAG		0.637	HOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358384.2			A	46622084	G	A	46622084	4	1	691	1	0	0	0	0	0	1	0	0	7303	1299	45	2	888	2	HOXB2	17	46622084	Nonsense_Mutation	SNP	G	TCGA-J7-A8I2-01A-12D-A35Z-10	28484865	46622084	34573126	46	38229											
UBE2O	63893	hgsc.bcm.edu	37	17	74393911	74393911	+	Missense_Mutation	SNP	G	G	C			TCGA-J7-A8I2-01A-12D-A35Z-10	TCGA-J7-A8I2-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9aace64d-14b2-435a-ab63-3891e2ae6bca	643d9c03-6b50-48da-aab4-0d369ca2392c	g.chr17:74393911G>C	ENST00000319380.7	-	13	2148	c.2084C>G	c.(2083-2085)gCt>gGt	p.A695G	UBE2O_ENST00000587581.1_5'UTR	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	695					positive regulation of BMP signaling pathway (GO:0030513)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						TGAGTTGTCAGCCCACACCAC	0.642											OREG0024751	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													137	126	130					17																	74393911		2203	4300	6503	SO:0001583	missense	63893			AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931			29554	protein-coding gene	gene with protein product						11311559, 11214970	Standard	NM_022066		Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.2084C>G	chr17.hg19:g.74393911G>C	ENSP00000323687:p.Ala695Gly	1152	A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Missense_Mutation	SNP	ENST00000319380.7	hg19	CCDS32742.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.497940	0.85069	.	.	ENSG00000175931	ENST00000319380	T	0.75477	-0.94	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.83954	0.5366	M	0.70595	2.14	0.50813	D	0.999893	D	0.67145	0.996	P	0.58266	0.836	D	0.83575	0.0114	10	0.46703	T	0.11	-10.7482	19.7404	0.96228	0.0:0.0:1.0:0.0	.	695	Q9C0C9	UBE2O_HUMAN	G	695	ENSP00000323687:A695G	ENSP00000323687:A695G	A	-	2	0	UBE2O	71905506	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.906000	0.87423	2.661000	0.90470	0.650000	0.86243	GCT		0.642	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450123.1	NM_022066		C	74393911	G	C	74393911	3	2	691	1	0	0	0	0	1	0	0	0	16873	971	34	4	1818	4	UBE2O	17	74393911	Missense_Mutation	SNP	G	TCGA-J7-A8I2-01A-12D-A35Z-10	27771827	74393911	6801299	47	38230											
SETBP1	26040	hgsc.bcm.edu	37	18	42531807	42531807	+	Silent	SNP	G	G	A			TCGA-J7-A8I2-01A-12D-A35Z-10	TCGA-J7-A8I2-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9aace64d-14b2-435a-ab63-3891e2ae6bca	643d9c03-6b50-48da-aab4-0d369ca2392c	g.chr18:42531807G>A	ENST00000282030.5	+	4	2798	c.2502G>A	c.(2500-2502)ctG>ctA	p.L834L		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	834						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)		CACCCAGACTGATGGCCAACT	0.537									Schinzel-Giedion syndrome																																							0													95	73	80					18																	42531807		2203	4300	6503	SO:0001819	synonymous_variant	26040	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.2502G>A	chr18.hg19:g.42531807G>A			A6H8W5|Q6P6C3|Q9UEF3	Silent	SNP	ENST00000282030.5	hg19	CCDS11923.2																																																																																				0.537	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		A	42531807	G	A	42531807	2	1	691	1	0	0	0	0	0	0	0	1	14135	1277	45	2		2	SETBP1	18	42531807	Silent	SNP	G	TCGA-J7-A8I2-01A-12D-A35Z-10		42531807	35545441	48	38231											
ANKRD27	84079	hgsc.bcm.edu	37	19	33119054	33119054	+	Missense_Mutation	SNP	G	G	A			TCGA-J7-A8I2-01A-12D-A35Z-10	TCGA-J7-A8I2-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9aace64d-14b2-435a-ab63-3891e2ae6bca	643d9c03-6b50-48da-aab4-0d369ca2392c	g.chr19:33119054G>A	ENST00000306065.4	-	15	1513	c.1355C>T	c.(1354-1356)tCa>tTa	p.S452L		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	452					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					AGTGACAACTGAGGGATCATT	0.542																																																0													117	112	114					19																	33119054		2203	4300	6503	SO:0001583	missense	84079			AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"Ankyrin repeat domain containing"	25310	protein-coding gene	gene with protein product	"Vps9 domain and ankyrin-repeat-containing protein"					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.1355C>T	chr19.hg19:g.33119054G>A	ENSP00000304292:p.Ser452Leu		Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Missense_Mutation	SNP	ENST00000306065.4	hg19	CCDS32986.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.677180	0.88445	.	.	ENSG00000105186	ENST00000306065	T	0.65916	-0.18	5.37	5.37	0.77165	Ankyrin repeat-containing domain (1);	0.000000	0.50627	D	0.000113	T	0.69441	0.3111	L	0.31120	0.905	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	T	0.65529	-0.6146	10	0.26408	T	0.33	-14.3157	19.1028	0.93281	0.0:0.0:1.0:0.0	.	452	Q96NW4	ANR27_HUMAN	L	452	ENSP00000304292:S452L	ENSP00000304292:S452L	S	-	2	0	ANKRD27	37810894	1.000000	0.71417	0.242000	0.24170	0.787000	0.44495	8.928000	0.92853	2.511000	0.84671	0.655000	0.94253	TCA		0.542	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1	NM_032139		A	33119054	G	A	33119054	3	1	691	1	0	0	0	0	1	0	0	0	655	1294	45	2	1857	2	ANKRD27	19	33119054	Missense_Mutation	SNP	G	TCGA-J7-A8I2-01A-12D-A35Z-10		33119054	26009929	49	38232											
FKBP1A	2280	hgsc.bcm.edu	37	20	1352846	1352846	+	Silent	SNP	T	T	G			TCGA-J7-A8I2-01A-12D-A35Z-10	TCGA-J7-A8I2-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9aace64d-14b2-435a-ab63-3891e2ae6bca	643d9c03-6b50-48da-aab4-0d369ca2392c	g.chr20:1352846T>G	ENST00000400137.4	-	4	400	c.237A>C	c.(235-237)ccA>ccC	p.P79P	SDCBP2-AS1_ENST00000609285.1_RNA|SDCBP2-AS1_ENST00000609470.1_RNA|FKBP1A_ENST00000381724.3_Silent_p.P74P|FKBP1A_ENST00000460490.1_5'Flank|FKBP1A_ENST00000381719.3_Silent_p.P79P|FKBP1A_ENST00000381715.1_Silent_p.P74P|SDCBP2-AS1_ENST00000446423.1_RNA|FKBP1A_ENST00000439640.2_Silent_p.P63P	NM_000801.4	NP_000792.1	P62942	FKB1A_HUMAN	FK506 binding protein 1A, 12kDa	79	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.				'de novo' protein folding (GO:0006458)|amyloid fibril formation (GO:1990000)|calcium ion transmembrane transport (GO:0070588)|chaperone-mediated protein folding (GO:0061077)|extracellular fibril organization (GO:0043206)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein binding (GO:0032092)|positive regulation of protein ubiquitination (GO:0031398)|protein folding (GO:0006457)|protein maturation by protein folding (GO:0022417)|protein peptidyl-prolyl isomerization (GO:0000413)|protein refolding (GO:0042026)|regulation of activin receptor signaling pathway (GO:0032925)|regulation of amyloid precursor protein catabolic process (GO:1902991)|regulation of immune response (GO:0050776)|regulation of protein localization (GO:0032880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|SMAD protein complex assembly (GO:0007183)|T cell activation (GO:0042110)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|terminal cisterna (GO:0014802)|Z disc (GO:0030018)	activin binding (GO:0048185)|FK506 binding (GO:0005528)|ion channel binding (GO:0044325)|macrolide binding (GO:0005527)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|type I transforming growth factor beta receptor binding (GO:0034713)			central_nervous_system(1)|lung(1)|upper_aerodigestive_tract(1)	3					Pimecrolimus(DB00337)|Sirolimus(DB00877)|Tacrolimus(DB00864)	AGGCATAATCTGGAGATATAG	0.498																																																0													72	62	66					20																	1352846		2203	4298	6501	SO:0001819	synonymous_variant	2280			M92423	CCDS13014.1, CCDS74688.1	20p13	2013-03-20	2002-08-29		ENSG00000088832	ENSG00000088832			3711	protein-coding gene	gene with protein product	"calstabin 1"	186945	"FK506-binding protein 1A (12kD)"	FKBP1		1930186	Standard	NM_000801		Approved	FKBP-12, FKBP12, PKC12, PPIASE, FKBP12C	uc002wey.3	P62942	OTTHUMG00000031666	ENST00000400137.4:c.237A>C	chr20.hg19:g.1352846T>G			D3DVW6|P20071|Q4VC47|Q6FGD9|Q6LEU3|Q9H103|Q9H566	Silent	SNP	ENST00000400137.4	hg19	CCDS13014.1																																																																																				0.498	FKBP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077534.2			G	1352846	T	G	1352846	2	3	691	1	0	0	0	0	0	0	0	1	5908	1567	55	5		5	FKBP1A	20	1352846	Silent	SNP	T	TCGA-J7-A8I2-01A-12D-A35Z-10		1352846	61672674	50	38233											
GGT7	2686	hgsc.bcm.edu	37	20	33447370	33447371	+	Frame_Shift_Ins	INS	-	-	G			TCGA-J7-A8I2-01A-12D-A35Z-10	TCGA-J7-A8I2-10A-01D-A35Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9aace64d-14b2-435a-ab63-3891e2ae6bca	643d9c03-6b50-48da-aab4-0d369ca2392c	g.chr20:33447370_33447371insG	ENST00000336431.5	-	7	933_934	c.889_890insC	c.(889-891)cgcfs	p.R297fs		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	297					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)	p.R297H(1)		NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						TAGTGGCGGGCGGCCCGATGGC	0.688																																																1	Substitution - Missense(1)	lung(1)																																								SO:0001589	frameshift_variant	2686			AL049709	CCDS13242.2	20q11.22	2008-11-24	2008-03-10	2008-03-10	ENSG00000131067	ENSG00000131067		"Gamma-glutamyltransferases"	4259	protein-coding gene	gene with protein product		612342	"gamma-glutamyltransferase-like 3"	GGTL5, GGTL3		8104871, 18357469	Standard	NM_178026		Approved	D20S101, dJ18C9.2	uc002xay.3	Q9UJ14	OTTHUMG00000032314	ENST00000336431.5:c.890dupC	chr20.hg19:g.33447372_33447372dupG	ENSP00000338964:p.Arg297fs		Q8N899|Q8NF66|Q9BYP5|Q9BYP6	Frame_Shift_Ins	INS	ENST00000336431.5	hg19	CCDS13242.2																																																																																				0.688	GGT7-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078816.2	NM_178026		G	33447371	-	G	33447370	7	5	691	1	0	1	1	0	0	0	0	0	6366	768	27	0	1134	0	GGT7	20	33447370	Frame_Shift_Ins	INS	-	TCGA-J7-A8I2-01A-12D-A35Z-10	32094524	33447370	29578150	51	38234											
CEP250	11190	hgsc.bcm.edu	37	20	34099427	34099427	+	Missense_Mutation	SNP	C	C	T			TCGA-J7-A8I2-01A-12D-A35Z-10	TCGA-J7-A8I2-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9aace64d-14b2-435a-ab63-3891e2ae6bca	643d9c03-6b50-48da-aab4-0d369ca2392c	g.chr20:34099427C>T	ENST00000397527.1	+	35	8021	c.7301C>T	c.(7300-7302)cCc>cTc	p.P2434L	CEP250_ENST00000342580.4_Missense_Mutation_p.P2378L	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	2434					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)			CACCCCAGCCCCAGCACTACC	0.627																																																0													38	39	39					20																	34099427		2203	4300	6503	SO:0001583	missense	11190			AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"centrosomal protein 2"	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.7301C>T	chr20.hg19:g.34099427C>T	ENSP00000380661:p.Pro2434Leu		E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	ENST00000397527.1	hg19	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.494922	0.44352	.	.	ENSG00000126001	ENST00000397527;ENST00000342580;ENST00000422671	T;T;T	0.48836	2.76;2.74;0.8	4.65	2.7	0.31948	.	0.277119	0.25890	N	0.027635	T	0.29882	0.0747	L	0.38838	1.175	0.31610	N	0.651583	B	0.02656	0.0	B	0.06405	0.002	T	0.17531	-1.0366	10	0.20046	T	0.44	.	3.6764	0.08294	0.1943:0.5961:0.0:0.2096	.	2434	Q9BV73	CP250_HUMAN	L	2434;2378;869	ENSP00000380661:P2434L;ENSP00000341541:P2378L;ENSP00000395992:P869L	ENSP00000341541:P2378L	P	+	2	0	CEP250	33562841	0.729000	0.28090	0.775000	0.31657	0.850000	0.48378	1.914000	0.39966	0.561000	0.29186	0.561000	0.74099	CCC		0.627	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		T	34099427	C	T	34099427	3	4	691	1	0	0	0	0	1	0	0	0	3254	623	22	2	7427	2	CEP250	20	34099427	Missense_Mutation	SNP	C	TCGA-J7-A8I2-01A-12D-A35Z-10	652057	34099427	28926093	52	38235											
LAMA5	3911	hgsc.bcm.edu	37	20	60906117	60906117	+	Silent	SNP	G	G	A			TCGA-J7-A8I2-01A-12D-A35Z-10	TCGA-J7-A8I2-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9aace64d-14b2-435a-ab63-3891e2ae6bca	643d9c03-6b50-48da-aab4-0d369ca2392c	g.chr20:60906117G>A	ENST00000252999.3	-	29	3687	c.3621C>T	c.(3619-3621)atC>atT	p.I1207I	MIR4758_ENST00000577688.1_RNA	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1207	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)	p.I1207I(1)		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)			CGTGGCTGCTGATGCAGCTGA	0.692																																																1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)											22	25	24					20																	60906117		2197	4298	6495	SO:0001819	synonymous_variant	3911			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.3621C>T	chr20.hg19:g.60906117G>A			Q8TDF8|Q8WZA7|Q9H1P1	Silent	SNP	ENST00000252999.3	hg19	CCDS33502.1																																																																																				0.692	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		A	60906117	G	A	60906117	2	1	691	1	0	0	0	0	0	0	0	1	8611	1280	45	2		2	LAMA5	20	60906117	Silent	SNP	G	TCGA-J7-A8I2-01A-12D-A35Z-10	26806690	60906117	2119403	53	38236											
SLC37A1	54020	hgsc.bcm.edu	37	21	43979172	43979172	+	Missense_Mutation	SNP	C	C	G			TCGA-J7-A8I2-01A-12D-A35Z-10	TCGA-J7-A8I2-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9aace64d-14b2-435a-ab63-3891e2ae6bca	643d9c03-6b50-48da-aab4-0d369ca2392c	g.chr21:43979172C>G	ENST00000352133.2	+	11	1936	c.954C>G	c.(952-954)atC>atG	p.I318M	AP001625.6_ENST00000442605.1_RNA|SLC37A1_ENST00000398341.3_Missense_Mutation_p.I318M			P57057	GLPT_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 1	318					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	transporter activity (GO:0005215)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						CGGCCGCCATCAGCTTCACAG	0.592																																																0													45	45	45					21																	43979172		2203	4300	6503	SO:0001583	missense	54020			AJ269529	CCDS13689.1	21q22.3	2013-07-17	2013-07-17		ENSG00000160190	ENSG00000160190		"Solute carriers"	11024	protein-coding gene	gene with protein product		608094	"solute carrier family 37 (glycerol-3-phosphate transporter), member 1"			11112347	Standard	NM_018964		Approved		uc002zbi.3	P57057	OTTHUMG00000086803	ENST00000352133.2:c.954C>G	chr21.hg19:g.43979172C>G	ENSP00000344648:p.Ile318Met		D3DSJ7|Q9HAQ1	Missense_Mutation	SNP	ENST00000352133.2	hg19	CCDS13689.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.543831	0.45280	.	.	ENSG00000160190	ENST00000398341;ENST00000352133	T;T	0.59364	0.27;0.27	5.7	5.7	0.88788	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.054132	0.64402	D	0.000001	T	0.79724	0.4495	M	0.91818	3.245	0.58432	D	0.999993	D	0.76494	0.999	D	0.75484	0.986	D	0.83363	0.0003	10	0.72032	D	0.01	-27.3918	12.3411	0.55095	0.1685:0.8315:0.0:0.0	.	318	P57057	GLPT_HUMAN	M	318	ENSP00000381383:I318M;ENSP00000344648:I318M	ENSP00000344648:I318M	I	+	3	3	SLC37A1	42852241	1.000000	0.71417	1.000000	0.80357	0.021000	0.10359	2.026000	0.41069	2.688000	0.91661	0.655000	0.94253	ATC		0.592	SLC37A1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195377.1			G	43979172	C	G	43979172	3	3	691	1	0	0	0	0	1	0	0	0	14603	816	29	4	992	4	SLC37A1	21	43979172	Missense_Mutation	SNP	C	TCGA-J7-A8I2-01A-12D-A35Z-10		43979172	4150723	54	38237											
LIF	3976	hgsc.bcm.edu	37	22	30639798	30639798	+	Missense_Mutation	SNP	C	C	T			TCGA-J7-A8I2-01A-12D-A35Z-10	TCGA-J7-A8I2-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9aace64d-14b2-435a-ab63-3891e2ae6bca	643d9c03-6b50-48da-aab4-0d369ca2392c	g.chr22:30639798C>T	ENST00000249075.3	-	3	606	c.451G>A	c.(451-453)Gtg>Atg	p.V151M	RP1-102K2.8_ENST00000608354.1_RNA|LIF_ENST00000403987.3_3'UTR|RP1-102K2.8_ENST00000593843.1_RNA	NM_002309.4	NP_002300.1	P15018	LIF_HUMAN	leukemia inhibitory factor	151					blood vessel remodeling (GO:0001974)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|immune response (GO:0006955)|leukemia inhibitory factor signaling pathway (GO:0048861)|lung alveolus development (GO:0048286)|lung lobe morphogenesis (GO:0060463)|lung vasculature development (GO:0060426)|multicellular organismal development (GO:0007275)|muscle organ morphogenesis (GO:0048644)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of hormone secretion (GO:0046888)|negative regulation of meiosis (GO:0045835)|neuron development (GO:0048666)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cell proliferation (GO:0008284)|positive regulation of histone H3-K27 acetylation (GO:1901676)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein localization to nucleus (GO:1900182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|spongiotrophoblast differentiation (GO:0060708)|stem cell maintenance (GO:0019827)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|leukemia inhibitory factor receptor binding (GO:0005146)|receptor binding (GO:0005102)|RNA polymerase II transcription factor recruiting transcription factor activity (GO:0001135)			breast(1)|lung(3)|skin(3)	7			Epithelial(10;0.171)			CGGCACAGCACGTTGCTAAGG	0.612																																																0													202	172	182					22																	30639798		2203	4300	6503	SO:0001583	missense	3976				CCDS13872.1, CCDS58799.1	22q12.2	2012-02-09	2012-02-09		ENSG00000128342	ENSG00000128342			6596	protein-coding gene	gene with protein product	"differentiation inhibitory activity", "differentiation-inducing factor", "hepatocyte-stimulating factor III", "cholinergic differentiation factor", "human interleukin in DA cells"	159540				1714745, 8058719	Standard	NM_002309		Approved	CDF, DIA, HILDA	uc003agz.3	P15018	OTTHUMG00000150910	ENST00000249075.3:c.451G>A	chr22.hg19:g.30639798C>T	ENSP00000249075:p.Val151Met		B2RCW7|B5MC23|Q52LZ2	Missense_Mutation	SNP	ENST00000249075.3	hg19	CCDS13872.1	.	.	.	.	.	.	.	.	.	.	C	19.76	3.886813	0.72410	.	.	ENSG00000128342	ENST00000249075	T	0.80304	-1.36	4.99	3.93	0.45458	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.095837	0.44688	D	0.000429	D	0.85999	0.5828	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86414	0.1750	10	0.66056	D	0.02	-23.106	10.622	0.45484	0.0:0.6769:0.3231:0.0	.	151	P15018	LIF_HUMAN	M	151	ENSP00000249075:V151M	ENSP00000249075:V151M	V	-	1	0	LIF	28969798	0.967000	0.33354	0.998000	0.56505	0.932000	0.56968	1.735000	0.38176	2.294000	0.77228	0.561000	0.74099	GTG		0.612	LIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320508.1	NM_002309		T	30639798	C	T	30639798	3	4	691	1	0	0	0	0	1	0	0	0	8781	536	19	1	161	1	LIF	22	30639798	Missense_Mutation	SNP	C	TCGA-J7-A8I2-01A-12D-A35Z-10		30639798	20664768	55	38238											
EP300	2033	hgsc.bcm.edu	37	22	41553171	41553201	+	Splice_Site	DEL	GAGTAATGTTTGATGTCACTTGTCTTTCTAG	GAGTAATGTTTGATGTCACTTGTCTTTCTAG	-			TCGA-J7-A8I2-01A-12D-A35Z-10	TCGA-J7-A8I2-10A-01D-A35Z-10	GAGTAATGTTTGATGTCACTTGTCTTTCTAG	GAGTAATGTTTGATGTCACTTGTCTTTCTAG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9aace64d-14b2-435a-ab63-3891e2ae6bca	643d9c03-6b50-48da-aab4-0d369ca2392c	g.chr22:41553171_41553201delGAGTAATGTTTGATGTCACTTGTCTTTCTAG	ENST00000263253.7	+	18	4480_4509	c.3261_3290delGAGTAATGTTTGATGTCACTTGTCTTTCTAG	c.(3259-3291)ccgagtaatgtttgatgtcacttgtctttctag>ccg	p.SNV*CHLSF*1088fs		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1088	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)	p.F1090L(1)|p.S1095I(1)|p.?(1)		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						TTGTCTTTCTAGGATTACTTTGATATTGTGAAGAGCCCCATGGATCTTTCT	0.385			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																														Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"L, E"	3	Substitution - Missense(2)|Unknown(1)	urinary_tract(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)																																								SO:0001630	splice_region_variant	2033	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"Chromatin-modifying enzymes / K-acetyltransferases"	3373	protein-coding gene	gene with protein product	"histone acetyltransferase p300"	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.3262-1GAGTAATGTTTGATGTCACTTGTCTTTCTAG>-	chr22.hg19:g.41553171_41553201delGAGTAATGTTTGATGTCACTTGTCTTTCTAG			B1AKC2	Splice_Site	DEL	ENST00000263253.7	hg19	CCDS14010.1																																																																																				0.385	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429	Frame_Shift_Del	-	41553201	GAGTAATGTTTGATGTCACTTGTCTTTCTAG	-	41553171	8	5	691	1	0	1	0	1	0	0	1	0	5150	434	15	0	3330	0	EP300	22	41553171	Splice_Site	DEL	GAGTAATGTTTGATGTCACTTGTCTTTCTAG	TCGA-J7-A8I2-01A-12D-A35Z-10	10913373	41553171	9751395	56	38239											
KDM6A	7403	hgsc.bcm.edu	37	X	44970638	44970638	+	Frame_Shift_Del	DEL	A	A	-			TCGA-J7-A8I2-01A-12D-A35Z-10	TCGA-J7-A8I2-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9aace64d-14b2-435a-ab63-3891e2ae6bca	643d9c03-6b50-48da-aab4-0d369ca2392c	g.chrX:44970638delA	ENST00000377967.4	+	29	4229	c.4188delA	c.(4186-4188)ttafs	p.L1396fs	KDM6A_ENST00000382899.4_Frame_Shift_Del_p.L1403fs|KDM6A_ENST00000536777.1_Frame_Shift_Del_p.L1351fs|KDM6A_ENST00000543216.1_Frame_Shift_Del_p.L1317fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1396					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						CTCCTCCATTACCATCCGCCT	0.373			"D, N, F, S"		"renal, oesophageal SCC, MM"																																Colon(129;1273 1667 15230 27352 52914)		Rec	yes		X	Xp11.2	7403	"lysine (K)-specific demethylase 6A, UTX"		"E, L"	6	Whole gene deletion(6)	oesophagus(2)|breast(2)|pancreas(2)											178	147	158					X																	44970638		2203	4300	6503	SO:0001589	frameshift_variant	7403			AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"Chromatin-modifying enzymes / K-demethylases", "Tetratricopeptide (TTC) repeat domain containing"	12637	protein-coding gene	gene with protein product		300128	"ubiquitously transcribed tetratricopeptide repeat, X chromosome"	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.4188delA	chrX.hg19:g.44970638delA	ENSP00000367203:p.Leu1396fs		Q52LL9|Q5JVQ7	Frame_Shift_Del	DEL	ENST00000377967.4	hg19	CCDS14265.1																																																																																				0.373	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140		-	44970638	A	-	44970638	7	5	691	1	0	1	0	1	0	0	0	0	8139	388	14	0	4302	0	KDM6A	23	44970638	Frame_Shift_Del	DEL	A	TCGA-J7-A8I2-01A-12D-A35Z-10		44970638	110299922	57	38240											
APEX2	27301	hgsc.bcm.edu	37	X	55033281	55033281	+	Silent	SNP	C	C	T			TCGA-J7-A8I2-01A-12D-A35Z-10	TCGA-J7-A8I2-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9aace64d-14b2-435a-ab63-3891e2ae6bca	643d9c03-6b50-48da-aab4-0d369ca2392c	g.chrX:55033281C>T	ENST00000374987.3	+	6	1036	c.970C>T	c.(970-972)Ctg>Ttg	p.L324L	ALAS2_ENST00000498636.1_5'Flank	NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN	APEX nuclease (apurinic/apyrimidinic endonuclease) 2	324					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						GTGCCCACCTCTGTGCACCCG	0.577								Other BER factors																																								0													55	47	49					X																	55033281		2203	4300	6503	SO:0001819	synonymous_variant	27301			AB021260	CCDS14365.1	Xp11.23	2014-02-18			ENSG00000169188	ENSG00000169188	4.2.99.18		17889	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 2"	300773				11376153	Standard	NM_014481		Approved	APEXL2, APE2, XTH2, ZGRF2	uc004dtz.4	Q9UBZ4	OTTHUMG00000021642	ENST00000374987.3:c.970C>T	chrX.hg19:g.55033281C>T			Q9Y5X7	Silent	SNP	ENST00000374987.3	hg19	CCDS14365.1																																																																																				0.577	APEX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056845.1			T	55033281	C	T	55033281	2	4	691	1	0	0	0	0	0	0	0	1	770	912	32	2		2	APEX2	23	55033281	Silent	SNP	C	TCGA-J7-A8I2-01A-12D-A35Z-10	10062643	55033281	100237279	58	38241											
ZMYM3	9203	hgsc.bcm.edu	37	X	70472979	70472979	+	Nonsense_Mutation	SNP	G	G	A			TCGA-J7-A8I2-01A-12D-A35Z-10	TCGA-J7-A8I2-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9aace64d-14b2-435a-ab63-3891e2ae6bca	643d9c03-6b50-48da-aab4-0d369ca2392c	g.chrX:70472979G>A	ENST00000353904.2	-	2	314	c.127C>T	c.(127-129)Cga>Tga	p.R43*	ZMYM3_ENST00000373988.1_Nonsense_Mutation_p.R43*|ZMYM3_ENST00000314425.5_Nonsense_Mutation_p.R43*|ZMYM3_ENST00000373978.1_Nonsense_Mutation_p.R43*|ZMYM3_ENST00000373981.1_Nonsense_Mutation_p.R43*|ZMYM3_ENST00000373998.1_Nonsense_Mutation_p.R43*|ZMYM3_ENST00000373982.1_Nonsense_Mutation_p.R43*|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373984.3_Nonsense_Mutation_p.R43*	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	43					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)					GCCCATCCTCGAGTTGGGGCA	0.592											OREG0019858	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													13	15	15					X																	70472979		2155	4235	6390	SO:0001587	stop_gained	9203			AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"Zinc fingers, MYM type"	13054	protein-coding gene	gene with protein product		300061	"zinc finger protein 261"	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.127C>T	chrX.hg19:g.70472979G>A	ENSP00000343909:p.Arg43*	1122	D3DVV3|O15089|Q96E26	Nonsense_Mutation	SNP	ENST00000353904.2	hg19	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	g	36	5.732897	0.96856	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988;ENST00000373982;ENST00000373981;ENST00000373978	.	.	.	4.64	4.64	0.57946	.	0.369189	0.19624	N	0.109848	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.5077	15.0413	0.71793	0.0:0.0:1.0:0.0	.	.	.	.	X	43	.	ENSP00000322845:R43X	R	-	1	2	ZMYM3	70389704	1.000000	0.71417	0.993000	0.49108	0.962000	0.63368	4.218000	0.58554	1.898000	0.54952	0.287000	0.19450	CGA		0.592	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		A	70472979	G	A	70472979	4	1	691	1	0	0	0	0	0	1	0	0	17706	1066	37	1	4099	1	ZMYM3	23	70472979	Nonsense_Mutation	SNP	G	TCGA-J7-A8I2-01A-12D-A35Z-10	15439698	70472979	84797581	59	38242											
UBR4	23352	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	1	19480348	19480349	+	Missense_Mutation	DNP	GC	GC	TA			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	GC	GC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr1:19480348_19480349GC>TA	ENST00000375254.3	-	45	6570_6571	c.6543_6544GC>TA	c.(6541-6546)caGCaa>caTAaa	p.2181_2182QQ>HK	UBR4_ENST00000375226.2_Missense_Mutation_p.2181_2182QQ>HK|UBR4_ENST00000375217.2_Missense_Mutation_p.2181_2182QQ>HK|UBR4_ENST00000375267.2_Missense_Mutation_p.2181_2182QQ>HK	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2181					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)		CCTGTAGTTTGCTGGACACAGC	0.495																																																0																																										SO:0001583	missense	23352			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.6543_6544delinsTA	1.37:g.19480348_19480349delinsTA	ENSP00000364403:p.Q2181_Q2182delinsHK		A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	DNP	ENST00000375254.3	37	CCDS189.1																																																																																				0.495	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		TA	19480349	GC	TA	19480348	3	4	692	1	0	0	0	0	1	0	0	0	16909	1328	46	4	9255	4	UBR4	1	19480348	Missense_Mutation	DNP	GC	TCGA-KL-8323-01A-21D-2310-10		19480348	229770273	1	38243											
AIM1L	55057	ucsc.edu	37	1	26664510	26664510	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr1:26664510T>C	ENST00000308182.5	-	7	794	c.365A>G	c.(364-366)gAg>gGg	p.E122G	AIM1L_ENST00000527815.1_Missense_Mutation_p.E293G|AIM1L_ENST00000522993.1_5'UTR			Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	122							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)		TACCCTGGGCTCCCCTGGCTT	0.577																																																0													48	39	42					1																	26664510		2203	4300	6503	SO:0001583	missense	55057					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.365A>G	1.37:g.26664510T>C	ENSP00000310435:p.Glu122Gly		B2RNG3|Q5T137|Q5T150	Missense_Mutation	SNP	ENST00000308182.5	37		.	.	.	.	.	.	.	.	.	.	T	26.8	4.768605	0.90020	.	.	ENSG00000176092	ENST00000527815;ENST00000308182	T;T	0.76709	-1.04;-1.01	5.13	3.98	0.46160	Beta/gamma crystallin (1);Gamma-crystallin-related (1);	0.303860	0.35040	N	0.003481	D	0.84037	0.5384	M	0.76727	2.345	0.80722	D	1	D;D	0.63880	0.984;0.993	P;P	0.61328	0.829;0.887	T	0.83285	-0.0036	10	0.49607	T	0.09	.	9.4283	0.38595	0.159:0.0:0.0:0.841	.	39;122	Q9NTH7;Q8N1P7	.;AIM1L_HUMAN	G	293;122	ENSP00000433931:E293G;ENSP00000310435:E122G	ENSP00000310435:E122G	E	-	2	0	AIM1L	26537097	0.988000	0.35896	0.997000	0.53966	0.978000	0.69477	2.987000	0.49378	0.939000	0.37446	0.533000	0.62120	GAG		0.577	AIM1L-201	KNOWN	basic	protein_coding	protein_coding		NM_001039775.2		C	26664510	T	C	26664510	3	2	692	1	0	0	0	0	1	0	0	0	431	1551	54	3	1537	3	AIM1L	1	26664510	Missense_Mutation	SNP	T	TCGA-KL-8323-01A-21D-2310-10	7184162	26664510	222586111	2	38244											
ATF6	22926	ucsc.edu	37	1	161790871	161790871	+	Silent	SNP	T	T	C			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr1:161790871T>C	ENST00000367942.3	+	9	1174	c.1107T>C	c.(1105-1107)ctT>ctC	p.L369L		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	369	bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.			NQRL -> LRNS (in Ref. 5; no nucleotide entry). {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)	ACCAGAGGCTTAAAGTCCCTA	0.343																																																0													148	151	150					1																	161790871		2203	4300	6503	SO:0001819	synonymous_variant	22926			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.1107T>C	1.37:g.161790871T>C			O15139|Q5VW62|Q6IPB5|Q9UEC9	Silent	SNP	ENST00000367942.3	37	CCDS1235.1																																																																																				0.343	ATF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060304.2	NM_007348		C	161790871	T	C	161790871	2	2	692	1	0	0	0	0	0	0	0	1	1084	1741	61	3		3	ATF6	1	161790871	Silent	SNP	T	TCGA-KL-8323-01A-21D-2310-10	135126361	161790871	87459750	3	38245											
RC3H1	149041	broad.mit.edu	37	1	173912597	173912597	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr1:173912597T>C	ENST00000367696.2	-	18	3469	c.3118A>G	c.(3118-3120)Aca>Gca	p.T1040A	RC3H1_ENST00000367694.2_Missense_Mutation_p.T1031A|RC3H1_ENST00000258349.4_Missense_Mutation_p.T1040A			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	1040					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						AGTTCCCGTGTTCTCTTCCCG	0.498																																																0													230	214	219					1																	173912597		2203	4300	6503	SO:0001583	missense	149041			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.3118A>G	1.37:g.173912597T>C	ENSP00000356669:p.Thr1040Ala		B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Missense_Mutation	SNP	ENST00000367696.2	37	CCDS30940.1	.	.	.	.	.	.	.	.	.	.	T	16.61	3.172503	0.57584	.	.	ENSG00000135870	ENST00000367696;ENST00000258349;ENST00000367694	T;T;T	0.47869	0.89;0.89;0.83	5.24	5.24	0.73138	.	0.157302	0.56097	D	0.000030	T	0.40595	0.1123	L	0.50333	1.59	0.51767	D	0.999934	P;P;P;P	0.45126	0.767;0.767;0.851;0.767	B;B;P;B	0.47402	0.344;0.344;0.546;0.344	T	0.41734	-0.9492	10	0.56958	D	0.05	-11.204	15.1378	0.72583	0.0:0.0:0.0:1.0	.	1040;1031;1031;1040	B9EGU6;B7ZMB3;Q5TC82-2;Q5TC82	.;.;.;RC3H1_HUMAN	A	1040;1040;1031	ENSP00000356669:T1040A;ENSP00000258349:T1040A;ENSP00000356667:T1031A	ENSP00000258349:T1040A	T	-	1	0	RC3H1	172179220	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	5.837000	0.69381	1.978000	0.57642	0.533000	0.62120	ACA		0.498	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090733.2	NM_172071		C	173912597	T	C	173912597	3	2	692	1	0	0	0	0	1	0	0	0	13172	1725	60	3	295	3	RC3H1	1	173912597	Missense_Mutation	SNP	T	TCGA-KL-8323-01A-21D-2310-10	12121726	173912597	75338024	4	38246											
RASAL2	9462	hgsc.bcm.edu	37	1	178421771	178421771	+	Silent	SNP	C	C	T			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr1:178421771C>T	ENST00000462775.1	+	9	1674	c.1549C>T	c.(1549-1551)Ctg>Ttg	p.L517L	RASAL2_ENST00000367649.3_Silent_p.L665L|RASAL2_ENST00000448150.3_Silent_p.L647L	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	517	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						CATTCAGAACCTGGCCAACTT	0.433																																																0													117	107	110					1																	178421771		2203	4299	6502	SO:0001819	synonymous_variant	9462			AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"Pleckstrin homology (PH) domain containing"	9874	protein-coding gene	gene with protein product	"Ras GTPase activating protein-like", "Ras protein activator like 1"	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.1549C>T	1.37:g.178421771C>T			F8W755|O95174|Q2TB22|Q5TFU9	Silent	SNP	ENST00000462775.1	37	CCDS1322.1	.	.	.	.	.	.	.	.	.	.	C	8.494	0.862639	0.17178	.	.	ENSG00000075391	ENST00000433130	.	.	.	5.15	3.29	0.37713	.	.	.	.	.	T	0.59293	0.2183	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53351	-0.8451	4	.	.	.	.	9.6673	0.39992	0.0:0.7753:0.0:0.2247	.	.	.	.	L	67	.	.	P	+	2	0	RASAL2	176688394	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.876000	0.63079	0.567000	0.29293	0.557000	0.71058	CCT		0.433	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	NM_170692		T	178421771	C	T	178421771	2	4	692	1	0	0	0	0	0	0	0	1	13070	680	24	2		2	RASAL2	1	178421771	Silent	SNP	C	TCGA-KL-8323-01A-21D-2310-10	4509174	178421771	70828850	5	38247											
OBSCN	84033	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	1	228548164	228548164	+	Intron	SNP	G	G	A			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr1:228548164G>A	ENST00000422127.1	+	80	18705				OBSCN_ENST00000366709.4_Missense_Mutation_p.R3643Q|OBSCN_ENST00000284548.11_Missense_Mutation_p.R6524Q|OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000570156.2_Intron	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)				CTGGGTCCCCGAGGCCCTCTC	0.692																																																0													16	20	19					1																	228548164		1950	4134	6084	SO:0001627	intron_variant	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.18662-2113G>A	1.37:g.228548164G>A			Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.471288	0.63625	.	.	ENSG00000154358	ENST00000284548;ENST00000366709	T;T	0.55760	0.5;0.65	4.06	0.729	0.18266	.	.	.	.	.	T	0.33990	0.0882	L	0.56769	1.78	0.09310	N	1	P	0.43633	0.813	B	0.31101	0.124	T	0.18967	-1.0320	9	0.19147	T	0.46	.	2.2287	0.03991	0.2401:0.0:0.2551:0.5048	.	6524	Q5VST9-3	.	Q	6524;3643	ENSP00000284548:R6524Q;ENSP00000355670:R3643Q	ENSP00000284548:R6524Q	R	+	2	0	OBSCN	226614787	0.001000	0.12720	0.000000	0.03702	0.021000	0.10359	1.314000	0.33597	0.340000	0.23745	-0.293000	0.09583	CGA		0.692	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		A	228548164	G	A	228548164	1	1	692	0	1	0	0	0	0	0	0	0	10814	1058	37	1		1	OBSCN	1	228548164	Intron	SNP	G	TCGA-KL-8323-01A-21D-2310-10	50126393	228548164	20702457	6	38248											
OR2T8	343172	broad.mit.edu	37	1	248084369	248084369	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr1:248084369A>G	ENST00000319968.4	+	1	50	c.50A>G	c.(49-51)aAc>aGc	p.N17S		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	17						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(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	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;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGACTCTTTAACCACACCAGA	0.428																																																0													104	101	102					1																	248084369		2203	4300	6503	SO:0001583	missense	343172				CCDS31100.1	1q44	2012-08-09		2004-03-10	ENSG00000177462	ENSG00000177462		"GPCR / Class A : Olfactory receptors"	15020	protein-coding gene	gene with protein product				OR2T8P			Standard	XM_005273117		Approved		uc010pzc.2	A6NH00	OTTHUMG00000040205	ENST00000319968.4:c.50A>G	1.37:g.248084369A>G	ENSP00000326225:p.Asn17Ser			Missense_Mutation	SNP	ENST00000319968.4	37	CCDS31100.1	.	.	.	.	.	.	.	.	.	.	A	0.010	-1.744473	0.00675	.	.	ENSG00000177462	ENST00000319968	T	0.00316	8.13	3.51	-0.677	0.11357	.	1.231280	0.06234	U	0.689141	T	0.00144	0.0004	L	0.34521	1.04	0.09310	N	1	B	0.16396	0.017	B	0.15484	0.013	T	0.40175	-0.9577	10	0.02654	T	1	.	4.6608	0.12641	0.6428:0.1616:0.1956:0.0	.	17	A6NH00	OR2T8_HUMAN	S	17	ENSP00000326225:N17S	ENSP00000326225:N17S	N	+	2	0	OR2T8	246150992	0.000000	0.05858	0.037000	0.18230	0.018000	0.09664	0.097000	0.15168	0.027000	0.15297	-0.323000	0.08544	AAC		0.428	OR2T8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096862.1	NM_001005522		G	248084369	A	G	248084369	3	3	692	1	0	0	0	0	1	0	0	0	11032	43	2	3	52	3	OR2T8	1	248084369	Missense_Mutation	SNP	A	TCGA-KL-8323-01A-21D-2310-10	19536205	248084369	1166252	7	38249											
STRN	6801	ucsc.edu	37	2	37094995	37094995	+	Silent	SNP	A	A	G			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr2:37094995A>G	ENST00000263918.4	-	12	1517	c.1509T>C	c.(1507-1509)tcT>tcC	p.S503S	RNU6-577P_ENST00000516947.1_RNA|STRN_ENST00000379213.2_Silent_p.S454S	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	503					dendrite development (GO:0016358)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|tight junction assembly (GO:0070830)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|estrogen receptor binding (GO:0030331)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				CTACATCAAGAGAAGTGCTCC	0.299																																																0													110	115	113					2																	37094995		2203	4292	6495	SO:0001819	synonymous_variant	6801			AJ223814	CCDS1784.1	2p22.2	2013-01-10	2001-11-28		ENSG00000115808	ENSG00000115808		"WD repeat domain containing"	11424	protein-coding gene	gene with protein product		614765	"striatin, calmodulin-binding protein"			9693043, 8769426	Standard	NM_003162		Approved	SG2NA	uc002rpn.3	O43815	OTTHUMG00000100959	ENST00000263918.4:c.1509T>C	2.37:g.37094995A>G			Q3KP65|Q53TQ8|Q9NP38	Silent	SNP	ENST00000263918.4	37	CCDS1784.1																																																																																				0.299	STRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218568.1			G	37094995	A	G	37094995	2	3	692	1	0	0	0	0	0	0	0	1	15334	291	11	3		3	STRN	2	37094995	Silent	SNP	A	TCGA-KL-8323-01A-21D-2310-10		37094995	206104378	8	38250											
THADA	63892	broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	43507026	43507026	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr2:43507026T>C	ENST00000405006.4	-	36	5525	c.5174A>G	c.(5173-5175)gAt>gGt	p.D1725G	THADA_ENST00000330266.7_Intron|THADA_ENST00000415080.2_Missense_Mutation_p.D1406G|THADA_ENST00000405975.2_Missense_Mutation_p.D1725G	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1725										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				AGCAAGTGTATCCTGCAACTC	0.473																																																0													52	50	51					2																	43507026		1941	4148	6089	SO:0001583	missense	63892			AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.5174A>G	2.37:g.43507026T>C	ENSP00000385995:p.Asp1725Gly		A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	ENST00000405006.4	37	CCDS46268.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.26|13.26	2.182988|2.182988	0.38511|0.38511	.|.	.|.	ENSG00000115970|ENSG00000115970	ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006|ENST00000407351	T;T;T|.	0.12879|.	2.89;2.64;2.89|.	5.14|5.14	2.51|2.51	0.30379|0.30379	.|.	0.302295|.	0.30547|.	N|.	0.009382|.	T|T	0.34337|0.34337	0.0894|0.0894	L|L	0.41824|0.41824	1.3|1.3	0.25115|0.25115	N|N	0.990682|0.990682	B;B|.	0.26483|.	0.15;0.125|.	B;B|.	0.22601|.	0.04;0.026|.	T|T	0.22347|0.22347	-1.0219|-1.0219	10|5	0.22706|.	T|.	0.39|.	-25.4555|-25.4555	4.9913|4.9913	0.14216|0.14216	0.0:0.0963:0.1842:0.7195|0.0:0.0963:0.1842:0.7195	.|.	1652;1725|.	B6ZDQ0;Q6YHU6|.	.;THADA_HUMAN|.	G|V	1725;1652;1406;1725|965	ENSP00000386088:D1725G;ENSP00000416048:D1406G;ENSP00000385995:D1725G|.	ENSP00000349464:D1652G|.	D|I	-|-	2|1	0|0	THADA|THADA	43360530|43360530	0.992000|0.992000	0.36948|0.36948	0.997000|0.997000	0.53966|0.53966	0.998000|0.998000	0.95712|0.95712	0.517000|0.517000	0.22832|0.22832	0.761000|0.761000	0.33130|0.33130	0.533000|0.533000	0.62120|0.62120	GAT|ATA		0.473	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065		C	43507026	T	C	43507026	3	2	692	1	0	0	0	0	1	0	0	0	15845	1435	50	3	699	3	THADA	2	43507026	Missense_Mutation	SNP	T	TCGA-KL-8323-01A-21D-2310-10	6412031	43507026	199692347	9	38251											
SMYD1	150572	broad.mit.edu	37	2	88387571	88387571	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr2:88387571T>C	ENST00000419482.2	+	3	590	c.505T>C	c.(505-507)Tac>Cac	p.Y169H	SMYD1_ENST00000444564.2_Missense_Mutation_p.Y169H|SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000468008.1_3'UTR	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	169	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						CAGCATGCAGTACATCTCGCA	0.612																																																0													113	74	87					2																	88387571		2203	4300	6503	SO:0001583	missense	150572			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.505T>C	2.37:g.88387571T>C	ENSP00000393453:p.Tyr169His		A0AV30|A6NE13	Missense_Mutation	SNP	ENST00000419482.2	37	CCDS33240.1	.	.	.	.	.	.	.	.	.	.	T	17.71	3.457883	0.63401	.	.	ENSG00000115593	ENST00000419482;ENST00000444564;ENST00000295833	T;T	0.81415	-1.49;-1.49	5.04	5.04	0.67666	SET domain (2);	0.228496	0.46442	D	0.000286	D	0.82770	0.5109	L	0.36672	1.1	0.80722	D	1	D	0.60575	0.988	D	0.67103	0.949	T	0.83212	-0.0073	10	0.52906	T	0.07	-25.3302	10.3599	0.43987	0.0:0.0804:0.0:0.9196	.	169	Q8NB12	SMYD1_HUMAN	H	169;169;3	ENSP00000393453:Y169H;ENSP00000407888:Y169H	ENSP00000295833:Y3H	Y	+	1	0	SMYD1	88168686	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.230000	0.51286	2.007000	0.58848	0.459000	0.35465	TAC		0.612	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338229.2	XM_097915		C	88387571	T	C	88387571	3	2	692	1	0	0	0	0	1	0	0	0	14827	1638	57	3	515	3	SMYD1	2	88387571	Missense_Mutation	SNP	T	TCGA-KL-8323-01A-21D-2310-10	44880545	88387571	154811802	10	38252											
RGPD4	285190	ucsc.edu	37	2	108487266	108487266	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr2:108487266G>A	ENST00000408999.3	+	20	2883	c.2806G>A	c.(2806-2808)Gaa>Aaa	p.E936K	RGPD4_ENST00000354986.4_Missense_Mutation_p.E936K	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	936					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TCAAGAAAAGGAAAGTGAAAA	0.408																																																0													198	153	167					2																	108487266		692	1586	2278	SO:0001583	missense	285190			BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"Tetratricopeptide (TTC) repeat domain containing"	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.2806G>A	2.37:g.108487266G>A	ENSP00000386810:p.Glu936Lys		B9A029	Missense_Mutation	SNP	ENST00000408999.3	37	CCDS46381.1	.	.	.	.	.	.	.	.	.	.	-	0.001	-3.008718	0.00043	.	.	ENSG00000196862	ENST00000354986;ENST00000408999;ENST00000439322	T;T	0.36878	1.23;1.23	2.33	1.17	0.20885	.	.	.	.	.	T	0.06872	0.0175	N	0.00197	-1.87	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37244	-0.9714	9	0.02654	T	1	-1.0096	6.0551	0.19807	0.5942:0.0:0.4058:0.0	.	936	Q7Z3J3	RGPD4_HUMAN	K	936;936;694	ENSP00000347081:E936K;ENSP00000386810:E936K	ENSP00000347081:E936K	E	+	1	0	RGPD4	107853698	0.375000	0.25089	0.383000	0.26132	0.198000	0.23893	1.757000	0.38400	0.141000	0.18875	-1.867000	0.00556	GAA		0.408	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2	XM_496581		A	108487266	G	A	108487266	3	1	692	1	0	0	0	0	1	0	0	0	13294	1175	41	2	2884	2	RGPD4	2	108487266	Missense_Mutation	SNP	G	TCGA-KL-8323-01A-21D-2310-10	20099695	108487266	134712107	11	38253											
CCDC74A	90557	broad.mit.edu;mdanderson.org	37	2	132290278	132290278	+	Missense_Mutation	SNP	G	G	A	rs138310081	byFrequency	TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr2:132290278G>A	ENST00000295171.6	+	5	938	c.800G>A	c.(799-801)cGa>cAa	p.R267Q	CCDC74A_ENST00000409856.3_Missense_Mutation_p.R201Q|CCDC74A_ENST00000467992.2_3'UTR	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	267										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						CTTCCCCTGCGAAAGCCCACC	0.642													g|||	15	0.00299521	0.0106	0.0	5008	,	,		18428	0.0		0.0	False		,,,				2504	0.001															0								G	GLN/ARG	34,4372		0,34,2169	76	79	78		800	1.7	1	2	dbSNP_134	78	0,8600		0,0,4300	no	missense	CCDC74A	NM_138770.1	43	0,34,6469	AA,AG,GG		0.0,0.7717,0.2614	probably-damaging	267/379	132290278	34,12972	2203	4300	6503	SO:0001583	missense	90557				CCDS2167.1, CCDS58732.1, CCDS74578.1	2q21.1	2008-02-05		2006-02-16	ENSG00000163040	ENSG00000163040			25197	protein-coding gene	gene with protein product						12477932	Standard	NM_138770		Approved	FLJ40345	uc002ttb.4	Q96AQ1	OTTHUMG00000131667	ENST00000295171.6:c.800G>A	2.37:g.132290278G>A	ENSP00000295171:p.Arg267Gln		Q6P4I5	Missense_Mutation	SNP	ENST00000295171.6	37	CCDS2167.1	.	.	.	.	.	.	.	.	.	.	.	10.85	1.465782	0.26335	0.007717	0.0	ENSG00000163040	ENST00000295171;ENST00000409856	T;T	0.55052	0.54;0.54	2.66	1.72	0.24424	.	0.235784	0.21781	U	0.069216	T	0.50154	0.1599	L	0.46741	1.465	0.80722	D	1	D;P	0.89917	1.0;0.727	D;B	0.79108	0.992;0.035	T	0.56318	-0.7999	10	0.72032	D	0.01	.	4.841	0.13491	0.1891:0.0:0.8109:0.0	.	201;267	Q96AQ1-2;Q96AQ1	.;CC74A_HUMAN	Q	267;201	ENSP00000295171:R267Q;ENSP00000387009:R201Q	ENSP00000295171:R267Q	R	+	2	0	CCDC74A	132006748	1.000000	0.71417	0.991000	0.47740	0.057000	0.15508	1.217000	0.32455	1.192000	0.43071	0.194000	0.17425	CGA		0.642	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254570.2	NM_138770		A	132290278	G	A	132290278	3	1	692	1	0	0	0	0	1	0	0	0	2849	1058	37	1	818	1	CCDC74A	2	132290278	Missense_Mutation	SNP	G	TCGA-KL-8323-01A-21D-2310-10	23803012	132290278	110909095	12	38254											
CCDC74A	90557	broad.mit.edu;mdanderson.org	37	2	132290352	132290352	+	Missense_Mutation	SNP	G	G	C	rs376130814		TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr2:132290352G>C	ENST00000295171.6	+	5	1012	c.874G>C	c.(874-876)Gag>Cag	p.E292Q	CCDC74A_ENST00000409856.3_Missense_Mutation_p.E226Q|CCDC74A_ENST00000467992.2_3'UTR	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	292										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						GCAGACCCAAGAGGTGAGGCC	0.652																																																0								G	GLN/GLU	0,4404		0,0,2202	32	35	34		874	2.7	1	2		34	2,8588		0,2,4293	no	missense	CCDC74A	NM_138770.1	29	0,2,6495	CC,CG,GG		0.0233,0.0,0.0154	probably-damaging	292/379	132290352	2,12992	2202	4295	6497	SO:0001583	missense	90557				CCDS2167.1, CCDS58732.1, CCDS74578.1	2q21.1	2008-02-05		2006-02-16	ENSG00000163040	ENSG00000163040			25197	protein-coding gene	gene with protein product						12477932	Standard	NM_138770		Approved	FLJ40345	uc002ttb.4	Q96AQ1	OTTHUMG00000131667	ENST00000295171.6:c.874G>C	2.37:g.132290352G>C	ENSP00000295171:p.Glu292Gln		Q6P4I5	Missense_Mutation	SNP	ENST00000295171.6	37	CCDS2167.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	14.21|14.21	2.466460|2.466460	0.43839|0.43839	0.0|0.0	2.33E-4|2.33E-4	ENSG00000163040|ENSG00000163040	ENST00000295171;ENST00000409856|ENST00000434330	T;T|T	0.53206|0.55930	0.63;0.63|0.49	2.66|2.66	2.66|2.66	0.31614|0.31614	.|.	0.000000|.	0.36854|.	U|.	0.002376|.	T|T	0.60818|0.60818	0.2298|0.2298	M|M	0.72894|0.72894	2.215|2.215	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.968|.	D;D|.	0.80764|.	0.994;0.969|.	T|T	0.61710|0.61710	-0.7007|-0.7007	10|7	0.87932|0.51188	D|T	0|0.08	.|.	9.0698|9.0698	0.36486|0.36486	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	226;292|.	Q96AQ1-2;Q96AQ1|.	.;CC74A_HUMAN|.	Q|N	292;226|180	ENSP00000295171:E292Q;ENSP00000387009:E226Q|ENSP00000406839:K180N	ENSP00000295171:E292Q|ENSP00000406839:K180N	E|K	+|+	1|3	0|2	CCDC74A|CCDC74A	132006822|132006822	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.289000|0.289000	0.27227|0.27227	4.189000|4.189000	0.58358|0.58358	1.192000|1.192000	0.43071|0.43071	0.194000|0.194000	0.17425|0.17425	GAG|AAG		0.652	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254570.2	NM_138770		C	132290352	G	C	132290352	3	2	692	1	0	0	0	0	1	0	0	0	2849	943	33	4	892	4	CCDC74A	2	132290352	Missense_Mutation	SNP	G	TCGA-KL-8323-01A-21D-2310-10	74	132290352	110909021	13	38255											
NEB	4703	broad.mit.edu	37	2	152350685	152350685	+	Missense_Mutation	SNP	T	T	C	rs200544122		TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr2:152350685T>C	ENST00000172853.10	-	141	19148	c.19001A>G	c.(19000-19002)aAc>aGc	p.N6334S	NEB_ENST00000498015.2_Intron|NEB_ENST00000509223.2_Missense_Mutation_p.N134S|NEB_ENST00000427231.2_Missense_Mutation_p.N8190S|NEB_ENST00000603639.1_Missense_Mutation_p.N8190S|NEB_ENST00000397345.3_Missense_Mutation_p.N8190S|RIF1_ENST00000457745.1_Intron|NEB_ENST00000409198.1_Missense_Mutation_p.N6334S|NEB_ENST00000397336.2_Missense_Mutation_p.N165S|NEB_ENST00000604864.1_Missense_Mutation_p.N8190S			P20929	NEBU_HUMAN	nebulin	6334					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)		CGAGCTAATGTTTTCTTGATT	0.428																																																0													109	90	96					2																	152350685		1881	4117	5998	SO:0001583	missense	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.19001A>G	2.37:g.152350685T>C	ENSP00000172853:p.Asn6334Ser		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		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	T|T	15.08|15.08	2.728603|2.728603	0.48833|0.48833	.|.	.|.	ENSG00000183091|ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853;ENST00000397336;ENST00000509223|ENST00000397337;ENST00000434685	T;T;T;T;T;T;T|.	0.51325|.	0.71;0.71;0.71;0.71;0.71;0.71;0.71|.	5.82|5.82	5.82|5.82	0.92795|0.92795	.|.	0.092478|.	0.46758|.	D|.	0.000265|.	D|D	0.83275|0.83275	0.5219|0.5219	M|M	0.88979|0.88979	2.995|2.995	0.50171|0.50171	D|D	0.999852|0.999852	B;B;B;P;P;D|.	0.69078|.	0.445;0.087;0.019;0.938;0.932;0.997|.	P;B;B;P;D;D|.	0.67103|.	0.497;0.232;0.05;0.785;0.949;0.93|.	D|D	0.86179|0.86179	0.1605|0.1605	10|5	0.29301|.	T|.	0.29|.	.|.	15.8312|15.8312	0.78752|0.78752	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	134;165;134;6334;2734;8190|.	B7Z6B9;B7Z6P9;B7Z6N8;P20929;Q14215;F8WCL5|.	.;.;.;NEBU_HUMAN;.;.|.	S|A	6334;8190;8190;2352;2734;6334;165;134|324;493	ENSP00000386259:N6334S;ENSP00000380505:N8190S;ENSP00000416578:N8190S;ENSP00000410961:N2734S;ENSP00000172853:N6334S;ENSP00000380497:N165S;ENSP00000427083:N134S|.	ENSP00000172853:N6334S|.	N|T	-|-	2|1	0|0	NEB|NEB	152058931|152058931	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.356000|4.356000	0.59430|0.59430	2.207000|2.207000	0.71202|0.71202	0.533000|0.533000	0.62120|0.62120	AAC|ACA		0.428	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		C	152350685	T	C	152350685	3	2	692	1	0	0	0	0	1	0	0	0	10304	1725	60	3	1044	3	NEB	2	152350685	Missense_Mutation	SNP	T	TCGA-KL-8323-01A-21D-2310-10	20060333	152350685	90848688	14	38256											
DLX2	1746	hgsc.bcm.edu	37	2	172966928	172966928	+	Silent	SNP	G	G	T	rs143444914		TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr2:172966928G>T	ENST00000234198.4	-	1	700	c.339C>A	c.(337-339)acC>acA	p.T113T	DLX2_ENST00000466293.2_Silent_p.T113T|AC104801.1_ENST00000448117.1_lincRNA	NM_004405.3	NP_004396.1	Q07687	DLX2_HUMAN	distal-less homeobox 2	113					brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|cartilage development (GO:0051216)|cerebral cortex GABAergic interneuron fate commitment (GO:0021893)|embryonic cranial skeleton morphogenesis (GO:0048701)|hippocampus development (GO:0021766)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb development (GO:0021772)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|subpallium development (GO:0021544)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded RNA binding (GO:0003727)			endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.216)			TGTAGGCGGCGGTGTAGCCCA	0.602													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15923	0.0		0.0	False		,,,				2504	0.0				GBM(188;775 2993 11256 23072)											0								G		1,4405	2.1+/-5.4	0,1,2202	139	132	134		339	0.3	1	2	dbSNP_134	134	0,8600		0,0,4300	no	coding-synonymous	DLX2	NM_004405.3		0,1,6502	TT,TG,GG		0.0,0.0227,0.0077		113/329	172966928	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1746			U51003	CCDS2248.1	2q31.1	2011-06-20	2005-12-22		ENSG00000115844	ENSG00000115844		"Homeoboxes / ANTP class : NKL subclass"	2915	protein-coding gene	gene with protein product		126255	"distal-less homeo box 2"			1354641	Standard	NM_004405		Approved	TES-1	uc002uhn.3	Q07687	OTTHUMG00000132276	ENST00000234198.4:c.339C>A	2.37:g.172966928G>T			B4DMK4|B7ZA14	Silent	SNP	ENST00000234198.4	37	CCDS2248.1																																																																																				0.602	DLX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255368.3			T	172966928	G	T	172966928	2	4	692	1	0	0	0	0	0	0	0	1	4573	1103	39	4		4	DLX2	2	172966928	Silent	SNP	G	TCGA-KL-8323-01A-21D-2310-10	20616243	172966928	70232445	15	38257											
HDAC4	9759	ucsc.edu	37	2	240033259	240033259	+	Silent	SNP	A	A	G			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr2:240033259A>G	ENST00000345617.3	-	14	2717	c.1926T>C	c.(1924-1926)tcT>tcC	p.S642S	HDAC4_ENST00000543185.1_Silent_p.S226S|HDAC4_ENST00000541256.1_Silent_p.S616S	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	642					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)		GCTCCTGCACAGACACGGGGA	0.701																																																0													26	23	24					2																	240033259		2199	4299	6498	SO:0001819	synonymous_variant	9759			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.1926T>C	2.37:g.240033259A>G			Q9UND6	Silent	SNP	ENST00000345617.3	37	CCDS2529.1																																																																																				0.701	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	NM_006037		G	240033259	A	G	240033259	2	3	692	1	0	0	0	0	0	0	0	1	7011	175	7	3		3	HDAC4	2	240033259	Silent	SNP	A	TCGA-KL-8323-01A-21D-2310-10	67066331	240033259	3166114	16	38258											
GAL3ST2	64090	broad.mit.edu;ucsc.edu	37	2	242741375	242741375	+	Missense_Mutation	SNP	C	C	T	rs376256085		TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr2:242741375C>T	ENST00000192314.6	+	3	430	c.299C>T	c.(298-300)gCg>gTg	p.A100V	AC114730.5_ENST00000437438.1_RNA	NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	100					biosynthetic process (GO:0009058)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)			endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		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;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		CTCTTCCTGGCGCGCTACGTG	0.662																																																0													46	44	44					2																	242741375		2201	4300	6501	SO:0001583	missense	64090			AB040610	CCDS33427.1	2q37.2	2014-05-19			ENSG00000154252	ENSG00000154252		"Sulfotransferases, membrane-bound"	24869	protein-coding gene	gene with protein product		608237				11029462	Standard	NM_022134		Approved	GP3ST	uc002wcj.1	Q9H3Q3	OTTHUMG00000151473	ENST00000192314.6:c.299C>T	2.37:g.242741375C>T	ENSP00000192314:p.Ala100Val		Q17RK0|Q57Z52	Missense_Mutation	SNP	ENST00000192314.6	37	CCDS33427.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.797667	0.50208	.	.	ENSG00000154252	ENST00000192314	T	0.16897	2.31	3.8	3.8	0.43715	.	0.293227	0.29451	N	0.012115	T	0.16811	0.0404	L	0.31157	0.91	0.30871	N	0.732501	D	0.54207	0.965	P	0.47891	0.56	T	0.03514	-1.1029	10	0.25106	T	0.35	-12.4576	14.3673	0.66815	0.0:1.0:0.0:0.0	.	100	Q9H3Q3	G3ST2_HUMAN	V	100	ENSP00000192314:A100V	ENSP00000192314:A100V	A	+	2	0	GAL3ST2	242390048	0.290000	0.24343	0.957000	0.39632	0.024000	0.10985	3.739000	0.55075	2.118000	0.64928	0.306000	0.20318	GCG		0.662	GAL3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322792.1	NM_022134		T	242741375	C	T	242741375	3	4	692	1	0	0	0	0	1	0	0	0	6200	768	27	1	309	1	GAL3ST2	2	242741375	Missense_Mutation	SNP	C	TCGA-KL-8323-01A-21D-2310-10	2708116	242741375	457998	17	38259											
VILL	50853	broad.mit.edu	37	3	38040855	38040855	+	Silent	SNP	C	C	T			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr3:38040855C>T	ENST00000283713.6	+	11	1373	c.1107C>T	c.(1105-1107)gaC>gaT	p.D369D	VILL_ENST00000465644.1_Silent_p.D87D|VILL_ENST00000383759.2_Silent_p.D369D			O15195	VILL_HUMAN	villin-like	369					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)		TAAAGCTGGACGTGGGCAAGC	0.627																																																0													98	83	88					3																	38040855		2203	4300	6503	SO:0001819	synonymous_variant	50853				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.1107C>T	3.37:g.38040855C>T			A8MZP1|Q9BT80|Q9BWH7	Silent	SNP	ENST00000283713.6	37	CCDS2670.2																																																																																				0.627	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253360.3	NM_015873		T	38040855	C	T	38040855	2	4	692	1	0	0	0	0	0	0	0	1	17170	535	19	1		1	VILL	3	38040855	Silent	SNP	C	TCGA-KL-8323-01A-21D-2310-10		38040855	159981575	18	38260											
GPR27	2850	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	3	71804279	71804279	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr3:71804279G>A	ENST00000304411.2	+	1	1079	c.1079G>A	c.(1078-1080)cGg>cAg	p.R360Q	EIF4E3_ENST00000421769.2_5'Flank|EIF4E3_ENST00000448225.1_5'Flank|EIF4E3_ENST00000295612.3_5'Flank	NM_018971.1	NP_061844.1	Q9NS67	GPR27_HUMAN	G protein-coupled receptor 27	360					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			kidney(1)|lung(2)|ovary(1)|prostate(1)	5		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)		CAGAGCCCCCGGACCACCCAG	0.642																																																0													12	12	12					3																	71804279		2103	4141	6244	SO:0001583	missense	2850			AB040799	CCDS2915.1	3p21-p14	2012-08-21			ENSG00000170837	ENSG00000170837		"GPCR / Class A : Orphans"	4482	protein-coding gene	gene with protein product		605187				10833454	Standard	NM_018971		Approved	SREB1	uc011bge.2	Q9NS67	OTTHUMG00000158810	ENST00000304411.2:c.1079G>A	3.37:g.71804279G>A	ENSP00000303149:p.Arg360Gln			Missense_Mutation	SNP	ENST00000304411.2	37	CCDS2915.1	.	.	.	.	.	.	.	.	.	.	G	5.821	0.335788	0.11013	.	.	ENSG00000170837	ENST00000304411	T	0.38077	1.16	4.71	-0.255	0.12988	.	0.263235	0.31167	N	0.008121	T	0.12475	0.0303	N	0.04508	-0.205	0.22975	N	0.998484	B	0.06786	0.001	B	0.04013	0.001	T	0.33317	-0.9873	10	0.07482	T	0.82	-4.752	8.3324	0.32195	0.6664:0.0:0.3336:0.0	.	360	Q9NS67	GPR27_HUMAN	Q	360	ENSP00000303149:R360Q	ENSP00000303149:R360Q	R	+	2	0	GPR27	71886969	.	.	0.985000	0.45067	0.974000	0.67602	.	.	-0.052000	0.13311	-0.384000	0.06662	CGG		0.642	GPR27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352303.1	NM_018971		A	71804279	G	A	71804279	3	1	692	1	0	0	0	0	1	0	0	0	6687	1116	39	1	1081	1	GPR27	3	71804279	Missense_Mutation	SNP	G	TCGA-KL-8323-01A-21D-2310-10	33763424	71804279	126218151	19	38261											
VEPH1	79674	broad.mit.edu	37	3	157082297	157082297	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr3:157082297T>C	ENST00000362010.2	-	8	1439	c.1132A>G	c.(1132-1134)Aaa>Gaa	p.K378E	RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000543418.1_Missense_Mutation_p.K378E|VEPH1_ENST00000392833.2_Missense_Mutation_p.K378E|VEPH1_ENST00000392832.2_Missense_Mutation_p.K378E	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	378						plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			GTGCTGATTTTTCTCCTAAAG	0.353																																																0													95	91	92					3																	157082297		2203	4300	6503	SO:0001583	missense	79674			AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"Pleckstrin homology (PH) domain containing"	25735	protein-coding gene	gene with protein product		609594	"ventricular zone expressed PH domain homolog 1 (zebrafish)"			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.1132A>G	3.37:g.157082297T>C	ENSP00000354919:p.Lys378Glu		D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Missense_Mutation	SNP	ENST00000362010.2	37	CCDS3179.1	.	.	.	.	.	.	.	.	.	.	T	9.139	1.013384	0.19277	.	.	ENSG00000197415	ENST00000392833;ENST00000362010;ENST00000543418;ENST00000392832	T;T;T;T	0.08896	3.04;3.05;3.04;3.05	5.61	1.96	0.26148	.	0.275741	0.39341	N	0.001393	T	0.03390	0.0098	N	0.14661	0.345	0.58432	D	0.999997	B;B	0.06786	0.0;0.001	B;B	0.08055	0.003;0.002	T	0.40270	-0.9572	10	0.02654	T	1	0.0063	5.7345	0.18059	0.0:0.506:0.0:0.494	.	378;378	Q14D04-2;Q14D04	.;MELT_HUMAN	E	378	ENSP00000376578:K378E;ENSP00000354919:K378E;ENSP00000446258:K378E;ENSP00000376577:K378E	ENSP00000354919:K378E	K	-	1	0	VEPH1	158564991	1.000000	0.71417	0.716000	0.30569	0.861000	0.49209	3.419000	0.52728	0.420000	0.25954	0.528000	0.53228	AAA		0.353	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	NM_024621		C	157082297	T	C	157082297	3	2	692	1	0	0	0	0	1	0	0	0	17159	1850	64	3	1397	3	VEPH1	3	157082297	Missense_Mutation	SNP	T	TCGA-KL-8323-01A-21D-2310-10	85278018	157082297	40940133	20	38262											
ZBBX	79740	ucsc.edu	37	3	166960302	166960302	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr3:166960302T>C	ENST00000392766.2	-	20	2607	c.2267A>G	c.(2266-2268)gAg>gGg	p.E756G	ZBBX_ENST00000307529.5_Missense_Mutation_p.E795G|ZBBX_ENST00000455345.2_Missense_Mutation_p.E795G|ZBBX_ENST00000392767.2_Missense_Mutation_p.E756G|ZBBX_ENST00000392764.1_Missense_Mutation_p.E727G	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	756						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						CCTCAATTCCTCAACTCCACA	0.353																																																0													86	81	82					3																	166960302		1810	4064	5874	SO:0001583	missense	79740			AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.2267A>G	3.37:g.166960302T>C	ENSP00000376519:p.Glu756Gly		A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	ENST00000392766.2	37	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	T	11.65	1.702067	0.30232	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42	5.01	2.62	0.31277	.	0.308843	0.27336	N	0.019836	T	0.41096	0.1144	L	0.44542	1.39	0.09310	N	1	B;B	0.13594	0.008;0.005	B;B	0.13407	0.009;0.004	T	0.38693	-0.9649	10	0.87932	D	0	-2.0389	6.6105	0.22749	0.0:0.1936:0.0:0.8064	.	795;756	A8MT70-2;A8MT70	.;ZBBX_HUMAN	G	756;756;795;795;727	ENSP00000376519:E756G;ENSP00000376520:E756G;ENSP00000390232:E795G;ENSP00000305065:E795G;ENSP00000376517:E727G	ENSP00000305065:E795G	E	-	2	0	ZBBX	168442996	0.098000	0.21812	0.067000	0.19924	0.024000	0.10985	1.233000	0.32648	0.268000	0.21939	0.482000	0.46254	GAG		0.353	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		C	166960302	T	C	166960302	3	2	692	1	0	0	0	0	1	0	0	0	17521	1551	54	3	143	3	ZBBX	3	166960302	Missense_Mutation	SNP	T	TCGA-KL-8323-01A-21D-2310-10	9878005	166960302	31062128	21	38263											
AADAT	51166	broad.mit.edu	37	4	171009684	171009684	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr4:171009684C>T	ENST00000337664.4	-	2	375	c.99G>A	c.(97-99)atG>atA	p.M33I	AADAT_ENST00000353187.2_Missense_Mutation_p.M33I|AADAT_ENST00000509167.1_Missense_Mutation_p.M37I|AADAT_ENST00000515480.1_Missense_Mutation_p.M33I	NM_016228.3	NP_057312.1	Q8N5Z0	AADAT_HUMAN	aminoadipate aminotransferase	33					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)		CCAAGGAGATCATCGATTTTG	0.388																																																0													152	133	139					4																	171009684		2203	4300	6503	SO:0001583	missense	51166			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.99G>A	4.37:g.171009684C>T	ENSP00000336808:p.Met33Ile		B3KP84|Q9UL02	Missense_Mutation	SNP	ENST00000337664.4	37	CCDS3814.1	.	.	.	.	.	.	.	.	.	.	C	0.137	-1.107192	0.01813	.	.	ENSG00000109576	ENST00000337664;ENST00000515480;ENST00000509167;ENST00000353187;ENST00000510340;ENST00000507375;ENST00000502392	T;T;T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;2.2;2.2;2.2	5.19	3.43	0.39272	Pyridoxal phosphate-dependent transferase, major domain (1);	0.671285	0.15651	N	0.251382	T	0.18002	0.0432	N	0.05510	-0.035	0.23425	N	0.9977	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.003	T	0.20042	-1.0287	10	0.29301	T	0.29	0.8926	8.1753	0.31278	0.0:0.2958:0.4236:0.2806	.	37;33	Q8N5Z0-2;Q8N5Z0	.;AADAT_HUMAN	I	33;33;37;33;24;33;33	ENSP00000336808:M33I;ENSP00000423341:M33I;ENSP00000423190:M37I;ENSP00000226840:M33I;ENSP00000425067:M24I;ENSP00000421389:M33I;ENSP00000423843:M33I	ENSP00000336808:M33I	M	-	3	0	AADAT	171246259	1.000000	0.71417	0.606000	0.28943	0.002000	0.02628	1.159000	0.31749	0.543000	0.28864	-0.165000	0.13383	ATG		0.388	AADAT-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000362952.1	NM_016228		T	171009684	C	T	171009684	3	4	692	1	0	0	0	0	1	0	0	0	14	826	29	2	1226	2	AADAT	4	171009684	Missense_Mutation	SNP	C	TCGA-KL-8323-01A-21D-2310-10		171009684	20144592	22	38264											
POU5F2	134187	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	5	93076393	93076393	+	Missense_Mutation	SNP	G	G	C			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr5:93076393G>C	ENST00000510627.4	-	1	950	c.877C>G	c.(877-879)Cac>Gac	p.H293D	FAM172A_ENST00000395965.3_Intron|FAM172A_ENST00000509163.1_Intron|FAM172A_ENST00000509739.1_Intron|FAM172A_ENST00000505869.1_Intron|RP11-185E12.2_ENST00000606528.1_RNA|POU5F2_ENST00000606183.1_5'UTR	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	293					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-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;0.0415)|all cancers(79;2.03e-19)		AGTCCCAGGTGAAAGCACACT	0.617																																																0													35	39	38					5																	93076393		1920	4110	6030	SO:0001583	missense	134187				CCDS59489.1	5q15	2011-06-20				ENSG00000248483		"Homeoboxes / POU class"	26367	protein-coding gene	gene with protein product						7908264	Standard	NM_153216		Approved	SPRM-1, FLJ25680	uc003kkl.1	Q8N7G0		ENST00000510627.4:c.877C>G	5.37:g.93076393G>C	ENSP00000464890:p.His293Asp		Q15169|Q6MZL7|Q8N748	Missense_Mutation	SNP	ENST00000510627.4	37	CCDS59489.1																																																																																				0.617	POU5F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369873.5	NM_153216		C	93076393	G	C	93076393	3	2	692	1	0	0	0	0	1	0	0	0	12285	1290	45	4	113	4	POU5F2	5	93076393	Missense_Mutation	SNP	G	TCGA-KL-8323-01A-21D-2310-10		93076393	87838867	23	38265											
MEGF10	84466	ucsc.edu	37	5	126755867	126755867	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr5:126755867T>C	ENST00000274473.6	+	13	1825	c.1558T>C	c.(1558-1560)Tgg>Cgg	p.W520R	MEGF10_ENST00000418761.2_Missense_Mutation_p.W520R|MEGF10_ENST00000508365.1_Missense_Mutation_p.W520R|MEGF10_ENST00000503335.2_Missense_Mutation_p.W520R	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	520	EGF-like 9. {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)		TGCACCTGGATGGCGCGGGGA	0.562																																																0													84	72	76					5																	126755867		2203	4300	6503	SO:0001583	missense	84466			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.1558T>C	5.37:g.126755867T>C	ENSP00000274473:p.Trp520Arg		Q68DE5|Q8WUL3	Missense_Mutation	SNP	ENST00000274473.6	37	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.614955	0.87359	.	.	ENSG00000145794	ENST00000503335;ENST00000508365;ENST00000418761;ENST00000274473	T;T;T;T	0.55052	0.54;0.54;0.54;0.54	5.72	5.72	0.89469	Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000001	T	0.71409	0.3336	M	0.86097	2.795	0.80722	D	1	P;P	0.47034	0.55;0.889	B;P	0.54815	0.412;0.761	T	0.76255	-0.3026	10	0.66056	D	0.02	-22.1087	16.2962	0.82776	0.0:0.0:0.0:1.0	.	520;520	Q96KG7-2;Q96KG7	.;MEG10_HUMAN	R	520	ENSP00000423354:W520R;ENSP00000423195:W520R;ENSP00000416284:W520R;ENSP00000274473:W520R	ENSP00000274473:W520R	W	+	1	0	MEGF10	126783766	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	7.957000	0.87870	2.304000	0.77564	0.528000	0.53228	TGG		0.562	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446		C	126755867	T	C	126755867	3	2	692	1	0	0	0	0	1	0	0	0	9462	1464	51	3	1600	3	MEGF10	5	126755867	Missense_Mutation	SNP	T	TCGA-KL-8323-01A-21D-2310-10	33679474	126755867	54159393	24	38266											
FAM153B	202134	broad.mit.edu	37	5	175530235	175530235	+	Missense_Mutation	SNP	A	A	C			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr5:175530235A>C	ENST00000253490.4	+	13	727	c.670A>C	c.(670-672)Atc>Ctc	p.I224L	FAM153B_ENST00000510151.1_Missense_Mutation_p.I147L|FAM153B_ENST00000512862.1_Intron|FAM153B_ENST00000515817.1_Missense_Mutation_p.I147L			P0C7A2	F153B_HUMAN	family with sequence similarity 153, member B	224										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)		CCTAGTTCTGATCAGGGATGT	0.507																																																0													165	174	171					5																	175530235		2203	4300	6503	SO:0001583	missense	202134			AK055006	CCDS43401.1, CCDS43401.2	5q35.2	2010-05-12			ENSG00000182230	ENSG00000182230			27323	protein-coding gene	gene with protein product							Standard	NM_001265615		Approved		uc031smb.1	P0C7A2	OTTHUMG00000163181	ENST00000253490.4:c.670A>C	5.37:g.175530235A>C	ENSP00000253490:p.Ile224Leu		A8MTI1	Missense_Mutation	SNP	ENST00000253490.4	37		.	.	.	.	.	.	.	.	.	.	A	1.491	-0.554597	0.03996	.	.	ENSG00000182230	ENST00000515817;ENST00000253490	.	.	.	1.26	-2.53	0.06326	.	.	.	.	.	T	0.16557	0.0398	N	0.08118	0	0.09310	N	1	B	0.15141	0.012	B	0.08055	0.003	T	0.19614	-1.0300	8	0.87932	D	0	.	5.9593	0.19291	0.3919:0.6081:0.0:0.0	.	224	P0C7A2	F153B_HUMAN	L	147;224	.	ENSP00000253490:I224L	I	+	1	0	FAM153B	175462841	0.002000	0.14202	0.000000	0.03702	0.005000	0.04900	0.742000	0.26216	-0.649000	0.05430	0.145000	0.16022	ATC		0.507	FAM153B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001079529		C	175530235	A	C	175530235	3	2	692	1	0	0	0	0	1	0	0	0	5463	333	12	5	720	5	FAM153B	5	175530235	Missense_Mutation	SNP	A	TCGA-KL-8323-01A-21D-2310-10	48774368	175530235	5385025	25	38267											
RMND1	55005	ucsc.edu	37	6	151744763	151744763	+	Silent	SNP	T	T	C			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr6:151744763T>C	ENST00000367303.4	-	7	956	c.834A>G	c.(832-834)ggA>ggG	p.G278G	RMND1_ENST00000336451.3_Silent_p.G67G	NM_017909.2	NP_060379.2	Q9NWS8	RMND1_HUMAN	required for meiotic nuclear division 1 homolog (S. cerevisiae)	278					translation (GO:0006412)	mitochondrion (GO:0005739)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)		GTTTTGACTGTCCCCTGTGAA	0.358																																																0													103	104	104					6																	151744763		2203	4300	6503	SO:0001819	synonymous_variant	55005			AK000634	CCDS5232.1, CCDS75539.1	6q25.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000155906	ENSG00000155906			21176	protein-coding gene	gene with protein product		614917	"chromosome 6 open reading frame 96"	C6orf96			Standard	NM_001271937		Approved	bA351K16.3, FLJ20627, RMD1	uc003qoi.3	Q9NWS8	OTTHUMG00000015837	ENST00000367303.4:c.834A>G	6.37:g.151744763T>C			A8K8H4|Q0VDG6|Q5SZ48|Q5SZ83|Q6NSC5|Q96EN7	Silent	SNP	ENST00000367303.4	37	CCDS5232.1																																																																																				0.358	RMND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042718.2	NM_017909		C	151744763	T	C	151744763	2	2	692	1	0	0	0	0	0	0	0	1	13402	1654	58	3		3	RMND1	6	151744763	Silent	SNP	T	TCGA-KL-8323-01A-21D-2310-10		151744763	19370304	26	38268											
ACCN3	9311	broad.mit.edu;hgsc.bcm.edu	37	7	150746017	150746017	+	Silent	SNP	G	G	A	rs369122567		TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr7:150746017G>A	ENST00000349064.5	+	1	243	c.45G>A	c.(43-45)tcG>tcA	p.S15S	ASIC3_ENST00000357922.4_Silent_p.S15S|ASIC3_ENST00000297512.8_Silent_p.S15S	NM_004769.3|NM_020321.3	NP_004760.1|NP_064717.1	Q9UHC3	ASIC3_HUMAN	acid-sensing (proton-gated) ion channel 3	15					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)										GGCCAGCCTCGGACATCCGCG	0.687																																																0								G	,,	0,4404		0,0,2202	33	42	39		45,45,45	-5.2	0.7	7		39	1,8589		0,1,4294	no	coding-synonymous,coding-synonymous,coding-synonymous	ACCN3	NM_004769.2,NM_020321.2,NM_020322.2	,,	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	,,	15/532,15/550,15/544	150746017	1,12993	2202	4295	6497	SO:0001819	synonymous_variant	9311			AB010575	CCDS5914.1, CCDS5915.1, CCDS5916.1	7q35	2012-02-23	2012-02-22	2012-02-22	ENSG00000213199	ENSG00000213199		"Ion channels / Acid-sensing (proton-gated) ion channels"	101	protein-coding gene	gene with protein product	"testis sodium channel 1"	611741	"amiloride-sensitive cation channel 3, testis", "amiloride-sensitive cation channel 3"	ACCN3		9571199, 9744806	Standard	NM_004769		Approved	TNaC1, DRASIC	uc003wio.3	Q9UHC3	OTTHUMG00000158685	ENST00000349064.5:c.45G>A	7.37:g.150746017G>A			B2R9V0|O60263|O75906|Q59FN9|Q9UER8|Q9UHC4	Silent	SNP	ENST00000349064.5	37	CCDS5916.1																																																																																				0.687	ASIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351725.1	NM_004769		A	150746017	G	A	150746017	2	1	692	1	0	0	0	0	0	0	0	1	130	1103	39	1		1	ACCN3	7	150746017	Silent	SNP	G	TCGA-KL-8323-01A-21D-2310-10		150746017	8392646	27	38269											
PTPRN2	5799	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	7	157931202	157931202	+	Missense_Mutation	SNP	G	G	A	rs370624864		TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr7:157931202G>A	ENST00000389418.4	-	7	925	c.916C>T	c.(916-918)Cgg>Tgg	p.R306W	PTPRN2_ENST00000389413.3_Missense_Mutation_p.R306W|PTPRN2_ENST00000409483.1_Missense_Mutation_p.R268W|PTPRN2_ENST00000389416.4_Missense_Mutation_p.R289W|PTPRN2_ENST00000404321.2_Missense_Mutation_p.R329W	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	306					negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GTATGAATCCGTGCTCCTAGG	0.632																																																0									TRP/ARG,TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	48	51	50		916,865,916	1.8	0	7		50	0,8600		0,0,4300	no	missense,missense,missense	PTPRN2	NM_002847.3,NM_130842.2,NM_130843.2	101,101,101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	306/1016,289/999,306/987	157931202	1,13005	2203	4300	6503	SO:0001583	missense	5799			AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9677	protein-coding gene	gene with protein product	"IAR PTPRP"	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.916C>T	7.37:g.157931202G>A	ENSP00000374069:p.Arg306Trp		E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Missense_Mutation	SNP	ENST00000389418.4	37	CCDS5947.1	.	.	.	.	.	.	.	.	.	.	G	11.60	1.688479	0.29962	2.27E-4	0.0	ENSG00000155093	ENST00000409483;ENST00000389413;ENST00000389416;ENST00000389418;ENST00000404321	T;T;T;T;T	0.02944	4.12;4.1;4.11;4.11;4.1	4.11	1.83	0.25207	.	.	.	.	.	T	0.02380	0.0073	N	0.24115	0.695	0.09310	N	1	D;D;D;D;D	0.59767	0.986;0.975;0.986;0.975;0.975	B;B;B;B;B	0.43783	0.431;0.248;0.431;0.248;0.248	T	0.49753	-0.8906	9	0.39692	T	0.17	.	5.0987	0.14747	0.4449:0.0:0.5551:0.0	.	329;268;306;289;306	Q92932-3;E7EM83;Q92932-2;E9PC57;Q92932	.;.;.;.;PTPR2_HUMAN	W	268;306;289;306;329	ENSP00000387114:R268W;ENSP00000374064:R306W;ENSP00000374067:R289W;ENSP00000374069:R306W;ENSP00000385464:R329W	ENSP00000374064:R306W	R	-	1	2	PTPRN2	157623963	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	0.615000	0.24329	0.267000	0.21916	0.650000	0.86243	CGG		0.632	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1			A	157931202	G	A	157931202	3	1	692	1	0	0	0	0	1	0	0	0	12814	1144	40	1	2199	1	PTPRN2	7	157931202	Missense_Mutation	SNP	G	TCGA-KL-8323-01A-21D-2310-10	7185185	157931202	1207461	28	38270											
ADAM32	203102	ucsc.edu	37	8	38965348	38965348	+	Silent	SNP	A	A	G			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr8:38965348A>G	ENST00000379907.4	+	1	181	c.54A>G	c.(52-54)agA>agG	p.R18R	ADAM32_ENST00000519315.1_Silent_p.R18R|ADAM32_ENST00000437682.2_Missense_Mutation_p.D52G	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	18						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)			TGGCGTCAAGACCCGGTGAGC	0.692																																																0													8	10	10					8																	38965348		1652	3666	5318	SO:0001819	synonymous_variant	203102			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.54A>G	8.37:g.38965348A>G			Q8TC42	Silent	SNP	ENST00000379907.4	37	CCDS47846.1	.	.	.	.	.	.	.	.	.	.	A	10.02	1.235989	0.22626	.	.	ENSG00000197140	ENST00000437682	T	0.05717	3.4	2.78	-3.24	0.05094	.	.	.	.	.	T	0.03434	0.0099	.	.	.	0.20403	N	0.999902	B	0.21688	0.059	B	0.26416	0.069	T	0.45848	-0.9233	8	0.31617	T	0.26	.	0.3329	0.00321	0.3506:0.1976:0.2584:0.1934	.	52	E7EPX8	.	G	52	ENSP00000405978:D52G	ENSP00000405978:D52G	D	+	2	0	ADAM32	39084505	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.152000	0.16302	-0.696000	0.05098	-0.466000	0.05196	GAC		0.692	ADAM32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377089.1	NM_145004		G	38965348	A	G	38965348	2	3	692	1	0	0	0	0	0	0	0	1	249	272	10	3		3	ADAM32	8	38965348	Silent	SNP	A	TCGA-KL-8323-01A-21D-2310-10		38965348	107398674	29	38271											
C9orf95	54981	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	9	77681741	77681741	+	Missense_Mutation	SNP	G	G	T			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr9:77681741G>T	ENST00000361092.4	-	8	748	c.512C>A	c.(511-513)aCa>aAa	p.T171K	NMRK1_ENST00000482537.1_5'UTR|NMRK1_ENST00000376811.1_Missense_Mutation_p.T175K|NMRK1_ENST00000376808.4_Missense_Mutation_p.T147K	NM_017881.2	NP_060351.1	Q9NWW6	NRK1_HUMAN	nicotinamide riboside kinase 1	171					NAD biosynthetic process (GO:0009435)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|ribosylnicotinamide kinase activity (GO:0050262)										TTCAGATTTTGTTCCATCCAG	0.363																																																0													132	126	128					9																	77681741		2203	4300	6503	SO:0001583	missense	54981			AK097144	CCDS6650.1, CCDS47981.1	9q21.31	2012-03-30	2012-03-30	2012-03-30	ENSG00000106733	ENSG00000106733			26057	protein-coding gene	gene with protein product		608704	"chromosome 9 open reading frame 95"	C9orf95		15137942	Standard	NM_017881		Approved	FLJ20559, NRK1, bA235O14.2	uc004ajr.4	Q9NWW6	OTTHUMG00000020034	ENST00000361092.4:c.512C>A	9.37:g.77681741G>T	ENSP00000354387:p.Thr171Lys		Q5W124|Q8N430	Missense_Mutation	SNP	ENST00000361092.4	37	CCDS6650.1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.375440	0.42105	.	.	ENSG00000106733	ENST00000376811;ENST00000376794;ENST00000361092;ENST00000376808	T;T;T	0.36340	1.26;1.26;1.26	5.45	3.61	0.41365	.	0.360554	0.29159	N	0.012968	T	0.44726	0.1307	M	0.83953	2.67	0.43637	D	0.996032	D;P;D	0.59357	0.985;0.884;0.971	P;B;P	0.51999	0.687;0.106;0.614	T	0.54735	-0.8249	10	0.07030	T	0.85	-14.6147	8.1753	0.31278	0.2484:0.0:0.7516:0.0	.	147;175;171	Q9NWW6-2;Q5W125;Q9NWW6	.;.;NRK1_HUMAN	K	175;175;171;147	ENSP00000366007:T175K;ENSP00000354387:T171K;ENSP00000366004:T147K	ENSP00000354387:T171K	T	-	2	0	C9orf95	76871561	1.000000	0.71417	0.994000	0.49952	0.383000	0.30230	2.942000	0.49018	0.680000	0.31366	0.650000	0.86243	ACA		0.363	NMRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052705.1	NM_017881		T	77681741	G	T	77681741	3	4	692	1	0	0	0	0	1	0	0	0	2509	1377	48	4	95	4	C9orf95	9	77681741	Missense_Mutation	SNP	G	TCGA-KL-8323-01A-21D-2310-10		77681741	63531690	30	38272											
NOXA1	377841	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	9	140327707	140327707	+	IGR	SNP	G	G	A			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr9:140327707G>A	ENST00000472938.1	-	0	1749				NOXA1_ENST00000392815.2_Missense_Mutation_p.G245S|NOXA1_ENST00000341349.2_Missense_Mutation_p.G301S			Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8						nucleoside diphosphate biosynthetic process (GO:0009133)|nucleoside monophosphate biosynthetic process (GO:0009124)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)	p.G301C(1)		biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		GGACCCCGCGGGTGCTGGGGT	0.652																																																1	Substitution - Missense(1)	cervix(1)											10	12	11					9																	140327707		2171	4281	6452	SO:0001628	intergenic_variant	10811			AY359088	CCDS7043.1, CCDS43913.1	9q34.3	2013-09-20			ENSG00000188833	ENSG00000188833			24860	protein-coding gene	gene with protein product	"GLSR2492"					12975309	Standard	NM_198585		Approved	UNQ2492, NTPDase-8	uc004cmw.3	Q5MY95	OTTHUMG00000131831		9.37:g.140327707G>A			A2BG17|Q6UVZ0	Missense_Mutation	SNP	ENST00000472938.1	37	CCDS43913.1	.	.	.	.	.	.	.	.	.	.	G	4.715	0.132877	0.09032	.	.	ENSG00000188747	ENST00000341349;ENST00000392815	D;D	0.87029	-1.99;-2.2	2.27	-2.21	0.06973	.	1.949590	0.02659	N	0.107253	T	0.69333	0.3099	N	0.08118	0	0.09310	N	1	B;B;B	0.33318	0.408;0.01;0.007	B;B;B	0.31751	0.135;0.006;0.02	T	0.62959	-0.6743	10	0.09590	T	0.72	.	3.4659	0.07549	0.4195:0.2046:0.3759:0.0	.	245;301;301	Q86UR1-3;Q86UR1;Q86UR1-2	.;NOXA1_HUMAN;.	S	301;245	ENSP00000342848:G301S;ENSP00000376562:G245S	ENSP00000342848:G301S	G	+	1	0	NOXA1	139447528	0.000000	0.05858	0.000000	0.03702	0.111000	0.19643	-0.315000	0.08081	-0.611000	0.05709	0.561000	0.74099	GGT		0.652	ENTPD8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355991.1	NM_198585		A	140327707	G	A	140327707	1	1	692	0	1	0	0	0	0	0	0	0	10562	1232	43	2		2	NOXA1	9	140327707	IGR	SNP	G	TCGA-KL-8323-01A-21D-2310-10	62645966	140327707	885724	31	38273											
CUBN	8029	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	10	16967262	16967262	+	Silent	SNP	G	G	A			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr10:16967262G>A	ENST00000377833.4	-	43	6689	c.6624C>T	c.(6622-6624)atC>atT	p.I2208I		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2208	CUB 15. {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)	CCTCATATTTGATTTTAAATC	0.328																																																0													60	61	60					10																	16967262		2203	4300	6503	SO:0001819	synonymous_variant	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.6624C>T	10.37:g.16967262G>A			B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	CCDS7113.1																																																																																				0.328	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		A	16967262	G	A	16967262	2	1	692	1	0	0	0	0	0	0	0	1	4053	1280	45	2		2	CUBN	10	16967262	Silent	SNP	G	TCGA-KL-8323-01A-21D-2310-10		16967262	118567485	32	38274											
PTEN	5728	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	10	89711966	89711966	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr10:89711966T>C	ENST00000371953.3	+	6	1941	c.584T>C	c.(583-585)tTt>tCt	p.F195S	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	195	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.?(4)|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)		GCACTGTTGTTTCACAAGATG	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)																												yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	phosphatase and tensin homolog gene		"L, E, M, O"	52	Whole gene deletion(37)|Deletion - Frameshift(10)|Unknown(4)|Deletion - In frame(1)	prostate(16)|central_nervous_system(13)|skin(8)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)											154	152	153					10																	89711966		2203	4300	6503	SO:0001583	missense	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.584T>C	10.37:g.89711966T>C	ENSP00000361021:p.Phe195Ser		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	T	32	5.149283	0.94645	.	.	ENSG00000171862	ENST00000371953	D	0.85411	-1.98	5.85	5.85	0.93711	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.092703	0.85682	D	0.000000	D	0.90366	0.6985	L	0.60455	1.87	0.80722	D	1	D	0.76494	0.999	D	0.68483	0.958	D	0.89873	0.4024	9	.	.	.	-4.4487	16.2416	0.82411	0.0:0.0:0.0:1.0	.	195	P60484	PTEN_HUMAN	S	195	ENSP00000361021:F195S	.	F	+	2	0	PTEN	89701946	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.615000	0.83006	2.241000	0.73720	0.477000	0.44152	TTT		0.398	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		C	89711966	T	C	89711966	3	2	692	1	0	0	0	0	1	0	0	0	12743	1841	64	3	606	3	PTEN	10	89711966	Missense_Mutation	SNP	T	TCGA-KL-8323-01A-21D-2310-10	72744704	89711966	45822781	33	38275											
C10orf28	27291	ucsc.edu;bcgsc.ca	37	10	99991273	99991273	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr10:99991273C>T	ENST00000298999.3	+	6	2093	c.1790C>T	c.(1789-1791)tCa>tTa	p.S597L	R3HCC1L_ENST00000370584.3_Missense_Mutation_p.S597L|R3HCC1L_ENST00000314594.5_Missense_Mutation_p.S13L|R3HCC1L_ENST00000370586.2_Missense_Mutation_p.S3L	NM_014472.4	NP_055287	Q7Z5L2	R3HCL_HUMAN	R3H domain and coiled-coil containing 1-like	611							nucleotide binding (GO:0000166)										TTCTAGTTATCAGGGAATACC	0.383																																																0													99	90	93					10																	99991273		2203	4300	6503	SO:0001583	missense	27291			AF525304	CCDS31267.1, CCDS58093.1, CCDS73178.1	10q24.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000166024	ENSG00000166024			23512	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 28"	C10orf28			Standard	NM_014472		Approved	GIDRP86, PSORT	uc001kox.4	Q7Z5L2	OTTHUMG00000018873	ENST00000298999.3:c.1790C>T	10.37:g.99991273C>T	ENSP00000298999:p.Ser597Leu		O60598|Q5W0B4|Q5W0B5|Q86VT9|Q8N9H0	Missense_Mutation	SNP	ENST00000298999.3	37	CCDS31267.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.486925	0.84854	.	.	ENSG00000166024	ENST00000370584;ENST00000298999;ENST00000370586;ENST00000314594;ENST00000544834	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	5.83	5.83	0.93111	.	0.351150	0.27971	N	0.017111	T	0.40619	0.1124	L	0.60455	1.87	0.39744	D	0.971786	B;P;P	0.52842	0.103;0.956;0.843	B;P;P	0.51016	0.058;0.656;0.487	T	0.18967	-1.0320	9	.	.	.	-8.6307	12.9136	0.58192	0.0:0.9218:0.0:0.0782	.	3;611;597	Q7Z5L2-3;Q7Z5L2;Q7Z5L2-2	.;GIDRP_HUMAN;.	L	597;597;3;13;4	ENSP00000359616:S597L;ENSP00000298999:S597L;ENSP00000359618:S3L;ENSP00000314018:S13L	.	S	+	2	0	C10orf28	99981263	0.994000	0.37717	1.000000	0.80357	0.845000	0.48019	1.536000	0.36072	2.744000	0.94065	0.655000	0.94253	TCA		0.383	R3HCC1L-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049764.1	NM_014472		T	99991273	C	T	99991273	3	4	692	1	0	0	0	0	1	0	0	0	1603	838	29	2	1796	2	C10orf28	10	99991273	Missense_Mutation	SNP	C	TCGA-KL-8323-01A-21D-2310-10	10279307	99991273	35543474	34	38276											
PHRF1	57661	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	11	605169	605169	+	Missense_Mutation	SNP	G	G	T			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr11:605169G>T	ENST00000264555.5	+	11	1331	c.1203G>T	c.(1201-1203)agG>agT	p.R401S	PHRF1_ENST00000416188.2_Missense_Mutation_p.R401S|PHRF1_ENST00000533464.1_Missense_Mutation_p.R397S|PHRF1_ENST00000413872.2_Missense_Mutation_p.R400S	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	401	Arg-rich.				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						GCCTGCGCAGGCCTGTTCACA	0.567																																																0													46	49	48					11																	605169		2071	4212	6283	SO:0001583	missense	57661			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.1203G>T	11.37:g.605169G>T	ENSP00000264555:p.Arg401Ser		A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	ENST00000264555.5	37		.	.	.	.	.	.	.	.	.	.	G	7.714	0.695759	0.15106	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	D;D;D;D	0.92199	-2.99;-2.99;-2.99;-2.99	4.65	1.63	0.23807	.	0.620308	0.13443	N	0.387560	T	0.81545	0.4845	N	0.24115	0.695	0.28574	N	0.910468	B;B;B;B	0.24823	0.068;0.112;0.112;0.068	B;B;B;B	0.20955	0.014;0.032;0.032;0.014	T	0.69339	-0.5171	10	0.33141	T	0.24	-17.2271	1.0008	0.01476	0.2743:0.1627:0.397:0.166	.	397;400;401;401	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	S	401;400;401;397	ENSP00000264555:R401S;ENSP00000388589:R400S;ENSP00000410626:R401S;ENSP00000431870:R397S	ENSP00000264555:R401S	R	+	3	2	PHRF1	595169	1.000000	0.71417	0.260000	0.24451	0.024000	0.10985	1.285000	0.33261	0.551000	0.29008	0.563000	0.77884	AGG		0.567	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		T	605169	G	T	605169	3	4	692	1	0	0	0	0	1	0	0	0	11863	1194	42	4	1241	4	PHRF1	11	605169	Missense_Mutation	SNP	G	TCGA-KL-8323-01A-21D-2310-10		605169	134401347	35	38277											
MUC5B	727897	broad.mit.edu	37	11	1270385	1270385	+	Missense_Mutation	SNP	C	C	G			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr11:1270385C>G	ENST00000529681.1	+	31	12333	c.12275C>G	c.(12274-12276)gCc>gGc	p.A4092G	MUC5B_ENST00000447027.1_Missense_Mutation_p.A4095G|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4092	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)		CACACCACGGCCACCTCCAGG	0.701																																																0													89	122	111					11																	1270385		2095	4203	6298	SO:0001583	missense	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.12275C>G	11.37:g.1270385C>G	ENSP00000436812:p.Ala4092Gly		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	c	5.394	0.257910	0.10239	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.17528	2.27;2.46	1.88	-0.722	0.11184	.	.	.	.	.	T	0.17023	0.0409	M	0.67953	2.075	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.29305	-1.0016	9	0.87932	D	0	.	5.417	0.16380	0.0:0.4252:0.3955:0.1793	.	4565;4095	A7Y9J9;E9PBJ0	.;.	G	4092;4095;4036;3942	ENSP00000436812:A4092G;ENSP00000415793:A4095G	ENSP00000343037:A4036G	A	+	2	0	MUC5B	1226961	0.005000	0.15991	0.002000	0.10522	0.162000	0.22319	1.701000	0.37825	-0.378000	0.07918	0.393000	0.25936	GCC		0.701	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		G	1270385	C	G	1270385	3	3	692	1	0	0	0	0	1	0	0	0	9981	739	26	4	12406	4	MUC5B	11	1270385	Missense_Mutation	SNP	C	TCGA-KL-8323-01A-21D-2310-10	665216	1270385	133736131	36	38278											
MED17	9440	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	11	93517753	93517753	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr11:93517753A>G	ENST00000251871.3	+	1	361	c.74A>G	c.(73-75)gAt>gGt	p.D25G	MED17_ENST00000530819.1_Missense_Mutation_p.D25G	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	25					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GTGGGCCTGGATGGCACCGAG	0.672																																																0													43	33	36					11																	93517753		2199	4298	6497	SO:0001583	missense	9440			AF104254	CCDS8295.1	11q21	2007-07-30	2007-07-30	2007-07-30	ENSG00000042429	ENSG00000042429			2375	protein-coding gene	gene with protein product		603810	"cofactor required for Sp1 transcriptional activation, subunit 6 (77kD)", "cofactor required for Sp1 transcriptional activation, subunit 6, 77kDa"	CRSP6		9989412, 10198638	Standard	NM_004268		Approved	CRSP77, TRAP80, DRIP80	uc001pem.4	Q9NVC6	OTTHUMG00000167497	ENST00000251871.3:c.74A>G	11.37:g.93517753A>G	ENSP00000251871:p.Asp25Gly		B3KN07|Q9HA81|Q9UNP7|Q9Y2W0|Q9Y660	Missense_Mutation	SNP	ENST00000251871.3	37	CCDS8295.1	.	.	.	.	.	.	.	.	.	.	A	34	5.386599	0.95967	.	.	ENSG00000042429	ENST00000251871;ENST00000530819;ENST00000427225;ENST00000533359	T;T;T	0.66995	-0.24;0.2;0.26	5.76	5.76	0.90799	.	0.102946	0.64402	D	0.000002	T	0.80798	0.4692	M	0.72118	2.19	0.80722	D	1	D;D	0.71674	0.998;0.974	D;P	0.71870	0.975;0.772	T	0.82839	-0.0259	10	0.72032	D	0.01	-26.298	16.0699	0.80919	1.0:0.0:0.0:0.0	.	25;25	Q9NVC6;Q9NVC6-2	MED17_HUMAN;.	G	25	ENSP00000251871:D25G;ENSP00000434459:D25G;ENSP00000431524:D25G	ENSP00000251871:D25G	D	+	2	0	MED17	93157401	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	8.563000	0.90723	2.200000	0.70718	0.459000	0.35465	GAT		0.672	MED17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394800.2	NM_004268		G	93517753	A	G	93517753	3	3	692	1	0	0	0	0	1	0	0	0	9437	333	12	3	76	3	MED17	11	93517753	Missense_Mutation	SNP	A	TCGA-KL-8323-01A-21D-2310-10	92247368	93517753	41488763	37	38279											
LIMA1	51474	broad.mit.edu	37	12	50575718	50575718	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr12:50575718A>G	ENST00000341247.4	-	10	1392	c.1243T>C	c.(1243-1245)Ttc>Ctc	p.F415L	LIMA1_ENST00000547825.1_Missense_Mutation_p.F113L|LIMA1_ENST00000552783.1_Missense_Mutation_p.F256L|LIMA1_ENST00000394943.3_Missense_Mutation_p.F416L|LIMA1_ENST00000552491.1_Missense_Mutation_p.F112L|LIMA1_ENST00000552909.1_Missense_Mutation_p.F254L|LIMA1_ENST00000552823.1_Missense_Mutation_p.F255L	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	415	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.			F -> L (in Ref. 8; AAG17267). {ECO:0000305}.	actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						GAGCAACGGAAGCAGCTGATG	0.488																																																0													110	99	103					12																	50575718		2203	4300	6503	SO:0001583	missense	51474			AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405			24636	protein-coding gene	gene with protein product	"epithelial protein lost in neoplasm beta"	608364				10806352, 10618726, 12566430	Standard	NM_016357		Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000341247.4:c.1243T>C	12.37:g.50575718A>G	ENSP00000340184:p.Phe415Leu		B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Missense_Mutation	SNP	ENST00000341247.4	37	CCDS8802.1	.	.	.	.	.	.	.	.	.	.	A	36	5.631391	0.96682	.	.	ENSG00000050405	ENST00000552491;ENST00000547825;ENST00000552823;ENST00000394943;ENST00000341247;ENST00000552783;ENST00000552909;ENST00000420992	D;D;D;D;D;D;D	0.92199	-2.99;-2.99;-2.99;-2.99;-2.99;-2.99;-2.99	5.49	5.49	0.81192	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	D	0.95887	0.8661	M	0.77616	2.38	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.964	D;D;D	0.97110	1.0;0.991;0.978	D	0.96323	0.9238	10	0.72032	D	0.01	.	15.8844	0.79232	1.0:0.0:0.0:0.0	.	425;415;254	Q59FE8;Q9UHB6;F8VQE1	.;LIMA1_HUMAN;.	L	112;113;255;416;415;256;254;334	ENSP00000448463:F112L;ENSP00000448706:F113L;ENSP00000450266:F255L;ENSP00000378400:F416L;ENSP00000340184:F415L;ENSP00000448779:F256L;ENSP00000450087:F254L	ENSP00000340184:F415L	F	-	1	0	LIMA1	48861985	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.910000	0.92685	2.218000	0.71995	0.533000	0.62120	TTC		0.488	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406235.2	NM_016357		G	50575718	A	G	50575718	3	3	692	1	0	0	0	0	1	0	0	0	8798	72	3	3	1044	3	LIMA1	12	50575718	Missense_Mutation	SNP	A	TCGA-KL-8323-01A-21D-2310-10		50575718	83276177	38	38280											
ALKBH2	121642	broad.mit.edu;ucsc.edu	37	12	109526037	109526037	+	Missense_Mutation	SNP	G	G	A	rs373220366		TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr12:109526037G>A	ENST00000429722.2	-	4	1123	c.760C>T	c.(760-762)Cgt>Tgt	p.R254C	ALKBH2_ENST00000343075.3_Missense_Mutation_p.R254C|ALKBH2_ENST00000440112.2_3'UTR	NM_001145374.1	NP_001138846.1	Q6NS38	ALKB2_HUMAN	alkB, alkylation repair homolog 2 (E. coli)	254	Alpha-ketoglutarate binding.|Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|oxidative demethylation (GO:0070989)|oxidative DNA demethylation (GO:0035511)	nucleoplasm (GO:0005654)	cytosine C-5 DNA demethylase activity (GO:0051747)|DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)			endometrium(1)|kidney(3)|large_intestine(1)|lung(3)	8					Vitamin C(DB00126)	AAAATTTTACGAAAAGTCAGA	0.428								Direct reversal of damage																																								0								G	CYS/ARG,CYS/ARG,CYS/ARG,,	0,4406		0,0,2203	72	77	75		760,760,760,,	3.7	0.1	12		75	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,utr-3,utr-3	ALKBH2	NM_001001655.2,NM_001145374.1,NM_001145375.1,NM_001205179.1,NM_001205180.1	180,180,180,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,,	254/262,254/262,254/262,,	109526037	1,13005	2203	4300	6503	SO:0001583	missense	121642			AY754389	CCDS31897.1, CCDS55883.1	12q24.11	2008-04-24			ENSG00000189046	ENSG00000189046		"Alkylation repair homologs"	32487	protein-coding gene	gene with protein product		610602					Standard	NM_001145374		Approved	MGC90512, ABH2	uc010sxj.1	Q6NS38	OTTHUMG00000169246	ENST00000429722.2:c.760C>T	12.37:g.109526037G>A	ENSP00000398181:p.Arg254Cys		A4PET2|Q5XLE3	Missense_Mutation	SNP	ENST00000429722.2	37	CCDS31897.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.774679	0.49786	0.0	1.16E-4	ENSG00000189046	ENST00000429722;ENST00000343075;ENST00000435370	T;T	0.75260	-0.92;-0.92	5.62	3.74	0.42951	Oxoglutarate/iron-dependent oxygenase (2);	0.000000	0.85682	D	0.000000	D	0.91415	0.7291	H	0.98701	4.305	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.93711	0.7024	10	0.87932	D	0	-10.7766	14.1155	0.65151	0.0:0.0:0.6126:0.3874	.	254	Q6NS38	ALKB2_HUMAN	C	254	ENSP00000398181:R254C;ENSP00000343021:R254C	ENSP00000343021:R254C	R	-	1	0	ALKBH2	108010420	1.000000	0.71417	0.126000	0.21872	0.478000	0.33099	3.442000	0.52900	0.670000	0.31165	0.655000	0.94253	CGT		0.428	ALKBH2-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403063.2	NM_001001655		A	109526037	G	A	109526037	3	1	692	1	0	0	0	0	1	0	0	0	527	1058	37	1	29	1	ALKBH2	12	109526037	Missense_Mutation	SNP	G	TCGA-KL-8323-01A-21D-2310-10	58950319	109526037	24325858	39	38281											
HERC2	8924	broad.mit.edu	37	15	28447318	28447318	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr15:28447318A>G	ENST00000261609.7	-	47	7666	c.7558T>C	c.(7558-7560)Tcc>Ccc	p.S2520P		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)		TACTCGTCGGACACCGTGTCT	0.612																																																0													12	12	12					15																	28447318		2183	4260	6443	SO:0001583	missense	8924			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.7558T>C	15.37:g.28447318A>G	ENSP00000261609:p.Ser2520Pro			Missense_Mutation	SNP	ENST00000261609.7	37	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	A	14.58	2.576880	0.45902	.	.	ENSG00000128731	ENST00000261609	T	0.41758	0.99	4.49	4.49	0.54785	.	0.121312	0.56097	D	0.000023	T	0.53546	0.1803	L	0.44542	1.39	0.80722	D	1	D	0.54601	0.967	D	0.65874	0.939	T	0.50617	-0.8807	10	0.37606	T	0.19	.	14.2901	0.66270	1.0:0.0:0.0:0.0	.	2520	O95714	HERC2_HUMAN	P	2520	ENSP00000261609:S2520P	ENSP00000261609:S2520P	S	-	1	0	HERC2	26120913	1.000000	0.71417	0.982000	0.44146	0.091000	0.18340	9.120000	0.94369	2.026000	0.59711	0.374000	0.22700	TCC		0.612	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		G	28447318	A	G	28447318	3	3	692	1	0	0	0	0	1	0	0	0	7060	275	10	3	7134	3	HERC2	15	28447318	Missense_Mutation	SNP	A	TCGA-KL-8323-01A-21D-2310-10		28447318	74084074	40	38282											
MESDC1	59274	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	15	81295653	81295653	+	Silent	SNP	G	G	A	rs527572667		TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr15:81295653G>A	ENST00000267984.2	+	1	2359	c.1041G>A	c.(1039-1041)agG>agA	p.R347R		NM_022566.2	NP_072088.1	Q9H1K6	MESD1_HUMAN	mesoderm development candidate 1	347										endometrium(1)|lung(2)	3						TAAGGGAGAGGTCTTCGCCCA	0.567																																																0													17	23	21					15																	81295653		2136	4266	6402	SO:0001819	synonymous_variant	59274			AY007810	CCDS10316.1	15q13	2008-07-18			ENSG00000140406	ENSG00000140406			13519	protein-coding gene	gene with protein product		615466				11247670	Standard	NM_022566		Approved	MGC99595	uc002bfz.3	Q9H1K6	OTTHUMG00000144185	ENST00000267984.2:c.1041G>A	15.37:g.81295653G>A				Silent	SNP	ENST00000267984.2	37	CCDS10316.1																																																																																				0.567	MESDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291390.1	NM_022566		A	81295653	G	A	81295653	2	1	692	1	0	0	0	0	0	0	0	1	9482	1252	44	2		2	MESDC1	15	81295653	Silent	SNP	G	TCGA-KL-8323-01A-21D-2310-10	52848335	81295653	21235739	41	38283											
NTRK3	4916	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	15	88727494	88727494	+	Silent	SNP	G	G	A	rs536176882		TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr15:88727494G>A	ENST00000360948.2	-	3	446	c.285C>T	c.(283-285)aaC>aaT	p.N95N	NTRK3_ENST00000357724.2_Silent_p.N95N|NTRK3_ENST00000394480.2_Silent_p.N95N|NTRK3_ENST00000540489.2_Silent_p.N95N|NTRK3_ENST00000558676.1_Silent_p.N95N|NTRK3_ENST00000542733.2_De_novo_Start_OutOfFrame|NTRK3_ENST00000557856.1_Silent_p.N95N|NTRK3_ENST00000355254.2_Silent_p.N95N|NTRK3_ENST00000317501.3_Silent_p.N95N	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	95					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)			TGTCCACGGCGTTGAGCGTGT	0.577			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)			G|||	1	0.000199681	0.0	0.0	5008	,	,		14678	0.0		0.0	False		,,,				2504	0.001						Dom	yes		15	15q25	4916	"neurotrophic tyrosine kinase, receptor, type 3"		"E, M"	0													106	78	87					15																	88727494		2201	4299	6500	SO:0001819	synonymous_variant	4916			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.285C>T	15.37:g.88727494G>A			B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Silent	SNP	ENST00000360948.2	37	CCDS32322.1																																																																																				0.577	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				A	88727494	G	A	88727494	2	1	692	1	0	0	0	0	0	0	0	1	10710	1136	40	1		1	NTRK3	15	88727494	Silent	SNP	G	TCGA-KL-8323-01A-21D-2310-10	7431841	88727494	13803898	42	38284											
KATNB1	10300	ucsc.edu	37	16	57788846	57788846	+	Silent	SNP	A	A	G			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr16:57788846A>G	ENST00000379661.3	+	14	1625	c.1233A>G	c.(1231-1233)gcA>gcG	p.A411A		NM_005886.2	NP_005877.2			katanin p80 (WD repeat containing) subunit B 1											cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_neural(199;0.223)				CTCCAGACGCAGCCACAGCAA	0.612																																																0													123	128	126					16																	57788846		2198	4300	6498	SO:0001819	synonymous_variant	10300			AF052432	CCDS10788.1	16q12.2	2013-01-09	2003-03-13		ENSG00000140854	ENSG00000140854		"WD repeat domain containing"	6217	protein-coding gene	gene with protein product		602703	"katanin p80 (WD40-containing) subunit B 1"			9568719	Standard	XM_006721121		Approved		uc002eml.1	Q9BVA0	OTTHUMG00000133467	ENST00000379661.3:c.1233A>G	16.37:g.57788846A>G				Silent	SNP	ENST00000379661.3	37	CCDS10788.1																																																																																				0.612	KATNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257343.3			G	57788846	A	G	57788846	2	3	692	1	0	0	0	0	0	0	0	1	7989	175	7	3		3	KATNB1	16	57788846	Silent	SNP	A	TCGA-KL-8323-01A-21D-2310-10		57788846	32565907	43	38285											
PRMT7	54496	ucsc.edu	37	16	68373380	68373380	+	Silent	SNP	T	T	C			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr16:68373380T>C	ENST00000339507.5	+	8	1490	c.660T>C	c.(658-660)ccT>ccC	p.P220P	PRMT7_ENST00000348497.4_Silent_p.P146P|PRMT7_ENST00000441236.1_Silent_p.P170P|PRMT7_ENST00000564441.1_3'UTR|PRMT7_ENST00000449359.3_Silent_p.P170P			Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	220	SAM-dependent MTase PRMT-type 1. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|histone arginine methylation (GO:0034969)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	[myelin basic protein]-arginine N-methyltransferase activity (GO:0016277)|histone binding (GO:0042393)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		AGAGCTGCCCTGGCGCACCCT	0.592																																																0													113	88	96					16																	68373380		2198	4300	6498	SO:0001819	synonymous_variant	54496			AK001502	CCDS10866.1, CCDS54033.1	16q22.1	2008-02-05			ENSG00000132600	ENSG00000132600		"Protein arginine methyltransferases"	25557	protein-coding gene	gene with protein product		610087				15044439	Standard	NM_001184824		Approved	FLJ10640, KIAA1933	uc002evy.2	Q9NVM4	OTTHUMG00000137556	ENST00000339507.5:c.660T>C	16.37:g.68373380T>C			B3KPR0|B3KUG9|B4E379|Q96PV5|Q9H9L0	Silent	SNP	ENST00000339507.5	37	CCDS10866.1																																																																																				0.592	PRMT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268892.3	NM_019023		C	68373380	T	C	68373380	2	2	692	1	0	0	0	0	0	0	0	1	12546	1567	55	3		3	PRMT7	16	68373380	Silent	SNP	T	TCGA-KL-8323-01A-21D-2310-10	10584534	68373380	21981373	44	38286											
TNFSF13	8741	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	17	7462433	7462433	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr17:7462433C>T	ENST00000338784.4	+	1	520	c.77C>T	c.(76-78)gCa>gTa	p.A26V	TNFSF13_ENST00000483039.1_Intron|TNFSF13_ENST00000349228.4_Missense_Mutation_p.A26V|TNFSF12-TNFSF13_ENST00000293826.4_Intron|TNFSF13_ENST00000380535.4_Missense_Mutation_p.A26V|SENP3_ENST00000321337.7_5'Flank|TNFSF13_ENST00000396545.4_Missense_Mutation_p.A26V|TNFSF12_ENST00000557233.1_Intron|TNFSF13_ENST00000396542.1_Missense_Mutation_p.A9V	NM_003808.3	NP_003799.1	O75888	TNF13_HUMAN	tumor necrosis factor (ligand) superfamily, member 13	26					gene expression (GO:0010467)|immunoglobulin production in mucosal tissue (GO:0002426)|mRNA metabolic process (GO:0016071)|positive regulation of cell proliferation (GO:0008284)|positive regulation of germinal center formation (GO:0002636)|positive regulation of isotype switching to IgA isotypes (GO:0048298)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	receptor binding (GO:0005102)			large_intestine(2)|lung(2)|skin(1)	5		Prostate(122;0.157)				AGAGAGCCGGCACTCTCAGTT	0.632																																																0													25	29	28					17																	7462433		2195	4289	6484	SO:0001583	missense	8741			AF046888	CCDS11111.1, CCDS11112.1, CCDS42256.1, CCDS56019.1, CCDS73957.1	17p13.1	2007-07-23			ENSG00000161955	ENSG00000161955		"Tumor necrosis factor (ligand) superfamily", "CD molecules"	11928	protein-coding gene	gene with protein product		604472				9743536	Standard	NM_172088		Approved	APRIL, CD256		O75888	OTTHUMG00000108145	ENST00000338784.4:c.77C>T	17.37:g.7462433C>T	ENSP00000343505:p.Ala26Val		A8MYD5|B4DVT2|Q541E1|Q5U0G8|Q96HV6|Q9P1M8|Q9P1M9	Missense_Mutation	SNP	ENST00000338784.4	37	CCDS11111.1	.	.	.	.	.	.	.	.	.	.	C	19.07	3.756550	0.69648	.	.	ENSG00000161955	ENST00000396542;ENST00000438470;ENST00000436057;ENST00000349228;ENST00000338784;ENST00000380535;ENST00000396545	D;T;T;D;D;D;D	0.98914	-5.18;0.9;0.9;-4.48;-4.29;-5.23;-4.3	5.17	4.18	0.49190	.	.	.	.	.	D	0.98738	0.9576	M	0.66939	2.045	0.33660	D	0.609558	D;D;D;D;D	0.71674	0.997;0.997;0.996;0.997;0.998	D;D;D;D;D	0.80764	0.985;0.985;0.99;0.985;0.994	D	0.99954	1.1603	9	0.72032	D	0.01	.	11.951	0.52954	0.0:0.8246:0.1754:0.0	.	26;26;26;26;26	B4DVT2;Q2QBA2;O75888-2;O75888;O75888-3	.;.;.;TNF13_HUMAN;.	V	9;9;9;26;26;26;26	ENSP00000379792:A9V;ENSP00000390771:A9V;ENSP00000410094:A9V;ENSP00000314455:A26V;ENSP00000343505:A26V;ENSP00000369908:A26V;ENSP00000379794:A26V	ENSP00000343505:A26V	A	+	2	0	TNFSF13	7403157	0.961000	0.32948	1.000000	0.80357	0.960000	0.62799	3.662000	0.54510	1.272000	0.44329	0.655000	0.94253	GCA		0.632	TNFSF13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226948.2	NM_003808		T	7462433	C	T	7462433	3	4	692	1	0	0	0	0	1	0	0	0	16310	710	25	2	79	2	TNFSF13	17	7462433	Missense_Mutation	SNP	C	TCGA-KL-8323-01A-21D-2310-10		7462433	73732777	45	38287											
MAPK7	5598	broad.mit.edu;mdanderson.org	37	17	19284374	19284374	+	Silent	SNP	C	C	T	rs145605078		TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr17:19284374C>T	ENST00000308406.5	+	4	1238	c.852C>T	c.(850-852)gcC>gcT	p.A284A	MAPK7_ENST00000395602.4_Silent_p.A284A|B9D1_ENST00000477478.2_5'Flank|MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000299612.7_Silent_p.A145A|MFAP4_ENST00000574313.2_5'Flank|B9D1_ENST00000575403.1_5'Flank|MAPK7_ENST00000395604.3_Silent_p.A284A	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	284	Necessary for oligomerization. {ECO:0000250}.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)					CATCACCAGCCGTGATTCAGG	0.607																																																0								C	,,,	1,4405	2.1+/-5.4	0,1,2202	36	39	38		852,435,852,852	-5.6	0.4	17	dbSNP_134	38	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MAPK7	NM_002749.3,NM_139032.2,NM_139033.2,NM_139034.2	,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,	284/817,145/678,284/817,284/817	19284374	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5598			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.852C>T	17.37:g.19284374C>T			Q16634|Q59F50|Q6QLU7|Q7L4P4|Q969G1|Q96G51	Silent	SNP	ENST00000308406.5	37	CCDS11206.1																																																																																				0.607	MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132506.1	NM_139033		T	19284374	C	T	19284374	2	4	692	1	0	0	0	0	0	0	0	1	9284	639	23	1		1	MAPK7	17	19284374	Silent	SNP	C	TCGA-KL-8323-01A-21D-2310-10	11821941	19284374	61910836	46	38288											
SPAG5	10615	broad.mit.edu	37	17	26910630	26910630	+	Missense_Mutation	SNP	G	G	T			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr17:26910630G>T	ENST00000321765.5	-	15	2916	c.2584C>A	c.(2584-2586)Caa>Aaa	p.Q862K		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	862					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)				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)					TCCAGATCTTGCTCCTGGTTA	0.463																																																0													166	145	152					17																	26910630		2203	4300	6503	SO:0001583	missense	10615			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.2584C>A	17.37:g.26910630G>T	ENSP00000323300:p.Gln862Lys		O95213|Q9BWE8|Q9NT17|Q9UFE6	Missense_Mutation	SNP	ENST00000321765.5	37	CCDS32594.1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.933531	0.34096	.	.	ENSG00000076382;ENSG00000258472	ENST00000321765;ENST00000531839	T;T	0.32515	1.45;1.45	5.17	3.07	0.35406	.	0.687189	0.13323	N	0.396492	T	0.24774	0.0601	L	0.32530	0.975	0.21290	N	0.999732	B;B	0.11235	0.004;0.0	B;B	0.08055	0.003;0.001	T	0.22977	-1.0201	10	0.87932	D	0	0.2695	11.0107	0.47661	0.0:0.0:0.627:0.373	.	267;862	E9PMD0;Q96R06	.;SPAG5_HUMAN	K	862;267	ENSP00000323300:Q862K;ENSP00000431165:Q267K	ENSP00000431165:Q267K	Q	-	1	0	SPAG5;RP11-192H23.4	23934757	0.966000	0.33281	0.403000	0.26384	0.941000	0.58515	1.752000	0.38349	0.740000	0.32651	0.650000	0.86243	CAA		0.463	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390564.2	NM_006461		T	26910630	G	T	26910630	3	4	692	1	0	0	0	0	1	0	0	0	14987	1328	46	4	1037	4	SPAG5	17	26910630	Missense_Mutation	SNP	G	TCGA-KL-8323-01A-21D-2310-10	7626256	26910630	54284580	47	38289											
SOCS7	30837	broad.mit.edu	37	17	36520640	36520640	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr17:36520640A>G	ENST00000577233.1	+	3	859	c.859A>G	c.(859-861)Act>Gct	p.T287A	SOCS7_ENST00000331159.5_Missense_Mutation_p.T287A	NM_014598.2	NP_055413.1	O14512	SOCS7_HUMAN	suppressor of cytokine signaling 7	287	Mediates interaction with SORBS3.				fat cell differentiation (GO:0045444)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|negative regulation of signal transduction (GO:0009968)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			central_nervous_system(1)|endometrium(1)|kidney(1)|prostate(1)|skin(5)	9	Breast(7;3.47e-17)					CTCAGGTGAAACTGTGTCGCT	0.572																																																0													145	123	130					17																	36520640		2203	4300	6503	SO:0001583	missense	30837			AB005216	CCDS32637.1	17q12	2014-08-12			ENSG00000274211	ENSG00000274211		"Suppressors of cytokine signaling", "SH2 domain containing"	29846	protein-coding gene	gene with protein product	"Nck, Ash and phospholipase C binding protein", "NCK-associated protein 4"	608788				9344857, 12076535	Standard	XM_005257264		Approved	NAP4, NCKAP4	uc002hqa.3	O14512	OTTHUMG00000188546	ENST00000577233.1:c.859A>G	17.37:g.36520640A>G	ENSP00000464034:p.Thr287Ala		A2VCU2|Q0IJ63	Missense_Mutation	SNP	ENST00000577233.1	37	CCDS32637.1	.	.	.	.	.	.	.	.	.	.	A	11.29	1.594183	0.28445	.	.	ENSG00000174111	ENST00000331159	T	0.66815	-0.23	6.06	4.96	0.65561	.	1.199420	0.05838	N	0.618771	T	0.67748	0.2926	L	0.58101	1.795	0.51233	D	0.999913	P;P	0.41393	0.748;0.748	B;B	0.38842	0.283;0.283	T	0.55617	-0.8113	10	0.54805	T	0.06	-6.8465	13.1442	0.59452	0.8664:0.1336:0.0:0.0	.	37;287	B5MDS8;O14512	.;SOCS7_HUMAN	A	287	ENSP00000330659:T287A	ENSP00000330659:T287A	T	+	1	0	SOCS7	33774166	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.858000	0.92256	1.077000	0.40990	0.533000	0.62120	ACT		0.572	SOCS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440486.4	XM_371052		G	36520640	A	G	36520640	3	3	692	1	0	0	0	0	1	0	0	0	14925	43	2	3	869	3	SOCS7	17	36520640	Missense_Mutation	SNP	A	TCGA-KL-8323-01A-21D-2310-10	9610010	36520640	44674570	48	38290											
KRT20	54474	broad.mit.edu;mdanderson.org;bcgsc.ca	37	17	39041356	39041356	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	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																																																0													36	36	36					17																	39041356		2203	4300	6503	SO:0001583	missense	54474			BC031559	CCDS11379.1	17q21.2	2013-01-16			ENSG00000171431	ENSG00000171431		"-", "Intermediate filaments type I, keratins (acidic)"	20412	protein-coding gene	gene with protein product		608218				8359595, 12515621, 16831889	Standard	NM_019010		Approved	CK20, K20, MGC35423	uc002hvl.3	P35900	OTTHUMG00000133366	ENST00000167588.3:c.82C>T	17.37:g.39041356G>A	ENSP00000167588:p.Arg28Cys		B2R6W7	Missense_Mutation	SNP	ENST00000167588.3	37	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			A	39041356	G	A	39041356	3	1	692	1	0	0	0	0	1	0	0	0	8460	1087	38	1	1224	1	KRT20	17	39041356	Missense_Mutation	SNP	G	TCGA-KL-8323-01A-21D-2310-10	2520716	39041356	42153854	49	38291											
ITGA3	3675	bcgsc.ca	37	17	48165656	48165656	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr17:48165656A>G	ENST00000320031.8	+	25	3443	c.3113A>G	c.(3112-3114)aAg>aGg	p.K1038R	ITGA3_ENST00000007722.7_Intron	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)	1038					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						GCGGAGATGAAGAGCCAGCCG	0.682																																																0													14	16	15					17																	48165656		2183	4271	6454	SO:0001583	missense	3675			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.3113A>G	17.37:g.48165656A>G	ENSP00000315190:p.Lys1038Arg		A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Missense_Mutation	SNP	ENST00000320031.8	37	CCDS11558.1	.	.	.	.	.	.	.	.	.	.	A	7.011	0.556719	0.13436	.	.	ENSG00000005884	ENST00000538917;ENST00000320031	T	0.23348	1.91	5.1	1.61	0.23674	.	.	.	.	.	T	0.06462	0.0166	N	0.01352	-0.895	0.80722	D	1	B	0.18461	0.028	B	0.13407	0.009	T	0.36480	-0.9746	9	0.02654	T	1	.	7.2659	0.26229	0.7307:0.0:0.2693:0.0	.	1038	P26006	ITA3_HUMAN	R	1024;1038	ENSP00000315190:K1038R	ENSP00000315190:K1038R	K	+	2	0	ITGA3	45520655	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.238000	0.51352	0.264000	0.21851	0.379000	0.24179	AAG		0.682	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000366298.1	NM_005501		G	48165656	A	G	48165656	3	3	692	1	0	0	0	0	1	0	0	0	7879	72	3	3	3211	3	ITGA3	17	48165656	Missense_Mutation	SNP	A	TCGA-KL-8323-01A-21D-2310-10	9124300	48165656	33029554	50	38292											
SMURF2	64750	bcgsc.ca	37	17	62579654	62579654	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr17:62579654T>C	ENST00000262435.9	-	7	681	c.494A>G	c.(493-495)gAa>gGa	p.E165G	SMURF2_ENST00000578200.1_Intron	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	165	WW 1. {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)			GGTTCTCCTTTCTTCCCAGCT	0.398																																																0													113	98	103					17																	62579654		2203	4300	6503	SO:0001583	missense	64750			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.494A>G	17.37:g.62579654T>C	ENSP00000262435:p.Glu165Gly		Q52LL1|Q9H260	Missense_Mutation	SNP	ENST00000262435.9	37	CCDS32707.1	.	.	.	.	.	.	.	.	.	.	T	14.60	2.585245	0.46110	.	.	ENSG00000108854	ENST00000262435	D	0.85171	-1.95	5.06	5.06	0.68205	WW/Rsp5/WWP (5);	0.093513	0.64402	D	0.000001	D	0.88941	0.6574	M	0.93720	3.45	0.80722	D	1	B	0.22983	0.078	B	0.22880	0.042	D	0.87742	0.2586	10	0.44086	T	0.13	.	15.1061	0.72322	0.0:0.0:0.0:1.0	.	165	Q9HAU4	SMUF2_HUMAN	G	165	ENSP00000262435:E165G	ENSP00000262435:E165G	E	-	2	0	SMURF2	60010116	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.359000	0.79477	2.024000	0.59613	0.477000	0.44152	GAA		0.398	SMURF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445227.1	NM_022739		C	62579654	T	C	62579654	3	2	692	1	0	0	0	0	1	0	0	0	14826	1783	62	3	1804	3	SMURF2	17	62579654	Missense_Mutation	SNP	T	TCGA-KL-8323-01A-21D-2310-10	14413998	62579654	18615556	51	38293											
GAA	2548	broad.mit.edu	37	17	78082576	78082576	+	Silent	SNP	G	G	A			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr17:78082576G>A	ENST00000302262.3	+	8	1494	c.1275G>A	c.(1273-1275)ccG>ccA	p.P425P	GAA_ENST00000390015.3_Silent_p.P425P	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	425					cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	GGGACTTCCCGGCCATGGTGC	0.647																																																0													25	21	23					17																	78082576		2198	4298	6496	SO:0001819	synonymous_variant	2548				CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"Pompe disease", "glycogen storage disease type II"	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.1275G>A	17.37:g.78082576G>A			Q09GN4|Q14351|Q16302|Q8IWE7	Silent	SNP	ENST00000302262.3	37	CCDS32760.1																																																																																				0.647	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437441.1			A	78082576	G	A	78082576	2	1	692	1	0	0	0	0	0	0	0	1	6149	1103	39	1		1	GAA	17	78082576	Silent	SNP	G	TCGA-KL-8323-01A-21D-2310-10	15502922	78082576	3112634	52	38294											
LMAN1	3998	broad.mit.edu	37	18	57022610	57022610	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr18:57022610A>G	ENST00000251047.5	-	3	1129	c.412T>C	c.(412-414)Ttt>Ctt	p.F138L		NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1	138	L-type lectin-like. {ECO:0000255|PROSITE- ProRule:PRU00658}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|sarcomere (GO:0030017)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	GCTGATCCAAACACAGGGCCC	0.368																																																0													86	78	80					18																	57022610		2203	4300	6503	SO:0001583	missense	3998			X71661	CCDS11974.1	18q21.3-q22	2014-09-17	2002-08-30		ENSG00000074695	ENSG00000074695			6631	protein-coding gene	gene with protein product	"endoplasmic reticulum-golgi intermediate compartment protein 53"	601567	"coagulation factor V-factor VIII combined deficiency"	F5F8D		9546392, 8854877	Standard	NM_005570		Approved	MR60, ERGIC-53, ERGIC53, gp58, MCFD1, FMFD1	uc002lhz.3	P49257	OTTHUMG00000132758	ENST00000251047.5:c.412T>C	18.37:g.57022610A>G	ENSP00000251047:p.Phe138Leu		Q12895|Q8N5I7|Q9UQG1|Q9UQG2|Q9UQG3|Q9UQG4|Q9UQG5|Q9UQG6|Q9UQG7|Q9UQG8|Q9UQG9|Q9UQH0|Q9UQH1|Q9UQH2	Missense_Mutation	SNP	ENST00000251047.5	37	CCDS11974.1	.	.	.	.	.	.	.	.	.	.	A	28.4	4.918353	0.92249	.	.	ENSG00000074695	ENST00000251047	T	0.75589	-0.95	5.52	5.52	0.82312	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.060560	0.64402	D	0.000001	D	0.85331	0.5672	M	0.78344	2.41	0.58432	D	0.999999	P;B	0.36753	0.568;0.197	P;B	0.55871	0.786;0.413	D	0.85384	0.1121	10	0.49607	T	0.09	-15.3839	15.338	0.74273	1.0:0.0:0.0:0.0	.	138;138	B4DVV0;P49257	.;LMAN1_HUMAN	L	138	ENSP00000251047:F138L	ENSP00000251047:F138L	F	-	1	0	LMAN1	55173590	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.691000	0.91279	2.099000	0.63709	0.533000	0.62120	TTT		0.368	LMAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256129.2	NM_005570		G	57022610	A	G	57022610	3	3	692	1	0	0	0	0	1	0	0	0	8838	43	2	3	1164	3	LMAN1	18	57022610	Missense_Mutation	SNP	A	TCGA-KL-8323-01A-21D-2310-10		57022610	21054638	53	38295											
HMHA1	23526	broad.mit.edu;mdanderson.org	37	19	1084344	1084344	+	Splice_Site	SNP	A	A	G			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr19:1084344A>G	ENST00000313093.2	+	22	3294	c.3063A>G	c.(3061-3063)agA>agG	p.R1021R	HMHA1_ENST00000590577.1_Splice_Site_p.R656R|HMHA1_ENST00000543365.1_Splice_Site_p.R904R|HMHA1_ENST00000536472.1_Splice_Site_p.R889R|HMHA1_ENST00000539243.2_Splice_Site_p.R1037R|HMHA1_ENST00000591169.1_3'UTR|HMHA1_ENST00000586866.1_Splice_Site_p.R1025R|HMHA1_ENST00000590214.1_Splice_Site_p.R1048R	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	1021					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)		ACGGGTGCAGAGGTGAGTGTG	0.682																																																0													36	39	38					19																	1084344		2200	4299	6499	SO:0001630	splice_region_variant	23526			D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"Rho GTPase activating proteins"	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.3064+1A>G	19.37:g.1084344A>G			B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Silent	SNP	ENST00000313093.2	37	CCDS32863.1																																																																																				0.682	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1		Silent	G	1084344	A	G	1084344	5	3	692	1	0	0	0	0	0	0	1	0	7242	318	11	3	3149	3	HMHA1	19	1084344	Splice_Site	SNP	A	TCGA-KL-8323-01A-21D-2310-10		1084344	58044639	54	38296											
CACNA1A	773	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	19	13476272	13476272	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr19:13476272C>T	ENST00000360228.5	-	5	642	c.643G>A	c.(643-645)Gtc>Atc	p.V215I	CACNA1A_ENST00000573710.2_Missense_Mutation_p.V215I	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	215					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	GACTTCAGGACGACTTGTAAA	0.502																																																0													47	47	47					19																	13476272		1920	4135	6055	SO:0001583	missense	773			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.643G>A	19.37:g.13476272C>T	ENSP00000353362:p.Val215Ile		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.636162	0.67130	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.98381	-4.9	5.55	4.52	0.55395	Ion transport (1);	0.000000	0.64402	D	0.000001	D	0.97303	0.9118	L	0.57536	1.79	0.46356	D	0.999	P;D	0.58268	0.951;0.982	B;P	0.47941	0.32;0.562	D	0.96952	0.9695	10	0.72032	D	0.01	.	13.3098	0.60374	0.0:0.9229:0.0:0.0771	.	215;215	O00555;Q9NS88	CAC1A_HUMAN;.	I	215	ENSP00000353362:V215I	ENSP00000317661:V215I	V	-	1	0	CACNA1A	13337272	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.585000	0.82584	1.347000	0.45714	-0.136000	0.14681	GTC		0.502	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		T	13476272	C	T	13476272	3	4	692	1	0	0	0	0	1	0	0	0	2540	536	19	1	7163	1	CACNA1A	19	13476272	Missense_Mutation	SNP	C	TCGA-KL-8323-01A-21D-2310-10	12391928	13476272	45652711	55	38297											
ZNF257	113835	broad.mit.edu	37	19	22256335	22256335	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr19:22256335G>A	ENST00000594947.1	+	3	339	c.195G>A	c.(193-195)atG>atA	p.M65I	ZNF257_ENST00000600162.1_Missense_Mutation_p.M65I	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	65	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)			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				CCTGTAATATGAAGAGACATG	0.448																																																0													139	151	147					19																	22256335		2203	4300	6503	SO:0001583	missense	113835			AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"Zinc fingers, C2H2-type", "-"	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.195G>A	19.37:g.22256335G>A	ENSP00000470209:p.Met65Ile		B3KPS4|E9PG34|Q8NE34	Missense_Mutation	SNP	ENST00000594947.1	37	CCDS46030.1	.	.	.	.	.	.	.	.	.	.	G	0.570	-0.841484	0.02692	.	.	ENSG00000197134	ENST00000435820;ENST00000397123	.	.	.	0.195	-0.39	0.12450	Krueppel-associated box (1);	.	.	.	.	T	0.14184	0.0343	N	0.04387	-0.21	0.09310	N	1	B	0.16396	0.017	B	0.13407	0.009	T	0.19224	-1.0312	7	0.35671	T	0.21	.	.	.	.	.	65	Q9Y2Q1	ZN257_HUMAN	I	65	.	ENSP00000380312:M65I	M	+	3	0	ZNF257	22048175	0.005000	0.15991	0.022000	0.16811	0.022000	0.10575	0.268000	0.18571	-0.697000	0.05092	-0.683000	0.03753	ATG		0.448	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464382.1			A	22256335	G	A	22256335	3	1	692	1	0	0	0	0	1	0	0	0	17805	1290	45	2	205	2	ZNF257	19	22256335	Missense_Mutation	SNP	G	TCGA-KL-8323-01A-21D-2310-10	8780063	22256335	36872648	56	38298											
FFAR1	2864	broad.mit.edu	37	19	35842701	35842701	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr19:35842701G>A	ENST00000246553.2	+	1	257	c.247G>A	c.(247-249)Gcg>Acg	p.A83T		NM_005303.2	NP_005294.1	O14842	FFAR1_HUMAN	free fatty acid receptor 1	83					energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|positive regulation of GTPase activity (GO:0043547)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;4.58e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.67e-19)|all cancers(14;2.01e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		Icosapent(DB00159)	CCCCGTCTTCGCGGTGGCCCA	0.701																																																0													13	13	13					19																	35842701		2192	4282	6474	SO:0001583	missense	2864			AF024687	CCDS12458.1	19q13.1	2012-08-08	2006-02-15	2006-02-15	ENSG00000126266	ENSG00000126266		"GPCR / Class A : Fatty acid receptors"	4498	protein-coding gene	gene with protein product		603820	"G protein-coupled receptor 40"	GPR40		15684720	Standard	NM_005303		Approved	FFA1R	uc002nzc.2	O14842		ENST00000246553.2:c.247G>A	19.37:g.35842701G>A	ENSP00000246553:p.Ala83Thr		Q0VAS2|Q4VBL4	Missense_Mutation	SNP	ENST00000246553.2	37	CCDS12458.1	.	.	.	.	.	.	.	.	.	.	G	9.563	1.119086	0.20877	.	.	ENSG00000126266	ENST00000246553	T	0.37411	1.2	4.6	4.6	0.57074	GPCR, rhodopsin-like superfamily (1);	0.409722	0.23997	U	0.042504	T	0.15435	0.0372	N	0.12569	0.235	0.09310	N	1	P	0.48162	0.906	B	0.37650	0.255	T	0.10753	-1.0616	10	0.09338	T	0.73	-4.6107	8.5191	0.33264	0.1038:0.0:0.8962:0.0	.	83	O14842	FFAR1_HUMAN	T	83	ENSP00000246553:A83T	ENSP00000246553:A83T	A	+	1	0	FFAR1	40534541	0.005000	0.15991	0.012000	0.15200	0.003000	0.03518	1.884000	0.39668	2.375000	0.81037	0.555000	0.69702	GCG		0.701	FFAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466112.2	NM_005303		A	35842701	G	A	35842701	3	1	692	1	0	0	0	0	1	0	0	0	5829	1087	38	1	249	1	FFAR1	19	35842701	Missense_Mutation	SNP	G	TCGA-KL-8323-01A-21D-2310-10	13586366	35842701	23286282	57	38299											
WDR62	284403	broad.mit.edu;hgsc.bcm.edu	37	19	36558850	36558851	+	Frame_Shift_Ins	INS	-	-	AC			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr19:36558850_36558851insAC	ENST00000270301.7	+	7	820_821	c.820_821insAC	c.(820-822)tacfs	p.Y274fs	WDR62_ENST00000401500.2_Frame_Shift_Ins_p.Y274fs|WDR62_ENST00000388999.3_Frame_Shift_Ins_p.Y274fs|WDR62_ENST00000378860.4_3'UTR			O43379	WDR62_HUMAN	WD repeat domain 62	274					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CTGTGTGTCCTACTCGGGCCTC	0.599																																																0																																										SO:0001589	frameshift_variant	284403			BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"WD repeat domain containing"	24502	protein-coding gene	gene with protein product		613583	"chromosome 19 open reading frame 14", "microcephaly, primary autosomal recessive 2"	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.821_822dupAC	19.37:g.36558851_36558852dupAC	ENSP00000270301:p.Tyr274fs		Q63HP9|Q659D7|Q8NBF7|Q96AD9	Frame_Shift_Ins	INS	ENST00000270301.7	37	CCDS33001.1																																																																																				0.599	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	NM_015671		AC	36558851	-	AC	36558850	7	5	692	1	0	1	1	0	0	0	0	0	17318	1522	53	0	846	0	WDR62	19	36558850	Frame_Shift_Ins	INS	-	TCGA-KL-8323-01A-21D-2310-10	716149	36558850	22570133	58	38300	293	2									
WDR62	284403	bcgsc.ca	37	19	36558851	36558852	+	Frame_Shift_Ins	INS	-	-	AC			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr19:36558851_36558852insAC	ENST00000270301.7	+	7	821_822	c.821_822insAC	c.(820-825)tactcgfs	p.YS274fs	WDR62_ENST00000401500.2_Frame_Shift_Ins_p.YS274fs|WDR62_ENST00000388999.3_Frame_Shift_Ins_p.YS274fs|WDR62_ENST00000378860.4_3'UTR			O43379	WDR62_HUMAN	WD repeat domain 62	274					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TGTGTGTCCTACTCGGGCCTCC	0.599																																																0																																										SO:0001589	frameshift_variant	284403			BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"WD repeat domain containing"	24502	protein-coding gene	gene with protein product		613583	"chromosome 19 open reading frame 14", "microcephaly, primary autosomal recessive 2"	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	Exception_encountered	19.37:g.36558851_36558852insAC	ENSP00000270301:p.Tyr274fs		Q63HP9|Q659D7|Q8NBF7|Q96AD9	Nonsense_Mutation	INS	ENST00000270301.7	37	CCDS33001.1																																																																																				0.599	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	NM_015671		AC	36558852	-	AC	36558851	7	5	692	1	0	1	1	0	0	0	0	0	17318	391	14	0	847	0	WDR62	19	36558851	Frame_Shift_Ins	INS	-	TCGA-KL-8323-01A-21D-2310-10	1	36558851	22570132	59	38301	293	2									
HM13	81502	bcgsc.ca	37	20	30149459	30149459	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr20:30149459T>C	ENST00000340852.5	+	10	992	c.868T>C	c.(868-870)Tac>Cac	p.Y290H	HM13-IT1_ENST00000421894.1_RNA|HM13_ENST00000492709.1_3'UTR|HM13_ENST00000335574.5_Missense_Mutation_p.Y290H|HM13_ENST00000376127.3_Missense_Mutation_p.Y248H|HM13_ENST00000398174.3_Missense_Mutation_p.Y290H	NM_030789.2	NP_110416.1	Q8TCT9	HM13_HUMAN	histocompatibility (minor) 13	290					membrane protein proteolysis (GO:0033619)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			TACCCACACCTACTTCTACAC	0.502																																																0													240	168	192					20																	30149459		2203	4300	6503	SO:0001583	missense	81502			AL110115	CCDS13182.1, CCDS13183.1, CCDS42861.1	20q11.21	2012-02-21			ENSG00000101294	ENSG00000101294			16435	protein-coding gene	gene with protein product	"signal peptide peptidase beta", "presenilin-like protein 3", "intramembrane protease", "signal peptide peptidase like 1"	607106				12077416, 14704149	Standard	NM_030789		Approved	H13, dJ324O17.1, SPP, PSL3, IMP1, IMPAS, PSENL3, SPPL1	uc002wwc.3	Q8TCT9	OTTHUMG00000032175	ENST00000340852.5:c.868T>C	20.37:g.30149459T>C	ENSP00000343032:p.Tyr290His		B2RAY5|E1P5L3|Q15K36|Q540H8|Q5JWP2|Q5JWP3|Q5JWP4|Q5JWP5|Q7Z4F2|Q86Y35|Q95H87|Q9H110|Q9H111	Missense_Mutation	SNP	ENST00000340852.5	37	CCDS13182.1	.	.	.	.	.	.	.	.	.	.	T	28.5	4.926434	0.92319	.	.	ENSG00000101294	ENST00000335574;ENST00000340852;ENST00000398174;ENST00000376127;ENST00000344042	T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.81158	0.4764	H	0.98314	4.2	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;1.0;0.988	D	0.88395	0.3011	10	0.72032	D	0.01	-23.9758	15.4114	0.74923	0.0:0.0:0.0:1.0	.	290;290;290	Q8TCT9;Q8TCT9-4;Q8TCT9-2	HM13_HUMAN;.;.	H	290;290;290;248;248	ENSP00000335294:Y290H;ENSP00000343032:Y290H;ENSP00000381237:Y290H;ENSP00000365296:Y248H;ENSP00000341347:Y248H	ENSP00000335294:Y290H	Y	+	1	0	HM13	29613120	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.387000	0.79785	2.228000	0.72767	0.533000	0.62120	TAC		0.502	HM13-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078527.2	NM_178580		C	30149459	T	C	30149459	3	2	692	1	0	0	0	0	1	0	0	0	7219	1522	53	3	973	3	HM13	20	30149459	Missense_Mutation	SNP	T	TCGA-KL-8323-01A-21D-2310-10		30149459	32876061	60	38302											
PATZ1	23598	broad.mit.edu	37	22	31741114	31741114	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr22:31741114A>G	ENST00000266269.5	-	1	1104	c.475T>C	c.(475-477)Tcc>Ccc	p.S159P	AC005003.1_ENST00000504184.2_5'Flank|PATZ1_ENST00000215919.3_Missense_Mutation_p.S159P|PATZ1_ENST00000405309.3_Missense_Mutation_p.S159P|PATZ1_ENST00000351933.4_Missense_Mutation_p.S159P	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	159					male gonad development (GO:0008584)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						TGTACGTTGGACTGTTTGATG	0.577																																																0													142	150	147					22																	31741114		2203	4300	6503	SO:0001583	missense	23598			AL096880	CCDS13894.1, CCDS13895.1, CCDS13896.1, CCDS46691.1	22q12.2	2013-01-09	2006-09-19	2006-09-19	ENSG00000100105	ENSG00000100105		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	13071	protein-coding gene	gene with protein product		605165	"zinc finger protein 278"	ZNF278		10591208, 18241078, 18401526	Standard	NM_014323		Approved	MAZR, dJ400N23, ZBTB19, ZSG, RIAZ, PATZ	uc003akq.3	Q9HBE1	OTTHUMG00000151254	ENST00000266269.5:c.475T>C	22.37:g.31741114A>G	ENSP00000266269:p.Ser159Pro		Q9HBE2|Q9HBE3|Q9P1A9|Q9UDU0|Q9Y529	Missense_Mutation	SNP	ENST00000266269.5	37	CCDS13894.1	.	.	.	.	.	.	.	.	.	.	A	18.72	3.683389	0.68157	.	.	ENSG00000100105	ENST00000266269;ENST00000405309;ENST00000351933;ENST00000215919	T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45	4.1	4.1	0.47936	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (1);	0.117336	0.64402	D	0.000013	T	0.78130	0.4235	M	0.62723	1.935	0.58432	D	0.999998	D;D;D;D	0.76494	0.994;0.994;0.999;0.994	P;P;D;P	0.83275	0.81;0.81;0.996;0.81	T	0.80190	-0.1485	10	0.66056	D	0.02	-16.0422	12.5937	0.56456	1.0:0.0:0.0:0.0	.	159;159;159;159	Q9HBE1-4;Q9HBE1-3;Q9HBE1;Q9HBE1-2	.;.;PATZ1_HUMAN;.	P	159	ENSP00000266269:S159P;ENSP00000384173:S159P;ENSP00000337520:S159P;ENSP00000215919:S159P	ENSP00000215919:S159P	S	-	1	0	PATZ1	30071114	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.863000	0.69568	1.635000	0.50512	0.459000	0.35465	TCC		0.577	PATZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321932.1	NM_032052		G	31741114	A	G	31741114	3	3	692	1	0	0	0	0	1	0	0	0	11478	275	10	3	1891	3	PATZ1	22	31741114	Missense_Mutation	SNP	A	TCGA-KL-8323-01A-21D-2310-10		31741114	19563452	61	38303											
SFI1	9814	broad.mit.edu;ucsc.edu	37	22	32000342	32000342	+	Silent	SNP	C	C	T			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr22:32000342C>T	ENST00000400288.2	+	19	2034	c.1929C>T	c.(1927-1929)gaC>gaT	p.D643D	SFI1_ENST00000400289.1_Silent_p.D561D|SFI1_ENST00000443011.1_Silent_p.D490D|SFI1_ENST00000414585.1_Silent_p.D490D|SFI1_ENST00000540643.1_Silent_p.D588D|SFI1_ENST00000443326.1_Silent_p.D561D|SFI1_ENST00000432498.1_Silent_p.D612D	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	643	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						TGCGAGCAGACCTGCACCACC	0.647											OREG0003526	type=REGULATORY REGION|Gene=SFI1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																				0													13	18	16					22																	32000342		2085	4216	6301	SO:0001819	synonymous_variant	9814			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.1929C>T	22.37:g.32000342C>T		829	A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Silent	SNP	ENST00000400288.2	37	CCDS43004.1																																																																																				0.647	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337180.3	NM_014775		T	32000342	C	T	32000342	2	4	692	1	0	0	0	0	0	0	0	1	14162	506	18	2		2	SFI1	22	32000342	Silent	SNP	C	TCGA-KL-8323-01A-21D-2310-10	259228	32000342	19304224	62	38304											
CXorf59	286464	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	X	36117961	36117961	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chrX:36117961C>T	ENST00000313548.4	+	7	1003	c.817C>T	c.(817-819)Cgg>Tgg	p.R273W		NM_173695.2	NP_775966.1	Q8N9S7	CHDC2_HUMAN	calponin homology domain containing 2	273						integral component of membrane (GO:0016021)											CTGGAGTAAACGGGCATGGAC	0.333																																																0													101	111	108					X																	36117961		2202	4299	6501	SO:0001583	missense	286464			AK093920	CCDS14238.1	Xp21.1	2014-08-07	2012-11-28	2012-11-28	ENSG00000176034	ENSG00000176034			26708	protein-coding gene	gene with protein product			"chromosome X open reading frame 59"	CXorf59			Standard	NM_173695		Approved	FLJ36601, RP13-11B7.1	uc004ddk.1	Q8N9S7	OTTHUMG00000021351	ENST00000313548.4:c.817C>T	X.37:g.36117961C>T	ENSP00000324767:p.Arg273Trp			Missense_Mutation	SNP	ENST00000313548.4	37	CCDS14238.1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.532042	0.45073	.	.	ENSG00000176034	ENST00000378660;ENST00000313548	.	.	.	5.73	1.91	0.25777	.	0.000000	0.52532	D	0.000062	T	0.24661	0.0598	L	0.59436	1.845	0.23862	N	0.996633	P	0.47962	0.903	B	0.34722	0.188	T	0.33574	-0.9863	9	0.87932	D	0	-5.3905	3.2514	0.06815	0.1409:0.5656:0.1339:0.1596	.	273	Q8N9S7	CX059_HUMAN	W	273	.	ENSP00000324767:R273W	R	+	1	2	CXorf59	36027882	1.000000	0.71417	0.997000	0.53966	0.868000	0.49771	0.524000	0.22940	-0.049000	0.13379	0.506000	0.49869	CGG		0.333	CHDC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_173695		T	36117961	C	T	36117961	3	4	692	1	0	0	0	0	1	0	0	0	4117	527	19	1	839	1	CXorf59	23	36117961	Missense_Mutation	SNP	C	TCGA-KL-8323-01A-21D-2310-10		36117961	119152599	63	38305											
USP9X	8239	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	X	41002593	41002593	+	Missense_Mutation	SNP	T	T	G			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chrX:41002593T>G	ENST00000324545.8	+	10	1844	c.1211T>G	c.(1210-1212)cTt>cGt	p.L404R	USP9X_ENST00000378308.2_Missense_Mutation_p.L404R	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	404					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						CGAGATAGTCTTCATCAGCCA	0.338																																					Ovarian(172;1807 2695 35459 49286)											0													62	56	58					X																	41002593		2004	4199	6203	SO:0001583	missense	8239			X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"Ubiquitin-specific peptidases"	12632	protein-coding gene	gene with protein product		300072	"ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)", "ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)", "ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.1211T>G	X.37:g.41002593T>G	ENSP00000316357:p.Leu404Arg		O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.041996	0.75732	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.76709	-1.04;-1.04	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	D	0.86851	0.6032	M	0.81341	2.54	0.80722	D	1	D;D	0.58620	0.964;0.983	P;P	0.61201	0.885;0.771	D	0.88730	0.3236	10	0.72032	D	0.01	.	14.3718	0.66846	0.0:0.0:0.0:1.0	.	404;404	Q93008-1;Q93008	.;USP9X_HUMAN	R	404	ENSP00000367558:L404R;ENSP00000316357:L404R	ENSP00000316357:L404R	L	+	2	0	USP9X	40887537	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.651000	0.83577	1.843000	0.53566	0.339000	0.21740	CTT		0.338	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		G	41002593	T	G	41002593	3	3	692	1	0	0	0	0	1	0	0	0	17095	1609	56	5	1245	5	USP9X	23	41002593	Missense_Mutation	SNP	T	TCGA-KL-8323-01A-21D-2310-10	4884632	41002593	114267967	64	38306											
PHF8	23133	hgsc.bcm.edu	37	X	54049206	54049206	+	Missense_Mutation	SNP	G	G	T			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chrX:54049206G>T	ENST00000357988.5	-	3	635	c.277C>A	c.(277-279)Cat>Aat	p.H93N	PHF8_ENST00000322659.8_Missense_Mutation_p.H57N|PHF8_ENST00000338946.6_Missense_Mutation_p.H57N|PHF8_ENST00000338154.6_Missense_Mutation_p.H57N	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	93					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						GAGGGCCCATGCAAGACTTCA	0.453																																																0													58	44	49					X																	54049206		2203	4300	6503	SO:0001583	missense	23133			AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	20672	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1F"	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.277C>A	X.37:g.54049206G>T	ENSP00000350676:p.His93Asn		B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Missense_Mutation	SNP	ENST00000357988.5	37	CCDS55420.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.134979	0.77662	.	.	ENSG00000172943	ENST00000357988;ENST00000338154;ENST00000338946;ENST00000396277;ENST00000322659;ENST00000425862;ENST00000437224;ENST00000415025;ENST00000453905;ENST00000445025;ENST00000433120	T;T;T;T;T;T;T;T;T;T	0.62498	0.02;0.02;0.02;0.02;0.02;0.02;0.02;0.02;0.02;0.02	5.59	5.59	0.84812	Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.66703	0.2816	M	0.82630	2.6	0.58432	D	0.999999	P;P	0.48407	0.91;0.861	B;B	0.39590	0.274;0.304	T	0.75039	-0.3458	10	0.62326	D	0.03	-5.8121	17.3188	0.87231	0.0:0.0:1.0:0.0	.	57;93	B7Z911;Q9UPP1	.;PHF8_HUMAN	N	93;57;57;87;57;57;57;57;93;57;57	ENSP00000350676:H93N;ENSP00000338868:H57N;ENSP00000340051:H57N;ENSP00000319473:H57N;ENSP00000408113:H57N;ENSP00000398995:H57N;ENSP00000404117:H57N;ENSP00000405897:H93N;ENSP00000416546:H57N;ENSP00000410100:H57N	ENSP00000319473:H57N	H	-	1	0	PHF8	54065931	1.000000	0.71417	1.000000	0.80357	0.743000	0.42351	9.802000	0.99131	2.357000	0.79964	0.538000	0.68166	CAT		0.453	PHF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056784.2	NM_015107		T	54049206	G	T	54049206	3	4	692	1	0	0	0	0	1	0	0	0	11842	1319	46	4	3155	4	PHF8	23	54049206	Missense_Mutation	SNP	G	TCGA-KL-8323-01A-21D-2310-10	13046613	54049206	101221354	65	38307											
ZC4H2	55906	broad.mit.edu;bcgsc.ca	37	X	64137684	64137684	+	Silent	SNP	C	C	T	rs149235340	byFrequency	TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chrX:64137684C>T	ENST00000374839.3	-	5	760	c.654G>A	c.(652-654)ccG>ccA	p.P218P	ZC4H2_ENST00000488608.1_5'UTR|ZC4H2_ENST00000337990.2_Silent_p.P195P|ZC4H2_ENST00000545618.1_Silent_p.P213P|ZC4H2_ENST00000447788.2_Missense_Mutation_p.R164Q	NM_018684.3	NP_061154.1	Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing	218					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						GCTTCCGTTTCGGCTTTTTGG	0.488																																																0								C	,GLN/ARG,	1,3834		0,1,1631,571	167	104	126		585,491,654	-10.8	0.5	X	dbSNP_134	126	1,6727		0,1,2427,1872	no	coding-synonymous,missense,coding-synonymous	ZC4H2	NM_001178032.2,NM_001178033.2,NM_018684.3	,43,	0,2,4058,2443	TT,TC,CC,C		0.0149,0.0261,0.0189	,,	195/202,164/177,218/225	64137684	2,10561	2203	4300	6503	SO:0001819	synonymous_variant	55906			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.654G>A	X.37:g.64137684C>T			B2RDC2|B3KVZ5|B4DED0|E7EM74|G3V1L3|Q53H73|Q5JTF9|Q9H9C3|Q9H9H7|Q9ULQ4	Missense_Mutation	SNP	ENST00000374839.3	37	CCDS14380.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.421866	0.43020	2.61E-4	1.49E-4	ENSG00000126970	ENST00000447788	.	.	.	5.42	-10.8	0.00216	.	.	.	.	.	T	0.34658	0.0905	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16867	-1.0388	7	0.66056	D	0.02	.	3.2734	0.06889	0.0948:0.27:0.3669:0.2684	.	164	B4DED0	.	Q	164	.	ENSP00000399126:R164Q	R	-	2	0	ZC4H2	64054409	0.997000	0.39634	0.497000	0.27552	0.994000	0.84299	0.219000	0.17641	-2.224000	0.00725	-0.365000	0.07479	CGA		0.488	ZC4H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056958.1	NM_018684		T	64137684	C	T	64137684	2	4	692	1	0	0	0	0	0	0	0	1	17583	884	31	1		1	ZC4H2	23	64137684	Silent	SNP	C	TCGA-KL-8323-01A-21D-2310-10	10088478	64137684	91132876	66	38308											
ATP11C	286410	broad.mit.edu	37	X	138823233	138823233	+	Missense_Mutation	SNP	G	G	C			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chrX:138823233G>C	ENST00000327569.3	-	27	3158	c.3060C>G	c.(3058-3060)ttC>ttG	p.F1020L	ATP11C_ENST00000359686.2_Missense_Mutation_p.F1020L|ATP11C_ENST00000370543.1_Missense_Mutation_p.F1020L|ATP11C_ENST00000361648.2_Missense_Mutation_p.F1020L|ATP11C_ENST00000370557.1_Missense_Mutation_p.F1014L|ATP11C_ENST00000460773.1_5'UTR	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	1020					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)					TCCACGTCCAGAATCGGGTAT	0.388																																																0													69	61	64					X																	138823233		2203	4300	6503	SO:0001583	missense	286410			AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"ATPases / P-type"	13554	protein-coding gene	gene with protein product		300516	"ATPase, Class VI, type 11C"			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.3060C>G	X.37:g.138823233G>C	ENSP00000332756:p.Phe1020Leu		Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Missense_Mutation	SNP	ENST00000327569.3	37	CCDS14668.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.9|21.9	4.220727|4.220727	0.79464|0.79464	.|.	.|.	ENSG00000101974|ENSG00000101974	ENST00000370557;ENST00000361648;ENST00000327569;ENST00000450801;ENST00000370543;ENST00000359686|ENST00000433868	T;T;T;T;T;T|.	0.59083|.	0.29;0.29;0.29;0.29;0.29;0.29|.	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	0.102643|.	0.64402|.	D|.	0.000002|.	T|T	0.57184|0.57184	0.2036|0.2036	L|L	0.28504|0.28504	0.86|0.86	0.58432|0.58432	D|D	0.999994|0.999994	B;B;B|.	0.31383|.	0.321;0.215;0.321|.	B;B;B|.	0.35550|.	0.205;0.101;0.205|.	T|T	0.52764|0.52764	-0.8532|-0.8532	10|5	0.49607|.	T|.	0.09|.	.|.	17.4019|17.4019	0.87463|0.87463	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1020;1020;1020|.	Q8NB49-3;Q8NB49;Q8NB49-2|.	.;AT11C_HUMAN;.|.	L|V	1014;1020;1020;84;1020;1020|53	ENSP00000359588:F1014L;ENSP00000355165:F1020L;ENSP00000332756:F1020L;ENSP00000391259:F84L;ENSP00000359574:F1020L;ENSP00000352715:F1020L|.	ENSP00000332756:F1020L|.	F|L	-|-	3|1	2|2	ATP11C|ATP11C	138650899|138650899	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	7.578000|7.578000	0.82498|0.82498	2.323000|2.323000	0.78572|0.78572	0.600000|0.600000	0.82982|0.82982	TTC|CTG		0.388	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694		C	138823233	G	C	138823233	3	2	692	1	0	0	0	0	1	0	0	0	1121	933	33	4	417	4	ATP11C	23	138823233	Missense_Mutation	SNP	G	TCGA-KL-8323-01A-21D-2310-10	74685549	138823233	16447327	67	38309											
IL28RA	163702	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	24484160	24484160	+	Missense_Mutation	SNP	C	C	A			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr1:24484160C>A	ENST00000327535.1	-	7	1035	c.1023G>T	c.(1021-1023)caG>caT	p.Q341H	IFNLR1_ENST00000374421.3_Missense_Mutation_p.Q312H|IFNLR1_ENST00000327575.2_3'UTR	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1	Q8IU57	INLR1_HUMAN	interferon, lambda receptor 1	341					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mucosal immune response (GO:0002385)|negative regulation of cell proliferation (GO:0008285)|regulation of defense response to virus by host (GO:0050691)|response to type III interferon (GO:0034342)	integral component of membrane (GO:0016021)|interleukin-28 receptor complex (GO:0032002)											CAATGTAGGGCTGGAAGCTGA	0.612																																																0													147	136	140					1																	24484160		2203	4300	6503	SO:0001583	missense	163702			AY129153	CCDS248.1, CCDS249.1, CCDS250.1	1p36.11	2012-11-27	2012-11-26	2012-11-26	ENSG00000185436	ENSG00000185436		"Interferons"	18584	protein-coding gene	gene with protein product	"interferon lambda receptor 1"	607404	"interleukin 28 receptor, alpha", "interleukin 28 receptor, alpha (interferon, lambda receptor)"	IL28RA			Standard	NM_173064		Approved	CRF2/12, IFNLR, IL-28R1	uc001bis.3	Q8IU57	OTTHUMG00000003036	ENST00000327535.1:c.1023G>T	1.37:g.24484160C>A	ENSP00000327824:p.Gln341His		Q5VTX5|Q5VTX7|Q5VTX8|Q6ZML8|Q8IV66|Q8IZI7|Q8IZI8	Missense_Mutation	SNP	ENST00000327535.1	37	CCDS248.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.510138	0.44660	.	.	ENSG00000185436	ENST00000327535;ENST00000374421	.	.	.	5.73	1.57	0.23409	.	2.259870	0.01080	N	0.004971	T	0.71745	0.3376	M	0.61703	1.905	0.53005	D	0.999961	D;B	0.76494	0.999;0.328	D;B	0.70716	0.97;0.085	T	0.57562	-0.7790	9	0.51188	T	0.08	-4.6758	4.9948	0.14233	0.2964:0.5395:0.0:0.1641	.	341;312	Q8IU57;Q8IU57-2	I28RA_HUMAN;.	H	341;312	.	ENSP00000327824:Q341H	Q	-	3	2	IL28RA	24356747	0.998000	0.40836	0.999000	0.59377	0.257000	0.26127	0.138000	0.16016	0.389000	0.25086	0.655000	0.94253	CAG		0.612	IFNLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000008402.1	NM_170743		A	24484160	C	A	24484160	3	1	693	1	0	0	0	0	1	0	0	0	7686	796	28	4	543	4	IL28RA	1	24484160	Missense_Mutation	SNP	C	TCGA-KL-8324-01A-11D-2310-10		24484160	224766461	1	38310											
TMEM61	199964	hgsc.bcm.edu;mdanderson.org	37	1	55457726	55457726	+	Missense_Mutation	SNP	G	G	T			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr1:55457726G>T	ENST00000371268.3	+	3	857	c.583G>T	c.(583-585)Gcc>Tcc	p.A195S	RP11-12C17.2_ENST00000436960.1_RNA	NM_182532.1	NP_872338.1	Q8N0U2	TMM61_HUMAN	transmembrane protein 61	195						integral component of membrane (GO:0016021)				endometrium(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	4						GACACCGAGTGCCACACGCTC	0.602																																																0													109	110	109					1																	55457726		2203	4300	6503	SO:0001583	missense	199964			BC029775	CCDS601.1	1p32.3	2008-02-05			ENSG00000143001	ENSG00000143001			27296	protein-coding gene	gene with protein product						12477932	Standard	NM_182532		Approved		uc001cyd.3	Q8N0U2	OTTHUMG00000009991	ENST00000371268.3:c.583G>T	1.37:g.55457726G>T	ENSP00000360315:p.Ala195Ser			Missense_Mutation	SNP	ENST00000371268.3	37	CCDS601.1	.	.	.	.	.	.	.	.	.	.	G	5.273	0.235726	0.10023	.	.	ENSG00000143001	ENST00000371268	T	0.46819	0.86	3.57	-0.174	0.13319	.	1.587460	0.04001	N	0.296491	T	0.29061	0.0722	N	0.14661	0.345	0.09310	N	1	B	0.25904	0.137	B	0.28709	0.093	T	0.14699	-1.0463	10	0.13108	T	0.6	0.0513	5.9693	0.19342	0.195:0.245:0.56:0.0	.	195	Q8N0U2	TMM61_HUMAN	S	195	ENSP00000360315:A195S	ENSP00000360315:A195S	A	+	1	0	TMEM61	55230314	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.158000	0.16422	-0.268000	0.09312	-1.598000	0.00824	GCC		0.602	TMEM61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027683.1	NM_182532		T	55457726	G	T	55457726	3	4	693	1	0	0	0	0	1	0	0	0	16193	1319	46	4	593	4	TMEM61	1	55457726	Missense_Mutation	SNP	G	TCGA-KL-8324-01A-11D-2310-10	30973566	55457726	193792895	2	38311											
AGL	178	broad.mit.edu	37	1	100353594	100353594	+	Silent	SNP	A	A	G			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr1:100353594A>G	ENST00000294724.4	+	21	3220	c.2742A>G	c.(2740-2742)gaA>gaG	p.E914E	AGL_ENST00000361915.3_Silent_p.E914E|AGL_ENST00000361302.3_Silent_p.E898E|AGL_ENST00000370161.2_Silent_p.E898E|AGL_ENST00000370163.3_Silent_p.E914E|AGL_ENST00000361522.4_Silent_p.E897E|AGL_ENST00000370165.3_Silent_p.E914E	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	914					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)		GTGAATCAGAAGAAAAGGAAG	0.393																																																0													118	112	114					1																	100353594		2203	4300	6503	SO:0001819	synonymous_variant	178			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.2742A>G	1.37:g.100353594A>G			A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Silent	SNP	ENST00000294724.4	37	CCDS759.1																																																																																				0.393	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		G	100353594	A	G	100353594	2	3	693	1	0	0	0	0	0	0	0	1	384	69	3	3		3	AGL	1	100353594	Silent	SNP	A	TCGA-KL-8324-01A-11D-2310-10	44895868	100353594	148897027	3	38312											
KIAA1324	57535	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	109731772	109731772	+	Missense_Mutation	SNP	C	C	T	rs143784237		TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr1:109731772C>T	ENST00000369939.3	+	10	1487	c.1304C>T	c.(1303-1305)aCg>aTg	p.T435M	KIAA1324_ENST00000369938.1_3'UTR|KIAA1324_ENST00000529753.1_Missense_Mutation_p.T348M	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	435					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)		AACATGGAAACGACCGTTCTC	0.537																																																0								C	MET/THR	0,4406		0,0,2203	108	88	95		1304	5.1	0.9	1	dbSNP_134	95	1,8599	1.2+/-3.3	0,1,4299	no	missense	KIAA1324	NM_020775.3	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	435/1014	109731772	1,13005	2203	4300	6503	SO:0001583	missense	57535			AK057647	CCDS794.1, CCDS58015.1	1p13.3	2008-09-18			ENSG00000116299	ENSG00000116299			29618	protein-coding gene	gene with protein product	"estrogen induced gene 121"	611298				10718198, 16322283	Standard	NM_020775		Approved	maba1, EIG121	uc021orb.1	Q6UXG2	OTTHUMG00000011725	ENST00000369939.3:c.1304C>T	1.37:g.109731772C>T	ENSP00000358955:p.Thr435Met		Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	Missense_Mutation	SNP	ENST00000369939.3	37	CCDS794.1	.	.	.	.	.	.	.	.	.	.	C	19.10	3.761923	0.69763	0.0	1.16E-4	ENSG00000116299	ENST00000369939;ENST00000457623;ENST00000529753	T;T;T	0.43294	0.95;0.95;0.95	5.12	5.12	0.69794	Growth factor, receptor (1);	0.044050	0.85682	D	0.000000	T	0.47600	0.1454	L	0.46157	1.445	0.47374	D	0.999404	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.70716	0.97;0.969;0.959;0.959	T	0.46176	-0.9210	10	0.62326	D	0.03	-14.8291	13.2299	0.59936	0.0:0.8399:0.1601:0.0	.	435;348;435;435	Q6UXG2-4;Q6UXG2-3;C9J810;Q6UXG2	.;.;.;K1324_HUMAN	M	435;385;348	ENSP00000358955:T435M;ENSP00000393964:T385M;ENSP00000434595:T348M	ENSP00000358955:T435M	T	+	2	0	KIAA1324	109533295	1.000000	0.71417	0.927000	0.36925	0.929000	0.56500	4.981000	0.63819	2.669000	0.90835	0.561000	0.74099	ACG		0.537	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032389.2	NM_020775		T	109731772	C	T	109731772	3	4	693	1	0	0	0	0	1	0	0	0	8225	536	19	1	1342	1	KIAA1324	1	109731772	Missense_Mutation	SNP	C	TCGA-KL-8324-01A-11D-2310-10	9378178	109731772	139518849	4	38313											
MOV10	4343	ucsc.edu	37	1	113241049	113241049	+	Silent	SNP	A	A	G			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr1:113241049A>G	ENST00000413052.2	+	16	2847	c.2457A>G	c.(2455-2457)aaA>aaG	p.K819K	MOV10_ENST00000369644.1_Silent_p.K763K|MOV10_ENST00000369645.1_Silent_p.K819K|RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000357443.2_Silent_p.K819K	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	819					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		AGAAGGGCAAAGCTCGCCTGA	0.607																																																0													60	48	52					1																	113241049		2203	4300	6503	SO:0001819	synonymous_variant	4343			AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 113"	610742	"Mov10 (Moloney leukemia virus 10, mouse) homolog", "Mov10, Moloney leukemia virus 10, homolog (mouse)"			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.2457A>G	1.37:g.113241049A>G			Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Silent	SNP	ENST00000413052.2	37	CCDS853.1																																																																																				0.607	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1	NM_020963		G	113241049	A	G	113241049	2	3	693	1	0	0	0	0	0	0	0	1	9720	69	3	3		3	MOV10	1	113241049	Silent	SNP	A	TCGA-KL-8324-01A-11D-2310-10	3509277	113241049	136009572	5	38314											
SPAG17	200162	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	118535252	118535252	+	Missense_Mutation	SNP	G	G	A	rs147490539		TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr1:118535252G>A	ENST00000336338.5	-	36	5263	c.5198C>T	c.(5197-5199)cCg>cTg	p.P1733L		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1733						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)		AGTACCAAACGGAGGTCCTGG	0.413													G|||	1	0.000199681	0.0	0.0	5008	,	,		16444	0.0		0.0	False		,,,				2504	0.001															0								G	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	59	60	60		5198	4.7	0.9	1	dbSNP_134	60	0,8600		0,0,4300	no	missense	SPAG17	NM_206996.2	98	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	1733/2224	118535252	1,13005	2203	4300	6503	SO:0001583	missense	200162				CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.5198C>T	1.37:g.118535252G>A	ENSP00000337804:p.Pro1733Leu		Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	CCDS899.1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.749133	0.69533	2.27E-4	0.0	ENSG00000155761	ENST00000336338;ENST00000437255	T	0.19532	2.14	5.6	4.69	0.59074	.	0.298320	0.36778	N	0.002404	T	0.25195	0.0612	M	0.61703	1.905	0.45342	D	0.998335	D	0.65815	0.995	P	0.53809	0.735	T	0.04454	-1.0950	10	0.66056	D	0.02	.	15.5732	0.76356	0.0:0.1386:0.8614:0.0	.	1733	Q6Q759	SPG17_HUMAN	L	1733;213	ENSP00000337804:P1733L	ENSP00000337804:P1733L	P	-	2	0	SPAG17	118336775	0.999000	0.42202	0.911000	0.35937	0.892000	0.51952	3.391000	0.52530	1.362000	0.46000	-0.150000	0.13652	CCG		0.413	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		A	118535252	G	A	118535252	3	1	693	1	0	0	0	0	1	0	0	0	14985	1116	39	1	1525	1	SPAG17	1	118535252	Missense_Mutation	SNP	G	TCGA-KL-8324-01A-11D-2310-10	5294203	118535252	130715369	6	38315											
SLC9A11	284525	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	173506159	173506159	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr1:173506159C>T	ENST00000367714.3	-	14	1999	c.1577G>A	c.(1576-1578)cGt>cAt	p.R526H	SLC9C2_ENST00000466087.1_5'UTR|SLC9C2_ENST00000536496.1_Missense_Mutation_p.R424H	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	526					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										TCCATTGTTACGCTGTTTTTC	0.333																																																0													122	125	124					1																	173506159		2203	4300	6503	SO:0001583	missense	284525			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.1577G>A	1.37:g.173506159C>T	ENSP00000356687:p.Arg526His		Q86UF3	Missense_Mutation	SNP	ENST00000367714.3	37	CCDS1308.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.694967	0.30052	.	.	ENSG00000162753	ENST00000367714;ENST00000536496	T;T	0.09350	3.68;2.99	5.52	2.16	0.27623	.	0.287004	0.30584	N	0.009306	T	0.01189	0.0039	N	0.08118	0	0.23882	N	0.996578	P	0.44986	0.847	B	0.28991	0.097	T	0.48917	-0.8992	10	0.42905	T	0.14	-10.8475	8.0928	0.30811	0.0:0.7038:0.0:0.2962	.	526	Q5TAH2	S9A11_HUMAN	H	526;424	ENSP00000356687:R526H;ENSP00000445437:R424H	ENSP00000356687:R526H	R	-	2	0	SLC9A11	171772782	0.794000	0.28838	0.774000	0.31636	0.801000	0.45260	0.297000	0.19101	0.691000	0.31592	0.508000	0.49915	CGT		0.333	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527		T	173506159	C	T	173506159	3	4	693	1	0	0	0	0	1	0	0	0	14717	536	19	1	1857	1	SLC9A11	1	173506159	Missense_Mutation	SNP	C	TCGA-KL-8324-01A-11D-2310-10	54970907	173506159	75744462	7	38316											
CR2	1380	bcgsc.ca	37	1	207644142	207644142	+	Missense_Mutation	SNP	G	G	A	rs183067414	byFrequency	TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr1:207644142G>A	ENST00000367058.3	+	7	1472	c.1283G>A	c.(1282-1284)cGc>cAc	p.R428H	CR2_ENST00000367057.3_Missense_Mutation_p.R428H|CR2_ENST00000458541.2_Missense_Mutation_p.R428H|CR2_ENST00000367059.3_Missense_Mutation_p.R428H	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	428	Sushi 7. {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						CACATGGTCCGCTTTGACCCT	0.453													G|||	4	0.000798722	0.0015	0.0029	5008	,	,		19590	0.0		0.0	False		,,,				2504	0.0															0													85	84	85					1																	207644142		2203	4300	6503	SO:0001583	missense	1380			M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"CD molecules", "Complement system"	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.1283G>A	1.37:g.207644142G>A	ENSP00000356025:p.Arg428His		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	ENST00000367058.3	37	CCDS1478.1	2	9.157509157509158E-4	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	0	0.0	G	9.287	1.049735	0.19827	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	4.57	-0.802	0.10889	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.66307	0.2776	L	0.46741	1.465	0.09310	N	0.999996	P;D;D	0.69078	0.589;0.997;0.996	B;D;D	0.63877	0.141;0.919;0.912	T	0.56860	-0.7909	9	0.45353	T	0.12	.	8.0768	0.30720	0.48:0.0:0.52:0.0	.	428;428;428	Q5SR47;P20023;P20023-3	.;CR2_HUMAN;.	H	428	ENSP00000356025:R428H;ENSP00000356024:R428H;ENSP00000356026:R428H;ENSP00000404222:R428H	ENSP00000356024:R428H	R	+	2	0	CR2	205710765	0.001000	0.12720	0.124000	0.21820	0.035000	0.12851	-0.548000	0.06048	-0.243000	0.09653	-0.793000	0.03317	CGC		0.453	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		A	207644142	G	A	207644142	3	1	693	1	0	0	0	0	1	0	0	0	3844	1087	38	1	1309	1	CR2	1	207644142	Missense_Mutation	SNP	G	TCGA-KL-8324-01A-11D-2310-10	34137983	207644142	41606479	8	38317											
OR2T3	343173	broad.mit.edu	37	1	248637594	248637594	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr1:248637594A>G	ENST00000359594.2	+	1	968	c.943A>G	c.(943-945)Aac>Gac	p.N315D		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	315						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)			GTCAAGAATGAACCAAGAAAA	0.488																																																0													208	227	220					1																	248637594		2201	4298	6499	SO:0001583	missense	343173				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.943A>G	1.37:g.248637594A>G	ENSP00000352604:p.Asn315Asp		B2RNJ1	Missense_Mutation	SNP	ENST00000359594.2	37	CCDS31117.1	.	.	.	.	.	.	.	.	.	.	a	3.158	-0.172775	0.06421	.	.	ENSG00000196539	ENST00000359594	T	0.09911	2.93	1.24	-0.0673	0.13761	.	.	.	.	.	T	0.06005	0.0156	N	0.19112	0.55	0.09310	N	1	B	0.14012	0.009	B	0.12156	0.007	T	0.38373	-0.9664	9	0.44086	T	0.13	.	3.1863	0.06602	0.6196:0.0:0.0:0.3804	.	315	Q8NH03	OR2T3_HUMAN	D	315	ENSP00000352604:N315D	ENSP00000352604:N315D	N	+	1	0	OR2T3	246704217	0.007000	0.16637	0.005000	0.12908	0.163000	0.22366	1.757000	0.38400	-0.035000	0.13691	0.156000	0.16432	AAC		0.488	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097348.1	NM_001005495		G	248637594	A	G	248637594	3	3	693	1	0	0	0	0	1	0	0	0	11025	246	9	3	945	3	OR2T3	1	248637594	Missense_Mutation	SNP	A	TCGA-KL-8324-01A-11D-2310-10	40993452	248637594	613027	9	38318											
LPIN1	23175	broad.mit.edu	37	2	11922578	11922578	+	Silent	SNP	C	C	T			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr2:11922578C>T	ENST00000256720.2	+	7	1194	c.1101C>T	c.(1099-1101)ccC>ccT	p.P367P	LPIN1_ENST00000396098.1_Silent_p.P409P|LPIN1_ENST00000425416.2_Silent_p.P373P|LPIN1_ENST00000396097.1_Silent_p.P97P|LPIN1_ENST00000396099.1_Silent_p.P409P|LPIN1_ENST00000449576.2_Silent_p.P452P	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	367					cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		TCAAACCCCCCTCTGCCAGTG	0.517																																																0													76	78	77					2																	11922578		2203	4300	6503	SO:0001819	synonymous_variant	23175			D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.1101C>T	2.37:g.11922578C>T			A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Silent	SNP	ENST00000256720.2	37	CCDS1682.1																																																																																				0.517	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239296.3	NM_145693		T	11922578	C	T	11922578	2	4	693	1	0	0	0	0	0	0	0	1	8920	668	24	2		2	LPIN1	2	11922578	Silent	SNP	C	TCGA-KL-8324-01A-11D-2310-10		11922578	231276795	10	38319											
CCDC88A	55704	broad.mit.edu	37	2	55544911	55544911	+	Missense_Mutation	SNP	G	G	T			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr2:55544911G>T	ENST00000436346.1	-	20	4232	c.3391C>A	c.(3391-3393)Cag>Aag	p.Q1131K	AC012358.8_ENST00000600219.1_RNA|CCDC88A_ENST00000263630.8_Missense_Mutation_p.Q1131K|CCDC88A_ENST00000413716.2_Missense_Mutation_p.Q1130K|AC012358.8_ENST00000599352.1_RNA|CCDC88A_ENST00000336838.6_Missense_Mutation_p.Q1130K|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000608103.1_RNA|AC012358.8_ENST00000599475.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1131					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						GAAGACTGCTGGATTAGGAGT	0.353																																																0													134	137	136					2																	55544911		2203	4300	6503	SO:0001583	missense	55704			AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"Galpha-interacting vesicle-associated protein", "Akt-phosphorylation enhancer", "girdin", "girders of actin filaments"	609736	"KIAA1212"	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.3391C>A	2.37:g.55544911G>T	ENSP00000410608:p.Gln1131Lys		A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	ENST00000436346.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.21|17.21	3.330910|3.330910	0.60853|0.60853	.|.	.|.	ENSG00000115355|ENSG00000115355	ENST00000456975|ENST00000336838;ENST00000263630;ENST00000436346;ENST00000412148;ENST00000413716;ENST00000426576	.|T;T;T;D;T;T	.|0.84873	.|2.35;2.59;2.58;-1.91;2.37;1.33	6.02|6.02	5.13|5.13	0.70059|0.70059	.|.	.|0.000000	.|0.45606	.|U	.|0.000351	D|D	0.91656|0.91656	0.7363|0.7363	M|M	0.75615|0.75615	2.305|2.305	0.80722|0.80722	D|D	1|1	.|B;D;B;P;P;B	.|0.59767	.|0.402;0.986;0.33;0.589;0.532;0.28	.|B;D;B;B;B;B	.|0.72338	.|0.258;0.977;0.132;0.325;0.259;0.323	D|D	0.91073|0.91073	0.4894|0.4894	5|10	.|0.37606	.|T	.|0.19	-11.3295|-11.3295	16.6928|16.6928	0.85326|0.85326	0.0:0.0:0.8693:0.1306|0.0:0.0:0.8693:0.1306	.|.	.|1130;1131;1076;1131;1130;1130	.|B7ZM78;Q3V6T2-2;D6W5D1;Q3V6T2;Q3V6T2-3;Q3V6T2-4	.|.;.;.;GRDN_HUMAN;.;.	Q|K	111|1130;1131;1131;176;1130;306	.|ENSP00000338728:Q1130K;ENSP00000263630:Q1131K;ENSP00000410608:Q1131K;ENSP00000390012:Q176K;ENSP00000404431:Q1130K;ENSP00000405080:Q306K	.|ENSP00000263630:Q1131K	P|Q	-|-	2|1	0|0	CCDC88A|CCDC88A	55398415|55398415	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.673000|0.673000	0.39480|0.39480	9.623000|9.623000	0.98386|0.98386	1.533000|1.533000	0.49186|0.49186	-0.188000|-0.188000	0.12872|0.12872	CCA|CAG		0.353	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571		T	55544911	G	T	55544911	3	4	693	1	0	0	0	0	1	0	0	0	2865	1357	47	4	2276	4	CCDC88A	2	55544911	Missense_Mutation	SNP	G	TCGA-KL-8324-01A-11D-2310-10	43622333	55544911	187654462	11	38320											
FSIP2	401024	broad.mit.edu;ucsc.edu;mdanderson.org	37	2	186689203	186689203	+	Silent	SNP	A	A	G			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr2:186689203A>G	ENST00000424728.1	+	20	20469	c.20469A>G	c.(20467-20469)ttA>ttG	p.L6823L	FSIP2_ENST00000343098.5_Silent_p.L6912L			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	6823										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CTAAAATATTAGAAGGTTGGA	0.289																																																0													114	102	105					2																	186689203		1796	4067	5863	SO:0001819	synonymous_variant	401024			AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.20469A>G	2.37:g.186689203A>G			Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Silent	SNP	ENST00000424728.1	37																																																																																					0.289	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651		G	186689203	A	G	186689203	2	3	693	1	0	0	0	0	0	0	0	1	6077	417	15	3		3	FSIP2	2	186689203	Silent	SNP	A	TCGA-KL-8324-01A-11D-2310-10	131144292	186689203	56510170	12	38321											
HECW2	57520	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	197106878	197106878	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr2:197106878C>T	ENST00000260983.3	-	20	3762	c.3580G>A	c.(3580-3582)Gaa>Aaa	p.E1194K	HECW2_ENST00000409111.1_Missense_Mutation_p.E838K	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1194					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						AGTTTGGCTTCGAAATCCCGC	0.483																																																0													167	167	167					2																	197106878		2203	4300	6503	SO:0001583	missense	57520			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.3580G>A	2.37:g.197106878C>T	ENSP00000260983:p.Glu1194Lys		B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.713155	0.89112	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	D;D	0.87412	-2.25;-2.25	4.75	4.75	0.60458	HECT (1);	0.059233	0.64402	D	0.000002	D	0.92437	0.7599	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	D	0.90986	0.4831	10	0.30854	T	0.27	.	17.9302	0.88994	0.0:1.0:0.0:0.0	.	1194	Q9P2P5	HECW2_HUMAN	K	838;1194	ENSP00000386775:E838K;ENSP00000260983:E1194K	ENSP00000260983:E1194K	E	-	1	0	HECW2	196815123	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.651000	0.83577	2.466000	0.83321	0.563000	0.77884	GAA		0.483	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		T	197106878	C	T	197106878	3	4	693	1	0	0	0	0	1	0	0	0	7045	893	31	1	1178	1	HECW2	2	197106878	Missense_Mutation	SNP	C	TCGA-KL-8324-01A-11D-2310-10	10417675	197106878	46092495	13	38322											
SLC6A6	6533	broad.mit.edu;bcgsc.ca	37	3	14513818	14513818	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr3:14513818A>G	ENST00000454876.2	+	10	1531	c.1202A>G	c.(1201-1203)gAt>gGt	p.D401G	SLC6A6_ENST00000360861.3_Missense_Mutation_p.D401G			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	401					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|taurine transport (GO:0015734)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|taurine binding (GO:0030977)|taurine:sodium symporter activity (GO:0005369)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						CTTGGACTGGATAGCCAGGTG	0.537																																																0													101	93	96					3																	14513818		2203	4300	6503	SO:0001583	missense	6533				CCDS33705.1, CCDS46765.1	3p25.1	2013-07-19	2013-07-19		ENSG00000131389	ENSG00000131389		"Solute carriers"	11052	protein-coding gene	gene with protein product	"taurine transporter"	186854	"solute carrier family 6 (neurotransmitter transporter, taurine), member 6"			8010975, 8382624	Standard	XM_006713307		Approved	TAUT	uc010heg.4	P31641	OTTHUMG00000155525	ENST00000454876.2:c.1202A>G	3.37:g.14513818A>G	ENSP00000398063:p.Asp401Gly		B2RNU7|Q9BRI2|Q9BXB0	Missense_Mutation	SNP	ENST00000454876.2	37	CCDS33705.1	.	.	.	.	.	.	.	.	.	.	A	27.0	4.790541	0.90367	.	.	ENSG00000131389	ENST00000454876;ENST00000360861	T;T	0.74737	-0.87;-0.87	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.84160	0.5411	M	0.62209	1.925	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.85190	0.1009	10	0.54805	T	0.06	.	15.3455	0.74334	1.0:0.0:0.0:0.0	.	401	P31641	SC6A6_HUMAN	G	401	ENSP00000398063:D401G;ENSP00000354107:D401G	ENSP00000354107:D401G	D	+	2	0	SLC6A6	14488822	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.339000	0.96797	2.021000	0.59480	0.482000	0.46254	GAT		0.537	SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340507.1	NM_003043		G	14513818	A	G	14513818	3	3	693	1	0	0	0	0	1	0	0	0	14694	333	12	3	1236	3	SLC6A6	3	14513818	Missense_Mutation	SNP	A	TCGA-KL-8324-01A-11D-2310-10		14513818	183508612	14	38323											
SCN10A	6336	broad.mit.edu;mdanderson.org	37	3	38739266	38739266	+	Silent	SNP	G	G	A	rs111535651	byFrequency	TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr3:38739266G>A	ENST00000449082.2	-	27	5444	c.5445C>T	c.(5443-5445)tcC>tcT	p.S1815S		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1815					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)	CCAACTCCCCGGATTCTCCTA	0.438																																																0													66	66	66					3																	38739266		2203	4300	6503	SO:0001819	synonymous_variant	6336			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.5445C>T	3.37:g.38739266G>A			A6NDQ1	Silent	SNP	ENST00000449082.2	37	CCDS33736.1																																																																																				0.438	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		A	38739266	G	A	38739266	2	1	693	1	0	0	0	0	0	0	0	1	13918	1103	39	1		1	SCN10A	3	38739266	Silent	SNP	G	TCGA-KL-8324-01A-11D-2310-10	24225448	38739266	159283164	15	38324											
LYZL4	131375	broad.mit.edu	37	3	42438812	42438812	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr3:42438812C>T	ENST00000287748.3	-	5	661	c.386G>A	c.(385-387)cGg>cAg	p.R129Q	LYZL4_ENST00000470991.1_5'UTR|LYZL4_ENST00000441172.1_Missense_Mutation_p.R129Q	NM_144634.2	NP_653235.1	Q96KX0	LYZL4_HUMAN	lysozyme-like 4	129					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)|nucleus (GO:0005634)	lysozyme activity (GO:0003796)			central_nervous_system(1)|endometrium(1)|lung(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.222)		CTGGCAGTACCGGGACCAGGT	0.577																																																0													36	33	34					3																	42438812		2199	4294	6493	SO:0001583	missense	131375			BC016747, AF326749	CCDS2697.1	3p21.33	2006-04-12			ENSG00000157093	ENSG00000157093			28387	protein-coding gene	gene with protein product		612750				12477932	Standard	NM_144634		Approved	MGC26768, LYC4	uc003cle.3	Q96KX0	OTTHUMG00000131793	ENST00000287748.3:c.386G>A	3.37:g.42438812C>T	ENSP00000287748:p.Arg129Gln			Missense_Mutation	SNP	ENST00000287748.3	37	CCDS2697.1	.	.	.	.	.	.	.	.	.	.	C	9.139	1.013375	0.19277	.	.	ENSG00000157093	ENST00000287748;ENST00000441172	T;T	0.44482	0.92;0.92	4.69	-4.11	0.03928	Lysozyme-like domain (1);	1.384820	0.05121	N	0.490651	T	0.24470	0.0593	N	0.25144	0.715	0.20196	N	0.999924	B	0.13594	0.008	B	0.06405	0.002	T	0.18555	-1.0333	10	0.32370	T	0.25	-0.0566	4.8737	0.13646	0.3737:0.1913:0.0:0.4351	.	129	Q96KX0	LYZL4_HUMAN	Q	129	ENSP00000287748:R129Q;ENSP00000387897:R129Q	ENSP00000287748:R129Q	R	-	2	0	LYZL4	42413816	0.311000	0.24536	0.886000	0.34754	0.458000	0.32498	-0.153000	0.10144	-0.456000	0.07043	-0.269000	0.10298	CGG		0.577	LYZL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254729.2	NM_144634		T	42438812	C	T	42438812	3	4	693	1	0	0	0	0	1	0	0	0	9135	652	23	1	58	1	LYZL4	3	42438812	Missense_Mutation	SNP	C	TCGA-KL-8324-01A-11D-2310-10	3699546	42438812	155583618	16	38325											
CELSR3	1951	hgsc.bcm.edu;mdanderson.org	37	3	48682486	48682486	+	Missense_Mutation	SNP	C	C	A	rs147124288	byFrequency	TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr3:48682486C>A	ENST00000164024.4	-	25	8234	c.7954G>T	c.(7954-7956)Gtc>Ttc	p.V2652F	CELSR3_ENST00000544264.1_Missense_Mutation_p.V2657F|MIR4793_ENST00000577502.1_RNA	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2652					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)		ACAGCAGGGACGCCCCAGCCC	0.662																																																0													34	37	36					3																	48682486		2200	4297	6497	SO:0001583	missense	1951			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3230	protein-coding gene	gene with protein product	"flamingo homolog 1 (Drosophila)"	604264	"cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.7954G>T	3.37:g.48682486C>A	ENSP00000164024:p.Val2652Phe		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.001497	0.74818	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.38722	1.12;1.12	5.15	3.36	0.38483	GPCR, family 2-like (1);	.	.	.	.	T	0.54663	0.1872	L	0.48986	1.54	0.58432	D	0.999996	D;D	0.65815	0.977;0.995	P;D	0.67382	0.896;0.951	T	0.54510	-0.8283	9	0.72032	D	0.01	.	11.4727	0.50280	0.0:0.8528:0.0:0.1472	.	2652;2749	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	F	2652;2657	ENSP00000164024:V2652F;ENSP00000445694:V2657F	ENSP00000164024:V2652F	V	-	1	0	CELSR3	48657490	0.998000	0.40836	0.695000	0.30226	0.936000	0.57629	3.769000	0.55303	0.574000	0.29417	-0.339000	0.08088	GTC		0.662	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		A	48682486	C	A	48682486	3	1	693	1	0	0	0	0	1	0	0	0	3225	536	19	4	2028	4	CELSR3	3	48682486	Missense_Mutation	SNP	C	TCGA-KL-8324-01A-11D-2310-10	6243674	48682486	149339944	17	38326											
CCDC80	151887	broad.mit.edu	37	3	112357042	112357042	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr3:112357042T>C	ENST00000206423.3	-	2	2664	c.1711A>G	c.(1711-1713)Aag>Gag	p.K571E	CCDC80_ENST00000475181.1_5'Flank|CCDC80_ENST00000439685.2_Missense_Mutation_p.K571E	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	571	Lys-rich.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						ttctcagacttcttcatttgc	0.368																																																0													166	143	151					3																	112357042		2203	4300	6503	SO:0001583	missense	151887			AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"steroid sensitive gene 1"	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.1711A>G	3.37:g.112357042T>C	ENSP00000206423:p.Lys571Glu		D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Missense_Mutation	SNP	ENST00000206423.3	37	CCDS2968.1	.	.	.	.	.	.	.	.	.	.	T	17.85	3.489827	0.64074	.	.	ENSG00000091986	ENST00000206423;ENST00000439685;ENST00000444594	T;T	0.51325	0.71;0.71	5.52	5.52	0.82312	.	0.201324	0.50627	D	0.000101	T	0.37598	0.1009	L	0.27053	0.805	0.36946	D	0.89262	P;P;B	0.42692	0.687;0.787;0.355	B;B;B	0.39503	0.301;0.158;0.1	T	0.46359	-0.9197	10	0.42905	T	0.14	-27.697	15.6438	0.77033	0.0:0.0:0.0:1.0	.	582;571;571	Q76M96-2;A3KC71;Q76M96	.;.;CCD80_HUMAN	E	571;571;199	ENSP00000206423:K571E;ENSP00000411814:K571E	ENSP00000206423:K571E	K	-	1	0	CCDC80	113839732	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.304000	0.51866	2.096000	0.63516	0.454000	0.30748	AAG		0.368	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	NM_199511		C	112357042	T	C	112357042	3	2	693	1	0	0	0	0	1	0	0	0	2856	1792	62	3	1169	3	CCDC80	3	112357042	Missense_Mutation	SNP	T	TCGA-KL-8324-01A-11D-2310-10	63674556	112357042	85665388	18	38327											
GRAMD1C	54762	ucsc.edu	37	3	113594422	113594422	+	Silent	SNP	A	A	G			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr3:113594422A>G	ENST00000358160.4	+	4	843	c.351A>G	c.(349-351)agA>agG	p.R117R	GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000452134.2_5'UTR	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	117	GRAM.					integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						ACATCTTCAGATGGGAAACTA	0.343																																																0													111	109	110					3																	113594422		2203	4300	6503	SO:0001819	synonymous_variant	54762				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.351A>G	3.37:g.113594422A>G			A8K9Y1|A8KA99|Q6AW94|Q6UWN1|Q8N6S0|Q9UF46	Silent	SNP	ENST00000358160.4	37	CCDS33826.1																																																																																				0.343	GRAMD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354733.1	NM_017577		G	113594422	A	G	113594422	2	3	693	1	0	0	0	0	0	0	0	1	6751	330	12	3		3	GRAMD1C	3	113594422	Silent	SNP	A	TCGA-KL-8324-01A-11D-2310-10	1237380	113594422	84428008	19	38328											
ATR	545	bcgsc.ca	37	3	142180902	142180902	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr3:142180902T>C	ENST00000350721.4	-	42	7193	c.7072A>G	c.(7072-7074)Aga>Gga	p.R2358G	ATR_ENST00000383101.3_Missense_Mutation_p.R2294G	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	2358	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			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						TGAAGTTCTCTTCTACGAGAC	0.308								Other conserved DNA damage response genes																																								0													106	107	107					3																	142180902		2203	4298	6501	SO:0001583	missense	545			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"	601215	"ataxia telangiectasia and Rad3 related"			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.7072A>G	3.37:g.142180902T>C	ENSP00000343741:p.Arg2358Gly		Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	CCDS3124.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.51|18.51	3.640205|3.640205	0.67244|0.67244	.|.	.|.	ENSG00000175054|ENSG00000175054	ENST00000513291|ENST00000350721;ENST00000383101	.|D;D	.|0.90788	.|-2.73;-2.73	5.34|5.34	2.85|2.85	0.33270|0.33270	.|Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.95686|0.95686	0.8597|0.8597	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	D|D	0.95467|0.95467	0.8548|0.8548	5|10	.|0.87932	.|D	.|0	-19.2197|-19.2197	13.3797|13.3797	0.60761|0.60761	0.0:0.0:0.4616:0.5384|0.0:0.0:0.4616:0.5384	.|.	.|2358	.|Q13535	.|ATR_HUMAN	R|G	204|2358;2294	.|ENSP00000343741:R2358G;ENSP00000372581:R2294G	.|ENSP00000343741:R2358G	K|R	-|-	2|1	0|2	ATR|ATR	143663592|143663592	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	1.769000|1.769000	0.38522|0.38522	0.380000|0.380000	0.24823|0.24823	0.533000|0.533000	0.62120|0.62120	AAG|AGA		0.308	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		C	142180902	T	C	142180902	3	2	693	1	0	0	0	0	1	0	0	0	1204	1617	56	3	886	3	ATR	3	142180902	Missense_Mutation	SNP	T	TCGA-KL-8324-01A-11D-2310-10	28586480	142180902	55841528	20	38329											
B3GALNT1	8706	broad.mit.edu	37	3	160804293	160804293	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr3:160804293C>T	ENST00000392781.2	-	8	997	c.250G>A	c.(250-252)Gtg>Atg	p.V84M	B3GALNT1_ENST00000392780.1_Missense_Mutation_p.V84M|B3GALNT1_ENST00000488170.1_Missense_Mutation_p.V84M|B3GALNT1_ENST00000320474.4_Missense_Mutation_p.V84M|B3GALNT1_ENST00000473285.1_Missense_Mutation_p.V84M|B3GALNT1_ENST00000392779.2_Missense_Mutation_p.V84M|B3GALNT1_ENST00000417187.1_Intron	NM_001038628.1	NP_001033717.1	O75752	B3GL1_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)	84					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity (GO:0047273)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)			TGGGAGGTCACCAGAATGACC	0.428																																																0													89	91	90					3																	160804293		2203	4300	6503	SO:0001583	missense	8706			Y15062	CCDS3193.1	3q25	2014-07-18	2006-06-14	2006-05-09	ENSG00000169255	ENSG00000169255	2.4.1.79	"Blood group antigens", "Beta 3-glycosyltransferases"	918	protein-coding gene	gene with protein product	"globoside synthase", "P antigen synthase"	603094	"UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 3 (Globoside blood group)", "UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, polypeptide 1 (Globoside blood group)"	B3GALT3		9582303, 10993897	Standard	XM_005247861		Approved	beta3Gal-T3, galT3, P1, GLOB	uc003fdv.3	O75752	OTTHUMG00000159064	ENST00000392781.2:c.250G>A	3.37:g.160804293C>T	ENSP00000376532:p.Val84Met		D3DNM4|Q3Y531|Q6IAI5|Q8NFM8|Q8NFM9|Q9HA06	Missense_Mutation	SNP	ENST00000392781.2	37	CCDS3193.1	.	.	.	.	.	.	.	.	.	.	C	19.07	3.755841	0.69648	.	.	ENSG00000169255	ENST00000320474;ENST00000392779;ENST00000392780;ENST00000392781;ENST00000473285;ENST00000488170;ENST00000468268	T;T;T;T;T;T;T	0.62498	0.41;0.41;0.41;0.41;0.41;0.41;0.02	5.73	5.73	0.89815	.	0.000000	0.64402	D	0.000012	T	0.68742	0.3034	N	0.24115	0.695	0.41161	D	0.986093	D	0.76494	0.999	D	0.65987	0.94	T	0.72776	-0.4191	10	0.87932	D	0	.	18.8796	0.92351	0.0:1.0:0.0:0.0	.	84	O75752	B3GL1_HUMAN	M	84	ENSP00000323479:V84M;ENSP00000376530:V84M;ENSP00000376531:V84M;ENSP00000376532:V84M;ENSP00000418226:V84M;ENSP00000420163:V84M;ENSP00000419476:V84M	ENSP00000323479:V84M	V	-	1	0	B3GALNT1	162286987	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.252000	0.51461	2.701000	0.92244	0.561000	0.74099	GTG		0.428	B3GALNT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353125.1	NM_033167		T	160804293	C	T	160804293	3	4	693	1	0	0	0	0	1	0	0	0	1245	507	18	2	749	2	B3GALNT1	3	160804293	Missense_Mutation	SNP	C	TCGA-KL-8324-01A-11D-2310-10	18623391	160804293	37218137	21	38330											
MUC20	200958	mdanderson.org	37	3	195453332	195453332	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr3:195453332G>A	ENST00000447234.2	+	2	1984	c.1858G>A	c.(1858-1860)Ggg>Agg	p.G620R	MUC20_ENST00000320736.6_Missense_Mutation_p.G449R|MUC20_ENST00000445522.2_Missense_Mutation_p.G585R|MUC20_ENST00000436408.1_Missense_Mutation_p.G620R	NM_001282506.1	NP_001269435.1	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	620	Involved in oligomerization.|Thr-rich.				activation of MAPK activity (GO:0000187)|cellular protein metabolic process (GO:0044267)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein homooligomerization (GO:0051260)	basal plasma membrane (GO:0009925)|cell projection (GO:0042995)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		CAGCAGCCGAGGGACGAACAG	0.612																																																0																																										SO:0001583	missense	200958			AB037780	CCDS63877.1	3q29	2008-08-07	2006-03-14		ENSG00000176945	ENSG00000176945		"Mucins"	23282	protein-coding gene	gene with protein product		610360				14565953	Standard	NM_001282506		Approved	FLJ14408, KIAA1359	uc010hzo.3	Q8N307	OTTHUMG00000155823	ENST00000447234.2:c.1858G>A	3.37:g.195453332G>A	ENSP00000414350:p.Gly620Arg		Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8	Missense_Mutation	SNP	ENST00000447234.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.15|11.15	1.553505|1.553505	0.27739|0.27739	.|.	.|.	ENSG00000176945|ENSG00000176945	ENST00000381954;ENST00000447234;ENST00000320736;ENST00000436408;ENST00000445522|ENST00000423938	T;T;T;T|T	0.13901|0.21932	2.97;2.98;3.15;2.55|1.98	4.83|4.83	2.02|2.02	0.26589|0.26589	.|.	1.113110|.	0.06939|.	N|.	0.812407|.	T|T	0.10981|0.10981	0.0268|0.0268	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	P|.	0.35844|.	0.524|.	B|.	0.38500|.	0.275|.	T|T	0.37407|0.37407	-0.9707|-0.9707	10|7	0.17369|0.19147	T|T	0.5|0.46	1.6052|1.6052	6.2028|6.2028	0.20585|0.20585	0.3217:0.0:0.6783:0.0|0.3217:0.0:0.6783:0.0	.|.	449|.	E9PH32|.	.|.	R|K	431;620;449;620;585|31	ENSP00000414350:G620R;ENSP00000325431:G449R;ENSP00000396774:G620R;ENSP00000405629:G585R|ENSP00000397774:R31K	ENSP00000325431:G449R|ENSP00000397774:R31K	G|R	+|+	1|2	0|0	MUC20|MUC20	196939003|196939003	0.024000|0.024000	0.19004|0.19004	0.002000|0.002000	0.10522|0.10522	0.002000|0.002000	0.02628|0.02628	1.013000|1.013000	0.29937|0.29937	0.320000|0.320000	0.23234|0.23234	-0.140000|-0.140000	0.14226|0.14226	GGG|AGG		0.612	MUC20-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000341835.1	NM_152673		A	195453332	G	A	195453332	3	1	693	1	0	0	0	0	1	0	0	0	9978	1000	35	2	1355	2	MUC20	3	195453332	Missense_Mutation	SNP	G	TCGA-KL-8324-01A-11D-2310-10	34649039	195453332	2569098	22	38331											
GABRA4	2557	broad.mit.edu;mdanderson.org	37	4	46976325	46976325	+	Silent	SNP	C	C	T			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr4:46976325C>T	ENST00000264318.3	-	6	1627	c.645G>A	c.(643-645)ccG>ccA	p.P215P		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	215					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)	AAGACTCCTTCGGAACTTCAA	0.398																																					Ovarian(6;283 369 8234 12290 33402)											0													118	109	112					4																	46976325		2203	4300	6503	SO:0001819	synonymous_variant	2557				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.645G>A	4.37:g.46976325C>T			Q8IYR7	Silent	SNP	ENST00000264318.3	37	CCDS3473.1																																																																																				0.398	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1			T	46976325	C	T	46976325	2	4	693	1	0	0	0	0	0	0	0	1	6165	871	31	1		1	GABRA4	4	46976325	Silent	SNP	C	TCGA-KL-8324-01A-11D-2310-10		46976325	144177951	23	38332											
PPAT	5471	broad.mit.edu;mdanderson.org	37	4	57265347	57265347	+	Missense_Mutation	SNP	C	C	G			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr4:57265347C>G	ENST00000264220.2	-	9	1371	c.1234G>C	c.(1234-1236)Gag>Cag	p.E412Q	RP11-646I6.6_ENST00000602749.1_lincRNA|PPAT_ENST00000507648.1_5'Flank	NM_002703.4	NP_002694.3	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase	412					'de novo' IMP biosynthetic process (GO:0006189)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|G1/S transition of mitotic cell cycle (GO:0000082)|glutamine catabolic process (GO:0006543)|kidney development (GO:0001822)|lactation (GO:0007595)|maternal process involved in female pregnancy (GO:0060135)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|protein homotetramerization (GO:0051289)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|amidophosphoribosyltransferase activity (GO:0004044)|metal ion binding (GO:0046872)			cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20	Glioma(25;0.08)|all_neural(26;0.101)				Fluorouracil(DB00544)|L-Glutamine(DB00130)|Mercaptopurine(DB01033)	TTACTTACCTCTTTTGCACCA	0.313																																																0													81	85	84					4																	57265347		2202	4300	6502	SO:0001583	missense	5471				CCDS3505.1	4q12	2012-10-02			ENSG00000128059	ENSG00000128059	2.4.2.14		9238	protein-coding gene	gene with protein product		172450					Standard	NM_002703		Approved	GPAT, PRAT	uc003hbr.3	Q06203	OTTHUMG00000128842	ENST00000264220.2:c.1234G>C	4.37:g.57265347C>G	ENSP00000264220:p.Glu412Gln			Missense_Mutation	SNP	ENST00000264220.2	37	CCDS3505.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.740737	0.89573	.	.	ENSG00000128059	ENST00000264220	D	0.99462	-5.94	5.24	5.24	0.73138	Phosphoribosyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.99594	0.9853	M	0.88775	2.98	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.98200	1.0467	10	0.72032	D	0.01	-9.1068	19.1864	0.93645	0.0:1.0:0.0:0.0	.	412	Q06203	PUR1_HUMAN	Q	412	ENSP00000264220:E412Q	ENSP00000264220:E412Q	E	-	1	0	PPAT	56960104	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.776000	0.85560	2.606000	0.88127	0.650000	0.86243	GAG		0.313	PPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250781.2	NM_002703		G	57265347	C	G	57265347	3	3	693	1	0	0	0	0	1	0	0	0	12304	922	32	4	331	4	PPAT	4	57265347	Missense_Mutation	SNP	C	TCGA-KL-8324-01A-11D-2310-10	10289022	57265347	133888929	24	38333											
PRDM8	56978	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	4	81124587	81124587	+	Missense_Mutation	SNP	G	G	C			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr4:81124587G>C	ENST00000504452.1	+	8	2810	c.1971G>C	c.(1969-1971)ttG>ttC	p.L657F	PRDM8_ENST00000339711.4_Missense_Mutation_p.L657F|PRDM8_ENST00000415738.2_Missense_Mutation_p.L657F			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	657					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						TGGAGCCCTTGGTGAAGCGGC	0.567																																																0													33	38	36					4																	81124587		2146	4274	6420	SO:0001583	missense	56978			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.1971G>C	4.37:g.81124587G>C	ENSP00000423985:p.Leu657Phe		A8K7X2|Q6IQ36	Missense_Mutation	SNP	ENST00000504452.1	37	CCDS43243.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.630137	0.46944	.	.	ENSG00000152784	ENST00000504452;ENST00000339711;ENST00000415738	T;T;T	0.68181	-0.31;-0.31;-0.31	4.63	3.79	0.43588	.	0.230621	0.29987	N	0.010690	T	0.69242	0.3089	L	0.40543	1.245	0.47949	D	0.999553	D	0.76494	0.999	D	0.68765	0.96	T	0.66893	-0.5808	10	0.40728	T	0.16	.	6.5614	0.22489	0.1613:0.1487:0.69:0.0	.	657	Q9NQV8	PRDM8_HUMAN	F	657	ENSP00000423985:L657F;ENSP00000339764:L657F;ENSP00000406998:L657F	ENSP00000339764:L657F	L	+	3	2	PRDM8	81343611	0.289000	0.24334	0.991000	0.47740	0.990000	0.78478	0.282000	0.18829	1.157000	0.42530	0.591000	0.81541	TTG		0.567	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362793.1			C	81124587	G	C	81124587	3	2	693	1	0	0	0	0	1	0	0	0	12467	1339	47	4	1981	4	PRDM8	4	81124587	Missense_Mutation	SNP	G	TCGA-KL-8324-01A-11D-2310-10	23859240	81124587	110029689	25	38334											
BBS12	166379	broad.mit.edu	37	4	123663959	123663959	+	Silent	SNP	T	T	C			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr4:123663959T>C	ENST00000314218.3	+	2	1105	c.912T>C	c.(910-912)tgT>tgC	p.C304C	BBS12_ENST00000542236.1_Silent_p.C304C	NM_152618.2	NP_689831.2	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	304					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						AAGGCAACTGTACAAAACCAT	0.408									Bardet-Biedl syndrome																																							0													79	69	72					4																	123663959		2203	4300	6503	SO:0001819	synonymous_variant	166379	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	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.912T>C	4.37:g.123663959T>C			D3DNX5|Q7Z342|Q7Z482|Q8NAB8	Silent	SNP	ENST00000314218.3	37	CCDS3728.1																																																																																				0.408	BBS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256710.1	NM_152618		C	123663959	T	C	123663959	2	2	693	1	0	0	0	0	0	0	0	1	1337	1644	57	3		3	BBS12	4	123663959	Silent	SNP	T	TCGA-KL-8324-01A-11D-2310-10	42539372	123663959	67490317	26	38335											
SORBS2	8470	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	4	186560084	186560084	+	Intron	SNP	G	G	A			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr4:186560084G>A	ENST00000284776.7	-	10	1194				SORBS2_ENST00000498125.1_5'UTR|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000418609.1_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000355634.5_Intron|SORBS2_ENST00000431808.1_Intron|SORBS2_ENST00000319471.9_Missense_Mutation_p.R350W|SORBS2_ENST00000437304.2_Missense_Mutation_p.R443W|SORBS2_ENST00000448662.2_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)		GCGCCACTCCGGGGCGGAGGG	0.647																																					Esophageal Squamous(153;41 2433 9491 36028)											0													18	25	23					4																	186560084		692	1591	2283	SO:0001627	intron_variant	8470				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.684+7737C>T	4.37:g.186560084G>A			A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Missense_Mutation	SNP	ENST00000284776.7	37	CCDS3845.1	.	.	.	.	.	.	.	.	.	.	G	19.60	3.858296	0.71834	.	.	ENSG00000154556	ENST00000437304;ENST00000319471;ENST00000319454	T;T;T	0.37411	1.2;1.22;1.39	4.05	-3.11	0.05299	.	.	.	.	.	T	0.34658	0.0905	L	0.36672	1.1	0.80722	D	1	D;P;D;P	0.63880	0.993;0.894;0.99;0.894	P;B;B;B	0.53490	0.727;0.312;0.336;0.312	T	0.37407	-0.9707	9	0.66056	D	0.02	.	9.0398	0.36311	0.0:0.0982:0.6601:0.2417	.	168;310;443;310	B3KPU4;O94875-4;E9PAW4;O94875-5	.;.;.;.	W	443;350;310	ENSP00000396008:R443W;ENSP00000322182:R350W;ENSP00000321983:R310W	ENSP00000321983:R310W	R	-	1	2	SORBS2	186797078	0.987000	0.35691	0.915000	0.36163	0.979000	0.70002	-0.133000	0.10451	-0.532000	0.06332	0.561000	0.74099	CGG		0.647	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		A	186560084	G	A	186560084	1	1	693	0	1	0	0	0	0	0	0	0	14934	1115	39	1		1	SORBS2	4	186560084	Intron	SNP	G	TCGA-KL-8324-01A-11D-2310-10	62896125	186560084	4594192	27	38336											
FAT1	2195	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	4	187527260	187527260	+	Silent	SNP	G	G	T			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr4:187527260G>T	ENST00000441802.2	-	17	10523	c.10314C>A	c.(10312-10314)ccC>ccA	p.P3438P		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3438	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)	p.P3441P(1)|p.P3438P(1)		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						TGGAGAAGACGGGCGCGTTGT	0.522										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)											2	Substitution - coding silent(2)	endometrium(2)											141	138	139					4																	187527260		1990	4174	6164	SO:0001819	synonymous_variant	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.10314C>A	4.37:g.187527260G>T				Silent	SNP	ENST00000441802.2	37	CCDS47177.1																																																																																				0.522	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		T	187527260	G	T	187527260	2	4	693	1	0	0	0	0	0	0	0	1	5691	1103	39	4		4	FAT1	4	187527260	Silent	SNP	G	TCGA-KL-8324-01A-11D-2310-10	967176	187527260	3627016	28	38337											
PCSK1	5122	broad.mit.edu	37	5	95746664	95746664	+	Silent	SNP	G	G	A	rs376062034		TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr5:95746664G>A	ENST00000311106.3	-	8	1146	c.909C>T	c.(907-909)ttC>ttT	p.F303F	PCSK1_ENST00000508626.1_Silent_p.F256F|PCSK1_ENST00000513085.1_Intron|CTD-2337A12.1_ENST00000502645.2_RNA	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	303	Peptidase S8.				cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	AAGCCCAGACGAAGATGGACC	0.498																																																0													142	136	138					5																	95746664		2203	4300	6503	SO:0001819	synonymous_variant	5122				CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426			8743	protein-coding gene	gene with protein product	"prohormone convertase 3", "prohormone convertase 1", "neuroendocrine convertase 1", "proprotein convertase 1"	162150		NEC1		1765368	Standard	NM_000439		Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.909C>T	5.37:g.95746664G>A			B7Z8T7|E9PHA1|P78478|Q92532	Silent	SNP	ENST00000311106.3	37	CCDS4081.1																																																																																				0.498	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242851.1	NM_000439		A	95746664	G	A	95746664	2	1	693	1	0	0	0	0	0	0	0	1	11602	1049	37	1		1	PCSK1	5	95746664	Silent	SNP	G	TCGA-KL-8324-01A-11D-2310-10		95746664	85168596	29	38338											
FBXL17	64839	broad.mit.edu	37	5	107700539	107700539	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr5:107700539A>G	ENST00000542267.1	-	3	1680	c.1274T>C	c.(1273-1275)cTt>cCt	p.L425P	FBXL17_ENST00000496714.1_Missense_Mutation_p.L27P|FBXL17_ENST00000359660.5_Missense_Mutation_p.L27P	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	425										endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		GGTGTCAGAAAGCTGTTTACA	0.423																																																0													128	124	125					5																	107700539		2202	4299	6501	SO:0001583	missense	64839			AL133602	CCDS54886.1	5q21.3	2011-06-09	2004-06-15	2004-06-16	ENSG00000145743	ENSG00000145743		"F-boxes / Leucine-rich repeats"	13615	protein-coding gene	gene with protein product		609083	"F-box only protein 13"	FBXO13			Standard	NM_001163315		Approved	DKFZP434C1715, Fbx13, Fbl17	uc011cvc.2	Q9UF56	OTTHUMG00000159785	ENST00000542267.1:c.1274T>C	5.37:g.107700539A>G	ENSP00000437464:p.Leu425Pro		A1A4E3	Missense_Mutation	SNP	ENST00000542267.1	37	CCDS54886.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.404130	0.83230	.	.	ENSG00000145743	ENST00000359660;ENST00000542267;ENST00000496714	T;T;T	0.02737	4.18;4.18;4.18	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.14614	0.0353	M	0.71206	2.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.00139	-1.2001	10	0.87932	D	0	.	15.6111	0.76716	1.0:0.0:0.0:0.0	.	425;27	Q9UF56;Q9UF56-2	FXL17_HUMAN;.	P	27;425;27	ENSP00000352683:L27P;ENSP00000437464:L425P;ENSP00000418111:L27P	ENSP00000352683:L27P	L	-	2	0	FBXL17	107728438	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.870000	0.92336	2.136000	0.66102	0.477000	0.44152	CTT		0.423	FBXL17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				G	107700539	A	G	107700539	3	3	693	1	0	0	0	0	1	0	0	0	5715	72	3	3	859	3	FBXL17	5	107700539	Missense_Mutation	SNP	A	TCGA-KL-8324-01A-11D-2310-10	11953875	107700539	73214721	30	38339											
PCDHB9	56126	broad.mit.edu;mdanderson.org	37	5	140569001	140569001	+	5'Flank	SNP	T	T	C			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr5:140569001T>C	ENST00000239446.4	+	0	0					NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10						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)			CTTCCTCCTCTCGGTGCTCCT	0.701																																																0													48	56	53					5																	140569001		2175	4215	6390	SO:0001631	upstream_gene_variant	56127			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		5.37:g.140569001T>C	Exception_encountered		Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	CCDS4252.1																																																																																				0.701	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		C	140569001	T	C	140569001	1	2	693	0	1	0	0	0	0	0	0	0	11551	1538	54	3		3	PCDHB9	5	140569001	5'Flank	SNP	T	TCGA-KL-8324-01A-11D-2310-10	32868462	140569001	40346259	31	38340											
FRK	2444	broad.mit.edu	37	6	116325094	116325094	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr6:116325094C>T	ENST00000606080.1	-	2	858	c.412G>A	c.(412-414)Ggt>Agt	p.G138S	FRK_ENST00000538210.1_5'Flank	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related Src family tyrosine kinase	138	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				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)	p.G138R(1)		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)	AGAAAGGAACCGGTCTTGTTT	0.368																																																1	Substitution - Missense(1)	endometrium(1)											86	81	83					6																	116325094		2203	4300	6503	SO:0001583	missense	2444			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.412G>A	6.37:g.116325094C>T	ENSP00000476145:p.Gly138Ser		B4DY49|Q13128|Q9NTR5	Missense_Mutation	SNP	ENST00000606080.1	37	CCDS5103.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.361640	0.82353	.	.	ENSG00000111816	ENST00000368626	T	0.75704	-0.96	5.97	5.97	0.96955	SH2 motif (5);	0.000000	0.64402	D	0.000005	T	0.81093	0.4751	H	0.97023	3.925	0.80722	D	1	B	0.30114	0.269	B	0.28232	0.087	T	0.83070	-0.0143	10	0.72032	D	0.01	.	19.9934	0.97376	0.0:1.0:0.0:0.0	.	138	P42685	FRK_HUMAN	S	138	ENSP00000357615:G138S	ENSP00000357615:G138S	G	-	1	0	FRK	116431787	1.000000	0.71417	0.969000	0.41365	0.956000	0.61745	6.360000	0.73064	2.825000	0.97269	0.655000	0.94253	GGT		0.368	FRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041924.2	NM_002031		T	116325094	C	T	116325094	3	4	693	1	0	0	0	0	1	0	0	0	6050	652	23	1	1133	1	FRK	6	116325094	Missense_Mutation	SNP	C	TCGA-KL-8324-01A-11D-2310-10		116325094	54789973	32	38341											
SYNE1	23345	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	6	152652931	152652931	+	Missense_Mutation	SNP	C	C	G			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr6:152652931C>G	ENST00000367255.5	-	78	13490	c.12889G>C	c.(12889-12891)Gat>Cat	p.D4297H	SYNE1_ENST00000341594.5_Missense_Mutation_p.D4162H|SYNE1_ENST00000265368.4_Missense_Mutation_p.D4297H|SYNE1_ENST00000423061.1_Missense_Mutation_p.D4226H|SYNE1_ENST00000448038.1_Missense_Mutation_p.D4226H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4297					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)		TGCTTTTGATCTTTCAGATCT	0.398										HNSCC(10;0.0054)																																						0													100	99	99					6																	152652931		2203	4300	6503	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.12889G>C	6.37:g.152652931C>G	ENSP00000356224:p.Asp4297His		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	12.88	2.069699	0.36470	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26	5.66	5.66	0.87406	.	0.414806	0.22380	N	0.060840	T	0.46756	0.1409	M	0.63428	1.95	0.80722	D	1	D;P;P;P	0.59767	0.986;0.668;0.668;0.776	P;P;P;P	0.56434	0.798;0.579;0.579;0.759	T	0.41431	-0.9509	10	0.56958	D	0.05	.	19.7449	0.96248	0.0:1.0:0.0:0.0	.	4297;4297;4297;4226	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	H	4297;4226;4297;4226;4162	ENSP00000356224:D4297H;ENSP00000396024:D4226H;ENSP00000265368:D4297H;ENSP00000390975:D4226H;ENSP00000341887:D4162H	ENSP00000265368:D4297H	D	-	1	0	SYNE1	152694624	1.000000	0.71417	0.981000	0.43875	0.947000	0.59692	3.922000	0.56462	2.677000	0.91161	0.591000	0.81541	GAT		0.398	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		G	152652931	C	G	152652931	3	3	693	1	0	0	0	0	1	0	0	0	15450	913	32	4	13853	4	SYNE1	6	152652931	Missense_Mutation	SNP	C	TCGA-KL-8324-01A-11D-2310-10	36327837	152652931	18462136	33	38342											
WIPF3	644150	mdanderson.org	37	7	29923572	29923572	+	Silent	SNP	T	T	C	rs28439342	byFrequency	TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr7:29923572T>C	ENST00000409290.1	+	4	462	c.462T>C	c.(460-462)aaT>aaC	p.N154N	WIPF3_ENST00000409123.1_Silent_p.N154N|WIPF3_ENST00000242140.5_Silent_p.N154N	NM_001080529.2	NP_001073998.2	A6NGB9	WIPF3_HUMAN	WAS/WASL interacting protein family, member 3	154					cell differentiation (GO:0030154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)				breast(2)|large_intestine(3)|lung(6)|ovary(1)	12						GGCTAGGCAATACCTCCGAGG	0.721													T|||	805	0.160743	0.2859	0.1081	5008	,	,		5568	0.0308		0.1769	False		,,,				2504	0.1462															0								T		655,2473		59,537,968	3	4	4		462	-0.9	0	7	dbSNP_125	4	938,6434		63,812,2811	no	coding-synonymous	WIPF3	NM_001080529.2		122,1349,3779	CC,CT,TT		12.7238,20.9399,15.1714		154/484	29923572	1593,8907	1564	3686	5250	SO:0001819	synonymous_variant	644150			AK094250	CCDS56472.1	7p15.1	2006-10-12			ENSG00000122574	ENSG00000122574			22004	protein-coding gene	gene with protein product		612432					Standard	NM_001080529		Approved	CR16, FLJ36931	uc022aaz.1	A6NGB9	OTTHUMG00000152761	ENST00000409290.1:c.462T>C	7.37:g.29923572T>C			B8ZZV2	Silent	SNP	ENST00000409290.1	37	CCDS56472.1																																																																																				0.721	WIPF3-002	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327705.1			C	29923572	T	C	29923572	2	2	693	1	0	0	0	0	0	0	0	1	17374	1403	49	3		3	WIPF3	7	29923572	Silent	SNP	T	TCGA-KL-8324-01A-11D-2310-10		29923572	129215091	34	38343											
PCLO	27445	broad.mit.edu	37	7	82585926	82585926	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr7:82585926T>C	ENST00000333891.9	-	5	4680	c.4343A>G	c.(4342-4344)gAc>gGc	p.D1448G	PCLO_ENST00000423517.2_Missense_Mutation_p.D1448G	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						TTTCTCTTGGTCTTTAGGCTG	0.363																																																0													116	108	110					7																	82585926		1815	4078	5893	SO:0001583	missense	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.4343A>G	7.37:g.82585926T>C	ENSP00000334319:p.Asp1448Gly			Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	T	8.525	0.869716	0.17322	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.16457	2.34;2.34	5.58	4.42	0.53409	.	.	.	.	.	T	0.16938	0.0407	L	0.42245	1.32	0.80722	D	1	B;B	0.20550	0.011;0.046	B;B	0.22601	0.018;0.04	T	0.02457	-1.1156	9	0.87932	D	0	.	11.5729	0.50845	0.0:0.0701:0.0:0.9299	.	1448;1448	Q9Y6V0-5;Q9Y6V0-6	.;.	G	1379;1448;1448	ENSP00000334319:D1448G;ENSP00000388393:D1448G	ENSP00000334319:D1448G	D	-	2	0	PCLO	82423862	0.998000	0.40836	0.045000	0.18777	0.354000	0.29330	2.943000	0.49026	0.952000	0.37798	0.529000	0.55759	GAC		0.363	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		C	82585926	T	C	82585926	3	2	693	1	0	0	0	0	1	0	0	0	11585	1667	58	3	11186	3	PCLO	7	82585926	Missense_Mutation	SNP	T	TCGA-KL-8324-01A-11D-2310-10	52662354	82585926	76552737	35	38344											
MET	4233	broad.mit.edu	37	7	116411695	116411695	+	Silent	SNP	A	A	G			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr7:116411695A>G	ENST00000318493.6	+	13	3115	c.2928A>G	c.(2926-2928)agA>agG	p.R976R	MET_ENST00000397752.3_Silent_p.R958R			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)			TGAAAAAGAGAAAGCAAATTA	0.358			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																														Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	0													101	96	97					7																	116411695		1853	4093	5946	SO:0001819	synonymous_variant	4233	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	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.2928A>G	7.37:g.116411695A>G			A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Silent	SNP	ENST00000318493.6	37	CCDS47689.1																																																																																				0.358	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			G	116411695	A	G	116411695	2	3	693	1	0	0	0	0	0	0	0	1	9487	243	9	3		3	MET	7	116411695	Silent	SNP	A	TCGA-KL-8324-01A-11D-2310-10	33825769	116411695	42726968	36	38345											
SORBS3	10174	bcgsc.ca	37	8	22426778	22426778	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr8:22426778T>C	ENST00000240123.7	+	17	1806	c.1423T>C	c.(1423-1425)Ttc>Ctc	p.F475L	SORBS3_ENST00000523740.1_3'UTR|SORBS3_ENST00000428103.1_Missense_Mutation_p.F133L|RP11-582J16.3_ENST00000517384.1_RNA	NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3	475	Binds to vinculin.|SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|muscle contraction (GO:0006936)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytoskeleton organization (GO:0051495)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of stress fiber assembly (GO:0051496)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		GGAGCTGTCCTTCCGCAAGGT	0.562																																																0													36	32	34					8																	22426778		2203	4300	6503	SO:0001583	missense	10174				CCDS6031.1	8p21.3	2008-02-05			ENSG00000120896	ENSG00000120896			30907	protein-coding gene	gene with protein product		610795				9885244, 12510380	Standard	NM_001018003		Approved	SCAM-1, SH3D4, vinexin	uc003xbv.3	O60504	OTTHUMG00000131728	ENST00000240123.7:c.1423T>C	8.37:g.22426778T>C	ENSP00000240123:p.Phe475Leu		Q5BJE4|Q6NX54|Q96FY4|Q9UQE4	Missense_Mutation	SNP	ENST00000240123.7	37	CCDS6031.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.86|11.86	1.763286|1.763286	0.31228|0.31228	.|.	.|.	ENSG00000120896|ENSG00000120896	ENST00000240123;ENST00000523900;ENST00000428103;ENST00000518912;ENST00000523965;ENST00000523348|ENST00000521554	T;T;T;T;T;T|.	0.30981|.	1.51;1.51;1.51;1.62;1.51;1.51|.	5.57|5.57	5.57|5.57	0.84162|0.84162	Src homology-3 domain (4);|.	0.133145|.	0.34460|.	N|.	0.003955|.	T|T	0.42154|0.42154	0.1190|0.1190	N|N	0.16037|0.16037	0.36|0.36	0.49582|0.49582	D|D	0.999804|0.999804	P|.	0.38250|.	0.624|.	P|.	0.55161|.	0.77|.	T|T	0.34650|0.34650	-0.9820|-0.9820	10|5	0.25751|.	T|.	0.34|.	-20.2159|-20.2159	13.266|13.266	0.60133|0.60133	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	475|.	O60504|.	VINEX_HUMAN|.	L|P	475;133;133;133;133;86|146	ENSP00000240123:F475L;ENSP00000431128:F133L;ENSP00000408476:F133L;ENSP00000429887:F133L;ENSP00000429764:F133L;ENSP00000428678:F86L|.	ENSP00000240123:F475L|.	F|L	+|+	1|2	0|0	SORBS3|SORBS3	22482723|22482723	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	5.814000|5.814000	0.69208|0.69208	2.117000|2.117000	0.64856|0.64856	0.460000|0.460000	0.39030|0.39030	TTC|CTT		0.562	SORBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254647.3	NM_005775		C	22426778	T	C	22426778	3	2	693	1	0	0	0	0	1	0	0	0	14935	1609	56	3	1485	3	SORBS3	8	22426778	Missense_Mutation	SNP	T	TCGA-KL-8324-01A-11D-2310-10		22426778	123937244	37	38346											
KCNS2	3788	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	8	99440360	99440360	+	Silent	SNP	G	G	A			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr8:99440360G>A	ENST00000287042.4	+	2	503	c.153G>A	c.(151-153)tcG>tcA	p.S51S	KCNS2_ENST00000521839.1_Silent_p.S51S	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	51					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)			TCTGCCACTCGCGCGAGGCCA	0.632																																					Pancreas(138;844 2489 9202 24627)											0													68	60	63					8																	99440360		2203	4300	6503	SO:0001819	synonymous_variant	3788			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.153G>A	8.37:g.99440360G>A			A8KAN1	Silent	SNP	ENST00000287042.4	37	CCDS6279.1																																																																																				0.632	KCNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103134.1	NM_020697		A	99440360	G	A	99440360	2	1	693	1	0	0	0	0	0	0	0	1	8091	1074	38	1		1	KCNS2	8	99440360	Silent	SNP	G	TCGA-KL-8324-01A-11D-2310-10	77013582	99440360	46923662	38	38347											
OXR1	55074	broad.mit.edu	37	8	107715150	107715150	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr8:107715150T>C	ENST00000442977.2	+	7	794	c.695T>C	c.(694-696)gTg>gCg	p.V232A	OXR1_ENST00000517566.2_Missense_Mutation_p.V231A|OXR1_ENST00000445937.1_Missense_Mutation_p.V231A|OXR1_ENST00000497705.1_Missense_Mutation_p.V164A|OXR1_ENST00000531443.1_Missense_Mutation_p.V231A|OXR1_ENST00000452423.2_5'UTR|OXR1_ENST00000312046.6_Missense_Mutation_p.V224A	NM_001198532.1	NP_001185461.1	Q8N573	OXR1_HUMAN	oxidation resistance 1	232	GRAM.				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)			GTCAGTGGTGTGCTGCTAGTT	0.348																																																0													88	85	86					8																	107715150		2203	4300	6503	SO:0001583	missense	55074			AF309387	CCDS6304.2, CCDS47909.1, CCDS56547.1, CCDS56548.1, CCDS56549.1, CCDS56550.1	8q23	2013-03-14			ENSG00000164830	ENSG00000164830			15822	protein-coding gene	gene with protein product	"TBC/LysM-associated domain containing 3"	605609				11114193	Standard	NM_181354		Approved	TLDC3	uc011lht.2	Q8N573	OTTHUMG00000167682	ENST00000442977.2:c.695T>C	8.37:g.107715150T>C	ENSP00000405424:p.Val232Ala		A6NK11|A8KA34|B3KXL1|B7Z402|B7Z8N5|D3HIS6|Q3LIB5|Q6ZVK9|Q8N8V0|Q9H266|Q9NWC7	Missense_Mutation	SNP	ENST00000442977.2	37	CCDS56548.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.3|25.3	4.626540|4.626540	0.87560|0.87560	.|.	.|.	ENSG00000164830|ENSG00000164830	ENST00000517455|ENST00000445937;ENST00000531443;ENST00000517566;ENST00000442977;ENST00000497705;ENST00000312046	.|T;T;T;T;T;T	.|0.34275	.|2.24;2.24;2.23;2.22;1.37;2.25	5.27|5.27	5.27|5.27	0.74061|0.74061	.|GRAM (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.59715|0.59715	0.2214|0.2214	M|M	0.71036|0.71036	2.16|2.16	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	.|0.998;0.999;0.998;0.998	T|T	0.62397|0.62397	-0.6863|-0.6863	5|10	.|0.54805	.|T	.|0.06	-26.8986|-26.8986	15.4811|15.4811	0.75528|0.75528	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|224;232;164;231	.|Q8N573-2;Q8N573;Q8N573-3;Q8N573-5	.|.;OXR1_HUMAN;.;.	R|A	148|231;231;231;232;164;224	.|ENSP00000402918:V231A;ENSP00000431966:V231A;ENSP00000429205:V231A;ENSP00000405424:V232A;ENSP00000431014:V164A;ENSP00000311026:V224A	.|ENSP00000311026:V224A	C|V	+|+	1|2	0|0	OXR1|OXR1	107784326|107784326	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.945000|7.945000	0.87732|0.87732	2.116000|2.116000	0.64780|0.64780	0.528000|0.528000	0.53228|0.53228	TGC|GTG		0.348	OXR1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_181354		C	107715150	T	C	107715150	3	2	693	1	0	0	0	0	1	0	0	0	11336	1696	59	3	921	3	OXR1	8	107715150	Missense_Mutation	SNP	T	TCGA-KL-8324-01A-11D-2310-10	8274790	107715150	38648872	39	38348											
ST3GAL1	6482	broad.mit.edu;mdanderson.org;bcgsc.ca	37	8	134474162	134474162	+	Missense_Mutation	SNP	T	T	G			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr8:134474162T>G	ENST00000319914.5	-	8	1832	c.805A>C	c.(805-807)Acc>Ccc	p.T269P	ST3GAL1_ENST00000399640.2_Missense_Mutation_p.T269P|ST3GAL1_ENST00000521180.1_Missense_Mutation_p.T269P|ST3GAL1_ENST00000522652.1_Missense_Mutation_p.T269P			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	269					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)			AGGATGCCGGTAGATGGGTAT	0.587																																																0													171	140	151					8																	134474162		2203	4300	6503	SO:0001583	missense	6482			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.805A>C	8.37:g.134474162T>G	ENSP00000318445:p.Thr269Pro		O60677|Q9UN51	Missense_Mutation	SNP	ENST00000319914.5	37	CCDS6373.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.709084	0.89018	.	.	ENSG00000008513	ENST00000319914;ENST00000399640;ENST00000521180;ENST00000522652	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.74764	0.3759	H	0.96430	3.82	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.83404	0.0024	10	0.72032	D	0.01	-5.3127	14.1925	0.65646	0.0:0.0:0.0:1.0	.	269	Q11201	SIA4A_HUMAN	P	269	ENSP00000318445:T269P;ENSP00000414073:T269P;ENSP00000428540:T269P;ENSP00000430515:T269P	ENSP00000318445:T269P	T	-	1	0	ST3GAL1	134543344	1.000000	0.71417	0.995000	0.50966	0.856000	0.48823	7.996000	0.88334	2.018000	0.59344	0.533000	0.62120	ACC		0.587	ST3GAL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379132.1	NM_003033		G	134474162	T	G	134474162	3	3	693	1	0	0	0	0	1	0	0	0	15219	1638	57	5	225	5	ST3GAL1	8	134474162	Missense_Mutation	SNP	T	TCGA-KL-8324-01A-11D-2310-10	26759012	134474162	11889860	40	38349											
CYP11B1	1584	mdanderson.org	37	8	143957129	143957129	+	Splice_Site	SNP	G	G	T	rs61752786	byFrequency	TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr8:143957129G>T	ENST00000292427.4	-	6	1152	c.1120C>A	c.(1120-1122)Cgg>Agg	p.R374R	CYP11B1_ENST00000517471.1_Splice_Site_p.R374R|CYP11B1_ENST00000377675.3_Splice_Site_p.R445R	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	374			R -> Q (in AH4).		aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	AGCACCCACCGCAAGGTCTCC	0.672									Familial Hyperaldosteronism type I																																							0								T	,	13,4393		0,13,2190	43	45	45		1120,1120	1.7	1	8	dbSNP_129	45	216,8384		3,210,4087	no	coding-synonymous-near-splice,coding-synonymous-near-splice	CYP11B1	NM_000497.3,NM_001026213.1	,	3,223,6277	TT,TG,GG		2.5116,0.2951,1.7607	,	374/504,374/438	143957129	229,12777	2203	4300	6503	SO:0001630	splice_region_variant	1584	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"Cytochrome P450s"	2591	protein-coding gene	gene with protein product	"steroid 11-beta-monooxygenase"	610613	"cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.1121+1C>A	8.37:g.143957129G>T			Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Silent	SNP	ENST00000292427.4	37	CCDS6392.1																																																																																				0.672	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2		Silent	T	143957129	G	T	143957129	5	4	693	1	0	0	0	0	0	0	1	0	4147	1101	38	4	407	4	CYP11B1	8	143957129	Splice_Site	SNP	G	TCGA-KL-8324-01A-11D-2310-10	9482967	143957129	2406893	41	38350			1	66		2	2	23	N	G_A	7.603876e-05
CYP11B1	1584	mdanderson.org	37	8	143957151	143957151	+	Silent	SNP	A	A	C	rs61752769	byFrequency	TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr8:143957151A>C	ENST00000292427.4	-	6	1130	c.1098T>G	c.(1096-1098)cgT>cgG	p.R366R	CYP11B1_ENST00000517471.1_Silent_p.R366R|CYP11B1_ENST00000377675.3_Silent_p.R437R	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	366					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	TGAGGGCCGCACGCAGCAAGG	0.692									Familial Hyperaldosteronism type I				.|||	96	0.0191693	0.0613	0.0043	5008	,	,		16429	0.002		0.002	False		,,,				2504	0.0082															0													63	65	64					8																	143957151		2203	4300	6503	SO:0001819	synonymous_variant	1584	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"Cytochrome P450s"	2591	protein-coding gene	gene with protein product	"steroid 11-beta-monooxygenase"	610613	"cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.1098T>G	8.37:g.143957151A>C			Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Silent	SNP	ENST00000292427.4	37	CCDS6392.1																																																																																				0.692	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			C	143957151	A	C	143957151	2	2	693	1	0	0	0	0	0	0	0	1	4147	146	6	5		5	CYP11B1	8	143957151	Silent	SNP	A	TCGA-KL-8324-01A-11D-2310-10	22	143957151	2406871	42	38351			1	66		2	2	23	N	G_A	7.603876e-05
ANKRD20A1	84210	mdanderson.org	37	9	67938655	67938655	+	Missense_Mutation	SNP	T	T	C	rs199656293	byFrequency	TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr9:67938655T>C	ENST00000377477.2	+	6	902	c.790T>C	c.(790-792)Tca>Cca	p.S264P	RNU6-368P_ENST00000391117.1_RNA	NM_032250.3	NP_115626.2	Q5TYW2	A20A1_HUMAN	ankyrin repeat domain 20 family, member A1	264						plasma membrane (GO:0005886)				kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	11						AAAGGAGAAATCAGGTAAGAC	0.264																																																0													10	13	12					9																	67938655		1494	3078	4572	SO:0001583	missense	441425			AL136793	CCDS6620.1	9p12	2014-04-16	2005-08-23	2005-08-23	ENSG00000196774	ENSG00000260691		"Ankyrin repeat domain containing"	23665	protein-coding gene	gene with protein product			"ankyrin repeat domain 20A"	ANKRD20A			Standard	NM_032250		Approved	DKFZp434A171		Q5TYW2	OTTHUMG00000188594	ENST00000377477.2:c.790T>C	9.37:g.67938655T>C	ENSP00000366697:p.Ser264Pro		Q9H0H6	Missense_Mutation	SNP	ENST00000377477.2	37	CCDS6620.1	.	.	.	.	.	.	.	.	.	.	.	3.407	-0.121042	0.06838	.	.	ENSG00000196774	ENST00000377477	T	0.37752	1.18	1.32	-1.45	0.08828	Ankyrin repeat-containing domain (1);	.	.	.	.	T	0.15089	0.0364	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.21211	-1.0252	9	0.29301	T	0.29	.	4.2684	0.10775	0.0:0.4658:0.0:0.5342	.	264	Q5TYW2	A20A1_HUMAN	P	264	ENSP00000366697:S264P	ENSP00000366697:S264P	S	+	1	0	ANKRD20A1	67528475	0.006000	0.16342	0.078000	0.20375	0.171000	0.22731	-0.450000	0.06803	-0.404000	0.07610	0.055000	0.15244	TCA		0.264	ANKRD20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083800.1			C	67938655	T	C	67938655	3	2	693	1	0	0	0	0	1	0	0	0	648	1435	50	3	812	3	ANKRD20A1	9	67938655	Missense_Mutation	SNP	T	TCGA-KL-8324-01A-11D-2310-10		67938655	73274776	43	38352											
SETX	23064	broad.mit.edu;mdanderson.org	37	9	135203956	135203956	+	Missense_Mutation	SNP	C	C	T	rs370781594		TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr9:135203956C>T	ENST00000224140.5	-	10	3211	c.3029G>A	c.(3028-3030)cGt>cAt	p.R1010H	SETX_ENST00000372169.2_Missense_Mutation_p.R1010H|SETX_ENST00000393220.1_Missense_Mutation_p.R1010H	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	1010					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)		AACCTGTCCACGGGAGGTATC	0.388																																																0								C	HIS/ARG	0,4406		0,0,2203	103	105	104		3029	-3.9	0	9		104	2,8598	2.2+/-6.3	0,2,4298	no	missense	SETX	NM_015046.5	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	1010/2678	135203956	2,13004	2203	4300	6503	SO:0001583	missense	23064			AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"amyotrophic lateral sclerosis 4", "spinocerebellar ataxia, recessive, non-Friedreich type 1"	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.3029G>A	9.37:g.135203956C>T	ENSP00000224140:p.Arg1010His		A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	C	2.490	-0.317689	0.05386	0.0	2.33E-4	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	D;D;D	0.86497	-2.04;-2.13;-1.74	5.31	-3.86	0.04230	.	9.273830	0.00166	N	0.000000	T	0.70806	0.3266	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.04013	0.001;0.0;0.001	T	0.62148	-0.6915	10	0.15066	T	0.55	.	5.3226	0.15889	0.2176:0.3268:0.0:0.4556	.	1010;1010;1010	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	H	1010	ENSP00000224140:R1010H;ENSP00000361242:R1010H;ENSP00000376913:R1010H	ENSP00000224140:R1010H	R	-	2	0	SETX	134193777	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-1.513000	0.02256	-0.781000	0.04548	-0.768000	0.03414	CGT		0.388	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		T	135203956	C	T	135203956	3	4	693	1	0	0	0	0	1	0	0	0	14147	536	19	1	5072	1	SETX	9	135203956	Missense_Mutation	SNP	C	TCGA-KL-8324-01A-11D-2310-10	67265301	135203956	6009475	44	38353											
KIF5B	3799	broad.mit.edu;mdanderson.org;bcgsc.ca	37	10	32321694	32321694	+	Missense_Mutation	SNP	T	T	A			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr10:32321694T>A	ENST00000302418.4	-	13	1771	c.1314A>T	c.(1312-1314)gaA>gaT	p.E438D		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	438					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|cytoplasm organization (GO:0007028)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane potential (GO:0042391)|stress granule disassembly (GO:0035617)|vesicle transport along microtubule (GO:0047496)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				GCTGGTTAATTTCTTCATCCT	0.393			T	"RET, ALK"	NSCLC																																		Dom	yes		10	10p11.22	3799	kinesin family member 5B		E	0													179	160	166					10																	32321694		2203	4300	6503	SO:0001583	missense	3799			X65873	CCDS7171.1	10p11.22	2007-02-13			ENSG00000170759	ENSG00000170759		"Kinesins"	6324	protein-coding gene	gene with protein product		602809		KNS1		1607388	Standard	NM_004521		Approved	KNS	uc001iwe.4	P33176	OTTHUMG00000017913	ENST00000302418.4:c.1314A>T	10.37:g.32321694T>A	ENSP00000307078:p.Glu438Asp		A0AVB2|Q5VZ85	Missense_Mutation	SNP	ENST00000302418.4	37	CCDS7171.1	.	.	.	.	.	.	.	.	.	.	T	16.64	3.180248	0.57800	.	.	ENSG00000170759	ENST00000302418	D	0.82526	-1.62	5.47	4.34	0.51931	.	0.000000	0.85682	D	0.000000	T	0.78578	0.4305	L	0.56396	1.775	0.49582	D	0.999803	B	0.32010	0.351	B	0.36418	0.224	T	0.71163	-0.4673	10	0.24483	T	0.36	.	7.9369	0.29935	0.0:0.1602:0.0:0.8398	.	438	P33176	KINH_HUMAN	D	438	ENSP00000307078:E438D	ENSP00000307078:E438D	E	-	3	2	KIF5B	32361700	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	2.426000	0.44731	0.929000	0.37192	0.383000	0.25322	GAA		0.393	KIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047467.1	NM_004521		A	32321694	T	A	32321694	3	1	693	1	0	0	0	0	1	0	0	0	8308	1838	64	5	1629	5	KIF5B	10	32321694	Missense_Mutation	SNP	T	TCGA-KL-8324-01A-11D-2310-10		32321694	103213053	45	38354											
RRP12	23223	broad.mit.edu	37	10	99130534	99130534	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr10:99130534A>G	ENST00000370992.4	-	22	2633	c.2522T>C	c.(2521-2523)cTa>cCa	p.L841P	RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000536831.1_Missense_Mutation_p.L559P|RRP12_ENST00000414986.1_Missense_Mutation_p.L780P|RRP12_ENST00000315563.6_Missense_Mutation_p.L741P	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	841						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)		CACGATGTGTAGGAGGCACTT	0.567																																																0													82	80	81					10																	99130534		2203	4300	6503	SO:0001583	missense	23223				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.2522T>C	10.37:g.99130534A>G	ENSP00000360031:p.Leu841Pro		B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Missense_Mutation	SNP	ENST00000370992.4	37	CCDS7457.1	.	.	.	.	.	.	.	.	.	.	A	12.88	2.070355	0.36566	.	.	ENSG00000052749	ENST00000370992;ENST00000315563;ENST00000414986;ENST00000536831	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	4.83	4.83	0.62350	Armadillo-like helical (1);Armadillo-type fold (1);	0.343967	0.31709	N	0.007181	T	0.46092	0.1375	N	0.08118	0	0.51482	D	0.999924	P;P;P;B	0.44195	0.661;0.496;0.828;0.079	B;B;B;B	0.43783	0.165;0.191;0.431;0.069	T	0.50625	-0.8806	10	0.36615	T	0.2	-8.0646	14.4025	0.67056	1.0:0.0:0.0:0.0	.	780;741;559;841	E9PCK7;Q5JTH9-2;F5H456;Q5JTH9	.;.;.;RRP12_HUMAN	P	841;741;780;559	ENSP00000360031:L841P;ENSP00000324315:L741P;ENSP00000414863:L780P;ENSP00000446184:L559P	ENSP00000324315:L741P	L	-	2	0	RRP12	99120524	1.000000	0.71417	0.974000	0.42286	0.491000	0.33493	4.326000	0.59241	1.801000	0.52704	0.260000	0.18958	CTA		0.567	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4	NM_015179		G	99130534	A	G	99130534	3	3	693	1	0	0	0	0	1	0	0	0	13692	420	15	3	1423	3	RRP12	10	99130534	Missense_Mutation	SNP	A	TCGA-KL-8324-01A-11D-2310-10	66808840	99130534	36404213	46	38355											
MKI67	4288	broad.mit.edu	37	10	129899864	129899864	+	Silent	SNP	T	T	C			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr10:129899864T>C	ENST00000368654.3	-	14	9738	c.9363A>G	c.(9361-9363)gaA>gaG	p.E3121E	MKI67_ENST00000368653.3_Silent_p.E2761E	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	3121					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)				TGGGCTTCTTTTCATTTCTGT	0.433																																																0													111	117	115					10																	129899864		2203	4300	6503	SO:0001819	synonymous_variant	4288			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.9363A>G	10.37:g.129899864T>C			Q5VWH2	Silent	SNP	ENST00000368654.3	37	CCDS7659.1																																																																																				0.433	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		C	129899864	T	C	129899864	2	2	693	1	0	0	0	0	0	0	0	1	9600	1838	64	3		3	MKI67	10	129899864	Silent	SNP	T	TCGA-KL-8324-01A-11D-2310-10	30769330	129899864	5634883	47	38356											
MUC5B	727897	mdanderson.org	37	11	1268402	1268402	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr11:1268402G>A	ENST00000529681.1	+	31	10350	c.10292G>A	c.(10291-10293)aGc>aAc	p.S3431N	MUC5B_ENST00000447027.1_Missense_Mutation_p.S3434N|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3431	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)		p.S3410N(1)		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)		gccaccagcagcacAGTGACT	0.682																																																1	Substitution - Missense(1)	prostate(1)											41	76	64					11																	1268402		2093	4144	6237	SO:0001583	missense	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.10292G>A	11.37:g.1268402G>A	ENSP00000436812:p.Ser3431Asn		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	3.121	-0.180464	0.06380	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637	T;T	0.20598	2.06;2.24	2.38	-2.65	0.06095	.	.	.	.	.	T	0.11965	0.0291	L	0.29908	0.895	0.09310	N	1	B	0.11235	0.004	B	0.01281	0.0	T	0.31888	-0.9927	9	0.87932	D	0	.	2.2793	0.04110	0.1745:0.3567:0.3457:0.1231	.	3434	E9PBJ0	.	N	3431;3434;3403	ENSP00000436812:S3431N;ENSP00000415793:S3434N	ENSP00000343037:S3403N	S	+	2	0	MUC5B	1224978	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.426000	0.02443	-0.630000	0.05567	-0.714000	0.03626	AGC		0.682	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		A	1268402	G	A	1268402	3	1	693	1	0	0	0	0	1	0	0	0	9981	971	34	2	10423	2	MUC5B	11	1268402	Missense_Mutation	SNP	G	TCGA-KL-8324-01A-11D-2310-10		1268402	133738114	48	38357											
OR52D1	390066	broad.mit.edu;mdanderson.org	37	11	5510050	5510050	+	Silent	SNP	T	T	C			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr11:5510050T>C	ENST00000322641.5	+	1	136	c.114T>C	c.(112-114)taT>taC	p.Y38Y	HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	38					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)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGCCATGTATCTTGTAGCAC	0.507																																																0													248	200	216					11																	5510050		2201	4297	6498	SO:0001819	synonymous_variant	390066			BK004276	CCDS31384.1	11p15.4	2012-08-09			ENSG00000181609	ENSG00000181609		"GPCR / Class A : Olfactory receptors"	15212	protein-coding gene	gene with protein product							Standard	NM_001005163		Approved		uc010qzg.2	Q9H346	OTTHUMG00000066895	ENST00000322641.5:c.114T>C	11.37:g.5510050T>C			B9EGY9|Q6IFI6	Silent	SNP	ENST00000322641.5	37	CCDS31384.1																																																																																				0.507	OR52D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143372.1	NM_001005163		C	5510050	T	C	5510050	2	2	693	1	0	0	0	0	0	0	0	1	11116	1442	50	3		3	OR52D1	11	5510050	Silent	SNP	T	TCGA-KL-8324-01A-11D-2310-10	4241648	5510050	129496466	49	38358											
OR56A3	390083	broad.mit.edu	37	11	5969446	5969446	+	Silent	SNP	C	C	A			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr11:5969446C>A	ENST00000329564.6	+	1	877	c.870C>A	c.(868-870)gcC>gcA	p.A290A		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	290						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCCTGCAGCCCTTAACCCCA	0.478																																																0													127	120	123					11																	5969446		2062	4221	6283	SO:0001819	synonymous_variant	390083				CCDS41614.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184478	ENSG00000184478		"GPCR / Class A : Olfactory receptors"	14786	protein-coding gene	gene with protein product				OR56A6, OR56A3P			Standard	NM_001003443		Approved		uc010qzt.2	Q8NH54	OTTHUMG00000165373	ENST00000329564.6:c.870C>A	11.37:g.5969446C>A			A6NN77|Q6IFF7	Silent	SNP	ENST00000329564.6	37	CCDS41614.1																																																																																				0.478	OR56A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383753.1	NM_001003443		A	5969446	C	A	5969446	2	1	693	1	0	0	0	0	0	0	0	1	11136	610	22	4		4	OR56A3	11	5969446	Silent	SNP	C	TCGA-KL-8324-01A-11D-2310-10	459396	5969446	129037070	50	38359											
DNHD1	144132	broad.mit.edu	37	11	6566233	6566234	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr11:6566233_6566234insC	ENST00000527990.2	+	19	4064_4065	c.4064_4065insC	c.(4063-4068)cacttcfs	p.F1356fs	DNHD1_ENST00000254579.6_Frame_Shift_Ins_p.F1356fs			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	1356					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GTGTGTGCTCACTTCCCCCGCC	0.579																																																0																																										SO:0001589	frameshift_variant	144132			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 47", "dynein heavy chain domain 1-like", "coiled-coil domain containing 35"	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.4065dupC	11.37:g.6566234_6566234dupC	ENSP00000436180:p.Phe1356fs		Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Frame_Shift_Ins	INS	ENST00000527990.2	37	CCDS44532.1																																																																																				0.579	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		C	6566234	-	C	6566233	7	5	693	1	0	1	1	0	0	0	0	0	4670	159	6	0	4147	0	DNHD1	11	6566233	Frame_Shift_Ins	INS	-	TCGA-KL-8324-01A-11D-2310-10	596787	6566233	128440283	51	38360											
KCNJ11	3767	broad.mit.edu	37	11	17408682	17408682	+	Silent	SNP	T	T	C			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr11:17408682T>C	ENST00000339994.4	-	1	1524	c.957A>G	c.(955-957)gtA>gtG	p.V319V	KCNJ11_ENST00000526747.1_5'Flank|KCNJ11_ENST00000528731.1_Silent_p.V232V	NM_000525.3	NP_000516.3	Q14654	KCJ11_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 11	319					cellular response to glucose stimulus (GO:0071333)|cellular response to nicotine (GO:0071316)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|negative regulation of insulin secretion (GO:0046676)|neurological system process (GO:0050877)|positive regulation of cation channel activity (GO:2001259)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ischemia (GO:0002931)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	ATP-sensitive potassium channel complex (GO:0008282)|axolemma (GO:0030673)|cell body fiber (GO:0070852)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|mitochondrion (GO:0005739)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|ion channel binding (GO:0044325)|potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)	Diazoxide(DB01119)|Glimepiride(DB00222)|Glyburide(DB01016)|Ibutilide(DB00308)|Levosimendan(DB00922)|Thiamylal(DB01154)|Verapamil(DB00661)|Yohimbine(DB01392)	CCTCCTCAGCTACAATGGGCA	0.612											OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													156	136	143					11																	17408682		2200	4293	6493	SO:0001819	synonymous_variant	3767			D50582	CCDS31436.1, CCDS53606.1	11p15.1	2011-07-05						"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6257	protein-coding gene	gene with protein product		600937				7502040, 16382105	Standard	NM_001166290		Approved	Kir6.2, BIR	uc001mna.3	Q14654		ENST00000339994.4:c.957A>G	11.37:g.17408682T>C		717	B4DWI4|E9PNK0|Q2M1H7|Q58EX3|Q8IW96	Silent	SNP	ENST00000339994.4	37	CCDS31436.1																																																																																				0.612	KCNJ11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387037.1	NM_000525		C	17408682	T	C	17408682	2	2	693	1	0	0	0	0	0	0	0	1	8047	1509	53	3		3	KCNJ11	11	17408682	Silent	SNP	T	TCGA-KL-8324-01A-11D-2310-10	10842449	17408682	117597834	52	38361											
TMEM86A	144110	broad.mit.edu	37	11	18723333	18723334	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr11:18723333_18723334insG	ENST00000280734.2	+	3	596_597	c.500_501insG	c.(499-504)ctggccfs	p.A168fs		NM_153347.1	NP_699178.1	Q8N2M4	TM86A_HUMAN	transmembrane protein 86A	168						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	11						GGGCTGCGGCTGGCCGGGGCAG	0.594																																																0																																										SO:0001589	frameshift_variant	144110			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.502dupG	11.37:g.18723335_18723335dupG	ENSP00000280734:p.Ala168fs		Q96AJ0	Frame_Shift_Ins	INS	ENST00000280734.2	37	CCDS7844.1																																																																																				0.594	TMEM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387812.1	NM_153347		G	18723334	-	G	18723333	7	5	693	1	0	1	1	0	0	0	0	0	16213	1580	55	0	510	0	TMEM86A	11	18723333	Frame_Shift_Ins	INS	-	TCGA-KL-8324-01A-11D-2310-10	1314651	18723333	116283183	53	38362											
MPPED2	744	broad.mit.edu	37	11	30601906	30601906	+	Silent	SNP	A	A	G			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr11:30601906A>G	ENST00000358117.5	-	1	137	c.15T>C	c.(13-15)atT>atC	p.I5I	MPPED2_ENST00000448418.2_Silent_p.I5I	NM_001584.2	NP_001575.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	5					nervous system development (GO:0007399)		hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						CTTGAGAAGGAATCCCATGTG	0.493																																																0													242	193	209					11																	30601906		2202	4299	6501	SO:0001819	synonymous_variant	744			U57911	CCDS7870.1, CCDS44560.1	11p13	2008-07-18	2005-10-10	2005-10-10	ENSG00000066382	ENSG00000066382			1180	protein-coding gene	gene with protein product		600911	"chromosome 11 open reading frame 8"	C11orf8		8666403, 9266672	Standard	NM_001584		Approved	239FB, D11S302E, Hs.46638, FAM1B, dJ873F21.1, dJ1024C24.1	uc001msr.3	Q15777	OTTHUMG00000166159	ENST00000358117.5:c.15T>C	11.37:g.30601906A>G			D3DQZ5|E9PB10|Q59GE6	Silent	SNP	ENST00000358117.5	37	CCDS7870.1																																																																																				0.493	MPPED2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388155.2	NM_001584		G	30601906	A	G	30601906	2	3	693	1	0	0	0	0	0	0	0	1	9744	242	9	3		3	MPPED2	11	30601906	Silent	SNP	A	TCGA-KL-8324-01A-11D-2310-10	11878573	30601906	104404610	54	38363											
OR4A5	81318	mdanderson.org	37	11	51412043	51412043	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr11:51412043C>T	ENST00000319760.6	-	1	405	c.353G>A	c.(352-354)tGt>tAt	p.C118Y		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	118						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)				ATAGCGATCACAGGCCATCAC	0.468																																																0													71	68	69					11																	51412043		2201	4296	6497	SO:0001583	missense	81318			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.353G>A	11.37:g.51412043C>T	ENSP00000367664:p.Cys118Tyr		Q6IF84	Missense_Mutation	SNP	ENST00000319760.6	37	CCDS31497.1	.	.	.	.	.	.	.	.	.	.	.	0.001	-3.423436	0.00013	.	.	ENSG00000221840	ENST00000319760	T	0.02944	4.1	1.93	-0.94	0.10405	GPCR, rhodopsin-like superfamily (1);	0.337598	0.21438	N	0.074538	T	0.00384	0.0012	N	0.00009	-3.08	0.23107	N	0.998289	B	0.02656	0.0	B	0.01281	0.0	T	0.45804	-0.9236	10	0.02654	T	1	.	5.5659	0.17170	0.0:0.3083:0.0:0.6917	.	118	Q8NH83	OR4A5_HUMAN	Y	118	ENSP00000367664:C118Y	ENSP00000367664:C118Y	C	-	2	0	OR4A5	51268619	0.534000	0.26362	0.997000	0.53966	0.143000	0.21401	0.263000	0.18478	-0.164000	0.10927	-1.252000	0.01501	TGT		0.468	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1	NM_001005272		T	51412043	C	T	51412043	3	4	693	1	0	0	0	0	1	0	0	0	11045	478	17	2	598	2	OR4A5	11	51412043	Missense_Mutation	SNP	C	TCGA-KL-8324-01A-11D-2310-10	20810137	51412043	83594473	55	38364											
OR5M8	219484	mdanderson.org	37	11	56258310	56258310	+	Silent	SNP	C	C	T	rs150358569	byFrequency	TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr11:56258310C>T	ENST00000327216.2	-	1	561	c.537G>A	c.(535-537)gcG>gcA	p.A179A		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	179						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)					GTGGTGGGTCCGCACAGTAGA	0.473													C|||	2	0.000399361	0.0	0.0	5008	,	,		18449	0.0		0.002	False		,,,				2504	0.0															0													93	92	93					11																	56258310		2201	4296	6497	SO:0001819	synonymous_variant	219484			AB065744	CCDS31533.1	11q11	2012-08-09			ENSG00000181371	ENSG00000181371		"GPCR / Class A : Olfactory receptors"	14846	protein-coding gene	gene with protein product							Standard	NM_001005282		Approved		uc001nix.1	Q8NGP6	OTTHUMG00000166877	ENST00000327216.2:c.537G>A	11.37:g.56258310C>T			B2RNM5|Q6IEW3|Q96RB8	Silent	SNP	ENST00000327216.2	37	CCDS31533.1																																																																																				0.473	OR5M8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391641.1	NM_001005282		T	56258310	C	T	56258310	2	4	693	1	0	0	0	0	0	0	0	1	11178	639	23	1		1	OR5M8	11	56258310	Silent	SNP	C	TCGA-KL-8324-01A-11D-2310-10	4846267	56258310	78748206	56	38365											
EHBP1L1	254102	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	11	65350193	65350193	+	Missense_Mutation	SNP	G	G	T			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr11:65350193G>T	ENST00000309295.4	+	9	2315	c.2050G>T	c.(2050-2052)Gat>Tat	p.D684Y		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	684	Glu-rich.					membrane (GO:0016020)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GATATCTGGGGATTTAGGGCC	0.507																																																0													58	60	59					11																	65350193		1891	4131	6022	SO:0001583	missense	254102			AL834433	CCDS44649.1	11q13.1	2008-02-05			ENSG00000173442	ENSG00000173442			30682	protein-coding gene	gene with protein product							Standard	NM_001099409		Approved	DKFZp762C186, TANGERIN	uc001oeo.4	Q8N3D4	OTTHUMG00000166520	ENST00000309295.4:c.2050G>T	11.37:g.65350193G>T	ENSP00000312671:p.Asp684Tyr		Q8TB89|Q9H7M7	Missense_Mutation	SNP	ENST00000309295.4	37	CCDS44649.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.383414	0.42207	.	.	ENSG00000173442	ENST00000309295	T	0.65916	-0.18	4.77	2.88	0.33553	.	0.436525	0.17052	N	0.188887	T	0.40423	0.1116	N	0.19112	0.55	0.09310	N	0.999999	P	0.51653	0.947	B	0.37601	0.254	T	0.24548	-1.0157	10	0.54805	T	0.06	.	7.5216	0.27631	0.0894:0.0:0.7458:0.1648	.	684	Q8N3D4	EH1L1_HUMAN	Y	684	ENSP00000312671:D684Y	ENSP00000312671:D684Y	D	+	1	0	EHBP1L1	65106769	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.315000	0.19451	0.436000	0.26393	0.655000	0.94253	GAT		0.507	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390145.1	XM_170658		T	65350193	G	T	65350193	3	4	693	1	0	0	0	0	1	0	0	0	4978	1174	41	4	2084	4	EHBP1L1	11	65350193	Missense_Mutation	SNP	G	TCGA-KL-8324-01A-11D-2310-10	9091883	65350193	69656323	57	38366											
FAM86C	55199	mdanderson.org	37	11	71507083	71507083	+	Silent	SNP	G	G	A			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr11:71507083G>A	ENST00000359244.4	+	4	305	c.282G>A	c.(280-282)aaG>aaA	p.K94K	FAM86C1_ENST00000346333.6_Silent_p.K60K|FAM86C1_ENST00000426628.2_Silent_p.K87K	NM_018172.2	NP_060642.2	Q9NVL1	FA86C_HUMAN	family with sequence similarity 86, member C1	94										lung(1)	1						TTGCCCAGAAGCCATCGTGTC	0.612																																																0													44	48	46					11																	71507083		2199	4288	6487	SO:0001819	synonymous_variant	55199			AK130709	CCDS8202.1, CCDS41686.1, CCDS44664.1	11q13.4	2011-07-07	2011-07-07	2011-07-07	ENSG00000158483	ENSG00000158483			25561	protein-coding gene	gene with protein product			"family with sequence similarity 86, member C"	FAM86C		12477932	Standard	NM_152563		Approved	FLJ10661, FLJ27199	uc001oqv.4	Q9NVL1	OTTHUMG00000160552	ENST00000359244.4:c.282G>A	11.37:g.71507083G>A			Q8N5D3	Silent	SNP	ENST00000359244.4	37	CCDS41686.1																																																																																				0.612	FAM86C1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361120.1	NM_152563		A	71507083	G	A	71507083	2	1	693	1	0	0	0	0	0	0	0	1	5648	962	34	2		2	FAM86C	11	71507083	Silent	SNP	G	TCGA-KL-8324-01A-11D-2310-10	6156890	71507083	63499433	58	38367											
CLPB	81570	hgsc.bcm.edu;bcgsc.ca	37	11	72028203	72028203	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr11:72028203C>T	ENST00000294053.3	-	8	1198	c.1025G>A	c.(1024-1026)cGa>cAa	p.R342Q	CLPB_ENST00000543042.1_Missense_Mutation_p.R141Q|CLPB_ENST00000538039.1_Missense_Mutation_p.R312Q|CLPB_ENST00000437826.2_Missense_Mutation_p.R297Q|CLPB_ENST00000340729.5_Missense_Mutation_p.R283Q	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	342					cellular response to heat (GO:0034605)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						CTCCTTTAGTCGCTGCTCCAG	0.632																																																0													110	94	99					11																	72028203		2200	4293	6493	SO:0001583	missense	81570			BC006404	CCDS8215.1, CCDS58152.1, CCDS58153.1, CCDS58154.1	11q13.4	2013-01-10			ENSG00000162129	ENSG00000162129		"Ankyrin repeat domain containing"	30664	protein-coding gene	gene with protein product	"suppressor of potassium transport defect 3"					11230166, 7835694	Standard	NM_030813		Approved	HSP78, SKD3, FLJ13152	uc010rqy.3	Q9H078	OTTHUMG00000167902	ENST00000294053.3:c.1025G>A	11.37:g.72028203C>T	ENSP00000294053:p.Arg342Gln		B4DXJ7|B4DXP7|E7EWN6|F8W7P6|Q8ND11|Q9H8Y0	Missense_Mutation	SNP	ENST00000294053.3	37	CCDS8215.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.859350|5.859350	0.97036|0.97036	.|.	.|.	ENSG00000162129|ENSG00000162129	ENST00000544382|ENST00000294053;ENST00000538039;ENST00000535990;ENST00000340729;ENST00000437826;ENST00000543042	.|T;T;T;T;T;T	.|0.30182	.|1.54;1.54;1.54;1.54;1.54;1.54	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.59197|0.59197	0.2176|0.2176	M|M	0.78049|0.78049	2.395|2.395	0.52099|0.52099	D|D	0.999947|0.999947	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.85130	.|0.974;0.995;0.946;0.976;0.997	T|T	0.59742|0.59742	-0.7397|-0.7397	5|10	.|0.54805	.|T	.|0.06	-13.1716|-13.1716	18.4028|18.4028	0.90522|0.90522	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|141;283;297;312;342	.|B4DXW4;F8W7P6;E7EWN6;Q9H078-2;Q9H078	.|.;.;.;.;CLPB_HUMAN	N|Q	120|342;312;347;283;297;141	.|ENSP00000294053:R342Q;ENSP00000441518:R312Q;ENSP00000443822:R347Q;ENSP00000340385:R283Q;ENSP00000407296:R297Q;ENSP00000439746:R141Q	.|ENSP00000294053:R342Q	D|R	-|-	1|2	0|0	CLPB|CLPB	71705851|71705851	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	6.903000|6.903000	0.75703|0.75703	2.696000|2.696000	0.92011|0.92011	0.655000|0.655000	0.94253|0.94253	GAC|CGA		0.632	CLPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396889.1	NM_030813		T	72028203	C	T	72028203	3	4	693	1	0	0	0	0	1	0	0	0	3553	884	31	1	1138	1	CLPB	11	72028203	Missense_Mutation	SNP	C	TCGA-KL-8324-01A-11D-2310-10	521120	72028203	62978313	59	38368											
ATM	472	broad.mit.edu	37	11	108216609	108216609	+	Missense_Mutation	SNP	C	C	T	rs141534716		TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr11:108216609C>T	ENST00000452508.2	+	59	8747	c.8558C>T	c.(8557-8559)aCg>aTg	p.T2853M	C11orf65_ENST00000526725.1_Intron|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.T2853M			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2853	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				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)	p.T2853M(2)|p.Y2852fs*4(1)		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)	TTGGCTTATACGCGCAGTGTA	0.368			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	3	Substitution - Missense(2)|Deletion - Frameshift(1)	endometrium(2)|prostate(1)						C	MET/THR	1,4401	2.1+/-5.4	0,1,2200	141	144	143		8558	5.5	1	11	dbSNP_134	143	1,8595	1.2+/-3.3	0,1,4297	yes	missense	ATM	NM_000051.3	81	0,2,6497	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	2853/3057	108216609	2,12996	2201	4298	6499	SO:0001583	missense	472	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.8558C>T	11.37:g.108216609C>T	ENSP00000388058:p.Thr2853Met		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	C	31	5.069148	0.93950	2.27E-4	1.16E-4	ENSG00000149311	ENST00000278616;ENST00000452508	D;D	0.82433	-1.61;-1.61	5.54	5.54	0.83059	Protein kinase-like domain (1);Armadillo-type fold (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	D	0.92642	0.7662	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93456	0.6806	10	0.87932	D	0	.	19.4688	0.94954	0.0:1.0:0.0:0.0	.	2853	Q13315	ATM_HUMAN	M	2853	ENSP00000278616:T2853M;ENSP00000388058:T2853M	ENSP00000278616:T2853M	T	+	2	0	ATM	107721819	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.802000	0.85969	2.594000	0.87642	0.650000	0.86243	ACG		0.368	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		T	108216609	C	T	108216609	3	4	693	1	0	0	0	0	1	0	0	0	1109	536	19	1	8784	1	ATM	11	108216609	Missense_Mutation	SNP	C	TCGA-KL-8324-01A-11D-2310-10	36188406	108216609	26789907	60	38369											
OR8D4	338662	broad.mit.edu;mdanderson.org;bcgsc.ca	37	11	123777314	123777314	+	Missense_Mutation	SNP	T	T	A			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr11:123777314T>A	ENST00000321355.2	+	1	206	c.176T>A	c.(175-177)aTg>aAg	p.M59K		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	59						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M59T(1)		large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		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;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		CATACCCCCATGTACTATTTC	0.398																																																1	Substitution - Missense(1)	lung(1)											246	235	239					11																	123777314		2202	4299	6501	SO:0001583	missense	338662			AB065761	CCDS31698.1	11q24.1	2012-08-09			ENSG00000181518	ENSG00000181518		"GPCR / Class A : Olfactory receptors"	14840	protein-coding gene	gene with protein product							Standard	NM_001005197		Approved		uc010saa.2	Q8NGM9	OTTHUMG00000165960	ENST00000321355.2:c.176T>A	11.37:g.123777314T>A	ENSP00000325381:p.Met59Lys		Q6IFE9	Missense_Mutation	SNP	ENST00000321355.2	37	CCDS31698.1	.	.	.	.	.	.	.	.	.	.	T	13.42	2.233122	0.39498	.	.	ENSG00000181518	ENST00000321355	T	0.09911	2.93	5.67	5.67	0.87782	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000019	T	0.48077	0.1480	H	0.97682	4.055	0.44098	D	0.996865	D	0.76494	0.999	D	0.69479	0.964	T	0.67280	-0.5710	10	0.87932	D	0	.	14.8892	0.70594	0.0:0.0:0.0:1.0	.	59	Q8NGM9	OR8D4_HUMAN	K	59	ENSP00000325381:M59K	ENSP00000325381:M59K	M	+	2	0	OR8D4	123282524	1.000000	0.71417	1.000000	0.80357	0.053000	0.15095	4.803000	0.62546	2.143000	0.66587	0.533000	0.62120	ATG		0.398	OR8D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387262.1	NM_001005197		A	123777314	T	A	123777314	3	1	693	1	0	0	0	0	1	0	0	0	11235	1464	51	5	178	5	OR8D4	11	123777314	Missense_Mutation	SNP	T	TCGA-KL-8324-01A-11D-2310-10	15560705	123777314	11229202	61	38370											
VWA5A	4013	broad.mit.edu	37	11	124005629	124005629	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr11:124005629G>A	ENST00000456829.2	+	12	1498	c.1247G>A	c.(1246-1248)tGt>tAt	p.C416Y	VWA5A_ENST00000392748.1_Missense_Mutation_p.C416Y|VWA5A_ENST00000360334.4_Intron	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	416	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.									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						AATTGCAGGTGTTTCTCATTT	0.408																																																0													60	59	59					11																	124005629		2201	4299	6500	SO:0001583	missense	4013			AF002672	CCDS8444.1, CCDS8445.1	11q24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000110002	ENSG00000110002			6658	protein-coding gene	gene with protein product		602929	"loss of heterozygosity, 11, chromosomal region 2, gene A"	LOH11CR2A		9417908, 14504409	Standard	NM_001130142		Approved	BCSC-1	uc001pzt.3	O00534	OTTHUMG00000165971	ENST00000456829.2:c.1247G>A	11.37:g.124005629G>A	ENSP00000407726:p.Cys416Tyr		Q6UN19|Q6UN20|Q9BVF8	Missense_Mutation	SNP	ENST00000456829.2	37	CCDS8444.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.637952	0.67130	.	.	ENSG00000110002	ENST00000456829;ENST00000392748	T;T	0.08546	3.08;3.08	5.86	5.86	0.93980	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	T	0.35128	0.0921	M	0.85945	2.785	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.06570	-1.0819	10	0.66056	D	0.02	-19.8932	17.6693	0.88212	0.0:0.0:1.0:0.0	.	416	O00534	VMA5A_HUMAN	Y	416	ENSP00000407726:C416Y;ENSP00000376504:C416Y	ENSP00000376504:C416Y	C	+	2	0	VWA5A	123510839	1.000000	0.71417	0.998000	0.56505	0.576000	0.36127	7.722000	0.84778	2.774000	0.95407	0.655000	0.94253	TGT		0.408	VWA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387273.1	NM_014622		A	124005629	G	A	124005629	3	1	693	1	0	0	0	0	1	0	0	0	17247	1377	48	2	1289	2	VWA5A	11	124005629	Missense_Mutation	SNP	G	TCGA-KL-8324-01A-11D-2310-10	228315	124005629	11000887	62	38371											
OR8B4	283162	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	11	124294671	124294671	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr11:124294671C>T	ENST00000356130.3	-	1	118	c.97G>A	c.(97-99)Ggg>Agg	p.G33R		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	33						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)		ACATAGATCCCTAAGAATAGA	0.453																																																0													61	60	60					11																	124294671		2201	4299	6500	SO:0001583	missense	283162			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.97G>A	11.37:g.124294671C>T	ENSP00000348449:p.Gly33Arg		B2RNF8|Q6IFQ7	Missense_Mutation	SNP	ENST00000356130.3	37	CCDS31710.1	.	.	.	.	.	.	.	.	.	.	c	10.08	1.252464	0.22880	.	.	ENSG00000198657	ENST00000356130	T	0.00441	7.41	4.06	3.1	0.35709	.	0.242372	0.28841	N	0.013974	T	0.00496	0.0016	M	0.75615	2.305	0.09310	N	1	P	0.41159	0.74	P	0.46543	0.52	T	0.41998	-0.9477	10	0.30854	T	0.27	.	4.0815	0.09929	0.1674:0.5804:0.1624:0.0898	.	33	Q96RC9	OR8B4_HUMAN	R	33	ENSP00000348449:G33R	ENSP00000348449:G33R	G	-	1	0	OR8B4	123799881	0.000000	0.05858	0.981000	0.43875	0.226000	0.24999	-2.237000	0.01200	1.238000	0.43771	0.655000	0.94253	GGG		0.453	OR8B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387055.1	NM_001005196		T	124294671	C	T	124294671	3	4	693	1	0	0	0	0	1	0	0	0	11231	681	24	2	834	2	OR8B4	11	124294671	Missense_Mutation	SNP	C	TCGA-KL-8324-01A-11D-2310-10	289042	124294671	10711845	63	38372											
FOXJ2	55810	broad.mit.edu;mdanderson.org;bcgsc.ca	37	12	8196571	8196571	+	Missense_Mutation	SNP	G	G	C			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr12:8196571G>C	ENST00000162391.3	+	5	1647	c.502G>C	c.(502-504)Gag>Cag	p.E168Q	FOXJ2_ENST00000428177.2_Missense_Mutation_p.E168Q	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	168					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)		ACCAGAACAGGAGGCAAGCAA	0.542																																																0													81	80	81					12																	8196571		2203	4300	6503	SO:0001583	missense	55810			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.502G>C	12.37:g.8196571G>C	ENSP00000162391:p.Glu168Gln		A0AVK4|B2RMP3|Q96PS9|Q9NSN5	Missense_Mutation	SNP	ENST00000162391.3	37	CCDS8587.1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.575239	0.65878	.	.	ENSG00000065970	ENST00000162391;ENST00000428177	D;D	0.94793	-3.35;-3.52	5.2	5.2	0.72013	.	0.562326	0.16897	N	0.195084	D	0.90466	0.7014	N	0.24115	0.695	0.41544	D	0.988532	B;B	0.29301	0.155;0.241	B;B	0.34931	0.039;0.192	D	0.87667	0.2538	10	0.30078	T	0.28	.	14.2723	0.66159	0.0:0.0:1.0:0.0	.	168;168	Q9P0K8;Q9P0K8-2	FOXJ2_HUMAN;.	Q	168	ENSP00000162391:E168Q;ENSP00000403411:E168Q	ENSP00000162391:E168Q	E	+	1	0	FOXJ2	8087838	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.332000	0.72934	2.423000	0.82170	0.561000	0.74099	GAG		0.542	FOXJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400088.1	NM_018416		C	8196571	G	C	8196571	3	2	693	1	0	0	0	0	1	0	0	0	6014	1175	41	4	516	4	FOXJ2	12	8196571	Missense_Mutation	SNP	G	TCGA-KL-8324-01A-11D-2310-10		8196571	125655324	64	38373											
TAS2R43	259289	mdanderson.org	37	12	11244435	11244435	+	Missense_Mutation	SNP	T	T	C	rs11526470		TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr12:11244435T>C	ENST00000531678.1	-	1	477	c.394A>G	c.(394-396)Atg>Gtg	p.M132V	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176884.2	NP_795365.2	P59537	T2R43_HUMAN	taste receptor, type 2, member 43	132					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(1)|ovary(1)|prostate(2)|urinary_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		CCCAACAACATCACCAGAATG	0.363																																																0								T	VAL/MET	408,3464		164,80,1692	64	58	60		394	2	0	12	dbSNP_132	60	1419,6771		564,291,3240	no	missense	TAS2R43	NM_176884.2	21	728,371,4932	CC,CT,TT		17.326,10.5372,15.1467	benign	132/310	11244435	1827,10235	1936	4095	6031	SO:0001583	missense	259289			AF494237	CCDS53749.1	12p13.2	2012-08-22				ENSG00000255374		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18875	protein-coding gene	gene with protein product		612668				12379855	Standard	NM_176884		Approved	T2R52	uc001qzq.1	P59537		ENST00000531678.1:c.394A>G	12.37:g.11244435T>C	ENSP00000431719:p.Met132Val		P59546|Q645X4	Missense_Mutation	SNP	ENST00000531678.1	37	CCDS53749.1	.	.	.	.	.	.	.	.	.	.	-	3.576	-0.086637	0.07097	0.105372	0.17326	ENSG00000255374	ENST00000531678	T	0.00737	5.76	1.97	1.97	0.26223	.	.	.	.	.	T	0.00012	0.0000	L	0.58510	1.815	0.80722	P	0.0	B	0.02656	0.0	B	0.06405	0.002	T	0.31364	-0.9946	8	0.35671	T	0.21	.	5.8653	0.18771	0.0:0.0:0.0:1.0	.	132	P59537	T2R43_HUMAN	V	132	ENSP00000431719:M132V	ENSP00000431719:M132V	M	-	1	0	TAS2R43	11135702	0.000000	0.05858	0.005000	0.12908	0.026000	0.11368	-0.179000	0.09768	0.902000	0.36520	0.155000	0.16302	ATG		0.363	TAS2R43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383561.1	NM_176884		C	11244435	T	C	11244435	3	2	693	1	0	0	0	0	1	0	0	0	15586	1435	50	3	539	3	TAS2R43	12	11244435	Missense_Mutation	SNP	T	TCGA-KL-8324-01A-11D-2310-10	3047864	11244435	122607460	65	38374											
ATF7IP	55729	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	12	14589046	14589046	+	Missense_Mutation	SNP	T	T	G			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr12:14589046T>G	ENST00000540793.1	+	3	1807	c.1652T>G	c.(1651-1653)tTt>tGt	p.F551C	ATF7IP_ENST00000543189.1_Missense_Mutation_p.F550C|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000536444.1_Missense_Mutation_p.F550C|ATF7IP_ENST00000261168.4_Missense_Mutation_p.F551C|ATF7IP_ENST00000544627.1_Missense_Mutation_p.F559C			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	551	Glu-rich.				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						TCAGATGAATTTTCTAGACGA	0.333																																																0													72	69	70					12																	14589046		2203	4300	6503	SO:0001583	missense	55729			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.1652T>G	12.37:g.14589046T>G	ENSP00000444589:p.Phe551Cys		F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Missense_Mutation	SNP	ENST00000540793.1	37	CCDS8663.1	.	.	.	.	.	.	.	.	.	.	T	12.78	2.041184	0.35989	.	.	ENSG00000171681	ENST00000261168;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000540793	T;T;T;T;T	0.18810	2.19;2.19;2.19;2.19;2.19	5.48	1.68	0.24146	.	0.254035	0.28853	N	0.013940	T	0.30355	0.0762	L	0.51422	1.61	0.21897	N	0.999481	D;B;D;D;B;B	0.64830	0.994;0.005;0.981;0.981;0.004;0.004	P;B;P;P;B;B	0.61722	0.893;0.005;0.673;0.673;0.01;0.01	T	0.04522	-1.0945	10	0.66056	D	0.02	-10.5064	6.0815	0.19944	0.0:0.1288:0.2623:0.6089	.	559;550;550;551;550;162	B4E2A2;B4DRL6;G3V1U0;Q6VMQ6;Q6VMQ6-2;B3KQF8	.;.;.;MCAF1_HUMAN;.;.	C	551;550;550;559;551	ENSP00000261168:F551C;ENSP00000443179:F550C;ENSP00000445955:F550C;ENSP00000440440:F559C;ENSP00000444589:F551C	ENSP00000261168:F551C	F	+	2	0	ATF7IP	14480313	0.998000	0.40836	0.525000	0.27900	0.251000	0.25915	1.483000	0.35497	0.407000	0.25591	0.477000	0.44152	TTT		0.333	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179		G	14589046	T	G	14589046	3	3	693	1	0	0	0	0	1	0	0	0	1087	1841	64	5	1662	5	ATF7IP	12	14589046	Missense_Mutation	SNP	T	TCGA-KL-8324-01A-11D-2310-10	3344611	14589046	119262849	66	38375											
DDX11	1663	mdanderson.org	37	12	31247692	31247692	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr12:31247692C>T	ENST00000407793.2	+	14	1669	c.1418C>T	c.(1417-1419)aCg>aTg	p.T473M	DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000545668.1_Missense_Mutation_p.T473M|DDX11_ENST00000350437.4_Missense_Mutation_p.T473M|DDX11_ENST00000539673.1_3'UTR|DDX11_ENST00000542838.1_Missense_Mutation_p.T473M|DDX11_ENST00000228264.6_Missense_Mutation_p.T447M	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	473					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TTCTCAGGGACGGAGCTGAAG	0.512										Multiple Myeloma(12;0.14)																																						0													37	38	38					12																	31247692		2202	4280	6482	SO:0001583	missense	1663			U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"DEAD-boxes"	2736	protein-coding gene	gene with protein product	"CHL1-like helicase homolog (S. cerevisiae)"	601150	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)", "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.1418C>T	12.37:g.31247692C>T	ENSP00000384703:p.Thr473Met		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000407793.2	37	CCDS44856.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.158393	0.38119	.	.	ENSG00000013573	ENST00000542838;ENST00000407793;ENST00000404673;ENST00000228264;ENST00000545668;ENST00000350437	D;T;D;T;T	0.91740	-2.9;0.54;-2.9;0.54;0.54	3.23	2.33	0.28932	.	0.502768	0.22867	N	0.054667	D	0.94062	0.8097	.	.	.	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.66084	0.941;0.924;0.911;0.941	D	0.91770	0.5427	9	0.44086	T	0.13	.	8.1231	0.30982	0.0:0.8744:0.0:0.1256	.	447;473;473;473	Q96FC9-3;Q96FC9;Q96FC9-4;Q96FC9-2	.;DDX11_HUMAN;.;.	M	473;473;198;447;473;473	ENSP00000443426:T473M;ENSP00000384703:T473M;ENSP00000228264:T447M;ENSP00000440402:T473M;ENSP00000309965:T473M	ENSP00000228264:T447M	T	+	2	0	DDX11	31138959	0.936000	0.31750	0.959000	0.39883	0.636000	0.38137	1.961000	0.40432	0.556000	0.29098	-0.362000	0.07510	ACG		0.512	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653		T	31247692	C	T	31247692	3	4	693	1	0	0	0	0	1	0	0	0	4345	536	19	1	1468	1	DDX11	12	31247692	Missense_Mutation	SNP	C	TCGA-KL-8324-01A-11D-2310-10	16658646	31247692	102604203	67	38376											
OR10A7	121364	broad.mit.edu	37	12	55615316	55615316	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr12:55615316G>A	ENST00000326258.1	+	1	508	c.508G>A	c.(508-510)Gga>Aga	p.G170R		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	170						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						TCCTTTCTGTGGACCAAATGC	0.498																																																0													179	153	162					12																	55615316		2203	4300	6503	SO:0001583	missense	121364			BK004327	CCDS31815.1	12q13.13	2012-08-09				ENSG00000179919		"GPCR / Class A : Olfactory receptors"	15329	protein-coding gene	gene with protein product							Standard	NM_001005280		Approved		uc010spf.2	Q8NGE5	OTTHUMG00000169860	ENST00000326258.1:c.508G>A	12.37:g.55615316G>A	ENSP00000326718:p.Gly170Arg		Q6IFD5|Q96R19	Missense_Mutation	SNP	ENST00000326258.1	37	CCDS31815.1	.	.	.	.	.	.	.	.	.	.	g	15.11	2.736040	0.49045	.	.	ENSG00000179919	ENST00000326258	T	0.38560	1.13	3.55	3.55	0.40652	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40554	N	0.001068	T	0.53061	0.1773	M	0.69823	2.125	0.32695	N	0.513659	P	0.45768	0.866	P	0.50192	0.634	T	0.69558	-0.5113	10	0.59425	D	0.04	.	15.2909	0.73865	0.0:0.0:1.0:0.0	.	170	Q8NGE5	O10A7_HUMAN	R	170	ENSP00000326718:G170R	ENSP00000326718:G170R	G	+	1	0	OR10A7	53901583	1.000000	0.71417	0.943000	0.38184	0.753000	0.42808	3.279000	0.51670	2.002000	0.58637	0.637000	0.83480	GGA		0.498	OR10A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406308.1			A	55615316	G	A	55615316	3	1	693	1	0	0	0	0	1	0	0	0	10897	1349	47	2	510	2	OR10A7	12	55615316	Missense_Mutation	SNP	G	TCGA-KL-8324-01A-11D-2310-10	24367624	55615316	78236579	68	38377											
IKBIP	121457	mdanderson.org	37	12	99019897	99019897	+	Intron	SNP	C	C	A			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr12:99019897C>A	ENST00000342502.2	-	2	709				IKBIP_ENST00000299157.4_Silent_p.V315V|IKBIP_ENST00000393042.3_Intron|IKBIP_ENST00000420861.1_Intron	NM_201612.2	NP_963906.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein						response to X-ray (GO:0010165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						TTATTTCAGACACTGCTTTCA	0.338																																																0													82	78	79					12																	99019897		2203	4299	6502	SO:0001627	intron_variant	121457			AJ539425	CCDS9067.1, CCDS9068.1, CCDS41822.1	12q23.1	2010-02-17			ENSG00000166130	ENSG00000166130			26430	protein-coding gene	gene with protein product	"I kappa B kinase interacting protein"	609861				15389287	Standard	NM_153687		Approved	FLJ31051, IKIP	uc001tfx.4	Q70UQ0	OTTHUMG00000170213	ENST00000342502.2:c.297+8176G>T	12.37:g.99019897C>A			Q6ZWH4|Q70UP9|Q86V91|Q96ND2	Silent	SNP	ENST00000342502.2	37	CCDS9067.1																																																																																				0.338	IKBIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000408003.2	NM_153687		A	99019897	C	A	99019897	1	1	693	0	1	0	0	0	0	0	0	0	7611	465	17	4		4	IKBIP	12	99019897	Intron	SNP	C	TCGA-KL-8324-01A-11D-2310-10	43404581	99019897	34831998	69	38378											
CCDC64	92558	broad.mit.edu	37	12	120510407	120510407	+	Silent	SNP	G	G	A			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr12:120510407G>A	ENST00000397558.2	+	6	1182	c.1182G>A	c.(1180-1182)acG>acA	p.T394T	CCDC64_ENST00000257583.4_Silent_p.T43T|CCDC64_ENST00000446727.2_Intron	NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	394					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)					CCGTCTCCACGGACTCCTCCA	0.572																																																0													62	65	64					12																	120510407		2108	4236	6344	SO:0001819	synonymous_variant	92558			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.1182G>A	12.37:g.120510407G>A			A8MUC8|B4DWL0|B5MDJ0|O95000	Silent	SNP	ENST00000397558.2	37	CCDS41845.1																																																																																				0.572	CCDC64-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403390.2	NM_207311		A	120510407	G	A	120510407	2	1	693	1	0	0	0	0	0	0	0	1	2837	1103	39	1		1	CCDC64	12	120510407	Silent	SNP	G	TCGA-KL-8324-01A-11D-2310-10	21490510	120510407	13341488	70	38379											
POLR1D	51082	broad.mit.edu;mdanderson.org	37	13	28197257	28197257	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr13:28197257C>T	ENST00000302979.3	+	3	1294	c.272C>T	c.(271-273)cCa>cTa	p.P91L	POLR1D_ENST00000465887.1_Intron|POLR1D_ENST00000399696.1_Missense_Mutation_p.P91L|POLR1D_ENST00000399697.3_Intron|LNX2_ENST00000316334.3_5'Flank	NM_015972.3	NP_057056.1	Q9Y2S0	RPAC2_HUMAN	polymerase (RNA) I polypeptide D, 16kDa	91					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)			endometrium(1)|large_intestine(1)|lung(4)|stomach(2)	8		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0758)|OV - Ovarian serous cystadenocarcinoma(117;0.1)|Epithelial(112;0.213)		GGTACCCTTCCAGCTGTTGAG	0.443																																																0													104	105	104					13																	28197257		2203	4300	6503	SO:0001583	missense	51082			AF077044, BC018528	CCDS9324.1, CCDS9325.1, CCDS73555.1	13q12.2	2013-01-21			ENSG00000186184	ENSG00000186184		"RNA polymerase subunits"	20422	protein-coding gene	gene with protein product		613715				11042152, 12391170	Standard	NM_015972		Approved	RPAC2, RPA16, RPO1-3, RPA9, MGC9850	uc001urp.3	Q9Y2S0	OTTHUMG00000016635	ENST00000302979.3:c.272C>T	13.37:g.28197257C>T	ENSP00000302478:p.Pro91Leu		Q5TBX2|Q96BR3	Missense_Mutation	SNP	ENST00000302979.3	37	CCDS9325.1	.	.	.	.	.	.	.	.	.	.	C	19.08	3.757524	0.69648	.	.	ENSG00000186184	ENST00000302979;ENST00000399696	D;D	0.92495	-3.05;-3.05	5.08	5.08	0.68730	DNA-directed RNA polymerase, dimerisation (1);DNA-directed RNA polymerase, RBP11-like (1);	.	.	.	.	D	0.95050	0.8397	M	0.76574	2.34	0.58432	D	0.999998	D	0.69078	0.997	D	0.63703	0.917	D	0.94642	0.7831	9	0.52906	T	0.07	-7.0239	14.7727	0.69691	0.0:1.0:0.0:0.0	.	91	Q9Y2S0	RPAC2_HUMAN	L	91	ENSP00000302478:P91L;ENSP00000382603:P91L	ENSP00000302478:P91L	P	+	2	0	POLR1D	27095257	0.990000	0.36364	1.000000	0.80357	0.981000	0.71138	1.158000	0.31737	2.767000	0.95098	0.650000	0.86243	CCA		0.443	POLR1D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044305.1	NM_015972, NM_152705		T	28197257	C	T	28197257	3	4	693	1	0	0	0	0	1	0	0	0	12214	594	21	2	278	2	POLR1D	13	28197257	Missense_Mutation	SNP	C	TCGA-KL-8324-01A-11D-2310-10		28197257	86972621	71	38380											
NEK5	341676	broad.mit.edu	37	13	52686431	52686431	+	Silent	SNP	T	T	C			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr13:52686431T>C	ENST00000355568.4	-	5	424	c.285A>G	c.(283-285)caA>caG	p.Q95Q		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	95	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)		ACACACCCCGTTGTCTATTGA	0.348																																																0													132	121	125					13																	52686431		2203	4300	6503	SO:0001819	synonymous_variant	341676			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.285A>G	13.37:g.52686431T>C			Q5TAP5	Silent	SNP	ENST00000355568.4	37	CCDS31979.1																																																																																				0.348	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045045.3	NM_199289		C	52686431	T	C	52686431	2	2	693	1	0	0	0	0	0	0	0	1	10329	1722	60	3		3	NEK5	13	52686431	Silent	SNP	T	TCGA-KL-8324-01A-11D-2310-10	24489174	52686431	62483447	72	38381											
GNPNAT1	64841	broad.mit.edu	37	14	53250171	53250172	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	TC	TC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr14:53250171_53250172delTC	ENST00000216410.3	-	3	373_374	c.186_187delGA	c.(184-189)gagactfs	p.ET62fs	RN7SL588P_ENST00000583393.1_RNA|GNPNAT1_ENST00000554230.1_5'UTR	NM_198066.3	NP_932332.1	Q96EK6	GNA1_HUMAN	glucosamine-phosphate N-acetyltransferase 1	62	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)					ACAACTCCAGTCTCTGTTAGCT	0.327																																																0																																										SO:0001589	frameshift_variant	64841			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.186_187delGA	14.37:g.53250173_53250174delTC	ENSP00000216410:p.Glu62fs			Frame_Shift_Del	DEL	ENST00000216410.3	37	CCDS9712.1																																																																																				0.327	GNPNAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276898.1			-	53250172	TC	-	53250171	7	5	693	1	0	1	0	1	0	0	0	0	6546	1667	58	0	383	0	GNPNAT1	14	53250171	Frame_Shift_Del	DEL	TC	TCGA-KL-8324-01A-11D-2310-10		53250171	54099369	73	38382											
AHSA1	10598	broad.mit.edu	37	14	77926107	77926111	+	Frame_Shift_Del	DEL	CTTAT	CTTAT	-			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	CTTAT	CTTAT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr14:77926107_77926111delCTTAT	ENST00000216479.3	+	2	389_393	c.229_233delCTTAT	c.(229-234)cttatcfs	p.LI77fs	AHSA1_ENST00000555457.1_3'UTR|VIPAS39_ENST00000448935.2_5'Flank|VIPAS39_ENST00000556412.1_5'Flank|AHSA1_ENST00000555517.1_Frame_Shift_Del_p.LI77fs|VIPAS39_ENST00000553888.1_5'Flank|AHSA1_ENST00000535854.2_Frame_Shift_Del_p.LI77fs|VIPAS39_ENST00000343765.2_5'Flank|VIPAS39_ENST00000557658.1_5'Flank|VIPAS39_ENST00000556909.1_5'Flank|VIPAS39_ENST00000327028.4_5'Flank	NM_012111.2	NP_036243.1	O95433	AHSA1_HUMAN	AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)	77					positive regulation of ATPase activity (GO:0032781)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	ATPase activator activity (GO:0001671)|chaperone binding (GO:0051087)			endometrium(1)|kidney(3)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		CAAAGGGAAACTTATCTTCTTTTAT	0.429																																																0																																										SO:0001589	frameshift_variant	10598			AJ243310	CCDS9863.1	14q	2008-02-05	2003-04-04	2003-04-11		ENSG00000100591			1189	protein-coding gene	gene with protein product		608466	"chromosome 14 open reading frame 3"	C14orf3			Standard	NM_012111		Approved	p38	uc001xtw.3	O95433		ENST00000216479.3:c.229_233delCTTAT	14.37:g.77926107_77926111delCTTAT	ENSP00000216479:p.Leu77fs		B2R9L2|B4DUR9|Q96IL6|Q9P060	Frame_Shift_Del	DEL	ENST00000216479.3	37	CCDS9863.1																																																																																				0.429	AHSA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414017.1	NM_012111		-	77926111	CTTAT	-	77926107	7	5	693	1	0	1	0	1	0	0	0	0	418	565	20	0	235	0	AHSA1	14	77926107	Frame_Shift_Del	DEL	CTTAT	TCGA-KL-8324-01A-11D-2310-10	24675936	77926107	29423433	74	38383	294	2									
AHSA1	10598	bcgsc.ca	37	14	77926108	77926112	+	Frame_Shift_Del	DEL	CTTAT	CTTAT	-			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	CTTAT	CTTAT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr14:77926108_77926112delCTTAT	ENST00000216479.3	+	2	390_394	c.230_234delCTTAT	c.(229-234)ccttatfs	p.PY77fs	AHSA1_ENST00000555457.1_3'UTR|VIPAS39_ENST00000448935.2_5'Flank|VIPAS39_ENST00000556412.1_5'Flank|AHSA1_ENST00000555517.1_Frame_Shift_Del_p.PY77fs|VIPAS39_ENST00000553888.1_5'Flank|AHSA1_ENST00000535854.2_Frame_Shift_Del_p.PY77fs|VIPAS39_ENST00000343765.2_5'Flank|VIPAS39_ENST00000557658.1_5'Flank|VIPAS39_ENST00000556909.1_5'Flank|VIPAS39_ENST00000327028.4_5'Flank	NM_012111.2	NP_036243.1	O95433	AHSA1_HUMAN	AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)	77					positive regulation of ATPase activity (GO:0032781)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	ATPase activator activity (GO:0001671)|chaperone binding (GO:0051087)			endometrium(1)|kidney(3)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		AAAGGGAAACTTATCTTCTTTTATG	0.429																																																0																																										SO:0001589	frameshift_variant	10598			AJ243310	CCDS9863.1	14q	2008-02-05	2003-04-04	2003-04-11		ENSG00000100591			1189	protein-coding gene	gene with protein product		608466	"chromosome 14 open reading frame 3"	C14orf3			Standard	NM_012111		Approved	p38	uc001xtw.3	O95433		ENST00000216479.3:c.230_234delCTTAT	14.37:g.77926108_77926112delCTTAT	ENSP00000216479:p.Pro77fs		B2R9L2|B4DUR9|Q96IL6|Q9P060	Frame_Shift_Del	DEL	ENST00000216479.3	37	CCDS9863.1																																																																																				0.429	AHSA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414017.1	NM_012111		-	77926112	CTTAT	-	77926108	7	5	693	1	0	1	0	1	0	0	0	0	418	1609	56	0	236	0	AHSA1	14	77926108	Frame_Shift_Del	DEL	CTTAT	TCGA-KL-8324-01A-11D-2310-10	1	77926108	29423432	75	38384	294	2									
OTUD7A	161725	broad.mit.edu	37	15	31779681	31779681	+	Silent	SNP	G	G	A	rs200079505		TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr15:31779681G>A	ENST00000307050.4	-	9	1331	c.1239C>T	c.(1237-1239)gaC>gaT	p.D413D	OTUD7A_ENST00000382902.1_Silent_p.D420D	NM_130901.1	NP_570971.1	Q8TE49	OTU7A_HUMAN	OTU deubiquitinase 7A	413	Catalytic. {ECO:0000250}.				protein K11-linked deubiquitination (GO:0035871)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		TATCGTTGTCGTCTTTCCCCC	0.612																																																0													109	92	98					15																	31779681		2202	4299	6501	SO:0001819	synonymous_variant	161725			AJ430383	CCDS10026.1	15q13.1	2014-02-24	2014-02-24	2006-07-07	ENSG00000169918	ENSG00000169918		"OTU domain containing"	20718	protein-coding gene	gene with protein product		612024	"chromosome 15 open reading frame 16", "OTU domain containing 7", "OTU domain containing 7A"	C15orf16, OTUD7		23827681	Standard	NM_130901		Approved	CEZANNE2	uc001zfq.3	Q8TE49	OTTHUMG00000129275	ENST00000307050.4:c.1239C>T	15.37:g.31779681G>A			Q8IWK5	Silent	SNP	ENST00000307050.4	37	CCDS10026.1																																																																																				0.612	OTUD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251393.2	NM_130901		A	31779681	G	A	31779681	2	1	693	1	0	0	0	0	0	0	0	1	11320	1136	40	1		1	OTUD7A	15	31779681	Silent	SNP	G	TCGA-KL-8324-01A-11D-2310-10		31779681	70751711	76	38385											
FAM98B	283742	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	15	38773557	38773557	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr15:38773557C>T	ENST00000491535.1	+	7	802	c.794C>T	c.(793-795)aCg>aTg	p.T265M	FAM98B_ENST00000397609.2_Missense_Mutation_p.T265M	NM_001042429.1	NP_001035894.1	Q52LJ0	FA98B_HUMAN	family with sequence similarity 98, member B	265						cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-splicing ligase complex (GO:0072669)	poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8		all_cancers(109;3.11e-17)|all_epithelial(112;2.64e-15)|Lung NSC(122;2.11e-11)|all_lung(180;5.61e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;9e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0209)		CCCAAGACAACGATTACAATG	0.408																																																0													103	91	95					15																	38773557		2200	4297	6497	SO:0001583	missense	283742				CCDS10047.2	15q14	2006-11-29		2005-11-20	ENSG00000171262	ENSG00000171262			26773	protein-coding gene	gene with protein product						12477932	Standard	NM_173611		Approved	FLJ38426	uc001zkc.3	Q52LJ0	OTTHUMG00000129831	ENST00000491535.1:c.794C>T	15.37:g.38773557C>T	ENSP00000453166:p.Thr265Met		A8MUW5|Q8N935	Missense_Mutation	SNP	ENST00000491535.1	37	CCDS42015.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.126754	0.37533	.	.	ENSG00000171262	ENST00000397609;ENST00000305752	T	0.45668	0.89	4.85	4.85	0.62838	.	0.204155	0.50627	D	0.000111	T	0.58892	0.2154	L	0.45581	1.43	0.47407	D	0.999411	D;P	0.89917	1.0;0.949	D;B	0.75484	0.986;0.387	T	0.56878	-0.7906	10	0.45353	T	0.12	-24.3977	18.5212	0.90952	0.0:1.0:0.0:0.0	.	265;265	A8MUW5;Q52LJ0	.;FA98B_HUMAN	M	265	ENSP00000380734:T265M	ENSP00000303412:T265M	T	+	2	0	FAM98B	36560849	0.172000	0.23043	0.931000	0.37212	0.092000	0.18411	0.935000	0.28924	2.675000	0.91044	0.467000	0.42956	ACG		0.408	FAM98B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252071.2	NM_173611		T	38773557	C	T	38773557	3	4	693	1	0	0	0	0	1	0	0	0	5659	536	19	1	820	1	FAM98B	15	38773557	Missense_Mutation	SNP	C	TCGA-KL-8324-01A-11D-2310-10	6993876	38773557	63757835	77	38386											
CASC5	57082	broad.mit.edu	37	15	40943724	40943724	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr15:40943724A>G	ENST00000346991.5	+	21	6736	c.6346A>G	c.(6346-6348)Atg>Gtg	p.M2116V	CASC5_ENST00000399668.2_Missense_Mutation_p.M2090V			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	2116	Necessary for kinetochore localization and for interaction with NSL1 and DSN1.				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)		AATAGACTTTATGCAAAAACA	0.363																																																0													85	78	80					15																	40943724		1829	4095	5924	SO:0001583	missense	57082			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.6346A>G	15.37:g.40943724A>G	ENSP00000335463:p.Met2116Val		Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	ENST00000346991.5	37	CCDS42023.1	.	.	.	.	.	.	.	.	.	.	A	9.506	1.104450	0.20632	.	.	ENSG00000137812	ENST00000346991;ENST00000399668	T;T	0.04502	3.61;3.61	5.05	-2.59	0.06209	.	1.055760	0.07421	N	0.893975	T	0.01222	0.0040	N	0.00926	-1.1	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.47787	-0.9090	10	0.08381	T	0.77	.	1.2805	0.02040	0.41:0.2947:0.1485:0.1468	.	2090;2116	Q8NG31-2;Q8NG31	.;CASC5_HUMAN	V	2116;2090	ENSP00000335463:M2116V;ENSP00000382576:M2090V	ENSP00000335463:M2116V	M	+	1	0	CASC5	38731016	0.000000	0.05858	0.118000	0.21660	0.947000	0.59692	0.346000	0.19997	-0.082000	0.12640	-0.313000	0.08912	ATG		0.363	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508		G	40943724	A	G	40943724	3	3	693	1	0	0	0	0	1	0	0	0	2665	449	16	3	6424	3	CASC5	15	40943724	Missense_Mutation	SNP	A	TCGA-KL-8324-01A-11D-2310-10	2170167	40943724	61587668	78	38387											
AGBL1	123624	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	15	86808005	86808005	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr15:86808005G>A	ENST00000441037.2	+	10	1560	c.1465G>A	c.(1465-1467)Gtc>Atc	p.V489I	AGBL1_ENST00000389298.3_Missense_Mutation_p.V220I|AGBL1_ENST00000421325.2_Missense_Mutation_p.V489I	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	489					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						ATTTCCTGATGTCTGGGGACA	0.502																																																0													100	98	98					15																	86808005		1943	4140	6083	SO:0001583	missense	123624			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.1465G>A	15.37:g.86808005G>A	ENSP00000413001:p.Val489Ile		A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	37	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	G	14.06	2.422678	0.43020	.	.	ENSG00000166748	ENST00000441037;ENST00000421325;ENST00000389298	T;T	0.27557	1.66;1.66	5.96	-7.53	0.01336	Armadillo-type fold (1);	0.396899	0.26875	N	0.022048	T	0.10723	0.0262	N	0.14661	0.345	0.09310	N	1	B;B;B	0.14438	0.01;0.01;0.0	B;B;B	0.14023	0.007;0.01;0.001	T	0.05818	-1.0862	10	0.37606	T	0.19	-3.0574	3.7427	0.08536	0.0996:0.1294:0.4062:0.3648	.	188;220;489	Q96MI9-2;Q96MI9-3;Q96MI9	.;.;CBPC4_HUMAN	I	518;489;220	ENSP00000397173:V489I;ENSP00000373949:V220I	ENSP00000373949:V220I	V	+	1	0	AGBL1	84609009	0.706000	0.27856	0.070000	0.20053	0.901000	0.52897	0.294000	0.19047	-0.795000	0.04462	-1.181000	0.01715	GTC		0.502	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		A	86808005	G	A	86808005	3	1	693	1	0	0	0	0	1	0	0	0	375	1377	48	2	1499	2	AGBL1	15	86808005	Missense_Mutation	SNP	G	TCGA-KL-8324-01A-11D-2310-10	45864281	86808005	15723387	79	38388											
DCTPP1	79077	broad.mit.edu	37	16	30435593	30435593	+	Silent	SNP	C	C	T			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr16:30435593C>T	ENST00000319285.4	-	3	568	c.474G>A	c.(472-474)gcG>gcA	p.A158A	ZNF771_ENST00000566625.1_Intron|DCTPP1_ENST00000567983.1_Silent_p.A59A|DCTPP1_ENST00000568434.1_Silent_p.A37A|DCTPP1_ENST00000568973.1_Silent_p.A37A|DCTPP1_ENST00000565758.1_Silent_p.A37A	NM_024096.1	NP_077001.1	Q9H773	DCTP1_HUMAN	dCTP pyrophosphatase 1	158					nucleoside triphosphate catabolic process (GO:0009143)|protein homotetramerization (GO:0051289)	cytosol (GO:0005829)	dCTP diphosphatase activity (GO:0047840)|magnesium ion binding (GO:0000287)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|pyrimidine deoxyribonucleotide binding (GO:0032556)			kidney(1)|large_intestine(3)|upper_aerodigestive_tract(1)	5						AGGGAATGTCCGCAGGCCCCA	0.607																																																0													41	38	39					16																	30435593		2197	4300	6497	SO:0001819	synonymous_variant	79077			BC001344	CCDS10680.1	16p11.2	2009-02-11			ENSG00000179958	ENSG00000179958	3.6.1.12		28777	protein-coding gene	gene with protein product	"XTP3-transactivated protein A"	615840				15740738	Standard	NM_024096		Approved	MGC5627, RS21C6, CDA03, XTP3TPA	uc002dyf.3	Q9H773	OTTHUMG00000132416	ENST00000319285.4:c.474G>A	16.37:g.30435593C>T				Silent	SNP	ENST00000319285.4	37	CCDS10680.1																																																																																				0.607	DCTPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255553.2	NM_024096		T	30435593	C	T	30435593	2	4	693	1	0	0	0	0	0	0	0	1	4314	639	23	1		1	DCTPP1	16	30435593	Silent	SNP	C	TCGA-KL-8324-01A-11D-2310-10		30435593	59919160	80	38389											
ITGAM	3684	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	16	31283282	31283282	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr16:31283282A>G	ENST00000287497.8	+	7	748	c.673A>G	c.(673-675)Aca>Gca	p.T225A	ITGAM_ENST00000544665.3_Missense_Mutation_p.T225A			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	225	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				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						GCTTGGGCGGACACACACGGC	0.507																																																0													94	92	92					16																	31283282		1990	4204	6194	SO:0001583	missense	3684			J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"CD molecules", "Complement system", "Integrins"	6149	protein-coding gene	gene with protein product		120980	"integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.673A>G	16.37:g.31283282A>G	ENSP00000287497:p.Thr225Ala		Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	ENST00000287497.8	37	CCDS45470.1	.	.	.	.	.	.	.	.	.	.	A	19.61	3.859430	0.71834	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	D;D	0.89123	-2.47;-2.47	5.5	5.5	0.81552	von Willebrand factor, type A (3);	.	.	.	.	D	0.95392	0.8504	M	0.91038	3.17	0.32039	N	0.598499	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.96123	0.9086	9	0.87932	D	0	.	13.4224	0.61005	1.0:0.0:0.0:0.0	.	225;225	Q4VAK1;P11215	.;ITAM_HUMAN	A	225	ENSP00000441691:T225A;ENSP00000287497:T225A	ENSP00000287497:T225A	T	+	1	0	ITGAM	31190783	0.993000	0.37304	0.134000	0.22075	0.006000	0.05464	5.684000	0.68197	2.226000	0.72624	0.459000	0.35465	ACA		0.507	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		G	31283282	A	G	31283282	3	3	693	1	0	0	0	0	1	0	0	0	7889	275	10	3	699	3	ITGAM	16	31283282	Missense_Mutation	SNP	A	TCGA-KL-8324-01A-11D-2310-10	847689	31283282	59071471	81	38390											
ANKRD11	29123	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	16	89349348	89349348	+	Missense_Mutation	SNP	A	A	T			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr16:89349348A>T	ENST00000301030.4	-	9	4062	c.3602T>A	c.(3601-3603)gTc>gAc	p.V1201D	ANKRD11_ENST00000378330.2_Missense_Mutation_p.V1201D	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1201	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)		CTTTTCAAAGACTTTCTCTTT	0.502																																																0													86	97	93					16																	89349348		2198	4300	6498	SO:0001583	missense	29123			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"Ankyrin repeat domain containing"	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.3602T>A	16.37:g.89349348A>T	ENSP00000301030:p.Val1201Asp		Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	A	0.526	-0.860029	0.02610	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.37235	1.21;1.21	4.85	-9.7	0.00521	.	1.943490	0.02494	N	0.089786	T	0.20129	0.0484	L	0.29908	0.895	0.09310	N	1	B	0.21071	0.051	B	0.16722	0.016	T	0.06285	-1.0835	10	0.18276	T	0.48	.	6.167	0.20396	0.1154:0.1856:0.5219:0.1771	.	1201	Q6UB99	ANR11_HUMAN	D	1201	ENSP00000301030:V1201D;ENSP00000367581:V1201D	ENSP00000301030:V1201D	V	-	2	0	ANKRD11	87876849	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.493000	0.06459	-1.869000	0.01141	-0.379000	0.06801	GTC		0.502	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		T	89349348	A	T	89349348	3	4	693	1	0	0	0	0	1	0	0	0	639	275	10	5	4409	5	ANKRD11	16	89349348	Missense_Mutation	SNP	A	TCGA-KL-8324-01A-11D-2310-10	58066066	89349348	1005405	82	38391											
ZZEF1	23140	ucsc.edu;bcgsc.ca	37	17	3981271	3981271	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr17:3981271C>T	ENST00000381638.2	-	19	3019	c.2895G>A	c.(2893-2895)tgG>tgA	p.W965*	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	965							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						CTTGGACGGACCAGAACAGGG	0.547																																																0													81	74	77					17																	3981271		2203	4300	6503	SO:0001587	stop_gained	23140			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.2895G>A	17.37:g.3981271C>T	ENSP00000371051:p.Trp965*		A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Nonsense_Mutation	SNP	ENST00000381638.2	37	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	C	41	9.003988	0.99033	.	.	ENSG00000074755	ENST00000381638	.	.	.	5.98	5.01	0.66863	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.0904	15.0566	0.71917	0.0:0.9322:0.0:0.0678	.	.	.	.	X	965	.	ENSP00000371051:W965X	W	-	3	0	ZZEF1	3928020	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.276000	0.78559	1.537000	0.49254	0.591000	0.81541	TGG		0.547	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		T	3981271	C	T	3981271	4	4	693	1	0	0	0	0	0	1	0	0	18260	508	18	2	6138	2	ZZEF1	17	3981271	Nonsense_Mutation	SNP	C	TCGA-KL-8324-01A-11D-2310-10		3981271	77213939	83	38392											
POLR2A	5430	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	17	7400726	7400726	+	Missense_Mutation	SNP	C	C	T	rs201628232		TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr17:7400726C>T	ENST00000322644.6	+	6	1270	c.871C>T	c.(871-873)Cgg>Tgg	p.R291W	POLR2A_ENST00000572844.1_Missense_Mutation_p.R291W	NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	291					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)				CAATCAGCTGCGGCGCAATGA	0.567													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20780	0.0		0.0	False		,,,				2504	0.0															0													80	72	75					17																	7400726		2203	4300	6503	SO:0001583	missense	5430					17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"RNA polymerase subunits"	9187	protein-coding gene	gene with protein product	"DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit", "RNA polymerase II subunit B1"	180660	"polymerase (RNA) II (DNA directed) polypeptide A (220kD)"	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.871C>T	17.37:g.7400726C>T	ENSP00000314949:p.Arg291Trp		A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	37	CCDS32548.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	19.45	3.830630	0.71258	.	.	ENSG00000181222	ENST00000535204;ENST00000322644	T	0.27402	1.67	5.55	4.56	0.56223	RNA polymerase, N-terminal (1);RNA polymerase Rpb1, domain 1 (1);	0.063343	0.64402	D	0.000010	T	0.64886	0.2639	H	0.95982	3.75	0.47584	D	0.999464	D;D	0.76494	0.998;0.999	D;P	0.64877	0.93;0.783	T	0.75703	-0.3225	10	0.66056	D	0.02	-8.6605	12.3677	0.55238	0.3066:0.6934:0.0:0.0	.	291;291	P24928;Q6NX41	RPB1_HUMAN;.	W	247;291	ENSP00000314949:R291W	ENSP00000314949:R291W	R	+	1	2	SLC35G6	7341450	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.127000	0.42035	1.297000	0.44761	0.557000	0.71058	CGG		0.567	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		T	7400726	C	T	7400726	3	4	693	1	0	0	0	0	1	0	0	0	12216	759	27	1	893	1	POLR2A	17	7400726	Missense_Mutation	SNP	C	TCGA-KL-8324-01A-11D-2310-10	3419455	7400726	73794484	84	38393											
TP53	7157	broad.mit.edu;hgsc.bcm.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr17:7578190T>C	ENST00000269305.4	-	6	848	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000445888.2_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_ENST00000574684.1_Intron|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)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	343	Substitution - Missense(315)|Unknown(11)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)|Insertion - Frameshift(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)	GRCh37	CM015378|CM951227	TP53	M	rs121912666						102	94	97					17																	7578190		2203	4300	6503	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.659A>G	17.37:g.7578190T>C	ENSP00000269305:p.Tyr220Cys		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	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		C	7578190	T	C	7578190	3	2	693	1	0	0	0	0	1	0	0	0	16386	1406	49	3	635	3	TP53	17	7578190	Missense_Mutation	SNP	T	TCGA-KL-8324-01A-11D-2310-10	177464	7578190	73617020	85	38394											
TP53	7157	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	17	7578280	7578280	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr17:7578280G>A	ENST00000269305.4	-	6	758	c.569C>T	c.(568-570)cCt>cTt	p.P190L	TP53_ENST00000445888.2_Missense_Mutation_p.P190L|TP53_ENST00000359597.4_Missense_Mutation_p.P190L|TP53_ENST00000413465.2_Missense_Mutation_p.P190L|TP53_ENST00000455263.2_Missense_Mutation_p.P190L|TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_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)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	67	Substitution - Missense(27)|Deletion - In frame(12)|Deletion - Frameshift(11)|Whole gene deletion(8)|Unknown(6)|Complex - deletion inframe(2)|Insertion - Frameshift(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)											89	80	83					17																	7578280		2203	4300	6503	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.569C>T	17.37:g.7578280G>A	ENSP00000269305:p.Pro190Leu		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	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		A	7578280	G	A	7578280	3	1	693	1	0	0	0	0	1	0	0	0	16386	1000	35	2	725	2	TP53	17	7578280	Missense_Mutation	SNP	G	TCGA-KL-8324-01A-11D-2310-10	90	7578280	73616930	86	38395											
KRTAP1-1	81851	mdanderson.org	37	17	39197485	39197485	+	Silent	SNP	A	A	G			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr17:39197485A>G	ENST00000306271.4	-	1	228	c.165T>C	c.(163-165)tgT>tgC	p.C55C		NM_030967.2	NP_112229.1	Q07627	KRA11_HUMAN	keratin associated protein 1-1	55			Missing (in allele KAP1.7). {ECO:0000269|PubMed:11841537}.|PSCSTSGTCGSSCCQPSCCETSSCQPRCCETSCCQPSCCQT SFCGFP -> R (in allele KAP1.6).			keratin filament (GO:0045095)				NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1)	14		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TAGGAAATCCACAGAAGCTGG	0.602																																																0													83	92	89					17																	39197485		2026	4210	6236	SO:0001819	synonymous_variant	81851			AJ406926	CCDS42324.1	17q21.2	2014-06-05			ENSG00000188581	ENSG00000188581		"Keratin associated proteins"	16772	protein-coding gene	gene with protein product		608819				11279113	Standard	NM_030967		Approved	KAP1.1B, HB2A, KAP1.1, KAP1.1A	uc002hvw.1	Q07627	OTTHUMG00000133592	ENST00000306271.4:c.165T>C	17.37:g.39197485A>G			A6NC32|Q96S60|Q96S67	Silent	SNP	ENST00000306271.4	37	CCDS42324.1																																																																																				0.602	KRTAP1-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257696.1	NM_030967		G	39197485	A	G	39197485	2	3	693	1	0	0	0	0	0	0	0	1	8504	157	6	3		3	KRTAP1-1	17	39197485	Silent	SNP	A	TCGA-KL-8324-01A-11D-2310-10	31619205	39197485	41997725	87	38396											
CDC27	996	hgsc.bcm.edu	37	17	45232055	45232055	+	Missense_Mutation	SNP	C	C	T	rs200268612		TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr17:45232055C>T	ENST00000066544.3	-	8	1033	c.940G>A	c.(940-942)Gga>Aga	p.G314R	CDC27_ENST00000528748.1_5'Flank|CDC27_ENST00000527547.1_Missense_Mutation_p.G314R|CDC27_ENST00000446365.2_Missense_Mutation_p.G253R|CDC27_ENST00000531206.1_Missense_Mutation_p.G314R	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	314					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						GAAGGGGCTCCGGTGGATGGC	0.373																																																0													42	42	42					17																	45232055		2203	4300	6503	SO:0001583	missense	996			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.940G>A	17.37:g.45232055C>T	ENSP00000066544:p.Gly314Arg		G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.887899	0.33348	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547;ENST00000526866	T;T;T;T;T	0.66638	-0.2;-0.22;0.08;-0.2;0.98	5.92	5.92	0.95590	.	0.186621	0.46442	D	0.000293	T	0.42245	0.1194	N	0.02539	-0.55	0.52501	D	0.999951	B;B;B;B	0.14012	0.009;0.001;0.002;0.0	B;B;B;B	0.08055	0.003;0.002;0.002;0.001	T	0.41305	-0.9516	10	0.13853	T	0.58	-4.7594	17.8238	0.88658	0.0:1.0:0.0:0.0	.	253;314;314;314	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	R	314;314;253;314;314	ENSP00000066544:G314R;ENSP00000434614:G314R;ENSP00000392802:G253R;ENSP00000437339:G314R;ENSP00000432105:G314R	ENSP00000066544:G314R	G	-	1	0	CDC27	42587054	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.650000	0.67944	2.810000	0.96702	0.585000	0.79938	GGA		0.373	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			T	45232055	C	T	45232055	3	4	693	1	0	0	0	0	1	0	0	0	3068	661	23	1	1600	1	CDC27	17	45232055	Missense_Mutation	SNP	C	TCGA-KL-8324-01A-11D-2310-10	6034570	45232055	35963155	88	38397											
PTRH2	51651	broad.mit.edu;mdanderson.org	37	17	57775085	57775085	+	Silent	SNP	C	C	T			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr17:57775085C>T	ENST00000470557.2	-	1	3701	c.255G>A	c.(253-255)caG>caA	p.Q85Q	PTRH2_ENST00000393038.2_Silent_p.Q85Q|PTRH2_ENST00000579915.1_5'Flank|PTRH2_ENST00000537860.1_Silent_p.Q85Q|PTRH2_ENST00000409433.2_Silent_p.Q86Q			Q9Y3E5	PTH2_HUMAN	peptidyl-tRNA hydrolase 2	85					apoptotic process (GO:0006915)|negative regulation of anoikis (GO:2000811)|negative regulation of gene expression (GO:0010629)|positive regulation of anoikis (GO:2000210)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	aminoacyl-tRNA hydrolase activity (GO:0004045)			large_intestine(1)	1	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					CATGAGAGCACTGGGCAGCCA	0.473																																																0													170	153	159					17																	57775085		2203	4300	6503	SO:0001819	synonymous_variant	51651			AF151905	CCDS11618.1	17q23.2	2014-07-18			ENSG00000141378	ENSG00000141378			24265	protein-coding gene	gene with protein product	"Bcl-2 inhibitor of transcription", "cilia and flagella associated protein 37"	608625				10810093, 15006356, 14660562	Standard	XM_005257447		Approved	BIT1, CGI-147, PTH2, CFAP37	uc002ixt.3	Q9Y3E5	OTTHUMG00000154532	ENST00000470557.2:c.255G>A	17.37:g.57775085C>T			B3KUY4|Q9NTE5	Silent	SNP	ENST00000470557.2	37	CCDS11618.1																																																																																				0.473	PTRH2-003	PUTATIVE	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000448482.1	NM_016077		T	57775085	C	T	57775085	2	4	693	1	0	0	0	0	0	0	0	1	12823	564	20	2		2	PTRH2	17	57775085	Silent	SNP	C	TCGA-KL-8324-01A-11D-2310-10	12543030	57775085	23420125	89	38398											
DNAI2	64446	broad.mit.edu	37	17	72306262	72306262	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr17:72306262T>C	ENST00000311014.6	+	11	1521	c.1454T>C	c.(1453-1455)cTc>cCc	p.L485P	DNAI2_ENST00000307504.5_Missense_Mutation_p.L342P|DNAI2_ENST00000579490.1_Missense_Mutation_p.L542P|AC103809.1_ENST00000516976.1_RNA|RP11-647F2.2_ENST00000585167.1_RNA|DNAI2_ENST00000582036.1_Missense_Mutation_p.L473P|DNAI2_ENST00000446837.2_Missense_Mutation_p.L485P			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	485					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						TCGCCTGGGCTCTCTACCCTC	0.642									Kartagener syndrome																																							0													48	44	45					17																	72306262		2203	4300	6503	SO:0001583	missense	64446	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"Axonemal dyneins", "WD repeat domain containing"	18744	protein-coding gene	gene with protein product	"dynein intermediate chain 2"	605483	"dynein, axonemal, intermediate polypeptide 2"			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000311014.6:c.1454T>C	17.37:g.72306262T>C	ENSP00000308312:p.Leu485Pro		C9J0S6|Q8IUW4|Q9H179|Q9NT53	Missense_Mutation	SNP	ENST00000311014.6	37	CCDS11697.1	.	.	.	.	.	.	.	.	.	.	T	16.08	3.021966	0.54576	.	.	ENSG00000171595	ENST00000311014;ENST00000307504;ENST00000446837	T;T;T	0.38240	1.15;1.15;1.15	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.68742	0.3034	M	0.93283	3.4	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	T	0.78526	-0.2170	10	0.87932	D	0	-37.7517	14.8647	0.70406	0.0:0.0:0.0:1.0	.	485	Q9GZS0	DNAI2_HUMAN	P	485;342;485	ENSP00000308312:L485P;ENSP00000302929:L342P;ENSP00000400252:L485P	ENSP00000302929:L342P	L	+	2	0	DNAI2	69817857	1.000000	0.71417	0.993000	0.49108	0.059000	0.15707	7.728000	0.84847	1.985000	0.57927	0.374000	0.22700	CTC		0.642	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442537.1	NM_023036		C	72306262	T	C	72306262	3	2	693	1	0	0	0	0	1	0	0	0	4612	1551	54	3	1492	3	DNAI2	17	72306262	Missense_Mutation	SNP	T	TCGA-KL-8324-01A-11D-2310-10	14531177	72306262	8888948	90	38399											
PIAS2	9063	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	18	44409771	44409771	+	Missense_Mutation	SNP	T	T	A	rs201382502		TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr18:44409771T>A	ENST00000585916.1	-	10	1261	c.1262A>T	c.(1261-1263)gAt>gTt	p.D421V	PIAS2_ENST00000545673.1_Missense_Mutation_p.D131V|PIAS2_ENST00000324794.7_Missense_Mutation_p.D421V	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT, 2	421					androgen receptor signaling pathway (GO:0030521)|negative regulation of androgen receptor signaling pathway (GO:0060766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|regulation of osteoblast differentiation (GO:0045667)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						CCAAGAACCATCTTCTTGGAA	0.363																																																0													186	188	187					18																	44409771		2203	4300	6503	SO:0001583	missense	9063			AF077953	CCDS32824.1, CCDS32825.1	18q12.1-q12.3	2011-10-11				ENSG00000078043		"Zinc fingers, MIZ-type"	17311	protein-coding gene	gene with protein product	"zinc finger, MIZ-type containing 4"	603567				9724754, 9256341	Standard	NM_004671		Approved	PIASX-BETA, miz, PIASX-ALPHA, ZMIZ4	uc002lck.3	O75928		ENST00000585916.1:c.1262A>T	18.37:g.44409771T>A	ENSP00000465676:p.Asp421Val		O75927|Q96BT5|Q96KE3	Missense_Mutation	SNP	ENST00000585916.1	37	CCDS32824.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.628276	0.87560	.	.	ENSG00000078043	ENST00000398654;ENST00000262161;ENST00000545673;ENST00000324794	T;T	0.60548	0.18;0.71	5.67	5.67	0.87782	.	0.044689	0.85682	D	0.000000	T	0.78317	0.4264	M	0.83603	2.65	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.996;0.996;0.998;0.998	T	0.81961	-0.0693	10	0.87932	D	0	-12.8912	15.9171	0.79527	0.0:0.0:0.0:1.0	.	131;421;421;421	B4DGW0;Q2TA77;O75928-2;O75928	.;.;.;PIAS2_HUMAN	V	421;421;131;421	ENSP00000443238:D131V;ENSP00000317163:D421V	ENSP00000262161:D421V	D	-	2	0	PIAS2	42663769	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.040000	0.89188	2.152000	0.67230	0.455000	0.32223	GAT		0.363	PIAS2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445656.2	NM_004671		A	44409771	T	A	44409771	3	1	693	1	0	0	0	0	1	0	0	0	11878	1435	50	5	698	5	PIAS2	18	44409771	Missense_Mutation	SNP	T	TCGA-KL-8324-01A-11D-2310-10		44409771	33667477	91	38400											
MUC16	94025	mdanderson.org	37	19	8999462	8999462	+	Silent	SNP	C	C	T			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr19:8999462C>T	ENST00000397910.4	-	56	40916	c.40713G>A	c.(40711-40713)ctG>ctA	p.L13571L	MUC16_ENST00000380951.5_Silent_p.L212L	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13573	SEA 10. {ECO:0000255|PROSITE- ProRule:PRU00188}.			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						TCAGCTGGCTCAGCTCCCAGT	0.567																																																0													203	172	182					19																	8999462		2050	4202	6252	SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.40713G>A	19.37:g.8999462C>T			Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																				0.567	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	8999462	C	T	8999462	2	4	693	1	0	0	0	0	0	0	0	1	9975	813	29	2		2	MUC16	19	8999462	Silent	SNP	C	TCGA-KL-8324-01A-11D-2310-10		8999462	50129521	92	38401											
NPHS1	4868	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	19	36340211	36340211	+	Missense_Mutation	SNP	C	C	T	rs149649169		TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr19:36340211C>T	ENST00000378910.5	-	7	766	c.767G>A	c.(766-768)cGg>cAg	p.R256Q	NPHS1_ENST00000353632.6_Missense_Mutation_p.R256Q|NPHS1_ENST00000591817.1_5'Flank	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	256	Ig-like C2-type 3.		R -> W (in NPHS1). {ECO:0000269|PubMed:18503012}.		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)			CTGTCCTGCCCGCACGTGCCC	0.642																																																0								C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	26	25	26		767	1.6	0.6	19	dbSNP_134	26	1,8599	1.2+/-3.3	0,1,4299	no	missense	NPHS1	NM_004646.3	43	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	256/1242	36340211	2,13004	2203	4300	6503	SO:0001583	missense	4868				CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.767G>A	19.37:g.36340211C>T	ENSP00000368190:p.Arg256Gln		A6NDH2|C3RX61	Missense_Mutation	SNP	ENST00000378910.5	37	CCDS32996.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.549572	0.45383	2.27E-4	1.16E-4	ENSG00000161270	ENST00000378910;ENST00000353632	D;D	0.85861	-2.04;-2.04	5.0	1.6	0.23607	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.264240	0.34002	N	0.004352	T	0.78786	0.4338	N	0.25485	0.75	0.09310	N	1	D	0.60575	0.988	P	0.51487	0.671	T	0.69533	-0.5120	10	0.59425	D	0.04	-20.3966	5.9921	0.19472	0.0:0.6721:0.0:0.3279	.	256	O60500	NPHN_HUMAN	Q	256	ENSP00000368190:R256Q;ENSP00000343634:R256Q	ENSP00000343634:R256Q	R	-	2	0	NPHS1	41032051	0.016000	0.18221	0.607000	0.28956	0.210000	0.24377	0.809000	0.27168	0.720000	0.32209	-0.191000	0.12829	CGG		0.642	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1			T	36340211	C	T	36340211	3	4	693	1	0	0	0	0	1	0	0	0	10584	652	23	1	3050	1	NPHS1	19	36340211	Missense_Mutation	SNP	C	TCGA-KL-8324-01A-11D-2310-10	27340749	36340211	22788772	93	38402											
NUCB1	4924	bcgsc.ca	37	19	49416771	49416771	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr19:49416771A>G	ENST00000405315.4	+	7	1041	c.707A>G	c.(706-708)gAt>gGt	p.D236G	NUCB1_ENST00000407032.1_Missense_Mutation_p.D236G|NUCB1_ENST00000263273.5_Missense_Mutation_p.D236G|NUCB1-AS1_ENST00000416432.1_RNA|NUCB1_ENST00000485798.1_Intron	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	236	Binds to GNAI2 and GNAI3. {ECO:0000250}.					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)		GAGGAGCTGGATGGACTGGAC	0.557																																																0													113	91	99					19																	49416771		2203	4300	6503	SO:0001583	missense	4924			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.707A>G	19.37:g.49416771A>G	ENSP00000385923:p.Asp236Gly		B2RD64|Q15838|Q7Z4J7|Q9BUR1	Missense_Mutation	SNP	ENST00000405315.4	37	CCDS12740.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.5|23.5	4.422159|4.422159	0.83559|0.83559	.|.	.|.	ENSG00000104805|ENSG00000104805	ENST00000405315;ENST00000407032;ENST00000452087;ENST00000263273|ENST00000424608	D;D;D|.	0.83914|.	-1.78;-1.78;-1.78|.	4.81|4.81	4.81|4.81	0.61882|0.61882	EF-hand-like domain (1);|.	0.044689|.	0.85682|.	D|.	0.000000|.	T|T	0.79215|0.79215	0.4408|0.4408	M|M	0.89095|0.89095	3.005|3.005	0.80722|0.80722	D|D	1|1	D;D|.	0.63046|.	0.992;0.992|.	P;P|.	0.62382|.	0.901;0.901|.	T|T	0.82892|0.82892	-0.0232|-0.0232	10|5	0.87932|.	D|.	0|.	.|.	13.0021|13.0021	0.58681|0.58681	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	236;236|.	Q02818;Q53GX6|.	NUCB1_HUMAN;.|.	G|V	236|206	ENSP00000385923:D236G;ENSP00000385211:D236G;ENSP00000263273:D236G|.	ENSP00000263273:D236G|.	D|M	+|+	2|1	0|0	NUCB1|NUCB1	54108583|54108583	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	8.805000|8.805000	0.91925|0.91925	2.124000|2.124000	0.65301|0.65301	0.444000|0.444000	0.29173|0.29173	GAT|ATG		0.557	NUCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326545.2	NM_006184		G	49416771	A	G	49416771	3	3	693	1	0	0	0	0	1	0	0	0	10720	333	12	3	729	3	NUCB1	19	49416771	Missense_Mutation	SNP	A	TCGA-KL-8324-01A-11D-2310-10	13076560	49416771	9712212	94	38403											
RCN3	57333	broad.mit.edu	37	19	50031830	50031830	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr19:50031830delT	ENST00000270645.3	+	2	548	c.101delT	c.(100-102)gtgfs	p.V34fs	RCN3_ENST00000593644.1_3'UTR	NM_020650.2	NP_065701.2	Q96D15	RCN3_HUMAN	reticulocalbin 3, EF-hand calcium binding domain	34						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)		CAGGGGAGGGTGCACCAGGCG	0.642																																																0													71	76	74					19																	50031830		2203	4300	6503	SO:0001589	frameshift_variant	57333			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.101delT	19.37:g.50031830delT	ENSP00000270645:p.Val34fs		Q9HBZ8	Frame_Shift_Del	DEL	ENST00000270645.3	37	CCDS12771.1																																																																																				0.642	RCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465261.1	NM_020650		-	50031830	T	-	50031830	7	5	693	1	0	1	0	1	0	0	0	0	13187	1696	59	0	103	0	RCN3	19	50031830	Frame_Shift_Del	DEL	T	TCGA-KL-8324-01A-11D-2310-10	615059	50031830	9097153	95	38404											
PRKCG	5582	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	54394940	54394940	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr19:54394940G>A	ENST00000263431.3	+	6	824	c.542G>A	c.(541-543)cGt>cAt	p.R181H	PRKCG_ENST00000540413.1_Missense_Mutation_p.R181H|PRKCG_ENST00000542049.1_Missense_Mutation_p.R68H|PRKCG_ENST00000536044.1_Missense_Mutation_p.R181H	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	181	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)	GGCGAGGCCCGTAACCTAATT	0.542																																																0													135	129	131					19																	54394940		2203	4300	6503	SO:0001583	missense	5582			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.542G>A	19.37:g.54394940G>A	ENSP00000263431:p.Arg181His		B7Z8Q0	Missense_Mutation	SNP	ENST00000263431.3	37	CCDS12867.1	.	.	.	.	.	.	.	.	.	.	G	19.35	3.811604	0.70797	.	.	ENSG00000126583	ENST00000536044;ENST00000540413;ENST00000263431;ENST00000542049	T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54	5.34	4.3	0.51218	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	.	.	.	.	T	0.73024	0.3534	L	0.46885	1.475	0.49915	D	0.99983	D;P;B;P;P	0.69078	0.997;0.47;0.433;0.526;0.563	P;B;B;B;B	0.55055	0.767;0.027;0.056;0.046;0.101	T	0.73471	-0.3972	9	0.45353	T	0.12	.	12.3369	0.55073	0.083:0.0:0.917:0.0	.	68;181;181;181;181	B7Z8Q0;F5H5C4;B7Z870;B7Z3W6;P05129	.;.;.;.;KPCG_HUMAN	H	181;181;181;68	ENSP00000440541:R181H;ENSP00000443493:R181H;ENSP00000263431:R181H;ENSP00000438090:R68H	ENSP00000263431:R181H	R	+	2	0	PRKCG	59086752	0.750000	0.28316	0.870000	0.34147	0.647000	0.38526	3.353000	0.52247	1.399000	0.46721	0.561000	0.74099	CGT		0.542	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739		A	54394940	G	A	54394940	3	1	693	1	0	0	0	0	1	0	0	0	12517	1145	40	1	564	1	PRKCG	19	54394940	Missense_Mutation	SNP	G	TCGA-KL-8324-01A-11D-2310-10	4363110	54394940	4734043	96	38405											
LILRA4	23547	broad.mit.edu	37	19	54848817	54848817	+	Missense_Mutation	SNP	C	C	T	rs368679017		TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr19:54848817C>T	ENST00000291759.4	-	5	862	c.806G>A	c.(805-807)cGg>cAg	p.R269Q	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	269	Ig-like C2-type 3.				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)		CTGGGGCTGCCGGCCAGGGCG	0.652													C|||	1	0.000199681	0.0	0.0014	5008	,	,		13012	0.0		0.0	False		,,,				2504	0.0															0								C	GLN/ARG	0,4404		0,0,2202	21	24	23		806	-4.7	0	19		23	1,8595		0,1,4297	no	missense	LILRA4	NM_012276.3	43	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	benign	269/500	54848817	1,12999	2202	4298	6500	SO:0001583	missense	23547			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.806G>A	19.37:g.54848817C>T	ENSP00000291759:p.Arg269Gln		Q32MC4	Missense_Mutation	SNP	ENST00000291759.4	37	CCDS12890.1	.	.	.	.	.	.	.	.	.	.	.	0.006	-2.028146	0.00410	0.0	1.16E-4	ENSG00000239961	ENST00000291759	T	0.11385	2.78	2.35	-4.7	0.03288	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	3.635280	0.00754	N	0.001089	T	0.03827	0.0108	N	0.04132	-0.27	0.09310	N	1	B	0.18166	0.026	B	0.09377	0.004	T	0.34900	-0.9810	10	0.02654	T	1	.	5.1701	0.15105	0.304:0.4924:0.0:0.2036	.	269	P59901	LIRA4_HUMAN	Q	269	ENSP00000291759:R269Q	ENSP00000291759:R269Q	R	-	2	0	LILRA4	59540629	0.007000	0.16637	0.000000	0.03702	0.002000	0.02628	0.647000	0.24812	-2.662000	0.00418	-1.532000	0.00920	CGG		0.652	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140229.2	NM_012276		T	54848817	C	T	54848817	3	4	693	1	0	0	0	0	1	0	0	0	8789	652	23	1	709	1	LILRA4	19	54848817	Missense_Mutation	SNP	C	TCGA-KL-8324-01A-11D-2310-10	453877	54848817	4280166	97	38406											
NLRP8	126205	broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	56466067	56466067	+	Missense_Mutation	SNP	G	G	A	rs372844411		TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr19:56466067G>A	ENST00000291971.3	+	3	714	c.643G>A	c.(643-645)Gga>Aga	p.G215R	NLRP8_ENST00000590542.1_Missense_Mutation_p.G215R	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	215	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)		TCCTGGGATCGGAAAAACAAT	0.527																																																0								G	ARG/GLY	0,4406		0,0,2203	86	70	75		643	0.9	0	19		75	1,8599	1.2+/-3.3	0,1,4299	no	missense	NLRP8	NM_176811.2	125	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	215/1049	56466067	1,13005	2203	4300	6503	SO:0001583	missense	126205			AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"Nucleotide-binding domain and leucine rich repeat containing"	22940	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"	609659	"NACHT, leucine rich repeat and PYD containing 8"	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.643G>A	19.37:g.56466067G>A	ENSP00000291971:p.Gly215Arg		Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.275207	0.40194	0.0	1.16E-4	ENSG00000179709	ENST00000291971	D	0.90133	-2.62	2.04	0.899	0.19271	NACHT nucleoside triphosphatase (1);	.	.	.	.	D	0.94450	0.8214	M	0.87971	2.92	0.19775	N	0.999955	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85201	0.1015	9	0.87932	D	0	.	5.4852	0.16745	0.0:0.0:0.6708:0.3292	.	215;215	Q86W28-2;Q86W28	.;NALP8_HUMAN	R	215	ENSP00000291971:G215R	ENSP00000291971:G215R	G	+	1	0	NLRP8	61157879	1.000000	0.71417	0.002000	0.10522	0.061000	0.15899	4.154000	0.58125	0.368000	0.24481	0.514000	0.50259	GGA		0.527	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		A	56466067	G	A	56466067	3	1	693	1	0	0	0	0	1	0	0	0	10485	1117	39	1	653	1	NLRP8	19	56466067	Missense_Mutation	SNP	G	TCGA-KL-8324-01A-11D-2310-10	1617250	56466067	2662916	98	38407											
RASSF2	9770	bcgsc.ca	37	20	4773205	4773205	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr20:4773205T>C	ENST00000379400.3	-	6	551	c.356A>G	c.(355-357)gAc>gGc	p.D119G	RASSF2_ENST00000478553.1_5'UTR|RASSF2_ENST00000379376.2_Missense_Mutation_p.D119G	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	119					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						TGGCATCTGGTCACCCTCCGG	0.537																																					Melanoma(158;1891 3343 50738)											0													73	66	68					20																	4773205		2203	4300	6503	SO:0001583	missense	9770			D79990	CCDS13083.1	20p13	2011-08-12	2008-02-22		ENSG00000101265	ENSG00000101265			9883	protein-coding gene	gene with protein product	"centromere protein 34"	609492				8724849, 15806169	Standard	NM_014737		Approved	KIAA0168, CENP-34	uc002wld.3	P50749	OTTHUMG00000031790	ENST00000379400.3:c.356A>G	20.37:g.4773205T>C	ENSP00000368710:p.Asp119Gly		A6NIX9|A8K5Z3|Q17S06|Q53HD0|Q6AHZ2|Q8IZA5	Missense_Mutation	SNP	ENST00000379400.3	37	CCDS13083.1	.	.	.	.	.	.	.	.	.	.	T	9.762	1.170244	0.21621	.	.	ENSG00000101265	ENST00000379400;ENST00000379376	T;T	0.10099	2.91;2.91	5.29	4.16	0.48862	.	2.250110	0.01224	N	0.008198	T	0.07908	0.0198	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29941	-0.9995	10	0.29301	T	0.29	.	8.9967	0.36057	0.1708:0.0:0.0:0.8292	.	119	P50749	RASF2_HUMAN	G	119	ENSP00000368710:D119G;ENSP00000368684:D119G	ENSP00000368684:D119G	D	-	2	0	RASSF2	4721205	0.074000	0.21230	0.007000	0.13788	0.022000	0.10575	1.774000	0.38573	0.990000	0.38787	0.482000	0.46254	GAC		0.537	RASSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077828.1	NM_014737		C	4773205	T	C	4773205	3	2	693	1	0	0	0	0	1	0	0	0	13092	1667	58	3	652	3	RASSF2	20	4773205	Missense_Mutation	SNP	T	TCGA-KL-8324-01A-11D-2310-10		4773205	58252315	99	38408											
KIAA1755	85449	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	20	36859706	36859706	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr20:36859706C>T	ENST00000279024.4	-	5	2040	c.1769G>A	c.(1768-1770)cGg>cAg	p.R590Q		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	590										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)				AAGCAGGGGCCGCCCGGCCCT	0.637																																																0													46	44	44					20																	36859706		2203	4300	6503	SO:0001583	missense	85449			AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.1769G>A	20.37:g.36859706C>T	ENSP00000279024:p.Arg590Gln		Q9C0A8	Missense_Mutation	SNP	ENST00000279024.4	37	CCDS33467.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.812690	0.90707	.	.	ENSG00000149633	ENST00000279024;ENST00000373398	T	0.68903	-0.36	4.97	4.02	0.46733	.	0.163457	0.27473	N	0.019219	T	0.79718	0.4494	M	0.90019	3.08	0.43579	D	0.995916	D	0.69078	0.997	P	0.54629	0.757	T	0.83267	-0.0045	10	0.54805	T	0.06	.	12.3865	0.55335	0.0:0.9191:0.0:0.0809	.	590	Q5JYT7	K1755_HUMAN	Q	590;137	ENSP00000279024:R590Q	ENSP00000279024:R590Q	R	-	2	0	KIAA1755	36293120	0.995000	0.38212	0.993000	0.49108	0.985000	0.73830	2.737000	0.47393	1.307000	0.44944	0.655000	0.94253	CGG		0.637	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		T	36859706	C	T	36859706	3	4	693	1	0	0	0	0	1	0	0	0	8259	652	23	1	1873	1	KIAA1755	20	36859706	Missense_Mutation	SNP	C	TCGA-KL-8324-01A-11D-2310-10	32086501	36859706	26165814	100	38409											
NTSR1	4923	ucsc.edu	37	20	61340870	61340870	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr20:61340870A>G	ENST00000370501.3	+	1	682	c.311A>G	c.(310-312)cAc>cGc	p.H104R		NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	104					adult locomotory behavior (GO:0008344)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			GTGCATTACCACCTGGGCAGC	0.667																																					GBM(37;400 780 6403 19663 35669)											0													62	55	58					20																	61340870		2203	4300	6503	SO:0001583	missense	4923				CCDS13502.1	20q13	2012-08-08			ENSG00000101188	ENSG00000101188		"GPCR / Class A : Neurotensin receptors"	8039	protein-coding gene	gene with protein product		162651				8075503	Standard	NM_002531		Approved	NTR	uc002ydf.3	P30989	OTTHUMG00000032932	ENST00000370501.3:c.311A>G	20.37:g.61340870A>G	ENSP00000359532:p.His104Arg		Q9H4H1|Q9H4T5	Missense_Mutation	SNP	ENST00000370501.3	37	CCDS13502.1	.	.	.	.	.	.	.	.	.	.	A	16.55	3.154838	0.57259	.	.	ENSG00000101188	ENST00000370501	T	0.72051	-0.62	4.93	4.93	0.64822	GPCR, rhodopsin-like superfamily (1);	0.115441	0.64402	D	0.000019	D	0.83566	0.5282	M	0.78456	2.415	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.85652	0.1283	10	0.62326	D	0.03	-41.695	14.2424	0.65966	1.0:0.0:0.0:0.0	.	104	P30989	NTR1_HUMAN	R	104	ENSP00000359532:H104R	ENSP00000359532:H104R	H	+	2	0	NTSR1	60811315	1.000000	0.71417	1.000000	0.80357	0.014000	0.08584	9.140000	0.94607	1.852000	0.53769	0.459000	0.35465	CAC		0.667	NTSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080061.1			G	61340870	A	G	61340870	3	3	693	1	0	0	0	0	1	0	0	0	10712	159	6	3	313	3	NTSR1	20	61340870	Missense_Mutation	SNP	A	TCGA-KL-8324-01A-11D-2310-10	24481164	61340870	1684650	101	38410											
C21orf45	54069	ucsc.edu;bcgsc.ca	37	21	33642787	33642787	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr21:33642787T>C	ENST00000290130.3	-	3	509	c.455A>G	c.(454-456)tAc>tGc	p.Y152C	MIS18A_ENST00000486363.1_5'UTR	NM_018944.2	NP_061817.1	Q9NYP9	MS18A_HUMAN	MIS18 kinetochore protein A	152					CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)|regulation of DNA methylation (GO:0044030)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7						CGTGCATCTGTACACGTAGCC	0.428																																																0													91	79	83					21																	33642787		2203	4300	6503	SO:0001583	missense	54069			AF231921	CCDS13611.1	21q22.11	2013-10-21	2013-10-21	2011-02-23	ENSG00000159055	ENSG00000159055			1286	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 46", "chromosome 21 open reading frame 45", "MIS18 kinetochore protein homolog A (S. pombe)"	C21orf46, C21orf45		17199038	Standard	NM_018944		Approved	B28, FASP1, hMis18alpha	uc002ypi.3	Q9NYP9	OTTHUMG00000085308	ENST00000290130.3:c.455A>G	21.37:g.33642787T>C	ENSP00000290130:p.Tyr152Cys		B2R562|Q542Z0	Missense_Mutation	SNP	ENST00000290130.3	37	CCDS13611.1	.	.	.	.	.	.	.	.	.	.	T	11.73	1.725511	0.30593	.	.	ENSG00000159055	ENST00000290130	.	.	.	5.78	1.86	0.25419	.	0.146850	0.47455	D	0.000238	T	0.69620	0.3131	M	0.78456	2.415	0.39383	D	0.966298	D	0.89917	1.0	D	0.91635	0.999	T	0.68387	-0.5422	9	0.87932	D	0	-18.7714	4.1683	0.10317	0.3142:0.0849:0.0:0.6008	.	152	Q9NYP9	MS18A_HUMAN	C	152	.	ENSP00000290130:Y152C	Y	-	2	0	MIS18A	32564658	1.000000	0.71417	0.190000	0.23270	0.002000	0.02628	1.856000	0.39389	0.428000	0.26173	-0.451000	0.05528	TAC		0.428	MIS18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000193090.1	NM_018944		C	33642787	T	C	33642787	3	2	693	1	0	0	0	0	1	0	0	0	2128	1638	57	3	258	3	C21orf45	21	33642787	Missense_Mutation	SNP	T	TCGA-KL-8324-01A-11D-2310-10		33642787	14487108	102	38411											
GGT1	2678	mdanderson.org	37	22	25023406	25023406	+	Missense_Mutation	SNP	G	G	A	rs201401901	byFrequency	TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr22:25023406G>A	ENST00000400382.1	+	12	1783	c.1028G>A	c.(1027-1029)cGc>cAc	p.R343H	GGT1_ENST00000404223.1_5'UTR|GGT1_ENST00000404532.1_5'UTR|GGT1_ENST00000248923.4_Missense_Mutation_p.R343H|GGT1_ENST00000400383.1_Missense_Mutation_p.R343H|GGT1_ENST00000403838.1_5'UTR|GGT1_ENST00000404920.1_5'Flank|GGT1_ENST00000406383.2_Missense_Mutation_p.R343H|GGT1_ENST00000466310.1_3'UTR|GGT1_ENST00000400380.1_Missense_Mutation_p.R343H|GGT1_ENST00000401885.1_5'UTR			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	343					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)	CAGGTGGTCCGCAACATGACC	0.642																																																0																																										SO:0001583	missense	2678			M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"CD molecules", "Gamma-glutamyltransferases"	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000400382.1:c.1028G>A	22.37:g.25023406G>A	ENSP00000383232:p.Arg343His		Q08247|Q14404|Q8TBS1|Q9UMK1	Missense_Mutation	SNP	ENST00000400382.1	37	CCDS42992.1	.	.	.	.	.	.	.	.	.	.	.	10.59	1.391735	0.25118	.	.	ENSG00000100031	ENST00000248923;ENST00000412658;ENST00000400382;ENST00000400383;ENST00000400380;ENST00000406383	T;T;T;T;T;T	0.06933	3.24;3.24;3.24;3.24;3.24;3.24	3.4	-6.79	0.01715	.	0.600559	0.16428	N	0.214821	T	0.07143	0.0181	M	0.69463	2.115	0.21740	N	0.999564	B	0.24920	0.114	B	0.18561	0.022	T	0.16897	-1.0387	10	0.33141	T	0.24	-18.4417	7.7103	0.28673	0.5724:0.1197:0.3079:0.0	.	343	P19440	GGT1_HUMAN	H	343	ENSP00000248923:R343H;ENSP00000393537:R343H;ENSP00000383232:R343H;ENSP00000383233:R343H;ENSP00000383231:R343H;ENSP00000385975:R343H	ENSP00000248923:R343H	R	+	2	0	GGT1	23353406	0.007000	0.16637	0.525000	0.27900	0.904000	0.53231	-0.004000	0.12878	-1.203000	0.02652	-0.708000	0.03648	CGC		0.642	GGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250797.1	NM_013430		A	25023406	G	A	25023406	3	1	693	1	0	0	0	0	1	0	0	0	6363	1087	38	1	1058	1	GGT1	22	25023406	Missense_Mutation	SNP	G	TCGA-KL-8324-01A-11D-2310-10		25023406	26281160	103	38412											
TMEM184B	25829	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	22	38621520	38621520	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr22:38621520T>C	ENST00000361906.3	-	7	906	c.698A>G	c.(697-699)tAc>tGc	p.Y233C	TMEM184B_ENST00000361684.4_Missense_Mutation_p.Y233C|TMEM184B_ENST00000504337.1_5'Flank	NM_001195072.1|NM_012264.4	NP_001182001.1|NP_036396.2	Q9Y519	T184B_HUMAN	transmembrane protein 184B	233						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	8	Melanoma(58;0.045)					GGTGGCGAAGTAGAAGAGGAA	0.582																																																0													134	118	123					22																	38621520		2203	4300	6503	SO:0001583	missense	25829			AL096879	CCDS13969.2	22q12	2008-02-04	2007-07-11	2007-07-11	ENSG00000198792	ENSG00000198792			1310	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 5"	C22orf5		10591208	Standard	NM_012264		Approved	HS5O6A, DKFZP586A1024, FM08	uc003avf.1	Q9Y519	OTTHUMG00000030557	ENST00000361906.3:c.698A>G	22.37:g.38621520T>C	ENSP00000355210:p.Tyr233Cys		A8K9D7|Q63HM8|Q7Z421|Q8NBM5|Q9UGT8|Q9UGT9|Q9UGV5	Missense_Mutation	SNP	ENST00000361906.3	37	CCDS13969.2	.	.	.	.	.	.	.	.	.	.	T	28.2	4.899042	0.91962	.	.	ENSG00000198792	ENST00000361906;ENST00000361684	T;T	0.61980	0.06;0.06	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.86768	0.6012	H	0.97491	4.015	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.91444	0.5176	10	0.87932	D	0	-16.9921	16.2303	0.82332	0.0:0.0:0.0:1.0	.	233	Q9Y519	T184B_HUMAN	C	233	ENSP00000355210:Y233C;ENSP00000354441:Y233C	ENSP00000354441:Y233C	Y	-	2	0	TMEM184B	36951466	1.000000	0.71417	0.998000	0.56505	0.942000	0.58702	6.187000	0.72039	2.233000	0.73108	0.533000	0.62120	TAC		0.582	TMEM184B-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075445.4	NM_012264		C	38621520	T	C	38621520	3	2	693	1	0	0	0	0	1	0	0	0	16110	1638	57	3	537	3	TMEM184B	22	38621520	Missense_Mutation	SNP	T	TCGA-KL-8324-01A-11D-2310-10	13598114	38621520	12683046	104	38413											
VCX3A	51481	mdanderson.org	37	X	6451843	6451843	+	Silent	SNP	G	G	A	rs199720302		TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chrX:6451843G>A	ENST00000381089.3	-	3	810	c.504C>T	c.(502-504)agC>agT	p.S168S	VCX3A_ENST00000398729.1_Silent_p.S148S	NM_016379.3	NP_057463.2	Q9NNX9	VCX3_HUMAN	variable charge, X-linked 3A	168	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						CCTCCACCTGGCTCTCCTGAC	0.577																																																0													170	159	163					X																	6451843		2203	4292	6495	SO:0001819	synonymous_variant	51481			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.504C>T	X.37:g.6451843G>A			Q9P0H4	Silent	SNP	ENST00000381089.3	37	CCDS35199.1																																																																																				0.577	VCX3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055679.1	NM_016379		A	6451843	G	A	6451843	2	1	693	1	0	0	0	0	0	0	0	1	17149	1194	42	2		2	VCX3A	23	6451843	Silent	SNP	G	TCGA-KL-8324-01A-11D-2310-10		6451843	148818717	105	38414											
ARHGAP36	158763	broad.mit.edu;mdanderson.org	37	X	130219620	130219620	+	Silent	SNP	C	C	A			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chrX:130219620C>A	ENST00000276211.5	+	8	1359	c.1014C>A	c.(1012-1014)ccC>ccA	p.P338P	ARHGAP36_ENST00000370921.1_Silent_p.P202P|ARHGAP36_ENST00000370922.1_Silent_p.P326P	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	338	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						TGATGCCACCCTGCCACAGTG	0.507																																																0													202	204	203					X																	130219620		2203	4300	6503	SO:0001819	synonymous_variant	158763				CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"Rho GTPase activating proteins"	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.1014C>A	X.37:g.130219620C>A			B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Silent	SNP	ENST00000276211.5	37	CCDS14628.1																																																																																				0.507	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967		A	130219620	C	A	130219620	2	1	693	1	0	0	0	0	0	0	0	1	883	668	24	4		4	ARHGAP36	23	130219620	Silent	SNP	C	TCGA-KL-8324-01A-11D-2310-10	123767777	130219620	25050940	106	38415	295	2									
ARHGAP36	158763	broad.mit.edu	37	X	130219622	130219622	+	Missense_Mutation	SNP	G	G	T			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chrX:130219622G>T	ENST00000276211.5	+	8	1361	c.1016G>T	c.(1015-1017)tGc>tTc	p.C339F	ARHGAP36_ENST00000370921.1_Missense_Mutation_p.C203F|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.C327F	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	339	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)	p.C339Y(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						ATGCCACCCTGCCACAGTGAT	0.512																																																1	Substitution - Missense(1)	kidney(1)											199	200	200					X																	130219622		2203	4300	6503	SO:0001583	missense	158763				CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"Rho GTPase activating proteins"	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.1016G>T	X.37:g.130219622G>T	ENSP00000276211:p.Cys339Phe		B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	ENST00000276211.5	37	CCDS14628.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.507094	0.64410	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000412432;ENST00000370921	T;T;T;T	0.18338	2.22;2.22;2.22;2.22	4.88	4.88	0.63580	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.126831	0.36972	N	0.002302	T	0.36690	0.0976	M	0.84846	2.72	0.58432	D	0.999998	P;P;D	0.53462	0.95;0.95;0.96	P;P;P	0.59424	0.776;0.776;0.857	T	0.36456	-0.9747	10	0.10111	T	0.7	.	12.1001	0.53778	0.0:0.0:1.0:0.0	.	308;327;339	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	F	339;327;308;203	ENSP00000276211:C339F;ENSP00000359960:C327F;ENSP00000408515:C308F;ENSP00000359959:C203F	ENSP00000276211:C339F	C	+	2	0	ARHGAP36	130047303	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.348000	0.90064	2.243000	0.73865	0.600000	0.82982	TGC		0.512	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967		T	130219622	G	T	130219622	3	4	693	1	0	0	0	0	1	0	0	0	883	1319	46	4	1042	4	ARHGAP36	23	130219622	Missense_Mutation	SNP	G	TCGA-KL-8324-01A-11D-2310-10	2	130219622	25050938	107	38416	295	2									
MCF2	4168	broad.mit.edu;mdanderson.org	37	X	138698453	138698453	+	Silent	SNP	A	A	G			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chrX:138698453A>G	ENST00000370576.4	-	9	1388	c.1179T>C	c.(1177-1179)tcT>tcC	p.S393S	MCF2_ENST00000414978.1_Silent_p.S453S|MCF2_ENST00000519895.1_Silent_p.S453S|MCF2_ENST00000483690.1_5'Flank|MCF2_ENST00000370573.4_Silent_p.S393S|MCF2_ENST00000370578.4_Silent_p.S538S|MCF2_ENST00000536274.1_Silent_p.S354S|MCF2_ENST00000338585.6_Silent_p.S393S|MCF2_ENST00000520602.1_Silent_p.S453S	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	393					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)					TAAGCTCAGGAGATAATATTA	0.318																																																0													24	22	23					X																	138698453		2200	4275	6475	SO:0001819	synonymous_variant	4168				CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"Rho guanine nucleotide exchange factors"	6940	protein-coding gene	gene with protein product	"Oncogene MCF2 (oncogene DBL)"	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.1179T>C	X.37:g.138698453A>G			B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Silent	SNP	ENST00000370576.4	37	CCDS14667.1																																																																																				0.318	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369		G	138698453	A	G	138698453	2	3	693	1	0	0	0	0	0	0	0	1	9380	291	11	3		3	MCF2	23	138698453	Silent	SNP	A	TCGA-KL-8324-01A-11D-2310-10	8478831	138698453	16572107	108	38417											
SLC6A8	6535	broad.mit.edu	37	X	152956889	152956889	+	Silent	SNP	C	C	T			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chrX:152956889C>T	ENST00000253122.5	+	3	1001	c.525C>T	c.(523-525)acC>acT	p.T175T	SLC6A8_ENST00000430077.2_Silent_p.T60T	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8	175					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)	GTGGCCACACCTGGAACACTC	0.592																																																0													72	66	68					X																	152956889		2203	4300	6503	SO:0001819	synonymous_variant	6535				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.525C>T	X.37:g.152956889C>T			B2KY47|B4DIA3|E9PFC0|Q13032|Q66I36	Silent	SNP	ENST00000253122.5	37	CCDS14726.1																																																																																				0.592	SLC6A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061003.1			T	152956889	C	T	152956889	2	4	693	1	0	0	0	0	0	0	0	1	14696	668	24	2		2	SLC6A8	23	152956889	Silent	SNP	C	TCGA-KL-8324-01A-11D-2310-10	14258436	152956889	2313671	109	38418											
PRAMEF11	440560	mdanderson.org	37	1	12885127	12885127	+	Silent	SNP	G	G	A	rs201757978	byFrequency	TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr1:12885127G>A	ENST00000535591.1	-	4	1179	c.984C>T	c.(982-984)aaC>aaT	p.N328N	RP5-845O24.8_ENST00000438401.1_lincRNA	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	328					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						GCAGGATGGCGTTGACTTGGG	0.517																																																0													11	8	9					1																	12885127		692	1569	2261	SO:0001819	synonymous_variant	440560			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.984C>T	1.37:g.12885127G>A				Silent	SNP	ENST00000535591.1	37	CCDS53268.1																																																																																				0.517	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		A	12885127	G	A	12885127	2	1	694	1	0	0	0	0	0	0	0	1	12432	1136	40	1		1	PRAMEF11	1	12885127	Silent	SNP	G	TCGA-KL-8325-01A-11D-2310-10		12885127	236365494	1	38419											
CROCC	9696	mdanderson.org	37	1	17277573	17277573	+	Missense_Mutation	SNP	C	C	T	rs3969856		TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr1:17277573C>T	ENST00000375541.5	+	20	3031	c.2962C>T	c.(2962-2964)Cgg>Tgg	p.R988W	CROCC_ENST00000467938.1_Intron	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)		GCGGGAGCAGCGGGCAGCTCA	0.592																																																0													15	16	16					1																	17277573		2201	4293	6494	SO:0001583	missense	9696			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.2962C>T	1.37:g.17277573C>T	ENSP00000364691:p.Arg988Trp			Missense_Mutation	SNP	ENST00000375541.5	37	CCDS30616.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.183903	0.57800	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.23147	1.92	4.83	3.91	0.45181	.	.	.	.	.	T	0.41581	0.1165	L	0.50333	1.59	0.32100	N	0.59074	D;D	0.76494	0.999;0.999	D;D	0.66196	0.942;0.942	T	0.51810	-0.8658	9	0.72032	D	0.01	.	11.1907	0.48683	0.1842:0.8158:0.0:0.0	rs3969856	291;988	Q5TZA2-2;Q5TZA2	.;CROCC_HUMAN	W	988;869	ENSP00000364691:R988W	ENSP00000364691:R988W	R	+	1	2	CROCC	17150160	0.999000	0.42202	1.000000	0.80357	0.970000	0.65996	1.759000	0.38420	1.347000	0.45714	0.556000	0.70494	CGG		0.592	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		T	17277573	C	T	17277573	3	4	694	1	0	0	0	0	1	0	0	0	3895	759	27	1	3040	1	CROCC	1	17277573	Missense_Mutation	SNP	C	TCGA-KL-8325-01A-11D-2310-10	4392446	17277573	231973048	2	38420											
CD52	1043	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	1	26644516	26644516	+	Missense_Mutation	SNP	G	G	A	rs570039509		TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr1:26644516G>A	ENST00000374213.2	+	1	69	c.8G>A	c.(7-9)cGc>cAc	p.R3H	CD52_ENST00000492808.1_3'UTR|UBXN11_ENST00000374222.1_Intron|UBXN11_ENST00000374217.2_Intron	NM_001803.2	NP_001794.2	P31358	CD52_HUMAN	CD52 molecule	3					positive regulation of cytosolic calcium ion concentration (GO:0007204)|respiratory burst (GO:0045730)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				large_intestine(1)	1		all_cancers(24;5.02e-24)|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;7.56e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0137)|READ - Rectum adenocarcinoma(331;0.0649)	Alemtuzumab(DB00087)	AAAATGAAGCGCTTCCTCTTC	0.517													G|||	1	0.000199681	0.0	0.0	5008	,	,		19805	0.0		0.0	False		,,,				2504	0.001															0													260	192	215					1																	26644516		2203	4300	6503	SO:0001583	missense	1043				CCDS30647.1	1p36	2008-02-05	2006-03-28	2005-02-07	ENSG00000169442	ENSG00000169442		"CD molecules"	1804	protein-coding gene	gene with protein product		114280	"CD52 antigen (CAMPATH-1 antigen)"	CDW52		1711975	Standard	NM_001803		Approved		uc001bmc.3	P31358	OTTHUMG00000003491	ENST00000374213.2:c.8G>A	1.37:g.26644516G>A	ENSP00000363330:p.Arg3His		Q5T138|Q9BW46	Missense_Mutation	SNP	ENST00000374213.2	37	CCDS30647.1	.	.	.	.	.	.	.	.	.	.	G	11.30	1.597022	0.28445	.	.	ENSG00000169442	ENST00000374213	T	0.36340	1.26	4.05	2.14	0.27477	.	0.788204	0.10392	N	0.680354	T	0.34454	0.0898	.	.	.	0.23309	N	0.997936	D	0.62365	0.991	P	0.48982	0.597	T	0.13019	-1.0525	9	0.37606	T	0.19	.	5.8326	0.18588	0.1075:0.1951:0.6974:0.0	.	3	P31358	CD52_HUMAN	H	3	ENSP00000363330:R3H	ENSP00000363330:R3H	R	+	2	0	CD52	26517103	0.998000	0.40836	0.985000	0.45067	0.154000	0.21943	1.196000	0.32198	0.642000	0.30620	-0.324000	0.08512	CGC		0.517	CD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009704.1	NM_001803		A	26644516	G	A	26644516	3	1	694	1	0	0	0	0	1	0	0	0	3024	1087	38	1	10	1	CD52	1	26644516	Missense_Mutation	SNP	G	TCGA-KL-8325-01A-11D-2310-10	9366943	26644516	222606105	3	38421											
SPTA1	6708	bcgsc.ca	37	1	158646033	158646033	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr1:158646033T>C	ENST00000368147.4	-	8	1190	c.1010A>G	c.(1009-1011)gAt>gGt	p.D337G		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	337					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)					CTGAGGTGCATCTGAAGGATG	0.463																																																0													214	203	206					1																	158646033		1927	4146	6073	SO:0001583	missense	6708			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.1010A>G	1.37:g.158646033T>C	ENSP00000357129:p.Asp337Gly		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.264331	0.80358	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.37584	1.19;1.19	4.91	4.91	0.64330	.	0.511732	0.14639	N	0.307348	T	0.22551	0.0544	L	0.28400	0.85	0.43381	D	0.995486	B	0.29115	0.233	B	0.39465	0.3	T	0.13442	-1.0509	10	0.56958	D	0.05	.	13.5333	0.61633	0.0:0.0:0.0:1.0	.	337	P02549	SPTA1_HUMAN	G	337	ENSP00000357130:D337G;ENSP00000357129:D337G	ENSP00000357129:D337G	D	-	2	0	SPTA1	156912657	1.000000	0.71417	0.373000	0.26003	0.971000	0.66376	6.818000	0.75257	2.033000	0.60031	0.533000	0.62120	GAT		0.463	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		C	158646033	T	C	158646033	3	2	694	1	0	0	0	0	1	0	0	0	15121	1435	50	3	6429	3	SPTA1	1	158646033	Missense_Mutation	SNP	T	TCGA-KL-8325-01A-11D-2310-10	132001517	158646033	90604588	4	38422											
C1orf129	80133	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	170993854	170993854	+	Missense_Mutation	SNP	A	A	T			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr1:170993854A>T	ENST00000367759.4	+	19	2280	c.2126A>T	c.(2125-2127)aAa>aTa	p.K709I		NM_001163629.1	NP_001157101.1	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	0																	CGTTTGCTCAAAGATGAAAAT	0.353																																																0													67	59	61					1																	170993854		692	1591	2283	SO:0001583	missense	80133			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	ENST00000367759.4:c.2126A>T	1.37:g.170993854A>T	ENSP00000356733:p.Lys709Ile		A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Missense_Mutation	SNP	ENST00000367759.4	37	CCDS53429.1	.	.	.	.	.	.	.	.	.	.	A	15.61	2.885530	0.51908	.	.	ENSG00000117501	ENST00000367759	T	0.67865	-0.29	5.51	0.0654	0.14356	.	.	.	.	.	T	0.22205	0.0535	L	0.27053	0.805	0.09310	N	1	P	0.41524	0.753	B	0.37304	0.246	T	0.07947	-1.0746	9	0.20519	T	0.43	.	2.082	0.03637	0.4381:0.3205:0.0867:0.1547	.	709	F5GWX6	.	I	709	ENSP00000356733:K709I	ENSP00000356733:K709I	K	+	2	0	C1orf129	169260478	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	0.386000	0.20702	0.100000	0.17581	0.533000	0.62120	AAA		0.353	MROH9-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_025063		T	170993854	A	T	170993854	3	4	694	1	0	0	0	0	1	0	0	0	1998	14	1	5	2322	5	C1orf129	1	170993854	Missense_Mutation	SNP	A	TCGA-KL-8325-01A-11D-2310-10	12347821	170993854	78256767	5	38423											
SOX13	9580	broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	204092909	204092909	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr1:204092909A>G	ENST00000367204.1	+	12	1461	c.1352A>G	c.(1351-1353)aAc>aGc	p.N451S		NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	451					anatomical structure morphogenesis (GO:0009653)|regulation of gamma-delta T cell differentiation (GO:0045586)|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)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			GACATGCACAACTCCAGCATC	0.572											OREG0014126	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													62	66	65					1																	204092909		2198	4300	6498	SO:0001583	missense	9580				CCDS44299.1	1q32	2008-07-18			ENSG00000143842	ENSG00000143842		"SRY (sex determining region Y)-boxes"	11192	protein-coding gene	gene with protein product	"islet cell antibody 12", "SRY-related HMG-box gene 13", "type 1 diabetes autoantigen", "SRY-box 13"	604748				10198172	Standard	NM_005686		Approved	Sox-13, ICA12, MGC117216	uc001ham.3	Q9UN79	OTTHUMG00000036050	ENST00000367204.1:c.1352A>G	1.37:g.204092909A>G	ENSP00000356172:p.Asn451Ser	2142	B4E2B0|O95275|O95826|Q3KQV7|Q5SXX1|Q9UHW7	Missense_Mutation	SNP	ENST00000367204.1	37	CCDS44299.1	.	.	.	.	.	.	.	.	.	.	A	28.1	4.886738	0.91814	.	.	ENSG00000143842	ENST00000367204	D	0.98150	-4.75	5.26	5.26	0.73747	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	D	0.98535	0.9511	M	0.77406	2.37	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.83275	0.996;0.996;0.996	D	0.99795	1.1033	10	0.87932	D	0	.	14.8475	0.70270	1.0:0.0:0.0:0.0	.	318;318;451	B4DX26;B4E3N9;Q9UN79	.;.;SOX13_HUMAN	S	451	ENSP00000356172:N451S	ENSP00000356172:N451S	N	+	2	0	SOX13	202359532	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.339000	0.96797	1.991000	0.58162	0.533000	0.62120	AAC		0.572	SOX13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087881.2	NM_005686		G	204092909	A	G	204092909	3	3	694	1	0	0	0	0	1	0	0	0	14950	43	2	3	1394	3	SOX13	1	204092909	Missense_Mutation	SNP	A	TCGA-KL-8325-01A-11D-2310-10	33099055	204092909	45157712	6	38424											
BIRC6	57448	hgsc.bcm.edu	37	2	32718631	32718631	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr2:32718631A>G	ENST00000421745.2	+	45	8499	c.8365A>G	c.(8365-8367)Atg>Gtg	p.M2789V		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2789					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)					TACACAAGCTATGCAAGAATT	0.318																																					Pancreas(94;175 1509 16028 18060 45422)											0													167	167	167					2																	32718631		2203	4300	6503	SO:0001583	missense	57448			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"Baculoviral IAP repeat containing", "Ubiquitin-conjugating enzymes E2"	13516	protein-coding gene	gene with protein product	"apollon"	605638	"baculoviral IAP repeat-containing 6"			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.8365A>G	2.37:g.32718631A>G	ENSP00000393596:p.Met2789Val		Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	A	12.11	1.838356	0.32513	.	.	ENSG00000115760	ENST00000421745	T	0.72835	-0.69	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.53981	0.1830	N	0.14661	0.345	0.45718	D	0.998624	B	0.15141	0.012	B	0.10450	0.005	T	0.50092	-0.8868	10	0.18710	T	0.47	.	15.6548	0.77124	1.0:0.0:0.0:0.0	.	2789	Q9NR09	BIRC6_HUMAN	V	2789	ENSP00000393596:M2789V	ENSP00000393596:M2789V	M	+	1	0	BIRC6	32572135	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.820000	0.75267	2.162000	0.67917	0.377000	0.23210	ATG		0.318	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		G	32718631	A	G	32718631	3	3	694	1	0	0	0	0	1	0	0	0	1438	449	16	3	8543	3	BIRC6	2	32718631	Missense_Mutation	SNP	A	TCGA-KL-8325-01A-11D-2310-10		32718631	210480742	7	38425											
NRP2	8828	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	206605324	206605324	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr2:206605324C>T	ENST00000357785.5	+	8	1259	c.1228C>T	c.(1228-1230)Cgc>Tgc	p.R410C	NRP2_ENST00000360409.3_Missense_Mutation_p.R410C|NRP2_ENST00000540841.1_Missense_Mutation_p.R410C|NRP2_ENST00000540178.1_Missense_Mutation_p.R410C|NRP2_ENST00000355117.4_Missense_Mutation_p.R410C|NRP2_ENST00000417189.1_Missense_Mutation_p.R410C|NRP2_ENST00000412873.2_Missense_Mutation_p.R410C|NRP2_ENST00000357118.4_Missense_Mutation_p.R410C|NRP2_ENST00000272849.3_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																																																1	Substitution - Missense(1)	prostate(1)											127	106	113					2																	206605324		2203	4300	6503	SO:0001583	missense	8828			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		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000357785.5	37	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			T	206605324	C	T	206605324	3	4	694	1	0	0	0	0	1	0	0	0	10663	652	23	1	1258	1	NRP2	2	206605324	Missense_Mutation	SNP	C	TCGA-KL-8325-01A-11D-2310-10	173886693	206605324	36594049	8	38426											
ITGA9	3680	broad.mit.edu	37	3	37523097	37523097	+	Splice_Site	SNP	A	A	G			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr3:37523097A>G	ENST00000264741.5	+	4	799	c.543A>G	c.(541-543)gaA>gaG	p.E181E	ITGA9_ENST00000422441.1_Splice_Site_p.E181E	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	181					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|neutrophil chemotaxis (GO:0030593)|wound healing (GO:0042060)	basal plasma membrane (GO:0009925)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		CTTGCTATGAAGGTGAGCATG	0.542																																																0													211	174	186					3																	37523097		2203	4300	6503	SO:0001630	splice_region_variant	3680			L24158	CCDS2669.1	3p21.3	2010-03-23			ENSG00000144668	ENSG00000144668		"Integrins"	6145	protein-coding gene	gene with protein product	"integrin, alpha 4-like"	603963				8245132, 8290272	Standard	NM_002207		Approved	RLC, ITGA4L, ALPHA-RLC	uc003chd.3	Q13797	OTTHUMG00000130815	ENST00000264741.5:c.544+1A>G	3.37:g.37523097A>G			Q14638	Silent	SNP	ENST00000264741.5	37	CCDS2669.1																																																																																				0.542	ITGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253361.1	NM_002207	Silent	G	37523097	A	G	37523097	5	3	694	1	0	0	0	0	0	0	1	0	7885	86	3	3	557	3	ITGA9	3	37523097	Splice_Site	SNP	A	TCGA-KL-8325-01A-11D-2310-10		37523097	160499333	9	38427											
ROBO2	6092	broad.mit.edu;mdanderson.org;bcgsc.ca	37	3	77526693	77526693	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr3:77526693C>T	ENST00000461745.1	+	3	1417	c.517C>T	c.(517-519)Cga>Tga	p.R173*	ROBO2_ENST00000332191.8_Nonsense_Mutation_p.R173*|ROBO2_ENST00000487694.3_Nonsense_Mutation_p.R189*	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	173	Ig-like C2-type 2.				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)		AGACAAAGTTCGAATTGATGA	0.423																																																0													66	66	66					3																	77526693		1826	4079	5905	SO:0001587	stop_gained	6092			AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10250	protein-coding gene	gene with protein product		602431	"roundabout (axon guidance receptor, Drosophila) homolog 2"			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.517C>T	3.37:g.77526693C>T	ENSP00000417164:p.Arg173*		O43608|Q19AB4|Q19AB5	Nonsense_Mutation	SNP	ENST00000461745.1	37	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	C	37	6.079931	0.97267	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191	.	.	.	5.58	5.58	0.84498	.	0.000000	0.38164	N	0.001783	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	14.7339	0.69402	0.1447:0.8552:0.0:0.0	.	.	.	.	X	189;189;189;173;173	.	ENSP00000327536:R173X	R	+	1	2	ROBO2	77609383	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.043000	0.49823	2.789000	0.95967	0.655000	0.94253	CGA		0.423	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		T	77526693	C	T	77526693	4	4	694	1	0	0	0	0	0	1	0	0	13520	876	31	1	529	1	ROBO2	3	77526693	Nonsense_Mutation	SNP	C	TCGA-KL-8325-01A-11D-2310-10	40003596	77526693	120495737	10	38428											
MCM2	4171	broad.mit.edu	37	3	127317314	127317314	+	Splice_Site	SNP	C	C	T			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr3:127317314C>T	ENST00000265056.7	+	1	249	c.5C>T	c.(4-6)gCg>gTg	p.A2V		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	2	Interaction with KAT7. {ECO:0000250}.				cell cycle (GO:0007049)|cellular response to interleukin-4 (GO:0071353)|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)|nucleosome assembly (GO:0006334)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|MCM complex (GO:0042555)|microtubule cytoskeleton (GO:0015630)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA replication origin binding (GO:0003688)|metal ion binding (GO:0046872)			ovary(3)|skin(2)|stomach(1)	6						ACTGCTATGGCGGTGAGCGCG	0.692																																																0													68	62	64					3																	127317314		2201	4300	6501	SO:0001630	splice_region_variant	4171			X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111			6944	protein-coding gene	gene with protein product	"mitotin"	116945	"minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin)", "MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)"	CCNL1, CDCL1		1710453, 8258304	Standard	NM_004526		Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.6+1C>T	3.37:g.127317314C>T			Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Missense_Mutation	SNP	ENST00000265056.7	37	CCDS3043.1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.902057	0.72754	.	.	ENSG00000073111	ENST00000265056;ENST00000539922;ENST00000543142	T	0.02345	4.33	4.09	4.09	0.47781	.	1.936480	0.03942	U	0.287041	T	0.06735	0.0172	N	0.08118	0	0.50171	D	0.999859	D	0.76494	0.999	D	0.65874	0.939	T	0.44065	-0.9352	10	0.59425	D	0.04	-0.0334	12.1747	0.54178	0.0:1.0:0.0:0.0	.	2	P49736	MCM2_HUMAN	V	2	ENSP00000265056:A2V	ENSP00000265056:A2V	A	+	2	0	MCM2	128800004	1.000000	0.71417	1.000000	0.80357	0.212000	0.24457	4.102000	0.57776	1.998000	0.58463	0.484000	0.47621	GCG		0.692	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1		Missense_Mutation	T	127317314	C	T	127317314	5	4	694	1	0	0	0	0	0	0	1	0	9388	782	27	1	7	1	MCM2	3	127317314	Splice_Site	SNP	C	TCGA-KL-8325-01A-11D-2310-10	49790621	127317314	70705116	11	38429											
MECOM	2122	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	3	168834235	168834235	+	Missense_Mutation	SNP	A	A	C			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr3:168834235A>C	ENST00000464456.1	-	7	2061	c.861T>G	c.(859-861)caT>caG	p.H287Q	MECOM_ENST00000460814.1_Missense_Mutation_p.H287Q|MECOM_ENST00000433243.2_Missense_Mutation_p.H288Q|MECOM_ENST00000264674.3_Missense_Mutation_p.H352Q|MECOM_ENST00000472280.1_Missense_Mutation_p.H288Q|MECOM_ENST00000392736.3_Missense_Mutation_p.H287Q|MECOM_ENST00000468789.1_Missense_Mutation_p.H287Q|MECOM_ENST00000494292.1_Missense_Mutation_p.H475Q	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						GACCAGCAGGATGCCTATTGG	0.493																																																0													328	284	299					3																	168834235		2203	4300	6503	SO:0001583	missense	2122			S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"Zinc fingers, C2H2-type"	3498	protein-coding gene	gene with protein product		165215	"myelodysplasia syndrome 1", "ecotropic viral integration site 1"	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.861T>G	3.37:g.168834235A>C	ENSP00000419770:p.His287Gln		Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000464456.1	37	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	A	13.02	2.111995	0.37242	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	T;T;T;T;T;T;T;T	0.06449	3.36;3.34;3.31;3.45;3.3;3.34;3.3;3.45	6.03	2.42	0.29668	.	0.000000	0.64402	D	0.000001	T	0.17704	0.0425	L	0.57536	1.79	0.53688	D	0.999976	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;0.999	D;D;D;D;D	0.83275	0.996;0.996;0.991;0.996;0.991	T	0.00119	-1.2031	10	0.49607	T	0.09	-13.3669	9.5611	0.39369	0.8039:0.0:0.1961:0.0	.	475;288;475;352;287	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	Q	352;287;287;288;475;287;287;288	ENSP00000264674:H352Q;ENSP00000376493:H287Q;ENSP00000419770:H287Q;ENSP00000420048:H288Q;ENSP00000417899:H475Q;ENSP00000419995:H287Q;ENSP00000420466:H287Q;ENSP00000394302:H288Q	ENSP00000264674:H352Q	H	-	3	2	MECOM	170316929	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.789000	0.47813	0.187000	0.20147	-0.250000	0.11733	CAT		0.493	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		C	168834235	A	C	168834235	3	2	694	1	0	0	0	0	1	0	0	0	9424	330	12	5	2334	5	MECOM	3	168834235	Missense_Mutation	SNP	A	TCGA-KL-8325-01A-11D-2310-10	41516921	168834235	29188195	12	38430											
MCF2L2	23101	broad.mit.edu	37	3	183028733	183028733	+	Silent	SNP	T	T	C			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr3:183028733T>C	ENST00000328913.3	-	9	1260	c.963A>G	c.(961-963)caA>caG	p.Q321Q	MCF2L2_ENST00000447025.2_Silent_p.Q321Q|MCF2L2_ENST00000414362.2_Silent_p.Q321Q|MCF2L2_ENST00000473233.1_Silent_p.Q321Q	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	321							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)			AATGCTGTAGTTGTAGGCACT	0.393																																																0													112	109	110					3																	183028733		2203	4300	6503	SO:0001819	synonymous_variant	23101			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.963A>G	3.37:g.183028733T>C			O94942|Q6P2B8|Q6ZVJ5|Q8N318	Silent	SNP	ENST00000328913.3	37	CCDS3243.1																																																																																				0.393	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078		C	183028733	T	C	183028733	2	2	694	1	0	0	0	0	0	0	0	1	9382	1722	60	3		3	MCF2L2	3	183028733	Silent	SNP	T	TCGA-KL-8325-01A-11D-2310-10	14194498	183028733	14993697	13	38431											
ETV5	2119	broad.mit.edu	37	3	185783822	185783822	+	Silent	SNP	A	A	G			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr3:185783822A>G	ENST00000306376.5	-	8	936	c.690T>C	c.(688-690)ccT>ccC	p.P230P	ETV5_ENST00000434744.1_Silent_p.P230P|ETV5_ENST00000537818.1_Silent_p.P272P|ETV5_ENST00000480706.1_5'Flank	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	230					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)			CTGGCTGAGGAGGGAAGGGGT	0.488			T	"TMPRSS2, SCL45A3"	Prostate																																		Dom	yes		3	3q28	2119	ets variant gene 5		E	0													66	73	71					3																	185783822		2203	4300	6503	SO:0001819	synonymous_variant	2119			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.690T>C	3.37:g.185783822A>G			A6NH46|B7Z7D7|Q6IBN5	Silent	SNP	ENST00000306376.5	37	CCDS33906.1																																																																																				0.488	ETV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344947.1	NM_004454		G	185783822	A	G	185783822	2	3	694	1	0	0	0	0	0	0	0	1	5284	291	11	3		3	ETV5	3	185783822	Silent	SNP	A	TCGA-KL-8325-01A-11D-2310-10	2755089	185783822	12238608	14	38432											
ANKRD17	26057	hgsc.bcm.edu	37	4	73956951	73956951	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr4:73956951C>T	ENST00000358602.4	-	29	6510	c.6394G>A	c.(6394-6396)Gaa>Aaa	p.E2132K	ANKRD17_ENST00000509867.2_Missense_Mutation_p.E2019K|ANKRD17_ENST00000330838.6_Missense_Mutation_p.E1881K	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2132					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)			ATTCTAACTTCCGGGGGAGGA	0.517																																																0													115	121	119					4																	73956951		2203	4300	6503	SO:0001583	missense	26057			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.6394G>A	4.37:g.73956951C>T	ENSP00000351416:p.Glu2132Lys		E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	C	7.126	0.578957	0.13686	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867;ENST00000426917	T;T;T	0.65364	-0.15;-0.12;-0.12	5.17	5.17	0.71159	.	0.392312	0.24368	N	0.039137	T	0.42404	0.1201	N	0.08118	0	0.26174	N	0.979828	B;B;B;B	0.25809	0.135;0.135;0.083;0.008	B;B;B;B	0.21917	0.037;0.037;0.016;0.004	T	0.40421	-0.9564	10	0.48119	T	0.1	.	13.7865	0.63112	0.1532:0.8468:0.0:0.0	.	2131;1881;2132;2019	O75179-2;G5E964;O75179;E7EUV3	.;.;ANR17_HUMAN;.	K	2132;1539;1881;2019;516	ENSP00000351416:E2132K;ENSP00000332265:E1881K;ENSP00000427151:E2019K	ENSP00000332265:E1881K	E	-	1	0	ANKRD17	74175815	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.190000	0.65104	2.694000	0.91930	0.650000	0.86243	GAA		0.517	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		T	73956951	C	T	73956951	3	4	694	1	0	0	0	0	1	0	0	0	646	864	30	2	1441	2	ANKRD17	4	73956951	Missense_Mutation	SNP	C	TCGA-KL-8325-01A-11D-2310-10		73956951	117197325	15	38433											
IRX2	153572	ucsc.edu	37	5	2748604	2748604	+	Silent	SNP	A	A	G			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr5:2748604A>G	ENST00000382611.6	-	3	1466	c.1218T>C	c.(1216-1218)ggT>ggC	p.G406G	IRX2_ENST00000502957.1_5'Flank|IRX2_ENST00000302057.5_Silent_p.G406G	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	406					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		ACCGCAGGAGACCCTGGCCCT	0.721																																																0													30	31	30					5																	2748604		2183	4282	6465	SO:0001819	synonymous_variant	153572			AF319967	CCDS3868.1	5p15.33	2011-06-20	2007-07-13		ENSG00000170561	ENSG00000170561		"Homeoboxes / TALE class"	14359	protein-coding gene	gene with protein product		606198				11435706	Standard	NM_033267		Approved		uc003jdb.3	Q9BZI1	OTTHUMG00000090377	ENST00000382611.6:c.1218T>C	5.37:g.2748604A>G			Q68A19|Q7Z2I7	Silent	SNP	ENST00000382611.6	37	CCDS3868.1																																																																																				0.721	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206749.2			G	2748604	A	G	2748604	2	3	694	1	0	0	0	0	0	0	0	1	7846	262	10	3		3	IRX2	5	2748604	Silent	SNP	A	TCGA-KL-8325-01A-11D-2310-10		2748604	178166656	16	38434											
NIPBL	25836	bcgsc.ca	37	5	37016193	37016193	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr5:37016193T>C	ENST00000282516.8	+	23	5196	c.4697T>C	c.(4696-4698)gTt>gCt	p.V1566A	NIPBL_ENST00000448238.2_Missense_Mutation_p.V1566A	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1566					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)			GAAAATTTTGTTCAAGACCTT	0.378																																																0													101	94	97					5																	37016193		2203	4300	6503	SO:0001583	missense	25836			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"sister chromatid cohesion 2 homolog (yeast)"	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.4697T>C	5.37:g.37016193T>C	ENSP00000282516:p.Val1566Ala		Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.774543	0.90108	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	T;T	0.67698	-0.28;-0.28	5.97	5.97	0.96955	Armadillo-like helical (1);Armadillo-type fold (1);	0.064966	0.64402	D	0.000012	T	0.72930	0.3522	M	0.81802	2.56	0.58432	D	0.999996	P;P	0.45212	0.77;0.853	B;B	0.43536	0.242;0.423	T	0.78275	-0.2267	10	0.87932	D	0	.	16.4534	0.84003	0.0:0.0:0.0:1.0	.	1566;1566	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	A	1566	ENSP00000282516:V1566A;ENSP00000406266:V1566A	ENSP00000282516:V1566A	V	+	2	0	NIPBL	37051950	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.694000	0.84235	2.285000	0.76669	0.477000	0.44152	GTT		0.378	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		C	37016193	T	C	37016193	3	2	694	1	0	0	0	0	1	0	0	0	10430	1725	60	3	4783	3	NIPBL	5	37016193	Missense_Mutation	SNP	T	TCGA-KL-8325-01A-11D-2310-10	34267589	37016193	143899067	17	38435											
SKIV2L2	23517	broad.mit.edu	37	5	54654428	54654428	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr5:54654428T>C	ENST00000230640.5	+	15	1815	c.1561T>C	c.(1561-1563)Tct>Cct	p.S521P	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.S420P	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	521	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				CATTCAGATGTCTGGTCGTGC	0.323																																					Melanoma(2;92 134 23744 29976 33782)											0													97	96	96					5																	54654428		2203	4300	6503	SO:0001583	missense	23517			D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123			18734	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 118"		"KIAA0052"	KIAA0052			Standard	NM_015360		Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.1561T>C	5.37:g.54654428T>C	ENSP00000230640:p.Ser521Pro		Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Missense_Mutation	SNP	ENST00000230640.5	37	CCDS3967.1	.	.	.	.	.	.	.	.	.	.	T	28.7	4.942479	0.92526	.	.	ENSG00000039123	ENST00000230640;ENST00000545714	T;T	0.44083	0.93;0.93	5.96	5.96	0.96718	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.73860	0.3641	M	0.93898	3.47	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.79784	0.943;0.993	T	0.81473	-0.0917	10	0.87932	D	0	-16.8786	16.4484	0.83959	0.0:0.0:0.0:1.0	.	420;521	F5H7E2;P42285	.;SK2L2_HUMAN	P	521;420	ENSP00000230640:S521P;ENSP00000442583:S420P	ENSP00000230640:S521P	S	+	1	0	SKIV2L2	54690185	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.957000	0.87870	2.285000	0.76669	0.533000	0.62120	TCT		0.323	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214108.1			C	54654428	T	C	54654428	3	2	694	1	0	0	0	0	1	0	0	0	14366	1667	58	3	1619	3	SKIV2L2	5	54654428	Missense_Mutation	SNP	T	TCGA-KL-8325-01A-11D-2310-10	17638235	54654428	126260832	18	38436											
SFRS12IP1	285672	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	5	64023984	64023984	+	Missense_Mutation	SNP	C	C	A	rs578186041	byFrequency	TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr5:64023984C>A	ENST00000513458.4	-	4	395	c.228G>T	c.(226-228)aaG>aaT	p.K76N		NM_173829.3	NP_776190.1	Q8N9Q2	SR1IP_HUMAN	SREK1-interacting protein 1	76	Lys-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)		nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(3)|ovary(1)	6						tttctttcttcttttcctctt	0.274																																																0													18	21	20					5																	64023984		2157	4236	6393	SO:0001583	missense	285672			AK094073	CCDS34171.1	5q12.3	2010-09-20	2010-09-20	2010-09-20	ENSG00000153006	ENSG00000153006			26716	protein-coding gene	gene with protein product	"p18 splicing regulatory protein"		"SFRS12-interacting protein 1"	SFRS12IP1		15456940	Standard	NM_173829		Approved	FLJ36754, P18SRP	uc003jtk.3	Q8N9Q2	OTTHUMG00000162291	ENST00000513458.4:c.228G>T	5.37:g.64023984C>A	ENSP00000427401:p.Lys76Asn		Q32NC8	Missense_Mutation	SNP	ENST00000513458.4	37	CCDS34171.1	.	.	.	.	.	.	.	.	.	.	C	14.11	2.437539	0.43224	.	.	ENSG00000153006	ENST00000513458	.	.	.	4.07	3.12	0.35913	.	0.194626	0.53938	D	0.000051	T	0.56963	0.2021	M	0.68593	2.085	0.40136	D	0.976778	B	0.22414	0.069	B	0.19946	0.027	T	0.63747	-0.6567	9	0.72032	D	0.01	-9.3035	9.1429	0.36914	0.0:0.7764:0.2236:0.0	.	76	Q8N9Q2	SR1IP_HUMAN	N	76	.	ENSP00000427401:K76N	K	-	3	2	SREK1IP1	64059740	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.683000	0.37638	2.266000	0.75297	0.655000	0.94253	AAG		0.274	SREK1IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368457.4	NM_173829		A	64023984	C	A	64023984	3	1	694	1	0	0	0	0	1	0	0	0	14174	912	32	4	247	4	SFRS12IP1	5	64023984	Missense_Mutation	SNP	C	TCGA-KL-8325-01A-11D-2310-10	9369556	64023984	116891276	19	38437											
PCDHA8	56140	broad.mit.edu;mdanderson.org	37	5	140221819	140221819	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr5:140221819C>T	ENST00000531613.1	+	1	913	c.913C>T	c.(913-915)Cgg>Tgg	p.R305W	PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.R305W|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	305	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(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)			AATAGTGATTCGGGGTAATTT	0.408																																																0													40	45	43					5																	140221819		2197	4296	6493	SO:0001583	missense	56140			AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"Cadherins / Protocadherins : Clustered"	8674	other	complex locus constituent	"KIAA0345-like 6"	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.913C>T	5.37:g.140221819C>T	ENSP00000434655:p.Arg305Trp		B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.592776	0.66219	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.01767	4.65;4.65	3.69	-3.36	0.04913	Cadherin (4);Cadherin-like (1);	3.067170	0.02200	U	0.062209	T	0.06826	0.0174	L	0.56769	1.78	0.09310	N	1	D;D	0.64830	0.994;0.993	P;P	0.61070	0.883;0.814	T	0.41980	-0.9478	10	0.38643	T	0.18	.	11.8028	0.52137	0.6764:0.2263:0.0973:0.0	.	305;305	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	W	305	ENSP00000434655:R305W;ENSP00000367363:R305W	ENSP00000367363:R305W	R	+	1	2	PCDHA8	140202003	0.000000	0.05858	0.000000	0.03702	0.488000	0.33401	-0.980000	0.03770	-0.560000	0.06102	0.456000	0.33151	CGG		0.408	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		T	140221819	C	T	140221819	3	4	694	1	0	0	0	0	1	0	0	0	11532	875	31	1	915	1	PCDHA8	5	140221819	Missense_Mutation	SNP	C	TCGA-KL-8325-01A-11D-2310-10	76197835	140221819	40693441	20	38438											
FAM184A	79632	broad.mit.edu	37	6	119399412	119399413	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr6:119399412_119399413insC	ENST00000338891.7	-	1	495_496	c.52_53insG	c.(52-54)gccfs	p.A18fs	FAM184A_ENST00000368475.4_Intron|FAM184A_ENST00000352896.5_Intron|FAM184A_ENST00000521531.1_Frame_Shift_Ins_p.A18fs|FAM184A_ENST00000522284.1_Intron	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	18						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						CGCGAATTTGGCCGCCGAGCCG	0.658																																																0																																										SO:0001589	frameshift_variant	79632			BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 60"	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.53dupG	6.37:g.119399414_119399414dupC	ENSP00000342604:p.Ala18fs		B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Frame_Shift_Ins	INS	ENST00000338891.7	37	CCDS43499.1																																																																																				0.658	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581		C	119399413	-	C	119399412	7	5	694	1	0	1	1	0	0	0	0	0	5513	1203	42	0	3441	0	FAM184A	6	119399412	Frame_Shift_Ins	INS	-	TCGA-KL-8325-01A-11D-2310-10		119399412	51715655	21	38439											
FAM20C	56975	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	7	208958	208958	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr7:208958C>T	ENST00000313766.5	+	3	1076	c.845C>T	c.(844-846)gCg>gTg	p.A282V		NM_020223.3	NP_064608.2	Q8IXL6	DMP4_HUMAN	family with sequence similarity 20, member C	282				MTFQNYGQALFKPMK -> FLSDKPFLFLSCFLR (in Ref. 6; CAB99089). {ECO:0000305}.	dentinogenesis (GO:0097187)|enamel mineralization (GO:0070166)|odontoblast differentiation (GO:0071895)|osteoclast maturation (GO:0036179)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|protein phosphorylation (GO:0006468)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of phosphorus metabolic process (GO:0051174)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(2)|urinary_tract(1)	4		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.57e-17)|Epithelial(4;1.26e-16)|all cancers(6;4.79e-14)		TACGGGCAAGCGCTGTTCAAA	0.627																																																0													56	59	58					7																	208958		2062	4183	6245	SO:0001583	missense	56975			BC040074	CCDS47522.1	7p22.3	2012-11-29			ENSG00000177706	ENSG00000177706			22140	protein-coding gene	gene with protein product	"dentin matrix protein 4"	611061				17369251, 17924334	Standard	NM_020223		Approved	IMAGE:4942737, DKFZp547D065, DMP4	uc003sip.3	Q8IXL6	OTTHUMG00000151401	ENST00000313766.5:c.845C>T	7.37:g.208958C>T	ENSP00000322323:p.Ala282Val		A4D2Q5|L8B5W8|Q5I0W9|Q7Z4I0|Q9NPT2	Missense_Mutation	SNP	ENST00000313766.5	37	CCDS47522.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.496368	0.64186	.	.	ENSG00000177706	ENST00000313766	D	0.89617	-2.54	5.23	5.23	0.72850	.	0.300145	0.21112	N	0.079975	D	0.92668	0.7670	L	0.55990	1.75	0.80722	D	1	D	0.89917	1.0	D	0.69479	0.964	D	0.91794	0.5446	10	0.39692	T	0.17	.	17.5659	0.87919	0.0:1.0:0.0:0.0	.	282	Q8IXL6	DMP4_HUMAN	V	282	ENSP00000322323:A282V	ENSP00000322323:A282V	A	+	2	0	FAM20C	304041	1.000000	0.71417	0.958000	0.39756	0.536000	0.34869	4.838000	0.62803	2.439000	0.82584	0.655000	0.94253	GCG		0.627	FAM20C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322476.2	NM_020223		T	208958	C	T	208958	3	4	694	1	0	0	0	0	1	0	0	0	5541	768	27	1	855	1	FAM20C	7	208958	Missense_Mutation	SNP	C	TCGA-KL-8325-01A-11D-2310-10		208958	158929705	22	38440											
FKBP9	11328	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	7	33028128	33028128	+	Silent	SNP	G	G	A			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr7:33028128G>A	ENST00000242209.4	+	6	1072	c.903G>A	c.(901-903)cgG>cgA	p.R301R	AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538443.1_Silent_p.R163R|FKBP9_ENST00000538336.1_Silent_p.R354R|FKBP9_ENST00000490776.2_Silent_p.R69R|FKBP9_ENST00000489038.1_3'UTR	NM_001284343.1|NM_007270.3	NP_001271272.1|NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	301	PPIase FKBP-type 3. {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)			GCTACTCTCGGAACCGCACGT	0.483																																																0													130	118	122					7																	33028128		2203	4300	6503	SO:0001819	synonymous_variant	11328			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.903G>A	7.37:g.33028128G>A			B3KY35|B7Z1G9|B7Z6H3|Q2M2A1|Q3MIR7|Q6IN76|Q6P2N1|Q96EX5|Q96IJ9	Silent	SNP	ENST00000242209.4	37	CCDS5439.1																																																																																				0.483	FKBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215137.1	NM_007270		A	33028128	G	A	33028128	2	1	694	1	0	0	0	0	0	0	0	1	5917	1161	41	2		2	FKBP9	7	33028128	Silent	SNP	G	TCGA-KL-8325-01A-11D-2310-10	32819170	33028128	126110535	23	38441											
UPK3B	80761	hgsc.bcm.edu	37	7	76144557	76144557	+	Missense_Mutation	SNP	C	C	G	rs376925113		TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr7:76144557C>G	ENST00000257632.5	+	4	1080	c.952C>G	c.(952-954)Cgc>Ggc	p.R318G	UPK3B_ENST00000394849.1_Missense_Mutation_p.R263G|UPK3B_ENST00000448265.3_Missense_Mutation_p.R318G|UPK3B_ENST00000443097.2_3'UTR|UPK3B_ENST00000334348.3_3'UTR|UPK3B_ENST00000419923.2_Missense_Mutation_p.R318G			Q9BT76	UPK3B_HUMAN	uroplakin 3B	318					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)				GGAGATGGGGCGCTGGGAGTG	0.697													.|||	1	0.000199681	0.0008	0.0	5008	,	,		14305	0.0		0.0	False		,,,				2504	0.0															0													12	13	13					7																	76144557		2193	4284	6477	SO:0001583	missense	80761			BC004304	CCDS5588.1, CCDS5589.1, CCDS64693.1	7q11.2	2003-07-29			ENSG00000243566	ENSG00000243566			21444	protein-coding gene	gene with protein product	"uroplakin IIIb"	611887				12446744	Standard	XM_005250612		Approved	MGC10902, p35, UPIIIb, FLJ32198	uc003ufq.3	Q9BT76	OTTHUMG00000149929	ENST00000257632.5:c.952C>G	7.37:g.76144557C>G	ENSP00000257632:p.Arg318Gly		A6NHH5|A8K231|A8MZA8|B3KPU5|Q75MM5|Q86W06	Missense_Mutation	SNP	ENST00000257632.5	37	CCDS5588.1	.	.	.	.	.	.	.	.	.	.	.	6.900	0.535551	0.13188	.	.	ENSG00000243566	ENST00000419923;ENST00000448265;ENST00000257632;ENST00000394849	T;T;T;T	0.38560	1.13;1.13;1.13;1.21	2.57	-5.13	0.02884	.	1.939240	0.02462	N	0.086707	T	0.20333	0.0489	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	0.12553	-1.0543	10	0.87932	D	0	-0.2282	1.9041	0.03273	0.1404:0.4598:0.1916:0.2082	.	263;318	Q9BT76-2;Q9BT76	.;UPK3B_HUMAN	G	318;318;318;263	ENSP00000441602:R318G;ENSP00000441284:R318G;ENSP00000257632:R318G;ENSP00000378319:R263G	ENSP00000257632:R318G	R	+	1	0	UPK3B	75982493	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.998000	0.01469	-1.903000	0.01093	-0.676000	0.03789	CGC		0.697	UPK3B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313978.2	NM_030570		G	76144557	C	G	76144557	3	3	694	1	0	0	0	0	1	0	0	0	17016	768	27	4	1050	4	UPK3B	7	76144557	Missense_Mutation	SNP	C	TCGA-KL-8325-01A-11D-2310-10	43116429	76144557	82994106	24	38442											
NKX3-1	4824	broad.mit.edu	37	8	23538897	23538897	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr8:23538897C>T	ENST00000380871.4	-	2	579	c.542G>A	c.(541-543)cGa>cAa	p.R181Q	NKX3-1_ENST00000523261.1_Missense_Mutation_p.R106Q	NM_006167.3	NP_006158.2	Q99801	NKX31_HUMAN	NK3 homeobox 1	181					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|androgen receptor signaling pathway (GO:0030521)|branching involved in prostate gland morphogenesis (GO:0060442)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to drug (GO:0035690)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to steroid hormone stimulus (GO:0071383)|cellular response to tumor necrosis factor (GO:0071356)|dorsal aorta development (GO:0035907)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|heart development (GO:0007507)|male gonad development (GO:0008584)|metanephros development (GO:0001656)|mitotic cell cycle arrest (GO:0071850)|multicellular organismal development (GO:0007275)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of estrogen receptor binding (GO:0071899)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of transcription, DNA-templated (GO:0045892)|pharyngeal system development (GO:0060037)|positive regulation of androgen secretion (GO:2000836)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell death (GO:0010942)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of gene expression (GO:0010628)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein kinase B signaling (GO:0043491)|regulation of transcription, DNA-templated (GO:0006355)|response to testosterone (GO:0033574)|salivary gland development (GO:0007431)|somitogenesis (GO:0001756)|steroid hormone mediated signaling pathway (GO:0043401)	intracellular (GO:0005622)|nucleus (GO:0005634)	androgen receptor activity (GO:0004882)|core promoter binding (GO:0001047)|estrogen receptor activity (GO:0030284)|estrogen receptor binding (GO:0030331)|histone deacetylase binding (GO:0042826)|protein kinase activator activity (GO:0030295)|protein self-association (GO:0043621)|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)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			large_intestine(3)|lung(4)|prostate(5)|skin(2)	14		Prostate(55;0.114)		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)		GAGCTGCTTTCGCTTAGTCTT	0.582																																																0													152	150	151					8																	23538897		2203	4300	6503	SO:0001583	missense	4824				CCDS6042.1, CCDS59095.1	8p21.2	2012-03-09	2007-07-09	2002-10-04	ENSG00000167034	ENSG00000167034		"Homeoboxes / ANTP class : NKL subclass"	7838	protein-coding gene	gene with protein product		602041	"NK homeobox (Drosophila), family 3, A", "NK3 transcription factor related, locus 1 (Drosophila)"	NKX3A		9226374	Standard	NM_006167		Approved	NKX3.1, BAPX2	uc011kzx.2	Q99801	OTTHUMG00000097851	ENST00000380871.4:c.542G>A	8.37:g.23538897C>T	ENSP00000370253:p.Arg181Gln		O15465|Q9H2P4|Q9H2P5|Q9H2P6|Q9H2P7|Q9HBG0	Missense_Mutation	SNP	ENST00000380871.4	37	CCDS6042.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.017281	0.93404	.	.	ENSG00000167034	ENST00000380871;ENST00000300332;ENST00000523261	D;D	0.96396	-4.0;-4.0	5.87	5.87	0.94306	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.56097	D	0.000038	D	0.98353	0.9453	M	0.87269	2.87	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98842	1.0755	10	0.87932	D	0	.	18.0718	0.89410	0.0:1.0:0.0:0.0	.	181	Q99801	NKX31_HUMAN	Q	181;137;106	ENSP00000370253:R181Q;ENSP00000429729:R106Q	ENSP00000300332:R137Q	R	-	2	0	NKX3-1	23594842	0.997000	0.39634	0.997000	0.53966	0.571000	0.35966	7.754000	0.85163	2.941000	0.99782	0.655000	0.94253	CGA		0.582	NKX3-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215141.2			T	23538897	C	T	23538897	3	4	694	1	0	0	0	0	1	0	0	0	10457	884	31	1	166	1	NKX3-1	8	23538897	Missense_Mutation	SNP	C	TCGA-KL-8325-01A-11D-2310-10		23538897	122825125	25	38443											
SCARA5	286133	broad.mit.edu;ucsc.edu;mdanderson.org	37	8	27779572	27779572	+	Silent	SNP	G	G	A			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr8:27779572G>A	ENST00000354914.3	-	4	917	c.432C>T	c.(430-432)ggC>ggT	p.G144G	SCARA5_ENST00000518030.1_Silent_p.G101G|SCARA5_ENST00000380385.2_Intron|SCARA5_ENST00000524352.1_Silent_p.G144G|SCARA5_ENST00000301906.4_Silent_p.G101G	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5	144					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)		GCTGCACTGCGCCCGCCAGCG	0.726																																																0																																										SO:0001819	synonymous_variant	286133			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.432C>T	8.37:g.27779572G>A			Q6UXZ1|Q7Z4A1|Q8N4Z7	Silent	SNP	ENST00000354914.3	37	CCDS6064.1																																																																																				0.726	SCARA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255223.2	NM_173833		A	27779572	G	A	27779572	2	1	694	1	0	0	0	0	0	0	0	1	13886	1074	38	1		1	SCARA5	8	27779572	Silent	SNP	G	TCGA-KL-8325-01A-11D-2310-10	4240675	27779572	118584450	26	38444											
ADAM2	2515	bcgsc.ca	37	8	39694680	39694680	+	Missense_Mutation	SNP	A	A	T			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr8:39694680A>T	ENST00000265708.4	-	2	210	c.107T>A	c.(106-108)aTa>aAa	p.I36K	ADAM2_ENST00000523181.1_5'UTR|ADAM2_ENST00000521880.1_Missense_Mutation_p.I36K|ADAM2_ENST00000379853.2_Missense_Mutation_p.I36K|ADAM2_ENST00000347580.4_Missense_Mutation_p.I36K	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	36					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)		TTCCTTTATTATTGACCGTAT	0.303																																																0													75	75	75					8																	39694680		2203	4297	6500	SO:0001583	missense	2515			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.107T>A	8.37:g.39694680A>T	ENSP00000265708:p.Ile36Lys		P78326|Q9UQQ8	Missense_Mutation	SNP	ENST00000265708.4	37	CCDS34884.1	.	.	.	.	.	.	.	.	.	.	A	0.042	-1.282486	0.01398	.	.	ENSG00000104755	ENST00000347580;ENST00000379853;ENST00000265708;ENST00000521880	T;T;T;T	0.01963	5.15;4.53;5.4;5.36	3.83	-4.84	0.03151	.	.	.	.	.	T	0.01387	0.0045	N	0.16656	0.425	0.09310	N	1	B;B;B;B	0.14012	0.004;0.009;0.004;0.004	B;B;B;B	0.18263	0.021;0.005;0.006;0.021	T	0.48305	-0.9047	8	.	.	.	.	6.1222	0.20159	0.3043:0.0:0.5209:0.1748	.	36;36;36;36	B4DWY7;Q6P2G0;Q99965-2;Q99965	.;.;.;ADAM2_HUMAN	K	36	ENSP00000343854:I36K;ENSP00000369182:I36K;ENSP00000265708:I36K;ENSP00000429352:I36K	.	I	-	2	0	ADAM2	39813837	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.291000	0.02775	-0.975000	0.03546	0.477000	0.44152	ATA		0.303	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464		T	39694680	A	T	39694680	3	4	694	1	0	0	0	0	1	0	0	0	241	449	16	5	2176	5	ADAM2	8	39694680	Missense_Mutation	SNP	A	TCGA-KL-8325-01A-11D-2310-10	11915108	39694680	106669342	27	38445											
DPY19L4	286148	ucsc.edu	37	8	95793373	95793373	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr8:95793373T>C	ENST00000414645.2	+	16	1793	c.1694T>C	c.(1693-1695)gTg>gCg	p.V565A		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	565						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					CCAGATACAGTGGAACTTATG	0.308																																																0													70	74	72					8																	95793373		2203	4296	6499	SO:0001583	missense	286148				CCDS34924.1	8q22.1	2006-11-24			ENSG00000156162	ENSG00000156162			27829	protein-coding gene	gene with protein product		613895					Standard	NM_181787		Approved		uc003ygx.2	Q7Z388	OTTHUMG00000164589	ENST00000414645.2:c.1694T>C	8.37:g.95793373T>C	ENSP00000389630:p.Val565Ala		Q6ZW32|Q6ZW42|Q7Z329	Missense_Mutation	SNP	ENST00000414645.2	37	CCDS34924.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.076103	0.76415	.	.	ENSG00000156162	ENST00000414645	T	0.54675	0.56	5.34	4.16	0.48862	.	0.063541	0.64402	D	0.000008	T	0.67998	0.2953	M	0.76170	2.325	0.47214	D	0.999355	D	0.76494	0.999	D	0.73380	0.98	T	0.65175	-0.6232	10	0.20046	T	0.44	-13.497	12.3442	0.55111	0.0:0.0:0.1412:0.8588	.	565	Q7Z388	D19L4_HUMAN	A	565	ENSP00000389630:V565A	ENSP00000389630:V565A	V	+	2	0	DPY19L4	95862549	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.415000	0.66411	0.833000	0.34828	0.455000	0.32223	GTG		0.308	DPY19L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379339.1	NM_181787		C	95793373	T	C	95793373	3	2	694	1	0	0	0	0	1	0	0	0	4745	1696	59	3	1756	3	DPY19L4	8	95793373	Missense_Mutation	SNP	T	TCGA-KL-8325-01A-11D-2310-10	56098693	95793373	50570649	28	38446											
PRSS3	5646	mdanderson.org	37	9	33796801	33796801	+	Splice_Site	SNP	G	G	A	rs143707562		TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr9:33796801G>A	ENST00000361005.5	+	2	371		c.e2+1		PRSS3_ENST00000379405.3_Splice_Site|RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000429677.3_Splice_Site|PRSS3_ENST00000342836.4_Splice_Site	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3						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)			GCTACAAGACGTAAGTGTGGG	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		18879	0.001		0.0	False		,,,				2504	0.0															0													70	70	70					9																	33796801		2203	4300	6503	SO:0001630	splice_region_variant	5646				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.371+1G>A	9.37:g.33796801G>A			A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	Splice_Site	SNP	ENST00000361005.5	37	CCDS47958.1	.	.	.	.	.	.	.	.	.	.	G	7.509	0.654290	0.14580	.	.	ENSG00000010438	ENST00000361005;ENST00000457896;ENST00000342836;ENST00000429677;ENST00000379405	.	.	.	3.21	2.29	0.28610	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.1922	0.31374	0.1286:0.0:0.8714:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PRSS3	33786801	1.000000	0.71417	0.775000	0.31657	0.032000	0.12392	8.277000	0.89896	0.482000	0.27582	0.306000	0.20318	.		0.597	PRSS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052121.1	NM_002771	Intron	A	33796801	G	A	33796801	5	1	694	1	0	0	0	0	0	0	1	0	12627	1159	40	1	422	1	PRSS3	9	33796801	Splice_Site	SNP	G	TCGA-KL-8325-01A-11D-2310-10		33796801	107416630	29	38447											
UBQLN1	29979	broad.mit.edu	37	9	86322497	86322498	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr9:86322497_86322498insC	ENST00000376395.4	-	1	620_621	c.97_98insG	c.(97-99)gagfs	p.E33fs	UBQLN1_ENST00000257468.7_Frame_Shift_Ins_p.E33fs|RP11-522I20.3_ENST00000531661.1_RNA|RP11-522I20.3_ENST00000524818.1_RNA	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	33					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						GATTTTGGGCTCCGCGGAGGCA	0.673																																					Melanoma(186;1284 2073 12755 14558 18426)											0																																										SO:0001589	frameshift_variant	29979			AF176069	CCDS6663.1, CCDS6664.1	9q22	2013-02-12			ENSG00000135018	ENSG00000135018		"Ubiquilin family"	12508	protein-coding gene	gene with protein product		605046				9303440, 10807547	Standard	NM_013438		Approved	DSK2, PLIC-1, XDRP1, DA41	uc004amv.3	Q9UMX0	OTTHUMG00000020104	ENST00000376395.4:c.98dupG	9.37:g.86322499_86322499dupC	ENSP00000365576:p.Glu33fs		Q5T6J5|Q5T6J9|Q8IXS9|Q8N2Q3|Q9H0T8|Q9H3R4|Q9HAZ5	Frame_Shift_Ins	INS	ENST00000376395.4	37	CCDS6663.1																																																																																				0.673	UBQLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000052834.1	NM_013438		C	86322498	-	C	86322497	7	5	694	1	0	1	1	0	0	0	0	0	16901	1551	54	0	1715	0	UBQLN1	9	86322497	Frame_Shift_Ins	INS	-	TCGA-KL-8325-01A-11D-2310-10	52525696	86322497	54890934	30	38448	296	5									
UBQLN1	29979	broad.mit.edu	37	9	86322500	86322500	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr9:86322500delG	ENST00000376395.4	-	1	618	c.95delC	c.(94-96)gcgfs	p.A32fs	UBQLN1_ENST00000257468.7_Frame_Shift_Del_p.A32fs|RP11-522I20.3_ENST00000531661.1_RNA|RP11-522I20.3_ENST00000524818.1_RNA	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	32					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						TTTGGGCTCCGCGGAGGCAGC	0.672																																					Melanoma(186;1284 2073 12755 14558 18426)											0													14	15	15					9																	86322500		2196	4288	6484	SO:0001589	frameshift_variant	29979			AF176069	CCDS6663.1, CCDS6664.1	9q22	2013-02-12			ENSG00000135018	ENSG00000135018		"Ubiquilin family"	12508	protein-coding gene	gene with protein product		605046				9303440, 10807547	Standard	NM_013438		Approved	DSK2, PLIC-1, XDRP1, DA41	uc004amv.3	Q9UMX0	OTTHUMG00000020104	ENST00000376395.4:c.95delC	9.37:g.86322500delG	ENSP00000365576:p.Ala32fs		Q5T6J5|Q5T6J9|Q8IXS9|Q8N2Q3|Q9H0T8|Q9H3R4|Q9HAZ5	Frame_Shift_Del	DEL	ENST00000376395.4	37	CCDS6663.1																																																																																				0.672	UBQLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000052834.1	NM_013438		-	86322500	G	-	86322500	7	5	694	1	0	1	0	1	0	0	0	0	16901	1087	38	0	1718	0	UBQLN1	9	86322500	Frame_Shift_Del	DEL	G	TCGA-KL-8325-01A-11D-2310-10	3	86322500	54890931	31	38449	296	5									
UBQLN1	29979	bcgsc.ca	37	9	86322501	86322501	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr9:86322501delG	ENST00000376395.4	-	1	617	c.94delC	c.(94-96)ccgfs	p.P32fs	UBQLN1_ENST00000257468.7_Frame_Shift_Del_p.P32fs|RP11-522I20.3_ENST00000531661.1_RNA|RP11-522I20.3_ENST00000524818.1_RNA	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	32					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						TTGGGCTCCGCGGAGGCAGCG	0.672																																					Melanoma(186;1284 2073 12755 14558 18426)											0													14	14	14					9																	86322501		2194	4287	6481	SO:0001589	frameshift_variant	29979			AF176069	CCDS6663.1, CCDS6664.1	9q22	2013-02-12			ENSG00000135018	ENSG00000135018		"Ubiquilin family"	12508	protein-coding gene	gene with protein product		605046				9303440, 10807547	Standard	NM_013438		Approved	DSK2, PLIC-1, XDRP1, DA41	uc004amv.3	Q9UMX0	OTTHUMG00000020104	ENST00000376395.4:c.94delC	9.37:g.86322501delG	ENSP00000365576:p.Pro32fs		Q5T6J5|Q5T6J9|Q8IXS9|Q8N2Q3|Q9H0T8|Q9H3R4|Q9HAZ5	Frame_Shift_Del	DEL	ENST00000376395.4	37	CCDS6663.1																																																																																				0.672	UBQLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000052834.1	NM_013438		-	86322501	G	-	86322501	7	5	694	1	0	1	0	1	0	0	0	0	16901	768	27	0	1719	0	UBQLN1	9	86322501	Frame_Shift_Del	DEL	G	TCGA-KL-8325-01A-11D-2310-10	1	86322501	54890930	32	38450	296	5									
UBQLN1	29979	broad.mit.edu	37	9	86322502	86322505	+	Frame_Shift_Del	DEL	GGAG	GGAG	-	rs201847758		TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	GGAG	GGAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr9:86322502_86322505delGGAG	ENST00000376395.4	-	1	613_616	c.90_93delCTCC	c.(88-93)gcctccfs	p.AS30fs	UBQLN1_ENST00000257468.7_Frame_Shift_Del_p.AS30fs|RP11-522I20.3_ENST00000531661.1_RNA|RP11-522I20.3_ENST00000524818.1_RNA	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	30					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						TGGGCTCCGCGGAGGCAGCGGCCG	0.676																																					Melanoma(186;1284 2073 12755 14558 18426)											0																																										SO:0001589	frameshift_variant	29979			AF176069	CCDS6663.1, CCDS6664.1	9q22	2013-02-12			ENSG00000135018	ENSG00000135018		"Ubiquilin family"	12508	protein-coding gene	gene with protein product		605046				9303440, 10807547	Standard	NM_013438		Approved	DSK2, PLIC-1, XDRP1, DA41	uc004amv.3	Q9UMX0	OTTHUMG00000020104	ENST00000376395.4:c.90_93delCTCC	9.37:g.86322502_86322505delGGAG	ENSP00000365576:p.Ala30fs		Q5T6J5|Q5T6J9|Q8IXS9|Q8N2Q3|Q9H0T8|Q9H3R4|Q9HAZ5	Frame_Shift_Del	DEL	ENST00000376395.4	37	CCDS6663.1																																																																																				0.676	UBQLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000052834.1	NM_013438		-	86322505	GGAG	-	86322502	7	5	694	1	0	1	0	1	0	0	0	0	16901	1103	39	0	1720	0	UBQLN1	9	86322502	Frame_Shift_Del	DEL	GGAG	TCGA-KL-8325-01A-11D-2310-10	1	86322502	54890929	33	38451	296	5									
UBQLN1	29979	bcgsc.ca	37	9	86322503	86322506	+	Frame_Shift_Del	DEL	GGAG	GGAG	-			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	GGAG	GGAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr9:86322503_86322506delGGAG	ENST00000376395.4	-	1	612_615	c.89_92delCTCC	c.(88-93)gctcccfs	p.AP30fs	UBQLN1_ENST00000257468.7_Frame_Shift_Del_p.AP30fs|RP11-522I20.3_ENST00000531661.1_RNA|RP11-522I20.3_ENST00000524818.1_RNA	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	30					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						GGGCTCCGCGGAGGCAGCGGCCGC	0.676																																					Melanoma(186;1284 2073 12755 14558 18426)											0																																										SO:0001589	frameshift_variant	29979			AF176069	CCDS6663.1, CCDS6664.1	9q22	2013-02-12			ENSG00000135018	ENSG00000135018		"Ubiquilin family"	12508	protein-coding gene	gene with protein product		605046				9303440, 10807547	Standard	NM_013438		Approved	DSK2, PLIC-1, XDRP1, DA41	uc004amv.3	Q9UMX0	OTTHUMG00000020104	ENST00000376395.4:c.89_92delCTCC	9.37:g.86322503_86322506delGGAG	ENSP00000365576:p.Ala30fs		Q5T6J5|Q5T6J9|Q8IXS9|Q8N2Q3|Q9H0T8|Q9H3R4|Q9HAZ5	Frame_Shift_Del	DEL	ENST00000376395.4	37	CCDS6663.1																																																																																				0.676	UBQLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000052834.1	NM_013438		-	86322506	GGAG	-	86322503	7	5	694	1	0	1	0	1	0	0	0	0	16901	1174	41	0	1721	0	UBQLN1	9	86322503	Frame_Shift_Del	DEL	GGAG	TCGA-KL-8325-01A-11D-2310-10	1	86322503	54890928	34	38452	296	5									
INVS	27130	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	9	103004868	103004868	+	Silent	SNP	C	C	T			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr9:103004868C>T	ENST00000262457.2	+	7	998	c.813C>T	c.(811-813)gtC>gtT	p.V271V	INVS_ENST00000541287.1_Silent_p.V175V|INVS_ENST00000262456.2_Silent_p.V271V	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	271					embryonic heart tube left/right pattern formation (GO:0060971)|kidney development (GO:0001822)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|pancreas development (GO:0031016)|post-embryonic development (GO:0009791)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				CACAGATTGTCCATCTCCTTT	0.343																																																0													108	110	110					9																	103004868		2203	4300	6503	SO:0001819	synonymous_variant	27130			AF039217	CCDS6746.1, CCDS6747.1	9q31	2013-01-10	2003-08-11		ENSG00000119509	ENSG00000119509		"Ankyrin repeat domain containing"	17870	protein-coding gene	gene with protein product	"nephrocystin 2"	243305	"nephronophthisis 2 (infantile)"	NPHP2		12872123	Standard	NM_014425		Approved		uc004bap.2	Q9Y283	OTTHUMG00000020364	ENST00000262457.2:c.813C>T	9.37:g.103004868C>T			A2A2Y2|Q2NKL0|Q5W0T6|Q8IVX8|Q9BRB9|Q9Y488|Q9Y498	Silent	SNP	ENST00000262457.2	37	CCDS6746.1																																																																																				0.343	INVS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053407.1	NM_014425		T	103004868	C	T	103004868	2	4	694	1	0	0	0	0	0	0	0	1	7789	842	30	2		2	INVS	9	103004868	Silent	SNP	C	TCGA-KL-8325-01A-11D-2310-10	16682365	103004868	38208563	35	38453											
ITGA8	8516	broad.mit.edu;bcgsc.ca	37	10	15719635	15719635	+	Splice_Site	SNP	T	T	C			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr10:15719635T>C	ENST00000378076.3	-	6	985	c.632A>G	c.(631-633)aAt>aGt	p.N211S		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	211					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						AAGGTCTCCATTCTACAAAAC	0.368																																																0													116	107	110					10																	15719635		2203	4300	6503	SO:0001630	splice_region_variant	8516			L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"Integrins"	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.631-1A>G	10.37:g.15719635T>C			B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	37	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	T	13.60	2.285795	0.40394	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.22134	1.97	5.58	4.45	0.53987	.	0.185108	0.64402	N	0.000019	T	0.18923	0.0454	N	0.24115	0.695	0.45035	D	0.998057	P;P	0.48694	0.914;0.86	P;B	0.46825	0.528;0.328	T	0.01464	-1.1348	10	0.49607	T	0.09	.	11.4986	0.50424	0.0:0.0704:0.0:0.9296	.	211;211	F5H818;P53708	.;ITA8_HUMAN	S	211	ENSP00000367316:N211S	ENSP00000367316:N211S	N	-	2	0	ITGA8	15759641	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.590000	0.67530	0.955000	0.37878	0.455000	0.32223	AAT		0.368	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638	Missense_Mutation	C	15719635	T	C	15719635	5	2	694	1	0	0	0	0	0	0	1	0	7884	1507	52	3	2659	3	ITGA8	10	15719635	Splice_Site	SNP	T	TCGA-KL-8325-01A-11D-2310-10		15719635	119815112	36	38454											
ACTA2	59	ucsc.edu	37	10	90701565	90701565	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr10:90701565A>G	ENST00000458208.1	-	5	905	c.431T>C	c.(430-432)cTc>cCc	p.L144P	ACTA2-AS1_ENST00000596007.1_RNA|ACTA2-AS1_ENST00000437930.4_RNA|STAMBPL1_ENST00000371927.3_Intron|ACTA2_ENST00000480297.1_5'UTR|ACTA2_ENST00000224784.6_Missense_Mutation_p.L144P	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN	actin, alpha 2, smooth muscle, aorta	144					glomerular mesangial cell development (GO:0072144)|muscle contraction (GO:0006936)|regulation of blood pressure (GO:0008217)|response to virus (GO:0009615)|vascular smooth muscle contraction (GO:0014829)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|smooth muscle contractile fiber (GO:0030485)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		AGAGGCATAGAGAGACAGCAC	0.532																																																0													60	51	54					10																	90701565		2203	4300	6503	SO:0001583	missense	59			X13839	CCDS7392.1	10q23.31	2014-09-17			ENSG00000107796	ENSG00000107796			130	protein-coding gene	gene with protein product		102620				2398629	Standard	NM_001141945		Approved	ACTSA	uc001kfp.3	P62736	OTTHUMG00000018700	ENST00000458208.1:c.431T>C	10.37:g.90701565A>G	ENSP00000402373:p.Leu144Pro		B2R8A4|P03996|P04108|Q6FI19	Missense_Mutation	SNP	ENST00000458208.1	37	CCDS7392.1	.	.	.	.	.	.	.	.	.	.	A	17.74	3.462891	0.63513	.	.	ENSG00000107796	ENST00000224784;ENST00000458208;ENST00000544901;ENST00000415557;ENST00000458159	D;D;D;D	0.97850	-4.57;-4.57;-3.65;-3.65	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000001	D	0.99420	0.9795	H	0.99940	5	0.80722	D	1	P	0.38642	0.641	P	0.57152	0.814	D	0.97506	1.0063	10	0.87932	D	0	.	14.628	0.68635	1.0:0.0:0.0:0.0	.	144	P62736	ACTA_HUMAN	P	144;144;99;144;144	ENSP00000224784:L144P;ENSP00000402373:L144P;ENSP00000396730:L144P;ENSP00000398239:L144P	ENSP00000224784:L144P	L	-	2	0	ACTA2	90691545	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.395000	0.79876	2.192000	0.70111	0.533000	0.62120	CTC		0.532	ACTA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049264.1	NM_001613		G	90701565	A	G	90701565	3	3	694	1	0	0	0	0	1	0	0	0	192	304	11	3	722	3	ACTA2	10	90701565	Missense_Mutation	SNP	A	TCGA-KL-8325-01A-11D-2310-10	74981930	90701565	44833182	37	38455											
MUC6	4588	mdanderson.org	37	11	1017710	1017710	+	Missense_Mutation	SNP	G	G	T	rs113964902		TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr11:1017710G>T	ENST00000421673.2	-	31	5141	c.5091C>A	c.(5089-5091)caC>caA	p.H1697Q		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1697	Approximate repeats.|Thr-rich.				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)		TGGAGGAAGTGTGTGAATGTA	0.552																																																0								T	GLN/HIS	175,4229	48.2+/-83.0	0,175,2027	827	810	816		5091	-2.9	0	11	dbSNP_132	816	52,8538	4.3+/-15.6	0,52,4243	yes	missense	MUC6	NM_005961.2	24	0,227,6270	TT,TG,GG		0.6054,3.9737,1.747	benign	1697/2440	1017710	227,12767	2202	4295	6497	SO:0001583	missense	4588			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.5091C>A	11.37:g.1017710G>T	ENSP00000406861:p.His1697Gln		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.248714	0.00268	0.039737	0.006054	ENSG00000184956	ENST00000421673	T	0.18657	2.2	1.46	-2.91	0.05631	.	.	.	.	.	T	0.01320	0.0043	N	0.04880	-0.145	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13072	-1.0523	9	0.05525	T	0.97	.	3.8678	0.09024	0.2346:0.0:0.4719:0.2935	.	1697	Q6W4X9	MUC6_HUMAN	Q	1697	ENSP00000406861:H1697Q	ENSP00000406861:H1697Q	H	-	3	2	MUC6	1007710	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-7.346000	0.00038	-4.248000	0.00062	-3.681000	0.00024	CAC		0.552	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		T	1017710	G	T	1017710	3	4	694	1	0	0	0	0	1	0	0	0	9982	1368	48	4	2240	4	MUC6	11	1017710	Missense_Mutation	SNP	G	TCGA-KL-8325-01A-11D-2310-10		1017710	133988806	38	38456											
MMP26	56547	ucsc.edu	37	11	5010912	5010912	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr11:5010912A>G	ENST00000380390.1	+	3	350	c.134A>G	c.(133-135)gAg>gGg	p.E45G	MMP26_ENST00000300762.1_Missense_Mutation_p.E45G|MMP26_ENST00000477339.1_3'UTR			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	45					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)	ACCAAGAAGGAGTCGCCACTC	0.463																																																0													58	50	53					11																	5010912		2201	4298	6499	SO:0001583	missense	56547			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.134A>G	11.37:g.5010912A>G	ENSP00000369753:p.Glu45Gly		Q3MJ78|Q9GZS2|Q9NR87	Missense_Mutation	SNP	ENST00000380390.1	37	CCDS7752.1	.	.	.	.	.	.	.	.	.	.	A	14.73	2.621616	0.46736	.	.	ENSG00000167346	ENST00000380390;ENST00000300762	T;T	0.38077	1.16;1.16	3.73	2.56	0.30785	Metallopeptidase, catalytic domain (1);	40.292300	0.00166	U	0.000011	T	0.32734	0.0839	L	0.50333	1.59	0.09310	N	1	P	0.43477	0.808	B	0.33799	0.17	T	0.31641	-0.9936	10	0.59425	D	0.04	-8.2391	7.0247	0.24934	0.7669:0.2331:0.0:0.0	.	45	Q9NRE1	MMP26_HUMAN	G	45	ENSP00000369753:E45G;ENSP00000300762:E45G	ENSP00000300762:E45G	E	+	2	0	MMP26	4967488	0.446000	0.25665	0.120000	0.21714	0.348000	0.29142	0.970000	0.29383	0.309000	0.22966	0.455000	0.32223	GAG		0.463	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142058.3	NM_021801		G	5010912	A	G	5010912	3	3	694	1	0	0	0	0	1	0	0	0	9665	304	11	3	140	3	MMP26	11	5010912	Missense_Mutation	SNP	A	TCGA-KL-8325-01A-11D-2310-10	3993202	5010912	129995604	39	38457											
MRGPRX3	117195	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	11	18159150	18159150	+	Missense_Mutation	SNP	G	G	A	rs139790666	byFrequency	TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr11:18159150G>A	ENST00000396275.2	+	3	762	c.401G>A	c.(400-402)cGc>cAc	p.R134H		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	134						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						CACTGCCGCCGCCCCAGATAC	0.572													g|||	2	0.000399361	0.0	0.0	5008	,	,		19932	0.0		0.002	False		,,,				2504	0.0															0								G	HIS/ARG	1,4399	2.1+/-5.4	0,1,2199	118	111	113		401	-2.9	0	11	dbSNP_134	113	4,8582	3.7+/-12.6	0,4,4289	yes	missense	MRGPRX3	NM_054031.3	29	0,5,6488	AA,AG,GG		0.0466,0.0227,0.0385	probably-damaging	134/323	18159150	5,12981	2200	4293	6493	SO:0001583	missense	117195				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.401G>A	11.37:g.18159150G>A	ENSP00000379571:p.Arg134His		B0M0L1|Q8TDE0|Q8TDE1	Missense_Mutation	SNP	ENST00000396275.2	37	CCDS7830.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	13.44	2.237392	0.39498	2.27E-4	4.66E-4	ENSG00000179826	ENST00000396275;ENST00000531264	T;T	0.39787	1.06;1.06	1.46	-2.9	0.05648	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000005	T	0.58293	0.2112	M	0.90252	3.1	0.09310	N	0.999997	D	0.55800	0.973	P	0.60068	0.868	T	0.54649	-0.8262	10	0.62326	D	0.03	.	7.087	0.25264	0.3591:0.0:0.6409:0.0	.	134	Q96LB0	MRGX3_HUMAN	H	134	ENSP00000379571:R134H;ENSP00000436242:R134H	ENSP00000379571:R134H	R	+	2	0	MRGPRX3	18115726	0.029000	0.19370	0.002000	0.10522	0.003000	0.03518	2.129000	0.42055	-0.874000	0.04027	-1.179000	0.01719	CGC		0.572	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389767.1	NM_054031		A	18159150	G	A	18159150	3	1	694	1	0	0	0	0	1	0	0	0	9770	1087	38	1	403	1	MRGPRX3	11	18159150	Missense_Mutation	SNP	G	TCGA-KL-8325-01A-11D-2310-10	13148238	18159150	116847366	40	38458											
OR5M1	390168	broad.mit.edu	37	11	56380362	56380363	+	Frame_Shift_Del	DEL	TT	TT	-	rs186713638	byFrequency	TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	TT	TT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr11:56380362_56380363delTT	ENST00000526538.1	-	1	615_616	c.616_617delAA	c.(616-618)aatfs	p.N206fs		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	206						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						GCTTGAGAGATTAAAGCCTGCA	0.441																																																0																																										SO:0001589	frameshift_variant	390168			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.616_617delAA	11.37:g.56380362_56380363delTT	ENSP00000435416:p.Asn206fs		Q6IF60|Q96RB6	Frame_Shift_Del	DEL	ENST00000526538.1	37	CCDS53631.1																																																																																				0.441	OR5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391610.1	NM_001004740		-	56380363	TT	-	56380362	7	5	694	1	0	1	0	1	0	0	0	0	11174	1493	52	0	334	0	OR5M1	11	56380362	Frame_Shift_Del	DEL	TT	TCGA-KL-8325-01A-11D-2310-10	38221212	56380362	78626154	41	38459											
NCAPD3	23310	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	11	134073605	134073605	+	Missense_Mutation	SNP	C	C	T	rs146266771	byFrequency	TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr11:134073605C>T	ENST00000534548.2	-	11	1476	c.1412G>A	c.(1411-1413)tGt>tAt	p.C471Y		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	471					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)		CAACTCCAGACAGTGTGCAAA	0.488																																																0													62	61	62					11																	134073605		2201	4297	6498	SO:0001583	missense	23310			AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.1412G>A	11.37:g.134073605C>T	ENSP00000433681:p.Cys471Tyr		A6NFS2|Q4KMQ9	Missense_Mutation	SNP	ENST00000534548.2	37	CCDS31723.1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.369032	0.61624	.	.	ENSG00000151503	ENST00000534548	T	0.65178	-0.14	5.88	4.96	0.65561	Armadillo-like helical (1);Armadillo-type fold (1);	0.085655	0.85682	D	0.000000	T	0.70228	0.3200	M	0.76328	2.33	0.80722	D	1	D	0.59357	0.985	P	0.49528	0.614	T	0.72290	-0.4337	10	0.37606	T	0.19	-15.444	17.0555	0.86532	0.0:0.873:0.127:0.0	.	471	P42695	CNDD3_HUMAN	Y	471	ENSP00000433681:C471Y	ENSP00000431612:C471Y	C	-	2	0	NCAPD3	133578815	1.000000	0.71417	0.737000	0.30932	0.704000	0.40688	6.297000	0.72757	1.461000	0.47929	0.655000	0.94253	TGT		0.488	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		T	134073605	C	T	134073605	3	4	694	1	0	0	0	0	1	0	0	0	10208	478	17	2	3184	2	NCAPD3	11	134073605	Missense_Mutation	SNP	C	TCGA-KL-8325-01A-11D-2310-10	77693243	134073605	932911	42	38460											
CACNA1C	775	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	12	2783696	2783696	+	Silent	SNP	C	C	T			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr12:2783696C>T	ENST00000344100.3	+	39	4839	c.4839C>T	c.(4837-4839)ttC>ttT	p.F1613F	CACNA1C_ENST00000399617.1_Intron|CACNA1C_ENST00000399644.1_Intron|CACNA1C_ENST00000399641.1_Intron|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000402845.3_Silent_p.F1591F|CACNA1C_ENST00000347598.4_Intron|CACNA1C_ENST00000399606.1_Intron|CACNA1C_ENST00000399595.1_Silent_p.F1580F|CACNA1C_ENST00000399637.1_Silent_p.F1591F|CACNA1C_ENST00000406454.3_Intron|CACNA1C_ENST00000335762.5_Intron|CACNA1C_ENST00000399603.1_Intron|CACNA1C_ENST00000399597.1_Intron|CACNA1C_ENST00000399591.1_Silent_p.F1580F|CACNA1C_ENST00000399601.1_Intron|CACNA1C_ENST00000327702.7_Intron|CACNA1C_ENST00000399621.1_Silent_p.F1591F|CACNA1C_ENST00000399634.1_Intron|CACNA1C_ENST00000399655.1_Intron|CACNA1C_ENST00000399649.1_Silent_p.F1578F|CACNA1C_ENST00000399638.1_Intron|CACNA1C_ENST00000399629.1_Intron|CACNA1C-AS2_ENST00000545526.1_RNA			Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1623					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AGGATCCTTTCCGCCCTGCAG	0.602																																																0													19	25	23					12																	2783696		2155	4255	6410	SO:0001819	synonymous_variant	775			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000344100.3:c.4839C>T	12.37:g.2783696C>T			B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	ENST00000344100.3	37	CCDS44792.1																																																																																				0.602	CACNA1C-021	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317040.1	NM_000719		T	2783696	C	T	2783696	2	4	694	1	0	0	0	0	0	0	0	1	2542	854	30	2		2	CACNA1C	12	2783696	Silent	SNP	C	TCGA-KL-8325-01A-11D-2310-10		2783696	131068199	43	38461											
APOBEC1	339	broad.mit.edu;mdanderson.org	37	12	7802197	7802197	+	Silent	SNP	C	C	T			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr12:7802197C>T	ENST00000229304.4	-	5	677	c.657G>A	c.(655-657)ccG>ccA	p.P219P		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	219					cellular response to insulin stimulus (GO:0032869)|cytidine deamination (GO:0009972)|cytidine to uridine editing (GO:0016554)|defense response to virus (GO:0051607)|DNA demethylation (GO:0080111)|gene expression (GO:0010467)|lipid metabolic process (GO:0006629)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein transport (GO:0042953)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to osmotic stress (GO:0006970)|response to zinc ion (GO:0010043)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	AU-rich element binding (GO:0017091)|cytidine deaminase activity (GO:0004126)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						GGATGTGTGGCGGAATCGTTT	0.408																																					Pancreas(135;929 1826 4531 10527 41012)											0													177	160	166					12																	7802197		2203	4300	6503	SO:0001819	synonymous_variant	339			U72891	CCDS8579.1	12p13.1	2007-02-01			ENSG00000111701	ENSG00000111701		"Apolipoprotein B mRNA editing enzymes"	604	protein-coding gene	gene with protein product		600130					Standard	XM_005253355		Approved	BEDP, CDAR1, APOBEC-1, HEPR	uc001qtb.3	P41238	OTTHUMG00000141288	ENST00000229304.4:c.657G>A	12.37:g.7802197C>T			Q9UE64|Q9UM71	Silent	SNP	ENST00000229304.4	37	CCDS8579.1																																																																																				0.408	APOBEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280523.1	NM_001644		T	7802197	C	T	7802197	2	4	694	1	0	0	0	0	0	0	0	1	787	755	27	1		1	APOBEC1	12	7802197	Silent	SNP	C	TCGA-KL-8325-01A-11D-2310-10	5018501	7802197	126049698	44	38462											
PRH2	5555	broad.mit.edu	37	12	11083460	11083461	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr12:11083460_11083461insC	ENST00000396400.3	+	3	338_339	c.300_301insC	c.(301-303)cccfs	p.P101fs	PRR4_ENST00000536668.1_Intron|PRH2_ENST00000381847.3_Frame_Shift_Ins_p.P101fs	NM_001110213.1	NP_001103683.1	P02810	PRPC_HUMAN	proline-rich protein HaeIII subfamily 2	101						extracellular space (GO:0005615)				breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	13						AGGGAGGCCATCCCCCTCCTCC	0.644																																																0																																										SO:0001589	frameshift_variant	5555				CCDS8636.1	12p13.2	2012-10-02				ENSG00000134551			9367	protein-coding gene	gene with protein product	"parotid proline-rich protein", "acidic salivary proline-rich protein, HaeIII type, 2"	168790				3009472	Standard	NM_005042		Approved	Pr	uc001qzi.4	P02810		ENST00000396400.3:c.305dupC	12.37:g.11083465_11083465dupC	ENSP00000379682:p.Pro101fs		A2VCM0|A3KN66|A5D902|B2RMW2|Q4VBP2|Q53XA2|Q6P2F6	Frame_Shift_Ins	INS	ENST00000396400.3	37	CCDS8636.1																																																																																				0.644	PRH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400231.1	NM_001110213		C	11083461	-	C	11083460	7	5	694	1	0	1	1	0	0	0	0	0	12488	1432	50	0	310	0	PRH2	12	11083460	Frame_Shift_Ins	INS	-	TCGA-KL-8325-01A-11D-2310-10	3281263	11083460	122768435	45	38463											
TAS2R30	259293	mdanderson.org	37	12	11286797	11286797	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr12:11286797A>G	ENST00000539585.1	-	1	446	c.47T>C	c.(46-48)aTa>aCa	p.I16T	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_001097643.1	NP_001091112.1	P59541	T2R30_HUMAN	taste receptor, type 2, member 30	16					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)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						AATAACAAATATAACCACTAT	0.328																																																0													37	36	36					12																	11286797		1857	4109	5966	SO:0001583	missense	259293			AX097746, AF494233	CCDS53750.1	12p13.2	2012-08-22				ENSG00000256188		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	19112	protein-coding gene	gene with protein product		613963	"taste receptor, type 2, member 47"	TAS2R47			Standard	NM_001097643		Approved	T2R30	uc009zhs.1	P59541		ENST00000539585.1:c.47T>C	12.37:g.11286797A>G	ENSP00000444736:p.Ile16Thr		Q645X7	Missense_Mutation	SNP	ENST00000539585.1	37	CCDS53750.1	.	.	.	.	.	.	.	.	.	.	-	3.387	-0.125111	0.06795	.	.	ENSG00000256188	ENST00000539585	T	0.43294	0.95	3.32	-6.27	0.02026	.	.	.	.	.	T	0.17323	0.0416	N	0.16307	0.4	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.20638	-1.0269	9	0.21540	T	0.41	.	1.1532	0.01790	0.4816:0.113:0.1571:0.2483	.	16	P59541	T2R30_HUMAN	T	16	ENSP00000444736:I16T	ENSP00000444736:I16T	I	-	2	0	TAS2R30	11178064	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-0.252000	0.08806	-0.959000	0.03618	-0.756000	0.03474	ATA		0.328	TAS2R30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400238.1	NM_001097643		G	11286797	A	G	11286797	3	3	694	1	0	0	0	0	1	0	0	0	15578	449	16	3	916	3	TAS2R30	12	11286797	Missense_Mutation	SNP	A	TCGA-KL-8325-01A-11D-2310-10	203337	11286797	122565098	46	38464	297	2	1	67		3	2	24	N	T_A	4.903497e-05
TAS2R30	259293	mdanderson.org	37	12	11286807	11286807	+	Missense_Mutation	SNP	T	T	C	rs113282241		TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr12:11286807T>C	ENST00000539585.1	-	1	436	c.37A>G	c.(37-39)Ata>Gta	p.I13V	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_001097643.1	NP_001091112.1	P59541	T2R30_HUMAN	taste receptor, type 2, member 30	13					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)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						ATAACCACTATTAGAATGGAA	0.333																																																0													34	32	33					12																	11286807		1831	4096	5927	SO:0001583	missense	259293			AX097746, AF494233	CCDS53750.1	12p13.2	2012-08-22				ENSG00000256188		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	19112	protein-coding gene	gene with protein product		613963	"taste receptor, type 2, member 47"	TAS2R47			Standard	NM_001097643		Approved	T2R30	uc009zhs.1	P59541		ENST00000539585.1:c.37A>G	12.37:g.11286807T>C	ENSP00000444736:p.Ile13Val		Q645X7	Missense_Mutation	SNP	ENST00000539585.1	37	CCDS53750.1	.	.	.	.	.	.	.	.	.	.	-	0.010	-1.759083	0.00657	.	.	ENSG00000256188	ENST00000539585	T	0.37058	1.22	3.32	-6.48	0.01896	.	.	.	.	.	T	0.11067	0.0270	N	0.10707	0.03	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.34254	-0.9836	9	0.05351	T	0.99	.	3.7014	0.08384	0.4494:0.2835:0.0:0.2671	.	13	P59541	T2R30_HUMAN	V	13	ENSP00000444736:I13V	ENSP00000444736:I13V	I	-	1	0	TAS2R30	11178074	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-6.625000	0.00059	-0.746000	0.04766	-1.972000	0.00464	ATA		0.333	TAS2R30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400238.1	NM_001097643		C	11286807	T	C	11286807	3	2	694	1	0	0	0	0	1	0	0	0	15578	1493	52	3	926	3	TAS2R30	12	11286807	Missense_Mutation	SNP	T	TCGA-KL-8325-01A-11D-2310-10	10	11286807	122565088	47	38465	297	2	1	67		3	2	24	N	T_A	4.903497e-05
TAS2R30	259293	mdanderson.org	37	12	11286820	11286820	+	Silent	SNP	A	A	T	rs111958076		TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr12:11286820A>T	ENST00000539585.1	-	1	423	c.24T>A	c.(22-24)atT>atA	p.I8I	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_001097643.1	NP_001091112.1	P59541	T2R30_HUMAN	taste receptor, type 2, member 30	8					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)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						GAATGGAAAAAATGATGGGCA	0.328																																																0													30	28	29					12																	11286820		1816	4079	5895	SO:0001819	synonymous_variant	259293			AX097746, AF494233	CCDS53750.1	12p13.2	2012-08-22				ENSG00000256188		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	19112	protein-coding gene	gene with protein product		613963	"taste receptor, type 2, member 47"	TAS2R47			Standard	NM_001097643		Approved	T2R30	uc009zhs.1	P59541		ENST00000539585.1:c.24T>A	12.37:g.11286820A>T			Q645X7	Silent	SNP	ENST00000539585.1	37	CCDS53750.1																																																																																				0.328	TAS2R30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400238.1	NM_001097643		T	11286820	A	T	11286820	2	4	694	1	0	0	0	0	0	0	0	1	15578	10	1	5		5	TAS2R30	12	11286820	Silent	SNP	A	TCGA-KL-8325-01A-11D-2310-10	13	11286820	122565075	48	38466			1	67		3	2	24	N	T_A	4.903497e-05
PCDH20	64881	broad.mit.edu;mdanderson.org	37	13	61989199	61989199	+	Silent	SNP	T	T	G			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr13:61989199T>G	ENST00000409186.1	-	4	2198	c.93A>C	c.(91-93)ctA>ctC	p.L31L	PCDH20_ENST00000409204.4_Silent_p.L31L			Q8N6Y1	PCD20_HUMAN	protocadherin 20	31					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)		TGGGACGATGTAGACGCCCCA	0.642																																																0													33	28	30					13																	61989199		2203	4298	6501	SO:0001819	synonymous_variant	64881			AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"Cadherins / Protocadherins : Non-clustered"	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.93A>C	13.37:g.61989199T>G			A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Silent	SNP	ENST00000409186.1	37	CCDS9442.2																																																																																				0.642	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		G	61989199	T	G	61989199	2	3	694	1	0	0	0	0	0	0	0	1	11517	1625	57	5		5	PCDH20	13	61989199	Silent	SNP	T	TCGA-KL-8325-01A-11D-2310-10		61989199	53180679	49	38467											
PLEKHH1	57475	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	14	68052685	68052685	+	Nonsense_Mutation	SNP	C	C	A			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr14:68052685C>A	ENST00000329153.5	+	28	3936	c.3804C>A	c.(3802-3804)taC>taA	p.Y1268*	PLEKHH1_ENST00000417684.2_Nonsense_Mutation_p.Y133*	NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	1268	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoskeleton (GO:0005856)				endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		ACATCACTTACCCCTACTCTT	0.498																																																0													250	248	249					14																	68052685		2023	4187	6210	SO:0001587	stop_gained	57475			AB033026	CCDS45128.1	14q24.1	2013-01-10				ENSG00000054690		"Pleckstrin homology (PH) domain containing"	17733	protein-coding gene	gene with protein product						10574462	Standard	NM_020715		Approved	KIAA1200	uc001xjl.1	Q9ULM0		ENST00000329153.5:c.3804C>A	14.37:g.68052685C>A	ENSP00000330278:p.Tyr1268*		A6H8X6|Q6PJL4|Q6ZWC7	Nonsense_Mutation	SNP	ENST00000329153.5	37	CCDS45128.1	.	.	.	.	.	.	.	.	.	.	C	43	9.867434	0.99283	.	.	ENSG00000054690	ENST00000329153;ENST00000417684	.	.	.	5.53	1.65	0.23941	.	0.122742	0.56097	D	0.000022	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.8137	0.40840	0.0:0.5563:0.0:0.4437	.	.	.	.	X	1268;133	.	ENSP00000330278:Y1268X	Y	+	3	2	PLEKHH1	67122438	0.604000	0.26932	0.999000	0.59377	0.998000	0.95712	-0.064000	0.11636	0.132000	0.18615	0.655000	0.94253	TAC		0.498	PLEKHH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412730.3	XM_031054		A	68052685	C	A	68052685	4	1	694	1	0	0	0	0	0	1	0	0	12078	518	18	4	3910	4	PLEKHH1	14	68052685	Nonsense_Mutation	SNP	C	TCGA-KL-8325-01A-11D-2310-10		68052685	39296855	50	38468											
STON2	85439	broad.mit.edu	37	14	81737175	81737175	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr14:81737175C>T	ENST00000267540.2	-	5	2652	c.2452G>A	c.(2452-2454)Ggc>Agc	p.G818S	STON2_ENST00000555447.1_Missense_Mutation_p.G818S	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	818	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				hematopoietic progenitor cell differentiation (GO:0002244)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|synaptic vesicle (GO:0008021)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		CGGTCAGAGCCGAGTTCAAGG	0.498																																																0													99	85	90					14																	81737175		2203	4300	6503	SO:0001583	missense	85439			AB208948	CCDS9875.1, CCDS58332.1	14q31.1	2007-08-01				ENSG00000140022			30652	protein-coding gene	gene with protein product	"stoned B homolog 2 (Drosophila)"	608467				11381094, 11454741	Standard	NM_033104		Approved	STNB2, STN2	uc001xvk.2	Q8WXE9		ENST00000267540.2:c.2452G>A	14.37:g.81737175C>T	ENSP00000267540:p.Gly818Ser		G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Missense_Mutation	SNP	ENST00000267540.2	37	CCDS9875.1	.	.	.	.	.	.	.	.	.	.	C	34	5.381129	0.95945	.	.	ENSG00000140022	ENST00000555447;ENST00000546306;ENST00000267540	T;T	0.18338	2.22;2.22	5.79	5.79	0.91817	Clathrin adaptor, mu subunit, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.36580	0.0972	L	0.39633	1.23	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.01397	-1.1365	10	0.49607	T	0.09	-28.5503	20.0371	0.97565	0.0:1.0:0.0:0.0	.	818;818	Q8WXE9;G3V2T7	STON2_HUMAN;.	S	818;830;818	ENSP00000450857:G818S;ENSP00000267540:G818S	ENSP00000267540:G818S	G	-	1	0	STON2	80806928	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.231000	0.78106	2.734000	0.93682	0.655000	0.94253	GGC		0.498	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413317.1	NM_033104		T	81737175	C	T	81737175	3	4	694	1	0	0	0	0	1	0	0	0	15323	652	23	1	267	1	STON2	14	81737175	Missense_Mutation	SNP	C	TCGA-KL-8325-01A-11D-2310-10	13684490	81737175	25612365	51	38469											
MAP1A	4130	hgsc.bcm.edu;bcgsc.ca	37	15	43819747	43819747	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr15:43819747C>T	ENST00000300231.5	+	4	6526	c.6076C>T	c.(6076-6078)Ctc>Ttc	p.L2026F	MAP1A_ENST00000382031.1_Missense_Mutation_p.L2264F|MAP1A_ENST00000399453.1_Missense_Mutation_p.L2026F			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2026					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)	ACCCAAGAGCCTCCAGTCTGA	0.607																																																0													62	66	65					15																	43819747		2022	4187	6209	SO:0001583	missense	4130			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.6076C>T	15.37:g.43819747C>T	ENSP00000300231:p.Leu2026Phe		O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	C	12.73	2.025026	0.35701	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01446	4.88;4.88;4.88	4.9	2.89	0.33648	.	0.590783	0.12936	N	0.426958	T	0.02767	0.0083	L	0.32530	0.975	0.24938	N	0.991877	P	0.45176	0.852	P	0.50896	0.653	T	0.45469	-0.9259	10	0.12430	T	0.62	-5.1836	10.2687	0.43470	0.354:0.646:0.0:0.0	.	2026	P78559	MAP1A_HUMAN	F	2264;2026;2026	ENSP00000371462:L2264F;ENSP00000382380:L2026F;ENSP00000300231:L2026F	ENSP00000300231:L2026F	L	+	1	0	MAP1A	41607039	0.295000	0.24389	0.952000	0.39060	0.993000	0.82548	0.962000	0.29280	1.249000	0.43950	0.655000	0.94253	CTC		0.607	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		T	43819747	C	T	43819747	3	4	694	1	0	0	0	0	1	0	0	0	9229	681	24	2	6078	2	MAP1A	15	43819747	Missense_Mutation	SNP	C	TCGA-KL-8325-01A-11D-2310-10		43819747	58711645	52	38470											
GALK2	2585	broad.mit.edu	37	15	49493438	49493438	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr15:49493438A>G	ENST00000560031.1	+	2	440	c.133A>G	c.(133-135)Aac>Gac	p.N45D	GALK2_ENST00000559454.1_Missense_Mutation_p.N21D|GALK2_ENST00000327171.3_Missense_Mutation_p.N34D|GALK2_ENST00000544523.1_Missense_Mutation_p.N21D|GALK2_ENST00000396509.2_Missense_Mutation_p.N21D|GALK2_ENST00000543495.1_5'UTR|RN7SL307P_ENST00000490342.2_RNA			Q01415	GALK2_HUMAN	galactokinase 2	45					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		all_lung(180;0.000325)		all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05)		AGGAAGAGTCAACATAATAGG	0.284																																																0													65	62	63					15																	49493438		2196	4293	6489	SO:0001583	missense	2585				CCDS32236.1, CCDS42034.1, CCDS73724.1	15q21.1-q21.2	2013-09-20			ENSG00000156958	ENSG00000156958	2.7.1.6		4119	protein-coding gene	gene with protein product		137028					Standard	XM_005254279		Approved	GK2	uc001zxj.1	Q01415	OTTHUMG00000172325	ENST00000560031.1:c.133A>G	15.37:g.49493438A>G	ENSP00000453129:p.Asn45Asp		Q7Z4Q4	Missense_Mutation	SNP	ENST00000560031.1	37	CCDS42034.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.075302	0.76415	.	.	ENSG00000156958	ENST00000327171;ENST00000396509;ENST00000544523	D;D	0.95238	-3.65;-3.65	5.17	5.17	0.71159	Ribosomal protein S5 domain 2-type fold (1);Galactokinase, conserved site (1);Galactokinase galactose-binding domain (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);	0.000000	0.85682	D	0.000000	D	0.97841	0.9291	M	0.93328	3.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98842	1.0755	10	0.72032	D	0.01	0.2608	14.2904	0.66273	1.0:0.0:0.0:0.0	.	45;34	Q01415;Q7Z4Q4	GALK2_HUMAN;.	D	34;45;21	ENSP00000316632:N34D;ENSP00000440312:N21D	ENSP00000316632:N34D	N	+	1	0	GALK2	47280730	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	5.522000	0.67092	2.077000	0.62373	0.379000	0.24179	AAC		0.284	GALK2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417854.1			G	49493438	A	G	49493438	3	3	694	1	0	0	0	0	1	0	0	0	6206	130	5	3	163	3	GALK2	15	49493438	Missense_Mutation	SNP	A	TCGA-KL-8325-01A-11D-2310-10	5673691	49493438	53037954	53	38471											
ALDH1A3	220	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	15	101427815	101427815	+	Silent	SNP	C	C	A			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr15:101427815C>A	ENST00000329841.5	+	3	775	c.243C>A	c.(241-243)gcC>gcA	p.A81A	RP11-66B24.8_ENST00000558568.1_lincRNA|ALDH1A3_ENST00000346623.6_Silent_p.A81A|ALDH1A3_ENST00000560555.1_3'UTR	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	81					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)	CACAGGTTGCCTTCCAGAGGG	0.637																																																0													83	84	84					15																	101427815		2203	4300	6503	SO:0001819	synonymous_variant	220			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.243C>A	15.37:g.101427815C>A			Q6NT64	Silent	SNP	ENST00000329841.5	37	CCDS10389.1																																																																																				0.637	ALDH1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313620.2			A	101427815	C	A	101427815	2	1	694	1	0	0	0	0	0	0	0	1	492	668	24	4		4	ALDH1A3	15	101427815	Silent	SNP	C	TCGA-KL-8325-01A-11D-2310-10	51934377	101427815	1103577	54	38472											
CLN3	1201	broad.mit.edu	37	16	28503050	28503051	+	Frame_Shift_Ins	INS	-	-	C	rs374055075		TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr16:28503050_28503051insC	ENST00000569430.1	-	3	849_850	c.30_31insG	c.(28-33)cgctttfs	p.F11fs	APOBR_ENST00000328423.5_5'Flank|CLN3_ENST00000395653.4_5'UTR|CLN3_ENST00000567963.1_Frame_Shift_Ins_p.F11fs|CLN3_ENST00000565316.1_Frame_Shift_Ins_p.F11fs|CLN3_ENST00000333496.9_Frame_Shift_Ins_p.F11fs|CLN3_ENST00000357076.5_Frame_Shift_Ins_p.F11fs|CLN3_ENST00000354630.5_Frame_Shift_Ins_p.F11fs|CLN3_ENST00000535392.1_5'UTR|APOBR_ENST00000564831.1_5'Flank|CLN3_ENST00000357806.7_Frame_Shift_Ins_p.F11fs|CLN3_ENST00000567160.1_5'Flank|CLN3_ENST00000568224.1_5'UTR|CLN3_ENST00000357857.9_5'UTR|CLN3_ENST00000360019.2_Frame_Shift_Ins_p.F11fs|CLN3_ENST00000359984.7_Frame_Shift_Ins_p.F11fs|APOBR_ENST00000431282.1_5'Flank|CLN3_ENST00000355477.5_Frame_Shift_Ins_p.F11fs			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	11					action potential (GO:0001508)|amyloid precursor protein catabolic process (GO:0042987)|arginine transport (GO:0015809)|associative learning (GO:0008306)|autophagic vacuole fusion (GO:0000046)|cell death (GO:0008219)|cellular amino acid metabolic process (GO:0006520)|ceramide metabolic process (GO:0006672)|cytosolic calcium ion homeostasis (GO:0051480)|galactosylceramide metabolic process (GO:0006681)|globoside metabolic process (GO:0001575)|glucosylceramide metabolic process (GO:0006678)|ionotropic glutamate receptor signaling pathway (GO:0035235)|lysosomal lumen acidification (GO:0007042)|lysosomal lumen pH elevation (GO:0035752)|lysosome organization (GO:0007040)|macroautophagy (GO:0016236)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of macroautophagy (GO:0016242)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteolysis (GO:0045861)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter metabolic process (GO:0042133)|protein catabolic process (GO:0030163)|protein processing (GO:0016485)|receptor-mediated endocytosis (GO:0006898)|sphingomyelin metabolic process (GO:0006684)|vacuolar transport (GO:0007034)|vesicle transport along microtubule (GO:0047496)	autophagic vacuole (GO:0005776)|caveola (GO:0005901)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	unfolded protein binding (GO:0051082)			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						GAATCCGAAAAGCGCCGCCGCG	0.653											OREG0023706	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0																																										SO:0001589	frameshift_variant	1201			U32680	CCDS10632.1, CCDS73852.1, CCDS73853.1, CCDS73854.1, CCDS73855.1	16p12	2014-09-17	2008-07-29		ENSG00000188603	ENSG00000188603			2074	protein-coding gene	gene with protein product	"juvenile neuronal ceroid lipofuscinosis"	607042	"Batten, Spielmeyer-Vogt disease"	BTS		18317235	Standard	NM_001042432		Approved	JNCL	uc002dpp.3	Q13286	OTTHUMG00000097024	ENST00000569430.1:c.30_31insG	16.37:g.28503050_28503051insC	ENSP00000454229:p.Phe11fs	802	B2R7J1|O00668|O95089|Q549S9|Q9UP09|Q9UP11|Q9UP12|Q9UP13|Q9UP14	Frame_Shift_Ins	INS	ENST00000569430.1	37	CCDS10632.1																																																																																				0.653	CLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214115.2			C	28503051	-	C	28503050	7	5	694	1	0	1	1	0	0	0	0	0	3545	72	3	0	1345	0	CLN3	16	28503050	Frame_Shift_Ins	INS	-	TCGA-KL-8325-01A-11D-2310-10		28503050	61851703	55	38473											
HAS3	3038	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	16	69148916	69148916	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr16:69148916G>A	ENST00000306560.1	+	4	1565	c.1409G>A	c.(1408-1410)gGc>gAc	p.G470D	HAS3_ENST00000219322.3_Intron|HAS3_ENST00000569188.1_Missense_Mutation_p.G470D	NM_005329.2	NP_005320.2	O00219	HYAS3_HUMAN	hyaluronan synthase 3	470					carbohydrate metabolic process (GO:0005975)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of transcription, DNA-templated (GO:0045893)|small molecule metabolic process (GO:0044281)	hyaluranon cable (GO:0036117)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		GGCACCTCTGGCCGAAAAACC	0.532																																																0													156	143	147					16																	69148916		2198	4300	6498	SO:0001583	missense	3038			BC021853	CCDS10870.1, CCDS10871.1	16q22.1	2013-02-22			ENSG00000103044	ENSG00000103044	2.4.1.212	"Glycosyltransferase family 2 domain containing"	4820	protein-coding gene	gene with protein product		602428				9169154, 9083017	Standard	NM_005329		Approved		uc010cfh.3	O00219	OTTHUMG00000137562	ENST00000306560.1:c.1409G>A	16.37:g.69148916G>A	ENSP00000304440:p.Gly470Asp		A8K5T5|Q8WTZ0|Q9NYP0	Missense_Mutation	SNP	ENST00000306560.1	37	CCDS10871.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.438313	0.83885	.	.	ENSG00000103044	ENST00000306560	T	0.51071	0.72	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.74222	0.3688	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76634	-0.2887	10	0.72032	D	0.01	0.7811	19.9192	0.97079	0.0:0.0:1.0:0.0	.	470	O00219	HAS3_HUMAN	D	470	ENSP00000304440:G470D	ENSP00000304440:G470D	G	+	2	0	HAS3	67706417	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.751000	0.98889	2.882000	0.98803	0.655000	0.94253	GGC		0.532	HAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268898.2	NM_138612		A	69148916	G	A	69148916	3	1	694	1	0	0	0	0	1	0	0	0	6965	1203	42	2	1419	2	HAS3	16	69148916	Missense_Mutation	SNP	G	TCGA-KL-8325-01A-11D-2310-10	40645866	69148916	21205837	56	38474											
LHX1	3975	broad.mit.edu	37	17	35297586	35297587	+	Splice_Site	INS	-	-	C	rs199890217		TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr17:35297586_35297587insC	ENST00000254457.5	+	2	1581_1582		c.e2-1		RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1						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)				cccccCCGCAGGTGTTTCGGTA	0.644																																																0																																										SO:0001630	splice_region_variant	3975			U14755	CCDS11316.1	17q12	2014-04-11			ENSG00000132130	ENSG00000273706		"Homeoboxes / LIM class"	6593	protein-coding gene	gene with protein product		601999				9212161	Standard	NM_005568		Approved	LIM-1, LIM1	uc002hnh.2	P48742	OTTHUMG00000188456	ENST00000254457.5:c.171-1->C	17.37:g.35297586_35297587insC			Q3MIW0	Splice_Site	INS	ENST00000254457.5	37	CCDS11316.1																																																																																				0.644	LHX1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256704.3	NM_005568	Intron	C	35297587	-	C	35297586	8	5	694	1	0	1	1	0	0	0	1	0	8772	1014	35	0	176	0	LHX1	17	35297586	Splice_Site	INS	-	TCGA-KL-8325-01A-11D-2310-10		35297586	45897624	57	38475											
ACBD4	79777	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	17	43215198	43215198	+	Splice_Site	SNP	G	G	A			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr17:43215198G>A	ENST00000376955.4	+	7	870		c.e7+1		ACBD4_ENST00000586346.1_Splice_Site|ACBD4_ENST00000431281.1_Splice_Site|ACBD4_ENST00000591136.1_Splice_Site|ACBD4_ENST00000321854.8_Splice_Site|ACBD4_ENST00000398322.3_Splice_Site|ACBD4_ENST00000592162.1_Splice_Site|ACBD4_ENST00000591859.1_Splice_Site	NM_001135707.1	NP_001129179.1	Q8NC06	ACBD4_HUMAN	acyl-CoA binding domain containing 4								fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)			kidney(1)|lung(3)|ovary(1)	5						GCCTGAGCTGGTGAGCCCAGT	0.607																																																0													84	92	89					17																	43215198		2067	4211	6278	SO:0001630	splice_region_variant	79777			BC029164	CCDS42348.1, CCDS45710.1, CCDS45711.1	17q21.31	2012-10-02	2010-04-30		ENSG00000181513	ENSG00000181513			23337	protein-coding gene	gene with protein product			"acyl-Coenzyme A binding domain containing 4"				Standard	NM_001135704		Approved	FLJ13322	uc002iie.3	Q8NC06	OTTHUMG00000180111	ENST00000376955.4:c.573+1G>A	17.37:g.43215198G>A			D3DX64|Q8IUT1|Q9H8Q4	Splice_Site	SNP	ENST00000376955.4	37	CCDS45711.1	.	.	.	.	.	.	.	.	.	.	G	18.89	3.718556	0.68844	.	.	ENSG00000181513	ENST00000431281;ENST00000321854;ENST00000398322;ENST00000376955	.	.	.	4.93	4.93	0.64822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6437	0.77029	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ACBD4	40570724	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	7.418000	0.80167	2.294000	0.77228	0.555000	0.69702	.		0.607	ACBD4-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000449816.1	NM_024722	Intron	A	43215198	G	A	43215198	5	1	694	1	0	0	0	0	0	0	1	0	124	1275	44	2	634	2	ACBD4	17	43215198	Splice_Site	SNP	G	TCGA-KL-8325-01A-11D-2310-10	7917612	43215198	37980012	58	38476											
TTLL6	284076	broad.mit.edu	37	17	46882179	46882179	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr17:46882179A>G	ENST00000393382.3	-	2	419	c.278T>C	c.(277-279)cTt>cCt	p.L93P	TTLL6_ENST00000470462.2_5'Flank	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						GGCATTCTGAAGTCCGTTTTG	0.498											OREG0024527	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													75	67	70					17																	46882179		692	1591	2283	SO:0001583	missense	284076			AK093127	CCDS11537.2, CCDS45724.1	17q21.32	2013-02-14			ENSG00000170703	ENSG00000170703		"Tubulin tyrosine ligase-like family"	26664	protein-coding gene	gene with protein product		610849				15890843	Standard	NM_173623		Approved	FLJ35808	uc021tzm.1	Q8N841	OTTHUMG00000156978	ENST00000393382.3:c.278T>C	17.37:g.46882179A>G	ENSP00000377043:p.Leu93Pro	942		Missense_Mutation	SNP	ENST00000393382.3	37	CCDS45724.1	.	.	.	.	.	.	.	.	.	.	A	1.864	-0.461996	0.04508	.	.	ENSG00000170703	ENST00000440941;ENST00000393382;ENST00000456415;ENST00000418322	.	.	.	5.08	1.37	0.22104	.	0.740636	0.10225	U	0.700467	T	0.41811	0.1175	M	0.65975	2.015	0.18873	N	0.999983	B	0.15141	0.012	B	0.15052	0.012	T	0.46830	-0.9163	9	0.87932	D	0	.	2.7808	0.05360	0.5947:0.0:0.2178:0.1875	.	45	Q8N841	TTLL6_HUMAN	P	93;45;45;95	.	ENSP00000365871:L45P	L	-	2	0	TTLL6	44237178	0.982000	0.34865	0.005000	0.12908	0.002000	0.02628	2.401000	0.44513	0.478000	0.27488	-0.290000	0.09829	CTT		0.498	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346939.3	NM_173623		G	46882179	A	G	46882179	3	3	694	1	0	0	0	0	1	0	0	0	16736	72	3	3	2534	3	TTLL6	17	46882179	Missense_Mutation	SNP	A	TCGA-KL-8325-01A-11D-2310-10	3666981	46882179	34313031	59	38477											
SERPINB12	89777	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	18	61223519	61223519	+	Missense_Mutation	SNP	C	C	T	rs199538877	byFrequency	TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr18:61223519C>T	ENST00000269491.1	+	1	127	c.127C>T	c.(127-129)Cgc>Tgc	p.R43C	SERPINB12_ENST00000382768.1_Missense_Mutation_p.R43C	NM_080474.1	NP_536722.1	Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	43					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						TGGTATGGTACGCTTGGGTGC	0.453													C|||	2	0.000399361	0.0015	0.0	5008	,	,		22058	0.0		0.0	False		,,,				2504	0.0															0								C	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	196	184	188		127	3.1	1	18		188	0,8600		0,0,4300	yes	missense	SERPINB12	NM_080474.1	180	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	43/406	61223519	2,13004	2203	4300	6503	SO:0001583	missense	89777			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.127C>T	18.37:g.61223519C>T	ENSP00000269491:p.Arg43Cys		Q3SYB4	Missense_Mutation	SNP	ENST00000269491.1	37	CCDS11984.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	11.14	1.550237	0.27652	4.54E-4	0.0	ENSG00000166634	ENST00000269491;ENST00000382768	D;D	0.82711	-1.64;-1.64	5.13	3.09	0.35607	Serpin domain (3);	0.311822	0.28388	N	0.015534	D	0.86875	0.6038	M	0.70595	2.14	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.69824	0.963;0.966	T	0.76366	-0.2985	10	0.56958	D	0.05	.	4.0413	0.09753	0.1525:0.5687:0.1318:0.147	.	43;43	Q3SYB4;Q96P63	.;SPB12_HUMAN	C	43	ENSP00000269491:R43C;ENSP00000372218:R43C	ENSP00000269491:R43C	R	+	1	0	SERPINB12	59374499	0.002000	0.14202	0.969000	0.41365	0.134000	0.20937	1.015000	0.29963	1.139000	0.42245	0.655000	0.94253	CGC		0.453	SERPINB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256197.1	NM_080474		T	61223519	C	T	61223519	3	4	694	1	0	0	0	0	1	0	0	0	14105	536	19	1	129	1	SERPINB12	18	61223519	Missense_Mutation	SNP	C	TCGA-KL-8325-01A-11D-2310-10		61223519	16853729	60	38478											
CNDP1	84735	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	18	72238436	72238436	+	Missense_Mutation	SNP	C	C	A			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr18:72238436C>A	ENST00000358821.3	+	7	1000	c.772C>A	c.(772-774)Cag>Aag	p.Q258K	CNDP1_ENST00000582365.1_Missense_Mutation_p.Q215K	NM_032649.5	NP_116038	Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	258						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)		ATGCAGAGACCAGGATTTTCA	0.408																																					Melanoma(32;1029 1042 25286 38395 44237)											0													195	171	179					18																	72238436		2203	4300	6503	SO:0001583	missense	84735				CCDS12007.1	18q22.3	2014-07-14			ENSG00000150656	ENSG00000150656	3.4.13.20		20675	protein-coding gene	gene with protein product	"carnosinase 1", "glutamate carboxypeptidase-like protein 2"	609064				12473676	Standard	NM_032649		Approved	MGC10825, CN1, CPGL2, HsT2308	uc002llq.3	Q96KN2	OTTHUMG00000132852	ENST00000358821.3:c.772C>A	18.37:g.72238436C>A	ENSP00000351682:p.Gln258Lys		Q14D40|Q17S05|Q2TBG0|Q6UWK2|Q9BT98	Missense_Mutation	SNP	ENST00000358821.3	37	CCDS12007.1	.	.	.	.	.	.	.	.	.	.	C	3.515	-0.098898	0.07010	.	.	ENSG00000150656	ENST00000358821	T	0.54279	0.58	5.82	5.82	0.92795	Peptidase M20, dimerisation (1);	0.177016	0.49916	D	0.000127	T	0.30510	0.0767	N	0.11000	0.08	0.44168	D	0.996974	B	0.32717	0.381	B	0.34242	0.178	T	0.22277	-1.0221	10	0.05620	T	0.96	-22.3205	12.8776	0.57999	0.2657:0.7343:0.0:0.0	.	258	Q96KN2	CNDP1_HUMAN	K	258	ENSP00000351682:Q258K	ENSP00000351682:Q258K	Q	+	1	0	CNDP1	70389416	0.926000	0.31397	0.996000	0.52242	0.822000	0.46500	1.507000	0.35758	2.765000	0.95021	0.591000	0.81541	CAG		0.408	CNDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256326.1	NM_032649		A	72238436	C	A	72238436	3	1	694	1	0	0	0	0	1	0	0	0	3595	595	21	4	798	4	CNDP1	18	72238436	Missense_Mutation	SNP	C	TCGA-KL-8325-01A-11D-2310-10	11014917	72238436	5838812	61	38479											
MUC16	94025	broad.mit.edu	37	19	9054266	9054267	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr19:9054266_9054267insG	ENST00000397910.4	-	4	31558_31559	c.31355_31356insC	c.(31354-31356)cctfs	p.P10452fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10454	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						TGGATGTCTGAGGGCCTTTGAC	0.47																																																0																																										SO:0001589	frameshift_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.31356dupC	19.37:g.9054269_9054269dupG	ENSP00000381008:p.Pro10452fs		Q6ZQW5|Q96RK2	Frame_Shift_Ins	INS	ENST00000397910.4	37	CCDS54212.1																																																																																				0.47	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		G	9054267	-	G	9054266	7	5	694	1	0	1	1	0	0	0	0	0	9975	291	11	0	12491	0	MUC16	19	9054266	Frame_Shift_Ins	INS	-	TCGA-KL-8325-01A-11D-2310-10		9054266	50074717	62	38480											
ZNF560	147741	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	9578613	9578613	+	Missense_Mutation	SNP	A	A	T			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr19:9578613A>T	ENST00000301480.4	-	10	1223	c.1010T>A	c.(1009-1011)gTa>gAa	p.V337E		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	337					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V337A(1)		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						TTCAACATTTACAGCATGGCT	0.393																																																1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											181	159	166					19																	9578613		2203	4300	6503	SO:0001583	missense	147741			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.1010T>A	19.37:g.9578613A>T	ENSP00000301480:p.Val337Glu		Q495S9|Q495T1	Missense_Mutation	SNP	ENST00000301480.4	37	CCDS12214.1	.	.	.	.	.	.	.	.	.	.	A	10.41	1.342909	0.24339	.	.	ENSG00000198028	ENST00000301480	T	0.06933	3.24	1.68	-2.74	0.05932	.	.	.	.	.	T	0.03915	0.0110	L	0.32530	0.975	0.09310	N	1	B	0.30634	0.288	B	0.26416	0.069	T	0.42616	-0.9441	9	0.02654	T	1	.	3.5508	0.07845	0.4454:0.355:0.0:0.1996	.	337	Q96MR9	ZN560_HUMAN	E	337	ENSP00000301480:V337E	ENSP00000301480:V337E	V	-	2	0	ZNF560	9439613	0.000000	0.05858	0.000000	0.03702	0.170000	0.22686	-1.280000	0.02804	-0.728000	0.04882	0.402000	0.26972	GTA		0.393	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1	NM_152476		T	9578613	A	T	9578613	3	4	694	1	0	0	0	0	1	0	0	0	17996	391	14	5	1366	5	ZNF560	19	9578613	Missense_Mutation	SNP	A	TCGA-KL-8325-01A-11D-2310-10	524347	9578613	49550370	63	38481											
ZNF561	93134	broad.mit.edu	37	19	9724753	9724753	+	Missense_Mutation	SNP	G	G	A	rs144117005	byFrequency	TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr19:9724753G>A	ENST00000302851.3	-	5	631	c.268C>T	c.(268-270)Cgg>Tgg	p.R90W	ZNF561_ENST00000495503.1_5'UTR|ZNF561_ENST00000424629.1_Missense_Mutation_p.R21W|ZNF561_ENST00000354661.4_Intron|ZNF561_ENST00000326044.5_Intron	NM_152289.2	NP_689502.2	Q8N587	ZN561_HUMAN	zinc finger protein 561	90	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	14						AGTGATGACCGTTTGGTTCTA	0.313													g|||	5	0.000998403	0.0023	0.0	5008	,	,		17928	0.001		0.0	False		,,,				2504	0.001															0								G	TRP/ARG	2,4404	2.1+/-5.4	0,2,2201	124	125	125		268	-3.4	0	19	dbSNP_134	125	0,8600		0,0,4300	no	missense	ZNF561	NM_152289.2	101	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	90/487	9724753	2,13004	2203	4300	6503	SO:0001583	missense	93134			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.268C>T	19.37:g.9724753G>A	ENSP00000303915:p.Arg90Trp		B4E2Q8|Q6PJS0	Missense_Mutation	SNP	ENST00000302851.3	37	CCDS12216.2	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	2.871	-0.233968	0.05983	4.54E-4	0.0	ENSG00000171469	ENST00000424629;ENST00000302851;ENST00000444611	T;T;T	0.08720	3.06;5.67;5.67	1.69	-3.38	0.04883	Krueppel-associated box (3);	.	.	.	.	T	0.04452	0.0122	L	0.47190	1.495	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32798	-0.9893	9	0.36615	T	0.2	.	4.5719	0.12214	0.3643:0.2443:0.3914:0.0	.	90	Q8N587	ZN561_HUMAN	W	21;90;96	ENSP00000393074:R21W;ENSP00000303915:R90W;ENSP00000392013:R96W	ENSP00000303915:R90W	R	-	1	2	ZNF561	9585753	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-4.901000	0.00172	-1.810000	0.01230	-1.011000	0.02470	CGG		0.313	ZNF561-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347272.2	NM_152289		A	9724753	G	A	9724753	3	1	694	1	0	0	0	0	1	0	0	0	17997	1144	40	1	1200	1	ZNF561	19	9724753	Missense_Mutation	SNP	G	TCGA-KL-8325-01A-11D-2310-10	146140	9724753	49404230	64	38482											
OCEL1	79629	mdanderson.org	37	19	17337557	17337557	+	Missense_Mutation	SNP	G	G	T	rs10425488	byFrequency	TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr19:17337557G>T	ENST00000215061.4	+	2	169	c.125G>T	c.(124-126)cGc>cTc	p.R42L	OCEL1_ENST00000601529.1_Missense_Mutation_p.R42L|OCEL1_ENST00000601576.1_3'UTR|OCEL1_ENST00000597836.1_5'UTR	NM_024578.1	NP_078854.1	Q9H607	OCEL1_HUMAN	occludin/ELL domain containing 1	42	Pro-rich.		R -> L (in dbSNP:rs10425488).							central_nervous_system(2)|endometrium(2)|kidney(1)|lung(2)	7						CGCAGGACCCGCCCATCAGCC	0.746													G|||	385	0.076877	0.115	0.0836	5008	,	,		10155	0.001		0.0755	False		,,,				2504	0.1002															0								G	LEU/ARG	300,3398		14,272,1563	4	6	6		125	3	0.1	19	dbSNP_119	6	480,6968		14,452,3258	no	missense	OCEL1	NM_024578.1	102	28,724,4821	TT,TG,GG		6.4447,8.1125,6.998	possibly-damaging	42/265	17337557	780,10366	1849	3724	5573	SO:0001583	missense	79629			BC029361	CCDS12351.1	19p13.11	2008-02-05				ENSG00000099330			26221	protein-coding gene	gene with protein product						12477932	Standard	NM_024578		Approved	FLJ22709	uc002nfp.3	Q9H607		ENST00000215061.4:c.125G>T	19.37:g.17337557G>T	ENSP00000215061:p.Arg42Leu			Missense_Mutation	SNP	ENST00000215061.4	37	CCDS12351.1	142	0.06501831501831502	54	0.10975609756097561	30	0.08287292817679558	0	0.0	58	0.07651715039577836	G	16.23	3.063736	0.55432	0.081125	0.064447	ENSG00000099330	ENST00000215061	T	0.32988	1.43	3.01	3.01	0.34805	.	0.596543	0.14714	N	0.302724	T	0.00666	0.0022	N	0.19112	0.55	0.80722	P	0.0	D	0.76494	0.999	D	0.79108	0.992	T	0.04855	-1.0922	9	0.39692	T	0.17	-18.151	6.1073	0.20081	0.1412:0.0:0.8588:0.0	rs10425488	42	Q9H607	OCEL1_HUMAN	L	42	ENSP00000215061:R42L	ENSP00000215061:R42L	R	+	2	0	OCEL1	17198557	0.003000	0.15002	0.067000	0.19924	0.403000	0.30841	0.226000	0.17776	2.001000	0.58596	0.491000	0.48974	CGC		0.746	OCEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463307.1	NM_024578		T	17337557	G	T	17337557	3	4	694	1	0	0	0	0	1	0	0	0	10818	1087	38	4	131	4	OCEL1	19	17337557	Missense_Mutation	SNP	G	TCGA-KL-8325-01A-11D-2310-10	7612804	17337557	41791426	65	38483											
PSG1	5669	mdanderson.org	37	19	43383680	43383680	+	Silent	SNP	G	G	T	rs1141653	byFrequency	TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr19:43383680G>T	ENST00000436291.2	-	1	170	c.54C>A	c.(52-54)ctC>ctA	p.L18L	PSG1_ENST00000595124.1_Silent_p.L18L|PSG1_ENST00000312439.6_Silent_p.L18L|PSG1_ENST00000601073.1_5'UTR|PSG1_ENST00000244296.2_Silent_p.L18L|PSG1_ENST00000595356.1_Silent_p.L18L|PSG1_ENST00000403380.3_Silent_p.L18L	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	18					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)				CTGTGAGCAGGAGCCCCTTCC	0.552													.|||	1633	0.326078	0.4614	0.2046	5008	,	,		18648	0.4167		0.1014	False		,,,				2504	0.3671															0								G	,,	1275,1745		292,691,527	157	140	146		54,54,54	0.4	0.1	19	dbSNP_86	146	576,4838		45,486,2176	no	coding-synonymous,coding-synonymous,coding-synonymous	PSG1	NM_001184825.1,NM_001184826.1,NM_006905.2	,,	337,1177,2703	TT,TG,GG		10.6391,42.2185,21.9469	,,	18/420,18/418,18/427	43383680	1851,6583	1510	2707	4217	SO:0001819	synonymous_variant	5669				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.54C>A	19.37:g.43383680G>T			O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Silent	SNP	ENST00000436291.2	37	CCDS54275.1																																																																																				0.552	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321426.1			T	43383680	G	T	43383680	2	4	694	1	0	0	0	0	0	0	0	1	12658	1161	41	4		4	PSG1	19	43383680	Silent	SNP	G	TCGA-KL-8325-01A-11D-2310-10	26046123	43383680	15745303	66	38484											
SYMPK	8189	bcgsc.ca	37	19	46319186	46319186	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr19:46319186A>G	ENST00000245934.7	-	26	3854	c.3610T>C	c.(3610-3612)Ttc>Ctc	p.F1204L	RSPH6A_ENST00000597055.1_5'Flank|SYMPK_ENST00000598155.1_5'UTR|RSPH6A_ENST00000221538.3_5'Flank	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	1204					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)		ATGCTGATGAAGATGCCCGGG	0.687																																																0													16	17	17					19																	46319186		2185	4264	6449	SO:0001583	missense	8189			U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.3610T>C	19.37:g.46319186A>G	ENSP00000245934:p.Phe1204Leu		O00521|O00689|O00733|Q59GT5|Q8N2U5	Missense_Mutation	SNP	ENST00000245934.7	37	CCDS12676.2	.	.	.	.	.	.	.	.	.	.	A	23.8	4.463226	0.84425	.	.	ENSG00000125755	ENST00000245934	.	.	.	4.24	4.24	0.50183	.	0.360544	0.26163	N	0.025976	T	0.36552	0.0971	N	0.24115	0.695	0.39418	D	0.966874	B	0.29037	0.231	B	0.24701	0.055	T	0.40701	-0.9549	9	0.87932	D	0	.	9.7033	0.40200	1.0:0.0:0.0:0.0	.	1204	Q92797	SYMPK_HUMAN	L	1204	.	ENSP00000245934:F1204L	F	-	1	0	SYMPK	51011026	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	3.177000	0.50871	1.795000	0.52594	0.241000	0.17934	TTC		0.687	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819		G	46319186	A	G	46319186	3	3	694	1	0	0	0	0	1	0	0	0	15444	72	3	3	222	3	SYMPK	19	46319186	Missense_Mutation	SNP	A	TCGA-KL-8325-01A-11D-2310-10	2935506	46319186	12809797	67	38485											
GLTSCR2	29997	mdanderson.org	37	19	48258772	48258772	+	Silent	SNP	G	G	A	rs11083895	byFrequency	TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr19:48258772G>A	ENST00000246802.5	+	9	1259	c.1221G>A	c.(1219-1221)ggG>ggA	p.G407G	CTD-2571L23.6_ENST00000602048.1_RNA|SNORD23_ENST00000408876.1_RNA|GLTSCR2_ENST00000598681.1_3'UTR	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	407						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)		GAAGGCTGGGGCGGCTCAAGT	0.716													G|||	2618	0.522764	0.2315	0.5519	5008	,	,		7627	0.5575		0.672	False		,,,				2504	0.7065				Colon(58;613 1041 9473 10089 15241)											0								G		1117,1057		287,543,257	1	2	2		1221	2.9	1	19	dbSNP_120	2	4101,1193		1647,807,193	no	coding-synonymous	GLTSCR2	NM_015710.4		1934,1350,450	AA,AG,GG		22.5349,48.6201,30.1285		407/479	48258772	5218,2250	1087	2647	3734	SO:0001819	synonymous_variant	29997			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.1221G>A	19.37:g.48258772G>A			Q9BTC6|Q9HAX6|Q9NPP1|Q9NPR4|Q9UFI2	Silent	SNP	ENST00000246802.5	37	CCDS12705.1																																																																																				0.716	GLTSCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464870.1	NM_015710		A	48258772	G	A	48258772	2	1	694	1	0	0	0	0	0	0	0	1	6477	1190	42	2		2	GLTSCR2	19	48258772	Silent	SNP	G	TCGA-KL-8325-01A-11D-2310-10	1939586	48258772	10870211	68	38486											
TOP1	7150	broad.mit.edu	37	20	39708803	39708803	+	Silent	SNP	A	A	G			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr20:39708803A>G	ENST00000361337.2	+	6	664	c.414A>G	c.(412-414)agA>agG	p.R138R		NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	138	Lys-rich.				chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|DNA topological change (GO:0006265)|embryonic cleavage (GO:0040016)|phosphorylation (GO:0016310)|programmed cell death (GO:0012501)|response to drug (GO:0042493)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|replication fork protection complex (GO:0031298)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|poly(A) RNA binding (GO:0044822)			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Sodium stibogluconate(DB05630)|Topotecan(DB01030)	CATTAAAGAGACCTCGAGATG	0.318			T	NUP98	AML*																																		Dom	yes		20	20q12-q13.1	7150	topoisomerase (DNA) I		L	0													72	70	71					20																	39708803		2203	4299	6502	SO:0001819	synonymous_variant	7150				CCDS13312.1	20q12-q13.1	1990-06-22			ENSG00000198900	ENSG00000198900	5.99.1.2		11986	protein-coding gene	gene with protein product		126420					Standard	NM_003286		Approved		uc010ggd.1	P11387	OTTHUMG00000033057	ENST00000361337.2:c.414A>G	20.37:g.39708803A>G			A8KA78|E1P5W3|O43256|Q12855|Q12856|Q15610|Q5TFY3|Q9UJN0	Silent	SNP	ENST00000361337.2	37	CCDS13312.1																																																																																				0.318	TOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080397.2			G	39708803	A	G	39708803	2	3	694	1	0	0	0	0	0	0	0	1	16368	272	10	3		3	TOP1	20	39708803	Silent	SNP	A	TCGA-KL-8325-01A-11D-2310-10		39708803	23316717	69	38487											
MYT1	4661	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	20	62839675	62839675	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr20:62839675G>A	ENST00000328439.1	+	7	1490	c.1126G>A	c.(1126-1128)Gga>Aga	p.G376R	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000536311.1_Missense_Mutation_p.G376R	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)					GATGACCCGGGGAAACCTGGG	0.637																																					GBM(59;481 1041 20555 21139 33705)											0													68	62	64					20																	62839675		2203	4300	6503	SO:0001583	missense	4661			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.1126G>A	20.37:g.62839675G>A	ENSP00000327465:p.Gly376Arg		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000328439.1	37	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	g	19.02	3.746509	0.69418	.	.	ENSG00000196132	ENST00000328439;ENST00000536311	T;T	0.28255	2.57;1.62	4.46	4.46	0.54185	.	0.000000	0.85682	D	0.000000	T	0.59074	0.2167	M	0.81112	2.525	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.97110	1.0;0.957	T	0.67245	-0.5719	10	0.87932	D	0	-33.6868	17.157	0.86794	0.0:0.0:1.0:0.0	.	376;376	F5H7M8;Q01538	.;MYT1_HUMAN	R	376	ENSP00000327465:G376R;ENSP00000442412:G376R	ENSP00000327465:G376R	G	+	1	0	MYT1	62310119	1.000000	0.71417	0.926000	0.36857	0.963000	0.63663	9.529000	0.98049	2.051000	0.60960	0.450000	0.29827	GGA		0.637	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		A	62839675	G	A	62839675	3	1	694	1	0	0	0	0	1	0	0	0	10108	1233	43	2	1144	2	MYT1	20	62839675	Missense_Mutation	SNP	G	TCGA-KL-8325-01A-11D-2310-10	23130872	62839675	185845	70	38488											
PKDREJ	10343	broad.mit.edu	37	22	46657795	46657795	+	Missense_Mutation	SNP	T	T	A			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr22:46657795T>A	ENST00000253255.5	-	1	1424	c.1425A>T	c.(1423-1425)agA>agT	p.R475S		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	475	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				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)		ACAAAGAAAATCTATCAGAGA	0.393																																																0													98	103	101					22																	46657795		2203	4300	6503	SO:0001583	missense	10343			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.1425A>T	22.37:g.46657795T>A	ENSP00000253255:p.Arg475Ser		B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	T	12.93	2.084923	0.36758	.	.	ENSG00000130943	ENST00000253255	T	0.71461	-0.57	5.18	0.561	0.17285	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	0.142710	0.31020	N	0.008419	T	0.77824	0.4188	M	0.62723	1.935	0.33455	D	0.584177	D	0.89917	1.0	D	0.91635	0.999	T	0.78079	-0.2344	10	0.27785	T	0.31	-15.3402	10.8303	0.46656	0.0:0.4797:0.0:0.5203	.	475	Q9NTG1	PKDRE_HUMAN	S	475	ENSP00000253255:R475S	ENSP00000253255:R475S	R	-	3	2	PKDREJ	45036459	0.928000	0.31464	0.128000	0.21923	0.007000	0.05969	-0.015000	0.12634	-0.159000	0.11021	-0.274000	0.10170	AGA		0.393	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		A	46657795	T	A	46657795	3	1	694	1	0	0	0	0	1	0	0	0	11972	1432	50	5	5340	5	PKDREJ	22	46657795	Missense_Mutation	SNP	T	TCGA-KL-8325-01A-11D-2310-10		46657795	4646771	71	38489											
SPEN	23013	broad.mit.edu	37	1	16260459	16260459	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr1:16260459C>T	ENST00000375759.3	+	11	7928	c.7724C>T	c.(7723-7725)cCa>cTa	p.P2575L		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2575	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)		CCGCCCCCGCCAGTTGACTCT	0.522																																																0													73	84	81					1																	16260459		2203	4300	6503	SO:0001583	missense	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.7724C>T	1.37:g.16260459C>T	ENSP00000364912:p.Pro2575Leu		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	CCDS164.1	.	.	.	.	.	.	.	.	.	.	C	6.140	0.394125	0.11638	.	.	ENSG00000065526	ENST00000375759	T	0.09350	2.99	5.38	3.46	0.39613	.	.	.	.	.	T	0.12561	0.0305	L	0.50333	1.59	0.20403	N	0.999907	B	0.24258	0.1	B	0.21708	0.036	T	0.16660	-1.0395	9	0.29301	T	0.29	-0.4291	14.2989	0.66334	0.2718:0.7282:0.0:0.0	.	2575	Q96T58	MINT_HUMAN	L	2575	ENSP00000364912:P2575L	ENSP00000364912:P2575L	P	+	2	0	SPEN	16133046	0.000000	0.05858	0.014000	0.15608	0.688000	0.40055	0.853000	0.27777	0.616000	0.30141	0.561000	0.74099	CCA		0.522	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		T	16260459	C	T	16260459	3	4	695	1	0	0	0	0	1	0	0	0	15043	594	21	2	7766	2	SPEN	1	16260459	Missense_Mutation	SNP	C	TCGA-KL-8326-01A-11D-2310-10		16260459	232990162	1	38490											
SPATA21	374955	broad.mit.edu	37	1	16731518	16731518	+	Missense_Mutation	SNP	C	C	T	rs140528029		TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr1:16731518C>T	ENST00000335496.1	-	8	1237	c.755G>A	c.(754-756)gGc>gAc	p.G252D	SPATA21_ENST00000466212.1_5'UTR|SPATA21_ENST00000540400.1_Missense_Mutation_p.G229D	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	252							calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		CACAGAGAAGCCCATTAGGAG	0.587																																																0													109	91	97					1																	16731518		2203	4300	6503	SO:0001583	missense	374955				CCDS172.1	1p36.13	2013-01-10			ENSG00000187144	ENSG00000187144		"EF-hand domain containing"	28026	protein-coding gene	gene with protein product							Standard	NM_198546		Approved	spergen-2, spergen2	uc001ayn.3	Q7Z572	OTTHUMG00000002312	ENST00000335496.1:c.755G>A	1.37:g.16731518C>T	ENSP00000335612:p.Gly252Asp		B9EK40|F5GXP5	Missense_Mutation	SNP	ENST00000335496.1	37	CCDS172.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.962510	0.53400	.	.	ENSG00000187144	ENST00000335496;ENST00000540400	D;D	0.84298	-1.83;-1.83	4.53	4.53	0.55603	EF-hand-like domain (1);	0.000000	0.56097	D	0.000032	D	0.92799	0.7710	M	0.88979	2.995	0.40552	D	0.98112	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.93990	0.7266	10	0.87932	D	0	-17.4912	12.9323	0.58294	0.0:1.0:0.0:0.0	.	229;252	F5GXP5;Q7Z572	.;SPT21_HUMAN	D	252;229	ENSP00000335612:G252D;ENSP00000440046:G229D	ENSP00000335612:G252D	G	-	2	0	SPATA21	16604105	1.000000	0.71417	0.998000	0.56505	0.294000	0.27393	2.231000	0.43009	2.505000	0.84491	0.313000	0.20887	GGC		0.587	SPATA21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006677.2	NM_198546		T	16731518	C	T	16731518	3	4	695	1	0	0	0	0	1	0	0	0	15012	739	26	2	678	2	SPATA21	1	16731518	Missense_Mutation	SNP	C	TCGA-KL-8326-01A-11D-2310-10	471059	16731518	232519103	2	38491											
AKR7L	246181	mdanderson.org	37	1	19600376	19600377	+	RNA	DNP	TT	TT	GC	rs565823852|rs539454439	byFrequency	TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	TT	TT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr1:19600376_19600377TT>GC	ENST00000429712.1	-	0	311_312				AKR7L_ENST00000420396.2_RNA			Q8NHP1	ARK74_HUMAN	aldo-keto reductase family 7-like							extracellular vesicular exosome (GO:0070062)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						CTGCTGCCCATTCGGAGCCCCA	0.673																																																0																																												246181					1p36.1-p35	2008-12-09			ENSG00000211454	ENSG00000211454			24056	protein-coding gene	gene with protein product		608478				12879023	Standard	NR_040288		Approved	AFAR3	uc021ohn.1	Q8NHP1	OTTHUMG00000002520	ENST00000429712.1:c.192_193delinsGC	1.37:g.19600376_19600377delinsGC			Q5U614	RNA	DNP	ENST00000429712.1	37																																																																																					0.673	AKR7L-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000007163.3	NM_201252		GC	19600377	TT	GC	19600376	1	3	695	0	1	0	0	0	0	0	0	0	477	1493	52	5		5	AKR7L	1	19600376	RNA	DNP	TT	TCGA-KL-8326-01A-11D-2310-10	2868858	19600376	229650245	3	38492											
SYCP1	6847	broad.mit.edu	37	1	115418696	115418696	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr1:115418696A>G	ENST00000369522.3	+	10	904	c.664A>G	c.(664-666)Ata>Gta	p.I222V	SYCP1_ENST00000369518.1_Missense_Mutation_p.I222V	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	222					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)		TCAGAAAATGATAACAGCTTT	0.274																																																0													46	49	48					1																	115418696		2203	4294	6497	SO:0001583	missense	6847			D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"cancer/testis antigen 8"	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.664A>G	1.37:g.115418696A>G	ENSP00000358535:p.Ile222Val		O14963|Q5VXJ6	Missense_Mutation	SNP	ENST00000369522.3	37	CCDS879.1	.	.	.	.	.	.	.	.	.	.	A	4.011	-0.000587	0.07819	.	.	ENSG00000198765	ENST00000369522;ENST00000536734;ENST00000455987;ENST00000369518	T;T;T	0.52295	0.67;0.67;0.67	5.52	0.545	0.17190	.	0.270468	0.43260	N	0.000599	T	0.10594	0.0259	L	0.29908	0.895	0.26560	N	0.973751	B;B	0.19073	0.033;0.033	B;B	0.23574	0.047;0.047	T	0.40739	-0.9547	10	0.02654	T	1	-6.9164	10.4389	0.44452	0.6334:0.0:0.3666:0.0	.	222;222	B7ZLS9;Q15431	.;SYCP1_HUMAN	V	222	ENSP00000358535:I222V;ENSP00000410011:I222V;ENSP00000358531:I222V	ENSP00000358531:I222V	I	+	1	0	SYCP1	115220219	1.000000	0.71417	0.998000	0.56505	0.963000	0.63663	0.924000	0.28777	-0.093000	0.12396	-1.162000	0.01777	ATA		0.274	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176		G	115418696	A	G	115418696	3	3	695	1	0	0	0	0	1	0	0	0	15436	333	12	3	698	3	SYCP1	1	115418696	Missense_Mutation	SNP	A	TCGA-KL-8326-01A-11D-2310-10	95818320	115418696	133831925	4	38493											
LCE3C	353144	broad.mit.edu	37	1	152573449	152573449	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr1:152573449G>A	ENST00000333881.3	+	1	312	c.242G>A	c.(241-243)gGc>gAc	p.G81D		NM_178434.2	NP_848521.1	Q5T5A8	LCE3C_HUMAN	late cornified envelope 3C	81					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)		GGTCAGCAAGGCGGGGGCTCC	0.602																																																0													34	33	33					1																	152573449		1810	2679	4489	SO:0001583	missense	353144			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.242G>A	1.37:g.152573449G>A	ENSP00000334644:p.Gly81Asp		A1L420	Missense_Mutation	SNP	ENST00000333881.3	37	CCDS1015.1	.	.	.	.	.	.	.	.	.	.	G	1.076	-0.668510	0.03403	.	.	ENSG00000244057	ENST00000333881	T	0.03607	3.87	4.01	3.09	0.35607	.	.	.	.	.	T	0.00524	0.0017	.	.	.	0.09310	N	1	B	0.22146	0.065	B	0.17098	0.017	T	0.44019	-0.9355	8	0.02654	T	1	.	9.2689	0.37659	0.0:0.7629:0.2371:0.0	.	81	Q5T5A8	LCE3C_HUMAN	D	81	ENSP00000334644:G81D	ENSP00000334644:G81D	G	+	2	0	LCE3C	150840073	0.000000	0.05858	0.019000	0.16419	0.008000	0.06430	-0.101000	0.10973	0.876000	0.35872	0.313000	0.20887	GGC		0.602	LCE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040061.2	NM_178434		A	152573449	G	A	152573449	3	1	695	1	0	0	0	0	1	0	0	0	8673	1203	42	2	244	2	LCE3C	1	152573449	Missense_Mutation	SNP	G	TCGA-KL-8326-01A-11D-2310-10	37154753	152573449	96677172	5	38494											
SMYD1	150572	broad.mit.edu	37	2	88383883	88383883	+	Silent	SNP	C	C	T			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr2:88383883C>T	ENST00000419482.2	+	2	271	c.186C>T	c.(184-186)ctC>ctT	p.L62L	MIR4780_ENST00000584268.1_RNA|SMYD1_ENST00000444564.2_Silent_p.L62L|SMYD1_ENST00000438570.1_Silent_p.L62L|SMYD1_ENST00000468008.1_3'UTR	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	62	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)	p.L62L(1)		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						AGGAGAAGCTCCATCGCTGTG	0.512																																																1	Substitution - coding silent(1)	ovary(1)											107	91	97					2																	88383883		2203	4300	6503	SO:0001819	synonymous_variant	150572			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.186C>T	2.37:g.88383883C>T			A0AV30|A6NE13	Silent	SNP	ENST00000419482.2	37	CCDS33240.1																																																																																				0.512	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338229.2	XM_097915		T	88383883	C	T	88383883	2	4	695	1	0	0	0	0	0	0	0	1	14827	842	30	2		2	SMYD1	2	88383883	Silent	SNP	C	TCGA-KL-8326-01A-11D-2310-10		88383883	154815490	6	38495											
REV1	51455	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	100038086	100038086	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr2:100038086C>T	ENST00000258428.3	-	11	1934	c.1706G>A	c.(1705-1707)tGt>tAt	p.C569Y	REV1_ENST00000465835.1_5'UTR|REV1_ENST00000393445.3_Missense_Mutation_p.C568Y	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	569	UmuC. {ECO:0000255|PROSITE- ProRule:PRU00216}.				DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CGCTTCATCACAACTGACAGC	0.438								Direct reversal of damage																																								0													142	123	129					2																	100038086		2203	4300	6503	SO:0001583	missense	51455			AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"DNA polymerases"	14060	protein-coding gene	gene with protein product		606134	"REV1 (yeast homolog)- like", "REV1-like (yeast)", "REV1 homolog (S. cerevisiae)"	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.1706G>A	2.37:g.100038086C>T	ENSP00000258428:p.Cys569Tyr		O95941|Q53SI7|Q9C0J4|Q9NUP2	Missense_Mutation	SNP	ENST00000258428.3	37	CCDS2045.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.283368	0.59867	.	.	ENSG00000135945	ENST00000393445;ENST00000258428	T;T	0.75938	-0.98;-0.98	5.29	5.29	0.74685	DNA-repair protein, UmuC-like, N-terminal (1);DNA-repair protein, UmuC-like (1);	0.000000	0.85682	D	0.000000	D	0.88224	0.6379	M	0.85373	2.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.89663	0.3878	10	0.87932	D	0	.	19.2796	0.94048	0.0:1.0:0.0:0.0	.	569;568	Q9UBZ9;Q9UBZ9-2	REV1_HUMAN;.	Y	568;569	ENSP00000377091:C568Y;ENSP00000258428:C569Y	ENSP00000258428:C569Y	C	-	2	0	REV1	99404518	1.000000	0.71417	1.000000	0.80357	0.037000	0.13140	7.206000	0.77891	2.646000	0.89796	0.655000	0.94253	TGT		0.438	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253123.2	NM_016316		T	100038086	C	T	100038086	3	4	695	1	0	0	0	0	1	0	0	0	13245	478	17	2	2101	2	REV1	2	100038086	Missense_Mutation	SNP	C	TCGA-KL-8326-01A-11D-2310-10	11654203	100038086	143161287	7	38496											
CREG2	200407	hgsc.bcm.edu	37	2	102000023	102000024	+	Missense_Mutation	DNP	GC	GC	TA			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	GC	GC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr2:102000023_102000024GC>TA	ENST00000324768.5	-	2	719_720	c.582_583GC>TA	c.(580-585)atGCtg>atTAtg	p.194_195ML>IM	CREG2_ENST00000495455.1_5'UTR	NM_153836.3	NP_722578.1	Q8IUH2	CREG2_HUMAN	cellular repressor of E1A-stimulated genes 2	194						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	FMN binding (GO:0010181)|oxidoreductase activity (GO:0016491)			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						GATTCTGGCAGCATCAGCGAGG	0.545																																																0																																										SO:0001583	missense	200407			AB046109	CCDS2052.1	2q12.1	2007-08-01			ENSG00000175874	ENSG00000175874			14272	protein-coding gene	gene with protein product						12408961	Standard	NM_153836		Approved		uc002tba.2	Q8IUH2	OTTHUMG00000130692	ENST00000324768.5:c.582_583delinsTA	2.37:g.102000023_102000024delinsTA	ENSP00000315203:p.M194_L195delinsIM		Q86X03|Q8N540|Q8N9E3	Missense_Mutation	DNP	ENST00000324768.5	37	CCDS2052.1																																																																																				0.545	CREG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253188.2	NM_153836		TA	102000024	GC	TA	102000023	3	4	695	1	0	0	0	0	1	0	0	0	3867	962	34	4	301	4	CREG2	2	102000023	Missense_Mutation	DNP	GC	TCGA-KL-8326-01A-11D-2310-10	1961937	102000023	141199350	8	38497											
LYPD1	116372	ucsc.edu	37	2	133427465	133427465	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr2:133427465A>G	ENST00000397463.2	-	1	313	c.41T>C	c.(40-42)tTc>tCc	p.F14S	LYPD1_ENST00000345008.6_Intron|AC010974.3_ENST00000450509.1_RNA	NM_144586.5	NP_653187.3	Q8N2G4	LYPD1_HUMAN	LY6/PLAUR domain containing 1	14						anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				lung(2)	2						TGGAAGCAAGAACAATCCGCA	0.642																																																0													49	57	54					2																	133427465		1998	4158	6156	SO:0001583	missense	116372			AK075487	CCDS42759.1, CCDS46416.1	2q21.2	2008-02-05		2005-08-30	ENSG00000150551	ENSG00000150551			28431	protein-coding gene	gene with protein product		610450		LYPDC1		12477932	Standard	NM_144586		Approved	MGC29643	uc002ttn.3	Q8N2G4	OTTHUMG00000153609	ENST00000397463.2:c.41T>C	2.37:g.133427465A>G	ENSP00000380605:p.Phe14Ser		H7BXW6|Q6ZP52|Q6ZWI4|Q96AC2	Missense_Mutation	SNP	ENST00000397463.2	37	CCDS42759.1	.	.	.	.	.	.	.	.	.	.	A	14.19	2.461515	0.43736	.	.	ENSG00000150551	ENST00000409034;ENST00000397463	D	0.82167	-1.58	5.52	3.12	0.35913	.	0.117881	0.38381	N	0.001702	T	0.65312	0.2679	N	0.14661	0.345	0.80722	D	1	B;B	0.27732	0.187;0.018	B;B	0.21360	0.024;0.034	T	0.62329	-0.6877	10	0.87932	D	0	4.0E-4	5.4946	0.16795	0.5665:0.3455:0.088:0.0	.	14;30	Q8N2G4;Q8N2G4-3	LYPD1_HUMAN;.	S	37;14	ENSP00000380605:F14S	ENSP00000380605:F14S	F	-	2	0	LYPD1	133143935	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	1.260000	0.32968	0.896000	0.36366	0.260000	0.18958	TTC		0.642	LYPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331821.1	NM_144586		G	133427465	A	G	133427465	3	3	695	1	0	0	0	0	1	0	0	0	9111	246	9	3	396	3	LYPD1	2	133427465	Missense_Mutation	SNP	A	TCGA-KL-8326-01A-11D-2310-10	31427442	133427465	109771908	9	38498											
ECEL1	9427	broad.mit.edu;mdanderson.org;bcgsc.ca	37	2	233347864	233347864	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr2:233347864C>T	ENST00000304546.1	-	9	1742	c.1532G>A	c.(1531-1533)gGc>gAc	p.G511D	ECEL1_ENST00000409941.1_Missense_Mutation_p.G511D	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	511					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)		GTCCGGGTAGCCGACCATCAC	0.657																																																0													50	33	39					2																	233347864		2203	4299	6502	SO:0001583	missense	9427			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.1532G>A	2.37:g.233347864C>T	ENSP00000302051:p.Gly511Asp		Q45UD9|Q53RF9|Q6UW86|Q86TH4|Q9NY95	Missense_Mutation	SNP	ENST00000304546.1	37	CCDS2493.1	.	.	.	.	.	.	.	.	.	.	C	31	5.104234	0.94245	.	.	ENSG00000171551	ENST00000304546;ENST00000409941	D;D	0.90563	-2.69;-2.69	5.39	5.39	0.77823	Peptidase M13 (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.96103	0.8730	M	0.86343	2.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.96550	0.9407	10	0.87932	D	0	-10.712	19.1545	0.93504	0.0:1.0:0.0:0.0	.	511;511	O95672-2;O95672	.;ECEL1_HUMAN	D	511	ENSP00000302051:G511D;ENSP00000386333:G511D	ENSP00000302051:G511D	G	-	2	0	ECEL1	233056108	0.997000	0.39634	0.999000	0.59377	0.932000	0.56968	4.726000	0.61986	2.528000	0.85240	0.563000	0.77884	GGC		0.657	ECEL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257039.2	NM_004826		T	233347864	C	T	233347864	3	4	695	1	0	0	0	0	1	0	0	0	4893	739	26	2	835	2	ECEL1	2	233347864	Missense_Mutation	SNP	C	TCGA-KL-8326-01A-11D-2310-10	99920399	233347864	9851509	10	38499											
ILKAP	80895	broad.mit.edu;mdanderson.org;bcgsc.ca	37	2	239090747	239090747	+	Nonsense_Mutation	SNP	A	A	C			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr2:239090747A>C	ENST00000254654.3	-	9	970	c.795T>G	c.(793-795)taT>taG	p.Y265*		NM_030768.2	NP_110395.1	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated serine/threonine phosphatase	265	PP2C-like.				protein dephosphorylation (GO:0006470)|regulation of nuclear cell cycle DNA replication (GO:0033262)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		TCCGCTCTTCATACTGAGTTG	0.483																																																0													322	282	295					2																	239090747		2203	4300	6503	SO:0001587	stop_gained	80895			AY024365	CCDS2526.1	2q37.3	2012-04-17	2010-10-25		ENSG00000132323	ENSG00000132323	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	15566	protein-coding gene	gene with protein product			"integrin-linked kinase-associated serine/threonine phosphatase 2C"				Standard	NM_030768		Approved	DKFZP434J2031, FLJ10181	uc002vxv.3	Q9H0C8	OTTHUMG00000133334	ENST00000254654.3:c.795T>G	2.37:g.239090747A>C	ENSP00000254654:p.Tyr265*		B3KM39	Nonsense_Mutation	SNP	ENST00000254654.3	37	CCDS2526.1	.	.	.	.	.	.	.	.	.	.	A	38	6.662059	0.97743	.	.	ENSG00000132323	ENST00000254654;ENST00000450411	.	.	.	5.37	-3.19	0.05171	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	5.6221	11.459	0.50199	0.5229:0.0:0.4771:0.0	.	.	.	.	X	265;82	.	ENSP00000254654:Y265X	Y	-	3	2	ILKAP	238755486	0.991000	0.36638	0.835000	0.33067	0.997000	0.91878	0.307000	0.19296	-0.906000	0.03866	0.533000	0.62120	TAT		0.483	ILKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257163.2	NM_030768		C	239090747	A	C	239090747	4	2	695	1	0	0	0	0	0	1	0	0	7716	224	8	5	399	5	ILKAP	2	239090747	Nonsense_Mutation	SNP	A	TCGA-KL-8326-01A-11D-2310-10	5742883	239090747	4108626	11	38500											
OXTR	5021	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	3	8809619	8809619	+	Missense_Mutation	SNP	G	G	T	rs200886854		TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr3:8809619G>T	ENST00000316793.3	-	3	879	c.255C>A	c.(253-255)gaC>gaA	p.D85E	CAV3_ENST00000472766.1_Intron	NM_000916.3	NP_000907.2	P30559	OXYR_HUMAN	oxytocin receptor	85					cell surface receptor signaling pathway (GO:0007166)|digestive tract development (GO:0048565)|eating behavior (GO:0042755)|ERK1 and ERK2 cascade (GO:0070371)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|heart development (GO:0007507)|lactation (GO:0007595)|maternal behavior (GO:0042711)|maternal process involved in parturition (GO:0060137)|memory (GO:0007613)|muscle contraction (GO:0006936)|negative regulation of gastric acid secretion (GO:0060455)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of norepinephrine secretion (GO:0010701)|positive regulation of penile erection (GO:0060406)|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 uterine smooth muscle contraction (GO:0070474)|response to amphetamine (GO:0001975)|response to anoxia (GO:0034059)|response to cocaine (GO:0042220)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to peptide hormone (GO:0043434)|response to progesterone (GO:0032570)|sleep (GO:0030431)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|suckling behavior (GO:0001967)|telencephalon development (GO:0021537)	apical plasma membrane (GO:0016324)|cell-cell adherens junction (GO:0005913)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	oxytocin receptor activity (GO:0004990)|peptide hormone binding (GO:0017046)|vasopressin receptor activity (GO:0005000)			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)|Oxytocin(DB00107)	CCACCACCAGGTCGGCGATGC	0.627																																																0													49	45	46					3																	8809619		2203	4300	6503	SO:0001583	missense	5021				CCDS2570.1	3p25	2012-08-08			ENSG00000180914	ENSG00000180914		"GPCR / Class A : Vasopressin and oxytocin receptors"	8529	protein-coding gene	gene with protein product		167055				1313946	Standard	NM_000916		Approved		uc003brc.3	P30559	OTTHUMG00000090537	ENST00000316793.3:c.255C>A	3.37:g.8809619G>T	ENSP00000324270:p.Asp85Glu		Q15071	Missense_Mutation	SNP	ENST00000316793.3	37	CCDS2570.1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.852767	0.71719	.	.	ENSG00000180914	ENST00000316793;ENST00000449615	D;T	0.87966	-2.32;-0.21	4.73	2.9	0.33743	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.93733	0.7997	M	0.91090	3.175	0.53688	D	0.999974	D	0.89917	1.0	D	0.97110	1.0	D	0.93640	0.6964	10	0.87932	D	0	-39.5606	10.1125	0.42572	0.1693:0.0:0.8307:0.0	.	85	P30559	OXYR_HUMAN	E	85	ENSP00000324270:D85E;ENSP00000389587:D85E	ENSP00000324270:D85E	D	-	3	2	OXTR	8784619	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	4.195000	0.58400	0.987000	0.38709	0.313000	0.20887	GAC		0.627	OXTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207061.2			T	8809619	G	T	8809619	3	4	695	1	0	0	0	0	1	0	0	0	11340	1252	44	4	922	4	OXTR	3	8809619	Missense_Mutation	SNP	G	TCGA-KL-8326-01A-11D-2310-10		8809619	189212811	12	38501											
CELSR3	1951	broad.mit.edu	37	3	48694660	48694661	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr3:48694660_48694661insG	ENST00000164024.4	-	2	4149_4150	c.3869_3870insC	c.(3868-3870)ccgfs	p.P1290fs	CELSR3_ENST00000544264.1_Frame_Shift_Ins_p.P1290fs	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1290					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)		GGCCCAGCAGCGGTGACAGGAA	0.634																																																0																																										SO:0001589	frameshift_variant	1951			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3230	protein-coding gene	gene with protein product	"flamingo homolog 1 (Drosophila)"	604264	"cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.3870dupC	3.37:g.48694662_48694662dupG	ENSP00000164024:p.Pro1290fs		O75092	Frame_Shift_Ins	INS	ENST00000164024.4	37	CCDS2775.1																																																																																				0.634	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		G	48694661	-	G	48694660	7	5	695	1	0	1	1	0	0	0	0	0	3225	755	27	0	6204	0	CELSR3	3	48694660	Frame_Shift_Ins	INS	-	TCGA-KL-8326-01A-11D-2310-10	39885041	48694660	149327770	13	38502											
SIDT1	54847	broad.mit.edu	37	3	113342326	113342326	+	Missense_Mutation	SNP	G	G	T			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr3:113342326G>T	ENST00000264852.4	+	22	2869	c.2143G>T	c.(2143-2145)Ggc>Tgc	p.G715C	SIDT1_ENST00000463226.1_3'UTR|SIDT1_ENST00000393830.3_Missense_Mutation_p.G720C	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	715					dsRNA transport (GO:0033227)	integral component of membrane (GO:0016021)	RNA transmembrane transporter activity (GO:0051033)			breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						CTACATGCTGGGCATCTTCAT	0.567																																																0													136	138	138					3																	113342326		2203	4300	6503	SO:0001583	missense	54847			AK000181	CCDS2974.1	3q13.31	2009-11-26			ENSG00000072858	ENSG00000072858			25967	protein-coding gene	gene with protein product		606816					Standard	NM_017699		Approved	FLJ20174, SID-1	uc003eak.3	Q9NXL6	OTTHUMG00000159299	ENST00000264852.4:c.2143G>T	3.37:g.113342326G>T	ENSP00000264852:p.Gly715Cys		Q17RR4	Missense_Mutation	SNP	ENST00000264852.4	37	CCDS2974.1	.	.	.	.	.	.	.	.	.	.	G	33	5.276712	0.95459	.	.	ENSG00000072858	ENST00000264852;ENST00000393830	T;T	0.23552	1.9;1.9	5.62	5.62	0.85841	.	0.085246	0.51477	D	0.000099	T	0.47192	0.1432	L	0.61218	1.895	0.80722	D	1	D;D	0.64830	0.99;0.994	P;P	0.62014	0.831;0.897	T	0.21211	-1.0252	10	0.39692	T	0.17	-10.785	18.4243	0.90604	0.0:0.0:1.0:0.0	.	720;715	Q9NXL6-2;Q9NXL6	.;SIDT1_HUMAN	C	715;720	ENSP00000264852:G715C;ENSP00000377416:G720C	ENSP00000264852:G715C	G	+	1	0	SIDT1	114825016	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.646000	0.89796	0.655000	0.94253	GGC		0.567	SIDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317564.1	NM_017699		T	113342326	G	T	113342326	3	4	695	1	0	0	0	0	1	0	0	0	14308	1232	43	4	2229	4	SIDT1	3	113342326	Missense_Mutation	SNP	G	TCGA-KL-8326-01A-11D-2310-10	64647666	113342326	84680104	14	38503											
BOD1L	259282	broad.mit.edu	37	4	13615200	13615200	+	Silent	SNP	T	T	C			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr4:13615200T>C	ENST00000040738.5	-	5	1395	c.1260A>G	c.(1258-1260)gaA>gaG	p.E420E		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	420	Lys-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)										CAGTATCTTCTTCAAAAGATG	0.388																																																0													134	128	130					4																	13615200		2203	4300	6503	SO:0001819	synonymous_variant	259282			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.1260A>G	4.37:g.13615200T>C			Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Silent	SNP	ENST00000040738.5	37	CCDS3411.2																																																																																				0.388	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		C	13615200	T	C	13615200	2	2	695	1	0	0	0	0	0	0	0	1	1483	1606	56	3		3	BOD1L	4	13615200	Silent	SNP	T	TCGA-KL-8326-01A-11D-2310-10		13615200	177539076	15	38504											
NHEDC1	150159	mdanderson.org	37	4	103822298	103822298	+	Silent	SNP	C	C	T	rs3175325	byFrequency	TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr4:103822298C>T	ENST00000296422.7	-	12	1665	c.1524G>A	c.(1522-1524)caG>caA	p.Q508Q	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	508					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)										ATGTTGACAACTGCAGTTTTA	0.358																																																0													66	70	68					4																	103822298		1818	3378	5196	SO:0001819	synonymous_variant	150159			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.1524G>A	4.37:g.103822298C>T			A1KXV1|B9EH04|C9JBP7|Q49A30|Q8NCV2|Q8WVZ0	Silent	SNP	ENST00000296422.7	37	CCDS34041.1																																																																																				0.358	SLC9B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363841.1	NM_139173		T	103822298	C	T	103822298	2	4	695	1	0	0	0	0	0	0	0	1	10402	564	20	2		2	NHEDC1	4	103822298	Silent	SNP	C	TCGA-KL-8326-01A-11D-2310-10	90207098	103822298	87331978	16	38505											
FAT4	79633	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	4	126369744	126369744	+	Missense_Mutation	SNP	G	G	A	rs201007539		TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr4:126369744G>A	ENST00000394329.3	+	9	7586	c.7573G>A	c.(7573-7575)Gcc>Acc	p.A2525T	FAT4_ENST00000335110.5_Missense_Mutation_p.A823T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2525	Cadherin 24. {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						CATTATGGCCGCCGGACCACT	0.418																																																0													65	67	66					4																	126369744		2203	4299	6502	SO:0001583	missense	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.7573G>A	4.37:g.126369744G>A	ENSP00000377862:p.Ala2525Thr		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	14.78	2.639072	0.47153	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.48522	0.81;0.81	5.72	4.89	0.63831	Cadherin (4);Cadherin-like (1);	0.000000	0.34110	U	0.004241	T	0.40694	0.1127	L	0.37561	1.115	0.43338	D	0.995382	D;B;B	0.55605	0.972;0.004;0.003	P;B;B	0.45099	0.469;0.004;0.002	T	0.15521	-1.0434	10	0.15066	T	0.55	.	14.9437	0.71014	0.0685:0.0:0.9315:0.0	.	823;2525;2525	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	T	2525;823	ENSP00000377862:A2525T;ENSP00000335169:A823T	ENSP00000335169:A823T	A	+	1	0	FAT4	126589194	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	3.440000	0.52886	1.441000	0.47550	-0.143000	0.13931	GCC		0.418	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		A	126369744	G	A	126369744	3	1	695	1	0	0	0	0	1	0	0	0	5694	1087	38	1	7607	1	FAT4	4	126369744	Missense_Mutation	SNP	G	TCGA-KL-8326-01A-11D-2310-10	22547446	126369744	64784532	17	38506											
SPZ1	84654	mdanderson.org	37	5	79616400	79616400	+	Missense_Mutation	SNP	G	G	A	rs200562315	byFrequency	TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr5:79616400G>A	ENST00000296739.4	+	1	611	c.366G>A	c.(364-366)atG>atA	p.M122I		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	122					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.M122I(1)		endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		TCAATGAAATGTTATCAACAA	0.368																																																1	Substitution - Missense(1)	skin(1)											49	44	45					5																	79616400		1799	4058	5857	SO:0001583	missense	84654				CCDS43336.1	5q14.1	2014-06-13				ENSG00000164299			30721	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 148"					11165476, 12778315, 15226296, 15829580, 15899793	Standard	NM_032567		Approved	NYD-TSP1, FLJ25709, PPP1R148	uc003kgn.3	Q9BXG8		ENST00000296739.4:c.366G>A	5.37:g.79616400G>A	ENSP00000369611:p.Met122Ile		B2RA21|Q8N4P1|Q8N7E9	Missense_Mutation	SNP	ENST00000296739.4	37	CCDS43336.1	.	.	.	.	.	.	.	.	.	.	G	8.567	0.879064	0.17395	.	.	ENSG00000164299	ENST00000511881;ENST00000296739	T;T	0.39787	1.06;1.62	2.92	-2.42	0.06542	.	.	.	.	.	T	0.17238	0.0414	N	0.05078	-0.115	0.09310	N	1	B	0.20988	0.05	B	0.10450	0.005	T	0.15178	-1.0446	9	0.33940	T	0.23	.	4.398	0.11372	0.5786:0.0:0.2498:0.1716	.	122	Q9BXG8	SPZ1_HUMAN	I	122	ENSP00000426530:M122I;ENSP00000369611:M122I	ENSP00000369611:M122I	M	+	3	0	SPZ1	79652156	0.000000	0.05858	0.000000	0.03702	0.514000	0.34195	-1.754000	0.01816	-0.613000	0.05694	0.313000	0.20887	ATG		0.368	SPZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369322.1	NM_032567		A	79616400	G	A	79616400	3	1	695	1	0	0	0	0	1	0	0	0	15132	1377	48	2	368	2	SPZ1	5	79616400	Missense_Mutation	SNP	G	TCGA-KL-8326-01A-11D-2310-10		79616400	101298860	18	38507											
MEGF10	84466	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	5	126776527	126776527	+	Missense_Mutation	SNP	G	G	A	rs565304206	byFrequency	TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	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															0													146	131	136					5																	126776527		2203	4300	6503	SO:0001583	missense	84466			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		Q68DE5|Q8WUL3	Missense_Mutation	SNP	ENST00000274473.6	37	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		A	126776527	G	A	126776527	3	1	695	1	0	0	0	0	1	0	0	0	9462	1087	38	1	2396	1	MEGF10	5	126776527	Missense_Mutation	SNP	G	TCGA-KL-8326-01A-11D-2310-10	47160127	126776527	54138733	19	38508											
TRIM15	89870	broad.mit.edu	37	6	30139748	30139748	+	Silent	SNP	C	C	T			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr6:30139748C>T	ENST00000376694.4	+	7	1489	c.1020C>T	c.(1018-1020)ggC>ggT	p.G340G	TRIM15_ENST00000376688.1_Intron	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	340	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				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						CGGTTCTGGGCTTCCCGGGCT	0.701																																																0													6	7	7					6																	30139748		1498	2677	4175	SO:0001819	synonymous_variant	89870			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.1020C>T	6.37:g.30139748C>T			A2BEC9|O95604|Q8IUX9|Q9C018	Silent	SNP	ENST00000376694.4	37	CCDS4677.1																																																																																				0.701	TRIM15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076026.2	NM_033229		T	30139748	C	T	30139748	2	4	695	1	0	0	0	0	0	0	0	1	16495	784	28	2		2	TRIM15	6	30139748	Silent	SNP	C	TCGA-KL-8326-01A-11D-2310-10		30139748	140975319	20	38509											
HLA-DRB5	3127	mdanderson.org	37	6	32497900	32497900	+	Splice_Site	SNP	A	A	G	rs78612727	byFrequency	TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr6:32497900A>G	ENST00000374975.3	-	1	163		c.e1+1			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						ATGTGCACTTACGTCGGGTGT	0.522																																																0													99	102	101					6																	32497900		2203	4300	6503	SO:0001630	splice_region_variant	3127				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.100+1T>C	6.37:g.32497900A>G				Splice_Site	SNP	ENST00000374975.3	37	CCDS4751.1	.	.	.	.	.	.	.	.	.	.	.	8.839	0.941693	0.18281	.	.	ENSG00000198502	ENST00000374975	.	.	.	4.54	3.3	0.37823	.	.	.	.	.	.	.	.	.	.	.	0.35921	D	0.831832	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.4495	0.27229	0.8084:0.0:0.0:0.1916	.	.	.	.	.	-1	.	.	.	-	.	.	HLA-DRB5	32605878	0.985000	0.35326	0.199000	0.23439	0.019000	0.09904	2.123000	0.41996	1.909000	0.55274	0.397000	0.26171	.		0.522	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076022.2	NM_002125	Intron	G	32497900	A	G	32497900	5	3	695	1	0	0	0	0	0	0	1	0	7211	405	14	3	722	3	HLA-DRB5	6	32497900	Splice_Site	SNP	A	TCGA-KL-8326-01A-11D-2310-10	2358152	32497900	138617167	21	38510											
HLA-DPB1	3115	broad.mit.edu	37	6	33048688	33048689	+	Frame_Shift_Ins	INS	-	-	A	rs141530233|rs534577141	byFrequency	TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr6:33048688_33048689insA	ENST00000418931.2	+	2	456_457	c.340_341insA	c.(340-342)gggfs	p.G114fs	HLA-DPA1_ENST00000419277.1_5'Flank|HLA-DPB1_ENST00000471184.1_3'UTR|HLA-DPB1_ENST00000535465.1_Frame_Shift_Ins_p.G114fs	NM_002121.5	NP_002112.3	P04440	DPB1_HUMAN	major histocompatibility complex, class II, DP beta 1	114	Beta-1.		G -> E (in allele DPB1*01:01, allele DPB1*03:01, allele DPB1*03:02, allele DPB1*04:03, allele DPB1*05:01, allele DPB1*05:02, allele DPB1*06:01, allele DPB1*08:01, allele DPB1*08:02, allele DPB1*09:01, allele DPB1*09:02, allele DPB1*10:01, allele DPB1*11:01, allele DPB1*13:01, allele DPB1*13:02, allele DPB1*14:01, allele DPB1*14:02, allele DPB1*16:01, allele DPB1*17:01, allele DPB1*17:02, allele DPB1*19:01, allele DPB1*21:01, allele DPB1*21:02, allele DPB1*20:01, allele DPB1*22:01, allele DPB1*22:02, allele DPB1*25:01, allele DPB1*25:02, allele DPB1*26:01, allele DPB1*27:01, allele DPB1*29:01, allele DPB1*30:01, allele DPB1*31:01, allele DPB1*35:01, allele DPB1*36:01, allele DPB1*37:01, allele DPB1*38:01, allele DPB1*44:01, allele DPB1*45:01, allele DPB1*50:01, allele DPB1*52:01, allele DPB1*54:01, allele DPB1*55:01, allele DPB1*56:01, allele DPB1*57:01, allele DPB1*58:01, allele DPB1*63:01, allele DPB1*65:01, allele DPB1*67:01, allele DPB1*68:01, allele DPB1*69:01, allele DPB1*70:01, allele DPB1*76:01, allele DPB1*78:01, allele DPB1*79:01, allele DPB1*84:01, allele DPB1*85:01, allele DPB1*87:01, allele DPB1*88:01, allele DPB1*89:01, allele DPB1*90:01, allele DPB1*91:01, allele DPB1*92:01, allele DPB1*93:01, allele DPB1*97:01 and allele DPB1*98:01; dbSNP:rs9277354). {ECO:0000269|PubMed:6330724}.		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	peptide antigen binding (GO:0042605)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	11						CGAGCTGGGCGGGCCCATGACC	0.708																																																0										2094,2108		551,992,558						-3.9	0		dbSNP_134	20	2192,6010		354,1484,2263	no	frameshift	HLA-DPB1	NM_002121.5		905,2476,2821	A1A1,A1R,RR		26.7252,49.8334,34.5534				4286,8118				SO:0001589	frameshift_variant	3115				CCDS4765.1	6p21.3	2013-01-11			ENSG00000223865	ENSG00000223865		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4940	protein-coding gene	gene with protein product		142858		HLA-DP1B			Standard	NM_002121		Approved		uc003ocu.2	P04440	OTTHUMG00000031076	Exception_encountered	6.37:g.33048688_33048689insA	ENSP00000408146:p.Gly114fs		A0PFJ7|A5I886|A8YPB3|B5U8B4|B7VF80|B7VF87|B8ZX68|B8ZYT0|B9W5S8|B9W6F7|B9W6F9|C0MPP5|C0MPQ2|C0MPQ3|C0MPQ5|C0MPQ6|C0MPQ7|C4R9J5|C5IZL1|O00259|O19698|O19700|O19702|O19749|O46884|O77952|O98215|O98216|O98217|O98218|O98219|O98222|O98223|P01916|P04232|P13763|P79493|P79608|Q0P0L4|Q0ZFN3|Q14279|Q27S71|Q29682|Q29684|Q29698|Q29714|Q29775|Q29776|Q29778|Q29779|Q29781|Q29827|Q29828|Q29879|Q29880|Q29898|Q29977|Q2MGW3|Q30015|Q30031|Q30032|Q30033|Q30034|Q30050|Q30051|Q30052|Q30053|Q30054|Q30055|Q30174|Q4GY31|Q4JHD8|Q5ENE0|Q5ENE1|Q5ENW3|Q5EP46|Q5EP47|Q5EP49|Q5EP51|Q5EP52|Q5EP53|Q5EP56|Q5I4H8|Q5I4H9|Q5ISH4|Q5ISH5|Q5SQ73|Q5STP2|Q5YLA6|Q6IVX1|Q6LBX2|Q6LBX3|Q6LBX4|Q6LBX5|Q6LBX6|Q6LBX7|Q6PWX6|Q6TAS4|Q714U1|Q714U2|Q7YQ10|Q860Z7|Q8HWL7|Q8HWT5|Q8SNC4|Q95HC1|Q95IT7|Q95IT8|Q9BD13|Q9GIM2|Q9GIM4|Q9GIX6|Q9GJ41|Q9MY67|Q9TNT7|Q9TQE2|Q9XS11|Q9XS12	Frame_Shift_Ins	INS	ENST00000418931.2	37	CCDS4765.1																																																																																				0.708	HLA-DPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076106.2	NM_002121		A	33048689	-	A	33048688	7	5	695	1	0	1	1	0	0	0	0	0	7205	1116	39	0	346	0	HLA-DPB1	6	33048688	Frame_Shift_Ins	INS	-	TCGA-KL-8326-01A-11D-2310-10	550788	33048688	138066379	22	38511											
C6orf174	387104	ucsc.edu	37	6	127796985	127796985	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr6:127796985A>G	ENST00000525778.1	-	6	2931	c.2186T>C	c.(2185-2187)cTt>cCt	p.L729P	SOGA3_ENST00000474293.2_5'Flank|SOGA3_ENST00000481848.2_Missense_Mutation_p.L729P|SOGA3_ENST00000368268.2_Missense_Mutation_p.L729P|SOGA3_ENST00000556132.1_Missense_Mutation_p.L729P|SOGA3_ENST00000465909.2_Missense_Mutation_p.L729P			Q5TF21	SOGA3_HUMAN	SOGA family member 3	729					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											GTTGGACATAAGCACGCGGTT	0.672																																																0													67	74	72					6																	127796985		2194	4296	6490	SO:0001583	missense	387104			AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 174"	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.2186T>C	6.37:g.127796985A>G	ENSP00000434570:p.Leu729Pro			Missense_Mutation	SNP	ENST00000525778.1	37	CCDS43505.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.983571	0.74474	.	.	ENSG00000214338	ENST00000556132;ENST00000368268;ENST00000525778;ENST00000465909	T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.74680	0.3748	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79645	-0.1717	10	0.87932	D	0	-13.174	14.9909	0.71387	1.0:0.0:0.0:0.0	.	729	Q5TF21	CF174_HUMAN	P	729	ENSP00000451768:L729P;ENSP00000357251:L729P;ENSP00000434570:L729P;ENSP00000435559:L729P	ENSP00000435559:L729P	L	-	2	0	C6orf174	127838678	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	9.051000	0.93849	1.952000	0.56665	0.379000	0.24179	CTT		0.672	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279		G	127796985	A	G	127796985	3	3	695	1	0	0	0	0	1	0	0	0	2347	72	3	3	665	3	C6orf174	6	127796985	Missense_Mutation	SNP	A	TCGA-KL-8326-01A-11D-2310-10	94748297	127796985	43318082	23	38512											
STXBP5	134957	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	6	147646106	147646106	+	Nonsense_Mutation	SNP	C	C	A			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr6:147646106C>A	ENST00000321680.6	+	17	1814	c.1814C>A	c.(1813-1815)tCa>tAa	p.S605*	STXBP5_ENST00000179882.6_Nonsense_Mutation_p.S276*|STXBP5_ENST00000367480.3_Nonsense_Mutation_p.S605*|STXBP5_ENST00000367481.3_Nonsense_Mutation_p.S605*	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	605					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		GTTAAAAACTCACCACTTAAA	0.333																																																0													56	60	59					6																	147646106		2203	4300	6503	SO:0001587	stop_gained	134957			AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"WD repeat domain containing"	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.1814C>A	6.37:g.147646106C>A	ENSP00000321826:p.Ser605*		Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Nonsense_Mutation	SNP	ENST00000321680.6	37	CCDS47499.1	.	.	.	.	.	.	.	.	.	.	C	38	6.790862	0.97841	.	.	ENSG00000164506	ENST00000367481;ENST00000321680;ENST00000367480;ENST00000179882	.	.	.	4.94	4.94	0.65067	.	0.279933	0.35320	N	0.003284	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	.	18.5225	0.90959	0.0:1.0:0.0:0.0	.	.	.	.	X	605;605;605;276	.	ENSP00000179882:S276X	S	+	2	0	STXBP5	147687799	1.000000	0.71417	0.985000	0.45067	0.994000	0.84299	5.657000	0.67996	2.438000	0.82558	0.655000	0.94253	TCA		0.333	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1			A	147646106	C	A	147646106	4	1	695	1	0	0	0	0	0	1	0	0	15361	838	29	4	1880	4	STXBP5	6	147646106	Nonsense_Mutation	SNP	C	TCGA-KL-8326-01A-11D-2310-10	19849121	147646106	23468961	24	38513											
WBSCR17	64409	ucsc.edu	37	7	70800582	70800582	+	Silent	SNP	T	T	G			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr7:70800582T>G	ENST00000333538.5	+	2	919	c.285T>G	c.(283-285)ggT>ggG	p.G95G	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	95					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)				GTGGGCGGGGTAAAGGGGGCC	0.448																																																0																																										SO:0001819	synonymous_variant	64409			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.285T>G	7.37:g.70800582T>G			Q8NFV9|Q9NTA8	Silent	SNP	ENST00000333538.5	37	CCDS5540.1																																																																																				0.448	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479		G	70800582	T	G	70800582	2	3	695	1	0	0	0	0	0	0	0	1	17269	1625	57	5		5	WBSCR17	7	70800582	Silent	SNP	T	TCGA-KL-8326-01A-11D-2310-10		70800582	88338081	25	38514											
STEAP1	26872	mdanderson.org	37	7	89791240	89791240	+	Missense_Mutation	SNP	A	A	G	rs199817828		TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr7:89791240A>G	ENST00000297205.2	+	4	810	c.610A>G	c.(610-612)Aaa>Gaa	p.K204E	STEAP2-AS1_ENST00000478318.2_RNA	NM_012449.2	NP_036581.1	Q9UHE8	STEA1_HUMAN	six transmembrane epithelial antigen of the prostate 1	204	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)					CCAACAAAATAAAGAAGATGC	0.408																																																0													43	44	44					7																	89791240		2203	4296	6499	SO:0001583	missense	26872			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.610A>G	7.37:g.89791240A>G	ENSP00000297205:p.Lys204Glu		A4D1E0|O95034	Missense_Mutation	SNP	ENST00000297205.2	37	CCDS5614.1	38	0.0173992673992674	23	0.046747967479674794	1	0.0027624309392265192	0	0.0	14	0.018469656992084433	A	15.81	2.941792	0.53079	.	.	ENSG00000164647	ENST00000297205	T	0.07444	3.19	5.61	5.61	0.85477	Flavoprotein transmembrane component (1);	0.250346	0.33005	N	0.005400	T	0.01940	0.0061	L	0.51914	1.62	0.36302	D	0.857104	P;P	0.36683	0.565;0.477	B;B	0.41946	0.282;0.371	T	0.07558	-1.0766	10	0.48119	T	0.1	-6.2003	15.8022	0.78463	1.0:0.0:0.0:0.0	.	204;204	B4E221;Q9UHE8	.;STEA1_HUMAN	E	204	ENSP00000297205:K204E	ENSP00000297205:K204E	K	+	1	0	STEAP1	89629176	0.941000	0.31946	0.991000	0.47740	0.976000	0.68499	3.801000	0.55545	2.133000	0.65898	0.533000	0.62120	AAA		0.408	STEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059327.3	NM_012449		G	89791240	A	G	89791240	3	3	695	1	0	0	0	0	1	0	0	0	15282	363	13	3	620	3	STEAP1	7	89791240	Missense_Mutation	SNP	A	TCGA-KL-8326-01A-11D-2310-10	18990658	89791240	69347423	26	38515											
DOCK4	9732	bcgsc.ca	37	7	111512561	111512561	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr7:111512561A>G	ENST00000437633.1	-	18	2060	c.1804T>C	c.(1804-1806)Tct>Cct	p.S602P	DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000428084.1_Missense_Mutation_p.S602P	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	602					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)				TTTAATTTAGAGAGACAGCCA	0.333																																																0													69	61	64					7																	111512561		1812	4078	5890	SO:0001583	missense	9732				CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.1804T>C	7.37:g.111512561A>G	ENSP00000404179:p.Ser602Pro		O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	CCDS47688.1	.	.	.	.	.	.	.	.	.	.	A	18.19	3.568056	0.65651	.	.	ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250	T;T	0.19669	2.13;2.13	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.34395	0.0896	L	0.56769	1.78	0.80722	D	1	D;D;D;D	0.60575	0.979;0.979;0.979;0.988	P;P;P;P	0.54706	0.756;0.756;0.756;0.759	T	0.06445	-1.0826	10	0.44086	T	0.13	.	14.3959	0.67010	1.0:0.0:0.0:0.0	.	602;602;602;602	Q149N2;Q149N5;Q8N1I0;Q8N1I0-2	.;.;DOCK4_HUMAN;.	P	590;602;602;590;601	ENSP00000410746:S602P;ENSP00000404179:S602P	ENSP00000345432:S590P	S	-	1	0	DOCK4	111299797	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.484000	0.60271	2.048000	0.60808	0.528000	0.53228	TCT		0.333	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		G	111512561	A	G	111512561	3	3	695	1	0	0	0	0	1	0	0	0	4691	304	11	3	4236	3	DOCK4	7	111512561	Missense_Mutation	SNP	A	TCGA-KL-8326-01A-11D-2310-10	21721321	111512561	47626102	27	38516											
ST7	7982	broad.mit.edu	37	7	116759716	116759716	+	Silent	SNP	T	T	C			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr7:116759716T>C	ENST00000393446.2	+	3	639	c.336T>C	c.(334-336)tcT>tcC	p.S112S	ST7_ENST00000265437.5_Silent_p.S112S|ST7_ENST00000393443.1_Silent_p.S62S|ST7_ENST00000393449.1_Silent_p.S112S|ST7_ENST00000393451.3_Silent_p.S112S|ST7-AS2_ENST00000432541.1_RNA|ST7-AS2_ENST00000434993.1_RNA|ST7-AS2_ENST00000442719.1_RNA|ST7_ENST00000465133.1_Silent_p.S69S|ST7_ENST00000323984.3_Silent_p.S112S|ST7_ENST00000393447.4_Silent_p.S69S|ST7_ENST00000422922.1_Silent_p.S66S|ST7_ENST00000487459.1_3'UTR|ST7_ENST00000432298.1_Silent_p.S66S|ST7_ENST00000393444.3_Silent_p.S69S			Q9Y561	LRP12_HUMAN	suppression of tumorigenicity 7	0	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		ACAACAACTCTTCCAACAATT	0.413																																																0													103	105	104					7																	116759716		2203	4300	6503	SO:0001819	synonymous_variant	7982			AJ277291	CCDS5769.1, CCDS5770.1	7q31.2	2008-06-06			ENSG00000004866	ENSG00000004866			11351	protein-coding gene	gene with protein product		600833		FAM4A1		8105370, 8938430	Standard	NM_021908		Approved	TSG7, SEN4, ETS7q, HELG, RAY1, FAM4A	uc003vin.3	Q9NRC1	OTTHUMG00000023888	ENST00000393446.2:c.336T>C	7.37:g.116759716T>C			A8K137|B4DRQ2	Silent	SNP	ENST00000393446.2	37																																																																																					0.413	ST7-013	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000319687.1	NM_021908		C	116759716	T	C	116759716	2	2	695	1	0	0	0	0	0	0	0	1	15234	1596	56	3		3	ST7	7	116759716	Silent	SNP	T	TCGA-KL-8326-01A-11D-2310-10	5247155	116759716	42378947	28	38517											
FLNC	2318	broad.mit.edu	37	7	128483327	128483327	+	Silent	SNP	C	C	T			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr7:128483327C>T	ENST00000325888.8	+	17	2856	c.2595C>T	c.(2593-2595)caC>caT	p.H865H	FLNC_ENST00000346177.6_Silent_p.H865H	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	865					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						ACCCATCCCACGATGCCAGCA	0.642																																																0													33	38	36					7																	128483327		2075	4233	6308	SO:0001819	synonymous_variant	2318			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"actin binding protein 280"	102565	"filamin C, gamma (actin binding protein 280)"	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.2595C>T	7.37:g.128483327C>T			B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	ENST00000325888.8	37	CCDS43644.1																																																																																				0.642	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			T	128483327	C	T	128483327	2	4	695	1	0	0	0	0	0	0	0	1	5937	535	19	1		1	FLNC	7	128483327	Silent	SNP	C	TCGA-KL-8326-01A-11D-2310-10	11723611	128483327	30655336	29	38518											
KLRG2	346689	ucsc.edu;bcgsc.ca	37	7	139168253	139168253	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr7:139168253T>C	ENST00000340940.4	-	1	205	c.136A>G	c.(136-138)Agc>Ggc	p.S46G	KLRG2_ENST00000393039.2_Missense_Mutation_p.S46G	NM_198508.2	NP_940910.1	A4D1S0	KLRG2_HUMAN	killer cell lectin-like receptor subfamily G, member 2	46	Pro-rich.					integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|large_intestine(2)|lung(3)	6	Melanoma(164;0.233)					CTTGGGCTGCTTTCGGGACCT	0.721																																																0													13	16	15					7																	139168253		1980	4042	6022	SO:0001583	missense	346689			AK126174	CCDS5854.1	7q34	2011-08-30			ENSG00000188883	ENSG00000188883		"Killer cell lectin-like receptors", "C-type lectin domain containing"	24778	protein-coding gene	gene with protein product	"C-type lectin domain family 15, member B"						Standard	XM_005250311		Approved	FLJ44186, CLEC15B	uc003vvb.3	A4D1S0	OTTHUMG00000157705	ENST00000340940.4:c.136A>G	7.37:g.139168253T>C	ENSP00000339356:p.Ser46Gly		Q2NL79|Q6ZTV6	Missense_Mutation	SNP	ENST00000340940.4	37	CCDS5854.1	.	.	.	.	.	.	.	.	.	.	T	13.25	2.180967	0.38511	.	.	ENSG00000188883	ENST00000340940;ENST00000393039	T;T	0.48836	3.78;0.8	3.55	0.944	0.19537	.	1.345140	0.05333	U	0.528670	T	0.28962	0.0719	N	0.24115	0.695	0.09310	N	1	P;P	0.37500	0.597;0.597	B;B	0.31614	0.133;0.098	T	0.17623	-1.0363	10	0.45353	T	0.12	-3.6868	3.0292	0.06101	0.0:0.2195:0.3131:0.4674	.	46;46	A4D1S0-2;A4D1S0	.;KLRG2_HUMAN	G	46	ENSP00000339356:S46G;ENSP00000376759:S46G	ENSP00000339356:S46G	S	-	1	0	KLRG2	138818793	0.130000	0.22417	0.004000	0.12327	0.163000	0.22366	0.056000	0.14256	-0.008000	0.14320	0.254000	0.18369	AGC		0.721	KLRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349433.1	NM_198508		C	139168253	T	C	139168253	3	2	695	1	0	0	0	0	1	0	0	0	8424	1609	56	3	1113	3	KLRG2	7	139168253	Missense_Mutation	SNP	T	TCGA-KL-8326-01A-11D-2310-10	10684926	139168253	19970410	30	38519											
MLL3	58508	broad.mit.edu;mdanderson.org;bcgsc.ca	37	7	151855973	151855973	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr7:151855973G>A	ENST00000262189.6	-	44	11863	c.11645C>T	c.(11644-11646)aCt>aTt	p.T3882I	KMT2C_ENST00000355193.2_Missense_Mutation_p.T3882I	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3882					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)										AAACGTGTCAGTGCTAGAGTA	0.488																																																0													404	372	383					7																	151855973		2203	4300	6503	SO:0001583	missense	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.11645C>T	7.37:g.151855973G>A	ENSP00000262189:p.Thr3882Ile		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	10.37	1.330519	0.24167	.	.	ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000424877	D;D;D	0.88354	-1.73;-1.79;-2.37	5.56	1.33	0.21861	.	1.403890	0.05210	U	0.506622	D	0.86439	0.5933	L	0.38175	1.15	0.19300	N	0.999975	B;B;B	0.32526	0.201;0.374;0.374	B;B;B	0.36186	0.092;0.219;0.143	T	0.75274	-0.3375	10	0.62326	D	0.03	.	12.502	0.55960	0.0:0.3803:0.5009:0.1188	.	3882;2943;3882	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	MLL3_HUMAN;.;.	I	3882;3882;468	ENSP00000262189:T3882I;ENSP00000347325:T3882I;ENSP00000410411:T468I	ENSP00000262189:T3882I	T	-	2	0	MLL3	151486906	0.028000	0.19301	0.000000	0.03702	0.023000	0.10783	1.857000	0.39399	0.347000	0.23924	0.591000	0.81541	ACT		0.488	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			A	151855973	G	A	151855973	3	1	695	1	0	0	0	0	1	0	0	0	9624	1029	36	2	3154	2	MLL3	7	151855973	Missense_Mutation	SNP	G	TCGA-KL-8326-01A-11D-2310-10	12687720	151855973	7282690	31	38520											
HSF1	3297	bcgsc.ca	37	8	145535243	145535243	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr8:145535243C>T	ENST00000528838.1	+	7	839	c.679C>T	c.(679-681)Cgg>Tgg	p.R227W	HSF1_ENST00000400780.4_Missense_Mutation_p.R162W	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	227	Regulatory domain.				cellular response to heat (GO:0034605)|defense response (GO:0006952)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|female meiotic division (GO:0007143)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)|response to lipopolysaccharide (GO:0032496)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pronucleus (GO:0045120)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	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;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			CAAGTATAGCCGGCAGTTCTC	0.672																																																0													68	65	66					8																	145535243		2203	4296	6499	SO:0001583	missense	3297			M64673	CCDS6419.1	8q24.3	2014-04-10			ENSG00000185122	ENSG00000185122			5224	protein-coding gene	gene with protein product		140580				1871105	Standard	NM_005526		Approved	HSTF1	uc003zbt.4	Q00613	OTTHUMG00000174604	ENST00000528838.1:c.679C>T	8.37:g.145535243C>T	ENSP00000431512:p.Arg227Trp		A8K4L0|A8MW26|Q53XT4	Missense_Mutation	SNP	ENST00000528838.1	37	CCDS6419.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.155959	0.78114	.	.	ENSG00000185122	ENST00000528838;ENST00000400780	.	.	.	5.14	4.26	0.50523	.	0.110120	0.56097	D	0.000040	T	0.77698	0.4169	M	0.77103	2.36	0.58432	D	0.999996	D	0.89917	1.0	D	0.72338	0.977	T	0.80643	-0.1291	9	0.72032	D	0.01	-17.3041	12.8206	0.57690	0.1646:0.8353:0.0:0.0	.	227	Q00613	HSF1_HUMAN	W	227;162	.	ENSP00000383590:R162W	R	+	1	2	HSF1	145506051	1.000000	0.71417	0.927000	0.36925	0.369000	0.29798	3.469000	0.53093	1.380000	0.46344	0.563000	0.77884	CGG		0.672	HSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382053.1	NM_005526		T	145535243	C	T	145535243	3	4	695	1	0	0	0	0	1	0	0	0	7397	643	23	1	705	1	HSF1	8	145535243	Missense_Mutation	SNP	C	TCGA-KL-8326-01A-11D-2310-10		145535243	828779	32	38521											
KIAA1797	54914	ucsc.edu	37	9	20986432	20986432	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr9:20986432A>G	ENST00000380249.1	+	42	5238	c.4874A>G	c.(4873-4875)tAc>tGc	p.Y1625C	FOCAD_ENST00000605086.1_Missense_Mutation_p.Y1061C|FOCAD_ENST00000338382.6_Missense_Mutation_p.Y1625C	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	1625						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											CACAGCTTATACCAGGCACGG	0.522																																																0													120	89	99					9																	20986432		2203	4300	6503	SO:0001583	missense	54914			AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"KIAA1797"	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.4874A>G	9.37:g.20986432A>G	ENSP00000369599:p.Tyr1625Cys		D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	ENST00000380249.1	37	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.292997	0.80914	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.26660	1.72;1.72	5.72	5.72	0.89469	.	0.064498	0.64402	D	0.000005	T	0.50905	0.1643	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.50346	-0.8839	10	0.49607	T	0.09	-8.4471	15.998	0.80265	1.0:0.0:0.0:0.0	.	1625	Q5VW36	K1797_HUMAN	C	1625	ENSP00000369599:Y1625C;ENSP00000344307:Y1625C	ENSP00000344307:Y1625C	Y	+	2	0	KIAA1797	20976432	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	5.436000	0.66538	2.183000	0.69458	0.455000	0.32223	TAC		0.522	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794		G	20986432	A	G	20986432	3	3	695	1	0	0	0	0	1	0	0	0	8260	391	14	3	5028	3	KIAA1797	9	20986432	Missense_Mutation	SNP	A	TCGA-KL-8326-01A-11D-2310-10		20986432	120226999	33	38522											
MAPKAP1	79109	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	9	128246857	128246857	+	Silent	SNP	T	T	G			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr9:128246857T>G	ENST00000373498.1	-	8	1140	c.1072A>C	c.(1072-1074)Agg>Cgg	p.R358R	MAPKAP1_ENST00000265960.3_Silent_p.R358R|MAPKAP1_ENST00000350766.3_Silent_p.R322R|MAPKAP1_ENST00000394063.1_Silent_p.R166R|MAPKAP1_ENST00000373497.5_Silent_p.R71R|MAPKAP1_ENST00000373503.3_Silent_p.R166R|MAPKAP1_ENST00000373511.2_Intron			Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	358					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 Ras protein signal transduction (GO:0046580)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|substantia nigra development (GO:0021762)|T cell costimulation (GO:0031295)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein kinase binding (GO:0019901)|Ras GTPase binding (GO:0017016)			endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						CCGTCTGCCCTTGAACCTGGG	0.413																																																0													129	112	118					9																	128246857		2203	4300	6503	SO:0001819	synonymous_variant	79109			M37191	CCDS6864.1, CCDS35139.1, CCDS35140.1, CCDS35141.1, CCDS48020.1	9q34.11	2008-02-05			ENSG00000119487	ENSG00000119487			18752	protein-coding gene	gene with protein product	"stress-activated protein kinase-interacting 1"	610558				15363842	Standard	NM_001006620		Approved	MGC2745, SIN1, MIP1	uc004bpv.3	Q9BPZ7	OTTHUMG00000020683	ENST00000373498.1:c.1072A>C	9.37:g.128246857T>G			A8K1Z5|B1AMA4|B7Z309|Q00426|Q5JSV5|Q5JSV6|Q5JSV9|Q658R0|Q699U1|Q699U2|Q699U3|Q699U4|Q6GVJ0|Q6GVJ1|Q6GVJ2	Silent	SNP	ENST00000373498.1	37	CCDS35140.1																																																																																				0.413	MAPKAP1-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054092.1			G	128246857	T	G	128246857	2	3	695	1	0	0	0	0	0	0	0	1	9290	1608	56	5		5	MAPKAP1	9	128246857	Silent	SNP	T	TCGA-KL-8326-01A-11D-2310-10	107260425	128246857	12966574	34	38523											
C9orf119	375757	broad.mit.edu	37	9	131046910	131046910	+	Splice_Site	SNP	A	A	G			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr9:131046910A>G	ENST00000320188.5	+	3	548	c.548A>G	c.(547-549)gAa>gGa	p.E183G	SWI5_ENST00000495313.1_Splice_Site_p.E87G|SWI5_ENST00000418976.1_Splice_Site_p.E78G|SWI5_ENST00000419867.2_Splice_Site_p.E118G|SWI5_ENST00000608796.1_Splice_Site_p.E118G	NM_001040011.1	NP_001035100.1	Q1ZZU3	SWI5_HUMAN	SWI5 recombination repair homolog (yeast)	183					cellular response to ionizing radiation (GO:0071479)|double-strand break repair via homologous recombination (GO:0000724)	nucleus (GO:0005634)|Swi5-Sfr1 complex (GO:0032798)											TTCGTATCTGAGTAAGTTTCA	0.512																																																0													102	108	106					9																	131046910		1979	4158	6137	SO:0001630	splice_region_variant	375757			BC029911	CCDS43883.1	9q34.13	2011-07-29	2011-07-29	2011-07-29	ENSG00000175854	ENSG00000175854			31412	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 119"	C9orf119		21252223, 20976249	Standard	NM_001040011		Approved	bA395P17.9	uc004bup.3	Q1ZZU3	OTTHUMG00000020729	ENST00000320188.5:c.548+1A>G	9.37:g.131046910A>G			Q5SYX7|Q5SYX8|Q8N2W6	Missense_Mutation	SNP	ENST00000320188.5	37	CCDS43883.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	19.42|19.42|19.42	3.823333|3.823333|3.823333	0.71143|0.71143|0.71143	.|.|.	.|.|.	ENSG00000175854|ENSG00000175854|ENSG00000175854	ENST00000320188|ENST00000495313;ENST00000372898|ENST00000418976	.|.|.	.|.|.	.|.|.	5.32|5.32|5.32	4.18|4.18|4.18	0.49190|0.49190|0.49190	.|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|.	0.73079|0.73079|.	0.3541|0.3541|.	M|M|M	0.83603|0.83603|0.83603	2.65|2.65|2.65	0.45342|0.45342|0.45342	D|D|D	0.998339|0.998339|0.998339	D|.|.	0.89917|.|.	1.0|.|.	D|.|.	0.91635|.|.	0.999|.|.	T|T|.	0.73235|0.73235|.	-0.4047|-0.4047|.	9|5|.	0.87932|.|.	D|.|.	0|.|.	.|.|.	8.945|8.945|8.945	0.35753|0.35753|0.35753	0.9143:0.0:0.0857:0.0|0.9143:0.0:0.0857:0.0|0.9143:0.0:0.0857:0.0	.|.|.	183|.|.	Q1ZZU3|.|.	SWI5_HUMAN|.|.	G|E|W	183|97;93|110	.|.|.	ENSP00000316609:E183G|.|.	E|K|X	+|+|+	2|1|3	0|0|0	SWI5|SWI5|SWI5	130086731|130086731|130086731	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.999000|0.999000|0.999000	0.59377|0.59377|0.59377	0.776000|0.776000|0.776000	0.43924|0.43924|0.43924	3.514000|3.514000|3.514000	0.53422|0.53422|0.53422	0.964000|0.964000|0.964000	0.38108|0.38108|0.38108	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	GAA|AAG|TGA		0.512	SWI5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001040011	Missense_Mutation	G	131046910	A	G	131046910	5	3	695	1	0	0	0	0	0	0	1	0	2454	318	11	3	558	3	C9orf119	9	131046910	Splice_Site	SNP	A	TCGA-KL-8326-01A-11D-2310-10	2800053	131046910	10166521	35	38524											
TSC1	7248	broad.mit.edu	37	9	135797337	135797349	+	Frame_Shift_Del	DEL	CGAGATAGACTTC	CGAGATAGACTTC	-	rs118203393|rs118203392|rs118203395|rs397514794|rs118203394		TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	CGAGATAGACTTC	CGAGATAGACTTC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr9:135797337_135797349delCGAGATAGACTTC	ENST00000298552.3	-	7	741_753	c.520_532delGAAGTCTATCTCG	c.(520-534)gaagtctatctcgtcfs	p.EVYLV174fs	TSC1_ENST00000403810.1_Frame_Shift_Del_p.EVYLV174fs|TSC1_ENST00000440111.2_Frame_Shift_Del_p.EVYLV174fs|TSC1_ENST00000475903.1_5'UTR|TSC1_ENST00000545250.1_Frame_Shift_Del_p.EVYLV123fs	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	174					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.E174*(1)|p.V178L(1)|p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		TGGAGATGGACGAGATAGACTTCCGCCACGTGG	0.474			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																													yes	Rec		Tuberous sclerosis 1	9	9q34	7248	tuberous sclerosis 1 gene		"E, O"	3	Substitution - Missense(1)|Unknown(1)|Substitution - Nonsense(1)	lung(2)|bone(1)	GRCh37	CD972479|CM090913	TSC1	D|M	rs118203392																																			SO:0001589	frameshift_variant	7248	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.520_532delGAAGTCTATCTCG	9.37:g.135797337_135797349delCGAGATAGACTTC	ENSP00000298552:p.Glu174fs		B7Z897|Q5VVN5	Frame_Shift_Del	DEL	ENST00000298552.3	37	CCDS6956.1																																																																																				0.474	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054799.1			-	135797349	CGAGATAGACTTC	-	135797337	7	5	695	1	0	1	0	1	0	0	0	0	16610	536	19	0	3030	0	TSC1	9	135797337	Frame_Shift_Del	DEL	CGAGATAGACTTC	TCGA-KL-8326-01A-11D-2310-10	4750427	135797337	5416094	36	38525	298	2									
TSC1	7248	bcgsc.ca	37	9	135797338	135797350	+	Frame_Shift_Del	DEL	CGAGATAGACTTC	CGAGATAGACTTC	-	rs118203393|rs118203392|rs397514794|rs118203394		TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	CGAGATAGACTTC	CGAGATAGACTTC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr9:135797338_135797350delCGAGATAGACTTC	ENST00000298552.3	-	7	740_752	c.519_531delGAAGTCTATCTCG	c.(517-531)gcgaagtctatctcgfs	p.AKSIS173fs	TSC1_ENST00000403810.1_Frame_Shift_Del_p.AKSIS173fs|TSC1_ENST00000440111.2_Frame_Shift_Del_p.AKSIS173fs|TSC1_ENST00000475903.1_5'UTR|TSC1_ENST00000545250.1_Frame_Shift_Del_p.AKSIS122fs	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	173					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.E174*(1)|p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		GGAGATGGACGAGATAGACTTCCGCCACGTGGC	0.479			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																													yes	Rec		Tuberous sclerosis 1	9	9q34	7248	tuberous sclerosis 1 gene		"E, O"	2	Substitution - Nonsense(1)|Unknown(1)	lung(1)|bone(1)	GRCh37	CD972479|CM090913	TSC1	D|M	rs118203392																																			SO:0001589	frameshift_variant	7248	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.519_531delGAAGTCTATCTCG	9.37:g.135797338_135797350delCGAGATAGACTTC	ENSP00000298552:p.Ala173fs		B7Z897|Q5VVN5	Frame_Shift_Del	DEL	ENST00000298552.3	37	CCDS6956.1																																																																																				0.479	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054799.1			-	135797350	CGAGATAGACTTC	-	135797338	7	5	695	1	0	1	0	1	0	0	0	0	16610	1045	37	0	3031	0	TSC1	9	135797338	Frame_Shift_Del	DEL	CGAGATAGACTTC	TCGA-KL-8326-01A-11D-2310-10	1	135797338	5416093	37	38526	298	2									
CUBN	8029	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	10	16941101	16941101	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr10:16941101C>T	ENST00000377833.4	-	54	8557	c.8492G>A	c.(8491-8493)tGt>tAt	p.C2831Y		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2831	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)	CGTCCAGGAACATCTGCTGTT	0.428																																																0													159	145	150					10																	16941101		2203	4300	6503	SO:0001583	missense	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.8492G>A	10.37:g.16941101C>T	ENSP00000367064:p.Cys2831Tyr		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	19.09	3.760183	0.69763	.	.	ENSG00000107611	ENST00000377833	T	0.66280	-0.2	5.63	5.63	0.86233	CUB (5);	0.000000	0.51477	D	0.000095	D	0.86029	0.5835	H	0.95917	3.74	0.80722	D	1	D	0.60160	0.987	D	0.66497	0.944	D	0.89731	0.3926	10	0.87932	D	0	.	20.0433	0.97601	0.0:1.0:0.0:0.0	.	2831	O60494	CUBN_HUMAN	Y	2831	ENSP00000367064:C2831Y	ENSP00000367064:C2831Y	C	-	2	0	CUBN	16981107	1.000000	0.71417	0.999000	0.59377	0.465000	0.32709	7.396000	0.79891	2.817000	0.96982	0.561000	0.74099	TGT		0.428	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		T	16941101	C	T	16941101	3	4	695	1	0	0	0	0	1	0	0	0	4053	478	17	2	2435	2	CUBN	10	16941101	Missense_Mutation	SNP	C	TCGA-KL-8326-01A-11D-2310-10		16941101	118593646	38	38527											
SIRT1	23411	broad.mit.edu	37	10	69644881	69644883	+	In_Frame_Del	DEL	GGC	GGC	-	rs561432931|rs36062014	byFrequency	TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	GGC	GGC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr10:69644881_69644883delGGC	ENST00000212015.6	+	1	455_457	c.402_404delGGC	c.(400-405)gaggcg>gag	p.A139del	SIRT1_ENST00000432464.1_5'Flank	NM_012238.4	NP_036370.2	Q96EB6	SIR1_HUMAN	sirtuin 1	139	Interaction with CLOCK. {ECO:0000250|UniProtKB:Q923E4}.|Interaction with HIST1H1E.				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						aggaggaagaggcggcggcggcg	0.7														4	0.000798722	0.0023	0.0	5008	,	,		11397	0.0		0.0	False		,,,				2504	0.001															0										22,2122		7,8,1057						2.8	1			3	14,4796		4,6,2395	no	coding	SIRT1	NM_012238.4		11,14,3452	A1A1,A1R,RR		0.2911,1.0261,0.5177				36,6918				SO:0001651	inframe_deletion	23411			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.402_404delGGC	10.37:g.69644890_69644892delGGC	ENSP00000212015:p.Ala139del		Q2XNF6|Q5JVQ0|Q9GZR9|Q9Y6F0	In_Frame_Del	DEL	ENST00000212015.6	37	CCDS7273.1																																																																																				0.7	SIRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048296.1			-	69644883	GGC	-	69644881	7	5	695	1	0	1	0	1	0	0	0	0	14343	991	35	0	404	0	SIRT1	10	69644881	In_Frame_Del	DEL	GGC	TCGA-KL-8326-01A-11D-2310-10	52703780	69644881	65889866	39	38528											
AIFM2	84883	ucsc.edu	37	10	71877654	71877654	+	Missense_Mutation	SNP	A	A	C			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr10:71877654A>C	ENST00000307864.1	-	6	743	c.530T>G	c.(529-531)gTg>gGg	p.V177G	AIFM2_ENST00000373248.1_Missense_Mutation_p.V177G|AIFM2_ENST00000482166.1_5'UTR	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	Q9BRQ8	AIFM2_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 2	177					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						AGCCAGGGCCACTTGGGAGTG	0.592																																																0													74	69	71					10																	71877654		2203	4300	6503	SO:0001583	missense	84883			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.530T>G	10.37:g.71877654A>C	ENSP00000312370:p.Val177Gly		B3KXI0|Q63Z39	Missense_Mutation	SNP	ENST00000307864.1	37	CCDS7297.1	.	.	.	.	.	.	.	.	.	.	A	8.823	0.937925	0.18206	.	.	ENSG00000042286	ENST00000373248;ENST00000307864;ENST00000395039	T;T	0.56444	0.46;0.46	5.58	4.44	0.53790	Pyridine nucleotide-disulphide oxidoreductase, NAD-binding domain (1);Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.538267	0.21743	N	0.069795	T	0.28863	0.0716	N	0.03324	-0.35	0.21627	N	0.999619	B	0.27166	0.17	B	0.32289	0.143	T	0.18493	-1.0335	10	0.23302	T	0.38	-12.9655	10.0053	0.41953	0.8647:0.0:0.1353:0.0	.	177	Q9BRQ8	AIFM2_HUMAN	G	177;177;137	ENSP00000362345:V177G;ENSP00000312370:V177G	ENSP00000312370:V177G	V	-	2	0	AIFM2	71547660	0.000000	0.05858	0.026000	0.17262	0.898000	0.52572	1.364000	0.34171	2.133000	0.65898	0.402000	0.26972	GTG		0.592	AIFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048487.1	NM_032797		C	71877654	A	C	71877654	3	2	695	1	0	0	0	0	1	0	0	0	427	159	6	5	607	5	AIFM2	10	71877654	Missense_Mutation	SNP	A	TCGA-KL-8326-01A-11D-2310-10	2232773	71877654	63657093	40	38529											
CYP26C1	340665	ucsc.edu	37	10	94825774	94825774	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr10:94825774T>C	ENST00000285949.5	+	5	923	c.923T>C	c.(922-924)cTc>cCc	p.L308P		NM_183374.2	NP_899230.2	Q6V0L0	CP26C_HUMAN	cytochrome P450, family 26, subfamily C, polypeptide 1	308					anterior/posterior pattern specification (GO:0009952)|central nervous system development (GO:0007417)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|neural crest cell development (GO:0014032)|organelle fusion (GO:0048284)|oxidation-reduction process (GO:0055114)|retinoic acid catabolic process (GO:0034653)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|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)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			central_nervous_system(1)|lung(3)|ovary(1)	5		Colorectal(252;0.122)				AGCACCTCGCTCGTCCTGCTG	0.716																																																0													9	9	9					10																	94825774		2166	4233	6399	SO:0001583	missense	340665				CCDS7425.1	10q23.33	2003-11-20			ENSG00000187553	ENSG00000187553		"Cytochrome P450s"	20577	protein-coding gene	gene with protein product		608428					Standard	XR_246086		Approved		uc010qns.2	Q6V0L0	OTTHUMG00000018766	ENST00000285949.5:c.923T>C	10.37:g.94825774T>C	ENSP00000285949:p.Leu308Pro		Q5VXH6	Missense_Mutation	SNP	ENST00000285949.5	37	CCDS7425.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.612459	0.87258	.	.	ENSG00000187553	ENST00000285949	T	0.69561	-0.41	5.27	5.27	0.74061	.	0.139535	0.49305	D	0.000149	D	0.82342	0.5016	M	0.80847	2.515	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85090	0.0951	10	0.72032	D	0.01	-31.2296	15.2251	0.73345	0.0:0.0:0.0:1.0	.	308	Q6V0L0	CP26C_HUMAN	P	308	ENSP00000285949:L308P	ENSP00000285949:L308P	L	+	2	0	CYP26C1	94815764	1.000000	0.71417	0.965000	0.40720	0.836000	0.47400	7.973000	0.88032	1.997000	0.58415	0.397000	0.26171	CTC		0.716	CYP26C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049409.2	NM_183374		C	94825774	T	C	94825774	3	2	695	1	0	0	0	0	1	0	0	0	4159	1551	54	3	941	3	CYP26C1	10	94825774	Missense_Mutation	SNP	T	TCGA-KL-8326-01A-11D-2310-10	22948120	94825774	40708973	41	38530											
BLNK	29760	broad.mit.edu;hgsc.bcm.edu	37	10	98006782	98006782	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr10:98006782T>C	ENST00000224337.5	-	2	212	c.71A>G	c.(70-72)gAt>gGt	p.D24G	BLNK_ENST00000413476.2_Missense_Mutation_p.D24G|BLNK_ENST00000495266.1_Missense_Mutation_p.D24G|BLNK_ENST00000371176.2_Missense_Mutation_p.D24G|BLNK_ENST00000427367.2_Missense_Mutation_p.D24G	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker	24					B cell differentiation (GO:0030183)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		GTTTTTAATATCATGGACCAT	0.269																																																0													63	75	71					10																	98006782		2203	4296	6499	SO:0001583	missense	29760			AF068180	CCDS7446.1, CCDS44464.1, CCDS58091.1, CCDS73171.1	10q23.2-q23.33	2014-09-17			ENSG00000095585	ENSG00000095585		"SH2 domain containing"	14211	protein-coding gene	gene with protein product	"B-cell adapter containing a SH2 domain protein", "B-cell activation", "Src homology [SH2] domain-containing leukocyte protein of 65 kD", "B cell adaptor containing SH2 domain"	604515				9697839, 10583958	Standard	NM_013314		Approved	SLP65, Ly57, SLP-65, BLNK-s, BASH, bca	uc001kls.4	Q8WV28	OTTHUMG00000018827	ENST00000224337.5:c.71A>G	10.37:g.98006782T>C	ENSP00000224337:p.Asp24Gly		O75498|O75499|Q2MD49	Missense_Mutation	SNP	ENST00000224337.5	37	CCDS7446.1	.	.	.	.	.	.	.	.	.	.	T	14.33	2.503963	0.44558	.	.	ENSG00000095585	ENST00000224337;ENST00000371176;ENST00000427367;ENST00000413476;ENST00000537049;ENST00000393894;ENST00000393889;ENST00000428924;ENST00000393898	.	.	.	5.85	4.52	0.55395	.	0.089414	0.85682	D	0.000000	T	0.60599	0.2281	M	0.78801	2.425	0.45662	D	0.998581	B;B;B;B;B	0.27997	0.004;0.197;0.096;0.004;0.153	B;B;B;B;B	0.27796	0.011;0.083;0.038;0.011;0.052	T	0.65450	-0.6165	9	0.72032	D	0.01	-28.8439	8.3876	0.32510	0.0:0.0998:0.0:0.9002	.	24;24;24;24;24	Q2MD54;Q2MD49;Q8WV28-2;Q2MD59;Q8WV28	.;.;.;.;BLNK_HUMAN	G	24;24;24;24;24;24;24;24;37	.	ENSP00000224337:D24G	D	-	2	0	BLNK	97996772	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.966000	0.49208	2.235000	0.73313	0.482000	0.46254	GAT		0.269	BLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049593.1	NM_013314		C	98006782	T	C	98006782	3	2	695	1	0	0	0	0	1	0	0	0	1447	1435	50	3	1363	3	BLNK	10	98006782	Missense_Mutation	SNP	T	TCGA-KL-8326-01A-11D-2310-10	3181008	98006782	37527965	42	38531											
C11orf20	25858	broad.mit.edu	37	11	64068336	64068336	+	Missense_Mutation	SNP	T	T	G			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr11:64068336T>G	ENST00000328404.6	+	2	249	c.229T>G	c.(229-231)Tac>Gac	p.Y77D	TEX40_ENST00000539943.1_Missense_Mutation_p.Y35D|RP11-783K16.10_ENST00000539086.1_RNA	NM_001039496.1	NP_001034585.1	Q9NTU4	TEX40_HUMAN	testis expressed 40	77					cell differentiation (GO:0030154)|male meiosis (GO:0007140)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)											GGACGAGGGGTACAAGGCCAG	0.667											OREG0021050	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													7	10	9					11																	64068336		2013	4129	6142	SO:0001583	missense	25858					11q13.1	2013-01-11	2013-01-11	2013-01-11	ENSG00000219435	ENSG00000219435			19231	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 20"	C11orf20			Standard	NM_001039496		Approved	DKFZP566E164	uc009ypm.3	Q9NTU4	OTTHUMG00000167820	ENST00000328404.6:c.229T>G	11.37:g.64068336T>G	ENSP00000330877:p.Tyr77Asp	1073		Missense_Mutation	SNP	ENST00000328404.6	37		.	.	.	.	.	.	.	.	.	.	T	9.160	1.018388	0.19355	.	.	ENSG00000219435	ENST00000328404;ENST00000539943	T;T	0.40756	1.02;1.08	4.02	-1.11	0.09840	.	.	.	.	.	T	0.14056	0.0340	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19192	-1.0313	9	0.31617	T	0.26	.	3.455	0.07512	0.2683:0.0:0.2858:0.4459	.	77	Q9NTU4	CK020_HUMAN	D	77;35	ENSP00000330877:Y77D;ENSP00000443917:Y35D	ENSP00000330877:Y77D	Y	+	1	0	C11orf20	63824912	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.006000	0.12833	-0.195000	0.10382	-0.249000	0.11873	TAC		0.667	TEX40-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001039496		G	64068336	T	G	64068336	3	3	695	1	0	0	0	0	1	0	0	0	1636	1638	57	5	235	5	C11orf20	11	64068336	Missense_Mutation	SNP	T	TCGA-KL-8326-01A-11D-2310-10		64068336	70938180	43	38532											
MTL5	9633	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	11	68514791	68514791	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr11:68514791G>A	ENST00000255087.5	-	3	698	c.515C>T	c.(514-516)cCg>cTg	p.P172L	MTL5_ENST00000544963.1_Missense_Mutation_p.P172L|MTL5_ENST00000443940.2_Missense_Mutation_p.P172L|MTL5_ENST00000540869.1_5'UTR	NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	172					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)	p.P172Q(1)		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)			TGCTTCTTCCGGATTATTACT	0.423																																																1	Substitution - Missense(1)	lung(1)											134	128	130					11																	68514791		2200	4294	6494	SO:0001583	missense	9633			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.515C>T	11.37:g.68514791G>A	ENSP00000255087:p.Pro172Leu		A8K8J3|Q4G182|Q6P2E2|Q8NCC8	Missense_Mutation	SNP	ENST00000255087.5	37	CCDS8184.1	.	.	.	.	.	.	.	.	.	.	G	1.720	-0.496866	0.04291	.	.	ENSG00000132749	ENST00000255087;ENST00000443940;ENST00000544963	T;T;T	0.42131	1.59;0.98;1.57	5.1	-2.27	0.06846	.	1.095660	0.06919	N	0.809035	T	0.20700	0.0498	N	0.12746	0.255	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.04013	0.001;0.001;0.0	T	0.19943	-1.0290	10	0.26408	T	0.33	-1.9232	4.6009	0.12352	0.3337:0.0:0.385:0.2813	.	172;155;172	Q9Y4I5-3;Q6PHY4;Q9Y4I5	.;.;MTL5_HUMAN	L	172	ENSP00000255087:P172L;ENSP00000403086:P172L;ENSP00000440968:P172L	ENSP00000255087:P172L	P	-	2	0	MTL5	68271367	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.165000	0.09968	-0.189000	0.10482	-0.215000	0.12644	CCG		0.423	MTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396844.1	NM_004923		A	68514791	G	A	68514791	3	1	695	1	0	0	0	0	1	0	0	0	9938	1116	39	1	1047	1	MTL5	11	68514791	Missense_Mutation	SNP	G	TCGA-KL-8326-01A-11D-2310-10	4446455	68514791	66491725	44	38533											
DYNC2H1	79659	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	11	103153739	103153739	+	Missense_Mutation	SNP	C	C	A			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr11:103153739C>A	ENST00000375735.2	+	73	10959	c.10815C>A	c.(10813-10815)gaC>gaA	p.D3605E	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.D3612E|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	3605					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)		TATTAAAGGACTCTCAACAAA	0.313																																																0													59	58	59					11																	103153739		1809	4063	5872	SO:0001583	missense	79659			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.10815C>A	11.37:g.103153739C>A	ENSP00000364887:p.Asp3605Glu		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	C	7.276	0.608177	0.14002	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.27890	1.64;1.64	5.05	-0.757	0.11054	.	0.224065	0.40818	N	0.001016	T	0.15609	0.0376	L	0.29908	0.895	0.58432	D	0.999999	B;B	0.19445	0.021;0.036	B;B	0.23852	0.022;0.049	T	0.30001	-0.9993	10	0.02654	T	1	.	8.4751	0.33007	0.0:0.3211:0.0:0.6789	.	3605;3612	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	E	3605;3612	ENSP00000364887:D3605E;ENSP00000381167:D3612E	ENSP00000364887:D3605E	D	+	3	2	DYNC2H1	102658949	0.970000	0.33590	0.998000	0.56505	0.978000	0.69477	-0.088000	0.11198	0.014000	0.14944	0.460000	0.39030	GAC		0.313	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		A	103153739	C	A	103153739	3	1	695	1	0	0	0	0	1	0	0	0	4848	564	20	4	11130	4	DYNC2H1	11	103153739	Missense_Mutation	SNP	C	TCGA-KL-8326-01A-11D-2310-10	34638948	103153739	31852777	45	38534											
ZBTB16	7704	hgsc.bcm.edu;mdanderson.org	37	11	113934295	113934295	+	Silent	SNP	G	G	T			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr11:113934295G>T	ENST00000335953.4	+	2	653	c.273G>T	c.(271-273)acG>acT	p.T91T	ZBTB16_ENST00000392996.2_Silent_p.T91T	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	91	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|cartilage development (GO:0051216)|central nervous system development (GO:0007417)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic pattern specification (GO:0009880)|forelimb morphogenesis (GO:0035136)|hemopoiesis (GO:0030097)|male germ-line stem cell asymmetric division (GO:0048133)|mesonephros development (GO:0001823)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of ossification (GO:0045778)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear body (GO:0016604)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		ATACAGCCACGCTGCAAGCCA	0.527																																																0													72	62	66					11																	113934295		2201	4296	6497	SO:0001819	synonymous_variant	7704			Z19002	CCDS8367.1	11q23	2013-10-17	2004-07-16	2004-07-16	ENSG00000109906	ENSG00000109906		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	12930	protein-coding gene	gene with protein product	"promyelocytic leukaemia zinc finger"	176797	"zinc finger protein 145 (Kruppel-like, expressed in promyelocytic leukemia)"	ZNF145			Standard	XM_006718899		Approved	PLZF	uc001poq.3	Q05516	OTTHUMG00000168243	ENST00000335953.4:c.273G>T	11.37:g.113934295G>T			Q8TAL4	Silent	SNP	ENST00000335953.4	37	CCDS8367.1																																																																																				0.527	ZBTB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398940.1	NM_006006		T	113934295	G	T	113934295	2	4	695	1	0	0	0	0	0	0	0	1	17531	1074	38	4		4	ZBTB16	11	113934295	Silent	SNP	G	TCGA-KL-8326-01A-11D-2310-10	10780556	113934295	21072221	46	38535											
OR6T1	219874	broad.mit.edu	37	11	123814285	123814285	+	Silent	SNP	C	C	T			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr11:123814285C>T	ENST00000321252.2	-	1	295	c.261G>A	c.(259-261)acG>acA	p.T87T		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	87						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T87T(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		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)		TGTGATCCCCCGTGAGGATGA	0.507																																																1	Substitution - coding silent(1)	lung(1)											122	99	107					11																	123814285		2202	4299	6501	SO:0001819	synonymous_variant	219874			AB065759	CCDS31700.1	11q24.1	2012-08-09			ENSG00000181499	ENSG00000181499		"GPCR / Class A : Olfactory receptors"	14848	protein-coding gene	gene with protein product							Standard	NM_001005187		Approved		uc010sab.2	Q8NGN1	OTTHUMG00000165962	ENST00000321252.2:c.261G>A	11.37:g.123814285C>T			Q6IFE7	Silent	SNP	ENST00000321252.2	37	CCDS31700.1																																																																																				0.507	OR6T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387264.1	NM_001005187		T	123814285	C	T	123814285	2	4	695	1	0	0	0	0	0	0	0	1	11212	639	23	1		1	OR6T1	11	123814285	Silent	SNP	C	TCGA-KL-8326-01A-11D-2310-10	9879990	123814285	11192231	47	38536											
OR10G8	219869	mdanderson.org	37	11	123900382	123900382	+	Missense_Mutation	SNP	C	C	T	rs73028928	byFrequency	TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr11:123900382C>T	ENST00000431524.1	+	1	86	c.53C>T	c.(52-54)gCc>gTc	p.A18V		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	18						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)		CTTCCCCATGCCCCAGCGCTG	0.572																																																0													180	171	174					11																	123900382		2201	4299	6500	SO:0001583	missense	219869			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.53C>T	11.37:g.123900382C>T	ENSP00000389072:p.Ala18Val		B2RNJ3|Q6IEV2	Missense_Mutation	SNP	ENST00000431524.1	37	CCDS31704.1	.	.	.	.	.	.	.	.	.	.	C	10.35	1.326961	0.24080	.	.	ENSG00000234560	ENST00000431524	T	0.01099	5.34	2.95	2.95	0.34219	.	0.922077	0.09000	N	0.863091	T	0.00784	0.0026	N	0.04994	-0.135	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.46555	-0.9183	10	0.39692	T	0.17	.	4.9369	0.13944	0.0:0.7325:0.0:0.2675	.	18	Q8NGN5	O10G8_HUMAN	V	18	ENSP00000389072:A18V	ENSP00000389072:A18V	A	+	2	0	OR10G8	123405592	0.000000	0.05858	0.047000	0.18901	0.004000	0.04260	-1.793000	0.01755	1.634000	0.50500	0.585000	0.79938	GCC		0.572	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		T	123900382	C	T	123900382	3	4	695	1	0	0	0	0	1	0	0	0	10905	739	26	2	55	2	OR10G8	11	123900382	Missense_Mutation	SNP	C	TCGA-KL-8326-01A-11D-2310-10	86097	123900382	11106134	48	38537											
LETMD1	25875	broad.mit.edu;bcgsc.ca	37	12	51449713	51449713	+	Missense_Mutation	SNP	C	C	G			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr12:51449713C>G	ENST00000262055.4	+	5	608	c.569C>G	c.(568-570)tCc>tGc	p.S190C	LETMD1_ENST00000418425.2_Missense_Mutation_p.S203C|LETMD1_ENST00000547008.1_Intron|LETMD1_ENST00000552739.1_Missense_Mutation_p.S73C|LETMD1_ENST00000548516.1_Intron|LETMD1_ENST00000380123.2_3'UTR|LETMD1_ENST00000550929.1_Missense_Mutation_p.S134C	NM_015416.4	NP_056231.3	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1	190	LETM1.					integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)				central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						CGGAAGCAGTCCCACCCAGAA	0.448																																																0													94	95	95					12																	51449713		2203	4300	6503	SO:0001583	missense	25875			AF195651	CCDS8806.1, CCDS58231.1, CCDS73469.1	12q13.13	2006-04-12				ENSG00000050426			24241	protein-coding gene	gene with protein product	"cervical cancer 1 protooncogene"					12879013, 12061725	Standard	NM_015416		Approved	HCCR1	uc009zlw.3	Q6P1Q0	OTTHUMG00000169538	ENST00000262055.4:c.569C>G	12.37:g.51449713C>G	ENSP00000262055:p.Ser190Cys		A6NER7|B3KXK7|Q6X2E4|Q6X2E5|Q7L2G9|Q7L690|Q8WXW6|Q96PK7|Q9BY59|Q9Y3X3	Missense_Mutation	SNP	ENST00000262055.4	37	CCDS8806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.21|16.21	3.059884|3.059884	0.55325|0.55325	.|.	.|.	ENSG00000050426|ENSG00000050426	ENST00000551931|ENST00000551477;ENST00000550755;ENST00000550929;ENST00000262055;ENST00000549340;ENST00000418425;ENST00000448283;ENST00000552739	.|T;T;T;T;T;T	.|0.43294	.|0.95;0.95;0.95;0.95;0.95;0.95	5.08|5.08	5.08|5.08	0.68730|0.68730	.|LETM1-like (1);	.|0.296675	.|0.37437	.|N	.|0.002081	T|T	0.51398|0.51398	0.1672|0.1672	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	.|D;P;D;P	.|0.58268	.|0.982;0.936;0.975;0.794	.|P;P;P;P	.|0.56343	.|0.789;0.552;0.796;0.552	T|T	0.37549|0.37549	-0.9701|-0.9701	5|10	.|0.35671	.|T	.|0.21	-6.2246|-6.2246	17.7887|17.7887	0.88546|0.88546	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|140;203;73;190	.|F8VVQ3;B3KXK7;F8VP71;Q6P1Q0	.|.;.;.;LTMD1_HUMAN	A|C	8|157;96;134;190;140;203;140;73	.|ENSP00000446862:S157C;ENSP00000450163:S134C;ENSP00000262055:S190C;ENSP00000449896:S140C;ENSP00000389903:S203C;ENSP00000450333:S73C	.|ENSP00000262055:S190C	P|S	+|+	1|2	0|0	LETMD1|LETMD1	49735980|49735980	0.994000|0.994000	0.37717|0.37717	1.000000|1.000000	0.80357|0.80357	0.907000|0.907000	0.53573|0.53573	2.032000|2.032000	0.41127|0.41127	2.826000|2.826000	0.97356|0.97356	0.655000|0.655000	0.94253|0.94253	CCC|TCC		0.448	LETMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404710.1	NM_015416		G	51449713	C	G	51449713	3	3	695	1	0	0	0	0	1	0	0	0	8738	855	30	4	587	4	LETMD1	12	51449713	Missense_Mutation	SNP	C	TCGA-KL-8326-01A-11D-2310-10		51449713	82402182	49	38538											
NR4A1	3164	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	12	52448851	52448851	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr12:52448851G>A	ENST00000243050.1	+	3	1053	c.739G>A	c.(739-741)Gat>Aat	p.D247N	NR4A1_ENST00000545748.1_Missense_Mutation_p.D301N|NR4A1_ENST00000394824.2_Missense_Mutation_p.D247N|NR4A1_ENST00000548232.1_Missense_Mutation_p.D247N|NR4A1_ENST00000360284.3_Missense_Mutation_p.D260N|NR4A1_ENST00000394825.1_Missense_Mutation_p.D247N|NR4A1_ENST00000550082.1_Missense_Mutation_p.D260N	NM_002135.4	NP_002126.2	P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	247					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell chemotaxis (GO:0035767)|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)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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 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)			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		GGGGATACTGGATACACCCGT	0.627																																																0													74	82	79					12																	52448851		2203	4300	6503	SO:0001583	missense	3164			L13740	CCDS8818.1, CCDS55828.1, CCDS73471.1	12q13	2013-01-16			ENSG00000123358	ENSG00000123358		"Nuclear hormone receptors"	7980	protein-coding gene	gene with protein product		139139		HMR, GFRP1		2626032	Standard	NM_002135		Approved	TR3, N10, NAK-1, NGFIB, NUR77	uc001rzt.3	P22736	OTTHUMG00000150393	ENST00000243050.1:c.739G>A	12.37:g.52448851G>A	ENSP00000243050:p.Asp247Asn		B4DML7|Q15627|Q53Y00|Q6IBU8	Missense_Mutation	SNP	ENST00000243050.1	37	CCDS8818.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.092444	0.55968	.	.	ENSG00000123358	ENST00000360284;ENST00000545748;ENST00000550082;ENST00000243050;ENST00000394825;ENST00000394824;ENST00000548232	D;D;D;D;D;D;D	0.92858	-3.09;-3.11;-3.09;-3.09;-3.09;-3.09;-3.12	4.93	4.04	0.47022	.	1.015660	0.07897	N	0.972056	D	0.83797	0.5332	N	0.08118	0	0.54753	D	0.999983	B;B;B	0.26876	0.115;0.093;0.162	B;B;B	0.23419	0.035;0.046;0.034	T	0.70684	-0.4804	10	0.24483	T	0.36	.	12.6278	0.56640	0.0818:0.0:0.9182:0.0	.	260;247;247	B4DML7;P22736;Q15627	.;NR4A1_HUMAN;.	N	260;301;260;247;247;247;247	ENSP00000353427:D260N;ENSP00000440864:D301N;ENSP00000449539:D260N;ENSP00000243050:D247N;ENSP00000378302:D247N;ENSP00000378301:D247N;ENSP00000449587:D247N	ENSP00000243050:D247N	D	+	1	0	NR4A1	50735118	1.000000	0.71417	0.964000	0.40570	0.521000	0.34408	3.150000	0.50662	1.451000	0.47736	0.561000	0.74099	GAT		0.627	NR4A1-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000317922.2			A	52448851	G	A	52448851	3	1	695	1	0	0	0	0	1	0	0	0	10634	1174	41	2	741	2	NR4A1	12	52448851	Missense_Mutation	SNP	G	TCGA-KL-8326-01A-11D-2310-10	999138	52448851	81403044	50	38539											
NBEA	26960	broad.mit.edu	37	13	36167554	36167554	+	Silent	SNP	A	A	G			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr13:36167554A>G	ENST00000400445.3	+	47	7800	c.7266A>G	c.(7264-7266)agA>agG	p.R2422R	NBEA_ENST00000537702.1_Silent_p.R215R|NBEA_ENST00000379939.2_Silent_p.R2419R|NBEA_ENST00000379922.3_5'UTR|NBEA_ENST00000310336.4_Silent_p.R2422R|NBEA_ENST00000540320.1_Silent_p.R2422R	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2422	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026, ECO:0000305}.				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)		GGTCTTGGAGAACTAGTCAGA	0.343																																																0													130	117	121					13																	36167554		1834	4082	5916	SO:0001819	synonymous_variant	26960			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.7266A>G	13.37:g.36167554A>G			B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Silent	SNP	ENST00000400445.3	37	CCDS45026.1																																																																																				0.343	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		G	36167554	A	G	36167554	2	3	695	1	0	0	0	0	0	0	0	1	10189	243	9	3		3	NBEA	13	36167554	Silent	SNP	A	TCGA-KL-8326-01A-11D-2310-10		36167554	79002324	51	38540											
FAM70B	348013	bcgsc.ca	37	13	114514867	114514867	+	Nonsense_Mutation	SNP	C	C	A	rs9604467	byFrequency	TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr13:114514867C>A	ENST00000375353.3	+	9	999	c.972C>A	c.(970-972)taC>taA	p.Y324*	TMEM255B_ENST00000467169.1_3'UTR	NM_182614.2	NP_872420.1	Q8WV15	T255B_HUMAN	transmembrane protein 255B	324	Pro-rich.					integral component of membrane (GO:0016021)											CACCCCCCTACGCACCCTGAT	0.552																																																0													56	75	69					13																	114514867		2187	4287	6474	SO:0001587	stop_gained	348013			BC018995	CCDS45071.1	13q34	2012-11-30	2012-11-30	2012-11-30	ENSG00000184497	ENSG00000184497			28297	protein-coding gene	gene with protein product			"family with sequence similarity 70, member B"	FAM70B		12477932	Standard	NM_182614		Approved	MGC20579	uc001vuh.3	Q8WV15	OTTHUMG00000017398	ENST00000375353.3:c.972C>A	13.37:g.114514867C>A	ENSP00000364502:p.Tyr324*			Nonsense_Mutation	SNP	ENST00000375353.3	37	CCDS45071.1	.	.	.	.	.	.	.	.	.	.	c	7.542	0.660962	0.14645	.	.	ENSG00000184497	ENST00000375353	.	.	.	4.72	-2.34	0.06704	.	.	.	.	.	.	.	.	.	.	.	0.25112	N	0.99071	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.5381	12.3595	0.55194	0.0:0.5423:0.0:0.4577	rs9604467	.	.	.	X	324	.	ENSP00000364502:Y324X	Y	+	3	2	FAM70B	113599076	0.000000	0.05858	0.026000	0.17262	0.031000	0.12232	-0.914000	0.04038	-0.444000	0.07170	-1.279000	0.01387	TAC		0.552	TMEM255B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045953.4	NM_182614		A	114514867	C	A	114514867	4	1	695	1	0	0	0	0	0	1	0	0	5608	547	19	4	1006	4	FAM70B	13	114514867	Nonsense_Mutation	SNP	C	TCGA-KL-8326-01A-11D-2310-10	78347313	114514867	655011	52	38541											
RALGAPA1	253959	broad.mit.edu	37	14	36190999	36190999	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr14:36190999T>C	ENST00000389698.3	-	16	2551	c.2161A>G	c.(2161-2163)Agt>Ggt	p.S721G	RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000258840.6_Missense_Mutation_p.S721G|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.S721G|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.S721G	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	721					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						TGATCACGACTCCATCCTCTA	0.433																																																0													102	95	98					14																	36190999		2203	4297	6500	SO:0001583	missense	253959			AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"tuberin-like protein 1", "GAP-related interacting protein to E12"	608884	"GTPase activating RANGAP domain-like 1", "GTPase activating Rap/RanGAP domain-like 1"	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.2161A>G	14.37:g.36190999T>C	ENSP00000374348:p.Ser721Gly		A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	ENST00000389698.3	37	CCDS32065.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.724374	0.89298	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000382366;ENST00000553892	D;D;D;D;D	0.94828	-3.53;-3.53;-3.52;-3.53;-3.52	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.96163	0.8749	L	0.54323	1.7	0.80722	D	1	D;D;D;D;D	0.76494	0.996;0.994;0.999;0.976;0.965	D;D;D;P;P	0.83275	0.99;0.977;0.996;0.882;0.549	D	0.95302	0.8404	10	0.33141	T	0.24	-16.8152	16.1864	0.81955	0.0:0.0:0.0:1.0	.	721;721;721;721;721	Q6GYQ0-6;B9EK38;Q6GYQ0-3;Q6GYQ0-2;Q6GYQ0	.;.;.;.;RGPA1_HUMAN	G	721	ENSP00000374348:S721G;ENSP00000302647:S721G;ENSP00000258840:S721G;ENSP00000371803:S721G;ENSP00000451877:S721G	ENSP00000258840:S721G	S	-	1	0	RALGAPA1	35260750	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.803000	0.85983	2.281000	0.76405	0.528000	0.53228	AGT		0.433	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		C	36190999	T	C	36190999	3	2	695	1	0	0	0	0	1	0	0	0	13019	1551	54	3	4202	3	RALGAPA1	14	36190999	Missense_Mutation	SNP	T	TCGA-KL-8326-01A-11D-2310-10		36190999	71158541	53	38542											
YLPM1	56252	broad.mit.edu	37	14	75301975	75301975	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr14:75301975G>A	ENST00000552421.1	+	19	4308	c.4184G>A	c.(4183-4185)tGg>tAg	p.W1395*	YLPM1_ENST00000325680.7_Nonsense_Mutation_p.W2101*			P49750	YLPM1_HUMAN	YLP motif containing 1	1906					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)		TAGGTCAGATGGGCAGACCTG	0.458																																																0													90	89	89					14																	75301975		1885	4112	5997	SO:0001587	stop_gained	56252			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	ENST00000552421.1:c.4184G>A	14.37:g.75301975G>A	ENSP00000447921:p.Trp1395*		P49752|Q96I64|Q9P1V7	Nonsense_Mutation	SNP	ENST00000552421.1	37		.	.	.	.	.	.	.	.	.	.	G	47	13.313461	0.99734	.	.	ENSG00000119596	ENST00000552421;ENST00000325680	.	.	.	5.26	5.26	0.73747	.	0.000000	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.0283	18.8429	0.92192	0.0:0.0:1.0:0.0	.	.	.	.	X	1395;2101	.	ENSP00000324463:W2101X	W	+	2	0	YLPM1	74371728	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.446000	0.82766	0.563000	0.77884	TGG		0.458	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589		A	75301975	G	A	75301975	4	1	695	1	0	0	0	0	0	1	0	0	17491	1357	47	2	6380	2	YLPM1	14	75301975	Nonsense_Mutation	SNP	G	TCGA-KL-8326-01A-11D-2310-10	39110976	75301975	32047565	54	38543											
JAG2	3714	ucsc.edu	37	14	105614515	105614515	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr14:105614515T>C	ENST00000331782.3	-	17	2589	c.2186A>G	c.(2185-2187)gAc>gGc	p.D729G	JAG2_ENST00000347004.2_Missense_Mutation_p.D691G	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	729	EGF-like 13. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)		GTCGCCGCTGTCGTAGCAGGT	0.716																																																0													16	11	13					14																	105614515		2102	4139	6241	SO:0001583	missense	3714			AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.2186A>G	14.37:g.105614515T>C	ENSP00000328169:p.Asp729Gly		Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Missense_Mutation	SNP	ENST00000331782.3	37	CCDS9998.1	.	.	.	.	.	.	.	.	.	.	t	16.98	3.270379	0.59540	.	.	ENSG00000184916	ENST00000331782;ENST00000347004	D;D	0.95554	-3.74;-3.74	4.67	4.67	0.58626	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.054503	0.64402	D	0.000001	D	0.97096	0.9051	M	0.75447	2.3	0.58432	D	0.999994	D;D	0.71674	0.998;0.997	D;D	0.69824	0.966;0.925	D	0.97501	1.0060	10	0.72032	D	0.01	.	12.926	0.58260	0.0:0.0:0.0:1.0	.	691;729	Q9Y219-2;Q9Y219	.;JAG2_HUMAN	G	729;691	ENSP00000328169:D729G;ENSP00000328566:D691G	ENSP00000328169:D729G	D	-	2	0	JAG2	104685560	1.000000	0.71417	0.974000	0.42286	0.013000	0.08279	4.099000	0.57755	1.745000	0.51790	0.254000	0.18369	GAC		0.716	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2			C	105614515	T	C	105614515	3	2	695	1	0	0	0	0	1	0	0	0	7937	1667	58	3	1570	3	JAG2	14	105614515	Missense_Mutation	SNP	T	TCGA-KL-8326-01A-11D-2310-10	30312540	105614515	1735025	55	38544											
CEP152	22995	broad.mit.edu	37	15	49052452	49052452	+	Silent	SNP	A	A	T			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr15:49052452A>T	ENST00000380950.2	-	19	2761	c.2574T>A	c.(2572-2574)gcT>gcA	p.A858A	CEP152_ENST00000399334.3_Silent_p.A858A|CEP152_ENST00000325747.5_Silent_p.A765A	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	858					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)		CATTTTGCACAGCTATTTCTA	0.393																																																0													119	111	114					15																	49052452		1859	4106	5965	SO:0001819	synonymous_variant	22995			AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"asterless"	613529	"microcephaly, primary autosomal recessive 4"	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.2574T>A	15.37:g.49052452A>T			E7ER66|Q17RV1|Q6NTA0	Silent	SNP	ENST00000380950.2	37	CCDS58361.1																																																																																				0.393	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		T	49052452	A	T	49052452	2	4	695	1	0	0	0	0	0	0	0	1	3250	175	7	5		5	CEP152	15	49052452	Silent	SNP	A	TCGA-KL-8326-01A-11D-2310-10		49052452	53478940	56	38545											
RFX7	64864	ucsc.edu	37	15	56388045	56388045	+	Silent	SNP	A	A	T			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr15:56388045A>T	ENST00000559447.2	-	9	1861	c.1590T>A	c.(1588-1590)gcT>gcA	p.A530A	RFX7_ENST00000422057.1_Silent_p.A530A|RFX7_ENST00000423270.1_Silent_p.A627A|RFX7_ENST00000317318.6_Silent_p.A627A			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	530					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						AGTTCTGAGAAGCAACTGATA	0.428																																																0													83	80	81					15																	56388045		1997	4171	6168	SO:0001819	synonymous_variant	64864					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.1590T>A	15.37:g.56388045A>T			Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Silent	SNP	ENST00000559447.2	37																																																																																					0.428	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3	NM_022841		T	56388045	A	T	56388045	2	4	695	1	0	0	0	0	0	0	0	1	13274	59	3	5		5	RFX7	15	56388045	Silent	SNP	A	TCGA-KL-8326-01A-11D-2310-10	7335593	56388045	46143347	57	38546											
NOX5	79400	broad.mit.edu	37	15	69320701	69320701	+	Silent	SNP	C	C	T			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr15:69320701C>T	ENST00000388866.3	+	3	362	c.321C>T	c.(319-321)atC>atT	p.I107I	RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000448182.3_Silent_p.I89I|NOX5_ENST00000260364.5_Silent_p.I89I|NOX5_ENST00000530406.2_Silent_p.I107I|NOX5_ENST00000455873.3_Silent_p.I100I	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	107	EF-hand 3; atypical; contains an insert of 28 residues. {ECO:0000255|PROSITE- ProRule:PRU00448}.|N-terminal regulatory region; interacts with the C-terminal catalytic region in a calcium-dependent manner.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						TGTATGACATCGATGGTAAGG	0.592																																																0													110	105	106					15																	69320701		2200	4298	6498	SO:0001819	synonymous_variant	79400			AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"EF-hand domain containing"	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.321C>T	15.37:g.69320701C>T			B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	Silent	SNP	ENST00000388866.3	37	CCDS32276.2																																																																																				0.592	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	NM_024505		T	69320701	C	T	69320701	2	4	695	1	0	0	0	0	0	0	0	1	10561	874	31	1		1	NOX5	15	69320701	Silent	SNP	C	TCGA-KL-8326-01A-11D-2310-10	12932656	69320701	33210691	58	38547											
MYH13	8735	broad.mit.edu	37	17	10263502	10263502	+	Missense_Mutation	SNP	C	C	G			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr17:10263502C>G	ENST00000418404.3	-	5	672	c.509G>C	c.(508-510)cGa>cCa	p.R170P	MYH13_ENST00000252172.4_Missense_Mutation_p.R170P			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	170	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						CTGGTTGTCTCGATCTAGAAA	0.418																																																0													85	85	85					17																	10263502		2177	4294	6471	SO:0001583	missense	8735			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.509G>C	17.37:g.10263502C>G	ENSP00000404570:p.Arg170Pro		O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.062811	0.76187	.	.	ENSG00000006788	ENST00000252172	T	0.72942	-0.7	3.94	2.96	0.34315	Myosin head, motor domain (2);	.	.	.	.	D	0.86100	0.5852	M	0.92507	3.315	0.41551	D	0.988576	D	0.59357	0.985	D	0.77557	0.99	D	0.89034	0.3444	9	0.87932	D	0	.	12.3249	0.55005	0.0:0.9118:0.0:0.0882	.	170	Q9UKX3	MYH13_HUMAN	P	170	ENSP00000252172:R170P	ENSP00000252172:R170P	R	-	2	0	MYH13	10204227	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	3.790000	0.55461	2.194000	0.70268	0.655000	0.94253	CGA		0.418	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		G	10263502	C	G	10263502	3	3	695	1	0	0	0	0	1	0	0	0	10034	884	31	4	5451	4	MYH13	17	10263502	Missense_Mutation	SNP	C	TCGA-KL-8326-01A-11D-2310-10		10263502	70931708	59	38548											
ATP6V0A1	535	mdanderson.org	37	17	40666439	40666439	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr17:40666439A>G	ENST00000343619.4	+	21	2504	c.2381A>G	c.(2380-2382)gAg>gGg	p.E794G	ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.E745G|RP11-400F19.18_ENST00000591237.1_RNA|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.E794G|ATP6V0A1_ENST00000544137.1_Missense_Mutation_p.E440G|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.E788G|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.E795G|MIR5010_ENST00000582846.1_RNA|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.E751G	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	794					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		CTGATCATGGAGGGCCTCTCG	0.622																																																0													163	138	147					17																	40666439		2203	4300	6503	SO:0001583	missense	535			U73006	CCDS11426.1, CCDS45683.1, CCDS45684.1	17q21	2010-04-21	2006-01-20	2002-05-10	ENSG00000033627	ENSG00000033627		"ATPases / V-type"	865	protein-coding gene	gene with protein product		192130	"ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD)", "ATPase, H+ transporting, lysosomal V0 subunit a isoform 1", "ATPase, H+ transporting, lysosomal V0 subunit A1"	VPP1, ATP6N1, ATP6N1A		7774924	Standard	NM_001130020		Approved	a1, Vph1, Stv1	uc002hzs.3	Q93050		ENST00000343619.4:c.2381A>G	17.37:g.40666439A>G	ENSP00000342951:p.Glu794Gly		B7Z3B7|Q8N5G7|Q9NSX0	Missense_Mutation	SNP	ENST00000343619.4	37	CCDS45684.1	.	.	.	.	.	.	.	.	.	.	A	29.1	4.977615	0.92982	.	.	ENSG00000033627	ENST00000343619;ENST00000546249;ENST00000393829;ENST00000264649;ENST00000537728;ENST00000544137	D;D;D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35;-2.35;-2.35	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	D	0.96513	0.8862	H	0.97874	4.095	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	0.97859	1.0279	10	0.87932	D	0	-20.7555	14.0846	0.64947	1.0:0.0:0.0:0.0	.	745;751;795;794;788	B7Z641;B7Z2A9;B7Z3B7;Q93050;Q93050-1	.;.;.;VPP1_HUMAN;.	G	794;794;788;795;745;440	ENSP00000342951:E794G;ENSP00000444676:E794G;ENSP00000377415:E788G;ENSP00000264649:E795G;ENSP00000443991:E745G;ENSP00000446377:E440G	ENSP00000264649:E795G	E	+	2	0	ATP6V0A1	37919965	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.139000	0.94554	1.936000	0.56123	0.459000	0.35465	GAG		0.622	ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450364.1	NM_001130020		G	40666439	A	G	40666439	3	3	695	1	0	0	0	0	1	0	0	0	1168	304	11	3	2480	3	ATP6V0A1	17	40666439	Missense_Mutation	SNP	A	TCGA-KL-8326-01A-11D-2310-10	30402937	40666439	40528771	60	38549											
CARD14	79092	broad.mit.edu	37	17	78178060	78178060	+	Missense_Mutation	SNP	T	T	A			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr17:78178060T>A	ENST00000573882.1	+	19	2854	c.2318T>A	c.(2317-2319)aTc>aAc	p.I773N	RP11-334C17.5_ENST00000572730.1_RNA|RP11-334C17.5_ENST00000570309.1_RNA|RP11-334C17.5_ENST00000573935.1_RNA|RP11-334C17.5_ENST00000573346.1_RNA|CARD14_ENST00000344227.2_Missense_Mutation_p.I773N|RP11-334C17.5_ENST00000576824.1_RNA			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	773					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)			CTGGTCCGCATCGTCAGTATG	0.572																																																0													54	45	48					17																	78178060		2202	4299	6501	SO:0001583	missense	79092			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.2318T>A	17.37:g.78178060T>A	ENSP00000458715:p.Ile773Asn		B8QQJ3|Q9BVB5	Missense_Mutation	SNP	ENST00000573882.1	37	CCDS11768.1	.	.	.	.	.	.	.	.	.	.	T	18.74	3.689183	0.68271	.	.	ENSG00000141527	ENST00000344227	T	0.05580	3.42	4.08	4.08	0.47627	.	0.520215	0.19019	N	0.124877	T	0.18467	0.0443	M	0.67953	2.075	0.80722	D	1	D	0.69078	0.997	D	0.63597	0.916	T	0.02015	-1.1229	10	0.27082	T	0.32	-21.5192	12.0436	0.53466	0.0:0.0:0.0:1.0	.	773	Q9BXL6	CAR14_HUMAN	N	773	ENSP00000344549:I773N	ENSP00000344549:I773N	I	+	2	0	CARD14	75792655	0.968000	0.33430	0.999000	0.59377	0.978000	0.69477	4.578000	0.60929	1.490000	0.48466	0.383000	0.25322	ATC		0.572	CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437507.1			A	78178060	T	A	78178060	3	1	695	1	0	0	0	0	1	0	0	0	2648	1435	50	5	2545	5	CARD14	17	78178060	Missense_Mutation	SNP	T	TCGA-KL-8326-01A-11D-2310-10	37511621	78178060	3017150	61	38550											
ZNF676	163223	mdanderson.org	37	19	22363589	22363589	+	Silent	SNP	C	C	T	rs80146743	byFrequency	TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr19:22363589C>T	ENST00000397121.2	-	3	1247	c.930G>A	c.(928-930)aaG>aaA	p.K310K		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	310					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)				ATTCTTCACACTTGTAGGGTT	0.443																																																0													66	69	68					19																	22363589		2091	4235	6326	SO:0001819	synonymous_variant	163223			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.930G>A	19.37:g.22363589C>T			A8MVX5	Silent	SNP	ENST00000397121.2	37	CCDS42539.1																																																																																				0.443	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		T	22363589	C	T	22363589	2	4	695	1	0	0	0	0	0	0	0	1	18088	564	20	2		2	ZNF676	19	22363589	Silent	SNP	C	TCGA-KL-8326-01A-11D-2310-10		22363589	36765394	62	38551											
FCGBP	8857	broad.mit.edu	37	19	40396331	40396332	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr19:40396331_40396332insC	ENST00000221347.6	-	15	7072_7073	c.7065_7066insG	c.(7063-7068)ccgagcfs	p.S2356fs		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2356	Cys-rich.|TIL 5.					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)			GCCGACAGGCTCGGGCAGCTCC	0.649																																																0																																										SO:0001589	frameshift_variant	8857			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.7066dupG	19.37:g.40396332_40396332dupC	ENSP00000221347:p.Ser2356fs		O95784	Frame_Shift_Ins	INS	ENST00000221347.6	37	CCDS12546.1																																																																																				0.649	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		C	40396332	-	C	40396331	7	5	695	1	0	1	1	0	0	0	0	0	5780	1551	54	0	9239	0	FCGBP	19	40396331	Frame_Shift_Ins	INS	-	TCGA-KL-8326-01A-11D-2310-10	18032742	40396331	18732652	63	38552											
C19orf41	126123	ucsc.edu	37	19	50666389	50666389	+	Silent	SNP	G	G	A	rs61742305	byFrequency	TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr19:50666389G>A	ENST00000293405.3	-	1	63	c.63C>T	c.(61-63)tgC>tgT	p.C21C		NM_152358.2	NP_689571.2	Q6UXV1	IZUM2_HUMAN	IZUMO family member 2	21						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						CGCACTGCAGGCAGCCCCAGC	0.706													G|||	587	0.117212	0.0159	0.1643	5008	,	,		12810	0.0625		0.2485	False		,,,				2504	0.1421															0								G		174,3710		4,166,1772	10	14	13		63	2.4	1	19	dbSNP_129	13	1851,6415		214,1423,2496	no	coding-synonymous	IZUMO2	NM_152358.2		218,1589,4268	AA,AG,GG		22.3929,4.4799,16.6667		21/222	50666389	2025,10125	1942	4133	6075	SO:0001819	synonymous_variant	126123			AY358196	CCDS12792.2	19q13.33	2014-02-17	2010-07-29	2010-07-29	ENSG00000161652	ENSG00000161652		"-"	28518	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 41"	C19orf41		19658160, 22957301	Standard	XM_006723007		Approved	MGC33947, SCRL	uc002prp.1	Q6UXV1	OTTHUMG00000074063	ENST00000293405.3:c.63C>T	19.37:g.50666389G>A			Q5GRG3|Q5GRG4|Q6ZNM5|Q8NHR8	Silent	SNP	ENST00000293405.3	37	CCDS12792.2																																																																																				0.706	IZUMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157232.1	NM_152358		A	50666389	G	A	50666389	2	1	695	1	0	0	0	0	0	0	0	1	1926	1195	42	2		2	C19orf41	19	50666389	Silent	SNP	G	TCGA-KL-8326-01A-11D-2310-10	10270058	50666389	8462594	64	38553											
JAG1	182	hgsc.bcm.edu;mdanderson.org	37	20	10626014	10626014	+	Silent	SNP	G	G	T			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr20:10626014G>T	ENST00000254958.5	-	16	2618	c.2103C>A	c.(2101-2103)acC>acA	p.T701T	JAG1_ENST00000488480.1_RNA|JAG1_ENST00000423891.2_Silent_p.T542T	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	701	EGF-like 12; 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						GTGAGTGGCAGGTCTTTCCTT	0.527									Alagille Syndrome																																							0			GRCh37	CD994168	JAG1	D							153	147	149					20																	10626014		2203	4300	6503	SO:0001819	synonymous_variant	182	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	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.2103C>A	20.37:g.10626014G>T			A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Silent	SNP	ENST00000254958.5	37	CCDS13112.1																																																																																				0.527	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214		T	10626014	G	T	10626014	2	4	695	1	0	0	0	0	0	0	0	1	7936	987	35	4		4	JAG1	20	10626014	Silent	SNP	G	TCGA-KL-8326-01A-11D-2310-10		10626014	52399506	65	38554											
KIAA1755	85449	broad.mit.edu;bcgsc.ca	37	20	36869241	36869241	+	Missense_Mutation	SNP	G	G	T			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr20:36869241G>T	ENST00000279024.4	-	3	1563	c.1292C>A	c.(1291-1293)gCa>gAa	p.A431E		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	431										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)				GGCTGCAGCTGCAGGAGAAGC	0.562																																																0													64	65	65					20																	36869241		2203	4300	6503	SO:0001583	missense	85449			AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.1292C>A	20.37:g.36869241G>T	ENSP00000279024:p.Ala431Glu		Q9C0A8	Missense_Mutation	SNP	ENST00000279024.4	37	CCDS33467.1	.	.	.	.	.	.	.	.	.	.	G	0.336	-0.953363	0.02285	.	.	ENSG00000149633	ENST00000279024	T	0.05382	3.45	4.18	-5.42	0.02640	.	1.213520	0.06010	N	0.649274	T	0.03095	0.0091	N	0.22421	0.69	0.09310	N	1	B	0.27498	0.18	B	0.23716	0.048	T	0.44097	-0.9350	10	0.02654	T	1	.	6.1358	0.20233	0.4644:0.3157:0.2199:0.0	.	431	Q5JYT7	K1755_HUMAN	E	431	ENSP00000279024:A431E	ENSP00000279024:A431E	A	-	2	0	KIAA1755	36302655	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.332000	0.07904	-0.796000	0.04456	-0.768000	0.03414	GCA		0.562	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		T	36869241	G	T	36869241	3	4	695	1	0	0	0	0	1	0	0	0	8259	1319	46	4	2358	4	KIAA1755	20	36869241	Missense_Mutation	SNP	G	TCGA-KL-8326-01A-11D-2310-10	26243227	36869241	26156279	66	38555											
SLC35C2	51006	broad.mit.edu	37	20	44984494	44984494	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr20:44984494A>G	ENST00000372227.1	-	5	895	c.355T>C	c.(355-357)Tca>Cca	p.S119P	SLC35C2_ENST00000372230.5_Missense_Mutation_p.S119P|SLC35C2_ENST00000317734.8_Missense_Mutation_p.S119P|SLC35C2_ENST00000243896.2_Missense_Mutation_p.S119P|SLC35C2_ENST00000543605.1_Missense_Mutation_p.S148P|SLC35C2_ENST00000493599.1_5'Flank|SLC35C2_ENST00000372229.1_Intron	NM_001281458.1|NM_001281460.1	NP_001268387.1|NP_001268389.1	Q9NQQ7	S35C2_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C2	119					negative regulation of gene expression (GO:0010629)|positive regulation of Notch signaling pathway (GO:0045747)|protein O-linked fucosylation (GO:0036066)|transport (GO:0006810)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	16		Myeloproliferative disorder(115;0.0122)				AGGACAGCTGAGGATTTGGTC	0.527																																																0													151	141	145					20																	44984494		2203	4300	6503	SO:0001583	missense	51006				CCDS13396.1, CCDS13397.1, CCDS63292.1	20q13.12	2013-07-17	2013-07-17	2003-10-10	ENSG00000080189	ENSG00000080189		"Solute carriers"	17117	protein-coding gene	gene with protein product			"ovarian cancer overexpressed 1", "solute carrier family 35, member C2"	C20orf5, OVCOV1		10810093, 11549316	Standard	NM_173179		Approved	CGI-15, bA394O2.1	uc002xrq.3	Q9NQQ7	OTTHUMG00000033050	ENST00000372227.1:c.355T>C	20.37:g.44984494A>G	ENSP00000361301:p.Ser119Pro		B7Z6V6|E1P5T0|Q53GK3|Q5JW05|Q96CJ8|Q9Y304	Missense_Mutation	SNP	ENST00000372227.1	37	CCDS13396.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.109718	0.77096	.	.	ENSG00000080189	ENST00000317734;ENST00000243896;ENST00000372227;ENST00000372230;ENST00000543605	D;D;D;D;D	0.87103	-2.21;-2.21;-2.21;-2.21;-2.21	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.94198	0.8138	M	0.89840	3.065	0.80722	D	1	D;D;D;D	0.89917	1.0;0.995;0.999;1.0	D;P;D;D	0.79108	0.992;0.763;0.991;0.963	D	0.94860	0.8021	10	0.56958	D	0.05	.	14.3057	0.66384	1.0:0.0:0.0:0.0	.	148;5;119;119	F5H4T9;B7Z6R4;Q9NQQ7-2;Q9NQQ7	.;.;.;S35C2_HUMAN	P	119;119;119;119;148	ENSP00000318960:S119P;ENSP00000243896:S119P;ENSP00000361301:S119P;ENSP00000361304:S119P;ENSP00000439974:S148P	ENSP00000243896:S119P	S	-	1	0	SLC35C2	44417901	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	6.269000	0.72558	2.217000	0.71921	0.533000	0.62120	TCA		0.527	SLC35C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080363.1	NM_015945		G	44984494	A	G	44984494	3	3	695	1	0	0	0	0	1	0	0	0	14586	304	11	3	766	3	SLC35C2	20	44984494	Missense_Mutation	SNP	A	TCGA-KL-8326-01A-11D-2310-10	8115253	44984494	18041026	67	38556											
ELFN2	114794	ucsc.edu	37	22	37769129	37769129	+	Missense_Mutation	SNP	C	C	T	rs61737924		TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr22:37769129C>T	ENST00000402918.2	-	3	3231	c.2446G>A	c.(2446-2448)Gcc>Acc	p.A816T	RP1-63G5.8_ENST00000609322.1_RNA|ELFN2_ENST00000435824.1_5'Flank|RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	816					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)					TTCTGCTGGGCGGAGACCCCC	0.662																																																0													57	52	54					22																	37769129		2203	4300	6503	SO:0001583	missense	114794			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.2446G>A	22.37:g.37769129C>T	ENSP00000385277:p.Ala816Thr		Q96PY3	Missense_Mutation	SNP	ENST00000402918.2	37	CCDS33642.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.913449	0.92178	.	.	ENSG00000166897	ENST00000349653;ENST00000402918	T;T	0.67171	-0.25;-0.25	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.72542	0.3473	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.68621	0.959	T	0.77422	-0.2594	10	0.87932	D	0	-33.9132	17.8461	0.88730	0.0:1.0:0.0:0.0	.	816	Q5R3F8	PPR29_HUMAN	T	816	ENSP00000300147:A816T;ENSP00000385277:A816T	ENSP00000300147:A816T	A	-	1	0	ELFN2	36099075	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.575000	0.82447	2.265000	0.75225	0.561000	0.74099	GCC		0.662	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318900.2	NM_052906		T	37769129	C	T	37769129	3	4	695	1	0	0	0	0	1	0	0	0	5060	768	27	1	20	1	ELFN2	22	37769129	Missense_Mutation	SNP	C	TCGA-KL-8326-01A-11D-2310-10		37769129	13535437	68	38557											
TYMP	1890	broad.mit.edu	37	22	50965605	50965605	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr22:50965605C>T	ENST00000252029.3	-	6	916	c.754G>A	c.(754-756)Gca>Aca	p.A252T	SCO2_ENST00000252785.3_5'Flank|SCO2_ENST00000543927.1_5'Flank|TYMP_ENST00000395678.3_Missense_Mutation_p.A252T|SCO2_ENST00000395693.3_5'Flank|CTA-384D8.36_ENST00000608319.1_RNA|TYMP_ENST00000395680.1_Missense_Mutation_p.A252T|TYMP_ENST00000395681.1_Missense_Mutation_p.A252T|SCO2_ENST00000535425.1_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	252					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)	AGCGTCTTTGCCAGCTCCCGG	0.652																																																0													34	35	34					22																	50965605		2201	4300	6501	SO:0001583	missense	1890			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.754G>A	22.37:g.50965605C>T	ENSP00000252029:p.Ala252Thr		A8MW15|H9KVA0|Q13390|Q8WVB7	Missense_Mutation	SNP	ENST00000252029.3	37	CCDS14096.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.503085	0.85176	.	.	ENSG00000025708	ENST00000395680;ENST00000395681;ENST00000252029;ENST00000395678;ENST00000425169	D;D;D;D;D	0.98617	-5.03;-5.03;-5.03;-5.03;-5.03	4.6	3.56	0.40772	Glycosyl transferase, family 3 (3);	0.126268	0.51477	D	0.000099	D	0.99396	0.9787	H	0.98218	4.175	0.46222	D	0.998934	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.68943	0.961;0.961;0.961	D	0.98541	1.0632	10	0.87932	D	0	-1.5027	12.6632	0.56826	0.0:0.8318:0.1682:0.0	.	252;252;252	B2RBL3;E5KRG5;P19971	.;.;TYPH_HUMAN	T	252;252;252;252;219	ENSP00000379037:A252T;ENSP00000379038:A252T;ENSP00000252029:A252T;ENSP00000379036:A252T;ENSP00000395875:A219T	ENSP00000252029:A252T	A	-	1	0	TYMP	49312471	1.000000	0.71417	0.972000	0.41901	0.695000	0.40330	6.059000	0.71133	1.047000	0.40274	0.561000	0.74099	GCA		0.652	TYMP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317081.1	NM_001953		T	50965605	C	T	50965605	3	4	695	1	0	0	0	0	1	0	0	0	16816	739	26	2	714	2	TYMP	22	50965605	Missense_Mutation	SNP	C	TCGA-KL-8326-01A-11D-2310-10	13196476	50965605	338961	69	38558											
DUSP21	63904	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	X	44703528	44703528	+	Silent	SNP	C	C	T			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chrX:44703528C>T	ENST00000339042.4	+	1	280	c.150C>T	c.(148-150)gcC>gcT	p.A50A		NM_022076.3	NP_071359.3	Q9H596	DUS21_HUMAN	dual specificity phosphatase 21	50	Sufficient for mitochondrial localization. {ECO:0000250}.|Tyrosine-protein phosphatase.				peptidyl-tyrosine dephosphorylation (GO:0035335)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|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)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|skin(3)	19						GCATCACCGCCATTGTCAATG	0.512																																																0													169	131	144					X																	44703528		2203	4300	6503	SO:0001819	synonymous_variant	63904			AF143321	CCDS14264.1	Xp11.4-p11.23	2011-06-09			ENSG00000189037	ENSG00000189037		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	20476	protein-coding gene	gene with protein product		300678				12408986	Standard	NM_022076		Approved		uc004dgd.3	Q9H596	OTTHUMG00000021401	ENST00000339042.4:c.150C>T	X.37:g.44703528C>T			Q0VDA6|Q6IAJ6|Q6YDQ8	Silent	SNP	ENST00000339042.4	37	CCDS14264.1																																																																																				0.512	DUSP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056323.1	NM_022076		T	44703528	C	T	44703528	2	4	695	1	0	0	0	0	0	0	0	1	4822	581	21	2		2	DUSP21	23	44703528	Silent	SNP	C	TCGA-KL-8326-01A-11D-2310-10		44703528	110567032	70	38559											
PJA1	64219	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	X	68382228	68382228	+	Missense_Mutation	SNP	T	T	A			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chrX:68382228T>A	ENST00000361478.1	-	2	1231	c.854A>T	c.(853-855)cAc>cTc	p.H285L	PJA1_ENST00000477231.1_5'UTR|PJA1_ENST00000374571.4_Missense_Mutation_p.H230L|PJA1_ENST00000374583.1_Missense_Mutation_p.H285L|PJA1_ENST00000374584.3_Intron	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	285					protein catabolic process (GO:0030163)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						GGAAGTACTGTGTGGCATATC	0.502																																																0													84	71	75					X																	68382228		2203	4300	6503	SO:0001583	missense	64219			AK021892	CCDS14392.1, CCDS14393.1, CCDS35316.1	Xq13.1	2013-01-09	2012-02-23		ENSG00000181191	ENSG00000181191		"RING-type (C3HC4) zinc fingers"	16648	protein-coding gene	gene with protein product		300420	"praja 1", "praja ring finger 1"			12036302	Standard	NM_001032396		Approved	FLJ11830, RNF70	uc004dxh.3	Q8NG27	OTTHUMG00000021753	ENST00000361478.1:c.854A>T	X.37:g.68382228T>A	ENSP00000355014:p.His285Leu		A2A322|Q5JUT8|Q5JUT9|Q8NG28|Q9HAC1	Missense_Mutation	SNP	ENST00000361478.1	37	CCDS14393.1	.	.	.	.	.	.	.	.	.	.	t	8.610	0.888911	0.17540	.	.	ENSG00000181191	ENST00000396010;ENST00000374583;ENST00000361478;ENST00000374571	T;T;T	0.05258	3.47;3.47;3.47	3.07	1.87	0.25490	.	0.649262	0.13314	U	0.397237	T	0.08403	0.0209	L	0.44542	1.39	0.09310	N	1	D	0.59357	0.985	P	0.49477	0.612	T	0.26018	-1.0115	10	0.66056	D	0.02	-2.1912	4.5018	0.11867	0.0:0.1598:0.0:0.8402	.	285	Q8NG27	PJA1_HUMAN	L	200;285;285;230	ENSP00000363711:H285L;ENSP00000355014:H285L;ENSP00000363699:H230L	ENSP00000355014:H285L	H	-	2	0	PJA1	68298953	0.984000	0.35163	0.168000	0.22838	0.721000	0.41392	1.590000	0.36654	0.433000	0.26313	0.299000	0.19835	CAC		0.502	PJA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057031.2	NM_145119		A	68382228	T	A	68382228	3	1	695	1	0	0	0	0	1	0	0	0	11963	1696	59	5	1081	5	PJA1	23	68382228	Missense_Mutation	SNP	T	TCGA-KL-8326-01A-11D-2310-10	23678700	68382228	86888332	71	38560											
PCDH11X	27328	broad.mit.edu	37	X	91090725	91090725	+	Silent	SNP	G	G	T			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chrX:91090725G>T	ENST00000373094.1	+	1	1067	c.222G>T	c.(220-222)ctG>ctT	p.L74L	PCDH11X_ENST00000373088.1_Silent_p.L74L|PCDH11X_ENST00000298274.8_Silent_p.L74L|PCDH11X_ENST00000361724.1_Silent_p.L74L|PCDH11X_ENST00000406881.1_Silent_p.L74L|PCDH11X_ENST00000373097.1_Silent_p.L74L|PCDH11X_ENST00000395337.2_Silent_p.L74L|PCDH11X_ENST00000504220.2_Silent_p.L74L|PCDH11X_ENST00000361655.2_Silent_p.L74L	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	74	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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						ATGTGCCACTGATTCGAATTG	0.453																																					NSCLC(38;925 1092 2571 38200 45895)											0													190	159	169					X																	91090725		2203	4300	6503	SO:0001819	synonymous_variant	27328			AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"Cadherins / Protocadherins : Non-clustered"	8656	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 119"	300246	"protocadherin 11"	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.222G>T	X.37:g.91090725G>T			A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Silent	SNP	ENST00000373094.1	37	CCDS14461.1																																																																																				0.453	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		T	91090725	G	T	91090725	2	4	695	1	0	0	0	0	0	0	0	1	11510	1277	45	4		4	PCDH11X	23	91090725	Silent	SNP	G	TCGA-KL-8326-01A-11D-2310-10	22708497	91090725	64179835	72	38561											
CXorf66	347487	hgsc.bcm.edu;mdanderson.org	37	X	139038874	139038874	+	Silent	SNP	G	G	A			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chrX:139038874G>A	ENST00000370540.1	-	3	290	c.267C>T	c.(265-267)gcC>gcT	p.A89A		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	89						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						TAGATGACTTGGCTGCTATGC	0.378																																																0													142	124	130					X																	139038874		2203	4300	6503	SO:0001819	synonymous_variant	347487				CCDS35411.1	Xq27.1	2014-05-30			ENSG00000203933	ENSG00000203933			33743	protein-coding gene	gene with protein product	"secreted glycoprotein, X-linked"					24709545	Standard	NM_001013403		Approved	RP11-35F15.2, SGPX	uc004fbb.3	Q5JRM2	OTTHUMG00000022539	ENST00000370540.1:c.267C>T	X.37:g.139038874G>A				Silent	SNP	ENST00000370540.1	37	CCDS35411.1																																																																																				0.378	CXorf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058572.1	NM_001013403		A	139038874	G	A	139038874	2	1	695	1	0	0	0	0	0	0	0	1	4120	1335	47	2		2	CXorf66	23	139038874	Silent	SNP	G	TCGA-KL-8326-01A-11D-2310-10	47948149	139038874	16231686	73	38562											
HOOK1	51361	broad.mit.edu	37	1	60314061	60314061	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr1:60314061A>G	ENST00000371208.3	+	11	1261	c.1004A>G	c.(1003-1005)gAc>gGc	p.D335G	HOOK1_ENST00000395561.2_Missense_Mutation_p.D293G|HOOK1_ENST00000465876.1_3'UTR	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	335	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)					GATCTGAATGACCTTCGCAAG	0.363																																																0													89	85	87					1																	60314061		2203	4300	6503	SO:0001583	missense	51361			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.1004A>G	1.37:g.60314061A>G	ENSP00000360252:p.Asp335Gly		A8K8E9|A8MU44|B4DX15|O60561|Q5TG44	Missense_Mutation	SNP	ENST00000371208.3	37	CCDS612.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.719856	0.89205	.	.	ENSG00000134709	ENST00000371208;ENST00000395561	T;T	0.27557	1.66;1.66	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.55878	0.1948	M	0.77486	2.375	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.53019	-0.8497	10	0.22109	T	0.4	.	16.3432	0.83101	1.0:0.0:0.0:0.0	.	335	Q9UJC3	HOOK1_HUMAN	G	335;293	ENSP00000360252:D335G;ENSP00000378928:D293G	ENSP00000360252:D335G	D	+	2	0	HOOK1	60086649	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.730000	0.91510	2.263000	0.75096	0.377000	0.23210	GAC		0.363	HOOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024934.1	NM_015888		G	60314061	A	G	60314061	3	3	696	1	0	0	0	0	1	0	0	0	7284	275	10	3	1046	3	HOOK1	1	60314061	Missense_Mutation	SNP	A	TCGA-KL-8327-01A-11D-2310-10		60314061	188936560	1	38563											
FAM189B	10712	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	155221684	155221684	+	Missense_Mutation	SNP	G	G	A	rs534103219		TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr1:155221684G>A	ENST00000361361.2	-	6	1143	c.634C>T	c.(634-636)Cgg>Tgg	p.R212W	FAM189B_ENST00000472550.1_5'UTR|FAM189B_ENST00000368368.3_Missense_Mutation_p.R194W|FAM189B_ENST00000350210.2_Missense_Mutation_p.R116W	NM_006589.2	NP_006580.2	P81408	F189B_HUMAN	family with sequence similarity 189, member B	212						integral component of membrane (GO:0016021)	WW domain binding (GO:0050699)			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						GAGACTGACCGCTCAGGGGCC	0.617													G|||	1	0.000199681	0.0008	0.0	5008	,	,		11922	0.0		0.0	False		,,,				2504	0.0															0																																										SO:0001583	missense	10712			AF070550	CCDS1103.1, CCDS1104.1, CCDS58035.1	1q21	2009-07-09	2009-07-09	2009-07-09	ENSG00000160767	ENSG00000160767			1233	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 2"	C1orf2		9331372	Standard	NM_006589		Approved	cote1	uc001fjm.3	P81408	OTTHUMG00000035844	ENST00000361361.2:c.634C>T	1.37:g.155221684G>A	ENSP00000354958:p.Arg212Trp		B1AVS5|Q8IXL3|Q9BR66	Missense_Mutation	SNP	ENST00000361361.2	37	CCDS1103.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.551615	0.86127	.	.	ENSG00000160767	ENST00000350210;ENST00000333966;ENST00000368368;ENST00000361361;ENST00000491082	T;T;T;T	0.03689	3.84;3.88;3.84;3.84	4.32	4.32	0.51571	.	0.229602	0.39146	N	0.001442	T	0.03827	0.0108	L	0.45352	1.415	0.40489	D	0.980527	D;D;D	0.64830	0.991;0.994;0.978	P;P;P	0.51016	0.549;0.656;0.451	T	0.40646	-0.9552	10	0.87932	D	0	.	12.5139	0.56021	0.0:0.0:1.0:0.0	.	194;116;212	B1AVS5;P81408-2;P81408	.;.;F189B_HUMAN	W	116;116;194;212;116	ENSP00000307128:R116W;ENSP00000357352:R194W;ENSP00000354958:R212W;ENSP00000427011:R116W	ENSP00000333944:R116W	R	-	1	2	FAM189B	153488308	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	7.671000	0.83941	2.403000	0.81681	0.561000	0.74099	CGG		0.617	FAM189B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087224.1	NM_006589		A	155221684	G	A	155221684	3	1	696	1	0	0	0	0	1	0	0	0	5519	1086	38	1	1400	1	FAM189B	1	155221684	Missense_Mutation	SNP	G	TCGA-KL-8327-01A-11D-2310-10	94907623	155221684	94028937	2	38564											
ASTN1	460	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	176915167	176915167	+	Missense_Mutation	SNP	C	C	T	rs202163703		TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr1:176915167C>T	ENST00000367654.3	-	13	2379	c.2168G>A	c.(2167-2169)aGc>aAc	p.S723N	ASTN1_ENST00000367657.3_Missense_Mutation_p.S715N|ASTN1_ENST00000424564.2_Missense_Mutation_p.S715N|ASTN1_ENST00000361833.2_Missense_Mutation_p.S715N|ASTN1_ENST00000281881.3_5'UTR	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	723					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						AAGCTCCCTGCTTTCCCCACA	0.537																																																0													114	106	109					1																	176915167		2203	4300	6503	SO:0001583	missense	460			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"astrotactin"	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.2168G>A	1.37:g.176915167C>T	ENSP00000356626:p.Ser723Asn		A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37		.	.	.	.	.	.	.	.	.	.	C	12.15	1.852937	0.32699	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.15256	2.44;2.86;2.86;2.44	5.25	4.34	0.51931	.	0.308242	0.40385	N	0.001120	T	0.06645	0.0170	N	0.03608	-0.345	0.26601	N	0.97302	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.21793	-1.0235	10	0.34782	T	0.22	-11.2963	5.3714	0.16142	0.1496:0.629:0.1443:0.0771	.	723;715;715	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	N	715;715;723;715;715	ENSP00000356629:S715N;ENSP00000354536:S715N;ENSP00000356626:S723N;ENSP00000395041:S715N	ENSP00000354536:S715N	S	-	2	0	ASTN1	175181790	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.890000	0.39728	1.212000	0.43366	0.655000	0.94253	AGC		0.537	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		T	176915167	C	T	176915167	3	4	696	1	0	0	0	0	1	0	0	0	1064	797	28	2	1788	2	ASTN1	1	176915167	Missense_Mutation	SNP	C	TCGA-KL-8327-01A-11D-2310-10	21693483	176915167	72335454	3	38565											
LMOD1	25802	broad.mit.edu	37	1	201868999	201868999	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr1:201868999A>G	ENST00000367288.4	-	2	1388	c.1142T>C	c.(1141-1143)aTc>aCc	p.I381T	RP11-307B6.3_ENST00000458139.1_RNA|RP11-307B6.3_ENST00000414927.1_RNA	NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	381					muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CTTGAGCATGATGGCAATGGC	0.567																																																0													119	121	120					1																	201868999		2183	4265	6448	SO:0001583	missense	25802			X54162	CCDS53457.1	1q32.1	2008-05-22			ENSG00000163431	ENSG00000163431			6647	protein-coding gene	gene with protein product		602715					Standard	NM_012134		Approved	64kD, D1, 1D	uc021phl.1	P29536	OTTHUMG00000035802	ENST00000367288.4:c.1142T>C	1.37:g.201868999A>G	ENSP00000356257:p.Ile381Thr		B1APV6|C4AMB1|Q68EN2	Missense_Mutation	SNP	ENST00000367288.4	37	CCDS53457.1	.	.	.	.	.	.	.	.	.	.	A	14.47	2.545378	0.45280	.	.	ENSG00000163431	ENST00000367288;ENST00000400965;ENST00000412469	D	0.91237	-2.81	4.47	4.47	0.54385	.	0.000000	0.40818	N	0.001006	T	0.79730	0.4496	L	0.29908	0.895	0.37645	D	0.922186	P;P	0.39094	0.47;0.659	B;B	0.32211	0.105;0.142	T	0.77024	-0.2741	10	0.15499	T	0.54	-28.3589	6.7159	0.23302	0.8923:0.0:0.1077:0.0	.	330;381	B4E3S9;P29536	.;LMOD1_HUMAN	T	381;381;330	ENSP00000356257:I381T	ENSP00000356257:I381T	I	-	2	0	LMOD1	200135622	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.114000	0.41911	1.626000	0.50381	0.491000	0.48974	ATC		0.567	LMOD1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087085.2			G	201868999	A	G	201868999	3	3	696	1	0	0	0	0	1	0	0	0	8858	333	12	3	668	3	LMOD1	1	201868999	Missense_Mutation	SNP	A	TCGA-KL-8327-01A-11D-2310-10	24953832	201868999	47381622	4	38566											
EXOC8	149371	broad.mit.edu;mdanderson.org	37	1	231471905	231471905	+	Silent	SNP	G	G	A			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr1:231471905G>A	ENST00000360394.2	-	1	1673	c.1587C>T	c.(1585-1587)tgC>tgT	p.C529C	EXOC8_ENST00000366645.1_Silent_p.C525C|SPRTN_ENST00000295050.7_5'Flank|SPRTN_ENST00000391858.4_5'Flank|SPRTN_ENST00000008440.9_5'Flank	NM_175876.3	NP_787072.2	Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	529					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)				CCAGTTGCTGGCAATGCTCCT	0.483																																																0													123	106	112					1																	231471905		2203	4300	6503	SO:0001819	synonymous_variant	149371			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.1587C>T	1.37:g.231471905G>A			B3KU33|Q5TE82	Silent	SNP	ENST00000360394.2	37	CCDS1593.1																																																																																				0.483	EXOC8-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_175876		A	231471905	G	A	231471905	2	1	696	1	0	0	0	0	0	0	0	1	5313	1195	42	2		2	EXOC8	1	231471905	Silent	SNP	G	TCGA-KL-8327-01A-11D-2310-10	29602906	231471905	17778716	5	38567											
SLC3A1	6519	ucsc.edu	37	2	44528268	44528268	+	Splice_Site	SNP	T	T	G	rs556841667|rs61179824	byFrequency	TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr2:44528268T>G	ENST00000260649.6	+	6	1212		c.e6+2		SLC3A1_ENST00000409387.1_Splice_Site|SLC3A1_ENST00000409741.1_Splice_Site|SLC3A1_ENST00000410056.3_Missense_Mutation_p.L380V|SLC3A1_ENST00000409229.3_Splice_Site|SLC3A1_ENST00000409740.3_5'Flank|SLC3A1_ENST00000409294.1_Intron|SLC3A1_ENST00000409380.1_Splice_Site	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1						amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|basic amino acid transport (GO:0015802)|carbohydrate metabolic process (GO:0005975)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|vacuolar membrane (GO:0005774)	amino acid transmembrane transporter activity (GO:0015171)|basic amino acid transmembrane transporter activity (GO:0015174)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|L-cystine transmembrane transporter activity (GO:0015184)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	CAGATACAGGTTGACCACGGC	0.507																																																0			GRCh37	CS013629	SLC3A1	S	rs146125507						78	75	76					2																	44528268		2170	4288	6458	SO:0001630	splice_region_variant	6519				CCDS1819.1	2p16.3	2013-07-19	2013-07-19		ENSG00000138079	ENSG00000138079		"Solute carriers"	11025	protein-coding gene	gene with protein product		104614	"solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1"			8486766, 9186880	Standard	NM_000341		Approved	CSNU1, D2H, RBAT, ATR1, NBAT	uc002ruc.4	Q07837	OTTHUMG00000128759	ENST00000260649.6:c.1136+2T>G	2.37:g.44528268T>G			A8K0S1|O00658|Q15295|Q4J6B4|Q4J6B5|Q4J6B6|Q4J6B7|Q4J6B8|Q4J6B9|Q52M92|Q52M94	Splice_Site	SNP	ENST00000260649.6	37	CCDS1819.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	1.259|1.259	-0.616384|-0.616384	0.03663|0.03663	.|.	.|.	ENSG00000138079|ENSG00000138079	ENST00000260649;ENST00000409387;ENST00000540334;ENST00000409741;ENST00000409229;ENST00000541289;ENST00000409380|ENST00000410056	.|D	.|0.99176	.|-5.52	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|D	.|0.96204	.|0.8762	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|B	.|0.14438	.|0.01	.|B	.|0.21151	.|0.033	.|D	.|0.90530	.|0.4495	.|5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|380	.|Q4J6B8	.|.	.|V	-1|380	.|ENSP00000387337:L380V	.|.	.|L	+|+	.|1	.|2	SLC3A1|SLC3A1	44381772|44381772	0.999000|0.999000	0.42202|0.42202	0.922000|0.922000	0.36590|0.36590	0.142000|0.142000	0.21351|0.21351	0.000000|0.000000	0.12993|0.12993	0.000000|0.000000	0.14550|0.14550	0.000000|0.000000	0.15137|0.15137	.|TTG		0.507	SLC3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250676.1	NM_000341	Intron	G	44528268	T	G	44528268	5	3	696	1	0	0	0	0	0	0	1	0	14632	1739	60	5	1160	5	SLC3A1	2	44528268	Splice_Site	SNP	T	TCGA-KL-8327-01A-11D-2310-10		44528268	198671105	6	38568											
POTEF	728378	mdanderson.org	37	2	130833115	130833115	+	Missense_Mutation	SNP	T	T	A			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr2:130833115T>A	ENST00000409914.2	-	17	2329	c.1930A>T	c.(1930-1932)Atc>Ttc	p.I644F	POTEF_ENST00000361163.4_3'UTR|POTEF_ENST00000357462.5_Missense_Mutation_p.I644F|POTEF_ENST00000360967.5_3'UTR	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	644					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TCATGCAAGATGTCTTTTTCT	0.338																																																0													30	32	32					2																	130833115		1961	4180	6141	SO:0001583	missense	728378			EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33905	protein-coding gene	gene with protein product			"ANKRD26-like family C, member 1B"	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.1930A>T	2.37:g.130833115T>A	ENSP00000386786:p.Ile644Phe		A6NC34	Missense_Mutation	SNP	ENST00000409914.2	37	CCDS46409.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.630147	0.00115	.	.	ENSG00000196604	ENST00000357462;ENST00000409914	T;T	0.76709	-1.04;-1.04	0.993	0.0565	0.14319	.	.	.	.	.	T	0.51924	0.1703	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.01281	0.0	T	0.30238	-0.9985	9	0.32370	T	0.25	.	2.5633	0.04777	0.1876:0.0:0.3253:0.487	.	644	A5A3E0	POTEF_HUMAN	F	644	ENSP00000350052:I644F;ENSP00000386786:I644F	ENSP00000350052:I644F	I	-	1	0	POTEF	130549585	0.002000	0.14202	0.001000	0.08648	0.000000	0.00434	0.017000	0.13399	-0.445000	0.07159	-3.433000	0.00037	ATC		0.338	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		A	130833115	T	A	130833115	3	1	696	1	0	0	0	0	1	0	0	0	12267	1464	51	5	1301	5	POTEF	2	130833115	Missense_Mutation	SNP	T	TCGA-KL-8327-01A-11D-2310-10	86304847	130833115	112366258	7	38569											
DNAH1	25981	bcgsc.ca	37	3	52387428	52387428	+	Missense_Mutation	SNP	C	C	T	rs540247484		TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr3:52387428C>T	ENST00000420323.2	+	20	3520	c.3259C>T	c.(3259-3261)Cgc>Tgc	p.R1087C		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1087	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)		CATCCGGGCCCGCATCGAGGA	0.617													C|||	1	0.000199681	0.0	0.0	5008	,	,		21226	0.0		0.001	False		,,,				2504	0.0															0													61	67	65					3																	52387428		2075	4190	6265	SO:0001583	missense	25981			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.3259C>T	3.37:g.52387428C>T	ENSP00000401514:p.Arg1087Cys		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.233992	0.79688	.	.	ENSG00000114841	ENST00000420323	T	0.61742	0.08	5.53	3.54	0.40534	.	0.124980	0.31936	N	0.006825	T	0.72455	0.3462	M	0.78285	2.405	0.46096	D	0.998864	D;D	0.69078	0.995;0.997	P;P	0.61658	0.892;0.827	T	0.77305	-0.2637	10	0.72032	D	0.01	.	14.6023	0.68450	0.2298:0.7702:0.0:0.0	.	1087;1087	C9JXH6;Q9P2D7-3	.;.	C	1087	ENSP00000401514:R1087C	ENSP00000401514:R1087C	R	+	1	0	DNAH1	52362468	0.909000	0.30893	0.999000	0.59377	0.995000	0.86356	1.956000	0.40382	2.597000	0.87782	0.655000	0.94253	CGC		0.617	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		T	52387428	C	T	52387428	3	4	696	1	0	0	0	0	1	0	0	0	4599	652	23	1	3333	1	DNAH1	3	52387428	Missense_Mutation	SNP	C	TCGA-KL-8327-01A-11D-2310-10		52387428	145635002	8	38570											
CORIN	10699	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	4	47667069	47667069	+	Silent	SNP	G	G	A	rs61760489		TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr4:47667069G>A	ENST00000273857.4	-	11	1568	c.1569C>T	c.(1567-1569)ggC>ggT	p.G523G	CORIN_ENST00000505909.1_Silent_p.G486G|CORIN_ENST00000504584.1_Silent_p.G486G|CORIN_ENST00000502252.1_Silent_p.G456G|CORIN_ENST00000508498.1_Silent_p.G384G	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	523	FZ 2. {ECO:0000255|PROSITE- ProRule:PRU00090}.				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						GGATATGCTCGCCTGTATTCA	0.423																																																0								G		0,4406		0,0,2203	81	82	82		1569	1.5	0.1	4	dbSNP_129	82	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	CORIN	NM_006587.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		523/1043	47667069	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	10699			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.1569C>T	4.37:g.47667069G>A			B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Silent	SNP	ENST00000273857.4	37	CCDS3477.1																																																																																				0.423	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2			A	47667069	G	A	47667069	2	1	696	1	0	0	0	0	0	0	0	1	3754	1074	38	1		1	CORIN	4	47667069	Silent	SNP	G	TCGA-KL-8327-01A-11D-2310-10		47667069	143487207	9	38571											
DSPP	1834	bcgsc.ca	37	4	88536234	88536239	+	In_Frame_Del	DEL	AGTGAT	AGTGAT	-	rs555978267	byFrequency	TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	AGTGAT	AGTGAT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr4:88536234_88536239delAGTGAT	ENST00000282478.7	+	4	2453_2458	c.2420_2425delAGTGAT	c.(2419-2427)aagtgatgc>agc	p.807_809K*C>S	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_In_Frame_Del_p.807_809K*C>S			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	807	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		agcaacagcagtgatagcagtgatag	0.49																																																0																																										SO:0001651	inframe_deletion	1834			AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.2420_2425delAGTGAT	4.37:g.88536234_88536239delAGTGAT	ENSP00000282478:p.Lys807_Cys809delinsSer		A8MUI0|O95815	In_Frame_Del	DEL	ENST00000282478.7	37	CCDS43248.1																																																																																				0.49	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		-	88536239	AGTGAT	-	88536234	7	5	696	1	0	1	0	1	0	0	0	0	4784	1029	36	0	2434	0	DSPP	4	88536234	In_Frame_Del	DEL	AGTGAT	TCGA-KL-8327-01A-11D-2310-10	40869165	88536234	102618042	10	38572											
PCDHB10	56126	bcgsc.ca	37	5	140573754	140573754	+	Missense_Mutation	SNP	A	A	C	rs702386		TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr5:140573754A>C	ENST00000239446.4	+	1	1813	c.1629A>C	c.(1627-1629)agA>agC	p.R543S		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	543	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.			R -> S (in Ref. 2; AAK51616). {ECO:0000305}.	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)			CGCTGAGCAGAGAGGCGCTGG	0.701																																																0													37	53	47					5																	140573754		2191	4291	6482	SO:0001583	missense	56126			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.1629A>C	5.37:g.140573754A>C	ENSP00000239446:p.Arg543Ser		Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	CCDS4252.1	1085	0.4967948717948718	272	0.5528455284552846	171	0.4723756906077348	330	0.5769230769230769	312	0.41160949868073876	a	3.278	-0.147626	0.06627	.	.	ENSG00000120324	ENST00000239446	T	0.46063	0.88	3.53	3.53	0.40419	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.00012	0.0000	N	0.00005	-3.295	0.50467	P	1.2299999999998423E-4	B	0.02656	0.0	B	0.01281	0.0	T	0.47636	-0.9102	8	0.02654	T	1	.	7.2252	0.26012	0.1715:0.7353:0.0:0.0932	rs702386;rs17844583	543	Q9UN67	PCDBA_HUMAN	S	543	ENSP00000239446:R543S	ENSP00000239446:R543S	R	+	3	2	PCDHB10	140553938	0.001000	0.12720	1.000000	0.80357	0.970000	0.65996	0.307000	0.19296	0.852000	0.35287	-0.233000	0.12211	AGA		0.701	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		C	140573754	A	C	140573754	3	2	696	1	0	0	0	0	1	0	0	0	11537	301	11	5	1631	5	PCDHB10	5	140573754	Missense_Mutation	SNP	A	TCGA-KL-8327-01A-11D-2310-10		140573754	40341506	11	38573											
CSF1R	1436	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	5	149460495	149460495	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr5:149460495C>T	ENST00000286301.3	-	3	433	c.142G>A	c.(142-144)Gtg>Atg	p.V48M	CSF1R_ENST00000543093.1_Missense_Mutation_p.V48M	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	48	Ig-like C2-type 1.				cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	TCCCATTCCACGCTGCCATTG	0.597																																																0													126	88	101					5																	149460495		2203	4300	6503	SO:0001583	missense	1436			U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	2433	protein-coding gene	gene with protein product		164770	"McDonough feline sarcoma viral (v-fms) oncogene homolog"	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.142G>A	5.37:g.149460495C>T	ENSP00000286301:p.Val48Met		B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Missense_Mutation	SNP	ENST00000286301.3	37	CCDS4302.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.594279	0.46214	.	.	ENSG00000182578	ENST00000286301;ENST00000543093	T;T	0.35236	1.32;1.32	5.76	4.88	0.63580	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.49305	D	0.000146	T	0.60612	0.2282	M	0.88704	2.975	0.49051	D	0.999749	D;D;D	0.89917	1.0;1.0;0.998	P;P;B	0.60609	0.876;0.877;0.435	T	0.68138	-0.5488	10	0.87932	D	0	.	11.0419	0.47835	0.0:0.9135:0.0:0.0865	.	48;48;48	B4DG86;B5A955;P07333	.;.;CSF1R_HUMAN	M	48	ENSP00000286301:V48M;ENSP00000445282:V48M	ENSP00000286301:V48M	V	-	1	0	CSF1R	149440688	0.882000	0.30256	0.871000	0.34182	0.140000	0.21249	1.419000	0.34793	1.432000	0.47375	0.655000	0.94253	GTG		0.597	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252329.2	NM_005211		T	149460495	C	T	149460495	3	4	696	1	0	0	0	0	1	0	0	0	3934	536	19	1	2856	1	CSF1R	5	149460495	Missense_Mutation	SNP	C	TCGA-KL-8327-01A-11D-2310-10	8886741	149460495	31454765	12	38574											
BEND6	221336	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	6	56846621	56846621	+	Missense_Mutation	SNP	G	G	A	rs199964177	byFrequency	TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr6:56846621G>A	ENST00000370746.3	+	2	282	c.13G>A	c.(13-15)Gtg>Atg	p.V5M	BEND6_ENST00000370748.3_Missense_Mutation_p.V5M|BEND6_ENST00000370745.1_Missense_Mutation_p.V5M|BEND6_ENST00000370750.2_Missense_Mutation_p.V5M	NM_152731.2	NP_689944.2	Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	5					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)		RNA polymerase II transcription corepressor activity (GO:0001106)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						GCAGAAGATCGTGCAGACAGA	0.368													T|||	3	0.000599042	0.0	0.0	5008	,	,		16669	0.0		0.003	False		,,,				2504	0.0															0								T	MET/VAL	1,3705		0,1,1852	142	139	140		13	3.9	1	6		140	5,8171		0,5,4083	yes	missense	BEND6	NM_152731.2	21	0,6,5935	AA,AG,GG		0.0612,0.027,0.0505	benign	5/280	56846621	6,11876	1853	4088	5941	SO:0001583	missense	221336			AK054724	CCDS43476.1	6p12.1	2012-11-22	2008-10-03	2008-10-03	ENSG00000151917	ENSG00000151917		"BEN domain containing"	20871	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 65"	C6orf65			Standard	NM_152731		Approved	FLJ30162, bA203B9.1	uc010kab.3	Q5SZJ8	OTTHUMG00000014914	ENST00000370746.3:c.13G>A	6.37:g.56846621G>A	ENSP00000359782:p.Val5Met		Q4G0W8|Q8N662|Q96NS6	Missense_Mutation	SNP	ENST00000370746.3	37	CCDS43476.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	T	19.58	3.854945	0.71719	2.7E-4	6.12E-4	ENSG00000151917	ENST00000322055;ENST00000370750;ENST00000370748;ENST00000370746;ENST00000370745	.	.	.	5.04	3.87	0.44632	.	0.780519	0.11165	N	0.592652	T	0.14787	0.0357	N	0.08118	0	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.10753	-1.0616	9	0.66056	D	0.02	0.6866	5.0573	0.14539	0.0:0.1493:0.165:0.6857	.	5	Q5SZJ8	BEND6_HUMAN	M	5	.	ENSP00000322773:V5M	V	+	1	0	BEND6	56954580	1.000000	0.71417	0.998000	0.56505	0.957000	0.61999	1.487000	0.35540	0.869000	0.35703	-0.264000	0.10439	GTG		0.368	BEND6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041032.4	NM_152731		A	56846621	G	A	56846621	3	1	696	1	0	0	0	0	1	0	0	0	1402	1145	40	1	15	1	BEND6	6	56846621	Missense_Mutation	SNP	G	TCGA-KL-8327-01A-11D-2310-10		56846621	114268446	13	38575											
NT5DC1	221294	broad.mit.edu	37	6	116560197	116560197	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr6:116560197A>G	ENST00000319550.4	+	11	1245	c.1163A>G	c.(1162-1164)aAt>aGt	p.N388S		NM_152729.2	NP_689942.2	Q5TFE4	NT5D1_HUMAN	5'-nucleotidase domain containing 1	388							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)		GGACTGGAAAATACAGAAGAC	0.363																																					Colon(128;1440 1664 38087 41475 42869)											0													88	94	92					6																	116560197		2203	4300	6503	SO:0001583	missense	221294			BC015138	CCDS5104.1	6q22.31	2008-02-05	2006-01-27	2006-01-27	ENSG00000178425	ENSG00000178425			21556	protein-coding gene	gene with protein product			"5'-nucleotidase, cytosolic II-like 1"	NT5C2L1			Standard	NM_152729		Approved	dJ486I3.1, MGC24302	uc003pwj.3	Q5TFE4	OTTHUMG00000015428	ENST00000319550.4:c.1163A>G	6.37:g.116560197A>G	ENSP00000326858:p.Asn388Ser		B2RND9|B3KR35|Q6XYD5	Missense_Mutation	SNP	ENST00000319550.4	37	CCDS5104.1	.	.	.	.	.	.	.	.	.	.	A	8.876	0.950369	0.18431	.	.	ENSG00000178425	ENST00000319550	T	0.21361	2.01	5.05	2.56	0.30785	HAD-like domain (1);	0.552002	0.21299	N	0.076821	T	0.06371	0.0164	L	0.55103	1.725	0.28488	N	0.914632	B;B;B	0.15473	0.013;0.003;0.003	B;B;B	0.12156	0.007;0.003;0.003	T	0.33727	-0.9857	10	0.30078	T	0.28	-11.7868	5.3704	0.16136	0.6976:0.1474:0.1549:0.0	.	338;388;388	B3KR35;A8K2Z3;Q5TFE4	.;.;NT5D1_HUMAN	S	388	ENSP00000326858:N388S	ENSP00000326858:N388S	N	+	2	0	NT5DC1	116666890	0.985000	0.35326	0.306000	0.25113	0.675000	0.39556	1.437000	0.34991	0.332000	0.23536	0.533000	0.62120	AAT		0.363	NT5DC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041931.3	NM_152729		G	116560197	A	G	116560197	3	3	696	1	0	0	0	0	1	0	0	0	10692	101	4	3	1205	3	NT5DC1	6	116560197	Missense_Mutation	SNP	A	TCGA-KL-8327-01A-11D-2310-10	59713576	116560197	54554870	14	38576											
TNRC18	84629	mdanderson.org	37	7	5352659	5352659	+	Silent	SNP	G	G	T	rs138591330	byFrequency	TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr7:5352659G>T	ENST00000430969.1	-	27	8211	c.7863C>A	c.(7861-7863)tcC>tcA	p.S2621S	TNRC18_ENST00000399537.4_Silent_p.S2621S	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2621	Ser-rich.						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)		aggaggaggaggaggatgagg	0.652													G|||	2190	0.4373	0.5076	0.5274	5008	,	,		5586	0.246		0.508	False		,,,				2504	0.4029															0													5	8	7					7																	5352659		1382	3171	4553	SO:0001819	synonymous_variant	84629			U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"Trinucleotide (CAG) repeat containing"	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.7863C>A	7.37:g.5352659G>T			A8MX41|Q96JH1|Q96K91	Silent	SNP	ENST00000430969.1	37	CCDS47534.1	760	0.34798534798534797	201	0.40853658536585363	151	0.4171270718232044	104	0.18181818181818182	304	0.40105540897097625	N	0.009	-1.858244	0.00558	.	.	ENSG00000182095	ENST00000399544	.	.	.	4.17	-1.59	0.08453	.	0.589271	0.12916	N	0.428578	T	0.00012	0.0000	.	.	.	0.34255	P	0.32071700000000003	.	.	.	.	.	.	T	0.40776	-0.9545	5	0.87932	D	0	.	4.5564	0.12138	0.3329:0.0:0.5125:0.1546	.	.	.	.	H	1134	.	ENSP00000382459:P1134H	P	-	2	0	TNRC18	5319185	1.000000	0.71417	0.029000	0.17559	0.001000	0.01503	0.742000	0.26216	-0.333000	0.08476	-1.713000	0.00713	CCT		0.652	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				T	5352659	G	T	5352659	2	4	696	1	0	0	0	0	0	0	0	1	16344	987	35	4		4	TNRC18	7	5352659	Silent	SNP	G	TCGA-KL-8327-01A-11D-2310-10		5352659	153786004	15	38577											
FAM86B1	85002	mdanderson.org	37	8	12043930	12043930	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr8:12043930G>A	ENST00000448228.2	-	5	620	c.571C>T	c.(571-573)Cag>Tag	p.Q191*	FAM86B1_ENST00000321602.8_Intron|FAM86B1_ENST00000534520.1_Intron|FAM86B1_ENST00000533852.2_Nonsense_Mutation_p.Q225*	NM_001083537.1	NP_001077006.1	Q8N7N1	F86B1_HUMAN	family with sequence similarity 86, member B1	191										kidney(1)|prostate(1)|stomach(1)	3			STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.0965)		CAGTCCAGCTGGGCCACTGTC	0.592																																																0													7	8	8					8																	12043930		1221	2229	3450	SO:0001587	stop_gained	85002			BC007983	CCDS59512.1	8p23.1	2014-02-12	2005-08-19		ENSG00000186523	ENSG00000186523			28268	protein-coding gene	gene with protein product						12477932	Standard	NM_001083537		Approved	MGC16279	uc010lse.3	Q8N7N1	OTTHUMG00000165298	ENST00000448228.2:c.571C>T	8.37:g.12043930G>A	ENSP00000407067:p.Gln191*			Nonsense_Mutation	SNP	ENST00000448228.2	37	CCDS59512.1	.	.	.	.	.	.	.	.	.	.	-	16.62	3.173813	0.57692	.	.	ENSG00000186523	ENST00000431227;ENST00000448228;ENST00000526708	.	.	.	1.17	0.238	0.15480	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	2.6938	0.05128	0.2202:0.3077:0.4722:0.0	.	.	.	.	X	225;191;225	.	ENSP00000444227:Q225X	Q	-	1	0	FAM86B1	12081339	1.000000	0.71417	0.887000	0.34795	0.409000	0.31022	1.640000	0.37186	0.068000	0.16574	0.173000	0.16961	CAG		0.592	FAM86B1-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000383317.1	NM_032916		A	12043930	G	A	12043930	4	1	696	1	0	0	0	0	0	1	0	0	5646	1357	47	2	331	2	FAM86B1	8	12043930	Nonsense_Mutation	SNP	G	TCGA-KL-8327-01A-11D-2310-10		12043930	134320092	16	38578											
SNX31	169166	broad.mit.edu	37	8	101661717	101661717	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr8:101661717A>G	ENST00000311812.2	-	1	176	c.26T>C	c.(25-27)gTg>gCg	p.V9A		NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	9	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				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)			CTGCTGGGACACCGGGATACA	0.692																																																0													11	14	13					8																	101661717		2094	4210	6304	SO:0001583	missense	169166				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.26T>C	8.37:g.101661717A>G	ENSP00000312368:p.Val9Ala		C9J6L9|Q8N0U9	Missense_Mutation	SNP	ENST00000311812.2	37	CCDS6288.1	.	.	.	.	.	.	.	.	.	.	A	18.00	3.526544	0.64860	.	.	ENSG00000174226	ENST00000311812	T	0.34859	1.34	4.5	3.29	0.37713	Phox homologous domain (4);	0.000000	0.53938	D	0.000051	T	0.42765	0.1217	L	0.57536	1.79	0.80722	D	1	D	0.61080	0.989	P	0.54815	0.761	T	0.17776	-1.0358	10	0.24483	T	0.36	-14.316	8.7769	0.34767	0.8085:0.1915:0.0:0.0	.	9	Q8N9S9	SNX31_HUMAN	A	9	ENSP00000312368:V9A	ENSP00000312368:V9A	V	-	2	0	SNX31	101730893	0.985000	0.35326	1.000000	0.80357	0.984000	0.73092	2.194000	0.42668	0.554000	0.29061	0.379000	0.24179	GTG		0.692	SNX31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379910.1	NM_152628		G	101661717	A	G	101661717	3	3	696	1	0	0	0	0	1	0	0	0	14907	159	6	3	1352	3	SNX31	8	101661717	Missense_Mutation	SNP	A	TCGA-KL-8327-01A-11D-2310-10	89617787	101661717	44702305	17	38579											
PPRC1	23082	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	10	103899427	103899427	+	Missense_Mutation	SNP	C	C	A			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr10:103899427C>A	ENST00000278070.2	+	5	1201	c.1162C>A	c.(1162-1164)Cag>Aag	p.Q388K	PPRC1_ENST00000370012.1_5'Flank|PPRC1_ENST00000413464.2_Missense_Mutation_p.Q388K	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	388					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)		TTCTGCCTTGCAGCTGCTTAT	0.562																																																0													124	132	130					10																	103899427		2203	4300	6503	SO:0001583	missense	23082			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.1162C>A	10.37:g.103899427C>A	ENSP00000278070:p.Gln388Lys		Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	C	9.753	1.168029	0.21621	.	.	ENSG00000148840	ENST00000278070;ENST00000413464	T;T	0.28666	1.6;1.6	5.93	4.01	0.46588	.	0.522486	0.19991	N	0.101562	T	0.16171	0.0389	N	0.17082	0.46	0.09310	N	0.999999	B;B;B	0.10296	0.003;0.003;0.002	B;B;B	0.09377	0.002;0.004;0.002	T	0.28618	-1.0038	10	0.09084	T	0.74	.	9.4455	0.38695	0.1607:0.5575:0.2817:0.0	.	388;268;388	E7EVG6;Q5VV67-2;Q5VV67	.;.;PPRC1_HUMAN	K	388	ENSP00000278070:Q388K;ENSP00000399743:Q388K	ENSP00000278070:Q388K	Q	+	1	0	PPRC1	103889417	1.000000	0.71417	1.000000	0.80357	0.660000	0.38997	0.680000	0.25306	0.771000	0.33359	0.555000	0.69702	CAG		0.562	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		A	103899427	C	A	103899427	3	1	696	1	0	0	0	0	1	0	0	0	12415	711	25	4	1180	4	PPRC1	10	103899427	Missense_Mutation	SNP	C	TCGA-KL-8327-01A-11D-2310-10		103899427	31635320	18	38580											
BTBD16	118663	ucsc.edu	37	10	124090744	124090744	+	Missense_Mutation	SNP	G	G	C	rs201203665		TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr10:124090744G>C	ENST00000260723.4	+	12	1308	c.1057G>C	c.(1057-1059)Gac>Cac	p.D353H	BTBD16_ENST00000368994.2_Missense_Mutation_p.D354H	NM_144587.2	NP_653188.2	Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	353										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)				GTCATGGCTCGACCAGGTTAC	0.468																																																0													102	92	96					10																	124090744		2203	4300	6503	SO:0001583	missense	118663			AK058088	CCDS31301.1	10q26.13	2013-01-24	2006-07-04	2006-07-04	ENSG00000138152	ENSG00000138152		"BTB/POZ domain containing"	26340	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 87"	C10orf87			Standard	NM_144587		Approved	FLJ25359, Em:AC061711.1	uc001lgc.1	Q32M84	OTTHUMG00000019182	ENST00000260723.4:c.1057G>C	10.37:g.124090744G>C	ENSP00000260723:p.Asp353His		A6NM63|Q4VXL1|Q96LN0	Missense_Mutation	SNP	ENST00000260723.4	37	CCDS31301.1	.	.	.	.	.	.	.	.	.	.	G	0.020	-1.438838	0.01098	.	.	ENSG00000138152	ENST00000260723;ENST00000368994	T;T	0.16597	2.33;2.33	5.98	-11.7	0.00046	.	1.720820	0.02817	N	0.125135	T	0.05135	0.0137	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	0.19321	-1.0309	10	0.15066	T	0.55	-2.0894	10.4818	0.44698	0.5555:0.2319:0.2126:0.0	.	354;353	Q32M84-2;Q32M84	.;BTBDG_HUMAN	H	353;354	ENSP00000260723:D353H;ENSP00000357990:D354H	ENSP00000260723:D353H	D	+	1	0	BTBD16	124080734	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.195000	0.03043	-3.375000	0.00176	-2.827000	0.00107	GAC		0.468	BTBD16-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050780.3	NM_144587		C	124090744	G	C	124090744	3	2	696	1	0	0	0	0	1	0	0	0	1543	1058	37	4	1099	4	BTBD16	10	124090744	Missense_Mutation	SNP	G	TCGA-KL-8327-01A-11D-2310-10	20191317	124090744	11444003	19	38581											
MRPL49	740	broad.mit.edu;bcgsc.ca	37	11	64889873	64889873	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr11:64889873C>T	ENST00000279242.2	+	1	74	c.55C>T	c.(55-57)Cgg>Tgg	p.R19W	FAU_ENST00000525297.1_5'Flank|MRPL49_ENST00000526171.1_Missense_Mutation_p.R19W|FAU_ENST00000529259.1_5'Flank|FAU_ENST00000529639.1_5'UTR|MRPL49_ENST00000534078.1_Missense_Mutation_p.R19W|FAU_ENST00000531743.1_5'Flank|FAU_ENST00000279259.3_5'Flank|MRPL49_ENST00000531705.1_Missense_Mutation_p.R19W|FAU_ENST00000527548.1_5'Flank|FAU_ENST00000434372.2_5'Flank|MRPL49_ENST00000524482.1_Intron	NM_004927.3	NP_004918.1	Q13405	RM49_HUMAN	mitochondrial ribosomal protein L49	19					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)			endometrium(1)|ovary(1)	2						CGGTGTCCAGCGGGGCTGCGG	0.612																																																0													85	68	74					11																	64889873		2201	4297	6498	SO:0001583	missense	740				CCDS8096.1	11q13.1	2012-11-14	2001-10-16	2001-10-19	ENSG00000149792	ENSG00000149792		"Mitochondrial ribosomal proteins / large subunits"	1176	protein-coding gene	gene with protein product	"neighbor of FAU", "next to FAU"	606866	"chromosome 11 open reading frame 4"	C11orf4		8786148	Standard	NM_004927		Approved	NOF, NOF1, L49mt	uc001oda.2	Q13405	OTTHUMG00000165608	ENST00000279242.2:c.55C>T	11.37:g.64889873C>T	ENSP00000279242:p.Arg19Trp		B2R4G6	Missense_Mutation	SNP	ENST00000279242.2	37	CCDS8096.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.263|7.263	0.605513|0.605513	0.14002|0.14002	.|.	.|.	ENSG00000149792|ENSG00000149792	ENST00000533943|ENST00000534078;ENST00000526171;ENST00000279242;ENST00000531705	.|T;T;T;T	.|0.55760	.|0.5;0.85;0.91;0.88	4.69|4.69	1.76|1.76	0.24704|0.24704	.|.	.|0.798202	.|0.11169	.|N	.|0.592275	T|T	0.35624|0.35624	0.0938|0.0938	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	.|B	.|0.06786	.|0.001	.|B	.|0.01281	.|0.0	T|T	0.23297|0.23297	-1.0192|-1.0192	5|10	.|0.44086	.|T	.|0.13	-6.5055|-6.5055	6.8572|6.8572	0.24048|0.24048	0.0:0.7067:0.0:0.2933|0.0:0.7067:0.0:0.2933	.|.	.|19	.|Q13405	.|RM49_HUMAN	V|W	16|19	.|ENSP00000434222:R19W;ENSP00000437177:R19W;ENSP00000279242:R19W;ENSP00000436740:R19W	.|ENSP00000279242:R19W	A|R	+|+	2|1	0|2	MRPL49|MRPL49	64646449|64646449	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.194000|0.194000	0.23727|0.23727	-0.182000|-0.182000	0.09726|0.09726	0.289000|0.289000	0.22422|0.22422	0.563000|0.563000	0.77884|0.77884	GCG|CGG		0.612	MRPL49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385293.1	NM_004927		T	64889873	C	T	64889873	3	4	696	1	0	0	0	0	1	0	0	0	9815	759	27	1	57	1	MRPL49	11	64889873	Missense_Mutation	SNP	C	TCGA-KL-8327-01A-11D-2310-10		64889873	70116643	20	38582											
CACNA1C	775	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	2788865	2788865	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr12:2788865G>A	ENST00000347598.4	+	44	5491	c.5491G>A	c.(5491-5493)Ggc>Agc	p.G1831S	CACNA1C_ENST00000399638.1_Missense_Mutation_p.G1811S|CACNA1C_ENST00000344100.3_Missense_Mutation_p.G1824S|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000327702.7_Missense_Mutation_p.G1783S|CACNA1C_ENST00000399641.1_Missense_Mutation_p.G1783S|CACNA1C_ENST00000399603.1_Missense_Mutation_p.G1783S|CACNA1C_ENST00000399634.1_Missense_Mutation_p.G1783S|CACNA1C_ENST00000399617.1_Missense_Mutation_p.G1783S|CACNA1C_ENST00000399644.1_Missense_Mutation_p.G1783S|CACNA1C_ENST00000335762.5_Missense_Mutation_p.G1808S|CACNA1C_ENST00000399591.1_Missense_Mutation_p.G1791S|CACNA1C_ENST00000399601.1_Missense_Mutation_p.G1783S|CACNA1C_ENST00000399629.1_Missense_Mutation_p.G1800S|CACNA1C_ENST00000402845.3_Missense_Mutation_p.G1802S|CACNA1C_ENST00000406454.3_Missense_Mutation_p.G1783S|CACNA1C_ENST00000399655.1_Missense_Mutation_p.G1783S|CACNA1C_ENST00000399621.1_Missense_Mutation_p.G1802S|CACNA1C_ENST00000399597.1_Missense_Mutation_p.G1783S|CACNA1C_ENST00000399606.1_Missense_Mutation_p.G1803S|CACNA1C_ENST00000399649.1_Missense_Mutation_p.G1789S|CACNA1C_ENST00000399637.1_Missense_Mutation_p.G1802S|CACNA1C_ENST00000399595.1_Missense_Mutation_p.G1791S	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1831					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TCGCCCCGCCGGCTACCCCAG	0.677																																																0													41	49	46					12																	2788865		2054	4198	6252	SO:0001583	missense	775			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.5491G>A	12.37:g.2788865G>A	ENSP00000266376:p.Gly1831Ser		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	G	5.139	0.211285	0.09757	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.95949	-3.8;-3.79;-3.79;-3.8;-3.79;-3.81;-3.7;-3.75;-3.79;-3.73;-3.72;-3.79;-3.85;-3.72;-3.63;-3.85;-3.8;-3.79;-3.78;-3.73;-3.78;-3.86	5.06	3.19	0.36642	.	2.241760	0.01598	N	0.021892	D	0.92051	0.7481	L	0.41573	1.285	0.26335	N	0.977457	B;P;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.50710	0.003;0.938;0.0;0.004;0.005;0.004;0.003;0.008;0.001;0.003;0.004;0.0;0.003;0.012;0.001;0.003;0.003;0.001;0.004;0.003;0.001;0.004;0.004;0.0;0.001	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.43225	0.002;0.412;0.001;0.003;0.01;0.005;0.002;0.01;0.001;0.002;0.006;0.001;0.003;0.01;0.001;0.004;0.003;0.005;0.006;0.004;0.001;0.007;0.007;0.001;0.002	T	0.82649	-0.0353	10	0.15952	T	0.53	.	3.0471	0.06157	0.1067:0.3219:0.4061:0.1652	.	474;1824;1780;1831;1783;1802;1783;1800;1811;1783;1803;1783;1743;1831;1783;1783;1783;1791;1789;1791;1772;1802;1802;1783;1783	B7Z7Z5;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	S	1808;1783;1783;1811;1783;1802;1802;1791;1783;1831;1803;1783;1824;1800;1783;1789;1802;1783;1783;1783;1783;1791;1613	ENSP00000336982:G1808S;ENSP00000382563:G1783S;ENSP00000382552:G1783S;ENSP00000382547:G1811S;ENSP00000382506:G1783S;ENSP00000382530:G1802S;ENSP00000382546:G1802S;ENSP00000382500:G1791S;ENSP00000382549:G1783S;ENSP00000266376:G1831S;ENSP00000382515:G1803S;ENSP00000382510:G1783S;ENSP00000341092:G1824S;ENSP00000382537:G1800S;ENSP00000329877:G1783S;ENSP00000382557:G1789S;ENSP00000385724:G1802S;ENSP00000382512:G1783S;ENSP00000382542:G1783S;ENSP00000382526:G1783S;ENSP00000385896:G1783S;ENSP00000382504:G1791S	ENSP00000323129:G1613S	G	+	1	0	CACNA1C	2659126	0.981000	0.34729	0.048000	0.18961	0.022000	0.10575	2.143000	0.42187	0.506000	0.28125	0.305000	0.20034	GGC		0.677	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		A	2788865	G	A	2788865	3	1	696	1	0	0	0	0	1	0	0	0	2542	1116	39	1	5896	1	CACNA1C	12	2788865	Missense_Mutation	SNP	G	TCGA-KL-8327-01A-11D-2310-10		2788865	131063030	21	38583											
GRIN2B	2904	broad.mit.edu;bcgsc.ca	37	12	13906390	13906390	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr12:13906390C>T	ENST00000609686.1	-	3	1080	c.871G>A	c.(871-873)Gcc>Acc	p.A291T		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	291					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)	CTCACTCTGGCGGGGAGGCCA	0.537																																																0													98	87	91					12																	13906390		2203	4300	6503	SO:0001583	missense	2904				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.871G>A	12.37:g.13906390C>T	ENSP00000477455:p.Ala291Thr		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.974696	0.53720	.	.	ENSG00000150086	ENST00000279593	T	0.04970	3.52	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.07413	0.0187	L	0.39245	1.2	0.80722	D	1	P	0.35050	0.482	B	0.24701	0.055	T	0.31998	-0.9923	10	0.34782	T	0.22	.	20.1865	0.98220	0.0:1.0:0.0:0.0	.	291	Q13224	NMDE2_HUMAN	T	291	ENSP00000279593:A291T	ENSP00000279593:A291T	A	-	1	0	GRIN2B	13797657	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.627000	0.61276	2.775000	0.95449	0.655000	0.94253	GCC		0.537	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			T	13906390	C	T	13906390	3	4	696	1	0	0	0	0	1	0	0	0	6782	768	27	1	3627	1	GRIN2B	12	13906390	Missense_Mutation	SNP	C	TCGA-KL-8327-01A-11D-2310-10	11117525	13906390	119945505	22	38584											
CSAD	51380	ucsc.edu	37	12	53565216	53565216	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr12:53565216A>G	ENST00000444623.1	-	8	728	c.461T>C	c.(460-462)aTc>aCc	p.I154T	CSAD_ENST00000542115.1_3'UTR|CSAD_ENST00000491654.1_5'Flank|CSAD_ENST00000453446.2_Missense_Mutation_p.I154T|CSAD_ENST00000267085.4_Missense_Mutation_p.I181T|CSAD_ENST00000379846.1_Intron|CSAD_ENST00000379843.3_Intron	NM_001244705.1	NP_001231634.1	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	154					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)|taurine biosynthetic process (GO:0042412)		pyridoxal phosphate binding (GO:0030170)|sulfinoalanine decarboxylase activity (GO:0004782)			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)	CATGTTGGAGATGGAGCCACC	0.597																																					Ovarian(109;252 1546 16882 28524 44645)											0													45	43	44					12																	53565216		2203	4300	6503	SO:0001583	missense	51380			AB044561	CCDS8848.2, CCDS58235.1	12q13.11-q14.3	2008-08-04			ENSG00000139631	ENSG00000139631			18966	protein-coding gene	gene with protein product	"P-selectin cytoplasmic tail-associated protein"					15489334	Standard	NM_015989		Approved	PCAP, CSD	uc001sbz.3	Q9Y600	OTTHUMG00000048076	ENST00000444623.1:c.461T>C	12.37:g.53565216A>G	ENSP00000415485:p.Ile154Thr		A8K0U4|Q4QQH9|Q9UNJ5|Q9Y601	Missense_Mutation	SNP	ENST00000444623.1	37	CCDS58235.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.108478	0.77096	.	.	ENSG00000139631	ENST00000308926;ENST00000267085;ENST00000544139;ENST00000444623;ENST00000453446;ENST00000454442;ENST00000437073	T;T;T;T	0.38887	1.11;1.11;1.11;1.11	5.36	5.36	0.76844	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.260572	0.43260	D	0.000582	T	0.39989	0.1099	L	0.28740	0.885	0.80722	D	1	B;B	0.27971	0.163;0.196	B;B	0.39771	0.309;0.296	T	0.27773	-1.0064	10	0.33141	T	0.24	-19.1094	14.6573	0.68844	1.0:0.0:0.0:0.0	.	181;154	Q9Y600-3;Q9Y600	.;CSAD_HUMAN	T	243;181;154;154;154;48;154	ENSP00000267085:I181T;ENSP00000415485:I154T;ENSP00000410648:I154T;ENSP00000415314:I154T	ENSP00000267085:I181T	I	-	2	0	CSAD	51851483	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.657000	0.67996	2.166000	0.68216	0.533000	0.62120	ATC		0.597	CSAD-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343697.1	NM_015989		G	53565216	A	G	53565216	3	3	696	1	0	0	0	0	1	0	0	0	3927	333	12	3	1060	3	CSAD	12	53565216	Missense_Mutation	SNP	A	TCGA-KL-8327-01A-11D-2310-10	39658826	53565216	80286679	23	38585											
SMARCC2	6601	broad.mit.edu	37	12	56578007	56578007	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr12:56578007T>C	ENST00000267064.4	-	6	600	c.514A>G	c.(514-516)Aac>Gac	p.N172D	RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Missense_Mutation_p.N172D|SMARCC2_ENST00000550164.1_Missense_Mutation_p.N172D|SMARCC2_ENST00000550859.1_5'UTR|SMARCC2_ENST00000394023.3_Missense_Mutation_p.N172D	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	172					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)			GAGGCATTGTTCTTATCCTCA	0.493																																																0													115	92	100					12																	56578007		2203	4300	6503	SO:0001583	missense	6601			U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.514A>G	12.37:g.56578007T>C	ENSP00000267064:p.Asn172Asp		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Missense_Mutation	SNP	ENST00000267064.4	37	CCDS8907.1	.	.	.	.	.	.	.	.	.	.	T	13.73	2.324727	0.41197	.	.	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000347471;ENST00000267064	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	5.38	4.24	0.50183	BRCT (1);	0.717108	0.14170	N	0.336810	T	0.25494	0.0620	N	0.02011	-0.69	0.22066	N	0.999386	B;B;B;B;B	0.18310	0.016;0.027;0.016;0.016;0.027	B;B;B;B;B	0.17098	0.007;0.017;0.007;0.007;0.017	T	0.17623	-1.0363	10	0.21014	T	0.42	-3.7705	10.4059	0.44256	0.0:0.0781:0.0:0.9219	.	61;172;177;172;172	B4DF22;F8VTJ5;Q59G16;Q8TAQ2;Q8TAQ2-2	.;.;.;SMRC2_HUMAN;.	D	172	ENSP00000377591:N172D;ENSP00000449396:N172D;ENSP00000302919:N172D;ENSP00000267064:N172D	ENSP00000267064:N172D	N	-	1	0	SMARCC2	54864274	0.111000	0.22076	0.997000	0.53966	0.994000	0.84299	0.392000	0.20801	1.002000	0.39104	0.459000	0.35465	AAC		0.493	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			C	56578007	T	C	56578007	3	2	696	1	0	0	0	0	1	0	0	0	14782	1783	62	3	3319	3	SMARCC2	12	56578007	Missense_Mutation	SNP	T	TCGA-KL-8327-01A-11D-2310-10	3012791	56578007	77273888	24	38586											
NOC4L	79050	ucsc.edu	37	12	132632437	132632437	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr12:132632437T>C	ENST00000330579.1	+	6	657	c.616T>C	c.(616-618)Ttt>Ctt	p.F206L	NOC4L_ENST00000535343.1_3'UTR|NOC4L_ENST00000538784.1_5'Flank	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog (S. cerevisiae)	206					rRNA processing (GO:0006364)	integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		GCCCCCCGCCTTTTGGAACAA	0.682																																																0													27	30	29					12																	132632437		2188	4296	6484	SO:0001583	missense	79050				CCDS9277.1	12q24.33	2011-08-12			ENSG00000184967	ENSG00000184967			28461	protein-coding gene	gene with protein product		612819				12446671	Standard	NM_024078		Approved	MGC3162, NET49, UTP19	uc001ujz.1	Q9BVI4	OTTHUMG00000168260	ENST00000330579.1:c.616T>C	12.37:g.132632437T>C	ENSP00000328854:p.Phe206Leu		Q8N2S5|Q96I14	Missense_Mutation	SNP	ENST00000330579.1	37	CCDS9277.1	.	.	.	.	.	.	.	.	.	.	T	10.97	1.500413	0.26861	.	.	ENSG00000184967	ENST00000330579;ENST00000541954	T;T	0.63580	-0.05;1.51	5.1	3.9	0.45041	Armadillo-like helical (1);	0.170682	0.51477	N	0.000091	T	0.42787	0.1218	L	0.33485	1.01	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.22626	-1.0211	10	0.05721	T	0.95	-28.2025	7.9495	0.30006	0.0:0.0957:0.0:0.9043	.	206	Q9BVI4	NOC4L_HUMAN	L	206;173	ENSP00000328854:F206L;ENSP00000438255:F173L	ENSP00000328854:F206L	F	+	1	0	NOC4L	131198390	0.988000	0.35896	0.481000	0.27354	0.018000	0.09664	2.192000	0.42649	0.731000	0.32448	0.496000	0.49642	TTT		0.682	NOC4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398999.1	NM_024078		C	132632437	T	C	132632437	3	2	696	1	0	0	0	0	1	0	0	0	10517	1609	56	3	638	3	NOC4L	12	132632437	Missense_Mutation	SNP	T	TCGA-KL-8327-01A-11D-2310-10	76054430	132632437	1219458	25	38587											
SLC25A29	123096	ucsc.edu;mdanderson.org	37	14	100758955	100758955	+	Silent	SNP	G	G	A			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr14:100758955G>A	ENST00000359232.3	-	4	877	c.577C>T	c.(577-579)Ctg>Ttg	p.L193L	SLC25A29_ENST00000554912.1_Silent_p.L127L|SLC25A29_ENST00000556505.1_Silent_p.L127L|SLC25A29_ENST00000539621.1_Silent_p.L127L|SLC25A29_ENST00000392908.3_3'UTR|SLC25A29_ENST00000555927.1_Silent_p.L127L|RP11-638I2.6_ENST00000556458.1_lincRNA|AL157871.2_ENST00000553954.1_RNA	NM_001039355.1	NP_001034444.1	Q8N8R3	MCATL_HUMAN	solute carrier family 25 (mitochondrial carnitine/acylcarnitine carrier), member 29	193						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	acyl carnitine transmembrane transporter activity (GO:0015227)			NS(1)|endometrium(1)|ovary(1)	3		Melanoma(154;0.152)			L-Carnitine(DB00583)	CCCGCCAACAGCAGCTTGGGC	0.692																																																0													26	18	21					14																	100758955		2186	4284	6470	SO:0001819	synonymous_variant	123096			AK095532	CCDS32156.1	14q32.2	2013-05-22	2012-03-29	2004-01-21	ENSG00000197119	ENSG00000197119		"Solute carriers"	20116	protein-coding gene	gene with protein product		615064	"chromosome 14 open reading frame 69", "solute carrier family 25, member 29"	C14orf69			Standard	XM_005267343		Approved	FLJ38975	uc010twx.2	Q8N8R3	OTTHUMG00000171569	ENST00000359232.3:c.577C>T	14.37:g.100758955G>A			A3KMR5|Q541V0	Silent	SNP	ENST00000359232.3	37	CCDS32156.1																																																																																				0.692	SLC25A29-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072449.3			A	100758955	G	A	100758955	2	1	696	1	0	0	0	0	0	0	0	1	14498	962	34	2		2	SLC25A29	14	100758955	Silent	SNP	G	TCGA-KL-8327-01A-11D-2310-10		100758955	6590585	26	38588											
CSPG4	1464	mdanderson.org	37	15	75981944	75981944	+	Missense_Mutation	SNP	C	C	T	rs72732868	byFrequency	TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr15:75981944C>T	ENST00000308508.5	-	3	1554	c.1462G>A	c.(1462-1464)Gcc>Acc	p.A488T		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	488	Globular or compact configuration stabilized by disulfide bonds.|Neurite growth inhibition. {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						CGTGCCTGGGCTCCCGGGATG	0.637													C|||	30	0.00599042	0.0023	0.0043	5008	,	,		21686	0.0119		0.004	False		,,,				2504	0.0082															0													59	55	57					15																	75981944		2197	4292	6489	SO:0001583	missense	1464			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.1462G>A	15.37:g.75981944C>T	ENSP00000312506:p.Ala488Thr		D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	37	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	.	7.683	0.689502	0.14973	.	.	ENSG00000173546	ENST00000308508	T	0.19669	2.13	5.12	5.12	0.69794	.	0.093684	0.44902	D	0.000419	T	0.17323	0.0416	L	0.49350	1.555	0.40778	D	0.983141	P	0.38020	0.615	B	0.33196	0.159	T	0.04961	-1.0915	10	0.11794	T	0.64	.	13.061	0.59008	0.1615:0.8385:0.0:0.0	.	488	Q6UVK1	CSPG4_HUMAN	T	488	ENSP00000312506:A488T	ENSP00000312506:A488T	A	-	1	0	CSPG4	73768999	0.998000	0.40836	0.608000	0.28969	0.011000	0.07611	3.620000	0.54203	2.375000	0.81037	0.555000	0.69702	GCC		0.637	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		T	75981944	C	T	75981944	3	4	696	1	0	0	0	0	1	0	0	0	3962	797	28	2	5538	2	CSPG4	15	75981944	Missense_Mutation	SNP	C	TCGA-KL-8327-01A-11D-2310-10		75981944	26549448	27	38589											
HYDIN	54768	broad.mit.edu	37	16	70884529	70884529	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr16:70884529T>C	ENST00000393567.2	-	74	12623	c.12473A>G	c.(12472-12474)aAg>aGg	p.K4158R	RNU6ATAC25P_ENST00000408798.1_RNA	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4158					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)				TCCTTCCTGCTTTGGTGTGAA	0.408																																																0													75	64	67					16																	70884529		1855	4105	5960	SO:0001583	missense	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.12473A>G	16.37:g.70884529T>C	ENSP00000377197:p.Lys4158Arg		A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	T	18.29	3.592091	0.66219	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.01051	5.4	5.56	5.56	0.83823	.	0.515744	0.14146	U	0.338329	T	0.02267	0.0070	L	0.52126	1.63	0.80722	D	1	B	0.30193	0.272	B	0.40199	0.322	T	0.62210	-0.6902	10	0.20519	T	0.43	.	11.053	0.47901	0.0:0.0:0.2775:0.7225	.	4157	F8WD23	.	R	4158;4157	ENSP00000377197:K4158R	ENSP00000313052:K4157R	K	-	2	0	HYDIN	69442030	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.665000	0.46791	2.113000	0.64589	0.418000	0.28097	AAG		0.408	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			C	70884529	T	C	70884529	3	2	696	1	0	0	0	0	1	0	0	0	7469	1609	56	3	2944	3	HYDIN	16	70884529	Missense_Mutation	SNP	T	TCGA-KL-8327-01A-11D-2310-10		70884529	19470224	28	38590											
COX4NB	10328	broad.mit.edu	37	16	85822626	85822626	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr16:85822626C>T	ENST00000253457.3	-	2	506	c.262G>A	c.(262-264)Gtg>Atg	p.V88M	RP11-568J23.5_ENST00000602706.1_RNA|EMC8_ENST00000435200.2_Missense_Mutation_p.V88M	NM_006067.4	NP_006058.1	O43402	EMC8_HUMAN	ER membrane protein complex subunit 8	88						cytoplasm (GO:0005737)|ER membrane protein complex (GO:0072546)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											CCAGCAATCACGTAGCTATGA	0.438																																																0													192	151	165					16																	85822626		2198	4300	6498	SO:0001583	missense	10328			AF005888	CCDS10954.1, CCDS45541.1	16q24	2012-05-30	2012-05-30	2012-05-30	ENSG00000131148	ENSG00000131148			7864	protein-coding gene	gene with protein product	"family with sequence similarity 158, member B"	604886	"chromosome 16 open reading frame 4", "neighbor of COX4", "chromosome 16 open reading frame 2", "COX4 neighbor"	C16orf4, NOC4, C16orf2, COX4NB		10337626, 22119785	Standard	NM_006067		Approved	FAM158B	uc002fjd.3	O43402	OTTHUMG00000137647	ENST00000253457.3:c.262G>A	16.37:g.85822626C>T	ENSP00000253457:p.Val88Met		C9JB21	Missense_Mutation	SNP	ENST00000253457.3	37	CCDS10954.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.169822	0.78452	.	.	ENSG00000131148	ENST00000253457;ENST00000435200	T;T	0.46063	0.88;0.88	5.62	5.62	0.85841	.	0.114900	0.64402	D	0.000017	T	0.62036	0.2395	M	0.64567	1.98	0.58432	D	0.999997	D	0.76494	0.999	D	0.64237	0.923	T	0.59915	-0.7364	10	0.46703	T	0.11	-25.8182	19.6758	0.95932	0.0:1.0:0.0:0.0	.	88	O43402	CX4NB_HUMAN	M	88	ENSP00000253457:V88M;ENSP00000391730:V88M	ENSP00000253457:V88M	V	-	1	0	COX4NB	84380127	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.394000	0.52551	2.644000	0.89710	0.561000	0.74099	GTG		0.438	EMC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269099.1	NM_006067		T	85822626	C	T	85822626	3	4	696	1	0	0	0	0	1	0	0	0	3773	536	19	1	386	1	COX4NB	16	85822626	Missense_Mutation	SNP	C	TCGA-KL-8327-01A-11D-2310-10	14938097	85822626	4532127	29	38591											
RCVRN	5957	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	17	9808240	9808240	+	Silent	SNP	G	G	A			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr17:9808240G>A	ENST00000226193.5	-	1	698	c.258C>T	c.(256-258)taC>taT	p.Y86Y		NM_002903.2	NP_002894.1	P35243	RECO_HUMAN	recoverin	86	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				phototransduction, visible light (GO:0007603)|positive regulation of guanylate cyclase activity (GO:0031284)|regulation of calcium ion transport (GO:0051924)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|visual perception (GO:0007601)	dendrite (GO:0030425)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)			endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	12						GGGCGATGACGTACTCCTTGA	0.607																																																0													191	140	158					17																	9808240		2203	4300	6503	SO:0001819	synonymous_variant	5957			BC001720	CCDS11151.1	17p13.1	2013-01-10		2006-09-26	ENSG00000109047	ENSG00000109047		"EF-hand domain containing"	9937	protein-coding gene	gene with protein product		179618		RCV1		1387789, 12507501, 1467959, 12789533	Standard	NM_002903		Approved		uc002gme.1	P35243	OTTHUMG00000130268	ENST00000226193.5:c.258C>T	17.37:g.9808240G>A			Q53XL0	Silent	SNP	ENST00000226193.5	37	CCDS11151.1																																																																																				0.607	RCVRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252600.2	NM_002903		A	9808240	G	A	9808240	2	1	696	1	0	0	0	0	0	0	0	1	13192	1140	40	1		1	RCVRN	17	9808240	Silent	SNP	G	TCGA-KL-8327-01A-11D-2310-10		9808240	71386970	30	38592											
ELAC2	60528	bcgsc.ca	37	17	12908367	12908367	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr17:12908367C>T	ENST00000338034.4	-	11	1161	c.922G>A	c.(922-924)Gtg>Atg	p.V308M	ELAC2_ENST00000609345.1_5'UTR|ELAC2_ENST00000395962.2_Missense_Mutation_p.V289M|ELAC2_ENST00000426905.3_Missense_Mutation_p.V268M	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	308					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						CATTCTACCACCACAAAAGCA	0.512																																																0													201	193	196					17																	12908367		2203	4300	6503	SO:0001583	missense	60528			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.922G>A	17.37:g.12908367C>T	ENSP00000337445:p.Val308Met		B4DPL9|Q6IA94|Q9HAS8|Q9HAS9|Q9NVT1	Missense_Mutation	SNP	ENST00000338034.4	37	CCDS11164.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.59|13.59	2.282467|2.282467	0.40394|0.40394	.|.	.|.	ENSG00000006744|ENSG00000006744	ENST00000446899|ENST00000426905;ENST00000338034;ENST00000395962;ENST00000457438	.|T;T;T	.|0.55930	.|0.49;0.49;0.49	4.78|4.78	4.78|4.78	0.61160|0.61160	.|.	.|0.202456	.|0.40818	.|N	.|0.001001	T|T	0.71904|0.71904	0.3395|0.3395	M|M	0.80183|0.80183	2.485|2.485	0.58432|0.58432	D|D	0.999992|0.999992	.|D;D;D;D;D;D	.|0.76494	.|0.996;0.999;0.997;0.999;0.998;0.996	.|P;D;D;D;D;D	.|0.71870	.|0.859;0.957;0.975;0.957;0.925;0.925	T|T	0.75825|0.75825	-0.3181|-0.3181	5|10	.|0.87932	.|D	.|0	-29.6091|-29.6091	13.501|13.501	0.61454|0.61454	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|268;291;289;131;308;68	.|B4DPL9;E9PGJ0;G5E9D5;E7ES68;Q9BQ52;B3KSU9	.|.;.;.;.;RNZ2_HUMAN;.	D|M	87|268;308;289;18	.|ENSP00000405223:V268M;ENSP00000337445:V308M;ENSP00000379291:V289M	.|ENSP00000337445:V308M	G|V	-|-	2|1	0|0	ELAC2|ELAC2	12849092|12849092	0.996000|0.996000	0.38824|0.38824	0.952000|0.952000	0.39060|0.39060	0.947000|0.947000	0.59692|0.59692	3.430000|3.430000	0.52807|0.52807	2.627000|2.627000	0.88993|0.88993	0.655000|0.655000	0.94253|0.94253	GGT|GTG		0.512	ELAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129934.5			T	12908367	C	T	12908367	3	4	696	1	0	0	0	0	1	0	0	0	5049	507	18	2	1614	2	ELAC2	17	12908367	Missense_Mutation	SNP	C	TCGA-KL-8327-01A-11D-2310-10	3100127	12908367	68286843	31	38593											
SLC5A10	125206	hgsc.bcm.edu	37	17	18923480	18923480	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr17:18923480A>G	ENST00000395645.3	+	14	1657	c.1639A>G	c.(1639-1641)Acc>Gcc	p.T547A	SLC5A10_ENST00000317977.6_Missense_Mutation_p.T517A|SLC5A10_ENST00000395647.2_Missense_Mutation_p.T563A|SLC5A10_ENST00000395643.2_Missense_Mutation_p.T520A|SLC5A10_ENST00000417251.2_Missense_Mutation_p.T511A|SLC5A10_ENST00000395642.1_Missense_Mutation_p.T517A	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	547					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						TGAGAACCTTACCTGGTGGAC	0.577																																																0													112	106	108					17																	18923480		2203	4300	6503	SO:0001583	missense	125206				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.1639A>G	17.37:g.18923480A>G	ENSP00000379007:p.Thr547Ala		A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	Missense_Mutation	SNP	ENST00000395645.3	37	CCDS42275.1	.	.	.	.	.	.	.	.	.	.	A	17.47	3.398343	0.62177	.	.	ENSG00000154025	ENST00000317977;ENST00000395647;ENST00000395642;ENST00000417251;ENST00000395645;ENST00000395643	D;D;D;D;D;D	0.92048	-2.96;-2.43;-2.96;-2.45;-2.36;-2.47	5.43	5.43	0.79202	.	0.138064	0.64402	D	0.000003	D	0.94172	0.8130	M	0.87682	2.9	0.58432	D	0.999995	P;P;P;P;P	0.48911	0.773;0.917;0.864;0.917;0.859	B;P;B;P;P	0.47786	0.354;0.557;0.265;0.557;0.511	D	0.94730	0.7909	10	0.59425	D	0.04	.	14.6029	0.68453	1.0:0.0:0.0:0.0	.	511;520;547;563;517	B4DPI0;A0PJK1-2;A0PJK1;A0PJK1-4;A0PJK1-3	.;.;SC5AA_HUMAN;.;.	A	517;563;517;511;547;520	ENSP00000324346:T517A;ENSP00000379008:T563A;ENSP00000379004:T517A;ENSP00000401875:T511A;ENSP00000379007:T547A;ENSP00000379005:T520A	ENSP00000324346:T517A	T	+	1	0	SLC5A10	18864205	0.937000	0.31787	0.954000	0.39281	0.964000	0.63967	6.425000	0.73370	2.191000	0.70037	0.529000	0.55759	ACC		0.577	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132129.2	NM_152351		G	18923480	A	G	18923480	3	3	696	1	0	0	0	0	1	0	0	0	14668	391	14	3	1741	3	SLC5A10	17	18923480	Missense_Mutation	SNP	A	TCGA-KL-8327-01A-11D-2310-10	6015113	18923480	62271730	32	38594											
CDK12	51755	broad.mit.edu	37	17	37657501	37657501	+	Splice_Site	SNP	A	A	G			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr17:37657501A>G	ENST00000447079.4	+	6	2452		c.e6-1		CDK12_ENST00000430627.2_Splice_Site	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12						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						GTCTTTATGTAGGTGCCTTTT	0.353			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)																													Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	0													97	96	96					17																	37657501		2203	4300	6503	SO:0001630	splice_region_variant	51755			AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"Cyclin-dependent kinases"	24224	protein-coding gene	gene with protein product	"CDC2 related protein kinase 7"	615514	"Cdc2-related kinase, arginine/serine-rich"	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.2420-1A>G	17.37:g.37657501A>G			A7E2B2|B4DYX4|B9EIQ6|O94978	Splice_Site	SNP	ENST00000447079.4	37	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	a	24.9	4.581417	0.86748	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2004	0.82067	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDK12	34911027	1.000000	0.71417	0.966000	0.40874	0.957000	0.61999	9.206000	0.95056	2.233000	0.73108	0.529000	0.55759	.		0.353	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507	Intron	G	37657501	A	G	37657501	5	3	696	1	0	0	0	0	0	0	1	0	3130	434	15	3	2440	3	CDK12	17	37657501	Splice_Site	SNP	A	TCGA-KL-8327-01A-11D-2310-10	18734021	37657501	43537709	33	38595											
CDH2	1000	broad.mit.edu;mdanderson.org	37	18	25543442	25543442	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr18:25543442G>A	ENST00000269141.3	-	15	2816	c.2393C>T	c.(2392-2394)cCt>cTt	p.P798L	CDH2_ENST00000399380.3_Missense_Mutation_p.P767L|AC015933.2_ENST00000423367.1_RNA	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	798					adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GATGGCATCAGGCTCCACAGT	0.532																																																0													84	68	73					18																	25543442		2203	4300	6503	SO:0001583	missense	1000			S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"CD molecules", "Cadherins / Major cadherins"	1759	protein-coding gene	gene with protein product	"N-cadherin"	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.2393C>T	18.37:g.25543442G>A	ENSP00000269141:p.Pro798Leu		A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	37	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	G	33	5.283649	0.95489	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.61158	0.17;0.13	6.16	6.16	0.99307	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	T	0.67942	0.2947	L	0.28694	0.88	0.80722	D	1	P;D	0.71674	0.866;0.998	P;D	0.69142	0.735;0.962	T	0.65631	-0.6121	10	0.48119	T	0.1	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	767;798	A8MWK3;P19022	.;CADH2_HUMAN	L	798;767	ENSP00000269141:P798L;ENSP00000382312:P767L	ENSP00000269141:P798L	P	-	2	0	CDH2	23797440	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.163000	0.71880	2.937000	0.99478	0.650000	0.86243	CCT		0.532	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792		A	25543442	G	A	25543442	3	1	696	1	0	0	0	0	1	0	0	0	3107	1000	35	2	335	2	CDH2	18	25543442	Missense_Mutation	SNP	G	TCGA-KL-8327-01A-11D-2310-10		25543442	52533806	34	38596											
TCF4	6925	ucsc.edu;mdanderson.org;bcgsc.ca	37	18	52937134	52937134	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr18:52937134G>A	ENST00000356073.4	-	11	1461	c.850C>T	c.(850-852)Cat>Tat	p.H284Y	TCF4_ENST00000568740.1_Missense_Mutation_p.H259Y|TCF4_ENST00000540999.1_Missense_Mutation_p.H260Y|TCF4_ENST00000567880.1_Missense_Mutation_p.H224Y|TCF4_ENST00000354452.3_Missense_Mutation_p.H284Y|TCF4_ENST00000537578.1_Missense_Mutation_p.H260Y|TCF4_ENST00000564999.1_Missense_Mutation_p.H284Y|TCF4_ENST00000561831.3_Missense_Mutation_p.H124Y|TCF4_ENST00000537856.3_Missense_Mutation_p.H154Y|TCF4_ENST00000570287.2_Missense_Mutation_p.H124Y|TCF4_ENST00000398339.1_Missense_Mutation_p.H386Y|TCF4_ENST00000568673.1_Missense_Mutation_p.H260Y|TCF4_ENST00000566279.1_Missense_Mutation_p.H224Y|TCF4_ENST00000570177.2_Missense_Mutation_p.H154Y|TCF4_ENST00000544241.2_Missense_Mutation_p.H213Y|TCF4_ENST00000543082.1_Missense_Mutation_p.H242Y|TCF4_ENST00000563760.1_5'UTR|TCF4_ENST00000564403.2_Missense_Mutation_p.H290Y|TCF4_ENST00000565018.2_Missense_Mutation_p.H284Y|TCF4_ENST00000457482.3_Missense_Mutation_p.H124Y|TCF4_ENST00000564228.1_Missense_Mutation_p.H213Y|TCF4_ENST00000561992.1_Missense_Mutation_p.H154Y|TCF4_ENST00000566286.1_Missense_Mutation_p.H282Y	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4	284					DNA-templated transcription, initiation (GO:0006352)|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)|protein-DNA complex assembly (GO:0065004)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|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 recruiting transcription factor activity (GO:0001011)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TFIIB-class binding transcription factor activity (GO:0001087)|TFIIB-class transcription factor binding (GO:0001093)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		CCACTACGATGGAAAGTGGAC	0.453																																																0													185	155	165					18																	52937134		2203	4300	6503	SO:0001583	missense	6925			M74719	CCDS11960.1, CCDS42438.1, CCDS58623.1, CCDS58624.1, CCDS58625.1, CCDS58626.1, CCDS58627.1, CCDS58628.1, CCDS58629.1, CCDS58630.1, CCDS58631.1, CCDS59321.1	18q21.1	2013-05-21			ENSG00000196628	ENSG00000196628		"Basic helix-loop-helix proteins"	11634	protein-coding gene	gene with protein product		602272				9302263, 2308860	Standard	NM_001083962		Approved	SEF2-1B, ITF2, bHLHb19, E2-2	uc002lga.3	P15884	OTTHUMG00000132713	ENST00000356073.4:c.850C>T	18.37:g.52937134G>A	ENSP00000348374:p.His284Tyr		B3KT62|B3KUC0|B4DT37|B4DUG3|B7Z5M6|B7Z6Y1|G0LNT9|G0LNU0|G0LNU1|G0LNU2|G0LNU4|G0LNU5|G0LNU8|G0LNU9|G0LNV0|G0LNV1|G0LNV2|H3BPQ1|Q08AP2|Q08AP3|Q15439|Q15440|Q15441	Missense_Mutation	SNP	ENST00000356073.4	37	CCDS11960.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.011236	0.75046	.	.	ENSG00000196628	ENST00000354452;ENST00000457482;ENST00000356073;ENST00000543082;ENST00000540999;ENST00000537578;ENST00000544241;ENST00000537856;ENST00000398339	T;T;T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97	5.8	5.8	0.92144	.	0.146061	0.64402	D	0.000009	T	0.47040	0.1424	L	0.55481	1.735	0.80722	D	1	B;P;B;B;B;B;B;B;B;B	0.42375	0.052;0.778;0.188;0.007;0.209;0.344;0.112;0.052;0.007;0.2	B;B;B;B;B;B;B;B;B;B	0.42827	0.056;0.399;0.1;0.017;0.084;0.053;0.038;0.038;0.009;0.069	T	0.47018	-0.9149	10	0.62326	D	0.03	-7.2002	18.8159	0.92076	0.0:0.0:1.0:0.0	.	260;284;260;124;386;284;242;213;124;282	B7Z5M6;G0LNT9;B7Z6Y1;G0LNV1;E9PH57;P15884;B3KUC0;B3KT62;G0LNU9;G0LNU5	.;.;.;.;.;ITF2_HUMAN;.;.;.;.	Y	284;124;284;242;260;260;213;154;386	ENSP00000346440:H284Y;ENSP00000409447:H124Y;ENSP00000348374:H284Y;ENSP00000439656:H242Y;ENSP00000445202:H260Y;ENSP00000440731:H260Y;ENSP00000441562:H213Y;ENSP00000439827:H154Y;ENSP00000381382:H386Y	ENSP00000346440:H284Y	H	-	1	0	TCF4	51088132	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.998000	0.93550	2.734000	0.93682	0.460000	0.39030	CAT		0.453	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256014.1	NM_003199		A	52937134	G	A	52937134	3	1	696	1	0	0	0	0	1	0	0	0	15700	1348	47	2	1201	2	TCF4	18	52937134	Missense_Mutation	SNP	G	TCGA-KL-8327-01A-11D-2310-10	27393692	52937134	25140114	35	38597											
ALPK2	115701	hgsc.bcm.edu	37	18	56202992	56202992	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr18:56202992T>C	ENST00000361673.3	-	5	4640	c.4427A>G	c.(4426-4428)aAg>aGg	p.K1476R	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1476			K -> T (in a melanoma metastatic sample; somatic mutation). {ECO:0000269|PubMed:17344846}.			nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.K837T(1)		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						AGCCTCCTGCTTCATACTGCC	0.493																																																1	Substitution - Missense(1)	ovary(1)											57	59	58					18																	56202992		2203	4300	6503	SO:0001583	missense	115701			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"Immunoglobulin superfamily / I-set domain containing"	20565	protein-coding gene	gene with protein product	"heart alpha-kinase"					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.4427A>G	18.37:g.56202992T>C	ENSP00000354991:p.Lys1476Arg		Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	T	0.019	-1.456971	0.01071	.	.	ENSG00000198796	ENST00000361673	T	0.37411	1.2	3.9	2.0	0.26442	.	156.464000	0.00166	N	0.000000	T	0.19685	0.0473	N	0.13098	0.295	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.24225	-1.0166	10	0.02654	T	1	-0.5955	4.7766	0.13182	0.0:0.6527:0.222:0.1254	.	1471;1476	Q86TB3-2;Q86TB3	.;ALPK2_HUMAN	R	1476	ENSP00000354991:K1476R	ENSP00000354991:K1476R	K	-	2	0	ALPK2	54353972	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.134000	0.10436	0.534000	0.28695	-0.456000	0.05471	AAG		0.493	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		C	56202992	T	C	56202992	3	2	696	1	0	0	0	0	1	0	0	0	545	1609	56	3	2121	3	ALPK2	18	56202992	Missense_Mutation	SNP	T	TCGA-KL-8327-01A-11D-2310-10	3265858	56202992	21874256	36	38598											
ZNF439	90594	hgsc.bcm.edu	37	19	11979212	11979212	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr19:11979212G>A	ENST00000304030.2	+	3	1528	c.1328G>A	c.(1327-1329)tGt>tAt	p.C443Y	ZNF439_ENST00000455282.1_Missense_Mutation_p.C307Y|ZNF439_ENST00000592534.1_Intron	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	443					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						TGTAAGGAATGTGGGAAAGCT	0.438																																																0													69	64	66					19																	11979212		2203	4300	6503	SO:0001583	missense	90594			AL833935	CCDS12268.1	19p13.13	2013-01-08			ENSG00000171291	ENSG00000171291		"Zinc fingers, C2H2-type", "-"	20873	protein-coding gene	gene with protein product							Standard	NM_152262		Approved	DKFZp571K0837	uc002mss.3	Q8NDP4	OTTHUMG00000156527	ENST00000304030.2:c.1328G>A	19.37:g.11979212G>A	ENSP00000305077:p.Cys443Tyr		Q8IYZ7|Q96SU1	Missense_Mutation	SNP	ENST00000304030.2	37	CCDS12268.1	.	.	.	.	.	.	.	.	.	.	g	14.21	2.468878	0.43839	.	.	ENSG00000171291	ENST00000455282;ENST00000304030	D;D	0.85861	-2.04;-2.04	0.749	0.749	0.18381	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93245	0.7848	H	0.95294	3.65	0.40313	D	0.978732	D	0.89917	1.0	D	0.97110	1.0	D	0.92639	0.6123	9	0.87932	D	0	.	9.0493	0.36367	0.0:0.0:1.0:0.0	.	443	Q8NDP4	ZN439_HUMAN	Y	307;443	ENSP00000395632:C307Y;ENSP00000305077:C443Y	ENSP00000305077:C443Y	C	+	2	0	ZNF439	11840212	1.000000	0.71417	0.008000	0.14137	0.080000	0.17528	7.315000	0.78998	0.716000	0.32124	0.194000	0.17425	TGT		0.438	ZNF439-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344513.1			A	11979212	G	A	11979212	3	1	696	1	0	0	0	0	1	0	0	0	17916	1377	48	2	1338	2	ZNF439	19	11979212	Missense_Mutation	SNP	G	TCGA-KL-8327-01A-11D-2310-10		11979212	47149771	37	38599											
CACNA1A	773	bcgsc.ca	37	19	13366015	13366015	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr19:13366015T>C	ENST00000360228.5	-	29	4648	c.4649A>G	c.(4648-4650)aAc>aGc	p.N1550S	CACNA1A_ENST00000574822.1_5'Flank|CACNA1A_ENST00000573710.2_Missense_Mutation_p.N1551S	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1551					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	GCTCTGCTTGTTCTGCGGCAT	0.597																																																0													70	78	75					19																	13366015		2151	4247	6398	SO:0001583	missense	773			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.4649A>G	19.37:g.13366015T>C	ENSP00000353362:p.Asn1550Ser		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	T	16.25	3.071462	0.55646	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084;ENST00000445042	D	0.96011	-3.88	4.79	4.79	0.61399	.	0.187057	0.43747	D	0.000533	D	0.96549	0.8874	M	0.93594	3.435	0.54753	D	0.999987	P;P;D;P	0.58268	0.745;0.835;0.982;0.745	B;P;P;B	0.45195	0.275;0.465;0.473;0.275	D	0.97011	0.9736	10	0.87932	D	0	.	13.388	0.60807	0.0:0.0:0.0:1.0	.	1551;1554;1550;1551	O00555;E9PD31;Q9NS88;E7EVF2	CAC1A_HUMAN;.;.;.	S	1550;1554;1551;1551;167	ENSP00000353362:N1550S	ENSP00000317661:N1551S	N	-	2	0	CACNA1A	13227015	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	6.206000	0.72154	1.805000	0.52779	0.524000	0.50904	AAC		0.597	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		C	13366015	T	C	13366015	3	2	696	1	0	0	0	0	1	0	0	0	2540	1725	60	3	3049	3	CACNA1A	19	13366015	Missense_Mutation	SNP	T	TCGA-KL-8327-01A-11D-2310-10	1386803	13366015	45762968	38	38600											
ZNF14	7561	bcgsc.ca	37	19	19822268	19822268	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr19:19822268A>G	ENST00000344099.3	-	4	1960	c.1822T>C	c.(1822-1824)Tct>Cct	p.S608P		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	608					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				CCAGTGTGAGACCTTTCATGA	0.418																																																0													80	78	79					19																	19822268		2203	4300	6503	SO:0001583	missense	7561			AA286756	CCDS12409.1	19p13.11	2013-01-08	2006-05-10					"Zinc fingers, C2H2-type", "-"	12924	protein-coding gene	gene with protein product		194556	"zinc finger protein 14 (KOX 6)"				Standard	NM_021030		Approved	KOX6, GIOT-4	uc002nnk.1	P17017		ENST00000344099.3:c.1822T>C	19.37:g.19822268A>G	ENSP00000340514:p.Ser608Pro		B9EGA4|Q9ULZ5	Missense_Mutation	SNP	ENST00000344099.3	37	CCDS12409.1	.	.	.	.	.	.	.	.	.	.	A	15.75	2.926842	0.52759	.	.	ENSG00000105708	ENST00000344099	T	0.08193	3.12	1.8	0.667	0.17907	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07369	0.0186	L	0.37800	1.135	0.21064	N	0.999794	P	0.48407	0.91	P	0.44772	0.46	T	0.28235	-1.0050	9	0.72032	D	0.01	.	2.241	0.04020	0.3263:0.0:0.2447:0.4291	.	608	P17017	ZNF14_HUMAN	P	608	ENSP00000340514:S608P	ENSP00000340514:S608P	S	-	1	0	ZNF14	19683268	0.007000	0.16637	0.089000	0.20774	0.983000	0.72400	1.471000	0.35365	-0.048000	0.13401	0.383000	0.25322	TCT		0.418	ZNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460775.1	NM_021030		G	19822268	A	G	19822268	3	3	696	1	0	0	0	0	1	0	0	0	17733	275	10	3	110	3	ZNF14	19	19822268	Missense_Mutation	SNP	A	TCGA-KL-8327-01A-11D-2310-10	6456253	19822268	39306715	39	38601											
LSM14A	26065	broad.mit.edu	37	19	34710315	34710315	+	Silent	SNP	T	T	G	rs201741862		TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr19:34710315T>G	ENST00000433627.5	+	7	876	c.801T>G	c.(799-801)gcT>gcG	p.A267A	LSM14A_ENST00000540746.2_Silent_p.A226A|LSM14A_ENST00000544216.3_Silent_p.A267A	NM_001114093.1	NP_001107565.1	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	267					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)	p.A267A(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					CTCCTTCAGCTCCAAGGAGAG	0.438																																																2	Substitution - coding silent(2)	endometrium(1)|kidney(1)											64	74	71					19																	34710315		2203	4300	6503	SO:0001819	synonymous_variant	26065			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.801T>G	19.37:g.34710315T>G			B4DTG6|Q76LX7|Q96AR3|Q96K73|Q96SN5|Q9UFR3	Silent	SNP	ENST00000433627.5	37	CCDS46040.1																																																																																				0.438	LSM14A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451576.3	NM_015578		G	34710315	T	G	34710315	2	3	696	1	0	0	0	0	0	0	0	1	9056	1538	54	5		5	LSM14A	19	34710315	Silent	SNP	T	TCGA-KL-8327-01A-11D-2310-10	14888047	34710315	24418668	40	38602											
SIPA1L3	23094	broad.mit.edu	37	19	38655328	38655329	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr19:38655328_38655329insC	ENST00000222345.6	+	15	4499_4500	c.3990_3991insC	c.(3991-3993)cccfs	p.P1331fs		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1331					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)	p.P1331S(1)		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)			AGGCTCCACGGCCCGCCAAGCC	0.673																																																1	Substitution - Missense(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	23094			AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.3993dupC	19.37:g.38655331_38655331dupC	ENSP00000222345:p.Pro1331fs		Q2TV87	Frame_Shift_Ins	INS	ENST00000222345.6	37	CCDS33007.1																																																																																				0.673	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		C	38655329	-	C	38655328	7	5	696	1	0	1	1	0	0	0	0	0	14337	1190	42	0	4040	0	SIPA1L3	19	38655328	Frame_Shift_Ins	INS	-	TCGA-KL-8327-01A-11D-2310-10	3945013	38655328	20473655	41	38603											
DBP	1628	hgsc.bcm.edu	37	19	49134133	49134155	+	Frame_Shift_Del	DEL	GGCGCGGTAGTGGGACAGCTCCT	GGCGCGGTAGTGGGACAGCTCCT	-			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	GGCGCGGTAGTGGGACAGCTCCT	GGCGCGGTAGTGGGACAGCTCCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr19:49134133_49134155delGGCGCGGTAGTGGGACAGCTCCT	ENST00000222122.5	-	4	1360_1382	c.917_939delAGGAGCTGTCCCACTACCGCGCC	c.(916-939)caggagctgtcccactaccgcgccfs	p.QELSHYRA306fs	DBP_ENST00000599385.1_Frame_Shift_Del_p.QELSHYRA104fs|DBP_ENST00000593500.1_Frame_Shift_Del_p.QELSHYRA104fs	NM_001352.3	NP_001343.2	Q10586	DBP_HUMAN	D site of albumin promoter (albumin D-box) binding protein	306	bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				liver development (GO:0001889)|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)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)		GGGACAGCACGGCGCGGTAGTGGGACAGCTCCTGGCGCACGGC	0.682																																																0																																										SO:0001589	frameshift_variant	1628			U06936	CCDS12728.1	19q13.33	2013-09-20			ENSG00000105516	ENSG00000105516			2697	protein-coding gene	gene with protein product		124097				1535333, 7835883	Standard	XR_243907		Approved	DABP	uc002pjx.4	Q10586	OTTHUMG00000183319	ENST00000222122.5:c.917_939delAGGAGCTGTCCCACTACCGCGCC	19.37:g.49134133_49134155delGGCGCGGTAGTGGGACAGCTCCT	ENSP00000222122:p.Gln306fs		A2I2P4	Frame_Shift_Del	DEL	ENST00000222122.5	37	CCDS12728.1																																																																																				0.682	DBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466167.1	NM_001352		-	49134155	GGCGCGGTAGTGGGACAGCTCCT	-	49134133	7	5	696	1	0	1	0	1	0	0	0	0	4258	1103	39	0	42	0	DBP	19	49134133	Frame_Shift_Del	DEL	GGCGCGGTAGTGGGACAGCTCCT	TCGA-KL-8327-01A-11D-2310-10	10478805	49134133	9994850	42	38604	299	2									
DBP	1628	bcgsc.ca	37	19	49134134	49134156	+	Frame_Shift_Del	DEL	GGCGCGGTAGTGGGACAGCTCCT	GGCGCGGTAGTGGGACAGCTCCT	-			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	GGCGCGGTAGTGGGACAGCTCCT	GGCGCGGTAGTGGGACAGCTCCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr19:49134134_49134156delGGCGCGGTAGTGGGACAGCTCCT	ENST00000222122.5	-	4	1359_1381	c.916_938delAGGAGCTGTCCCACTACCGCGCC	c.(916-939)aggagctgtcccactaccgcgcccfs	p.RSCPTTAP306fs	DBP_ENST00000599385.1_Frame_Shift_Del_p.RSCPTTAP104fs|DBP_ENST00000593500.1_Frame_Shift_Del_p.RSCPTTAP104fs	NM_001352.3	NP_001343.2	Q10586	DBP_HUMAN	D site of albumin promoter (albumin D-box) binding protein	306	bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				liver development (GO:0001889)|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)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)		GGACAGCACGGCGCGGTAGTGGGACAGCTCCTGGCGCACGGCC	0.686																																																0																																										SO:0001589	frameshift_variant	1628			U06936	CCDS12728.1	19q13.33	2013-09-20			ENSG00000105516	ENSG00000105516			2697	protein-coding gene	gene with protein product		124097				1535333, 7835883	Standard	XR_243907		Approved	DABP	uc002pjx.4	Q10586	OTTHUMG00000183319	ENST00000222122.5:c.916_938delAGGAGCTGTCCCACTACCGCGCC	19.37:g.49134134_49134156delGGCGCGGTAGTGGGACAGCTCCT	ENSP00000222122:p.Arg306fs		A2I2P4	Frame_Shift_Del	DEL	ENST00000222122.5	37	CCDS12728.1																																																																																				0.686	DBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466167.1	NM_001352		-	49134156	GGCGCGGTAGTGGGACAGCTCCT	-	49134134	7	5	696	1	0	1	0	1	0	0	0	0	4258	1203	42	0	43	0	DBP	19	49134134	Frame_Shift_Del	DEL	GGCGCGGTAGTGGGACAGCTCCT	TCGA-KL-8327-01A-11D-2310-10	1	49134134	9994849	43	38605	299	2									
SHANK1	50944	hgsc.bcm.edu;mdanderson.org	37	19	51169881	51169881	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr19:51169881G>A	ENST00000293441.1	-	22	5354	c.5336C>T	c.(5335-5337)cCt>cTt	p.P1779L	SHANK1_ENST00000359082.3_Missense_Mutation_p.P1770L|SHANK1_ENST00000391813.1_Missense_Mutation_p.P1166L|SHANK1_ENST00000391814.1_Missense_Mutation_p.P1787L|SYT3_ENST00000544769.1_Intron	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1779					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)		GGGGGTAACAGGGTCTCGGAG	0.711																																																0													5	6	6					19																	51169881		1822	3762	5584	SO:0001583	missense	50944			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.5336C>T	19.37:g.51169881G>A	ENSP00000293441:p.Pro1779Leu		A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	G	7.206	0.594517	0.13875	.	.	ENSG00000161681	ENST00000293441;ENST00000391813;ENST00000359082;ENST00000391814	T;T;T;T	0.39592	1.2;1.33;1.16;1.07	2.35	2.35	0.29111	.	0.146929	0.25944	U	0.027299	T	0.37128	0.0992	L	0.58810	1.83	0.47862	D	0.999533	B;P	0.34639	0.197;0.461	B;B	0.33339	0.024;0.162	T	0.36648	-0.9739	10	0.41790	T	0.15	.	11.7963	0.52102	0.0:0.0:1.0:0.0	.	1779;1166	Q9Y566;Q9Y566-2	SHAN1_HUMAN;.	L	1779;1166;1770;1787	ENSP00000293441:P1779L;ENSP00000375689:P1166L;ENSP00000351984:P1770L;ENSP00000375690:P1787L	ENSP00000293441:P1779L	P	-	2	0	SHANK1	55861693	0.982000	0.34865	0.990000	0.47175	0.547000	0.35210	2.567000	0.45956	1.334000	0.45468	0.195000	0.17529	CCT		0.711	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		A	51169881	G	A	51169881	3	1	696	1	0	0	0	0	1	0	0	0	14270	1000	35	2	1157	2	SHANK1	19	51169881	Missense_Mutation	SNP	G	TCGA-KL-8327-01A-11D-2310-10	2035747	51169881	7959102	44	38606											
HSPA12B	116835	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	20	3730674	3730674	+	Missense_Mutation	SNP	C	C	G			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr20:3730674C>G	ENST00000254963.2	+	11	1246	c.1101C>G	c.(1099-1101)atC>atG	p.I367M	HSPA12B_ENST00000542646.1_Missense_Mutation_p.I201M	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	367							ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						TGTGCCGCATCTTCGGCGAGG	0.682																																																0													13	13	13					20																	3730674		2194	4299	6493	SO:0001583	missense	116835			AK056712	CCDS13061.1	20p13	2011-09-02	2003-04-10	2003-04-10	ENSG00000132622	ENSG00000132622		"Heat shock proteins / HSP70"	16193	protein-coding gene	gene with protein product		610702	"chromosome 20 open reading frame 60"	C20orf60		12552099	Standard	NM_052970		Approved	dJ1009E24.2	uc002wjd.3	Q96MM6	OTTHUMG00000031755	ENST00000254963.2:c.1101C>G	20.37:g.3730674C>G	ENSP00000254963:p.Ile367Met		D3DVX7|Q2TAK3|Q9BR52	Missense_Mutation	SNP	ENST00000254963.2	37	CCDS13061.1	.	.	.	.	.	.	.	.	.	.	C	18.75	3.689871	0.68271	.	.	ENSG00000132622	ENST00000254963;ENST00000542646;ENST00000399701	T;T;T	0.09538	2.97;2.97;2.97	5.18	2.07	0.26955	.	0.049499	0.85682	D	0.000000	T	0.19127	0.0459	L	0.48174	1.505	0.46376	D	0.999015	D;D	0.64830	0.994;0.991	D;D	0.71656	0.947;0.974	T	0.02015	-1.1229	10	0.34782	T	0.22	.	6.3321	0.21276	0.4965:0.4163:0.0:0.0872	.	366;367	B7ZLP2;Q96MM6	.;HS12B_HUMAN	M	367;201;281	ENSP00000254963:I367M;ENSP00000441506:I201M;ENSP00000382608:I281M	ENSP00000254963:I367M	I	+	3	3	HSPA12B	3678674	0.031000	0.19500	1.000000	0.80357	0.981000	0.71138	-0.739000	0.04866	0.647000	0.30713	-0.279000	0.10071	ATC		0.682	HSPA12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077756.2	NM_052970		G	3730674	C	G	3730674	3	3	696	1	0	0	0	0	1	0	0	0	7407	903	32	4	1139	4	HSPA12B	20	3730674	Missense_Mutation	SNP	C	TCGA-KL-8327-01A-11D-2310-10		3730674	59294846	45	38607											
C20orf134	170487	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	20	32255643	32255643	+	Missense_Mutation	SNP	G	G	C	rs144190881	byFrequency	TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr20:32255643G>C	ENST00000330271.4	+	1	1340	c.340G>C	c.(340-342)Gtc>Ctc	p.V114L	NECAB3_ENST00000375238.4_Intron|NECAB3_ENST00000246190.6_Intron	NM_001024675.1	NP_001019846.1	Q5JWF8	ACL10_HUMAN	actin-like 10	114																	CGGGTGCTGCGTCTGCCTCAG	0.706																																																0													16	17	17					20																	32255643		2199	4290	6489	SO:0001583	missense	170487			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.340G>C	20.37:g.32255643G>C	ENSP00000329647:p.Val114Leu		B9EH76	Missense_Mutation	SNP	ENST00000330271.4	37	CCDS33463.1	.	.	.	.	.	.	.	.	.	.	G	9.743	1.165517	0.21538	.	.	ENSG00000182584	ENST00000330271	T	0.06528	3.29	5.42	-1.13	0.09775	.	0.822137	0.10138	N	0.711191	T	0.04407	0.0121	L	0.31207	0.915	0.19775	N	0.99996	B	0.11235	0.004	B	0.17979	0.02	T	0.44081	-0.9351	10	0.87932	D	0	-6.4887	1.4132	0.02295	0.3262:0.2569:0.2981:0.1189	.	114	Q5JWF8	CT134_HUMAN	L	114	ENSP00000329647:V114L	ENSP00000329647:V114L	V	+	1	0	C20orf134	31719304	0.766000	0.28496	0.000000	0.03702	0.009000	0.06853	1.458000	0.35223	-0.441000	0.07201	-0.367000	0.07326	GTC		0.706	ACTL10-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078713.1			C	32255643	G	C	32255643	3	2	696	1	0	0	0	0	1	0	0	0	2089	1145	40	4	342	4	C20orf134	20	32255643	Missense_Mutation	SNP	G	TCGA-KL-8327-01A-11D-2310-10	28524969	32255643	30769877	46	38608											
MAP1LC3A	84557	broad.mit.edu	37	20	33147658	33147658	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr20:33147658T>C	ENST00000360668.3	+	4	1083	c.322T>C	c.(322-324)Ttc>Ctc	p.F108L	MAP1LC3A_ENST00000374837.3_Missense_Mutation_p.F112L|MAP1LC3A_ENST00000397709.1_Missense_Mutation_p.F108L|MAP1LC3A_ENST00000476428.1_3'UTR			Q9H492	MLP3A_HUMAN	microtubule-associated protein 1 light chain 3 alpha	108					autophagic vacuole assembly (GO:0000045)|mitochondrion degradation (GO:0000422)	autophagic vacuole (GO:0005776)|autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|late endosome (GO:0005770)|microtubule (GO:0005874)|organelle membrane (GO:0031090)	phosphatidylethanolamine binding (GO:0008429)|phospholipid binding (GO:0005543)			cervix(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(2)	5						CGAGGACGGCTTCCTCTATAT	0.647																																																0													45	48	47					20																	33147658		2203	4300	6503	SO:0001583	missense	84557				CCDS13237.1, CCDS13238.1	20q11.22	2014-02-12			ENSG00000101460	ENSG00000101460			6838	protein-coding gene	gene with protein product		601242				8833088, 17580304	Standard	NM_032514		Approved	MAP1BLC3, MAP1ALC3, LC3, LC3A, ATG8E	uc002xaq.2	Q9H492	OTTHUMG00000032306	ENST00000360668.3:c.322T>C	20.37:g.33147658T>C	ENSP00000353886:p.Phe108Leu		E1P5P4|E1P5P5|Q9BXW5	Missense_Mutation	SNP	ENST00000360668.3	37	CCDS13238.1	.	.	.	.	.	.	.	.	.	.	T	35	5.472232	0.96274	.	.	ENSG00000101460	ENST00000374837;ENST00000360668;ENST00000397709	T;T;T	0.58652	0.32;0.32;0.32	5.57	5.57	0.84162	.	0.043530	0.85682	D	0.000000	T	0.76364	0.3977	M	0.85630	2.765	0.80722	D	1	P;B	0.42620	0.785;0.057	P;B	0.56823	0.807;0.047	T	0.79974	-0.1577	10	0.72032	D	0.01	-4.7506	15.3706	0.74560	0.0:0.0:0.0:1.0	.	108;112	Q9H492;Q9H492-2	MLP3A_HUMAN;.	L	112;108;108	ENSP00000363970:F112L;ENSP00000353886:F108L;ENSP00000380821:F108L	ENSP00000353886:F108L	F	+	1	0	MAP1LC3A	32611319	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	7.967000	0.87967	2.115000	0.64714	0.260000	0.18958	TTC		0.647	MAP1LC3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078801.2	NM_181509		C	33147658	T	C	33147658	3	2	696	1	0	0	0	0	1	0	0	0	9232	1609	56	3	392	3	MAP1LC3A	20	33147658	Missense_Mutation	SNP	T	TCGA-KL-8327-01A-11D-2310-10	892015	33147658	29877862	47	38609											
ASCC2	84164	mdanderson.org	37	22	30197985	30197985	+	Silent	SNP	G	G	A			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr22:30197985G>A	ENST00000397771.2	-	15	1743	c.1566C>T	c.(1564-1566)gaC>gaT	p.D522D	ASCC2_ENST00000542393.1_Silent_p.D446D|ASCC2_ENST00000307790.3_Silent_p.D522D			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	522					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			TCTCCCACCTGTCTAGGTTGC	0.642																																																0													25	21	23					22																	30197985		2203	4298	6501	SO:0001819	synonymous_variant	84164			AY013289	CCDS13869.1, CCDS56226.1	22q12.1	2004-07-27			ENSG00000100325	ENSG00000100325			24103	protein-coding gene	gene with protein product	"ASC 1 complex subunit P100"	614216				12077347, 9847074	Standard	NM_032204		Approved	ASC1p100, FLJ21588, DKFZp586O0223	uc003agr.3	Q9H1I8	OTTHUMG00000067658	ENST00000397771.2:c.1566C>T	22.37:g.30197985G>A			B7Z8E0|F5H6J9|Q4TT54|Q8TAZ0|Q9H711|Q9H9D6	Silent	SNP	ENST00000397771.2	37	CCDS13869.1																																																																																				0.642	ASCC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322127.1	NM_032204		A	30197985	G	A	30197985	2	1	696	1	0	0	0	0	0	0	0	1	1032	1368	48	2		2	ASCC2	22	30197985	Silent	SNP	G	TCGA-KL-8327-01A-11D-2310-10		30197985	21106581	48	38610											
NHS	4810	broad.mit.edu	37	X	17745123	17745123	+	Nonsense_Mutation	SNP	C	C	A			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chrX:17745123C>A	ENST00000380060.3	+	6	3172	c.2834C>A	c.(2833-2835)tCa>tAa	p.S945*	NHS_ENST00000398097.3_Nonsense_Mutation_p.S789*	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	966					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)					CTATCTAATTCAAGCACCGCT	0.438																																																0													108	104	105					X																	17745123		2203	4300	6503	SO:0001587	stop_gained	4810				CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.2834C>A	X.37:g.17745123C>A	ENSP00000369400:p.Ser945*		B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Nonsense_Mutation	SNP	ENST00000380060.3	37	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	C	43	10.066554	0.99329	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	.	.	.	5.93	5.93	0.95920	.	0.055012	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.5647	19.2927	0.94108	0.0:1.0:0.0:0.0	.	.	.	.	X	945;789;787	.	ENSP00000369397:S787X	S	+	2	0	NHS	17655044	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	7.818000	0.86416	2.509000	0.84616	0.538000	0.68166	TCA		0.438	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270		A	17745123	C	A	17745123	4	1	696	1	0	0	0	0	0	1	0	0	10413	838	29	4	2961	4	NHS	23	17745123	Nonsense_Mutation	SNP	C	TCGA-KL-8327-01A-11D-2310-10		17745123	137525437	49	38611											
APOO	79135	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	X	23874422	23874422	+	Silent	SNP	T	T	C			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chrX:23874422T>C	ENST00000379226.4	-	7	789	c.558A>G	c.(556-558)caA>caG	p.Q186Q	APOO_ENST00000379220.3_Silent_p.Q167Q	NM_024122.4	NP_077027.1	Q9BUR5	APOO_HUMAN	apolipoprotein O	186					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						TCCTCACCTTTTGAAAGTTCT	0.333																																																0													149	153	151					X																	23874422		2203	4300	6503	SO:0001819	synonymous_variant	79135			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.558A>G	X.37:g.23874422T>C			B2R4K9|Q9H3J9	Silent	SNP	ENST00000379226.4	37	CCDS14208.1																																																																																				0.333	APOO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056074.1	NM_024122		C	23874422	T	C	23874422	2	2	696	1	0	0	0	0	0	0	0	1	813	1838	64	3		3	APOO	23	23874422	Silent	SNP	T	TCGA-KL-8327-01A-11D-2310-10	6129299	23874422	131396138	50	38612											
ITIH5L	347365	broad.mit.edu;mdanderson.org;bcgsc.ca	37	X	54784436	54784436	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chrX:54784436C>T	ENST00000218436.6	-	8	2100	c.2071G>A	c.(2071-2073)Gga>Aga	p.G691R		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	691					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										GGGCTCTCTCCCAATGGCTCC	0.498																																																0													144	119	128					X																	54784436		2203	4300	6503	SO:0001583	missense	347365			AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"inter-alpha (globulin) inhibitor H5-like"	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.2071G>A	X.37:g.54784436C>T	ENSP00000218436:p.Gly691Arg		A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	C	0.413	-0.912511	0.02415	.	.	ENSG00000102313	ENST00000218436	T	0.02323	4.34	3.95	0.289	0.15723	.	2.233900	0.03836	U	0.269889	T	0.01835	0.0058	N	0.14661	0.345	0.09310	N	1	B	0.18310	0.027	B	0.13407	0.009	T	0.45920	-0.9228	10	0.14252	T	0.57	.	1.3401	0.02153	0.3194:0.379:0.1662:0.1354	.	691	Q6UXX5	ITH5L_HUMAN	R	691	ENSP00000218436:G691R	ENSP00000218436:G691R	G	-	1	0	ITIH5L	54801161	0.000000	0.05858	0.027000	0.17364	0.014000	0.08584	-0.070000	0.11523	0.434000	0.26340	0.597000	0.82753	GGA		0.498	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		T	54784436	C	T	54784436	3	4	696	1	0	0	0	0	1	0	0	0	7910	632	22	2	1894	2	ITIH5L	23	54784436	Missense_Mutation	SNP	C	TCGA-KL-8327-01A-11D-2310-10	30910014	54784436	100486124	51	38613											
RBMX	27316	mdanderson.org	37	X	135957699	135957699	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chrX:135957699C>T	ENST00000320676.7	-	6	741	c.587G>A	c.(586-588)aGg>aAg	p.R196K	RBMX_ENST00000565438.1_Missense_Mutation_p.R68K|RBMX_ENST00000570135.1_Missense_Mutation_p.R61K|RBMX_ENST00000431446.3_Missense_Mutation_p.G88R|RBMX_ENST00000496459.2_5'Flank|RBMX_ENST00000562646.1_Missense_Mutation_p.R196K	NM_002139.3	NP_002130.2	P38159	RBMX_HUMAN	RNA binding motif protein, X-linked	196	Necessary for the association to nascent RNAPII transcripts and nuclear localization.				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)					CAGCGGTTCCCTTCGAGGTGG	0.378																																																0													73	71	72					X																	135957699		2203	4299	6502	SO:0001583	missense	27316				CCDS14661.1, CCDS55510.1	Xq26	2013-05-23	2003-09-12		ENSG00000147274	ENSG00000147274		"RNA binding motif (RRM) containing"	9910	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein G"	300199	"RNA binding motif protein, X chromosome"			10391206, 10391207	Standard	NM_002139		Approved	RNMX, hnRNP-G, HNRNPG	uc004fae.2	P38159	OTTHUMG00000022517	ENST00000320676.7:c.587G>A	X.37:g.135957699C>T	ENSP00000359645:p.Arg196Lys		B4E3U4|D3DWH0|E9PG86|Q5JQ67|Q8N8Y7|Q969R3	Missense_Mutation	SNP	ENST00000320676.7	37	CCDS14661.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	22.5|22.5	4.293036|4.293036	0.80914|0.80914	.|.	.|.	ENSG00000147274|ENSG00000147274	ENST00000431446|ENST00000320676;ENST00000449161	T|T	0.05925|0.77877	3.37|-1.13	5.6|5.6	5.6|5.6	0.85130|0.85130	.|RBM1CTR (1);	.|0.000000	.|0.85682	.|U	.|0.000000	D|D	0.88336|0.88336	0.6409|0.6409	.|.	.|.	.|.	0.58432|0.58432	D|D	0.999996|0.999996	B|D;D	0.23128|0.76494	0.08|0.999;0.979	B|D;D	0.12837|0.74023	0.008|0.976;0.982	D|D	0.88142|0.88142	0.2845|0.2845	7|8	.|.	.|.	.|.	.|.	18.8827|18.8827	0.92362|0.92362	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	88|196;183	B4E3U4|P38159;Q8N8Y7	.|HNRPG_HUMAN;.	R|K	88|196;183	ENSP00000411989:G88R|ENSP00000359645:R196K	.|.	G|R	-|-	1|2	0|0	RBMX|RBMX	135785365|135785365	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.480000|0.480000	0.33159|0.33159	7.445000|7.445000	0.80570|0.80570	2.493000|2.493000	0.84123|0.84123	0.600000|0.600000	0.82982|0.82982	GGG|AGG		0.378	RBMX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058507.1	NM_002139		T	135957699	C	T	135957699	3	4	696	1	0	0	0	0	1	0	0	0	13157	681	24	2	659	2	RBMX	23	135957699	Missense_Mutation	SNP	C	TCGA-KL-8327-01A-11D-2310-10	81173263	135957699	19312861	52	38614											
ZBTB17	7709	broad.mit.edu	37	1	16268583	16268583	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr1:16268583C>T	ENST00000375743.4	-	16	2525	c.2293G>A	c.(2293-2295)Gcc>Acc	p.A765T	ZBTB17_ENST00000375733.2_Missense_Mutation_p.A772T|ZBTB17_ENST00000537142.1_Missense_Mutation_p.A683T	NM_003443.2	NP_003434.2	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	765	Interaction with HCFC1.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|ectoderm development (GO:0007398)|endoplasmic reticulum unfolded protein response (GO:0030968)|gastrulation with mouth forming second (GO:0001702)|negative regulation of cell cycle (GO:0045786)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		ACCTGCCCGGCAGGCCACGTG	0.657																																																0													56	52	53					1																	16268583		2203	4300	6503	SO:0001583	missense	7709			U20647	CCDS165.1, CCDS55576.1, CCDS72712.1	1p36.13	2013-01-08	2004-07-16	2004-07-16	ENSG00000116809	ENSG00000116809		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	12936	protein-coding gene	gene with protein product		604084	"zinc finger protein 151 (pHZ-67)", "zinc finger protein 60"	ZNF151, ZNF60			Standard	NM_003443		Approved	MIZ1, pHZ-67	uc001axl.4	Q13105	OTTHUMG00000009377	ENST00000375743.4:c.2293G>A	1.37:g.16268583C>T	ENSP00000364895:p.Ala765Thr		A0AV07|B4DXB4|B7ZLQ9|F5H411|Q15932|Q5JYB2|Q9NUC9	Missense_Mutation	SNP	ENST00000375743.4	37	CCDS165.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.427|8.427	0.847741|0.847741	0.17034|0.17034	.|.	.|.	ENSG00000116809|ENSG00000116809	ENST00000375743;ENST00000375733;ENST00000444654;ENST00000537142|ENST00000440560	T;T;T|.	0.13307|.	2.6;2.61;2.78|.	4.43|4.43	4.43|4.43	0.53597|0.53597	.|.	0.070862|.	0.56097|.	D|.	0.000028|.	T|T	0.31327|0.31327	0.0793|0.0793	N|N	0.04880|0.04880	-0.145|-0.145	0.80722|0.80722	D|D	1|1	P;B;B|.	0.37731|.	0.607;0.1;0.004|.	B;B;B|.	0.32465|.	0.146;0.038;0.005|.	T|T	0.12243|0.12243	-1.0555|-1.0555	10|5	0.11794|.	T|.	0.64|.	.|.	8.3812|8.3812	0.32472|0.32472	0.0:0.8123:0.0:0.1877|0.0:0.8123:0.0:0.1877	.|.	772;683;765|.	Q13105-2;F5H411;Q13105|.	.;.;ZBT17_HUMAN|.	T|Y	765;772;684;683|171	ENSP00000364895:A765T;ENSP00000364885:A772T;ENSP00000438529:A683T|.	ENSP00000364885:A772T|.	A|C	-|-	1|2	0|0	ZBTB17|ZBTB17	16141170|16141170	0.025000|0.025000	0.19082|0.19082	0.984000|0.984000	0.44739|0.44739	0.435000|0.435000	0.31806|0.31806	0.600000|0.600000	0.24104|0.24104	2.173000|2.173000	0.68751|0.68751	0.563000|0.563000	0.77884|0.77884	GCC|TGC		0.657	ZBTB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025998.1	NM_003443		T	16268583	C	T	16268583	3	4	697	1	0	0	0	0	1	0	0	0	17532	710	25	2	122	2	ZBTB17	1	16268583	Missense_Mutation	SNP	C	TCGA-KL-8328-01A-11D-2310-10		16268583	232982038	1	38615											
PEF1	553115	broad.mit.edu	37	1	32101118	32101118	+	Silent	SNP	G	G	A			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr1:32101118G>A	ENST00000373703.4	-	2	52	c.30C>T	c.(28-30)tgC>tgT	p.C10C	PEF1_ENST00000492061.1_5'UTR|PEF1_ENST00000440872.2_Silent_p.C10C	NM_012392.3	NP_036524.1	Q9UBV8	PEF1_HUMAN	penta-EF-hand domain containing 1	10					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)		CAGCTCCTGGGCAGCCCTGCA	0.562																																																0													18	20	19					1																	32101118		2189	4282	6471	SO:0001819	synonymous_variant	553115				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.30C>T	1.37:g.32101118G>A				Silent	SNP	ENST00000373703.4	37	CCDS345.1																																																																																				0.562	PEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011046.1	NM_012392		A	32101118	G	A	32101118	2	1	697	1	0	0	0	0	0	0	0	1	11720	1195	42	2		2	PEF1	1	32101118	Silent	SNP	G	TCGA-KL-8328-01A-11D-2310-10	15832535	32101118	217149503	2	38616											
TAL1	6886	hgsc.bcm.edu	37	1	47685487	47685487	+	Missense_Mutation	SNP	G	G	T			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr1:47685487G>T	ENST00000294339.3	-	4	1477	c.901C>A	c.(901-903)Ccg>Acg	p.P301T	TAL1_ENST00000371884.2_Missense_Mutation_p.P301T|TAL1_ENST00000459729.1_5'UTR|TAL1_ENST00000371883.3_Missense_Mutation_p.P303T	NM_003189.2	NP_003180.1	P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	301					angiogenesis (GO:0001525)|astrocyte fate commitment (GO:0060018)|basophil differentiation (GO:0030221)|cell fate commitment (GO:0045165)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|hemangioblast cell differentiation (GO:0060217)|hematopoietic stem cell differentiation (GO:0060218)|hemopoiesis (GO:0030097)|locomotory behavior (GO:0007626)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|platelet formation (GO:0030220)|positive regulation of cell division (GO:0051781)|positive regulation of chromatin assembly or disassembly (GO:0045799)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell proliferation (GO:0042127)|regulation of mast cell differentiation (GO:0060375)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord association neuron differentiation (GO:0021527)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|E-box binding (GO:0070888)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|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 factor binding (GO:0001085)|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)			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						TAGCTGTCCGGGCTGGCTGCC	0.711			T	"TRD@, SIL"	lymphoblastic leukemia/biphasic																																		Dom	yes		1	1p32	6886	T-cell acute lymphocytic leukemia 1 (SCL)		L	0													24	29	27					1																	47685487		2189	4280	6469	SO:0001583	missense	6886			M29038	CCDS547.1	1p32	2013-05-21	2001-12-04		ENSG00000162367	ENSG00000162367		"Basic helix-loop-helix proteins"	11556	protein-coding gene	gene with protein product		187040		TCL5		2740341	Standard	NM_001287347		Approved	SCL, bHLHa17	uc009vyq.2	P17542	OTTHUMG00000007847	ENST00000294339.3:c.901C>A	1.37:g.47685487G>T	ENSP00000294339:p.Pro301Thr		D3DQ24	Missense_Mutation	SNP	ENST00000294339.3	37	CCDS547.1	.	.	.	.	.	.	.	.	.	.	G	19.08	3.758806	0.69763	.	.	ENSG00000162367	ENST00000371884;ENST00000371883;ENST00000294339	D;D;D	0.98633	-5.03;-5.04;-5.03	5.05	4.07	0.47477	.	0.000000	0.85682	D	0.000000	D	0.96420	0.8832	L	0.34521	1.04	0.58432	D	0.999998	P	0.48503	0.911	B	0.42282	0.382	D	0.96746	0.9550	10	0.66056	D	0.02	.	14.214	0.65781	0.0:0.0:0.85:0.15	.	301	P17542	TAL1_HUMAN	T	301;303;301	ENSP00000360951:P301T;ENSP00000360950:P303T;ENSP00000294339:P301T	ENSP00000294339:P301T	P	-	1	0	TAL1	47458074	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	7.404000	0.79996	2.363000	0.80096	0.478000	0.44815	CCG		0.711	TAL1-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021640.1	NM_003189		T	47685487	G	T	47685487	3	4	697	1	0	0	0	0	1	0	0	0	15546	1232	43	4	98	4	TAL1	1	47685487	Missense_Mutation	SNP	G	TCGA-KL-8328-01A-11D-2310-10	15584369	47685487	201565134	3	38617											
NFIA	4774	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	1	61869880	61869880	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr1:61869880G>A	ENST00000403491.3	+	8	1664	c.1180G>A	c.(1180-1182)Gag>Aag	p.E394K	NFIA_ENST00000357977.5_Missense_Mutation_p.E42K|NFIA_ENST00000371184.2_Missense_Mutation_p.E265K|NFIA_ENST00000407417.3_Missense_Mutation_p.E386K|NFIA_ENST00000371191.1_Missense_Mutation_p.E417K|NFIA_ENST00000371189.4_Missense_Mutation_p.E439K|NFIA_ENST00000371185.2_Missense_Mutation_p.E372K|NFIA_ENST00000479364.1_3'UTR|NFIA_ENST00000485903.2_Missense_Mutation_p.E351K|NFIA_ENST00000371187.3_Missense_Mutation_p.E394K	NM_001134673.3|NM_005595.4	NP_001128145.1|NP_005586.1	Q12857	NFIA_HUMAN	nuclear factor I/A	394					DNA replication (GO:0006260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to organic cyclic compound (GO:0014070)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)		NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						TCACCCTCAGGAGACGCTGAA	0.512																																																0													107	96	100					1																	61869880		2203	4300	6503	SO:0001583	missense	4774			U07809	CCDS615.1, CCDS44156.1, CCDS53322.1, CCDS53321.1	1p31.3-p31.2	2008-02-05			ENSG00000162599	ENSG00000162599			7784	protein-coding gene	gene with protein product		600727				7590749	Standard	NM_001134673		Approved	NFI-L, KIAA1439	uc010oos.2	Q12857	OTTHUMG00000008618	ENST00000403491.3:c.1180G>A	1.37:g.61869880G>A	ENSP00000384523:p.Glu394Lys		B4DRJ3|B4DS53|F5H0R0|F8W8W3|Q8TA97|Q9H3X9|Q9P2A9	Missense_Mutation	SNP	ENST00000403491.3	37	CCDS44156.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.967262	0.74131	.	.	ENSG00000162599	ENST00000371191;ENST00000407417;ENST00000371189;ENST00000403491;ENST00000485903;ENST00000371185;ENST00000371184;ENST00000371187	T;T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73;0.73	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.42607	0.1210	N	0.19112	0.55	0.80722	D	1	D;P;B;P;B	0.54964	0.969;0.884;0.022;0.884;0.017	P;P;B;P;B	0.47673	0.554;0.482;0.015;0.482;0.008	T	0.14559	-1.0468	10	0.25751	T	0.34	-14.2049	20.0274	0.97527	0.0:0.0:1.0:0.0	.	439;417;372;394;394	F8W8W3;B1AKN8;B1AKN5;Q12857;Q12857-2	.;.;.;NFIA_HUMAN;.	K	417;386;439;394;394;372;265;351	ENSP00000360233:E417K;ENSP00000384680:E386K;ENSP00000360231:E439K;ENSP00000384523:E394K;ENSP00000360227:E372K;ENSP00000360226:E265K	ENSP00000360226:E265K	E	+	1	0	NFIA	61642468	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.379000	0.97198	2.798000	0.96311	0.557000	0.71058	GAG		0.512	NFIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023799.3	NM_005595		A	61869880	G	A	61869880	3	1	697	1	0	0	0	0	1	0	0	0	10372	1175	41	2	1356	2	NFIA	1	61869880	Missense_Mutation	SNP	G	TCGA-KL-8328-01A-11D-2310-10	14184393	61869880	187380741	4	38618											
NBPF10	100132406	mdanderson.org	37	1	145304613	145304613	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr1:145304613T>C	ENST00000369339.3	+	7	986	c.733T>C	c.(733-735)Tct>Cct	p.S245P	NBPF10_ENST00000342960.5_Missense_Mutation_p.S516P|NBPF10_ENST00000369338.1_Missense_Mutation_p.S245P|RP11-458D21.5_ENST00000468030.1_3'UTR			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	516	NBPF 1. {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)		TGGCTCATCCTCTCATGTTGA	0.428																																																0																																										SO:0001583	missense	100132406			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.733T>C	1.37:g.145304613T>C	ENSP00000358345:p.Ser245Pro		Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369339.3	37		.	.	.	.	.	.	.	.	.	.	.	7.591	0.670689	0.14776	.	.	ENSG00000163386	ENST00000448873;ENST00000369338;ENST00000369334;ENST00000342960;ENST00000449032	T;T	0.03607	3.87;3.91	0.745	0.745	0.18359	.	.	.	.	.	T	0.03695	0.0105	L	0.50333	1.59	0.09310	N	1	P;D;D;D	0.64830	0.676;0.994;0.962;0.985	B;D;P;P	0.64144	0.307;0.922;0.756;0.783	T	0.39542	-0.9609	9	0.72032	D	0.01	.	3.8102	0.08793	0.0:0.0:0.0:1.0	.	191;481;447;245	Q4VC10;Q3BBV7;Q5U227;A8MQ30	.;.;.;.	P	441;245;245;516;5	ENSP00000358344:S245P;ENSP00000345684:S516P	ENSP00000345684:S516P	S	+	1	0	NBPF10	144015970	0.001000	0.12720	0.003000	0.11579	0.041000	0.13682	1.237000	0.32695	0.571000	0.29365	0.136000	0.15936	TCT		0.428	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		C	145304613	T	C	145304613	3	2	697	1	0	0	0	0	1	0	0	0	10195	1551	54	3	1584	3	NBPF10	1	145304613	Missense_Mutation	SNP	T	TCGA-KL-8328-01A-11D-2310-10	83434733	145304613	103946008	5	38619											
IQGAP3	128239	ucsc.edu;bcgsc.ca	37	1	156531643	156531643	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr1:156531643T>C	ENST00000361170.2	-	10	1038	c.1028A>G	c.(1027-1029)gAg>gGg	p.E343G		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	343					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)					TGCCTTCTGCTCTCTGTCTGA	0.552																																																0													99	78	85					1																	156531643		2203	4300	6503	SO:0001583	missense	128239			AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.1028A>G	1.37:g.156531643T>C	ENSP00000354451:p.Glu343Gly		Q5T3H8	Missense_Mutation	SNP	ENST00000361170.2	37	CCDS1144.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.946957	0.73672	.	.	ENSG00000183856	ENST00000361170	T	0.06449	3.3	5.41	5.41	0.78517	.	0.060400	0.64402	D	0.000004	T	0.06917	0.0176	M	0.69248	2.105	0.51233	D	0.999918	P	0.49090	0.919	P	0.45343	0.477	T	0.04635	-1.0937	10	0.62326	D	0.03	-28.6821	14.2677	0.66129	0.0:0.0:0.0:1.0	.	343	Q86VI3	IQGA3_HUMAN	G	343	ENSP00000354451:E343G	ENSP00000354451:E343G	E	-	2	0	IQGAP3	154798267	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	7.845000	0.86875	2.059000	0.61396	0.459000	0.35465	GAG		0.552	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229		C	156531643	T	C	156531643	3	2	697	1	0	0	0	0	1	0	0	0	7818	1551	54	3	3983	3	IQGAP3	1	156531643	Missense_Mutation	SNP	T	TCGA-KL-8328-01A-11D-2310-10	11227030	156531643	92718978	6	38620											
RASAL2	9462	bcgsc.ca	37	1	178426034	178426034	+	Splice_Site	SNP	G	G	T			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr1:178426034G>T	ENST00000462775.1	+	11	2092	c.1967G>T	c.(1966-1968)aGt>aTt	p.S656I	RASAL2_ENST00000448150.3_Splice_Site_p.S786I|RASAL2_ENST00000367649.3_Splice_Site_p.S797I	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	656					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						CCCACTGACAGGTATGAAAGA	0.388																																																0													61	64	63					1																	178426034		2203	4300	6503	SO:0001630	splice_region_variant	9462			AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"Pleckstrin homology (PH) domain containing"	9874	protein-coding gene	gene with protein product	"Ras GTPase activating protein-like", "Ras protein activator like 1"	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.1967+1G>T	1.37:g.178426034G>T			F8W755|O95174|Q2TB22|Q5TFU9	Missense_Mutation	SNP	ENST00000462775.1	37	CCDS1322.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.11|18.11	3.551036|3.551036	0.65311|0.65311	.|.	.|.	ENSG00000075391|ENSG00000075391	ENST00000433130|ENST00000448150;ENST00000367649;ENST00000462775	.|T;T;T	.|0.10477	.|2.87;2.87;2.87	5.26|5.26	5.26|5.26	0.73747|0.73747	.|.	.|0.110656	.|0.40144	.|N	.|0.001179	T|T	0.12944|0.12944	0.0314|0.0314	N|N	0.25485|0.25485	0.75|0.75	0.80722|0.80722	D|D	1|1	.|P;P;P	.|0.50528	.|0.57;0.57;0.936	.|P;B;B	.|0.45577	.|0.486;0.292;0.282	T|T	0.02009|0.02009	-1.1230|-1.1230	5|10	.|0.56958	.|D	.|0.05	.|.	18.8667|18.8667	0.92294|0.92294	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|786;656;797	.|B1AKC7;Q9UJF2;F8W755	.|.;NGAP_HUMAN;.	H|I	206|786;797;656	.|ENSP00000407768:S786I;ENSP00000356621:S797I;ENSP00000420558:S656I	.|ENSP00000356621:S797I	Q|S	+|+	3|2	2|0	RASAL2|RASAL2	176692657|176692657	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.024000|9.024000	0.93689|0.93689	2.438000|2.438000	0.82558|0.82558	0.655000|0.655000	0.94253|0.94253	CAG|AGT		0.388	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	NM_170692	Missense_Mutation	T	178426034	G	T	178426034	5	4	697	1	0	0	0	0	0	0	1	0	13070	1014	35	4	2478	4	RASAL2	1	178426034	Splice_Site	SNP	G	TCGA-KL-8328-01A-11D-2310-10	21894391	178426034	70824587	7	38621											
RBBP5	5929	bcgsc.ca	37	1	205070729	205070729	+	Splice_Site	SNP	T	T	C			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr1:205070729T>C	ENST00000264515.6	-	6	772	c.631A>G	c.(631-633)Agt>Ggt	p.S211G	RBBP5_ENST00000367164.1_Splice_Site_p.S211G	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	211					cellular response to DNA damage stimulus (GO:0006974)|histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	methylated histone binding (GO:0035064)|transcription regulatory region DNA binding (GO:0044212)			cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			CTCACTCACCTCCCCTTCCGG	0.383																																																0													194	192	192					1																	205070729		2203	4300	6503	SO:0001630	splice_region_variant	5929			BC053856	CCDS30983.1, CCDS53463.1	1q32	2013-01-10	2001-11-28		ENSG00000117222	ENSG00000117222		"WD repeat domain containing"	9888	protein-coding gene	gene with protein product	"SWD1, Set1c WD40 repeat protein, homolog (S. cerevisiae)"	600697	"retinoblastoma-binding protein 5"			7558034	Standard	NM_005057		Approved	RBQ3, SWD1	uc001hbu.2	Q15291	OTTHUMG00000037104	ENST00000264515.6:c.632+1A>G	1.37:g.205070729T>C			A8K272|Q7Z6D8|Q8NDZ7	Missense_Mutation	SNP	ENST00000264515.6	37	CCDS30983.1	.	.	.	.	.	.	.	.	.	.	T	16.53	3.149489	0.57151	.	.	ENSG00000117222	ENST00000264515;ENST00000367164	T;T	0.19105	2.17;2.17	5.83	5.83	0.93111	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.24005	0.0581	L	0.50333	1.59	0.80722	D	1	B;B;B;B	0.15141	0.005;0.007;0.007;0.012	B;B;B;B	0.16722	0.016;0.013;0.009;0.013	T	0.01661	-1.1301	10	0.49607	T	0.09	.	15.902	0.79384	0.0:0.0:0.0:1.0	.	84;246;211;211	B4DLF8;B4DMM7;Q15291-2;Q15291	.;.;.;RBBP5_HUMAN	G	211	ENSP00000264515:S211G;ENSP00000356132:S211G	ENSP00000264515:S211G	S	-	1	0	RBBP5	203337352	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.920000	0.87521	2.238000	0.73509	0.477000	0.44152	AGT		0.383	RBBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090077.1	NM_005057	Missense_Mutation	C	205070729	T	C	205070729	5	2	697	1	0	0	0	0	0	0	1	0	13108	1565	54	3	1021	3	RBBP5	1	205070729	Splice_Site	SNP	T	TCGA-KL-8328-01A-11D-2310-10	26644695	205070729	44179892	8	38622											
C2orf43	60526	bcgsc.ca	37	2	20886772	20886772	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr2:20886772T>C	ENST00000237822.3	-	7	948	c.869A>G	c.(868-870)gAc>gGc	p.D290G	C2orf43_ENST00000541941.1_Missense_Mutation_p.D160G|C2orf43_ENST00000403006.2_Missense_Mutation_p.D160G|C2orf43_ENST00000381090.3_Missense_Mutation_p.D290G|C2orf43_ENST00000435420.2_Missense_Mutation_p.D242G|C2orf43_ENST00000440866.2_3'UTR	NM_001282721.1|NM_021925.2	NP_001269650.1|NP_068744.1	Q9H6V9	CB043_HUMAN	chromosome 2 open reading frame 43	290										endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGTCGAATGTCTCCTTCTGG	0.383																																																0													133	122	125					2																	20886772		2203	4300	6503	SO:0001583	missense	60526			AK025473	CCDS1702.1, CCDS62864.1, CCDS74488.1, CCDS74489.1	2p24.1	2014-02-07			ENSG00000118961	ENSG00000118961			26145	protein-coding gene	gene with protein product		613570				17135363, 24357060	Standard	NM_001282723		Approved	FLJ21820	uc002rec.3	Q9H6V9	OTTHUMG00000122097	ENST00000237822.3:c.869A>G	2.37:g.20886772T>C	ENSP00000237822:p.Asp290Gly		B7ZA47|B7ZAJ5|D6W530|E7ESN0|Q53T37|Q53T58	Missense_Mutation	SNP	ENST00000237822.3	37	CCDS1702.1	.	.	.	.	.	.	.	.	.	.	T	29.2	4.981877	0.93044	.	.	ENSG00000118961	ENST00000403006;ENST00000381090;ENST00000237822;ENST00000435420;ENST00000541941	T;T;T	0.44881	0.91;1.54;0.91	6.08	6.08	0.98989	.	0.382752	0.28766	N	0.014219	T	0.57403	0.2051	L	0.58669	1.825	0.80722	D	1	D;D;P;P	0.89917	0.992;1.0;0.67;0.619	P;D;B;B	0.64506	0.85;0.926;0.232;0.178	T	0.51325	-0.8720	10	0.21540	T	0.41	-22.398	15.2149	0.73258	0.0:0.0:0.0:1.0	.	248;242;290;290	B4DS38;B7ZAJ5;Q9H6V9;B5MDU6	.;.;CB043_HUMAN;.	G	160;290;290;242;160	ENSP00000384267:D160G;ENSP00000388635:D242G;ENSP00000440570:D160G	ENSP00000237822:D290G	D	-	2	0	C2orf43	20750253	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.604000	0.67626	2.333000	0.79357	0.533000	0.62120	GAC		0.383	C2orf43-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242861.1	NM_021925		C	20886772	T	C	20886772	3	2	697	1	0	0	0	0	1	0	0	0	2169	1667	58	3	112	3	C2orf43	2	20886772	Missense_Mutation	SNP	T	TCGA-KL-8328-01A-11D-2310-10		20886772	222312601	9	38623											
MSH6	2956	mdanderson.org	37	2	48010558	48010558	+	Silent	SNP	C	C	A	rs1042820	byFrequency	TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr2:48010558C>A	ENST00000234420.5	+	1	338	c.186C>A	c.(184-186)cgC>cgA	p.R62R	MSH6_ENST00000540021.1_Silent_p.R62R|RNU6-688P_ENST00000516063.1_RNA|MSH6_ENST00000538136.1_5'Flank	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	62					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CCTTGGCGCGCTCCGCGTCAC	0.756			"Mis, N, F, S"		colorectal	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				C|||	346	0.0690895	0.0204	0.1138	5008	,	,		8411	0.0		0.175	False		,,,				2504	0.0654					yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	mutS homolog 6 (E. coli)		E	2	Whole gene deletion(2)	haematopoietic_and_lymphoid_tissue(2)						C		157,3307		7,143,1582	3	4	3	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	186	1.4	0	2	dbSNP_86	3	1075,6023		89,897,2563	no	coding-synonymous	MSH6	NM_000179.2		96,1040,4145	AA,AC,CC		15.1451,4.5323,11.6645		62/1361	48010558	1232,9330	1732	3549	5281	SO:0001819	synonymous_variant	2956	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	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"mutS (E. coli) homolog 6", "mutS homolog 6 (E. coli)"	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.186C>A	2.37:g.48010558C>A			B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Silent	SNP	ENST00000234420.5	37	CCDS1836.1																																																																																				0.756	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179		A	48010558	C	A	48010558	2	1	697	1	0	0	0	0	0	0	0	1	9876	784	28	4		4	MSH6	2	48010558	Silent	SNP	C	TCGA-KL-8328-01A-11D-2310-10	27123786	48010558	195188815	10	38624											
EXOC6B	23233	ucsc.edu;bcgsc.ca	37	2	72725650	72725650	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr2:72725650C>T	ENST00000272427.6	-	13	1400	c.1270G>A	c.(1270-1272)Gac>Aac	p.D424N	EXOC6B_ENST00000410104.1_Missense_Mutation_p.D424N	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	424					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)		p.D424H(1)		breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						AACAGCATGTCAAAAAGCTGA	0.338																																																1	Substitution - Missense(1)	NS(1)											87	78	81					2																	72725650		1821	4093	5914	SO:0001583	missense	23233			AB023136	CCDS46333.1	2p13.2	2013-01-22	2006-11-07	2006-11-07	ENSG00000144036	ENSG00000144036			17085	protein-coding gene	gene with protein product		607880	"SEC15-like 2 (S. cerevisiae)", "SEC15 homolog B (S. cerevisiae)"	SEC15L2, SEC15B		10231032, 11406615	Standard	NM_015189		Approved	KIAA0919	uc010fep.3	Q9Y2D4	OTTHUMG00000152723	ENST00000272427.6:c.1270G>A	2.37:g.72725650C>T	ENSP00000272427:p.Asp424Asn		B8ZZY3	Missense_Mutation	SNP	ENST00000272427.6	37	CCDS46333.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.957160	0.92726	.	.	ENSG00000144036	ENST00000272427;ENST00000410104;ENST00000290144	T;T	0.30714	1.52;1.52	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.49338	0.1551	L	0.54323	1.7	0.80722	D	1	D;P	0.63880	0.993;0.92	D;P	0.70935	0.971;0.73	T	0.25082	-1.0142	10	0.31617	T	0.26	.	16.1342	0.81471	0.0:1.0:0.0:0.0	.	424;424	Q9Y2D4;Q9Y2D4-2	EXC6B_HUMAN;.	N	424	ENSP00000272427:D424N;ENSP00000386698:D424N	ENSP00000272427:D424N	D	-	1	0	EXOC6B	72579158	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.434000	0.80377	2.693000	0.91896	0.650000	0.86243	GAC		0.338	EXOC6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327558.1	XM_039570		T	72725650	C	T	72725650	3	4	697	1	0	0	0	0	1	0	0	0	5311	826	29	2	1205	2	EXOC6B	2	72725650	Missense_Mutation	SNP	C	TCGA-KL-8328-01A-11D-2310-10	24715092	72725650	170473723	11	38625											
IL1RL1	9173	ucsc.edu	37	2	102964403	102964403	+	Splice_Site	SNP	A	A	G			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr2:102964403A>G	ENST00000233954.1	+	9	1241		c.e9-1			NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 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						TCTTTTGAATAGTTGATCATC	0.313																																																0													74	72	72					2																	102964403		2203	4300	6503	SO:0001630	splice_region_variant	9173			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.971-1A>G	2.37:g.102964403A>G			A8K6B3|B4E0I3|Q53TU7|Q8NEJ3|Q9ULV7|Q9UQ44	Splice_Site	SNP	ENST00000233954.1	37	CCDS2057.1	.	.	.	.	.	.	.	.	.	.	a	13.35	2.212003	0.39102	.	.	ENSG00000115602	ENST00000233954	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3356	0.60516	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IL1RL1	102330835	1.000000	0.71417	0.996000	0.52242	0.375000	0.29983	4.979000	0.63806	2.231000	0.72958	0.455000	0.32223	.		0.313	IL1RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253296.1	NM_016232	Intron	G	102964403	A	G	102964403	5	3	697	1	0	0	0	0	0	0	1	0	7665	434	15	3	1016	3	IL1RL1	2	102964403	Splice_Site	SNP	A	TCGA-KL-8328-01A-11D-2310-10	30238753	102964403	140234970	12	38626											
MBD5	55777	broad.mit.edu;mdanderson.org	37	2	149226187	149226187	+	Silent	SNP	G	G	A			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr2:149226187G>A	ENST00000407073.1	+	9	1672	c.675G>A	c.(673-675)gcG>gcA	p.A225A	MBD5_ENST00000404807.1_Silent_p.A225A	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	225					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)		CCAGCCCAGCGTCATCAGGTT	0.512																																																0													97	101	100					2																	149226187		2203	4300	6503	SO:0001819	synonymous_variant	55777			AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.675G>A	2.37:g.149226187G>A			A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Silent	SNP	ENST00000407073.1	37	CCDS33302.1																																																																																				0.512	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2			A	149226187	G	A	149226187	2	1	697	1	0	0	0	0	0	0	0	1	9349	1132	40	1		1	MBD5	2	149226187	Silent	SNP	G	TCGA-KL-8328-01A-11D-2310-10	46261784	149226187	93973186	13	38627											
XIRP2	129446	broad.mit.edu	37	2	168100984	168100984	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr2:168100984C>T	ENST00000409195.1	+	9	3171	c.3082C>T	c.(3082-3084)Cag>Tag	p.Q1028*	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Nonsense_Mutation_p.Q1028*|XIRP2_ENST00000409273.1_Nonsense_Mutation_p.Q806*|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	853					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GCCCATTGACCAGTTTGATGA	0.363																																																0													62	58	59					2																	168100984		1836	4084	5920	SO:0001587	stop_gained	129446			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.3082C>T	2.37:g.168100984C>T	ENSP00000386840:p.Gln1028*		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Nonsense_Mutation	SNP	ENST00000409195.1	37	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	41	8.956275	0.99016	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	.	.	.	6.08	6.08	0.98989	.	0.109913	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-10.9057	19.4349	0.94788	0.0:1.0:0.0:0.0	.	.	.	.	X	1028;1028;806	.	ENSP00000295237:Q1028X	Q	+	1	0	XIRP2	167809230	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.088000	0.50175	2.894000	0.99253	0.655000	0.94253	CAG		0.363	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		T	168100984	C	T	168100984	4	4	697	1	0	0	0	0	0	1	0	0	17435	595	21	2	3112	2	XIRP2	2	168100984	Nonsense_Mutation	SNP	C	TCGA-KL-8328-01A-11D-2310-10	18874797	168100984	75098389	14	38628											
LRP2	4036	hgsc.bcm.edu;ucsc.edu	37	2	170129474	170129474	+	Silent	SNP	G	G	A	rs145709922	byFrequency	TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr2:170129474G>A	ENST00000263816.3	-	15	2364	c.2079C>T	c.(2077-2079)ttC>ttT	p.F693F	LRP2_ENST00000443831.1_Silent_p.F624F	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	693	EGF-like 3. {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)"	GTTGGAAGCCGAATGTGCACT	0.488													G|||	2	0.000399361	0.0	0.0014	5008	,	,		20591	0.0		0.001	False		,,,				2504	0.0															0								G		4,4402	8.1+/-20.4	0,4,2199	249	233	239		2079	-11	0	2	dbSNP_134	239	35,8565	24.6+/-71.5	0,35,4265	no	coding-synonymous	LRP2	NM_004525.2		0,39,6464	AA,AG,GG		0.407,0.0908,0.2999		693/4656	170129474	39,12967	2203	4300	6503	SO:0001819	synonymous_variant	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.2079C>T	2.37:g.170129474G>A			O00711|Q16215	Silent	SNP	ENST00000263816.3	37	CCDS2232.1																																																																																				0.488	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		A	170129474	G	A	170129474	2	1	697	1	0	0	0	0	0	0	0	1	8958	1049	37	1		1	LRP2	2	170129474	Silent	SNP	G	TCGA-KL-8328-01A-11D-2310-10	2028490	170129474	73069899	15	38629											
ABCA12	26154	ucsc.edu	37	2	215797365	215797365	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr2:215797365T>C	ENST00000272895.7	-	53	8000	c.7781A>G	c.(7780-7782)gAg>gGg	p.E2594G	ABCA12_ENST00000389661.4_Missense_Mutation_p.E2276G|AC072062.1_ENST00000607412.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2594					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)		GTGTTAAGACTCCATCTGGTC	0.418																																					Ovarian(66;664 1488 5121 34295)											0													111	105	107					2																	215797365		2203	4300	6503	SO:0001583	missense	26154			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.7781A>G	2.37:g.215797365T>C	ENSP00000272895:p.Glu2594Gly		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	T	14.33	2.503623	0.44558	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.89746	-2.56;-2.53	5.8	5.8	0.92144	.	1.521370	0.04281	N	0.343875	D	0.85159	0.5633	N	0.24115	0.695	0.80722	D	1	B;B	0.30361	0.039;0.277	B;B	0.24394	0.024;0.053	T	0.64807	-0.6320	10	0.72032	D	0.01	.	15.1201	0.72434	0.0:0.0:0.0:1.0	.	2594;2276	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	G	2594;2276	ENSP00000272895:E2594G;ENSP00000374312:E2276G	ENSP00000272895:E2594G	E	-	2	0	ABCA12	215505610	0.024000	0.19004	0.003000	0.11579	0.966000	0.64601	2.645000	0.46621	2.214000	0.71695	0.455000	0.32223	GAG		0.418	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		C	215797365	T	C	215797365	3	2	697	1	0	0	0	0	1	0	0	0	30	1551	54	3	10	3	ABCA12	2	215797365	Missense_Mutation	SNP	T	TCGA-KL-8328-01A-11D-2310-10	45667891	215797365	27402008	16	38630											
KAT2B	8850	mdanderson.org	37	3	20169035	20169035	+	Silent	SNP	A	A	G			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr3:20169035A>G	ENST00000263754.4	+	11	2198	c.1743A>G	c.(1741-1743)caA>caG	p.Q581Q		NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	581	Acetyl-CoA binding. {ECO:0000269|PubMed:10393169}.|N-acetyltransferase. {ECO:0000250|UniProtKB:Q92830, ECO:0000255|PROSITE-ProRule:PRU00532}.				cell cycle arrest (GO:0007050)|cellular response to insulin stimulus (GO:0032869)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|histone H3-K9 acetylation (GO:0043970)|internal peptidyl-lysine acetylation (GO:0018393)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|Notch signaling pathway (GO:0007219)|peptidyl-lysine acetylation (GO:0018394)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein acetylation (GO:0006473)|regulation of protein ADP-ribosylation (GO:0010835)|rhythmic process (GO:0048511)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	A band (GO:0031672)|actomyosin (GO:0042641)|Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|I band (GO:0031674)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	acetyltransferase activity (GO:0016407)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|histone acetyltransferase activity (GO:0004402)|histone deacetylase binding (GO:0042826)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						CAAATGAGCAAGTCAAGGTAA	0.458																																																0													161	142	149					3																	20169035		2203	4300	6503	SO:0001819	synonymous_variant	8850			U57316	CCDS2634.1	3p24	2011-07-01	2008-07-04	2008-07-04	ENSG00000114166	ENSG00000114166		"Chromatin-modifying enzymes / K-acetyltransferases"	8638	protein-coding gene	gene with protein product		602303	"p300/CBP-associated factor"	PCAF		8684459, 9722949	Standard	NM_003884		Approved	P/CAF, GCN5, GCN5L	uc003cbq.3	Q92831	OTTHUMG00000130481	ENST00000263754.4:c.1743A>G	3.37:g.20169035A>G			Q6NSK1	Silent	SNP	ENST00000263754.4	37	CCDS2634.1																																																																																				0.458	KAT2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252880.1	NM_003884		G	20169035	A	G	20169035	2	3	697	1	0	0	0	0	0	0	0	1	7984	69	3	3		3	KAT2B	3	20169035	Silent	SNP	A	TCGA-KL-8328-01A-11D-2310-10		20169035	177853395	17	38631											
CCDC66	285331	broad.mit.edu;mdanderson.org	37	3	56649272	56649272	+	Silent	SNP	C	C	T			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr3:56649272C>T	ENST00000394672.3	+	12	1753	c.1683C>T	c.(1681-1683)gaC>gaT	p.D561D	CCDC66_ENST00000326595.7_Silent_p.D527D|CCDC66_ENST00000436465.2_Silent_p.D561D	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	561					post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|retinal rod cell development (GO:0046548)					breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		AGGGACATGACACTTCTAGAC	0.358																																																0													105	105	105					3																	56649272		2203	4300	6503	SO:0001819	synonymous_variant	285331			AL832692	CCDS33770.2, CCDS46852.1	3p14.3	2006-03-27			ENSG00000180376	ENSG00000180376			27709	protein-coding gene	gene with protein product						14702039	Standard	NR_024460		Approved	DKFZp686C0433	uc003dhz.3	A2RUB6	OTTHUMG00000155748	ENST00000394672.3:c.1683C>T	3.37:g.56649272C>T			B3KWL8|Q4VC34|Q8N949	Silent	SNP	ENST00000394672.3	37	CCDS46852.1																																																																																				0.358	CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341473.1	NM_001012506		T	56649272	C	T	56649272	2	4	697	1	0	0	0	0	0	0	0	1	2840	477	17	2		2	CCDC66	3	56649272	Silent	SNP	C	TCGA-KL-8328-01A-11D-2310-10	36480237	56649272	141373158	18	38632											
ROBO2	6092	broad.mit.edu;mdanderson.org	37	3	77571941	77571941	+	Silent	SNP	C	C	T	rs201344460		TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr3:77571941C>T	ENST00000461745.1	+	6	1722	c.822C>T	c.(820-822)gaC>gaT	p.D274D	ROBO2_ENST00000332191.8_Silent_p.D274D|ROBO2_ENST00000487694.3_Silent_p.D290D	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	274	Ig-like C2-type 3.				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)		ACATCAAAGACGATTACACAC	0.333													C|||	1	0.000199681	0.0	0.0	5008	,	,		16147	0.0		0.001	False		,,,				2504	0.0															0								C	,	2,3668		0,2,1833	121	115	117		870,822	0.4	1	3		117	1,8145		0,1,4072	yes	coding-synonymous,coding-synonymous	ROBO2	NM_001128929.2,NM_002942.4	,	0,3,5905	TT,TC,CC		0.0123,0.0545,0.0254	,	290/1395,274/1379	77571941	3,11813	1835	4073	5908	SO:0001819	synonymous_variant	6092			AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10250	protein-coding gene	gene with protein product		602431	"roundabout (axon guidance receptor, Drosophila) homolog 2"			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.822C>T	3.37:g.77571941C>T			O43608|Q19AB4|Q19AB5	Silent	SNP	ENST00000461745.1	37	CCDS43109.1																																																																																				0.333	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		T	77571941	C	T	77571941	2	4	697	1	0	0	0	0	0	0	0	1	13520	535	19	1		1	ROBO2	3	77571941	Silent	SNP	C	TCGA-KL-8328-01A-11D-2310-10	20922669	77571941	120450489	19	38633											
CRYBG3	131544	broad.mit.edu	37	3	97596465	97596468	+	Frame_Shift_Del	DEL	AGAG	AGAG	-			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	AGAG	AGAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr3:97596465_97596468delAGAG	ENST00000182096.4	+	1	647_650	c.583_586delAGAG	c.(583-588)agagagfs	p.RE195fs		NM_153605.3	NP_705833.3	Q68DQ2	CRBG3_HUMAN	beta-gamma crystallin domain containing 3	2143							carbohydrate binding (GO:0030246)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						TGAAGATGACAGAGAGGCAGCTGA	0.471																																																0																																										SO:0001589	frameshift_variant	131544					3q11.2	2008-09-30			ENSG00000080200	ENSG00000080200			34427	protein-coding gene	gene with protein product							Standard	NM_153605		Approved	DKFZp667G2110	uc021xbn.2	Q68DQ2	OTTHUMG00000159187	ENST00000182096.4:c.583_586delAGAG	3.37:g.97596465_97596468delAGAG	ENSP00000182096:p.Arg195fs		B4DLE8|F6VHI2|Q4G0V8|Q7Z4R9|Q86VD0|Q8N262|Q8N7F1|Q8NDQ8	Frame_Shift_Del	DEL	ENST00000182096.4	37																																																																																					0.471	CRYBG3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353751.1	NM_153605		-	97596468	AGAG	-	97596465	7	5	697	1	0	1	0	1	0	0	0	0	3915	180	7	0	585	0	CRYBG3	3	97596465	Frame_Shift_Del	DEL	AGAG	TCGA-KL-8328-01A-11D-2310-10	20024524	97596465	100425965	20	38634											
TM4SF4	7104	broad.mit.edu	37	3	149192812	149192812	+	Missense_Mutation	SNP	G	G	A	rs556358999	byFrequency	TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr3:149192812G>A	ENST00000305354.4	+	1	1052	c.148G>A	c.(148-150)Gga>Aga	p.G50R		NM_004617.3	NP_004608.1	P48230	T4S4_HUMAN	transmembrane 4 L six family member 4	50					tissue regeneration (GO:0042246)	integral component of membrane (GO:0016021)				large_intestine(3)|lung(4)|ovary(1)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			CTGGTTTTTCGGAGGAATATT	0.428													G|||	2	0.000399361	0.0	0.0	5008	,	,		18859	0.0		0.0	False		,,,				2504	0.002															0													63	58	59					3																	149192812		1833	4087	5920	SO:0001583	missense	7104				CCDS46932.1	3q25	2005-03-21	2005-03-21		ENSG00000169903	ENSG00000169903			11856	protein-coding gene	gene with protein product		606567	"transmembrane 4 superfamily member 4"			7665614	Standard	NM_004617		Approved	il-TMP	uc003exd.2	P48230	OTTHUMG00000159619	ENST00000305354.4:c.148G>A	3.37:g.149192812G>A	ENSP00000305852:p.Gly50Arg		B2RDA4	Missense_Mutation	SNP	ENST00000305354.4	37	CCDS46932.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.704458	0.88924	.	.	ENSG00000169903	ENST00000305354;ENST00000465758	T;T	0.30182	1.54;1.54	5.08	5.08	0.68730	.	0.152366	0.64402	D	0.000015	T	0.64148	0.2572	M	0.90759	3.145	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.69661	-0.5085	10	0.45353	T	0.12	-17.0483	18.8542	0.92244	0.0:0.0:1.0:0.0	.	50	P48230	T4S4_HUMAN	R	50	ENSP00000305852:G50R;ENSP00000419367:G50R	ENSP00000305852:G50R	G	+	1	0	TM4SF4	150675502	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.084000	0.94076	2.524000	0.85096	0.561000	0.74099	GGA		0.428	TM4SF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356528.1			A	149192812	G	A	149192812	3	1	697	1	0	0	0	0	1	0	0	0	15975	1117	39	1	150	1	TM4SF4	3	149192812	Missense_Mutation	SNP	G	TCGA-KL-8328-01A-11D-2310-10	51596347	149192812	48829618	21	38635											
TACC3	10460	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	4	1729580	1729580	+	Missense_Mutation	SNP	G	G	T			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr4:1729580G>T	ENST00000313288.4	+	4	557	c.451G>T	c.(451-453)Gac>Tac	p.D151Y		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	151					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|cytoplasmic sequestering of transcription factor (GO:0042994)|hemopoiesis (GO:0030097)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of cell cycle (GO:0051726)|regulation of microtubule-based process (GO:0032886)|response to hypoxia (GO:0001666)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			TGCCCTGGCTGACCTGGACTG	0.602																																					Ovarian(120;482 2294 11894 35824)											0													86	100	95					4																	1729580		2203	4300	6503	SO:0001583	missense	10460			AF093543	CCDS3352.1	4p16.3	2008-07-29			ENSG00000013810	ENSG00000013810			11524	protein-coding gene	gene with protein product		605303				17675670	Standard	NM_006342		Approved	ERIC1	uc003gdo.3	Q9Y6A5	OTTHUMG00000089535	ENST00000313288.4:c.451G>T	4.37:g.1729580G>T	ENSP00000326550:p.Asp151Tyr		Q2NKK4|Q3KQS5|Q9UMQ1	Missense_Mutation	SNP	ENST00000313288.4	37	CCDS3352.1	.	.	.	.	.	.	.	.	.	.	G	13.70	2.315439	0.40996	.	.	ENSG00000013810	ENST00000313288;ENST00000493975;ENST00000458173	T;T;T	0.55930	2.46;0.49;0.49	4.0	-2.72	0.05968	.	3.916390	0.01690	N	0.026626	T	0.56992	0.2023	L	0.36672	1.1	0.09310	N	1	D;D	0.76494	0.999;0.997	D;P	0.66847	0.947;0.808	T	0.49504	-0.8933	10	0.72032	D	0.01	0.4971	1.7812	0.03032	0.1921:0.2484:0.4313:0.1282	.	151;151	B4DYJ1;Q9Y6A5	.;TACC3_HUMAN	Y	151	ENSP00000326550:D151Y;ENSP00000418095:D151Y;ENSP00000415914:D151Y	ENSP00000326550:D151Y	D	+	1	0	TACC3	1699378	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.681000	0.05191	-1.111000	0.02988	0.563000	0.77884	GAC		0.602	TACC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000203730.2			T	1729580	G	T	1729580	3	4	697	1	0	0	0	0	1	0	0	0	15508	1290	45	4	461	4	TACC3	4	1729580	Missense_Mutation	SNP	G	TCGA-KL-8328-01A-11D-2310-10		1729580	189424696	22	38636											
ANKRD56	345079	hgsc.bcm.edu	37	4	77816688	77816690	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	TTG	TTG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr4:77816688_77816690delTTG	ENST00000334306.2	-	1	2312_2314	c.2313_2315delCAA	c.(2311-2316)aacaag>aag	p.N771del		NM_001029870.1	NP_001025041.1	A6NEL2	SWAHB_HUMAN	sosondowah ankyrin repeat domain family member B	771																	CAGTTTCCACTTGTTGTGCTGAC	0.473																																																0										5,4261		1,3,2129						0.5	1			240	0,8254		0,0,4127	no	coding	ANKRD56	NM_001029870.1		1,3,6256	A1A1,A1R,RR		0.0,0.1172,0.0399				5,12515				SO:0001651	inframe_deletion	345079				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.2313_2315delCAA	4.37:g.77816691_77816693delTTG	ENSP00000334879:p.Asn771del		B2RP29	In_Frame_Del	DEL	ENST00000334306.2	37	CCDS34017.1																																																																																				0.473	SOWAHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362762.1	NM_001029870		-	77816690	TTG	-	77816688	7	5	697	1	0	1	0	1	0	0	0	0	682	1609	56	0	70	0	ANKRD56	4	77816688	In_Frame_Del	DEL	TTG	TCGA-KL-8328-01A-11D-2310-10	76087108	77816688	113337588	23	38637	300	2									
ANKRD56	345079	bcgsc.ca	37	4	77816689	77816691	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	TTG	TTG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr4:77816689_77816691delTTG	ENST00000334306.2	-	1	2311_2313	c.2312_2314delCAA	c.(2311-2316)acaaag>aag	p.T771del		NM_001029870.1	NP_001025041.1	A6NEL2	SWAHB_HUMAN	sosondowah ankyrin repeat domain family member B	771																	AGTTTCCACTTGTTGTGCTGACT	0.473																																																0																																										SO:0001651	inframe_deletion	345079				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.2312_2314delCAA	4.37:g.77816689_77816691delTTG	ENSP00000334879:p.Thr771del		B2RP29	In_Frame_Del	DEL	ENST00000334306.2	37	CCDS34017.1																																																																																				0.473	SOWAHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362762.1	NM_001029870		-	77816691	TTG	-	77816689	7	5	697	1	0	1	0	1	0	0	0	0	682	1821	63	0	71	0	ANKRD56	4	77816689	In_Frame_Del	DEL	TTG	TCGA-KL-8328-01A-11D-2310-10	1	77816689	113337587	24	38638	300	2									
PKD2	5311	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	4	88986631	88986631	+	Nonsense_Mutation	SNP	C	C	T	rs121918040		TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr4:88986631C>T	ENST00000508588.1	+	6	873	c.478C>T	c.(478-480)Cga>Tga	p.R160*	PKD2_ENST00000511337.1_3'UTR|PKD2_ENST00000237596.2_Nonsense_Mutation_p.R742*|PKD2_ENST00000502363.1_Nonsense_Mutation_p.R160*			Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	0					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)	p.R742*(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		TGACGAACTTCGACAAGATCT	0.403																																																1	Substitution - Nonsense(1)	endometrium(1)	GRCh37	CM961124	PKD2	M	rs121918040						86	82	83					4																	88986631		2203	4300	6503	SO:0001587	stop_gained	5311			U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762		"Voltage-gated ion channels / Transient receptor potential cation channels", "EF-hand domain containing"	9009	protein-coding gene	gene with protein product	"transient receptor potential cation channel, subfamily P, member 2"	173910				8298643	Standard	NM_000297		Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	ENST00000508588.1:c.478C>T	4.37:g.88986631C>T	ENSP00000427131:p.Arg160*		Q8TB08|Q9P0T6|Q9Y3X8	Nonsense_Mutation	SNP	ENST00000508588.1	37		.	.	.	.	.	.	.	.	.	.	C	41	8.974909	0.99023	.	.	ENSG00000118762	ENST00000237596;ENST00000508588;ENST00000502363	.	.	.	5.89	5.05	0.67936	.	0.062020	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.2108	14.8891	0.70594	0.0:0.9315:0.0:0.0685	.	.	.	.	X	742;160;160	.	ENSP00000237596:R742X	R	+	1	2	PKD2	89205655	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	5.802000	0.69122	1.497000	0.48584	0.655000	0.94253	CGA		0.403	PKD2-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000363253.2	NM_000297		T	88986631	C	T	88986631	4	4	697	1	0	0	0	0	0	1	0	0	11968	876	31	1	2266	1	PKD2	4	88986631	Nonsense_Mutation	SNP	C	TCGA-KL-8328-01A-11D-2310-10	11169942	88986631	102167645	25	38639											
GRID2	2895	hgsc.bcm.edu;mdanderson.org	37	4	94411803	94411803	+	Silent	SNP	G	G	A	rs188016557	byFrequency	TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr4:94411803G>A	ENST00000282020.4	+	12	2130	c.1872G>A	c.(1870-1872)ccG>ccA	p.P624P	GRID2_ENST00000510992.1_Silent_p.P529P	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	624					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)		GGGAAGTCCCGTACACGACTC	0.423													G|||	12	0.00239617	0.0	0.0	5008	,	,		14519	0.0109		0.0	False		,,,				2504	0.001															0													114	124	120					4																	94411803		2203	4300	6503	SO:0001819	synonymous_variant	2895			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.1872G>A	4.37:g.94411803G>A			E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Silent	SNP	ENST00000282020.4	37	CCDS3637.1																																																																																				0.423	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			A	94411803	G	A	94411803	2	1	697	1	0	0	0	0	0	0	0	1	6774	1132	40	1		1	GRID2	4	94411803	Silent	SNP	G	TCGA-KL-8328-01A-11D-2310-10	5425172	94411803	96742473	26	38640											
FRG1	2483	mdanderson.org	37	4	190878552	190878552	+	Splice_Site	SNP	G	G	A			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr4:190878552G>A	ENST00000226798.4	+	6	654		c.e6-1		FRG1_ENST00000514482.1_Splice_Site	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1						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)		GTTTCACTTAGGGGAAAATGG	0.353																																																0													10	16	14					4																	190878552		2087	4234	6321	SO:0001630	splice_region_variant	2483			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.433-1G>A	4.37:g.190878552G>A			A8K775	Splice_Site	SNP	ENST00000226798.4	37	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	N	14.16	2.452126	0.43531	.	.	ENSG00000109536	ENST00000226798;ENST00000524583;ENST00000531991	.	.	.	3.8	3.8	0.43715	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6226	0.62146	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FRG1	191115546	1.000000	0.71417	1.000000	0.80357	0.449000	0.32228	9.545000	0.98095	1.860000	0.53959	0.454000	0.30748	.		0.353	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477	Intron	A	190878552	G	A	190878552	5	1	697	1	0	0	0	0	0	0	1	0	6048	1014	35	2	454	2	FRG1	4	190878552	Splice_Site	SNP	G	TCGA-KL-8328-01A-11D-2310-10	96466749	190878552	275724	27	38641											
PROP1	5626	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	5	177421251	177421251	+	Silent	SNP	C	C	T			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr5:177421251C>T	ENST00000308304.2	-	2	506	c.198G>A	c.(196-198)ccG>ccA	p.P66P		NM_006261.4	NP_006252	O75360	PROP1_HUMAN	PROP paired-like homeobox 1	66					blood vessel development (GO:0001568)|canonical Wnt signaling pathway (GO:0060070)|cell migration (GO:0016477)|central nervous system development (GO:0007417)|dorsal/ventral pattern formation (GO:0009953)|hypophysis morphogenesis (GO:0048850)|hypothalamus cell differentiation (GO:0021979)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatotropin secreting cell differentiation (GO:0060126)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)	p.P66P(2)		endometrium(1)|large_intestine(2)|lung(9)|stomach(1)	13	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCGGGAGTGCGGGCGGCCCC	0.662																																																2	Substitution - coding silent(2)	large_intestine(1)|lung(1)											34	37	36					5																	177421251		2203	4300	6503	SO:0001819	synonymous_variant	5626			AF076215	CCDS4430.1	5q35.3	2011-06-20	2007-07-12		ENSG00000175325	ENSG00000175325		"Homeoboxes / PRD class"	9455	protein-coding gene	gene with protein product		601538	"prophet of Pit1, paired-like homeodomain transcription factor"			9462743	Standard	NM_006261		Approved		uc003mif.1	O75360	OTTHUMG00000130887	ENST00000308304.2:c.198G>A	5.37:g.177421251C>T				Silent	SNP	ENST00000308304.2	37	CCDS4430.1																																																																																				0.662	PROP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253472.1	NM_006261		T	177421251	C	T	177421251	2	4	697	1	0	0	0	0	0	0	0	1	12562	755	27	1		1	PROP1	5	177421251	Silent	SNP	C	TCGA-KL-8328-01A-11D-2310-10		177421251	3494009	28	38642											
ZNF354C	30832	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	5	178506374	178506374	+	Missense_Mutation	SNP	C	C	A			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr5:178506374C>A	ENST00000315475.6	+	5	1247	c.941C>A	c.(940-942)aCc>aAc	p.T314N		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	314					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		CAGTGTTCAACCCTCACTGTA	0.428																																																0													174	175	175					5																	178506374		2203	4300	6503	SO:0001583	missense	30832				CCDS4443.1	5q35	2013-01-08			ENSG00000177932	ENSG00000177932		"Zinc fingers, C2H2-type", "-"	16736	protein-coding gene	gene with protein product						10786630	Standard	NM_014594		Approved	KID3	uc003mju.3	Q86Y25	OTTHUMG00000130888	ENST00000315475.6:c.941C>A	5.37:g.178506374C>A	ENSP00000324064:p.Thr314Asn		Q6P4P9|Q8NFX1	Missense_Mutation	SNP	ENST00000315475.6	37	CCDS4443.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.209317	0.39003	.	.	ENSG00000177932	ENST00000315475	T	0.07800	3.16	4.04	4.04	0.47022	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08358	0.0208	N	0.02315	-0.6	0.34396	D	0.694743	D	0.63880	0.993	D	0.64776	0.929	T	0.48151	-0.9060	9	0.15499	T	0.54	-13.1132	14.0864	0.64959	0.0:1.0:0.0:0.0	.	314	Q86Y25	Z354C_HUMAN	N	314	ENSP00000324064:T314N	ENSP00000324064:T314N	T	+	2	0	ZNF354C	178438980	0.000000	0.05858	0.999000	0.59377	0.860000	0.49131	-0.003000	0.12901	2.226000	0.72624	0.591000	0.81541	ACC		0.428	ZNF354C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253473.2			A	178506374	C	A	178506374	3	1	697	1	0	0	0	0	1	0	0	0	17871	507	18	4	955	4	ZNF354C	5	178506374	Missense_Mutation	SNP	C	TCGA-KL-8328-01A-11D-2310-10	1085123	178506374	2408886	29	38643											
ZNF187	0	broad.mit.edu;mdanderson.org	37	6	28240025	28240025	+	IGR	SNP	G	G	A			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr6:28240025G>A								NKAPL (11289 upstream) : PGBD1 (9288 downstream)																							CTCCAGGCCCGGGTGCAGGAG	0.567																																																0													20	20	20					6																	28240025		692	1591	2283	SO:0001628	intergenic_variant	7741																															6.37:g.28240025G>A				Missense_Mutation	SNP		37																																																																																				0	0.567									A	28240025	G	A	28240025	1	1	697	0	1	0	0	0	0	0	0	0	17758	1116	39	1		1	ZNF187	6	28240025	IGR	SNP	G	TCGA-KL-8328-01A-11D-2310-10		28240025	142875042	30	38644											
HLA-C	3107	mdanderson.org	37	6	31238929	31238929	+	Silent	SNP	C	C	G	rs2308592	byFrequency	TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr6:31238929C>G	ENST00000376228.5	-	3	554	c.540G>C	c.(538-540)ctG>ctC	p.L180L	HLA-C_ENST00000383329.3_Silent_p.L180L	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	180	Alpha-2.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						GGTAGGCTCTCAGCTGCTCCG	0.692																																																0													44	31	36					6																	31238929		2196	4292	6488	SO:0001819	synonymous_variant	3107			M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4933	protein-coding gene	gene with protein product		142840	"psoriasis susceptibility 1"	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.540G>C	6.37:g.31238929C>G			O02864|O02958|Q29643|Q9MY30	Silent	SNP	ENST00000376228.5	37	CCDS34393.1	.	.	.	.	.	.	.	.	.	.	.	5.596	0.294742	0.10567	.	.	ENSG00000204525	ENST00000415537	.	.	.	2.81	-5.62	0.02481	.	.	.	.	.	T	0.06600	0.0169	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.26744	-1.0094	4	.	.	.	.	3.9618	0.09413	0.0987:0.4803:0.1638:0.2572	rs41547419	.	.	.	Q	180	.	.	E	-	1	0	HLA-C	31346908	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.653000	0.00856	-1.717000	0.01385	0.305000	0.20034	GAG		0.692	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076281.3	NM_002117		G	31238929	C	G	31238929	2	3	697	1	0	0	0	0	0	0	0	1	7199	813	29	4		4	HLA-C	6	31238929	Silent	SNP	C	TCGA-KL-8328-01A-11D-2310-10	2998904	31238929	139876138	31	38645	301	2									
HLA-C	3107	mdanderson.org	37	6	31238931	31238931	+	Missense_Mutation	SNP	G	G	C	rs697743	byFrequency	TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr6:31238931G>C	ENST00000376228.5	-	3	552	c.538C>G	c.(538-540)Ctg>Gtg	p.L180V	HLA-C_ENST00000383329.3_Missense_Mutation_p.L180V	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	180	Alpha-2.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)	p.L180L(2)		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						TAGGCTCTCAGCTGCTCCGCC	0.682																																																2	Substitution - coding silent(2)	prostate(2)											43	30	34					6																	31238931		2197	4291	6488	SO:0001583	missense	3107			M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4933	protein-coding gene	gene with protein product		142840	"psoriasis susceptibility 1"	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.538C>G	6.37:g.31238931G>C	ENSP00000365402:p.Leu180Val		O02864|O02958|Q29643|Q9MY30	Missense_Mutation	SNP	ENST00000376228.5	37	CCDS34393.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.115|0.115	-1.133170|-1.133170	0.01756|0.01756	.|.	.|.	ENSG00000204525|ENSG00000204525	ENST00000415537|ENST00000376228;ENST00000383329;ENST00000396254;ENST00000539307	.|T;T	.|0.00009	.|9.46;9.46	2.81|2.81	-5.62|-5.62	0.02481|0.02481	.|MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.|115.764000	.|0.00166	.|U	.|0.000008	T|T	0.00012|0.00012	0.0000|0.0000	L|L	0.39514|0.39514	1.22|1.22	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.19331	.|0.035;0.01;0.005;0.01	.|B;B;B;B	.|0.31812	.|0.136;0.056;0.04;0.056	T|T	0.44065|0.44065	-0.9352|-0.9352	5|10	.|0.18710	.|T	.|0.47	.|.	2.8574|2.8574	0.05576|0.05576	0.25:0.4691:0.1066:0.1744|0.25:0.4691:0.1066:0.1744	rs697743;rs2308591;rs3176036;rs3179868;rs3200237;rs3204480;rs12721958;rs17839941;rs28732104|rs697743;rs2308591;rs3176036;rs3179868;rs3200237;rs3204480;rs12721958;rs17839941;rs28732104	.|180;180;180;180	.|A2AEA4;A6H578;A2AEA2;P10321	.|.;.;.;1C07_HUMAN	G|V	179|180;180;180;217	.|ENSP00000365402:L180V;ENSP00000372819:L180V	.|ENSP00000365402:L180V	A|L	-|-	2|1	0|2	HLA-C|HLA-C	31346910|31346910	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-12.042000|-12.042000	0.00002|0.00002	-4.714000|-4.714000	0.00035|0.00035	-1.872000|-1.872000	0.00552|0.00552	GCT|CTG		0.682	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076281.3	NM_002117		C	31238931	G	C	31238931	3	2	697	1	0	0	0	0	1	0	0	0	7199	962	34	4	586	4	HLA-C	6	31238931	Missense_Mutation	SNP	G	TCGA-KL-8328-01A-11D-2310-10	2	31238931	139876136	32	38646	301	2									
BCLAF1	9774	broad.mit.edu;mdanderson.org;bcgsc.ca	37	6	136599231	136599231	+	Missense_Mutation	SNP	T	T	A			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr6:136599231T>A	ENST00000531224.1	-	4	1040	c.788A>T	c.(787-789)cAt>cTt	p.H263L	BCLAF1_ENST00000527536.1_Missense_Mutation_p.H263L|BCLAF1_ENST00000353331.4_Missense_Mutation_p.H261L|BCLAF1_ENST00000527759.1_Missense_Mutation_p.H261L|BCLAF1_ENST00000392348.2_Missense_Mutation_p.H261L|BCLAF1_ENST00000530767.1_Missense_Mutation_p.H263L	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	263					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)		CTGAATGGAATGTGAATGCTG	0.443																																					Colon(142;1534 1789 5427 7063 28491)											0													130	121	124					6																	136599231		2203	4300	6503	SO:0001583	missense	9774			AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.788A>T	6.37:g.136599231T>A	ENSP00000435210:p.His263Leu		A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	T	15.81	2.941948	0.53079	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.14893	2.47;2.47;2.47;2.47;2.47;2.47;2.47	5.82	5.82	0.92795	.	0.000000	0.64402	D	0.000002	T	0.13500	0.0327	N	0.08118	0	0.80722	D	1	D;D;D;D	0.53462	0.96;0.96;0.96;0.96	D;D;D;D	0.64237	0.923;0.923;0.923;0.923	T	0.31558	-0.9939	10	0.48119	T	0.1	-13.1518	16.182	0.81915	0.0:0.0:0.0:1.0	.	261;261;263;263	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	L	263;261;263;263;261;261;263	ENSP00000435210:H263L;ENSP00000229446:H261L;ENSP00000435441:H263L;ENSP00000436501:H263L;ENSP00000434826:H261L;ENSP00000376159:H261L;ENSP00000431734:H263L	ENSP00000229446:H261L	H	-	2	0	BCLAF1	136640924	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.767000	0.68850	2.222000	0.72286	0.528000	0.53228	CAT		0.443	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		A	136599231	T	A	136599231	3	1	697	1	0	0	0	0	1	0	0	0	1383	1464	51	5	2014	5	BCLAF1	6	136599231	Missense_Mutation	SNP	T	TCGA-KL-8328-01A-11D-2310-10	105360300	136599231	34515836	33	38647											
AKAP12	9590	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	6	151673069	151673069	+	Silent	SNP	C	C	T	rs573717108		TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr6:151673069C>T	ENST00000253332.1	+	3	3732	c.3543C>T	c.(3541-3543)gaC>gaT	p.D1181D	AKAP12_ENST00000359755.5_Silent_p.D1076D|AKAP12_ENST00000354675.6_Silent_p.D1083D|AKAP12_ENST00000402676.2_Silent_p.D1181D			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1181					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)	p.D1181D(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		CCGACTTTGACGCACCAGGCA	0.552													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19234	0.0		0.0	False		,,,				2504	0.0				Melanoma(141;1616 1805 10049 24534 51979)											1	Substitution - coding silent(1)	large_intestine(1)											110	107	108					6																	151673069		2203	4300	6503	SO:0001819	synonymous_variant	9590			U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"A-kinase anchor proteins"	370	protein-coding gene	gene with protein product	"gravin", "Src-Suppressed C Kinase Substrate"	604698	"A kinase (PRKA) anchor protein (gravin) 12"			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.3543C>T	6.37:g.151673069C>T			O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Silent	SNP	ENST00000253332.1	37	CCDS5229.1																																																																																				0.552	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			T	151673069	C	T	151673069	2	4	697	1	0	0	0	0	0	0	0	1	448	535	19	1		1	AKAP12	6	151673069	Silent	SNP	C	TCGA-KL-8328-01A-11D-2310-10	15073838	151673069	19441998	34	38648											
FNDC1	84624	hgsc.bcm.edu;bcgsc.ca	37	6	159660825	159660825	+	Missense_Mutation	SNP	G	G	A	rs547791202	byFrequency	TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr6:159660825G>A	ENST00000297267.9	+	14	4657	c.4457G>A	c.(4456-4458)cGt>cAt	p.R1486H	FNDC1-IT1_ENST00000419703.1_RNA|FNDC1_ENST00000340366.6_Missense_Mutation_p.R1423H	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1486	Thr-rich.				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)		accaccaggcgtccaacaacc	0.677													G|||	2	0.000399361	0.0	0.0	5008	,	,		11191	0.0		0.0	False		,,,				2504	0.002															0													68	96	86					6																	159660825		1826	3640	5466	SO:0001583	missense	84624			AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"Fibronectin type III domain containing"	21184	protein-coding gene	gene with protein product		609991	"fibronectin type III domain containing 2"	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.4457G>A	6.37:g.159660825G>A	ENSP00000297267:p.Arg1486His		A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	G	6.865	0.529009	0.13127	.	.	ENSG00000164694	ENST00000297267;ENST00000340366	T;T	0.08193	3.12;3.94	4.3	1.13	0.20643	.	0.377447	0.21663	N	0.070996	T	0.01254	0.0041	N	0.14661	0.345	0.09310	N	1	B;B	0.25521	0.128;0.029	B;B	0.14578	0.011;0.005	T	0.45848	-0.9233	10	0.46703	T	0.11	-4.7996	4.7665	0.13135	0.2001:0.3385:0.4614:0.0	.	1423;1486	Q4ZHG4-2;Q4ZHG4	.;FNDC1_HUMAN	H	1486;1423	ENSP00000297267:R1486H;ENSP00000342460:R1423H	ENSP00000297267:R1486H	R	+	2	0	FNDC1	159580815	1.000000	0.71417	0.011000	0.14972	0.021000	0.10359	1.459000	0.35234	0.506000	0.28125	0.655000	0.94253	CGT		0.677	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		A	159660825	G	A	159660825	3	1	697	1	0	0	0	0	1	0	0	0	5970	1145	40	1	4511	1	FNDC1	6	159660825	Missense_Mutation	SNP	G	TCGA-KL-8328-01A-11D-2310-10	7987756	159660825	11454242	35	38649											
MLXIPL	51085	hgsc.bcm.edu;ucsc.edu	37	7	73020310	73020310	+	Silent	SNP	G	G	A	rs578022743		TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr7:73020310G>A	ENST00000313375.3	-	6	797	c.750C>T	c.(748-750)tcC>tcT	p.S250S	MLXIPL_ENST00000354613.1_Silent_p.S250S|MLXIPL_ENST00000429400.2_Silent_p.S250S|MLXIPL_ENST00000414749.2_Silent_p.S250S|MLXIPL_ENST00000395189.1_Intron|MLXIPL_ENST00000434326.1_Intron	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	MLXPL_HUMAN	MLX interacting protein-like	250					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)				CTGAGATGTCGGACAAAAAGC	0.627													G|||	1	0.000199681	0.0	0.0	5008	,	,		17309	0.001		0.0	False		,,,				2504	0.0															0													38	37	37					7																	73020310		2203	4300	6503	SO:0001819	synonymous_variant	51085			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.750C>T	7.37:g.73020310G>A			C5HU02|C5HU03|C5HU04|Q96E48|Q9BY03|Q9BY04|Q9BY05|Q9BY06|Q9Y2P3	Silent	SNP	ENST00000313375.3	37	CCDS5553.1																																																																																				0.627	MLXIPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252262.1	NM_032951		A	73020310	G	A	73020310	2	1	697	1	0	0	0	0	0	0	0	1	9639	1103	39	1		1	MLXIPL	7	73020310	Silent	SNP	G	TCGA-KL-8328-01A-11D-2310-10		73020310	86118353	36	38650											
NPTX2	4885	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	7	98254299	98254299	+	Missense_Mutation	SNP	T	T	G			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr7:98254299T>G	ENST00000265634.3	+	3	874	c.709T>G	c.(709-711)Tac>Gac	p.Y237D		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	237	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)			AAACTACCTATACGGCAAGAT	0.587																																																0													223	178	193					7																	98254299		2203	4300	6503	SO:0001583	missense	4885				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.709T>G	7.37:g.98254299T>G	ENSP00000265634:p.Tyr237Asp		A4D267|Q86XV7|Q96G70	Missense_Mutation	SNP	ENST00000265634.3	37	CCDS5657.1	.	.	.	.	.	.	.	.	.	.	T	17.95	3.514425	0.64522	.	.	ENSG00000106236	ENST00000265634	T	0.05925	3.37	5.57	5.57	0.84162	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.053697	0.85682	D	0.000000	T	0.36220	0.0959	H	0.95151	3.63	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	T	0.53229	-0.8468	10	0.87932	D	0	-18.2805	14.9047	0.70709	0.0:0.0:0.0:1.0	.	237	P47972	NPTX2_HUMAN	D	237	ENSP00000265634:Y237D	ENSP00000265634:Y237D	Y	+	1	0	NPTX2	98092235	1.000000	0.71417	0.916000	0.36221	0.244000	0.25665	7.997000	0.88414	2.116000	0.64780	0.459000	0.35465	TAC		0.587	NPTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334982.1	NM_002523		G	98254299	T	G	98254299	3	3	697	1	0	0	0	0	1	0	0	0	10605	1406	49	5	719	5	NPTX2	7	98254299	Missense_Mutation	SNP	T	TCGA-KL-8328-01A-11D-2310-10	25233989	98254299	60884364	37	38651											
CNTNAP2	26047	hgsc.bcm.edu;ucsc.edu	37	7	146829390	146829390	+	Silent	SNP	C	C	T	rs78543192	byFrequency	TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr7:146829390C>T	ENST00000361727.3	+	8	1653	c.1137C>T	c.(1135-1137)aaC>aaT	p.N379N		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	379					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)			TCTTTTTCAACGCTACAAGTT	0.458										HNSCC(39;0.1)			T|||	30	0.00599042	0.0219	0.0014	5008	,	,		20040	0.0		0.0	False		,,,				2504	0.0															0								T		66,4340	820.5+/-416.4	0,66,2137	126	121	122		1137	3.3	1	7	dbSNP_132	122	0,8600		0,0,4300	no	coding-synonymous	CNTNAP2	NM_014141.5		0,66,6437	TT,TC,CC		0.0,1.498,0.5075		379/1332	146829390	66,12940	2203	4300	6503	SO:0001819	synonymous_variant	26047			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1137C>T	7.37:g.146829390C>T			D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP	ENST00000361727.3	37	CCDS5889.1																																																																																				0.458	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			T	146829390	C	T	146829390	2	4	697	1	0	0	0	0	0	0	0	1	3649	535	19	1		1	CNTNAP2	7	146829390	Silent	SNP	C	TCGA-KL-8328-01A-11D-2310-10	48575091	146829390	12309273	38	38652											
CHPF2	54480	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	7	150932432	150932432	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr7:150932432C>T	ENST00000035307.2	+	2	2075	c.562C>T	c.(562-564)Cag>Tag	p.Q188*	CHPF2_ENST00000495645.1_Nonsense_Mutation_p.Q180*	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	188					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						CACATATGTGCAGGCCCCCCG	0.627																																																0													92	94	93					7																	150932432		2203	4300	6503	SO:0001587	stop_gained	54480			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.562C>T	7.37:g.150932432C>T	ENSP00000035307:p.Gln188*		B2DBD8|Q6P2I4|Q6UXD2	Nonsense_Mutation	SNP	ENST00000035307.2	37	CCDS34779.1	.	.	.	.	.	.	.	.	.	.	C	38	7.243506	0.98161	.	.	ENSG00000033100	ENST00000495645;ENST00000035307;ENST00000377851	.	.	.	5.43	5.43	0.79202	.	0.155451	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-28.4784	13.2489	0.60039	0.1585:0.8415:0.0:0.0	.	.	.	.	X	180;188;188	.	.	Q	+	1	0	CHPF2	150563365	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.180000	0.50895	2.547000	0.85894	0.591000	0.81541	CAG		0.627	CHPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348648.2	NM_019015		T	150932432	C	T	150932432	4	4	697	1	0	0	0	0	0	1	0	0	3371	711	25	2	568	2	CHPF2	7	150932432	Nonsense_Mutation	SNP	C	TCGA-KL-8328-01A-11D-2310-10	4103042	150932432	8206231	39	38653											
MTBP	27085	ucsc.edu;bcgsc.ca	37	8	121467780	121467780	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr8:121467780A>G	ENST00000305949.1	+	6	635	c.590A>G	c.(589-591)tAt>tGt	p.Y197C		NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	MDM2 binding protein	197					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)			AGAGAATGGTATTCAGCAAAG	0.328																																																0													148	148	148					8																	121467780		2203	4296	6499	SO:0001583	missense	27085				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.590A>G	8.37:g.121467780A>G	ENSP00000303398:p.Tyr197Cys		B4DUR5|Q9HA89	Missense_Mutation	SNP	ENST00000305949.1	37	CCDS6333.1	.	.	.	.	.	.	.	.	.	.	A	19.13	3.767765	0.69878	.	.	ENSG00000172167	ENST00000305949	.	.	.	5.58	5.58	0.84498	.	0.111345	0.64402	D	0.000014	T	0.60431	0.2268	L	0.51422	1.61	0.33018	D	0.528502	D	0.60575	0.988	P	0.53360	0.724	T	0.73228	-0.4049	9	0.87932	D	0	-6.7991	15.7325	0.77817	1.0:0.0:0.0:0.0	.	197	Q96DY7	MTBP_HUMAN	C	197	.	ENSP00000303398:Y197C	Y	+	2	0	MTBP	121536961	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	6.919000	0.75793	2.128000	0.65567	0.391000	0.25812	TAT		0.328	MTBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381530.1	NM_022045		G	121467780	A	G	121467780	3	3	697	1	0	0	0	0	1	0	0	0	9914	449	16	3	612	3	MTBP	8	121467780	Missense_Mutation	SNP	A	TCGA-KL-8328-01A-11D-2310-10		121467780	24896242	40	38654											
SMARCA2	6595	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	9	2056812	2056812	+	Silent	SNP	T	T	A			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr9:2056812T>A	ENST00000382203.1	+	7	1523	c.1314T>A	c.(1312-1314)atT>atA	p.I438I	SMARCA2_ENST00000357248.2_Silent_p.I438I|SMARCA2_ENST00000349721.2_Silent_p.I438I|SMARCA2_ENST00000382194.1_Silent_p.I438I			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	438	HSA. {ECO:0000255|PROSITE- ProRule:PRU00549}.				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)		AGCAGAAGATTGAGCAGGAGA	0.532																																																0													83	77	79					9																	2056812		2203	4300	6503	SO:0001819	synonymous_variant	6595			D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.1314T>A	9.37:g.2056812T>A			B1ALG3|B1ALG4|D3DRH4|D3DRH5	Silent	SNP	ENST00000382203.1	37	CCDS34977.1																																																																																				0.532	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		A	2056812	T	A	2056812	2	1	697	1	0	0	0	0	0	0	0	1	14775	1800	63	5		5	SMARCA2	9	2056812	Silent	SNP	T	TCGA-KL-8328-01A-11D-2310-10		2056812	139156619	41	38655											
OR13C2	392376	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	9	107367649	107367649	+	Nonsense_Mutation	SNP	G	G	C			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr9:107367649G>C	ENST00000542196.1	-	1	302	c.260C>G	c.(259-261)tCa>tGa	p.S87*		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	87						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(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						CTTTCTTTCTGAAAGGAAGCT	0.517																																																0													49	52	51					9																	107367649		2195	4295	6490	SO:0001587	stop_gained	392376				CCDS35092.1	9q31.1	2012-10-03			ENSG00000257019	ENSG00000276119		"GPCR / Class A : Olfactory receptors"	14701	protein-coding gene	gene with protein product							Standard	NM_001004481		Approved		uc011lvq.2	Q8NGS9	OTTHUMG00000020415	ENST00000542196.1:c.260C>G	9.37:g.107367649G>C	ENSP00000438815:p.Ser87*		B9EGV8|Q6IF54	Nonsense_Mutation	SNP	ENST00000542196.1	37	CCDS35092.1	.	.	.	.	.	.	.	.	.	.	G	11.13	1.547621	0.27652	.	.	ENSG00000257019	ENST00000542196	.	.	.	3.39	3.39	0.38822	.	0.000000	0.32055	U	0.006658	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	12.3016	0.54878	0.0:0.0:1.0:0.0	.	.	.	.	X	87	.	ENSP00000438815:S87X	S	-	2	0	OR13C2	106407470	0.000000	0.05858	0.011000	0.14972	0.201000	0.24016	0.721000	0.25911	1.723000	0.51488	0.462000	0.41574	TCA		0.517	OR13C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053489.2	NM_001004481		C	107367649	G	C	107367649	4	2	697	1	0	0	0	0	0	1	0	0	10936	1294	45	4	699	4	OR13C2	9	107367649	Nonsense_Mutation	SNP	G	TCGA-KL-8328-01A-11D-2310-10	105310837	107367649	33845782	42	38656											
MUSK	4593	broad.mit.edu;mdanderson.org	37	9	113563201	113563201	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr9:113563201G>A	ENST00000374448.4	+	15	2677	c.2543G>A	c.(2542-2544)aGt>aAt	p.S848N	MUSK_ENST00000416899.2_Missense_Mutation_p.S840N|MUSK_ENST00000189978.5_Missense_Mutation_p.S848N	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	848	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						GACAGACCCAGTTTCACCAGT	0.507																																																0													41	39	40					9																	113563201		2021	4185	6206	SO:0001583	missense	4593			AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.2543G>A	9.37:g.113563201G>A	ENSP00000363571:p.Ser848Asn		Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Missense_Mutation	SNP	ENST00000374448.4	37	CCDS48005.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.323273	0.60634	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000416899	T	0.53857	0.6	5.62	5.62	0.85841	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.125544	0.64402	D	0.000001	T	0.58323	0.2114	L	0.41492	1.28	0.80722	D	1	P	0.34743	0.466	P	0.46339	0.513	T	0.55939	-0.8061	10	0.48119	T	0.1	.	19.0078	0.92859	0.0:0.0:1.0:0.0	.	848	O15146	MUSK_HUMAN	N	854;848;848;762;762;846	ENSP00000363571:S848N	ENSP00000189978:S854N	S	+	2	0	MUSK	112603022	1.000000	0.71417	0.989000	0.46669	0.975000	0.68041	9.813000	0.99286	2.809000	0.96659	0.557000	0.71058	AGT		0.507	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				A	113563201	G	A	113563201	3	1	697	1	0	0	0	0	1	0	0	0	9991	1029	36	2	2633	2	MUSK	9	113563201	Missense_Mutation	SNP	G	TCGA-KL-8328-01A-11D-2310-10	6195552	113563201	27650230	43	38657											
PI4K2A	55361	broad.mit.edu	37	10	99400542	99400542	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr10:99400542delC	ENST00000370631.3	+	1	100	c.43delC	c.(43-45)cccfs	p.P16fs	PI4K2A_ENST00000555577.1_Intron|PI4K2A_ENST00000370649.3_Intron	NM_018425.2	NP_060895.1	Q9BTU6	P4K2A_HUMAN	phosphatidylinositol 4-kinase type 2 alpha	16					basophil degranulation (GO:0002561)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endosome (GO:0005768)|exocytic vesicle (GO:0070382)|Golgi apparatus (GO:0005794)|growing cell tip (GO:0035838)|host cell presynaptic membrane (GO:0044231)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|presynaptic membrane (GO:0042734)|protein complex (GO:0043234)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|AP-3 adaptor complex binding (GO:0035651)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)		GCGGGCCCAACCCCCGGACTA	0.766																																																0													11	13	12					10																	99400542		2163	4274	6437	SO:0001589	frameshift_variant	55361			AF070611	CCDS7469.1	10q24	2011-02-09			ENSG00000155252	ENSG00000155252			30031	protein-coding gene	gene with protein product		609763				11244087, 11279162	Standard	NM_018425		Approved	PI4KII, DKFZP761G1923, PIK42A	uc001kog.1	Q9BTU6	OTTHUMG00000018863	ENST00000370631.3:c.43delC	10.37:g.99400542delC	ENSP00000359665:p.Pro16fs		D3DR59|Q9NSG8	Frame_Shift_Del	DEL	ENST00000370631.3	37	CCDS7469.1																																																																																				0.766	PI4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049735.1	NM_018425		-	99400542	C	-	99400542	7	5	697	1	0	1	0	1	0	0	0	0	11873	507	18	0	45	0	PI4K2A	10	99400542	Frame_Shift_Del	DEL	C	TCGA-KL-8328-01A-11D-2310-10		99400542	36134205	44	38658											
C10orf120	399814	hgsc.bcm.edu;bcgsc.ca	37	10	124457697	124457697	+	Missense_Mutation	SNP	T	T	G			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr10:124457697T>G	ENST00000329446.4	-	3	591	c.560A>C	c.(559-561)gAa>gCa	p.E187A		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	187										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				TGTAAACCTTTCAATGTAGGG	0.473																																																0													137	122	127					10																	124457697		2203	4300	6503	SO:0001583	missense	399814				CCDS31302.1	10q26.13	2012-06-12			ENSG00000183559	ENSG00000183559			25707	protein-coding gene	gene with protein product							Standard	NM_001010912		Approved	bA318C4.1	uc001lgn.3	Q5SQS8	OTTHUMG00000019187	ENST00000329446.4:c.560A>C	10.37:g.124457697T>G	ENSP00000331012:p.Glu187Ala		B2RU17	Missense_Mutation	SNP	ENST00000329446.4	37	CCDS31302.1	.	.	.	.	.	.	.	.	.	.	T	11.58	1.680512	0.29872	.	.	ENSG00000183559	ENST00000329446	T	0.31510	1.49	4.57	0.639	0.17747	.	0.393246	0.21776	N	0.069282	T	0.23532	0.0569	L	0.43152	1.355	0.09310	N	1	P	0.34639	0.461	B	0.39562	0.303	T	0.12016	-1.0564	10	0.40728	T	0.16	-12.4131	4.0837	0.09937	0.0:0.1945:0.1776:0.6279	.	187	Q5SQS8	CJ120_HUMAN	A	187	ENSP00000331012:E187A	ENSP00000331012:E187A	E	-	2	0	C10orf120	124447687	0.011000	0.17503	0.003000	0.11579	0.008000	0.06430	0.943000	0.29030	0.003000	0.14656	0.491000	0.48974	GAA		0.473	C10orf120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050803.1	NM_001010912		G	124457697	T	G	124457697	3	3	697	1	0	0	0	0	1	0	0	0	1592	1783	62	5	451	5	C10orf120	10	124457697	Missense_Mutation	SNP	T	TCGA-KL-8328-01A-11D-2310-10	25057155	124457697	11077050	45	38659	302	2									
C10orf120	399814	broad.mit.edu;bcgsc.ca	37	10	124457698	124457698	+	Nonsense_Mutation	SNP	C	C	A			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr10:124457698C>A	ENST00000329446.4	-	3	590	c.559G>T	c.(559-561)Gaa>Taa	p.E187*		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	187										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				GTAAACCTTTCAATGTAGGGT	0.473																																																0													137	122	127					10																	124457698		2203	4300	6503	SO:0001587	stop_gained	399814				CCDS31302.1	10q26.13	2012-06-12			ENSG00000183559	ENSG00000183559			25707	protein-coding gene	gene with protein product							Standard	NM_001010912		Approved	bA318C4.1	uc001lgn.3	Q5SQS8	OTTHUMG00000019187	ENST00000329446.4:c.559G>T	10.37:g.124457698C>A	ENSP00000331012:p.Glu187*		B2RU17	Nonsense_Mutation	SNP	ENST00000329446.4	37	CCDS31302.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.256243	0.59321	.	.	ENSG00000183559	ENST00000329446	.	.	.	4.57	4.57	0.56435	.	0.393246	0.21776	N	0.069282	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-12.4131	13.0518	0.58958	0.0:1.0:0.0:0.0	.	.	.	.	X	187	.	ENSP00000331012:E187X	E	-	1	0	C10orf120	124447688	0.008000	0.16893	0.007000	0.13788	0.007000	0.05969	0.897000	0.28390	2.507000	0.84556	0.603000	0.83216	GAA		0.473	C10orf120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050803.1	NM_001010912		A	124457698	C	A	124457698	4	1	697	1	0	0	0	0	0	1	0	0	1592	835	29	4	452	4	C10orf120	10	124457698	Nonsense_Mutation	SNP	C	TCGA-KL-8328-01A-11D-2310-10	1	124457698	11077049	46	38660	302	2									
AMBRA1	55626	ucsc.edu;bcgsc.ca	37	11	46515749	46515749	+	Missense_Mutation	SNP	T	T	C	rs147544015	byFrequency	TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr11:46515749T>C	ENST00000458649.2	-	10	2763	c.2345A>G	c.(2344-2346)aAt>aGt	p.N782S	AMBRA1_ENST00000533727.1_Missense_Mutation_p.N663S|AMBRA1_ENST00000298834.3_Missense_Mutation_p.N722S|AMBRA1_ENST00000534300.1_Missense_Mutation_p.N722S|AMBRA1_ENST00000314845.3_Missense_Mutation_p.N692S|AMBRA1_ENST00000528950.1_Missense_Mutation_p.N753S|AMBRA1_ENST00000426438.1_Missense_Mutation_p.N753S|AMBRA1_ENST00000529963.1_5'UTR			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	782					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)		TCTGTCACCATTGTCCCTGAA	0.468													T|||	3	0.000599042	0.0	0.0043	5008	,	,		18258	0.0		0.0	False		,,,				2504	0.0															0								T	SER/ASN	0,4402		0,0,2201	49	43	45		2075	2.4	1	11	dbSNP_134	45	1,8597	1.2+/-3.3	0,1,4298	yes	missense	AMBRA1	NM_017749.2	46	0,1,6499	CC,CT,TT		0.0116,0.0,0.0077	benign	692/1209	46515749	1,12999	2201	4299	6500	SO:0001583	missense	55626			AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	25990	protein-coding gene	gene with protein product	"WD repeat domain 94", "DDB1 and CUL4 associated factor 3"	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.2345A>G	11.37:g.46515749T>C	ENSP00000415327:p.Asn782Ser		A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Missense_Mutation	SNP	ENST00000458649.2	37		2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	T	16.46	3.130274	0.56721	0.0	1.16E-4	ENSG00000110497	ENST00000314845;ENST00000533727;ENST00000534300;ENST00000426438;ENST00000298834;ENST00000458649;ENST00000528950	D;D;D;D;D;D;D	0.90732	-2.72;-2.72;-2.72;-2.72;-2.72;-2.72;-2.72	4.78	2.43	0.29744	.	0.178269	0.64402	N	0.000016	T	0.75547	0.3864	L	0.27053	0.805	0.27935	N	0.937725	P;B;B;B;B;B	0.48764	0.915;0.002;0.002;0.002;0.003;0.0	B;B;B;B;B;B	0.39465	0.3;0.002;0.002;0.002;0.004;0.002	T	0.70626	-0.4820	10	0.27082	T	0.32	.	8.2757	0.31871	0.0:0.1603:0.0:0.8397	.	782;753;722;663;785;692	Q9C0C7;Q9C0C7-3;Q9C0C7-2;G3V193;Q9C0C7-5;Q9C0C7-4	AMRA1_HUMAN;.;.;.;.;.	S	692;663;722;753;722;782;753	ENSP00000318313:N692S;ENSP00000433372:N663S;ENSP00000431926:N722S;ENSP00000410899:N753S;ENSP00000298834:N722S;ENSP00000415327:N782S;ENSP00000433945:N753S	ENSP00000298834:N722S	N	-	2	0	AMBRA1	46472325	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.842000	0.39250	0.396000	0.25283	0.529000	0.55759	AAT		0.468	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000390103.1	NM_017749		C	46515749	T	C	46515749	3	2	697	1	0	0	0	0	1	0	0	0	565	1493	52	3	1587	3	AMBRA1	11	46515749	Missense_Mutation	SNP	T	TCGA-KL-8328-01A-11D-2310-10		46515749	88490767	47	38661											
RPS6KA4	8986	mdanderson.org	37	11	64127744	64127744	+	Silent	SNP	A	A	G	rs521950	byFrequency	TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr11:64127744A>G	ENST00000334205.4	+	3	302	c.237A>G	c.(235-237)caA>caG	p.Q79Q	RPS6KA4_ENST00000294261.4_Silent_p.Q79Q|RPS6KA4_ENST00000528057.1_Silent_p.Q79Q	NM_003942.2	NP_003933.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	79	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|negative regulation of cytokine production (GO:0001818)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|mitogen-activated protein kinase p38 binding (GO:0048273)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						CCAAGACGCAAGAGCACACGC	0.687													G|||	1350	0.269569	0.0499	0.4078	5008	,	,		15083	0.2083		0.4324	False		,,,				2504	0.364															0								G	,	434,3564		35,364,1600	12	10	10		237,237	3.1	1	11	dbSNP_83	10	2989,4947		559,1871,1538	no	coding-synonymous,coding-synonymous	RPS6KA4	NM_001006944.1,NM_003942.2	,	594,2235,3138	GG,GA,AA		37.6638,10.8554,28.6828	,	79/767,79/773	64127744	3423,8511	1999	3968	5967	SO:0001819	synonymous_variant	8986			AJ010119	CCDS8073.1, CCDS73313.1	11q11-q13	2011-04-05	2002-08-29		ENSG00000162302	ENSG00000162302			10433	protein-coding gene	gene with protein product		603606	"ribosomal protein S6 kinase, 90kD, polypeptide 4"			9792677, 9687510	Standard	XM_005274379		Approved	RSK-B, MSK2	uc001oae.3	O75676	OTTHUMG00000046094	ENST00000334205.4:c.237A>G	11.37:g.64127744A>G			A8K7Z8|O75585|Q53ES8	Silent	SNP	ENST00000334205.4	37	CCDS8073.1																																																																																				0.687	RPS6KA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106246.2	NM_003942		G	64127744	A	G	64127744	2	3	697	1	0	0	0	0	0	0	0	1	13659	69	3	3		3	RPS6KA4	11	64127744	Silent	SNP	A	TCGA-KL-8328-01A-11D-2310-10	17611995	64127744	70878772	48	38662											
RAB1B	81876	ucsc.edu	37	11	66043329	66043329	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr11:66043329G>A	ENST00000311481.6	+	5	481	c.334G>A	c.(334-336)Gag>Aag	p.E112K	RAB1B_ENST00000527397.1_Missense_Mutation_p.E80K|CNIH2_ENST00000311445.6_5'Flank|RP11-867G23.4_ENST00000528650.1_RNA|RP11-867G23.3_ENST00000501708.1_lincRNA|RP11-867G23.4_ENST00000526951.1_RNA|CNIH2_ENST00000528852.1_5'Flank	NM_030981.2	NP_112243.1	Q9H0U4	RAB1B_HUMAN	RAB1B, member RAS oncogene family	112					ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of glycoprotein metabolic process (GO:1903020)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|virion assembly (GO:0019068)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)			large_intestine(2)|lung(1)|ovary(1)|prostate(1)	5						CTATGCCAGCGAGAACGTCAA	0.577																																																0													32	31	31					11																	66043329		2199	4291	6490	SO:0001583	missense	81876			AJ245875	CCDS31613.1	11q13.1	2008-02-05			ENSG00000174903	ENSG00000174903		"RAB, member RAS oncogene"	18370	protein-coding gene	gene with protein product		612565				9030196	Standard	NM_030981		Approved		uc001ohf.3	Q9H0U4	OTTHUMG00000166916	ENST00000311481.6:c.334G>A	11.37:g.66043329G>A	ENSP00000310226:p.Glu112Lys		A8K7S1	Missense_Mutation	SNP	ENST00000311481.6	37	CCDS31613.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.273458	0.59649	.	.	ENSG00000174903	ENST00000311481;ENST00000527397;ENST00000394080	T;T	0.76839	-1.05;-1.05	4.53	4.53	0.55603	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.62804	0.2458	N	0.12637	0.245	0.80722	D	1	B	0.23891	0.093	B	0.18561	0.022	T	0.64305	-0.6439	10	0.72032	D	0.01	.	14.731	0.69383	0.0:0.0:1.0:0.0	.	112	Q9H0U4	RAB1B_HUMAN	K	112;80;112	ENSP00000310226:E112K;ENSP00000435195:E80K	ENSP00000310226:E112K	E	+	1	0	RAB1B	65799905	1.000000	0.71417	0.997000	0.53966	0.380000	0.30137	9.678000	0.98647	2.068000	0.61886	0.313000	0.20887	GAG		0.577	RAB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391886.2	NM_030981		A	66043329	G	A	66043329	3	1	697	1	0	0	0	0	1	0	0	0	12912	1059	37	1	352	1	RAB1B	11	66043329	Missense_Mutation	SNP	G	TCGA-KL-8328-01A-11D-2310-10	1915585	66043329	68963187	49	38663											
DSCAML1	57453	broad.mit.edu	37	11	117392079	117392079	+	Missense_Mutation	SNP	C	C	T	rs373292920		TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr11:117392079C>T	ENST00000321322.6	-	6	1160	c.1159G>A	c.(1159-1161)Ggc>Agc	p.G387S	DSCAML1_ENST00000527706.1_Missense_Mutation_p.G117S	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	327	Ig-like C2-type 4.				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)		CTGCCAATGCCGGTCTTCAGC	0.607													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17278	0.0		0.0	False		,,,				2504	0.0															0								C	SER/GLY	0,4402		0,0,2201	41	38	39		1159	4.5	1	11		39	4,8588	3.7+/-12.6	0,4,4292	no	missense	DSCAML1	NM_020693.2	56	0,4,6493	TT,TC,CC		0.0466,0.0,0.0308	possibly-damaging	387/2114	117392079	4,12990	2201	4296	6497	SO:0001583	missense	57453				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.1159G>A	11.37:g.117392079C>T	ENSP00000315465:p.Gly387Ser		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	C	11.38	1.622344	0.28889	0.0	4.66E-4	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.63744	-0.06;-0.06	4.5	4.5	0.54988	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.36441	0.0967	N	0.01576	-0.805	0.58432	D	0.999999	P;P	0.48089	0.607;0.905	B;B	0.43386	0.217;0.418	T	0.42258	-0.9462	9	0.11182	T	0.66	.	17.3845	0.87413	0.0:1.0:0.0:0.0	.	117;327	G3V1B5;Q8TD84	.;DSCL1_HUMAN	S	117;387;94	ENSP00000434335:G117S;ENSP00000315465:G387S	ENSP00000315465:G387S	G	-	1	0	DSCAML1	116897289	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	4.734000	0.62043	2.333000	0.79357	0.609000	0.83330	GGC		0.607	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		T	117392079	C	T	117392079	3	4	697	1	0	0	0	0	1	0	0	0	4771	652	23	1	5294	1	DSCAML1	11	117392079	Missense_Mutation	SNP	C	TCGA-KL-8328-01A-11D-2310-10	51348750	117392079	17614437	50	38664											
CHD4	1108	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	6701640	6701640	+	Missense_Mutation	SNP	C	C	A			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr12:6701640C>A	ENST00000357008.2	-	19	3030	c.2867G>T	c.(2866-2868)cGg>cTg	p.R956L	CHD4_ENST00000544040.1_Missense_Mutation_p.R949L|CHD4_ENST00000544484.1_Missense_Mutation_p.R953L|CHD4_ENST00000309577.6_Missense_Mutation_p.R956L	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	956					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						TTTGAGCCGCCGCAACATGTG	0.498																																					Colon(32;586 792 4568 16848 45314)											0													89	89	89					12																	6701640		2203	4300	6503	SO:0001583	missense	1108			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"Zinc fingers, PHD-type"	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.2867G>T	12.37:g.6701640C>A	ENSP00000349508:p.Arg956Leu		Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.918904	0.92249	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.96967	-4.19;-4.19;-4.19;-4.19	5.4	5.4	0.78164	SNF2-related (1);	0.056531	0.64402	D	0.000002	D	0.99077	0.9683	H	0.98769	4.325	0.80722	D	1	D;D;P	0.89917	0.999;1.0;0.932	D;D;P	0.97110	0.996;1.0;0.675	D	0.99047	1.0826	10	0.87932	D	0	.	19.1812	0.93623	0.0:1.0:0.0:0.0	.	956;956;949	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	L	953;949;956;956;930	ENSP00000440392:R953L;ENSP00000440542:R949L;ENSP00000312419:R956L;ENSP00000349508:R956L	ENSP00000312419:R956L	R	-	2	0	CHD4	6571901	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	7.792000	0.85828	2.530000	0.85305	0.563000	0.77884	CGG		0.498	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		A	6701640	C	A	6701640	3	1	697	1	0	0	0	0	1	0	0	0	3329	652	23	4	2959	4	CHD4	12	6701640	Missense_Mutation	SNP	C	TCGA-KL-8328-01A-11D-2310-10		6701640	127150255	51	38665											
DUSP16	80824	broad.mit.edu	37	12	12630273	12630273	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr12:12630273A>G	ENST00000228862.2	-	7	2123	c.1492T>C	c.(1492-1494)Tcc>Ccc	p.S498P	DUSP16_ENST00000298573.4_3'UTR|DUSP16_ENST00000545864.1_5'Flank	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	498					dephosphorylation (GO:0016311)|inactivation of MAPK activity (GO:0000188)|MAPK export from nucleus (GO:0045204)|MAPK phosphatase export from nucleus, leptomycin B sensitive (GO:0045209)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		GATAAAAGGGACCTCTGGGCG	0.582																																					Ovarian(158;443 1896 15437 36069 46477)											0													71	71	71					12																	12630273		2203	4300	6503	SO:0001583	missense	80824			AB052156	CCDS8650.1	12p13	2011-06-09				ENSG00000111266		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	17909	protein-coding gene	gene with protein product	"MAPK phosphatase-7"	607175				11359773, 11489891, 15888437	Standard	NM_030640		Approved	MKP-7, KIAA1700, MKP7	uc001rao.2	Q9BY84		ENST00000228862.2:c.1492T>C	12.37:g.12630273A>G	ENSP00000228862:p.Ser498Pro		Q547C7|Q96QS2|Q9C0G3	Missense_Mutation	SNP	ENST00000228862.2	37	CCDS8650.1	.	.	.	.	.	.	.	.	.	.	A	2.707	-0.269691	0.05716	.	.	ENSG00000111266	ENST00000228862	T	0.02015	4.5	5.27	-9.11	0.00711	.	1.150150	0.06307	N	0.702034	T	0.01061	0.0035	N	0.03324	-0.35	0.43902	D	0.996538	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.49390	-0.8945	10	0.20046	T	0.44	.	10.3793	0.44101	0.2491:0.4277:0.3233:0.0	.	498;498	Q9BY84;Q96N49	DUS16_HUMAN;.	P	498	ENSP00000228862:S498P	ENSP00000228862:S498P	S	-	1	0	DUSP16	12521540	0.000000	0.05858	0.004000	0.12327	0.035000	0.12851	-2.226000	0.01211	-1.560000	0.01686	-0.250000	0.11733	TCC		0.582	DUSP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400311.1	NM_030640		G	12630273	A	G	12630273	3	3	697	1	0	0	0	0	1	0	0	0	4818	275	10	3	509	3	DUSP16	12	12630273	Missense_Mutation	SNP	A	TCGA-KL-8328-01A-11D-2310-10	5928633	12630273	121221622	52	38666											
ANO6	196527	mdanderson.org	37	12	45725162	45725162	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr12:45725162A>G	ENST00000320560.8	+	3	437	c.235A>G	c.(235-237)Agc>Ggc	p.S79G	ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000425752.2_Missense_Mutation_p.S79G|ANO6_ENST00000441606.2_Missense_Mutation_p.S61G|ANO6_ENST00000435642.1_Missense_Mutation_p.S79G|ANO6_ENST00000423947.3_Missense_Mutation_p.S100G	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	79					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						TGAGGATGAAAGCAGAAAAGA	0.303																																																0													76	80	78					12																	45725162		2203	4299	6502	SO:0001583	missense	196527			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.235A>G	12.37:g.45725162A>G	ENSP00000320087:p.Ser79Gly		A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Missense_Mutation	SNP	ENST00000320560.8	37	CCDS31782.1	.	.	.	.	.	.	.	.	.	.	A	10.45	1.352937	0.24512	.	.	ENSG00000177119	ENST00000425752;ENST00000423947;ENST00000435642;ENST00000320560;ENST00000441606	T;T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36;-0.36	5.17	1.24	0.21308	.	0.364642	0.32416	N	0.006135	T	0.51702	0.1690	L	0.50333	1.59	0.31878	N	0.618855	B;B;B;B	0.26672	0.004;0.01;0.156;0.008	B;B;B;B	0.17098	0.017;0.017;0.016;0.005	T	0.49679	-0.8914	10	0.22706	T	0.39	.	7.1651	0.25685	0.6484:0.2749:0.0767:0.0	.	61;100;79;79	E9PB30;B9EGG0;E9PCT2;Q4KMQ2	.;.;.;ANO6_HUMAN	G	79;100;79;79;61	ENSP00000391417:S79G;ENSP00000409126:S100G;ENSP00000413840:S79G;ENSP00000320087:S79G;ENSP00000413137:S61G	ENSP00000320087:S79G	S	+	1	0	ANO6	44011429	0.998000	0.40836	0.935000	0.37517	0.905000	0.53344	2.285000	0.43487	0.483000	0.27608	0.482000	0.46254	AGC		0.303	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404822.1	XM_113743		G	45725162	A	G	45725162	3	3	697	1	0	0	0	0	1	0	0	0	701	72	3	3	265	3	ANO6	12	45725162	Missense_Mutation	SNP	A	TCGA-KL-8328-01A-11D-2310-10	33094889	45725162	88126733	53	38667											
GALNT6	11226	broad.mit.edu	37	12	51752937	51752937	+	Missense_Mutation	SNP	C	C	G			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr12:51752937C>G	ENST00000543196.2	-	7	1552	c.1347G>C	c.(1345-1347)caG>caC	p.Q449H	GALNT6_ENST00000356317.3_Missense_Mutation_p.Q449H			Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	449					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						TCTTTGCTGCCTGCAGATTTC	0.522																																																0													179	199	192					12																	51752937		2203	4300	6503	SO:0001583	missense	11226			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.1347G>C	12.37:g.51752937C>G	ENSP00000444171:p.Gln449His		Q8IYH4|Q9H6G2|Q9UIV5	Missense_Mutation	SNP	ENST00000543196.2	37	CCDS8813.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.739970	0.30865	.	.	ENSG00000139629	ENST00000543196;ENST00000356317;ENST00000546163	T;T	0.59083	0.29;0.29	4.26	-0.848	0.10727	.	0.836851	0.10439	N	0.674486	T	0.43765	0.1262	N	0.25825	0.765	0.38323	D	0.943575	B	0.32543	0.375	B	0.40534	0.332	T	0.35400	-0.9790	10	0.31617	T	0.26	.	5.315	0.15850	0.131:0.4741:0.0:0.395	.	449	Q8NCL4	GALT6_HUMAN	H	449;449;430	ENSP00000444171:Q449H;ENSP00000348668:Q449H	ENSP00000348668:Q449H	Q	-	3	2	GALNT6	50039204	0.001000	0.12720	0.665000	0.29768	0.965000	0.64279	-1.549000	0.02182	-0.156000	0.11079	-0.258000	0.10820	CAG		0.522	GALNT6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469735.1	NM_007210		G	51752937	C	G	51752937	3	3	697	1	0	0	0	0	1	0	0	0	6219	680	24	4	541	4	GALNT6	12	51752937	Missense_Mutation	SNP	C	TCGA-KL-8328-01A-11D-2310-10	6027775	51752937	82098958	54	38668											
E2F7	144455	broad.mit.edu	37	12	77419489	77419490	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	TT	TT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr12:77419489_77419490delTT	ENST00000322886.7	-	12	2648_2649	c.2413_2414delAA	c.(2413-2415)aagfs	p.K805fs	E2F7_ENST00000416496.2_Intron	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	805					chorionic trophoblast cell differentiation (GO:0060718)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hepatocyte differentiation (GO:0070365)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokinesis (GO:0032466)|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 involved in G1/S transition of mitotic cell cycle (GO:0071930)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|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)			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						TGTGGACGACTTTGGATTAACC	0.53																																																0																																										SO:0001589	frameshift_variant	144455			BC016658	CCDS9016.1	12q21.1	2008-02-05				ENSG00000165891			23820	protein-coding gene	gene with protein product		612046				12893818	Standard	NM_203394		Approved		uc001sym.4	Q96AV8	OTTHUMG00000169969	ENST00000322886.7:c.2413_2414delAA	12.37:g.77419489_77419490delTT	ENSP00000323246:p.Lys805fs		A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Frame_Shift_Del	DEL	ENST00000322886.7	37	CCDS9016.1																																																																																				0.53	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406716.1	XM_084871		-	77419490	TT	-	77419489	7	5	697	1	0	1	0	1	0	0	0	0	4874	1609	56	0	329	0	E2F7	12	77419489	Frame_Shift_Del	DEL	TT	TCGA-KL-8328-01A-11D-2310-10	25666552	77419489	56432406	55	38669											
IKBIP	121457	mdanderson.org	37	12	99020139	99020139	+	Intron	SNP	T	T	C			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr12:99020139T>C	ENST00000342502.2	-	2	709				IKBIP_ENST00000420861.1_Intron|IKBIP_ENST00000393042.3_Intron|IKBIP_ENST00000299157.4_Missense_Mutation_p.T235A	NM_201612.2	NP_963906.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein						response to X-ray (GO:0010165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						ATTGCCTTTGTATCAGAGCCT	0.398																																																0													141	135	137					12																	99020139		2203	4300	6503	SO:0001627	intron_variant	121457			AJ539425	CCDS9067.1, CCDS9068.1, CCDS41822.1	12q23.1	2010-02-17			ENSG00000166130	ENSG00000166130			26430	protein-coding gene	gene with protein product	"I kappa B kinase interacting protein"	609861				15389287	Standard	NM_153687		Approved	FLJ31051, IKIP	uc001tfx.4	Q70UQ0	OTTHUMG00000170213	ENST00000342502.2:c.297+7934A>G	12.37:g.99020139T>C			Q6ZWH4|Q70UP9|Q86V91|Q96ND2	Missense_Mutation	SNP	ENST00000342502.2	37	CCDS9067.1	.	.	.	.	.	.	.	.	.	.	T	10.48	1.362014	0.24684	.	.	ENSG00000166130	ENST00000299157	T	0.49432	0.78	5.59	0.294	0.15747	.	0.465264	0.24143	N	0.041153	T	0.26810	0.0656	.	.	.	0.80722	D	1	B	0.09022	0.002	B	0.11329	0.006	T	0.04593	-1.0940	9	0.19590	T	0.45	-3.0795	5.3045	0.15795	0.128:0.3427:0.0:0.5293	.	235	Q70UQ0-4	.	A	235	ENSP00000299157:T235A	ENSP00000299157:T235A	T	-	1	0	IKBIP	97544270	0.968000	0.33430	0.788000	0.31933	0.518000	0.34316	0.767000	0.26575	0.086000	0.17137	0.528000	0.53228	ACA		0.398	IKBIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000408003.2	NM_153687		C	99020139	T	C	99020139	1	2	697	0	1	0	0	0	0	0	0	0	7611	1638	57	3		3	IKBIP	12	99020139	Intron	SNP	T	TCGA-KL-8328-01A-11D-2310-10	21600650	99020139	34831756	56	38670											
FREM2	341640	broad.mit.edu	37	13	39446906	39446906	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr13:39446906A>G	ENST00000280481.7	+	17	8227	c.8011A>G	c.(8011-8013)Acc>Gcc	p.T2671A		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2671					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)		GTCCTATGTGACCCTTCGAGT	0.443																																																0													165	154	158					13																	39446906		2203	4300	6503	SO:0001583	missense	341640			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.8011A>G	13.37:g.39446906A>G	ENSP00000280481:p.Thr2671Ala		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.802831	0.90623	.	.	ENSG00000150893	ENST00000280481	T	0.28895	1.59	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.44350	0.1289	M	0.83012	2.62	0.80722	D	1	P	0.45212	0.853	B	0.43052	0.406	T	0.54084	-0.8346	10	0.87932	D	0	.	16.1146	0.81295	1.0:0.0:0.0:0.0	.	2671	Q5SZK8	FREM2_HUMAN	A	2671	ENSP00000280481:T2671A	ENSP00000280481:T2671A	T	+	1	0	FREM2	38344906	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.309000	0.96252	2.200000	0.70718	0.460000	0.39030	ACC		0.443	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		G	39446906	A	G	39446906	3	3	697	1	0	0	0	0	1	0	0	0	6047	275	10	3	8077	3	FREM2	13	39446906	Missense_Mutation	SNP	A	TCGA-KL-8328-01A-11D-2310-10		39446906	75722972	57	38671											
POTEG	404785	mdanderson.org	37	14	19553653	19553653	+	Silent	SNP	C	C	T	rs201360940		TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr14:19553653C>T	ENST00000409832.3	+	1	289	c.237C>T	c.(235-237)aaC>aaT	p.N79N		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	79										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GCAAGAGCAACGTGGGCACTT	0.602																																																0													100	129	119					14																	19553653		1939	3935	5874	SO:0001819	synonymous_variant	404785				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.237C>T	14.37:g.19553653C>T			A1L153|A6NMI9|Q6S5H6|Q6S8J2	Silent	SNP	ENST00000409832.3	37	CCDS32018.1																																																																																				0.602	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		T	19553653	C	T	19553653	2	4	697	1	0	0	0	0	0	0	0	1	12268	535	19	1		1	POTEG	14	19553653	Silent	SNP	C	TCGA-KL-8328-01A-11D-2310-10		19553653	87795887	58	38672											
PNP	4860	broad.mit.edu;bcgsc.ca	37	14	20944680	20944680	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr14:20944680G>A	ENST00000361505.5	+	6	936	c.790G>A	c.(790-792)Ggc>Agc	p.G264S	RP11-203M5.8_ENST00000554678.1_lincRNA	NM_000270.3	NP_000261.2	P01298	PAHO_HUMAN	purine nucleoside phosphorylase	0					digestion (GO:0007586)|protein secretion (GO:0009306)	extracellular region (GO:0005576)	hormone activity (GO:0005179)|receptor binding (GO:0005102)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(2)	10						CTTAGCAGCTGGCAAACAAGC	0.483																																																0													106	97	100					14																	20944680		2203	4300	6503	SO:0001583	missense	4860				CCDS9552.1	14q11.2	2014-09-17	2009-12-02	2009-12-02	ENSG00000198805	ENSG00000198805	2.4.2.1		7892	protein-coding gene	gene with protein product		164050	"nucleoside phosphorylase"	NP		6087295	Standard	NM_000270		Approved	PUNP	uc001vxo.4	P00491	OTTHUMG00000029546	ENST00000361505.5:c.790G>A	14.37:g.20944680G>A	ENSP00000354532:p.Gly264Ser			Missense_Mutation	SNP	ENST00000361505.5	37	CCDS9552.1	.	.	.	.	.	.	.	.	.	.	G	8.277	0.814701	0.16607	.	.	ENSG00000198805	ENST00000361505	D	0.93189	-3.18	4.88	3.99	0.46301	Nucleoside phosphorylase domain (1);	0.212230	0.48767	D	0.000161	D	0.88306	0.6401	L	0.42632	1.34	0.49915	D	0.999834	B	0.02656	0.0	B	0.11329	0.006	T	0.81837	-0.0749	10	0.18710	T	0.47	-14.0071	9.415	0.38517	0.1721:0.0:0.8279:0.0	.	264	P00491	PNPH_HUMAN	S	264	ENSP00000354532:G264S	ENSP00000354532:G264S	G	+	1	0	PNP	20014520	1.000000	0.71417	0.593000	0.28771	0.128000	0.20619	3.182000	0.50910	1.281000	0.44480	-0.137000	0.14449	GGC		0.483	PNP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073646.2	NM_000270.2		A	20944680	G	A	20944680	3	1	697	1	0	0	0	0	1	0	0	0	12165	1348	47	2	812	2	PNP	14	20944680	Missense_Mutation	SNP	G	TCGA-KL-8328-01A-11D-2310-10	1391027	20944680	86404860	59	38673											
ISM2	145501	mdanderson.org	37	14	77942316	77942316	+	Silent	SNP	G	G	A	rs3742732	byFrequency	TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr14:77942316G>A	ENST00000342219.4	-	7	1394	c.1338C>T	c.(1336-1338)gaC>gaT	p.D446D	ISM2_ENST00000429906.1_Silent_p.D365D|ISM2_ENST00000493585.1_3'UTR|ISM2_ENST00000393684.3_Silent_p.D358D|ISM2_ENST00000412904.1_Silent_p.D365D	NM_199296.2	NP_954993.1	Q6H9L7	ISM2_HUMAN	isthmin 2	446	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						CCTGGTGCTCGTCCTGTAGGC	0.652													G|||	322	0.0642971	0.0363	0.1571	5008	,	,		17437	0.0149		0.0765	False		,,,				2504	0.0746															0								G	,	210,4196	127.8+/-164.7	6,198,1999	36	38	37		,1338	-3	0.3	14	dbSNP_107	37	775,7825	179.2+/-228.4	32,711,3557	no	utr-3,coding-synonymous	ISM2	NM_182509.3,NM_199296.2	,	38,909,5556	AA,AG,GG		9.0116,4.7662,7.5734	,	,446/572	77942316	985,12021	2203	4300	6503	SO:0001819	synonymous_variant	145501			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.1338C>T	14.37:g.77942316G>A			A8K6D5|O95432|Q495U5|Q68CN3|Q86TQ7|Q86TW3|Q86TW4|Q8N501|Q8NBL0	Silent	SNP	ENST00000342219.4	37	CCDS9864.1																																																																																				0.652	ISM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351309.1	NM_182509		A	77942316	G	A	77942316	2	1	697	1	0	0	0	0	0	0	0	1	7863	1136	40	1		1	ISM2	14	77942316	Silent	SNP	G	TCGA-KL-8328-01A-11D-2310-10	56997636	77942316	29407224	60	38674											
SPATA7	55812	bcgsc.ca	37	14	88892586	88892586	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr14:88892586A>G	ENST00000393545.4	+	6	672	c.383A>G	c.(382-384)gAa>gGa	p.E128G	SPATA7_ENST00000556553.1_Missense_Mutation_p.E96G|SPATA7_ENST00000356583.5_Missense_Mutation_p.E96G|SPATA7_ENST00000045347.7_Missense_Mutation_p.E128G	NM_018418.4	NP_060888.2	Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	128					response to stimulus (GO:0050896)|visual perception (GO:0007601)					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						CCCTCAGGCGAACCGCAAATT	0.373																																																0													43	41	42					14																	88892586		2203	4300	6503	SO:0001583	missense	55812			AF144487	CCDS9883.1, CCDS32132.1	14q31.3	2011-02-17				ENSG00000042317			20423	protein-coding gene	gene with protein product		609868	"Leber congenital amaurosis 3"	LCA3		9799089, 19268277	Standard	NM_018418		Approved	HSD3	uc001xwq.3	Q9P0W8		ENST00000393545.4:c.383A>G	14.37:g.88892586A>G	ENSP00000377176:p.Glu128Gly		Q5BKY5|Q8WX30|Q96HF3|Q9H0X0|Q9P0W7	Missense_Mutation	SNP	ENST00000393545.4	37	CCDS9883.1	.	.	.	.	.	.	.	.	.	.	A	15.18	2.757492	0.49468	.	.	ENSG00000042317	ENST00000556553;ENST00000393545;ENST00000356583;ENST00000555401;ENST00000553885;ENST00000045347	T;T;T;T;T;T	0.20738	2.05;2.05;2.05;2.05;2.05;2.05	5.38	5.38	0.77491	.	0.062767	0.64402	D	0.000006	T	0.45418	0.1341	M	0.70595	2.14	0.37018	D	0.896074	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.974	T	0.53913	-0.8371	10	0.56958	D	0.05	-24.6762	13.6381	0.62233	1.0:0.0:0.0:0.0	.	96;128	Q9P0W8-2;Q9P0W8	.;SPAT7_HUMAN	G	96;128;96;71;114;128	ENSP00000451128:E96G;ENSP00000377176:E128G;ENSP00000348991:E96G;ENSP00000452435:E71G;ENSP00000450606:E114G;ENSP00000045347:E128G	ENSP00000045347:E128G	E	+	2	0	SPATA7	87962339	0.995000	0.38212	0.959000	0.39883	0.072000	0.16883	4.827000	0.62723	2.159000	0.67721	0.528000	0.53228	GAA		0.373	SPATA7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410172.1			G	88892586	A	G	88892586	3	3	697	1	0	0	0	0	1	0	0	0	15019	246	9	3	405	3	SPATA7	14	88892586	Missense_Mutation	SNP	A	TCGA-KL-8328-01A-11D-2310-10	10950270	88892586	18456954	61	38675											
C14orf142	84520	broad.mit.edu;mdanderson.org	37	14	93670052	93670052	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr14:93670052C>T	ENST00000306954.4	-	2	340	c.284G>A	c.(283-285)cGg>cAg	p.R95Q	RP11-371E8.4_ENST00000557048.1_Intron|RP11-371E8.4_ENST00000557574.1_Intron	NM_032490.4	NP_115879.2	Q9BXV9	CN142_HUMAN	chromosome 14 open reading frame 142	95										endometrium(1)|skin(1)	2		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.177)|all cancers(159;0.198)|COAD - Colon adenocarcinoma(157;0.203)		TGTTTTTGGCCGTTTTGCAGA	0.338																																																0													260	242	248					14																	93670052		1921	4144	6065	SO:0001583	missense	84520			AF277185	CCDS41981.1	14q32.12	2012-09-25			ENSG00000170270	ENSG00000170270			20356	protein-coding gene	gene with protein product							Standard	NM_032490		Approved		uc001ybl.1	Q9BXV9	OTTHUMG00000171267	ENST00000306954.4:c.284G>A	14.37:g.93670052C>T	ENSP00000306320:p.Arg95Gln		Q0D2N1|Q0P6C4|Q3B7W5	Missense_Mutation	SNP	ENST00000306954.4	37	CCDS41981.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.441495	0.83993	.	.	ENSG00000170270	ENST00000306954;ENST00000556566	.	.	.	5.33	4.44	0.53790	.	.	.	.	.	T	0.24198	0.0586	N	0.24115	0.695	0.26450	N	0.97563	P	0.51057	0.941	B	0.39027	0.288	T	0.06881	-1.0802	8	0.62326	D	0.03	-0.4036	10.2431	0.43324	0.0:0.9089:0.0:0.0911	.	95	Q9BXV9	CN142_HUMAN	Q	95;66	.	ENSP00000306320:R95Q	R	-	2	0	C14orf142	92739805	0.994000	0.37717	0.992000	0.48379	0.989000	0.77384	2.733000	0.47360	1.389000	0.46526	0.655000	0.94253	CGG		0.338	C14orf142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412691.1	NM_032490		T	93670052	C	T	93670052	3	4	697	1	0	0	0	0	1	0	0	0	1749	652	23	1	22	1	C14orf142	14	93670052	Missense_Mutation	SNP	C	TCGA-KL-8328-01A-11D-2310-10	4777466	93670052	13679488	62	38676											
KIAA0284	283638	mdanderson.org	37	14	105349388	105349388	+	Silent	SNP	A	A	C	rs2028414	byFrequency	TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr14:105349388A>C	ENST00000414716.3	+	8	822	c.594A>C	c.(592-594)ccA>ccC	p.P198P	CEP170B_ENST00000418279.1_Silent_p.P128P|CEP170B_ENST00000453495.1_Silent_p.P199P|CEP170B_ENST00000556508.1_Silent_p.P128P	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	198						cytoplasm (GO:0005737)|microtubule (GO:0005874)											CCAAGGGACCAGTGCAGCAGG	0.672													g|||	2589	0.516973	0.5174	0.5865	5008	,	,		12916	0.2302		0.669	False		,,,				2504	0.6063															0									,	2039,1829		591,857,486	5	7	7		594,384	-5.3	0	14	dbSNP_94	7	5324,2774		1859,1606,584	no	coding-synonymous,coding-synonymous	KIAA0284	NM_001112726.2,NM_015005.2	,	2450,2463,1070	CC,CA,AA		34.2554,47.2854,38.4673	,	198/1555,128/1520	105349388	7363,4603	1934	4049	5983	SO:0001819	synonymous_variant	283638			AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"Cep170-related"		"KIAA0284"	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.594A>C	14.37:g.105349388A>C			Q2KHR7|Q86TI7	Silent	SNP	ENST00000414716.3	37	CCDS45175.1																																																																																				0.672	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2	NM_001112726		C	105349388	A	C	105349388	2	2	697	1	0	0	0	0	0	0	0	1	8168	175	7	5		5	KIAA0284	14	105349388	Silent	SNP	A	TCGA-KL-8328-01A-11D-2310-10	11679336	105349388	2000152	63	38677											
AHNAK2	113146	mdanderson.org	37	14	105418155	105418155	+	Silent	SNP	G	G	C	rs141600524		TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr14:105418155G>C	ENST00000333244.5	-	7	3752	c.3633C>G	c.(3631-3633)ctC>ctG	p.L1211L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1211						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)			GCTGAATGCTGAGGTCAGTGG	0.647																																																0								G		80,3750		19,42,1854	104	78	86		3633	-6	0	14	dbSNP_134	86	913,6543		290,333,3105	no	coding-synonymous	AHNAK2	NM_138420.2		309,375,4959	CC,CG,GG		12.2452,2.0888,8.7985		1211/5796	105418155	993,10293	1915	3728	5643	SO:0001819	synonymous_variant	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.3633C>G	14.37:g.105418155G>C			Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																				0.647	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		C	105418155	G	C	105418155	2	2	697	1	0	0	0	0	0	0	0	1	415	1277	45	4		4	AHNAK2	14	105418155	Silent	SNP	G	TCGA-KL-8328-01A-11D-2310-10	68767	105418155	1931385	64	38678											
MYO1E	4643	mdanderson.org	37	15	59466112	59466112	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr15:59466112A>G	ENST00000288235.4	-	21	2566	c.2167T>C	c.(2167-2169)Tca>Cca	p.S723P	MIR2116_ENST00000517221.1_RNA	NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	723	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.|Myosin tail. {ECO:0000255}.				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)		AAGAGGTCTGAGGCTACAATT	0.403																																																0													135	145	142					15																	59466112		2191	4291	6482	SO:0001583	missense	4643			U14391	CCDS32254.1	15q21-q22	2011-09-27				ENSG00000157483		"Myosins / Myosin superfamily : Class I"	7599	protein-coding gene	gene with protein product	"myosin-IC"	601479				8884266	Standard	NM_004998		Approved	MYO1C, HuncM-IC, MGC104638	uc002aga.4	Q12965		ENST00000288235.4:c.2167T>C	15.37:g.59466112A>G	ENSP00000288235:p.Ser723Pro		Q14778	Missense_Mutation	SNP	ENST00000288235.4	37	CCDS32254.1	.	.	.	.	.	.	.	.	.	.	A	19.19	3.779860	0.70222	.	.	ENSG00000157483	ENST00000288235	T	0.39229	1.09	5.18	5.18	0.71444	Myosin tail 2 (1);	0.000000	0.85682	D	0.000000	T	0.69548	0.3123	M	0.90814	3.15	0.80722	D	1	D	0.61697	0.99	D	0.69142	0.962	T	0.76022	-0.3111	10	0.54805	T	0.06	.	15.1913	0.73047	1.0:0.0:0.0:0.0	.	723	Q12965	MYO1E_HUMAN	P	723	ENSP00000288235:S723P	ENSP00000288235:S723P	S	-	1	0	MYO1E	57253404	1.000000	0.71417	1.000000	0.80357	0.428000	0.31595	9.126000	0.94411	2.165000	0.68154	0.533000	0.62120	TCA		0.403	MYO1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416024.1	NM_004998		G	59466112	A	G	59466112	3	3	697	1	0	0	0	0	1	0	0	0	10074	304	11	3	1191	3	MYO1E	15	59466112	Missense_Mutation	SNP	A	TCGA-KL-8328-01A-11D-2310-10		59466112	43065280	65	38679											
USP3	9960	broad.mit.edu;mdanderson.org	37	15	63866525	63866525	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr15:63866525T>C	ENST00000380324.3	+	11	1148	c.1019T>C	c.(1018-1020)cTt>cCt	p.L340P	USP3_ENST00000559711.1_Missense_Mutation_p.L251P|USP3-AS1_ENST00000560350.1_RNA|USP3_ENST00000540797.1_Missense_Mutation_p.L296P|USP3_ENST00000539772.1_Missense_Mutation_p.L91P|USP3_ENST00000536001.1_3'UTR|USP3-AS1_ENST00000559357.1_RNA|USP3-AS1_ENST00000559861.1_RNA|USP3_ENST00000558285.1_Missense_Mutation_p.L323P|USP3_ENST00000268049.7_Missense_Mutation_p.L318P	NM_006537.3	NP_006528.2	Q9Y6I4	UBP3_HUMAN	ubiquitin specific peptidase 3	340	USP.				DNA repair (GO:0006281)|histone deubiquitination (GO:0016578)|mitotic cell cycle (GO:0000278)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	nuclear chromatin (GO:0000790)	histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(7)|lung(4)	14				GBM - Glioblastoma multiforme(80;0.0187)		TTTTAAGACCTTTCATTAGAT	0.338																																																0													109	108	108					15																	63866525		2203	4300	6503	SO:0001583	missense	9960			AF073344	CCDS32265.1, CCDS58370.1	15q22.3	2008-04-11	2005-08-08			ENSG00000140455		"Ubiquitin-specific peptidases"	12626	protein-coding gene	gene with protein product		604728	"ubiquitin specific protease 3"			12838346	Standard	NM_006537		Approved		uc002amf.4	Q9Y6I4		ENST00000380324.3:c.1019T>C	15.37:g.63866525T>C	ENSP00000369681:p.Leu340Pro		B4DVU5|F5H1A6|Q8WVD0	Missense_Mutation	SNP	ENST00000380324.3	37	CCDS32265.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.567491	0.86439	.	.	ENSG00000140455	ENST00000540797;ENST00000380324;ENST00000268049;ENST00000539772;ENST00000536848;ENST00000538686	T;T;T;T	0.05025	3.51;3.51;3.51;3.51	5.84	5.84	0.93424	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.36110	0.0955	M	0.93197	3.39	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;0.999;0.999;0.999	T	0.49214	-0.8963	10	0.87932	D	0	.	16.2055	0.82126	0.0:0.0:0.0:1.0	.	296;296;318;340	F5H1A6;B4DVU5;Q6JHV3;Q9Y6I4	.;.;.;UBP3_HUMAN	P	296;340;318;91;255;171	ENSP00000445828:L296P;ENSP00000369681:L340P;ENSP00000268049:L318P;ENSP00000445642:L91P	ENSP00000268049:L318P	L	+	2	0	USP3	61653578	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.698000	0.84413	2.226000	0.72624	0.482000	0.46254	CTT		0.338	USP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417773.1			C	63866525	T	C	63866525	3	2	697	1	0	0	0	0	1	0	0	0	17065	1609	56	3	1061	3	USP3	15	63866525	Missense_Mutation	SNP	T	TCGA-KL-8328-01A-11D-2310-10	4400413	63866525	38664867	66	38680											
ANP32A	8125	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	15	69079816	69079816	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr15:69079816G>A	ENST00000465139.2	-	3	406	c.263C>T	c.(262-264)cCg>cTg	p.P88L	ANP32A_ENST00000483551.2_5'UTR|ANP32A_ENST00000560303.1_Missense_Mutation_p.P88L	NM_006305.3	NP_006296.1	P39687	AN32A_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member A	88					gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA metabolic process (GO:0016071)|nucleocytoplasmic transport (GO:0006913)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(2)	4						CGTGAGGTTCGGACACTTTTC	0.453																																																0													107	115	112					15																	69079816		2200	4298	6498	SO:0001583	missense	8125			AF025684	CCDS45292.1	15q23	2008-05-14			ENSG00000140350	ENSG00000140350		"ANP32 acidic nuclear phosphoproteins"	13233	protein-coding gene	gene with protein product		600832		C15orf1		8970164, 9144194	Standard	NM_006305		Approved	LANP, PP32, I1PP2A, PHAPI, MAPM, mapmodulin	uc002arl.3	P39687	OTTHUMG00000154502	ENST00000465139.2:c.263C>T	15.37:g.69079816G>A	ENSP00000417864:p.Pro88Leu		B2R6T4|Q53FK4|Q5J8L8|Q7M4N6	Missense_Mutation	SNP	ENST00000465139.2	37	CCDS45292.1	.	.	.	.	.	.	.	.	.	.	G	37	6.477195	0.97598	.	.	ENSG00000140350	ENST00000358235;ENST00000465139	T	0.64085	-0.08	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.80476	0.4630	M	0.92268	3.29	0.80722	D	1	D	0.59767	0.986	P	0.53360	0.724	D	0.85654	0.1284	10	0.87932	D	0	.	18.6073	0.91271	0.0:0.0:1.0:0.0	.	88	P39687	AN32A_HUMAN	L	88	ENSP00000417864:P88L	ENSP00000350970:P88L	P	-	2	0	ANP32A	66866870	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.611000	0.98342	2.640000	0.89533	0.655000	0.94253	CCG		0.453	ANP32A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335525.2			A	69079816	G	A	69079816	3	1	697	1	0	0	0	0	1	0	0	0	705	1116	39	1	506	1	ANP32A	15	69079816	Missense_Mutation	SNP	G	TCGA-KL-8328-01A-11D-2310-10	5213291	69079816	33451576	67	38681											
KIAA1199	57214	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	15	81216982	81216982	+	Silent	SNP	C	C	T			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr15:81216982C>T	ENST00000394685.3	+	18	2642	c.2223C>T	c.(2221-2223)aaC>aaT	p.N741N	KIAA1199_ENST00000356249.5_Silent_p.N741N|RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000220244.3_Silent_p.N741N			Q8WUJ3	CEMIP_HUMAN		741					hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605)	clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TCATAGACAACGGAGTCAAAA	0.527																																																0													116	96	102					15																	81216982		2203	4300	6503	SO:0001819	synonymous_variant	57214																														ENST00000394685.3:c.2223C>T	15.37:g.81216982C>T			Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Silent	SNP	ENST00000394685.3	37	CCDS10315.1																																																																																				0.527	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291389.1			T	81216982	C	T	81216982	2	4	697	1	0	0	0	0	0	0	0	1	8215	535	19	1		1	KIAA1199	15	81216982	Silent	SNP	C	TCGA-KL-8328-01A-11D-2310-10	12137166	81216982	21314410	68	38682											
MEF2A	4205	hgsc.bcm.edu	37	15	100250958	100250958	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr15:100250958T>C	ENST00000557785.1	+	10	1454	c.1105T>C	c.(1105-1107)Tct>Cct	p.S369P	MEF2A_ENST00000449277.2_Missense_Mutation_p.S301P|MEF2A_ENST00000354410.5_Missense_Mutation_p.S371P|MEF2A_ENST00000338042.6_Missense_Mutation_p.S378P|MEF2A_ENST00000557942.1_Missense_Mutation_p.S377P|MEF2A_ENST00000558812.1_Missense_Mutation_p.S309P|MEF2A_ENST00000453228.2_Missense_Mutation_p.S369P	NM_001171894.1	NP_001165365.1	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	379					apoptotic process (GO:0006915)|cardiac conduction (GO:0061337)|cellular response to calcium ion (GO:0071277)|dendrite morphogenesis (GO:0048813)|ERK5 cascade (GO:0070375)|heart development (GO:0007507)|innate immune response (GO:0045087)|MAPK cascade (GO:0000165)|mitochondrial genome maintenance (GO:0000002)|mitochondrion distribution (GO:0048311)|muscle cell differentiation (GO:0042692)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|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)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac myofibril assembly (GO:0055005)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|protein heterodimerization activity (GO:0046982)|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 coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|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)|SMAD binding (GO:0046332)	p.S379T(1)		endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			AGCCCTCAGCTCTCTTGTGTG	0.527																																																1	Substitution - Missense(1)	ovary(1)											45	47	46					15																	100250958		2051	4204	6255	SO:0001583	missense	4205				CCDS45362.1, CCDS45363.1, CCDS53978.1, CCDS58401.1	15q26	2008-02-05	2007-04-24			ENSG00000068305		"Myocyte enhancer factors"	6993	protein-coding gene	gene with protein product		600660				1516833	Standard	NM_005587		Approved	RSRFC4, RSRFC9	uc002bvf.3	Q02078		ENST00000557785.1:c.1105T>C	15.37:g.100250958T>C	ENSP00000453441:p.Ser369Pro		B4DFQ7|F6XG23|O43814|Q14223|Q14224|Q59GX4|Q7Z6C9|Q96D14	Missense_Mutation	SNP	ENST00000557785.1	37	CCDS53978.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.619364	0.87460	.	.	ENSG00000068305	ENST00000453228;ENST00000354410;ENST00000338042;ENST00000449277	T;T;T;T	0.10763	2.84;2.84;2.84;3.1	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.23806	0.0576	L	0.34521	1.04	0.43377	D	0.995477	D;D;D;D;D;D	0.89917	0.998;0.998;0.99;1.0;0.999;0.997	D;D;D;D;D;D	0.87578	0.995;0.981;0.972;0.997;0.998;0.991	T	0.00931	-1.1510	10	0.49607	T	0.09	-20.8248	15.8544	0.78965	0.0:0.0:0.0:1.0	.	379;309;290;369;371;377	Q02078;B4DFQ7;Q7Z6C9;Q02078-6;Q02078-5;Q02078-2	MEF2A_HUMAN;.;.;.;.;.	P	369;371;378;309	ENSP00000404110:S369P;ENSP00000346389:S371P;ENSP00000337202:S378P;ENSP00000399460:S309P	ENSP00000337202:S378P	S	+	1	0	MEF2A	98068481	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.651000	0.83577	2.147000	0.66899	0.460000	0.39030	TCT		0.527	MEF2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415985.1			C	100250958	T	C	100250958	3	2	697	1	0	0	0	0	1	0	0	0	9457	1551	54	3	1305	3	MEF2A	15	100250958	Missense_Mutation	SNP	T	TCGA-KL-8328-01A-11D-2310-10	19033976	100250958	2280434	69	38683											
LRRK1	79705	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	15	101606197	101606197	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr15:101606197C>T	ENST00000388948.3	+	32	5914	c.5555C>T	c.(5554-5556)gCt>gTt	p.A1852V	LRRK1_ENST00000532145.1_3'UTR|RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000284395.5_Missense_Mutation_p.A1849V	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)			CCCCGCCAGGCTGCCAGGTCC	0.597																																																0													78	90	86					15																	101606197		2116	4230	6346	SO:0001583	missense	79705			AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.5555C>T	15.37:g.101606197C>T	ENSP00000373600:p.Ala1852Val			Missense_Mutation	SNP	ENST00000388948.3	37	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	C	0.125	-1.121064	0.01785	.	.	ENSG00000154237	ENST00000388948;ENST00000284395;ENST00000529762;ENST00000542170	T;T	0.71698	-0.57;-0.59	5.61	-3.26	0.05064	.	1.306490	0.05010	N	0.470847	T	0.38188	0.1031	N	0.01705	-0.755	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14364	-1.0475	10	0.21540	T	0.41	.	4.1954	0.10441	0.0988:0.4295:0.0936:0.378	.	1852	Q38SD2	LRRK1_HUMAN	V	1852;1849;543;406	ENSP00000373600:A1852V;ENSP00000284395:A1849V	ENSP00000284395:A1849V	A	+	2	0	LRRK1	99423720	0.000000	0.05858	0.000000	0.03702	0.182000	0.23217	0.101000	0.15251	-0.464000	0.06963	-0.136000	0.14681	GCT		0.597	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		T	101606197	C	T	101606197	3	4	697	1	0	0	0	0	1	0	0	0	9034	797	28	2	5677	2	LRRK1	15	101606197	Missense_Mutation	SNP	C	TCGA-KL-8328-01A-11D-2310-10	1355239	101606197	925195	70	38684											
NPRL3	8131	bcgsc.ca	37	16	169144	169144	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr16:169144A>G	ENST00000399953.3	-	3	701	c.299T>C	c.(298-300)cTa>cCa	p.L100P	NPRL3_ENST00000405960.3_5'UTR|NPRL3_ENST00000399951.3_Intron	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	nitrogen permease regulator-like 3 (S. cerevisiae)	100					aorta morphogenesis (GO:0035909)|cardiac muscle tissue development (GO:0048738)|palate development (GO:0060021)|ventricular septum development (GO:0003281)		GTPase activator activity (GO:0005096)			endometrium(1)|large_intestine(3)|ovary(2)	6						AGCATGCTGTAGCAGTGTTGG	0.532																																																0													78	83	81					16																	169144		2013	4162	6175	SO:0001583	missense	8131				CCDS73794.1, CCDS73795.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000103148	ENSG00000103148			14124	protein-coding gene	gene with protein product	"conserved gene telomeric to alpha globin cluster"	600928	"chromosome 16 open reading frame 35"	C16orf35		8575760	Standard	NM_001243247		Approved	CGTHBA, RMD11, NPR3, MARE, HS-40	uc002cfr.3	Q12980	OTTHUMG00000047792	ENST00000399953.3:c.299T>C	16.37:g.169144A>G	ENSP00000382834:p.Leu100Pro		D3DU40|Q1W6H0|Q4TT56|Q92469	Missense_Mutation	SNP	ENST00000399953.3	37		.	.	.	.	.	.	.	.	.	.	A	13.35	2.211931	0.39102	.	.	ENSG00000103148	ENST00000399953;ENST00000262313;ENST00000419636	.	.	.	5.18	4.06	0.47325	Galactose-binding domain-like (1);	0.137738	0.50627	D	0.000116	T	0.75968	0.3922	.	.	.	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.997;0.986	D;D;D;P	0.74348	0.972;0.983;0.952;0.9	T	0.75519	-0.3289	8	0.45353	T	0.12	-14.1353	11.5109	0.50492	0.8495:0.1505:0.0:0.0	.	22;100;100;100	B7Z220;Q4TT55;B7Z6Q0;Q12980	.;.;.;NPRL3_HUMAN	P	100;100;113	.	ENSP00000262313:L100P	L	-	2	0	NPRL3	109144	1.000000	0.71417	0.999000	0.59377	0.964000	0.63967	8.948000	0.93006	0.877000	0.35895	0.533000	0.62120	CTA		0.532	NPRL3-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001039476		G	169144	A	G	169144	3	3	697	1	0	0	0	0	1	0	0	0	10600	420	15	3	1453	3	NPRL3	16	169144	Missense_Mutation	SNP	A	TCGA-KL-8328-01A-11D-2310-10		169144	90185609	71	38685											
CACNA1H	8912	mdanderson.org	37	16	1250389	1250389	+	Missense_Mutation	SNP	A	A	G	rs36117280	byFrequency	TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr16:1250389A>G	ENST00000348261.5	+	7	1185	c.937A>G	c.(937-939)Atg>Gtg	p.M313V	CACNA1H_ENST00000358590.4_Missense_Mutation_p.M313V|CACNA1H_ENST00000565831.1_Missense_Mutation_p.M313V	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	313			M -> V (in dbSNP:rs36117280). {ECO:0000269|PubMed:11157797, ECO:0000269|PubMed:12891677, ECO:0000269|PubMed:15616553}.		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)	CGAGCTGCGCATGCCCTGCAC	0.672													g|||	514	0.102636	0.0651	0.0965	5008	,	,		17775	0.0625		0.1392	False		,,,				2504	0.1616															0									VAL/MET,VAL/MET	286,3770		8,270,1750	21	23	23		937,937	1.3	0.8	16	dbSNP_126	23	1201,7121		95,1011,3055	yes	missense,missense	CACNA1H	NM_001005407.1,NM_021098.2	21,21	103,1281,4805	GG,GA,AA		14.4316,7.0513,12.0132	benign,benign	313/2348,313/2354	1250389	1487,10891	2028	4161	6189	SO:0001583	missense	8912			AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.937A>G	16.37:g.1250389A>G	ENSP00000334198:p.Met313Val		B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	CCDS45375.1	212	0.09706959706959707	34	0.06910569105691057	37	0.10220994475138122	29	0.050699300699300696	112	0.14775725593667546	G	0.522	-0.861845	0.02610	0.070513	0.144316	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.95821	-3.82;-3.76	4.4	1.31	0.21738	Ion transport (1);	3.577580	0.00786	N	0.001311	T	0.02047	0.0064	N	0.00742	-1.23	0.53688	P	2.6999999999999247E-5	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.65249	-0.6214	9	0.15499	T	0.54	.	5.2097	0.15310	0.2553:0.1716:0.5731:0.0	rs36117280;rs58100776	313;313	O95180-2;O95180	.;CAC1H_HUMAN	V	313	ENSP00000334198:M313V;ENSP00000351401:M313V	ENSP00000334198:M313V	M	+	1	0	CACNA1H	1190390	0.025000	0.19082	0.832000	0.32986	0.360000	0.29518	0.078000	0.14761	-0.083000	0.12618	-0.195000	0.12781	ATG		0.672	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		G	1250389	A	G	1250389	3	3	697	1	0	0	0	0	1	0	0	0	2547	217	8	3	959	3	CACNA1H	16	1250389	Missense_Mutation	SNP	A	TCGA-KL-8328-01A-11D-2310-10	1081245	1250389	89104364	72	38686											
C16orf3	2622	hgsc.bcm.edu	37	16	90095603	90095604	+	Intron	INS	-	-	GGCTGCGGGGCA			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr16:90095603_90095604insGGCTGCGGGGCA	ENST00000268699.4	+	2	212				C16orf3_ENST00000408886.2_In_Frame_Ins_p.50_51insPAAC|GAS8_ENST00000540721.1_Intron|GAS8_ENST00000536122.1_Intron	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8						cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		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;0.029)		gctatggggcagcctacggggc	0.658																																																0																																										SO:0001627	intron_variant	750			AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"growth arrest-specific 11"	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	ENST00000268699.4:c.90+1473->GGCTGCGGGGCA	16.37:g.90095603_90095604insGGCTGCGGGGCA			B2RCT1|B7Z4U1|G3V1L5|Q2M234	In_Frame_Ins	INS	ENST00000268699.4	37	CCDS10992.1																																																																																				0.658	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2			GGCTGCGGGGCA	90095604	-	GGCTGCGGGGCA	90095603	6	5	697	0	1	1	1	0	0	0	0	0	1814	188	7	0		0	C16orf3	16	90095603	Intron	INS	-	TCGA-KL-8328-01A-11D-2310-10	88845214	90095603	259150	73	38687											
OR1A2	26189	bcgsc.ca	37	17	3101590	3101590	+	Missense_Mutation	SNP	C	C	T	rs2469791	byFrequency	TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr17:3101590C>T	ENST00000381951.1	+	1	778	c.778C>T	c.(778-780)Cgc>Tgc	p.R260C		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	260			R -> C (in dbSNP:rs2469791). {ECO:0000269|PubMed:15489334}.		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						CATGTATTTCCGCCCTCTGAC	0.438													C|||	740	0.147764	0.2194	0.1571	5008	,	,		18666	0.001		0.2406	False		,,,				2504	0.1002															0								C	CYS/ARG	932,3474	356.4+/-313.5	100,732,1371	115	110	112		778	-0.6	0	17	dbSNP_100	112	2170,6430	370.0+/-335.7	279,1612,2409	yes	missense	OR1A2	NM_012352.1	180	379,2344,3780	TT,TC,CC		25.2326,21.153,23.8505	probably-damaging	260/310	3101590	3102,9904	2203	4300	6503	SO:0001583	missense	26189			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.778C>T	17.37:g.3101590C>T	ENSP00000371377:p.Arg260Cys		Q3KPH3|Q6IFM0|Q6NTD8|Q96R86	Missense_Mutation	SNP	ENST00000381951.1	37	CCDS11021.1	338	0.15476190476190477	104	0.21138211382113822	61	0.1685082872928177	0	0.0	173	0.22823218997361477	C	1.569	-0.534700	0.04082	0.21153	0.252326	ENSG00000172150	ENST00000381951	T	0.35789	1.29	4.0	-0.599	0.11645	GPCR, rhodopsin-like superfamily (1);	0.135982	0.34268	N	0.004118	T	0.00012	0.0000	L	0.52573	1.65	0.80722	P	0.0	P	0.36535	0.557	B	0.34093	0.175	T	0.28713	-1.0035	9	0.23302	T	0.38	.	4.6096	0.12395	0.157:0.5721:0.0:0.2709	rs2469791;rs52812308;rs56722735;rs2469791	260	Q9Y585	OR1A2_HUMAN	C	260	ENSP00000371377:R260C	ENSP00000371377:R260C	R	+	1	0	OR1A2	3048340	0.000000	0.05858	0.012000	0.15200	0.177000	0.22998	-1.119000	0.03276	-0.147000	0.11254	0.543000	0.68304	CGC		0.438	OR1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207293.1	NM_012352		T	3101590	C	T	3101590	3	4	697	1	0	0	0	0	1	0	0	0	10952	652	23	1	780	1	OR1A2	17	3101590	Missense_Mutation	SNP	C	TCGA-KL-8328-01A-11D-2310-10		3101590	78093620	74	38688											
SDK2	54549	ucsc.edu	37	17	71468293	71468293	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr17:71468293T>C	ENST00000392650.3	-	3	289	c.289A>G	c.(289-291)Atg>Gtg	p.M97V	SDK2_ENST00000388726.3_Missense_Mutation_p.M97V	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	97	Ig-like C2-type 1.				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						AGGGCCCCCATTCGGTTCCGC	0.632																																																0													31	33	32					17																	71468293		692	1591	2283	SO:0001583	missense	54549			AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19308	protein-coding gene	gene with protein product		607217	"sidekick homolog 2 (chicken)"			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.289A>G	17.37:g.71468293T>C	ENSP00000376421:p.Met97Val		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	CCDS45769.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	5.042|5.042	0.193439|0.193439	0.09599|0.09599	.|.	.|.	ENSG00000069188|ENSG00000069188	ENST00000392650;ENST00000388726;ENST00000316893|ENST00000416616	T;T|.	0.35973|.	1.28;1.28|.	4.76|4.76	4.76|4.76	0.60689|0.60689	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);|.	0.084158|.	0.47455|.	U|.	0.000221|.	T|T	0.31888|0.31888	0.0811|0.0811	N|N	0.02802|0.02802	-0.49|-0.49	0.43326|0.43326	D|D	0.995352|0.995352	B|.	0.06786|.	0.001|.	B|.	0.11329|.	0.006|.	T|T	0.24297|0.24297	-1.0164|-1.0164	10|5	0.08599|.	T|.	0.76|.	.|.	14.2239|14.2239	0.65845|0.65845	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	97|.	Q58EX2|.	SDK2_HUMAN|.	V|S	97|1	ENSP00000376421:M97V;ENSP00000373378:M97V|.	ENSP00000324967:M97V|.	M|N	-|-	1|2	0|0	SDK2|SDK2	68979888|68979888	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.404000|0.404000	0.30871|0.30871	4.217000|4.217000	0.58547|0.58547	1.907000|1.907000	0.55213|0.55213	0.247000|0.247000	0.18012|0.18012	ATG|AAT		0.632	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		C	71468293	T	C	71468293	3	2	697	1	0	0	0	0	1	0	0	0	13975	1493	52	3	6401	3	SDK2	17	71468293	Missense_Mutation	SNP	T	TCGA-KL-8328-01A-11D-2310-10	68366703	71468293	9726917	75	38689											
CNDP1	84735	broad.mit.edu;mdanderson.org	37	18	72234590	72234590	+	Silent	SNP	T	T	C			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr18:72234590T>C	ENST00000358821.3	+	6	906	c.678T>C	c.(676-678)atT>atC	p.I226I	CNDP1_ENST00000582365.1_Silent_p.I183I	NM_032649.5	NP_116038	Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	226						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)		ACATTGTAATTTCAGATAACC	0.493																																					Melanoma(32;1029 1042 25286 38395 44237)											0													115	120	118					18																	72234590		2203	4300	6503	SO:0001819	synonymous_variant	84735				CCDS12007.1	18q22.3	2014-07-14			ENSG00000150656	ENSG00000150656	3.4.13.20		20675	protein-coding gene	gene with protein product	"carnosinase 1", "glutamate carboxypeptidase-like protein 2"	609064				12473676	Standard	NM_032649		Approved	MGC10825, CN1, CPGL2, HsT2308	uc002llq.3	Q96KN2	OTTHUMG00000132852	ENST00000358821.3:c.678T>C	18.37:g.72234590T>C			Q14D40|Q17S05|Q2TBG0|Q6UWK2|Q9BT98	Silent	SNP	ENST00000358821.3	37	CCDS12007.1																																																																																				0.493	CNDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256326.1	NM_032649		C	72234590	T	C	72234590	2	2	697	1	0	0	0	0	0	0	0	1	3595	1829	64	3		3	CNDP1	18	72234590	Silent	SNP	T	TCGA-KL-8328-01A-11D-2310-10		72234590	5842658	76	38690											
RFX2	5990	broad.mit.edu;mdanderson.org	37	19	6004252	6004252	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr19:6004252T>C	ENST00000303657.5	-	13	1609	c.1460A>G	c.(1459-1461)aAt>aGt	p.N487S	CTC-232P5.1_ENST00000587836.1_RNA|RFX2_ENST00000592546.1_Missense_Mutation_p.N462S|RFX2_ENST00000359161.3_Missense_Mutation_p.N487S	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	487					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						ACTCATGGCATTTGTCAACCA	0.577																																					Colon(38;171 817 19800 47433 48051)											0													201	172	182					19																	6004252		2203	4300	6503	SO:0001583	missense	5990				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.1460A>G	19.37:g.6004252T>C	ENSP00000306335:p.Asn487Ser		A8K581|B3KNC4|Q6IQ44|Q8SNA2	Missense_Mutation	SNP	ENST00000303657.5	37	CCDS12157.1	.	.	.	.	.	.	.	.	.	.	T	10.08	1.253017	0.22965	.	.	ENSG00000087903	ENST00000303657;ENST00000359161;ENST00000537791	T	0.06608	3.28	5.14	5.14	0.70334	.	0.098858	0.64402	D	0.000003	T	0.03263	0.0095	N	0.03948	-0.315	0.49687	D	0.999812	B;B	0.12630	0.006;0.004	B;B	0.17979	0.02;0.004	T	0.48927	-0.8991	10	0.11794	T	0.64	-30.9915	14.0709	0.64858	0.0:0.0:0.0:1.0	.	462;487	P48378-2;P48378	.;RFX2_HUMAN	S	487;462;274	ENSP00000306335:N487S	ENSP00000306335:N487S	N	-	2	0	RFX2	5955252	0.972000	0.33761	0.542000	0.28115	0.634000	0.38068	1.682000	0.37628	2.057000	0.61298	0.533000	0.62120	AAT		0.577	RFX2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452687.1	NM_000635		C	6004252	T	C	6004252	3	2	697	1	0	0	0	0	1	0	0	0	13269	1493	52	3	735	3	RFX2	19	6004252	Missense_Mutation	SNP	T	TCGA-KL-8328-01A-11D-2310-10		6004252	53124731	77	38691											
ZNF763	284390	mdanderson.org	37	19	12087921	12087921	+	Silent	SNP	G	G	C	rs376310072	byFrequency	TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr19:12087921G>C	ENST00000358987.3	+	2	199	c.72G>C	c.(70-72)tcG>tcC	p.S24S	ZNF763_ENST00000538752.1_Silent_p.S44S|ZNF763_ENST00000343949.5_Silent_p.S27S|ZNF763_ENST00000591944.1_Silent_p.S93S|ZNF763_ENST00000590798.1_Silent_p.S44S|ZNF763_ENST00000545530.1_Intron|ZNF763_ENST00000592625.1_Silent_p.S24S			Q0D2J5	ZN763_HUMAN	zinc finger protein 763	24	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						TGGATATTTCGCAGAGGAAAC	0.493													N|||	4	0.000798722	0.0023	0.0	5008	,	,		18630	0.0		0.001	False		,,,				2504	0.0															0													150	152	151					19																	12087921		2203	4300	6503	SO:0001819	synonymous_variant	284390			AK092240	CCDS45982.1	19p13.2	2014-02-12	2006-08-14		ENSG00000197054	ENSG00000197054		"Zinc fingers, C2H2-type", "-"	27614	protein-coding gene	gene with protein product							Standard	NM_001012753		Approved	ZNF440L		Q0D2J5	OTTHUMG00000156430	ENST00000358987.3:c.72G>C	19.37:g.12087921G>C			B3KRU3|B4DRE7	Silent	SNP	ENST00000358987.3	37																																																																																					0.493	ZNF763-002	KNOWN	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000344158.1	NM_001012753		C	12087921	G	C	12087921	2	2	697	1	0	0	0	0	0	0	0	1	18142	1074	38	4		4	ZNF763	19	12087921	Silent	SNP	G	TCGA-KL-8328-01A-11D-2310-10	6083669	12087921	47041062	78	38692											
LSM14A	26065	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	34712450	34712450	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr19:34712450A>G	ENST00000433627.5	+	9	1250	c.1175A>G	c.(1174-1176)aAt>aGt	p.N392S	LSM14A_ENST00000544216.3_Missense_Mutation_p.N392S|LSM14A_ENST00000540746.2_Missense_Mutation_p.N351S	NM_001114093.1	NP_001107565.1	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	392					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)	p.N392S(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					AGAAGATTAAATGCTGAAACA	0.463																																																1	Substitution - Missense(1)	lung(1)											82	69	74					19																	34712450		2203	4300	6503	SO:0001583	missense	26065			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.1175A>G	19.37:g.34712450A>G	ENSP00000413964:p.Asn392Ser		B4DTG6|Q76LX7|Q96AR3|Q96K73|Q96SN5|Q9UFR3	Missense_Mutation	SNP	ENST00000433627.5	37	CCDS46040.1	.	.	.	.	.	.	.	.	.	.	a	27.6	4.844127	0.91197	.	.	ENSG00000257103	ENST00000544216;ENST00000433627;ENST00000540746	T;T;T	0.58210	0.35;0.36;0.39	5.96	5.96	0.96718	FFD/TFG box motif (1);	0.000000	0.85682	D	0.000000	T	0.78991	0.4371	M	0.91717	3.235	0.80722	D	1	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.85130	0.995;0.989;0.997	D	0.83929	0.0305	10	0.87932	D	0	-17.9772	16.4277	0.83824	1.0:0.0:0.0:0.0	.	351;392;392	B4DTG6;Q8ND56;Q8ND56-2	.;LS14A_HUMAN;.	S	392;392;351	ENSP00000446271:N392S;ENSP00000413964:N392S;ENSP00000446451:N351S	ENSP00000314768:N392S	N	+	2	0	LSM14A	39404290	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.874000	0.92363	2.279000	0.76181	0.533000	0.62120	AAT		0.463	LSM14A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451576.3	NM_015578		G	34712450	A	G	34712450	3	3	697	1	0	0	0	0	1	0	0	0	9056	101	4	3	1209	3	LSM14A	19	34712450	Missense_Mutation	SNP	A	TCGA-KL-8328-01A-11D-2310-10	22624529	34712450	24416533	79	38693											
IRGC	56269	mdanderson.org	37	19	44223180	44223180	+	Missense_Mutation	SNP	T	T	C	rs142490244		TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr19:44223180T>C	ENST00000244314.5	+	2	669	c.470T>C	c.(469-471)cTg>cCg	p.L157P		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	157	IRG-type G.					membrane (GO:0016020)	GTP binding (GO:0005525)|hydrolase activity, acting on acid anhydrides (GO:0016817)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				GCTGAGATCCTGTGCCAGGGC	0.652																																					Colon(189;350 2037 11447 13433 38914)											0								T	PRO/LEU	0,4366		0,0,2183	16	16	16		470	-0.9	0.6	19	dbSNP_134	16	6,8528		0,6,4261	yes	missense	IRGC	NM_019612.3	98	0,6,6444	CC,CT,TT		0.0703,0.0,0.0465	probably-damaging	157/464	44223180	6,12894	2183	4267	6450	SO:0001583	missense	56269			BC066939	CCDS12629.1	19q13.32	2008-02-05	2005-10-31	2005-10-31	ENSG00000124449	ENSG00000124449			28835	protein-coding gene	gene with protein product			"immunity-related GTPase family, cinema 1"	IRGC1		12477932	Standard	NM_019612		Approved	Iigp5, CINEMA	uc002oxh.3	Q6NXR0	OTTHUMG00000154587	ENST00000244314.5:c.470T>C	19.37:g.44223180T>C	ENSP00000244314:p.Leu157Pro		Q05BR8	Missense_Mutation	SNP	ENST00000244314.5	37	CCDS12629.1	.	.	.	.	.	.	.	.	.	.	T	12.02	1.813862	0.32053	0.0	7.03E-4	ENSG00000124449	ENST00000244314	T	0.21932	1.98	5.71	-0.933	0.10431	.	0.560197	0.15908	N	0.238733	T	0.14527	0.0351	N	0.19112	0.55	0.33327	D	0.568032	D	0.53312	0.959	P	0.49421	0.61	T	0.34378	-0.9831	10	0.30854	T	0.27	.	6.4041	0.21654	0.4974:0.0:0.1315:0.3711	.	157	Q6NXR0	IIGP5_HUMAN	P	157	ENSP00000244314:L157P	ENSP00000244314:L157P	L	+	2	0	IRGC	48915020	1.000000	0.71417	0.615000	0.29064	0.582000	0.36321	2.781000	0.47750	0.065000	0.16485	0.454000	0.30748	CTG		0.652	IRGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336191.1	NM_019612		C	44223180	T	C	44223180	3	2	697	1	0	0	0	0	1	0	0	0	7840	1580	55	3	472	3	IRGC	19	44223180	Missense_Mutation	SNP	T	TCGA-KL-8328-01A-11D-2310-10	9510730	44223180	14905803	80	38694											
ZNF235	9310	mdanderson.org	37	19	44791618	44791618	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr19:44791618C>T	ENST00000291182.4	-	5	2072	c.1970G>A	c.(1969-1971)tGt>tAt	p.C657Y	ZNF235_ENST00000589248.1_Intron|ZNF235_ENST00000589799.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	657					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)				ACATTCCTCACATTTAAATGG	0.458																																																0													107	100	103					19																	44791618		2203	4300	6503	SO:0001583	missense	9310			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.1970G>A	19.37:g.44791618C>T	ENSP00000291182:p.Cys657Tyr		B4DTQ7|O14898|O14899|Q17RR8	Missense_Mutation	SNP	ENST00000291182.4	37	CCDS33048.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.995989	0.74703	.	.	ENSG00000159917	ENST00000391957;ENST00000291182;ENST00000359844	D	0.85088	-1.94	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	0.44688	D	0.000432	D	0.94788	0.8317	H	0.95745	3.715	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.96269	0.9197	10	0.87932	D	0	-20.7433	17.3494	0.87318	0.0:1.0:0.0:0.0	.	653;657	Q14590-2;Q14590	.;ZN235_HUMAN	Y	657;657;549	ENSP00000291182:C657Y	ENSP00000291182:C657Y	C	-	2	0	ZNF235	49483458	1.000000	0.71417	0.974000	0.42286	0.927000	0.56198	7.446000	0.80609	2.469000	0.83416	0.305000	0.20034	TGT		0.458	ZNF235-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460732.1			T	44791618	C	T	44791618	3	4	697	1	0	0	0	0	1	0	0	0	17793	478	17	2	250	2	ZNF235	19	44791618	Missense_Mutation	SNP	C	TCGA-KL-8328-01A-11D-2310-10	568438	44791618	14337365	81	38695											
KLC3	147700	mdanderson.org	37	19	45849909	45849909	+	Silent	SNP	A	A	G	rs9749618	byFrequency	TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr19:45849909A>G	ENST00000391946.2	+	3	468	c.366A>G	c.(364-366)gaA>gaG	p.E122E	KLC3_ENST00000470402.1_Silent_p.E136E|KLC3_ENST00000585434.1_Silent_p.E122E	NM_177417.2	NP_803136.2	Q6P597	KLC3_HUMAN	kinesin light chain 3	122					axon cargo transport (GO:0008088)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|motile cilium (GO:0031514)|neuron projection (GO:0043005)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		TGCGGGAGGAACTGGAGGAGA	0.701													A|||	983	0.196286	0.0809	0.1873	5008	,	,		11388	0.0873		0.334	False		,,,				2504	0.3292															0								A		444,3498		44,356,1571	5	7	6		366	1.9	1	19	dbSNP_119	6	2326,5724		403,1520,2102	no	coding-synonymous	KLC3	NM_177417.2		447,1876,3673	GG,GA,AA		28.8944,11.2633,23.0987		122/505	45849909	2770,9222	1971	4025	5996	SO:0001819	synonymous_variant	147700			AK092481	CCDS12660.2	19q13	2013-01-10			ENSG00000104892	ENSG00000104892		"Tetratricopeptide (TTC) repeat domain containing"	20717	protein-coding gene	gene with protein product		601334					Standard	XM_005258536		Approved	KLC2L, KNS2B, KLCt	uc002pbf.1	Q6P597	OTTHUMG00000143722	ENST00000391946.2:c.366A>G	19.37:g.45849909A>G			A0AVM3|A2RUT6|Q6GMU2|Q8NAL1|Q8WWJ9	Silent	SNP	ENST00000391946.2	37	CCDS12660.2																																																																																				0.701	KLC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289776.1	NM_145275		G	45849909	A	G	45849909	2	3	697	1	0	0	0	0	0	0	0	1	8337	40	2	3		3	KLC3	19	45849909	Silent	SNP	A	TCGA-KL-8328-01A-11D-2310-10	1058291	45849909	13279074	82	38696											
PPP5C	5536	mdanderson.org	37	19	46878881	46878881	+	Silent	SNP	T	T	C	rs576127473	byFrequency	TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr19:46878881T>C	ENST00000012443.4	+	3	487	c.384T>C	c.(382-384)caT>caC	p.H128H	PPP5C_ENST00000391919.1_Silent_p.H22H	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	128					cell death (GO:0008219)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein dephosphorylation (GO:0006470)|protein heterooligomerization (GO:0051291)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|RNA binding (GO:0003723)|signal transducer activity (GO:0004871)			endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		TGAAGCCCCATGACAAGGATG	0.632													C|||	2	0.000399361	0.0008	0.0	5008	,	,		17659	0.0		0.0	False		,,,				2504	0.001															0													74	57	63					19																	46878881		2203	4300	6503	SO:0001819	synonymous_variant	5536				CCDS12684.1	19q13.3	2013-01-10			ENSG00000011485	ENSG00000011485	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits", "Tetratricopeptide (TTC) repeat domain containing"	9322	protein-coding gene	gene with protein product		600658		PPP5		8666404	Standard	NM_006247		Approved	PP5	uc002pem.3	P53041	OTTHUMG00000134287	ENST00000012443.4:c.384T>C	19.37:g.46878881T>C			Q16722|Q53XV2	Silent	SNP	ENST00000012443.4	37	CCDS12684.1																																																																																				0.632	PPP5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258969.2	NM_006247		C	46878881	T	C	46878881	2	2	697	1	0	0	0	0	0	0	0	1	12411	1461	51	3		3	PPP5C	19	46878881	Silent	SNP	T	TCGA-KL-8328-01A-11D-2310-10	1028972	46878881	12250102	83	38697											
LILRA2	11027	mdanderson.org	37	19	55086955	55086955	+	Silent	SNP	C	C	T	rs145792151	byFrequency	TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr19:55086955C>T	ENST00000251377.3	+	6	1021	c.888C>T	c.(886-888)taC>taT	p.Y296Y	LILRA2_ENST00000391738.3_Silent_p.Y296Y|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000251376.3_Silent_p.Y296Y|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391737.1_Silent_p.Y284Y			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	296	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)			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)		ACAGATGCTACAGTGCACACA	0.672													c|||	52	0.0103834	0.0363	0.0043	5008	,	,		15740	0.001		0.0	False		,,,				2504	0.0															0													50	53	52					19																	55086955		2203	4299	6502	SO:0001819	synonymous_variant	11027			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.888C>T	19.37:g.55086955C>T			O75020	Silent	SNP	ENST00000251377.3	37	CCDS46179.1																																																																																				0.672	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			T	55086955	C	T	55086955	2	4	697	1	0	0	0	0	0	0	0	1	8787	489	17	2		2	LILRA2	19	55086955	Silent	SNP	C	TCGA-KL-8328-01A-11D-2310-10	8208074	55086955	4042028	84	38698											
RFPL3	10738	mdanderson.org	37	22	32756407	32756407	+	Missense_Mutation	SNP	A	A	G	rs5749408	byFrequency	TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr22:32756407A>G	ENST00000249007.4	+	2	747	c.542A>G	c.(541-543)tAc>tGc	p.Y181C	RFPL3S_ENST00000461833.1_5'Flank|RFPL3S_ENST00000382084.4_3'UTR|RFPL3S_ENST00000400234.1_3'UTR|RFPL3_ENST00000382088.3_Missense_Mutation_p.Y152C|RFPL3_ENST00000397468.1_Missense_Mutation_p.Y152C	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	181	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.		Y -> C (in dbSNP:rs5749408).				zinc ion binding (GO:0008270)	p.Y152C(1)|p.Y181C(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						GGCCGCCACTACTGGGAGGTG	0.562													a|||	851	0.169928	0.1059	0.1124	5008	,	,		18743	0.4583		0.0467	False		,,,				2504	0.1268															2	Substitution - Missense(2)	stomach(2)						A	CYS/TYR,CYS/TYR	499,3907	228.1+/-243.1	40,419,1744	85	86	85		542,455	0.7	0.2	22	dbSNP_114	85	479,8117	140.3+/-196.8	11,457,3830	no	missense,missense	RFPL3	NM_001098535.1,NM_006604.2	194,194	51,876,5574	GG,GA,AA		5.5724,11.3255,7.5219	benign,benign	181/318,152/289	32756407	978,12024	2203	4298	6501	SO:0001583	missense	10738			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.542A>G	22.37:g.32756407A>G	ENSP00000249007:p.Tyr181Cys		A2A279|Q6IC03|Q6IC04|Q6NSX3|Q8N5R4	Missense_Mutation	SNP	ENST00000249007.4	37	CCDS43011.1	386	0.17673992673992675	52	0.10569105691056911	46	0.1270718232044199	254	0.44405594405594406	34	0.044854881266490766	A	8.527	0.870091	0.17322	0.113255	0.055724	ENSG00000128276	ENST00000397468;ENST00000249007;ENST00000382088	T;T;T	0.74947	-0.89;-0.89;-0.89	0.704	0.704	0.18121	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.00012	0.0000	M	0.81497	2.545	0.09310	P	0.999999999404185	B	0.33413	0.411	B	0.28709	0.093	T	0.22556	-1.0213	8	0.54805	T	0.06	.	5.601	0.17353	0.9999:0.0:1.0E-4:0.0	rs5749408	181	O75679	RFPL3_HUMAN	C	152;181;152	ENSP00000380609:Y152C;ENSP00000249007:Y181C;ENSP00000371520:Y152C	ENSP00000249007:Y181C	Y	+	2	0	RFPL3	31086407	0.989000	0.36119	0.246000	0.24233	0.050000	0.14768	1.786000	0.38694	0.528000	0.28580	0.172000	0.16884	TAC		0.562	RFPL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075172.3	NM_006604		G	32756407	A	G	32756407	3	3	697	1	0	0	0	0	1	0	0	0	13261	391	14	3	548	3	RFPL3	22	32756407	Missense_Mutation	SNP	A	TCGA-KL-8328-01A-11D-2310-10		32756407	18548159	85	38699											
TMEM27	57393	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	X	15657840	15657840	+	Silent	SNP	A	A	G			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chrX:15657840A>G	ENST00000380342.3	-	5	612	c.357T>C	c.(355-357)aaT>aaC	p.N119N		NM_020665.4	NP_065716.1	Q9HBJ8	TMM27_HUMAN	transmembrane protein 27	119					positive regulation of amino acid transport (GO:0051957)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of SNARE complex assembly (GO:0035543)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)			endometrium(3)|lung(4)|ovary(1)	8	Hepatocellular(33;0.183)					GAGTTTGGTCATTTAGAAAGA	0.328																																																0													136	140	139					X																	15657840		2203	4300	6503	SO:0001819	synonymous_variant	57393			AF229179	CCDS14170.1	Xp22	2012-04-13			ENSG00000147003	ENSG00000147003			29437	protein-coding gene	gene with protein product	"collectrin"	300631				11278314	Standard	NM_020665		Approved	NX17	uc004cxc.2	Q9HBJ8	OTTHUMG00000021181	ENST00000380342.3:c.357T>C	X.37:g.15657840A>G			B2R9M1|Q6UW07	Silent	SNP	ENST00000380342.3	37	CCDS14170.1																																																																																				0.328	TMEM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055879.1	NM_020665		G	15657840	A	G	15657840	2	3	697	1	0	0	0	0	0	0	0	1	16157	214	8	3		3	TMEM27	23	15657840	Silent	SNP	A	TCGA-KL-8328-01A-11D-2310-10		15657840	139612720	86	38700											
KIF1B	23095	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	1	10364647	10364647	+	Intron	SNP	G	G	T			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr1:10364647G>T	ENST00000377086.1	+	22	2317				KIF1B_ENST00000377083.1_Missense_Mutation_p.R1135L|KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377093.4_Missense_Mutation_p.R1135L|KIF1B_ENST00000377081.1_Intron|RN7SL731P_ENST00000584329.1_RNA			O60333	KIF1B_HUMAN	kinesin family member 1B						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)		ACACCTCCGCGGATGAGGAGA	0.468																																																0													45	43	44					1																	10364647		2203	4300	6503	SO:0001627	intron_variant	23095			AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"Kinesins", "Pleckstrin homology (PH) domain containing"	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.2115+7343G>T	1.37:g.10364647G>T			A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37		.	.	.	.	.	.	.	.	.	.	G	25.9	4.680881	0.88542	.	.	ENSG00000054523	ENST00000377093;ENST00000377083	T;T	0.77750	-1.12;-1.12	5.99	5.99	0.97316	.	.	.	.	.	D	0.89389	0.6701	.	.	.	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	D	0.89498	0.3762	8	0.87932	D	0	.	20.4777	0.99188	0.0:0.0:1.0:0.0	.	1135	O60333-3	.	L	1135	ENSP00000366297:R1135L;ENSP00000366287:R1135L	ENSP00000366287:R1135L	R	+	2	0	KIF1B	10287234	1.000000	0.71417	0.964000	0.40570	0.989000	0.77384	9.131000	0.94446	2.840000	0.97914	0.655000	0.94253	CGG		0.468	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			T	10364647	G	T	10364647	1	4	698	0	1	0	0	0	0	0	0	0	8286	1116	39	4		4	KIF1B	1	10364647	Intron	SNP	G	TCGA-KL-8329-01A-11D-2310-10		10364647	238885974	1	38701											
NBPF3	84224	mdanderson.org	37	1	21806667	21806667	+	Missense_Mutation	SNP	C	C	G	rs12043777	byFrequency	TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr1:21806667C>G	ENST00000318249.5	+	11	1682	c.1332C>G	c.(1330-1332)gaC>gaG	p.D444E	NBPF3_ENST00000342104.5_Missense_Mutation_p.D432E|NBPF3_ENST00000454000.2_Missense_Mutation_p.D374E|NBPF3_ENST00000318220.6_Missense_Mutation_p.D388E	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	444	NBPF 3. {ECO:0000255|PROSITE- ProRule:PRU00647}.		D -> E (in dbSNP:rs12043777). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.			cytoplasm (GO:0005737)		p.D444E(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		ACAGAAGTGACTTTTACTCAT	0.453																																																1	Substitution - Missense(1)	prostate(1)						C	GLU/ASP	128,4248		35,58,2095	87	47	61		1332	-1.3	0	1	dbSNP_120	61	1540,6608		435,670,2969	no	missense	NBPF3	NM_032264.2	45	470,728,5064	GG,GC,CC		18.9003,2.925,13.3184	benign	444/634	21806667	1668,10856	2188	4074	6262	SO:0001583	missense	84224			BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"neuroblastoma breakpoint family"	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.1332C>G	1.37:g.21806667C>G	ENSP00000316782:p.Asp444Glu		A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Silent	SNP	ENST00000318249.5	37	CCDS216.1	705	0.3228021978021978	55	0.11178861788617886	140	0.3867403314917127	235	0.41083916083916083	275	0.3627968337730871	.	1.891	-0.455414	0.04540	0.02925	0.189003	ENSG00000142794	ENST00000454000;ENST00000318220;ENST00000318249;ENST00000342104;ENST00000434838	T;T;T;T;T	0.06294	3.32;3.32;3.32;3.32;3.32	0.658	-1.32	0.09201	DUF1220 (2);	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B	0.24823	0.0;0.112	B;B	0.25140	0.001;0.058	T	0.45279	-0.9272	7	0.52906	T	0.07	.	.	.	.	rs56119644	432;444	Q9H094-3;Q9H094	.;NBPF3_HUMAN	E	374;388;444;432;388	ENSP00000415711:D374E;ENSP00000316739:D388E;ENSP00000316782:D444E;ENSP00000340336:D432E;ENSP00000391865:D388E	ENSP00000316739:D388E	D	+	3	2	NBPF3	21679254	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	0.088000	0.14979	-0.800000	0.04433	0.121000	0.15741	GAC		0.453	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032264		G	21806667	C	G	21806667	3	3	698	1	0	0	0	0	1	0	0	0	10199	564	20	4	1370	4	NBPF3	1	21806667	Missense_Mutation	SNP	C	TCGA-KL-8329-01A-11D-2310-10	11442020	21806667	227443954	2	38702											
BAT2L2	23215	broad.mit.edu	37	1	171484936	171484936	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr1:171484936delA	ENST00000338920.4	+	5	695	c.458delA	c.(457-459)gaafs	p.E153fs	PRRC2C_ENST00000476522.1_3'UTR|PRRC2C_ENST00000367742.3_Frame_Shift_Del_p.E155fs|PRRC2C_ENST00000392078.3_Frame_Shift_Del_p.E155fs|PRRC2C_ENST00000426496.2_Frame_Shift_Del_p.E153fs	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	153					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										GGGGATCAGGAAAAAAAAGAA	0.358																																																0													66	67	66					1																	171484936		2203	4300	6503	SO:0001589	frameshift_variant	23215			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.458delA	1.37:g.171484936delA	ENSP00000343629:p.Glu153fs		Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Frame_Shift_Del	DEL	ENST00000338920.4	37	CCDS1296.2																																																																																				0.358	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		-	171484936	A	-	171484936	7	5	698	1	0	1	0	1	0	0	0	0	1321	246	9	0	472	0	BAT2L2	1	171484936	Frame_Shift_Del	DEL	A	TCGA-KL-8329-01A-11D-2310-10	149678269	171484936	77765685	3	38703											
KIAA1614	57710	ucsc.edu	37	1	180905800	180905800	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr1:180905800A>G	ENST00000367588.4	+	5	2810	c.2755A>G	c.(2755-2757)Aga>Gga	p.R919G	KIAA1614_ENST00000367587.1_Missense_Mutation_p.R540G	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	919										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GGAGAACAGCAGAGATGGTAA	0.677																																																0													3	4	4					1																	180905800		1708	3808	5516	SO:0001583	missense	57710			AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.2755A>G	1.37:g.180905800A>G	ENSP00000356560:p.Arg919Gly		Q5VZ45|Q9HCF8	Missense_Mutation	SNP	ENST00000367588.4	37	CCDS41442.1	.	.	.	.	.	.	.	.	.	.	A	10.96	1.499426	0.26861	.	.	ENSG00000135835	ENST00000367588;ENST00000367587	T;T	0.27256	2.26;1.68	4.19	-0.27	0.12926	.	0.983219	0.08287	N	0.969066	T	0.12178	0.0296	N	0.19112	0.55	0.27723	N	0.945076	B	0.02656	0.0	B	0.04013	0.001	T	0.34551	-0.9824	9	0.21540	T	0.41	0.2422	0.4181	0.00452	0.3213:0.1535:0.2979:0.2274	.	919	Q5VZ46	K1614_HUMAN	G	919;540	ENSP00000356560:R919G;ENSP00000356559:R540G	ENSP00000356559:R540G	R	+	1	2	KIAA1614	179172423	0.000000	0.05858	0.000000	0.03702	0.708000	0.40852	-1.619000	0.02048	-0.279000	0.09167	0.459000	0.35465	AGA		0.677	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	XM_046531		G	180905800	A	G	180905800	3	3	698	1	0	0	0	0	1	0	0	0	8250	180	7	3	2773	3	KIAA1614	1	180905800	Missense_Mutation	SNP	A	TCGA-KL-8329-01A-11D-2310-10	9420864	180905800	68344821	4	38704											
LPIN1	23175	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	2	11955246	11955246	+	Missense_Mutation	SNP	G	G	A	rs398124543		TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr2:11955246G>A	ENST00000256720.2	+	17	2267	c.2174G>A	c.(2173-2175)cGt>cAt	p.R725H	LPIN1_ENST00000396097.1_Missense_Mutation_p.R455H|LPIN1_ENST00000425416.2_Missense_Mutation_p.R731H|LPIN1_ENST00000396099.1_Missense_Mutation_p.R767H|LPIN1_ENST00000449576.2_Missense_Mutation_p.R810H|LPIN1_ENST00000404113.2_Missense_Mutation_p.R226H	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	725	C-LIP.				cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		TGTTCTGCCCGTGCCATCGGG	0.527																																																0													56	55	55					2																	11955246		2203	4300	6503	SO:0001583	missense	23175			D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.2174G>A	2.37:g.11955246G>A	ENSP00000256720:p.Arg725His		A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Missense_Mutation	SNP	ENST00000256720.2	37	CCDS1682.1	.	.	.	.	.	.	.	.	.	.	G	32	5.149073	0.94645	.	.	ENSG00000134324	ENST00000449576;ENST00000396099;ENST00000425416;ENST00000256720;ENST00000396097;ENST00000404113	D;D;D;D;D;D	0.85955	-2.05;-2.05;-2.05;-2.05;-2.05;-2.05	4.69	4.69	0.59074	HAD-like domain (2);LNS2, Lipin/Ned1/Smp2 (2);	0.000000	0.85682	D	0.000000	D	0.94611	0.8263	H	0.94847	3.59	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	0.96308	0.9226	10	0.87932	D	0	-14.9771	17.6508	0.88163	0.0:0.0:1.0:0.0	.	226;810;725	B4DET9;F5GY24;Q14693	.;.;LPIN1_HUMAN	H	810;767;731;725;455;226	ENSP00000397908:R810H;ENSP00000379406:R767H;ENSP00000401522:R731H;ENSP00000256720:R725H;ENSP00000379404:R455H;ENSP00000386120:R226H	ENSP00000256720:R725H	R	+	2	0	LPIN1	11872697	1.000000	0.71417	0.494000	0.27515	0.982000	0.71751	9.282000	0.95840	2.156000	0.67533	0.655000	0.94253	CGT		0.527	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239296.3	NM_145693		A	11955246	G	A	11955246	3	1	698	1	0	0	0	0	1	0	0	0	8920	1145	40	1	2236	1	LPIN1	2	11955246	Missense_Mutation	SNP	G	TCGA-KL-8329-01A-11D-2310-10		11955246	231244127	5	38705											
C2orf55	343990	broad.mit.edu	37	2	99449445	99449445	+	Silent	SNP	C	C	T	rs373720213		TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr2:99449445C>T	ENST00000397899.2	-	4	586	c.255G>A	c.(253-255)acG>acA	p.T85T	KIAA1211L_ENST00000462314.1_Intron	NM_207362.2	NP_997245.2	Q6NV74	K121L_HUMAN	KIAA1211-like	85																	GGCTGCCCAGCGTGCCCCTCG	0.562													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15890	0.0		0.0	False		,,,				2504	0.0															0								C		4,3854		0,4,1925	77	86	83		255	-9.9	0	2		83	0,8258		0,0,4129	no	coding-synonymous	C2orf55	NM_207362.2		0,4,6054	TT,TC,CC		0.0,0.1037,0.033		85/963	99449445	4,12112	1929	4129	6058	SO:0001819	synonymous_variant	343990			BC068277	CCDS42720.1	2q11.2	2012-08-03	2012-08-03	2012-08-03	ENSG00000196872	ENSG00000196872			33454	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 55"	C2orf55			Standard	NM_207362		Approved	MGC42367	uc002szf.1	Q6NV74	OTTHUMG00000153171	ENST00000397899.2:c.255G>A	2.37:g.99449445C>T				Silent	SNP	ENST00000397899.2	37	CCDS42720.1																																																																																				0.562	KIAA1211L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329933.1	NM_207362		T	99449445	C	T	99449445	2	4	698	1	0	0	0	0	0	0	0	1	2178	755	27	1		1	C2orf55	2	99449445	Silent	SNP	C	TCGA-KL-8329-01A-11D-2310-10	87494199	99449445	143749928	6	38706											
RBMS3	27303	broad.mit.edu	37	3	29925685	29925685	+	Silent	SNP	T	T	G			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr3:29925685T>G	ENST00000383767.2	+	8	1113	c.777T>G	c.(775-777)gcT>gcG	p.A259A	RBMS3_ENST00000273139.9_Silent_p.A259A|RBMS3_ENST00000383766.2_Silent_p.A258A|RBMS3_ENST00000452462.1_Silent_p.A259A|RBMS3_ENST00000434693.2_Silent_p.A258A|RBMS3_ENST00000445033.1_Silent_p.A259A|RBMS3_ENST00000456853.1_Silent_p.A272A|RBMS3_ENST00000396583.3_Silent_p.A272A			Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	259					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)				ACCCCACAGCTGCCATACAGA	0.353																																																0													109	102	105					3																	29925685		2203	4300	6503	SO:0001819	synonymous_variant	27303			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.777T>G	3.37:g.29925685T>G			A8K9S4|B7ZL17|G5E9J9|O75876|Q17RI0|Q6XE23	Silent	SNP	ENST00000383767.2	37	CCDS33724.1																																																																																				0.353	RBMS3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341306.1	NM_001003792		G	29925685	T	G	29925685	2	3	698	1	0	0	0	0	0	0	0	1	13156	1567	55	5		5	RBMS3	3	29925685	Silent	SNP	T	TCGA-KL-8329-01A-11D-2310-10		29925685	168096745	7	38707											
OR5H15	403274	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	3	97888186	97888186	+	Missense_Mutation	SNP	C	C	G			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr3:97888186C>G	ENST00000356526.2	+	1	643	c.643C>G	c.(643-645)Ctt>Gtt	p.L215V		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	215						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						TGTGACTATTCTTATATCTTA	0.343																																																0													58	65	62					3																	97888186		2203	4300	6503	SO:0001583	missense	403274				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.643C>G	3.37:g.97888186C>G	ENSP00000373195:p.Leu215Val			Missense_Mutation	SNP	ENST00000356526.2	37	CCDS33799.1	.	.	.	.	.	.	.	.	.	.	-	4.264	0.048137	0.08243	.	.	ENSG00000233412	ENST00000356526;ENST00000454529	T	0.00051	8.81	2.48	0.494	0.16884	GPCR, rhodopsin-like superfamily (1);	0.171635	0.28026	N	0.016891	T	0.00144	0.0004	L	0.52759	1.655	0.09310	N	1	B	0.29671	0.254	B	0.37387	0.248	T	0.26360	-1.0105	10	0.59425	D	0.04	.	5.0095	0.14304	0.0:0.631:0.2238:0.1452	.	215	A6NDH6	O5H15_HUMAN	V	215	ENSP00000373195:L215V	ENSP00000373195:L215V	L	+	1	0	OR5H15	99370876	0.000000	0.05858	0.004000	0.12327	0.012000	0.07955	-1.111000	0.03303	0.344000	0.23847	0.184000	0.17185	CTT		0.343	OR5H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359109.1			G	97888186	C	G	97888186	3	3	698	1	0	0	0	0	1	0	0	0	11163	913	32	4	645	4	OR5H15	3	97888186	Missense_Mutation	SNP	C	TCGA-KL-8329-01A-11D-2310-10	67962501	97888186	100134244	8	38708											
A4GNT	51146	mdanderson.org	37	3	137850003	137850003	+	Silent	SNP	A	A	G	rs2724691	byFrequency	TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr3:137850003A>G	ENST00000236709.3	-	2	297	c.96T>C	c.(94-96)tgT>tgC	p.C32C		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	32					carbohydrate metabolic process (GO:0005975)|glycoprotein biosynthetic process (GO:0009101)|negative regulation of epithelial cell proliferation (GO:0050680)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylglucosaminyltransferase activity (GO:0008375)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						AAGAAGGCAAACAGAAGAGGC	0.557													G|||	3075	0.614018	0.5946	0.719	5008	,	,		16574	0.5476		0.662	False		,,,				2504	0.5849															0								G		2648,1758	521.2+/-370.5	794,1060,349	85	84	84		96	3.6	0	3	dbSNP_100	84	5754,2846	447.4+/-361.5	1918,1918,464	no	coding-synonymous	A4GNT	NM_016161.2		2712,2978,813	GG,GA,AA		33.093,39.9001,35.399		32/341	137850003	8402,4604	2203	4300	6503	SO:0001819	synonymous_variant	51146			AF141315	CCDS3097.1	3p14.3	2010-12-14			ENSG00000118017	ENSG00000118017			17968	protein-coding gene	gene with protein product						10430883	Standard	NM_016161		Approved	alpha4GnT	uc003ers.2	Q9UNA3	OTTHUMG00000159820	ENST00000236709.3:c.96T>C	3.37:g.137850003A>G			Q0VDK1|Q0VDK2	Silent	SNP	ENST00000236709.3	37	CCDS3097.1																																																																																				0.557	A4GNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357557.1	NM_016161		G	137850003	A	G	137850003	2	3	698	1	0	0	0	0	0	0	0	1	7	41	2	3		3	A4GNT	3	137850003	Silent	SNP	A	TCGA-KL-8329-01A-11D-2310-10	39961817	137850003	60172427	9	38709											
PRR23A	729627	hgsc.bcm.edu;mdanderson.org	37	3	138724463	138724463	+	Silent	SNP	G	G	A			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr3:138724463G>A	ENST00000383163.2	-	1	647	c.648C>T	c.(646-648)ttC>ttT	p.F216F	MRPS22_ENST00000495075.1_5'Flank	NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN	proline rich 23A	216	Pro-rich.									endometrium(3)|kidney(1)|lung(7)	11						ATTCCGGGTCGAAGAAGGGGC	0.662																																																0													32	39	37					3																	138724463		692	1591	2283	SO:0001819	synonymous_variant	729627				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.648C>T	3.37:g.138724463G>A				Silent	SNP	ENST00000383163.2	37	CCDS46923.1																																																																																				0.662	PRR23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361503.1	NM_001134659		A	138724463	G	A	138724463	2	1	698	1	0	0	0	0	0	0	0	1	12599	1049	37	1		1	PRR23A	3	138724463	Silent	SNP	G	TCGA-KL-8329-01A-11D-2310-10	874460	138724463	59297967	10	38710											
PAK2	5062	mdanderson.org	37	3	196529978	196529978	+	Silent	SNP	C	C	T	rs79726945		TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr3:196529978C>T	ENST00000327134.3	+	4	701	c.379C>T	c.(379-381)Cta>Tta	p.L127L		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	127	Autoregulatory region. {ECO:0000250}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:2001271)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of defense response to virus by virus (GO:0050690)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activator activity (GO:0030296)			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		GCTGGATGTCCTAAAGTTCTA	0.453																																																0													106	93	98					3																	196529978		2203	4300	6503	SO:0001819	synonymous_variant	5062			U24153	CCDS3321.1	3q29	2008-06-17	2008-06-17			ENSG00000180370	2.7.11.1		8591	protein-coding gene	gene with protein product	"S6/H4 kinase"	605022	"p21 (CDKN1A)-activated kinase 2"			7744004, 7618083	Standard	NM_002577		Approved	PAK65, PAKgamma	uc003fwy.4	Q13177		ENST00000327134.3:c.379C>T	3.37:g.196529978C>T			Q13154|Q6ISC3	Silent	SNP	ENST00000327134.3	37	CCDS3321.1																																																																																				0.453	PAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340548.1	NM_002577		T	196529978	C	T	196529978	2	4	698	1	0	0	0	0	0	0	0	1	11403	680	24	2		2	PAK2	3	196529978	Silent	SNP	C	TCGA-KL-8329-01A-11D-2310-10	57805515	196529978	1492452	11	38711											
NOP14	8602	broad.mit.edu	37	4	2952919	2952919	+	Silent	SNP	T	T	C			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr4:2952919T>C	ENST00000314262.6	-	7	972	c.924A>G	c.(922-924)aaA>aaG	p.K308K	NOP14_ENST00000502735.1_Silent_p.K308K|NOP14_ENST00000398071.4_Silent_p.K308K|NOP14-AS1_ENST00000503709.1_RNA|NOP14-AS1_ENST00000515194.1_RNA|NOP14_ENST00000416614.2_Silent_p.K308K	NM_003703.1	NP_003694.1	P78316	NOP14_HUMAN	NOP14 nucleolar protein	308					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						TATGTTTTGGTTTCTTAACAT	0.403																																																0													251	241	244					4																	2952919		2203	4300	6503	SO:0001819	synonymous_variant	8602			AB000467	CCDS33945.1	4p16.3	2012-12-10	2012-12-10	2008-10-13	ENSG00000087269	ENSG00000087269			16821	protein-coding gene	gene with protein product	"NOP14 homolog (S. cerevisiae)"	611526	"chromosome 4 open reading frame 9", "nucleolar protein 14", "nucleolar protein 14 homolog (yeast)", "NOP14 nucleolar protein homolog (yeast)"	C4orf9, NOL14		9734812, 11694595	Standard	XR_241655		Approved	RES4-25, UTP2	uc003ggj.1	P78316	OTTHUMG00000159911	ENST00000314262.6:c.924A>G	4.37:g.2952919T>C			D3DVR6|Q7LGI5|Q7Z6K0|Q8TBR6	Silent	SNP	ENST00000314262.6	37	CCDS33945.1																																																																																				0.403	NOP14-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358135.2	NM_003703		C	2952919	T	C	2952919	2	2	698	1	0	0	0	0	0	0	0	1	10538	1722	60	3		3	NOP14	4	2952919	Silent	SNP	T	TCGA-KL-8329-01A-11D-2310-10		2952919	188201357	12	38712											
UGT2B28	54490	broad.mit.edu	37	4	70146674	70146674	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr4:70146674delT	ENST00000335568.5	+	1	458	c.456delT	c.(454-456)gctfs	p.A152fs	UGT2B28_ENST00000511240.1_Frame_Shift_Del_p.A152fs	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	152					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						TTGCAGATGCTTTTTTTCCTT	0.378																																																0													101	112	108					4																	70146674		2037	4235	6272	SO:0001589	frameshift_variant	54490			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.456delT	4.37:g.70146674delT	ENSP00000334276:p.Ala152fs		B5BUM0|Q9BY62|Q9BY63	Frame_Shift_Del	DEL	ENST00000335568.5	37	CCDS3528.1																																																																																				0.378	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	NM_053039		-	70146674	T	-	70146674	7	5	698	1	0	1	0	1	0	0	0	0	16965	1596	56	0	458	0	UGT2B28	4	70146674	Frame_Shift_Del	DEL	T	TCGA-KL-8329-01A-11D-2310-10	67193755	70146674	121007602	13	38713											
CNOT6L	246175	mdanderson.org	37	4	78650048	78650048	+	Silent	SNP	C	C	T	rs199946358	byFrequency	TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr4:78650048C>T	ENST00000504123.1	-	10	1342	c.1212G>A	c.(1210-1212)ccG>ccA	p.P404P	CNOT6L_ENST00000264903.4_Silent_p.P404P			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	404	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						ATAGCACCAGCGGGATGGAAT	0.423													C|||	3	0.000599042	0.0023	0.0	5008	,	,		19748	0.0		0.0	False		,,,				2504	0.0															0								C		8,3758		0,8,1875	122	120	121		1212	4.7	1	4		121	0,8220		0,0,4110	no	coding-synonymous	CNOT6L	NM_144571.2		0,8,5985	TT,TC,CC		0.0,0.2124,0.0667		404/556	78650048	8,11978	1883	4110	5993	SO:0001819	synonymous_variant	246175			AL133112	CCDS68731.1	4q13.3	2014-06-17				ENSG00000138767			18042	protein-coding gene	gene with protein product							Standard	NM_144571		Approved	DKFZp434K098, Ccr4b	uc003hks.3	Q96LI5		ENST00000504123.1:c.1212G>A	4.37:g.78650048C>T			Q9UF92	Silent	SNP	ENST00000504123.1	37		3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	8.699	0.909296	0.17833	0.002124	0.0	ENSG00000138767	ENST00000515506	.	.	.	5.56	4.71	0.59529	.	.	.	.	.	T	0.41073	0.1143	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43278	-0.9401	4	.	.	.	-2.3006	4.5793	0.12252	0.192:0.5099:0.2233:0.0748	.	.	.	.	T	433	.	.	A	-	1	0	CNOT6L	78869072	0.930000	0.31532	1.000000	0.80357	0.998000	0.95712	0.063000	0.14410	2.627000	0.88993	0.563000	0.77884	GCT		0.423	CNOT6L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000362515.1			T	78650048	C	T	78650048	2	4	698	1	0	0	0	0	0	0	0	1	3625	755	27	1		1	CNOT6L	4	78650048	Silent	SNP	C	TCGA-KL-8329-01A-11D-2310-10	8503374	78650048	112504228	14	38714											
HERC5	51191	mdanderson.org	37	4	89380519	89380519	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr4:89380519A>G	ENST00000264350.3	+	2	440	c.287A>G	c.(286-288)aAc>aGc	p.N96S	HERC5_ENST00000508695.1_3'UTR	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	96					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)		TTAGGAAAAAACATGAAGATA	0.353																																					Esophageal Squamous(39;887 1012 34045 50514)											0													122	120	121					4																	89380519		2203	4300	6503	SO:0001583	missense	51191			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.287A>G	4.37:g.89380519A>G	ENSP00000264350:p.Asn96Ser		B2RTQ1|Q69G20	Missense_Mutation	SNP	ENST00000264350.3	37	CCDS3630.1	.	.	.	.	.	.	.	.	.	.	a	9.031	0.987277	0.18889	.	.	ENSG00000138646	ENST00000264350	T	0.80824	-1.42	3.62	3.62	0.41486	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.233755	0.27595	N	0.018671	T	0.67268	0.2875	L	0.31371	0.925	0.80722	D	1	B	0.10296	0.003	B	0.04013	0.001	T	0.60835	-0.7184	10	0.19147	T	0.46	.	10.6203	0.45476	1.0:0.0:0.0:0.0	.	96	Q9UII4	HERC5_HUMAN	S	96	ENSP00000264350:N96S	ENSP00000264350:N96S	N	+	2	0	HERC5	89599542	0.786000	0.28738	0.999000	0.59377	0.700000	0.40528	2.129000	0.42055	1.894000	0.54839	0.529000	0.55759	AAC		0.353	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253554.2	NM_016323		G	89380519	A	G	89380519	3	3	698	1	0	0	0	0	1	0	0	0	7063	43	2	3	293	3	HERC5	4	89380519	Missense_Mutation	SNP	A	TCGA-KL-8329-01A-11D-2310-10	10730471	89380519	101773757	15	38715											
DCHS2	54798	broad.mit.edu;ucsc.edu	37	4	155219313	155219313	+	Silent	SNP	C	C	T	rs142512414		TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr4:155219313C>T	ENST00000357232.4	-	18	4787	c.4788G>A	c.(4786-4788)tcG>tcA	p.S1596S		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1596	Cadherin 14. {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)		GGTTTGTAGGCGACTCGGGGG	0.423																																																0								C		1,4405	2.1+/-5.4	0,1,2202	87	89	88		4788	-8.5	0	4	dbSNP_134	88	0,8600		0,0,4300	no	coding-synonymous	DCHS2	NM_017639.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		1596/2917	155219313	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54798			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.4788G>A	4.37:g.155219313C>T			B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	CCDS3785.1																																																																																				0.423	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		T	155219313	C	T	155219313	2	4	698	1	0	0	0	0	0	0	0	1	4290	755	27	1		1	DCHS2	4	155219313	Silent	SNP	C	TCGA-KL-8329-01A-11D-2310-10	65838794	155219313	35934963	16	38716											
SDHA	6389	mdanderson.org	37	5	236628	236628	+	Missense_Mutation	SNP	C	C	T	rs201139275	byFrequency	TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr5:236628C>T	ENST00000264932.6	+	10	1461	c.1346C>T	c.(1345-1347)gCc>gTc	p.A449V	SDHA_ENST00000510361.1_Missense_Mutation_p.A401V|SDHA_ENST00000504309.1_Missense_Mutation_p.A449V	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	449					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)	GTACATGGTGCCAACCGCCTC	0.592									Familial Paragangliomas				C|||	9	0.00179712	0.003	0.0014	5008	,	,		17830	0.002		0.001	False		,,,				2504	0.001															0													81	74	77					5																	236628		2203	4300	6503	SO:0001583	missense	6389	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	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.1346C>T	5.37:g.236628C>T	ENSP00000264932:p.Ala449Val		A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	ENST00000264932.6	37	CCDS3853.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	21.6|21.6	4.176378|4.176378	0.78564|0.78564	.|.	.|.	ENSG00000073578|ENSG00000073578	ENST00000264932;ENST00000327872;ENST00000504309;ENST00000510361|ENST00000515815	T;T;T|.	0.70986|.	-0.53;-0.53;-0.53|.	4.9|4.9	4.9|4.9	0.64082|0.64082	Fumarate reductase/succinate dehydrogenase flavoprotein, N-terminal (1);|.	0.142014|.	0.46758|.	U|.	0.000265|.	D|D	0.92519|0.92519	0.7624|0.7624	H|H	0.99971|0.99971	5.125|5.125	0.80722|0.80722	D|D	1|1	D;D;P;P;D|.	0.63046|.	0.96;0.992;0.881;0.955;0.99|.	P;P;P;P;P|.	0.54924|.	0.764;0.675;0.448;0.548;0.585|.	D|D	0.96100|0.96100	0.9068|0.9068	10|5	0.87932|.	D|.	0|.	.|.	15.9089|15.9089	0.79456|0.79456	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	401;449;43;449;449|.	E9PBJ5;B4DYN5;B3KYA5;D6RFM5;P31040|.	.;.;.;.;DHSA_HUMAN|.	V|S	449;304;449;401|1	ENSP00000264932:A449V;ENSP00000426514:A449V;ENSP00000427703:A401V|.	ENSP00000264932:A449V|.	A|P	+|+	2|1	0|0	SDHA|SDHA	289628|289628	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.230000|0.230000	0.25150|0.25150	5.793000|5.793000	0.69060|0.69060	2.411000|2.411000	0.81874|0.81874	0.650000|0.650000	0.86243|0.86243	GCC|CCA		0.592	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	NM_004168		T	236628	C	T	236628	3	4	698	1	0	0	0	0	1	0	0	0	13969	739	26	2	1384	2	SDHA	5	236628	Missense_Mutation	SNP	C	TCGA-KL-8329-01A-11D-2310-10		236628	180678632	17	38717											
SCAMP1	9522	broad.mit.edu;mdanderson.org	37	5	77745782	77745782	+	Missense_Mutation	SNP	G	G	T			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr5:77745782G>T	ENST00000538629.1	+	7	815	c.658G>T	c.(658-660)Gta>Tta	p.V220L	SCAMP1_ENST00000339292.4_3'UTR	NM_004866.4	NP_004857.4	O15126	SCAM1_HUMAN	secretory carrier membrane protein 1	220					endocytosis (GO:0006897)|exocytosis (GO:0006887)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)	clathrin-coated vesicle (GO:0030136)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)|synaptic vesicle membrane (GO:0030672)|trans-Golgi network (GO:0005802)|zymogen granule membrane (GO:0042589)							all_lung(232;0.000397)|Lung NSC(167;0.00105)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;1.9e-46)|Epithelial(54;9.4e-43)|all cancers(79;1.12e-37)		TAGATTCTTTGTATTCTTCTT	0.343																																																0													154	146	149					5																	77745782		1817	4070	5887	SO:0001583	missense	9522			AF038966	CCDS75264.1	5q14.1	2013-02-21			ENSG00000085365	ENSG00000085365		"Secretory carrier membrane proteins"	10563	protein-coding gene	gene with protein product		606911				9378760	Standard	NM_004866		Approved	SCAMP37	uc003kfl.3	O15126	OTTHUMG00000162479	ENST00000538629.1:c.658G>T	5.37:g.77745782G>T	ENSP00000475496:p.Val220Leu		O43587|Q6FG23|Q96BX1|Q96QK5	Missense_Mutation	SNP	ENST00000538629.1	37																																																																																					0.343	SCAMP1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_004866		T	77745782	G	T	77745782	3	4	698	1	0	0	0	0	1	0	0	0	13876	1377	48	4	684	4	SCAMP1	5	77745782	Missense_Mutation	SNP	G	TCGA-KL-8329-01A-11D-2310-10	77509154	77745782	103169478	18	38718											
TTC37	9652	broad.mit.edu	37	5	94830430	94830430	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr5:94830430delT	ENST00000358746.2	-	36	4056	c.3758delA	c.(3757-3759)aatfs	p.N1253fs		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1253						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						TAGTGCAGTATTTTTTTCATC	0.343																																																0													191	191	191					5																	94830430		2203	4300	6503	SO:0001589	frameshift_variant	9652			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.3758delA	5.37:g.94830430delT	ENSP00000351596:p.Asn1253fs		O15077|Q6PJI3	Frame_Shift_Del	DEL	ENST00000358746.2	37	CCDS4072.1																																																																																				0.343	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	NM_014639		-	94830430	T	-	94830430	7	5	698	1	0	1	0	1	0	0	0	0	16710	1493	52	0	968	0	TTC37	5	94830430	Frame_Shift_Del	DEL	T	TCGA-KL-8329-01A-11D-2310-10	17084648	94830430	86084830	19	38719											
FAM13B	51306	broad.mit.edu	37	5	137278834	137278834	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr5:137278834delA	ENST00000033079.3	-	20	2797	c.2346delT	c.(2344-2346)tttfs	p.F782fs	FAM13B_ENST00000425075.2_Frame_Shift_Del_p.F658fs|FAM13B_ENST00000420893.2_Frame_Shift_Del_p.F754fs	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	782					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(4)|kidney(2)|lung(5)	11						TGATTTCTTCAAAAAAATGTG	0.353																																																0													100	102	101					5																	137278834		2203	4300	6503	SO:0001589	frameshift_variant	51306			AF251038	CCDS4195.1, CCDS47269.1, CCDS47270.1	5q31	2011-09-07	2009-01-20	2009-01-20	ENSG00000031003	ENSG00000031003		"Rho GTPase activating proteins"	1335	protein-coding gene	gene with protein product		609371	"chromosome 5 open reading frame 5", "family with sequence similarity 13, member B1"	C5orf5, FAM13B1		11087669, 11161817	Standard	NM_016603		Approved	N61, KHCHP, ARHGAP49	uc003lbz.2	Q9NYF5	OTTHUMG00000129202	ENST00000033079.3:c.2346delT	5.37:g.137278834delA	ENSP00000033079:p.Phe782fs		D3DQB5|G3V0H9|Q3ZCR0|Q6PGQ2|Q9P0I7	Frame_Shift_Del	DEL	ENST00000033079.3	37	CCDS4195.1																																																																																				0.353	FAM13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251279.1			-	137278834	A	-	137278834	7	5	698	1	0	1	0	1	0	0	0	0	5455	127	5	0	417	0	FAM13B	5	137278834	Frame_Shift_Del	DEL	A	TCGA-KL-8329-01A-11D-2310-10	42448404	137278834	43636426	20	38720											
PCDHA8	56140	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	5	140221090	140221090	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr5:140221090C>T	ENST00000531613.1	+	1	184	c.184C>T	c.(184-186)Cgc>Tgc	p.R62C	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.R62C|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	62	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(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)			GCTGGTGCCGCGCCTGTTCCG	0.637																																																0													38	52	47					5																	140221090		2203	4296	6499	SO:0001583	missense	56140			AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"Cadherins / Protocadherins : Clustered"	8674	other	complex locus constituent	"KIAA0345-like 6"	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.184C>T	5.37:g.140221090C>T	ENSP00000434655:p.Arg62Cys		B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.191550	0.58017	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.42131	0.98;0.98	3.95	3.0	0.34707	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.000000	0.34411	U	0.003997	T	0.69097	0.3073	H	0.98965	4.385	0.24184	N	0.995573	D;D	0.65815	0.995;0.994	P;P	0.52454	0.699;0.574	T	0.69691	-0.5077	10	0.87932	D	0	.	11.4118	0.49929	0.3094:0.6906:0.0:0.0	.	62;62	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	C	62	ENSP00000434655:R62C;ENSP00000367363:R62C	ENSP00000367363:R62C	R	+	1	0	PCDHA8	140201274	0.010000	0.17322	1.000000	0.80357	0.983000	0.72400	0.201000	0.17276	1.905000	0.55150	0.557000	0.71058	CGC		0.637	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		T	140221090	C	T	140221090	3	4	698	1	0	0	0	0	1	0	0	0	11532	768	27	1	186	1	PCDHA8	5	140221090	Missense_Mutation	SNP	C	TCGA-KL-8329-01A-11D-2310-10	2942256	140221090	40694170	21	38721											
LARP1	23367	bcgsc.ca	37	5	154173805	154173820	+	Frame_Shift_Del	DEL	ACTACATCAAGCGCCA	ACTACATCAAGCGCCA	-	rs144538564		TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	ACTACATCAAGCGCCA	ACTACATCAAGCGCCA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr5:154173805_154173820delACTACATCAAGCGCCA	ENST00000336314.4	+	7	1008_1023	c.984_999delACTACATCAAGCGCCA	c.(982-999)gaactacatcaagcgccafs	p.ELHQAP328fs		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	405					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)			TGCTCAAAGACTACATCAAGCGCCAGATGTGAGTGT	0.519																																																0																																										SO:0001589	frameshift_variant	23367			AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"La ribonucleoprotein domain containing"	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.984_999delACTACATCAAGCGCCA	5.37:g.154173805_154173820delACTACATCAAGCGCCA	ENSP00000336721:p.Glu328fs		O94836|Q8N4M2|Q8NB73|Q9UFD7	Frame_Shift_Del	DEL	ENST00000336314.4	37	CCDS4328.1																																																																																				0.519	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551		-	154173820	ACTACATCAAGCGCCA	-	154173805	7	5	698	1	0	1	0	1	0	0	0	0	8630	564	20	0	1010	0	LARP1	5	154173805	Frame_Shift_Del	DEL	ACTACATCAAGCGCCA	TCGA-KL-8329-01A-11D-2310-10	13952715	154173805	26741455	22	38722											
HLA-B	3106	mdanderson.org	37	6	31324911	31324911	+	Missense_Mutation	SNP	C	C	G	rs1050462	byFrequency	TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr6:31324911C>G	ENST00000412585.2	-	1	53	c.25G>C	c.(25-27)Gtc>Ctc	p.V9L		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	9			V -> L (in dbSNP:rs1050462).		antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						AGCAGGAGGACGGTTCGGGGC	0.692									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				.|||	1155	0.230631	0.1233	0.245	5008	,	,		8959	0.25		0.3062	False		,,,				2504	0.2679															0								C	LEU/VAL	238,3960		11,216,1872	13	12	12	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	25	2.5	0.1	6	dbSNP_86	12	981,7141		59,863,3139	yes	missense	HLA-B	NM_005514.6	32	70,1079,5011	GG,GC,CC		12.0783,5.6694,9.8945		9/363	31324911	1219,11101	2099	4061	6160	SO:0001583	missense	3106	Familial Cancer Database	;Lichen Sclerosis, Familial	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4932	protein-coding gene	gene with protein product		142830	"ankylosing spondylitis"	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.25G>C	6.37:g.31324911C>G	ENSP00000399168:p.Val9Leu		Q29764	Missense_Mutation	SNP	ENST00000412585.2	37	CCDS34394.1	494	0.2261904761904762	61	0.12398373983739837	84	0.23204419889502761	135	0.23601398601398602	214	0.28232189973614774	N	8.101	0.776701	0.16120	0.056694	0.120783	ENSG00000234745	ENST00000412585	T	0.00597	6.31	3.34	2.47	0.30058	.	0.330918	0.16642	N	0.205609	T	0.00109	0.0003	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.06405	0.002	T	0.12400	-1.0549	8	0.02654	T	1	.	8.6444	0.33996	0.0:0.237:0.763:0.0	rs1050462;rs2308334;rs3177903;rs3190781;rs9266204;rs17416898;rs17840061	9	P01889	1B07_HUMAN	L	9	ENSP00000399168:V9L	ENSP00000399168:V9L	V	-	1	0	HLA-B	31432890	0.007000	0.16637	0.054000	0.19295	0.040000	0.13550	0.447000	0.21710	0.756000	0.33013	-0.435000	0.05868	GTC		0.692	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514		G	31324911	C	G	31324911	3	3	698	1	0	0	0	0	1	0	0	0	7198	536	19	4	1091	4	HLA-B	6	31324911	Missense_Mutation	SNP	C	TCGA-KL-8329-01A-11D-2310-10		31324911	139790156	23	38723			1	68		2	2	21	N	C_A	6.525025e-05
HLA-B	3106	bcgsc.ca	37	6	31324931	31324931	+	Missense_Mutation	SNP	A	A	C	rs151341074|rs9266206	byFrequency	TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr6:31324931A>C	ENST00000412585.2	-	1	33	c.5T>G	c.(4-6)cTg>cGg	p.L2R		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	2					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						CGCCATGACCAGCATCTCGGC	0.647									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				.|||	3976	0.79393	0.7958	0.732	5008	,	,		9657	0.8462		0.7197	False		,,,				2504	0.8579															0													14	12	13					6																	31324931		2093	4077	6170	SO:0001583	missense	3106	Familial Cancer Database	;Lichen Sclerosis, Familial	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4932	protein-coding gene	gene with protein product		142830	"ankylosing spondylitis"	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.5T>G	6.37:g.31324931A>C	ENSP00000399168:p.Leu2Arg		Q29764	Missense_Mutation	SNP	ENST00000412585.2	37	CCDS34394.1	1641	0.7513736263736264	370	0.7520325203252033	254	0.7016574585635359	484	0.8461538461538461	533	0.7031662269129287	N	5.499	0.276991	0.10403	.	.	ENSG00000234745	ENST00000412585	T	0.00612	6.22	3.34	-2.25	0.06888	.	.	.	.	.	T	0.00109	0.0003	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.14727	-1.0462	7	0.16896	T	0.51	.	3.3191	0.07044	0.4438:0.2616:0.0:0.2946	rs9266206	2	P01889	1B07_HUMAN	R	2	ENSP00000399168:L2R	ENSP00000399168:L2R	L	-	2	0	HLA-B	31432910	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.210000	0.02999	-1.187000	0.02709	-1.627000	0.00785	CTG		0.647	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514		C	31324931	A	C	31324931	3	2	698	1	0	0	0	0	1	0	0	0	7198	188	7	5	1111	5	HLA-B	6	31324931	Missense_Mutation	SNP	A	TCGA-KL-8329-01A-11D-2310-10	20	31324931	139790136	24	38724			1	68		2	2	21	N	C_A	6.525025e-05
HLA-DRB5	3127	mdanderson.org	37	6	32497931	32497931	+	Missense_Mutation	SNP	G	G	A	rs147565130	byFrequency	TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr6:32497931G>A	ENST00000374975.3	-	1	133	c.71C>T	c.(70-72)tCc>tTc	p.S24F		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						AGCCAGTGGGGAGCTCAGCAC	0.557																																																0													96	100	99					6																	32497931		2203	4300	6503	SO:0001583	missense	3127				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.71C>T	6.37:g.32497931G>A	ENSP00000364114:p.Ser24Phe			Missense_Mutation	SNP	ENST00000374975.3	37	CCDS4751.1	.	.	.	.	.	.	.	.	.	.	.	11.29	1.594048	0.28445	.	.	ENSG00000198502	ENST00000374975	T	0.00267	8.38	4.32	1.46	0.22682	MHC classes I/II-like antigen recognition protein (1);	.	.	.	.	T	0.00073	0.0002	L	0.52905	1.665	0.09310	N	1	B	0.09022	0.002	B	0.12837	0.008	T	0.37454	-0.9705	9	0.62326	D	0.03	.	6.5543	0.22452	0.3227:0.0:0.6773:0.0	.	24	Q30154	DRB5_HUMAN	F	24	ENSP00000364114:S24F	ENSP00000364114:S24F	S	-	2	0	HLA-DRB5	32605909	0.001000	0.12720	0.035000	0.18076	0.177000	0.22998	1.003000	0.29809	0.461000	0.27071	0.485000	0.47835	TCC		0.557	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076022.2	NM_002125		A	32497931	G	A	32497931	3	1	698	1	0	0	0	0	1	0	0	0	7211	1174	41	2	753	2	HLA-DRB5	6	32497931	Missense_Mutation	SNP	G	TCGA-KL-8329-01A-11D-2310-10	1173000	32497931	138617136	25	38725											
CDKN1A	1026	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	6	36652171	36652171	+	Nonsense_Mutation	SNP	C	C	A			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr6:36652171C>A	ENST00000405375.1	+	2	528	c.293C>A	c.(292-294)tCa>tAa	p.S98*	CDKN1A_ENST00000448526.2_Nonsense_Mutation_p.S132*|CDKN1A_ENST00000244741.5_Nonsense_Mutation_p.S98*|CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000373711.2_Nonsense_Mutation_p.S98*	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	98					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						CCTGGCACCTCACCTGCTCTG	0.672																																																0													32	32	32					6																	36652171		2203	4300	6503	SO:0001587	stop_gained	1026			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.293C>A	6.37:g.36652171C>A	ENSP00000384849:p.Ser98*		Q14010|Q6FI05|Q9BUT4	Nonsense_Mutation	SNP	ENST00000405375.1	37	CCDS4824.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.316242	0.40996	.	.	ENSG00000124762	ENST00000448526;ENST00000244741;ENST00000405375;ENST00000373711	.	.	.	5.23	5.23	0.72850	.	0.000000	0.47852	D	0.000212	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-11.3875	14.1752	0.65537	0.0:1.0:0.0:0.0	.	.	.	.	X	132;98;98;98	.	ENSP00000244741:S98X	S	+	2	0	CDKN1A	36760149	0.052000	0.20516	0.063000	0.19743	0.107000	0.19398	2.394000	0.44450	2.724000	0.93272	0.561000	0.74099	TCA		0.672	CDKN1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040354.1	NM_078467		A	36652171	C	A	36652171	4	1	698	1	0	0	0	0	0	1	0	0	3160	838	29	4	295	4	CDKN1A	6	36652171	Nonsense_Mutation	SNP	C	TCGA-KL-8329-01A-11D-2310-10	4154240	36652171	134462896	26	38726											
AKAP12	9590	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	6	151671482	151671482	+	Silent	SNP	A	A	G			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr6:151671482A>G	ENST00000253332.1	+	3	2145	c.1956A>G	c.(1954-1956)gaA>gaG	p.E652E	AKAP12_ENST00000402676.2_Silent_p.E652E|AKAP12_ENST00000359755.5_Silent_p.E547E|AKAP12_ENST00000354675.6_Silent_p.E554E			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	652					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		CAGCCTCTGAAATGCAAGAAG	0.493																																					Melanoma(141;1616 1805 10049 24534 51979)											0													73	71	72					6																	151671482		2203	4300	6503	SO:0001819	synonymous_variant	9590			U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"A-kinase anchor proteins"	370	protein-coding gene	gene with protein product	"gravin", "Src-Suppressed C Kinase Substrate"	604698	"A kinase (PRKA) anchor protein (gravin) 12"			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.1956A>G	6.37:g.151671482A>G			O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Silent	SNP	ENST00000253332.1	37	CCDS5229.1																																																																																				0.493	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			G	151671482	A	G	151671482	2	3	698	1	0	0	0	0	0	0	0	1	448	11	1	3		3	AKAP12	6	151671482	Silent	SNP	A	TCGA-KL-8329-01A-11D-2310-10	115019311	151671482	19443585	27	38727											
FAM120B	84498	broad.mit.edu;hgsc.bcm.edu	37	6	170627576	170627576	+	Silent	SNP	C	C	T	rs542443578		TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr6:170627576C>T	ENST00000476287.1	+	2	1206	c.1098C>T	c.(1096-1098)ccC>ccT	p.P366P	FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000537664.1_Silent_p.P389P|FAM120B_ENST00000540480.1_Silent_p.P378P	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	366					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)		GAGAAGTTCCCGTGTATACAG	0.532																																																0													154	163	160					6																	170627576		2203	4300	6503	SO:0001819	synonymous_variant	84498			AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584			21109	protein-coding gene	gene with protein product	"PPARgamma constitutive coactivator 1", "constitutive coactivator of PPAR-gamma"	612266	"KIAA1838"	KIAA1838		14585507	Standard	NM_032448		Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	ENST00000476287.1:c.1098C>T	6.37:g.170627576C>T			B4DL34|Q86V68|Q96JI9	Silent	SNP	ENST00000476287.1	37	CCDS5314.1																																																																																				0.532	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000043259.2	NM_032448		T	170627576	C	T	170627576	2	4	698	1	0	0	0	0	0	0	0	1	5419	639	23	1		1	FAM120B	6	170627576	Silent	SNP	C	TCGA-KL-8329-01A-11D-2310-10	18956094	170627576	487491	28	38728											
HIBADH	11112	broad.mit.edu	37	7	27672041	27672041	+	Silent	SNP	A	A	G			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr7:27672041A>G	ENST00000265395.2	-	3	482	c.276T>C	c.(274-276)gtT>gtC	p.V92V		NM_152740.3	NP_689953.1	P31937	3HIDH_HUMAN	3-hydroxyisobutyrate dehydrogenase	92					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|pentose-phosphate shunt (GO:0006098)|small molecule metabolic process (GO:0044281)|valine catabolic process (GO:0006574)	mitochondrial matrix (GO:0005759)	3-hydroxyisobutyrate dehydrogenase activity (GO:0008442)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12			GBM - Glioblastoma multiforme(3;0.0368)			CTTTTTCAGCAACATCTGCTG	0.353																																																0													127	121	123					7																	27672041		2203	4300	6503	SO:0001819	synonymous_variant	11112			AF529362	CCDS5414.1	7p15	2009-06-12			ENSG00000106049	ENSG00000106049	1.1.1.31		4907	protein-coding gene	gene with protein product		608475					Standard	NM_152740		Approved	NS5ATP1	uc003szf.3	P31937	OTTHUMG00000097035	ENST00000265395.2:c.276T>C	7.37:g.27672041A>G			Q546Z2|Q9UDN3	Silent	SNP	ENST00000265395.2	37	CCDS5414.1	.	.	.	.	.	.	.	.	.	.	A	9.560	1.118239	0.20877	.	.	ENSG00000106049	ENST00000425715	.	.	.	5.8	3.36	0.38483	.	.	.	.	.	T	0.47002	0.1422	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.32745	-0.9895	4	.	.	.	-15.8862	3.5762	0.07936	0.1389:0.07:0.1355:0.6556	.	.	.	.	S	35	.	.	L	-	2	0	HIBADH	27638566	0.885000	0.30320	1.000000	0.80357	0.995000	0.86356	-0.081000	0.11321	0.424000	0.26061	-0.347000	0.07816	TTG		0.353	HIBADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214132.1	NM_152740		G	27672041	A	G	27672041	2	3	698	1	0	0	0	0	0	0	0	1	7101	117	5	3		3	HIBADH	7	27672041	Silent	SNP	A	TCGA-KL-8329-01A-11D-2310-10		27672041	131466622	29	38729											
KRIT1	889	hgsc.bcm.edu;ucsc.edu	37	7	91851360	91851360	+	Silent	SNP	T	T	C			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr7:91851360T>C	ENST00000340022.2	-	14	2437	c.1419A>G	c.(1417-1419)caA>caG	p.Q473Q	KRIT1_ENST00000394505.2_Silent_p.Q473Q|KRIT1_ENST00000394503.2_Silent_p.Q425Q|KRIT1_ENST00000412043.2_Silent_p.Q473Q|KRIT1_ENST00000394507.1_Silent_p.Q473Q	NM_004912.3|NM_194455.1	NP_004903.2|NP_919437.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	473	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				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)			ATGGTTTGAGTTGAAGGCCTG	0.348																																																0													101	101	101					7																	91851360		2203	4300	6503	SO:0001819	synonymous_variant	889			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.1419A>G	7.37:g.91851360T>C			A6NNU0|O43894|Q506L6|Q6U276|Q75N19|Q9H180|Q9H264|Q9HAX5	Silent	SNP	ENST00000340022.2	37	CCDS5624.1																																																																																				0.348	KRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253910.1			C	91851360	T	C	91851360	2	2	698	1	0	0	0	0	0	0	0	1	8447	1722	60	3		3	KRIT1	7	91851360	Silent	SNP	T	TCGA-KL-8329-01A-11D-2310-10	64179319	91851360	67287303	30	38730											
MUC17	140453	mdanderson.org	37	7	100684573	100684573	+	Silent	SNP	G	G	A	rs144023476	byFrequency	TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr7:100684573G>A	ENST00000306151.4	+	3	9940	c.9876G>A	c.(9874-9876)acG>acA	p.T3292T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3292	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)					GCACCACAACGGTGGCCAGTT	0.512													G|||	172	0.034345	0.0688	0.0072	5008	,	,		27204	0.0298		0.0149	False		,,,				2504	0.0317															0								G		35,4371	28.1+/-56.4	2,31,2170	331	330	330		9876	-2.6	0	7	dbSNP_134	330	5,8595	2.2+/-6.3	0,5,4295	no	coding-synonymous	MUC17	NM_001040105.1		2,36,6465	AA,AG,GG		0.0581,0.7944,0.3076		3292/4494	100684573	40,12966	2203	4300	6503	SO:0001819	synonymous_variant	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.9876G>A	7.37:g.100684573G>A			O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	CCDS34711.1																																																																																				0.512	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		A	100684573	G	A	100684573	2	1	698	1	0	0	0	0	0	0	0	1	9976	1103	39	1		1	MUC17	7	100684573	Silent	SNP	G	TCGA-KL-8329-01A-11D-2310-10	8833213	100684573	58454090	31	38731											
PRSS1	5644	mdanderson.org	37	7	142458542	142458542	+	Silent	SNP	A	A	G			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr7:142458542A>G	ENST00000311737.7	+	2	183	c.177A>G	c.(175-177)gtA>gtG	p.V59V	PRSS1_ENST00000486171.1_Silent_p.V59V	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	59	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	AGTGGGTGGTATCAGCAGGCC	0.582																																																0													83	86	85					7																	142458542		2203	4300	6503	SO:0001819	synonymous_variant	5644			M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"Serine peptidases / Serine peptidases"	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.177A>G	7.37:g.142458542A>G			A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Silent	SNP	ENST00000311737.7	37	CCDS5872.1																																																																																				0.582	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2			G	142458542	A	G	142458542	2	3	698	1	0	0	0	0	0	0	0	1	12619	436	16	3		3	PRSS1	7	142458542	Silent	SNP	A	TCGA-KL-8329-01A-11D-2310-10	41773969	142458542	16680121	32	38732	303	2									
PRSS1	5644	mdanderson.org	37	7	142458551	142458551	+	Silent	SNP	C	C	T	rs199713773		TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr7:142458551C>T	ENST00000311737.7	+	2	192	c.186C>T	c.(184-186)ggC>ggT	p.G62G	PRSS1_ENST00000486171.1_Silent_p.G62G	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	62	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	TATCAGCAGGCCACTGCTACA	0.582																																																0																																										SO:0001819	synonymous_variant	5644			M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"Serine peptidases / Serine peptidases"	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.186C>T	7.37:g.142458551C>T			A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Silent	SNP	ENST00000311737.7	37	CCDS5872.1																																																																																				0.582	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2			T	142458551	C	T	142458551	2	4	698	1	0	0	0	0	0	0	0	1	12619	726	26	2		2	PRSS1	7	142458551	Silent	SNP	C	TCGA-KL-8329-01A-11D-2310-10	9	142458551	16680112	33	38733	303	2									
PABPC1	26986	mdanderson.org	37	8	101724606	101724606	+	Missense_Mutation	SNP	G	G	A	rs202060459		TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr8:101724606G>A	ENST00000318607.5	-	7	2084	c.956C>T	c.(955-957)aCa>aTa	p.T319I	PABPC1_ENST00000519004.1_Missense_Mutation_p.T274I|PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000522387.1_Missense_Mutation_p.T287I	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	319	RRM 4. {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)	p.T319I(2)		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)			ACTAGTGATTGTACCAAATGG	0.284																																																2	Substitution - Missense(2)	kidney(1)|endometrium(1)											154	166	162					8																	101724606		2203	4298	6501	SO:0001583	missense	26986			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.956C>T	8.37:g.101724606G>A	ENSP00000313007:p.Thr319Ile		Q15097|Q93004	Missense_Mutation	SNP	ENST00000318607.5	37	CCDS6289.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.8|26.8	4.768189|4.768189	0.90020|0.90020	.|.	.|.	ENSG00000070756|ENSG00000070756	ENST00000519100|ENST00000318607;ENST00000347137;ENST00000519004;ENST00000522387	.|T;T;T	.|0.16196	.|2.36;2.36;2.36	5.65|5.65	5.65|5.65	0.86999|0.86999	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	.|0.000000	.|0.64402	.|D	.|0.000009	.|T	.|0.37652	.|0.1011	M|M	0.62154|0.62154	1.92|1.92	0.80722|0.80722	D|D	1|1	.|P;P;D	.|0.54964	.|0.917;0.784;0.969	.|P;B;P	.|0.56916	.|0.747;0.442;0.809	.|T	.|0.03784	.|-1.1004	.|10	.|0.87932	.|D	.|0	.|.	20.0919|20.0919	0.97823|0.97823	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|287;319;319	.|E7ERJ7;B3KT93;P11940	.|.;.;PABP1_HUMAN	X|I	188|319;319;274;287	.|ENSP00000313007:T319I;ENSP00000429594:T274I;ENSP00000429395:T287I	.|ENSP00000313007:T319I	Q|T	-|-	1|2	0|0	PABPC1|PABPC1	101793782|101793782	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.776000|9.776000	0.99001|0.99001	2.824000|2.824000	0.97209|0.97209	0.655000|0.655000	0.94253|0.94253	CAA|ACA		0.284	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568		A	101724606	G	A	101724606	3	1	698	1	0	0	0	0	1	0	0	0	11365	1377	48	2	986	2	PABPC1	8	101724606	Missense_Mutation	SNP	G	TCGA-KL-8329-01A-11D-2310-10		101724606	44639416	34	38734											
SPATC1	375686	broad.mit.edu	37	8	145095684	145095685	+	Frame_Shift_Ins	INS	-	-	C	rs564781160	byFrequency	TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr8:145095684_145095685insC	ENST00000377470.3	+	3	1084_1085	c.982_983insC	c.(982-984)accfs	p.T328fs	SPATC1_ENST00000447830.2_Frame_Shift_Ins_p.T328fs	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	328						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)			ctcccccaccacctcccccacg	0.668																																																0																																										SO:0001589	frameshift_variant	375686			BC053547	CCDS6413.2, CCDS47937.1	8q24.3	2005-01-11			ENSG00000186583	ENSG00000186583			30510	protein-coding gene	gene with protein product		610874				15280373	Standard	NM_198572		Approved	MGC61633, SPATA15, SPERIOLIN	uc011lkw.2	Q76KD6	OTTHUMG00000156976	ENST00000377470.3:c.984dupC	8.37:g.145095686_145095686dupC	ENSP00000366690:p.Thr328fs		B4DWW9|Q5U5I8|Q7Z6L7	Frame_Shift_Ins	INS	ENST00000377470.3	37	CCDS6413.2																																																																																				0.668	SPATC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346926.1	NM_198572		C	145095685	-	C	145095684	7	5	698	1	0	1	1	0	0	0	0	0	15022	159	6	0	992	0	SPATC1	8	145095684	Frame_Shift_Ins	INS	-	TCGA-KL-8329-01A-11D-2310-10	43371078	145095684	1268338	35	38735											
PLAA	9373	broad.mit.edu;mdanderson.org;bcgsc.ca	37	9	26905845	26905845	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr9:26905845C>T	ENST00000397292.3	-	14	2469	c.2052G>A	c.(2050-2052)atG>atA	p.M684I		NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	684	PUL. {ECO:0000255|PROSITE- ProRule:PRU00729}.				inflammatory response (GO:0006954)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	phospholipase A2 activator activity (GO:0016005)			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		TTGCATGGGACATCAGTGATT	0.433																																					Melanoma(175;2670 2735 14091 35526)											0													108	99	102					9																	26905845		2203	4300	6503	SO:0001583	missense	9373			AF083395	CCDS35000.1	9p21	2013-01-10			ENSG00000137055	ENSG00000137055		"WD repeat domain containing"	9043	protein-coding gene	gene with protein product	"DOA1 homolog (S. cerevisiae)"	603873				9931468, 10644453	Standard	NM_001031689		Approved	PLAP, PLA2P, FLJ11281, FLJ12699, DOA1	uc003zqd.3	Q9Y263	OTTHUMG00000019708	ENST00000397292.3:c.2052G>A	9.37:g.26905845C>T	ENSP00000380460:p.Met684Ile		Q53EU5|Q5VY33|Q9NUL8|Q9NVE9|Q9UF53|Q9Y5L1	Missense_Mutation	SNP	ENST00000397292.3	37	CCDS35000.1	.	.	.	.	.	.	.	.	.	.	C	11.37	1.618083	0.28801	.	.	ENSG00000137055	ENST00000397292	T	0.39997	1.05	6.07	2.18	0.27775	PUL (2);	0.415874	0.33419	N	0.004929	T	0.14570	0.0352	N	0.02011	-0.69	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.04017	-1.0984	10	0.30854	T	0.27	-1.6509	5.2914	0.15729	0.1323:0.6012:0.0:0.2664	.	684	Q9Y263	PLAP_HUMAN	I	684	ENSP00000380460:M684I	ENSP00000380460:M684I	M	-	3	0	PLAA	26895845	0.996000	0.38824	0.994000	0.49952	0.995000	0.86356	0.479000	0.22228	0.435000	0.26365	-0.140000	0.14226	ATG		0.433	PLAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051958.2	NM_001031689		T	26905845	C	T	26905845	3	4	698	1	0	0	0	0	1	0	0	0	12013	478	17	2	339	2	PLAA	9	26905845	Missense_Mutation	SNP	C	TCGA-KL-8329-01A-11D-2310-10		26905845	114307586	36	38736											
KIF24	347240	mdanderson.org	37	9	34310782	34310782	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr9:34310782A>G	ENST00000402558.2	-	1	587	c.563T>C	c.(562-564)aTt>aCt	p.I188T	KIF24_ENST00000379166.2_Missense_Mutation_p.I188T|KIF24_ENST00000345050.2_Missense_Mutation_p.I188T|KIF24_ENST00000379174.3_Missense_Mutation_p.I188T			Q5T7B8	KIF24_HUMAN	kinesin family member 24	188					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)			TCTTTGAATAATGGGAATATC	0.368																																																0													140	134	136					9																	34310782		1844	4097	5941	SO:0001583	missense	347240			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.563T>C	9.37:g.34310782A>G	ENSP00000384433:p.Ile188Thr		Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Missense_Mutation	SNP	ENST00000402558.2	37	CCDS6551.2	.	.	.	.	.	.	.	.	.	.	A	12.13	1.845864	0.32606	.	.	ENSG00000186638	ENST00000402558;ENST00000379174;ENST00000379166;ENST00000345050;ENST00000420188	T;T;T;T	0.72394	-0.41;-0.65;-0.41;-0.65	5.48	1.37	0.22104	.	0.756495	0.11337	N	0.574500	T	0.61261	0.2333	L	0.50333	1.59	0.21841	N	0.999512	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.52961	-0.8505	10	0.49607	T	0.09	.	6.6848	0.23138	0.7316:0.0:0.1496:0.1188	.	188;188	Q5T7B8-4;Q5T7B8	.;KIF24_HUMAN	T	188	ENSP00000384433:I188T;ENSP00000368472:I188T;ENSP00000368464:I188T;ENSP00000340179:I188T	ENSP00000340179:I188T	I	-	2	0	KIF24	34300782	0.691000	0.27709	0.986000	0.45419	0.971000	0.66376	1.175000	0.31944	0.368000	0.24481	-0.280000	0.10049	ATT		0.368	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052150.5			G	34310782	A	G	34310782	3	3	698	1	0	0	0	0	1	0	0	0	8294	101	4	3	3591	3	KIF24	9	34310782	Missense_Mutation	SNP	A	TCGA-KL-8329-01A-11D-2310-10	7404937	34310782	106902649	37	38737											
CNTNAP3	79937	broad.mit.edu	37	9	39178299	39178299	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr9:39178299delT	ENST00000297668.6	-	5	670	c.597delA	c.(595-597)aaafs	p.K199fs	CNTNAP3_ENST00000377659.1_Frame_Shift_Del_p.K199fs|CNTNAP3_ENST00000323947.7_Frame_Shift_Del_p.K199fs|CNTNAP3_ENST00000377656.2_Frame_Shift_Del_p.K199fs|CNTNAP3_ENST00000377653.2_5'UTR|CNTNAP3_ENST00000358144.2_Frame_Shift_Del_p.K111fs	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	199	Laminin G-like 1. {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)		GTTTTAAAGGTTTTTTATCAA	0.313																																																0													83	92	89					9																	39178299		2202	4294	6496	SO:0001589	frameshift_variant	79937			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.597delA	9.37:g.39178299delT	ENSP00000297668:p.Lys199fs		B1AMA0|Q9C0E9	Frame_Shift_Del	DEL	ENST00000297668.6	37	CCDS6616.1																																																																																				0.313	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	NM_033655		-	39178299	T	-	39178299	7	5	698	1	0	1	0	1	0	0	0	0	3650	1722	60	0	3349	0	CNTNAP3	9	39178299	Frame_Shift_Del	DEL	T	TCGA-KL-8329-01A-11D-2310-10	4867517	39178299	102035132	38	38738											
C9orf79	286234	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	9	90502738	90502738	+	Silent	SNP	G	G	T			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr9:90502738G>T	ENST00000325643.5	+	4	3402	c.3336G>T	c.(3334-3336)ctG>ctT	p.L1112L		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	1112					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											AGGAGCAGCTGCCAGGCCGTG	0.637																																																0													36	39	38					9																	90502738		2203	4300	6503	SO:0001819	synonymous_variant	286234			AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 79", "family with sequence similarity 75, member E1"	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.3336G>T	9.37:g.90502738G>T			B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Silent	SNP	ENST00000325643.5	37	CCDS6676.1																																																																																				0.637	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		T	90502738	G	T	90502738	2	4	698	1	0	0	0	0	0	0	0	1	2499	1306	46	4		4	C9orf79	9	90502738	Silent	SNP	G	TCGA-KL-8329-01A-11D-2310-10	51324439	90502738	50710693	39	38739											
KIAA1529	100499483	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	9	100126382	100126382	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr9:100126382C>T	ENST00000357054.1	+	41	4854	c.3919C>T	c.(3919-3921)Ctt>Ttt	p.L1307F	CCDC180_ENST00000529487.1_Missense_Mutation_p.L1362F|MIR1302-8_ENST00000408342.1_RNA|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000375202.2_Missense_Mutation_p.L1362F|CCDC180_ENST00000395220.1_3'UTR			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	1307						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											GTACCGGGTGCTTGGGGACAA	0.557																																																0													58	51	54					9																	100126382		2203	4300	6503	SO:0001583	missense	100499483			AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"Behcet's Disease Associated Gene 1"		"KIAA1529", "chromosome 9 open reading frame 174"	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.3919C>T	9.37:g.100126382C>T	ENSP00000349562:p.Leu1307Phe		Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	ENST00000357054.1	37		.	.	.	.	.	.	.	.	.	.	C	6.712	0.500137	0.12762	.	.	ENSG00000197816	ENST00000357054;ENST00000375202;ENST00000529487	T;T;T	0.05717	3.4;3.46;3.46	4.72	3.81	0.43845	.	0.225624	0.34362	N	0.004021	T	0.04407	0.0121	L	0.35288	1.05	0.80722	D	1	B;B	0.23854	0.043;0.092	B;B	0.20184	0.019;0.028	T	0.35351	-0.9792	10	0.10111	T	0.7	-12.1648	7.8778	0.29603	0.0:0.8917:0.0:0.1083	.	1501;1307	B7ZMG3;Q9P1Z9	.;CI174_HUMAN	F	1307;1362;1362	ENSP00000349562:L1307F;ENSP00000364348:L1362F;ENSP00000434727:L1362F	ENSP00000349562:L1307F	L	+	1	0	C9orf174	99166203	0.981000	0.34729	0.992000	0.48379	0.518000	0.34316	1.281000	0.33214	2.560000	0.86352	0.655000	0.94253	CTT		0.557	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		T	100126382	C	T	100126382	3	4	698	1	0	0	0	0	1	0	0	0	8242	797	28	2	4037	2	KIAA1529	9	100126382	Missense_Mutation	SNP	C	TCGA-KL-8329-01A-11D-2310-10	9623644	100126382	41087049	40	38740											
OR13C5	138799	mdanderson.org	37	9	107361111	107361111	+	Missense_Mutation	SNP	T	T	C	rs6479259	byFrequency	TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr9:107361111T>C	ENST00000374779.2	-	1	677	c.584A>G	c.(583-585)aAt>aGt	p.N195S		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	195			N -> S (in dbSNP:rs6479259).			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						GATGAACTCATTGCCTGAGAT	0.373													T|||	669	0.133586	0.3676	0.0504	5008	,	,		24620	0.0704		0.007	False		,,,				2504	0.0716															0								T	SER/ASN	1329,3077	446.5+/-348.0	197,935,1071	191	175	180		584	-4.1	0	9	dbSNP_116	180	35,8565	24.0+/-70.4	0,35,4265	yes	missense	OR13C5	NM_001004482.1	46	197,970,5336	CC,CT,TT		0.407,30.1634,10.4875	probably-damaging	195/319	107361111	1364,11642	2203	4300	6503	SO:0001583	missense	138799				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.584A>G	9.37:g.107361111T>C	ENSP00000363911:p.Asn195Ser		B2RNE5|B9EGW5|Q6IF53	Missense_Mutation	SNP	ENST00000374779.2	37	CCDS35091.1	202	0.0924908424908425	155	0.3150406504065041	8	0.022099447513812154	35	0.06118881118881119	4	0.005277044854881266	T	15.48	2.846604	0.51164	0.301634	0.00407	ENSG00000255800	ENST00000374779	T	0.00211	8.54	4.17	-4.11	0.03928	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39407	U	0.001380	T	0.00012	0.0000	L	0.58101	1.795	0.80722	P	0.0	D	0.59357	0.985	D	0.63283	0.913	T	0.43442	-0.9391	9	0.62326	D	0.03	.	10.4853	0.44717	0.6686:0.0:0.0:0.3314	rs6479259;rs52801984;rs6479259	195	Q8NGS8	O13C5_HUMAN	S	195	ENSP00000363911:N195S	ENSP00000363911:N195S	N	-	2	0	OR13C5	106400932	0.000000	0.05858	0.000000	0.03702	0.315000	0.28087	-0.658000	0.05329	-1.031000	0.03308	0.433000	0.28618	AAT		0.373	OR13C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053479.2	NM_001004482		C	107361111	T	C	107361111	3	2	698	1	0	0	0	0	1	0	0	0	10939	1493	52	3	374	3	OR13C5	9	107361111	Missense_Mutation	SNP	T	TCGA-KL-8329-01A-11D-2310-10	7234729	107361111	33852320	41	38741											
ZNF462	58499	broad.mit.edu	37	9	109690574	109690575	+	Frame_Shift_Ins	INS	-	-	C	rs76760064		TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr9:109690574_109690575insC	ENST00000277225.5	+	3	4670_4671	c.4381_4382insC	c.(4381-4383)gccfs	p.A1461fs	ZNF462_ENST00000441147.2_Frame_Shift_Ins_p.A306fs|ZNF462_ENST00000457913.1_Frame_Shift_Ins_p.A1461fs			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1461					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						GCTAGCTTCAGCCAACCCCGCC	0.52																																																0																																										SO:0001589	frameshift_variant	58499			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.4383dupC	9.37:g.109690576_109690576dupC	ENSP00000277225:p.Ala1461fs		Q5T0T4|Q8N408	Frame_Shift_Ins	INS	ENST00000277225.5	37	CCDS35096.1																																																																																				0.52	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		C	109690575	-	C	109690574	7	5	698	1	0	1	1	0	0	0	0	0	17931	971	34	0	4387	0	ZNF462	9	109690574	Frame_Shift_Ins	INS	-	TCGA-KL-8329-01A-11D-2310-10	2329463	109690574	31522857	42	38742											
COL27A1	85301	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	9	117052528	117052528	+	Missense_Mutation	SNP	C	C	T	rs200170613		TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr9:117052528C>T	ENST00000356083.3	+	47	4676	c.4285C>T	c.(4285-4287)Cgg>Tgg	p.R1429W		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1429	Collagen-like 13.|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						GCCAGGGCCCCGGGGCGTGGT	0.692													C|||	1	0.000199681	0.0	0.0	5008	,	,		12464	0.0		0.0	False		,,,				2504	0.001															0								C	TRP/ARG	0,4344		0,0,2172	11	11	11		4285	3.4	0.9	9		11	2,8506		0,2,4252	no	missense	COL27A1	NM_032888.2	101	0,2,6424	TT,TC,CC		0.0235,0.0,0.0156	probably-damaging	1429/1861	117052528	2,12850	2172	4254	6426	SO:0001583	missense	85301			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.4285C>T	9.37:g.117052528C>T	ENSP00000348385:p.Arg1429Trp		Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	C	17.31	3.357598	0.61293	0.0	2.35E-4	ENSG00000196739	ENST00000356083;ENST00000357257	D	0.96200	-3.94	5.32	3.4	0.38934	.	.	.	.	.	D	0.97232	0.9095	M	0.92507	3.315	0.40675	D	0.982257	D	0.76494	0.999	P	0.54856	0.762	D	0.96917	0.9671	9	0.72032	D	0.01	.	11.5638	0.50794	0.5039:0.4961:0.0:0.0	.	1429	Q8IZC6	CORA1_HUMAN	W	1429	ENSP00000348385:R1429W	ENSP00000348385:R1429W	R	+	1	2	COL27A1	116092349	0.123000	0.22298	0.933000	0.37362	0.691000	0.40173	0.324000	0.19610	0.537000	0.28751	0.491000	0.48974	CGG		0.692	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		T	117052528	C	T	117052528	3	4	698	1	0	0	0	0	1	0	0	0	3687	643	23	1	4471	1	COL27A1	9	117052528	Missense_Mutation	SNP	C	TCGA-KL-8329-01A-11D-2310-10	7361954	117052528	24160903	43	38743											
TNC	3371	broad.mit.edu	37	9	117838693	117838694	+	Frame_Shift_Ins	INS	-	-	T			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr9:117838693_117838694insT	ENST00000350763.4	-	8	3246_3247	c.2835_2836insA	c.(2833-2838)caagccfs	p.A946fs	TNC_ENST00000423613.2_Frame_Shift_Ins_p.A946fs|TNC_ENST00000346706.3_Frame_Shift_Ins_p.A946fs|TNC_ENST00000340094.3_Frame_Shift_Ins_p.A946fs|TNC_ENST00000542877.1_Frame_Shift_Ins_p.A946fs|TNC_ENST00000345230.3_Frame_Shift_Ins_p.A946fs|TNC_ENST00000535648.1_Frame_Shift_Ins_p.A946fs|TNC_ENST00000537320.1_Frame_Shift_Ins_p.A946fs|TNC_ENST00000341037.4_Frame_Shift_Ins_p.A946fs	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	946	Fibronectin type-III 4. {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						TTGGTTGTGGCTTGTTGGCTCT	0.535																																																0																																										SO:0001589	frameshift_variant	3371				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.2836dupA	9.37:g.117838695_117838695dupT	ENSP00000265131:p.Ala946fs		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Frame_Shift_Ins	INS	ENST00000350763.4	37	CCDS6811.1																																																																																				0.535	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		T	117838694	-	T	117838693	7	5	698	1	0	1	1	0	0	0	0	0	16275	797	28	0	3853	0	TNC	9	117838693	Frame_Shift_Ins	INS	-	TCGA-KL-8329-01A-11D-2310-10	786165	117838693	23374738	44	38744											
OR1Q1	158131	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	9	125377830	125377830	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr9:125377830C>T	ENST00000297913.2	+	1	883	c.814C>T	c.(814-816)Cgc>Tgc	p.R272C	RP11-64P14.7_ENST00000431442.1_RNA	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q, member 1	272					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						GACCAAGGGTCGCATTATAAC	0.527																																																0													66	64	65					9																	125377830		2203	4300	6503	SO:0001583	missense	158131				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.814C>T	9.37:g.125377830C>T	ENSP00000297913:p.Arg272Cys		Q6IFN4|Q8NGR7|Q96R82	Missense_Mutation	SNP	ENST00000297913.2	37	CCDS35125.1	.	.	.	.	.	.	.	.	.	.	C	11.21	1.572804	0.28092	.	.	ENSG00000165202	ENST00000297913	T	0.00130	8.69	5.57	4.67	0.58626	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000117	T	0.00552	0.0018	M	0.88640	2.97	0.19300	N	0.99997	D	0.89917	1.0	D	0.78314	0.991	T	0.29397	-1.0013	10	0.66056	D	0.02	-7.5851	13.5884	0.61944	0.1563:0.8437:0.0:0.0	.	272	Q15612	OR1Q1_HUMAN	C	272	ENSP00000297913:R272C	ENSP00000297913:R272C	R	+	1	0	OR1Q1	124417651	0.000000	0.05858	0.103000	0.21229	0.226000	0.24999	0.473000	0.22132	1.569000	0.49696	0.650000	0.86243	CGC		0.527	OR1Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053946.1			T	125377830	C	T	125377830	3	4	698	1	0	0	0	0	1	0	0	0	10973	884	31	1	816	1	OR1Q1	9	125377830	Missense_Mutation	SNP	C	TCGA-KL-8329-01A-11D-2310-10	7539137	125377830	15835601	45	38745											
NR5A1	2516	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	9	127262905	127262905	+	Missense_Mutation	SNP	G	G	T			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr9:127262905G>T	ENST00000373588.4	-	4	530	c.334C>A	c.(334-336)Cag>Aag	p.Q112K		NM_004959.4	NP_004950.2	Q13285	STF1_HUMAN	nuclear receptor subfamily 5, group A, member 1	112					adrenal gland development (GO:0030325)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|hormone metabolic process (GO:0042445)|intracellular receptor signaling pathway (GO:0030522)|luteinization (GO:0001553)|maintenance of protein location in nucleus (GO:0051457)|male gonad development (GO:0008584)|multicellular organismal aging (GO:0010259)|negative regulation of female gonad development (GO:2000195)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|primary sex determination (GO:0007538)|regulation of steroid biosynthetic process (GO:0050810)|tissue development (GO:0009888)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|phospholipid binding (GO:0005543)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			lung(1)|upper_aerodigestive_tract(1)	2						GCCCGAATCTGTGCCTTCTTC	0.677																																																0													38	41	40					9																	127262905		2138	4122	6260	SO:0001583	missense	2516			D88155	CCDS6856.1	9q33	2013-01-16			ENSG00000136931	ENSG00000136931		"Nuclear hormone receptors"	7983	protein-coding gene	gene with protein product		184757		FTZF1		7789992	Standard	NM_004959		Approved	FTZ1, SF-1, ELP, AD4BP	uc004boo.1	Q13285	OTTHUMG00000020655	ENST00000373588.4:c.334C>A	9.37:g.127262905G>T	ENSP00000362690:p.Gln112Lys		O15196|Q5T6F5	Missense_Mutation	SNP	ENST00000373588.4	37	CCDS6856.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.974805	0.34848	.	.	ENSG00000136931	ENST00000373588;ENST00000455734	D;D	0.93906	-3.31;-3.31	4.54	2.67	0.31697	Nuclear hormone receptor, ligand-binding (1);	0.218465	0.38778	N	0.001565	D	0.84151	0.5409	L	0.29908	0.895	0.28408	N	0.91831	B	0.06786	0.001	B	0.04013	0.001	T	0.67405	-0.5679	10	0.05525	T	0.97	.	7.0038	0.24826	0.2787:0.0:0.7213:0.0	.	112	Q13285	STF1_HUMAN	K	112	ENSP00000362690:Q112K;ENSP00000393245:Q112K	ENSP00000362690:Q112K	Q	-	1	0	NR5A1	126302726	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	2.343000	0.44001	0.897000	0.36392	0.561000	0.74099	CAG		0.677	NR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054029.1	NM_004959		T	127262905	G	T	127262905	3	4	698	1	0	0	0	0	1	0	0	0	10637	1386	48	4	1067	4	NR5A1	9	127262905	Missense_Mutation	SNP	G	TCGA-KL-8329-01A-11D-2310-10	1885075	127262905	13950526	46	38746											
OBP2B	29989	mdanderson.org	37	9	136083528	136083528	+	Missense_Mutation	SNP	T	T	A	rs3192921	byFrequency	TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr9:136083528T>A	ENST00000372034.3	-	3	310	c.269A>T	c.(268-270)tAc>tTc	p.Y90F	OBP2B_ENST00000461961.1_5'UTR|OBP2B_ENST00000372032.2_Silent_p.I45I	NM_014581.2	NP_055396.1	Q9NPH6	OBP2B_HUMAN	odorant binding protein 2B	90					chemosensory behavior (GO:0007635)|sensory perception of smell (GO:0007608)|transport (GO:0006810)	extracellular region (GO:0005576)	odorant binding (GO:0005549)			central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7				OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)		ACAGGCGCTGTATTTGCCAGG	0.642																																																0													60	58	59					9																	136083528		2203	4300	6503	SO:0001583	missense	29989			AJ251026	CCDS6961.1	9q34	2014-01-22			ENSG00000171102	ENSG00000171102		"Lipocalins"	23381	protein-coding gene	gene with protein product		604606					Standard	NM_001288987		Approved	hOBPIIb, LCN14	uc004ccz.3	Q9NPH6	OTTHUMG00000020860	ENST00000372034.3:c.269A>T	9.37:g.136083528T>A	ENSP00000361104:p.Tyr90Phe		Q5VSP6|Q9NY51|Q9NY52	Missense_Mutation	SNP	ENST00000372034.3	37	CCDS6961.1	.	.	.	.	.	.	.	.	.	.	A	0.025	-1.376984	0.01214	.	.	ENSG00000171102	ENST00000372034	T	0.06849	3.25	1.91	0.679	0.17975	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.188123	0.26062	N	0.026576	T	0.04543	0.0124	N	0.24115	0.695	0.19945	N	0.999945	B	0.33000	0.393	B	0.37731	0.257	T	0.39881	-0.9592	10	0.02654	T	1	-47.8449	5.6514	0.17618	0.2549:0.0:0.0:0.7451	rs3192921;rs17417803	90	Q9NPH6	OBP2B_HUMAN	F	90	ENSP00000361104:Y90F	ENSP00000361104:Y90F	Y	-	2	0	OBP2B	135073349	0.001000	0.12720	0.123000	0.21794	0.003000	0.03518	-0.353000	0.07691	-0.219000	0.10003	-1.992000	0.00449	TAC		0.642	OBP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054851.1	NM_014581		A	136083528	T	A	136083528	3	1	698	1	0	0	0	0	1	0	0	0	10813	1638	57	5	259	5	OBP2B	9	136083528	Missense_Mutation	SNP	T	TCGA-KL-8329-01A-11D-2310-10	8820623	136083528	5129903	47	38747											
CSGALNACT2	55454	mdanderson.org	37	10	43659338	43659339	+	Missense_Mutation	DNP	CT	CT	TG	rs114078794|rs78146682	byFrequency	TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr10:43659338_43659339CT>TG	ENST00000374466.3	+	5	1340_1341	c.1005_1006CT>TG	c.(1003-1008)acCTtg>acTGtg	p.L336V		NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	336					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050652)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)	p.T335T(3)		endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ACAATTACACCTTGGTCTCATT	0.401																																																3	Substitution - coding silent(3)	endometrium(3)																																								SO:0001583	missense	55454			AF116646	CCDS7201.1	10q11.21	2013-02-19			ENSG00000169826	ENSG00000169826		"Beta 4-glycosyltransferases"	24292	protein-coding gene	gene with protein product	"chondroitin beta1,4 N-acetylgalactosaminyltransferase 2"					12446672	Standard	NM_018590		Approved	GALNACT2, MGC40204, PRO0082, GALNACT-2	uc001jan.4	Q8N6G5	OTTHUMG00000018023	Exception_encountered	10.37:g.43659338_43659339delinsTG	ENSP00000363590:p.Leu336Val		B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Missense_Mutation	DNP	ENST00000374466.3	37	CCDS7201.1																																																																																				0.401	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047693.1	NM_018590		TG	43659339	CT	TG	43659338	3	4	698	1	0	0	0	0	1	0	0	0	3941	668	24	2	1019	2	CSGALNACT2	10	43659338	Missense_Mutation	DNP	CT	TCGA-KL-8329-01A-11D-2310-10		43659338	91875409	48	38748											
CSGALNACT2	55454	mdanderson.org	37	10	43659372	43659372	+	Nonsense_Mutation	SNP	C	C	T	rs76607193	byFrequency	TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr10:43659372C>T	ENST00000374466.3	+	5	1374	c.1039C>T	c.(1039-1041)Cga>Tga	p.R347*		NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	347					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050652)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)	p.R347*(1)		endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TAATCGTGGACGAGGACTAAA	0.408																																																1	Substitution - Nonsense(1)	skin(1)											191	181	184					10																	43659372		2203	4300	6503	SO:0001587	stop_gained	55454			AF116646	CCDS7201.1	10q11.21	2013-02-19			ENSG00000169826	ENSG00000169826		"Beta 4-glycosyltransferases"	24292	protein-coding gene	gene with protein product	"chondroitin beta1,4 N-acetylgalactosaminyltransferase 2"					12446672	Standard	NM_018590		Approved	GALNACT2, MGC40204, PRO0082, GALNACT-2	uc001jan.4	Q8N6G5	OTTHUMG00000018023	ENST00000374466.3:c.1039C>T	10.37:g.43659372C>T	ENSP00000363590:p.Arg347*		B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Nonsense_Mutation	SNP	ENST00000374466.3	37	CCDS7201.1	.	.	.	.	.	.	.	.	.	.	C	41	8.712957	0.98925	.	.	ENSG00000169826	ENST00000374466	.	.	.	6.08	4.19	0.49359	.	0.110120	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	-3.2438	15.5126	0.75795	0.253:0.747:0.0:0.0	.	.	.	.	X	347	.	ENSP00000363590:R347X	R	+	1	2	CSGALNACT2	42979378	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	1.226000	0.32563	0.852000	0.35287	0.591000	0.81541	CGA		0.408	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047693.1	NM_018590		T	43659372	C	T	43659372	4	4	698	1	0	0	0	0	0	1	0	0	3941	528	19	1	1053	1	CSGALNACT2	10	43659372	Nonsense_Mutation	SNP	C	TCGA-KL-8329-01A-11D-2310-10	34	43659372	91875375	49	38749											
ZNF365	22891	hgsc.bcm.edu;ucsc.edu	37	10	64415147	64415147	+	Silent	SNP	A	A	T			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr10:64415147A>T	ENST00000395251.1	+	4	481	c.147A>T	c.(145-147)ccA>ccT	p.P49P	ZNF365_ENST00000395249.1_Intron|ZNF365_ENST00000410046.3_Intron|AC067751.1_ENST00000579246.1_RNA	NM_199452.3	NP_955524	Q70YC4	TALAN_HUMAN	zinc finger protein 365	49										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					TAAAGAAGCCACTGATGAAAC	0.478																																																0													72	68	70					10																	64415147		2203	4300	6503	SO:0001819	synonymous_variant	22891			AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"Zinc fingers, C2H2-type"	18194	protein-coding gene	gene with protein product	"Talanin"	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395251.1:c.147A>T	10.37:g.64415147A>T				Silent	SNP	ENST00000395251.1	37	CCDS7265.1																																																																																				0.478	ZNF365-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277036.1	NM_014951		T	64415147	A	T	64415147	2	4	698	1	0	0	0	0	0	0	0	1	17874	146	6	5		5	ZNF365	10	64415147	Silent	SNP	A	TCGA-KL-8329-01A-11D-2310-10	20755775	64415147	71119600	50	38750											
PTEN	5728	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	10	89717769	89717769	+	Missense_Mutation	SNP	T	T	A	rs121913289		TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr10:89717769T>A	ENST00000371953.3	+	7	2151	c.794T>A	c.(793-795)cTa>cAa	p.L265Q	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	265	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.M264fs*8(2)|p.G165_*404del(1)|p.?(1)|p.D268fs*30(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)		AACAAGATGCTAAAAAAGGTT	0.348		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	phosphatase and tensin homolog gene		"L, E, M, O"	51	Whole gene deletion(37)|Deletion - Frameshift(11)|Deletion - In frame(1)|Insertion - Frameshift(1)|Unknown(1)	prostate(16)|central_nervous_system(10)|skin(6)|lung(4)|ovary(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|endometrium(2)|urinary_tract(2)|soft_tissue(1)											83	77	79					10																	89717769		2203	4300	6503	SO:0001583	missense	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.794T>A	10.37:g.89717769T>A	ENSP00000361021:p.Leu265Gln		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	T	17.38	3.374547	0.61735	.	.	ENSG00000171862	ENST00000371953	D	0.85339	-1.97	5.15	5.15	0.70609	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.111163	0.64402	D	0.000012	D	0.82346	0.5017	L	0.34521	1.04	0.48040	D	0.999571	B	0.33826	0.427	B	0.42827	0.399	T	0.79605	-0.1734	9	.	.	.	-6.9851	14.9657	0.71193	0.0:0.0:0.0:1.0	.	265	P60484	PTEN_HUMAN	Q	265	ENSP00000361021:L265Q	.	L	+	2	0	PTEN	89707749	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.661000	0.83786	1.928000	0.55862	0.477000	0.44152	CTA		0.348	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		A	89717769	T	A	89717769	3	1	698	1	0	0	0	0	1	0	0	0	12743	1522	53	5	820	5	PTEN	10	89717769	Missense_Mutation	SNP	T	TCGA-KL-8329-01A-11D-2310-10	25302622	89717769	45816978	51	38751											
PDCD4	27250	ucsc.edu	37	10	112657808	112657808	+	Missense_Mutation	SNP	G	G	C	rs148548339		TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr10:112657808G>C	ENST00000280154.7	+	12	1646	c.1372G>C	c.(1372-1374)Gaa>Caa	p.E458Q	MIR4680_ENST00000580906.1_RNA|BBIP1_ENST00000605265.1_5'Flank|PDCD4_ENST00000393104.2_Missense_Mutation_p.E447Q	NM_001199492.1|NM_014456.4	NP_001186421.1|NP_055271.2	Q53EL6	PDCD4_HUMAN	programmed cell death 4 (neoplastic transformation inhibitor)	458					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)		TTTTGTAAGCGAAGGAGATGG	0.303																																					Ovarian(115;1498 1603 9363 40056 40885)											0													86	90	89					10																	112657808		2203	4300	6503	SO:0001583	missense	27250			U83908	CCDS7567.1, CCDS44478.1	10q24	2008-08-01			ENSG00000150593	ENSG00000150593			8763	protein-coding gene	gene with protein product	"nuclear antigen H731"	608610				9759869	Standard	NM_014456		Approved	H731	uc001kzh.3	Q53EL6	OTTHUMG00000019048	ENST00000280154.7:c.1372G>C	10.37:g.112657808G>C	ENSP00000280154:p.Glu458Gln		B2RCV4|B5ME91|O15501|Q5VZS6|Q6PJI5|Q8TAR5|Q99834	Missense_Mutation	SNP	ENST00000280154.7	37	CCDS7567.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.639851	0.87760	.	.	ENSG00000150593	ENST00000280154;ENST00000393104	T;T	0.58060	0.36;0.4	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.77253	0.4103	M	0.83384	2.64	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	0.78590	-0.2145	10	0.87932	D	0	-25.6209	20.5568	0.99304	0.0:0.0:1.0:0.0	.	444;458;447	B4DKX4;Q53EL6;B5ME91	.;PDCD4_HUMAN;.	Q	458;447	ENSP00000280154:E458Q;ENSP00000376816:E447Q	ENSP00000280154:E458Q	E	+	1	0	PDCD4	112647798	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.003000	0.93577	2.861000	0.98227	0.655000	0.94253	GAA		0.303	PDCD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050361.1	NM_014456		C	112657808	G	C	112657808	3	2	698	1	0	0	0	0	1	0	0	0	11623	1059	37	4	1428	4	PDCD4	10	112657808	Missense_Mutation	SNP	G	TCGA-KL-8329-01A-11D-2310-10	22940039	112657808	22876939	52	38752											
MUC6	4588	mdanderson.org	37	11	1017966	1017966	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr11:1017966A>G	ENST00000421673.2	-	31	4885	c.4835T>C	c.(4834-4836)cTt>cCt	p.L1612P		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1612	Approximate repeats.|Pro-rich.|Thr-rich.				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)		GTGAGTGGGAAGTGTGGTCTG	0.547																																																0													475	445	455					11																	1017966		2191	4283	6474	SO:0001583	missense	4588			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.4835T>C	11.37:g.1017966A>G	ENSP00000406861:p.Leu1612Pro		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	A	5.280	0.237104	0.10023	.	.	ENSG00000184956	ENST00000421673	T	0.20738	2.05	2.39	-4.77	0.03219	.	.	.	.	.	T	0.15003	0.0362	L	0.49126	1.545	0.09310	N	1	B	0.26081	0.141	B	0.28305	0.088	T	0.34750	-0.9816	9	0.30078	T	0.28	.	4.2322	0.10608	0.4312:0.3355:0.2332:0.0	.	1612	Q6W4X9	MUC6_HUMAN	P	1612	ENSP00000406861:L1612P	ENSP00000406861:L1612P	L	-	2	0	MUC6	1007966	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-1.263000	0.02850	-0.760000	0.04677	0.247000	0.18012	CTT		0.547	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		G	1017966	A	G	1017966	3	3	698	1	0	0	0	0	1	0	0	0	9982	72	3	3	2496	3	MUC6	11	1017966	Missense_Mutation	SNP	A	TCGA-KL-8329-01A-11D-2310-10		1017966	133988550	53	38753											
MUC5B	727897	broad.mit.edu	37	11	1264086	1264087	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr11:1264086_1264087insC	ENST00000529681.1	+	31	6034_6035	c.5976_5977insC	c.(5977-5979)accfs	p.T1993fs	MUC5B_ENST00000447027.1_Frame_Shift_Ins_p.T1996fs|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1993	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)		GCACCACCTGGACCCGCCTATC	0.634																																																0																																										SO:0001589	frameshift_variant	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		Exception_encountered	11.37:g.1264086_1264087insC	ENSP00000436812:p.Thr1993fs		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Frame_Shift_Ins	INS	ENST00000529681.1	37	CCDS44515.2																																																																																				0.634	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		C	1264087	-	C	1264086	7	5	698	1	0	1	1	0	0	0	0	0	9981	1183	41	0	6107	0	MUC5B	11	1264086	Frame_Shift_Ins	INS	-	TCGA-KL-8329-01A-11D-2310-10	246120	1264086	133742430	54	38754											
PIK3C2A	5286	broad.mit.edu	37	11	17121508	17121508	+	Silent	SNP	A	A	G			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr11:17121508A>G	ENST00000265970.7	-	25	4016	c.4017T>C	c.(4015-4017)ccT>ccC	p.P1339P	PIK3C2A_ENST00000531428.1_5'UTR|PIK3C2A_ENST00000540361.1_Silent_p.P959P	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1339	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				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						GTAACCCTGAAGGAATCATCT	0.358																																																0													80	81	81					11																	17121508		2200	4291	6491	SO:0001819	synonymous_variant	5286			Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"phosphoinositide-3-kinase, class 2, alpha polypeptide"			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.4017T>C	11.37:g.17121508A>G			B0LPH2|B4E2G4|Q14CQ9	Silent	SNP	ENST00000265970.7	37	CCDS7824.1																																																																																				0.358	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645		G	17121508	A	G	17121508	2	3	698	1	0	0	0	0	0	0	0	1	11911	59	3	3		3	PIK3C2A	11	17121508	Silent	SNP	A	TCGA-KL-8329-01A-11D-2310-10	15857422	17121508	117885008	55	38755											
OR5M8	219484	broad.mit.edu	37	11	56258238	56258239	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr11:56258238_56258239insC	ENST00000327216.2	-	1	632_633	c.608_609insG	c.(607-609)ggcfs	p.G203fs		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	203						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)					AAAGGTTCCAGCCAGCCACAAT	0.411																																																0																																										SO:0001589	frameshift_variant	219484			AB065744	CCDS31533.1	11q11	2012-08-09			ENSG00000181371	ENSG00000181371		"GPCR / Class A : Olfactory receptors"	14846	protein-coding gene	gene with protein product							Standard	NM_001005282		Approved		uc001nix.1	Q8NGP6	OTTHUMG00000166877	ENST00000327216.2:c.609dupG	11.37:g.56258240_56258240dupC	ENSP00000323354:p.Gly203fs		B2RNM5|Q6IEW3|Q96RB8	Frame_Shift_Ins	INS	ENST00000327216.2	37	CCDS31533.1																																																																																				0.411	OR5M8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391641.1	NM_001005282		C	56258239	-	C	56258238	7	5	698	1	0	1	1	0	0	0	0	0	11178	958	34	0	330	0	OR5M8	11	56258238	Frame_Shift_Ins	INS	-	TCGA-KL-8329-01A-11D-2310-10	39136730	56258238	78748278	56	38756											
P2RX3	5024	broad.mit.edu;mdanderson.org	37	11	57137381	57137381	+	Missense_Mutation	SNP	G	G	A	rs201360035		TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr11:57137381G>A	ENST00000263314.2	+	12	1139	c.1105G>A	c.(1105-1107)Gcg>Acg	p.A369T		NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3	369					behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of synaptic plasticity (GO:0048167)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to cold (GO:0009409)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)|transport (GO:0006810)|urinary bladder smooth muscle contraction (GO:0014832)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|purinergic nucleotide receptor activity (GO:0001614)			endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						GCTGAAAATCGCGGCTTTGAC	0.547													G|||	1	0.000199681	0.0	0.0	5008	,	,		20104	0.0		0.0	False		,,,				2504	0.001															0								G	THR/ALA	0,4402		0,0,2201	109	90	96		1105	-5.1	0	11		96	1,8591	1.2+/-3.3	0,1,4295	no	missense	P2RX3	NM_002559.3	58	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	benign	369/398	57137381	1,12993	2201	4296	6497	SO:0001583	missense	5024			Y07683	CCDS7953.1	11q12	2012-01-17			ENSG00000109991	ENSG00000109991		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	8534	protein-coding gene	gene with protein product		600843				9221902	Standard	NM_002559		Approved	P2X3	uc001nju.3	P56373	OTTHUMG00000167025	ENST00000263314.2:c.1105G>A	11.37:g.57137381G>A	ENSP00000263314:p.Ala369Thr		Q6DK37|Q9UQB6	Missense_Mutation	SNP	ENST00000263314.2	37	CCDS7953.1	.	.	.	.	.	.	.	.	.	.	G	0.496	-0.873163	0.02570	0.0	1.16E-4	ENSG00000109991	ENST00000439993;ENST00000263314	T	0.04275	3.66	5.2	-5.1	0.02911	.	0.835048	0.10764	N	0.636768	T	0.01940	0.0061	N	0.04959	-0.14	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48375	-0.9041	10	0.13853	T	0.58	-0.0127	8.327	0.32162	0.6906:0.1285:0.181:0.0	.	369	P56373	P2RX3_HUMAN	T	368;369	ENSP00000263314:A369T	ENSP00000263314:A369T	A	+	1	0	P2RX3	56893957	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.118000	0.15605	-1.177000	0.02744	-0.251000	0.11542	GCG		0.547	P2RX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392465.1	NM_002559		A	57137381	G	A	57137381	3	1	698	1	0	0	0	0	1	0	0	0	11343	1087	38	1	1151	1	P2RX3	11	57137381	Missense_Mutation	SNP	G	TCGA-KL-8329-01A-11D-2310-10	879143	57137381	77869135	57	38757											
POLA2	23649	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	11	65048558	65048558	+	Silent	SNP	G	G	A	rs372693281		TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr11:65048558G>A	ENST00000265465.3	+	8	1371	c.840G>A	c.(838-840)tcG>tcA	p.S280S	POLA2_ENST00000541089.1_Silent_p.S72S	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	280					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)	AACATTCCTCGGGTGCTCAAA	0.512																																																0								G		2,4400	4.2+/-10.8	0,2,2199	152	145	148		840	-10.2	0.2	11		148	0,8594		0,0,4297	no	coding-synonymous	POLA2	NM_002689.2		0,2,6496	AA,AG,GG		0.0,0.0454,0.0154		280/599	65048558	2,12994	2201	4297	6498	SO:0001819	synonymous_variant	23649			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.840G>A	11.37:g.65048558G>A			B4DNB4|Q9BPV3	Silent	SNP	ENST00000265465.3	37	CCDS8098.1																																																																																				0.512	POLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387223.1	NM_002689		A	65048558	G	A	65048558	2	1	698	1	0	0	0	0	0	0	0	1	12190	1103	39	1		1	POLA2	11	65048558	Silent	SNP	G	TCGA-KL-8329-01A-11D-2310-10	7911177	65048558	69957958	58	38758											
DHCR7	1717	broad.mit.edu	37	11	71152273	71152273	+	Splice_Site	SNP	C	C	T			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr11:71152273C>T	ENST00000355527.3	-	6	902	c.626G>A	c.(625-627)tGc>tAc	p.C209Y	DHCR7_ENST00000407721.2_Splice_Site_p.C209Y	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	209					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						AAGAACATACCAGTCTCTGGC	0.572									Smith-Lemli-Opitz syndrome																																							0													88	76	80					11																	71152273		2200	4294	6494	SO:0001630	splice_region_variant	1717	Familial Cancer Database	SLOS type I & II	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.626+1G>A	11.37:g.71152273C>T			B2R6Z2|O60492|O60717	Missense_Mutation	SNP	ENST00000355527.3	37	CCDS8200.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.794386|5.794386	0.96952|0.96952	.|.	.|.	ENSG00000172893|ENSG00000172893	ENST00000407721;ENST00000355527;ENST00000527316|ENST00000524694	D;D;D|.	0.97870|.	-4.58;-4.58;-4.58|.	4.14|4.14	4.14|4.14	0.48551|0.48551	.|.	0.096169|.	0.64402|.	D|.	0.000001|.	T|.	0.72179|.	0.3428|.	M|M	0.70275|0.70275	2.135|2.135	0.58432|0.58432	D|D	0.999999|0.999999	P|.	0.40660|.	0.726|.	B|.	0.40410|.	0.328|.	T|.	0.73142|.	-0.4076|.	9|.	.|.	.|.	.|.	-30.5458|-30.5458	14.271|14.271	0.66152|0.66152	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	209|.	Q9UBM7|.	DHCR7_HUMAN|.	Y|X	209;209;177|221	ENSP00000384739:C209Y;ENSP00000347717:C209Y;ENSP00000435047:C177Y|.	.|.	C|W	-|-	2|2	0|0	DHCR7|DHCR7	70829921|70829921	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.639000|0.639000	0.38242|0.38242	6.765000|6.765000	0.74965|0.74965	2.035000|2.035000	0.60131|0.60131	0.313000|0.313000	0.20887|0.20887	TGC|TGG		0.572	DHCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394243.1	NM_001360	Missense_Mutation	T	71152273	C	T	71152273	5	4	698	1	0	0	0	0	0	0	1	0	4479	608	21	2	817	2	DHCR7	11	71152273	Splice_Site	SNP	C	TCGA-KL-8329-01A-11D-2310-10	6103715	71152273	63854243	59	38759											
C12orf35	55196	mdanderson.org	37	12	32138691	32138691	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr12:32138691A>G	ENST00000312561.4	+	4	5216	c.4802A>G	c.(4801-4803)gAa>gGa	p.E1601G	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	1601																	ACCAAATTAGAAAGTTCACCC	0.368																																																0													67	73	71					12																	32138691		2202	4300	6502	SO:0001583	missense	55196			AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 35"	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.4802A>G	12.37:g.32138691A>G	ENSP00000310338:p.Glu1601Gly		B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	ENST00000312561.4	37	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	A	10.82	1.459493	0.26248	.	.	ENSG00000174718	ENST00000312561	T	0.15017	2.46	5.44	4.27	0.50696	.	0.695490	0.13932	N	0.352814	T	0.12987	0.0315	N	0.19112	0.55	0.22330	N	0.999195	P	0.39480	0.675	B	0.40940	0.344	T	0.15983	-1.0418	9	.	.	.	.	10.8893	0.46986	0.8422:0.1578:0.0:0.0	.	1601	Q9HCM1	CL035_HUMAN	G	1601	ENSP00000310338:E1601G	.	E	+	2	0	C12orf35	32029958	0.990000	0.36364	0.056000	0.19401	0.258000	0.26162	3.724000	0.54962	0.855000	0.35359	0.455000	0.32223	GAA		0.368	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		G	32138691	A	G	32138691	3	3	698	1	0	0	0	0	1	0	0	0	1684	246	9	3	4804	3	C12orf35	12	32138691	Missense_Mutation	SNP	A	TCGA-KL-8329-01A-11D-2310-10		32138691	101713204	60	38760											
SILV	6490	broad.mit.edu	37	12	56348043	56348043	+	Silent	SNP	A	A	G			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr12:56348043A>G	ENST00000548747.1	-	11	2603	c.1941T>C	c.(1939-1941)tgT>tgC	p.C647C	PMEL_ENST00000550447.1_Silent_p.C276C|PMEL_ENST00000360714.4_Silent_p.C654C|PMEL_ENST00000536427.1_Silent_p.C612C|PMEL_ENST00000449260.2_Silent_p.C654C|PMEL_ENST00000550464.1_Silent_p.C561C|PMEL_ENST00000539511.1_Silent_p.C561C|PMEL_ENST00000552882.1_Silent_p.C647C|PMEL_ENST00000548493.1_Silent_p.C647C			P40967	PMEL_HUMAN	premelanosome protein	647					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						CACCAATGGGACAAGAGCAGA	0.512																																																0													126	111	116					12																	56348043		2203	4300	6503	SO:0001819	synonymous_variant	6490			AK092881	CCDS8897.1, CCDS55833.1, CCDS55834.1	12q13-q14	2010-12-17	2010-12-17	2010-12-17	ENSG00000185664	ENSG00000185664			10880	protein-coding gene	gene with protein product		155550	"silver (mouse homolog) like", "silver homolog (mouse)"	SIL, SILV		8739560	Standard	NM_001200053		Approved	D12S53E, SI, Pmel17, gp100	uc001siq.3	P40967		ENST00000548747.1:c.1941T>C	12.37:g.56348043A>G			B3KS57|B7Z6D7|Q12763|Q14448|Q14817|Q16565	Silent	SNP	ENST00000548747.1	37	CCDS8897.1																																																																																				0.512	PMEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409626.1	NM_006928		G	56348043	A	G	56348043	2	3	698	1	0	0	0	0	0	0	0	1	14328	273	10	3		3	SILV	12	56348043	Silent	SNP	A	TCGA-KL-8329-01A-11D-2310-10	24209352	56348043	77503852	61	38761											
B4GALNT1	2583	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	58022926	58022926	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr12:58022926C>T	ENST00000341156.4	-	7	1300	c.716G>A	c.(715-717)cGg>cAg	p.R239Q	B4GALNT1_ENST00000550943.1_5'Flank|B4GALNT1_ENST00000418555.2_Missense_Mutation_p.R184Q|B4GALNT1_ENST00000449184.3_Intron	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	239					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)			GGTGGAGAACCGGACTGGGAA	0.532																																																0													62	57	58					12																	58022926		2203	4300	6503	SO:0001583	missense	2583			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.716G>A	12.37:g.58022926C>T	ENSP00000341562:p.Arg239Gln		B4DE26|Q8N636	Missense_Mutation	SNP	ENST00000341156.4	37	CCDS8950.1	.	.	.	.	.	.	.	.	.	.	.	11.97	1.797113	0.31777	.	.	ENSG00000135454	ENST00000341156;ENST00000418555	T;T	0.17528	2.27;2.29	5.34	5.34	0.76211	.	0.210000	0.41097	D	0.000952	T	0.07007	0.0178	N	0.10916	0.065	0.80722	D	1	B;B	0.30439	0.279;0.085	B;B	0.17979	0.02;0.007	T	0.25257	-1.0137	10	0.07482	T	0.82	-3.0107	10.1216	0.42623	0.0:0.9087:0.0:0.0913	.	184;239	B4DE26;Q00973	.;B4GN1_HUMAN	Q	239;184	ENSP00000341562:R239Q;ENSP00000401601:R184Q	ENSP00000341562:R239Q	R	-	2	0	B4GALNT1	56309193	0.945000	0.32115	1.000000	0.80357	0.992000	0.81027	1.769000	0.38522	2.522000	0.85027	0.655000	0.94253	CGG		0.532	B4GALNT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407853.1	NM_001478		T	58022926	C	T	58022926	3	4	698	1	0	0	0	0	1	0	0	0	1266	652	23	1	905	1	B4GALNT1	12	58022926	Missense_Mutation	SNP	C	TCGA-KL-8329-01A-11D-2310-10	1674883	58022926	75828969	62	38762											
KIAA1033	23325	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	12	105504982	105504982	+	Silent	SNP	C	C	T	rs368178226		TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr12:105504982C>T	ENST00000332180.5	+	2	228	c.141C>T	c.(139-141)gaC>gaT	p.D47D		NM_015275.1	NP_056090.1			KIAA1033											breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						GAATTGAGGACGCTCTGGATG	0.303																																																0								C		1,3617		0,1,1808	77	72	74		141	-10.7	0.4	12		74	0,8136		0,0,4068	no	coding-synonymous	KIAA1033	NM_015275.1		0,1,5876	TT,TC,CC		0.0,0.0276,0.0085		47/1174	105504982	1,11753	1809	4068	5877	SO:0001819	synonymous_variant	23325			AB028956	CCDS41826.1, CCDS73514.1	12q24.11	2014-05-09				ENSG00000136051			29174	protein-coding gene	gene with protein product		615748				20376207, 20498093, 21498477	Standard	XM_005268742		Approved	SWIP	uc001tld.3	Q2M389		ENST00000332180.5:c.141C>T	12.37:g.105504982C>T				Silent	SNP	ENST00000332180.5	37	CCDS41826.1																																																																																				0.303	KIAA1033-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406138.4	NM_015275		T	105504982	C	T	105504982	2	4	698	1	0	0	0	0	0	0	0	1	8208	535	19	1		1	KIAA1033	12	105504982	Silent	SNP	C	TCGA-KL-8329-01A-11D-2310-10	47482056	105504982	28346913	63	38763											
TCTN2	79867	broad.mit.edu	37	12	124180975	124180976	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr12:124180975_124180976insA	ENST00000303372.5	+	12	1454_1455	c.1326_1327insA	c.(1327-1329)aagfs	p.K443fs	TCTN2_ENST00000426174.2_Frame_Shift_Ins_p.K442fs	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	443					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		ACCAACTTGGCAAGCCTGTCCG	0.431																																																0																																										SO:0001589	frameshift_variant	79867			AK056924	CCDS9253.1, CCDS45007.1	12q24.31	2011-04-12	2007-08-20	2007-08-20	ENSG00000168778	ENSG00000168778		"Tectonic proteins"	25774	protein-coding gene	gene with protein product	"Meckel syndrome, type 8"	613846	"chromosome 12 open reading frame 38"	C12orf38		21462283	Standard	NM_024809		Approved	FLJ12975, TECT2, MKS8	uc001ufp.3	Q96GX1	OTTHUMG00000168700	ENST00000303372.5:c.1328dupA	12.37:g.124180977_124180977dupA	ENSP00000304941:p.Lys443fs		A8K7Y8|B3KPW5|Q9H966	Frame_Shift_Ins	INS	ENST00000303372.5	37	CCDS9253.1																																																																																				0.431	TCTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400652.1	NM_024809		A	124180976	-	A	124180975	7	5	698	1	0	1	1	0	0	0	0	0	15728	697	25	0	1372	0	TCTN2	12	124180975	Frame_Shift_Ins	INS	-	TCGA-KL-8329-01A-11D-2310-10	18675993	124180975	9670920	64	38764											
POTEG	404785	mdanderson.org	37	14	19553760	19553760	+	Missense_Mutation	SNP	G	G	A	rs375902660		TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr14:19553760G>A	ENST00000409832.3	+	1	396	c.344G>A	c.(343-345)aGc>aAc	p.S115N		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	115										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AGCGGCAAGAGCAAAGTGGGC	0.597																																																0													391	424	413					14																	19553760		2201	4298	6499	SO:0001583	missense	404785				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.344G>A	14.37:g.19553760G>A	ENSP00000386971:p.Ser115Asn		A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	ENST00000409832.3	37	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	g	0.049	-1.256079	0.01457	.	.	ENSG00000222036	ENST00000409832	T	0.27256	1.68	.	.	.	.	.	.	.	.	T	0.12263	0.0298	L	0.37630	1.12	0.09310	N	1	B	0.21147	0.052	B	0.21708	0.036	T	0.41805	-0.9488	7	0.02654	T	1	.	.	.	.	.	115	Q6S5H5	POTEG_HUMAN	N	115	ENSP00000386971:S115N	ENSP00000386971:S115N	S	+	2	0	POTEG	18623760	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-2.058000	0.01394	-1.485000	0.01854	-1.526000	0.00926	AGC		0.597	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		A	19553760	G	A	19553760	3	1	698	1	0	0	0	0	1	0	0	0	12268	971	34	2	346	2	POTEG	14	19553760	Missense_Mutation	SNP	G	TCGA-KL-8329-01A-11D-2310-10		19553760	87795780	65	38765											
KIAA1409	57578	broad.mit.edu	37	14	94156610	94156610	+	Silent	SNP	T	T	C	rs182301730	byFrequency	TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr14:94156610T>C	ENST00000393151.2	+	46	7350	c.7350T>C	c.(7348-7350)caT>caC	p.H2450H	UNC79_ENST00000553484.1_Silent_p.H2472H|UNC79_ENST00000256339.4_Silent_p.H2273H|UNC79_ENST00000555664.1_Silent_p.H2411H			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2450					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						TTGCAGACCATCTTATTGTTA	0.488													T|||	2	0.000399361	0.0	0.0	5008	,	,		20460	0.002		0.0	False		,,,				2504	0.0															0													142	122	129					14																	94156610		2203	4300	6503	SO:0001819	synonymous_variant	57578			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"KIAA1409"	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.7350T>C	14.37:g.94156610T>C			B5MDL6|Q6ZUT7	Silent	SNP	ENST00000393151.2	37																																																																																					0.488	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		C	94156610	T	C	94156610	2	2	698	1	0	0	0	0	0	0	0	1	8232	1432	50	3		3	KIAA1409	14	94156610	Silent	SNP	T	TCGA-KL-8329-01A-11D-2310-10	74602850	94156610	13192930	66	38766											
AHNAK2	113146	mdanderson.org	37	14	105416872	105416872	+	Missense_Mutation	SNP	T	T	C	rs148787429	byFrequency	TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr14:105416872T>C	ENST00000333244.5	-	7	5035	c.4916A>G	c.(4915-4917)cAg>cGg	p.Q1639R	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1639						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)			CCCCTCCAGCTGCGCACCATC	0.592													.|||	704	0.140575	0.1566	0.0778	5008	,	,		17132	0.2401		0.0358	False		,,,				2504	0.1687															0								C	ARG/GLN	378,3456		58,262,1597	148	168	162		4916	-1.8	0	14	dbSNP_134	162	270,7886		40,190,3848	no	missense	AHNAK2	NM_138420.2	43	98,452,5445	CC,CT,TT		3.3104,9.8592,5.4045	benign	1639/5796	105416872	648,11342	1917	4078	5995	SO:0001583	missense	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.4916A>G	14.37:g.105416872T>C	ENSP00000353114:p.Gln1639Arg		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	214	0.09798534798534798	54	0.10975609756097561	36	0.09944751381215469	106	0.1853146853146853	18	0.023746701846965697	N	0.418	-0.909540	0.02434	0.098592	0.033104	ENSG00000185567	ENST00000333244	T	0.00659	5.94	3.11	-1.82	0.07857	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.06786	0.001	B	0.08055	0.003	T	0.37619	-0.9698	8	0.24483	T	0.36	.	5.9125	0.19037	0.0:0.2565:0.1368:0.6067	.	1639	Q8IVF2	AHNK2_HUMAN	R	1639	ENSP00000353114:Q1639R	ENSP00000353114:Q1639R	Q	-	2	0	AHNAK2	104487917	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.109000	0.10840	-2.238000	0.00712	-3.443000	0.00036	CAG		0.592	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		C	105416872	T	C	105416872	3	2	698	1	0	0	0	0	1	0	0	0	415	1580	55	3	12475	3	AHNAK2	14	105416872	Missense_Mutation	SNP	T	TCGA-KL-8329-01A-11D-2310-10	11260262	105416872	1932668	67	38767											
MTA1	9112	ucsc.edu	37	14	105931063	105931063	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr14:105931063A>G	ENST00000331320.7	+	15	1611	c.1397A>G	c.(1396-1398)aAg>aGg	p.K466R	MTA1_ENST00000435036.2_Missense_Mutation_p.K2R|MTA1_ENST00000406191.1_Missense_Mutation_p.K466R|MTA1_ENST00000405646.1_Missense_Mutation_p.K449R	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	466					circadian regulation of gene expression (GO:0032922)|double-strand break repair (GO:0006302)|entrainment of circadian clock by photoperiod (GO:0043153)|locomotor rhythm (GO:0045475)|positive regulation of protein autoubiquitination (GO:1902499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression, epigenetic (GO:0040029)|regulation of inflammatory response (GO:0050727)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|secretory granule organization (GO:0033363)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|microtubule (GO:0005874)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		TTTGCCATGAAGACCAGGCAG	0.706																																																0													32	26	28					14																	105931063		2198	4293	6491	SO:0001583	missense	9112			U35113	CCDS32169.1, CCDS55954.1	14q32.33	2013-01-25			ENSG00000182979	ENSG00000182979		"GATA zinc finger domain containing"	7410	protein-coding gene	gene with protein product		603526				8083195, 7607577	Standard	NM_004689		Approved		uc001yqx.3	Q13330	OTTHUMG00000150362	ENST00000331320.7:c.1397A>G	14.37:g.105931063A>G	ENSP00000333633:p.Lys466Arg		A5PLK4|Q86SW2|Q8NFI8|Q96GI8	Missense_Mutation	SNP	ENST00000331320.7	37	CCDS32169.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.532901	0.85812	.	.	ENSG00000182979	ENST00000414153;ENST00000331320;ENST00000406191;ENST00000405646;ENST00000434050;ENST00000435036	T;T;T;T;T	0.75050	0.89;0.83;0.88;0.86;-0.9	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	D	0.86151	0.5864	M	0.82517	2.595	0.58432	D	0.999999	D;P	0.76494	0.999;0.949	D;P	0.85130	0.997;0.725	D	0.88270	0.2929	10	0.87932	D	0	-34.481	13.0096	0.58724	1.0:0.0:0.0:0.0	.	258;466	Q59FW1;Q13330	.;MTA1_HUMAN	R	375;466;466;449;258;2	ENSP00000333633:K466R;ENSP00000385702:K466R;ENSP00000384180:K449R;ENSP00000394106:K258R;ENSP00000389425:K2R	ENSP00000333633:K466R	K	+	2	0	MTA1	105002108	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	7.273000	0.78527	1.827000	0.53221	0.379000	0.24179	AAG		0.706	MTA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317849.15			G	105931063	A	G	105931063	3	3	698	1	0	0	0	0	1	0	0	0	9910	72	3	3	1455	3	MTA1	14	105931063	Missense_Mutation	SNP	A	TCGA-KL-8329-01A-11D-2310-10	514191	105931063	1418477	68	38768											
MTMR10	54893	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	15	31234179	31234179	+	Missense_Mutation	SNP	A	A	T	rs377638176		TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr15:31234179A>T	ENST00000435680.1	-	16	1925	c.1828T>A	c.(1828-1830)Tta>Ata	p.L610I	MTMR10_ENST00000314404.8_Intron|FAN1_ENST00000362065.4_3'UTR|MTMR10_ENST00000425768.1_3'UTR	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	610	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.						phosphatase activity (GO:0016791)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		TTTGGTTTTAATATCAATGAA	0.438																																																0													175	180	178					15																	31234179		1939	4133	6072	SO:0001583	missense	54893			AK000320	CCDS45204.1	15q13.3	2011-06-09				ENSG00000166912		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	25999	protein-coding gene	gene with protein product						12495846	Standard	NM_017762		Approved	FLJ20313	uc001zfh.1	Q9NXD2		ENST00000435680.1:c.1828T>A	15.37:g.31234179A>T	ENSP00000402537:p.Leu610Ile		Q6P4Q6	Missense_Mutation	SNP	ENST00000435680.1	37	CCDS45204.1	.	.	.	.	.	.	.	.	.	.	A	15.43	2.831740	0.50845	.	.	ENSG00000166912	ENST00000435680	T	0.50813	0.73	5.67	-11.3	0.00108	Myotubularin phosphatase domain (1);	.	.	.	.	T	0.52597	0.1744	M	0.67953	2.075	0.22719	N	0.998815	D	0.53312	0.959	P	0.53224	0.721	T	0.67507	-0.5653	9	0.33141	T	0.24	.	17.8796	0.88837	0.1273:0.1655:0.7071:0.0	.	610	Q9NXD2	MTMRA_HUMAN	I	610	ENSP00000402537:L610I	ENSP00000402537:L610I	L	-	1	2	MTMR10	29021471	0.000000	0.05858	0.000000	0.03702	0.806000	0.45545	-0.907000	0.04067	-2.442000	0.00549	0.533000	0.62120	TTA		0.438	MTMR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430747.1	NM_017762		T	31234179	A	T	31234179	3	4	698	1	0	0	0	0	1	0	0	0	9941	98	4	5	509	5	MTMR10	15	31234179	Missense_Mutation	SNP	A	TCGA-KL-8329-01A-11D-2310-10		31234179	71297213	69	38769											
OTUD7A	161725	mdanderson.org;bcgsc.ca	37	15	31779425	31779425	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr15:31779425G>A	ENST00000307050.4	-	10	1414	c.1322C>T	c.(1321-1323)aCg>aTg	p.T441M	OTUD7A_ENST00000382902.1_Missense_Mutation_p.T448M	NM_130901.1	NP_570971.1	Q8TE49	OTU7A_HUMAN	OTU deubiquitinase 7A	441	Catalytic. {ECO:0000250}.				protein K11-linked deubiquitination (GO:0035871)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		CCGGATCCACGTCACGTTCAT	0.582																																																0													123	96	105					15																	31779425		2202	4300	6502	SO:0001583	missense	161725			AJ430383	CCDS10026.1	15q13.1	2014-02-24	2014-02-24	2006-07-07	ENSG00000169918	ENSG00000169918		"OTU domain containing"	20718	protein-coding gene	gene with protein product		612024	"chromosome 15 open reading frame 16", "OTU domain containing 7", "OTU domain containing 7A"	C15orf16, OTUD7		23827681	Standard	NM_130901		Approved	CEZANNE2	uc001zfq.3	Q8TE49	OTTHUMG00000129275	ENST00000307050.4:c.1322C>T	15.37:g.31779425G>A	ENSP00000305926:p.Thr441Met		Q8IWK5	Missense_Mutation	SNP	ENST00000307050.4	37	CCDS10026.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.429639	0.83776	.	.	ENSG00000169918	ENST00000307050;ENST00000382902	T;T	0.32988	1.43;1.43	4.59	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.51244	0.1663	L	0.51422	1.61	0.50467	D	0.999874	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.54200	-0.8329	10	0.62326	D	0.03	-25.3487	17.7878	0.88543	0.0:0.0:1.0:0.0	.	448;441	Q8TE49-2;Q8TE49	.;OTU7A_HUMAN	M	441;448	ENSP00000305926:T441M;ENSP00000372358:T448M	ENSP00000305926:T441M	T	-	2	0	OTUD7A	29566717	1.000000	0.71417	0.950000	0.38849	0.888000	0.51559	8.825000	0.92029	2.234000	0.73211	0.561000	0.74099	ACG		0.582	OTUD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251393.2	NM_130901		A	31779425	G	A	31779425	3	1	698	1	0	0	0	0	1	0	0	0	11320	1145	40	1	1466	1	OTUD7A	15	31779425	Missense_Mutation	SNP	G	TCGA-KL-8329-01A-11D-2310-10	545246	31779425	70751967	70	38770											
IQGAP1	8826	broad.mit.edu;hgsc.bcm.edu	37	15	91030265	91030277	+	Frame_Shift_Del	DEL	GTTCGACGTGCCT	GTTCGACGTGCCT	-	rs368968167|rs528193427|rs181919733|rs201241538		TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	GTTCGACGTGCCT	GTTCGACGTGCCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr15:91030265_91030277delGTTCGACGTGCCT	ENST00000268182.5	+	32	4228_4240	c.4104_4116delGTTCGACGTGCCT	c.(4102-4116)aagttcgacgtgcctfs	p.KFDVP1368fs	IQGAP1_ENST00000560738.1_Frame_Shift_Del_p.KFDVP796fs	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1368	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)	p.D1370D(1)		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)			TGACCAACAAGTTCGACGTGCCTGGAGATGAGA	0.451																																																1	Substitution - coding silent(1)	endometrium(1)																																								SO:0001589	frameshift_variant	8826			D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"RasGAP-like with IQ motifs"	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.4104_4116delGTTCGACGTGCCT	15.37:g.91030265_91030277delGTTCGACGTGCCT	ENSP00000268182:p.Lys1368fs		A7MBM3	Frame_Shift_Del	DEL	ENST00000268182.5	37	CCDS10362.1																																																																																				0.451	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870		-	91030277	GTTCGACGTGCCT	-	91030265	7	5	698	1	0	1	0	1	0	0	0	0	7816	1020	36	0	4230	0	IQGAP1	15	91030265	Frame_Shift_Del	DEL	GTTCGACGTGCCT	TCGA-KL-8329-01A-11D-2310-10	59250840	91030265	11501127	71	38771	304	2									
IQGAP1	8826	bcgsc.ca	37	15	91030266	91030278	+	Frame_Shift_Del	DEL	GTTCGACGTGCCT	GTTCGACGTGCCT	-	rs368968167|rs528193427|rs181919733|rs201241538		TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	GTTCGACGTGCCT	GTTCGACGTGCCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr15:91030266_91030278delGTTCGACGTGCCT	ENST00000268182.5	+	32	4229_4241	c.4105_4117delGTTCGACGTGCCT	c.(4105-4119)gttcgacgtgcctgafs	p.VRRA*1369fs	IQGAP1_ENST00000560738.1_Frame_Shift_Del_p.VRRA*797fs	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1369	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)	p.D1370D(1)		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)			GACCAACAAGTTCGACGTGCCTGGAGATGAGAA	0.451																																																1	Substitution - coding silent(1)	endometrium(1)																																								SO:0001589	frameshift_variant	8826			D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"RasGAP-like with IQ motifs"	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.4105_4117delGTTCGACGTGCCT	15.37:g.91030266_91030278delGTTCGACGTGCCT	ENSP00000268182:p.Val1369fs		A7MBM3	Frame_Shift_Del	DEL	ENST00000268182.5	37	CCDS10362.1																																																																																				0.451	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870		-	91030278	GTTCGACGTGCCT	-	91030266	7	5	698	1	0	1	0	1	0	0	0	0	7816	1725	60	0	4231	0	IQGAP1	15	91030266	Frame_Shift_Del	DEL	GTTCGACGTGCCT	TCGA-KL-8329-01A-11D-2310-10	1	91030266	11501126	72	38772	304	2									
TPSD1	23430	mdanderson.org	37	16	1306355	1306355	+	Missense_Mutation	SNP	T	T	C	rs1800984	byFrequency	TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr16:1306355T>C	ENST00000211076.3	+	1	222	c.74T>C	c.(73-75)gTg>gCg	p.V25A	TPSD1_ENST00000397534.2_Missense_Mutation_p.V18A|RP11-616M22.5_ENST00000566997.1_RNA	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	25			V -> A (in dbSNP:rs1800984).	V -> G (in Ref. 1; AAD17861). {ECO:0000305}.		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)				CCGGCCTACGTGGCCCCTGGT	0.721													-|||	3599	0.71865	0.7564	0.6542	5008	,	,		14753	0.9484		0.5577	False		,,,				2504	0.6421															0								T	ALA/VAL	3121,1271		1094,933,169	29	37	34		74	-3.1	0	16	dbSNP_89	34	4690,3906		1125,2440,733	no	missense	TPSD1	NM_012217.2	64	2219,3373,902	CC,CT,TT		45.4397,28.939,39.8599	benign	25/243	1306355	7811,5177	2196	4298	6494	SO:0001583	missense	23430			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.74T>C	16.37:g.1306355T>C	ENSP00000211076:p.Val25Ala		O95824|Q8TDI6|Q96L36|Q96RZ5|Q9H2Y6|Q9UQI8	Missense_Mutation	SNP	ENST00000211076.3	37	CCDS10432.1	1558	0.7133699633699634	388	0.7886178861788617	208	0.574585635359116	556	0.972027972027972	406	0.5356200527704486	-	0.855	-0.737258	0.03111	0.71061	0.545603	ENSG00000095917	ENST00000397534;ENST00000211076	T;T	0.81247	-1.47;-1.47	2.55	-3.13	0.05266	.	0.813971	0.10635	N	0.651704	T	0.00012	0.0000	N	0.01874	-0.695	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.35076	-0.9803	9	0.02654	T	1	.	3.4489	0.07491	0.0:0.375:0.2043:0.4206	rs1800984;rs3865206;rs4083416	25	Q9BZJ3	TRYD_HUMAN	A	18;25	ENSP00000380668:V18A;ENSP00000211076:V25A	ENSP00000211076:V25A	V	+	2	0	TPSD1	1246356	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.814000	0.01723	-0.826000	0.04284	-1.137000	0.01932	GTG		0.721	TPSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250320.2			C	1306355	T	C	1306355	3	2	698	1	0	0	0	0	1	0	0	0	16430	1696	59	3	76	3	TPSD1	16	1306355	Missense_Mutation	SNP	T	TCGA-KL-8329-01A-11D-2310-10		1306355	89048398	73	38773											
ADCY9	115	broad.mit.edu	37	16	4016581	4016581	+	Missense_Mutation	SNP	T	T	A			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr16:4016581T>A	ENST00000294016.3	-	11	3795	c.3257A>T	c.(3256-3258)aAc>aTc	p.N1086I		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	1086	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						GATGAGCTCGTTGAGGACCCG	0.582																																																0													124	120	121					16																	4016581		2197	4300	6497	SO:0001583	missense	115			AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"Adenylate cyclases"	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.3257A>T	16.37:g.4016581T>A	ENSP00000294016:p.Asn1086Ile		A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	ENST00000294016.3	37	CCDS32382.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.389093	0.82902	.	.	ENSG00000162104	ENST00000294016	T	0.40225	1.04	5.52	5.52	0.82312	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	T	0.75102	0.3804	H	0.95679	3.705	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	D	0.83486	0.0067	10	0.87932	D	0	.	15.9238	0.79597	0.0:0.0:0.0:1.0	.	1086	O60503	ADCY9_HUMAN	I	1086	ENSP00000294016:N1086I	ENSP00000294016:N1086I	N	-	2	0	ADCY9	3956582	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.997000	0.88414	2.221000	0.72209	0.533000	0.62120	AAC		0.582	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			A	4016581	T	A	4016581	3	1	698	1	0	0	0	0	1	0	0	0	301	1725	60	5	808	5	ADCY9	16	4016581	Missense_Mutation	SNP	T	TCGA-KL-8329-01A-11D-2310-10	2710226	4016581	86338172	74	38774											
CSNK2A2	1459	broad.mit.edu	37	16	58199559	58199559	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr16:58199559A>G	ENST00000262506.3	-	10	1064	c.881T>C	c.(880-882)gTc>gCc	p.V294A	CSNK2A2_ENST00000566813.1_5'UTR	NM_001896.2	NP_001887.1	P19784	CSK22_HUMAN	casein kinase 2, alpha prime polypeptide	294	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|mitotic cell cycle (GO:0000278)|mitotic spindle checkpoint (GO:0071174)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)	1						CTCAGGGCTGACAAGGTGTCT	0.453																																					Melanoma(54;119 1219 18349 35700 39738)											0													136	120	125					16																	58199559		2198	4300	6498	SO:0001583	missense	1459			M55268	CCDS10794.1	16q21	2013-01-17			ENSG00000070770	ENSG00000070770			2459	protein-coding gene	gene with protein product		115442				2174700, 1766873	Standard	NM_001896		Approved	CSNK2A1	uc002enc.3	P19784	OTTHUMG00000133488	ENST00000262506.3:c.881T>C	16.37:g.58199559A>G	ENSP00000262506:p.Val294Ala			Missense_Mutation	SNP	ENST00000262506.3	37	CCDS10794.1	.	.	.	.	.	.	.	.	.	.	A	16.41	3.115752	0.56505	.	.	ENSG00000070770	ENST00000262506	T	0.06849	3.25	5.75	5.75	0.90469	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	0.15176	0.0366	N	0.25825	0.765	0.80722	D	1	B	0.21452	0.056	P	0.48141	0.568	T	0.41233	-0.9520	10	0.17832	T	0.49	-14.6529	15.5278	0.75925	1.0:0.0:0.0:0.0	.	294	P19784	CSK22_HUMAN	A	294	ENSP00000262506:V294A	ENSP00000262506:V294A	V	-	2	0	CSNK2A2	56757060	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.287000	0.95975	2.320000	0.78422	0.528000	0.53228	GTC		0.453	CSNK2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257386.2	NM_001896		G	58199559	A	G	58199559	3	3	698	1	0	0	0	0	1	0	0	0	3960	275	10	3	179	3	CSNK2A2	16	58199559	Missense_Mutation	SNP	A	TCGA-KL-8329-01A-11D-2310-10	54182978	58199559	32155194	75	38775											
MNT	4335	ucsc.edu	37	17	2290424	2290424	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr17:2290424T>C	ENST00000174618.4	-	6	1925	c.1520A>G	c.(1519-1521)cAg>cGg	p.Q507R	MNT_ENST00000575374.1_5'Flank|RP1-59D14.1_ENST00000571775.1_RNA	NM_020310.2	NP_064706.1	Q99583	MNT_HUMAN	MAX network transcriptional repressor	507					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)		CAAGGGCAGCTGGGAGCCCAG	0.701																																																0													28	28	28					17																	2290424		2198	4292	6490	SO:0001583	missense	4335			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.1520A>G	17.37:g.2290424T>C	ENSP00000174618:p.Gln507Arg		A8K6D1|D3DTI7|Q1ED38	Missense_Mutation	SNP	ENST00000174618.4	37	CCDS11018.1	.	.	.	.	.	.	.	.	.	.	T	14.53	2.561493	0.45590	.	.	ENSG00000070444	ENST00000174618;ENST00000404961	D	0.82984	-1.67	4.91	4.91	0.64330	.	0.111581	0.39909	N	0.001235	T	0.72211	0.3432	N	0.14661	0.345	0.45035	D	0.99805	P	0.42827	0.791	B	0.41236	0.351	T	0.76135	-0.3070	10	0.51188	T	0.08	-13.646	13.709	0.62656	0.0:0.0:0.0:1.0	.	507	Q99583	MNT_HUMAN	R	507	ENSP00000174618:Q507R	ENSP00000174618:Q507R	Q	-	2	0	MNT	2237174	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.652000	0.83633	1.844000	0.53588	0.482000	0.46254	CAG		0.701	MNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207158.1	NM_020310		C	2290424	T	C	2290424	3	2	698	1	0	0	0	0	1	0	0	0	9680	1580	55	3	232	3	MNT	17	2290424	Missense_Mutation	SNP	T	TCGA-KL-8329-01A-11D-2310-10		2290424	78904786	76	38776											
TP53	7157	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	17	7577594	7577594	+	Nonsense_Mutation	SNP	A	A	T			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr17:7577594A>T	ENST00000269305.4	-	7	876	c.687T>A	c.(685-687)tgT>tgA	p.C229*	TP53_ENST00000445888.2_Nonsense_Mutation_p.C229*|TP53_ENST00000359597.4_Nonsense_Mutation_p.C229*|TP53_ENST00000413465.2_Nonsense_Mutation_p.C229*|TP53_ENST00000455263.2_Nonsense_Mutation_p.C229*|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000420246.2_Nonsense_Mutation_p.C229*	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	229	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> G (in a sporadic cancer; somatic mutation).|C -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> 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.C229fs*10(9)|p.0?(8)|p.?(5)|p.C229*(3)|p.C229_H233delCTTIH(2)|p.T230fs*9(1)|p.C229fs*1(1)|p.C229_T230insX(1)|p.C229C(1)|p.V225fs*23(1)|p.D228fs*12(1)|p.C229_I232del(1)|p.S227_I232delSDCTTI(1)|p.C136fs*10(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(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)	GGATGGTGGTACAGTCAGAGC	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)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	36	Deletion - Frameshift(13)|Whole gene deletion(8)|Unknown(5)|Deletion - In frame(4)|Substitution - Nonsense(3)|Insertion - In frame(1)|Complex - frameshift(1)|Substitution - coding silent(1)	ovary(7)|biliary_tract(6)|breast(4)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|oesophagus(3)|central_nervous_system(2)|upper_aerodigestive_tract(1)|stomach(1)|thymus(1)|large_intestine(1)|urinary_tract(1)|lung(1)|liver(1)	GRCh37	CD076915	TP53	D							104	85	91					17																	7577594		2203	4300	6503	SO:0001587	stop_gained	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.687T>A	17.37:g.7577594A>T	ENSP00000269305:p.Cys229*		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	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.745334	0.89663	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	.	.	.	4.48	-0.453	0.12201	.	0.350628	0.33346	N	0.005002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-0.3974	8.2175	0.31521	0.612:0.0:0.388:0.0	.	.	.	.	X	229;229;229;229;229;229;218;136;97;136	.	ENSP00000269305:C229X	C	-	3	2	TP53	7518319	0.331000	0.24713	0.231000	0.23993	0.944000	0.59088	0.148000	0.16224	-0.212000	0.10109	0.379000	0.24179	TGT		0.527	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7577594	A	T	7577594	4	4	698	1	0	0	0	0	0	1	0	0	16386	389	14	5	603	5	TP53	17	7577594	Nonsense_Mutation	SNP	A	TCGA-KL-8329-01A-11D-2310-10	5287170	7577594	73617616	77	38777			2	69		3	3	1719	N	T_C_A	1.564135e-05
TP53	7157	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	17	7578235	7578235	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr17:7578235T>C	ENST00000269305.4	-	6	803	c.614A>G	c.(613-615)tAt>tGt	p.Y205C	TP53_ENST00000445888.2_Missense_Mutation_p.Y205C|TP53_ENST00000359597.4_Missense_Mutation_p.Y205C|TP53_ENST00000413465.2_Missense_Mutation_p.Y205C|TP53_ENST00000455263.2_Missense_Mutation_p.Y205C|TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.Y205C	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)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	117	Substitution - Missense(102)|Whole gene deletion(8)|Unknown(5)|Deletion - In frame(1)|Deletion - Frameshift(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)											136	121	126					17																	7578235		2203	4300	6503	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.614A>G	17.37:g.7578235T>C	ENSP00000269305:p.Tyr205Cys		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	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	17.85	3.490024	0.64074	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	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	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	0.99840	0.9927	M	0.88906	2.99	0.58432	D	0.999999	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;0.998;0.995;0.997;0.999;0.997;0.996	D	0.97320	0.9943	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;.;.	C	205;205;205;205;205;205;194;112;73;112;73	ENSP00000410739:Y205C;ENSP00000352610:Y205C;ENSP00000269305:Y205C;ENSP00000398846:Y205C;ENSP00000391127:Y205C;ENSP00000391478:Y205C;ENSP00000425104:Y73C;ENSP00000423862:Y112C	ENSP00000269305:Y205C	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		C	7578235	T	C	7578235	3	2	698	1	0	0	0	0	1	0	0	0	16386	1406	49	3	680	3	TP53	17	7578235	Missense_Mutation	SNP	T	TCGA-KL-8329-01A-11D-2310-10	641	7578235	73616975	78	38778			2	69		3	3	1719	N	T_C_A	1.564135e-05
TP53	7157	hgsc.bcm.edu;mdanderson.org	37	17	7579312	7579312	+	Splice_Site	SNP	C	C	T	rs55863639		TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr17:7579312C>T	ENST00000269305.4	-	4	564	c.375G>A	c.(373-375)acG>acA	p.T125T	TP53_ENST00000445888.2_Splice_Site_p.T125T|TP53_ENST00000359597.4_Splice_Site_p.T125T|TP53_ENST00000413465.2_Splice_Site_p.T125T|TP53_ENST00000455263.2_Splice_Site_p.T125T|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_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)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	66	Substitution - coding silent(51)|Whole gene deletion(8)|Deletion - Frameshift(3)|Unknown(2)|Deletion - In frame(1)|Insertion - In frame(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)	GRCh37	CS004351|CS011573|CS971913	TP53	S	rs55863639						66	61	63					17																	7579312		2203	4300	6503	SO:0001630	splice_region_variant	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.375+1G>A	17.37:g.7579312C>T			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	Silent	SNP	ENST00000269305.4	37	CCDS11118.1																																																																																				0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Silent	T	7579312	C	T	7579312	5	4	698	1	0	0	0	0	0	0	1	0	16386	666	23	1	927	1	TP53	17	7579312	Splice_Site	SNP	C	TCGA-KL-8329-01A-11D-2310-10	1077	7579312	73615898	79	38779			2	69		3	3	1719	N	T_C_A	1.564135e-05
RAB11FIP4	84440	ucsc.edu	37	17	29844874	29844874	+	Missense_Mutation	SNP	G	G	T			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr17:29844874G>T	ENST00000325874.8	+	4	771	c.542G>T	c.(541-543)gGc>gTc	p.G181V	RN7SL45P_ENST00000578050.1_RNA|RAB11FIP4_ENST00000394744.2_Missense_Mutation_p.G79V	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	181	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis (GO:0000910)|transport (GO:0006810)|viral process (GO:0016032)	cleavage furrow (GO:0032154)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|midbody (GO:0030496)|recycling endosome membrane (GO:0055038)	ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				GGACTTGGGGGCCTGTTTCTG	0.567																																																0													13	16	15					17																	29844874		1993	3892	5885	SO:0001583	missense	84440			AB058724	CCDS11267.1	17q11.2	2013-01-10			ENSG00000131242	ENSG00000131242		"EF-hand domain containing"	30267	protein-coding gene	gene with protein product		611999				11347906, 11468690	Standard	NM_032932		Approved	RAB11-FIP4, KIAA1821, MGC11316, FLJ00131	uc002hgn.1	Q86YS3	OTTHUMG00000132787	ENST00000325874.8:c.542G>T	17.37:g.29844874G>T	ENSP00000312837:p.Gly181Val		Q52LI1|Q8N829|Q8NDT7|Q969D8	Missense_Mutation	SNP	ENST00000325874.8	37	CCDS11267.1	.	.	.	.	.	.	.	.	.	.	G	9.799	1.180141	0.21787	.	.	ENSG00000131242	ENST00000325874;ENST00000394744	.	.	.	5.55	2.41	0.29592	.	0.349613	0.32769	N	0.005677	T	0.43033	0.1229	L	0.29908	0.895	0.58432	D	0.999993	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.001	T	0.16482	-1.0401	8	.	.	.	-19.5212	13.7733	0.63038	0.0:0.4485:0.5515:0.0	.	79;181	Q86YS3-2;Q86YS3	.;RFIP4_HUMAN	V	181	.	.	G	+	2	0	RAB11FIP4	26868994	1.000000	0.71417	0.722000	0.30670	0.925000	0.55904	2.658000	0.46733	0.290000	0.22444	-0.438000	0.05819	GGC		0.567	RAB11FIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256195.2	NM_032932		T	29844874	G	T	29844874	3	4	698	1	0	0	0	0	1	0	0	0	12902	1203	42	4	556	4	RAB11FIP4	17	29844874	Missense_Mutation	SNP	G	TCGA-KL-8329-01A-11D-2310-10	22265562	29844874	51350336	80	38780											
TLK2	11011	mdanderson.org	37	17	60637441	60637441	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr17:60637441G>A	ENST00000326270.9	+	10	1053	c.785G>A	c.(784-786)cGa>cAa	p.R262Q	TLK2_ENST00000542523.1_Missense_Mutation_p.R230Q|TLK2_ENST00000582809.1_Missense_Mutation_p.R113Q|TLK2_ENST00000343388.7_Missense_Mutation_p.R230Q|TLK2_ENST00000346027.5_Missense_Mutation_p.R262Q	NM_001284333.1	NP_001271262.1	Q86UE8	TLK2_HUMAN	tousled-like kinase 2	262			R -> Q. {ECO:0000269|PubMed:17344846}.		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)	p.R262Q(17)|p.R261Q(9)		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						TACAAGGAACGATTAAATAGA	0.358																																																26	Substitution - Missense(26)	endometrium(15)|kidney(9)|central_nervous_system(2)											72	74	73					17																	60637441		2203	4298	6501	SO:0001583	missense	11011			AB004884	CCDS11633.1, CCDS45753.1, CCDS62283.1	17q23	2008-07-18							11842	protein-coding gene	gene with protein product		608439				9427565, 10523312	Standard	NM_006852		Approved	PKU-ALPHA, MGC44450	uc002izz.4	Q86UE8		ENST00000326270.9:c.785G>A	17.37:g.60637441G>A	ENSP00000316512:p.Arg262Gln		D3DU07|Q9UKI7|Q9Y4F7	Missense_Mutation	SNP	ENST00000326270.9	37		.	.	.	.	.	.	.	.	.	.	G	17.31	3.356600	0.61293	.	.	ENSG00000146872	ENST00000346027;ENST00000343388;ENST00000326270;ENST00000542523	T;T;T;T	0.66460	-0.16;-0.21;-0.13;-0.21	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.70474	0.3228	N	0.26092	0.79	0.80722	D	1	D;B;B;B	0.89917	1.0;0.369;0.031;0.135	D;B;B;B	0.85130	0.997;0.074;0.016;0.012	T	0.64896	-0.6299	10	0.17369	T	0.5	.	16.8221	0.85835	0.0:0.0:1.0:0.0	.	262;230;262;262	Q86UE8;Q86UE8-3;Q86UE8-2;D3DU05	TLK2_HUMAN;.;.;.	Q	262;230;262;230	ENSP00000275780:R262Q;ENSP00000340800:R230Q;ENSP00000316512:R262Q;ENSP00000442311:R230Q	ENSP00000316512:R262Q	R	+	2	0	TLK2	57991173	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.504000	0.97986	2.516000	0.84829	0.655000	0.94253	CGA		0.358	TLK2-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000445140.1	NM_006852		A	60637441	G	A	60637441	3	1	698	1	0	0	0	0	1	0	0	0	15949	1058	37	1	819	1	TLK2	17	60637441	Missense_Mutation	SNP	G	TCGA-KL-8329-01A-11D-2310-10	30792567	60637441	20557769	81	38781											
CASKIN2	57513	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	17	73502411	73502411	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr17:73502411G>A	ENST00000321617.3	-	8	1287	c.701C>T	c.(700-702)aCc>aTc	p.T234I	CASKIN2_ENST00000581870.1_Missense_Mutation_p.T234I|CASKIN2_ENST00000433559.2_Missense_Mutation_p.T152I	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	234						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)			CACCACCTCGGTCTTGCCATA	0.667																																																0													50	44	46					17																	73502411		2203	4299	6502	SO:0001583	missense	57513			AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.701C>T	17.37:g.73502411G>A	ENSP00000325355:p.Thr234Ile		B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Missense_Mutation	SNP	ENST00000321617.3	37	CCDS11723.1	.	.	.	.	.	.	.	.	.	.	G	35	5.596620	0.96602	.	.	ENSG00000177303	ENST00000321617;ENST00000433559	T;T	0.52057	0.68;0.68	5.46	5.46	0.80206	Ankyrin repeat-containing domain (4);	0.000000	0.48286	D	0.000200	T	0.53626	0.1808	N	0.12637	0.245	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.988	T	0.61163	-0.7118	10	0.54805	T	0.06	.	19.3138	0.94204	0.0:0.0:1.0:0.0	.	152;234	Q8WXE0-2;Q8WXE0	.;CSKI2_HUMAN	I	234;152	ENSP00000325355:T234I;ENSP00000406963:T152I	ENSP00000325355:T234I	T	-	2	0	CASKIN2	71014006	1.000000	0.71417	0.985000	0.45067	0.982000	0.71751	9.807000	0.99171	2.561000	0.86390	0.655000	0.94253	ACC		0.667	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447609.1	NM_020753		A	73502411	G	A	73502411	3	1	698	1	0	0	0	0	1	0	0	0	2669	1261	44	2	2959	2	CASKIN2	17	73502411	Missense_Mutation	SNP	G	TCGA-KL-8329-01A-11D-2310-10	12864970	73502411	7692799	82	38782											
SERPINB5	5268	mdanderson.org	37	18	61170782	61170782	+	Missense_Mutation	SNP	A	A	G	rs1455555	byFrequency	TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr18:61170782A>G	ENST00000382771.4	+	7	1247	c.955A>G	c.(955-957)Atc>Gtc	p.I319V		NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	319			I -> V (in dbSNP:rs1455555). {ECO:0000269|PubMed:17974005}.		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						ATCAAATGTTATCCACAAAGT	0.458													A|||	1827	0.364816	0.1884	0.4092	5008	,	,		19831	0.4871		0.4662	False		,,,				2504	0.3415															0								A	VAL/ILE	1023,3383	378.5+/-322.9	133,757,1313	92	76	81		955	0.5	0.4	18	dbSNP_88	81	4244,4356	573.4+/-389.9	1069,2106,1125	yes	missense	SERPINB5	NM_002639.4	29	1202,2863,2438	GG,GA,AA		49.3488,23.2183,40.4967	benign	319/376	61170782	5267,7739	2203	4300	6503	SO:0001583	missense	5268			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.955A>G	18.37:g.61170782A>G	ENSP00000372221:p.Ile319Val		B2R6Y4|Q6N0B4|Q8WW89	Missense_Mutation	SNP	ENST00000382771.4	37	CCDS32839.1	872	0.3992673992673993	82	0.16666666666666666	155	0.4281767955801105	263	0.4597902097902098	372	0.49076517150395776	A	0.603	-0.828305	0.02734	0.232183	0.493488	ENSG00000206075	ENST00000382771	D	0.83075	-1.68	5.95	0.527	0.17084	Serpin domain (3);	0.270437	0.36409	N	0.002601	T	0.00012	0.0000	N	0.20357	0.565	0.23271	P	0.99800098	B	0.02656	0.0	B	0.06405	0.002	T	0.24728	-1.0152	9	0.02654	T	1	.	9.8568	0.41090	0.723:0.0:0.277:0.0	rs1455555;rs3744947;rs52802635;rs60882957;rs1455555	319	P36952	SPB5_HUMAN	V	319	ENSP00000372221:I319V	ENSP00000372221:I319V	I	+	1	0	SERPINB5	59321762	0.957000	0.32711	0.446000	0.26920	0.819000	0.46315	1.402000	0.34600	0.088000	0.17205	-0.290000	0.09829	ATC		0.458	SERPINB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280629.1	NM_002639		G	61170782	A	G	61170782	3	3	698	1	0	0	0	0	1	0	0	0	14110	449	16	3	977	3	SERPINB5	18	61170782	Missense_Mutation	SNP	A	TCGA-KL-8329-01A-11D-2310-10		61170782	16906466	83	38783											
PLIN5	440503	ucsc.edu;bcgsc.ca	37	19	4534034	4534034	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr19:4534034T>C	ENST00000381848.3	-	2	133	c.53A>G	c.(52-54)gAc>gGc	p.D18G	PLIN5_ENST00000592610.1_Missense_Mutation_p.D18G|CTB-50L17.14_ENST00000586020.1_Missense_Mutation_p.T36A|PLIN5_ENST00000586133.1_Missense_Mutation_p.D18G	NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	18	Essential for lipid droplet targeting. {ECO:0000250}.|Interaction with LIPE. {ECO:0000250}.				lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|mitochondrion localization (GO:0051646)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of lipase activity (GO:0060192)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of triglyceride catabolic process (GO:0010897)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of lipase activity (GO:0060193)|positive regulation of lipid storage (GO:0010884)|positive regulation of sequestering of triglyceride (GO:0010890)|positive regulation of triglyceride biosynthetic process (GO:0010867)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						CACCTGCTGGTCCTGCTCCCA	0.607																																																0													35	39	37					19																	4534034		2027	4181	6208	SO:0001583	missense	440503			DQ839131	CCDS42473.1	19p13.3	2009-08-12			ENSG00000214456	ENSG00000214456		"Perilipins"	33196	protein-coding gene	gene with protein product	"lipid storage droplet protein 5"	613248				17234449, 19638644	Standard	NM_001013706		Approved	LSDP5, LSDA5, OXPAT, MLDP	uc002mas.3	Q00G26		ENST00000381848.3:c.53A>G	19.37:g.4534034T>C	ENSP00000371272:p.Asp18Gly		A2RRC1|Q6ZS68	Missense_Mutation	SNP	ENST00000381848.3	37	CCDS42473.1	.	.	.	.	.	.	.	.	.	.	.	2.952	-0.216591	0.06101	.	.	ENSG00000214456	ENST00000381848	T	0.05855	3.38	2.48	1.45	0.22620	.	0.840776	0.09839	U	0.749059	T	0.07279	0.0184	L	0.50333	1.59	0.09310	N	1	B;B	0.19200	0.034;0.017	B;B	0.19946	0.027;0.025	T	0.40213	-0.9575	10	0.32370	T	0.25	.	7.4427	0.27192	0.0:0.0:0.2189:0.7811	.	18;18	Q00G26-2;Q00G26	.;PLIN5_HUMAN	G	18	ENSP00000371272:D18G	ENSP00000371272:D18G	D	-	2	0	PLIN5	4485034	0.004000	0.15560	0.216000	0.23742	0.025000	0.11179	0.827000	0.27421	-0.006000	0.14370	-1.788000	0.00630	GAC		0.607	PLIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458647.1	NM_001013706		C	4534034	T	C	4534034	3	2	698	1	0	0	0	0	1	0	0	0	12095	1667	58	3	1366	3	PLIN5	19	4534034	Missense_Mutation	SNP	T	TCGA-KL-8329-01A-11D-2310-10		4534034	54594949	84	38784											
EMR2	30817	mdanderson.org	37	19	14877799	14877799	+	Missense_Mutation	SNP	G	G	C	rs12976472	byFrequency	TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr19:14877799G>C	ENST00000315576.3	-	6	929	c.478C>G	c.(478-480)Ctc>Gtc	p.L160V	EMR2_ENST00000594294.1_Missense_Mutation_p.L160V|EMR2_ENST00000353005.1_Intron|EMR2_ENST00000346057.1_Missense_Mutation_p.L160V|EMR2_ENST00000601345.1_Missense_Mutation_p.L160V|EMR2_ENST00000392965.3_Missense_Mutation_p.L160V|EMR2_ENST00000595839.1_Intron|EMR2_ENST00000392964.3_5'UTR|EMR2_ENST00000596991.2_Missense_Mutation_p.L160V|EMR2_ENST00000594076.1_Intron|EMR2_ENST00000353876.1_Intron|EMR2_ENST00000392967.2_Missense_Mutation_p.L160V|EMR2_ENST00000599423.1_5'Flank	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	160	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						CCTGTGCAGAGCTTCGGGTCC	0.617																																																0								G	VAL/LEU,VAL/LEU,,,VAL/LEU,VAL/LEU,	1741,2609		740,261,1174	36	42	40		478,478,,,478,478,	-1.3	0	19	dbSNP_121	40	2362,6160		964,434,2863	yes	missense,missense,intron,intron,missense,missense,intron	EMR2	NM_013447.2,NM_152916.1,NM_152917.1,NM_152918.1,NM_152919.1,NM_152920.1,NM_152921.1	32,32,,,32,32,	1704,695,4037	CC,CG,GG		27.7165,40.023,31.8754	benign,benign,,,benign,benign,	160/824,160/775,,,160/813,160/764,	14877799	4103,8769	2175	4261	6436	SO:0001583	missense	30817			AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"CD molecules", "-", "GPCR / Class B : Orphans"	3337	protein-coding gene	gene with protein product		606100	"egf-like module containing, mucin-like, hormone receptor-like sequence 2"				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.478C>G	19.37:g.14877799G>C	ENSP00000319883:p.Leu160Val		B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Missense_Mutation	SNP	ENST00000315576.3	37	CCDS32935.1	839	0.3841575091575092	243	0.49390243902439024	152	0.4198895027624309	169	0.29545454545454547	275	0.3627968337730871	G	0.563	-0.844360	0.02671	0.40023	0.277165	ENSG00000127507	ENST00000315576;ENST00000392967;ENST00000346057;ENST00000360222;ENST00000392965;ENST00000392962	T;T;T;T;T	0.78364	-0.86;-0.99;-1.17;-1.15;-1.04	3.06	-1.28	0.09318	EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	P;B;B;B	0.42757	0.789;0.008;0.097;0.019	B;B;B;B	0.40940	0.344;0.019;0.046;0.015	T	0.30297	-0.9983	8	0.09590	T	0.72	.	4.8562	0.13561	0.0:0.2107:0.3614:0.4279	rs12976472	160;160;160;160	E7ESD7;Q9UHX3-3;Q9UHX3;Q9UHX3-2	.;.;EMR2_HUMAN;.	V	160	ENSP00000319883:L160V;ENSP00000376694:L160V;ENSP00000263380:L160V;ENSP00000376692:L160V;ENSP00000376689:L160V	ENSP00000319883:L160V	L	-	1	0	EMR2	14738799	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-0.286000	0.08399	0.069000	0.16605	0.508000	0.49915	CTC		0.617	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466502.2			C	14877799	G	C	14877799	3	2	698	1	0	0	0	0	1	0	0	0	5107	971	34	4	2057	4	EMR2	19	14877799	Missense_Mutation	SNP	G	TCGA-KL-8329-01A-11D-2310-10	10343765	14877799	44251184	85	38785											
ZNF676	163223	mdanderson.org	37	19	22363737	22363737	+	Missense_Mutation	SNP	C	C	G	rs572031376	byFrequency	TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr19:22363737C>G	ENST00000397121.2	-	3	1099	c.782G>C	c.(781-783)gGa>gCa	p.G261A		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	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)			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)				GCTACTAAATCCTTTGCCACA	0.393													G|||	17	0.00339457	0.0015	0.0029	5008	,	,		24868	0.0089		0.003	False		,,,				2504	0.001															0													89	96	93					19																	22363737		2158	4274	6432	SO:0001583	missense	163223			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.782G>C	19.37:g.22363737C>G	ENSP00000380310:p.Gly261Ala		A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	0.001	-3.455683	0.00012	.	.	ENSG00000196109	ENST00000397121	T	0.35236	1.32	0.81	-1.62	0.08372	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09247	0.0228	N	0.00788	-1.185	0.09310	N	1	B	0.11235	0.004	B	0.14023	0.01	T	0.28996	-1.0026	9	0.02654	T	1	.	8.4431	0.32826	0.0:0.685:0.315:0.0	.	261	Q8N7Q3	ZN676_HUMAN	A	261	ENSP00000380310:G261A	ENSP00000380310:G261A	G	-	2	0	ZNF676	22155577	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-0.024000	0.12435	-1.409000	0.02038	-1.398000	0.01145	GGA		0.393	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		G	22363737	C	G	22363737	3	3	698	1	0	0	0	0	1	0	0	0	18088	855	30	4	988	4	ZNF676	19	22363737	Missense_Mutation	SNP	C	TCGA-KL-8329-01A-11D-2310-10	7485938	22363737	36765246	86	38786											
ANKRD27	84079	broad.mit.edu;mdanderson.org	37	19	33113410	33113410	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr19:33113410T>C	ENST00000306065.4	-	18	1903	c.1745A>G	c.(1744-1746)gAg>gGg	p.E582G		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	582					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					CAGCAATGTCTCTATGACGCC	0.527																																																0													204	184	191					19																	33113410		2203	4300	6503	SO:0001583	missense	84079			AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"Ankyrin repeat domain containing"	25310	protein-coding gene	gene with protein product	"Vps9 domain and ankyrin-repeat-containing protein"					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.1745A>G	19.37:g.33113410T>C	ENSP00000304292:p.Glu582Gly		Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Missense_Mutation	SNP	ENST00000306065.4	37	CCDS32986.1	.	.	.	.	.	.	.	.	.	.	T	15.95	2.984865	0.53934	.	.	ENSG00000105186	ENST00000306065	T	0.68025	-0.3	5.31	5.31	0.75309	Ankyrin repeat-containing domain (3);	0.098841	0.43919	D	0.000519	T	0.67069	0.2854	M	0.71206	2.165	0.80722	D	1	P	0.40332	0.713	B	0.37731	0.257	T	0.73183	-0.4063	10	0.72032	D	0.01	-27.6989	15.5369	0.76011	0.0:0.0:0.0:1.0	.	582	Q96NW4	ANR27_HUMAN	G	582	ENSP00000304292:E582G	ENSP00000304292:E582G	E	-	2	0	ANKRD27	37805250	1.000000	0.71417	1.000000	0.80357	0.639000	0.38242	4.630000	0.61297	2.135000	0.66039	0.533000	0.62120	GAG		0.527	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1	NM_032139		C	33113410	T	C	33113410	3	2	698	1	0	0	0	0	1	0	0	0	655	1551	54	3	1455	3	ANKRD27	19	33113410	Missense_Mutation	SNP	T	TCGA-KL-8329-01A-11D-2310-10	10749673	33113410	26015573	87	38787											
CEACAM5	1048	broad.mit.edu;mdanderson.org;bcgsc.ca	37	19	42222091	42222091	+	Missense_Mutation	SNP	C	C	T	rs368617829		TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr19:42222091C>T	ENST00000221992.6	+	6	1396	c.1282C>T	c.(1282-1284)Cgt>Tgt	p.R428C	CEACAM5_ENST00000398599.4_Missense_Mutation_p.R427C|CEACAM5_ENST00000405816.1_Missense_Mutation_p.R428C|CEA_ENST00000598976.1_Intron	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	428	Ig-like 5.				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)		CACCTATTACCGTCCAGGGGT	0.537																																																0								C	CYS/ARG	0,4406		0,0,2203	117	104	108		1282	-4.8	0	19		108	1,8599	1.2+/-3.3	0,1,4299	no	missense	CEACAM5	NM_004363.2	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	428/703	42222091	1,13005	2203	4300	6503	SO:0001583	missense	1048			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.1282C>T	19.37:g.42222091C>T	ENSP00000221992:p.Arg428Cys		H9KVA7	Missense_Mutation	SNP	ENST00000221992.6	37	CCDS12584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.391|9.391	1.075422|1.075422	0.20227|0.20227	0.0|0.0	1.16E-4|1.16E-4	ENSG00000105388|ENSG00000105388	ENST00000398599|ENST00000221992;ENST00000405816;ENST00000378181	.|T;T	.|0.13901	.|2.55;2.55	2.39|2.39	-4.78|-4.78	0.03209|0.03209	.|Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|.	.|.	.|.	.|.	T|T	0.36496|0.36496	0.0969|0.0969	H|H	0.94847|0.94847	3.59|3.59	0.09310|0.09310	N|N	1|1	.|D;D	.|0.89917	.|1.0;0.994	.|D;P	.|0.74348	.|0.983;0.903	T|T	0.10706|0.10706	-1.0618|-1.0618	5|9	.|0.39692	.|T	.|0.17	.|.	3.1996|3.1996	0.06645|0.06645	0.4898:0.232:0.0:0.2782|0.4898:0.232:0.0:0.2782	.|.	.|428;428	.|P06731;Q53G30	.|CEAM5_HUMAN;.	L|C	423|428;428;146	.|ENSP00000221992:R428C;ENSP00000385072:R428C	.|ENSP00000221992:R428C	P|R	+|+	2|1	0|0	CEACAM5|CEACAM5	46913931|46913931	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-1.139000|-1.139000	0.03213|0.03213	-1.408000|-1.408000	0.02040|0.02040	-1.948000|-1.948000	0.00487|0.00487	CCG|CGT		0.537	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363		T	42222091	C	T	42222091	3	4	698	1	0	0	0	0	1	0	0	0	3197	652	23	1	1304	1	CEACAM5	19	42222091	Missense_Mutation	SNP	C	TCGA-KL-8329-01A-11D-2310-10	9108681	42222091	16906892	88	38788											
ZNF225	7768	broad.mit.edu;hgsc.bcm.edu	37	19	44635141	44635142	+	Frame_Shift_Ins	INS	-	-	CAAA			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr19:44635141_44635142insCAAA	ENST00000262894.6	+	5	654_655	c.374_375insCAAA	c.(373-378)tccaaafs	p.-127fs	ZNF225_ENST00000590612.1_Frame_Shift_Ins_p.-127fs|ZNF225_ENST00000592780.1_3'UTR	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				TTTCAGTTCTCCAAACAAGATG	0.421																																																0																																										SO:0001589	frameshift_variant	7768			AF187991	CCDS46100.1	19q13.31	2013-01-08				ENSG00000256294		"Zinc fingers, C2H2-type", "-"	13018	protein-coding gene	gene with protein product							Standard	NM_013362		Approved		uc002oyj.1	Q9UK10		ENST00000262894.6:c.375_378dupCAAA	19.37:g.44635142_44635145dupCAAA	ENSP00000262894:p.Gln127fs		A8K8S2|Q53F12|Q9NS46|Q9UID8	Frame_Shift_Ins	INS	ENST00000262894.6	37	CCDS46100.1																																																																																				0.421	ZNF225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460581.1			CAAA	44635142	-	CAAA	44635141	7	5	698	1	0	1	1	0	0	0	0	0	17784	855	30	0	388	0	ZNF225	19	44635141	Frame_Shift_Ins	INS	-	TCGA-KL-8329-01A-11D-2310-10	2413050	44635141	14493842	89	38789	305	2									
ZNF225	7768	bcgsc.ca	37	19	44635142	44635143	+	Frame_Shift_Ins	INS	-	-	CAAA	rs184915163	byFrequency	TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr19:44635142_44635143insCAAA	ENST00000262894.6	+	5	655_656	c.375_376insCAAA	c.(376-378)aaafs	p.-125fs	ZNF225_ENST00000590612.1_Frame_Shift_Ins_p.-125fs|ZNF225_ENST00000592780.1_3'UTR	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				TTCAGTTCTCCAAACAAGATGA	0.421																																																0																																										SO:0001589	frameshift_variant	7768			AF187991	CCDS46100.1	19q13.31	2013-01-08				ENSG00000256294		"Zinc fingers, C2H2-type", "-"	13018	protein-coding gene	gene with protein product							Standard	NM_013362		Approved		uc002oyj.1	Q9UK10		Exception_encountered	19.37:g.44635142_44635143insCAAA	ENSP00000262894:p.Ser125fs		A8K8S2|Q53F12|Q9NS46|Q9UID8	Frame_Shift_Ins	INS	ENST00000262894.6	37	CCDS46100.1																																																																																				0.421	ZNF225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460581.1			CAAA	44635143	-	CAAA	44635142	7	5	698	1	0	1	1	0	0	0	0	0	17784	581	21	0	389	0	ZNF225	19	44635142	Frame_Shift_Ins	INS	-	TCGA-KL-8329-01A-11D-2310-10	1	44635142	14493841	90	38790	305	2									
ZNF285	26974	mdanderson.org	37	19	44890685	44890685	+	Silent	SNP	T	T	G	rs73039936	byFrequency	TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr19:44890685T>G	ENST00000330997.4	-	4	1786	c.1722A>C	c.(1720-1722)ggA>ggC	p.G574G	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Silent_p.G574G|ZNF285_ENST00000591679.1_Silent_p.G581G	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	574					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						GAAGGTCCTTTCCACGCTCAC	0.418													T|||	491	0.0980431	0.0446	0.0821	5008	,	,		24509	0.1696		0.0646	False		,,,				2504	0.1421															0													161	129	140					19																	44890685		2203	4300	6503	SO:0001819	synonymous_variant	26974			AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"Zinc fingers, C2H2-type", "-"	13079	protein-coding gene	gene with protein product			"zinc finger protein 285A"	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.1722A>C	19.37:g.44890685T>G			Q17RJ3|Q6B0A8|Q6ISR5	Silent	SNP	ENST00000330997.4	37	CCDS12638.1																																																																																				0.418	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354		G	44890685	T	G	44890685	2	3	698	1	0	0	0	0	0	0	0	1	17827	1770	62	5		5	ZNF285	19	44890685	Silent	SNP	T	TCGA-KL-8329-01A-11D-2310-10	255543	44890685	14238298	91	38791											
LILRB5	10990	mdanderson.org	37	19	54758897	54758897	+	Missense_Mutation	SNP	A	A	T	rs201754865		TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr19:54758897A>T	ENST00000316219.5	-	6	1063	c.956T>A	c.(955-957)cTg>cAg	p.L319Q	LILRB5_ENST00000449561.2_Missense_Mutation_p.L319Q|LILRB5_ENST00000345866.6_Missense_Mutation_p.L219Q|LILRB5_ENST00000450632.1_Missense_Mutation_p.L310Q	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	319					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)		GTCAGGGATCAGTCCTGGAGA	0.597																																																0													21	21	21					19																	54758897		2202	4300	6502	SO:0001583	missense	10990			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.956T>A	19.37:g.54758897A>T	ENSP00000320390:p.Leu319Gln		Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	A	0.011	-1.693568	0.00731	.	.	ENSG00000105609	ENST00000316219;ENST00000450632;ENST00000449561;ENST00000345866	T;T;T;T	0.00476	7.2;7.15;7.19;7.18	3.32	-4.58	0.03410	.	1.425370	0.05061	N	0.479896	T	0.00109	0.0003	N	0.00277	-1.72	0.09310	N	1	B;B;B;B;B	0.12630	0.001;0.006;0.003;0.001;0.0	B;B;B;B;B	0.12837	0.004;0.008;0.007;0.002;0.002	T	0.43458	-0.9390	10	0.02654	T	1	.	0.9412	0.01355	0.3013:0.1143:0.3475:0.2369	.	310;210;219;319;319	C9JMK7;Q8NF80;O75023-2;O75023-3;O75023	.;.;.;.;LIRB5_HUMAN	Q	319;310;319;219	ENSP00000320390:L319Q;ENSP00000414225:L310Q;ENSP00000406478:L319Q;ENSP00000263430:L219Q	ENSP00000320390:L319Q	L	-	2	0	LILRB5	59450709	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.550000	0.00434	-0.714000	0.04975	-0.460000	0.05396	CTG		0.597	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			T	54758897	A	T	54758897	3	4	698	1	0	0	0	0	1	0	0	0	8796	188	7	5	851	5	LILRB5	19	54758897	Missense_Mutation	SNP	A	TCGA-KL-8329-01A-11D-2310-10	9868212	54758897	4370086	92	38792			3	70		3	3	394	N	G_C_A	8.19239e-07
LILRB5	10990	mdanderson.org	37	19	54759241	54759241	+	Missense_Mutation	SNP	C	C	G	rs146167320		TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr19:54759241C>G	ENST00000316219.5	-	5	967	c.860G>C	c.(859-861)cGc>cCc	p.R287P	LILRB5_ENST00000449561.2_Missense_Mutation_p.R287P|LILRB5_ENST00000345866.6_Missense_Mutation_p.R187P|LILRB5_ENST00000450632.1_Missense_Mutation_p.R278P	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	287	Ig-like C2-type 3.				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)		CCCGTGGGAGCGGCTCACAGG	0.662																																																0													42	43	42					19																	54759241		2203	4299	6502	SO:0001583	missense	10990			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.860G>C	19.37:g.54759241C>G	ENSP00000320390:p.Arg287Pro		Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	C	0.152	-1.090490	0.01873	.	.	ENSG00000105609	ENST00000316219;ENST00000450632;ENST00000449561;ENST00000345866	T;T;T;T	0.11277	2.79;2.79;2.79;2.79	2.35	-4.71	0.03279	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	3.187420	0.01181	N	0.007095	T	0.04272	0.0118	N	0.03294	-0.36	0.09310	N	1	B;B;B;B;B	0.23185	0.012;0.081;0.034;0.066;0.003	B;B;B;B;B	0.27500	0.036;0.033;0.045;0.08;0.018	T	0.27226	-1.0080	10	0.23302	T	0.38	.	0.448	0.00497	0.3596:0.2013:0.2366:0.2026	.	278;178;187;287;287	C9JMK7;Q8NF80;O75023-2;O75023-3;O75023	.;.;.;.;LIRB5_HUMAN	P	287;278;287;187	ENSP00000320390:R287P;ENSP00000414225:R278P;ENSP00000406478:R287P;ENSP00000263430:R187P	ENSP00000320390:R287P	R	-	2	0	LILRB5	59451053	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-4.171000	0.00281	-3.550000	0.00142	-0.827000	0.03088	CGC		0.662	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			G	54759241	C	G	54759241	3	3	698	1	0	0	0	0	1	0	0	0	8796	768	27	4	951	4	LILRB5	19	54759241	Missense_Mutation	SNP	C	TCGA-KL-8329-01A-11D-2310-10	344	54759241	4369742	93	38793			3	70		3	3	394	N	G_C_A	8.19239e-07
LILRB5	10990	mdanderson.org	37	19	54759290	54759290	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr19:54759290G>A	ENST00000316219.5	-	5	918	c.811C>T	c.(811-813)Ccc>Tcc	p.P271S	LILRB5_ENST00000449561.2_Missense_Mutation_p.P271S|LILRB5_ENST00000345866.6_Missense_Mutation_p.P171S|LILRB5_ENST00000450632.1_Missense_Mutation_p.P262S	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	271	Ig-like C2-type 3.				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)		CCAGCCTGGGGCTGCTGGCCA	0.627																																																0													45	46	46					19																	54759290		2203	4300	6503	SO:0001583	missense	10990			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.811C>T	19.37:g.54759290G>A	ENSP00000320390:p.Pro271Ser		Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	G	8.086	0.773447	0.16051	.	.	ENSG00000105609	ENST00000316219;ENST00000450632;ENST00000449561;ENST00000345866	T;T;T;T	0.00675	5.88;5.88;5.88;5.88	2.19	-4.38	0.03622	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.405960	0.04922	N	0.455206	T	0.01156	0.0038	L	0.29908	0.895	0.09310	N	1	B;P;P;P;P	0.47302	0.437;0.586;0.544;0.88;0.893	B;B;B;P;P	0.53689	0.349;0.389;0.353;0.583;0.732	T	0.36480	-0.9746	10	0.36615	T	0.2	.	4.0167	0.09647	0.1434:0.0:0.2763:0.5803	.	262;162;171;271;271	C9JMK7;Q8NF80;O75023-2;O75023-3;O75023	.;.;.;.;LIRB5_HUMAN	S	271;262;271;171	ENSP00000320390:P271S;ENSP00000414225:P262S;ENSP00000406478:P271S;ENSP00000263430:P171S	ENSP00000320390:P271S	P	-	1	0	LILRB5	59451102	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.421000	0.07053	-0.890000	0.03945	-0.493000	0.04662	CCC		0.627	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			A	54759290	G	A	54759290	3	1	698	1	0	0	0	0	1	0	0	0	8796	1203	42	2	1000	2	LILRB5	19	54759290	Missense_Mutation	SNP	G	TCGA-KL-8329-01A-11D-2310-10	49	54759290	4369693	94	38794			3	70		3	3	394	N	G_C_A	8.19239e-07
LILRA4	23547	mdanderson.org	37	19	54845018	54845018	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr19:54845018T>C	ENST00000291759.4	-	8	1381	c.1325A>G	c.(1324-1326)tAc>tGc	p.Y442C	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	442					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)		CTCCACTGTGTAATCCTGGAG	0.562																																																0													104	94	97					19																	54845018		2203	4300	6503	SO:0001583	missense	23547			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.1325A>G	19.37:g.54845018T>C	ENSP00000291759:p.Tyr442Cys		Q32MC4	Missense_Mutation	SNP	ENST00000291759.4	37	CCDS12890.1	.	.	.	.	.	.	.	.	.	.	.	12.61	1.990687	0.35131	.	.	ENSG00000239961	ENST00000291759	T	0.00644	6.01	3.08	2.05	0.26809	.	4.632680	0.00961	N	0.003108	T	0.03520	0.0101	M	0.80616	2.505	0.09310	N	1	D	0.76494	0.999	D	0.70487	0.969	T	0.30446	-0.9978	10	0.66056	D	0.02	.	4.8432	0.13501	0.0:0.1453:0.0:0.8547	.	442	P59901	LIRA4_HUMAN	C	442	ENSP00000291759:Y442C	ENSP00000291759:Y442C	Y	-	2	0	LILRA4	59536830	0.515000	0.26210	0.046000	0.18839	0.038000	0.13279	0.744000	0.26245	0.581000	0.29539	0.460000	0.39030	TAC		0.562	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140229.2	NM_012276		C	54845018	T	C	54845018	3	2	698	1	0	0	0	0	1	0	0	0	8789	1638	57	3	178	3	LILRA4	19	54845018	Missense_Mutation	SNP	T	TCGA-KL-8329-01A-11D-2310-10	85728	54845018	4283965	95	38795	306	2									
LILRA4	23547	mdanderson.org	37	19	54845027	54845027	+	Missense_Mutation	SNP	A	A	T	rs534532199	byFrequency	TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr19:54845027A>T	ENST00000291759.4	-	8	1372	c.1316T>A	c.(1315-1317)cTc>cAc	p.L439H	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	439					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)		GTAATCCTGGAGGTGTGGGGC	0.562													A|||	38	0.00758786	0.0	0.0	5008	,	,		20088	0.002		0.004	False		,,,				2504	0.0327															0													106	95	99					19																	54845027		2203	4300	6503	SO:0001583	missense	23547			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.1316T>A	19.37:g.54845027A>T	ENSP00000291759:p.Leu439His		Q32MC4	Missense_Mutation	SNP	ENST00000291759.4	37	CCDS12890.1	.	.	.	.	.	.	.	.	.	.	.	0.637	-0.815062	0.02776	.	.	ENSG00000239961	ENST00000291759	T	0.00514	6.88	2.96	-5.63	0.02474	.	.	.	.	.	T	0.00328	0.0010	L	0.31578	0.945	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.35400	-0.9790	9	0.45353	T	0.12	.	4.9614	0.14068	0.3711:0.0:0.4882:0.1407	.	439	P59901	LIRA4_HUMAN	H	439	ENSP00000291759:L439H	ENSP00000291759:L439H	L	-	2	0	LILRA4	59536839	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.301000	0.00257	-1.097000	0.03042	-2.427000	0.00216	CTC		0.562	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140229.2	NM_012276		T	54845027	A	T	54845027	3	4	698	1	0	0	0	0	1	0	0	0	8789	304	11	5	187	5	LILRA4	19	54845027	Missense_Mutation	SNP	A	TCGA-KL-8329-01A-11D-2310-10	9	54845027	4283956	96	38796	306	2									
CSRP2BP	57325	broad.mit.edu;mdanderson.org;bcgsc.ca	37	20	18162415	18162415	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr20:18162415T>C	ENST00000435364.3	+	7	2074	c.1733T>C	c.(1732-1734)gTa>gCa	p.V578A	CSRP2BP_ENST00000489634.2_Missense_Mutation_p.V450A|CSRP2BP_ENST00000377681.3_Missense_Mutation_p.V577A	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	578					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						TATCGCTTGGTAGGATCAGAA	0.418																																																0													144	137	139					20																	18162415		2203	4300	6503	SO:0001583	missense	57325			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.1733T>C	20.37:g.18162415T>C	ENSP00000392318:p.Val578Ala		A2A2I5|Q96GW6|Q96IH3|Q9HBF0|Q9UIY5	Missense_Mutation	SNP	ENST00000435364.3	37	CCDS13133.1	.	.	.	.	.	.	.	.	.	.	T	14.55	2.568250	0.45798	.	.	ENSG00000149474	ENST00000278816;ENST00000377681;ENST00000435364;ENST00000489634	T;T;T;T	0.15139	2.45;2.45;2.45;2.45	5.49	5.49	0.81192	.	0.051941	0.85682	D	0.000000	T	0.13286	0.0322	L	0.28115	0.83	0.39638	D	0.970282	B;B	0.21821	0.061;0.036	B;B	0.23275	0.045;0.006	T	0.07635	-1.0762	10	0.42905	T	0.14	-19.0827	11.5629	0.50788	0.0:0.0:0.1492:0.8508	.	450;578	Q9H8E8-2;Q9H8E8	.;CSR2B_HUMAN	A	578;577;578;450	ENSP00000278816:V578A;ENSP00000366909:V577A;ENSP00000392318:V578A;ENSP00000425909:V450A	ENSP00000278816:V578A	V	+	2	0	CSRP2BP	18110415	1.000000	0.71417	0.998000	0.56505	0.909000	0.53808	4.268000	0.58883	2.088000	0.63022	0.460000	0.39030	GTA		0.418	CSRP2BP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078152.5	NM_020536		C	18162415	T	C	18162415	3	2	698	1	0	0	0	0	1	0	0	0	3970	1638	57	3	1759	3	CSRP2BP	20	18162415	Missense_Mutation	SNP	T	TCGA-KL-8329-01A-11D-2310-10		18162415	44863105	97	38797											
EEF1A2	1917	broad.mit.edu;mdanderson.org	37	20	62127325	62127325	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr20:62127325C>T	ENST00000298049.7	-	2	278	c.208G>A	c.(208-210)Ggc>Agc	p.G70S	EEF1A2_ENST00000217182.3_Missense_Mutation_p.G70S			Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	70	G2. {ECO:0000250}.|tr-type G.		G -> S (found in a patient with mental retardation, severe delay of psychomotor development, very limited speech, autistic features and aggressive behaviors). {ECO:0000269|PubMed:23033978}.		positive regulation of apoptotic process (GO:0043065)|response to inorganic substance (GO:0010035)	eukaryotic translation elongation factor 1 complex (GO:0005853)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			ATGGTGATGCCGCGCTCACGC	0.597											OREG0026129	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													239	187	205					20																	62127325		2203	4299	6502	SO:0001583	missense	1917			AF163763	CCDS13522.1	20q13.3	2010-06-03			ENSG00000101210	ENSG00000101210			3192	protein-coding gene	gene with protein product		602959	"statin-like", "statin"	STNL, STN		8354261, 8812466	Standard	NM_001958		Approved	EEF1AL, HS1	uc002yfe.2	Q05639	OTTHUMG00000033076	ENST00000298049.7:c.208G>A	20.37:g.62127325C>T	ENSP00000298049:p.Gly70Ser	1058	B5BUF3|E1P5J1|P54266|Q0VGC7	Missense_Mutation	SNP	ENST00000298049.7	37	CCDS13522.1	.	.	.	.	.	.	.	.	.	.	C	34	5.304450	0.95601	.	.	ENSG00000101210	ENST00000298049;ENST00000217182	T;T	0.77877	-1.13;-1.13	4.01	4.01	0.46588	Protein synthesis factor, GTP-binding (3);	0.057240	0.64402	D	0.000002	D	0.91673	0.7368	H	0.96301	3.8	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.98	D	0.94708	0.7889	10	0.87932	D	0	-3.5841	16.4593	0.84031	0.0:1.0:0.0:0.0	.	46;70	Q59GP5;Q05639	.;EF1A2_HUMAN	S	70	ENSP00000298049:G70S;ENSP00000217182:G70S	ENSP00000217182:G70S	G	-	1	0	EEF1A2	61597769	1.000000	0.71417	0.979000	0.43373	0.893000	0.52053	7.663000	0.83820	1.954000	0.56735	0.313000	0.20887	GGC		0.597	EEF1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080495.1	NM_001958		T	62127325	C	T	62127325	3	4	698	1	0	0	0	0	1	0	0	0	4926	652	23	1	1207	1	EEF1A2	20	62127325	Missense_Mutation	SNP	C	TCGA-KL-8329-01A-11D-2310-10	43964910	62127325	898195	98	38798											
KRTAP26-1	388818	broad.mit.edu	37	21	31692295	31692296	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr21:31692295_31692296insG	ENST00000360542.3	-	1	311_312	c.58_59insC	c.(58-60)cgcfs	p.R20fs		NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	20						intermediate filament (GO:0005882)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						AGGAATATGGCGGGAGGTTCTG	0.53																																																0																																										SO:0001589	frameshift_variant	388818			AB096936	CCDS13588.1	21q22.11	2007-11-23			ENSG00000197683	ENSG00000197683		"Keratin associated proteins"	33760	protein-coding gene	gene with protein product							Standard	NM_203405		Approved		uc002ynw.3	Q6PEX3	OTTHUMG00000057766	ENST00000360542.3:c.59dupC	21.37:g.31692298_31692298dupG	ENSP00000353742:p.Arg20fs		B0RZD3	Frame_Shift_Ins	INS	ENST00000360542.3	37	CCDS13588.1																																																																																				0.53	KRTAP26-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128218.1	NM_203405		G	31692296	-	G	31692295	7	5	698	1	0	1	1	0	0	0	0	0	8545	768	27	0	577	0	KRTAP26-1	21	31692295	Frame_Shift_Ins	INS	-	TCGA-KL-8329-01A-11D-2310-10		31692295	16437600	99	38799											
TIAM1	7074	broad.mit.edu;hgsc.bcm.edu	37	21	32624265	32624265	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr21:32624265C>T	ENST00000286827.3	-	6	1675	c.1204G>A	c.(1204-1206)Gag>Aag	p.E402K	TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Missense_Mutation_p.E402K	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	402					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						CCGGCCTCCTCCAGGCTCTCG	0.697																																																0													34	40	38					21																	32624265		2203	4299	6502	SO:0001583	missense	7074				CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.1204G>A	21.37:g.32624265C>T	ENSP00000286827:p.Glu402Lys		B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.545166	0.86022	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	T;T	0.46451	0.87;0.88	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.46795	0.1411	M	0.62723	1.935	0.80722	D	1	P;P;P;P	0.42456	0.649;0.518;0.78;0.518	B;B;B;B	0.41510	0.359;0.197;0.265;0.197	T	0.54289	-0.8316	10	0.62326	D	0.03	.	18.1782	0.89768	0.0:1.0:0.0:0.0	.	402;402;243;402	F5GZ53;B7ZLR6;E9PD83;Q13009	.;.;.;TIAM1_HUMAN	K	402;243;402	ENSP00000286827:E402K;ENSP00000441570:E402K	ENSP00000286827:E402K	E	-	1	0	TIAM1	31546136	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.190000	0.77755	2.497000	0.84241	0.655000	0.94253	GAG		0.697	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		T	32624265	C	T	32624265	3	4	698	1	0	0	0	0	1	0	0	0	15895	864	30	2	3667	2	TIAM1	21	32624265	Missense_Mutation	SNP	C	TCGA-KL-8329-01A-11D-2310-10	931970	32624265	15505630	100	38800											
GCFC1	94104	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	21	34134451	34134451	+	Missense_Mutation	SNP	G	G	T			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr21:34134451G>T	ENST00000331923.4	-	4	1016	c.827C>A	c.(826-828)tCt>tAt	p.S276Y	PAXBP1_ENST00000290178.4_Missense_Mutation_p.S276Y|PAXBP1_ENST00000472588.1_5'UTR	NM_016631.3	NP_057715.2	Q9Y5B6	PAXB1_HUMAN	PAX3 and PAX7 binding protein 1	276					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)										TTCTTTCACAGAAAAAACTAT	0.368																																																0													119	121	120					21																	34134451		2203	4300	6503	SO:0001583	missense	94104			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.827C>A	21.37:g.34134451G>T	ENSP00000328992:p.Ser276Tyr		D3DSE7|Q96DU8|Q9NYQ0	Missense_Mutation	SNP	ENST00000331923.4	37	CCDS13619.1	.	.	.	.	.	.	.	.	.	.	G	32	5.119781	0.94385	.	.	ENSG00000159086	ENST00000331923;ENST00000290178	T;T	0.31510	1.92;1.49	5.98	5.98	0.97165	.	0.162808	0.56097	D	0.000027	T	0.55689	0.1936	M	0.70595	2.14	0.54753	D	0.999981	D;P	0.63880	0.993;0.956	D;P	0.63192	0.912;0.459	T	0.51795	-0.8660	10	0.52906	T	0.07	-16.743	20.0532	0.97636	0.0:0.0:1.0:0.0	.	276;276	Q9Y5B6-2;Q9Y5B6	.;GCFC1_HUMAN	Y	276	ENSP00000328992:S276Y;ENSP00000290178:S276Y	ENSP00000290178:S276Y	S	-	2	0	GCFC1	33056322	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.592000	0.82676	2.835000	0.97688	0.650000	0.86243	TCT		0.368	PAXBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139563.1	NM_013329		T	34134451	G	T	34134451	3	4	698	1	0	0	0	0	1	0	0	0	6291	942	33	4	2104	4	GCFC1	21	34134451	Missense_Mutation	SNP	G	TCGA-KL-8329-01A-11D-2310-10	1510186	34134451	13995444	101	38801											
SIK1	150094	broad.mit.edu	37	21	44837550	44837551	+	Frame_Shift_Ins	INS	-	-	G	rs430552	byFrequency	TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr21:44837550_44837551insG	ENST00000270162.6	-	13	1980_1981	c.1848_1849insC	c.(1846-1851)cccgccfs	p.A617fs		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	617					cardiac muscle cell differentiation (GO:0055007)|cell cycle (GO:0007049)|entrainment of circadian clock by photoperiod (GO:0043153)|intracellular signal transduction (GO:0035556)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of triglyceride biosynthetic process (GO:0010868)|positive regulation of anoikis (GO:2000210)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell differentiation (GO:0045595)|regulation of mitotic cell cycle (GO:0007346)|regulation of myotube differentiation (GO:0010830)|regulation of sodium ion transport (GO:0002028)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|cAMP response element binding protein binding (GO:0008140)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21					Dabrafenib(DB08912)	GCCCGGCTGGCGGGGGCCTGGC	0.703																																																0																																										SO:0001589	frameshift_variant	150094			BC038504	CCDS33575.1	21q22.3	2008-12-23	2008-12-23	2008-12-23	ENSG00000142178	ENSG00000142178			11142	protein-coding gene	gene with protein product	"myocardial SNF1-like kinase"	605705	"SNF1-like kinase"	SNF1LK		7893599	Standard	NM_173354		Approved	msk	uc002zdf.2	P57059	OTTHUMG00000086874	ENST00000270162.6:c.1849dupC	21.37:g.44837555_44837555dupG	ENSP00000270162:p.Ala617fs		A6NC84|Q5R2V5|Q6ZNL8|Q86YJ2	Frame_Shift_Ins	INS	ENST00000270162.6	37	CCDS33575.1																																																																																				0.703	SIK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195654.1	NM_173354		G	44837551	-	G	44837550	7	5	698	1	0	1	1	0	0	0	0	0	14323	768	27	0	510	0	SIK1	21	44837550	Frame_Shift_Ins	INS	-	TCGA-KL-8329-01A-11D-2310-10	10703099	44837550	3292345	102	38802											
MCM3AP	8888	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	21	47705096	47705096	+	Missense_Mutation	SNP	T	T	A			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr21:47705096T>A	ENST00000397708.1	-	2	359	c.105A>T	c.(103-105)caA>caT	p.Q35H	YBEY_ENST00000329319.3_5'Flank|YBEY_ENST00000397694.1_5'Flank|YBEY_ENST00000397701.4_5'Flank|YBEY_ENST00000339195.6_5'Flank|YBEY_ENST00000397691.1_5'Flank|MCM3AP_ENST00000291688.1_Missense_Mutation_p.Q35H|YBEY_ENST00000397692.1_5'Flank			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	35	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)					AAAGAGAAGGTTGACCAAATC	0.458																																																0													74	76	75					21																	47705096		2203	4300	6503	SO:0001583	missense	8888			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.105A>T	21.37:g.47705096T>A	ENSP00000380820:p.Gln35His		C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	37	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	T	18.44	3.624840	0.66901	.	.	ENSG00000160294	ENST00000397708;ENST00000291688;ENST00000426537	T;T	0.08984	3.03;3.03	5.04	1.0	0.19881	.	0.194568	0.45606	D	0.000358	T	0.10551	0.0258	L	0.29908	0.895	0.34028	D	0.653468	P	0.50710	0.938	P	0.54499	0.754	T	0.17868	-1.0355	10	0.87932	D	0	-14.0114	7.4203	0.27067	0.0:0.4632:0.0:0.5368	.	35	O60318	MCM3A_HUMAN	H	35	ENSP00000380820:Q35H;ENSP00000291688:Q35H	ENSP00000291688:Q35H	Q	-	3	2	MCM3AP	46529524	1.000000	0.71417	0.969000	0.41365	0.973000	0.67179	0.443000	0.21644	-0.005000	0.14395	0.459000	0.35465	CAA		0.458	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		A	47705096	T	A	47705096	3	1	698	1	0	0	0	0	1	0	0	0	9390	1722	60	5	5949	5	MCM3AP	21	47705096	Missense_Mutation	SNP	T	TCGA-KL-8329-01A-11D-2310-10	2867546	47705096	424799	103	38803											
TRIOBP	11078	mdanderson.org	37	22	38120095	38120095	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr22:38120095G>A	ENST00000406386.3	+	7	1787	c.1532G>A	c.(1531-1533)aGa>aAa	p.R511K		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	511					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)	p.R511K(2)		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)					GACAATCCCAGAGCCTCCAGA	0.592																																																2	Substitution - Missense(2)	kidney(1)|skin(1)											16	27	24					22																	38120095		1746	3975	5721	SO:0001583	missense	11078			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1532G>A	22.37:g.38120095G>A	ENSP00000384312:p.Arg511Lys		B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	-	12.91	2.079188	0.36662	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.20200	2.09	0.725	0.725	0.18242	.	.	.	.	.	T	0.14442	0.0349	L	0.44542	1.39	0.80722	D	1	.	.	.	.	.	.	T	0.10894	-1.0610	7	0.05620	T	0.96	.	4.9132	0.13833	0.0:0.0:1.0:0.0	.	511	Q9H2D6	TARA_HUMAN	K	511	ENSP00000384312:R511K	ENSP00000384312:R511K	R	+	2	0	TRIOBP	36450041	0.001000	0.12720	0.176000	0.23000	0.248000	0.25809	0.139000	0.16036	0.721000	0.32231	0.289000	0.19496	AGA		0.592	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			A	38120095	G	A	38120095	3	1	698	1	0	0	0	0	1	0	0	0	16558	942	33	2	1550	2	TRIOBP	22	38120095	Missense_Mutation	SNP	G	TCGA-KL-8329-01A-11D-2310-10		38120095	13184471	104	38804											
KDM5C	8242	broad.mit.edu	37	X	53222786	53222786	+	Silent	SNP	A	A	G			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chrX:53222786A>G	ENST00000375401.3	-	25	4682	c.4150T>C	c.(4150-4152)Ttg>Ctg	p.L1384L	KDM5C_ENST00000375383.3_Silent_p.L1340L|KDM5C_ENST00000404049.3_Silent_p.L1383L|KDM5C_ENST00000452825.3_Silent_p.L1314L|KDM5C_ENST00000375379.3_Silent_p.L1381L	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	1384					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						GGGCCAGTCAACTGTGGCAAC	0.592			"N, F, S"		clear cell renal carcinoma																																		Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	0													60	45	50					X																	53222786		2203	4300	6503	SO:0001819	synonymous_variant	8242			Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	11114	protein-coding gene	gene with protein product		314690	"Jumonji, AT rich interactive domain 1C (RBP2-like)", "Smcy homolog, X-linked (mouse)", "jumonji, AT rich interactive domain 1C", "mental retardation, X-linked 13"	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.4150T>C	X.37:g.53222786A>G			B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Silent	SNP	ENST00000375401.3	37	CCDS14351.1																																																																																				0.592	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187		G	53222786	A	G	53222786	2	3	698	1	0	0	0	0	0	0	0	1	8137	40	2	3		3	KDM5C	23	53222786	Silent	SNP	A	TCGA-KL-8329-01A-11D-2310-10		53222786	102047774	105	38805											
SKI	6497	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	1	2235813	2235813	+	Missense_Mutation	SNP	G	G	T	rs376322470		TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr1:2235813G>T	ENST00000378536.4	+	5	1628	c.1556G>T	c.(1555-1557)cGt>cTt	p.R519L		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	SKI proto-oncogene	519					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)		CCGGGTGCGCGTGCCCTGCCC	0.706																																					Ovarian(177;144 1678 13697 20086 27838 40755)											0													80	62	68					1																	2235813		2075	4070	6145	SO:0001583	missense	6497			X15218	CCDS39.1	1p36.33	2014-06-25	2014-06-25		ENSG00000157933	ENSG00000157933		"SKI transcriptional corepressors"	10896	protein-coding gene	gene with protein product		164780	"v-ski avian sarcoma viral oncogene homolog"			2762147	Standard	NM_003036		Approved		uc001aja.4	P12755	OTTHUMG00000001407	ENST00000378536.4:c.1556G>T	1.37:g.2235813G>T	ENSP00000367797:p.Arg519Leu		Q5SYT7	Missense_Mutation	SNP	ENST00000378536.4	37	CCDS39.1	.	.	.	.	.	.	.	.	.	.	G	0.567	-0.842773	0.02671	.	.	ENSG00000157933	ENST00000378536	D	0.95518	-3.73	4.37	0.75	0.18387	.	0.561044	0.18536	N	0.138348	T	0.81635	0.4864	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.71925	-0.4445	10	0.19147	T	0.46	-1.0583	2.8354	0.05513	0.4735:0.0:0.1886:0.3379	.	519	P12755	SKI_HUMAN	L	519	ENSP00000367797:R519L	ENSP00000367797:R519L	R	+	2	0	SKI	2225673	0.250000	0.23951	0.007000	0.13788	0.021000	0.10359	1.320000	0.33666	-0.040000	0.13580	-0.367000	0.07326	CGT		0.706	SKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004070.1	NM_003036		T	2235813	G	T	2235813	3	4	699	1	0	0	0	0	1	0	0	0	14363	1145	40	4	1574	4	SKI	1	2235813	Missense_Mutation	SNP	G	TCGA-KL-8330-01A-11D-2310-10		2235813	247014808	1	38806											
PLK3	1263	broad.mit.edu	37	1	45270133	45270133	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr1:45270133T>C	ENST00000372201.4	+	12	1704	c.1465T>C	c.(1465-1467)Ttc>Ctc	p.F489L	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	489	POLO box 1. {ECO:0000255|PROSITE- ProRule:PRU00154}.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cytoplasmic microtubule organization (GO:0031122)|endomitotic cell cycle (GO:0007113)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi disassembly (GO:0090166)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G1/S transition checkpoint (GO:0044819)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell division (GO:0051302)|regulation of cytokinesis (GO:0032465)|response to osmotic stress (GO:0006970)|response to radiation (GO:0009314)|response to reactive oxygen species (GO:0000302)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi stack (GO:0005795)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					GGCTGTGCTCTTCAACGATGG	0.567																																																0													67	72	70					1																	45270133		2203	4300	6503	SO:0001583	missense	1263			AJ293866	CCDS515.1	1p34.1	2013-01-18	2010-06-24	2004-01-28	ENSG00000173846	ENSG00000173846			2154	protein-coding gene	gene with protein product		602913	"cytokine-inducible kinase", "polo-like kinase 3 (Drosophila)"	CNK		8702627	Standard	NM_004073		Approved	FNK, PRK	uc001cmn.3	Q9H4B4	OTTHUMG00000008491	ENST00000372201.4:c.1465T>C	1.37:g.45270133T>C	ENSP00000361275:p.Phe489Leu		Q15767|Q5JR99|Q96CV1	Missense_Mutation	SNP	ENST00000372201.4	37	CCDS515.1	.	.	.	.	.	.	.	.	.	.	t	21.3	4.124835	0.77436	.	.	ENSG00000173846	ENST00000372201;ENST00000543983	T	0.58358	0.34	5.22	5.22	0.72569	POLO box duplicated domain (2);	.	.	.	.	T	0.63177	0.2489	M	0.83692	2.655	0.80722	D	1	P	0.44659	0.84	P	0.46685	0.524	T	0.67503	-0.5654	9	0.42905	T	0.14	-18.8092	14.6063	0.68481	0.0:0.0:0.0:1.0	.	489	Q9H4B4	PLK3_HUMAN	L	489;464	ENSP00000361275:F489L	ENSP00000361275:F489L	F	+	1	0	PLK3	45042720	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.284000	0.72652	2.105000	0.64084	0.529000	0.55759	TTC		0.567	PLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023429.1	NM_004073		C	45270133	T	C	45270133	3	2	699	1	0	0	0	0	1	0	0	0	12099	1609	56	3	1511	3	PLK3	1	45270133	Missense_Mutation	SNP	T	TCGA-KL-8330-01A-11D-2310-10	43034320	45270133	203980488	2	38807											
C1orf52	148423	broad.mit.edu	37	1	85718363	85718363	+	Silent	SNP	A	A	G	rs111657378		TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr1:85718363A>G	ENST00000471115.1	-	3	506	c.498T>C	c.(496-498)acT>acC	p.T166T	C1orf52_ENST00000294661.4_5'UTR	NM_198077.3	NP_932343.1	Q8N6N3	CA052_HUMAN	chromosome 1 open reading frame 52	166							poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)	10				all cancers(265;0.0105)|Epithelial(280;0.0293)		GCTTTTTAGAAGTATGCTCAT	0.318																																																0													131	118	122					1																	85718363		2202	4297	6499	SO:0001819	synonymous_variant	148423			BC029538	CCDS703.1	1p22.3	2008-02-05			ENSG00000162642	ENSG00000162642			24871	protein-coding gene	gene with protein product						11891061	Standard	NM_198077		Approved	gm117, FLJ44982	uc001dkv.3	Q8N6N3	OTTHUMG00000009966	ENST00000471115.1:c.498T>C	1.37:g.85718363A>G			B3KX89|Q8TDK5|Q8TDK6	Silent	SNP	ENST00000471115.1	37	CCDS703.1																																																																																				0.318	C1orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027616.2	NM_198077		G	85718363	A	G	85718363	2	3	699	1	0	0	0	0	0	0	0	1	2046	59	3	3		3	C1orf52	1	85718363	Silent	SNP	A	TCGA-KL-8330-01A-11D-2310-10	40448230	85718363	163532258	3	38808											
NOTCH2	4853	broad.mit.edu	37	1	120462211	120462211	+	Silent	SNP	A	A	G			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr1:120462211A>G	ENST00000256646.2	-	31	5724	c.5505T>C	c.(5503-5505)gcT>gcC	p.A1835A	NOTCH2_ENST00000493703.1_5'Flank	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1835					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)		CTCGGAGAGAAGCCAACATCA	0.463			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome																														Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	0													39	34	36					1																	120462211		2203	4300	6503	SO:0001819	synonymous_variant	4853	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	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.5505T>C	1.37:g.120462211A>G			Q5T3X7|Q99734|Q9H240	Silent	SNP	ENST00000256646.2	37	CCDS908.1																																																																																				0.463	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		G	120462211	A	G	120462211	2	3	699	1	0	0	0	0	0	0	0	1	10550	59	3	3		3	NOTCH2	1	120462211	Silent	SNP	A	TCGA-KL-8330-01A-11D-2310-10	34743848	120462211	128788410	4	38809											
FLG	2312	bcgsc.ca	37	1	152283467	152283467	+	Missense_Mutation	SNP	G	G	C	rs200557207		TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr1:152283467G>C	ENST00000368799.1	-	3	3930	c.3895C>G	c.(3895-3897)Cgg>Ggg	p.R1299G	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	1299	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)			gactgctcccgagaagatcca	0.552									Ichthyosis																																							0													177	177	177					1																	152283467		2203	4300	6503	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.3895C>G	1.37:g.152283467G>C	ENSP00000357789:p.Arg1299Gly		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	4.999	0.185600	0.09495	.	.	ENSG00000143631	ENST00000368799	T	0.01705	4.68	2.98	2.05	0.26809	.	.	.	.	.	T	0.00637	0.0021	L	0.54323	1.7	0.09310	N	1	P	0.43094	0.799	B	0.36464	0.225	T	0.44050	-0.9353	9	0.14252	T	0.57	.	5.2509	0.15521	0.1614:0.0:0.8386:0.0	.	1299	P20930	FILA_HUMAN	G	1299	ENSP00000357789:R1299G	ENSP00000357789:R1299G	R	-	1	2	FLG	150550091	0.005000	0.15991	0.002000	0.10522	0.023000	0.10783	1.776000	0.38594	1.670000	0.50864	0.299000	0.19835	CGG		0.552	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		C	152283467	G	C	152283467	3	2	699	1	0	0	0	0	1	0	0	0	5924	1057	37	4	8294	4	FLG	1	152283467	Missense_Mutation	SNP	G	TCGA-KL-8330-01A-11D-2310-10	31821256	152283467	96967154	5	38810											
AQP10	89872	mdanderson.org	37	1	154294464	154294464	+	Missense_Mutation	SNP	A	A	G	rs201824170	byFrequency	TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr1:154294464A>G	ENST00000324978.3	+	2	201	c.161A>G	c.(160-162)aAc>aGc	p.N54S	AQP10_ENST00000355197.4_Intron|AQP10_ENST00000484864.1_Missense_Mutation_p.N54S	NM_080429.2	NP_536354.2	Q96PS8	AQP10_HUMAN	aquaporin 10	54					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)			ACCAAAGGCAACTTCTTCACC	0.572																																																0													71	60	64					1																	154294464		2202	4279	6481	SO:0001583	missense	89872			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.161A>G	1.37:g.154294464A>G	ENSP00000318355:p.Asn54Ser		Q5VYD3|Q5VYD4|Q8NG70	Missense_Mutation	SNP	ENST00000324978.3	37	CCDS1065.1	.	.	.	.	.	.	.	.	.	.	A	13.19	2.164492	0.38217	.	.	ENSG00000143595	ENST00000324978;ENST00000484864	T;T	0.10860	2.83;2.83	5.1	5.1	0.69264	Aquaporin-like (2);	0.222920	0.46145	D	0.000305	T	0.04952	0.0133	L	0.28556	0.865	0.33946	D	0.643832	B;P	0.48162	0.04;0.906	B;P	0.49085	0.032;0.6	T	0.22347	-1.0219	10	0.08837	T	0.75	.	13.834	0.63398	1.0:0.0:0.0:0.0	.	54;54	Q96PS8-2;Q96PS8	.;AQP10_HUMAN	S	54	ENSP00000318355:N54S;ENSP00000420341:N54S	ENSP00000318355:N54S	N	+	2	0	AQP10	152561088	0.994000	0.37717	1.000000	0.80357	0.994000	0.84299	5.326000	0.65875	2.142000	0.66516	0.418000	0.28097	AAC		0.572	AQP10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087661.1	NM_080429		G	154294464	A	G	154294464	3	3	699	1	0	0	0	0	1	0	0	0	822	43	2	3	167	3	AQP10	1	154294464	Missense_Mutation	SNP	A	TCGA-KL-8330-01A-11D-2310-10	2010997	154294464	94956157	6	38811	307	2									
AQP10	89872	mdanderson.org	37	1	154294471	154294471	+	Silent	SNP	C	C	T	rs200279756	byFrequency	TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr1:154294471C>T	ENST00000324978.3	+	2	208	c.168C>T	c.(166-168)ttC>ttT	p.F56F	AQP10_ENST00000355197.4_Intron|AQP10_ENST00000484864.1_Silent_p.F56F	NM_080429.2	NP_536354.2	Q96PS8	AQP10_HUMAN	aquaporin 10	56					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)			GCAACTTCTTCACCATGTTTC	0.577																																																0													70	59	63					1																	154294471		2202	4278	6480	SO:0001819	synonymous_variant	89872			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.168C>T	1.37:g.154294471C>T			Q5VYD3|Q5VYD4|Q8NG70	Silent	SNP	ENST00000324978.3	37	CCDS1065.1																																																																																				0.577	AQP10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087661.1	NM_080429		T	154294471	C	T	154294471	2	4	699	1	0	0	0	0	0	0	0	1	822	825	29	2		2	AQP10	1	154294471	Silent	SNP	C	TCGA-KL-8330-01A-11D-2310-10	7	154294471	94956150	7	38812	307	2									
FMN2	56776	mdanderson.org	37	1	240371328	240371328	+	Silent	SNP	G	G	A	rs71646895	byFrequency	TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr1:240371328G>A	ENST00000319653.9	+	5	3446	c.3216G>A	c.(3214-3216)gcG>gcA	p.A1072A		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1072	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)			TACCCGGAGCGGGCATACCCC	0.736																																																0													2	3	3					1																	240371328		1326	2694	4020	SO:0001819	synonymous_variant	56776			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3216G>A	1.37:g.240371328G>A			B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	CCDS31069.2																																																																																				0.736	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		A	240371328	G	A	240371328	2	1	699	1	0	0	0	0	0	0	0	1	5952	1103	39	1		1	FMN2	1	240371328	Silent	SNP	G	TCGA-KL-8330-01A-11D-2310-10	86076857	240371328	8879293	8	38813											
PPM1G	5496	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	27607890	27607890	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr2:27607890G>A	ENST00000344034.4	-	5	739	c.475C>T	c.(475-477)Cgc>Tgc	p.R159C	PPM1G_ENST00000350803.4_Missense_Mutation_p.R159C	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1G	159					cell cycle arrest (GO:0007050)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					TGCCCGTAGCGTGTCAGCAGC	0.597																																																0													143	144	144					2																	27607890		2203	4300	6503	SO:0001583	missense	5496			Y13936	CCDS1752.1	2p23.3	2012-04-17	2010-03-05		ENSG00000115241	ENSG00000115241	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	9278	protein-coding gene	gene with protein product	"PP2C, gamma", "protein phosphatase 2C, gamma isoform"	605119	"protein phosphatase 1G (formerly 2C), magnesium-dependent, gamma isoform"			9276438	Standard	NM_177983		Approved	PP2CG, PP2Cgamma	uc002rkl.4	O15355	OTTHUMG00000097788	ENST00000344034.4:c.475C>T	2.37:g.27607890G>A	ENSP00000342778:p.Arg159Cys			Missense_Mutation	SNP	ENST00000344034.4	37	CCDS1752.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.398817	0.83120	.	.	ENSG00000115241	ENST00000344034;ENST00000350803;ENST00000544412;ENST00000395543	T;T	0.54279	0.58;0.58	5.75	5.75	0.90469	Protein phosphatase 2C-like (3);	0.000000	0.85682	D	0.000000	T	0.71451	0.3341	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.985;0.99	T	0.72792	-0.4186	10	0.87932	D	0	-7.4083	18.4871	0.90833	0.0:0.0:1.0:0.0	.	29;159	Q59GB2;O15355	.;PPM1G_HUMAN	C	159;159;142;29	ENSP00000342778:R159C;ENSP00000264714:R159C	ENSP00000342778:R159C	R	-	1	0	PPM1G	27461394	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.309000	0.72825	2.728000	0.93425	0.655000	0.94253	CGC		0.597	PPM1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215032.1	NM_002707		A	27607890	G	A	27607890	3	1	699	1	0	0	0	0	1	0	0	0	12345	1145	40	1	1189	1	PPM1G	2	27607890	Missense_Mutation	SNP	G	TCGA-KL-8330-01A-11D-2310-10		27607890	215591483	9	38814											
TIA1	7072	bcgsc.ca	37	2	70463215	70463215	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr2:70463215A>G	ENST00000433529.2	-	2	329	c.119T>C	c.(118-120)aTg>aCg	p.M40T	TIA1_ENST00000282574.4_Missense_Mutation_p.M40T|TIA1_ENST00000415783.2_Missense_Mutation_p.M40T|TIA1_ENST00000445587.1_Missense_Mutation_p.M40T|C2orf42_ENST00000470096.1_Intron|TIA1_ENST00000416149.2_Missense_Mutation_p.M40T	NM_022173.2	NP_071505.2	P31483	TIA1_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein	40	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				apoptotic process (GO:0006915)|negative regulation of cytokine biosynthetic process (GO:0042036)|negative regulation of translation (GO:0017148)|regulation of mRNA splicing, via spliceosome (GO:0048024)	cytoplasmic stress granule (GO:0010494)|nuclear stress granule (GO:0097165)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	17						CCTTACATCCATAATCATTTT	0.338																																																0													72	73	72					2																	70463215		2203	4300	6503	SO:0001583	missense	7072				CCDS1900.1, CCDS1901.1	2p13	2013-02-12	2001-11-28		ENSG00000116001	ENSG00000116001		"RNA binding motif (RRM) containing"	11802	protein-coding gene	gene with protein product	"T-cell-restricted intracellular antigen-1", "nucleolysin TIA-1 isoform p40"	603518	"TIA1 cytotoxic granule-associated RNA-binding protein"			8176212, 12486009	Standard	NM_022173		Approved		uc002sgj.4	P31483	OTTHUMG00000129644	ENST00000433529.2:c.119T>C	2.37:g.70463215A>G	ENSP00000401371:p.Met40Thr		Q53SS9	Missense_Mutation	SNP	ENST00000433529.2	37	CCDS1901.1	.	.	.	.	.	.	.	.	.	.	A	9.479	1.097619	0.20552	.	.	ENSG00000116001	ENST00000433529;ENST00000415783;ENST00000477807;ENST00000282574;ENST00000445587;ENST00000416149	T;T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74;-0.74	5.21	5.21	0.72293	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.048795	0.85682	D	0.000000	T	0.53433	0.1796	N	0.05306	-0.075	0.80722	D	1	B;B;B;B	0.10296	0.003;0.001;0.0;0.0	B;B;B;B	0.09377	0.004;0.001;0.004;0.0	T	0.50759	-0.8790	10	0.20046	T	0.44	-11.1683	14.1969	0.65677	1.0:0.0:0.0:0.0	.	40;78;40;40	B4E0E5;Q59G98;P31483-2;P31483	.;.;.;TIA1_HUMAN	T	40;40;78;40;40;40	ENSP00000401371:M40T;ENSP00000404023:M40T;ENSP00000282574:M40T;ENSP00000399567:M40T;ENSP00000413751:M40T	ENSP00000282574:M40T	M	-	2	0	TIA1	70316719	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.636000	0.46545	2.097000	0.63578	0.454000	0.30748	ATG		0.338	TIA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251842.2	NM_022037		G	70463215	A	G	70463215	3	3	699	1	0	0	0	0	1	0	0	0	15892	217	8	3	1089	3	TIA1	2	70463215	Missense_Mutation	SNP	A	TCGA-KL-8330-01A-11D-2310-10	42855325	70463215	172736158	10	38815											
ATP6V1B1	525	broad.mit.edu;mdanderson.org;bcgsc.ca	37	2	71192114	71192114	+	Missense_Mutation	SNP	G	G	A	rs140980255		TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr2:71192114G>A	ENST00000234396.4	+	14	1478	c.1405G>A	c.(1405-1407)Gag>Aag	p.E469K	AC007040.11_ENST00000606025.1_Intron|ATP6V1B1_ENST00000412314.1_Missense_Mutation_p.E452K|RN7SL160P_ENST00000468558.2_RNA	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	469					ATP hydrolysis coupled proton transport (GO:0015991)|ATP metabolic process (GO:0046034)|calcium ion homeostasis (GO:0055074)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|pH reduction (GO:0045851)|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 plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances (GO:0016820)			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						CTCGGTGTTCGAGTCGCTGGA	0.617											OREG0014686	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0								G	LYS/GLU	0,4406		0,0,2203	47	48	48		1405	3.8	1	2	dbSNP_134	48	1,8599	1.2+/-3.3	0,1,4299	no	missense	ATP6V1B1	NM_001692.3	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	469/514	71192114	1,13005	2203	4300	6503	SO:0001583	missense	525			AF107466	CCDS1912.1	2p13	2010-04-21	2008-07-31	2002-05-10	ENSG00000116039	ENSG00000116039	3.6.3.14	"ATPases / V-type"	853	protein-coding gene	gene with protein product	"Renal tubular acidosis with deafness"	192132	"vacuolar proton pump 3"	VPP3, ATP6B1		9916796, 2527371	Standard	XM_005264368		Approved	VATB, RTA1B, Vma2	uc002shj.3	P15313	OTTHUMG00000129711	ENST00000234396.4:c.1405G>A	2.37:g.71192114G>A	ENSP00000234396:p.Glu469Lys	1128	Q53FY0|Q6P4H6	Missense_Mutation	SNP	ENST00000234396.4	37	CCDS1912.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.448704	0.84101	0.0	1.16E-4	ENSG00000116039	ENST00000234396;ENST00000483246;ENST00000412314;ENST00000433895	T;T;T	0.77098	-1.07;-1.07;-1.07	3.81	3.81	0.43845	ATPase, F1/V1/A1 complex, alpha/beta subunit, C-terminal (1);	0.000000	0.52532	D	0.000064	T	0.76737	0.4029	M	0.81942	2.565	0.58432	D	0.999999	P;B;B	0.45212	0.853;0.067;0.141	B;B;B	0.38428	0.273;0.074;0.14	T	0.81990	-0.0679	10	0.62326	D	0.03	-34.01	13.2521	0.60057	0.0:0.0:1.0:0.0	.	444;452;469	B4DWH7;C9JL73;P15313	.;.;VATB1_HUMAN	K	469;444;452;74	ENSP00000234396:E469K;ENSP00000388353:E452K;ENSP00000407840:E74K	ENSP00000234396:E469K	E	+	1	0	ATP6V1B1	71045622	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.657000	0.98554	1.958000	0.56883	0.455000	0.32223	GAG		0.617	ATP6V1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251920.2	NM_001692		A	71192114	G	A	71192114	3	1	699	1	0	0	0	0	1	0	0	0	1178	1059	37	1	1459	1	ATP6V1B1	2	71192114	Missense_Mutation	SNP	G	TCGA-KL-8330-01A-11D-2310-10	728899	71192114	172007259	11	38816											
DUSP11	8446	ucsc.edu;bcgsc.ca	37	2	73996401	73996401	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr2:73996401A>G	ENST00000272444.3	-	5	667	c.626T>C	c.(625-627)cTc>cCc	p.L209P	DUSP11_ENST00000443070.1_Missense_Mutation_p.L209P|DUSP11_ENST00000377706.4_Missense_Mutation_p.L162P|DUSP11_ENST00000480948.1_5'UTR	NM_003584.2	NP_003575.2	O75319	DUS11_HUMAN	dual specificity phosphatase 11 (RNA/RNP complex 1-interacting)	162					peptidyl-tyrosine dephosphorylation (GO:0035335)|polynucleotide 5' dephosphorylation (GO:0098507)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide phosphatase activity, acting on free nucleotides (GO:0098519)|phosphatase activity (GO:0016791)|poly(A) RNA binding (GO:0044822)|polynucleotide 5'-phosphatase activity (GO:0004651)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|skin(1)	12						CCTGCAAATGAGGTAGCCAGT	0.358																																																0													98	99	99					2																	73996401		2203	4300	6503	SO:0001583	missense	8446			AF023917	CCDS1928.2	2p13.1	2011-06-09			ENSG00000144048	ENSG00000144048		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	3066	protein-coding gene	gene with protein product		603092				9685386	Standard	NM_003584		Approved	PIR1	uc002sjp.3	O75319	OTTHUMG00000129816	ENST00000272444.3:c.626T>C	2.37:g.73996401A>G	ENSP00000272444:p.Leu209Pro		B2RCT8|Q6AI47|Q9BWE3	Missense_Mutation	SNP	ENST00000272444.3	37	CCDS1928.2	.	.	.	.	.	.	.	.	.	.	A	16.31	3.086515	0.55861	.	.	ENSG00000144048	ENST00000272444;ENST00000443070;ENST00000377706	D;D;D	0.90563	-2.69;-2.69;-2.69	4.8	3.63	0.41609	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.95671	0.8592	M	0.92970	3.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	D	0.95180	0.8298	10	0.87932	D	0	-4.4581	9.4108	0.38491	0.8408:0.0:0.0:0.1592	.	209;162	C9JYA6;O75319	.;DUS11_HUMAN	P	209;209;162	ENSP00000272444:L209P;ENSP00000413444:L209P;ENSP00000366935:L162P	ENSP00000272444:L209P	L	-	2	0	DUSP11	73849909	1.000000	0.71417	1.000000	0.80357	0.734000	0.41952	6.789000	0.75110	0.953000	0.37825	0.528000	0.53228	CTC		0.358	DUSP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252047.3			G	73996401	A	G	73996401	3	3	699	1	0	0	0	0	1	0	0	0	4813	304	11	3	527	3	DUSP11	2	73996401	Missense_Mutation	SNP	A	TCGA-KL-8330-01A-11D-2310-10	2804287	73996401	169202972	12	38817											
SCG2	7857	broad.mit.edu;ucsc.edu;mdanderson.org	37	2	224462648	224462648	+	Silent	SNP	C	C	T	rs143843249	byFrequency	TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr2:224462648C>T	ENST00000305409.2	-	2	1585	c.1353G>A	c.(1351-1353)tcG>tcA	p.S451S		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)			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)		TGGGAAAATACGACGTTTTCT	0.488													C|||	2	0.000399361	0.0015	0.0	5008	,	,		19932	0.0		0.0	False		,,,				2504	0.0															0								C		4,4402	8.1+/-20.4	0,4,2199	106	107	107		1353	-2.9	0.5	2	dbSNP_134	107	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SCG2	NM_003469.4		0,5,6498	TT,TC,CC		0.0116,0.0908,0.0384		451/618	224462648	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	7857			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.1353G>A	2.37:g.224462648C>T			A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Silent	SNP	ENST00000305409.2	37	CCDS2457.1																																																																																				0.488	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256870.2	NM_003469		T	224462648	C	T	224462648	2	4	699	1	0	0	0	0	0	0	0	1	13897	523	19	1		1	SCG2	2	224462648	Silent	SNP	C	TCGA-KL-8330-01A-11D-2310-10	150466247	224462648	18736725	13	38818											
ZNF445	353274	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	3	44488434	44488434	+	Missense_Mutation	SNP	G	G	C			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr3:44488434G>C	ENST00000396077.2	-	8	3076	c.2729C>G	c.(2728-2730)aCc>aGc	p.T910S	ZNF445_ENST00000425708.2_Missense_Mutation_p.T910S	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	910					transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		ACTGGAAAGGGTATGTCTCCC	0.483																																																0													102	100	100					3																	44488434		2203	4300	6503	SO:0001583	missense	353274			AY262260	CCDS2713.1	3p21.32	2013-01-09	2003-10-07		ENSG00000185219	ENSG00000185219		"Zinc fingers, C2H2-type", "-", "-", "-"	21018	protein-coding gene	gene with protein product			"zinc finger protein 168"	ZNF168		7814019	Standard	NM_181489		Approved	ZKSCAN15, ZSCAN47	uc003cnf.2	P59923	OTTHUMG00000133042	ENST00000396077.2:c.2729C>G	3.37:g.44488434G>C	ENSP00000379387:p.Thr910Ser		Q3MJD1	Missense_Mutation	SNP	ENST00000396077.2	37	CCDS2713.1	.	.	.	.	.	.	.	.	.	.	G	4.922	0.171299	0.09391	.	.	ENSG00000185219	ENST00000425708;ENST00000396077	T;T	0.49432	0.78;0.78	4.06	4.06	0.47325	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.539313	0.17082	N	0.187728	T	0.22513	0.0543	N	0.05230	-0.09	0.09310	N	1	P;P	0.45176	0.852;0.852	B;B	0.39217	0.294;0.294	T	0.04333	-1.0959	10	0.15499	T	0.54	.	9.5794	0.39479	0.0:0.0:0.6833:0.3167	.	898;910	B7ZKX2;P59923	.;ZN445_HUMAN	S	910	ENSP00000413073:T910S;ENSP00000379387:T910S	ENSP00000379387:T910S	T	-	2	0	ZNF445	44463438	0.000000	0.05858	0.017000	0.16124	0.031000	0.12232	-2.107000	0.01337	2.559000	0.86315	0.563000	0.77884	ACC		0.483	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256647.2	NM_181489		C	44488434	G	C	44488434	3	2	699	1	0	0	0	0	1	0	0	0	17923	1261	44	4	370	4	ZNF445	3	44488434	Missense_Mutation	SNP	G	TCGA-KL-8330-01A-11D-2310-10		44488434	153533996	14	38819											
TMEM108	66000	mdanderson.org	37	3	133098856	133098856	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr3:133098856G>A	ENST00000321871.6	+	4	511	c.301G>A	c.(301-303)Gct>Act	p.A101T	TMEM108_ENST00000393130.3_Missense_Mutation_p.A101T|TMEM108_ENST00000515826.1_Missense_Mutation_p.A101T|TMEM108_ENST00000508711.1_Intron	NM_001136469.1|NM_023943.2	NP_001129941.1|NP_076432.1	Q6UXF1	TM108_HUMAN	transmembrane protein 108	101	Pro-rich.					integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CTCCACCATCGCTGCGACAGT	0.662																																																0													79	66	71					3																	133098856		2203	4299	6502	SO:0001583	missense	66000			AL136578	CCDS33858.1, CCDS75012.1	3q22.1	2014-04-07			ENSG00000144868	ENSG00000144868			28451	protein-coding gene	gene with protein product	"cancer/testis antigen 124"					11214970	Standard	XM_005247726		Approved	MGC3040, CT124	uc003epi.3	Q6UXF1	OTTHUMG00000159685	ENST00000321871.6:c.301G>A	3.37:g.133098856G>A	ENSP00000324651:p.Ala101Thr		D3DNC9|Q9BQH1|Q9BW81|Q9C0H3	Missense_Mutation	SNP	ENST00000321871.6	37	CCDS33858.1	.	.	.	.	.	.	.	.	.	.	g	0.318	-0.963467	0.02249	.	.	ENSG00000144868	ENST00000321871;ENST00000393130;ENST00000514894;ENST00000512662;ENST00000512137;ENST00000515826;ENST00000510183	T;T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9;0.9	2.99	-3.43	0.04810	.	1.088120	0.07306	N	0.874970	T	0.13628	0.0330	N	0.02011	-0.69	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.04013	0.001;0.001	T	0.23762	-1.0179	10	0.13470	T	0.59	0.1393	5.1788	0.15148	0.6526:0.1673:0.1802:0.0	.	101;101	E9PB58;Q6UXF1	.;TM108_HUMAN	T	101;101;52;52;101;101;101	ENSP00000324651:A101T;ENSP00000376838:A101T;ENSP00000422072:A52T;ENSP00000427447:A52T;ENSP00000426301:A101T;ENSP00000423338:A101T;ENSP00000421486:A101T	ENSP00000324651:A101T	A	+	1	0	TMEM108	134581546	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.257000	0.02866	-0.768000	0.04626	-0.230000	0.12252	GCT		0.662	TMEM108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356907.2	NM_023943		A	133098856	G	A	133098856	3	1	699	1	0	0	0	0	1	0	0	0	16029	1087	38	1	307	1	TMEM108	3	133098856	Missense_Mutation	SNP	G	TCGA-KL-8330-01A-11D-2310-10	88610422	133098856	64923574	15	38820											
RBM47	54502	broad.mit.edu;hgsc.bcm.edu	37	4	40438607	40438608	+	Frame_Shift_Ins	INS	-	-	T			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr4:40438607_40438608insT	ENST00000381793.2	-	4	1576_1577	c.1180_1181insA	c.(1180-1182)aggfs	p.R394fs	RBM47_ENST00000515809.1_Intron|RBM47_ENST00000319592.4_Intron|RBM47_ENST00000514014.1_Frame_Shift_Ins_p.R356fs|RBM47_ENST00000295971.7_Frame_Shift_Ins_p.R394fs|RBM47_ENST00000381795.6_Intron			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	394					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						GTAGGAACCCCTAGGCCCTGGG	0.515																																																0																																										SO:0001589	frameshift_variant	54502			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.1181dupA	4.37:g.40438608_40438608dupT	ENSP00000371212:p.Arg394fs		A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Frame_Shift_Ins	INS	ENST00000381793.2	37	CCDS43223.1																																																																																				0.515	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	NM_019027		T	40438608	-	T	40438607	7	5	699	1	0	1	1	0	0	0	0	0	13147	681	24	0	612	0	RBM47	4	40438607	Frame_Shift_Ins	INS	-	TCGA-KL-8330-01A-11D-2310-10		40438607	150715669	16	38821	308	2									
RBM47	54502	bcgsc.ca	37	4	40438608	40438609	+	Frame_Shift_Ins	INS	-	-	T			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr4:40438608_40438609insT	ENST00000381793.2	-	4	1575_1576	c.1179_1180insA	c.(1177-1182)cctaggfs	p.R394fs	RBM47_ENST00000515809.1_Intron|RBM47_ENST00000319592.4_Intron|RBM47_ENST00000514014.1_Frame_Shift_Ins_p.R356fs|RBM47_ENST00000295971.7_Frame_Shift_Ins_p.R394fs|RBM47_ENST00000381795.6_Intron			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	394					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						TAGGAACCCCTAGGCCCTGGGG	0.515																																																0																																										SO:0001589	frameshift_variant	54502			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.1179dupA	4.37:g.40438608_40438608dupT	ENSP00000371212:p.Arg394fs		A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Frame_Shift_Ins	INS	ENST00000381793.2	37	CCDS43223.1																																																																																				0.515	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	NM_019027		T	40438609	-	T	40438608	7	5	699	1	0	1	1	0	0	0	0	0	13147	1521	53	0	613	0	RBM47	4	40438608	Frame_Shift_Ins	INS	-	TCGA-KL-8330-01A-11D-2310-10	1	40438608	150715668	17	38822	308	2									
UGT2B7	7364	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	4	69978239	69978239	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr4:69978239C>T	ENST00000305231.7	+	6	1421	c.1375C>T	c.(1375-1377)Cga>Tga	p.R459*	UGT2B7_ENST00000508661.1_3'UTR|UGT2B7_ENST00000509763.1_3'UTR	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	459					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)	GCCCCTGGATCGAGCAGTCTT	0.423																																																0													109	111	111					4																	69978239		2203	4297	6500	SO:0001587	stop_gained	7364			BC030974	CCDS3526.1	4q13	2008-02-05	2005-07-20		ENSG00000171234	ENSG00000171234		"UDP glucuronosyltransferases"	12554	protein-coding gene	gene with protein product		600068	"UDP glycosyltransferase 2 family, polypeptide B7"			2159463, 7835904	Standard	NM_001074		Approved	UGT2B9	uc003heg.4	P16662	OTTHUMG00000129404	ENST00000305231.7:c.1375C>T	4.37:g.69978239C>T	ENSP00000304811:p.Arg459*		B2R810|Q6GTW0	Nonsense_Mutation	SNP	ENST00000305231.7	37	CCDS3526.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.295865	0.60086	.	.	ENSG00000171234	ENST00000305231	.	.	.	2.13	0.0314	0.14171	.	0.339461	0.24645	U	0.036762	.	.	.	.	.	.	0.26224	N	0.979115	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7846	0.29085	0.6381:0.3619:0.0:0.0	.	.	.	.	X	459	.	.	R	+	1	2	UGT2B7	70012828	0.842000	0.29525	0.479000	0.27329	0.846000	0.48090	0.072000	0.14617	-0.197000	0.10350	0.306000	0.20318	CGA		0.423	UGT2B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251560.1	NM_001074		T	69978239	C	T	69978239	4	4	699	1	0	0	0	0	0	1	0	0	16967	876	31	1	1397	1	UGT2B7	4	69978239	Nonsense_Mutation	SNP	C	TCGA-KL-8330-01A-11D-2310-10	29539631	69978239	121176037	18	38823											
RUFY3	22902	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	4	71588442	71588442	+	Missense_Mutation	SNP	C	C	A			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr4:71588442C>A	ENST00000226328.4	+	1	715	c.152C>A	c.(151-153)aCa>aAa	p.T51K	RUFY3_ENST00000381006.3_Missense_Mutation_p.T51K|RUFY3_ENST00000417478.2_Intron|RUFY3_ENST00000536664.1_Missense_Mutation_p.T17K	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	51					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)			ATCTCACTTACACCTGACCCA	0.532																																																0													166	136	146					4																	71588442		2203	4300	6503	SO:0001583	missense	22902			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	ENST00000226328.4:c.152C>A	4.37:g.71588442C>A	ENSP00000226328:p.Thr51Lys		B3KM25|B4DYW7|D9N163|O94948|Q9UI00	Missense_Mutation	SNP	ENST00000226328.4	37	CCDS3547.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.755538	0.89843	.	.	ENSG00000018189	ENST00000381006;ENST00000226328;ENST00000536664	T;T;T	0.11821	3.11;2.74;2.77	5.51	5.51	0.81932	.	0.806005	0.11213	N	0.587473	T	0.26195	0.0639	N	0.14661	0.345	0.58432	D	0.999998	D;D;D	0.76494	0.982;0.999;0.981	D;D;D	0.80764	0.939;0.994;0.95	T	0.29150	-1.0021	10	0.56958	D	0.05	-2.8095	19.4131	0.94683	0.0:1.0:0.0:0.0	.	17;51;51	B4DKC2;Q7L099-3;Q7L099	.;.;RUFY3_HUMAN	K	51;51;17	ENSP00000370394:T51K;ENSP00000226328:T51K;ENSP00000443652:T17K	ENSP00000226328:T51K	T	+	2	0	RUFY3	71807306	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	7.487000	0.81328	2.590000	0.87494	0.555000	0.69702	ACA		0.532	RUFY3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252161.2	NM_014961		A	71588442	C	A	71588442	3	1	699	1	0	0	0	0	1	0	0	0	13746	478	17	4	516	4	RUFY3	4	71588442	Missense_Mutation	SNP	C	TCGA-KL-8330-01A-11D-2310-10	1610203	71588442	119565834	19	38824											
AGPAT9	84803	broad.mit.edu	37	4	84518658	84518658	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr4:84518658T>C	ENST00000395226.2	+	10	1204	c.986T>C	c.(985-987)gTt>gCt	p.V329A	AGPAT9_ENST00000264409.4_Missense_Mutation_p.V329A	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	329					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)				ATACATCCAGTTGCAATTAAG	0.333																																																0													54	56	55					4																	84518658		2203	4300	6503	SO:0001583	missense	84803			AK055749	CCDS3606.1	4q21.23	2014-02-13	2008-01-29		ENSG00000138678	ENSG00000138678	2.3.1.15	"1-acylglycerol-3-phosphate O-acyltransferases"	28157	protein-coding gene	gene with protein product	"lysophosphatidic acid acyltransferase, theta"	610958	"1-acylglycerol-3-phosphate O-acyltransferase 9 (lysophosphatidic acid acyltransferase, theta)"			12975309	Standard	NM_001256421		Approved	MGC11324, LPAAT-theta, MAG1, HMFN0839	uc003how.4	Q53EU6	OTTHUMG00000130431	ENST00000395226.2:c.986T>C	4.37:g.84518658T>C	ENSP00000378651:p.Val329Ala		Q68CJ4|Q6GPI6|Q96NA3	Missense_Mutation	SNP	ENST00000395226.2	37	CCDS3606.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.103293	0.76983	.	.	ENSG00000138678	ENST00000395226;ENST00000264409	D;D	0.96011	-3.88;-3.88	5.32	5.32	0.75619	Phospholipid/glycerol acyltransferase (2);	0.000000	0.85682	D	0.000000	D	0.97554	0.9199	M	0.80183	2.485	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.98221	1.0478	10	0.66056	D	0.02	-20.1272	15.2947	0.73894	0.0:0.0:0.0:1.0	.	329	Q53EU6	GPAT3_HUMAN	A	329	ENSP00000378651:V329A;ENSP00000264409:V329A	ENSP00000264409:V329A	V	+	2	0	AGPAT9	84737682	1.000000	0.71417	0.993000	0.49108	0.830000	0.47004	7.958000	0.87877	2.005000	0.58758	0.460000	0.39030	GTT		0.333	AGPAT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252821.3	NM_032717		C	84518658	T	C	84518658	3	2	699	1	0	0	0	0	1	0	0	0	392	1725	60	3	1020	3	AGPAT9	4	84518658	Missense_Mutation	SNP	T	TCGA-KL-8330-01A-11D-2310-10	12930216	84518658	106635618	20	38825											
NHEDC1	150159	mdanderson.org	37	4	103826757	103826757	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr4:103826757T>C	ENST00000296422.7	-	11	1387	c.1246A>G	c.(1246-1248)Aca>Gca	p.T416A	SLC9B1_ENST00000512651.2_Intron|SLC9B1_ENST00000394789.3_Missense_Mutation_p.T416A	NM_139173.3	NP_631912	Q4ZJI4	SL9B1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	416					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)										AATAGATATGTGGTTAAAATT	0.323																																																0													39	43	42					4																	103826757		2198	4292	6490	SO:0001583	missense	150159			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.1246A>G	4.37:g.103826757T>C	ENSP00000296422:p.Thr416Ala		A1KXV1|B9EH04|C9JBP7|Q49A30|Q8NCV2|Q8WVZ0	Missense_Mutation	SNP	ENST00000296422.7	37	CCDS34041.1	.	.	.	.	.	.	.	.	.	.	T	5.018	0.188936	0.09547	.	.	ENSG00000164037	ENST00000394789;ENST00000296422	T;T	0.13657	2.57;2.57	3.47	2.27	0.28462	.	0.060197	0.64402	N	0.000003	T	0.04407	0.0121	N	0.01048	-1.04	0.34123	D	0.664367	B;B;B	0.28350	0.123;0.208;0.025	B;B;B	0.37304	0.076;0.246;0.108	T	0.28713	-1.0035	10	0.25106	T	0.35	-18.6579	3.8532	0.08963	0.1863:0.1077:0.0:0.7059	.	184;416;416	Q4ZJI4-2;Q4ZJI4;Q4ZJI4-3	.;SL9B1_HUMAN;.	A	416	ENSP00000378269:T416A;ENSP00000296422:T416A	ENSP00000296422:T416A	T	-	1	0	SLC9B1	104046206	1.000000	0.71417	0.206000	0.23566	0.010000	0.07245	3.032000	0.49736	0.514000	0.28300	0.397000	0.26171	ACA		0.323	SLC9B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363841.1	NM_139173		C	103826757	T	C	103826757	3	2	699	1	0	0	0	0	1	0	0	0	10402	1696	59	3	409	3	NHEDC1	4	103826757	Missense_Mutation	SNP	T	TCGA-KL-8330-01A-11D-2310-10	19308099	103826757	87327519	21	38826											
LARP7	51574	broad.mit.edu	37	4	113568911	113568911	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr4:113568911A>G	ENST00000344442.5	+	8	1341	c.1063A>G	c.(1063-1065)Aca>Gca	p.T355A	MIR302A_ENST00000385192.1_RNA|MIR302B_ENST00000362188.1_RNA|MIR302D_ENST00000362275.1_RNA|MIR302B_ENST00000509938.1_RNA|LARP7_ENST00000324052.6_Missense_Mutation_p.T355A|MIR367_ENST00000362299.1_RNA|MIR302C_ENST00000362232.1_RNA|LARP7_ENST00000509061.1_Missense_Mutation_p.T362A|MIR302B_ENST00000505215.1_RNA|MIR302B_ENST00000510655.1_RNA	NM_016648.3	NP_057732.2	Q4G0J3	LARP7_HUMAN	La ribonucleoprotein domain family, member 7	355	Lys-rich.				RNA processing (GO:0006396)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	17		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		TCTCTTGAAAACAAAAAGGAA	0.308																																																0													32	34	33					4																	113568911		2201	4294	6495	SO:0001583	missense	51574			AF068284	CCDS3701.2, CCDS58924.1	4q25	2013-02-12			ENSG00000174720	ENSG00000174720		"La ribonucleoprotein domain containing", "RNA binding motif (RRM) containing"	24912	protein-coding gene	gene with protein product	"P-TEFb-interaction protein for 7SK stability"	612026				18191186, 18249148, 18281698, 22865833, 22488152	Standard	NM_016648		Approved	HDCMA18P, PIP7S, DKFZP564K112	uc003ibb.4	Q4G0J3	OTTHUMG00000132909	ENST00000344442.5:c.1063A>G	4.37:g.113568911A>G	ENSP00000344950:p.Thr355Ala		B2ZHN6|Q3B7A9|Q9P1S7|Q9Y3Z8	Missense_Mutation	SNP	ENST00000344442.5	37	CCDS3701.2	.	.	.	.	.	.	.	.	.	.	A	5.077	0.199948	0.09652	.	.	ENSG00000174720	ENST00000344442;ENST00000509061;ENST00000513553;ENST00000324052	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.89	-4.82	0.03171	.	0.593004	0.18744	N	0.132376	T	0.08935	0.0221	N	0.00972	-1.085	0.20764	N	0.999853	B	0.02656	0.0	B	0.01281	0.0	T	0.35549	-0.9784	10	0.02654	T	1	-9.5667	6.2703	0.20951	0.2366:0.0:0.3856:0.3779	.	355	Q4G0J3	LARP7_HUMAN	A	355;362;23;355	ENSP00000344950:T355A;ENSP00000422626:T362A;ENSP00000422013:T23A;ENSP00000314311:T355A	ENSP00000314311:T355A	T	+	1	0	LARP7	113788360	0.729000	0.28090	0.041000	0.18516	0.910000	0.53928	0.480000	0.22244	-0.602000	0.05775	0.533000	0.62120	ACA		0.308	LARP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256417.2	NM_016648		G	113568911	A	G	113568911	3	3	699	1	0	0	0	0	1	0	0	0	8635	43	2	3	1089	3	LARP7	4	113568911	Missense_Mutation	SNP	A	TCGA-KL-8330-01A-11D-2310-10	9742154	113568911	77585365	22	38827											
ANK2	287	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	4	114275928	114275928	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr4:114275928C>T	ENST00000357077.4	+	38	6207	c.6154C>T	c.(6154-6156)Cga>Tga	p.R2052*	ANK2_ENST00000264366.6_Nonsense_Mutation_p.R2019*|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2052					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)		GACAATCAAACGAGGCCAGAG	0.468																																																0													70	81	78					4																	114275928		2203	4300	6503	SO:0001587	stop_gained	287			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.6154C>T	4.37:g.114275928C>T	ENSP00000349588:p.Arg2052*		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Nonsense_Mutation	SNP	ENST00000357077.4	37	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	42	9.343468	0.99143	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	.	.	.	5.53	3.77	0.43336	.	0.299436	0.24096	N	0.041583	.	.	.	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.535	0.33357	0.2778:0.6531:0.0:0.0691	.	.	.	.	X	2052;2019	.	.	R	+	1	2	ANK2	114495377	0.938000	0.31826	0.705000	0.30386	0.131000	0.20780	0.989000	0.29629	0.767000	0.33267	-0.311000	0.09066	CGA		0.468	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		T	114275928	C	T	114275928	4	4	699	1	0	0	0	0	0	1	0	0	621	528	19	1	6369	1	ANK2	4	114275928	Nonsense_Mutation	SNP	C	TCGA-KL-8330-01A-11D-2310-10	707017	114275928	76878348	23	38828											
SPEF2	79925	ucsc.edu	37	5	35774017	35774017	+	Silent	SNP	A	A	G			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr5:35774017A>G	ENST00000356031.3	+	28	4126	c.3972A>G	c.(3970-3972)gaA>gaG	p.E1324E	SPEF2_ENST00000440995.2_Silent_p.E1319E|CTD-2113L7.1_ENST00000510433.1_RNA	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1324					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)			CTATGGCAGAAGCAACTCCTG	0.393																																																0													81	73	75					5																	35774017		1853	4092	5945	SO:0001819	synonymous_variant	79925			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.3972A>G	5.37:g.35774017A>G			Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Silent	SNP	ENST00000356031.3	37	CCDS43309.1																																																																																				0.393	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		G	35774017	A	G	35774017	2	3	699	1	0	0	0	0	0	0	0	1	15040	69	3	3		3	SPEF2	5	35774017	Silent	SNP	A	TCGA-KL-8330-01A-11D-2310-10		35774017	145141243	24	38829											
CAMK4	814	bcgsc.ca	37	5	110820081	110820081	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr5:110820081G>A	ENST00000282356.4	+	11	1737	c.1339G>A	c.(1339-1341)Gca>Aca	p.A447T	CAMK4_ENST00000512890.1_3'UTR|CAMK4_ENST00000512453.1_Missense_Mutation_p.A447T	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	447					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|long-term memory (GO:0007616)|myeloid dendritic cell differentiation (GO:0043011)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleocytoplasmic transport (GO:0006913)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of osteoclast differentiation (GO:0045670)|regulation of T cell differentiation in thymus (GO:0033081)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		TGTGGAGGAGGCAGCAGCTCC	0.542																																																0													54	53	54					5																	110820081		2202	4300	6502	SO:0001583	missense	814			D30742	CCDS4103.1	5q22.1	2012-09-20			ENSG00000152495	ENSG00000152495	2.7.11.17		1464	protein-coding gene	gene with protein product	"brain Ca++-calmodulin-dependent protein kinase type IV", "calcium/calmodulin-dependent protein kinase type IV catalytic chain", "CAM kinase IV", "CAM kinase- GR"	114080				2536634	Standard	NM_001744		Approved	CaMK-GR	uc003kpf.3	Q16566	OTTHUMG00000128792	ENST00000282356.4:c.1339G>A	5.37:g.110820081G>A	ENSP00000282356:p.Ala447Thr		D3DSZ7	Missense_Mutation	SNP	ENST00000282356.4	37	CCDS4103.1	.	.	.	.	.	.	.	.	.	.	G	12.82	2.052040	0.36181	.	.	ENSG00000152495	ENST00000512453;ENST00000282356	T;T	0.68025	-0.3;-0.3	4.84	-0.624	0.11552	.	0.774566	0.10590	N	0.656924	T	0.43743	0.1261	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.34354	-0.9832	10	0.66056	D	0.02	.	4.2987	0.10915	0.0911:0.4521:0.3025:0.1544	.	447	Q16566	KCC4_HUMAN	T	447	ENSP00000422634:A447T;ENSP00000282356:A447T	ENSP00000282356:A447T	A	+	1	0	CAMK4	110847980	0.021000	0.18746	0.006000	0.13384	0.041000	0.13682	0.406000	0.21032	0.204000	0.20548	0.585000	0.79938	GCA		0.542	CAMK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250719.2	NM_001744		A	110820081	G	A	110820081	3	1	699	1	0	0	0	0	1	0	0	0	2607	1203	42	2	1381	2	CAMK4	5	110820081	Missense_Mutation	SNP	G	TCGA-KL-8330-01A-11D-2310-10	75046064	110820081	70095179	25	38830											
SRFBP1	153443	ucsc.edu	37	5	121309892	121309892	+	Splice_Site	SNP	T	T	C			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr5:121309892T>C	ENST00000339397.4	+	2	110	c.38T>C	c.(37-39)gTt>gCt	p.V13A		NM_152546.2	NP_689759.2			serum response factor binding protein 1											central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		TCTTCAAAGGTTGTGAAGATG	0.333																																																0													67	63	64					5																	121309892		1820	4072	5892	SO:0001630	splice_region_variant	153443			AK058015	CCDS43354.1	5q23.1	2006-12-21				ENSG00000151304			26333	protein-coding gene	gene with protein product	"BUD22 homolog (S. cerevisiae)"	610479				15492011	Standard	NM_152546		Approved	FLJ25286, p49, STRAP, BUD22, Rlb1	uc003kst.1	Q8NEF9		ENST00000339397.4:c.37-1T>C	5.37:g.121309892T>C				Missense_Mutation	SNP	ENST00000339397.4	37	CCDS43354.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.095015	0.76870	.	.	ENSG00000151304	ENST00000339397	.	.	.	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.77025	0.4070	M	0.77103	2.36	0.53688	D	0.999974	D	0.67145	0.996	P	0.59948	0.866	T	0.80405	-0.1396	9	0.87932	D	0	-16.2291	14.9786	0.71296	0.0:0.0:0.0:1.0	.	13	Q8NEF9	SRFB1_HUMAN	A	13	.	ENSP00000341324:V13A	V	+	2	0	SRFBP1	121337791	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	5.385000	0.66231	2.275000	0.75901	0.528000	0.53228	GTT		0.333	SRFBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371200.1	NM_152546	Missense_Mutation	C	121309892	T	C	121309892	5	2	699	1	0	0	0	0	0	0	1	0	15149	1739	60	3	44	3	SRFBP1	5	121309892	Splice_Site	SNP	T	TCGA-KL-8330-01A-11D-2310-10	10489811	121309892	59605368	26	38831											
PCDHGC3	5098	broad.mit.edu;ucsc.edu;mdanderson.org	37	5	140857474	140857474	+	Silent	SNP	C	C	T			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr5:140857474C>T	ENST00000308177.3	+	1	1895	c.1791C>T	c.(1789-1791)gaC>gaT	p.D597D	PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|RN7SL68P_ENST00000488078.2_RNA|PCDHGB7_ENST00000398594.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000518882.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	597	Cadherin 6. {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)			TAGGCTGGGACGCGGATGCAG	0.602											OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													50	55	53					5																	140857474		2203	4300	6503	SO:0001819	synonymous_variant	5098			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.1791C>T	5.37:g.140857474C>T		1659	O60622|Q08192|Q9Y5C4	Silent	SNP	ENST00000308177.3	37	CCDS4261.1																																																																																				0.602	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251808.2	NM_002588		T	140857474	C	T	140857474	2	4	699	1	0	0	0	0	0	0	0	1	11571	535	19	1		1	PCDHGC3	5	140857474	Silent	SNP	C	TCGA-KL-8330-01A-11D-2310-10	19547582	140857474	40057786	27	38832											
FAM8A1	51439	mdanderson.org	37	6	17608519	17608519	+	Silent	SNP	T	T	C			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr6:17608519T>C	ENST00000259963.3	+	5	1246	c.1191T>C	c.(1189-1191)gcT>gcC	p.A397A		NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	397	RDD.					integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			ATCGAACAGCTTATGACATTG	0.383																																																0													100	95	97					6																	17608519		2203	4300	6503	SO:0001819	synonymous_variant	51439			AF097027	CCDS4540.1	6p23	2010-11-22			ENSG00000137414	ENSG00000137414			16372	protein-coding gene	gene with protein product						11707071	Standard	NM_016255		Approved	AHCP	uc003ncc.3	Q9UBU6	OTTHUMG00000014309	ENST00000259963.3:c.1191T>C	6.37:g.17608519T>C			B2R725	Silent	SNP	ENST00000259963.3	37	CCDS4540.1																																																																																				0.383	FAM8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039950.1			C	17608519	T	C	17608519	2	2	699	1	0	0	0	0	0	0	0	1	5651	1596	56	3		3	FAM8A1	6	17608519	Silent	SNP	T	TCGA-KL-8330-01A-11D-2310-10		17608519	153506548	28	38833											
HLA-C	3107	mdanderson.org	37	6	31238970	31238970	+	Missense_Mutation	SNP	T	T	A	rs281860499|rs142570222	byFrequency	TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr6:31238970T>A	ENST00000376228.5	-	3	513	c.499A>T	c.(499-501)Acc>Tcc	p.T167S	HLA-C_ENST00000383329.3_Missense_Mutation_p.T167S	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	167	Alpha-2.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						TTGCGCTGGGTGATCTGAGCC	0.672													t|||	168	0.0335463	0.0809	0.0202	5008	,	,		10400	0.0188		0.0199	False		,,,				2504	0.0082															0													29	20	23					6																	31238970		2137	4174	6311	SO:0001583	missense	3107			M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4933	protein-coding gene	gene with protein product		142840	"psoriasis susceptibility 1"	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.499A>T	6.37:g.31238970T>A	ENSP00000365402:p.Thr167Ser		O02864|O02958|Q29643|Q9MY30	Missense_Mutation	SNP	ENST00000376228.5	37	CCDS34393.1	170|170	0.07783882783882784|0.07783882783882784	55|55	0.11178861788617886|0.11178861788617886	13|13	0.03591160220994475|0.03591160220994475	58|58	0.10139860139860139|0.10139860139860139	44|44	0.05804749340369393|0.05804749340369393	.|.	11.47|11.47	1.647923|1.647923	0.29336|0.29336	.|.	.|.	ENSG00000204525|ENSG00000204525	ENST00000415537|ENST00000376228;ENST00000383329;ENST00000396254;ENST00000539307	.|T;T	.|0.00940	.|5.52;5.52	2.81|2.81	2.81|2.81	0.32909|0.32909	.|MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.|0.377560	.|0.18473	.|U	.|0.140159	T|T	0.00552|0.00552	0.0018|0.0018	L|L	0.55834|0.55834	1.745|1.745	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.18166	.|0.005;0.005;0.003;0.026	.|B;B;B;B	.|0.22753	.|0.03;0.021;0.021;0.041	T|T	0.45220|0.45220	-0.9276|-0.9276	5|10	.|0.87932	.|D	.|0	.|.	9.364|9.364	0.38212|0.38212	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	rs1050367;rs1050668;rs2308587;rs3177938|rs1050367;rs1050668;rs2308587;rs3177938	.|167;167;167;167	.|A2AEA4;A6H578;A2AEA2;P10321	.|.;.;.;1C07_HUMAN	L|S	166|167;167;167;204	.|ENSP00000365402:T167S;ENSP00000372819:T167S	.|ENSP00000365402:T167S	H|T	-|-	2|1	0|0	HLA-C|HLA-C	31346949|31346949	0.745000|0.745000	0.28261|0.28261	0.005000|0.005000	0.12908|0.12908	0.011000|0.011000	0.07611|0.07611	1.002000|1.002000	0.29796|0.29796	1.536000|1.536000	0.49237|0.49237	0.254000|0.254000	0.18369|0.18369	CAC|ACC		0.672	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076281.3	NM_002117		A	31238970	T	A	31238970	3	1	699	1	0	0	0	0	1	0	0	0	7199	1696	59	5	625	5	HLA-C	6	31238970	Missense_Mutation	SNP	T	TCGA-KL-8330-01A-11D-2310-10	13630451	31238970	139876097	29	38834											
DST	667	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	6	56417258	56417258	+	Missense_Mutation	SNP	T	T	A			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr6:56417258T>A	ENST00000361203.3	-	57	15706	c.15699A>T	c.(15697-15699)aaA>aaT	p.K5233N	DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.K3147N|DST_ENST00000370769.4_Missense_Mutation_p.K5235N|DST_ENST00000244364.6_Missense_Mutation_p.K2821N|DST_ENST00000370788.2_Missense_Mutation_p.K3147N|DST_ENST00000370754.5_Missense_Mutation_p.K5413N|DST_ENST00000446842.2_Missense_Mutation_p.K4909N			Q03001	DYST_HUMAN	dystonin	5233					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)			TCTTGCAGGTTTTATTGGCAT	0.418																																																0													70	67	68					6																	56417258		1903	4119	6022	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.15699A>T	6.37:g.56417258T>A	ENSP00000354508:p.Lys5233Asn		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		.	.	.	.	.	.	.	.	.	.	T	13.73	2.322902	0.41096	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27;1.27;1.27	6.17	2.29	0.28610	.	0.207502	0.33290	N	0.005076	T	0.36054	0.0953	M	0.65975	2.015	0.28083	N	0.932106	D;P;D;B;B	0.89917	1.0;0.749;0.965;0.181;0.352	D;P;P;B;B	0.83275	0.996;0.515;0.854;0.036;0.138	T	0.26849	-1.0091	9	0.16896	T	0.51	.	9.5559	0.39339	0.0:0.3696:0.0:0.6304	.	3147;5235;5413;5233;2821	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	N	2821;5413;5235;3147;4909;3147;5233	ENSP00000244364:K2821N;ENSP00000359790:K5413N;ENSP00000359805:K5235N;ENSP00000400883:K3147N;ENSP00000393645:K4909N;ENSP00000359824:K3147N;ENSP00000354508:K5233N	ENSP00000244364:K2821N	K	-	3	2	DST	56525217	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	0.907000	0.28531	0.144000	0.18951	-0.290000	0.09829	AAA		0.418	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		A	56417258	T	A	56417258	3	1	699	1	0	0	0	0	1	0	0	0	4785	1838	64	5	7224	5	DST	6	56417258	Missense_Mutation	SNP	T	TCGA-KL-8330-01A-11D-2310-10	25178288	56417258	114697809	30	38835											
SYNJ2	8871	mdanderson.org	37	6	158507981	158507981	+	Silent	SNP	G	G	A	rs2296506	byFrequency	TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr6:158507981G>A	ENST00000355585.4	+	23	3378	c.3303G>A	c.(3301-3303)cgG>cgA	p.R1101R	SYNJ2_ENST00000367122.2_Intron|SYNJ2_ENST00000367112.1_Silent_p.R186R|SYNJ2_ENST00000367121.3_Silent_p.R1101R	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1101	Pro-rich.				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)		TCCCCAACCGGCCTCGGCCAC	0.652													G|||	2644	0.527955	0.5719	0.3386	5008	,	,		14003	0.5913		0.5099	False		,,,				2504	0.5562															0								G	,	2440,1966	615.6+/-392.6	668,1104,431	40	43	42		2592,3303	4.8	1	6	dbSNP_100	42	4371,4229	576.2+/-390.3	1097,2177,1026	no	coding-synonymous,coding-synonymous	SYNJ2	NM_001178088.1,NM_003898.3	,	1765,3281,1457	AA,AG,GG		49.1744,44.621,47.6319	,	864/1260,1101/1497	158507981	6811,6195	2203	4300	6503	SO:0001819	synonymous_variant	8871			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.3303G>A	6.37:g.158507981G>A			Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Silent	SNP	ENST00000355585.4	37	CCDS5254.1																																																																																				0.652	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2			A	158507981	G	A	158507981	2	1	699	1	0	0	0	0	0	0	0	1	15458	1190	42	2		2	SYNJ2	6	158507981	Silent	SNP	G	TCGA-KL-8330-01A-11D-2310-10	102090723	158507981	12607086	31	38836											
DOCK4	9732	broad.mit.edu;ucsc.edu	37	7	111368593	111368593	+	Missense_Mutation	SNP	C	C	G			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr7:111368593C>G	ENST00000437633.1	-	52	5894	c.5638G>C	c.(5638-5640)Gtg>Ctg	p.V1880L	DOCK4_ENST00000428084.1_Missense_Mutation_p.V1889L|DOCK4_ENST00000494651.2_Missense_Mutation_p.V763L	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1880	Pro-rich.				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)				GGCACCGGCACTGGCACCGGC	0.647																																																0													34	42	39					7																	111368593		2073	4198	6271	SO:0001583	missense	9732				CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.5638G>C	7.37:g.111368593C>G	ENSP00000404179:p.Val1880Leu		O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	CCDS47688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.032|0.032	-1.328806|-1.328806	0.01298|0.01298	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000423057;ENST00000445943|ENST00000352877;ENST00000428084;ENST00000494651;ENST00000437633;ENST00000342288	.|T;T;T	.|0.05513	.|4.16;3.43;4.16	4.59|4.59	1.55|1.55	0.23275|0.23275	.|.	.|0.478701	.|0.18768	.|U	.|0.131682	T|T	0.01523|0.01523	0.0049|0.0049	N|N	0.00538|0.00538	-1.39|-1.39	0.09310|0.09310	N|N	1|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|T	0.47649|0.47649	-0.9101|-0.9101	5|10	.|0.10902	.|T	.|0.67	.|.	6.9688|6.9688	0.24637|0.24637	0.0:0.4797:0.4192:0.101|0.0:0.4797:0.4192:0.101	.|.	.|749;763;1925;1880;1851;193	.|B7Z2K9;F5GXW1;Q149N5;Q8N1I0;Q8N1I0-2;Q8N1I0-4	.|.;.;.;DOCK4_HUMAN;.;.	H|L	1302;1912|1868;1889;763;1880;1839	.|ENSP00000410746:V1889L;ENSP00000440944:V763L;ENSP00000404179:V1880L	.|ENSP00000345432:V1839L	Q|V	-|-	3|1	2|0	DOCK4|DOCK4	111155829|111155829	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	0.421000|0.421000	0.21280|0.21280	0.054000|0.054000	0.16065|0.16065	0.561000|0.561000	0.74099|0.74099	CAG|GTG		0.647	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		G	111368593	C	G	111368593	3	3	699	1	0	0	0	0	1	0	0	0	4691	565	20	4	266	4	DOCK4	7	111368593	Missense_Mutation	SNP	C	TCGA-KL-8330-01A-11D-2310-10		111368593	47770070	32	38837											
BHLHE22	27319	mdanderson.org	37	8	65493429	65493429	+	Missense_Mutation	SNP	T	T	G	rs7016250	byFrequency	TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr8:65493429T>G	ENST00000321870.1	+	1	616	c.82T>G	c.(82-84)Tcc>Gcc	p.S28A	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	28			S -> A (in dbSNP:rs7016250).		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)			NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						CGCCTCCACCTCCAAGCGCTT	0.741													G|||	2648	0.528754	0.77	0.4452	5008	,	,		7262	0.5546		0.326	False		,,,				2504	0.4438				Colon(113;104 1586 2865 9855 18065)											0								G	ALA/SER	2630,1430		896,838,296	8	8	8		82	2.5	1	8	dbSNP_116	8	2053,6051		317,1419,2316	yes	missense	BHLHE22	NM_152414.4	99	1213,2257,2612	GG,GT,TT		25.3332,35.2217,38.4988	benign	28/382	65493429	4683,7481	2030	4052	6082	SO:0001583	missense	27319			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.82T>G	8.37:g.65493429T>G	ENSP00000318799:p.Ser28Ala			Missense_Mutation	SNP	ENST00000321870.1	37	CCDS6179.1	1097	0.5022893772893773	369	0.75	153	0.42265193370165743	335	0.5856643356643356	240	0.316622691292876	t	0.020	-1.436684	0.01108	0.647783	0.253332	ENSG00000180828	ENST00000321870	D	0.94537	-3.45	3.39	2.5	0.30297	.	0.179067	0.36374	N	0.002635	T	0.00012	0.0000	N	0.04880	-0.145	0.49051	P	2.590000000000092E-4	B	0.02656	0.0	B	0.01281	0.0	T	0.42649	-0.9439	9	0.02654	T	1	-14.5881	7.3158	0.26499	0.0929:0.0:0.7396:0.1674	rs7016250	28	Q8NFJ8	BHE22_HUMAN	A	28	ENSP00000318799:S28A	ENSP00000318799:S28A	S	+	1	0	BHLHE22	65655983	1.000000	0.71417	0.993000	0.49108	0.580000	0.36256	3.146000	0.50631	0.272000	0.22027	-0.399000	0.06403	TCC		0.741	BHLHE22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378549.1	NM_152414		G	65493429	T	G	65493429	3	3	699	1	0	0	0	0	1	0	0	0	1421	1551	54	5	84	5	BHLHE22	8	65493429	Missense_Mutation	SNP	T	TCGA-KL-8330-01A-11D-2310-10		65493429	80870593	33	38838											
CHMP4C	92421	broad.mit.edu	37	8	82644910	82644911	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr8:82644910_82644911insG	ENST00000297265.4	+	1	242_243	c.49_50insG	c.(49-51)cgafs	p.R17fs		NM_152284.3	NP_689497.1	Q96CF2	CHM4C_HUMAN	charged multivesicular body protein 4C	17	Intramolecular interaction with C- terminus. {ECO:0000250}.				abscission (GO:0009838)|cytokinesis checkpoint (GO:0031565)|endosomal transport (GO:0016197)|membrane organization (GO:0061024)|negative regulation of cytokinesis (GO:0032466)|positive regulation of viral release from host cell (GO:1902188)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Flemming body (GO:0090543)|membrane (GO:0016020)|midbody (GO:0030496)	protein homodimerization activity (GO:0042803)			NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	10						TTCTAAGAGCCGAGCCGCTCCC	0.599																																																0																																										SO:0001589	frameshift_variant	92421			AK000049	CCDS6233.1	8q21.13	2011-09-21	2011-09-21		ENSG00000164695	ENSG00000164695		"Charged multivesicular body proteins"	30599	protein-coding gene	gene with protein product	"Snf7 homologue associated with Alix 3"	610899	"chromatin modifying protein 4C"			12860994 , 14678797	Standard	NM_152284		Approved	MGC22825, Shax3, VPS32C	uc003ycl.3	Q96CF2	OTTHUMG00000164726	ENST00000297265.4:c.50dupG	8.37:g.82644911_82644911dupG	ENSP00000297265:p.Arg17fs		B2RBZ1	Frame_Shift_Ins	INS	ENST00000297265.4	37	CCDS6233.1																																																																																				0.599	CHMP4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379927.1	NM_152284		G	82644911	-	G	82644910	7	5	699	1	0	1	1	0	0	0	0	0	3360	644	23	0	51	0	CHMP4C	8	82644910	Frame_Shift_Ins	INS	-	TCGA-KL-8330-01A-11D-2310-10	17151481	82644910	63719112	34	38839											
CSMD3	114788	mdanderson.org	37	8	113237129	113237129	+	Silent	SNP	A	A	G			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr8:113237129A>G	ENST00000297405.5	-	71	11239	c.10995T>C	c.(10993-10995)tgT>tgC	p.C3665C	CSMD3_ENST00000343508.3_Silent_p.C3625C|CSMD3_ENST00000455883.2_Silent_p.C3496C|CSMD3_ENST00000352409.3_Silent_p.C3595C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3665						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						CATGAACTGAACATCCTGTAT	0.413										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																						0													335	304	314					8																	113237129		2203	4300	6503	SO:0001819	synonymous_variant	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10995T>C	8.37:g.113237129A>G			Q96PZ3	Silent	SNP	ENST00000297405.5	37	CCDS6315.1																																																																																				0.413	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		G	113237129	A	G	113237129	2	3	699	1	0	0	0	0	0	0	0	1	3948	41	2	3		3	CSMD3	8	113237129	Silent	SNP	A	TCGA-KL-8330-01A-11D-2310-10	30592219	113237129	33126893	35	38840											
ZNF696	79943	mdanderson.org	37	8	144378277	144378277	+	Silent	SNP	G	G	C	rs61729412	byFrequency	TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr8:144378277G>C	ENST00000330143.3	+	3	841	c.432G>C	c.(430-432)cgG>cgC	p.R144R		NM_030895.2	NP_112157.2	Q9H7X3	ZN696_HUMAN	zinc finger protein 696	144					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)			lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	8	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)			CAAAGCACCGGAGCATCCACT	0.716													G|||	111	0.0221645	0.0794	0.0072	5008	,	,		13683	0.0		0.001	False		,,,				2504	0.0															0								G		247,4149		8,231,1959	22	16	18		432	1.4	0.1	8	dbSNP_129	18	4,8586		0,4,4291	no	coding-synonymous	ZNF696	NM_030895.2		8,235,6250	CC,CG,GG		0.0466,5.6187,1.9329		144/375	144378277	251,12735	2198	4295	6493	SO:0001819	synonymous_variant	79943			AK024191	CCDS6399.1	8q24.3	2013-01-08				ENSG00000185730		"Zinc fingers, C2H2-type"	25872	protein-coding gene	gene with protein product							Standard	NM_030895		Approved	FLJ14129	uc003yxy.4	Q9H7X3		ENST00000330143.3:c.432G>C	8.37:g.144378277G>C			A0AVE2	Silent	SNP	ENST00000330143.3	37	CCDS6399.1																																																																																				0.716	ZNF696-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381164.2	NM_030895		C	144378277	G	C	144378277	2	2	699	1	0	0	0	0	0	0	0	1	18104	1161	41	4		4	ZNF696	8	144378277	Silent	SNP	G	TCGA-KL-8330-01A-11D-2310-10	31141148	144378277	1985745	36	38841											
NFKBIL2	4796	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	8	145661996	145661996	+	Silent	SNP	C	C	T			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr8:145661996C>T	ENST00000409379.3	-	16	1988	c.1959G>A	c.(1957-1959)acG>acA	p.T653T	AC084125.4_ENST00000442850.1_RNA|AC084125.4_ENST00000544423.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	653					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						CCTTCTGCCGCGTCTCCAGGT	0.672																																																0													46	48	47					8																	145661996		2203	4300	6503	SO:0001819	synonymous_variant	4796				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.1959G>A	8.37:g.145661996C>T			B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Silent	SNP	ENST00000409379.3	37	CCDS34968.2																																																																																				0.672	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329668.2	NM_013432		T	145661996	C	T	145661996	2	4	699	1	0	0	0	0	0	0	0	1	10384	755	27	1		1	NFKBIL2	8	145661996	Silent	SNP	C	TCGA-KL-8330-01A-11D-2310-10	1283719	145661996	702026	37	38842											
ZCCHC6	79670	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	9	88937294	88937294	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr9:88937294G>A	ENST00000375963.3	-	14	3146	c.2974C>T	c.(2974-2976)Cca>Tca	p.P992S	ZCCHC6_ENST00000375961.2_Missense_Mutation_p.P992S|ZCCHC6_ENST00000469004.1_5'Flank|ZCCHC6_ENST00000277141.6_Missense_Mutation_p.P281S|ZCCHC6_ENST00000375957.1_5'Flank|ZCCHC6_ENST00000375960.2_Intron	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	992					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						GGTGTTAATGGTGGCAGAGGT	0.373																																																0													121	122	121					9																	88937294		2203	4300	6503	SO:0001583	missense	79670			AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"Zinc fingers, CCHC domain containing"	25817	protein-coding gene	gene with protein product	"TUTase7"					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.2974C>T	9.37:g.88937294G>A	ENSP00000365130:p.Pro992Ser		Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Missense_Mutation	SNP	ENST00000375963.3	37	CCDS35057.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.305275	0.60305	.	.	ENSG00000083223	ENST00000277141;ENST00000375961;ENST00000375963	T;T;T	0.58210	0.35;0.75;0.81	5.48	5.48	0.80851	.	0.109012	0.64402	D	0.000007	T	0.51958	0.1705	L	0.52126	1.63	0.52099	D	0.999946	P	0.45672	0.864	B	0.41332	0.354	T	0.53078	-0.8489	10	0.44086	T	0.13	-48.2633	19.5559	0.95347	0.0:0.0:1.0:0.0	.	992	Q5VYS8	TUT7_HUMAN	S	281;992;992	ENSP00000277141:P281S;ENSP00000365128:P992S;ENSP00000365130:P992S	ENSP00000277141:P281S	P	-	1	0	ZCCHC6	88127114	1.000000	0.71417	0.995000	0.50966	0.827000	0.46813	4.036000	0.57304	2.861000	0.98227	0.650000	0.86243	CCA		0.373	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1	NM_024617		A	88937294	G	A	88937294	3	1	699	1	0	0	0	0	1	0	0	0	17597	1261	44	2	1569	2	ZCCHC6	9	88937294	Missense_Mutation	SNP	G	TCGA-KL-8330-01A-11D-2310-10		88937294	52276137	38	38843											
OR13C2	392376	mdanderson.org	37	9	107367674	107367674	+	Missense_Mutation	SNP	G	G	A	rs41312234	byFrequency	TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr9:107367674G>A	ENST00000542196.1	-	1	277	c.235C>T	c.(235-237)Ccc>Tcc	p.P79S		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	79						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(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						AGCGTGGAGGGAATAGAGGTG	0.502																																																0													23	25	25					9																	107367674		2197	4290	6487	SO:0001583	missense	392376				CCDS35092.1	9q31.1	2012-10-03			ENSG00000257019	ENSG00000276119		"GPCR / Class A : Olfactory receptors"	14701	protein-coding gene	gene with protein product							Standard	NM_001004481		Approved		uc011lvq.2	Q8NGS9	OTTHUMG00000020415	ENST00000542196.1:c.235C>T	9.37:g.107367674G>A	ENSP00000438815:p.Pro79Ser		B9EGV8|Q6IF54	Missense_Mutation	SNP	ENST00000542196.1	37	CCDS35092.1	.	.	.	.	.	.	.	.	.	.	G	8.276	0.814512	0.16607	.	.	ENSG00000257019	ENST00000542196	T	0.01854	4.6	3.39	2.49	0.30216	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36740	U	0.002425	T	0.08088	0.0202	H	0.96365	3.81	0.26847	N	0.968253	B	0.33739	0.422	B	0.36134	0.218	T	0.05273	-1.0895	10	0.72032	D	0.01	.	8.5547	0.33474	0.1183:0.0:0.8817:0.0	rs41312234	79	Q8NGS9	O13C2_HUMAN	S	79	ENSP00000438815:P79S	ENSP00000438815:P79S	P	-	1	0	OR13C2	106407495	1.000000	0.71417	0.002000	0.10522	0.171000	0.22731	3.742000	0.55097	0.635000	0.30488	-0.369000	0.07265	CCC		0.502	OR13C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053489.2	NM_001004481		A	107367674	G	A	107367674	3	1	699	1	0	0	0	0	1	0	0	0	10936	1174	41	2	724	2	OR13C2	9	107367674	Missense_Mutation	SNP	G	TCGA-KL-8330-01A-11D-2310-10	18430380	107367674	33845757	39	38844											
CDHR5	53841	broad.mit.edu	37	11	618824	618824	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr11:618824delA	ENST00000358353.3	-	14	2057	c.1735delT	c.(1735-1737)tctfs	p.S579fs	CDHR5_ENST00000349570.7_Intron|IRF7_ENST00000397562.3_5'Flank|CDHR5_ENST00000397542.2_Frame_Shift_Del_p.S579fs|IRF7_ENST00000330243.5_5'Flank|IRF7_ENST00000397570.1_5'Flank|IRF7_ENST00000397574.2_5'Flank			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	579	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						ATCGGCTGAGAGGTTCCTGGC	0.667																																																0													110	116	114					11																	618824		2203	4300	6503	SO:0001589	frameshift_variant	53841			AF258675	CCDS7707.1, CCDS7708.1	11p15.5	2011-07-01	2010-01-25	2010-01-25	ENSG00000099834	ENSG00000099834		"Cadherins / Cadherin-related"	7521	protein-coding gene	gene with protein product		606839	"mucin and cadherin-like", "mucin-like protocadherin"	MUCDHL, MUPCDH		11031102, 10801787	Standard	NM_021924		Approved	FLJ20219, MU-PCDH	uc001lqj.3	Q9HBB8	OTTHUMG00000132018	ENST00000358353.3:c.1735delT	11.37:g.618824delA	ENSP00000351118:p.Ser579fs		C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	Frame_Shift_Del	DEL	ENST00000358353.3	37	CCDS7707.1																																																																																				0.667	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255023.2	NM_021924		-	618824	A	-	618824	7	5	699	1	0	1	0	1	0	0	0	0	3124	304	11	0	814	0	CDHR5	11	618824	Frame_Shift_Del	DEL	A	TCGA-KL-8330-01A-11D-2310-10		618824	134387692	40	38845	309	2									
CDHR5	53841	broad.mit.edu	37	11	618827	618827	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr11:618827delT	ENST00000358353.3	-	14	2054	c.1732delA	c.(1732-1734)accfs	p.T578fs	CDHR5_ENST00000349570.7_Intron|IRF7_ENST00000397562.3_5'Flank|CDHR5_ENST00000397542.2_Frame_Shift_Del_p.T578fs|IRF7_ENST00000330243.5_5'Flank|IRF7_ENST00000397570.1_5'Flank|IRF7_ENST00000397574.2_5'Flank			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	578	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						GGCTGAGAGGTTCCTGGCTCT	0.667																																																0													110	117	115					11																	618827		2203	4300	6503	SO:0001589	frameshift_variant	53841			AF258675	CCDS7707.1, CCDS7708.1	11p15.5	2011-07-01	2010-01-25	2010-01-25	ENSG00000099834	ENSG00000099834		"Cadherins / Cadherin-related"	7521	protein-coding gene	gene with protein product		606839	"mucin and cadherin-like", "mucin-like protocadherin"	MUCDHL, MUPCDH		11031102, 10801787	Standard	NM_021924		Approved	FLJ20219, MU-PCDH	uc001lqj.3	Q9HBB8	OTTHUMG00000132018	ENST00000358353.3:c.1732delA	11.37:g.618827delT	ENSP00000351118:p.Thr578fs		C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	Frame_Shift_Del	DEL	ENST00000358353.3	37	CCDS7707.1																																																																																				0.667	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255023.2	NM_021924		-	618827	T	-	618827	7	5	699	1	0	1	0	1	0	0	0	0	3124	1725	60	0	817	0	CDHR5	11	618827	Frame_Shift_Del	DEL	T	TCGA-KL-8330-01A-11D-2310-10	3	618827	134387689	41	38846	309	2									
MUC6	4588	bcgsc.ca	37	11	1017280	1017280	+	Missense_Mutation	SNP	G	G	T	rs199539548		TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr11:1017280G>T	ENST00000421673.2	-	31	5571	c.5521C>A	c.(5521-5523)Cca>Aca	p.P1841T		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1841	Approximate repeats.|Thr-rich.				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)		GAGAAAGATGGAACGTGAGTG	0.537																																																0													652	616	628					11																	1017280		2199	4282	6481	SO:0001583	missense	4588			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.5521C>A	11.37:g.1017280G>T	ENSP00000406861:p.Pro1841Thr		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	7.317	0.616153	0.14129	.	.	ENSG00000184956	ENST00000421673	T	0.57595	0.39	3.21	-3.93	0.04143	.	.	.	.	.	T	0.56963	0.2021	M	0.68317	2.08	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.50092	-0.8868	9	0.16420	T	0.52	.	1.0186	0.01513	0.1779:0.254:0.3105:0.2576	.	1841	Q6W4X9	MUC6_HUMAN	T	1841	ENSP00000406861:P1841T	ENSP00000406861:P1841T	P	-	1	0	MUC6	1007280	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.710000	0.05024	-1.011000	0.03391	0.313000	0.20887	CCA		0.537	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		T	1017280	G	T	1017280	3	4	699	1	0	0	0	0	1	0	0	0	9982	1174	41	4	1810	4	MUC6	11	1017280	Missense_Mutation	SNP	G	TCGA-KL-8330-01A-11D-2310-10	398453	1017280	133989236	42	38847											
MUC6	4588	ucsc.edu;mdanderson.org;bcgsc.ca	37	11	1024889	1024889	+	Missense_Mutation	SNP	C	C	G			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr11:1024889C>G	ENST00000421673.2	-	24	3230	c.3180G>C	c.(3178-3180)aaG>aaC	p.K1060N		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1060	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)		TGACGCTGCACTTGCGCTCGG	0.657																																																0													30	36	34					11																	1024889		2089	4220	6309	SO:0001583	missense	4588			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.3180G>C	11.37:g.1024889C>G	ENSP00000406861:p.Lys1060Asn		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.617761	0.46736	.	.	ENSG00000184956	ENST00000421673	T	0.76578	-1.03	4.03	1.02	0.19986	von Willebrand factor, type D domain (1);Uncharacterised domain, cysteine-rich (2);	0.920448	0.08636	U	0.916343	T	0.78773	0.4336	L	0.39397	1.21	0.29948	N	0.820519	D	0.57257	0.979	P	0.60236	0.871	T	0.68682	-0.5344	10	0.66056	D	0.02	.	5.5361	0.17011	0.0:0.5723:0.1467:0.281	.	1060	Q6W4X9	MUC6_HUMAN	N	1060	ENSP00000406861:K1060N	ENSP00000406861:K1060N	K	-	3	2	MUC6	1014889	0.931000	0.31567	0.991000	0.47740	0.966000	0.64601	0.648000	0.24828	0.112000	0.17975	0.561000	0.74099	AAG		0.657	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		G	1024889	C	G	1024889	3	3	699	1	0	0	0	0	1	0	0	0	9982	564	20	4	4179	4	MUC6	11	1024889	Missense_Mutation	SNP	C	TCGA-KL-8330-01A-11D-2310-10	7609	1024889	133981627	43	38848											
MUC5B	727897	mdanderson.org	37	11	1270382	1270382	+	Missense_Mutation	SNP	C	C	G	rs199736618	byFrequency	TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr11:1270382C>G	ENST00000529681.1	+	31	12330	c.12272C>G	c.(12271-12273)aCg>aGg	p.T4091R	MUC5B_ENST00000447027.1_Missense_Mutation_p.T4094R|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4091	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)		GGCCACACCACGGCCACCTCC	0.701																																																0													96	131	120					11																	1270382		2100	4206	6306	SO:0001583	missense	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.12272C>G	11.37:g.1270382C>G	ENSP00000436812:p.Thr4091Arg		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	c	6.921	0.539550	0.13250	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.22945	1.93;2.11	2.44	0.0226	0.14133	.	.	.	.	.	T	0.29061	0.0722	M	0.67953	2.075	0.19575	N	0.999965	P;P	0.47302	0.825;0.893	B;P	0.45681	0.257;0.49	T	0.18085	-1.0348	9	0.87932	D	0	.	6.5051	0.22190	0.0:0.6987:0.1834:0.118	.	4564;4094	A7Y9J9;E9PBJ0	.;.	R	4091;4094;4035;3941	ENSP00000436812:T4091R;ENSP00000415793:T4094R	ENSP00000343037:T4035R	T	+	2	0	MUC5B	1226958	0.000000	0.05858	0.001000	0.08648	0.141000	0.21300	-0.528000	0.06193	0.333000	0.23563	0.393000	0.25936	ACG		0.701	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		G	1270382	C	G	1270382	3	3	699	1	0	0	0	0	1	0	0	0	9981	536	19	4	12403	4	MUC5B	11	1270382	Missense_Mutation	SNP	C	TCGA-KL-8330-01A-11D-2310-10	245493	1270382	133736134	44	38849											
FUT4	2526	ucsc.edu;mdanderson.org	37	11	94278062	94278062	+	Missense_Mutation	SNP	A	A	G	rs2230273	byFrequency	TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr11:94278062A>G	ENST00000358752.2	+	1	1046	c.763A>G	c.(763-765)Atc>Gtc	p.I255V	RP11-867G2.8_ENST00000536540.1_RNA|RP11-867G2.8_ENST00000537874.1_RNA	NM_002033.3	NP_002024.1	P22083	FUT4_HUMAN	fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific)	255			I -> V (in dbSNP:rs2230273).		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)				GCCCTGGGGCATCCAGGCGCA	0.726													G|||	517	0.103235	0.32	0.0317	5008	,	,		9733	0.0139		0.0139	False		,,,				2504	0.045															0								G	VAL/ILE	801,3091		86,629,1231	7	8	8		763	2	0	11	dbSNP_98	8	62,7852		1,60,3896	yes	missense	FUT4	NM_002033.3	29	87,689,5127	GG,GA,AA		0.7834,20.5807,7.3098	benign	255/531	94278062	863,10943	1946	3957	5903	SO:0001583	missense	2526				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.763A>G	11.37:g.94278062A>G	ENSP00000351602:p.Ile255Val		B2RMS0	Missense_Mutation	SNP	ENST00000358752.2	37	CCDS8301.1	173	0.07921245421245421	148	0.3008130081300813	12	0.03314917127071823	5	0.008741258741258742	8	0.010554089709762533	g	0.006	-2.069712	0.00382	0.205807	0.007834	ENSG00000196371	ENST00000358752	T	0.30182	1.54	4.0	2.01	0.26516	.	.	.	.	.	T	0.00012	0.0000	N	0.00436	-1.5	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.43475	-0.9389	8	0.02654	T	1	.	6.5473	0.22412	0.3539:0.0:0.6461:0.0	rs2230273;rs2230273	255	P22083	FUT4_HUMAN	V	255	ENSP00000351602:I255V	ENSP00000351602:I255V	I	+	1	0	FUT4	93917710	0.343000	0.24818	0.012000	0.15200	0.047000	0.14425	1.265000	0.33027	0.061000	0.16311	-0.374000	0.07098	ATC		0.726	FUT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396327.2	NM_002033		G	94278062	A	G	94278062	3	3	699	1	0	0	0	0	1	0	0	0	6108	217	8	3	765	3	FUT4	11	94278062	Missense_Mutation	SNP	A	TCGA-KL-8330-01A-11D-2310-10	93007680	94278062	40728454	45	38850											
MMP3	4314	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	11	102709283	102709283	+	Splice_Site	SNP	T	T	G			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr11:102709283T>G	ENST00000299855.5	-	8	1484	c.1228A>C	c.(1228-1230)Aga>Cga	p.R410R	WTAPP1_ENST00000525739.2_RNA	NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	410					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)	GCATCTCACCTCCAGTATTTG	0.423																																																0													156	153	154					11																	102709283		2203	4299	6502	SO:0001630	splice_region_variant	4314			X05232	CCDS8323.1	11q22.3	2012-10-02	2005-08-08		ENSG00000149968	ENSG00000149968	3.4.24.17		7173	protein-coding gene	gene with protein product		185250	"matrix metalloproteinase 3 (stromelysin 1, progelatinase)"	STMY1, STMY			Standard	NM_002422		Approved		uc001phj.1	P08254	OTTHUMG00000048254	ENST00000299855.5:c.1229+1A>C	11.37:g.102709283T>G			B2R8B8|Q3B7S0|Q6GRF8	Silent	SNP	ENST00000299855.5	37	CCDS8323.1																																																																																				0.423	MMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109758.2	NM_002422	Silent	G	102709283	T	G	102709283	5	3	699	1	0	0	0	0	0	0	1	0	9668	1565	54	5	217	5	MMP3	11	102709283	Splice_Site	SNP	T	TCGA-KL-8330-01A-11D-2310-10	8431221	102709283	32297233	46	38851											
GLB1L2	89944	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	11	134214285	134214285	+	Missense_Mutation	SNP	G	G	T			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr11:134214285G>T	ENST00000535456.2	+	3	477	c.289G>T	c.(289-291)Gtt>Ttt	p.V97F	GLB1L2_ENST00000339772.7_Missense_Mutation_p.V97F|GLB1L2_ENST00000389881.3_Missense_Mutation_p.V97F	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	97					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)			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)		TTGCAGCTATGTTCCGTGGAA	0.453																																																0													203	195	198					11																	134214285		2201	4297	6498	SO:0001583	missense	89944				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.289G>T	11.37:g.134214285G>T	ENSP00000444628:p.Val97Phe		A6NCE6|Q6UX60|Q8NC62|Q8NCB3|Q8NCJ1|Q96HP3	Missense_Mutation	SNP	ENST00000535456.2	37	CCDS31724.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.26|18.26	3.585501|3.585501	0.66105|0.66105	.|.	.|.	ENSG00000149328|ENSG00000149328	ENST00000525089|ENST00000339772;ENST00000535456;ENST00000389881	.|D;D;D	.|0.98996	.|-5.31;-5.31;-5.31	5.05|5.05	1.97|1.97	0.26223|0.26223	.|Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	.|0.138414	.|0.48286	.|D	.|0.000194	D|D	0.99111|0.99111	0.9694|0.9694	M|M	0.85630|0.85630	2.765|2.765	0.50171|0.50171	D|D	0.999851|0.999851	.|D	.|0.76494	.|0.999	.|D	.|0.79784	.|0.993	D|D	0.99486|0.99486	1.0949|1.0949	5|10	.|0.87932	.|D	.|0	-11.9247|-11.9247	10.8771|10.8771	0.46917|0.46917	0.2379:0.0:0.7621:0.0|0.2379:0.0:0.7621:0.0	.|.	.|97	.|Q8IW92	.|GLBL2_HUMAN	F|F	35|97	.|ENSP00000344659:V97F;ENSP00000444628:V97F;ENSP00000374531:V97F	.|ENSP00000344659:V97F	C|V	+|+	2|1	0|0	GLB1L2|GLB1L2	133719495|133719495	1.000000|1.000000	0.71417|0.71417	0.878000|0.878000	0.34440|0.34440	0.879000|0.879000	0.50718|0.50718	5.692000|5.692000	0.68256|0.68256	0.716000|0.716000	0.32124|0.32124	0.563000|0.563000	0.77884|0.77884	TGT|GTT		0.453	GLB1L2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393629.2	NM_138342		T	134214285	G	T	134214285	3	4	699	1	0	0	0	0	1	0	0	0	6431	1377	48	4	299	4	GLB1L2	11	134214285	Missense_Mutation	SNP	G	TCGA-KL-8330-01A-11D-2310-10	31505002	134214285	792231	47	38852											
CD163	9332	mdanderson.org;bcgsc.ca	37	12	7649507	7649507	+	Missense_Mutation	SNP	G	G	T			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr12:7649507G>T	ENST00000359156.4	-	5	1203	c.1001C>A	c.(1000-1002)tCt>tAt	p.S334Y	CD163_ENST00000432237.2_Missense_Mutation_p.S334Y|CD163_ENST00000541972.1_Missense_Mutation_p.S322Y|CD163_ENST00000396620.3_Missense_Mutation_p.S334Y	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	334	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.	Cleavage; in calcium-free condition.			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)	TCCCTGGCAAGAAACGCTGTC	0.493																																																0													145	100	115					12																	7649507		2203	4300	6503	SO:0001583	missense	9332			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.1001C>A	12.37:g.7649507G>T	ENSP00000352071:p.Ser334Tyr		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	G	7.150	0.583528	0.13749	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.36878	1.23;1.23;1.23;1.23	5.03	3.05	0.35203	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.810546	0.11502	N	0.557572	T	0.51261	0.1664	L	0.56124	1.755	0.09310	N	0.99999	D;P;D	0.71674	0.998;0.919;0.998	D;B;D	0.71184	0.972;0.42;0.972	T	0.28299	-1.0048	10	0.66056	D	0.02	.	8.374	0.32432	0.0:0.1458:0.5555:0.2987	.	334;334;334	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	Y	334;322;334;334	ENSP00000352071:S334Y;ENSP00000444071:S322Y;ENSP00000379863:S334Y;ENSP00000403885:S334Y	ENSP00000352071:S334Y	S	-	2	0	CD163	7540774	0.000000	0.05858	0.454000	0.27019	0.714000	0.41099	-0.478000	0.06575	1.229000	0.43630	0.561000	0.74099	TCT		0.493	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		T	7649507	G	T	7649507	3	4	699	1	0	0	0	0	1	0	0	0	2969	942	33	4	2517	4	CD163	12	7649507	Missense_Mutation	SNP	G	TCGA-KL-8330-01A-11D-2310-10		7649507	126202388	48	38853											
KCNJ8	3764	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	12	21918737	21918737	+	Silent	SNP	G	G	T			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr12:21918737G>T	ENST00000240662.2	-	3	1540	c.1195C>A	c.(1195-1197)Cga>Aga	p.R399R	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	KCNJ8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	399					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)	p.R399*(1)		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)	TTGTTCCTTCGGATAGAATTG	0.418																																																1	Substitution - Nonsense(1)	large_intestine(1)											144	139	140					12																	21918737		2203	4300	6503	SO:0001819	synonymous_variant	3764			BC000544	CCDS8692.1	12p12.1	2011-07-05			ENSG00000121361	ENSG00000121361		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6269	protein-coding gene	gene with protein product		600935				8595887, 16382105	Standard	NM_004982		Approved	Kir6.1	uc001rff.4	Q15842	OTTHUMG00000169093	ENST00000240662.2:c.1195C>A	12.37:g.21918737G>T			O00657	Silent	SNP	ENST00000240662.2	37	CCDS8692.1																																																																																				0.418	KCNJ8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402226.1	NM_004982		T	21918737	G	T	21918737	2	4	699	1	0	0	0	0	0	0	0	1	8058	1124	39	4		4	KCNJ8	12	21918737	Silent	SNP	G	TCGA-KL-8330-01A-11D-2310-10	14269230	21918737	111933158	49	38854											
KRT85	3891	mdanderson.org	37	12	52760938	52760938	+	Silent	SNP	G	G	A			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr12:52760938G>A	ENST00000257901.3	-	1	327	c.252C>T	c.(250-252)tcC>tcT	p.S84S	KRT85_ENST00000544265.1_5'Flank	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	84	Head.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		ACACGCCCCCGGAGCGGTAGC	0.687																																																0													39	48	45					12																	52760938		2203	4300	6503	SO:0001819	synonymous_variant	3891			X99140	CCDS8824.1, CCDS73472.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000135443	ENSG00000135443		"-", "Intermediate filaments type II, keratins (basic)"	6462	protein-coding gene	gene with protein product	"hard keratin type II"	602767	"keratin, hair, basic, 5"	KRTHB5		9084137, 16831889	Standard	NM_002283		Approved	Hb-5	uc001sag.3	P78386	OTTHUMG00000169633	ENST00000257901.3:c.252C>T	12.37:g.52760938G>A			Q9NSB1	Silent	SNP	ENST00000257901.3	37	CCDS8824.1																																																																																				0.687	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405184.1	NM_002283		A	52760938	G	A	52760938	2	1	699	1	0	0	0	0	0	0	0	1	8501	1103	39	1		1	KRT85	12	52760938	Silent	SNP	G	TCGA-KL-8330-01A-11D-2310-10	30842201	52760938	81090957	50	38855											
RPH3A	22895	hgsc.bcm.edu;mdanderson.org	37	12	113303275	113303275	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr12:113303275A>G	ENST00000389385.4	+	6	784	c.287A>G	c.(286-288)aAc>aGc	p.N96S	RPH3A_ENST00000551052.1_Missense_Mutation_p.N92S|RPH3A_ENST00000447659.2_Missense_Mutation_p.N47S|RPH3A_ENST00000543106.2_Missense_Mutation_p.N96S|RPH3A_ENST00000415485.3_Missense_Mutation_p.N96S|RPH3A_ENST00000548866.1_Missense_Mutation_p.N47S|RPH3A_ENST00000420983.2_Missense_Mutation_p.N96S	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	96	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		GATGGGGTGAACCGCTGCATA	0.527																																																0													204	178	187					12																	113303275		2203	4300	6503	SO:0001583	missense	22895			AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"Synaptotagmins"	17056	protein-coding gene	gene with protein product		612159	"rabphilin 3A homolog (mouse)"			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.287A>G	12.37:g.113303275A>G	ENSP00000374036:p.Asn96Ser		B7Z3C3|Q96AE0	Missense_Mutation	SNP	ENST00000389385.4	37	CCDS44979.1	.	.	.	.	.	.	.	.	.	.	A	5.941	0.357590	0.11239	.	.	ENSG00000089169	ENST00000548197;ENST00000543106;ENST00000551593;ENST00000547840;ENST00000547728;ENST00000549769;ENST00000552667;ENST00000389385;ENST00000447659;ENST00000550901;ENST00000551198;ENST00000551052;ENST00000415485;ENST00000553114;ENST00000548866;ENST00000420983	T;T;T;T;T;T;T;T;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;-0.92;-0.92;-0.92;-0.92;-0.92;-0.92;-0.92;-0.92	5.61	4.47	0.54385	Zinc finger, RING/FYVE/PHD-type (1);Rab-binding domain (1);Zinc finger, FYVE-related (1);Rabphilin-3A effector, zinc-binding (1);Zinc finger, FYVE/PHD-type (1);	0.080012	0.50627	D	0.000101	T	0.59321	0.2185	N	0.25332	0.735	0.41201	D	0.986372	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.09377	0.004;0.001;0.001;0.001	T	0.51403	-0.8710	10	0.21540	T	0.41	.	10.5859	0.45282	0.9234:0.0:0.0766:0.0	.	47;96;96;92	F8VP47;B7Z9Z7;Q9Y2J0;Q9Y2J0-2	.;.;RP3A_HUMAN;.	S	96;96;96;96;96;96;96;96;47;29;96;92;96;96;47;96	ENSP00000446570:N96S;ENSP00000440384:N96S;ENSP00000446780:N96S;ENSP00000450382:N96S;ENSP00000449613:N96S;ENSP00000447505:N96S;ENSP00000449650:N96S;ENSP00000374036:N96S;ENSP00000413254:N47S;ENSP00000448100:N29S;ENSP00000447083:N96S;ENSP00000448297:N92S;ENSP00000405357:N96S;ENSP00000450216:N96S;ENSP00000450347:N47S;ENSP00000408889:N96S	ENSP00000374036:N96S	N	+	2	0	RPH3A	111787658	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.592000	0.46171	0.958000	0.37956	0.533000	0.62120	AAC		0.527	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405561.1	NM_014954		G	113303275	A	G	113303275	3	3	699	1	0	0	0	0	1	0	0	0	13557	43	2	3	301	3	RPH3A	12	113303275	Missense_Mutation	SNP	A	TCGA-KL-8330-01A-11D-2310-10	60542337	113303275	20548620	51	38856											
KIAA1704	55425	broad.mit.edu;bcgsc.ca	37	13	45582989	45582989	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr13:45582989A>G	ENST00000379151.4	+	4	486	c.383A>G	c.(382-384)aAg>aGg	p.K128R	GPALPP1_ENST00000361121.2_Missense_Mutation_p.K128R|RP11-321C24.1_ENST00000437748.2_lincRNA|GPALPP1_ENST00000357537.3_5'UTR	NM_018559.2	NP_061029.2	Q8IXQ4	GPAM1_HUMAN	GPALPP motifs containing 1	128																	AAAAGTGACAAGGGCAGAGAT	0.368																																																0													84	75	78					13																	45582989		2203	4300	6503	SO:0001583	missense	55425			AB051491	CCDS9394.1	13q14.12	2013-08-13	2013-08-12	2013-08-12	ENSG00000133114	ENSG00000133114			20298	protein-coding gene	gene with protein product			"KIAA1704"	KIAA1704		11214970	Standard	NM_018559		Approved	bA245H20.2, AD029, LSR7	uc001uzq.3	Q8IXQ4	OTTHUMG00000016841	ENST00000379151.4:c.383A>G	13.37:g.45582989A>G	ENSP00000368447:p.Lys128Arg		A8K8X8|Q05BX8|Q05D87|Q5T3Z3|Q5T3Z5|Q9C0F9|Q9H2R0|Q9P0W6	Missense_Mutation	SNP	ENST00000379151.4	37	CCDS9394.1	.	.	.	.	.	.	.	.	.	.	A	12.10	1.836425	0.32421	.	.	ENSG00000133114	ENST00000379151;ENST00000361121	T;T	0.55234	0.53;0.53	5.31	1.59	0.23543	.	0.778085	0.12671	N	0.448776	T	0.32912	0.0845	N	0.22421	0.69	0.23043	N	0.99838	B	0.02656	0.0	B	0.04013	0.001	T	0.21552	-1.0242	10	0.16896	T	0.51	-13.9596	7.2745	0.26275	0.6279:0.0:0.3721:0.0	.	128	Q8IXQ4	K1704_HUMAN	R	128	ENSP00000368447:K128R;ENSP00000355211:K128R	ENSP00000355211:K128R	K	+	2	0	KIAA1704	44480989	0.234000	0.23783	0.997000	0.53966	0.938000	0.57974	-0.169000	0.09911	0.133000	0.18654	0.528000	0.53228	AAG		0.368	GPALPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044749.2	NM_018559		G	45582989	A	G	45582989	3	3	699	1	0	0	0	0	1	0	0	0	8254	72	3	3	397	3	KIAA1704	13	45582989	Missense_Mutation	SNP	A	TCGA-KL-8330-01A-11D-2310-10		45582989	69586889	52	38857											
LTB4R2	56413	mdanderson.org	37	14	24780364	24780364	+	Missense_Mutation	SNP	A	A	G	rs1950504	byFrequency	TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr14:24780364A>G	ENST00000528054.1	+	1	2204	c.587A>G	c.(586-588)gAc>gGc	p.D196G	LTB4R_ENST00000396789.4_5'Flank|LTB4R2_ENST00000543919.1_Missense_Mutation_p.D165G|CIDEB_ENST00000258807.5_5'UTR|LTB4R_ENST00000345363.3_5'Flank|CIDEB_ENST00000555817.1_Intron|CIDEB_ENST00000554411.1_5'Flank|LTB4R2_ENST00000533293.1_Missense_Mutation_p.D165G|CIDEB_ENST00000336557.5_5'UTR			Q9NPC1	LT4R2_HUMAN	leukotriene B4 receptor 2	196					chemotaxis (GO:0006935)|keratinocyte migration (GO:0051546)|negative regulation of adenylate cyclase activity (GO:0007194)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	leukotriene B4 receptor activity (GO:0001632)|leukotriene receptor activity (GO:0004974)			endometrium(1)|lung(1)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.018)		CTGTGGAGGGACCGCGTATGC	0.731													a|||	190	0.0379393	0.1399	0.0072	5008	,	,		13130	0.0		0.0	False		,,,				2504	0.0															0								G	GLY/ASP,,GLY/ASP	450,3898		24,402,1748	17	16	16		494,,494	-1.7	0	14	dbSNP_92	16	2,8500		0,2,4249	no	missense,utr-5,missense	CIDEB,LTB4R2	NM_001164692.2,NM_014430.2,NM_019839.4	94,,94	24,404,5997	GG,GA,AA		0.0235,10.3496,3.5175	benign,,benign	165/359,,165/359	24780364	452,12398	2174	4251	6425	SO:0001583	missense	56413			AB008193	CCDS9625.1, CCDS9625.2	14q12	2014-04-11			ENSG00000213906	ENSG00000213906		"GPCR / Class A : Leukotriene receptors"	19260	protein-coding gene	gene with protein product		605773				11006272, 10934229	Standard	NM_001164692		Approved	BLTR2, BLT2, JULF2, NOP9	uc001wor.3	Q9NPC1	OTTHUMG00000186500	ENST00000528054.1:c.587A>G	14.37:g.24780364A>G	ENSP00000432146:p.Asp196Gly		Q5KU28|Q9NPE5	Missense_Mutation	SNP	ENST00000528054.1	37		85	0.03891941391941392	80	0.16260162601626016	5	0.013812154696132596	0	0.0	0	0.0	A	8.771	0.925972	0.18056	0.103496	2.35E-4	ENSG00000213906	ENST00000528054;ENST00000533293;ENST00000543919;ENST00000530080	T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65	4.88	-1.74	0.08056	GPCR, rhodopsin-like superfamily (1);	1.111770	0.06947	N	0.813820	T	0.00210	0.0006	N	0.05574	-0.02	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.02539	-1.1144	9	0.21014	T	0.42	.	6.262	0.20905	0.4321:0.1466:0.4212:0.0	rs1950504	196	Q9NPC1	LT4R2_HUMAN	G	196;165;165;165	ENSP00000432146:D196G;ENSP00000433290:D165G;ENSP00000445772:D165G;ENSP00000434760:D165G	ENSP00000337731:D196G	D	+	2	0	LTB4R2	23850204	0.000000	0.05858	0.014000	0.15608	0.878000	0.50629	-0.091000	0.11146	-0.069000	0.12931	-0.441000	0.05720	GAC		0.731	LTB4R2-001	KNOWN	basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000073194.4			G	24780364	A	G	24780364	3	3	699	1	0	0	0	0	1	0	0	0	9074	275	10	3	496	3	LTB4R2	14	24780364	Missense_Mutation	SNP	A	TCGA-KL-8330-01A-11D-2310-10		24780364	82569176	53	38858											
AHNAK2	113146	mdanderson.org	37	14	105413649	105413649	+	Silent	SNP	A	A	G	rs201545349	byFrequency	TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr14:105413649A>G	ENST00000333244.5	-	7	8258	c.8139T>C	c.(8137-8139)gaT>gaC	p.D2713D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2713						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)			GGAGTTTCACATCCACCTGGC	0.612													.|||	29	0.00579073	0.0174	0.0	5008	,	,		17337	0.0		0.0	False		,,,				2504	0.0061															0													130	144	139					14																	105413649		1936	4121	6057	SO:0001819	synonymous_variant	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.8139T>C	14.37:g.105413649A>G			Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																				0.612	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		G	105413649	A	G	105413649	2	3	699	1	0	0	0	0	0	0	0	1	415	214	8	3		3	AHNAK2	14	105413649	Silent	SNP	A	TCGA-KL-8330-01A-11D-2310-10	80633285	105413649	1935891	54	38859			1	71		4	4	2013	N	T_C_A	1.920509e-08
AHNAK2	113146	mdanderson.org	37	14	105413682	105413682	+	Silent	SNP	A	A	G	rs200358766	byFrequency	TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr14:105413682A>G	ENST00000333244.5	-	7	8225	c.8106T>C	c.(8104-8106)tcT>tcC	p.S2702S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2702						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)			CCAGTTGGGCAGAGGGGGGCT	0.617																																																0													140	156	151					14																	105413682		1966	4150	6116	SO:0001819	synonymous_variant	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.8106T>C	14.37:g.105413682A>G			Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																				0.617	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		G	105413682	A	G	105413682	2	3	699	1	0	0	0	0	0	0	0	1	415	175	7	3		3	AHNAK2	14	105413682	Silent	SNP	A	TCGA-KL-8330-01A-11D-2310-10	33	105413682	1935858	55	38860			1	71		4	4	2013	N	T_C_A	1.920509e-08
AHNAK2	113146	mdanderson.org	37	14	105413702	105413702	+	Missense_Mutation	SNP	T	T	G	rs373727930	byFrequency	TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr14:105413702T>G	ENST00000333244.5	-	7	8205	c.8086A>C	c.(8086-8088)Atc>Ctc	p.I2696L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2696						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)			TGAATGCTGATGTCAGTGGTC	0.622													.|||	5	0.000998403	0.0038	0.0	5008	,	,		18132	0.0		0.0	False		,,,				2504	0.0															0								G	LEU/ILE	6,4002		0,6,1998	155	169	164		8086	-6.6	0	14		164	0,8354		0,0,4177	no	missense	AHNAK2	NM_138420.2	5	0,6,6175	GG,GT,TT		0.0,0.1497,0.0485	benign	2696/5796	105413702	6,12356	2004	4177	6181	SO:0001583	missense	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.8086A>C	14.37:g.105413702T>G	ENSP00000353114:p.Ile2696Leu		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	N	1.766	-0.485464	0.04352	0.001497	0.0	ENSG00000185567	ENST00000333244	T	0.01215	5.16	3.28	-6.57	0.01842	.	.	.	.	.	T	0.00356	0.0011	N	0.00278	-1.715	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48422	-0.9037	9	0.27082	T	0.32	.	4.7288	0.12954	0.0859:0.4868:0.2062:0.2212	.	2696	Q8IVF2	AHNK2_HUMAN	L	2696	ENSP00000353114:I2696L	ENSP00000353114:I2696L	I	-	1	0	AHNAK2	104484747	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.340000	0.00506	-5.115000	0.00021	-4.489000	0.00005	ATC		0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		G	105413702	T	G	105413702	3	3	699	1	0	0	0	0	1	0	0	0	415	1464	51	5	9305	5	AHNAK2	14	105413702	Missense_Mutation	SNP	T	TCGA-KL-8330-01A-11D-2310-10	20	105413702	1935838	56	38861			1	71		4	4	2013	N	T_C_A	1.920509e-08
AHNAK2	113146	mdanderson.org	37	14	105415661	105415661	+	Missense_Mutation	SNP	C	C	T	rs200010377	byFrequency	TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr14:105415661C>T	ENST00000333244.5	-	7	6246	c.6127G>A	c.(6127-6129)Gcc>Acc	p.A2043T	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2043						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)			TTCAGGTCGGCAGAAGGGGGC	0.647													.|||	82	0.0163738	0.0129	0.0086	5008	,	,		12118	0.0079		0.008	False		,,,				2504	0.044															0													100	60	73					14																	105415661		1902	3958	5860	SO:0001583	missense	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.6127G>A	14.37:g.105415661C>T	ENSP00000353114:p.Ala2043Thr		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	-	14.22	2.469010	0.43839	.	.	ENSG00000185567	ENST00000333244	T	0.00912	5.55	3.87	0.935	0.19483	.	.	.	.	.	T	0.02571	0.0078	M	0.64080	1.96	0.09310	N	1	D	0.76494	0.999	D	0.68483	0.958	T	0.44757	-0.9307	9	0.14252	T	0.57	.	5.0829	0.14666	0.1662:0.6467:0.0:0.1871	.	2043	Q8IVF2	AHNK2_HUMAN	T	2043	ENSP00000353114:A2043T	ENSP00000353114:A2043T	A	-	1	0	AHNAK2	104486706	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.432000	0.21461	0.149000	0.19098	0.485000	0.47835	GCC		0.647	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		T	105415661	C	T	105415661	3	4	699	1	0	0	0	0	1	0	0	0	415	710	25	2	11264	2	AHNAK2	14	105415661	Missense_Mutation	SNP	C	TCGA-KL-8330-01A-11D-2310-10	1959	105415661	1933879	57	38862			1	71		4	4	2013	N	T_C_A	1.920509e-08
PPIP5K1	9677	broad.mit.edu	37	15	43827440	43827440	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr15:43827440delA	ENST00000396923.3	-	30	3855	c.3734delT	c.(3733-3735)atgfs	p.M1245fs	PPIP5K1_ENST00000360301.4_Frame_Shift_Del_p.M1220fs|PPIP5K1_ENST00000348806.6_Frame_Shift_Del_p.M1218fs|PPIP5K1_ENST00000381879.4_Frame_Shift_Del_p.M1221fs|PPIP5K1_ENST00000360135.4_Frame_Shift_Del_p.M1218fs|PPIP5K1_ENST00000420765.1_Frame_Shift_Del_p.M1245fs|PPIP5K1_ENST00000381885.1_Frame_Shift_Del_p.M1241fs|PPIP5K1_ENST00000334933.4_Frame_Shift_Del_p.M1220fs			Q6PFW1	VIP1_HUMAN	diphosphoinositol pentakisphosphate kinase 1	1245					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						GCTGGTTTCCATAGGTGGCAC	0.587																																																0													86	87	87					15																	43827440		2201	4298	6499	SO:0001589	frameshift_variant	9677			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.3734delT	15.37:g.43827440delA	ENSP00000380129:p.Met1245fs		O15082|Q5HYF8|Q7Z3A7|Q86TE7|Q86UV3|Q86UV4|Q86XW8|Q8IZN0	Frame_Shift_Del	DEL	ENST00000396923.3	37	CCDS45252.1																																																																																				0.587	PPIP5K1-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132907.1	NM_014659		-	43827440	A	-	43827440	7	5	699	1	0	1	0	1	0	0	0	0	12337	217	8	0	571	0	PPIP5K1	15	43827440	Frame_Shift_Del	DEL	A	TCGA-KL-8330-01A-11D-2310-10		43827440	58703952	58	38863											
MYO5C	55930	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	15	52562050	52562050	+	Silent	SNP	G	G	A			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr15:52562050G>A	ENST00000261839.7	-	8	1001	c.840C>T	c.(838-840)gcC>gcT	p.A280A	MYO5C_ENST00000541028.1_Intron|MYO5C_ENST00000443683.2_Silent_p.A223A	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	280	Myosin motor.					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)		TAAATTCTTCGGCACTCCCTG	0.378																																																0													167	151	156					15																	52562050		1859	4100	5959	SO:0001819	synonymous_variant	55930			AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"Myosins / Myosin superfamily : Class V"	7604	protein-coding gene	gene with protein product	"myosin 5C"	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.840C>T	15.37:g.52562050G>A			Q6P1W8	Silent	SNP	ENST00000261839.7	37	CCDS42036.1																																																																																				0.378	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728		A	52562050	G	A	52562050	2	1	699	1	0	0	0	0	0	0	0	1	10082	1103	39	1		1	MYO5C	15	52562050	Silent	SNP	G	TCGA-KL-8330-01A-11D-2310-10	8734610	52562050	49969342	59	38864											
WHAMM	123720	mdanderson.org	37	15	83478545	83478545	+	Missense_Mutation	SNP	C	C	G			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr15:83478545C>G	ENST00000286760.4	+	1	166	c.67C>G	c.(67-69)Ccc>Gcc	p.P23A		NM_001080435.1	NP_001073904.1	Q8TF30	WHAMM_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules	23	Mediates association with membranes. {ECO:0000269|PubMed:18614018}.				actin filament organization (GO:0007015)|actin filament reorganization (GO:0090527)|ER to Golgi vesicle-mediated transport (GO:0006888)|focal adhesion assembly (GO:0048041)|lamellipodium assembly (GO:0030032)|membrane tubulation (GO:0097320)|positive regulation of actin nucleation (GO:0051127)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|Golgi membrane (GO:0000139)	Arp2/3 complex binding (GO:0071933)|GTP-Rho binding (GO:0017049)|microtubule binding (GO:0008017)			endometrium(6)|large_intestine(5)|lung(1)|prostate(1)	13						CTTCGCCGAGCCCGAGAGGCA	0.726																																																0													10	11	11					15																	83478545		1590	3625	5215	SO:0001583	missense	123720			AK126887	CCDS45333.1	15q25.2	2009-02-18	2009-02-18	2009-02-18	ENSG00000156232	ENSG00000156232			30493	protein-coding gene	gene with protein product		612393	"WAS protein homology region 2 domain containing 1"	WHDC1		11853319, 18226259, 18614018, 18812086	Standard	XM_005272422		Approved	KIAA1971	uc002bje.3	Q8TF30		ENST00000286760.4:c.67C>G	15.37:g.83478545C>G	ENSP00000286760:p.Pro23Ala		Q8N1J9	Missense_Mutation	SNP	ENST00000286760.4	37	CCDS45333.1	.	.	.	.	.	.	.	.	.	.	C	15.19	2.760084	0.49468	.	.	ENSG00000156232	ENST00000286760;ENST00000234505	T	0.07021	3.23	5.44	3.56	0.40772	.	0.583381	0.18376	N	0.143118	T	0.10637	0.0260	M	0.66939	2.045	0.37618	D	0.921205	B	0.32753	0.383	B	0.28849	0.095	T	0.06881	-1.0802	10	0.44086	T	0.13	.	10.6106	0.45419	0.0:0.8451:0.0:0.1549	.	23	Q8TF30	WHAMM_HUMAN	A	23	ENSP00000286760:P23A	ENSP00000234505:P23A	P	+	1	0	WHAMM	81275599	0.925000	0.31364	0.628000	0.29241	0.970000	0.65996	0.721000	0.25911	0.671000	0.31185	0.585000	0.79938	CCC		0.726	WHAMM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418463.1			G	83478545	C	G	83478545	3	3	699	1	0	0	0	0	1	0	0	0	17366	739	26	4	69	4	WHAMM	15	83478545	Missense_Mutation	SNP	C	TCGA-KL-8330-01A-11D-2310-10	30916495	83478545	19052847	60	38865											
SULT1A1	6817	mdanderson.org	37	16	28620121	28620121	+	Missense_Mutation	SNP	G	G	A	rs200542791	byFrequency	TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr16:28620121G>A	ENST00000395607.1	-	2	329	c.56C>T	c.(55-57)cCg>cTg	p.P19L	SULT1A1_ENST00000350842.4_Intron|SULT1A1_ENST00000569554.1_Missense_Mutation_p.P19L|SULT1A1_ENST00000314752.7_Missense_Mutation_p.P19L|SULT1A1_ENST00000395609.1_Missense_Mutation_p.P19L	NM_177530.2|NM_177534.2	NP_803566.1|NP_803878.1	P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	19					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)	p.P19L(2)		endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16					Acetaminophen(DB00316)|Tamoxifen(DB00675)	CTTGATGAGCGGGACCCCCTT	0.632																																																2	Substitution - Missense(2)	kidney(2)											36	36	36					16																	28620121		2197	4293	6490	SO:0001583	missense	6817			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.56C>T	16.37:g.28620121G>A	ENSP00000378971:p.Pro19Leu		Q2NL71|Q86U58|Q92818|Q9BVU6|Q9UGG7	Missense_Mutation	SNP	ENST00000395607.1	37	CCDS32420.1	.	.	.	.	.	.	.	.	.	.	.	10.83	1.461115	0.26248	.	.	ENSG00000196502	ENST00000314752;ENST00000395609;ENST00000395607	T;T;T	0.01560	4.77;4.77;4.77	2.5	1.49	0.22878	.	0.000000	0.64402	D	0.000001	T	0.02807	0.0084	N	0.24115	0.695	0.47037	D	0.999295	D	0.89917	1.0	D	0.76071	0.987	T	0.57225	-0.7848	10	0.06625	T	0.88	.	7.8438	0.29414	0.1395:0.0:0.8605:0.0	.	19	P50225	ST1A1_HUMAN	L	19	ENSP00000321988:P19L;ENSP00000378972:P19L;ENSP00000378971:P19L	ENSP00000321988:P19L	P	-	2	0	SULT1A1	28527622	0.990000	0.36364	0.082000	0.20525	0.073000	0.16967	2.174000	0.42482	0.605000	0.29947	0.306000	0.20318	CCG		0.632	SULT1A1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254694.2	NM_001055		A	28620121	G	A	28620121	3	1	699	1	0	0	0	0	1	0	0	0	15377	1116	39	1	859	1	SULT1A1	16	28620121	Missense_Mutation	SNP	G	TCGA-KL-8330-01A-11D-2310-10		28620121	61734632	61	38866											
NECAB2	54550	broad.mit.edu;mdanderson.org	37	16	84024120	84024120	+	Missense_Mutation	SNP	G	G	A	rs531002237		TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr16:84024120G>A	ENST00000305202.4	+	6	498	c.481G>A	c.(481-483)Gtg>Atg	p.V161M	NECAB2_ENST00000565691.1_Missense_Mutation_p.V78M	NM_019065.2	NP_061938.2	Q7Z6G3	NECA2_HUMAN	N-terminal EF-hand calcium binding protein 2	161						cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19						TGGGAGCAACGTGGACCAGTT	0.582																																																0													88	80	83					16																	84024120		2200	4300	6500	SO:0001583	missense	54550			AY299331	CCDS10940.1	16q23.3-q24.1	2013-01-10	2007-12-06	2007-12-06	ENSG00000103154	ENSG00000103154		"N-terminal EF-hand calcium binding proteins", "EF-hand domain containing"	23746	protein-coding gene	gene with protein product			"EF-hand calcium binding protein 2"	EFCBP2		12044471	Standard	NM_019065		Approved		uc002fhd.3	Q7Z6G3	OTTHUMG00000137636	ENST00000305202.4:c.481G>A	16.37:g.84024120G>A	ENSP00000307449:p.Val161Met		A2RRG3|O75547|Q6ZSK0	Missense_Mutation	SNP	ENST00000305202.4	37	CCDS10940.1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.690055	0.29962	.	.	ENSG00000103154	ENST00000305202	T	0.21191	2.02	5.14	4.17	0.49024	.	0.000000	0.85682	D	0.000000	T	0.27169	0.0666	M	0.70842	2.15	0.49687	D	0.999815	D	0.57257	0.979	P	0.44518	0.452	T	0.07139	-1.0788	10	0.41790	T	0.15	-13.0244	13.1299	0.59375	0.0796:0.0:0.9204:0.0	.	161	Q7Z6G3	NECA2_HUMAN	M	161	ENSP00000307449:V161M	ENSP00000307449:V161M	V	+	1	0	NECAB2	82581621	1.000000	0.71417	0.989000	0.46669	0.271000	0.26615	3.193000	0.50997	2.388000	0.81334	0.549000	0.68633	GTG		0.582	NECAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269077.2	NM_019065		A	84024120	G	A	84024120	3	1	699	1	0	0	0	0	1	0	0	0	10307	1145	40	1	503	1	NECAB2	16	84024120	Missense_Mutation	SNP	G	TCGA-KL-8330-01A-11D-2310-10	55403999	84024120	6330633	62	38867											
CACNB1	782	ucsc.edu	37	17	37331681	37331681	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr17:37331681T>C	ENST00000394303.3	-	14	1769	c.1562A>G	c.(1561-1563)gAc>gGc	p.D521G	RP5-906A24.2_ENST00000579256.1_RNA	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	521					axon guidance (GO:0007411)|protein targeting to membrane (GO:0006612)|transport (GO:0006810)	sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Dronedarone(DB04855)|Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	AGTCTCCATGTCCACACATGA	0.657											OREG0024371	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(5;100 366 38393 41452 45827)											0													97	109	105					17																	37331681		1956	4143	6099	SO:0001583	missense	782				CCDS11334.1, CCDS42311.1, CCDS45665.1	17q21-q22	2013-03-20			ENSG00000067191	ENSG00000067191		"Calcium channel subunits"	1401	protein-coding gene	gene with protein product		114207		CACNLB1		8381767, 8395940	Standard	NM_000723		Approved		uc002hrm.2	Q02641	OTTHUMG00000133217	ENST00000394303.3:c.1562A>G	17.37:g.37331681T>C	ENSP00000377840:p.Asp521Gly	869	A8K114|O15331|Q02639|Q02640|Q8N3X9|Q9C085|Q9UD79	Missense_Mutation	SNP	ENST00000394303.3	37	CCDS42311.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.538855	0.85917	.	.	ENSG00000067191	ENST00000539338;ENST00000394303	T	0.79554	-1.28	5.67	4.6	0.57074	.	0.053621	0.64402	D	0.000001	T	0.74496	0.3724	L	0.51422	1.61	0.80722	D	1	B	0.15141	0.012	B	0.10450	0.005	T	0.73310	-0.4023	10	0.66056	D	0.02	-27.8644	10.2001	0.43077	0.0:0.0791:0.0:0.9209	.	521	Q02641	CACB1_HUMAN	G	471;521	ENSP00000377840:D521G	ENSP00000377840:D521G	D	-	2	0	CACNB1	34585207	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.651000	0.61447	2.169000	0.68431	0.459000	0.35465	GAC		0.657	CACNB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256945.3			C	37331681	T	C	37331681	3	2	699	1	0	0	0	0	1	0	0	0	2554	1667	58	3	238	3	CACNB1	17	37331681	Missense_Mutation	SNP	T	TCGA-KL-8330-01A-11D-2310-10		37331681	43863529	63	38868											
RNF213	57674	ucsc.edu	37	17	78326830	78326830	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr17:78326830A>G	ENST00000582970.1	+	33	10537	c.10394A>G	c.(10393-10395)cAg>cGg	p.Q3465R	CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.Q1538R|RNF213_ENST00000508628.2_Missense_Mutation_p.Q3514R|CTD-2047H16.4_ENST00000575034.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3465					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ACCATCAGCCAGCTGTTCGCG	0.627																																																0													74	68	70					17																	78326830		2203	4300	6503	SO:0001583	missense	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.10394A>G	17.37:g.78326830A>G	ENSP00000464087:p.Gln3465Arg		C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	A	15.66	2.898988	0.52227	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.24151	1.87	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.51058	0.1652	M	0.81239	2.535	0.38732	D	0.953683	D	0.71674	0.998	D	0.63283	0.913	T	0.60969	-0.7157	10	0.87932	D	0	.	14.5041	0.67741	1.0:0.0:0.0:0.0	.	1538	Q63HN8	RN213_HUMAN	R	3465;3514;1538	ENSP00000338218:Q1538R	ENSP00000338218:Q1538R	Q	+	2	0	RNF213	75941425	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	8.238000	0.89809	2.157000	0.67596	0.533000	0.62120	CAG		0.627	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		G	78326830	A	G	78326830	3	3	699	1	0	0	0	0	1	0	0	0	13483	188	7	3	10839	3	RNF213	17	78326830	Missense_Mutation	SNP	A	TCGA-KL-8330-01A-11D-2310-10	40995149	78326830	2868380	64	38869											
MIB1	57534	broad.mit.edu	37	18	19379923	19379923	+	Silent	SNP	A	A	G			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr18:19379923A>G	ENST00000261537.6	+	9	1623	c.1359A>G	c.(1357-1359)agA>agG	p.R453R	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	453					blood vessel development (GO:0001568)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|negative regulation of neuron differentiation (GO:0045665)|neural tube formation (GO:0001841)|Notch signaling pathway (GO:0007219)|positive regulation of endocytosis (GO:0045807)|somitogenesis (GO:0001756)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			TGCTTAAAAGACCAGATGTGG	0.333																																																0													93	93	93					18																	19379923		2203	4300	6503	SO:0001819	synonymous_variant	57534			AB037744	CCDS11871.1	18q11.2	2014-09-17	2012-02-23		ENSG00000101752	ENSG00000101752		"Zinc fingers, ZZ-type", "Ankyrin repeat domain containing"	21086	protein-coding gene	gene with protein product		608677	"mindbomb homolog 1 (Drosophila)"				Standard	NM_020774		Approved	DIP-1, MIB, KIAA1323, ZZANK2, ZZZ6	uc002ktq.3	Q86YT6	OTTHUMG00000131753	ENST00000261537.6:c.1359A>G	18.37:g.19379923A>G			B0YJ38|Q2TB37|Q68D01|Q6YI51|Q8NBY0|Q8TCB5|Q8TCL7|Q9P2M3	Silent	SNP	ENST00000261537.6	37	CCDS11871.1																																																																																				0.333	MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254675.1	NM_020774		G	19379923	A	G	19379923	2	3	699	1	0	0	0	0	0	0	0	1	9568	272	10	3		3	MIB1	18	19379923	Silent	SNP	A	TCGA-KL-8330-01A-11D-2310-10		19379923	58697325	65	38870											
ABCA7	10347	ucsc.edu	37	19	1047002	1047002	+	Silent	SNP	A	A	G	rs3752234	byFrequency	TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr19:1047002A>G	ENST00000263094.6	+	14	2055	c.1824A>G	c.(1822-1824)gcA>gcG	p.A608A	ABCA7_ENST00000435683.2_Silent_p.A470A|ABCA7_ENST00000533574.1_Intron|ABCA7_ENST00000433129.1_Silent_p.A608A	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	608					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)		TCAGCGCCGCACTGCTGGTTC	0.726													G|||	2899	0.578874	0.4637	0.7104	5008	,	,		13766	0.75		0.5199	False		,,,				2504	0.5256															0										2219,2141		606,1007,567	14	13	13		1824	-2.7	0.3	19	dbSNP_107	13	4663,3873		1348,1967,953	no	coding-synonymous	ABCA7	NM_019112.3		1954,2974,1520	GG,GA,AA		45.3725,49.1055,46.6346		608/2147	1047002	6882,6014	2180	4268	6448	SO:0001819	synonymous_variant	10347			AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"ATP binding cassette transporters / subfamily A"	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.1824A>G	19.37:g.1047002A>G			Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Silent	SNP	ENST00000263094.6	37	CCDS12055.1																																																																																				0.726	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		G	1047002	A	G	1047002	2	3	699	1	0	0	0	0	0	0	0	1	37	146	6	3		3	ABCA7	19	1047002	Silent	SNP	A	TCGA-KL-8330-01A-11D-2310-10		1047002	58081981	66	38871											
MUC16	94025	mdanderson.org	37	19	9054242	9054242	+	Silent	SNP	A	A	G			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr19:9054242A>G	ENST00000397910.4	-	4	31583	c.31380T>C	c.(31378-31380)agT>agC	p.S10460S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10462	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						TACCTTTAGGACTGGCAGGCG	0.443																																																0													135	147	143					19																	9054242		1950	4152	6102	SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.31380T>C	19.37:g.9054242A>G			Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																				0.443	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		G	9054242	A	G	9054242	2	3	699	1	0	0	0	0	0	0	0	1	9975	272	10	3		3	MUC16	19	9054242	Silent	SNP	A	TCGA-KL-8330-01A-11D-2310-10	8007240	9054242	50074741	67	38872											
PSG2	5670	mdanderson.org	37	19	43585274	43585274	+	Silent	SNP	A	A	G			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr19:43585274A>G	ENST00000406487.1	-	2	287	c.189T>C	c.(187-189)acT>acC	p.T63T	PSG2_ENST00000491995.1_5'Flank	NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	63	Ig-like V-type.				cell migration (GO:0016477)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				AGATGTAGCCAGTAAGATTCT	0.453																																																0													112	115	114					19																	43585274		2203	4296	6499	SO:0001819	synonymous_variant	5670				CCDS12616.1	19q13.1-q13.2	2013-01-29			ENSG00000242221	ENSG00000242221		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9519	protein-coding gene	gene with protein product	"pregnancy-specific beta-1 glycoprotein", "pregnancy-specific beta-1-glycoprotein 7", "carcinoembryonic antigen SG8"	176391		PSBG2		2377620	Standard	NM_031246		Approved	PSGGB, PSG1, CEA	uc002ovr.3	P11465	OTTHUMG00000151547	ENST00000406487.1:c.189T>C	19.37:g.43585274A>G			Q8TCD9|Q9UEA4|Q9UQ78	Silent	SNP	ENST00000406487.1	37	CCDS12616.1																																																																																				0.453	PSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323083.1	NM_031246		G	43585274	A	G	43585274	2	3	699	1	0	0	0	0	0	0	0	1	12660	175	7	3		3	PSG2	19	43585274	Silent	SNP	A	TCGA-KL-8330-01A-11D-2310-10	34531032	43585274	15543709	68	38873											
ELSPBP1	64100	mdanderson.org;bcgsc.ca	37	19	48525507	48525507	+	Missense_Mutation	SNP	G	G	A	rs2303690	byFrequency	TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr19:48525507G>A	ENST00000339841.2	+	6	773	c.595G>A	c.(595-597)Gaa>Aaa	p.E199K	ELSPBP1_ENST00000597519.1_Missense_Mutation_p.E51K	NM_022142.4	NP_071425.3	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1	199	Fibronectin type-II 4. {ECO:0000255|PROSITE-ProRule:PRU00479}.		E -> K (in dbSNP:rs2303690). {ECO:0000269|PubMed:11144225, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.2}.		single fertilization (GO:0007338)	extracellular region (GO:0005576)				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		CTGCACTAACGAAGGATCAAA	0.458													a|||	3432	0.685304	0.6672	0.719	5008	,	,		21670	0.8671		0.5696	False		,,,				2504	0.6176															0								A	LYS/GLU	2699,1707	514.5+/-368.7	854,991,358	172	160	164		595	1.5	0	19	dbSNP_100	164	4879,3721	530.3+/-381.8	1393,2093,814	yes	missense	ELSPBP1	NM_022142.4	56	2247,3084,1172	AA,AG,GG		43.2674,38.7426,41.7346	benign	199/224	48525507	7578,5428	2203	4300	6503	SO:0001583	missense	64100			AJ278478	CCDS12708.1	19q13.33	2009-09-17							14417	protein-coding gene	gene with protein product	"epididymal protein 12"	607443					Standard	NM_022142		Approved	HE12, E12, EDDM12	uc002pht.3	Q96BH3		ENST00000339841.2:c.595G>A	19.37:g.48525507G>A	ENSP00000340660:p.Glu199Lys		Q96RT0|Q9H4C8	Missense_Mutation	SNP	ENST00000339841.2	37	CCDS12708.1	1512	0.6923076923076923	325	0.6605691056910569	242	0.6685082872928176	497	0.8688811188811189	448	0.5910290237467019	A	1.554	-0.538579	0.04053	0.612574	0.567326	ENSG00000169393	ENST00000339841	T	0.52295	0.67	3.66	1.54	0.23209	Fibronectin, type II, collagen-binding (5);Kringle-like fold (1);	0.248846	0.28031	N	0.016863	T	0.00012	0.0000	N	0.20401	0.57	0.80722	P	0.0	B	0.14805	0.011	B	0.15870	0.014	T	0.44651	-0.9314	9	0.02654	T	1	.	3.8049	0.08773	0.4456:0.2051:0.3493:0.0	rs2303690;rs17845467;rs17858345;rs59769918;rs2303690	199	Q96BH3	ESPB1_HUMAN	K	199	ENSP00000340660:E199K	ENSP00000340660:E199K	E	+	1	0	ELSPBP1	53217319	0.439000	0.25610	0.044000	0.18714	0.012000	0.07955	0.521000	0.22893	0.108000	0.17862	-0.308000	0.09152	GAA		0.458	ELSPBP1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465207.1			A	48525507	G	A	48525507	3	1	699	1	0	0	0	0	1	0	0	0	5085	1059	37	1	613	1	ELSPBP1	19	48525507	Missense_Mutation	SNP	G	TCGA-KL-8330-01A-11D-2310-10	4940233	48525507	10603476	69	38874											
ZNF415	55786	broad.mit.edu	37	19	53619570	53619570	+	Missense_Mutation	SNP	G	G	T			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr19:53619570G>T	ENST00000455735.2	-	4	390	c.70C>A	c.(70-72)Cct>Act	p.P24T	ZNF415_ENST00000595193.1_Silent_p.S44S|ZNF415_ENST00000448501.1_Missense_Mutation_p.P24T|ZNF415_ENST00000596683.1_5'UTR|ZNF415_ENST00000599261.1_Silent_p.S44S|ZNF415_ENST00000421033.1_Missense_Mutation_p.P24T|ZNF415_ENST00000601215.1_Intron|ZNF415_ENST00000597503.1_Silent_p.S44S|ZNF415_ENST00000500065.4_Silent_p.S44S|ZNF415_ENST00000594011.1_Silent_p.S44S|ZNF415_ENST00000595813.1_Silent_p.S44S|ZNF415_ENST00000440291.1_5'UTR|ZNF415_ENST00000597748.1_Silent_p.S44S|ZNF415_ENST00000243643.4_Silent_p.S44S|ZNF415_ENST00000600574.1_Silent_p.S44S|ZNF415_ENST00000601493.1_Intron			Q09FC8	ZN415_HUMAN	zinc finger protein 415	24					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		CCTCACCCAGGGAGACCAGGT	0.468																																																0													112	113	113					19																	53619570		2203	4300	6503	SO:0001583	missense	55786			AK002053	CCDS12860.1, CCDS54313.1	19q13.42	2014-03-18			ENSG00000170954	ENSG00000170954		"Zinc fingers, C2H2-type", "-"	20636	protein-coding gene	gene with protein product						14702039	Standard	NM_001136038		Approved		uc002qaw.3	Q09FC8	OTTHUMG00000182865	ENST00000455735.2:c.70C>A	19.37:g.53619570G>T	ENSP00000388787:p.Pro24Thr		F5H287|Q09FC7|Q09FC9|Q09FD0|Q6NSZ2|Q6P3S0|Q9NUR2	Silent	SNP	ENST00000455735.2	37		.	.	.	.	.	.	.	.	.	.	G	15.11	2.736104	0.49045	.	.	ENSG00000170954	ENST00000448501;ENST00000421033;ENST00000455735	T;T;T	0.21191	2.51;2.02;2.51	2.95	-0.803	0.10886	.	.	.	.	.	T	0.12689	0.0308	.	.	.	0.28510	N	0.913607	P;P;P	0.46512	0.808;0.808;0.879	B;B;B	0.36885	0.118;0.118;0.235	T	0.19321	-1.0309	8	0.87932	D	0	.	5.3206	0.15879	0.4892:0.0:0.5108:0.0	.	24;24;24	B3KTG1;Q09FC8;Q09FC8-2	.;ZN415_HUMAN;.	T	24	ENSP00000396492:P24T;ENSP00000395055:P24T;ENSP00000388787:P24T	ENSP00000395055:P24T	P	-	1	0	ZNF415	58311382	0.000000	0.05858	0.866000	0.34008	0.950000	0.60333	-2.807000	0.00757	0.056000	0.16144	0.462000	0.41574	CCT		0.468	ZNF415-204	KNOWN	basic	protein_coding	protein_coding		NM_018355		T	53619570	G	T	53619570	3	4	699	1	0	0	0	0	1	0	0	0	17897	1219	43	4	1543	4	ZNF415	19	53619570	Missense_Mutation	SNP	G	TCGA-KL-8330-01A-11D-2310-10	5094063	53619570	5509413	70	38875											
EPS8L1	54869	hgsc.bcm.edu;bcgsc.ca	37	19	55598783	55598783	+	Missense_Mutation	SNP	G	G	T			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr19:55598783G>T	ENST00000201647.6	+	19	2121	c.2065G>T	c.(2065-2067)Gtg>Ttg	p.V689L	EPS8L1_ENST00000586329.1_Intron|EPS8L1_ENST00000245618.5_Missense_Mutation_p.V562L|EPS8L1_ENST00000588359.1_Missense_Mutation_p.V375L|EPS8L1_ENST00000540810.1_Missense_Mutation_p.V625L	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	689					positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|T cell receptor binding (GO:0042608)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CCAGGTCACCGTGCAGCGCTC	0.677																																					Ovarian(149;255 1863 3636 27051 29647)											0													59	61	60					19																	55598783		2203	4299	6502	SO:0001583	missense	54869			AK057052	CCDS12914.1, CCDS12915.1	19q13.42	2008-02-05				ENSG00000131037			21295	protein-coding gene	gene with protein product		614987				12620401	Standard	NM_133180		Approved	FLJ20258, DRC3, MGC23164, MGC4642	uc002qis.4	Q8TE68		ENST00000201647.6:c.2065G>T	19.37:g.55598783G>T	ENSP00000201647:p.Val689Leu		Q71RE2|Q8NC10|Q96BB7|Q9BSQ2|Q9GZQ2|Q9NXH0	Missense_Mutation	SNP	ENST00000201647.6	37	CCDS12914.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.754167	0.89843	.	.	ENSG00000131037	ENST00000201647;ENST00000540810;ENST00000245618;ENST00000539118	T;T;T	0.27720	1.65;1.65;1.65	3.79	3.79	0.43588	.	0.073437	0.52532	D	0.000063	T	0.47173	0.1431	L	0.51914	1.62	0.58432	D	0.999999	D;D;P	0.67145	0.996;0.992;0.941	D;P;P	0.79108	0.992;0.875;0.72	T	0.37526	-0.9702	10	0.37606	T	0.19	-25.4363	13.9264	0.63966	0.0:0.0:1.0:0.0	.	468;562;689	Q8TE68-4;Q8TE68-2;Q8TE68	.;.;ES8L1_HUMAN	L	689;625;562;375	ENSP00000201647:V689L;ENSP00000437541:V625L;ENSP00000245618:V562L	ENSP00000201647:V689L	V	+	1	0	EPS8L1	60290595	1.000000	0.71417	0.910000	0.35882	0.600000	0.36913	5.846000	0.69444	2.060000	0.61445	0.313000	0.20887	GTG		0.677	EPS8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451713.1	NM_017729		T	55598783	G	T	55598783	3	4	699	1	0	0	0	0	1	0	0	0	5197	1145	40	4	2187	4	EPS8L1	19	55598783	Missense_Mutation	SNP	G	TCGA-KL-8330-01A-11D-2310-10	1979213	55598783	3530200	71	38876											
B4GALT5	9334	ucsc.edu	37	20	48330133	48330133	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr20:48330133A>G	ENST00000371711.4	-	1	282	c.95T>C	c.(94-96)gTc>gCc	p.V32A		NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5	32					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)|protein N-linked glycosylation via asparagine (GO:0018279)|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)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			CGCCACATAGACGAAGTACAG	0.706																																																0													9	12	11					20																	48330133		2165	4274	6439	SO:0001583	missense	9334			AB004550	CCDS13420.1	20q13.1-q13.2	2013-02-19			ENSG00000158470	ENSG00000158470		"Beta 4-glycosyltransferases"	928	protein-coding gene	gene with protein product	"beta4-GalT IV"	604016				9597550, 9435216	Standard	NM_004776		Approved	beta4GalT-V	uc002xuu.4	O43286	OTTHUMG00000033086	ENST00000371711.4:c.95T>C	20.37:g.48330133A>G	ENSP00000360776:p.Val32Ala		E1P625|Q2M394|Q9UJQ8	Missense_Mutation	SNP	ENST00000371711.4	37	CCDS13420.1	.	.	.	.	.	.	.	.	.	.	A	12.88	2.071871	0.36566	.	.	ENSG00000158470	ENST00000371711	T	0.43688	0.94	2.7	2.7	0.31948	.	0.229171	0.36854	U	0.002371	T	0.30479	0.0766	L	0.36672	1.1	0.35194	D	0.773674	B	0.09022	0.002	B	0.08055	0.003	T	0.32666	-0.9898	10	0.39692	T	0.17	-1.105	9.6737	0.40028	1.0:0.0:0.0:0.0	.	32	O43286	B4GT5_HUMAN	A	32	ENSP00000360776:V32A	ENSP00000360776:V32A	V	-	2	0	B4GALT5	47763540	1.000000	0.71417	1.000000	0.80357	0.556000	0.35491	1.967000	0.40491	1.098000	0.41479	0.164000	0.16699	GTC		0.706	B4GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080543.3	NM_004776		G	48330133	A	G	48330133	3	3	699	1	0	0	0	0	1	0	0	0	1274	275	10	3	1107	3	B4GALT5	20	48330133	Missense_Mutation	SNP	A	TCGA-KL-8330-01A-11D-2310-10		48330133	14695387	72	38877											
SLCO4A1	28231	broad.mit.edu	37	20	61292501	61292501	+	Missense_Mutation	SNP	T	T	G			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr20:61292501T>G	ENST00000370507.1	+	4	1191	c.1095T>G	c.(1093-1095)ttT>ttG	p.F365L	RP11-93B14.5_ENST00000433126.1_RNA|SLCO4A1_ENST00000217159.1_Missense_Mutation_p.F365L|RP11-93B14.5_ENST00000411824.1_RNA|RP11-93B14.5_ENST00000451648.1_RNA			Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	365					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)	ACCCGGACTTTGGGAAAACCA	0.597																																					Pancreas(168;741 2006 10379 40139 45334)											0													79	71	74					20																	61292501		2203	4300	6503	SO:0001583	missense	28231			AB031051	CCDS13501.1	20q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000101187	ENSG00000101187		"Solute carriers"	10953	protein-coding gene	gene with protein product		612436	"solute carrier family 21 (organic anion transporter), member 12"	SLC21A12		10873595	Standard	NM_016354		Approved	OATP-E, OATP4A1	uc002ydb.1	Q96BD0	OTTHUMG00000032923	ENST00000370507.1:c.1095T>G	20.37:g.61292501T>G	ENSP00000359538:p.Phe365Leu		Q9H4T7|Q9H4T8|Q9H8P2|Q9NWX8|Q9UI35|Q9UIG7	Missense_Mutation	SNP	ENST00000370507.1	37	CCDS13501.1	.	.	.	.	.	.	.	.	.	.	t	10.30	1.313437	0.23908	.	.	ENSG00000101187	ENST00000217159;ENST00000370512;ENST00000370507	T;T	0.38077	1.16;1.16	4.25	0.186	0.15105	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.22513	0.0543	L	0.28694	0.88	0.44092	D	0.996859	B	0.09022	0.002	B	0.20384	0.029	T	0.10660	-1.0620	10	0.16896	T	0.51	.	10.1154	0.42587	0.0:0.169:0.0:0.831	.	365	Q96BD0	SO4A1_HUMAN	L	365	ENSP00000217159:F365L;ENSP00000359538:F365L	ENSP00000217159:F365L	F	+	3	2	SLCO4A1	60762946	0.985000	0.35326	0.380000	0.26093	0.056000	0.15407	0.095000	0.15127	-0.276000	0.09206	-0.404000	0.06349	TTT		0.597	SLCO4A1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080048.2	NM_016354		G	61292501	T	G	61292501	3	3	699	1	0	0	0	0	1	0	0	0	14735	1809	63	5	1109	5	SLCO4A1	20	61292501	Missense_Mutation	SNP	T	TCGA-KL-8330-01A-11D-2310-10	12962368	61292501	1733019	73	38878											
GSC2	2928	hgsc.bcm.edu;mdanderson.org	37	22	19137290	19137290	+	Silent	SNP	G	G	A	rs201641909	byFrequency	TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr22:19137290G>A	ENST00000086933.2	-	2	398	c.399C>T	c.(397-399)ttC>ttT	p.F133F		NM_005315.1	NP_005306.1	O15499	GSC2_HUMAN	goosecoid homeobox 2	133					anatomical structure morphogenesis (GO:0009653)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(1)|lung(2)	4	Colorectal(54;0.0993)					GCTCTTCGCTGAAGATGGTGC	0.716													g|||	8	0.00159744	0.0053	0.0014	5008	,	,		8606	0.0		0.0	False		,,,				2504	0.0															0										4,4216		0,4,2106	8	10	10		399	3.5	1	22		10	0,8348		0,0,4174	no	coding-synonymous	GSC2	NM_005315.1		0,4,6280	AA,AG,GG		0.0,0.0948,0.0318		133/206	19137290	4,12564	2110	4174	6284	SO:0001819	synonymous_variant	2928				CCDS13757.1	22q11.21	2011-06-20	2007-08-28	2007-08-28	ENSG00000063515	ENSG00000063515		"Homeoboxes / PRD class"	4613	protein-coding gene	gene with protein product		601845	"goosecoid-like"	GSCL		9150167	Standard	NM_005315		Approved		uc011ags.2	O15499	OTTHUMG00000150122	ENST00000086933.2:c.399C>T	22.37:g.19137290G>A				Silent	SNP	ENST00000086933.2	37	CCDS13757.1																																																																																				0.716	GSC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316440.2	NM_005315		A	19137290	G	A	19137290	2	1	699	1	0	0	0	0	0	0	0	1	6817	1281	45	2		2	GSC2	22	19137290	Silent	SNP	G	TCGA-KL-8330-01A-11D-2310-10		19137290	32167276	74	38879											
DMD	1756	broad.mit.edu;bcgsc.ca	37	X	32408279	32408279	+	Missense_Mutation	SNP	G	G	T			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chrX:32408279G>T	ENST00000357033.4	-	31	4459	c.4253C>A	c.(4252-4254)aCa>aAa	p.T1418K	DMD_ENST00000378677.2_Missense_Mutation_p.T1414K	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	1418	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.T1414R(1)|p.T77R(1)|p.T1418R(1)|p.T1413R(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)				CTCATGACTTGTCAAATCAGA	0.388																																																4	Substitution - Missense(4)	lung(4)											133	106	115					X																	32408279		2202	4300	6502	SO:0001583	missense	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.4253C>A	X.37:g.32408279G>T	ENSP00000354923:p.Thr1418Lys		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.887785	0.52014	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.20738	2.05;2.05	5.77	5.77	0.91146	.	0.000000	0.38058	U	0.001840	T	0.19446	0.0467	L	0.44542	1.39	0.80722	D	1	P;B;P;P;P	0.45827	0.867;0.014;0.791;0.596;0.596	B;B;B;B;B	0.42282	0.382;0.008;0.212;0.154;0.154	T	0.02484	-1.1152	10	0.19147	T	0.46	.	12.5325	0.56124	0.0781:0.0:0.9219:0.0	.	1410;1418;1414;77;74	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	K	1410;77;74;1414;1418;1418;1295	ENSP00000367948:T1414K;ENSP00000354923:T1418K	ENSP00000354923:T1418K	T	-	2	0	DMD	32318200	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.241000	0.51376	2.557000	0.86248	0.594000	0.82650	ACA		0.388	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		T	32408279	G	T	32408279	3	4	699	1	0	0	0	0	1	0	0	0	4582	1377	48	4	7148	4	DMD	23	32408279	Missense_Mutation	SNP	G	TCGA-KL-8330-01A-11D-2310-10		32408279	122862281	75	38880											
THOC2	57187	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	X	122759902	122759902	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chrX:122759902G>A	ENST00000245838.8	-	25	2949	c.2918C>T	c.(2917-2919)aCc>aTc	p.T973I	THOC2_ENST00000491737.1_Missense_Mutation_p.T858I|THOC2_ENST00000355725.4_Missense_Mutation_p.T973I	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	973					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						TTTTGTGATGGTCTCATTTTT	0.343																																																0													68	59	62					X																	122759902		1805	4069	5874	SO:0001583	missense	57187			AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"THO complex subunits"	19073	protein-coding gene	gene with protein product		300395	"chromosome X open reading frame 3"	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.2918C>T	X.37:g.122759902G>A	ENSP00000245838:p.Thr973Ile		A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	ENST00000245838.8	37	CCDS43988.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.220729	0.79464	.	.	ENSG00000125676	ENST00000245838;ENST00000355725;ENST00000491737	T;T;T	0.22539	1.95;1.95;1.95	5.83	5.83	0.93111	THO complex, subunitTHOC2, C-terminal (1);	0.000000	0.64402	D	0.000001	T	0.41949	0.1181	L	0.61036	1.89	0.80722	D	1	D	0.59767	0.986	P	0.60609	0.877	T	0.04900	-1.0919	10	0.27785	T	0.31	-5.9519	19.0992	0.93266	0.0:0.0:1.0:0.0	.	973	Q8NI27	THOC2_HUMAN	I	973;973;858	ENSP00000245838:T973I;ENSP00000347959:T973I;ENSP00000419795:T858I	ENSP00000245838:T973I	T	-	2	0	THOC2	122587583	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.810000	0.99221	2.460000	0.83146	0.600000	0.82982	ACC		0.343	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3			A	122759902	G	A	122759902	3	1	699	1	0	0	0	0	1	0	0	0	15870	1261	44	2	1919	2	THOC2	23	122759902	Missense_Mutation	SNP	G	TCGA-KL-8330-01A-11D-2310-10	90351623	122759902	32510658	76	38881											
RBMX	27316	hgsc.bcm.edu	37	X	135956574	135956574	+	Silent	SNP	C	C	G			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chrX:135956574C>G	ENST00000320676.7	-	9	1057	c.903G>C	c.(901-903)ccG>ccC	p.P301P	RBMX_ENST00000570135.1_Silent_p.P166P|RBMX_ENST00000431446.3_Intron|RBMX_ENST00000562646.1_3'UTR|RBMX_ENST00000565438.1_Silent_p.P173P|RBMX_ENST00000496459.2_5'Flank	NM_002139.3	NP_002130.2	P38159	RBMX_HUMAN	RNA binding motif protein, X-linked	301					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)					CATAAGATGGCGGGGGCCCTC	0.463																																																0													92	86	88					X																	135956574		2203	4300	6503	SO:0001819	synonymous_variant	27316				CCDS14661.1, CCDS55510.1	Xq26	2013-05-23	2003-09-12		ENSG00000147274	ENSG00000147274		"RNA binding motif (RRM) containing"	9910	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein G"	300199	"RNA binding motif protein, X chromosome"			10391206, 10391207	Standard	NM_002139		Approved	RNMX, hnRNP-G, HNRNPG	uc004fae.2	P38159	OTTHUMG00000022517	ENST00000320676.7:c.903G>C	X.37:g.135956574C>G			B4E3U4|D3DWH0|E9PG86|Q5JQ67|Q8N8Y7|Q969R3	Silent	SNP	ENST00000320676.7	37	CCDS14661.1																																																																																				0.463	RBMX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058507.1	NM_002139		G	135956574	C	G	135956574	2	3	699	1	0	0	0	0	0	0	0	1	13157	755	27	4		4	RBMX	23	135956574	Silent	SNP	C	TCGA-KL-8330-01A-11D-2310-10	13196672	135956574	19313986	77	38882											
MTM1	4534	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	X	149764981	149764981	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chrX:149764981A>G	ENST00000370396.2	+	3	137	c.83A>G	c.(82-84)aAt>aGt	p.N28S	MTM1_ENST00000542741.1_5'UTR|MTM1_ENST00000543350.1_5'UTR|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000413012.2_Missense_Mutation_p.N28S	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	28					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)					GATGGAGTCAATCGAGATCTC	0.418																																																0													143	113	123					X																	149764981		2203	4300	6503	SO:0001583	missense	4534			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.83A>G	X.37:g.149764981A>G	ENSP00000359423:p.Asn28Ser		A6NDB1|B7Z491|F2Z330|Q8NEL1	Missense_Mutation	SNP	ENST00000370396.2	37	CCDS14694.1	.	.	.	.	.	.	.	.	.	.	A	9.073	0.997307	0.19043	.	.	ENSG00000171100	ENST00000370396;ENST00000424519;ENST00000413012	D;D;D	0.95821	-3.82;-3.5;-3.82	5.68	-4.87	0.03123	.	0.547300	0.21719	N	0.070141	D	0.85186	0.5639	N	0.13235	0.315	0.19575	N	0.999969	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.74569	-0.3622	10	0.27785	T	0.31	.	5.7616	0.18203	0.4035:0.4309:0.0684:0.0973	.	28;28	B7Z491;Q13496	.;MTM1_HUMAN	S	28	ENSP00000359423:N28S;ENSP00000400699:N28S;ENSP00000389157:N28S	ENSP00000359423:N28S	N	+	2	0	MTM1	149515639	0.414000	0.25408	0.000000	0.03702	0.693000	0.40251	1.427000	0.34881	-0.704000	0.05042	-0.508000	0.04489	AAT		0.418	MTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060847.3	NM_000252		G	149764981	A	G	149764981	3	3	699	1	0	0	0	0	1	0	0	0	9939	101	4	3	89	3	MTM1	23	149764981	Missense_Mutation	SNP	A	TCGA-KL-8330-01A-11D-2310-10	13808407	149764981	5505579	78	38883											
C1orf177	163747	hgsc.bcm.edu	37	1	55273584	55273584	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr1:55273584delC	ENST00000371273.3	+	4	395	c.380delC	c.(379-381)tccfs	p.S127fs	C1orf177_ENST00000358193.3_Frame_Shift_Del_p.S127fs	NM_001110533.1	NP_001104003	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	127										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						GGCCCCGGCTCCTACAACCTC	0.552																																																0													71	81	78					1																	55273584		2203	4300	6503	SO:0001589	frameshift_variant	163747			AK097520	CCDS599.1, CCDS44153.1	1p32.3	2012-07-25			ENSG00000162398	ENSG00000162398			26854	protein-coding gene	gene with protein product							Standard	NM_152607		Approved	FLJ40201	uc001cyb.4	Q3ZCV2	OTTHUMG00000009986	ENST00000371273.3:c.380delC	1.37:g.55273584delC	ENSP00000360320:p.Ser127fs		B7WPL2|Q8N7Y9	Frame_Shift_Del	DEL	ENST00000371273.3	37	CCDS44153.1																																																																																				0.552	C1orf177-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000027674.1	NM_152607		-	55273584	C	-	55273584	7	5	700	1	0	1	0	1	0	0	0	0	2019	855	30	0	394	0	C1orf177	1	55273584	Frame_Shift_Del	DEL	C	TCGA-KL-8331-01A-11D-2310-10		55273584	193977037	1	38884											
PDE4DIP	9659	ucsc.edu;mdanderson.org;bcgsc.ca	37	1	144931626	144931626	+	Intron	SNP	T	T	C	rs79158320	byFrequency	TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr1:144931626T>C	ENST00000369354.3	-	6	826				PDE4DIP_ENST00000313431.9_Missense_Mutation_p.N28S|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.N28S			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein						cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AACCTGGAGATTGAGCTTGGA	0.567			T	PDGFRB	MPD								T|||	49	0.00978435	0.0325	0.0058	5008	,	,		34556	0.002		0.0	False		,,,				2504	0.0						Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0								T	SER/ASN,,,,	128,4278	84.4+/-122.9	0,128,2075	65	65	65		83,,,,	5.3	1	1	dbSNP_131	65	3,8597	2.2+/-6.3	0,3,4297	yes	missense,intron,intron,intron,intron	PDE4DIP	NM_001002811.1,NM_001002812.1,NM_001198832.1,NM_001198834.2,NM_014644.4	46,,,,	0,131,6372	CC,CT,TT		0.0349,2.9051,1.0072	,,,,	28/1133,,,,	144931626	131,12875	2203	4300	6503	SO:0001627	intron_variant	9659			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.637-7805A>G	1.37:g.144931626T>C			A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	CCDS30824.1	22	0.010073260073260074	19	0.03861788617886179	1	0.0027624309392265192	2	0.0034965034965034965	0	0.0	T	14.81	2.646949	0.47258	0.029051	3.49E-4	ENSG00000178104	ENST00000369353;ENST00000313431;ENST00000529945	T;T	0.14144	2.53;2.53	5.3	5.3	0.74995	.	.	.	.	.	T	0.08846	0.0219	L	0.42245	1.32	0.80722	D	1	P	0.51537	0.946	P	0.50270	0.636	T	0.19712	-1.0297	9	0.12103	T	0.63	.	13.1866	0.59684	0.0:0.0:0.0:1.0	.	28	Q5VU43-2	.	S	28	ENSP00000316434:N28S;ENSP00000433392:N28S	ENSP00000316434:N28S	N	-	2	0	PDE4DIP	143642983	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	4.031000	0.57267	1.996000	0.58369	0.379000	0.24179	AAT		0.567	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		C	144931626	T	C	144931626	1	2	700	0	1	0	0	0	0	0	0	0	11645	1493	52	3		3	PDE4DIP	1	144931626	Intron	SNP	T	TCGA-KL-8331-01A-11D-2310-10	89658042	144931626	104318995	2	38885											
DTL	51514	ucsc.edu	37	1	212254059	212254059	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr1:212254059T>C	ENST00000366991.4	+	13	1542	c.1228T>C	c.(1228-1230)Tct>Cct	p.S410P	DTL_ENST00000475419.1_3'UTR|DTL_ENST00000542077.1_Missense_Mutation_p.S368P	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN	denticleless E3 ubiquitin protein ligase homolog (Drosophila)	410					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|regulation of cell cycle (GO:0051726)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|chromosome (GO:0005694)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		GGGTTGGGCCTCTCAGAAGAA	0.418																																																0													123	134	131					1																	212254059		2203	4300	6503	SO:0001583	missense	51514			AF195765	CCDS1502.1, CCDS65778.1	1q32	2013-01-10	2012-02-23		ENSG00000143476	ENSG00000143476		"DDB1 and CUL4 associated factors", "WD repeat domain containing"	30288	protein-coding gene	gene with protein product	"RA regulated nuclear matrix associated protein", "DDB1 and CUL4 associated factor 2"	610617	"denticleless homolog (Drosophila)"			11278750	Standard	NM_001286229		Approved	RAMP, L2DTL, DCAF2	uc009xdc.3	Q9NZJ0	OTTHUMG00000037133	ENST00000366991.4:c.1228T>C	1.37:g.212254059T>C	ENSP00000355958:p.Ser410Pro		A8K8H8|D3DT98|Q5VT77|Q96SN0|Q9NW03|Q9NW34|Q9NWM5	Missense_Mutation	SNP	ENST00000366991.4	37	CCDS1502.1	.	.	.	.	.	.	.	.	.	.	T	17.64	3.439703	0.63067	.	.	ENSG00000143476	ENST00000366991;ENST00000542077;ENST00000420235	T;T	0.71341	-0.49;-0.56	5.27	5.27	0.74061	.	0.659654	0.16073	N	0.230900	T	0.57198	0.2037	L	0.36672	1.1	0.32356	N	0.557877	P;P;P	0.39717	0.684;0.682;0.627	B;B;B	0.37144	0.242;0.239;0.184	T	0.59611	-0.7422	10	0.02654	T	1	-39.257	14.4635	0.67467	0.0:0.0:0.0:1.0	.	368;410;368	F5GZ90;Q9NZJ0;B4E0E6	.;DTL_HUMAN;.	P	410;368;89	ENSP00000355958:S410P;ENSP00000443870:S368P	ENSP00000355958:S410P	S	+	1	0	DTL	210320682	0.999000	0.42202	1.000000	0.80357	0.977000	0.68977	2.100000	0.41777	2.124000	0.65301	0.529000	0.55759	TCT		0.418	DTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090182.1	NM_016448		C	212254059	T	C	212254059	3	2	700	1	0	0	0	0	1	0	0	0	4789	1551	54	3	1278	3	DTL	1	212254059	Missense_Mutation	SNP	T	TCGA-KL-8331-01A-11D-2310-10	67322433	212254059	36996562	3	38886											
POTEF	728378	hgsc.bcm.edu;mdanderson.org	37	2	130832597	130832597	+	Silent	SNP	G	G	A	rs562326654		TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr2:130832597G>A	ENST00000409914.2	-	17	2847	c.2448C>T	c.(2446-2448)cgC>cgT	p.R816R	POTEF_ENST00000357462.5_Silent_p.R816R	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	816	Actin-like.				retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TCATCTTCTCGCGGTTGGCCT	0.592													.|||	1	0.000199681	0.0	0.0	5008	,	,		20870	0.001		0.0	False		,,,				2504	0.0															0													117	129	125					2																	130832597		2203	4300	6503	SO:0001819	synonymous_variant	728378			EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33905	protein-coding gene	gene with protein product			"ANKRD26-like family C, member 1B"	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.2448C>T	2.37:g.130832597G>A			A6NC34	Silent	SNP	ENST00000409914.2	37	CCDS46409.1																																																																																				0.592	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		A	130832597	G	A	130832597	2	1	700	1	0	0	0	0	0	0	0	1	12267	1074	38	1		1	POTEF	2	130832597	Silent	SNP	G	TCGA-KL-8331-01A-11D-2310-10		130832597	112366776	4	38887											
SCN2A	6326	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	2	166211041	166211041	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr2:166211041G>A	ENST00000375437.2	+	17	3549	c.3259G>A	c.(3259-3261)Gtg>Atg	p.V1087M	SCN2A_ENST00000375427.2_Missense_Mutation_p.V1087M|SCN2A_ENST00000283256.6_Missense_Mutation_p.V1087M|SCN2A_ENST00000357398.3_Missense_Mutation_p.V1087M	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1087					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)	AAAATATGTCGTGGATGAAAG	0.378																																																0													112	110	110					2																	166211041		2203	4300	6503	SO:0001583	missense	6326			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10588	protein-coding gene	gene with protein product		182390	"sodium channel, voltage-gated, type II, alpha 2 polypeptide", "sodium channel, voltage-gated, type II, alpha 1 polypeptide"	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.3259G>A	2.37:g.166211041G>A	ENSP00000364586:p.Val1087Met		A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	G	7.286	0.610124	0.14066	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72	5.26	4.26	0.50523	Sodium ion transport-associated (1);	0.221616	0.30979	N	0.008492	T	0.61874	0.2382	N	0.02765	-0.5	0.35063	D	0.761745	B;B	0.14012	0.009;0.008	B;B	0.19391	0.012;0.025	T	0.64188	-0.6466	10	0.25751	T	0.34	.	10.2776	0.43519	0.1701:0.0:0.8299:0.0	.	1087;1087	Q99250-2;Q99250	.;SCN2A_HUMAN	M	1087	ENSP00000364586:V1087M;ENSP00000349973:V1087M;ENSP00000283256:V1087M;ENSP00000364576:V1087M	ENSP00000283256:V1087M	V	+	1	0	SCN2A	165919287	0.995000	0.38212	0.987000	0.45799	0.994000	0.84299	2.576000	0.46033	2.447000	0.82792	0.591000	0.81541	GTG		0.378	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		A	166211041	G	A	166211041	3	1	700	1	0	0	0	0	1	0	0	0	13922	1145	40	1	3417	1	SCN2A	2	166211041	Missense_Mutation	SNP	G	TCGA-KL-8331-01A-11D-2310-10	35378444	166211041	76988332	5	38888											
ZFYVE28	57732	ucsc.edu;mdanderson.org	37	4	2307125	2307125	+	Silent	SNP	G	G	A	rs143836367	byFrequency	TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr4:2307125G>A	ENST00000290974.2	-	8	1281	c.942C>T	c.(940-942)ctC>ctT	p.L314L	RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000511071.1_Silent_p.L284L|ZFYVE28_ENST00000515312.1_Silent_p.L244L	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	314					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						CCTCAGGGGGGAGAGGGGCAG	0.662																																																0													39	42	41					4																	2307125		2203	4298	6501	SO:0001819	synonymous_variant	57732			AK126692	CCDS33942.1, CCDS54708.1, CCDS54709.1, CCDS54710.1, CCDS54711.1, CCDS54712.1	4p16.3	2008-05-02			ENSG00000159733	ENSG00000159733		"Zinc fingers, FYVE domain containing"	29334	protein-coding gene	gene with protein product		614176				10997877	Standard	NM_020972		Approved	KIAA1643	uc003gex.2	Q9HCC9	OTTHUMG00000160292	ENST00000290974.2:c.942C>T	4.37:g.2307125G>A			B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3	Silent	SNP	ENST00000290974.2	37	CCDS33942.1																																																																																				0.662	ZFYVE28-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360078.1	XM_035371		A	2307125	G	A	2307125	2	1	700	1	0	0	0	0	0	0	0	1	17675	1161	41	2		2	ZFYVE28	4	2307125	Silent	SNP	G	TCGA-KL-8331-01A-11D-2310-10		2307125	188847151	6	38889											
FGG	2266	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	4	155529663	155529663	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr4:155529663G>A	ENST00000336098.3	-	7	844	c.806C>T	c.(805-807)cCa>cTa	p.P269L	FGG_ENST00000405164.1_Missense_Mutation_p.P277L|FGG_ENST00000407946.1_Missense_Mutation_p.P277L|FGG_ENST00000404648.3_Missense_Mutation_p.P269L	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	269	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TAATGCATATGGGATGGCAGA	0.403																																																0													93	84	87					4																	155529663		2203	4300	6503	SO:0001583	missense	2266				CCDS3788.1, CCDS47153.1	4q28	2014-09-17			ENSG00000171557	ENSG00000171557		"Fibrinogen C domain containing", "Endogenous ligands"	3694	protein-coding gene	gene with protein product		134850	"fibrinogen, gamma polypeptide"				Standard	NM_000509		Approved		uc003ioj.3	P02679	OTTHUMG00000150329	ENST00000336098.3:c.806C>T	4.37:g.155529663G>A	ENSP00000336829:p.Pro269Leu		A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Missense_Mutation	SNP	ENST00000336098.3	37	CCDS3788.1	.	.	.	.	.	.	.	.	.	.	G	33	5.268247	0.95429	.	.	ENSG00000171557	ENST00000404648;ENST00000405164;ENST00000336098;ENST00000407946	D;D;D;D	0.97303	-4.33;-4.33;-4.33;-4.33	6.17	6.17	0.99709	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.85682	D	0.000000	D	0.98513	0.9504	M	0.78344	2.41	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;1.0;1.0;1.0	D	0.98818	1.0746	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	166;277;269;277;269	D3DP16;C9JC84;P02679;C9JEU5;P02679-2	.;.;FIBG_HUMAN;.;.	L	269;277;269;277	ENSP00000384860:P269L;ENSP00000384101:P277L;ENSP00000336829:P269L;ENSP00000384552:P277L	ENSP00000336829:P269L	P	-	2	0	FGG	155749113	1.000000	0.71417	0.998000	0.56505	0.892000	0.51952	9.199000	0.95003	2.941000	0.99782	0.655000	0.94253	CCA		0.403	FGG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317581.1	NM_021870		A	155529663	G	A	155529663	3	1	700	1	0	0	0	0	1	0	0	0	5872	1348	47	2	586	2	FGG	4	155529663	Missense_Mutation	SNP	G	TCGA-KL-8331-01A-11D-2310-10	153222538	155529663	35624613	7	38890											
LMBRD2	92255	broad.mit.edu	37	5	36123063	36123063	+	Splice_Site	DEL	A	A	-			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr5:36123063delA	ENST00000296603.4	-	8	1285	c.823delT	c.(823-825)tgc>gc	p.C275fs		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	275						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)			TCTGTAGGGCACtaaaaaaaa	0.249																																																0													40	43	42					5																	36123063		2200	4285	6485	SO:0001630	splice_region_variant	92255				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.823-1T>-	5.37:g.36123063delA			B3KRB6|Q9NTC7	Frame_Shift_Del	DEL	ENST00000296603.4	37	CCDS34145.1																																																																																				0.249	LMBRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367552.1	NM_001007527	Frame_Shift_Del	-	36123063	A	-	36123063	8	5	700	1	0	1	0	1	0	0	1	0	8845	173	6	0	1308	0	LMBRD2	5	36123063	Splice_Site	DEL	A	TCGA-KL-8331-01A-11D-2310-10		36123063	144792197	8	38891											
SLC30A5	64924	broad.mit.edu	37	5	68390134	68390134	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr5:68390134delG	ENST00000396591.3	+	1	662	c.52delG	c.(52-54)ggcfs	p.G18fs	SLC30A5_ENST00000502979.1_Frame_Shift_Del_p.G18fs|SLC30A5_ENST00000380860.4_Frame_Shift_Del_p.G18fs	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	18	Poly-Gly.				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)		cggcggcggcggccTTGGGCC	0.741																																																0													2	4	3					5																	68390134		1267	2522	3789	SO:0001589	frameshift_variant	64924			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.52delG	5.37:g.68390134delG	ENSP00000379836:p.Gly18fs		B7ZM89|Q6UX54|Q7L4M4|Q8TDG3|Q9BVY8|Q9H9H1	Frame_Shift_Del	DEL	ENST00000396591.3	37	CCDS3996.1																																																																																				0.741	SLC30A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254017.2			-	68390134	G	-	68390134	7	5	700	1	0	1	0	1	0	0	0	0	14564	1116	39	0	54	0	SLC30A5	5	68390134	Frame_Shift_Del	DEL	G	TCGA-KL-8331-01A-11D-2310-10	32267071	68390134	112525126	9	38892											
HAPLN1	1404	bcgsc.ca	37	5	82937410	82937410	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr5:82937410G>A	ENST00000274341.4	-	5	1820	c.970C>T	c.(970-972)Cgc>Tgc	p.R324C		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	324	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)	GGACTGCAGCGCCTTCTTGGC	0.532																																																0													107	113	111					5																	82937410		2203	4300	6503	SO:0001583	missense	1404				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.970C>T	5.37:g.82937410G>A	ENSP00000274341:p.Arg324Cys		B2R9A9	Missense_Mutation	SNP	ENST00000274341.4	37	CCDS4061.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.215621	0.39102	.	.	ENSG00000145681	ENST00000274341	T	0.31769	1.48	5.22	5.22	0.72569	C-type lectin fold (1);Link (4);C-type lectin-like (1);	0.000000	0.85682	D	0.000000	T	0.60077	0.2241	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.65228	-0.6219	10	0.87932	D	0	.	19.1617	0.93535	0.0:0.0:1.0:0.0	.	324	P10915	HPLN1_HUMAN	C	324	ENSP00000274341:R324C	ENSP00000274341:R324C	R	-	1	0	HAPLN1	82973166	0.997000	0.39634	1.000000	0.80357	0.169000	0.22640	2.513000	0.45494	2.581000	0.87130	0.655000	0.94253	CGC		0.532	HAPLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239256.2	NM_001884		A	82937410	G	A	82937410	3	1	700	1	0	0	0	0	1	0	0	0	6956	1087	38	1	98	1	HAPLN1	5	82937410	Missense_Mutation	SNP	G	TCGA-KL-8331-01A-11D-2310-10	14547276	82937410	97977850	10	38893											
ANKRD43	134548	broad.mit.edu	37	5	132150835	132150835	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr5:132150835G>A	ENST00000378693.2	+	1	1803	c.1522G>A	c.(1522-1524)Gcc>Acc	p.A508T	AC004775.5_ENST00000607389.1_lincRNA	NM_175873.4	NP_787069.3	Q2M3V2	SWAHA_HUMAN	sosondowah ankyrin repeat domain family member A	508																	GTTCTTGAGCGCCTCGCCCAT	0.582																																																0													44	49	48					5																	132150835		2203	4300	6503	SO:0001583	missense	134548			AK090823	CCDS43361.1	5q23.3	2013-01-10	2012-01-12	2012-01-12	ENSG00000198944	ENSG00000198944		"Ankyrin repeat domain containing"	27033	protein-coding gene	gene with protein product			"ankyrin repeat domain 43"	ANKRD43		22234889	Standard	NM_175873		Approved		uc003kxw.3	Q2M3V2	OTTHUMG00000059844	ENST00000378693.2:c.1522G>A	5.37:g.132150835G>A	ENSP00000367965:p.Ala508Thr		Q8NAE7	Missense_Mutation	SNP	ENST00000378693.2	37	CCDS43361.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.116714	0.56505	.	.	ENSG00000198944	ENST00000378693	T	0.21932	1.98	6.15	4.3	0.51218	.	0.395022	0.20050	N	0.100303	T	0.14313	0.0346	L	0.46157	1.445	0.33529	D	0.593311	P	0.42456	0.78	B	0.27887	0.084	T	0.16837	-1.0389	10	0.30854	T	0.27	-23.571	11.5851	0.50914	0.0677:0.126:0.8062:0.0	.	508	Q2M3V2	ANR43_HUMAN	T	508	ENSP00000367965:A508T	ENSP00000367965:A508T	A	+	1	0	ANKRD43	132178734	0.972000	0.33761	0.998000	0.56505	0.496000	0.33645	1.574000	0.36482	2.932000	0.99384	0.643000	0.83706	GCC		0.582	SOWAHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133062.1	NM_175873		A	132150835	G	A	132150835	3	1	700	1	0	0	0	0	1	0	0	0	671	1087	38	1	1524	1	ANKRD43	5	132150835	Missense_Mutation	SNP	G	TCGA-KL-8331-01A-11D-2310-10	49213425	132150835	48764425	11	38894											
DHX16	8449	broad.mit.edu;ucsc.edu;mdanderson.org	37	6	30623374	30623374	+	Splice_Site	SNP	C	C	T			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr6:30623374C>T	ENST00000376442.3	-	17	2694	c.2499G>A	c.(2497-2499)aaG>aaA	p.K833K	DHX16_ENST00000376437.5_Splice_Site_p.K352K	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	833					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			kidney(2)|ovary(2)	4						AACAGCTGTACCTGGGACAGG	0.498																																																0													65	62	63					6																	30623374		1510	2709	4219	SO:0001630	splice_region_variant	8449			AB001601	CCDS4685.1	6p21.3	2010-02-17	2003-06-13	2003-06-20	ENSG00000204560	ENSG00000204560		"DEAH-boxes"	2739	protein-coding gene	gene with protein product		603405	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16"	DDX16		9547260	Standard	NM_003587		Approved	DBP2, Prp2, PRPF2	uc003nqz.3	O60231	OTTHUMG00000031060	ENST00000376442.3:c.2499-1G>A	6.37:g.30623374C>T			O60322|Q5JP45|Q969X7|Q96QC1	Silent	SNP	ENST00000376442.3	37	CCDS4685.1																																																																																				0.498	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076076.2	NM_003587	Silent	T	30623374	C	T	30623374	5	4	700	1	0	0	0	0	0	0	1	0	4504	521	18	2	642	2	DHX16	6	30623374	Splice_Site	SNP	C	TCGA-KL-8331-01A-11D-2310-10		30623374	140491693	12	38895											
MUC21	394263	mdanderson.org	37	6	30954600	30954600	+	Missense_Mutation	SNP	A	A	C	rs552812759	byFrequency	TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr6:30954600A>C	ENST00000376296.3	+	2	889	c.648A>C	c.(646-648)agA>agC	p.R216S	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	216	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						CTGAGTCCAGAACGACCTCCA	0.617													a|||	17	0.00339457	0.0023	0.0101	5008	,	,		23080	0.003		0.003	False		,,,				2504	0.001															0													154	152	153					6																	30954600		2203	4300	6503	SO:0001583	missense	394263			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.648A>C	6.37:g.30954600A>C	ENSP00000365473:p.Arg216Ser		B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	ENST00000376296.3	37	CCDS34388.1	.	.	.	.	.	.	.	.	.	.	a	0.015	-1.570408	0.00895	.	.	ENSG00000204544	ENST00000376296	T	0.01165	5.24	3.65	-7.29	0.01451	.	.	.	.	.	T	0.00109	0.0003	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39035	-0.9633	8	.	.	.	0.2248	6.4041	0.21654	0.4184:0.1401:0.0:0.4415	.	216	Q5SSG8	MUC21_HUMAN	S	216	ENSP00000365473:R216S	.	R	+	3	2	MUC21	31062579	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-6.119000	0.00080	-3.816000	0.00103	-1.775000	0.00657	AGA		0.617	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		C	30954600	A	C	30954600	3	2	700	1	0	0	0	0	1	0	0	0	9979	243	9	5	654	5	MUC21	6	30954600	Missense_Mutation	SNP	A	TCGA-KL-8331-01A-11D-2310-10	331226	30954600	140160467	13	38896											
C4A	720	broad.mit.edu	37	6	31963559	31963559	+	Missense_Mutation	SNP	A	A	G	rs147162052		TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr6:31963559A>G	ENST00000428956.2	+	25	3302	c.3218A>G	c.(3217-3219)gAc>gGc	p.D1073G	C4A_ENST00000498271.1_Missense_Mutation_p.D1073G	NM_007293.2	NP_009224.2	P0C0L4	CO4A_HUMAN	complement component 4A (Rodgers blood group)	1073			D -> G (in allotype C4A1, allotype C4A2; dbSNP:rs147162052). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:3696167, ECO:0000269|Ref.8}.		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)	TTGTCACGGGACAGCAGCACC	0.612																																																0													101	86	91					6																	31963559		1499	2656	4155	SO:0001583	missense	720			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.3218A>G	6.37:g.31963559A>G	ENSP00000396688:p.Asp1073Gly		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	Silent	SNP	ENST00000428956.2	37	CCDS47404.1	.	.	.	.	.	.	.	.	.	.	A	1.712	-0.498842	0.04291	.	.	ENSG00000244731	ENST00000428956;ENST00000498271	T;T	0.37915	1.17;1.17	3.11	1.88	0.25563	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	.	.	.	.	T	0.16642	0.0400	M	0.64170	1.965	0.80722	D	1	B;B	0.19200	0.015;0.034	B;B	0.23150	0.026;0.044	T	0.04885	-1.0920	9	0.46703	T	0.11	.	5.4739	0.16686	0.8606:0.0:0.1394:0.0	.	1073;1073	A6H8M8;P0C0L4	.;CO4A_HUMAN	G	1073	ENSP00000396688:D1073G;ENSP00000420212:D1073G	ENSP00000396688:D1073G	D	+	2	0	C4A	32071538	0.168000	0.22989	0.910000	0.35882	0.043000	0.13939	0.471000	0.22100	0.399000	0.25367	-1.226000	0.01582	GAC		0.612	C4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076364.3	NM_007293		G	31963559	A	G	31963559	3	3	700	1	0	0	0	0	1	0	0	0	2249	275	10	3	3316	3	C4A	6	31963559	Missense_Mutation	SNP	A	TCGA-KL-8331-01A-11D-2310-10	1008959	31963559	139151508	14	38897											
TNXB	7148	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	6	32052298	32052298	+	Missense_Mutation	SNP	G	G	A	rs367775946		TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr6:32052298G>A	ENST00000375244.3	-	8	3538	c.3337C>T	c.(3337-3339)Cgc>Tgc	p.R1113C	TNXB_ENST00000375247.2_Missense_Mutation_p.R1113C			P22105	TENX_HUMAN	tenascin XB	1200	Fibronectin type-III 3. {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						ACGGCCGAGCGCTGGGGTCCT	0.617																																																0								G	CYS/ARG	0,2602		0,0,1301	42	46	45		3337	4.2	1	6		45	1,5097		0,1,2548	no	missense	TNXB	NM_019105.6	180	0,1,3849	AA,AG,GG		0.0196,0.0,0.013	probably-damaging	1113/4243	32052298	1,7699	1301	2549	3850	SO:0001583	missense	7148			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.3337C>T	6.37:g.32052298G>A	ENSP00000364393:p.Arg1113Cys		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37		.	.	.	.	.	.	.	.	.	.	G	18.00	3.524889	0.64747	0.0	1.96E-4	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.55052	0.54;0.54	4.23	4.23	0.50019	.	0.157128	0.30383	N	0.009750	T	0.73032	0.3535	M	0.91038	3.17	0.47037	D	0.99929	D	0.89917	1.0	D	0.74348	0.983	T	0.80339	-0.1424	10	0.66056	D	0.02	.	15.5671	0.76303	0.0:0.0:1.0:0.0	.	1113	P22105-3	.	C	1113	ENSP00000364393:R1113C;ENSP00000364396:R1113C	ENSP00000364393:R1113C	R	-	1	0	TNXB	32160276	1.000000	0.71417	0.995000	0.50966	0.591000	0.36615	6.136000	0.71703	2.200000	0.70718	0.655000	0.94253	CGC		0.617	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		A	32052298	G	A	32052298	3	1	700	1	0	0	0	0	1	0	0	0	16351	1087	38	1	11524	1	TNXB	6	32052298	Missense_Mutation	SNP	G	TCGA-KL-8331-01A-11D-2310-10	88739	32052298	139062769	15	38898											
CDKN1A	1026	broad.mit.edu;hgsc.bcm.edu	37	6	36652011	36652012	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr6:36652011_36652012insC	ENST00000405375.1	+	2	368_369	c.133_134insC	c.(133-135)gccfs	p.A45fs	CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000448526.2_Frame_Shift_Ins_p.A79fs|CDKN1A_ENST00000373711.2_Frame_Shift_Ins_p.A45fs|CDKN1A_ENST00000244741.5_Frame_Shift_Ins_p.A45fs	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	45					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						CATCCAGGAGGCCCGTGAGCGA	0.658																																																0																																										SO:0001589	frameshift_variant	1026			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.136dupC	6.37:g.36652014_36652014dupC	ENSP00000384849:p.Ala45fs		Q14010|Q6FI05|Q9BUT4	Frame_Shift_Ins	INS	ENST00000405375.1	37	CCDS4824.1																																																																																				0.658	CDKN1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040354.1	NM_078467		C	36652012	-	C	36652011	7	5	700	1	0	1	1	0	0	0	0	0	3160	1203	42	0	135	0	CDKN1A	6	36652011	Frame_Shift_Ins	INS	-	TCGA-KL-8331-01A-11D-2310-10	4599713	36652011	134463056	16	38899	310	2									
CDKN1A	1026	bcgsc.ca	37	6	36652012	36652013	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr6:36652012_36652013insC	ENST00000405375.1	+	2	369_370	c.134_135insC	c.(133-138)gcccgtfs	p.R46fs	CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000448526.2_Frame_Shift_Ins_p.R80fs|CDKN1A_ENST00000373711.2_Frame_Shift_Ins_p.R46fs|CDKN1A_ENST00000244741.5_Frame_Shift_Ins_p.R46fs	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	46					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						ATCCAGGAGGCCCGTGAGCGAT	0.658																																																0																																										SO:0001589	frameshift_variant	1026			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.136dupC	6.37:g.36652014_36652014dupC	ENSP00000384849:p.Arg46fs		Q14010|Q6FI05|Q9BUT4	Frame_Shift_Ins	INS	ENST00000405375.1	37	CCDS4824.1																																																																																				0.658	CDKN1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040354.1	NM_078467		C	36652013	-	C	36652012	7	5	700	1	0	1	1	0	0	0	0	0	3160	739	26	0	136	0	CDKN1A	6	36652012	Frame_Shift_Ins	INS	-	TCGA-KL-8331-01A-11D-2310-10	1	36652012	134463055	17	38900	310	2									
BCLAF1	9774	hgsc.bcm.edu	37	6	136596668	136596668	+	Splice_Site	SNP	A	A	C			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr6:136596668A>C	ENST00000531224.1	-	6	2105		c.e6+1		BCLAF1_ENST00000353331.4_Splice_Site|BCLAF1_ENST00000392348.2_Splice_Site|BCLAF1_ENST00000527759.1_Splice_Site|BCLAF1_ENST00000530767.1_Splice_Site|BCLAF1_ENST00000527536.1_Splice_Site	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1						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)		TACTAAGCATACCTTTAACAT	0.358																																					Colon(142;1534 1789 5427 7063 28491)											0													146	131	136					6																	136596668		2203	4300	6503	SO:0001630	splice_region_variant	9774			AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.1852+1T>G	6.37:g.136596668A>C			A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Splice_Site	SNP	ENST00000531224.1	37	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	A	15.37	2.813243	0.50527	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6834	0.62502	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BCLAF1	136638361	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	7.987000	0.88182	2.149000	0.67028	0.377000	0.23210	.		0.358	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739	Intron	C	136596668	A	C	136596668	5	2	700	1	0	0	0	0	0	0	1	0	1383	405	14	5	940	5	BCLAF1	6	136596668	Splice_Site	SNP	A	TCGA-KL-8331-01A-11D-2310-10	99944656	136596668	34518399	18	38901											
KIAA0415	9907	broad.mit.edu	37	7	4830447	4830447	+	Silent	SNP	C	C	A			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr7:4830447C>A	ENST00000348624.4	+	16	2176	c.2082C>A	c.(2080-2082)ccC>ccA	p.P694P	MIR4656_ENST00000579503.1_RNA|AP5Z1_ENST00000490487.1_3'UTR	NM_014855.2	NP_055670.1	O43299	AP5Z1_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	694					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)											CCAGGTGTCCCCCCCAGGTGG	0.642																																																0													31	35	34					7																	4830447		2027	4172	6199	SO:0001819	synonymous_variant	9907			AB007875	CCDS47528.1	7p22.1	2012-03-20	2012-03-20	2012-03-20	ENSG00000242802	ENSG00000242802			22197	protein-coding gene	gene with protein product		613653	"KIAA0415"	KIAA0415		20613862, 22022230	Standard	NM_014855		Approved	SPG48, zeta	uc003sne.3	O43299	OTTHUMG00000151754	ENST00000348624.4:c.2082C>A	7.37:g.4830447C>A			Q8N3X2|Q96H80	Silent	SNP	ENST00000348624.4	37	CCDS47528.1																																																																																				0.642	AP5Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323771.1			A	4830447	C	A	4830447	2	1	700	1	0	0	0	0	0	0	0	1	8177	610	22	4		4	KIAA0415	7	4830447	Silent	SNP	C	TCGA-KL-8331-01A-11D-2310-10		4830447	154308216	19	38902											
SLC29A4	222962	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	7	5342510	5342510	+	Silent	SNP	C	C	T			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr7:5342510C>T	ENST00000396872.3	+	11	1694	c.1533C>T	c.(1531-1533)gaC>gaT	p.D511D	SLC29A4_ENST00000297195.4_Silent_p.D511D|SLC29A4_ENST00000406453.3_Silent_p.D497D|SLC29A4_ENST00000439491.2_Intron			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	511					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	Metformin(DB00331)	TCACCCGCGACGCTCACGGCA	0.682																																																0													33	26	28					7																	5342510		2198	4293	6491	SO:0001819	synonymous_variant	222962			AK075422	CCDS5340.1, CCDS75561.1	7p22.2	2013-07-17	2013-07-17		ENSG00000164638	ENSG00000164638		"Solute carriers"	23097	protein-coding gene	gene with protein product		609149	"solute carrier family 29 (nucleoside transporters), member 4"			12838422	Standard	NM_153247		Approved	FLJ34923, ENT4	uc003soc.3	Q7RTT9	OTTHUMG00000023797	ENST00000396872.3:c.1533C>T	7.37:g.5342510C>T			Q6PJ08|Q86WY8|Q8NAR3|Q8NBM2	Silent	SNP	ENST00000396872.3	37	CCDS5340.1																																																																																				0.682	SLC29A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060118.6	NM_153247		T	5342510	C	T	5342510	2	4	700	1	0	0	0	0	0	0	0	1	14543	535	19	1		1	SLC29A4	7	5342510	Silent	SNP	C	TCGA-KL-8331-01A-11D-2310-10	512063	5342510	153796153	20	38903											
GRM3	2913	broad.mit.edu;mdanderson.org;bcgsc.ca	37	7	86479790	86479790	+	Missense_Mutation	SNP	G	G	T			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr7:86479790G>T	ENST00000361669.2	+	5	3595	c.2496G>T	c.(2494-2496)aaG>aaT	p.K832N	GRM3_ENST00000394720.2_Nonsense_Mutation_p.E475*|GRM3_ENST00000439827.1_Nonsense_Mutation_p.E477*|GRM3_ENST00000546348.1_Missense_Mutation_p.K424N|GRM3_ENST00000536043.1_Missense_Mutation_p.K704N	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	832					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)					AACCCCAGAAGAATGTTGTCA	0.488																																					GBM(52;969 1098 3139 52280)											0													200	152	168					7																	86479790		2203	4300	6503	SO:0001583	missense	2913				CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.2496G>T	7.37:g.86479790G>T	ENSP00000355316:p.Lys832Asn		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	CCDS5600.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	7.249934|7.249934	0.98164|0.98164	.|.	.|.	ENSG00000198822|ENSG00000198822	ENST00000439827;ENST00000394720|ENST00000361669;ENST00000546348;ENST00000536043	.|D;D;D	.|0.89485	.|-2.52;-2.41;-2.29	6.08|6.08	5.2|5.2	0.72013|0.72013	.|GPCR, family 3, C-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.90277	.|0.6959	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	A|A	1|1	.|D;D;D	.|0.89917	.|1.0;0.999;0.999	.|D;D;D	.|0.79108	.|0.989;0.992;0.982	.|D	.|0.92864	.|0.6308	.|9	0.05721|0.72032	T|D	0.95|0.01	.|.	10.395|10.395	0.44196|0.44196	0.1466:0.0:0.8534:0.0|0.1466:0.0:0.8534:0.0	.|.	.|424;704;832	.|B7Z204;F5GYZ2;Q14832	.|.;.;GRM3_HUMAN	X|N	477;475|832;424;704	.|ENSP00000355316:K832N;ENSP00000444064:K424N;ENSP00000441407:K704N	ENSP00000378209:E475X|ENSP00000355316:K832N	E|K	+|+	1|3	0|2	GRM3|GRM3	86317726|86317726	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	5.834000|5.834000	0.69361|0.69361	1.590000|1.590000	0.49995|0.49995	0.655000|0.655000	0.94253|0.94253	GAA|AAG		0.488	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			T	86479790	G	T	86479790	3	4	700	1	0	0	0	0	1	0	0	0	6800	933	33	4	2510	4	GRM3	7	86479790	Missense_Mutation	SNP	G	TCGA-KL-8331-01A-11D-2310-10	81137280	86479790	72658873	21	38904											
PON3	5446	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	7	95024006	95024006	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr7:95024006C>T	ENST00000265627.5	-	2	105	c.95G>A	c.(94-96)cGa>cAa	p.R32Q	PON1_ENST00000542556.1_Missense_Mutation_p.R32Q|PON3_ENST00000451904.1_Missense_Mutation_p.R32Q|PON3_ENST00000427422.1_Missense_Mutation_p.R32Q|PON3_ENST00000475439.1_5'UTR	NM_000940.2	NP_000931.1	Q15166	PON3_HUMAN	paraoxonase 3	32				R -> Q (in Ref. 8; AAC41996). {ECO:0000305}.	aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|coumarin catabolic process (GO:0046226)|phenylacetate catabolic process (GO:0010124)|response to external stimulus (GO:0009605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	3,4-dihydrocoumarin hydrolase activity (GO:0018733)|aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|dihydrocoumarin hydrolase activity (GO:0047856)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)		Edetic Acid(DB00974)|Lovastatin(DB00227)	CTCCACTTCTCGAGAGGCATT	0.443																																																0													148	119	129					7																	95024006		2203	4300	6503	SO:0001583	missense	5446			L48516, AF320003	CCDS5639.1	7q21.3	2014-03-14			ENSG00000105852	ENSG00000105852	3.1.1.2	"Paraoxonases"	9206	protein-coding gene	gene with protein product	"arylesterase 3"	602720				8661009	Standard	NM_000940		Approved			Q15166	OTTHUMG00000153917	ENST00000265627.5:c.95G>A	7.37:g.95024006C>T	ENSP00000265627:p.Arg32Gln		A4D1H8|O75855|O76060|Q6IRU9|Q8IX97|Q9BZH9	Missense_Mutation	SNP	ENST00000265627.5	37	CCDS5639.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.560643	0.45590	.	.	ENSG00000005421;ENSG00000105852;ENSG00000105852	ENST00000542556;ENST00000265627;ENST00000427422	T;T;T	0.42513	0.97;0.97;0.97	4.75	1.89	0.25635	Six-bladed beta-propeller, TolB-like (1);	0.194041	0.42682	D	0.000671	T	0.33206	0.0855	M	0.70108	2.13	0.23198	N	0.998135	B;D;P	0.56968	0.287;0.978;0.625	B;B;B	0.38562	0.016;0.276;0.034	T	0.38373	-0.9664	10	0.56958	D	0.05	-5.999	3.9929	0.09545	0.1878:0.6158:0.0:0.1963	.	32;32;32	B4E2I0;F5H4W9;Q15166	.;.;PON3_HUMAN	Q	32	ENSP00000444854:R32Q;ENSP00000265627:R32Q;ENSP00000413276:R32Q	ENSP00000444854:R32Q	R	-	2	0	PON1;PON3	94861942	0.004000	0.15560	0.809000	0.32408	0.023000	0.10783	0.491000	0.22419	0.706000	0.31912	-0.188000	0.12872	CGA		0.443	PON3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333007.1	NM_000940		T	95024006	C	T	95024006	3	4	700	1	0	0	0	0	1	0	0	0	12252	884	31	1	1001	1	PON3	7	95024006	Missense_Mutation	SNP	C	TCGA-KL-8331-01A-11D-2310-10	8544216	95024006	64114657	22	38905											
PTPRZ1	5803	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	7	121699937	121699937	+	Missense_Mutation	SNP	G	G	T			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr7:121699937G>T	ENST00000393386.2	+	29	7213	c.6802G>T	c.(6802-6804)Gac>Tac	p.D2268Y	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.D1401Y	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	2268	Tyrosine-protein phosphatase 2. {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						AGTCTTTGCTGACATTGTAAG	0.393																																																0													99	90	93					7																	121699937		2203	4300	6503	SO:0001583	missense	5803			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.6802G>T	7.37:g.121699937G>T	ENSP00000377047:p.Asp2268Tyr		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.076232	0.76415	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.11495	2.77;2.77	6.07	6.07	0.98685	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	T	0.36744	0.0978	M	0.71581	2.175	0.52099	D	0.999941	P;D;D	0.89917	0.937;0.994;1.0	P;D;D	0.87578	0.628;0.953;0.998	T	0.01405	-1.1363	10	0.87932	D	0	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	1407;1401;2268	P23471-2;C9JFM0;P23471	.;.;PTPRZ_HUMAN	Y	2268;1401	ENSP00000377047:D2268Y;ENSP00000410000:D1401Y	ENSP00000377047:D2268Y	D	+	1	0	PTPRZ1	121487173	1.000000	0.71417	0.993000	0.49108	0.956000	0.61745	4.146000	0.58072	2.885000	0.99019	0.655000	0.94253	GAC		0.393	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		T	121699937	G	T	121699937	3	4	700	1	0	0	0	0	1	0	0	0	12820	1290	45	4	6916	4	PTPRZ1	7	121699937	Missense_Mutation	SNP	G	TCGA-KL-8331-01A-11D-2310-10	26675931	121699937	37438726	23	38906											
STRA8	346673	broad.mit.edu	37	7	134925328	134925328	+	Missense_Mutation	SNP	C	C	A			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr7:134925328C>A	ENST00000275764.3	+	2	118	c.118C>A	c.(118-120)Ctg>Atg	p.L40M		NM_182489.1	NP_872295.1			stimulated by retinoic acid 8									p.L40M(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(1)	16						AACACCCCAGCTGCCAGCACA	0.537																																																1	Substitution - Missense(1)	endometrium(1)											49	56	53					7																	134925328		2203	4300	6503	SO:0001583	missense	346673			AF513502	CCDS5839.1	7q33	2012-12-07	2012-12-07		ENSG00000146857	ENSG00000146857			30653	protein-coding gene	gene with protein product		609987	"stimulated by retinoic acid gene 8 homolog (mouse)", "stimulated by retinoic acid 8 homolog (mouse)"			12489526	Standard	NM_182489		Approved		uc011kpx.2	Q7Z7C7	OTTHUMG00000155415	ENST00000275764.3:c.118C>A	7.37:g.134925328C>A	ENSP00000275764:p.Leu40Met			Missense_Mutation	SNP	ENST00000275764.3	37	CCDS5839.1	.	.	.	.	.	.	.	.	.	.	C	10.87	1.471636	0.26423	.	.	ENSG00000146857	ENST00000275764	.	.	.	4.44	0.198	0.15168	.	0.882556	0.09763	N	0.759043	T	0.28499	0.0705	L	0.34521	1.04	0.09310	N	1	P	0.43094	0.799	B	0.42386	0.386	T	0.17107	-1.0380	9	0.35671	T	0.21	2.1207	8.9823	0.35972	0.2614:0.3107:0.4279:0.0	.	40	Q7Z7C7	STRA8_HUMAN	M	40	.	ENSP00000275764:L40M	L	+	1	2	STRA8	134575868	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.211000	0.09332	-0.150000	0.11195	0.455000	0.32223	CTG		0.537	STRA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340028.1	NM_182489		A	134925328	C	A	134925328	3	1	700	1	0	0	0	0	1	0	0	0	15328	796	28	4	124	4	STRA8	7	134925328	Missense_Mutation	SNP	C	TCGA-KL-8331-01A-11D-2310-10	13225391	134925328	24213335	24	38907											
ABCF2	10061	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	7	150921103	150921103	+	Missense_Mutation	SNP	G	G	T			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr7:150921103G>T	ENST00000287844.2	-	4	574	c.465C>A	c.(463-465)gaC>gaA	p.D155E	ABCF2_ENST00000473874.1_5'Flank|ABCF2_ENST00000222388.2_Missense_Mutation_p.D155E	NM_007189.1	NP_009120.1	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 2	155	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGGTGTCTTGTCACTAGGGG	0.562																																																0													122	103	109					7																	150921103		2203	4300	6503	SO:0001583	missense	10061			AJ005016	CCDS5922.1, CCDS5923.1	7q36.1	2012-03-14			ENSG00000033050	ENSG00000033050		"ATP binding cassette transporters / subfamily F"	71	protein-coding gene	gene with protein product		612510				8894702	Standard	NM_007189		Approved	EST133090, ABC28, M-ABC1, HUSSY-18	uc003wjo.1	Q9UG63	OTTHUMG00000154570	ENST00000287844.2:c.465C>A	7.37:g.150921103G>T	ENSP00000287844:p.Asp155Glu		O60864|Q75MJ0|Q75MJ1|Q96TE8	Missense_Mutation	SNP	ENST00000287844.2	37	CCDS5923.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.833471	0.32421	.	.	ENSG00000033050	ENST00000222388;ENST00000287844;ENST00000468073;ENST00000441774	D;D;T;T	0.91996	-2.9;-2.95;3.92;3.92	5.81	-1.61	0.08399	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.220386	0.53938	N	0.000048	T	0.81489	0.4833	L	0.32530	0.975	0.38767	D	0.954457	B;B	0.06786	0.001;0.001	B;B	0.16289	0.008;0.015	T	0.62728	-0.6793	10	0.25751	T	0.34	-3.7129	1.7619	0.02994	0.24:0.1044:0.4416:0.214	.	155;155	Q9UG63;Q75MJ1	ABCF2_HUMAN;.	E	155	ENSP00000222388:D155E;ENSP00000287844:D155E;ENSP00000419720:D155E;ENSP00000395785:D155E	ENSP00000222388:D155E	D	-	3	2	ABCF2	150552036	0.781000	0.28676	0.995000	0.50966	0.993000	0.82548	-0.353000	0.07691	-0.121000	0.11787	0.655000	0.94253	GAC		0.562	ABCF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336086.1	NM_005692		T	150921103	G	T	150921103	3	4	700	1	0	0	0	0	1	0	0	0	66	1368	48	4	1495	4	ABCF2	7	150921103	Missense_Mutation	SNP	G	TCGA-KL-8331-01A-11D-2310-10	15995775	150921103	8217560	25	38908											
RP1L1	94137	hgsc.bcm.edu;ucsc.edu	37	8	10467237	10467237	+	Silent	SNP	G	G	T			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr8:10467237G>T	ENST00000382483.3	-	4	4594	c.4371C>A	c.(4369-4371)ctC>ctA	p.L1457L		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1537					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)		CCGTCTCGCTGAGATGACTAG	0.632																																																0													76	85	82					8																	10467237		1999	4191	6190	SO:0001819	synonymous_variant	94137			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.4371C>A	8.37:g.10467237G>T			Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	ENST00000382483.3	37	CCDS43708.1																																																																																				0.632	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			T	10467237	G	T	10467237	2	4	700	1	0	0	0	0	0	0	0	1	13539	1277	45	4		4	RP1L1	8	10467237	Silent	SNP	G	TCGA-KL-8331-01A-11D-2310-10		10467237	135896785	26	38909											
KIF13B	23303	ucsc.edu	37	8	29035051	29035051	+	Silent	SNP	A	A	G			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr8:29035051A>G	ENST00000524189.1	-	9	803	c.765T>C	c.(763-765)gcT>gcC	p.A255A	KIF13B_ENST00000521515.1_Silent_p.A255A	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	255	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)		GTTCACTGCCAGCTAAATCCA	0.473																																																0													143	144	144					8																	29035051		1949	4158	6107	SO:0001819	synonymous_variant	23303			AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"Kinesins"	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.765T>C	8.37:g.29035051A>G			B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Silent	SNP	ENST00000524189.1	37	CCDS55217.1																																																																																				0.473	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1			G	29035051	A	G	29035051	2	3	700	1	0	0	0	0	0	0	0	1	8277	175	7	3		3	KIF13B	8	29035051	Silent	SNP	A	TCGA-KL-8331-01A-11D-2310-10	18567814	29035051	117328971	27	38910											
TMC1	117531	ucsc.edu;mdanderson.org;bcgsc.ca	37	9	75309495	75309495	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr9:75309495G>A	ENST00000297784.5	+	7	641	c.101G>A	c.(100-102)cGa>cAa	p.R34Q	TMC1_ENST00000396237.3_Missense_Mutation_p.R34Q|TMC1_ENST00000340019.3_Missense_Mutation_p.R34Q	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	34	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						AAGCTACCTCGAAGAGAGAGC	0.448																																					Pancreas(75;173 1345 14232 34245 43413)											0													133	121	125					9																	75309495		2202	4300	6502	SO:0001583	missense	117531			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.101G>A	9.37:g.75309495G>A	ENSP00000297784:p.Arg34Gln		A8MVZ2|B1AM91	Missense_Mutation	SNP	ENST00000297784.5	37	CCDS6643.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.608970	0.87258	.	.	ENSG00000165091	ENST00000297784;ENST00000340019;ENST00000396235;ENST00000537917;ENST00000538054;ENST00000542143;ENST00000396237	T;T;T	0.13420	2.59;2.59;2.59	5.33	5.33	0.75918	.	0.068124	0.56097	D	0.000022	T	0.25121	0.0610	L	0.36672	1.1	0.26515	N	0.974527	D;D	0.58620	0.983;0.983	P;P	0.61201	0.885;0.885	T	0.03025	-1.1081	10	0.40728	T	0.16	-12.3627	15.7578	0.78051	0.0:0.0:1.0:0.0	.	43;34	A4FUA6;Q8TDI8	.;TMC1_HUMAN	Q	34;34;43;43;43;28;34	ENSP00000297784:R34Q;ENSP00000341433:R34Q;ENSP00000379538:R34Q	ENSP00000297784:R34Q	R	+	2	0	TMC1	74499315	0.994000	0.37717	0.976000	0.42696	0.990000	0.78478	4.741000	0.62095	2.484000	0.83849	0.650000	0.86243	CGA		0.448	TMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052655.1			A	75309495	G	A	75309495	3	1	700	1	0	0	0	0	1	0	0	0	15989	1058	37	1	111	1	TMC1	9	75309495	Missense_Mutation	SNP	G	TCGA-KL-8331-01A-11D-2310-10		75309495	65903936	28	38911											
CRB2	286204	ucsc.edu;bcgsc.ca	37	9	126137497	126137497	+	Splice_Site	SNP	T	T	C			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr9:126137497T>C	ENST00000373631.3	+	12	3509	c.3508T>C	c.(3508-3510)Tgt>Cgt	p.C1170R	CRB2_ENST00000373629.2_Splice_Site_p.C838R	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	1170	EGF-like 14. {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)	p.C1170S(1)		NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CCTCTCCAGGTGTCAGGTCCC	0.617																																																1	Substitution - Missense(1)	lung(1)											60	65	63					9																	126137497		2203	4300	6503	SO:0001630	splice_region_variant	286204			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.3507-1T>C	9.37:g.126137497T>C			A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Missense_Mutation	SNP	ENST00000373631.3	37	CCDS6852.2	.	.	.	.	.	.	.	.	.	.	.	21.2	4.106936	0.77096	.	.	ENSG00000148204	ENST00000373631;ENST00000373629	D;D	0.95656	-2.67;-3.77	4.87	4.87	0.63330	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.48286	D	0.000189	D	0.98280	0.9430	H	0.94423	3.535	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99552	1.0966	10	0.87932	D	0	.	14.6481	0.68774	0.0:0.0:0.0:1.0	.	1170	Q5IJ48	CRUM2_HUMAN	R	1170;838	ENSP00000362734:C1170R;ENSP00000362732:C838R	ENSP00000362732:C838R	C	+	1	0	CRB2	125177318	1.000000	0.71417	0.997000	0.53966	0.218000	0.24690	4.723000	0.61965	2.052000	0.61016	0.459000	0.35465	TGT		0.617	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053990.3	NM_173689	Missense_Mutation	C	126137497	T	C	126137497	5	2	700	1	0	0	0	0	0	0	1	0	3851	1710	59	3	3554	3	CRB2	9	126137497	Splice_Site	SNP	T	TCGA-KL-8331-01A-11D-2310-10	50828002	126137497	15075934	29	38912											
MLLT10	8028	bcgsc.ca	37	10	21884308	21884308	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr10:21884308C>T	ENST00000307729.7	+	5	522	c.344C>T	c.(343-345)gCc>gTc	p.A115V	MLLT10_ENST00000377072.3_Missense_Mutation_p.A115V|MLLT10_ENST00000446906.2_Missense_Mutation_p.A115V|MLLT10_ENST00000377059.3_Missense_Mutation_p.A115V|MLLT10_ENST00000495130.1_3'UTR			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	115	Self-association.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GTACAATTTGCCAATGTTTCC	0.328			T	"MLL, PICALM, CDK6"	AL																																		Dom	yes		10	10p12	8028	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"		L	0													114	105	108					10																	21884308		2203	4300	6503	SO:0001583	missense	8028			U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"Zinc fingers, PHD-type"	16063	protein-coding gene	gene with protein product		602409	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.344C>T	10.37:g.21884308C>T	ENSP00000307411:p.Ala115Val		B1ANA8|Q5JT37|Q5VX90|Q66K63	Missense_Mutation	SNP	ENST00000307729.7	37	CCDS55708.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.939134	0.92526	.	.	ENSG00000078403	ENST00000377072;ENST00000446906;ENST00000307729;ENST00000377059	T;T;T;T	0.13778	2.56;2.56;2.56;2.56	4.1	4.1	0.47936	.	0.147655	0.44688	U	0.000437	T	0.13713	0.0332	L	0.33624	1.015	0.80722	D	1	P;P;P	0.41188	0.741;0.643;0.741	B;B;B	0.39771	0.309;0.187;0.309	T	0.06935	-1.0799	10	0.87932	D	0	.	16.4955	0.84242	0.0:1.0:0.0:0.0	.	115;115;115	E9PBP4;Q5VX90;P55197	.;.;AF10_HUMAN	V	115	ENSP00000366272:A115V;ENSP00000401406:A115V;ENSP00000307411:A115V;ENSP00000366258:A115V	ENSP00000307411:A115V	A	+	2	0	MLLT10	21924314	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.647000	0.83462	2.098000	0.63641	0.313000	0.20887	GCC		0.328	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047136.1			T	21884308	C	T	21884308	3	4	700	1	0	0	0	0	1	0	0	0	9628	739	26	2	358	2	MLLT10	10	21884308	Missense_Mutation	SNP	C	TCGA-KL-8331-01A-11D-2310-10		21884308	113650439	30	38913											
CHST3	9469	mdanderson.org	37	10	73767859	73767859	+	Missense_Mutation	SNP	G	G	A	rs3740129	byFrequency	TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr10:73767859G>A	ENST00000373115.4	+	3	1507	c.1070G>A	c.(1069-1071)cGg>cAg	p.R357Q		NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN	carbohydrate (chondroitin 6) sulfotransferase 3	357			R -> Q (in dbSNP:rs3740129). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:18513679}.		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						CTGGGGCTGCGGCAGCCCGCC	0.731													G|||	1372	0.273962	0.2474	0.3804	5008	,	,		13396	0.0893		0.4314	False		,,,				2504	0.2628															0								G	GLN/ARG	926,2546		181,564,991	5	4	5		1070	1.5	1	10	dbSNP_107	5	2693,3941		661,1371,1285	no	missense	CHST3	NM_004273.4	43	842,1935,2276	AA,AG,GG		40.5939,26.6705,35.8104	benign	357/480	73767859	3619,6487	1736	3317	5053	SO:0001583	missense	9469			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.1070G>A	10.37:g.73767859G>A	ENSP00000362207:p.Arg357Gln		O75099|Q52M30	Missense_Mutation	SNP	ENST00000373115.4	37	CCDS7312.1	626	0.2866300366300366	130	0.26422764227642276	137	0.3784530386740331	53	0.09265734265734266	306	0.40369393139841686	G	11.05	1.523657	0.27299	0.266705	0.405939	ENSG00000122863	ENST00000373115	D	0.82344	-1.6	5.55	1.52	0.23074	Sulfotransferase domain (1);	0.352881	0.31554	N	0.007455	T	0.00012	0.0000	N	0.11789	0.175	0.80722	P	0.0	B	0.09022	0.002	B	0.12837	0.008	T	0.27806	-1.0063	9	0.17369	T	0.5	-21.3549	8.2168	0.31516	0.403:0.0:0.597:0.0	rs3740129	357	Q7LGC8	CHST3_HUMAN	Q	357	ENSP00000362207:R357Q	ENSP00000362207:R357Q	R	+	2	0	CHST3	73437865	0.005000	0.15991	0.982000	0.44146	0.988000	0.76386	0.338000	0.19858	0.021000	0.15133	-0.258000	0.10820	CGG		0.731	CHST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048563.1	NM_004273		A	73767859	G	A	73767859	3	1	700	1	0	0	0	0	1	0	0	0	3407	1116	39	1	1076	1	CHST3	10	73767859	Missense_Mutation	SNP	G	TCGA-KL-8331-01A-11D-2310-10	51883551	73767859	61766888	31	38914											
MARCH5	54708	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	10	94071001	94071001	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr10:94071001C>T	ENST00000358935.2	+	2	477	c.145C>T	c.(145-147)Cgc>Tgc	p.R49C	MARCH5_ENST00000467521.2_3'UTR	NM_017824.4	NP_060294.1	Q9NX47	MARH5_HUMAN	membrane-associated ring finger (C3HC4) 5	49					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						CTGTCTACAACGCTGGGTGGA	0.448																																																0													88	76	80					10																	94071001		2203	4300	6503	SO:0001583	missense	54708			BC015480	CCDS7420.1	10q23.32-q23.33	2013-01-09	2005-01-26	2005-01-27	ENSG00000198060	ENSG00000198060		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	26025	protein-coding gene	gene with protein product		610637	"ring finger protein 153"	RNF153		14722266	Standard	XM_005269923		Approved	FLJ20445, MARCH-V	uc001khx.1	Q9NX47	OTTHUMG00000018757	ENST00000358935.2:c.145C>T	10.37:g.94071001C>T	ENSP00000351813:p.Arg49Cys			Missense_Mutation	SNP	ENST00000358935.2	37	CCDS7420.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.438339	0.83885	.	.	ENSG00000198060	ENST00000358935	T	0.47177	0.85	5.46	5.46	0.80206	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-CH-type (2);	0.000000	0.85682	D	0.000000	T	0.76716	0.4026	H	0.94847	3.59	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.83125	-0.0116	10	0.87932	D	0	-0.4	14.182	0.65580	0.1497:0.8503:0.0:0.0	.	49	Q9NX47	MARH5_HUMAN	C	49	ENSP00000351813:R49C	ENSP00000351813:R49C	R	+	1	0	MARCH5	94060981	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.540000	0.53611	2.559000	0.86315	0.655000	0.94253	CGC		0.448	MARCH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049388.1	NM_017824		T	94071001	C	T	94071001	3	4	700	1	0	0	0	0	1	0	0	0	9306	536	19	1	151	1	MARCH5	10	94071001	Missense_Mutation	SNP	C	TCGA-KL-8331-01A-11D-2310-10	20303142	94071001	41463746	32	38915											
DMBT1	1755	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	10	124399735	124399735	+	Silent	SNP	C	C	T			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr10:124399735C>T	ENST00000338354.3	+	52	6841	c.6735C>T	c.(6733-6735)gtC>gtT	p.V2245V	DMBT1_ENST00000368955.3_Silent_p.V2235V|DMBT1_ENST00000359586.6_Silent_p.V965V|DMBT1_ENST00000368909.3_Silent_p.V2245V|DMBT1_ENST00000368956.2_Silent_p.V1617V|DMBT1_ENST00000344338.3_Silent_p.V2235V|DMBT1_ENST00000330163.4_Silent_p.V1617V			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2245	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CCATCCAGGTCGAGGAAGTCC	0.468																																					Ovarian(182;93 2026 18125 22222 38972)											0													270	253	259					10																	124399735		2060	4205	6265	SO:0001819	synonymous_variant	1755				CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.6735C>T	10.37:g.124399735C>T			A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Silent	SNP	ENST00000338354.3	37																																																																																					0.468	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		T	124399735	C	T	124399735	2	4	700	1	0	0	0	0	0	0	0	1	4579	871	31	1		1	DMBT1	10	124399735	Silent	SNP	C	TCGA-KL-8331-01A-11D-2310-10	30328734	124399735	11135012	33	38916											
KCNQ1	3784	ucsc.edu	37	11	2797283	2797283	+	Splice_Site	SNP	A	A	G			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr11:2797283A>G	ENST00000155840.5	+	13	1792	c.1684A>G	c.(1684-1686)Agg>Ggg	p.R562G	KCNQ1_ENST00000335475.5_Splice_Site_p.R435G	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	562					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle contraction (GO:0060048)|cardiovascular system development (GO:0072358)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|gene silencing (GO:0016458)|male gonad development (GO:0008584)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of insulin secretion (GO:0046676)|positive regulation of gastric acid secretion (GO:0060454)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	basolateral plasma membrane (GO:0016323)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)|zymogen granule membrane (GO:0042589)	calmodulin binding (GO:0005516)|delayed rectifier potassium channel activity (GO:0005251)|ion channel binding (GO:0044325)|outward rectifier potassium channel activity (GO:0015271)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|protein phosphatase 1 binding (GO:0008157)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	GCTGCAGAGGAGGTGGGCACG	0.677																																																0			GRCh37	CD044138	KCNQ1	D							59	45	50					11																	2797283		2179	4266	6445	SO:0001630	splice_region_variant	3784			AF000571	CCDS7736.1	11p15.5	2014-09-17			ENSG00000053918	ENSG00000053918		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6294	protein-coding gene	gene with protein product	"Jervell and Lange-Nielsen syndrome 1"	607542		LQT, KCNA9		8528244, 16382104	Standard	NM_181798		Approved	Kv7.1, KCNA8, KVLQT1, JLNS1, LQT1	uc001lwn.3	P51787	OTTHUMG00000009900	ENST00000155840.5:c.1685+1A>G	11.37:g.2797283A>G			O00347|O60607|O94787|Q14D14|Q7Z6G9|Q92960|Q9UMN8|Q9UMN9	Missense_Mutation	SNP	ENST00000155840.5	37	CCDS7736.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.041555	0.75732	.	.	ENSG00000053918	ENST00000155840;ENST00000335475	D;D	0.99882	-7.48;-7.48	3.78	3.78	0.43462	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.279693	0.34700	N	0.003753	D	0.99859	0.9934	M	0.86178	2.8	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.998	D	0.96474	0.9351	10	0.87932	D	0	-37.0564	10.783	0.46388	1.0:0.0:0.0:0.0	.	435;435;562	P51787-2;Q14D14;P51787	.;.;KCNQ1_HUMAN	G	562;435	ENSP00000155840:R562G;ENSP00000334497:R435G	ENSP00000155840:R562G	R	+	1	2	KCNQ1	2753859	1.000000	0.71417	0.999000	0.59377	0.898000	0.52572	2.557000	0.45871	1.720000	0.51447	0.459000	0.35465	AGG		0.677	KCNQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027382.2	NM_000218	Missense_Mutation	G	2797283	A	G	2797283	5	3	700	1	0	0	0	0	0	0	1	0	8084	318	11	3	1743	3	KCNQ1	11	2797283	Splice_Site	SNP	A	TCGA-KL-8331-01A-11D-2310-10		2797283	132209233	34	38917											
CDC42BPG	55561	ucsc.edu	37	11	64601933	64601933	+	Silent	SNP	T	T	C	rs7933683	byFrequency	TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr11:64601933T>C	ENST00000342711.5	-	19	2291	c.2292A>G	c.(2290-2292)acA>acG	p.T764T	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						CCTGCACCTGTGTCAGCCGCT	0.706													C|||	1376	0.27476	0.0424	0.2147	5008	,	,		15170	0.4921		0.2575	False		,,,				2504	0.4254															0								C		284,3850		12,260,1795	6	7	6		2292	-6.1	0.8	11	dbSNP_116	6	1681,6531		171,1339,2596	no	coding-synonymous	CDC42BPG	NM_017525.2		183,1599,4391	CC,CT,TT		20.47,6.8699,15.9161		764/1552	64601933	1965,10381	2067	4106	6173	SO:0001819	synonymous_variant	55561			AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"Pleckstrin homology (PH) domain containing"	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.2292A>G	11.37:g.64601933T>C				Silent	SNP	ENST00000342711.5	37	CCDS31601.1																																																																																				0.706	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516		C	64601933	T	C	64601933	2	2	700	1	0	0	0	0	0	0	0	1	3076	1683	59	3		3	CDC42BPG	11	64601933	Silent	SNP	T	TCGA-KL-8331-01A-11D-2310-10	61804650	64601933	70404583	35	38918											
SLC6A13	6540	ucsc.edu	37	12	332318	332318	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr12:332318A>G	ENST00000343164.4	-	12	1446	c.1394T>C	c.(1393-1395)cTc>cCc	p.L465P	SLC6A13_ENST00000539668.1_5'UTR|SLC6A13_ENST00000445055.2_Missense_Mutation_p.L373P	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	465					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)			AGCCACACAGAGGGACTCGAA	0.547																																																0													151	118	129					12																	332318		2203	4300	6503	SO:0001583	missense	6540			U76343	CCDS8502.1, CCDS53729.1, CCDS58198.1	12p13.33	2013-07-19	2013-07-19		ENSG00000010379	ENSG00000010379		"Solute carriers"	11046	protein-coding gene	gene with protein product	"GABA transporter 2"	615097	"solute carrier family 6 (neurotransmitter transporter, GABA), member 13"				Standard	NM_001243392		Approved	GAT2	uc001qic.2	Q9NSD5	OTTHUMG00000168053	ENST00000343164.4:c.1394T>C	12.37:g.332318A>G	ENSP00000339260:p.Leu465Pro		B4DJL1|Q8TCC2|Q8WW56	Missense_Mutation	SNP	ENST00000343164.4	37	CCDS8502.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.471544	0.84533	.	.	ENSG00000010379	ENST00000445055;ENST00000313154;ENST00000343164	T;T	0.77229	-1.08;-1.08	4.8	4.8	0.61643	.	0.646127	0.16228	N	0.223738	D	0.87402	0.6168	M	0.76433	2.335	0.80722	D	1	P;P;P	0.52463	0.779;0.953;0.953	P;D;D	0.70487	0.718;0.969;0.924	D	0.88156	0.2854	10	0.87932	D	0	.	14.3492	0.66688	1.0:0.0:0.0:0.0	.	373;444;465	B4DJL1;B4DJS3;Q9NSD5	.;.;S6A13_HUMAN	P	373;444;465	ENSP00000407104:L373P;ENSP00000339260:L465P	ENSP00000318097:L444P	L	-	2	0	SLC6A13	202579	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.519000	0.81809	1.796000	0.52611	0.459000	0.35465	CTC		0.547	SLC6A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397801.1	NM_016615		G	332318	A	G	332318	3	3	700	1	0	0	0	0	1	0	0	0	14682	304	11	3	430	3	SLC6A13	12	332318	Missense_Mutation	SNP	A	TCGA-KL-8331-01A-11D-2310-10		332318	133519577	36	38919											
AICDA	57379	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	8759502	8759502	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr12:8759502C>T	ENST00000229335.6	-	2	218	c.115G>A	c.(115-117)Gct>Act	p.A39T	AICDA_ENST00000537228.1_Missense_Mutation_p.A39T	NM_020661.2	NP_065712.1	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	39	Important for interaction with CTNNBL1.				B cell differentiation (GO:0030183)|cellular response to lipopolysaccharide (GO:0071222)|DNA demethylation (GO:0080111)|isotype switching (GO:0045190)|mRNA processing (GO:0006397)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|somatic diversification of immunoglobulins (GO:0016445)|somatic hypermutation of immunoglobulin genes (GO:0016446)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cytidine deaminase activity (GO:0004126)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					AAGGATGTAGCACTGTCACGC	0.453																																					GBM(62;896 1067 5527 26594 30137)											0													92	89	90					12																	8759502		1990	4153	6143	SO:0001583	missense	57379			AB040430	CCDS41747.1	12p13	2014-09-17			ENSG00000111732	ENSG00000111732		"Apolipoprotein B mRNA editing enzymes"	13203	protein-coding gene	gene with protein product		605257					Standard	NM_020661		Approved	HIGM2, CDA2, ARP2, AID	uc001qur.2	Q9GZX7	OTTHUMG00000168676	ENST00000229335.6:c.115G>A	12.37:g.8759502C>T	ENSP00000229335:p.Ala39Thr		Q6QJ81|Q8NFC1	Missense_Mutation	SNP	ENST00000229335.6	37	CCDS41747.1	.	.	.	.	.	.	.	.	.	.	C	15.21	2.764473	0.49574	.	.	ENSG00000111732	ENST00000229335;ENST00000537228	T;T	0.65549	-0.16;-0.16	5.36	4.46	0.54185	APOBEC-like, N-terminal (1);	0.155473	0.64402	D	0.000017	T	0.47764	0.1463	N	0.19112	0.55	0.41782	D	0.989827	P;B;P	0.39352	0.454;0.042;0.669	B;B;B	0.41374	0.192;0.089;0.355	T	0.46386	-0.9195	10	0.38643	T	0.18	-18.6958	9.9657	0.41723	0.1563:0.6929:0.1508:0.0	.	39;39;39	Q9GZX7;Q6QJ80;Q6QJ81	AICDA_HUMAN;.;.	T	39	ENSP00000229335:A39T;ENSP00000445691:A39T	ENSP00000229335:A39T	A	-	1	0	AICDA	8650769	1.000000	0.71417	0.991000	0.47740	0.872000	0.50106	3.930000	0.56522	1.239000	0.43787	0.467000	0.42956	GCT		0.453	AICDA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400575.1	NM_020661		T	8759502	C	T	8759502	3	4	700	1	0	0	0	0	1	0	0	0	422	710	25	2	497	2	AICDA	12	8759502	Missense_Mutation	SNP	C	TCGA-KL-8331-01A-11D-2310-10	8427184	8759502	125092393	37	38920											
TAS2R31	259290	bcgsc.ca	37	12	11183042	11183042	+	Missense_Mutation	SNP	C	C	G	rs3759246	byFrequency	TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr12:11183042C>G	ENST00000390675.2	-	1	964	c.893G>C	c.(892-894)aGg>aCg	p.R298T	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	298					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						CACCCAGTACCTCACTTGCCG	0.418																																																0													200	202	201					12																	11183042		1968	4187	6155	SO:0001583	missense	259290			AX097748, AF494228	CCDS53747.1	12p13.2	2012-08-22				ENSG00000256436		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	19113	protein-coding gene	gene with protein product		612669	"taste receptor, type 2, member 44"	TAS2R44			Standard	NM_176885		Approved	T2R31, T2R53	uc001qzo.1	P59538		ENST00000390675.2:c.893G>C	12.37:g.11183042C>G	ENSP00000375093:p.Arg298Thr		P59547|Q17R84|Q645X5	Missense_Mutation	SNP	ENST00000390675.2	37	CCDS53747.1	.	.	.	.	.	.	.	.	.	.	.	10.34	1.323373	0.24080	.	.	ENSG00000256436	ENST00000390675	T	0.38077	1.16	2.61	-0.464	0.12160	.	.	.	.	.	T	0.32285	0.0824	L	0.33792	1.035	0.09310	N	1	P	0.40681	0.727	P	0.49085	0.6	T	0.23440	-1.0188	9	0.44086	T	0.13	.	5.1028	0.14768	0.0:0.5087:0.0:0.4913	rs3759246	298	P59538	T2R31_HUMAN	T	298	ENSP00000375093:R298T	ENSP00000375093:R298T	R	-	2	0	TAS2R31	11074309	0.000000	0.05858	0.001000	0.08648	0.043000	0.13939	-2.166000	0.01273	-0.264000	0.09365	0.184000	0.17185	AGG		0.418	TAS2R31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400233.1	NM_176885		G	11183042	C	G	11183042	3	3	700	1	0	0	0	0	1	0	0	0	15579	681	24	4	40	4	TAS2R31	12	11183042	Missense_Mutation	SNP	C	TCGA-KL-8331-01A-11D-2310-10	2423540	11183042	122668853	38	38921											
TAS2R43	259289	mdanderson.org	37	12	11244369	11244369	+	Missense_Mutation	SNP	G	G	A	rs200586631	byFrequency	TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr12:11244369G>A	ENST00000531678.1	-	1	543	c.460C>T	c.(460-462)Cgg>Tgg	p.R154W	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176884.2	NP_795365.2	P59537	T2R43_HUMAN	taste receptor, type 2, member 43	154					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(1)|ovary(1)|prostate(2)|urinary_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		TCTTTTGTCCGCACAATCTCA	0.368													.|||	2	0.000399361	0.0015	0.0	5008	,	,		14006	0.0		0.0	False		,,,				2504	0.0															0													76	68	71					12																	11244369		1796	3334	5130	SO:0001583	missense	259289			AF494237	CCDS53749.1	12p13.2	2012-08-22				ENSG00000255374		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18875	protein-coding gene	gene with protein product		612668				12379855	Standard	NM_176884		Approved	T2R52	uc001qzq.1	P59537		ENST00000531678.1:c.460C>T	12.37:g.11244369G>A	ENSP00000431719:p.Arg154Trp		P59546|Q645X4	Missense_Mutation	SNP	ENST00000531678.1	37	CCDS53749.1	.	.	.	.	.	.	.	.	.	.	-	0.004	-2.315340	0.00235	.	.	ENSG00000255374	ENST00000531678	T	0.37584	1.19	2.01	1.05	0.20165	.	.	.	.	.	T	0.09069	0.0224	N	0.01009	-1.055	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.35500	-0.9786	9	0.02654	T	1	.	4.5717	0.12214	0.2129:0.0:0.7871:0.0	.	154	P59537	T2R43_HUMAN	W	154	ENSP00000431719:R154W	ENSP00000431719:R154W	R	-	1	2	TAS2R43	11135636	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	-0.836000	0.04382	0.165000	0.19558	0.195000	0.17529	CGG		0.368	TAS2R43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383561.1	NM_176884		A	11244369	G	A	11244369	3	1	700	1	0	0	0	0	1	0	0	0	15586	1086	38	1	473	1	TAS2R43	12	11244369	Missense_Mutation	SNP	G	TCGA-KL-8331-01A-11D-2310-10	61327	11244369	122607526	39	38922											
TAS2R30	259293	broad.mit.edu	37	12	11286136	11286137	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr12:11286136_11286137insA	ENST00000539585.1	-	1	1106_1107	c.707_708insT	c.(706-708)ctgfs	p.L236fs	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_001097643.1	NP_001091112.1	P59541	T2R30_HUMAN	taste receptor, type 2, member 30	236					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)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						TGGCACATAACAGAAGAAAGGA	0.411																																																0																																										SO:0001589	frameshift_variant	259293			AX097746, AF494233	CCDS53750.1	12p13.2	2012-08-22				ENSG00000256188		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	19112	protein-coding gene	gene with protein product		613963	"taste receptor, type 2, member 47"	TAS2R47			Standard	NM_001097643		Approved	T2R30	uc009zhs.1	P59541		ENST00000539585.1:c.708dupT	12.37:g.11286137_11286137dupA	ENSP00000444736:p.Leu236fs		Q645X7	Frame_Shift_Ins	INS	ENST00000539585.1	37	CCDS53750.1																																																																																				0.411	TAS2R30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400238.1	NM_001097643		A	11286137	-	A	11286136	7	5	700	1	0	1	1	0	0	0	0	0	15578	465	17	0	255	0	TAS2R30	12	11286136	Frame_Shift_Ins	INS	-	TCGA-KL-8331-01A-11D-2310-10	41767	11286136	122565759	40	38923											
SOAT2	8435	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	12	53517645	53517645	+	Silent	SNP	C	C	T			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr12:53517645C>T	ENST00000301466.3	+	14	1566	c.1506C>T	c.(1504-1506)tgC>tgT	p.C502C		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	502					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)	GGCGGCACTGCCCCTTACCCC	0.612																																																0													98	79	85					12																	53517645		2203	4300	6503	SO:0001819	synonymous_variant	8435			AF059203	CCDS8847.1	12q13.13	2012-09-20			ENSG00000167780	ENSG00000167780	2.3.1.26		11178	protein-coding gene	gene with protein product		601311				9756920	Standard	NM_003578		Approved	ACAT2	uc001sbv.3	O75908	OTTHUMG00000169774	ENST00000301466.3:c.1506C>T	12.37:g.53517645C>T			F5H7W4|I6L9H9|Q4VB99|Q4VBA1|Q96TD4|Q9UNR2	Silent	SNP	ENST00000301466.3	37	CCDS8847.1																																																																																				0.612	SOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405817.1			T	53517645	C	T	53517645	2	4	700	1	0	0	0	0	0	0	0	1	14917	747	26	2		2	SOAT2	12	53517645	Silent	SNP	C	TCGA-KL-8331-01A-11D-2310-10	42231509	53517645	80334250	41	38924											
ATP8A2	51761	bcgsc.ca	37	13	26133897	26133897	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr13:26133897A>G	ENST00000381655.2	+	15	1533	c.1391A>G	c.(1390-1392)gAc>gGc	p.D464G	ATP8A2_ENST00000255283.8_Missense_Mutation_p.D424G	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	424					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		TCTTCAGATGACTTCTGGTAA	0.373																																																0													109	101	103					13																	26133897		1813	4076	5889	SO:0001583	missense	51761			AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"ATPases / P-type"	13533	protein-coding gene	gene with protein product		605870	"ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2", "ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.1391A>G	13.37:g.26133897A>G	ENSP00000371070:p.Asp464Gly		Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	ENST00000381655.2	37	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	a	15.21	2.765965	0.49574	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	T;T	0.67345	-0.26;-0.26	5.03	5.03	0.67393	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.113760	0.64402	D	0.000015	T	0.66015	0.2747	L	0.42632	1.34	0.58432	D	0.999999	B;P;B	0.48503	0.126;0.911;0.126	B;P;B	0.48227	0.096;0.571;0.138	T	0.68051	-0.5511	10	0.48119	T	0.1	.	14.4278	0.67227	1.0:0.0:0.0:0.0	.	424;424;424	B7Z880;Q9NTI2-3;Q9NTI2	.;.;AT8A2_HUMAN	G	464;424;244	ENSP00000371070:D464G;ENSP00000255283:D424G	ENSP00000255283:D424G	D	+	2	0	ATP8A2	25031897	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	6.997000	0.76270	1.883000	0.54544	0.363000	0.22086	GAC		0.373	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529		G	26133897	A	G	26133897	3	3	700	1	0	0	0	0	1	0	0	0	1193	275	10	3	1449	3	ATP8A2	13	26133897	Missense_Mutation	SNP	A	TCGA-KL-8331-01A-11D-2310-10		26133897	89035981	42	38925											
PAN3	255967	hgsc.bcm.edu;ucsc.edu	37	13	28840991	28840991	+	Silent	SNP	A	A	G			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr13:28840991A>G	ENST00000380958.3	+	10	1703	c.1551A>G	c.(1549-1551)ccA>ccG	p.P517P	PAN3_ENST00000399613.1_Silent_p.P317P|PAN3_ENST00000282391.5_Silent_p.P205P	NM_175854.7	NP_787050.6			PAN3 poly(A) specific ribonuclease subunit											endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		ATGATCTGCCATATTGCCTTC	0.353																																																0													64	60	62					13																	28840991		2203	4300	6503	SO:0001819	synonymous_variant	255967			AK091307	CCDS9329.1, CCDS9329.2	13q12.2	2014-03-27	2014-03-27		ENSG00000152520	ENSG00000152520			29991	protein-coding gene	gene with protein product			"PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"			14583602	Standard	NM_175854		Approved		uc001urz.3	Q58A45	OTTHUMG00000016645	ENST00000380958.3:c.1551A>G	13.37:g.28840991A>G				Silent	SNP	ENST00000380958.3	37	CCDS9329.2																																																																																				0.353	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044318.4	NM_175854		G	28840991	A	G	28840991	2	3	700	1	0	0	0	0	0	0	0	1	11417	204	8	3		3	PAN3	13	28840991	Silent	SNP	A	TCGA-KL-8331-01A-11D-2310-10	2707094	28840991	86328887	43	38926											
EAPP	55837	bcgsc.ca	37	14	34998579	34998579	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr14:34998579T>C	ENST00000250454.3	-	4	536	c.455A>G	c.(454-456)gAt>gGt	p.D152G		NM_018453.3	NP_060923.2	Q56P03	EAPP_HUMAN	E2F-associated phosphoprotein	152					negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	12	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)		TCTCTGTGCATCAACCCAGGC	0.318																																																0													156	138	143					14																	34998579		1824	4080	5904	SO:0001583	missense	55837			AF217512	CCDS41941.1	14q13	2007-03-26	2007-03-26	2007-03-26		ENSG00000129518			19312	protein-coding gene	gene with protein product		609486	"chromosome 14 open reading frame 11"	C14orf11		15716352	Standard	NM_018453		Approved	BM036, FLJ20578	uc001wsd.1	Q56P03		ENST00000250454.3:c.455A>G	14.37:g.34998579T>C	ENSP00000250454:p.Asp152Gly		Q9BVF4|Q9NWV5|Q9NZ86	Missense_Mutation	SNP	ENST00000250454.3	37	CCDS41941.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.336998	0.81801	.	.	ENSG00000129518	ENST00000250454;ENST00000554792	T;T	0.45276	0.9;0.9	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.69296	0.3095	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.74982	-0.3478	10	0.59425	D	0.04	-21.4515	15.7004	0.77538	0.0:0.0:0.0:1.0	.	152	Q56P03	EAPP_HUMAN	G	152;131	ENSP00000250454:D152G;ENSP00000450908:D131G	ENSP00000250454:D152G	D	-	2	0	EAPP	34068330	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.040000	0.76551	2.183000	0.69458	0.477000	0.44152	GAT		0.318	EAPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409847.1	NM_018453		C	34998579	T	C	34998579	3	2	700	1	0	0	0	0	1	0	0	0	4879	1435	50	3	414	3	EAPP	14	34998579	Missense_Mutation	SNP	T	TCGA-KL-8331-01A-11D-2310-10		34998579	72350961	44	38927											
PSMC6	5706	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	14	53175080	53175080	+	Missense_Mutation	SNP	C	C	G			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr14:53175080C>G	ENST00000606149.1	+	2	155	c.139C>G	c.(139-141)Ctg>Gtg	p.L47V	PSMC6_ENST00000445930.2_Missense_Mutation_p.L61V	NM_002806.3	NP_002797.3	P62333	PRS10_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 6	47					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|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)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein binding, bridging (GO:0030674)			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19	Breast(41;0.176)					TGAAAATGATCTGAAGGCCCT	0.353																																																0													121	120	120					14																	53175080		2203	4300	6503	SO:0001583	missense	5706				CCDS9710.2	14q22.1	2010-04-21			ENSG00000100519	ENSG00000100519		"Proteasome (prosome, macropain) subunits", "ATPases / AAA-type"	9553	protein-coding gene	gene with protein product		602708				8674546, 9473509	Standard	NM_002806		Approved	p42	uc010tqx.2	P62333	OTTHUMG00000152333	ENST00000606149.1:c.139C>G	14.37:g.53175080C>G	ENSP00000475721:p.Leu47Val		B2R975|P49719|Q6IBU3|Q92524	Missense_Mutation	SNP	ENST00000606149.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.78|15.78	2.934302|2.934302	0.52866|0.52866	.|.	.|.	ENSG00000100519|ENSG00000100519	ENST00000445930|ENST00000556813	D|.	0.94092|.	-3.35|.	5.17|5.17	2.33|2.33	0.28932|0.28932	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.53802|0.53802	0.1819|0.1819	L|L	0.41906|0.41906	1.305|1.305	0.80722|0.80722	D|D	1|1	B|.	0.17852|.	0.024|.	B|.	0.22386|.	0.039|.	T|T	0.41431|0.41431	-0.9509|-0.9509	10|5	0.56958|.	D|.	0.05|.	.|.	10.8766|10.8766	0.46915|0.46915	0.0:0.791:0.0:0.209|0.0:0.791:0.0:0.209	.|.	47|.	P62333|.	PRS10_HUMAN|.	V|C	61|46	ENSP00000401802:L61V|.	ENSP00000401802:L61V|.	L|S	+|+	1|2	2|0	PSMC6|PSMC6	52244830|52244830	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	3.033000|3.033000	0.49743|0.49743	0.276000|0.276000	0.22118|0.22118	0.561000|0.561000	0.74099|0.74099	CTG|TCT		0.353	PSMC6-018	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470741.1	NM_002806		G	53175080	C	G	53175080	3	3	700	1	0	0	0	0	1	0	0	0	12696	912	32	4	187	4	PSMC6	14	53175080	Missense_Mutation	SNP	C	TCGA-KL-8331-01A-11D-2310-10	18176501	53175080	54174460	45	38928											
EIF2AK4	440275	ucsc.edu	37	15	40268998	40268998	+	Missense_Mutation	SNP	G	G	C	rs200699205|rs377237751	byFrequency	TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr15:40268998G>C	ENST00000263791.5	+	12	2245	c.2202G>C	c.(2200-2202)gaG>gaC	p.E734D	EIF2AK4_ENST00000382727.2_Missense_Mutation_p.E734D	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	734	Protein kinase 2. {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)		GCGATGACGAGGACGACGACG	0.682																																																0													48	51	50					15																	40268998		1792	3898	5690	SO:0001583	missense	440275			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.2202G>C	15.37:g.40268998G>C	ENSP00000263791:p.Glu734Asp		C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Missense_Mutation	SNP	ENST00000263791.5	37	CCDS42016.1	.	.	.	.	.	.	.	.	.	.	G	5.494	0.276174	0.10403	.	.	ENSG00000128829	ENST00000263791;ENST00000382727	T;T	0.70749	-0.51;-0.41	5.34	1.05	0.20165	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.232344	0.43579	D	0.000550	T	0.38772	0.1053	N	0.11201	0.11	0.43330	D	0.995364	B	0.02656	0.0	B	0.01281	0.0	T	0.31668	-0.9935	10	0.02654	T	1	-11.3049	3.9743	0.09467	0.0737:0.2643:0.3683:0.2937	.	734	Q9P2K8	E2AK4_HUMAN	D	734	ENSP00000263791:E734D;ENSP00000372174:E734D	ENSP00000263791:E734D	E	+	3	2	EIF2AK4	38056290	0.212000	0.23540	0.997000	0.53966	0.175000	0.22909	-0.226000	0.09139	0.323000	0.23307	-0.196000	0.12772	GAG		0.682	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1			C	40268998	G	C	40268998	3	2	700	1	0	0	0	0	1	0	0	0	5001	991	35	4	2248	4	EIF2AK4	15	40268998	Missense_Mutation	SNP	G	TCGA-KL-8331-01A-11D-2310-10		40268998	62262394	46	38929											
MEF2A	4205	mdanderson.org	37	15	100252741	100252741	+	Missense_Mutation	SNP	A	A	C	rs560400205|rs199811207	byFrequency	TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr15:100252741A>C	ENST00000557785.1	+	11	1608	c.1259A>C	c.(1258-1260)cAg>cCg	p.Q420P	MEF2A_ENST00000354410.5_Missense_Mutation_p.Q422P|MEF2A_ENST00000338042.6_Missense_Mutation_p.Q429P|MEF2A_ENST00000449277.2_Missense_Mutation_p.Q352P|MEF2A_ENST00000557942.1_Missense_Mutation_p.Q428P|MEF2A_ENST00000558812.1_Missense_Mutation_p.Q360P|MEF2A_ENST00000453228.2_Missense_Mutation_p.Q420P	NM_001171894.1	NP_001165365.1	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	430	Gln/Pro-rich.				apoptotic process (GO:0006915)|cardiac conduction (GO:0061337)|cellular response to calcium ion (GO:0071277)|dendrite morphogenesis (GO:0048813)|ERK5 cascade (GO:0070375)|heart development (GO:0007507)|innate immune response (GO:0045087)|MAPK cascade (GO:0000165)|mitochondrial genome maintenance (GO:0000002)|mitochondrion distribution (GO:0048311)|muscle cell differentiation (GO:0042692)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|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)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac myofibril assembly (GO:0055005)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|protein heterodimerization activity (GO:0046982)|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 coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|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)|SMAD binding (GO:0046332)			endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			cagcagcagcagcCGCCGCCA	0.637																																																0													4	8	7					15																	100252741		1603	3215	4818	SO:0001583	missense	4205				CCDS45362.1, CCDS45363.1, CCDS53978.1, CCDS58401.1	15q26	2008-02-05	2007-04-24			ENSG00000068305		"Myocyte enhancer factors"	6993	protein-coding gene	gene with protein product		600660				1516833	Standard	NM_005587		Approved	RSRFC4, RSRFC9	uc002bvf.3	Q02078		ENST00000557785.1:c.1259A>C	15.37:g.100252741A>C	ENSP00000453441:p.Gln420Pro		B4DFQ7|F6XG23|O43814|Q14223|Q14224|Q59GX4|Q7Z6C9|Q96D14	Missense_Mutation	SNP	ENST00000557785.1	37	CCDS53978.1	.	.	.	.	.	.	.	.	.	.	A	0.005	-2.206880	0.00292	.	.	ENSG00000068305	ENST00000453228;ENST00000354410;ENST00000338042;ENST00000449277	T;T;T;T	0.36340	2.91;2.91;2.91;1.26	3.68	-5.59	0.02505	.	.	.	.	.	T	0.14098	0.0341	N	0.02011	-0.69	0.09310	N	1	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0	T	0.29119	-1.0022	9	0.27785	T	0.31	.	15.1199	0.72434	0.7463:0.2537:0.0:0.0	.	430;360;341;420;422;428	Q02078;B4DFQ7;Q7Z6C9;Q02078-6;Q02078-5;Q02078-2	MEF2A_HUMAN;.;.;.;.;.	P	420;422;429;360	ENSP00000404110:Q420P;ENSP00000346389:Q422P;ENSP00000337202:Q429P;ENSP00000399460:Q360P	ENSP00000337202:Q429P	Q	+	2	0	MEF2A	98070264	0.968000	0.33430	0.000000	0.03702	0.025000	0.11179	-0.272000	0.08560	-1.152000	0.02832	-2.562000	0.00173	CAG		0.637	MEF2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415985.1			C	100252741	A	C	100252741	3	2	700	1	0	0	0	0	1	0	0	0	9457	188	7	5	1463	5	MEF2A	15	100252741	Missense_Mutation	SNP	A	TCGA-KL-8331-01A-11D-2310-10	59983743	100252741	2278651	47	38930											
TNRC6A	27327	broad.mit.edu	37	16	24817998	24817998	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr16:24817998T>C	ENST00000395799.3	+	17	4562	c.4433T>C	c.(4432-4434)cTc>cCc	p.L1478P	TNRC6A_ENST00000315183.7_Missense_Mutation_p.L1429P|CTD-2515A14.1_ENST00000568895.1_RNA|TNRC6A_ENST00000432286.2_5'Flank	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1478					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)		CAGCAGCCACTCCATCAGCCA	0.493																																																0													133	113	120					16																	24817998		2197	4300	6497	SO:0001583	missense	27327			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.4433T>C	16.37:g.24817998T>C	ENSP00000379144:p.Leu1478Pro		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	ENST00000395799.3	37	CCDS10624.2	.	.	.	.	.	.	.	.	.	.	T	19.35	3.810610	0.70797	.	.	ENSG00000090905	ENST00000315183;ENST00000395799	T;T	0.14022	2.57;2.54	6.06	6.06	0.98353	.	0.162970	0.43579	D	0.000553	T	0.35799	0.0944	M	0.68317	2.08	0.80722	D	1	B;D;B;D	0.89917	0.012;1.0;0.009;1.0	B;D;B;D	0.74023	0.016;0.982;0.02;0.963	T	0.01982	-1.1235	10	0.32370	T	0.25	-3.8091	16.6154	0.84909	0.0:0.0:0.0:1.0	.	145;617;1429;1478	B3KSX2;C9JA83;Q8NDV7-6;Q8NDV7	.;.;.;TNR6A_HUMAN	P	1429;1478	ENSP00000326900:L1429P;ENSP00000379144:L1478P	ENSP00000326900:L1429P	L	+	2	0	TNRC6A	24725499	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.239000	0.43079	2.315000	0.78130	0.533000	0.62120	CTC		0.493	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		C	24817998	T	C	24817998	3	2	700	1	0	0	0	0	1	0	0	0	16345	1551	54	3	4499	3	TNRC6A	16	24817998	Missense_Mutation	SNP	T	TCGA-KL-8331-01A-11D-2310-10		24817998	65536755	48	38931											
SETD1A	9739	hgsc.bcm.edu;ucsc.edu	37	16	30991933	30991933	+	Silent	SNP	C	C	T	rs56788559	byFrequency	TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr16:30991933C>T	ENST00000262519.8	+	15	5222	c.4536C>T	c.(4534-4536)gaC>gaT	p.D1512D		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1512	Interaction with ASH2L, RBBP5 and WDR5.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						AGTACCTGGACGTGTGCCCAG	0.682													C|||	85	0.0169728	0.0582	0.0101	5008	,	,		12515	0.0		0.001	False		,,,				2504	0.0															0								C		209,4185	127.0+/-164.0	6,197,1994	68	54	59		4536	-1.8	1	16	dbSNP_129	59	13,8587	8.4+/-32.0	0,13,4287	no	coding-synonymous	SETD1A	NM_014712.1		6,210,6281	TT,TC,CC		0.1512,4.7565,1.7085		1512/1708	30991933	222,12772	2197	4300	6497	SO:0001819	synonymous_variant	9739			AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"Chromatin-modifying enzymes / K-methyltransferases", "RNA binding motif (RRM) containing"	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.4536C>T	16.37:g.30991933C>T			A6NP62|Q6PIF3|Q8TAJ6	Silent	SNP	ENST00000262519.8	37	CCDS32435.1																																																																																				0.682	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		T	30991933	C	T	30991933	2	4	700	1	0	0	0	0	0	0	0	1	14136	535	19	1		1	SETD1A	16	30991933	Silent	SNP	C	TCGA-KL-8331-01A-11D-2310-10	6173935	30991933	59362820	49	38932											
NOB1	28987	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	16	69786144	69786144	+	Splice_Site	SNP	C	C	T			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr16:69786144C>T	ENST00000268802.5	-	3	356	c.327G>A	c.(325-327)aaG>aaA	p.K109K		NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	109					visual perception (GO:0007601)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CTTGATTTACCTTCTGTGGTT	0.453																																																0													167	160	162					16																	69786144		2198	4300	6498	SO:0001630	splice_region_variant	28987			AB026125	CCDS10884.1	16q22.1	2008-02-05	2006-04-20	2006-04-20	ENSG00000141101	ENSG00000141101			29540	protein-coding gene	gene with protein product	"nin one binding protein"	613586	"PSMD8 binding protein 1"	PSMD8BP1		16172919	Standard	NM_014062		Approved	NOB1P, ART-4, MST158	uc002exs.4	Q9ULX3	OTTHUMG00000137576	ENST00000268802.5:c.327+1G>A	16.37:g.69786144C>T			Q7L6B7|Q7M4M4|Q7Z4B5|Q9NWB0	Silent	SNP	ENST00000268802.5	37	CCDS10884.1																																																																																				0.453	NOB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268958.2	NM_014062	Silent	T	69786144	C	T	69786144	5	4	700	1	0	0	0	0	0	0	1	0	10513	695	24	2	939	2	NOB1	16	69786144	Splice_Site	SNP	C	TCGA-KL-8331-01A-11D-2310-10	38794211	69786144	20568609	50	38933											
CPNE7	27132	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	16	89650494	89650494	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr16:89650494G>A	ENST00000268720.5	+	6	846	c.716G>A	c.(715-717)aGg>aAg	p.R239K	CPNE7_ENST00000319518.8_Missense_Mutation_p.R164K	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN	copine VII	239	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid metabolic process (GO:0006629)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		TTCCGGGCCAGGAAGCTGGAC	0.687																																																0													57	54	55					16																	89650494		2197	4300	6497	SO:0001583	missense	27132			AJ133798	CCDS10980.1, CCDS10981.1	16q24.3	2008-07-03			ENSG00000178773	ENSG00000178773			2320	protein-coding gene	gene with protein product		605689					Standard	NM_014427		Approved		uc002fnq.3	Q9UBL6	OTTHUMG00000138051	ENST00000268720.5:c.716G>A	16.37:g.89650494G>A	ENSP00000268720:p.Arg239Lys			Missense_Mutation	SNP	ENST00000268720.5	37	CCDS10980.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.332841	0.41297	.	.	ENSG00000178773	ENST00000319518;ENST00000268720	T;T	0.67345	-0.26;-0.26	3.85	-4.18	0.03846	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.886047	0.09884	N	0.743348	T	0.43144	0.1234	N	0.21508	0.67	0.30051	N	0.811796	B;B	0.14805	0.001;0.011	B;B	0.17979	0.003;0.02	T	0.29397	-1.0013	10	0.45353	T	0.12	2.4518	2.2349	0.04005	0.5547:0.1444:0.1562:0.1447	.	164;239	Q9UBL6-2;Q9UBL6	.;CPNE7_HUMAN	K	164;239	ENSP00000317374:R164K;ENSP00000268720:R239K	ENSP00000268720:R239K	R	+	2	0	CPNE7	88177995	1.000000	0.71417	0.974000	0.42286	0.882000	0.50991	1.392000	0.34486	-0.429000	0.07329	0.491000	0.48974	AGG		0.687	CPNE7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269929.2			A	89650494	G	A	89650494	3	1	700	1	0	0	0	0	1	0	0	0	3819	1000	35	2	738	2	CPNE7	16	89650494	Missense_Mutation	SNP	G	TCGA-KL-8331-01A-11D-2310-10	19864350	89650494	704259	51	38934											
TRIM16	10626	ucsc.edu	37	17	15539560	15539560	+	Silent	SNP	C	C	T	rs9911397	byFrequency	TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr17:15539560C>T	ENST00000578237.1	-	8	1494	c.639G>A	c.(637-639)gcG>gcA	p.A213A	TRIM16_ENST00000416464.2_Silent_p.A83A|TRIM16_ENST00000581224.1_5'UTR|TRIM16_ENST00000579219.1_5'UTR|RP11-385D13.1_ENST00000455584.2_Silent_p.A213A|TRIM16_ENST00000577886.1_5'UTR|TRIM16_ENST00000336708.7_Silent_p.A213A			O95361	TRI16_HUMAN	tripartite motif containing 16	213					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)		TTTCAGCCACCGCTTTGACCT	0.542													T|||	103	0.0205671	0.056	0.0058	5008	,	,		18784	0.0159		0.0	False		,,,				2504	0.0092															0								T		128,4238		10,108,2065	88	87	87		639	-2.5	0	17	dbSNP_119	87	7,8585		0,7,4289	no	coding-synonymous	TRIM16	NM_006470.3		10,115,6354	TT,TC,CC		0.0815,2.9317,1.0418		213/565	15539560	135,12823	2183	4296	6479	SO:0001819	synonymous_variant	10626			AF096870	CCDS11171.1	17p11.2	2011-04-20	2011-01-25		ENSG00000221926	ENSG00000221926		"Tripartite motif containing / Tripartite motif containing"	17241	protein-coding gene	gene with protein product	"estrogen-responsive B box protein"	609505	"tripartite motif-containing 16"			11331580	Standard	NM_006470		Approved	EBBP	uc002gor.1	O95361	OTTHUMG00000059067	ENST00000578237.1:c.639G>A	17.37:g.15539560C>T			Q6IAL8|Q7Z6I2|Q96BE8|Q96J43	Silent	SNP	ENST00000578237.1	37	CCDS11171.1	75	0.034340659340659344	26	0.052845528455284556	2	0.0055248618784530384	17	0.02972027972027972	30	0.0395778364116095	N	2.714	-0.268218	0.05716	0.029317	8.15E-4	ENSG00000251537	ENST00000455584	.	.	.	3.97	-2.49	0.06403	.	.	.	.	.	T	0.05318	0.0141	.	.	.	0.29227	P	0.8735310000000001	.	.	.	.	.	.	T	0.29761	-1.0001	3	.	.	.	.	5.9626	0.19308	0.1152:0.4782:0.3216:0.0851	rs9911397	.	.	.	Q	228	.	.	R	-	2	0	RP11-385D13.1	15480285	0.014000	0.17966	0.006000	0.13384	0.385000	0.30292	0.258000	0.18387	-0.436000	0.07254	-1.246000	0.01523	CGG		0.542	TRIM16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130700.2	NM_006470		T	15539560	C	T	15539560	2	4	700	1	0	0	0	0	0	0	0	1	16496	639	23	1		1	TRIM16	17	15539560	Silent	SNP	C	TCGA-KL-8331-01A-11D-2310-10		15539560	65655650	52	38935											
AKAP10	11216	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	17	19823386	19823386	+	Silent	SNP	T	T	C	rs1049591		TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr17:19823386T>C	ENST00000225737.6	-	12	1954	c.1797A>G	c.(1795-1797)cgA>cgG	p.R599R	AKAP10_ENST00000395536.3_Silent_p.R541R	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN	A kinase (PRKA) anchor protein 10	599					blood coagulation (GO:0007596)|protein localization (GO:0008104)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)				NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					GCTCAGATTCTCGGATGAATT	0.348																																																0													119	110	113					17																	19823386		2203	4300	6503	SO:0001819	synonymous_variant	11216			AF037439	CCDS11214.1	17p11.1	2008-07-18			ENSG00000108599	ENSG00000108599		"A-kinase anchor proteins"	368	protein-coding gene	gene with protein product	"dual-specificity A-kinase anchoring protein 2", "protein kinase A anchoring protein 10", "mitochondrial A kinase PPKA anchor protein 10"	604694				9326583	Standard	NM_007202		Approved	D-AKAP2, PRKA10, MGC9414	uc002gwo.4	O43572	OTTHUMG00000059515	ENST00000225737.6:c.1797A>G	17.37:g.19823386T>C			B2R650|Q96AJ7	Silent	SNP	ENST00000225737.6	37	CCDS11214.1																																																																																				0.348	AKAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132380.2	NM_007202		C	19823386	T	C	19823386	2	2	700	1	0	0	0	0	0	0	0	1	446	1538	54	3		3	AKAP10	17	19823386	Silent	SNP	T	TCGA-KL-8331-01A-11D-2310-10	4283826	19823386	61371824	53	38936											
TRIM37	4591	ucsc.edu;bcgsc.ca	37	17	57153067	57153067	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr17:57153067T>C	ENST00000262294.7	-	8	884	c.625A>G	c.(625-627)Aca>Gca	p.T209A	TRIM37_ENST00000393066.3_Missense_Mutation_p.T209A|TRIM37_ENST00000393065.2_Missense_Mutation_p.T175A|TRIM37_ENST00000376149.3_Missense_Mutation_p.T87A	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	209					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)					GTTAGAGATGTCTTCTGACCT	0.323									Mulibrey Nanism																																							0													93	88	90					17																	57153067		2203	4300	6503	SO:0001583	missense	4591	Familial Cancer Database	Perheentupa syndrome	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	7523	protein-coding gene	gene with protein product	"RING-B-box-coiled-coil protein"	605073	"tripartite motif-containing 37"	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.625A>G	17.37:g.57153067T>C	ENSP00000262294:p.Thr209Ala		Q7Z3E6|Q8IYF7|Q8WYF7	Missense_Mutation	SNP	ENST00000262294.7	37	CCDS32694.1	.	.	.	.	.	.	.	.	.	.	T	15.43	2.832688	0.50845	.	.	ENSG00000108395	ENST00000393066;ENST00000262294;ENST00000376149;ENST00000393065	T;T;T;T	0.64438	1.67;1.67;-0.1;1.25	5.4	5.4	0.78164	B-box, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.63390	0.2507	N	0.19112	0.55	0.58432	D	0.999991	B;D;B	0.71674	0.175;0.998;0.011	B;D;B	0.63283	0.088;0.913;0.024	T	0.62581	-0.6824	10	0.30078	T	0.28	-0.6	14.5977	0.68419	0.0:0.0:0.0:1.0	.	175;87;209	F8WEE6;O94972-2;O94972	.;.;TRI37_HUMAN	A	209;209;87;175	ENSP00000376785:T209A;ENSP00000262294:T209A;ENSP00000365319:T87A;ENSP00000376784:T175A	ENSP00000262294:T209A	T	-	1	0	TRIM37	54507849	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.847000	0.86896	2.043000	0.60533	0.477000	0.44152	ACA		0.323	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445930.1	NM_015294		C	57153067	T	C	57153067	3	2	700	1	0	0	0	0	1	0	0	0	16516	1667	58	3	2345	3	TRIM37	17	57153067	Missense_Mutation	SNP	T	TCGA-KL-8331-01A-11D-2310-10	37329681	57153067	24042143	54	38937											
PTPRM	5797	ucsc.edu	37	18	8376084	8376084	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr18:8376084T>C	ENST00000332175.8	+	23	4210	c.3173T>C	c.(3172-3174)tTc>tCc	p.F1058S	PTPRM_ENST00000580170.1_Missense_Mutation_p.F1071S|PTPRM_ENST00000400053.4_Missense_Mutation_p.F996S|PTPRM_ENST00000444013.1_Missense_Mutation_p.F845S|PTPRM_ENST00000400060.4_Missense_Mutation_p.F1072S	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1058	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)				CAGTTTCACTTCACTGGCTGG	0.547																																																0													85	83	84					18																	8376084		2203	4300	6503	SO:0001583	missense	5797			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.3173T>C	18.37:g.8376084T>C	ENSP00000331418:p.Phe1058Ser		A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	T	34	5.315556	0.95655	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.33865	1.39;1.39;1.39;1.39	6.04	6.04	0.98038	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.094058	0.85682	D	0.000000	T	0.70753	0.3260	M	0.93150	3.385	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	0.79200	-0.1901	10	0.87932	D	0	.	16.6349	0.85050	0.0:0.0:0.0:1.0	.	845;1071;1058	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	S	1058;1072;996;845	ENSP00000331418:F1058S;ENSP00000382933:F1072S;ENSP00000382927:F996S;ENSP00000387608:F845S	ENSP00000331418:F1058S	F	+	2	0	PTPRM	8366084	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.330000	0.79161	0.477000	0.44152	TTC		0.547	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			C	8376084	T	C	8376084	3	2	700	1	0	0	0	0	1	0	0	0	12812	1783	62	3	3310	3	PTPRM	18	8376084	Missense_Mutation	SNP	T	TCGA-KL-8331-01A-11D-2310-10		8376084	69701164	55	38938											
MAPK4	5596	ucsc.edu	37	18	48248403	48248403	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr18:48248403T>C	ENST00000400384.2	+	4	1823	c.787T>C	c.(787-789)Ttt>Ctt	p.F263L	MAPK4_ENST00000540640.1_Missense_Mutation_p.F52L|MAPK4_ENST00000592595.1_Intron	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	263	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)			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		GATGCCTTCCTTTGTCAGCAG	0.597																																																0													73	82	79					18																	48248403		2074	4217	6291	SO:0001583	missense	5596			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.787T>C	18.37:g.48248403T>C	ENSP00000383234:p.Phe263Leu		A1A4C4|Q0VG04	Missense_Mutation	SNP	ENST00000400384.2	37	CCDS42437.1	.	.	.	.	.	.	.	.	.	.	T	15.84	2.953295	0.53293	.	.	ENSG00000141639	ENST00000400384;ENST00000540640	T;T	0.40756	1.02;1.02	5.24	5.24	0.73138	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	0.31040	0.0784	L	0.35542	1.07	0.80722	D	1	B	0.15719	0.014	B	0.21360	0.034	T	0.10086	-1.0645	10	0.08381	T	0.77	-8.0962	14.108	0.65104	0.0:0.0:0.0:1.0	.	263	P31152	MK04_HUMAN	L	263;52	ENSP00000383234:F263L;ENSP00000439231:F52L	ENSP00000383234:F263L	F	+	1	0	MAPK4	46502401	1.000000	0.71417	0.692000	0.30179	0.993000	0.82548	5.037000	0.64170	1.982000	0.57802	0.459000	0.35465	TTT		0.597	MAPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448631.2	NM_002747		C	48248403	T	C	48248403	3	2	700	1	0	0	0	0	1	0	0	0	9282	1609	56	3	797	3	MAPK4	18	48248403	Missense_Mutation	SNP	T	TCGA-KL-8331-01A-11D-2310-10	39872319	48248403	29828845	56	38939											
ZNF676	163223	mdanderson.org	37	19	22363631	22363631	+	Silent	SNP	G	G	A	rs75683199	byFrequency	TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr19:22363631G>A	ENST00000397121.2	-	3	1205	c.888C>T	c.(886-888)ctC>ctT	p.L296L		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	296					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)				TATGTTCCATGAGCTTTGAGG	0.438																																																0													96	100	98					19																	22363631		2141	4270	6411	SO:0001819	synonymous_variant	163223			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.888C>T	19.37:g.22363631G>A			A8MVX5	Silent	SNP	ENST00000397121.2	37	CCDS42539.1																																																																																				0.438	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		A	22363631	G	A	22363631	2	1	700	1	0	0	0	0	0	0	0	1	18088	1277	45	2		2	ZNF676	19	22363631	Silent	SNP	G	TCGA-KL-8331-01A-11D-2310-10		22363631	36765352	57	38940	311	2									
ZNF676	163223	mdanderson.org	37	19	22363634	22363634	+	Missense_Mutation	SNP	C	C	A	rs76456473	byFrequency	TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr19:22363634C>A	ENST00000397121.2	-	3	1202	c.885G>T	c.(883-885)aaG>aaT	p.K295N		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	295					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)				GTTCCATGAGCTTTGAGGACG	0.433																																																0													98	102	100					19																	22363634		2149	4273	6422	SO:0001583	missense	163223			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.885G>T	19.37:g.22363634C>A	ENSP00000380310:p.Lys295Asn		A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	0.001	-3.874663	0.00003	.	.	ENSG00000196109	ENST00000397121	T	0.07908	3.15	0.85	-1.7	0.08159	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02156	0.0067	N	0.02775	-0.495	0.09310	N	1	P	0.40731	0.728	B	0.37833	0.259	T	0.20940	-1.0260	9	0.08381	T	0.77	.	0.8725	0.01217	0.1932:0.2181:0.3753:0.2135	.	295	Q8N7Q3	ZN676_HUMAN	N	295	ENSP00000380310:K295N	ENSP00000380310:K295N	K	-	3	2	ZNF676	22155474	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-1.885000	0.01620	-1.157000	0.02815	-1.151000	0.01829	AAG		0.433	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		A	22363634	C	A	22363634	3	1	700	1	0	0	0	0	1	0	0	0	18088	796	28	4	885	4	ZNF676	19	22363634	Missense_Mutation	SNP	C	TCGA-KL-8331-01A-11D-2310-10	3	22363634	36765349	58	38941	311	2									
IRGQ	126298	ucsc.edu	37	19	44099393	44099393	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr19:44099393T>C	ENST00000602269.1	-	1	283	c.98A>G	c.(97-99)gAg>gGg	p.E33G	SRRM5_ENST00000607544.1_5'Flank|IRGQ_ENST00000601520.1_5'Flank|ZNF576_ENST00000336564.4_5'Flank|L34079.2_ENST00000594374.1_5'Flank|ZNF576_ENST00000528387.1_5'Flank|ZNF576_ENST00000525771.1_5'Flank|ZNF576_ENST00000533118.1_5'Flank|IRGQ_ENST00000422989.1_Missense_Mutation_p.E33G|ZNF576_ENST00000529930.1_5'Flank|SRRM5_ENST00000526798.1_5'Flank|ZNF576_ENST00000391965.2_5'Flank			Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	33										endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				CTCGAGCGTCTCCACATCCTT	0.701																																																0													21	21	21					19																	44099393		2150	4193	6343	SO:0001583	missense	126298			AF322648	CCDS33040.1	19q13.31	2013-07-03	2005-10-31	2005-10-31		ENSG00000167378			24868	protein-coding gene	gene with protein product			"immunity-related GTPase family, Q1"	IRGQ1		16277747	Standard	NM_001007561		Approved	FKSG27	uc010eiv.2	Q8WZA9		ENST00000602269.1:c.98A>G	19.37:g.44099393T>C	ENSP00000472250:p.Glu33Gly		B2RNP3	Missense_Mutation	SNP	ENST00000602269.1	37	CCDS33040.1	.	.	.	.	.	.	.	.	.	.	T	16.15	3.041069	0.55003	.	.	ENSG00000167378	ENST00000422989	T	0.53857	0.6	4.0	4.0	0.46444	.	0.317825	0.23060	N	0.052388	T	0.34919	0.0914	N	0.24115	0.695	0.26975	N	0.965488	P	0.40731	0.728	B	0.36186	0.219	T	0.28459	-1.0043	10	0.52906	T	0.07	-6.2115	9.4967	0.38993	0.0:0.0:0.0:1.0	.	33	Q8WZA9	IRGQ_HUMAN	G	33	ENSP00000387535:E33G	ENSP00000387535:E33G	E	-	2	0	IRGQ	48791233	0.971000	0.33674	0.921000	0.36526	0.587000	0.36485	1.979000	0.40608	1.802000	0.52723	0.459000	0.35465	GAG		0.701	IRGQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463205.1	NM_001007561		C	44099393	T	C	44099393	3	2	700	1	0	0	0	0	1	0	0	0	7841	1551	54	3	1781	3	IRGQ	19	44099393	Missense_Mutation	SNP	T	TCGA-KL-8331-01A-11D-2310-10	21735759	44099393	15029590	59	38942											
CD33	945	broad.mit.edu	37	19	51738423	51738423	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr19:51738423A>G	ENST00000262262.4	+	5	778	c.757A>G	c.(757-759)Acc>Gcc	p.T253A	CD33_ENST00000436584.2_Missense_Mutation_p.T126A|CD33_ENST00000421133.2_Missense_Mutation_p.T126A|CD33_ENST00000391796.3_Missense_Mutation_p.T253A	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	253					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|negative regulation of cell proliferation (GO:0008285)|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)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	GAAACAAGAGACCAGAGCAGG	0.478																																																0													115	101	106					19																	51738423		2203	4300	6503	SO:0001583	missense	945			M23197	CCDS33084.1, CCDS46157.1, CCDS54299.1	19q13.3	2013-01-29	2006-03-28		ENSG00000105383	ENSG00000105383		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1659	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 3"	159590	"CD33 antigen (gp67)"			3139766, 9465907	Standard	NM_001772		Approved	SIGLEC3, SIGLEC-3, p67, FLJ00391	uc002pwa.2	P20138		ENST00000262262.4:c.757A>G	19.37:g.51738423A>G	ENSP00000262262:p.Thr253Ala		B4E3P8|C9JEN7|F8WAL2|Q8TD24	Missense_Mutation	SNP	ENST00000262262.4	37	CCDS33084.1	.	.	.	.	.	.	.	.	.	.	.	0.579	-0.837998	0.02692	.	.	ENSG00000105383	ENST00000436584;ENST00000262262;ENST00000421133;ENST00000391796	T;T;T;T	0.36699	1.24;3.53;3.53;2.3	3.94	-2.66	0.06077	.	.	.	.	.	T	0.23806	0.0576	L	0.54323	1.7	0.09310	N	1	B;B;B	0.17667	0.006;0.023;0.022	B;B;B	0.12837	0.002;0.007;0.008	T	0.31888	-0.9927	9	0.20519	T	0.43	.	0.8704	0.01213	0.3285:0.3269:0.1846:0.16	.	126;253;253	C9JEN7;F8WAL2;P20138	.;.;CD33_HUMAN	A	126;253;126;253	ENSP00000403331:T126A;ENSP00000262262:T253A;ENSP00000410126:T126A;ENSP00000375673:T253A	ENSP00000262262:T253A	T	+	1	0	CD33	56430235	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-2.492000	0.00973	-0.322000	0.08615	-0.496000	0.04628	ACC		0.478	CD33-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464199.2	NM_001772		G	51738423	A	G	51738423	3	3	700	1	0	0	0	0	1	0	0	0	3007	275	10	3	775	3	CD33	19	51738423	Missense_Mutation	SNP	A	TCGA-KL-8331-01A-11D-2310-10	7639030	51738423	7390560	60	38943											
IGLON5	402665	broad.mit.edu;ucsc.edu;mdanderson.org	37	19	51828628	51828628	+	Silent	SNP	G	G	A			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr19:51828628G>A	ENST00000270642.8	+	4	420	c.420G>A	c.(418-420)tcG>tcA	p.S140S		NM_001101372.1	NP_001094842.1	A6NGN9	IGLO5_HUMAN	IgLON family member 5	140	Ig-like C2-type 2.					extracellular region (GO:0005576)				large_intestine(5)|lung(6)|prostate(1)	12						ACATCTCGTCGCCTGTGACGG	0.647																																																0													36	40	39					19																	51828628		2099	4214	6313	SO:0001819	synonymous_variant	402665				CCDS46158.1	19q13.33	2013-01-29			ENSG00000142549	ENSG00000142549		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	34550	protein-coding gene	gene with protein product							Standard	NM_001101372		Approved	LOC402665	uc002pwc.2	A6NGN9	OTTHUMG00000154422	ENST00000270642.8:c.420G>A	19.37:g.51828628G>A				Silent	SNP	ENST00000270642.8	37	CCDS46158.1																																																																																				0.647	IGLON5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335149.1	NM_001101372		A	51828628	G	A	51828628	2	1	700	1	0	0	0	0	0	0	0	1	7597	1074	38	1		1	IGLON5	19	51828628	Silent	SNP	G	TCGA-KL-8331-01A-11D-2310-10	90205	51828628	7300355	61	38944											
CSNK2A1	1457	mdanderson.org	37	20	464702	464702	+	Missense_Mutation	SNP	G	G	A	rs61747403		TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr20:464702G>A	ENST00000217244.3	-	14	1454	c.1079C>T	c.(1078-1080)aCc>aTc	p.T360I	CSNK2A1_ENST00000400227.3_Intron|CSNK2A1_ENST00000400217.2_Missense_Mutation_p.T224I|CSNK2A1_ENST00000349736.5_Missense_Mutation_p.T360I	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																																																0													30	28	28					20																	464702		2202	4300	6502	SO:0001583	missense	1457			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		B4DYS6|D3DVV8|P19138|P20426|Q14013|Q5U065	Missense_Mutation	SNP	ENST00000217244.3	37	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		A	464702	G	A	464702	3	1	700	1	0	0	0	0	1	0	0	0	3959	1261	44	2	100	2	CSNK2A1	20	464702	Missense_Mutation	SNP	G	TCGA-KL-8331-01A-11D-2310-10		464702	62560818	62	38945											
NCOA3	8202	broad.mit.edu;bcgsc.ca	37	20	46266522	46266522	+	Missense_Mutation	SNP	C	C	A			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr20:46266522C>A	ENST00000371998.3	+	13	2698	c.2507C>A	c.(2506-2508)tCt>tAt	p.S836Y	NCOA3_ENST00000341724.6_Missense_Mutation_p.S846Y|NCOA3_ENST00000372004.3_Missense_Mutation_p.S836Y|NCOA3_ENST00000371997.3_Missense_Mutation_p.S846Y			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	836					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						GGAACTAATTCTCTGGGTAAG	0.358																																																0													148	146	147					20																	46266522		2203	4300	6503	SO:0001583	missense	8202			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.2507C>A	20.37:g.46266522C>A	ENSP00000361066:p.Ser836Tyr		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Missense_Mutation	SNP	ENST00000371998.3	37	CCDS13407.1	.	.	.	.	.	.	.	.	.	.	C	13.61	2.289393	0.40494	.	.	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997	T;T;T;T	0.02345	4.36;4.49;4.48;4.33	5.38	5.38	0.77491	.	0.328975	0.30383	N	0.009756	T	0.06826	0.0174	L	0.59436	1.845	0.40523	D	0.98085	P;P;B;P;P;P	0.50272	0.823;0.933;0.437;0.823;0.573;0.732	B;P;B;B;B;B	0.44477	0.321;0.451;0.223;0.321;0.397;0.321	T	0.11470	-1.0586	10	0.56958	D	0.05	-11.602	19.0809	0.93180	0.0:1.0:0.0:0.0	.	836;846;840;836;836;836	A8K0W8;Q9Y6Q9-3;Q59EE8;Q0IIN7;Q9Y6Q9-5;Q9Y6Q9	.;.;.;.;.;NCOA3_HUMAN	Y	836;846;836;836;846	ENSP00000342123:S846Y;ENSP00000361073:S836Y;ENSP00000361066:S836Y;ENSP00000361065:S846Y	ENSP00000345671:S836Y	S	+	2	0	NCOA3	45699929	0.310000	0.24527	0.995000	0.50966	0.367000	0.29736	2.668000	0.46816	2.680000	0.91292	0.655000	0.94253	TCT		0.358	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		A	46266522	C	A	46266522	3	1	700	1	0	0	0	0	1	0	0	0	10232	913	32	4	2579	4	NCOA3	20	46266522	Missense_Mutation	SNP	C	TCGA-KL-8331-01A-11D-2310-10	45801820	46266522	16758998	63	38946											
ZNF831	128611	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	20	57768140	57768140	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr20:57768140C>T	ENST00000371030.2	+	1	2066	c.2066C>T	c.(2065-2067)aCg>aTg	p.T689M		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	689							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)					GCAGGGGCAACGCCAGAGCCT	0.617																																																0													29	36	34					20																	57768140		2050	4184	6234	SO:0001583	missense	128611			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 174"	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.2066C>T	20.37:g.57768140C>T	ENSP00000360069:p.Thr689Met		Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	C	10.39	1.337178	0.24253	.	.	ENSG00000124203	ENST00000371030	T	0.04454	3.62	4.54	-9.07	0.00724	.	1.784740	0.02778	N	0.120580	T	0.01835	0.0058	N	0.08118	0	0.09310	N	1	D	0.53151	0.958	B	0.35182	0.197	T	0.44862	-0.9300	10	0.66056	D	0.02	-0.8026	4.1301	0.10146	0.304:0.1204:0.4648:0.1108	.	689	Q5JPB2	ZN831_HUMAN	M	689	ENSP00000360069:T689M	ENSP00000360069:T689M	T	+	2	0	ZNF831	57201535	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.345000	0.02637	-2.321000	0.00641	-0.902000	0.02854	ACG		0.617	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		T	57768140	C	T	57768140	3	4	700	1	0	0	0	0	1	0	0	0	18190	536	19	1	2068	1	ZNF831	20	57768140	Missense_Mutation	SNP	C	TCGA-KL-8331-01A-11D-2310-10	11501618	57768140	5257380	64	38947											
GRIK1	2897	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	21	30963507	30963507	+	Silent	SNP	C	C	T	rs144528849		TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr21:30963507C>T	ENST00000399907.1	-	10	1701	c.1290G>A	c.(1288-1290)acG>acA	p.T430T	GRIK1_ENST00000535441.1_Silent_p.T432T|GRIK1_ENST00000389124.2_Silent_p.T430T|GRIK1_ENST00000309434.7_Silent_p.T432T|GRIK1_ENST00000399913.1_Silent_p.T430T|GRIK1_ENST00000399909.1_Silent_p.T415T|GRIK1_ENST00000399914.1_Silent_p.T415T|GRIK1_ENST00000327783.4_Silent_p.T430T|GRIK1_ENST00000389125.3_Silent_p.T415T	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	430					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)	p.T430T(1)|p.T415T(1)		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)	TGTTGCTGTCCGTCATGTTAA	0.448																																																2	Substitution - coding silent(2)	large_intestine(2)						C	,	2,4404	4.2+/-10.8	0,2,2201	397	313	341		1290,1245	-10.1	0.1	21	dbSNP_134	341	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	GRIK1	NM_000830.3,NM_175611.2	,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,	430/919,415/906	30963507	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	2897				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.1290G>A	21.37:g.30963507C>T			Q13001|Q86SU9	Silent	SNP	ENST00000399907.1	37	CCDS42913.1																																																																																				0.448	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1			T	30963507	C	T	30963507	2	4	700	1	0	0	0	0	0	0	0	1	6775	639	23	1		1	GRIK1	21	30963507	Silent	SNP	C	TCGA-KL-8331-01A-11D-2310-10		30963507	17166388	65	38948											
ARSF	416	broad.mit.edu	37	X	2986145	2986145	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chrX:2986145delA	ENST00000381127.1	+	2	225	c.4delA	c.(4-6)aggfs	p.R2fs	ARSF_ENST00000359361.2_Frame_Shift_Del_p.R2fs|ARSF_ENST00000537104.1_Intron	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	2					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)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		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)				CTGCACAATGAGGCCCAGGTA	0.363																																																0													112	91	98					X																	2986145		2203	4300	6503	SO:0001589	frameshift_variant	416			X97868	CCDS14123.1	Xp22.3	2013-02-14			ENSG00000062096	ENSG00000062096		"Arylsulfatase family"	721	protein-coding gene	gene with protein product		300003				7720070	Standard	NM_004042		Approved		uc022brz.1	P54793	OTTHUMG00000021081	ENST00000381127.1:c.4delA	X.37:g.2986145delA	ENSP00000370519:p.Arg2fs		Q8TCC5	Frame_Shift_Del	DEL	ENST00000381127.1	37	CCDS14123.1																																																																																				0.363	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055652.1			-	2986145	A	-	2986145	7	5	700	1	0	1	0	1	0	0	0	0	991	295	11	0	6	0	ARSF	23	2986145	Frame_Shift_Del	DEL	A	TCGA-KL-8331-01A-11D-2310-10		2986145	152284415	66	38949											
USP9X	8239	broad.mit.edu	37	X	41029423	41029423	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chrX:41029423G>A	ENST00000324545.8	+	19	3445	c.2812G>A	c.(2812-2814)Ggt>Agt	p.G938S	USP9X_ENST00000378308.2_Missense_Mutation_p.G938S	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	938					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						CTTTGTGGGCGGTGAGCTGAT	0.343																																					Ovarian(172;1807 2695 35459 49286)											0													80	73	75					X																	41029423		2109	4244	6353	SO:0001583	missense	8239			X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"Ubiquitin-specific peptidases"	12632	protein-coding gene	gene with protein product		300072	"ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)", "ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)", "ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.2812G>A	X.37:g.41029423G>A	ENSP00000316357:p.Gly938Ser		O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	G	30	5.052267	0.93793	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.03468	3.93;3.92	5.85	5.85	0.93711	.	0.092526	0.85682	D	0.000000	T	0.16896	0.0406	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	0.998;1.0	P;D	0.65140	0.706;0.932	T	0.00052	-1.2191	10	0.54805	T	0.06	.	19.0483	0.93030	0.0:0.0:1.0:0.0	.	938;938	Q93008-1;Q93008	.;USP9X_HUMAN	S	938	ENSP00000367558:G938S;ENSP00000316357:G938S	ENSP00000316357:G938S	G	+	1	0	USP9X	40914367	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	7.863000	0.87023	2.448000	0.82819	0.594000	0.82650	GGT		0.343	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		A	41029423	G	A	41029423	3	1	700	1	0	0	0	0	1	0	0	0	17095	1116	39	1	2882	1	USP9X	23	41029423	Missense_Mutation	SNP	G	TCGA-KL-8331-01A-11D-2310-10	38043278	41029423	114241137	67	38950											
PCDH19	57526	broad.mit.edu;mdanderson.org	37	X	99661925	99661925	+	Silent	SNP	G	G	A	rs267606933		TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chrX:99661925G>A	ENST00000373034.4	-	1	3346	c.1671C>T	c.(1669-1671)aaC>aaT	p.N557N	PCDH19_ENST00000420881.2_Silent_p.N557N|PCDH19_ENST00000255531.7_Silent_p.N557N	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	557	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.		N -> K (in EIEE9). {ECO:0000269|PubMed:18469813, ECO:0000269|PubMed:19752159}.		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						GGGTGTTGTCGTTGACGTCGA	0.582																																																0			GRCh37	CM081730	PCDH19	M							125	122	123					X																	99661925		2158	4240	6398	SO:0001819	synonymous_variant	57526			AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"Cadherins / Protocadherins : Non-clustered"	14270	protein-coding gene	gene with protein product		300460	"epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.1671C>T	X.37:g.99661925G>A			B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Silent	SNP	ENST00000373034.4	37	CCDS55462.1																																																																																				0.582	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		A	99661925	G	A	99661925	2	1	700	1	0	0	0	0	0	0	0	1	11516	1136	40	1		1	PCDH19	23	99661925	Silent	SNP	G	TCGA-KL-8331-01A-11D-2310-10	58632502	99661925	55608635	68	38951											
HS6ST2	90161	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	X	132091342	132091342	+	Missense_Mutation	SNP	C	C	A			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chrX:132091342C>A	ENST00000370836.2	-	3	856	c.441G>T	c.(439-441)atG>atT	p.M147I	HS6ST2_ENST00000521489.1_Missense_Mutation_p.M147I|HS6ST2_ENST00000370833.2_Start_Codon_SNP_p.M1I	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	147					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					ATTTCTCATCCATGTTCCCGA	0.617																																																0													40	41	41					X																	132091342		2044	4167	6211	SO:0001583	missense	90161			AB067776	CCDS48169.1, CCDS48170.1	Xq26.2	2008-02-05			ENSG00000171004	ENSG00000171004		"Sulfotransferases, membrane-bound"	19133	protein-coding gene	gene with protein product		300545				10644753	Standard	NM_147175		Approved		uc011mvd.1	Q96MM7	OTTHUMG00000022430	ENST00000370836.2:c.441G>T	X.37:g.132091342C>A	ENSP00000359873:p.Met147Ile		B9WRT4|B9WRT5|E9PDY5|Q2TB13|Q4VC07|Q6PIC4|Q86SM9|Q8N3T4|Q8NBN4|Q96SJ4	Missense_Mutation	SNP	ENST00000370836.2	37	CCDS48169.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.781470	0.49891	.	.	ENSG00000171004	ENST00000370837;ENST00000370836;ENST00000521489;ENST00000370833	T;T;T;T	0.79749	-1.2;-0.83;-0.98;-1.3	5.48	4.56	0.56223	.	0.466802	0.24211	N	0.040537	T	0.68210	0.2976	N	0.08118	0	0.80722	D	1	D;D	0.59357	0.985;0.985	P;P	0.47251	0.542;0.542	T	0.74791	-0.3545	10	0.87932	D	0	-13.3626	11.6659	0.51372	0.1775:0.8225:0.0:0.0	.	147;147	Q96MM7;E9PDY5	H6ST2_HUMAN;.	I	1;147;147;1	ENSP00000359874:M1I;ENSP00000359873:M147I;ENSP00000429473:M147I;ENSP00000359870:M1I	ENSP00000359870:M1I	M	-	3	0	HS6ST2	131919024	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.358000	0.66064	2.292000	0.77174	0.529000	0.55759	ATG		0.617	HS6ST2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058332.3	NM_147174		A	132091342	C	A	132091342	3	1	700	1	0	0	0	0	1	0	0	0	7373	594	21	4	1512	4	HS6ST2	23	132091342	Missense_Mutation	SNP	C	TCGA-KL-8331-01A-11D-2310-10	32429417	132091342	23179218	69	38952											
PASD1	139135	broad.mit.edu;mdanderson.org;bcgsc.ca	37	X	150817086	150817086	+	Splice_Site	SNP	G	G	A			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chrX:150817086G>A	ENST00000370357.4	+	9	874		c.e9-1			NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1							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)					CCTATTTATAGTAGCTCTCAA	0.383																																																0													140	134	136					X																	150817086		2203	4300	6503	SO:0001630	splice_region_variant	139135			AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"cancer/testis antigen 63"					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.630-1G>A	X.37:g.150817086G>A			Q3MNE0|Q69HD7|Q8N7X9	Splice_Site	SNP	ENST00000370357.4	37	CCDS35431.1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.830713	0.32329	.	.	ENSG00000166049	ENST00000370357	.	.	.	4.14	4.14	0.48551	.	.	.	.	.	.	.	.	.	.	.	0.53688	D	0.999971	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5831	0.50902	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PASD1	150567742	0.038000	0.19896	0.028000	0.17463	0.176000	0.22953	1.554000	0.36266	2.014000	0.59158	0.422000	0.28245	.		0.383	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493	Intron	A	150817086	G	A	150817086	5	1	700	1	0	0	0	0	0	0	1	0	11473	1043	36	2	659	2	PASD1	23	150817086	Splice_Site	SNP	G	TCGA-KL-8331-01A-11D-2310-10	18725744	150817086	4453474	70	38953											
MAGEA10	4109	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	X	151303811	151303811	+	Silent	SNP	G	G	A			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chrX:151303811G>A	ENST00000370323.4	-	4	598	c.282C>T	c.(280-282)ccC>ccT	p.P94P	RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_Silent_p.P94P	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	94						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)					CAACGACCGAGGGGGAGGAGC	0.547																																																0													172	174	174					X																	151303811		2203	4300	6503	SO:0001819	synonymous_variant	4109				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.282C>T	X.37:g.151303811G>A				Silent	SNP	ENST00000370323.4	37	CCDS14705.1																																																																																				0.547	MAGEA10-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060916.3	NM_021048		A	151303811	G	A	151303811	2	1	700	1	0	0	0	0	0	0	0	1	9166	987	35	2		2	MAGEA10	23	151303811	Silent	SNP	G	TCGA-KL-8331-01A-11D-2310-10	486725	151303811	3966749	71	38954											
ZNF185	7739	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	X	152091354	152091354	+	Splice_Site	SNP	G	G	T			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chrX:152091354G>T	ENST00000370268.4	+	11	864		c.e11+1		ZNF185_ENST00000318504.7_Intron|ZNF185_ENST00000535861.1_Splice_Site|ZNF185_ENST00000449285.2_Splice_Site|ZNF185_ENST00000539731.1_Splice_Site|ZNF185_ENST00000324823.6_Intron|ZNF185_ENST00000318529.8_Intron|ZNF185_ENST00000370270.2_Splice_Site			O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)							actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					AGGAGCTCAGGTGGGTGCCGA	0.637																																																0													26	28	28					X																	152091354		2165	4249	6414	SO:0001630	splice_region_variant	7739			AK056517	CCDS48184.1, CCDS55528.1, CCDS55529.1, CCDS55530.1, CCDS55531.1, CCDS55532.1, CCDS69832.1	Xq28	2012-08-08			ENSG00000147394	ENSG00000147394		"Zinc fingers, C2H2-type"	12976	protein-coding gene	gene with protein product		300381				9268636	Standard	NM_001178106		Approved		uc011myg.2	O15231	OTTHUMG00000024187	ENST00000370268.4:c.827+1G>T	X.37:g.152091354G>T			A4FTV3|A6NME5|B4DLE9|B7Z771|B8K2L9|B8K2M0|B8K2M1|B8K2M2|E9PFR6|F5GXF7|F5GZL4|F8W8V7|H0Y4M8|O00345|Q8N1R8|Q9NSD2	Splice_Site	SNP	ENST00000370268.4	37	CCDS48184.1	.	.	.	.	.	.	.	.	.	.	G	13.96	2.394119	0.42410	.	.	ENSG00000147394	ENST00000535861;ENST00000539731;ENST00000449285;ENST00000433245;ENST00000370268;ENST00000447088;ENST00000447792	.	.	.	3.57	3.57	0.40892	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.7633	0.40545	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF185	151842010	1.000000	0.71417	0.819000	0.32651	0.323000	0.28346	3.518000	0.53451	2.051000	0.60960	0.436000	0.28706	.		0.637	ZNF185-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000377480.1	NM_007150	Intron	T	152091354	G	T	152091354	5	4	700	1	0	0	0	0	0	0	1	0	17757	1275	44	4	888	4	ZNF185	23	152091354	Splice_Site	SNP	G	TCGA-KL-8331-01A-11D-2310-10	787543	152091354	3179206	72	38955											
AGRN	375790	broad.mit.edu	37	1	983491	983493	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	TGA	TGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr1:983491_983493delTGA	ENST00000379370.2	+	23	3901_3903	c.3851_3853delTGA	c.(3850-3855)gtgacc>gcc	p.1284_1285VT>A		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1284	Ser/Thr-rich.				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)		TCCTCTGCTGTGACCCCTCGGGC	0.695																																																0																																										SO:0001651	inframe_deletion	375790			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.3851_3853delTGA	1.37:g.983491_983493delTGA	ENSP00000368678:p.Val1284_Thr1285delinsAla		Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	In_Frame_Del	DEL	ENST00000379370.2	37	CCDS30551.1																																																																																				0.695	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576		-	983493	TGA	-	983491	7	5	701	1	0	1	0	1	0	0	0	0	397	1696	59	0	3941	0	AGRN	1	983491	In_Frame_Del	DEL	TGA	TCGA-KL-8332-01A-11D-2310-10		983491	248267130	1	38956											
TMEM201	199953	ucsc.edu	37	1	9661448	9661448	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr1:9661448A>G	ENST00000340381.6	+	5	901	c.892A>G	c.(892-894)Acg>Gcg	p.T298A	TMEM201_ENST00000340305.5_Missense_Mutation_p.T298A|TMEM201_ENST00000377376.4_Missense_Mutation_p.T298A	NM_001130924.2	NP_001124396.2	Q5SNT2	TM201_HUMAN	transmembrane protein 201	298					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)		GAGCCACCAGACGGGCGTCGT	0.697																																																0													47	52	50					1																	9661448		2203	4298	6501	SO:0001583	missense	199953				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.892A>G	1.37:g.9661448A>G	ENSP00000344503:p.Thr298Ala		B9EH90|Q5SNT3	Missense_Mutation	SNP	ENST00000340381.6	37	CCDS44055.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.936|9.936	1.216223|1.216223	0.22373|0.22373	.|.	.|.	ENSG00000188807|ENSG00000188807	ENST00000416541|ENST00000377376;ENST00000340305;ENST00000340381	.|.	.|.	.|.	4.92|4.92	2.56|2.56	0.30785|0.30785	.|.	.|0.709593	.|0.13717	.|N	.|0.367656	T|T	0.20210|0.20210	0.0486|0.0486	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	0.999997|0.999997	.|B;B	.|0.25206	.|0.12;0.041	.|B;B	.|0.27262	.|0.078;0.047	T|T	0.18650|0.18650	-1.0330|-1.0330	5|9	.|0.35671	.|T	.|0.21	-0.5121|-0.5121	6.1404|6.1404	0.20257|0.20257	0.7205:0.0:0.2795:0.0|0.7205:0.0:0.2795:0.0	.|.	.|298;298	.|E9PBR6;Q5SNT2-2	.|.;.	G|A	207|298	.|.	.|ENSP00000344772:T298A	D|T	+|+	2|1	0|0	TMEM201|TMEM201	9584035|9584035	0.020000|0.020000	0.18652|0.18652	0.722000|0.722000	0.30670|0.30670	0.762000|0.762000	0.43233|0.43233	-0.055000|-0.055000	0.11807|0.11807	0.734000|0.734000	0.32515|0.32515	0.460000|0.460000	0.39030|0.39030	GAC|ACG		0.697	TMEM201-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127672.1	NM_001010866		G	9661448	A	G	9661448	3	3	701	1	0	0	0	0	1	0	0	0	16131	275	10	3	910	3	TMEM201	1	9661448	Missense_Mutation	SNP	A	TCGA-KL-8332-01A-11D-2310-10	8677957	9661448	239589173	2	38957											
HSPG2	3339	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	22176895	22176895	+	Missense_Mutation	SNP	A	A	T			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr1:22176895A>T	ENST00000374695.3	-	56	7334	c.7255T>A	c.(7255-7257)Tct>Act	p.S2419T	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2419	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)	ACCAGGACAGAGGCCTCTAGA	0.677																																																0													28	28	28					1																	22176895		2202	4299	6501	SO:0001583	missense	3339			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.7255T>A	1.37:g.22176895A>T	ENSP00000363827:p.Ser2419Thr		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	A	14.04	2.416217	0.42918	.	.	ENSG00000142798	ENST00000374695	T	0.67171	-0.25	5.45	5.45	0.79879	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.38217	N	0.001776	T	0.74038	0.3664	L	0.49455	1.56	0.41410	D	0.987733	D;D	0.64830	0.965;0.994	P;D	0.78314	0.775;0.991	T	0.69525	-0.5122	10	0.10902	T	0.67	.	13.4578	0.61210	1.0:0.0:0.0:0.0	.	359;2419	Q59EG0;P98160	.;PGBM_HUMAN	T	2419	ENSP00000363827:S2419T	ENSP00000363827:S2419T	S	-	1	0	HSPG2	22049482	1.000000	0.71417	0.948000	0.38648	0.410000	0.31052	3.281000	0.51685	2.077000	0.62373	0.459000	0.35465	TCT		0.677	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		T	22176895	A	T	22176895	3	4	701	1	0	0	0	0	1	0	0	0	7432	304	11	5	6088	5	HSPG2	1	22176895	Missense_Mutation	SNP	A	TCGA-KL-8332-01A-11D-2310-10	12515447	22176895	227073726	3	38958											
SLC9A1	6548	bcgsc.ca	37	1	27436145	27436146	+	Frame_Shift_Ins	INS	-	-	A	rs529383211		TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr1:27436145_27436146insA	ENST00000263980.3	-	3	1511_1512	c.936_937insT	c.(934-939)tacgggfs	p.G313fs	SLC9A1_ENST00000374086.3_Frame_Shift_Ins_p.G313fs|SLC9A1_ENST00000545949.1_5'UTR	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	313					carbohydrate metabolic process (GO:0005975)|cardiac muscle cell differentiation (GO:0055007)|cell growth (GO:0016049)|cellular response to acidic pH (GO:0071468)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|hydrogen ion transmembrane transport (GO:1902600)|ion transport (GO:0006811)|negative regulation of apoptotic process (GO:0043066)|neuron death (GO:0070997)|positive regulation of action potential (GO:0045760)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial membrane permeability (GO:0035794)|protein oligomerization (GO:0051259)|regulation of intracellular pH (GO:0051453)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|regulation of the force of heart contraction (GO:0002026)|response to acidic pH (GO:0010447)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|sodium ion export (GO:0071436)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|sodium:proton antiporter activity (GO:0015385)|solute:proton antiporter activity (GO:0015299)			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	GCGATGACCCCGTAGACCACGC	0.594																																																0																																										SO:0001589	frameshift_variant	6548			M81768	CCDS295.1	1p36.1-p35	2014-06-13	2012-03-22		ENSG00000090020	ENSG00000090020		"Solute carriers"	11071	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 143"	107310	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 1 (antiporter, Na+/H+, amiloride sensitive)", "solute carrier family 9 (sodium/hydrogen exchanger), member 1"	APNH, NHE1		8283968	Standard	NM_003047		Approved	PPP1R143	uc001bnm.4	P19634	OTTHUMG00000004271	ENST00000263980.3:c.936_937insT	1.37:g.27436145_27436146insA	ENSP00000263980:p.Gly313fs		B1ALD6|D3DPL4|Q96EM2	Frame_Shift_Ins	INS	ENST00000263980.3	37	CCDS295.1																																																																																				0.594	SLC9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012336.2	NM_003047		A	27436146	-	A	27436145	7	5	701	1	0	1	1	0	0	0	0	0	14715	652	23	0	1550	0	SLC9A1	1	27436145	Frame_Shift_Ins	INS	-	TCGA-KL-8332-01A-11D-2310-10	5259250	27436145	221814476	4	38959											
SPOCD1	90853	ucsc.edu;bcgsc.ca	37	1	32280705	32280705	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr1:32280705T>C	ENST00000360482.2	-	2	359	c.230A>G	c.(229-231)gAg>gGg	p.E77G	SPOCD1_ENST00000533231.1_Missense_Mutation_p.E77G|SPOCD1_ENST00000373648.2_Missense_Mutation_p.E77G|SPOCD1_ENST00000257100.3_Intron	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	77					negative regulation of phosphatase activity (GO:0010923)|transcription, DNA-templated (GO:0006351)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		TGGCCGGACCTCAGCAGCACC	0.672																																																0													29	32	31					1																	32280705		2203	4300	6503	SO:0001583	missense	90853			AK058077	CCDS347.1, CCDS60066.1, CCDS72748.1	1p35.1	2014-06-13			ENSG00000134668	ENSG00000134668			26338	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 146"					12477932	Standard	NM_144569		Approved	FLJ25348, PPP1R146	uc001bts.1	Q6ZMY3	OTTHUMG00000003879	ENST00000360482.2:c.230A>G	1.37:g.32280705T>C	ENSP00000353670:p.Glu77Gly		Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	Missense_Mutation	SNP	ENST00000360482.2	37	CCDS347.1	.	.	.	.	.	.	.	.	.	.	T	5.069	0.198303	0.09652	.	.	ENSG00000134668	ENST00000360482;ENST00000373648;ENST00000533231	T;T;T	0.35973	1.72;1.28;1.72	3.4	-3.04	0.05412	.	.	.	.	.	T	0.17492	0.0420	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	0.21075	-1.0256	9	0.59425	D	0.04	-0.1588	8.8639	0.35274	0.0:0.3432:0.0:0.6568	.	77;77	Q6ZMY3-2;Q6ZMY3	.;SPOC1_HUMAN	G	77	ENSP00000353670:E77G;ENSP00000362752:E77G;ENSP00000435851:E77G	ENSP00000353670:E77G	E	-	2	0	SPOCD1	32053292	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.337000	0.07852	-0.725000	0.04901	-0.132000	0.14878	GAG		0.672	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000381912.1	NM_144569		C	32280705	T	C	32280705	3	2	701	1	0	0	0	0	1	0	0	0	15083	1551	54	3	3480	3	SPOCD1	1	32280705	Missense_Mutation	SNP	T	TCGA-KL-8332-01A-11D-2310-10	4844560	32280705	216969916	5	38960											
GJB3	2707	broad.mit.edu	37	1	35250386	35250386	+	Missense_Mutation	SNP	C	C	A			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr1:35250386C>A	ENST00000373366.2	+	2	638	c.23C>A	c.(22-24)gCc>gAc	p.A8D	GJB3_ENST00000373362.3_Missense_Mutation_p.A8D|RP1-34M23.5_ENST00000542839.1_RNA	NM_024009.2	NP_076872.1	O75712	CXB3_HUMAN	gap junction protein, beta 3, 31kDa	8					cell communication (GO:0007154)|in utero embryonic development (GO:0001701)|placenta development (GO:0001890)|sensory perception of sound (GO:0007605)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	connexon complex (GO:0005922)|cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)	gap junction channel activity (GO:0005243)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|prostate(3)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				ACACTCCAGGCCCTACTGAGC	0.552																																																0													88	69	76					1																	35250386		2203	4300	6503	SO:0001583	missense	2707			BC012918	CCDS384.1	1p34	2008-05-14	2007-01-16		ENSG00000188910	ENSG00000188910		"Ion channels / Gap junction proteins (connexins)"	4285	protein-coding gene	gene with protein product	"connexin 31"	603324	"gap junction protein, beta 3, 31kD (connexin 31)", "gap junction protein, beta 3, 31kDa (connexin 31)", "erythrokeratodermia variabilis"	DFNA2, EKV		9843210, 9704026	Standard	NM_024009		Approved	CX31	uc001bxy.3	O75712	OTTHUMG00000004051	ENST00000373366.2:c.23C>A	1.37:g.35250386C>A	ENSP00000362464:p.Ala8Asp		B2R790|Q2TAZ8	Missense_Mutation	SNP	ENST00000373366.2	37	CCDS384.1	.	.	.	.	.	.	.	.	.	.	c	0.018	-1.467938	0.01053	.	.	ENSG00000188910	ENST00000373366;ENST00000373362;ENST00000543647	D;D	0.99089	-5.41;-5.41	5.85	-1.61	0.08399	Connexin, N-terminal (1);	0.621249	0.16477	N	0.212733	D	0.95459	0.8525	N	0.17723	0.515	0.09310	N	1	B	0.06786	0.001	B	0.15484	0.013	D	0.85997	0.1492	10	0.12430	T	0.62	.	14.2953	0.66308	0.2538:0.1754:0.5708:0.0	.	8	O75712	CXB3_HUMAN	D	8	ENSP00000362464:A8D;ENSP00000362460:A8D	ENSP00000362460:A8D	A	+	2	0	GJB3	35022973	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.592000	0.05747	-0.458000	0.07023	-1.131000	0.01979	GCC		0.552	GJB3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011559.1	NM_024009		A	35250386	C	A	35250386	3	1	701	1	0	0	0	0	1	0	0	0	6411	739	26	4	25	4	GJB3	1	35250386	Missense_Mutation	SNP	C	TCGA-KL-8332-01A-11D-2310-10	2969681	35250386	214000235	6	38961											
DOCK7	85440	hgsc.bcm.edu;bcgsc.ca	37	1	63005305	63005305	+	Missense_Mutation	SNP	T	T	A	rs371894094		TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr1:63005305T>A	ENST00000340370.5	-	26	3135	c.3118A>T	c.(3118-3120)Aat>Tat	p.N1040Y	DOCK7_ENST00000251157.5_Missense_Mutation_p.N1071Y	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1071					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						AGGCTTGTATTGAGTCTCTCA	0.348																																																0													90	100	96					1																	63005305		2203	4300	6503	SO:0001583	missense	85440				CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.3118A>T	1.37:g.63005305T>A	ENSP00000340742:p.Asn1040Tyr		Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	CCDS30734.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.1|25.1	4.602421|4.602421	0.87157|0.87157	.|.	.|.	ENSG00000116641|ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370|ENST00000454575	T;T|.	0.29397|.	1.57;1.57|.	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83917|0.83917	0.5358|0.5358	M|M	0.90145|0.90145	3.09|3.09	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.91635|.	0.999;0.998;0.997;0.993;0.993|.	D|D	0.87095|0.87095	0.2175|0.2175	10|5	0.87932|.	D|.	0|.	.|.	15.8711|15.8711	0.79119|0.79119	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1071;1040;1040;1040;1071|.	Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3;Q96N67-6|.	.;.;.;.;.|.	Y|L	1071;1071;1040|242	ENSP00000251157:N1071Y;ENSP00000340742:N1040Y|.	ENSP00000251157:N1071Y|.	N|Q	-|-	1|2	0|0	DOCK7|DOCK7	62777893|62777893	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.772000|7.772000	0.85439|0.85439	2.334000|2.334000	0.79466|0.79466	0.528000|0.528000	0.53228|0.53228	AAT|CAA		0.348	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		A	63005305	T	A	63005305	3	1	701	1	0	0	0	0	1	0	0	0	4694	1812	63	5	3307	5	DOCK7	1	63005305	Missense_Mutation	SNP	T	TCGA-KL-8332-01A-11D-2310-10	27754919	63005305	186245316	7	38962											
FAM73A	374986	ucsc.edu	37	1	78269049	78269049	+	Silent	SNP	A	A	G			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr1:78269049A>G	ENST00000370791.3	+	4	500	c.468A>G	c.(466-468)ggA>ggG	p.G156G	FAM73A_ENST00000443751.2_Silent_p.G118G	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	156						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)		CTAATGGAGGACTTTTCAGTA	0.318																																																0													58	57	57					1																	78269049		2202	4294	6496	SO:0001819	synonymous_variant	374986				CCDS681.1, CCDS72809.1	1p31.1	2008-02-05			ENSG00000180488	ENSG00000180488			24741	protein-coding gene	gene with protein product							Standard	NM_001270384		Approved	FLJ35093	uc010ork.3	Q8NAN2	OTTHUMG00000009766	ENST00000370791.3:c.468A>G	1.37:g.78269049A>G			Q6MZG0	Silent	SNP	ENST00000370791.3	37	CCDS681.1																																																																																				0.318	FAM73A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026931.1	NM_198549		G	78269049	A	G	78269049	2	3	701	1	0	0	0	0	0	0	0	1	5619	262	10	3		3	FAM73A	1	78269049	Silent	SNP	A	TCGA-KL-8332-01A-11D-2310-10	15263744	78269049	170981572	8	38963											
PTGFRN	5738	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	1	117491967	117491967	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr1:117491967G>A	ENST00000393203.2	+	4	1133	c.986G>A	c.(985-987)cGc>cAc	p.R329H		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	329	Ig-like C2-type 3.				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)		CCTGGCTCCCGCGTGTTGGCG	0.592																																																0													111	92	99					1																	117491967		2203	4300	6503	SO:0001583	missense	5738			AB014734	CCDS890.1	1p13.1	2013-01-29	2013-01-25		ENSG00000134247	ENSG00000134247		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9601	protein-coding gene	gene with protein product		601204	"prostaglandin F2 receptor negative regulator"			8655148	Standard	NM_020440		Approved	FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315	uc001egv.1	Q9P2B2	OTTHUMG00000012028	ENST00000393203.2:c.986G>A	1.37:g.117491967G>A	ENSP00000376899:p.Arg329His		Q5VVU9|Q8N2K6	Missense_Mutation	SNP	ENST00000393203.2	37	CCDS890.1	.	.	.	.	.	.	.	.	.	.	G	9.142	1.014082	0.19277	.	.	ENSG00000134247	ENST00000393203;ENST00000544471	T	0.66460	-0.21	5.57	-9.03	0.00737	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.709830	0.14938	N	0.289670	T	0.15998	0.0385	N	0.08118	0	0.09310	N	1	B	0.14805	0.011	B	0.12156	0.007	T	0.14227	-1.0480	10	0.42905	T	0.14	-4.1024	8.1169	0.30948	0.2011:0.1105:0.5803:0.1082	.	329	Q9P2B2	FPRP_HUMAN	H	329;188	ENSP00000376899:R329H	ENSP00000376899:R329H	R	+	2	0	PTGFRN	117293490	0.000000	0.05858	0.000000	0.03702	0.655000	0.38815	0.091000	0.15046	-2.101000	0.00846	-0.291000	0.09656	CGC		0.592	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033271.1	NM_020440		A	117491967	G	A	117491967	3	1	701	1	0	0	0	0	1	0	0	0	12756	1087	38	1	1000	1	PTGFRN	1	117491967	Missense_Mutation	SNP	G	TCGA-KL-8332-01A-11D-2310-10	39222918	117491967	131758654	9	38964											
BCAN	63827	broad.mit.edu	37	1	156622489	156622489	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr1:156622489G>A	ENST00000329117.5	+	8	2083	c.1747G>A	c.(1747-1749)Gag>Aag	p.E583K	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.E583K	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	583					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)					AGGAGAGAGCGAGGAGACAGG	0.622																																																0													51	54	53					1																	156622489		2203	4300	6503	SO:0001583	missense	63827			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.1747G>A	1.37:g.156622489G>A	ENSP00000331210:p.Glu583Lys		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	ENST00000329117.5	37	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.334596	0.81801	.	.	ENSG00000132692	ENST00000329117;ENST00000361588	T;T	0.14391	2.51;3.14	4.29	4.29	0.51040	.	0.275036	0.21601	N	0.071951	T	0.09905	0.0243	N	0.24115	0.695	0.40596	D	0.981538	D;D	0.71674	0.957;0.998	B;P	0.57846	0.284;0.828	T	0.17531	-1.0366	10	0.30854	T	0.27	-13.5208	12.1032	0.53796	0.0:0.0:1.0:0.0	.	583;583	Q96GW7;Q96GW7-2	PGCB_HUMAN;.	K	583	ENSP00000331210:E583K;ENSP00000354925:E583K	ENSP00000331210:E583K	E	+	1	0	BCAN	154889113	0.986000	0.35501	0.998000	0.56505	0.793000	0.44817	3.354000	0.52254	2.228000	0.72767	0.455000	0.32223	GAG		0.622	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		A	156622489	G	A	156622489	3	1	701	1	0	0	0	0	1	0	0	0	1345	1059	37	1	1773	1	BCAN	1	156622489	Missense_Mutation	SNP	G	TCGA-KL-8332-01A-11D-2310-10	39130522	156622489	92628132	10	38965											
FAM82A1	151393	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	38224599	38224599	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr2:38224599C>T	ENST00000406384.1	+	8	1180	c.986C>T	c.(985-987)aCt>aTt	p.T329I	RMDN2_ENST00000234195.3_Missense_Mutation_p.T507I|RMDN2_ENST00000417700.2_Missense_Mutation_p.T184I|RMDN2_ENST00000354545.2_Missense_Mutation_p.T329I|RMDN2_ENST00000407257.1_Missense_Mutation_p.T507I|RMDN2-AS1_ENST00000414365.2_RNA	NM_001170792.1	NP_001164263.1	Q96LZ7	RMD2_HUMAN	regulator of microtubule dynamics 2	329						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)											ATGGCTGCTACTCTGTTTGGA	0.348																																																0													133	132	132					2																	38224599		2203	4300	6503	SO:0001583	missense	151393			AK057516	CCDS1792.1, CCDS54351.1, CCDS54352.1	2p22.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000115841	ENSG00000115841			26567	protein-coding gene	gene with protein product		611872	"family with sequence similarity 82, member A1"	FAM82A, FAM82A1		12477932	Standard	XM_005264161		Approved	FLJ32954, RMD2	uc002rqn.2	Q96LZ7	OTTHUMG00000128487	ENST00000406384.1:c.986C>T	2.37:g.38224599C>T	ENSP00000386004:p.Thr329Ile		A9UMZ7|A9UN00|Q4ZG33|Q6UXN4|Q8N657|Q8N9A2|Q8NCV6|Q8NHM0	Missense_Mutation	SNP	ENST00000406384.1	37	CCDS54351.1	.	.	.	.	.	.	.	.	.	.	C	18.82	3.704670	0.68615	.	.	ENSG00000115841	ENST00000354545;ENST00000406384;ENST00000407257;ENST00000417700;ENST00000234195;ENST00000442857	T;T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43;1.43	5.82	4.93	0.64822	Tetratricopeptide-like helical (1);	0.240802	0.42053	D	0.000768	T	0.49372	0.1553	M	0.67700	2.07	0.40775	D	0.983123	P;D;D;D	0.64830	0.876;0.994;0.987;0.994	P;P;P;P	0.61940	0.743;0.896;0.733;0.896	T	0.49283	-0.8956	10	0.56958	D	0.05	-10.3645	13.0422	0.58906	0.0:0.9204:0.0:0.0796	.	507;184;329;184	Q96LZ7-2;Q96LZ7-4;Q96LZ7;Q96LZ7-3	.;.;RMD2_HUMAN;.	I	329;329;507;184;507;184	ENSP00000346549:T329I;ENSP00000386004:T329I;ENSP00000385049:T507I;ENSP00000392977:T184I;ENSP00000234195:T507I;ENSP00000416367:T184I	ENSP00000234195:T507I	T	+	2	0	FAM82A1	38078103	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	3.722000	0.54948	2.752000	0.94435	0.655000	0.94253	ACT		0.348	RMDN2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325577.1	NM_144713		T	38224599	C	T	38224599	3	4	701	1	0	0	0	0	1	0	0	0	5632	565	20	2	2006	2	FAM82A1	2	38224599	Missense_Mutation	SNP	C	TCGA-KL-8332-01A-11D-2310-10		38224599	204974774	11	38966											
AAK1	22848	ucsc.edu	37	2	69732801	69732801	+	Silent	SNP	T	T	C			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr2:69732801T>C	ENST00000409085.4	-	16	2545	c.2169A>G	c.(2167-2169)aaA>aaG	p.K723K	AAK1_ENST00000409068.1_Intron|AAK1_ENST00000406297.3_Silent_p.K723K	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	723					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						TCTCGGGATGTTTGCCTGGAG	0.493																																																0													59	60	60					2																	69732801		1933	4128	6061	SO:0001819	synonymous_variant	22848			AB028971	CCDS1893.2	2p13.3	2012-07-10			ENSG00000115977	ENSG00000115977			19679	protein-coding gene	gene with protein product						11877461, 12471243	Standard	NM_014911		Approved	KIAA1048, DKFZp686K16132	uc002sfp.2	Q2M2I8	OTTHUMG00000129648	ENST00000409085.4:c.2169A>G	2.37:g.69732801T>C			Q4ZFZ3|Q53RX6|Q9UPV4	Silent	SNP	ENST00000409085.4	37	CCDS1893.2																																																																																				0.493	AAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251847.4	NM_014911		C	69732801	T	C	69732801	2	2	701	1	0	0	0	0	0	0	0	1	16	1722	60	3		3	AAK1	2	69732801	Silent	SNP	T	TCGA-KL-8332-01A-11D-2310-10	31508202	69732801	173466572	12	38967											
RPIA	22934	ucsc.edu	37	2	88991370	88991370	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr2:88991370C>T	ENST00000283646.4	+	1	209	c.154C>T	c.(154-156)Cgt>Tgt	p.R52C		NM_144563.2	NP_653164.2	P49247	RPIA_HUMAN	ribose 5-phosphate isomerase A	52					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)				GTCTGGGACCCGTGGCGGTGC	0.731																																																0													6	11	9					2																	88991370		1813	3966	5779	SO:0001583	missense	22934			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.154C>T	2.37:g.88991370C>T	ENSP00000283646:p.Arg52Cys		Q541P9|Q96BJ6	Missense_Mutation	SNP	ENST00000283646.4	37	CCDS2004.2	.	.	.	.	.	.	.	.	.	.	C	12.14	1.847640	0.32606	.	.	ENSG00000153574	ENST00000283646	T	0.79749	-1.3	4.66	-0.221	0.13126	.	.	.	.	.	T	0.58666	0.2138	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48305	-0.9047	9	0.62326	D	0.03	1.4726	4.0815	0.09929	0.0:0.3702:0.3553:0.2745	.	52	P49247	RPIA_HUMAN	C	52	ENSP00000283646:R52C	ENSP00000283646:R52C	R	+	1	0	RPIA	88772485	0.000000	0.05858	0.005000	0.12908	0.747000	0.42532	-0.012000	0.12699	-0.139000	0.11414	0.484000	0.47621	CGT		0.731	RPIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252683.2			T	88991370	C	T	88991370	3	4	701	1	0	0	0	0	1	0	0	0	13559	652	23	1	156	1	RPIA	2	88991370	Missense_Mutation	SNP	C	TCGA-KL-8332-01A-11D-2310-10	19258569	88991370	154208003	13	38968											
FAM168B	130074	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	2	131813240	131813240	+	Silent	SNP	C	C	T			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr2:131813240C>T	ENST00000409185.1	-	4	290	c.183G>A	c.(181-183)gtG>gtA	p.V61V	FAM168B_ENST00000389915.3_Silent_p.V61V	NM_001009993.2	NP_001009993.2	A1KXE4	F168B_HUMAN	family with sequence similarity 168, member B	61						cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|lung(2)	5						GGGAACAGGACACTTTGTAAG	0.617																																																0													43	47	46					2																	131813240		2037	4191	6228	SO:0001819	synonymous_variant	130074				CCDS42755.1	2q21.1	2008-08-08			ENSG00000152102	ENSG00000152102			27016	protein-coding gene	gene with protein product							Standard	NM_001009993		Approved	KIAA0280L	uc002tsd.3	A1KXE4	OTTHUMG00000153473	ENST00000409185.1:c.183G>A	2.37:g.131813240C>T			Q2TAZ6|Q6NZ40	Silent	SNP	ENST00000409185.1	37	CCDS42755.1																																																																																				0.617	FAM168B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331299.2	NM_001009993		T	131813240	C	T	131813240	2	4	701	1	0	0	0	0	0	0	0	1	5488	465	17	2		2	FAM168B	2	131813240	Silent	SNP	C	TCGA-KL-8332-01A-11D-2310-10	42821870	131813240	111386133	14	38969											
PLA2R1	22925	broad.mit.edu	37	2	160807853	160807853	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr2:160807853C>T	ENST00000283243.7	-	24	3744	c.3538G>A	c.(3538-3540)Gat>Aat	p.D1180N	PLA2R1_ENST00000392771.1_Missense_Mutation_p.D1180N	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	1180	C-type lectin 7. {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						ATACCTACATCTGTGGTGAAC	0.448																																																0													156	145	149					2																	160807853		2203	4300	6503	SO:0001583	missense	22925			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.3538G>A	2.37:g.160807853C>T	ENSP00000283243:p.Asp1180Asn		B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Missense_Mutation	SNP	ENST00000283243.7	37	CCDS33309.1	.	.	.	.	.	.	.	.	.	.	C	11.21	1.572165	0.28092	.	.	ENSG00000153246	ENST00000283243;ENST00000392771	T;T	0.18810	2.19;2.19	4.94	3.13	0.36017	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.332772	0.32028	N	0.006692	T	0.23649	0.0572	L	0.52206	1.635	0.48452	D	0.999656	B;B;B	0.28470	0.032;0.104;0.213	B;B;B	0.38106	0.182;0.126;0.265	T	0.03534	-1.1027	10	0.28530	T	0.3	.	11.2165	0.48830	0.0:0.8504:0.0:0.1496	.	1180;1180;1180	B7ZML4;Q13018-2;Q13018	.;.;PLA2R_HUMAN	N	1180	ENSP00000283243:D1180N;ENSP00000376524:D1180N	ENSP00000283243:D1180N	D	-	1	0	PLA2R1	160516099	0.995000	0.38212	0.785000	0.31869	0.242000	0.25591	2.858000	0.48356	0.782000	0.33613	0.557000	0.71058	GAT		0.448	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1			T	160807853	C	T	160807853	3	4	701	1	0	0	0	0	1	0	0	0	12012	913	32	2	889	2	PLA2R1	2	160807853	Missense_Mutation	SNP	C	TCGA-KL-8332-01A-11D-2310-10	28994613	160807853	82391520	15	38970											
PECR	55825	broad.mit.edu;bcgsc.ca	37	2	216946400	216946400	+	Missense_Mutation	SNP	A	A	C			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr2:216946400A>C	ENST00000265322.7	-	1	139	c.65T>G	c.(64-66)aTc>aGc	p.I22S	TMEM169_ENST00000406027.2_5'Flank|TMEM169_ENST00000454545.1_5'Flank|PECR_ENST00000497889.1_5'UTR|TMEM169_ENST00000437356.2_5'Flank|TMEM169_ENST00000295658.4_5'Flank	NM_018441.5	NP_060911.2	Q9BY49	PECR_HUMAN	peroxisomal trans-2-enoyl-CoA reductase	22				I -> F (in Ref. 2; CAB89810). {ECO:0000305}.	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)	GCCGGTGACGATGGCCACTTG	0.682																																																0													36	36	36					2																	216946400		2201	4299	6500	SO:0001583	missense	55825			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.65T>G	2.37:g.216946400A>C	ENSP00000265322:p.Ile22Ser		B2RE42|Q53TC4|Q6IAK9|Q9NRD4|Q9NY60|Q9P1A4	Missense_Mutation	SNP	ENST00000265322.7	37	CCDS33375.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.828406	0.90955	.	.	ENSG00000115425	ENST00000265322	T	0.26957	1.7	4.53	4.53	0.55603	NAD(P)-binding domain (1);	0.177601	0.49305	D	0.000144	T	0.52964	0.1767	M	0.87900	2.915	0.47698	D	0.999492	D;D	0.89917	1.0;0.999	D;D	0.78314	0.991;0.952	T	0.60084	-0.7332	10	0.87932	D	0	.	10.1616	0.42855	1.0:0.0:0.0:0.0	.	22;22	B4DJS2;Q9BY49	.;PECR_HUMAN	S	22	ENSP00000265322:I22S	ENSP00000265322:I22S	I	-	2	0	PECR	216654645	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	4.217000	0.58547	1.905000	0.55150	0.460000	0.39030	ATC		0.682	PECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337277.1	NM_018441		C	216946400	A	C	216946400	3	2	701	1	0	0	0	0	1	0	0	0	11719	333	12	5	878	5	PECR	2	216946400	Missense_Mutation	SNP	A	TCGA-KL-8332-01A-11D-2310-10	56138547	216946400	26252973	16	38971											
CAV3	859	broad.mit.edu	37	3	8775578	8775578	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr3:8775578C>T	ENST00000343849.2	+	1	93	c.16C>T	c.(16-18)Cac>Tac	p.H6Y	CAV3_ENST00000397368.2_Missense_Mutation_p.H6Y|SSUH2_ENST00000478513.1_Intron|CAV3_ENST00000472766.1_3'UTR	NM_001234.4|NM_033337.2	NP_001225.1|NP_203123.1	P56539	CAV3_HUMAN	caveolin 3	6					actin filament organization (GO:0007015)|cardiac muscle cell development (GO:0055013)|caveola assembly (GO:0070836)|cell differentiation (GO:0030154)|cell growth (GO:0016049)|cholesterol homeostasis (GO:0042632)|cytoplasmic microtubule organization (GO:0031122)|endocytosis (GO:0006897)|establishment of protein localization to plasma membrane (GO:0090002)|glucose homeostasis (GO:0042593)|heart trabecula formation (GO:0060347)|membrane raft organization (GO:0031579)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)|negative regulation of cell size (GO:0045792)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sarcomere organization (GO:0060299)|nucleus localization (GO:0051647)|plasma membrane organization (GO:0007009)|plasma membrane repair (GO:0001778)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein localization (GO:0008104)|protein localization to plasma membrane (GO:0072659)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of calcium ion import (GO:0090279)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart contraction (GO:0008016)|regulation of heart rate (GO:0002027)|regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900825)|regulation of membrane potential (GO:0042391)|regulation of nerve growth factor receptor activity (GO:0051394)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase B signaling (GO:0051896)|regulation of signal transduction by receptor internalization (GO:0038009)|regulation of skeletal muscle contraction (GO:0014819)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|T-tubule organization (GO:0033292)|triglyceride metabolic process (GO:0006641)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|dystrophin-associated glycoprotein complex (GO:0016010)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	calcium channel regulator activity (GO:0005246)|connexin binding (GO:0071253)|ion channel binding (GO:0044325)|potassium channel inhibitor activity (GO:0019870)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein complex scaffold (GO:0032947)|sodium channel regulator activity (GO:0017080)			breast(1)|kidney(2)|large_intestine(4)|lung(3)|prostate(1)	11						GGCAGAAGAGCACACAGATCT	0.547																																																0													107	92	97					3																	8775578		2203	4300	6503	SO:0001583	missense	859			AF043101	CCDS2569.1	3p25	2014-09-17			ENSG00000182533	ENSG00000182533			1529	protein-coding gene	gene with protein product	"M-caveolin"	601253				9536092, 9537420	Standard	NM_033337		Approved	VIP-21, LGMD1C, VIP21, LQT9	uc003brb.3	P56539	OTTHUMG00000090519	ENST00000343849.2:c.16C>T	3.37:g.8775578C>T	ENSP00000341940:p.His6Tyr		A8K777|Q3T1A4	Missense_Mutation	SNP	ENST00000343849.2	37	CCDS2569.1	.	.	.	.	.	.	.	.	.	.	C	0.274	-0.990711	0.02162	.	.	ENSG00000182533	ENST00000343849;ENST00000397368	D;D	0.91945	-2.94;-2.94	5.08	4.19	0.49359	.	0.287903	0.34435	N	0.003971	T	0.77136	0.4086	N	0.00926	-1.1	0.29110	N	0.88096	B	0.02656	0.0	B	0.01281	0.0	T	0.69826	-0.5040	10	0.36615	T	0.2	-20.4026	11.9305	0.52843	0.1742:0.8258:0.0:0.0	.	6	P56539	CAV3_HUMAN	Y	6	ENSP00000341940:H6Y;ENSP00000380525:H6Y	ENSP00000341940:H6Y	H	+	1	0	CAV3	8750578	0.809000	0.29036	0.988000	0.46212	0.251000	0.25915	1.119000	0.31258	1.106000	0.41623	0.511000	0.50034	CAC		0.547	CAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207008.2	NM_033337		T	8775578	C	T	8775578	3	4	701	1	0	0	0	0	1	0	0	0	2697	710	25	2	18	2	CAV3	3	8775578	Missense_Mutation	SNP	C	TCGA-KL-8332-01A-11D-2310-10		8775578	189246852	17	38972											
GOLGA4	2803	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	3	37360554	37360554	+	Splice_Site	SNP	A	A	T			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr3:37360554A>T	ENST00000361924.2	+	12	1788	c.1414A>T	c.(1414-1416)Aaa>Taa	p.K472*	GOLGA4_ENST00000356847.4_Splice_Site_p.K494*|GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000435830.2_3'UTR	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	472	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						TCATTTTCAGAAATCCTCAGA	0.348																																																0													65	75	72					3																	37360554		2203	4300	6503	SO:0001630	splice_region_variant	2803			U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"golgin 245"	602509	"golgi autoantigen, golgin subfamily a, 4"			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.1414-1A>T	3.37:g.37360554A>T			F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Nonsense_Mutation	SNP	ENST00000361924.2	37	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	A	41	8.557562	0.98861	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	.	.	.	6.02	6.02	0.97574	.	0.000000	0.38492	N	0.001674	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5446	0.84426	1.0:0.0:0.0:0.0	.	.	.	.	X	472;494;343	.	.	K	+	1	0	GOLGA4	37335558	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.396000	0.90190	2.311000	0.77944	0.533000	0.62120	AAA		0.348	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078	Nonsense_Mutation	T	37360554	A	T	37360554	5	4	701	1	0	0	0	0	0	0	1	0	6557	260	9	5	1530	5	GOLGA4	3	37360554	Splice_Site	SNP	A	TCGA-KL-8332-01A-11D-2310-10	28584976	37360554	160661876	18	38973											
UROC1	131669	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	3	126220079	126220079	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr3:126220079C>T	ENST00000290868.2	-	10	1000	c.947G>A	c.(946-948)gGc>gAc	p.G316D	UROC1_ENST00000383579.3_Missense_Mutation_p.G376D	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	316					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)		CACCACGTTGCCATGGTAACC	0.572																																																0													241	231	234					3																	126220079		2203	4300	6503	SO:0001583	missense	131669			AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	4.2.1.49		26444	protein-coding gene	gene with protein product	"urocanase 1"	613012	"urocanase domain containing 1"			19304569	Standard	NM_144639		Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.947G>A	3.37:g.126220079C>T	ENSP00000290868:p.Gly316Asp		E9PE13|Q14C64|Q68CJ7	Missense_Mutation	SNP	ENST00000290868.2	37	CCDS3038.1	.	.	.	.	.	.	.	.	.	.	c	19.08	3.757346	0.69648	.	.	ENSG00000159650	ENST00000290868;ENST00000383579	T;T	0.63417	-0.04;-0.04	4.94	4.94	0.65067	Urocanase domain (2);	0.000000	0.85682	D	0.000000	D	0.86306	0.5901	H	0.97732	4.065	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91262	0.5037	10	0.87932	D	0	-9.3404	15.6633	0.77206	0.0:1.0:0.0:0.0	.	376;316	E9PE13;Q96N76	.;HUTU_HUMAN	D	316;376	ENSP00000290868:G316D;ENSP00000373073:G376D	ENSP00000290868:G316D	G	-	2	0	UROC1	127702769	1.000000	0.71417	1.000000	0.80357	0.500000	0.33767	7.194000	0.77789	2.300000	0.77407	0.486000	0.48141	GGC		0.572	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370325.2	NM_144639		T	126220079	C	T	126220079	3	4	701	1	0	0	0	0	1	0	0	0	17033	739	26	2	1127	2	UROC1	3	126220079	Missense_Mutation	SNP	C	TCGA-KL-8332-01A-11D-2310-10	88859525	126220079	71802351	19	38974											
LARP7	51574	hgsc.bcm.edu	37	4	113565882	113565883	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr4:113565882_113565883insA	ENST00000344442.5	+	2	335_336	c.57_58insA	c.(58-60)aaafs	p.K20fs	MIR302B_ENST00000505215.1_RNA|MIR302B_ENST00000510655.1_RNA|MIR302B_ENST00000509938.1_RNA|LARP7_ENST00000509061.1_Frame_Shift_Ins_p.K27fs|LARP7_ENST00000324052.6_Frame_Shift_Ins_p.K20fs	NM_016648.3	NP_057732.2	Q4G0J3	LARP7_HUMAN	La ribonucleoprotein domain family, member 7	20					RNA processing (GO:0006396)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	17		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		GCACTGAAAAGAAAAAAGAAGT	0.356																																																0																																										SO:0001589	frameshift_variant	51574			AF068284	CCDS3701.2, CCDS58924.1	4q25	2013-02-12			ENSG00000174720	ENSG00000174720		"La ribonucleoprotein domain containing", "RNA binding motif (RRM) containing"	24912	protein-coding gene	gene with protein product	"P-TEFb-interaction protein for 7SK stability"	612026				18191186, 18249148, 18281698, 22865833, 22488152	Standard	NM_016648		Approved	HDCMA18P, PIP7S, DKFZP564K112	uc003ibb.4	Q4G0J3	OTTHUMG00000132909	ENST00000344442.5:c.63dupA	4.37:g.113565888_113565888dupA	ENSP00000344950:p.Lys20fs		B2ZHN6|Q3B7A9|Q9P1S7|Q9Y3Z8	Frame_Shift_Ins	INS	ENST00000344442.5	37	CCDS3701.2																																																																																				0.356	LARP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256417.2	NM_016648		A	113565883	-	A	113565882	7	5	701	1	0	1	1	0	0	0	0	0	8635	933	33	0	59	0	LARP7	4	113565882	Frame_Shift_Ins	INS	-	TCGA-KL-8332-01A-11D-2310-10		113565882	77588394	20	38975	312	2									
LARP7	51574	bcgsc.ca	37	4	113565883	113565884	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr4:113565883_113565884insA	ENST00000344442.5	+	2	336_337	c.58_59insA	c.(58-60)aaafs	p.K20fs	MIR302B_ENST00000505215.1_RNA|MIR302B_ENST00000510655.1_RNA|MIR302B_ENST00000509938.1_RNA|LARP7_ENST00000509061.1_Frame_Shift_Ins_p.K27fs|LARP7_ENST00000324052.6_Frame_Shift_Ins_p.K20fs	NM_016648.3	NP_057732.2	Q4G0J3	LARP7_HUMAN	La ribonucleoprotein domain family, member 7	20					RNA processing (GO:0006396)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	17		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		CACTGAAAAGAAAAAAGAAGTT	0.356																																																0																																										SO:0001589	frameshift_variant	51574			AF068284	CCDS3701.2, CCDS58924.1	4q25	2013-02-12			ENSG00000174720	ENSG00000174720		"La ribonucleoprotein domain containing", "RNA binding motif (RRM) containing"	24912	protein-coding gene	gene with protein product	"P-TEFb-interaction protein for 7SK stability"	612026				18191186, 18249148, 18281698, 22865833, 22488152	Standard	NM_016648		Approved	HDCMA18P, PIP7S, DKFZP564K112	uc003ibb.4	Q4G0J3	OTTHUMG00000132909	ENST00000344442.5:c.63dupA	4.37:g.113565888_113565888dupA	ENSP00000344950:p.Lys20fs		B2ZHN6|Q3B7A9|Q9P1S7|Q9Y3Z8	Frame_Shift_Ins	INS	ENST00000344442.5	37	CCDS3701.2																																																																																				0.356	LARP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256417.2	NM_016648		A	113565884	-	A	113565883	7	5	701	1	0	1	1	0	0	0	0	0	8635	247	9	0	60	0	LARP7	4	113565883	Frame_Shift_Ins	INS	-	TCGA-KL-8332-01A-11D-2310-10	1	113565883	77588393	21	38976	312	2									
FGA	2243	broad.mit.edu;mdanderson.org;bcgsc.ca	37	4	155506759	155506759	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr4:155506759C>T	ENST00000302053.3	-	5	1900	c.1822G>A	c.(1822-1824)Gga>Aga	p.G608R	FGA_ENST00000403106.3_Missense_Mutation_p.G608R	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	608					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)	GCTTCACTTCCGGCCTCATCT	0.453																																					NSCLC(143;340 1922 20892 22370 48145)											0													146	134	138					4																	155506759		2203	4300	6503	SO:0001583	missense	2243				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.1822G>A	4.37:g.155506759C>T	ENSP00000306361:p.Gly608Arg		A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	C	19.08	3.757512	0.69648	.	.	ENSG00000171560	ENST00000302053;ENST00000403106	T;T	0.56776	0.44;2.88	5.5	4.66	0.58398	.	5.596130	0.00166	N	0.000001	T	0.64800	0.2631	L	0.50333	1.59	0.09310	N	1	D;D	0.63880	0.993;0.987	P;P	0.52424	0.698;0.502	T	0.54536	-0.8279	10	0.42905	T	0.14	.	13.9898	0.64359	0.1516:0.8484:0.0:0.0	.	608;608	P02671-2;P02671	.;FIBA_HUMAN	R	608	ENSP00000306361:G608R;ENSP00000385981:G608R	ENSP00000306361:G608R	G	-	1	0	FGA	155726209	0.003000	0.15002	0.002000	0.10522	0.146000	0.21551	1.715000	0.37971	1.549000	0.49425	-0.152000	0.13540	GGA		0.453	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		T	155506759	C	T	155506759	3	4	701	1	0	0	0	0	1	0	0	0	5832	661	23	1	830	1	FGA	4	155506759	Missense_Mutation	SNP	C	TCGA-KL-8332-01A-11D-2310-10	41940876	155506759	35647517	22	38977											
ADAM29	11086	mdanderson.org	37	4	175899001	175899001	+	Silent	SNP	T	T	C	rs111240604	byFrequency	TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr4:175899001T>C	ENST00000359240.3	+	5	2995	c.2325T>C	c.(2323-2325)tcT>tcC	p.S775S	ADAM29_ENST00000404450.4_Silent_p.S775S|ADAM29_ENST00000445694.1_Silent_p.S775S|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000514159.1_Silent_p.S775S	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	775	9 X 9 AA approximate repeats.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TGATGCCTTCTCAGAGTCAAC	0.567																																					Ovarian(140;1727 1835 21805 25838 41440)											0													175	158	163					4																	175899001		2203	4300	6503	SO:0001819	synonymous_variant	11086			AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"ADAM metallopeptidase domain containing"	207	protein-coding gene	gene with protein product	"cancer/testis antigen 73"	604778	"a disintegrin and metalloproteinase domain 29"			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.2325T>C	4.37:g.175899001T>C			Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Silent	SNP	ENST00000359240.3	37	CCDS3823.1																																																																																				0.567	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				C	175899001	T	C	175899001	2	2	701	1	0	0	0	0	0	0	0	1	247	1538	54	3		3	ADAM29	4	175899001	Silent	SNP	T	TCGA-KL-8332-01A-11D-2310-10	20392242	175899001	15255275	23	38978											
SDHA	6389	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	5	256467	256467	+	Missense_Mutation	SNP	C	C	G			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr5:256467C>G	ENST00000264932.6	+	15	2042	c.1927C>G	c.(1927-1929)Ccc>Gcc	p.P643A	SDHA_ENST00000504309.1_Missense_Mutation_p.P562A|SDHA_ENST00000507522.1_3'UTR|SDHA_ENST00000510361.1_Missense_Mutation_p.P595A	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	643					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)	GGAATATAGACCCGTGATCGA	0.433									Familial Paragangliomas																																							0													93	105	101					5																	256467		2203	4300	6503	SO:0001583	missense	6389	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	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.1927C>G	5.37:g.256467C>G	ENSP00000264932:p.Pro643Ala		A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	ENST00000264932.6	37	CCDS3853.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	N|N|N	12.65|12.65|12.65	2.002169|2.002169|2.002169	0.35320|0.35320|0.35320	.|.|.	.|.|.	ENSG00000073578|ENSG00000073578|ENSG00000073578	ENST00000509564|ENST00000264932;ENST00000327872;ENST00000504309;ENST00000510361|ENST00000515815	D|D;D;D|.	0.84660|0.83419|.	-1.88|-1.72;-1.72;-1.72|.	4.12|4.12|4.12	4.12|4.12|4.12	0.48240|0.48240|0.48240	.|Fumarate reductase/succinate dehydrogenase flavoprotein-like, C-terminal (1);Fumarate reductase/succinate dehydrogenase flavoprotein, C-terminal (1);|.	.|0.000000|.	.|0.85682|.	.|U|.	.|0.000000|.	T|T|T	0.75133|0.75133|0.75133	0.3808|0.3808|0.3808	M|M|M	0.79693|0.79693|0.79693	2.465|2.465|2.465	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|B;D;D;B|.	.|0.69078|.	.|0.299;0.994;0.997;0.094|.	.|B;P;D;B|.	.|0.77004|.	.|0.219;0.835;0.989;0.037|.	T|T|T	0.77525|0.77525|0.77525	-0.2555|-0.2555|-0.2555	7|10|5	0.87932|0.48119|.	D|T|.	0|0.1|.	.|.|.	13.8591|13.8591|13.8591	0.63548|0.63548|0.63548	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|595;237;562;643|.	.|E9PBJ5;B3KYA5;D6RFM5;P31040|.	.|.;.;.;DHSA_HUMAN|.	E|A|S	100|643;498;562;595|125	ENSP00000421911:D100E|ENSP00000264932:P643A;ENSP00000426514:P562A;ENSP00000427703:P595A|.	ENSP00000421911:D100E|ENSP00000264932:P643A|.	D|P|T	+|+|+	3|1|2	2|0|0	SDHA|SDHA|SDHA	309467|309467|309467	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.982000|0.982000|0.982000	0.44146|0.44146|0.44146	0.264000|0.264000|0.264000	0.26372|0.26372|0.26372	6.951000|6.951000|6.951000	0.75983|0.75983|0.75983	1.861000|1.861000|1.861000	0.53984|0.53984|0.53984	0.305000|0.305000|0.305000	0.20034|0.20034|0.20034	GAC|CCC|ACC		0.433	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	NM_004168		G	256467	C	G	256467	3	3	701	1	0	0	0	0	1	0	0	0	13969	507	18	4	1985	4	SDHA	5	256467	Missense_Mutation	SNP	C	TCGA-KL-8332-01A-11D-2310-10		256467	180658793	24	38979											
SLC6A19	340024	bcgsc.ca	37	5	1208864	1208864	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr5:1208864C>T	ENST00000304460.10	+	2	262	c.206C>T	c.(205-207)gCc>gTc	p.A69V		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	69					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)			ATTGCAGGAGCCTTCATGATC	0.662																																																0													105	101	102					5																	1208864		2203	4300	6503	SO:0001583	missense	340024			AK096054	CCDS34130.1	5p15	2013-07-19			ENSG00000174358	ENSG00000174358		"Solute carriers"	27960	protein-coding gene	gene with protein product	"Hartnup disease"	608893					Standard	NM_001003841		Approved		uc003jbw.4	Q695T7	OTTHUMG00000161636	ENST00000304460.10:c.206C>T	5.37:g.1208864C>T	ENSP00000305302:p.Ala69Val		A8K446	Missense_Mutation	SNP	ENST00000304460.10	37	CCDS34130.1	.	.	.	.	.	.	.	.	.	.	C	18.21	3.573808	0.65765	.	.	ENSG00000174358	ENST00000304460	T	0.79141	-1.24	4.55	4.55	0.56014	.	0.000000	0.85682	D	0.000000	D	0.83908	0.5356	M	0.82193	2.58	0.80722	D	1	P	0.46512	0.879	P	0.47827	0.558	D	0.87742	0.2586	10	0.87932	D	0	.	17.3733	0.87384	0.0:1.0:0.0:0.0	.	69	Q695T7	S6A19_HUMAN	V	69	ENSP00000305302:A69V	ENSP00000305302:A69V	A	+	2	0	SLC6A19	1261864	1.000000	0.71417	0.919000	0.36401	0.559000	0.35586	7.565000	0.82337	2.091000	0.63221	0.485000	0.47835	GCC		0.662	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365557.1	XM_291120		T	1208864	C	T	1208864	3	4	701	1	0	0	0	0	1	0	0	0	14688	739	26	2	212	2	SLC6A19	5	1208864	Missense_Mutation	SNP	C	TCGA-KL-8332-01A-11D-2310-10	952397	1208864	179706396	25	38980											
VARS2	57176	broad.mit.edu	37	6	30889464	30889464	+	Missense_Mutation	SNP	G	G	C			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr6:30889464G>C	ENST00000321897.5	+	17	2363	c.1731G>C	c.(1729-1731)gaG>gaC	p.E577D	VARS2_ENST00000416670.2_Missense_Mutation_p.E577D|VARS2_ENST00000541562.1_Missense_Mutation_p.E607D|VARS2_ENST00000542001.1_Missense_Mutation_p.E437D|VARS2_ENST00000476162.1_3'UTR			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	577					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)			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						TGACCCTGGAGAGGGGTGAGT	0.632																																																0													20	19	20					6																	30889464		1508	2707	4215	SO:0001583	missense	57176			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.1731G>C	6.37:g.30889464G>C	ENSP00000316092:p.Glu577Asp		A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Missense_Mutation	SNP	ENST00000321897.5	37	CCDS34387.1	.	.	.	.	.	.	.	.	.	.	G	14.38	2.519454	0.44866	.	.	ENSG00000137411	ENST00000321897;ENST00000416670;ENST00000542001;ENST00000541562	T;T;T;T	0.37584	1.19;1.19;1.19;1.19	5.05	4.18	0.49190	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.234323	0.43110	D	0.000602	T	0.21347	0.0514	M	0.67700	2.07	0.29534	N	0.852599	B;B;B	0.20780	0.048;0.039;0.018	B;B;B	0.25506	0.061;0.048;0.018	T	0.21861	-1.0233	10	0.87932	D	0	-5.4286	10.9229	0.47176	0.0919:0.0:0.9081:0.0	.	575;607;577	B7ZL25;F5GXJ0;Q5ST30	.;.;SYVM_HUMAN	D	577;577;437;607	ENSP00000316092:E577D;ENSP00000394802:E577D;ENSP00000438200:E437D;ENSP00000441000:E607D	ENSP00000316092:E577D	E	+	3	2	VARS2	30997443	1.000000	0.71417	0.998000	0.56505	0.936000	0.57629	3.455000	0.52993	1.124000	0.41980	0.555000	0.69702	GAG		0.632	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076566.2	NM_020442		C	30889464	G	C	30889464	3	2	701	1	0	0	0	0	1	0	0	0	17129	933	33	4	1891	4	VARS2	6	30889464	Missense_Mutation	SNP	G	TCGA-KL-8332-01A-11D-2310-10		30889464	140225603	26	38981											
MUC21	394263	mdanderson.org	37	6	30954932	30954932	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr6:30954932C>T	ENST00000376296.3	+	2	1221	c.980C>T	c.(979-981)gCc>gTc	p.A327V	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	327	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						TCCAGTGGGGCCAGCACAGCC	0.627																																																0													140	140	140					6																	30954932		2203	4298	6501	SO:0001583	missense	394263			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.980C>T	6.37:g.30954932C>T	ENSP00000365473:p.Ala327Val		B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	ENST00000376296.3	37	CCDS34388.1	.	.	.	.	.	.	.	.	.	.	c	10.42	1.344802	0.24426	.	.	ENSG00000204544	ENST00000376296	T	0.04119	3.7	4.03	1.23	0.21249	.	.	.	.	.	T	0.00695	0.0023	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.46721	-0.9171	8	.	.	.	-0.5435	6.5251	0.22297	0.0:0.5892:0.0:0.4108	.	327	Q5SSG8	MUC21_HUMAN	V	327	ENSP00000365473:A327V	.	A	+	2	0	MUC21	31062911	0.000000	0.05858	0.000000	0.03702	0.098000	0.18820	0.017000	0.13399	0.245000	0.21373	-0.216000	0.12614	GCC		0.627	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		T	30954932	C	T	30954932	3	4	701	1	0	0	0	0	1	0	0	0	9979	739	26	2	986	2	MUC21	6	30954932	Missense_Mutation	SNP	C	TCGA-KL-8332-01A-11D-2310-10	65468	30954932	140160135	27	38982											
HLA-DRB1	3123	mdanderson.org	37	6	32551996	32551996	+	Missense_Mutation	SNP	G	G	T	rs1059584	byFrequency	TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr6:32551996G>T	ENST00000360004.5	-	2	365	c.260C>A	c.(259-261)gCt>gAt	p.A87D		NM_002124.3	NP_002115.2	Q30167	2B1A_HUMAN	major histocompatibility complex, class II, DR beta 1	87	Beta-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						CCAGTACTCAGCGTCAGGCCG	0.627										Multiple Myeloma(14;0.17)			G|||	412	0.0822684	0.1445	0.0663	5008	,	,		7448	0.0427		0.0885	False		,,,				2504	0.044															0													37	40	39					6																	32551996		2186	4282	6468	SO:0001583	missense	3123			AJ297583	CCDS47409.1	6p21.3	2013-01-11			ENSG00000196126	ENSG00000196126		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4948	protein-coding gene	gene with protein product		142857		HLA-DR1B			Standard	NM_001243965		Approved		uc011eri.2	P01911	OTTHUMG00000031196	ENST00000360004.5:c.260C>A	6.37:g.32551996G>T	ENSP00000353099:p.Ala87Asp		P01914|Q9MYF5	Missense_Mutation	SNP	ENST00000360004.5	37	CCDS47409.1	.	.	.	.	.	.	.	.	.	.	.	15.38	2.815741	0.50527	.	.	ENSG00000196126	ENST00000360004	T	0.00420	7.47	3.52	2.62	0.31277	MHC class II, alpha/beta chain, N-terminal (1);MHC class II, beta chain, N-terminal (3);MHC classes I/II-like antigen recognition protein (1);	0.288263	0.31554	N	0.007451	T	0.01092	0.0036	H	0.99357	4.53	0.09310	N	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.38067	-0.9678	10	0.87932	D	0	.	9.9904	0.41868	0.0:0.0:0.7957:0.2042	rs1059584;rs1059585;rs2308717;rs17886576;rs35220740	87	P01911	2B1F_HUMAN	D	87	ENSP00000353099:A87D	ENSP00000353099:A87D	A	-	2	0	HLA-DRB1	32659974	0.396000	0.25262	0.002000	0.10522	0.002000	0.02628	3.831000	0.55776	0.790000	0.33803	0.453000	0.30009	GCT		0.627	HLA-DRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076393.3	NM_002124		T	32551996	G	T	32551996	3	4	701	1	0	0	0	0	1	0	0	0	7210	971	34	4	560	4	HLA-DRB1	6	32551996	Missense_Mutation	SNP	G	TCGA-KL-8332-01A-11D-2310-10	1597064	32551996	138563071	28	38983											
KIAA0408	9729	bcgsc.ca	37	6	127771252	127771253	+	Frame_Shift_Ins	INS	-	-	T	rs370114599		TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr6:127771252_127771253insT	ENST00000483725.3	-	3	716_717	c.380_381insA	c.(379-381)aaafs	p.K127fs	SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	127										endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		CTACTTTTGATTTTTTTGTTGC	0.416																																																0																																										SO:0001589	frameshift_variant	9729			AB007868	CCDS34531.1	6q22.33	2012-11-29			ENSG00000189367	ENSG00000189367			21636	protein-coding gene	gene with protein product							Standard	NM_014702		Approved		uc011ebs.2	Q6ZU52	OTTHUMG00000166439	ENST00000483725.3:c.382dupA	6.37:g.127771258_127771258dupT	ENSP00000435150:p.Lys127fs		B3KRE5|E1P573|O43158|Q5TF20|Q7L2M2	Frame_Shift_Ins	INS	ENST00000483725.3	37	CCDS34531.1																																																																																				0.416	KIAA0408-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042145.3	NM_014702		T	127771253	-	T	127771252	7	5	701	1	0	1	1	0	0	0	0	0	8176	1490	52	0	1719	0	KIAA0408	6	127771252	Frame_Shift_Ins	INS	-	TCGA-KL-8332-01A-11D-2310-10	95219256	127771252	43343815	29	38984											
DLX6	1750	broad.mit.edu	37	7	96635389	96635391	+	In_Frame_Del	DEL	CAG	CAG	-	rs35478952		TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	CAG	CAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr7:96635389_96635391delCAG	ENST00000518156.2	+	1	530_532	c.100_102delCAG	c.(100-102)cagdel	p.Q44del	DLX6_ENST00000555308.1_5'Flank|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS2_ENST00000606174.1_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6_ENST00000007660.5_Intron|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000431497.2_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000430027.3_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000430404.2_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)					gcagcagcaacagcagcagcagc	0.68																																																0										71,2005		9,53,976						-0.1	1			6	237,4797		8,221,2288	no	coding	DLX6	NM_005222.3		17,274,3264	A1A1,A1R,RR		4.708,3.42,4.3319				308,6802				SO:0001651	inframe_deletion	1750				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.100_102delCAG	7.37:g.96635398_96635400delCAG	ENSP00000428480:p.Gln44del		A4D1I2|B3KSQ0|J3KR92|Q3ZAR6|Q9UPL2	In_Frame_Del	DEL	ENST00000518156.2	37	CCDS47647.2																																																																																				0.68	DLX6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334373.4	NM_005222		-	96635391	CAG	-	96635389	7	5	701	1	0	1	0	1	0	0	0	0	4577	479	17	0	102	0	DLX6	7	96635389	In_Frame_Del	DEL	CAG	TCGA-KL-8332-01A-11D-2310-10		96635389	62503274	30	38985											
MLL3	58508	mdanderson.org	37	7	151932923	151932923	+	Silent	SNP	G	G	A			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr7:151932923G>A	ENST00000262189.6	-	16	2966	c.2748C>T	c.(2746-2748)atC>atT	p.I916I	KMT2C_ENST00000355193.2_Silent_p.I916I	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	916					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)										CAACAGCTCCGATTCCACTTT	0.478																																																0													74	67	69					7																	151932923		2202	4284	6486	SO:0001819	synonymous_variant	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.2748C>T	7.37:g.151932923G>A			Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	9.270	1.045395	0.19748	.	.	ENSG00000055609	ENST00000418673	.	.	.	5.0	-5.63	0.02474	.	.	.	.	.	T	0.48003	0.1476	.	.	.	0.54753	D	0.999984	.	.	.	.	.	.	T	0.48198	-0.9056	4	.	.	.	.	7.2844	0.26330	0.4461:0.1266:0.4273:0.0	.	.	.	.	W	72	.	.	R	-	1	2	MLL3	151563856	0.145000	0.22656	0.658000	0.29665	0.991000	0.79684	-0.279000	0.08479	-1.230000	0.02561	-0.225000	0.12378	CGG		0.478	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			A	151932923	G	A	151932923	2	1	701	1	0	0	0	0	0	0	0	1	9624	1048	37	1		1	MLL3	7	151932923	Silent	SNP	G	TCGA-KL-8332-01A-11D-2310-10	55297534	151932923	7205740	31	38986											
PTPDC1	138639	ucsc.edu	37	9	96857597	96857597	+	Splice_Site	SNP	A	A	G			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr9:96857597A>G	ENST00000375360.3	+	6	794		c.e6-1		PTPDC1_ENST00000288976.3_Splice_Site	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1						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						CTTTTTTCCTAGTTTACTTCT	0.358																																																0													115	119	118					9																	96857597		2203	4300	6503	SO:0001630	splice_region_variant	138639			BC051654	CCDS6707.1, CCDS6708.1, CCDS75860.1	9q22.32	2011-06-09			ENSG00000158079	ENSG00000158079		"Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"	30184	protein-coding gene	gene with protein product	"protein tyrosine phosphatase PTP9Q22"					14702039	Standard	NM_152422		Approved	PTP9Q22, FLJ37312	uc010mrj.2	A2A3K4	OTTHUMG00000020258	ENST00000375360.3:c.455-1A>G	9.37:g.96857597A>G			Q5T3M4|Q6NXE8|Q8IWM1|Q8N1X4|Q8N9F5	Splice_Site	SNP	ENST00000375360.3	37	CCDS6707.1	.	.	.	.	.	.	.	.	.	.	.	13.20	2.166092	0.38217	.	.	ENSG00000158079	ENST00000375360;ENST00000288976	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7685	0.69657	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTPDC1	95897418	1.000000	0.71417	0.970000	0.41538	0.219000	0.24729	8.696000	0.91302	2.221000	0.72209	0.528000	0.53228	.		0.358	PTPDC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215007.1	NM_177995, NM_152422	Intron	G	96857597	A	G	96857597	5	3	701	1	0	0	0	0	0	0	1	0	12779	434	15	3	713	3	PTPDC1	9	96857597	Splice_Site	SNP	A	TCGA-KL-8332-01A-11D-2310-10		96857597	44355834	32	38987											
FAS	355	bcgsc.ca	37	10	90774008	90774008	+	Missense_Mutation	SNP	C	C	T	rs121913081		TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr10:90774008C>T	ENST00000355740.2	+	9	1029	c.809C>T	c.(808-810)aCa>aTa	p.T270I	FAS_ENST00000357339.2_Missense_Mutation_p.T249I|RP11-399O19.9_ENST00000562983.1_RNA|FAS_ENST00000355279.2_3'UTR|FAS_ENST00000352159.4_3'UTR	NM_000043.4|NM_152871.2|NM_152872.2	NP_000034.1|NP_690610.1|NP_690611.1	P49327	FAS_HUMAN	Fas cell surface death receptor	0	Beta-ketoacyl synthase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)	Cerulenin(DB01034)|Orlistat(DB01083)	GTCCAAGACACAGCAGAACAG	0.378																																																0			GRCh37	CD951864|CM991190|CM994523	FAS	D|M	rs121913081						129	120	123					10																	90774008		2203	4300	6503	SO:0001583	missense	355			M67454	CCDS7393.1, CCDS7394.1, CCDS7395.1	10q24.1	2014-09-17	2013-05-22	2005-01-07	ENSG00000026103	ENSG00000026103		"Tumor necrosis factor receptor superfamily", "CD molecules"	11920	protein-coding gene	gene with protein product	"TNF receptor superfamily member 6"	134637	"tumor necrosis factor receptor superfamily, member 6", "Fas (TNF receptor superfamily, member 6)"	FAS1, APT1, TNFRSF6		1385299, 1385309	Standard	NM_000043		Approved	CD95, APO-1	uc001kfr.3	P25445	OTTHUMG00000018701	ENST00000355740.2:c.809C>T	10.37:g.90774008C>T	ENSP00000347979:p.Thr270Ile		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	ENST00000355740.2	37	CCDS7393.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.315426	0.40996	.	.	ENSG00000026103	ENST00000540197;ENST00000355740;ENST00000357339	D;D	0.85171	-1.95;-1.95	4.65	4.65	0.58169	Death (3);DEATH-like (2);	7.859800	0.00357	N	0.000033	D	0.92835	0.7721	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.80764	0.994;0.958	T	0.81680	-0.0823	10	0.41790	T	0.15	-18.6218	13.767	0.63002	0.0:1.0:0.0:0.0	.	249;270	P25445-6;P25445	.;TNR6_HUMAN	I	297;270;249	ENSP00000347979:T270I;ENSP00000349896:T249I	ENSP00000347979:T270I	T	+	2	0	FAS	90763988	0.279000	0.24239	0.974000	0.42286	0.059000	0.15707	2.342000	0.43992	2.523000	0.85059	0.650000	0.86243	ACA		0.378	FAS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049274.3			T	90774008	C	T	90774008	3	4	701	1	0	0	0	0	1	0	0	0	5683	478	17	2	843	2	FAS	10	90774008	Missense_Mutation	SNP	C	TCGA-KL-8332-01A-11D-2310-10		90774008	44760739	33	38988											
CEND1	51286	ucsc.edu	37	11	788570	788570	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr11:788570A>G	ENST00000330106.4	-	2	182	c.7T>C	c.(7-9)Tcc>Ccc	p.S3P	CEND1_ENST00000524587.1_Intron	NM_016564.3	NP_057648.2	Q8N111	CEND_HUMAN	cell cycle exit and neuronal differentiation 1	3					adult walking behavior (GO:0007628)|cerebellar granular layer maturation (GO:0021686)|cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of cerebellar granule cell precursor proliferation (GO:0021941)|radial glia guided migration of cerebellar granule cell (GO:0021933)	integral component of membrane (GO:0016021)				prostate(1)	1		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		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)		TTCCCTCTGGACTCCATGGTG	0.667																																																0													52	67	62					11																	788570		2170	4253	6423	SO:0001583	missense	51286			AK074547	CCDS7714.1	11p15.5	2006-06-14			ENSG00000184524	ENSG00000184524			24153	protein-coding gene	gene with protein product		608213				11311134	Standard	NM_016564		Approved	FLJ90066, BM88	uc001lrh.1	Q8N111	OTTHUMG00000133308	ENST00000330106.4:c.7T>C	11.37:g.788570A>G	ENSP00000328336:p.Ser3Pro		Q9NYM6	Missense_Mutation	SNP	ENST00000330106.4	37	CCDS7714.1	.	.	.	.	.	.	.	.	.	.	A	18.71	3.682094	0.68042	.	.	ENSG00000184524	ENST00000330106	.	.	.	4.63	1.98	0.26296	.	0.093185	0.44285	D	0.000462	T	0.52092	0.1713	L	0.29908	0.895	0.41335	D	0.987262	D	0.61080	0.989	P	0.58454	0.839	T	0.54536	-0.8279	9	0.87932	D	0	-11.3684	9.6985	0.40171	0.6721:0.3279:0.0:0.0	.	3	Q8N111	CEND_HUMAN	P	3	.	ENSP00000328336:S3P	S	-	1	0	CEND1	778570	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	1.336000	0.33850	0.685000	0.31468	0.379000	0.24179	TCC		0.667	CEND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257105.1	NM_016564		G	788570	A	G	788570	3	3	701	1	0	0	0	0	1	0	0	0	3227	275	10	3	446	3	CEND1	11	788570	Missense_Mutation	SNP	A	TCGA-KL-8332-01A-11D-2310-10		788570	134217946	34	38989											
MUC2	4583	mdanderson.org	37	11	1092973	1092973	+	Missense_Mutation	SNP	C	C	T	rs55847666		TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr11:1092973C>T	ENST00000441003.2	+	30	4819	c.4792C>T	c.(4792-4794)Ccc>Tcc	p.P1598S	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000359061.5_Intron|MUC2_ENST00000333592.6_5'Flank	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				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)		p.P1598S(1)		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)	aaccccaacacccaccggcac	0.637																																																1	Substitution - Missense(1)	endometrium(1)											47	83	70					11																	1092973		1782	3238	5020	SO:0001583	missense	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.4792C>T	11.37:g.1092973C>T	ENSP00000415183:p.Pro1598Ser		Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	C	3.622	-0.077443	0.07184	.	.	ENSG00000198788	ENST00000441003	T	0.13778	2.56	1.75	-2.88	0.05682	.	.	.	.	.	T	0.04363	0.0120	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.43686	-0.9376	8	0.07482	T	0.82	.	3.4241	0.07403	0.4105:0.429:0.0:0.1605	rs55847666	1598	E7EUV1	.	S	1598	ENSP00000415183:P1598S	ENSP00000415183:P1598S	P	+	1	0	MUC2	1082973	0.007000	0.16637	0.000000	0.03702	0.120000	0.20174	0.230000	0.17852	-0.314000	0.08716	0.121000	0.15741	CCC		0.637	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		T	1092973	C	T	1092973	3	4	701	1	0	0	0	0	1	0	0	0	9977	507	18	2	4910	2	MUC2	11	1092973	Missense_Mutation	SNP	C	TCGA-KL-8332-01A-11D-2310-10	304403	1092973	133913543	35	38990											
MICALCL	84953	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	11	12316009	12316009	+	Missense_Mutation	SNP	G	G	A	rs201723344		TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr11:12316009G>A	ENST00000256186.2	+	3	1322	c.1031G>A	c.(1030-1032)cGc>cAc	p.R344H		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	344					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		CCTGCCCTCCGCACCCACAGT	0.552																																																0								G	HIS/ARG	0,3962		0,0,1981	79	88	85		1031	1.2	0	11		85	2,8300		0,2,4149	yes	missense	MICALCL	NM_032867.2	29	0,2,6130	AA,AG,GG		0.0241,0.0,0.0163	probably-damaging	344/696	12316009	2,12262	1981	4151	6132	SO:0001583	missense	84953			BK000463	CCDS41620.1	11p15.3	2005-11-01			ENSG00000133808	ENSG00000133808			25933	protein-coding gene	gene with protein product		612355				12110185	Standard	NM_032867		Approved	FLJ14966	uc001mkg.1	Q6ZW33	OTTHUMG00000165777	ENST00000256186.2:c.1031G>A	11.37:g.12316009G>A	ENSP00000256186:p.Arg344His		Q7RTP7|Q96JU6	Missense_Mutation	SNP	ENST00000256186.2	37	CCDS41620.1	.	.	.	.	.	.	.	.	.	.	G	11.00	1.511542	0.27036	0.0	2.41E-4	ENSG00000133808	ENST00000256186	T	0.12039	2.72	5.38	1.16	0.20824	.	0.325455	0.22417	N	0.060323	T	0.09202	0.0227	L	0.53249	1.67	0.09310	N	1	B	0.33841	0.428	B	0.20577	0.03	T	0.22034	-1.0228	10	0.38643	T	0.18	.	3.9085	0.09193	0.2706:0.0:0.5639:0.1656	.	344	Q6ZW33	MICLK_HUMAN	H	344	ENSP00000256186:R344H	ENSP00000256186:R344H	R	+	2	0	MICALCL	12272585	0.000000	0.05858	0.029000	0.17559	0.656000	0.38851	0.255000	0.18333	0.253000	0.21552	0.460000	0.39030	CGC		0.552	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386164.1	NM_032867		A	12316009	G	A	12316009	3	1	701	1	0	0	0	0	1	0	0	0	9574	1087	38	1	1037	1	MICALCL	11	12316009	Missense_Mutation	SNP	G	TCGA-KL-8332-01A-11D-2310-10	11223036	12316009	122690507	36	38991											
SLC1A2	6506	ucsc.edu	37	11	35338967	35338967	+	Silent	SNP	A	A	G			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr11:35338967A>G	ENST00000278379.3	-	2	396	c.114T>C	c.(112-114)tgT>tgC	p.C38C	SLC1A2_ENST00000606205.1_Silent_p.C38C|SLC1A2_ENST00000395753.1_Silent_p.C29C|SLC1A2_ENST00000395750.1_Silent_p.C29C	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	38					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)			CCAGCTTGTCACACAGGCGCA	0.602																																					NSCLC(100;1273 1575 12993 16869 47409)|Ovarian(164;45 1946 8965 30452 48454)											0													107	108	108					11																	35338967		2202	4298	6500	SO:0001819	synonymous_variant	6506			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.114T>C	11.37:g.35338967A>G			B4DQE9|Q14417|Q541G6|U3KQQ4	Silent	SNP	ENST00000278379.3	37	CCDS31459.1																																																																																				0.602	SLC1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258181.1	NM_004171		G	35338967	A	G	35338967	2	3	701	1	0	0	0	0	0	0	0	1	14438	157	6	3		3	SLC1A2	11	35338967	Silent	SNP	A	TCGA-KL-8332-01A-11D-2310-10	23022958	35338967	99667549	37	38992											
FOLH1	2346	mdanderson.org	37	11	49204732	49204732	+	Missense_Mutation	SNP	T	T	C	rs199782232		TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr11:49204732T>C	ENST00000256999.2	-	7	1149	c.889A>G	c.(889-891)Att>Gtt	p.I297V	FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000340334.7_Missense_Mutation_p.I282V|FOLH1_ENST00000356696.3_Missense_Mutation_p.I297V|FOLH1_ENST00000533034.1_Missense_Mutation_p.I282V	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	297	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)	TAGTATCCAATTGGATGAACA	0.363																																																0													78	79	78					11																	49204732		2201	4298	6499	SO:0001583	missense	2346			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.889A>G	11.37:g.49204732T>C	ENSP00000256999:p.Ile297Val		A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Missense_Mutation	SNP	ENST00000256999.2	37	CCDS7946.1	.	.	.	.	.	.	.	.	.	.	T	7.025	0.559465	0.13436	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000533034;ENST00000389724	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	2.76	1.59	0.23543	.	0.125811	0.35349	N	0.003276	T	0.50582	0.1624	M	0.78344	2.41	0.80722	D	1	B;B;B;B	0.20459	0.007;0.001;0.045;0.02	B;B;B;B	0.28139	0.046;0.018;0.086;0.035	T	0.47355	-0.9124	10	0.54805	T	0.06	.	6.1691	0.20406	0.0:0.1358:0.0:0.8642	.	282;282;297;297	Q04609-9;Q04609-7;Q04609-8;Q04609	.;.;.;FOLH1_HUMAN	V	297;297;282;282;297	ENSP00000256999:I297V;ENSP00000349129:I297V;ENSP00000344131:I282V;ENSP00000431463:I282V	ENSP00000256999:I297V	I	-	1	0	FOLH1	49161308	1.000000	0.71417	0.994000	0.49952	0.146000	0.21551	3.347000	0.52200	0.301000	0.22738	0.163000	0.16589	ATT		0.363	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476		C	49204732	T	C	49204732	3	2	701	1	0	0	0	0	1	0	0	0	5981	1493	52	3	1415	3	FOLH1	11	49204732	Missense_Mutation	SNP	T	TCGA-KL-8332-01A-11D-2310-10	13865765	49204732	85801784	38	38993											
OR5M3	219482	broad.mit.edu	37	11	56237919	56237919	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr11:56237919G>A	ENST00000312240.2	-	1	95	c.55C>T	c.(55-57)Cga>Tga	p.R19*		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	19						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)					TGCCATTCTCGACGGCTCGTT	0.403																																																0													80	70	74					11																	56237919		2201	4295	6496	SO:0001587	stop_gained	219482			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.55C>T	11.37:g.56237919G>A	ENSP00000312208:p.Arg19*		B2RNM7|Q6IEW4|Q96RC0	Nonsense_Mutation	SNP	ENST00000312240.2	37	CCDS31532.1	.	.	.	.	.	.	.	.	.	.	G	10.13	1.265447	0.23136	.	.	ENSG00000174937	ENST00000312240	.	.	.	5.0	1.8	0.24995	.	1.011540	0.07959	N	0.982069	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	1.5831	7.0203	0.24910	0.0845:0.0:0.6007:0.3148	.	.	.	.	X	19	.	ENSP00000312208:R19X	R	-	1	2	OR5M3	55994495	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	0.043000	0.13971	0.462000	0.27095	0.478000	0.44815	CGA		0.403	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391639.1	NM_001004742		A	56237919	G	A	56237919	4	1	701	1	0	0	0	0	0	1	0	0	11177	1066	37	1	870	1	OR5M3	11	56237919	Nonsense_Mutation	SNP	G	TCGA-KL-8332-01A-11D-2310-10	7033187	56237919	78768597	39	38994											
FAT3	120114	broad.mit.edu	37	11	92531376	92531376	+	Missense_Mutation	SNP	C	C	T	rs374615122		TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr11:92531376C>T	ENST00000298047.6	+	9	5214	c.5197C>T	c.(5197-5199)Cgc>Tgc	p.R1733C	FAT3_ENST00000409404.2_Missense_Mutation_p.R1733C|FAT3_ENST00000525166.1_Missense_Mutation_p.R1583C			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1733	Cadherin 15. {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)				GGATTATGAGCGCACATCCTC	0.403										TCGA Ovarian(4;0.039)			C|||	1	0.000199681	0.0	0.0	5008	,	,		21623	0.0		0.0	False		,,,				2504	0.001															0								C	CYS/ARG	0,3938		0,0,1969	91	88	89		5197	5.9	0.9	11		89	1,8341		0,1,4170	no	missense	FAT3	NM_001008781.2	180	0,1,6139	TT,TC,CC		0.012,0.0,0.0081	possibly-damaging	1733/4558	92531376	1,12279	1969	4171	6140	SO:0001583	missense	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.5197C>T	11.37:g.92531376C>T	ENSP00000298047:p.Arg1733Cys		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	C	19.26	3.792567	0.70452	0.0	1.2E-4	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.52983	0.64;0.64;0.64	5.93	5.93	0.95920	.	.	.	.	.	T	0.55970	0.1954	M	0.81112	2.525	0.80722	D	1	D	0.55385	0.971	P	0.45138	0.471	T	0.62798	-0.6778	9	0.56958	D	0.05	.	15.0942	0.72220	0.1416:0.8584:0.0:0.0	.	1733	Q8TDW7-3	.	C	1733;1733;1583	ENSP00000298047:R1733C;ENSP00000387040:R1733C;ENSP00000432586:R1583C	ENSP00000298047:R1733C	R	+	1	0	FAT3	92171024	0.805000	0.28982	0.912000	0.35992	0.897000	0.52465	1.595000	0.36708	2.818000	0.97014	0.591000	0.81541	CGC		0.403	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		T	92531376	C	T	92531376	3	4	701	1	0	0	0	0	1	0	0	0	5693	768	27	1	5231	1	FAT3	11	92531376	Missense_Mutation	SNP	C	TCGA-KL-8332-01A-11D-2310-10	36293457	92531376	42475140	40	38995											
LPAR5	57121	broad.mit.edu	37	12	6729661	6729663	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	TGT	TGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr12:6729661_6729663delTGT	ENST00000329858.4	-	2	1508_1510	c.752_754delACA	c.(751-756)aacagc>agc	p.N251del	LPAR5_ENST00000431922.1_In_Frame_Del_p.N251del|LPAR5_ENST00000540335.1_5'UTR	NM_020400.5	NP_065133.1	Q9H1C0	LPAR5_HUMAN	lysophosphatidic acid receptor 5	251						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7						GCCAGCGTGCTGTTGTAGGGCAC	0.7																																					NSCLC(74;891 2312 37538)											0																																										SO:0001651	inframe_deletion	57121			AJ272207	CCDS8553.1	12p13.31	2012-08-08	2008-04-11	2008-04-11		ENSG00000184574		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	13307	protein-coding gene	gene with protein product		606926	"G protein-coupled receptor 92"	GPR93, GPR92		11062477, 11574155, 16774927, 16651401	Standard	NM_020400		Approved	KPG_010, LPA5	uc009zer.2	Q9H1C0		ENST00000329858.4:c.752_754delACA	12.37:g.6729664_6729666delTGT	ENSP00000327875:p.Asn251del			In_Frame_Del	DEL	ENST00000329858.4	37	CCDS8553.1																																																																																				0.7	LPAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400699.1	NM_020400		-	6729663	TGT	-	6729661	7	5	701	1	0	1	0	1	0	0	0	0	8910	1580	55	0	368	0	LPAR5	12	6729661	In_Frame_Del	DEL	TGT	TCGA-KL-8332-01A-11D-2310-10		6729661	127122234	41	38996											
HDAC7	51564	broad.mit.edu;hgsc.bcm.edu	37	12	48189416	48189416	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr12:48189416delG	ENST00000427332.2	-	10	1080	c.924delC	c.(922-924)cccfs	p.P308fs	HDAC7_ENST00000552960.1_Frame_Shift_Del_p.P330fs|HDAC7_ENST00000354334.3_Frame_Shift_Del_p.P310fs|HDAC7_ENST00000380610.4_Frame_Shift_Del_p.P364fs|HDAC7_ENST00000080059.7_Frame_Shift_Del_p.P347fs			Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	308	Transcription repression 2. {ECO:0000250}.				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)		GGAGGAGAATGGGCTGCAGGC	0.677																																																0													15	17	17					12																	48189416		2166	4269	6435	SO:0001589	frameshift_variant	51564			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.924delC	12.37:g.48189416delG	ENSP00000404394:p.Pro308fs		B3KY08|B4DWI0|B4E0Q5|Q6P1W9|Q6W9G7|Q7Z4K2|Q7Z5I1|Q96K01|Q9BR73|Q9H7L0|Q9NW41|Q9NWA9|Q9NYK9|Q9UFU7	Frame_Shift_Del	DEL	ENST00000427332.2	37																																																																																					0.677	HDAC7-013	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000328804.2			-	48189416	G	-	48189416	7	5	701	1	0	1	0	1	0	0	0	0	7014	1335	47	0	2002	0	HDAC7	12	48189416	Frame_Shift_Del	DEL	G	TCGA-KL-8332-01A-11D-2310-10	41459755	48189416	85662479	42	38997	313	2									
HDAC7	51564	bcgsc.ca	37	12	48189417	48189417	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr12:48189417delG	ENST00000427332.2	-	10	1079	c.923delC	c.(922-924)cccfs	p.P308fs	HDAC7_ENST00000552960.1_Frame_Shift_Del_p.P330fs|HDAC7_ENST00000354334.3_Frame_Shift_Del_p.P310fs|HDAC7_ENST00000380610.4_Frame_Shift_Del_p.P364fs|HDAC7_ENST00000080059.7_Frame_Shift_Del_p.P347fs			Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	308	Transcription repression 2. {ECO:0000250}.				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)		GAGGAGAATGGGCTGCAGGCG	0.677																																																0													15	17	17					12																	48189417		2166	4271	6437	SO:0001589	frameshift_variant	51564			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.923delC	12.37:g.48189417delG	ENSP00000404394:p.Pro308fs		B3KY08|B4DWI0|B4E0Q5|Q6P1W9|Q6W9G7|Q7Z4K2|Q7Z5I1|Q96K01|Q9BR73|Q9H7L0|Q9NW41|Q9NWA9|Q9NYK9|Q9UFU7	Frame_Shift_Del	DEL	ENST00000427332.2	37																																																																																					0.677	HDAC7-013	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000328804.2			-	48189417	G	-	48189417	7	5	701	1	0	1	0	1	0	0	0	0	7014	1232	43	0	2003	0	HDAC7	12	48189417	Frame_Shift_Del	DEL	G	TCGA-KL-8332-01A-11D-2310-10	1	48189417	85662478	43	38998	313	2									
TENC1	23371	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	12	53449591	53449591	+	Missense_Mutation	SNP	C	C	G			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr12:53449591C>G	ENST00000314250.6	+	10	1013	c.723C>G	c.(721-723)atC>atG	p.I241M	TENC1_ENST00000451358.1_Missense_Mutation_p.I241M|RP11-983P16.4_ENST00000551890.1_RNA|TENC1_ENST00000552570.1_Missense_Mutation_p.I241M|TENC1_ENST00000314276.3_Missense_Mutation_p.I251M|TENC1_ENST00000549700.1_Missense_Mutation_p.I241M|RP11-983P16.4_ENST00000550601.1_RNA|TENC1_ENST00000379902.3_Missense_Mutation_p.I117M|RP11-983P16.4_ENST00000546793.1_RNA|TENC1_ENST00000546602.1_Missense_Mutation_p.I241M	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	241	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				cellular homeostasis (GO:0019725)|collagen metabolic process (GO:0032963)|intracellular signal transduction (GO:0035556)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|response to muscle activity (GO:0014850)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						TTGGGGTCATCGTTTCTGCCT	0.597																																																0													206	194	198					12																	53449591		2203	4300	6503	SO:0001583	missense	23371			AF518729	CCDS8842.1, CCDS8843.1, CCDS8844.1	12q13.13	2013-02-14	2004-03-05			ENSG00000111077		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	19737	protein-coding gene	gene with protein product	"tensin 2"	607717	"tensin like C1 domain-containing phosphatase"				Standard	NM_015319		Approved	KIAA1075, C1-TEN, TNS2	uc001sbp.3	Q63HR2	OTTHUMG00000169730	ENST00000314250.6:c.723C>G	12.37:g.53449591C>G	ENSP00000319684:p.Ile241Met		A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7	Missense_Mutation	SNP	ENST00000314250.6	37	CCDS8843.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.418345	0.62622	.	.	ENSG00000111077	ENST00000379902;ENST00000314276;ENST00000314250;ENST00000451358;ENST00000443113;ENST00000546602;ENST00000552570;ENST00000549700	D;D;D;D;D;D;D	0.98666	-5.06;-5.06;-5.06;-5.06;-5.06;-5.06;-5.06	5.2	2.34	0.29019	Phosphatase tensin type (1);	0.062030	0.64402	D	0.000006	D	0.96935	0.8999	N	0.05259	-0.085	0.43683	D	0.996128	D;D;D;D	0.89917	1.0;0.991;1.0;0.997	D;D;D;D	0.75484	0.968;0.957;0.986;0.98	D	0.95934	0.8941	10	0.87932	D	0	-3.0417	9.7567	0.40508	0.0:0.7503:0.0:0.2497	.	241;241;251;248	Q63HR2;F8W661;Q63HR2-4;Q6ZMJ1	TENC1_HUMAN;.;.;.	M	117;251;241;241;241;241;241;241	ENSP00000369232:I117M;ENSP00000319756:I251M;ENSP00000319684:I241M;ENSP00000393362:I241M;ENSP00000449363:I241M;ENSP00000447021:I241M;ENSP00000449361:I241M	ENSP00000319684:I241M	I	+	3	3	TENC1	51735858	0.939000	0.31865	1.000000	0.80357	0.936000	0.57629	0.049000	0.14099	0.710000	0.31997	-0.258000	0.10820	ATC		0.597	TENC1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405779.1	NM_170754		G	53449591	C	G	53449591	3	3	701	1	0	0	0	0	1	0	0	0	15763	874	31	4	870	4	TENC1	12	53449591	Missense_Mutation	SNP	C	TCGA-KL-8332-01A-11D-2310-10	5260174	53449591	80402304	44	38999											
TUBA3C	7278	broad.mit.edu	37	13	19751676	19751676	+	Silent	SNP	G	G	A			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr13:19751676G>A	ENST00000400113.3	-	4	551	c.447C>T	c.(445-447)ttC>ttT	p.F149F		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	149					'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)			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)		GCAGAGATGCGAACCCAGAGC	0.567																																																0													71	73	72					13																	19751676		2203	4300	6503	SO:0001819	synonymous_variant	7278			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.447C>T	13.37:g.19751676G>A			A6NJQ0|Q5W099|Q6PEY3|Q96F18	Silent	SNP	ENST00000400113.3	37	CCDS9284.1																																																																																				0.567	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		A	19751676	G	A	19751676	2	1	701	1	0	0	0	0	0	0	0	1	16751	1049	37	1		1	TUBA3C	13	19751676	Silent	SNP	G	TCGA-KL-8332-01A-11D-2310-10		19751676	95418202	45	39000											
EBPL	84650	broad.mit.edu	37	13	50235138	50235138	+	Missense_Mutation	SNP	T	T	G			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr13:50235138T>G	ENST00000242827.6	-	4	637	c.587A>C	c.(586-588)cAg>cCg	p.Q196P	EBPL_ENST00000378272.5_3'UTR|EBPL_ENST00000378270.5_3'UTR|EBPL_ENST00000495963.2_5'UTR|EBPL_ENST00000378284.2_3'UTR	NM_032565.3	NP_115954.1	Q9BY08	EBPL_HUMAN	emopamil binding protein-like	196					sterol metabolic process (GO:0016125)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cholestenol delta-isomerase activity (GO:0047750)	p.Q196P(2)		endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.06e-09)		GGTTTCTTTCTGATGCATTTT	0.383																																					NSCLC(39;857 1083 36109 42364 51411)											2	Substitution - Missense(2)	endometrium(2)											73	73	73					13																	50235138		2203	4300	6503	SO:0001583	missense	84650			AF243433	CCDS9420.1, CCDS61334.1	13q12-q13	2008-02-05			ENSG00000123179	ENSG00000123179			18061	protein-coding gene	gene with protein product							Standard	NM_032565		Approved	EBRP	uc001vdg.3	Q9BY08	OTTHUMG00000016920	ENST00000242827.6:c.587A>C	13.37:g.50235138T>G	ENSP00000242827:p.Gln196Pro		A6NJ59|Q569H7|Q5JVN2|Q5JVN3|Q5JVN4|Q5JVN5|Q5JVN6	Missense_Mutation	SNP	ENST00000242827.6	37	CCDS9420.1	.	.	.	.	.	.	.	.	.	.	T	15.06	2.722268	0.48728	.	.	ENSG00000123179	ENST00000242827	D	0.97994	-4.65	5.61	-2.45	0.06481	.	1.466260	0.03646	N	0.240220	D	0.94876	0.8344	L	0.47716	1.5	0.09310	N	1	B	0.09022	0.002	B	0.12837	0.008	D	0.86530	0.1821	10	0.30078	T	0.28	-0.1548	6.1064	0.20075	0.3657:0.0:0.2518:0.3825	.	196	Q9BY08	EBPL_HUMAN	P	196	ENSP00000242827:Q196P	ENSP00000242827:Q196P	Q	-	2	0	EBPL	49133139	0.002000	0.14202	0.003000	0.11579	0.996000	0.88848	-0.059000	0.11731	-0.151000	0.11176	0.528000	0.53228	CAG		0.383	EBPL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044932.2	NM_032565		G	50235138	T	G	50235138	3	3	701	1	0	0	0	0	1	0	0	0	4889	1580	55	5	37	5	EBPL	13	50235138	Missense_Mutation	SNP	T	TCGA-KL-8332-01A-11D-2310-10	30483462	50235138	64934740	46	39001											
OR11H12	440153	mdanderson.org	37	14	19378135	19378135	+	Missense_Mutation	SNP	T	T	A	rs202226673		TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr14:19378135T>A	ENST00000550708.1	+	1	614	c.542T>A	c.(541-543)aTg>aAg	p.M181K		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	181						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)		ATCTCTCAGATGCCCTTCTGT	0.478																																																0																																										SO:0001583	missense	440153				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.542T>A	14.37:g.19378135T>A	ENSP00000449002:p.Met181Lys			Missense_Mutation	SNP	ENST00000550708.1	37	CCDS32017.1	.	.	.	.	.	.	.	.	.	.	t	8.805	0.933852	0.18206	.	.	ENSG00000257115	ENST00000550708	T	0.00115	8.71	0.585	0.585	0.17428	GPCR, rhodopsin-like superfamily (1);	0.284112	0.24580	N	0.037314	T	0.00144	0.0004	L	0.50333	1.59	0.25517	N	0.987402	P	0.40282	0.711	B	0.41646	0.362	T	0.36432	-0.9748	9	0.72032	D	0.01	.	5.5303	0.16980	0.0:1.0E-4:0.0:0.9999	.	181	B2RN74	O11HC_HUMAN	K	181	ENSP00000449002:M181K	ENSP00000449002:M181K	M	+	2	0	CR383656.1	18448135	0.130000	0.22417	0.951000	0.38953	0.105000	0.19272	3.659000	0.54489	0.518000	0.28383	0.055000	0.15244	ATG		0.478	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408402.1	NM_001013354		A	19378135	T	A	19378135	3	1	701	1	0	0	0	0	1	0	0	0	10929	1464	51	5	544	5	OR11H12	14	19378135	Missense_Mutation	SNP	T	TCGA-KL-8332-01A-11D-2310-10		19378135	87971405	47	39002											
DHRS4L2	317749	mdanderson.org	37	14	24464310	24464310	+	Missense_Mutation	SNP	C	C	A	rs61999853	byFrequency	TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr14:24464310C>A	ENST00000335125.6	+	3	502	c.376C>A	c.(376-378)Cta>Ata	p.L126I	DHRS4L2_ENST00000382755.4_Missense_Mutation_p.L124I|DHRS4L2_ENST00000397071.1_Missense_Mutation_p.L126I|DHRS4L2_ENST00000543805.1_Intron|DHRS4L2_ENST00000537912.1_Intron|DHRS4L2_ENST00000534993.1_Missense_Mutation_p.L25I|DHRS4L2_ENST00000545240.1_Missense_Mutation_p.L126I|DHRS4L2_ENST00000558753.1_Intron	NM_198083.3	NP_932349.2	Q6PKH6	DR4L2_HUMAN	dehydrogenase/reductase (SDR family) member 4 like 2	124						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	10				GBM - Glioblastoma multiforme(265;0.00962)		CTTTGGAAGCCTAATGGATGT	0.532																																																0													424	384	397					14																	24464310		2203	4300	6503	SO:0001583	missense	317749				CCDS9606.2, CCDS73621.1	14q11.2	2011-09-14			ENSG00000187630	ENSG00000187630	1.1.-.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	19731	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 25C, member 3"	615196					Standard	NM_001193635		Approved	SDR25C3	uc001wlf.3	Q6PKH6	OTTHUMG00000028778	ENST00000335125.6:c.376C>A	14.37:g.24464310C>A	ENSP00000334801:p.Leu126Ile		Q3YLD4	Missense_Mutation	SNP	ENST00000335125.6	37	CCDS9606.2	51	0.023351648351648352	13	0.026422764227642278	10	0.027624309392265192	8	0.013986013986013986	20	0.026385224274406333	-	0.017	-1.492049	0.01009	.	.	ENSG00000187630	ENST00000534993;ENST00000397071;ENST00000335125;ENST00000545240;ENST00000382755	D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38	4.64	0.0778	0.14409	NAD(P)-binding domain (1);	0.297403	0.28895	N	0.013795	T	0.55114	0.1900	N	0.25380	0.74	0.09310	N	1	B	0.06786	0.001	B	0.17979	0.02	T	0.51576	-0.8688	10	0.07325	T	0.83	.	7.8688	0.29554	0.5146:0.4044:0.0:0.081	rs61999853	124	Q6PKH6	DR4L2_HUMAN	I	25;126;126;126;124	ENSP00000380261:L126I;ENSP00000334801:L126I;ENSP00000437883:L126I;ENSP00000372203:L124I	ENSP00000334801:L126I	L	+	1	2	DHRS4L2	23534150	0.459000	0.25768	0.013000	0.15412	0.726000	0.41606	0.387000	0.20718	-0.358000	0.08162	-0.522000	0.04353	CTA		0.532	DHRS4L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000071858.4			A	24464310	C	A	24464310	3	1	701	1	0	0	0	0	1	0	0	0	4496	680	24	4	386	4	DHRS4L2	14	24464310	Missense_Mutation	SNP	C	TCGA-KL-8332-01A-11D-2310-10	5086175	24464310	82885230	48	39003											
DCAF4	26094	ucsc.edu	37	14	73425508	73425508	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr14:73425508A>G	ENST00000358377.2	+	14	1703	c.1483A>G	c.(1483-1485)Agc>Ggc	p.S495G	DCAF4_ENST00000353777.3_Missense_Mutation_p.S325G|DCAF4_ENST00000555042.1_Missense_Mutation_p.S489G|DCAF4_ENST00000394234.2_Missense_Mutation_p.S395G|DCAF4_ENST00000509153.1_Missense_Mutation_p.S435G	NM_001163509.1|NM_015604.3	NP_001156981.1|NP_056419.2	Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4	495					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						TTACTCCTACAGCTAATTCTG	0.562																																																0													39	46	43					14																	73425508		2201	4296	6497	SO:0001583	missense	26094			BC018979	CCDS9809.1, CCDS9810.1, CCDS41968.1, CCDS41968.2, CCDS55926.1	14q24.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000119599		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	20229	protein-coding gene	gene with protein product			"WD repeat domain 21", "WD repeat domain 21A"	WDR21, WDR21A			Standard	NM_015604		Approved	DKFZp434K114	uc010ttr.2	Q8WV16		ENST00000358377.2:c.1483A>G	14.37:g.73425508A>G	ENSP00000351147:p.Ser495Gly		B4DUT6|G3V522|Q86U31|Q8IV10|Q96K22|Q9Y4P5	Missense_Mutation	SNP	ENST00000358377.2	37	CCDS9809.1	.	.	.	.	.	.	.	.	.	.	A	11.80	1.747798	0.30955	.	.	ENSG00000119599	ENST00000358377;ENST00000353777;ENST00000394234;ENST00000509153;ENST00000555042	T;T;T;T;T	0.68479	0.39;-0.33;-0.01;0.41;-0.01	4.92	3.73	0.42828	.	0.243282	0.46758	N	0.000269	T	0.51176	0.1659	N	0.22421	0.69	0.80722	D	1	B;B;B;P;B	0.49559	0.245;0.245;0.239;0.925;0.245	B;B;B;B;B	0.42062	0.118;0.08;0.167;0.374;0.08	T	0.54016	-0.8356	10	0.66056	D	0.02	.	9.8467	0.41032	0.914:0.0:0.086:0.0	.	435;474;489;325;495	B4DUT6;B4DN30;G3V522;Q86SY2;Q8WV16	.;.;.;.;DCAF4_HUMAN	G	495;325;395;435;489	ENSP00000351147:S495G;ENSP00000345176:S325G;ENSP00000377781:S395G;ENSP00000426178:S435G;ENSP00000452131:S489G	ENSP00000345176:S325G	S	+	1	0	DCAF4	72495261	1.000000	0.71417	0.566000	0.28421	0.027000	0.11550	3.391000	0.52530	0.857000	0.35407	-0.366000	0.07423	AGC		0.562	DCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361058.1	NM_015604		G	73425508	A	G	73425508	3	3	701	1	0	0	0	0	1	0	0	0	4272	188	7	3	1536	3	DCAF4	14	73425508	Missense_Mutation	SNP	A	TCGA-KL-8332-01A-11D-2310-10	48961198	73425508	33924032	49	39004											
RBBP6	5930	broad.mit.edu;hgsc.bcm.edu	37	16	24582960	24582960	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr16:24582960delG	ENST00000319715.4	+	18	5005	c.4573delG	c.(4573-4575)ggafs	p.G1525fs	RBBP6_ENST00000348022.2_Frame_Shift_Del_p.G1491fs|RBBP6_ENST00000381039.3_Frame_Shift_Del_p.G685fs	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1525	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)		GCCTAAAAAAGGAACAGGAGA	0.378																																																0													38	38	38					16																	24582960		2197	4297	6494	SO:0001589	frameshift_variant	5930				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.4573delG	16.37:g.24582960delG	ENSP00000317872:p.Gly1525fs		Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Frame_Shift_Del	DEL	ENST00000319715.4	37	CCDS10621.1																																																																																				0.378	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		-	24582960	G	-	24582960	7	5	701	1	0	1	0	1	0	0	0	0	13109	1001	35	0	4697	0	RBBP6	16	24582960	Frame_Shift_Del	DEL	G	TCGA-KL-8332-01A-11D-2310-10		24582960	65771793	50	39005	314	2									
RBBP6	5930	bcgsc.ca	37	16	24582961	24582961	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr16:24582961delG	ENST00000319715.4	+	18	5006	c.4574delG	c.(4573-4575)ggafs	p.G1525fs	RBBP6_ENST00000348022.2_Frame_Shift_Del_p.G1491fs|RBBP6_ENST00000381039.3_Frame_Shift_Del_p.G685fs	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1525	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)		CCTAAAAAAGGAACAGGAGAT	0.373																																																0													39	38	38					16																	24582961		2197	4297	6494	SO:0001589	frameshift_variant	5930				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.4574delG	16.37:g.24582961delG	ENSP00000317872:p.Gly1525fs		Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Frame_Shift_Del	DEL	ENST00000319715.4	37	CCDS10621.1																																																																																				0.373	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		-	24582961	G	-	24582961	7	5	701	1	0	1	0	1	0	0	0	0	13109	1174	41	0	4698	0	RBBP6	16	24582961	Frame_Shift_Del	DEL	G	TCGA-KL-8332-01A-11D-2310-10	1	24582961	65771792	51	39006	314	2									
ADCY7	113	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	16	50348998	50348998	+	Silent	SNP	T	T	A			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr16:50348998T>A	ENST00000394697.2	+	25	3385	c.3045T>A	c.(3043-3045)acT>acA	p.T1015T	ADCY7_ENST00000254235.3_Silent_p.T1015T			P51828	ADCY7_HUMAN	adenylate cyclase 7	1015	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 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)		GGGGAAACACTGTCAATGTGG	0.483																																																0													115	117	116					16																	50348998		2198	4300	6498	SO:0001819	synonymous_variant	113			D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"Adenylate cyclases"	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.3045T>A	16.37:g.50348998T>A			A0AVA6	Silent	SNP	ENST00000394697.2	37	CCDS10741.1																																																																																				0.483	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256877.3			A	50348998	T	A	50348998	2	1	701	1	0	0	0	0	0	0	0	1	299	1567	55	5		5	ADCY7	16	50348998	Silent	SNP	T	TCGA-KL-8332-01A-11D-2310-10	25766037	50348998	40005755	52	39007											
TSR1	55720	broad.mit.edu	37	17	2228035	2228035	+	Silent	SNP	A	A	G			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr17:2228035A>G	ENST00000301364.5	-	13	3188	c.2109T>C	c.(2107-2109)ccT>ccC	p.P703P	SRR_ENST00000344595.5_3'UTR	NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)	703					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						AAATTTTGAAAGGATGACCAC	0.418																																																0													119	119	119					17																	2228035		2203	4300	6503	SO:0001819	synonymous_variant	55720			AK026565	CCDS32525.1	17p13.3	2006-04-20	2006-04-20			ENSG00000167721			25542	protein-coding gene	gene with protein product		611214	"TSR1, 20S rRNA accumulation, homolog (yeast)"			10718198	Standard	NM_018128		Approved	FLJ10534	uc002fuj.3	Q2NL82		ENST00000301364.5:c.2109T>C	17.37:g.2228035A>G			Q8WUY5|Q9NVT0|Q9P2E6	Silent	SNP	ENST00000301364.5	37	CCDS32525.1																																																																																				0.418	TSR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438180.2	NM_018128		G	2228035	A	G	2228035	2	3	701	1	0	0	0	0	0	0	0	1	16669	59	3	3		3	TSR1	17	2228035	Silent	SNP	A	TCGA-KL-8332-01A-11D-2310-10		2228035	78967175	53	39008											
FAM20A	54757	ucsc.edu	37	17	66538262	66538262	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr17:66538262T>C	ENST00000592554.1	-	7	1695	c.973A>G	c.(973-975)Acg>Gcg	p.T325A	PRKAR1A_ENST00000588188.2_Intron|AC079210.1_ENST00000600820.1_5'Flank|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	325					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)					GCATACTCCGTCTTGCACATG	0.602																																																0													111	85	94					17																	66538262		2203	4300	6503	SO:0001583	missense	54757			AK056789	CCDS11679.1	17q24.2	2014-02-07			ENSG00000108950	ENSG00000108950			23015	protein-coding gene	gene with protein product		611062					Standard	NM_017565		Approved	DKFZp434F2322	uc002jho.3	Q96MK3	OTTHUMG00000180152	ENST00000592554.1:c.973A>G	17.37:g.66538262T>C	ENSP00000468308:p.Thr325Ala		B2RN47|B2RN49|Q9UF95	Missense_Mutation	SNP	ENST00000592554.1	37	CCDS11679.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.469067	0.84533	.	.	ENSG00000108950	ENST00000226094	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	D	0.83110	0.5183	M	0.87758	2.905	0.80722	D	1	D	0.63046	0.992	D	0.63192	0.912	D	0.85708	0.1317	9	0.62326	D	0.03	-33.4943	16.5885	0.84745	0.0:0.0:0.0:1.0	.	325	Q96MK3	FA20A_HUMAN	A	325	.	ENSP00000226094:T325A	T	-	1	0	FAM20A	64049857	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.850000	0.69473	2.317000	0.78254	0.460000	0.39030	ACG		0.602	FAM20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450029.2	NM_017565		C	66538262	T	C	66538262	3	2	701	1	0	0	0	0	1	0	0	0	5539	1667	58	3	672	3	FAM20A	17	66538262	Missense_Mutation	SNP	T	TCGA-KL-8332-01A-11D-2310-10	64310227	66538262	14656948	54	39009											
TMEM104	54868	ucsc.edu	37	17	72787131	72787131	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr17:72787131A>G	ENST00000335464.5	+	6	545	c.383A>G	c.(382-384)gAc>gGc	p.D128G	TMEM104_ENST00000582330.1_Missense_Mutation_p.D128G|TMEM104_ENST00000582773.1_Missense_Mutation_p.D128G|TMEM104_ENST00000417024.2_Missense_Mutation_p.D141G	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	128						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)					GAAATCACAGACCGGGTGGAA	0.527																																																0													110	81	90					17																	72787131		2203	4300	6503	SO:0001583	missense	54868			AK074029	CCDS32723.1	17q25.1	2005-12-19				ENSG00000109066			25984	protein-coding gene	gene with protein product							Standard	NM_017728		Approved	FLJ20255, FLJ00021	uc002jls.4	Q8NE00		ENST00000335464.5:c.383A>G	17.37:g.72787131A>G	ENSP00000334849:p.Asp128Gly		Q8TEU1|Q9NT56|Q9NXH1	Missense_Mutation	SNP	ENST00000335464.5	37	CCDS32723.1	.	.	.	.	.	.	.	.	.	.	A	16.16	3.044754	0.55110	.	.	ENSG00000109066	ENST00000335464;ENST00000417024	T;T	0.45668	1.51;0.89	5.15	4.07	0.47477	.	0.098626	0.64402	D	0.000002	T	0.40322	0.1112	L	0.48642	1.525	0.48830	D	0.999714	P;P;B	0.45672	0.864;0.769;0.196	P;B;B	0.46362	0.514;0.275;0.165	T	0.10567	-1.0624	10	0.30078	T	0.28	-33.1063	10.796	0.46461	0.9252:0.0:0.0748:0.0	.	141;128;128	B4DKL7;Q8NE00-2;Q8NE00	.;.;TM104_HUMAN	G	128;141	ENSP00000334849:D128G;ENSP00000397676:D141G	ENSP00000334849:D128G	D	+	2	0	TMEM104	70298726	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	8.568000	0.90741	0.915000	0.36847	0.397000	0.26171	GAC		0.527	TMEM104-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444442.1	NM_017728		G	72787131	A	G	72787131	3	3	701	1	0	0	0	0	1	0	0	0	16023	275	10	3	401	3	TMEM104	17	72787131	Missense_Mutation	SNP	A	TCGA-KL-8332-01A-11D-2310-10	6248869	72787131	8408079	55	39010											
TCEB3C	162699	bcgsc.ca	37	18	44555274	44555274	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr18:44555274G>A	ENST00000330682.2	-	1	1175	c.940C>T	c.(940-942)Cgc>Tgc	p.R314C	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	314	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)			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						TTCACTCTGCGTCCAGGGAAA	0.637																																																0													251	258	256					18																	44555274		1909	3726	5635	SO:0001583	missense	162699			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.940C>T	18.37:g.44555274G>A	ENSP00000328232:p.Arg314Cys			Missense_Mutation	SNP	ENST00000330682.2	37	CCDS11931.1	.	.	.	.	.	.	.	.	.	.	g	8.358	0.832394	0.16820	.	.	ENSG00000183791	ENST00000330682	T	0.15487	2.42	1.1	-2.21	0.06973	.	1.173820	0.06346	N	0.708878	T	0.07863	0.0197	L	0.29908	0.895	0.19300	N	0.999974	D	0.57899	0.981	B	0.26094	0.066	T	0.21655	-1.0239	10	0.59425	D	0.04	-0.3943	4.3463	0.11134	0.0:0.454:0.316:0.2301	.	314	Q8NG57	ELOA3_HUMAN	C	314	ENSP00000328232:R314C	ENSP00000328232:R314C	R	-	1	0	TCEB3C	42809272	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.162000	0.16501	-2.006000	0.00958	-1.780000	0.00649	CGC		0.637	TCEB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255902.1	NM_145653		A	44555274	G	A	44555274	3	1	701	1	0	0	0	0	1	0	0	0	15688	1145	40	1	2347	1	TCEB3C	18	44555274	Missense_Mutation	SNP	G	TCGA-KL-8332-01A-11D-2310-10		44555274	33521974	56	39011											
PLIN4	729359	mdanderson.org	37	19	4511494	4511494	+	Silent	SNP	G	G	A	rs201001883		TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr19:4511494G>A	ENST00000301286.3	-	3	2435	c.2436C>T	c.(2434-2436)acC>acT	p.T812T		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	812	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						CCTTGGTACCGGTCAGCACGG	0.602																																																0													97	128	118					19																	4511494		2078	4204	6282	SO:0001819	synonymous_variant	729359			AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"Perilipins"	29393	protein-coding gene	gene with protein product		613247	"KIAA1881"	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.2436C>T	19.37:g.4511494G>A			A6NEI2	Silent	SNP	ENST00000301286.3	37	CCDS45927.1																																																																																				0.602	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		A	4511494	G	A	4511494	2	1	701	1	0	0	0	0	0	0	0	1	12094	1103	39	1		1	PLIN4	19	4511494	Silent	SNP	G	TCGA-KL-8332-01A-11D-2310-10		4511494	54617489	57	39012											
PLCB1	23236	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	20	8770880	8770880	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr20:8770880G>A	ENST00000338037.6	+	31	3422	c.3395G>A	c.(3394-3396)cGt>cAt	p.R1132H	PLCB1_ENST00000378637.2_Missense_Mutation_p.R1132H|PLCB1_ENST00000378641.3_Missense_Mutation_p.R1132H	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1132					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						AAGGAAATACGTCAGCAGATC	0.338																																																0													64	64	64					20																	8770880		2203	4300	6503	SO:0001583	missense	23236			AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.3395G>A	20.37:g.8770880G>A	ENSP00000338185:p.Arg1132His		D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	37	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.848790	0.91277	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719;ENST00000437439	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.98	5.98	0.97165	PLC-beta, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.57533	0.2060	L	0.44542	1.39	0.80722	D	1	D;D	0.76494	0.998;0.999	P;D	0.63957	0.86;0.92	T	0.49322	-0.8952	10	0.40728	T	0.16	.	20.4581	0.99154	0.0:0.0:1.0:0.0	.	1132;1132	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	H	1132;1132;1132;1052;1052;19	ENSP00000367908:R1132H;ENSP00000338185:R1132H;ENSP00000367904:R1132H;ENSP00000389911:R19H	ENSP00000338185:R1132H	R	+	2	0	PLCB1	8718880	1.000000	0.71417	0.559000	0.28332	0.988000	0.76386	6.710000	0.74670	2.835000	0.97688	0.650000	0.86243	CGT		0.338	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			A	8770880	G	A	8770880	3	1	701	1	0	0	0	0	1	0	0	0	12029	1145	40	1	3517	1	PLCB1	20	8770880	Missense_Mutation	SNP	G	TCGA-KL-8332-01A-11D-2310-10		8770880	54254640	58	39013											
COL20A1	57642	ucsc.edu	37	20	61950862	61950862	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr20:61950862T>C	ENST00000358894.6	+	23	2930	c.2830T>C	c.(2830-2832)Ttc>Ctc	p.F944L	COL20A1_ENST00000326996.6_Missense_Mutation_p.F944L|COL20A1_ENST00000435874.1_Missense_Mutation_p.F951L|COL20A1_ENST00000422202.1_Missense_Mutation_p.F951L	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	944	Laminin G-like.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CCTGACCTACTTCCACCGTGA	0.637																																																0													27	30	29					20																	61950862		1985	4152	6137	SO:0001583	missense	57642			BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"Collagens", "Fibronectin type III domain containing"	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.2830T>C	20.37:g.61950862T>C	ENSP00000351767:p.Phe944Leu		Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Missense_Mutation	SNP	ENST00000358894.6	37	CCDS46628.1	.	.	.	.	.	.	.	.	.	.	T	16.66	3.183948	0.57800	.	.	ENSG00000101203	ENST00000358894;ENST00000326996;ENST00000435874;ENST00000422202;ENST00000415763	T;T;T;T;T	0.21031	2.03;2.03;2.03;2.03;2.03	4.12	4.12	0.48240	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.061074	0.64402	D	0.000003	T	0.46833	0.1413	M	0.82323	2.585	0.44380	D	0.997287	D;D	0.76494	0.999;0.998	D;D	0.81914	0.995;0.989	T	0.51841	-0.8654	10	0.87932	D	0	.	10.6802	0.45811	0.0:0.0:0.0:1.0	.	951;944	Q9P218-2;Q9P218	.;COKA1_HUMAN	L	944;944;951;951;47	ENSP00000351767:F944L;ENSP00000323077:F944L;ENSP00000408690:F951L;ENSP00000414753:F951L;ENSP00000410799:F47L	ENSP00000323077:F944L	F	+	1	0	COL20A1	61421307	1.000000	0.71417	0.998000	0.56505	0.134000	0.20937	3.596000	0.54024	1.512000	0.48834	0.260000	0.18958	TTC		0.637	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882		C	61950862	T	C	61950862	3	2	701	1	0	0	0	0	1	0	0	0	3681	1609	56	3	2916	3	COL20A1	20	61950862	Missense_Mutation	SNP	T	TCGA-KL-8332-01A-11D-2310-10	53179982	61950862	1074658	59	39014											
BRWD1	54014	bcgsc.ca	37	21	40649185	40649185	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr21:40649185T>C	ENST00000333229.2	-	11	1423	c.1096A>G	c.(1096-1098)Agc>Ggc	p.S366G	BRWD1_ENST00000342449.3_Missense_Mutation_p.S366G|BRWD1_ENST00000380800.3_Missense_Mutation_p.S366G	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	366					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)				ACAGTGTGGCTTTCAAGTTCT	0.343																																					Melanoma(170;988 1986 4794 16843 39731)											0													82	79	80					21																	40649185		2203	4300	6503	SO:0001583	missense	54014			AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"WD repeat domain containing"	12760	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 107", "WD repeat domain 9"	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.1096A>G	21.37:g.40649185T>C	ENSP00000330753:p.Ser366Gly		C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	CCDS13662.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.093|9.093	1.002321|1.002321	0.19121|0.19121	.|.	.|.	ENSG00000185658|ENSG00000185658	ENST00000455867|ENST00000333229;ENST00000342449;ENST00000380800	.|T;T;T	.|0.44881	.|0.91;0.91;0.91	4.71|4.71	4.71|4.71	0.59529|0.59529	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.|0.071818	.|0.56097	.|D	.|0.000021	T|T	0.30039|0.30039	0.0752|0.0752	N|N	0.01405|0.01405	-0.89|-0.89	0.80722|0.80722	D|D	1|1	.|P;D;B	.|0.53619	.|0.906;0.961;0.217	.|P;P;B	.|0.62813	.|0.629;0.907;0.121	T|T	0.41324|0.41324	-0.9515|-0.9515	5|10	.|0.40728	.|T	.|0.16	-5.8987|-5.8987	9.1131|9.1131	0.36741|0.36741	0.0:0.0826:0.0:0.9174|0.0:0.0826:0.0:0.9174	.|.	.|77;366;366	.|Q5R2U6;Q9NSI6-2;Q9NSI6	.|.;.;BRWD1_HUMAN	R|G	77|366	.|ENSP00000330753:S366G;ENSP00000344333:S366G;ENSP00000370178:S366G	.|ENSP00000330753:S366G	K|S	-|-	2|1	0|0	BRWD1|BRWD1	39571055|39571055	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	1.785000|1.785000	0.38684|0.38684	1.878000|1.878000	0.54408|0.54408	0.482000|0.482000	0.46254|0.46254	AAG|AGC		0.343	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		C	40649185	T	C	40649185	3	2	701	1	0	0	0	0	1	0	0	0	1527	1609	56	3	6233	3	BRWD1	21	40649185	Missense_Mutation	SNP	T	TCGA-KL-8332-01A-11D-2310-10		40649185	7480710	60	39015											
BPIL2	254240	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	22	32831775	32831775	+	Silent	SNP	A	A	T			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr22:32831775A>T	ENST00000397452.1	-	9	950	c.840T>A	c.(838-840)atT>atA	p.I280I	BPIFC_ENST00000432451.2_Silent_p.I94I|BPIFC_ENST00000534972.1_Silent_p.I4I|BPIFC_ENST00000300399.3_Silent_p.I280I			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C	280						extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)										CGGCGATTCCAATGTAGAGCA	0.498																																																0													84	88	87					22																	32831775		2203	4300	6503	SO:0001819	synonymous_variant	254240			AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459		"BPI fold containing"	16503	protein-coding gene	gene with protein product		614109	"bactericidal/permeability-increasing protein-like 2"	BPIL2			Standard	NM_174932		Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273	ENST00000397452.1:c.840T>A	22.37:g.32831775A>T			A2RRF1	Silent	SNP	ENST00000397452.1	37	CCDS13906.1																																																																																				0.498	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129029.2	NM_174932		T	32831775	A	T	32831775	2	4	701	1	0	0	0	0	0	0	0	1	1494	126	5	5		5	BPIL2	22	32831775	Silent	SNP	A	TCGA-KL-8332-01A-11D-2310-10		32831775	18472791	61	39016											
RPGR	6103	broad.mit.edu	37	X	38145423	38145423	+	Intron	DEL	A	A	-	rs201655057		TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chrX:38145423delA	ENST00000339363.3	-	14	2688				RPGR_ENST00000378505.2_Frame_Shift_Del_p.D943fs|RPGR_ENST00000342811.3_Intron|RPGR_ENST00000318842.7_Intron|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000309513.3_Intron|RPGR_ENST00000338898.3_Intron			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator						cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						ccccttctccatcctcccctt	0.612																																																0													6	4	4					X																	38145423		1681	3119	4800	SO:0001627	intron_variant	6103			U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"retinitis pigmentosa 15", "cone dystrophy 1 (X-linked)"	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.2520+923T>-	X.37:g.38145423delA			B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Frame_Shift_Del	DEL	ENST00000339363.3	37																																																																																					0.612	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000328		-	38145423	A	-	38145423	6	5	701	0	1	1	0	1	0	0	0	0	13554	214	8	0		0	RPGR	23	38145423	Intron	DEL	A	TCGA-KL-8332-01A-11D-2310-10		38145423	117125137	62	39017											
MAGEC1	9947	broad.mit.edu	37	X	140994357	140994357	+	Missense_Mutation	SNP	C	C	A			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chrX:140994357C>A	ENST00000285879.4	+	4	1453	c.1167C>A	c.(1165-1167)ttC>ttA	p.F389L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	389										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)					TGAGTCTTTTCCAGAGTTCCC	0.488										HNSCC(15;0.026)																																						0													103	112	109					X																	140994357		2203	4294	6497	SO:0001583	missense	9947			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.1167C>A	X.37:g.140994357C>A	ENSP00000285879:p.Phe389Leu		A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	c	2.057	-0.416395	0.04766	.	.	ENSG00000155495	ENST00000285879	T	0.02085	4.46	.	.	.	.	.	.	.	.	T	0.01387	0.0045	N	0.08118	0	0.09310	N	0.999999	B	0.17667	0.023	B	0.09377	0.004	T	0.46555	-0.9183	8	0.87932	D	0	.	5.9409	0.19192	0.0:0.9994:0.0:6.0E-4	.	389	O60732	MAGC1_HUMAN	L	389	ENSP00000285879:F389L	ENSP00000285879:F389L	F	+	3	2	MAGEC1	140822023	0.064000	0.20934	0.054000	0.19295	0.054000	0.15201	0.203000	0.17315	0.148000	0.19059	0.150000	0.16122	TTC		0.488	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		A	140994357	C	A	140994357	3	1	701	1	0	0	0	0	1	0	0	0	9182	854	30	4	1173	4	MAGEC1	23	140994357	Missense_Mutation	SNP	C	TCGA-KL-8332-01A-11D-2310-10	102848934	140994357	14276203	63	39018											
PNMA5	114824	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	X	152159197	152159197	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chrX:152159197G>A	ENST00000439251.1	-	2	1384	c.946C>T	c.(946-948)Ccc>Tcc	p.P316S	PNMA5_ENST00000535214.1_Missense_Mutation_p.P316S|PNMA5_ENST00000452693.1_Missense_Mutation_p.P316S|PNMA5_ENST00000361887.5_Missense_Mutation_p.P316S	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	316					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)					AGAAAATTGGGAGGACACCCT	0.532																																																0													36	37	37					X																	152159197		2203	4300	6503	SO:0001583	missense	114824			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.946C>T	X.37:g.152159197G>A	ENSP00000388850:p.Pro316Ser		B4DI72|B7Z9Y9|Q495L5|Q8NET3	Missense_Mutation	SNP	ENST00000439251.1	37	CCDS14718.1	.	.	.	.	.	.	.	.	.	.	g	18.24	3.579632	0.65992	.	.	ENSG00000198883	ENST00000361887;ENST00000535214;ENST00000439251;ENST00000452693	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	3.07	3.07	0.35406	.	.	.	.	.	T	0.64853	0.2636	M	0.84948	2.725	0.20074	N	0.999937	D	0.89917	1.0	D	0.97110	1.0	T	0.52019	-0.8631	9	0.72032	D	0.01	.	8.8853	0.35400	0.0:0.0:1.0:0.0	.	316	Q96PV4	PNMA5_HUMAN	S	316	ENSP00000354834:P316S;ENSP00000445775:P316S;ENSP00000388850:P316S;ENSP00000392342:P316S	ENSP00000354834:P316S	P	-	1	0	PNMA5	151909853	0.970000	0.33590	0.113000	0.21522	0.434000	0.31775	3.652000	0.54439	1.830000	0.53286	0.287000	0.19450	CCC		0.532	PNMA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060925.1	NM_052926		A	152159197	G	A	152159197	3	1	701	1	0	0	0	0	1	0	0	0	12158	1174	41	2	404	2	PNMA5	23	152159197	Missense_Mutation	SNP	G	TCGA-KL-8332-01A-11D-2310-10	11164840	152159197	3111363	64	39019											
AK2	204	mdanderson.org	37	1	33478931	33478931	+	Missense_Mutation	SNP	G	G	C	rs80324279		TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr1:33478931G>C	ENST00000373449.2	-	6	612	c.571C>G	c.(571-573)Cac>Gac	p.H191D	AK2_ENST00000491241.1_5'Flank|AK2_ENST00000467905.1_Missense_Mutation_p.H191D|AK2_ENST00000548033.1_Missense_Mutation_p.H149D|AK2_ENST00000354858.6_Missense_Mutation_p.H191D|AK2_ENST00000480134.1_3'UTR|RP1-117O3.2_ENST00000427524.1_RNA	NM_001199199.1|NM_013411.4	NP_001186128.1|NP_037543.1			adenylate kinase 2											kidney(1)|large_intestine(2)|lung(4)|skin(1)	8		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				GTTTGAGTGTGGTAGGCTTGC	0.527																																																0													113	105	108					1																	33478931		2203	4300	6503	SO:0001583	missense	204			U84371	CCDS373.1, CCDS374.1	1p35.1	2014-09-17			ENSG00000004455	ENSG00000004455	2.7.4.3	"Adenylate kinases"	362	protein-coding gene	gene with protein product		103020				8843353, 6961883	Standard	NM_013411		Approved		uc001bwp.2	P54819	OTTHUMG00000004131	ENST00000373449.2:c.571C>G	1.37:g.33478931G>C	ENSP00000362548:p.His191Asp			Missense_Mutation	SNP	ENST00000373449.2	37	CCDS373.1	575	0.2632783882783883	164	0.3333333333333333	100	0.27624309392265195	109	0.19055944055944055	202	0.26649076517150394	G	18.15	3.558980	0.65538	.	.	ENSG00000004455	ENST00000373449;ENST00000548033;ENST00000467905;ENST00000354858	T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.00012	0.0000	M	0.75264	2.295	0.80722	D	1	P;D;P;P	0.65815	0.625;0.995;0.856;0.625	B;P;P;B	0.60473	0.368;0.875;0.501;0.368	T	0.00021	-1.2347	10	0.87932	D	0	-12.0924	19.5674	0.95401	0.0:0.0:1.0:0.0	.	183;149;191;191	P54819-5;F8VY04;P54819;P54819-2	.;.;KAD2_HUMAN;.	D	191;149;191;191	ENSP00000362548:H191D;ENSP00000449003:H149D;ENSP00000447082:H191D;ENSP00000346921:H191D	ENSP00000346921:H191D	H	-	1	0	AK2	33251518	1.000000	0.71417	1.000000	0.80357	0.282000	0.26991	9.827000	0.99397	2.793000	0.96121	0.563000	0.77884	CAC		0.527	AK2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011884.1	NM_001625		C	33478931	G	C	33478931	3	2	702	1	0	0	0	0	1	0	0	0	440	1348	47	4	161	4	AK2	1	33478931	Missense_Mutation	SNP	G	TCGA-KL-8333-01A-11D-2310-10		33478931	215771690	1	39020			1	72		2	2	53	G		9.742152e-05
AK2	204	mdanderson.org	37	1	33478983	33478983	+	Silent	SNP	G	G	A	rs79403800		TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr1:33478983G>A	ENST00000373449.2	-	6	560	c.519C>T	c.(517-519)atC>atT	p.I173I	AK2_ENST00000491241.1_5'Flank|AK2_ENST00000467905.1_Silent_p.I173I|AK2_ENST00000548033.1_Silent_p.I131I|AK2_ENST00000354858.6_Silent_p.I173I|AK2_ENST00000480134.1_3'UTR|RP1-117O3.2_ENST00000427524.1_RNA	NM_001199199.1|NM_013411.4	NP_001186128.1|NP_037543.1			adenylate kinase 2											kidney(1)|large_intestine(2)|lung(4)|skin(1)	8		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				CTGATCGACGGATCAAGGGTT	0.483																																																0													58	55	56					1																	33478983		2203	4300	6503	SO:0001819	synonymous_variant	204			U84371	CCDS373.1, CCDS374.1	1p35.1	2014-09-17			ENSG00000004455	ENSG00000004455	2.7.4.3	"Adenylate kinases"	362	protein-coding gene	gene with protein product		103020				8843353, 6961883	Standard	NM_013411		Approved		uc001bwp.2	P54819	OTTHUMG00000004131	ENST00000373449.2:c.519C>T	1.37:g.33478983G>A				Silent	SNP	ENST00000373449.2	37	CCDS373.1																																																																																				0.483	AK2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011884.1	NM_001625		A	33478983	G	A	33478983	2	1	702	1	0	0	0	0	0	0	0	1	440	1164	41	2		2	AK2	1	33478983	Silent	SNP	G	TCGA-KL-8333-01A-11D-2310-10	52	33478983	215771638	2	39021			1	72		2	2	53	G		9.742152e-05
MAP7D1	55700	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	36643614	36643614	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr1:36643614G>A	ENST00000373151.2	+	9	1736	c.1520G>A	c.(1519-1521)cGg>cAg	p.R507Q	MAP7D1_ENST00000373150.4_Missense_Mutation_p.R475Q|MAP7D1_ENST00000373148.4_Missense_Mutation_p.R53Q|MAP7D1_ENST00000316156.4_Missense_Mutation_p.R470Q	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	507	Pro-rich.				microtubule cytoskeleton organization (GO:0000226)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				CCCAAGGGGCGGGTTCGGAGG	0.692																																																0													40	43	42					1																	36643614		2203	4300	6503	SO:0001583	missense	55700			AK096341	CCDS30673.1, CCDS65492.1, CCDS65493.1	1p34.3	2008-02-05	2007-02-08	2007-02-08	ENSG00000116871	ENSG00000116871			25514	protein-coding gene	gene with protein product			"proline arginine rich coiled coil 1", "arginine/proline rich coiled-coil 1"	PARCC1, RPRC1		10574461	Standard	XM_005271024		Approved	FLJ10350, FLJ39022	uc001bzz.3	Q3KQU3	OTTHUMG00000007714	ENST00000373151.2:c.1520G>A	1.37:g.36643614G>A	ENSP00000362244:p.Arg507Gln		D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	Missense_Mutation	SNP	ENST00000373151.2	37	CCDS30673.1	.	.	.	.	.	.	.	.	.	.	G	12.36	1.914600	0.33815	.	.	ENSG00000116871	ENST00000316156;ENST00000373150;ENST00000373151;ENST00000373148	T;T;T;T	0.52983	0.64;0.64;0.64;0.64	5.04	4.13	0.48395	.	0.415672	0.17946	N	0.156694	T	0.61837	0.2379	M	0.62723	1.935	0.33900	D	0.638424	B;D;B;B;D	0.76494	0.062;0.999;0.013;0.013;0.999	B;D;B;B;D	0.72625	0.01;0.978;0.005;0.003;0.978	T	0.70371	-0.4890	10	0.49607	T	0.09	-8.286	9.1503	0.36959	0.0989:0.0:0.9011:0.0	.	53;507;470;475;507	Q3KQU3-3;D3DPS3;Q3KQU3-2;Q3KQU3-4;Q3KQU3	.;.;.;.;MA7D1_HUMAN	Q	470;475;507;53	ENSP00000320228:R470Q;ENSP00000362243:R475Q;ENSP00000362244:R507Q;ENSP00000362241:R53Q	ENSP00000320228:R470Q	R	+	2	0	MAP7D1	36416201	1.000000	0.71417	0.875000	0.34327	0.002000	0.02628	4.004000	0.57068	1.344000	0.45657	0.655000	0.94253	CGG		0.692	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382095.1	NM_018067		A	36643614	G	A	36643614	3	1	702	1	0	0	0	0	1	0	0	0	9269	1116	39	1	1554	1	MAP7D1	1	36643614	Missense_Mutation	SNP	G	TCGA-KL-8333-01A-11D-2310-10	3164631	36643614	212607007	3	39022											
MYBPHL	343263	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	1	109840181	109840181	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr1:109840181C>T	ENST00000357155.1	-	3	342	c.293G>A	c.(292-294)cGt>cAt	p.R98H	MYBPHL_ENST00000477962.1_Intron	NM_001010985.2|NM_001265613.1	NP_001010985.2|NP_001252542.1	A2RUH7	MBPHL_HUMAN	myosin binding protein H-like	98	Ig-like C2-type 1.									central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)		CACACTCACACGCCTGGTGTC	0.587																																																0													89	80	83					1																	109840181		2203	4300	6503	SO:0001583	missense	343263			AK129834	CCDS30793.1	1p13	2013-02-11			ENSG00000221986	ENSG00000221986		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	30434	protein-coding gene	gene with protein product							Standard	NM_001010985		Approved		uc001dxk.1	A2RUH7	OTTHUMG00000012002	ENST00000357155.1:c.293G>A	1.37:g.109840181C>T	ENSP00000349678:p.Arg98His		B7ZME5|Q5T2Z7	Missense_Mutation	SNP	ENST00000357155.1	37	CCDS30793.1	.	.	.	.	.	.	.	.	.	.	C	10.46	1.355964	0.24598	.	.	ENSG00000221986	ENST00000357155	T	0.52057	0.68	4.63	2.76	0.32466	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.41050	0.1142	L	0.48260	1.515	0.19300	N	0.999975	D;B	0.89917	1.0;0.013	D;B	0.69824	0.966;0.012	T	0.09930	-1.0652	9	0.44086	T	0.13	.	5.9414	0.19196	0.0:0.7081:0.0:0.2919	.	98;98	B7ZME5;A2RUH7	.;MBPHL_HUMAN	H	98	ENSP00000349678:R98H	ENSP00000349678:R98H	R	-	2	0	MYBPHL	109641704	0.000000	0.05858	0.940000	0.37924	0.691000	0.40173	0.219000	0.17641	1.320000	0.45209	0.655000	0.94253	CGT		0.587	MYBPHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033197.1	NM_001010985		T	109840181	C	T	109840181	3	4	702	1	0	0	0	0	1	0	0	0	10017	536	19	1	795	1	MYBPHL	1	109840181	Missense_Mutation	SNP	C	TCGA-KL-8333-01A-11D-2310-10	73196567	109840181	139410440	4	39023											
USP21	27005	broad.mit.edu	37	1	161132827	161132827	+	Missense_Mutation	SNP	C	C	T	rs148729808	byFrequency	TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr1:161132827C>T	ENST00000289865.8	+	6	1233	c.1012C>T	c.(1012-1014)Cgc>Tgc	p.R338C	USP21_ENST00000368001.1_Missense_Mutation_p.R338C|USP21_ENST00000368002.3_Missense_Mutation_p.R338C	NM_012475.4	NP_036607.3	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	338	USP.				histone deubiquitination (GO:0016578)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cysteine-type peptidase activity (GO:0008234)|metal ion binding (GO:0046872)|NEDD8-specific protease activity (GO:0019784)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CTCTCCACCCCGCCGAGGAGG	0.557																																																0								C	CYS/ARG,CYS/ARG	3,4403	6.2+/-15.9	0,3,2200	82	89	86		1012,1012	0.5	0.3	1	dbSNP_134	86	6,8594	5.0+/-18.6	0,6,4294	yes	missense,missense	USP21	NM_001014443.2,NM_012475.4	180,180	0,9,6494	TT,TC,CC		0.0698,0.0681,0.0692	probably-damaging,probably-damaging	338/566,338/566	161132827	9,12997	2203	4300	6503	SO:0001583	missense	27005			AF177758	CCDS30920.1	1q22	2008-04-11	2005-08-08		ENSG00000143258	ENSG00000143258		"Ubiquitin-specific peptidases"	12620	protein-coding gene	gene with protein product		604729	"ubiquitin specific protease 21"	USP23		12838346, 10799498	Standard	XM_006711273		Approved	USP16	uc010pkd.2	Q9UK80	OTTHUMG00000033154	ENST00000289865.8:c.1012C>T	1.37:g.161132827C>T	ENSP00000289865:p.Arg338Cys		Q59H60|Q5BKT5|Q5VTW9|Q5VTX0|Q9BTV1|Q9HBS2|Q9NYN4	Missense_Mutation	SNP	ENST00000289865.8	37	CCDS30920.1	.	.	.	.	.	.	.	.	.	.	C	11.09	1.535267	0.27475	6.81E-4	6.98E-4	ENSG00000143258	ENST00000368002;ENST00000289865;ENST00000368001	T;T;T	0.16324	2.52;2.52;2.35	4.72	0.51	0.16983	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	.	.	.	.	T	0.04815	0.0130	L	0.46670	1.46	0.33260	D	0.559581	B	0.02656	0.0	B	0.01281	0.0	T	0.17349	-1.0372	9	0.48119	T	0.1	.	3.6427	0.08173	0.1724:0.5373:0.0:0.2904	.	338	Q9UK80	UBP21_HUMAN	C	338	ENSP00000356981:R338C;ENSP00000289865:R338C;ENSP00000356980:R338C	ENSP00000289865:R338C	R	+	1	0	USP21	159399451	0.473000	0.25878	0.291000	0.24904	0.711000	0.40976	0.033000	0.13754	0.217000	0.20800	-0.463000	0.05309	CGC		0.557	USP21-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080801.1			T	161132827	C	T	161132827	3	4	702	1	0	0	0	0	1	0	0	0	17058	652	23	1	1030	1	USP21	1	161132827	Missense_Mutation	SNP	C	TCGA-KL-8333-01A-11D-2310-10	51292646	161132827	88117794	5	39024											
OR2M2	391194	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	1	248343636	248343636	+	Missense_Mutation	SNP	G	G	C			TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr1:248343636G>C	ENST00000359682.2	+	1	349	c.349G>C	c.(349-351)Gtt>Ctt	p.V117L		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	117						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V117I(1)		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)			TCTTTTGGCTGTTATGGCTTA	0.403																																																1	Substitution - Missense(1)	lung(1)											206	220	215					1																	248343636		2203	4300	6503	SO:0001583	missense	391194			AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"GPCR / Class A : Olfactory receptors"	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.349G>C	1.37:g.248343636G>C	ENSP00000352710:p.Val117Leu		A3KFT4	Missense_Mutation	SNP	ENST00000359682.2	37	CCDS31106.1	.	.	.	.	.	.	.	.	.	.	g	0.006	-2.063815	0.00386	.	.	ENSG00000198601	ENST00000359682	T	0.05139	3.49	2.03	-0.334	0.12666	GPCR, rhodopsin-like superfamily (1);	0.744519	0.10380	U	0.681646	T	0.04048	0.0113	L	0.38175	1.15	0.09310	N	1	B	0.17268	0.021	B	0.19666	0.026	T	0.47873	-0.9083	10	0.05833	T	0.94	.	3.9033	0.09171	0.2465:0.0:0.5662:0.1872	.	117	Q96R28	OR2M2_HUMAN	L	117	ENSP00000352710:V117L	ENSP00000352710:V117L	V	+	1	0	OR2M2	246410259	0.004000	0.15560	0.000000	0.03702	0.000000	0.00434	1.410000	0.34691	-0.220000	0.09988	-0.396000	0.06452	GTT		0.403	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		C	248343636	G	C	248343636	3	2	702	1	0	0	0	0	1	0	0	0	11012	1377	48	4	351	4	OR2M2	1	248343636	Missense_Mutation	SNP	G	TCGA-KL-8333-01A-11D-2310-10	87210809	248343636	906985	6	39025											
OR2M2	391194	broad.mit.edu;mdanderson.org	37	1	248343935	248343935	+	Silent	SNP	T	T	C			TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr1:248343935T>C	ENST00000359682.2	+	1	648	c.648T>C	c.(646-648)gcT>gcC	p.A216A		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	216						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)			TCATCATTGCTTCCTATGCTC	0.438																																																0													224	207	213					1																	248343935		2203	4300	6503	SO:0001819	synonymous_variant	391194			AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"GPCR / Class A : Olfactory receptors"	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.648T>C	1.37:g.248343935T>C			A3KFT4	Silent	SNP	ENST00000359682.2	37	CCDS31106.1																																																																																				0.438	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		C	248343935	T	C	248343935	2	2	702	1	0	0	0	0	0	0	0	1	11012	1596	56	3		3	OR2M2	1	248343935	Silent	SNP	T	TCGA-KL-8333-01A-11D-2310-10	299	248343935	906686	7	39026											
TRIM43	129868	mdanderson.org	37	2	96260889	96260889	+	Missense_Mutation	SNP	G	G	T	rs199714127		TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr2:96260889G>T	ENST00000272395.2	+	3	639	c.503G>T	c.(502-504)tGg>tTg	p.W168L		NM_001164464.1|NM_138800.1	NP_001157936.1|NP_620155.1	Q96BQ3	TRI43_HUMAN	tripartite motif containing 43	168						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|lung(7)|ovary(1)	12						GCCTTCCTCTGGAGGGTAAGT	0.398																																																0													64	61	62					2																	96260889		2203	4299	6502	SO:0001583	missense	129868			BK000505	CCDS2015.1	2q11	2014-02-17	2011-01-25		ENSG00000144015	ENSG00000144015		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19015	protein-coding gene	gene with protein product			"tripartite motif-containing 43"				Standard	NM_138800		Approved	TRIM43A	uc002suv.3	Q96BQ3	OTTHUMG00000130401	ENST00000272395.2:c.503G>T	2.37:g.96260889G>T	ENSP00000272395:p.Trp168Leu		Q53TJ7	Missense_Mutation	SNP	ENST00000272395.2	37	CCDS2015.1	.	.	.	.	.	.	.	.	.	.	.	1.918	-0.448952	0.04572	.	.	ENSG00000144015	ENST00000272395	T	0.03124	4.04	0.629	0.629	0.17687	.	.	.	.	.	T	0.03915	0.0110	L	0.43152	1.355	0.09310	N	1	B	0.33022	0.394	B	0.34180	0.177	T	0.43065	-0.9414	8	0.30854	T	0.27	-0.0398	.	.	.	.	168	Q96BQ3	TRI43_HUMAN	L	168	ENSP00000272395:W168L	ENSP00000272395:W168L	W	+	2	0	TRIM43	95624616	0.235000	0.23794	0.009000	0.14445	0.010000	0.07245	0.666000	0.25097	0.639000	0.30564	0.375000	0.23000	TGG		0.398	TRIM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252784.1	NM_138800		T	96260889	G	T	96260889	3	4	702	1	0	0	0	0	1	0	0	0	16523	1357	47	4	509	4	TRIM43	2	96260889	Missense_Mutation	SNP	G	TCGA-KL-8333-01A-11D-2310-10		96260889	146938484	8	39027											
ABCB11	8647	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	2	169842725	169842725	+	Silent	SNP	A	A	C			TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr2:169842725A>C	ENST00000263817.6	-	10	1102	c.978T>G	c.(976-978)acT>acG	p.T326T		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	326	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	ACACGAATCCAGTAAAGAATC	0.443																																																0													155	147	150					2																	169842725		1914	4128	6042	SO:0001819	synonymous_variant	8647			AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"ATP binding cassette transporters / subfamily B"	42	protein-coding gene	gene with protein product	"ABC member 16, MDR/TAP subfamily"	603201	"progressive familial intrahepatic cholestasis 2", "bile salt export pump"	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.978T>G	2.37:g.169842725A>C			Q53TL2|Q9UNB2	Silent	SNP	ENST00000263817.6	37	CCDS46444.1																																																																																				0.443	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742		C	169842725	A	C	169842725	2	2	702	1	0	0	0	0	0	0	0	1	42	175	7	5		5	ABCB11	2	169842725	Silent	SNP	A	TCGA-KL-8333-01A-11D-2310-10	73581836	169842725	73356648	9	39028											
PARD3B	117583	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	2	206037069	206037069	+	Silent	SNP	G	G	A			TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr2:206037069G>A	ENST00000406610.2	+	12	1962	c.1755G>A	c.(1753-1755)caG>caA	p.Q585Q	PARD3B_ENST00000462231.1_Silent_p.Q585Q|PARD3B_ENST00000358768.2_Silent_p.Q523Q|PARD3B_ENST00000349953.3_Silent_p.Q585Q|PARD3B_ENST00000351153.1_Silent_p.Q585Q	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	585	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		GGATGATCCAGTTGGTGATTC	0.488																																																0													105	108	107					2																	206037069		1971	4171	6142	SO:0001819	synonymous_variant	117583			AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19", "par-3 partitioning defective 3 homolog B (C. elegans)"	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.1755G>A	2.37:g.206037069G>A			E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Silent	SNP	ENST00000406610.2	37																																																																																					0.488	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177		A	206037069	G	A	206037069	2	1	702	1	0	0	0	0	0	0	0	1	11446	1020	36	2		2	PARD3B	2	206037069	Silent	SNP	G	TCGA-KL-8333-01A-11D-2310-10	36194344	206037069	37162304	10	39029											
GBX2	2637	broad.mit.edu;bcgsc.ca	37	2	237074936	237074936	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr2:237074936T>C	ENST00000306318.4	-	2	1065	c.668A>G	c.(667-669)gAc>gGc	p.D223G	GBX2_ENST00000551105.1_3'UTR|AC079135.1_ENST00000415226.1_RNA|AC079135.1_ENST00000483218.1_RNA|GBX2_ENST00000465889.1_5'UTR	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN	gastrulation brain homeobox 2	223				QAAHKEEDPGHALEETPPSSGA -> PGSSQGGRPGPRGGG DPAEQRR (in Ref. 6). {ECO:0000305}.	autonomic nervous system development (GO:0048483)|axon guidance (GO:0007411)|cerebellar granule cell precursor proliferation (GO:0021930)|cerebellum development (GO:0021549)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|patterning of blood vessels (GO:0001569)|rhombomere 2 development (GO:0021568)|thalamus development (GO:0021794)|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)|kidney(1)|large_intestine(1)|lung(4)	7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		GTGGCCCGGGTCTTCCTCCTT	0.677																																																0													50	50	50					2																	237074936		2203	4300	6503	SO:0001583	missense	2637			AF118452	CCDS2515.1	2q37.2	2012-03-09	2005-12-22		ENSG00000168505	ENSG00000168505		"Homeoboxes / ANTP class : HOXL subclass"	4186	protein-coding gene	gene with protein product		601135	"gastrulation brain homeo box 2"			9346236, 8838315	Standard	XM_005246071		Approved		uc002vvw.1	P52951	OTTHUMG00000133294	ENST00000306318.4:c.668A>G	2.37:g.237074936T>C	ENSP00000302251:p.Asp223Gly		B2RPH7|O43833|Q53RX5|Q9Y5Y1	Missense_Mutation	SNP	ENST00000306318.4	37	CCDS2515.1	.	.	.	.	.	.	.	.	.	.	T	12.43	1.934558	0.34189	.	.	ENSG00000168505	ENST00000306318	D	0.92048	-2.96	4.29	4.29	0.51040	Homeodomain-like (1);	0.054903	0.64402	D	0.000001	D	0.83008	0.5161	N	0.17082	0.46	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.76610	-0.2896	10	0.25751	T	0.34	-14.1119	8.9765	0.35939	0.0:0.0888:0.0:0.9112	.	223	P52951	GBX2_HUMAN	G	223	ENSP00000302251:D223G	ENSP00000302251:D223G	D	-	2	0	GBX2	236739675	1.000000	0.71417	0.993000	0.49108	0.749000	0.42624	4.165000	0.58196	1.582000	0.49881	0.379000	0.24179	GAC		0.677	GBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257078.3	NM_001485		C	237074936	T	C	237074936	3	2	702	1	0	0	0	0	1	0	0	0	6283	1667	58	3	382	3	GBX2	2	237074936	Missense_Mutation	SNP	T	TCGA-KL-8333-01A-11D-2310-10	31037867	237074936	6124437	11	39030											
RBM15B	29890	ucsc.edu;bcgsc.ca	37	3	51429336	51429336	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr3:51429336T>C	ENST00000323686.4	+	1	606	c.506T>C	c.(505-507)aTc>aCc	p.I169T		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	169	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TTCGGCGAGATCAGCCTCCGC	0.677																																																0													37	44	42					3																	51429336		2122	4155	6277	SO:0001583	missense	29890			AL831838	CCDS33764.1	3p21.1	2013-02-12			ENSG00000179837	ENSG00000259956		"RNA binding motif (RRM) containing"	24303	protein-coding gene	gene with protein product		612602				16129689	Standard	NM_013286		Approved	HUMAGCGB, OTT3	uc003dbd.3	Q8NDT2	OTTHUMG00000156896	ENST00000323686.4:c.506T>C	3.37:g.51429336T>C	ENSP00000313890:p.Ile169Thr		A4QPG7|Q6QE19|Q9BV96	Missense_Mutation	SNP	ENST00000323686.4	37	CCDS33764.1	.	.	.	.	.	.	.	.	.	.	T	16.05	3.012455	0.54468	.	.	ENSG00000179837	ENST00000323686	T	0.15139	2.45	3.88	3.88	0.44766	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	.	.	.	.	T	0.12732	0.0309	L	0.29908	0.895	0.39091	D	0.961106	P	0.47409	0.895	B	0.38842	0.283	T	0.08659	-1.0711	9	0.87932	D	0	.	11.9967	0.53208	0.0:0.0:0.0:1.0	.	169	Q8NDT2	RB15B_HUMAN	T	169	ENSP00000313890:I169T	ENSP00000313890:I169T	I	+	2	0	RBM15B	51404376	1.000000	0.71417	0.996000	0.52242	0.980000	0.70556	4.271000	0.58902	1.540000	0.49301	0.379000	0.24179	ATC		0.677	RBM15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346489.1	NM_013286		C	51429336	T	C	51429336	3	2	702	1	0	0	0	0	1	0	0	0	13123	1435	50	3	508	3	RBM15B	3	51429336	Missense_Mutation	SNP	T	TCGA-KL-8333-01A-11D-2310-10		51429336	146593094	12	39031											
MCF2L2	23101	hgsc.bcm.edu	37	3	183145747	183145747	+	Missense_Mutation	SNP	C	C	T	rs372591631	byFrequency	TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr3:183145747C>T	ENST00000328913.3	-	1	316	c.19G>A	c.(19-21)Gaa>Aaa	p.E7K	MCF2L2_ENST00000414362.2_Missense_Mutation_p.E7K|MCF2L2_ENST00000473233.1_Missense_Mutation_p.E7K|MCF2L2_ENST00000447025.2_Missense_Mutation_p.E7K	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	7							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)			GGCATCTCTTCTTTTAAGCAA	0.438																																																0													90	96	94					3																	183145747		2203	4300	6503	SO:0001583	missense	23101			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.19G>A	3.37:g.183145747C>T	ENSP00000328118:p.Glu7Lys		O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP	ENST00000328913.3	37	CCDS3243.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.255402	0.59321	.	.	ENSG00000053524	ENST00000328913;ENST00000473233;ENST00000447025;ENST00000414362	T;T;T;T	0.06294	4.42;4.5;3.63;3.32	5.31	4.42	0.53409	.	0.187638	0.33217	N	0.005153	T	0.07773	0.0195	N	0.24115	0.695	0.27149	N	0.961459	P;P	0.51791	0.939;0.948	P;P	0.50314	0.637;0.588	T	0.09207	-1.0685	10	0.72032	D	0.01	.	9.0986	0.36653	0.0:0.8969:0.0:0.1031	.	7;7	Q86YR7-2;Q86YR7	.;MF2L2_HUMAN	K	7	ENSP00000328118:E7K;ENSP00000420070:E7K;ENSP00000388190:E7K;ENSP00000414131:E7K	ENSP00000328118:E7K	E	-	1	0	MCF2L2	184628441	1.000000	0.71417	0.772000	0.31596	0.835000	0.47333	2.586000	0.46119	1.201000	0.43203	0.655000	0.94253	GAA		0.438	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078		T	183145747	C	T	183145747	3	4	702	1	0	0	0	0	1	0	0	0	9382	922	32	2	3445	2	MCF2L2	3	183145747	Missense_Mutation	SNP	C	TCGA-KL-8333-01A-11D-2310-10	131716411	183145747	14876683	13	39032											
LETM1	3954	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	4	1821161	1821162	+	Missense_Mutation	DNP	GC	GC	AG			TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	GC	GC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr4:1821161_1821162GC>AG	ENST00000302787.2	-	11	1942_1943	c.1646_1647GC>CT	c.(1645-1647)aGC>aCT	p.S549T		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	549					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)			AGCAGGCATCGCTGAGGATGTC	0.535																																																0																																										SO:0001583	missense	3954			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.1646_1647delinsAG	4.37:g.1821161_1821162delinsAG	ENSP00000305653:p.Ser549Thr		B4DED2|Q9UF65	Missense_Mutation	DNP	ENST00000302787.2	37	CCDS3355.1																																																																																				0.535	LETM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241634.1			AG	1821162	GC	AG	1821161	3	1	702	1	0	0	0	0	1	0	0	0	8736	1078	38	1	588	1	LETM1	4	1821161	Missense_Mutation	DNP	GC	TCGA-KL-8333-01A-11D-2310-10		1821161	189333115	14	39033	315	2									
LETM1	3954	bcgsc.ca	37	4	1821162	1821162	+	Missense_Mutation	SNP	C	C	G			TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr4:1821162C>G	ENST00000302787.2	-	11	1942	c.1646G>C	c.(1645-1647)aGc>aCc	p.S549T		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	549					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)			GCAGGCATCGCTGAGGATGTC	0.532																																																0													129	109	116					4																	1821162		2203	4300	6503	SO:0001583	missense	3954			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.1646G>C	4.37:g.1821162C>G	ENSP00000305653:p.Ser549Thr		B4DED2|Q9UF65	Missense_Mutation	SNP	ENST00000302787.2	37	CCDS3355.1	.	.	.	.	.	.	.	.	.	.	c	16.49	3.137957	0.56936	.	.	ENSG00000168924	ENST00000302787	.	.	.	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.57125	0.2032	M	0.70275	2.135	0.50813	D	0.99989	P	0.46395	0.877	B	0.40741	0.339	T	0.64136	-0.6478	9	0.56958	D	0.05	-30.019	12.7556	0.57333	0.0:0.9198:0.0:0.0802	.	549	O95202	LETM1_HUMAN	T	549	.	ENSP00000305653:S549T	S	-	2	0	LETM1	1790960	1.000000	0.71417	0.782000	0.31804	0.716000	0.41182	5.032000	0.64140	2.407000	0.81776	0.655000	0.94253	AGC		0.532	LETM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241634.1			G	1821162	C	G	1821162	3	3	702	1	0	0	0	0	1	0	0	0	8736	797	28	4	589	4	LETM1	4	1821162	Missense_Mutation	SNP	C	TCGA-KL-8333-01A-11D-2310-10	1	1821162	189333114	15	39034	315	2									
OTOP1	133060	broad.mit.edu	37	4	4228459	4228459	+	Frame_Shift_Del	DEL	G	G	-	rs553397205		TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr4:4228459delG	ENST00000296358.4	-	1	157	c.133delC	c.(133-135)cggfs	p.R46fs		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	46					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)		ccgccccgccggggggccggg	0.736																																																0													3	4	4					4																	4228459		1958	3835	5793	SO:0001589	frameshift_variant	133060			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.133delC	4.37:g.4228459delG	ENSP00000296358:p.Arg46fs		A1L476	Frame_Shift_Del	DEL	ENST00000296358.4	37	CCDS3372.1																																																																																				0.736	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		-	4228459	G	-	4228459	7	5	702	1	0	1	0	1	0	0	0	0	11307	1115	39	0	1729	0	OTOP1	4	4228459	Frame_Shift_Del	DEL	G	TCGA-KL-8333-01A-11D-2310-10	2407297	4228459	186925817	16	39035											
PDE8B	8622	broad.mit.edu	37	5	76714238	76714238	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr5:76714238A>G	ENST00000264917.5	+	18	2141	c.2096A>G	c.(2095-2097)gAc>gGc	p.D699G	PDE8B_ENST00000340978.3_Missense_Mutation_p.D652G|PDE8B_ENST00000333194.4_Missense_Mutation_p.D644G|PDE8B_ENST00000346042.3_Missense_Mutation_p.D602G|PDE8B_ENST00000505283.1_Missense_Mutation_p.D164G|PDE8B_ENST00000342343.4_Missense_Mutation_p.D679G	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	699	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)	ACGGTCAAGGACACCAAATGC	0.483																																																0													83	68	73					5																	76714238		2203	4300	6503	SO:0001583	missense	8622			AF079529	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	5q14.1	2008-05-15			ENSG00000113231	ENSG00000113231	3.1.4.17	"Phosphodiesterases"	8794	protein-coding gene	gene with protein product		603390				9784418	Standard	NM_003719		Approved		uc003kfa.3	O95263	OTTHUMG00000102170	ENST00000264917.5:c.2096A>G	5.37:g.76714238A>G	ENSP00000264917:p.Asp699Gly		Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Missense_Mutation	SNP	ENST00000264917.5	37	CCDS4037.1	.	.	.	.	.	.	.	.	.	.	A	18.53	3.644819	0.67358	.	.	ENSG00000113231	ENST00000340978;ENST00000346042;ENST00000264917;ENST00000342343;ENST00000333194;ENST00000505283	D;D;D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57;-1.57;-1.57	5.75	5.75	0.90469	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	0.85691	0.5755	M	0.73430	2.235	0.80722	D	1	B;B;B;B;B	0.31274	0.086;0.057;0.317;0.206;0.071	B;B;B;B;B	0.38500	0.275;0.105;0.233;0.169;0.26	D	0.85748	0.1341	10	0.66056	D	0.02	.	16.0519	0.80769	1.0:0.0:0.0:0.0	.	602;652;644;679;699	O95263-2;O95263-6;O95263-3;O95263-4;O95263	.;.;.;.;PDE8B_HUMAN	G	652;602;699;679;644;164	ENSP00000345446:D652G;ENSP00000330428:D602G;ENSP00000264917:D699G;ENSP00000345646:D679G;ENSP00000331336:D644G;ENSP00000423461:D164G	ENSP00000264917:D699G	D	+	2	0	PDE8B	76749994	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	9.339000	0.96797	2.196000	0.70406	0.533000	0.62120	GAC		0.483	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000220015.3	NM_003719		G	76714238	A	G	76714238	3	3	702	1	0	0	0	0	1	0	0	0	11656	275	10	3	2166	3	PDE8B	5	76714238	Missense_Mutation	SNP	A	TCGA-KL-8333-01A-11D-2310-10		76714238	104201022	17	39036											
TFAP2A	7020	ucsc.edu	37	6	10410153	10410153	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr6:10410153T>C	ENST00000482890.1	-	3	813	c.461A>G	c.(460-462)cAc>cGc	p.H154R	TFAP2A_ENST00000319516.4_Missense_Mutation_p.H150R|TFAP2A_ENST00000497266.1_5'UTR|TFAP2A_ENST00000379613.3_Missense_Mutation_p.H156R|TFAP2A_ENST00000379604.2_Missense_Mutation_p.H154R|TFAP2A_ENST00000379608.3_Missense_Mutation_p.H148R|TFAP2A-AS1_ENST00000420777.1_RNA			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	154					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)				CTCGATGGCGTGAGGTAAGGA	0.627																																																0													12	11	11					6																	10410153		2133	4187	6320	SO:0001583	missense	7020			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.461A>G	6.37:g.10410153T>C	ENSP00000418541:p.His154Arg		Q13777|Q5TAV5|Q8N1C6	Missense_Mutation	SNP	ENST00000482890.1	37	CCDS4510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.63|16.63	3.176652|3.176652	0.57692|0.57692	.|.	.|.	ENSG00000137203|ENSG00000137203	ENST00000379613;ENST00000379604;ENST00000319516;ENST00000379608;ENST00000482890;ENST00000466073|ENST00000475264	T;T;T;T;T;T|.	0.79940|.	-1.32;-1.32;-1.32;-1.32;-1.32;-1.32|.	5.06|5.06	5.06|5.06	0.68205|0.68205	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70343|0.70343	0.3213|0.3213	M|M	0.82716|0.82716	2.605|2.605	0.80722|0.80722	D|D	1|1	D;P;P;B;B;B;B|.	0.76494|.	0.999;0.483;0.825;0.444;0.22;0.22;0.194|.	D;B;B;B;B;B;B|.	0.78314|.	0.991;0.057;0.255;0.114;0.039;0.024;0.184|.	T|T	0.74241|0.74241	-0.3729|-0.3729	10|5	0.56958|.	D|.	0.05|.	-11.6671|-11.6671	13.6286|13.6286	0.62181|0.62181	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	156;154;154;156;150;154;148|.	Q96SH1;C1K3N0;P05549-2;Q96SH0;Q5TAV5;P05549;Q8N1C6|.	.;.;.;.;.;AP2A_HUMAN;.|.	R|A	156;154;150;148;154;154|59	ENSP00000368933:H156R;ENSP00000368924:H154R;ENSP00000316516:H150R;ENSP00000368928:H148R;ENSP00000418541:H154R;ENSP00000417495:H154R|.	ENSP00000316516:H150R|.	H|T	-|-	2|1	0|0	TFAP2A|TFAP2A	10518139|10518139	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	3.800000|3.800000	0.55537|0.55537	1.892000|1.892000	0.54788|0.54788	0.482000|0.482000	0.46254|0.46254	CAC|ACG		0.627	TFAP2A-007	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353619.2	NM_003220		C	10410153	T	C	10410153	3	2	702	1	0	0	0	0	1	0	0	0	15792	1696	59	3	876	3	TFAP2A	6	10410153	Missense_Mutation	SNP	T	TCGA-KL-8333-01A-11D-2310-10		10410153	160704914	18	39037											
GMPR	2766	ucsc.edu	37	6	16247121	16247121	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr6:16247121T>C	ENST00000259727.4	+	2	250	c.136T>C	c.(136-138)Tca>Cca	p.S46P		NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN	guanosine monophosphate reductase	46					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)				GCAGACCTACTCAGGGATTCC	0.473																																																0													141	128	132					6																	16247121		2203	4300	6503	SO:0001583	missense	2766				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.136T>C	6.37:g.16247121T>C	ENSP00000259727:p.Ser46Pro		Q96HQ6	Missense_Mutation	SNP	ENST00000259727.4	37	CCDS4537.1	.	.	.	.	.	.	.	.	.	.	T	16.80	3.222554	0.58668	.	.	ENSG00000137198	ENST00000259727	T	0.78924	-1.22	5.37	2.77	0.32553	Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);	0.298946	0.34435	N	0.003976	T	0.59985	0.2234	M	0.72894	2.215	0.43750	D	0.996253	B	0.09022	0.002	B	0.08055	0.003	T	0.60100	-0.7329	10	0.32370	T	0.25	-19.9677	9.3895	0.38363	0.5115:0.0:0.0:0.4885	.	46	P36959	GMPR1_HUMAN	P	46	ENSP00000259727:S46P	ENSP00000259727:S46P	S	+	1	0	GMPR	16355100	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.275000	0.58927	0.955000	0.37878	0.459000	0.35465	TCA		0.473	GMPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039942.2			C	16247121	T	C	16247121	3	2	702	1	0	0	0	0	1	0	0	0	6498	1551	54	3	142	3	GMPR	6	16247121	Missense_Mutation	SNP	T	TCGA-KL-8333-01A-11D-2310-10	5836968	16247121	154867946	19	39038											
LRRC1	55227	ucsc.edu	37	6	53660086	53660086	+	Missense_Mutation	SNP	A	A	G	rs201594887		TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr6:53660086A>G	ENST00000370888.1	+	1	309	c.32A>G	c.(31-33)aAc>aGc	p.N11S	RP13-476E20.1_ENST00000429053.1_RNA|LRRC1_ENST00000370882.1_Missense_Mutation_p.N11S	NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	11						cytoplasm (GO:0005737)|membrane (GO:0016020)				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		TGGCGGTGCAACCGTCATGTG	0.706																																																0													39	34	36					6																	53660086		2203	4300	6503	SO:0001583	missense	55227			AF332199	CCDS4953.2	6p12.2	2014-07-30	2003-11-19		ENSG00000137269	ENSG00000137269			14307	protein-coding gene	gene with protein product		608195	"leucine-rich repeat-containing 1"				Standard	NM_018214		Approved	dJ523E19.1, LANO, FLJ10775, FLJ11834	uc003pcd.1	Q9BTT6	OTTHUMG00000014885	ENST00000370888.1:c.32A>G	6.37:g.53660086A>G	ENSP00000359925:p.Asn11Ser		Q5TGN3|Q9HAC0|Q9NVF1	Missense_Mutation	SNP	ENST00000370888.1	37	CCDS4953.2	.	.	.	.	.	.	.	.	.	.	A	22.4	4.280390	0.80692	.	.	ENSG00000137269	ENST00000370888;ENST00000370882	T;T	0.50813	3.66;0.73	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.55337	0.1914	M	0.72118	2.19	0.58432	D	0.999999	D	0.63880	0.993	D	0.68192	0.956	T	0.56159	-0.8025	10	0.33940	T	0.23	.	13.2157	0.59859	1.0:0.0:0.0:0.0	.	11	Q9BTT6	LRRC1_HUMAN	S	11	ENSP00000359925:N11S;ENSP00000359919:N11S	ENSP00000359919:N11S	N	+	2	0	LRRC1	53768045	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.065000	0.89485	1.780000	0.52325	0.460000	0.39030	AAC		0.706	LRRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040970.2	NM_025168		G	53660086	A	G	53660086	3	3	702	1	0	0	0	0	1	0	0	0	8968	43	2	3	34	3	LRRC1	6	53660086	Missense_Mutation	SNP	A	TCGA-KL-8333-01A-11D-2310-10	37412965	53660086	117454981	20	39039											
KIAA1009	22832	broad.mit.edu	37	6	84884491	84884491	+	Silent	SNP	T	T	C			TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr6:84884491T>C	ENST00000403245.3	-	15	2094	c.1980A>G	c.(1978-1980)aaA>aaG	p.K660K	KIAA1009_ENST00000257766.4_Silent_p.K584K|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)		TGAAGAGTTCTTTTTCCTGTT	0.303																																																0													63	57	59					6																	84884491		2202	4296	6498	SO:0001819	synonymous_variant	22832																														ENST00000403245.3:c.1980A>G	6.37:g.84884491T>C				Silent	SNP	ENST00000403245.3	37	CCDS34494.2																																																																																				0.303	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317315.1			C	84884491	T	C	84884491	2	2	702	1	0	0	0	0	0	0	0	1	8205	1606	56	3		3	KIAA1009	6	84884491	Silent	SNP	T	TCGA-KL-8333-01A-11D-2310-10	31224405	84884491	86230576	21	39040											
TAGAP	117289	ucsc.edu	37	6	159456931	159456931	+	Silent	SNP	A	A	G			TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr6:159456931A>G	ENST00000367066.3	-	10	2455	c.2124T>C	c.(2122-2124)tgT>tgC	p.C708C	TAGAP_ENST00000326965.6_Silent_p.C530C|RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	708					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)		GTCGCACGAGACAGTCCCGCT	0.577																																																0													71	65	67					6																	159456931		2203	4300	6503	SO:0001819	synonymous_variant	117289			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.2124T>C	6.37:g.159456931A>G			Q2NKM8|Q8NI40|Q96KZ2|Q96QA2	Silent	SNP	ENST00000367066.3	37	CCDS5261.1																																																																																				0.577	TAGAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042890.1	NM_054114		G	159456931	A	G	159456931	2	3	702	1	0	0	0	0	0	0	0	1	15542	273	10	3		3	TAGAP	6	159456931	Silent	SNP	A	TCGA-KL-8333-01A-11D-2310-10	74572440	159456931	11658136	22	39041											
STK31	56164	broad.mit.edu	37	7	23825129	23825129	+	Silent	SNP	A	A	G			TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr7:23825129A>G	ENST00000355870.3	+	18	2300	c.2181A>G	c.(2179-2181)gaA>gaG	p.E727E	STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Silent_p.E704E|STK31_ENST00000433467.2_Silent_p.E727E|STK31_ENST00000354639.3_Silent_p.E704E	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	727	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						TGAGCTTGGAACGAGATCTTC	0.403																																																0													198	188	191					7																	23825129		2203	4300	6503	SO:0001819	synonymous_variant	56164			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.2181A>G	7.37:g.23825129A>G			B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Silent	SNP	ENST00000355870.3	37	CCDS5386.1																																																																																				0.403	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		G	23825129	A	G	23825129	2	3	702	1	0	0	0	0	0	0	0	1	15301	40	2	3		3	STK31	7	23825129	Silent	SNP	A	TCGA-KL-8333-01A-11D-2310-10		23825129	135313534	23	39042											
LIMK1	3984	broad.mit.edu	37	7	73535525	73535526	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr7:73535525_73535526insC	ENST00000336180.2	+	16	1889_1890	c.1838_1839insC	c.(1837-1842)ggccacfs	p.H614fs	LIMK1_ENST00000418310.1_Frame_Shift_Ins_p.H644fs|LIMK1_ENST00000538333.3_Frame_Shift_Ins_p.H580fs	NM_002314.3	NP_002305.1	P53667	LIMK1_HUMAN	LIM domain kinase 1	614					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)	CACCTGGCCGGCCACCTGCCAC	0.683																																																0																																										SO:0001589	frameshift_variant	3984			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.1840dupC	7.37:g.73535527_73535527dupC	ENSP00000336740:p.His614fs		B7Z6I8|D3DXF4|D3DXF5|O15283|Q15820|Q15821|Q75MU3|Q9Y5Q1	Frame_Shift_Ins	INS	ENST00000336180.2	37	CCDS5563.1																																																																																				0.683	LIMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252335.2	NM_002314		C	73535526	-	C	73535525	7	5	702	1	0	1	1	0	0	0	0	0	8803	1203	42	0	1900	0	LIMK1	7	73535525	Frame_Shift_Ins	INS	-	TCGA-KL-8333-01A-11D-2310-10	49710396	73535525	85603138	24	39043											
MLL3	58508	bcgsc.ca	37	7	151962265	151962265	+	Missense_Mutation	SNP	C	C	T	rs201834857		TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr7:151962265C>T	ENST00000262189.6	-	8	1260	c.1042G>A	c.(1042-1044)Gac>Aac	p.D348N	KMT2C_ENST00000355193.2_Missense_Mutation_p.D348N	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	348					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.D348N(2)									CCCGGGCTGTCGCACACTGCA	0.383																																																2	Substitution - Missense(2)	skin(2)											112	101	104					7																	151962265		2203	4296	6499	SO:0001583	missense	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1042G>A	7.37:g.151962265C>T	ENSP00000262189:p.Asp348Asn		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.730606	0.48939	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.98807	-5.15;-5.15	4.65	4.65	0.58169	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, PHD-type (1);Protein kinase C-like, phorbol ester/diacylglycerol binding (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.43919	U	0.000512	D	0.98516	0.9505	L	0.47716	1.5	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.98479	1.0604	10	0.23302	T	0.38	.	17.9157	0.88950	0.0:1.0:0.0:0.0	.	348	Q8NEZ4	MLL3_HUMAN	N	348	ENSP00000262189:D348N;ENSP00000347325:D348N	ENSP00000262189:D348N	D	-	1	0	MLL3	151593198	1.000000	0.71417	1.000000	0.80357	0.048000	0.14542	7.772000	0.85439	2.271000	0.75665	0.557000	0.71058	GAC		0.383	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			T	151962265	C	T	151962265	3	4	702	1	0	0	0	0	1	0	0	0	9624	884	31	1	13901	1	MLL3	7	151962265	Missense_Mutation	SNP	C	TCGA-KL-8333-01A-11D-2310-10	78426740	151962265	7176398	25	39044											
PHYHIP	9796	broad.mit.edu	37	8	22079280	22079280	+	Silent	SNP	G	G	T			TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr8:22079280G>T	ENST00000321613.3	-	6	1035	c.579C>A	c.(577-579)ggC>ggA	p.G193G	PHYHIP_ENST00000454243.2_Silent_p.G193G	NM_001099335.1	NP_001092805.1	Q92561	PHYIP_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein	193										endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)		GCGGGGGCTGGCCCGTGTTGA	0.622																																																0													16	22	20					8																	22079280		1977	4149	6126	SO:0001819	synonymous_variant	9796			D87463	CCDS43723.1	8p21.2	2010-02-17	2006-01-09		ENSG00000168490	ENSG00000168490			16865	protein-coding gene	gene with protein product		608511	"phytanoyl-CoA hydroxylase interacting protein", "DYRK1A interacting protein 3"	DYRK1AP3		9039502, 10686344	Standard	NM_014759		Approved	KIAA0273, PAHX-AP	uc003xbj.4	Q92561	OTTHUMG00000163776	ENST00000321613.3:c.579C>A	8.37:g.22079280G>T			D3DSR1|Q8N4I9	Silent	SNP	ENST00000321613.3	37	CCDS43723.1																																																																																				0.622	PHYHIP-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375388.1	NM_014759		T	22079280	G	T	22079280	2	4	702	1	0	0	0	0	0	0	0	1	11868	1190	42	4		4	PHYHIP	8	22079280	Silent	SNP	G	TCGA-KL-8333-01A-11D-2310-10		22079280	124284742	26	39045											
ABRA	137735	broad.mit.edu	37	8	107773293	107773293	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr8:107773293T>C	ENST00000311955.3	-	2	1172	c.1118A>G	c.(1117-1119)gAc>gGc	p.D373G		NM_139166.4	NP_631905.1			actin-binding Rho activating protein											breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			CACAACATGGTCATCTCGGCC	0.418																																																0													208	191	197					8																	107773293		2203	4300	6503	SO:0001583	missense	137735			AF503617	CCDS6305.1	8q23.1	2012-02-06			ENSG00000174429	ENSG00000174429			30655	protein-coding gene	gene with protein product	"striated muscle activator of Rho-dependent signaling"	609747				11983702	Standard	NM_139166		Approved	STARS	uc003ymm.4	Q8N0Z2	OTTHUMG00000164809	ENST00000311955.3:c.1118A>G	8.37:g.107773293T>C	ENSP00000311436:p.Asp373Gly			Missense_Mutation	SNP	ENST00000311955.3	37	CCDS6305.1	.	.	.	.	.	.	.	.	.	.	T	26.7	4.766493	0.90020	.	.	ENSG00000174429	ENST00000311955	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.86053	0.5841	M	0.92459	3.31	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89491	0.3757	9	0.87932	D	0	-0.5928	16.0752	0.80965	0.0:0.0:0.0:1.0	.	373	Q8N0Z2	ABRA_HUMAN	G	373	.	ENSP00000311436:D373G	D	-	2	0	ABRA	107842469	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.036000	0.88901	2.180000	0.69256	0.528000	0.53228	GAC		0.418	ABRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380416.1	NM_139166		C	107773293	T	C	107773293	3	2	702	1	0	0	0	0	1	0	0	0	100	1667	58	3	31	3	ABRA	8	107773293	Missense_Mutation	SNP	T	TCGA-KL-8333-01A-11D-2310-10	85694013	107773293	38590729	27	39046											
FER1L6	654463	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	8	125074107	125074107	+	Silent	SNP	C	C	T			TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr8:125074107C>T	ENST00000522917.1	+	25	3368	c.3162C>T	c.(3160-3162)aaC>aaT	p.N1054N	FER1L6_ENST00000399018.1_Silent_p.N1054N|FER1L6-AS2_ENST00000601180.1_RNA|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1054	C2 4. {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)			TGCCTGAGAACGAGCTTCTGC	0.572																																																0													71	73	72					8																	125074107		1999	4196	6195	SO:0001819	synonymous_variant	654463			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.3162C>T	8.37:g.125074107C>T				Silent	SNP	ENST00000522917.1	37	CCDS43767.1																																																																																				0.572	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		T	125074107	C	T	125074107	2	4	702	1	0	0	0	0	0	0	0	1	5817	535	19	1		1	FER1L6	8	125074107	Silent	SNP	C	TCGA-KL-8333-01A-11D-2310-10	17300814	125074107	21289915	28	39047											
NUP214	8021	bcgsc.ca	37	9	134074387	134074387	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr9:134074387T>C	ENST00000359428.5	+	29	5650	c.5506T>C	c.(5506-5508)Ttt>Ctt	p.F1836L	NUP214_ENST00000451030.1_Missense_Mutation_p.F1837L|NUP214_ENST00000483497.2_Missense_Mutation_p.F662L|NUP214_ENST00000411637.2_Missense_Mutation_p.F1826L			P35658	NU214_HUMAN	nucleoporin 214kDa	1836	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|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)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TGGGTTCAGCTTTTGCCAAGC	0.468			T	"DEK, SET, ABL1"	"AML, T-ALL"																																Pancreas(4;24 48 25510 30394 32571)		Dom	yes		9	9q34.1	8021	nucleoporin 214kDa (CAN)		L	0													50	57	54					9																	134074387		2203	4300	6503	SO:0001583	missense	8021			X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"nuclear pore complex protein Nup214", "CAN protein, putative oncogene"	114350	"nucleoporin 214kD (CAIN)"			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.5506T>C	9.37:g.134074387T>C	ENSP00000352400:p.Phe1836Leu		A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	ENST00000359428.5	37	CCDS6940.1	.	.	.	.	.	.	.	.	.	.	T	27.4	4.831854	0.91036	.	.	ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375;ENST00000540899;ENST00000438605;ENST00000483497	T;T;T;T	0.62788	-0.0;0.04;-0.0;0.17	6.07	6.07	0.98685	.	0.000000	0.45361	D	0.000373	T	0.62539	0.2436	N	0.08118	0	0.80722	D	1	D;D;D;D;D	0.61697	0.99;0.99;0.99;0.99;0.99	D;D;D;D;D	0.72982	0.979;0.979;0.979;0.979;0.979	T	0.68334	-0.5436	10	0.44086	T	0.13	-22.7254	15.4756	0.75478	0.0:0.0:0.0:1.0	.	662;1265;1430;1826;1836	B7ZAV2;F5H131;Q5JUP9;P35658-4;P35658	.;.;.;.;NU214_HUMAN	L	1836;1826;1837;1815;1430;1265;662	ENSP00000352400:F1836L;ENSP00000396576:F1826L;ENSP00000405014:F1837L;ENSP00000436793:F662L	ENSP00000352400:F1836L	F	+	1	0	NUP214	133064208	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	6.810000	0.75216	2.326000	0.78906	0.533000	0.62120	TTT		0.468	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		C	134074387	T	C	134074387	3	2	702	1	0	0	0	0	1	0	0	0	10764	1609	56	3	5620	3	NUP214	9	134074387	Missense_Mutation	SNP	T	TCGA-KL-8333-01A-11D-2310-10		134074387	7139044	29	39048											
SH3PXD2A	9644	mdanderson.org;bcgsc.ca	37	10	105362429	105362429	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr10:105362429C>T	ENST00000369774.4	-	15	2822	c.2546G>A	c.(2545-2547)aGc>aAc	p.S849N	SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.S716N|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.S684N|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.S821N			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	849	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)	p.S821T(1)		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)		CTGGTAGGCGCTGCATGTCAT	0.612																																																1	Substitution - Missense(1)	lung(1)											70	69	69					10																	105362429		2203	4300	6503	SO:0001583	missense	9644			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.2546G>A	10.37:g.105362429C>T	ENSP00000358789:p.Ser849Asn		D3DR98|O43302|Q5TCZ2|Q5TDQ8	Missense_Mutation	SNP	ENST00000369774.4	37		.	.	.	.	.	.	.	.	.	.	C	8.102	0.776833	0.16120	.	.	ENSG00000107957	ENST00000369774;ENST00000355946;ENST00000315994;ENST00000536035;ENST00000540321;ENST00000538130	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	4.83	3.8	0.43715	Src homology-3 domain (2);	0.323099	0.37715	N	0.001971	T	0.22551	0.0544	L	0.38838	1.175	0.09310	N	0.999992	B;B;B;B	0.32302	0.201;0.309;0.363;0.167	B;B;B;B	0.37601	0.197;0.197;0.254;0.124	T	0.09574	-1.0668	10	0.25106	T	0.35	-19.0441	5.7598	0.18192	0.0:0.7468:0.0:0.2532	.	849;698;694;821	Q5TCZ1;B7Z9L8;B7Z3B0;Q5TCZ1-3	SPD2A_HUMAN;.;.;.	N	849;821;656;764;716;684	ENSP00000358789:S849N;ENSP00000348215:S821N;ENSP00000443663:S716N;ENSP00000441514:S684N	ENSP00000318135:S656N	S	-	2	0	SH3PXD2A	105352419	1.000000	0.71417	0.045000	0.18777	0.479000	0.33129	4.107000	0.57811	2.255000	0.74692	0.555000	0.69702	AGC		0.612	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	NM_014631		T	105362429	C	T	105362429	3	4	702	1	0	0	0	0	1	0	0	0	14262	797	28	2	859	2	SH3PXD2A	10	105362429	Missense_Mutation	SNP	C	TCGA-KL-8333-01A-11D-2310-10		105362429	30172318	30	39049											
PRKCDBP	112464	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	11	6341681	6341681	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr11:6341681C>T	ENST00000303927.3	-	1	196	c.26G>A	c.(25-27)gGg>gAg	p.G9E	PRKCDBP_ENST00000530979.1_Missense_Mutation_p.G9E	NM_145040.2	NP_659477.2	Q969G5	PRDBP_HUMAN	protein kinase C, delta binding protein	9					cortical actin cytoskeleton organization (GO:0030866)|negative regulation of fermentation (GO:1901003)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	caveola (GO:0005901)|protein complex (GO:0043234)				large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		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)		GGGCACAGGCCCCCGCTCCAA	0.701																																																0													10	11	11					11																	6341681		2131	4149	6280	SO:0001583	missense	112464			AF339881	CCDS7762.1	11p15.4	2011-04-20			ENSG00000170955	ENSG00000170955			9400	protein-coding gene	gene with protein product	"sdr-related gene product that binds to c-kinase"					9054438	Standard	NM_145040		Approved	SRBC, HSRBC, MGC20400, cavin-3, CAVIN3	uc001mcu.1	Q969G5	OTTHUMG00000133378	ENST00000303927.3:c.26G>A	11.37:g.6341681C>T	ENSP00000307292:p.Gly9Glu			Missense_Mutation	SNP	ENST00000303927.3	37	CCDS7762.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.102811	0.76983	.	.	ENSG00000170955	ENST00000303927;ENST00000530979	T;T	0.55413	0.52;1.54	5.03	3.07	0.35406	.	0.516908	0.19338	N	0.116703	T	0.29491	0.0735	N	0.08118	0	0.28687	N	0.904783	B	0.16802	0.019	B	0.23419	0.046	T	0.11842	-1.0571	10	0.62326	D	0.03	-17.3016	6.1205	0.20150	0.0:0.7081:0.1916:0.1004	.	9	Q969G5	PRDBP_HUMAN	E	9	ENSP00000307292:G9E;ENSP00000432047:G9E	ENSP00000307292:G9E	G	-	2	0	PRKCDBP	6298257	0.452000	0.25713	0.994000	0.49952	0.910000	0.53928	0.800000	0.27042	2.613000	0.88420	0.655000	0.94253	GGG		0.701	PRKCDBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257228.2	NM_145040		T	6341681	C	T	6341681	3	4	702	1	0	0	0	0	1	0	0	0	12515	623	22	2	767	2	PRKCDBP	11	6341681	Missense_Mutation	SNP	C	TCGA-KL-8333-01A-11D-2310-10		6341681	128664835	31	39050											
CAPN5	726	broad.mit.edu	37	11	76804733	76804733	+	Silent	SNP	C	C	T			TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr11:76804733C>T	ENST00000278559.3	+	3	360	c.171C>T	c.(169-171)atC>atT	p.I57I	CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Silent_p.I57I|CAPN5_ENST00000456580.2_Silent_p.I97I	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	57	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						CGCAGGGCATCTGCGAGGACC	0.637																																																0													38	30	33					11																	76804733		2196	4289	6485	SO:0001819	synonymous_variant	726				CCDS8248.1	11q14	2014-01-29				ENSG00000149260			1482	protein-coding gene	gene with protein product		602537	"vitreoretinopathy, neovascular inflammatory"	VRNI		9503024, 9367857, 23055945	Standard	NM_004055		Approved	nCL-3, HTRA3, ADNIV	uc001oxx.3	O15484		ENST00000278559.3:c.171C>T	11.37:g.76804733C>T			O00263	Silent	SNP	ENST00000278559.3	37	CCDS8248.1																																																																																				0.637	CAPN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382564.2	NM_004055		T	76804733	C	T	76804733	2	4	702	1	0	0	0	0	0	0	0	1	2631	903	32	2		2	CAPN5	11	76804733	Silent	SNP	C	TCGA-KL-8333-01A-11D-2310-10	70463052	76804733	58201783	32	39051											
MRE11A	4361	bcgsc.ca	37	11	94211961	94211961	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr11:94211961T>C	ENST00000323929.3	-	6	706	c.484A>G	c.(484-486)Ata>Gta	p.I162V	MRE11A_ENST00000323977.3_Missense_Mutation_p.I162V|MRE11A_ENST00000407439.3_Missense_Mutation_p.I165V|MRE11A_ENST00000540013.1_Missense_Mutation_p.I162V|MRE11A_ENST00000393241.4_Missense_Mutation_p.I162V	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	162					base-excision repair (GO:0006284)|cell proliferation (GO:0008283)|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)|double-strand break repair via nonhomologous end joining (GO:0006303)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of DNA endoreduplication (GO:0032876)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of type I interferon production (GO:0032481)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|sister chromatid cohesion (GO:0007062)|synapsis (GO:0007129)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromatin (GO:0000785)|cytosol (GO:0005829)|Mre11 complex (GO:0030870)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|protein C-terminus binding (GO:0008022)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				CTAATGTCTATCTTCTCCACA	0.363								Homologous recombination	Ataxia-Telangiectasia-Like Disorder																																							0													97	88	91					11																	94211961		2201	4298	6499	SO:0001583	missense	4361	Familial Cancer Database	ATLD	BC063458	CCDS8298.1, CCDS8299.1	11q21	2014-09-17	2001-11-28		ENSG00000020922	ENSG00000020922			7230	protein-coding gene	gene with protein product	"AT-like disease"	600814	"meiotic recombination (S. cerevisiae) 11 homolog A"	MRE11		8530104	Standard	XM_005274007		Approved	ATLD	uc001peu.2	P49959	OTTHUMG00000167780	ENST00000323929.3:c.484A>G	11.37:g.94211961T>C	ENSP00000325863:p.Ile162Val		O43475	Missense_Mutation	SNP	ENST00000323929.3	37	CCDS8299.1	.	.	.	.	.	.	.	.	.	.	T	12.05	1.822393	0.32237	.	.	ENSG00000020922	ENST00000323929;ENST00000407439;ENST00000323977;ENST00000393241;ENST00000540013	D;D;D;D;D	0.81499	-1.5;-1.5;-1.5;-1.5;-1.5	5.54	2.0	0.26442	Metallophosphoesterase domain (1);	0.125962	0.64402	N	0.000001	T	0.69433	0.3110	L	0.31926	0.97	0.45979	D	0.998794	B;B;B	0.15473	0.007;0.002;0.013	B;B;B	0.26517	0.07;0.021;0.043	T	0.57394	-0.7819	10	0.34782	T	0.22	-16.6202	8.7495	0.34607	0.0:0.2208:0.0:0.7792	.	165;162;162	B3KTC7;P49959-2;P49959	.;.;MRE11_HUMAN	V	162;165;162;162;162	ENSP00000325863:I162V;ENSP00000385614:I165V;ENSP00000326094:I162V;ENSP00000376933:I162V;ENSP00000440986:I162V	ENSP00000325863:I162V	I	-	1	0	MRE11A	93851609	1.000000	0.71417	0.999000	0.59377	0.492000	0.33523	2.694000	0.47035	0.089000	0.17243	0.372000	0.22366	ATA		0.363	MRE11A-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396237.3	NM_005591		C	94211961	T	C	94211961	3	2	702	1	0	0	0	0	1	0	0	0	9761	1435	50	3	1702	3	MRE11A	11	94211961	Missense_Mutation	SNP	T	TCGA-KL-8333-01A-11D-2310-10	17407228	94211961	40794555	33	39052											
ADAMTS15	170689	bcgsc.ca	37	11	130332482	130332501	+	Frame_Shift_Del	DEL	CTGGCTTTTGGCGTGGGCTC	CTGGCTTTTGGCGTGGGCTC	-	rs535808287|rs146615969		TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	CTGGCTTTTGGCGTGGGCTC	CTGGCTTTTGGCGTGGGCTC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr11:130332482_130332501delCTGGCTTTTGGCGTGGGCTC	ENST00000299164.2	+	4	1349_1368	c.1349_1368delCTGGCTTTTGGCGTGGGCTC	c.(1348-1368)cctggcttttggcgtgggctcfs	p.PGFWRGL450fs		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	450	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)		CAGTGCGAGCTGGCTTTTGGCGTGGGCTCCAAGCCCTGTC	0.645																																																0																																										SO:0001589	frameshift_variant	170689			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.1349_1368delCTGGCTTTTGGCGTGGGCTC	11.37:g.130332482_130332501delCTGGCTTTTGGCGTGGGCTC	ENSP00000299164:p.Pro450fs		Q32MI6	Frame_Shift_Del	DEL	ENST00000299164.2	37	CCDS8488.1																																																																																				0.645	ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385638.1	NM_139055		-	130332501	CTGGCTTTTGGCGTGGGCTC	-	130332482	7	5	702	1	0	1	0	1	0	0	0	0	260	1580	55	0	1363	0	ADAMTS15	11	130332482	Frame_Shift_Del	DEL	CTGGCTTTTGGCGTGGGCTC	TCGA-KL-8333-01A-11D-2310-10	36120521	130332482	4674034	34	39053											
PRB2	653247	mdanderson.org	37	12	11546616	11546616	+	Silent	SNP	A	A	G	rs199923047		TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr12:11546616A>G	ENST00000389362.4	-	3	431	c.396T>C	c.(394-396)ccT>ccC	p.P132P	PRB2_ENST00000545829.1_5'Flank|PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	132	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GAGGAGGTGGAGGACCTTGAG	0.607																																																0													292	264	273					12																	11546616		2201	4300	6501	SO:0001819	synonymous_variant	653247			K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.396T>C	12.37:g.11546616A>G			O00599|P02811|P04281	Silent	SNP	ENST00000389362.4	37	CCDS41757.2																																																																																				0.607	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		G	11546616	A	G	11546616	2	3	702	1	0	0	0	0	0	0	0	1	12448	291	11	3		3	PRB2	12	11546616	Silent	SNP	A	TCGA-KL-8333-01A-11D-2310-10		11546616	122305279	35	39054											
PPFIA2	8499	ucsc.edu	37	12	81719630	81719630	+	Silent	SNP	T	T	C			TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr12:81719630T>C	ENST00000549396.1	-	22	2728	c.2568A>G	c.(2566-2568)gaA>gaG	p.E856E	PPFIA2_ENST00000443686.3_Silent_p.E757E|PPFIA2_ENST00000550359.2_Silent_p.E703E|PPFIA2_ENST00000552948.1_Silent_p.E856E|PPFIA2_ENST00000550584.2_Silent_p.E856E|PPFIA2_ENST00000333447.7_Silent_p.E838E|PPFIA2_ENST00000549325.1_Silent_p.E838E|PPFIA2_ENST00000407050.4_Silent_p.E782E|PPFIA2_ENST00000541017.1_Silent_p.E73E|PPFIA2_ENST00000541570.2_Silent_p.E423E|PPFIA2_ENST00000548586.1_Silent_p.E856E|PPFIA2_ENST00000545296.2_Intron	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	856					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						GAGCTGCAGCTTCAGTCTCCA	0.423																																																0													69	70	70					12																	81719630		1866	4107	5973	SO:0001819	synonymous_variant	8499			AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"Sterile alpha motif (SAM) domain containing"	9246	protein-coding gene	gene with protein product	"Liprin-alpha2"	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.2568A>G	12.37:g.81719630T>C			B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Silent	SNP	ENST00000549396.1	37	CCDS55857.1	.	.	.	.	.	.	.	.	.	.	T	8.987	0.976775	0.18812	.	.	ENSG00000139220	ENST00000551147	.	.	.	5.83	4.69	0.59074	.	.	.	.	.	T	0.56062	0.1960	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53180	-0.8475	4	.	.	.	-17.7436	6.288	0.21043	0.141:0.0759:0.0:0.7831	.	.	.	.	G	19	.	.	S	-	1	0	PPFIA2	80243761	0.997000	0.39634	1.000000	0.80357	0.931000	0.56810	0.367000	0.20382	1.030000	0.39839	0.477000	0.44152	AGC		0.423	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			C	81719630	T	C	81719630	2	2	702	1	0	0	0	0	0	0	0	1	12312	1606	56	3		3	PPFIA2	12	81719630	Silent	SNP	T	TCGA-KL-8333-01A-11D-2310-10	70173014	81719630	52132265	36	39055											
RILPL1	353116	broad.mit.edu	37	12	123957223	123957223	+	Missense_Mutation	SNP	G	G	T			TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr12:123957223G>T	ENST00000376874.4	-	7	1309	c.1074C>A	c.(1072-1074)agC>agA	p.S358R	RILPL1_ENST00000544468.1_Missense_Mutation_p.S31R|SNRNP35_ENST00000527158.2_3'UTR|RILPL1_ENST00000340724.6_Missense_Mutation_p.S238R	NM_178314.3	NP_847884.2	Q5EBL4	RIPL1_HUMAN	Rab interacting lysosomal protein-like 1	358					epithelial cell morphogenesis (GO:0003382)|intracellular protein transport (GO:0006886)|regulation of neuron death (GO:1901214)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)		p.S358R(3)		endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197)		GGGAGAAGAAGCTAAACCTTT	0.498																																																3	Substitution - Missense(3)	kidney(2)|endometrium(1)											65	63	63					12																	123957223		1944	4154	6098	SO:0001583	missense	353116			AK097550	CCDS45006.1	12q24.31	2007-11-27			ENSG00000188026	ENSG00000188026			26814	protein-coding gene	gene with protein product		614092				14668488	Standard	NM_178314		Approved	FLJ39378	uc001ufe.2	Q5EBL4	OTTHUMG00000168686	ENST00000376874.4:c.1074C>A	12.37:g.123957223G>T	ENSP00000366070:p.Ser358Arg		Q66K36|Q8N1M0	Missense_Mutation	SNP	ENST00000376874.4	37	CCDS45006.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.028945	0.75504	.	.	ENSG00000188026	ENST00000376874;ENST00000340724;ENST00000544468	T;T;T	0.27720	1.65;1.65;1.65	5.47	4.47	0.54385	.	.	.	.	.	T	0.37892	0.1020	L	0.29908	0.895	0.51767	D	0.999936	D;D	0.89917	1.0;0.997	D;D	0.85130	0.997;0.991	T	0.11717	-1.0576	9	0.49607	T	0.09	-0.9352	6.5327	0.22336	0.2105:0.0:0.7895:0.0	.	358;207	Q5EBL4;Q5EBL4-3	RIPL1_HUMAN;.	R	358;238;31	ENSP00000366070:S358R;ENSP00000345874:S238R;ENSP00000442991:S31R	ENSP00000345874:S238R	S	-	3	2	RILPL1	122523176	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.403000	0.44530	2.566000	0.86566	0.655000	0.94253	AGC		0.498	RILPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400595.1	NM_178314		T	123957223	G	T	123957223	3	4	702	1	0	0	0	0	1	0	0	0	13367	962	34	4	141	4	RILPL1	12	123957223	Missense_Mutation	SNP	G	TCGA-KL-8333-01A-11D-2310-10	42237593	123957223	9894672	37	39056											
TPTE2	93492	mdanderson.org	37	13	20000609	20000609	+	Missense_Mutation	SNP	C	C	T	rs141691551	byFrequency	TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr13:20000609C>T	ENST00000400230.2	-	18	1395	c.1351G>A	c.(1351-1353)Ggt>Agt	p.G451S	TPTE2_ENST00000382975.4_Missense_Mutation_p.G411S|TPTE2_ENST00000255310.6_Missense_Mutation_p.G374S|TPTE2_ENST00000382978.1_Missense_Mutation_p.G411S|TPTE2_ENST00000390680.2_Missense_Mutation_p.G374S|TPTE2_ENST00000400103.2_Missense_Mutation_p.G340S|TPTE2_ENST00000382977.4_Missense_Mutation_p.G451S|TPTE2_ENST00000457266.2_Missense_Mutation_p.G340S			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	451	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				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)	p.G451S(1)|p.G374R(1)|p.G374S(1)|p.G451R(1)		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)		AGAGGTGGACCGTCATATACA	0.338													c|||	18	0.00359425	0.0129	0.0014	5008	,	,		17308	0.0		0.0	False		,,,				2504	0.0															4	Substitution - Missense(4)	prostate(2)|lung(2)						C	SER/GLY,SER/GLY,SER/GLY	59,4347	53.6+/-89.4	0,59,2144	115	115	115		1018,1120,1351	0.8	0	13	dbSNP_134	115	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	TPTE2	NM_001141968.1,NM_130785.3,NM_199254.2	56,56,56	0,60,6443	TT,TC,CC		0.0116,1.3391,0.4613	benign,benign,benign	340/412,374/446,451/523	20000609	60,12946	2203	4300	6503	SO:0001583	missense	93492			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.1351G>A	13.37:g.20000609C>T	ENSP00000383089:p.Gly451Ser		A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	CCDS45014.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	c	2.177	-0.388580	0.04932	0.013391	1.16E-4	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548	D;D;D;D;D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91;-1.91;-1.91;-1.91;-1.91	2.06	0.84	0.18912	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.174692	0.50627	D	0.000101	T	0.56673	0.2001	N	0.12746	0.255	0.09310	N	1	B;B;B	0.32829	0.124;0.101;0.386	B;B;B	0.29524	0.064;0.024;0.103	T	0.51803	-0.8659	9	.	.	.	-15.6776	4.9604	0.14063	0.6673:0.3327:0.0:0.0	.	340;374;451	A8MX64;Q6XPS3-3;Q6XPS3	.;.;TPTE2_HUMAN	S	411;340;451;374;374;451;411;340;451	ENSP00000372438:G411S;ENSP00000382974:G340S;ENSP00000383089:G451S;ENSP00000255310:G374S;ENSP00000375098:G374S;ENSP00000372437:G451S;ENSP00000372435:G411S;ENSP00000442218:G340S	.	G	-	1	0	TPTE2	18898609	0.779000	0.28652	0.004000	0.12327	0.004000	0.04260	1.504000	0.35726	0.231000	0.21079	0.194000	0.17425	GGT		0.338	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		T	20000609	C	T	20000609	3	4	702	1	0	0	0	0	1	0	0	0	16436	652	23	1	229	1	TPTE2	13	20000609	Missense_Mutation	SNP	C	TCGA-KL-8333-01A-11D-2310-10		20000609	95169269	38	39057											
ZMYM5	9205	broad.mit.edu	37	13	20426257	20426257	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr13:20426257T>C	ENST00000337963.4	-	3	328	c.64A>G	c.(64-66)Atg>Gtg	p.M22V	ZMYM5_ENST00000382907.4_Missense_Mutation_p.M22V|ZMYM5_ENST00000382905.4_Missense_Mutation_p.M22V	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	22						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		GCCATGGCCATATTCCCTAAT	0.413																																																0													205	205	205					13																	20426257		2203	4300	6503	SO:0001583	missense	9205			AF161535	CCDS31942.1, CCDS31943.1	13q12	2013-01-08	2005-09-12	2005-09-12	ENSG00000132950	ENSG00000132950		"Zinc fingers, MYM type"	13029	protein-coding gene	gene with protein product			"zinc finger protein 237"	ZNF237			Standard	NM_001039650		Approved	ZNF198L1, MYM	uc010tcn.1	Q9UJ78	OTTHUMG00000016504	ENST00000337963.4:c.64A>G	13.37:g.20426257T>C	ENSP00000337034:p.Met22Val		B2R6V1|Q5T6E1|Q5T6E2|Q5T6E4|Q96IY6|Q9NZY5|Q9UBW0|Q9UJ77	Missense_Mutation	SNP	ENST00000337963.4	37		.	.	.	.	.	.	.	.	.	.	T	0.574	-0.839877	0.02692	.	.	ENSG00000132950	ENST00000337963;ENST00000502168;ENST00000382907;ENST00000382905	T;T;T;T	0.27256	1.68;1.68;1.68;1.68	4.49	0.351	0.16042	.	.	.	.	.	T	0.15046	0.0363	N	0.22421	0.69	0.09310	N	1	B;B;B	0.09022	0.0;0.001;0.002	B;B;B	0.04013	0.001;0.0;0.0	T	0.23762	-1.0179	9	0.52906	T	0.07	2.6265	5.3146	0.15849	0.2807:0.0774:0.0:0.6419	.	22;22;22	Q9UJ78;Q9UJ78-2;Q9UJ78-1	ZMYM5_HUMAN;.;.	V	22;12;22;22	ENSP00000337034:M22V;ENSP00000445779:M12V;ENSP00000372364:M22V;ENSP00000372361:M22V	ENSP00000337034:M22V	M	-	1	0	ZMYM5	19324257	0.013000	0.17824	0.001000	0.08648	0.008000	0.06430	0.632000	0.24583	-0.006000	0.14370	0.459000	0.35465	ATG		0.413	ZMYM5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014242		C	20426257	T	C	20426257	3	2	702	1	0	0	0	0	1	0	0	0	17708	1406	49	3	2080	3	ZMYM5	13	20426257	Missense_Mutation	SNP	T	TCGA-KL-8333-01A-11D-2310-10	425648	20426257	94743621	39	39058											
KCNK10	54207	broad.mit.edu	37	14	88652217	88652217	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr14:88652217C>T	ENST00000340700.5	-	7	1730	c.1279G>A	c.(1279-1281)Ggg>Agg	p.G427R	KCNK10_ENST00000312350.5_Missense_Mutation_p.G432R|KCNK10_ENST00000319231.5_Missense_Mutation_p.G432R	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	427					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						TGCTCCGGCCCCTTCAGGCGC	0.597																																																0													70	73	72					14																	88652217		2203	4300	6503	SO:0001583	missense	54207			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.1279G>A	14.37:g.88652217C>T	ENSP00000343104:p.Gly427Arg		B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Missense_Mutation	SNP	ENST00000340700.5	37	CCDS9880.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.785026	0.49997	.	.	ENSG00000100433	ENST00000340700;ENST00000312350;ENST00000319231	D;D;D	0.92805	-3.1;-3.11;-3.08	5.71	5.71	0.89125	.	0.463750	0.25138	N	0.032841	D	0.89646	0.6775	N	0.08118	0	0.80722	D	1	P;P;P	0.52577	0.89;0.745;0.954	P;B;P	0.53450	0.521;0.277;0.726	D	0.91751	0.5412	10	0.66056	D	0.02	.	18.8558	0.92251	0.0:1.0:0.0:0.0	.	427;432;432	P57789;B2R8T4;Q6B014	KCNKA_HUMAN;.;.	R	427;432;432	ENSP00000343104:G427R;ENSP00000310568:G432R;ENSP00000312811:G432R	ENSP00000310568:G432R	G	-	1	0	KCNK10	87721970	1.000000	0.71417	0.352000	0.25734	0.037000	0.13140	5.529000	0.67135	2.709000	0.92574	0.655000	0.94253	GGG		0.597	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	NM_021161		T	88652217	C	T	88652217	3	4	702	1	0	0	0	0	1	0	0	0	8061	623	22	2	341	2	KCNK10	14	88652217	Missense_Mutation	SNP	C	TCGA-KL-8333-01A-11D-2310-10		88652217	18697323	40	39059											
DYX1C1	161582	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	15	55731737	55731737	+	Missense_Mutation	SNP	C	C	A			TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr15:55731737C>A	ENST00000321149.3	-	7	1193	c.826G>T	c.(826-828)Gac>Tac	p.D276Y	DYX1C1_ENST00000448430.2_Missense_Mutation_p.D276Y|DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000348518.3_Missense_Mutation_p.D276Y|DYX1C1_ENST00000457155.2_Missense_Mutation_p.D276Y|DYX1C1_ENST00000380679.1_Missense_Mutation_p.D276Y	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1	276					cilium movement (GO:0003341)|determination of left/right symmetry (GO:0007368)|inner dynein arm assembly (GO:0036159)|neuron migration (GO:0001764)|outer dynein arm assembly (GO:0036158)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of proteasomal protein catabolic process (GO:0061136)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		TCAGCTATGTCAGTATTCATT	0.338																																																0													104	100	101					15																	55731737		2193	4291	6484	SO:0001583	missense	161582				CCDS10154.1, CCDS32243.1, CCDS32244.1	15q21.3	2014-09-11			ENSG00000256061	ENSG00000256061		"Tetratricopeptide (TTC) repeat domain containing"	21493	protein-coding gene	gene with protein product		608706				12954984	Standard	NM_130810		Approved	EKN1, FLJ37882, CILD25	uc002adc.3	Q8WXU2	OTTHUMG00000132008	ENST00000321149.3:c.826G>T	15.37:g.55731737C>A	ENSP00000323275:p.Asp276Tyr		Q6P5Y9|Q8N1S6	Missense_Mutation	SNP	ENST00000321149.3	37	CCDS10154.1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.839365	0.71488	.	.	ENSG00000256061	ENST00000420792;ENST00000448430;ENST00000380679;ENST00000457155;ENST00000321149;ENST00000348518	D;D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57;-1.57	5.09	5.09	0.68999	.	0.064564	0.64402	U	0.000015	D	0.90195	0.6935	M	0.69823	2.125	0.54753	D	0.999981	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.68353	0.957;0.929;0.944	D	0.90778	0.4677	10	0.59425	D	0.04	.	17.8393	0.88710	0.0:1.0:0.0:0.0	.	276;276;276	Q8WXU2-3;Q8WXU2;Q8WXU2-2	.;DYXC1_HUMAN;.	Y	276	ENSP00000403412:D276Y;ENSP00000370054:D276Y;ENSP00000402640:D276Y;ENSP00000323275:D276Y;ENSP00000299561:D276Y	ENSP00000323275:D276Y	D	-	1	0	DYX1C1	53519029	1.000000	0.71417	1.000000	0.80357	0.590000	0.36582	3.907000	0.56348	2.521000	0.84997	0.563000	0.77884	GAC		0.338	DYX1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254976.1	NM_130810		A	55731737	C	A	55731737	3	1	702	1	0	0	0	0	1	0	0	0	4864	826	29	4	555	4	DYX1C1	15	55731737	Missense_Mutation	SNP	C	TCGA-KL-8333-01A-11D-2310-10		55731737	46799655	41	39060											
ACSM5	54988	bcgsc.ca	37	16	20430733	20430733	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr16:20430733G>A	ENST00000331849.4	+	4	746	c.599G>A	c.(598-600)tGg>tAg	p.W200*	ACSM5_ENST00000575584.1_Nonsense_Mutation_p.W200*	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	200					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						CGGCCAGGCTGGTTGAACTTC	0.527																																																0													46	44	45					16																	20430733		2203	4299	6502	SO:0001587	stop_gained	54988				CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"Acyl-CoA synthetase family"	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.599G>A	16.37:g.20430733G>A	ENSP00000327916:p.Trp200*		Q96AV1|Q96CX8|Q9NWV3	Nonsense_Mutation	SNP	ENST00000331849.4	37	CCDS10585.1	.	.	.	.	.	.	.	.	.	.	G	35	5.520590	0.96416	.	.	ENSG00000183549	ENST00000331849	.	.	.	4.65	4.65	0.58169	.	0.000000	0.56097	D	0.000024	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.0847	17.6834	0.88250	0.0:0.0:1.0:0.0	.	.	.	.	X	200	.	ENSP00000327916:W200X	W	+	2	0	ACSM5	20338234	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.372000	0.79612	2.561000	0.86390	0.650000	0.86243	TGG		0.527	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888		A	20430733	G	A	20430733	4	1	702	1	0	0	0	0	0	1	0	0	187	1357	47	2	609	2	ACSM5	16	20430733	Nonsense_Mutation	SNP	G	TCGA-KL-8333-01A-11D-2310-10		20430733	69924020	42	39061											
RRAD	6236	ucsc.edu	37	16	66958810	66958810	+	Silent	SNP	A	A	G			TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr16:66958810A>G	ENST00000299759.6	-	2	523	c.273T>C	c.(271-273)gtT>gtC	p.V91V	RRAD_ENST00000420652.1_Silent_p.V91V			P55042	RAD_HUMAN	Ras-related associated with diabetes	91					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)		GCACCTTGTAAACGCTCTCGT	0.721																																																0													10	12	11					16																	66958810		2196	4296	6492	SO:0001819	synonymous_variant	6236			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.273T>C	16.37:g.66958810A>G			Q96F39	Silent	SNP	ENST00000299759.6	37	CCDS10824.1																																																																																				0.721	RRAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268830.1	NM_004165		G	66958810	A	G	66958810	2	3	702	1	0	0	0	0	0	0	0	1	13677	1	1	3		3	RRAD	16	66958810	Silent	SNP	A	TCGA-KL-8333-01A-11D-2310-10	46528077	66958810	23395943	43	39062											
CPNE7	27132	broad.mit.edu;bcgsc.ca	37	16	89649860	89649860	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr16:89649860A>G	ENST00000268720.5	+	4	636	c.506A>G	c.(505-507)gAc>gGc	p.D169G	CPNE7_ENST00000319518.8_Intron	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN	copine VII	169					lipid metabolic process (GO:0006629)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		aggtatgatgacctctgcctc	0.642																																																0													40	25	30					16																	89649860		2039	4043	6082	SO:0001583	missense	27132			AJ133798	CCDS10980.1, CCDS10981.1	16q24.3	2008-07-03			ENSG00000178773	ENSG00000178773			2320	protein-coding gene	gene with protein product		605689					Standard	NM_014427		Approved		uc002fnq.3	Q9UBL6	OTTHUMG00000138051	ENST00000268720.5:c.506A>G	16.37:g.89649860A>G	ENSP00000268720:p.Asp169Gly			Missense_Mutation	SNP	ENST00000268720.5	37	CCDS10980.1	.	.	.	.	.	.	.	.	.	.	A	1.390	-0.581055	0.03854	.	.	ENSG00000178773	ENST00000268720	T	0.27557	1.66	0.748	-0.804	0.10882	.	290.740000	0.00166	U	0.000000	T	0.14917	0.0360	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.09907	-1.0653	10	0.23891	T	0.37	.	2.7152	0.05185	0.5777:0.0:0.0:0.4223	.	169	Q9UBL6	CPNE7_HUMAN	G	169	ENSP00000268720:D169G	ENSP00000268720:D169G	D	+	2	0	CPNE7	88177361	0.000000	0.05858	0.003000	0.11579	0.041000	0.13682	-0.257000	0.08745	-0.316000	0.08690	-0.871000	0.02989	GAC		0.642	CPNE7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269929.2			G	89649860	A	G	89649860	3	3	702	1	0	0	0	0	1	0	0	0	3819	275	10	3	520	3	CPNE7	16	89649860	Missense_Mutation	SNP	A	TCGA-KL-8333-01A-11D-2310-10	22691050	89649860	704893	44	39063											
FBXW10	10517	mdanderson.org	37	17	18682163	18682163	+	Missense_Mutation	SNP	T	T	C	rs199779085	byFrequency	TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr17:18682163T>C	ENST00000395665.4	+	14	2932	c.2711T>C	c.(2710-2712)gTc>gCc	p.V904A	TVP23B_ENST00000574226.1_5'Flank|FBXW10_ENST00000308799.4_Missense_Mutation_p.V913A|FBXW10_ENST00000301938.4_Missense_Mutation_p.V851A|TVP23B_ENST00000307767.8_5'Flank|FBXW10_ENST00000395667.1_Missense_Mutation_p.V903A|TVP23B_ENST00000476139.1_5'Flank			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	904										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						AGTCCTAGAGTCCAGTCCACC	0.488																																																0								T	ALA/VAL	1,4405		0,1,2202	97	105	102		2708	3.6	0.3	17	dbSNP_134	102	0,8600		0,0,4300	no	missense	FBXW10	NM_031456.3	64	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	probably-damaging	903/1052	18682163	1,13005	2203	4300	6503	SO:0001583	missense	10517			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.2711T>C	17.37:g.18682163T>C	ENSP00000379025:p.Val904Ala		C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Missense_Mutation	SNP	ENST00000395665.4	37	CCDS11199.3	.	.	.	.	.	.	.	.	.	.	T	9.638	1.138186	0.21123	2.27E-4	0.0	ENSG00000171931	ENST00000395667;ENST00000308799;ENST00000301938;ENST00000395665	T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07	3.62	3.62	0.41486	.	0.542452	0.13237	U	0.403195	T	0.74943	0.3783	M	0.66939	2.045	0.09310	N	1	P;P;P;P	0.44429	0.663;0.835;0.533;0.835	B;B;B;B	0.43889	0.343;0.435;0.185;0.435	T	0.67562	-0.5639	10	0.54805	T	0.06	.	5.4477	0.16546	0.0:0.13:0.0:0.87	.	851;913;904;903	Q5XX13-3;Q5XX13-2;Q5XX13;Q5XX13-4	.;.;FBW10_HUMAN;.	A	903;913;851;904	ENSP00000379026:V903A;ENSP00000310382:V913A;ENSP00000306937:V851A;ENSP00000379025:V904A	ENSP00000306937:V851A	V	+	2	0	FBXW10	18622888	0.187000	0.23238	0.327000	0.25402	0.635000	0.38103	3.727000	0.54984	1.477000	0.48234	0.338000	0.21704	GTC		0.488	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313531.2	NM_031456		C	18682163	T	C	18682163	3	2	702	1	0	0	0	0	1	0	0	0	5765	1667	58	3	2762	3	FBXW10	17	18682163	Missense_Mutation	SNP	T	TCGA-KL-8333-01A-11D-2310-10		18682163	62513047	45	39064											
RNF43	54894	hgsc.bcm.edu;ucsc.edu	37	17	56448329	56448329	+	Silent	SNP	G	G	T			TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr17:56448329G>T	ENST00000584437.1	-	2	2273	c.318C>A	c.(316-318)atC>atA	p.I106I	RNF43_ENST00000577625.1_5'UTR|RNF43_ENST00000583753.1_Intron|RNF43_ENST00000407977.2_Silent_p.I106I|RNF43_ENST00000581868.1_5'UTR|RNF43_ENST00000500597.2_Intron|RNF43_ENST00000577716.1_Silent_p.I106I|BZRAP1-AS1_ENST00000583841.1_RNA			Q68DV7	RNF43_HUMAN	ring finger protein 43	106					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)					CCAGCTTGACGATGCTGATGA	0.592																																																0													83	68	73					17																	56448329		2203	4300	6503	SO:0001819	synonymous_variant	54894				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.318C>A	17.37:g.56448329G>T			A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Silent	SNP	ENST00000584437.1	37	CCDS11607.1																																																																																				0.592	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		T	56448329	G	T	56448329	2	4	702	1	0	0	0	0	0	0	0	1	13501	1048	37	4		4	RNF43	17	56448329	Silent	SNP	G	TCGA-KL-8333-01A-11D-2310-10	37766166	56448329	24746881	46	39065											
FASN	2194	ucsc.edu	37	17	80049269	80049269	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr17:80049269C>T	ENST00000306749.2	-	9	1539	c.1321G>A	c.(1321-1323)Ggc>Agc	p.G441S		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	441	Acyl and malonyl transferases. {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)	TGCCGGAGGCCCTGCTCCAGC	0.721																																					Colon(59;314 1043 11189 28578 32273)											0													16	20	19					17																	80049269		2183	4284	6467	SO:0001583	missense	2194			U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"Short chain dehydrogenase/reductase superfamily / Atypical members"	3594	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 27X, member 1"	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.1321G>A	17.37:g.80049269C>T	ENSP00000304592:p.Gly441Ser		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	ENST00000306749.2	37	CCDS11801.1	.	.	.	.	.	.	.	.	.	.	C	7.488	0.650141	0.14516	.	.	ENSG00000169710	ENST00000306749	T	0.26223	1.75	4.41	4.41	0.53225	.	0.120650	0.56097	D	0.000026	T	0.16685	0.0401	L	0.38175	1.15	0.43126	D	0.994857	B	0.20052	0.041	B	0.16289	0.015	T	0.10314	-1.0635	10	0.27785	T	0.31	-42.7918	5.2574	0.15553	0.0:0.7415:0.0:0.2585	.	441	P49327	FAS_HUMAN	S	441	ENSP00000304592:G441S	ENSP00000304592:G441S	G	-	1	0	FASN	77642558	1.000000	0.71417	0.974000	0.42286	0.050000	0.14768	2.796000	0.47869	2.298000	0.77334	0.484000	0.47621	GGC		0.721	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		T	80049269	C	T	80049269	3	4	702	1	0	0	0	0	1	0	0	0	5685	623	22	2	6354	2	FASN	17	80049269	Missense_Mutation	SNP	C	TCGA-KL-8333-01A-11D-2310-10	23600940	80049269	1145941	47	39066											
EPS15L1	58513	bcgsc.ca	37	19	16513266	16513266	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr19:16513266T>C	ENST00000248070.6	-	16	1796	c.1657A>G	c.(1657-1659)Agc>Ggc	p.S553G	EPS15L1_ENST00000597937.1_Missense_Mutation_p.S553G|EPS15L1_ENST00000602009.1_Missense_Mutation_p.S399G|EPS15L1_ENST00000594975.1_Missense_Mutation_p.S553G|EPS15L1_ENST00000535753.2_Missense_Mutation_p.S553G|EPS15L1_ENST00000455140.2_Missense_Mutation_p.S553G	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	553					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						TCCTGGCGGCTTTCATGCAGC	0.542																																																0													56	56	56					19																	16513266		2203	4300	6503	SO:0001583	missense	58513			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.1657A>G	19.37:g.16513266T>C	ENSP00000248070:p.Ser553Gly		A2RRF3|A5PL29|B4DKA3	Missense_Mutation	SNP	ENST00000248070.6	37	CCDS32944.1	.	.	.	.	.	.	.	.	.	.	T	13.00	2.106253	0.37145	.	.	ENSG00000127527	ENST00000455140;ENST00000248070;ENST00000535753	T;T;T	0.33654	1.55;1.8;1.4	5.5	3.17	0.36434	.	0.087286	0.85682	D	0.000000	T	0.26268	0.0641	L	0.43152	1.355	0.46241	D	0.998942	B;B;P;P;B;B	0.42078	0.154;0.286;0.77;0.626;0.042;0.156	B;B;B;B;B;B	0.37387	0.08;0.082;0.248;0.156;0.055;0.167	T	0.02852	-1.1102	10	0.41790	T	0.15	.	7.4424	0.27192	0.1478:0.0:0.134:0.7181	.	553;553;552;553;553;553	A8K5P4;A5PL29;A5PKY0;A2RRF3;Q9UBC2;G3V0H2	.;.;.;.;EP15R_HUMAN;.	G	553	ENSP00000393313:S553G;ENSP00000248070:S553G;ENSP00000440103:S553G	ENSP00000248070:S553G	S	-	1	0	EPS15L1	16374266	1.000000	0.71417	0.931000	0.37212	0.912000	0.54170	4.411000	0.59781	0.893000	0.36288	0.533000	0.62120	AGC		0.542	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461040.1	NM_021235		C	16513266	T	C	16513266	3	2	702	1	0	0	0	0	1	0	0	0	5195	1609	56	3	969	3	EPS15L1	19	16513266	Missense_Mutation	SNP	T	TCGA-KL-8333-01A-11D-2310-10		16513266	42615717	48	39067											
ZNF98	148198	mdanderson.org	37	19	22574547	22574547	+	Missense_Mutation	SNP	T	T	A			TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr19:22574547T>A	ENST00000357774.5	-	4	1611	c.1490A>T	c.(1489-1491)aAa>aTa	p.K497I		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	497					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)				GTTAAAAGCTTTGCCACATTC	0.403																																																0													75	67	70					19																	22574547		2185	4284	6469	SO:0001583	missense	148198				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.1490A>T	19.37:g.22574547T>A	ENSP00000350418:p.Lys497Ile			Missense_Mutation	SNP	ENST00000357774.5	37	CCDS46031.1	.	.	.	.	.	.	.	.	.	.	.	12.78	2.041722	0.35989	.	.	ENSG00000197360	ENST00000357774	T	0.35048	1.33	1.26	0.0148	0.14101	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.57784	0.2077	M	0.87097	2.86	0.26544	N	0.974034	D	0.59767	0.986	D	0.74674	0.984	T	0.48198	-0.9056	9	0.87932	D	0	.	5.2489	0.15512	0.2563:0.0:0.0:0.7437	.	497	A6NK75	ZNF98_HUMAN	I	497	ENSP00000350418:K497I	ENSP00000350418:K497I	K	-	2	0	ZNF98	22366387	0.984000	0.35163	0.017000	0.16124	0.011000	0.07611	3.858000	0.55979	-0.306000	0.08818	-1.118000	0.02043	AAA		0.403	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464398.1	NM_001098626		A	22574547	T	A	22574547	3	1	702	1	0	0	0	0	1	0	0	0	18208	1841	64	5	232	5	ZNF98	19	22574547	Missense_Mutation	SNP	T	TCGA-KL-8333-01A-11D-2310-10	6061281	22574547	36554436	49	39068											
ZNF416	55659	mdanderson.org	37	19	58084930	58084930	+	Silent	SNP	G	G	A	rs3746222	byFrequency	TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr19:58084930G>A	ENST00000196489.3	-	4	564	c.342C>T	c.(340-342)acC>acT	p.T114T		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	114					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)		GCAAAATGTCGGTCAGGAATG	0.507													G|||	839	0.167532	0.202	0.1369	5008	,	,		20042	0.0942		0.2078	False		,,,				2504	0.1769															0								G		852,3554	334.4+/-303.4	76,700,1427	121	104	110		342	-2.1	0	19	dbSNP_107	110	1661,6939	307.2+/-308.3	153,1355,2792	no	coding-synonymous	ZNF416	NM_017879.1		229,2055,4219	AA,AG,GG		19.314,19.3373,19.3219		114/595	58084930	2513,10493	2203	4300	6503	SO:0001819	synonymous_variant	55659			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.342C>T	19.37:g.58084930G>A			Q9NWW8	Silent	SNP	ENST00000196489.3	37	CCDS12954.1																																																																																				0.507	ZNF416-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466787.1	NM_017879		A	58084930	G	A	58084930	2	1	702	1	0	0	0	0	0	0	0	1	17898	1103	39	1		1	ZNF416	19	58084930	Silent	SNP	G	TCGA-KL-8333-01A-11D-2310-10	35510383	58084930	1044053	50	39069											
ZNF814	730051	hgsc.bcm.edu	37	19	58385793	58385793	+	Missense_Mutation	SNP	C	C	T	rs113623532		TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr19:58385793C>T	ENST00000435989.2	-	3	1199	c.965G>A	c.(964-966)aGa>aAa	p.R322K	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	322					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						TTCATAAGGTCTTTTCCCAGT	0.358																																																0													15	12	13					19																	58385793		687	1562	2249	SO:0001583	missense	730051				CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.965G>A	19.37:g.58385793C>T	ENSP00000410545:p.Arg322Lys		A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	0.023	-1.395361	0.01175	.	.	ENSG00000204514	ENST00000435989	T	0.12361	2.69	2.27	9.47E-4	0.14044	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03608	0.0103	N	0.02225	-0.63	0.09310	N	0.999999	B	0.29301	0.241	B	0.28916	0.096	T	0.40534	-0.9558	9	0.02654	T	1	.	4.6969	0.12808	0.0:0.4166:0.0:0.5834	.	322	B7Z6K7	ZN814_HUMAN	K	322	ENSP00000410545:R322K	ENSP00000410545:R322K	R	-	2	0	ZNF814	63077605	0.000000	0.05858	0.024000	0.17045	0.009000	0.06853	-1.883000	0.01623	0.331000	0.23511	-1.381000	0.01174	AGA		0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		T	58385793	C	T	58385793	3	4	702	1	0	0	0	0	1	0	0	0	18181	913	32	2	1606	2	ZNF814	19	58385793	Missense_Mutation	SNP	C	TCGA-KL-8333-01A-11D-2310-10	300863	58385793	743190	51	39070											
SIRPG	55423	mdanderson.org	37	20	1617069	1617069	+	Silent	SNP	A	A	G	rs2277761	byFrequency	TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr20:1617069A>G	ENST00000303415.3	-	3	577	c.513T>C	c.(511-513)caT>caC	p.H171H	SIRPG_ENST00000344103.4_Intron|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000381580.1_Silent_p.H138H|SIRPG_ENST00000381583.2_Silent_p.H171H|RP11-77C3.3_ENST00000437384.1_RNA|SIRPG_ENST00000216927.4_Silent_p.H171H	NM_018556.3	NP_061026.2	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	171	Ig-like C1-type 1.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						GAGAGAAGCCATGGGACTCAC	0.557													a|||	1148	0.229233	0.1619	0.366	5008	,	,		19683	0.2103		0.2376	False		,,,				2504	0.2342															0								A	,,	726,3680		54,618,1531	149	133	138		513,513,	-4.2	0	20	dbSNP_100	138	2134,6466		266,1602,2432	no	coding-synonymous,coding-synonymous,intron	SIRPG	NM_001039508.1,NM_018556.3,NM_080816.2	,,	320,2220,3963	GG,GA,AA		24.814,16.4775,21.9899	,,	171/277,171/388,	1617069	2860,10146	2203	4300	6503	SO:0001819	synonymous_variant	55423			AB042624	CCDS13020.2, CCDS13021.2, CCDS33434.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000089012	ENSG00000089012		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	15757	protein-coding gene	gene with protein product		605466	"signal-regulatory protein beta 2"	SIRPB2		11185750, 16339511	Standard	XM_005260749		Approved	bA77C3.1, SIRP-B2, SIRPgamma, CD172g	uc002wfm.1	Q9P1W8	OTTHUMG00000031680	ENST00000303415.3:c.513T>C	20.37:g.1617069A>G			B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Silent	SNP	ENST00000303415.3	37	CCDS13020.2																																																																																				0.557	SIRPG-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077566.2	NM_018556		G	1617069	A	G	1617069	2	3	702	1	0	0	0	0	0	0	0	1	14342	214	8	3		3	SIRPG	20	1617069	Silent	SNP	A	TCGA-KL-8333-01A-11D-2310-10		1617069	61408451	52	39071											
C20orf117	140710	bcgsc.ca	37	20	35434275	35434275	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr20:35434275T>C	ENST00000357779.3	-	9	2512	c.2186A>G	c.(2185-2187)gAc>gGc	p.D729G	SOGA1_ENST00000279034.6_Missense_Mutation_p.D729G|SOGA1_ENST00000456801.2_Missense_Mutation_p.D570G|SOGA1_ENST00000237536.4_Missense_Mutation_p.D967G			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	729					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						GGTCCAGCTGTCCCCCGTGCA	0.488																																																0													92	94	94					20																	35434275		1964	4144	6108	SO:0001583	missense	140710			AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"suppressor of glucose by autophagy", "suppressor of glucose from autophagy"		"chromosome 20 open reading frame 117", "KIAA0889"	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.2186A>G	20.37:g.35434275T>C	ENSP00000350424:p.Asp729Gly		A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Missense_Mutation	SNP	ENST00000357779.3	37		.	.	.	.	.	.	.	.	.	.	T	15.24	2.775899	0.49786	.	.	ENSG00000149639	ENST00000237536;ENST00000279034;ENST00000456801;ENST00000357779	T;T;T;T	0.19394	2.15;2.2;2.2;2.2	5.27	5.27	0.74061	.	0.098624	0.64402	D	0.000002	T	0.17109	0.0411	L	0.34521	1.04	0.37209	D	0.904735	B	0.02656	0.0	B	0.06405	0.002	T	0.09975	-1.0650	10	0.23302	T	0.38	-39.071	14.3169	0.66457	0.0:0.0:0.0:1.0	.	729	O94964-4	.	G	967;729;570;729	ENSP00000237536:D967G;ENSP00000279034:D729G;ENSP00000413886:D570G;ENSP00000350424:D729G	ENSP00000237536:D967G	D	-	2	0	KIAA0889	34867689	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.552000	0.67281	2.216000	0.71823	0.460000	0.39030	GAC		0.488	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181		C	35434275	T	C	35434275	3	2	702	1	0	0	0	0	1	0	0	0	2085	1667	58	3	2175	3	C20orf117	20	35434275	Missense_Mutation	SNP	T	TCGA-KL-8333-01A-11D-2310-10	33817206	35434275	27591245	53	39072											
PRIC285	85441	broad.mit.edu	37	20	62194557	62194557	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr20:62194557delA	ENST00000467148.1	-	8	5687	c.5618delT	c.(5617-5619)gtgfs	p.V1873fs	HELZ2_ENST00000427522.2_Frame_Shift_Del_p.V1304fs	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	1873				V -> A (in Ref. 2; BAE46995). {ECO:0000305}.	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)										CTCCCGGGCCACCTCCAGGAA	0.701																																																0													7	8	7					20																	62194557		2134	4206	6340	SO:0001589	frameshift_variant	85441			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.5618delT	20.37:g.62194557delA	ENSP00000417401:p.Val1873fs		Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Frame_Shift_Del	DEL	ENST00000467148.1	37	CCDS33508.1																																																																																				0.701	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		-	62194557	A	-	62194557	7	5	702	1	0	1	0	1	0	0	0	0	12490	159	6	0	2379	0	PRIC285	20	62194557	Frame_Shift_Del	DEL	A	TCGA-KL-8333-01A-11D-2310-10	26760282	62194557	830963	54	39073											
CCDC157	550631	broad.mit.edu	37	22	30766573	30766573	+	Missense_Mutation	SNP	G	G	A	rs370198354		TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr22:30766573G>A	ENST00000405659.1	+	5	1388	c.679G>A	c.(679-681)Gtc>Atc	p.V227I	CCDC157_ENST00000338306.3_Missense_Mutation_p.V227I			Q569K6	CC157_HUMAN	coiled-coil domain containing 157	227										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						ATGCGCCAGCGTCCAGGGAAG	0.617																																																0													81	69	73					22																	30766573		2203	4300	6503	SO:0001583	missense	550631			BC018040	CCDS33632.2	22q12.2	2009-03-05			ENSG00000187860	ENSG00000187860			33854	protein-coding gene	gene with protein product							Standard	NM_001017437		Approved		uc011aku.2	Q569K6	OTTHUMG00000151007	ENST00000405659.1:c.679G>A	22.37:g.30766573G>A	ENSP00000385357:p.Val227Ile		Q0VD76|Q9BYA4	Missense_Mutation	SNP	ENST00000405659.1	37	CCDS33632.2	.	.	.	.	.	.	.	.	.	.	G	19.49	3.838226	0.71373	.	.	ENSG00000187860	ENST00000405659;ENST00000338306	T;T	0.27720	1.65;1.65	5.54	4.53	0.55603	.	0.136815	0.47852	D	0.000203	T	0.37237	0.0996	L	0.56769	1.78	0.80722	D	1	D	0.61697	0.99	P	0.47075	0.536	T	0.29518	-1.0009	10	0.51188	T	0.08	-46.0966	14.4936	0.67667	0.0698:0.0:0.9302:0.0	.	227	Q569K6	CC157_HUMAN	I	227	ENSP00000385357:V227I;ENSP00000343087:V227I	ENSP00000343087:V227I	V	+	1	0	CCDC157	29096573	0.982000	0.34865	0.965000	0.40720	0.155000	0.21991	1.856000	0.39389	1.586000	0.49944	-0.136000	0.14681	GTC		0.617	CCDC157-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320936.1	NM_001017437		A	30766573	G	A	30766573	3	1	702	1	0	0	0	0	1	0	0	0	2791	1145	40	1	689	1	CCDC157	22	30766573	Missense_Mutation	SNP	G	TCGA-KL-8333-01A-11D-2310-10		30766573	20537993	55	39074											
UBA1	7317	broad.mit.edu;mdanderson.org;bcgsc.ca	37	X	47062169	47062169	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chrX:47062169A>G	ENST00000335972.6	+	11	1372	c.1189A>G	c.(1189-1191)Ata>Gta	p.I397V	INE1_ENST00000456273.1_RNA|UBA1_ENST00000377351.4_Missense_Mutation_p.I397V|UBA1_ENST00000490869.1_3'UTR	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	397	2 approximate repeats.				cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|modification-dependent protein catabolic process (GO:0019941)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TCTGGCACCCATAAACGCCTT	0.602																																																0													37	31	33					X																	47062169		2203	4299	6502	SO:0001583	missense	7317			AF258566	CCDS14275.1	Xp11.23	2014-08-13	2007-11-30	2007-11-30	ENSG00000130985	ENSG00000130985	6.3.2.19	"Ubiquitin-like modifier activating enzymes"	12469	protein-coding gene	gene with protein product	"UBA1, ubiquitin-activating enzyme E1 homolog (yeast)", "POC20 centriolar protein homolog (Chlamydomonas)"	314370	"ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing)", "ubiquitin-activating enzyme E1"	A1S9T, GXP1, UBE1		1845793	Standard	NM_153280		Approved	UBE1X, POC20, CFAP124	uc004dhj.4	P22314	OTTHUMG00000021436	ENST00000335972.6:c.1189A>G	X.37:g.47062169A>G	ENSP00000338413:p.Ile397Val		Q5JRR8|Q96E13	Missense_Mutation	SNP	ENST00000335972.6	37	CCDS14275.1	.	.	.	.	.	.	.	.	.	.	A	8.371	0.835280	0.16820	.	.	ENSG00000130985	ENST00000377351;ENST00000335972	T;T	0.44482	0.92;0.92	4.85	3.71	0.42584	Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.141737	0.64402	D	0.000008	T	0.18964	0.0455	N	0.05177	-0.1	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.06285	-1.0835	10	0.30854	T	0.27	-4.3445	6.4032	0.21650	0.825:0.0:0.175:0.0	.	397	P22314	UBA1_HUMAN	V	397	ENSP00000366568:I397V;ENSP00000338413:I397V	ENSP00000338413:I397V	I	+	1	0	UBA1	46947113	0.061000	0.20836	0.742000	0.31022	0.959000	0.62525	0.558000	0.23469	1.921000	0.55644	0.427000	0.28365	ATA		0.602	UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056389.1	NM_003334		G	47062169	A	G	47062169	3	3	702	1	0	0	0	0	1	0	0	0	16832	217	8	3	1227	3	UBA1	23	47062169	Missense_Mutation	SNP	A	TCGA-KL-8333-01A-11D-2310-10		47062169	108208391	56	39075											
NUDT10	170685	broad.mit.edu	37	X	51076024	51076024	+	Silent	SNP	G	G	A	rs143435240		TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	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)											8	Substitution - coding silent(8)	endometrium(5)|cervix(1)|prostate(1)|lung(1)											52	62	59					X																	51076024		2203	4300	6503	SO:0001819	synonymous_variant	170685			AF469196	CCDS35278.1	Xp11.22-p11.1	2014-05-20			ENSG00000122824	ENSG00000122824		"Nudix motif containing"	17621	protein-coding gene	gene with protein product		300527				12105228	Standard	NM_153183		Approved	DIPP3a, hDIPP3alpha	uc004dph.3	Q8NFP7	OTTHUMG00000021530	ENST00000376006.3:c.207G>A	X.37:g.51076024G>A			Q8NBN1|Q8NCB9|Q8NG25	Silent	SNP	ENST00000376006.3	37	CCDS35278.1																																																																																				0.657	NUDT10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056578.1	NM_153183		A	51076024	G	A	51076024	2	1	702	1	0	0	0	0	0	0	0	1	10728	991	35	2		2	NUDT10	23	51076024	Silent	SNP	G	TCGA-KL-8333-01A-11D-2310-10	4013855	51076024	104194536	57	39076											
GPR112	139378	broad.mit.edu	37	X	135429078	135429078	+	Silent	SNP	T	T	C			TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chrX:135429078T>C	ENST00000394143.1	+	6	3504	c.3213T>C	c.(3211-3213)gcT>gcC	p.A1071A	GPR112_ENST00000370652.1_Silent_p.A1071A|GPR112_ENST00000394141.1_Silent_p.A866A|GPR112_ENST00000287534.4_Silent_p.A1008A|GPR112_ENST00000412101.1_Silent_p.A866A	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1071					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(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)					ATCAGACTGCTTCCACAACCA	0.473																																																0													269	248	255					X																	135429078		2203	4300	6503	SO:0001819	synonymous_variant	139378			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.3213T>C	X.37:g.135429078T>C			A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Silent	SNP	ENST00000394143.1	37	CCDS35409.1																																																																																				0.473	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			C	135429078	T	C	135429078	2	2	702	1	0	0	0	0	0	0	0	1	6631	1596	56	3		3	GPR112	23	135429078	Silent	SNP	T	TCGA-KL-8333-01A-11D-2310-10	84353054	135429078	19841482	58	39077											
ABCD1	215	mdanderson.org	37	X	153008675	153008675	+	Splice_Site	SNP	G	G	A	rs201197921		TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chrX:153008675G>A	ENST00000218104.3	+	9	2265	c.1866G>A	c.(1864-1866)agG>agA	p.R622R	U52111.14_ENST00000434284.1_RNA	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	622	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				alpha-linolenic acid metabolic process (GO:0036109)|ATP catabolic process (GO:0006200)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|linoleic acid metabolic process (GO:0043651)|long-chain fatty acid catabolic process (GO:0042758)|peroxisomal long-chain fatty acid import (GO:0015910)|peroxisomal membrane transport (GO:0015919)|peroxisome organization (GO:0007031)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid catabolic process (GO:0042760)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|peroxisomal fatty-acyl-CoA transporter activity (GO:0005325)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGACCCCCAGGCCCAAGTACG	0.672																																																0													14	14	14					X																	153008675		2201	4290	6491	SO:0001630	splice_region_variant	215			Z21876	CCDS14728.1	Xq28	2012-03-14			ENSG00000101986	ENSG00000101986		"ATP binding cassette transporters / subfamily D"	61	protein-coding gene	gene with protein product		300371		ALD		8441467, 6795626	Standard	NM_000033		Approved	AMN, ALDP, adrenoleukodystrophy	uc004fif.2	P33897	OTTHUMG00000024215	ENST00000218104.3:c.1866-1G>A	X.37:g.153008675G>A			Q6GTZ2	Silent	SNP	ENST00000218104.3	37	CCDS14728.1																																																																																				0.672	ABCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061041.1	NM_000033	Silent	A	153008675	G	A	153008675	5	1	702	1	0	0	0	0	0	0	1	0	60	1217	42	2	1900	2	ABCD1	23	153008675	Splice_Site	SNP	G	TCGA-KL-8333-01A-11D-2310-10	17579597	153008675	2261885	59	39078											
PDZK1IP1	10158	broad.mit.edu	37	1	47653017	47653017	+	Silent	SNP	G	G	A			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr1:47653017G>A	ENST00000294338.2	-	2	272	c.150C>T	c.(148-150)gtC>gtT	p.V50V	PDZK1IP1_ENST00000371885.1_Silent_p.V50V|PDZK1IP1_ENST00000491793.1_5'Flank	NM_005764.3	NP_005755.1	Q13113	PDZ1I_HUMAN	PDZK1 interacting protein 1	50						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(1)|lung(1)|prostate(1)	3						AGAAGTGGTTGACTGCAAAGG	0.622																																																0													64	55	58					1																	47653017		2202	4299	6501	SO:0001819	synonymous_variant	10158			U21049	CCDS546.1	1p33	2008-02-05			ENSG00000162366	ENSG00000162366			16887	protein-coding gene	gene with protein product		607178				9815914, 8701988, 12754212, 12837682	Standard	NM_005764		Approved	DD96, MAP17, SPAP	uc001cqw.3	Q13113	OTTHUMG00000007852	ENST00000294338.2:c.150C>T	1.37:g.47653017G>A			Q6ICT9|Q96EI1	Silent	SNP	ENST00000294338.2	37	CCDS546.1																																																																																				0.622	PDZK1IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021655.1	NM_005764		A	47653017	G	A	47653017	2	1	703	1	0	0	0	0	0	0	0	1	11710	1277	45	2		2	PDZK1IP1	1	47653017	Silent	SNP	G	TCGA-KL-8334-01A-11D-2310-10		47653017	201597604	1	39079											
USH2A	7399	broad.mit.edu	37	1	216219788	216219788	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr1:216219788T>C	ENST00000307340.3	-	32	6696	c.6310A>G	c.(6310-6312)Aac>Gac	p.N2104D	USH2A_ENST00000366943.2_Missense_Mutation_p.N2104D	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2104	Fibronectin type-III 7. {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)		ACTATGTAGTTCTCCTCACTG	0.403										HNSCC(13;0.011)																																						0													107	90	96					1																	216219788		2203	4300	6503	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.6310A>G	1.37:g.216219788T>C	ENSP00000305941:p.Asn2104Asp		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	1.716	-0.497836	0.04291	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.54071	0.59;0.59	5.42	4.28	0.50868	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.412679	0.20460	N	0.091907	T	0.41673	0.1169	L	0.46741	1.465	0.09310	N	0.999998	B	0.09022	0.002	B	0.08055	0.003	T	0.15723	-1.0427	10	0.29301	T	0.29	.	7.6799	0.28507	0.0:0.158:0.0:0.842	.	2104	O75445	USH2A_HUMAN	D	2104	ENSP00000305941:N2104D;ENSP00000355910:N2104D	ENSP00000305941:N2104D	N	-	1	0	USH2A	214286411	0.421000	0.25465	0.989000	0.46669	0.074000	0.17049	1.333000	0.33816	2.187000	0.69744	0.528000	0.53228	AAC		0.403	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		C	216219788	T	C	216219788	3	2	703	1	0	0	0	0	1	0	0	0	17041	1783	62	3	9462	3	USH2A	1	216219788	Missense_Mutation	SNP	T	TCGA-KL-8334-01A-11D-2310-10	168566771	216219788	33030833	2	39080											
ENAH	55740	broad.mit.edu	37	1	225702514	225702515	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr1:225702514_225702515insG	ENST00000366844.3	-	7	1452_1453	c.1001_1002insC	c.(1000-1002)ccafs	p.P334fs	ENAH_ENST00000284563.6_Frame_Shift_Ins_p.P581fs|ENAH_ENST00000366843.2_Frame_Shift_Ins_p.P334fs	NM_001008493.1|NM_018212.4	NP_001008493.1|NP_060682.2	Q8N8S7	ENAH_HUMAN	enabled homolog (Drosophila)	334	Pro-rich.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|intracellular transport (GO:0046907)|neural tube closure (GO:0001843)|T cell receptor signaling pathway (GO:0050852)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)|synapse (GO:0045202)	WW domain binding (GO:0050699)			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		gagggggccctgggggaggagg	0.658																																																0																																										SO:0001589	frameshift_variant	55740			AK001635	CCDS31040.1, CCDS31041.1	1q32.2	2013-08-06			ENSG00000154380	ENSG00000154380			18271	protein-coding gene	gene with protein product	"mammalian enabled"	609061				1420303	Standard	XM_005273182		Approved	FLJ10773, NDPP1, MENA	uc001hpc.1	Q8N8S7	OTTHUMG00000037742	ENST00000366844.3:c.1002dupC	1.37:g.225702519_225702519dupG	ENSP00000355809:p.Pro334fs		D0PQI2|Q502W5|Q5T5M7|Q5VTQ9|Q5VTR0|Q9NVF3|Q9UFB8	Frame_Shift_Ins	INS	ENST00000366844.3	37	CCDS31041.1																																																																																				0.658	ENAH-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000357426.2	NM_018212		G	225702515	-	G	225702514	7	5	703	1	0	1	1	0	0	0	0	0	5113	1567	55	0	809	0	ENAH	1	225702514	Frame_Shift_Ins	INS	-	TCGA-KL-8334-01A-11D-2310-10	9482726	225702514	23548107	3	39081											
TRIM11	81559	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	228582602	228582602	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr1:228582602A>G	ENST00000284551.6	-	6	1489	c.1211T>C	c.(1210-1212)gTg>gCg	p.V404A	RP11-245P10.8_ENST00000602963.1_RNA|TRIM11_ENST00000493030.2_Missense_Mutation_p.V279A|TRIM11_ENST00000460651.1_5'UTR	NM_145214.2	NP_660215.1	Q96F44	TRI11_HUMAN	tripartite motif containing 11	404	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of neurogenesis (GO:0050768)|negative regulation of transcription, DNA-templated (GO:0045892)|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 viral entry into host cell (GO:0046598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				AAAGATCCCCACGCGCCTGGG	0.597																																																0													71	79	76					1																	228582602		2203	4300	6503	SO:0001583	missense	81559			AF220125	CCDS31048.1	1q42.13	2013-01-09	2011-01-25		ENSG00000154370	ENSG00000154370		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16281	protein-coding gene	gene with protein product		607868	"tripartite motif-containing 11"			11331580	Standard	NM_145214		Approved	RNF92, BIA1	uc001hss.3	Q96F44	OTTHUMG00000039773	ENST00000284551.6:c.1211T>C	1.37:g.228582602A>G	ENSP00000284551:p.Val404Ala		A6NKE2|B2RB82|B3KUS3|B4DX88|Q5VSU1|Q8NCA6|Q9C022	Missense_Mutation	SNP	ENST00000284551.6	37	CCDS31048.1	.	.	.	.	.	.	.	.	.	.	A	15.81	2.943345	0.53079	.	.	ENSG00000154370	ENST00000284551	T	0.75589	-0.95	4.76	4.76	0.60689	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.43747	D	0.000540	D	0.87410	0.6170	M	0.90650	3.135	0.80722	D	1	P;D	0.60575	0.912;0.988	P;D	0.70935	0.741;0.971	D	0.89783	0.3962	10	0.87932	D	0	.	12.5428	0.56182	1.0:0.0:0.0:0.0	.	403;404	Q96F44-3;Q96F44	.;TRI11_HUMAN	A	404	ENSP00000284551:V404A	ENSP00000284551:V404A	V	-	2	0	TRIM11	226649225	0.970000	0.33590	0.691000	0.30163	0.025000	0.11179	8.827000	0.92041	1.920000	0.55613	0.496000	0.49642	GTG		0.597	TRIM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095995.3	NM_145214		G	228582602	A	G	228582602	3	3	703	1	0	0	0	0	1	0	0	0	16492	159	6	3	199	3	TRIM11	1	228582602	Missense_Mutation	SNP	A	TCGA-KL-8334-01A-11D-2310-10	2880088	228582602	20668019	4	39082											
SLC1A4	6509	ucsc.edu	37	2	65217143	65217143	+	Silent	SNP	C	C	A	rs561935539		TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr2:65217143C>A	ENST00000234256.3	+	1	609	c.366C>A	c.(364-366)ggC>ggA	p.G122G	SLC1A4_ENST00000531327.1_Intron|SLC1A4_ENST00000493121.1_Intron	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN	solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	122					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)	CCTACTTTGGCCTCACCACAC	0.682																																																0													16	18	17					2																	65217143		2203	4300	6503	SO:0001819	synonymous_variant	6509				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.366C>A	2.37:g.65217143C>A			B7Z3C0|D6W5F0	Silent	SNP	ENST00000234256.3	37	CCDS1879.1																																																																																				0.682	SLC1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251726.2	NM_003038		A	65217143	C	A	65217143	2	1	703	1	0	0	0	0	0	0	0	1	14440	726	26	4		4	SLC1A4	2	65217143	Silent	SNP	C	TCGA-KL-8334-01A-11D-2310-10		65217143	177982230	5	39083											
MPHOSPH10	10199	bcgsc.ca	37	2	71357850	71357850	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr2:71357850G>A	ENST00000244230.2	+	1	407	c.55G>A	c.(55-57)Ggc>Agc	p.G19S	MPHOSPH10_ENST00000468427.1_3'UTR|MPHOSPH10_ENST00000498451.2_Missense_Mutation_p.G19S|MCEE_ENST00000244217.5_5'Flank	NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	19					negative regulation of phosphatase activity (GO:0010923)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|rRNA processing (GO:0006364)	chromosome (GO:0005694)|nucleolus (GO:0005730)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						GACGGAAGTCGGCAAAGCCAC	0.672																																																0													24	25	25					2																	71357850		2202	4297	6499	SO:0001583	missense	10199			X98494	CCDS1916.1	2p13.3	2014-06-12			ENSG00000124383	ENSG00000124383			7213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 106"	605503				8885239, 9450966	Standard	NM_005791		Approved	MPP10, MPP10P, CT90, PPP1R106	uc002sht.2	O00566	OTTHUMG00000129715	ENST00000244230.2:c.55G>A	2.37:g.71357850G>A	ENSP00000244230:p.Gly19Ser		A0AVJ8	Missense_Mutation	SNP	ENST00000244230.2	37	CCDS1916.1	.	.	.	.	.	.	.	.	.	.	G	9.483	1.098617	0.20552	.	.	ENSG00000124383	ENST00000244230	T	0.09350	2.99	3.75	-3.11	0.05299	.	0.598323	0.17691	N	0.165270	T	0.07188	0.0182	L	0.53249	1.67	0.09310	N	0.999994	B;B	0.19583	0.035;0.037	B;B	0.12837	0.005;0.008	T	0.45498	-0.9257	10	0.09843	T	0.71	.	5.4531	0.16576	0.5603:0.1586:0.2811:0.0	.	19;19	B3KPV5;O00566	.;MPP10_HUMAN	S	19	ENSP00000244230:G19S	ENSP00000244230:G19S	G	+	1	0	MPHOSPH10	71211358	0.000000	0.05858	0.000000	0.03702	0.193000	0.23685	0.095000	0.15127	-0.753000	0.04721	-0.259000	0.10710	GGC		0.672	MPHOSPH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251924.2	NM_005791		A	71357850	G	A	71357850	3	1	703	1	0	0	0	0	1	0	0	0	9727	1116	39	1	57	1	MPHOSPH10	2	71357850	Missense_Mutation	SNP	G	TCGA-KL-8334-01A-11D-2310-10	6140707	71357850	171841523	6	39084											
NBEAL1	65065	broad.mit.edu	37	2	204055051	204055051	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr2:204055051A>G	ENST00000449802.1	+	45	7106	c.6773A>G	c.(6772-6774)gAa>gGa	p.E2258G		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2258	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.									NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GATGAGAAAGAAAGAAAAGCC	0.353																																																0													105	106	105					2																	204055051		1852	4092	5944	SO:0001583	missense	65065			AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"WD repeat domain containing"	20681	protein-coding gene	gene with protein product		609816	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17", "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.6773A>G	2.37:g.204055051A>G	ENSP00000399903:p.Glu2258Gly		A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	ENST00000449802.1	37	CCDS46495.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.680066	0.88542	.	.	ENSG00000144426	ENST00000449802;ENST00000340268;ENST00000414576	D;D	0.81499	-1.5;-1.5	5.21	5.21	0.72293	BEACH domain (4);	0.048085	0.85682	D	0.000000	D	0.92001	0.7466	M	0.93462	3.42	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.998	D	0.93688	0.7004	10	0.59425	D	0.04	.	15.036	0.71748	1.0:0.0:0.0:0.0	.	2258;2247	Q6ZS30;C9JGK5	NBEL1_HUMAN;.	G	2258;2258;273	ENSP00000399903:E2258G;ENSP00000388466:E273G	ENSP00000344985:E2258G	E	+	2	0	NBEAL1	203763296	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	8.791000	0.91849	2.091000	0.63221	0.377000	0.23210	GAA		0.353	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4			G	204055051	A	G	204055051	3	3	703	1	0	0	0	0	1	0	0	0	10190	246	9	3	6947	3	NBEAL1	2	204055051	Missense_Mutation	SNP	A	TCGA-KL-8334-01A-11D-2310-10	132697201	204055051	39144322	7	39085											
EEF1B2	1933	hgsc.bcm.edu	37	2	207027464	207027464	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr2:207027464C>T	ENST00000392222.2	+	6	910	c.535C>T	c.(535-537)Cca>Tca	p.P179S	EEF1B2_ENST00000236957.5_Missense_Mutation_p.P179S|SNORA41_ENST00000384675.1_RNA|SNORD51_ENST00000384320.2_RNA|EEF1B2_ENST00000392221.1_Missense_Mutation_p.P179S	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	179					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)	translation elongation factor activity (GO:0003746)			breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						TAAACTAGTTCCAGTGGGATA	0.358																																																0													79	86	83					2																	207027464		2203	4300	6503	SO:0001583	missense	1933			X60489	CCDS2367.1	2q33.3	2011-04-28			ENSG00000114942	ENSG00000114942			3208	protein-coding gene	gene with protein product		600655				8250921	Standard	NM_001959		Approved		uc002vbf.1	P24534	OTTHUMG00000132891	ENST00000392222.2:c.535C>T	2.37:g.207027464C>T	ENSP00000376056:p.Pro179Ser		A8K795|Q6IBH9	Missense_Mutation	SNP	ENST00000392222.2	37	CCDS2367.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.787326	0.90367	.	.	ENSG00000114942	ENST00000236957;ENST00000392221;ENST00000392222	.	.	.	5.2	5.2	0.72013	Translation elongation factor EF1B/ribosomal protein S6 (1);Translation elongation factor EF1B, beta/delta subunit, guanine nucleotide exchange (3);	0.000000	0.85682	D	0.000000	D	0.83718	0.5315	M	0.82433	2.59	0.80722	D	1	P	0.48294	0.908	D	0.68483	0.958	D	0.85972	0.1477	9	0.87932	D	0	-1.39	18.7341	0.91748	0.0:1.0:0.0:0.0	.	179	P24534	EF1B_HUMAN	S	179	.	ENSP00000236957:P179S	P	+	1	0	EEF1B2	206735709	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.435000	0.82474	0.655000	0.94253	CCA		0.358	EEF1B2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336436.1	NM_001037663		T	207027464	C	T	207027464	3	4	703	1	0	0	0	0	1	0	0	0	4927	855	30	2	557	2	EEF1B2	2	207027464	Missense_Mutation	SNP	C	TCGA-KL-8334-01A-11D-2310-10	2972413	207027464	36171909	8	39086											
SLC23A3	151295	ucsc.edu	37	2	220030023	220030023	+	Silent	SNP	A	A	G			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr2:220030023A>G	ENST00000409878.3	-	8	1067	c.1035T>C	c.(1033-1035)ccT>ccC	p.P345P	SLC23A3_ENST00000455516.2_Silent_p.P353P|SLC23A3_ENST00000295738.7_Intron|SLC23A3_ENST00000396775.3_Intron	NM_001144889.1	NP_001138361.1	Q6PIS1	S23A3_HUMAN	solute carrier family 23, member 3	345					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	11		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAGGTGGGGGAGGCAAATGCA	0.672																																																0													23	34	30					2																	220030023		692	1591	2283	SO:0001819	synonymous_variant	151295			BC030243	CCDS42819.1, CCDS46517.1, CCDS46518.1	2q35	2013-07-18	2013-07-18		ENSG00000213901	ENSG00000213901		"Solute carriers"	20601	protein-coding gene	gene with protein product							Standard	NM_144712		Approved	SVCT3, FLJ31168, Yspl1	uc010zkr.2	Q6PIS1	OTTHUMG00000154616	ENST00000409878.3:c.1035T>C	2.37:g.220030023A>G			B7Z512|Q2PYN6|Q96NA6	Silent	SNP	ENST00000409878.3	37	CCDS46518.1																																																																																				0.672	SLC23A3-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336331.2	NM_144712		G	220030023	A	G	220030023	2	3	703	1	0	0	0	0	0	0	0	1	14470	291	11	3		3	SLC23A3	2	220030023	Silent	SNP	A	TCGA-KL-8334-01A-11D-2310-10	13002559	220030023	23169350	9	39087											
COL4A3	1285	broad.mit.edu	37	2	228112294	228112294	+	Silent	SNP	A	A	G			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr2:228112294A>G	ENST00000396578.3	+	8	624	c.462A>G	c.(460-462)ggA>ggG	p.G154G	AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000606119.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	154	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GTTTGAAAGGACAAAAGGTAA	0.403																																																0													346	368	361					2																	228112294		1957	4142	6099	SO:0001819	synonymous_variant	1285				CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"Collagens"	2204	protein-coding gene	gene with protein product	"tumstatin"	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.462A>G	2.37:g.228112294A>G			Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Silent	SNP	ENST00000396578.3	37	CCDS42829.1																																																																																				0.403	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091		G	228112294	A	G	228112294	2	3	703	1	0	0	0	0	0	0	0	1	3693	262	10	3		3	COL4A3	2	228112294	Silent	SNP	A	TCGA-KL-8334-01A-11D-2310-10	8082271	228112294	15087079	10	39088											
COPS8	10920	broad.mit.edu	37	2	238004481	238004481	+	Silent	SNP	A	A	G			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr2:238004481A>G	ENST00000354371.2	+	6	1109	c.456A>G	c.(454-456)ggA>ggG	p.G152G	COPS8_ENST00000409334.1_Silent_p.G116G|COPS8_ENST00000409629.1_Silent_p.G149G|COPS8_ENST00000392008.2_Silent_p.G103G	NM_006710.4	NP_006701.1	Q99627	CSN8_HUMAN	COP9 signalosome subunit 8	152					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cullin deneddylation (GO:0010388)|negative regulation of cell proliferation (GO:0008285)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4		Breast(86;0.000162)|Renal(207;0.00339)|all_hematologic(139;0.0123)|Ovarian(221;0.0694)|Acute lymphoblastic leukemia(138;0.0775)|all_lung(227;0.169)|all_neural(83;0.211)		Epithelial(121;7.41e-23)|OV - Ovarian serous cystadenocarcinoma(60;5.42e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000175)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0258)		TAGAACAAGGATGGCAAGCTG	0.423																																																0													129	120	123					2																	238004481		2203	4300	6503	SO:0001819	synonymous_variant	10920				CCDS2517.1, CCDS42835.1	2q37.3	2013-03-14	2013-03-14		ENSG00000198612	ENSG00000198612			24335	protein-coding gene	gene with protein product			"COP9 constitutive photomorphogenic homolog subunit 8 (Arabidopsis)"			7634324, 12732143	Standard	NM_006710		Approved	COP9, CSN8, MGC1297, SGN8	uc002vwh.3	Q99627	OTTHUMG00000133297	ENST00000354371.2:c.456A>G	2.37:g.238004481A>G			A8K1H6|Q53QS9	Silent	SNP	ENST00000354371.2	37	CCDS2517.1																																																																																				0.423	COPS8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257082.3	NM_006710		G	238004481	A	G	238004481	2	3	703	1	0	0	0	0	0	0	0	1	3742	320	12	3		3	COPS8	2	238004481	Silent	SNP	A	TCGA-KL-8334-01A-11D-2310-10	9892187	238004481	5194892	11	39089											
AZI2	64343	broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	28365568	28365568	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr3:28365568C>T	ENST00000479665.1	-	8	1675	c.1144G>A	c.(1144-1146)Gat>Aat	p.D382N	AZI2_ENST00000295748.3_5'UTR|CMC1_ENST00000466830.1_3'UTR	NM_022461.3	NP_071906.1	Q9H6S1	AZI2_HUMAN	5-azacytidine induced 2	382					dendritic cell differentiation (GO:0097028)|dendritic cell proliferation (GO:0044565)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|interferon-alpha production (GO:0032607)|interferon-gamma production (GO:0032609)|interleukin-6 production (GO:0032635)|mitotic cell cycle (GO:0000278)|T cell activation (GO:0042110)|tumor necrosis factor production (GO:0032640)	cytoplasm (GO:0005737)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						TTATGTTGATCCAAGTAATGC	0.393																																																0													130	133	132					3																	28365568		2203	4299	6502	SO:0001583	missense	64343			AC093142	CCDS2647.1, CCDS46782.1, CCDS46783.1	3p23	2006-03-01			ENSG00000163512	ENSG00000163512			24002	protein-coding gene	gene with protein product		609916				10580148	Standard	NM_001134432		Approved	NAP1, FLJ21939, AZ2	uc003ceb.4	Q9H6S1	OTTHUMG00000130573	ENST00000479665.1:c.1144G>A	3.37:g.28365568C>T	ENSP00000419371:p.Asp382Asn		A8K3M2|C9JB40|H7BXU6|Q86W99|Q9BQF1	Missense_Mutation	SNP	ENST00000479665.1	37	CCDS2647.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.668401	0.88348	.	.	ENSG00000163512	ENST00000479665	.	.	.	5.94	5.94	0.96194	.	0.114416	0.64402	D	0.000016	T	0.76891	0.4051	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.77923	-0.2406	9	0.87932	D	0	-10.089	15.1295	0.72511	0.1413:0.8587:0.0:0.0	.	382	Q9H6S1	AZI2_HUMAN	N	382	.	ENSP00000419371:D382N	D	-	1	0	AZI2	28340572	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	3.282000	0.51693	2.820000	0.97059	0.650000	0.86243	GAT		0.393	AZI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252998.2	NM_203326		T	28365568	C	T	28365568	3	4	703	1	0	0	0	0	1	0	0	0	1241	855	30	2	38	2	AZI2	3	28365568	Missense_Mutation	SNP	C	TCGA-KL-8334-01A-11D-2310-10		28365568	169656862	12	39090											
OR5H1	26341	mdanderson.org	37	3	97851892	97851892	+	Silent	SNP	G	G	A	rs5009897		TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr3:97851892G>A	ENST00000354565.2	+	1	351	c.351G>A	c.(349-351)acG>acA	p.T117T	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	117						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						TCTTGGCAACGATGGCATATG	0.388																																																0													154	148	150					3																	97851892		2202	4299	6501	SO:0001819	synonymous_variant	26341			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.351G>A	3.37:g.97851892G>A				Silent	SNP	ENST00000354565.2	37	CCDS33797.1																																																																																				0.388	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359100.2	NM_001005338		A	97851892	G	A	97851892	2	1	703	1	0	0	0	0	0	0	0	1	11161	1045	37	1		1	OR5H1	3	97851892	Silent	SNP	G	TCGA-KL-8334-01A-11D-2310-10	69486324	97851892	100170538	13	39091											
KALRN	8997	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	3	124201729	124201729	+	Missense_Mutation	SNP	A	A	T			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr3:124201729A>T	ENST00000240874.3	+	28	4417	c.4260A>T	c.(4258-4260)aaA>aaT	p.K1420N	KALRN_ENST00000460856.1_Missense_Mutation_p.K1411N|KALRN_ENST00000360013.3_Missense_Mutation_p.K1420N	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1420	DH 1. {ECO:0000255|PROSITE- ProRule:PRU00062}.				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						GGATCACCAAATATCAACTGC	0.537																																																0													252	200	217					3																	124201729		2203	4300	6503	SO:0001583	missense	8997			U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	4814	protein-coding gene	gene with protein product	"serine/threonine kinase with Dbl and pleckstrin homology domains"	604605	"huntingtin-associated protein interacting protein (duo)"	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.4260A>T	3.37:g.124201729A>T	ENSP00000240874:p.Lys1420Asn		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	CCDS3027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.43|19.43	3.826148|3.826148	0.71143|0.71143	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013|ENST00000354186	T;T;T|.	0.41758|.	0.99;0.99;0.99|.	5.31|5.31	3.47|3.47	0.39725|0.39725	Dbl homology (DH) domain (5);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86814|0.86814	0.6023|0.6023	H|H	0.98199|0.98199	4.17|4.17	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;0.997;1.0|.	D;D;D;D|.	0.97110|.	1.0;1.0;0.991;1.0|.	D|D	0.89291|0.89291	0.3619|0.3619	10|5	0.87932|.	D|.	0|.	.|.	10.1107|10.1107	0.42561|0.42561	0.2349:0.0:0.7651:0.0|0.2349:0.0:0.7651:0.0	.|.	1411;766;1420;1420|.	C9IZQ6;F2Z3Q6;O60229;O60229-2|.	.;.;KALRN_HUMAN;.|.	N|I	1411;1420;1420|1389	ENSP00000418611:K1411N;ENSP00000240874:K1420N;ENSP00000353109:K1420N|.	ENSP00000240874:K1420N|.	K|N	+|+	3|2	2|0	KALRN|KALRN	125684419|125684419	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.948000|0.948000	0.59901|0.59901	2.240000|2.240000	0.43088|0.43088	1.449000|1.449000	0.47699|0.47699	-0.242000|-0.242000	0.12053|0.12053	AAA|AAT		0.537	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		T	124201729	A	T	124201729	3	4	703	1	0	0	0	0	1	0	0	0	7977	98	4	5	4370	5	KALRN	3	124201729	Missense_Mutation	SNP	A	TCGA-KL-8334-01A-11D-2310-10	26349837	124201729	73820701	14	39092											
EPHB1	2047	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	3	134873005	134873005	+	Missense_Mutation	SNP	G	G	A	rs183234182		TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr3:134873005G>A	ENST00000398015.3	+	6	1679	c.1309G>A	c.(1309-1311)Gtt>Att	p.V437I	EPHB1_ENST00000493838.1_5'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	437	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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						CCCCTCCACCGTTCCCATCAT	0.532													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20316	0.0		0.0	False		,,,				2504	0.0															0								G	ILE/VAL	0,4304		0,0,2152	199	212	207		1309	5	1	3		207	1,8563		0,1,4281	no	missense	EPHB1	NM_004441.4	29	0,1,6433	AA,AG,GG		0.0117,0.0,0.0078	possibly-damaging	437/985	134873005	1,12867	2152	4282	6434	SO:0001583	missense	2047			L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3392	protein-coding gene	gene with protein product		600600	"EphB1"	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.1309G>A	3.37:g.134873005G>A	ENSP00000381097:p.Val437Ile		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	CCDS46921.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	19.63	3.862742	0.71949	0.0	1.17E-4	ENSG00000154928	ENST00000398015	T	0.55588	0.51	5.0	5.0	0.66597	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.066621	0.64402	D	0.000014	T	0.50922	0.1644	M	0.64997	1.995	0.80722	D	1	P	0.42556	0.783	B	0.36885	0.235	T	0.56408	-0.7984	10	0.41790	T	0.15	.	18.0819	0.89443	0.0:0.0:1.0:0.0	.	437	P54762	EPHB1_HUMAN	I	437	ENSP00000381097:V437I	ENSP00000381097:V437I	V	+	1	0	EPHB1	136355695	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.657000	0.98554	2.610000	0.88304	0.655000	0.94253	GTT		0.532	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		A	134873005	G	A	134873005	3	1	703	1	0	0	0	0	1	0	0	0	5176	1145	40	1	1331	1	EPHB1	3	134873005	Missense_Mutation	SNP	G	TCGA-KL-8334-01A-11D-2310-10	10671276	134873005	63149425	15	39093											
CRIPAK	285464	hgsc.bcm.edu	37	4	1389130	1389130	+	Silent	SNP	G	G	A			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr4:1389130G>A	ENST00000324803.4	+	1	3791	c.831G>A	c.(829-831)ggG>ggA	p.G277G		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	277					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)		p.G277G(1)		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)			GCCGATGTGGGGTGCCCGCCT	0.687																																																1	Substitution - coding silent(1)	lung(1)											154	143	147					4																	1389130		2202	4299	6501	SO:0001819	synonymous_variant	285464			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.831G>A	4.37:g.1389130G>A			Q8NB03	Silent	SNP	ENST00000324803.4	37	CCDS3349.1																																																																																				0.687	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		A	1389130	G	A	1389130	2	1	703	1	0	0	0	0	0	0	0	1	3879	1219	43	2		2	CRIPAK	4	1389130	Silent	SNP	G	TCGA-KL-8334-01A-11D-2310-10		1389130	189765146	16	39094											
UCHL1	7345	mdanderson.org	37	4	41259633	41259633	+	Missense_Mutation	SNP	C	C	A	rs5030732	byFrequency	TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr4:41259633C>A	ENST00000284440.4	+	3	197	c.53C>A	c.(52-54)tCc>tAc	p.S18Y	UCHL1-AS1_ENST00000507190.1_RNA|UCHL1_ENST00000504818.1_3'UTR|UCHL1_ENST00000512788.1_Missense_Mutation_p.S18Y|UCHL1-AS1_ENST00000510073.1_RNA|UCHL1_ENST00000503431.1_Missense_Mutation_p.S18Y|UCHL1_ENST00000508768.1_Missense_Mutation_p.S18Y	NM_004181.4	NP_004172.2	P09936	UCHL1_HUMAN	ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)	18			S -> Y (found in patients with cataract; unknown pathological significance; loss of dimerization ability; impaired ligase activity; confers an antioxidant protective function when expressed at physiological levels in neuroblastoma cells and primary cortical neurons; dbSNP:rs5030732). {ECO:0000269|PubMed:10203348, ECO:0000269|PubMed:11027850, ECO:0000269|PubMed:15048890, ECO:0000269|PubMed:16450370, ECO:0000269|PubMed:21268678}.		adult walking behavior (GO:0007628)|axon target recognition (GO:0007412)|axon transport of mitochondrion (GO:0019896)|cell death (GO:0008219)|cell proliferation (GO:0008283)|eating behavior (GO:0042755)|muscle fiber development (GO:0048747)|negative regulation of MAP kinase activity (GO:0043407)|neuromuscular process (GO:0050905)|protein deubiquitination (GO:0016579)|response to ischemia (GO:0002931)|sensory perception of pain (GO:0019233)|ubiquitin-dependent protein catabolic process (GO:0006511)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	alpha-2A adrenergic receptor binding (GO:0031694)|cysteine-type endopeptidase activity (GO:0004197)|ligase activity (GO:0016874)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(2)	8						CAGGTGCTGTCCCGGCTGGGG	0.766													C|||	1272	0.253994	0.0121	0.2939	5008	,	,		10899	0.5437		0.1809	False		,,,				2504	0.3292															0			GRCh37	CM994452	UCHL1	M	rs5030732	C	TYR/SER	114,4064		2,110,1977	6	8	7	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	53	2.8	0.9	4	dbSNP_113	7	1114,7164		61,992,3086	no	missense	UCHL1	NM_004181.4	144	63,1102,5063	AA,AC,CC		13.4574,2.7286,9.8587	benign	18/224	41259633	1228,11228	2089	4139	6228	SO:0001583	missense	7345			BC000332	CCDS3462.1	4p13	2011-07-21			ENSG00000154277	ENSG00000154277	3.4.19.12	"Parkinson disease"	12513	protein-coding gene	gene with protein product		191342		PARK5		1840236	Standard	NM_004181		Approved	PGP9.5, Uch-L1	uc003gvo.3	P09936	OTTHUMG00000099377	ENST00000284440.4:c.53C>A	4.37:g.41259633C>A	ENSP00000284440:p.Ser18Tyr		Q4W5K6|Q71UM0	Missense_Mutation	SNP	ENST00000284440.4	37	CCDS3462.1	528	0.24175824175824176	16	0.032520325203252036	97	0.26795580110497236	282	0.493006993006993	133	0.17546174142480211	C	8.406	0.842968	0.16963	0.027286	0.134574	ENSG00000154277	ENST00000514924;ENST00000503431;ENST00000284440;ENST00000508768;ENST00000512788	T;T;T;T;T	0.56275	0.47;0.47;0.47;0.47;0.47	3.7	2.84	0.33178	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (4);	1.003210	0.08035	N	0.994193	T	0.00012	0.0000	L	0.37697	1.125	0.28202	P	0.9273172	P	0.38300	0.626	B	0.36567	0.228	T	0.44406	-0.9330	9	0.23891	T	0.37	-1.0546	13.1671	0.59577	0.0:0.8388:0.1611:0.0	rs5030732	18	P09936	UCHL1_HUMAN	Y	18	ENSP00000426634:S18Y;ENSP00000422542:S18Y;ENSP00000284440:S18Y;ENSP00000426895:S18Y;ENSP00000423623:S18Y	ENSP00000284440:S18Y	S	+	2	0	UCHL1	40954390	0.422000	0.25473	0.940000	0.37924	0.849000	0.48306	1.040000	0.30278	0.724000	0.32296	0.462000	0.41574	TCC		0.766	UCHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216827.1	NM_004181		A	41259633	C	A	41259633	3	1	703	1	0	0	0	0	1	0	0	0	16925	855	30	4	63	4	UCHL1	4	41259633	Missense_Mutation	SNP	C	TCGA-KL-8334-01A-11D-2310-10	39870503	41259633	149894643	17	39095											
DOCK2	1794	ucsc.edu	37	5	169504838	169504838	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr5:169504838A>G	ENST00000256935.8	+	48	5071	c.4991A>G	c.(4990-4992)gAg>gGg	p.E1664G	DOCK2_ENST00000520908.1_Missense_Mutation_p.E1156G|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.E725G	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1664					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)			CCTACCTCAGAGAGGTCAGTC	0.592																																																0													86	78	81					5																	169504838		2203	4300	6503	SO:0001583	missense	1794			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.4991A>G	5.37:g.169504838A>G	ENSP00000256935:p.Glu1664Gly		Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	A	14.42	2.531198	0.45073	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.09723	3.61;3.25;2.95	5.08	5.08	0.68730	.	0.281154	0.34959	N	0.003556	T	0.07999	0.0200	N	0.24115	0.695	0.46011	D	0.998817	B;B;B	0.30511	0.058;0.282;0.181	B;B;B	0.26770	0.045;0.05;0.073	T	0.35674	-0.9779	10	0.25106	T	0.35	.	13.9017	0.63809	1.0:0.0:0.0:0.0	.	1156;220;1664	E7ERW7;B3KY14;Q92608	.;.;DOCK2_HUMAN	G	1664;1156;725	ENSP00000256935:E1664G;ENSP00000429283:E1156G;ENSP00000438827:E725G	ENSP00000256935:E1664G	E	+	2	0	DOCK2	169437416	1.000000	0.71417	0.976000	0.42696	0.438000	0.31896	7.695000	0.84257	1.935000	0.56089	0.456000	0.33151	GAG		0.592	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		G	169504838	A	G	169504838	3	3	703	1	0	0	0	0	1	0	0	0	4689	304	11	3	5181	3	DOCK2	5	169504838	Missense_Mutation	SNP	A	TCGA-KL-8334-01A-11D-2310-10		169504838	11410422	18	39096											
HLA-C	3107	mdanderson.org	37	6	31238009	31238009	+	Silent	SNP	T	T	C	rs1131014	byFrequency	TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr6:31238009T>C	ENST00000376228.5	-	4	887	c.873A>G	c.(871-873)caA>caG	p.Q291Q	HLA-C_ENST00000383329.3_Silent_p.Q291Q	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	291	Alpha-3.|Ig-like C1-type.				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						TGAGGGGCTCTTGCAGCCCCT	0.592													C|||	2561	0.511382	0.6172	0.549	5008	,	,		13431	0.5744		0.4404	False		,,,				2504	0.3497															0													23	30	28					6																	31238009		2121	4194	6315	SO:0001819	synonymous_variant	3107			M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4933	protein-coding gene	gene with protein product		142840	"psoriasis susceptibility 1"	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.873A>G	6.37:g.31238009T>C			O02864|O02958|Q29643|Q9MY30	Silent	SNP	ENST00000376228.5	37	CCDS34393.1	872	0.3992673992673993	230	0.46747967479674796	148	0.4088397790055249	255	0.4458041958041958	239	0.3153034300791557	.	0.019	-1.465537	0.01053	.	.	ENSG00000204525	ENST00000415537	.	.	.	2.67	-5.33	0.02713	.	.	.	.	.	T	0.06005	0.0156	.	.	.	0.53005	P	3.799999999998249E-5	.	.	.	.	.	.	T	0.24154	-1.0168	3	.	.	.	.	2.6503	0.04996	0.1827:0.239:0.4507:0.1277	rs41551714	.	.	.	R	255	.	.	K	-	2	0	HLA-C	31345988	0.000000	0.05858	0.108000	0.21378	0.013000	0.08279	-3.876000	0.00344	-1.974000	0.00998	-0.711000	0.03637	AAG		0.592	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076281.3	NM_002117		C	31238009	T	C	31238009	2	2	703	1	0	0	0	0	0	0	0	1	7199	1606	56	3		3	HLA-C	6	31238009	Silent	SNP	T	TCGA-KL-8334-01A-11D-2310-10		31238009	139877058	19	39097											
EHMT2	10919	broad.mit.edu;bcgsc.ca	37	6	31848574	31848574	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr6:31848574A>G	ENST00000375537.4	-	27	3334	c.3328T>C	c.(3328-3330)Ttc>Ctc	p.F1110L	EHMT2-AS1_ENST00000434689.1_RNA|EHMT2_ENST00000395728.3_Missense_Mutation_p.F1167L|EHMT2_ENST00000375528.4_Missense_Mutation_p.F1133L|EHMT2_ENST00000375530.4_Missense_Mutation_p.F1076L|SLC44A4_ENST00000465707.1_5'Flank|EHMT2_ENST00000480912.1_5'UTR|SLC44A4_ENST00000375562.4_5'Flank|SLC44A4_ENST00000229729.6_5'Flank	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	1110	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				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						TGGTTGATGAAGCGGCTGATG	0.572																																																0													168	122	138					6																	31848574		2203	4300	6503	SO:0001583	missense	10919			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.3328T>C	6.37:g.31848574A>G	ENSP00000364687:p.Phe1110Leu		B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Missense_Mutation	SNP	ENST00000375537.4	37	CCDS4725.1	.	.	.	.	.	.	.	.	.	.	A	26.9	4.782755	0.90282	.	.	ENSG00000204371	ENST00000395728;ENST00000375528;ENST00000375530;ENST00000375537;ENST00000442298	D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65	4.35	4.35	0.52113	SET domain (3);	0.000000	0.85682	D	0.000000	D	0.89276	0.6669	M	0.82823	2.61	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;0.998;1.0;0.999	D	0.90970	0.4819	10	0.87932	D	0	.	12.9305	0.58284	1.0:0.0:0.0:0.0	.	1133;1076;1110;931	A2ABF8;Q96KQ7-2;Q96KQ7;Q59FM7	.;.;EHMT2_HUMAN;.	L	1167;1133;1076;1110;931	ENSP00000379078:F1167L;ENSP00000364678:F1133L;ENSP00000364680:F1076L;ENSP00000364687:F1110L	ENSP00000364678:F1133L	F	-	1	0	EHMT2	31956553	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.607000	0.90891	1.963000	0.57068	0.533000	0.62120	TTC		0.572	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	NM_006709		G	31848574	A	G	31848574	3	3	703	1	0	0	0	0	1	0	0	0	4986	72	3	3	312	3	EHMT2	6	31848574	Missense_Mutation	SNP	A	TCGA-KL-8334-01A-11D-2310-10	610565	31848574	139266493	20	39098											
HLA-DQA1	3117	bcgsc.ca	37	6	32609173	32609173	+	Missense_Mutation	SNP	C	C	G	rs10093	byFrequency	TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr6:32609173C>G	ENST00000343139.5	+	2	271	c.169C>G	c.(169-171)Cag>Gag	p.Q57E	HLA-DQA1_ENST00000374949.2_Missense_Mutation_p.Q57E|HLA-DQA1_ENST00000395363.1_Missense_Mutation_p.Q57E	NM_002122.3	NP_002113.2	P01909	DQA1_HUMAN	major histocompatibility complex, class II, DQ alpha 1	57	Alpha-1.		Q -> E (in allele DQA1*01:01, allele DQA1*01:04, allele DQA1*01:05, allele DQA1*01:07, allele DQA1*02:01, allele DQA1*03:01, allele DQA1*03:02 and allele DQA1*03:03; dbSNP:rs10093).		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						TGGAGATGAGCAGTTCTACGT	0.522													.|||	2020	0.403355	0.2958	0.4827	5008	,	,		13590	0.4216		0.4483	False		,,,				2504	0.4274															0								G	GLU/GLN	997,3405		292,413,1496	126	105	112		169	-7.7	0	6	dbSNP_52	112	2498,6052		852,794,2629	yes	missense	HLA-DQA1	NM_002122.3	29	1144,1207,4125	GG,GC,CC		29.2164,22.6488,26.9842	benign	57/256	32609173	3495,9457	2201	4275	6476	SO:0001583	missense	3117				CCDS4752.1	6p21.3	2013-01-11			ENSG00000196735	ENSG00000196735		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4942	protein-coding gene	gene with protein product		146880		HLA-DQA			Standard	NM_002122		Approved	CELIAC1	uc003obr.3	P01909	OTTHUMG00000031106	ENST00000343139.5:c.169C>G	6.37:g.32609173C>G	ENSP00000339398:p.Gln57Glu		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	CCDS4752.1	865|865	0.39606227106227104|0.39606227106227104	139|139	0.28252032520325204|0.28252032520325204	158|158	0.43646408839779005|0.43646408839779005	236|236	0.4125874125874126|0.4125874125874126	332|332	0.43799472295514513|0.43799472295514513	.|.	0.003|0.003	-2.453699|-2.453699	0.00175|0.00175	0.226488|0.226488	0.292164|0.292164	ENSG00000196735|ENSG00000196735	ENST00000343139;ENST00000395364;ENST00000395363;ENST00000496318;ENST00000374949|ENST00000486548	T;T;T;T|.	0.00695|.	5.83;5.83;5.83;5.83|.	3.83|3.83	-7.66|-7.66	0.01277|0.01277	.|.	1.886270|.	0.03418|.	N|.	0.205898|.	T|T	0.04137|0.04137	0.0115|0.0115	N|N	0.11000|0.11000	0.08|0.08	0.80722|0.80722	P|P	0.0|0.0	B;B|.	0.13145|.	0.007;0.0|.	B;B|.	0.19946|.	0.027;0.003|.	T|T	0.17837|0.17837	-1.0356|-1.0356	9|4	0.22109|.	T|.	0.4|.	.|.	8.8794|8.8794	0.35365|0.35365	0.118:0.5489:0.1922:0.1409|0.118:0.5489:0.1922:0.1409	rs10093;rs1129762;rs1130036;rs3188499;rs11545687;rs17354081;rs33909434|rs10093;rs1129762;rs1130036;rs3188499;rs11545687;rs17354081;rs33909434	63;57|.	Q59F33;G4XQK2|.	.;.|.	E|R	57|29	ENSP00000339398:Q57E;ENSP00000378767:Q57E;ENSP00000437302:Q57E;ENSP00000364087:Q57E|.	ENSP00000339398:Q57E|.	Q|S	+|+	1|3	0|2	HLA-DQA1|HLA-DQA1	32717151|32717151	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.007000|0.007000	0.05969|0.05969	-5.842000|-5.842000	0.00095|0.00095	-5.868000|-5.868000	0.00008|0.00008	-3.861000|-3.861000	0.00018|0.00018	CAG|AGC		0.522	HLA-DQA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076176.3	NM_002122		G	32609173	C	G	32609173	3	3	703	1	0	0	0	0	1	0	0	0	7206	711	25	4	175	4	HLA-DQA1	6	32609173	Missense_Mutation	SNP	C	TCGA-KL-8334-01A-11D-2310-10	760599	32609173	138505894	21	39099											
CPNE5	57699	broad.mit.edu;ucsc.edu	37	6	36759870	36759870	+	Silent	SNP	A	A	G			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr6:36759870A>G	ENST00000244751.2	-	8	1092	c.468T>C	c.(466-468)ggT>ggC	p.G156G		NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	156	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					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						TTCCTGGGACACCACTGGGAG	0.567																																																0													121	98	106					6																	36759870		2203	4300	6503	SO:0001819	synonymous_variant	57699			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.468T>C	6.37:g.36759870A>G			Q7Z6C8	Silent	SNP	ENST00000244751.2	37	CCDS4825.1																																																																																				0.567	CPNE5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040351.1	NM_020939		G	36759870	A	G	36759870	2	3	703	1	0	0	0	0	0	0	0	1	3817	146	6	3		3	CPNE5	6	36759870	Silent	SNP	A	TCGA-KL-8334-01A-11D-2310-10	4150697	36759870	134355197	22	39100											
CNR1	1268	hgsc.bcm.edu	37	6	88853866	88853866	+	Silent	SNP	C	C	T			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr6:88853866C>T	ENST00000537554.1	-	2	4690	c.1128G>A	c.(1126-1128)aaG>aaA	p.K376K	CNR1_ENST00000369501.2_Silent_p.K376K|CNR1_ENST00000535130.1_Silent_p.K376K|CNR1_ENST00000428600.2_Silent_p.K376K|CNR1_ENST00000468898.1_Silent_p.K343K|CNR1_ENST00000549890.1_Silent_p.K376K|CNR1_ENST00000549716.1_Silent_p.K315K|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000369499.2_Silent_p.K376K	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	376					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)	CAAACACCGTCTTAATGAGCT	0.517																																																0													128	123	125					6																	88853866		2203	4300	6503	SO:0001819	synonymous_variant	1268			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.1128G>A	6.37:g.88853866C>T			B2R9T4|E1P512|Q13949|Q495Z0|Q4PLI4|Q4VBM6|Q5JVL5|Q5UB37|Q9UNN0	Silent	SNP	ENST00000537554.1	37	CCDS5015.1																																																																																				0.517	CNR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354204.2			T	88853866	C	T	88853866	2	4	703	1	0	0	0	0	0	0	0	1	3633	912	32	2		2	CNR1	6	88853866	Silent	SNP	C	TCGA-KL-8334-01A-11D-2310-10	52093996	88853866	82261201	23	39101											
SFRS18	25957	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	6	99852539	99852539	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr6:99852539C>T	ENST00000369239.5	-	9	1246	c.1042G>A	c.(1042-1044)Gat>Aat	p.D348N	PNISR_ENST00000438806.1_Missense_Mutation_p.D348N	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	348						cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						TCTGTGACATCCAGCAGAATT	0.343																																																0													112	109	110					6																	99852539		2203	4299	6502	SO:0001583	missense	25957			AK027759	CCDS5043.1	6q16.3	2011-06-06	2011-06-06	2011-06-06	ENSG00000132424	ENSG00000132424			21222	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 111", "splicing factor, arginine/serine-rich 18"	C6orf111, SFRS18		14578391	Standard	NM_032870		Approved	FLJ14752, bA98I9.2, DKFZp564B0769, SRrp130	uc021zdd.1	Q8TF01	OTTHUMG00000015262	ENST00000369239.5:c.1042G>A	6.37:g.99852539C>T	ENSP00000358242:p.Asp348Asn		A8K540|E1P5D2|Q5T064|Q5T065|Q6P2B4|Q6P2N4|Q6PJ93|Q6PK36|Q7Z640|Q8N2L1|Q8TF00|Q96K10|Q96SI3|Q96SM5|Q9P076|Q9P0C0|Q9Y4N3	Missense_Mutation	SNP	ENST00000369239.5	37	CCDS5043.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.595129	0.86953	.	.	ENSG00000132424	ENST00000369239;ENST00000438806	T;T	0.48522	0.81;0.81	5.44	4.56	0.56223	.	0.091506	0.85682	D	0.000000	T	0.37046	0.0989	L	0.50333	1.59	0.54753	D	0.999987	P	0.50819	0.939	P	0.45538	0.484	T	0.42103	-0.9471	10	0.87932	D	0	.	16.2025	0.82095	0.0:0.8666:0.1334:0.0	.	348	Q8TF01	PNISR_HUMAN	N	348	ENSP00000358242:D348N;ENSP00000387997:D348N	ENSP00000358242:D348N	D	-	1	0	PNISR	99959260	1.000000	0.71417	0.998000	0.56505	0.694000	0.40290	7.346000	0.79347	1.271000	0.44313	-0.189000	0.12847	GAT		0.343	PNISR-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041598.1	NM_032870		T	99852539	C	T	99852539	3	4	703	1	0	0	0	0	1	0	0	0	14180	855	30	2	1391	2	SFRS18	6	99852539	Missense_Mutation	SNP	C	TCGA-KL-8334-01A-11D-2310-10	10998673	99852539	71262528	24	39102											
URGCP	55665	broad.mit.edu	37	7	43917145	43917146	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr7:43917145_43917146insC	ENST00000453200.1	-	6	2409_2410	c.1916_1917insG	c.(1915-1917)ggcfs	p.G639fs	URGCP_ENST00000443736.1_Frame_Shift_Ins_p.G596fs|URGCP_ENST00000402306.3_Frame_Shift_Ins_p.G630fs|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000447717.3_Frame_Shift_Ins_p.G596fs|URGCP_ENST00000223341.7_Frame_Shift_Ins_p.G596fs|URGCP_ENST00000336086.6_Frame_Shift_Ins_p.G596fs|URGCP-MRPS24_ENST00000603700.1_Intron			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	639					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						AACGCCTCTGGCCTGCCGGCAG	0.629																																																0																																										SO:0001589	frameshift_variant	55665				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.1917dupG	7.37:g.43917147_43917147dupC	ENSP00000396918:p.Gly639fs		E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Frame_Shift_Ins	INS	ENST00000453200.1	37	CCDS47578.1																																																																																				0.629	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338995.1	NM_001077664		C	43917146	-	C	43917145	7	5	703	1	0	1	1	0	0	0	0	0	17031	1190	42	0	882	0	URGCP	7	43917145	Frame_Shift_Ins	INS	-	TCGA-KL-8334-01A-11D-2310-10		43917145	115221518	25	39103											
KIAA1324L	222223	broad.mit.edu	37	7	86542297	86542297	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr7:86542297T>C	ENST00000450689.2	-	14	2140	c.1955A>G	c.(1954-1956)gAg>gGg	p.E652G	KIAA1324L_ENST00000297222.6_Missense_Mutation_p.E412G|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.E485G|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.R606G|KIAA1324L_ENST00000490995.1_5'Flank	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	652						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					AATACAAGCCTCTTTGCCATA	0.473																																																0													120	98	105					7																	86542297		2203	4300	6503	SO:0001583	missense	222223			AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"EIG121-like"	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.1955A>G	7.37:g.86542297T>C	ENSP00000413445:p.Glu652Gly		A4D1C9|B4DJV3|Q17RI6|Q96DP2	Missense_Mutation	SNP	ENST00000450689.2	37	CCDS47632.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.88|16.88	3.244237|3.244237	0.59103|0.59103	.|.	.|.	ENSG00000164659|ENSG00000164659	ENST00000450689;ENST00000297222;ENST00000416314|ENST00000444627	T;T;T|T	0.20738|0.18502	2.31;2.06;2.05|2.21	5.82|5.82	5.82|5.82	0.92795|0.92795	Growth factor, receptor (1);|.	0.091963|.	0.85682|.	D|.	0.000000|.	T|T	0.30541|0.30541	0.0768|0.0768	L|L	0.55834|0.55834	1.745|1.745	0.80722|0.80722	D|D	1|1	P;P;P|.	0.52316|.	0.936;0.952;0.952|.	P;P;P|.	0.49528|.	0.614;0.6;0.461|.	T|T	0.00770|0.00770	-1.1573|-1.1573	10|6	0.31617|.	T|.	0.26|.	.|.	15.3651|15.3651	0.74516|0.74516	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	652;412;485|.	A8MWY0;A8MWY0-2;B4DJV3|.	K132L_HUMAN;.;.|.	G|G	652;412;485|606	ENSP00000413445:E652G;ENSP00000297222:E412G;ENSP00000402390:E485G|ENSP00000397377:R606G	ENSP00000297222:E412G|.	E|R	-|-	2|1	0|2	KIAA1324L|KIAA1324L	86380233|86380233	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.951000|0.951000	0.60555|0.60555	7.499000|7.499000	0.81566|0.81566	2.222000|2.222000	0.72286|0.72286	0.533000|0.533000	0.62120|0.62120	GAG|AGG		0.473	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3	NM_152748		C	86542297	T	C	86542297	3	2	703	1	0	0	0	0	1	0	0	0	8226	1551	54	3	1170	3	KIAA1324L	7	86542297	Missense_Mutation	SNP	T	TCGA-KL-8334-01A-11D-2310-10	42625152	86542297	72596366	26	39104											
ZC3HAV1	56829	ucsc.edu	37	7	138794049	138794049	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr7:138794049A>G	ENST00000242351.5	-	1	345	c.29T>C	c.(28-30)aTc>aCc	p.I10T	ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.I10T|ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.I10T	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	10	N-terminal domain.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|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 mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						GATTTTGGTGATGAAGCAGCA	0.662																																																0													12	16	15					7																	138794049		2138	4262	6400	SO:0001583	missense	56829			BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939		"Zinc fingers, CCCH-type domain containing", "Poly (ADP-ribose) polymerases"	23721	protein-coding gene	gene with protein product	"zinc finger antiviral protein", " CCCH-type zinc finger antiviral protein"	607312				12215647, 12851707	Standard	NM_024625		Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.29T>C	7.37:g.138794049A>G	ENSP00000242351:p.Ile10Thr		A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Missense_Mutation	SNP	ENST00000242351.5	37	CCDS5851.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.594052	0.86953	.	.	ENSG00000105939	ENST00000242351;ENST00000464606;ENST00000471652	T;T;T	0.42900	0.96;0.96;0.96	4.63	4.63	0.57726	.	0.268964	0.26836	N	0.022257	T	0.57755	0.2075	M	0.71581	2.175	0.38353	D	0.944395	D;D	0.69078	0.992;0.997	P;P	0.61397	0.866;0.888	T	0.65800	-0.6080	10	0.87932	D	0	.	10.5908	0.45308	1.0:0.0:0.0:0.0	.	10;10	Q7Z2W4-2;Q7Z2W4	.;ZCCHV_HUMAN	T	10	ENSP00000242351:I10T;ENSP00000418385:I10T;ENSP00000419855:I10T	ENSP00000242351:I10T	I	-	2	0	ZC3HAV1	138444589	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.970000	0.63742	2.073000	0.62155	0.402000	0.26972	ATC		0.662	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348915.1	NM_020119		G	138794049	A	G	138794049	3	3	703	1	0	0	0	0	1	0	0	0	17580	333	12	3	2735	3	ZC3HAV1	7	138794049	Missense_Mutation	SNP	A	TCGA-KL-8334-01A-11D-2310-10	52251752	138794049	20344614	27	39105											
ASPN	54829	hgsc.bcm.edu	37	9	95237030	95237030	+	Missense_Mutation	SNP	A	A	C	rs143279922		TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr9:95237030A>C	ENST00000375544.3	-	2	393	c.150T>G	c.(148-150)gaT>gaG	p.D50E	ASPN_ENST00000450139.2_Missense_Mutation_p.D22E|CENPP_ENST00000375587.3_Intron|ASPN_ENST00000375543.1_Missense_Mutation_p.D50E|ASPN_ENST00000395538.3_Missense_Mutation_p.D50E	NM_017680.4	NP_060150	Q9BXN1	ASPN_HUMAN	asporin	50	Poly-Asp.				bone mineralization (GO:0030282)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						TGTCCtcatcatcatcatcat	0.398																																																0													112	102	105					9																	95237030		2203	4300	6503	SO:0001583	missense	54829			AF316824		9q22.31	2008-05-14	2007-02-15		ENSG00000106819	ENSG00000106819		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	14872	protein-coding gene	gene with protein product	"asporin proteoglycan"	608135	"asporin (LRR class 1)"				Standard	NM_017680		Approved	FLJ20129, SLRR1C, PLAP1	uc004ase.2	Q9BXN1	OTTHUMG00000020227	ENST00000375544.3:c.150T>G	9.37:g.95237030A>C	ENSP00000364694:p.Asp50Glu		Q5TBF3|Q96K79|Q96LD0|Q9NXP3	Missense_Mutation	SNP	ENST00000375544.3	37		.	.	.	.	.	.	.	.	.	.	A	2.759	-0.258312	0.05791	.	.	ENSG00000106819	ENST00000375544;ENST00000375543;ENST00000395538;ENST00000450139	T;T;T	0.52983	0.64;0.69;0.69	3.41	-5.95	0.02241	.	1.551710	0.03954	N	0.288946	T	0.32645	0.0836	L	0.40543	1.245	0.09310	N	1	B;B	0.32245	0.361;0.001	B;B	0.27380	0.079;0.001	T	0.11941	-1.0567	10	0.22109	T	0.4	.	7.6964	0.28598	0.4608:0.1193:0.4198:0.0	.	50;50	Q5TBF2;Q9BXN1	.;ASPN_HUMAN	E	50;50;50;22	ENSP00000364694:D50E;ENSP00000364693:D50E;ENSP00000378909:D50E	ENSP00000364693:D50E	D	-	3	2	ASPN	94276851	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-1.911000	0.01583	-2.152000	0.00794	-2.339000	0.00246	GAT		0.398	ASPN-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053094.1	NM_017680		C	95237030	A	C	95237030	3	2	703	1	0	0	0	0	1	0	0	0	1057	214	8	5	1020	5	ASPN	9	95237030	Missense_Mutation	SNP	A	TCGA-KL-8334-01A-11D-2310-10		95237030	45976401	28	39106											
KIAA1462	57608	ucsc.edu	37	10	30317404	30317404	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr10:30317404A>G	ENST00000375377.1	-	3	1774	c.1673T>C	c.(1672-1674)cTc>cCc	p.L558P		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	558					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						GAACTTTTTGAGCTTGGTTTG	0.468																																																0													100	102	101					10																	30317404		1887	4129	6016	SO:0001583	missense	57608			AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"junctional protein associated with coronary artery disease"	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.1673T>C	10.37:g.30317404A>G	ENSP00000364526:p.Leu558Pro		Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	ENST00000375377.1	37	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	A	16.56	3.158533	0.57368	.	.	ENSG00000165757	ENST00000375377	T	0.21734	1.99	5.62	4.48	0.54585	.	0.289920	0.33180	N	0.005195	T	0.29524	0.0736	M	0.69823	2.125	0.80722	D	1	P	0.46952	0.887	P	0.45406	0.479	T	0.06463	-1.0825	10	0.87932	D	0	-30.5916	11.3824	0.49766	0.9289:0.0:0.071:0.0	.	558	Q9P266	K1462_HUMAN	P	558	ENSP00000364526:L558P	ENSP00000364526:L558P	L	-	2	0	KIAA1462	30357410	1.000000	0.71417	0.761000	0.31378	0.596000	0.36781	4.584000	0.60971	0.962000	0.38057	0.459000	0.35465	CTC		0.468	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		G	30317404	A	G	30317404	3	3	703	1	0	0	0	0	1	0	0	0	8236	304	11	3	2414	3	KIAA1462	10	30317404	Missense_Mutation	SNP	A	TCGA-KL-8334-01A-11D-2310-10		30317404	105217343	29	39107											
CSGALNACT2	55454	broad.mit.edu	37	10	43659419	43659419	+	Missense_Mutation	SNP	G	G	T	rs79064394		TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr10:43659419G>T	ENST00000374466.3	+	5	1421	c.1086G>T	c.(1084-1086)ttG>ttT	p.L362F		NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	362					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050652)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)	p.L362F(5)		endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GAGAGGTCTTGATGTTTTTCT	0.433																																																5	Substitution - Missense(5)	endometrium(4)|kidney(1)											223	221	222					10																	43659419		2203	4300	6503	SO:0001583	missense	55454			AF116646	CCDS7201.1	10q11.21	2013-02-19			ENSG00000169826	ENSG00000169826		"Beta 4-glycosyltransferases"	24292	protein-coding gene	gene with protein product	"chondroitin beta1,4 N-acetylgalactosaminyltransferase 2"					12446672	Standard	NM_018590		Approved	GALNACT2, MGC40204, PRO0082, GALNACT-2	uc001jan.4	Q8N6G5	OTTHUMG00000018023	ENST00000374466.3:c.1086G>T	10.37:g.43659419G>T	ENSP00000363590:p.Leu362Phe		B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Missense_Mutation	SNP	ENST00000374466.3	37	CCDS7201.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.499782	0.85176	.	.	ENSG00000169826	ENST00000374466	T	0.27256	1.68	6.08	5.17	0.71159	.	0.064535	0.64402	D	0.000004	T	0.57359	0.2048	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63721	-0.6573	10	0.87932	D	0	-11.7375	14.8306	0.70146	0.0683:0.0:0.9317:0.0	.	362	Q8N6G5	CGAT2_HUMAN	F	362	ENSP00000363590:L362F	ENSP00000363590:L362F	L	+	3	2	CSGALNACT2	42979425	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.683000	0.37638	2.894000	0.99253	0.591000	0.81541	TTG		0.433	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047693.1	NM_018590		T	43659419	G	T	43659419	3	4	703	1	0	0	0	0	1	0	0	0	3941	1281	45	4	1100	4	CSGALNACT2	10	43659419	Missense_Mutation	SNP	G	TCGA-KL-8334-01A-11D-2310-10	13342015	43659419	91875328	30	39108											
UNC5B	219699	ucsc.edu	37	10	73044593	73044593	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr10:73044593A>G	ENST00000335350.6	+	3	837	c.421A>G	c.(421-423)Agt>Ggt	p.S141G	UNC5B_ENST00000373192.4_Missense_Mutation_p.S141G	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	141	Ig-like.				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						CACCACCAAGAGTCGCCGAGC	0.652																																																0													79	75	77					10																	73044593		2203	4300	6503	SO:0001583	missense	219699			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.421A>G	10.37:g.73044593A>G	ENSP00000334329:p.Ser141Gly		Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP	ENST00000335350.6	37	CCDS7309.1	.	.	.	.	.	.	.	.	.	.	A	28.7	4.938744	0.92526	.	.	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.24723	1.84;1.84	5.03	5.03	0.67393	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.53867	0.1823	M	0.82823	2.61	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.986	T	0.59963	-0.7355	10	0.54805	T	0.06	-11.1453	14.7589	0.69590	1.0:0.0:0.0:0.0	.	141;141	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	G	141	ENSP00000334329:S141G;ENSP00000362288:S141G	ENSP00000334329:S141G	S	+	1	0	UNC5B	72714599	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.339000	0.96797	1.880000	0.54463	0.454000	0.30748	AGT		0.652	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	NM_170744		G	73044593	A	G	73044593	3	3	703	1	0	0	0	0	1	0	0	0	16997	304	11	3	431	3	UNC5B	10	73044593	Missense_Mutation	SNP	A	TCGA-KL-8334-01A-11D-2310-10	29385174	73044593	62490154	31	39109											
GPAM	57678	broad.mit.edu	37	10	113933564	113933564	+	Missense_Mutation	SNP	G	G	T			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr10:113933564G>T	ENST00000348367.4	-	7	650	c.453C>A	c.(451-453)aaC>aaA	p.N151K	GPAM_ENST00000423155.1_Missense_Mutation_p.N151K|GPAM_ENST00000369425.1_Missense_Mutation_p.N151K			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	151					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|defense response to virus (GO:0051607)|fatty acid homeostasis (GO:0055089)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|interleukin-2 secretion (GO:0070970)|negative regulation of activation-induced cell death of T cells (GO:0070236)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of multicellular organism growth (GO:0040018)|regulation of cytokine secretion (GO:0050707)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		AACCATCAGGGTTTAATTCAG	0.393																																					Ovarian(161;1017 2606 18293 52943)											0													87	79	81					10																	113933564		2203	4300	6503	SO:0001583	missense	57678			AL832464	CCDS7570.1	10q25.3	2009-07-15			ENSG00000119927	ENSG00000119927			24865	protein-coding gene	gene with protein product	"glycerol-3-phosphate acyltransferase 1, mitochondrial"	602395				10997877, 8369314	Standard	NM_020918		Approved	KIAA1560, MGC26846, GPAT1	uc001kzp.3	Q9HCL2	OTTHUMG00000019055	ENST00000348367.4:c.453C>A	10.37:g.113933564G>T	ENSP00000265276:p.Asn151Lys		Q5VW51|Q86TA3	Missense_Mutation	SNP	ENST00000348367.4	37	CCDS7570.1	.	.	.	.	.	.	.	.	.	.	G	11.05	1.524672	0.27299	.	.	ENSG00000119927	ENST00000348367;ENST00000423155;ENST00000369425	T;T;T	0.67523	-0.27;-0.27;-0.27	6.02	-1.13	0.09775	.	0.206543	0.50627	D	0.000102	T	0.41534	0.1163	L	0.29908	0.895	0.19300	N	0.999979	B;B	0.26672	0.156;0.067	B;B	0.22386	0.039;0.027	T	0.36529	-0.9744	10	0.06099	T	0.92	-25.0851	6.8287	0.23897	0.6387:0.0:0.2374:0.1239	.	151;151	Q5VW52;Q9HCL2	.;GPAT1_HUMAN	K	151	ENSP00000265276:N151K;ENSP00000409242:N151K;ENSP00000358433:N151K	ENSP00000265276:N151K	N	-	3	2	GPAM	113923554	0.727000	0.28069	0.892000	0.35008	0.576000	0.36127	0.020000	0.13466	-0.375000	0.07955	-0.145000	0.13849	AAC		0.393	GPAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050377.1	NM_020918		T	113933564	G	T	113933564	3	4	703	1	0	0	0	0	1	0	0	0	6590	1252	44	4	2097	4	GPAM	10	113933564	Missense_Mutation	SNP	G	TCGA-KL-8334-01A-11D-2310-10	40888971	113933564	21601183	32	39110											
ATE1	11101	broad.mit.edu;bcgsc.ca	37	10	123596309	123596309	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr10:123596309A>G	ENST00000224652.6	-	10	1266	c.1181T>C	c.(1180-1182)cTt>cCt	p.L394P	ATE1_ENST00000543447.1_Missense_Mutation_p.L279P|ATE1_ENST00000535655.1_Missense_Mutation_p.L95P|ATE1_ENST00000369043.3_Missense_Mutation_p.L394P|ATE1_ENST00000369040.3_Missense_Mutation_p.L298P|ATE1_ENST00000540606.1_Missense_Mutation_p.L387P	NM_001001976.1	NP_001001976.1	O95260	ATE1_HUMAN	arginyltransferase 1	394					protein arginylation (GO:0016598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginyltransferase activity (GO:0004057)			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				TTTCTCATGAAGCTGCCTAGT	0.328																																																0													48	53	52					10																	123596309		2196	4293	6489	SO:0001583	missense	11101			AF079098	CCDS31299.1, CCDS31300.1, CCDS73211.1, CCDS73212.1, CCDS73213.1	10q26	2013-05-08			ENSG00000107669	ENSG00000107669	2.3.2.8		782	protein-coding gene	gene with protein product		607103				16002466, 16943202	Standard	XM_005269458		Approved		uc001lfq.3	O95260	OTTHUMG00000019178	ENST00000224652.6:c.1181T>C	10.37:g.123596309A>G	ENSP00000224652:p.Leu394Pro		O95261|Q5SQQ3|Q8WW04	Missense_Mutation	SNP	ENST00000224652.6	37	CCDS31300.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.504714	0.85176	.	.	ENSG00000107669	ENST00000369043;ENST00000535655;ENST00000224652;ENST00000369040;ENST00000540606;ENST00000543447	.	.	.	5.66	5.66	0.87406	Acyl-CoA N-acyltransferase (1);Arginine-tRNA-protein transferase, C-terminal (1);	0.000000	0.64402	D	0.000001	D	0.87585	0.6214	H	0.96048	3.76	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	D	0.91320	0.5081	9	0.66056	D	0.02	-7.6788	15.898	0.79350	1.0:0.0:0.0:0.0	.	387;298;394;394	F5GXE4;B4E107;O95260;O95260-2	.;.;ATE1_HUMAN;.	P	394;95;394;298;387;279	.	ENSP00000224652:L394P	L	-	2	0	ATE1	123586299	1.000000	0.71417	0.998000	0.56505	0.959000	0.62525	9.270000	0.95690	2.161000	0.67846	0.533000	0.62120	CTT		0.328	ATE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001001976		G	123596309	A	G	123596309	3	3	703	1	0	0	0	0	1	0	0	0	1078	72	3	3	387	3	ATE1	10	123596309	Missense_Mutation	SNP	A	TCGA-KL-8334-01A-11D-2310-10	9662745	123596309	11938438	33	39111											
MUC6	4588	bcgsc.ca	37	11	1016628	1016628	+	Missense_Mutation	SNP	G	G	A	rs202039948		TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr11:1016628G>A	ENST00000421673.2	-	31	6223	c.6173C>T	c.(6172-6174)aCc>aTc	p.T2058I		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2058	Thr-rich.				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)		GGCTGTGTGGGTGGACCCTGT	0.567																																																0													381	380	380					11																	1016628		2193	4287	6480	SO:0001583	missense	4588			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.6173C>T	11.37:g.1016628G>A	ENSP00000406861:p.Thr2058Ile		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.507954	0.44558	.	.	ENSG00000184956	ENST00000421673	T	0.19250	2.16	2.46	2.46	0.29980	.	.	.	.	.	T	0.20941	0.0504	L	0.50333	1.59	0.09310	N	1	D	0.56968	0.978	B	0.42738	0.396	T	0.10706	-1.0618	9	0.45353	T	0.12	.	11.0274	0.47753	0.0:0.0:1.0:0.0	.	2058	Q6W4X9	MUC6_HUMAN	I	2058	ENSP00000406861:T2058I	ENSP00000406861:T2058I	T	-	2	0	MUC6	1006628	0.007000	0.16637	0.002000	0.10522	0.226000	0.24999	1.358000	0.34102	1.716000	0.51395	0.313000	0.20887	ACC		0.567	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		A	1016628	G	A	1016628	3	1	703	1	0	0	0	0	1	0	0	0	9982	1261	44	2	1158	2	MUC6	11	1016628	Missense_Mutation	SNP	G	TCGA-KL-8334-01A-11D-2310-10		1016628	133989888	34	39112			1	73		5	5	1352	G		4.033653e-12
MUC6	4588	bcgsc.ca	37	11	1016662	1016662	+	Missense_Mutation	SNP	G	G	A	rs201489806		TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr11:1016662G>A	ENST00000421673.2	-	31	6189	c.6139C>T	c.(6139-6141)Cct>Tct	p.P2047S		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2047	Thr-rich.				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)		GTTGGTGGAGGAACGGTGCCT	0.572																																																0													524	490	502					11																	1016662		2200	4295	6495	SO:0001583	missense	4588			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.6139C>T	11.37:g.1016662G>A	ENSP00000406861:p.Pro2047Ser		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	6.404	0.442648	0.12164	.	.	ENSG00000184956	ENST00000421673	T	0.18810	2.19	3.12	-2.06	0.07298	.	.	.	.	.	T	0.10809	0.0264	L	0.33485	1.01	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.40553	-0.9557	9	0.11485	T	0.65	.	2.5371	0.04716	0.2087:0.142:0.5053:0.144	.	2047	Q6W4X9	MUC6_HUMAN	S	2047	ENSP00000406861:P2047S	ENSP00000406861:P2047S	P	-	1	0	MUC6	1006662	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.038000	0.13862	-1.027000	0.03325	-1.786000	0.00637	CCT		0.572	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		A	1016662	G	A	1016662	3	1	703	1	0	0	0	0	1	0	0	0	9982	1174	41	2	1192	2	MUC6	11	1016662	Missense_Mutation	SNP	G	TCGA-KL-8334-01A-11D-2310-10	34	1016662	133989854	35	39113			1	73		5	5	1352	G		4.033653e-12
MUC6	4588	mdanderson.org	37	11	1017022	1017022	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr11:1017022G>A	ENST00000421673.2	-	31	5829	c.5779C>T	c.(5779-5781)Cat>Tat	p.H1927Y		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1927	Approximate repeats.|Thr-rich.				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)		ACTTCAGGATGGTGTGTTGAG	0.557																																																0													680	683	682					11																	1017022		2201	4285	6486	SO:0001583	missense	4588			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.5779C>T	11.37:g.1017022G>A	ENSP00000406861:p.His1927Tyr		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	0.512	-0.865870	0.02590	.	.	ENSG00000184956	ENST00000421673	T	0.25579	1.79	3.05	-0.616	0.11583	.	.	.	.	.	T	0.14013	0.0339	L	0.29908	0.895	0.09310	N	1	B	0.13145	0.007	B	0.08055	0.003	T	0.28459	-1.0043	9	0.30078	T	0.28	.	2.386	0.04365	0.1202:0.3607:0.3491:0.17	.	1927	Q6W4X9	MUC6_HUMAN	Y	1927	ENSP00000406861:H1927Y	ENSP00000406861:H1927Y	H	-	1	0	MUC6	1007022	0.000000	0.05858	0.000000	0.03702	0.061000	0.15899	0.407000	0.21049	-0.244000	0.09639	0.313000	0.20887	CAT		0.557	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		A	1017022	G	A	1017022	3	1	703	1	0	0	0	0	1	0	0	0	9982	1348	47	2	1552	2	MUC6	11	1017022	Missense_Mutation	SNP	G	TCGA-KL-8334-01A-11D-2310-10	360	1017022	133989494	36	39114			1	73		5	5	1352	G		4.033653e-12
MUC6	4588	mdanderson.org	37	11	1017543	1017543	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr11:1017543G>A	ENST00000421673.2	-	31	5308	c.5258C>T	c.(5257-5259)aCt>aTt	p.T1753I		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1753	Approximate repeats.|Thr-rich.				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)		TGTGGAGGAAGTGTGTGAATG	0.552																																																0													834	785	802					11																	1017543		2201	4293	6494	SO:0001583	missense	4588			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.5258C>T	11.37:g.1017543G>A	ENSP00000406861:p.Thr1753Ile		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	-	9.616	1.132522	0.21041	.	.	ENSG00000184956	ENST00000421673	T	0.21361	2.01	3.07	2.14	0.27477	.	.	.	.	.	T	0.24314	0.0589	N	0.24115	0.695	0.09310	N	1	D	0.59357	0.985	D	0.63488	0.915	T	0.07986	-1.0744	9	0.51188	T	0.08	.	4.2562	0.10719	0.133:0.0:0.6424:0.2245	.	1753	Q6W4X9	MUC6_HUMAN	I	1753	ENSP00000406861:T1753I	ENSP00000406861:T1753I	T	-	2	0	MUC6	1007543	0.040000	0.19996	0.001000	0.08648	0.079000	0.17450	2.410000	0.44592	0.585000	0.29608	0.313000	0.20887	ACT		0.552	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		A	1017543	G	A	1017543	3	1	703	1	0	0	0	0	1	0	0	0	9982	1029	36	2	2073	2	MUC6	11	1017543	Missense_Mutation	SNP	G	TCGA-KL-8334-01A-11D-2310-10	521	1017543	133988973	37	39115			1	73		5	5	1352	G		4.033653e-12
MUC6	4588	mdanderson.org	37	11	1017979	1017979	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr11:1017979G>A	ENST00000421673.2	-	31	4872	c.4822C>T	c.(4822-4824)Cct>Tct	p.P1608S		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1608	Approximate repeats.|Pro-rich.|Thr-rich.				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)		GTGGTCTGAGGGTGTGATGGG	0.552																																																0													468	437	448					11																	1017979		2186	4278	6464	SO:0001583	missense	4588			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.4822C>T	11.37:g.1017979G>A	ENSP00000406861:p.Pro1608Ser		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	5.477	0.273094	0.10349	.	.	ENSG00000184956	ENST00000421673	T	0.24538	1.85	2.39	0.275	0.15659	.	.	.	.	.	T	0.22936	0.0554	M	0.62723	1.935	0.09310	N	1	B	0.33135	0.399	B	0.33042	0.157	T	0.18777	-1.0326	9	0.45353	T	0.12	.	4.8879	0.13712	0.1334:0.0:0.6602:0.2064	.	1608	Q6W4X9	MUC6_HUMAN	S	1608	ENSP00000406861:P1608S	ENSP00000406861:P1608S	P	-	1	0	MUC6	1007979	0.004000	0.15560	0.001000	0.08648	0.024000	0.10985	-0.105000	0.10907	-0.082000	0.12640	-0.707000	0.03653	CCT		0.552	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		A	1017979	G	A	1017979	3	1	703	1	0	0	0	0	1	0	0	0	9982	1232	43	2	2509	2	MUC6	11	1017979	Missense_Mutation	SNP	G	TCGA-KL-8334-01A-11D-2310-10	436	1017979	133988537	38	39116			1	73		5	5	1352	G		4.033653e-12
TH	7054	broad.mit.edu	37	11	2186902	2186902	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr11:2186902A>G	ENST00000381178.1	-	12	1307	c.1289T>C	c.(1288-1290)cTc>cCc	p.L430P	TH_ENST00000352909.3_Missense_Mutation_p.L399P|TH_ENST00000381175.1_Missense_Mutation_p.L426P|TH_ENST00000333684.5_Missense_Mutation_p.L309P	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	430					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)	TCTCACCAGGAGCTCCCCGTA	0.662																																																0													51	50	51					11																	2186902		2200	4297	6497	SO:0001583	missense	7054			X05290	CCDS7730.1, CCDS7731.1, CCDS31338.1	11p15.5	2013-06-03			ENSG00000180176	ENSG00000180176	1.14.16.2		11782	protein-coding gene	gene with protein product	"tyrosine 3-monooxygenase"	191290					Standard	NM_199292		Approved	DYT5b	uc001lvq.3	P07101	OTTHUMG00000009559	ENST00000381178.1:c.1289T>C	11.37:g.2186902A>G	ENSP00000370571:p.Leu430Pro		B7ZL70|B7ZL73|Q0PWM2|Q0PWM3|Q15585|Q15588|Q15589|Q2M3B4	Missense_Mutation	SNP	ENST00000381178.1	37	CCDS7731.1	.	.	.	.	.	.	.	.	.	.	A	15.01	2.705500	0.48412	.	.	ENSG00000180176	ENST00000381178;ENST00000381175;ENST00000352909;ENST00000333684	D;D;D;D	0.99807	-6.85;-6.85;-6.85;-6.85	4.03	2.78	0.32641	Aromatic amino acid hydroxylase, C-terminal (4);	0.000000	0.64402	D	0.000001	D	0.99764	0.9904	M	0.93763	3.455	0.58432	D	0.999995	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.999;0.999;0.999;1.0;0.999	D	0.97556	1.0095	10	0.87932	D	0	5.1889	9.5303	0.39189	0.823:0.177:0.0:0.0	.	403;309;305;399;430;426	B7ZL73;Q0PWM2;Q0PWM3;P07101-3;P07101;P07101-2	.;.;.;.;TY3H_HUMAN;.	P	430;426;399;309	ENSP00000370571:L430P;ENSP00000370567:L426P;ENSP00000325951:L399P;ENSP00000328814:L309P	ENSP00000328814:L309P	L	-	2	0	TH	2143478	1.000000	0.71417	0.998000	0.56505	0.080000	0.17528	7.030000	0.76484	1.603000	0.50134	0.402000	0.26972	CTC		0.662	TH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026597.1	NM_000360		G	2186902	A	G	2186902	3	3	703	1	0	0	0	0	1	0	0	0	15843	304	11	3	309	3	TH	11	2186902	Missense_Mutation	SNP	A	TCGA-KL-8334-01A-11D-2310-10	1168923	2186902	132819614	39	39117											
TMEM132A	54972	ucsc.edu	37	11	60701218	60701218	+	Splice_Site	SNP	T	T	C			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr11:60701218T>C	ENST00000453848.2	+	8	1717		c.e8+2		TMEM132A_ENST00000005286.4_Splice_Site			Q24JP5	T132A_HUMAN	transmembrane protein 132A							endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						TGCTGAAGGGTGAGTGGAGGC	0.672																																																0													9	8	8					11																	60701218		2174	4249	6423	SO:0001630	splice_region_variant	54972			AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.1559+2T>C	11.37:g.60701218T>C			Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Splice_Site	SNP	ENST00000453848.2	37	CCDS44618.1	.	.	.	.	.	.	.	.	.	.	T	14.66	2.603215	0.46423	.	.	ENSG00000006118	ENST00000444690;ENST00000453848;ENST00000005286;ENST00000536409	.	.	.	4.38	4.38	0.52667	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5458	0.56199	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	TMEM132A	60457794	1.000000	0.71417	1.000000	0.80357	0.672000	0.39443	1.573000	0.36472	1.909000	0.55274	0.528000	0.53228	.		0.672	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396352.1	NM_017870	Intron	C	60701218	T	C	60701218	5	2	703	1	0	0	0	0	0	0	1	0	16050	1710	59	3	1594	3	TMEM132A	11	60701218	Splice_Site	SNP	T	TCGA-KL-8334-01A-11D-2310-10	58514316	60701218	74305298	40	39118											
RSF1	51773	broad.mit.edu	37	11	77409663	77409663	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr11:77409663T>C	ENST00000308488.6	-	7	2886	c.2584A>G	c.(2584-2586)Agt>Ggt	p.S862G	RSF1_ENST00000480887.1_Missense_Mutation_p.S610G|RSF1_ENST00000360355.2_Missense_Mutation_p.S831G			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	862					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)			GACCCTTCACTTTCATCATTG	0.418																																																0													159	151	154					11																	77409663		2200	4292	6492	SO:0001583	missense	51773			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.2584A>G	11.37:g.77409663T>C	ENSP00000311513:p.Ser862Gly		Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Missense_Mutation	SNP	ENST00000308488.6	37	CCDS8253.1	.	.	.	.	.	.	.	.	.	.	T	18.28	3.590084	0.66105	.	.	ENSG00000048649	ENST00000308488;ENST00000480887;ENST00000360355;ENST00000526324	D;D;D;D	0.86497	-2.08;-2.09;-2.07;-2.13	4.68	4.68	0.58851	Zinc finger, FYVE/PHD-type (1);	0.000000	0.64402	D	0.000013	T	0.79375	0.4435	L	0.29908	0.895	0.37258	D	0.906843	P	0.44734	0.842	B	0.36959	0.237	D	0.83999	0.0342	10	0.49607	T	0.09	-11.6966	14.2598	0.66078	0.0:0.0:0.0:1.0	.	862	Q96T23	RSF1_HUMAN	G	862;610;831;663	ENSP00000311513:S862G;ENSP00000434509:S610G;ENSP00000353511:S831G;ENSP00000432022:S663G	ENSP00000311513:S862G	S	-	1	0	RSF1	77087311	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.058000	0.64300	2.086000	0.62901	0.482000	0.46254	AGT		0.418	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318075.2	NM_016578		C	77409663	T	C	77409663	3	2	703	1	0	0	0	0	1	0	0	0	13705	1609	56	3	1781	3	RSF1	11	77409663	Missense_Mutation	SNP	T	TCGA-KL-8334-01A-11D-2310-10	16708445	77409663	57596853	41	39119											
PPP2R1B	5519	broad.mit.edu	37	11	111637006	111637007	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr11:111637006_111637007insC	ENST00000527614.1	-	1	144_145	c.79_80insG	c.(79-81)gttfs	p.V27fs	RP11-108O10.2_ENST00000529841.1_lincRNA|PPP2R1B_ENST00000311129.5_Frame_Shift_Ins_p.V27fs|PPP2R1B_ENST00000341980.6_Frame_Shift_Ins_p.V27fs|PPP2R1B_ENST00000426998.2_Frame_Shift_Ins_p.V27fs|PPP2R1B_ENST00000427203.2_5'UTR|PPP2R1B_ENST00000393055.2_Frame_Shift_Ins_p.V27fs	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	27					apoptotic process involved in morphogenesis (GO:0060561)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)	extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-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)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		GTCGATTAAAACCGCGATCGGG	0.629																																																0																																										SO:0001589	frameshift_variant	5519			AF087438	CCDS8348.1, CCDS8349.1, CCDS53706.1, CCDS53707.1, CCDS53708.1	11q23.1	2010-06-18	2010-04-14		ENSG00000137713	ENSG00000137713	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9303	protein-coding gene	gene with protein product	"PP2A-A-beta", "protein phosphatase 2A, regulatory subunit A, beta isoform"	603113	"protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), beta isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit A, beta isoform"			2159327, 9795170	Standard	NM_181699		Approved	PR65B, PP2A-Abeta	uc001plw.1	P30154	OTTHUMG00000166741	ENST00000527614.1:c.80dupG	11.37:g.111637008_111637008dupC	ENSP00000437193:p.Val27fs		A8MY67|B0YJ69|B4DGQ6|B4DK91|B4DWW5|F8W8G1|O75620|Q8NHV8	Frame_Shift_Ins	INS	ENST00000527614.1	37	CCDS8349.1																																																																																				0.629	PPP2R1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391298.1	NM_002716		C	111637007	-	C	111637006	7	5	703	1	0	1	1	0	0	0	0	0	12388	43	2	0	2008	0	PPP2R1B	11	111637006	Frame_Shift_Ins	INS	-	TCGA-KL-8334-01A-11D-2310-10	34227343	111637006	23369510	42	39120											
A2M	2	broad.mit.edu	37	12	9242558	9242558	+	Silent	SNP	C	C	T			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr12:9242558C>T	ENST00000318602.7	-	21	2965	c.2658G>A	c.(2656-2658)gaG>gaA	p.E886E		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	886					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)	CTGAAGGCACCTCAGTCCCAC	0.413													C|||	1	0.000199681	0.0	0.0	5008	,	,		-128	0.0		0.0	False		,,,				2504	0.001															0													94	94	94					12																	9242558		1914	4121	6035	SO:0001819	synonymous_variant	2			BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.2658G>A	12.37:g.9242558C>T			Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Silent	SNP	ENST00000318602.7	37	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.527696	0.00959	.	.	ENSG00000175899	ENST00000543436	.	.	.	5.68	-0.311	0.12761	.	.	.	.	.	T	0.51702	0.1690	.	.	.	0.41759	D	0.989704	.	.	.	.	.	.	T	0.38650	-0.9651	4	.	.	.	.	6.7089	0.23266	0.0:0.4781:0.1145:0.4074	.	.	.	.	K	134	.	.	R	-	2	0	A2M	9133825	0.000000	0.05858	0.013000	0.15412	0.013000	0.08279	-0.202000	0.09451	-0.356000	0.08187	-0.140000	0.14226	AGG		0.413	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		T	9242558	C	T	9242558	2	4	703	1	0	0	0	0	0	0	0	1	4	680	24	2		2	A2M	12	9242558	Silent	SNP	C	TCGA-KL-8334-01A-11D-2310-10		9242558	124609337	43	39121											
TAS2R30	259293	mdanderson.org	37	12	11286276	11286276	+	Missense_Mutation	SNP	G	G	C			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr12:11286276G>C	ENST00000539585.1	-	1	967	c.568C>G	c.(568-570)Ctg>Gtg	p.L190V	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_001097643.1	NP_001091112.1	P59541	T2R30_HUMAN	taste receptor, type 2, member 30	190					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)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						ATCAGGGTCAGAGTGAGGGGT	0.418																																																0													189	200	196					12																	11286276		2203	4300	6503	SO:0001583	missense	259293			AX097746, AF494233	CCDS53750.1	12p13.2	2012-08-22				ENSG00000256188		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	19112	protein-coding gene	gene with protein product		613963	"taste receptor, type 2, member 47"	TAS2R47			Standard	NM_001097643		Approved	T2R30	uc009zhs.1	P59541		ENST00000539585.1:c.568C>G	12.37:g.11286276G>C	ENSP00000444736:p.Leu190Val		Q645X7	Missense_Mutation	SNP	ENST00000539585.1	37	CCDS53750.1	.	.	.	.	.	.	.	.	.	.	-	1.203	-0.632049	0.03584	.	.	ENSG00000256188	ENST00000539585	T	0.00700	5.82	2.6	-4.69	0.03299	.	.	.	.	.	T	0.00724	0.0024	L	0.39245	1.2	0.09310	N	1	B	0.09022	0.002	B	0.20384	0.029	T	0.41893	-0.9483	9	0.27082	T	0.32	.	5.8078	0.18450	0.1714:0.0:0.5788:0.2498	.	190	P59541	T2R30_HUMAN	V	190	ENSP00000444736:L190V	ENSP00000444736:L190V	L	-	1	2	TAS2R30	11177543	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.309000	0.08145	-0.577000	0.05967	-0.698000	0.03680	CTG		0.418	TAS2R30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400238.1	NM_001097643		C	11286276	G	C	11286276	3	2	703	1	0	0	0	0	1	0	0	0	15578	933	33	4	395	4	TAS2R30	12	11286276	Missense_Mutation	SNP	G	TCGA-KL-8334-01A-11D-2310-10	2043718	11286276	122565619	44	39122											
SLCO1C1	53919	mdanderson.org	37	12	20905250	20905250	+	Silent	SNP	C	C	T	rs6487138	byFrequency	TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr12:20905250C>T	ENST00000266509.2	+	15	2295	c.1927C>T	c.(1927-1929)Ctg>Ttg	p.L643L	SLCO1C1_ENST00000545604.1_Missense_Mutation_p.S677F|SLCO1C1_ENST00000540354.1_Silent_p.L594L|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.S559F|SLCO1C1_ENST00000381552.1_Missense_Mutation_p.S677F	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	643					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	ACATATATATCTGGGACTAAC	0.299													C|||	2351	0.469449	0.2012	0.5677	5008	,	,		17354	0.5923		0.495	False		,,,				2504	0.6094															0								C	PHE/SER,,PHE/SER,	1092,3312	370.3+/-319.5	138,816,1248	41	41	41		1676,1780,2030,1927	5.4	1	12	dbSNP_116	41	4649,3947	591.6+/-392.9	1248,2153,897	yes	missense,coding-synonymous,missense,coding-synonymous	SLCO1C1	NM_001145944.1,NM_001145945.1,NM_001145946.1,NM_017435.4	155,,155,	1386,2969,2145	TT,TC,CC		45.9167,24.7956,44.1615	,,,	559/613,594/664,677/731,643/713	20905250	5741,7259	2202	4298	6500	SO:0001819	synonymous_variant	53919			AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"Solute carriers"	13819	protein-coding gene	gene with protein product		613389	"solute carrier family 21 (organic anion transporter), member 14"	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.1927C>T	12.37:g.20905250C>T			B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	ENST00000266509.2	37	CCDS8683.1	1046	0.47893772893772896	110	0.22357723577235772	192	0.5303867403314917	358	0.6258741258741258	386	0.5092348284960422	C	16.43	3.120305	0.56613	0.247956	0.540833	ENSG00000139155	ENST00000545604;ENST00000381552;ENST00000545102	T;T;T	0.39997	1.05;1.05;1.11	5.37	5.37	0.77165	.	2.483440	0.01020	N	0.003979	T	0.00012	0.0000	.	.	.	0.31879	P	0.618765	P;P	0.51537	0.946;0.91	P;P	0.55999	0.789;0.498	T	0.46275	-0.9203	8	0.59425	D	0.04	.	16.1483	0.81586	0.0:1.0:0.0:0.0	rs6487138	559;677	F5GZD6;Q5JPA4	.;.	F	677;677;559	ENSP00000444149:S677F;ENSP00000370964:S677F;ENSP00000444527:S559F	ENSP00000370964:S677F	S	+	2	0	SLCO1C1	20796517	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.654000	0.46699	2.797000	0.96272	0.655000	0.94253	TCT		0.299	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435		T	20905250	C	T	20905250	2	4	703	1	0	0	0	0	0	0	0	1	14731	913	32	2		2	SLCO1C1	12	20905250	Silent	SNP	C	TCGA-KL-8334-01A-11D-2310-10	9618974	20905250	112946645	45	39123											
ANKS1B	56899	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	12	100377920	100377920	+	Silent	SNP	G	G	A			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr12:100377920G>A	ENST00000547776.2	-	1	95	c.96C>T	c.(94-96)ggC>ggT	p.G32G	ANKS1B_ENST00000329257.7_Silent_p.G32G|ANKS1B_ENST00000547010.1_5'UTR	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	32						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CGGATCCACCGCCCAGGATCC	0.572																																																0													71	80	77					12																	100377920		1968	4131	6099	SO:0001819	synonymous_variant	56899			AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.96C>T	12.37:g.100377920G>A			A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Silent	SNP	ENST00000547776.2	37	CCDS55872.1																																																																																				0.572	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140		A	100377920	G	A	100377920	2	1	703	1	0	0	0	0	0	0	0	1	689	1074	38	1		1	ANKS1B	12	100377920	Silent	SNP	G	TCGA-KL-8334-01A-11D-2310-10	79472670	100377920	33473975	46	39124											
FNDC3A	22862	broad.mit.edu	37	13	49719943	49719943	+	Silent	SNP	A	A	G			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr13:49719943A>G	ENST00000492622.2	+	8	1154	c.849A>G	c.(847-849)gtA>gtG	p.V283V	FNDC3A_ENST00000541916.1_Silent_p.V283V|FNDC3A_ENST00000398316.3_Silent_p.V227V	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	283	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		GGACAGTAGTACTTACCTGGT	0.383																																																0													116	108	111					13																	49719943		2203	4300	6503	SO:0001819	synonymous_variant	22862			AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"Fibronectin type III domain containing"	20296	protein-coding gene	gene with protein product		615794	"fibronectin type III domain containing 3"	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.849A>G	13.37:g.49719943A>G			B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Silent	SNP	ENST00000492622.2	37	CCDS41886.1																																																																																				0.383	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2	NM_014923		G	49719943	A	G	49719943	2	3	703	1	0	0	0	0	0	0	0	1	5971	378	14	3		3	FNDC3A	13	49719943	Silent	SNP	A	TCGA-KL-8334-01A-11D-2310-10		49719943	65449935	47	39125											
MYH6	4624	broad.mit.edu	37	14	23871766	23871766	+	Missense_Mutation	SNP	C	C	A	rs200260629	byFrequency	TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr14:23871766C>A	ENST00000356287.3	-	11	1077	c.1048G>T	c.(1048-1050)Gtc>Ttc	p.V350F	MYH6_ENST00000405093.3_Missense_Mutation_p.V350F			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	350	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)		AGCTTGTAGACGCCAGCTTTC	0.612																																																0													113	106	108					14																	23871766		2203	4300	6503	SO:0001583	missense	4624			D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"Myosins / Myosin superfamily : Class II"	7576	protein-coding gene	gene with protein product	"cardiomyopathy, hypertrophic 1"	160710	"myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.1048G>T	14.37:g.23871766C>A	ENSP00000348634:p.Val350Phe		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	.	15.63	2.891589	0.52014	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.89552	-2.53;-2.53	3.82	1.83	0.25207	Myosin head, motor domain (2);	.	.	.	.	D	0.92264	0.7546	M	0.90252	3.1	0.33668	D	0.610552	P;P	0.35124	0.485;0.485	P;P	0.46510	0.519;0.519	D	0.92436	0.5958	9	0.87932	D	0	.	7.8698	0.29558	0.0:0.6811:0.0:0.3189	.	350;350	D9YZU2;P13533	.;MYH6_HUMAN	F	350	ENSP00000386041:V350F;ENSP00000348634:V350F	ENSP00000348634:V350F	V	-	1	0	MYH6	22941606	0.001000	0.12720	0.161000	0.22692	0.966000	0.64601	-0.073000	0.11468	0.182000	0.20032	0.305000	0.20034	GTC		0.612	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			A	23871766	C	A	23871766	3	1	703	1	0	0	0	0	1	0	0	0	10040	536	19	4	4883	4	MYH6	14	23871766	Missense_Mutation	SNP	C	TCGA-KL-8334-01A-11D-2310-10		23871766	83477774	48	39126											
C14orf1	11161	broad.mit.edu	37	14	76118234	76118234	+	Splice_Site	SNP	T	T	C			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr14:76118234T>C	ENST00000256319.6	-	4	670		c.e4-2		FLVCR2_ENST00000553587.1_Intron|FLVCR2_ENST00000556241.1_Intron	NM_007176.3	NP_009107.1	Q9UKR5	ERG28_HUMAN	chromosome 14 open reading frame 1						sterol biosynthetic process (GO:0016126)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	6		all_epithelial(191;0.125)|all_neural(303;0.13)|Myeloproliferative disorder(585;0.163)		BRCA - Breast invasive adenocarcinoma(234;0.00147)		TGATAGAGCCTATAAGGAAGC	0.458																																																0													98	98	98					14																	76118234		2203	4300	6503	SO:0001630	splice_region_variant	11161			AF134159	CCDS9845.1	14q24.3	2012-08-16			ENSG00000133935	ENSG00000133935			1187	protein-coding gene	gene with protein product		604576				10449901, 12958361, 11160377	Standard	NM_007176		Approved	NET51, ERG28	uc001xrt.3	Q9UKR5	OTTHUMG00000171488	ENST00000256319.6:c.225-2A>G	14.37:g.76118234T>C			Q9P093|Q9UPI2	Splice_Site	SNP	ENST00000256319.6	37	CCDS9845.1	.	.	.	.	.	.	.	.	.	.	T	16.08	3.022922	0.54683	.	.	ENSG00000133935	ENST00000256319	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.638	0.76970	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	C14orf1	75187987	1.000000	0.71417	0.932000	0.37286	0.477000	0.33069	7.624000	0.83124	2.172000	0.68678	0.533000	0.62120	.		0.458	C14orf1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413683.1	NM_007176	Intron	C	76118234	T	C	76118234	5	2	703	1	0	0	0	0	0	0	1	0	1735	1536	53	3	207	3	C14orf1	14	76118234	Splice_Site	SNP	T	TCGA-KL-8334-01A-11D-2310-10	52246468	76118234	31231306	49	39127											
LCMT2	9836	ucsc.edu	37	15	43622621	43622621	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr15:43622621T>C	ENST00000305641.5	-	1	182	c.67A>G	c.(67-69)Agc>Ggc	p.S23G	LCMT2_ENST00000567039.1_Missense_Mutation_p.S23G|LCMT2_ENST00000544735.1_5'UTR|ADAL_ENST00000389651.4_5'Flank|ADAL_ENST00000428046.3_5'Flank|ADAL_ENST00000422466.2_5'Flank	NM_014793.4	NP_055608.2	O60294	TYW4_HUMAN	leucine carboxyl methyltransferase 2	23					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		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;8.1e-07)	L-Leucine(DB00149)	GAACGCTTGCTGAGGGCGCTG	0.692																																																0													18	21	20					15																	43622621		2116	4131	6247	SO:0001583	missense	9836			AF265443	CCDS10094.1	15q15.3	2007-01-26			ENSG00000168806	ENSG00000168806			17558	protein-coding gene	gene with protein product	"tRNA-yW synthesizing protein 4"	611246				9628581, 17150819	Standard	NM_014793		Approved	KIAA0547, MGC9534, TYW4, PPM2	uc001zrg.3	O60294	OTTHUMG00000130705	ENST00000305641.5:c.67A>G	15.37:g.43622621T>C	ENSP00000307214:p.Ser23Gly		Q4JFT6|Q96B55|Q9NR10	Missense_Mutation	SNP	ENST00000305641.5	37	CCDS10094.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.696451	0.88830	.	.	ENSG00000168806	ENST00000305641	T	0.25414	1.8	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.55878	0.1948	M	0.88842	2.985	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.62699	-0.6799	10	0.59425	D	0.04	.	12.0108	0.53286	0.0:0.0:0.0:1.0	.	23	O60294	LCMT2_HUMAN	G	23	ENSP00000307214:S23G	ENSP00000307214:S23G	S	-	1	0	LCMT2	41409913	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.541000	0.67212	2.333000	0.79357	0.533000	0.62120	AGC		0.692	LCMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253205.1	NM_014793		C	43622621	T	C	43622621	3	2	703	1	0	0	0	0	1	0	0	0	8681	1580	55	3	1997	3	LCMT2	15	43622621	Missense_Mutation	SNP	T	TCGA-KL-8334-01A-11D-2310-10		43622621	58908771	50	39128											
ADAMTS7	11173	broad.mit.edu;hgsc.bcm.edu	37	15	79060504	79060504	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr15:79060504delC	ENST00000388820.4	-	17	2826	c.2616delG	c.(2614-2616)aggfs	p.R872fs	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																																																0													22	23	23					15																	79060504		2190	4289	6479	SO:0001589	frameshift_variant	11173			AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"ADAM metallopeptidases with thrombospondin type 1 motif"	223	protein-coding gene	gene with protein product	"COMPase", "a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"	605009	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.2616delG	15.37:g.79060504delC	ENSP00000373472:p.Arg872fs		Q14F51|Q6P7J9	Frame_Shift_Del	DEL	ENST00000388820.4	37	CCDS32303.1																																																																																				0.697	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		-	79060504	C	-	79060504	7	5	703	1	0	1	0	1	0	0	0	0	271	854	30	0	2476	0	ADAMTS7	15	79060504	Frame_Shift_Del	DEL	C	TCGA-KL-8334-01A-11D-2310-10	35437883	79060504	23470888	51	39129	316	2									
ADAMTS7	11173	bcgsc.ca	37	15	79060505	79060505	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr15:79060505delC	ENST00000388820.4	-	17	2825	c.2615delG	c.(2614-2616)aggfs	p.R872fs	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						GCTGCACTTCCTCTGTTGGTC	0.697																																																0													22	23	23					15																	79060505		2191	4289	6480	SO:0001589	frameshift_variant	11173			AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"ADAM metallopeptidases with thrombospondin type 1 motif"	223	protein-coding gene	gene with protein product	"COMPase", "a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"	605009	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.2615delG	15.37:g.79060505delC	ENSP00000373472:p.Arg872fs		Q14F51|Q6P7J9	Frame_Shift_Del	DEL	ENST00000388820.4	37	CCDS32303.1																																																																																				0.697	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		-	79060505	C	-	79060505	7	5	703	1	0	1	0	1	0	0	0	0	271	681	24	0	2477	0	ADAMTS7	15	79060505	Frame_Shift_Del	DEL	C	TCGA-KL-8334-01A-11D-2310-10	1	79060505	23470887	52	39130	316	2									
DECR2	26063	ucsc.edu	37	16	461365	461365	+	Silent	SNP	C	C	T			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr16:461365C>T	ENST00000219481.5	+	8	804	c.666C>T	c.(664-666)ggC>ggT	p.G222G	DECR2_ENST00000424398.2_Silent_p.G210G|DECR2_ENST00000461947.1_Intron	NM_020664.3	NP_065715.1	Q9NUI1	DECR2_HUMAN	2,4-dienoyl CoA reductase 2, peroxisomal	222					unsaturated fatty acid biosynthetic process (GO:0006636)	peroxisomal membrane (GO:0005778)	2,4-dienoyl-CoA reductase (NADPH) activity (GO:0008670)|receptor binding (GO:0005102)|trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)	9		Hepatocellular(16;0.00015)				CTCCAGGTGGCCCTCAGGCCA	0.672																																																0													31	34	33					16																	461365		2202	4298	6500	SO:0001819	synonymous_variant	26063			AJ293009	CCDS10409.1	16p13.3	2011-09-14			ENSG00000242612	ENSG00000242612	1.3.1.34	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	2754	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 17C, member 1"	615839				11514237, 19027726	Standard	NM_020664		Approved	PDCR, SDR17C1	uc002chb.3	Q9NUI1	OTTHUMG00000047846	ENST00000219481.5:c.666C>T	16.37:g.461365C>T			Q6ZRS7|Q96ET0	Silent	SNP	ENST00000219481.5	37	CCDS10409.1																																																																																				0.672	DECR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109069.4	NM_020664		T	461365	C	T	461365	2	4	703	1	0	0	0	0	0	0	0	1	4385	726	26	2		2	DECR2	16	461365	Silent	SNP	C	TCGA-KL-8334-01A-11D-2310-10		461365	89893388	53	39131											
TBC1D24	57465	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	16	2547069	2547069	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr16:2547069A>G	ENST00000293970.5	+	2	1053	c.920A>G	c.(919-921)aAt>aGt	p.N307S	RP11-20I23.1_ENST00000564543.1_Missense_Mutation_p.N307S|TBC1D24_ENST00000567020.1_Missense_Mutation_p.N307S|TBC1D24_ENST00000434757.2_Missense_Mutation_p.N307S	NM_001199107.1	NP_001186036.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	307					neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|terminal bouton (GO:0043195)	Rab GTPase activator activity (GO:0005097)			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						CAGATGGCCAATGAGAAAGCC	0.617																																																0													45	51	49					16																	2547069		2102	4232	6334	SO:0001583	missense	57465			AB032997	CCDS42107.1, CCDS55980.1	16p13.3	2014-05-07				ENSG00000162065			29203	protein-coding gene	gene with protein product	"TBC/LysM-associated domain containing 6"	613577	"deafness, autosomal recessive 86"	DFNB86		10574461, 24387994, 24729539	Standard	NM_001199107		Approved	KIAA1171, TLDC6, DFNA65	uc002cql.3	Q9ULP9		ENST00000293970.5:c.920A>G	16.37:g.2547069A>G	ENSP00000293970:p.Asn307Ser		A0JNW3|B9A6M6|Q2KJ08	Missense_Mutation	SNP	ENST00000293970.5	37	CCDS55980.1	.	.	.	.	.	.	.	.	.	.	A	19.54	3.847006	0.71603	.	.	ENSG00000162065	ENST00000293970;ENST00000434757	T;T	0.24151	1.87;1.87	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.50292	0.1607	M	0.73598	2.24	0.58432	D	0.999997	D;D;D	0.89917	0.995;1.0;1.0	P;D;D	0.91635	0.904;0.997;0.999	T	0.51244	-0.8730	10	0.46703	T	0.11	-37.885	13.7275	0.62767	1.0:0.0:0.0:0.0	.	307;307;307	B9A6M6;Q9ULP9;Q9ULP9-2	.;TBC24_HUMAN;.	S	307	ENSP00000293970:N307S;ENSP00000390106:N307S	ENSP00000293970:N307S	N	+	2	0	TBC1D24	2487070	1.000000	0.71417	0.995000	0.50966	0.988000	0.76386	7.399000	0.79935	1.919000	0.55581	0.533000	0.62120	AAT		0.617	TBC1D24-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000435637.1	NM_020705		G	2547069	A	G	2547069	3	3	703	1	0	0	0	0	1	0	0	0	15619	101	4	3	922	3	TBC1D24	16	2547069	Missense_Mutation	SNP	A	TCGA-KL-8334-01A-11D-2310-10	2085704	2547069	87807684	54	39132											
SRRM2	23524	hgsc.bcm.edu	37	16	2819139	2819139	+	Silent	SNP	C	C	T			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr16:2819139C>T	ENST00000301740.8	+	12	8424	c.7875C>T	c.(7873-7875)tcC>tcT	p.S2625S	AC092117.2_ENST00000581119.1_RNA|SRRM2_ENST00000574593.1_3'UTR	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2625	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						cctcctcctcctcttcttcct	0.592																																																0													141	121	128					16																	2819139		2198	4300	6498	SO:0001819	synonymous_variant	23524			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.7875C>T	16.37:g.2819139C>T			A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Silent	SNP	ENST00000301740.8	37	CCDS32373.1																																																																																				0.592	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			T	2819139	C	T	2819139	2	4	703	1	0	0	0	0	0	0	0	1	15174	668	24	2		2	SRRM2	16	2819139	Silent	SNP	C	TCGA-KL-8334-01A-11D-2310-10	272070	2819139	87535614	55	39133											
KIAA0430	9665	broad.mit.edu	37	16	15718883	15718883	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr16:15718883T>C	ENST00000396368.3	-	9	2307	c.2101A>G	c.(2101-2103)Acc>Gcc	p.T701A	KIAA0430_ENST00000540441.2_Missense_Mutation_p.T558A|KIAA0430_ENST00000602337.1_Missense_Mutation_p.T698A|KIAA0430_ENST00000344181.3_Intron|KIAA0430_ENST00000551742.1_Missense_Mutation_p.T700A|KIAA0430_ENST00000548025.1_Missense_Mutation_p.T698A	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	701					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						TTCTGACTGGTTTTGTAAACG	0.478																																																0													129	125	126					16																	15718883		1933	4143	6076	SO:0001583	missense	9665			AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29562	protein-coding gene	gene with protein product	"limkain b1", "protein phosphatase 1, regulatory subunit 34", "meiosis arrest female 1"	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.2101A>G	16.37:g.15718883T>C	ENSP00000379654:p.Thr701Ala		A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	ENST00000396368.3	37	CCDS10562.2	.	.	.	.	.	.	.	.	.	.	T	13.58	2.279882	0.40294	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000548025;ENST00000551742	.	.	.	6.08	1.35	0.21983	.	0.834384	0.11312	N	0.576993	T	0.31638	0.0803	L	0.36672	1.1	0.23138	N	0.998239	B;B;B;B	0.15141	0.005;0.012;0.012;0.003	B;B;B;B	0.12156	0.007;0.007;0.007;0.003	T	0.23547	-1.0185	9	0.45353	T	0.12	.	8.3104	0.32068	0.0:0.3151:0.0:0.6849	.	699;698;697;700	Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;LKAP_HUMAN	A	701;558;700;698;700	.	ENSP00000315718:T700A	T	-	1	0	KIAA0430	15626384	0.833000	0.29383	0.033000	0.17914	0.728000	0.41692	0.719000	0.25881	-0.028000	0.13850	0.482000	0.46254	ACC		0.478	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647		C	15718883	T	C	15718883	3	2	703	1	0	0	0	0	1	0	0	0	8179	1725	60	3	3206	3	KIAA0430	16	15718883	Missense_Mutation	SNP	T	TCGA-KL-8334-01A-11D-2310-10	12899744	15718883	74635870	56	39134											
LYRM1	57149	bcgsc.ca	37	16	20926885	20926885	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr16:20926885C>T	ENST00000396052.2	+	4	408	c.8C>T	c.(7-9)aCg>aTg	p.T3M	LYRM1_ENST00000569023.1_Missense_Mutation_p.T3M|LYRM1_ENST00000568663.1_Missense_Mutation_p.T3M|LYRM1_ENST00000439021.1_Missense_Mutation_p.T3M|LYRM1_ENST00000219168.4_Missense_Mutation_p.T3M|LYRM1_ENST00000412082.2_Intron|LYRM1_ENST00000562740.1_Intron|LYRM1_ENST00000567954.1_Missense_Mutation_p.T3M			O43325	LYRM1_HUMAN	LYR motif containing 1	3						mitochondrion (GO:0005739)|nucleus (GO:0005634)				large_intestine(1)|prostate(1)	2						AAGATGACAACGGCAACACGA	0.448																																																0													101	98	99					16																	20926885		2201	4300	6501	SO:0001583	missense	57149				CCDS10593.1	16p12.2	2008-02-05			ENSG00000102897	ENSG00000102897		"LYR motif containing"	25074	protein-coding gene	gene with protein product		614709				10493829	Standard	NM_020424		Approved	A211C6.1	uc010bwl.3	O43325	OTTHUMG00000131554	ENST00000396052.2:c.8C>T	16.37:g.20926885C>T	ENSP00000379367:p.Thr3Met		B2R4M5	Missense_Mutation	SNP	ENST00000396052.2	37	CCDS10593.1	.	.	.	.	.	.	.	.	.	.	C	11.48	1.650359	0.29336	.	.	ENSG00000102897	ENST00000439021;ENST00000219168;ENST00000412082;ENST00000396052	.	.	.	5.7	3.77	0.43336	.	0.438148	0.28606	N	0.014745	T	0.25827	0.0629	N	0.16478	0.41	0.23845	N	0.996689	B	0.06786	0.001	B	0.04013	0.001	T	0.15435	-1.0437	9	0.40728	T	0.16	-2.7685	9.6094	0.39654	0.0:0.7879:0.0:0.2121	.	3	O43325	LYRM1_HUMAN	M	3	.	ENSP00000219168:T3M	T	+	2	0	LYRM1	20834386	0.501000	0.26099	0.982000	0.44146	0.768000	0.43524	1.778000	0.38614	0.782000	0.33613	-0.136000	0.14681	ACG		0.448	LYRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254416.1	NM_020424		T	20926885	C	T	20926885	3	4	703	1	0	0	0	0	1	0	0	0	9121	536	19	1	10	1	LYRM1	16	20926885	Missense_Mutation	SNP	C	TCGA-KL-8334-01A-11D-2310-10	5208002	20926885	69427868	57	39135											
IRX3	79191	ucsc.edu	37	16	54318841	54318841	+	Missense_Mutation	SNP	C	C	A	rs567541390		TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr16:54318841C>A	ENST00000329734.3	-	2	1664	c.952G>T	c.(952-954)Gcc>Tcc	p.A318S		NM_024336.2	NP_077312.2	P78415	IRX3_HUMAN	iroquois homeobox 3	318	Pro-rich.				mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of neuron differentiation (GO:0045666)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)|transcription, DNA-templated (GO:0006351)	axon (GO:0030424)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	14						GAGGCCACGGCCACTGGTGGT	0.667																																					GBM(143;1830 1866 4487 4646 37383)											0													7	9	8					16																	54318841		2121	4185	6306	SO:0001583	missense	79191			U90308	CCDS10750.1	16q12.2	2011-06-20	2007-07-13		ENSG00000177508	ENSG00000177508		"Homeoboxes / TALE class"	14360	protein-coding gene	gene with protein product		612985					Standard	NM_024336		Approved	IRX-1	uc002eht.1	P78415	OTTHUMG00000133200	ENST00000329734.3:c.952G>T	16.37:g.54318841C>A	ENSP00000331608:p.Ala318Ser		Q7Z4A4|Q7Z4A5|Q8IVC6	Missense_Mutation	SNP	ENST00000329734.3	37	CCDS10750.1	.	.	.	.	.	.	.	.	.	.	C	0.815	-0.750701	0.03041	.	.	ENSG00000177508	ENST00000329734;ENST00000541845	T	0.52754	0.65	4.17	2.21	0.28008	.	0.404066	0.25587	N	0.029650	T	0.21307	0.0513	N	0.08118	0	0.23076	N	0.998335	B	0.23377	0.084	B	0.20184	0.028	T	0.23833	-1.0177	10	0.08599	T	0.76	-4.344	8.1936	0.31383	0.0:0.7998:0.0:0.2002	.	318	P78415	IRX3_HUMAN	S	318;17	ENSP00000331608:A318S	ENSP00000331608:A318S	A	-	1	0	IRX3	52876342	0.002000	0.14202	0.493000	0.27502	0.226000	0.24999	0.216000	0.17585	0.431000	0.26258	0.449000	0.29647	GCC		0.667	IRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256910.2			A	54318841	C	A	54318841	3	1	703	1	0	0	0	0	1	0	0	0	7847	739	26	4	565	4	IRX3	16	54318841	Missense_Mutation	SNP	C	TCGA-KL-8334-01A-11D-2310-10	33391956	54318841	36035912	58	39136											
NFAT5	10725	bcgsc.ca	37	16	69724942	69724942	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr16:69724942T>C	ENST00000354436.2	+	11	2138	c.1820T>C	c.(1819-1821)gTt>gCt	p.V607A	NFAT5_ENST00000567239.1_Missense_Mutation_p.V624A|NFAT5_ENST00000566899.1_Missense_Mutation_p.V531A|NFAT5_ENST00000393742.2_Missense_Mutation_p.V531A|NFAT5_ENST00000349945.1_Missense_Mutation_p.V531A|NFAT5_ENST00000432919.1_Missense_Mutation_p.V625A	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	607					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						AGTGAAGATGTTACTCCAATG	0.348																																																0													99	97	98					16																	69724942		2198	4297	6495	SO:0001583	missense	10725			AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"Nuclear factor of activated T-cells"	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.1820T>C	16.37:g.69724942T>C	ENSP00000346420:p.Val607Ala		A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Missense_Mutation	SNP	ENST00000354436.2	37	CCDS10881.1	.	.	.	.	.	.	.	.	.	.	T	15.09	2.730245	0.48939	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	T;T;T;T	0.46063	0.89;0.88;0.89;0.88	5.36	5.36	0.76844	.	0.410753	0.27134	N	0.020778	T	0.31167	0.0788	L	0.51422	1.61	0.35732	D	0.818025	B;B;B	0.15473	0.013;0.003;0.0	B;B;B	0.12837	0.008;0.005;0.001	T	0.29088	-1.0023	10	0.09084	T	0.74	-0.7107	6.7615	0.23542	0.0:0.0766:0.1537:0.7697	.	624;607;625	A2RRB4;O94916;E9PHR7	.;NFAT5_HUMAN;.	A	625;624;531;607;531	ENSP00000396538:V625A;ENSP00000338806:V531A;ENSP00000346420:V607A;ENSP00000377343:V531A	ENSP00000338806:V531A	V	+	2	0	NFAT5	68282443	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.410000	0.52664	2.042000	0.60477	0.533000	0.62120	GTT		0.348	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		C	69724942	T	C	69724942	3	2	703	1	0	0	0	0	1	0	0	0	10362	1725	60	3	1920	3	NFAT5	16	69724942	Missense_Mutation	SNP	T	TCGA-KL-8334-01A-11D-2310-10	15406101	69724942	20629811	59	39137											
CLEC18A	348174	mdanderson.org	37	16	69988260	69988260	+	Silent	SNP	G	G	A	rs684036	byFrequency	TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr16:69988260G>A	ENST00000288040.6	+	3	427	c.240G>A	c.(238-240)caG>caA	p.Q80Q	CLEC18A_ENST00000568461.1_Silent_p.Q80Q|CLEC18A_ENST00000393701.2_Silent_p.Q80Q|CLEC18A_ENST00000449317.2_Silent_p.Q80Q	NM_001136214.2	NP_001129686.1	A5D8T8	CL18A_HUMAN	C-type lectin domain family 18, member A	80	SCP.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(2)|lung(1)|skin(1)	5						GCCTGGCCCAGCTGGCTCAAG	0.647													.|||	759	0.151558	0.0174	0.2709	5008	,	,		17235	0.0704		0.328	False		,,,				2504	0.1503															0								A	,	3,4371		0,3,2184	48	36	40		240,240	-3.4	0	16	dbSNP_83	40	221,7801		0,221,3790	no	coding-synonymous,coding-synonymous	CLEC18A	NM_001136214.1,NM_182619.2	,	0,224,5974	AA,AG,GG		2.7549,0.0686,1.807	,	80/447,80/447	69988260	224,12172	2187	4011	6198	SO:0001819	synonymous_variant	348174			AF428259	CCDS10886.1	16q22.1	2010-04-27	2009-03-10	2009-03-10		ENSG00000157322		"C-type lectin domain containing"	30388	protein-coding gene	gene with protein product	"mannose receptor-like"					12975309	Standard	NM_001136214		Approved	MRCL	uc010vlo.3	A5D8T8		ENST00000288040.6:c.240G>A	16.37:g.69988260G>A			A8K1G9|Q6DCB3|Q7Z5K9|Q96HH2	Silent	SNP	ENST00000288040.6	37	CCDS10886.1																																																																																				0.647	CLEC18A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268955.2	NM_182619		A	69988260	G	A	69988260	2	1	703	1	0	0	0	0	0	0	0	1	3504	962	34	2		2	CLEC18A	16	69988260	Silent	SNP	G	TCGA-KL-8334-01A-11D-2310-10	263318	69988260	20366493	60	39138											
HOXB4	3214	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	17	46654334	46654334	+	Missense_Mutation	SNP	T	T	A			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr17:46654334T>A	ENST00000332503.5	-	2	2297	c.506A>T	c.(505-507)tAc>tTc	p.Y169F	HOXB3_ENST00000311626.4_5'Flank|MIR10A_ENST00000385043.1_RNA|HOXB3_ENST00000485909.2_5'Flank|HOXB3_ENST00000552000.2_Intron|HOXB3_ENST00000489475.1_Intron|HOXB3_ENST00000498678.1_Intron|HOXB3_ENST00000490677.1_5'Flank|HOXB3_ENST00000476342.1_Intron|HOXB3_ENST00000460160.1_Intron|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000465120.3_Intron|HOXB3_ENST00000472863.1_Intron	NM_024015.4	NP_076920.1	P17483	HXB4_HUMAN	homeobox B4	169					anterior/posterior pattern specification (GO:0009952)|bone marrow development (GO:0048539)|cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|hematopoietic stem cell differentiation (GO:0060218)|morphogenesis of an epithelial sheet (GO:0002011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell division (GO:0048103)|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)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	9						CTGGCGCGTGTAGGCGGTCCG	0.607																																																0													60	65	63					17																	46654334		2203	4300	6503	SO:0001583	missense	3214				CCDS11529.1	17q21.32	2011-06-20	2005-12-22		ENSG00000182742	ENSG00000182742		"Homeoboxes / ANTP class : HOXL subclass"	5115	protein-coding gene	gene with protein product		142965	"homeo box B4"	HOX2, HOX2F		1973146, 1358459	Standard	NM_024015		Approved		uc002inp.3	P17483	OTTHUMG00000159920	ENST00000332503.5:c.506A>T	17.37:g.46654334T>A	ENSP00000328928:p.Tyr169Phe		Q9NTA0	Missense_Mutation	SNP	ENST00000332503.5	37	CCDS11529.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.777571	0.90195	.	.	ENSG00000182742	ENST00000332503	D	0.94828	-3.53	5.27	4.2	0.49525	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.93194	0.7832	N	0.11892	0.195	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93155	0.6553	10	0.87932	D	0	.	10.5006	0.44804	0.0:0.0772:0.0:0.9228	.	169	P17483	HXB4_HUMAN	F	169	ENSP00000328928:Y169F	ENSP00000328928:Y169F	Y	-	2	0	HOXB4	44009333	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.250000	0.72435	0.852000	0.35287	0.459000	0.35465	TAC		0.607	HOXB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358259.2			A	46654334	T	A	46654334	3	1	703	1	0	0	0	0	1	0	0	0	7305	1638	57	5	253	5	HOXB4	17	46654334	Missense_Mutation	SNP	T	TCGA-KL-8334-01A-11D-2310-10		46654334	34540876	61	39139											
SGCA	6442	hgsc.bcm.edu	37	17	48245013	48245013	+	Silent	SNP	C	C	T			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr17:48245013C>T	ENST00000262018.3	+	3	264	c.228C>T	c.(226-228)ctC>ctT	p.L76L	SGCA_ENST00000451235.2_Intron|RP11-893F2.14_ENST00000572855.1_RNA|SGCA_ENST00000344627.6_Silent_p.L76L|SGCA_ENST00000543315.1_Silent_p.L76L|SGCA_ENST00000513942.1_Intron	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN	sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)	76					muscle contraction (GO:0006936)|muscle organ development (GO:0007517)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						CCCGGTGGCTCCGCTACACCC	0.667																																																0													47	47	47					17																	48245013		2203	4300	6503	SO:0001819	synonymous_variant	6442			L34355	CCDS32679.1, CCDS45729.1	17q21	2014-09-17	2002-08-29		ENSG00000108823	ENSG00000108823			10805	protein-coding gene	gene with protein product	"50kD DAG", "Sarcoglycan, alpha (50kD dystrophin-associated glycoprotein; adhalin)", "adhalin (limb girdle muscular dystrophy 2D)"	600119	"sarcoglycan, alpha (50kD dystrophin-associated glycoprotein)"	ADL		7937874	Standard	NM_000023		Approved	SCARMD1, LGMD2D, adhalin, DMDA2, A2	uc002iqi.3	Q16586	OTTHUMG00000162024	ENST00000262018.3:c.228C>T	17.37:g.48245013C>T			A6NEB8|A8K3K7|Q13710|Q13712	Silent	SNP	ENST00000262018.3	37	CCDS32679.1																																																																																				0.667	SGCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366841.1	NM_000023		T	48245013	C	T	48245013	2	4	703	1	0	0	0	0	0	0	0	1	14205	842	30	2		2	SGCA	17	48245013	Silent	SNP	C	TCGA-KL-8334-01A-11D-2310-10	1590679	48245013	32950197	62	39140											
KIF19	124602	ucsc.edu	37	17	72339295	72339295	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr17:72339295T>C	ENST00000389916.4	+	5	590	c.452T>C	c.(451-453)cTg>cCg	p.L151P		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	151	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						ATGTCCTACCTGGAGGTGAGT	0.617																																																0													70	55	60					17																	72339295		2203	4300	6503	SO:0001583	missense	124602			AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"Kinesins"	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.452T>C	17.37:g.72339295T>C	ENSP00000374566:p.Leu151Pro		A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Missense_Mutation	SNP	ENST00000389916.4	37	CCDS32718.2	.	.	.	.	.	.	.	.	.	.	T	20.8	4.044207	0.75732	.	.	ENSG00000196169	ENST00000551294;ENST00000389916	T;T	0.80393	-0.94;-1.37	5.48	5.48	0.80851	Kinesin, motor domain (4);	.	.	.	.	D	0.93504	0.7927	H	0.98155	4.16	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;0.99;0.99	D	0.95672	0.8724	9	0.87932	D	0	.	14.6067	0.68483	0.0:0.0:0.0:1.0	.	151;151;151;151	Q2TAC6;F8VW50;Q2TAC6-3;Q2TAC6-2	KIF19_HUMAN;.;.;.	P	151	ENSP00000449134:L151P;ENSP00000374566:L151P	ENSP00000374566:L151P	L	+	2	0	KIF19	69850890	1.000000	0.71417	0.999000	0.59377	0.626000	0.37791	7.518000	0.81795	2.103000	0.63969	0.454000	0.30748	CTG		0.617	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209		C	72339295	T	C	72339295	3	2	703	1	0	0	0	0	1	0	0	0	8284	1580	55	3	470	3	KIF19	17	72339295	Missense_Mutation	SNP	T	TCGA-KL-8334-01A-11D-2310-10	24094282	72339295	8855915	63	39141											
KIAA1012	22878	broad.mit.edu;ucsc.edu;mdanderson.org	37	18	29511428	29511428	+	Silent	SNP	T	T	C			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr18:29511428T>C	ENST00000283351.4	-	2	551	c.216A>G	c.(214-216)gtA>gtG	p.V72V	TRAPPC8_ENST00000584876.1_5'UTR|TRAPPC8_ENST00000582539.1_Silent_p.V18V|TRAPPC8_ENST00000582513.1_Silent_p.V72V	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	72					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CAATGTTGCTTACTGCTATCT	0.368																																																0													147	148	148					18																	29511428		2203	4300	6503	SO:0001819	synonymous_variant	22878			AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"Trafficking protein particle complex"	29169	protein-coding gene	gene with protein product	"general sporulation gene 1 homolog (S. cerevisiae)"	614136	"KIAA1012"	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.216A>G	18.37:g.29511428T>C			A0JP15|B3KME5|Q9H0L2	Silent	SNP	ENST00000283351.4	37	CCDS11901.1																																																																																				0.368	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	NM_014939		C	29511428	T	C	29511428	2	2	703	1	0	0	0	0	0	0	0	1	8206	1741	61	3		3	KIAA1012	18	29511428	Silent	SNP	T	TCGA-KL-8334-01A-11D-2310-10		29511428	48565820	64	39142											
DOT1L	84444	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	19	2207667	2207667	+	Silent	SNP	C	C	T			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr19:2207667C>T	ENST00000398665.3	+	11	987	c.951C>T	c.(949-951)atC>atT	p.I317I		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	317	DOT1. {ECO:0000255|PROSITE- ProRule:PRU00902}.				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)		TGCACACTATCGACCGCACCA	0.632																																																0													72	85	80					19																	2207667		2187	4267	6454	SO:0001819	synonymous_variant	84444			AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases"	24948	protein-coding gene	gene with protein product	"histone methyltransferase DOT1L"	607375	"DOT1-like, histone H3 methyltransferase (S. cerevisiae)"			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.951C>T	19.37:g.2207667C>T			O60379|Q96JL1	Silent	SNP	ENST00000398665.3	37	CCDS42460.1	.	.	.	.	.	.	.	.	.	.	C	11.73	1.724445	0.30593	.	.	ENSG00000104885	ENST00000440640	.	.	.	4.84	-2.37	0.06643	.	.	.	.	.	T	0.50548	0.1622	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45891	-0.9230	4	.	.	.	-25.0987	6.4921	0.22121	0.1462:0.1694:0.0:0.6845	.	.	.	.	L	104	.	.	S	+	2	0	DOT1L	2158667	0.977000	0.34250	0.993000	0.49108	0.972000	0.66771	0.145000	0.16157	-0.138000	0.11434	-0.793000	0.03317	TCG		0.632	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482		T	2207667	C	T	2207667	2	4	703	1	0	0	0	0	0	0	0	1	4711	874	31	1		1	DOT1L	19	2207667	Silent	SNP	C	TCGA-KL-8334-01A-11D-2310-10		2207667	56921316	65	39143											
MUC16	94025	mdanderson.org	37	19	8999479	8999479	+	Missense_Mutation	SNP	G	G	T			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr19:8999479G>T	ENST00000397910.4	-	56	40899	c.40696C>A	c.(40696-40698)Cag>Aag	p.Q13566K	MUC16_ENST00000380951.5_Missense_Mutation_p.Q207K	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13568	SEA 10. {ECO:0000255|PROSITE- ProRule:PRU00188}.			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						CAGTATAGCTGCTCTCTGTCC	0.587																																																0													172	145	153					19																	8999479		1997	4180	6177	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.40696C>A	19.37:g.8999479G>T	ENSP00000381008:p.Gln13566Lys		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.047|0.047	-1.262604|-1.262604	0.01445|0.01445	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000397910;ENST00000380951|ENST00000542240	T;T|.	0.35421|.	1.31;1.31|.	3.48|3.48	1.01|1.01	0.19927|0.19927	SEA (2);|.	.|.	.|.	.|.	.|.	T|T	0.43875|0.43875	0.1267|0.1267	L|L	0.48642|0.48642	1.525|1.525	.|.	.|.	.|.	B;P|.	0.39576|.	0.025;0.679|.	B;P|.	0.47044|.	0.025;0.535|.	T|T	0.52601|0.52601	-0.8554|-0.8554	8|4	0.11794|.	T|.	0.64|.	-0.0012|-0.0012	7.5959|7.5959	0.28048|0.28048	0.0:0.0:0.5377:0.4623|0.0:0.0:0.5377:0.4623	.|.	21211;13566|.	Q8WXI7;B5ME49|.	MUC16_HUMAN;.|.	K|R	13566;207|405	ENSP00000381008:Q13566K;ENSP00000370338:Q207K|.	ENSP00000370338:Q207K|.	Q|S	-|-	1|3	0|2	MUC16|MUC16	8860479|8860479	0.000000|0.000000	0.05858|0.05858	0.644000|0.644000	0.29465|0.29465	0.069000|0.069000	0.16628|0.16628	-0.955000|-0.955000	0.03869|0.03869	0.786000|0.786000	0.33708|0.33708	0.555000|0.555000	0.69702|0.69702	CAG|AGC		0.587	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	8999479	G	T	8999479	3	4	703	1	0	0	0	0	1	0	0	0	9975	1328	46	4	2943	4	MUC16	19	8999479	Missense_Mutation	SNP	G	TCGA-KL-8334-01A-11D-2310-10	6791812	8999479	50129504	66	39144											
ICAM5	7087	mdanderson.org	37	19	10407169	10407169	+	Silent	SNP	G	G	C	rs710845	byFrequency	TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr19:10407169G>C	ENST00000221980.4	+	11	2715	c.2652G>C	c.(2650-2652)ctG>ctC	p.L884L		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	884					phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			CCGTGTGTCTGAACGGAgcgg	0.771													C|||	2557	0.510583	0.5681	0.6455	5008	,	,		6247	0.3313		0.5895	False		,,,				2504	0.4407															0								C		1682,962		566,550,206	4	3	3		2652	0.5	1	19	dbSNP_86	3	2905,1749		979,947,401	no	coding-synonymous	ICAM5	NM_003259.3		1545,1497,607	CC,CG,GG		37.5806,36.3843,37.1472		884/925	10407169	4587,2711	1322	2327	3649	SO:0001819	synonymous_variant	7087			U72671	CCDS12233.1	19p13.2	2013-01-14				ENSG00000105376		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5348	protein-coding gene	gene with protein product	"telencephalin"	601852		TLCN		8995416, 9828136	Standard	NM_003259		Approved	TLN	uc002mnu.4	Q9UMF0		ENST00000221980.4:c.2652G>C	19.37:g.10407169G>C			Q9Y6F3	Silent	SNP	ENST00000221980.4	37	CCDS12233.1																																																																																				0.771	ICAM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451217.1	NM_003259		C	10407169	G	C	10407169	2	2	703	1	0	0	0	0	0	0	0	1	7485	1277	45	4		4	ICAM5	19	10407169	Silent	SNP	G	TCGA-KL-8334-01A-11D-2310-10	1407690	10407169	48721814	67	39145											
LRP3	4037	broad.mit.edu	37	19	33697008	33697008	+	Silent	SNP	C	C	T	rs201999025		TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr19:33697008C>T	ENST00000253193.7	+	5	1534	c.1332C>T	c.(1330-1332)ccC>ccT	p.P444P	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	444	LDL-receptor class A 3. {ECO:0000255|PROSITE-ProRule:PRU00124}.				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)					AAAGCTGTCCCGACGGCGCCG	0.662													C|||	1	0.000199681	0.0	0.0014	5008	,	,		15326	0.0		0.0	False		,,,				2504	0.0															0													24	24	24					19																	33697008		2200	4297	6497	SO:0001819	synonymous_variant	4037			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.1332C>T	19.37:g.33697008C>T			B3KQD6|B4DKF2	Silent	SNP	ENST00000253193.7	37	CCDS12430.1																																																																																				0.662	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450842.4			T	33697008	C	T	33697008	2	4	703	1	0	0	0	0	0	0	0	1	8960	639	23	1		1	LRP3	19	33697008	Silent	SNP	C	TCGA-KL-8334-01A-11D-2310-10	23289839	33697008	25431975	68	39146											
GPCPD1	56261	broad.mit.edu	37	20	5548180	5548180	+	Missense_Mutation	SNP	T	T	A			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr20:5548180T>A	ENST00000379019.4	-	13	1388	c.1176A>T	c.(1174-1176)ttA>ttT	p.L392F	GPCPD1_ENST00000481038.1_5'UTR	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN	glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)	392	GP-PDE.				glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)	glycerophosphocholine phosphodiesterase activity (GO:0047389)|starch binding (GO:2001070)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						GAATTTCAAATAATTCAACTG	0.249																																																0													68	77	74					20																	5548180		2201	4298	6499	SO:0001583	missense	56261				CCDS13090.1	20p12.3	2011-01-25			ENSG00000125772	ENSG00000125772			26957	protein-coding gene	gene with protein product		614124				10718198, 20576599	Standard	NM_019593		Approved	KIAA1434, GDE5, GDPD6	uc002wme.4	Q9NPB8	OTTHUMG00000031806	ENST00000379019.4:c.1176A>T	20.37:g.5548180T>A	ENSP00000368305:p.Leu392Phe		D3DW06|Q9BQL8|Q9NUX0	Missense_Mutation	SNP	ENST00000379019.4	37	CCDS13090.1	.	.	.	.	.	.	.	.	.	.	T	18.95	3.731877	0.69189	.	.	ENSG00000125772	ENST00000379019	T	0.11930	2.73	5.05	-0.32	0.12721	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.000000	0.64402	D	0.000001	T	0.23171	0.0560	L	0.57536	1.79	0.52501	D	0.99995	D	0.89917	1.0	D	0.91635	0.999	T	0.27872	-1.0061	10	0.09590	T	0.72	-14.4099	8.5129	0.33229	0.0:0.5133:0.0:0.4867	.	392	Q9NPB8	GPCP1_HUMAN	F	392	ENSP00000368305:L392F	ENSP00000368305:L392F	L	-	3	2	GPCPD1	5496180	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	1.120000	0.31271	0.059000	0.16252	0.455000	0.32223	TTA		0.249	GPCPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077869.1	NM_019593		A	5548180	T	A	5548180	3	1	703	1	0	0	0	0	1	0	0	0	6605	1403	49	5	874	5	GPCPD1	20	5548180	Missense_Mutation	SNP	T	TCGA-KL-8334-01A-11D-2310-10		5548180	57477340	69	39147											
USP9X	8239	broad.mit.edu;hgsc.bcm.edu	37	X	41088984	41088985	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chrX:41088984_41088985insA	ENST00000324545.8	+	43	8016_8017	c.7383_7384insA	c.(7384-7386)agtfs	p.S2462fs	USP9X_ENST00000378308.2_Frame_Shift_Ins_p.S2462fs	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	2462					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						AGAGATCACATAGTGCTAGGAT	0.431																																					Ovarian(172;1807 2695 35459 49286)											0																																										SO:0001589	frameshift_variant	8239			X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"Ubiquitin-specific peptidases"	12632	protein-coding gene	gene with protein product		300072	"ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)", "ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)", "ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.7384dupA	X.37:g.41088985_41088985dupA	ENSP00000316357:p.Ser2462fs		O75550|Q8WWT3|Q8WX12	Frame_Shift_Ins	INS	ENST00000324545.8	37	CCDS43930.1																																																																																				0.431	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		A	41088985	-	A	41088984	7	5	703	1	0	1	1	0	0	0	0	0	17095	1403	49	0	7549	0	USP9X	23	41088984	Frame_Shift_Ins	INS	-	TCGA-KL-8334-01A-11D-2310-10		41088984	114181576	70	39148	317	2									
USP9X	8239	bcgsc.ca	37	X	41088985	41088986	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chrX:41088985_41088986insA	ENST00000324545.8	+	43	8017_8018	c.7384_7385insA	c.(7384-7386)agtfs	p.S2462fs	USP9X_ENST00000378308.2_Frame_Shift_Ins_p.S2462fs	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	2462					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						GAGATCACATAGTGCTAGGATG	0.426																																					Ovarian(172;1807 2695 35459 49286)											0																																										SO:0001589	frameshift_variant	8239			X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"Ubiquitin-specific peptidases"	12632	protein-coding gene	gene with protein product		300072	"ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)", "ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)", "ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.7384dupA	X.37:g.41088985_41088985dupA	ENSP00000316357:p.Ser2462fs		O75550|Q8WWT3|Q8WX12	Frame_Shift_Ins	INS	ENST00000324545.8	37	CCDS43930.1																																																																																				0.426	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		A	41088986	-	A	41088985	7	5	703	1	0	1	1	0	0	0	0	0	17095	420	15	0	7550	0	USP9X	23	41088985	Frame_Shift_Ins	INS	-	TCGA-KL-8334-01A-11D-2310-10	1	41088985	114181575	71	39149	317	2									
SHROOM4	57477	broad.mit.edu	37	X	50376364	50376364	+	Silent	SNP	A	A	G			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chrX:50376364A>G	ENST00000289292.7	-	4	2992	c.2709T>C	c.(2707-2709)taT>taC	p.Y903Y	SHROOM4_ENST00000460112.3_Silent_p.Y787Y|SHROOM4_ENST00000376020.2_Silent_p.Y903Y			Q9ULL8	SHRM4_HUMAN	shroom family member 4	903	Cys-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)			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)					CCCCAGAACAATAAATGCAAG	0.463																																																0													74	61	66					X																	50376364		2203	4300	6503	SO:0001819	synonymous_variant	57477			AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.2709T>C	X.37:g.50376364A>G			A7E2X9|D6RFW0|Q96LA0	Silent	SNP	ENST00000289292.7	37	CCDS35277.1																																																																																				0.463	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		G	50376364	A	G	50376364	2	3	703	1	0	0	0	0	0	0	0	1	14302	108	4	3		3	SHROOM4	23	50376364	Silent	SNP	A	TCGA-KL-8334-01A-11D-2310-10	9287379	50376364	104894196	72	39150											
PASD1	139135	broad.mit.edu	37	X	150791421	150791421	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chrX:150791421T>C	ENST00000370357.4	+	7	676	c.431T>C	c.(430-432)gTc>gCc	p.V144A		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	144						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)					TTTCCTGTGGTCTTTAGTGGC	0.448																																																0													258	214	229					X																	150791421		2203	4300	6503	SO:0001583	missense	139135			AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"cancer/testis antigen 63"					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.431T>C	X.37:g.150791421T>C	ENSP00000359382:p.Val144Ala		Q3MNE0|Q69HD7|Q8N7X9	Missense_Mutation	SNP	ENST00000370357.4	37	CCDS35431.1	.	.	.	.	.	.	.	.	.	.	T	9.529	1.110219	0.20714	.	.	ENSG00000166049	ENST00000370357	T	0.68903	-0.36	3.78	1.21	0.21127	.	.	.	.	.	T	0.38241	0.1033	N	0.14661	0.345	0.09310	N	1	B	0.32382	0.368	B	0.29176	0.099	T	0.30966	-0.9960	9	0.02654	T	1	.	5.8489	0.18681	0.4373:0.0:0.0:0.5627	.	144	Q8IV76	PASD1_HUMAN	A	144	ENSP00000359382:V144A	ENSP00000359382:V144A	V	+	2	0	PASD1	150542077	0.006000	0.16342	0.000000	0.03702	0.004000	0.04260	1.042000	0.30303	0.130000	0.18549	0.417000	0.27973	GTC		0.448	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		C	150791421	T	C	150791421	3	2	703	1	0	0	0	0	1	0	0	0	11473	1667	58	3	453	3	PASD1	23	150791421	Missense_Mutation	SNP	T	TCGA-KL-8334-01A-11D-2310-10	100415057	150791421	4479139	73	39151											
ATP2B3	492	broad.mit.edu	37	X	152823628	152823628	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chrX:152823628A>G	ENST00000349466.2	+	16	2818	c.2492A>G	c.(2491-2493)aAc>aGc	p.N831S	ATP2B3_ENST00000263519.4_Missense_Mutation_p.N831S|ATP2B3_ENST00000370186.1_Missense_Mutation_p.N817S|ATP2B3_ENST00000460549.1_3'UTR|ATP2B3_ENST00000359149.3_Missense_Mutation_p.N831S|ATP2B3_ENST00000370181.2_Missense_Mutation_p.N817S|ATP2B3_ENST00000393842.1_Missense_Mutation_p.N817S			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	831					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)					ACCGATGACAACTTCACCAGC	0.572																																																0													239	148	179					X																	152823628		2203	4300	6503	SO:0001583	missense	492			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.2492A>G	X.37:g.152823628A>G	ENSP00000343886:p.Asn831Ser		B7WNR8|B7WNY5|Q12995|Q16858	Missense_Mutation	SNP	ENST00000349466.2	37	CCDS35440.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.368767	0.82463	.	.	ENSG00000067842	ENST00000370186;ENST00000349466;ENST00000393842;ENST00000359149;ENST00000263519;ENST00000370181	D;D;D;D;D;D	0.97665	-4.48;-4.48;-4.48;-4.48;-4.48;-4.48	4.84	4.84	0.62591	HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.98115	0.9378	M	0.77103	2.36	0.54753	D	0.999985	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.98863	1.0763	10	0.87932	D	0	-40.3883	12.5684	0.56322	1.0:0.0:0.0:0.0	.	831;831	Q16720;Q16720-2	AT2B3_HUMAN;.	S	817;831;817;831;831;817	ENSP00000359205:N817S;ENSP00000343886:N831S;ENSP00000377425:N817S;ENSP00000352062:N831S;ENSP00000263519:N831S;ENSP00000359200:N817S	ENSP00000263519:N831S	N	+	2	0	ATP2B3	152476822	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	9.335000	0.96500	1.603000	0.50134	0.378000	0.23410	AAC		0.572	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		G	152823628	A	G	152823628	3	3	703	1	0	0	0	0	1	0	0	0	1141	43	2	3	2550	3	ATP2B3	23	152823628	Missense_Mutation	SNP	A	TCGA-KL-8334-01A-11D-2310-10	2032207	152823628	2446932	74	39152											
ACAP3	116983	ucsc.edu;bcgsc.ca	37	1	1229272	1229272	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr1:1229272G>A	ENST00000354700.5	-	23	2493	c.2291C>T	c.(2290-2292)gCc>gTc	p.A764V	ACAP3_ENST00000353662.3_Missense_Mutation_p.A689V|ACAP3_ENST00000379037.2_5'Flank	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	764					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						TTGGTCCAGGGCGTGCTGGTC	0.741																																																0													19	19	19					1																	1229272		2095	4151	6246	SO:0001583	missense	116983			AF411981	CCDS19.2	1p36	2013-01-10	2008-09-22	2008-09-22	ENSG00000131584	ENSG00000131584		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16754	protein-coding gene	gene with protein product			"centaurin, beta 5"	CENTB5			Standard	NM_030649		Approved	KIAA1716	uc001aeb.2	Q96P50	OTTHUMG00000002235	ENST00000354700.5:c.2291C>T	1.37:g.1229272G>A	ENSP00000346733:p.Ala764Val		B1AMF5|Q5TA42|Q5TA43|Q86UT3|Q9BSR9|Q9C0E7	Missense_Mutation	SNP	ENST00000354700.5	37	CCDS19.2	.	.	.	.	.	.	.	.	.	.	G	12.86	2.064997	0.36470	.	.	ENSG00000131584	ENST00000354700;ENST00000353662	T;T	0.35048	1.33;1.33	4.28	4.28	0.50868	Ankyrin repeat-containing domain (4);	0.202694	0.41712	D	0.000832	T	0.27697	0.0681	L	0.47078	1.49	0.38407	D	0.945824	P;B	0.47484	0.896;0.138	B;B	0.37601	0.254;0.026	T	0.17440	-1.0369	10	0.09590	T	0.72	.	15.7782	0.78240	0.0:0.0:1.0:0.0	.	764;689	Q96P50;Q96P50-1	ACAP3_HUMAN;.	V	764;689	ENSP00000346733:A764V;ENSP00000321139:A689V	ENSP00000321139:A689V	A	-	2	0	ACAP3	1219135	1.000000	0.71417	0.991000	0.47740	0.919000	0.55068	4.242000	0.58714	2.370000	0.80446	0.549000	0.68633	GCC		0.741	ACAP3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006366.2	NM_030649		A	1229272	G	A	1229272	3	1	704	1	0	0	0	0	1	0	0	0	120	1203	42	2	221	2	ACAP3	1	1229272	Missense_Mutation	SNP	G	TCGA-KL-8335-01A-11D-2310-10		1229272	248021349	1	39153											
CC2D1B	200014	ucsc.edu	37	1	52825206	52825206	+	Splice_Site	SNP	T	T	C			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr1:52825206T>C	ENST00000371586.2	-	9	1081	c.943A>G	c.(943-945)Aga>Gga	p.R315G	CC2D1B_ENST00000460261.1_5'UTR|CC2D1B_ENST00000284376.3_Splice_Site_p.R315G|CC2D1B_ENST00000438831.1_5'UTR	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	315						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(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						GCACCGAATCTCTGCAGAAGT	0.582																																																0													34	38	36					1																	52825206		2203	4300	6503	SO:0001630	splice_region_variant	200014			AB058739	CCDS30714.1	1p32.3	2008-02-05			ENSG00000154222	ENSG00000154222			29386	protein-coding gene	gene with protein product						11347906	Standard	NM_032449		Approved	KIAA1836	uc001ctq.2	Q5T0F9	OTTHUMG00000008102	ENST00000371586.2:c.943-1A>G	1.37:g.52825206T>C			Q49AE8|Q5T0F8|Q5T0G0|Q6ZNQ1|Q96AP3|Q96I04|Q96JJ1	Missense_Mutation	SNP	ENST00000371586.2	37	CCDS30714.1	.	.	.	.	.	.	.	.	.	.	T	10.23	1.292788	0.23564	.	.	ENSG00000154222	ENST00000371586;ENST00000284376;ENST00000371573	T;T	0.27557	1.66;1.66	4.84	3.7	0.42460	Domain of unknown function DM14 (1);	0.563629	0.19178	N	0.120751	T	0.14227	0.0344	N	0.05124	-0.11	0.80722	D	1	B;B	0.09022	0.0;0.002	B;B	0.04013	0.001;0.001	T	0.07233	-1.0783	10	0.15066	T	0.55	-4.0055	10.9531	0.47341	0.0:0.0:0.1573:0.8427	.	101;315	Q5T0G1;Q5T0F9	.;C2D1B_HUMAN	G	315;315;229	ENSP00000360642:R315G;ENSP00000284376:R315G	ENSP00000284376:R315G	R	-	1	2	CC2D1B	52597794	1.000000	0.71417	0.998000	0.56505	0.747000	0.42532	2.944000	0.49034	0.857000	0.35407	0.529000	0.55759	AGA		0.582	CC2D1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022189.1	NM_032449	Missense_Mutation	C	52825206	T	C	52825206	5	2	704	1	0	0	0	0	0	0	1	0	2729	1565	54	3	1697	3	CC2D1B	1	52825206	Splice_Site	SNP	T	TCGA-KL-8335-01A-11D-2310-10	51595934	52825206	196425415	2	39154											
PCSK9	255738	ucsc.edu	37	1	55505643	55505643	+	Silent	SNP	T	T	C			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr1:55505643T>C	ENST00000302118.5	+	1	423	c.133T>C	c.(133-135)Ttg>Ctg	p.L45L	PCSK9_ENST00000543384.1_5'Flank|PCSK9_ENST00000452118.2_Silent_p.L45L	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	45					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						GGTGCTAGCCTTGCGTTCCGA	0.711																																					Pancreas(137;1454 1827 5886 22361 42375)											0													36	29	31					1																	55505643		2185	4268	6453	SO:0001819	synonymous_variant	255738			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.133T>C	1.37:g.55505643T>C			A8T640|C0JYY9|Q5PSM5|Q5SZQ2	Silent	SNP	ENST00000302118.5	37	CCDS603.1																																																																																				0.711	PCSK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022280.1	NM_174936		C	55505643	T	C	55505643	2	2	704	1	0	0	0	0	0	0	0	1	11608	1606	56	3		3	PCSK9	1	55505643	Silent	SNP	T	TCGA-KL-8335-01A-11D-2310-10	2680437	55505643	193744978	3	39155											
AK5	26289	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	77759511	77759511	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr1:77759511G>A	ENST00000354567.2	+	3	544	c.281G>A	c.(280-282)cGg>cAg	p.R94Q	AK5_ENST00000344720.5_Missense_Mutation_p.R68Q|AK5_ENST00000317704.4_Intron	NM_174858.2	NP_777283.1	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	94					ADP biosynthetic process (GO:0006172)|ATP metabolic process (GO:0046034)|dADP biosynthetic process (GO:0006173)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|pyrimidine ribonucleotide biosynthetic process (GO:0009220)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule organizing center (GO:0005815)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside kinase activity (GO:0019206)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						CCATATCGGCGGTATGACCGG	0.398																																																0													66	69	68					1																	77759511		2203	4300	6503	SO:0001583	missense	26289			AF062595	CCDS675.1, CCDS676.1	1p31	2008-02-05			ENSG00000154027	ENSG00000154027		"Adenylate kinases"	365	protein-coding gene	gene with protein product		608009				10215863	Standard	NM_012093		Approved		uc001dhn.3	Q9Y6K8	OTTHUMG00000009796	ENST00000354567.2:c.281G>A	1.37:g.77759511G>A	ENSP00000346577:p.Arg94Gln		Q5U622|Q6FH66|Q7Z4T5|Q86YS0|Q8N464|Q96EC9	Missense_Mutation	SNP	ENST00000354567.2	37	CCDS675.1	.	.	.	.	.	.	.	.	.	.	G	32	5.125882	0.94429	.	.	ENSG00000154027	ENST00000354567;ENST00000344720;ENST00000478407	T;T;D	0.84730	-0.57;-0.67;-1.89	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.77665	0.4164	L	0.29908	0.895	0.80722	D	1	D	0.63046	0.992	P	0.45794	0.493	T	0.81369	-0.0964	10	0.62326	D	0.03	-0.0067	19.2875	0.94084	0.0:0.0:1.0:0.0	.	94	Q9Y6K8	KAD5_HUMAN	Q	94;68;68	ENSP00000346577:R94Q;ENSP00000341430:R68Q;ENSP00000434409:R68Q	ENSP00000341430:R68Q	R	+	2	0	AK5	77532099	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.534000	0.82004	2.645000	0.89757	0.561000	0.74099	CGG		0.398	AK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026993.4	NM_174858		A	77759511	G	A	77759511	3	1	704	1	0	0	0	0	1	0	0	0	443	1116	39	1	291	1	AK5	1	77759511	Missense_Mutation	SNP	G	TCGA-KL-8335-01A-11D-2310-10	22253868	77759511	171491110	4	39156											
DNM3	26052	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	171890935	171890935	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr1:171890935T>C	ENST00000355305.5	+	2	366	c.209T>C	c.(208-210)gTg>gCg	p.V70A	DNM3_ENST00000367733.2_Missense_Mutation_p.V70A|DNM3_ENST00000520906.1_Missense_Mutation_p.V70A|DNM3_ENST00000367731.1_Missense_Mutation_p.V70A|DNM3_ENST00000358155.4_Missense_Mutation_p.V70A			Q9UQ16	DYN3_HUMAN	dynamin 3	70	Dynamin-type G.				endocytosis (GO:0006897)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|synapse assembly (GO:0007416)	dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CGACCTCTTGTGCTGCAGCTT	0.448																																																0													121	114	116					1																	171890935		1914	4123	6037	SO:0001583	missense	26052			AL136712	CCDS44276.1, CCDS60356.1	1q24.1	2013-01-10			ENSG00000197959	ENSG00000197959		"Pleckstrin homology (PH) domain containing"	29125	protein-coding gene	gene with protein product	"Dyna III"	611445				10048485	Standard	NM_015569		Approved	KIAA0820	uc001gie.4	Q9UQ16	OTTHUMG00000034913	ENST00000355305.5:c.209T>C	1.37:g.171890935T>C	ENSP00000347457:p.Val70Ala		A9Z1Y1|O14982|O95555|Q1MTM8|Q5W129|Q6P2G1|Q9H0P3|Q9H548|Q9NQ68|Q9NQN6	Missense_Mutation	SNP	ENST00000355305.5	37		.	.	.	.	.	.	.	.	.	.	T	24.3	4.514110	0.85389	.	.	ENSG00000197959	ENST00000359070;ENST00000358155;ENST00000367733;ENST00000355305;ENST00000367731;ENST00000520906	D;D;D;D;D	0.97041	-4.22;-4.22;-4.22;-4.22;-4.22	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.98349	0.9452	M	0.90145	3.09	0.45883	D	0.998739	P;D;D;P	0.56287	0.749;0.966;0.975;0.862	P;D;D;P	0.67382	0.826;0.923;0.951;0.791	D	0.99501	1.0953	10	0.87932	D	0	.	12.5617	0.56286	0.0:0.0:0.0:1.0	.	70;70;70;70	E5RHK8;Q9UQ16-2;Q9UQ16-3;Q6P2G1	.;.;.;.	A	70	ENSP00000350876:V70A;ENSP00000356707:V70A;ENSP00000347457:V70A;ENSP00000356705:V70A;ENSP00000429701:V70A	ENSP00000347457:V70A	V	+	2	0	DNM3	170157558	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.662000	0.61525	2.217000	0.71921	0.533000	0.62120	GTG		0.448	DNM3-003	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000084531.1	NM_015569		C	171890935	T	C	171890935	3	2	704	1	0	0	0	0	1	0	0	0	4675	1696	59	3	215	3	DNM3	1	171890935	Missense_Mutation	SNP	T	TCGA-KL-8335-01A-11D-2310-10	94131424	171890935	77359686	5	39157											
ENAH	55740	mdanderson.org	37	1	225755060	225755060	+	Missense_Mutation	SNP	T	T	A			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr1:225755060T>A	ENST00000366844.3	-	2	513	c.62A>T	c.(61-63)aAg>aTg	p.K21M	ENAH_ENST00000391874.2_5'UTR|ENAH_ENST00000284563.6_Missense_Mutation_p.K21M|ENAH_ENST00000366843.2_Missense_Mutation_p.K21M	NM_001008493.1|NM_018212.4	NP_001008493.1|NP_060682.2	Q8N8S7	ENAH_HUMAN	enabled homolog (Drosophila)	21	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|intracellular transport (GO:0046907)|neural tube closure (GO:0001843)|T cell receptor signaling pathway (GO:0050852)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)|synapse (GO:0045202)	WW domain binding (GO:0050699)			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		CACCCACTTCTTATTGGCATC	0.398																																																0													174	158	164					1																	225755060		2203	4300	6503	SO:0001583	missense	55740			AK001635	CCDS31040.1, CCDS31041.1	1q32.2	2013-08-06			ENSG00000154380	ENSG00000154380			18271	protein-coding gene	gene with protein product	"mammalian enabled"	609061				1420303	Standard	XM_005273182		Approved	FLJ10773, NDPP1, MENA	uc001hpc.1	Q8N8S7	OTTHUMG00000037742	ENST00000366844.3:c.62A>T	1.37:g.225755060T>A	ENSP00000355809:p.Lys21Met		D0PQI2|Q502W5|Q5T5M7|Q5VTQ9|Q5VTR0|Q9NVF3|Q9UFB8	Missense_Mutation	SNP	ENST00000366844.3	37	CCDS31041.1	.	.	.	.	.	.	.	.	.	.	T	17.70	3.453247	0.63290	.	.	ENSG00000154380	ENST00000366844;ENST00000366843;ENST00000284563;ENST00000538194	D;D;D	0.99005	-5.32;-5.32;-5.32	5.65	5.65	0.86999	EVH1 (3);Pleckstrin homology-type (1);Ran binding protein 1 (1);	0.000000	0.85682	D	0.000000	D	0.99414	0.9793	M	0.90977	3.165	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.75484	0.977;0.986	D	0.98667	1.0686	10	0.87932	D	0	-24.5772	16.1778	0.81874	0.0:0.0:0.0:1.0	.	21;21	Q8N8S7-2;Q8N8S7	.;ENAH_HUMAN	M	21;21;21;20	ENSP00000355809:K21M;ENSP00000355808:K21M;ENSP00000284563:K21M	ENSP00000284563:K21M	K	-	2	0	ENAH	223821683	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.170000	0.71920	2.279000	0.76181	0.533000	0.62120	AAG		0.398	ENAH-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000357426.2	NM_018212		A	225755060	T	A	225755060	3	1	704	1	0	0	0	0	1	0	0	0	5113	1609	56	5	1769	5	ENAH	1	225755060	Missense_Mutation	SNP	T	TCGA-KL-8335-01A-11D-2310-10	53864125	225755060	23495561	6	39158											
EXO1	9156	bcgsc.ca	37	1	242042205	242042205	+	Missense_Mutation	SNP	C	C	T	rs145789527		TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr1:242042205C>T	ENST00000366548.3	+	13	2262	c.1669C>T	c.(1669-1671)Cgt>Tgt	p.R557C	EXO1_ENST00000518483.1_Missense_Mutation_p.R557C|EXO1_ENST00000348581.5_Missense_Mutation_p.R557C	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	557					DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	5'-3' exodeoxyribonuclease activity (GO:0035312)|5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|double-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0051908)|exonuclease activity (GO:0004527)|flap endonuclease activity (GO:0048256)|metal ion binding (GO:0046872)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)|structure-specific DNA binding (GO:0043566)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			AGATGTAGCACGTAATTCAAG	0.418								Editing and processing nucleases					C|||	1	0.000199681	0.0	0.0	5008	,	,		19127	0.001		0.0	False		,,,				2504	0.0															0								C	CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	141	129	133		1669,1669,1669	1.9	0	1	dbSNP_134	133	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	EXO1	NM_003686.4,NM_006027.4,NM_130398.3	180,180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	557/804,557/847,557/847	242042205	1,13005	2203	4300	6503	SO:0001583	missense	9156			AF042282	CCDS1620.1, CCDS44336.1	1q42-q43	2008-07-18			ENSG00000174371	ENSG00000174371			3511	protein-coding gene	gene with protein product	"rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1"	606063				9685493, 9788596	Standard	NM_003686		Approved	HEX1, hExoI	uc001hzh.3	Q9UQ84	OTTHUMG00000039965	ENST00000366548.3:c.1669C>T	1.37:g.242042205C>T	ENSP00000355506:p.Arg557Cys		O60545|O75214|O75466|Q5T396|Q96IJ1|Q9UG38|Q9UNW0	Missense_Mutation	SNP	ENST00000366548.3	37	CCDS1620.1	.	.	.	.	.	.	.	.	.	.	C	9.517	1.107222	0.20714	0.0	1.16E-4	ENSG00000174371	ENST00000366548;ENST00000348581;ENST00000518483	T;T;T	0.32988	1.43;1.43;1.43	4.78	1.93	0.25924	.	2.173490	0.03320	N	0.191799	T	0.24547	0.0595	N	0.22421	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	0.28618	-1.0038	10	0.56958	D	0.05	-8.5195	8.3411	0.32243	0.0:0.737:0.0:0.263	.	556;557;557	A8K5H6;Q9UQ84-4;Q9UQ84	.;.;EXO1_HUMAN	C	557	ENSP00000355506:R557C;ENSP00000311873:R557C;ENSP00000430251:R557C	ENSP00000311873:R557C	R	+	1	0	EXO1	240108828	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.413000	0.07123	0.262000	0.21774	-0.143000	0.13931	CGT		0.418	EXO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096405.1	NM_006027		T	242042205	C	T	242042205	3	4	704	1	0	0	0	0	1	0	0	0	5302	536	19	1	1707	1	EXO1	1	242042205	Missense_Mutation	SNP	C	TCGA-KL-8335-01A-11D-2310-10	16287145	242042205	7208416	7	39159											
HNRNPU	3192	broad.mit.edu	37	1	245021520	245021520	+	Silent	SNP	G	G	A			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr1:245021520G>A	ENST00000283179.9	-	7	1450	c.1287C>T	c.(1285-1287)ggC>ggT	p.G429G	HNRNPU_ENST00000444376.2_Silent_p.G410G|HNRNPU-AS1_ENST00000475997.1_RNA			Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	429	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasmic ribonucleoprotein granule (GO:0036464)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.N405_K417delNGQDLGVAFKISK(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			TGAAGGCAACGCCAAGATCTT	0.403																																					NSCLC(33;911 1010 3329 23631 49995)											1	Deletion - In frame(1)	NS(1)											69	62	65					1																	245021520		2203	4300	6503	SO:0001819	synonymous_variant	3192			X65488	CCDS31081.1, CCDS41479.1	1q44	2011-10-24		2007-08-16	ENSG00000153187	ENSG00000153187			5048	protein-coding gene	gene with protein product		602869		HNRPU		7509195, 8068679	Standard	NM_031844		Approved	SAF-A, hnRNPU	uc001iaz.1	Q00839	OTTHUMG00000040396	ENST00000283179.9:c.1287C>T	1.37:g.245021520G>A			O75507|Q8N174|Q96HY9|Q9BQ09	Silent	SNP	ENST00000283179.9	37	CCDS41479.1																																																																																				0.403	HNRNPU-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097163.3	NM_031844		A	245021520	G	A	245021520	2	1	704	1	0	0	0	0	0	0	0	1	7275	1074	38	1		1	HNRNPU	1	245021520	Silent	SNP	G	TCGA-KL-8335-01A-11D-2310-10	2979315	245021520	4229101	8	39160											
MPHOSPH10	10199	broad.mit.edu;hgsc.bcm.edu	37	2	71366962	71366963	+	In_Frame_Ins	INS	-	-	AGG			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr2:71366962_71366963insAGG	ENST00000244230.2	+	6	1630_1631	c.1278_1279insAGG	c.(1279-1281)gat>AGGgat	p.426_427insR		NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	426					negative regulation of phosphatase activity (GO:0010923)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|rRNA processing (GO:0006364)	chromosome (GO:0005694)|nucleolus (GO:0005730)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						TTCAACTGGAAGATATCATTAA	0.337																																																0																																										SO:0001652	inframe_insertion	10199			X98494	CCDS1916.1	2p13.3	2014-06-12			ENSG00000124383	ENSG00000124383			7213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 106"	605503				8885239, 9450966	Standard	NM_005791		Approved	MPP10, MPP10P, CT90, PPP1R106	uc002sht.2	O00566	OTTHUMG00000129715	Exception_encountered	2.37:g.71366962_71366963insAGG	ENSP00000244230:p.Glu426_Asp427insArg		A0AVJ8	In_Frame_Ins	INS	ENST00000244230.2	37	CCDS1916.1																																																																																				0.337	MPHOSPH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251924.2	NM_005791		AGG	71366963	-	AGG	71366962	7	5	704	1	0	1	1	0	0	0	0	0	9727	69	3	0	1300	0	MPHOSPH10	2	71366962	In_Frame_Ins	INS	-	TCGA-KL-8335-01A-11D-2310-10		71366962	171832411	9	39161	318	2									
MPHOSPH10	10199	bcgsc.ca	37	2	71366963	71366964	+	In_Frame_Ins	INS	-	-	AGG	rs536292890		TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr2:71366963_71366964insAGG	ENST00000244230.2	+	6	1631_1632	c.1279_1280insAGG	c.(1279-1281)gat>gAGGat	p.426_427insE		NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	426					negative regulation of phosphatase activity (GO:0010923)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|rRNA processing (GO:0006364)	chromosome (GO:0005694)|nucleolus (GO:0005730)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						TCAACTGGAAGATATCATTAAA	0.337																																																0																																										SO:0001652	inframe_insertion	10199			X98494	CCDS1916.1	2p13.3	2014-06-12			ENSG00000124383	ENSG00000124383			7213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 106"	605503				8885239, 9450966	Standard	NM_005791		Approved	MPP10, MPP10P, CT90, PPP1R106	uc002sht.2	O00566	OTTHUMG00000129715	Exception_encountered	2.37:g.71366963_71366964insAGG	ENSP00000244230:p.Glu426_Glu426dup		A0AVJ8	In_Frame_Ins	INS	ENST00000244230.2	37	CCDS1916.1																																																																																				0.337	MPHOSPH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251924.2	NM_005791		AGG	71366964	-	AGG	71366963	7	5	704	1	0	1	1	0	0	0	0	0	9727	942	33	0	1301	0	MPHOSPH10	2	71366963	In_Frame_Ins	INS	-	TCGA-KL-8335-01A-11D-2310-10	1	71366963	171832410	10	39162	318	2									
PCGF1	84759	broad.mit.edu;hgsc.bcm.edu	37	2	74734182	74734183	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr2:74734182_74734183delCT	ENST00000233630.6	-	2	1096_1097	c.185_186delAG	c.(184-186)gagfs	p.E62fs	LBX2-AS1_ENST00000548978.2_RNA|LBX2-AS1_ENST00000603175.1_RNA|PCGF1_ENST00000480844.2_5'UTR	NM_032673.2	NP_116062.2	Q9BSM1	PCGF1_HUMAN	polycomb group ring finger 1	62					histone H2A monoubiquitination (GO:0035518)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(2)	12						TATGAAGACACTCTGTGATGGT	0.515																																																0																																										SO:0001589	frameshift_variant	84759			AF087884	CCDS1946.2	2p13.1	2013-01-09			ENSG00000115289	ENSG00000115289		"RING-type (C3HC4) zinc fingers", "Polycomb group ring fingers"	17615	protein-coding gene	gene with protein product		610231				11287196	Standard	NM_032673		Approved	NSPC1, RNF68, MGC10882	uc002slz.3	Q9BSM1	OTTHUMG00000129954	ENST00000233630.6:c.185_186delAG	2.37:g.74734184_74734185delCT	ENSP00000233630:p.Glu62fs		Q7Z506	Frame_Shift_Del	DEL	ENST00000233630.6	37	CCDS1946.2																																																																																				0.515	PCGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252216.1	NM_032673		-	74734183	CT	-	74734182	7	5	704	1	0	1	0	1	0	0	0	0	11576	564	20	0	625	0	PCGF1	2	74734182	Frame_Shift_Del	DEL	CT	TCGA-KL-8335-01A-11D-2310-10	3367219	74734182	168465191	11	39163	319	2									
PCGF1	84759	bcgsc.ca	37	2	74734183	74734184	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr2:74734183_74734184delCT	ENST00000233630.6	-	2	1095_1096	c.184_185delAG	c.(184-186)aggfs	p.R62fs	LBX2-AS1_ENST00000548978.2_RNA|LBX2-AS1_ENST00000603175.1_RNA|PCGF1_ENST00000480844.2_5'UTR	NM_032673.2	NP_116062.2	Q9BSM1	PCGF1_HUMAN	polycomb group ring finger 1	62					histone H2A monoubiquitination (GO:0035518)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(2)	12						ATGAAGACACTCTGTGATGGTG	0.52																																																0																																										SO:0001589	frameshift_variant	84759			AF087884	CCDS1946.2	2p13.1	2013-01-09			ENSG00000115289	ENSG00000115289		"RING-type (C3HC4) zinc fingers", "Polycomb group ring fingers"	17615	protein-coding gene	gene with protein product		610231				11287196	Standard	NM_032673		Approved	NSPC1, RNF68, MGC10882	uc002slz.3	Q9BSM1	OTTHUMG00000129954	ENST00000233630.6:c.184_185delAG	2.37:g.74734183_74734184delCT	ENSP00000233630:p.Arg62fs		Q7Z506	Frame_Shift_Del	DEL	ENST00000233630.6	37	CCDS1946.2																																																																																				0.52	PCGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252216.1	NM_032673		-	74734184	CT	-	74734183	7	5	704	1	0	1	0	1	0	0	0	0	11576	1551	54	0	626	0	PCGF1	2	74734183	Frame_Shift_Del	DEL	CT	TCGA-KL-8335-01A-11D-2310-10	1	74734183	168465190	12	39164	319	2									
RETSAT	54884	hgsc.bcm.edu;ucsc.edu	37	2	85573123	85573123	+	Silent	SNP	C	C	A			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr2:85573123C>A	ENST00000295802.4	-	6	1204	c.1092G>T	c.(1090-1092)ctG>ctT	p.L364L	RETSAT_ENST00000263854.6_Silent_p.L364L|RETSAT_ENST00000475624.2_5'UTR|RETSAT_ENST00000457495.2_Silent_p.L303L	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	364					oxidation-reduction process (GO:0055114)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	all-trans-retinol 13,14-reductase activity (GO:0051786)|oxidoreductase activity (GO:0016491)			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	CGTTCCCCGGCAGTAGGTGTT	0.587																																																0													127	114	118					2																	85573123		2203	4300	6503	SO:0001819	synonymous_variant	54884			AK075261	CCDS1972.1	2p11.2	2008-02-05			ENSG00000042445	ENSG00000042445	1.3.99.23		25991	protein-coding gene	gene with protein product						12975309, 15358783	Standard	NM_017750		Approved	FLJ20296	uc002spd.3	Q6NUM9	OTTHUMG00000154611	ENST00000295802.4:c.1092G>T	2.37:g.85573123C>A			A6NIK3|Q53R95|Q53SA9|Q6UX05|Q8N2H5|Q96FA4|Q9NXE5	Silent	SNP	ENST00000295802.4	37	CCDS1972.1	.	.	.	.	.	.	.	.	.	.	C	7.184	0.590258	0.13812	.	.	ENSG00000042445	ENST00000449375	.	.	.	5.4	2.58	0.30949	.	.	.	.	.	T	0.52948	0.1766	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40720	-0.9548	4	.	.	.	-14.5377	4.9111	0.13821	0.1676:0.6546:0.0:0.1777	.	.	.	.	F	153	.	.	C	-	2	0	RETSAT	85426634	0.999000	0.42202	0.227000	0.23927	0.128000	0.20619	0.670000	0.25157	0.238000	0.21222	0.467000	0.42956	TGC		0.587	RETSAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252489.1	NM_017750		A	85573123	C	A	85573123	2	1	704	1	0	0	0	0	0	0	0	1	13244	697	25	4		4	RETSAT	2	85573123	Silent	SNP	C	TCGA-KL-8335-01A-11D-2310-10	10838940	85573123	157626250	13	39165											
TUBA3D	113457	mdanderson.org	37	2	132240363	132240363	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr2:132240363A>G	ENST00000321253.6	+	5	1402	c.1295A>G	c.(1294-1296)tAt>tGt	p.Y432C	MZT2A_ENST00000410036.2_5'Flank	NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	432					'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)		GAGAAGGATTATGAAGAGGTG	0.602																																					Ovarian(137;2059 2432 35543 39401)											0													142	144	143					2																	132240363		2203	4300	6503	SO:0001583	missense	113457			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.1295A>G	2.37:g.132240363A>G	ENSP00000326042:p.Tyr432Cys		A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000321253.6	37	CCDS33290.1	.	.	.	.	.	.	.	.	.	.	g	8.730	0.916383	0.17907	.	.	ENSG00000075886	ENST00000321253;ENST00000341158	D	0.94497	-3.44	2.41	2.41	0.29592	Tubulin, C-terminal (1);Tubulin/FtsZ, C-terminal (1);	0.000000	0.43416	U	0.000561	D	0.98185	0.9400	H	0.99435	4.565	0.47621	D	0.999475	D	0.71674	0.998	D	0.79784	0.993	D	0.96794	0.9584	10	0.72032	D	0.01	.	8.339	0.32232	1.0:0.0:0.0:0.0	.	432	Q13748	TBA3C_HUMAN	C	432;400	ENSP00000326042:Y432C	ENSP00000326042:Y432C	Y	+	2	0	TUBA3D	131956833	1.000000	0.71417	0.986000	0.45419	0.199000	0.23934	5.545000	0.67237	1.095000	0.41419	0.163000	0.16589	TAT		0.602	TUBA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331800.2	NM_080386		G	132240363	A	G	132240363	3	3	704	1	0	0	0	0	1	0	0	0	16752	449	16	3	1313	3	TUBA3D	2	132240363	Missense_Mutation	SNP	A	TCGA-KL-8335-01A-11D-2310-10	46667240	132240363	110959010	14	39166											
TTN	7273	mdanderson.org;bcgsc.ca	37	2	179403401	179403401	+	Missense_Mutation	SNP	C	C	T	rs72648276		TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr2:179403401C>T	ENST00000591111.1	-	304	94456	c.94232G>A	c.(94231-94233)cGt>cAt	p.R31411H	TTN_ENST00000460472.2_Missense_Mutation_p.R23987H|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R24112H|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R33052H|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000588257.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R24179H|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R30484H|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	31411	Fibronectin type-III 129. {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)			GTCCTTAATACGTTCCTTATT	0.443																																																0								C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,3873		0,1,1936	255	249	251		71960,91451,72335,72536	5.9	1	2	dbSNP_130	251	0,8260		0,0,4130	no	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	29,29,29,29	0,1,6066	TT,TC,CC		0.0,0.0258,0.0082	probably-damaging,probably-damaging,probably-damaging,probably-damaging	23987/26927,30484/33424,24112/27052,24179/27119	179403401	1,12133	1937	4130	6067	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.94232G>A	2.37:g.179403401C>T	ENSP00000465570:p.Arg31411His		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	19.57	3.852156	0.71719	2.58E-4	0.0	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59772	0.24;0.24;0.24;0.24	5.87	5.87	0.94306	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.67268	0.2875	L	0.33792	1.035	0.52501	D	0.999955	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.69824	0.966;0.966;0.966;0.966	T	0.68372	-0.5426	9	0.87932	D	0	.	16.8289	0.85939	0.129:0.871:0.0:0.0	.	23987;24112;24179;31411	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	30484;23987;24179;24112;23984	ENSP00000343764:R30484H;ENSP00000434586:R23987H;ENSP00000340554:R24179H;ENSP00000352154:R24112H	ENSP00000340554:R24179H	R	-	2	0	TTN	179111647	1.000000	0.71417	0.990000	0.47175	0.902000	0.53008	6.037000	0.70956	2.941000	0.99782	0.655000	0.94253	CGT		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179403401	C	T	179403401	3	4	704	1	0	0	0	0	1	0	0	0	16740	536	19	1	8860	1	TTN	2	179403401	Missense_Mutation	SNP	C	TCGA-KL-8335-01A-11D-2310-10	47163038	179403401	63795972	15	39167											
STK11IP	114790	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	2	220473923	220473923	+	Silent	SNP	C	C	T	rs185836682	byFrequency	TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr2:220473923C>T	ENST00000456909.1	+	16	2004	c.1914C>T	c.(1912-1914)caC>caT	p.H638H	STK11IP_ENST00000295641.10_Silent_p.H649H			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	649					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)		CTGATGCCCACGCAGCTGTCC	0.652													C|||	5	0.000998403	0.0	0.0	5008	,	,		17182	0.0		0.0	False		,,,				2504	0.0051															0													27	27	27					2																	220473923		2032	4181	6213	SO:0001819	synonymous_variant	114790			AF450267	CCDS46521.1	2q35	2008-06-03			ENSG00000144589	ENSG00000144589			19184	protein-coding gene	gene with protein product	"LKB1 interacting protein"	607172				11741830	Standard	NM_052902		Approved	LIP1, KIAA1898, LKB1IP, STK11IP1	uc002vml.3	Q8N1F8	OTTHUMG00000059239	ENST00000456909.1:c.1914C>T	2.37:g.220473923C>T			Q8NAW9|Q8WXE4|Q96CN3|Q96PY9	Silent	SNP	ENST00000456909.1	37																																																																																					0.652	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000131432.1	NM_052902		T	220473923	C	T	220473923	2	4	704	1	0	0	0	0	0	0	0	1	15293	535	19	1		1	STK11IP	2	220473923	Silent	SNP	C	TCGA-KL-8335-01A-11D-2310-10	41070522	220473923	22725450	16	39168											
PRR21	643905	mdanderson.org	37	2	240982219	240982219	+	Missense_Mutation	SNP	A	A	G	rs74006013		TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr2:240982219A>G	ENST00000408934.1	-	1	180	c.181T>C	c.(181-183)Tcc>Ccc	p.S61P		NM_001080835.1	NP_001074304.1	Q8WXC7	PRR21_HUMAN	proline rich 21	61	Pro-rich.									NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	29						AGAGCCGTGGATGAAGGGCCG	0.607																																																0													130	115	120					2																	240982219		2203	4300	6503	SO:0001583	missense	643905			AF453950	CCDS33417.1	2q37.3	2009-04-20			ENSG00000221961	ENSG00000221961			33866	protein-coding gene	gene with protein product							Standard	NM_001080835		Approved		uc010zod.2	Q8WXC7	OTTHUMG00000159174	ENST00000408934.1:c.181T>C	2.37:g.240982219A>G	ENSP00000386166:p.Ser61Pro			Missense_Mutation	SNP	ENST00000408934.1	37	CCDS33417.1	.	.	.	.	.	.	.	.	.	.	N	6.168	0.399216	0.11696	.	.	ENSG00000221961	ENST00000408934;ENST00000486799	T;T	0.26223	1.75;1.75	1.5	-2.16	0.07080	.	.	.	.	.	T	0.10637	0.0260	N	0.08118	0	0.09310	N	1	B	0.15719	0.014	B	0.17722	0.019	T	0.25293	-1.0136	9	0.54805	T	0.06	.	2.7666	0.05322	0.3479:0.0:0.4377:0.2145	.	61	Q8WXC7	PRR21_HUMAN	P	61	ENSP00000386166:S61P;ENSP00000418240:S61P	ENSP00000386166:S61P	S	-	1	0	PRR21	240630892	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.540000	0.00437	-0.607000	0.05738	-0.484000	0.04775	TCC		0.607	PRR21-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080835		G	240982219	A	G	240982219	3	3	704	1	0	0	0	0	1	0	0	0	12597	333	12	3	991	3	PRR21	2	240982219	Missense_Mutation	SNP	A	TCGA-KL-8335-01A-11D-2310-10	20508296	240982219	2217154	17	39169											
HDLBP	3069	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	2	242178175	242178175	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr2:242178175T>C	ENST00000391975.1	-	20	2865	c.2638A>G	c.(2638-2640)Ata>Gta	p.I880V	HDLBP_ENST00000391976.2_Missense_Mutation_p.I880V|HDLBP_ENST00000310931.4_Missense_Mutation_p.I880V|HDLBP_ENST00000427183.2_Missense_Mutation_p.I847V	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	880	KH 10. {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)		TTCTGGGGTATAGCACATTCT	0.423																																																0													206	225	219					2																	242178175		2203	4300	6503	SO:0001583	missense	3069				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.2638A>G	2.37:g.242178175T>C	ENSP00000375836:p.Ile880Val		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	ENST00000391975.1	37	CCDS2547.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.96|16.96	3.265395|3.265395	0.59431|0.59431	.|.	.|.	ENSG00000115677|ENSG00000115677	ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183|ENST00000373292	T;T;T;T|.	0.27104|.	1.69;1.69;1.69;1.69|.	6.05|6.05	6.05|6.05	0.98169|0.98169	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72622|0.72622	0.3483|0.3483	M|M	0.64080|0.64080	1.96|1.96	0.80722|0.80722	D|D	1|1	B;B|.	0.31769|.	0.086;0.339|.	B;B|.	0.42916|.	0.402;0.206|.	T|T	0.71097|0.71097	-0.4691|-0.4691	10|5	0.18276|.	T|.	0.48|.	-15.2285|-15.2285	16.6|16.6	0.84812|0.84812	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	847;880|.	E7EM71;Q00341|.	.;VIGLN_HUMAN|.	V|C	880;880;880;847|688	ENSP00000375836:I880V;ENSP00000375837:I880V;ENSP00000312042:I880V;ENSP00000399139:I847V|.	ENSP00000312042:I880V|.	I|Y	-|-	1|2	0|0	HDLBP|HDLBP	241826848|241826848	1.000000|1.000000	0.71417|0.71417	0.090000|0.090000	0.20809|0.20809	0.994000|0.994000	0.84299|0.84299	7.955000|7.955000	0.87856|0.87856	2.323000|2.323000	0.78572|0.78572	0.533000|0.533000	0.62120|0.62120	ATA|TAT		0.423	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346		C	242178175	T	C	242178175	3	2	704	1	0	0	0	0	1	0	0	0	7027	1406	49	3	1204	3	HDLBP	2	242178175	Missense_Mutation	SNP	T	TCGA-KL-8335-01A-11D-2310-10	1195956	242178175	1021198	18	39170											
ARPP21	10777	mdanderson.org;bcgsc.ca	37	3	35833882	35833882	+	Missense_Mutation	SNP	C	C	A			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr3:35833882C>A	ENST00000187397.4	+	19	2497	c.2041C>A	c.(2041-2043)Cca>Aca	p.P681T	ARPP21_ENST00000444190.1_Missense_Mutation_p.P662T|ARPP21_ENST00000337271.5_Missense_Mutation_p.P662T|ARPP21_ENST00000458225.1_Missense_Mutation_p.P682T|ARPP21_ENST00000417925.1_Missense_Mutation_p.P682T|ARPP21_ENST00000476052.1_3'UTR	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	681	Gln-rich.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						AGGTTACCAGCCAGTCTTGTC	0.468																																																0													162	170	167					3																	35833882		2203	4300	6503	SO:0001583	missense	10777			AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"R3H domain containing 3"	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.2041C>A	3.37:g.35833882C>A	ENSP00000187397:p.Pro681Thr		B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	ENST00000187397.4	37	CCDS2661.1	.	.	.	.	.	.	.	.	.	.	C	10.23	1.293133	0.23564	.	.	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79	5.71	3.92	0.45320	.	0.135690	0.50627	D	0.000118	T	0.55784	0.1942	L	0.60455	1.87	0.40003	D	0.975197	D;D;P;D	0.65815	0.995;0.957;0.819;0.995	D;P;B;D	0.68483	0.958;0.756;0.412;0.958	T	0.54430	-0.8295	10	0.20046	T	0.44	-4.9886	5.9087	0.19016	0.2736:0.5865:0.0:0.1399	.	682;204;681;662	Q9UBL0-3;Q9UBL0-5;Q9UBL0;Q9UBL0-4	.;.;ARP21_HUMAN;.	T	682;662;662;681;682	ENSP00000414351:P682T;ENSP00000337792:P662T;ENSP00000405276:P662T;ENSP00000187397:P681T;ENSP00000412326:P682T	ENSP00000187397:P681T	P	+	1	0	ARPP21	35808886	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	0.915000	0.28638	0.755000	0.32990	0.655000	0.94253	CCA		0.468	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399		A	35833882	C	A	35833882	3	1	704	1	0	0	0	0	1	0	0	0	978	739	26	4	2120	4	ARPP21	3	35833882	Missense_Mutation	SNP	C	TCGA-KL-8335-01A-11D-2310-10		35833882	162188548	19	39171											
PXK	54899	broad.mit.edu	37	3	58395318	58395318	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr3:58395318delA	ENST00000356151.2	+	15	1477	c.1368delA	c.(1366-1368)agafs	p.R456fs	PXK_ENST00000536660.1_Frame_Shift_Del_p.R319fs|PXK_ENST00000484288.1_Frame_Shift_Del_p.R456fs|PXK_ENST00000383715.4_Frame_Shift_Del_p.R439fs|PXK_ENST00000463280.1_Frame_Shift_Del_p.R423fs|PXK_ENST00000383716.3_Frame_Shift_Del_p.R423fs|PXK_ENST00000302779.5_Frame_Shift_Del_p.R439fs|PXK_ENST00000479241.1_Frame_Shift_Del_p.R439fs	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)		AGGAGGAAAGAAAAAAAAGAA	0.418																																																0													50	50	50					3																	58395318		2202	4300	6502	SO:0001589	frameshift_variant	54899			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.1368delA	3.37:g.58395318delA	ENSP00000348472:p.Arg456fs			Frame_Shift_Del	DEL	ENST00000356151.2	37	CCDS2889.1																																																																																				0.418	PXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353499.1	NM_017771		-	58395318	A	-	58395318	7	5	704	1	0	1	0	1	0	0	0	0	12855	243	9	0	1426	0	PXK	3	58395318	Frame_Shift_Del	DEL	A	TCGA-KL-8335-01A-11D-2310-10	22561436	58395318	139627112	20	39172											
NFKBIZ	64332	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	3	101573954	101573954	+	Missense_Mutation	SNP	G	G	T			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr3:101573954G>T	ENST00000326172.5	+	7	1607	c.1492G>T	c.(1492-1494)Gat>Tat	p.D498Y	NFKBIZ_ENST00000394054.2_Missense_Mutation_p.D398Y|NFKBIZ_ENST00000326151.5_Missense_Mutation_p.D376Y	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	498	Interaction with NFKB1/p50. {ECO:0000250}.				inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						CATTGTGCAGGATCTGGTGAA	0.488																																																0													80	81	81					3																	101573954		2203	4300	6503	SO:0001583	missense	64332			AF548362	CCDS2946.1, CCDS43123.1	3p12-q12	2013-01-10			ENSG00000144802	ENSG00000144802		"Ankyrin repeat domain containing"	29805	protein-coding gene	gene with protein product	"IL-1 inducible nuclear ankyrin-repeat protein"	608004				12565889, 16513645	Standard	NM_031419		Approved	MAIL, FLJ34463, INAP	uc003dvp.3	Q9BYH8	OTTHUMG00000159194	ENST00000326172.5:c.1492G>T	3.37:g.101573954G>T	ENSP00000325663:p.Asp498Tyr		B3KNR2|D3DN54|Q8IUL4|Q8NAZ8	Missense_Mutation	SNP	ENST00000326172.5	37	CCDS2946.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.924473	0.52653	.	.	ENSG00000144802	ENST00000483180;ENST00000394054;ENST00000326151;ENST00000326172	T;T;T;T	0.62364	0.03;0.03;0.03;0.03	5.58	5.58	0.84498	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.54062	0.1835	N	0.01729	-0.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.53913	-0.8371	10	0.02654	T	1	-14.7808	19.922	0.97089	0.0:0.0:1.0:0.0	.	376;498	Q9BYH8-3;Q9BYH8	.;IKBZ_HUMAN	Y	398;398;376;498	ENSP00000419800:D398Y;ENSP00000377618:D398Y;ENSP00000325593:D376Y;ENSP00000325663:D498Y	ENSP00000325593:D376Y	D	+	1	0	NFKBIZ	103056644	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.399000	0.97285	2.780000	0.95670	0.655000	0.94253	GAT		0.488	NFKBIZ-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353793.1	NM_031419		T	101573954	G	T	101573954	3	4	704	1	0	0	0	0	1	0	0	0	10385	1174	41	4	1518	4	NFKBIZ	3	101573954	Missense_Mutation	SNP	G	TCGA-KL-8335-01A-11D-2310-10	43178636	101573954	96448476	21	39173											
KIAA2018	205717	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	3	113375944	113375944	+	Missense_Mutation	SNP	G	G	C			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr3:113375944G>C	ENST00000478658.1	-	5	4602	c.4585C>G	c.(4585-4587)Cag>Gag	p.Q1529E	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Missense_Mutation_p.Q1529E			Q68DE3	K2018_HUMAN	KIAA2018	1529	Gln-rich.					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						TGGGTGCCCTGAACAAGATTC	0.517																																																0													111	111	111					3																	113375944		2016	4187	6203	SO:0001583	missense	205717			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.4585C>G	3.37:g.113375944G>C	ENSP00000420721:p.Gln1529Glu		Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	ENST00000478658.1	37	CCDS43133.1	.	.	.	.	.	.	.	.	.	.	G	17.31	3.358247	0.61403	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.30981	1.51;1.51	5.91	5.01	0.66863	.	0.343150	0.31404	N	0.007717	T	0.23330	0.0564	L	0.27053	0.805	0.25898	N	0.983394	B	0.29716	0.255	B	0.21917	0.037	T	0.08106	-1.0738	10	0.38643	T	0.18	-2.0295	16.7864	0.85575	0.0:0.1291:0.8709:0.0	.	1529	Q68DE3	K2018_HUMAN	E	1529	ENSP00000320794:Q1529E;ENSP00000420721:Q1529E	ENSP00000320794:Q1529E	Q	-	1	0	KIAA2018	114858634	1.000000	0.71417	0.991000	0.47740	0.993000	0.82548	7.031000	0.76491	1.444000	0.47605	0.655000	0.94253	CAG		0.517	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		C	113375944	G	C	113375944	3	2	704	1	0	0	0	0	1	0	0	0	8270	1299	45	4	2156	4	KIAA2018	3	113375944	Missense_Mutation	SNP	G	TCGA-KL-8335-01A-11D-2310-10	11801990	113375944	84646486	22	39174											
DRD5	1816	mdanderson.org	37	4	9784542	9784542	+	Missense_Mutation	SNP	A	A	C	rs2227851		TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr4:9784542A>C	ENST00000304374.2	+	1	1285	c.889A>C	c.(889-891)Acc>Ccc	p.T297P		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	297			T -> P (in dbSNP:rs2227851).		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)	GGTTCTCAAGACCCTGTCGGT	0.632																																																0													54	51	52					4																	9784542		2202	4297	6499	SO:0001583	missense	1816			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.889A>C	4.37:g.9784542A>C	ENSP00000306129:p.Thr297Pro		B2R9S3|Q8NEQ8	Missense_Mutation	SNP	ENST00000304374.2	37	CCDS3405.1	.	.	.	.	.	.	.	.	.	.	a	19.24	3.788678	0.70337	.	.	ENSG00000169676	ENST00000304374	T	0.40225	1.04	4.73	4.73	0.59995	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.79879	0.4522	H	0.99668	4.69	0.09310	P	0.999999880898	D	0.89917	1.0	D	0.97110	1.0	D	0.89804	0.3977	9	0.87932	D	0	.	13.5854	0.61928	1.0:0.0:0.0:0.0	rs2227851	297	P21918	DRD5_HUMAN	P	297	ENSP00000306129:T297P	ENSP00000306129:T297P	T	+	1	0	DRD5	9393640	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	8.711000	0.91396	1.990000	0.58119	0.377000	0.23210	ACC		0.632	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			C	9784542	A	C	9784542	3	2	704	1	0	0	0	0	1	0	0	0	4762	275	10	5	891	5	DRD5	4	9784542	Missense_Mutation	SNP	A	TCGA-KL-8335-01A-11D-2310-10		9784542	181369734	23	39175											
ANAPC4	29945	broad.mit.edu;mdanderson.org	37	4	25415322	25415322	+	Silent	SNP	G	G	A			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr4:25415322G>A	ENST00000315368.3	+	22	1723	c.1581G>A	c.(1579-1581)agG>agA	p.R527R	ANAPC4_ENST00000510092.1_Silent_p.R528R	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	527					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)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				TTGTGAAAAGGCGGATGGAGA	0.353																																																0													118	116	117					4																	25415322		2203	4300	6503	SO:0001819	synonymous_variant	29945			AF191338	CCDS3434.1, CCDS68684.1	4p15.31	2011-06-15			ENSG00000053900	ENSG00000053900		"Anaphase promoting complex subunits"	19990	protein-coding gene	gene with protein product		606947				6180011	Standard	NM_013367		Approved	APC4	uc003gro.3	Q9UJX5	OTTHUMG00000097753	ENST00000315368.3:c.1581G>A	4.37:g.25415322G>A			A8K8H1|E9PCR4|Q6PCC6|Q9NSH6	Silent	SNP	ENST00000315368.3	37	CCDS3434.1																																																																																				0.353	ANAPC4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214986.1	NM_013367		A	25415322	G	A	25415322	2	1	704	1	0	0	0	0	0	0	0	1	604	1194	42	2		2	ANAPC4	4	25415322	Silent	SNP	G	TCGA-KL-8335-01A-11D-2310-10	15630780	25415322	165738954	24	39176											
DSPP	1834	broad.mit.edu	37	4	88536147	88536155	+	In_Frame_Del	DEL	ACAGCAGCA	ACAGCAGCA	-			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	ACAGCAGCA	ACAGCAGCA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr4:88536147_88536155delACAGCAGCA	ENST00000282478.7	+	4	2366_2374	c.2333_2341delACAGCAGCA	c.(2332-2343)gacagcagcaac>gac	p.SSN779del	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_In_Frame_Del_p.SSN779del			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	779	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		gatagtagtgacagcagcaacagcagtga	0.502																																																0																																										SO:0001651	inframe_deletion	1834			AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.2333_2341delACAGCAGCA	4.37:g.88536147_88536155delACAGCAGCA	ENSP00000282478:p.Ser779_Asn781del		A8MUI0|O95815	In_Frame_Del	DEL	ENST00000282478.7	37	CCDS43248.1																																																																																				0.502	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		-	88536155	ACAGCAGCA	-	88536147	7	5	704	1	0	1	0	1	0	0	0	0	4784	275	10	0	2347	0	DSPP	4	88536147	In_Frame_Del	DEL	ACAGCAGCA	TCGA-KL-8335-01A-11D-2310-10	63120825	88536147	102618129	25	39177											
ADH1B	125	broad.mit.edu;mdanderson.org	37	4	100234996	100234996	+	Silent	SNP	G	G	A			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr4:100234996G>A	ENST00000305046.8	-	6	877	c.810C>T	c.(808-810)atC>atT	p.I270I	ADH1B_ENST00000394887.3_Silent_p.I230I			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	270					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)	CAAGCCGACCGATGACTTCAA	0.438																																																0													210	211	210					4																	100234996		2203	4300	6503	SO:0001819	synonymous_variant	125			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.810C>T	4.37:g.100234996G>A			A8MYN5|B4DRS9|B4DVC3|Q13711|Q4ZGI9|Q96KI7	Silent	SNP	ENST00000305046.8	37	CCDS34033.1																																																																																				0.438	ADH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364853.1	NM_000668		A	100234996	G	A	100234996	2	1	704	1	0	0	0	0	0	0	0	1	308	1048	37	1		1	ADH1B	4	100234996	Silent	SNP	G	TCGA-KL-8335-01A-11D-2310-10	11698849	100234996	90919280	26	39178											
CENPE	1062	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	4	104101509	104101509	+	Missense_Mutation	SNP	G	G	C	rs528315425		TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr4:104101509G>C	ENST00000265148.3	-	13	1290	c.1201C>G	c.(1201-1203)Ctg>Gtg	p.L401V	CENPE_ENST00000509120.1_5'UTR|CENPE_ENST00000380026.3_Missense_Mutation_p.L401V	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	401					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)		GAGGTCACCAGCATCCGTGTT	0.368																																																0													128	131	130					4																	104101509		2203	4300	6503	SO:0001583	missense	1062			Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"Kinesins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1856	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 61"	117143	"centromere protein E (312kD)"			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.1201C>G	4.37:g.104101509G>C	ENSP00000265148:p.Leu401Val		A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.532371	0.45073	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026;ENST00000503705	T;T;T	0.56941	0.43;0.43;0.43	5.23	3.47	0.39725	.	.	.	.	.	T	0.52933	0.1765	N	0.17248	0.465	0.36330	D	0.858786	D;P	0.89917	1.0;0.615	D;B	0.85130	0.997;0.219	T	0.57969	-0.7719	9	0.36615	T	0.2	.	9.7801	0.40643	0.2228:0.0:0.7772:0.0	.	401;401	Q02224-3;Q02224	.;CENPE_HUMAN	V	401	ENSP00000265148:L401V;ENSP00000369365:L401V;ENSP00000423981:L401V	ENSP00000265148:L401V	L	-	1	2	CENPE	104320958	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.467000	0.45093	1.336000	0.45506	0.563000	0.77884	CTG		0.368	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				C	104101509	G	C	104101509	3	2	704	1	0	0	0	0	1	0	0	0	3232	962	34	4	7052	4	CENPE	4	104101509	Missense_Mutation	SNP	G	TCGA-KL-8335-01A-11D-2310-10	3866513	104101509	87052767	27	39179											
KIAA0947	23379	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	5	5489408	5489408	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr5:5489408G>T	ENST00000296564.7	+	19	6988	c.6766G>T	c.(6766-6768)Gaa>Taa	p.E2256*		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		2256					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						CTGCCTAGAGGAAGTCAGTGC	0.522																																																0													43	46	45					5																	5489408		2065	4204	6269	SO:0001587	stop_gained	23379																														ENST00000296564.7:c.6766G>T	5.37:g.5489408G>T	ENSP00000296564:p.Glu2256*		Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Nonsense_Mutation	SNP	ENST00000296564.7	37	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	G	46	12.447786	0.99668	.	.	ENSG00000164151	ENST00000296564	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.48087	D	0.999588	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-16.4235	15.3318	0.74219	0.0:0.0:1.0:0.0	.	.	.	.	X	2256	.	ENSP00000296564:E2256X	E	+	1	0	KIAA0947	5542408	0.998000	0.40836	0.774000	0.31636	0.012000	0.07955	3.987000	0.56944	2.763000	0.94921	0.650000	0.86243	GAA		0.522	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			T	5489408	G	T	5489408	4	4	704	1	0	0	0	0	0	1	0	0	8204	1175	41	4	6840	4	KIAA0947	5	5489408	Nonsense_Mutation	SNP	G	TCGA-KL-8335-01A-11D-2310-10		5489408	175425852	28	39180											
DIMT1L	27292	broad.mit.edu;hgsc.bcm.edu	37	5	61699551	61699570	+	Frame_Shift_Del	DEL	CCTGCCGCCCGCGGCGGCGG	CCTGCCGCCCGCGGCGGCGG	-	rs367686764		TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	CCTGCCGCCCGCGGCGGCGG	CCTGCCGCCCGCGGCGGCGG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr5:61699551_61699570delCCTGCCGCCCGCGGCGGCGG	ENST00000199320.4	-	1	190_209	c.30_49delCCGCCGCCGCGGGCGGCAGG	c.(28-51)ggccgccgccgcgggcggcaggagfs	p.RRRGRQE11fs	DIMT1_ENST00000506390.1_Frame_Shift_Del_p.RRRGRQE11fs|KIF2A_ENST00000509663.2_Intron	NM_014473.2	NP_055288.1	Q9UNQ2	DIM1_HUMAN	DIM1 dimethyladenosine transferase 1 homolog (S. cerevisiae)	11						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	18S rRNA (adenine(1779)-N(6)/adenine(1780)-N(6))-dimethyltransferase activity (GO:0052909)|poly(A) RNA binding (GO:0044822)|rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)										CGGCGCTGCTCCTGCCGCCCGCGGCGGCGGCCGATGGCCC	0.705																																																0																																										SO:0001589	frameshift_variant	27292			AF102147	CCDS3981.1	5q12.1	2011-08-11	2011-08-11	2011-08-11	ENSG00000086189	ENSG00000086189			30217	protein-coding gene	gene with protein product		612499	"DIM1 dimethyladenosine transferase 1-like (S. cerevisiae)"	DIMT1L		11124703	Standard	NM_014473		Approved	HSA9761	uc003jta.3	Q9UNQ2	OTTHUMG00000131223	ENST00000199320.4:c.30_49delCCGCCGCCGCGGGCGGCAGG	5.37:g.61699551_61699570delCCTGCCGCCCGCGGCGGCGG	ENSP00000199320:p.Arg11fs		O76025|Q9BU77|Q9UES1	Frame_Shift_Del	DEL	ENST00000199320.4	37	CCDS3981.1																																																																																				0.705	DIMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253967.1	NM_014473		-	61699570	CCTGCCGCCCGCGGCGGCGG	-	61699551	7	5	704	1	0	1	0	1	0	0	0	0	4525	864	30	0	940	0	DIMT1L	5	61699551	Frame_Shift_Del	DEL	CCTGCCGCCCGCGGCGGCGG	TCGA-KL-8335-01A-11D-2310-10	56210143	61699551	119215709	29	39181	320	2									
DIMT1L	27292	bcgsc.ca	37	5	61699552	61699571	+	Frame_Shift_Del	DEL	CCTGCCGCCCGCGGCGGCGG	CCTGCCGCCCGCGGCGGCGG	-	rs367686764		TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	CCTGCCGCCCGCGGCGGCGG	CCTGCCGCCCGCGGCGGCGG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr5:61699552_61699571delCCTGCCGCCCGCGGCGGCGG	ENST00000199320.4	-	1	189_208	c.29_48delCCGCCGCCGCGGGCGGCAGG	c.(28-48)gccgccgccgcgggcggcaggfs	p.AAAAGGR10fs	DIMT1_ENST00000506390.1_Frame_Shift_Del_p.AAAAGGR10fs|KIF2A_ENST00000509663.2_Intron	NM_014473.2	NP_055288.1	Q9UNQ2	DIM1_HUMAN	DIM1 dimethyladenosine transferase 1 homolog (S. cerevisiae)	10						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	18S rRNA (adenine(1779)-N(6)/adenine(1780)-N(6))-dimethyltransferase activity (GO:0052909)|poly(A) RNA binding (GO:0044822)|rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)										GGCGCTGCTCCTGCCGCCCGCGGCGGCGGCCGATGGCCCC	0.705																																																0																																										SO:0001589	frameshift_variant	27292			AF102147	CCDS3981.1	5q12.1	2011-08-11	2011-08-11	2011-08-11	ENSG00000086189	ENSG00000086189			30217	protein-coding gene	gene with protein product		612499	"DIM1 dimethyladenosine transferase 1-like (S. cerevisiae)"	DIMT1L		11124703	Standard	NM_014473		Approved	HSA9761	uc003jta.3	Q9UNQ2	OTTHUMG00000131223	ENST00000199320.4:c.29_48delCCGCCGCCGCGGGCGGCAGG	5.37:g.61699552_61699571delCCTGCCGCCCGCGGCGGCGG	ENSP00000199320:p.Ala10fs		O76025|Q9BU77|Q9UES1	Frame_Shift_Del	DEL	ENST00000199320.4	37	CCDS3981.1																																																																																				0.705	DIMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253967.1	NM_014473		-	61699571	CCTGCCGCCCGCGGCGGCGG	-	61699552	7	5	704	1	0	1	0	1	0	0	0	0	4525	680	24	0	941	0	DIMT1L	5	61699552	Frame_Shift_Del	DEL	CCTGCCGCCCGCGGCGGCGG	TCGA-KL-8335-01A-11D-2310-10	1	61699552	119215708	30	39182	320	2									
RBM27	54439	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	5	145598649	145598649	+	Missense_Mutation	SNP	A	A	T			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr5:145598649A>T	ENST00000265271.5	+	2	327	c.161A>T	c.(160-162)gAt>gTt	p.D54V	RBM27_ENST00000506502.1_Missense_Mutation_p.D54V	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	54					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)			GATCAACTTGATGTCTTTTTA	0.353																																																0													151	141	144					5																	145598649		1568	3582	5150	SO:0001583	missense	54439			AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"Zinc fingers, CCCH-type domain containing", "RNA binding motif (RRM) containing"	29243	protein-coding gene	gene with protein product	"acidic rich RS domain containing 1"					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.161A>T	5.37:g.145598649A>T	ENSP00000265271:p.Asp54Val		Q8IYW9	Missense_Mutation	SNP	ENST00000265271.5	37	CCDS43378.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.534735	0.85812	.	.	ENSG00000091009	ENST00000265271	T	0.41758	0.99	5.69	5.69	0.88448	Splicing factor PWI (2);	0.000000	0.85682	D	0.000000	T	0.62974	0.2472	M	0.65975	2.015	0.80722	D	1	D;P	0.89917	1.0;0.484	D;P	0.75484	0.986;0.72	T	0.63143	-0.6703	10	0.45353	T	0.12	-18.5905	15.956	0.79889	1.0:0.0:0.0:0.0	.	54;54	Q9P2N5;B3KY61	RBM27_HUMAN;.	V	54	ENSP00000265271:D54V	ENSP00000265271:D54V	D	+	2	0	RBM27	145578842	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.292000	0.96076	2.167000	0.68274	0.533000	0.62120	GAT		0.353	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373420.1	XM_291128		T	145598649	A	T	145598649	3	4	704	1	0	0	0	0	1	0	0	0	13133	333	12	5	167	5	RBM27	5	145598649	Missense_Mutation	SNP	A	TCGA-KL-8335-01A-11D-2310-10	83899097	145598649	35316611	31	39183											
C6orf201	404220	bcgsc.ca	37	6	4087901	4087901	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr6:4087901T>C	ENST00000380175.4	+	2	791	c.26T>C	c.(25-27)cTt>cCt	p.L9P	C6orf201_ENST00000430835.2_Missense_Mutation_p.L9P|C6orf201_ENST00000360378.6_3'UTR|C6orf201_ENST00000333388.5_Intron|FAM217A_ENST00000380188.2_5'Flank	NM_001085401.2	NP_001078870.1	Q7Z4U5	CF201_HUMAN	chromosome 6 open reading frame 201	9										central_nervous_system(1)|endometrium(3)|lung(2)	6	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				CACGAGCTGCTTCCGAATCAC	0.488																																																0													212	224	221					6																	4087901		1920	4148	6068	SO:0001583	missense	404220			BC047663	CCDS43419.1	6p25.2	2012-02-21			ENSG00000185689	ENSG00000185689			21620	protein-coding gene	gene with protein product							Standard	NM_001085401		Approved	dJ1013A10.5	uc003mwa.4	Q7Z4U5	OTTHUMG00000014160	ENST00000380175.4:c.26T>C	6.37:g.4087901T>C	ENSP00000420610:p.Leu9Pro		A6NLI6|Q6NXN5	Missense_Mutation	SNP	ENST00000380175.4	37	CCDS43419.1	.	.	.	.	.	.	.	.	.	.	T	13.95	2.391047	0.42410	.	.	ENSG00000185689	ENST00000541127;ENST00000380175;ENST00000451679;ENST00000436110;ENST00000430835	T;T;T;T	0.36340	1.26;1.26;1.26;1.26	4.28	4.28	0.50868	.	0.203527	0.24737	N	0.036011	T	0.34658	0.0905	L	0.29908	0.895	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.28396	-1.0045	10	0.87932	D	0	.	9.9695	0.41745	0.0:0.0:0.0:1.0	.	9;9	B4DXB2;Q7Z4U5	.;CF201_HUMAN	P	9	ENSP00000420610:L9P;ENSP00000420763:L9P;ENSP00000417981:L9P;ENSP00000396912:L9P	ENSP00000420610:L9P	L	+	2	0	C6orf201	4032900	0.994000	0.37717	0.993000	0.49108	0.189000	0.23516	3.100000	0.50275	1.927000	0.55829	0.460000	0.39030	CTT		0.488	C6orf201-001	KNOWN	NMD_exception|basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000314019.2	NM_001085401		C	4087901	T	C	4087901	3	2	704	1	0	0	0	0	1	0	0	0	2353	1609	56	3	28	3	C6orf201	6	4087901	Missense_Mutation	SNP	T	TCGA-KL-8335-01A-11D-2310-10		4087901	167027166	32	39184											
NOTCH4	4855	hgsc.bcm.edu	37	6	32168996	32168996	+	Missense_Mutation	SNP	C	C	T	rs8192573	byFrequency	TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr6:32168996C>T	ENST00000375023.3	-	22	4175	c.4037G>A	c.(4036-4038)cGg>cAg	p.R1346Q		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1346			R -> P (in dbSNP:rs8192573).		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						TTCTTCAGCCCGGGCCCCAGG	0.617																																																0													58	67	64					6																	32168996		1508	2707	4215	SO:0001583	missense	4855				CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"Ankyrin repeat domain containing"	7884	protein-coding gene	gene with protein product		164951	"Notch (Drosophila) homolog 4", "Notch homolog 4 (Drosophila)"	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.4037G>A	6.37:g.32168996C>T	ENSP00000364163:p.Arg1346Gln		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	C	10.61	1.397977	0.25205	.	.	ENSG00000204301	ENST00000375023	T	0.80824	-1.42	4.37	1.09	0.20402	.	0.581966	0.13081	N	0.415340	T	0.35098	0.0920	N	0.03608	-0.345	0.80722	D	1	B;B	0.18741	0.03;0.001	B;B	0.17979	0.02;0.0	T	0.08534	-1.0717	10	0.25106	T	0.35	.	5.443	0.16519	0.0:0.4431:0.0:0.5569	.	1346;1345	Q99466;B0S882	NOTC4_HUMAN;.	Q	1346	ENSP00000364163:R1346Q	ENSP00000364163:R1346Q	R	-	2	0	NOTCH4	32276974	0.999000	0.42202	0.990000	0.47175	0.931000	0.56810	1.224000	0.32539	0.052000	0.16007	0.456000	0.33151	CGG		0.617	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			T	32168996	C	T	32168996	3	4	704	1	0	0	0	0	1	0	0	0	10553	652	23	1	2010	1	NOTCH4	6	32168996	Missense_Mutation	SNP	C	TCGA-KL-8335-01A-11D-2310-10	28081095	32168996	138946071	33	39185											
TDRD6	221400	broad.mit.edu	37	6	46661608	46661608	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr6:46661608C>T	ENST00000316081.6	+	1	5743	c.5743C>T	c.(5743-5745)Cct>Tct	p.P1915S	TDRD6_ENST00000544460.1_Missense_Mutation_p.P1915S	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1915					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)			AGCCCAGCTGCCTTTAGATGA	0.458																																																0													103	100	101					6																	46661608		2203	4300	6503	SO:0001583	missense	221400			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"Tudor domain containing"	21339	protein-coding gene	gene with protein product	"cancer/testis antigen 41.2", "spermatogenesis associated 36"	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.5743C>T	6.37:g.46661608C>T	ENSP00000346065:p.Pro1915Ser		B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	C	0.052	-1.246071	0.01481	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.11169	2.8;2.8	5.57	3.23	0.37069	.	0.486738	0.19330	N	0.116913	T	0.01189	0.0039	N	0.11560	0.145	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.06405	0.002;0.001	T	0.47649	-0.9101	10	0.07325	T	0.83	-16.1441	7.0121	0.24867	0.0:0.1857:0.0:0.8143	.	1915;1915	F5H5M3;O60522	.;TDRD6_HUMAN	S	1915	ENSP00000443299:P1915S;ENSP00000346065:P1915S	ENSP00000346065:P1915S	P	+	1	0	TDRD6	46769567	0.000000	0.05858	0.028000	0.17463	0.007000	0.05969	0.378000	0.20569	0.947000	0.37659	-0.471000	0.05019	CCT		0.458	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		T	46661608	C	T	46661608	3	4	704	1	0	0	0	0	1	0	0	0	15739	739	26	2	5745	2	TDRD6	6	46661608	Missense_Mutation	SNP	C	TCGA-KL-8335-01A-11D-2310-10	14492612	46661608	124453459	34	39186											
AMD1	262	hgsc.bcm.edu	37	6	111214753	111214753	+	Silent	SNP	T	T	C			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr6:111214753T>C	ENST00000368885.3	+	9	1275	c.939T>C	c.(937-939)gcT>gcC	p.A313A	AMD1_ENST00000368882.3_Silent_p.A165A|AMD1_ENST00000368876.1_Silent_p.A244A|AMD1_ENST00000451850.2_Silent_p.A193A|AMD1_ENST00000368877.5_Silent_p.A284A	NM_001634.4	NP_001625.2	P17707	DCAM_HUMAN	adenosylmethionine decarboxylase 1	313					cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|S-adenosylmethioninamine biosynthetic process (GO:0006557)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)|spermine biosynthetic process (GO:0006597)	cytosol (GO:0005829)	adenosylmethionine decarboxylase activity (GO:0004014)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	S-Adenosylmethionine(DB00118)	GCCAGAGTGCTATGTTCAATG	0.368																																																0													98	89	92					6																	111214753		2203	4298	6501	SO:0001819	synonymous_variant	262			M88006	CCDS5086.1, CCDS75504.1, CCDS75505.1	6q21	2014-05-13			ENSG00000123505	ENSG00000123505	4.1.1.50		457	protein-coding gene	gene with protein product		180980	"S-adenosylmethionine decarboxylase 1"				Standard	NM_001634		Approved	SAMDC	uc003puk.1	P17707	OTTHUMG00000015369	ENST00000368885.3:c.939T>C	6.37:g.111214753T>C			E1P5F7|Q5VXN4|Q5VXN6|Q9BWK4	Silent	SNP	ENST00000368885.3	37	CCDS5086.1																																																																																				0.368	AMD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041816.1			C	111214753	T	C	111214753	2	2	704	1	0	0	0	0	0	0	0	1	566	1509	53	3		3	AMD1	6	111214753	Silent	SNP	T	TCGA-KL-8335-01A-11D-2310-10	64553145	111214753	59900314	35	39187											
FAM184A	79632	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	6	119345242	119345242	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr6:119345242C>T	ENST00000338891.7	-	2	1339	c.896G>A	c.(895-897)cGa>cAa	p.R299Q	FAM184A_ENST00000352896.5_Missense_Mutation_p.R179Q|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000522284.1_Missense_Mutation_p.R179Q|FAM184A_ENST00000368475.4_Missense_Mutation_p.R179Q|FAM184A_ENST00000521531.1_Missense_Mutation_p.R299Q	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	299						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TATAGTTTTTCGTAAAATTGC	0.393																																																0													113	108	109					6																	119345242		1819	4076	5895	SO:0001583	missense	79632			BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 60"	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.896G>A	6.37:g.119345242C>T	ENSP00000342604:p.Arg299Gln		B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	ENST00000338891.7	37	CCDS43499.1	.	.	.	.	.	.	.	.	.	.	C	0.155	-1.087649	0.01873	.	.	ENSG00000111879	ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531;ENST00000522284	T;T;T;T;T	0.00309	8.16;8.16;8.16;8.16;8.16	5.04	5.04	0.67666	.	0.153338	0.46145	D	0.000307	T	0.00039	0.0001	N	0.05574	-0.02	0.44595	D	0.997567	B;B;B	0.33120	0.341;0.196;0.398	B;B;B	0.25140	0.043;0.031;0.058	T	0.05451	-1.0884	10	0.02654	T	1	-4.3682	12.1631	0.54115	0.0:0.9206:0.0:0.0794	.	299;179;299	Q8NB25-2;F8W8D6;Q8NB25	.;.;F184A_HUMAN	Q	299;179;179;299;179	ENSP00000342604:R299Q;ENSP00000326608:R179Q;ENSP00000357460:R179Q;ENSP00000430442:R299Q;ENSP00000429826:R179Q	ENSP00000342604:R299Q	R	-	2	0	FAM184A	119386941	1.000000	0.71417	1.000000	0.80357	0.053000	0.15095	5.303000	0.65738	2.506000	0.84524	0.460000	0.39030	CGA		0.393	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581		T	119345242	C	T	119345242	3	4	704	1	0	0	0	0	1	0	0	0	5513	884	31	1	2594	1	FAM184A	6	119345242	Missense_Mutation	SNP	C	TCGA-KL-8335-01A-11D-2310-10	8130489	119345242	51769825	36	39188											
ABCB5	340273	broad.mit.edu;bcgsc.ca	37	7	20698214	20698214	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr7:20698214G>A	ENST00000404938.2	+	14	2274	c.1622G>A	c.(1621-1623)cGa>cAa	p.R541Q	ABCB5_ENST00000406935.1_Missense_Mutation_p.R96Q|ABCB5_ENST00000258738.6_Missense_Mutation_p.R96Q|ABCB5_ENST00000443026.2_Missense_Mutation_p.R96Q	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	541	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						GCCTTAGTTCGAAACCCCAAG	0.438																																																0													129	112	118					7																	20698214		2203	4300	6503	SO:0001583	missense	340273			U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"ATP binding cassette transporters / subfamily B"	46	protein-coding gene	gene with protein product	"P-glycoprotein ABCB5", "ATP-binding cassette protein"	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.1622G>A	7.37:g.20698214G>A	ENSP00000384881:p.Arg541Gln		A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.774322	0.90108	.	.	ENSG00000004846	ENST00000404938;ENST00000443026;ENST00000406935;ENST00000258738	D;D;D;D	0.93763	-1.87;-3.28;-3.28;-1.87	5.77	4.67	0.58626	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.142496	0.30510	N	0.009471	D	0.95655	0.8587	M	0.68728	2.09	0.37951	D	0.932664	D;D;D;D	0.89917	0.996;1.0;0.998;1.0	P;D;D;D	0.91635	0.784;0.999;0.991;0.977	D	0.96024	0.9011	10	0.87932	D	0	.	12.5046	0.55973	0.1116:0.0:0.8884:0.0	.	96;541;96;96	B5MD19;A7BKA4;Q2M3G0;Q2M3G0-2	.;.;ABCB5_HUMAN;.	Q	541;96;96;96	ENSP00000384881:R541Q;ENSP00000406730:R96Q;ENSP00000383899:R96Q;ENSP00000258738:R96Q	ENSP00000258738:R96Q	R	+	2	0	ABCB5	20664739	0.995000	0.38212	1.000000	0.80357	0.975000	0.68041	3.264000	0.51553	2.890000	0.99128	0.650000	0.86243	CGA		0.438	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		A	20698214	G	A	20698214	3	1	704	1	0	0	0	0	1	0	0	0	44	1058	37	1	1672	1	ABCB5	7	20698214	Missense_Mutation	SNP	G	TCGA-KL-8335-01A-11D-2310-10		20698214	138440449	37	39189											
DPY19L1	23333	mdanderson.org	37	7	34987258	34987258	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr7:34987258A>G	ENST00000310974.4	-	15	1403	c.1259T>C	c.(1258-1260)gTt>gCt	p.V420A		NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	420						integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring glycosyl groups (GO:0016757)			endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						AACAATAGCAACAAACACTAC	0.318																																																0													69	73	72					7																	34987258		2164	4285	6449	SO:0001583	missense	23333			AB020684	CCDS43567.1	7p14.3-p14.2	2006-04-26			ENSG00000173852	ENSG00000173852			22205	protein-coding gene	gene with protein product		613892					Standard	NM_015283		Approved	KIAA0877	uc003tem.4	Q2PZI1	OTTHUMG00000154888	ENST00000310974.4:c.1259T>C	7.37:g.34987258A>G	ENSP00000308695:p.Val420Ala		O94954|Q4G151	Missense_Mutation	SNP	ENST00000310974.4	37	CCDS43567.1	.	.	.	.	.	.	.	.	.	.	A	7.168	0.587071	0.13812	.	.	ENSG00000173852	ENST00000310974;ENST00000446375	T;T	0.57107	0.42;0.42	5.28	1.1	0.20463	.	0.811526	0.11732	N	0.534848	T	0.18215	0.0437	N	0.01352	-0.895	0.21861	N	0.9995	B	0.02656	0.0	B	0.01281	0.0	T	0.27905	-1.0060	10	0.09843	T	0.71	-2.32	5.0712	0.14608	0.4821:0.1582:0.3597:0.0	.	420	Q2PZI1	D19L1_HUMAN	A	420;190	ENSP00000308695:V420A;ENSP00000400510:V190A	ENSP00000308695:V420A	V	-	2	0	DPY19L1	34953783	0.008000	0.16893	0.534000	0.28014	0.963000	0.63663	1.067000	0.30616	0.376000	0.24707	0.383000	0.25322	GTT		0.318	DPY19L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337506.1			G	34987258	A	G	34987258	3	3	704	1	0	0	0	0	1	0	0	0	4742	43	2	3	800	3	DPY19L1	7	34987258	Missense_Mutation	SNP	A	TCGA-KL-8335-01A-11D-2310-10	14289044	34987258	124151405	38	39190											
CALD1	800	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	7	134617794	134617794	+	Missense_Mutation	SNP	G	G	T	rs542527726		TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr7:134617794G>T	ENST00000361675.2	+	5	503	c.274G>T	c.(274-276)Gat>Tat	p.D92Y	CALD1_ENST00000417172.1_Missense_Mutation_p.D92Y|CALD1_ENST00000422748.1_Missense_Mutation_p.D92Y|CALD1_ENST00000543443.1_Missense_Mutation_p.D97Y|CALD1_ENST00000424922.1_Missense_Mutation_p.D86Y|CALD1_ENST00000393118.2_Missense_Mutation_p.D86Y|CALD1_ENST00000361901.2_Missense_Mutation_p.D92Y|CALD1_ENST00000361388.2_Missense_Mutation_p.D92Y|CALD1_ENST00000495522.1_Missense_Mutation_p.D86Y			Q05682	CALD1_HUMAN	caldesmon 1	92	Myosin and calmodulin-binding. {ECO:0000250}.				cellular component movement (GO:0006928)|muscle contraction (GO:0006936)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|calmodulin binding (GO:0005516)|tropomyosin binding (GO:0005523)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						GGAAGGGGATGATGAGGCCGC	0.542																																																0													60	51	54					7																	134617794		2203	4300	6503	SO:0001583	missense	800			M64110	CCDS5834.1, CCDS5835.1, CCDS5836.1, CCDS47716.1, CCDS47717.1, CCDS5836.2	7q33	2007-04-23			ENSG00000122786	ENSG00000122786			1441	protein-coding gene	gene with protein product		114213				1885618	Standard	NM_004342		Approved	CDM, H-CAD, L-CAD	uc003vrz.3	Q05682	OTTHUMG00000155407	ENST00000361675.2:c.274G>T	7.37:g.134617794G>T	ENSP00000354826:p.Asp92Tyr		A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	Missense_Mutation	SNP	ENST00000361675.2	37	CCDS5835.1	.	.	.	.	.	.	.	.	.	.	G	18.66	3.671451	0.67814	.	.	ENSG00000122786	ENST00000417172;ENST00000436461;ENST00000361388;ENST00000422748;ENST00000361675;ENST00000361901;ENST00000445569;ENST00000393118;ENST00000424922;ENST00000495522;ENST00000543443	T;T;T;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;0.43;0.43;0.43	5.38	5.38	0.77491	.	0.275906	0.26237	N	0.025538	T	0.71484	0.3345	M	0.73962	2.25	0.34097	D	0.661391	D;D;D;D;D;D;D;D	0.64830	0.992;0.983;0.979;0.992;0.979;0.979;0.993;0.994	P;P;P;P;P;P;D;D	0.64321	0.873;0.88;0.81;0.873;0.717;0.81;0.924;0.922	T	0.80944	-0.1156	10	0.72032	D	0.01	-14.924	17.3065	0.87196	0.0:0.0:1.0:0.0	.	97;92;86;86;92;92;92;92	F5H1Z9;A8K0X1;Q05682-5;Q05682-3;Q05682-4;Q05682-2;Q05682;Q9NYG1	.;.;.;.;.;.;CALD1_HUMAN;.	Y	92;92;92;92;92;92;106;86;86;86;97	ENSP00000398826:D92Y;ENSP00000411476:D92Y;ENSP00000355000:D92Y;ENSP00000395710:D92Y;ENSP00000354826:D92Y;ENSP00000354513:D92Y;ENSP00000390926:D106Y;ENSP00000376826:D86Y;ENSP00000393621:D86Y;ENSP00000419673:D86Y;ENSP00000445641:D97Y	ENSP00000355000:D92Y	D	+	1	0	CALD1	134268334	1.000000	0.71417	0.589000	0.28718	0.891000	0.51852	8.514000	0.90545	2.497000	0.84241	0.557000	0.71058	GAT		0.542	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339939.1	NM_033138		T	134617794	G	T	134617794	3	4	704	1	0	0	0	0	1	0	0	0	2583	1290	45	4	341	4	CALD1	7	134617794	Missense_Mutation	SNP	G	TCGA-KL-8335-01A-11D-2310-10	99630536	134617794	24520869	39	39191											
EPHA1	2041	broad.mit.edu;hgsc.bcm.edu	37	7	143095693	143095693	+	Splice_Site	DEL	C	C	-			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr7:143095693delC	ENST00000275815.3	-	6	1423		c.e6+1			NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1						activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|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 cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				CAGCCTCTCACCTGCATGCCC	0.547																																																0													45	43	44					7																	143095693		2203	4300	6503	SO:0001630	splice_region_variant	2041			M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3385	protein-coding gene	gene with protein product		179610	"EphA1"	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.1336+1G>-	7.37:g.143095693delC			A1L3V3|B5A966|B5A967|Q15405	Splice_Site	DEL	ENST00000275815.3	37	CCDS5884.1																																																																																				0.547	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1		Intron	-	143095693	C	-	143095693	8	5	704	1	0	1	0	1	0	0	1	0	5167	521	18	0	1645	0	EPHA1	7	143095693	Splice_Site	DEL	C	TCGA-KL-8335-01A-11D-2310-10	8477899	143095693	16042970	40	39192	321	2									
EPHA1	2041	bcgsc.ca	37	7	143095694	143095694	+	Splice_Site	DEL	C	C	-			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr7:143095694delC	ENST00000275815.3	-	6	1422	c.1336delG	c.(1336-1338)gag>ag	p.E446fs		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	446					activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|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 cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				AGCCTCTCACCTGCATGCCCC	0.547																																																0													46	44	44					7																	143095694		2203	4300	6503	SO:0001630	splice_region_variant	2041			M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3385	protein-coding gene	gene with protein product		179610	"EphA1"	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.1336+1G>-	7.37:g.143095694delC			A1L3V3|B5A966|B5A967|Q15405	Frame_Shift_Del	DEL	ENST00000275815.3	37	CCDS5884.1																																																																																				0.547	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1		Frame_Shift_Del	-	143095694	C	-	143095694	8	5	704	1	0	1	0	1	0	0	1	0	5167	695	24	0	1646	0	EPHA1	7	143095694	Splice_Site	DEL	C	TCGA-KL-8335-01A-11D-2310-10	1	143095694	16042969	41	39193	321	2									
CLDN23	137075	broad.mit.edu	37	8	8560233	8560234	+	Frame_Shift_Ins	INS	-	-	T			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr8:8560233_8560234insT	ENST00000519106.1	+	1	786_787	c.325_326insT	c.(325-327)cccfs	p.P109fs		NM_194284.2	NP_919260.2	Q96B33	CLD23_HUMAN	claudin 23	109					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(2)	2		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.071)|READ - Rectum adenocarcinoma(644;0.238)		GCAGGACGAGCCCAACTTCGTG	0.703																																																0																																										SO:0001589	frameshift_variant	137075			AK123547	CCDS55195.1	8p23.1	2006-04-12				ENSG00000253958		"Claudins"	17591	protein-coding gene	gene with protein product		609203				12736707	Standard	NM_194284		Approved	CLDNL	uc003wsi.3	Q96B33		Exception_encountered	8.37:g.8560233_8560234insT	ENSP00000428780:p.Pro109fs		Q08AJ3	Frame_Shift_Ins	INS	ENST00000519106.1	37	CCDS55195.1																																																																																				0.703	CLDN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374721.1	NM_194284		T	8560234	-	T	8560233	7	5	704	1	0	1	1	0	0	0	0	0	3486	739	26	0	327	0	CLDN23	8	8560233	Frame_Shift_Ins	INS	-	TCGA-KL-8335-01A-11D-2310-10		8560233	137803789	42	39194											
PSD3	23362	broad.mit.edu	37	8	18725567	18725567	+	Silent	SNP	T	T	C			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr8:18725567T>C	ENST00000327040.8	-	4	1353	c.1251A>G	c.(1249-1251)caA>caG	p.Q417Q	PSD3_ENST00000523619.1_Silent_p.Q352Q|PSD3_ENST00000440756.2_Silent_p.Q417Q	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	417					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)		CGTGCTCCTCTTGTTCGCTGA	0.423																																																0													96	97	97					8																	18725567		1983	4154	6137	SO:0001819	synonymous_variant	23362			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.1251A>G	8.37:g.18725567T>C			A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Silent	SNP	ENST00000327040.8	37	CCDS43720.1																																																																																				0.423	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310		C	18725567	T	C	18725567	2	2	704	1	0	0	0	0	0	0	0	1	12653	1606	56	3		3	PSD3	8	18725567	Silent	SNP	T	TCGA-KL-8335-01A-11D-2310-10	10165334	18725567	127638455	43	39195											
FBXO16	157574	broad.mit.edu	37	8	28309794	28309794	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr8:28309794T>C	ENST00000380254.2	-	6	855	c.707A>G	c.(706-708)gAc>gGc	p.D236G	FBXO16_ENST00000518734.1_Missense_Mutation_p.D224G|FBXO16_ENST00000346498.2_Missense_Mutation_p.D224G|RP11-181B11.2_ENST00000518819.1_RNA|FBXO16_ENST00000517436.1_5'UTR|RP11-181B11.2_ENST00000523935.1_RNA	NM_001258211.1|NM_172366.3	NP_001245140.1|NP_758954.1	Q8IX29	FBX16_HUMAN	F-box protein 16	236										large_intestine(2)|ovary(1)	3		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)		GTCACGGTTGTCTAGGTAATT	0.413																																																0													92	91	91					8																	28309794		2203	4300	6503	SO:0001583	missense	157574			AF453435	CCDS6068.1, CCDS59099.1	8p21.1	2008-02-05	2004-06-15		ENSG00000214050	ENSG00000214050		"F-boxes /  "other""	13618	protein-coding gene	gene with protein product		608519	"F-box only protein 16"			12243353	Standard	NM_172366		Approved	FBX16	uc003xgu.4	Q8IX29	OTTHUMG00000102147	ENST00000380254.2:c.707A>G	8.37:g.28309794T>C	ENSP00000369604:p.Asp236Gly		Q3T1B2|Q3T1B3|Q3T1B4	Missense_Mutation	SNP	ENST00000380254.2	37	CCDS6068.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.2|24.2	4.510595|4.510595	0.85389|0.85389	.|.	.|.	ENSG00000214050|ENSG00000214050	ENST00000380254;ENST00000346498;ENST00000518734;ENST00000517673|ENST00000518248	T;T;T;T|.	0.59502|.	1.75;1.64;1.72;0.26|.	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	0.336197|.	0.25478|.	U|.	0.030394|.	T|T	0.72985|0.72985	0.3529|0.3529	M|M	0.70275|0.70275	2.135|2.135	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.995;0.999;0.998|.	P;P;P|.	0.57468|.	0.728;0.821;0.821|.	T|T	0.73313|0.73313	-0.4022|-0.4022	10|5	0.72032|.	D|.	0.01|.	-32.5255|-32.5255	14.4817|14.4817	0.67587|0.67587	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	224;224;236|.	Q3T1B3;Q3T1B2;Q8IX29|.	.;.;FBX16_HUMAN|.	G|A	236;224;224;181|81	ENSP00000369604:D236G;ENSP00000341416:D224G;ENSP00000429687:D224G;ENSP00000429390:D181G|.	ENSP00000341416:D224G|.	D|T	-|-	2|1	0|0	FBXO16|FBXO16	28365713|28365713	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.801000|0.801000	0.45260|0.45260	6.794000|6.794000	0.75135|0.75135	2.098000|2.098000	0.63641|0.63641	0.443000|0.443000	0.29094|0.29094	GAC|ACA		0.413	FBXO16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219988.2	NM_172366		C	28309794	T	C	28309794	3	2	704	1	0	0	0	0	1	0	0	0	5731	1667	58	3	187	3	FBXO16	8	28309794	Missense_Mutation	SNP	T	TCGA-KL-8335-01A-11D-2310-10	9584227	28309794	118054228	44	39196											
OPRK1	4986	mdanderson.org;bcgsc.ca	37	8	54141872	54141872	+	Missense_Mutation	SNP	C	C	A			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr8:54141872C>A	ENST00000265572.3	-	4	1425	c.1128G>T	c.(1126-1128)atG>atT	p.M376I	OPRK1_ENST00000520287.1_Missense_Mutation_p.M376I|OPRK1_ENST00000524278.1_Missense_Mutation_p.M287I|RP11-162D9.3_ENST00000524425.1_RNA	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	376					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)	CTGGTTTATTCATCCCATCGA	0.468																																																0													120	104	110					8																	54141872		2203	4300	6503	SO:0001583	missense	4986				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.1128G>T	8.37:g.54141872C>A	ENSP00000265572:p.Met376Ile		E5RHC9|Q499G4	Missense_Mutation	SNP	ENST00000265572.3	37	CCDS6152.1	.	.	.	.	.	.	.	.	.	.	C	2.914	-0.224603	0.06061	.	.	ENSG00000082556	ENST00000265572;ENST00000524278;ENST00000520287;ENST00000396798	T;T;T	0.70631	-0.1;-0.5;-0.1	5.8	-1.93	0.07594	.	1.289330	0.04551	N	0.389855	T	0.47948	0.1473	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27773	-1.0064	10	0.32370	T	0.25	.	6.3688	0.21469	0.0:0.3619:0.3871:0.2511	.	376	P41145	OPRK_HUMAN	I	376;287;376;362	ENSP00000265572:M376I;ENSP00000430923:M287I;ENSP00000429706:M376I	ENSP00000265572:M376I	M	-	3	0	OPRK1	54304425	0.019000	0.18553	0.063000	0.19743	0.003000	0.03518	-0.126000	0.10563	-0.320000	0.08640	-0.810000	0.03169	ATG		0.468	OPRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378048.1			A	54141872	C	A	54141872	3	1	704	1	0	0	0	0	1	0	0	0	10887	826	29	4	18	4	OPRK1	8	54141872	Missense_Mutation	SNP	C	TCGA-KL-8335-01A-11D-2310-10	25832078	54141872	92222150	45	39197											
EPPK1	83481	ucsc.edu;bcgsc.ca	37	8	144944498	144944498	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr8:144944498T>C	ENST00000525985.1	-	2	2995	c.2924A>G	c.(2923-2925)gAc>gGc	p.D975G				P58107	EPIPL_HUMAN	epiplakin 1	975						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)			GCTGTGAGGGTCCATGATGGT	0.692																																																0													7	9	8					8																	144944498		1939	4118	6057	SO:0001583	missense	83481			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.2924A>G	8.37:g.144944498T>C	ENSP00000436337:p.Asp975Gly		Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37		.	.	.	.	.	.	.	.	.	.	T	15.97	2.989058	0.53934	.	.	ENSG00000227184	ENST00000525985	D	0.83837	-1.77	4.7	3.55	0.40652	.	.	.	.	.	D	0.85128	0.5626	M	0.88979	2.995	0.34717	D	0.728397	P	0.34757	0.467	B	0.39119	0.291	D	0.87037	0.2138	9	0.52906	T	0.07	.	8.3523	0.32310	0.0:0.0944:0.0:0.9056	.	975	E9PPU0	.	G	975	ENSP00000436337:D975G	ENSP00000436337:D975G	D	-	2	0	EPPK1	145016486	1.000000	0.71417	0.776000	0.31678	0.097000	0.18754	7.725000	0.84808	0.830000	0.34757	0.533000	0.62120	GAC		0.692	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		C	144944498	T	C	144944498	3	2	704	1	0	0	0	0	1	0	0	0	5192	1667	58	3	4342	3	EPPK1	8	144944498	Missense_Mutation	SNP	T	TCGA-KL-8335-01A-11D-2310-10	90802626	144944498	1419524	46	39198											
UHRF2	115426	broad.mit.edu	37	9	6460652	6460652	+	Silent	SNP	C	C	T			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr9:6460652C>T	ENST00000276893.5	+	4	892	c.724C>T	c.(724-726)Cta>Tta	p.L242L		NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase	242	Interaction with PCNP.|Required for interaction with histone H3. {ECO:0000250}.				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)		ATGGAATGAACTAAATGTTGG	0.378																																																0													117	118	118					9																	6460652		2203	4300	6503	SO:0001819	synonymous_variant	115426			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.724C>T	9.37:g.6460652C>T			Q5VYR1|Q5VYR3|Q659C8|Q8TAG7	Silent	SNP	ENST00000276893.5	37	CCDS6469.1																																																																																				0.378	UHRF2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051665.3	NM_152306		T	6460652	C	T	6460652	2	4	704	1	0	0	0	0	0	0	0	1	16975	564	20	2		2	UHRF2	9	6460652	Silent	SNP	C	TCGA-KL-8335-01A-11D-2310-10		6460652	134752779	47	39199											
PRSS3	5646	mdanderson.org	37	9	33796801	33796801	+	Splice_Site	SNP	G	G	A	rs143707562		TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr9:33796801G>A	ENST00000361005.5	+	2	371		c.e2+1		PRSS3_ENST00000342836.4_Splice_Site|PRSS3_ENST00000379405.3_Splice_Site|PRSS3_ENST00000429677.3_Splice_Site|RP11-133O22.6_ENST00000454429.2_RNA	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3						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)			GCTACAAGACGTAAGTGTGGG	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		18879	0.001		0.0	False		,,,				2504	0.0															0													70	70	70					9																	33796801		2203	4300	6503	SO:0001630	splice_region_variant	5646				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.371+1G>A	9.37:g.33796801G>A			A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	Splice_Site	SNP	ENST00000361005.5	37	CCDS47958.1	.	.	.	.	.	.	.	.	.	.	G	7.509	0.654290	0.14580	.	.	ENSG00000010438	ENST00000361005;ENST00000457896;ENST00000342836;ENST00000429677;ENST00000379405	.	.	.	3.21	2.29	0.28610	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.1922	0.31374	0.1286:0.0:0.8714:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PRSS3	33786801	1.000000	0.71417	0.775000	0.31657	0.032000	0.12392	8.277000	0.89896	0.482000	0.27582	0.306000	0.20318	.		0.597	PRSS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052121.1	NM_002771	Intron	A	33796801	G	A	33796801	5	1	704	1	0	0	0	0	0	0	1	0	12627	1159	40	1	422	1	PRSS3	9	33796801	Splice_Site	SNP	G	TCGA-KL-8335-01A-11D-2310-10	27336149	33796801	107416630	48	39200											
ANXA1	301	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	9	75783993	75783993	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr9:75783993C>T	ENST00000376911.1	+	11	1789	c.907C>T	c.(907-909)Cgt>Tgt	p.R303C	ANXA1_ENST00000257497.6_Missense_Mutation_p.R303C|ANXA1_ENST00000491192.1_3'UTR			P04083	ANXA1_HUMAN	annexin A1	303					alpha-beta T cell differentiation (GO:0046632)|arachidonic acid secretion (GO:0050482)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to hydrogen peroxide (GO:0070301)|endocrine pancreas development (GO:0031018)|estrous cycle phase (GO:0060206)|gliogenesis (GO:0042063)|hepatocyte differentiation (GO:0070365)|inflammatory response (GO:0006954)|insulin secretion (GO:0030073)|keratinocyte differentiation (GO:0030216)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of interleukin-8 secretion (GO:2000483)|neutrophil clearance (GO:0097350)|neutrophil homeostasis (GO:0001780)|peptide cross-linking (GO:0018149)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of neutrophil apoptotic process (GO:0033031)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of vesicle fusion (GO:0031340)|regulation of cell proliferation (GO:0042127)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to interleukin-1 (GO:0070555)|response to peptide hormone (GO:0043434)|response to X-ray (GO:0010165)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cilium (GO:0005929)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phospholipase A2 inhibitor activity (GO:0019834)|phospholipid binding (GO:0005543)|protein binding, bridging (GO:0030674)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)	p.R303S(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8		all_epithelial(88;2.54e-11)		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	Amcinonide(DB00288)|Dexamethasone(DB01234)|Hydrocortisone(DB00741)	TATGGTTTCCCGTTCTGAAAT	0.388																																																1	Substitution - Missense(1)	lung(1)											230	210	217					9																	75783993		2203	4300	6503	SO:0001583	missense	301			X05908	CCDS6645.1	9q21.13	2013-02-25			ENSG00000135046	ENSG00000135046		"Annexins", "Endogenous ligands"	533	protein-coding gene	gene with protein product		151690		ANX1, LPC1		2936963	Standard	NM_000700		Approved		uc004ajf.1	P04083	OTTHUMG00000020016	ENST00000376911.1:c.907C>T	9.37:g.75783993C>T	ENSP00000366109:p.Arg303Cys			Missense_Mutation	SNP	ENST00000376911.1	37	CCDS6645.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.744472	0.89663	.	.	ENSG00000135046	ENST00000257497;ENST00000376911	T;T	0.12879	2.64;2.64	5.97	5.08	0.68730	Annexin repeat, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.47581	0.1453	M	0.92317	3.295	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.61657	-0.7018	10	0.87932	D	0	.	14.9487	0.71054	0.0:0.9321:0.0:0.0679	.	303	P04083	ANXA1_HUMAN	C	303	ENSP00000257497:R303C;ENSP00000366109:R303C	ENSP00000257497:R303C	R	+	1	0	ANXA1	74973813	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.929000	0.75852	1.540000	0.49301	0.655000	0.94253	CGT		0.388	ANXA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052665.1	NM_000700		T	75783993	C	T	75783993	3	4	704	1	0	0	0	0	1	0	0	0	714	652	23	1	949	1	ANXA1	9	75783993	Missense_Mutation	SNP	C	TCGA-KL-8335-01A-11D-2310-10	41987192	75783993	65429438	49	39201											
SPTLC1	10558	broad.mit.edu;hgsc.bcm.edu	37	9	94808322	94808322	+	Silent	SNP	C	C	T			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr9:94808322C>T	ENST00000262554.2	-	12	1100	c.1095G>A	c.(1093-1095)gtG>gtA	p.V365V		NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	365					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)|SPOTS complex (GO:0035339)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)	TTTCCTTCAACACTGCAAAAA	0.308																																																0													79	79	79					9																	94808322		2202	4298	6500	SO:0001819	synonymous_variant	10558			Y08685	CCDS6692.1, CCDS6693.1	9q22.31	2014-09-17	2003-12-02		ENSG00000090054	ENSG00000090054	2.3.1.50		11277	protein-coding gene	gene with protein product		605712	"hereditary sensory neuropathy, type 1"	HSN1		9363775	Standard	NM_006415		Approved	LCB1, SPTI, HSAN1, hLCB1	uc004arl.1	O15269	OTTHUMG00000021047	ENST00000262554.2:c.1095G>A	9.37:g.94808322C>T			A8K681|Q5VWB4|Q96IX6	Silent	SNP	ENST00000262554.2	37	CCDS6692.1																																																																																				0.308	SPTLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055553.1	NM_006415		T	94808322	C	T	94808322	2	4	704	1	0	0	0	0	0	0	0	1	15128	465	17	2		2	SPTLC1	9	94808322	Silent	SNP	C	TCGA-KL-8335-01A-11D-2310-10	19024329	94808322	46405109	50	39202											
ZNF462	58499	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	9	109689044	109689044	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr9:109689044G>A	ENST00000277225.5	+	3	3140	c.2851G>A	c.(2851-2853)Gtg>Atg	p.V951M	ZNF462_ENST00000441147.2_5'Flank|ZNF462_ENST00000457913.1_Missense_Mutation_p.V951M			Q96JM2	ZN462_HUMAN	zinc finger protein 462	951					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						GCATCCCACGGTGAAGATCAA	0.488																																																0													108	103	105					9																	109689044		2203	4300	6503	SO:0001583	missense	58499			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.2851G>A	9.37:g.109689044G>A	ENSP00000277225:p.Val951Met		Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.571617	0.65765	.	.	ENSG00000148143	ENST00000277225;ENST00000457913	T;T	0.08008	3.14;3.55	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.25717	0.0626	L	0.51422	1.61	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.995	T	0.00102	-1.2062	9	.	.	.	.	19.7468	0.96255	0.0:0.0:1.0:0.0	.	951;951	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	M	951	ENSP00000277225:V951M;ENSP00000414570:V951M	.	V	+	1	0	ZNF462	108728865	1.000000	0.71417	0.627000	0.29227	0.864000	0.49448	9.713000	0.98740	2.731000	0.93534	0.650000	0.86243	GTG		0.488	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		A	109689044	G	A	109689044	3	1	704	1	0	0	0	0	1	0	0	0	17931	1261	44	2	2857	2	ZNF462	9	109689044	Missense_Mutation	SNP	G	TCGA-KL-8335-01A-11D-2310-10	14880722	109689044	31524387	51	39203											
ZNF462	58499	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	9	109691641	109691641	+	Silent	SNP	G	G	A			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr9:109691641G>A	ENST00000277225.5	+	3	5737	c.5448G>A	c.(5446-5448)gaG>gaA	p.E1816E	ZNF462_ENST00000441147.2_Silent_p.E661E|ZNF462_ENST00000457913.1_Silent_p.E1816E			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1816					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						ATGAGCATGAGAAGCCCACAC	0.552																																																0													90	87	88					9																	109691641		2203	4300	6503	SO:0001819	synonymous_variant	58499			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.5448G>A	9.37:g.109691641G>A			Q5T0T4|Q8N408	Silent	SNP	ENST00000277225.5	37	CCDS35096.1																																																																																				0.552	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		A	109691641	G	A	109691641	2	1	704	1	0	0	0	0	0	0	0	1	17931	933	33	2		2	ZNF462	9	109691641	Silent	SNP	G	TCGA-KL-8335-01A-11D-2310-10	2597	109691641	31521790	52	39204											
ZFP37	7539	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	9	115806036	115806036	+	Missense_Mutation	SNP	C	C	A			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr9:115806036C>A	ENST00000374227.3	-	4	889	c.862G>T	c.(862-864)Gct>Tct	p.A288S	ZFP37_ENST00000555206.1_Missense_Mutation_p.A289S|ZFP37_ENST00000553380.1_Missense_Mutation_p.A303S	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	288					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						TTCACACAAGCTTGAGGTTTT	0.393																																																0													214	204	208					9																	115806036		2203	4300	6503	SO:0001583	missense	7539			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.862G>T	9.37:g.115806036C>A	ENSP00000363344:p.Ala288Ser		A0AVJ9|B4DVX4|G3V3L7|Q5T7Q4	Missense_Mutation	SNP	ENST00000374227.3	37	CCDS6787.1	.	.	.	.	.	.	.	.	.	.	C	8.356	0.832000	0.16820	.	.	ENSG00000136866	ENST00000374227;ENST00000555206;ENST00000553380	T;T;T	0.05513	3.51;3.43;3.5	4.12	1.06	0.20224	.	1.125650	0.06806	N	0.789524	T	0.03305	0.0096	N	0.03881	-0.34	0.09310	N	1	B;B;B	0.22003	0.063;0.063;0.027	B;B;B	0.21917	0.037;0.037;0.018	T	0.45512	-0.9256	10	0.40728	T	0.16	-0.0391	6.5594	0.22478	0.0:0.5597:0.0:0.4403	.	289;303;288	G3V3L7;Q9Y6Q3-2;Q9Y6Q3	.;.;ZFP37_HUMAN	S	288;289;303	ENSP00000363344:A288S;ENSP00000451310:A289S;ENSP00000452552:A303S	ENSP00000363344:A288S	A	-	1	0	ZFP37	114845857	0.000000	0.05858	0.000000	0.03702	0.203000	0.24098	-0.302000	0.08221	0.231000	0.21079	0.655000	0.94253	GCT		0.393	ZFP37-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055439.1	NM_003408		A	115806036	C	A	115806036	3	1	704	1	0	0	0	0	1	0	0	0	17653	797	28	4	1034	4	ZFP37	9	115806036	Missense_Mutation	SNP	C	TCGA-KL-8335-01A-11D-2310-10	6114395	115806036	25407395	53	39205											
MEGF9	1955	ucsc.edu	37	9	123476127	123476127	+	Silent	SNP	G	G	A			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr9:123476127G>A	ENST00000373930.3	-	1	621	c.510C>T	c.(508-510)ccC>ccT	p.P170P	MEGF9_ENST00000426959.1_Silent_p.P162P	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	170	Pro-rich.					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						TCGGGGTCCGGGGAGTCGTGG	0.731																																																0													17	22	21					9																	123476127		1843	4050	5893	SO:0001819	synonymous_variant	1955			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.510C>T	9.37:g.123476127G>A			B7Z315|O75098	Silent	SNP	ENST00000373930.3	37	CCDS48010.2																																																																																				0.731	MEGF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055513.1	NM_001080497		A	123476127	G	A	123476127	2	1	704	1	0	0	0	0	0	0	0	1	9466	1219	43	2		2	MEGF9	9	123476127	Silent	SNP	G	TCGA-KL-8335-01A-11D-2310-10	7670091	123476127	17737304	54	39206											
AKR1C4	1109	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	10	5254675	5254675	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr10:5254675C>T	ENST00000380448.1	+	8	920	c.667C>T	c.(667-669)Cga>Tga	p.R223*	AKR1C4_ENST00000263126.1_Nonsense_Mutation_p.R223*			P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	223					androgen metabolic process (GO:0008209)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular response to jasmonic acid stimulus (GO:0071395)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase activity (GO:0047023)|bile acid transmembrane transporter activity (GO:0015125)|chlordecone reductase activity (GO:0047743)|electron carrier activity (GO:0009055)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|retinal dehydrogenase activity (GO:0001758)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18						GGGAACCCAACGACATAAACT	0.393																																																0													77	71	73					10																	5254675		2203	4300	6503	SO:0001587	stop_gained	1109			M33375	CCDS7064.1	10p15.1	2012-12-04	2012-12-04		ENSG00000198610	ENSG00000198610	1.1.1.225	"Aldo-keto reductases"	387	protein-coding gene	gene with protein product	"chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4"	600451	"aldo-keto reductase family 1, member C4 (chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4)"	CHDR		7789999	Standard	NM_001818		Approved	DD4, HAKRA, C11, 3-alpha-HSD, CDR, MGC22581	uc001ihw.2	P17516	OTTHUMG00000017591	ENST00000380448.1:c.667C>T	10.37:g.5254675C>T	ENSP00000369814:p.Arg223*		Q5T6A3|Q8WW84|Q9NS54	Nonsense_Mutation	SNP	ENST00000380448.1	37	CCDS7064.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.626677	0.87560	.	.	ENSG00000198610	ENST00000380448;ENST00000263126	.	.	.	3.13	0.608	0.17569	.	0.000000	0.51477	D	0.000088	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.081	0.30744	0.6583:0.3417:0.0:0.0	.	.	.	.	X	223	.	ENSP00000263126:R223X	R	+	1	2	AKR1C4	5244675	0.000000	0.05858	0.001000	0.08648	0.120000	0.20174	-0.385000	0.07379	0.249000	0.21456	0.313000	0.20887	CGA		0.393	AKR1C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046543.2	NM_001818		T	5254675	C	T	5254675	4	4	704	1	0	0	0	0	0	1	0	0	472	528	19	1	689	1	AKR1C4	10	5254675	Nonsense_Mutation	SNP	C	TCGA-KL-8335-01A-11D-2310-10		5254675	130280072	55	39207											
SPAG6	9576	broad.mit.edu	37	10	22675803	22675803	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr10:22675803C>T	ENST00000376624.3	+	5	735	c.593C>T	c.(592-594)tCt>tTt	p.S198F	SPAG6_ENST00000376601.1_Intron|SPAG6_ENST00000313311.6_Missense_Mutation_p.S198F|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000538630.1_Missense_Mutation_p.S173F|SPAG6_ENST00000376603.2_Missense_Mutation_p.S274F	NM_001253855.1|NM_012443.3	NP_001240784.1|NP_036575.1	O75602	SPAG6_HUMAN	sperm associated antigen 6	198					cell projection organization (GO:0030030)|spermatid development (GO:0007286)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						GCAAAGCATTCTCCAGAGTTA	0.443																																																0													115	109	111					10																	22675803		2203	4300	6503	SO:0001583	missense	9576			AF079363	CCDS7139.1, CCDS7140.1, CCDS58071.1, CCDS73072.1	10p12.31	2014-01-21			ENSG00000077327	ENSG00000077327		"Armadillo repeat containing"	11215	protein-coding gene	gene with protein product	"axoneme central apparatus protein"	605730				10493827	Standard	NM_012443		Approved	Repro-SA-1, pf16, CT141	uc001iri.3	O75602	OTTHUMG00000017808	ENST00000376624.3:c.593C>T	10.37:g.22675803C>T	ENSP00000365811:p.Ser198Phe		A8K1I8|B4DXZ4|Q5VUX5|Q5VUX6|Q5VUX7|Q6FI74|Q8NHQ6	Missense_Mutation	SNP	ENST00000376624.3	37	CCDS7139.1	.	.	.	.	.	.	.	.	.	.	C	13.30	2.196679	0.38806	.	.	ENSG00000077327	ENST00000376624;ENST00000376603;ENST00000538630;ENST00000313311	T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67	5.6	2.7	0.31948	Armadillo-like helical (1);Armadillo-type fold (1);	0.201653	0.53938	N	0.000046	T	0.75273	0.3827	M	0.69358	2.11	0.58432	D	0.999999	B;P;P;P	0.46952	0.391;0.887;0.732;0.573	P;P;P;P	0.54401	0.751;0.673;0.635;0.751	T	0.75668	-0.3238	10	0.87932	D	0	-18.4621	8.521	0.33275	0.0:0.7218:0.1379:0.1403	.	173;274;198;198	B4DXZ4;O75602-3;O75602-2;O75602	.;.;.;SPAG6_HUMAN	F	198;274;173;198	ENSP00000365811:S198F;ENSP00000365788:S274F;ENSP00000441325:S173F;ENSP00000323599:S198F	ENSP00000323599:S198F	S	+	2	0	SPAG6	22715809	1.000000	0.71417	1.000000	0.80357	0.092000	0.18411	4.029000	0.57253	0.818000	0.34468	-0.253000	0.11424	TCT		0.443	SPAG6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047187.1			T	22675803	C	T	22675803	3	4	704	1	0	0	0	0	1	0	0	0	14988	913	32	2	611	2	SPAG6	10	22675803	Missense_Mutation	SNP	C	TCGA-KL-8335-01A-11D-2310-10	17421128	22675803	112858944	56	39208											
ZNF365	22891	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	10	64136341	64136341	+	Missense_Mutation	SNP	C	C	A			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr10:64136341C>A	ENST00000395254.3	+	2	669	c.389C>A	c.(388-390)aCt>aAt	p.T130N	ZNF365_ENST00000395255.3_Missense_Mutation_p.T130N|ZNF365_ENST00000410046.3_Missense_Mutation_p.T130N|ZNF365_ENST00000466727.1_Intron	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	189										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					CAGACCTACACTGCCATGGAC	0.527																																																0													98	83	88					10																	64136341		2203	4300	6503	SO:0001583	missense	22891			AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"Zinc fingers, C2H2-type"	18194	protein-coding gene	gene with protein product	"Talanin"	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395254.3:c.389C>A	10.37:g.64136341C>A	ENSP00000378674:p.Thr130Asn			Missense_Mutation	SNP	ENST00000395254.3	37	CCDS31209.1	.	.	.	.	.	.	.	.	.	.	C	14.01	2.409271	0.42715	.	.	ENSG00000138311	ENST00000395254;ENST00000395255;ENST00000410046	T;T;T	0.35973	1.28;1.28;1.28	5.61	4.7	0.59300	.	0.513588	0.19924	N	0.103030	T	0.36496	0.0969	M	0.64997	1.995	0.58432	D	0.999995	P;B;B;B	0.47910	0.902;0.078;0.161;0.328	B;B;B;B	0.43478	0.421;0.107;0.107;0.107	T	0.17868	-1.0355	10	0.46703	T	0.11	-3.0892	8.0517	0.30581	0.0:0.7281:0.1338:0.1381	.	130;130;130;145	Q70YC5-3;Q70YC5-2;Q70YC5;Q70YC5-4	.;.;ZN365_HUMAN;.	N	130	ENSP00000378674:T130N;ENSP00000378675:T130N;ENSP00000387091:T130N	ENSP00000378674:T130N	T	+	2	0	ZNF365	63806347	0.348000	0.24861	0.713000	0.30519	0.989000	0.77384	1.714000	0.37961	1.344000	0.45657	0.555000	0.69702	ACT		0.527	ZNF365-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048238.2	NM_014951		A	64136341	C	A	64136341	3	1	704	1	0	0	0	0	1	0	0	0	17874	565	20	4	391	4	ZNF365	10	64136341	Missense_Mutation	SNP	C	TCGA-KL-8335-01A-11D-2310-10	41460538	64136341	71398406	57	39209											
SORCS3	22986	broad.mit.edu;mdanderson.org	37	10	106970992	106970992	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr10:106970992T>C	ENST00000369701.3	+	17	2586	c.2359T>C	c.(2359-2361)Tac>Cac	p.Y787H	SORCS3_ENST00000369699.4_Missense_Mutation_p.Y73H	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	787					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)		TGGTCAAAGCTACCTTAACAG	0.468																																					NSCLC(116;1497 1690 7108 13108 14106)											0													104	84	91					10																	106970992		2203	4300	6503	SO:0001583	missense	22986			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.2359T>C	10.37:g.106970992T>C	ENSP00000358715:p.Tyr787His		Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	T	18.41	3.617745	0.66787	.	.	ENSG00000156395	ENST00000369701;ENST00000393176;ENST00000369699	T;T;T	0.52057	1.94;0.68;1.09	5.93	5.93	0.95920	VPS10 (1);	0.131761	0.53938	D	0.000059	T	0.72953	0.3525	M	0.86953	2.85	0.58432	D	0.999993	D	0.76494	0.999	D	0.72982	0.979	T	0.77242	-0.2660	9	.	.	.	.	16.3943	0.83563	0.0:0.0:0.0:1.0	.	787	Q9UPU3	SORC3_HUMAN	H	787;148;73	ENSP00000358715:Y787H;ENSP00000376876:Y148H;ENSP00000358713:Y73H	.	Y	+	1	0	SORCS3	106960982	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.698000	0.84413	2.281000	0.76405	0.533000	0.62120	TAC		0.468	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		C	106970992	T	C	106970992	3	2	704	1	0	0	0	0	1	0	0	0	14938	1522	53	3	2425	3	SORCS3	10	106970992	Missense_Mutation	SNP	T	TCGA-KL-8335-01A-11D-2310-10	42834651	106970992	28563755	58	39210											
MUC5B	727897	mdanderson.org	37	11	1271809	1271809	+	Missense_Mutation	SNP	G	G	A	rs2334756		TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr11:1271809G>A	ENST00000529681.1	+	31	13757	c.13699G>A	c.(13699-13701)Gcc>Acc	p.A4567T	MUC5B_ENST00000447027.1_Missense_Mutation_p.A4570T|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4567	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.			A -> T (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)		AGTGCTTACCGCCACGGCCAC	0.647																																																0													127	165	153					11																	1271809		2072	4199	6271	SO:0001583	missense	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.13699G>A	11.37:g.1271809G>A	ENSP00000436812:p.Ala4567Thr		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	-	6.667	0.491655	0.12702	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844;ENST00000535652	T;T	0.21191	2.02;2.2	2.37	-0.495	0.12030	.	.	.	.	.	T	0.04998	0.0134	N	0.00413	-1.525	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.36040	-0.9764	9	0.87932	D	0	.	3.6809	0.08310	0.5528:0.1921:0.2551:0.0	rs2334756;rs2943505	5040;4570	A7Y9J9;E9PBJ0	.;.	T	4567;4570;4511;4417;344	ENSP00000436812:A4567T;ENSP00000415793:A4570T	ENSP00000343037:A4511T	A	+	1	0	MUC5B	1228385	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-3.382000	0.00490	-1.160000	0.02804	-1.451000	0.01035	GCC		0.647	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		A	1271809	G	A	1271809	3	1	704	1	0	0	0	0	1	0	0	0	9981	1087	38	1	13830	1	MUC5B	11	1271809	Missense_Mutation	SNP	G	TCGA-KL-8335-01A-11D-2310-10		1271809	133734707	59	39211											
FOLH1	2346	broad.mit.edu;mdanderson.org	37	11	49175930	49175930	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr11:49175930G>A	ENST00000256999.2	-	16	1998	c.1738C>T	c.(1738-1740)Cga>Tga	p.R580*	FOLH1_ENST00000356696.3_Nonsense_Mutation_p.R580*|FOLH1_ENST00000340334.7_Nonsense_Mutation_p.R565*|FOLH1_ENST00000343844.4_Nonsense_Mutation_p.R272*|FOLH1_ENST00000533034.1_Nonsense_Mutation_p.R565*	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	580	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)	ATCCCTCCTCGAACCTGGGCC	0.413																																																0													76	64	68					11																	49175930		2200	4278	6478	SO:0001587	stop_gained	2346			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.1738C>T	11.37:g.49175930G>A	ENSP00000256999:p.Arg580*		A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Nonsense_Mutation	SNP	ENST00000256999.2	37	CCDS7946.1	.	.	.	.	.	.	.	.	.	.	G	39	7.351063	0.98228	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000343844;ENST00000533034	.	.	.	3.62	3.62	0.41486	.	0.000000	0.45606	D	0.000343	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	13.124	0.59342	0.0:0.0:1.0:0.0	.	.	.	.	X	580;580;565;272;565	.	ENSP00000256999:R580X	R	-	1	2	FOLH1	49132506	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.373000	0.66162	2.044000	0.60594	0.404000	0.27445	CGA		0.413	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476		A	49175930	G	A	49175930	4	1	704	1	0	0	0	0	0	1	0	0	5981	1066	37	1	530	1	FOLH1	11	49175930	Nonsense_Mutation	SNP	G	TCGA-KL-8335-01A-11D-2310-10	47904121	49175930	85830586	60	39212											
OR9I1	219954	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	11	57886020	57886020	+	Silent	SNP	G	G	A			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr11:57886020G>A	ENST00000302610.1	-	1	896	c.897C>T	c.(895-897)gaC>gaT	p.D299D	OR9Q1_ENST00000335397.3_Intron	NM_001005211.1	NP_001005211.1	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I, member 1	299						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)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				TTCTGAAGGCGTCTTTTACAT	0.428																																																0													125	130	129					11																	57886020		2201	4296	6497	SO:0001819	synonymous_variant	219954			AB065733	CCDS31542.1	11q12.1	2012-08-09			ENSG00000172377	ENSG00000172377		"GPCR / Class A : Olfactory receptors"	14718	protein-coding gene	gene with protein product							Standard	NM_001005211		Approved		uc021qjl.1	Q8NGQ6	OTTHUMG00000167404	ENST00000302610.1:c.897C>T	11.37:g.57886020G>A			Q6IFH0|Q96RA8	Silent	SNP	ENST00000302610.1	37	CCDS31542.1																																																																																				0.428	OR9I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394539.1	NM_001005211		A	57886020	G	A	57886020	2	1	704	1	0	0	0	0	0	0	0	1	11255	1136	40	1		1	OR9I1	11	57886020	Silent	SNP	G	TCGA-KL-8335-01A-11D-2310-10	8710090	57886020	77120496	61	39213											
INTS5	80789	hgsc.bcm.edu;ucsc.edu	37	11	62417411	62417411	+	Silent	SNP	G	G	A			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr11:62417411G>A	ENST00000330574.2	-	2	193	c.141C>T	c.(139-141)ggC>ggT	p.G47G	RP11-831H9.11_ENST00000528405.1_3'UTR	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	47					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						AGAGTTGGTGGCCCAGAATGG	0.537																																																0													73	81	78					11																	62417411		2202	4299	6501	SO:0001819	synonymous_variant	80789			AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"KIAA1698"	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.141C>T	11.37:g.62417411G>A			Q8N6W5|Q9C0G5	Silent	SNP	ENST00000330574.2	37	CCDS8027.1																																																																																				0.537	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395327.1	NM_030628		A	62417411	G	A	62417411	2	1	704	1	0	0	0	0	0	0	0	1	7783	1190	42	2		2	INTS5	11	62417411	Silent	SNP	G	TCGA-KL-8335-01A-11D-2310-10	4531391	62417411	72589105	62	39214											
KDM2A	22992	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	11	67022407	67022407	+	Missense_Mutation	SNP	A	A	T			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr11:67022407A>T	ENST00000529006.2	+	21	3816	c.3370A>T	c.(3370-3372)Atc>Ttc	p.I1124F	KDM2A_ENST00000530342.1_Missense_Mutation_p.I685F|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000308783.5_Missense_Mutation_p.I582F|KDM2A_ENST00000398645.2_3'UTR	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	1124					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						CGTCACCTTGATCGACCTTCG	0.502																																																0													100	95	97					11																	67022407		2034	4199	6233	SO:0001583	missense	22992			BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"F-boxes / Leucine-rich repeats", "Chromatin-modifying enzymes / K-demethylases"	13606	protein-coding gene	gene with protein product	"F-box protein FBL11", "jumonji C domain-containing histone demethylase 1A"	605657	"F-box and leucine-rich repeat protein 11"	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.3370A>T	11.37:g.67022407A>T	ENSP00000432786:p.Ile1124Phe		D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Missense_Mutation	SNP	ENST00000529006.2	37	CCDS44657.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.978847	0.74360	.	.	ENSG00000173120	ENST00000529006;ENST00000530342;ENST00000308783	T;T;T	0.18810	2.19;2.19;2.19	5.32	5.32	0.75619	.	0.065369	0.64402	D	0.000007	T	0.39572	0.1083	M	0.69463	2.115	0.49389	D	0.999786	D;P	0.58620	0.983;0.651	P;B	0.56088	0.791;0.353	T	0.28681	-1.0036	10	0.87932	D	0	-15.8009	15.4479	0.75248	1.0:0.0:0.0:0.0	.	685;1124	E9PIL6;Q9Y2K7	.;KDM2A_HUMAN	F	1124;685;582	ENSP00000432786:I1124F;ENSP00000435776:I685F;ENSP00000309302:I582F	ENSP00000309302:I582F	I	+	1	0	KDM2A	66778983	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.457000	0.60088	2.228000	0.72767	0.533000	0.62120	ATC		0.502	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393140.2	NM_012308		T	67022407	A	T	67022407	3	4	704	1	0	0	0	0	1	0	0	0	8126	333	12	5	3448	5	KDM2A	11	67022407	Missense_Mutation	SNP	A	TCGA-KL-8335-01A-11D-2310-10	4604996	67022407	67984109	63	39215											
PLEKHB1	58473	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	11	73360070	73360070	+	Missense_Mutation	SNP	C	C	A			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr11:73360070C>A	ENST00000354190.5	+	2	463	c.32C>A	c.(31-33)tCc>tAc	p.S11Y	PLEKHB1_ENST00000544532.1_3'UTR|PLEKHB1_ENST00000543085.1_5'UTR|PLEKHB1_ENST00000398492.4_Missense_Mutation_p.S11Y|PLEKHB1_ENST00000398494.4_5'UTR|PLEKHB1_ENST00000535129.1_5'UTR|PLEKHB1_ENST00000227214.6_5'UTR	NM_021200.2	NP_067023.1	Q9UF11	PKHB1_HUMAN	pleckstrin homology domain containing, family B (evectins) member 1	11					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						CCGCCTGACTCCGCTCTGGAA	0.662																																																0													22	27	25					11																	73360070		2109	4234	6343	SO:0001583	missense	58473			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.32C>A	11.37:g.73360070C>A	ENSP00000346127:p.Ser11Tyr		A8K0Q5|B2RBP1|B7Z716|Q9UBF5|Q9UI37|Q9UI44	Missense_Mutation	SNP	ENST00000354190.5	37	CCDS44672.1	.	.	.	.	.	.	.	.	.	.	C	13.28	2.191379	0.38707	.	.	ENSG00000021300	ENST00000354190;ENST00000398492	.	.	.	4.41	3.49	0.39957	.	0.410743	0.23249	N	0.050278	T	0.26521	0.0648	N	0.08118	0	0.33815	D	0.628319	P;D	0.54207	0.553;0.965	B;P	0.47981	0.277;0.563	T	0.32508	-0.9904	9	0.59425	D	0.04	-3.2102	7.619	0.28175	0.0:0.8878:0.0:0.1122	.	11;11	Q9UF11-2;Q9UF11	.;PKHB1_HUMAN	Y	11	.	ENSP00000346127:S11Y	S	+	2	0	PLEKHB1	73037718	0.431000	0.25546	0.925000	0.36789	0.985000	0.73830	1.606000	0.36826	2.454000	0.82982	0.655000	0.94253	TCC		0.662	PLEKHB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397593.1			A	73360070	C	A	73360070	3	1	704	1	0	0	0	0	1	0	0	0	12066	855	30	4	38	4	PLEKHB1	11	73360070	Missense_Mutation	SNP	C	TCGA-KL-8335-01A-11D-2310-10	6337663	73360070	61646446	64	39216											
PDE3A	5139	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	12	20522512	20522512	+	Silent	SNP	G	G	A			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr12:20522512G>A	ENST00000359062.3	+	1	334	c.294G>A	c.(292-294)gcG>gcA	p.A98A	RP11-284H19.1_ENST00000535755.1_RNA	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	98	Poly-Ala.				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)	CGGCGGCGGCGGAGGAGGAGG	0.741																																																0													4	4	4					12																	20522512		2028	4033	6061	SO:0001819	synonymous_variant	5139				CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"Phosphodiesterases"	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.294G>A	12.37:g.20522512G>A			O60865|Q13348|Q17RD1	Silent	SNP	ENST00000359062.3	37	CCDS31754.1																																																																																				0.741	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			A	20522512	G	A	20522512	2	1	704	1	0	0	0	0	0	0	0	1	11639	1103	39	1		1	PDE3A	12	20522512	Silent	SNP	G	TCGA-KL-8335-01A-11D-2310-10		20522512	113329383	65	39217											
NT5DC3	51559	broad.mit.edu	37	12	104171822	104171822	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr12:104171822T>C	ENST00000392876.3	-	14	1472	c.1432A>G	c.(1432-1434)Agc>Ggc	p.S478G		NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	478						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						CGGAACAGGCTTCCAAACTGG	0.453																																																0													81	82	82					12																	104171822		2203	4300	6503	SO:0001583	missense	51559			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.1432A>G	12.37:g.104171822T>C	ENSP00000376615:p.Ser478Gly		Q9NUM7|Q9P2T2|Q9P2T3	Missense_Mutation	SNP	ENST00000392876.3	37	CCDS41824.1	.	.	.	.	.	.	.	.	.	.	T	18.33	3.600902	0.66332	.	.	ENSG00000111696	ENST00000392876	T	0.25749	1.78	5.8	5.8	0.92144	HAD-like domain (1);	0.000000	0.85682	D	0.000000	T	0.62804	0.2458	M	0.93808	3.46	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.73783	-0.3874	10	0.87932	D	0	-36.2887	16.1549	0.81657	0.0:0.0:0.0:1.0	.	478	Q86UY8	NT5D3_HUMAN	G	478	ENSP00000376615:S478G	ENSP00000376615:S478G	S	-	1	0	NT5DC3	102695952	1.000000	0.71417	0.982000	0.44146	0.008000	0.06430	5.939000	0.70179	2.209000	0.71365	0.533000	0.62120	AGC		0.453	NT5DC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347118.2	NM_016575		C	104171822	T	C	104171822	3	2	704	1	0	0	0	0	1	0	0	0	10694	1609	56	3	218	3	NT5DC3	12	104171822	Missense_Mutation	SNP	T	TCGA-KL-8335-01A-11D-2310-10	83649310	104171822	29680073	66	39218											
EBPL	84650	broad.mit.edu	37	13	50235138	50235138	+	Missense_Mutation	SNP	T	T	G			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr13:50235138T>G	ENST00000242827.6	-	4	637	c.587A>C	c.(586-588)cAg>cCg	p.Q196P	EBPL_ENST00000378270.5_3'UTR|EBPL_ENST00000378272.5_3'UTR|EBPL_ENST00000495963.2_5'UTR|EBPL_ENST00000378284.2_3'UTR	NM_032565.3	NP_115954.1	Q9BY08	EBPL_HUMAN	emopamil binding protein-like	196					sterol metabolic process (GO:0016125)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cholestenol delta-isomerase activity (GO:0047750)	p.Q196P(2)		endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.06e-09)		GGTTTCTTTCTGATGCATTTT	0.383																																					NSCLC(39;857 1083 36109 42364 51411)											2	Substitution - Missense(2)	endometrium(2)											73	73	73					13																	50235138		2203	4300	6503	SO:0001583	missense	84650			AF243433	CCDS9420.1, CCDS61334.1	13q12-q13	2008-02-05			ENSG00000123179	ENSG00000123179			18061	protein-coding gene	gene with protein product							Standard	NM_032565		Approved	EBRP	uc001vdg.3	Q9BY08	OTTHUMG00000016920	ENST00000242827.6:c.587A>C	13.37:g.50235138T>G	ENSP00000242827:p.Gln196Pro		A6NJ59|Q569H7|Q5JVN2|Q5JVN3|Q5JVN4|Q5JVN5|Q5JVN6	Missense_Mutation	SNP	ENST00000242827.6	37	CCDS9420.1	.	.	.	.	.	.	.	.	.	.	T	15.06	2.722268	0.48728	.	.	ENSG00000123179	ENST00000242827	D	0.97994	-4.65	5.61	-2.45	0.06481	.	1.466260	0.03646	N	0.240220	D	0.94876	0.8344	L	0.47716	1.5	0.09310	N	1	B	0.09022	0.002	B	0.12837	0.008	D	0.86530	0.1821	10	0.30078	T	0.28	-0.1548	6.1064	0.20075	0.3657:0.0:0.2518:0.3825	.	196	Q9BY08	EBPL_HUMAN	P	196	ENSP00000242827:Q196P	ENSP00000242827:Q196P	Q	-	2	0	EBPL	49133139	0.002000	0.14202	0.003000	0.11579	0.996000	0.88848	-0.059000	0.11731	-0.151000	0.11176	0.528000	0.53228	CAG		0.383	EBPL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044932.2	NM_032565		G	50235138	T	G	50235138	3	3	704	1	0	0	0	0	1	0	0	0	4889	1580	55	5	37	5	EBPL	13	50235138	Missense_Mutation	SNP	T	TCGA-KL-8335-01A-11D-2310-10		50235138	64934740	67	39219											
C14orf93	60686	hgsc.bcm.edu	37	14	23468114	23468114	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr14:23468114G>A	ENST00000299088.6	-	2	548	c.119C>T	c.(118-120)cCt>cTt	p.P40L	C14orf93_ENST00000397377.1_Intron|C14orf93_ENST00000406429.2_Missense_Mutation_p.P40L|C14orf93_ENST00000397379.3_Missense_Mutation_p.P40L|RP11-298I3.4_ENST00000555294.1_RNA|C14orf93_ENST00000341470.4_Missense_Mutation_p.P40L|C14orf93_ENST00000557513.1_5'Flank|C14orf93_ENST00000397382.4_Missense_Mutation_p.P40L|RP11-298I3.4_ENST00000556503.1_RNA	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	Q9H972	CN093_HUMAN	chromosome 14 open reading frame 93	40						extracellular region (GO:0005576)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		GCTGGGAGGAGGATTCCCACC	0.582																																																0													57	54	55					14																	23468114		2203	4300	6503	SO:0001583	missense	60686			AK023026	CCDS9583.1, CCDS61399.1, CCDS61400.1	14q11.1	2012-09-25			ENSG00000100802	ENSG00000100802			20162	protein-coding gene	gene with protein product							Standard	XM_005267971		Approved	FLJ12154	uc001wih.3	Q9H972	OTTHUMG00000028712	ENST00000299088.6:c.119C>T	14.37:g.23468114G>A	ENSP00000299088:p.Pro40Leu		B7WP03|D3DS38|D3DS39|Q86SE6|Q96CF7|Q9HA68	Missense_Mutation	SNP	ENST00000299088.6	37	CCDS9583.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.532054	0.85812	.	.	ENSG00000100802	ENST00000299088;ENST00000341470;ENST00000397379;ENST00000397382;ENST00000406429;ENST00000397380;ENST00000553675;ENST00000553931;ENST00000555575;ENST00000553958;ENST00000555098;ENST00000555998	T;T;T;T;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;0.36;0.36;0.36;0.36	5.93	5.93	0.95920	.	0.264815	0.33496	N	0.004842	T	0.59307	0.2184	L	0.27053	0.805	0.49798	D	0.999823	D;D	0.61697	0.99;0.99	P;P	0.61592	0.891;0.891	T	0.59925	-0.7362	10	0.56958	D	0.05	-29.0913	17.2707	0.87101	0.0:0.0:1.0:0.0	.	40;40	Q9H972;Q9H972-2	CN093_HUMAN;.	L	40	ENSP00000299088:P40L;ENSP00000341353:P40L;ENSP00000380535:P40L;ENSP00000380538:P40L;ENSP00000384768:P40L;ENSP00000380536:P40L;ENSP00000450771:P40L;ENSP00000452036:P40L;ENSP00000451111:P40L;ENSP00000451456:P40L;ENSP00000450866:P40L;ENSP00000451879:P40L	ENSP00000299088:P40L	P	-	2	0	C14orf93	22537954	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	5.305000	0.65750	2.826000	0.97356	0.655000	0.94253	CCT		0.582	C14orf93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071688.5	NM_021944		A	23468114	G	A	23468114	3	1	704	1	0	0	0	0	1	0	0	0	1784	1000	35	2	1521	2	C14orf93	14	23468114	Missense_Mutation	SNP	G	TCGA-KL-8335-01A-11D-2310-10		23468114	83881426	68	39220											
COCH	1690	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	14	31355089	31355089	+	Missense_Mutation	SNP	C	C	G			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr14:31355089C>G	ENST00000396618.3	+	11	1104	c.1048C>G	c.(1048-1050)Ctg>Gtg	p.L350V	COCH_ENST00000475087.1_Missense_Mutation_p.L350V|RP11-829H16.3_ENST00000556786.1_RNA|RP11-829H16.3_ENST00000555421.1_RNA|COCH_ENST00000382493.4_Missense_Mutation_p.L201V|COCH_ENST00000216361.4_Missense_Mutation_p.L350V|COCH_ENST00000460581.2_Missense_Mutation_p.L238V|RP11-829H16.3_ENST00000555108.1_RNA|RP11-829H16.3_ENST00000468444.2_RNA	NM_004086.2	NP_004077.1	O43405	COCH_HUMAN	cochlin	350					defense response to bacterium (GO:0042742)|positive regulation of innate immune response (GO:0045089)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		GGTACAGAAGCTGTGCACTCA	0.448																																																0													107	93	98					14																	31355089		2203	4300	6503	SO:0001583	missense	1690				CCDS9640.1	14q11.2-q13	2013-05-01	2013-05-01		ENSG00000100473	ENSG00000100473			2180	protein-coding gene	gene with protein product		603196	"coagulation factor C (Limulus polyphemus homolog); cochlin", "coagulation factor C homolog, cochlin (Limulus polyphemus)"	DFNA31, DFNA9		9806553	Standard	NM_004086		Approved	COCH-5B2	uc001wqp.2	O43405	OTTHUMG00000029432	ENST00000396618.3:c.1048C>G	14.37:g.31355089C>G	ENSP00000379862:p.Leu350Val		A8K9K9|D3DS84|Q96IU6	Missense_Mutation	SNP	ENST00000396618.3	37	CCDS9640.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.44|14.44	2.536705|2.536705	0.45176|0.45176	.|.	.|.	ENSG00000100473|ENSG00000100473	ENST00000216361;ENST00000396618;ENST00000475087;ENST00000460581;ENST00000382493|ENST00000542225;ENST00000468826	T;T;T;T;T|.	0.38722|.	1.12;1.12;1.12;1.12;1.12|.	5.92|5.92	5.92|5.92	0.95590|0.95590	von Willebrand factor, type A (1);|.	0.059077|.	0.64402|.	D|.	0.000003|.	T|T	0.47691|0.47691	0.1459|0.1459	N|N	0.17800|0.17800	0.525|0.525	0.46823|0.46823	D|D	0.999214|0.999214	D;P;P|.	0.76494|.	0.999;0.816;0.633|.	D;B;B|.	0.77557|.	0.99;0.152;0.108|.	T|T	0.51004|0.51004	-0.8760|-0.8760	10|6	0.02654|0.87932	T|D	1|0	-14.207|-14.207	11.6235|11.6235	0.51132|0.51132	0.0:0.8631:0.0:0.1369|0.0:0.8631:0.0:0.1369	.|.	201;350;350|.	E7EN67;Q96IU6;O43405|.	.;.;COCH_HUMAN|.	V|R	350;350;350;238;201|237;233	ENSP00000216361:L350V;ENSP00000379862:L350V;ENSP00000451528:L350V;ENSP00000451713:L238V;ENSP00000371933:L201V|.	ENSP00000216361:L350V|ENSP00000440215:S237R	L|S	+|+	1|3	2|2	COCH|COCH	30424840|30424840	0.465000|0.465000	0.25815|0.25815	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	0.829000|0.829000	0.27449|0.27449	2.794000|2.794000	0.96219|0.96219	0.650000|0.650000	0.86243|0.86243	CTG|AGC		0.448	COCH-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276608.1	NM_004086		G	31355089	C	G	31355089	3	3	704	1	0	0	0	0	1	0	0	0	3658	796	28	4	1086	4	COCH	14	31355089	Missense_Mutation	SNP	C	TCGA-KL-8335-01A-11D-2310-10	7886975	31355089	75994451	69	39221											
PYGL	5836	broad.mit.edu;mdanderson.org	37	14	51375670	51375670	+	Silent	SNP	G	G	A			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr14:51375670G>A	ENST00000216392.7	-	18	2513	c.2181C>T	c.(2179-2181)taC>taT	p.Y727Y	PYGL_ENST00000532462.1_Silent_p.Y727Y|PYGL_ENST00000544180.2_Silent_p.Y693Y	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	727					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)	CTTTTGCCTCGTACCTGTGGG	0.433																																																0													72	73	73					14																	51375670		2203	4300	6503	SO:0001819	synonymous_variant	5836				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.2181C>T	14.37:g.51375670G>A			A6NDQ4|B4DUB7|F5H816|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	Silent	SNP	ENST00000216392.7	37	CCDS32080.1																																																																																				0.433	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390654.3	NM_002863		A	51375670	G	A	51375670	2	1	704	1	0	0	0	0	0	0	0	1	12867	1140	40	1		1	PYGL	14	51375670	Silent	SNP	G	TCGA-KL-8335-01A-11D-2310-10	20020581	51375670	55973870	70	39222											
PLD4	122618	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	14	105394159	105394159	+	Missense_Mutation	SNP	G	G	T			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr14:105394159G>T	ENST00000392593.4	+	3	408	c.240G>T	c.(238-240)tgG>tgT	p.W80C	PLD4_ENST00000540372.1_Missense_Mutation_p.W87C	NM_138790.2	NP_620145.2	Q96BZ4	PLD4_HUMAN	phospholipase D family, member 4	80					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)			GCCCAGCTTGGGAGCCCCTGG	0.672																																																0													12	16	15					14																	105394159		1990	4160	6150	SO:0001583	missense	122618				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.240G>T	14.37:g.105394159G>T	ENSP00000376372:p.Trp80Cys		Q6UWD2	Missense_Mutation	SNP	ENST00000392593.4	37	CCDS9995.2	.	.	.	.	.	.	.	.	.	.	G	10.83	1.462284	0.26248	.	.	ENSG00000166428	ENST00000540372;ENST00000392593;ENST00000557573	T;T;T	0.25414	1.86;1.88;1.8	1.41	1.41	0.22369	.	.	.	.	.	T	0.19046	0.0457	N	0.14661	0.345	0.18873	N	0.999985	P;P	0.50819	0.939;0.898	P;B	0.50136	0.632;0.428	T	0.09509	-1.0671	9	0.45353	T	0.12	-8.6828	6.2642	0.20917	0.0:0.0:1.0:0.0	.	87;80	F5H2B5;Q96BZ4	.;PLD4_HUMAN	C	87;80;78	ENSP00000438677:W87C;ENSP00000376372:W80C;ENSP00000451278:W78C	ENSP00000376372:W80C	W	+	3	0	PLD4	104465204	0.007000	0.16637	0.004000	0.12327	0.003000	0.03518	0.760000	0.26475	1.107000	0.41642	0.205000	0.17691	TGG		0.672	PLD4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000291348.2	NM_138790		T	105394159	G	T	105394159	3	4	704	1	0	0	0	0	1	0	0	0	12050	1241	43	4	246	4	PLD4	14	105394159	Missense_Mutation	SNP	G	TCGA-KL-8335-01A-11D-2310-10	54018489	105394159	1955381	71	39223											
GABRB3	2562	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	15	26825479	26825479	+	Silent	SNP	A	A	T			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr15:26825479A>T	ENST00000311550.5	-	6	780	c.669T>A	c.(667-669)gtT>gtA	p.V223V	GABRB3_ENST00000400188.3_Silent_p.V152V|GABRB3_ENST00000299267.4_Silent_p.V223V|GABRB3_ENST00000545868.1_Silent_p.V138V|GABRB3_ENST00000541819.2_Silent_p.V279V	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	223					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TGGCGAAGACAACATTCCTCG	0.557																																																0													114	105	108					15																	26825479		2203	4300	6503	SO:0001819	synonymous_variant	2562				CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4083	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 3"	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.669T>A	15.37:g.26825479A>T			B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Silent	SNP	ENST00000311550.5	37	CCDS10019.1																																																																																				0.557	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			T	26825479	A	T	26825479	2	4	704	1	0	0	0	0	0	0	0	1	6170	117	5	5		5	GABRB3	15	26825479	Silent	SNP	A	TCGA-KL-8335-01A-11D-2310-10		26825479	75705913	72	39224											
AAGAB	79719	bcgsc.ca	37	15	67495157	67495166	+	Stop_Codon_Del	DEL	AATTCAGTGC	AATTCAGTGC	-			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	AATTCAGTGC	AATTCAGTGC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr15:67495157_67495166delAATTCAGTGC	ENST00000261880.5	-	0	1045_1054				AAGAB_ENST00000542650.1_Stop_Codon_Del|AAGAB_ENST00000561452.1_Stop_Codon_Del|AAGAB_ENST00000538028.1_5'UTR	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						protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9						AGTATGAATAATTCAGTGCTCTTCATCAGA	0.433																																																0																																										SO:0001567	stop_retained_variant	79719			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	Exception_encountered	15.37:g.67495157_67495166delAATTCAGTGC	Exception_encountered		B4DG44|Q6FI86|Q7Z5X9|Q9H0P1|Q9HAK0	Frame_Shift_Del	DEL	ENST00000261880.5	37	CCDS42050.1																																																																																				0.433	AAGAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417472.1	NM_024666		-	67495166	AATTCAGTGC	-	67495157	7	5	704	1	0	1	0	1	0	0	0	0	15	116	4	0	1	0	AAGAB	15	67495157	Stop_Codon_Del	DEL	AATTCAGTGC	TCGA-KL-8335-01A-11D-2310-10	40669678	67495157	35036235	73	39225											
HCN4	10021	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	15	73617514	73617514	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr15:73617514C>T	ENST00000261917.3	-	6	2753	c.1760G>A	c.(1759-1761)cGg>cAg	p.R587Q		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	587					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)		CACCAGCTTCCGACAGTTAAA	0.612																																																0													121	114	116					15																	73617514		2198	4297	6495	SO:0001583	missense	10021			AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.1760G>A	15.37:g.73617514C>T	ENSP00000261917:p.Arg587Gln		Q9UMQ7	Missense_Mutation	SNP	ENST00000261917.3	37	CCDS10248.1	.	.	.	.	.	.	.	.	.	.	C	19.14	3.770322	0.69992	.	.	ENSG00000138622	ENST00000261917	D	0.96745	-4.11	3.76	2.83	0.33086	Cyclic nucleotide-binding-like (1);	.	.	.	.	D	0.94338	0.8180	M	0.70595	2.14	0.58432	D	0.999997	D	0.65815	0.995	B	0.39590	0.304	D	0.92630	0.6115	9	0.51188	T	0.08	.	13.1458	0.59461	0.0:0.838:0.162:0.0	.	587	Q9Y3Q4	HCN4_HUMAN	Q	587	ENSP00000261917:R587Q	ENSP00000261917:R587Q	R	-	2	0	HCN4	71404567	1.000000	0.71417	0.995000	0.50966	0.985000	0.73830	5.838000	0.69388	0.779000	0.33543	0.561000	0.74099	CGG		0.612	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	NM_005477		T	73617514	C	T	73617514	3	4	704	1	0	0	0	0	1	0	0	0	7001	652	23	1	1863	1	HCN4	15	73617514	Missense_Mutation	SNP	C	TCGA-KL-8335-01A-11D-2310-10	6122357	73617514	28913878	74	39226											
A2BP1	54715	hgsc.bcm.edu;ucsc.edu	37	16	7383011	7383011	+	Intron	SNP	G	G	A			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr16:7383011G>A	ENST00000550418.1	+	5	1015				RBFOX1_ENST00000547338.1_Intron|RBFOX1_ENST00000340209.4_5'UTR|RBFOX1_ENST00000436368.2_Silent_p.A3A|RBFOX1_ENST00000547372.1_Intron|RBFOX1_ENST00000355637.4_Silent_p.A3A|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000553186.1_Intron|RBFOX1_ENST00000422070.4_Intron|RBFOX1_ENST00000552089.1_Intron|RBFOX1_ENST00000311745.5_Silent_p.A3A	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1						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						GCATGCTGGCGTCTCAAGGAG	0.478																																					Ovarian(157;934 2567 15163 39509)											0													231	186	201					16																	7383011		2197	4300	6497	SO:0001627	intron_variant	54715			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.28-185138G>A	16.37:g.7383011G>A			Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Silent	SNP	ENST00000550418.1	37	CCDS55983.1																																																																																				0.478	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891		A	7383011	G	A	7383011	1	1	704	0	1	0	0	0	0	0	0	0	3	1132	40	1		1	A2BP1	16	7383011	Intron	SNP	G	TCGA-KL-8335-01A-11D-2310-10		7383011	82971742	75	39227											
RPGRIP1L	23322	broad.mit.edu;mdanderson.org	37	16	53644927	53644927	+	Missense_Mutation	SNP	C	C	G			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr16:53644927C>G	ENST00000379925.3	-	25	3703	c.3653G>C	c.(3652-3654)aGa>aCa	p.R1218T	RPGRIP1L_ENST00000262135.4_Missense_Mutation_p.R1138T|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.R1184T|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.R1172T	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	1218					camera-type eye development (GO:0043010)|cerebellum development (GO:0021549)|cilium assembly (GO:0042384)|corpus callosum development (GO:0022038)|determination of left/right symmetry (GO:0007368)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment or maintenance of cell polarity (GO:0007163)|head development (GO:0060322)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lateral ventricle development (GO:0021670)|liver development (GO:0001889)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neural tube patterning (GO:0021532)|nose development (GO:0043584)|olfactory bulb development (GO:0021772)|pericardium development (GO:0060039)|regulation of smoothened signaling pathway (GO:0008589)	axoneme (GO:0005930)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	thromboxane A2 receptor binding (GO:0031870)			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				TAAGATGTCTCTCTTTGCTTT	0.333																																																0													233	205	215					16																	53644927		2198	4300	6498	SO:0001583	missense	23322				CCDS32447.1, CCDS45486.1	16q12.2	2014-09-17				ENSG00000103494			29168	protein-coding gene	gene with protein product	"fantom homolog", "Meckel syndrome, type 5", "protein phosphatase 1, regulatory subunit 134"	610937				10231032	Standard	NM_015272		Approved	KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134	uc002ehp.3	Q68CZ1		ENST00000379925.3:c.3653G>C	16.37:g.53644927C>G	ENSP00000369257:p.Arg1218Thr		A0PJ88|Q9Y2K8	Missense_Mutation	SNP	ENST00000379925.3	37	CCDS32447.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.998717	0.74818	.	.	ENSG00000103494	ENST00000379925;ENST00000262135	T;D	0.84146	-1.45;-1.81	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.92420	0.7594	M	0.73598	2.24	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;0.994	D	0.92975	0.6401	10	0.87932	D	0	-16.644	19.2677	0.93996	0.0:1.0:0.0:0.0	.	1172;1172;1218;1138	B4E3M8;B7ZKJ9;Q68CZ1;Q68CZ1-2	.;.;FTM_HUMAN;.	T	1218;1138	ENSP00000369257:R1218T;ENSP00000262135:R1138T	ENSP00000262135:R1138T	R	-	2	0	RPGRIP1L	52202428	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.264000	0.58859	2.617000	0.88574	0.655000	0.94253	AGA		0.333	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422187.1	NM_015272		G	53644927	C	G	53644927	3	3	704	1	0	0	0	0	1	0	0	0	13556	913	32	4	306	4	RPGRIP1L	16	53644927	Missense_Mutation	SNP	C	TCGA-KL-8335-01A-11D-2310-10	46261916	53644927	36709826	76	39228											
MBTPS1	8720	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	16	84132706	84132706	+	Missense_Mutation	SNP	G	G	A	rs150244031		TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr16:84132706G>A	ENST00000343411.3	-	3	868	c.373C>T	c.(373-375)Cgg>Tgg	p.R125W		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	125					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						GGCGTGACCCGTTTGATGTTT	0.418													G|||	1	0.000199681	0.0	0.0	5008	,	,		17262	0.001		0.0	False		,,,				2504	0.0															0													204	187	193					16																	84132706		2200	4300	6500	SO:0001583	missense	8720			D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"membrane-bound transcription factor protease, site 1"			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.373C>T	16.37:g.84132706G>A	ENSP00000344223:p.Arg125Trp		A8K6V8|Q24JQ2|Q9UF67	Missense_Mutation	SNP	ENST00000343411.3	37	CCDS10941.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	23.1	4.380802	0.82792	.	.	ENSG00000140943	ENST00000343411	T	0.42131	0.98	5.61	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.54382	0.1855	M	0.66939	2.045	0.58432	D	0.999997	D	0.76494	0.999	P	0.53809	0.735	T	0.59904	-0.7366	10	0.72032	D	0.01	-26.0657	15.3007	0.73949	0.0:0.0:0.8594:0.1406	.	125	Q14703	MBTP1_HUMAN	W	125	ENSP00000344223:R125W	ENSP00000344223:R125W	R	-	1	2	MBTPS1	82690207	1.000000	0.71417	0.948000	0.38648	0.975000	0.68041	3.038000	0.49783	2.648000	0.89879	0.650000	0.86243	CGG		0.418	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	NM_003791		A	84132706	G	A	84132706	3	1	704	1	0	0	0	0	1	0	0	0	9363	1144	40	1	2869	1	MBTPS1	16	84132706	Missense_Mutation	SNP	G	TCGA-KL-8335-01A-11D-2310-10	30487779	84132706	6222047	77	39229											
SLC13A5	284111	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	17	6606363	6606363	+	Nonsense_Mutation	SNP	G	G	T	rs148755614	byFrequency	TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr17:6606363G>T	ENST00000433363.2	-	5	875	c.642C>A	c.(640-642)taC>taA	p.Y214*	SLC13A5_ENST00000293800.6_Nonsense_Mutation_p.Y197*|SLC13A5_ENST00000381074.4_Nonsense_Mutation_p.Y171*|SLC13A5_ENST00000573648.1_Nonsense_Mutation_p.Y214*	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	214					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						TGCTGGCCGCGTAGCAGATGC	0.622																																																0													146	118	127					17																	6606363		2203	4300	6503	SO:0001587	stop_gained	284111			AJ489980	CCDS11079.1, CCDS45593.1, CCDS67136.1, CCDS67137.1	17p13.1	2013-05-22			ENSG00000141485	ENSG00000141485		"Solute carriers"	23089	protein-coding gene	gene with protein product		608305				12445824	Standard	NM_001284510		Approved	NACT	uc002gdj.3	Q86YT5	OTTHUMG00000102052	ENST00000433363.2:c.642C>A	17.37:g.6606363G>T	ENSP00000406220:p.Tyr214*		B3KXR0|B7Z4P2|B7ZLB4|F8W7N2|Q6ZMG1	Nonsense_Mutation	SNP	ENST00000433363.2	37	CCDS11079.1	.	.	.	.	.	.	.	.	.	.	G	8.165	0.790370	0.16258	.	.	ENSG00000141485	ENST00000293800;ENST00000433363;ENST00000381074	.	.	.	5.47	-10.9	0.00192	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.9377	0.86207	0.4812:0.0:0.5188:0.0	.	.	.	.	X	214;214;171	.	ENSP00000293800:Y214X	Y	-	3	2	SLC13A5	6547087	0.005000	0.15991	0.049000	0.19019	0.093000	0.18481	-1.261000	0.02855	-2.109000	0.00838	-1.421000	0.01109	TAC		0.622	SLC13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219853.2	NM_177550		T	6606363	G	T	6606363	4	4	704	1	0	0	0	0	0	1	0	0	14401	1140	40	4	1096	4	SLC13A5	17	6606363	Nonsense_Mutation	SNP	G	TCGA-KL-8335-01A-11D-2310-10		6606363	74588847	78	39230											
AMAC1L3	643664	mdanderson.org	37	17	7385436	7385436	+	Missense_Mutation	SNP	C	C	A	rs199848902	byFrequency	TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr17:7385436C>A	ENST00000412468.2	+	2	248	c.133C>A	c.(133-135)Ctg>Atg	p.L45M	POLR2A_ENST00000322644.6_5'Flank|ZBTB4_ENST00000311403.4_Intron|ZBTB4_ENST00000380599.4_5'Flank|POLR2A_ENST00000572844.1_5'Flank	NM_001102614.1	NP_001096084.1	P0C7Q6	S35G6_HUMAN	solute carrier family 35, member G6	45						integral component of membrane (GO:0016021)											GGTGGCCCTGCTGGGTGGGGG	0.662																																																0													39	46	44					17																	7385436		2203	4298	6501	SO:0001583	missense	643664				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.133C>A	17.37:g.7385436C>A	ENSP00000396523:p.Leu45Met			Missense_Mutation	SNP	ENST00000412468.2	37	CCDS45603.1	.	.	.	.	.	.	.	.	.	.	c	0.220	-1.029059	0.02045	.	.	ENSG00000181222	ENST00000412468	T	0.35421	1.31	4.21	0.736	0.18307	.	.	.	.	.	T	0.22859	0.0552	N	0.24115	0.695	0.26348	N	0.977258	B	0.18013	0.025	B	0.21360	0.034	T	0.21690	-1.0238	9	0.41790	T	0.15	-3.4659	7.3485	0.26676	0.0:0.4871:0.3423:0.1706	.	45	P0C7Q6	S35G6_HUMAN	M	45	ENSP00000396523:L45M	ENSP00000396523:L45M	L	+	1	2	SLC35G6	7326160	0.999000	0.42202	0.999000	0.59377	0.019000	0.09904	0.383000	0.20651	0.055000	0.16094	-2.899000	0.00093	CTG		0.662	SLC35G6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001102614		A	7385436	C	A	7385436	3	1	704	1	0	0	0	0	1	0	0	0	561	796	28	4	139	4	AMAC1L3	17	7385436	Missense_Mutation	SNP	C	TCGA-KL-8335-01A-11D-2310-10	779073	7385436	73809774	79	39231											
TP53	7157	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	17	7577018	7577018	+	Splice_Site	SNP	C	C	T			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr17:7577018C>T	ENST00000269305.4	-	8	1109		c.e8+1		TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_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.?(28)|p.0?(8)|p.A307fs*34(1)|p.L308fs*31(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(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)	TGCTTGCTTACCTCGCTTAGT	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)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	38	Unknown(28)|Whole gene deletion(8)|Deletion - Frameshift(2)	lung(7)|breast(7)|bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(3)|large_intestine(2)|stomach(2)|haematopoietic_and_lymphoid_tissue(2)|ovary(2)|biliary_tract(1)|endometrium(1)|urinary_tract(1)|skin(1)|oesophagus(1)|prostate(1)	GRCh37	CD920913	TP53	D							127	112	117					17																	7577018		2203	4300	6503	SO:0001630	splice_region_variant	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.919+1G>A	17.37:g.7577018C>T			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	9.710	1.156918	0.21454	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	4.81	3.84	0.44239	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.038	0.36300	0.0:0.9:0.0:0.1	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7517743	1.000000	0.71417	0.939000	0.37840	0.223000	0.24884	4.456000	0.60081	1.259000	0.44117	0.561000	0.74099	.		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	T	7577018	C	T	7577018	5	4	704	1	0	0	0	0	0	0	1	0	16386	521	18	2	366	2	TP53	17	7577018	Splice_Site	SNP	C	TCGA-KL-8335-01A-11D-2310-10	191582	7577018	73618192	80	39232											
SGSH	6448	broad.mit.edu	37	17	78190941	78190941	+	Missense_Mutation	SNP	T	T	G			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr17:78190941T>G	ENST00000326317.6	-	2	225	c.139A>C	c.(139-141)Acc>Ccc	p.T47P	SGSH_ENST00000572208.1_5'UTR|SGSH_ENST00000570923.1_Silent_p.P58P|SGSH_ENST00000534910.1_5'UTR	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase	47					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)			AGGTGCGGGGTGGCGATGGCG	0.662																																																0													44	48	47					17																	78190941		2198	4293	6491	SO:0001583	missense	6448			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.139A>C	17.37:g.78190941T>G	ENSP00000314606:p.Thr47Pro		A8K5E2	Missense_Mutation	SNP	ENST00000326317.6	37	CCDS11770.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.559069	0.86335	.	.	ENSG00000181523	ENST00000326317	D	0.98362	-4.89	4.42	4.42	0.53409	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.115205	0.64402	D	0.000020	D	0.99137	0.9702	M	0.93241	3.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.99301	1.0901	10	0.87932	D	0	-30.697	13.6498	0.62304	0.0:0.0:0.0:1.0	.	47;50	P51688;Q59EB1	SPHM_HUMAN;.	P	47	ENSP00000314606:T47P	ENSP00000314606:T47P	T	-	1	0	SGSH	75805536	1.000000	0.71417	0.604000	0.28916	0.979000	0.70002	7.404000	0.79996	1.609000	0.50190	0.528000	0.53228	ACC		0.662	SGSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437695.1	NM_000199		G	78190941	T	G	78190941	3	3	704	1	0	0	0	0	1	0	0	0	14227	1696	59	5	1397	5	SGSH	17	78190941	Missense_Mutation	SNP	T	TCGA-KL-8335-01A-11D-2310-10	70613923	78190941	3004269	81	39233											
CEP192	55125	broad.mit.edu	37	18	13049583	13049583	+	Silent	SNP	A	A	G			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr18:13049583A>G	ENST00000325971.8	+	14	2598	c.1005A>G	c.(1003-1005)agA>agG	p.R335R	CEP192_ENST00000506447.1_Silent_p.R931R|CEP192_ENST00000430049.2_Silent_p.R456R			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	335					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						GAGATAACAGAGAAAATCAGA	0.383																																																0													112	116	115					18																	13049583		2202	4298	6500	SO:0001819	synonymous_variant	55125			AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25515	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 62"					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.1005A>G	18.37:g.13049583A>G			A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Silent	SNP	ENST00000325971.8	37																																																																																					0.383	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		G	13049583	A	G	13049583	2	3	704	1	0	0	0	0	0	0	0	1	3253	301	11	3		3	CEP192	18	13049583	Silent	SNP	A	TCGA-KL-8335-01A-11D-2310-10		13049583	65027665	82	39234											
ZNF208	7757	mdanderson.org	37	19	22155783	22155783	+	Missense_Mutation	SNP	C	C	T	rs199604702		TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr19:22155783C>T	ENST00000397126.4	-	4	2201	c.2053G>A	c.(2053-2055)Gta>Ata	p.V685I	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	685					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)				GTATGAATTACCTTATGTTTA	0.383																																																0													37	38	37					19																	22155783		1986	4182	6168	SO:0001583	missense	7757			BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"Zinc fingers, C2H2-type", "-"	12999	protein-coding gene	gene with protein product	"zinc finger protein 95"	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2053G>A	19.37:g.22155783C>T	ENSP00000380315:p.Val685Ile			Missense_Mutation	SNP	ENST00000397126.4	37	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	C	4.480	0.089023	0.08583	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.17054	2.3	2.43	-4.86	0.03132	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11024	0.0269	.	.	.	0.09310	N	1	B	0.25441	0.126	B	0.24701	0.055	T	0.29852	-0.9998	8	0.42905	T	0.14	.	9.3378	0.38060	0.0:0.3337:0.0:0.6663	.	585	O43345	ZN208_HUMAN	I	685;585	ENSP00000380315:V685I	ENSP00000380315:V685I	V	-	1	0	ZNF208	21947623	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-6.732000	0.00055	-1.081000	0.03105	-1.169000	0.01745	GTA		0.383	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		T	22155783	C	T	22155783	3	4	704	1	0	0	0	0	1	0	0	0	17771	507	18	2	1793	2	ZNF208	19	22155783	Missense_Mutation	SNP	C	TCGA-KL-8335-01A-11D-2310-10		22155783	36973200	83	39235											
TSHZ3	57616	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	31770165	31770165	+	Missense_Mutation	SNP	C	C	A			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr19:31770165C>A	ENST00000240587.4	-	2	861	c.534G>T	c.(532-534)caG>caT	p.Q178H		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	178					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)					TCTGTGACACCTGCTGCAGCG	0.637																																																0													40	40	40					19																	31770165		2203	4300	6503	SO:0001583	missense	57616			AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	30700	protein-coding gene	gene with protein product	"teashirt 3"	614119	"zinc finger protein 537", "teashirt family zinc finger 3"	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.534G>T	19.37:g.31770165C>A	ENSP00000240587:p.Gln178His		Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	C	12.57	1.978299	0.34942	.	.	ENSG00000121297	ENST00000240587	T	0.14640	2.49	5.44	1.8	0.24995	.	0.076230	0.53938	N	0.000059	T	0.10809	0.0264	L	0.42245	1.32	0.46185	D	0.998919	P	0.44578	0.838	B	0.42422	0.387	T	0.09357	-1.0678	10	0.62326	D	0.03	-12.9685	2.8247	0.05482	0.0:0.3714:0.237:0.3916	.	178	Q63HK5	TSH3_HUMAN	H	178	ENSP00000240587:Q178H	ENSP00000240587:Q178H	Q	-	3	2	TSHZ3	36462005	0.993000	0.37304	1.000000	0.80357	0.997000	0.91878	0.314000	0.19432	0.639000	0.30564	0.655000	0.94253	CAG		0.637	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		A	31770165	C	A	31770165	3	1	704	1	0	0	0	0	1	0	0	0	16630	680	24	4	2715	4	TSHZ3	19	31770165	Missense_Mutation	SNP	C	TCGA-KL-8335-01A-11D-2310-10	9614382	31770165	27358818	84	39236											
LRP3	4037	mdanderson.org	37	19	33697546	33697546	+	Silent	SNP	C	C	T	rs1056041	byFrequency	TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr19:33697546C>T	ENST00000253193.7	+	6	1834	c.1632C>T	c.(1630-1632)ttC>ttT	p.F544F	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	544					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)					AGGCTGAGTTCGTGCGGCGGG	0.652													C|||	253	0.0505192	0.0098	0.0764	5008	,	,		15119	0.121		0.0447	False		,,,				2504	0.0204															0								C		101,4305	79.9+/-118.3	0,101,2102	90	86	87		1632	1	1	19	dbSNP_86	87	462,8138	137.5+/-194.4	15,432,3853	no	coding-synonymous	LRP3	NM_002333.3		15,533,5955	TT,TC,CC		5.3721,2.2923,4.3288		544/771	33697546	563,12443	2203	4300	6503	SO:0001819	synonymous_variant	4037			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.1632C>T	19.37:g.33697546C>T			B3KQD6|B4DKF2	Silent	SNP	ENST00000253193.7	37	CCDS12430.1																																																																																				0.652	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450842.4			T	33697546	C	T	33697546	2	4	704	1	0	0	0	0	0	0	0	1	8960	883	31	1		1	LRP3	19	33697546	Silent	SNP	C	TCGA-KL-8335-01A-11D-2310-10	1927381	33697546	25431437	85	39237											
NPHS1	4868	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	36342723	36342723	+	Missense_Mutation	SNP	G	G	A	rs150180768		TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr19:36342723G>A	ENST00000378910.5	-	1	16	c.17C>T	c.(16-18)aCg>aTg	p.T6M	NPHS1_ENST00000353632.6_Missense_Mutation_p.T6M|NPHS1_ENST00000591817.1_Intron	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	6					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)			AGCCCTGAGCGTCGTCCCCAG	0.637													g|||	1	0.000199681	0.0	0.0014	5008	,	,		13427	0.0		0.0	False		,,,				2504	0.0															0								A	MET/THR	1,4273		0,1,2136	52	41	45		17	-9.1	0	19	dbSNP_134	45	0,8332		0,0,4166	no	missense	NPHS1	NM_004646.3	81	0,1,6302	AA,AG,GG		0.0,0.0234,0.0079	benign	6/1242	36342723	1,12605	2137	4166	6303	SO:0001583	missense	4868				CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.17C>T	19.37:g.36342723G>A	ENSP00000368190:p.Thr6Met		A6NDH2|C3RX61	Missense_Mutation	SNP	ENST00000378910.5	37	CCDS32996.1	.	.	.	.	.	.	.	.	.	.	g	8.225	0.803396	0.16397	2.34E-4	0.0	ENSG00000161270	ENST00000378910;ENST00000353632	T;T	0.73469	-0.73;-0.75	4.55	-9.11	0.00711	.	2.209620	0.01832	N	0.034790	T	0.38612	0.1047	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.49995	-0.8879	10	0.02654	T	1	0.0983	2.0626	0.03596	0.4264:0.0955:0.2857:0.1924	.	6	O60500	NPHN_HUMAN	M	6	ENSP00000368190:T6M;ENSP00000343634:T6M	ENSP00000343634:T6M	T	-	2	0	NPHS1	41034563	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.640000	0.02009	-2.213000	0.00735	-2.211000	0.00300	ACG		0.637	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1			A	36342723	G	A	36342723	3	1	704	1	0	0	0	0	1	0	0	0	10584	1145	40	1	3824	1	NPHS1	19	36342723	Missense_Mutation	SNP	G	TCGA-KL-8335-01A-11D-2310-10	2645177	36342723	22786260	86	39238											
ZFP82	284406	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	19	36884930	36884930	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr19:36884930C>T	ENST00000392161.3	-	5	554	c.312G>A	c.(310-312)atG>atA	p.M104I	ZFP82_ENST00000392171.1_Missense_Mutation_p.M104I	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	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)|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						CAATTCTTTCCATTATCTTCC	0.328																																																0													74	80	78					19																	36884930		2203	4299	6502	SO:0001583	missense	284406			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.312G>A	19.37:g.36884930C>T	ENSP00000431265:p.Met104Ile		Q8NC63|Q8TF53	Missense_Mutation	SNP	ENST00000392161.3	37	CCDS12493.1	.	.	.	.	.	.	.	.	.	.	C	7.193	0.591840	0.13812	.	.	ENSG00000181007	ENST00000392161;ENST00000392171	T;T	0.07021	3.31;3.23	4.58	4.58	0.56647	.	0.000000	0.46442	D	0.000300	T	0.06826	0.0174	N	0.17278	0.47	0.29209	N	0.874688	B	0.14012	0.009	B	0.15484	0.013	T	0.13415	-1.0510	10	0.33940	T	0.23	.	16.6902	0.85319	0.0:1.0:0.0:0.0	.	104	Q8N141	ZFP82_HUMAN	I	104	ENSP00000431265:M104I;ENSP00000446080:M104I	ENSP00000431265:M104I	M	-	3	0	ZFP82	41576770	0.283000	0.24277	1.000000	0.80357	0.744000	0.42396	1.150000	0.31639	2.548000	0.85928	0.650000	0.86243	ATG		0.328	ZFP82-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109552.2	NM_133466		T	36884930	C	T	36884930	3	4	704	1	0	0	0	0	1	0	0	0	17658	594	21	2	1290	2	ZFP82	19	36884930	Missense_Mutation	SNP	C	TCGA-KL-8335-01A-11D-2310-10	542207	36884930	22244053	87	39239											
ZNF260	339324	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	19	37006030	37006030	+	Silent	SNP	G	G	A			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr19:37006030G>A	ENST00000523638.1	-	3	1232	c.111C>T	c.(109-111)agC>agT	p.S37S	ZNF260_ENST00000588993.1_Silent_p.S37S|ZNF260_ENST00000592282.1_Silent_p.S37S|ZNF260_ENST00000593142.1_Silent_p.S37S	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	37					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)					TTTGCTTCAGGCTAAAAGTTT	0.373																																																0													104	103	104					19																	37006030		2203	4300	6503	SO:0001819	synonymous_variant	339324			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.111C>T	19.37:g.37006030G>A			Q0VF43	Silent	SNP	ENST00000523638.1	37	CCDS33003.1																																																																																				0.373	ZNF260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109564.2	NM_001012756		A	37006030	G	A	37006030	2	1	704	1	0	0	0	0	0	0	0	1	17807	1194	42	2		2	ZNF260	19	37006030	Silent	SNP	G	TCGA-KL-8335-01A-11D-2310-10	121100	37006030	22122953	88	39240											
LTBP4	8425	bcgsc.ca	37	19	41112172	41112172	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr19:41112172C>T	ENST00000308370.7	+	8	1028	c.1028C>T	c.(1027-1029)cCt>cTt	p.P343L	LTBP4_ENST00000204005.9_Missense_Mutation_p.P306L|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000396819.3_Missense_Mutation_p.P276L|RN7SL758P_ENST00000580450.1_RNA|LTBP4_ENST00000545697.1_5'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	343					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)			CCAGATGGACCTTGTCCAACC	0.622																																																0													21	23	22					19																	41112172		1914	4122	6036	SO:0001583	missense	8425			Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"Latent transforming growth factor, beta binding proteins"	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.1028C>T	19.37:g.41112172C>T	ENSP00000311905:p.Pro343Leu		O00508|O75412|O75413	Missense_Mutation	SNP	ENST00000308370.7	37		.	.	.	.	.	.	.	.	.	.	C	12.15	1.852756	0.32699	.	.	ENSG00000090006	ENST00000204005;ENST00000308370;ENST00000396819	D;D;D	0.90788	-2.73;-2.73;-2.73	3.95	2.88	0.33553	Matrix fibril-associated (2);	0.488989	0.15274	N	0.271066	T	0.82235	0.4993	N	0.22421	0.69	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.73411	-0.3991	10	0.27785	T	0.31	.	9.6525	0.39906	0.0:0.8921:0.0:0.1079	.	276;343;306	E7EUU1;Q8N2S1;E7ENG9	.;LTBP4_HUMAN;.	L	306;343;276	ENSP00000204005:P306L;ENSP00000311905:P343L;ENSP00000380031:P276L	ENSP00000204005:P306L	P	+	2	0	LTBP4	45804012	0.970000	0.33590	0.989000	0.46669	0.504000	0.33889	1.970000	0.40520	0.840000	0.34995	0.305000	0.20034	CCT		0.622	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003573		T	41112172	C	T	41112172	3	4	704	1	0	0	0	0	1	0	0	0	9078	681	24	2	1351	2	LTBP4	19	41112172	Missense_Mutation	SNP	C	TCGA-KL-8335-01A-11D-2310-10	4106142	41112172	18016811	89	39241											
CYP2A7	1549	broad.mit.edu;mdanderson.org	37	19	41384783	41384783	+	Missense_Mutation	SNP	A	A	T			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr19:41384783A>T	ENST00000301146.4	-	5	1254	c.713T>A	c.(712-714)tTt>tAt	p.F238Y	CYP2A7_ENST00000291764.3_Missense_Mutation_p.F187Y|CTC-490E21.12_ENST00000601627.1_Intron	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	238						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)			CAGCAACTTAAAGGCCTGTTG	0.542																																																0													106	85	92					19																	41384783		2203	4298	6501	SO:0001583	missense	1549			NM_000764	CCDS12569.1, CCDS42570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000198077	ENSG00000198077		"Cytochrome P450s"	2611	protein-coding gene	gene with protein product		608054	"cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7"			7668294, 15128046	Standard	NM_030589		Approved	CYP2A	uc002opm.3	P20853	OTTHUMG00000182715	ENST00000301146.4:c.713T>A	19.37:g.41384783A>T	ENSP00000301146:p.Phe238Tyr		Q13121	Missense_Mutation	SNP	ENST00000301146.4	37	CCDS12569.1	.	.	.	.	.	.	.	.	.	.	A	3.487	-0.104571	0.06967	.	.	ENSG00000198077	ENST00000301146;ENST00000291764	T;T	0.68903	-0.36;-0.36	2.18	1.04	0.20106	.	0.000000	0.85682	D	0.000000	T	0.54822	0.1882	L	0.43757	1.38	0.09310	N	1	B;B;B	0.18863	0.004;0.002;0.031	B;B;B	0.33042	0.018;0.008;0.157	T	0.43081	-0.9413	10	0.25106	T	0.35	.	5.7992	0.18403	0.5777:0.0:0.0:0.4223	.	238;187;238	B7ZKR0;F8W816;P20853	.;.;CP2A7_HUMAN	Y	238;187	ENSP00000301146:F238Y;ENSP00000291764:F187Y	ENSP00000291764:F187Y	F	-	2	0	CYP2A7	46076623	0.000000	0.05858	0.001000	0.08648	0.097000	0.18754	0.133000	0.15912	0.072000	0.16694	0.155000	0.16302	TTT		0.542	CYP2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463269.2	NM_030589		T	41384783	A	T	41384783	3	4	704	1	0	0	0	0	1	0	0	0	4165	14	1	5	791	5	CYP2A7	19	41384783	Missense_Mutation	SNP	A	TCGA-KL-8335-01A-11D-2310-10	272611	41384783	17744200	90	39242											
CYP2F1	1572	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	19	41628786	41628786	+	Missense_Mutation	SNP	C	C	A			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr19:41628786C>A	ENST00000331105.2	+	7	954	c.882C>A	c.(880-882)aaC>aaA	p.N294K		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	294					naphthalene metabolic process (GO:0018931)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|trichloroethylene metabolic process (GO:0018979)|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, 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)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						CCACACATAACCTGCTCTTTG	0.572																																																0													244	174	198					19																	41628786		2203	4300	6503	SO:0001583	missense	1572			J02906	CCDS12572.1	19q13.1-q13.2	2008-02-05	2003-01-14		ENSG00000197446	ENSG00000197446		"Cytochrome P450s"	2632	protein-coding gene	gene with protein product		124070	"cytochrome P450, subfamily IIF, polypeptide 1"	CYP2F			Standard	NM_000774		Approved		uc002opu.1	P24903	OTTHUMG00000167412	ENST00000331105.2:c.882C>A	19.37:g.41628786C>A	ENSP00000333534:p.Asn294Lys		A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Missense_Mutation	SNP	ENST00000331105.2	37	CCDS12572.1	.	.	.	.	.	.	.	.	.	.	c	12.73	2.024986	0.35701	.	.	ENSG00000197446	ENST00000331105	T	0.68479	-0.33	2.85	1.79	0.24919	.	0.175028	0.47093	U	0.000243	T	0.77631	0.4159	M	0.76838	2.35	0.36093	D	0.843621	D;D;D	0.89917	1.0;1.0;0.988	D;D;P	0.78314	0.991;0.983;0.724	T	0.79836	-0.1635	10	0.87932	D	0	.	7.3987	0.26952	0.0:0.859:0.0:0.141	.	80;294;294	B4DL83;Q32MN5;P24903	.;.;CP2F1_HUMAN	K	294	ENSP00000333534:N294K	ENSP00000333534:N294K	N	+	3	2	CYP2F1	46320626	0.228000	0.23718	0.786000	0.31890	0.139000	0.21198	0.433000	0.21477	0.414000	0.25790	0.398000	0.26397	AAC		0.572	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394527.2			A	41628786	C	A	41628786	3	1	704	1	0	0	0	0	1	0	0	0	4173	506	18	4	904	4	CYP2F1	19	41628786	Missense_Mutation	SNP	C	TCGA-KL-8335-01A-11D-2310-10	244003	41628786	17500197	91	39243											
NLRP4	147945	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	19	56373450	56373450	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr19:56373450C>T	ENST00000301295.6	+	5	2533	c.2111C>T	c.(2110-2112)aCg>aTg	p.T704M	NLRP4_ENST00000346986.5_Missense_Mutation_p.T704M|NLRP4_ENST00000587891.1_Missense_Mutation_p.T629M	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	704					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)		TTCACCCTCACGAAACTCTCT	0.463																																																0													147	134	138					19																	56373450		2203	4300	6503	SO:0001583	missense	147945			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.2111C>T	19.37:g.56373450C>T	ENSP00000301295:p.Thr704Met		Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.909368	0.33721	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	T;T	0.54279	0.58;0.58	3.26	-3.02	0.05446	.	.	.	.	.	T	0.60379	0.2264	M	0.69523	2.12	0.09310	N	1	D;D;D	0.71674	0.992;0.998;0.998	P;D;P	0.62955	0.843;0.909;0.814	T	0.52771	-0.8531	9	0.54805	T	0.06	.	4.1785	0.10363	0.0:0.3701:0.1775:0.4525	.	704;629;704	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	M	704	ENSP00000301295:T704M;ENSP00000344787:T704M	ENSP00000301295:T704M	T	+	2	0	NLRP4	61065262	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.150000	0.16263	-0.499000	0.06623	-0.253000	0.11424	ACG		0.463	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		T	56373450	C	T	56373450	3	4	704	1	0	0	0	0	1	0	0	0	10481	536	19	1	2125	1	NLRP4	19	56373450	Missense_Mutation	SNP	C	TCGA-KL-8335-01A-11D-2310-10	14744664	56373450	2755533	92	39244											
ZNF773	374928	mdanderson.org	37	19	58016677	58016677	+	Silent	SNP	A	A	G	rs199730365		TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr19:58016677A>G	ENST00000282292.4	+	3	311	c.171A>G	c.(169-171)gcA>gcG	p.A57A	ZNF773_ENST00000599847.1_Silent_p.A57A|AC003005.4_ENST00000601674.1_3'UTR|ZNF773_ENST00000598770.1_Silent_p.A56A|ZNF773_ENST00000593916.1_Silent_p.A56A	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	57	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(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)		TAGGACTTGCATCTTCCAAGA	0.468																																																0													77	75	76					19																	58016677		2202	4281	6483	SO:0001819	synonymous_variant	374928			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.171A>G	19.37:g.58016677A>G			Q96DL8	Silent	SNP	ENST00000282292.4	37	CCDS33134.1																																																																																				0.468	ZNF773-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466475.1	NM_198542		G	58016677	A	G	58016677	2	3	704	1	0	0	0	0	0	0	0	1	18151	204	8	3		3	ZNF773	19	58016677	Silent	SNP	A	TCGA-KL-8335-01A-11D-2310-10	1643227	58016677	1112306	93	39245											
KCNS1	3787	ucsc.edu	37	20	43726792	43726792	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr20:43726792C>T	ENST00000306117.1	-	4	1017	c.621G>A	c.(619-621)tgG>tgA	p.W207*	KCNS1_ENST00000537075.1_Nonsense_Mutation_p.W207*	NM_002251.3	NP_002242.2	Q96KK3	KCNS1_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1	207					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)			endometrium(1)|lung(3)|ovary(1)|stomach(1)	6		Myeloproliferative disorder(115;0.0122)				CCATGGTCAGCCAGAGGCGGC	0.692																																																0													7	9	8					20																	43726792		1923	3859	5782	SO:0001587	stop_gained	3787			AF043473	CCDS13342.1	20q12	2011-07-05			ENSG00000124134	ENSG00000124134		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6300	protein-coding gene	gene with protein product		602905				9305895, 16382104	Standard	NM_002251		Approved	Kv9.1	uc002xnc.3	Q96KK3	OTTHUMG00000033079	ENST00000306117.1:c.621G>A	20.37:g.43726792C>T	ENSP00000307694:p.Trp207*		A2RUL9|B7ZM31|O43652|Q6DJU6	Nonsense_Mutation	SNP	ENST00000306117.1	37	CCDS13342.1	.	.	.	.	.	.	.	.	.	.	C	38	6.849962	0.97885	.	.	ENSG00000124134	ENST00000306117;ENST00000537075	.	.	.	4.7	3.73	0.42828	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.0704	0.59057	0.0:0.9207:0.0:0.0793	.	.	.	.	X	207	.	ENSP00000307694:W207X	W	-	3	0	KCNS1	43160206	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.739000	0.62080	0.946000	0.37632	0.555000	0.69702	TGG		0.692	KCNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080507.3	NM_002251		T	43726792	C	T	43726792	4	4	704	1	0	0	0	0	0	1	0	0	8090	740	26	2	967	2	KCNS1	20	43726792	Nonsense_Mutation	SNP	C	TCGA-KL-8335-01A-11D-2310-10		43726792	19298728	94	39246											
SLC13A3	64849	bcgsc.ca	37	20	45212262	45212262	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr20:45212262A>G	ENST00000279027.4	-	9	1186	c.1168T>C	c.(1168-1170)Ttc>Ctc	p.F390L	SLC13A3_ENST00000396360.1_Missense_Mutation_p.F308L|SLC13A3_ENST00000290317.5_Missense_Mutation_p.F343L|SLC13A3_ENST00000464518.1_5'UTR|SLC13A3_ENST00000435032.1_Silent_p.C12C|SLC13A3_ENST00000495082.1_Missense_Mutation_p.F343L|SLC13A3_ENST00000413164.2_Missense_Mutation_p.F340L|SLC13A3_ENST00000472148.1_Missense_Mutation_p.F308L	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	390					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)	GGGAAGAAGAACAAGATGGTG	0.562																																																0													133	112	119					20																	45212262		2203	4300	6503	SO:0001583	missense	64849			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.1168T>C	20.37:g.45212262A>G	ENSP00000279027:p.Phe390Leu		B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	Missense_Mutation	SNP	ENST00000279027.4	37	CCDS13400.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	28.7|28.7	4.939668|4.939668	0.92526|0.92526	.|.	.|.	ENSG00000158296|ENSG00000158296	ENST00000290317;ENST00000396360;ENST00000279027;ENST00000472148;ENST00000413164;ENST00000495082;ENST00000468915|ENST00000450298	T;T;T;T;T;T;T|.	0.02103|.	4.45;4.6;4.45;4.6;4.45;4.45;4.45|.	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.79452|0.79452	0.4448|0.4448	M|M	0.85945|0.85945	2.785|2.785	0.80722|0.80722	D|D	1|1	P;D;P;D|.	0.59357|.	0.903;0.981;0.473;0.985|.	B;P;B;P|.	0.60286|.	0.393;0.797;0.27;0.872|.	T|T	0.81929|0.81929	-0.0708|-0.0708	10|5	0.87932|.	D|.	0|.	-36.4623|-36.4623	16.0152|16.0152	0.80434|0.80434	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	340;308;343;390|.	B4DIR8;Q8WWT9-3;F6WI18;Q8WWT9|.	.;.;.;S13A3_HUMAN|.	L|A	343;308;390;308;340;343;343|219	ENSP00000290317:F343L;ENSP00000379648:F308L;ENSP00000279027:F390L;ENSP00000420177:F308L;ENSP00000415852:F340L;ENSP00000419621:F343L;ENSP00000417784:F343L|.	ENSP00000279027:F390L|.	F|V	-|-	1|2	0|0	SLC13A3|SLC13A3	44645669|44645669	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	8.182000|8.182000	0.89698|0.89698	2.180000|2.180000	0.69256|0.69256	0.533000|0.533000	0.62120|0.62120	TTC|GTT		0.562	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080329.2			G	45212262	A	G	45212262	3	3	704	1	0	0	0	0	1	0	0	0	14399	43	2	3	660	3	SLC13A3	20	45212262	Missense_Mutation	SNP	A	TCGA-KL-8335-01A-11D-2310-10	1485470	45212262	17813258	95	39247											
ZNF831	128611	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	20	57767954	57767954	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr20:57767954C>T	ENST00000371030.2	+	1	1880	c.1880C>T	c.(1879-1881)aCg>aTg	p.T627M		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	627							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)					GGGGATGAGACGTTCAAAAGG	0.592																																																0													57	67	64					20																	57767954		2053	4197	6250	SO:0001583	missense	128611			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 174"	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.1880C>T	20.37:g.57767954C>T	ENSP00000360069:p.Thr627Met		Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.642329	0.67244	.	.	ENSG00000124203	ENST00000371030	T	0.21932	1.98	5.21	5.21	0.72293	.	0.000000	0.56097	D	0.000032	T	0.45054	0.1323	L	0.56769	1.78	0.45995	D	0.998803	D	0.89917	1.0	D	0.83275	0.996	T	0.39901	-0.9591	10	0.87932	D	0	-23.4817	17.7439	0.88414	0.0:1.0:0.0:0.0	.	627	Q5JPB2	ZN831_HUMAN	M	627	ENSP00000360069:T627M	ENSP00000360069:T627M	T	+	2	0	ZNF831	57201349	1.000000	0.71417	0.918000	0.36340	0.553000	0.35397	5.953000	0.70290	2.423000	0.82170	0.655000	0.94253	ACG		0.592	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		T	57767954	C	T	57767954	3	4	704	1	0	0	0	0	1	0	0	0	18190	536	19	1	1882	1	ZNF831	20	57767954	Missense_Mutation	SNP	C	TCGA-KL-8335-01A-11D-2310-10	12555692	57767954	5257566	96	39248											
ERG	2078	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	21	39755470	39755470	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr21:39755470G>A	ENST00000417133.2	-	12	1501	c.1316C>T	c.(1315-1317)gCg>gTg	p.A439V	ERG_ENST00000398919.2_Missense_Mutation_p.A439V|ERG_ENST00000398907.1_Missense_Mutation_p.A409V|ERG_ENST00000398910.1_Missense_Mutation_p.A416V|ERG_ENST00000398905.1_Missense_Mutation_p.A408V|ERG_ENST00000442448.1_Missense_Mutation_p.A415V|ERG_ENST00000398911.1_Missense_Mutation_p.A415V|ERG_ENST00000453032.2_Missense_Mutation_p.A340V|ERG_ENST00000288319.7_Missense_Mutation_p.A432V|ERG_ENST00000398897.1_Missense_Mutation_p.A316V	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)	AGGGTGGGGCGCCACAAAGTT	0.572			T	"EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"	"Ewing sarcoma, prostate, AML"																																Esophageal Squamous(130;336 1700 3010 3083 40589)		Dom	yes		21	21q22.3	2078	v-ets erythroblastosis virus E26 oncogene like (avian)		"M, E, L"	0													49	50	49					21																	39755470		2203	4300	6503	SO:0001583	missense	2078				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.1316C>T	21.37:g.39755470G>A	ENSP00000414150:p.Ala439Val		A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	ENST00000417133.2	37	CCDS46648.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.640809	0.67244	.	.	ENSG00000157554	ENST00000398905;ENST00000398907;ENST00000288319;ENST00000398897;ENST00000398911;ENST00000417133;ENST00000398910;ENST00000442448;ENST00000453032;ENST00000398919	T;T;T;T;T;T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59	5.3	5.3	0.74995	.	0.360808	0.31566	N	0.007439	T	0.50565	0.1623	L	0.52573	1.65	0.80722	D	1	B;B;B;B	0.23854	0.024;0.048;0.092;0.08	B;B;B;B	0.25759	0.018;0.029;0.063;0.063	T	0.43196	-0.9406	10	0.27082	T	0.32	.	18.9951	0.92809	0.0:0.0:1.0:0.0	.	439;408;415;432	P11308;B5MDW0;P11308-1;P11308-4	ERG_HUMAN;.;.;.	V	408;409;432;316;415;439;416;415;340;439	ENSP00000381877:A408V;ENSP00000381879:A409V;ENSP00000288319:A432V;ENSP00000381871:A316V;ENSP00000381882:A415V;ENSP00000414150:A439V;ENSP00000381881:A416V;ENSP00000394694:A415V;ENSP00000396268:A340V;ENSP00000381891:A439V	ENSP00000288319:A432V	A	-	2	0	ERG	38677340	1.000000	0.71417	0.977000	0.42913	0.967000	0.64934	8.005000	0.88553	2.462000	0.83206	0.655000	0.94253	GCG		0.572	ERG-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207532.2	NM_182918		A	39755470	G	A	39755470	3	1	704	1	0	0	0	0	1	0	0	0	5224	1087	38	1	148	1	ERG	21	39755470	Missense_Mutation	SNP	G	TCGA-KL-8335-01A-11D-2310-10		39755470	8374425	97	39249											
C21orf29	54084	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	21	45987842	45987842	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr21:45987842C>T	ENST00000323084.4	-	2	195	c.130G>A	c.(130-132)Gcc>Acc	p.A44T	TSPEAR_ENST00000397916.1_5'UTR	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	44					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						CCGCTTGTGGCGCCATCAGAA	0.597																																																0													62	56	58					21																	45987842		2203	4300	6503	SO:0001583	missense	54084			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.130G>A	21.37:g.45987842C>T	ENSP00000321987:p.Ala44Thr			Missense_Mutation	SNP	ENST00000323084.4	37	CCDS13712.1	.	.	.	.	.	.	.	.	.	.	c	3.616	-0.078592	0.07141	.	.	ENSG00000175894	ENST00000323084;ENST00000397918;ENST00000341581	T	0.40225	1.04	4.88	-1.4	0.08968	Concanavalin A-like lectin/glucanase (1);	1.112690	0.06793	U	0.787278	T	0.29783	0.0744	L	0.56769	1.78	0.09310	N	0.999992	B	0.31837	0.342	B	0.17098	0.017	T	0.18461	-1.0336	10	0.11182	T	0.66	0.2249	5.7612	0.18201	0.1232:0.5092:0.0:0.3676	.	44	Q8WU66	TSEAR_HUMAN	T	44	ENSP00000321987:A44T	ENSP00000321987:A44T	A	-	1	0	TSPEAR	44812270	0.001000	0.12720	0.000000	0.03702	0.030000	0.12068	0.359000	0.20233	-0.099000	0.12263	-0.218000	0.12543	GCC		0.597	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098761.1	NM_144991		T	45987842	C	T	45987842	3	4	704	1	0	0	0	0	1	0	0	0	2126	768	27	1	1923	1	C21orf29	21	45987842	Missense_Mutation	SNP	C	TCGA-KL-8335-01A-11D-2310-10	6232372	45987842	2142053	98	39250											
SGSM3	27352	hgsc.bcm.edu;ucsc.edu	37	22	40802519	40802519	+	Silent	SNP	C	C	T			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr22:40802519C>T	ENST00000248929.9	+	10	1227	c.1038C>T	c.(1036-1038)gaC>gaT	p.D346D	SGSM3_ENST00000454798.2_Silent_p.D279D	NM_015705.4	NP_056520.2			small G protein signaling modulator 3											cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						AGATGGAGGACGCGGAGCTGC	0.632																																																0													40	35	37					22																	40802519		2203	4300	6503	SO:0001819	synonymous_variant	27352			AL022238	CCDS14002.1	22q13.1-q13.2	2013-07-09	2007-08-14	2007-08-14	ENSG00000100359	ENSG00000100359		"Small G protein signaling modulators"	25228	protein-coding gene	gene with protein product	"RUN and SH3 containing 3"	610440	"RUN and TBC1 domain containing 3"	RUTBC3		11214971, 17509819	Standard	XM_005261572		Approved	DJ1042K10.2, RUSC3, RabGAP-5, RABGAP5	uc003ayu.1	Q96HU1	OTTHUMG00000151141	ENST00000248929.9:c.1038C>T	22.37:g.40802519C>T				Silent	SNP	ENST00000248929.9	37	CCDS14002.1																																																																																				0.632	SGSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321504.2	NM_015705		T	40802519	C	T	40802519	2	4	704	1	0	0	0	0	0	0	0	1	14230	535	19	1		1	SGSM3	22	40802519	Silent	SNP	C	TCGA-KL-8335-01A-11D-2310-10		40802519	10502047	99	39251											
ABCD1	215	mdanderson.org	37	X	153006076	153006076	+	Silent	SNP	C	C	T	rs199997983		TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chrX:153006076C>T	ENST00000218104.3	+	7	2082	c.1683C>T	c.(1681-1683)gaC>gaT	p.D561D	U52111.14_ENST00000434284.1_RNA	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	561	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				alpha-linolenic acid metabolic process (GO:0036109)|ATP catabolic process (GO:0006200)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|linoleic acid metabolic process (GO:0043651)|long-chain fatty acid catabolic process (GO:0042758)|peroxisomal long-chain fatty acid import (GO:0015910)|peroxisomal membrane transport (GO:0015919)|peroxisome organization (GO:0007031)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid catabolic process (GO:0042760)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|peroxisomal fatty-acyl-CoA transporter activity (GO:0005325)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCTACCCGGACTCAGTGGAGG	0.637																																																0													81	65	70					X																	153006076		2203	4300	6503	SO:0001819	synonymous_variant	215			Z21876	CCDS14728.1	Xq28	2012-03-14			ENSG00000101986	ENSG00000101986		"ATP binding cassette transporters / subfamily D"	61	protein-coding gene	gene with protein product		300371		ALD		8441467, 6795626	Standard	NM_000033		Approved	AMN, ALDP, adrenoleukodystrophy	uc004fif.2	P33897	OTTHUMG00000024215	ENST00000218104.3:c.1683C>T	X.37:g.153006076C>T			Q6GTZ2	Silent	SNP	ENST00000218104.3	37	CCDS14728.1																																																																																				0.637	ABCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061041.1	NM_000033		T	153006076	C	T	153006076	2	4	704	1	0	0	0	0	0	0	0	1	60	564	20	2		2	ABCD1	23	153006076	Silent	SNP	C	TCGA-KL-8335-01A-11D-2310-10		153006076	2264484	100	39252											
PER3	8863	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	7887260	7887260	+	Missense_Mutation	SNP	C	C	G	rs201449626		TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr1:7887260C>G	ENST00000361923.2	+	17	2422	c.2247C>G	c.(2245-2247)gaC>gaG	p.D749E	PER3_ENST00000377532.3_Missense_Mutation_p.D757E|RP3-467L1.4_ENST00000451646.1_RNA	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	749	CSNK1E binding domain. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		AGCCGCCAGACAGCAGCAGCT	0.652													C|||	1	0.000199681	0.0	0.0	5008	,	,		14619	0.0		0.001	False		,,,				2504	0.0															0													25	31	29					1																	7887260		2190	4279	6469	SO:0001583	missense	8863			BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"period (Drosophila) homolog 3", "period homolog 3 (Drosophila)"			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.2247C>G	1.37:g.7887260C>G	ENSP00000355031:p.Asp749Glu		Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Missense_Mutation	SNP	ENST00000361923.2	37	CCDS89.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	10.58	1.390390	0.25118	.	.	ENSG00000049246	ENST00000377532;ENST00000361923	T;T	0.10477	2.87;2.87	4.43	0.178	0.15058	.	4.474110	0.00669	N	0.000634	T	0.13457	0.0326	L	0.56396	1.775	0.09310	N	1	P;P;P;P	0.44946	0.709;0.761;0.846;0.709	B;B;B;B	0.38683	0.202;0.145;0.279;0.202	T	0.38693	-0.9649	10	0.38643	T	0.18	.	8.3664	0.32389	0.0:0.5211:0.0:0.4789	.	749;757;757;749	A2I2N5;A6H8X0;P56645-2;P56645	.;.;.;PER3_HUMAN	E	757;749	ENSP00000366755:D757E;ENSP00000355031:D749E	ENSP00000355031:D749E	D	+	3	2	PER3	7809847	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	0.269000	0.18589	0.113000	0.18004	0.561000	0.74099	GAC		0.652	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000003607.1	NM_016831		G	7887260	C	G	7887260	3	3	705	1	0	0	0	0	1	0	0	0	11733	477	17	4	2313	4	PER3	1	7887260	Missense_Mutation	SNP	C	TCGA-KL-8336-01A-11D-2310-10		7887260	241363361	1	39253											
LRRC40	55631	broad.mit.edu;bcgsc.ca	37	1	70641632	70641632	+	Missense_Mutation	SNP	A	A	T			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr1:70641632A>T	ENST00000370952.3	-	7	917	c.838T>A	c.(838-840)Tta>Ata	p.L280I		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	280						membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						TCTGCCTCTAACATTTCAATC	0.318																																																0													107	105	106					1																	70641632		2203	4300	6503	SO:0001583	missense	55631				CCDS646.1	1p31.1	2008-02-05			ENSG00000066557	ENSG00000066557			26004	protein-coding gene	gene with protein product						12477932	Standard	NM_017768		Approved	FLJ20331	uc001der.2	Q9H9A6	OTTHUMG00000009348	ENST00000370952.3:c.838T>A	1.37:g.70641632A>T	ENSP00000359990:p.Leu280Ile		Q9BTR7|Q9NSK1|Q9NXC1	Missense_Mutation	SNP	ENST00000370952.3	37	CCDS646.1	.	.	.	.	.	.	.	.	.	.	A	10.79	1.449154	0.26074	.	.	ENSG00000066557	ENST00000370952	T	0.56776	0.44	5.46	1.48	0.22813	.	0.214009	0.39687	N	0.001289	T	0.17619	0.0423	N	0.12443	0.215	0.43835	D	0.996415	B	0.33477	0.413	B	0.42738	0.396	T	0.02844	-1.1103	10	0.23891	T	0.37	.	3.5059	0.07691	0.5349:0.0:0.2204:0.2448	.	280	Q9H9A6	LRC40_HUMAN	I	280	ENSP00000359990:L280I	ENSP00000359990:L280I	L	-	1	2	LRRC40	70414220	0.003000	0.15002	1.000000	0.80357	0.939000	0.58152	0.090000	0.15025	0.908000	0.36671	0.477000	0.44152	TTA		0.318	LRRC40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025914.1	NM_017768		T	70641632	A	T	70641632	3	4	705	1	0	0	0	0	1	0	0	0	9000	40	2	5	1006	5	LRRC40	1	70641632	Missense_Mutation	SNP	A	TCGA-KL-8336-01A-11D-2310-10	62754372	70641632	178608989	2	39254											
NBPF10	100132406	mdanderson.org	37	1	145296486	145296486	+	Silent	SNP	G	G	A			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr1:145296486G>A	ENST00000342960.5	+	3	443	c.408G>A	c.(406-408)ccG>ccA	p.P136P	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	136						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)		CGGATGAGCCGGACAAGTCCC	0.587																																																0																																										SO:0001819	synonymous_variant	100132406			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.408G>A	1.37:g.145296486G>A			Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	CCDS53355.1																																																																																				0.587	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		A	145296486	G	A	145296486	2	1	705	1	0	0	0	0	0	0	0	1	10195	1103	39	1		1	NBPF10	1	145296486	Silent	SNP	G	TCGA-KL-8336-01A-11D-2310-10	74654854	145296486	103954135	3	39255											
KCNN3	3782	broad.mit.edu	37	1	154841678	154841678	+	Missense_Mutation	SNP	A	A	G	rs35646025		TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr1:154841678A>G	ENST00000271915.4	-	1	1078	c.763T>C	c.(763-765)Ttc>Ctc	p.F255L	KCNN3_ENST00000358505.2_5'Flank	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	260					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	GCTTTGGGGAAGGTGGTGCTG	0.567																																																0													114	107	110					1																	154841678		2203	4300	6503	SO:0001583	missense	3782			AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.763T>C	1.37:g.154841678A>G	ENSP00000271915:p.Phe255Leu		B1ANX0|O43517|Q86VF9|Q8WXG7	Missense_Mutation	SNP	ENST00000271915.4	37	CCDS30880.1	.	.	.	.	.	.	.	.	.	.	A	10.86	1.469018	0.26335	.	.	ENSG00000143603	ENST00000271915	D	0.94966	-3.57	4.88	4.88	0.63580	.	0.000000	0.49916	D	0.000129	T	0.79741	0.4498	N	0.08118	0	0.80722	D	1	B;B	0.30281	0.275;0.275	B;B	0.30029	0.11;0.076	T	0.79659	-0.1711	10	0.28530	T	0.3	-29.2671	10.8122	0.46553	1.0:0.0:0.0:0.0	.	261;260	Q6JXY2;Q9UGI6	.;KCNN3_HUMAN	L	255	ENSP00000271915:F255L	ENSP00000271915:F255L	F	-	1	0	KCNN3	153108302	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.920000	0.48844	2.047000	0.60756	0.533000	0.62120	TTC		0.567	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		G	154841678	A	G	154841678	3	3	705	1	0	0	0	0	1	0	0	0	8082	72	3	3	1486	3	KCNN3	1	154841678	Missense_Mutation	SNP	A	TCGA-KL-8336-01A-11D-2310-10	9545192	154841678	94408943	4	39256											
IFI16	3428	broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	159023498	159023498	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr1:159023498T>C	ENST00000295809.7	+	11	2516	c.2261T>C	c.(2260-2262)aTt>aCt	p.I754T	IFI16_ENST00000368131.4_Missense_Mutation_p.I698T|IFI16_ENST00000359709.3_Missense_Mutation_p.I698T|IFI16_ENST00000448393.2_Missense_Mutation_p.I642T|IFI16_ENST00000368132.3_Missense_Mutation_p.I698T|IFI16_ENST00000340979.6_Missense_Mutation_p.I642T|IFI16_ENST00000430894.2_Missense_Mutation_p.I702T			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	754	HIN-200 2. {ECO:0000255|PROSITE- ProRule:PRU00106}.|Interaction with TP53 core domain.				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)					AGATCTGTAATTCATAGTCAC	0.393																																																0													121	121	121					1																	159023498		2203	4300	6503	SO:0001583	missense	3428			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.2261T>C	1.37:g.159023498T>C	ENSP00000295809:p.Ile754Thr		B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Missense_Mutation	SNP	ENST00000295809.7	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	4.598|4.598	0.111156|0.111156	0.08831|0.08831	.|.	.|.	ENSG00000163565|ENSG00000163565	ENST00000448393|ENST00000359709;ENST00000295809;ENST00000340979;ENST00000368131;ENST00000368132;ENST00000430894	.|T;T;T;T;T	.|0.21932	.|1.98;1.98;1.98;1.98;1.98	4.83|4.83	-3.69|-3.69	0.04450|0.04450	.|.	.|.	.|.	.|.	.|.	T|T	0.03178|0.03178	0.0093|0.0093	N|N	0.25380|0.25380	0.74|0.74	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.18741	.|0.002;0.03;0.0	.|B;B;B	.|0.23852	.|0.004;0.049;0.008	T|T	0.46076|0.46076	-0.9217|-0.9217	5|9	.|0.13108	.|T	.|0.6	.|.	5.7596|5.7596	0.18192|0.18192	0.0:0.3952:0.3196:0.2851|0.0:0.3952:0.3196:0.2851	.|.	.|702;642;698	.|E7EPR3;Q16666-3;Q16666-2	.|.;.;.	L|T	463|383;754;642;698;698;702	.|ENSP00000295809:I754T;ENSP00000342741:I642T;ENSP00000357113:I698T;ENSP00000357114:I698T;ENSP00000394935:I702T	.|ENSP00000295809:I754T	F|I	+|+	1|2	0|0	IFI16|IFI16	157290122|157290122	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.639000|0.639000	0.38242|0.38242	-1.761000|-1.761000	0.01805|0.01805	-0.563000|-0.563000	0.06078|0.06078	0.496000|0.496000	0.49642|0.49642	TTC|ATT		0.393	IFI16-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000421720.1	NM_005531		C	159023498	T	C	159023498	3	2	705	1	0	0	0	0	1	0	0	0	7513	1493	52	3	2127	3	IFI16	1	159023498	Missense_Mutation	SNP	T	TCGA-KL-8336-01A-11D-2310-10	4181820	159023498	90227123	5	39257											
F5	2153	broad.mit.edu	37	1	169511773	169511773	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr1:169511773A>G	ENST00000367797.3	-	13	2756	c.2555T>C	c.(2554-2556)cTt>cCt	p.L852P	F5_ENST00000367796.3_Missense_Mutation_p.L857P	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	852	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)	TCCAGCACCAAGTGAAAGTAG	0.448																																																0													186	175	178					1																	169511773		2203	4300	6503	SO:0001583	missense	2153			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.2555T>C	1.37:g.169511773A>G	ENSP00000356771:p.Leu852Pro		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	A	15.21	2.765491	0.49574	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.21543	2.0;2.0	5.53	-7.37	0.01412	.	1.545810	0.04334	N	0.352893	T	0.11281	0.0275	L	0.42245	1.32	0.09310	N	1	D	0.64830	0.994	P	0.60173	0.87	T	0.32929	-0.9888	10	0.59425	D	0.04	0.0797	1.0413	0.01559	0.2441:0.1113:0.2096:0.4349	.	852	P12259	FA5_HUMAN	P	852;857	ENSP00000356771:L852P;ENSP00000356770:L857P	ENSP00000356770:L857P	L	-	2	0	F5	167778397	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	0.055000	0.14229	-1.317000	0.02292	-0.480000	0.04831	CTT		0.448	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		G	169511773	A	G	169511773	3	3	705	1	0	0	0	0	1	0	0	0	5350	72	3	3	4171	3	F5	1	169511773	Missense_Mutation	SNP	A	TCGA-KL-8336-01A-11D-2310-10	10488275	169511773	79738848	6	39258											
DHX9	1660	hgsc.bcm.edu	37	1	182827873	182827873	+	Silent	SNP	A	A	G			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr1:182827873A>G	ENST00000367549.3	+	10	1016	c.906A>G	c.(904-906)gaA>gaG	p.E302E		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	302	Interaction with BRCA1.				ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						AATAGCCTGAAGATCCTTCTG	0.413																																					Colon(69;210 1162 3697 13559 39565)											0													70	63	65					1																	182827873		1846	4096	5942	SO:0001819	synonymous_variant	1660			L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"DEAH-boxes"	2750	protein-coding gene	gene with protein product	"NDH II", "RNA helicase A"	603115	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)", "DEAH (Asp-Glu-Ala-His) box polypeptide 9"	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.906A>G	1.37:g.182827873A>G			B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Silent	SNP	ENST00000367549.3	37	CCDS41444.1																																																																																				0.413	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588		G	182827873	A	G	182827873	2	3	705	1	0	0	0	0	0	0	0	1	4518	69	3	3		3	DHX9	1	182827873	Silent	SNP	A	TCGA-KL-8336-01A-11D-2310-10	13316100	182827873	66422748	7	39259											
OR2C3	81472	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	247695452	247695452	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr1:247695452T>C	ENST00000366487.3	-	2	723	c.362A>G	c.(361-363)tAt>tGt	p.Y121C	GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000531662.1_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	121						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)			GTAGCGGTCATAGGACATGGT	0.562																																																0													75	77	76					1																	247695452		2203	4300	6503	SO:0001583	missense	81472			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.362A>G	1.37:g.247695452T>C	ENSP00000355443:p.Tyr121Cys		Q5JQS4|Q6IEZ1|Q8NGW7	Missense_Mutation	SNP	ENST00000366487.3	37	CCDS1634.2	.	.	.	.	.	.	.	.	.	.	T	14.94	2.684637	0.47991	.	.	ENSG00000196242	ENST00000366487	T	0.01347	4.99	4.04	2.88	0.33553	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34531	U	0.003895	T	0.05960	0.0155	M	0.81497	2.545	0.25863	N	0.983802	D	0.71674	0.998	P	0.60789	0.879	T	0.06162	-1.0842	10	0.87932	D	0	.	8.2015	0.31428	0.1787:0.0:0.0:0.8213	.	121	Q8N628	OR2C3_HUMAN	C	121	ENSP00000355443:Y121C	ENSP00000355443:Y121C	Y	-	2	0	OR2C3	245762075	0.972000	0.33761	0.399000	0.26333	0.888000	0.51559	1.604000	0.36804	0.690000	0.31570	0.528000	0.53228	TAT		0.562	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097626.2	NM_198074		C	247695452	T	C	247695452	3	2	705	1	0	0	0	0	1	0	0	0	10995	1406	49	3	604	3	OR2C3	1	247695452	Missense_Mutation	SNP	T	TCGA-KL-8336-01A-11D-2310-10	64867579	247695452	1555169	8	39260											
DNAH6	1768	broad.mit.edu	37	2	84811142	84811142	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr2:84811142A>G	ENST00000237449.6	+	14	2257	c.2249A>G	c.(2248-2250)gAg>gGg	p.E750G	DNAH6_ENST00000398278.2_Missense_Mutation_p.E750G|DNAH6_ENST00000389394.3_Missense_Mutation_p.E750G			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	750	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						CTTGAAGATGAGGGGAATATA	0.383																																																0													127	125	125					2																	84811142		2203	4300	6503	SO:0001583	missense	1768			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"Axonemal dyneins"	2951	protein-coding gene	gene with protein product		603336	"dynein, axonemal, heavy polypeptide 6", "dynein heavy chain-like 1"	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.2249A>G	2.37:g.84811142A>G	ENSP00000237449:p.Glu750Gly		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	ENST00000237449.6	37	CCDS46348.1	.	.	.	.	.	.	.	.	.	.	A	9.664	1.144826	0.21288	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.28069	1.63;1.74;1.63	5.73	5.73	0.89815	.	0.000000	0.44902	D	0.000406	T	0.50514	0.1620	M	0.63843	1.955	0.42205	D	0.991785	B;D	0.89917	0.029;1.0	B;D	0.69479	0.027;0.964	T	0.43458	-0.9390	10	0.27785	T	0.31	.	14.9947	0.71421	1.0:0.0:0.0:0.0	.	750;329	Q9C0G6;Q9C0G6-3	DYH6_HUMAN;.	G	750	ENSP00000374045:E750G;ENSP00000381326:E750G;ENSP00000237449:E750G	ENSP00000237449:E750G	E	+	2	0	DNAH6	84664653	1.000000	0.71417	0.955000	0.39395	0.036000	0.12997	7.108000	0.77055	2.180000	0.69256	0.482000	0.46254	GAG		0.383	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370		G	84811142	A	G	84811142	3	3	705	1	0	0	0	0	1	0	0	0	4607	304	11	3	2303	3	DNAH6	2	84811142	Missense_Mutation	SNP	A	TCGA-KL-8336-01A-11D-2310-10		84811142	158388231	9	39261											
NCAPH	23397	ucsc.edu;bcgsc.ca	37	2	97034713	97034713	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr2:97034713A>G	ENST00000240423.4	+	16	2045	c.2002A>G	c.(2002-2004)Aac>Gac	p.N668D	NCAPH_ENST00000427946.1_Missense_Mutation_p.N532D|NCAPH_ENST00000455200.1_Missense_Mutation_p.N657D	NM_001281710.1|NM_001281711.1|NM_015341.3	NP_001268639.1|NP_001268640.1|NP_056156.2	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	668					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				CTGTTAGGCAAACCACAGGGA	0.498																																																0													29	28	28					2																	97034713		2174	4249	6423	SO:0001583	missense	23397			BC024211	CCDS2021.1, CCDS62960.1	2q11.2	2008-02-05	2006-09-04	2006-09-04	ENSG00000121152	ENSG00000121152			1112	protein-coding gene	gene with protein product		602332	"barren (Drosophila) homolog", "barren homolog (Drosophila)", "barren homolog 1 (Drosophila)"	BRRN1		9417923	Standard	NM_015341		Approved	CAP-H, hCAP-H	uc002svz.1	Q15003	OTTHUMG00000130451	ENST00000240423.4:c.2002A>G	2.37:g.97034713A>G	ENSP00000240423:p.Asn668Asp		B4E189|Q8TB87	Missense_Mutation	SNP	ENST00000240423.4	37	CCDS2021.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.75|12.75	2.032861|2.032861	0.35893|0.35893	.|.	.|.	ENSG00000121152|ENSG00000121152	ENST00000435349|ENST00000240423;ENST00000427946;ENST00000455200	.|T;T;T	.|0.43688	.|0.94;0.94;0.94	5.97|5.97	3.58|3.58	0.41010|0.41010	.|.	.|0.937499	.|0.09187	.|N	.|0.836566	T|T	0.40222|0.40222	0.1108|0.1108	M|M	0.69823|0.69823	2.125|2.125	0.80722|0.80722	D|D	1|1	.|B;B	.|0.31125	.|0.202;0.309	.|B;B	.|0.34452	.|0.183;0.138	T|T	0.10451|0.10451	-1.0629|-1.0629	5|10	.|0.10111	.|T	.|0.7	-16.6939|-16.6939	6.0922|6.0922	0.20001|0.20001	0.7534:0.1639:0.0826:0.0|0.7534:0.1639:0.0826:0.0	.|.	.|644;668	.|B4DRG7;Q15003	.|.;CND2_HUMAN	R|D	108|668;532;657	.|ENSP00000240423:N668D;ENSP00000400774:N532D;ENSP00000407308:N657D	.|ENSP00000240423:N668D	K|N	+|+	2|1	0|0	NCAPH|NCAPH	96398440|96398440	0.964000|0.964000	0.33143|0.33143	0.968000|0.968000	0.41197|0.41197	0.673000|0.673000	0.39480|0.39480	1.321000|1.321000	0.33678|0.33678	0.502000|0.502000	0.28037|0.28037	0.533000|0.533000	0.62120|0.62120	AAA|AAC		0.498	NCAPH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252842.2	NM_015341		G	97034713	A	G	97034713	3	3	705	1	0	0	0	0	1	0	0	0	10211	14	1	3	2064	3	NCAPH	2	97034713	Missense_Mutation	SNP	A	TCGA-KL-8336-01A-11D-2310-10	12223571	97034713	146164660	10	39262											
SLC35F5	80255	broad.mit.edu	37	2	114508020	114508020	+	Frame_Shift_Del	DEL	G	G	-	rs60727155	byFrequency	TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr2:114508020delG	ENST00000245680.2	-	4	812	c.399delC	c.(397-399)cgcfs	p.R133fs	SLC35F5_ENST00000409342.1_Frame_Shift_Del_p.R127fs	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	133					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						CATGCTTTCCGCGAAGTCCTC	0.348																																																0													86	89	88					2																	114508020		2203	4300	6503	SO:0001589	frameshift_variant	80255			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.399delC	2.37:g.114508020delG	ENSP00000245680:p.Arg133fs		Q9H6P8|Q9H7D8	Frame_Shift_Del	DEL	ENST00000245680.2	37	CCDS2119.1																																																																																				0.348	SLC35F5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254150.1	NM_025181		-	114508020	G	-	114508020	7	5	705	1	0	1	0	1	0	0	0	0	14598	1074	38	0	1220	0	SLC35F5	2	114508020	Frame_Shift_Del	DEL	G	TCGA-KL-8336-01A-11D-2310-10	17473307	114508020	128691353	11	39263											
ABCA12	26154	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	2	215812198	215812198	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr2:215812198C>T	ENST00000272895.7	-	48	7406	c.7187G>A	c.(7186-7188)aGa>aAa	p.R2396K	AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.R2078K	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2396	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)			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)		GGATAATTTTCTTTTTGTGCC	0.418																																					Ovarian(66;664 1488 5121 34295)											0													160	158	159					2																	215812198		2203	4300	6503	SO:0001583	missense	26154			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.7187G>A	2.37:g.215812198C>T	ENSP00000272895:p.Arg2396Lys		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	C	35	5.435377	0.96150	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	T;T	0.80566	-1.39;-1.39	5.86	5.86	0.93980	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.074464	0.56097	N	0.000024	D	0.89227	0.6655	M	0.64567	1.98	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.89225	0.3573	10	0.87932	D	0	.	20.1931	0.98233	0.0:1.0:0.0:0.0	.	2396;2078	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	K	2396;2078	ENSP00000272895:R2396K;ENSP00000374312:R2078K	ENSP00000272895:R2396K	R	-	2	0	ABCA12	215520443	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.092000	0.76930	2.771000	0.95319	0.563000	0.77884	AGA		0.418	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		T	215812198	C	T	215812198	3	4	705	1	0	0	0	0	1	0	0	0	30	913	32	2	624	2	ABCA12	2	215812198	Missense_Mutation	SNP	C	TCGA-KL-8336-01A-11D-2310-10	101304178	215812198	27387175	12	39264											
QRICH1	54870	ucsc.edu;mdanderson.org;bcgsc.ca	37	3	49114159	49114159	+	Missense_Mutation	SNP	G	G	C			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr3:49114159G>C	ENST00000395443.2	-	2	764	c.292C>G	c.(292-294)Cag>Gag	p.Q98E	QRICH1_ENST00000357496.2_Missense_Mutation_p.Q98E|QRICH1_ENST00000424300.1_Missense_Mutation_p.Q98E	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	98	Gln-rich.					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)		TGCTGCGGCTGCTGAACCTGG	0.483																																																0													253	262	259					3																	49114159		2203	4300	6503	SO:0001583	missense	54870				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.292C>G	3.37:g.49114159G>C	ENSP00000378830:p.Gln98Glu		Q4G0F7|Q7L621|Q8TEA5	Missense_Mutation	SNP	ENST00000395443.2	37	CCDS2787.1	.	.	.	.	.	.	.	.	.	.	G	10.85	1.467285	0.26335	.	.	ENSG00000198218	ENST00000395443;ENST00000357496;ENST00000424300;ENST00000437939;ENST00000450685;ENST00000411682	.	.	.	5.37	5.37	0.77165	.	0.483859	0.22110	N	0.064497	T	0.38772	0.1053	N	0.08118	0	0.38317	D	0.943429	B	0.25486	0.127	B	0.19148	0.024	T	0.43750	-0.9372	9	0.66056	D	0.02	-2.655	14.6884	0.69065	0.0:0.1448:0.8552:0.0	.	98	Q2TAL8	QRIC1_HUMAN	E	98	.	ENSP00000350094:Q98E	Q	-	1	0	QRICH1	49089163	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.239000	0.65371	2.530000	0.85305	0.561000	0.74099	CAG		0.483	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730		C	49114159	G	C	49114159	3	2	705	1	0	0	0	0	1	0	0	0	12885	1328	46	4	2074	4	QRICH1	3	49114159	Missense_Mutation	SNP	G	TCGA-KL-8336-01A-11D-2310-10		49114159	148908271	13	39265											
IL17RB	55540	broad.mit.edu	37	3	53886982	53886982	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr3:53886982A>G	ENST00000288167.3	+	5	448	c.439A>G	c.(439-441)Aat>Gat	p.N147D		NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN	interleukin 17 receptor B	147					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|regulation of cell growth (GO:0001558)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	cytokine receptor activity (GO:0004896)			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		TGCAAATATGAATGAAGATGG	0.418																																																0													149	142	144					3																	53886982		2203	4300	6503	SO:0001583	missense	55540			AF212365	CCDS2874.1	3p21.1	2008-02-05		2003-07-09	ENSG00000056736	ENSG00000056736		"Interleukins and interleukin receptors"	18015	protein-coding gene	gene with protein product		605458	"interleukin 17B receptor"	IL17BR		10749887, 10815801	Standard	NM_018725		Approved	IL17RH1, EVI27, CRL4	uc003dha.3	Q9NRM6	OTTHUMG00000158280	ENST00000288167.3:c.439A>G	3.37:g.53886982A>G	ENSP00000288167:p.Asn147Asp		Q9BPZ0|Q9NRL4|Q9NRM5	Missense_Mutation	SNP	ENST00000288167.3	37	CCDS2874.1	.	.	.	.	.	.	.	.	.	.	A	15.14	2.745677	0.49151	.	.	ENSG00000056736	ENST00000288167;ENST00000494338	T;T	0.15718	3.3;2.4	6.07	4.92	0.64577	.	0.102782	0.43260	N	0.000583	T	0.27027	0.0662	L	0.42245	1.32	0.31571	N	0.656263	D	0.76494	0.999	D	0.80764	0.994	T	0.10636	-1.0621	10	0.10902	T	0.67	-19.2642	8.7811	0.34792	0.916:0.0:0.084:0.0	.	147	Q9NRM6	I17RB_HUMAN	D	147	ENSP00000288167:N147D;ENSP00000418638:N147D	ENSP00000288167:N147D	N	+	1	0	IL17RB	53862022	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	0.998000	0.29744	1.128000	0.42052	0.533000	0.62120	AAT		0.418	IL17RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350563.1	NM_172234		G	53886982	A	G	53886982	3	3	705	1	0	0	0	0	1	0	0	0	7642	246	9	3	457	3	IL17RB	3	53886982	Missense_Mutation	SNP	A	TCGA-KL-8336-01A-11D-2310-10	4772823	53886982	144135448	14	39266											
ECE2	9718	broad.mit.edu	37	3	184002787	184002787	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr3:184002787T>C	ENST00000402825.3	+	9	1396	c.1396T>C	c.(1396-1398)Tct>Cct	p.S466P	ECE2_ENST00000404464.3_Missense_Mutation_p.S348P|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000359140.4_Missense_Mutation_p.S319P|ECE2_ENST00000357474.5_Missense_Mutation_p.S394P	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	466	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)			TGAGTTCCTGTCTTTCTTGCT	0.547											OREG0015945	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													83	81	82					3																	184002787		2203	4300	6503	SO:0001583	missense	9718			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.1396T>C	3.37:g.184002787T>C	ENSP00000384223:p.Ser466Pro	1988	A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	ENST00000402825.3	37	CCDS3256.2	.	.	.	.	.	.	.	.	.	.	T	16.62	3.174854	0.57692	.	.	ENSG00000145194	ENST00000402825;ENST00000359140;ENST00000404464;ENST00000357474;ENST00000430587	T;T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93;-0.93	4.21	4.21	0.49690	Peptidase M13 (1);	0.129673	0.53938	D	0.000052	T	0.76004	0.3927	L	0.43152	1.355	0.40643	D	0.981962	P;P;P;B;P;P;P	0.52463	0.853;0.953;0.953;0.011;0.942;0.823;0.943	P;P;P;B;P;P;P	0.59825	0.633;0.864;0.864;0.029;0.786;0.596;0.817	T	0.76471	-0.2947	10	0.49607	T	0.09	-9.1459	7.9437	0.29974	0.1832:0.0:0.0:0.8167	.	68;319;337;348;394;319;466	B4DHU4;B4DKF3;B4DF19;O60344-2;O60344-5;O60344-3;O60344	.;.;.;.;.;.;ECE2_HUMAN	P	466;319;348;394;340	ENSP00000384223:S466P;ENSP00000352052:S319P;ENSP00000385846:S348P;ENSP00000350066:S394P;ENSP00000398444:S340P	ENSP00000350066:S394P	S	+	1	0	ECE2	185485481	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.263000	0.43293	1.777000	0.52277	0.523000	0.50628	TCT		0.547	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3	NM_014693		C	184002787	T	C	184002787	3	2	705	1	0	0	0	0	1	0	0	0	4892	1667	58	3	1994	3	ECE2	3	184002787	Missense_Mutation	SNP	T	TCGA-KL-8336-01A-11D-2310-10	130115805	184002787	14019643	15	39267											
FAT4	79633	ucsc.edu;mdanderson.org	37	4	126337737	126337737	+	Silent	SNP	A	A	C			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr4:126337737A>C	ENST00000394329.3	+	6	6991	c.6978A>C	c.(6976-6978)acA>acC	p.T2326T	FAT4_ENST00000335110.5_Silent_p.T624T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2326	Cadherin 22. {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						ATCGGGAAACAAAAGAGCGCT	0.428																																																0													234	226	229					4																	126337737		2203	4300	6503	SO:0001819	synonymous_variant	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.6978A>C	4.37:g.126337737A>C			A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	CCDS3732.3																																																																																				0.428	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		C	126337737	A	C	126337737	2	2	705	1	0	0	0	0	0	0	0	1	5694	117	5	5		5	FAT4	4	126337737	Silent	SNP	A	TCGA-KL-8336-01A-11D-2310-10		126337737	64816539	16	39268											
PRMT10	90826	broad.mit.edu;bcgsc.ca	37	4	148594863	148594863	+	Missense_Mutation	SNP	A	A	T			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr4:148594863A>T	ENST00000322396.6	-	3	743	c.501T>A	c.(499-501)aaT>aaA	p.N167K	PRMT10_ENST00000541232.1_Missense_Mutation_p.N54K	NM_138364.2	NP_612373.2	Q6P2P2	ANM9_HUMAN		167	SAM-dependent MTase PRMT-type 1. {ECO:0000255|PROSITE-ProRule:PRU01015}.					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						GGATTGCTGCATTATAAATTG	0.393																																																0													92	91	92					4																	148594863		2203	4300	6503	SO:0001583	missense	90826																														ENST00000322396.6:c.501T>A	4.37:g.148594863A>T	ENSP00000314396:p.Asn167Lys		A8KA39|B3KU92|Q6ZR58|Q8N383|Q9BT55|Q9NT98	Missense_Mutation	SNP	ENST00000322396.6	37	CCDS3771.1	.	.	.	.	.	.	.	.	.	.	A	2.429	-0.331220	0.05314	.	.	ENSG00000164169	ENST00000322396;ENST00000541232	T;T	0.20881	2.04;2.04	5.43	-0.181	0.13291	.	0.160534	0.56097	D	0.000027	T	0.10121	0.0248	L	0.28649	0.875	0.28223	N	0.926456	B	0.16166	0.016	B	0.18561	0.022	T	0.16364	-1.0405	10	0.21540	T	0.41	-4.7694	1.2249	0.01932	0.2977:0.213:0.3247:0.1646	.	167	Q6P2P2	ANM10_HUMAN	K	167;54	ENSP00000314396:N167K;ENSP00000439508:N54K	ENSP00000314396:N167K	N	-	3	2	PRMT10	148814313	0.928000	0.31464	0.991000	0.47740	0.716000	0.41182	0.127000	0.15790	0.044000	0.15775	0.533000	0.62120	AAT		0.393	PRMT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364650.1			T	148594863	A	T	148594863	3	4	705	1	0	0	0	0	1	0	0	0	12541	214	8	5	2076	5	PRMT10	4	148594863	Missense_Mutation	SNP	A	TCGA-KL-8336-01A-11D-2310-10	22257126	148594863	42559413	17	39269											
ADCY2	108	broad.mit.edu;mdanderson.org;bcgsc.ca	37	5	7707862	7707862	+	Missense_Mutation	SNP	G	G	A	rs140842335		TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr5:7707862G>A	ENST00000338316.4	+	9	1401	c.1312G>A	c.(1312-1314)Gct>Act	p.A438T	ADCY2_ENST00000537121.1_Missense_Mutation_p.A258T|RP11-711G10.1_ENST00000514105.2_RNA	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	438					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						CTTGAATGGCGCTTATAAAGT	0.413													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17256	0.0		0.0	False		,,,				2504	0.0															0								G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	126	126	126		1312	6	0.9	5	dbSNP_134	126	2,8598	2.2+/-6.3	0,2,4298	yes	missense	ADCY2	NM_020546.2	58	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	possibly-damaging	438/1092	7707862	3,13003	2203	4300	6503	SO:0001583	missense	108			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.1312G>A	5.37:g.7707862G>A	ENSP00000342952:p.Ala438Thr		B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	G	31	5.083816	0.94050	2.27E-4	2.33E-4	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	T;T	0.81330	-1.48;-1.48	5.96	5.96	0.96718	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.178753	0.48286	D	0.000189	D	0.83519	0.5272	N	0.25647	0.755	0.44843	D	0.997853	D;D	0.62365	0.975;0.991	P;D	0.62955	0.698;0.909	T	0.81466	-0.0920	10	0.34782	T	0.22	.	20.4192	0.99033	0.0:0.0:1.0:0.0	.	258;438	B7Z2C1;Q08462	.;ADCY2_HUMAN	T	438;289;258	ENSP00000342952:A438T;ENSP00000444803:A258T	ENSP00000342952:A438T	A	+	1	0	ADCY2	7760862	1.000000	0.71417	0.938000	0.37757	0.949000	0.60115	4.894000	0.63206	2.831000	0.97527	0.650000	0.86243	GCT		0.413	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		A	7707862	G	A	7707862	3	1	705	1	0	0	0	0	1	0	0	0	294	1087	38	1	1346	1	ADCY2	5	7707862	Missense_Mutation	SNP	G	TCGA-KL-8336-01A-11D-2310-10		7707862	173207398	18	39270											
AMACR	23600	broad.mit.edu	37	5	33989302	33989302	+	Missense_Mutation	SNP	G	G	C			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr5:33989302G>C	ENST00000335606.6	-	5	1133	c.1045C>G	c.(1045-1047)Cac>Gac	p.H349D	AMACR_ENST00000502637.1_Missense_Mutation_p.H334D|AMACR_ENST00000382072.2_3'UTR|AMACR_ENST00000514195.1_5'UTR|RP11-1084J3.4_ENST00000382079.3_3'UTR|AMACR_ENST00000382085.3_Missense_Mutation_p.H349D	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase	349					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alpha-methylacyl-CoA racemase activity (GO:0008111)|receptor binding (GO:0005102)			endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						TCCTCAGTGTGTTCTCCTATG	0.448																																																0													89	92	91					5																	33989302		2203	4300	6503	SO:0001583	missense	23600			AF047020	CCDS3902.1, CCDS3903.1, CCDS54836.1	5p13.2	2012-05-16			ENSG00000242110	ENSG00000242110	5.1.99.4		451	protein-coding gene	gene with protein product		604489				9307041	Standard	NM_014324		Approved	RACE	uc003jij.3	Q9UHK6	OTTHUMG00000090734	ENST00000335606.6:c.1045C>G	5.37:g.33989302G>C	ENSP00000334424:p.His349Asp		A5YM47|B8Y916|B8Y918|F8W9N1|O43673|Q3KT79|Q96GH1|Q9Y3Q1	Missense_Mutation	SNP	ENST00000335606.6	37	CCDS3902.1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.705693	0.48412	.	.	ENSG00000242110	ENST00000335606;ENST00000382085;ENST00000502637	T;T;T	0.74842	-0.88;-0.88;-0.88	5.6	5.6	0.85130	CoA-transferase family III domain (1);	0.000000	0.85682	D	0.000000	T	0.72700	0.3493	L	0.47078	1.49	0.80722	D	1	B;B;B	0.27997	0.197;0.063;0.063	B;B;B	0.35470	0.203;0.082;0.082	T	0.66031	-0.6024	10	0.19147	T	0.46	-26.3242	19.9797	0.97321	0.0:0.0:1.0:0.0	.	349;334;349	F8W9N1;D6RB81;Q9UHK6	.;.;AMACR_HUMAN	D	349;349;334	ENSP00000334424:H349D;ENSP00000371517:H349D;ENSP00000424351:H334D	ENSP00000334424:H349D	H	-	1	0	AMACR	34025059	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	9.456000	0.97628	2.791000	0.96007	0.637000	0.83480	CAC		0.448	AMACR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207467.1	NM_014324		C	33989302	G	C	33989302	3	2	705	1	0	0	0	0	1	0	0	0	562	1377	48	4	165	4	AMACR	5	33989302	Missense_Mutation	SNP	G	TCGA-KL-8336-01A-11D-2310-10	26281440	33989302	146925958	19	39271											
WDR70	55100	bcgsc.ca	37	5	37721278	37721278	+	Missense_Mutation	SNP	G	G	T			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr5:37721278G>T	ENST00000265107.4	+	14	1634	c.1478G>T	c.(1477-1479)gGa>gTa	p.G493V		NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	493							enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACTGGAAATGGATTGGCTAAA	0.468																																																0													146	140	142					5																	37721278		2203	4300	6503	SO:0001583	missense	55100			BC009648	CCDS34147.1	5p13.2	2013-01-09			ENSG00000082068	ENSG00000082068		"WD repeat domain containing"	25495	protein-coding gene	gene with protein product						12477932	Standard	NM_018034		Approved	FLJ10233	uc003jkv.3	Q9NW82	OTTHUMG00000162263	ENST00000265107.4:c.1478G>T	5.37:g.37721278G>T	ENSP00000265107:p.Gly493Val		Q9H053	Missense_Mutation	SNP	ENST00000265107.4	37	CCDS34147.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.768127	0.90020	.	.	ENSG00000082068	ENST00000265107	T	0.02197	4.4	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	0.19604	0.0471	M	0.90369	3.11	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00164	-1.1968	10	0.72032	D	0.01	-62.8479	20.8794	0.99867	0.0:0.0:1.0:0.0	.	493	Q9NW82	WDR70_HUMAN	V	493	ENSP00000265107:G493V	ENSP00000265107:G493V	G	+	2	0	WDR70	37757035	1.000000	0.71417	0.994000	0.49952	0.983000	0.72400	9.444000	0.97578	2.941000	0.99782	0.655000	0.94253	GGA		0.468	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368294.1	NM_018034		T	37721278	G	T	37721278	3	4	705	1	0	0	0	0	1	0	0	0	17326	1174	41	4	1532	4	WDR70	5	37721278	Missense_Mutation	SNP	G	TCGA-KL-8336-01A-11D-2310-10	3731976	37721278	143193982	20	39272	322	2									
WDR70	55100	broad.mit.edu	37	5	37721279	37721279	+	Silent	SNP	A	A	G			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr5:37721279A>G	ENST00000265107.4	+	14	1635	c.1479A>G	c.(1477-1479)ggA>ggG	p.G493G		NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	493							enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTGGAAATGGATTGGCTAAAG	0.468																																																0													146	140	142					5																	37721279		2203	4300	6503	SO:0001819	synonymous_variant	55100			BC009648	CCDS34147.1	5p13.2	2013-01-09			ENSG00000082068	ENSG00000082068		"WD repeat domain containing"	25495	protein-coding gene	gene with protein product						12477932	Standard	NM_018034		Approved	FLJ10233	uc003jkv.3	Q9NW82	OTTHUMG00000162263	ENST00000265107.4:c.1479A>G	5.37:g.37721279A>G			Q9H053	Silent	SNP	ENST00000265107.4	37	CCDS34147.1																																																																																				0.468	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368294.1	NM_018034		G	37721279	A	G	37721279	2	3	705	1	0	0	0	0	0	0	0	1	17326	320	12	3		3	WDR70	5	37721279	Silent	SNP	A	TCGA-KL-8336-01A-11D-2310-10	1	37721279	143193981	21	39273	322	2									
MUC21	394263	mdanderson.org	37	6	30954890	30954890	+	Missense_Mutation	SNP	A	A	G	rs9262379		TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr6:30954890A>G	ENST00000376296.3	+	2	1179	c.938A>G	c.(937-939)aAc>aGc	p.N313S	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	313	28 X 15 AA approximate tandem repeats.|Ser-rich.		N -> S (in dbSNP:rs9262379). {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						AGTGGGGCCAACACAGCCACC	0.612																																																0													159	154	156					6																	30954890		2203	4300	6503	SO:0001583	missense	394263			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.938A>G	6.37:g.30954890A>G	ENSP00000365473:p.Asn313Ser		B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	ENST00000376296.3	37	CCDS34388.1	.	.	.	.	.	.	.	.	.	.	G	0.142	-1.101159	0.01843	.	.	ENSG00000204544	ENST00000376296	T	0.01215	5.16	4.3	1.1	0.20463	.	.	.	.	.	T	0.00144	0.0004	N	0.01352	-0.895	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.21827	-1.0234	8	.	.	.	-1.0265	1.6226	0.02716	0.1878:0.2961:0.3647:0.1514	rs9262379	313	Q5SSG8	MUC21_HUMAN	S	313	ENSP00000365473:N313S	.	N	+	2	0	MUC21	31062869	0.000000	0.05858	0.007000	0.13788	0.004000	0.04260	-1.270000	0.02831	0.150000	0.19136	-0.320000	0.08662	AAC		0.612	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		G	30954890	A	G	30954890	3	3	705	1	0	0	0	0	1	0	0	0	9979	43	2	3	944	3	MUC21	6	30954890	Missense_Mutation	SNP	A	TCGA-KL-8336-01A-11D-2310-10		30954890	140160177	22	39274											
DAAM2	23500	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	6	39867902	39867902	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr6:39867902T>C	ENST00000398904.2	+	23	2911	c.2729T>C	c.(2728-2730)gTc>gCc	p.V910A	RP11-61I13.3_ENST00000430595.1_RNA|RP11-61I13.3_ENST00000437947.1_RNA|DAAM2_ENST00000538976.1_Missense_Mutation_p.V909A|RP11-61I13.3_ENST00000606829.1_RNA|DAAM2_ENST00000274867.4_Missense_Mutation_p.V910A|RP11-61I13.3_ENST00000420293.1_RNA			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	910	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				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)					GACAAGTTTGTCCCTGTCATG	0.582																																																0													42	45	44					6																	39867902		2026	4169	6195	SO:0001583	missense	23500			AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.2729T>C	6.37:g.39867902T>C	ENSP00000381876:p.Val910Ala		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	ENST00000398904.2	37	CCDS56426.1	.	.	.	.	.	.	.	.	.	.	T	15.56	2.870333	0.51588	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	T;T;T	0.18174	2.23;2.23;2.23	5.13	5.13	0.70059	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.240484	0.34133	N	0.004225	T	0.16300	0.0392	M	0.65677	2.01	0.80722	D	1	B;B	0.30439	0.055;0.279	B;B	0.38712	0.089;0.28	T	0.02232	-1.1191	10	0.66056	D	0.02	.	14.7529	0.69540	0.0:0.0:0.0:1.0	.	909;910	G5EA45;Q86T65	.;DAAM2_HUMAN	A	910;910;909	ENSP00000274867:V910A;ENSP00000381876:V910A;ENSP00000437808:V909A	ENSP00000274867:V910A	V	+	2	0	DAAM2	39975880	1.000000	0.71417	1.000000	0.80357	0.605000	0.37080	6.019000	0.70818	2.154000	0.67381	0.459000	0.35465	GTC		0.582	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1			C	39867902	T	C	39867902	3	2	705	1	0	0	0	0	1	0	0	0	4218	1667	58	3	2812	3	DAAM2	6	39867902	Missense_Mutation	SNP	T	TCGA-KL-8336-01A-11D-2310-10	8913012	39867902	131247165	23	39275											
HSP90AB1	3326	mdanderson.org	37	6	44221047	44221047	+	Missense_Mutation	SNP	C	C	T	rs61729441		TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr6:44221047C>T	ENST00000371554.1	+	11	2211	c.1997C>T	c.(1996-1998)tCt>tTt	p.S666F	HSP90AB1_ENST00000353801.3_Missense_Mutation_p.S666F|HSP90AB1_ENST00000371646.5_Missense_Mutation_p.S666F|MIR4647_ENST00000583964.1_RNA|SLC35B2_ENST00000495706.1_5'Flank			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	666					axon guidance (GO:0007411)|cellular response to interleukin-4 (GO:0071353)|cellular response to organic cyclic compound (GO:0071407)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|placenta development (GO:0001890)|positive regulation of cell size (GO:0045793)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein folding (GO:0006457)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to salt stress (GO:0009651)|response to unfolded protein (GO:0006986)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP binding (GO:0002135)|dATP binding (GO:0032564)|double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|poly(A) RNA binding (GO:0044822)|TPR domain binding (GO:0030911)|UTP binding (GO:0002134)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTGCTATCTTCTGGCTTTTCC	0.532																																																0													332	336	335					6																	44221047		2203	4300	6503	SO:0001583	missense	3326			AF275719	CCDS4909.1	6p12	2011-09-02	2006-02-24	2006-02-24	ENSG00000096384	ENSG00000096384		"Heat shock proteins / HSPC"	5258	protein-coding gene	gene with protein product		140572	"heat shock 90kD protein 1, beta", "heat shock 90kDa protein 1, beta"	HSPC2, HSPCB		2768249, 16269234	Standard	NM_001271969		Approved		uc031sor.1	P08238	OTTHUMG00000014761	ENST00000371554.1:c.1997C>T	6.37:g.44221047C>T	ENSP00000360609:p.Ser666Phe		B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Missense_Mutation	SNP	ENST00000371554.1	37	CCDS4909.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.868141	0.51588	.	.	ENSG00000096384	ENST00000371646;ENST00000353801;ENST00000371554	T;T;T	0.17854	2.25;2.25;2.25	4.56	4.56	0.56223	.	0.000000	0.64402	U	0.000002	T	0.57403	0.2051	H	0.99104	4.43	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	0.78750	-0.2082	10	0.87932	D	0	-12.9647	17.6805	0.88241	0.0:1.0:0.0:0.0	rs61729441	628;656;666	B4DMA2;B4DGL0;P08238	.;.;HS90B_HUMAN	F	666	ENSP00000360709:S666F;ENSP00000325875:S666F;ENSP00000360609:S666F	ENSP00000325875:S666F	S	+	2	0	HSP90AB1	44329025	1.000000	0.71417	0.209000	0.23619	0.048000	0.14542	7.779000	0.85648	2.265000	0.75225	0.508000	0.49915	TCT		0.532	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040730.1	NM_007355		T	44221047	C	T	44221047	3	4	705	1	0	0	0	0	1	0	0	0	7404	913	32	2	2035	2	HSP90AB1	6	44221047	Missense_Mutation	SNP	C	TCGA-KL-8336-01A-11D-2310-10	4353145	44221047	126894020	24	39276											
ZNF12	7559	broad.mit.edu	37	7	6732196	6732196	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr7:6732196T>C	ENST00000405858.1	-	5	918	c.377A>G	c.(376-378)aAc>aGc	p.N126S	AC073343.13_ENST00000366167.2_RNA|AC073343.2_ENST00000577401.1_RNA|ZNF12_ENST00000342651.5_Intron|ZNF12_ENST00000404360.1_Intron	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	126					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		AGGAACAGGGTTCGTTTCTAC	0.373																																																0													192	187	189					7																	6732196		1837	4087	5924	SO:0001583	missense	7559			X52334, AB021643	CCDS47538.1, CCDS47539.1	7p21.1	2013-01-08	2005-06-09		ENSG00000164631	ENSG00000164631		"Zinc fingers, C2H2-type", "-"	12902	protein-coding gene	gene with protein product		194536	"zinc finger protein 325"	ZNF325			Standard	NM_016265		Approved	KOX3, GIOT-3	uc003sqt.1	P17014	OTTHUMG00000151910	ENST00000405858.1:c.377A>G	7.37:g.6732196T>C	ENSP00000385939:p.Asn126Ser		A8MYC4|A8WFQ8|B2RNQ7|B4DF45|Q6N016|Q8NHZ0|Q9H9P0|Q9ULZ6	Missense_Mutation	SNP	ENST00000405858.1	37	CCDS47538.1	.	.	.	.	.	.	.	.	.	.	T	0.124	-1.121875	0.01785	.	.	ENSG00000164631	ENST00000405858;ENST00000399476;ENST00000330442	T	0.05199	3.48	4.45	-1.97	0.07503	.	0.454658	0.18758	N	0.131981	T	0.02610	0.0079	N	0.11698	0.16	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46373	-0.9196	10	0.02654	T	1	.	9.7496	0.40468	0.0:0.4855:0.0:0.5145	.	126	P17014	ZNF12_HUMAN	S	126;184;90	ENSP00000385939:N126S	ENSP00000331039:N90S	N	-	2	0	ZNF12	6698721	.	.	0.000000	0.03702	0.007000	0.05969	.	.	-0.330000	0.08514	0.528000	0.53228	AAC		0.373	ZNF12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324373.2	NM_016265		C	6732196	T	C	6732196	3	2	705	1	0	0	0	0	1	0	0	0	17723	1725	60	3	1720	3	ZNF12	7	6732196	Missense_Mutation	SNP	T	TCGA-KL-8336-01A-11D-2310-10		6732196	152406467	25	39277											
HIP1	3092	hgsc.bcm.edu	37	7	75228522	75228522	+	Missense_Mutation	SNP	A	A	G	rs202058558|rs146838091		TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr7:75228522A>G	ENST00000336926.6	-	2	190	c.164T>C	c.(163-165)gTa>gCa	p.V55A	HIP1_ENST00000434438.2_Missense_Mutation_p.V55A	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	55	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.				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)	p.V55E(1)		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						TTTTTCCTTTACAGCCACTTC	0.502			T	PDGFRB	CMML																																		Dom	yes		7	7q11.23	3092	huntingtin interacting protein 1		L	1	Substitution - Missense(1)	lung(1)											158	157	157					7																	75228522		2203	4300	6503	SO:0001583	missense	3092			AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.164T>C	7.37:g.75228522A>G	ENSP00000336747:p.Val55Ala		B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Missense_Mutation	SNP	ENST00000336926.6	37	CCDS34669.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.591713	0.86953	.	.	ENSG00000127946	ENST00000336926;ENST00000434438;ENST00000420909	T;T;T	0.30981	1.51;1.51;1.51	5.13	5.13	0.70059	ENTH/VHS (2);ANTH (1);Epsin-like, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.43010	0.1228	L	0.38953	1.18	0.58432	D	0.999999	D	0.89917	1.0	D	0.77557	0.99	T	0.13124	-1.0521	10	0.21014	T	0.42	-21.9336	14.2644	0.66107	1.0:0.0:0.0:0.0	.	55	O00291	HIP1_HUMAN	A	55;55;26	ENSP00000336747:V55A;ENSP00000410300:V55A;ENSP00000414280:V26A	ENSP00000336747:V55A	V	-	2	0	HIP1	75066458	1.000000	0.71417	0.992000	0.48379	0.989000	0.77384	8.757000	0.91657	2.154000	0.67381	0.459000	0.35465	GTA		0.502	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	NM_005338		G	75228522	A	G	75228522	3	3	705	1	0	0	0	0	1	0	0	0	7116	391	14	3	3069	3	HIP1	7	75228522	Missense_Mutation	SNP	A	TCGA-KL-8336-01A-11D-2310-10	68496326	75228522	83910141	26	39278											
CROT	54677	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	7	87006732	87006732	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr7:87006732C>T	ENST00000331536.3	+	10	1129	c.944C>T	c.(943-945)tCc>tTc	p.S315F	CROT_ENST00000442291.1_Missense_Mutation_p.S315F|CROT_ENST00000419147.2_Missense_Mutation_p.S343F	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	315					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)	AACTTGATTTCCTTTTCTAAT	0.294																																																0													122	129	127					7																	87006732		2203	4300	6503	SO:0001583	missense	54677				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.944C>T	7.37:g.87006732C>T	ENSP00000331981:p.Ser315Phe		A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	Missense_Mutation	SNP	ENST00000331536.3	37	CCDS5604.1	.	.	.	.	.	.	.	.	.	.	C	7.739	0.700957	0.15172	.	.	ENSG00000005469	ENST00000419147;ENST00000331536;ENST00000442291	D;D;D	0.89343	-2.5;-2.5;-2.5	6.17	6.17	0.99709	.	0.460969	0.26673	N	0.023082	D	0.82967	0.5152	L	0.31065	0.9	0.31304	N	0.687954	B;B	0.22276	0.011;0.067	B;B	0.23150	0.017;0.044	T	0.80632	-0.1296	10	0.59425	D	0.04	-6.977	11.7019	0.51575	0.0:0.8958:0.0:0.1042	.	343;315	E7EQF2;Q9UKG9	.;OCTC_HUMAN	F	343;315;315	ENSP00000413575:S343F;ENSP00000331981:S315F;ENSP00000411983:S315F	ENSP00000331981:S315F	S	+	2	0	CROT	86844668	0.782000	0.28689	1.000000	0.80357	0.996000	0.88848	1.675000	0.37555	2.941000	0.99782	0.655000	0.94253	TCC		0.294	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253485.1	NM_021151		T	87006732	C	T	87006732	3	4	705	1	0	0	0	0	1	0	0	0	3896	855	30	2	1062	2	CROT	7	87006732	Missense_Mutation	SNP	C	TCGA-KL-8336-01A-11D-2310-10	11778210	87006732	72131931	27	39279											
MUC17	140453	bcgsc.ca	37	7	100677833	100677833	+	Missense_Mutation	SNP	C	C	A			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr7:100677833C>A	ENST00000306151.4	+	3	3200	c.3136C>A	c.(3136-3138)Cgt>Agt	p.R1046S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1046	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)					TCCATTAACACGTATGCCTGT	0.507																																																0													524	402	443					7																	100677833		2203	4300	6503	SO:0001583	missense	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.3136C>A	7.37:g.100677833C>A	ENSP00000302716:p.Arg1046Ser		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	A	1.205	-0.631341	0.03584	.	.	ENSG00000169876	ENST00000306151	T	0.02787	4.16	0.74	-1.48	0.08745	.	.	.	.	.	T	0.01029	0.0034	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43196	-0.9406	9	0.07990	T	0.79	.	0.3405	0.00332	0.4111:0.2076:0.1754:0.2059	.	1046	Q685J3	MUC17_HUMAN	S	1046	ENSP00000302716:R1046S	ENSP00000302716:R1046S	R	+	1	0	MUC17	100464553	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-4.689000	0.00198	-2.469000	0.00531	-1.596000	0.00833	CGT		0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		A	100677833	C	A	100677833	3	1	705	1	0	0	0	0	1	0	0	0	9976	536	19	4	3146	4	MUC17	7	100677833	Missense_Mutation	SNP	C	TCGA-KL-8336-01A-11D-2310-10	13671101	100677833	58460830	28	39280			1	74		4	4	4115	N	G_C_A	1.389192e-07
MUC17	140453	mdanderson.org	37	7	100678932	100678932	+	Missense_Mutation	SNP	A	A	G	rs114941002		TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr7:100678932A>G	ENST00000306151.4	+	3	4299	c.4235A>G	c.(4234-4236)gAg>gGg	p.E1412G		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1412	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)					GTCAGTTCTGAGGCTAGCACC	0.502																																																0													272	277	275					7																	100678932		2203	4300	6503	SO:0001583	missense	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.4235A>G	7.37:g.100678932A>G	ENSP00000302716:p.Glu1412Gly		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	a	1.916	-0.449416	0.04572	.	.	ENSG00000169876	ENST00000306151	T	0.02737	4.18	0.838	-0.578	0.11724	.	.	.	.	.	T	0.01592	0.0051	N	0.17082	0.46	0.09310	N	1	B	0.27765	0.188	B	0.19946	0.027	T	0.48502	-0.9030	9	0.23891	T	0.37	.	3.0434	0.06146	0.6909:0.0:0.3091:0.0	.	1412	Q685J3	MUC17_HUMAN	G	1412	ENSP00000302716:E1412G	ENSP00000302716:E1412G	E	+	2	0	MUC17	100465652	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.362000	0.07602	-0.153000	0.11137	0.113000	0.15668	GAG		0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		G	100678932	A	G	100678932	3	3	705	1	0	0	0	0	1	0	0	0	9976	304	11	3	4245	3	MUC17	7	100678932	Missense_Mutation	SNP	A	TCGA-KL-8336-01A-11D-2310-10	1099	100678932	58459731	29	39281			1	74		4	4	4115	N	G_C_A	1.389192e-07
MUC17	140453	mdanderson.org	37	7	100681211	100681211	+	Missense_Mutation	SNP	G	G	C	rs147094151	byFrequency	TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr7:100681211G>C	ENST00000306151.4	+	3	6578	c.6514G>C	c.(6514-6516)Gtg>Ctg	p.V2172L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2172	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)					CAGCACCACAGTGGTGGCCAG	0.468																																																0								C	LEU/VAL	33,4373		0,33,2170	246	241	243		6514	-1.4	0	7	dbSNP_134	243	373,8227		6,361,3933	no	missense	MUC17	NM_001040105.1	32	6,394,6103	CC,CG,GG		4.3372,0.749,3.1216	benign	2172/4494	100681211	406,12600	2203	4300	6503	SO:0001583	missense	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.6514G>C	7.37:g.100681211G>C	ENSP00000302716:p.Val2172Leu		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	N	0.655	-0.807913	0.02819	0.00749	0.043372	ENSG00000169876	ENST00000306151	T	0.02446	4.29	0.683	-1.37	0.09056	.	.	.	.	.	T	0.00328	0.0010	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44667	-0.9313	9	0.24483	T	0.36	.	3.5846	0.07966	0.3877:0.2157:0.3965:0.0	.	2172	Q685J3	MUC17_HUMAN	L	2172	ENSP00000302716:V2172L	ENSP00000302716:V2172L	V	+	1	0	MUC17	100467931	.	.	0.000000	0.03702	0.000000	0.00434	.	.	-2.419000	0.00565	-1.314000	0.01303	GTG		0.468	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		C	100681211	G	C	100681211	3	2	705	1	0	0	0	0	1	0	0	0	9976	1029	36	4	6524	4	MUC17	7	100681211	Missense_Mutation	SNP	G	TCGA-KL-8336-01A-11D-2310-10	2279	100681211	58457452	30	39282			1	74		4	4	4115	N	G_C_A	1.389192e-07
MUC17	140453	mdanderson.org	37	7	100681947	100681947	+	Missense_Mutation	SNP	A	A	T	rs139220229		TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr7:100681947A>T	ENST00000306151.4	+	3	7314	c.7250A>T	c.(7249-7251)cAt>cTt	p.H2417L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2417	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)					GCTAGCACCCATTCCACAACT	0.507																																																0													386	369	375					7																	100681947		2203	4300	6503	SO:0001583	missense	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.7250A>T	7.37:g.100681947A>T	ENSP00000302716:p.His2417Leu		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	N	1.961	-0.438892	0.04636	.	.	ENSG00000169876	ENST00000306151	T	0.02472	4.28	1.43	0.404	0.16355	.	.	.	.	.	T	0.00998	0.0033	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47774	-0.9091	9	0.11485	T	0.65	.	3.3547	0.07164	0.245:0.5788:0.0:0.1763	.	2417	Q685J3	MUC17_HUMAN	L	2417	ENSP00000302716:H2417L	ENSP00000302716:H2417L	H	+	2	0	MUC17	100468667	0.003000	0.15002	0.000000	0.03702	0.002000	0.02628	0.019000	0.13444	-0.658000	0.05366	-1.625000	0.00788	CAT		0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		T	100681947	A	T	100681947	3	4	705	1	0	0	0	0	1	0	0	0	9976	217	8	5	7260	5	MUC17	7	100681947	Missense_Mutation	SNP	A	TCGA-KL-8336-01A-11D-2310-10	736	100681947	58456716	31	39283			1	74		4	4	4115	N	G_C_A	1.389192e-07
LOC441294	441294	broad.mit.edu	37	7	143268925	143268926	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr7:143268925_143268926insC	ENST00000420911.2	+	1	32_33	c.15_16insC	c.(16-18)gctfs	p.A6fs	RNU6-162P_ENST00000516228.1_RNA	NM_001008747.1	NP_001008747.1	A4D2H0	CTGEF_HUMAN	CTAGE family, member 15	6						integral component of membrane (GO:0016021)											AGGAGCCCGGTGCTACCCCTCA	0.594																																																0																																										SO:0001589	frameshift_variant	441294				CCDS64788.1	7q35	2013-02-25	2013-02-25	2013-02-25	ENSG00000176227	ENSG00000271079			37295	protein-coding gene	gene with protein product			"CTAGE family, member 15, pseudogene"	CTAGE15P			Standard	NM_001008747		Approved		uc011kth.3	A4D2H0	OTTHUMG00000153233	Exception_encountered	7.37:g.143268925_143268926insC	ENSP00000474204:p.Ala6fs		A6H8Z8	Frame_Shift_Ins	INS	ENST00000420911.2	37																																																																																					0.594	CTAGE15-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000330280.2	NM_001008747		C	143268926	-	C	143268925	7	5	705	1	0	1	1	0	0	0	0	0	8882	1683	59	0	17	0	LOC441294	7	143268925	Frame_Shift_Ins	INS	-	TCGA-KL-8336-01A-11D-2310-10	42586978	143268925	15869738	32	39284											
SLC4A2	6522	broad.mit.edu	37	7	150763999	150763999	+	Silent	SNP	T	T	C			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr7:150763999T>C	ENST00000485713.1	+	7	1925	c.885T>C	c.(883-885)ggT>ggC	p.G295G	SLC4A2_ENST00000310317.5_Silent_p.G213G|SLC4A2_ENST00000392826.2_Silent_p.G286G|SLC4A2_ENST00000461735.1_Silent_p.G281G|SLC4A2_ENST00000413384.2_Silent_p.G295G	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	295	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)		ATGCCAAAGGTTCCACACAGA	0.657																																																0													51	56	55					7																	150763999		2203	4300	6503	SO:0001819	synonymous_variant	6522				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.885T>C	7.37:g.150763999T>C			B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Silent	SNP	ENST00000485713.1	37	CCDS5917.1																																																																																				0.657	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1	NM_003040		C	150763999	T	C	150763999	2	2	705	1	0	0	0	0	0	0	0	1	14660	1712	60	3		3	SLC4A2	7	150763999	Silent	SNP	T	TCGA-KL-8336-01A-11D-2310-10	7495074	150763999	8374664	33	39285											
LRRC24	441381	ucsc.edu	37	8	145748410	145748410	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr8:145748410A>G	ENST00000529415.2	-	5	1108	c.991T>C	c.(991-993)Ttc>Ctc	p.F331L	LRRC14_ENST00000528528.1_3'UTR|LRRC24_ENST00000533758.1_Missense_Mutation_p.F328L|LRRC14_ENST00000292524.1_3'UTR			Q50LG9	LRC24_HUMAN	leucine rich repeat containing 24	331	Ig-like C2-type.					integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(1)|lung(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)			TTGCTGAGGAAGAGCATGCCG	0.721																																																0													20	23	22					8																	145748410		2008	3952	5960	SO:0001583	missense	441381			AB178281	CCDS34969.1	8q24.3	2013-01-11			ENSG00000254402	ENSG00000254402		"Immunoglobulin superfamily / I-set domain containing"	28947	protein-coding gene	gene with protein product						7584026	Standard	NM_001024678		Approved	LRRC14OS	uc003zdm.3	Q50LG9	OTTHUMG00000165180	ENST00000529415.2:c.991T>C	8.37:g.145748410A>G	ENSP00000434849:p.Phe331Leu			Missense_Mutation	SNP	ENST00000529415.2	37	CCDS34969.1	.	.	.	.	.	.	.	.	.	.	A	33	5.203611	0.95033	.	.	ENSG00000254402	ENST00000529415;ENST00000533758	T;T	0.66280	-0.2;-0.2	4.73	4.73	0.59995	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.106723	0.64402	D	0.000005	T	0.61123	0.2322	N	0.21324	0.655	0.51012	D	0.999903	P;D	0.56968	0.952;0.978	P;P	0.57911	0.652;0.829	T	0.61973	-0.6952	10	0.41790	T	0.15	.	12.2096	0.54371	1.0:0.0:0.0:0.0	.	328;331	G3V1D8;Q50LG9	.;LRC24_HUMAN	L	331;328	ENSP00000434849:F331L;ENSP00000435653:F328L	ENSP00000434849:F331L	F	-	1	0	LRRC24	145719218	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.396000	0.59684	1.992000	0.58205	0.459000	0.35465	TTC		0.721	LRRC24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382501.2	NM_001024678		G	145748410	A	G	145748410	3	3	705	1	0	0	0	0	1	0	0	0	8981	72	3	3	554	3	LRRC24	8	145748410	Missense_Mutation	SNP	A	TCGA-KL-8336-01A-11D-2310-10		145748410	615612	34	39286											
SMARCA2	6595	mdanderson.org	37	9	2039818	2039818	+	Silent	SNP	A	A	G			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr9:2039818A>G	ENST00000382203.1	+	4	917	c.708A>G	c.(706-708)caA>caG	p.Q236Q	SMARCA2_ENST00000357248.2_Silent_p.Q236Q|SMARCA2_ENST00000382194.1_Silent_p.Q236Q|SMARCA2_ENST00000349721.2_Silent_p.Q236Q|SMARCA2_ENST00000491574.1_3'UTR|RP11-264I13.2_ENST00000426860.1_RNA			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	236	Poly-Gln.				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)		agcagcagcaacagcagccgc	0.587																																																0													11	13	13					9																	2039818		2170	4235	6405	SO:0001819	synonymous_variant	6595			D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.708A>G	9.37:g.2039818A>G			B1ALG3|B1ALG4|D3DRH4|D3DRH5	Silent	SNP	ENST00000382203.1	37	CCDS34977.1																																																																																				0.587	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		G	2039818	A	G	2039818	2	3	705	1	0	0	0	0	0	0	0	1	14775	40	2	3		3	SMARCA2	9	2039818	Silent	SNP	A	TCGA-KL-8336-01A-11D-2310-10		2039818	139173613	35	39287											
BICD2	23299	ucsc.edu	37	9	95526797	95526797	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr9:95526797T>C	ENST00000375512.3	-	1	297	c.230A>G	c.(229-231)cAg>cGg	p.Q77R	BICD2_ENST00000356884.6_Missense_Mutation_p.Q77R	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	77					cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						CTCCTTGAGCTGCTCCATCTC	0.697																																																0													13	8	9					9																	95526797		2017	3948	5965	SO:0001583	missense	23299			AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.230A>G	9.37:g.95526797T>C	ENSP00000364662:p.Gln77Arg		O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Missense_Mutation	SNP	ENST00000375512.3	37	CCDS6700.1	.	.	.	.	.	.	.	.	.	.	.	16.25	3.070864	0.55539	.	.	ENSG00000185963	ENST00000356884;ENST00000375512	T;T	0.47177	0.85;0.86	4.88	3.72	0.42706	.	0.137012	0.49916	D	0.000130	T	0.42539	0.1207	M	0.64404	1.975	0.38996	D	0.959241	B;B	0.12013	0.005;0.001	B;B	0.11329	0.006;0.002	T	0.33033	-0.9884	10	0.33141	T	0.24	-35.5025	9.3407	0.38079	0.1607:0.0:0.0:0.8393	.	77;77	Q8TD16-2;Q8TD16	.;BICD2_HUMAN	R	77	ENSP00000349351:Q77R;ENSP00000364662:Q77R	ENSP00000349351:Q77R	Q	-	2	0	BICD2	94566618	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	3.841000	0.55850	0.792000	0.33850	0.374000	0.22700	CAG		0.697	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055508.1	NM_015250		C	95526797	T	C	95526797	3	2	705	1	0	0	0	0	1	0	0	0	1429	1580	55	3	2375	3	BICD2	9	95526797	Missense_Mutation	SNP	T	TCGA-KL-8336-01A-11D-2310-10	93486979	95526797	45686634	36	39288											
GSN	2934	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	9	124089710	124089710	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr9:124089710T>C	ENST00000373818.4	+	13	1934	c.1865T>C	c.(1864-1866)cTc>cCc	p.L622P	GSN_ENST00000373806.1_Missense_Mutation_p.L47P|GSN_ENST00000373823.3_Missense_Mutation_p.L571P|GSN_ENST00000373808.2_Missense_Mutation_p.L571P|GSN_ENST00000394353.2_Missense_Mutation_p.L582P|GSN_ENST00000436847.1_Missense_Mutation_p.L582P|GSN_ENST00000412819.1_Missense_Mutation_p.L571P|GSN_ENST00000449733.1_Missense_Mutation_p.L571P|GSN_ENST00000545652.1_Missense_Mutation_p.L579P|GSN_ENST00000373807.1_Missense_Mutation_p.L353P|GSN_ENST00000341272.2_Missense_Mutation_p.L571P	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin	622	Actin-binding, Ca-sensitive. {ECO:0000255}.				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						CAGGAGCTGCTCAGGGTGCTG	0.642																																																0													20	22	21					9																	124089710		2203	4298	6501	SO:0001583	missense	2934			X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"amyloidosis, Finnish type"	137350	"gelsolin (amyloidosis, Finnish type)"			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373818.4:c.1865T>C	9.37:g.124089710T>C	ENSP00000362924:p.Leu622Pro		A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	Missense_Mutation	SNP	ENST00000373818.4	37	CCDS6828.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.366894	0.82463	.	.	ENSG00000148180	ENST00000373823;ENST00000436847;ENST00000394353;ENST00000449733;ENST00000412819;ENST00000341272;ENST00000373808;ENST00000394352;ENST00000456109;ENST00000545652;ENST00000373818;ENST00000373807;ENST00000373806;ENST00000373805	T;T;T;T;T;T;T;T;T;T;T	0.56275	0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.74	5.86	5.86	0.93980	Gelsolin domain (1);	0.235112	0.44688	D	0.000424	T	0.71492	0.3346	M	0.74881	2.28	0.80722	D	1	D;D;D;D;D	0.71674	0.972;0.988;0.983;0.972;0.998	P;D;D;P;D	0.66716	0.822;0.91;0.911;0.822;0.946	T	0.74070	-0.3783	10	0.59425	D	0.04	-18.3083	15.7408	0.77894	0.0:0.0:0.0:1.0	.	595;579;582;353;622	B7Z9A0;F5H1A8;B7Z373;Q5T0H9;P06396	.;.;.;.;GELS_HUMAN	P	571;582;582;571;571;571;571;555;545;579;622;353;47;47	ENSP00000362929:L571P;ENSP00000411293:L582P;ENSP00000377882:L582P;ENSP00000409358:L571P;ENSP00000416586:L571P;ENSP00000340888:L571P;ENSP00000362914:L571P;ENSP00000445823:L579P;ENSP00000362924:L622P;ENSP00000362913:L353P;ENSP00000362912:L47P	ENSP00000340888:L571P	L	+	2	0	GSN	123129531	1.000000	0.71417	0.971000	0.41717	0.962000	0.63368	5.376000	0.66178	2.367000	0.80283	0.528000	0.53228	CTC		0.642	GSN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053861.1	NM_000177		C	124089710	T	C	124089710	3	2	705	1	0	0	0	0	1	0	0	0	6827	1551	54	3	1943	3	GSN	9	124089710	Missense_Mutation	SNP	T	TCGA-KL-8336-01A-11D-2310-10	28562913	124089710	17123721	37	39289											
DNAJB12	54788	bcgsc.ca	37	10	74095605	74095605	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr10:74095605C>T	ENST00000444643.2	-	8	1423	c.1091G>A	c.(1090-1092)aGc>aAc	p.S364N	DNAJB12_ENST00000338820.3_Missense_Mutation_p.S398N|DNAJB12_ENST00000461919.1_Missense_Mutation_p.S159N|DNAJB12_ENST00000394903.2_Missense_Mutation_p.S398N			Q9NXW2	DJB12_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 12	364						integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|skin(1)	4						TGACAGTCGGCTGCAGCTGGG	0.602																																																0													111	94	100					10																	74095605		2203	4300	6503	SO:0001583	missense	54788			AK000034	CCDS7316.2	10q22	2011-09-02			ENSG00000148719	ENSG00000148719		"Heat shock proteins / DNAJ (HSP40)"	14891	protein-coding gene	gene with protein product		608376				11147971	Standard	NM_001002762		Approved	DJ10, FLJ20027	uc001jta.2	Q9NXW2	OTTHUMG00000018436	ENST00000444643.2:c.1091G>A	10.37:g.74095605C>T	ENSP00000403313:p.Ser364Asn		B7Z7I3|Q9H6H0	Missense_Mutation	SNP	ENST00000444643.2	37		.	.	.	.	.	.	.	.	.	.	C	13.32	2.203491	0.38905	.	.	ENSG00000148719	ENST00000338820;ENST00000394903;ENST00000444643	T;T;T	0.45276	0.9;0.9;0.9	5.29	-4.69	0.03299	Domain of unknown function DUF1977, DnaJ-like (1);	0.575847	0.20614	N	0.088920	T	0.28599	0.0708	L	0.31926	0.97	0.25879	N	0.983617	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.004	T	0.11299	-1.0593	10	0.27082	T	0.32	-11.4477	17.147	0.86768	0.0:0.7521:0.0:0.2479	.	364;364	Q9NXW2-2;Q9NXW2	.;DJB12_HUMAN	N	398;398;364	ENSP00000345575:S398N;ENSP00000378363:S398N;ENSP00000403313:S364N	ENSP00000345575:S398N	S	-	2	0	DNAJB12	73765611	0.996000	0.38824	0.966000	0.40874	0.993000	0.82548	0.341000	0.19909	-0.750000	0.04740	0.561000	0.74099	AGC		0.602	DNAJB12-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048581.2			T	74095605	C	T	74095605	3	4	705	1	0	0	0	0	1	0	0	0	4619	797	28	2	40	2	DNAJB12	10	74095605	Missense_Mutation	SNP	C	TCGA-KL-8336-01A-11D-2310-10		74095605	61439142	38	39290											
USP54	159195	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	10	75331190	75331190	+	Missense_Mutation	SNP	A	A	C			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr10:75331190A>C	ENST00000339859.4	-	3	329	c.229T>G	c.(229-231)Tgc>Ggc	p.C77G	USP54_ENST00000428547.1_Missense_Mutation_p.C77G|USP54_ENST00000408019.1_Missense_Mutation_p.C77G|USP54_ENST00000319786.7_Missense_Mutation_p.C77G|USP54_ENST00000394811.2_5'UTR			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)					TTGAGAGCGCAAAAGATGCAG	0.428																																					Colon(195;880 2046 8854 25025 38456)											0													120	108	111					10																	75331190		1900	4131	6031	SO:0001583	missense	159195			AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"Ubiquitin-specific peptidases"	23513	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 29", "ubiquitin specific protease 54"	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.229T>G	10.37:g.75331190A>C	ENSP00000345216:p.Cys77Gly		A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Missense_Mutation	SNP	ENST00000339859.4	37	CCDS7329.2	.	.	.	.	.	.	.	.	.	.	A	19.41	3.822644	0.71028	.	.	ENSG00000166348	ENST00000339859;ENST00000408019;ENST00000428547;ENST00000319786;ENST00000451492;ENST00000413442;ENST00000433394	T;T;T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54;1.54;3.37	5.61	5.61	0.85477	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	U	0.000000	T	0.60143	0.2246	M	0.82630	2.6	0.80722	D	1	D;D;D	0.89917	1.0;0.996;1.0	D;D;D	0.91635	0.998;0.918;0.999	T	0.65936	-0.6047	10	0.72032	D	0.01	-6.3501	16.0994	0.81158	1.0:0.0:0.0:0.0	.	77;77;77	B7Z7X1;Q70EL1-6;Q70EL1	.;.;UBP54_HUMAN	G	77	ENSP00000345216:C77G;ENSP00000386080:C77G;ENSP00000408714:C77G;ENSP00000326547:C77G;ENSP00000402435:C77G;ENSP00000404710:C77G;ENSP00000407245:C77G	ENSP00000326547:C77G	C	-	1	0	USP54	75001196	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.855000	0.92236	2.261000	0.74972	0.533000	0.62120	TGC		0.428	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316563.2	NM_152586		C	75331190	A	C	75331190	3	2	705	1	0	0	0	0	1	0	0	0	17090	130	5	5	4909	5	USP54	10	75331190	Missense_Mutation	SNP	A	TCGA-KL-8336-01A-11D-2310-10	1235585	75331190	60203557	39	39291											
PTEN	5728	broad.mit.edu;hgsc.bcm.edu	37	10	89711960	89711962	+	In_Frame_Del	DEL	TGT	TGT	-	rs568851024	byFrequency	TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	TGT	TGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr10:89711960_89711962delTGT	ENST00000371953.3	+	6	1935_1937	c.578_580delTGT	c.(577-582)ctgttg>ctg	p.193_194LL>L	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	193	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.?(4)|p.G165fs*9(3)|p.Y27fs*1(2)|p.G165_*404del(1)|p.L193P(1)|p.V191fs*7(1)|p.L193del(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)		CCAGTGGCACTGTTGTTTCACAA	0.399		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	phosphatase and tensin homolog gene		"L, E, M, O"	55	Whole gene deletion(37)|Deletion - Frameshift(11)|Unknown(4)|Deletion - In frame(2)|Substitution - Missense(1)	central_nervous_system(16)|prostate(16)|skin(8)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)																																								SO:0001651	inframe_deletion	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.578_580delTGT	10.37:g.89711963_89711965delTGT	ENSP00000361021:p.Leu194del		B2R904|F2YHV0|O00633|O02679|Q6ICT7	In_Frame_Del	DEL	ENST00000371953.3	37	CCDS31238.1																																																																																				0.399	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		-	89711962	TGT	-	89711960	7	5	705	1	0	1	0	1	0	0	0	0	12743	1580	55	0	600	0	PTEN	10	89711960	In_Frame_Del	DEL	TGT	TCGA-KL-8336-01A-11D-2310-10	14380770	89711960	45822787	40	39292	323	2									
PTEN	5728	bcgsc.ca	37	10	89711961	89711963	+	In_Frame_Del	DEL	TGT	TGT	-	rs568851024	byFrequency	TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	TGT	TGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr10:89711961_89711963delTGT	ENST00000371953.3	+	6	1936_1938	c.579_581delTGT	c.(577-582)cttgtg>ctg	p.V194del	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	194	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.?(4)|p.G165fs*9(3)|p.Y27fs*1(2)|p.G165_*404del(1)|p.V191fs*7(1)|p.L193del(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)		CAGTGGCACTGTTGTTTCACAAG	0.399		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	phosphatase and tensin homolog gene		"L, E, M, O"	54	Whole gene deletion(37)|Deletion - Frameshift(11)|Unknown(4)|Deletion - In frame(2)	prostate(16)|central_nervous_system(15)|skin(8)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)																																								SO:0001651	inframe_deletion	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.579_581delTGT	10.37:g.89711961_89711963delTGT	ENSP00000361021:p.Val194del		B2R904|F2YHV0|O00633|O02679|Q6ICT7	In_Frame_Del	DEL	ENST00000371953.3	37	CCDS31238.1																																																																																				0.399	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		-	89711963	TGT	-	89711961	7	5	705	1	0	1	0	1	0	0	0	0	12743	1364	48	0	601	0	PTEN	10	89711961	In_Frame_Del	DEL	TGT	TCGA-KL-8336-01A-11D-2310-10	1	89711961	45822786	41	39293	323	2									
MUC2	4583	mdanderson.org	37	11	1093274	1093274	+	Missense_Mutation	SNP	C	C	T	rs11245949	byFrequency	TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr11:1093274C>T	ENST00000441003.2	+	30	5120	c.5093C>T	c.(5092-5094)tCg>tTg	p.S1698L	MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000359061.5_Missense_Mutation_p.S1665L|MUC2_ENST00000361558.6_Intron	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				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)	accccaacatcgacacccatc	0.637													N|||	2435	0.486222	0.4826	0.4899	5008	,	,		22392	0.631		0.3608	False		,,,				2504	0.4683															0													129	167	154					11																	1093274		1842	3364	5206	SO:0001583	missense	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.5093C>T	11.37:g.1093274C>T	ENSP00000415183:p.Ser1698Leu		Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	T	1.748	-0.490089	0.04322	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.08370	3.13;3.1	0.851	-1.7	0.08159	.	227.466000	0.04577	U	0.394340	T	0.06005	0.0156	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40979	-0.9534	9	0.30854	T	0.27	.	5.5277	0.16967	0.0:0.5285:0.0:0.4715	rs11245949;rs59265712	1698	E7EUV1	.	L	1698;1665	ENSP00000415183:S1698L;ENSP00000351956:S1665L	ENSP00000351956:S1665L	S	+	2	0	MUC2	1083274	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.256000	0.18351	-1.248000	0.02503	-2.819000	0.00109	TCG		0.637	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		T	1093274	C	T	1093274	3	4	705	1	0	0	0	0	1	0	0	0	9977	893	31	1	5211	1	MUC2	11	1093274	Missense_Mutation	SNP	C	TCGA-KL-8336-01A-11D-2310-10		1093274	133913242	42	39294											
OR52L1	338751	broad.mit.edu;mdanderson.org;bcgsc.ca	37	11	6007311	6007311	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr11:6007311G>A	ENST00000332249.4	-	1	904	c.850C>T	c.(850-852)Cat>Tat	p.H284Y		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, 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)			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)		GGTACATGATGACCAAAGCGG	0.493																																					Melanoma(121;653 1666 10547 22796 51255)											0													106	106	106					11																	6007311		2084	4245	6329	SO:0001583	missense	338751			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.850C>T	11.37:g.6007311G>A	ENSP00000330338:p.His284Tyr		B2RPA6|Q6IFK9	Missense_Mutation	SNP	ENST00000332249.4	37	CCDS44529.1	.	.	.	.	.	.	.	.	.	.	G	10.09	1.253796	0.22965	.	.	ENSG00000183313	ENST00000332249	T	0.37058	1.22	4.1	3.09	0.35607	GPCR, rhodopsin-like superfamily (1);	0.172439	0.28488	N	0.015173	T	0.44993	0.1320	L	0.51853	1.615	0.09310	N	1	P	0.46706	0.883	P	0.54060	0.741	T	0.30268	-0.9984	10	0.87932	D	0	.	12.1823	0.54218	0.0:0.1737:0.8263:0.0	.	284	Q8NGH7	O52L1_HUMAN	Y	284	ENSP00000330338:H284Y	ENSP00000330338:H284Y	H	-	1	0	OR52L1	5963887	0.000000	0.05858	0.423000	0.26634	0.010000	0.07245	0.072000	0.14617	1.987000	0.57996	0.313000	0.20887	CAT		0.493	OR52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383754.1	NM_001005173		A	6007311	G	A	6007311	3	1	705	1	0	0	0	0	1	0	0	0	11127	1290	45	2	143	2	OR52L1	11	6007311	Missense_Mutation	SNP	G	TCGA-KL-8336-01A-11D-2310-10	4914037	6007311	128999205	43	39295											
TRIM3	10612	hgsc.bcm.edu;ucsc.edu	37	11	6477762	6477762	+	Silent	SNP	C	C	A			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr11:6477762C>A	ENST00000525074.1	-	6	1588	c.1194G>T	c.(1192-1194)ctG>ctT	p.L398L	TRIM3_ENST00000536344.1_Silent_p.L279L|TRIM3_ENST00000359518.3_Silent_p.L398L|TRIM3_ENST00000345851.3_Silent_p.L398L|TRIM3_ENST00000537602.1_Silent_p.L320L|TRIM3_ENST00000529058.1_Intron	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	398					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)		CCGAGAGGAGCAGCTCGCCTT	0.672																																					Melanoma(6;5 510 1540 25169 29084)											0													23	20	21					11																	6477762		2198	4292	6490	SO:0001819	synonymous_variant	10612			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.1194G>T	11.37:g.6477762C>A			B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	Silent	SNP	ENST00000525074.1	37	CCDS7764.1																																																																																				0.672	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384224.2	NM_006458		A	6477762	C	A	6477762	2	1	705	1	0	0	0	0	0	0	0	1	16509	697	25	4		4	TRIM3	11	6477762	Silent	SNP	C	TCGA-KL-8336-01A-11D-2310-10	470451	6477762	128528754	44	39296											
LTBP3	4054	hgsc.bcm.edu;mdanderson.org	37	11	65314277	65314277	+	Missense_Mutation	SNP	G	G	C	rs148780991	byFrequency	TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr11:65314277G>C	ENST00000301873.5	-	15	2490	c.2222C>G	c.(2221-2223)gCc>gGc	p.A741G	LTBP3_ENST00000536982.1_Missense_Mutation_p.A367G|LTBP3_ENST00000530785.1_5'Flank|LTBP3_ENST00000532932.1_Missense_Mutation_p.A171G|LTBP3_ENST00000529189.1_5'Flank|LTBP3_ENST00000322147.4_Missense_Mutation_p.A741G	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	741	Cys-rich.				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						ACCGCGACAGGCCCCGCCCCC	0.726													G|||	44	0.00878594	0.0182	0.0101	5008	,	,		8681	0.002		0.0109	False		,,,				2504	0.0															0								G	GLY/ALA,GLY/ALA,GLY/ALA	68,4308		0,68,2120	20	23	22		2222,1871,2222	4.1	1	11	dbSNP_134	22	60,8500		1,58,4221	yes	missense,missense,missense	LTBP3	NM_001130144.2,NM_001164266.1,NM_021070.4	60,60,60	1,126,6341	CC,CG,GG		0.7009,1.5539,0.9895	benign,benign,benign	741/1304,624/1140,741/1257	65314277	128,12808	2188	4280	6468	SO:0001583	missense	4054			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.2222C>G	11.37:g.65314277G>C	ENSP00000301873:p.Ala741Gly		O15107|Q96HB9|Q9H7K2|Q9UFN4	Missense_Mutation	SNP	ENST00000301873.5	37	CCDS44647.1	16	0.007326007326007326	4	0.008130081300813009	4	0.011049723756906077	0	0.0	8	0.010554089709762533	G	12.27	1.887566	0.33348	0.015539	0.007009	ENSG00000168056	ENST00000322147;ENST00000301873;ENST00000532932;ENST00000536982;ENST00000530866;ENST00000527339	T;T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95;1.95	5.0	4.08	0.47627	EGF-like calcium-binding (2);	0.251841	0.39341	N	0.001386	T	0.04092	0.0114	N	0.03209	-0.39	0.23192	N	0.998141	B;B;B;B;B;B	0.29136	0.155;0.089;0.033;0.234;0.089;0.044	B;B;B;B;B;B	0.30029	0.09;0.046;0.041;0.11;0.075;0.077	T	0.29701	-1.0003	10	0.24483	T	0.36	.	9.2867	0.37762	0.1011:0.0:0.8989:0.0	.	652;367;624;741;741;171	E9PKW1;F5GWC4;B9EG76;Q9NS15;Q9NS15-2;E9PJR2	.;.;.;LTBP3_HUMAN;.;.	G	741;741;171;367;652;81	ENSP00000326647:A741G;ENSP00000301873:A741G;ENSP00000435530:A171G;ENSP00000441912:A367G;ENSP00000435276:A652G;ENSP00000432121:A81G	ENSP00000301873:A741G	A	-	2	0	LTBP3	65070853	0.998000	0.40836	1.000000	0.80357	0.962000	0.63368	0.698000	0.25571	1.109000	0.41680	0.449000	0.29647	GCC		0.726	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390538.1	NM_021070		C	65314277	G	C	65314277	3	2	705	1	0	0	0	0	1	0	0	0	9077	1203	42	4	1745	4	LTBP3	11	65314277	Missense_Mutation	SNP	G	TCGA-KL-8336-01A-11D-2310-10	58836515	65314277	69692239	45	39297											
INTS4	92105	mdanderson.org	37	11	77612478	77612478	+	Silent	SNP	T	T	G			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr11:77612478T>G	ENST00000534064.1	-	18	2251	c.2217A>C	c.(2215-2217)cgA>cgC	p.R739R	INTS4_ENST00000535943.1_Silent_p.R114R|AAMDC_ENST00000532481.1_Intron	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	739					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)			CTCGTGTAGTTCGTGCTGTTA	0.408																																																0													214	191	199					11																	77612478		2200	4292	6492	SO:0001819	synonymous_variant	92105			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.2217A>C	11.37:g.77612478T>G			Q2YD62|Q6PJG4|Q7Z4E7|Q96G32|Q96GA1|Q9BRC0	Silent	SNP	ENST00000534064.1	37	CCDS31644.1																																																																																				0.408	INTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390927.1	NM_033547		G	77612478	T	G	77612478	2	3	705	1	0	0	0	0	0	0	0	1	7782	1770	62	5		5	INTS4	11	77612478	Silent	SNP	T	TCGA-KL-8336-01A-11D-2310-10	12298201	77612478	57394038	46	39298											
NARS2	79731	broad.mit.edu;bcgsc.ca	37	11	78277251	78277251	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr11:78277251C>T	ENST00000281038.5	-	4	815	c.440G>A	c.(439-441)tGt>tAt	p.C147Y	NARS2_ENST00000528850.1_5'UTR	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	147					asparaginyl-tRNA aminoacylation (GO:0006421)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	asparagine-tRNA ligase activity (GO:0004816)|ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	GTTAGTCCTACACCTAAAGTG	0.398																																																0													111	108	109					11																	78277251		2200	4291	6491	SO:0001583	missense	79731			BC007800	CCDS8261.1, CCDS58164.1	11q14.1	2011-07-01	2007-02-23		ENSG00000137513	ENSG00000137513	6.1.1.22	"Aminoacyl tRNA synthetases / Class II"	26274	protein-coding gene	gene with protein product	"asparagine tRNA ligase 2, mitochondrial (putative)"	612803				15779907	Standard	NM_024678		Approved	FLJ23441, SLM5	uc001ozi.3	Q96I59	OTTHUMG00000166702	ENST00000281038.5:c.440G>A	11.37:g.78277251C>T	ENSP00000281038:p.Cys147Tyr		G3V178	Missense_Mutation	SNP	ENST00000281038.5	37	CCDS8261.1	.	.	.	.	.	.	.	.	.	.	C	11.11	1.540877	0.27563	.	.	ENSG00000137513	ENST00000281038;ENST00000529880	T;T	0.78816	-1.21;-1.21	5.13	5.13	0.70059	Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.000000	0.85682	D	0.000000	D	0.83982	0.5372	L	0.40543	1.245	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.85672	0.1295	10	0.87932	D	0	-10.5576	17.7175	0.88342	0.0:1.0:0.0:0.0	.	147	Q96I59	SYNM_HUMAN	Y	147	ENSP00000281038:C147Y;ENSP00000432240:C147Y	ENSP00000281038:C147Y	C	-	2	0	NARS2	77954899	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	6.850000	0.75420	2.547000	0.85894	0.655000	0.94253	TGT		0.398	NARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391138.2	NM_024678		T	78277251	C	T	78277251	3	4	705	1	0	0	0	0	1	0	0	0	10173	478	17	2	1037	2	NARS2	11	78277251	Missense_Mutation	SNP	C	TCGA-KL-8336-01A-11D-2310-10	664773	78277251	56729265	47	39299											
DYNC2H1	79659	broad.mit.edu	37	11	103006273	103006273	+	Missense_Mutation	SNP	A	A	T			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr11:103006273A>T	ENST00000375735.2	+	16	2399	c.2255A>T	c.(2254-2256)cAa>cTa	p.Q752L	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.Q752L	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	752	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)		TGGAATCATCAACTGTACAAA	0.348																																																0													78	74	75					11																	103006273		1838	4099	5937	SO:0001583	missense	79659			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.2255A>T	11.37:g.103006273A>T	ENSP00000364887:p.Gln752Leu		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.252082	0.80135	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.35789	1.29;1.3	5.62	5.62	0.85841	.	.	.	.	.	T	0.66228	0.2768	M	0.90082	3.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.69187	-0.5211	9	0.28530	T	0.3	.	15.8286	0.78733	1.0:0.0:0.0:0.0	.	752;752	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	L	752	ENSP00000364887:Q752L;ENSP00000381167:Q752L	ENSP00000364887:Q752L	Q	+	2	0	DYNC2H1	102511483	1.000000	0.71417	0.928000	0.36995	0.794000	0.44872	8.962000	0.93254	2.141000	0.66446	0.460000	0.39030	CAA		0.348	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		T	103006273	A	T	103006273	3	4	705	1	0	0	0	0	1	0	0	0	4848	130	5	5	2317	5	DYNC2H1	11	103006273	Missense_Mutation	SNP	A	TCGA-KL-8336-01A-11D-2310-10	24729022	103006273	32000243	48	39300											
TAS2R43	259289	mdanderson.org	37	12	11244602	11244602	+	Missense_Mutation	SNP	T	T	C	rs11535673		TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr12:11244602T>C	ENST00000531678.1	-	1	310	c.227A>G	c.(226-228)aAt>aGt	p.N76S	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176884.2	NP_795365.2	P59537	T2R43_HUMAN	taste receptor, type 2, member 43	76					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(1)|ovary(1)|prostate(2)|urinary_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		TTCTACACTATTAAAAGCTGG	0.398																																																0													51	44	46					12																	11244602		1916	3972	5888	SO:0001583	missense	259289			AF494237	CCDS53749.1	12p13.2	2012-08-22				ENSG00000255374		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18875	protein-coding gene	gene with protein product		612668				12379855	Standard	NM_176884		Approved	T2R52	uc001qzq.1	P59537		ENST00000531678.1:c.227A>G	12.37:g.11244602T>C	ENSP00000431719:p.Asn76Ser		P59546|Q645X4	Missense_Mutation	SNP	ENST00000531678.1	37	CCDS53749.1	.	.	.	.	.	.	.	.	.	.	-	1.580	-0.531857	0.04112	.	.	ENSG00000255374	ENST00000531678	T	0.36340	1.26	1.97	0.726	0.18248	.	.	.	.	.	T	0.09598	0.0236	N	0.00483	-1.445	0.09310	N	1	B	0.02656	0.0	B	0.12156	0.007	T	0.28744	-1.0034	9	0.30854	T	0.27	.	3.8604	0.08993	0.0:0.2087:0.0:0.7913	.	76	P59537	T2R43_HUMAN	S	76	ENSP00000431719:N76S	ENSP00000431719:N76S	N	-	2	0	TAS2R43	11135869	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	-0.684000	0.05173	0.041000	0.15688	0.155000	0.16302	AAT		0.398	TAS2R43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383561.1	NM_176884		C	11244602	T	C	11244602	3	2	705	1	0	0	0	0	1	0	0	0	15586	1493	52	3	706	3	TAS2R43	12	11244602	Missense_Mutation	SNP	T	TCGA-KL-8336-01A-11D-2310-10		11244602	122607293	49	39301											
KRT84	3890	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	12	52774146	52774146	+	Splice_Site	SNP	C	C	T			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr12:52774146C>T	ENST00000257951.3	-	7	1491		c.e7+1		RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84						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)		AGAGTACTCACCGGCTCTCCT	0.557											OREG0021848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													32	33	33					12																	52774146		2201	4296	6497	SO:0001630	splice_region_variant	3890			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.1424+1G>A	12.37:g.52774146C>T		987	B2RA43|Q6ISB0|Q701L6	Splice_Site	SNP	ENST00000257951.3	37	CCDS8825.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.888892	0.33348	.	.	ENSG00000161849	ENST00000257951	.	.	.	4.89	3.99	0.46301	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.513	0.75798	0.0:0.8617:0.1383:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KRT84	51060413	1.000000	0.71417	0.989000	0.46669	0.293000	0.27360	3.815000	0.55651	1.276000	0.44395	0.655000	0.94253	.		0.557	KRT84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405187.1	NM_033045	Intron	T	52774146	C	T	52774146	5	4	705	1	0	0	0	0	0	0	1	0	8500	521	18	2	389	2	KRT84	12	52774146	Splice_Site	SNP	C	TCGA-KL-8336-01A-11D-2310-10	41529544	52774146	81077749	50	39302											
PPFIA2	8499	broad.mit.edu	37	12	81657079	81657079	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr12:81657079A>G	ENST00000549396.1	-	31	3806	c.3646T>C	c.(3646-3648)Tca>Cca	p.S1216P	PPFIA2_ENST00000549325.1_Missense_Mutation_p.S1201P|PPFIA2_ENST00000407050.4_Missense_Mutation_p.S1115P|PPFIA2_ENST00000541570.2_Missense_Mutation_p.S752P|PPFIA2_ENST00000541017.1_Missense_Mutation_p.S402P|PPFIA2_ENST00000550584.2_Missense_Mutation_p.S1216P|PPFIA2_ENST00000333447.7_Missense_Mutation_p.S1204P|PPFIA2_ENST00000552948.1_Missense_Mutation_p.S1195P|PPFIA2_ENST00000548586.1_Missense_Mutation_p.S1210P|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000550359.2_Missense_Mutation_p.S1063P|PPFIA2_ENST00000443686.3_Missense_Mutation_p.S1111P	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	1216					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						AATGTTTCTGAGGACCCAGGC	0.458																																																0													125	119	121					12																	81657079		1959	4156	6115	SO:0001583	missense	8499			AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"Sterile alpha motif (SAM) domain containing"	9246	protein-coding gene	gene with protein product	"Liprin-alpha2"	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.3646T>C	12.37:g.81657079A>G	ENSP00000450337:p.Ser1216Pro		B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	CCDS55857.1	.	.	.	.	.	.	.	.	.	.	A	14.95	2.687202	0.48097	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000541017;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948	T;T;T;T;T;T;T;T;T	0.32515	2.19;2.19;1.87;1.45;1.84;2.19;2.2;1.87;2.17	5.23	4.01	0.46588	.	0.240193	0.34338	N	0.004060	T	0.18882	0.0453	N	0.19112	0.55	0.44555	D	0.997519	P	0.36048	0.534	B	0.31686	0.134	T	0.08889	-1.0700	10	0.62326	D	0.03	-10.3439	11.7843	0.52032	0.8531:0.1469:0.0:0.0	.	1216	O75334	LIPA2_HUMAN	P	1216;1201;752;402;1115;1229;1204;1210;1111;1195	ENSP00000450337:S1216P;ENSP00000450298:S1201P;ENSP00000438337:S752P;ENSP00000445532:S402P;ENSP00000385093:S1115P;ENSP00000327416:S1204P;ENSP00000449338:S1210P;ENSP00000388373:S1111P;ENSP00000447868:S1195P	ENSP00000327416:S1204P	S	-	1	0	PPFIA2	80181210	0.999000	0.42202	1.000000	0.80357	0.963000	0.63663	3.011000	0.49567	1.984000	0.57885	0.528000	0.53228	TCA		0.458	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			G	81657079	A	G	81657079	3	3	705	1	0	0	0	0	1	0	0	0	12312	304	11	3	135	3	PPFIA2	12	81657079	Missense_Mutation	SNP	A	TCGA-KL-8336-01A-11D-2310-10	28882933	81657079	52194816	51	39303											
MGA	23269	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	15	42003374	42003374	+	Missense_Mutation	SNP	C	C	T	rs372252914		TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr15:42003374C>T	ENST00000570161.1	+	7	2911	c.2911C>T	c.(2911-2913)Cgg>Tgg	p.R971W	MGA_ENST00000389936.4_Missense_Mutation_p.R971W|MGA_ENST00000545763.1_Missense_Mutation_p.R971W|MGA_ENST00000219905.7_Missense_Mutation_p.R971W|MGA_ENST00000566586.1_Missense_Mutation_p.R971W			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	P-type 2. {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)	GATTAGTTTGCGGCAGGCACA	0.458																																																0								C	TRP/ARG,TRP/ARG	0,4038		0,0,2019	63	67	66		2911,2911	3.7	1	15		66	1,8411		0,1,4205	no	missense,missense	MGA	NM_001080541.2,NM_001164273.1	101,101	0,1,6224	TT,TC,CC		0.0119,0.0,0.0080	probably-damaging,probably-damaging	971/2857,971/3066	42003374	1,12449	2019	4206	6225	SO:0001583	missense	23269			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"MAX dimerization proteins", "T-boxes"	14010	protein-coding gene	gene with protein product			"MAX gene associated"				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.2911C>T	15.37:g.42003374C>T	ENSP00000457035:p.Arg971Trp		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.634468	0.67130	0.0	1.19E-4	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	T;T;T	0.17691	2.26;2.26;2.26	5.83	3.74	0.42951	.	0.665977	0.13693	N	0.369363	T	0.28566	0.0707	N	0.24115	0.695	0.26692	N	0.971333	D;D	0.89917	0.999;1.0	D;D	0.69479	0.963;0.964	T	0.21724	-1.0237	10	0.87932	D	0	.	15.5704	0.76330	0.3449:0.6551:0.0:0.0	.	971;971	F5H7K2;E7ENI0	.;.	W	971	ENSP00000219905:R971W;ENSP00000374586:R971W;ENSP00000442467:R971W	ENSP00000219905:R971W	R	+	1	2	MGA	39790666	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.467000	0.35321	1.453000	0.47775	0.650000	0.86243	CGG		0.458	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		T	42003374	C	T	42003374	3	4	705	1	0	0	0	0	1	0	0	0	9542	759	27	1	2937	1	MGA	15	42003374	Missense_Mutation	SNP	C	TCGA-KL-8336-01A-11D-2310-10		42003374	60528018	52	39304											
HAPLN3	145864	broad.mit.edu	37	15	89421386	89421386	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr15:89421386A>G	ENST00000359595.3	-	5	1112	c.898T>C	c.(898-900)Ttt>Ctt	p.F300L	HAPLN3_ENST00000562889.1_Missense_Mutation_p.F362L	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	300	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323, ECO:0000305}.				cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)				Hyaluronan(DB08818)	CAGGCGGCAAAGAGCTGTCCC	0.627																																																0													159	147	151					15																	89421386		2200	4299	6499	SO:0001583	missense	145864			AY262759	CCDS10346.1	15q26.1	2013-01-11			ENSG00000140511	ENSG00000140511		"Immunoglobulin superfamily / V-set domain containing"	21446	protein-coding gene	gene with protein product			"extracellular link domain containing, 1"	EXLD1		12663660	Standard	NM_178232		Approved	HsT19883	uc002bnc.3	Q96S86	OTTHUMG00000148680	ENST00000359595.3:c.898T>C	15.37:g.89421386A>G	ENSP00000352606:p.Phe300Leu		A8K7P0	Missense_Mutation	SNP	ENST00000359595.3	37	CCDS10346.1	.	.	.	.	.	.	.	.	.	.	A	34	5.368382	0.95900	.	.	ENSG00000140511	ENST00000359595	T	0.07688	3.17	4.7	4.7	0.59300	C-type lectin fold (1);Link (4);C-type lectin-like (1);	0.057786	0.64402	D	0.000001	T	0.13543	0.0328	L	0.52573	1.65	0.49687	D	0.999819	P;P	0.47604	0.898;0.898	P;P	0.47251	0.542;0.542	T	0.00978	-1.1493	10	0.72032	D	0.01	-10.134	13.3187	0.60421	1.0:0.0:0.0:0.0	.	300;300	A8K7T8;Q96S86	.;HPLN3_HUMAN	L	300	ENSP00000352606:F300L	ENSP00000352606:F300L	F	-	1	0	HAPLN3	87222390	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.817000	0.91985	1.871000	0.54225	0.533000	0.62120	TTT		0.627	HAPLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309070.1	NM_178232		G	89421386	A	G	89421386	3	3	705	1	0	0	0	0	1	0	0	0	6958	72	3	3	188	3	HAPLN3	15	89421386	Missense_Mutation	SNP	A	TCGA-KL-8336-01A-11D-2310-10	47418012	89421386	13110006	53	39305											
ZNF785	146540	ucsc.edu;bcgsc.ca	37	16	30596805	30596805	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr16:30596805C>T	ENST00000395216.2	-	1	287	c.128G>A	c.(127-129)tGg>tAg	p.W43*	ZNF785_ENST00000470110.1_Nonsense_Mutation_p.W43*|AC002310.7_ENST00000492040.1_RNA|RP11-146F11.5_ENST00000563540.1_RNA|AC002310.7_ENST00000486926.1_RNA	NM_152458.6	NP_689671.2	A8K8V0	ZN785_HUMAN	zinc finger protein 785	43	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						CAGGCATTCCCACTCCTCGGG	0.746																																																0													16	18	17					16																	30596805		2192	4292	6484	SO:0001587	stop_gained	146540			BC040642	CCDS10685.1	16p11.2	2013-01-08			ENSG00000197162	ENSG00000197162		"Zinc fingers, C2H2-type", "-"	26496	protein-coding gene	gene with protein product						10493829	Standard	NM_152458		Approved	FLJ32130	uc002dyu.3	A8K8V0	OTTHUMG00000132398	ENST00000395216.2:c.128G>A	16.37:g.30596805C>T	ENSP00000378642:p.Trp43*		O75701|Q8IW91|Q8WV14|Q96MN0	Nonsense_Mutation	SNP	ENST00000395216.2	37	CCDS10685.1	.	.	.	.	.	.	.	.	.	.	c	14.96	2.691809	0.48097	.	.	ENSG00000197162	ENST00000470110;ENST00000395216	.	.	.	4.56	1.35	0.21983	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.6933	0.28579	0.1762:0.4848:0.339:0.0	.	.	.	.	X	43	.	ENSP00000378642:W43X	W	-	2	0	ZNF785	30504306	0.002000	0.14202	0.014000	0.15608	0.180000	0.23129	0.325000	0.19628	0.140000	0.18849	0.586000	0.80456	TGG		0.746	ZNF785-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255529.2	NM_152458		T	30596805	C	T	30596805	4	4	705	1	0	0	0	0	0	1	0	0	18162	595	21	2	1101	2	ZNF785	16	30596805	Nonsense_Mutation	SNP	C	TCGA-KL-8336-01A-11D-2310-10		30596805	59757948	54	39306											
ARMC5	79798	bcgsc.ca	37	16	31476458	31476458	+	Intron	SNP	C	C	T	rs11150624	byFrequency	TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr16:31476458C>T	ENST00000563544.1	+	5	2410				ARMC5_ENST00000457010.2_Missense_Mutation_p.A705V|ARMC5_ENST00000538189.1_Intron|ARMC5_ENST00000412665.2_Intron|ARMC5_ENST00000268314.4_Intron|ARMC5_ENST00000408912.3_Intron			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5											central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						TGCAGCCCCGCGCCCAGGATC	0.622													C|||	1523	0.304113	0.0507	0.5735	5008	,	,		20389	0.4494		0.4463	False		,,,				2504	0.1595															0								C	,VAL/ALA	443,3739		26,391,1674	49	55	53		,2114	-7.3	0	16	dbSNP_120	53	3593,4857		780,2033,1412	yes	intron,missense	ARMC5	NM_001105247.1,NM_024742.2	,64	806,2424,3086	TT,TC,CC		42.5207,10.593,31.9506	,	,705/726	31476458	4036,8596	2091	4225	6316	SO:0001627	intron_variant	79798			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.1864+250C>T	16.37:g.31476458C>T			Q86WM9|Q9H7P8|Q9H925	Missense_Mutation	SNP	ENST00000563544.1	37	CCDS45472.1	858	0.39285714285714285	28	0.056910569105691054	209	0.5773480662983426	277	0.48426573426573427	344	0.45382585751978893	C	8.087	0.773579	0.16051	0.10593	0.425207	ENSG00000140691	ENST00000457010	T	0.21543	2.0	3.63	-7.27	0.01461	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.20261	0.043	B	0.14578	0.011	T	0.45101	-0.9284	6	.	.	.	.	4.3423	0.11115	0.1614:0.4832:0.2508:0.1046	rs11150624;rs56855049;rs11150624	704	Q96C12-4	.	V	705	ENSP00000399561:A705V	.	A	+	2	0	ARMC5	31383959	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.168000	0.03123	-1.705000	0.01406	-1.359000	0.01217	GCG		0.622	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432847.1	NM_024742		T	31476458	C	T	31476458	1	4	705	0	1	0	0	0	0	0	0	0	954	768	27	1		1	ARMC5	16	31476458	Intron	SNP	C	TCGA-KL-8336-01A-11D-2310-10	879653	31476458	58878295	55	39307											
VPS53	55275	ucsc.edu	37	17	617869	617869	+	Silent	SNP	G	G	A	rs11558129	byFrequency	TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr17:617869G>A	ENST00000571805.1	-	1	217	c.81C>T	c.(79-81)atC>atT	p.I27I	VPS53_ENST00000574029.1_Silent_p.I27I|VPS53_ENST00000401468.3_Silent_p.I27I|VPS53_ENST00000446250.2_5'UTR|VPS53_ENST00000291074.5_Silent_p.I27I|VPS53_ENST00000437048.2_Silent_p.I27I			Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	27				I -> V (in Ref. 3; ABW03005). {ECO:0000305}.	protein transport (GO:0015031)	endosome (GO:0005768)|GARP complex (GO:0000938)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		TTACCTGCTCGATGGCCAGCT	0.711													G|||	728	0.145367	0.0265	0.2435	5008	,	,		11887	0.0248		0.2356	False		,,,				2504	0.2679															0								G	,	240,4166	139.2+/-174.8	5,230,1968	56	57	57		81,81	0.7	1	17	dbSNP_120	57	2133,6467	361.9+/-332.5	268,1597,2435	no	coding-synonymous,coding-synonymous	VPS53	NM_001128159.2,NM_018289.3	,	273,1827,4403	AA,AG,GG		24.8023,5.4471,18.2454	,	27/833,27/671	617869	2373,10633	2203	4300	6503	SO:0001819	synonymous_variant	55275				CCDS10995.1, CCDS45558.1	17p13.3	2007-07-13	2006-12-19			ENSG00000141252			25608	protein-coding gene	gene with protein product		615850	"vacuolar protein sorting 53 (yeast)"			15878329	Standard	NM_018289		Approved	FLJ10979, HCCS1	uc010cjo.2	Q5VIR6		ENST00000571805.1:c.81C>T	17.37:g.617869G>A			A8K2S8|B3FH42|Q8WYW3|Q9BRR2|Q9BY02|Q9NV25	Silent	SNP	ENST00000571805.1	37																																																																																					0.711	VPS53-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000436940.2	NM_018289		A	617869	G	A	617869	2	1	705	1	0	0	0	0	0	0	0	1	17220	1048	37	1		1	VPS53	17	617869	Silent	SNP	G	TCGA-KL-8336-01A-11D-2310-10		617869	80577341	56	39308											
ZZEF1	23140	broad.mit.edu	37	17	4046184	4046184	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr17:4046184delC	ENST00000381638.2	-	1	130	c.6delG	c.(4-6)gggfs	p.G2fs	CYB5D2_ENST00000573984.1_5'Flank|ZZEF1_ENST00000574474.1_5'UTR|CYB5D2_ENST00000575251.1_5'Flank|CYB5D2_ENST00000301391.3_5'Flank	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2							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						TCGGAGCGTTCCCCATGGGGT	0.741																																																0													3	3	3					17																	4046184		1755	3358	5113	SO:0001589	frameshift_variant	23140			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.6delG	17.37:g.4046184delC	ENSP00000371051:p.Gly2fs		A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Frame_Shift_Del	DEL	ENST00000381638.2	37	CCDS11043.1																																																																																				0.741	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		-	4046184	C	-	4046184	7	5	705	1	0	1	0	1	0	0	0	0	18260	842	30	0	9099	0	ZZEF1	17	4046184	Frame_Shift_Del	DEL	C	TCGA-KL-8336-01A-11D-2310-10	3428315	4046184	77149026	57	39309											
TP53	7157	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	17	7578455	7578455	+	Missense_Mutation	SNP	C	C	G			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr17:7578455C>G	ENST00000269305.4	-	5	664	c.475G>C	c.(475-477)Gcc>Ccc	p.A159P	TP53_ENST00000413465.2_Missense_Mutation_p.A159P|TP53_ENST00000420246.2_Missense_Mutation_p.A159P|TP53_ENST00000445888.2_Missense_Mutation_p.A159P|TP53_ENST00000455263.2_Missense_Mutation_p.A159P|TP53_ENST00000359597.4_Missense_Mutation_p.A159P|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	159	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).		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.A159P(19)|p.0?(8)|p.A159T(7)|p.R158fs(6)|p.R158fs*11(6)|p.A159fs*11(4)|p.A159S(4)|p.R65fs(2)|p.A27P(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.R26fs(2)|p.A66P(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.R156_A161del(1)|p.R158_A159insXX(1)|p.V157_M160delVRAM(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.R65fs*11(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.A159_Q167delAMAIYKQSQ(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)	ATGGCCATGGCGCGGACGCGG	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)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	85	Substitution - Missense(34)|Deletion - Frameshift(18)|Deletion - In frame(12)|Complex(10)|Whole gene deletion(8)|Complex - frameshift(2)|Insertion - In frame(1)	lung(20)|central_nervous_system(18)|oesophagus(8)|liver(6)|stomach(5)|breast(5)|upper_aerodigestive_tract(4)|urinary_tract(4)|bone(4)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|ovary(2)|thyroid(1)|soft_tissue(1)|pancreas(1)											50	51	50					17																	7578455		2203	4300	6503	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.475G>C	17.37:g.7578455C>G	ENSP00000269305:p.Ala159Pro		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	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.209010	0.58343	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;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;-7.28	5.59	2.4	0.29515	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.053992	0.64402	D	0.000001	D	0.99816	0.9919	M	0.89840	3.065	0.51767	D	0.999938	D;D;D;D;D;D;D	0.89917	1.0;0.998;0.999;1.0;0.997;0.995;1.0	D;D;D;D;D;D;D	0.87578	0.997;0.986;0.995;0.997;0.996;0.987;0.998	D	0.98681	1.0692	10	0.87932	D	0	-9.0177	6.1221	0.20159	0.0:0.6615:0.1535:0.185	.	120;159;159;66;159;159;159	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	P	159;159;159;159;159;159;148;66;27;66;27;159	ENSP00000410739:A159P;ENSP00000352610:A159P;ENSP00000269305:A159P;ENSP00000398846:A159P;ENSP00000391127:A159P;ENSP00000391478:A159P;ENSP00000425104:A27P;ENSP00000423862:A66P;ENSP00000424104:A159P	ENSP00000269305:A159P	A	-	1	0	TP53	7519180	1.000000	0.71417	0.149000	0.22428	0.179000	0.23085	4.930000	0.63462	0.333000	0.23563	0.655000	0.94253	GCC		0.627	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		G	7578455	C	G	7578455	3	3	705	1	0	0	0	0	1	0	0	0	16386	768	27	4	823	4	TP53	17	7578455	Missense_Mutation	SNP	C	TCGA-KL-8336-01A-11D-2310-10	3532271	7578455	73616755	58	39310											
GPR179	440435	ucsc.edu	37	17	36483472	36483472	+	Missense_Mutation	SNP	C	C	A			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr17:36483472C>A	ENST00000342292.4	-	11	6000	c.5980G>T	c.(5980-5982)Gcc>Tcc	p.A1994S	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1994					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)				ACGTCAGCGGCCCTGCCCCCA	0.572																																																0													58	58	58					17																	36483472		2022	4189	6211	SO:0001583	missense	440435				CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"GPCR / Class C : Orphans"	31371	protein-coding gene	gene with protein product		614515	"GPR158-like 1", "GPR179"	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.5980G>T	17.37:g.36483472C>A	ENSP00000345060:p.Ala1994Ser			Missense_Mutation	SNP	ENST00000342292.4	37	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.838049	0.32513	.	.	ENSG00000188888	ENST00000342292	T	0.50548	0.74	4.78	-0.835	0.10775	.	2.989320	0.01141	N	0.006215	T	0.35941	0.0949	L	0.52573	1.65	0.09310	N	1	B	0.31910	0.346	B	0.24269	0.052	T	0.07252	-1.0782	10	0.08599	T	0.76	3.1037	6.0046	0.19539	0.0:0.5146:0.1542:0.3312	.	1994	Q6PRD1	GP179_HUMAN	S	1994	ENSP00000345060:A1994S	ENSP00000345060:A1994S	A	-	1	0	GPR179	33736998	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.142000	0.16096	-0.259000	0.09432	0.561000	0.74099	GCC		0.572	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			A	36483472	C	A	36483472	3	1	705	1	0	0	0	0	1	0	0	0	6676	739	26	4	1127	4	GPR179	17	36483472	Missense_Mutation	SNP	C	TCGA-KL-8336-01A-11D-2310-10	28905017	36483472	44711738	59	39311											
NPTX1	4884	broad.mit.edu	37	17	78449421	78449421	+	Missense_Mutation	SNP	A	A	C			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr17:78449421A>C	ENST00000306773.4	-	2	699	c.542T>G	c.(541-543)gTg>gGg	p.V181G	NPTX1_ENST00000575212.1_5'UTR	NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	neuronal pentraxin I	181					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)			CAGGGTGTTCACCCGGGACAG	0.632																																																0													49	40	43					17																	78449421		2201	4299	6500	SO:0001583	missense	4884			U61849	CCDS32762.1	17q25.3	2008-05-14				ENSG00000171246			7952	protein-coding gene	gene with protein product		602367				8884281	Standard	NM_002522		Approved		uc002jyp.1	Q15818		ENST00000306773.4:c.542T>G	17.37:g.78449421A>C	ENSP00000307549:p.Val181Gly		B3KXH3|Q5FWE6	Missense_Mutation	SNP	ENST00000306773.4	37	CCDS32762.1	.	.	.	.	.	.	.	.	.	.	A	14.45	2.538851	0.45176	.	.	ENSG00000171246	ENST00000306773	T	0.12147	2.71	3.7	3.7	0.42460	.	0.000000	0.85682	D	0.000000	T	0.25121	0.0610	M	0.77313	2.365	0.80722	D	1	D	0.54047	0.964	P	0.49140	0.601	T	0.08229	-1.0732	10	0.72032	D	0.01	-23.0712	11.7908	0.52068	1.0:0.0:0.0:0.0	.	181	Q15818	NPTX1_HUMAN	G	181	ENSP00000307549:V181G	ENSP00000307549:V181G	V	-	2	0	NPTX1	76064016	1.000000	0.71417	0.998000	0.56505	0.953000	0.61014	5.641000	0.67881	1.682000	0.51000	0.459000	0.35465	GTG		0.632	NPTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438051.1			C	78449421	A	C	78449421	3	2	705	1	0	0	0	0	1	0	0	0	10604	159	6	5	772	5	NPTX1	17	78449421	Missense_Mutation	SNP	A	TCGA-KL-8336-01A-11D-2310-10	41965949	78449421	2745789	60	39312											
ANKRD30B	374860	mdanderson.org	37	18	14779986	14779986	+	Missense_Mutation	SNP	G	G	A	rs76927023		TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr18:14779986G>A	ENST00000358984.4	+	11	1628	c.1448G>A	c.(1447-1449)cGa>cAa	p.R483Q	ANKRD30B_ENST00000447268.2_Missense_Mutation_p.R483Q|ANKRD30B_ENST00000579292.1_Intron	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																																																0													169	160	163					18																	14779986		692	1591	2283	SO:0001583	missense	374860			BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"Ankyrin repeat domain containing"	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.1448G>A	18.37:g.14779986G>A	ENSP00000351875:p.Arg483Gln		B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	ENST00000358984.4	37	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		A	14779986	G	A	14779986	3	1	705	1	0	0	0	0	1	0	0	0	659	1058	37	1	1490	1	ANKRD30B	18	14779986	Missense_Mutation	SNP	G	TCGA-KL-8336-01A-11D-2310-10		14779986	63297262	61	39313											
DSC3	1825	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	18	28611062	28611062	+	Silent	SNP	C	C	A			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr18:28611062C>A	ENST00000360428.4	-	3	311	c.231G>T	c.(229-231)ggG>ggT	p.G77G	DSC3_ENST00000434452.1_Silent_p.G77G	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	77					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)			TGTACACTGACCCATCATTTA	0.418																																																0													72	64	67					18																	28611062		2203	4300	6503	SO:0001819	synonymous_variant	1825			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.231G>T	18.37:g.28611062C>A			A6NN35|Q14200|Q9HAZ9	Silent	SNP	ENST00000360428.4	37	CCDS32810.1																																																																																				0.418	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	NM_001941, NM_024423		A	28611062	C	A	28611062	2	1	705	1	0	0	0	0	0	0	0	1	4769	494	18	4		4	DSC3	18	28611062	Silent	SNP	C	TCGA-KL-8336-01A-11D-2310-10	13831076	28611062	49466186	62	39314											
DAZAP1	26528	ucsc.edu	37	19	1432574	1432574	+	Silent	SNP	T	T	C	rs201283349	byFrequency	TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr19:1432574T>C	ENST00000233078.4	+	11	1094	c.933T>C	c.(931-933)ccT>ccC	p.P311P	DAZAP1_ENST00000336761.6_Silent_p.P311P	NM_018959.2	NP_061832.2	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1	311	Pro-rich.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|maternal placenta development (GO:0001893)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		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)		GGGTTCCTCCTCCACCAGCCA	0.647																																																0													63	73	70					19																	1432574		2203	4300	6503	SO:0001819	synonymous_variant	26528				CCDS12065.1, CCDS12066.1	19p13.3	2013-07-16			ENSG00000071626	ENSG00000071626		"RNA binding motif (RRM) containing"	2683	protein-coding gene	gene with protein product	"deleted in azoospermia associated protein 1"	607430				10857750, 23658607	Standard	XM_005259530		Approved	MGC19907	uc002lsn.3	Q96EP5		ENST00000233078.4:c.933T>C	19.37:g.1432574T>C			Q96MJ3|Q9NRR9	Silent	SNP	ENST00000233078.4	37	CCDS12065.1																																																																																				0.647	DAZAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449522.3	NM_170711		C	1432574	T	C	1432574	2	2	705	1	0	0	0	0	0	0	0	1	4246	1538	54	3		3	DAZAP1	19	1432574	Silent	SNP	T	TCGA-KL-8336-01A-11D-2310-10		1432574	57696409	63	39315											
PLIN4	729359	mdanderson.org	37	19	4512156	4512156	+	Missense_Mutation	SNP	C	C	T	rs112356938	byFrequency	TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr19:4512156C>T	ENST00000301286.3	-	3	1773	c.1774G>A	c.(1774-1776)Gtg>Atg	p.V592M		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	592	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)		p.V520M(1)		NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						ACTGCCCCCACGAGCCCAGTA	0.602																																																1	Substitution - Missense(1)	skin(1)											244	261	255					19																	4512156		2116	4235	6351	SO:0001583	missense	729359			AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"Perilipins"	29393	protein-coding gene	gene with protein product		613247	"KIAA1881"	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.1774G>A	19.37:g.4512156C>T	ENSP00000301286:p.Val592Met		A6NEI2	Missense_Mutation	SNP	ENST00000301286.3	37	CCDS45927.1	.	.	.	.	.	.	.	.	.	.	T	10.94	1.492727	0.26774	.	.	ENSG00000167676	ENST00000301286	T	0.05717	3.4	5.1	-0.9	0.10544	.	1.053640	0.07562	N	0.917246	T	0.02807	0.0084	N	0.14661	0.345	0.09310	N	1	P	0.52170	0.951	B	0.37198	0.243	T	0.31138	-0.9954	10	0.48119	T	0.1	.	0.7342	0.00962	0.2575:0.1531:0.1331:0.4562	.	592	Q96Q06	PLIN4_HUMAN	M	592	ENSP00000301286:V592M	ENSP00000301286:V592M	V	-	1	0	PLIN4	4463156	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.480000	0.22244	-0.303000	0.08856	-0.374000	0.07098	GTG		0.602	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		T	4512156	C	T	4512156	3	4	705	1	0	0	0	0	1	0	0	0	12094	536	19	1	2315	1	PLIN4	19	4512156	Missense_Mutation	SNP	C	TCGA-KL-8336-01A-11D-2310-10	3079582	4512156	54616827	64	39316											
PNPLA6	10908	bcgsc.ca	37	19	7607524	7607524	+	Missense_Mutation	SNP	G	G	T			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr19:7607524G>T	ENST00000221249.6	+	14	1644	c.1213G>T	c.(1213-1215)Gcc>Tcc	p.A405S	PNPLA6_ENST00000414982.3_Missense_Mutation_p.A453S|PNPLA6_ENST00000450331.3_Missense_Mutation_p.A405S|PNPLA6_ENST00000545201.2_Missense_Mutation_p.A405S|PNPLA6_ENST00000600737.1_Missense_Mutation_p.A444S	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	444					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						GCAGGAAGAGGCCTCCGGGGG	0.711																																																0													24	29	27					19																	7607524		2198	4295	6493	SO:0001583	missense	10908			AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"Patatin-like phospholipase domain containing"	16268	protein-coding gene	gene with protein product	"neuropathy target esterase"	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.1213G>T	19.37:g.7607524G>T	ENSP00000221249:p.Ala405Ser		A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Missense_Mutation	SNP	ENST00000221249.6	37	CCDS32891.1	.	.	.	.	.	.	.	.	.	.	G	7.434	0.639407	0.14386	.	.	ENSG00000032444	ENST00000221249;ENST00000545201;ENST00000414982;ENST00000544207;ENST00000450331	T;T;T;T	0.03920	3.78;3.84;3.76;3.78	5.24	4.15	0.48705	.	0.433679	0.26711	N	0.022882	T	0.01124	0.0037	N	0.00368	-1.59	0.34573	D	0.713646	B;B;B;B	0.12013	0.005;0.002;0.004;0.002	B;B;B;B	0.12837	0.006;0.006;0.008;0.004	T	0.39522	-0.9610	10	0.08599	T	0.76	.	5.84	0.18629	0.1648:0.0:0.8352:0.0	.	444;405;444;405	Q8IY17;F5H5K9;Q8IY17-3;Q8IY17-2	PLPL6_HUMAN;.;.;.	S	405;405;453;342;405	ENSP00000221249:A405S;ENSP00000443323:A405S;ENSP00000407509:A453S;ENSP00000394348:A405S	ENSP00000221249:A405S	A	+	1	0	PNPLA6	7513524	0.992000	0.36948	1.000000	0.80357	0.665000	0.39181	1.552000	0.36244	2.445000	0.82738	0.655000	0.94253	GCC		0.711	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	NM_006702		T	7607524	G	T	7607524	3	4	705	1	0	0	0	0	1	0	0	0	12171	1203	42	4	1403	4	PNPLA6	19	7607524	Missense_Mutation	SNP	G	TCGA-KL-8336-01A-11D-2310-10	3095368	7607524	51521459	65	39317											
S1PR5	53637	bcgsc.ca	37	19	10625364	10625364	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr19:10625364C>T	ENST00000439028.3	-	2	449	c.324G>A	c.(322-324)tgG>tgA	p.W108*	S1PR5_ENST00000333430.4_Nonsense_Mutation_p.W108*	NM_001166215.1	NP_001159687.1	Q9H228	S1PR5_HUMAN	sphingosine-1-phosphate receptor 5	108					regulation of neuron differentiation (GO:0045664)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sphingosine-1-phosphate receptor activity (GO:0038036)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	12					Fingolimod(DB08868)	CCCGTGCGAACCAGAGCGCGG	0.697																																																0													13	16	15					19																	10625364		2189	4294	6483	SO:0001587	stop_gained	53637			AK074661	CCDS12240.1	19p13.2	2012-08-08	2008-04-30	2008-04-30		ENSG00000180739		"GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"	14299	protein-coding gene	gene with protein product		605146	"endothelial differentiation, sphingolipid G-protein-coupled receptor, 8"	EDG8		10799507	Standard	NM_030760		Approved	Edg-8	uc002mou.2	Q9H228		ENST00000439028.3:c.324G>A	19.37:g.10625364C>T	ENSP00000416915:p.Trp108*		Q6NW11	Nonsense_Mutation	SNP	ENST00000439028.3	37	CCDS12240.1	.	.	.	.	.	.	.	.	.	.	c	31	5.059320	0.93846	.	.	ENSG00000180739	ENST00000439028;ENST00000333430;ENST00000359134	.	.	.	4.11	3.06	0.35304	.	0.151751	0.47852	U	0.000206	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.7323	0.57204	0.0:0.8325:0.1675:0.0	.	.	.	.	X	108	.	ENSP00000328472:W108X	W	-	3	0	S1PR5	10486364	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	7.481000	0.81124	0.935000	0.37341	0.306000	0.20318	TGG		0.697	S1PR5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452015.1	NM_030760		T	10625364	C	T	10625364	4	4	705	1	0	0	0	0	0	1	0	0	13803	508	18	2	876	2	S1PR5	19	10625364	Nonsense_Mutation	SNP	C	TCGA-KL-8336-01A-11D-2310-10	3017840	10625364	48503619	66	39318											
ZNF799	90576	mdanderson.org	37	19	12501852	12501852	+	Missense_Mutation	SNP	C	C	T	rs200077318		TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr19:12501852C>T	ENST00000430385.3	-	4	1560	c.1360G>A	c.(1360-1362)Ggg>Agg	p.G454R	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000419318.1_Missense_Mutation_p.G422R	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	454					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						AAGGCTTTCCCACATTTGCAT	0.383																																																0													75	80	78					19																	12501852		2202	4299	6501	SO:0001583	missense	90576			BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"Zinc fingers, C2H2-type", "-"	28071	protein-coding gene	gene with protein product			"zinc finger protein 842"	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.1360G>A	19.37:g.12501852C>T	ENSP00000411084:p.Gly454Arg			Missense_Mutation	SNP	ENST00000430385.3	37	CCDS45989.1	.	.	.	.	.	.	.	.	.	.	C	16.12	3.033438	0.54896	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	T;T	0.21361	2.01;2.01	1.31	-1.12	0.09808	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27349	0.0671	M	0.86097	2.795	0.31959	N	0.608702	B	0.19200	0.034	B	0.28849	0.095	T	0.34179	-0.9839	9	0.72032	D	0.01	.	5.5527	0.17099	0.0:0.6435:0.0:0.3565	.	454	Q96GE5	ZN799_HUMAN	R	422;454	ENSP00000415278:G422R;ENSP00000411084:G454R	ENSP00000415278:G422R	G	-	1	0	ZNF799	12362852	0.004000	0.15560	0.000000	0.03702	0.966000	0.64601	1.363000	0.34159	-0.271000	0.09272	0.430000	0.28490	GGG		0.383	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821		T	12501852	C	T	12501852	3	4	705	1	0	0	0	0	1	0	0	0	18171	594	21	2	575	2	ZNF799	19	12501852	Missense_Mutation	SNP	C	TCGA-KL-8336-01A-11D-2310-10	1876488	12501852	46627131	67	39319	324	2									
ZNF799	90576	mdanderson.org	37	19	12501855	12501855	+	Missense_Mutation	SNP	A	A	G	rs201077492|rs79480756		TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr19:12501855A>G	ENST00000430385.3	-	4	1557	c.1357T>C	c.(1357-1359)Tgt>Cgt	p.C453R	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000419318.1_Missense_Mutation_p.C421R	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	453					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						GCTTTCCCACATTTGCATTTA	0.388																																																0													76	81	79					19																	12501855		2202	4299	6501	SO:0001583	missense	90576			BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"Zinc fingers, C2H2-type", "-"	28071	protein-coding gene	gene with protein product			"zinc finger protein 842"	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.1357T>C	19.37:g.12501855A>G	ENSP00000411084:p.Cys453Arg			Missense_Mutation	SNP	ENST00000430385.3	37	CCDS45989.1	.	.	.	.	.	.	.	.	.	.	A	15.29	2.790257	0.50102	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	D;D	0.85955	-2.05;-2.05	1.31	1.31	0.21738	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.87791	0.6266	H	0.95950	3.745	0.58432	D	0.999998	B	0.02656	0.0	B	0.10450	0.005	D	0.85733	0.1332	9	0.72032	D	0.01	.	6.6913	0.23174	1.0:0.0:0.0:0.0	.	453	Q96GE5	ZN799_HUMAN	R	421;453	ENSP00000415278:C421R;ENSP00000411084:C453R	ENSP00000415278:C421R	C	-	1	0	ZNF799	12362855	0.997000	0.39634	0.001000	0.08648	0.965000	0.64279	5.185000	0.65076	0.846000	0.35142	0.352000	0.21897	TGT		0.388	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821		G	12501855	A	G	12501855	3	3	705	1	0	0	0	0	1	0	0	0	18171	217	8	3	578	3	ZNF799	19	12501855	Missense_Mutation	SNP	A	TCGA-KL-8336-01A-11D-2310-10	3	12501855	46627128	68	39320	324	2									
FFAR3	2865	mdanderson.org	37	19	35850829	35850829	+	Missense_Mutation	SNP	G	G	A	rs201080710		TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr19:35850829G>A	ENST00000327809.4	+	2	1238	c.1037G>A	c.(1036-1038)aGc>aAc	p.S346N	FFAR3_ENST00000594310.1_Missense_Mutation_p.S346N	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	346			S -> N. {ECO:0000269|PubMed:19630535}.		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)			TGTGCTGAAAGCTAGGTCCTC	0.632																																					Esophageal Squamous(185;1742 2042 21963 24215 27871)											0													29	25	26					19																	35850829		2199	4279	6478	SO:0001583	missense	2865			AF024688	CCDS12459.1	19q13.1	2012-08-08	2006-02-15	2006-02-15	ENSG00000185897	ENSG00000185897		"GPCR / Class A : Fatty acid receptors"	4499	protein-coding gene	gene with protein product		603821	"G protein-coupled receptor 41"	GPR41		9344866, 22493486	Standard	NM_005304		Approved	FFA3R	uc002nzd.3	O14843	OTTHUMG00000172514	ENST00000327809.4:c.1037G>A	19.37:g.35850829G>A	ENSP00000328230:p.Ser346Asn		B2RWM8|Q14CM7	Missense_Mutation	SNP	ENST00000327809.4	37	CCDS12459.1	.	.	.	.	.	.	.	.	.	.	G	9.237	1.037199	0.19669	.	.	ENSG00000185897	ENST00000327809	T	0.65364	-0.15	3.72	-0.0966	0.13636	.	.	.	.	.	T	0.41834	0.1176	.	.	.	0.09310	N	1	B	0.29432	0.244	B	0.24006	0.05	T	0.22591	-1.0212	8	0.41790	T	0.15	.	3.1652	0.06533	0.1058:0.1734:0.5425:0.1782	.	346	O14843	FFAR3_HUMAN	N	346	ENSP00000328230:S346N	ENSP00000328230:S346N	S	+	2	0	FFAR3	40542669	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.022000	0.12480	-0.163000	0.10946	0.455000	0.32223	AGC		0.632	FFAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418873.2	NM_005304		A	35850829	G	A	35850829	3	1	705	1	0	0	0	0	1	0	0	0	5831	971	34	2	1039	2	FFAR3	19	35850829	Missense_Mutation	SNP	G	TCGA-KL-8336-01A-11D-2310-10	23348974	35850829	23278154	69	39321											
ZNF836	162962	mdanderson.org;bcgsc.ca	37	19	52660631	52660631	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr19:52660631C>T	ENST00000322146.8	-	5	826	c.305G>A	c.(304-306)tGg>tAg	p.W102*	CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Nonsense_Mutation_p.W102*	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	102					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						ACCATCTTTCCATTGAAACTC	0.323																																																0													97	89	91					19																	52660631		1928	4149	6077	SO:0001587	stop_gained	162962			BC011784	CCDS46162.1	19q13.33	2013-01-08			ENSG00000196267	ENSG00000196267		"Zinc fingers, C2H2-type", "-"	34333	protein-coding gene	gene with protein product							Standard	NM_001102657		Approved	FLJ16287	uc010ydj.2	Q6ZNA1		ENST00000322146.8:c.305G>A	19.37:g.52660631C>T	ENSP00000325038:p.Trp102*			Nonsense_Mutation	SNP	ENST00000322146.8	37	CCDS46162.1	.	.	.	.	.	.	.	.	.	.	C	34	5.380885	0.95945	.	.	ENSG00000196267	ENST00000322146	.	.	.	2.06	0.971	0.19698	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	4.5989	0.12343	0.0:0.7965:0.0:0.2035	.	.	.	.	X	102	.	ENSP00000325038:W102X	W	-	2	0	ZNF836	57352443	0.000000	0.05858	0.000000	0.03702	0.092000	0.18411	-0.030000	0.12308	0.204000	0.20548	0.485000	0.47835	TGG		0.323	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462456.1	NM_001102657		T	52660631	C	T	52660631	4	4	705	1	0	0	0	0	0	1	0	0	18192	595	21	2	2507	2	ZNF836	19	52660631	Nonsense_Mutation	SNP	C	TCGA-KL-8336-01A-11D-2310-10	16809802	52660631	6468352	70	39322											
PANX2	56666	broad.mit.edu	37	22	50616699	50616699	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr22:50616699delT	ENST00000395842.2	+	2	1558	c.1558delT	c.(1558-1560)tacfs	p.Y520fs	PANX2_ENST00000159647.5_Frame_Shift_Del_p.Y520fs	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN	pannexin 2	520					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)		CGTGCACCCCTACATCCTCGG	0.776																																																0													3	3	3					22																	50616699		1646	3384	5030	SO:0001589	frameshift_variant	56666				CCDS14085.2, CCDS54544.1	22q13.33	2011-12-05			ENSG00000073150	ENSG00000073150		"Ion channels / Pannexins"	8600	protein-coding gene	gene with protein product		608421				14702039, 14597722	Standard	NM_052839		Approved	hPANX2, PX2	uc003bjn.4	Q96RD6	OTTHUMG00000044649	ENST00000395842.2:c.1558delT	22.37:g.50616699delT	ENSP00000379183:p.Tyr520fs		B7Z684|Q96RD5|Q9UGX8	Frame_Shift_Del	DEL	ENST00000395842.2	37	CCDS14085.2																																																																																				0.776	PANX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075010.3	NM_052839		-	50616699	T	-	50616699	7	5	705	1	0	1	0	1	0	0	0	0	11423	1522	53	0	1564	0	PANX2	22	50616699	Frame_Shift_Del	DEL	T	TCGA-KL-8336-01A-11D-2310-10		50616699	687867	71	39323											
ARSE	415	hgsc.bcm.edu	37	X	2867365	2867365	+	Silent	SNP	C	C	T			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chrX:2867365C>T	ENST00000381134.3	-	6	900	c.834G>A	c.(832-834)gaG>gaA	p.E278E	ARSE_ENST00000540563.1_Silent_p.E233E|ARSE_ENST00000545496.1_Silent_p.E303E	NM_000047.2	NP_000038.2	P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	278					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)				AGGACGCAACCTCCTGCAGAA	0.488																																																0													65	56	59					X																	2867365		2203	4300	6503	SO:0001819	synonymous_variant	415			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.834G>A	X.37:g.2867365C>T			Q53FT2|Q53FU8	Silent	SNP	ENST00000381134.3	37	CCDS14122.1																																																																																				0.488	ARSE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055643.1	NM_000047		T	2867365	C	T	2867365	2	4	705	1	0	0	0	0	0	0	0	1	990	680	24	2		2	ARSE	23	2867365	Silent	SNP	C	TCGA-KL-8336-01A-11D-2310-10		2867365	152403195	72	39324											
DCAF8L2	347442	hgsc.bcm.edu	37	X	27765387	27765407	+	In_Frame_Del	DEL	GGAGGAGGAGGAAGAGGAGGA	GGAGGAGGAGGAAGAGGAGGA	-	rs371896121		TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	GGAGGAGGAGGAAGAGGAGGA	GGAGGAGGAGGAAGAGGAGGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chrX:27765387_27765407delGGAGGAGGAGGAAGAGGAGGA	ENST00000451261.2	+	5	774_794	c.375_395delGGAGGAGGAGGAAGAGGAGGA	c.(373-396)ggggaggaggaggaagaggaggag>ggg	p.EEEEEEE140del		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	140	Glu-rich.									central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						aggagggaggggaggaggaggaagaggaggaggaggaggag	0.548																																																0																																										SO:0001651	inframe_deletion	347442				CCDS59162.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17		ENSG00000189186		"WD repeat domain containing"	31811	protein-coding gene	gene with protein product			"WD repeat domain 42C"	WDR42C			Standard	NM_001136533		Approved		uc011mjy.2	P0C7V8		ENST00000451261.2:c.375_395delGGAGGAGGAGGAAGAGGAGGA	X.37:g.27765387_27765407delGGAGGAGGAGGAAGAGGAGGA	ENSP00000462745:p.Glu140_Glu146del		B2RXH9|J3KT06	In_Frame_Del	DEL	ENST00000451261.2	37	CCDS59162.1																																																																																				0.548	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056143.4	XM_293354		-	27765407	GGAGGAGGAGGAAGAGGAGGA	-	27765387	7	5	705	1	0	1	0	1	0	0	0	0	4280	1219	43	0	377	0	DCAF8L2	23	27765387	In_Frame_Del	DEL	GGAGGAGGAGGAAGAGGAGGA	TCGA-KL-8336-01A-11D-2310-10	24898022	27765387	127505173	73	39325											
CXorf66	347487	broad.mit.edu	37	X	139038180	139038180	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chrX:139038180C>T	ENST00000370540.1	-	3	984	c.961G>A	c.(961-963)Ggt>Agt	p.G321S		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	321						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						ACATGATCACCGTATGCATTG	0.388																																																0													216	181	193					X																	139038180		2203	4300	6503	SO:0001583	missense	347487				CCDS35411.1	Xq27.1	2014-05-30			ENSG00000203933	ENSG00000203933			33743	protein-coding gene	gene with protein product	"secreted glycoprotein, X-linked"					24709545	Standard	NM_001013403		Approved	RP11-35F15.2, SGPX	uc004fbb.3	Q5JRM2	OTTHUMG00000022539	ENST00000370540.1:c.961G>A	X.37:g.139038180C>T	ENSP00000359571:p.Gly321Ser			Missense_Mutation	SNP	ENST00000370540.1	37	CCDS35411.1	.	.	.	.	.	.	.	.	.	.	C	0.703	-0.789917	0.02884	.	.	ENSG00000203933	ENST00000370540	T	0.40225	1.04	4.03	-8.05	0.01106	.	3.323370	0.00914	N	0.002512	T	0.19927	0.0479	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.12156	0.007	T	0.19976	-1.0289	9	.	.	.	11.0958	7.393	0.26921	0.1163:0.2536:0.5352:0.0949	.	321	Q5JRM2	CX066_HUMAN	S	321	ENSP00000359571:G321S	.	G	-	1	0	CXorf66	138865846	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.983000	0.00163	-3.667000	0.00124	-2.703000	0.00135	GGT		0.388	CXorf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058572.1	NM_001013403		T	139038180	C	T	139038180	3	4	705	1	0	0	0	0	1	0	0	0	4120	652	23	1	128	1	CXorf66	23	139038180	Missense_Mutation	SNP	C	TCGA-KL-8336-01A-11D-2310-10	111272793	139038180	16232380	74	39326											
MXRA8	54587	hgsc.bcm.edu;mdanderson.org	37	1	1290408	1290408	+	Silent	SNP	A	A	G	rs147996767	byFrequency	TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr1:1290408A>G	ENST00000309212.6	-	5	633	c.603T>C	c.(601-603)gcT>gcC	p.A201A	MXRA8_ENST00000477278.2_Silent_p.A192A|MXRA8_ENST00000342753.4_Silent_p.A100A|MXRA8_ENST00000445648.2_Silent_p.A201A	NM_001282582.1|NM_032348.2	NP_001269511.1|NP_115724.1	Q9BRK3	MXRA8_HUMAN	matrix-remodelling associated 8	201	Ig-like V-type 2.				establishment of glial blood-brain barrier (GO:0060857)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)	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;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CCACCTGTTGAGCCTCCTCCA	0.751													-|||	361	0.0720847	0.2579	0.0274	5008	,	,		8344	0.0		0.001	False		,,,				2504	0.0															0										722,3238		65,592,1323	7	9	9		603	-0.7	1	1	dbSNP_134	9	6,7864		0,6,3929	no	coding-synonymous	MXRA8	NM_032348.2		65,598,5252	GG,GA,AA		0.0762,18.2323,6.1538		201/443	1290408	728,11102	1980	3935	5915	SO:0001819	synonymous_variant	54587			BC006213	CCDS24.1, CCDS59950.1, CCDS59951.1, CCDS59952.1	1p36.33	2013-01-11			ENSG00000162576	ENSG00000162576		"Immunoglobulin superfamily / V-set domain containing"	7542	protein-coding gene	gene with protein product	"limitrin"					14603461	Standard	XM_005244758		Approved	DKFZp586E2023	uc001aew.3	Q9BRK3	OTTHUMG00000002973	ENST00000309212.6:c.603T>C	1.37:g.1290408A>G			B3KTR6|B4DE34|Q5TA39|Q96KC3	Silent	SNP	ENST00000309212.6	37	CCDS24.1																																																																																				0.751	MXRA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008282.2	NM_032348		G	1290408	A	G	1290408	2	3	706	1	0	0	0	0	0	0	0	1	10007	291	11	3		3	MXRA8	1	1290408	Silent	SNP	A	TCGA-KL-8337-01A-11D-2310-10		1290408	247960213	1	39327											
NT5C1A	84618	broad.mit.edu	37	1	40124870	40124870	+	Missense_Mutation	SNP	C	C	A			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr1:40124870C>A	ENST00000235628.1	-	6	1029	c.1030G>T	c.(1030-1032)Gcc>Tcc	p.A344S		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	344					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)			ACATGGGCGGCCACAGTGCCC	0.597																																																0													60	63	62					1																	40124870		2203	4300	6503	SO:0001583	missense	84618			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.1030G>T	1.37:g.40124870C>A	ENSP00000235628:p.Ala344Ser		Q3SYB9|Q5TG98|Q9BWT8	Missense_Mutation	SNP	ENST00000235628.1	37	CCDS440.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.588502	0.86851	.	.	ENSG00000116981	ENST00000235628	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.46776	0.1410	N	0.20807	0.61	0.80722	D	1	P	0.39551	0.678	B	0.41619	0.361	T	0.32322	-0.9911	9	0.10902	T	0.67	0.0215	19.6491	0.95794	0.0:1.0:0.0:0.0	.	344	Q9BXI3	5NT1A_HUMAN	S	344	.	ENSP00000235628:A344S	A	-	1	0	NT5C1A	39897457	1.000000	0.71417	0.999000	0.59377	0.774000	0.43823	7.792000	0.85828	2.726000	0.93360	0.655000	0.94253	GCC		0.597	NT5C1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025626.1	NM_032526		A	40124870	C	A	40124870	3	1	706	1	0	0	0	0	1	0	0	0	10687	739	26	4	80	4	NT5C1A	1	40124870	Missense_Mutation	SNP	C	TCGA-KL-8337-01A-11D-2310-10	38834462	40124870	209125751	2	39328											
LPPR5	163404	broad.mit.edu;mdanderson.org;bcgsc.ca	37	1	99418744	99418744	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr1:99418744G>A	ENST00000263177.4	-	3	724	c.503C>T	c.(502-504)aCa>aTa	p.T168I	LPPR5_ENST00000370188.3_Missense_Mutation_p.T168I	NM_001037317.1	NP_001032394.1	Q32ZL2	LPPR5_HUMAN		168						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)										GATGAATTGTGTATACTGCTG	0.463																																																0													122	110	114					1																	99418744		2203	4300	6503	SO:0001583	missense	0																														ENST00000263177.4:c.503C>T	1.37:g.99418744G>A	ENSP00000263177:p.Thr168Ile		A8MPX4|B7UCH3|Q32ZD0|Q3ZCU7	Missense_Mutation	SNP	ENST00000263177.4	37	CCDS30778.1	.	.	.	.	.	.	.	.	.	.	G	8.713	0.912415	0.17907	.	.	ENSG00000117598	ENST00000370188;ENST00000263177	T;T	0.41065	1.01;1.01	4.7	4.7	0.59300	.	0.140387	0.49305	D	0.000157	T	0.14700	0.0355	N	0.11000	0.08	0.35912	D	0.831142	B;B	0.21821	0.05;0.061	B;B	0.22152	0.022;0.038	T	0.04320	-1.0960	10	0.36615	T	0.2	.	16.9952	0.86365	0.0:0.0:1.0:0.0	.	168;168	Q32ZL2-2;Q32ZL2	.;LPPR5_HUMAN	I	168	ENSP00000359207:T168I;ENSP00000263177:T168I	ENSP00000263177:T168I	T	-	2	0	AL161744.1	99191332	0.970000	0.33590	1.000000	0.80357	0.828000	0.46876	3.609000	0.54117	2.300000	0.77407	0.655000	0.94253	ACA		0.463	LPPR5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393221.1			A	99418744	G	A	99418744	3	1	706	1	0	0	0	0	1	0	0	0	8930	1377	48	2	478	2	LPPR5	1	99418744	Missense_Mutation	SNP	G	TCGA-KL-8337-01A-11D-2310-10	59293874	99418744	149831877	3	39329											
DCST2	127579	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	155002604	155002604	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr1:155002604A>G	ENST00000368424.3	-	7	1191	c.1133T>C	c.(1132-1134)gTg>gCg	p.V378A	DCST2_ENST00000295536.5_Missense_Mutation_p.V378A	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	378						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)			GAGCGGTAGCACTGTGGGCAG	0.622																																																0													85	84	84					1																	155002604		2203	4300	6503	SO:0001583	missense	127579			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.1133T>C	1.37:g.155002604A>G	ENSP00000357409:p.Val378Ala		Q2M2R2|Q8N810|Q96M03	Missense_Mutation	SNP	ENST00000368424.3	37	CCDS1082.2	.	.	.	.	.	.	.	.	.	.	A	17.88	3.497713	0.64186	.	.	ENSG00000163354	ENST00000368424;ENST00000295536	T;T	0.35421	1.31;1.31	4.68	3.54	0.40534	Dendritic cell-specific transmembrane protein-like (1);	0.085942	0.44902	D	0.000406	T	0.38026	0.1025	L	0.55481	1.735	0.38624	D	0.951212	D	0.76494	0.999	D	0.72625	0.978	T	0.29640	-1.0005	10	0.52906	T	0.07	-21.6605	8.4994	0.33148	0.8267:0.0:0.0:0.1733	.	378	Q5T1A1	DCST2_HUMAN	A	378	ENSP00000357409:V378A;ENSP00000295536:V378A	ENSP00000295536:V378A	V	-	2	0	DCST2	153269228	1.000000	0.71417	0.987000	0.45799	0.784000	0.44337	3.656000	0.54467	0.790000	0.33803	0.533000	0.62120	GTG		0.622	DCST2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090953.3	NM_144622		G	155002604	A	G	155002604	3	3	706	1	0	0	0	0	1	0	0	0	4305	159	6	3	1224	3	DCST2	1	155002604	Missense_Mutation	SNP	A	TCGA-KL-8337-01A-11D-2310-10	55583860	155002604	94248017	4	39330											
SH2D2A	9047	broad.mit.edu	37	1	156777068	156777069	+	Frame_Shift_Ins	INS	-	-	T			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr1:156777068_156777069insT	ENST00000368199.3	-	8	1224_1225	c.1071_1072insA	c.(1069-1074)cagcccfs	p.P358fs	SH2D2A_ENST00000392306.2_Frame_Shift_Ins_p.P368fs|SH2D2A_ENST00000368198.3_Frame_Shift_Ins_p.P340fs	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	358	Pro-rich.				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)					GCGGGTGGGGGCTGGTGGGGCA	0.599																																																0																																										SO:0001589	frameshift_variant	9047			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.1071_1072insA	1.37:g.156777068_156777069insT	ENSP00000357182:p.Pro358fs		O43817|Q5UBZ1|Q5VZS4|Q5VZS5|Q9UPA7	Frame_Shift_Ins	INS	ENST00000368199.3	37	CCDS1159.1																																																																																				0.599	SH2D2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098982.1	NM_003975		T	156777069	-	T	156777068	7	5	706	1	0	1	1	0	0	0	0	0	14238	1203	42	0	101	0	SH2D2A	1	156777068	Frame_Shift_Ins	INS	-	TCGA-KL-8337-01A-11D-2310-10	1774464	156777068	92473553	5	39331											
SPTA1	6708	ucsc.edu;bcgsc.ca	37	1	158641982	158641982	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr1:158641982T>C	ENST00000368147.4	-	11	1535	c.1355A>G	c.(1354-1356)gAa>gGa	p.E452G		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	452					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)					GTCAAGTATTTCCATCTTTGG	0.363																																																0													85	77	79					1																	158641982		1877	4122	5999	SO:0001583	missense	6708			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.1355A>G	1.37:g.158641982T>C	ENSP00000357129:p.Glu452Gly		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	T	9.975	1.226664	0.22542	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.36699	1.24;1.24	5.24	-2.0	0.07433	.	1.622580	0.04359	N	0.357116	T	0.08670	0.0215	N	0.20986	0.625	0.80722	D	1	B	0.02656	0.0	B	0.09377	0.004	T	0.37314	-0.9711	10	0.23891	T	0.37	.	6.0076	0.19554	0.0654:0.1029:0.3444:0.4873	.	452	P02549	SPTA1_HUMAN	G	452	ENSP00000357130:E452G;ENSP00000357129:E452G	ENSP00000357129:E452G	E	-	2	0	SPTA1	156908606	0.001000	0.12720	0.000000	0.03702	0.172000	0.22775	0.236000	0.17967	-0.560000	0.06102	-1.106000	0.02097	GAA		0.363	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		C	158641982	T	C	158641982	3	2	706	1	0	0	0	0	1	0	0	0	15121	1783	62	3	6072	3	SPTA1	1	158641982	Missense_Mutation	SNP	T	TCGA-KL-8337-01A-11D-2310-10	1864914	158641982	90608639	6	39332											
ADAMTS4	9507	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	1	161161010	161161010	+	Missense_Mutation	SNP	C	C	T	rs148170603		TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr1:161161010C>T	ENST00000367996.5	-	9	2860	c.2432G>A	c.(2431-2433)cGc>cAc	p.R811H	ADAMTS4_ENST00000478394.1_5'Flank	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	811	Spacer.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		Tinzaparin(DB06822)	GGGAGTGGGGCGTGGCGTTGA	0.647																																																0								C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	38	37	37		2432	1.8	0	1	dbSNP_134	37	0,8600		0,0,4300	no	missense	ADAMTS4	NM_005099.4	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	811/838	161161010	1,13005	2203	4300	6503	SO:0001583	missense	9507			AB014588	CCDS1223.1	1q31-q32	2008-02-05	2005-08-19		ENSG00000158859	ENSG00000158859		"ADAM metallopeptidases with thrombospondin type 1 motif"	220	protein-coding gene	gene with protein product		603876	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4"			10094461	Standard	NM_005099		Approved	KIAA0688, ADAMTS-2, ADMP-1	uc001fyt.4	O75173	OTTHUMG00000034349	ENST00000367996.5:c.2432G>A	1.37:g.161161010C>T	ENSP00000356975:p.Arg811His		Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	Missense_Mutation	SNP	ENST00000367996.5	37	CCDS1223.1	.	.	.	.	.	.	.	.	.	.	C	8.713	0.912622	0.17907	2.27E-4	0.0	ENSG00000158859	ENST00000367996	T	0.62639	0.01	4.62	1.75	0.24633	.	0.522526	0.18210	N	0.148239	T	0.23370	0.0565	N	0.24115	0.695	0.32533	N	0.534718	P	0.36027	0.533	B	0.29176	0.099	T	0.02173	-1.1201	10	0.45353	T	0.12	.	9.1087	0.36714	0.0:0.7543:0.0:0.2457	.	811	O75173	ATS4_HUMAN	H	811	ENSP00000356975:R811H	ENSP00000356975:R811H	R	-	2	0	ADAMTS4	159427634	0.012000	0.17670	0.003000	0.11579	0.372000	0.29890	0.829000	0.27449	0.289000	0.22422	-0.234000	0.12200	CGC		0.647	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083066.2	NM_005099		T	161161010	C	T	161161010	3	4	706	1	0	0	0	0	1	0	0	0	268	768	27	1	85	1	ADAMTS4	1	161161010	Missense_Mutation	SNP	C	TCGA-KL-8337-01A-11D-2310-10	2519028	161161010	88089611	7	39333											
RGS16	6004	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	182572462	182572462	+	Missense_Mutation	SNP	G	G	T			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr1:182572462G>T	ENST00000367558.5	-	2	205	c.57C>A	c.(55-57)ttC>ttA	p.F19L		NM_002928.3	NP_002919.3	O15492	RGS16_HUMAN	regulator of G-protein signaling 16	19					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)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)			NS(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)	11						GACGTGTCTTGAACTCTTTGG	0.483																																																0													129	117	121					1																	182572462		2203	4300	6503	SO:0001583	missense	6004			U70426	CCDS1348.1	1q25-q31	2008-02-05	2007-08-14		ENSG00000143333	ENSG00000143333		"Regulators of G-protein signaling"	9997	protein-coding gene	gene with protein product		602514	"regulator of G-protein signalling 16"			9469939	Standard	NM_002928		Approved	A28-RGS14, RGS-r	uc001gpl.4	O15492	OTTHUMG00000035212	ENST00000367558.5:c.57C>A	1.37:g.182572462G>T	ENSP00000356529:p.Phe19Leu		B2R4M4|Q5VYN9|Q99701	Missense_Mutation	SNP	ENST00000367558.5	37	CCDS1348.1	.	.	.	.	.	.	.	.	.	.	G	7.895	0.733217	0.15574	.	.	ENSG00000143333	ENST00000367558	T	0.52057	0.68	5.25	4.31	0.51392	.	0.388578	0.29684	N	0.011467	T	0.28995	0.0720	N	0.12637	0.245	0.27994	N	0.935533	B;B	0.12013	0.005;0.0	B;B	0.11329	0.006;0.003	T	0.12066	-1.0562	10	0.20046	T	0.44	.	13.1514	0.59492	0.0:0.3075:0.6925:0.0	.	19;19	B4DVW5;O15492	.;RGS16_HUMAN	L	19	ENSP00000356529:F19L	ENSP00000356529:F19L	F	-	3	2	RGS16	180839085	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.166000	0.31834	1.158000	0.42547	0.561000	0.74099	TTC		0.483	RGS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085188.1	NM_002928		T	182572462	G	T	182572462	3	4	706	1	0	0	0	0	1	0	0	0	13304	1281	45	4	567	4	RGS16	1	182572462	Missense_Mutation	SNP	G	TCGA-KL-8337-01A-11D-2310-10	21411452	182572462	66678159	8	39334											
OR6F1	343169	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	247875280	247875280	+	Missense_Mutation	SNP	C	C	T	rs145498993		TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr1:247875280C>T	ENST00000302084.2	-	1	825	c.778G>A	c.(778-780)Gtc>Atc	p.V260I	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, 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)			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	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;0.0168)			GAGGTGCGGACGTGAAGGAAA	0.532																																																0								C	ILE/VAL	0,4406		0,0,2203	99	95	96		778	1.7	0	1	dbSNP_134	96	1,8599	2.2+/-6.3	0,1,4299	no	missense	OR6F1	NM_001005286.1	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	260/309	247875280	1,13005	2203	4300	6503	SO:0001583	missense	343169			BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"GPCR / Class A : Olfactory receptors"	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.778G>A	1.37:g.247875280C>T	ENSP00000305640:p.Val260Ile		B2RNV6|Q6IF02|Q96R39	Missense_Mutation	SNP	ENST00000302084.2	37	CCDS31095.1	.	.	.	.	.	.	.	.	.	.	C	2.854	-0.237700	0.05944	0.0	1.16E-4	ENSG00000169214	ENST00000302084	T	0.36699	1.24	3.72	1.72	0.24424	GPCR, rhodopsin-like superfamily (1);	0.185901	0.25922	N	0.027428	T	0.22437	0.0541	L	0.28694	0.88	0.09310	N	1	B	0.17852	0.024	B	0.17098	0.017	T	0.23048	-1.0199	10	0.18276	T	0.48	-23.4907	8.8577	0.35238	0.0:0.535:0.3724:0.0926	.	260	Q8NGZ6	OR6F1_HUMAN	I	260	ENSP00000305640:V260I	ENSP00000305640:V260I	V	-	1	0	OR6F1	245941903	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-2.433000	0.01021	0.025000	0.15241	-1.094000	0.02160	GTC		0.532	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096870.1	NM_001005286		T	247875280	C	T	247875280	3	4	706	1	0	0	0	0	1	0	0	0	11203	536	19	1	152	1	OR6F1	1	247875280	Missense_Mutation	SNP	C	TCGA-KL-8337-01A-11D-2310-10	65302818	247875280	1375341	9	39335											
USP34	9736	broad.mit.edu	37	2	61415632	61415632	+	Silent	SNP	G	G	T			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr2:61415632G>T	ENST00000398571.2	-	80	10322	c.10246C>A	c.(10246-10248)Cga>Aga	p.R3416R	AHSA2_ENST00000394457.3_3'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3416					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)			ACTTCCATTCGGTATTCTTTA	0.403																																																0													105	97	99					2																	61415632		1906	4136	6042	SO:0001819	synonymous_variant	9736			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.10246C>A	2.37:g.61415632G>T			A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Silent	SNP	ENST00000398571.2	37	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	.	2.169	-0.390428	0.04932	.	.	ENSG00000115464	ENST00000411912	.	.	.	5.52	0.617	0.17619	.	.	.	.	.	T	0.68540	0.3012	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68194	-0.5473	4	.	.	.	.	15.2903	0.73862	0.0:0.0:0.3806:0.6194	.	.	.	.	Q	1092	.	.	P	-	2	0	USP34	61269136	1.000000	0.71417	0.986000	0.45419	0.766000	0.43426	2.414000	0.44627	0.294000	0.22547	0.591000	0.81541	CCG		0.403	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			T	61415632	G	T	61415632	2	4	706	1	0	0	0	0	0	0	0	1	17070	1124	39	4		4	USP34	2	61415632	Silent	SNP	G	TCGA-KL-8337-01A-11D-2310-10		61415632	181783741	10	39336											
C2orf78	388960	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	2	74043649	74043649	+	Missense_Mutation	SNP	C	C	A			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr2:74043649C>A	ENST00000409561.1	+	3	2420	c.2299C>A	c.(2299-2301)Cca>Aca	p.P767T		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	767										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						TGCAGTCAATCCATCCCGACC	0.542																																																0													109	114	112					2																	74043649		2119	4237	6356	SO:0001583	missense	388960			AC092653, AC136006, AK125975	CCDS46338.1	2p13.2	2008-07-18			ENSG00000187833	ENSG00000187833			34349	protein-coding gene	gene with protein product							Standard	NM_001080474		Approved	FLJ43987, hCG1989538, COG5373	uc002sjr.1	A6NCI8	OTTHUMG00000152819	ENST00000409561.1:c.2299C>A	2.37:g.74043649C>A	ENSP00000387124:p.Pro767Thr			Missense_Mutation	SNP	ENST00000409561.1	37	CCDS46338.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.709494	0.30322	.	.	ENSG00000187833	ENST00000409561;ENST00000342345	T	0.44482	0.92	5.23	-1.87	0.07737	.	0.889887	0.09394	N	0.808096	T	0.31638	0.0803	L	0.59436	1.845	0.09310	N	1	P	0.38078	0.617	B	0.30855	0.121	T	0.24190	-1.0167	10	0.87932	D	0	0.0072	5.999	0.19509	0.0:0.4846:0.2746:0.2408	.	767	A6NCI8	CB078_HUMAN	T	767;737	ENSP00000387124:P767T	ENSP00000340692:P737T	P	+	1	0	C2orf78	73897157	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.473000	0.02339	-0.235000	0.09767	0.563000	0.77884	CCA		0.542	C2orf78-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000328083.1	NM_001080474		A	74043649	C	A	74043649	3	1	706	1	0	0	0	0	1	0	0	0	2197	855	30	4	2309	4	C2orf78	2	74043649	Missense_Mutation	SNP	C	TCGA-KL-8337-01A-11D-2310-10	12628017	74043649	169155724	11	39337											
DAZL	1618	broad.mit.edu;mdanderson.org	37	3	16633629	16633629	+	Silent	SNP	C	C	T			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr3:16633629C>T	ENST00000399444.2	-	10	1055	c.762G>A	c.(760-762)acG>acA	p.T254T	DAZL_ENST00000250863.8_Silent_p.T274T	NM_001351.3	NP_001342.2	Q92904	DAZL_HUMAN	deleted in azoospermia-like	254					female meiosis II (GO:0007147)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|oocyte maturation (GO:0001556)|positive regulation of meiosis (GO:0045836)|positive regulation of translational initiation (GO:0045948)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|translation activator activity (GO:0008494)	p.T254T(1)	RAF1/DAZL(2)	endometrium(1)|large_intestine(3)|lung(4)|prostate(3)	11						AAGATACCACCGTTTGTATGC	0.363																																																1	Substitution - coding silent(1)	lung(1)											239	241	241					3																	16633629		2203	4300	6503	SO:0001819	synonymous_variant	1618			BC027595	CCDS43059.1, CCDS54556.1	3p24	2013-02-12			ENSG00000092345	ENSG00000092345		"RNA binding motif (RRM) containing"	2685	protein-coding gene	gene with protein product		601486		DAZLA		8896558	Standard	NM_001351		Approved	DAZH, SPGYLA, MGC26406, DAZL1	uc003cbb.3	Q92904	OTTHUMG00000157050	ENST00000399444.2:c.762G>A	3.37:g.16633629C>T			O15396|Q5HYB4|Q92909	Silent	SNP	ENST00000399444.2	37	CCDS43059.1																																																																																				0.363	DAZL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347261.2	NM_001351		T	16633629	C	T	16633629	2	4	706	1	0	0	0	0	0	0	0	1	4248	639	23	1		1	DAZL	3	16633629	Silent	SNP	C	TCGA-KL-8337-01A-11D-2310-10		16633629	181388801	12	39338											
SETD2	29072	broad.mit.edu	37	3	47162042	47162042	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr3:47162042T>C	ENST00000409792.3	-	3	4126	c.4084A>G	c.(4084-4086)Aaa>Gaa	p.K1362E		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1362					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)		CCCTTGTCTTTCTGAAGGGAT	0.383			"N, F, S, Mis"		clear cell renal carcinoma																																		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0													66	70	68					3																	47162042		2203	4300	6503	SO:0001583	missense	29072			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.4084A>G	3.37:g.47162042T>C	ENSP00000386759:p.Lys1362Glu		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	T	11.82	1.752143	0.31046	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	D;T	0.89050	-2.46;1.39	5.32	4.15	0.48705	.	0.095949	0.45126	D	0.000397	T	0.79387	0.4437	N	0.24115	0.695	0.28142	N	0.929768	B;B	0.27229	0.085;0.172	B;B	0.22386	0.026;0.039	T	0.72308	-0.4332	10	0.66056	D	0.02	.	7.1006	0.25336	0.0:0.0736:0.1495:0.7769	.	1362;1362	F2Z317;Q9BYW2	.;SETD2_HUMAN	E	1362;1362;1362;1318	ENSP00000386759:K1362E;ENSP00000416401:K1318E	ENSP00000386759:K1362E	K	-	1	0	SETD2	47137046	0.567000	0.26626	1.000000	0.80357	0.737000	0.42083	1.203000	0.32284	1.011000	0.39340	0.460000	0.39030	AAA		0.383	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		C	47162042	T	C	47162042	3	2	706	1	0	0	0	0	1	0	0	0	14137	1792	62	3	3686	3	SETD2	3	47162042	Missense_Mutation	SNP	T	TCGA-KL-8337-01A-11D-2310-10	30528413	47162042	150860388	13	39339											
TMEM108	66000	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	3	133099424	133099424	+	Missense_Mutation	SNP	C	C	A			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr3:133099424C>A	ENST00000321871.6	+	4	1079	c.869C>A	c.(868-870)aCc>aAc	p.T290N	TMEM108_ENST00000393130.3_Missense_Mutation_p.T290N|TMEM108_ENST00000515826.1_Missense_Mutation_p.T290N|TMEM108_ENST00000508711.1_Intron	NM_001136469.1|NM_023943.2	NP_001129941.1|NP_076432.1	Q6UXF1	TM108_HUMAN	transmembrane protein 108	290						integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GGTGGTTCTACCTTCACCAGC	0.647																																																0													37	35	36					3																	133099424		2203	4300	6503	SO:0001583	missense	66000			AL136578	CCDS33858.1, CCDS75012.1	3q22.1	2014-04-07			ENSG00000144868	ENSG00000144868			28451	protein-coding gene	gene with protein product	"cancer/testis antigen 124"					11214970	Standard	XM_005247726		Approved	MGC3040, CT124	uc003epi.3	Q6UXF1	OTTHUMG00000159685	ENST00000321871.6:c.869C>A	3.37:g.133099424C>A	ENSP00000324651:p.Thr290Asn		D3DNC9|Q9BQH1|Q9BW81|Q9C0H3	Missense_Mutation	SNP	ENST00000321871.6	37	CCDS33858.1	.	.	.	.	.	.	.	.	.	.	C	8.898	0.955594	0.18507	.	.	ENSG00000144868	ENST00000321871;ENST00000393130;ENST00000515826	T;T;T	0.46451	0.89;0.89;0.87	3.84	1.87	0.25490	.	0.837931	0.10125	N	0.712876	T	0.34337	0.0894	L	0.51422	1.61	0.09310	N	1	B;B	0.11235	0.004;0.002	B;B	0.12156	0.007;0.002	T	0.28364	-1.0046	10	0.33141	T	0.24	-1.9903	6.0362	0.19708	0.3953:0.5047:0.0:0.0999	.	290;290	E9PB58;Q6UXF1	.;TM108_HUMAN	N	290	ENSP00000324651:T290N;ENSP00000376838:T290N;ENSP00000423338:T290N	ENSP00000324651:T290N	T	+	2	0	TMEM108	134582114	0.001000	0.12720	0.001000	0.08648	0.257000	0.26127	1.219000	0.32479	0.298000	0.22638	0.561000	0.74099	ACC		0.647	TMEM108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356907.2	NM_023943		A	133099424	C	A	133099424	3	1	706	1	0	0	0	0	1	0	0	0	16029	507	18	4	875	4	TMEM108	3	133099424	Missense_Mutation	SNP	C	TCGA-KL-8337-01A-11D-2310-10	85937382	133099424	64923006	14	39340											
FAM43A	131583	broad.mit.edu	37	3	194407863	194407863	+	Missense_Mutation	SNP	G	G	T			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr3:194407863G>T	ENST00000329759.4	+	1	1242	c.308G>T	c.(307-309)gGc>gTc	p.G103V		NM_153690.4	NP_710157.2	Q8N2R8	FA43A_HUMAN	family with sequence similarity 43, member A	103										breast(2)|central_nervous_system(1)|lung(6)|skin(1)	10	all_cancers(143;2.04e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.147)	OV - Ovarian serous cystadenocarcinoma(49;8.37e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.78e-05)		AGCGAGGCGGGCCGTCAGGGC	0.682																																																0													40	39	39					3																	194407863		2203	4299	6502	SO:0001583	missense	131583			AK074503	CCDS33923.1	3q29	2004-07-28			ENSG00000185112	ENSG00000185112			26888	protein-coding gene	gene with protein product						12477932	Standard	NM_153690		Approved	FLJ90022	uc003fuj.3	Q8N2R8	OTTHUMG00000156016	ENST00000329759.4:c.308G>T	3.37:g.194407863G>T	ENSP00000371397:p.Gly103Val		A3KME2|Q8IXP4|Q8WZ07	Missense_Mutation	SNP	ENST00000329759.4	37	CCDS33923.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.736427	0.89482	.	.	ENSG00000185112	ENST00000329759	T	0.66638	-0.22	5.16	5.16	0.70880	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.81014	0.4735	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.83152	-0.0103	10	0.87932	D	0	-26.1764	17.6527	0.88169	0.0:0.0:1.0:0.0	.	103	Q8N2R8	FA43A_HUMAN	V	103	ENSP00000371397:G103V	ENSP00000371397:G103V	G	+	2	0	FAM43A	195889152	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.316000	0.96319	2.403000	0.81681	0.455000	0.32223	GGC		0.682	FAM43A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342734.1	NM_153690		T	194407863	G	T	194407863	3	4	706	1	0	0	0	0	1	0	0	0	5564	1203	42	4	310	4	FAM43A	3	194407863	Missense_Mutation	SNP	G	TCGA-KL-8337-01A-11D-2310-10	61308439	194407863	3614567	15	39341											
SRD5A3	79644	broad.mit.edu	37	4	56212670	56212671	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr4:56212670_56212671insG	ENST00000264228.4	+	1	395_396	c.167_168insG	c.(166-171)aagtgtfs	p.C57fs		NM_024592.4	NP_078868.1	Q9H8P0	PORED_HUMAN	steroid 5 alpha-reductase 3	57					androgen biosynthetic process (GO:0006702)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|polyprenol catabolic process (GO:0016095)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|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)	3-oxo-5-alpha-steroid 4-dehydrogenase activity (GO:0003865)|cholestenone 5-alpha-reductase activity (GO:0047751)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)	p.K56K(1)		cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.0179)		Spironolactone(DB00421)	GGGAAAACCAAGTGTGGGGAGC	0.693																																																1	Substitution - coding silent(1)	lung(1)																																								SO:0001589	frameshift_variant	79644			AK023414	CCDS3498.1	4q12	2009-07-21			ENSG00000128039	ENSG00000128039			25812	protein-coding gene	gene with protein product		611715				17986282	Standard	NM_024592		Approved	FLJ13352, SRD5A2L, SRD5A2L1	uc003hau.3	Q9H8P0	OTTHUMG00000128733	ENST00000264228.4:c.168dupG	4.37:g.56212671_56212671dupG	ENSP00000264228:p.Cys57fs		Q4W5Q6	Frame_Shift_Ins	INS	ENST00000264228.4	37	CCDS3498.1																																																																																				0.693	SRD5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250644.2	NM_024592		G	56212671	-	G	56212670	7	5	706	1	0	1	1	0	0	0	0	0	15145	72	3	0	169	0	SRD5A3	4	56212670	Frame_Shift_Ins	INS	-	TCGA-KL-8337-01A-11D-2310-10		56212670	134941606	16	39342											
AREG	374	broad.mit.edu;mdanderson.org	37	4	75314901	75314901	+	Missense_Mutation	SNP	T	T	G			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr4:75314901T>G	ENST00000395748.3	+	3	660	c.448T>G	c.(448-450)Ttt>Gtt	p.F150V	AREG_ENST00000502307.1_Missense_Mutation_p.F150V|AREG_ENST00000511560.1_3'UTR|AREG_ENST00000264487.2_Missense_Mutation_p.F150V	NM_001657.2	NP_001648.1	P15514	AREG_HUMAN	amphiregulin	150	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dichotomous subdivision of terminal units involved in mammary gland duct morphogenesis (GO:0060598)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|G-protein coupled receptor signaling pathway (GO:0007186)|glial cell proliferation (GO:0014009)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in thelarche (GO:0060744)|negative regulation of osteoblast differentiation (GO:0045668)|neuron projection development (GO:0031175)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of phosphorylation (GO:0042327)|response to cAMP (GO:0051591)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to peptide hormone (GO:0043434)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	growth factor activity (GO:0008083)			lung(4)	4			Lung(101;0.196)			TAATGCAGAATTTCAAAATTT	0.313																																																0													7	8	7					4																	75314901		1825	3986	5811	SO:0001583	missense	374			M30704	CCDS3565.1	4q13.3	2014-06-19	2008-08-01		ENSG00000109321	ENSG00000109321		"Endogenous ligands"	651	protein-coding gene	gene with protein product		104640	"schwannoma-derived growth factor", "amphiregulin B"	SDGF, AREGB			Standard	NM_001657		Approved		uc021xpc.1	P15514	OTTHUMG00000130006	ENST00000395748.3:c.448T>G	4.37:g.75314901T>G	ENSP00000379097:p.Phe150Val		Q5U026	Missense_Mutation	SNP	ENST00000395748.3	37	CCDS3565.1	.	.	.	.	.	.	.	.	.	.	T	16.48	3.134212	0.56828	.	.	ENSG00000109321	ENST00000395748;ENST00000264487;ENST00000502307	T;T;T	0.12879	2.64;2.64;2.64	4.94	4.94	0.65067	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.169682	0.53938	D	0.000048	T	0.29256	0.0728	L	0.60455	1.87	0.34369	D	0.691807	D	0.76494	0.999	D	0.80764	0.994	T	0.42120	-0.9470	10	0.66056	D	0.02	-7.351	7.6046	0.28095	0.0:0.0967:0.0:0.9033	.	150	P15514	AREG_HUMAN	V	150	ENSP00000379097:F150V;ENSP00000264487:F150V;ENSP00000421414:F150V	ENSP00000264487:F150V	F	+	1	0	AREG	75533765	0.881000	0.30235	0.997000	0.53966	0.767000	0.43475	3.655000	0.54460	1.974000	0.57490	0.455000	0.32223	TTT		0.313	AREG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252277.1			G	75314901	T	G	75314901	3	3	706	1	0	0	0	0	1	0	0	0	843	1493	52	5	458	5	AREG	4	75314901	Missense_Mutation	SNP	T	TCGA-KL-8337-01A-11D-2310-10	19102231	75314901	115839375	17	39343											
FRG1	2483	mdanderson.org	37	4	190873347	190873347	+	Missense_Mutation	SNP	A	A	G	rs73024948		TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr4:190873347A>G	ENST00000226798.4	+	3	386	c.164A>G	c.(163-165)gAa>gGa	p.E55G	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	55					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)		AACTTTGGTGAAATTTCAGGA	0.333																																																0													83	96	92					4																	190873347		2201	4296	6497	SO:0001583	missense	2483			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.164A>G	4.37:g.190873347A>G	ENSP00000226798:p.Glu55Gly		A8K775	Missense_Mutation	SNP	ENST00000226798.4	37	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	19.43	3.825859	0.71143	.	.	ENSG00000109536	ENST00000226798	T	0.34859	1.34	3.47	3.47	0.39725	.	0.050175	0.85682	D	0.000000	T	0.43656	0.1257	M	0.83953	2.67	0.80722	D	1	P	0.40578	0.722	B	0.41510	0.359	T	0.53851	-0.8380	10	0.72032	D	0.01	-24.5471	10.6186	0.45465	1.0:0.0:0.0:0.0	.	55	Q14331	FRG1_HUMAN	G	55	ENSP00000226798:E55G	ENSP00000226798:E55G	E	+	2	0	FRG1	191110341	1.000000	0.71417	0.995000	0.50966	0.984000	0.73092	6.760000	0.74939	1.815000	0.52974	0.441000	0.28932	GAA		0.333	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		G	190873347	A	G	190873347	3	3	706	1	0	0	0	0	1	0	0	0	6048	246	9	3	174	3	FRG1	4	190873347	Missense_Mutation	SNP	A	TCGA-KL-8337-01A-11D-2310-10	115558446	190873347	280929	18	39344											
HTR4	3360	ucsc.edu	37	5	147929716	147929716	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr5:147929716A>G	ENST00000377888.3	-	3	274	c.136T>C	c.(136-138)Tgg>Cgg	p.W46R	HTR4_ENST00000354217.2_Missense_Mutation_p.W46R|HTR4_ENST00000521530.1_Missense_Mutation_p.W46R|HTR4_ENST00000362016.2_Missense_Mutation_p.W46R|HTR4_ENST00000360693.3_Missense_Mutation_p.W46R|HTR4_ENST00000520514.1_Missense_Mutation_p.W46R|HTR4_ENST00000521735.1_Missense_Mutation_p.W46R|HTR4_ENST00000517929.1_Missense_Mutation_p.W46R|HTR4_ENST00000519495.1_5'UTR|HTR4_ENST00000314512.6_Missense_Mutation_p.W46R	NM_000870.5	NP_000861.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	46					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)	TGCCTGTCCCAGCACACAGCC	0.542																																					GBM(120;370 1604 14007 17804 41573)											0													106	75	86					5																	147929716		2203	4300	6503	SO:0001583	missense	3360			Y08756	CCDS4291.1, CCDS34270.1, CCDS34271.1, CCDS34272.1, CCDS34273.1, CCDS34273.2, CCDS75353.1	5q31-q33	2012-08-08	2012-02-03		ENSG00000164270	ENSG00000164270		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5299	protein-coding gene	gene with protein product		602164	"5-hydroxytryptamine (serotonin) receptor 4"			9371406, 9276448	Standard	NM_199453		Approved	5-HT4	uc021yfj.1	Q13639	OTTHUMG00000129931	ENST00000377888.3:c.136T>C	5.37:g.147929716A>G	ENSP00000367120:p.Trp46Arg		C4WYH4|Q546Q1|Q684M0|Q712M9|Q96KH9|Q96KI0|Q9H199|Q9NY73|Q9UBM6|Q9UBT4|Q9UE22|Q9UE23|Q9UQR6	Missense_Mutation	SNP	ENST00000377888.3	37	CCDS4291.1	.	.	.	.	.	.	.	.	.	.	A	1.046	-0.677331	0.03378	.	.	ENSG00000164270	ENST00000521530;ENST00000354217;ENST00000314512;ENST00000521735;ENST00000517929;ENST00000520514;ENST00000377888;ENST00000360693;ENST00000362016	T;T;T;T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48	5.61	0.0268	0.14151	GPCR, rhodopsin-like superfamily (1);	0.139010	0.64402	N	0.000005	T	0.04724	0.0128	N	0.00074	-2.255	0.24527	N	0.994136	B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B	0.04013	0.0;0.0;0.001;0.0;0.0;0.0;0.0	T	0.44283	-0.9338	10	0.02654	T	1	.	10.5223	0.44927	0.1218:0.0:0.5811:0.297	.	46;46;46;46;46;46;46	C4WYH4;Q13639;Q712M9;Q13639-6;Q13639-3;Q13639-2;Q684M0	.;5HT4R_HUMAN;.;.;.;.;.	R	46	ENSP00000428320:W46R;ENSP00000346156:W46R;ENSP00000314906:W46R;ENSP00000430979:W46R;ENSP00000435904:W46R;ENSP00000427913:W46R;ENSP00000367120:W46R;ENSP00000353915:W46R;ENSP00000355037:W46R	ENSP00000314906:W46R	W	-	1	0	HTR4	147909909	1.000000	0.71417	0.997000	0.53966	0.966000	0.64601	1.802000	0.38853	-0.202000	0.10268	-1.294000	0.01345	TGG		0.542	HTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252187.2	NM_000870		G	147929716	A	G	147929716	3	3	706	1	0	0	0	0	1	0	0	0	7451	188	7	3	1346	3	HTR4	5	147929716	Missense_Mutation	SNP	A	TCGA-KL-8337-01A-11D-2310-10		147929716	32985544	19	39345											
HLA-DRB1	3123	bcgsc.ca	37	6	32551957	32551958	+	Missense_Mutation	DNP	GC	GC	CT	rs200320734|rs1064592|rs568948309|rs9269942	byFrequency	TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr6:32551957_32551958GC>CT	ENST00000360004.5	-	2	403_404	c.298_299GC>AG	c.(298-300)GCg>AGg	p.A100R		NM_002124.3	NP_002115.2	Q30167	2B1A_HUMAN	major histocompatibility complex, class II, DR beta 1	100	Beta-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						CGCGGCCCGCGCCTGCTCCAGG	0.678										Multiple Myeloma(14;0.17)																																						0																																										SO:0001583	missense	3123			AJ297583	CCDS47409.1	6p21.3	2013-01-11			ENSG00000196126	ENSG00000196126		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4948	protein-coding gene	gene with protein product		142857		HLA-DR1B			Standard	NM_001243965		Approved		uc011eri.2	P01911	OTTHUMG00000031196	ENST00000360004.5:c.298_299delinsCT	6.37:g.32551957_32551958delinsCT	ENSP00000353099:p.Ala100Arg		P01914|Q9MYF5	Missense_Mutation	SNP	ENST00000360004.5	37	CCDS47409.1																																																																																				0.678	HLA-DRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076393.3	NM_002124		CT	32551958	GC	CT	32551957	3	2	706	1	0	0	0	0	1	0	0	0	7210	1087	38	4	521	4	HLA-DRB1	6	32551957	Missense_Mutation	DNP	GC	TCGA-KL-8337-01A-11D-2310-10		32551957	138563110	20	39346											
TBCC	6903	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	6	42713337	42713337	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr6:42713337G>A	ENST00000372876.1	-	1	497	c.475C>T	c.(475-477)Ccc>Tcc	p.P159S	TBCC_ENST00000244625.2_Missense_Mutation_p.P159S	NM_003192.2	NP_003183	Q15814	TBCC_HUMAN	tubulin folding cofactor C	159					'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)			ACTGCCGGGGGGATGCCAGGA	0.637																																																0													12	14	13					6																	42713337		2196	4291	6487	SO:0001583	missense	6903			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.475C>T	6.37:g.42713337G>A	ENSP00000361967:p.Pro159Ser		Q53Y43|Q5T787	Missense_Mutation	SNP	ENST00000372876.1	37	CCDS4872.1	.	.	.	.	.	.	.	.	.	.	G	0.019	-1.449022	0.01080	.	.	ENSG00000124659	ENST00000372876;ENST00000244625	T;T	0.75154	-0.91;-0.91	1.03	-1.1	0.09872	.	0.817042	0.11186	N	0.590398	T	0.32164	0.0820	L	0.35854	1.095	0.32258	N	0.570472	B	0.12013	0.005	B	0.11329	0.006	T	0.01484	-1.1343	10	0.10111	T	0.7	-13.7078	2.3667	0.04321	0.0:0.319:0.3634:0.3176	.	159	Q15814	TBCC_HUMAN	S	159	ENSP00000361967:P159S;ENSP00000244625:P159S	ENSP00000244625:P159S	P	-	1	0	TBCC	42821315	0.001000	0.12720	0.561000	0.28357	0.392000	0.30506	0.015000	0.13355	0.308000	0.22923	0.313000	0.20887	CCC		0.637	TBCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040559.1	NM_003192		A	42713337	G	A	42713337	3	1	706	1	0	0	0	0	1	0	0	0	15636	1232	43	2	569	2	TBCC	6	42713337	Missense_Mutation	SNP	G	TCGA-KL-8337-01A-11D-2310-10	10161380	42713337	128401730	21	39347											
PEX6	5190	hgsc.bcm.edu	37	6	42946490	42946490	+	Silent	SNP	C	C	A	rs9462858	byFrequency	TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr6:42946490C>A	ENST00000304611.8	-	1	468	c.399G>T	c.(397-399)gtG>gtT	p.V133V	PEX6_ENST00000244546.4_Silent_p.V133V	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	133					ATP catabolic process (GO:0006200)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix, translocation (GO:0016561)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|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;0.0562)			GCGGTCCGGGCACTGGGAGGG	0.746													C|||	1662	0.331869	0.3691	0.3516	5008	,	,		10923	0.1002		0.4612	False		,,,				2504	0.3732															0								C		1002,2080		214,574,753	2	3	3	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	399	2.1	0.9	6	dbSNP_119	3	2653,4001		636,1381,1310	no	coding-synonymous	PEX6	NM_000287.3		850,1955,2063	AA,AC,CC		39.8708,32.5114,37.5411		133/981	42946490	3655,6081	1541	3327	4868	SO:0001819	synonymous_variant	5190			U56602	CCDS4877.1	6p22-p11	2010-04-21			ENSG00000124587	ENSG00000124587		"ATPases / AAA-type"	8859	protein-coding gene	gene with protein product		601498				8670792	Standard	NM_000287		Approved	PXAAA1, PAF-2	uc003otf.3	Q13608	OTTHUMG00000014713	ENST00000304611.8:c.399G>T	6.37:g.42946490C>A			Q5T8W1|Q8WYQ0|Q8WYQ1|Q8WYQ2|Q99476	Silent	SNP	ENST00000304611.8	37	CCDS4877.1																																																																																				0.746	PEX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040569.1	NM_000287		A	42946490	C	A	42946490	2	1	706	1	0	0	0	0	0	0	0	1	11752	697	25	4		4	PEX6	6	42946490	Silent	SNP	C	TCGA-KL-8337-01A-11D-2310-10	233153	42946490	128168577	22	39348											
PERP	64065	ucsc.edu	37	6	138428444	138428444	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr6:138428444G>A	ENST00000421351.3	-	1	204	c.34C>T	c.(34-36)Cgc>Tgc	p.R12C		NM_022121.4	NP_071404.2	Q96FX8	PERP_HUMAN	PERP, TP53 apoptosis effector	12					activation of cysteine-type endopeptidase activity (GO:0097202)|amelogenesis (GO:0097186)|desmosome organization (GO:0002934)|heterotypic cell-cell adhesion (GO:0034113)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of proteolysis (GO:0045862)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(1)|lung(1)|prostate(1)	5	Breast(32;0.0799)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000878)|OV - Ovarian serous cystadenocarcinoma(155;0.000997)		AGGATCCAGCGGCAGCGCTCG	0.741																																																0													18	24	22					6																	138428444		2085	4108	6193	SO:0001583	missense	64065			AF317550	CCDS5188.1	6q24	2014-04-29			ENSG00000112378	ENSG00000112378			17637	protein-coding gene	gene with protein product	"keratinocyte associated protein 1"	609301				11062687	Standard	NM_022121		Approved	PIGPC1, dJ496H19.1, KCP1, THW, KRTCAP1	uc003qht.2	Q96FX8	OTTHUMG00000015668	ENST00000421351.3:c.34C>T	6.37:g.138428444G>A	ENSP00000397157:p.Arg12Cys		B2RB73|E1P590|Q8IWS3|Q8N1J6|Q8NC16|Q9H1C5|Q9H230	Missense_Mutation	SNP	ENST00000421351.3	37	CCDS5188.1	.	.	.	.	.	.	.	.	.	.	g	22.5	4.294854	0.81025	.	.	ENSG00000112378	ENST00000421351;ENST00000265603	T	0.55052	0.54	4.14	-2.01	0.07410	.	0.051614	0.64402	D	0.000001	T	0.44623	0.1302	L	0.27053	0.805	0.58432	D	0.999991	D	0.89917	1.0	D	0.78314	0.991	T	0.53892	-0.8374	10	0.87932	D	0	-7.0466	13.4994	0.61445	0.0:0.0:0.7533:0.2467	.	12	Q96FX8	PERP_HUMAN	C	12	ENSP00000397157:R12C	ENSP00000265603:R12C	R	-	1	0	PERP	138470137	0.756000	0.28383	0.998000	0.56505	0.987000	0.75469	-0.511000	0.06321	-0.142000	0.11354	-0.408000	0.06270	CGC		0.741	PERP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042423.2	NM_022121		A	138428444	G	A	138428444	3	1	706	1	0	0	0	0	1	0	0	0	11734	1116	39	1	559	1	PERP	6	138428444	Missense_Mutation	SNP	G	TCGA-KL-8337-01A-11D-2310-10	95481954	138428444	32686623	23	39349											
C7orf27	221927	mdanderson.org	37	7	2578285	2578285	+	Silent	SNP	G	G	A	rs142346283	byFrequency	TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr7:2578285G>A	ENST00000340611.4	-	14	2140	c.1884C>T	c.(1882-1884)gcC>gcT	p.A628A	BRAT1_ENST00000473879.1_5'UTR	NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	628					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						CCGTGTCCTGGGCCGCGTCGG	0.697													G|||	33	0.00658946	0.0227	0.0043	5008	,	,		13062	0.0		0.0	False		,,,				2504	0.0															0								G		86,4228		0,86,2071	15	18	17		1884	-8.1	0	7	dbSNP_134	17	1,8423		0,1,4211	no	coding-synonymous	BRAT1	NM_152743.3		0,87,6282	AA,AG,GG		0.0119,1.9935,0.683		628/822	2578285	87,12651	2157	4212	6369	SO:0001819	synonymous_variant	221927			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.1884C>T	7.37:g.2578285G>A			A4D200|C9JY24|Q8IW85|Q8IZ43|Q8WVR8|Q96IV9|Q9H7J8|Q9UFA3	Silent	SNP	ENST00000340611.4	37	CCDS5334.1																																																																																				0.697	BRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239305.2	NM_152743		A	2578285	G	A	2578285	2	1	706	1	0	0	0	0	0	0	0	1	2384	1219	43	2		2	C7orf27	7	2578285	Silent	SNP	G	TCGA-KL-8337-01A-11D-2310-10		2578285	156560378	24	39350											
C1GALT1	56913	broad.mit.edu	37	7	7278070	7278070	+	Silent	SNP	A	A	G			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr7:7278070A>G	ENST00000223122.3	+	2	467	c.405A>G	c.(403-405)aaA>aaG	p.K135K	C1GALT1_ENST00000436587.2_Silent_p.K135K|C1GALT1_ENST00000402468.3_Silent_p.K135K			Q9NS00	C1GLT_HUMAN	core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1	135					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)		TGGGACTGAAAACCAAAGAAG	0.378																																																0													67	68	67					7																	7278070		2203	4300	6503	SO:0001819	synonymous_variant	56913			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.405A>G	7.37:g.7278070A>G			Q96QH4|Q9BTU1	Silent	SNP	ENST00000223122.3	37	CCDS5355.1																																																																																				0.378	C1GALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324379.2	NM_020156		G	7278070	A	G	7278070	2	3	706	1	0	0	0	0	0	0	0	1	1954	11	1	3		3	C1GALT1	7	7278070	Silent	SNP	A	TCGA-KL-8337-01A-11D-2310-10	4699785	7278070	151860593	25	39351											
TMEM196	256130	broad.mit.edu	37	7	19769017	19769017	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr7:19769017delT	ENST00000405764.3	-	2	888	c.192delA	c.(190-192)aaafs	p.K64fs	TMEM196_ENST00000405844.1_Frame_Shift_Del_p.K64fs|TMEM196_ENST00000493519.1_5'UTR|TMEM196_ENST00000422233.1_5'UTR|TMEM196_ENST00000433641.1_5'UTR	NM_152774.3	NP_689987.3	Q5HYL7	TM196_HUMAN	transmembrane protein 196	70						integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(4)	6						CAAGTCCTGATTTTTTTTTGG	0.353																																																0										11,11,1946		3,0,5,4,3,969	161	137	144			5.4	1	7		148	5,6,4003		0,0,5,0,6,1996	no	codingComplex	TMEM196	NM_152774.3		3,0,10,4,9,2965	A1A1,A1A2,A1R,A2A2,A2R,RR		0.274,1.1179,0.5517			19769017	16,17,5949	692	1591	2283	SO:0001589	frameshift_variant	256130				CCDS34607.2	7p15.3	2007-11-21			ENSG00000173452	ENSG00000173452			22431	protein-coding gene	gene with protein product							Standard	NM_152774		Approved	MGC42090	uc011jyg.2	Q5HYL7	OTTHUMG00000152504	ENST00000405764.3:c.192delA	7.37:g.19769017delT	ENSP00000384234:p.Lys64fs		Q8N6I6	Frame_Shift_Del	DEL	ENST00000405764.3	37	CCDS34607.2																																																																																				0.353	TMEM196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326499.1	NM_152774		-	19769017	T	-	19769017	7	5	706	1	0	1	0	1	0	0	0	0	16123	1490	52	0	338	0	TMEM196	7	19769017	Frame_Shift_Del	DEL	T	TCGA-KL-8337-01A-11D-2310-10	12490947	19769017	139369646	26	39352											
DNAJB9	4189	broad.mit.edu	37	7	108212318	108212318	+	Missense_Mutation	SNP	G	G	T			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr7:108212318G>T	ENST00000249356.3	+	2	694	c.148G>T	c.(148-150)Gcc>Tcc	p.A50S	THAP5_ENST00000438865.1_5'Flank|DNAJB9_ENST00000465725.1_3'UTR|THAP5_ENST00000493722.1_5'Flank|THAP5_ENST00000313516.5_5'Flank|THAP5_ENST00000415914.3_5'Flank	NM_012328.2	NP_036460.1	Q9UBS3	DNJB9_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 9	50	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				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-associated ubiquitin-dependent protein catabolic process (GO:0030433)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	misfolded protein binding (GO:0051787)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13						TCACAAGTTGGCCATGAAGTA	0.413																																																0													99	107	105					7																	108212318		2203	4300	6503	SO:0001583	missense	4189			AB026908	CCDS5752.1	7q31	2011-09-02			ENSG00000128590	ENSG00000128590		"Heat shock proteins / DNAJ (HSP40)"	6968	protein-coding gene	gene with protein product		602634		MDG1		9533036, 11147971	Standard	NM_012328		Approved		uc003vfn.3	Q9UBS3	OTTHUMG00000154866	ENST00000249356.3:c.148G>T	7.37:g.108212318G>T	ENSP00000249356:p.Ala50Ser			Missense_Mutation	SNP	ENST00000249356.3	37	CCDS5752.1	.	.	.	.	.	.	.	.	.	.	G	35	5.477236	0.96291	.	.	ENSG00000128590	ENST00000249356	T	0.36878	1.23	5.34	5.34	0.76211	Heat shock protein DnaJ, N-terminal (5);	0.000000	0.85682	D	0.000000	T	0.45034	0.1322	N	0.17312	0.475	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.37686	-0.9695	9	.	.	.	.	18.035	0.89298	0.0:0.0:1.0:0.0	.	50	Q9UBS3	DNJB9_HUMAN	S	50	ENSP00000249356:A50S	.	A	+	1	0	DNAJB9	107999554	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.471000	0.97696	2.483000	0.83821	0.563000	0.77884	GCC		0.413	DNAJB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337414.1			T	108212318	G	T	108212318	3	4	706	1	0	0	0	0	1	0	0	0	4629	1203	42	4	150	4	DNAJB9	7	108212318	Missense_Mutation	SNP	G	TCGA-KL-8337-01A-11D-2310-10	88443301	108212318	50926345	27	39353											
AASS	10157	broad.mit.edu	37	7	121755170	121755170	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr7:121755170A>G	ENST00000393376.1	-	8	1096	c.1001T>C	c.(1000-1002)tTc>tCc	p.F334S	AASS_ENST00000473553.1_Intron|AASS_ENST00000417368.2_Missense_Mutation_p.F334S			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	334	Lysine-ketoglutarate reductase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						AGCAGGTGAGAACTTGCCCGG	0.488																																																0													126	117	120					7																	121755170		2203	4300	6503	SO:0001583	missense	10157			AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.1001T>C	7.37:g.121755170A>G	ENSP00000377040:p.Phe334Ser		O95462	Missense_Mutation	SNP	ENST00000393376.1	37	CCDS5783.1	.	.	.	.	.	.	.	.	.	.	A	7.479	0.648272	0.14516	.	.	ENSG00000008311	ENST00000393376;ENST00000417368	.	.	.	5.68	-0.0723	0.13740	Alanine dehydrogenase/PNT, C-terminal (1);	0.798338	0.12272	N	0.483760	T	0.06917	0.0176	N	0.00289	-1.7	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38650	-0.9651	9	0.07813	T	0.8	0.0617	11.6038	0.51020	0.2361:0.0:0.7639:0.0	.	334	Q9UDR5	AASS_HUMAN	S	334	.	ENSP00000351834:F334S	F	-	2	0	AASS	121542406	0.999000	0.42202	0.792000	0.32020	0.453000	0.32348	2.070000	0.41491	-0.325000	0.08577	-0.256000	0.11100	TTC		0.488	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763		G	121755170	A	G	121755170	3	3	706	1	0	0	0	0	1	0	0	0	24	246	9	3	1843	3	AASS	7	121755170	Missense_Mutation	SNP	A	TCGA-KL-8337-01A-11D-2310-10	13542852	121755170	37383493	28	39354											
DENND2A	27147	ucsc.edu	37	7	140301430	140301430	+	Silent	SNP	A	A	C			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr7:140301430A>C	ENST00000275884.6	-	2	1185	c.768T>G	c.(766-768)ggT>ggG	p.G256G	DENND2A_ENST00000492720.1_Silent_p.G256G|DENND2A_ENST00000496613.1_Silent_p.G256G|DENND2A_ENST00000537639.1_Silent_p.G256G			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	256					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.G256G(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TTGTGGGGGAACCCTCCGAGC	0.587																																																1	Substitution - coding silent(1)	kidney(1)											114	120	118					7																	140301430		1896	4112	6008	SO:0001819	synonymous_variant	27147			AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"DENN/MADD domain containing"	22212	protein-coding gene	gene with protein product			"KIAA1277"	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.768T>G	7.37:g.140301430A>C			C9JUI3|Q1RMD5|Q86XY0	Silent	SNP	ENST00000275884.6	37	CCDS43659.1																																																																																				0.587	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1	NM_015689		C	140301430	A	C	140301430	2	2	706	1	0	0	0	0	0	0	0	1	4431	30	2	5		5	DENND2A	7	140301430	Silent	SNP	A	TCGA-KL-8337-01A-11D-2310-10	18546260	140301430	18837233	29	39355											
PCMTD1	115294	bcgsc.ca	37	8	52733191	52733191	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr8:52733191G>A	ENST00000360540.5	-	7	1200	c.794C>T	c.(793-795)gCc>gTc	p.A265V	PCMTD1_ENST00000522514.1_Missense_Mutation_p.A265V|PCMTD1_ENST00000544451.1_Missense_Mutation_p.A189V|PCMTD1_ENST00000519559.1_5'UTR	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	265						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)				AATCCCCTTGGCCTGCATCTC	0.413																																																0													100	104	103					8																	52733191		2203	4297	6500	SO:0001583	missense	115294				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.794C>T	8.37:g.52733191G>A	ENSP00000353739:p.Ala265Val		Q96FK9	Missense_Mutation	SNP	ENST00000360540.5	37	CCDS6148.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.511582	0.64522	.	.	ENSG00000168300	ENST00000360540;ENST00000544451;ENST00000522514	T;T;T	0.40476	1.03;1.03;1.03	5.77	5.77	0.91146	.	0.057264	0.64402	D	0.000002	T	0.56702	0.2003	L	0.44542	1.39	0.52501	D	0.999951	P;D;B	0.71674	0.791;0.998;0.012	B;D;B	0.65684	0.272;0.937;0.011	T	0.43410	-0.9393	10	0.26408	T	0.33	-28.5971	19.9832	0.97338	0.0:0.0:1.0:0.0	.	135;189;265	B4E2B4;F5H1M8;Q96MG8	.;.;PCMD1_HUMAN	V	265;189;265	ENSP00000353739:A265V;ENSP00000444026:A189V;ENSP00000428099:A265V	ENSP00000353739:A265V	A	-	2	0	PCMTD1	52895744	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.494000	0.60347	2.722000	0.93159	0.655000	0.94253	GCC		0.413	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2	NM_052937		A	52733191	G	A	52733191	3	1	706	1	0	0	0	0	1	0	0	0	11588	1203	42	2	283	2	PCMTD1	8	52733191	Missense_Mutation	SNP	G	TCGA-KL-8337-01A-11D-2310-10		52733191	93630831	30	39356											
PDE7A	5150	ucsc.edu	37	8	66753704	66753704	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr8:66753704T>C	ENST00000401827.3	-	1	483	c.40A>G	c.(40-42)Agg>Ggg	p.R14G	PDE7A_ENST00000396642.3_Missense_Mutation_p.R14G|CTD-2532N20.1_ENST00000607622.1_lincRNA	NM_001242318.2	NP_001229247.1	Q13946	PDE7A_HUMAN	phosphodiesterase 7A	14					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)	GGGACCGGCCTGTCCAGGGGC	0.711																																																0													13	19	17					8																	66753704		1952	4148	6100	SO:0001583	missense	5150			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.40A>G	8.37:g.66753704T>C	ENSP00000385632:p.Arg14Gly		A0AVH6|A8K436|A8K9G5|O15380|Q96T72	Missense_Mutation	SNP	ENST00000401827.3	37	CCDS56538.1	.	.	.	.	.	.	.	.	.	.	T	19.02	3.745540	0.69418	.	.	ENSG00000205268	ENST00000401827;ENST00000396642	T;T	0.79749	-1.3;-1.3	4.0	4.0	0.46444	.	.	.	.	.	D	0.83608	0.5291	L	0.50333	1.59	0.38053	D	0.935848	D;D	0.57899	0.981;0.967	D;P	0.66351	0.943;0.879	T	0.82472	-0.0440	9	0.30078	T	0.28	.	9.8698	0.41166	0.0:0.0:0.172:0.828	.	14;14	Q13946-3;Q13946	.;PDE7A_HUMAN	G	14	ENSP00000385632:R14G;ENSP00000379881:R14G	ENSP00000379881:R14G	R	-	1	2	PDE7A	66916258	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.285000	0.72658	1.442000	0.47568	0.455000	0.32223	AGG		0.711	PDE7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378905.1			C	66753704	T	C	66753704	3	2	706	1	0	0	0	0	1	0	0	0	11653	1579	55	3	1556	3	PDE7A	8	66753704	Missense_Mutation	SNP	T	TCGA-KL-8337-01A-11D-2310-10	14020513	66753704	79610318	31	39357											
TTLL11	158135	hgsc.bcm.edu;ucsc.edu	37	9	124751435	124751435	+	Silent	SNP	C	C	T			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr9:124751435C>T	ENST00000373776.3	-	4	1765	c.1578G>A	c.(1576-1578)ttG>ttA	p.L526L	TTLL11_ENST00000474723.1_Intron|TTLL11_ENST00000321582.5_Intron	NM_194252.2	NP_919228.2	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	526	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						TGAGGCCGGTCAAGGCTGGAA	0.612																																																0													68	67	67					9																	124751435		2203	4300	6503	SO:0001819	synonymous_variant	158135			AF521886	CCDS6834.2, CCDS48012.1	9q34.11	2013-02-14	2005-07-28	2005-07-28	ENSG00000175764	ENSG00000175764		"Tubulin tyrosine ligase-like family"	18113	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 20"	C9orf20		15890843	Standard	NM_001139442		Approved	bA244O19.1	uc011lyl.2	Q8NHH1	OTTHUMG00000020597	ENST00000373776.3:c.1578G>A	9.37:g.124751435C>T				Silent	SNP	ENST00000373776.3	37	CCDS6834.2																																																																																				0.612	TTLL11-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053907.1	XM_088486		T	124751435	C	T	124751435	2	4	706	1	0	0	0	0	0	0	0	1	16729	825	29	2		2	TTLL11	9	124751435	Silent	SNP	C	TCGA-KL-8337-01A-11D-2310-10		124751435	16461996	32	39358											
DDX31	64794	mdanderson.org	37	9	135545386	135545386	+	Missense_Mutation	SNP	C	C	T	rs75901862	byFrequency	TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr9:135545386C>T	ENST00000372159.3	-	1	402	c.251G>A	c.(250-252)gGg>gAg	p.G84E	DDX31_ENST00000372153.1_Missense_Mutation_p.G84E|DDX31_ENST00000480876.1_5'UTR|GTF3C4_ENST00000483873.2_5'Flank|GTF3C4_ENST00000372146.4_5'Flank|DDX31_ENST00000544003.1_5'UTR|DDX31_ENST00000310532.2_Missense_Mutation_p.G84E	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	84						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)		GCCCGGGACCCCACGTGGGAC	0.741													C|||	64	0.0127796	0.0477	0.0	5008	,	,		13282	0.0		0.001	False		,,,				2504	0.0															0								C	GLU/GLY,GLU/GLY	138,4042		3,132,1955	9	6	7		251,251	0.6	0.6	9	dbSNP_131	7	4,8142		0,4,4069	no	missense,missense	DDX31	NM_022779.7,NM_138620.1	98,98	3,136,6024	TT,TC,CC		0.0491,3.3014,1.152	possibly-damaging,possibly-damaging	84/852,84/586	135545386	142,12184	2090	4073	6163	SO:0001583	missense	64794			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.251G>A	9.37:g.135545386C>T	ENSP00000361232:p.Gly84Glu		Q5K6N2|Q5K6N3|Q5K6N4|Q5VZJ4|Q5VZJ9|Q96E91|Q96NY2|Q96SX5|Q9H5K6	Missense_Mutation	SNP	ENST00000372159.3	37	CCDS6951.1	25	0.011446886446886446	24	0.04878048780487805	0	0.0	0	0.0	1	0.0013192612137203166	C	12.05	1.820370	0.32145	0.033014	4.91E-4	ENSG00000125485	ENST00000372159;ENST00000372155;ENST00000372153;ENST00000310532	T;T;T	0.06142	4.17;3.73;3.34	1.66	0.633	0.17712	.	.	.	.	.	T	0.00580	0.0019	N	0.14661	0.345	0.58432	D	0.999999	B;P;B	0.42357	0.274;0.777;0.18	B;B;B	0.39935	0.082;0.314;0.023	T	0.57917	-0.7728	9	0.52906	T	0.07	.	5.4778	0.16706	0.0:0.6115:0.3885:0.0	.	84;84;84	Q9H8H2-2;Q9H8H2-3;Q9H8H2	.;.;DDX31_HUMAN	E	84	ENSP00000361232:G84E;ENSP00000361226:G84E;ENSP00000310539:G84E	ENSP00000310539:G84E	G	-	2	0	DDX31	134535207	0.011000	0.17503	0.639000	0.29394	0.605000	0.37080	0.287000	0.18920	0.189000	0.20188	0.462000	0.41574	GGG		0.741	DDX31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054794.1	NM_138620		T	135545386	C	T	135545386	3	4	706	1	0	0	0	0	1	0	0	0	4358	623	22	2	2391	2	DDX31	9	135545386	Missense_Mutation	SNP	C	TCGA-KL-8337-01A-11D-2310-10	10793951	135545386	5668045	33	39359											
C9orf172	389813	mdanderson.org	37	9	139739643	139739643	+	Silent	SNP	T	T	C	rs10870132	byFrequency	TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr9:139739643T>C	ENST00000436881.1	+	1	777	c.777T>C	c.(775-777)ccT>ccC	p.P259P		NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	259	Pro-rich.									endometrium(2)|large_intestine(1)|lung(6)	9						GGCCCCTGCCTGGGCCCCGGG	0.726													T|||	3952	0.789137	0.7799	0.6744	5008	,	,		8348	0.879		0.7972	False		,,,				2504	0.7822															0													5	5	5					9																	139739643		1547	3489	5036	SO:0001819	synonymous_variant	389813				CCDS48059.1	9q34.3	2012-04-03			ENSG00000232434	ENSG00000232434			37284	protein-coding gene	gene with protein product							Standard	NM_001080482		Approved		uc011meh.2	C9J069		ENST00000436881.1:c.777T>C	9.37:g.139739643T>C				Silent	SNP	ENST00000436881.1	37	CCDS48059.1																																																																																				0.726	C9orf172-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080482		C	139739643	T	C	139739643	2	2	706	1	0	0	0	0	0	0	0	1	2473	1567	55	3		3	C9orf172	9	139739643	Silent	SNP	T	TCGA-KL-8337-01A-11D-2310-10	4194257	139739643	1473788	34	39360											
SLC25A28	81894	hgsc.bcm.edu	37	10	101373519	101373519	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr10:101373519A>G	ENST00000370495.4	-	2	482	c.454T>C	c.(454-456)Tac>Cac	p.Y152H	SLC25A28_ENST00000496035.1_5'UTR	NM_031212.3	NP_112489.3	Q96A46	MFRN2_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 28	152					ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|stomach(1)	11		Colorectal(252;0.234)		Epithelial(162;2.57e-10)|all cancers(201;2.01e-08)		AACTTTTCGTAGCAGGCAAAA	0.522																																																0													63	68	66					10																	101373519		1907	4115	6022	SO:0001583	missense	81894			AF327402	CCDS41559.1	10q24.2	2013-05-22	2012-03-29		ENSG00000155287	ENSG00000155287		"Solute carriers"	23472	protein-coding gene	gene with protein product	"mitoferrin 2"	609767	"solute carrier family 25, member 28"			11297739	Standard	NM_031212		Approved	MRS3/4, MRS4L	uc001kpx.2	Q96A46	OTTHUMG00000018886	ENST00000370495.4:c.454T>C	10.37:g.101373519A>G	ENSP00000359526:p.Tyr152His		Q4VBZ0|Q5T777|Q86VX5|Q969G8|Q9H2J3	Missense_Mutation	SNP	ENST00000370495.4	37	CCDS41559.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.565618	0.86439	.	.	ENSG00000155287	ENST00000370495	D	0.84873	-1.91	5.26	5.26	0.73747	Mitochondrial carrier domain (2);	0.000000	0.64402	D	0.000001	D	0.95674	0.8593	H	0.98918	4.37	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97451	1.0028	10	0.72032	D	0.01	-20.6478	15.3365	0.74260	1.0:0.0:0.0:0.0	.	152	Q96A46	MFRN2_HUMAN	H	152	ENSP00000359526:Y152H	ENSP00000359526:Y152H	Y	-	1	0	SLC25A28	101363509	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.735000	0.91549	2.208000	0.71279	0.459000	0.35465	TAC		0.522	SLC25A28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049801.1	NM_031212		G	101373519	A	G	101373519	3	3	706	1	0	0	0	0	1	0	0	0	14497	420	15	3	652	3	SLC25A28	10	101373519	Missense_Mutation	SNP	A	TCGA-KL-8337-01A-11D-2310-10		101373519	34161228	35	39361											
CALHM2	51063	bcgsc.ca	37	10	105209398	105209398	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr10:105209398G>A	ENST00000260743.5	-	3	824	c.301C>T	c.(301-303)Ctc>Ttc	p.L101F	RP11-225H22.7_ENST00000608063.1_RNA|CALHM2_ENST00000369788.3_Missense_Mutation_p.L101F|CALHM2_ENST00000494180.1_5'UTR|CALHM2_ENST00000393235.1_Missense_Mutation_p.L101F	NM_015916.4	NP_057000.2	Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	101					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						CTTAGAAGGAGGAAGGTGGGG	0.602																																																0													76	75	76					10																	105209398		2203	4300	6503	SO:0001583	missense	51063			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.301C>T	10.37:g.105209398G>A	ENSP00000260743:p.Leu101Phe		D3DR94|O95893|Q6ZUV9	Missense_Mutation	SNP	ENST00000260743.5	37	CCDS7549.1	.	.	.	.	.	.	.	.	.	.	G	18.43	3.622214	0.66787	.	.	ENSG00000138172	ENST00000369788;ENST00000260743;ENST00000393235	T;T;T	0.18810	2.19;2.19;2.19	5.31	5.31	0.75309	.	0.147583	0.44285	D	0.000467	T	0.27697	0.0681	L	0.32530	0.975	0.44323	D	0.997208	D;D;B	0.71674	0.998;0.993;0.081	D;P;B	0.69142	0.962;0.857;0.061	T	0.04650	-1.0936	10	0.09843	T	0.71	-21.218	9.6544	0.39917	0.1548:0.0:0.8452:0.0	.	101;101;101	Q9HA72-2;Q9HA72-3;Q9HA72	.;.;CAHM2_HUMAN	F	101	ENSP00000358803:L101F;ENSP00000260743:L101F;ENSP00000376927:L101F	ENSP00000260743:L101F	L	-	1	0	CALHM2	105199388	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	2.876000	0.48498	2.474000	0.83562	0.561000	0.74099	CTC		0.602	CALHM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050159.1	NM_015916		A	105209398	G	A	105209398	3	1	706	1	0	0	0	0	1	0	0	0	2585	1000	35	2	678	2	CALHM2	10	105209398	Missense_Mutation	SNP	G	TCGA-KL-8337-01A-11D-2310-10	3835879	105209398	30325349	36	39362											
MUC2	4583	broad.mit.edu;mdanderson.org	37	11	1092631	1092631	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr11:1092631C>T	ENST00000441003.2	+	30	4477	c.4450C>T	c.(4450-4452)Ccc>Tcc	p.P1484S	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000359061.5_Missense_Mutation_p.P1485S|MUC2_ENST00000333592.6_5'Flank	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4219	Approximate repeats.				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)	aaccaccactcccaGCCCTCC	0.627																																																0													245	372	327					11																	1092631		1617	3015	4632	SO:0001583	missense	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.4450C>T	11.37:g.1092631C>T	ENSP00000415183:p.Pro1484Ser		Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	c	0.346	-0.947869	0.02304	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.13307	2.67;2.6	1.51	-3.01	0.05463	.	2582.360000	0.00783	U	0.001290	T	0.05364	0.0142	.	.	.	0.09310	N	1	B	0.17852	0.024	B	0.09377	0.004	T	0.22765	-1.0207	9	0.09590	T	0.72	.	0.5823	0.00714	0.3056:0.3209:0.141:0.2324	.	1484	E7EUV1	.	S	1484;1485	ENSP00000415183:P1484S;ENSP00000351956:P1485S	ENSP00000351956:P1485S	P	+	1	0	MUC2	1082631	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.001000	0.01465	-1.883000	0.01120	0.000000	0.15137	CCC		0.627	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		T	1092631	C	T	1092631	3	4	706	1	0	0	0	0	1	0	0	0	9977	855	30	2	4568	2	MUC2	11	1092631	Missense_Mutation	SNP	C	TCGA-KL-8337-01A-11D-2310-10		1092631	133913885	37	39363											
KRTAP5-5	439915	mdanderson.org	37	11	1651645	1651645	+	Missense_Mutation	SNP	A	A	G	rs77039648		TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr11:1651645A>G	ENST00000399676.2	+	1	613	c.575A>G	c.(574-576)tAc>tGc	p.Y192C		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	192	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				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)		TGTAAGCCCTACTGCTGCCAG	0.602																																																0													78	86	83					11																	1651645		2200	4299	6499	SO:0001583	missense	439915			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.575A>G	11.37:g.1651645A>G	ENSP00000382584:p.Tyr192Cys		A8MWN2	Missense_Mutation	SNP	ENST00000399676.2	37	CCDS41592.1	.	.	.	.	.	.	.	.	.	.	a	0.016	-1.537048	0.00942	.	.	ENSG00000185940	ENST00000399676;ENST00000422553	T	0.01323	5.01	2.94	0.953	0.19590	.	.	.	.	.	T	0.00468	0.0015	N	0.00186	-1.895	0.58432	P	4.000000000004E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.42413	-0.9453	8	0.37606	T	0.19	.	4.0328	0.09716	0.1469:0.2455:0.6076:0.0	.	192	Q701N2	KRA55_HUMAN	C	192;163	ENSP00000382584:Y192C	ENSP00000382584:Y192C	Y	+	2	0	KRTAP5-5	1608221	0.002000	0.14202	0.035000	0.18076	0.003000	0.03518	0.006000	0.13152	0.009000	0.14813	-1.591000	0.00844	TAC		0.602	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127919.1			G	1651645	A	G	1651645	3	3	706	1	0	0	0	0	1	0	0	0	8566	391	14	3	577	3	KRTAP5-5	11	1651645	Missense_Mutation	SNP	A	TCGA-KL-8337-01A-11D-2310-10	559014	1651645	133354871	38	39364											
INS-IGF2	723961	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	11	2168965	2168965	+	Silent	SNP	C	C	T			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr11:2168965C>T	ENST00000397270.1	-	4	538	c.480G>A	c.(478-480)tcG>tcA	p.S160S	INS-IGF2_ENST00000481781.1_5'UTR|IGF2-AS_ENST00000445504.2_RNA|IGF2-AS_ENST00000381361.3_RNA|IGF2_ENST00000300632.5_5'UTR|IGF2-AS_ENST00000381363.4_RNA	NM_001042376.2	NP_001035835.1	F8WCM5	INSR2_HUMAN	INS-IGF2 readthrough	160						extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	5		all_epithelial(84;0.00018)|Breast(177;0.000962)|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;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.0832)|Lung(200;0.156)		GAGCTGGCAGCGATTCAGAGC	0.647																																																0													9	11	10					11																	2168965		1802	3876	5678	SO:0001819	synonymous_variant	723961			DQ104205	CCDS41598.1	11p15.5	2011-03-23			ENSG00000129965	ENSG00000129965			33527	other	readthrough						16531418	Standard	NM_001042376		Approved		uc001lvm.3	F8WCM5	OTTHUMG00000166213	ENST00000397270.1:c.480G>A	11.37:g.2168965C>T			Q1WM24	Silent	SNP	ENST00000397270.1	37	CCDS41598.1																																																																																				0.647	INS-IGF2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000388404.1	NM_001042376.2		T	2168965	C	T	2168965	2	4	706	1	0	0	0	0	0	0	0	1	7765	755	27	1		1	INS-IGF2	11	2168965	Silent	SNP	C	TCGA-KL-8337-01A-11D-2310-10	517320	2168965	132837551	39	39365											
CCDC73	493860	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	11	32635093	32635093	+	Missense_Mutation	SNP	G	G	A	rs201737265		TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr11:32635093G>A	ENST00000335185.5	-	16	2814	c.2771C>T	c.(2770-2772)tCg>tTg	p.S924L	CCDC73_ENST00000534415.1_5'Flank	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	924										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)					GCAAGGGGTCGAACTGCTCGC	0.378													G|||	1	0.000199681	0.0	0.0	5008	,	,		16516	0.001		0.0	False		,,,				2504	0.0															0													126	116	120					11																	32635093		1837	4075	5912	SO:0001583	missense	493860			AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.2771C>T	11.37:g.32635093G>A	ENSP00000335325:p.Ser924Leu		Q6P5Q7|Q6ZMW0|Q86WE7	Missense_Mutation	SNP	ENST00000335185.5	37	CCDS41630.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	4.192	0.034318	0.08101	.	.	ENSG00000186714	ENST00000335185	.	.	.	5.18	0.492	0.16872	.	1.274690	0.05407	N	0.541652	T	0.33904	0.0879	L	0.38838	1.175	0.20074	N	0.999939	B	0.25169	0.119	B	0.17979	0.02	T	0.29119	-1.0022	9	0.36615	T	0.2	.	10.1385	0.42721	0.3216:0.0:0.6784:0.0	.	924	Q6ZRK6	CCD73_HUMAN	L	924	.	ENSP00000335325:S924L	S	-	2	0	CCDC73	32591669	0.991000	0.36638	0.009000	0.14445	0.015000	0.08874	1.933000	0.40153	0.183000	0.20059	0.544000	0.68410	TCG		0.378	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2	NM_001008391		A	32635093	G	A	32635093	3	1	706	1	0	0	0	0	1	0	0	0	2848	1059	37	1	480	1	CCDC73	11	32635093	Missense_Mutation	SNP	G	TCGA-KL-8337-01A-11D-2310-10	30466128	32635093	102371423	40	39366											
GAL3ST3	89792	ucsc.edu	37	11	65810618	65810618	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr11:65810618T>C	ENST00000312006.4	-	3	937	c.656A>G	c.(655-657)gAc>gGc	p.D219G	GAL3ST3_ENST00000527878.1_Missense_Mutation_p.D219G	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	219					monosaccharide metabolic process (GO:0005996)|oligosaccharide metabolic process (GO:0009311)|poly-N-acetyllactosamine metabolic process (GO:0030309)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|carbohydrate binding (GO:0030246)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			kidney(1)|lung(9)|ovary(2)|skin(2)	14						GGCGGCGTCGTCGCGCGGGCT	0.667																																																0													33	38	36					11																	65810618		2199	4292	6491	SO:0001583	missense	89792			AY026481	CCDS8128.1	11q13.1	2014-08-12			ENSG00000175229	ENSG00000175229		"Sulfotransferases, membrane-bound"	24144	protein-coding gene	gene with protein product		608234				11323440, 11356829	Standard	NM_033036		Approved	GAL3ST2	uc001ogw.3	Q96A11	OTTHUMG00000166667	ENST00000312006.4:c.656A>G	11.37:g.65810618T>C	ENSP00000308591:p.Asp219Gly		Q14D05	Missense_Mutation	SNP	ENST00000312006.4	37	CCDS8128.1	.	.	.	.	.	.	.	.	.	.	T	11.86	1.763983	0.31228	.	.	ENSG00000175229	ENST00000312006;ENST00000527878	T;T	0.14640	2.49;2.49	3.99	3.99	0.46301	.	0.639319	0.15481	N	0.260103	T	0.08846	0.0219	N	0.14661	0.345	0.09310	N	0.999993	B	0.14012	0.009	B	0.17722	0.019	T	0.19516	-1.0303	10	0.56958	D	0.05	-21.5566	9.4764	0.38873	0.0:0.0:0.0:1.0	.	219	Q96A11	G3ST3_HUMAN	G	219	ENSP00000308591:D219G;ENSP00000434829:D219G	ENSP00000308591:D219G	D	-	2	0	GAL3ST3	65567194	0.085000	0.21516	0.998000	0.56505	0.987000	0.75469	2.256000	0.43231	1.800000	0.52685	0.459000	0.35465	GAC		0.667	GAL3ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391052.1	NM_033036		C	65810618	T	C	65810618	3	2	706	1	0	0	0	0	1	0	0	0	6201	1667	58	3	643	3	GAL3ST3	11	65810618	Missense_Mutation	SNP	T	TCGA-KL-8337-01A-11D-2310-10	33175525	65810618	69195898	41	39367											
MAML2	84441	mdanderson.org	37	11	95825362	95825362	+	Silent	SNP	C	C	T			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr11:95825362C>T	ENST00000524717.1	-	2	3117	c.1833G>A	c.(1831-1833)caG>caA	p.Q611Q		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	611					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.Q611Q(2)	CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				gctgttgctgctgctgctgct	0.542			T	"MECT1, CRTC3"	salivary gland mucoepidermoid																																		Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	2	Substitution - coding silent(2)	endometrium(1)|kidney(1)											39	44	42					11																	95825362		2057	4042	6099	SO:0001819	synonymous_variant	84441			AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"mastermind (Drosophila)-like 2"			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.1833G>A	11.37:g.95825362C>T			A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Silent	SNP	ENST00000524717.1	37	CCDS44714.1																																																																																				0.542	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1			T	95825362	C	T	95825362	2	4	706	1	0	0	0	0	0	0	0	1	9208	796	28	2		2	MAML2	11	95825362	Silent	SNP	C	TCGA-KL-8337-01A-11D-2310-10	30014744	95825362	39181154	42	39368											
PRB2	653247	mdanderson.org	37	12	11546495	11546495	+	Missense_Mutation	SNP	A	A	C	rs567948307	byFrequency	TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr12:11546495A>C	ENST00000389362.4	-	3	552	c.517T>G	c.(517-519)Tct>Gct	p.S173A	PRB1_ENST00000546254.1_Intron|PRB2_ENST00000545829.1_5'Flank	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	173	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGAGATCGAGAACTTCGGGAC	0.607																																																0													276	256	263					12																	11546495		2200	4299	6499	SO:0001583	missense	653247			K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.517T>G	12.37:g.11546495A>C	ENSP00000374013:p.Ser173Ala		O00599|P02811|P04281	Missense_Mutation	SNP	ENST00000389362.4	37	CCDS41757.2	.	.	.	.	.	.	.	.	.	.	.	0.015	-1.550172	0.00926	.	.	ENSG00000121335	ENST00000389362	T	0.04083	3.71	1.07	-1.34	0.09143	.	0.224686	0.18466	U	0.140380	T	0.01627	0.0052	N	0.08118	0	0.09310	N	1	B	0.31893	0.345	B	0.25291	0.059	T	0.46884	-0.9159	10	0.07175	T	0.84	.	5.5822	0.17256	0.2598:0.0:0.7402:0.0	.	173	P02812	PRB2_HUMAN	A	173	ENSP00000374013:S173A	ENSP00000374013:S173A	S	-	1	0	PRB2	11437762	0.000000	0.05858	0.002000	0.10522	0.154000	0.21943	-5.737000	0.00101	-0.425000	0.07371	0.092000	0.15492	TCT		0.607	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		C	11546495	A	C	11546495	3	2	706	1	0	0	0	0	1	0	0	0	12448	246	9	5	737	5	PRB2	12	11546495	Missense_Mutation	SNP	A	TCGA-KL-8337-01A-11D-2310-10		11546495	122305400	43	39369											
KRT86	3892	mdanderson.org	37	12	52699044	52699044	+	Silent	SNP	C	C	G	rs61915660	byFrequency	TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr12:52699044C>G	ENST00000423955.2	+	7	934	c.756C>G	c.(754-756)tcC>tcG	p.S252S	KRT86_ENST00000544024.1_Silent_p.S252S|RP11-845M18.6_ENST00000552441.1_RNA|KRT86_ENST00000293525.5_Silent_p.S252S			O43790	KRT86_HUMAN	keratin 86	252	Coil 1B.|Rod.					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)		TTCTCCAGTCCCACATCTCAG	0.557																																																0													150	129	136					12																	52699044		2203	4300	6503	SO:0001819	synonymous_variant	3892			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.756C>G	12.37:g.52699044C>G			P78387	Silent	SNP	ENST00000423955.2	37	CCDS41785.1																																																																																				0.557	KRT86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404911.1	NM_002284		G	52699044	C	G	52699044	2	3	706	1	0	0	0	0	0	0	0	1	8502	610	22	4		4	KRT86	12	52699044	Silent	SNP	C	TCGA-KL-8337-01A-11D-2310-10	41152549	52699044	81152851	44	39370											
STRN3	29966	broad.mit.edu	37	14	31420078	31420078	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr14:31420078A>G	ENST00000357479.5	-	4	729	c.533T>C	c.(532-534)cTt>cCt	p.L178P	STRN3_ENST00000355683.5_Missense_Mutation_p.L178P	NM_001083893.1	NP_001077362.1	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	178	Calmodulin-binding. {ECO:0000255}.				negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|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)|response to estradiol (GO:0032355)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		CTGTCTTAAAAGCTGTCTGCC	0.348																																																0													131	130	130					14																	31420078		2203	4300	6503	SO:0001583	missense	29966				CCDS9641.1, CCDS41938.1	14q13-q21	2013-01-10			ENSG00000196792	ENSG00000196792		"WD repeat domain containing"	15720	protein-coding gene	gene with protein product	"cell cycle S/G2 nuclear autoantigen"	614766				7864889, 10681496	Standard	NM_014574		Approved	SG2NA	uc001wqu.2	Q13033	OTTHUMG00000140201	ENST00000357479.5:c.533T>C	14.37:g.31420078A>G	ENSP00000350071:p.Leu178Pro		A2RTX7|A6NHZ7|Q9NRA5	Missense_Mutation	SNP	ENST00000357479.5	37	CCDS41938.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.466525	0.84425	.	.	ENSG00000196792	ENST00000355683;ENST00000357479;ENST00000555152	D;D	0.86097	-2.07;-2.07	5.93	5.93	0.95920	Striatin, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.93354	0.7881	M	0.86864	2.845	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.91635	0.91;0.999	D	0.94299	0.7535	10	0.87932	D	0	-17.0829	16.4321	0.83853	1.0:0.0:0.0:0.0	.	178;178	Q13033-2;Q13033	.;STRN3_HUMAN	P	178;178;59	ENSP00000347909:L178P;ENSP00000350071:L178P	ENSP00000347909:L178P	L	-	2	0	STRN3	30489829	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	8.604000	0.90877	2.281000	0.76405	0.529000	0.55759	CTT		0.348	STRN3-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409713.1	NM_014574		G	31420078	A	G	31420078	3	3	706	1	0	0	0	0	1	0	0	0	15335	72	3	3	1920	3	STRN3	14	31420078	Missense_Mutation	SNP	A	TCGA-KL-8337-01A-11D-2310-10		31420078	75929462	45	39371											
AHNAK2	113146	mdanderson.org	37	14	105411784	105411784	+	Missense_Mutation	SNP	G	G	T	rs371364837		TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr14:105411784G>T	ENST00000333244.5	-	7	10123	c.10004C>A	c.(10003-10005)gCg>gAg	p.A3335E	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3335						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)			CGCCTTCGGCGCAGACACATC	0.602																																																0													150	153	152					14																	105411784		1986	4152	6138	SO:0001583	missense	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.10004C>A	14.37:g.105411784G>T	ENSP00000353114:p.Ala3335Glu		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	10.45	1.353939	0.24512	.	.	ENSG00000185567	ENST00000333244	T	0.00949	5.51	3.83	-3.74	0.04385	.	.	.	.	.	T	0.01189	0.0039	M	0.70275	2.135	0.09310	N	1	B	0.31040	0.305	B	0.36808	0.233	T	0.48364	-0.9042	9	0.02654	T	1	.	5.4244	0.16417	0.4015:0.2619:0.3366:0.0	.	3335	Q8IVF2	AHNK2_HUMAN	E	3335	ENSP00000353114:A3335E	ENSP00000353114:A3335E	A	-	2	0	AHNAK2	104482829	0.027000	0.19231	0.000000	0.03702	0.001000	0.01503	-0.307000	0.08167	-1.065000	0.03168	-1.424000	0.01105	GCG		0.602	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		T	105411784	G	T	105411784	3	4	706	1	0	0	0	0	1	0	0	0	415	1087	38	4	7387	4	AHNAK2	14	105411784	Missense_Mutation	SNP	G	TCGA-KL-8337-01A-11D-2310-10	73991706	105411784	1937756	46	39372											
SPESP1	246777	broad.mit.edu	37	15	69238206	69238206	+	Silent	SNP	A	A	G			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr15:69238206A>G	ENST00000310673.3	+	2	487	c.333A>G	c.(331-333)ggA>ggG	p.G111G	NOX5_ENST00000455873.3_Intron|NOX5_ENST00000448182.3_Intron|NOX5_ENST00000260364.5_Intron|RP11-809H16.2_ENST00000557966.1_RNA|SPESP1_ENST00000560188.1_3'UTR	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	111					acrosome reaction (GO:0007340)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organismal development (GO:0007275)	acrosomal vesicle (GO:0001669)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						CGGAAATAGGAAAGAAAAAAC	0.398																																																0													61	62	62					15																	69238206		2200	4298	6498	SO:0001819	synonymous_variant	246777			AF275321	CCDS10230.1	15q22.31	2011-04-15				ENSG00000258484			15570	protein-coding gene	gene with protein product		609399				12773409	Standard	NM_145658		Approved	SP-ESP	uc002arn.2	Q6UW49		ENST00000310673.3:c.333A>G	15.37:g.69238206A>G			Q8NG22|Q8WVH8	Silent	SNP	ENST00000310673.3	37	CCDS10230.1																																																																																				0.398	SPESP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257125.1	NM_145658		G	69238206	A	G	69238206	2	3	706	1	0	0	0	0	0	0	0	1	15045	233	9	3		3	SPESP1	15	69238206	Silent	SNP	A	TCGA-KL-8337-01A-11D-2310-10		69238206	33293186	47	39373											
PKM2	5315	broad.mit.edu;mdanderson.org;bcgsc.ca	37	15	72492092	72492092	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr15:72492092C>T	ENST00000335181.5	-	11	1598	c.1495G>A	c.(1495-1497)Gcc>Acc	p.A499T	PKM_ENST00000319622.6_Missense_Mutation_p.A499T|PKM_ENST00000568459.1_Missense_Mutation_p.A499T|PKM_ENST00000568883.1_Missense_Mutation_p.A334T|PKM_ENST00000449901.2_Missense_Mutation_p.A484T|PKM_ENST00000565184.1_Missense_Mutation_p.A499T|PKM_ENST00000389093.3_Missense_Mutation_p.A499T|PKM_ENST00000565154.1_Missense_Mutation_p.A499T|GRAMD2_ENST00000309731.7_5'Flank	NM_002654.4	NP_002645.3	P14618	KPYM_HUMAN	pyruvate kinase, muscle	499	Interaction with POU5F1.				carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|programmed cell death (GO:0012501)|small molecule metabolic process (GO:0044281)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)			endometrium(1)|lung(7)	8					Pyruvic acid(DB00119)	AAGCCTCGGGCCTTGCCTGGA	0.587											OREG0023252	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													45	41	42					15																	72492092		2199	4297	6496	SO:0001583	missense	5315			M23725	CCDS32284.1, CCDS32285.1, CCDS55972.1, CCDS73752.1	15q23	2012-10-02		2012-05-23	ENSG00000067225	ENSG00000067225	2.7.1.40		9021	protein-coding gene	gene with protein product		179050		PKM2		2040271	Standard	NM_002654		Approved	THBP1, OIP3, PK3	uc002atr.1	P14618	OTTHUMG00000172709	ENST00000335181.5:c.1495G>A	15.37:g.72492092C>T	ENSP00000334983:p.Ala499Thr	1138	A6NFK3|B2R5N8|B3KRY0|B4DFX8|B4DUU6|P14786|Q53GK4|Q96E76|Q9BWB5|Q9UCV6|Q9UPF2	Missense_Mutation	SNP	ENST00000335181.5	37	CCDS32284.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.947399	0.53186	.	.	ENSG00000067225	ENST00000319622;ENST00000335181;ENST00000434220;ENST00000327974;ENST00000389093;ENST00000449901	D;D;D;D	0.99051	-5.37;-5.37;-5.37;-5.37	5.33	5.33	0.75918	Pyruvate kinase, C-terminal (2);Pyruvate kinase, alpha/beta (1);	0.051452	0.85682	D	0.000000	D	0.97816	0.9283	M	0.61703	1.905	0.58432	D	0.999999	B;B;B;B;B;B;B;B	0.12630	0.001;0.005;0.0;0.0;0.0;0.003;0.0;0.006	B;B;B;B;B;B;B;B	0.14578	0.003;0.011;0.007;0.002;0.003;0.009;0.003;0.009	D	0.97679	1.0171	10	0.16896	T	0.51	-14.6084	19.3858	0.94555	0.0:1.0:0.0:0.0	.	425;484;479;499;499;334;426;334	B4DNK4;B4DUU6;E7EUQ8;P14618;P14618-2;Q504U3;E9PF79;E7EUJ4	.;.;.;KPYM_HUMAN;.;.;.;.	T	499;499;426;334;499;484	ENSP00000320171:A499T;ENSP00000334983:A499T;ENSP00000373745:A499T;ENSP00000403365:A484T	ENSP00000320171:A499T	A	-	1	0	PKM2	70279146	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	4.787000	0.62432	2.659000	0.90383	0.561000	0.74099	GCC		0.587	PKM-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420056.1			T	72492092	C	T	72492092	3	4	706	1	0	0	0	0	1	0	0	0	11979	739	26	2	104	2	PKM2	15	72492092	Missense_Mutation	SNP	C	TCGA-KL-8337-01A-11D-2310-10	3253886	72492092	30039300	48	39374											
SRRM2	23524	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	16	2813651	2813651	+	Missense_Mutation	SNP	C	C	A			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr16:2813651C>A	ENST00000301740.8	+	11	3671	c.3122C>A	c.(3121-3123)tCt>tAt	p.S1041Y		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1041	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						GGAGTAAAATCTAGCACACCA	0.458																																																0													94	95	95					16																	2813651		2198	4300	6498	SO:0001583	missense	23524			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.3122C>A	16.37:g.2813651C>A	ENSP00000301740:p.Ser1041Tyr		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.892469	0.33442	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	T	0.27256	1.68	5.54	5.54	0.83059	.	0.522580	0.19245	N	0.119072	T	0.25082	0.0609	L	0.34521	1.04	0.35720	D	0.817096	P	0.44090	0.826	B	0.41088	0.347	T	0.26258	-1.0108	10	0.66056	D	0.02	-0.5501	16.9676	0.86290	0.0:1.0:0.0:0.0	.	1041	Q9UQ35	SRRM2_HUMAN	Y	1041;1041;293	ENSP00000301740:S1041Y	ENSP00000301740:S1041Y	S	+	2	0	SRRM2	2753652	0.060000	0.20803	0.975000	0.42487	0.454000	0.32378	2.762000	0.47597	2.622000	0.88805	0.655000	0.94253	TCT		0.458	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			A	2813651	C	A	2813651	3	1	706	1	0	0	0	0	1	0	0	0	15174	913	32	4	3160	4	SRRM2	16	2813651	Missense_Mutation	SNP	C	TCGA-KL-8337-01A-11D-2310-10		2813651	87541102	49	39375											
CORO1A	11151	ucsc.edu	37	16	30198795	30198795	+	Silent	SNP	T	T	C			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr16:30198795T>C	ENST00000219150.5	+	6	1034	c.729T>C	c.(727-729)agT>agC	p.S243S	CORO1A_ENST00000570045.1_Silent_p.S243S|CORO1A_ENST00000565497.1_Silent_p.S243S|RP11-455F5.5_ENST00000567153.1_RNA|RP11-455F5.5_ENST00000568506.1_RNA|RP11-455F5.5_ENST00000566144.1_RNA	NM_001193333.2|NM_007074.3	NP_001180262.1|NP_009005.1	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	243					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						GCCGCATGAGTGAGCGGCAGG	0.672																																																0													26	27	26					16																	30198795		2196	4300	6496	SO:0001819	synonymous_variant	11151			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.729T>C	16.37:g.30198795T>C			B2RBL1|Q2YD73	Silent	SNP	ENST00000219150.5	37	CCDS10673.1																																																																																				0.672	CORO1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255195.2	NM_007074		C	30198795	T	C	30198795	2	2	706	1	0	0	0	0	0	0	0	1	3755	1693	59	3		3	CORO1A	16	30198795	Silent	SNP	T	TCGA-KL-8337-01A-11D-2310-10	27385144	30198795	60155958	50	39376											
CLEC18A	348174	mdanderson.org	37	16	69988292	69988292	+	Missense_Mutation	SNP	C	C	T	rs2549089	byFrequency	TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr16:69988292C>T	ENST00000288040.6	+	3	459	c.272C>T	c.(271-273)aCc>aTc	p.T91I	CLEC18A_ENST00000568461.1_Missense_Mutation_p.T91I|CLEC18A_ENST00000449317.2_Missense_Mutation_p.T91I|CLEC18A_ENST00000393701.2_Missense_Mutation_p.T91I	NM_001136214.2	NP_001129686.1	A5D8T8	CL18A_HUMAN	C-type lectin domain family 18, member A	91	SCP.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)	p.T91I(2)		NS(1)|endometrium(2)|lung(1)|skin(1)	5						CTCTGTGGAACCCCAACCCCG	0.647													.|||	21	0.00419329	0.0159	0.0	5008	,	,		17779	0.0		0.0	False		,,,				2504	0.0															2	Substitution - Missense(2)	NS(1)|skin(1)											55	53	54					16																	69988292		2198	4300	6498	SO:0001583	missense	348174			AF428259	CCDS10886.1	16q22.1	2010-04-27	2009-03-10	2009-03-10		ENSG00000157322		"C-type lectin domain containing"	30388	protein-coding gene	gene with protein product	"mannose receptor-like"					12975309	Standard	NM_001136214		Approved	MRCL	uc010vlo.3	A5D8T8		ENST00000288040.6:c.272C>T	16.37:g.69988292C>T	ENSP00000288040:p.Thr91Ile		A8K1G9|Q6DCB3|Q7Z5K9|Q96HH2	Missense_Mutation	SNP	ENST00000288040.6	37	CCDS10886.1	.	.	.	.	.	.	.	.	.	.	.	3.377	-0.127284	0.06753	.	.	ENSG00000157322	ENST00000393701;ENST00000539957;ENST00000449317;ENST00000288040	T;T;T	0.07800	3.16;3.16;3.16	1.97	0.987	0.19790	CAP domain (3);	0.641843	0.13978	N	0.349648	T	0.05227	0.0139	N	0.22421	0.69	0.09310	N	1	B;B;B	0.28470	0.027;0.213;0.078	B;B;B	0.32022	0.014;0.139;0.087	T	0.42816	-0.9429	9	.	.	.	.	4.4066	0.11413	0.0:0.7949:0.0:0.2051	rs2549089	91;91;91	B4DPF2;A5D8T8;F8W692	.;CL18A_HUMAN;.	I	91	ENSP00000377304:T91I;ENSP00000413990:T91I;ENSP00000288040:T91I	.	T	+	2	0	CLEC18A	68545793	0.037000	0.19845	0.022000	0.16811	0.346000	0.29079	0.463000	0.21972	0.390000	0.25115	0.184000	0.17185	ACC		0.647	CLEC18A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268955.2	NM_182619		T	69988292	C	T	69988292	3	4	706	1	0	0	0	0	1	0	0	0	3504	507	18	2	282	2	CLEC18A	16	69988292	Missense_Mutation	SNP	C	TCGA-KL-8337-01A-11D-2310-10	39789497	69988292	20366461	51	39377											
HPR	3250	mdanderson.org	37	16	72108254	72108254	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr16:72108254A>G	ENST00000540303.2	+	3	195	c.163A>G	c.(163-165)Aac>Gac	p.N55D	HPR_ENST00000356967.5_Missense_Mutation_p.N55D|HPR_ENST00000228226.8_Missense_Mutation_p.N92D|HPR_ENST00000561690.1_Missense_Mutation_p.N55D	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	55	Sushi.					blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|spherical high-density lipoprotein particle (GO:0034366)	hemoglobin binding (GO:0030492)|serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				CCAGTGTAAGAACTACTACAG	0.498																																																0													211	131	157					16																	72108254		1982	4150	6132	SO:0001583	missense	3250			BC160066	CCDS42193.1	16q22.2	2012-10-03			ENSG00000261701	ENSG00000261701			5156	protein-coding gene	gene with protein product		140210				2987228, 16778136	Standard	NM_020995		Approved		uc002fby.3	P00739	OTTHUMG00000173010	ENST00000540303.2:c.163A>G	16.37:g.72108254A>G	ENSP00000441828:p.Asn55Asp		Q7LE20|Q92658|Q92659|Q9ULB0	Missense_Mutation	SNP	ENST00000540303.2	37	CCDS42193.1	.	.	.	.	.	.	.	.	.	.	A	7.220	0.597158	0.13875	.	.	ENSG00000257017	ENST00000356967;ENST00000540303;ENST00000228226	T;T;T	0.46451	0.87;0.87;0.87	2.4	-4.79	0.03200	Complement control module (2);	4.420860	0.00639	N	0.000520	T	0.25269	0.0614	N	0.19112	0.55	0.09310	N	1	B	0.13594	0.008	B	0.15484	0.013	T	0.09271	-1.0682	10	0.23891	T	0.37	.	5.6919	0.17835	0.2734:0.5827:0.1439:0.0	.	55	P00739	HPTR_HUMAN	D	55;55;92	ENSP00000349451:N55D;ENSP00000441828:N55D;ENSP00000228226:N92D	ENSP00000228226:N92D	N	+	1	0	HP	70665755	0.000000	0.05858	0.000000	0.03702	0.116000	0.19942	-1.020000	0.03618	-1.454000	0.01926	0.172000	0.16884	AAC		0.498	HPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421696.1	NM_020995		G	72108254	A	G	72108254	3	3	706	1	0	0	0	0	1	0	0	0	7339	246	9	3	173	3	HPR	16	72108254	Missense_Mutation	SNP	A	TCGA-KL-8337-01A-11D-2310-10	2119962	72108254	18246499	52	39378											
ATMIN	23300	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	16	81077627	81077627	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr16:81077627G>A	ENST00000299575.4	+	4	1548	c.1524G>A	c.(1522-1524)atG>atA	p.M508I	ATMIN_ENST00000566488.1_Missense_Mutation_p.M352I|ATMIN_ENST00000564241.1_Missense_Mutation_p.M352I|ATMIN_ENST00000539819.1_3'UTR	NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	508					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						ATGTACAGATGGACCAAGCTG	0.433																																																0													74	74	74					16																	81077627		2201	4300	6501	SO:0001583	missense	23300			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.1524G>A	16.37:g.81077627G>A	ENSP00000299575:p.Met508Ile		A8K4H8|Q68DC9	Missense_Mutation	SNP	ENST00000299575.4	37	CCDS32494.1	.	.	.	.	.	.	.	.	.	.	G	10.50	1.367893	0.24771	.	.	ENSG00000166454	ENST00000299575;ENST00000539819	T	0.29917	1.55	5.91	3.89	0.44902	.	0.304822	0.42964	N	0.000621	T	0.33206	0.0855	M	0.72118	2.19	0.36086	D	0.843124	B	0.06786	0.001	B	0.06405	0.002	T	0.33701	-0.9858	10	0.54805	T	0.06	-8.3303	11.3485	0.49575	0.0657:0.0:0.8075:0.1268	.	508	O43313	ATMIN_HUMAN	I	508;279	ENSP00000299575:M508I	ENSP00000299575:M508I	M	+	3	0	ATMIN	79635128	1.000000	0.71417	0.871000	0.34182	0.464000	0.32679	2.981000	0.49329	0.779000	0.33543	0.655000	0.94253	ATG		0.433	ATMIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432140.1	NM_015251		A	81077627	G	A	81077627	3	1	706	1	0	0	0	0	1	0	0	0	1110	1348	47	2	1538	2	ATMIN	16	81077627	Missense_Mutation	SNP	G	TCGA-KL-8337-01A-11D-2310-10	8969373	81077627	9277126	53	39379											
C17orf74	201243	broad.mit.edu	37	17	7329926	7329926	+	Missense_Mutation	SNP	T	T	G			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr17:7329926T>G	ENST00000333870.3	+	3	690	c.616T>G	c.(616-618)Ttt>Gtt	p.F206V	RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_Missense_Mutation_p.V93G	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	206						integral component of membrane (GO:0016021)				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				CTGGGGCGGGTTTTATCAGAG	0.617																																																0													61	68	66					17																	7329926		1986	4144	6130	SO:0001583	missense	201243			BC044816	CCDS42255.1	17p13.1	2012-05-30			ENSG00000184560	ENSG00000184560			27315	protein-coding gene	gene with protein product						12477932	Standard	NM_175734		Approved		uc002ggw.3	Q0P670	OTTHUMG00000178190	ENST00000333870.3:c.616T>G	17.37:g.7329926T>G	ENSP00000328061:p.Phe206Val			Missense_Mutation	SNP	ENST00000333870.3	37	CCDS42255.1	.	.	.	.	.	.	.	.	.	.	T	13.98	2.400165	0.42613	.	.	ENSG00000184560	ENST00000333870	T	0.29397	1.57	4.18	-2.97	0.05530	.	0.539313	0.14997	N	0.286328	T	0.15046	0.0363	N	0.19112	0.55	0.09310	N	1	B	0.24426	0.103	B	0.25140	0.058	T	0.15263	-1.0443	10	0.59425	D	0.04	-18.58	4.2722	0.10792	0.1662:0.2783:0.0:0.5555	.	206	Q0P670	CQ074_HUMAN	V	206	ENSP00000328061:F206V	ENSP00000328061:F206V	F	+	1	0	C17orf74	7270650	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.504000	0.02275	-0.285000	0.09089	-0.415000	0.06103	TTT		0.617	C17orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440933.2	NM_175734		G	7329926	T	G	7329926	3	3	706	1	0	0	0	0	1	0	0	0	1881	1725	60	5	626	5	C17orf74	17	7329926	Missense_Mutation	SNP	T	TCGA-KL-8337-01A-11D-2310-10		7329926	73865284	54	39380											
AMAC1L3	643664	ucsc.edu	37	17	7385479	7385479	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr17:7385479A>G	ENST00000412468.2	+	2	291	c.176A>G	c.(175-177)cAt>cGt	p.H59R	POLR2A_ENST00000322644.6_5'Flank|ZBTB4_ENST00000311403.4_Intron|ZBTB4_ENST00000380599.4_5'Flank|POLR2A_ENST00000572844.1_5'Flank	NM_001102614.1	NP_001096084.1	P0C7Q6	S35G6_HUMAN	solute carrier family 35, member G6	59	EamA 1.					integral component of membrane (GO:0016021)											CCCCTTTCTCATATGGCTTAC	0.632																																																0													98	103	101					17																	7385479		2203	4300	6503	SO:0001583	missense	643664				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.176A>G	17.37:g.7385479A>G	ENSP00000396523:p.His59Arg			Missense_Mutation	SNP	ENST00000412468.2	37	CCDS45603.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.796575	0.00617	.	.	ENSG00000181222	ENST00000412468	T	0.16597	2.33	4.21	3.24	0.37175	.	.	.	.	.	T	0.04679	0.0127	N	0.00926	-1.1	0.20703	N	0.999863	B	0.02656	0.0	B	0.01281	0.0	T	0.39683	-0.9602	9	0.02654	T	1	-1.8351	9.504	0.39035	0.181:0.0:0.819:0.0	.	59	P0C7Q6	S35G6_HUMAN	R	59	ENSP00000396523:H59R	ENSP00000396523:H59R	H	+	2	0	SLC35G6	7326203	1.000000	0.71417	0.996000	0.52242	0.106000	0.19336	3.612000	0.54142	0.373000	0.24621	-0.355000	0.07637	CAT		0.632	SLC35G6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001102614		G	7385479	A	G	7385479	3	3	706	1	0	0	0	0	1	0	0	0	561	217	8	3	182	3	AMAC1L3	17	7385479	Missense_Mutation	SNP	A	TCGA-KL-8337-01A-11D-2310-10	55553	7385479	73809731	55	39381											
TP53	7157	broad.mit.edu	37	17	7577559	7577559	+	Missense_Mutation	SNP	G	G	A	rs397516437|rs28934573		TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr17:7577559G>A	ENST00000269305.4	-	7	911	c.722C>T	c.(721-723)tCc>tTc	p.S241F	TP53_ENST00000420246.2_Missense_Mutation_p.S241F|TP53_ENST00000455263.2_Missense_Mutation_p.S241F|TP53_ENST00000359597.4_Missense_Mutation_p.S241F|TP53_ENST00000413465.2_Missense_Mutation_p.S241F|TP53_ENST00000445888.2_Missense_Mutation_p.S241F|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	241	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		S -> A (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228}.|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> 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.S241C(26)|p.0?(8)|p.S241Y(8)|p.C242fs*5(6)|p.?(5)|p.S241del(5)|p.S148F(4)|p.N239_C242delNSSC(3)|p.N239_C242>S(1)|p.C238fs*21(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.S148C(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(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)	GCCCATGCAGGAACTGTTACA	0.572		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	160	Substitution - Missense(124)|Deletion - In frame(13)|Deletion - Frameshift(9)|Whole gene deletion(8)|Unknown(5)|Complex - deletion inframe(1)	urinary_tract(19)|large_intestine(18)|breast(17)|endometrium(15)|ovary(15)|lung(12)|skin(9)|biliary_tract(8)|central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(7)|upper_aerodigestive_tract(6)|stomach(6)|oesophagus(5)|bone(5)|liver(3)|pancreas(3)|eye(2)|thyroid(1)|kidney(1)	GRCh37	CM920673	TP53	M	rs28934573						139	108	118					17																	7577559		2203	4300	6503	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.722C>T	17.37:g.7577559G>A	ENSP00000269305:p.Ser241Phe		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	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.50	3.404027	0.62288	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99857	-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22	4.62	3.64	0.41730	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.120078	0.56097	D	0.000022	D	0.99871	0.9939	M	0.92784	3.345	0.53688	A	0.999973	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	0.96525	0.9388	9	0.87932	D	0	-35.4617	12.8645	0.57932	0.0:0.1651:0.8349:0.0	rs28934573	241;241;148;241;241;241	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	F	241;241;241;241;241;241;230;148;109;148	ENSP00000410739:S241F;ENSP00000352610:S241F;ENSP00000269305:S241F;ENSP00000398846:S241F;ENSP00000391127:S241F;ENSP00000391478:S241F;ENSP00000425104:S109F;ENSP00000423862:S148F	ENSP00000269305:S241F	S	-	2	0	TP53	7518284	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.346000	0.44027	1.295000	0.44724	0.462000	0.41574	TCC		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577559	G	A	7577559	3	1	706	1	0	0	0	0	1	0	0	0	16386	1174	41	2	568	2	TP53	17	7577559	Missense_Mutation	SNP	G	TCGA-KL-8337-01A-11D-2310-10	192080	7577559	73617651	56	39382											
TP53	7157	bcgsc.ca	37	17	7578370	7578370	+	Splice_Site	SNP	C	C	A			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr17:7578370C>A	ENST00000269305.4	-	5	749		c.e5+1		TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000574684.1_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.?(54)|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)	CAGCTGCTCACCATCGCTATC	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)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	68	Unknown(54)|Whole gene deletion(8)|Deletion - Frameshift(3)|Deletion - In frame(2)|Insertion - Frameshift(1)	lung(12)|breast(9)|oesophagus(7)|ovary(7)|liver(7)|urinary_tract(5)|NS(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(2)|stomach(1)|soft_tissue(1)											48	46	47					17																	7578370		2203	4300	6503	SO:0001630	splice_region_variant	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.559+1G>T	17.37:g.7578370C>A			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	11.69	1.713974	0.30413	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	4.7	3.7	0.42460	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0738	0.59075	0.0:0.8363:0.1637:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7519095	1.000000	0.71417	0.967000	0.41034	0.201000	0.24016	3.085000	0.50151	1.248000	0.43934	0.655000	0.94253	.		0.632	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	A	7578370	C	A	7578370	5	1	706	1	0	0	0	0	0	0	1	0	16386	521	18	4	738	4	TP53	17	7578370	Splice_Site	SNP	C	TCGA-KL-8337-01A-11D-2310-10	811	7578370	73616840	57	39383											
DGKE	8526	ucsc.edu	37	17	54935999	54935999	+	Missense_Mutation	SNP	A	A	T			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr17:54935999A>T	ENST00000284061.3	+	9	1437	c.1257A>T	c.(1255-1257)gaA>gaT	p.E419D		NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	419					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|phospholipid biosynthetic process (GO:0008654)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					TAGTGCAAGAATGTAAAGATT	0.269																																																0													41	44	43					17																	54935999		2199	4297	6496	SO:0001583	missense	8526			U49379	CCDS11590.1	17q22	2008-07-18	2002-08-29			ENSG00000153933	2.7.1.107		2852	protein-coding gene	gene with protein product		601440	"diacylglycerol kinase, epsilon (64kD)"			8626589, 10051413	Standard	NM_003647		Approved	DAGK6, DGK	uc002iur.3	P52429		ENST00000284061.3:c.1257A>T	17.37:g.54935999A>T	ENSP00000284061:p.Glu419Asp		Q8TBM4|Q9UKQ3	Missense_Mutation	SNP	ENST00000284061.3	37	CCDS11590.1	.	.	.	.	.	.	.	.	.	.	A	13.18	2.159400	0.38119	.	.	ENSG00000153933	ENST00000284061	T	0.42513	0.97	5.49	2.03	0.26663	Diacylglycerol kinase, accessory domain (2);	0.045848	0.85682	D	0.000000	T	0.24084	0.0583	N	0.12746	0.255	0.80722	D	1	B;B	0.27594	0.182;0.182	B;B	0.33960	0.173;0.173	T	0.04041	-1.0982	10	0.21540	T	0.41	.	9.1053	0.36694	0.7885:0.0:0.2115:0.0	.	419;419	A1L4Q0;P52429	.;DGKE_HUMAN	D	419	ENSP00000284061:E419D	ENSP00000284061:E419D	E	+	3	2	DGKE	52290998	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.237000	0.51344	0.371000	0.24564	0.477000	0.44152	GAA		0.269	DGKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440601.1	NM_003647		T	54935999	A	T	54935999	3	4	706	1	0	0	0	0	1	0	0	0	4470	98	4	5	1287	5	DGKE	17	54935999	Missense_Mutation	SNP	A	TCGA-KL-8337-01A-11D-2310-10	47357629	54935999	26259211	58	39384											
BPTF	2186	bcgsc.ca	37	17	65907097	65907097	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr17:65907097A>G	ENST00000321892.4	+	13	3536	c.3475A>G	c.(3475-3477)Agt>Ggt	p.S1159G	BPTF_ENST00000335221.5_Missense_Mutation_p.S1159G|BPTF_ENST00000306378.6_Missense_Mutation_p.S1033G|BPTF_ENST00000424123.3_Missense_Mutation_p.S1020G			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1159					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)			TTGTCAGGAGAGTTCTCAAGT	0.383																																																0													93	90	91					17																	65907097		2203	4300	6503	SO:0001583	missense	2186			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"Zinc fingers, PHD-type"	3581	protein-coding gene	gene with protein product		601819	"fetal Alzheimer antigen"	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.3475A>G	17.37:g.65907097A>G	ENSP00000315454:p.Ser1159Gly		Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37		.	.	.	.	.	.	.	.	.	.	A	5.510	0.279120	0.10458	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	T;T;T	0.62941	0.0;-0.01;-0.0	5.64	0.846	0.18955	.	.	.	.	.	T	0.44582	0.1300	L	0.27053	0.805	0.09310	N	1	B;B	0.11235	0.003;0.004	B;B	0.11329	0.006;0.004	T	0.28267	-1.0049	9	0.38643	T	0.18	0.0342	6.1773	0.20451	0.6778:0.1243:0.1979:0.0	.	1033;1159	Q12830-2;Q12830-4	.;.	G	1033;1159;1159	ENSP00000307208:S1033G;ENSP00000334351:S1159G;ENSP00000315454:S1159G	ENSP00000307208:S1033G	S	+	1	0	BPTF	63337559	0.009000	0.17119	0.008000	0.14137	0.504000	0.33889	0.642000	0.24735	-0.070000	0.12908	0.528000	0.53228	AGT		0.383	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		G	65907097	A	G	65907097	3	3	706	1	0	0	0	0	1	0	0	0	1497	304	11	3	3525	3	BPTF	17	65907097	Missense_Mutation	SNP	A	TCGA-KL-8337-01A-11D-2310-10	10971098	65907097	15288113	59	39385											
CTDP1	9150	broad.mit.edu;ucsc.edu;mdanderson.org	37	18	77513733	77513733	+	Silent	SNP	C	C	T			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr18:77513733C>T	ENST00000299543.7	+	13	2976	c.2829C>T	c.(2827-2829)agC>agT	p.S943S	CTDP1_ENST00000075430.7_3'UTR	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	943					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)		AGGGCAGCAGCTCCGAGGCCG	0.642																																																0													46	45	46					18																	77513733		2203	4300	6503	SO:0001819	synonymous_variant	9150			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.2829C>T	18.37:g.77513733C>T			A8MY97|Q7Z644|Q96BZ1|Q9Y6F5	Silent	SNP	ENST00000299543.7	37	CCDS12017.1																																																																																				0.642	CTDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256432.1	NM_004715		T	77513733	C	T	77513733	2	4	706	1	0	0	0	0	0	0	0	1	4004	796	28	2		2	CTDP1	18	77513733	Silent	SNP	C	TCGA-KL-8337-01A-11D-2310-10		77513733	563515	60	39386											
GPR108	56927	mdanderson.org	37	19	6737481	6737481	+	Missense_Mutation	SNP	T	T	C	rs340138	byFrequency	TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr19:6737481T>C	ENST00000264080.7	-	1	133	c.107A>G	c.(106-108)cAg>cGg	p.Q36R	TRIP10_ENST00000313244.9_5'Flank|TRIP10_ENST00000313285.8_5'Flank|TRIP10_ENST00000596758.1_5'Flank|GPR108_ENST00000430424.4_5'Flank|TRIP10_ENST00000600428.1_5'Flank	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	36			Q -> R (in dbSNP:rs340138). {ECO:0000269|Ref.2, ECO:0000269|Ref.4}.			integral component of membrane (GO:0016021)				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						CAGCGCCAGCTGGTGGATGCG	0.726													C|||	4440	0.886581	0.8434	0.9236	5008	,	,		10979	0.9861		0.8936	False		,,,				2504	0.8088															0								C	ARG/GLN	3027,409		1332,363,23	5	8	7		107	3.1	1	19	dbSNP_79	7	6743,857		2996,751,53	no	missense	GPR108	NM_001080452.1	43	4328,1114,76	CC,CT,TT		11.2763,11.9034,11.4715	benign	36/544	6737481	9770,1266	1718	3800	5518	SO:0001583	missense	56927				CCDS42479.1	19p13.3	2014-01-30				ENSG00000125734		"GPCR / Unclassified : 7TM orphan receptors"	17829	protein-coding gene	gene with protein product							Standard	NM_001080452		Approved	LUSTR2	uc002mfp.3	Q9NPR9	OTTHUMG00000170129	ENST00000264080.7:c.107A>G	19.37:g.6737481T>C	ENSP00000264080:p.Gln36Arg		B9EJD7	Missense_Mutation	SNP	ENST00000264080.7	37	CCDS42479.1	1973	0.9033882783882784	409	0.8313008130081301	332	0.9171270718232044	565	0.9877622377622378	667	0.8799472295514512	C	4.694	0.128956	0.08981	0.880966	0.887237	ENSG00000125734	ENST00000264080	T	0.20738	2.05	4.2	3.1	0.35709	.	0.309721	0.25663	N	0.029139	T	0.00012	0.0000	N	0.00099	-2.14	0.09310	P	0.999999999395269	B	0.02656	0.0	B	0.01281	0.0	T	0.36890	-0.9729	9	0.16896	T	0.51	-4.2341	5.3586	0.16075	0.0:0.7344:0.0:0.2656	rs340138;rs344628;rs1193120;rs1193215;rs3745557;rs3947071;rs11539589;rs59869501;rs340138	36	Q9NPR9	GP108_HUMAN	R	36	ENSP00000264080:Q36R	ENSP00000264080:Q36R	Q	-	2	0	GPR108	6688481	0.989000	0.36119	1.000000	0.80357	0.926000	0.56050	0.194000	0.17135	0.997000	0.38969	-0.215000	0.12644	CAG		0.726	GPR108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407508.2			C	6737481	T	C	6737481	3	2	706	1	0	0	0	0	1	0	0	0	6626	1580	55	3	1596	3	GPR108	19	6737481	Missense_Mutation	SNP	T	TCGA-KL-8337-01A-11D-2310-10		6737481	52391502	61	39387											
TMEM205	374882	broad.mit.edu;mdanderson.org;bcgsc.ca	37	19	11453585	11453585	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr19:11453585C>T	ENST00000354882.5	-	3	902	c.476G>A	c.(475-477)cGc>cAc	p.R159H	TMEM205_ENST00000587948.1_Missense_Mutation_p.R159H|TMEM205_ENST00000586218.1_Missense_Mutation_p.R98H|TMEM205_ENST00000588560.1_Missense_Mutation_p.R159H|TMEM205_ENST00000593256.2_Missense_Mutation_p.R159H|RAB3D_ENST00000589655.1_Intron|CCDC159_ENST00000588790.1_5'Flank|TMEM205_ENST00000586590.1_Missense_Mutation_p.R159H|TMEM205_ENST00000586956.1_Missense_Mutation_p.R159H|TMEM205_ENST00000447337.1_Missense_Mutation_p.R159H|TMEM205_ENST00000589555.1_Missense_Mutation_p.R159H			Q6UW68	TM205_HUMAN	transmembrane protein 205	159						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(1)|lung(1)	2						CCCATGGTAGCGGAAGAAATT	0.607																																																0													117	108	111					19																	11453585		2203	4300	6503	SO:0001583	missense	374882			AK127147	CCDS32909.1	19p13.2	2008-01-09				ENSG00000105518			29631	protein-coding gene	gene with protein product		613771				12975309	Standard	NM_198536		Approved	UNQ501, MBC3205	uc002mrb.2	Q6UW68		ENST00000354882.5:c.476G>A	19.37:g.11453585C>T	ENSP00000346954:p.Arg159His			Missense_Mutation	SNP	ENST00000354882.5	37	CCDS32909.1	.	.	.	.	.	.	.	.	.	.	C	9.193	1.026438	0.19512	.	.	ENSG00000105518	ENST00000354882;ENST00000447337	.	.	.	4.82	-1.58	0.08479	.	0.304262	0.31519	N	0.007512	T	0.40886	0.1135	L	0.39898	1.24	0.43368	D	0.995457	B	0.11235	0.004	B	0.06405	0.002	T	0.15867	-1.0422	9	0.19147	T	0.46	-3.7126	10.4082	0.44276	0.0:0.4892:0.0:0.5108	.	159	Q6UW68	TM205_HUMAN	H	159	.	ENSP00000346954:R159H	R	-	2	0	TMEM205	11314585	0.906000	0.30813	0.936000	0.37596	0.393000	0.30537	0.156000	0.16382	-0.129000	0.11620	0.561000	0.74099	CGC		0.607	TMEM205-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458743.1	NM_198536		T	11453585	C	T	11453585	3	4	706	1	0	0	0	0	1	0	0	0	16135	768	27	1	97	1	TMEM205	19	11453585	Missense_Mutation	SNP	C	TCGA-KL-8337-01A-11D-2310-10	4716104	11453585	47675398	62	39388											
INSL3	3640	ucsc.edu	37	19	17932190	17932190	+	Silent	SNP	T	T	C	rs1047233	byFrequency	TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr19:17932190T>C	ENST00000317306.7	-	1	142	c.126A>G	c.(124-126)ctA>ctG	p.L42L	INSL3_ENST00000379695.5_Silent_p.L42L	NM_005543.3	NP_005534.2	P51460	INSL3_HUMAN	insulin-like 3 (Leydig cell)	42					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cell-cell signaling (GO:0007267)|in utero embryonic development (GO:0001701)|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)|positive regulation of cell proliferation (GO:0008284)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|perinuclear region of cytoplasm (GO:0048471)	insulin receptor binding (GO:0005158)|protease binding (GO:0002020)|receptor binding (GO:0005102)			breast(1)|lung(1)	2						ACACGCGCACTAGCGCGCGTA	0.721													C|||	1288	0.257188	0.3941	0.3127	5008	,	,		12303	0.005		0.4076	False		,,,				2504	0.138															0								C		1224,2548		247,730,909	4	7	6		126	-1.9	1	19	dbSNP_86	6	2298,4938		486,1326,1806	no	coding-synonymous	INSL3	NM_005543.2		733,2056,2715	CC,CT,TT		31.7579,32.4496,31.9949		42/132	17932190	3522,7486	1886	3618	5504	SO:0001819	synonymous_variant	3640				CCDS12365.1, CCDS58655.1	19p13.2-p12	2013-02-26	2003-05-13			ENSG00000248099		"Endogenous ligands"	6086	protein-coding gene	gene with protein product	"prepro-INSL3"	146738	"relaxin-like factor"	RLNL		8020942	Standard	NM_001265587		Approved	RLF, MGC119818, MGC119819	uc010ebf.2	P51460		ENST00000317306.7:c.126A>G	19.37:g.17932190T>C			B4DZ72|G3XAG0|Q3KPI5|Q3KPI6|Q6YNB5|Q9UEA2|Q9UPH6	Silent	SNP	ENST00000317306.7	37	CCDS12365.1																																																																																				0.721	INSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466836.1	NM_005543		C	17932190	T	C	17932190	2	2	706	1	0	0	0	0	0	0	0	1	7769	1509	53	3		3	INSL3	19	17932190	Silent	SNP	T	TCGA-KL-8337-01A-11D-2310-10	6478605	17932190	41196793	63	39389											
ZNF98	148198	broad.mit.edu	37	19	22575373	22575373	+	Missense_Mutation	SNP	C	C	T	rs201074450		TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr19:22575373C>T	ENST00000357774.5	-	4	785	c.664G>A	c.(664-666)Gcc>Acc	p.A222T		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	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)			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)				AGGTTTGAGGCCTCATTATAG	0.383																																																0													12	13	13					19																	22575373		1871	4124	5995	SO:0001583	missense	148198				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.664G>A	19.37:g.22575373C>T	ENSP00000350418:p.Ala222Thr			Missense_Mutation	SNP	ENST00000357774.5	37	CCDS46031.1	.	.	.	.	.	.	.	.	.	.	.	4.784	0.145770	0.09134	.	.	ENSG00000197360	ENST00000357774	T	0.33654	1.4	1.28	-1.83	0.07833	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18002	0.0432	N	0.17674	0.51	0.09310	N	1	B	0.22541	0.071	B	0.25987	0.065	T	0.27262	-1.0079	9	0.39692	T	0.17	.	0.0814	0.00032	0.2369:0.2268:0.2367:0.2996	.	222	A6NK75	ZNF98_HUMAN	T	222	ENSP00000350418:A222T	ENSP00000350418:A222T	A	-	1	0	ZNF98	22367213	0.000000	0.05858	0.001000	0.08648	0.138000	0.21146	-0.793000	0.04589	-0.223000	0.09943	0.305000	0.20034	GCC		0.383	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464398.1	NM_001098626		T	22575373	C	T	22575373	3	4	706	1	0	0	0	0	1	0	0	0	18208	739	26	2	1058	2	ZNF98	19	22575373	Missense_Mutation	SNP	C	TCGA-KL-8337-01A-11D-2310-10	4643183	22575373	36553610	64	39390											
ZNF254	9534	ucsc.edu	37	19	24310753	24310753	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr19:24310753A>G	ENST00000357002.4	+	4	2066	c.1951A>G	c.(1951-1953)Act>Gct	p.T651A	ZNF254_ENST00000342944.6_Missense_Mutation_p.T566A	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	651					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)				AGATAAGATAACTCATTGGAG	0.363																																																0													78	83	81					19																	24310753		2202	4297	6499	SO:0001583	missense	9534			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.1951A>G	19.37:g.24310753A>G	ENSP00000349494:p.Thr651Ala		A4QPC0|Q86XL7	Missense_Mutation	SNP	ENST00000357002.4	37	CCDS32983.1	.	.	.	.	.	.	.	.	.	.	A	6.168	0.399173	0.11696	.	.	ENSG00000213096	ENST00000342944;ENST00000357002;ENST00000392281	T;T	0.06768	3.26;3.41	0.525	0.525	0.17072	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08537	0.0212	L	0.54965	1.715	0.19575	N	0.999965	B	0.06786	0.001	B	0.04013	0.001	T	0.30621	-0.9972	9	0.66056	D	0.02	.	5.2926	0.15735	0.9999:0.0:1.0E-4:0.0	.	651	O75437	ZN254_HUMAN	A	566;651;343	ENSP00000445527:T566A;ENSP00000349494:T651A	ENSP00000445527:T566A	T	+	1	0	ZNF254	24102593	0.000000	0.05858	0.027000	0.17364	0.015000	0.08874	0.213000	0.17521	0.446000	0.26666	0.254000	0.18369	ACT		0.363	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	NM_004876		G	24310753	A	G	24310753	3	3	706	1	0	0	0	0	1	0	0	0	17803	43	2	3	1965	3	ZNF254	19	24310753	Missense_Mutation	SNP	A	TCGA-KL-8337-01A-11D-2310-10	1735380	24310753	34818230	65	39391											
EML2	24139	broad.mit.edu	37	19	46124887	46124887	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr19:46124887G>A	ENST00000245925.3	-	10	900	c.850C>T	c.(850-852)Cgt>Tgt	p.R284C	EML2_ENST00000586902.1_5'UTR|EML2_ENST00000587152.1_Missense_Mutation_p.R485C|EML2_ENST00000589876.1_Missense_Mutation_p.R284C|EML2_ENST00000536630.1_Missense_Mutation_p.R431C	NM_012155.2	NP_036287.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	284	Tandem atypical propeller in EMLs. {ECO:0000250}.				negative regulation of microtubule polymerization (GO:0031115)|regulation of microtubule nucleation (GO:0010968)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		TGTGTGATACGGTTCCCACCT	0.662																																																0													20	21	21					19																	46124887		2202	4295	6497	SO:0001583	missense	24139			AF103939	CCDS12670.1, CCDS54280.1, CCDS59399.1	19q13.32	2013-01-10				ENSG00000125746		"WD repeat domain containing"	18035	protein-coding gene	gene with protein product	"echinoderm MT-associated protein (EMAP)-like protein 70", "microtubule-associated protein like echinoderm EMAP"					11694528, 10521658	Standard	NM_012155		Approved	EMAP2, ELP70, EMAP-2	uc010xxm.2	O95834		ENST00000245925.3:c.850C>T	19.37:g.46124887G>A	ENSP00000245925:p.Arg284Cys		B7Z3I2|B7Z3Q9|K7ERL7|Q59EN8|Q8N5A2|Q9UG50	Missense_Mutation	SNP	ENST00000245925.3	37	CCDS12670.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.083522	0.55861	.	.	ENSG00000125746	ENST00000536630;ENST00000245925;ENST00000448055;ENST00000399594	T;T;T	0.39406	1.08;1.08;5.0	3.1	3.1	0.35709	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.069226	0.56097	U	0.000031	T	0.58850	0.2151	M	0.74881	2.28	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.962;0.972;0.996;0.95	T	0.60642	-0.7223	10	0.62326	D	0.03	-16.5272	7.354	0.26709	0.0:0.0:0.739:0.261	.	284;450;431;284	B7Z918;B7Z3Q9;B7Z3I2;O95834	.;.;.;EMAL2_HUMAN	C	431;284;485;442	ENSP00000442365:R431C;ENSP00000245925:R284C;ENSP00000382503:R442C	ENSP00000245925:R284C	R	-	1	0	EML2	50816727	1.000000	0.71417	1.000000	0.80357	0.653000	0.38743	3.887000	0.56197	1.565000	0.49641	0.195000	0.17529	CGT		0.662	EML2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459608.1	NM_012155		A	46124887	G	A	46124887	3	1	706	1	0	0	0	0	1	0	0	0	5099	1116	39	1	1139	1	EML2	19	46124887	Missense_Mutation	SNP	G	TCGA-KL-8337-01A-11D-2310-10	21814134	46124887	13004096	66	39392											
NLRP11	204801	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	19	56321650	56321650	+	Missense_Mutation	SNP	T	T	G			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr19:56321650T>G	ENST00000589093.1	-	3	419	c.326A>C	c.(325-327)gAa>gCa	p.E109A	NLRP11_ENST00000592953.1_Missense_Mutation_p.E10A|NLRP11_ENST00000360133.3_Missense_Mutation_p.E109A|NLRP11_ENST00000443188.1_Missense_Mutation_p.E109A|NLRP11_ENST00000589824.2_Missense_Mutation_p.E109A			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	109							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)		AGTGTGACTTTCCCATTGCAG	0.378																																																0													41	41	41					19																	56321650		2203	4300	6503	SO:0001583	missense	204801			AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"Nucleotide-binding domain and leucine rich repeat containing"	22945	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"	609664	"NACHT, leucine rich repeat and PYD containing 11"	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.326A>C	19.37:g.56321650T>G	ENSP00000466285:p.Glu109Ala		C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	ENST00000589093.1	37	CCDS12935.1	.	.	.	.	.	.	.	.	.	.	T	5.794	0.330843	0.10956	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.74526	-0.85;-0.79	1.99	1.99	0.26369	.	.	.	.	.	T	0.55862	0.1947	N	0.08118	0	0.09310	N	1	B;B	0.28584	0.138;0.216	B;B	0.37731	0.131;0.257	T	0.50750	-0.8791	9	0.34782	T	0.22	.	5.9904	0.19458	0.0:0.0:0.0:1.0	.	109;109	P59045;P59045-2	NAL11_HUMAN;.	A	109	ENSP00000409898:E109A;ENSP00000353251:E109A	ENSP00000353251:E109A	E	-	2	0	NLRP11	61013462	0.011000	0.17503	0.028000	0.17463	0.008000	0.06430	0.622000	0.24433	1.168000	0.42723	0.533000	0.62120	GAA		0.378	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007		G	56321650	T	G	56321650	3	3	706	1	0	0	0	0	1	0	0	0	10475	1783	62	5	2807	5	NLRP11	19	56321650	Missense_Mutation	SNP	T	TCGA-KL-8337-01A-11D-2310-10	10196763	56321650	2807333	67	39393											
VSX1	30813	mdanderson.org	37	20	25062342	25062342	+	Missense_Mutation	SNP	G	G	T	rs6050307	byFrequency	TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr20:25062342G>T	ENST00000376709.4	-	1	654	c.391C>A	c.(391-393)Cgc>Agc	p.R131S	VSX1_ENST00000398332.1_Missense_Mutation_p.R131S|VSX1_ENST00000444511.2_Missense_Mutation_p.R131S|VSX1_ENST00000429762.3_Missense_Mutation_p.R131S|VSX1_ENST00000451258.1_Missense_Mutation_p.R131S|VSX1_ENST00000424574.1_Missense_Mutation_p.R131S|VSX1_ENST00000376707.3_Missense_Mutation_p.R131S	NM_014588.5	NP_055403.2	Q9NZR4	VSX1_HUMAN	visual system homeobox 1	131			R -> S (in dbSNP:rs6050307). {ECO:0000269|PubMed:15051220}.		neuron maturation (GO:0042551)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(3)|lung(2)	6						CGCTTCTGGCGGCCGAGCGCA	0.741													G|||	206	0.0411342	0.1483	0.0144	5008	,	,		11176	0.0		0.0	False		,,,				2504	0.0															0								G	SER/ARG,SER/ARG	328,3228		8,312,1458	4	4	4		391,391	-3.9	0	20	dbSNP_114	4	13,6761		0,13,3374	yes	missense,missense	VSX1	NM_014588.4,NM_199425.1	110,110	8,325,4832	TT,TG,GG		0.1919,9.2238,3.3011	benign,benign	131/366,131/240	25062342	341,9989	1778	3387	5165	SO:0001583	missense	30813			AF176797	CCDS13168.1, CCDS13169.1, CCDS58766.1, CCDS58767.1	20p11.21	2014-02-14	2007-07-12		ENSG00000100987	ENSG00000100987		"Homeoboxes / PRD class"	12723	protein-coding gene	gene with protein product		605020	"posterior polymorphous corneal dystrophy", "visual system homeobox 1 homolog, CHX10-like (zebrafish)"	PPCD		10673340	Standard	NM_001256272		Approved	PPD, PPCD1	uc002wuf.4	Q9NZR4	OTTHUMG00000032111	ENST00000376709.4:c.391C>A	20.37:g.25062342G>T	ENSP00000365899:p.Arg131Ser		B9EGJ4|D1MF28|Q0GM60|Q0GM61|Q0GM62|Q0GM63|Q0GM64|Q0GM65|Q5TF40|Q5TF41|Q9HCU3|Q9NU27	Missense_Mutation	SNP	ENST00000376709.4	37	CCDS13168.1	90	0.04120879120879121	82	0.16666666666666666	8	0.022099447513812154	0	0.0	0	0.0	G	3.761	-0.049660	0.07407	0.092238	0.001919	ENSG00000100987	ENST00000429762;ENST00000444511;ENST00000424574;ENST00000451258;ENST00000376709;ENST00000376707;ENST00000398332	D;D;D;D;D;D;T	0.91792	-2.73;-2.91;-2.72;-2.77;-2.82;-2.83;-0.0	4.14	-3.91	0.04168	.	1.617690	0.02904	N	0.135773	T	0.00412	0.0013	N	0.00926	-1.1	0.80722	P	0.0	B;B;B;B	0.09022	0.001;0.0;0.002;0.0	B;B;B;B	0.06405	0.001;0.002;0.001;0.001	T	0.56992	-0.7887	9	0.06625	T	0.88	.	0.1523	0.00094	0.3252:0.149:0.2095:0.3163	rs6050307;rs61429181	131;131;131;131	Q9NZR4-7;Q9NZR4-8;Q9NZR4-2;Q9NZR4	.;.;.;VSX1_HUMAN	S	131	ENSP00000401690:R131S;ENSP00000387720:R131S;ENSP00000399496:R131S;ENSP00000389654:R131S;ENSP00000365899:R131S;ENSP00000365897:R131S;ENSP00000381376:R131S	ENSP00000365897:R131S	R	-	1	0	VSX1	25010342	0.000000	0.05858	0.000000	0.03702	0.543000	0.35085	-0.882000	0.04174	-0.591000	0.05859	0.563000	0.77884	CGC		0.741	VSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078384.3			T	25062342	G	T	25062342	3	4	706	1	0	0	0	0	1	0	0	0	17236	1116	39	4	819	4	VSX1	20	25062342	Missense_Mutation	SNP	G	TCGA-KL-8337-01A-11D-2310-10		25062342	37963178	68	39394											
COL9A3	1299	broad.mit.edu	37	20	61450635	61450636	+	Frame_Shift_Ins	INS	-	-	G	rs146260681|rs199653123		TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr20:61450635_61450636insG	ENST00000343916.3	+	4	248_249	c.245_246insG	c.(244-249)ccgggtfs	p.PG82fs		NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	82	Triple-helical region 3 (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female gonad development (GO:0008585)|male gonad development (GO:0008584)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					CCGGGACTGCCGGGTGTGGATG	0.688																																																0																																										SO:0001589	frameshift_variant	1299			AK075240	CCDS13505.1	20q13.3	2013-01-16			ENSG00000092758	ENSG00000092758		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2219	protein-coding gene	gene with protein product	"collagen type IX proteoglycan"	120270				8586434, 1429648	Standard	NM_001853		Approved	IDD, MED, EDM3, FLJ90759, DJ885L7.4.1	uc002ydm.3	Q14050	OTTHUMG00000032938	ENST00000343916.3:c.248dupG	20.37:g.61450638_61450638dupG	ENSP00000341640:p.Pro82fs		Q13681|Q9H4G9|Q9UPE2	Frame_Shift_Ins	INS	ENST00000343916.3	37	CCDS13505.1																																																																																				0.688	COL9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080071.2	NM_001853		G	61450636	-	G	61450635	7	5	706	1	0	1	1	0	0	0	0	0	3711	652	23	0	259	0	COL9A3	20	61450635	Frame_Shift_Ins	INS	-	TCGA-KL-8337-01A-11D-2310-10	36388293	61450635	1574885	69	39395											
PRIC285	85441	mdanderson.org	37	20	62195726	62195726	+	Silent	SNP	G	G	A	rs45469491	byFrequency	TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr20:62195726G>A	ENST00000467148.1	-	8	4518	c.4449C>T	c.(4447-4449)gaC>gaT	p.D1483D	HELZ2_ENST00000427522.2_Silent_p.D914D	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	1483					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)										CGACGCAGGCGTCCACGGAGT	0.711													G|||	242	0.0483227	0.121	0.0418	5008	,	,		15557	0.002		0.0467	False		,,,				2504	0.0041															0								G	,	377,3757		16,345,1706	5	5	5		4449,2742	-7.8	0.3	20	dbSNP_127	5	202,7874		1,200,3837	no	coding-synonymous,coding-synonymous	PRIC285	NM_001037335.2,NM_033405.3	,	17,545,5543	AA,AG,GG		2.5012,9.1195,4.742	,	1483/2650,914/2081	62195726	579,11631	2067	4038	6105	SO:0001819	synonymous_variant	85441			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.4449C>T	20.37:g.62195726G>A			Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	ENST00000467148.1	37	CCDS33508.1																																																																																				0.711	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		A	62195726	G	A	62195726	2	1	706	1	0	0	0	0	0	0	0	1	12490	1136	40	1		1	PRIC285	20	62195726	Silent	SNP	G	TCGA-KL-8337-01A-11D-2310-10	745091	62195726	829794	70	39396											
PPM1F	9647	ucsc.edu	37	22	22287827	22287827	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr22:22287827T>C	ENST00000263212.5	-	5	788	c.683A>G	c.(682-684)gAg>gGg	p.E228G	PPM1F_ENST00000538191.1_Missense_Mutation_p.E124G|PPM1F_ENST00000407142.1_Missense_Mutation_p.E60G|PPM1F_ENST00000397495.4_Missense_Mutation_p.E228G	NM_014634.3	NP_055449.1	P49593	PPM1F_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1F	228					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)		GAGGGCTCCCTCAGGGTCTGT	0.642																																																0													59	54	55					22																	22287827		2203	4300	6503	SO:0001583	missense	9647			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.683A>G	22.37:g.22287827T>C	ENSP00000263212:p.Glu228Gly		A8K6G3|B7Z2C3|Q96PM2	Missense_Mutation	SNP	ENST00000263212.5	37	CCDS13796.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.882171	0.33255	.	.	ENSG00000100034	ENST00000263212;ENST00000407142;ENST00000406981;ENST00000538191;ENST00000397495;ENST00000445205	T;T;T;T;T	0.20200	2.09;2.09;2.09;2.09;2.09	4.96	2.81	0.32909	Protein phosphatase 2C-like (5);	0.279101	0.38720	N	0.001592	T	0.15305	0.0369	L	0.33753	1.03	0.09310	N	1	B;B;B	0.12630	0.006;0.003;0.0	B;B;B	0.15484	0.012;0.013;0.005	T	0.19516	-1.0303	10	0.32370	T	0.25	-21.7728	10.4831	0.44706	0.0:0.1197:0.4748:0.4056	.	124;228;228	B7Z2C3;A8MX49;P49593	.;.;PPM1F_HUMAN	G	228;60;60;124;228;60	ENSP00000263212:E228G;ENSP00000384930:E60G;ENSP00000439915:E124G;ENSP00000380632:E228G;ENSP00000392372:E60G	ENSP00000263212:E228G	E	-	2	0	PPM1F	20617827	0.006000	0.16342	0.007000	0.13788	0.000000	0.00434	1.462000	0.35266	0.246000	0.21394	-1.338000	0.01255	GAG		0.642	PPM1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320267.2	NM_014634		C	22287827	T	C	22287827	3	2	706	1	0	0	0	0	1	0	0	0	12344	1551	54	3	697	3	PPM1F	22	22287827	Missense_Mutation	SNP	T	TCGA-KL-8337-01A-11D-2310-10		22287827	29016739	71	39397											
APOBEC3D	140564	broad.mit.edu	37	22	39421307	39421307	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr22:39421307T>C	ENST00000216099.8	+	3	850	c.443T>C	c.(442-444)cTc>cCc	p.L148P	APOBEC3D_ENST00000427494.2_Intron|APOBEC3D_ENST00000381568.4_Missense_Mutation_p.L148P	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D	148					defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					TGGGTGCTCCTCAGGCTGCAT	0.582																																																0													48	52	50					22																	39421307		2203	4300	6503	SO:0001583	missense	140564			BF832090	CCDS46709.1	22q13.1	2012-10-19	2008-05-01		ENSG00000243811	ENSG00000243811		"Apolipoprotein B mRNA editing enzymes"	17354	protein-coding gene	gene with protein product		609900	"apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D (putative)", "apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3E pseudogene"	APOBEC3E		11863358	Standard	NM_152426		Approved	ARP6, APOBEC3DE	uc003awt.4	Q96AK3	OTTHUMG00000151084	ENST00000216099.8:c.443T>C	22.37:g.39421307T>C	ENSP00000216099:p.Leu148Pro		Q5JZ91|Q7Z2N2|Q7Z2N5|Q7Z2N6	Missense_Mutation	SNP	ENST00000216099.8	37	CCDS46709.1	.	.	.	.	.	.	.	.	.	.	.	14.01	2.406990	0.42715	.	.	ENSG00000243811	ENST00000381568;ENST00000216099	T;T	0.67865	-0.29;-0.29	2.44	-4.53	0.03462	APOBEC-like, C-terminal (1);Cytidine deaminase-like (1);	.	.	.	.	T	0.46073	0.1374	L	0.29908	0.895	0.09310	N	1	B;B	0.12630	0.006;0.006	B;B	0.09377	0.004;0.004	T	0.19289	-1.0310	9	0.48119	T	0.1	.	3.8466	0.08937	0.3382:0.0:0.4:0.2618	.	148;148	B2CML4;Q96AK3	.;ABC3D_HUMAN	P	148	ENSP00000370980:L148P;ENSP00000216099:L148P	ENSP00000216099:L148P	L	+	2	0	APOBEC3D	37751253	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.614000	0.24314	-1.624000	0.01556	-0.258000	0.10820	CTC		0.582	APOBEC3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321232.2	NM_152426		C	39421307	T	C	39421307	3	2	706	1	0	0	0	0	1	0	0	0	792	1551	54	3	453	3	APOBEC3D	22	39421307	Missense_Mutation	SNP	T	TCGA-KL-8337-01A-11D-2310-10	17133480	39421307	11883259	72	39398											
ARHGAP8	23779	ucsc.edu	37	22	45204237	45204237	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr22:45204237T>C	ENST00000389774.2	+	4	359	c.218T>C	c.(217-219)gTc>gCc	p.V73A	PRR5-ARHGAP8_ENST00000352766.7_Intron|ARHGAP8_ENST00000517296.3_Intron|PRR5-ARHGAP8_ENST00000361473.5_Missense_Mutation_p.V204A|ARHGAP8_ENST00000356099.6_Missense_Mutation_p.V73A|ARHGAP8_ENST00000389773.5_Missense_Mutation_p.V195A|ARHGAP8_ENST00000336963.4_Missense_Mutation_p.V73A	NM_001017526.1	NP_001017526.1	P85298	RHG08_HUMAN	Rho GTPase activating protein 8	73	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				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)		TATACCATCGTCTATTTCCAC	0.478																																																0													88	78	82					22																	45204237		2203	4300	6503	SO:0001583	missense	553158			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.218T>C	22.37:g.45204237T>C	ENSP00000374424:p.Val73Ala		A6ZJ79|A6ZJ80|O75983|O95695|Q96RW1|Q96RW2|Q9HA49|Q9HC46|Q9NSG0|Q9NVX8|Q9NXL1|Q9UH20	Missense_Mutation	SNP	ENST00000389774.2	37	CCDS33664.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.77|12.77	2.036253|2.036253	0.35893|0.35893	.|.	.|.	ENSG00000248405|ENSG00000248405;ENSG00000241484;ENSG00000241484;ENSG00000241484;ENSG00000241484;ENSG00000241484;ENSG00000241484	ENST00000515632|ENST00000361473;ENST00000389773;ENST00000389774;ENST00000396119;ENST00000336963;ENST00000356099;ENST00000412433	.|T;T;T;T;T;T;T	.|0.76186	.|-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0	4.34|4.34	3.27|3.27	0.37495|0.37495	.|Cellular retinaldehyde-binding/triple function, C-terminal (4);	.|0.222293	.|0.22584	.|U	.|0.058178	T|T	0.77705|0.77705	0.4170|0.4170	L|L	0.58669|0.58669	1.825|1.825	0.44048|0.44048	D|D	0.996789|0.996789	.|P;P;P;P;P;P;P	.|0.48503	.|0.809;0.624;0.517;0.809;0.911;0.802;0.835	.|P;B;B;P;P;P;P	.|0.53518	.|0.639;0.279;0.205;0.639;0.7;0.607;0.728	T|T	0.76838|0.76838	-0.2811|-0.2811	5|10	.|0.59425	.|D	.|0.04	.|.	10.5667|10.5667	0.45177|0.45177	0.0:0.0:0.1625:0.8375|0.0:0.0:0.1625:0.8375	.|.	.|109;73;109;73;114;195;204	.|B7ZMA4;A6ZJ79;A2RU51;P85298;Q6PCC7;F8W6F3;B1AHC3	.|.;.;.;RHG08_HUMAN;.;.;.	P|A	127|204;195;73;73;73;73;73	.|ENSP00000354732:V204A;ENSP00000374423:V195A;ENSP00000374424:V73A;ENSP00000379425:V73A;ENSP00000337287:V73A;ENSP00000348407:V73A;ENSP00000402775:V73A	.|ENSP00000337287:V73A	S|V	+|+	1|2	0|0	PRR5-ARHGAP8|PRR5-ARHGAP8;ARHGAP8	43582901|43582901	1.000000|1.000000	0.71417|0.71417	0.815000|0.815000	0.32552|0.32552	0.154000|0.154000	0.21943|0.21943	6.995000|6.995000	0.76257|0.76257	0.663000|0.663000	0.31027|0.31027	0.482000|0.482000	0.46254|0.46254	TCT|GTC		0.478	ARHGAP8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000075088.4	NM_017701		C	45204237	T	C	45204237	3	2	706	1	0	0	0	0	1	0	0	0	888	1667	58	3	228	3	ARHGAP8	22	45204237	Missense_Mutation	SNP	T	TCGA-KL-8337-01A-11D-2310-10	5782930	45204237	6100329	73	39399											
ATAD3B	83858	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	1	1425803	1425803	+	Splice_Site	SNP	C	C	T	rs371526893		TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr1:1425803C>T	ENST00000308647.7	+	14	1620	c.1504C>T	c.(1504-1506)Cgg>Tgg	p.R502W		NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	502						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)		AGAAGGAAAACGGTGAGTGTC	0.617																																																0								C	TRP/ARG	0,4406		0,0,2203	63	53	56		1504	2	1	1		56	1,8597		0,1,4298	no	missense-near-splice	ATAD3B	NM_031921.4	101	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	502/649	1425803	1,13003	2203	4299	6502	SO:0001630	splice_region_variant	83858			AL834179	CCDS30.1	1p36.33	2010-04-21		2007-02-08	ENSG00000160072	ENSG00000160072		"ATPases / AAA-type"	24007	protein-coding gene	gene with protein product		612317				10574462	Standard	XM_005244806		Approved	TOB3, KIAA1273	uc001afv.3	Q5T9A4	OTTHUMG00000000577	ENST00000308647.7:c.1505+1C>T	1.37:g.1425803C>T			A8K3H1|Q6ZRB5|Q9BUK4|Q9ULE7	Missense_Mutation	SNP	ENST00000308647.7	37	CCDS30.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	12.89|12.89	2.072670|2.072670	0.36566|0.36566	0.0|0.0	1.16E-4|1.16E-4	ENSG00000160072|ENSG00000160072	ENST00000378737|ENST00000308647	.|T	.|0.20738	.|2.05	2.03|2.03	2.03|2.03	0.26663|0.26663	.|.	0.059036|0.059036	0.64402|0.64402	D|D	0.000001|0.000001	T|T	0.28699|0.28699	0.0711|0.0711	L|L	0.46157|0.46157	1.445|1.445	0.80722|0.80722	D|D	1|1	.|D;P	.|0.69078	.|0.997;0.952	.|P;P	.|0.54924	.|0.764;0.453	T|T	0.08006|0.08006	-1.0743|-1.0743	7|10	0.66056|0.66056	D|D	0.02|0.02	.|.	11.3705|11.3705	0.49697|0.49697	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|456;502	.|Q5T9A4-3;Q5T9A4	.|.;ATD3B_HUMAN	C|W	305|502	.|ENSP00000311766:R502W	ENSP00000368011:R305C|ENSP00000311766:R502W	R|R	+|+	1|1	0|2	ATAD3B|ATAD3B	1415666|1415666	1.000000|1.000000	0.71417|0.71417	0.970000|0.970000	0.41538|0.41538	0.013000|0.013000	0.08279|0.08279	7.417000|7.417000	0.80156|0.80156	1.135000|1.135000	0.42183|0.42183	0.194000|0.194000	0.17425|0.17425	CGC|CGG		0.617	ATAD3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001369.2	NM_031921	Missense_Mutation	T	1425803	C	T	1425803	5	4	707	1	0	0	0	0	0	0	1	0	1074	550	19	1	1558	1	ATAD3B	1	1425803	Splice_Site	SNP	C	TCGA-KL-8338-01A-11D-2310-10		1425803	247824818	1	39400											
ZBTB40	9923	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	1	22839532	22839532	+	Silent	SNP	C	C	T			TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr1:22839532C>T	ENST00000375647.4	+	12	2784	c.2577C>T	c.(2575-2577)acC>acT	p.T859T	ZBTB40_ENST00000374651.4_Silent_p.T747T|ZBTB40_ENST00000404138.1_Silent_p.T859T	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	859					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		GCCTTCACACCGGGGACCGCC	0.572																																																0													85	69	74					1																	22839532		2203	4300	6503	SO:0001819	synonymous_variant	9923			AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.2577C>T	1.37:g.22839532C>T			O75066|Q5TFU5|Q8N1R1	Silent	SNP	ENST00000375647.4	37	CCDS224.1																																																																																				0.572	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1	NM_014870		T	22839532	C	T	22839532	2	4	707	1	0	0	0	0	0	0	0	1	17547	639	23	1		1	ZBTB40	1	22839532	Silent	SNP	C	TCGA-KL-8338-01A-11D-2310-10	21413729	22839532	226411089	2	39401											
LEPR	3953	bcgsc.ca	37	1	66058516	66058516	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr1:66058516C>T	ENST00000349533.6	+	6	856	c.671C>T	c.(670-672)tCa>tTa	p.S224L	LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000371060.3_Missense_Mutation_p.S224L|LEPR_ENST00000344610.8_Missense_Mutation_p.S224L|LEPR_ENST00000371058.1_Missense_Mutation_p.S224L|LEPR_ENST00000371059.3_Missense_Mutation_p.S224L|LEPR_ENST00000406510.3_Intron	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)		ATTTTCCAGTCACCTCTAATG	0.368																																																0													94	92	93					1																	66058516		2203	4300	6503	SO:0001583	missense	3953			U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.671C>T	1.37:g.66058516C>T	ENSP00000330393:p.Ser224Leu		Q6FHL5	Missense_Mutation	SNP	ENST00000349533.6	37	CCDS631.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657442	0.88154	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	T;T;T;T;T	0.66099	-0.15;-0.16;-0.14;-0.19;-0.15	5.96	5.05	0.67936	.	0.189176	0.48286	D	0.000188	T	0.75882	0.3910	M	0.83603	2.65	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	0.81391	-0.0954	10	0.87932	D	0	-8.9527	14.8905	0.70606	0.0:0.9306:0.0:0.0694	.	224;224;224	P48357;P48357-2;P48357-3	LEPR_HUMAN;.;.	L	224	ENSP00000340884:S224L;ENSP00000330393:S224L;ENSP00000360099:S224L;ENSP00000360098:S224L;ENSP00000360097:S224L	ENSP00000340884:S224L	S	+	2	0	LEPR	65831104	0.997000	0.39634	1.000000	0.80357	0.937000	0.57800	3.676000	0.54612	1.536000	0.49237	0.650000	0.86243	TCA		0.368	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		T	66058516	C	T	66058516	3	4	707	1	0	0	0	0	1	0	0	0	8730	838	29	2	685	2	LEPR	1	66058516	Missense_Mutation	SNP	C	TCGA-KL-8338-01A-11D-2310-10	43218984	66058516	183192105	3	39402											
RPAP2	79871	bcgsc.ca	37	1	92799023	92799023	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr1:92799023A>G	ENST00000610020.1	+	9	1640	c.1531A>G	c.(1531-1533)Agt>Ggt	p.S511G		NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	511					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|snRNA transcription (GO:0009301)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleolus (GO:0005730)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		TGAAAAGTTGAGTAAAGTGTA	0.333																																																0													119	117	118					1																	92799023		2203	4300	6503	SO:0001583	missense	79871			AK023212	CCDS740.1	1p22.1	2014-01-28	2007-07-26	2007-07-26	ENSG00000122484	ENSG00000122484			25791	protein-coding gene	gene with protein product		611476	"chromosome 1 open reading frame 82"	C1orf82		17643375	Standard	NM_024813		Approved	FLJ13150	uc001dot.2	Q8IXW5	OTTHUMG00000010288	ENST00000610020.1:c.1531A>G	1.37:g.92799023A>G	ENSP00000476948:p.Ser511Gly		C9JKB5|Q49AS7|Q9H8Y2	Missense_Mutation	SNP	ENST00000610020.1	37	CCDS740.1	.	.	.	.	.	.	.	.	.	.	A	14.29	2.490173	0.44249	.	.	ENSG00000122484	ENST00000370343;ENST00000394482	.	.	.	5.49	4.35	0.52113	.	0.373385	0.36268	N	0.002681	T	0.36799	0.0980	L	0.54323	1.7	0.29479	N	0.856522	B	0.28713	0.22	B	0.28139	0.086	T	0.36261	-0.9755	8	0.59425	D	0.04	-3.388	12.1141	0.53856	0.7298:0.2702:0.0:0.0	.	511	Q8IXW5	RPAP2_HUMAN	G	511	.	ENSP00000359368:S511G	S	+	1	0	RPAP2	92571611	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.397000	0.52572	0.905000	0.36596	0.397000	0.26171	AGT		0.333	RPAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028368.2	NM_024813		G	92799023	A	G	92799023	3	3	707	1	0	0	0	0	1	0	0	0	13548	304	11	3	1565	3	RPAP2	1	92799023	Missense_Mutation	SNP	A	TCGA-KL-8338-01A-11D-2310-10	26740507	92799023	156451598	4	39403											
TCHH	7062	bcgsc.ca	37	1	152084677	152084677	+	Missense_Mutation	SNP	A	A	T	rs199649490		TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr1:152084677A>T	ENST00000368804.1	-	2	1015	c.1016T>A	c.(1015-1017)cTg>cAg	p.L339Q		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	339	5 X 13 AA tandem repeats of R-R-E-Q-E-E- E-R-R-E-Q-Q-L.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ctcgcgcctcagctgctgctc	0.706																																																0													11	15	14					1																	152084677		1976	4035	6011	SO:0001583	missense	7062			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"EF-hand domain containing"	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.1016T>A	1.37:g.152084677A>T	ENSP00000357794:p.Leu339Gln		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	N	6.735	0.504431	0.12822	.	.	ENSG00000159450	ENST00000368804	T	0.06218	3.33	3.82	-4.1	0.03940	.	.	.	.	.	T	0.00666	0.0022	N	0.08118	0	0.09310	N	1	B	0.21905	0.062	B	0.14023	0.01	T	0.48031	-0.9070	9	0.13470	T	0.59	.	4.258	0.10726	0.2515:0.0:0.1873:0.5612	.	339	Q07283	TRHY_HUMAN	Q	339	ENSP00000357794:L339Q	ENSP00000357794:L339Q	L	-	2	0	TCHH	150351301	0.000000	0.05858	0.024000	0.17045	0.001000	0.01503	-1.403000	0.02497	-0.646000	0.05452	-2.794000	0.00115	CTG		0.706	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		T	152084677	A	T	152084677	3	4	707	1	0	0	0	0	1	0	0	0	15705	188	7	5	4819	5	TCHH	1	152084677	Missense_Mutation	SNP	A	TCGA-KL-8338-01A-11D-2310-10	59285654	152084677	97165944	5	39404											
PIK3C2B	5287	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	1	204415184	204415184	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr1:204415184C>T	ENST00000367187.3	-	17	3134	c.2578G>A	c.(2578-2580)Gcc>Acc	p.A860T	PIK3C2B_ENST00000424712.2_Intron	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	860	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			CAGCTGGGGGCGCTGGCGAGC	0.622											OREG0014135	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													64	66	65					1																	204415184		2203	4300	6503	SO:0001583	missense	5287			Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"phosphoinositide-3-kinase, class 2, beta polypeptide"			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.2578G>A	1.37:g.204415184C>T	ENSP00000356155:p.Ala860Thr	2144	O95666|Q5SW99	Missense_Mutation	SNP	ENST00000367187.3	37	CCDS1446.1	.	.	.	.	.	.	.	.	.	.	C	36	5.884921	0.97068	.	.	ENSG00000133056	ENST00000367187	T	0.61510	0.1	5.33	5.33	0.75918	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.74696	0.3750	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.70227	0.968	T	0.75326	-0.3357	10	0.51188	T	0.08	.	18.6702	0.91508	0.0:1.0:0.0:0.0	.	860	O00750	P3C2B_HUMAN	T	860	ENSP00000356155:A860T	ENSP00000356155:A860T	A	-	1	0	PIK3C2B	202681807	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.942000	0.63547	2.516000	0.84829	0.460000	0.39030	GCC		0.622	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		T	204415184	C	T	204415184	3	4	707	1	0	0	0	0	1	0	0	0	11912	768	27	1	2398	1	PIK3C2B	1	204415184	Missense_Mutation	SNP	C	TCGA-KL-8338-01A-11D-2310-10	52330507	204415184	44835437	6	39405											
OR13G1	441933	mdanderson.org;bcgsc.ca	37	1	247835950	247835950	+	Missense_Mutation	SNP	T	T	C	rs1151640	byFrequency	TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr1:247835950T>C	ENST00000359688.2	-	1	415	c.394A>G	c.(394-396)Att>Gtt	p.I132V	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	132			I -> V (in dbSNP:rs1151640).			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)			TGGTTCATAATAGTACTGTAA	0.468													T|||	2033	0.40595	0.1286	0.5937	5008	,	,		22510	0.6032		0.4195	False		,,,				2504	0.4305															0			GRCh37	CM053366	OR13G1	M	rs1151640	T	VAL/ILE	739,3667	305.5+/-289.0	58,623,1522	101	84	90		394	-3.4	0	1	dbSNP_87	90	3654,4946	525.3+/-380.7	772,2110,1418	yes	missense	OR13G1	NM_001005487.1	29	830,2733,2940	CC,CT,TT		42.4884,16.7726,33.7767	benign	132/308	247835950	4393,8613	2203	4300	6503	SO:0001583	missense	441933			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.394A>G	1.37:g.247835950T>C	ENSP00000352717:p.Ile132Val		B2RN80|Q5T2T2|Q6IF86	Missense_Mutation	SNP	ENST00000359688.2	37	CCDS31094.1	960	0.43956043956043955	65	0.13211382113821138	204	0.56353591160221	372	0.6503496503496503	319	0.420844327176781	T	3.452	-0.111750	0.06881	0.167726	0.424884	ENSG00000197437	ENST00000359688	T	0.00695	5.83	4.2	-3.4	0.04853	GPCR, rhodopsin-like superfamily (1);	0.680368	0.12654	N	0.450235	T	0.00012	0.0000	L	0.40543	1.245	0.80722	P	0.0	B	0.09022	0.002	B	0.11329	0.006	T	0.07404	-1.0774	9	0.17832	T	0.49	-11.8146	5.9215	0.19084	0.0:0.1648:0.4093:0.4259	rs1151640;rs52796519;rs57652947;rs1151640	132	Q8NGZ3	O13G1_HUMAN	V	132	ENSP00000352717:I132V	ENSP00000352717:I132V	I	-	1	0	OR13G1	245902573	0.000000	0.05858	0.000000	0.03702	0.101000	0.19017	-0.022000	0.12480	-0.755000	0.04709	0.460000	0.39030	ATT		0.468	OR13G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096869.1	NM_001005487		C	247835950	T	C	247835950	3	2	707	1	0	0	0	0	1	0	0	0	10944	1406	49	3	533	3	OR13G1	1	247835950	Missense_Mutation	SNP	T	TCGA-KL-8338-01A-11D-2310-10	43420766	247835950	1414671	7	39406											
GREB1	9687	ucsc.edu	37	2	11775503	11775503	+	Missense_Mutation	SNP	G	G	T			TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr2:11775503G>T	ENST00000381486.2	+	30	5618	c.5318G>T	c.(5317-5319)gGc>gTc	p.G1773V	GREB1_ENST00000396123.1_Missense_Mutation_p.G771V|GREB1_ENST00000234142.5_Missense_Mutation_p.G1773V	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1773						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)		GTGGTGGGCGGCCACAGGTCC	0.627																																					Ovarian(39;850 945 2785 23371 33093)											0													57	63	61					2																	11775503		2071	4202	6273	SO:0001583	missense	9687				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.5318G>T	2.37:g.11775503G>T	ENSP00000370896:p.Gly1773Val		A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.717454	0.89205	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000396123	T;T;T	0.28255	2.94;2.94;1.62	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.55545	0.1927	M	0.74647	2.275	0.80722	D	1	D	0.63880	0.993	D	0.64595	0.927	T	0.62469	-0.6848	10	0.87932	D	0	-30.8708	17.7214	0.88352	0.0:0.0:1.0:0.0	.	1773	Q4ZG55	GREB1_HUMAN	V	1773;1773;771	ENSP00000370896:G1773V;ENSP00000234142:G1773V;ENSP00000379429:G771V	ENSP00000234142:G1773V	G	+	2	0	GREB1	11692954	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	9.147000	0.94646	2.194000	0.70268	0.655000	0.94253	GGC		0.627	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		T	11775503	G	T	11775503	3	4	707	1	0	0	0	0	1	0	0	0	6762	1203	42	4	5540	4	GREB1	2	11775503	Missense_Mutation	SNP	G	TCGA-KL-8338-01A-11D-2310-10		11775503	231423870	8	39407											
OTOF	9381	bcgsc.ca	37	2	26698856	26698856	+	Missense_Mutation	SNP	A	A	G	rs397515596		TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr2:26698856A>G	ENST00000272371.2	-	24	3043	c.2917T>C	c.(2917-2919)Ttt>Ctt	p.F973L	OTOF_ENST00000339598.3_Missense_Mutation_p.F226L|OTOF_ENST00000338581.6_Missense_Mutation_p.F226L|OTOF_ENST00000403946.3_Missense_Mutation_p.F973L|OTOF_ENST00000402415.3_Missense_Mutation_p.F283L	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	973	C2 3. {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)					TCGGCGGCAAAGAGGCTGCGG	0.652																																					GBM(102;732 1451 20652 24062 31372)											0													43	38	39					2																	26698856		2200	4295	6495	SO:0001583	missense	9381			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.2917T>C	2.37:g.26698856A>G	ENSP00000272371:p.Phe973Leu		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	A	17.19	3.325696	0.60743	.	.	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23	5.41	5.41	0.78517	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	0.36690	0.0976	N	0.00303	-1.675	0.80722	D	1	P;B;P;B	0.48764	0.711;0.024;0.915;0.007	B;B;P;B	0.48952	0.356;0.018;0.596;0.018	T	0.56535	-0.7963	10	0.05620	T	0.96	-4.735	15.0966	0.72238	1.0:0.0:0.0:0.0	.	973;226;283;226	Q9HC10;Q9HC10-2;Q9HC10-3;Q9HC10-4	OTOF_HUMAN;.;.;.	L	226;226;283;973;973	ENSP00000345137:F226L;ENSP00000344521:F226L;ENSP00000383906:F283L;ENSP00000272371:F973L;ENSP00000385255:F973L	ENSP00000272371:F973L	F	-	1	0	OTOF	26552360	1.000000	0.71417	0.999000	0.59377	0.751000	0.42716	6.119000	0.71590	2.059000	0.61396	0.459000	0.35465	TTT		0.652	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			G	26698856	A	G	26698856	3	3	707	1	0	0	0	0	1	0	0	0	11305	72	3	3	3353	3	OTOF	2	26698856	Missense_Mutation	SNP	A	TCGA-KL-8338-01A-11D-2310-10	14923353	26698856	216500517	9	39408											
RNF103	7844	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	2	86831681	86831681	+	Missense_Mutation	SNP	T	T	A			TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr2:86831681T>A	ENST00000237455.4	-	4	2311	c.1343A>T	c.(1342-1344)aAt>aTt	p.N448I	CHMP3_ENST00000439940.2_Intron|RNF103_ENST00000477307.1_5'Flank|AC015971.2_ENST00000597638.1_RNA|AC015971.2_ENST00000424788.1_RNA|AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000439077.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	448					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)	p.N448I(1)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						GTTATTGGCATTGACTTCATC	0.418																																																1	Substitution - Missense(1)	kidney(1)											125	124	125					2																	86831681		2203	4300	6503	SO:0001583	missense	7844			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.1343A>T	2.37:g.86831681T>A	ENSP00000237455:p.Asn448Ile		A6NFV6|B2RAG4|Q53SU6|Q8IVB9	Missense_Mutation	SNP	ENST00000237455.4	37	CCDS33237.1	.	.	.	.	.	.	.	.	.	.	T	15.06	2.722675	0.48728	.	.	ENSG00000239305	ENST00000237455	T	0.46451	0.87	5.59	5.59	0.84812	.	0.044753	0.85682	D	0.000000	T	0.61476	0.2350	L	0.60455	1.87	0.54753	D	0.999988	D	0.76494	0.999	D	0.80764	0.994	T	0.64002	-0.6509	10	0.66056	D	0.02	-16.2147	15.7662	0.78128	0.0:0.0:0.0:1.0	.	448	O00237	RN103_HUMAN	I	448	ENSP00000237455:N448I	ENSP00000237455:N448I	N	-	2	0	RNF103	86685192	1.000000	0.71417	0.998000	0.56505	0.941000	0.58515	3.609000	0.54117	2.133000	0.65898	0.377000	0.23210	AAT		0.418	RNF103-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330041.2	NM_005667		A	86831681	T	A	86831681	3	1	707	1	0	0	0	0	1	0	0	0	13429	1493	52	5	718	5	RNF103	2	86831681	Missense_Mutation	SNP	T	TCGA-KL-8338-01A-11D-2310-10	60132825	86831681	156367692	10	39409											
PIKFYVE	200576	ucsc.edu;bcgsc.ca	37	2	209198216	209198216	+	Splice_Site	SNP	A	A	G			TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr2:209198216A>G	ENST00000264380.4	+	24	4299	c.4141A>G	c.(4141-4143)Agt>Ggt	p.S1381G		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1381					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						GGCGTCTTTCAGGTAAGAAAT	0.403																																																0													69	65	66					2																	209198216		2203	4300	6503	SO:0001630	splice_region_variant	200576			AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"Zinc fingers, FYVE domain containing"	23785	protein-coding gene	gene with protein product	"zinc finger, FYVE domain containing 29"	609414	"phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.4142+1A>G	2.37:g.209198216A>G			Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.398979	0.83120	.	.	ENSG00000115020	ENST00000264380;ENST00000392200;ENST00000452564	T;T	0.29655	1.56;1.73	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.47525	0.1450	L	0.50333	1.59	0.80722	D	1	D;D	0.58268	0.982;0.969	D;D	0.67548	0.952;0.914	T	0.29640	-1.0005	10	0.28530	T	0.3	-13.6451	15.2597	0.73613	1.0:0.0:0.0:0.0	.	1381;1325	Q9Y2I7;E9PDH4	FYV1_HUMAN;.	G	1381;957;1325	ENSP00000264380:S1381G;ENSP00000405736:S1325G	ENSP00000264380:S1381G	S	+	1	0	PIKFYVE	208906461	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.962000	0.93254	2.018000	0.59344	0.454000	0.30748	AGT		0.403	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040	Missense_Mutation	G	209198216	A	G	209198216	5	3	707	1	0	0	0	0	0	0	1	0	11926	202	7	3	4242	3	PIKFYVE	2	209198216	Splice_Site	SNP	A	TCGA-KL-8338-01A-11D-2310-10	122366535	209198216	34001157	11	39410											
PECR	55825	bcgsc.ca	37	2	216923679	216923679	+	Missense_Mutation	SNP	C	C	T	rs1429148	byFrequency	TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr2:216923679C>T	ENST00000265322.7	-	4	519	c.445G>A	c.(445-447)Gag>Aag	p.E149K	PECR_ENST00000497889.1_5'UTR	NM_018441.5	NP_060911.2	Q9BY49	PECR_HUMAN	peroxisomal trans-2-enoyl-CoA reductase	149			E -> K (in dbSNP:rs1429148).		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)	CCTCCATGCTCTTTCATCCAG	0.393													C|||	877	0.17512	0.2451	0.1167	5008	,	,		19157	0.1935		0.0497	False		,,,				2504	0.2321															0								C	LYS/GLU	941,3465	358.6+/-314.5	97,747,1359	111	107	108		445	-1	0.2	2	dbSNP_88	108	508,8092	145.1+/-200.9	12,484,3804	yes	missense	PECR	NM_018441.5	56	109,1231,5163	TT,TC,CC		5.907,21.3572,11.141	benign	149/304	216923679	1449,11557	2203	4300	6503	SO:0001583	missense	55825			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.445G>A	2.37:g.216923679C>T	ENSP00000265322:p.Glu149Lys		B2RE42|Q53TC4|Q6IAK9|Q9NRD4|Q9NY60|Q9P1A4	Missense_Mutation	SNP	ENST00000265322.7	37	CCDS33375.1	334	0.15293040293040294	118	0.23983739837398374	37	0.10220994475138122	141	0.2465034965034965	38	0.05013192612137203	C	8.624	0.892018	0.17613	0.213572	0.05907	ENSG00000115425	ENST00000265322	T	0.42513	0.97	5.77	-1.01	0.10169	Apoptosis regulator, Bcl-2, BH (1);NAD(P)-binding domain (1);	0.630718	0.17997	N	0.155025	T	0.00012	0.0000	N	0.02775	-0.495	0.28925	P	0.891905	B;B	0.15930	0.005;0.015	B;B	0.25614	0.027;0.062	T	0.34650	-0.9820	9	0.10377	T	0.69	.	6.3072	0.21145	0.0:0.4753:0.1195:0.4052	rs1429148;rs3732029;rs59553324;rs1429148	149;3	Q9BY49;Q9BY49-2	PECR_HUMAN;.	K	149	ENSP00000265322:E149K	ENSP00000265322:E149K	E	-	1	0	PECR	216631924	0.024000	0.19004	0.180000	0.23079	0.930000	0.56654	-0.209000	0.09358	-0.531000	0.06340	-1.106000	0.02097	GAG		0.393	PECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337277.1	NM_018441		T	216923679	C	T	216923679	3	4	707	1	0	0	0	0	1	0	0	0	11719	922	32	2	486	2	PECR	2	216923679	Missense_Mutation	SNP	C	TCGA-KL-8338-01A-11D-2310-10	7725463	216923679	26275694	12	39411											
MAGI1	9223	hgsc.bcm.edu	37	3	65425594	65425594	+	Silent	SNP	C	C	T	rs552500635	byFrequency	TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr3:65425594C>T	ENST00000497477.2	-	9	1229	c.1230G>A	c.(1228-1230)caG>caA	p.Q410Q	MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000483466.1_Silent_p.Q410Q|MAGI1_ENST00000402939.2_Silent_p.Q410Q|MAGI1_ENST00000330909.8_Silent_p.Q410Q			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	410	Poly-Gln.				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)		gctgctgttgctgctgctgtt	0.542											OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	722	0.144169	0.0893	0.1282	5008	,	,		14940	0.2024		0.0825	False		,,,				2504	0.2331															0													65	61	62					3																	65425594		2199	4283	6482	SO:0001819	synonymous_variant	9223			AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"BAI1-associated protein 1"	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.1230G>A	3.37:g.65425594C>T		1084	A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Silent	SNP	ENST00000497477.2	37		.	.	.	.	.	.	.	.	.	.	C	1.063	-0.672234	0.03403	.	.	ENSG00000151276	ENST00000460329	.	.	.	3.3	-0.172	0.13327	.	.	.	.	.	T	0.20292	0.0488	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.22556	-1.0213	4	.	.	.	0.8958	1.6281	0.02727	0.1431:0.3787:0.1264:0.3517	.	.	.	.	N	291	.	.	S	-	2	0	MAGI1	65400634	0.371000	0.25056	0.001000	0.08648	0.001000	0.01503	-1.015000	0.03637	-0.726000	0.04895	-0.813000	0.03139	AGC		0.542	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742		T	65425594	C	T	65425594	2	4	707	1	0	0	0	0	0	0	0	1	9192	796	28	2		2	MAGI1	3	65425594	Silent	SNP	C	TCGA-KL-8338-01A-11D-2310-10		65425594	132596836	13	39412											
RABL3	285282	broad.mit.edu	37	3	120417415	120417415	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr3:120417415T>C	ENST00000273375.3	-	5	418	c.389A>G	c.(388-390)tAt>tGt	p.Y130C	RABL3_ENST00000491398.1_5'UTR|RABL3_ENST00000483733.1_Missense_Mutation_p.Y130C	NM_173825.3	NP_776186.2	Q5HYI8	RABL3_HUMAN	RAB, member of RAS oncogene family-like 3	130	Small GTPase-like.				small GTPase mediated signal transduction (GO:0007264)		GTP binding (GO:0005525)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)	17				GBM - Glioblastoma multiforme(114;0.151)		TTCTTGATCATAATCCCTGTG	0.338																																																0													190	207	202					3																	120417415		2203	4296	6499	SO:0001583	missense	285282			BC020832	CCDS3001.1	3q13.33	2008-02-05			ENSG00000144840	ENSG00000144840			18072	protein-coding gene	gene with protein product						12477932	Standard	NM_173825		Approved	MGC23920	uc003edx.3	Q5HYI8	OTTHUMG00000159668	ENST00000273375.3:c.389A>G	3.37:g.120417415T>C	ENSP00000273375:p.Tyr130Cys		Q8WUD3	Missense_Mutation	SNP	ENST00000273375.3	37	CCDS3001.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.112522	0.77210	.	.	ENSG00000144840	ENST00000273375;ENST00000483733	T;T	0.71103	-0.54;-0.51	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.81592	0.4855	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82598	-0.0378	10	0.56958	D	0.05	-12.3624	15.1734	0.72894	0.0:0.0:0.0:1.0	.	130	Q5HYI8	RABL3_HUMAN	C	130	ENSP00000273375:Y130C;ENSP00000419986:Y130C	ENSP00000273375:Y130C	Y	-	2	0	RABL3	121900105	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.572000	0.82409	2.176000	0.68965	0.455000	0.32223	TAT		0.338	RABL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356776.1	NM_173825		C	120417415	T	C	120417415	3	2	707	1	0	0	0	0	1	0	0	0	12978	1406	49	3	337	3	RABL3	3	120417415	Missense_Mutation	SNP	T	TCGA-KL-8338-01A-11D-2310-10	54991821	120417415	77605015	14	39413											
DHX36	170506	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	3	154033067	154033067	+	Missense_Mutation	SNP	T	T	A	rs138481688		TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr3:154033067T>A	ENST00000496811.1	-	3	451	c.371A>T	c.(370-372)tAc>tTc	p.Y124F	DHX36_ENST00000329463.5_Missense_Mutation_p.Y124F|DHX36_ENST00000544526.1_Missense_Mutation_p.Y124F|DHX36_ENST00000308361.6_Missense_Mutation_p.Y124F	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	124					ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TTCAGTACCGTATCTGTTTTG	0.333																																																0													68	67	67					3																	154033067		2203	4297	6500	SO:0001583	missense	170506			AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953		"DEAH-boxes"	14410	protein-coding gene	gene with protein product		612767	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36"	DDX36			Standard	NM_020865		Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.371A>T	3.37:g.154033067T>A	ENSP00000417078:p.Tyr124Phe		B2RB00|Q70JU3|Q8IYE5|Q9P240	Missense_Mutation	SNP	ENST00000496811.1	37	CCDS3171.1	.	.	.	.	.	.	.	.	.	.	T	12.26	1.884336	0.33255	.	.	ENSG00000174953	ENST00000496811;ENST00000308361;ENST00000544526;ENST00000329463;ENST00000481941	T;T;T;T;T	0.09350	2.99;2.99;2.99;2.99;2.99	5.52	5.52	0.82312	.	0.389150	0.28476	N	0.015219	T	0.07413	0.0187	N	0.24115	0.695	0.35513	D	0.800764	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.08055	0.002;0.003;0.001	T	0.24621	-1.0155	10	0.10902	T	0.67	.	12.0359	0.53425	0.0:0.0:0.0:1.0	.	124;124;124	Q9H2U1-2;Q9H2U1-3;Q9H2U1	.;.;DHX36_HUMAN	F	124;124;124;124;38	ENSP00000417078:Y124F;ENSP00000309296:Y124F;ENSP00000444247:Y124F;ENSP00000330113:Y124F;ENSP00000419862:Y38F	ENSP00000309296:Y124F	Y	-	2	0	DHX36	155515761	0.623000	0.27094	1.000000	0.80357	0.454000	0.32378	1.778000	0.38614	2.100000	0.63781	0.467000	0.42956	TAC		0.333	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1	NM_020865		A	154033067	T	A	154033067	3	1	707	1	0	0	0	0	1	0	0	0	4511	1638	57	5	2747	5	DHX36	3	154033067	Missense_Mutation	SNP	T	TCGA-KL-8338-01A-11D-2310-10	33615652	154033067	43989363	15	39414											
NDUFB5	4711	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	3	179336311	179336311	+	Splice_Site	SNP	T	T	C			TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr3:179336311T>C	ENST00000259037.3	+	5	563		c.e5+2		NDUFB5_ENST00000472629.1_Splice_Site|NDUFB5_ENST00000493866.1_Splice_Site|NDUFB5_ENST00000473500.1_Splice_Site	NM_002492.3	NP_002483.1	O43674	NDUB5_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa						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)			TGAATTACGGTAGGAAAAACG	0.373																																																0													52	53	52					3																	179336311		2203	4300	6503	SO:0001630	splice_region_variant	4711			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.449+2T>C	3.37:g.179336311T>C			Q561V6	Splice_Site	SNP	ENST00000259037.3	37	CCDS3234.1	.	.	.	.	.	.	.	.	.	.	T	17.55	3.418381	0.62622	.	.	ENSG00000136521	ENST00000259037;ENST00000493866;ENST00000472629;ENST00000482604	.	.	.	5.97	5.97	0.96955	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4432	0.75204	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	NDUFB5	180819005	1.000000	0.71417	0.999000	0.59377	0.769000	0.43574	5.492000	0.66893	2.284000	0.76573	0.523000	0.50628	.		0.373	NDUFB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348937.2	NM_002492	Intron	C	179336311	T	C	179336311	5	2	707	1	0	0	0	0	0	0	1	0	10286	1652	57	3	469	3	NDUFB5	3	179336311	Splice_Site	SNP	T	TCGA-KL-8338-01A-11D-2310-10	25303244	179336311	18686119	16	39415											
ANKRD17	26057	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	4	73959889	73959889	+	Missense_Mutation	SNP	C	C	A			TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr4:73959889C>A	ENST00000358602.4	-	28	5350	c.5234G>T	c.(5233-5235)gGc>gTc	p.G1745V	ANKRD17_ENST00000509867.2_Missense_Mutation_p.G1632V|ANKRD17_ENST00000330838.6_Missense_Mutation_p.G1494V	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1745	KH. {ECO:0000255|PROSITE- ProRule:PRU00117}.				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)			GATATTACAGCCTCCTCTTCC	0.348																																																0													162	151	155					4																	73959889		2203	4300	6503	SO:0001583	missense	26057			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.5234G>T	4.37:g.73959889C>A	ENSP00000351416:p.Gly1745Val		E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.775657	0.90195	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867;ENST00000426917	D;D;D	0.94184	-3.37;-3.37;-3.37	5.52	5.52	0.82312	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.64402	D	0.000006	D	0.98375	0.9460	H	0.99058	4.415	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;1.0;1.0	D	0.99616	1.0982	10	0.87932	D	0	.	19.4499	0.94862	0.0:1.0:0.0:0.0	.	1744;1494;1745;1632	O75179-2;G5E964;O75179;E7EUV3	.;.;ANR17_HUMAN;.	V	1745;1152;1494;1632;129	ENSP00000351416:G1745V;ENSP00000332265:G1494V;ENSP00000427151:G1632V	ENSP00000332265:G1494V	G	-	2	0	ANKRD17	74178753	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.416000	0.80143	2.582000	0.87167	0.585000	0.79938	GGC		0.348	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		A	73959889	C	A	73959889	3	1	707	1	0	0	0	0	1	0	0	0	646	739	26	4	2605	4	ANKRD17	4	73959889	Missense_Mutation	SNP	C	TCGA-KL-8338-01A-11D-2310-10		73959889	117194387	17	39416											
CXCL5	6374	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	4	74863781	74863781	+	Missense_Mutation	SNP	G	G	T			TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr4:74863781G>T	ENST00000296027.4	-	3	471	c.274C>A	c.(274-276)Ctt>Att	p.L92I		NM_002994.3	NP_002985.1	P42830	CXCL5_HUMAN	chemokine (C-X-C motif) ligand 5	92					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|immune response (GO:0006955)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)			endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			TCTGGATCAAGACAAATTTCC	0.428																																																0													85	93	91					4																	74863781		2203	4300	6503	SO:0001583	missense	6374			X78686	CCDS34006.1	4q13.3	2013-02-25	2002-08-22	2002-08-23		ENSG00000163735		"Endogenous ligands"	10642	protein-coding gene	gene with protein product		600324	"small inducible cytokine subfamily B (Cys-X-Cys), member 5 (epithelial-derived neutrophil-activating peptide 78)"	SCYB5		7929219	Standard	NM_002994		Approved	ENA-78	uc003hhk.4	P42830		ENST00000296027.4:c.274C>A	4.37:g.74863781G>T	ENSP00000296027:p.Leu92Ile		Q96QE1	Missense_Mutation	SNP	ENST00000296027.4	37	CCDS34006.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.887192	0.33348	.	.	ENSG00000163735	ENST00000296027	T	0.06068	3.35	3.78	2.9	0.33743	CXC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.085998	0.48767	N	0.000175	T	0.26557	0.0649	M	0.90145	3.09	0.29520	N	0.853537	D	0.89917	1.0	D	0.87578	0.998	T	0.10154	-1.0642	10	0.62326	D	0.03	.	8.2023	0.31432	0.0:0.0:0.7615:0.2385	.	92	P42830	CXCL5_HUMAN	I	92	ENSP00000296027:L92I	ENSP00000296027:L92I	L	-	1	0	CXCL5	75082645	0.992000	0.36948	0.539000	0.28077	0.233000	0.25261	2.704000	0.47118	0.759000	0.33084	0.306000	0.20318	CTT		0.428	CXCL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362749.1	NM_002994		T	74863781	G	T	74863781	3	4	707	1	0	0	0	0	1	0	0	0	4089	942	33	4	78	4	CXCL5	4	74863781	Missense_Mutation	SNP	G	TCGA-KL-8338-01A-11D-2310-10	903892	74863781	116290495	18	39417											
MIER3	166968	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	5	56229122	56229122	+	Missense_Mutation	SNP	T	T	G			TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr5:56229122T>G	ENST00000381199.3	-	8	709	c.699A>C	c.(697-699)aaA>aaC	p.K233N	MIER3_ENST00000409421.1_Missense_Mutation_p.K170N|MIER3_ENST00000381213.3_Missense_Mutation_p.K233N|MIER3_ENST00000381226.3_Missense_Mutation_p.K238N			Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family member 3	233	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)		TATCCATTATTTTTTCACTGC	0.398																																																0													237	228	231					5																	56229122		2203	4300	6503	SO:0001583	missense	166968			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.699A>C	5.37:g.56229122T>G	ENSP00000370596:p.Lys233Asn		B4DRI9|B8ZZQ0|Q5CZI0|Q68CS3|Q6MZS7|Q86YG8|Q8NA13	Missense_Mutation	SNP	ENST00000381199.3	37		.	.	.	.	.	.	.	.	.	.	T	15.30	2.791476	0.50102	.	.	ENSG00000155545	ENST00000381226;ENST00000381213;ENST00000381199;ENST00000409421	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	5.5	0.519	0.17035	ELM2 domain (1);	0.046629	0.85682	D	0.000000	T	0.51550	0.1681	L	0.41710	1.295	0.38505	D	0.948324	D;D;P	0.76494	0.994;0.999;0.928	P;D;P	0.69479	0.81;0.964;0.775	T	0.47222	-0.9134	10	0.35671	T	0.21	-4.2485	9.0203	0.36195	0.0:0.2834:0.0:0.7166	.	233;238;233	Q7Z3K6;Q7Z3K6-2;Q7Z3K6-3	MIER3_HUMAN;.;.	N	238;233;233;170	ENSP00000370624:K238N;ENSP00000370611:K233N;ENSP00000370596:K233N;ENSP00000386584:K170N	ENSP00000370596:K233N	K	-	3	2	MIER3	56264879	0.096000	0.21769	0.251000	0.24312	0.991000	0.79684	0.502000	0.22594	0.078000	0.16900	-0.256000	0.11100	AAA		0.398	MIER3-004	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000132523.2	NM_152622		G	56229122	T	G	56229122	3	3	707	1	0	0	0	0	1	0	0	0	9584	1838	64	5	974	5	MIER3	5	56229122	Missense_Mutation	SNP	T	TCGA-KL-8338-01A-11D-2310-10		56229122	124686138	19	39418											
VCAN	1462	broad.mit.edu;ucsc.edu;mdanderson.org	37	5	82841438	82841438	+	Silent	SNP	G	G	T			TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr5:82841438G>T	ENST00000265077.3	+	9	9913	c.9348G>T	c.(9346-9348)gtG>gtT	p.V3116V	VCAN_ENST00000343200.5_Silent_p.V2129V|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Silent_p.V1314V|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000502527.2_Silent_p.V375V|VCAN_ENST00000342785.4_Silent_p.V1362V|VCAN-AS1_ENST00000512090.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3116	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)	GCACCTGTGTGCCAGGATACA	0.463																																																0													185	175	178					5																	82841438		2203	4300	6503	SO:0001819	synonymous_variant	1462			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.9348G>T	5.37:g.82841438G>T			P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Silent	SNP	ENST00000265077.3	37	CCDS4060.1																																																																																				0.463	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		T	82841438	G	T	82841438	2	4	707	1	0	0	0	0	0	0	0	1	17143	1306	46	4		4	VCAN	5	82841438	Silent	SNP	G	TCGA-KL-8338-01A-11D-2310-10	26612316	82841438	98073822	20	39419											
OR2B2	81697	hgsc.bcm.edu	37	6	27879249	27879249	+	Silent	SNP	G	G	A	rs375078072		TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr6:27879249G>A	ENST00000303324.2	-	1	925	c.849C>T	c.(847-849)ccC>ccT	p.P283P		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	283						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(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						GATTCAGCATGGGTGCAATGA	0.403																																																0								G		0,4406		0,0,2203	76	75	75		849	3.4	1	6		75	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	OR2B2	NM_033057.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		283/358	27879249	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	81697			Z98744	CCDS4641.1	6p22.3-p21.3	2014-02-19	2002-02-28		ENSG00000168131	ENSG00000168131		"GPCR / Class A : Olfactory receptors"	13966	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily B, member 9"	OR2B9			Standard	NM_033057		Approved	hs6M1-10, OR6-1, OR2B2Q	uc011dkw.2	Q9GZK3	OTTHUMG00000014495	ENST00000303324.2:c.849C>T	6.37:g.27879249G>A			B2RNH2|Q9GZL2|Q9Y299	Silent	SNP	ENST00000303324.2	37	CCDS4641.1																																																																																				0.403	OR2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040163.1			A	27879249	G	A	27879249	2	1	707	1	0	0	0	0	0	0	0	1	10991	1335	47	2		2	OR2B2	6	27879249	Silent	SNP	G	TCGA-KL-8338-01A-11D-2310-10		27879249	143235818	21	39420											
HLA-B	3106	mdanderson.org	37	6	31324046	31324046	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr6:31324046C>T	ENST00000412585.2	-	3	545	c.517G>A	c.(517-519)Gcg>Acg	p.A173T		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	173	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						TCACGGGCCGCCTCCCACTTG	0.677									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																																							0													29	20	23					6																	31324046		2157	4214	6371	SO:0001583	missense	3106	Familial Cancer Database	;Lichen Sclerosis, Familial	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4932	protein-coding gene	gene with protein product		142830	"ankylosing spondylitis"	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.517G>A	6.37:g.31324046C>T	ENSP00000399168:p.Ala173Thr		Q29764	Missense_Mutation	SNP	ENST00000412585.2	37	CCDS34394.1	.	.	.	.	.	.	.	.	.	.	N	12.69	2.013055	0.35511	.	.	ENSG00000234745	ENST00000412585;ENST00000428231;ENST00000452596;ENST00000434333	T;T	0.00010	9.41;9.41	3.18	1.27	0.21489	MHC class I, alpha chain, alpha1/alpha2 (2);MHC classes I/II-like antigen recognition protein (2);MHC class I-like antigen recognition (2);	0.413983	0.16697	U	0.203317	T	0.00144	0.0004	M	0.87758	2.905	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.994;0.998	T	0.15983	-1.0418	10	0.56958	D	0.05	.	5.8476	0.18675	0.0:0.6711:0.2073:0.1215	.	173;173	P30480;P01889	1B42_HUMAN;1B07_HUMAN	T	173;52;52;184	ENSP00000399168:A173T;ENSP00000405931:A184T	ENSP00000399168:A173T	A	-	1	0	HLA-B	31432025	0.000000	0.05858	0.017000	0.16124	0.005000	0.04900	-0.597000	0.05713	0.174000	0.19809	0.297000	0.19635	GCG		0.677	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514		T	31324046	C	T	31324046	3	4	707	1	0	0	0	0	1	0	0	0	7198	739	26	2	591	2	HLA-B	6	31324046	Missense_Mutation	SNP	C	TCGA-KL-8338-01A-11D-2310-10	3444797	31324046	139791021	22	39421											
HLA-DRB5	3127	mdanderson.org	37	6	32497975	32497975	+	Silent	SNP	A	A	G	rs114195860	byFrequency	TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr6:32497975A>G	ENST00000374975.3	-	1	89	c.27T>C	c.(25-27)ggT>ggC	p.G9G		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						CCATGTAGGAACCTCCAGGGA	0.582																																																0													58	65	63					6																	32497975		2198	4282	6480	SO:0001819	synonymous_variant	3127				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.27T>C	6.37:g.32497975A>G				Silent	SNP	ENST00000374975.3	37	CCDS4751.1																																																																																				0.582	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076022.2	NM_002125		G	32497975	A	G	32497975	2	3	707	1	0	0	0	0	0	0	0	1	7211	30	2	3		3	HLA-DRB5	6	32497975	Silent	SNP	A	TCGA-KL-8338-01A-11D-2310-10	1173929	32497975	138617092	23	39422											
CNPY3	10695	bcgsc.ca	37	6	42906384	42906384	+	Missense_Mutation	SNP	G	G	T	rs9471969	byFrequency	TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr6:42906384G>T	ENST00000372836.4	+	6	1063	c.692G>T	c.(691-693)aGc>aTc	p.S231I	RP3-475N16.1_ENST00000450671.1_RNA|CNPY3_ENST00000394142.3_3'UTR	NM_006586.3	NP_006577.2	Q9BT09	CNPY3_HUMAN	canopy FGF signaling regulator 3	231	Saposin B-type.		S -> I (in dbSNP:rs9471969).		innate immune response (GO:0045087)|toll-like receptor signaling pathway (GO:0002224)	endoplasmic reticulum lumen (GO:0005788)				central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)	6	Colorectal(47;0.196)		all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			AAGAAGAGCAGCAGGGCCAAG	0.622													G|||	1071	0.213858	0.3328	0.2075	5008	,	,		19202	0.0149		0.2744	False		,,,				2504	0.2004															0								G	ILE/SER	1419,2987	449.8+/-349.2	230,959,1014	79	80	80		692	5	0.6	6	dbSNP_119	80	2199,6399	362.9+/-332.9	263,1673,2363	yes	missense	CNPY3	NM_006586.3	142	493,2632,3377	TT,TG,GG		25.5757,32.2061,27.8222	benign	231/279	42906384	3618,9386	2203	4299	6502	SO:0001583	missense	10695			U80744	CCDS4875.1	6p21.1	2013-09-19	2013-07-23	2007-10-22	ENSG00000137161	ENSG00000137161		"Trinucleotide (CAG) repeat containing"	11968	protein-coding gene	gene with protein product		610774	"trinucleotide repeat containing 5", "canopy 3 homolog (zebrafish)"	TNRC5		9225980	Standard	NM_006586		Approved	CAG4A	uc003ota.4	Q9BT09	OTTHUMG00000014708	ENST00000372836.4:c.692G>T	6.37:g.42906384G>T	ENSP00000361926:p.Ser231Ile		O15412|Q0P6I2|Q8NF54|Q8WTU8|Q9P0F2	Missense_Mutation	SNP	ENST00000372836.4	37	CCDS4875.1	463	0.211996336996337	158	0.32113821138211385	81	0.22375690607734808	13	0.022727272727272728	211	0.2783641160949868	G	16.53	3.149626	0.57151	0.322061	0.255757	ENSG00000137161	ENST00000372836	T	0.24723	1.84	5.02	5.02	0.67125	.	0.433550	0.25747	N	0.028570	T	0.06690	0.0171	N	0.08118	0	0.09310	P	1.0	B	0.32693	0.38	B	0.28011	0.085	T	0.15607	-1.0431	9	0.39692	T	0.17	-13.8584	15.6126	0.76737	0.0:0.0:1.0:0.0	rs9471969;rs52835372;rs58234738;rs9471969	231	Q9BT09	CNPY3_HUMAN	I	231	ENSP00000361926:S231I	ENSP00000361926:S231I	S	+	2	0	CNPY3	43014362	1.000000	0.71417	0.631000	0.29282	0.974000	0.67602	4.641000	0.61375	2.504000	0.84457	0.462000	0.41574	AGC		0.622	CNPY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040564.1	NM_006586		T	42906384	G	T	42906384	3	4	707	1	0	0	0	0	1	0	0	0	3631	971	34	4	714	4	CNPY3	6	42906384	Missense_Mutation	SNP	G	TCGA-KL-8338-01A-11D-2310-10	10408409	42906384	128208683	24	39423											
GPR146	115330	ucsc.edu	37	7	1097895	1097895	+	Silent	SNP	A	A	G	rs61910751	byFrequency	TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr7:1097895A>G	ENST00000397095.1	+	2	967	c.744A>G	c.(742-744)ccA>ccG	p.P248P	C7orf50_ENST00000488073.1_Intron|C7orf50_ENST00000397098.3_Intron|RP11-449P15.1_ENST00000549241.1_RNA|C7orf50_ENST00000397100.2_Intron|GPR146_ENST00000297468.3_Silent_p.P248P|C7orf50_ENST00000357429.6_Intron			Q96CH1	GP146_HUMAN	G protein-coupled receptor 146	248						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|ovary(1)|skin(1)	8		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		TCTGGACGCCACACTATCTGA	0.647													G|||	345	0.0688898	0.0204	0.0821	5008	,	,		17834	0.0		0.1262	False		,,,				2504	0.137															0									,,,	206,4198	800.2+/-415.6	2,202,1998	59	48	52		,,,744	-10.2	0	7	dbSNP_129	52	1354,7244	751.8+/-407.4	106,1142,3051	no	intron,intron,intron,coding-synonymous	C7orf50,GPR146	NM_001134395.1,NM_001134396.1,NM_032350.5,NM_138445.2	,,,	108,1344,5049	GG,GA,AA		15.7478,4.6776,11.9982	,,,	,,,248/334	1097895	1560,11442	2202	4299	6501	SO:0001819	synonymous_variant	115330			BC014241	CCDS5321.1	7p22.3	2012-08-21			ENSG00000164849	ENSG00000164849		"GPCR / Class A : Orphans"	21718	protein-coding gene	gene with protein product							Standard	NM_138445		Approved	PGR8	uc003sjy.1	Q96CH1	OTTHUMG00000023934	ENST00000397095.1:c.744A>G	7.37:g.1097895A>G			Q86SP5	Silent	SNP	ENST00000397095.1	37	CCDS5321.1																																																																																				0.647	GPR146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206855.1	NM_138445		G	1097895	A	G	1097895	2	3	707	1	0	0	0	0	0	0	0	1	6654	146	6	3		3	GPR146	7	1097895	Silent	SNP	A	TCGA-KL-8338-01A-11D-2310-10		1097895	158040768	25	39424											
SEMA3C	10512	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	7	80458056	80458056	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr7:80458056G>A	ENST00000265361.3	-	3	670	c.109C>T	c.(109-111)Cga>Tga	p.R37*	SEMA3C_ENST00000536800.1_Intron|SEMA3C_ENST00000544525.1_Nonsense_Mutation_p.R55*|SEMA3C_ENST00000419255.2_Nonsense_Mutation_p.R37*	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	37	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)	p.R37*(1)		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						TTGGTTTCTCGAAGTTCTGAA	0.348																																																1	Substitution - Nonsense(1)	skin(1)											93	91	92					7																	80458056		2203	4300	6503	SO:0001587	stop_gained	10512			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.109C>T	7.37:g.80458056G>A	ENSP00000265361:p.Arg37*		B4DRL8	Nonsense_Mutation	SNP	ENST00000265361.3	37	CCDS5596.1	.	.	.	.	.	.	.	.	.	.	G	40	8.392540	0.98791	.	.	ENSG00000075223	ENST00000265361;ENST00000419255;ENST00000544525	.	.	.	5.77	4.89	0.63831	.	0.171329	0.52532	D	0.000078	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	14.7854	0.69800	0.069:0.0:0.931:0.0	.	.	.	.	X	37;37;55	.	ENSP00000265361:R37X	R	-	1	2	SEMA3C	80295992	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	4.197000	0.58413	1.447000	0.47661	-0.142000	0.14014	CGA		0.348	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253279.1	NM_006379		A	80458056	G	A	80458056	4	1	707	1	0	0	0	0	0	1	0	0	14032	1066	37	1	2210	1	SEMA3C	7	80458056	Nonsense_Mutation	SNP	G	TCGA-KL-8338-01A-11D-2310-10	79360161	80458056	78680607	26	39425											
ZNF789	285989	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	7	99084964	99084964	+	Silent	SNP	G	G	A	rs148718204	byFrequency	TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr7:99084964G>A	ENST00000331410.5	+	5	1401	c.1131G>A	c.(1129-1131)acG>acA	p.T377T	ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000494186.1_Intron	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN	zinc finger protein 789	377					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11	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)					GTGGGAAAACGTTTAGTTTTA	0.403																																																0								G		7,4399	12.9+/-30.5	0,7,2196	138	136	137		1131	-5.8	0.2	7	dbSNP_134	137	0,8600		0,0,4300	no	coding-synonymous	ZNF789	NM_213603.2		0,7,6496	AA,AG,GG		0.0,0.1589,0.0538		377/426	99084964	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	285989			AK093141	CCDS34693.1, CCDS34694.1	7q22.1	2013-01-08			ENSG00000198556	ENSG00000198556		"Zinc fingers, C2H2-type", "-"	27801	protein-coding gene	gene with protein product						12477932	Standard	XM_005250281		Approved		uc003uqq.1	Q5FWF6	OTTHUMG00000154601	ENST00000331410.5:c.1131G>A	7.37:g.99084964G>A			A4D282|A6NH61|Q6ZMZ9	Silent	SNP	ENST00000331410.5	37	CCDS34693.1																																																																																				0.403	ZNF789-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336266.1	NM_213603		A	99084964	G	A	99084964	2	1	707	1	0	0	0	0	0	0	0	1	18165	1132	40	1		1	ZNF789	7	99084964	Silent	SNP	G	TCGA-KL-8338-01A-11D-2310-10	18626908	99084964	60053699	27	39426											
CSMD3	114788	bcgsc.ca	37	8	113516067	113516067	+	Missense_Mutation	SNP	G	G	A	rs368685063		TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr8:113516067G>A	ENST00000297405.5	-	30	5279	c.5035C>T	c.(5035-5037)Cgg>Tgg	p.R1679W	CSMD3_ENST00000455883.2_Missense_Mutation_p.R1575W|CSMD3_ENST00000343508.3_Missense_Mutation_p.R1639W|CSMD3_ENST00000352409.3_Missense_Mutation_p.R1679W	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1679	CUB 9. {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						CCATCACTCCGAAAAGCCAAA	0.343										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																						0								G	TRP/ARG,TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	160	144	149		4723,5035,4915	5.1	1	8		149	0,8600		0,0,4300	no	missense,missense,missense	CSMD3	NM_052900.2,NM_198123.1,NM_198124.1	101,101,101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	1575/3539,1679/3708,1639/3668	113516067	1,13005	2203	4300	6503	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.5035C>T	8.37:g.113516067G>A	ENSP00000297405:p.Arg1679Trp		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.687673	0.88639	2.27E-4	0.0	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.21191	2.02;2.02;2.02;2.02;2.02	5.08	5.08	0.68730	CUB (5);	0.000000	0.64402	D	0.000002	T	0.54854	0.1884	M	0.89095	3.005	0.50813	D	0.999892	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.99;0.994;0.998	T	0.61530	-0.7044	10	0.52906	T	0.07	.	18.6626	0.91477	0.0:0.0:1.0:0.0	.	1575;1679;1639	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	W	1639;1679;1019;1575;1679	ENSP00000345799:R1639W;ENSP00000297405:R1679W;ENSP00000341558:R1019W;ENSP00000412263:R1575W;ENSP00000343124:R1679W	ENSP00000297405:R1679W	R	-	1	2	CSMD3	113585243	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.538000	0.98072	2.629000	0.89072	0.650000	0.86243	CGG		0.343	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		A	113516067	G	A	113516067	3	1	707	1	0	0	0	0	1	0	0	0	3948	1057	37	1	6256	1	CSMD3	8	113516067	Missense_Mutation	SNP	G	TCGA-KL-8338-01A-11D-2310-10		113516067	32847955	28	39427											
OLFML2A	169611	broad.mit.edu	37	9	127572090	127572090	+	Missense_Mutation	SNP	G	G	A	rs201784600		TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr9:127572090G>A	ENST00000373580.3	+	8	1358	c.1358G>A	c.(1357-1359)cGc>cAc	p.R453H	OLFML2A_ENST00000288815.5_Missense_Mutation_p.R239H	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	453	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						CCTGCAGGCCGCTGGAGTAAC	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		17402	0.0		0.001	False		,,,				2504	0.0															0								G	HIS/ARG	0,4406		0,0,2203	93	85	88		1358	6.2	1	9		88	1,8599	1.2+/-3.3	0,1,4299	no	missense	OLFML2A	NM_182487.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	453/653	127572090	1,13005	2203	4300	6503	SO:0001583	missense	169611			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.1358G>A	9.37:g.127572090G>A	ENSP00000362682:p.Arg453His		Q5JTM5|Q5JTM6|Q6UXW1|Q7Z5V3	Missense_Mutation	SNP	ENST00000373580.3	37	CCDS6857.2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	35	5.504096	0.96371	0.0	1.16E-4	ENSG00000185585	ENST00000342100;ENST00000373580;ENST00000288815	D;D	0.89617	-2.54;-2.54	6.17	6.17	0.99709	Olfactomedin-like (3);	0.000000	0.85682	D	0.000000	D	0.95548	0.8553	M	0.86740	2.835	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.975;0.999	D	0.95312	0.8413	10	0.87932	D	0	.	19.8676	0.96824	0.0:0.0:1.0:0.0	.	239;453	Q68BL7-3;Q68BL7	.;OLM2A_HUMAN	H	145;453;239	ENSP00000362682:R453H;ENSP00000288815:R239H	ENSP00000288815:R239H	R	+	2	0	OLFML2A	126611911	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	CGC		0.617	OLFML2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054046.2	NM_182487		A	127572090	G	A	127572090	3	1	707	1	0	0	0	0	1	0	0	0	10859	1087	38	1	1388	1	OLFML2A	9	127572090	Missense_Mutation	SNP	G	TCGA-KL-8338-01A-11D-2310-10		127572090	13641341	29	39428											
GPSM1	26086	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	9	139231484	139231484	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr9:139231484C>T	ENST00000440944.1	+	4	753	c.533C>T	c.(532-534)cCg>cTg	p.P178L	GPSM1_ENST00000392945.3_Missense_Mutation_p.P178L	NM_001145638.1	NP_001139110	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1	178	Mediates association with membranes. {ECO:0000250}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GDP-dissociation inhibitor activity (GO:0005092)			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		GGGCACCTGCCGCCCGATGTC	0.662																																																0													39	36	37					9																	139231484		2115	4176	6291	SO:0001583	missense	26086			AI272212	CCDS6996.2, CCDS48055.1, CCDS48056.1	9q34.3	2013-01-10	2010-06-24		ENSG00000160360	ENSG00000160360		"Tetratricopeptide (TTC) repeat domain containing"	17858	protein-coding gene	gene with protein product	"AGS3 homolog (C. elegans)"	609491	"G-protein signalling modulator 1 (AGS3-like, C. elegans)"			11278352, 10969064	Standard	NM_001145639		Approved	AGS3, DKFZP727I051	uc004chd.2	Q86YR5	OTTHUMG00000020930	ENST00000440944.1:c.533C>T	9.37:g.139231484C>T	ENSP00000392828:p.Pro178Leu		A9Z1X4|B1B0W3|Q86SR5|Q969T1|Q9UFS8	Missense_Mutation	SNP	ENST00000440944.1	37	CCDS48055.1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.473531	0.63737	.	.	ENSG00000160360	ENST00000392945;ENST00000440944;ENST00000354753	D;D;D	0.90444	-2.65;-2.65;-2.67	3.79	3.79	0.43588	Tetratricopeptide-like helical (1);	0.068976	0.64402	U	0.000013	D	0.93910	0.8051	M	0.74647	2.275	0.80722	D	1	D;D	0.89917	1.0;0.999	P;P	0.61328	0.887;0.85	D	0.94277	0.7516	10	0.52906	T	0.07	-12.041	15.5081	0.75757	0.0:1.0:0.0:0.0	.	178;178	Q86YR5;Q86YR5-3	GPSM1_HUMAN;.	L	178;178;155	ENSP00000376674:P178L;ENSP00000392828:P178L;ENSP00000346797:P155L	ENSP00000346797:P155L	P	+	2	0	GPSM1	138351305	0.998000	0.40836	0.940000	0.37924	0.889000	0.51656	3.792000	0.55476	2.050000	0.60909	0.563000	0.77884	CCG		0.662	GPSM1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015597		T	139231484	C	T	139231484	3	4	707	1	0	0	0	0	1	0	0	0	6736	652	23	1	547	1	GPSM1	9	139231484	Missense_Mutation	SNP	C	TCGA-KL-8338-01A-11D-2310-10	11659394	139231484	1981947	30	39429											
TAF1D	79101	broad.mit.edu	37	11	93471453	93471453	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr11:93471453delT	ENST00000448108.2	-	3	931	c.281delA	c.(280-282)aagfs	p.K96fs	TAF1D_ENST00000546088.1_5'Flank	NM_024116.3	NP_077021.1	Q9H5J8	TAF1D_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa	96					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 initiation from RNA polymerase I promoter (GO:0006361)	microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(1)|lung(3)|prostate(1)|skin(2)	7						CCTCTTTTTCTTTTTTTTATA	0.348																																																0													109	116	114					11																	93471453		2201	4298	6499	SO:0001589	frameshift_variant	79101				CCDS8293.1	11q21	2012-05-30	2008-09-30	2008-09-30	ENSG00000166012	ENSG00000166012			28759	protein-coding gene	gene with protein product		612823	"Josephin domain containing 3"	JOSD3		15520167, 17318177	Standard	NM_024116		Approved	MGC5306, TAF(I)41	uc001pec.3	Q9H5J8	OTTHUMG00000167451	ENST00000448108.2:c.281delA	11.37:g.93471453delT	ENSP00000410409:p.Lys96fs		Q6I9Y6	Frame_Shift_Del	DEL	ENST00000448108.2	37	CCDS8293.1																																																																																				0.348	TAF1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394662.2	NM_024116		-	93471453	T	-	93471453	7	5	707	1	0	1	0	1	0	0	0	0	15527	1609	56	0	571	0	TAF1D	11	93471453	Frame_Shift_Del	DEL	T	TCGA-KL-8338-01A-11D-2310-10		93471453	41535063	31	39430											
PEBP1	5037	ucsc.edu	37	12	118574067	118574067	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr12:118574067A>G	ENST00000261313.2	+	1	405	c.53A>G	c.(52-54)gAc>gGc	p.D18G		NM_002567.2	NP_002558.1	P30086	PEBP1_HUMAN	phosphatidylethanolamine binding protein 1	18						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|phosphatidylethanolamine binding (GO:0008429)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|serine-type endopeptidase inhibitor activity (GO:0004867)			ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAAGAAGTGGACGAGCAGCCG	0.711																																					NSCLC(44;94 1357 12187 49467)											0													12	13	13					12																	118574067		1894	3543	5437	SO:0001583	missense	5037			X85033	CCDS9187.1	12q24	2009-06-16	2006-02-16	2006-02-16	ENSG00000089220	ENSG00000089220			8630	protein-coding gene	gene with protein product	"Raf kinase inhibitory protein", "hippocampal cholinergic neurostimulating peptide"	604591	"prostatic binding protein"	PBP		15782137	Standard	NM_002567		Approved	RKIP, HCNP, PEBP	uc001twu.1	P30086	OTTHUMG00000168860	ENST00000261313.2:c.53A>G	12.37:g.118574067A>G	ENSP00000261313:p.Asp18Gly		B2R4S1	Missense_Mutation	SNP	ENST00000261313.2	37	CCDS9187.1	.	.	.	.	.	.	.	.	.	.	A	30	5.049727	0.93740	.	.	ENSG00000089220	ENST00000261313;ENST00000418769	T	0.33865	1.39	4.75	4.75	0.60458	.	0.301525	0.39615	N	0.001304	T	0.59101	0.2169	M	0.85373	2.75	0.42300	D	0.992176	D;P	0.67145	0.996;0.931	P;P	0.58820	0.846;0.585	T	0.66763	-0.5841	10	0.52906	T	0.07	.	14.4148	0.67142	1.0:0.0:0.0:0.0	.	18;18	B4DRT4;P30086	.;PEBP1_HUMAN	G	18	ENSP00000261313:D18G	ENSP00000261313:D18G	D	+	2	0	PEBP1	117058450	1.000000	0.71417	0.953000	0.39169	0.740000	0.42216	8.273000	0.89887	2.009000	0.58944	0.402000	0.26972	GAC		0.711	PEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401405.1	NM_002567		G	118574067	A	G	118574067	3	3	707	1	0	0	0	0	1	0	0	0	11715	275	10	3	55	3	PEBP1	12	118574067	Missense_Mutation	SNP	A	TCGA-KL-8338-01A-11D-2310-10		118574067	15277828	32	39431											
CASC5	57082	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	15	40944268	40944268	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr15:40944268C>T	ENST00000346991.5	+	22	6848	c.6458C>T	c.(6457-6459)aCg>aTg	p.T2153M	CASC5_ENST00000399668.2_Missense_Mutation_p.T2127M			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	2153	Necessary for kinetochore localization and for interaction with NSL1 and DSN1.				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)		GTTTATGACACGATACAACTC	0.378																																																0													114	102	106					15																	40944268		1897	4129	6026	SO:0001583	missense	57082			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.6458C>T	15.37:g.40944268C>T	ENSP00000335463:p.Thr2153Met		Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	ENST00000346991.5	37	CCDS42023.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.863076	0.51482	.	.	ENSG00000137812	ENST00000346991;ENST00000399668	T;T	0.06933	3.24;3.24	5.4	5.4	0.78164	.	0.206901	0.41500	D	0.000876	T	0.19208	0.0461	L	0.36672	1.1	0.30216	N	0.797228	D;D	0.89917	1.0;0.999	D;P	0.63703	0.917;0.882	T	0.00630	-1.1636	10	0.87932	D	0	.	16.0887	0.81076	0.0:1.0:0.0:0.0	.	2127;2153	Q8NG31-2;Q8NG31	.;CASC5_HUMAN	M	2153;2127	ENSP00000335463:T2153M;ENSP00000382576:T2127M	ENSP00000335463:T2153M	T	+	2	0	CASC5	38731560	0.996000	0.38824	0.728000	0.30774	0.203000	0.24098	4.362000	0.59467	2.523000	0.85059	0.655000	0.94253	ACG		0.378	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508		T	40944268	C	T	40944268	3	4	707	1	0	0	0	0	1	0	0	0	2665	536	19	1	6540	1	CASC5	15	40944268	Missense_Mutation	SNP	C	TCGA-KL-8338-01A-11D-2310-10		40944268	61587124	33	39432											
SPATA5L1	79029	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	15	45707899	45707899	+	Missense_Mutation	SNP	C	C	A			TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr15:45707899C>A	ENST00000305560.6	+	5	1858	c.1759C>A	c.(1759-1761)Ctt>Att	p.L587I	SPATA5L1_ENST00000559860.1_Missense_Mutation_p.L587I	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	587						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)		AGAACGAGTTCTTTCTGTTCT	0.398																																																0													69	65	66					15																	45707899		2198	4298	6496	SO:0001583	missense	79029			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.1759C>A	15.37:g.45707899C>A	ENSP00000305494:p.Leu587Ile		C9JHR5|Q9H8W7|Q9HA41	Missense_Mutation	SNP	ENST00000305560.6	37	CCDS10123.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.0|23.0	4.363412|4.363412	0.82353|0.82353	.|.	.|.	ENSG00000171763|ENSG00000171763	ENST00000531624|ENST00000305560	.|D	.|0.93076	.|-3.16	5.54|5.54	4.61|4.61	0.57282|0.57282	.|ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	.|0.000000	.|0.64402	.|D	.|0.000001	D|D	0.93815|0.93815	0.8022|0.8022	L|L	0.42529|0.42529	1.33|1.33	0.41337|0.41337	D|D	0.987271|0.987271	.|D	.|0.54397	.|0.966	.|P	.|0.61397	.|0.888	D|D	0.92006|0.92006	0.5614|0.5614	5|10	.|0.21014	.|T	.|0.42	-18.5177|-18.5177	14.7514|14.7514	0.69528|0.69528	0.1461:0.8539:0.0:0.0|0.1461:0.8539:0.0:0.0	.|.	.|587	.|Q9BVQ7	.|SPA5L_HUMAN	L|I	91|587	.|ENSP00000305494:L587I	.|ENSP00000305494:L587I	F|L	+|+	3|1	2|0	SPATA5L1|SPATA5L1	43495191|43495191	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	6.522000|6.522000	0.73783|0.73783	1.450000|1.450000	0.47717|0.47717	-0.181000|-0.181000	0.13052|0.13052	TTC|CTT		0.398	SPATA5L1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254218.1	NM_024063		A	45707899	C	A	45707899	3	1	707	1	0	0	0	0	1	0	0	0	15017	913	32	4	1777	4	SPATA5L1	15	45707899	Missense_Mutation	SNP	C	TCGA-KL-8338-01A-11D-2310-10	4763631	45707899	56823493	34	39433											
ZNF609	23060	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	15	64966530	64966530	+	Missense_Mutation	SNP	G	G	A	rs200890644		TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr15:64966530G>A	ENST00000326648.3	+	4	1605	c.1477G>A	c.(1477-1479)Gtc>Atc	p.V493I	ZNF609_ENST00000559364.1_3'UTR|RNU6-549P_ENST00000384433.1_RNA	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	493						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						CCCCTCCCCCGTCCTAATTGA	0.522													G|||	1	0.000199681	0.0	0.0	5008	,	,		18089	0.0		0.0	False		,,,				2504	0.001															0								G	ILE/VAL	0,4406		0,0,2203	85	70	75		1477	5.6	1	15		75	6,8592	5.0+/-18.6	0,6,4293	yes	missense	ZNF609	NM_015042.1	29	0,6,6496	AA,AG,GG		0.0698,0.0,0.0461	benign	493/1412	64966530	6,12998	2203	4299	6502	SO:0001583	missense	23060			BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"Zinc fingers, C2H2-type"	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.1477G>A	15.37:g.64966530G>A	ENSP00000316527:p.Val493Ile		Q0D2I2	Missense_Mutation	SNP	ENST00000326648.3	37	CCDS32270.1	.	.	.	.	.	.	.	.	.	.	G	11.90	1.775434	0.31411	0.0	6.98E-4	ENSG00000180357	ENST00000326648	T	0.53857	0.6	5.61	5.61	0.85477	.	0.108019	0.64402	D	0.000006	T	0.38558	0.1045	L	0.33093	0.98	0.46849	D	0.999221	B	0.10296	0.003	B	0.13407	0.009	T	0.25676	-1.0125	10	0.33940	T	0.23	-11.9829	7.3316	0.26586	0.2008:0.0:0.7992:0.0	.	493	O15014	ZN609_HUMAN	I	493	ENSP00000316527:V493I	ENSP00000316527:V493I	V	+	1	0	ZNF609	62753583	1.000000	0.71417	0.987000	0.45799	0.989000	0.77384	4.442000	0.59988	2.638000	0.89438	0.650000	0.86243	GTC		0.522	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833		A	64966530	G	A	64966530	3	1	707	1	0	0	0	0	1	0	0	0	18040	1145	40	1	1491	1	ZNF609	15	64966530	Missense_Mutation	SNP	G	TCGA-KL-8338-01A-11D-2310-10	19258631	64966530	37564862	35	39434											
TP53	7157	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	17	7577114	7577114	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr17:7577114C>T	ENST00000269305.4	-	8	1013	c.824G>A	c.(823-825)tGt>tAt	p.C275Y	TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.C275Y|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.C275Y|TP53_ENST00000455263.2_Missense_Mutation_p.C275Y|TP53_ENST00000359597.4_Missense_Mutation_p.C275Y	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.C275Y(53)|p.C275F(37)|p.0?(8)|p.C275fs*70(3)|p.?(2)|p.C275S(2)|p.C275fs*20(1)|p.L265_K305del41(1)|p.R273_C275delRVC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.A276fs*29(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)	AGGACAGGCACAAACACGCAC	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)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	115	Substitution - Missense(92)|Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(6)|Unknown(2)	lung(14)|large_intestine(13)|breast(13)|upper_aerodigestive_tract(12)|central_nervous_system(10)|haematopoietic_and_lymphoid_tissue(10)|ovary(7)|urinary_tract(6)|stomach(5)|oesophagus(5)|bone(5)|liver(5)|skin(3)|pancreas(2)|NS(2)|prostate(2)|biliary_tract(1)	GRCh37	CM076568|CM951234	TP53	M							71	61	64					17																	7577114		2203	4300	6503	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.824G>A	17.37:g.7577114C>T	ENSP00000269305:p.Cys275Tyr		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	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.605675	0.87157	.	.	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	0.99883	0.9944	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;0.997;0.997	D	0.96317	0.9233	10	0.87932	D	0	-17.2181	15.662	0.77193	0.0:1.0:0.0:0.0	.	275;275;275;275	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	Y	275;275;275;275;275;264;143	ENSP00000352610:C275Y;ENSP00000269305:C275Y;ENSP00000398846:C275Y;ENSP00000391127:C275Y;ENSP00000391478:C275Y;ENSP00000425104:C143Y	ENSP00000269305:C275Y	C	-	2	0	TP53	7517839	1.000000	0.71417	0.999000	0.59377	0.904000	0.53231	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	TGT		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7577114	C	T	7577114	3	4	707	1	0	0	0	0	1	0	0	0	16386	478	17	2	462	2	TP53	17	7577114	Missense_Mutation	SNP	C	TCGA-KL-8338-01A-11D-2310-10		7577114	73618096	36	39435											
ZNF624	57547	bcgsc.ca	37	17	16527795	16527795	+	Missense_Mutation	SNP	C	C	A	rs8065506	byFrequency	TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr17:16527795C>A	ENST00000311331.7	-	6	496	c.405G>T	c.(403-405)aaG>aaT	p.K135N		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	135			K -> N (in dbSNP:rs8065506). {ECO:0000269|PubMed:10718198, ECO:0000269|PubMed:14702039}.		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)		TTCGTGTAGCCTTCTTGGTTG	0.413													A|||	2443	0.487819	0.6906	0.3847	5008	,	,		17540	0.5347		0.2674	False		,,,				2504	0.4652				NSCLC(186;1023 2134 13330 38202 39800)											0			GRCh37	CM067489	ZNF624	M	rs8065506	A	ASN/LYS	2841,1565	491.1+/-362.0	916,1009,278	93	88	90		405	2.9	0.2	17	dbSNP_116	90	2334,6266	704.8+/-405.4	301,1732,2267	yes	missense	ZNF624	NM_020787.3	94	1217,2741,2545	AA,AC,CC		27.1395,35.5197,39.7893	benign	135/866	16527795	5175,7831	2203	4300	6503	SO:0001583	missense	57547			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.405G>T	17.37:g.16527795C>A	ENSP00000310472:p.Lys135Asn		Q3SY62|Q3SY63|Q6ZN27	Missense_Mutation	SNP	ENST00000311331.7	37	CCDS11180.1	939	0.42994505494505497	319	0.6483739837398373	128	0.35359116022099446	301	0.5262237762237763	191	0.2519788918205805	A	0.062	-1.222243	0.01530	0.644803	0.271395	ENSG00000197566	ENST00000311331	T	0.05382	3.45	2.92	2.92	0.33932	.	.	.	.	.	T	0.00012	0.0000	N	0.17474	0.49	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.10314	-1.0635	8	0.16896	T	0.51	.	7.3813	0.26858	0.5465:0.4535:0.0:0.0	rs8065506;rs52795751;rs61430075;rs8065506	135	Q9P2J8	ZN624_HUMAN	N	135	ENSP00000310472:K135N	ENSP00000310472:K135N	K	-	3	2	ZNF624	16468520	0.001000	0.12720	0.193000	0.23327	0.310000	0.27922	0.419000	0.21247	0.537000	0.28751	-0.262000	0.10625	AAG		0.413	ZNF624-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130512.3	XM_047617		A	16527795	C	A	16527795	3	1	707	1	0	0	0	0	1	0	0	0	18053	680	24	4	2196	4	ZNF624	17	16527795	Missense_Mutation	SNP	C	TCGA-KL-8338-01A-11D-2310-10	8950681	16527795	64667415	37	39436											
UBTF	7343	mdanderson.org	37	17	42287519	42287519	+	Silent	SNP	C	C	T	rs2071167	byFrequency	TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr17:42287519C>T	ENST00000302904.4	-	15	2091	c.1599G>A	c.(1597-1599)aaG>aaA	p.K533K	UBTF_ENST00000527034.1_Silent_p.K496K|UBTF_ENST00000533177.1_Silent_p.K496K|UBTF_ENST00000529383.1_Silent_p.K533K|UBTF_ENST00000393606.3_Silent_p.K496K|UBTF_ENST00000343638.5_Silent_p.K496K|UBTF_ENST00000436088.1_Silent_p.K533K|UBTF_ENST00000526094.1_Silent_p.K496K|CTB-175E5.7_ENST00000586560.1_RNA			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	533					chromatin silencing at rDNA (GO:0000183)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|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)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CTTCGGCTGCCTTCTTAATCC	0.512											OREG0024456	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	2261	0.451478	0.6157	0.3646	5008	,	,		21021	0.6915		0.2416	False		,,,				2504	0.2597															0								C	,,	2335,2071	605.8+/-390.6	617,1101,485	187	195	192		1488,1488,1599	3.3	1	17	dbSNP_96	192	2174,6426	372.0+/-336.5	280,1614,2406	no	coding-synonymous,coding-synonymous,coding-synonymous	UBTF	NM_001076683.1,NM_001076684.2,NM_014233.3	,,	897,2715,2891	TT,TC,CC		25.2791,47.0041,34.6686	,,	496/728,496/728,533/765	42287519	4509,8497	2203	4300	6503	SO:0001819	synonymous_variant	7343			BC042297	CCDS11480.1, CCDS42346.1	17q21.31	2014-03-25			ENSG00000108312	ENSG00000108312			12511	protein-coding gene	gene with protein product		600673				9126496	Standard	NM_001076683		Approved	UBF, NOR-90, UBF1, UBF2	uc010czs.3	P17480	OTTHUMG00000167585	ENST00000302904.4:c.1599G>A	17.37:g.42287519C>T		907	A8K6R8	Silent	SNP	ENST00000302904.4	37	CCDS11480.1																																																																																				0.512	UBTF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395205.1	NM_014233		T	42287519	C	T	42287519	2	4	707	1	0	0	0	0	0	0	0	1	16914	680	24	2		2	UBTF	17	42287519	Silent	SNP	C	TCGA-KL-8338-01A-11D-2310-10	25759724	42287519	38907691	38	39437											
CACNA1G	8913	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	17	48653145	48653145	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr17:48653145G>A	ENST00000359106.5	+	8	1382	c.1382G>A	c.(1381-1383)cGg>cAg	p.R461Q	CACNA1G_ENST00000515411.1_Missense_Mutation_p.R461Q|CACNA1G_ENST00000502264.1_Missense_Mutation_p.R461Q|CACNA1G_ENST00000514717.1_Missense_Mutation_p.R461Q|CACNA1G_ENST00000510115.1_Missense_Mutation_p.R461Q|CACNA1G_ENST00000513964.1_Missense_Mutation_p.R461Q|CACNA1G_ENST00000507510.2_Missense_Mutation_p.R461Q|CACNA1G_ENST00000515165.1_Missense_Mutation_p.R461Q|CACNA1G_ENST00000429973.2_Missense_Mutation_p.R461Q|CACNA1G_ENST00000360761.4_Missense_Mutation_p.R461Q|CACNA1G_ENST00000507896.1_Missense_Mutation_p.R461Q|CACNA1G_ENST00000358244.5_Missense_Mutation_p.R461Q|CACNA1G_ENST00000503485.1_Missense_Mutation_p.R461Q|CACNA1G_ENST00000510366.1_Missense_Mutation_p.R461Q|CACNA1G_ENST00000416767.4_Missense_Mutation_p.R461Q|CACNA1G_ENST00000514181.1_Missense_Mutation_p.R461Q|CACNA1G_ENST00000352832.5_Missense_Mutation_p.R461Q|CACNA1G_ENST00000514079.1_Missense_Mutation_p.R461Q|CACNA1G_ENST00000354983.4_Missense_Mutation_p.R461Q|CACNA1G_ENST00000512389.1_Missense_Mutation_p.R461Q|CACNA1G_ENST00000442258.2_Missense_Mutation_p.R461Q|CACNA1G_ENST00000507609.1_Missense_Mutation_p.R461Q|CACNA1G_ENST00000515765.1_Missense_Mutation_p.R461Q|CACNA1G_ENST00000505165.1_Missense_Mutation_p.R461Q|CACNA1G_ENST00000513689.2_Missense_Mutation_p.R461Q|CACNA1G_ENST00000507336.1_Missense_Mutation_p.R461Q	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	461					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)	GCAGGTGTGCGGGTTGGGCTG	0.677																																																0													10	13	12					17																	48653145		1905	4073	5978	SO:0001583	missense	8913			AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.1382G>A	17.37:g.48653145G>A	ENSP00000352011:p.Arg461Gln		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	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	g	15.01	2.705026	0.48412	.	.	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	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	0.97114	-4.12;-4.12;-4.25;-4.06;-4.12;-4.11;-4.15;-4.18;-4.15;-4.16;-4.17;-4.07;-4.07;-4.12;-4.11;-4.05;-4.15;-4.1;-4.07;-4.15;-4.12;-4.08;-4.14;-4.07;-4.14;-4.14	5.15	4.18	0.49190	.	0.317948	0.29783	N	0.011202	D	0.97433	0.9160	L	0.61036	1.89	0.37399	D	0.912769	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;P;D;D;D;D;D;D;D;D;B;D	0.76494	0.998;0.983;0.997;0.997;0.992;0.998;0.999;0.985;0.999;0.963;0.992;0.99;0.983;0.985;0.999;0.926;0.998;0.959;0.992;0.996;0.998;0.983;0.992;0.983;0.024;0.999	D;B;P;D;P;P;D;P;D;P;P;P;P;P;D;P;P;B;P;P;D;P;P;P;B;P	0.73380	0.96;0.389;0.895;0.98;0.656;0.895;0.974;0.573;0.974;0.474;0.59;0.69;0.493;0.59;0.974;0.474;0.791;0.305;0.573;0.781;0.945;0.493;0.504;0.474;0.003;0.897	D	0.98025	1.0373	10	0.62326	D	0.03	.	8.3868	0.32505	0.2364:0.0:0.7636:0.0	.	461;461;461;461;461;461;461;461;461;461;461;461;461;461;461;461;461;461;461;461;461;461;461;461;461;461	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;.;.	Q	461	ENSP00000353990:R461Q;ENSP00000339302:R461Q;ENSP00000392390:R461Q;ENSP00000347078:R461Q;ENSP00000409759:R461Q;ENSP00000425522:R461Q;ENSP00000426261:R461Q;ENSP00000425451:R461Q;ENSP00000422407:R461Q;ENSP00000426814:R461Q;ENSP00000427238:R461Q;ENSP00000423112:R461Q;ENSP00000420918:R461Q;ENSP00000426172:R461Q;ENSP00000423045:R461Q;ENSP00000427173:R461Q;ENSP00000426098:R461Q;ENSP00000425698:R461Q;ENSP00000426232:R461Q;ENSP00000423317:R461Q;ENSP00000350979:R461Q;ENSP00000352011:R461Q;ENSP00000414388:R461Q;ENSP00000423155:R461Q;ENSP00000422268:R461Q;ENSP00000421518:R461Q	ENSP00000339302:R461Q	R	+	2	0	CACNA1G	46008144	1.000000	0.71417	0.995000	0.50966	0.130000	0.20726	2.164000	0.42387	1.163000	0.42636	0.655000	0.94253	CGG		0.677	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		A	48653145	G	A	48653145	3	1	707	1	0	0	0	0	1	0	0	0	2546	1116	39	1	1412	1	CACNA1G	17	48653145	Missense_Mutation	SNP	G	TCGA-KL-8338-01A-11D-2310-10	6365626	48653145	32542065	39	39438											
RNMT	8731	broad.mit.edu	37	18	13746253	13746253	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr18:13746253delA	ENST00000383314.2	+	9	1414	c.1174delA	c.(1174-1176)aaafs	p.K393fs	RNMT_ENST00000589866.1_Frame_Shift_Del_p.K393fs|RNMT_ENST00000262173.3_Frame_Shift_Del_p.K393fs|RNMT_ENST00000592764.1_Frame_Shift_Del_p.K393fs|RNMT_ENST00000535051.1_Frame_Shift_Del_p.K151fs|RNMT_ENST00000543302.2_Frame_Shift_Del_p.K393fs			O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	393	mRNA cap 0 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00895}.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA (guanine-N7)-methylation (GO:0036265)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|receptor complex (GO:0043235)	mRNA (guanine-N7-)-methyltransferase activity (GO:0004482)|RNA binding (GO:0003723)	p.T394fs*19(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						ACTAGTCTACAAAAAAACATT	0.308																																					GBM(29;474 594 19092 36647 41529)											1	Deletion - Frameshift(1)	large_intestine(1)											65	70	68					18																	13746253		2202	4299	6501	SO:0001589	frameshift_variant	8731			AF067791	CCDS11867.1	18p11.21	2008-05-14			ENSG00000101654	ENSG00000101654	2.1.1.56		10075	protein-coding gene	gene with protein product		603514				9828141, 9705270	Standard	NM_003799		Approved	RG7MT1	uc002ksl.1	O43148	OTTHUMG00000131718	ENST00000383314.2:c.1174delA	18.37:g.13746253delA	ENSP00000372804:p.Lys393fs		B0YJ90|D3DUJ5|O94996|Q9UIJ9	Frame_Shift_Del	DEL	ENST00000383314.2	37	CCDS11867.1																																																																																				0.308	RNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254636.1	NM_003799		-	13746253	A	-	13746253	7	5	707	1	0	1	0	1	0	0	0	0	13512	131	5	0	1200	0	RNMT	18	13746253	Frame_Shift_Del	DEL	A	TCGA-KL-8338-01A-11D-2310-10		13746253	64330995	40	39439											
C19orf70	125988	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	19	5679701	5679701	+	Missense_Mutation	SNP	C	C	A			TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr19:5679701C>A	ENST00000309324.4	-	2	512	c.103G>T	c.(103-105)Gac>Tac	p.D35Y	HSD11B1L_ENST00000422535.2_5'Flank|RPL36_ENST00000579649.1_Intron|HSD11B1L_ENST00000342970.2_5'Flank|HSD11B1L_ENST00000301382.4_5'Flank|RPL36_ENST00000577222.1_5'Flank|C19orf70_ENST00000585605.1_5'UTR|HSD11B1L_ENST00000339423.2_5'Flank|HSD11B1L_ENST00000581773.1_5'Flank|C19orf70_ENST00000590389.1_Missense_Mutation_p.D57Y|HSD11B1L_ENST00000411793.2_5'Flank|HSD11B1L_ENST00000583928.1_5'Flank|HSD11B1L_ENST00000423665.2_5'Flank|C19orf70_ENST00000587950.1_Missense_Mutation_p.D57Y|HSD11B1L_ENST00000577917.1_5'Flank|HSD11B1L_ENST00000581521.1_5'Flank|HSD11B1L_ENST00000581893.1_5'Flank|C19orf70_ENST00000587589.1_Missense_Mutation_p.D35Y	NM_205767.1	NP_991330.1	Q5XKP0	QIL1_HUMAN	chromosome 19 open reading frame 70	35						mitochondrion (GO:0005739)				endometrium(1)|lung(1)	2						TGGCTCTTGTCGCTGGGCCCC	0.647																																																0													31	28	29					19																	5679701		2203	4299	6502	SO:0001583	missense	125988			BC009557	CCDS12143.1	19p13.3	2012-10-26			ENSG00000174917	ENSG00000174917			33702	protein-coding gene	gene with protein product						14702039, 17353931	Standard	NM_205767		Approved	QIL1, P117	uc002mch.1	Q5XKP0		ENST00000309324.4:c.103G>T	19.37:g.5679701C>A	ENSP00000309561:p.Asp35Tyr		Q86YE5	Missense_Mutation	SNP	ENST00000309324.4	37	CCDS12143.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.267720	0.40095	.	.	ENSG00000174917	ENST00000309324	T	0.27720	1.65	4.74	2.45	0.29901	.	0.608391	0.14659	N	0.306042	T	0.37404	0.1002	L	0.51422	1.61	0.36444	D	0.865693	D	0.56035	0.974	P	0.52823	0.71	T	0.49606	-0.8922	10	0.72032	D	0.01	-38.7297	9.7456	0.40444	0.1521:0.6992:0.1487:0.0	.	35	Q5XKP0	QIL1_HUMAN	Y	35	ENSP00000309561:D35Y	ENSP00000309561:D35Y	D	-	1	0	C19orf70	5630701	0.004000	0.15560	0.998000	0.56505	0.976000	0.68499	0.225000	0.17757	2.187000	0.69744	0.462000	0.41574	GAC		0.647	C19orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451656.1	NM_205767		A	5679701	C	A	5679701	3	1	707	1	0	0	0	0	1	0	0	0	1949	884	31	4	265	4	C19orf70	19	5679701	Missense_Mutation	SNP	C	TCGA-KL-8338-01A-11D-2310-10		5679701	53449282	41	39440											
FUT3	2525	bcgsc.ca	37	19	5843877	5843877	+	Missense_Mutation	SNP	G	G	A	rs28381969	byFrequency	TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr19:5843877G>A	ENST00000303225.6	-	3	1608	c.974C>T	c.(973-975)aCg>aTg	p.T325M	FUT3_ENST00000589918.1_Missense_Mutation_p.T325M|FUT3_ENST00000458379.2_Missense_Mutation_p.T325M|FUT3_ENST00000593144.1_5'Flank|FUT3_ENST00000589620.1_Missense_Mutation_p.T325M	NM_000149.3	NP_000140	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	325			T -> M (in dbSNP:rs28381969). {ECO:0000269|Ref.5}.		cell-cell recognition (GO:0009988)|fucosylation (GO:0036065)|macromolecule glycosylation (GO:0043413)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						AGGCCGCAGCGTCTCCCGCCA	0.637													G|||	37	0.00738818	0.025	0.0043	5008	,	,		19604	0.001		0.0	False		,,,				2504	0.0				Esophageal Squamous(82;745 1728 24593 44831)											0													42	45	44					19																	5843877		2203	4300	6503	SO:0001583	missense	2525				CCDS12153.1	19p13.3	2014-07-19	2006-01-12		ENSG00000171124	ENSG00000171124	2.4.1.65	"CD molecules", "Blood group antigens", "Fucosyltransferases"	4014	protein-coding gene	gene with protein product		111100	"fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group included)"	LE		1977660, 1740457	Standard	NM_000149		Approved	CD174	uc002mdk.2	P21217	OTTHUMG00000180614	ENST00000303225.6:c.974C>T	19.37:g.5843877G>A	ENSP00000305603:p.Thr325Met		B5U7U9|B5U7V0|Q32NE7|Q99448|Q99449	Missense_Mutation	SNP	ENST00000303225.6	37	CCDS12153.1	36	0.016483516483516484	18	0.036585365853658534	1	0.0027624309392265192	6	0.01048951048951049	11	0.014511873350923483	G	12.11	1.838692	0.32513	.	.	ENSG00000171124	ENST00000303225;ENST00000458379	T;T	0.24350	1.86;1.86	2.29	1.18	0.20946	.	0.943966	0.08680	N	0.909636	T	0.07413	0.0187	M	0.79805	2.47	0.09310	N	1	P;P;P;P	0.38617	0.64;0.483;0.483;0.483	B;B;B;B	0.36186	0.219;0.148;0.148;0.148	T	0.11494	-1.0585	10	0.37606	T	0.19	.	5.4124	0.16356	0.1897:0.0:0.8103:0.0	rs28381969	325;325;325;325	B3W6H0;A8K737;B3GVC1;P21217	.;.;.;FUT3_HUMAN	M	325	ENSP00000305603:T325M;ENSP00000416443:T325M	ENSP00000305603:T325M	T	-	2	0	FUT3	5794877	0.000000	0.05858	0.620000	0.29132	0.507000	0.33981	-1.150000	0.03178	0.242000	0.21303	0.194000	0.17425	ACG		0.637	FUT3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452204.1	NM_000149		A	5843877	G	A	5843877	3	1	707	1	0	0	0	0	1	0	0	0	6107	1145	40	1	115	1	FUT3	19	5843877	Missense_Mutation	SNP	G	TCGA-KL-8338-01A-11D-2310-10	164176	5843877	53285106	42	39441											
TMEM150B	284417	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	19	55824239	55824239	+	Silent	SNP	C	C	T			TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr19:55824239C>T	ENST00000326652.4	-	8	872	c.690G>A	c.(688-690)ccG>ccA	p.P230P	TMEM150B_ENST00000438693.1_Silent_p.P230P|CTD-2105E13.14_ENST00000596786.1_RNA	NM_001282011.1	NP_001268940.1	A6NC51	T150B_HUMAN	transmembrane protein 150B	230						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)	3						ACAGCTGGACCGGCAGGGAGA	0.667																																																0													6	8	8					19																	55824239		1959	4082	6041	SO:0001819	synonymous_variant	284417			BC020862	CCDS42629.1	19q13.42	2009-06-12	2009-06-12	2009-06-12		ENSG00000180061			34415	protein-coding gene	gene with protein product			"transmembrane protein 224"	TMEM224			Standard	XM_005258812		Approved		uc010esw.1	A6NC51		ENST00000326652.4:c.690G>A	19.37:g.55824239C>T			B7ZW71	Silent	SNP	ENST00000326652.4	37	CCDS42629.1																																																																																				0.667	TMEM150B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452685.1	NM_001085488		T	55824239	C	T	55824239	2	4	707	1	0	0	0	0	0	0	0	1	16073	639	23	1		1	TMEM150B	19	55824239	Silent	SNP	C	TCGA-KL-8338-01A-11D-2310-10	49980362	55824239	3304744	43	39442											
EDEM2	55741	bcgsc.ca	37	20	33711701	33711701	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr20:33711701A>G	ENST00000374492.3	-	9	1211	c.1106T>C	c.(1105-1107)cTt>cCt	p.L369P	EDEM2_ENST00000540582.1_Missense_Mutation_p.L328P|EDEM2_ENST00000374491.3_Missense_Mutation_p.L332P|EDEM2_ENST00000541621.1_Missense_Mutation_p.L148P|EDEM2_ENST00000542871.1_Missense_Mutation_p.L93P	NM_018217.2	NP_060687.2	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	369					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			ACCTGGCCGAAGTGGGTAGCC	0.542																																					Esophageal Squamous(51;906 1021 24535 36410 39145)											0													91	79	83					20																	33711701		2203	4300	6503	SO:0001583	missense	55741			AK001645	CCDS13247.1, CCDS46592.1	20q11.22	2006-03-31	2006-03-31	2006-03-31	ENSG00000088298	ENSG00000088298			15877	protein-coding gene	gene with protein product		610302	"chromosome 20 open reading frame 31"	C20orf49, C20orf31		15537790, 15579471	Standard	NM_018217		Approved	FLJ10783, bA4204.1	uc002xbo.2	Q9BV94	OTTHUMG00000032322	ENST00000374492.3:c.1106T>C	20.37:g.33711701A>G	ENSP00000363616:p.Leu369Pro		B4DTG9|Q6GU33|Q6IA89|Q6UWZ4|Q9H4U0|Q9H886|Q9NTL9|Q9NVE6	Missense_Mutation	SNP	ENST00000374492.3	37	CCDS13247.1	.	.	.	.	.	.	.	.	.	.	A	28.1	4.886671	0.91814	.	.	ENSG00000088298	ENST00000374491;ENST00000374492;ENST00000541621;ENST00000542871;ENST00000540582	T;T;T;T;T	0.56275	0.47;0.47;0.47;0.47;0.47	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.83691	0.5309	H	0.98664	4.295	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	0.90157	0.4225	10	0.87932	D	0	-15.4479	16.3662	0.83325	1.0:0.0:0.0:0.0	.	328;148;332;369	F5GZ44;G3V1Q0;Q9BV94-2;Q9BV94	.;.;.;EDEM2_HUMAN	P	332;369;148;93;328	ENSP00000363615:L332P;ENSP00000363616:L369P;ENSP00000443528:L148P;ENSP00000441642:L93P;ENSP00000441548:L328P	ENSP00000363615:L332P	L	-	2	0	EDEM2	33175362	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	9.339000	0.96797	2.274000	0.75844	0.533000	0.62120	CTT		0.542	EDEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078842.2	NM_018217		G	33711701	A	G	33711701	3	3	707	1	0	0	0	0	1	0	0	0	4914	72	3	3	642	3	EDEM2	20	33711701	Missense_Mutation	SNP	A	TCGA-KL-8338-01A-11D-2310-10		33711701	29313819	44	39443											
MN1	4330	mdanderson.org	37	22	28194900	28194900	+	Silent	SNP	T	T	C	rs202212250|rs530519178	byFrequency	TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr22:28194900T>C	ENST00000302326.4	-	1	2586	c.1632A>G	c.(1630-1632)caA>caG	p.Q544Q		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						gctgctgctgttgctgttgct	0.647			T	ETV6	"AML, meningioma"								C|||	5	0.000998403	0.0023	0.0	5008	,	,		12597	0.0		0.0	False		,,,				2504	0.002						Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"L, O"	0																																										SO:0001819	synonymous_variant	4330			X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"probable tumor suppressor protein MN1"	156100	"meningioma chromosome region"	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.1632A>G	22.37:g.28194900T>C			A9Z1V9	Silent	SNP	ENST00000302326.4	37	CCDS42998.1																																																																																				0.647	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		C	28194900	T	C	28194900	2	2	707	1	0	0	0	0	0	0	0	1	9675	1722	60	3		3	MN1	22	28194900	Silent	SNP	T	TCGA-KL-8338-01A-11D-2310-10		28194900	23109666	45	39444											
TRABD	80305	ucsc.edu	37	22	50636349	50636349	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr22:50636349T>C	ENST00000303434.4	+	8	888	c.769T>C	c.(769-771)Tcg>Ccg	p.S257P	TRABD_ENST00000380909.4_Missense_Mutation_p.S257P|RP3-402G11.26_ENST00000608025.1_RNA|TRABD_ENST00000395829.1_Missense_Mutation_p.S257P|TRABD_ENST00000395827.1_Missense_Mutation_p.S257P	NM_025204.2	NP_079480.2	Q9H4I3	TRABD_HUMAN	TraB domain containing	257										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)		CACCATCGTCTCGGAGCGCGA	0.657																																																0													141	106	118					22																	50636349		2203	4300	6503	SO:0001583	missense	80305			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.769T>C	22.37:g.50636349T>C	ENSP00000305664:p.Ser257Pro		Q19CC5|Q96ED8|Q9H7N1|Q9UGX6|Q9UGX7	Missense_Mutation	SNP	ENST00000303434.4	37	CCDS14086.1	.	.	.	.	.	.	.	.	.	.	T	11.25	1.584092	0.28268	.	.	ENSG00000170638	ENST00000380909;ENST00000303434;ENST00000395827;ENST00000395829	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.1	2.87	0.33458	.	0.190451	0.46442	D	0.000281	T	0.39410	0.1077	L	0.44542	1.39	0.48236	D	0.999612	B;P	0.39071	0.305;0.658	B;P	0.45428	0.242;0.48	T	0.10451	-1.0629	10	0.48119	T	0.1	-13.5527	8.1305	0.31024	0.1339:0.0:0.1404:0.7257	.	211;257	Q9H4I3-2;Q9H4I3	.;TRABD_HUMAN	P	257	ENSP00000370295:S257P;ENSP00000305664:S257P;ENSP00000379171:S257P;ENSP00000379173:S257P	ENSP00000305664:S257P	S	+	1	0	TRABD	48978476	1.000000	0.71417	0.027000	0.17364	0.040000	0.13550	2.494000	0.45329	0.235000	0.21160	-0.516000	0.04426	TCG		0.657	TRABD-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316987.1	NM_025204		C	50636349	T	C	50636349	3	2	707	1	0	0	0	0	1	0	0	0	16440	1551	54	3	795	3	TRABD	22	50636349	Missense_Mutation	SNP	T	TCGA-KL-8338-01A-11D-2310-10	22441449	50636349	668217	46	39445											
AFF2	2334	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	X	147924508	147924508	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chrX:147924508C>T	ENST00000370460.2	+	6	1671	c.1192C>T	c.(1192-1194)Cca>Tca	p.P398S	AFF2_ENST00000286437.5_Missense_Mutation_p.P39S|AFF2_ENST00000342251.3_Missense_Mutation_p.P365S|AFF2_ENST00000370457.5_Missense_Mutation_p.P365S|AFF2_ENST00000370458.1_Missense_Mutation_p.P365S	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	398					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)					GCATCTGACCCCAGGATTCAC	0.348																																																0													92	87	89					X																	147924508		2203	4299	6502	SO:0001583	missense	2334			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.1192C>T	X.37:g.147924508C>T	ENSP00000359489:p.Pro398Ser		A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	C	8.659	0.900042	0.17686	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000370458;ENST00000286437	T;T;T;T;T	0.61980	0.06;0.06;0.06;0.06;0.06	5.67	4.7	0.59300	.	0.229244	0.38005	N	0.001852	T	0.32823	0.0842	N	0.03930	-0.32	0.31930	N	0.612348	B;B;B;B;B;B;B	0.33583	0.418;0.165;0.165;0.165;0.165;0.198;0.017	B;B;B;B;B;B;B	0.34873	0.191;0.121;0.121;0.121;0.121;0.191;0.023	T	0.31998	-0.9923	10	0.32370	T	0.25	.	3.4715	0.07569	0.0:0.6736:0.0:0.3264	.	39;369;365;365;394;398;365	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816;P51816-4	.;.;.;.;.;AFF2_HUMAN;.	S	398;365;365;365;39	ENSP00000359489:P398S;ENSP00000359486:P365S;ENSP00000345459:P365S;ENSP00000359487:P365S;ENSP00000286437:P39S	ENSP00000286437:P39S	P	+	1	0	AFF2	147732200	1.000000	0.71417	0.978000	0.43139	0.873000	0.50193	2.680000	0.46918	2.374000	0.81015	0.540000	0.68198	CCA		0.348	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		T	147924508	C	T	147924508	3	4	707	1	0	0	0	0	1	0	0	0	357	623	22	2	1269	2	AFF2	23	147924508	Missense_Mutation	SNP	C	TCGA-KL-8338-01A-11D-2310-10		147924508	7346052	47	39446											
ATAD3C	219293	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	1	1391260	1391260	+	Silent	SNP	C	C	T	rs569952968		TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr1:1391260C>T	ENST00000378785.2	+	6	1523	c.528C>T	c.(526-528)taC>taT	p.Y176Y		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	176							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)		TCCTGCTGTACGGGCCACCAG	0.627													c|||	1	0.000199681	0.0008	0.0	5008	,	,		19249	0.0		0.0	False		,,,				2504	0.0															0													79	87	84					1																	1391260		692	1591	2283	SO:0001819	synonymous_variant	219293			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.528C>T	1.37:g.1391260C>T			Q8N1Z5	Silent	SNP	ENST00000378785.2	37	CCDS44039.1																																																																																				0.627	ATAD3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001279.3	NM_001039211		T	1391260	C	T	1391260	2	4	708	1	0	0	0	0	0	0	0	1	1075	547	19	1		1	ATAD3C	1	1391260	Silent	SNP	C	TCGA-KL-8339-01A-11D-2310-10		1391260	247859361	1	39447											
CDK11A	728642	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	1	1647844	1647844	+	Silent	SNP	G	G	A	rs368053496		TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr1:1647844G>A	ENST00000378633.1	-	5	478	c.399C>T	c.(397-399)cgC>cgT	p.R133R	RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000378638.2_Silent_p.R109R|CDK11A_ENST00000356200.3_Silent_p.R109R|CDK11A_ENST00000404249.3_Silent_p.R143R|CDK11A_ENST00000358779.5_Silent_p.R133R|CDK11A_ENST00000357760.2_Silent_p.R133R|CDK11A_ENST00000378635.3_Silent_p.R133R			Q9UQ88	CD11A_HUMAN	cyclin-dependent kinase 11A	133	Glu-rich.				apoptotic process (GO:0006915)|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)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						CCCATTCCCGGCGAGCTTTAT	0.483																																					Pancreas(186;965 2119 30274 40311 50569)											0													227	224	225					1																	1647844		1977	4163	6140	SO:0001819	synonymous_variant	984			AF067522	CCDS44042.1, CCDS44043.1	1p36.33	2011-11-08	2009-12-16	2009-12-16	ENSG00000008128	ENSG00000008128		"Cyclin-dependent kinases"	1730	protein-coding gene	gene with protein product		116951	"cell division cycle 2-like 2", "cell division cycle 2-like 2 (PITSLRE proteins)"	CDC2L3, CDC2L2		7920654, 9750192, 19884882	Standard	NM_033529		Approved	PITSLRE, CDK11-p110, CDK11-p58, CDK11-p46, p58GTA		Q9UQ88	OTTHUMG00000000703	ENST00000378633.1:c.399C>T	1.37:g.1647844G>A			O95227|O95228|O96012|Q12821|Q12853|Q12854|Q2TAJ0|Q5QPR0|Q5QPR1|Q5QPR2|Q9UBC4|Q9UBI3|Q9UEI1|Q9UEI2|Q9UP53|Q9UP54|Q9UP55|Q9UP56|Q9UQ86|Q9UQ87|Q9UQ89	Silent	SNP	ENST00000378633.1	37																																																																																					0.483	CDK11A-005	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000001735.1	NM_024011		A	1647844	G	A	1647844	2	1	708	1	0	0	0	0	0	0	0	1	3128	1190	42	2		2	CDK11A	1	1647844	Silent	SNP	G	TCGA-KL-8339-01A-11D-2310-10	256584	1647844	247602777	2	39448											
HSPG2	3339	ucsc.edu	37	1	22211304	22211304	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr1:22211304A>G	ENST00000374695.3	-	12	1542	c.1463T>C	c.(1462-1464)gTg>gCg	p.V488A		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	488	Ig-like C2-type 1.				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)	AATGCCAAACACCATGCCCCG	0.642																																																0													54	42	46					1																	22211304		2203	4300	6503	SO:0001583	missense	3339			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.1463T>C	1.37:g.22211304A>G	ENSP00000363827:p.Val488Ala		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	A	14.29	2.492182	0.44352	.	.	ENSG00000142798	ENST00000374695	T	0.37752	1.18	5.32	4.18	0.49190	.	0.000000	0.33110	N	0.005264	T	0.42086	0.1187	N	0.21282	0.65	0.52501	D	0.999958	D	0.59357	0.985	D	0.73708	0.981	T	0.25502	-1.0130	10	0.48119	T	0.1	.	9.4212	0.38553	0.9145:0.0:0.0854:0.0	.	488	P98160	PGBM_HUMAN	A	488	ENSP00000363827:V488A	ENSP00000363827:V488A	V	-	2	0	HSPG2	22083891	1.000000	0.71417	1.000000	0.80357	0.083000	0.17756	6.779000	0.75057	0.848000	0.35191	-0.441000	0.05720	GTG		0.642	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		G	22211304	A	G	22211304	3	3	708	1	0	0	0	0	1	0	0	0	7432	159	6	3	12056	3	HSPG2	1	22211304	Missense_Mutation	SNP	A	TCGA-KL-8339-01A-11D-2310-10	20563460	22211304	227039317	3	39449											
RBMXL1	494115	broad.mit.edu;mdanderson.org	37	1	89449440	89449440	+	Missense_Mutation	SNP	G	G	T			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr1:89449440G>T	ENST00000321792.5	-	2	497	c.70C>A	c.(70-72)Ctt>Att	p.L24I	CCBL2_ENST00000260508.4_Intron|RBMXL1_ENST00000399794.2_Missense_Mutation_p.L24I|RBMXL1_ENST00000413769.1_5'UTR|CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000446900.2_Intron	NM_019610.5	NP_062556.2	Q96E39	RMXL1_HUMAN	RNA binding motif protein, X-linked-like 1	24	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)										ACTGTTTCAAGAGCTTTCTCA	0.413											OREG0013593	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													185	184	185					1																	89449440		2203	4300	6503	SO:0001583	missense	494115			BC012942	CCDS716.1	1p22.2	2013-02-12	2007-01-04	2007-01-04	ENSG00000213516	ENSG00000213516		"RNA binding motif (RRM) containing"	25073	protein-coding gene	gene with protein product	"kynurenine aminotransferase III"					10441733	Standard	NM_019610		Approved	KAT3	uc001dms.3	Q96E39	OTTHUMG00000010661	ENST00000321792.5:c.70C>A	1.37:g.89449440G>T	ENSP00000318415:p.Leu24Ile	1267		Missense_Mutation	SNP	ENST00000321792.5	37	CCDS716.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.156042	0.78114	.	.	ENSG00000213516	ENST00000321792;ENST00000399794	T;T	0.37915	1.17;1.17	1.28	1.28	0.21552	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.64402	U	0.000009	T	0.32255	0.0823	L	0.31845	0.965	0.41177	D	0.986203	P	0.44344	0.833	D	0.73380	0.98	T	0.18398	-1.0338	10	0.66056	D	0.02	-1.6719	8.103	0.30868	0.0:0.0:1.0:0.0	.	24	Q96E39	RBMXL_HUMAN	I	24	ENSP00000318415:L24I;ENSP00000446099:L24I	ENSP00000318415:L24I	L	-	1	0	RBMXL1	89222028	1.000000	0.71417	0.821000	0.32701	0.926000	0.56050	2.359000	0.44142	0.693000	0.31634	0.306000	0.20318	CTT		0.413	RBMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029403.3	NM_019610		T	89449440	G	T	89449440	3	4	708	1	0	0	0	0	1	0	0	0	13159	942	33	4	1106	4	RBMXL1	1	89449440	Missense_Mutation	SNP	G	TCGA-KL-8339-01A-11D-2310-10	67238136	89449440	159801181	4	39450											
VAV3	10451	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	1	108303461	108303461	+	Missense_Mutation	SNP	C	C	T	rs139065569		TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr1:108303461C>T	ENST00000370056.4	-	10	1236	c.962G>A	c.(961-963)cGa>cAa	p.R321Q	VAV3_ENST00000371846.4_Missense_Mutation_p.R256Q|VAV3_ENST00000527011.1_Missense_Mutation_p.R321Q|VAV3_ENST00000343258.4_5'UTR	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	321	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		AAGCAAGTCTCGAAGAGTAAA	0.333																																																0								C	GLN/ARG	0,4406		0,0,2203	93	81	85		962	5.7	1	1	dbSNP_134	85	1,8597	1.2+/-3.3	0,1,4298	no	missense	VAV3	NM_006113.4	43	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	321/848	108303461	1,13003	2203	4299	6502	SO:0001583	missense	10451			AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12659	protein-coding gene	gene with protein product		605541	"vav 3 oncogene"				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.962G>A	1.37:g.108303461C>T	ENSP00000359073:p.Arg321Gln		B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Missense_Mutation	SNP	ENST00000370056.4	37	CCDS785.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.5|25.5	4.642639|4.642639	0.87859|0.87859	0.0|0.0	1.16E-4|1.16E-4	ENSG00000134215|ENSG00000134215	ENST00000490388|ENST00000370056;ENST00000527011;ENST00000371846	.|T;T;T	.|0.61980	.|0.06;0.06;0.06	5.66|5.66	5.66|5.66	0.87406|0.87406	.|Guanine-nucleotide dissociation stimulator, CDC24, conserved site (1);Dbl homology (DH) domain (5);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.68081|0.68081	0.2962|0.2962	L|L	0.45581|0.45581	1.43|1.43	0.80722|0.80722	D|D	1|1	.|P;D;D;D	.|0.89917	.|0.873;1.0;0.993;0.993	.|P;D;P;P	.|0.81914	.|0.515;0.995;0.621;0.734	T|T	0.60919|0.60919	-0.7167|-0.7167	5|10	.|0.25106	.|T	.|0.35	.|.	19.7509|19.7509	0.96268|0.96268	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|321;321;256;321	.|B7ZLR1;E9PQ97;B4DHL6;Q9UKW4	.|.;.;.;VAV3_HUMAN	K|Q	316|321;321;256	.|ENSP00000359073:R321Q;ENSP00000432540:R321Q;ENSP00000360912:R256Q	.|ENSP00000359073:R321Q	E|R	-|-	1|2	0|0	VAV3|VAV3	108104984|108104984	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	7.441000|7.441000	0.80485|0.80485	2.664000|2.664000	0.90586|0.90586	0.650000|0.650000	0.86243|0.86243	GAG|CGA		0.333	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2	NM_006113		T	108303461	C	T	108303461	3	4	708	1	0	0	0	0	1	0	0	0	17138	884	31	1	1678	1	VAV3	1	108303461	Missense_Mutation	SNP	C	TCGA-KL-8339-01A-11D-2310-10	18854021	108303461	140947160	5	39451											
CD1A	909	mdanderson.org	37	1	158226667	158226667	+	Silent	SNP	C	C	T	rs1042388	byFrequency	TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr1:158226667C>T	ENST00000289429.5	+	4	1229	c.696C>T	c.(694-696)ccC>ccT	p.P232P		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	232	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)	ACCCAAAGCCCGTGTGGGTGA	0.627													c|||	169	0.033746	0.0129	0.049	5008	,	,		17473	0.0		0.0835	False		,,,				2504	0.0348															0								C		111,4295	84.8+/-123.5	4,103,2096	90	85	86		696	-7.6	0	1	dbSNP_86	86	768,7828	182.8+/-231.1	27,714,3557	no	coding-synonymous	CD1A	NM_001763.2		31,817,5653	TT,TC,CC		8.9344,2.5193,6.7605		232/328	158226667	879,12123	2203	4298	6501	SO:0001819	synonymous_variant	909			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.696C>T	1.37:g.158226667C>T			D3DVD7|Q13962|Q5TDJ8|Q9UMM4|Q9Y5M5	Silent	SNP	ENST00000289429.5	37	CCDS1174.1																																																																																				0.627	CD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046349.2	NM_001763		T	158226667	C	T	158226667	2	4	708	1	0	0	0	0	0	0	0	1	2976	639	23	1		1	CD1A	1	158226667	Silent	SNP	C	TCGA-KL-8339-01A-11D-2310-10	49923206	158226667	91023954	6	39452											
OR10J5	127385	broad.mit.edu	37	1	159504971	159504971	+	Missense_Mutation	SNP	G	G	A	rs149096656	byFrequency	TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr1:159504971G>A	ENST00000334857.2	-	1	871	c.827C>T	c.(826-828)aCg>aTg	p.T276M		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	276						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)					GATGGTGTACGTCACTGAGAG	0.463																																																0								G	MET/THR	0,4406		0,0,2203	90	86	87		827	3.9	1	1	dbSNP_134	87	3,8597	3.0+/-9.4	0,3,4297	yes	missense	OR10J5	NM_001004469.1	81	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging	276/310	159504971	3,13003	2203	4300	6503	SO:0001583	missense	127385				CCDS30910.1	1q23.2	2012-08-09			ENSG00000184155	ENSG00000184155		"GPCR / Class A : Olfactory receptors"	14993	protein-coding gene	gene with protein product							Standard	NM_001004469		Approved		uc010piw.2	Q8NHC4	OTTHUMG00000022738	ENST00000334857.2:c.827C>T	1.37:g.159504971G>A	ENSP00000334441:p.Thr276Met		B9EH35|Q6IFH2	Missense_Mutation	SNP	ENST00000334857.2	37	CCDS30910.1	.	.	.	.	.	.	.	.	.	.	G	9.539	1.112783	0.20795	0.0	3.49E-4	ENSG00000184155	ENST00000334857	T	0.00058	8.79	3.94	3.94	0.45596	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00073	0.0002	N	0.12527	0.23	0.28773	N	0.900281	D	0.71674	0.998	D	0.66497	0.944	T	0.43163	-0.9408	9	0.40728	T	0.16	.	7.6339	0.28255	0.116:0.0:0.884:0.0	.	276	Q8NHC4	O10J5_HUMAN	M	276	ENSP00000334441:T276M	ENSP00000334441:T276M	T	-	2	0	OR10J5	157771595	0.077000	0.21312	0.996000	0.52242	0.006000	0.05464	3.109000	0.50345	2.178000	0.69098	0.491000	0.48974	ACG		0.463	OR10J5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059021.1	NM_001004469		A	159504971	G	A	159504971	3	1	708	1	0	0	0	0	1	0	0	0	10914	1145	40	1	104	1	OR10J5	1	159504971	Missense_Mutation	SNP	G	TCGA-KL-8339-01A-11D-2310-10	1278304	159504971	89745650	7	39453											
TEDDM1	127670	bcgsc.ca	37	1	182368966	182368966	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr1:182368966A>G	ENST00000367565.1	-	1	785	c.655T>C	c.(655-657)Ttc>Ctc	p.F219L		NM_172000.3	NP_741997.3	Q5T9Z0	TEDM1_HUMAN	transmembrane epididymal protein 1	219						integral component of membrane (GO:0016021)				haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)	7						AAGGAAGAGAAGCCATAGATT	0.478																																																0													85	76	79					1																	182368966		2203	4300	6503	SO:0001583	missense	127670			AJ515384	CCDS30953.1	1q25.3	2009-09-17		2005-08-09	ENSG00000203730	ENSG00000203730			30233	protein-coding gene	gene with protein product	"putative membrane protein HE9", "transmembrane protein 45C", "epididymal protein 9"						Standard	NM_172000		Approved	HE9, Epdd1, TMEM45C, EDDM9	uc001gpe.3	Q5T9Z0	OTTHUMG00000037398	ENST00000367565.1:c.655T>C	1.37:g.182368966A>G	ENSP00000356536:p.Phe219Leu		Q8IVJ0	Missense_Mutation	SNP	ENST00000367565.1	37	CCDS30953.1	.	.	.	.	.	.	.	.	.	.	A	10.29	1.310316	0.23821	.	.	ENSG00000203730	ENST00000367565	T	0.39787	1.06	4.73	-3.63	0.04529	.	1.234140	0.05592	N	0.574800	T	0.14700	0.0355	N	0.03983	-0.305	0.09310	N	1	B	0.22480	0.07	B	0.23419	0.046	T	0.20940	-1.0260	10	0.02654	T	1	-19.7017	4.4093	0.11425	0.2002:0.5281:0.1634:0.1084	.	219	Q5T9Z0	TEDM1_HUMAN	L	219	ENSP00000356536:F219L	ENSP00000356536:F219L	F	-	1	0	TEDDM1	180635589	0.000000	0.05858	0.001000	0.08648	0.873000	0.50193	-2.654000	0.00855	-0.929000	0.03757	0.460000	0.39030	TTC		0.478	TEDDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091029.1	NM_172000		G	182368966	A	G	182368966	3	3	708	1	0	0	0	0	1	0	0	0	15754	72	3	3	170	3	TEDDM1	1	182368966	Missense_Mutation	SNP	A	TCGA-KL-8339-01A-11D-2310-10	22863995	182368966	66881655	8	39454											
KCNF1	3754	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	2	11053758	11053758	+	Silent	SNP	C	C	T			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr2:11053758C>T	ENST00000295082.1	+	1	1696	c.1206C>T	c.(1204-1206)atC>atT	p.I402I		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	402					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		CCCTGCCCATCCACCCCATCA	0.597																																																0													148	112	124					2																	11053758		2203	4300	6503	SO:0001819	synonymous_variant	3754			AF033382	CCDS1676.1	2p25	2011-07-05			ENSG00000162975	ENSG00000162975		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6246	protein-coding gene	gene with protein product		603787		KCNF		9434767, 16382104	Standard	NM_002236		Approved	Kv5.1, kH1, IK8	uc002rax.3	Q9H3M0	OTTHUMG00000119054	ENST00000295082.1:c.1206C>T	2.37:g.11053758C>T			O43527|Q585L3	Silent	SNP	ENST00000295082.1	37	CCDS1676.1																																																																																				0.597	KCNF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239265.1	NM_002236		T	11053758	C	T	11053758	2	4	708	1	0	0	0	0	0	0	0	1	8028	845	30	2		2	KCNF1	2	11053758	Silent	SNP	C	TCGA-KL-8339-01A-11D-2310-10		11053758	232145615	9	39455											
HS6ST1	9394	broad.mit.edu;mdanderson.org	37	2	129025737	129025737	+	Nonstop_Mutation	SNP	T	T	A			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr2:129025737T>A	ENST00000259241.6	-	2	1248	c.1235A>T	c.(1234-1236)tAg>tTg	p.*412L		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	0					angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|labyrinthine layer blood vessel development (GO:0060716)|lung alveolus development (GO:0048286)|neuron development (GO:0048666)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)|sulfotransferase activity (GO:0008146)			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		CCACCGCCACTACCACTTCTC	0.642																																																0													8	9	8					2																	129025737		1828	3965	5793	SO:0001578	stop_lost	9394			AB006179	CCDS42748.1	2q21	2010-03-19		2002-08-23	ENSG00000136720	ENSG00000136720		"Sulfotransferases, membrane-bound"	5201	protein-coding gene	gene with protein product		604846		HS6ST		9535912	Standard	NM_004807		Approved		uc002tpt.4	O60243	OTTHUMG00000153542	ENST00000259241.6:c.1235A>T	2.37:g.129025737T>A			B4DEP2|B4DJ29|Q53SL2|Q9BVI1	Missense_Mutation	SNP	ENST00000259241.6	37	CCDS42748.1	.	.	.	.	.	.	.	.	.	.	T	15.36	2.810086	0.50421	.	.	ENSG00000136720	ENST00000259241	.	.	.	4.19	4.19	0.49359	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5576	0.61768	0.0:0.0:0.0:1.0	.	.	.	.	L	412	.	.	X	-	2	0	HS6ST1	128742207	1.000000	0.71417	0.998000	0.56505	0.915000	0.54546	3.892000	0.56235	1.671000	0.50874	0.260000	0.18958	TAG		0.642	HS6ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331572.1	NM_004807		A	129025737	T	A	129025737	4	1	708	1	0	0	0	0	0	0	0	0	7372	1535	53	5	4	5	HS6ST1	2	129025737	Nonstop_Mutation	SNP	T	TCGA-KL-8339-01A-11D-2310-10	117971979	129025737	114173636	10	39456			1	75		2	2	22	N	T_C	6.647769e-05
HS6ST1	9394	mdanderson.org	37	2	129025758	129025758	+	Missense_Mutation	SNP	C	C	A	rs142919429		TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr2:129025758C>A	ENST00000259241.6	-	2	1227	c.1214G>T	c.(1213-1215)aGc>aTc	p.S405I		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	405					angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|labyrinthine layer blood vessel development (GO:0060716)|lung alveolus development (GO:0048286)|neuron development (GO:0048666)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)|sulfotransferase activity (GO:0008146)			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		AATGATGTGGCTCATGTAGTC	0.662																																																0													10	11	11					2																	129025758		1890	4033	5923	SO:0001583	missense	9394			AB006179	CCDS42748.1	2q21	2010-03-19		2002-08-23	ENSG00000136720	ENSG00000136720		"Sulfotransferases, membrane-bound"	5201	protein-coding gene	gene with protein product		604846		HS6ST		9535912	Standard	NM_004807		Approved		uc002tpt.4	O60243	OTTHUMG00000153542	ENST00000259241.6:c.1214G>T	2.37:g.129025758C>A	ENSP00000259241:p.Ser405Ile		B4DEP2|B4DJ29|Q53SL2|Q9BVI1	Missense_Mutation	SNP	ENST00000259241.6	37	CCDS42748.1	335	0.1533882783882784	57	0.11585365853658537	66	0.18232044198895028	83	0.1451048951048951	129	0.17018469656992086	C	14.89	2.670501	0.47781	.	.	ENSG00000136720	ENST00000259241	D	0.84223	-1.82	4.19	4.19	0.49359	.	0.086180	0.85682	D	0.000000	T	0.00580	0.0019	L	0.56769	1.78	0.22171	P	0.999317387	P	0.44578	0.838	B	0.35413	0.202	T	0.34650	-0.9820	8	.	.	.	-0.0214	16.8907	0.86086	0.0:1.0:0.0:0.0	.	405	O60243	H6ST1_HUMAN	I	405	ENSP00000259241:S405I	.	S	-	2	0	HS6ST1	128742228	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	3.206000	0.51098	2.054000	0.61138	0.313000	0.20887	AGC		0.662	HS6ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331572.1	NM_004807		A	129025758	C	A	129025758	3	1	708	1	0	0	0	0	1	0	0	0	7372	797	28	4	25	4	HS6ST1	2	129025758	Missense_Mutation	SNP	C	TCGA-KL-8339-01A-11D-2310-10	21	129025758	114173615	11	39457			1	75		2	2	22	N	T_C	6.647769e-05
RUFY4	285180	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	218940146	218940146	+	Missense_Mutation	SNP	G	G	C			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr2:218940146G>C	ENST00000344321.7	+	9	1449	c.931G>C	c.(931-933)Ggg>Cgg	p.G311R	RUFY4_ENST00000374155.3_Missense_Mutation_p.G331R|RUFY4_ENST00000463872.1_3'UTR|RUFY4_ENST00000441828.2_3'UTR	NM_198483.3	NP_940885.2	Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4	311							metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GGAGGTGATAGGGATGGAGGC	0.572																																																0													36	36	36					2																	218940146		2016	4185	6201	SO:0001583	missense	285180			AK128393		2q35	2007-01-29			ENSG00000188282	ENSG00000188282		"Zinc fingers, FYVE domain containing"	24804	protein-coding gene	gene with protein product							Standard	NM_198483		Approved	FLJ46536	uc010fvl.2	Q6ZNE9	OTTHUMG00000155235	ENST00000344321.7:c.931G>C	2.37:g.218940146G>C	ENSP00000345900:p.Gly311Arg		Q6ZR96	Missense_Mutation	SNP	ENST00000344321.7	37		.	.	.	.	.	.	.	.	.	.	G	15.50	2.852055	0.51270	.	.	ENSG00000188282	ENST00000344321;ENST00000374155	T;T	0.52754	1.36;0.65	4.46	-0.99	0.10238	.	0.730338	0.12322	N	0.479218	T	0.26268	0.0641	L	0.29908	0.895	0.09310	N	1	B	0.25235	0.121	B	0.17722	0.019	T	0.15636	-1.0430	10	0.19590	T	0.45	-3.477	3.3551	0.07167	0.4335:0.0:0.3818:0.1847	.	311	Q6ZNE9	RUFY4_HUMAN	R	311;331	ENSP00000345900:G311R;ENSP00000363270:G331R	ENSP00000345900:G311R	G	+	1	0	RUFY4	218648391	0.004000	0.15560	0.000000	0.03702	0.228000	0.25075	1.215000	0.32431	-0.083000	0.12618	0.467000	0.42956	GGG		0.572	RUFY4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_198483		C	218940146	G	C	218940146	3	2	708	1	0	0	0	0	1	0	0	0	13747	1000	35	4	957	4	RUFY4	2	218940146	Missense_Mutation	SNP	G	TCGA-KL-8339-01A-11D-2310-10	89914388	218940146	24259227	12	39458											
HES6	55502	hgsc.bcm.edu;ucsc.edu	37	2	239147555	239147555	+	Silent	SNP	A	A	G			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr2:239147555A>G	ENST00000272937.5	-	4	806	c.588T>C	c.(586-588)gcT>gcC	p.A196A	AC096574.4_ENST00000456601.1_RNA|HES6_ENST00000409160.3_3'UTR|HES6_ENST00000409574.1_3'UTR|HES6_ENST00000409182.1_Silent_p.A167A|HES6_ENST00000409002.3_Silent_p.A194A					hes family bHLH transcription factor 6											lung(1)|skin(1)	2		Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.23e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.29e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.19e-08)|BRCA - Breast invasive adenocarcinoma(100;5.98e-05)|Lung(119;0.0086)|LUSC - Lung squamous cell carcinoma(224;0.0148)		CCTCAGCAGGAGCCTGACTCA	0.692																																																0													7	8	8					2																	239147555		2167	4256	6423	SO:0001819	synonymous_variant	55502			AB035179	CCDS2527.1, CCDS46556.1, CCDS63180.1	2q37.3	2013-10-17	2013-10-17		ENSG00000144485	ENSG00000144485		"Basic helix-loop-helix proteins"	18254	protein-coding gene	gene with protein product		610331	"hairy and enhancer of split 6 (Drosophila)"			10851137	Standard	XM_005246095		Approved	bHLHb41	uc002vxz.3	Q96HZ4	OTTHUMG00000133340	ENST00000272937.5:c.588T>C	2.37:g.239147555A>G				Silent	SNP	ENST00000272937.5	37	CCDS2527.1																																																																																				0.692	HES6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257170.2	NM_018645		G	239147555	A	G	239147555	2	3	708	1	0	0	0	0	0	0	0	1	7072	291	11	3		3	HES6	2	239147555	Silent	SNP	A	TCGA-KL-8339-01A-11D-2310-10	20207409	239147555	4051818	13	39459											
EOMES	8320	broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	27763289	27763289	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr3:27763289T>C	ENST00000295743.4	-	1	700	c.497A>G	c.(496-498)cAg>cGg	p.Q166R	EOMES_ENST00000537516.1_Intron|EOMES_ENST00000449599.1_Missense_Mutation_p.Q166R|EOMES_ENST00000461503.1_Intron			O95936	EOMES_HUMAN	eomesodermin	166					brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell differentiation involved in embryonic placenta development (GO:0060706)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|endoderm formation (GO:0001706)|endodermal cell fate specification (GO:0001714)|interferon-gamma production (GO:0032609)|mesoderm formation (GO:0001707)|mesodermal to mesenchymal transition involved in gastrulation (GO:0060809)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|olfactory bulb development (GO:0021772)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|skeletal muscle cell differentiation (GO:0035914)|stem cell maintenance (GO:0019827)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						AGCCGCCGCCTGGTACGGGAA	0.721																																																0													4	6	5					3																	27763289		2019	4107	6126	SO:0001583	missense	8320			BC025363	CCDS2646.1, CCDS63585.1	3p24.1	2011-06-13	2010-06-24		ENSG00000163508	ENSG00000163508		"T-boxes"	3372	protein-coding gene	gene with protein product	"T-box brain2"	604615	"eomesodermin (Xenopus laevis) homolog"			9888994, 9434949	Standard	NM_005442		Approved	TBR2	uc003cdy.4	O95936	OTTHUMG00000130570	ENST00000295743.4:c.497A>G	3.37:g.27763289T>C	ENSP00000295743:p.Gln166Arg		B7Z4I2|B7ZA51|G3XAI5|Q8TAZ2|Q9UPM7	Missense_Mutation	SNP	ENST00000295743.4	37	CCDS2646.1	.	.	.	.	.	.	.	.	.	.	T	12.73	2.026049	0.35701	.	.	ENSG00000163508	ENST00000295743;ENST00000449599;ENST00000535713	D;D	0.85013	-1.93;-1.93	4.11	-0.0134	0.13984	.	1.268390	0.05332	N	0.528499	T	0.69351	0.3101	N	0.08118	0	0.80722	D	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.08055	0.003;0.001;0.0	T	0.58589	-0.7610	10	0.42905	T	0.14	.	4.5502	0.12108	0.0:0.1166:0.426:0.4574	.	166;166;166	F5H3K1;G3XAI5;O95936	.;.;EOMES_HUMAN	R	166;166;31	ENSP00000295743:Q166R;ENSP00000388620:Q166R	ENSP00000295743:Q166R	Q	-	2	0	EOMES	27738293	1.000000	0.71417	0.973000	0.42090	0.978000	0.69477	1.439000	0.35013	0.225000	0.20959	0.379000	0.24179	CAG		0.721	EOMES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252995.1	NM_005442		C	27763289	T	C	27763289	3	2	708	1	0	0	0	0	1	0	0	0	5149	1580	55	3	1587	3	EOMES	3	27763289	Missense_Mutation	SNP	T	TCGA-KL-8339-01A-11D-2310-10		27763289	170259141	14	39460											
SCN10A	6336	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	3	38739683	38739683	+	Silent	SNP	G	G	T			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr3:38739683G>T	ENST00000449082.2	-	27	5027	c.5028C>A	c.(5026-5028)ccC>ccA	p.P1676P		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1676					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.Y1677fs*21(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)	GGTCACAGTAGGGGGGCCCTG	0.592																																																1	Deletion - Frameshift(1)	pancreas(1)											70	74	72					3																	38739683		2203	4300	6503	SO:0001819	synonymous_variant	6336			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.5028C>A	3.37:g.38739683G>T			A6NDQ1	Silent	SNP	ENST00000449082.2	37	CCDS33736.1																																																																																				0.592	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		T	38739683	G	T	38739683	2	4	708	1	0	0	0	0	0	0	0	1	13918	987	35	4		4	SCN10A	3	38739683	Silent	SNP	G	TCGA-KL-8339-01A-11D-2310-10	10976394	38739683	159282747	15	39461											
PRSS45	29122	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	3	46784475	46784475	+	Intron	SNP	G	G	T			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr3:46784475G>T	ENST00000460241.1	-	4	1129				PRSS45_ENST00000442359.2_Missense_Mutation_p.F127L			Q9UI38	TSP50_HUMAN	protease, serine, 50						proteolysis (GO:0006508)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	serine-type endopeptidase activity (GO:0004252)|threonine-type endopeptidase activity (GO:0004298)			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						CTGGGGGGAAGAAGGACTTCT	0.532																																					Pancreas(41;915 1239 11561 17469)											0													71	78	75					3																	46784475		2069	4212	6281	SO:0001627	intron_variant	377047			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.541+5639C>A	3.37:g.46784475G>T				Missense_Mutation	SNP	ENST00000460241.1	37	CCDS2745.1	.	.	.	.	.	.	.	.	.	.	G	6.913	0.538018	0.13188	.	.	ENSG00000188086	ENST00000331814;ENST00000442359	D	0.88431	-2.38	4.82	0.879	0.19155	.	2.205680	0.01770	N	0.031130	T	0.77177	0.4092	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.65561	-0.6138	9	0.10111	T	0.7	.	4.9752	0.14136	0.1879:0.3344:0.4777:0.0	.	127	Q7RTY3-2	.	L	159;127	ENSP00000401932:F127L	ENSP00000330940:F159L	F	-	3	2	PRSS45	46759479	0.000000	0.05858	0.000000	0.03702	0.075000	0.17131	0.091000	0.15046	0.304000	0.22809	0.655000	0.94253	TTC		0.532	PRSS50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354544.1			T	46784475	G	T	46784475	1	4	708	0	1	0	0	0	0	0	0	0	12634	933	33	4		4	PRSS45	3	46784475	Intron	SNP	G	TCGA-KL-8339-01A-11D-2310-10	8044792	46784475	151237955	16	39462											
AMIGO3	29925	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	3	49755708	49755708	+	3'UTR	SNP	G	G	A			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr3:49755708G>A	ENST00000480687.1	-	0	4676				AMIGO3_ENST00000535833.1_Silent_p.L397L|RNF123_ENST00000327697.6_Intron|AMIGO3_ENST00000320431.7_Silent_p.L397L|RNF123_ENST00000433785.1_Intron|RNF123_ENST00000497099.1_Intron			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B						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)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|mannose-1-phosphate guanylyltransferase activity (GO:0004475)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AGAGCAGCACGAGCACAAGGC	0.682																																																0													51	51	51					3																	49755708		2203	4300	6503	SO:0001624	3_prime_UTR_variant	386724			AF135421	CCDS2802.1, CCDS2803.1	3p21.31	2008-02-05			ENSG00000173540	ENSG00000173540	2.7.7.22		22932	protein-coding gene	gene with protein product		615320					Standard	NM_013334		Approved	KIAA1851	uc003cxl.1	Q9Y5P6	OTTHUMG00000158151	ENST00000480687.1:c.*3477C>T	3.37:g.49755708G>A			A8K6N5|Q9H7U3	Silent	SNP	ENST00000480687.1	37	CCDS2803.1																																																																																				0.682	GMPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350291.1	NM_013334		A	49755708	G	A	49755708	1	1	708	0	1	0	0	0	0	0	0	0	577	1045	37	1		1	AMIGO3	3	49755708	3'UTR	SNP	G	TCGA-KL-8339-01A-11D-2310-10	2971233	49755708	148266722	17	39463											
SPCS1	28972	mdanderson.org	37	3	52741725	52741725	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr3:52741725T>C	ENST00000602728.1	+	4	375	c.206T>C	c.(205-207)aTc>aCc	p.I69T	GLT8D1_ENST00000266014.5_5'Flank|GLT8D1_ENST00000478968.2_5'Flank|SPCS1_ENST00000233025.7_Missense_Mutation_p.I136T|SPCS1_ENST00000423431.1_Missense_Mutation_p.I47T|GLT8D1_ENST00000407584.3_5'Flank|GLT8D1_ENST00000491606.1_5'Flank			Q9Y6A9	SPCS1_HUMAN	signal peptidase complex subunit 1 homolog (S. cerevisiae)	69					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|proteolysis (GO:0006508)|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 endoplasmic reticulum membrane (GO:0030176)|signal peptidase complex (GO:0005787)	peptidase activity (GO:0008233)			kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6				BRCA - Breast invasive adenocarcinoma(193;6.51e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)|OV - Ovarian serous cystadenocarcinoma(275;0.0469)		CCATGGCCCATCTATCGCCGG	0.403																																																0													102	105	104					3																	52741725		2203	4300	6503	SO:0001583	missense	28972			AF092138	CCDS33769.2	3p21.31	2005-01-05			ENSG00000114902	ENSG00000114902			23401	protein-coding gene	gene with protein product		610358				8632014	Standard	NM_014041		Approved	SPC12, HSPC033, YJR010C-A, SPC1	uc011bei.2	Q9Y6A9	OTTHUMG00000154930	ENST00000602728.1:c.206T>C	3.37:g.52741725T>C	ENSP00000473265:p.Ile69Thr		B3KNF8|Q9BVW1	Missense_Mutation	SNP	ENST00000602728.1	37		.	.	.	.	.	.	.	.	.	.	T	24.7	4.561854	0.86335	.	.	ENSG00000114902	ENST00000423431;ENST00000233025	T;T	0.80653	-1.4;-1.4	5.57	5.57	0.84162	.	0.042790	0.85682	D	0.000000	D	0.85057	0.5610	L	0.58510	1.815	0.46478	D	0.999061	P	0.52692	0.955	P	0.54759	0.76	D	0.86672	0.1911	10	0.72032	D	0.01	-36.8309	15.7316	0.77810	0.0:0.0:0.0:1.0	.	136	Q9Y6A9	SPCS1_HUMAN	T	47;136	ENSP00000391610:I47T;ENSP00000233025:I136T	ENSP00000233025:I136T	I	+	2	0	SPCS1	52716765	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.169000	0.77578	2.109000	0.64355	0.482000	0.46254	ATC		0.403	SPCS1-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467759.1	NM_014041		C	52741725	T	C	52741725	3	2	708	1	0	0	0	0	1	0	0	0	15028	1435	50	3	421	3	SPCS1	3	52741725	Missense_Mutation	SNP	T	TCGA-KL-8339-01A-11D-2310-10	2986017	52741725	145280705	18	39464											
PDZRN3	23024	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	3	73657758	73657758	+	Silent	SNP	C	C	G			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr3:73657758C>G	ENST00000263666.4	-	2	915	c.801G>C	c.(799-801)cgG>cgC	p.R267R	PDZRN3_ENST00000308537.4_Silent_p.R267R	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	267	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				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)		CCACACTCGGCCGGCCACCAA	0.473																																																0													52	53	53					3																	73657758		2203	4300	6503	SO:0001819	synonymous_variant	23024			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.801G>C	3.37:g.73657758C>G			A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Silent	SNP	ENST00000263666.4	37	CCDS33789.1																																																																																				0.473	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		G	73657758	C	G	73657758	2	3	708	1	0	0	0	0	0	0	0	1	11711	726	26	4		4	PDZRN3	3	73657758	Silent	SNP	C	TCGA-KL-8339-01A-11D-2310-10	20916033	73657758	124364672	19	39465											
ROBO1	6091	hgsc.bcm.edu;ucsc.edu	37	3	78735005	78735005	+	Silent	SNP	G	G	A	rs80267939	byFrequency	TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr3:78735005G>A	ENST00000464233.1	-	10	1346	c.1233C>T	c.(1231-1233)ggC>ggT	p.G411G	ROBO1_ENST00000436010.2_Silent_p.G372G|ROBO1_ENST00000467549.1_Silent_p.G375G|ROBO1_ENST00000495273.1_Silent_p.G375G	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	411	Ig-like C2-type 4.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TTGTGAGGTCGCCAGTCTGGG	0.408													G|||	9	0.00179712	0.0061	0.0014	5008	,	,		16783	0.0		0.0	False		,,,				2504	0.0															0								G	,,	9,3839		0,9,1915	59	59	59		1125,1233,1125	-4.1	1	3	dbSNP_132	59	1,8215		0,1,4107	no	coding-synonymous,coding-synonymous,coding-synonymous	ROBO1	NM_001145845.1,NM_002941.3,NM_133631.3	,,	0,10,6022	AA,AG,GG		0.0122,0.2339,0.0829	,,	375/1552,411/1652,375/1607	78735005	10,12054	1924	4108	6032	SO:0001819	synonymous_variant	6091			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10249	protein-coding gene	gene with protein product		602430	"roundabout (axon guidance receptor, Drosophila) homolog 1"			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.1233C>T	3.37:g.78735005G>A			B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Silent	SNP	ENST00000464233.1	37	CCDS54611.1																																																																																				0.408	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		A	78735005	G	A	78735005	2	1	708	1	0	0	0	0	0	0	0	1	13519	1074	38	1		1	ROBO1	3	78735005	Silent	SNP	G	TCGA-KL-8339-01A-11D-2310-10	5077247	78735005	119287425	20	39466											
PLXND1	23129	broad.mit.edu	37	3	129290413	129290414	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr3:129290413_129290414insC	ENST00000324093.4	-	17	3452_3453	c.3274_3275insG	c.(3274-3276)gagfs	p.E1092fs	PLXND1_ENST00000393239.1_Frame_Shift_Ins_p.E1092fs	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1092	IPT/TIG 3.				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						GTGGAAACGCTCACCAGCCACT	0.658																																					Ovarian(97;366 1484 3738 22084 39045)											0																																										SO:0001589	frameshift_variant	23129			AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"Plexins"	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.3275dupG	3.37:g.129290414_129290414dupC	ENSP00000317128:p.Glu1092fs		A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Frame_Shift_Ins	INS	ENST00000324093.4	37	CCDS33854.1																																																																																				0.658	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		C	129290414	-	C	129290413	7	5	708	1	0	1	1	0	0	0	0	0	12129	1551	54	0	2582	0	PLXND1	3	129290413	Frame_Shift_Ins	INS	-	TCGA-KL-8339-01A-11D-2310-10	50555408	129290413	68732017	21	39467											
COL6A5	256076	mdanderson.org	37	3	130113788	130113788	+	Silent	SNP	A	A	G			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr3:130113788A>G	ENST00000432398.2	+	8	3542	c.3048A>G	c.(3046-3048)gtA>gtG	p.V1016V	COL6A5_ENST00000265379.6_Silent_p.V1016V	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	1016	Nonhelical region.|VWFA 6. {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						CTGACAGGGTATCTAATTCAG	0.348																																																0													85	72	76					3																	130113788		692	1591	2283	SO:0001819	synonymous_variant	256076			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"Collagens"	26674	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 4"	611916	"collagen, type XXIX, alpha 1"	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.3048A>G	3.37:g.130113788A>G			A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Silent	SNP	ENST00000432398.2	37																																																																																					0.348	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264		G	130113788	A	G	130113788	2	3	708	1	0	0	0	0	0	0	0	1	3704	436	16	3		3	COL6A5	3	130113788	Silent	SNP	A	TCGA-KL-8339-01A-11D-2310-10	823375	130113788	67908642	22	39468											
FAM194A	131831	broad.mit.edu	37	3	150421548	150421548	+	Silent	SNP	T	T	C			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr3:150421548T>C	ENST00000295910.6	-	1	190	c.138A>G	c.(136-138)gaA>gaG	p.E46E	RP11-103G8.2_ENST00000471093.1_RNA|RP11-103G8.2_ENST00000475393.1_RNA|FAM194A_ENST00000491361.1_Intron	NM_152394.3	NP_689607.2												p.E46E(1)		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						cctccacctcttcctcctcct	0.607																																																1	Substitution - coding silent(1)	endometrium(1)											121	108	112					3																	150421548		2202	4300	6502	SO:0001819	synonymous_variant	131831																														ENST00000295910.6:c.138A>G	3.37:g.150421548T>C				Silent	SNP	ENST00000295910.6	37	CCDS3151.2																																																																																				0.607	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257666.1			C	150421548	T	C	150421548	2	2	708	1	0	0	0	0	0	0	0	1	5528	1606	56	3		3	FAM194A	3	150421548	Silent	SNP	T	TCGA-KL-8339-01A-11D-2310-10	20307760	150421548	47600882	23	39469											
SI	6476	bcgsc.ca	37	3	164776870	164776870	+	Splice_Site	SNP	C	C	A			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr3:164776870C>A	ENST00000264382.3	-	12	1341	c.1279G>T	c.(1279-1281)Gac>Tac	p.D427Y		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	427	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)	ATTGCAGGGTCCTAATAATAG	0.358										HNSCC(35;0.089)																																						0													81	72	75					3																	164776870		2203	4299	6502	SO:0001630	splice_region_variant	6476			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"Oligosaccharide alpha-1,6-glucosidase"	609845	"sucrase-isomaltase"			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.1279-1G>T	3.37:g.164776870C>A			A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.920302	0.73098	.	.	ENSG00000090402	ENST00000264382	D	0.92752	-3.1	5.57	5.57	0.84162	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.98160	0.9392	H	0.99545	4.62	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99709	1.1006	10	0.87932	D	0	.	18.5358	0.91010	0.0:1.0:0.0:0.0	.	427	P14410	SUIS_HUMAN	Y	427	ENSP00000264382:D427Y	ENSP00000264382:D427Y	D	-	1	0	SI	166259564	1.000000	0.71417	1.000000	0.80357	0.539000	0.34962	5.184000	0.65070	2.612000	0.88384	0.650000	0.86243	GAC		0.358	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041	Missense_Mutation	A	164776870	C	A	164776870	5	1	708	1	0	0	0	0	0	0	1	0	14303	869	30	4	4352	4	SI	3	164776870	Splice_Site	SNP	C	TCGA-KL-8339-01A-11D-2310-10	14355322	164776870	33245560	24	39470											
HTRA3	94031	mdanderson.org	37	4	8294059	8294059	+	Silent	SNP	C	C	T			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr4:8294059C>T	ENST00000307358.2	+	5	1119	c.915C>T	c.(913-915)tcC>tcT	p.S305S	HTRA3_ENST00000382512.3_Silent_p.S305S	NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN	HtrA serine peptidase 3	305	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						ACGGGAACTCCGGGGGACCAC	0.582																																																0													99	86	90					4																	8294059		2203	4300	6503	SO:0001819	synonymous_variant	94031			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.915C>T	4.37:g.8294059C>T			Q7Z7A2	Silent	SNP	ENST00000307358.2	37	CCDS3400.1																																																																																				0.582	HTRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092669.1	NM_053044		T	8294059	C	T	8294059	2	4	708	1	0	0	0	0	0	0	0	1	7457	639	23	1		1	HTRA3	4	8294059	Silent	SNP	C	TCGA-KL-8339-01A-11D-2310-10		8294059	182860217	25	39471											
KCTD8	386617	broad.mit.edu	37	4	44177044	44177044	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr4:44177044delT	ENST00000360029.3	-	2	1468	c.1185delA	c.(1183-1185)aaafs	p.K395fs		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	395					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						GTACAGGTGCTTTTTTAGAGG	0.502										HNSCC(17;0.042)																																						0													173	176	175					4																	44177044		2203	4300	6503	SO:0001589	frameshift_variant	386617			AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 8"				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.1185delA	4.37:g.44177044delT	ENSP00000353129:p.Lys395fs		A2RU39	Frame_Shift_Del	DEL	ENST00000360029.3	37	CCDS3467.1																																																																																				0.502	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216868.1			-	44177044	T	-	44177044	7	5	708	1	0	1	0	1	0	0	0	0	8117	1606	56	0	240	0	KCTD8	4	44177044	Frame_Shift_Del	DEL	T	TCGA-KL-8339-01A-11D-2310-10	35882985	44177044	146977232	26	39472											
KCTD8	386617	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	4	44177218	44177218	+	Missense_Mutation	SNP	T	T	G			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr4:44177218T>G	ENST00000360029.3	-	2	1294	c.1011A>C	c.(1009-1011)aaA>aaC	p.K337N		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	337					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						CTTTGTCATGTTTCCTATCTT	0.408										HNSCC(17;0.042)																																						0													119	112	115					4																	44177218		2203	4300	6503	SO:0001583	missense	386617			AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 8"				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.1011A>C	4.37:g.44177218T>G	ENSP00000353129:p.Lys337Asn		A2RU39	Missense_Mutation	SNP	ENST00000360029.3	37	CCDS3467.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.27|15.27	2.783160|2.783160	0.49891|0.49891	.|.	.|.	ENSG00000183783|ENSG00000183783	ENST00000360029|ENST00000515268	T|.	0.39997|.	1.05|.	4.65|4.65	1.02|1.02	0.19986|0.19986	.|.	0.000000|.	0.51477|.	D|.	0.000081|.	T|T	0.31482|0.31482	0.0798|0.0798	N|N	0.19112|0.19112	0.55|0.55	0.32695|0.32695	N|N	0.513629|0.513629	B|.	0.10296|.	0.003|.	B|.	0.06405|.	0.002|.	T|T	0.39840|0.39840	-0.9594|-0.9594	10|5	0.66056|.	D|.	0.02|.	.|.	7.0943|7.0943	0.25301|0.25301	0.0:0.3611:0.0:0.6389|0.0:0.3611:0.0:0.6389	.|.	337|.	Q6ZWB6|.	KCTD8_HUMAN|.	N|T	337|73	ENSP00000353129:K337N|.	ENSP00000353129:K337N|.	K|N	-|-	3|2	2|0	KCTD8|KCTD8	43871975|43871975	0.996000|0.996000	0.38824|0.38824	0.917000|0.917000	0.36280|0.36280	0.937000|0.937000	0.57800|0.57800	0.277000|0.277000	0.18734|0.18734	0.388000|0.388000	0.25054|0.25054	0.477000|0.477000	0.44152|0.44152	AAA|AAC		0.408	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216868.1			G	44177218	T	G	44177218	3	3	708	1	0	0	0	0	1	0	0	0	8117	1722	60	5	414	5	KCTD8	4	44177218	Missense_Mutation	SNP	T	TCGA-KL-8339-01A-11D-2310-10	174	44177218	146977058	27	39473											
CLOCK	9575	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	4	56319289	56319289	+	Nonsense_Mutation	SNP	C	C	A	rs1056478		TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr4:56319289C>A	ENST00000309964.4	-	14	1388	c.1138G>T	c.(1138-1140)Gaa>Taa	p.E380*	CLOCK_ENST00000513440.1_Nonsense_Mutation_p.E380*|CLOCK_ENST00000381322.1_Nonsense_Mutation_p.E380*	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	380	Interaction with NR3C1. {ECO:0000250|UniProtKB:O08785}.		E -> K (in dbSNP:rs1056478).		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)			GCCCTAACTTCTGCATAACTA	0.338																																																0													78	75	76					4																	56319289		2203	4300	6503	SO:0001587	stop_gained	9575			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.1138G>T	4.37:g.56319289C>A	ENSP00000308741:p.Glu380*		A0AV01|A2I2N9|O14516|Q9UIT8	Nonsense_Mutation	SNP	ENST00000309964.4	37	CCDS3500.1	.	.	.	.	.	.	.	.	.	.	C	43	10.219861	0.99362	.	.	ENSG00000134852	ENST00000309964;ENST00000381322;ENST00000513440	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.423	0.94729	0.0:1.0:0.0:0.0	.	.	.	.	X	380	.	ENSP00000308741:E380X	E	-	1	0	CLOCK	56014046	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.653000	0.67967	2.680000	0.91292	0.650000	0.86243	GAA		0.338	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	NM_004898		A	56319289	C	A	56319289	4	1	708	1	0	0	0	0	0	1	0	0	3551	922	32	4	1438	4	CLOCK	4	56319289	Nonsense_Mutation	SNP	C	TCGA-KL-8339-01A-11D-2310-10	12142071	56319289	134834987	28	39474											
FSTL5	56884	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	4	162697068	162697068	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr4:162697068C>T	ENST00000306100.5	-	5	1004	c.568G>A	c.(568-570)Gac>Aac	p.D190N	FSTL5_ENST00000379164.4_Missense_Mutation_p.D189N|FSTL5_ENST00000536695.1_Missense_Mutation_p.D189N|FSTL5_ENST00000427802.2_Missense_Mutation_p.D189N	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	190	EF-hand 1. {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)		CCATTACTGTCTGCATCAAAA	0.289																																																0													89	93	91					4																	162697068		2203	4294	6497	SO:0001583	missense	56884			BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"EF-hand domain containing", "Immunoglobulin superfamily / I-set domain containing"	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.568G>A	4.37:g.162697068C>T	ENSP00000305334:p.Asp190Asn		E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	ENST00000306100.5	37	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	C	14.07	2.425985	0.43020	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.20598	2.06;2.06;2.06;2.06	5.3	5.3	0.74995	EF-hand-like domain (1);	0.050469	0.85682	D	0.000000	T	0.22975	0.0555	L	0.56124	1.755	0.58432	D	0.999999	B;B;B	0.25390	0.125;0.11;0.125	B;B;B	0.27262	0.028;0.078;0.056	T	0.06445	-1.0826	10	0.10111	T	0.7	.	18.3021	0.90167	0.0:1.0:0.0:0.0	.	189;189;190	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	N	190;189;189;189	ENSP00000305334:D190N;ENSP00000368462:D189N;ENSP00000389270:D189N;ENSP00000440409:D189N	ENSP00000305334:D190N	D	-	1	0	FSTL5	162916518	0.997000	0.39634	1.000000	0.80357	0.996000	0.88848	3.313000	0.51935	2.625000	0.88918	0.650000	0.86243	GAC		0.289	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		T	162697068	C	T	162697068	3	4	708	1	0	0	0	0	1	0	0	0	6082	913	32	2	2023	2	FSTL5	4	162697068	Missense_Mutation	SNP	C	TCGA-KL-8339-01A-11D-2310-10	106377779	162697068	28457208	29	39475											
SDHA	6389	mdanderson.org	37	5	236642	236642	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr5:236642G>A	ENST00000264932.6	+	10	1475	c.1360G>A	c.(1360-1362)Gca>Aca	p.A454T	SDHA_ENST00000504309.1_Missense_Mutation_p.A454T|SDHA_ENST00000510361.1_Missense_Mutation_p.A406T	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	454					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)	CCGCCTCGGGGCAAACTCGCT	0.602									Familial Paragangliomas																																							0													89	80	83					5																	236642		2203	4300	6503	SO:0001583	missense	6389	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	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.1360G>A	5.37:g.236642G>A	ENSP00000264932:p.Ala454Thr		A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	ENST00000264932.6	37	CCDS3853.1	.	.	.	.	.	.	.	.	.	.	g	17.49	3.402253	0.62288	.	.	ENSG00000073578	ENST00000264932;ENST00000327872;ENST00000504309;ENST00000510361	T;T;T	0.70749	-0.51;-0.51;-0.51	5.01	5.01	0.66863	Fumarate reductase/succinate dehydrogenase flavoprotein, N-terminal (1);	0.136629	0.48767	U	0.000166	T	0.76681	0.4021	L	0.43598	1.365	0.80722	D	1	D;B;D;D;P	0.89917	0.998;0.361;1.0;1.0;0.762	D;B;D;D;P	0.97110	0.992;0.368;1.0;0.982;0.495	T	0.77032	-0.2738	10	0.56958	D	0.05	.	9.7585	0.40517	0.0953:0.0:0.9047:0.0	.	406;454;48;454;454	E9PBJ5;B4DYN5;B3KYA5;D6RFM5;P31040	.;.;.;.;DHSA_HUMAN	T	454;309;454;406	ENSP00000264932:A454T;ENSP00000426514:A454T;ENSP00000427703:A406T	ENSP00000264932:A454T	A	+	1	0	SDHA	289642	1.000000	0.71417	0.995000	0.50966	0.042000	0.13812	9.454000	0.97621	2.483000	0.83821	0.650000	0.86243	GCA		0.602	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	NM_004168		A	236642	G	A	236642	3	1	708	1	0	0	0	0	1	0	0	0	13969	1203	42	2	1398	2	SDHA	5	236642	Missense_Mutation	SNP	G	TCGA-KL-8339-01A-11D-2310-10		236642	180678618	30	39476											
CMYA5	202333	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	5	79039710	79039710	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr5:79039710G>A	ENST00000446378.2	+	3	10730	c.10699G>A	c.(10699-10701)Gtt>Att	p.V3567I		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3567	B-box coiled-coil; BBC.				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)		TGAAGCCTTTGTTAGTGAGAT	0.318																																																0													88	80	83					5																	79039710		1801	4060	5861	SO:0001583	missense	202333			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.10699G>A	5.37:g.79039710G>A	ENSP00000394770:p.Val3567Ile		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.519669	0.85495	.	.	ENSG00000164309	ENST00000446378	T	0.27256	1.68	5.58	5.58	0.84498	.	0.000000	0.42294	D	0.000733	T	0.45256	0.1333	L	0.39397	1.21	0.45607	D	0.998549	D	0.76494	0.999	D	0.78314	0.991	T	0.28713	-1.0035	10	0.56958	D	0.05	.	19.5743	0.95436	0.0:0.0:1.0:0.0	.	3567	Q8N3K9	CMYA5_HUMAN	I	3567	ENSP00000394770:V3567I	ENSP00000394770:V3567I	V	+	1	0	CMYA5	79075466	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.746000	0.74866	2.611000	0.88343	0.655000	0.94253	GTT		0.318	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		A	79039710	G	A	79039710	3	1	708	1	0	0	0	0	1	0	0	0	3592	1377	48	2	10709	2	CMYA5	5	79039710	Missense_Mutation	SNP	G	TCGA-KL-8339-01A-11D-2310-10	78803068	79039710	101875550	31	39477											
LOX	4015	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	5	121413160	121413160	+	Missense_Mutation	SNP	G	G	A	rs369582946		TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr5:121413160G>A	ENST00000231004.4	-	1	820	c.521C>T	c.(520-522)cCc>cTc	p.P174L	LOX_ENST00000513319.1_5'Flank	NM_001178102.1|NM_002317.5	NP_001171573.1|NP_002308.2	P28300	LYOX_HUMAN	lysyl oxidase	174					blood vessel development (GO:0001568)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|elastic fiber assembly (GO:0048251)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|wound healing (GO:0042060)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)			endometrium(1)|lung(6)|prostate(1)	8		all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02)		GTACTTGTAGGGGTTGTAAGG	0.612																																																0													63	73	70					5																	121413160		2203	4300	6503	SO:0001583	missense	4015				CCDS4129.1	5q23.3-q31.2	2008-02-05			ENSG00000113083	ENSG00000113083	1.4.3.13		6664	protein-coding gene	gene with protein product		153455				1685472	Standard	NM_002317		Approved		uc003ksu.3	P28300	OTTHUMG00000128914	ENST00000231004.4:c.521C>T	5.37:g.121413160G>A	ENSP00000231004:p.Pro174Leu		B2R5Q3|Q5FWF0	Missense_Mutation	SNP	ENST00000231004.4	37	CCDS4129.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.254976	0.80135	.	.	ENSG00000113083	ENST00000231004;ENST00000543620	T	0.31247	1.5	4.41	4.41	0.53225	.	0.000000	0.85682	D	0.000000	T	0.44685	0.1305	M	0.65498	2.005	0.80722	D	1	D	0.54047	0.964	P	0.50860	0.652	T	0.53143	-0.8480	10	0.87932	D	0	.	16.6221	0.84933	0.0:0.0:1.0:0.0	.	174	P28300	LYOX_HUMAN	L	174;134	ENSP00000231004:P174L	ENSP00000231004:P174L	P	-	2	0	LOX	121441059	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	8.810000	0.91950	1.993000	0.58246	0.305000	0.20034	CCC		0.612	LOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250887.2			A	121413160	G	A	121413160	3	1	708	1	0	0	0	0	1	0	0	0	8900	1232	43	2	760	2	LOX	5	121413160	Missense_Mutation	SNP	G	TCGA-KL-8339-01A-11D-2310-10	42373450	121413160	59502100	32	39478											
FSTL4	23105	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	5	132534972	132534972	+	Missense_Mutation	SNP	C	C	A			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr5:132534972C>A	ENST00000265342.7	-	16	2593	c.2344G>T	c.(2344-2346)Gca>Tca	p.A782S	CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	782						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCTGGCCCTGCGGGTGGCTCC	0.602																																																0													43	43	43					5																	132534972		2203	4300	6503	SO:0001583	missense	23105			AB028984	CCDS34238.1	5q31.1	2013-01-29			ENSG00000053108	ENSG00000053108		"EF-hand domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	21389	protein-coding gene	gene with protein product						10470851, 15527507	Standard	NM_015082		Approved	KIAA1061	uc003kyn.1	Q6MZW2	OTTHUMG00000162729	ENST00000265342.7:c.2344G>T	5.37:g.132534972C>A	ENSP00000265342:p.Ala782Ser		Q8TBU0|Q9UPU1	Missense_Mutation	SNP	ENST00000265342.7	37	CCDS34238.1	.	.	.	.	.	.	.	.	.	.	T	3.228	-0.158117	0.06544	.	.	ENSG00000053108	ENST00000265342;ENST00000360575	T	0.25579	1.79	4.9	-9.79	0.00494	.	1.566590	0.03671	N	0.243995	T	0.15435	0.0372	L	0.42245	1.32	0.09310	N	1	B;B	0.15141	0.012;0.001	B;B	0.11329	0.006;0.004	T	0.15578	-1.0432	10	0.09590	T	0.72	2.0844	6.6114	0.22753	0.1669:0.5332:0.0789:0.2209	.	782;431	Q6MZW2;B3KPF3	FSTL4_HUMAN;.	S	782;613	ENSP00000265342:A782S	ENSP00000265342:A782S	A	-	1	0	FSTL4	132562871	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	-1.725000	0.01863	-2.178000	0.00768	-0.352000	0.07741	GCA		0.602	FSTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370212.1	XM_048786		A	132534972	C	A	132534972	3	1	708	1	0	0	0	0	1	0	0	0	6081	768	27	4	188	4	FSTL4	5	132534972	Missense_Mutation	SNP	C	TCGA-KL-8339-01A-11D-2310-10	11121812	132534972	48380288	33	39479											
NEUROG1	4762	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	5	134871070	134871070	+	Missense_Mutation	SNP	C	C	A			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr5:134871070C>A	ENST00000314744.4	-	1	569	c.311G>T	c.(310-312)cGc>cTc	p.R104L		NM_006161.2	NP_006152.2	Q92886	NGN1_HUMAN	neurogenin 1	104	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell fate commitment (GO:0045165)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|neuron differentiation (GO:0030182)|positive regulation of exit from mitosis (GO:0031536)|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)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perikaryon (GO:0043204)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)			endometrium(1)|liver(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTTGTGCATGCGGTTGCGCTC	0.711																																																0													37	38	38					5																	134871070		2203	4299	6502	SO:0001583	missense	4762			U63842	CCDS4187.1	5q23-q31	2013-05-21			ENSG00000181965	ENSG00000181965		"Basic helix-loop-helix proteins"	7764	protein-coding gene	gene with protein product	"neurogenic differentiation 3"	601726		NEUROD3		9119405	Standard	NM_006161		Approved	AKA, Math4C, ngn1, bHLHa6	uc003lax.3	Q92886	OTTHUMG00000129138	ENST00000314744.4:c.311G>T	5.37:g.134871070C>A	ENSP00000317580:p.Arg104Leu		Q5U0Q9|Q96HE1	Missense_Mutation	SNP	ENST00000314744.4	37	CCDS4187.1	.	.	.	.	.	.	.	.	.	.	c	27.3	4.818538	0.90790	.	.	ENSG00000181965	ENST00000314744	D	0.99709	-6.48	4.74	4.74	0.60224	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99866	0.9937	H	0.98833	4.345	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96174	0.9125	10	0.87932	D	0	-2.6733	17.7034	0.88302	0.0:1.0:0.0:0.0	.	104	Q92886	NGN1_HUMAN	L	104	ENSP00000317580:R104L	ENSP00000317580:R104L	R	-	2	0	NEUROG1	134898969	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.696000	0.84270	2.166000	0.68216	0.651000	0.88453	CGC		0.711	NEUROG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251192.1	NM_006161		A	134871070	C	A	134871070	3	1	708	1	0	0	0	0	1	0	0	0	10354	768	27	4	406	4	NEUROG1	5	134871070	Missense_Mutation	SNP	C	TCGA-KL-8339-01A-11D-2310-10	2336098	134871070	46044190	34	39480											
DIAPH1	1729	broad.mit.edu	37	5	140907261	140907261	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr5:140907261delG	ENST00000398557.4	-	24	3292	c.3152delC	c.(3151-3153)tctfs	p.S1051fs	DIAPH1_ENST00000518047.1_Frame_Shift_Del_p.S1039fs|DIAPH1_ENST00000253811.6_Frame_Shift_Del_p.S1052fs|DIAPH1_ENST00000398566.3_Frame_Shift_Del_p.S1043fs|DIAPH1_ENST00000389057.5_Frame_Shift_Del_p.S1042fs|DIAPH1_ENST00000494967.1_5'Flank|DIAPH1_ENST00000520569.1_Frame_Shift_Del_p.S994fs|DIAPH1_ENST00000389054.3_Frame_Shift_Del_p.S1048fs|DIAPH1_ENST00000398562.2_Frame_Shift_Del_p.S1027fs	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	1051	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				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)			GTTTTCAGCAGAAACTaaaaa	0.358																																																0													46	41	42					5																	140907261		1799	4064	5863	SO:0001589	frameshift_variant	1729			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.3152delC	5.37:g.140907261delG	ENSP00000381565:p.Ser1051fs		A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Frame_Shift_Del	DEL	ENST00000398557.4	37	CCDS43374.1																																																																																				0.358	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_005219		-	140907261	G	-	140907261	7	5	708	1	0	1	0	1	0	0	0	0	4520	942	33	0	686	0	DIAPH1	5	140907261	Frame_Shift_Del	DEL	G	TCGA-KL-8339-01A-11D-2310-10	6036191	140907261	40007999	35	39481											
NR3C1	2908	mdanderson.org	37	5	142779662	142779662	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr5:142779662A>G	ENST00000343796.2	-	2	1736	c.743T>C	c.(742-744)cTc>cCc	p.L248P	NR3C1_ENST00000503201.1_Missense_Mutation_p.L248P|NR3C1_ENST00000415690.2_Missense_Mutation_p.L248P|NR3C1_ENST00000394464.2_Missense_Mutation_p.L248P|NR3C1_ENST00000231509.3_Missense_Mutation_p.L248P|NR3C1_ENST00000424646.2_Missense_Mutation_p.L248P|NR3C1_ENST00000504572.1_Missense_Mutation_p.L248P|NR3C1_ENST00000394466.2_Missense_Mutation_p.L248P|NR3C1_ENST00000416954.2_Intron	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)	248	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)	CGGTAAAATGAGAGGCTTGCA	0.423																																																0													115	120	118					5																	142779662		2203	4300	6503	SO:0001583	missense	2908			X03225	CCDS4278.1, CCDS34258.1, CCDS47298.1	5q31-q32	2013-01-16	2002-08-27		ENSG00000113580	ENSG00000113580		"Nuclear hormone receptors"	7978	protein-coding gene	gene with protein product		138040	"nuclear receptor subfamily 3, group C, member 1"	GRL		2867473	Standard	NM_001204258		Approved	GR	uc003lnb.3	P04150	OTTHUMG00000129677	ENST00000343796.2:c.743T>C	5.37:g.142779662A>G	ENSP00000343205:p.Leu248Pro		A0ZXF9|B0LPG8|D3DQF4|P04151|Q53EP5|Q6N0A4	Missense_Mutation	SNP	ENST00000343796.2	37	CCDS4278.1	.	.	.	.	.	.	.	.	.	.	A	10.35	1.326693	0.24080	.	.	ENSG00000113580	ENST00000394464;ENST00000343796;ENST00000361001;ENST00000415690;ENST00000424646;ENST00000504572;ENST00000394466;ENST00000231509;ENST00000503201	T;T;T;T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43	5.46	4.3	0.51218	.	0.422460	0.26086	N	0.026425	T	0.34193	0.0889	L	0.49455	1.56	0.80722	D	1	B;P;B	0.48589	0.001;0.912;0.002	B;P;B	0.50231	0.01;0.635;0.017	T	0.04454	-1.0950	10	0.34782	T	0.22	.	7.6771	0.28492	0.7903:0.0:0.2097:0.0	.	248;248;248	E5KQF5;P04150;E5KQF6	.;GCR_HUMAN;.	P	248	ENSP00000377977:L248P;ENSP00000343205:L248P;ENSP00000387672:L248P;ENSP00000405282:L248P;ENSP00000422518:L248P;ENSP00000377979:L248P;ENSP00000231509:L248P;ENSP00000427672:L248P	ENSP00000231509:L248P	L	-	2	0	NR3C1	142759855	0.948000	0.32251	0.887000	0.34795	0.995000	0.86356	1.994000	0.40757	0.898000	0.36418	0.528000	0.53228	CTC		0.423	NR3C1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370829.1			G	142779662	A	G	142779662	3	3	708	1	0	0	0	0	1	0	0	0	10632	304	11	3	1677	3	NR3C1	5	142779662	Missense_Mutation	SNP	A	TCGA-KL-8339-01A-11D-2310-10	1872401	142779662	38135598	36	39482											
TCERG1	10915	mdanderson.org	37	5	145838659	145838659	+	Silent	SNP	C	C	T	rs111965890		TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr5:145838659C>T	ENST00000296702.5	+	4	689	c.651C>T	c.(649-651)gcC>gcT	p.A217A	TCERG1_ENST00000394421.2_Silent_p.A217A	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	217	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)			aggcccaggcccaggcccagg	0.731																																																0													10	14	13					5																	145838659		2185	4266	6451	SO:0001819	synonymous_variant	10915			AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"transcription factor CA150", "co-activator of 150 kDa", "TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD", "TATA box-binding protein-associated factor 2S"	605409	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.651C>T	5.37:g.145838659C>T			Q2NKN2|Q59EA1	Silent	SNP	ENST00000296702.5	37	CCDS4282.1																																																																																				0.731	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		T	145838659	C	T	145838659	2	4	708	1	0	0	0	0	0	0	0	1	15690	610	22	2		2	TCERG1	5	145838659	Silent	SNP	C	TCGA-KL-8339-01A-11D-2310-10	3058997	145838659	35076601	37	39483											
HIST1H2BO	8348	broad.mit.edu;mdanderson.org;bcgsc.ca	37	6	27861260	27861260	+	Missense_Mutation	SNP	C	C	G			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr6:27861260C>G	ENST00000303806.4	+	1	58	c.20C>G	c.(19-21)tCt>tGt	p.S7C	HIST1H3J_ENST00000479986.1_5'Flank|HIST1H3J_ENST00000359303.2_5'Flank|HIST1H2AM_ENST00000359611.2_5'Flank	NM_003527.4	NP_003518.2	P23527	H2B1O_HUMAN	histone cluster 1, H2bo	7					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)										CCGGCTAAATCTGCTCCTGCC	0.498																																																0													51	55	54					6																	27861260		2203	4300	6503	SO:0001583	missense	8348			X57138	CCDS4640.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000196331			"Histones / Replication-dependent"	4758	protein-coding gene	gene with protein product		602808	"H2B histone family, member N", "histone 1, H2bo"	H2BFN		1768865, 12408966	Standard	NM_003527		Approved	H2B/n, H2B.2	uc003nkc.1	P23527	OTTHUMG00000014493	ENST00000303806.4:c.20C>G	6.37:g.27861260C>G	ENSP00000303408:p.Ser7Cys		Q3KPI7|Q8TCV6	Missense_Mutation	SNP	ENST00000303806.4	37	CCDS4640.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.279650	0.59758	.	.	ENSG00000196331	ENST00000303806	T	0.19105	2.17	3.7	3.7	0.42460	Histone-fold (2);	.	.	.	.	T	0.25344	0.0616	M	0.85859	2.78	0.35931	D	0.832534	D	0.54047	0.964	P	0.45610	0.487	T	0.40979	-0.9534	9	0.87932	D	0	.	15.2409	0.73468	0.0:1.0:0.0:0.0	.	7	P23527	H2B1O_HUMAN	C	7	ENSP00000303408:S7C	ENSP00000303408:S7C	S	+	2	0	HIST1H2BO	27969239	0.988000	0.35896	0.544000	0.28141	0.045000	0.14185	3.909000	0.56363	2.356000	0.79943	0.561000	0.74099	TCT		0.498	HIST1H2BO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040161.1	NM_003527		G	27861260	C	G	27861260	3	3	708	1	0	0	0	0	1	0	0	0	7156	913	32	4	22	4	HIST1H2BO	6	27861260	Missense_Mutation	SNP	C	TCGA-KL-8339-01A-11D-2310-10		27861260	143253807	38	39484											
FAM46A	55603	ucsc.edu	37	6	82461832	82461832	+	Silent	SNP	G	G	A			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr6:82461832G>A	ENST00000320172.6	-	2	341	c.27C>T	c.(25-27)gcC>gcT	p.A9A	FAM46A_ENST00000369756.3_Silent_p.A90A|FAM46A_ENST00000369754.3_Silent_p.A28A	NM_017633.2	NP_060103.2	Q96IP4	FA46A_HUMAN	family with sequence similarity 46, member A	9					regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)		poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	12		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)		BRCA - Breast invasive adenocarcinoma(397;0.0428)		CCTCAGACATGGCGAAGTACC	0.677																																																0													4	5	4					6																	82461832		1640	3652	5292	SO:0001819	synonymous_variant	55603			AF350451	CCDS34489.1	6q14	2008-07-03	2004-08-19	2004-08-26	ENSG00000112773	ENSG00000112773			18345	protein-coding gene	gene with protein product		611357	"chromosome 6 open reading frame 37"	C6orf37		12054608, 17803723	Standard	NM_017633		Approved	FLJ20037	uc003pjg.3	Q96IP4	OTTHUMG00000015097	ENST00000320172.6:c.27C>T	6.37:g.82461832G>A			A8K7U4|Q5TF86|Q8NFZ9|Q9BW32|Q9NXV5	Silent	SNP	ENST00000320172.6	37	CCDS34489.1																																																																																				0.677	FAM46A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041331.1			A	82461832	G	A	82461832	2	1	708	1	0	0	0	0	0	0	0	1	5567	1335	47	2		2	FAM46A	6	82461832	Silent	SNP	G	TCGA-KL-8339-01A-11D-2310-10	54600572	82461832	88653235	39	39485											
C6orf192	116843	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	6	133105219	133105219	+	Missense_Mutation	SNP	C	C	G			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr6:133105219C>G	ENST00000275227.4	-	6	607	c.511G>C	c.(511-513)Gag>Cag	p.E171Q	SLC18B1_ENST00000367918.1_Intron|SLC18B1_ENST00000538764.1_Missense_Mutation_p.E45Q	NM_052831.2	NP_439896.1	Q6NT16	S18B1_HUMAN	solute carrier family 18, subfamily B, member 1	171					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)											GAAAAAGTCTCAAGACTTCCC	0.333																																																0													70	75	73					6																	133105219		2203	4300	6503	SO:0001583	missense	116843			AK124442	CCDS5163.1	6q22.3-q23.3	2013-05-22	2012-03-09	2012-03-09	ENSG00000146409	ENSG00000146409		"Solute carriers"	21573	protein-coding gene	gene with protein product		613361	"chromosome 6 open reading frame 192"	C6orf192		19697161	Standard	XM_006715328		Approved	dJ55C23.6	uc003qdw.1	Q6NT16	OTTHUMG00000015595	ENST00000275227.4:c.511G>C	6.37:g.133105219C>G	ENSP00000275227:p.Glu171Gln		A8K1K3|B3KW77|Q6ISF2	Missense_Mutation	SNP	ENST00000275227.4	37	CCDS5163.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.982690	0.74474	.	.	ENSG00000146409	ENST00000275227;ENST00000538764	T;T	0.57595	0.39;0.39	5.53	5.53	0.82687	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.67924	0.2945	M	0.85859	2.78	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.996	T	0.65664	-0.6113	10	0.12766	T	0.61	-13.6973	19.0578	0.93072	0.0:1.0:0.0:0.0	.	45;171	B7Z1S5;Q6NT16	.;CF192_HUMAN	Q	171;45	ENSP00000275227:E171Q;ENSP00000444098:E45Q	ENSP00000275227:E171Q	E	-	1	0	C6orf192	133146912	1.000000	0.71417	1.000000	0.80357	0.553000	0.35397	7.188000	0.77739	2.588000	0.87417	0.655000	0.94253	GAG		0.333	SLC18B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042273.1	NM_052831		G	133105219	C	G	133105219	3	3	708	1	0	0	0	0	1	0	0	0	2351	835	29	4	895	4	C6orf192	6	133105219	Missense_Mutation	SNP	C	TCGA-KL-8339-01A-11D-2310-10	50643387	133105219	38009848	40	39486											
WBSCR17	64409	broad.mit.edu	37	7	70880909	70880909	+	Missense_Mutation	SNP	C	C	A			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr7:70880909C>A	ENST00000333538.5	+	4	1258	c.624C>A	c.(622-624)caC>caA	p.H208Q	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	208	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)			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)				AGTATGTCCACAAACGCTACC	0.512																																																0													72	67	68					7																	70880909		2203	4300	6503	SO:0001583	missense	64409			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.624C>A	7.37:g.70880909C>A	ENSP00000329654:p.His208Gln		Q8NFV9|Q9NTA8	Missense_Mutation	SNP	ENST00000333538.5	37	CCDS5540.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.597224	0.46318	.	.	ENSG00000185274	ENST00000333538;ENST00000447516	T;T	0.60040	0.22;2.03	5.17	2.99	0.34606	Glycosyl transferase, family 2 (1);	0.161582	0.53938	N	0.000060	T	0.25754	0.0627	N	0.01522	-0.82	0.39451	D	0.967404	B	0.18310	0.027	B	0.22152	0.038	T	0.08166	-1.0735	10	0.12766	T	0.61	.	9.7602	0.40528	0.0:0.7346:0.1376:0.1277	.	208	Q6IS24	GLTL3_HUMAN	Q	208;186	ENSP00000329654:H208Q;ENSP00000392019:H186Q	ENSP00000329654:H208Q	H	+	3	2	WBSCR17	70518845	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.171000	0.31896	1.170000	0.42753	0.563000	0.77884	CAC		0.512	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479		A	70880909	C	A	70880909	3	1	708	1	0	0	0	0	1	0	0	0	17269	477	17	4	638	4	WBSCR17	7	70880909	Missense_Mutation	SNP	C	TCGA-KL-8339-01A-11D-2310-10		70880909	88257754	41	39487											
GNB2	2783	mdanderson.org	37	7	100276355	100276355	+	Silent	SNP	C	C	T	rs17850902	byFrequency	TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr7:100276355C>T	ENST00000303210.4	+	10	1436	c.954C>T	c.(952-954)ctC>ctT	p.L318L	GNB2_ENST00000419828.1_Silent_p.L218L|GNB2_ENST00000393926.1_Silent_p.L318L|GNB2_ENST00000436220.1_Silent_p.L274L|GNB2_ENST00000393924.1_Silent_p.L318L|GNB2_ENST00000424361.1_Silent_p.L274L|GNB2_ENST00000427895.1_Silent_p.L218L	NM_005273.3	NP_005264.2	P62879	GBB2_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2	318					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)				TGAGCTGCCTCGGGGTCACCG	0.652													C|||	17	0.00339457	0.0008	0.0029	5008	,	,		16180	0.001		0.005	False		,,,				2504	0.0082															0								C		7,4399		0,7,2196	60	63	62		954	-6	0.9	7	dbSNP_123	62	76,8524		0,76,4224	no	coding-synonymous	GNB2	NM_005273.3		0,83,6420	TT,TC,CC		0.8837,0.1589,0.6382		318/341	100276355	83,12923	2203	4300	6503	SO:0001819	synonymous_variant	2783			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.954C>T	7.37:g.100276355C>T			B3KPU1|P11016|P54312	Silent	SNP	ENST00000303210.4	37	CCDS5703.1																																																																																				0.652	GNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268391.2	NM_005273		T	100276355	C	T	100276355	2	4	708	1	0	0	0	0	0	0	0	1	6519	871	31	1		1	GNB2	7	100276355	Silent	SNP	C	TCGA-KL-8339-01A-11D-2310-10	29395446	100276355	58862308	42	39488											
ASB15	142685	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	7	123254584	123254584	+	Missense_Mutation	SNP	G	G	C			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr7:123254584G>C	ENST00000451558.1	+	6	549	c.28G>C	c.(28-30)Gac>Cac	p.D10H	ASB15_ENST00000540573.1_Missense_Mutation_p.D10H|ASB15_ENST00000451215.1_Missense_Mutation_p.D10H|RP11-390E23.3_ENST00000440504.1_RNA|RP11-390E23.3_ENST00000422401.1_RNA|RP11-390E23.3_ENST00000418409.1_RNA|ASB15_ENST00000434204.1_Missense_Mutation_p.D10H|ASB15_ENST00000275699.3_Missense_Mutation_p.D10H			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	10					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						CCCTGATGAAGACCATCTTAC	0.358																																																0													207	209	209					7																	123254584		2203	4300	6503	SO:0001583	missense	142685			AF403033	CCDS34742.1	7q31.31	2013-01-10	2011-01-25		ENSG00000146809	ENSG00000146809		"Ankyrin repeat domain containing"	19767	protein-coding gene	gene with protein product			"ankyrin repeat and SOCS box-containing 15"			12076535	Standard	XM_005250149		Approved	FLJ43370	uc003vkw.1	Q8WXK1	OTTHUMG00000157114	ENST00000451558.1:c.28G>C	7.37:g.123254584G>C	ENSP00000397655:p.Asp10His		Q3ZCP3|Q3ZCP5|Q68D37	Missense_Mutation	SNP	ENST00000451558.1	37	CCDS34742.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.659785	0.88154	.	.	ENSG00000146809	ENST00000451558;ENST00000434204;ENST00000437535;ENST00000451215;ENST00000540573;ENST00000447789;ENST00000275699	T;T;T;T;T;T;T	0.73789	-0.71;-0.71;0.18;-0.71;-0.71;-0.78;-0.71	6.04	6.04	0.98038	.	0.000000	0.64402	D	0.000002	D	0.85448	0.5699	M	0.65498	2.005	0.58432	D	0.999999	D	0.76494	0.999	D	0.68039	0.955	D	0.84706	0.0731	10	0.56958	D	0.05	-26.6264	20.1899	0.98228	0.0:0.0:1.0:0.0	.	10	Q8WXK1	ASB15_HUMAN	H	10	ENSP00000397655:D10H;ENSP00000390963:D10H;ENSP00000406163:D10H;ENSP00000416433:D10H;ENSP00000438643:D10H;ENSP00000401166:D10H;ENSP00000275699:D10H	ENSP00000275699:D10H	D	+	1	0	ASB15	123041820	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.723000	0.84788	2.873000	0.98535	0.563000	0.77884	GAC		0.358	ASB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347493.1			C	123254584	G	C	123254584	3	2	708	1	0	0	0	0	1	0	0	0	1019	942	33	4	30	4	ASB15	7	123254584	Missense_Mutation	SNP	G	TCGA-KL-8339-01A-11D-2310-10	22978229	123254584	35884079	43	39489											
ARHGEF5	7984	broad.mit.edu	37	7	144062428	144062428	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr7:144062428delT	ENST00000056217.5	+	2	2840	c.2666delT	c.(2665-2667)ctcfs	p.L889fs	ARHGEF5_ENST00000471847.2_5'Flank	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	889					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)|myeloid dendritic cell chemotaxis (GO:0002408)|positive regulation of podosome assembly (GO:0071803)|regulation of Rho GTPase activity (GO:0032319)		GTP binding (GO:0005525)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L889P(1)		breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					ACAGTCCCCCTCCCTGCCTCT	0.597																																																1	Substitution - Missense(1)	large_intestine(1)											12	14	13					7																	144062428		2011	4057	6068	SO:0001589	frameshift_variant	7984			U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"Rho guanine nucleotide exchange factors"	13209	protein-coding gene	gene with protein product	"transforming immortalized mammary oncogene", "guanine nucleotide regulatory protein TIM"	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.2666delT	7.37:g.144062428delT	ENSP00000056217:p.Leu889fs		A6NNJ2|Q6ZML7	Frame_Shift_Del	DEL	ENST00000056217.5	37	CCDS34771.1																																																																																				0.597	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349981.1	NM_005435		-	144062428	T	-	144062428	7	5	708	1	0	1	0	1	0	0	0	0	909	1551	54	0	2668	0	ARHGEF5	7	144062428	Frame_Shift_Del	DEL	T	TCGA-KL-8339-01A-11D-2310-10	20807844	144062428	15076235	44	39490											
MTMR9	66036	broad.mit.edu	37	8	11162509	11162509	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr8:11162509delA	ENST00000221086.3	+	4	1050	c.577delA	c.(577-579)aaafs	p.K194fs	MTMR9_ENST00000526292.1_Frame_Shift_Del_p.K109fs	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	194	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.			K -> R (in Ref. 2; BAA91170). {ECO:0000305}.		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)		CTATTACCACAAAAAAAATGG	0.453																																																0													97	82	87					8																	11162509		2203	4300	6503	SO:0001589	frameshift_variant	66036			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.577delA	8.37:g.11162509delA	ENSP00000221086:p.Lys194fs		B7Z291|Q52LU3|Q8WW11|Q96QG6|Q9NX50	Frame_Shift_Del	DEL	ENST00000221086.3	37	CCDS5979.1																																																																																				0.453	MTMR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207307.2	NM_015458		-	11162509	A	-	11162509	7	5	708	1	0	1	0	1	0	0	0	0	9952	131	5	0	591	0	MTMR9	8	11162509	Frame_Shift_Del	DEL	A	TCGA-KL-8339-01A-11D-2310-10		11162509	135201513	45	39491											
CPNE3	8895	broad.mit.edu	37	8	87558847	87558847	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr8:87558847delA	ENST00000521271.1	+	10	919	c.757delA	c.(757-759)aaafs	p.K254fs	CPNE3_ENST00000198765.4_Frame_Shift_Del_p.K254fs	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN	copine III	254					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						CATAAATGAGAAAAAAAGGCA	0.308																																																0													90	104	99					8																	87558847		2203	4300	6503	SO:0001589	frameshift_variant	8895			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.757delA	8.37:g.87558847delA	ENSP00000430934:p.Lys254fs		A8KA47|Q8IYA1	Frame_Shift_Del	DEL	ENST00000521271.1	37	CCDS6243.1																																																																																				0.308	CPNE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374994.1			-	87558847	A	-	87558847	7	5	708	1	0	1	0	1	0	0	0	0	3815	247	9	0	787	0	CPNE3	8	87558847	Frame_Shift_Del	DEL	A	TCGA-KL-8339-01A-11D-2310-10	76396338	87558847	58805175	46	39492											
KCNQ3	3786	broad.mit.edu;ucsc.edu;mdanderson.org	37	8	133141626	133141626	+	Silent	SNP	G	G	A			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr8:133141626G>A	ENST00000388996.4	-	15	2922	c.2502C>T	c.(2500-2502)gcC>gcT	p.A834A	KCNQ3_ENST00000519445.1_Silent_p.A822A|KCNQ3_ENST00000521134.1_Silent_p.A714A	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	834					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)	TCTCACCCTCGGCGAGGTACC	0.592																																																0													77	67	70					8																	133141626		2203	4300	6503	SO:0001819	synonymous_variant	3786			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.2502C>T	8.37:g.133141626G>A			A2VCT8|B4DJY4|E7EQ89	Silent	SNP	ENST00000388996.4	37	CCDS34943.1																																																																																				0.592	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		A	133141626	G	A	133141626	2	1	708	1	0	0	0	0	0	0	0	1	8086	1103	39	1		1	KCNQ3	8	133141626	Silent	SNP	G	TCGA-KL-8339-01A-11D-2310-10	45582779	133141626	13222396	47	39493											
PHF20L1	51105	broad.mit.edu;mdanderson.org	37	8	133851655	133851655	+	Missense_Mutation	SNP	C	C	T	rs371605549		TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr8:133851655C>T	ENST00000395386.2	+	18	2514	c.2215C>T	c.(2215-2217)Cgt>Tgt	p.R739C	AF230666.2_ENST00000429151.1_RNA|PHF20L1_ENST00000395390.2_Missense_Mutation_p.R714C|PHF20L1_ENST00000220847.7_Missense_Mutation_p.R126C|AF230666.2_ENST00000608375.1_RNA	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	739							zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TGCAAAATATCGTTATGATAA	0.368																																																0								C	CYS/ARG	0,3774		0,0,1887	135	129	131		2215	5.4	0.9	8		131	1,8249		0,1,4124	no	missense	PHF20L1	NM_016018.4	180	0,1,6011	TT,TC,CC		0.0121,0.0,0.0083	possibly-damaging	739/1018	133851655	1,12023	1887	4125	6012	SO:0001583	missense	51105			AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"Tudor domain containing", "Zinc fingers, PHD-type"	24280	protein-coding gene	gene with protein product	"tudor domain containing 20B"					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.2215C>T	8.37:g.133851655C>T	ENSP00000378784:p.Arg739Cys		A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Missense_Mutation	SNP	ENST00000395386.2	37	CCDS6367.2	.	.	.	.	.	.	.	.	.	.	C	18.44	3.624173	0.66901	0.0	1.21E-4	ENSG00000129292	ENST00000395386;ENST00000220847;ENST00000395390	T;T	0.32023	1.47;1.47	5.41	5.41	0.78517	Zinc finger, FYVE/PHD-type (1);	0.405112	0.24003	U	0.042449	T	0.42268	0.1195	L	0.54323	1.7	0.58432	D	0.999992	D;D	0.64830	0.994;0.99	P;B	0.50049	0.629;0.425	T	0.35176	-0.9799	10	0.66056	D	0.02	-30.1161	18.1918	0.89809	0.0:1.0:0.0:0.0	.	714;739	F8W9L8;A8MW92	.;P20L1_HUMAN	C	739;126;714	ENSP00000378784:R739C;ENSP00000378788:R714C	ENSP00000220847:R126C	R	+	1	0	PHF20L1	133920837	1.000000	0.71417	0.945000	0.38365	0.976000	0.68499	4.465000	0.60141	2.552000	0.86080	0.655000	0.94253	CGT		0.368	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3	NM_016018		T	133851655	C	T	133851655	3	4	708	1	0	0	0	0	1	0	0	0	11834	884	31	1	2377	1	PHF20L1	8	133851655	Missense_Mutation	SNP	C	TCGA-KL-8339-01A-11D-2310-10	710029	133851655	12512367	48	39494											
COL22A1	169044	broad.mit.edu;ucsc.edu;mdanderson.org	37	8	139674282	139674282	+	Silent	SNP	G	G	A	rs368271751		TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr8:139674282G>A	ENST00000303045.6	-	43	3677	c.3231C>T	c.(3229-3231)gcC>gcT	p.A1077A	COL22A1_ENST00000435777.1_Silent_p.A1057A|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1077	Collagen-like 9.|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)			CGTCCCGGCCGGCTGGGCCCT	0.542										HNSCC(7;0.00092)																																						0								G		0,4406		0,0,2203	106	95	99		3231	-2.6	1	8		99	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	COL22A1	NM_152888.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1077/1627	139674282	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	169044			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.3231C>T	8.37:g.139674282G>A			B7ZMH0|C9K0G4|Q8IVT9	Silent	SNP	ENST00000303045.6	37	CCDS6376.1																																																																																				0.542	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		A	139674282	G	A	139674282	2	1	708	1	0	0	0	0	0	0	0	1	3683	1103	39	1		1	COL22A1	8	139674282	Silent	SNP	G	TCGA-KL-8339-01A-11D-2310-10	5822627	139674282	6689740	49	39495											
GNA14	9630	broad.mit.edu	37	9	80049325	80049325	+	Silent	SNP	G	G	A			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr9:80049325G>A	ENST00000341700.6	-	3	936	c.423C>T	c.(421-423)taC>taT	p.Y141Y	GNA14_ENST00000464095.1_5'Flank	NM_004297.3	NP_004288.1	O95837	GNA14_HUMAN	guanine nucleotide binding protein (G protein), alpha 14	141					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						TCCTCCTGTCGTAACACTCCT	0.582											OREG0019263	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													120	93	102					9																	80049325		2203	4300	6503	SO:0001819	synonymous_variant	9630			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.423C>T	9.37:g.80049325G>A		1195	B1ALW3	Silent	SNP	ENST00000341700.6	37	CCDS6657.1																																																																																				0.582	GNA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052759.1			A	80049325	G	A	80049325	2	1	708	1	0	0	0	0	0	0	0	1	6504	1140	40	1		1	GNA14	9	80049325	Silent	SNP	G	TCGA-KL-8339-01A-11D-2310-10		80049325	61164106	50	39496											
HEMGN	55363	broad.mit.edu;mdanderson.org	37	9	100693400	100693400	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr9:100693400C>T	ENST00000259456.3	-	4	420	c.277G>A	c.(277-279)Gaa>Aaa	p.E93K		NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN	hemogen	93					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)	nucleus (GO:0005634)				NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				ATTTCCTTTTCTATCTGTGGC	0.443																																																0													154	146	149					9																	100693400		2203	4300	6503	SO:0001583	missense	55363			AF228713	CCDS6731.1	9q22.33	2014-01-21			ENSG00000136929	ENSG00000136929			17509	protein-coding gene	gene with protein product		610715					Standard	NM_018437		Approved	EDAG, CT155, NDR	uc004axy.4	Q9BXL5	OTTHUMG00000020336	ENST00000259456.3:c.277G>A	9.37:g.100693400C>T	ENSP00000259456:p.Glu93Lys		Q6XAR3|Q86XY5|Q9NPC0	Missense_Mutation	SNP	ENST00000259456.3	37	CCDS6731.1	.	.	.	.	.	.	.	.	.	.	C	10.06	1.248041	0.22880	.	.	ENSG00000136929	ENST00000375112;ENST00000259456	.	.	.	4.84	1.5	0.22942	.	0.604415	0.17410	N	0.175222	T	0.18923	0.0454	N	0.19112	0.55	0.09310	N	1	B	0.26602	0.154	B	0.23716	0.048	T	0.15263	-1.0443	9	0.26408	T	0.33	-4.9581	5.7006	0.17881	0.0:0.5751:0.0:0.4249	.	93	Q9BXL5	HEMGN_HUMAN	K	93	.	ENSP00000259456:E93K	E	-	1	0	HEMGN	99733221	0.855000	0.29742	0.267000	0.24556	0.773000	0.43773	0.103000	0.15292	0.533000	0.28675	0.591000	0.81541	GAA		0.443	HEMGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053344.2	NM_197978		T	100693400	C	T	100693400	3	4	708	1	0	0	0	0	1	0	0	0	7052	922	32	2	1185	2	HEMGN	9	100693400	Missense_Mutation	SNP	C	TCGA-KL-8339-01A-11D-2310-10	20644075	100693400	40520031	51	39497											
FUBP3	8939	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	9	133507382	133507382	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr9:133507382A>G	ENST00000319725.9	+	15	1481	c.1406A>G	c.(1405-1407)aAt>aGt	p.N469S		NM_003934.1	NP_003925.1	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	469					positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		GCCAAGGTGAATGGGAACCCC	0.552																																																0													99	104	103					9																	133507382		1953	4139	6092	SO:0001583	missense	8939			U69127	CCDS43893.1	9q34.11	2008-02-05			ENSG00000107164	ENSG00000107164			4005	protein-coding gene	gene with protein product		603536		FBP3		8940189	Standard	NM_003934		Approved		uc004bzr.1	Q96I24	OTTHUMG00000020809	ENST00000319725.9:c.1406A>G	9.37:g.133507382A>G	ENSP00000318177:p.Asn469Ser		A3KFK8|A3KFL0|Q92946|Q9BVB6	Missense_Mutation	SNP	ENST00000319725.9	37	CCDS43893.1	.	.	.	.	.	.	.	.	.	.	A	7.924	0.739134	0.15642	.	.	ENSG00000107164	ENST00000319725	T	0.43294	0.95	4.57	4.57	0.56435	.	0.354853	0.28151	N	0.016416	T	0.25827	0.0629	N	0.22421	0.69	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.07046	-1.0793	10	0.11485	T	0.65	-7.3958	10.6122	0.45429	1.0:0.0:0.0:0.0	.	469;469	A3KFK8;Q96I24	.;FUBP3_HUMAN	S	469	ENSP00000318177:N469S	ENSP00000318177:N469S	N	+	2	0	FUBP3	132497203	0.974000	0.33945	0.953000	0.39169	0.746000	0.42486	2.155000	0.42301	1.814000	0.52955	0.459000	0.35465	AAT		0.552	FUBP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054666.1			G	133507382	A	G	133507382	3	3	708	1	0	0	0	0	1	0	0	0	6095	101	4	3	1464	3	FUBP3	9	133507382	Missense_Mutation	SNP	A	TCGA-KL-8339-01A-11D-2310-10	32813982	133507382	7706049	52	39498											
PNPLA7	375775	ucsc.edu;mdanderson.org;bcgsc.ca	37	9	140409846	140409846	+	Missense_Mutation	SNP	G	G	C			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr9:140409846G>C	ENST00000277531.4	-	11	1321	c.1135C>G	c.(1135-1137)Cct>Gct	p.P379A	PNPLA7_ENST00000406427.1_Missense_Mutation_p.P404A|PNPLA7_ENST00000371457.1_5'UTR	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	379					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)		GGGGCCGAAGGGTCAGGGTCA	0.647																																																0													23	26	25					9																	140409846		2183	4289	6472	SO:0001583	missense	375775			AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"Patatin-like phospholipase domain containing"	24768	protein-coding gene	gene with protein product		612122	"chromosome 9 open reading frame 111"	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.1135C>G	9.37:g.140409846G>C	ENSP00000277531:p.Pro379Ala		B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Missense_Mutation	SNP	ENST00000277531.4	37	CCDS7045.1	.	.	.	.	.	.	.	.	.	.	g	1.074	-0.669022	0.03403	.	.	ENSG00000130653	ENST00000371446;ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090;ENST00000371450	T;T;T;T	0.57273	3.5;0.41;0.41;0.41	4.53	-1.66	0.08265	.	0.479528	0.20919	N	0.083313	T	0.34483	0.0899	L	0.57536	1.79	0.09310	N	1	B;B;B	0.20671	0.039;0.047;0.011	B;B;B	0.17722	0.016;0.019;0.009	T	0.20806	-1.0264	10	0.07990	T	0.79	0.3579	2.6459	0.04984	0.0946:0.2603:0.3661:0.2791	.	111;404;379	E2QRF8;Q6ZV29-5;Q6ZV29	.;.;PLPL7_HUMAN	A	111;379;404;379;370;404	ENSP00000360501:P111A;ENSP00000277531:P379A;ENSP00000384610:P404A;ENSP00000400582:P370A	ENSP00000277531:P379A	P	-	1	0	PNPLA7	139529667	0.001000	0.12720	0.001000	0.08648	0.493000	0.33554	0.070000	0.14573	0.001000	0.14605	0.437000	0.28790	CCT		0.647	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286		C	140409846	G	C	140409846	3	2	708	1	0	0	0	0	1	0	0	0	12172	1232	43	4	2914	4	PNPLA7	9	140409846	Missense_Mutation	SNP	G	TCGA-KL-8339-01A-11D-2310-10	6902464	140409846	803585	53	39499											
SRGN	5552	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	10	70863802	70863802	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr10:70863802T>C	ENST00000242465.3	+	3	443	c.403T>C	c.(403-405)Tct>Cct	p.S135P	SRGN_ENST00000462445.1_3'UTR	NM_002727.2	NP_002718.2	P10124	SRGN_HUMAN	serglycin	135					biomineral tissue development (GO:0031214)|blood coagulation (GO:0007596)|granzyme-mediated apoptotic signaling pathway (GO:0008626)|maintenance of granzyme B location in T cell secretory granule (GO:0033382)|maintenance of protease location in mast cell secretory granule (GO:0033373)|mast cell secretory granule organization (GO:0033364)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cytokine secretion (GO:0050710)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein processing (GO:0016485)|T cell secretory granule organization (GO:0033371)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|mast cell granule (GO:0042629)|platelet alpha granule lumen (GO:0031093)|zymogen granule (GO:0042588)				large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(3)	7						CAACCTTAGGTCTCTTGACAG	0.463																																																0													105	94	98					10																	70863802		2203	4300	6503	SO:0001583	missense	5552			BC015516	CCDS7285.1	10q22.1	2007-02-16	2007-02-15	2007-02-15	ENSG00000122862	ENSG00000122862		"Proteoglycans / Extracellular Matrix : Other"	9361	protein-coding gene	gene with protein product	"serglycin proteoglycan"	177040	"proteoglycan 1, secretory granule"	PRG, PRG1			Standard	NR_036430		Approved	PPG	uc001joz.3	P10124	OTTHUMG00000018369	ENST00000242465.3:c.403T>C	10.37:g.70863802T>C	ENSP00000242465:p.Ser135Pro		B2R4L7|Q5VW06	Missense_Mutation	SNP	ENST00000242465.3	37	CCDS7285.1	.	.	.	.	.	.	.	.	.	.	T	0.011	-1.716689	0.00706	.	.	ENSG00000122862	ENST00000242465	T	0.47869	0.83	4.71	-2.7	0.06004	.	0.726897	0.12665	N	0.449259	T	0.21145	0.0509	N	0.12502	0.225	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.33317	-0.9873	10	0.02654	T	1	-17.6268	9.7899	0.40699	0.0:0.3672:0.0:0.6328	.	135	P10124	SRGN_HUMAN	P	135	ENSP00000242465:S135P	ENSP00000242465:S135P	S	+	1	0	SRGN	70533808	0.000000	0.05858	0.000000	0.03702	0.376000	0.30014	-1.341000	0.02647	-0.655000	0.05387	0.459000	0.35465	TCT		0.463	SRGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048379.1	NM_002727		C	70863802	T	C	70863802	3	2	708	1	0	0	0	0	1	0	0	0	15153	1667	58	3	413	3	SRGN	10	70863802	Missense_Mutation	SNP	T	TCGA-KL-8339-01A-11D-2310-10		70863802	64670945	54	39500											
FUT11	170384	ucsc.edu;bcgsc.ca	37	10	75532602	75532602	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr10:75532602T>C	ENST00000372841.3	+	1	554	c.511T>C	c.(511-513)Ttc>Ctc	p.F171L	RMRPP1_ENST00000517236.1_RNA|AC022400.2_ENST00000595757.1_5'Flank|FUT11_ENST00000394790.1_Missense_Mutation_p.F171L|FUT11_ENST00000465695.1_3'UTR	NM_173540.2	NP_775811.2	Q495W5	FUT11_HUMAN	fucosyltransferase 11 (alpha (1,3) fucosyltransferase)	171					protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7	Prostate(51;0.0112)					TACCTCCACCTTCAGTCGCCA	0.682																																																0													22	24	24					10																	75532602		2061	4087	6148	SO:0001583	missense	170384			BC036037	CCDS7333.1, CCDS60558.1	10q22.3	2014-01-02			ENSG00000196968	ENSG00000196968		"Fucosyltransferases"	19233	protein-coding gene	gene with protein product						11698403, 24318988	Standard	NM_173540		Approved	MGC33202	uc001jva.3	Q495W5	OTTHUMG00000018483	ENST00000372841.3:c.511T>C	10.37:g.75532602T>C	ENSP00000361932:p.Phe171Leu		Q495W7|Q8IYE4	Missense_Mutation	SNP	ENST00000372841.3	37	CCDS7333.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.422370	0.83559	.	.	ENSG00000196968	ENST00000372841;ENST00000394790	T;T	0.28666	1.6;1.6	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.60379	0.2264	M	0.90425	3.115	0.80722	D	1	D;D;P	0.60160	0.987;0.957;0.693	D;P;P	0.63381	0.914;0.723;0.67	T	0.69580	-0.5107	10	0.66056	D	0.02	-40.4463	14.5265	0.67892	0.0:0.0:0.0:1.0	.	171;171;171	Q495W5;Q495W5-2;B2RC53	FUT11_HUMAN;.;.	L	171	ENSP00000361932:F171L;ENSP00000378270:F171L	ENSP00000361932:F171L	F	+	1	0	FUT11	75202608	1.000000	0.71417	0.998000	0.56505	0.320000	0.28249	7.951000	0.87819	2.040000	0.60383	0.379000	0.24179	TTC		0.682	FUT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048689.1	NM_173540		C	75532602	T	C	75532602	3	2	708	1	0	0	0	0	1	0	0	0	6105	1609	56	3	513	3	FUT11	10	75532602	Missense_Mutation	SNP	T	TCGA-KL-8339-01A-11D-2310-10	4668800	75532602	60002145	55	39501											
OPN4	94233	mdanderson.org;bcgsc.ca	37	10	88423471	88423471	+	Missense_Mutation	SNP	G	G	T			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr10:88423471G>T	ENST00000241891.5	+	9	1477	c.1310G>T	c.(1309-1311)gGg>gTg	p.G437V	OPN4_ENST00000372071.2_Missense_Mutation_p.G448V	NM_033282.3	NP_150598.1	Q9UHM6	OPN4_HUMAN	opsin 4	437					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						CAAGCAAATGGGCGGTCCCTC	0.637																																																0													55	45	48					10																	88423471		2198	4299	6497	SO:0001583	missense	94233			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.1310G>T	10.37:g.88423471G>T	ENSP00000241891:p.Gly437Val		B7ZLB3|Q14D01|Q2PP22|Q8NGQ9	Missense_Mutation	SNP	ENST00000241891.5	37	CCDS7376.1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.238278	0.39598	.	.	ENSG00000122375	ENST00000372071;ENST00000241891;ENST00000443292	T;T;T	0.31510	1.49;1.49;1.49	4.69	2.81	0.32909	.	0.619008	0.15585	N	0.254662	T	0.40015	0.1100	M	0.68317	2.08	0.20403	N	0.999906	D;D;D	0.57571	0.966;0.966;0.98	P;P;P	0.55303	0.598;0.598;0.773	T	0.14980	-1.0453	10	0.42905	T	0.14	.	5.1951	0.15232	0.103:0.0:0.6912:0.2058	.	448;437;448	C9JWU6;Q9UHM6;Q9UHM6-2	.;OPN4_HUMAN;.	V	448;437;448	ENSP00000361141:G448V;ENSP00000241891:G437V;ENSP00000393132:G448V	ENSP00000241891:G437V	G	+	2	0	OPN4	88413451	0.007000	0.16637	0.038000	0.18304	0.004000	0.04260	1.744000	0.38268	1.305000	0.44909	-0.181000	0.13052	GGG		0.637	OPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049158.2	NM_033282		T	88423471	G	T	88423471	3	4	708	1	0	0	0	0	1	0	0	0	10884	1232	43	4	1381	4	OPN4	10	88423471	Missense_Mutation	SNP	G	TCGA-KL-8339-01A-11D-2310-10	12890869	88423471	47111276	56	39502											
TM9SF3	56889	ucsc.edu	37	10	98307653	98307653	+	Splice_Site	SNP	T	T	C			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr10:98307653T>C	ENST00000371142.4	-	8	1269	c.1053A>G	c.(1051-1053)ggA>ggG	p.G351G	TM9SF3_ENST00000490192.1_5'UTR	NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	351						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		GTAAGTTACCTCCTTGTCTAG	0.368																																																0													141	139	140					10																	98307653		2203	4300	6503	SO:0001630	splice_region_variant	56889			AF160213, AF269150	CCDS7450.1	10q24.2	2006-04-12			ENSG00000077147	ENSG00000077147			21529	protein-coding gene	gene with protein product						11530251, 11595169	Standard	NM_020123		Approved	SMBP	uc001kmm.4	Q9HD45	OTTHUMG00000018834	ENST00000371142.4:c.1054+1A>G	10.37:g.98307653T>C			Q5TB57|Q6UWE7|Q9NWL8|Q9P0G9|Q9UHW8	Silent	SNP	ENST00000371142.4	37	CCDS7450.1																																																																																				0.368	TM9SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049610.2	NM_020123	Silent	C	98307653	T	C	98307653	5	2	708	1	0	0	0	0	0	0	1	0	15984	1565	54	3	748	3	TM9SF3	10	98307653	Splice_Site	SNP	T	TCGA-KL-8339-01A-11D-2310-10	9884182	98307653	37227094	57	39503											
ANKRD2	26287	broad.mit.edu;mdanderson.org;bcgsc.ca	37	10	99342111	99342111	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr10:99342111C>T	ENST00000307518.5	+	7	1042	c.775C>T	c.(775-777)Cag>Tag	p.Q259*	ANKRD2_ENST00000298808.5_Intron|HOGA1_ENST00000370646.4_5'Flank|PI4K2A_ENST00000370649.3_5'Flank|HOGA1_ENST00000370647.4_5'Flank|ANKRD2_ENST00000455090.1_Intron|PI4K2A_ENST00000555577.1_5'Flank|ANKRD2_ENST00000370655.1_Nonsense_Mutation_p.Q232*			Q9GZV1	ANKR2_HUMAN	ankyrin repeat domain 2 (stretch responsive muscle)	259					muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|skeletal muscle cell differentiation (GO:0035914)	cytosol (GO:0005829)|euchromatin (GO:0000791)|I band (GO:0031674)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	protein kinase B binding (GO:0043422)|structural constituent of muscle (GO:0008307)			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7		all_hematologic(284;1.95e-06)|Colorectal(252;0.0163)		Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241)		CCGGACAGGGCAGGTGGAGAT	0.612																																																0													58	44	49					10																	99342111		2187	4286	6473	SO:0001587	stop_gained	26287			AJ304805	CCDS7466.1, CCDS44468.1	10q23	2013-01-10			ENSG00000165887	ENSG00000165887		"Ankyrin repeat domain containing"	495	protein-coding gene	gene with protein product		610734				10873377, 15136035, 15677738	Standard	NM_001129981		Approved	ARPP	uc001knw.3	Q9GZV1	OTTHUMG00000018860	ENST00000307518.5:c.775C>T	10.37:g.99342111C>T	ENSP00000306163:p.Gln259*		Q3B778|Q5T456|Q70EZ9|Q8WUD7|Q96MG0|Q9NQC9	Nonsense_Mutation	SNP	ENST00000307518.5	37	CCDS7466.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.852611	0.71719	.	.	ENSG00000165887	ENST00000307518;ENST00000370655	.	.	.	5.6	5.6	0.85130	.	0.494981	0.20990	N	0.082053	.	.	.	.	.	.	0.58432	D	0.999996	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-0.7429	13.9655	0.64207	0.1523:0.8477:0.0:0.0	.	.	.	.	X	259;232	.	ENSP00000306163:Q259X	Q	+	1	0	ANKRD2	99332101	0.573000	0.26676	0.303000	0.25071	0.007000	0.05969	4.842000	0.62831	2.636000	0.89361	0.655000	0.94253	CAG		0.612	ANKRD2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				T	99342111	C	T	99342111	4	4	708	1	0	0	0	0	0	1	0	0	647	711	25	2	801	2	ANKRD2	10	99342111	Nonsense_Mutation	SNP	C	TCGA-KL-8339-01A-11D-2310-10	1034458	99342111	36192636	58	39504											
MUC5B	727897	broad.mit.edu	37	11	1264078	1264079	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr11:1264078_1264079insC	ENST00000529681.1	+	31	6026_6027	c.5968_5969insC	c.(5968-5970)accfs	p.T1990fs	MUC5B_ENST00000447027.1_Frame_Shift_Ins_p.T1993fs|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1990	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)		CTCCCTGGGCACCACCTGGACC	0.629																																																0																																										SO:0001589	frameshift_variant	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.5970dupC	11.37:g.1264080_1264080dupC	ENSP00000436812:p.Thr1990fs		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Frame_Shift_Ins	INS	ENST00000529681.1	37	CCDS44515.2																																																																																				0.629	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		C	1264079	-	C	1264078	7	5	708	1	0	1	1	0	0	0	0	0	9981	159	6	0	6099	0	MUC5B	11	1264078	Frame_Shift_Ins	INS	-	TCGA-KL-8339-01A-11D-2310-10		1264078	133742438	59	39505											
METT5D1	196074	broad.mit.edu;hgsc.bcm.edu	37	11	28232627	28232627	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr11:28232627delT	ENST00000407364.3	+	4	641	c.289delT	c.(289-291)tttfs	p.F97fs	METTL15_ENST00000406787.3_Frame_Shift_Del_p.F97fs|METTL15_ENST00000342303.5_Frame_Shift_Del_p.F97fs|METTL15_ENST00000303459.6_Frame_Shift_Del_p.F97fs			A6NJ78	MET15_HUMAN	methyltransferase like 15	97							methyltransferase activity (GO:0008168)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	14						AGATATGACATTTGGTTCGGG	0.373																																																0													82	76	78					11																	28232627		2202	4298	6500	SO:0001589	frameshift_variant	196074			AL832668	CCDS31450.1, CCDS44559.1, CCDS73269.1	11p14.1	2011-03-02	2011-03-02	2011-03-02	ENSG00000169519	ENSG00000169519			26606	protein-coding gene	gene with protein product			"methyltransferase 5 domain containing 1"	METT5D1		12477932	Standard	NM_152636		Approved	FLJ33979	uc001msh.2	A6NJ78	OTTHUMG00000150448	ENST00000407364.3:c.289delT	11.37:g.28232627delT	ENSP00000384369:p.Phe97fs		A8MRS5|B7WNU2|Q3MHD3|Q8N601|Q8NBA7	Frame_Shift_Del	DEL	ENST00000407364.3	37	CCDS44559.1																																																																																				0.373	METTL15-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318135.2	NM_152636		-	28232627	T	-	28232627	7	5	708	1	0	1	0	1	0	0	0	0	9494	1493	52	0	295	0	METT5D1	11	28232627	Frame_Shift_Del	DEL	T	TCGA-KL-8339-01A-11D-2310-10	26968549	28232627	106773889	60	39506	325	2									
METT5D1	196074	bcgsc.ca	37	11	28232628	28232628	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr11:28232628delT	ENST00000407364.3	+	4	642	c.290delT	c.(289-291)tttfs	p.F97fs	METTL15_ENST00000406787.3_Frame_Shift_Del_p.F97fs|METTL15_ENST00000342303.5_Frame_Shift_Del_p.F97fs|METTL15_ENST00000303459.6_Frame_Shift_Del_p.F97fs			A6NJ78	MET15_HUMAN	methyltransferase like 15	97							methyltransferase activity (GO:0008168)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	14						GATATGACATTTGGTTCGGGA	0.373																																																0													82	76	78					11																	28232628		2202	4298	6500	SO:0001589	frameshift_variant	196074			AL832668	CCDS31450.1, CCDS44559.1, CCDS73269.1	11p14.1	2011-03-02	2011-03-02	2011-03-02	ENSG00000169519	ENSG00000169519			26606	protein-coding gene	gene with protein product			"methyltransferase 5 domain containing 1"	METT5D1		12477932	Standard	NM_152636		Approved	FLJ33979	uc001msh.2	A6NJ78	OTTHUMG00000150448	ENST00000407364.3:c.290delT	11.37:g.28232628delT	ENSP00000384369:p.Phe97fs		A8MRS5|B7WNU2|Q3MHD3|Q8N601|Q8NBA7	Frame_Shift_Del	DEL	ENST00000407364.3	37	CCDS44559.1																																																																																				0.373	METTL15-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318135.2	NM_152636		-	28232628	T	-	28232628	7	5	708	1	0	1	0	1	0	0	0	0	9494	1841	64	0	296	0	METT5D1	11	28232628	Frame_Shift_Del	DEL	T	TCGA-KL-8339-01A-11D-2310-10	1	28232628	106773888	61	39507	325	2									
OR8H2	390151	mdanderson.org	37	11	55872876	55872876	+	Missense_Mutation	SNP	C	C	T	rs2512961	byFrequency	TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr11:55872876C>T	ENST00000313503.1	+	1	358	c.358C>T	c.(358-360)Cat>Tat	p.H120Y		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	120			H -> Y (in dbSNP:rs2512961).			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(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CTCAATGGCCCATGATCGCTA	0.468										HNSCC(53;0.14)			t|||	4805	0.959465	0.9818	0.9553	5008	,	,		20869	0.999		0.9056	False		,,,				2504	0.9468															0								T	TYR/HIS	4276,126	92.5+/-131.2	2075,126,0	190	194	193		358	3.6	1	11	dbSNP_100	193	7895,693	170.4+/-221.6	3635,625,34	no	missense	OR8H2	NM_001005200.1	83	5710,751,34	TT,TC,CC		8.0694,2.8623,6.3048	benign	120/313	55872876	12171,819	2201	4294	6495	SO:0001583	missense	390151			AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"GPCR / Class A : Olfactory receptors"	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.358C>T	11.37:g.55872876C>T	ENSP00000323982:p.His120Tyr		Q6IFC1	Missense_Mutation	SNP	ENST00000313503.1	37	CCDS31518.1	2072	0.9487179487179487	477	0.9695121951219512	343	0.9475138121546961	568	0.993006993006993	684	0.9023746701846965	t	0.004	-2.255890	0.00265	0.971377	0.919306	ENSG00000181767	ENST00000313503	T	0.01323	5.01	3.58	3.58	0.41010	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	N	0.000204	T	0.00012	0.0000	N	0.00010	-3.035	0.58432	P	1.0000000000287557E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.19910	-1.0291	9	0.02654	T	1	.	9.4364	0.38641	0.0:0.0887:0.0:0.9113	rs2512961;rs7109885;rs2512961	120	Q8N162	OR8H2_HUMAN	Y	120	ENSP00000323982:H120Y	ENSP00000323982:H120Y	H	+	1	0	OR8H2	55629452	0.008000	0.16893	0.995000	0.50966	0.016000	0.09150	1.754000	0.38369	0.518000	0.28383	-0.692000	0.03713	CAT		0.468	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200		T	55872876	C	T	55872876	3	4	708	1	0	0	0	0	1	0	0	0	11240	594	21	2	360	2	OR8H2	11	55872876	Missense_Mutation	SNP	C	TCGA-KL-8339-01A-11D-2310-10	27640248	55872876	79133640	62	39508											
OR5M1	390168	mdanderson.org	37	11	56380811	56380811	+	Silent	SNP	T	T	C			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr11:56380811T>C	ENST00000526538.1	-	1	167	c.168A>G	c.(166-168)caA>caG	p.Q56Q		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	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(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						ACATGGGTGTTTGCAGGTGGG	0.453																																																0													181	178	179					11																	56380811		1990	4164	6154	SO:0001819	synonymous_variant	390168			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.168A>G	11.37:g.56380811T>C			Q6IF60|Q96RB6	Silent	SNP	ENST00000526538.1	37	CCDS53631.1																																																																																				0.453	OR5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391610.1	NM_001004740		C	56380811	T	C	56380811	2	2	708	1	0	0	0	0	0	0	0	1	11174	1838	64	3		3	OR5M1	11	56380811	Silent	SNP	T	TCGA-KL-8339-01A-11D-2310-10	507935	56380811	78625705	63	39509											
AASDHPPT	60496	bcgsc.ca	37	11	105950206	105950206	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr11:105950206A>G	ENST00000278618.4	+	2	418	c.196A>G	c.(196-198)Atg>Gtg	p.M66V	KBTBD3_ENST00000534815.1_5'Flank|KBTBD3_ENST00000531837.1_5'Flank|KBTBD3_ENST00000526793.1_5'Flank	NM_015423.2	NP_056238.2	Q9NRN7	ADPPT_HUMAN	aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase	66					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)		TGGTCGTCTGATGATAAGGAA	0.353																																																0													45	43	44					11																	105950206		2201	4299	6500	SO:0001583	missense	60496			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.196A>G	11.37:g.105950206A>G	ENSP00000278618:p.Met66Val		B2R6D1|B4DDW7|Q9C068|Q9P0Q3|Q9UG80|Q9Y389	Missense_Mutation	SNP	ENST00000278618.4	37	CCDS31664.1	.	.	.	.	.	.	.	.	.	.	A	14.09	2.430530	0.43122	.	.	ENSG00000149313	ENST00000533423;ENST00000524411;ENST00000278618	.	.	.	5.91	4.72	0.59763	4&apos (1);-phosphopantetheinyl transferase (1);	0.055781	0.64402	D	0.000001	T	0.37320	0.0999	L	0.39514	1.22	0.39576	D	0.969351	P	0.35821	0.523	B	0.28305	0.088	T	0.43114	-0.9411	9	0.59425	D	0.04	.	7.0036	0.24823	0.6357:0.2457:0.0:0.1186	.	66	Q9NRN7	ADPPT_HUMAN	V	1;1;66	.	ENSP00000278618:M66V	M	+	1	0	AASDHPPT	105455416	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.921000	0.56454	2.254000	0.74563	0.533000	0.62120	ATG		0.353	AASDHPPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388734.1	NM_015423		G	105950206	A	G	105950206	3	3	708	1	0	0	0	0	1	0	0	0	23	333	12	3	202	3	AASDHPPT	11	105950206	Missense_Mutation	SNP	A	TCGA-KL-8339-01A-11D-2310-10	49569395	105950206	29056310	64	39510											
HYLS1	219844	bcgsc.ca	37	11	125770068	125770068	+	Missense_Mutation	SNP	G	G	C			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr11:125770068G>C	ENST00000425380.2	+	3	1586	c.805G>C	c.(805-807)Gag>Cag	p.E269Q	PUS3_ENST00000227474.3_Intron|HYLS1_ENST00000526028.1_Missense_Mutation_p.E269Q|HYLS1_ENST00000356438.3_Missense_Mutation_p.E269Q	NM_001134793.1	NP_001128265.1	Q96M11	HYLS1_HUMAN	hydrolethalus syndrome 1	269						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)		AGTACCAACAGAGAAGAAAAG	0.468																																					Esophageal Squamous(172;2590 2636 8884 10471)											0													89	84	86					11																	125770068		2201	4299	6500	SO:0001583	missense	219844			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.805G>C	11.37:g.125770068G>C	ENSP00000414884:p.Glu269Gln		B3KXI8|Q96BX9	Missense_Mutation	SNP	ENST00000425380.2	37	CCDS8467.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.439812	0.63067	.	.	ENSG00000198331	ENST00000356438;ENST00000425380;ENST00000526028	T;T;T	0.78246	-1.16;-1.16;-1.16	6.02	4.93	0.64822	.	0.231743	0.33895	N	0.004450	T	0.81446	0.4824	L	0.48642	1.525	0.80722	D	1	D	0.61080	0.989	P	0.58266	0.836	T	0.80348	-0.1420	10	0.44086	T	0.13	.	14.9776	0.71286	0.1182:0.0:0.8818:0.0	.	269	Q96M11	HYLS1_HUMAN	Q	269	ENSP00000348815:E269Q;ENSP00000414884:E269Q;ENSP00000436833:E269Q	ENSP00000348815:E269Q	E	+	1	0	HYLS1	125275278	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.606000	0.54095	2.865000	0.98341	0.655000	0.94253	GAG		0.468	HYLS1-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386733.1	NM_145014		C	125770068	G	C	125770068	3	2	708	1	0	0	0	0	1	0	0	0	7471	943	33	4	807	4	HYLS1	11	125770068	Missense_Mutation	SNP	G	TCGA-KL-8339-01A-11D-2310-10	19819862	125770068	9236448	65	39511											
CACNA1C	775	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	12	2794921	2794921	+	Missense_Mutation	SNP	G	G	A	rs200231105	byFrequency	TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr12:2794921G>A	ENST00000347598.4	+	46	5737	c.5737G>A	c.(5737-5739)Gaa>Aaa	p.E1913K	CACNA1C_ENST00000399649.1_Missense_Mutation_p.E1871K|CACNA1C_ENST00000399597.1_Missense_Mutation_p.E1865K|CACNA1C_ENST00000402845.3_Missense_Mutation_p.E1884K|CACNA1C_ENST00000327702.7_Missense_Mutation_p.E1900K|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399621.1_Missense_Mutation_p.E1884K|CACNA1C_ENST00000399595.1_Missense_Mutation_p.E1873K|CACNA1C_ENST00000399591.1_Missense_Mutation_p.E1873K|CACNA1C_ENST00000399601.1_Missense_Mutation_p.E1865K|CACNA1C_ENST00000399603.1_Missense_Mutation_p.E1865K|CACNA1C_ENST00000399606.1_Missense_Mutation_p.E1885K|CACNA1C_ENST00000399637.1_Missense_Mutation_p.E1884K|CACNA1C_ENST00000344100.3_Missense_Mutation_p.E1906K|CACNA1C_ENST00000399655.1_Missense_Mutation_p.E1865K|CACNA1C_ENST00000406454.3_Missense_Mutation_p.E1936K|CACNA1C_ENST00000399641.1_Missense_Mutation_p.E1865K|CACNA1C_ENST00000399617.1_Missense_Mutation_p.E1900K|CACNA1C_ENST00000399629.1_Missense_Mutation_p.E1882K|CACNA1C_ENST00000399634.1_Missense_Mutation_p.E1936K|CACNA1C_ENST00000335762.5_Missense_Mutation_p.E1890K|CACNA1C_ENST00000399644.1_Missense_Mutation_p.E1865K|CACNA1C_ENST00000399638.1_Missense_Mutation_p.E1893K	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1948					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.E1913K(2)|p.E1906K(2)|p.E1978K(2)|p.E1900K(2)|p.E1400K(2)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CCAGGATGACGAAAATCGGCA	0.592																																																10	Substitution - Missense(10)	kidney(5)|endometrium(5)											47	48	48					12																	2794921		2013	4164	6177	SO:0001583	missense	775			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.5737G>A	12.37:g.2794921G>A	ENSP00000266376:p.Glu1913Lys		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.988512	0.53934	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39	4.26	3.35	0.38373	.	1.675690	0.03914	N	0.282339	T	0.64427	0.2597	L	0.39633	1.23	0.24214	N	0.99546	P;D;P;B;D;P;P;D;B;B;D;P;P;B;P;B;P;B;D;P;P;D;D;P;P	0.76494	0.801;0.999;0.941;0.097;0.999;0.921;0.953;0.961;0.11;0.33;0.978;0.941;0.757;0.432;0.902;0.306;0.757;0.062;0.978;0.588;0.769;0.961;0.961;0.882;0.941	B;P;B;B;D;B;B;P;B;B;P;B;B;B;B;B;B;B;P;B;B;P;P;B;B	0.78314	0.21;0.858;0.304;0.03;0.991;0.308;0.378;0.485;0.04;0.071;0.485;0.304;0.122;0.099;0.114;0.033;0.122;0.024;0.485;0.172;0.172;0.485;0.485;0.172;0.304	T	0.56056	-0.8042	10	0.07030	T	0.85	.	14.0749	0.64885	0.0:0.1521:0.8479:0.0	.	556;1906;1862;1948;1900;1884;1865;1882;1893;1865;1885;1865;1896;1913;1865;1900;1936;1873;1871;1873;1854;1884;1884;1865;1865	B7Z7Z5;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	K	1890;1865;1865;1893;1865;1884;1884;1873;1865;1913;1885;1865;1906;1882;1900;1871;1884;1865;1936;1900;1936;1873;1766	ENSP00000336982:E1890K;ENSP00000382563:E1865K;ENSP00000382552:E1865K;ENSP00000382547:E1893K;ENSP00000382506:E1865K;ENSP00000382530:E1884K;ENSP00000382546:E1884K;ENSP00000382500:E1873K;ENSP00000382549:E1865K;ENSP00000266376:E1913K;ENSP00000382515:E1885K;ENSP00000382510:E1865K;ENSP00000341092:E1906K;ENSP00000382537:E1882K;ENSP00000329877:E1900K;ENSP00000382557:E1871K;ENSP00000385724:E1884K;ENSP00000382512:E1865K;ENSP00000382542:E1936K;ENSP00000382526:E1900K;ENSP00000385896:E1936K;ENSP00000382504:E1873K	ENSP00000323129:E1766K	E	+	1	0	CACNA1C	2665182	1.000000	0.71417	0.943000	0.38184	0.802000	0.45316	5.486000	0.66856	0.981000	0.38548	0.449000	0.29647	GAA		0.592	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		A	2794921	G	A	2794921	3	1	708	1	0	0	0	0	1	0	0	0	2542	1059	37	1	6476	1	CACNA1C	12	2794921	Missense_Mutation	SNP	G	TCGA-KL-8339-01A-11D-2310-10		2794921	131056974	66	39512											
FKBP4	2288	mdanderson.org;bcgsc.ca	37	12	2907983	2907983	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr12:2907983A>G	ENST00000001008.4	+	4	692	c.505A>G	c.(505-507)Atc>Gtc	p.I169V	RP4-816N1.7_ENST00000547042.1_RNA|RP4-816N1.6_ENST00000547834.1_RNA	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	FK506 binding protein 4, 59kDa	169	PPIase FKBP-type 2. {ECO:0000255|PROSITE- ProRule:PRU00277}.				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)			TGAGGGTGCTATCGTGGAGGG	0.493																																																0													100	88	92					12																	2907983		2203	4300	6503	SO:0001583	missense	2288			M88279	CCDS8512.1	12p13.33	2013-01-10	2002-08-29		ENSG00000004478	ENSG00000004478		"Tetratricopeptide (TTC) repeat domain containing"	3720	protein-coding gene	gene with protein product		600611	"FK506-binding protein 4 (59kD)"			1279700	Standard	NM_002014		Approved	FKBP59, FKBP52	uc001qkz.3	Q02790	OTTHUMG00000090429	ENST00000001008.4:c.505A>G	12.37:g.2907983A>G	ENSP00000001008:p.Ile169Val		D3DUQ1|Q9UCP1|Q9UCV7	Missense_Mutation	SNP	ENST00000001008.4	37	CCDS8512.1	.	.	.	.	.	.	.	.	.	.	A	5.452	0.268424	0.10349	.	.	ENSG00000004478	ENST00000001008	D	0.85258	-1.96	5.08	-4.03	0.04021	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	1.031610	0.07658	N	0.933160	T	0.63462	0.2513	N	0.04355	-0.22	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.53078	-0.8489	10	0.09590	T	0.72	0.0032	9.1629	0.37035	0.2291:0.5673:0.2036:0.0	.	169	Q02790	FKBP4_HUMAN	V	169	ENSP00000001008:I169V	ENSP00000001008:I169V	I	+	1	0	FKBP4	2778244	0.000000	0.05858	0.002000	0.10522	0.139000	0.21198	-0.714000	0.05002	-1.127000	0.02925	-0.468000	0.05107	ATC		0.493	FKBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206861.1			G	2907983	A	G	2907983	3	3	708	1	0	0	0	0	1	0	0	0	5912	449	16	3	519	3	FKBP4	12	2907983	Missense_Mutation	SNP	A	TCGA-KL-8339-01A-11D-2310-10	113062	2907983	130943912	67	39513											
MED21	9412	broad.mit.edu;mdanderson.org;bcgsc.ca	37	12	27179446	27179446	+	Missense_Mutation	SNP	C	C	A			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr12:27179446C>A	ENST00000282892.3	+	2	166	c.136C>A	c.(136-138)Cag>Aag	p.Q46K	MED21_ENST00000546323.1_Missense_Mutation_p.Q46K|MED21_ENST00000536503.1_Intron	NM_001271811.1|NM_004264.3	NP_001258740.1|NP_004255.2	Q13503	MED21_HUMAN	mediator complex subunit 21	46					blastocyst development (GO:0001824)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	mediator complex (GO:0016592)	DNA-directed RNA polymerase activity (GO:0003899)|transcription coactivator activity (GO:0003713)					Colorectal(261;0.0847)					TAACAAAGACCAGCCAGCTAA	0.373																																																0													120	106	111					12																	27179446		2203	4300	6503	SO:0001583	missense	9412			U46837	CCDS8711.1	12p12	2007-07-30	2007-07-30	2007-07-30		ENSG00000152944			11473	protein-coding gene	gene with protein product		603800	"SRB7 (suppressor of RNA polymerase B, yeast) homolog", "SRB7 suppressor of RNA polymerase B homolog (yeast)"	SURB7		8598913	Standard	NM_004264		Approved	SRB7	uc001rhp.2	Q13503		ENST00000282892.3:c.136C>A	12.37:g.27179446C>A	ENSP00000282892:p.Gln46Lys		B2R4I3|Q6IB05|Q92811	Missense_Mutation	SNP	ENST00000282892.3	37	CCDS8711.1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.624150	0.46840	.	.	ENSG00000152944	ENST00000546323;ENST00000282892	.	.	.	4.99	4.99	0.66335	.	0.056410	0.64402	D	0.000001	T	0.48874	0.1524	L	0.44542	1.39	0.80722	D	1	P	0.34462	0.454	B	0.34652	0.187	T	0.45585	-0.9251	9	0.06236	T	0.91	-25.0929	18.762	0.91855	0.0:1.0:0.0:0.0	.	46	Q13503	MED21_HUMAN	K	46	.	ENSP00000282892:Q46K	Q	+	1	0	MED21	27070713	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.995000	0.76257	2.708000	0.92522	0.585000	0.79938	CAG		0.373	MED21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403262.1	NM_004264		A	27179446	C	A	27179446	3	1	708	1	0	0	0	0	1	0	0	0	9441	595	21	4	142	4	MED21	12	27179446	Missense_Mutation	SNP	C	TCGA-KL-8339-01A-11D-2310-10	24271463	27179446	106672449	68	39514											
PDZRN4	29951	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	41967467	41967467	+	Missense_Mutation	SNP	C	C	A			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr12:41967467C>A	ENST00000402685.2	+	10	2894	c.2886C>A	c.(2884-2886)ttC>ttA	p.F962L	PDZRN4_ENST00000298919.7_Missense_Mutation_p.F702L|PDZRN4_ENST00000539469.2_Missense_Mutation_p.F704L	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	962							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GCCGTGAGTTCATGATGCGAA	0.517																																																0													75	70	71					12																	41967467		2203	4300	6503	SO:0001583	missense	29951			AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"RING-type (C3HC4) zinc fingers"	30552	protein-coding gene	gene with protein product	"similar to semaF cytoplasmic domain associated protein 3"	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.2886C>A	12.37:g.41967467C>A	ENSP00000384197:p.Phe962Leu		Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.825721	0.32237	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.39229	1.09;1.09;1.09	4.9	4.9	0.64082	.	0.067180	0.64402	D	0.000007	T	0.41213	0.1149	L	0.35487	1.065	0.58432	D	0.999999	P;B;B	0.46220	0.874;0.045;0.045	P;B;B	0.45119	0.47;0.061;0.075	T	0.32824	-0.9892	10	0.49607	T	0.09	-20.3562	18.9769	0.92740	0.0:1.0:0.0:0.0	.	962;702;704	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	L	962;704;702	ENSP00000384197:F962L;ENSP00000439990:F704L;ENSP00000298919:F702L	ENSP00000298919:F702L	F	+	3	2	PDZRN4	40253734	1.000000	0.71417	1.000000	0.80357	0.358000	0.29455	3.234000	0.51320	2.656000	0.90262	0.557000	0.71058	TTC		0.517	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		A	41967467	C	A	41967467	3	1	708	1	0	0	0	0	1	0	0	0	11712	825	29	4	2997	4	PDZRN4	12	41967467	Missense_Mutation	SNP	C	TCGA-KL-8339-01A-11D-2310-10	14788021	41967467	91884428	69	39515											
KRT1	3848	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	53073958	53073958	+	Missense_Mutation	SNP	C	C	G			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr12:53073958C>G	ENST00000252244.3	-	1	233	c.175G>C	c.(175-177)Ggt>Cgt	p.G59R		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	59	Gly/Phe/Ser-rich.|Head.				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						AATccaccaccagcaccaaag	0.557																																																0													153	152	153					12																	53073958		2202	4300	6502	SO:0001583	missense	3848			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.175G>C	12.37:g.53073958C>G	ENSP00000252244:p.Gly59Arg		B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Missense_Mutation	SNP	ENST00000252244.3	37	CCDS8836.1	.	.	.	.	.	.	.	.	.	.	C	3.038	-0.198146	0.06219	.	.	ENSG00000167768	ENST00000252244	D	0.96073	-3.9	3.52	1.64	0.23874	.	.	.	.	.	D	0.94235	0.8149	L	0.59436	1.845	0.25709	N	0.9855	D	0.54047	0.964	P	0.52672	0.706	D	0.86298	0.1678	9	0.24483	T	0.36	.	5.6488	0.17604	0.0:0.739:0.0:0.261	.	59	P04264	K2C1_HUMAN	R	59	ENSP00000252244:G59R	ENSP00000252244:G59R	G	-	1	0	KRT1	51360225	0.000000	0.05858	0.355000	0.25773	0.381000	0.30169	-0.526000	0.06207	0.318000	0.23185	0.491000	0.48974	GGT		0.557	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405706.1	NM_006121		G	53073958	C	G	53073958	3	3	708	1	0	0	0	0	1	0	0	0	8449	594	21	4	1795	4	KRT1	12	53073958	Missense_Mutation	SNP	C	TCGA-KL-8339-01A-11D-2310-10	11106491	53073958	80777937	70	39516											
RASAL1	8437	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	113543595	113543595	+	Missense_Mutation	SNP	G	G	A	rs149732792		TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr12:113543595G>A	ENST00000261729.5	-	17	2066	c.1751C>T	c.(1750-1752)aCg>aTg	p.T584M	RASAL1_ENST00000446861.3_Missense_Mutation_p.T584M|RASAL1_ENST00000546530.1_Missense_Mutation_p.T586M|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000548055.1_Missense_Mutation_p.T585M			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	584	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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						GGCAAAGCGCGTGGCCAGGCC	0.627													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20842	0.0		0.0	False		,,,				2504	0.0															0								G	MET/THR,MET/THR,MET/THR	2,4404	4.2+/-10.8	0,2,2201	65	69	68		1757,1751,1751	5.4	0.5	12	dbSNP_134	68	0,8600		0,0,4300	no	missense,missense,missense	RASAL1	NM_001193520.1,NM_001193521.1,NM_004658.2	81,81,81	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging,possibly-damaging,possibly-damaging	586/807,584/777,584/805	113543595	2,13004	2203	4300	6503	SO:0001583	missense	8437			AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"Pleckstrin homology (PH) domain containing"	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.1751C>T	12.37:g.113543595G>A	ENSP00000261729:p.Thr584Met		B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Missense_Mutation	SNP	ENST00000261729.5	37	CCDS9165.1	.	.	.	.	.	.	.	.	.	.	G	12.02	1.811715	0.32053	4.54E-4	0.0	ENSG00000111344	ENST00000546530;ENST00000261729;ENST00000446861;ENST00000548055	T;T;T;T	0.17370	2.28;2.28;2.28;2.28	5.36	5.36	0.76844	Rho GTPase activation protein (1);Pleckstrin homology-type (1);Pleckstrin homology domain (3);Ras GTPase-activating protein (1);	0.653207	0.16178	N	0.225974	T	0.22044	0.0531	N	0.21373	0.66	0.09310	N	0.999999	D;D;D;B;B;D	0.58970	0.982;0.98;0.984;0.132;0.16;0.98	P;P;P;B;B;P	0.54544	0.755;0.641;0.755;0.017;0.029;0.641	T	0.21245	-1.0251	10	0.16420	T	0.52	.	17.8471	0.88733	0.0:0.0:1.0:0.0	.	585;585;598;586;584;584	B4DG06;F8VRH9;Q59H24;F8VQX1;O95294;O95294-2	.;.;.;.;RASL1_HUMAN;.	M	586;584;584;585	ENSP00000450244:T586M;ENSP00000261729:T584M;ENSP00000395920:T584M;ENSP00000448510:T585M	ENSP00000261729:T584M	T	-	2	0	RASAL1	112027978	1.000000	0.71417	0.484000	0.27391	0.791000	0.44710	5.909000	0.69923	2.517000	0.84864	0.455000	0.32223	ACG		0.627	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	NM_004658		A	113543595	G	A	113543595	3	1	708	1	0	0	0	0	1	0	0	0	13069	1145	40	1	687	1	RASAL1	12	113543595	Missense_Mutation	SNP	G	TCGA-KL-8339-01A-11D-2310-10	60469637	113543595	20308300	71	39517											
ZMYM5	9205	bcgsc.ca	37	13	20426145	20426145	+	Missense_Mutation	SNP	T	T	A			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr13:20426145T>A	ENST00000337963.4	-	3	440	c.176A>T	c.(175-177)gAt>gTt	p.D59V	ZMYM5_ENST00000382905.4_Missense_Mutation_p.D59V|ZMYM5_ENST00000382907.4_Missense_Mutation_p.D59V	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	59	Poly-Asp.					nucleus (GO:0005634)	zinc ion binding (GO:0008270)			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		AAACACAAcatcatcatcatc	0.378																																																0													100	96	98					13																	20426145		2203	4300	6503	SO:0001583	missense	9205			AF161535	CCDS31942.1, CCDS31943.1	13q12	2013-01-08	2005-09-12	2005-09-12	ENSG00000132950	ENSG00000132950		"Zinc fingers, MYM type"	13029	protein-coding gene	gene with protein product			"zinc finger protein 237"	ZNF237			Standard	NM_001039650		Approved	ZNF198L1, MYM	uc010tcn.1	Q9UJ78	OTTHUMG00000016504	ENST00000337963.4:c.176A>T	13.37:g.20426145T>A	ENSP00000337034:p.Asp59Val		B2R6V1|Q5T6E1|Q5T6E2|Q5T6E4|Q96IY6|Q9NZY5|Q9UBW0|Q9UJ77	Missense_Mutation	SNP	ENST00000337963.4	37		.	.	.	.	.	.	.	.	.	.	T	10.24	1.296635	0.23650	.	.	ENSG00000132950	ENST00000337963;ENST00000502168;ENST00000382907;ENST00000382905	T;T;T;T	0.33654	1.4;1.4;1.4;1.4	0.575	0.575	0.17374	.	.	.	.	.	T	0.54727	0.1876	M	0.73598	2.24	0.25900	N	0.983367	D;D;D	0.89917	0.994;1.0;0.999	D;D;D	0.87578	0.99;0.998;0.996	T	0.39057	-0.9632	8	0.49607	T	0.09	-11.1414	.	.	.	.	59;59;59	Q9UJ78;Q9UJ78-2;Q9UJ78-1	ZMYM5_HUMAN;.;.	V	59;49;59;59	ENSP00000337034:D59V;ENSP00000445779:D49V;ENSP00000372364:D59V;ENSP00000372361:D59V	ENSP00000337034:D59V	D	-	2	0	ZMYM5	19324145	0.999000	0.42202	0.998000	0.56505	0.918000	0.54935	0.221000	0.17680	0.554000	0.29061	0.219000	0.17774	GAT		0.378	ZMYM5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014242		A	20426145	T	A	20426145	3	1	708	1	0	0	0	0	1	0	0	0	17708	1435	50	5	1968	5	ZMYM5	13	20426145	Missense_Mutation	SNP	T	TCGA-KL-8339-01A-11D-2310-10		20426145	94743733	72	39518											
DIAPH3	81624	broad.mit.edu;mdanderson.org;bcgsc.ca	37	13	60240728	60240728	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr13:60240728C>T	ENST00000400324.4	-	28	3792	c.3572G>A	c.(3571-3573)cGa>cAa	p.R1191Q	DIAPH3_ENST00000400319.1_Missense_Mutation_p.R1121Q|DIAPH3_ENST00000377908.2_Missense_Mutation_p.R1180Q|DIAPH3_ENST00000400330.1_Missense_Mutation_p.R1191Q|DIAPH3_ENST00000400320.1_Missense_Mutation_p.R1145Q	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	1191					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)		TTATAAAGCTCGTAATCTTGC	0.323																																																0													62	59	60					13																	60240728		1798	4064	5862	SO:0001583	missense	81624			AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"diaphanous (Drosophila, homolog) 3", "auditory neuropathy, autosomal dominant 1", "diaphanous homolog 3 (Drosophila)"	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.3572G>A	13.37:g.60240728C>T	ENSP00000383178:p.Arg1191Gln		A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Missense_Mutation	SNP	ENST00000400324.4	37	CCDS41898.1	.	.	.	.	.	.	.	.	.	.	C	19.51	3.841641	0.71488	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000400329;ENST00000377908;ENST00000400319;ENST00000400320	D;D;D;D;D	0.82803	-1.63;-1.63;-1.65;-1.6;-1.59	5.55	4.7	0.59300	.	1.783920	0.04654	U	0.407671	D	0.87442	0.6178	N	0.24115	0.695	0.28433	N	0.917184	D	0.89917	1.0	D	0.79108	0.992	T	0.78945	-0.2004	10	0.87932	D	0	.	14.7908	0.69841	0.0:0.9292:0.0:0.0708	.	1191	Q9NSV4	DIAP3_HUMAN	Q	1191;1191;1180;1145;1121;1180;1121;1145	ENSP00000383178:R1191Q;ENSP00000383184:R1191Q;ENSP00000367141:R1180Q;ENSP00000383173:R1121Q;ENSP00000383174:R1145Q	ENSP00000367141:R1180Q	R	-	2	0	DIAPH3	59138729	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.392000	0.59659	2.602000	0.87976	0.655000	0.94253	CGA		0.323	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517		T	60240728	C	T	60240728	3	4	708	1	0	0	0	0	1	0	0	0	4522	884	31	1	13	1	DIAPH3	13	60240728	Missense_Mutation	SNP	C	TCGA-KL-8339-01A-11D-2310-10	39814583	60240728	54929150	73	39519											
PABPN1	8106	hgsc.bcm.edu	37	14	23790864	23790864	+	Silent	SNP	G	G	A	rs188436762	byFrequency	TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr14:23790864G>A	ENST00000216727.4	+	1	367	c.186G>A	c.(184-186)ctG>ctA	p.L62L	PABPN1_ENST00000557702.1_5'Flank|PABPN1_ENST00000397276.2_Silent_p.L62L|PABPN1_ENST00000556821.1_5'UTR|BCL2L2-PABPN1_ENST00000553781.1_Intron|BCL2L2-PABPN1_ENST00000557008.1_Intron|AL049829.1_ENST00000594872.1_Missense_Mutation_p.P85L	NM_004643.3	NP_004634.1	Q86U42	PABP2_HUMAN	poly(A) binding protein, nuclear 1	62	Interacts with SKIP.				gene expression (GO:0010467)|modification by virus of host mRNA processing (GO:0046778)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|muscle contraction (GO:0006936)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)|viral life cycle (GO:0019058)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			large_intestine(1)|lung(1)|ovary(2)	4	all_cancers(95;6.69e-06)			GBM - Glioblastoma multiforme(265;0.00643)		AGCTGCTGCTGGAGCCCGAGC	0.801													G|||	74	0.0147764	0.0	0.0058	5008	,	,		4069	0.0		0.0219	False		,,,				2504	0.0491															0								G	,	7,2789		0,7,1391	2	2	2		,186	1.7	1	14		2	49,5451		0,49,2701	no	intron,coding-synonymous	PABPN1,BCL2L2-PABPN1	NM_001199864.1,NM_004643.3	,	0,56,4092	AA,AG,GG		0.8909,0.2504,0.675	,	,62/307	23790864	56,8240	1398	2750	4148	SO:0001819	synonymous_variant	8106			AF026029	CCDS9592.1	14q11.2	2013-02-12	2001-11-28		ENSG00000100836	ENSG00000100836		"RNA binding motif (RRM) containing"	8565	protein-coding gene	gene with protein product		602279	"poly(A)-binding protein, nuclear 1"	OPMD, PABP2		7795598	Standard	NM_004643		Approved	PAB2		Q86U42	OTTHUMG00000028739	ENST00000216727.4:c.186G>A	14.37:g.23790864G>A			D3DS49|O43484	Silent	SNP	ENST00000216727.4	37	CCDS9592.1																																																																																				0.801	PABPN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071767.4	NM_004643		A	23790864	G	A	23790864	2	1	708	1	0	0	0	0	0	0	0	1	11370	1335	47	2		2	PABPN1	14	23790864	Silent	SNP	G	TCGA-KL-8339-01A-11D-2310-10		23790864	83558676	74	39520											
ADCY4	196883	hgsc.bcm.edu;mdanderson.org	37	14	24788628	24788628	+	Silent	SNP	G	G	T			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr14:24788628G>T	ENST00000310677.4	-	23	2861	c.2748C>A	c.(2746-2748)ccC>ccA	p.P916P	ADCY4_ENST00000554068.2_Silent_p.P916P|ADCY4_ENST00000418030.2_Silent_p.P916P	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	916					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)		CACTGAACTTGGGCTTGGAGA	0.547																																																0													153	128	136					14																	24788628		2203	4300	6503	SO:0001819	synonymous_variant	196883			AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"Adenylate cyclases"	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.2748C>A	14.37:g.24788628G>T			B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Silent	SNP	ENST00000310677.4	37	CCDS9627.1																																																																																				0.547	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			T	24788628	G	T	24788628	2	4	708	1	0	0	0	0	0	0	0	1	296	1335	47	4		4	ADCY4	14	24788628	Silent	SNP	G	TCGA-KL-8339-01A-11D-2310-10	997764	24788628	82560912	75	39521											
WDR72	256764	ucsc.edu;mdanderson.org;bcgsc.ca	37	15	53908269	53908269	+	Missense_Mutation	SNP	C	C	A			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr15:53908269C>A	ENST00000396328.1	-	15	2373	c.2134G>T	c.(2134-2136)Gtc>Ttc	p.V712F	WDR72_ENST00000557913.1_Missense_Mutation_p.V709F|WDR72_ENST00000360509.5_Missense_Mutation_p.V712F|WDR72_ENST00000559418.1_Missense_Mutation_p.V722F	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	712										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)		CTTCTCAGGACCTCACCACCA	0.448																																																0													103	90	95					15																	53908269		2194	4293	6487	SO:0001583	missense	256764			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.2134G>T	15.37:g.53908269C>A	ENSP00000379619:p.Val712Phe		Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	C	4.185	0.032979	0.08101	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.35236	1.32;1.32	5.63	0.289	0.15723	.	0.547874	0.18921	N	0.127463	T	0.10594	0.0259	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19549	-1.0302	10	0.10111	T	0.7	.	1.2131	0.01908	0.1372:0.2327:0.1424:0.4877	.	712	Q3MJ13	WDR72_HUMAN	F	712	ENSP00000379619:V712F;ENSP00000353699:V712F	ENSP00000353699:V712F	V	-	1	0	WDR72	51695561	0.371000	0.25056	0.248000	0.24265	0.239000	0.25481	0.442000	0.21628	0.070000	0.16634	-0.471000	0.05019	GTC		0.448	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		A	53908269	C	A	53908269	3	1	708	1	0	0	0	0	1	0	0	0	17327	507	18	4	1198	4	WDR72	15	53908269	Missense_Mutation	SNP	C	TCGA-KL-8339-01A-11D-2310-10		53908269	48623123	76	39522											
CD276	80381	broad.mit.edu;mdanderson.org	37	15	73996604	73996604	+	Missense_Mutation	SNP	G	G	A	rs150186392	byFrequency	TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr15:73996604G>A	ENST00000318443.5	+	6	1462	c.1160G>A	c.(1159-1161)cGg>cAg	p.R387Q	CD276_ENST00000318424.5_Missense_Mutation_p.R169Q|CD276_ENST00000564751.1_Missense_Mutation_p.R169Q|CD276_ENST00000561213.1_Missense_Mutation_p.R387Q|CD276_ENST00000537340.2_Missense_Mutation_p.R241Q	NM_001024736.1	NP_001019907.1	Q5ZPR3	CD276_HUMAN	CD276 molecule	387	Ig-like C2-type 2.			R -> Q (in Ref. 3; AAQ88709). {ECO:0000305}.	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)	p.R387Q(1)		endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						TCCAGCTACCGGGGCTACCCT	0.637													G|||	8	0.00159744	0.0023	0.0014	5008	,	,		21293	0.001		0.003	False		,,,				2504	0.0															1	Substitution - Missense(1)	lung(1)											97	88	91					15																	73996604		2198	4297	6495	SO:0001583	missense	80381			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.1160G>A	15.37:g.73996604G>A	ENSP00000320084:p.Arg387Gln		Q6P5Y4|Q6UXI2|Q8NBI8|Q8NC34|Q8NCB6|Q9BXR1	Missense_Mutation	SNP	ENST00000318443.5	37	CCDS32288.1	.	.	.	.	.	.	.	.	.	.	G	9.790	1.177721	0.21787	.	.	ENSG00000103855	ENST00000318424;ENST00000318443;ENST00000379823;ENST00000537340	T;T;T	0.16897	2.31;2.31;2.31	4.28	2.34	0.29019	Immunoglobulin subtype (1);CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.430418	0.25130	N	0.032914	T	0.06280	0.0162	N	0.04724	-0.175	0.22531	N	0.999014	B;B;B;B	0.31435	0.073;0.001;0.323;0.276	B;B;B;B	0.25140	0.024;0.002;0.058;0.026	T	0.23797	-1.0178	10	0.62326	D	0.03	-14.0859	3.2429	0.06787	0.3219:0.2114:0.4667:0.0	.	333;169;387;387	B4DK26;Q5ZPR3-2;Q5ZPR3;Q5ZPR3-4	.;.;CD276_HUMAN;.	Q	169;387;387;241	ENSP00000320058:R169Q;ENSP00000320084:R387Q;ENSP00000441087:R241Q	ENSP00000320058:R169Q	R	+	2	0	CD276	71783657	0.984000	0.35163	1.000000	0.80357	0.996000	0.88848	2.125000	0.42016	0.774000	0.33427	0.456000	0.33151	CGG		0.637	CD276-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268979.1	NM_025240		A	73996604	G	A	73996604	3	1	708	1	0	0	0	0	1	0	0	0	2994	1116	39	1	1178	1	CD276	15	73996604	Missense_Mutation	SNP	G	TCGA-KL-8339-01A-11D-2310-10	20088335	73996604	28534788	77	39523											
IL32	9235	broad.mit.edu	37	16	3119142	3119142	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr16:3119142G>A	ENST00000534507.1	+	6	702	c.491G>A	c.(490-492)cGg>cAg	p.R164Q	IL32_ENST00000325568.5_Missense_Mutation_p.R118Q|IL32_ENST00000528163.2_Missense_Mutation_p.R118Q|IL32_ENST00000529699.1_Missense_Mutation_p.R98Q|IL32_ENST00000533097.2_Missense_Mutation_p.R118Q|IL32_ENST00000549213.1_Intron|IL32_ENST00000530890.1_Missense_Mutation_p.R98Q|RNU1-125P_ENST00000516752.1_RNA|IL32_ENST00000396890.2_Missense_Mutation_p.R164Q|IL32_ENST00000548476.1_Missense_Mutation_p.R164Q|IL32_ENST00000548246.1_Missense_Mutation_p.R78Q|IL32_ENST00000531965.1_Missense_Mutation_p.R108Q|IL32_ENST00000551122.1_Intron|IL32_ENST00000552664.1_Missense_Mutation_p.R118Q|IL32_ENST00000396887.3_Intron|IL32_ENST00000530538.2_Missense_Mutation_p.R118Q|IL32_ENST00000548652.1_Missense_Mutation_p.R109Q|IL32_ENST00000552356.1_Missense_Mutation_p.R98Q|IL32_ENST00000526464.2_Missense_Mutation_p.R118Q|IL32_ENST00000444393.3_Missense_Mutation_p.R118Q|IL32_ENST00000529550.1_Missense_Mutation_p.R118Q|IL32_ENST00000525643.2_Missense_Mutation_p.R118Q|IL32_ENST00000551513.1_Missense_Mutation_p.R155Q|IL32_ENST00000440815.3_Missense_Mutation_p.R118Q|IL32_ENST00000382213.3_Missense_Mutation_p.R109Q|IL32_ENST00000008180.9_Missense_Mutation_p.R98Q|IL32_ENST00000552936.1_Missense_Mutation_p.R142Q			P24001	IL32_HUMAN	interleukin 32	164					cell adhesion (GO:0007155)|defense response (GO:0006952)|immune response (GO:0006955)	extracellular space (GO:0005615)|membrane (GO:0016020)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						ATGCTGCAGCGGCTGCAGACC	0.602																																																0													14	17	16					16																	3119142		2187	4273	6460	SO:0001583	missense	9235			M59807	CCDS32377.1, CCDS32378.1, CCDS32379.1, CCDS45394.1	16p13.3	2011-07-21			ENSG00000008517	ENSG00000008517		"Interleukins and interleukin receptors"	16830	protein-coding gene	gene with protein product	"natural killer cell transcript 4"	606001				1729377, 9653642	Standard	XM_005255686		Approved	NK4, TAIF, TAIFb, TAIFd	uc002ctn.3	P24001	OTTHUMG00000167498	ENST00000534507.1:c.491G>A	16.37:g.3119142G>A	ENSP00000431775:p.Arg164Gln		A6NNM0|A8MPX0|B4DJM1|B8Q191|D3DUB0|D3DUB2|Q5VFH7|Q5VFH8|Q8WV38|Q96GK9	Missense_Mutation	SNP	ENST00000534507.1	37		.	.	.	.	.	.	.	.	.	.	G	12.54	1.967547	0.34754	.	.	ENSG00000008517	ENST00000325568;ENST00000534507;ENST00000531965;ENST00000529699;ENST00000526464;ENST00000440815;ENST00000529550;ENST00000525643;ENST00000548807;ENST00000528163;ENST00000530890;ENST00000444393;ENST00000533097;ENST00000008180;ENST00000396890;ENST00000525228;ENST00000548652;ENST00000530538;ENST00000552936;ENST00000548476;ENST00000552664;ENST00000552356;ENST00000551513;ENST00000382213;ENST00000548246	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	0.73047	-0.71;0.84;0.84;0.84;-0.71;-0.71;-0.71;-0.71;0.84;-0.71;0.84;-0.71;-0.71;0.84;0.84;-0.71;-0.71;-0.71;0.84;0.84;-0.71;0.84;0.84;-0.71;0.84	1.89	-1.81	0.07882	.	.	.	.	.	T	0.50718	0.1632	N	0.14661	0.345	0.09310	N	1	P;P;P;P;P;P	0.41188	0.741;0.741;0.741;0.741;0.555;0.741	B;B;B;B;B;B	0.42916	0.312;0.402;0.402;0.312;0.116;0.402	T	0.43475	-0.9389	9	0.39692	T	0.17	.	5.3676	0.16123	0.5537:0.0:0.4463:0.0	.	78;98;109;98;164;118	B8Q191;C6GKH1;A6NNM0;A8MPX0;P24001;P24001-2	.;.;.;.;IL32_HUMAN;.	Q	118;164;108;98;118;118;118;118;164;118;98;118;118;98;164;89;109;118;142;164;118;98;155;109;78	ENSP00000324742:R118Q;ENSP00000431775:R164Q;ENSP00000433177:R108Q;ENSP00000436937:R98Q;ENSP00000450364:R118Q;ENSP00000405063:R118Q;ENSP00000437020:R118Q;ENSP00000432218:R118Q;ENSP00000448354:R164Q;ENSP00000432850:R118Q;ENSP00000433747:R98Q;ENSP00000411958:R118Q;ENSP00000432917:R118Q;ENSP00000008180:R98Q;ENSP00000380099:R164Q;ENSP00000431740:R89Q;ENSP00000446624:R109Q;ENSP00000436929:R118Q;ENSP00000447033:R142Q;ENSP00000449483:R164Q;ENSP00000448683:R118Q;ENSP00000446978:R98Q;ENSP00000449147:R155Q;ENSP00000371648:R109Q;ENSP00000447979:R78Q	ENSP00000008180:R98Q	R	+	2	0	IL32	3059143	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.432000	0.06956	-0.401000	0.07644	-0.287000	0.09952	CGG		0.602	IL32-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000394812.2	NM_004221		A	3119142	G	A	3119142	3	1	708	1	0	0	0	0	1	0	0	0	7694	1116	39	1	375	1	IL32	16	3119142	Missense_Mutation	SNP	G	TCGA-KL-8339-01A-11D-2310-10		3119142	87235611	78	39524											
GDPD3	79153	ucsc.edu;bcgsc.ca	37	16	30122776	30122776	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr16:30122776C>T	ENST00000406256.3	-	7	1017	c.640G>A	c.(640-642)Ggg>Agg	p.G214R	RP11-455F5.4_ENST00000566190.1_RNA	NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain containing 3	214	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						GGCAGCAGCCCCAGGTAGTAG	0.552																																																0													134	136	135					16																	30122776		2197	4300	6497	SO:0001583	missense	79153			AK026256	CCDS10671.2	16p11.2	2008-02-05			ENSG00000102886	ENSG00000102886			28638	protein-coding gene	gene with protein product							Standard	NM_024307		Approved	MGC4171	uc002dwp.3	Q7L5L3	OTTHUMG00000132106	ENST00000406256.3:c.640G>A	16.37:g.30122776C>T	ENSP00000384363:p.Gly214Arg		Q9H652	Missense_Mutation	SNP	ENST00000406256.3	37	CCDS10671.2	.	.	.	.	.	.	.	.	.	.	C	25.1	4.606060	0.87157	.	.	ENSG00000102886	ENST00000406256;ENST00000360688	T	0.12039	2.72	5.45	5.45	0.79879	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.000000	0.85682	D	0.000000	T	0.44393	0.1291	M	0.88775	2.98	0.52099	D	0.999946	D	0.89917	1.0	D	0.91635	0.999	T	0.50717	-0.8795	10	0.72032	D	0.01	.	14.7878	0.69816	0.0:1.0:0.0:0.0	.	214	Q7L5L3	GDPD3_HUMAN	R	214;152	ENSP00000384363:G214R	ENSP00000353909:G152R	G	-	1	0	GDPD3	30030277	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	4.966000	0.63715	2.523000	0.85059	0.655000	0.94253	GGG		0.552	GDPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255144.1	NM_024307		T	30122776	C	T	30122776	3	4	708	1	0	0	0	0	1	0	0	0	6327	623	22	2	332	2	GDPD3	16	30122776	Missense_Mutation	SNP	C	TCGA-KL-8339-01A-11D-2310-10	27003634	30122776	60231977	79	39525											
RNF167	26001	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	17	4845935	4845935	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr17:4845935C>T	ENST00000262482.6	+	5	1011	c.355C>T	c.(355-357)Ctt>Ttt	p.L119F	RNF167_ENST00000575111.1_Missense_Mutation_p.L119F|SLC25A11_ENST00000544061.2_5'Flank|SLC25A11_ENST00000225665.7_5'Flank|RNF167_ENST00000572430.1_Missense_Mutation_p.L119F|RNF167_ENST00000570492.1_3'UTR|RNF167_ENST00000571816.1_Missense_Mutation_p.L119F|RNF167_ENST00000576229.1_Missense_Mutation_p.L84F	NM_015528.1	NP_056343.1	Q9H6Y7	RN167_HUMAN	ring finger protein 167	119	PA.				negative regulation of cell cycle (GO:0045786)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(1)	4						TTCCAATGAACTTCTGAACAT	0.512																																																0													152	152	152					17																	4845935		2203	4300	6503	SO:0001583	missense	26001			AL050060	CCDS11060.1	17p13.3	2013-02-21			ENSG00000108523	ENSG00000108523		"RING-type (C3HC4) zinc fingers"	24544	protein-coding gene	gene with protein product		610431				23129617, 23353890	Standard	NM_015528		Approved	DKFZP566H073	uc002fzs.3	Q9H6Y7	OTTHUMG00000099397	ENST00000262482.6:c.355C>T	17.37:g.4845935C>T	ENSP00000262482:p.Leu119Phe		D3DTK8|Q6XYE0|Q8NDC1|Q9Y3V1	Missense_Mutation	SNP	ENST00000262482.6	37	CCDS11060.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158175	0.78114	.	.	ENSG00000108523	ENST00000262482	T	0.06608	3.28	5.91	5.91	0.95273	Protease-associated domain, PA (1);	0.000000	0.85682	D	0.000000	T	0.34600	0.0903	M	0.91510	3.215	0.53005	D	0.999963	D	0.76494	0.999	D	0.83275	0.996	T	0.19289	-1.0310	10	0.56958	D	0.05	-23.6247	17.7884	0.88545	0.0:1.0:0.0:0.0	.	119	Q9H6Y7	RN167_HUMAN	F	119	ENSP00000262482:L119F	ENSP00000262482:L119F	L	+	1	0	RNF167	4786680	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.819000	0.39022	2.804000	0.96469	0.462000	0.41574	CTT		0.512	RNF167-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216854.3	NM_015528		T	4845935	C	T	4845935	3	4	708	1	0	0	0	0	1	0	0	0	13464	565	20	2	369	2	RNF167	17	4845935	Missense_Mutation	SNP	C	TCGA-KL-8339-01A-11D-2310-10		4845935	76349275	80	39526											
KIAA0753	9851	broad.mit.edu;ucsc.edu;mdanderson.org	37	17	6515464	6515464	+	Silent	SNP	C	C	T			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr17:6515464C>T	ENST00000361413.3	-	8	1678	c.1320G>A	c.(1318-1320)aaG>aaA	p.K440K	KIAA0753_ENST00000542606.1_Silent_p.K141K|KIAA0753_ENST00000589033.1_Intron|KIAA0753_ENST00000572370.1_Silent_p.K141K	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	440						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		CGGGCTGATACTTATCTACAT	0.393																																																0													79	79	79					17																	6515464		1846	4094	5940	SO:0001819	synonymous_variant	9851				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.1320G>A	17.37:g.6515464C>T			A8KA11|B7Z479|O94853|Q05D97|Q2KHN0|Q9UG45	Silent	SNP	ENST00000361413.3	37	CCDS42247.1																																																																																				0.393	KIAA0753-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439769.3	NM_014804		T	6515464	C	T	6515464	2	4	708	1	0	0	0	0	0	0	0	1	8193	564	20	2		2	KIAA0753	17	6515464	Silent	SNP	C	TCGA-KL-8339-01A-11D-2310-10	1669529	6515464	74679746	81	39527											
TP53	7157	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr17:7577094G>A	ENST00000269305.4	-	8	1033	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000420246.2_Missense_Mutation_p.R282W|TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_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)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	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)	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)	GRCh37	CM056413|CM920678	TP53	M	rs28934574	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	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.844C>T	17.37:g.7577094G>A	ENSP00000269305:p.Arg282Trp		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	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		A	7577094	G	A	7577094	3	1	708	1	0	0	0	0	1	0	0	0	16386	1115	39	1	442	1	TP53	17	7577094	Missense_Mutation	SNP	G	TCGA-KL-8339-01A-11D-2310-10	1061630	7577094	73618116	82	39528											
SGK494	9703	hgsc.bcm.edu;ucsc.edu	37	17	26941165	26941165	+	IGR	SNP	G	G	C			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr17:26941165G>C	ENST00000528896.2	-	0	7407				RP11-192H23.4_ENST00000577790.1_Missense_Mutation_p.S5R|SGK494_ENST00000469832.3_5'UTR|SPAG5-AS1_ENST00000414744.1_RNA|SGK494_ENST00000301037.5_Missense_Mutation_p.S5R|KIAA0100_ENST00000579924.2_5'Flank|SPAG5-AS1_ENST00000554154.1_RNA|SPAG5-AS1_ENST00000424210.1_RNA|RP11-192H23.4_ENST00000534850.1_Missense_Mutation_p.S5R	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100							extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CCTGCCGACAGCTTACTGCTC	0.602																																																0													70	59	63					17																	26941165		2203	4300	6503	SO:0001628	intergenic_variant	0			D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"cancer/testis antigen 101", "breast cancer overexpressed gene 1"	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587		17.37:g.26941165G>C			A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.502072	0.44455	.	.	ENSG00000258472;ENSG00000167524;ENSG00000167524;ENSG00000167524;ENSG00000167524;ENSG00000167524	ENST00000531839;ENST00000378976;ENST00000481916;ENST00000301037;ENST00000534850;ENST00000530121	T;T	0.69685	-0.42;1.38	5.69	3.69	0.42338	.	0.467347	0.22679	N	0.056977	T	0.55065	0.1897	L	0.27053	0.805	0.27099	N	0.962675	P;P	0.48016	0.904;0.578	P;B	0.45829	0.494;0.172	T	0.49995	-0.8879	10	0.44086	T	0.13	-2.377	9.2841	0.37746	0.1697:0.0:0.8303:0.0	.	5;5	E9PMD0;Q96LW2	.;SG494_HUMAN	R	5	ENSP00000301037:S5R;ENSP00000434603:S5R	ENSP00000301037:S5R	S	-	3	2	AC005726.6;RP11-192H23.4	23965292	1.000000	0.71417	0.999000	0.59377	0.953000	0.61014	2.075000	0.41538	1.407000	0.46875	0.650000	0.86243	AGC		0.602	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		C	26941165	G	C	26941165	1	2	708	0	1	0	0	0	0	0	0	0	14219	962	34	4		4	SGK494	17	26941165	IGR	SNP	G	TCGA-KL-8339-01A-11D-2310-10	19364071	26941165	54254045	83	39529											
FMNL1	752	mdanderson.org	37	17	43319770	43319770	+	Silent	SNP	C	C	T	rs1801353	byFrequency	TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr17:43319770C>T	ENST00000331495.3	+	16	2284	c.1948C>T	c.(1948-1950)Ctg>Ttg	p.L650L	FMNL1_ENST00000587489.1_Silent_p.L228L|CTD-2020K17.4_ENST00000420431.2_RNA|CTD-2020K17.3_ENST00000393507.2_RNA|CTD-2020K17.3_ENST00000587534.1_RNA|FMNL1_ENST00000328118.3_Silent_p.L650L	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	650	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament severing (GO:0051014)|cortical actin cytoskeleton organization (GO:0030866)|regulation of cell shape (GO:0008360)|substrate-dependent cell migration (GO:0006929)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|GTPase activating protein binding (GO:0032794)|Rac GTPase binding (GO:0048365)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						CTGGGTGGCACTGAAACCCAG	0.602													C|||	1608	0.321086	0.1036	0.4265	5008	,	,		17304	0.2837		0.4483	False		,,,				2504	0.4479				GBM(164;1247 1997 8702 11086 51972)											0								C		706,3700	294.7+/-283.3	60,586,1557	90	73	79		1948	1.7	1	17	dbSNP_89	79	4305,4295	576.8+/-390.4	1079,2147,1074	no	coding-synonymous	FMNL1	NM_005892.3		1139,2733,2631	TT,TC,CC		49.9419,16.0236,38.5284		650/1101	43319770	5011,7995	2203	4300	6503	SO:0001819	synonymous_variant	752			AJ008112	CCDS11497.1	17q21.31	2008-05-14	2003-12-02	2003-12-03		ENSG00000184922			1212	protein-coding gene	gene with protein product		604656	"formin-like"	C17orf1B, FMNL		9799091	Standard	NM_005892		Approved	C17orf1	uc002iin.3	O95466		ENST00000331495.3:c.1948C>T	17.37:g.43319770C>T			D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	Silent	SNP	ENST00000331495.3	37	CCDS11497.1																																																																																				0.602	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450198.1	NM_005892		T	43319770	C	T	43319770	2	4	708	1	0	0	0	0	0	0	0	1	5953	564	20	2		2	FMNL1	17	43319770	Silent	SNP	C	TCGA-KL-8339-01A-11D-2310-10	16378605	43319770	37875440	84	39530											
USP14	9097	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	18	211193	211193	+	Missense_Mutation	SNP	G	G	T	rs554797989		TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr18:211193G>T	ENST00000261601.7	+	16	1485	c.1394G>T	c.(1393-1395)cGg>cTg	p.R465L	USP14_ENST00000383589.2_Missense_Mutation_p.R419L|USP14_ENST00000582707.1_Missense_Mutation_p.R430L|USP14_ENST00000400266.3_Missense_Mutation_p.R454L	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)	465	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)				GATATCTTACGGCTTTCTGGT	0.393																																																0													122	105	111					18																	211193		2203	4300	6503	SO:0001583	missense	9097			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.1394G>T	18.37:g.211193G>T	ENSP00000261601:p.Arg465Leu		J3QRZ5|Q53XY5	Missense_Mutation	SNP	ENST00000261601.7	37	CCDS32780.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.791266	0.90367	.	.	ENSG00000101557	ENST00000261601;ENST00000383589;ENST00000400266	T;T	0.30981	1.51;1.51	6.03	6.03	0.97812	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.103869	0.64402	D	0.000007	T	0.57681	0.2070	M	0.81942	2.565	0.80722	D	1	P;P;P	0.51933	0.879;0.825;0.949	P;P;P	0.58721	0.642;0.647;0.844	T	0.58358	-0.7650	10	0.66056	D	0.02	-17.2505	20.5568	0.99304	0.0:0.0:1.0:0.0	.	454;430;465	B7Z4N8;A6NJA2;P54578	.;.;UBP14_HUMAN	L	465;430;454	ENSP00000261601:R465L;ENSP00000383125:R454L	ENSP00000261601:R465L	R	+	2	0	USP14	201193	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.135000	0.71696	2.861000	0.98227	0.655000	0.94253	CGG		0.393	USP14-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440305.3	NM_005151		T	211193	G	T	211193	3	4	708	1	0	0	0	0	1	0	0	0	17050	1116	39	4	1456	4	USP14	18	211193	Missense_Mutation	SNP	G	TCGA-KL-8339-01A-11D-2310-10		211193	77866055	85	39531											
APCDD1	147495	broad.mit.edu;mdanderson.org	37	18	10485688	10485688	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr18:10485688A>G	ENST00000355285.5	+	4	1358	c.1004A>G	c.(1003-1005)aAg>aGg	p.K335R	APCDD1_ENST00000578882.1_Intron	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)		CCGGTGTGCAAGCACCCCACC	0.607																																																0													85	62	70					18																	10485688		2203	4300	6503	SO:0001583	missense	147495			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.1004A>G	18.37:g.10485688A>G	ENSP00000347433:p.Lys335Arg			Missense_Mutation	SNP	ENST00000355285.5	37	CCDS11849.1	.	.	.	.	.	.	.	.	.	.	A	11.80	1.747738	0.30955	.	.	ENSG00000154856	ENST00000355285;ENST00000423585	T	0.17054	2.3	4.77	4.77	0.60923	.	0.096491	0.64402	D	0.000001	T	0.10035	0.0246	N	0.20483	0.58	0.80722	D	1	B	0.10296	0.003	B	0.15870	0.014	T	0.06006	-1.0851	10	0.02654	T	1	-48.6664	13.6296	0.62188	1.0:0.0:0.0:0.0	.	335	Q8J025	APCD1_HUMAN	R	335;386	ENSP00000347433:K335R	ENSP00000347433:K335R	K	+	2	0	APCDD1	10475688	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.455000	0.60075	2.013000	0.59113	0.459000	0.35465	AAG		0.607	APCDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254529.2	NM_153000		G	10485688	A	G	10485688	3	3	708	1	0	0	0	0	1	0	0	0	765	72	3	3	1018	3	APCDD1	18	10485688	Missense_Mutation	SNP	A	TCGA-KL-8339-01A-11D-2310-10	10274495	10485688	67591560	86	39532											
SERPINB8	5271	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	18	61654433	61654433	+	Missense_Mutation	SNP	C	C	A			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr18:61654433C>A	ENST00000397985.2	+	7	1302	c.1046C>A	c.(1045-1047)gCa>gAa	p.A349E	SERPINB8_ENST00000493661.1_Intron|SERPINB8_ENST00000542677.1_Missense_Mutation_p.A167E|SERPINB8_ENST00000353706.2_Missense_Mutation_p.A349E	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	349					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)				AGATTCTGTGCAGACCACCCT	0.512																																																0													96	94	95					18																	61654433		2203	4300	6503	SO:0001583	missense	5271			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.1046C>A	18.37:g.61654433C>A	ENSP00000381072:p.Ala349Glu		B4DTW2|Q7Z2V6|Q8N178	Missense_Mutation	SNP	ENST00000397985.2	37	CCDS11991.1	.	.	.	.	.	.	.	.	.	.	C	19.36	3.812074	0.70797	.	.	ENSG00000166401	ENST00000397985;ENST00000353706;ENST00000542677	D;D;T	0.85702	-2.02;-2.02;2.4	5.65	4.74	0.60224	Serpin domain (3);Protease inhibitor I4, serpin, conserved site (1);	0.203488	0.51477	D	0.000086	D	0.94364	0.8188	H	0.97611	4.04	0.58432	D	0.999993	D	0.76494	0.999	D	0.78314	0.991	D	0.94705	0.7887	10	0.87932	D	0	.	9.2896	0.37778	0.0:0.8315:0.0:0.1685	.	349	P50452	SPB8_HUMAN	E	349;349;167	ENSP00000381072:A349E;ENSP00000331368:A349E;ENSP00000438328:A167E	ENSP00000331368:A349E	A	+	2	0	SERPINB8	59805413	0.998000	0.40836	1.000000	0.80357	0.590000	0.36582	3.061000	0.49963	1.534000	0.49203	-0.345000	0.07892	GCA		0.512	SERPINB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134014.1	NM_001031848		A	61654433	C	A	61654433	3	1	708	1	0	0	0	0	1	0	0	0	14113	710	25	4	1081	4	SERPINB8	18	61654433	Missense_Mutation	SNP	C	TCGA-KL-8339-01A-11D-2310-10	51168745	61654433	16422815	87	39533											
FUT3	2525	mdanderson.org	37	19	5843877	5843877	+	Missense_Mutation	SNP	G	G	A	rs28381969	byFrequency	TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr19:5843877G>A	ENST00000303225.6	-	3	1608	c.974C>T	c.(973-975)aCg>aTg	p.T325M	FUT3_ENST00000589918.1_Missense_Mutation_p.T325M|FUT3_ENST00000589620.1_Missense_Mutation_p.T325M|FUT3_ENST00000593144.1_5'Flank|FUT3_ENST00000458379.2_Missense_Mutation_p.T325M	NM_000149.3	NP_000140	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	325			T -> M (in dbSNP:rs28381969). {ECO:0000269|Ref.5}.		cell-cell recognition (GO:0009988)|fucosylation (GO:0036065)|macromolecule glycosylation (GO:0043413)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						AGGCCGCAGCGTCTCCCGCCA	0.637													G|||	37	0.00738818	0.025	0.0043	5008	,	,		19604	0.001		0.0	False		,,,				2504	0.0				Esophageal Squamous(82;745 1728 24593 44831)											0													42	45	44					19																	5843877		2203	4300	6503	SO:0001583	missense	2525				CCDS12153.1	19p13.3	2014-07-19	2006-01-12		ENSG00000171124	ENSG00000171124	2.4.1.65	"CD molecules", "Blood group antigens", "Fucosyltransferases"	4014	protein-coding gene	gene with protein product		111100	"fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group included)"	LE		1977660, 1740457	Standard	NM_000149		Approved	CD174	uc002mdk.2	P21217	OTTHUMG00000180614	ENST00000303225.6:c.974C>T	19.37:g.5843877G>A	ENSP00000305603:p.Thr325Met		B5U7U9|B5U7V0|Q32NE7|Q99448|Q99449	Missense_Mutation	SNP	ENST00000303225.6	37	CCDS12153.1	36	0.016483516483516484	18	0.036585365853658534	1	0.0027624309392265192	6	0.01048951048951049	11	0.014511873350923483	G	12.11	1.838692	0.32513	.	.	ENSG00000171124	ENST00000303225;ENST00000458379	T;T	0.24350	1.86;1.86	2.29	1.18	0.20946	.	0.943966	0.08680	N	0.909636	T	0.07413	0.0187	M	0.79805	2.47	0.09310	N	1	P;P;P;P	0.38617	0.64;0.483;0.483;0.483	B;B;B;B	0.36186	0.219;0.148;0.148;0.148	T	0.11494	-1.0585	10	0.37606	T	0.19	.	5.4124	0.16356	0.1897:0.0:0.8103:0.0	rs28381969	325;325;325;325	B3W6H0;A8K737;B3GVC1;P21217	.;.;.;FUT3_HUMAN	M	325	ENSP00000305603:T325M;ENSP00000416443:T325M	ENSP00000305603:T325M	T	-	2	0	FUT3	5794877	0.000000	0.05858	0.620000	0.29132	0.507000	0.33981	-1.150000	0.03178	0.242000	0.21303	0.194000	0.17425	ACG		0.637	FUT3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452204.1	NM_000149		A	5843877	G	A	5843877	3	1	708	1	0	0	0	0	1	0	0	0	6107	1145	40	1	115	1	FUT3	19	5843877	Missense_Mutation	SNP	G	TCGA-KL-8339-01A-11D-2310-10		5843877	53285106	88	39534											
ZNF208	7757	mdanderson.org	37	19	22156850	22156850	+	Missense_Mutation	SNP	A	A	G	rs199858837		TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr19:22156850A>G	ENST00000397126.4	-	4	1134	c.986T>C	c.(985-987)aTt>aCt	p.I329T	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	329					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)				CTTATGTGTAATAAGGGTTGA	0.393																																																0													62	63	63					19																	22156850		1996	4092	6088	SO:0001583	missense	7757			BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"Zinc fingers, C2H2-type", "-"	12999	protein-coding gene	gene with protein product	"zinc finger protein 95"	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.986T>C	19.37:g.22156850A>G	ENSP00000380315:p.Ile329Thr			Missense_Mutation	SNP	ENST00000397126.4	37	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	A	0.001	-3.776923	0.00004	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.37584	1.19	2.93	-5.86	0.02304	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13457	0.0326	.	.	.	0.09310	N	1	B	0.14805	0.011	B	0.08055	0.003	T	0.06320	-1.0833	8	0.07030	T	0.85	.	5.0767	0.14634	0.3245:0.0:0.3073:0.3682	.	329	O43345	ZN208_HUMAN	T	329	ENSP00000380315:I329T	ENSP00000380315:I329T	I	-	2	0	ZNF208	21948690	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.811000	0.00755	-4.922000	0.00027	-4.087000	0.00011	ATT		0.393	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		G	22156850	A	G	22156850	3	3	708	1	0	0	0	0	1	0	0	0	17771	101	4	3	2860	3	ZNF208	19	22156850	Missense_Mutation	SNP	A	TCGA-KL-8339-01A-11D-2310-10	16312973	22156850	36972133	89	39535											
FCGBP	8857	mdanderson.org	37	19	40376927	40376927	+	Missense_Mutation	SNP	G	G	A	rs146581881		TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr19:40376927G>A	ENST00000221347.6	-	24	11502	c.11495C>T	c.(11494-11496)cCg>cTg	p.P3832L	FCGBP_ENST00000595713.1_5'UTR	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	3832	VWFD 9. {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)			GGTGGGCGGCGGCAGGCAGGG	0.647																																																0								G	LEU/PRO	3,4323		1,1,2161	17	19	18		11495	0.9	0	19	dbSNP_134	18	0,8552		0,0,4276	no	missense	FCGBP	NM_003890.2	98	1,1,6437	AA,AG,GG		0.0,0.0693,0.0233	possibly-damaging	3832/5406	40376927	3,12875	2163	4276	6439	SO:0001583	missense	8857			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.11495C>T	19.37:g.40376927G>A	ENSP00000221347:p.Pro3832Leu		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	g	12.14	1.850084	0.32699	6.93E-4	0.0	ENSG00000090920	ENST00000221347	T	0.18502	2.21	3.33	0.901	0.19284	von Willebrand factor, type D domain (1);	.	.	.	.	T	0.11793	0.0287	L	0.60845	1.875	0.09310	N	1	P	0.43352	0.804	B	0.27262	0.078	T	0.19451	-1.0305	9	0.33141	T	0.24	.	6.7765	0.23622	0.0:0.3655:0.4479:0.1865	.	3832	Q9Y6R7	FCGBP_HUMAN	L	3832	ENSP00000221347:P3832L	ENSP00000221347:P3832L	P	-	2	0	FCGBP	45068767	0.000000	0.05858	0.002000	0.10522	0.035000	0.12851	0.229000	0.17833	0.137000	0.18759	0.313000	0.20887	CCG		0.647	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		A	40376927	G	A	40376927	3	1	708	1	0	0	0	0	1	0	0	0	5780	1116	39	1	4774	1	FCGBP	19	40376927	Missense_Mutation	SNP	G	TCGA-KL-8339-01A-11D-2310-10	18220077	40376927	18752056	90	39536											
PVRL2	5819	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	45368669	45368669	+	Missense_Mutation	SNP	C	C	T	rs111808500		TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr19:45368669C>T	ENST00000252483.5	+	2	230	c.230C>T	c.(229-231)gCg>gTg	p.A77V	PVRL2_ENST00000252485.4_Missense_Mutation_p.A77V	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	77	Ig-like V-type.				acrosome assembly (GO:0001675)|adherens junction organization (GO:0034332)|adhesion of symbiont to host (GO:0044406)|cell junction assembly (GO:0034329)|cell part morphogenesis (GO:0032990)|cell-cell junction organization (GO:0045216)|cilium organization (GO:0044782)|coreceptor-mediated virion attachment to host cell (GO:0046814)|cytoskeleton organization (GO:0007010)|establishment of mitochondrion localization (GO:0051654)|fertilization (GO:0009566)|fusion of virus membrane with host plasma membrane (GO:0019064)|homophilic cell adhesion (GO:0007156)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|sperm mitochondrion organization (GO:0030382)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		GATGCACCTGCGAACCACCAG	0.662																																																0								T	VAL/ALA,VAL/ALA	0,4406		0,0,2203	71	60	64		230,230	-5.8	0	19	dbSNP_132	64	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PVRL2	NM_001042724.1,NM_002856.2	64,64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	77/539,77/480	45368669	1,13005	2203	4300	6503	SO:0001583	missense	5819			X80038	CCDS12645.1, CCDS42576.1	19q13.32	2013-01-29			ENSG00000130202	ENSG00000130202		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9707	protein-coding gene	gene with protein product		600798		HVEB		7622062, 10196354	Standard	NM_001042724		Approved	PVRR2, PRR2, CD112	uc002ozw.1	Q92692	OTTHUMG00000180839	ENST00000252483.5:c.230C>T	19.37:g.45368669C>T	ENSP00000252483:p.Ala77Val		A8K5L5|O75455|Q6IBI6|Q96J29	Missense_Mutation	SNP	ENST00000252483.5	37	CCDS42576.1	.	.	.	.	.	.	.	.	.	.	c	10.27	1.304881	0.23736	0.0	1.16E-4	ENSG00000130202	ENST00000252483;ENST00000252485	T;T	0.66280	-0.2;-0.2	4.33	-5.77	0.02369	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.585450	0.03789	N	0.262576	T	0.32585	0.0834	N	0.08118	0	0.09310	N	1	B;B	0.24043	0.067;0.096	B;B	0.16289	0.015;0.013	T	0.06734	-1.0810	10	0.40728	T	0.16	.	0.3328	0.00321	0.2868:0.2892:0.1884:0.2357	.	77;77	Q92692;Q92692-2	PVRL2_HUMAN;.	V	77	ENSP00000252483:A77V;ENSP00000252485:A77V	ENSP00000252483:A77V	A	+	2	0	PVRL2	50060509	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.589000	0.05767	-1.068000	0.03156	-1.385000	0.01166	GCG		0.662	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453231.1	NM_002856		T	45368669	C	T	45368669	3	4	708	1	0	0	0	0	1	0	0	0	12846	768	27	1	236	1	PVRL2	19	45368669	Missense_Mutation	SNP	C	TCGA-KL-8339-01A-11D-2310-10	4991742	45368669	13760314	91	39537											
NOVA2	4858	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	19	46443970	46443970	+	Silent	SNP	G	G	A			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr19:46443970G>A	ENST00000263257.5	-	4	824	c.630C>T	c.(628-630)ctC>ctT	p.L210L		NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	210					regulation of RNA metabolic process (GO:0051252)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		AGCTGATGTTGAGGCAGCTGC	0.687																																																0													60	32	42					19																	46443970		2168	4243	6411	SO:0001819	synonymous_variant	4858			U70477	CCDS12679.1	19q13.3	2008-07-17				ENSG00000104967			7887	protein-coding gene	gene with protein product	"neuro-oncological ventral antigen 3"	601991		NOVA3		9344654, 10368286	Standard	NM_002516		Approved	ANOVA	uc002pdv.2	Q9UNW9		ENST00000263257.5:c.630C>T	19.37:g.46443970G>A			O43267|Q9UEA1	Silent	SNP	ENST00000263257.5	37	CCDS12679.1																																																																																				0.687	NOVA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437210.2	NM_002516		A	46443970	G	A	46443970	2	1	708	1	0	0	0	0	0	0	0	1	10557	1277	45	2		2	NOVA2	19	46443970	Silent	SNP	G	TCGA-KL-8339-01A-11D-2310-10	1075301	46443970	12685013	92	39538											
SIGLEC5	8778	mdanderson.org	37	19	52132741	52132741	+	Silent	SNP	G	G	A	rs200210701	byFrequency	TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr19:52132741G>A	ENST00000534261.2	-	4	969	c.570C>T	c.(568-570)ccC>ccT	p.P190P	SIGLEC5_ENST00000599649.1_Silent_p.P190P|SIGLEC5_ENST00000429354.3_Silent_p.P190P|SIGLEC5_ENST00000570106.2_Silent_p.P190P|SIGLEC5_ENST00000222107.4_Silent_p.P190P			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	190	Ig-like C2-type 1.				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)		GGGTGGTCTCGGGGTCCAGGG	0.652													G|||	61	0.0121805	0.0159	0.0014	5008	,	,		15292	0.0288		0.002	False		,,,				2504	0.0082															0													16	16	16					19																	52132741		2201	4290	6491	SO:0001819	synonymous_variant	8778			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.570C>T	19.37:g.52132741G>A				Silent	SNP	ENST00000534261.2	37	CCDS33088.1																																																																																				0.652	SIGLEC5-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466897.2	NM_003830		A	52132741	G	A	52132741	2	1	708	1	0	0	0	0	0	0	0	1	14317	1103	39	1		1	SIGLEC5	19	52132741	Silent	SNP	G	TCGA-KL-8339-01A-11D-2310-10	5688771	52132741	6996242	93	39539											
ZNF845	91664	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	19	53856300	53856300	+	Missense_Mutation	SNP	C	C	A			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr19:53856300C>A	ENST00000595091.1	+	5	2591	c.2372C>A	c.(2371-2373)gCa>gAa	p.A791E	ZNF845_ENST00000458035.1_Missense_Mutation_p.A791E			Q96IR2	ZN845_HUMAN	zinc finger protein 845	791					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TCACACCTGGCACAACATACT	0.403																																																0													47	43	44					19																	53856300		692	1591	2283	SO:0001583	missense	91664			BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"Zinc fingers, C2H2-type", "-"	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2372C>A	19.37:g.53856300C>A	ENSP00000470005:p.Ala791Glu			Missense_Mutation	SNP	ENST00000595091.1	37	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	C	3.789	-0.044051	0.07452	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.07114	3.22	2.06	-4.11	0.03928	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04048	0.0113	N	0.17631	0.505	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.35425	-0.9789	9	0.32370	T	0.25	.	2.0734	0.03618	0.4102:0.2163:0.271:0.1025	.	791	Q96IR2	ZN845_HUMAN	E	791;707	ENSP00000388311:A791E	ENSP00000412086:A707E	A	+	2	0	ZNF845	58548112	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-5.320000	0.00131	-2.637000	0.00431	-0.512000	0.04463	GCA		0.403	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		A	53856300	C	A	53856300	3	1	708	1	0	0	0	0	1	0	0	0	18196	710	25	4	2382	4	ZNF845	19	53856300	Missense_Mutation	SNP	C	TCGA-KL-8339-01A-11D-2310-10	1723559	53856300	5272683	94	39540											
LILRA2	11027	mdanderson.org	37	19	55086949	55086949	+	Silent	SNP	A	A	G			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr19:55086949A>G	ENST00000251377.3	+	6	1015	c.882A>G	c.(880-882)agA>agG	p.R294R	LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000251376.3_Silent_p.R294R|LILRA2_ENST00000391737.1_Silent_p.R282R|LILRA2_ENST00000391738.3_Silent_p.R294R|LILRB1_ENST00000418536.2_Intron			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	294	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)			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)		GCCAGTACAGATGCTACAGTG	0.662																																																0													50	52	51					19																	55086949		2203	4299	6502	SO:0001819	synonymous_variant	11027			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.882A>G	19.37:g.55086949A>G			O75020	Silent	SNP	ENST00000251377.3	37	CCDS46179.1																																																																																				0.662	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			G	55086949	A	G	55086949	2	3	708	1	0	0	0	0	0	0	0	1	8787	330	12	3		3	LILRA2	19	55086949	Silent	SNP	A	TCGA-KL-8339-01A-11D-2310-10	1230649	55086949	4042034	95	39541											
ZNF329	79673	mdanderson.org;bcgsc.ca	37	19	58639916	58639916	+	Nonsense_Mutation	SNP	C	C	A			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr19:58639916C>A	ENST00000598312.1	-	4	1188	c.955G>T	c.(955-957)Gaa>Taa	p.E319*	ZNF329_ENST00000358067.4_Nonsense_Mutation_p.E319*	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	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)			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		TTCCCACATTCGTTACATCTA	0.428																																																0													132	127	129					19																	58639916		2203	4300	6503	SO:0001587	stop_gained	79673			AK022648	CCDS12972.1	19q13.43	2013-01-08				ENSG00000181894		"Zinc fingers, C2H2-type"	14209	protein-coding gene	gene with protein product							Standard	XM_006723381		Approved	FLJ12586	uc002qrn.3	Q86UD4		ENST00000598312.1:c.955G>T	19.37:g.58639916C>A	ENSP00000470008:p.Glu319*		B3KR32|Q9H9R7	Nonsense_Mutation	SNP	ENST00000598312.1	37	CCDS12972.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.431607	0.62844	.	.	ENSG00000181894	ENST00000358067;ENST00000500161	.	.	.	4.01	4.01	0.46588	.	0.000000	0.46758	D	0.000264	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-20.6342	16.1129	0.81275	0.0:1.0:0.0:0.0	.	.	.	.	X	319	.	ENSP00000350773:E319X	E	-	1	0	ZNF329	63331728	0.004000	0.15560	0.999000	0.59377	0.134000	0.20937	0.644000	0.24766	2.541000	0.85698	0.655000	0.94253	GAA		0.428	ZNF329-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466724.1	NM_024620		A	58639916	C	A	58639916	4	1	708	1	0	0	0	0	0	1	0	0	17852	893	31	4	674	4	ZNF329	19	58639916	Nonsense_Mutation	SNP	C	TCGA-KL-8339-01A-11D-2310-10	3552967	58639916	489067	96	39542											
FAM83D	81610	mdanderson.org	37	20	37555116	37555116	+	Missense_Mutation	SNP	G	G	C	rs3752290	byFrequency	TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr20:37555116G>C	ENST00000217429.4	+	1	162	c.121G>C	c.(121-123)Gtg>Ctg	p.V41L		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	11					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)				CCTGGACGAGGTGCCCGCCGC	0.701													C|||	2010	0.401358	0.5076	0.3847	5008	,	,		10968	0.4157		0.3429	False		,,,				2504	0.3149															0								C	LEU/VAL	1601,2097		394,813,642	8	11	10		121	3.4	0.9	20	dbSNP_107	10	2399,5669		370,1659,2005	no	missense	FAM83D	NM_030919.2	32	764,2472,2647	CC,CG,GG		29.7348,43.2937,33.9963	benign	41/616	37555116	4000,7766	1849	4034	5883	SO:0001583	missense	81610			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.121G>C	20.37:g.37555116G>C	ENSP00000217429:p.Val41Leu		B4E1I7|Q5THR2|Q68EN1|Q6P457|Q7Z6H0|Q96DF5|Q96N89|Q9BVM8	Missense_Mutation	SNP	ENST00000217429.4	37	CCDS42872.1	870	0.3983516483516483	269	0.5467479674796748	136	0.3756906077348066	202	0.3531468531468531	263	0.3469656992084433	C	0.704	-0.789777	0.02884	0.432937	0.297348	ENSG00000101447	ENST00000217429;ENST00000424027	T	0.10477	2.87	5.48	3.44	0.39384	.	0.490125	0.16258	N	0.222396	T	0.00012	0.0000	N	0.02011	-0.69	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.38757	-0.9646	9	0.06891	T	0.86	.	7.0157	0.24887	0.0:0.4204:0.417:0.1626	rs3752290;rs17846649;rs17859744;rs3752290	11;11	Q9H4H8;Q9H4H8-2	FA83D_HUMAN;.	L	41;11	ENSP00000217429:V41L	ENSP00000217429:V41L	V	+	1	0	FAM83D	36988530	0.003000	0.15002	0.905000	0.35620	0.017000	0.09413	0.278000	0.18753	0.696000	0.31696	-0.120000	0.15030	GTG		0.701	FAM83D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079211.1			C	37555116	G	C	37555116	3	2	708	1	0	0	0	0	1	0	0	0	5638	1261	44	4	123	4	FAM83D	20	37555116	Missense_Mutation	SNP	G	TCGA-KL-8339-01A-11D-2310-10		37555116	25470404	97	39543											
GTPBP5	26164	broad.mit.edu	37	20	60774224	60774225	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr20:60774224_60774225insC	ENST00000370823.3	+	6	755_756	c.737_738insC	c.(736-741)aacgccfs	p.A247fs	MTG2_ENST00000436421.2_Intron|MTG2_ENST00000536470.1_Frame_Shift_Ins_p.A19fs	NM_015666.3	NP_056481.1	Q9H4K7	MTG2_HUMAN	mitochondrial ribosome-associated GTPase 2	247	Localized in the mitochondria.|Not localized in the mitochondria.|OBG-type G.				GTP catabolic process (GO:0006184)|regulation of mitochondrial translation (GO:0070129)|regulation of respiratory system process (GO:0044065)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial ribosome (GO:0005761)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)										GCCATTTCAAACGCCAGACCCG	0.614																																																0																																										SO:0001589	frameshift_variant	26164			AK001603	CCDS13492.1	20q13.33	2013-05-24	2013-05-24	2013-05-24	ENSG00000101181	ENSG00000101181			16239	protein-coding gene	gene with protein product		610919	"GTP-binding protein 5 (putative)", "GTP binding protein 5 (putative)"	GTPBP5		17054726, 23396448	Standard	NM_015666		Approved	FLJ10741, dJ1005F21.2, ObgH1		Q9H4K7	OTTHUMG00000032897	ENST00000370823.3:c.738dupC	20.37:g.60774225_60774225dupC	ENSP00000359859:p.Ala247fs		A6NDR3|B4DR85|Q96I17|Q9NVG9|Q9UFR4	Frame_Shift_Ins	INS	ENST00000370823.3	37	CCDS13492.1																																																																																				0.614	MTG2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079989.1	NM_015666		C	60774225	-	C	60774224	7	5	708	1	0	1	1	0	0	0	0	0	6885	43	2	0	755	0	GTPBP5	20	60774224	Frame_Shift_Ins	INS	-	TCGA-KL-8339-01A-11D-2310-10	23219108	60774224	2251296	98	39544											
NIPSNAP1	8508	broad.mit.edu;mdanderson.org;bcgsc.ca	37	22	29956774	29956774	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr22:29956774C>T	ENST00000216121.7	-	8	909	c.655G>A	c.(655-657)Ggc>Agc	p.G219S		NM_001202502.1|NM_003634.3	NP_001189431.1|NP_003625.2	Q9BPW8	NIPS1_HUMAN	nipsnap homolog 1 (C. elegans)	219					sensory perception of pain (GO:0019233)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|synaptic membrane (GO:0097060)	neurotransmitter binding (GO:0042165)	p.?(1)		large_intestine(2)|lung(2)|skin(1)	5						AAGAAGCCGCCCACTGCCTCC	0.562																																																1	Unknown(1)	lung(1)											126	122	123					22																	29956774		2203	4300	6503	SO:0001583	missense	8508			AJ001258	CCDS13860.1	22q12	2013-09-12	2001-11-28		ENSG00000184117	ENSG00000184117			7827	protein-coding gene	gene with protein product	"4-nitrophenylphosphatase domain and non-neuronal SNAP25-like 1"	603249	"NIPSNAP, C. elegans, homolog 1"			9661659	Standard	NM_003634		Approved		uc003afx.4	Q9BPW8	OTTHUMG00000151294	ENST00000216121.7:c.655G>A	22.37:g.29956774C>T	ENSP00000216121:p.Gly219Ser		B2RAY3|O43800	Missense_Mutation	SNP	ENST00000216121.7	37	CCDS13860.1	.	.	.	.	.	.	.	.	.	.	C	35	5.553847	0.96501	.	.	ENSG00000184117	ENST00000216121	T	0.71698	-0.59	4.91	4.91	0.64330	Dimeric alpha-beta barrel (1);	0.000000	0.85682	D	0.000000	D	0.88276	0.6393	M	0.93854	3.465	0.80722	D	1	D;D	0.69078	0.997;0.992	D;D	0.79108	0.992;0.954	D	0.90843	0.4725	10	0.66056	D	0.02	-0.3221	18.245	0.89982	0.0:1.0:0.0:0.0	.	199;219	B4DQI7;Q9BPW8	.;NIPS1_HUMAN	S	219	ENSP00000216121:G219S	ENSP00000216121:G219S	G	-	1	0	NIPSNAP1	28286774	1.000000	0.71417	0.902000	0.35471	0.980000	0.70556	7.341000	0.79300	2.716000	0.92895	0.561000	0.74099	GGC		0.562	NIPSNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322117.1			T	29956774	C	T	29956774	3	4	708	1	0	0	0	0	1	0	0	0	10431	623	22	2	211	2	NIPSNAP1	22	29956774	Missense_Mutation	SNP	C	TCGA-KL-8339-01A-11D-2310-10		29956774	21347792	99	39545											
ELAVL4	1996	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	1	50659551	50659551	+	Missense_Mutation	SNP	C	C	T	rs138779266		TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr1:50659551C>T	ENST00000371823.4	+	4	693	c.469C>T	c.(469-471)Cgt>Tgt	p.R157C	ELAVL4_ENST00000371819.1_Missense_Mutation_p.R162C|ELAVL4_ENST00000357083.4_Missense_Mutation_p.R174C|ELAVL4_ENST00000448907.2_Missense_Mutation_p.R160C|ELAVL4_ENST00000371821.1_Missense_Mutation_p.R162C|ELAVL4_ENST00000371827.1_Missense_Mutation_p.R157C|ELAVL4_ENST00000371824.1_Missense_Mutation_p.R157C	NM_001144774.1|NM_021952.3	NP_001138246.1|NP_068771.2	P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	157	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA processing (GO:0006396)		AU-rich element binding (GO:0017091)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						GCAATACGGCCGTATCATCAC	0.453																																																0								C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	191	166	174		469,520,469,478,469	6.1	1	1	dbSNP_134	174	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	ELAVL4	NM_001144774.1,NM_001144775.1,NM_001144776.1,NM_001144777.1,NM_021952.3	180,180,180,180,180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	157/367,174/384,157/367,160/370,157/381	50659551	1,13005	2203	4300	6503	SO:0001583	missense	1996			AY033998	CCDS553.1, CCDS44138.1, CCDS44139.1, CCDS44140.1, CCDS53315.1, CCDS72788.1	1p34	2013-10-03	2013-10-03		ENSG00000162374	ENSG00000162374		"RNA binding motif (RRM) containing"	3315	protein-coding gene	gene with protein product	"Hu antigen D"	168360	"ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D)", "ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4"	HUD		8222755	Standard	XM_005270581		Approved	PNEM	uc001csb.2	P26378	OTTHUMG00000007877	ENST00000371823.4:c.469C>T	1.37:g.50659551C>T	ENSP00000360888:p.Arg157Cys		B1APY6|B1APY7|B7Z4G7|Q8IYD4|Q96J74|Q96J75|Q9UD24	Missense_Mutation	SNP	ENST00000371823.4	37	CCDS553.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.838760	0.91117	2.27E-4	0.0	ENSG00000162374	ENST00000448907;ENST00000371827;ENST00000357083;ENST00000371824;ENST00000371823;ENST00000371821;ENST00000371819	T;T;T;T;T;T;T	0.16897	2.31;2.31;2.31;2.31;2.31;2.31;2.31	6.11	6.11	0.99139	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.40322	0.1112	L	0.51422	1.61	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;1.0;0.999;1.0;0.999;0.998;0.998	P;D;P;P;P;P;P	0.72075	0.887;0.976;0.787;0.887;0.819;0.819;0.887	T	0.02574	-1.1139	10	0.87932	D	0	.	20.7342	0.99715	0.0:1.0:0.0:0.0	.	162;162;157;157;174;157;160	B1APY9;B1APY8;P26378-2;P26378;P26378-3;P26378-4;B7Z4G7	.;.;.;ELAV4_HUMAN;.;.;.	C	160;157;174;157;157;162;162	ENSP00000399939:R160C;ENSP00000360892:R157C;ENSP00000349594:R174C;ENSP00000360889:R157C;ENSP00000360888:R157C;ENSP00000360886:R162C;ENSP00000360884:R162C	ENSP00000349594:R174C	R	+	1	0	ELAVL4	50432138	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.770000	0.85390	2.906000	0.99361	0.655000	0.94253	CGT		0.453	ELAVL4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000021712.1	NM_021952		T	50659551	C	T	50659551	3	4	709	1	0	0	0	0	1	0	0	0	5054	652	23	1	582	1	ELAVL4	1	50659551	Missense_Mutation	SNP	C	TCGA-KL-8340-01A-11D-2310-10		50659551	198591070	1	39546											
MEIS1	4211	broad.mit.edu	37	2	66667033	66667033	+	Missense_Mutation	SNP	A	A	C			TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr2:66667033A>C	ENST00000272369.9	+	3	755	c.298A>C	c.(298-300)Acc>Ccc	p.T100P	MEIS1_ENST00000407092.2_Missense_Mutation_p.T100P|MEIS1-AS1_ENST00000454595.1_RNA|MEIS1_ENST00000488550.1_Missense_Mutation_p.T100P|MEIS1_ENST00000398506.2_Missense_Mutation_p.T98P|MEIS1-AS2_ENST00000439433.1_RNA|MEIS1_ENST00000495021.2_Missense_Mutation_p.T35P|MEIS1_ENST00000444274.2_Missense_Mutation_p.T68P|MEIS1_ENST00000560281.2_Missense_Mutation_p.T100P	NM_002398.2	NP_002389.1	O00470	MEIS1_HUMAN	Meis homeobox 1	100					angiogenesis (GO:0001525)|definitive hemopoiesis (GO:0060216)|lens morphogenesis in camera-type eye (GO:0002089)|megakaryocyte development (GO:0035855)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron differentiation (GO:0045665)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						AGCTACTTGTACCCCCCGCGA	0.483																																																0													64	58	60					2																	66667033		1809	4073	5882	SO:0001583	missense	4211				CCDS46309.1	2p14	2011-06-20	2007-02-15		ENSG00000143995	ENSG00000143995		"Homeoboxes / TALE class"	7000	protein-coding gene	gene with protein product		601739	"Meis1 (mouse) homolog", "Meis1, myeloid ecotropic viral integration site 1 homolog (mouse)"			7565694	Standard	NM_002398		Approved		uc002sdu.3	O00470	OTTHUMG00000150714	ENST00000272369.9:c.298A>C	2.37:g.66667033A>C	ENSP00000272369:p.Thr100Pro		A8MV50	Missense_Mutation	SNP	ENST00000272369.9	37	CCDS46309.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.749006	0.89753	.	.	ENSG00000143995	ENST00000272369;ENST00000407092;ENST00000398506;ENST00000444274;ENST00000495021	T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44	5.38	5.38	0.77491	.	0.104975	0.64402	D	0.000006	T	0.46386	0.1390	M	0.68593	2.085	0.58432	D	0.999998	P;B;P;P	0.52316	0.952;0.255;0.865;0.554	P;P;P;P	0.52909	0.713;0.454;0.501;0.454	T	0.49551	-0.8928	10	0.87932	D	0	.	15.2365	0.73436	1.0:0.0:0.0:0.0	.	35;98;100;100	F5GYS8;O00470-2;O00470;F8W8U3	.;.;MEIS1_HUMAN;.	P	100;100;98;68;35	ENSP00000272369:T100P;ENSP00000384461:T100P;ENSP00000381518:T98P;ENSP00000403206:T68P;ENSP00000440571:T35P	ENSP00000272369:T100P	T	+	1	0	MEIS1	66520537	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	9.105000	0.94246	2.254000	0.74563	0.533000	0.62120	ACC		0.483	MEIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319725.4	NM_002398		C	66667033	A	C	66667033	3	2	709	1	0	0	0	0	1	0	0	0	9469	391	14	5	308	5	MEIS1	2	66667033	Missense_Mutation	SNP	A	TCGA-KL-8340-01A-11D-2310-10		66667033	176532340	2	39547											
ZNF638	27332	broad.mit.edu	37	2	71653715	71653715	+	Silent	SNP	T	T	A			TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr2:71653715T>A	ENST00000409544.1	+	24	5346	c.4716T>A	c.(4714-4716)gtT>gtA	p.V1572V	ZNF638_ENST00000264447.4_Silent_p.V1572V|ZNF638_ENST00000409407.1_Silent_p.V512V|ZNF638_ENST00000355812.3_3'UTR	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1572					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						TCAAAAATGTTCCTTTCTCTG	0.393																																																0													84	84	84					2																	71653715		2203	4300	6503	SO:0001819	synonymous_variant	27332			D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"RNA binding motif (RRM) containing"	17894	protein-coding gene	gene with protein product		614349	"zinc finger, matrin-like"	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.4716T>A	2.37:g.71653715T>A			B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Silent	SNP	ENST00000409544.1	37	CCDS1917.1																																																																																				0.393	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		A	71653715	T	A	71653715	2	1	709	1	0	0	0	0	0	0	0	1	18060	1770	62	5		5	ZNF638	2	71653715	Silent	SNP	T	TCGA-KL-8340-01A-11D-2310-10	4986682	71653715	171545658	3	39548											
SLC4A5	57835	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	2	74454137	74454137	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr2:74454137C>T	ENST00000377634.4	-	28	3484	c.3085G>A	c.(3085-3087)Gcg>Acg	p.A1029T	SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000394019.2_Missense_Mutation_p.A1013T|SLC4A5_ENST00000357822.5_Missense_Mutation_p.A1029T|SLC4A5_ENST00000359484.4_Missense_Mutation_p.A911T|SLC4A5_ENST00000377632.1_Intron|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000358683.4_Missense_Mutation_p.A911T|SLC4A5_ENST00000346834.4_Intron|SLC4A5_ENST00000423644.1_Missense_Mutation_p.G953D					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						CAGAGCACCGCCAGGCAGAGG	0.647																																																0													72	74	74					2																	74454137		2203	4300	6503	SO:0001583	missense	57835			AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"Solute carriers"	18168	protein-coding gene	gene with protein product		606757	"solute carrier family 4, sodium bicarbonate cotransporter, member 5"			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.3085G>A	2.37:g.74454137C>T	ENSP00000366861:p.Ala1029Thr			Missense_Mutation	SNP	ENST00000377634.4	37	CCDS1936.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.4|24.4	4.528596|4.528596	0.85706|0.85706	.|.	.|.	ENSG00000188687|ENSG00000188687	ENST00000394019;ENST00000451608;ENST00000359484;ENST00000358683;ENST00000357822;ENST00000377634|ENST00000423644;ENST00000425249	T;T;T;T;T|T;T	0.70399|0.72394	-0.48;-0.48;-0.48;-0.48;-0.48|-0.65;-0.38	5.24|5.24	5.24|5.24	0.73138|0.73138	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74382|0.74382	0.3709|0.3709	M|M	0.68952|0.68952	2.095|2.095	0.36027|0.36027	D|D	0.839141|0.839141	P;D;D|P	0.89917|0.50272	0.939;1.0;0.973|0.933	P;D;P|P	0.87578|0.46479	0.857;0.998;0.843|0.518	T|T	0.82822|0.82822	-0.0267|-0.0267	10|9	0.62326|0.87932	D|D	0.03|0	.|.	16.3639|16.3639	0.83307|0.83307	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	911;1029;1013|915	Q9BY07-7;Q9BY07;Q9BY07-3|E7EQT3	.;S4A5_HUMAN;.|.	T|D	1013;1029;911;911;1029;1029|953;915	ENSP00000377587:A1013T;ENSP00000352461:A911T;ENSP00000351513:A911T;ENSP00000350475:A1029T;ENSP00000366861:A1029T|ENSP00000395804:G953D;ENSP00000405678:G915D	ENSP00000350475:A1029T|ENSP00000395804:G953D	A|G	-|-	1|2	0|0	SLC4A5|SLC4A5	74307645|74307645	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.995000|0.995000	0.86356|0.86356	5.920000|5.920000	0.70017|0.70017	2.726000|2.726000	0.93360|0.93360	0.637000|0.637000	0.83480|0.83480	GCG|GGC		0.647	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206583.3			T	74454137	C	T	74454137	3	4	709	1	0	0	0	0	1	0	0	0	14663	739	26	2	344	2	SLC4A5	2	74454137	Missense_Mutation	SNP	C	TCGA-KL-8340-01A-11D-2310-10	2800422	74454137	168745236	4	39549											
NCAPH	23397	broad.mit.edu;mdanderson.org;bcgsc.ca	37	2	97032995	97032995	+	Splice_Site	SNP	G	G	C			TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr2:97032995G>C	ENST00000240423.4	+	15	1925	c.1882G>C	c.(1882-1884)Gta>Cta	p.V628L	NCAPH_ENST00000427946.1_Splice_Site_p.V492L|NCAPH_ENST00000455200.1_Splice_Site_p.V617L	NM_001281710.1|NM_001281711.1|NM_015341.3	NP_001268639.1|NP_001268640.1|NP_056156.2	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	628					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				CCTATTTCAGGTAAATAAAAT	0.363																																																0													71	80	77					2																	97032995		2203	4300	6503	SO:0001630	splice_region_variant	23397			BC024211	CCDS2021.1, CCDS62960.1	2q11.2	2008-02-05	2006-09-04	2006-09-04	ENSG00000121152	ENSG00000121152			1112	protein-coding gene	gene with protein product		602332	"barren (Drosophila) homolog", "barren homolog (Drosophila)", "barren homolog 1 (Drosophila)"	BRRN1		9417923	Standard	NM_015341		Approved	CAP-H, hCAP-H	uc002svz.1	Q15003	OTTHUMG00000130451	ENST00000240423.4:c.1882-1G>C	2.37:g.97032995G>C			B4E189|Q8TB87	Missense_Mutation	SNP	ENST00000240423.4	37	CCDS2021.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.4|24.4	4.522702|4.522702	0.85600|0.85600	.|.	.|.	ENSG00000121152|ENSG00000121152	ENST00000435349|ENST00000240423;ENST00000427946;ENST00000455200	.|T;T;T	.|0.57107	.|0.42;0.42;0.42	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	.|0.054577	.|0.64402	.|D	.|0.000001	T|T	0.67277|0.67277	0.2876|0.2876	M|M	0.76574|0.76574	2.34|2.34	0.80722|0.80722	D|D	1|1	.|P;P	.|0.52692	.|0.955;0.906	.|P;P	.|0.54060	.|0.741;0.576	T|T	0.66881|0.66881	-0.5811|-0.5811	5|9	.|.	.|.	.|.	-16.8261|-16.8261	17.697|17.697	0.88285|0.88285	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|604;628	.|B4DRG7;Q15003	.|.;CND2_HUMAN	A|L	68|628;492;617	.|ENSP00000240423:V628L;ENSP00000400774:V492L;ENSP00000407308:V617L	.|.	G|V	+|+	2|1	0|0	NCAPH|NCAPH	96396722|96396722	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	5.890000|5.890000	0.69774|0.69774	2.785000|2.785000	0.95823|0.95823	0.650000|0.650000	0.86243|0.86243	GGT|GTA		0.363	NCAPH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252842.2	NM_015341	Missense_Mutation	C	97032995	G	C	97032995	5	2	709	1	0	0	0	0	0	0	1	0	10211	1275	44	4	1940	4	NCAPH	2	97032995	Splice_Site	SNP	G	TCGA-KL-8340-01A-11D-2310-10	22578858	97032995	146166378	5	39550											
SLC39A10	57181	hgsc.bcm.edu;bcgsc.ca	37	2	196548601	196548601	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr2:196548601C>T	ENST00000409086.3	+	3	1462	c.1187C>T	c.(1186-1188)cCt>cTt	p.P396L	SLC39A10_ENST00000359634.5_Missense_Mutation_p.P396L|SLC39A10_ENST00000541054.1_5'UTR	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	396					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)			AACCTGGTTCCTGAAGATGAG	0.318																																																0													57	62	60					2																	196548601		2203	4300	6503	SO:0001583	missense	57181				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.1187C>T	2.37:g.196548601C>T	ENSP00000386766:p.Pro396Leu		A8K5C6|B4DGU0|Q3MJA4|Q68CR5|Q6DKH6|Q9Y3Z1	Missense_Mutation	SNP	ENST00000409086.3	37	CCDS33353.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.630975	0.28978	.	.	ENSG00000196950	ENST00000409086;ENST00000359634	T;T	0.67345	-0.26;-0.26	4.84	4.84	0.62591	.	1.226200	0.05271	N	0.517580	T	0.58694	0.2140	L	0.39898	1.24	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.52238	-0.8602	10	0.34782	T	0.22	.	6.9824	0.24709	0.0:0.8523:0.0:0.1477	.	396	Q9ULF5	S39AA_HUMAN	L	396	ENSP00000386766:P396L;ENSP00000352655:P396L	ENSP00000352655:P396L	P	+	2	0	SLC39A10	196256846	1.000000	0.71417	1.000000	0.80357	0.616000	0.37450	2.752000	0.47516	2.511000	0.84671	0.650000	0.86243	CCT		0.318	SLC39A10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335186.1	XM_047707		T	196548601	C	T	196548601	3	4	709	1	0	0	0	0	1	0	0	0	14619	681	24	2	1193	2	SLC39A10	2	196548601	Missense_Mutation	SNP	C	TCGA-KL-8340-01A-11D-2310-10	99515606	196548601	46650772	6	39551											
LMCD1	29995	ucsc.edu;mdanderson.org	37	3	8579024	8579024	+	Silent	SNP	G	G	A			TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr3:8579024G>A	ENST00000157600.3	+	3	517	c.285G>A	c.(283-285)aaG>aaA	p.K95K	LMCD1_ENST00000397386.3_Intron|LMCD1_ENST00000454244.1_Silent_p.K22K|LMCD1_ENST00000535732.1_Silent_p.K95K|LMCD1-AS1_ENST00000439407.1_RNA	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	95					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)		GGATTTACAAGAGGAACCGGA	0.537																																																0													137	142	140					3																	8579024		2203	4300	6503	SO:0001819	synonymous_variant	29995			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.285G>A	3.37:g.8579024G>A			B4DG80	Silent	SNP	ENST00000157600.3	37	CCDS33688.1																																																																																				0.537	LMCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337854.1	NM_014583		A	8579024	G	A	8579024	2	1	709	1	0	0	0	0	0	0	0	1	8846	933	33	2		2	LMCD1	3	8579024	Silent	SNP	G	TCGA-KL-8340-01A-11D-2310-10		8579024	189443406	7	39552											
CELSR3	1951	mdanderson.org	37	3	48694147	48694147	+	Silent	SNP	G	G	A	rs2286651	byFrequency	TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr3:48694147G>A	ENST00000164024.4	-	2	4663	c.4383C>T	c.(4381-4383)tgC>tgT	p.C1461C	CELSR3_ENST00000544264.1_Silent_p.C1461C	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1461	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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)		AGCGCGGGCGGCAGACGCACG	0.697													G|||	499	0.0996406	0.1263	0.0793	5008	,	,		14276	0.1171		0.1183	False		,,,				2504	0.0409															0								G		542,3786		27,488,1649	9	8	9		4383	4.9	1	3	dbSNP_100	9	931,7547		56,819,3364	no	coding-synonymous	CELSR3	NM_001407.2		83,1307,5013	AA,AG,GG		10.9814,12.5231,11.5024		1461/3313	48694147	1473,11333	2164	4239	6403	SO:0001819	synonymous_variant	1951			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3230	protein-coding gene	gene with protein product	"flamingo homolog 1 (Drosophila)"	604264	"cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.4383C>T	3.37:g.48694147G>A			O75092	Silent	SNP	ENST00000164024.4	37	CCDS2775.1																																																																																				0.697	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		A	48694147	G	A	48694147	2	1	709	1	0	0	0	0	0	0	0	1	3225	1195	42	2		2	CELSR3	3	48694147	Silent	SNP	G	TCGA-KL-8340-01A-11D-2310-10	40115123	48694147	149328283	8	39553											
FILIP1L	11259	bcgsc.ca	37	3	99568907	99568907	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr3:99568907T>C	ENST00000354552.3	-	5	2083	c.1613A>G	c.(1612-1614)aAg>aGg	p.K538R	FILIP1L_ENST00000476723.1_Intron|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000471562.1_Missense_Mutation_p.K298R|FILIP1L_ENST00000383694.2_Missense_Mutation_p.K298R|FILIP1L_ENST00000487087.1_Missense_Mutation_p.K114R|FILIP1L_ENST00000331335.5_Missense_Mutation_p.K538R|CMSS1_ENST00000421999.2_Intron	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	538						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						CTCAATTAACTTCTCAGTAAC	0.338																																																0													90	77	81					3																	99568907		1832	4089	5921	SO:0001583	missense	11259				CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"downregulated in ovarian cancer 1", "GPBP-interacting protein of 130 kDa"	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.1613A>G	3.37:g.99568907T>C	ENSP00000346560:p.Lys538Arg		B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Missense_Mutation	SNP	ENST00000354552.3	37	CCDS43117.1	.	.	.	.	.	.	.	.	.	.	T	16.41	3.114546	0.56505	.	.	ENSG00000168386	ENST00000354552;ENST00000487087;ENST00000471562;ENST00000331335;ENST00000383694;ENST00000441620;ENST00000495625	T;T;T;T;T;T	0.47177	0.85;1.58;1.45;0.85;1.45;1.56	5.98	5.98	0.97165	.	0.000000	0.56097	D	0.000039	T	0.53077	0.1774	M	0.79475	2.455	0.54753	D	0.999983	P;B	0.34615	0.459;0.33	B;B	0.34652	0.187;0.091	T	0.55958	-0.8058	10	0.48119	T	0.1	-18.1372	16.4622	0.84064	0.0:0.0:0.0:1.0	.	538;538	Q4L180-2;Q4L180	.;FIL1L_HUMAN	R	538;114;298;538;298;284;298	ENSP00000346560:K538R;ENSP00000417774:K114R;ENSP00000419642:K298R;ENSP00000327880:K538R;ENSP00000373192:K298R;ENSP00000419874:K298R	ENSP00000327880:K538R	K	-	2	0	FILIP1L	101051597	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.173000	0.58249	2.289000	0.77006	0.533000	0.62120	AAG		0.338	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353069.1	NM_014890		C	99568907	T	C	99568907	3	2	709	1	0	0	0	0	1	0	0	0	5897	1609	56	3	1823	3	FILIP1L	3	99568907	Missense_Mutation	SNP	T	TCGA-KL-8340-01A-11D-2310-10	50874760	99568907	98453523	9	39554											
EEFSEC	60678	mdanderson.org	37	3	127872506	127872506	+	Silent	SNP	C	C	T	rs11711710	byFrequency	TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr3:127872506C>T	ENST00000254730.6	+	1	210	c.156C>T	c.(154-156)ggC>ggT	p.G52G	RUVBL1_ENST00000464873.1_5'UTR|EEFSEC_ENST00000483457.1_Silent_p.G52G	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	52	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				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)			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						TCGATCTGGGCTTCTCGTGCT	0.726													C|||	682	0.136182	0.2315	0.134	5008	,	,		11740	0.0069		0.1143	False		,,,				2504	0.1646															0								C		880,3484		96,688,1398	11	14	13		156	4.3	1	3	dbSNP_120	13	1010,7520		57,896,3312	no	coding-synonymous	EEFSEC	NM_021937.3		153,1584,4710	TT,TC,CC		11.8406,20.165,14.658		52/597	127872506	1890,11004	2182	4265	6447	SO:0001819	synonymous_variant	60678				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.156C>T	3.37:g.127872506C>T			Q96HZ6	Silent	SNP	ENST00000254730.6	37	CCDS33849.1																																																																																				0.726	EEFSEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356738.2	NM_021937		T	127872506	C	T	127872506	2	4	709	1	0	0	0	0	0	0	0	1	4933	784	28	2		2	EEFSEC	3	127872506	Silent	SNP	C	TCGA-KL-8340-01A-11D-2310-10	28303599	127872506	70149924	10	39555											
C3orf36	80111	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	3	133647421	133647421	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr3:133647421G>A	ENST00000408895.2	-	1	1235	c.227C>T	c.(226-228)gCg>gTg	p.A76V		NM_025041.2	NP_079317.2	Q3SXR2	CC036_HUMAN	chromosome 3 open reading frame 36	76										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6						GGGGTGTGGCGCGGCCCACTC	0.667																																																0													30	34	32					3																	133647421		2203	4300	6503	SO:0001583	missense	80111			AK025826	CCDS3083.1	3q22.1	2011-09-30			ENSG00000221972	ENSG00000221972			26170	protein-coding gene	gene with protein product						12477932	Standard	NM_025041		Approved	FLJ22173	uc003epz.1	Q3SXR2		ENST00000408895.2:c.227C>T	3.37:g.133647421G>A	ENSP00000386219:p.Ala76Val		Q3SXR3|Q9H6K8	Missense_Mutation	SNP	ENST00000408895.2	37	CCDS3083.1	.	.	.	.	.	.	.	.	.	.	G	9.323	1.058484	0.19987	.	.	ENSG00000221972	ENST00000408895	.	.	.	1.69	-3.38	0.04883	.	.	.	.	.	T	0.14700	0.0355	N	0.08118	0	0.09310	N	1	B	0.24317	0.101	B	0.06405	0.002	T	0.11251	-1.0595	8	0.87932	D	0	.	3.5665	0.07901	0.3568:0.0:0.4466:0.1966	.	76	Q3SXR2	CC036_HUMAN	V	76	.	ENSP00000386219:A76V	A	-	2	0	C3orf36	135130111	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.783000	0.04638	-1.660000	0.01486	-0.823000	0.03104	GCG		0.667	C3orf36-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_025041		A	133647421	G	A	133647421	3	1	709	1	0	0	0	0	1	0	0	0	2228	1087	38	1	274	1	C3orf36	3	133647421	Missense_Mutation	SNP	G	TCGA-KL-8340-01A-11D-2310-10	5774915	133647421	64375009	11	39556											
CENPC1	1060	hgsc.bcm.edu	37	4	68357934	68357934	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr4:68357934C>T	ENST00000273853.6	-	16	2729	c.2479G>A	c.(2479-2481)Gta>Ata	p.V827I		NM_001812.2	NP_001803.2	Q03188	CENPC_HUMAN	centromere protein C	827					chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	centromeric DNA binding (GO:0019237)|DNA binding (GO:0003677)	p.V827L(1)									GGGTCCTTTACCCTCGTTGGC	0.338																																																1	Substitution - Missense(1)	lung(1)											94	83	86					4																	68357934		1826	4089	5915	SO:0001583	missense	1060			M95724	CCDS47063.1	4q13.2	2013-11-05	2013-07-03	2013-07-03	ENSG00000145241	ENSG00000145241			1854	protein-coding gene	gene with protein product		117141	"centromere protein C 1"	CENPC1		7959789	Standard	XR_245245		Approved	CENP-C, hcp-4, MIF2	uc003hdd.1	Q03188	OTTHUMG00000160735	ENST00000273853.6:c.2479G>A	4.37:g.68357934C>T	ENSP00000273853:p.Val827Ile		Q8IW27|Q9P0M5	Missense_Mutation	SNP	ENST00000273853.6	37	CCDS47063.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.898264	0.33535	.	.	ENSG00000145241	ENST00000273853	.	.	.	5.34	3.61	0.41365	Cupin, RmlC-type (1);	0.459555	0.20370	N	0.093673	T	0.28566	0.0707	L	0.31664	0.95	0.09310	N	0.999998	B	0.15141	0.012	B	0.15052	0.012	T	0.16041	-1.0416	9	0.31617	T	0.26	-5.9703	8.3069	0.32047	0.0:0.8169:0.0:0.1831	.	827	Q03188	CENPC_HUMAN	I	827	.	ENSP00000273853:V827I	V	-	1	0	CENPC1	68040529	0.708000	0.27876	0.312000	0.25196	0.994000	0.84299	1.086000	0.30853	0.747000	0.32809	0.563000	0.77884	GTA		0.338	CENPC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362001.2			T	68357934	C	T	68357934	3	4	709	1	0	0	0	0	1	0	0	0	3231	507	18	2	368	2	CENPC1	4	68357934	Missense_Mutation	SNP	C	TCGA-KL-8340-01A-11D-2310-10		68357934	122796342	12	39557											
KIAA0947	23379	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	5	5464930	5464930	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr5:5464930A>G	ENST00000296564.7	+	13	5705	c.5483A>G	c.(5482-5484)cAg>cGg	p.Q1828R		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1828					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						TTGGGGACTCAGCAGGATTCA	0.498																																																0													39	42	41					5																	5464930		1989	4184	6173	SO:0001583	missense	23379																														ENST00000296564.7:c.5483A>G	5.37:g.5464930A>G	ENSP00000296564:p.Gln1828Arg		Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	ENST00000296564.7	37	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	A	4.793	0.147435	0.09134	.	.	ENSG00000164151	ENST00000296564	T	0.11169	2.8	4.66	0.709	0.18150	.	.	.	.	.	T	0.05731	0.0150	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.42155	-0.9468	9	0.29301	T	0.29	0.1943	6.0771	0.19921	0.5811:0.3301:0.0888:0.0	.	1828	Q9Y2F5	K0947_HUMAN	R	1828	ENSP00000296564:Q1828R	ENSP00000296564:Q1828R	Q	+	2	0	KIAA0947	5517930	0.000000	0.05858	0.003000	0.11579	0.332000	0.28634	0.673000	0.25203	-0.122000	0.11766	0.383000	0.25322	CAG		0.498	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			G	5464930	A	G	5464930	3	3	709	1	0	0	0	0	1	0	0	0	8204	188	7	3	5533	3	KIAA0947	5	5464930	Missense_Mutation	SNP	A	TCGA-KL-8340-01A-11D-2310-10		5464930	175450330	13	39558											
DDX4	54514	broad.mit.edu	37	5	55111195	55111195	+	Missense_Mutation	SNP	C	C	T	rs373207863		TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr5:55111195C>T	ENST00000505374.1	+	21	2133	c.2041C>T	c.(2041-2043)Cct>Tct	p.P681S	DDX4_ENST00000354991.5_Missense_Mutation_p.P647S|DDX4_ENST00000514278.2_Missense_Mutation_p.P661S|DDX4_ENST00000511853.1_Missense_Mutation_p.P532S|DDX4_ENST00000353507.5_Missense_Mutation_p.P647S	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	681					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)				TACATACATTCCTGGCTTCAG	0.353																																																0								C	SER/PRO,SER/PRO,SER/PRO,SER/PRO	0,4406		0,0,2203	142	137	138		1939,1981,1594,2041	4.6	1	5		138	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	DDX4	NM_001142549.1,NM_001166533.1,NM_001166534.1,NM_024415.2	74,74,74,74	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	647/691,661/705,532/576,681/725	55111195	1,13005	2203	4300	6503	SO:0001583	missense	54514			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.2041C>T	5.37:g.55111195C>T	ENSP00000424838:p.Pro681Ser		A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	Missense_Mutation	SNP	ENST00000505374.1	37	CCDS3969.1	.	.	.	.	.	.	.	.	.	.	C	8.888	0.953287	0.18431	0.0	1.16E-4	ENSG00000152670	ENST00000353507;ENST00000514278;ENST00000505374;ENST00000354991;ENST00000511853	T;T;T;T;T	0.20598	2.08;2.08;2.06;2.08;2.08	5.42	4.55	0.56014	.	0.307172	0.29853	N	0.011023	T	0.13756	0.0333	N	0.10645	0.015	0.26273	N	0.978392	B;B;D	0.58620	0.004;0.009;0.983	B;B;P	0.53102	0.004;0.018;0.718	T	0.09292	-1.0681	10	0.10377	T	0.69	-12.868	6.8119	0.23809	0.3159:0.603:0.0:0.0811	.	532;647;681	E9PCD8;Q9NQI0-2;Q9NQI0	.;.;DDX4_HUMAN	S	647;661;681;647;532	ENSP00000334167:P647S;ENSP00000425359:P661S;ENSP00000424838:P681S;ENSP00000347087:P647S;ENSP00000423123:P532S	ENSP00000334167:P647S	P	+	1	0	DDX4	55146952	0.218000	0.23608	0.965000	0.40720	0.783000	0.44284	0.283000	0.18846	1.271000	0.44313	0.563000	0.77884	CCT		0.353	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214147.2	NM_024415		T	55111195	C	T	55111195	3	4	709	1	0	0	0	0	1	0	0	0	4362	855	30	2	2160	2	DDX4	5	55111195	Missense_Mutation	SNP	C	TCGA-KL-8340-01A-11D-2310-10	49646265	55111195	125804065	14	39559											
PCDHGA2	56113	broad.mit.edu;mdanderson.org	37	5	140720557	140720557	+	Silent	SNP	C	C	T			TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr5:140720557C>T	ENST00000394576.2	+	1	2019	c.2019C>T	c.(2017-2019)gcC>gcT	p.A673A	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	673	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(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)			ACATCCTGGCCGACCTGGGCA	0.687																																																0													55	64	61					5																	140720557		2203	4298	6501	SO:0001819	synonymous_variant	56113			AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"Cadherins / Protocadherins : Clustered"	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.2019C>T	5.37:g.140720557C>T			Q52LL6|Q9Y5D5	Silent	SNP	ENST00000394576.2	37	CCDS47289.1																																																																																				0.687	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		T	140720557	C	T	140720557	2	4	709	1	0	0	0	0	0	0	0	1	11556	639	23	1		1	PCDHGA2	5	140720557	Silent	SNP	C	TCGA-KL-8340-01A-11D-2310-10	85609362	140720557	40194703	15	39560											
PCDHGB1	56104	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	5	140731460	140731460	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr5:140731460C>T	ENST00000523390.1	+	1	1633	c.1633C>T	c.(1633-1635)Cgc>Tgc	p.R545C	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	545	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(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGAGCCTGCGCGTGTTGGT	0.706																																																0													42	52	49					5																	140731460		2137	4244	6381	SO:0001583	missense	56104			AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"Cadherins / Protocadherins : Clustered"	8708	other	protocadherin	"protocadherin gamma subfamily B, 1, isoform 2"	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.1633C>T	5.37:g.140731460C>T	ENSP00000429273:p.Arg545Cys		Q3SY75|Q9Y5C8	Missense_Mutation	SNP	ENST00000523390.1	37	CCDS54923.1	.	.	.	.	.	.	.	.	.	.	.	12.73	2.024200	0.35701	.	.	ENSG00000254221	ENST00000523390	T	0.54279	0.58	5.39	3.58	0.41010	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.54208	0.1844	M	0.87381	2.88	0.31152	N	0.705383	P;B	0.43750	0.816;0.452	B;B	0.37989	0.233;0.262	T	0.63037	-0.6726	9	0.56958	D	0.05	.	7.9252	0.29870	0.3979:0.5288:0.0:0.0733	.	545;545	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	C	545	ENSP00000429273:R545C	ENSP00000429273:R545C	R	+	1	0	PCDHGB1	140711644	0.002000	0.14202	1.000000	0.80357	0.801000	0.45260	-0.074000	0.11450	0.735000	0.32537	0.563000	0.77884	CGC		0.706	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922		T	140731460	C	T	140731460	3	4	709	1	0	0	0	0	1	0	0	0	11564	768	27	1	1635	1	PCDHGB1	5	140731460	Missense_Mutation	SNP	C	TCGA-KL-8340-01A-11D-2310-10	10903	140731460	40183800	16	39561											
PCDH12	51294	broad.mit.edu	37	5	141331089	141331089	+	Missense_Mutation	SNP	T	T	G			TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr5:141331089T>G	ENST00000231484.3	-	2	4157	c.2947A>C	c.(2947-2949)Aat>Cat	p.N983H	AC005740.6_ENST00000607378.1_RNA	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	983					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)			AAGTACTTATTTCCTCGGTGG	0.557											OREG0016877	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													111	101	105					5																	141331089		2203	4300	6503	SO:0001583	missense	51294			AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"Cadherins / Protocadherins : Non-clustered"	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.2947A>C	5.37:g.141331089T>G	ENSP00000231484:p.Asn983His	1663	Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Missense_Mutation	SNP	ENST00000231484.3	37	CCDS4269.1	.	.	.	.	.	.	.	.	.	.	T	29.4	5.006141	0.93287	.	.	ENSG00000113555	ENST00000231484	T	0.77098	-1.07	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.87569	0.6210	M	0.74881	2.28	0.54753	D	0.999988	D	0.89917	1.0	D	0.87578	0.998	D	0.88768	0.3262	10	0.87932	D	0	.	14.5959	0.68407	0.0:0.0:0.0:1.0	.	983	Q9NPG4	PCD12_HUMAN	H	983	ENSP00000231484:N983H	ENSP00000231484:N983H	N	-	1	0	PCDH12	141311273	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.333000	0.79357	0.533000	0.62120	AAT		0.557	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		G	141331089	T	G	141331089	3	3	709	1	0	0	0	0	1	0	0	0	11512	1841	64	5	619	5	PCDH12	5	141331089	Missense_Mutation	SNP	T	TCGA-KL-8340-01A-11D-2310-10	599629	141331089	39584171	17	39562											
PHACTR1	221692	broad.mit.edu;bcgsc.ca	37	6	12719071	12719071	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr6:12719071G>A	ENST00000379350.1	+	2	224	c.95G>A	c.(94-96)gGa>gAa	p.G32E	PHACTR1_ENST00000379348.2_Missense_Mutation_p.G32E|PHACTR1_ENST00000332995.7_Missense_Mutation_p.G32E			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	32					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)			TACAGTCAAGGAGCTCAAGGT	0.388																																																0													30	28	28					6																	12719071		1822	4076	5898	SO:0001583	missense	221692			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.95G>A	6.37:g.12719071G>A	ENSP00000368655:p.Gly32Glu		A8K1V2|Q3MJ93|Q5JSJ2	Missense_Mutation	SNP	ENST00000379350.1	37		.	.	.	.	.	.	.	.	.	.	G	23.8	4.459506	0.84317	.	.	ENSG00000112137	ENST00000379350;ENST00000379348;ENST00000332995;ENST00000432934	T;T;T	0.43294	0.95;0.95;0.95	6.17	6.17	0.99709	.	0.000000	0.47455	D	0.000235	T	0.42359	0.1199	N	0.14661	0.345	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.996;1.0;0.996;0.998	T	0.50110	-0.8866	10	0.87932	D	0	.	18.0353	0.89301	0.0:0.0:1.0:0.0	.	32;32;32;32	E7ESR5;Q5R356;Q9C0D0;Q9C0D0-2	.;.;PHAR1_HUMAN;.	E	32	ENSP00000368655:G32E;ENSP00000368653:G32E;ENSP00000329880:G32E	ENSP00000329880:G32E	G	+	2	0	PHACTR1	12827057	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.069000	0.71209	2.941000	0.99782	0.655000	0.94253	GGA		0.388	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039876.1	XM_166420		A	12719071	G	A	12719071	3	1	709	1	0	0	0	0	1	0	0	0	11811	1174	41	2	97	2	PHACTR1	6	12719071	Missense_Mutation	SNP	G	TCGA-KL-8340-01A-11D-2310-10		12719071	158395996	18	39563											
MUC21	394263	mdanderson.org	37	6	30955202	30955202	+	Missense_Mutation	SNP	C	C	T	rs2429294	byFrequency	TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr6:30955202C>T	ENST00000376296.3	+	2	1491	c.1250C>T	c.(1249-1251)gCc>gTc	p.A417V	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	417	28 X 15 AA approximate tandem repeats.|Ser-rich.			A -> I (in Ref. 3; AAQ88781 and 4; CAQ08321). {ECO:0000305}.	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						TCCAGTGGGGCCAGCACTGCC	0.622													c|||	404	0.0806709	0.0749	0.1427	5008	,	,		19938	0.0556		0.0805	False		,,,				2504	0.0706															0																																										SO:0001583	missense	394263			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.1250C>T	6.37:g.30955202C>T	ENSP00000365473:p.Ala417Val		B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	ENST00000376296.3	37	CCDS34388.1	217	0.09935897435897435	48	0.0975609756097561	60	0.16574585635359115	55	0.09615384615384616	54	0.0712401055408971	c	9.220	1.033023	0.19590	.	.	ENSG00000204544	ENST00000450707;ENST00000376296	T	0.01804	4.63	3.58	1.78	0.24846	.	.	.	.	.	T	0.00328	0.0010	N	0.03608	-0.345	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.37709	-0.9694	9	0.25106	T	0.35	-0.4275	7.735	0.28808	0.0:0.7843:0.0:0.2157	rs2429294	417	Q5SSG8	MUC21_HUMAN	V	267;417	ENSP00000365473:A417V	ENSP00000365473:A417V	A	+	2	0	MUC21	31063181	0.000000	0.05858	0.001000	0.08648	0.018000	0.09664	-0.835000	0.04386	0.325000	0.23359	-0.225000	0.12378	GCC		0.622	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		T	30955202	C	T	30955202	3	4	709	1	0	0	0	0	1	0	0	0	9979	739	26	2	1256	2	MUC21	6	30955202	Missense_Mutation	SNP	C	TCGA-KL-8340-01A-11D-2310-10	18236131	30955202	140159865	19	39564											
KIAA1244	57221	ucsc.edu	37	6	138483249	138483249	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr6:138483249A>G	ENST00000251691.4	+	1	192	c.26A>G	c.(25-27)cAg>cGg	p.Q9R		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)		AGGAAGCTGCAGAAGGAGGCG	0.701																																																0													39	48	45					6																	138483249		1918	4134	6052	SO:0001583	missense	57221			AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	21213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 33"		"chromosome 6 open reading frame 92"	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.26A>G	6.37:g.138483249A>G	ENSP00000251691:p.Gln9Arg			Missense_Mutation	SNP	ENST00000251691.4	37	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	A	23.7	4.450976	0.84209	.	.	ENSG00000112379	ENST00000251691	T	0.18174	2.23	4.07	4.07	0.47477	.	.	.	.	.	T	0.17323	0.0416	L	0.40543	1.245	0.40639	D	0.981929	D	0.54601	0.967	P	0.62382	0.901	T	0.01401	-1.1364	9	0.39692	T	0.17	-11.7155	12.2239	0.54449	1.0:0.0:0.0:0.0	.	9	Q5TH69	BIG3_HUMAN	R	9	ENSP00000251691:Q9R	ENSP00000251691:Q9R	Q	+	2	0	KIAA1244	138524942	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.816000	0.75247	1.487000	0.48415	0.374000	0.22700	CAG		0.701	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		G	138483249	A	G	138483249	3	3	709	1	0	0	0	0	1	0	0	0	8219	188	7	3	28	3	KIAA1244	6	138483249	Missense_Mutation	SNP	A	TCGA-KL-8340-01A-11D-2310-10	107528047	138483249	32631818	20	39565											
KIAA1244	57221	bcgsc.ca	37	6	138583938	138583938	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr6:138583938C>T	ENST00000251691.4	+	12	1484	c.1318C>T	c.(1318-1320)Ctc>Ttc	p.L440F		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)		CCTGGATGAGCTCAGCCAGGG	0.587																																																0													98	89	92					6																	138583938		2203	4300	6503	SO:0001583	missense	57221			AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	21213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 33"		"chromosome 6 open reading frame 92"	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.1318C>T	6.37:g.138583938C>T	ENSP00000251691:p.Leu440Phe			Missense_Mutation	SNP	ENST00000251691.4	37	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	C	18.70	3.680008	0.68042	.	.	ENSG00000112379	ENST00000251691	T	0.05025	3.51	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.18467	0.0443	M	0.72894	2.215	0.58432	D	0.999991	D	0.76494	0.999	D	0.80764	0.994	T	0.00262	-1.1867	10	0.87932	D	0	-23.6865	17.8491	0.88739	0.0:1.0:0.0:0.0	.	440	Q5TH69	BIG3_HUMAN	F	440	ENSP00000251691:L440F	ENSP00000251691:L440F	L	+	1	0	KIAA1244	138625631	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	7.313000	0.78978	2.639000	0.89480	0.655000	0.94253	CTC		0.587	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		T	138583938	C	T	138583938	3	4	709	1	0	0	0	0	1	0	0	0	8219	797	28	2	1364	2	KIAA1244	6	138583938	Missense_Mutation	SNP	C	TCGA-KL-8340-01A-11D-2310-10	100689	138583938	32531129	21	39566											
PEX3	8504	broad.mit.edu	37	6	143780275	143780275	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr6:143780275A>G	ENST00000367591.4	+	2	190	c.127A>G	c.(127-129)Agg>Ggg	p.R43G		NM_003630.2	NP_003621.1	P56589	PEX3_HUMAN	peroxisomal biogenesis factor 3	43	Targeting to peroxisomes.				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)		AATACAGGAAAGGGAGGCTGC	0.343																																																0													109	105	106					6																	143780275		2203	4300	6503	SO:0001583	missense	8504			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.127A>G	6.37:g.143780275A>G	ENSP00000356563:p.Arg43Gly		Q6FGP5	Missense_Mutation	SNP	ENST00000367591.4	37	CCDS5199.1	.	.	.	.	.	.	.	.	.	.	A	13.95	2.390393	0.42410	.	.	ENSG00000034693	ENST00000367591	T	0.53640	0.61	5.76	5.76	0.90799	.	0.153254	0.56097	D	0.000036	T	0.34454	0.0898	M	0.66378	2.025	0.58432	D	0.999999	B;B	0.10296	0.002;0.003	B;B	0.20184	0.028;0.003	T	0.34502	-0.9826	10	0.54805	T	0.06	-10.4094	12.7856	0.57502	0.8544:0.1456:0.0:0.0	.	43;43	B4DV31;P56589	.;PEX3_HUMAN	G	43	ENSP00000356563:R43G	ENSP00000356563:R43G	R	+	1	2	PEX3	143821968	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.367000	0.59498	2.197000	0.70478	0.482000	0.46254	AGG		0.343	PEX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042525.1			G	143780275	A	G	143780275	3	3	709	1	0	0	0	0	1	0	0	0	11749	63	3	3	133	3	PEX3	6	143780275	Missense_Mutation	SNP	A	TCGA-KL-8340-01A-11D-2310-10	5196337	143780275	27334792	22	39567											
TCP1	6950	broad.mit.edu;ucsc.edu;mdanderson.org	37	6	160200278	160200278	+	Silent	SNP	C	C	T			TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr6:160200278C>T	ENST00000321394.7	-	12	1750	c.1470G>A	c.(1468-1470)ttG>ttA	p.L490L	SNORA20_ENST00000384662.1_RNA|TCP1_ENST00000544255.1_Silent_p.L266L|TCP1_ENST00000392168.2_Silent_p.L335L|TCP1_ENST00000420894.2_3'UTR	NM_030752.2	NP_110379.2	P17987	TCPA_HUMAN	t-complex 1	490					'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)|tubulin complex assembly (GO:0007021)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|nuclear heterochromatin (GO:0005720)|pericentriolar material (GO:0000242)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		TACCATTGCTCAAATCAAGAC	0.373																																																0													89	91	90					6																	160200278		2203	4300	6503	SO:0001819	synonymous_variant	6950			X52882	CCDS5269.1, CCDS43522.1	6q25-q27	2012-10-02			ENSG00000120438	ENSG00000120438		"Heat Shock Proteins / Chaperonins"	11655	protein-coding gene	gene with protein product		186980				3476253, 3653076	Standard	NM_030752		Approved	D6S230E, CCT1, Ccta	uc003qsr.3	P17987	OTTHUMG00000015937	ENST00000321394.7:c.1470G>A	6.37:g.160200278C>T			E1P5B2|Q15556|Q5TCM3	Silent	SNP	ENST00000321394.7	37	CCDS5269.1																																																																																				0.373	TCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042917.2	NM_030752		T	160200278	C	T	160200278	2	4	709	1	0	0	0	0	0	0	0	1	15714	825	29	2		2	TCP1	6	160200278	Silent	SNP	C	TCGA-KL-8340-01A-11D-2310-10	16420003	160200278	10914789	23	39568											
GLI3	2737	broad.mit.edu	37	7	42079819	42079819	+	Silent	SNP	G	G	T			TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr7:42079819G>T	ENST00000395925.3	-	7	930	c.846C>A	c.(844-846)ccC>ccA	p.P282P	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	282					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						CTGACAGCCTGGGGCTGGAGA	0.468									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																																							0													120	114	116					7																	42079819		2203	4300	6503	SO:0001819	synonymous_variant	2737	Familial Cancer Database	;		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.846C>A	7.37:g.42079819G>T			A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Silent	SNP	ENST00000395925.3	37	CCDS5465.1																																																																																				0.468	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		T	42079819	G	T	42079819	2	4	709	1	0	0	0	0	0	0	0	1	6441	1335	47	4		4	GLI3	7	42079819	Silent	SNP	G	TCGA-KL-8340-01A-11D-2310-10		42079819	117058844	24	39569											
ESRP1	54845	bcgsc.ca	37	8	95683886	95683886	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr8:95683886T>C	ENST00000433389.2	+	11	1629	c.1439T>C	c.(1438-1440)gTt>gCt	p.V480A	ESRP1_ENST00000454170.2_Missense_Mutation_p.V480A|ESRP1_ENST00000423620.2_Missense_Mutation_p.V480A|ESRP1_ENST00000358397.5_Missense_Mutation_p.V480A	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	480	RRM 3. {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						GTTCACATGGTTTTGAATCAC	0.383																																																0													41	40	40					8																	95683886		1907	4147	6054	SO:0001583	missense	54845			AK000178	CCDS47895.1, CCDS47896.1, CCDS47897.1, CCDS47898.1	8q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000104413	ENSG00000104413		"RNA binding motif (RRM) containing"	25966	protein-coding gene	gene with protein product		612959	"RNA binding motif protein 35A"	RBM35A		12477932	Standard	NM_017697		Approved	FLJ20171	uc003ygq.4	Q6NXG1	OTTHUMG00000164587	ENST00000433389.2:c.1439T>C	8.37:g.95683886T>C	ENSP00000405738:p.Val480Ala		A6NHA8|A8MPX1|E9PB47|Q2M2B0|Q499G3|Q6PJ86|Q9NXL8	Missense_Mutation	SNP	ENST00000433389.2	37	CCDS47897.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.473443	0.84640	.	.	ENSG00000104413	ENST00000423620;ENST00000433389;ENST00000358397;ENST00000454170;ENST00000517610	T;T;T;T;T	0.08807	3.05;3.05;3.05;3.05;3.05	4.98	4.98	0.66077	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	T	0.29355	0.0731	M	0.75447	2.3	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	0.992;0.999;0.994;0.999;0.997;0.996	T	0.02813	-1.1107	10	0.72032	D	0.01	-14.9747	14.9737	0.71254	0.0:0.0:0.0:1.0	.	480;480;480;480;480;480	D7PBN3;Q6NXG1-4;Q6NXG1-2;E9PB47;Q6NXG1-3;Q6NXG1	.;.;.;.;.;ESRP1_HUMAN	A	480;480;480;480;339	ENSP00000407349:V480A;ENSP00000405738:V480A;ENSP00000351168:V480A;ENSP00000402766:V480A;ENSP00000429125:V339A	ENSP00000351168:V480A	V	+	2	0	ESRP1	95753062	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.040000	0.89188	1.981000	0.57761	0.460000	0.39030	GTT		0.383	ESRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379326.1	NM_017697		C	95683886	T	C	95683886	3	2	709	1	0	0	0	0	1	0	0	0	5260	1725	60	3	1481	3	ESRP1	8	95683886	Missense_Mutation	SNP	T	TCGA-KL-8340-01A-11D-2310-10		95683886	50680136	25	39570											
NFKBIL2	4796	mdanderson.org	37	8	145661320	145661320	+	Silent	SNP	G	G	A	rs2721140	byFrequency	TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr8:145661320G>A	ENST00000409379.3	-	17	2525	c.2496C>T	c.(2494-2496)gcC>gcT	p.A832A	AC084125.4_ENST00000544423.1_RNA|AC084125.4_ENST00000442850.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	832					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						GCCAGTCCCCGGCCAGGCACT	0.741													g|||	2347	0.46865	0.4115	0.438	5008	,	,		13786	0.4246		0.4662	False		,,,				2504	0.6155															0										1747,2459		402,943,758	8	11	10		2496	-8.9	0	8	dbSNP_100	10	3725,4593		923,1879,1357	no	coding-synonymous	TONSL	NM_013432.4		1325,2822,2115	AA,AG,GG		44.7824,41.5359,43.6921		832/1379	145661320	5472,7052	2103	4159	6262	SO:0001819	synonymous_variant	4796				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.2496C>T	8.37:g.145661320G>A			B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Silent	SNP	ENST00000409379.3	37	CCDS34968.2																																																																																				0.741	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329668.2	NM_013432		A	145661320	G	A	145661320	2	1	709	1	0	0	0	0	0	0	0	1	10384	1103	39	1		1	NFKBIL2	8	145661320	Silent	SNP	G	TCGA-KL-8340-01A-11D-2310-10	49977434	145661320	702702	26	39571											
IFNA7	3444	mdanderson.org	37	9	21202040	21202040	+	Missense_Mutation	SNP	G	G	C	rs200751233	byFrequency	TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr9:21202040G>C	ENST00000239347.3	-	1	164	c.125C>G	c.(124-126)gCa>gGa	p.A42G		NM_021057.2	NP_066401.2	P01567	IFNA7_HUMAN	interferon, alpha 7	42					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)		TCCCATTTGTGCCAGGAGTAT	0.507													G|||	24	0.00479233	0.0015	0.0	5008	,	,		19378	0.0179		0.004	False		,,,				2504	0.0															0													116	114	115					9																	21202040		2203	4300	6503	SO:0001583	missense	3444				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.125C>G	9.37:g.21202040G>C	ENSP00000239347:p.Ala42Gly		Q14607|Q5VV14	Missense_Mutation	SNP	ENST00000239347.3	37	CCDS34995.1	.	.	.	.	.	.	.	.	.	.	G	0.466	-0.886593	0.02511	.	.	ENSG00000214042	ENST00000239347	T	0.05139	3.49	3.56	-1.74	0.08056	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.761996	0.12212	N	0.489217	T	0.02688	0.0081	N	0.11560	0.145	0.09310	N	1	B	0.02656	0.0	B	0.12837	0.008	T	0.48468	-0.9033	10	0.11182	T	0.66	.	6.4322	0.21803	0.0:0.1783:0.5382:0.2835	.	42	P01567	IFNA7_HUMAN	G	42	ENSP00000239347:A42G	ENSP00000239347:A42G	A	-	2	0	IFNA7	21192040	0.000000	0.05858	0.032000	0.17829	0.205000	0.24178	-1.756000	0.01813	-0.160000	0.11002	0.586000	0.80456	GCA		0.507	IFNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051891.1	NM_021057		C	21202040	G	C	21202040	3	2	709	1	0	0	0	0	1	0	0	0	7544	1319	46	4	448	4	IFNA7	9	21202040	Missense_Mutation	SNP	G	TCGA-KL-8340-01A-11D-2310-10		21202040	120011391	27	39572			1	76		2	2	34	N	G_C	5.756253e-05
IFNA7	3444	mdanderson.org	37	9	21202073	21202073	+	Missense_Mutation	SNP	C	C	G	rs76903863	byFrequency	TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr9:21202073C>G	ENST00000239347.3	-	1	131	c.92G>C	c.(91-93)aGc>aCc	p.S31T		NM_021057.2	NP_066401.2	P01567	IFNA7_HUMAN	interferon, alpha 7	31					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)		ATTACGCAGGCTGTGGGTCTG	0.502																																																0													95	94	94					9																	21202073		2203	4300	6503	SO:0001583	missense	3444				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.92G>C	9.37:g.21202073C>G	ENSP00000239347:p.Ser31Thr		Q14607|Q5VV14	Missense_Mutation	SNP	ENST00000239347.3	37	CCDS34995.1	.	.	.	.	.	.	.	.	.	.	C	7.904	0.734952	0.15574	.	.	ENSG00000214042	ENST00000239347	T	0.03413	3.94	3.14	-0.052	0.13824	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.925130	0.09173	N	0.838490	T	0.04952	0.0133	M	0.72576	2.205	0.09310	N	1	B	0.18968	0.032	B	0.23574	0.047	T	0.47032	-0.9148	10	0.21540	T	0.41	.	3.1528	0.06494	0.2119:0.5211:0.0:0.2669	.	31	P01567	IFNA7_HUMAN	T	31	ENSP00000239347:S31T	ENSP00000239347:S31T	S	-	2	0	IFNA7	21192073	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.746000	0.04829	0.106000	0.17784	-0.302000	0.09304	AGC		0.502	IFNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051891.1	NM_021057		G	21202073	C	G	21202073	3	3	709	1	0	0	0	0	1	0	0	0	7544	797	28	4	481	4	IFNA7	9	21202073	Missense_Mutation	SNP	C	TCGA-KL-8340-01A-11D-2310-10	33	21202073	120011358	28	39573			1	76		2	2	34	N	G_C	5.756253e-05
TAF1L	138474	broad.mit.edu;mdanderson.org	37	9	32632258	32632258	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr9:32632258T>C	ENST00000242310.4	-	1	3409	c.3320A>G	c.(3319-3321)gAc>gGc	p.D1107G	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1107					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TGAGATGCTGTCTGTGTCAGT	0.438																																																0													190	161	171					9																	32632258		2203	4300	6503	SO:0001583	missense	138474			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.3320A>G	9.37:g.32632258T>C	ENSP00000418379:p.Asp1107Gly		Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	T	15.08	2.728446	0.48833	.	.	ENSG00000122728	ENST00000242310	T	0.18502	2.21	0.479	0.479	0.16796	.	0.000000	0.85682	D	0.000000	T	0.07999	0.0200	N	0.19112	0.55	0.58432	D	0.999991	B	0.10296	0.003	B	0.10450	0.005	T	0.26780	-1.0093	10	0.17369	T	0.5	.	5.1959	0.15236	0.0:1.0E-4:0.0:0.9999	.	1107	Q8IZX4	TAF1L_HUMAN	G	1107	ENSP00000418379:D1107G	ENSP00000418379:D1107G	D	-	2	0	TAF1L	32622258	1.000000	0.71417	0.835000	0.33067	0.464000	0.32679	3.503000	0.53340	0.426000	0.26116	0.164000	0.16699	GAC		0.438	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			C	32632258	T	C	32632258	3	2	709	1	0	0	0	0	1	0	0	0	15528	1667	58	3	2164	3	TAF1L	9	32632258	Missense_Mutation	SNP	T	TCGA-KL-8340-01A-11D-2310-10	11430185	32632258	108581173	29	39574											
GDA	9615	broad.mit.edu	37	9	74828816	74828816	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr9:74828816C>T	ENST00000358399.3	+	5	580	c.487C>T	c.(487-489)Cgg>Tgg	p.R163W	GDA_ENST00000376986.1_Missense_Mutation_p.R121W|GDA_ENST00000545168.1_Missense_Mutation_p.R89W|GDA_ENST00000477618.1_3'UTR|GDA_ENST00000238018.4_Missense_Mutation_p.R163W|GDA_ENST00000376989.3_Missense_Mutation_p.R138W	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	163					guanine catabolic process (GO:0006147)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|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)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	guanine deaminase activity (GO:0008892)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		ATTTGGACAGCGGGCATTTGT	0.348																																																0													114	113	114					9																	74828816		2203	4300	6503	SO:0001583	missense	9615			AF095286	CCDS6641.1, CCDS56576.1, CCDS56577.1	9q21.13	2008-05-14			ENSG00000119125	ENSG00000119125			4212	protein-coding gene	gene with protein product		139260				10075721, 3966794	Standard	NM_001242507		Approved		uc004air.3	Q9Y2T3	OTTHUMG00000020005	ENST00000358399.3:c.487C>T	9.37:g.74828816C>T	ENSP00000351170:p.Arg163Trp		B4DTY5|Q5SZC7|Q9H335|Q9ULG2	Missense_Mutation	SNP	ENST00000358399.3	37	CCDS6641.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.637359	0.67130	.	.	ENSG00000119125	ENST00000545168;ENST00000238018;ENST00000376989;ENST00000376986;ENST00000358399	D;D;D;D;D	0.92299	-3.01;-3.01;-3.01;-3.01;-3.01	5.64	3.72	0.42706	Amidohydrolase 1 (1);	0.000000	0.85682	D	0.000000	D	0.97269	0.9107	H	0.97023	3.925	0.54753	D	0.999982	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97524	1.0075	10	0.87932	D	0	-9.3723	13.4568	0.61204	0.5727:0.4273:0.0:0.0	.	121;163;163	Q5SZC6;Q9Y2T3-3;Q9Y2T3	.;.;GUAD_HUMAN	W	89;163;138;121;163	ENSP00000437972:R89W;ENSP00000238018:R163W;ENSP00000366188:R138W;ENSP00000366185:R121W;ENSP00000351170:R163W	ENSP00000238018:R163W	R	+	1	2	GDA	74018636	0.998000	0.40836	1.000000	0.80357	0.989000	0.77384	0.318000	0.19504	0.671000	0.31185	0.591000	0.81541	CGG		0.348	GDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052633.1			T	74828816	C	T	74828816	3	4	709	1	0	0	0	0	1	0	0	0	6308	759	27	1	505	1	GDA	9	74828816	Missense_Mutation	SNP	C	TCGA-KL-8340-01A-11D-2310-10	42196558	74828816	66384615	30	39575											
LOC645961	645961	broad.mit.edu	37	9	90747122	90747122	+	IGR	SNP	C	C	T			TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr9:90747122C>T								U6 (133872 upstream) : U3 (242061 downstream)																							GTTTGAGCCGCCAAGGCCTGA	0.557																																																0													64	63	63					9																	90747122		692	1591	2283	SO:0001628	intergenic_variant	645961																															9.37:g.90747122C>T				Missense_Mutation	SNP		37																																																																																				0	0.557									T	90747122	C	T	90747122	1	4	709	0	1	0	0	0	0	0	0	0	8885	739	26	2		2	LOC645961	9	90747122	IGR	SNP	C	TCGA-KL-8340-01A-11D-2310-10	15918306	90747122	50466309	31	39576											
SPTAN1	6709	bcgsc.ca	37	9	131388829	131388829	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr9:131388829T>C	ENST00000372731.4	+	48	6534	c.6424T>C	c.(6424-6426)Tct>Cct	p.S2142P	SPTAN1_ENST00000358161.5_Missense_Mutation_p.S2147P|SPTAN1_ENST00000372739.3_Missense_Mutation_p.S2147P	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	2142					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						CTCCCTCAGCTCTGCCCAGGC	0.597																																					NSCLC(120;833 1744 2558 35612 37579)											0													49	52	51					9																	131388829		2203	4300	6503	SO:0001583	missense	6709			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"EF-hand domain containing"	11273	protein-coding gene	gene with protein product	"alpha-fodrin"	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.6424T>C	9.37:g.131388829T>C	ENSP00000361816:p.Ser2142Pro		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.268976	0.80469	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719;ENST00000372721	T;T;T	0.65549	-0.16;-0.16;-0.16	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.77532	0.4144	M	0.70595	2.14	0.80722	D	1	D;D;D	0.76494	0.999;0.981;0.99	D;D;D	0.68621	0.951;0.959;0.948	T	0.79876	-0.1618	10	0.62326	D	0.03	.	15.6721	0.77286	0.0:0.0:0.0:1.0	.	2122;2147;2142	Q13813-3;Q13813-2;Q13813	.;.;SPTA2_HUMAN	P	2147;2142;2147;2122;391	ENSP00000350882:S2147P;ENSP00000361816:S2142P;ENSP00000361824:S2147P	ENSP00000350882:S2147P	S	+	1	0	SPTAN1	130428650	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.698000	0.84413	2.099000	0.63709	0.460000	0.39030	TCT		0.597	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		C	131388829	T	C	131388829	3	2	709	1	0	0	0	0	1	0	0	0	15122	1551	54	3	6629	3	SPTAN1	9	131388829	Missense_Mutation	SNP	T	TCGA-KL-8340-01A-11D-2310-10	40641707	131388829	9824602	32	39577											
SURF4	6836	broad.mit.edu	37	9	136231848	136231848	+	Silent	SNP	T	T	C			TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr9:136231848T>C	ENST00000371989.3	-	5	540	c.411A>G	c.(409-411)gaA>gaG	p.E137E	SURF4_ENST00000371991.3_Silent_p.E137E|SURF4_ENST00000485435.2_Silent_p.E137E|SURF4_ENST00000467910.1_5'UTR|SURF4_ENST00000545297.1_Intron	NM_001280788.1|NM_001280790.1|NM_001280791.1|NM_033161.2	NP_001267717.1|NP_001267719.1|NP_001267720.1|NP_149351.1	O15260	SURF4_HUMAN	surfeit 4	137					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)		TGCTCTTCCCTTCAGAACGGG	0.572																																																0													55	44	48					9																	136231848		2203	4300	6503	SO:0001819	synonymous_variant	6836				CCDS6968.1, CCDS65177.1, CCDS65178.1, CCDS75929.1	9q33-q34	2008-07-21			ENSG00000148248	ENSG00000148248			11476	protein-coding gene	gene with protein product	"surfeit locus protein 4", "surface 4 integral membrane protein"	185660				8499913, 7540914	Standard	NM_033161		Approved	ERV29, FLJ22993, MGC102753	uc004cdj.3	O15260	OTTHUMG00000020868	ENST00000371989.3:c.411A>G	9.37:g.136231848T>C			B7Z6A4|O60923|Q5T8U6|Q9UNZ0|Q9UNZ1	Silent	SNP	ENST00000371989.3	37	CCDS6968.1																																																																																				0.572	SURF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054886.1	NM_033161		C	136231848	T	C	136231848	2	2	709	1	0	0	0	0	0	0	0	1	15410	1606	56	3		3	SURF4	9	136231848	Silent	SNP	T	TCGA-KL-8340-01A-11D-2310-10	4843019	136231848	4981583	33	39578											
ARL5B	221079	broad.mit.edu	37	10	18957460	18957460	+	Splice_Site	SNP	T	T	C			TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr10:18957460T>C	ENST00000377275.3	+	3	342	c.109T>C	c.(109-111)Tta>Cta	p.L37L		NM_178815.3	NP_848930.1	Q96KC2	ARL5B_HUMAN	ADP-ribosylation factor-like 5B	37					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			lung(1)|ovary(1)	2						TTTCAACAGCTTAATGAATGA	0.353																																																0													94	90	91					10																	18957460		2203	4300	6503	SO:0001630	splice_region_variant	221079			AF494061	CCDS7131.1	10p13	2014-05-09	2005-11-03	2005-11-03	ENSG00000165997	ENSG00000165997		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	23052	protein-coding gene	gene with protein product		608909	"ADP-ribosylation factor-like 8"	ARL8		12853149	Standard	XM_005252400		Approved		uc001iqd.1	Q96KC2	OTTHUMG00000017765	ENST00000377275.3:c.108-1T>C	10.37:g.18957460T>C				Silent	SNP	ENST00000377275.3	37	CCDS7131.1																																																																																				0.353	ARL5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047078.1	NM_178815	Silent	C	18957460	T	C	18957460	5	2	709	1	0	0	0	0	0	0	1	0	940	1623	56	3	119	3	ARL5B	10	18957460	Splice_Site	SNP	T	TCGA-KL-8340-01A-11D-2310-10		18957460	116577287	34	39579											
MASTL	84930	broad.mit.edu;bcgsc.ca	37	10	27447559	27447559	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr10:27447559A>G	ENST00000375940.4	+	2	325	c.268A>G	c.(268-270)Agc>Ggc	p.S90G	MASTL_ENST00000375946.4_Missense_Mutation_p.S90G|MASTL_ENST00000342386.6_Missense_Mutation_p.S90G			Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	90	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of protein phosphatase type 2A activity (GO:0034048)|regulation of cell cycle (GO:0051726)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein phosphatase 2A binding (GO:0051721)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACTAAGCAAAAGCCCATTCAT	0.338																																																0													176	171	173					10																	27447559		2203	4300	6503	SO:0001583	missense	84930			BC009107	CCDS7153.1, CCDS53502.1, CCDS53503.1	10p12.1	2005-11-03			ENSG00000120539	ENSG00000120539			19042	protein-coding gene	gene with protein product		608221					Standard	NM_001172303		Approved	FLJ14813, THC2	uc001itm.3	Q96GX5	OTTHUMG00000017855	ENST00000375940.4:c.268A>G	10.37:g.27447559A>G	ENSP00000365107:p.Ser90Gly		Q5T8D5|Q5T8D7|Q8NCD6|Q96SJ5	Missense_Mutation	SNP	ENST00000375940.4	37	CCDS53502.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.738018	0.89573	.	.	ENSG00000120539	ENST00000375946;ENST00000342386;ENST00000375940	T;T;T	0.66280	-0.2;-0.2;-0.2	5.48	5.48	0.80851	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	0.74397	0.3711	L	0.51853	1.615	0.80722	D	1	P;D;D	0.76494	0.84;0.996;0.999	P;D;D	0.81914	0.607;0.975;0.995	T	0.76046	-0.3102	10	0.56958	D	0.05	-19.8091	15.5726	0.76352	1.0:0.0:0.0:0.0	.	90;90;90	Q96GX5-2;Q96GX5;Q96GX5-3	.;GWL_HUMAN;.	G	90	ENSP00000365113:S90G;ENSP00000343446:S90G;ENSP00000365107:S90G	ENSP00000343446:S90G	S	+	1	0	MASTL	27487565	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.524000	0.90579	2.080000	0.62538	0.455000	0.32223	AGC		0.338	MASTL-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047320.1	NM_032844		G	27447559	A	G	27447559	3	3	709	1	0	0	0	0	1	0	0	0	9330	72	3	3	274	3	MASTL	10	27447559	Missense_Mutation	SNP	A	TCGA-KL-8340-01A-11D-2310-10	8490099	27447559	108087188	35	39580											
NRAP	3026	broad.mit.edu;bcgsc.ca	37	10	115348753	115348753	+	3'UTR	SNP	T	T	C			TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr10:115348753T>C	ENST00000351270.3	+	0	2404				NRAP_ENST00000369358.4_Missense_Mutation_p.K1733R|NRAP_ENST00000369360.3_Missense_Mutation_p.K1698R|NRAP_ENST00000360478.3_Missense_Mutation_p.K1690R|HABP2_ENST00000542051.1_3'UTR|NRAP_ENST00000359988.3_Missense_Mutation_p.K1725R	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2						cell adhesion (GO:0007155)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	glycosaminoglycan binding (GO:0005539)|serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)	Hyaluronan(DB08818)	CAGGGCCTTCTTCTTTTTGAC	0.537																																																0													173	161	165					10																	115348753		2203	4300	6503	SO:0001624	3_prime_UTR_variant	4892				CCDS7577.1, CCDS53579.1	10q25.3	2008-08-01	2001-11-28		ENSG00000148702	ENSG00000148702			4798	protein-coding gene	gene with protein product	"plasma hyaluronan binding protein", "factor VII activating protein"	603924	"hyaluronan-binding protein 2"			8827452, 12437095	Standard	NM_004132		Approved	HABP, PHBP, HGFAL, FSAP	uc001lai.4	Q14520	OTTHUMG00000019073	ENST00000351270.3:c.*625T>C	10.37:g.115348753T>C			A8K467|B7Z8U5|F5H5M6|O00663	Missense_Mutation	SNP	ENST00000351270.3	37	CCDS7577.1	.	.	.	.	.	.	.	.	.	.	T	7.613	0.675114	0.14841	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478;ENST00000369350	T;T;T;T	0.18657	2.41;2.41;2.29;2.2	5.66	3.37	0.38596	.	0.208119	0.51477	N	0.000088	T	0.11793	0.0287	L	0.31926	0.97	0.29282	N	0.869937	B;B;B;B	0.11235	0.001;0.002;0.004;0.002	B;B;B;B	0.13407	0.004;0.004;0.009;0.004	T	0.28490	-1.0042	10	0.07325	T	0.83	.	5.8094	0.18457	0.0:0.5019:0.0:0.4981	.	847;1726;1690;1725	B1ANW7;A0AVL2;Q86VF7-4;Q86VF7	.;.;.;NRAP_HUMAN	R	1733;1698;1725;1690;847	ENSP00000358365:K1733R;ENSP00000358367:K1698R;ENSP00000353078:K1725R;ENSP00000353666:K1690R	ENSP00000353078:K1725R	K	-	2	0	NRAP	115338743	1.000000	0.71417	1.000000	0.80357	0.281000	0.26958	1.622000	0.36997	1.186000	0.42985	0.454000	0.30748	AAG		0.537	HABP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050428.1	NM_004132		C	115348753	T	C	115348753	1	2	709	0	1	0	0	0	0	0	0	0	10640	1609	56	3		3	NRAP	10	115348753	3'UTR	SNP	T	TCGA-KL-8340-01A-11D-2310-10	87901194	115348753	20185994	36	39581											
PANX1	24145	broad.mit.edu	37	11	93913343	93913343	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr11:93913343A>G	ENST00000227638.3	+	4	1506	c.1121A>G	c.(1120-1122)aAg>aGg	p.K374R	PANX1_ENST00000436171.2_Missense_Mutation_p.K374R	NM_015368.3	NP_056183.2	Q96RD7	PANX1_HUMAN	pannexin 1	374					calcium ion transport (GO:0006816)|cation transport (GO:0006812)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|protein hexamerization (GO:0034214)|response to ATP (GO:0033198)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	bleb (GO:0032059)|endoplasmic reticulum (GO:0005783)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium channel activity (GO:0005262)|gap junction hemi-channel activity (GO:0055077)|leak channel activity (GO:0022840)|receptor binding (GO:0005102)			endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Probenecid(DB01032)	GGCATGATCAAGATGGATGTT	0.493																																																0													87	80	82					11																	93913343		2201	4298	6499	SO:0001583	missense	24145			AF093239	CCDS8296.1	11q14-q21	2011-12-02			ENSG00000110218	ENSG00000110218		"Ion channels / Pannexins"	8599	protein-coding gene	gene with protein product	"innexin"	608420				14597722	Standard	NM_015368		Approved	MRS1, UNQ2529, PX1	uc001per.3	Q96RD7	OTTHUMG00000167757	ENST00000227638.3:c.1121A>G	11.37:g.93913343A>G	ENSP00000227638:p.Lys374Arg		O75968|Q543A0|Q6UW26|Q96AM9|Q96L77|Q96RS5	Missense_Mutation	SNP	ENST00000227638.3	37	CCDS8296.1	.	.	.	.	.	.	.	.	.	.	A	19.19	3.779361	0.70107	.	.	ENSG00000110218	ENST00000227638;ENST00000436171	T;T	0.22945	1.93;1.93	5.31	4.19	0.49359	.	0.042144	0.85682	N	0.000000	T	0.49406	0.1555	M	0.79475	2.455	0.50313	D	0.999864	D;D	0.71674	0.997;0.998	D;D	0.80764	0.985;0.994	T	0.50709	-0.8796	10	0.72032	D	0.01	-23.8538	10.6165	0.45454	0.9243:0.0:0.0757:0.0	.	374;374	Q96RD7;Q96RD7-2	PANX1_HUMAN;.	R	374	ENSP00000227638:K374R;ENSP00000411461:K374R	ENSP00000227638:K374R	K	+	2	0	PANX1	93552991	1.000000	0.71417	1.000000	0.80357	0.691000	0.40173	4.371000	0.59523	0.874000	0.35823	0.533000	0.62120	AAG		0.493	PANX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396121.1	NM_015368		G	93913343	A	G	93913343	3	3	709	1	0	0	0	0	1	0	0	0	11422	72	3	3	1135	3	PANX1	11	93913343	Missense_Mutation	SNP	A	TCGA-KL-8340-01A-11D-2310-10		93913343	41093173	37	39582											
OR10G7	390265	broad.mit.edu;mdanderson.org	37	11	123909471	123909471	+	Missense_Mutation	SNP	G	G	T			TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr11:123909471G>T	ENST00000330487.5	-	1	246	c.238C>A	c.(238-240)Ctg>Atg	p.L80M		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	80						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)		AAGGTCATCAGCATTTTGGGC	0.537																																																0													139	150	146					11																	123909471		2200	4299	6499	SO:0001583	missense	390265			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.238C>A	11.37:g.123909471G>T	ENSP00000329689:p.Leu80Met		Q6IFE8	Missense_Mutation	SNP	ENST00000330487.5	37	CCDS31705.1	.	.	.	.	.	.	.	.	.	.	G	9.902	1.207174	0.22205	.	.	ENSG00000182634	ENST00000330487	T	0.00441	7.41	3.39	0.353	0.16058	GPCR, rhodopsin-like superfamily (1);	0.188630	0.25810	N	0.028158	T	0.00666	0.0022	M	0.62016	1.91	0.27375	N	0.955584	D	0.89917	1.0	D	0.91635	0.999	T	0.52124	-0.8617	10	0.39692	T	0.17	.	3.5934	0.07997	0.3043:0.0:0.5206:0.1751	.	80	Q8NGN6	O10G7_HUMAN	M	80	ENSP00000329689:L80M	ENSP00000329689:L80M	L	-	1	2	OR10G7	123414681	0.311000	0.24536	0.998000	0.56505	0.726000	0.41606	-0.127000	0.10547	-0.026000	0.13895	-0.463000	0.05309	CTG		0.537	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387271.1	NM_001004463		T	123909471	G	T	123909471	3	4	709	1	0	0	0	0	1	0	0	0	10904	962	34	4	701	4	OR10G7	11	123909471	Missense_Mutation	SNP	G	TCGA-KL-8340-01A-11D-2310-10	29996128	123909471	11097045	38	39583											
DCP1B	196513	broad.mit.edu	37	12	2113565	2113566	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr12:2113565_2113566insC	ENST00000280665.6	-	1	111_112	c.32_33insG	c.(31-33)ggafs	p.G11fs	DCP1B_ENST00000397173.4_5'UTR|DCP1B_ENST00000541700.1_5'UTR|RP5-1096D14.6_ENST00000354425.4_RNA	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	11					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)			CGCGCCCCTTTCCCACCAGGCC	0.649																																																0																																										SO:0001589	frameshift_variant	196513			AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"DCP1 decapping enzyme homolog B (S. cerevisiae)"			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.33dupG	12.37:g.2113568_2113568dupC	ENSP00000280665:p.Gly11fs		B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Frame_Shift_Ins	INS	ENST00000280665.6	37	CCDS31727.1																																																																																				0.649	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	NM_152640		C	2113566	-	C	2113565	7	5	709	1	0	1	1	0	0	0	0	0	4301	1770	62	0	1856	0	DCP1B	12	2113565	Frame_Shift_Ins	INS	-	TCGA-KL-8340-01A-11D-2310-10		2113565	131738330	39	39584											
ZNF384	171017	hgsc.bcm.edu	37	12	6777081	6777081	+	Silent	SNP	C	C	T			TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr12:6777081C>T	ENST00000396801.3	-	11	1740	c.1533G>A	c.(1531-1533)caG>caA	p.Q511Q	ZNF384_ENST00000396799.2_Silent_p.Q450Q|ZNF384_ENST00000396795.1_Silent_p.Q450Q|ZNF384_ENST00000361959.3_Silent_p.Q511Q|RP4-761J14.8_ENST00000586338.1_RNA|RP4-761J14.8_ENST00000589924.1_RNA|ZNF384_ENST00000319770.3_Silent_p.Q434Q|ZNF384_ENST00000355772.4_Silent_p.Q395Q	NM_001135734.2	NP_001129206.1	Q8TF68	ZN384_HUMAN	zinc finger protein 384	511	Gln-rich.				nucleocytoplasmic transport (GO:0006913)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	focal adhesion (GO:0005925)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						gctgctgctgctgctgctgct	0.667			T	"EWSR1, TAF15 "	ALL																																		Dom	yes		12	12p13	171017	zinc finger protein 384 (CIZ/NMP4)		L	0													15	19	18					12																	6777081		2200	4287	6487	SO:0001819	synonymous_variant	171017			U80738	CCDS8557.1, CCDS31732.1, CCDS44817.1	12p12	2013-01-08	2002-05-23	2002-05-24		ENSG00000126746		"Zinc fingers, C2H2-type"	11955	protein-coding gene	gene with protein product		609951	"trinucleotide repeat containing 1"	TNRC1		9225980, 11149472	Standard	NM_001135734		Approved	CAGH1A, CIZ, NMP4, NP	uc010sfh.2	Q8TF68		ENST00000396801.3:c.1533G>A	12.37:g.6777081C>T			O15407|Q7Z722|Q8N938	Silent	SNP	ENST00000396801.3	37	CCDS44817.1																																																																																				0.667	ZNF384-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400712.1			T	6777081	C	T	6777081	2	4	709	1	0	0	0	0	0	0	0	1	17880	796	28	2		2	ZNF384	12	6777081	Silent	SNP	C	TCGA-KL-8340-01A-11D-2310-10	4663516	6777081	127074814	40	39585			2	77		2	2	22	N	C	3.663108e-05
ZNF384	171017	broad.mit.edu	37	12	6777102	6777102	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr12:6777102delC	ENST00000396801.3	-	11	1719	c.1512delG	c.(1510-1512)cagfs	p.Q516fs	ZNF384_ENST00000396799.2_Frame_Shift_Del_p.Q455fs|ZNF384_ENST00000396795.1_Frame_Shift_Del_p.Q455fs|ZNF384_ENST00000361959.3_Frame_Shift_Del_p.Q516fs|RP4-761J14.8_ENST00000586338.1_RNA|RP4-761J14.8_ENST00000589924.1_RNA|ZNF384_ENST00000319770.3_Frame_Shift_Del_p.Q439fs|ZNF384_ENST00000355772.4_Frame_Shift_Del_p.Q400fs	NM_001135734.2	NP_001129206.1	Q8TF68	ZN384_HUMAN	zinc finger protein 384	516	Gln-rich.				nucleocytoplasmic transport (GO:0006913)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	focal adhesion (GO:0005925)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						gctgctgctgctgctgctgct	0.682			T	"EWSR1, TAF15 "	ALL																																		Dom	yes		12	12p13	171017	zinc finger protein 384 (CIZ/NMP4)		L	0													13	16	15					12																	6777102		2189	4276	6465	SO:0001589	frameshift_variant	171017			U80738	CCDS8557.1, CCDS31732.1, CCDS44817.1	12p12	2013-01-08	2002-05-23	2002-05-24		ENSG00000126746		"Zinc fingers, C2H2-type"	11955	protein-coding gene	gene with protein product		609951	"trinucleotide repeat containing 1"	TNRC1		9225980, 11149472	Standard	NM_001135734		Approved	CAGH1A, CIZ, NMP4, NP	uc010sfh.2	Q8TF68		ENST00000396801.3:c.1512delG	12.37:g.6777102delC	ENSP00000380019:p.Gln516fs		O15407|Q7Z722|Q8N938	Frame_Shift_Del	DEL	ENST00000396801.3	37	CCDS44817.1																																																																																				0.682	ZNF384-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400712.1			-	6777102	C	-	6777102	7	5	709	1	0	1	0	1	0	0	0	0	17880	796	28	0	225	0	ZNF384	12	6777102	Frame_Shift_Del	DEL	C	TCGA-KL-8340-01A-11D-2310-10	21	6777102	127074793	41	39586			2	77		2	2	22	N	C	3.663108e-05
CCNT1	904	broad.mit.edu;bcgsc.ca	37	12	49087549	49087549	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr12:49087549C>T	ENST00000261900.3	-	9	1670	c.1448G>A	c.(1447-1449)cGc>cAc	p.R483H		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	483					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						GACTTTTATGCGCATTTTTAT	0.438																																																0													131	128	129					12																	49087549		2203	4300	6503	SO:0001583	missense	904			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.1448G>A	12.37:g.49087549C>T	ENSP00000261900:p.Arg483His		A9XU13|E7EX76|O60581	Missense_Mutation	SNP	ENST00000261900.3	37	CCDS8766.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.411101	0.62399	.	.	ENSG00000129315	ENST00000261900	T	0.22945	1.93	4.89	3.03	0.35002	.	0.105878	0.64402	D	0.000006	T	0.30324	0.0761	L	0.38175	1.15	0.42590	D	0.993247	D	0.69078	0.997	P	0.55161	0.77	T	0.03202	-1.1061	10	0.66056	D	0.02	-3.9863	9.6691	0.40002	0.0:0.7779:0.1419:0.0802	.	483	O60563	CCNT1_HUMAN	H	483	ENSP00000261900:R483H	ENSP00000261900:R483H	R	-	2	0	CCNT1	47373816	0.820000	0.29190	0.989000	0.46669	0.985000	0.73830	1.584000	0.36589	0.558000	0.29135	0.561000	0.74099	CGC		0.438	CCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408853.1	NM_001240		T	49087549	C	T	49087549	3	4	709	1	0	0	0	0	1	0	0	0	2936	768	27	1	736	1	CCNT1	12	49087549	Missense_Mutation	SNP	C	TCGA-KL-8340-01A-11D-2310-10	42310447	49087549	84764346	42	39587											
DDX54	79039	ucsc.edu	37	12	113623117	113623117	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr12:113623117T>C	ENST00000306014.5	-	1	167	c.140A>G	c.(139-141)gAg>gGg	p.E47G	C12orf52_ENST00000548278.1_5'Flank|RP11-545P7.4_ENST00000552525.1_RNA|C12orf52_ENST00000552495.1_5'Flank|C12orf52_ENST00000549621.1_5'Flank|DDX54_ENST00000314045.7_Missense_Mutation_p.E47G	NM_024072.3	NP_076977.3	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	47					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						CGCCTGGATCTCAAACTCGCC	0.726																																																0													10	12	11					12																	113623117		2187	4275	6462	SO:0001583	missense	79039			AF144056	CCDS31907.1, CCDS44984.1	12q24.11	2006-01-30				ENSG00000123064		"DEAD-boxes"	20084	protein-coding gene	gene with protein product		611665				12466272	Standard	NM_001111322		Approved	MGC2835, APR-5, DP97	uc001tuq.4	Q8TDD1	OTTHUMG00000169676	ENST00000306014.5:c.140A>G	12.37:g.113623117T>C	ENSP00000304072:p.Glu47Gly		Q86YT8|Q9BRZ1	Missense_Mutation	SNP	ENST00000306014.5	37	CCDS31907.1	.	.	.	.	.	.	.	.	.	.	T	18.59	3.657116	0.67586	.	.	ENSG00000123064	ENST00000314045;ENST00000306014	T;T	0.10668	2.85;2.86	4.29	4.29	0.51040	.	0.241494	0.33127	N	0.005258	T	0.19725	0.0474	L	0.43152	1.355	0.42114	D	0.991397	D;D	0.69078	0.997;0.976	D;P	0.63283	0.913;0.703	T	0.00945	-1.1505	10	0.38643	T	0.18	.	10.0122	0.41992	0.0:0.0:0.0:1.0	.	47;47	Q8TDD1-2;Q8TDD1	.;DDX54_HUMAN	G	47	ENSP00000323858:E47G;ENSP00000304072:E47G	ENSP00000304072:E47G	E	-	2	0	DDX54	112107500	1.000000	0.71417	0.998000	0.56505	0.210000	0.24377	2.564000	0.45931	1.936000	0.56123	0.379000	0.24179	GAG		0.726	DDX54-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405435.1	NM_024072		C	113623117	T	C	113623117	3	2	709	1	0	0	0	0	1	0	0	0	4374	1551	54	3	2588	3	DDX54	12	113623117	Missense_Mutation	SNP	T	TCGA-KL-8340-01A-11D-2310-10	64535568	113623117	20228778	43	39588											
UBC	7316	broad.mit.edu	37	12	125396280	125396280	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr12:125396280G>A	ENST00000538617.1	-	4	1214	c.898C>T	c.(898-900)Cgc>Tgc	p.R300C	UBC_ENST00000339647.5_Missense_Mutation_p.R680C|UBC_ENST00000536769.1_Missense_Mutation_p.R680C|UBC_ENST00000546120.1_Missense_Mutation_p.R604C|UBC_ENST00000536661.1_5'Flank			P0CG48	UBC_HUMAN	ubiquitin C	680	Ubiquitin-like 4. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CCCCTCAAGCGCAGGACCAAG	0.448																																																0													84	82	83					12																	125396280		2203	4300	6503	SO:0001583	missense	7316				CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"polyubiquitin-C"	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000538617.1:c.898C>T	12.37:g.125396280G>A	ENSP00000443053:p.Arg300Cys		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	ENST00000538617.1	37		.	.	.	.	.	.	.	.	.	.	G	18.57	3.652125	0.67472	.	.	ENSG00000150991	ENST00000536769;ENST00000535460;ENST00000538617;ENST00000541046;ENST00000339647;ENST00000546120;ENST00000544656	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	5.28	4.39	0.52855	Ubiquitin supergroup (1);Ubiquitin (2);	.	.	.	.	D	0.88713	0.6511	M	0.87381	2.88	0.80722	D	1	D;P;D	0.89917	0.996;0.667;1.0	D;B;D	0.81914	0.975;0.009;0.995	D	0.90359	0.4372	9	0.87932	D	0	.	13.4266	0.61028	0.0753:0.0:0.9247:0.0	.	693;528;680	Q66K58;F5H7K6;P0CG48	.;.;UBC_HUMAN	C	680;528;300;604;680;604;148	ENSP00000441543:R680C;ENSP00000443053:R300C;ENSP00000344818:R680C;ENSP00000438394:R604C	ENSP00000344818:R680C	R	-	1	0	UBC	123962233	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.069000	0.71209	1.227000	0.43598	0.462000	0.41574	CGC		0.448	UBC-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000400179.1	NM_021009		A	125396280	G	A	125396280	3	1	709	1	0	0	0	0	1	0	0	0	16847	1087	38	1	23	1	UBC	12	125396280	Missense_Mutation	SNP	G	TCGA-KL-8340-01A-11D-2310-10	11773163	125396280	8455615	44	39589											
TTC9	23508	mdanderson.org	37	14	71109153	71109153	+	Missense_Mutation	SNP	C	C	G	rs4902834	byFrequency	TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr14:71109153C>G	ENST00000256367.2	+	1	650	c.307C>G	c.(307-309)Ccg>Gcg	p.P103A	CTD-2540L5.5_ENST00000553982.1_lincRNA|CTD-2540L5.6_ENST00000500016.1_lincRNA	NM_015351.1	NP_056166.1	Q92623	TTC9A_HUMAN	tetratricopeptide repeat domain 9	103			P -> A (in dbSNP:rs4902834). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9039502}.							skin(1)	1				all cancers(60;0.00545)|BRCA - Breast invasive adenocarcinoma(234;0.00747)|OV - Ovarian serous cystadenocarcinoma(108;0.0538)		GGACTCGCGCCCGGCCTCCCC	0.672													G|||	4215	0.841653	0.9047	0.8991	5008	,	,		8571	0.8442		0.8042	False		,,,				2504	0.7515															0								G	ALA/PRO	3149,341		1419,311,15	6	8	7		307	-7.2	0.1	14	dbSNP_111	7	6647,1125		2853,941,92	no	missense	TTC9	NM_015351.1	27	4272,1252,107	GG,GC,CC		14.475,9.7708,13.0172	benign	103/223	71109153	9796,1466	1745	3886	5631	SO:0001583	missense	23508			D86980	CCDS45132.1	14q24.2	2014-08-12			ENSG00000133985			"Tetratricopeptide (TTC) repeat domain containing"	20267	protein-coding gene	gene with protein product		610488					Standard	NM_015351		Approved	KIAA0227, TTC9A	uc001xmi.2	Q92623	OTTHUMG00000172133	ENST00000256367.2:c.307C>G	14.37:g.71109153C>G	ENSP00000256367:p.Pro103Ala		Q86WT2	Missense_Mutation	SNP	ENST00000256367.2	37	CCDS45132.1	1812	0.8296703296703297	437	0.8882113821138211	330	0.9116022099447514	453	0.791958041958042	592	0.7810026385224275	G	0.069	-1.206605	0.01568	0.902292	0.85525	ENSG00000133985	ENST00000256367	T	0.18657	2.2	4.29	-7.15	0.01521	Tetratricopeptide-like helical (1);	0.478187	0.19869	N	0.104239	T	0.00012	0.0000	N	0.04508	-0.205	0.80722	P	0.0	B	0.06786	0.001	B	0.01281	0.0	T	0.27706	-1.0066	9	0.25106	T	0.35	-13.8871	0.7147	0.00930	0.2371:0.249:0.1297:0.3841	rs4902834;rs17846425;rs17859471;rs57432971;rs4902834	103	Q92623	TTC9A_HUMAN	A	103	ENSP00000256367:P103A	ENSP00000256367:P103A	P	+	1	0	TTC9	70178906	0.110000	0.22057	0.071000	0.20095	0.011000	0.07611	0.182000	0.16900	-2.181000	0.00765	-2.636000	0.00152	CCG		0.672	TTC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417024.1	XM_027236		G	71109153	C	G	71109153	3	3	709	1	0	0	0	0	1	0	0	0	16720	623	22	4	309	4	TTC9	14	71109153	Missense_Mutation	SNP	C	TCGA-KL-8340-01A-11D-2310-10		71109153	36240387	45	39590											
KCNK10	54207	broad.mit.edu;mdanderson.org;bcgsc.ca	37	14	88652066	88652066	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr14:88652066C>T	ENST00000340700.5	-	7	1881	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q	KCNK10_ENST00000312350.5_Missense_Mutation_p.R482Q|KCNK10_ENST00000319231.5_Missense_Mutation_p.R482Q	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	477					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						GGAGTAATTCCGGAAGGTCTT	0.498																																																0													147	146	147					14																	88652066		2203	4300	6503	SO:0001583	missense	54207			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.1430G>A	14.37:g.88652066C>T	ENSP00000343104:p.Arg477Gln		B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Missense_Mutation	SNP	ENST00000340700.5	37	CCDS9880.1	.	.	.	.	.	.	.	.	.	.	C	17.32	3.360250	0.61403	.	.	ENSG00000100433	ENST00000340700;ENST00000312350;ENST00000319231	D;D;D	0.90844	-2.73;-2.74;-2.72	5.71	5.71	0.89125	.	0.845868	0.10735	N	0.640094	D	0.86531	0.5955	L	0.36672	1.1	0.43372	D	0.995465	P;P;P	0.42692	0.787;0.787;0.787	B;B;B	0.32677	0.15;0.105;0.15	D	0.85206	0.1018	10	0.46703	T	0.11	.	18.8558	0.92251	0.0:1.0:0.0:0.0	.	477;482;482	P57789;B2R8T4;Q6B014	KCNKA_HUMAN;.;.	Q	477;482;482	ENSP00000343104:R477Q;ENSP00000310568:R482Q;ENSP00000312811:R482Q	ENSP00000310568:R482Q	R	-	2	0	KCNK10	87721819	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	5.428000	0.66489	2.709000	0.92574	0.655000	0.94253	CGG		0.498	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	NM_021161		T	88652066	C	T	88652066	3	4	709	1	0	0	0	0	1	0	0	0	8061	652	23	1	190	1	KCNK10	14	88652066	Missense_Mutation	SNP	C	TCGA-KL-8340-01A-11D-2310-10	17542913	88652066	18697474	46	39591											
AQR	9716	broad.mit.edu	37	15	35219284	35219284	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr15:35219284G>A	ENST00000156471.5	-	13	1295	c.1070C>T	c.(1069-1071)gCa>gTa	p.A357V		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	357					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)		ATCTACTTCTGCCACATTTGA	0.338																																																0													53	51	52					15																	35219284		1812	4072	5884	SO:0001583	missense	9716			AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 164"	610548	"aquarius homolog (mouse)"			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.1070C>T	15.37:g.35219284G>A	ENSP00000156471:p.Ala357Val		A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Missense_Mutation	SNP	ENST00000156471.5	37	CCDS42013.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.795158	0.90453	.	.	ENSG00000021776	ENST00000156471;ENST00000543879	D	0.93811	-3.29	5.73	4.82	0.62117	.	0.000000	0.85682	D	0.000000	D	0.94381	0.8193	M	0.83692	2.655	0.51767	D	0.999936	P	0.45902	0.868	P	0.47044	0.535	D	0.93285	0.6663	10	0.31617	T	0.26	-17.0162	14.7041	0.69176	0.0695:0.0:0.9305:0.0	.	357	O60306	AQR_HUMAN	V	357	ENSP00000156471:A357V	ENSP00000156471:A357V	A	-	2	0	AQR	33006576	1.000000	0.71417	0.999000	0.59377	0.910000	0.53928	9.452000	0.97615	1.428000	0.47296	-0.136000	0.14681	GCA		0.338	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	NM_014691		A	35219284	G	A	35219284	3	1	709	1	0	0	0	0	1	0	0	0	835	1319	46	2	3479	2	AQR	15	35219284	Missense_Mutation	SNP	G	TCGA-KL-8340-01A-11D-2310-10		35219284	67312108	47	39592											
ZSCAN10	84891	broad.mit.edu	37	16	3139359	3139359	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr16:3139359delA	ENST00000252463.2	-	5	1998	c.1911delT	c.(1909-1911)tgtfs	p.C637fs	ZSCAN10_ENST00000575108.1_Frame_Shift_Del_p.C298fs|ZSCAN10_ENST00000538082.2_Frame_Shift_Del_p.C555fs|RP11-473M20.9_ENST00000571404.1_lincRNA	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	637					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						CGCACGTCTGACAGCTGTAGG	0.716																																																0													22	26	25					16																	3139359		2177	4265	6442	SO:0001589	frameshift_variant	84891			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.1911delT	16.37:g.3139359delA	ENSP00000252463:p.Cys637fs		B3KQD3|H0YFS6|Q1WWM2	Frame_Shift_Del	DEL	ENST00000252463.2	37	CCDS10493.1																																																																																				0.716	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437124.2	NM_032805		-	3139359	A	-	3139359	7	5	709	1	0	1	0	1	0	0	0	0	18232	273	10	0	270	0	ZSCAN10	16	3139359	Frame_Shift_Del	DEL	A	TCGA-KL-8340-01A-11D-2310-10		3139359	87215394	48	39593											
RAP1GAP2	23108	hgsc.bcm.edu	37	17	2901620	2901620	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr17:2901620T>C	ENST00000254695.8	+	14	1240	c.1150T>C	c.(1150-1152)Tac>Cac	p.Y384H	RAP1GAP2_ENST00000540393.2_Missense_Mutation_p.Y365H|RAP1GAP2_ENST00000542807.1_Missense_Mutation_p.Y384H|RAP1GAP2_ENST00000366401.4_Missense_Mutation_p.Y369H	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	384	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				negative regulation of neuron projection development (GO:0010977)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|nuclear membrane (GO:0031965)	Rap GTPase activator activity (GO:0046582)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						CTTACATGCCTACATCGTCGT	0.532																																																0													114	113	113					17																	2901620		2041	4190	6231	SO:0001583	missense	23108			AB028962	CCDS45573.1, CCDS45574.1	17p13.3	2009-09-14	2009-09-14	2009-09-14		ENSG00000132359			29176	protein-coding gene	gene with protein product			"GTPase activating RANGAP domain-like 4", "GTPase activating Rap/RanGAP domain-like 4"	GARNL4		15632203	Standard	NM_015085		Approved	KIAA1039	uc010ckd.3	Q684P5		ENST00000254695.8:c.1150T>C	17.37:g.2901620T>C	ENSP00000254695:p.Tyr384His		B2RTY5|Q684P4|Q6AI00|Q6ZVF0|Q9UPW2	Missense_Mutation	SNP	ENST00000254695.8	37	CCDS45573.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.175858	0.78564	.	.	ENSG00000132359	ENST00000254695;ENST00000366401;ENST00000540393;ENST00000542807	D;D;D;D	0.93763	-3.28;-3.28;-3.28;-3.28	5.66	5.66	0.87406	Rap/ran-GAP (2);	0.173492	0.52532	D	0.000068	D	0.95382	0.8501	L	0.49571	1.57	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.81914	0.991;0.995	D	0.95853	0.8876	10	0.87932	D	0	-22.4855	15.0728	0.72053	0.0:0.0:0.0:1.0	.	369;384	Q684P5-2;Q684P5	.;RPGP2_HUMAN	H	384;369;365;384	ENSP00000254695:Y384H;ENSP00000389824:Y369H;ENSP00000439688:Y365H;ENSP00000444890:Y384H	ENSP00000254695:Y384H	Y	+	1	0	RAP1GAP2	2848370	1.000000	0.71417	1.000000	0.80357	0.517000	0.34286	8.040000	0.89188	2.158000	0.67659	0.459000	0.35465	TAC		0.532	RAP1GAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438208.2			C	2901620	T	C	2901620	3	2	709	1	0	0	0	0	1	0	0	0	13044	1522	53	3	1204	3	RAP1GAP2	17	2901620	Missense_Mutation	SNP	T	TCGA-KL-8340-01A-11D-2310-10		2901620	78293590	49	39594											
PSG3	5671	broad.mit.edu	37	19	43233954	43233954	+	Missense_Mutation	SNP	A	A	T	rs1071709		TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr19:43233954A>T	ENST00000327495.5	-	4	1148	c.964T>A	c.(964-966)Tac>Aac	p.Y322N	PSG3_ENST00000595140.1_Missense_Mutation_p.Y322N	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	322	Ig-like C2-type 2.				defense response (GO:0006952)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GTGACTGGGTAACTGCGGATG	0.488																																																0													170	153	159					19																	43233954		1511	2709	4220	SO:0001583	missense	5671				CCDS12611.1	19q13.2	2013-01-29			ENSG00000221826	ENSG00000221826		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9520	protein-coding gene	gene with protein product		176392				2341148	Standard	NM_021016		Approved		uc002oue.3	Q16557	OTTHUMG00000151120	ENST00000327495.5:c.964T>A	19.37:g.43233954A>T	ENSP00000332215:p.Tyr322Asn		Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Missense_Mutation	SNP	ENST00000327495.5	37	CCDS12611.1	.	.	.	.	.	.	.	.	.	.	c	0.770	-0.765978	0.02974	.	.	ENSG00000221826	ENST00000327495	T	0.09911	2.93	1.36	-2.4	0.06583	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.03053	0.0090	N	0.02539	-0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.41645	-0.9497	9	0.26408	T	0.33	.	2.1312	0.03750	0.3034:0.4815:0.0:0.2151	.	300;322	Q08266;Q16557	.;PSG3_HUMAN	N	322	ENSP00000332215:Y322N	ENSP00000332215:Y322N	Y	-	1	0	PSG3	47925794	0.934000	0.31675	0.016000	0.15963	0.011000	0.07611	0.292000	0.19011	-0.680000	0.05211	-2.134000	0.00341	TAC		0.488	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321423.2	NM_021016		T	43233954	A	T	43233954	3	4	709	1	0	0	0	0	1	0	0	0	12661	362	13	5	334	5	PSG3	19	43233954	Missense_Mutation	SNP	A	TCGA-KL-8340-01A-11D-2310-10		43233954	15895029	50	39595											
AKT1S1	84335	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	19	50374973	50374973	+	Splice_Site	SNP	T	T	A			TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr19:50374973T>A	ENST00000391833.1	-	3	2447	c.458A>T	c.(457-459)gAt>gTt	p.D153V	AKT1S1_ENST00000344175.5_Splice_Site_p.D153V|AKT1S1_ENST00000391834.2_Splice_Site_p.D153V|AKT1S1_ENST00000391832.3_Splice_Site_p.D153V|AKT1S1_ENST00000391831.1_Splice_Site_p.D153V|AKT1S1_ENST00000391835.1_Splice_Site_p.D173V	NM_001278160.1	NP_001265089.1			AKT1 substrate 1 (proline-rich)											kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		CAGGCTGCCATCTGAAAGAGA	0.657																																																0													44	48	47					19																	50374973		2203	4299	6502	SO:0001630	splice_region_variant	84335			BC022241	CCDS12784.1, CCDS59410.1	19q13.33	2008-02-05			ENSG00000204673	ENSG00000204673			28426	protein-coding gene	gene with protein product	"proline-rich Akt substrate, 40 kDa"	610221				12524439	Standard	NM_032375		Approved	PRAS40, MGC2865, Lobe	uc031rmg.1	Q96B36	OTTHUMG00000150246	ENST00000391833.1:c.458-1A>T	19.37:g.50374973T>A				Missense_Mutation	SNP	ENST00000391833.1	37	CCDS12784.1	.	.	.	.	.	.	.	.	.	.	T	16.89	3.248560	0.59103	.	.	ENSG00000204673	ENST00000391833;ENST00000344175;ENST00000391832;ENST00000391834;ENST00000391835;ENST00000391831	T;T;T;T;T;T	0.61859	0.09;0.09;0.09;0.09;0.07;0.09	4.14	4.14	0.48551	.	0.061402	0.64402	D	0.000009	T	0.69396	0.3106	L	0.55213	1.73	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.72374	-0.4313	10	0.87932	D	0	.	11.4203	0.49978	0.0:0.0:0.0:1.0	.	153	Q96B36	AKTS1_HUMAN	V	153;153;153;153;173;153	ENSP00000375709:D153V;ENSP00000341698:D153V;ENSP00000375708:D153V;ENSP00000375710:D153V;ENSP00000375711:D173V;ENSP00000375707:D153V	ENSP00000341698:D153V	D	-	2	0	AKT1S1	55066785	0.998000	0.40836	0.992000	0.48379	0.446000	0.32137	4.804000	0.62554	1.867000	0.54127	0.533000	0.62120	GAT		0.657	AKT1S1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317073.1	NM_032375	Missense_Mutation	A	50374973	T	A	50374973	5	1	709	1	0	0	0	0	0	0	1	0	479	1449	50	5	320	5	AKT1S1	19	50374973	Splice_Site	SNP	T	TCGA-KL-8340-01A-11D-2310-10	7141019	50374973	8754010	51	39596											
PRIC285	85441	ucsc.edu	37	20	62194103	62194103	+	Silent	SNP	A	A	G	rs3810484	byFrequency	TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr20:62194103A>G	ENST00000467148.1	-	8	6141	c.6072T>C	c.(6070-6072)ccT>ccC	p.P2024P	HELZ2_ENST00000427522.2_Silent_p.P1455P	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	2024					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)										TGCTGGGCCCAGGGCGTGGGC	0.697													G|||	2740	0.547125	0.3956	0.4827	5008	,	,		13691	0.8482		0.4095	False		,,,				2504	0.6288															0								G	,	1610,2724		322,966,879	10	13	12		6072,4365	-4.9	0	20	dbSNP_107	12	3513,5019		782,1949,1535	no	coding-synonymous,coding-synonymous	PRIC285	NM_001037335.2,NM_033405.3	,	1104,2915,2414	GG,GA,AA		41.1744,37.1481,39.8181	,	2024/2650,1455/2081	62194103	5123,7743	2167	4266	6433	SO:0001819	synonymous_variant	85441			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.6072T>C	20.37:g.62194103A>G			Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	ENST00000467148.1	37	CCDS33508.1																																																																																				0.697	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		G	62194103	A	G	62194103	2	3	709	1	0	0	0	0	0	0	0	1	12490	175	7	3		3	PRIC285	20	62194103	Silent	SNP	A	TCGA-KL-8340-01A-11D-2310-10		62194103	831417	52	39597											
TIAM1	7074	broad.mit.edu	37	21	32639202	32639202	+	Silent	SNP	G	G	T	rs139712298		TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr21:32639202G>T	ENST00000286827.3	-	5	558	c.87C>A	c.(85-87)tcC>tcA	p.S29S	TIAM1_ENST00000541036.1_Silent_p.S29S|TIAM1_ENST00000469412.1_Intron	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	29					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						AGAGGCGCAGGGAGCGGGAAG	0.582																																																0													45	47	46					21																	32639202		2203	4300	6503	SO:0001819	synonymous_variant	7074				CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.87C>A	21.37:g.32639202G>T			B7ZLR6|F5GZ53|Q17RT7	Silent	SNP	ENST00000286827.3	37	CCDS13609.1																																																																																				0.582	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		T	32639202	G	T	32639202	2	4	709	1	0	0	0	0	0	0	0	1	15895	1219	43	4		4	TIAM1	21	32639202	Silent	SNP	G	TCGA-KL-8340-01A-11D-2310-10		32639202	15490693	53	39598											
SSX3	10214	broad.mit.edu;mdanderson.org;bcgsc.ca	37	X	48213477	48213477	+	Missense_Mutation	SNP	G	G	T			TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chrX:48213477G>T	ENST00000298396.2	-	4	289	c.237C>A	c.(235-237)ttC>ttA	p.F79L	SSX3_ENST00000376895.1_5'Flank|SSX3_ENST00000376893.3_Missense_Mutation_p.F79L	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	79	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)|large_intestine(1)|lung(9)	13						CATTCCCCTGGAAGTCTGTGA	0.468																																					Colon(37;227 826 19399 40970 48007)											0													138	124	129					X																	48213477		2203	4300	6503	SO:0001583	missense	10214			U90840	CCDS14291.1	Xp11.23	2009-06-17			ENSG00000165584	ENSG00000165584			11337	protein-coding gene	gene with protein product		300325				8697803, 9378559	Standard	NM_021014		Approved	CT5.3	uc004djd.1	Q99909	OTTHUMG00000021489	ENST00000298396.2:c.237C>A	X.37:g.48213477G>T	ENSP00000298396:p.Phe79Leu		O60223|Q5JQZ3|Q9BRW7	Missense_Mutation	SNP	ENST00000298396.2	37	CCDS14291.1	.	.	.	.	.	.	.	.	.	.	g	2.049	-0.418296	0.04766	.	.	ENSG00000165584	ENST00000298396;ENST00000376893	T;T	0.07216	3.26;3.21	0.96	0.0283	0.14158	Krueppel-associated box (1);Krueppel-associated box-related (1);	0.829980	0.10428	N	0.675889	T	0.05273	0.0140	L	0.35288	1.05	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.002;0.003	T	0.46610	-0.9179	10	0.16896	T	0.51	.	3.126	0.06407	0.3386:0.0:0.6614:0.0	.	79;79	Q9BRW7;Q99909	.;SSX3_HUMAN	L	79	ENSP00000298396:F79L;ENSP00000366090:F79L	ENSP00000298396:F79L	F	-	3	2	SSX3	48098421	0.000000	0.05858	0.001000	0.08648	0.050000	0.14768	0.230000	0.17852	-0.051000	0.13334	0.181000	0.17075	TTC		0.468	SSX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056486.1	NM_021014		T	48213477	G	T	48213477	3	4	709	1	0	0	0	0	1	0	0	0	15210	1165	41	4	396	4	SSX3	23	48213477	Missense_Mutation	SNP	G	TCGA-KL-8340-01A-11D-2310-10		48213477	107057083	54	39599											
ACAP3	116983	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	1	1235261	1235261	+	Missense_Mutation	SNP	C	C	G			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr1:1235261C>G	ENST00000354700.5	-	9	890	c.688G>C	c.(688-690)Gcg>Ccg	p.A230P	ACAP3_ENST00000379037.2_5'Flank|ACAP3_ENST00000353662.3_Missense_Mutation_p.A188P	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	230					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						TTTTCCACCGCAGAGTCGATC	0.687																																																0													22	24	24					1																	1235261		2178	4282	6460	SO:0001583	missense	116983			AF411981	CCDS19.2	1p36	2013-01-10	2008-09-22	2008-09-22	ENSG00000131584	ENSG00000131584		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16754	protein-coding gene	gene with protein product			"centaurin, beta 5"	CENTB5			Standard	NM_030649		Approved	KIAA1716	uc001aeb.2	Q96P50	OTTHUMG00000002235	ENST00000354700.5:c.688G>C	1.37:g.1235261C>G	ENSP00000346733:p.Ala230Pro		B1AMF5|Q5TA42|Q5TA43|Q86UT3|Q9BSR9|Q9C0E7	Missense_Mutation	SNP	ENST00000354700.5	37	CCDS19.2	.	.	.	.	.	.	.	.	.	.	C	15.23	2.771765	0.49680	.	.	ENSG00000131584	ENST00000354700;ENST00000353662	T;T	0.04502	3.61;3.61	3.38	3.38	0.38709	.	0.000000	0.85682	D	0.000000	T	0.21186	0.0510	M	0.79926	2.475	0.41380	D	0.987541	D;D;D	0.71674	0.998;0.992;0.988	D;P;P	0.74348	0.983;0.828;0.839	T	0.05241	-1.0897	10	0.40728	T	0.16	.	16.0417	0.80687	0.0:1.0:0.0:0.0	.	270;230;188	Q5TA40;Q96P50;Q96P50-1	.;ACAP3_HUMAN;.	P	230;188	ENSP00000346733:A230P;ENSP00000321139:A188P	ENSP00000321139:A188P	A	-	1	0	ACAP3	1225124	1.000000	0.71417	0.828000	0.32881	0.773000	0.43773	7.108000	0.77055	2.201000	0.70794	0.313000	0.20887	GCG		0.687	ACAP3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006366.2	NM_030649		G	1235261	C	G	1235261	3	3	710	1	0	0	0	0	1	0	0	0	120	710	25	4	1880	4	ACAP3	1	1235261	Missense_Mutation	SNP	C	TCGA-KL-8341-01A-11D-2310-10		1235261	248015360	1	39600											
TAS1R1	80835	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	6634949	6634949	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr1:6634949G>A	ENST00000333172.6	+	3	950	c.757G>A	c.(757-759)Gat>Aat	p.D253N	TAS1R1_ENST00000328191.4_Missense_Mutation_p.D253N|TAS1R1_ENST00000351136.3_Intron	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	253					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)		CCAGGTGGGCGATGAGAGGAT	0.612																																																0													73	75	74					1																	6634949		2203	4300	6503	SO:0001583	missense	80835				CCDS81.1, CCDS82.1	1p36.23	2012-08-22	2003-03-24		ENSG00000173662	ENSG00000173662		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	14448	protein-coding gene	gene with protein product		606225	"G protein-coupled receptor 70"	GPR70			Standard	NM_138697		Approved	T1R1, TR1	uc001ant.3	Q7RTX1	OTTHUMG00000001441	ENST00000333172.6:c.757G>A	1.37:g.6634949G>A	ENSP00000331867:p.Asp253Asn		B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0	Missense_Mutation	SNP	ENST00000333172.6	37	CCDS81.1	.	.	.	.	.	.	.	.	.	.	G	8.317	0.823442	0.16678	.	.	ENSG00000173662	ENST00000333172;ENST00000328191	D;D	0.83591	-1.74;-1.74	5.4	4.49	0.54785	Extracellular ligand-binding receptor (1);	1.286080	0.04829	N	0.438363	T	0.75170	0.3813	L	0.37800	1.135	0.09310	N	1	B;B	0.31879	0.171;0.344	B;B	0.27608	0.051;0.081	T	0.59974	-0.7353	10	0.18276	T	0.48	.	8.0489	0.30566	0.1913:0.0:0.8087:0.0	.	253;253	Q7RTX1-3;Q7RTX1	.;TS1R1_HUMAN	N	253	ENSP00000331867:D253N;ENSP00000327705:D253N	ENSP00000327705:D253N	D	+	1	0	TAS1R1	6557536	0.014000	0.17966	0.015000	0.15790	0.009000	0.06853	1.803000	0.38863	1.249000	0.43950	0.655000	0.94253	GAT		0.612	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004211.1			A	6634949	G	A	6634949	3	1	710	1	0	0	0	0	1	0	0	0	15567	1058	37	1	767	1	TAS1R1	1	6634949	Missense_Mutation	SNP	G	TCGA-KL-8341-01A-11D-2310-10	5399688	6634949	242615672	2	39601											
PER3	8863	broad.mit.edu	37	1	7887663	7887663	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr1:7887663T>C	ENST00000361923.2	+	17	2825	c.2650T>C	c.(2650-2652)Tcg>Ccg	p.S884P	PER3_ENST00000377532.3_Missense_Mutation_p.S892P|RP3-467L1.4_ENST00000451646.1_RNA	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	884	Pro-rich.				circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		ACCCTCAATGTCGTCAGCAAT	0.567																																																0													123	117	119					1																	7887663		2203	4300	6503	SO:0001583	missense	8863			BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"period (Drosophila) homolog 3", "period homolog 3 (Drosophila)"			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.2650T>C	1.37:g.7887663T>C	ENSP00000355031:p.Ser884Pro		Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Missense_Mutation	SNP	ENST00000361923.2	37	CCDS89.1	.	.	.	.	.	.	.	.	.	.	T	3.590	-0.083812	0.07141	.	.	ENSG00000049246	ENST00000377532;ENST00000361923;ENST00000539773	T;T	0.09630	2.96;2.96	0.109	0.109	0.14578	.	124.353000	0.03105	U	0.161708	T	0.05868	0.0153	N	0.08118	0	0.09310	N	1	B;B;B;B	0.12013	0.005;0.003;0.005;0.005	B;B;B;B	0.12156	0.006;0.003;0.007;0.006	T	0.34675	-0.9819	9	0.23891	T	0.37	.	.	.	.	.	884;892;892;884	A2I2N5;A6H8X0;P56645-2;P56645	.;.;.;PER3_HUMAN	P	892;884;95	ENSP00000366755:S892P;ENSP00000355031:S884P	ENSP00000355031:S884P	S	+	1	0	PER3	7810250	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	0.198000	0.17217	0.156000	0.19299	0.155000	0.16302	TCG		0.567	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000003607.1	NM_016831		C	7887663	T	C	7887663	3	2	710	1	0	0	0	0	1	0	0	0	11733	1667	58	3	2716	3	PER3	1	7887663	Missense_Mutation	SNP	T	TCGA-KL-8341-01A-11D-2310-10	1252714	7887663	241362958	3	39602											
RERE	473	broad.mit.edu	37	1	8424203	8424203	+	Silent	SNP	C	C	T			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr1:8424203C>T	ENST00000337907.3	-	16	2287	c.1653G>A	c.(1651-1653)ccG>ccA	p.P551P	RERE_ENST00000460659.1_5'Flank|RERE_ENST00000377464.1_Silent_p.P283P|RERE_ENST00000400908.2_Silent_p.P551P|RERE_ENST00000476556.1_5'UTR|RERE_ENST00000400907.2_Intron	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	551					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)		TAAACGGTGGCGGGTCCACGG	0.602																																																0													85	81	82					1																	8424203		2203	4300	6503	SO:0001819	synonymous_variant	473			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.1653G>A	1.37:g.8424203C>T			O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Silent	SNP	ENST00000337907.3	37	CCDS95.1																																																																																				0.602	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			T	8424203	C	T	8424203	2	4	710	1	0	0	0	0	0	0	0	1	13237	755	27	1		1	RERE	1	8424203	Silent	SNP	C	TCGA-KL-8341-01A-11D-2310-10	536540	8424203	240826418	4	39603											
TCHH	7062	bcgsc.ca	37	1	152082364	152082364	+	Missense_Mutation	SNP	C	C	T	rs372810614		TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr1:152082364C>T	ENST00000368804.1	-	2	3328	c.3329G>A	c.(3328-3330)tGt>tAt	p.C1110Y		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1110	10 X 30 AA tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)	p.C1110Y(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)			ttcctccCGACATTGCCTCTC	0.597																																																1	Substitution - Missense(1)	endometrium(1)											94	95	94					1																	152082364		1970	4147	6117	SO:0001583	missense	7062			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"EF-hand domain containing"	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.3329G>A	1.37:g.152082364C>T	ENSP00000357794:p.Cys1110Tyr		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	c	4.077	0.012201	0.07912	.	.	ENSG00000159450	ENST00000368804	T	0.04454	3.62	2.96	-4.42	0.03579	.	.	.	.	.	T	0.00328	0.0010	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43702	-0.9375	9	0.02654	T	1	.	3.7854	0.08698	0.4847:0.1083:0.0:0.407	.	1110	Q07283	TRHY_HUMAN	Y	1110	ENSP00000357794:C1110Y	ENSP00000357794:C1110Y	C	-	2	0	TCHH	150348988	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	0.189000	0.17037	-1.366000	0.02155	-0.598000	0.04106	TGT		0.597	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		T	152082364	C	T	152082364	3	4	710	1	0	0	0	0	1	0	0	0	15705	478	17	2	2506	2	TCHH	1	152082364	Missense_Mutation	SNP	C	TCGA-KL-8341-01A-11D-2310-10	143658161	152082364	97168257	5	39604											
DARC	2532	mdanderson.org	37	1	159175354	159175354	+	Missense_Mutation	SNP	G	G	A	rs12075	byFrequency	TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr1:159175354G>A	ENST00000368122.2	+	2	804	c.125G>A	c.(124-126)gGt>gAt	p.G42D	CTA-134P22.2_ENST00000609696.1_RNA|DARC_ENST00000537147.1_Missense_Mutation_p.G42D|DARC_ENST00000368121.2_Missense_Mutation_p.G44D	NM_002036.3	NP_002027.2	Q16570	ACKR1_HUMAN		42			G -> D (antigen Fy(b); dbSNP:rs12075). {ECO:0000269|PubMed:7663520, ECO:0000269|PubMed:7705836, ECO:0000269|PubMed:8248172, ECO:0000269|PubMed:9731074, ECO:0000269|PubMed:9886340}.		chemokine-mediated signaling pathway (GO:0070098)|defense response (GO:0006952)|inflammatory response (GO:0006954)|regulation of chemokine production (GO:0032642)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					GGAGACTATGGTGCCAACCTG	0.527													A|||	2707	0.540535	0.9811	0.5389	5008	,	,		20455	0.0774		0.6024	False		,,,				2504	0.3599															0			GRCh37	CM950484	DARC	M	rs12075	A	ASP/GLY,ASP/GLY	4037,369	187.8+/-214.3	1849,339,15	95	87	90	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	131,125	-1.1	0	1	dbSNP_52	90	4967,3633	523.8+/-380.4	1441,2085,774	yes	missense,missense	DARC	NM_001122951.2,NM_002036.3	94,94	3290,2424,789	AA,AG,GG	http://www.ncbi.nlm.nih.gov/pubmed?term	42.2442,8.3749,30.7704	benign,benign	44/339,42/337	159175354	9004,4002	2203	4300	6503	SO:0001583	missense	2532																														ENST00000368122.2:c.125G>A	1.37:g.159175354G>A	ENSP00000357104:p.Gly42Asp		A8YPG5|O75898|Q16300|Q8WWE3|Q9UJP0|Q9UKZ5|Q9UKZ6|Q9UQE1	Missense_Mutation	SNP	ENST00000368122.2	37	CCDS1183.1	1176	0.5384615384615384	474	0.9634146341463414	209	0.5773480662983426	47	0.08216783216783216	446	0.5883905013192612	A	0.168	-1.074849	0.01903	0.916251	0.577558	ENSG00000213088	ENST00000368122;ENST00000537147;ENST00000359381;ENST00000435307;ENST00000368121	T;T;T;T	0.22336	4.47;4.47;1.96;4.46	4.36	-1.07	0.09968	.	.	.	.	.	T	0.01287	0.0042	N	0.02916	-0.46	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42396	-0.9454	8	0.02654	T	1	-10.5139	3.1012	0.06327	0.4283:0.0:0.1875:0.3841	rs12075;rs3171130;rs61460694;rs12075	44;42	Q5Y7A1;Q16570	.;DUFFY_HUMAN	D	42;42;42;44;44	ENSP00000357104:G42D;ENSP00000441985:G42D;ENSP00000398406:G44D;ENSP00000357103:G44D	ENSP00000352341:G42D	G	+	2	0	DARC	157441978	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.283000	0.18846	-0.484000	0.06763	-0.361000	0.07541	GGT		0.527	DARC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090338.2			A	159175354	G	A	159175354	3	1	710	1	0	0	0	0	1	0	0	0	4242	1261	44	2	158	2	DARC	1	159175354	Missense_Mutation	SNP	G	TCGA-KL-8341-01A-11D-2310-10	7092990	159175354	90075267	6	39605											
NUAK2	81788	ucsc.edu;bcgsc.ca	37	1	205274455	205274455	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr1:205274455T>C	ENST00000367157.3	-	6	821	c.695A>G	c.(694-696)gAc>gGc	p.D232G		NM_030952.1	NP_112214.1			NUAK family, SNF1-like kinase, 2											breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GGACCAGCTGTCCACCTGAGA	0.552																																																0													58	51	53					1																	205274455		2203	4300	6503	SO:0001583	missense	81788			AK074830	CCDS1453.1	1q32.1	2008-02-05			ENSG00000163545	ENSG00000163545			29558	protein-coding gene	gene with protein product	"SNF1/AMP activated protein kinase"	608131				11230166	Standard	NM_030952		Approved	SNARK, FLJ90349	uc001hce.3	Q9H093	OTTHUMG00000037196	ENST00000367157.3:c.695A>G	1.37:g.205274455T>C	ENSP00000356125:p.Asp232Gly			Missense_Mutation	SNP	ENST00000367157.3	37	CCDS1453.1	.	.	.	.	.	.	.	.	.	.	T	28.8	4.951381	0.92660	.	.	ENSG00000163545	ENST00000367157	T	0.75589	-0.95	5.93	5.93	0.95920	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	0.47852	D	0.000215	D	0.92861	0.7729	H	0.99732	4.735	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95977	0.8974	10	0.87932	D	0	.	16.0444	0.80711	0.0:0.0:0.0:1.0	.	232	Q9H093	NUAK2_HUMAN	G	232	ENSP00000356125:D232G	ENSP00000356125:D232G	D	-	2	0	NUAK2	203541078	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.040000	0.89188	2.271000	0.75665	0.459000	0.35465	GAC		0.552	NUAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090390.1	NM_030952		C	205274455	T	C	205274455	3	2	710	1	0	0	0	0	1	0	0	0	10715	1667	58	3	1199	3	NUAK2	1	205274455	Missense_Mutation	SNP	T	TCGA-KL-8341-01A-11D-2310-10	46099101	205274455	43976166	7	39606											
C1orf35	79169	broad.mit.edu	37	1	228289842	228289843	+	Frame_Shift_Ins	INS	-	-	C	rs1128456	byFrequency	TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr1:228289842_228289843insC	ENST00000272139.4	-	6	705_706	c.471_472insG	c.(469-474)gggcccfs	p.P158fs	C1orf35_ENST00000472617.1_5'UTR	NM_024319.2	NP_077295.1	Q9BU76	MMTA2_HUMAN	chromosome 1 open reading frame 35	158							poly(A) RNA binding (GO:0044822)			large_intestine(1)|lung(1)|skin(1)	3		Prostate(94;0.0488)				GAGGTCCCGGGCCCGCCGCTCT	0.743																																																0																																										SO:0001589	frameshift_variant	79169			AY137773	CCDS1566.1	1q42.13	2012-06-25			ENSG00000143793	ENSG00000143793			19032	protein-coding gene	gene with protein product	"multiple myeloma tumor-associated protein 2"					12545221	Standard	NM_024319		Approved	MGC4174, MMTAG2	uc001hrx.3	Q9BU76	OTTHUMG00000037793	ENST00000272139.4:c.472dupG	1.37:g.228289845_228289845dupC	ENSP00000272139:p.Pro158fs		Q6P5Y0|Q6ZTZ6|Q6ZWA6|Q8IZH3	Frame_Shift_Ins	INS	ENST00000272139.4	37	CCDS1566.1																																																																																				0.743	C1orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092245.1	NM_024319		C	228289843	-	C	228289842	7	5	710	1	0	1	1	0	0	0	0	0	2040	1203	42	0	331	0	C1orf35	1	228289842	Frame_Shift_Ins	INS	-	TCGA-KL-8341-01A-11D-2310-10	23015387	228289842	20960779	8	39607											
GALNT2	2590	broad.mit.edu;mdanderson.org	37	1	230372423	230372423	+	Silent	SNP	T	T	C			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr1:230372423T>C	ENST00000366672.4	+	6	631	c.559T>C	c.(559-561)Ttg>Ctg	p.L187L	GALNT2_ENST00000543760.1_Silent_p.L149L|GALNT2_ENST00000541865.1_Silent_p.L97L	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	187	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|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 vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				CGGGGCTCTCTTGGGGAAAAT	0.413																																																0													97	99	98					1																	230372423		2203	4300	6503	SO:0001819	synonymous_variant	2590			BC041120	CCDS1582.1	1q41-q42	2014-03-13	2014-03-13		ENSG00000143641	ENSG00000143641	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4124	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 2"	602274	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)"			9592121, 7592619	Standard	NM_004481		Approved	GalNAc-T2	uc010pwa.1	Q10471	OTTHUMG00000037771	ENST00000366672.4:c.559T>C	1.37:g.230372423T>C			A8K1Y3|B7Z8V8|C5HU00|Q9NPY4	Silent	SNP	ENST00000366672.4	37	CCDS1582.1																																																																																				0.413	GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092158.1	NM_004481		C	230372423	T	C	230372423	2	2	710	1	0	0	0	0	0	0	0	1	6215	1606	56	3		3	GALNT2	1	230372423	Silent	SNP	T	TCGA-KL-8341-01A-11D-2310-10	2082581	230372423	18878198	9	39608											
OR2T4	127074	broad.mit.edu	37	1	248524966	248524967	+	Frame_Shift_Ins	INS	-	-	G	rs561405021|rs200915140	byFrequency	TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr1:248524966_248524967insG	ENST00000366475.1	+	1	84_85	c.84_85insG	c.(85-87)atgfs	p.M29fs		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	29						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)			CCAAACATCCAATGGCCAATAT	0.5																																																0																																										SO:0001589	frameshift_variant	127074			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	Exception_encountered	1.37:g.248524966_248524967insG	ENSP00000355431:p.Met29fs		Q6IEZ8	Frame_Shift_Ins	INS	ENST00000366475.1	37	CCDS31113.1																																																																																				0.5	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		G	248524967	-	G	248524966	7	5	710	1	0	1	1	0	0	0	0	0	11029	117	5	0	86	0	OR2T4	1	248524966	Frame_Shift_Ins	INS	-	TCGA-KL-8341-01A-11D-2310-10	18152543	248524966	725655	10	39609	326	2									
OR2T4	127074	bcgsc.ca	37	1	248524967	248524967	+	Missense_Mutation	SNP	A	A	C	rs200915140	byFrequency	TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr1:248524967A>C	ENST00000366475.1	+	1	85	c.85A>C	c.(85-87)Atg>Ctg	p.M29L		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	29						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)			CAAACATCCAATGGCCAATAT	0.498																																																0													108	92	98					1																	248524967		2200	4243	6443	SO:0001583	missense	127074			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.85A>C	1.37:g.248524967A>C	ENSP00000355431:p.Met29Leu		Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	A	7.539	0.660235	0.14645	.	.	ENSG00000196944	ENST00000366475	T	0.01505	4.82	1.03	1.03	0.20045	.	0.000000	0.50627	D	0.000118	T	0.01287	0.0042	L	0.27053	0.805	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.47142	-0.9140	10	0.59425	D	0.04	.	1.7485	0.02967	0.4978:0.0:0.2193:0.2829	.	29	Q8NH00	OR2T4_HUMAN	L	29	ENSP00000355431:M29L	ENSP00000355431:M29L	M	+	1	0	OR2T4	246591590	0.804000	0.28969	0.451000	0.26982	0.234000	0.25298	0.925000	0.28791	0.382000	0.24878	0.076000	0.15429	ATG		0.498	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		C	248524967	A	C	248524967	3	2	710	1	0	0	0	0	1	0	0	0	11029	101	4	5	87	5	OR2T4	1	248524967	Missense_Mutation	SNP	A	TCGA-KL-8341-01A-11D-2310-10	1	248524967	725654	11	39610	326	2									
RANBP2	5903	broad.mit.edu	37	2	109383357	109383357	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr2:109383357A>G	ENST00000283195.6	+	20	6488	c.6362A>G	c.(6361-6363)cAg>cGg	p.Q2121R		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2121	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)	p.Q2121R(6)	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						AAACTAGAGCAGTTGGCAGCA	0.453																																																6	Substitution - Missense(6)	skin(6)											117	126	123					2																	109383357		2184	4241	6425	SO:0001583	missense	5903			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.6362A>G	2.37:g.109383357A>G	ENSP00000283195:p.Gln2121Arg		Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	A	14.65	2.598113	0.46318	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.46451	0.87	5.6	5.6	0.85130	Pleckstrin homology-type (1);Ran binding protein 1 (3);	.	.	.	.	T	0.58736	0.2143	L	0.51422	1.61	0.44098	D	0.996863	D	0.76494	0.999	D	0.83275	0.996	T	0.55611	-0.8114	9	0.35671	T	0.21	-3.8912	15.7943	0.78398	1.0:0.0:0.0:0.0	.	2121	P49792	RBP2_HUMAN	R	1145;2121	ENSP00000283195:Q2121R	ENSP00000283195:Q2121R	Q	+	2	0	RANBP2	108749789	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	9.339000	0.96797	2.119000	0.64992	0.455000	0.32223	CAG		0.453	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		G	109383357	A	G	109383357	3	3	710	1	0	0	0	0	1	0	0	0	13034	188	7	3	6440	3	RANBP2	2	109383357	Missense_Mutation	SNP	A	TCGA-KL-8341-01A-11D-2310-10		109383357	133816016	12	39611											
POTEE	445582	mdanderson.org	37	2	132021815	132021815	+	Silent	SNP	G	G	A	rs369764537	byFrequency	TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr2:132021815G>A	ENST00000356920.5	+	15	2881	c.2787G>A	c.(2785-2787)acG>acA	p.T929T	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	929	Actin-like.				retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											AGATGGCCACGGCGGCCTCCA	0.617													.|||	283	0.0565096	0.0893	0.0447	5008	,	,		43636	0.0069		0.0795	False		,,,				2504	0.0481															0													141	156	151					2																	132021815		2201	4297	6498	SO:0001819	synonymous_variant	445582			AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33895	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 2"	608914	"ANKRD26-like family C, member 1A"	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.2787G>A	2.37:g.132021815G>A			Q6S8J4|Q6S8J5|Q6S8J8	Silent	SNP	ENST00000356920.5	37	CCDS46414.1																																																																																				0.617	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		A	132021815	G	A	132021815	2	1	710	1	0	0	0	0	0	0	0	1	12266	1103	39	1		1	POTEE	2	132021815	Silent	SNP	G	TCGA-KL-8341-01A-11D-2310-10	22638458	132021815	111177558	13	39612											
ZDBF2	57683	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	207171302	207171302	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr2:207171302G>A	ENST00000374423.3	+	5	2436	c.2050G>A	c.(2050-2052)Gaa>Aaa	p.E684K		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	684							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						TCAAGTAGCCGAAATAGAGCG	0.443																																																0													71	71	71					2																	207171302		1896	4124	6020	SO:0001583	missense	57683			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"Zinc fingers, DBF-type"	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.2050G>A	2.37:g.207171302G>A	ENSP00000363545:p.Glu684Lys		Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	9.409	1.079934	0.20309	.	.	ENSG00000204186	ENST00000374423	T	0.58652	0.32	3.75	1.97	0.26223	.	0.000000	0.39083	N	0.001470	T	0.31420	0.0796	L	0.31526	0.94	0.09310	N	1	P	0.38223	0.623	B	0.25405	0.06	T	0.15492	-1.0435	10	0.13853	T	0.58	.	6.1828	0.20480	0.2301:0.0:0.7699:0.0	.	684	Q9HCK1	ZDBF2_HUMAN	K	684	ENSP00000363545:E684K	ENSP00000363545:E684K	E	+	1	0	ZDBF2	206879547	0.616000	0.27035	0.003000	0.11579	0.001000	0.01503	1.340000	0.33896	0.585000	0.29608	-0.119000	0.15052	GAA		0.443	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		A	207171302	G	A	207171302	3	1	710	1	0	0	0	0	1	0	0	0	17604	1059	37	1	2060	1	ZDBF2	2	207171302	Missense_Mutation	SNP	G	TCGA-KL-8341-01A-11D-2310-10	75149487	207171302	36028071	14	39613											
SMARCAL1	50485	broad.mit.edu	37	2	217340073	217340073	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr2:217340073A>G	ENST00000357276.4	+	15	2656	c.2326A>G	c.(2326-2328)Agg>Ggg	p.R776G	SMARCAL1_ENST00000358207.5_Missense_Mutation_p.R776G	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	776	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		ACTGTCGGAGAGGCATGCTGT	0.607									Schimke Immuno-Osseous Dysplasia																																							0													129	110	117					2																	217340073		2203	4300	6503	SO:0001583	missense	50485	Familial Cancer Database	SIOD	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"HepA-related protein", "ATP-driven annealing helicase"	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.2326A>G	2.37:g.217340073A>G	ENSP00000349823:p.Arg776Gly		A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Missense_Mutation	SNP	ENST00000357276.4	37	CCDS2403.1	.	.	.	.	.	.	.	.	.	.	A	3.685	-0.064660	0.07273	.	.	ENSG00000138375	ENST00000357276;ENST00000358207;ENST00000392128	D;D;T	0.91894	-2.93;-2.93;-0.91	5.06	1.2	0.21068	Helicase, C-terminal (3);	0.413963	0.27544	N	0.018889	T	0.76076	0.3937	N	0.04148	-0.265	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.61922	-0.6963	10	0.14252	T	0.57	-4.4374	4.8558	0.13559	0.6577:0.1566:0.1857:0.0	.	776	Q9NZC9	SMAL1_HUMAN	G	776;776;618	ENSP00000349823:R776G;ENSP00000350940:R776G;ENSP00000375974:R618G	ENSP00000349823:R776G	R	+	1	2	SMARCAL1	217048318	0.156000	0.22821	0.127000	0.21898	0.067000	0.16453	0.614000	0.24314	0.047000	0.15862	0.528000	0.53228	AGG		0.607	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256671.2			G	217340073	A	G	217340073	3	3	710	1	0	0	0	0	1	0	0	0	14779	295	11	3	2376	3	SMARCAL1	2	217340073	Missense_Mutation	SNP	A	TCGA-KL-8341-01A-11D-2310-10	10168771	217340073	25859300	15	39614											
GLB1L	79411	broad.mit.edu;mdanderson.org	37	2	220102299	220102299	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr2:220102299A>G	ENST00000295759.7	-	16	1937	c.1624T>C	c.(1624-1626)Tcc>Ccc	p.S542P	GLB1L_ENST00000392089.2_Missense_Mutation_p.S542P|GLB1L_ENST00000497855.1_5'UTR|GLB1L_ENST00000356283.3_Missense_Mutation_p.S452P|GLB1L_ENST00000409640.1_Missense_Mutation_p.S452P			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	542					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)		AATGTTTTGGAGTAGAATGTG	0.468																																																0													80	82	81					2																	220102299		2203	4300	6503	SO:0001583	missense	79411				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.1624T>C	2.37:g.220102299A>G	ENSP00000295759:p.Ser542Pro		Q96DR0	Missense_Mutation	SNP	ENST00000295759.7	37	CCDS2437.1	.	.	.	.	.	.	.	.	.	.	A	9.019	0.984337	0.18889	.	.	ENSG00000163521	ENST00000295759;ENST00000409640;ENST00000392089;ENST00000356283	D;D;D;D	0.94232	-3.38;-3.38;-3.38;-3.38	5.09	5.09	0.68999	Galactose-binding domain-like (1);	0.447334	0.23904	N	0.043415	D	0.94026	0.8086	L	0.54323	1.7	0.42832	D	0.994029	D;D	0.71674	0.998;0.965	P;P	0.62649	0.905;0.579	D	0.92708	0.6180	10	0.37606	T	0.19	-17.0788	8.4212	0.32700	0.7088:0.0:0.0:0.2912	.	452;542	Q6UWU2-2;Q6UWU2	.;GLB1L_HUMAN	P	542;452;542;452	ENSP00000295759:S542P;ENSP00000386354:S452P;ENSP00000375939:S542P;ENSP00000348628:S452P	ENSP00000295759:S542P	S	-	1	0	GLB1L	219810543	1.000000	0.71417	0.996000	0.52242	0.745000	0.42441	2.209000	0.42806	2.129000	0.65627	0.533000	0.62120	TCC		0.468	GLB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256822.2	NM_024506		G	220102299	A	G	220102299	3	3	710	1	0	0	0	0	1	0	0	0	6430	304	11	3	348	3	GLB1L	2	220102299	Missense_Mutation	SNP	A	TCGA-KL-8341-01A-11D-2310-10	2762226	220102299	23097074	16	39615											
ZCWPW2	152098	mdanderson.org;bcgsc.ca	37	3	28533617	28533617	+	Splice_Site	SNP	G	G	A			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr3:28533617G>A	ENST00000383768.2	+	6	798		c.e6-1		ZCWPW2_ENST00000421010.1_Splice_Site			Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2								zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						TTGTCTTACAGATAAATCCGA	0.294																																																0													54	53	53					3																	28533617		2203	4300	6503	SO:0001630	splice_region_variant	152098			BC065764	CCDS33723.1	3p23	2005-08-22			ENSG00000206559	ENSG00000206559			23574	protein-coding gene	gene with protein product						14607086	Standard	XM_005264892		Approved	ZCW2	uc003cei.3	Q504Y3	OTTHUMG00000155705	ENST00000383768.2:c.611-1G>A	3.37:g.28533617G>A				Splice_Site	SNP	ENST00000383768.2	37	CCDS33723.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.140642	0.37825	.	.	ENSG00000206559	ENST00000383768;ENST00000421010;ENST00000419130	.	.	.	4.96	4.96	0.65561	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0497	0.64727	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZCWPW2	28508621	1.000000	0.71417	1.000000	0.80357	0.369000	0.29798	4.393000	0.59665	2.444000	0.82710	0.650000	0.86243	.		0.294	ZCWPW2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341318.1	XM_087384	Intron	A	28533617	G	A	28533617	5	1	710	1	0	0	0	0	0	0	1	0	17603	956	33	2	624	2	ZCWPW2	3	28533617	Splice_Site	SNP	G	TCGA-KL-8341-01A-11D-2310-10		28533617	169488813	17	39616											
ZCWPW2	152098	mdanderson.org	37	3	28533652	28533652	+	Silent	SNP	G	G	A			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr3:28533652G>A	ENST00000383768.2	+	6	833	c.645G>A	c.(643-645)ctG>ctA	p.L215L	ZCWPW2_ENST00000421010.1_Silent_p.L215L			Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	215							zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						TTGCTGCACTGGTCAAGAAAA	0.274																																																0													50	48	49					3																	28533652		2203	4300	6503	SO:0001819	synonymous_variant	152098			BC065764	CCDS33723.1	3p23	2005-08-22			ENSG00000206559	ENSG00000206559			23574	protein-coding gene	gene with protein product						14607086	Standard	XM_005264892		Approved	ZCW2	uc003cei.3	Q504Y3	OTTHUMG00000155705	ENST00000383768.2:c.645G>A	3.37:g.28533652G>A				Silent	SNP	ENST00000383768.2	37	CCDS33723.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.746957	0.00669	.	.	ENSG00000206559	ENST00000419130	.	.	.	4.72	-1.03	0.10102	.	.	.	.	.	T	0.21427	0.0516	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.26258	-1.0108	4	.	.	.	-0.0659	3.4655	0.07548	0.4763:0.0:0.3375:0.1862	.	.	.	.	S	100	.	.	G	+	1	0	ZCWPW2	28508656	0.200000	0.23398	0.055000	0.19348	0.007000	0.05969	0.266000	0.18534	-0.063000	0.13065	-0.175000	0.13238	GGT		0.274	ZCWPW2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341318.1	XM_087384		A	28533652	G	A	28533652	2	1	710	1	0	0	0	0	0	0	0	1	17603	1335	47	2		2	ZCWPW2	3	28533652	Silent	SNP	G	TCGA-KL-8341-01A-11D-2310-10	35	28533652	169488778	18	39617											
GADL1	339896	broad.mit.edu;mdanderson.org	37	3	30875422	30875422	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr3:30875422C>T	ENST00000282538.5	-	11	1123	c.973G>A	c.(973-975)Gac>Aac	p.D325N	GADL1_ENST00000454381.3_Missense_Mutation_p.D325N	NM_207359.2	NP_997242.2	Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	325					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						GCCACAGAGTCAGCCCTATTG	0.443																																																0													71	71	71					3																	30875422		2203	4300	6503	SO:0001583	missense	339896			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.973G>A	3.37:g.30875422C>T	ENSP00000282538:p.Asp325Asn			Missense_Mutation	SNP	ENST00000282538.5	37	CCDS2649.2	.	.	.	.	.	.	.	.	.	.	C	9.606	1.130022	0.21041	.	.	ENSG00000144644	ENST00000282538;ENST00000454381	T;T	0.59364	0.27;0.27	5.87	4.09	0.47781	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.158366	0.52532	N	0.000077	T	0.49406	0.1555	L	0.52011	1.625	0.37537	D	0.918172	B	0.13594	0.008	B	0.22753	0.041	T	0.50171	-0.8859	10	0.26408	T	0.33	.	10.3869	0.44145	0.0:0.7953:0.0:0.2047	.	325	Q6ZQY3	GADL1_HUMAN	N	325	ENSP00000282538:D325N;ENSP00000427059:D325N	ENSP00000282538:D325N	D	-	1	0	GADL1	30850426	0.745000	0.28261	0.989000	0.46669	0.920000	0.55202	0.951000	0.29135	1.498000	0.48600	-0.140000	0.14226	GAC		0.443	GADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253106.2	NM_207359		T	30875422	C	T	30875422	3	4	710	1	0	0	0	0	1	0	0	0	6187	826	29	2	612	2	GADL1	3	30875422	Missense_Mutation	SNP	C	TCGA-KL-8341-01A-11D-2310-10	2341770	30875422	167147008	19	39618											
ERC2	26059	broad.mit.edu;hgsc.bcm.edu	37	3	55984500	55984502	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	CTT	CTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr3:55984500_55984502delCTT	ENST00000288221.6	-	13	2609_2611	c.2354_2356delAAG	c.(2353-2358)gaagtg>gtg	p.E785del		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	785						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CGCCTGCGCACTTCTTCTAGTAA	0.433																																																0																																										SO:0001651	inframe_deletion	26059			AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.2354_2356delAAG	3.37:g.55984503_55984505delCTT	ENSP00000288221:p.Glu785del		Q2T9F6|Q86TK4	In_Frame_Del	DEL	ENST00000288221.6	37	CCDS46851.1																																																																																				0.433	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576		-	55984502	CTT	-	55984500	7	5	710	1	0	1	0	1	0	0	0	0	5213	565	20	0	537	0	ERC2	3	55984500	In_Frame_Del	DEL	CTT	TCGA-KL-8341-01A-11D-2310-10	25109078	55984500	142037930	20	39619	327	2									
ERC2	26059	bcgsc.ca	37	3	55984501	55984503	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	CTT	CTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr3:55984501_55984503delCTT	ENST00000288221.6	-	13	2608_2610	c.2353_2355delAAG	c.(2353-2355)aagdel	p.K785del		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	785						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GCCTGCGCACTTCTTCTAGTAAC	0.433																																																0																																										SO:0001651	inframe_deletion	26059			AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.2353_2355delAAG	3.37:g.55984501_55984503delCTT	ENSP00000288221:p.Lys785del		Q2T9F6|Q86TK4	In_Frame_Del	DEL	ENST00000288221.6	37	CCDS46851.1																																																																																				0.433	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576		-	55984503	CTT	-	55984501	7	5	710	1	0	1	0	1	0	0	0	0	5213	1606	56	0	538	0	ERC2	3	55984501	In_Frame_Del	DEL	CTT	TCGA-KL-8341-01A-11D-2310-10	1	55984501	142037929	21	39620	327	2									
FAM116A	201627	ucsc.edu;bcgsc.ca	37	3	57631404	57631404	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr3:57631404T>C	ENST00000311128.5	-	11	1091	c.1021A>G	c.(1021-1023)Acc>Gcc	p.T341A	RP11-755B10.2_ENST00000470427.1_RNA	NM_152678.2	NP_689891.1	Q8IWF6	DEN6A_HUMAN	DENN/MADD domain containing 6A	341					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)										TGGGTACGGGTAGTATATTCT	0.328																																																0													98	100	99					3																	57631404		2203	4299	6502	SO:0001583	missense	201627			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.1021A>G	3.37:g.57631404T>C	ENSP00000311401:p.Thr341Ala		Q7Z5T4|Q8N235|Q8TEG8	Missense_Mutation	SNP	ENST00000311128.5	37	CCDS33773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.92|16.92	3.256206|3.256206	0.59321|0.59321	.|.	.|.	ENSG00000174839|ENSG00000174839	ENST00000311128|ENST00000477344	.|.	.|.	.|.	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69851|0.69851	0.3157|0.3157	L|L	0.53671|0.53671	1.685|1.685	0.80722|0.80722	D|D	1|1	D|.	0.54397|.	0.966|.	P|.	0.60117|.	0.869|.	T|T	0.67277|0.67277	-0.5711|-0.5711	9|5	0.25751|.	T|.	0.34|.	-28.4431|-28.4431	16.286|16.286	0.82722|0.82722	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	341|.	Q8IWF6|.	F116A_HUMAN|.	A|C	341|109	.|.	ENSP00000311401:T341A|.	T|Y	-|-	1|2	0|0	FAM116A|FAM116A	57606444|57606444	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.050000|7.050000	0.76620|0.76620	2.323000|2.323000	0.78572|0.78572	0.528000|0.528000	0.53228|0.53228	ACC|TAC		0.328	DENND6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351594.1	NM_152678		C	57631404	T	C	57631404	3	2	710	1	0	0	0	0	1	0	0	0	5409	1638	57	3	845	3	FAM116A	3	57631404	Missense_Mutation	SNP	T	TCGA-KL-8341-01A-11D-2310-10	1646903	57631404	140391026	22	39621											
OR5H6	79295	mdanderson.org	37	3	97983602	97983602	+	Silent	SNP	T	T	C	rs75354046	byFrequency	TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr3:97983602T>C	ENST00000383696.2	+	1	515	c.474T>C	c.(472-474)atT>atC	p.I158I	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	158						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						AACTATGCATTCAGCTATTAG	0.358																																																0													109	102	104					3																	97983602		2203	4299	6502	SO:0001819	synonymous_variant	79295			BK004374	CCDS33800.1	3q12.1	2013-10-10	2013-10-10		ENSG00000230301	ENSG00000230301		"GPCR / Class A : Olfactory receptors"	14767	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily H, member 6"				Standard	NM_001005479		Approved		uc003dsi.1	Q8NGV6	OTTHUMG00000160078	ENST00000383696.2:c.474T>C	3.37:g.97983602T>C			Q6IF88	Silent	SNP	ENST00000383696.2	37	CCDS33800.1																																																																																				0.358	OR5H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359111.2			C	97983602	T	C	97983602	2	2	710	1	0	0	0	0	0	0	0	1	11165	1771	62	3		3	OR5H6	3	97983602	Silent	SNP	T	TCGA-KL-8341-01A-11D-2310-10	40352198	97983602	100038828	23	39622											
HEG1	57493	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	3	124692706	124692706	+	Missense_Mutation	SNP	C	C	G			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr3:124692706C>G	ENST00000311127.4	-	16	3932	c.3865G>C	c.(3865-3867)Gat>Cat	p.D1289H		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	1289					cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.D1289Y(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						ATTTGGAAATCTCCACTTTTG	0.373																																																1	Substitution - Missense(1)	lung(1)											132	129	130					3																	124692706		1826	4087	5913	SO:0001583	missense	57493			AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"heart of glass"	614182	"HEG homolog 1 (zebrafish)"			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.3865G>C	3.37:g.124692706C>G	ENSP00000311502:p.Asp1289His		Q6NX66|Q8NC40|Q9BSV0	Missense_Mutation	SNP	ENST00000311127.4	37	CCDS46898.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.491807	0.84962	.	.	ENSG00000173706	ENST00000311127;ENST00000487661	D;T	0.93247	-3.19;0.37	4.97	4.97	0.65823	.	0.000000	0.39834	U	0.001241	D	0.93956	0.8065	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95217	0.8330	10	0.87932	D	0	.	18.4352	0.90643	0.0:1.0:0.0:0.0	.	1289	Q9ULI3	HEG1_HUMAN	H	1289;173	ENSP00000311502:D1289H;ENSP00000417648:D173H	ENSP00000311502:D1289H	D	-	1	0	HEG1	126175396	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.273000	0.78527	2.577000	0.86979	0.655000	0.94253	GAT		0.373	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	XM_087386		G	124692706	C	G	124692706	3	3	710	1	0	0	0	0	1	0	0	0	7046	913	32	4	288	4	HEG1	3	124692706	Missense_Mutation	SNP	C	TCGA-KL-8341-01A-11D-2310-10	26709104	124692706	73329724	24	39623											
PIK3CB	5291	broad.mit.edu	37	3	138433374	138433374	+	Missense_Mutation	SNP	G	G	T			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr3:138433374G>T	ENST00000477593.1	-	8	1311	c.1238C>A	c.(1237-1239)aCg>aAg	p.T413K	PIK3CB_ENST00000289153.2_Missense_Mutation_p.T413K|PIK3CB_ENST00000544716.1_5'Flank			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	413	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	TGATTTCTTCGTTTTTACTTT	0.318																																																0													157	147	150					3																	138433374		2203	4300	6503	SO:0001583	missense	5291				CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"phosphoinositide-3-kinase, catalytic, beta polypeptide"	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.1238C>A	3.37:g.138433374G>T	ENSP00000418143:p.Thr413Lys		D3DNF0|Q24JU2	Missense_Mutation	SNP	ENST00000477593.1	37	CCDS3104.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.672458	0.29693	.	.	ENSG00000051382	ENST00000477593;ENST00000289153	T;T	0.69040	-0.37;-0.37	5.46	4.59	0.56863	C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (2);	0.229090	0.43416	D	0.000566	T	0.28499	0.0705	N	0.00642	-1.3	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.10450	0.005;0.002	T	0.30995	-0.9959	10	0.06099	T	0.92	-12.2416	8.7016	0.34329	0.0764:0.0:0.7742:0.1494	.	413;17	P42338;B4DZI3	PK3CB_HUMAN;.	K	413	ENSP00000418143:T413K;ENSP00000289153:T413K	ENSP00000289153:T413K	T	-	2	0	PIK3CB	139916064	1.000000	0.71417	0.992000	0.48379	0.996000	0.88848	5.529000	0.67135	1.437000	0.47472	0.650000	0.86243	ACG		0.318	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358019.1			T	138433374	G	T	138433374	3	4	710	1	0	0	0	0	1	0	0	0	11916	1145	40	4	2036	4	PIK3CB	3	138433374	Missense_Mutation	SNP	G	TCGA-KL-8341-01A-11D-2310-10	13740668	138433374	59589056	25	39624											
CPA3	1359	broad.mit.edu;mdanderson.org	37	3	148583133	148583133	+	Silent	SNP	T	T	C			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr3:148583133T>C	ENST00000296046.3	+	1	91	c.39T>C	c.(37-39)acT>acC	p.T13T	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	13					angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TTGCTACCACTCTTGCAATTG	0.458																																																0													239	201	214					3																	148583133		2203	4300	6503	SO:0001819	synonymous_variant	1359				CCDS3138.1	3q24	2012-02-10			ENSG00000163751	ENSG00000163751	3.4.17.1		2298	protein-coding gene	gene with protein product	"mast cell carboxypeptidase A", "tissue carboxypeptidase A"	114851					Standard	NM_001870		Approved		uc003ewm.3	P15088	OTTHUMG00000159526	ENST00000296046.3:c.39T>C	3.37:g.148583133T>C			Q96E94	Silent	SNP	ENST00000296046.3	37	CCDS3138.1																																																																																				0.458	CPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355974.1	NM_001870		C	148583133	T	C	148583133	2	2	710	1	0	0	0	0	0	0	0	1	3793	1538	54	3		3	CPA3	3	148583133	Silent	SNP	T	TCGA-KL-8341-01A-11D-2310-10	10149759	148583133	49439297	26	39625											
GAK	2580	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	4	843563	843563	+	Splice_Site	SNP	C	C	T			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr4:843563C>T	ENST00000314167.4	-	28	3945		c.e28-1		GAK_ENST00000509566.1_Splice_Site|GAK_ENST00000511163.1_Splice_Site	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase						cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GCCCCGCAGCCTATGGGTGAC	0.677																																																0													37	36	36					4																	843563		2202	4300	6502	SO:0001630	splice_region_variant	2580			D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"Heat shock proteins / DNAJ (HSP40)"	4113	protein-coding gene	gene with protein product	"auxilin-2"	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.3835-1G>A	4.37:g.843563C>T			Q5U4P5|Q9BVY6	Splice_Site	SNP	ENST00000314167.4	37	CCDS3340.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.864791	0.32977	.	.	ENSG00000178950	ENST00000398567;ENST00000314167;ENST00000511163;ENST00000511980	.	.	.	4.76	4.76	0.60689	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2715	0.73705	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GAK	833563	1.000000	0.71417	0.985000	0.45067	0.013000	0.08279	7.295000	0.78780	2.167000	0.68274	0.643000	0.83706	.		0.677	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255	Intron	T	843563	C	T	843563	5	4	710	1	0	0	0	0	0	0	1	0	6197	695	24	2	105	2	GAK	4	843563	Splice_Site	SNP	C	TCGA-KL-8341-01A-11D-2310-10		843563	190310713	27	39626											
ENAM	10117	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	4	71509879	71509879	+	Silent	SNP	C	C	T	rs143333113		TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr4:71509879C>T	ENST00000396073.3	+	9	3017	c.2736C>T	c.(2734-2736)gaC>gaT	p.D912D	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	912					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)		p.D912D(2)		haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			TGTATACAGACGGTAGTCATA	0.493													C|||	1	0.000199681	0.0	0.0	5008	,	,		20689	0.001		0.0	False		,,,				2504	0.0															2	Substitution - coding silent(2)	large_intestine(1)|central_nervous_system(1)						C		0,4406		0,0,2203	98	86	90		2736	3.2	0.7	4	dbSNP_134	90	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ENAM	NM_031889.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		912/1143	71509879	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10117			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.2736C>T	4.37:g.71509879C>T			Q17RI5|Q9H3D1	Silent	SNP	ENST00000396073.3	37	CCDS3544.2																																																																																				0.493	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889		T	71509879	C	T	71509879	2	4	710	1	0	0	0	0	0	0	0	1	5114	535	19	1		1	ENAM	4	71509879	Silent	SNP	C	TCGA-KL-8341-01A-11D-2310-10	70666316	71509879	119644397	28	39627											
NDST4	64579	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	4	115998171	115998171	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr4:115998171G>A	ENST00000264363.2	-	2	700	c.22C>T	c.(22-24)Cgg>Tgg	p.R8W		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	8					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)	p.R8W(1)		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)		AAACTTCTCCGAAGTTTCACA	0.348																																																1	Substitution - Missense(1)	cervix(1)											21	22	22					4																	115998171		2202	4299	6501	SO:0001583	missense	64579			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.22C>T	4.37:g.115998171G>A	ENSP00000264363:p.Arg8Trp		Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.692943	0.68271	.	.	ENSG00000138653	ENST00000264363	T	0.38722	1.12	5.12	5.12	0.69794	.	0.263218	0.37669	N	0.001986	T	0.42471	0.1204	L	0.40543	1.245	0.80722	D	1	D	0.61697	0.99	P	0.48677	0.586	T	0.34625	-0.9821	10	0.52906	T	0.07	.	13.5255	0.61593	0.0:0.0:0.8439:0.1561	.	8	Q9H3R1	NDST4_HUMAN	W	8	ENSP00000264363:R8W	ENSP00000264363:R8W	R	-	1	2	NDST4	116217620	1.000000	0.71417	0.988000	0.46212	0.958000	0.62258	6.609000	0.74173	2.377000	0.81083	0.411000	0.27672	CGG		0.348	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		A	115998171	G	A	115998171	3	1	710	1	0	0	0	0	1	0	0	0	10260	1057	37	1	2648	1	NDST4	4	115998171	Missense_Mutation	SNP	G	TCGA-KL-8341-01A-11D-2310-10	44488292	115998171	75156105	29	39628											
MAML3	55534	broad.mit.edu	37	4	140811108	140811109	+	In_Frame_Ins	INS	-	-	TGT			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr4:140811108_140811109insTGT	ENST00000509479.2	-	2	2337_2338	c.1481_1482insACA	c.(1480-1482)cag>caACAg	p.494_494Q>QQ	MAML3_ENST00000398940.1_In_Frame_Ins_p.33_33Q>QQ|MAML3_ENST00000327122.5_In_Frame_Ins_p.338_338Q>QQ	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)					gctgctgctgctgctgctgctg	0.54																																																0																																										SO:0001652	inframe_insertion	55534			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.1481_1482insACA	4.37:g.140811108_140811109insTGT	ENSP00000421180:p.Gln510dup			In_Frame_Ins	INS	ENST00000509479.2	37	CCDS54805.1																																																																																				0.54	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			TGT	140811109	-	TGT	140811108	7	5	710	1	0	1	1	0	0	0	0	0	9209	796	28	0	1942	0	MAML3	4	140811108	In_Frame_Ins	INS	-	TCGA-KL-8341-01A-11D-2310-10	24812937	140811108	50343168	30	39629											
DEPDC1B	55789	broad.mit.edu	37	5	59894911	59894911	+	Silent	SNP	T	T	C			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr5:59894911T>C	ENST00000265036.5	-	10	1486	c.1419A>G	c.(1417-1419)aaA>aaG	p.K473K	DEPDC1B_ENST00000545085.1_Intron|DEPDC1B_ENST00000453022.2_Intron	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B	473	Poly-Lys.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				CCTGCTTCAGTTTCTTCTTTT	0.343																																																0													73	70	71					5																	59894911		2203	4300	6503	SO:0001819	synonymous_variant	55789			AF303178	CCDS3977.1, CCDS47214.1	5q12	2008-02-05			ENSG00000035499	ENSG00000035499			24902	protein-coding gene	gene with protein product	"breast cancer cell 3"					12477932	Standard	NM_001145208		Approved	XTP1, BRCC3	uc003jsh.3	Q8WUY9	OTTHUMG00000097083	ENST00000265036.5:c.1419A>G	5.37:g.59894911T>C			A8K3R9|B4DUT4|Q86WJ3|Q8IZY6|Q9NUN3|Q9NW57	Silent	SNP	ENST00000265036.5	37	CCDS3977.1																																																																																				0.343	DEPDC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214207.1	NM_018369		C	59894911	T	C	59894911	2	2	710	1	0	0	0	0	0	0	0	1	4442	1722	60	3		3	DEPDC1B	5	59894911	Silent	SNP	T	TCGA-KL-8341-01A-11D-2310-10		59894911	121020349	31	39630											
NR2F1	7025	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	5	92923831	92923831	+	Silent	SNP	G	G	A			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr5:92923831G>A	ENST00000327111.3	+	2	2359	c.672G>A	c.(670-672)gcG>gcA	p.A224A	NR2F1-AS1_ENST00000513055.1_RNA	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	224					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)		AGCTGGCCGCGCGCCTGCTCT	0.657																																																0													74	73	74					5																	92923831		2203	4300	6503	SO:0001819	synonymous_variant	7025			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.672G>A	5.37:g.92923831G>A				Silent	SNP	ENST00000327111.3	37	CCDS4068.1																																																																																				0.657	NR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239293.2	NM_005654		A	92923831	G	A	92923831	2	1	710	1	0	0	0	0	0	0	0	1	10629	1074	38	1		1	NR2F1	5	92923831	Silent	SNP	G	TCGA-KL-8341-01A-11D-2310-10	33028920	92923831	87991429	32	39631											
APC	324	broad.mit.edu	37	5	112155000	112155001	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr5:112155000_112155001insG	ENST00000457016.1	+	10	1651_1652	c.1271_1272insG	c.(1270-1275)caggaafs	p.E425fs	APC_ENST00000508376.2_Frame_Shift_Ins_p.E425fs|APC_ENST00000257430.4_Frame_Shift_Ins_p.E425fs			P25054	APC_HUMAN	adenomatous polyposis coli	425	Leu-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)			NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TGGGAGTGGCAGGAAGCTCATG	0.436		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"E, M, O"	0																																										SO:0001589	frameshift_variant	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	583	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 46"	611731	"adenomatosis polyposis coli"			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.1273dupG	5.37:g.112155002_112155002dupG	ENSP00000413133:p.Glu425fs		D3DT03|Q15162|Q15163|Q93042	Frame_Shift_Ins	INS	ENST00000457016.1	37	CCDS4107.1																																																																																				0.436	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		G	112155001	-	G	112155000	7	5	710	1	0	1	1	0	0	0	0	0	763	188	7	0	1305	0	APC	5	112155000	Frame_Shift_Ins	INS	-	TCGA-KL-8341-01A-11D-2310-10	19231169	112155000	68760260	33	39632											
PCDHB4	56131	mdanderson.org	37	5	140503002	140503002	+	Silent	SNP	C	C	A			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr5:140503002C>A	ENST00000194152.1	+	1	1422	c.1422C>A	c.(1420-1422)gcC>gcA	p.A474A	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	474	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)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A474A(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGTCAGCGCCACAGACAGAG	0.662																																																1	Substitution - coding silent(1)	skin(1)											48	52	51					5																	140503002		2201	4295	6496	SO:0001819	synonymous_variant	56131			AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"Cadherins / Protocadherins : Clustered"	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.1422C>A	5.37:g.140503002C>A			Q4V761	Silent	SNP	ENST00000194152.1	37	CCDS4246.1																																																																																				0.662	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		A	140503002	C	A	140503002	2	1	710	1	0	0	0	0	0	0	0	1	11546	581	21	4		4	PCDHB4	5	140503002	Silent	SNP	C	TCGA-KL-8341-01A-11D-2310-10	28348002	140503002	40412258	34	39633											
PCDH1	5097	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	5	141236865	141236865	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr5:141236865G>A	ENST00000287008.3	-	4	3418	c.3271C>T	c.(3271-3273)Cgc>Tgc	p.R1091C	PCDH1_ENST00000503492.1_Missense_Mutation_p.R359C	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	0					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		GGGGTGGTGCGCTCATAGTGA	0.617																																					Ovarian(132;1609 1739 4190 14731 45037)											0													72	66	68					5																	141236865		2203	4300	6503	SO:0001583	missense	5097			AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"Cadherins / Protocadherins : Non-clustered"	8655	protein-coding gene	gene with protein product		603626	"protocadherin 1 (cadherin-like 1)"			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000287008.3:c.3271C>T	5.37:g.141236865G>A	ENSP00000287008:p.Arg1091Cys		Q8IUP2	Missense_Mutation	SNP	ENST00000287008.3	37	CCDS4267.1	.	.	.	.	.	.	.	.	.	.	G	17.27	3.346335	0.61073	.	.	ENSG00000156453	ENST00000503492;ENST00000287008	T;T	0.70045	-0.45;0.46	5.23	5.23	0.72850	.	0.000000	0.45361	U	0.000367	T	0.81113	0.4755	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.83291	-0.0033	10	0.87932	D	0	.	16.2921	0.82757	0.0:0.0:1.0:0.0	.	1091	Q08174-2	.	C	359;1091	ENSP00000424667:R359C;ENSP00000287008:R1091C	ENSP00000287008:R1091C	R	-	1	0	PCDH1	141217049	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.912000	0.63335	2.433000	0.82419	0.455000	0.32223	CGC		0.617	PCDH1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320587.2	NM_032420		A	141236865	G	A	141236865	3	1	710	1	0	0	0	0	1	0	0	0	11508	1087	38	1	450	1	PCDH1	5	141236865	Missense_Mutation	SNP	G	TCGA-KL-8341-01A-11D-2310-10	733863	141236865	39678395	35	39634											
RNF145	153830	mdanderson.org	37	5	158595995	158595995	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr5:158595995A>G	ENST00000424310.2	-	8	1366	c.1007T>C	c.(1006-1008)gTt>gCt	p.V336A	RNF145_ENST00000274542.2_Missense_Mutation_p.V364A|RNF145_ENST00000519865.1_Missense_Mutation_p.V336A|RNF145_ENST00000518802.1_Missense_Mutation_p.V366A|RNF145_ENST00000521606.2_Missense_Mutation_p.V353A|RNF145_ENST00000520638.1_Missense_Mutation_p.V350A	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	336						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)			TGCCCGATGAACAACCTGCAG	0.413																																																0													128	130	129					5																	158595995		2203	4300	6503	SO:0001583	missense	153830			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.1007T>C	5.37:g.158595995A>G	ENSP00000409064:p.Val336Ala		B7Z903|B7Z949|E7EVI7|Q8IVP7	Missense_Mutation	SNP	ENST00000424310.2	37	CCDS56390.1	.	.	.	.	.	.	.	.	.	.	A	14.47	2.545766	0.45280	.	.	ENSG00000145860	ENST00000274542;ENST00000519865;ENST00000424310;ENST00000521606;ENST00000413445;ENST00000518802;ENST00000535312;ENST00000520638	T;T;T;T;T;T;T	0.77098	-1.07;-1.06;-1.06;-1.07;-1.06;-1.07;-1.07	5.08	5.08	0.68730	.	0.051325	0.85682	D	0.000000	T	0.64800	0.2631	N	0.22421	0.69	0.52501	D	0.999957	B;B;B;P;B	0.35124	0.425;0.425;0.425;0.485;0.372	B;B;B;B;B	0.34652	0.131;0.131;0.182;0.187;0.114	T	0.62642	-0.6811	10	0.15499	T	0.54	-21.9966	15.1444	0.72637	1.0:0.0:0.0:0.0	.	353;350;366;336;364	B7Z949;B7Z903;E7EVI7;Q96MT1;Q96MT1-2	.;.;.;RN145_HUMAN;.	A	364;336;336;352;353;366;336;350	ENSP00000274542:V364A;ENSP00000430397:V336A;ENSP00000409064:V336A;ENSP00000430753:V352A;ENSP00000445115:V353A;ENSP00000430955:V366A;ENSP00000429071:V350A	ENSP00000274542:V364A	V	-	2	0	RNF145	158528573	1.000000	0.71417	0.888000	0.34837	0.907000	0.53573	9.188000	0.94921	2.035000	0.60131	0.477000	0.44152	GTT		0.413	RNF145-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374048.1	NM_144726		G	158595995	A	G	158595995	3	3	710	1	0	0	0	0	1	0	0	0	13453	43	2	3	1000	3	RNF145	5	158595995	Missense_Mutation	SNP	A	TCGA-KL-8341-01A-11D-2310-10	17359130	158595995	22319265	36	39635											
GABRP	2568	broad.mit.edu	37	5	170239019	170239019	+	Silent	SNP	C	C	T			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr5:170239019C>T	ENST00000518525.1	+	11	1544	c.1080C>T	c.(1078-1080)tcC>tcT	p.S360S	GABRP_ENST00000265294.4_Silent_p.S360S|GABRP_ENST00000519385.1_3'UTR			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	360					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)	GCTCCATCTCCAGCTTTAAAC	0.403																																																0													123	114	117					5																	170239019		2203	4300	6503	SO:0001819	synonymous_variant	2568			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.1080C>T	5.37:g.170239019C>T			A8KA36|D3DQL2|Q32MJ1	Silent	SNP	ENST00000518525.1	37	CCDS4375.1																																																																																				0.403	GABRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252834.3	NM_014211		T	170239019	C	T	170239019	2	4	710	1	0	0	0	0	0	0	0	1	6176	581	21	2		2	GABRP	5	170239019	Silent	SNP	C	TCGA-KL-8341-01A-11D-2310-10	11643024	170239019	10676241	37	39636											
OR5V1	81696	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	6	29323612	29323612	+	Missense_Mutation	SNP	C	C	A			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr6:29323612C>A	ENST00000377154.1	-	4	660	c.361G>T	c.(361-363)Gat>Tat	p.D121Y	OR5V1_ENST00000543825.1_Missense_Mutation_p.D121Y			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	121						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D121N(1)		breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATGTAACGATCATATGCCATT	0.403																																					Ovarian(32;43 883 21137 32120 42650)											1	Substitution - Missense(1)	skin(1)											68	69	69					6																	29323612		2203	4299	6502	SO:0001583	missense	81696				CCDS4657.1	6p22.1	2013-09-23				ENSG00000243729		"GPCR / Class A : Olfactory receptors"	13972	protein-coding gene	gene with protein product							Standard	NM_030876		Approved	hs6M1-21	uc011dlo.2	Q9UGF6		ENST00000377154.1:c.361G>T	6.37:g.29323612C>A	ENSP00000366359:p.Asp121Tyr		A2BDZ0|B0S860|Q5SQI9|Q6NTB5|Q8IVL3	Missense_Mutation	SNP	ENST00000377154.1	37	CCDS4657.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.113947	0.77210	.	.	ENSG00000243729	ENST00000377154;ENST00000377151;ENST00000543825	T;T	0.18338	2.22;2.22	4.37	4.37	0.52481	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33875	N	0.004469	T	0.54679	0.1873	H	0.98682	4.3	0.54753	D	0.99998	D	0.89917	1.0	D	0.91635	0.999	T	0.75079	-0.3444	10	0.87932	D	0	-52.0337	17.0395	0.86484	0.0:1.0:0.0:0.0	.	121	Q9UGF6	OR5V1_HUMAN	Y	121	ENSP00000366359:D121Y;ENSP00000443309:D121Y	ENSP00000366356:D121Y	D	-	1	0	OR5V1	29431591	1.000000	0.71417	0.997000	0.53966	0.853000	0.48598	6.782000	0.75073	2.422000	0.82143	0.543000	0.68304	GAT		0.403	OR5V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076398.3			A	29323612	C	A	29323612	3	1	710	1	0	0	0	0	1	0	0	0	11186	826	29	4	607	4	OR5V1	6	29323612	Missense_Mutation	SNP	C	TCGA-KL-8341-01A-11D-2310-10		29323612	141791455	38	39637											
HLA-G	3135	mdanderson.org	37	6	29797430	29797430	+	Silent	SNP	G	G	T			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr6:29797430G>T	ENST00000360323.6	+	4	879	c.855G>T	c.(853-855)gtG>gtT	p.V285V	HLA-G_ENST00000428701.1_Silent_p.V285V|HLA-G_ENST00000376815.3_Intron|HLA-G_ENST00000376828.2_Silent_p.V290V|HLA-G_ENST00000376818.3_Silent_p.V193V			P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	285	Alpha-3.|Ig-like C1-type.				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)|cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						CGTGCCATGTGCAGCATGAGG	0.592																																																0													58	58	58					6																	29797430		2203	4300	6503	SO:0001819	synonymous_variant	3135				CCDS4668.1	6p21.3	2013-01-11	2007-12-12		ENSG00000204632	ENSG00000204632		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4964	protein-coding gene	gene with protein product	"b2 microglobulin"	142871	"HLA-G histocompatibility antigen, class I, G"				Standard	NM_002127		Approved		uc003nnw.2	P17693	OTTHUMG00000031157	ENST00000360323.6:c.855G>T	6.37:g.29797430G>T				Silent	SNP	ENST00000360323.6	37	CCDS4668.1																																																																																				0.592	HLA-G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076286.2	NM_002127		T	29797430	G	T	29797430	2	4	710	1	0	0	0	0	0	0	0	1	7214	1306	46	4		4	HLA-G	6	29797430	Silent	SNP	G	TCGA-KL-8341-01A-11D-2310-10	473818	29797430	141317637	39	39638											
C6orf27	80737	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	6	31734079	31734079	+	Missense_Mutation	SNP	T	T	A			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr6:31734079T>A	ENST00000375688.4	-	15	2467	c.2267A>T	c.(2266-2268)gAt>gTt	p.D756V	VWA7_ENST00000467576.1_5'UTR|SAPCD1-AS1_ENST00000419679.1_RNA|VWA7_ENST00000375686.3_Missense_Mutation_p.D756V			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7	756						extracellular region (GO:0005576)											AAGGTCAAGATCCTGAGGGCC	0.607																																																0													39	34	36					6																	31734079		1511	2709	4220	SO:0001583	missense	80737				CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396			13939	protein-coding gene	gene with protein product		609693	"chromosome 6 open reading frame 27"	C6orf27			Standard	NM_025258		Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132	ENST00000375688.4:c.2267A>T	6.37:g.31734079T>A	ENSP00000364840:p.Asp756Val		A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	Missense_Mutation	SNP	ENST00000375688.4	37	CCDS4721.2	.	.	.	.	.	.	.	.	.	.	T	19.03	3.747583	0.69533	.	.	ENSG00000204396	ENST00000375688;ENST00000375686	T;T	0.16324	2.56;2.35	4.57	4.57	0.56435	.	0.389990	0.23887	N	0.043590	T	0.16385	0.0394	L	0.32530	0.975	0.80722	D	1	D	0.69078	0.997	P	0.62184	0.899	T	0.01283	-1.1396	10	0.62326	D	0.03	-8.1282	10.4849	0.44715	0.0:0.0:0.0:1.0	.	756	Q9Y334	G7C_HUMAN	V	756	ENSP00000364840:D756V;ENSP00000364838:D756V	ENSP00000364838:D756V	D	-	2	0	C6orf27	31842058	1.000000	0.71417	0.977000	0.42913	0.723000	0.41478	3.988000	0.56951	2.044000	0.60594	0.460000	0.39030	GAT		0.607	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076233.2	NM_025258		A	31734079	T	A	31734079	3	1	710	1	0	0	0	0	1	0	0	0	2364	1435	50	5	419	5	C6orf27	6	31734079	Missense_Mutation	SNP	T	TCGA-KL-8341-01A-11D-2310-10	1936649	31734079	139380988	40	39639											
KPNA5	3841	broad.mit.edu;mdanderson.org	37	6	117013533	117013533	+	Silent	SNP	A	A	G			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr6:117013533A>G	ENST00000368564.1	+	4	466	c.318A>G	c.(316-318)aaA>aaG	p.K106K	KPNA5_ENST00000356348.1_Silent_p.K106K			O15131	IMA6_HUMAN	karyopherin alpha 5 (importin alpha 6)	103					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)		CAACACAGAAATTTAGAAAGC	0.274																																																0													70	74	73					6																	117013533		2203	4286	6489	SO:0001819	synonymous_variant	3841			AF005361	CCDS5111.1	6q22.2	2013-02-14			ENSG00000196911	ENSG00000196911		"Importins", "Armadillo repeat containing"	6398	protein-coding gene	gene with protein product		604545				9395085	Standard	NM_002269		Approved	SRP6, IPOA6	uc003pxh.3	O15131	OTTHUMG00000015448	ENST00000368564.1:c.318A>G	6.37:g.117013533A>G			B2RAI5|Q86X23	Silent	SNP	ENST00000368564.1	37	CCDS5111.1																																																																																				0.274	KPNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041967.1	NM_002269		G	117013533	A	G	117013533	2	3	710	1	0	0	0	0	0	0	0	1	8435	98	4	3		3	KPNA5	6	117013533	Silent	SNP	A	TCGA-KL-8341-01A-11D-2310-10	85279454	117013533	54101534	41	39640											
SYNE1	23345	broad.mit.edu;bcgsc.ca	37	6	152642498	152642498	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr6:152642498G>A	ENST00000367255.5	-	84	16712	c.16111C>T	c.(16111-16113)Cga>Tga	p.R5371*	SYNE1_ENST00000448038.1_Nonsense_Mutation_p.R5300*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.R5044*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.R5371*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.R5300*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5371					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)		ATGTTCTGTCGGTGATTTGTG	0.388										HNSCC(10;0.0054)																																						0													100	94	96					6																	152642498		2203	4300	6503	SO:0001587	stop_gained	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.16111C>T	6.37:g.152642498G>A	ENSP00000356224:p.Arg5371*		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Nonsense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	58	31.532104	0.99979	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	.	.	.	5.25	2.3	0.28687	.	0.425694	0.19668	N	0.108839	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.8923	0.63747	0.0:0.0:0.6078:0.3922	.	.	.	.	X	5371;5300;5371;5300;5044	.	ENSP00000265368:R5371X	R	-	1	2	SYNE1	152684191	1.000000	0.71417	0.994000	0.49952	0.984000	0.73092	2.424000	0.44714	0.149000	0.19098	0.563000	0.77884	CGA		0.388	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		A	152642498	G	A	152642498	4	1	710	1	0	0	0	0	0	1	0	0	15450	1124	39	1	10607	1	SYNE1	6	152642498	Nonsense_Mutation	SNP	G	TCGA-KL-8341-01A-11D-2310-10	35628965	152642498	18472569	42	39641											
SLC29A4	222962	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	7	5334542	5334542	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr7:5334542C>T	ENST00000396872.3	+	6	757	c.596C>T	c.(595-597)aCg>aTg	p.T199M	SLC29A4_ENST00000297195.4_Missense_Mutation_p.T199M|SLC29A4_ENST00000406453.3_Missense_Mutation_p.T185M			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	199					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	Metformin(DB00331)	AAGCGGTACACGCAGGGGGTG	0.617																																																0													92	105	101					7																	5334542		2203	4300	6503	SO:0001583	missense	222962			AK075422	CCDS5340.1, CCDS75561.1	7p22.2	2013-07-17	2013-07-17		ENSG00000164638	ENSG00000164638		"Solute carriers"	23097	protein-coding gene	gene with protein product		609149	"solute carrier family 29 (nucleoside transporters), member 4"			12838422	Standard	NM_153247		Approved	FLJ34923, ENT4	uc003soc.3	Q7RTT9	OTTHUMG00000023797	ENST00000396872.3:c.596C>T	7.37:g.5334542C>T	ENSP00000380081:p.Thr199Met		Q6PJ08|Q86WY8|Q8NAR3|Q8NBM2	Missense_Mutation	SNP	ENST00000396872.3	37	CCDS5340.1	.	.	.	.	.	.	.	.	.	.	.	22.7	4.326993	0.81690	.	.	ENSG00000164638	ENST00000396872;ENST00000297195;ENST00000406453	T;T;T	0.81163	-1.46;-1.46;-0.12	4.24	4.24	0.50183	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.85265	0.5657	L	0.42487	1.325	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.992;1.0	D	0.85837	0.1395	10	0.49607	T	0.09	-1.3588	14.4407	0.67314	0.0:1.0:0.0:0.0	.	185;199	Q7RTT9-2;Q7RTT9	.;S29A4_HUMAN	M	199;199;185	ENSP00000380081:T199M;ENSP00000297195:T199M;ENSP00000385845:T185M	ENSP00000297195:T199M	T	+	2	0	SLC29A4	5301068	1.000000	0.71417	0.971000	0.41717	0.739000	0.42172	5.379000	0.66196	1.920000	0.55613	0.561000	0.74099	ACG		0.617	SLC29A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060118.6	NM_153247		T	5334542	C	T	5334542	3	4	710	1	0	0	0	0	1	0	0	0	14543	536	19	1	614	1	SLC29A4	7	5334542	Missense_Mutation	SNP	C	TCGA-KL-8341-01A-11D-2310-10		5334542	153804121	43	39642											
TNRC18	84629	hgsc.bcm.edu	37	7	5428642	5428642	+	Silent	SNP	G	G	A	rs144662045	byFrequency	TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr7:5428642G>A	ENST00000430969.1	-	5	1161	c.813C>T	c.(811-813)acC>acT	p.T271T	TNRC18_ENST00000399537.4_Silent_p.T271T	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	271							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)		CCGCATTCTTGGTCTTGGACT	0.756													G|||	148	0.0295527	0.0	0.0014	5008	,	,		4446	0.1369		0.003	False		,,,				2504	0.0061															0								G		1,3115		0,1,1557	3	3	3		813	0.2	0	7	dbSNP_134	3	6,7046		0,6,3520	no	coding-synonymous	TNRC18	NM_001080495.2		0,7,5077	AA,AG,GG		0.0851,0.0321,0.0688		271/2969	5428642	7,10161	1558	3526	5084	SO:0001819	synonymous_variant	84629			U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"Trinucleotide (CAG) repeat containing"	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.813C>T	7.37:g.5428642G>A			A8MX41|Q96JH1|Q96K91	Silent	SNP	ENST00000430969.1	37	CCDS47534.1																																																																																				0.756	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				A	5428642	G	A	5428642	2	1	710	1	0	0	0	0	0	0	0	1	16344	1335	47	2		2	TNRC18	7	5428642	Silent	SNP	G	TCGA-KL-8341-01A-11D-2310-10	94100	5428642	153710021	44	39643											
POM121	9883	mdanderson.org	37	7	72412591	72412591	+	Missense_Mutation	SNP	G	G	A	rs201184041	byFrequency	TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr7:72412591G>A	ENST00000434423.2	+	11	2059	c.2059G>A	c.(2059-2061)Gct>Act	p.A687T	POM121_ENST00000446813.1_Missense_Mutation_p.A422T|POM121_ENST00000257622.4_Missense_Mutation_p.A422T|POM121_ENST00000395270.1_Missense_Mutation_p.A422T|POM121_ENST00000358357.3_Missense_Mutation_p.A422T			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	687	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)				GGCAGAGACGGCTACCAAACC	0.617																																																0													64	73	70					7																	72412591		2197	4295	6492	SO:0001583	missense	9883			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.2059G>A	7.37:g.72412591G>A	ENSP00000405562:p.Ala687Thr		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000434423.2	37		.	.	.	.	.	.	.	.	.	.	G	11.45	1.643085	0.29246	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.05447	3.44;3.45;3.44;3.45;3.68	2.33	-2.14	0.07123	.	1.146690	0.06730	N	0.776488	T	0.04182	0.0116	N	0.25647	0.755	0.09310	N	1	P;B	0.34587	0.458;0.452	B;B	0.35039	0.194;0.164	T	0.41270	-0.9518	10	0.25751	T	0.34	.	3.0328	0.06112	0.0:0.2841:0.2415:0.4744	.	422;687	A8MXF9;Q96HA1	.;P121A_HUMAN	T	422;422;422;422;687	ENSP00000393020:A422T;ENSP00000257622:A422T;ENSP00000378687:A422T;ENSP00000351124:A422T;ENSP00000405562:A687T	ENSP00000257622:A422T	A	+	1	0	POM121	72050527	0.000000	0.05858	0.000000	0.03702	0.323000	0.28346	-0.717000	0.04986	-0.647000	0.05444	0.173000	0.16961	GCT		0.617	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			A	72412591	G	A	72412591	3	1	710	1	0	0	0	0	1	0	0	0	12241	1203	42	2	1302	2	POM121	7	72412591	Missense_Mutation	SNP	G	TCGA-KL-8341-01A-11D-2310-10	66983949	72412591	86726072	45	39644											
MUC17	140453	hgsc.bcm.edu;mdanderson.org	37	7	100681510	100681510	+	Silent	SNP	T	T	C	rs116767656		TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr7:100681510T>C	ENST00000306151.4	+	3	6877	c.6813T>C	c.(6811-6813)acT>acC	p.T2271T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2271	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)					GCATACCAACTTCAACTCTTA	0.488																																																0													262	265	264					7																	100681510		2203	4300	6503	SO:0001819	synonymous_variant	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.6813T>C	7.37:g.100681510T>C			O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	CCDS34711.1																																																																																				0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		C	100681510	T	C	100681510	2	2	710	1	0	0	0	0	0	0	0	1	9976	1596	56	3		3	MUC17	7	100681510	Silent	SNP	T	TCGA-KL-8341-01A-11D-2310-10	28268919	100681510	58457153	46	39645											
MUC17	140453	mdanderson.org	37	7	100681951	100681951	+	Silent	SNP	C	C	A			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr7:100681951C>A	ENST00000306151.4	+	3	7318	c.7254C>A	c.(7252-7254)tcC>tcA	p.S2418S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2418	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)					GCACCCATTCCACAACTCCTG	0.512																																																0													380	365	370					7																	100681951		2203	4300	6503	SO:0001819	synonymous_variant	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.7254C>A	7.37:g.100681951C>A			O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	CCDS34711.1																																																																																				0.512	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		A	100681951	C	A	100681951	2	1	710	1	0	0	0	0	0	0	0	1	9976	581	21	4		4	MUC17	7	100681951	Silent	SNP	C	TCGA-KL-8341-01A-11D-2310-10	441	100681951	58456712	47	39646											
TAS2R4	50832	mdanderson.org	37	7	141478800	141478800	+	Missense_Mutation	SNP	G	G	A	rs2234002	byFrequency	TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr7:141478800G>A	ENST00000247881.2	+	1	559	c.512G>A	c.(511-513)aGt>aAt	p.S171N	SSBP1_ENST00000465582.1_Intron	NM_016944.1	NP_058640.1	Q9NYW5	TA2R4_HUMAN	taste receptor, type 2, member 4	171			S -> N (in dbSNP:rs2234002).		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)		TTTAATATCAGTGAGGGCATC	0.423													g|||	2461	0.491414	0.1929	0.5663	5008	,	,		22114	0.745		0.4722	False		,,,				2504	0.6002															0								A	ASN/SER	1106,3300	398.5+/-330.9	147,812,1244	263	256	259		512	-8.9	0	7	dbSNP_98	259	4271,4329	574.9+/-390.1	1053,2165,1082	yes	missense	TAS2R4	NM_016944.1	46	1200,2977,2326	AA,AG,GG		49.6628,25.1021,41.3425	benign	171/300	141478800	5377,7629	2203	4300	6503	SO:0001583	missense	50832			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.512G>A	7.37:g.141478800G>A	ENSP00000247881:p.Ser171Asn		Q645W5|Q75MV8	Missense_Mutation	SNP	ENST00000247881.2	37	CCDS5868.1	1081	0.49496336996337	103	0.20934959349593496	198	0.5469613259668509	427	0.7465034965034965	353	0.4656992084432718	g	0.003	-2.486927	0.00161	0.251021	0.496628	ENSG00000127364	ENST00000247881	T	0.00768	5.72	5.06	-8.91	0.00778	.	1.458410	0.03642	N	0.239661	T	0.00012	0.0000	N	0.10760	0.04	0.80722	P	0.0	B	0.02656	0.0	B	0.08055	0.003	T	0.43294	-0.9400	9	0.02654	T	1	.	10.909	0.47097	0.2401:0.2116:0.5482:0.0	rs2234002;rs3735277;rs17523587;rs52816893;rs60480904;rs2234002	171	Q9NYW5	TA2R4_HUMAN	N	171	ENSP00000247881:S171N	ENSP00000247881:S171N	S	+	2	0	TAS2R4	141125269	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.744000	0.04839	-1.732000	0.01359	-0.508000	0.04489	AGT		0.423	TAS2R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349285.1			A	141478800	G	A	141478800	3	1	710	1	0	0	0	0	1	0	0	0	15582	1029	36	2	514	2	TAS2R4	7	141478800	Missense_Mutation	SNP	G	TCGA-KL-8341-01A-11D-2310-10	40796849	141478800	17659863	48	39647											
TAS2R38	5726	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	7	141672852	141672852	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr7:141672852G>A	ENST00000547270.1	-	1	721	c.638C>T	c.(637-639)tCt>tTt	p.S213F		NM_176817.4	NP_789787	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	213					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)			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					CAGCATCCCAGAAGAAACCAG	0.468																																																0													102	109	106					7																	141672852		2203	4300	6503	SO:0001583	missense	5726			AF494231	CCDS34765.1	7q34	2012-10-03	2003-05-29	2003-05-30	ENSG00000257138	ENSG00000257138		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	9584	protein-coding gene	gene with protein product		607751	"phenylthiocarbamide tasting"	PTC		12624758, 12584440	Standard	NM_176817		Approved	T2R61	uc003vwx.1	P59533	OTTHUMG00000158374	ENST00000547270.1:c.638C>T	7.37:g.141672852G>A	ENSP00000448219:p.Ser213Phe		A4D1U6|P59552|Q2M3E8|Q645W3|Q86UK3	Missense_Mutation	SNP	ENST00000547270.1	37	CCDS34765.1	.	.	.	.	.	.	.	.	.	.	G	0.409	-0.914048	0.02415	.	.	ENSG00000257138	ENST00000547270	T	0.37584	1.19	5.0	2.01	0.26516	.	0.248085	0.33650	N	0.004690	T	0.38931	0.1059	L	0.41961	1.31	0.09310	N	1	D	0.69078	0.997	D	0.70227	0.968	T	0.31475	-0.9942	10	0.02654	T	1	.	7.1803	0.25768	0.0918:0.3262:0.582:0.0	.	213	P59533	T2R38_HUMAN	F	213	ENSP00000448219:S213F	ENSP00000331291:S213F	S	-	2	0	TAS2R38	141319321	0.008000	0.16893	0.098000	0.21074	0.345000	0.29048	0.699000	0.25586	0.672000	0.31204	0.655000	0.94253	TCT		0.468	TAS2R38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350810.2	NM_176817		A	141672852	G	A	141672852	3	1	710	1	0	0	0	0	1	0	0	0	15580	942	33	2	367	2	TAS2R38	7	141672852	Missense_Mutation	SNP	G	TCGA-KL-8341-01A-11D-2310-10	194052	141672852	17465811	49	39648											
PRSS1	5644	mdanderson.org	37	7	142460752	142460752	+	Missense_Mutation	SNP	C	C	G	rs140793689		TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr7:142460752C>G	ENST00000311737.7	+	5	631	c.625C>G	c.(625-627)Cag>Gag	p.Q209E	PRSS1_ENST00000486171.1_Missense_Mutation_p.Q223E	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	209	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	CTGCAATGGACAGCTCCAAGG	0.498																																																0													81	82	82					7																	142460752		2203	4300	6503	SO:0001583	missense	5644			M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"Serine peptidases / Serine peptidases"	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.625C>G	7.37:g.142460752C>G	ENSP00000308720:p.Gln209Glu		A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Missense_Mutation	SNP	ENST00000311737.7	37	CCDS5872.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.193364	0.00026	.	.	ENSG00000204983	ENST00000486171;ENST00000311737;ENST00000529243	D;D	0.92752	-3.1;-3.1	3.18	-6.37	0.01963	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.378699	0.32671	N	0.005798	T	0.78142	0.4237	N	0.11818	0.18	0.23758	N	0.996928	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.003	T	0.62539	-0.6833	10	0.02654	T	1	.	15.6905	0.77446	0.0827:0.7314:0.186:0.0	.	223;209	E7EQ64;P07477	.;TRY1_HUMAN	E	223;209;199	ENSP00000417854:Q223E;ENSP00000308720:Q209E	ENSP00000308720:Q209E	Q	+	1	0	PRSS1	142140326	0.000000	0.05858	0.024000	0.17045	0.003000	0.03518	-1.756000	0.01813	-1.839000	0.01186	0.195000	0.17529	CAG		0.498	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2			G	142460752	C	G	142460752	3	3	710	1	0	0	0	0	1	0	0	0	12619	479	17	4	643	4	PRSS1	7	142460752	Missense_Mutation	SNP	C	TCGA-KL-8341-01A-11D-2310-10	787900	142460752	16677911	50	39649											
ADAM28	10863	broad.mit.edu;ucsc.edu	37	8	24170913	24170913	+	Silent	SNP	T	T	C			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr8:24170913T>C	ENST00000265769.4	+	6	506	c.396T>C	c.(394-396)agT>agC	p.S132S	RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000437154.2_Silent_p.S132S|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000397649.3_5'UTR|ADAM28_ENST00000540823.1_Intron	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	132					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)		GCTACTTCAGTCAGGGGGATC	0.383																																					NSCLC(193;488 2149 22258 34798 40734)											0													73	70	71					8																	24170913		2203	4300	6503	SO:0001819	synonymous_variant	10863			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.396T>C	8.37:g.24170913T>C			B2RMV5|Q9Y339|Q9Y3S0	Silent	SNP	ENST00000265769.4	37	CCDS34865.1																																																																																				0.383	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778		C	24170913	T	C	24170913	2	2	710	1	0	0	0	0	0	0	0	1	246	1664	58	3		3	ADAM28	8	24170913	Silent	SNP	T	TCGA-KL-8341-01A-11D-2310-10		24170913	122193109	51	39650											
PABPC1	26986	broad.mit.edu	37	8	101733701	101733702	+	Frame_Shift_Ins	INS	-	-	A	rs149111517		TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr8:101733701_101733702insA	ENST00000318607.5	-	1	1238_1239	c.110_111insT	c.(109-111)atcfs	p.I37fs	PABPC1_ENST00000519004.1_Intron|PABPC1_ENST00000522387.1_Frame_Shift_Ins_p.I37fs	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	37	RRM 1. {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)			GGATGGAGAGGATGGGCCCGGC	0.683																																																0																																										SO:0001589	frameshift_variant	26986			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.111dupT	8.37:g.101733702_101733702dupA	ENSP00000313007:p.Ile37fs		Q15097|Q93004	Frame_Shift_Ins	INS	ENST00000318607.5	37	CCDS6289.1																																																																																				0.683	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568		A	101733702	-	A	101733701	7	5	710	1	0	1	1	0	0	0	0	0	11365	1164	41	0	1855	0	PABPC1	8	101733701	Frame_Shift_Ins	INS	-	TCGA-KL-8341-01A-11D-2310-10	77562788	101733701	44630321	52	39651	328	2	1	78		3	2	23	N	T_-	8.740856e-05
PABPC1	26986	broad.mit.edu	37	8	101733702	101733703	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr8:101733702_101733703insG	ENST00000318607.5	-	1	1237_1238	c.109_110insC	c.(109-111)atcfs	p.I37fs	PABPC1_ENST00000519004.1_Intron|PABPC1_ENST00000522387.1_Frame_Shift_Ins_p.I37fs	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	37	RRM 1. {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)			GATGGAGAGGATGGGCCCGGCC	0.683																																																0																																										SO:0001589	frameshift_variant	26986			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.109_110insC	8.37:g.101733702_101733703insG	ENSP00000313007:p.Ile37fs		Q15097|Q93004	Frame_Shift_Ins	INS	ENST00000318607.5	37	CCDS6289.1																																																																																				0.683	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568		G	101733703	-	G	101733702	7	5	710	1	0	1	1	0	0	0	0	0	11365	333	12	0	1856	0	PABPC1	8	101733702	Frame_Shift_Ins	INS	-	TCGA-KL-8341-01A-11D-2310-10	1	101733702	44630320	53	39652	328	2	1	78		3	2	23	N	T_-	8.740856e-05
PABPC1	26986	broad.mit.edu	37	8	101733723	101733723	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr8:101733723delT	ENST00000318607.5	-	1	1217	c.89delA	c.(88-90)aagfs	p.K30fs	PABPC1_ENST00000519004.1_Intron|PABPC1_ENST00000522387.1_Frame_Shift_Del_p.K30fs	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	30	RRM 1. {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)			CGGGCTGAACTTCTCGTAGAG	0.667																																																0													27	31	30					8																	101733723		2203	4299	6502	SO:0001589	frameshift_variant	26986			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.89delA	8.37:g.101733723delT	ENSP00000313007:p.Lys30fs		Q15097|Q93004	Frame_Shift_Del	DEL	ENST00000318607.5	37	CCDS6289.1																																																																																				0.667	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568		-	101733723	T	-	101733723	7	5	710	1	0	1	0	1	0	0	0	0	11365	1609	56	0	1877	0	PABPC1	8	101733723	Frame_Shift_Del	DEL	T	TCGA-KL-8341-01A-11D-2310-10	21	101733723	44630299	54	39653			1	78		3	2	23	N	T_-	8.740856e-05
UBR5	51366	mdanderson.org;bcgsc.ca	37	8	103277497	103277497	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr8:103277497G>A	ENST00000520539.1	-	53	8038	c.7432C>T	c.(7432-7434)Cga>Tga	p.R2478*	UBR5_ENST00000518205.1_Nonsense_Mutation_p.R206*|UBR5_ENST00000521922.1_Nonsense_Mutation_p.R2471*|UBR5_ENST00000220959.4_Nonsense_Mutation_p.R2477*	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2478	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)			TGGCGCTTTCGGTTTTCCTGC	0.393																																					Ovarian(131;96 1741 5634 7352 27489)											0													73	73	73					8																	103277497		2203	4300	6503	SO:0001587	stop_gained	51366			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.7432C>T	8.37:g.103277497G>A	ENSP00000429084:p.Arg2478*		B2RP24|J3KMW7|O94970|Q9NPL3	Nonsense_Mutation	SNP	ENST00000520539.1	37	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	G	51	18.249704	0.99902	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000518205;ENST00000521922	.	.	.	5.27	3.33	0.38152	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.3267	0.60463	0.0:0.0:0.6066:0.3934	.	.	.	.	X	2478;2477;206;2471	.	ENSP00000220959:R2477X	R	-	1	2	UBR5	103346673	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.583000	0.46094	1.179000	0.42884	0.655000	0.94253	CGA		0.393	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		A	103277497	G	A	103277497	4	1	710	1	0	0	0	0	0	1	0	0	16910	1124	39	1	995	1	UBR5	8	103277497	Nonsense_Mutation	SNP	G	TCGA-KL-8341-01A-11D-2310-10	1543774	103277497	43086525	55	39654											
KLF10	7071	mdanderson.org	37	8	103663512	103663512	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr8:103663512A>G	ENST00000285407.6	-	3	1348	c.1048T>C	c.(1048-1050)Ttt>Ctt	p.F350L	KLF10_ENST00000395884.3_Missense_Mutation_p.F339L	NM_005655.2	NP_005646.1	Q13118	KLF10_HUMAN	Kruppel-like factor 10	350					bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular response to peptide (GO:1901653)|cellular response to starvation (GO:0009267)|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)|positive regulation of osteoclast differentiation (GO:0045672)|regulation of circadian rhythm (GO:0042752)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			GAAGGGGAAAACCCAGGAGCA	0.517																																					Esophageal Squamous(16;495 519 2144 16528 44005)											0													82	94	90					8																	103663512		2203	4300	6503	SO:0001583	missense	7071			U21847	CCDS6294.1, CCDS47905.1	8q22.3	2014-09-17	2004-11-29	2004-12-01	ENSG00000155090	ENSG00000155090		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	11810	protein-coding gene	gene with protein product		601878	"TGFB inducible early growth response"	TIEG		8584037, 9721211	Standard	NM_001032282		Approved	EGRA, TIEG1	uc011lhk.1	Q13118	OTTHUMG00000164735	ENST00000285407.6:c.1048T>C	8.37:g.103663512A>G	ENSP00000285407:p.Phe350Leu		A8MVH0|B2R794|L0R4P6|L0R679|O75411|Q503B2	Missense_Mutation	SNP	ENST00000285407.6	37	CCDS6294.1	.	.	.	.	.	.	.	.	.	.	A	12.48	1.950337	0.34377	.	.	ENSG00000155090	ENST00000285407;ENST00000395884	T;T	0.13089	2.62;2.68	5.5	4.35	0.52113	.	0.151335	0.47852	N	0.000211	T	0.12732	0.0309	M	0.64997	1.995	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.001;0.002	T	0.33033	-0.9884	10	0.15499	T	0.54	.	6.6187	0.22790	0.7913:0.0:0.0722:0.1366	.	350;339	Q13118;O75411	KLF10_HUMAN;.	L	350;339	ENSP00000285407:F350L;ENSP00000379222:F339L	ENSP00000285407:F350L	F	-	1	0	KLF10	103732688	0.947000	0.32204	0.179000	0.23059	0.987000	0.75469	3.510000	0.53393	1.033000	0.39918	0.533000	0.62120	TTT		0.517	KLF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379967.1			G	103663512	A	G	103663512	3	3	710	1	0	0	0	0	1	0	0	0	8340	43	2	3	402	3	KLF10	8	103663512	Missense_Mutation	SNP	A	TCGA-KL-8341-01A-11D-2310-10	386015	103663512	42700510	56	39655											
RIMS2	9699	broad.mit.edu	37	8	104513292	104513292	+	Splice_Site	DEL	T	T	-			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr8:104513292delT	ENST00000406091.3	+	1	176		c.e1+2		RP11-1C8.4_ENST00000517376.1_RNA|RP11-1C8.4_ENST00000523422.1_RNA	NM_001100117.2	NP_001093587.1	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2						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)			CGTGCTCAAGTAAGGACCTGG	0.652										HNSCC(12;0.0054)																																						0													29	34	33					8																	104513292		1977	4133	6110	SO:0001630	splice_region_variant	9699			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		ENST00000406091.3:c.176+2T>-	8.37:g.104513292delT			B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Splice_Site	DEL	ENST00000406091.3	37	CCDS55269.1																																																																																				0.652	RIMS2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001100117	Intron	-	104513292	T	-	104513292	8	5	710	1	0	1	0	1	0	0	1	0	13374	1652	57	0	180	0	RIMS2	8	104513292	Splice_Site	DEL	T	TCGA-KL-8341-01A-11D-2310-10	849780	104513292	41850730	57	39656											
LRP12	29967	ucsc.edu;bcgsc.ca	37	8	105510296	105510296	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr8:105510296C>T	ENST00000276654.5	-	5	592	c.484G>A	c.(484-486)Gag>Aag	p.E162K	LRP12_ENST00000518375.1_5'Flank|LRP12_ENST00000424843.2_Missense_Mutation_p.E143K	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	162					endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TTTGGTTCCTCAGATTTCCCT	0.333																																																0													72	69	70					8																	105510296		2203	4300	6503	SO:0001583	missense	29967			AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"Low density lipoprotein receptors"	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.484G>A	8.37:g.105510296C>T	ENSP00000276654:p.Glu162Lys		A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000276654.5	37	CCDS6303.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.611264	0.28712	.	.	ENSG00000147650	ENST00000424843;ENST00000276654	D;D	0.84442	-1.85;-1.78	5.5	5.5	0.81552	.	0.101931	0.64402	D	0.000002	T	0.78679	0.4321	L	0.40543	1.245	0.80722	D	1	B;B	0.20164	0.042;0.025	B;B	0.26310	0.068;0.031	T	0.71210	-0.4660	10	0.09590	T	0.72	-16.7257	13.6751	0.62449	0.0:0.9266:0.0:0.0734	.	143;162	Q9Y561-2;Q9Y561	.;LRP12_HUMAN	K	143;162	ENSP00000399148:E143K;ENSP00000276654:E162K	ENSP00000276654:E162K	E	-	1	0	LRP12	105579472	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.681000	0.61663	2.584000	0.87258	0.563000	0.77884	GAG		0.333	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1	NM_013437		T	105510296	C	T	105510296	3	4	710	1	0	0	0	0	1	0	0	0	8956	835	29	2	2107	2	LRP12	8	105510296	Missense_Mutation	SNP	C	TCGA-KL-8341-01A-11D-2310-10	997004	105510296	40853726	58	39657											
HAS2	3037	broad.mit.edu	37	8	122626903	122626903	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr8:122626903A>G	ENST00000303924.4	-	4	1642	c.1105T>C	c.(1105-1107)Ttt>Ctt	p.F369L		NM_005328.2	NP_005319.1	Q92819	HYAS2_HUMAN	hyaluronan synthase 2	369					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)			TGTTTGTGAAACCACATTGCA	0.448																																																0													174	149	157					8																	122626903		2203	4300	6503	SO:0001583	missense	3037			U54804	CCDS6335.1	8q24.12	2013-02-22			ENSG00000170961	ENSG00000170961	2.4.1.212	"Glycosyltransferase family 2 domain containing"	4819	protein-coding gene	gene with protein product		601636				9169154	Standard	NM_005328		Approved		uc003yph.2	Q92819	OTTHUMG00000164953	ENST00000303924.4:c.1105T>C	8.37:g.122626903A>G	ENSP00000306991:p.Phe369Leu		Q32MM3	Missense_Mutation	SNP	ENST00000303924.4	37	CCDS6335.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.214257	0.79352	.	.	ENSG00000170961	ENST00000303924	T	0.58060	0.36	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.53610	0.1807	L	0.28014	0.82	0.80722	D	1	D	0.56287	0.975	P	0.58660	0.843	T	0.45205	-0.9277	10	0.09084	T	0.74	-22.3438	16.5427	0.84406	1.0:0.0:0.0:0.0	.	369	Q92819	HAS2_HUMAN	L	369	ENSP00000306991:F369L	ENSP00000306991:F369L	F	-	1	0	HAS2	122696084	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.318000	0.96334	2.309000	0.77851	0.448000	0.29417	TTT		0.448	HAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381150.2	NM_005328		G	122626903	A	G	122626903	3	3	710	1	0	0	0	0	1	0	0	0	6964	43	2	3	557	3	HAS2	8	122626903	Missense_Mutation	SNP	A	TCGA-KL-8341-01A-11D-2310-10	17116607	122626903	23737119	59	39658											
ZC3H3	23144	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	8	144550602	144550602	+	Silent	SNP	G	G	A			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr8:144550602G>A	ENST00000262577.5	-	7	2086	c.2055C>T	c.(2053-2055)ggC>ggT	p.G685G		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	685					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)			GGCAGCGCTCGCCACGGTTGC	0.672																																																0													32	34	33					8																	144550602		2193	4298	6491	SO:0001819	synonymous_variant	23144			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.2055C>T	8.37:g.144550602G>A			Q14163|Q8N4E2|Q9BUS4	Silent	SNP	ENST00000262577.5	37	CCDS6402.1																																																																																				0.672	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382011.2	NM_015117		A	144550602	G	A	144550602	2	1	710	1	0	0	0	0	0	0	0	1	17574	1074	38	1		1	ZC3H3	8	144550602	Silent	SNP	G	TCGA-KL-8341-01A-11D-2310-10	21923699	144550602	1813420	60	39659											
MCART1	92014	mdanderson.org	37	9	37888331	37888331	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr9:37888331T>C	ENST00000377716.2	-	3	960	c.217A>G	c.(217-219)Aga>Gga	p.R73G	SLC25A51_ENST00000380590.3_Missense_Mutation_p.R73G|SLC25A51_ENST00000242275.6_Missense_Mutation_p.R73G|SLC25A51_ENST00000496760.1_Intron|RP11-613M10.9_ENST00000540557.1_Intron			Q9H1U9	S2551_HUMAN	solute carrier family 25, member 51	73					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)											CCATCCCTTCTCAACTGAAGT	0.438																																																0													113	101	105					9																	37888331		2203	4300	6503	SO:0001583	missense	92014			BC008500	CCDS6614.1	9p13.3-p12	2013-05-22	2012-03-29	2012-03-29	ENSG00000122696	ENSG00000122696		"Solute carriers"	23323	protein-coding gene	gene with protein product			"mitochondrial carrier triple repeat 1"	MCART1		12477932	Standard	NM_033412		Approved	MGC14836, CG7943	uc004aav.2	Q9H1U9	OTTHUMG00000019935	ENST00000377716.2:c.217A>G	9.37:g.37888331T>C	ENSP00000366945:p.Arg73Gly			Missense_Mutation	SNP	ENST00000377716.2	37	CCDS6614.1	.	.	.	.	.	.	.	.	.	.	.	15.70	2.910659	0.52439	.	.	ENSG00000122696	ENST00000380590;ENST00000377716;ENST00000242275	T;T;T	0.80480	-1.38;-1.38;-1.38	5.18	-0.605	0.11623	Mitochondrial carrier domain (2);	0.207650	0.39687	N	0.001283	D	0.83018	0.5163	M	0.82132	2.575	0.36010	D	0.838007	B	0.20780	0.048	B	0.38020	0.263	D	0.84228	0.0465	10	0.62326	D	0.03	.	13.6954	0.62575	0.0:0.0:0.6378:0.3622	.	73	Q9H1U9	MCAR1_HUMAN	G	73	ENSP00000369964:R73G;ENSP00000366945:R73G;ENSP00000242275:R73G	ENSP00000242275:R73G	R	-	1	2	MCART1	37878331	1.000000	0.71417	0.951000	0.38953	0.903000	0.53119	2.106000	0.41835	0.278000	0.22164	0.477000	0.44152	AGA		0.438	SLC25A51-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313746.1	NM_033412		C	37888331	T	C	37888331	3	2	710	1	0	0	0	0	1	0	0	0	9371	1559	54	3	680	3	MCART1	9	37888331	Missense_Mutation	SNP	T	TCGA-KL-8341-01A-11D-2310-10		37888331	103325100	61	39660											
FAM22G	441457	broad.mit.edu	37	9	99701229	99701231	+	In_Frame_Del	DEL	CTT	CTT	-	rs201499337|rs372223045		TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	CTT	CTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr9:99701229_99701231delCTT	ENST00000372322.3	+	7	2045_2047	c.2024_2026delCTT	c.(2023-2028)ccttct>cct	p.S676del	HIATL2_ENST00000506067.1_Intron|NUTM2G_ENST00000354649.3_Intron	NM_001170741.1	NP_001164212.1	Q5VZR2	NTM2G_HUMAN	NUT family member 2G	676																	AGCCCATCACCTTCTCCTGCCAG	0.611																																																0									,	59,2459		28,3,1228					,	-2	0			46	135,6387		64,7,3190	no	coding,intron	FAM22G	NM_001170741.1,NM_001045477.2	,	92,10,4418	A1A1,A1R,RR		2.0699,2.3431,2.146	,	,		194,8846				SO:0001651	inframe_deletion	441457				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.2024_2026delCTT	9.37:g.99701229_99701231delCTT	ENSP00000361397:p.Ser676del		A6NNI5|Q5VZR3	In_Frame_Del	DEL	ENST00000372322.3	37	CCDS55329.1																																																																																				0.611	NUTM2G-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053291.2	NM_001170741		-	99701231	CTT	-	99701229	7	5	710	1	0	1	0	1	0	0	0	0	5548	681	24	0	2050	0	FAM22G	9	99701229	In_Frame_Del	DEL	CTT	TCGA-KL-8341-01A-11D-2310-10	61812898	99701229	41512202	62	39661											
OR13C2	392376	broad.mit.edu	37	9	107367738	107367738	+	Silent	SNP	G	G	C			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr9:107367738G>C	ENST00000542196.1	-	1	213	c.171C>G	c.(169-171)acC>acG	p.T57T		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	57						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(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						AGTACATAGGGGTGTGAAGGT	0.448																																																0													17	18	18					9																	107367738		2179	4273	6452	SO:0001819	synonymous_variant	392376				CCDS35092.1	9q31.1	2012-10-03			ENSG00000257019	ENSG00000276119		"GPCR / Class A : Olfactory receptors"	14701	protein-coding gene	gene with protein product							Standard	NM_001004481		Approved		uc011lvq.2	Q8NGS9	OTTHUMG00000020415	ENST00000542196.1:c.171C>G	9.37:g.107367738G>C			B9EGV8|Q6IF54	Silent	SNP	ENST00000542196.1	37	CCDS35092.1																																																																																				0.448	OR13C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053489.2	NM_001004481		C	107367738	G	C	107367738	2	2	710	1	0	0	0	0	0	0	0	1	10936	1219	43	4		4	OR13C2	9	107367738	Silent	SNP	G	TCGA-KL-8341-01A-11D-2310-10	7666509	107367738	33845693	63	39662											
KCNMA1	3778	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	10	78649263	78649263	+	Missense_Mutation	SNP	C	C	A			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr10:78649263C>A	ENST00000286628.8	-	27	3406	c.3407G>T	c.(3406-3408)gGa>gTa	p.G1136V	RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000404857.1_Missense_Mutation_p.G1119V|RP11-443A13.5_ENST00000429850.2_RNA|KCNMA1_ENST00000372440.1_Missense_Mutation_p.G1078V|KCNMA1_ENST00000404771.3_Missense_Mutation_p.G1136V|KCNMA1_ENST00000372443.1_Missense_Mutation_p.G1105V|KCNMA1_ENST00000286627.5_Missense_Mutation_p.G1078V|RP11-443A13.5_ENST00000595702.1_RNA|RP11-443A13.5_ENST00000609102.1_RNA|KCNMA1_ENST00000406533.3_Missense_Mutation_p.G1140V|KCNMA1_ENST00000354353.5_Missense_Mutation_p.G1139V	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	1136					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)	CCGGTAAATTCCAAAACAAAG	0.443																																																0													88	87	87					10																	78649263		2203	4300	6503	SO:0001583	missense	3778			U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6284	protein-coding gene	gene with protein product	"BK channel alpha subunit"	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.3407G>T	10.37:g.78649263C>A	ENSP00000286628:p.Gly1136Val		F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP	ENST00000286628.8	37		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	23.3|23.3|23.3	4.404355|4.404355|4.404355	0.83230|0.83230|0.83230	.|.|.	.|.|.	ENSG00000156113|ENSG00000156113|ENSG00000156113	ENST00000372403|ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708|ENST00000372421;ENST00000434208	.|D;D;D;D;D;D;D;D;D|.	.|0.95949|.	.|-3.77;-3.73;-3.79;-3.83;-3.71;-3.73;-3.86;-3.85;-3.69|.	6.17|6.17|6.17	5.27|5.27|5.27	0.74061|0.74061|0.74061	.|.|.	.|0.047500|.	.|0.85682|.	.|D|.	.|0.000000|.	.|T|T	.|0.74650|0.74650	.|0.3744|0.3744	M|M|M	0.76170|0.76170|0.76170	2.325|2.325|2.325	0.80722|0.80722|0.80722	D|D|D	1|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|.	.|1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0|.	.|T|T	.|0.75687|0.75687	.|-0.3231|-0.3231	.|10|5	.|0.87932|.	.|D|.	.|0|.	-9.6059|-9.6059|-9.6059	15.336|15.336|15.336	0.74255|0.74255|0.74255	0.0:0.9338:0.0:0.0662|0.0:0.9338:0.0:0.0662|0.0:0.9338:0.0:0.0662	.|.|.	.|1107;1108;1119;1136;1078;889;1139;1105|.	.|Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;C9JFZ9;F8WA96;Q5SVJ7|.	.|.;.;.;KCMA1_HUMAN;.;.;.;.|.	X|V|C	1029|1078;1015;1071;1110;1073;1105;1078;1110;1140;1139;1119;889|1066;785	.|ENSP00000361517:G1078V;ENSP00000361485:G1015V;ENSP00000361514:G1071V;ENSP00000396608:G1110V;ENSP00000361520:G1105V;ENSP00000286627:G1078V;ENSP00000385552:G1140V;ENSP00000346321:G1139V;ENSP00000385806:G1119V|.	.|ENSP00000286627:G1078V|.	E|G|W	-|-|-	1|2|3	0|0|0	KCNMA1|KCNMA1|KCNMA1	78319269|78319269|78319269	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.995000|0.995000|0.995000	0.86356|0.86356|0.86356	7.487000|7.487000|7.487000	0.81328|0.81328|0.81328	1.630000|1.630000|1.630000	0.50440|0.50440|0.50440	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAA|GGA|TGG		0.443	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247		A	78649263	C	A	78649263	3	1	710	1	0	0	0	0	1	0	0	0	8075	855	30	4	340	4	KCNMA1	10	78649263	Missense_Mutation	SNP	C	TCGA-KL-8341-01A-11D-2310-10		78649263	56885484	64	39663											
MUC6	4588	mdanderson.org	37	11	1018031	1018031	+	Silent	SNP	G	G	A	rs10751678	byFrequency	TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr11:1018031G>A	ENST00000421673.2	-	31	4820	c.4770C>T	c.(4768-4770)ccC>ccT	p.P1590P		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1590	Pro-rich.|Thr-rich.				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)		TTGCCGTCATGGGACCTGTGG	0.582																																																0													259	261	260					11																	1018031		2159	4236	6395	SO:0001819	synonymous_variant	4588			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.4770C>T	11.37:g.1018031G>A			O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	CCDS44513.1																																																																																				0.582	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		A	1018031	G	A	1018031	2	1	710	1	0	0	0	0	0	0	0	1	9982	1335	47	2		2	MUC6	11	1018031	Silent	SNP	G	TCGA-KL-8341-01A-11D-2310-10		1018031	133988485	65	39664											
MUC2	4583	mdanderson.org	37	11	1092459	1092459	+	Silent	SNP	C	C	A	rs374506032		TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr11:1092459C>A	ENST00000441003.2	+	30	4305	c.4278C>A	c.(4276-4278)acC>acA	p.T1426T	MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000361558.6_Intron|MUC2_ENST00000359061.5_Silent_p.T1427T	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4232	Approximate repeats.				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)	gccctccaaccaccaccacaa	0.617																																																0													126	187	167					11																	1092459		1722	3421	5143	SO:0001819	synonymous_variant	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.4278C>A	11.37:g.1092459C>A			Q14878	Silent	SNP	ENST00000441003.2	37																																																																																					0.617	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		A	1092459	C	A	1092459	2	1	710	1	0	0	0	0	0	0	0	1	9977	581	21	4		4	MUC2	11	1092459	Silent	SNP	C	TCGA-KL-8341-01A-11D-2310-10	74428	1092459	133914057	66	39665											
MUC2	4583	mdanderson.org	37	11	1092953	1092953	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr11:1092953C>T	ENST00000441003.2	+	30	4799	c.4772C>T	c.(4771-4773)aCg>aTg	p.T1591M	MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000361558.6_Intron|MUC2_ENST00000359061.5_Splice_Site_p.T1592M	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				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)		p.T1592M(1)|p.T1591M(1)		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)	accaccactacggtgacccca	0.627																																																2	Substitution - Missense(2)	endometrium(2)											54	86	74					11																	1092953		1812	3313	5125	SO:0001583	missense	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.4772C>T	11.37:g.1092953C>T	ENSP00000415183:p.Thr1591Met		Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	C	3.179	-0.168424	0.06461	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.16743	2.32;2.56	1.75	-0.619	0.11572	.	6.725620	0.00827	U	0.001636	T	0.08846	0.0219	.	.	.	0.09310	N	1	D	0.60575	0.988	B	0.34489	0.184	T	0.24548	-1.0157	9	0.32370	T	0.25	.	3.3423	0.07123	0.2481:0.5888:0.0:0.163	.	1591	E7EUV1	.	M	1591;1592	ENSP00000415183:T1591M;ENSP00000351956:T1592M	ENSP00000351956:T1592M	T	+	2	0	MUC2	1082953	0.064000	0.20934	0.000000	0.03702	0.189000	0.23516	1.615000	0.36922	-0.313000	0.08728	0.121000	0.15741	ACG		0.627	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		T	1092953	C	T	1092953	3	4	710	1	0	0	0	0	1	0	0	0	9977	536	19	1	4890	1	MUC2	11	1092953	Missense_Mutation	SNP	C	TCGA-KL-8341-01A-11D-2310-10	494	1092953	133913563	67	39666											
OR2AG1	144125	mdanderson.org	37	11	6806963	6806963	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr11:6806963A>G	ENST00000307401.4	+	1	716	c.695A>G	c.(694-696)gAg>gGg	p.E232G		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, 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)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CCATCAAATGAGGGGAGGAAG	0.488																																																0													191	167	175					11																	6806963		2201	4296	6497	SO:0001583	missense	144125			AB065823	CCDS31414.1	11p15.4	2012-08-09			ENSG00000170803	ENSG00000170803		"GPCR / Class A : Olfactory receptors"	15142	protein-coding gene	gene with protein product				OR2AG3			Standard	NM_001004489		Approved		uc001mer.2	Q9H205	OTTHUMG00000165735	ENST00000307401.4:c.695A>G	11.37:g.6806963A>G	ENSP00000307447:p.Glu232Gly		B9EKV7|Q6IFG7|Q96R26	Missense_Mutation	SNP	ENST00000307401.4	37	CCDS31414.1	.	.	.	.	.	.	.	.	.	.	A	10.81	1.455720	0.26161	.	.	ENSG00000170803	ENST00000307401	T	0.00207	8.55	4.32	3.18	0.36537	GPCR, rhodopsin-like superfamily (1);	0.262449	0.27262	N	0.020175	T	0.00178	0.0005	L	0.46567	1.45	0.09310	N	1	B	0.23540	0.087	B	0.33799	0.17	T	0.32322	-0.9911	10	0.66056	D	0.02	.	5.2013	0.15267	0.6326:0.1874:0.0:0.1801	.	232	Q9H205	O2AG1_HUMAN	G	232	ENSP00000307447:E232G	ENSP00000307447:E232G	E	+	2	0	OR2AG1	6763539	0.000000	0.05858	0.752000	0.31206	0.992000	0.81027	0.285000	0.18883	0.800000	0.34041	0.533000	0.62120	GAG		0.488	OR2AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385980.1	NM_001004489		G	6806963	A	G	6806963	3	3	710	1	0	0	0	0	1	0	0	0	10986	304	11	3	697	3	OR2AG1	11	6806963	Missense_Mutation	SNP	A	TCGA-KL-8341-01A-11D-2310-10	5714010	6806963	128199553	68	39667											
PARVA	55742	broad.mit.edu	37	11	12399324	12399324	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr11:12399324A>G	ENST00000550549.1	+	1	179	c.130A>G	c.(130-132)Aag>Gag	p.K44E	PARVA_ENST00000539723.1_Missense_Mutation_p.K44E|PARVA_ENST00000334956.8_Missense_Mutation_p.K84E			Q9NVD7	PARVA_HUMAN	parvin, alpha	44					actin cytoskeleton reorganization (GO:0031532)|actin-mediated cell contraction (GO:0070252)|cell junction assembly (GO:0034329)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|heterotypic cell-cell adhesion (GO:0034113)|outflow tract septum morphogenesis (GO:0003148)|regulation of cell shape (GO:0008360)|smooth muscle cell chemotaxis (GO:0071670)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)	11				Epithelial(150;0.00624)		GAAGAAAGCCAAGGAGGGTGA	0.716																																																0													10	12	11					11																	12399324		1818	4020	5838	SO:0001583	missense	55742			AF237771	CCDS44541.1, CCDS44541.2	11p15.3	2014-06-13	2005-05-26		ENSG00000197702	ENSG00000197702		"Parvins"	14652	protein-coding gene	gene with protein product		608120	"matrix-remodelling associated 2"	MXRA2		11171322	Standard	NM_018222		Approved	FLJ12254, FLJ10793	uc001mki.4	Q9NVD7	OTTHUMG00000165778	ENST00000550549.1:c.130A>G	11.37:g.12399324A>G	ENSP00000447198:p.Lys44Glu		Q96C85|Q9HA48	Missense_Mutation	SNP	ENST00000550549.1	37		.	.	.	.	.	.	.	.	.	.	A	14.17	2.454402	0.43634	.	.	ENSG00000197702	ENST00000334956;ENST00000539723;ENST00000550549	T;T;T	0.42131	0.98;0.98;0.98	4.45	3.3	0.37823	Calponin homology domain (1);	0.134476	0.47852	D	0.000211	T	0.36663	0.0975	L	0.55213	1.73	0.80722	D	1	B;B	0.32753	0.002;0.383	B;B	0.32928	0.005;0.155	T	0.11916	-1.0568	10	0.42905	T	0.14	-5.5035	10.0079	0.41968	0.8485:0.0:0.0:0.1515	.	44;44	Q9NVD7;Q9NVD7-2	PARVA_HUMAN;.	E	84;44;44	ENSP00000334008:K84E;ENSP00000438967:K44E;ENSP00000447198:K44E	ENSP00000334008:K84E	K	+	1	0	PARVA	12355900	1.000000	0.71417	1.000000	0.80357	0.563000	0.35712	6.113000	0.71553	0.554000	0.29061	0.379000	0.24179	AAG		0.716	PARVA-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_018222		G	12399324	A	G	12399324	3	3	710	1	0	0	0	0	1	0	0	0	11470	131	5	3	132	3	PARVA	11	12399324	Missense_Mutation	SNP	A	TCGA-KL-8341-01A-11D-2310-10	5592361	12399324	122607192	69	39668											
OR5AK2	390181	broad.mit.edu;ucsc.edu	37	11	56756940	56756940	+	Silent	SNP	T	T	A			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr11:56756940T>A	ENST00000326855.2	+	1	594	c.552T>A	c.(550-552)atT>atA	p.I184I		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	184						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						TTCCCCCTATTCTTGCTCTTT	0.408																																																0													347	311	323					11																	56756940		2201	4296	6497	SO:0001819	synonymous_variant	390181			AB065496	CCDS31538.1	11q11	2012-08-09			ENSG00000181273	ENSG00000181273		"GPCR / Class A : Olfactory receptors"	15251	protein-coding gene	gene with protein product							Standard	NM_001005323		Approved		uc010rjp.2	Q8NH90	OTTHUMG00000167019	ENST00000326855.2:c.552T>A	11.37:g.56756940T>A			B2RNZ9	Silent	SNP	ENST00000326855.2	37	CCDS31538.1																																																																																				0.408	OR5AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392446.1	NM_001005323		A	56756940	T	A	56756940	2	1	710	1	0	0	0	0	0	0	0	1	11144	1771	62	5		5	OR5AK2	11	56756940	Silent	SNP	T	TCGA-KL-8341-01A-11D-2310-10	44357616	56756940	78249576	70	39669	329	2									
OR5AK2	390181	bcgsc.ca	37	11	56756941	56756941	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr11:56756941C>T	ENST00000326855.2	+	1	595	c.553C>T	c.(553-555)Ctt>Ttt	p.L185F		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	185						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						TCCCCCTATTCTTGCTCTTTC	0.408																																																0													348	311	324					11																	56756941		2201	4296	6497	SO:0001583	missense	390181			AB065496	CCDS31538.1	11q11	2012-08-09			ENSG00000181273	ENSG00000181273		"GPCR / Class A : Olfactory receptors"	15251	protein-coding gene	gene with protein product							Standard	NM_001005323		Approved		uc010rjp.2	Q8NH90	OTTHUMG00000167019	ENST00000326855.2:c.553C>T	11.37:g.56756941C>T	ENSP00000322784:p.Leu185Phe		B2RNZ9	Missense_Mutation	SNP	ENST00000326855.2	37	CCDS31538.1	.	.	.	.	.	.	.	.	.	.	C	7.340	0.620621	0.14193	.	.	ENSG00000181273	ENST00000326855	T	0.00325	8.1	3.85	0.549	0.17213	GPCR, rhodopsin-like superfamily (1);	0.222920	0.22703	N	0.056674	T	0.00440	0.0014	M	0.64676	1.99	0.09310	N	1	D	0.67145	0.996	D	0.70716	0.97	T	0.48614	-0.9020	10	0.56958	D	0.05	-30.6449	8.696	0.34296	0.1499:0.5052:0.3448:0.0	.	185	Q8NH90	O5AK2_HUMAN	F	185	ENSP00000322784:L185F	ENSP00000322784:L185F	L	+	1	0	OR5AK2	56513517	0.000000	0.05858	0.188000	0.23233	0.040000	0.13550	-1.136000	0.03222	0.014000	0.14944	0.194000	0.17425	CTT		0.408	OR5AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392446.1	NM_001005323		T	56756941	C	T	56756941	3	4	710	1	0	0	0	0	1	0	0	0	11144	913	32	2	555	2	OR5AK2	11	56756941	Missense_Mutation	SNP	C	TCGA-KL-8341-01A-11D-2310-10	1	56756941	78249575	71	39670	329	2									
UCP2	7351	ucsc.edu;mdanderson.org;bcgsc.ca	37	11	73686146	73686146	+	Missense_Mutation	SNP	C	C	T	rs376686039		TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr11:73686146C>T	ENST00000310473.3	-	8	1678	c.836G>A	c.(835-837)cGc>cAc	p.R279H	UCP2_ENST00000536983.1_Missense_Mutation_p.A219T	NM_003355.2	NP_003346.2	P55851	UCP2_HUMAN	uncoupling protein 2 (mitochondrial, proton carrier)	279	Purine nucleotide binding. {ECO:0000250}.				aging (GO:0007568)|cellular metabolic process (GO:0044237)|cellular response to amino acid starvation (GO:0034198)|cellular response to glucose stimulus (GO:0071333)|cellular response to insulin stimulus (GO:0032869)|female pregnancy (GO:0007565)|liver regeneration (GO:0097421)|mitochondrial transport (GO:0006839)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|positive regulation of cell death (GO:0010942)|proton transport (GO:0015992)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to superoxide (GO:0000303)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				large_intestine(1)|lung(3)|prostate(1)	5	Breast(11;0.000112)					GGAACCCAAGCGGAGAAAGGA	0.567																																					Colon(191;388 2040 43557 45622 48925)											0													85	71	75					11																	73686146		2200	4293	6493	SO:0001583	missense	7351			U76367	CCDS8228.1	11q13	2014-02-12						"Solute carriers"	12518	protein-coding gene	gene with protein product		601693	"body mass index QTL 4", "body mass index quantitative trait 4"	BMIQ4		9196039, 11381268	Standard	NM_003355		Approved	SLC25A8	uc001oup.1	P55851		ENST00000310473.3:c.836G>A	11.37:g.73686146C>T	ENSP00000312029:p.Arg279His		Q4PJH8|Q53HM3	Missense_Mutation	SNP	ENST00000310473.3	37	CCDS8228.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.6|24.6	4.550502|4.550502	0.86127|0.86127	.|.	.|.	ENSG00000175567|ENSG00000175567	ENST00000536983|ENST00000310473;ENST00000544615	T|D;D	0.79653|0.81996	-1.29|-1.56;-1.56	5.43|5.43	5.43|5.43	0.79202|0.79202	.|Mitochondrial carrier domain (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.94637|0.94637	0.8271|0.8271	H|H	0.97874|0.97874	4.095|4.095	0.44104|0.44104	D|D	0.996874|0.996874	B|D	0.16802|0.76494	0.019|0.999	B|D	0.17722|0.71184	0.019|0.972	D|D	0.96186|0.96186	0.9134|0.9134	9|10	0.27082|0.87932	T|D	0.32|0	-2.7097|-2.7097	17.9618|17.9618	0.89087|0.89087	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	219|279	F5GX45|P55851	.|UCP2_HUMAN	T|H	219|279;252	ENSP00000441147:A219T|ENSP00000312029:R279H;ENSP00000439951:R252H	ENSP00000441147:A219T|ENSP00000312029:R279H	A|R	-|-	1|2	0|0	UCP2|UCP2	73363794|73363794	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.528000|7.528000	0.81941|0.81941	2.825000|2.825000	0.97269|0.97269	0.655000|0.655000	0.94253|0.94253	GCT|CGC		0.567	UCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398108.1	NM_003355		T	73686146	C	T	73686146	3	4	710	1	0	0	0	0	1	0	0	0	16936	768	27	1	97	1	UCP2	11	73686146	Missense_Mutation	SNP	C	TCGA-KL-8341-01A-11D-2310-10	16929205	73686146	61320370	72	39671											
DLG2	1740	broad.mit.edu	37	11	84996301	84996301	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr11:84996301A>G	ENST00000376104.2	-	4	460	c.149T>C	c.(148-150)cTt>cCt	p.L50P	DLG2_ENST00000543673.1_Missense_Mutation_p.L50P	NM_001142699.1	NP_001136171.1	Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0	L27 1. {ECO:0000255|PROSITE- ProRule:PRU00365}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				GCACGGAGCAAGAAGGGATGT	0.368																																																0													229	204	212					11																	84996301		1568	3581	5149	SO:0001583	missense	1740			U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	2901	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 58"	603583	"discs, large homolog 2, chapsyn-110 (Drosophila)"			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000376104.2:c.149T>C	11.37:g.84996301A>G	ENSP00000365272:p.Leu50Pro		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000376104.2	37	CCDS44690.1	.	.	.	.	.	.	.	.	.	.	A	6.469	0.454637	0.12283	.	.	ENSG00000150672	ENST00000376104;ENST00000543673;ENST00000546021	T;T	0.13307	2.6;2.6	5.88	4.76	0.60689	.	0.859826	0.09766	N	0.758589	T	0.05640	0.0148	N	0.02802	-0.49	0.21386	N	0.999704	B	0.09022	0.002	B	0.06405	0.002	T	0.42932	-0.9422	9	.	.	.	.	5.9412	0.19194	0.715:0.1404:0.1446:0.0	.	50	Q15700-2	.	P	50	ENSP00000365272:L50P;ENSP00000441994:L50P	.	L	-	2	0	DLG2	84673949	0.992000	0.36948	0.279000	0.24732	0.289000	0.27227	0.970000	0.29383	1.050000	0.40346	-0.263000	0.10527	CTT		0.368	DLG2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259245.3	NM_001364		G	84996301	A	G	84996301	3	3	710	1	0	0	0	0	1	0	0	0	4557	72	3	3	3083	3	DLG2	11	84996301	Missense_Mutation	SNP	A	TCGA-KL-8341-01A-11D-2310-10	11310155	84996301	50010215	73	39672											
APOA1	335	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	11	116707862	116707862	+	Missense_Mutation	SNP	G	G	A	rs371084971		TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr11:116707862G>A	ENST00000236850.4	-	3	420	c.55C>T	c.(55-57)Cgg>Tgg	p.R19W	AP006216.12_ENST00000444200.1_RNA|APOA1_ENST00000375320.1_Missense_Mutation_p.R19W|APOA1_ENST00000375329.2_Intron|APOA1_ENST00000375323.1_Missense_Mutation_p.R19W|APOA1_ENST00000359492.2_Missense_Mutation_p.R19W	NM_000039.1	NP_000030.1	P02647	APOA1_HUMAN	apolipoprotein A-I	19					adrenal gland development (GO:0030325)|blood coagulation (GO:0007596)|blood vessel endothelial cell migration (GO:0043534)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endothelial cell proliferation (GO:0001935)|G-protein coupled receptor signaling pathway (GO:0007186)|glucocorticoid metabolic process (GO:0008211)|high-density lipoprotein particle assembly (GO:0034380)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|integrin-mediated signaling pathway (GO:0007229)|lipid storage (GO:0019915)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein metabolic process (GO:0042157)|negative chemotaxis (GO:0050919)|negative regulation of cell adhesion molecule production (GO:0060354)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of lipase activity (GO:0060192)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of very-low-density lipoprotein particle remodeling (GO:0010903)|organ regeneration (GO:0031100)|peptidyl-methionine modification (GO:0018206)|peripheral nervous system axon regeneration (GO:0014012)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of hydrolase activity (GO:0051345)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transferase activity (GO:0051347)|protein oxidation (GO:0018158)|protein stabilization (GO:0050821)|regulation of Cdc42 protein signal transduction (GO:0032489)|regulation of intestinal cholesterol absorption (GO:0030300)|regulation of protein phosphorylation (GO:0001932)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to nutrient (GO:0007584)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|triglyceride homeostasis (GO:0070328)	blood microparticle (GO:0072562)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule lumen (GO:0034774)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)|vesicle (GO:0031982)	apolipoprotein A-I receptor binding (GO:0034191)|apolipoprotein receptor binding (GO:0034190)|beta-amyloid binding (GO:0001540)|chemorepellent activity (GO:0045499)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|enzyme binding (GO:0019899)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor binding (GO:0070653)|identical protein binding (GO:0042802)|lipase inhibitor activity (GO:0055102)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)			cervix(1)|endometrium(1)|lung(4)|prostate(1)|skin(2)	9	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.59e-05)|all cancers(92;0.000162)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		CAGAAATGCCGAGCCTGGCTC	0.632																																																0								G	TRP/ARG	0,4402		0,0,2201	49	56	54		55	1.3	1	11		54	1,8589	1.2+/-3.3	0,1,4294	no	missense	APOA1	NM_000039.1	101	0,1,6495	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	19/268	116707862	1,12991	2201	4295	6496	SO:0001583	missense	335			X02162	CCDS8378.1	11q23-q24	2014-09-17			ENSG00000118137	ENSG00000118137		"Apolipoproteins"	600	protein-coding gene	gene with protein product		107680					Standard	NM_000039		Approved		uc001ppv.1	P02647	OTTHUMG00000046112	ENST00000236850.4:c.55C>T	11.37:g.116707862G>A	ENSP00000236850:p.Arg19Trp		A8K866|Q6LDN9|Q6Q785|Q9UCS8|Q9UCT8	Missense_Mutation	SNP	ENST00000236850.4	37	CCDS8378.1	.	.	.	.	.	.	.	.	.	.	G	13.00	2.107700	0.37242	0.0	1.16E-4	ENSG00000118137	ENST00000375320;ENST00000359492;ENST00000375323;ENST00000236850	T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36	4.76	1.33	0.21861	.	0.381500	0.17497	N	0.172134	T	0.51312	0.1667	L	0.59912	1.85	0.27392	N	0.955111	P	0.36959	0.575	B	0.24974	0.057	T	0.43278	-0.9401	10	0.40728	T	0.16	-18.0312	5.5232	0.16943	0.0771:0.1121:0.574:0.2368	.	19	P02647	APOA1_HUMAN	W	19	ENSP00000364469:R19W;ENSP00000352471:R19W;ENSP00000364472:R19W;ENSP00000236850:R19W	ENSP00000236850:R19W	R	-	1	2	APOA1	116213072	0.969000	0.33509	0.999000	0.59377	0.972000	0.66771	1.680000	0.37607	0.416000	0.25844	0.462000	0.41574	CGG		0.632	APOA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106281.2	NM_000039		A	116707862	G	A	116707862	3	1	710	1	0	0	0	0	1	0	0	0	780	1057	37	1	756	1	APOA1	11	116707862	Missense_Mutation	SNP	G	TCGA-KL-8341-01A-11D-2310-10	31711561	116707862	18298654	74	39673											
KDM5A	5927	broad.mit.edu;mdanderson.org	37	12	416696	416696	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr12:416696T>C	ENST00000399788.2	-	23	4216	c.3854A>G	c.(3853-3855)gAa>gGa	p.E1285G	KDM5A_ENST00000382815.4_Missense_Mutation_p.E1285G	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1285					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						AGCCGCCTGTTCCACCATACG	0.483			T	NUP98	AML																																		Dom	yes		12	12p11	5927	"lysine (K)-specific demethylase 5A, JARID1A"		L	0													99	96	97					12																	416696		2000	4188	6188	SO:0001583	missense	5927				CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	9886	protein-coding gene	gene with protein product		180202	"retinoblastoma-binding protein 2", "Jumonji, AT rich interactive domain 1A (RBBP2-like)", "jumonji, AT rich interactive domain 1A"	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.3854A>G	12.37:g.416696T>C	ENSP00000382688:p.Glu1285Gly		A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	ENST00000399788.2	37	CCDS41736.1	.	.	.	.	.	.	.	.	.	.	T	17.67	3.446132	0.63178	.	.	ENSG00000073614	ENST00000399788;ENST00000382815	D;D	0.85773	-2.03;-1.84	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.80303	0.4598	L	0.35854	1.095	0.80722	D	1	B;B	0.19935	0.04;0.029	B;B	0.22880	0.019;0.042	T	0.74979	-0.3479	10	0.31617	T	0.26	-23.6818	16.1762	0.81855	0.0:0.0:0.0:1.0	.	1285;1285	P29375;P29375-2	KDM5A_HUMAN;.	G	1285	ENSP00000382688:E1285G;ENSP00000372265:E1285G	ENSP00000372265:E1285G	E	-	2	0	KDM5A	286957	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.997000	0.88414	2.283000	0.76528	0.477000	0.44152	GAA		0.483	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056		C	416696	T	C	416696	3	2	710	1	0	0	0	0	1	0	0	0	8135	1783	62	3	1242	3	KDM5A	12	416696	Missense_Mutation	SNP	T	TCGA-KL-8341-01A-11D-2310-10		416696	133435199	75	39674											
KRT2	3849	broad.mit.edu	37	12	53045623	53045624	+	In_Frame_Ins	INS	-	-	GCC	rs56850150		TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr12:53045623_53045624insGCC	ENST00000309680.3	-	1	324_325	c.303_304insGGC	c.(301-306)agcttt>agcGGCttt	p.101_102SF>SGF		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	101	Head.		S -> G (in dbSNP:rs2634041). {ECO:0000269|PubMed:1380918, ECO:0000269|PubMed:9804344}.		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)		ccacctccaaagctgctgccgc	0.614																																																0																																										SO:0001652	inframe_insertion	3849				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.303_304insGGC	12.37:g.53045623_53045624insGCC	ENSP00000310861:p.Ser101_Phe102insGly		Q4VAQ2	In_Frame_Ins	INS	ENST00000309680.3	37	CCDS8835.1																																																																																				0.614	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	NM_000423		GCC	53045624	-	GCC	53045623	7	5	710	1	0	1	1	0	0	0	0	0	8459	72	3	0	1651	0	KRT2	12	53045623	In_Frame_Ins	INS	-	TCGA-KL-8341-01A-11D-2310-10	52628927	53045623	80806272	76	39675											
SRGAP1	57522	hgsc.bcm.edu;ucsc.edu	37	12	64436722	64436722	+	Silent	SNP	T	T	A			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr12:64436722T>A	ENST00000355086.3	+	5	1166	c.642T>A	c.(640-642)tcT>tcA	p.S214S	SRGAP1_ENST00000357825.3_Silent_p.S214S|RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000543397.1_Silent_p.S174S	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	214	F-BAR domain.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		GGCGAAGCTCTGTAAAGAAAA	0.393																																																0													55	56	55					12																	64436722		2203	4300	6503	SO:0001819	synonymous_variant	57522			AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"Rho GTPase activating proteins"	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.642T>A	12.37:g.64436722T>A			Q9H8A3|Q9P2P2	Silent	SNP	ENST00000355086.3	37	CCDS8967.1																																																																																				0.393	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			A	64436722	T	A	64436722	2	1	710	1	0	0	0	0	0	0	0	1	15150	1567	55	5		5	SRGAP1	12	64436722	Silent	SNP	T	TCGA-KL-8341-01A-11D-2310-10	11391099	64436722	69415173	77	39676											
SLC35E3	55508	broad.mit.edu;mdanderson.org	37	12	69140526	69140526	+	Silent	SNP	G	G	A			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr12:69140526G>A	ENST00000398004.2	+	1	641	c.369G>A	c.(367-369)caG>caA	p.Q123Q		NM_018656.2	NP_061126.2	Q7Z769	S35E3_HUMAN	solute carrier family 35, member E3	123						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Breast(13;2.31e-06)|Renal(347;0.0684)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00372)			TCTGCTACCAGAAAACCTTCT	0.567																																																0													108	113	112					12																	69140526		1948	4151	6099	SO:0001819	synonymous_variant	55508			AF148713, AY358943	CCDS41808.1	12q15	2014-09-04			ENSG00000175782	ENSG00000175782		"Solute carriers"	20864	protein-coding gene	gene with protein product						12975309	Standard	XM_005269006		Approved	BLOV1	uc001suh.3	Q7Z769	OTTHUMG00000169282	ENST00000398004.2:c.369G>A	12.37:g.69140526G>A			A8K0T0|Q0P5Y5|Q9P0V1	Silent	SNP	ENST00000398004.2	37	CCDS41808.1																																																																																				0.567	SLC35E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403241.1	NM_018656		A	69140526	G	A	69140526	2	1	710	1	0	0	0	0	0	0	0	1	14592	933	33	2		2	SLC35E3	12	69140526	Silent	SNP	G	TCGA-KL-8341-01A-11D-2310-10	4703804	69140526	64711369	78	39677											
CEP290	80184	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	88444148	88444148	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr12:88444148C>T	ENST00000552810.1	-	53	7535	c.7192G>A	c.(7192-7194)Gaa>Aaa	p.E2398K	RNA5SP364_ENST00000516938.1_RNA|CEP290_ENST00000397838.3_Missense_Mutation_p.E1458K|CEP290_ENST00000309041.7_Missense_Mutation_p.E2400K|CEP290_ENST00000547691.2_Missense_Mutation_p.E1458K	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	2398					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TGCTGCTTTTCTAGATCTGAC	0.299																																																0													90	79	82					12																	88444148		1808	4073	5881	SO:0001583	missense	80184			AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"Joubert syndrome 5", "nephrocystin-6", "cancer/testis antigen 87", "POC3 centriolar protein homolog (Chlamydomonas)", "Meckel syndrome, type 4"	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.7192G>A	12.37:g.88444148C>T	ENSP00000448012:p.Glu2398Lys		Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	ENST00000552810.1	37	CCDS55858.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.435975	0.83885	.	.	ENSG00000198707	ENST00000547691;ENST00000552810;ENST00000309041;ENST00000397838	T;T;T;T	0.75704	-0.13;-0.96;-0.95;-0.13	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.77644	0.4161	M	0.73598	2.24	0.39180	D	0.962756	P	0.49862	0.929	P	0.46419	0.516	T	0.80576	-0.1321	10	0.40728	T	0.16	.	15.0296	0.71696	0.0:1.0:0.0:0.0	.	2398	O15078	CE290_HUMAN	K	1458;2398;2400;1458	ENSP00000446905:E1458K;ENSP00000448012:E2398K;ENSP00000308021:E2400K;ENSP00000380938:E1458K	ENSP00000308021:E2400K	E	-	1	0	CEP290	86968279	0.998000	0.40836	0.993000	0.49108	0.796000	0.44982	5.011000	0.64011	2.346000	0.79739	0.655000	0.94253	GAA		0.299	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114		T	88444148	C	T	88444148	3	4	710	1	0	0	0	0	1	0	0	0	3255	922	32	2	255	2	CEP290	12	88444148	Missense_Mutation	SNP	C	TCGA-KL-8341-01A-11D-2310-10	19303622	88444148	45407747	79	39678											
ATP12A	479	broad.mit.edu;mdanderson.org;bcgsc.ca	37	13	25255781	25255781	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr13:25255781T>C	ENST00000381946.3	+	2	258	c.91T>C	c.(91-93)Tat>Cat	p.Y31H	ATP12A_ENST00000218548.6_Missense_Mutation_p.Y31H			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	31					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)		CAAGGAGAAGTATAGGGGTCT	0.473																																					Pancreas(156;1582 1935 18898 22665 26498)											0													94	92	93					13																	25255781		2203	4300	6503	SO:0001583	missense	479			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.91T>C	13.37:g.25255781T>C	ENSP00000371372:p.Tyr31His		Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	37	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	T	4.130	0.022384	0.08006	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.92911	-3.13;-3.13	5.32	-2.04	0.07343	.	17.266700	0.00166	N	0.000000	T	0.79621	0.4477	N	0.08118	0	0.23371	N	0.997817	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.69316	-0.5177	10	0.18710	T	0.47	.	0.768	0.01018	0.2498:0.161:0.1322:0.457	.	31;31	P54707-2;P54707	.;AT12A_HUMAN	H	31	ENSP00000218548:Y31H;ENSP00000371372:Y31H	ENSP00000218548:Y31H	Y	+	1	0	ATP12A	24153781	0.921000	0.31238	0.386000	0.26170	0.231000	0.25187	0.416000	0.21198	-0.091000	0.12440	-0.336000	0.08194	TAT		0.473	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		C	25255781	T	C	25255781	3	2	710	1	0	0	0	0	1	0	0	0	1122	1638	57	3	97	3	ATP12A	13	25255781	Missense_Mutation	SNP	T	TCGA-KL-8341-01A-11D-2310-10		25255781	89914097	80	39679											
FNDC3A	22862	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	13	49771038	49771038	+	Missense_Mutation	SNP	A	A	T	rs368353457		TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr13:49771038A>T	ENST00000492622.2	+	20	2557	c.2252A>T	c.(2251-2253)gAt>gTt	p.D751V	FNDC3A_ENST00000398316.3_Missense_Mutation_p.D695V|FNDC3A_ENST00000541916.1_Missense_Mutation_p.D751V	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	751	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		GAAAAATGTGATATTACTACA	0.388																																																0													98	93	95					13																	49771038		2203	4300	6503	SO:0001583	missense	22862			AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"Fibronectin type III domain containing"	20296	protein-coding gene	gene with protein product		615794	"fibronectin type III domain containing 3"	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.2252A>T	13.37:g.49771038A>T	ENSP00000417257:p.Asp751Val		B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Missense_Mutation	SNP	ENST00000492622.2	37	CCDS41886.1	.	.	.	.	.	.	.	.	.	.	A	13.21	2.168264	0.38315	.	.	ENSG00000102531	ENST00000492622;ENST00000337156;ENST00000541916;ENST00000398316	T;T;T	0.52057	0.68;0.68;0.68	5.26	5.26	0.73747	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.260892	0.31772	N	0.007085	T	0.30262	0.0759	N	0.12443	0.215	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.11329	0.006;0.001	T	0.09640	-1.0665	10	0.20519	T	0.43	-8.0455	14.3424	0.66636	1.0:0.0:0.0:0.0	.	695;751	Q9Y2H6-2;Q9Y2H6	.;FND3A_HUMAN	V	751;687;751;695	ENSP00000417257:D751V;ENSP00000441831:D751V;ENSP00000381362:D695V	ENSP00000338579:D687V	D	+	2	0	FNDC3A	48669039	1.000000	0.71417	0.989000	0.46669	0.866000	0.49608	8.730000	0.91510	1.984000	0.57885	0.379000	0.24179	GAT		0.388	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2	NM_014923		T	49771038	A	T	49771038	3	4	710	1	0	0	0	0	1	0	0	0	5971	333	12	5	2337	5	FNDC3A	13	49771038	Missense_Mutation	SNP	A	TCGA-KL-8341-01A-11D-2310-10	24515257	49771038	65398840	81	39680											
OR4M1	441670	broad.mit.edu;mdanderson.org	37	14	20248894	20248894	+	Missense_Mutation	SNP	G	G	A	rs373032779		TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr14:20248894G>A	ENST00000315957.4	+	1	494	c.413G>A	c.(412-414)cGa>cAa	p.R138Q		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	138						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)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATCATGAATCGACGTCTCTGC	0.522																																																0									GLN/ARG	0,4406		0,0,2203	262	271	268		413	0.2	0.8	14		268	1,8599		0,1,4299	no	missense	OR4M1	NM_001005500.1	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	138/314	20248894	1,13005	2203	4300	6503	SO:0001583	missense	441670				CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"GPCR / Class A : Olfactory receptors"	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.413G>A	14.37:g.20248894G>A	ENSP00000319654:p.Arg138Gln		B9EH18|Q6IFA3	Missense_Mutation	SNP	ENST00000315957.4	37	CCDS32021.1	.	.	.	.	.	.	.	.	.	.	.	4.713	0.132514	0.09032	0.0	1.16E-4	ENSG00000176299	ENST00000315957	T	0.01347	4.99	4.33	0.153	0.14897	GPCR, rhodopsin-like superfamily (1);	0.433156	0.17204	N	0.183018	T	0.00967	0.0032	N	0.26042	0.785	0.09310	N	1	B	0.30709	0.291	B	0.15484	0.013	T	0.50591	-0.8810	10	0.25106	T	0.35	-0.216	6.2969	0.21091	0.1759:0.2841:0.54:0.0	.	138	Q8NGD0	OR4M1_HUMAN	Q	138	ENSP00000319654:R138Q	ENSP00000319654:R138Q	R	+	2	0	OR4M1	19318734	0.000000	0.05858	0.766000	0.31476	0.547000	0.35210	-0.556000	0.05992	0.218000	0.20820	-1.720000	0.00707	CGA		0.522	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1			A	20248894	G	A	20248894	3	1	710	1	0	0	0	0	1	0	0	0	11077	1058	37	1	415	1	OR4M1	14	20248894	Missense_Mutation	SNP	G	TCGA-KL-8341-01A-11D-2310-10		20248894	87100646	82	39681											
OR4K5	79317	mdanderson.org	37	14	20389305	20389305	+	Silent	SNP	T	T	C			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr14:20389305T>C	ENST00000315915.4	+	1	565	c.540T>C	c.(538-540)gaT>gaC	p.D180D		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	180						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(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTTTTTGTGATCTTCCTCGAG	0.423																																																0													249	263	258					14																	20389305		2203	4300	6503	SO:0001819	synonymous_variant	79317			BK004355	CCDS32024.1	14q11.22	2012-08-09				ENSG00000176281		"GPCR / Class A : Olfactory receptors"	14745	protein-coding gene	gene with protein product						14983052	Standard	NM_001005483		Approved		uc010tkw.2	Q8NGD3		ENST00000315915.4:c.540T>C	14.37:g.20389305T>C			Q6IFA7	Silent	SNP	ENST00000315915.4	37	CCDS32024.1																																																																																				0.423	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409867.1	NM_001005483		C	20389305	T	C	20389305	2	2	710	1	0	0	0	0	0	0	0	1	11075	1432	50	3		3	OR4K5	14	20389305	Silent	SNP	T	TCGA-KL-8341-01A-11D-2310-10	140411	20389305	86960235	83	39682											
OR4K17	390436	broad.mit.edu	37	14	20586424	20586424	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr14:20586424delT	ENST00000315543.4	+	1	859	c.859delT	c.(859-861)tttfs	p.F287fs		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	259						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(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)		CCCATGCATCTTTATCTACAT	0.423																																																0													116	105	108					14																	20586424		2203	4300	6503	SO:0001589	frameshift_variant	390436				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.859delT	14.37:g.20586424delT	ENSP00000319197:p.Phe287fs		Q6IF12	Frame_Shift_Del	DEL	ENST00000315543.4	37	CCDS32030.1																																																																																				0.423	OR4K17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410346.1			-	20586424	T	-	20586424	7	5	710	1	0	1	0	1	0	0	0	0	11073	1609	56	0	861	0	OR4K17	14	20586424	Frame_Shift_Del	DEL	T	TCGA-KL-8341-01A-11D-2310-10	197119	20586424	86763116	84	39683	330	4									
OR4K17	390436	bcgsc.ca	37	14	20586425	20586425	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr14:20586425delT	ENST00000315543.4	+	1	860	c.860delT	c.(859-861)tttfs	p.F287fs		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	259						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(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)		CCATGCATCTTTATCTACATT	0.423																																																0													114	104	107					14																	20586425		2203	4300	6503	SO:0001589	frameshift_variant	390436				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.860delT	14.37:g.20586425delT	ENSP00000319197:p.Phe287fs		Q6IF12	Frame_Shift_Del	DEL	ENST00000315543.4	37	CCDS32030.1																																																																																				0.423	OR4K17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410346.1			-	20586425	T	-	20586425	7	5	710	1	0	1	0	1	0	0	0	0	11073	1841	64	0	862	0	OR4K17	14	20586425	Frame_Shift_Del	DEL	T	TCGA-KL-8341-01A-11D-2310-10	1	20586425	86763115	85	39684	330	4									
OR4K17	390436	broad.mit.edu	37	14	20586433	20586434	+	Frame_Shift_Ins	INS	-	-	T			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr14:20586433_20586434insT	ENST00000315543.4	+	1	868_869	c.868_869insT	c.(868-870)attfs	p.I290fs		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	262						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(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)		CTTTATCTACATTTGGCCCTTC	0.421																																																0																																										SO:0001589	frameshift_variant	390436				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.871dupT	14.37:g.20586436_20586436dupT	ENSP00000319197:p.Ile290fs		Q6IF12	Frame_Shift_Ins	INS	ENST00000315543.4	37	CCDS32030.1																																																																																				0.421	OR4K17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410346.1			T	20586434	-	T	20586433	7	5	710	1	0	1	1	0	0	0	0	0	11073	217	8	0	870	0	OR4K17	14	20586433	Frame_Shift_Ins	INS	-	TCGA-KL-8341-01A-11D-2310-10	8	20586433	86763107	86	39685	330	4									
OR4K17	390436	bcgsc.ca	37	14	20586434	20586435	+	Frame_Shift_Ins	INS	-	-	T			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr14:20586434_20586435insT	ENST00000315543.4	+	1	869_870	c.869_870insT	c.(868-873)atttggfs	p.W291fs		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	263						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(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)		TTTATCTACATTTGGCCCTTCG	0.426																																																0																																										SO:0001589	frameshift_variant	390436				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.871dupT	14.37:g.20586436_20586436dupT	ENSP00000319197:p.Trp291fs		Q6IF12	Frame_Shift_Ins	INS	ENST00000315543.4	37	CCDS32030.1																																																																																				0.426	OR4K17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410346.1			T	20586435	-	T	20586434	7	5	710	1	0	1	1	0	0	0	0	0	11073	1493	52	0	871	0	OR4K17	14	20586434	Frame_Shift_Ins	INS	-	TCGA-KL-8341-01A-11D-2310-10	1	20586434	86763106	87	39686	330	4									
MYH7	4625	mdanderson.org	37	14	23885477	23885477	+	Silent	SNP	C	C	T			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr14:23885477C>T	ENST00000355349.3	-	34	4851	c.4689G>A	c.(4687-4689)ctG>ctA	p.L1563L	CTD-2201G16.1_ENST00000557368.1_RNA|MIR208B_ENST00000401172.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1563					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)		GGTTGAACTCCAGCTGGGCCC	0.647																																																0													124	123	123					14																	23885477		2203	4300	6503	SO:0001819	synonymous_variant	4625			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4689G>A	14.37:g.23885477C>T			A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	37	CCDS9601.1																																																																																				0.647	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		T	23885477	C	T	23885477	2	4	710	1	0	0	0	0	0	0	0	1	10041	581	21	2		2	MYH7	14	23885477	Silent	SNP	C	TCGA-KL-8341-01A-11D-2310-10	3299043	23885477	83464063	88	39687											
MYH7	4625	mdanderson.org	37	14	23886718	23886718	+	Silent	SNP	G	G	A	rs182311329	byFrequency	TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr14:23886718G>A	ENST00000355349.3	-	31	4509	c.4347C>T	c.(4345-4347)ttC>ttT	p.F1449F	CTD-2201G16.1_ENST00000557368.1_RNA|MIR208B_ENST00000401172.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1449					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)		CCACCTTGTCGAAGTTCCTCT	0.622													G|||	2	0.000399361	0.0008	0.0	5008	,	,		16915	0.001		0.0	False		,,,				2504	0.0															0																																										SO:0001819	synonymous_variant	4625			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4347C>T	14.37:g.23886718G>A			A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	37	CCDS9601.1																																																																																				0.622	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		A	23886718	G	A	23886718	2	1	710	1	0	0	0	0	0	0	0	1	10041	1049	37	1		1	MYH7	14	23886718	Silent	SNP	G	TCGA-KL-8341-01A-11D-2310-10	1241	23886718	83462822	89	39688	331	2									
MYH7	4625	mdanderson.org	37	14	23886724	23886724	+	Silent	SNP	C	C	T			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr14:23886724C>T	ENST00000355349.3	-	31	4503	c.4341G>A	c.(4339-4341)agG>agA	p.R1447R	CTD-2201G16.1_ENST00000557368.1_RNA|MIR208B_ENST00000401172.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1447					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)		TGTCGAAGTTCCTCTGCTTCT	0.612																																																0													99	94	96					14																	23886724		2203	4300	6503	SO:0001819	synonymous_variant	4625			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4341G>A	14.37:g.23886724C>T			A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	37	CCDS9601.1																																																																																				0.612	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		T	23886724	C	T	23886724	2	4	710	1	0	0	0	0	0	0	0	1	10041	854	30	2		2	MYH7	14	23886724	Silent	SNP	C	TCGA-KL-8341-01A-11D-2310-10	6	23886724	83462816	90	39689	331	2									
AHNAK2	113146	mdanderson.org	37	14	105408107	105408107	+	Missense_Mutation	SNP	G	G	T	rs200549975		TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr14:105408107G>T	ENST00000333244.5	-	7	13800	c.13681C>A	c.(13681-13683)Ctc>Atc	p.L4561I	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4561						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)			GGGCCCTTGAGGTCCACTTTG	0.617																																																0													153	161	159					14																	105408107		1903	4109	6012	SO:0001583	missense	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.13681C>A	14.37:g.105408107G>T	ENSP00000353114:p.Leu4561Ile		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	G	3.913	-0.019674	0.07634	.	.	ENSG00000185567	ENST00000333244	T	0.00628	6.11	3.09	-3.06	0.05379	.	2.229260	0.03962	U	0.290278	T	0.00552	0.0018	L	0.31120	0.905	0.09310	N	1	P	0.40032	0.699	B	0.40009	0.316	T	0.45644	-0.9247	10	0.13470	T	0.59	.	1.4002	0.02269	0.1996:0.1066:0.2206:0.4731	.	4561	Q8IVF2	AHNK2_HUMAN	I	4561	ENSP00000353114:L4561I	ENSP00000353114:L4561I	L	-	1	0	AHNAK2	104479152	0.000000	0.05858	0.010000	0.14722	0.232000	0.25224	-2.180000	0.01258	-0.335000	0.08451	0.306000	0.20318	CTC		0.617	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		T	105408107	G	T	105408107	3	4	710	1	0	0	0	0	1	0	0	0	415	1000	35	4	3710	4	AHNAK2	14	105408107	Missense_Mutation	SNP	G	TCGA-KL-8341-01A-11D-2310-10	81521383	105408107	1941433	91	39690			2	79		9	6	7642	N	T_G_C_A	2.093013e-10
AHNAK2	113146	mdanderson.org	37	14	105408140	105408140	+	Missense_Mutation	SNP	C	C	G	rs201663085		TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr14:105408140C>G	ENST00000333244.5	-	7	13767	c.13648G>C	c.(13648-13650)Gag>Cag	p.E4550Q	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4550						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)			CTGGGCATCTCCACCTTGGGC	0.617																																																0																																										SO:0001583	missense	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.13648G>C	14.37:g.105408140C>G	ENSP00000353114:p.Glu4550Gln		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.854353	0.00558	.	.	ENSG00000185567	ENST00000333244	T	0.00682	5.86	3.28	0.23	0.15372	.	0.471713	0.14436	N	0.319717	T	0.00356	0.0011	N	0.00855	-1.145	0.09310	N	1	B	0.24768	0.111	B	0.24541	0.054	T	0.43114	-0.9411	10	0.20046	T	0.44	.	7.373	0.26813	0.1694:0.4763:0.3543:0.0	.	4550	Q8IVF2	AHNK2_HUMAN	Q	4550	ENSP00000353114:E4550Q	ENSP00000353114:E4550Q	E	-	1	0	AHNAK2	104479185	0.090000	0.21635	0.084000	0.20598	0.107000	0.19398	-0.347000	0.07750	-0.126000	0.11682	-2.576000	0.00170	GAG		0.617	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		G	105408140	C	G	105408140	3	3	710	1	0	0	0	0	1	0	0	0	415	864	30	4	3743	4	AHNAK2	14	105408140	Missense_Mutation	SNP	C	TCGA-KL-8341-01A-11D-2310-10	33	105408140	1941400	92	39691			2	79		9	6	7642	N	T_G_C_A	2.093013e-10
AHNAK2	113146	mdanderson.org	37	14	105415160	105415160	+	Missense_Mutation	SNP	C	C	G	rs201874096	byFrequency	TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr14:105415160C>G	ENST00000333244.5	-	7	6747	c.6628G>C	c.(6628-6630)Gtg>Ctg	p.V2210L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2210						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)			TGGACCTTCACGTCGGCGGAA	0.637													.|||	169	0.033746	0.0787	0.0101	5008	,	,		18042	0.0347		0.001	False		,,,				2504	0.0225															0													112	108	109					14																	105415160		1938	4141	6079	SO:0001583	missense	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.6628G>C	14.37:g.105415160C>G	ENSP00000353114:p.Val2210Leu		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	N	0.153	-1.089039	0.01873	.	.	ENSG00000185567	ENST00000333244	T	0.01119	5.31	4.26	-0.475	0.12104	.	.	.	.	.	T	0.00666	0.0022	N	0.01454	-0.855	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.52041	-0.8628	9	0.05351	T	0.99	.	20.4837	0.99199	0.0:0.8803:0.1197:0.0	.	2210	Q8IVF2	AHNK2_HUMAN	L	2210	ENSP00000353114:V2210L	ENSP00000353114:V2210L	V	-	1	0	AHNAK2	104486205	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-1.060000	0.03475	-1.481000	0.01863	-0.332000	0.08345	GTG		0.637	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		G	105415160	C	G	105415160	3	3	710	1	0	0	0	0	1	0	0	0	415	536	19	4	10763	4	AHNAK2	14	105415160	Missense_Mutation	SNP	C	TCGA-KL-8341-01A-11D-2310-10	7020	105415160	1934380	93	39692	332	3	2	79		9	6	7642	N	T_G_C_A	2.093013e-10
AHNAK2	113146	mdanderson.org	37	14	105415166	105415166	+	Missense_Mutation	SNP	C	C	T	rs201667039		TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr14:105415166C>T	ENST00000333244.5	-	7	6741	c.6622G>A	c.(6622-6624)Gcc>Acc	p.A2208T	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2208						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)			TTCACGTCGGCGGAAAGGGGC	0.632																																																0													112	105	107					14																	105415166		1935	4135	6070	SO:0001583	missense	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.6622G>A	14.37:g.105415166C>T	ENSP00000353114:p.Ala2208Thr		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	9	0.004120879120879121	7	0.014227642276422764	0	0.0	2	0.0034965034965034965	0	0.0	N	8.172	0.791836	0.16258	.	.	ENSG00000185567	ENST00000333244	T	0.00912	5.55	4.26	-2.56	0.06268	.	.	.	.	.	T	0.00580	0.0019	L	0.45744	1.44	0.09310	N	1	P	0.45428	0.858	B	0.40009	0.316	T	0.40289	-0.9571	9	0.13470	T	0.59	.	1.7149	0.02899	0.1147:0.283:0.2021:0.4002	.	2208	Q8IVF2	AHNK2_HUMAN	T	2208	ENSP00000353114:A2208T	ENSP00000353114:A2208T	A	-	1	0	AHNAK2	104486211	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.254000	0.02874	-1.113000	0.02981	-1.166000	0.01754	GCC		0.632	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		T	105415166	C	T	105415166	3	4	710	1	0	0	0	0	1	0	0	0	415	768	27	1	10769	1	AHNAK2	14	105415166	Missense_Mutation	SNP	C	TCGA-KL-8341-01A-11D-2310-10	6	105415166	1934374	94	39693	332	3	2	79		9	6	7642	N	T_G_C_A	2.093013e-10
AHNAK2	113146	mdanderson.org	37	14	105415171	105415171	+	Missense_Mutation	SNP	A	A	G	rs201552064		TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr14:105415171A>G	ENST00000333244.5	-	7	6736	c.6617T>C	c.(6616-6618)cTt>cCt	p.L2206P	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2206						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)			GTCGGCGGAAAGGGGCTGAAT	0.642																																																0													116	106	109					14																	105415171		1942	4131	6073	SO:0001583	missense	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.6617T>C	14.37:g.105415171A>G	ENSP00000353114:p.Leu2206Pro		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	N	8.966	0.971743	0.18736	.	.	ENSG00000185567	ENST00000333244	T	0.00448	7.38	4.26	4.26	0.50523	.	.	.	.	.	T	0.00073	0.0002	N	0.00012	-2.95	0.34200	D	0.67309	B	0.02656	0.0	B	0.06405	0.002	T	0.02161	-1.1203	9	0.02654	T	1	.	6.4926	0.22123	0.0959:0.0:0.7263:0.1777	.	2206	Q8IVF2	AHNK2_HUMAN	P	2206	ENSP00000353114:L2206P	ENSP00000353114:L2206P	L	-	2	0	AHNAK2	104486216	.	.	0.089000	0.20774	0.013000	0.08279	.	.	0.803000	0.34113	-0.330000	0.08379	CTT		0.642	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		G	105415171	A	G	105415171	3	3	710	1	0	0	0	0	1	0	0	0	415	72	3	3	10774	3	AHNAK2	14	105415171	Missense_Mutation	SNP	A	TCGA-KL-8341-01A-11D-2310-10	5	105415171	1934369	95	39694	332	3	2	79		9	6	7642	N	T_G_C_A	2.093013e-10
AHNAK2	113146	mdanderson.org	37	14	105415196	105415196	+	Missense_Mutation	SNP	T	T	C	rs200598682		TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr14:105415196T>C	ENST00000333244.5	-	7	6711	c.6592A>G	c.(6592-6594)Acc>Gcc	p.T2198A	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2198						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)			AGGTCAGTGGTCTTGAGGTCC	0.642																																																0													123	104	110					14																	105415196		1952	4126	6078	SO:0001583	missense	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.6592A>G	14.37:g.105415196T>C	ENSP00000353114:p.Thr2198Ala		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	N	9.313	1.056023	0.19907	.	.	ENSG00000185567	ENST00000333244	T	0.00711	5.8	4.41	-1.41	0.08941	.	.	.	.	.	T	0.00496	0.0016	N	0.12920	0.275	0.09310	N	1	B	0.11235	0.004	B	0.16722	0.016	T	0.43861	-0.9365	9	0.07030	T	0.85	.	4.5244	0.11975	0.0:0.3735:0.4008:0.2257	.	2198	Q8IVF2	AHNK2_HUMAN	A	2198	ENSP00000353114:T2198A	ENSP00000353114:T2198A	T	-	1	0	AHNAK2	104486241	0.000000	0.05858	0.000000	0.03702	0.096000	0.18686	-0.840000	0.04363	-0.183000	0.10585	0.397000	0.26171	ACC		0.642	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		C	105415196	T	C	105415196	3	2	710	1	0	0	0	0	1	0	0	0	415	1667	58	3	10799	3	AHNAK2	14	105415196	Missense_Mutation	SNP	T	TCGA-KL-8341-01A-11D-2310-10	25	105415196	1934344	96	39695	333	2	2	79		9	6	7642	N	T_G_C_A	2.093013e-10
AHNAK2	113146	mdanderson.org	37	14	105415200	105415200	+	Silent	SNP	G	G	C	rs10145566	byFrequency	TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr14:105415200G>C	ENST00000333244.5	-	7	6707	c.6588C>G	c.(6586-6588)ctC>ctG	p.L2196L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2196						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)			CAGTGGTCTTGAGGTCCCCCT	0.637													.|||	1452	0.289936	0.1483	0.3213	5008	,	,		17263	0.1359		0.4891	False		,,,				2504	0.4131															0								G		553,3361		51,451,1455	123	103	110		6588	0.3	0	14	dbSNP_119	110	3961,4283		1006,1949,1167	no	coding-synonymous	AHNAK2	NM_138420.2		1057,2400,2622	CC,CG,GG		48.0471,14.1288,37.1278		2196/5796	105415200	4514,7644	1957	4122	6079	SO:0001819	synonymous_variant	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.6588C>G	14.37:g.105415200G>C			Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																				0.637	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		C	105415200	G	C	105415200	2	2	710	1	0	0	0	0	0	0	0	1	415	1277	45	4		4	AHNAK2	14	105415200	Silent	SNP	G	TCGA-KL-8341-01A-11D-2310-10	4	105415200	1934340	97	39696	333	2	2	79		9	6	7642	N	T_G_C_A	2.093013e-10
AHNAK2	113146	mdanderson.org	37	14	105415737	105415737	+	Silent	SNP	C	C	T	rs541403583	byFrequency	TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr14:105415737C>T	ENST00000333244.5	-	7	6170	c.6051G>A	c.(6049-6051)aaG>aaA	p.K2017K	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2017						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)			CGGCCTCCACCTTGGGTGCAG	0.607													.|||	37	0.00738818	0.0121	0.0072	5008	,	,		16034	0.003		0.001	False		,,,				2504	0.0123															0													133	114	120					14																	105415737		1926	4060	5986	SO:0001819	synonymous_variant	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.6051G>A	14.37:g.105415737C>T			Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																				0.607	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		T	105415737	C	T	105415737	2	4	710	1	0	0	0	0	0	0	0	1	415	680	24	2		2	AHNAK2	14	105415737	Silent	SNP	C	TCGA-KL-8341-01A-11D-2310-10	537	105415737	1933803	98	39697			2	79		9	6	7642	N	T_G_C_A	2.093013e-10
AHNAK2	113146	mdanderson.org	37	14	105415748	105415748	+	Missense_Mutation	SNP	G	G	A	rs118171013	byFrequency	TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr14:105415748G>A	ENST00000333244.5	-	7	6159	c.6040C>T	c.(6040-6042)Cct>Tct	p.P2014S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2014						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)			TTGGGTGCAGGCACATCCACC	0.597													.|||	1504	0.300319	0.1377	0.3631	5008	,	,		15992	0.0903		0.5447	False		,,,				2504	0.4407															0								A	SER/PRO	806,3058		129,548,1255	138	119	125		6040	-7.4	0	14	dbSNP_132	125	4479,3641		1443,1593,1024	no	missense	AHNAK2	NM_138420.2	74	1572,2141,2279	AA,AG,GG		44.8399,20.8592,44.1005	benign	2014/5796	105415748	5285,6699	1932	4060	5992	SO:0001583	missense	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.6040C>T	14.37:g.105415748G>A	ENSP00000353114:p.Pro2014Ser		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	657	0.3008241758241758	79	0.16056910569105692	137	0.3784530386740331	35	0.06118881118881119	406	0.5356200527704486	-	0.114	-1.134216	0.01742	0.208592	0.551601	ENSG00000185567	ENST00000333244	T	0.04015	3.73	3.72	-7.44	0.01379	.	.	.	.	.	T	0.00012	0.0000	N	0.00019	-2.785	0.80722	P	0.0	B	0.09022	0.002	B	0.01281	0.0	T	0.49818	-0.8899	8	0.06891	T	0.86	-0.9503	1.4552	0.02383	0.2249:0.2846:0.3034:0.1871	.	2014	Q8IVF2	AHNK2_HUMAN	S	2014	ENSP00000353114:P2014S	ENSP00000353114:P2014S	P	-	1	0	AHNAK2	104486793	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-3.592000	0.00421	-1.485000	0.01854	-2.164000	0.00325	CCT		0.597	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		A	105415748	G	A	105415748	3	1	710	1	0	0	0	0	1	0	0	0	415	1203	42	2	11351	2	AHNAK2	14	105415748	Missense_Mutation	SNP	G	TCGA-KL-8341-01A-11D-2310-10	11	105415748	1933792	99	39698			2	79		9	6	7642	N	T_G_C_A	2.093013e-10
CAPN3	825	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	15	42684852	42684852	+	Missense_Mutation	SNP	C	C	A			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr15:42684852C>A	ENST00000397163.3	+	7	1180	c.961C>A	c.(961-963)Cag>Aag	p.Q321K	CAPN3_ENST00000357568.3_Missense_Mutation_p.Q321K|CAPN3_ENST00000356316.3_Missense_Mutation_p.Q234K|CAPN3_ENST00000349748.3_Missense_Mutation_p.Q273K|CAPN3_ENST00000318023.7_Missense_Mutation_p.Q321K|RP11-164J13.1_ENST00000495723.1_RNA	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	321	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		CATTCCGGTTCAGTATGAGAC	0.547																																																0													83	71	75					15																	42684852		2203	4299	6502	SO:0001583	missense	825			X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"EF-hand domain containing"	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.961C>A	15.37:g.42684852C>A	ENSP00000380349:p.Gln321Lys		A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Missense_Mutation	SNP	ENST00000397163.3	37	CCDS45245.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.878045	0.51801	.	.	ENSG00000092529	ENST00000356316;ENST00000397163;ENST00000357568;ENST00000349748;ENST00000318023	D;D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25;-2.25	5.37	5.37	0.77165	Peptidase C2, calpain, catalytic domain (3);	0.257775	0.33253	U	0.005112	T	0.80042	0.4551	N	0.05351	-0.065	0.80722	D	1	B;B;B;B;B;B	0.23990	0.018;0.095;0.009;0.077;0.095;0.021	B;B;B;B;B;B	0.33121	0.065;0.158;0.038;0.062;0.102;0.103	T	0.76780	-0.2833	10	0.51188	T	0.08	.	18.4966	0.90867	0.0:1.0:0.0:0.0	.	186;234;273;321;321;234	C6EVS4;C6EVS3;P20807-2;P20807-3;P20807;Q762C8	.;.;.;.;CAN3_HUMAN;.	K	234;321;321;273;321	ENSP00000348667:Q234K;ENSP00000380349:Q321K;ENSP00000350181:Q321K;ENSP00000183936:Q273K;ENSP00000326281:Q321K	ENSP00000326281:Q321K	Q	+	1	0	CAPN3	40472144	1.000000	0.71417	0.970000	0.41538	0.260000	0.26232	5.608000	0.67654	2.683000	0.91414	0.655000	0.94253	CAG		0.547	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1			A	42684852	C	A	42684852	3	1	710	1	0	0	0	0	1	0	0	0	2630	827	29	4	1039	4	CAPN3	15	42684852	Missense_Mutation	SNP	C	TCGA-KL-8341-01A-11D-2310-10		42684852	59846540	100	39699											
ZFP106	64397	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	15	42742931	42742931	+	Silent	SNP	C	C	T			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr15:42742931C>T	ENST00000263805.4	-	2	1796	c.1470G>A	c.(1468-1470)tcG>tcA	p.S490S	ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron	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	490					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)										TGGGCTTGTTCGAGGGATTTG	0.388																																																0													229	224	225					15																	42742931		2203	4299	6502	SO:0001819	synonymous_variant	64397			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.1470G>A	15.37:g.42742931C>T			B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Silent	SNP	ENST00000263805.4	37	CCDS32208.1																																																																																				0.388	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		T	42742931	C	T	42742931	2	4	710	1	0	0	0	0	0	0	0	1	17642	871	31	1		1	ZFP106	15	42742931	Silent	SNP	C	TCGA-KL-8341-01A-11D-2310-10	58079	42742931	59788461	101	39700											
SLC12A1	6557	broad.mit.edu;mdanderson.org	37	15	48518686	48518686	+	Silent	SNP	C	C	G			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr15:48518686C>G	ENST00000558405.1	+	4	656	c.642C>G	c.(640-642)ctC>ctG	p.L214L	SLC12A1_ENST00000380993.3_Silent_p.L214L|SLC12A1_ENST00000396577.3_Intron|SLC12A1_ENST00000330289.6_Silent_p.L214L|SLC12A1_ENST00000559723.1_Intron			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	214					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)	TTGGAGTTCTCATAATTCTTC	0.373																																																0													122	118	120					15																	48518686		1854	4097	5951	SO:0001819	synonymous_variant	6557				CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"Solute carriers"	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.642C>G	15.37:g.48518686C>G			A8JYA2|E9PDW4	Silent	SNP	ENST00000558405.1	37	CCDS10129.2																																																																																				0.373	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1			G	48518686	C	G	48518686	2	3	710	1	0	0	0	0	0	0	0	1	14388	813	29	4		4	SLC12A1	15	48518686	Silent	SNP	C	TCGA-KL-8341-01A-11D-2310-10	5775755	48518686	54012706	102	39701											
DTWD1	56986	hgsc.bcm.edu	37	15	49926993	49926994	+	Splice_Site	INS	-	-	A	rs111446752	byFrequency	TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr15:49926993_49926994insA	ENST00000251250.6	+	5	874		c.e5+2		DTWD1_ENST00000415425.1_Splice_Site|DTWD1_ENST00000403028.3_Splice_Site|DTWD1_ENST00000558653.1_Splice_Site	NM_020234.5	NP_064619.2	Q8N5C7	DTWD1_HUMAN	DTW domain containing 1									p.?(1)		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)		GACTTCAAGGTAAAAAAAAAAT	0.327																																																1	Unknown(1)	ovary(1)																																								SO:0001630	splice_region_variant	56986			BC032535	CCDS10132.1	15q21.2	2005-08-09			ENSG00000104047	ENSG00000104047			30926	protein-coding gene	gene with protein product							Standard	NM_020234		Approved	MDS009, MGC111207	uc001zxs.3	Q8N5C7	OTTHUMG00000131567	ENST00000251250.6:c.667+2->A	15.37:g.49927003_49927003dupA			Q567Q3|Q8WVG9|Q9NRU6	Splice_Site	INS	ENST00000251250.6	37	CCDS10132.1																																																																																				0.327	DTWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254431.2	NM_020234	Intron	A	49926994	-	A	49926993	8	5	710	1	0	1	1	0	0	0	1	0	4793	1652	57	0	679	0	DTWD1	15	49926993	Splice_Site	INS	-	TCGA-KL-8341-01A-11D-2310-10	1408307	49926993	52604399	103	39702											
GCOM1	81488	broad.mit.edu;mdanderson.org	37	15	58004208	58004208	+	Missense_Mutation	SNP	C	C	G			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr15:58004208C>G	ENST00000299638.3	+	3	999	c.785C>G	c.(784-786)tCt>tGt	p.S262C	GCOM1_ENST00000380568.3_Intron|POLR2M_ENST00000380557.4_Missense_Mutation_p.S105C|GCOM1_ENST00000484300.1_3'UTR|GCOM1_ENST00000380569.2_Missense_Mutation_p.S444C|POLR2M_ENST00000380563.2_Missense_Mutation_p.S262C|GCOM1_ENST00000587652.1_Missense_Mutation_p.S659C	NM_015532.3	NP_056347.1	P0CAP2	GRL1A_HUMAN	polymerase (RNA) II (DNA directed) polypeptide M	262					maintenance of ER location (GO:0051685)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)	DNA-directed RNA polymerase activity (GO:0003899)										AATGATTCATCTAGTCATTGC	0.403																																																0													67	65	66					15																	58004208		2192	4292	6484	SO:0001583	missense	81488			AF326773	CCDS32252.1, CCDS42045.1	15q21.3	2013-01-21	2011-11-07	2011-11-07		ENSG00000255529		"RNA polymerase subunits"	14862	protein-coding gene	gene with protein product		606485	"glutamate receptor, ionotropic, N-methyl D-aspartate-like 1A"	GRINL1A		16769904, 22850672	Standard	NM_015532		Approved	Gdown, Gdown1, GCOM1	uc002aev.1	P0CAP2	OTTHUMG00000166486	ENST00000299638.3:c.785C>G	15.37:g.58004208C>G	ENSP00000299638:p.Ser262Cys		Q6EER8|Q6EES2|Q6EEV3|Q6EF00|Q6EF01|Q6EF02|Q6EF46|Q6EFN8|Q6EM48|Q6K046|Q6K050|Q6K051|Q6ZQZ3|Q8NC58|Q8NCF3|Q96DI5|Q96JB7|Q96NF5|Q9Y3V6	Missense_Mutation	SNP	ENST00000299638.3	37	CCDS32252.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.648457	0.47258	.	.	ENSG00000137878;ENSG00000255529;ENSG00000255529;ENSG00000255529	ENST00000380569;ENST00000380563;ENST00000299638;ENST00000380557	T	0.29917	1.55	4.85	1.81	0.25067	.	0.777046	0.11914	N	0.517340	T	0.41719	0.1171	.	.	.	0.09310	N	1	P;D;P	0.67145	0.955;0.996;0.8	P;P;B	0.56216	0.707;0.794;0.421	T	0.19549	-1.0302	9	0.54805	T	0.06	3.5611	8.7103	0.34380	0.0:0.6569:0.2603:0.0828	.	105;262;444	P0CAP2-2;P0CAP2;P0CAP1-11	.;GRL1A_HUMAN;.	C	444;262;262;105	ENSP00000369943:S444C	ENSP00000369943:S444C	S	+	2	0	GCOM1;GRINL1A	55791500	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	0.855000	0.27805	0.308000	0.22923	0.655000	0.94253	TCT		0.403	POLR2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255719.2			G	58004208	C	G	58004208	3	3	710	1	0	0	0	0	1	0	0	0	6306	913	32	4	1482	4	GCOM1	15	58004208	Missense_Mutation	SNP	C	TCGA-KL-8341-01A-11D-2310-10	8077215	58004208	44527184	104	39703			3	80		3	3	80	C		4.862974e-08
GCOM1	81488	broad.mit.edu;mdanderson.org	37	15	58004276	58004276	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr15:58004276C>T	ENST00000299638.3	+	3	1067	c.853C>T	c.(853-855)Ctt>Ttt	p.L285F	GCOM1_ENST00000380568.3_Intron|POLR2M_ENST00000380557.4_Missense_Mutation_p.L128F|GCOM1_ENST00000484300.1_3'UTR|GCOM1_ENST00000380569.2_Missense_Mutation_p.L467F|POLR2M_ENST00000380563.2_Missense_Mutation_p.L285F|GCOM1_ENST00000587652.1_Missense_Mutation_p.L682F	NM_015532.3	NP_056347.1	P0CAP2	GRL1A_HUMAN	polymerase (RNA) II (DNA directed) polypeptide M	285					maintenance of ER location (GO:0051685)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)	DNA-directed RNA polymerase activity (GO:0003899)										TAAGCAGCATCTTGATGACAT	0.488																																																0													57	56	57					15																	58004276		2192	4292	6484	SO:0001583	missense	81488			AF326773	CCDS32252.1, CCDS42045.1	15q21.3	2013-01-21	2011-11-07	2011-11-07		ENSG00000255529		"RNA polymerase subunits"	14862	protein-coding gene	gene with protein product		606485	"glutamate receptor, ionotropic, N-methyl D-aspartate-like 1A"	GRINL1A		16769904, 22850672	Standard	NM_015532		Approved	Gdown, Gdown1, GCOM1	uc002aev.1	P0CAP2	OTTHUMG00000166486	ENST00000299638.3:c.853C>T	15.37:g.58004276C>T	ENSP00000299638:p.Leu285Phe		Q6EER8|Q6EES2|Q6EEV3|Q6EF00|Q6EF01|Q6EF02|Q6EF46|Q6EFN8|Q6EM48|Q6K046|Q6K050|Q6K051|Q6ZQZ3|Q8NC58|Q8NCF3|Q96DI5|Q96JB7|Q96NF5|Q9Y3V6	Missense_Mutation	SNP	ENST00000299638.3	37	CCDS32252.1	.	.	.	.	.	.	.	.	.	.	C	19.41	3.822039	0.71028	.	.	ENSG00000137878;ENSG00000255529;ENSG00000255529;ENSG00000255529	ENST00000380569;ENST00000380563;ENST00000299638;ENST00000380557	T	0.29142	1.58	4.76	4.76	0.60689	.	0.886809	0.09915	N	0.739245	T	0.51466	0.1676	.	.	.	0.33828	D	0.629945	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.997	T	0.57447	-0.7810	9	0.59425	D	0.04	-7.978	7.3211	0.26528	0.0:0.8194:0.0:0.1806	.	128;285;467	P0CAP2-2;P0CAP2;P0CAP1-11	.;GRL1A_HUMAN;.	F	467;285;285;128	ENSP00000369943:L467F	ENSP00000369943:L467F	L	+	1	0	GCOM1;GRINL1A	55791568	0.988000	0.35896	0.963000	0.40424	0.984000	0.73092	1.091000	0.30915	2.627000	0.88993	0.591000	0.81541	CTT		0.488	POLR2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255719.2			T	58004276	C	T	58004276	3	4	710	1	0	0	0	0	1	0	0	0	6306	913	32	2	1550	2	GCOM1	15	58004276	Missense_Mutation	SNP	C	TCGA-KL-8341-01A-11D-2310-10	68	58004276	44527116	105	39704			3	80		3	3	80	C		4.862974e-08
GCOM1	81488	broad.mit.edu;mdanderson.org	37	15	58004287	58004287	+	Silent	SNP	C	C	T			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr15:58004287C>T	ENST00000299638.3	+	3	1078	c.864C>T	c.(862-864)atC>atT	p.I288I	GCOM1_ENST00000380568.3_Intron|POLR2M_ENST00000380557.4_Silent_p.I131I|GCOM1_ENST00000484300.1_3'UTR|GCOM1_ENST00000380569.2_Silent_p.I470I|POLR2M_ENST00000380563.2_Silent_p.I288I|GCOM1_ENST00000587652.1_Silent_p.I685I	NM_015532.3	NP_056347.1	P0CAP2	GRL1A_HUMAN	polymerase (RNA) II (DNA directed) polypeptide M	288					maintenance of ER location (GO:0051685)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)	DNA-directed RNA polymerase activity (GO:0003899)										TTGATGACATCACAGCAGCTC	0.483																																																0													55	54	55					15																	58004287		2192	4290	6482	SO:0001819	synonymous_variant	81488			AF326773	CCDS32252.1, CCDS42045.1	15q21.3	2013-01-21	2011-11-07	2011-11-07		ENSG00000255529		"RNA polymerase subunits"	14862	protein-coding gene	gene with protein product		606485	"glutamate receptor, ionotropic, N-methyl D-aspartate-like 1A"	GRINL1A		16769904, 22850672	Standard	NM_015532		Approved	Gdown, Gdown1, GCOM1	uc002aev.1	P0CAP2	OTTHUMG00000166486	ENST00000299638.3:c.864C>T	15.37:g.58004287C>T			Q6EER8|Q6EES2|Q6EEV3|Q6EF00|Q6EF01|Q6EF02|Q6EF46|Q6EFN8|Q6EM48|Q6K046|Q6K050|Q6K051|Q6ZQZ3|Q8NC58|Q8NCF3|Q96DI5|Q96JB7|Q96NF5|Q9Y3V6	Silent	SNP	ENST00000299638.3	37	CCDS32252.1																																																																																				0.483	POLR2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255719.2			T	58004287	C	T	58004287	2	4	710	1	0	0	0	0	0	0	0	1	6306	816	29	2		2	GCOM1	15	58004287	Silent	SNP	C	TCGA-KL-8341-01A-11D-2310-10	11	58004287	44527105	106	39705			3	80		3	3	80	C		4.862974e-08
FAM81A	145773	mdanderson.org	37	15	59808946	59808946	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr15:59808946A>G	ENST00000288228.5	+	8	1076	c.889A>G	c.(889-891)Agg>Ggg	p.R297G		NM_152450.2	NP_689663.2	Q8TBF8	FA81A_HUMAN	family with sequence similarity 81, member A	297										endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						TCAGAGAACAAGGCAAGAAGA	0.463																																																0													109	105	106					15																	59808946		1957	4149	6106	SO:0001583	missense	145773				CCDS45269.1	15q22.2	2012-10-02			ENSG00000157470	ENSG00000157470			28379	protein-coding gene	gene with protein product							Standard	NM_152450		Approved	MGC26690	uc002agc.2	Q8TBF8	OTTHUMG00000171915	ENST00000288228.5:c.889A>G	15.37:g.59808946A>G	ENSP00000288228:p.Arg297Gly			Missense_Mutation	SNP	ENST00000288228.5	37	CCDS45269.1	.	.	.	.	.	.	.	.	.	.	A	8.480	0.859642	0.17178	.	.	ENSG00000157470	ENST00000288228	T	0.72942	-0.7	5.65	5.65	0.86999	.	0.157787	0.44902	D	0.000410	T	0.50565	0.1623	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.16289	0.015	T	0.49072	-0.8977	10	0.87932	D	0	-26.1318	10.2736	0.43497	0.8346:0.1654:0.0:0.0	.	297	Q8TBF8	FA81A_HUMAN	G	297	ENSP00000288228:R297G	ENSP00000288228:R297G	R	+	1	2	FAM81A	57596238	0.988000	0.35896	0.453000	0.27007	0.106000	0.19336	4.474000	0.60203	2.281000	0.76405	0.528000	0.53228	AGG		0.463	FAM81A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415876.1	NM_152450		G	59808946	A	G	59808946	3	3	710	1	0	0	0	0	1	0	0	0	5630	63	3	3	915	3	FAM81A	15	59808946	Missense_Mutation	SNP	A	TCGA-KL-8341-01A-11D-2310-10	1804659	59808946	42722446	107	39706											
VPS13C	54832	hgsc.bcm.edu	37	15	62261606	62261606	+	Silent	SNP	G	G	A			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr15:62261606G>A	ENST00000261517.5	-	28	2876	c.2803C>T	c.(2803-2805)Cta>Tta	p.L935L	VPS13C_ENST00000395896.4_Silent_p.L935L|VPS13C_ENST00000395898.3_Silent_p.L892L|VPS13C_ENST00000249837.3_Silent_p.L892L	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)									p.L935V(1)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTAAATACTAGAATTGTATCT	0.299																																																1	Substitution - Missense(1)	ovary(1)											63	60	61					15																	62261606		2195	4281	6476	SO:0001819	synonymous_variant	54832			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"vacuolar protein sorting 13C (yeast)"				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.2803C>T	15.37:g.62261606G>A				Silent	SNP	ENST00000261517.5	37	CCDS32257.1																																																																																				0.299	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		A	62261606	G	A	62261606	2	1	710	1	0	0	0	0	0	0	0	1	17196	933	33	2		2	VPS13C	15	62261606	Silent	SNP	G	TCGA-KL-8341-01A-11D-2310-10	2452660	62261606	40269786	108	39707											
HERC1	8925	mdanderson.org	37	15	64010819	64010819	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr15:64010819T>C	ENST00000443617.2	-	21	4019	c.3932A>G	c.(3931-3933)aAg>aGg	p.K1311R		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1311					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						TTCAAGGTTCTTGCAAGCAAG	0.358																																																0													86	75	78					15																	64010819		1847	4098	5945	SO:0001583	missense	8925			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.3932A>G	15.37:g.64010819T>C	ENSP00000390158:p.Lys1311Arg		Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.019604	0.75275	.	.	ENSG00000103657	ENST00000443617	T	0.03580	3.88	5.5	4.36	0.52297	.	0.000000	0.85682	D	0.000000	T	0.04815	0.0130	L	0.50333	1.59	0.45452	D	0.998429	B	0.06786	0.001	B	0.04013	0.001	T	0.27331	-1.0077	10	0.59425	D	0.04	.	8.5418	0.33397	0.0:0.069:0.131:0.8	.	1311	Q15751	HERC1_HUMAN	R	1311	ENSP00000390158:K1311R	ENSP00000390158:K1311R	K	-	2	0	HERC1	61797872	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.962000	0.63687	0.899000	0.36444	0.533000	0.62120	AAG		0.358	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		C	64010819	T	C	64010819	3	2	710	1	0	0	0	0	1	0	0	0	7059	1609	56	3	10885	3	HERC1	15	64010819	Missense_Mutation	SNP	T	TCGA-KL-8341-01A-11D-2310-10	1749213	64010819	38520573	109	39708											
SNX1	6642	broad.mit.edu	37	15	64426911	64426912	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr15:64426911_64426912insA	ENST00000559844.1	+	12	1284_1285	c.1270_1271insA	c.(1270-1272)caafs	p.Q424fs	SNX1_ENST00000560829.1_Frame_Shift_Ins_p.Q206fs|SNX1_ENST00000561026.1_Frame_Shift_Ins_p.Q359fs|SNX1_ENST00000261889.5_Frame_Shift_Ins_p.Q424fs|SNX1_ENST00000353874.4_Intron			Q13596	SNX1_HUMAN	sorting nexin 1	424	BAR.				early endosome to Golgi transport (GO:0034498)|intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)|retromer complex (GO:0030904)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						GCAGGATGCCCAAGCCACACTG	0.619																																																0																																										SO:0001589	frameshift_variant	6642			BC000357	CCDS32266.1, CCDS32268.1, CCDS58371.1	15q22.31	2011-05-03			ENSG00000028528	ENSG00000028528		"Sorting nexins"	11172	protein-coding gene	gene with protein product		601272				8638121	Standard	NM_003099		Approved	SNX1A, MGC8664, HsT17379, Vps5	uc010uio.2	Q13596		ENST00000559844.1:c.1272dupA	15.37:g.64426913_64426913dupA	ENSP00000453785:p.Gln424fs		A6NM19|A8K6T7|H0Y2M5|O60750|O60751|Q6ZRJ8	Frame_Shift_Ins	INS	ENST00000559844.1	37	CCDS32266.1																																																																																				0.619	SNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418559.1	NM_003099		A	64426912	-	A	64426911	7	5	710	1	0	1	1	0	0	0	0	0	14886	595	21	0	1316	0	SNX1	15	64426911	Frame_Shift_Ins	INS	-	TCGA-KL-8341-01A-11D-2310-10	416092	64426911	38104481	110	39709											
C15orf58	390637	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	15	90784689	90784689	+	Silent	SNP	G	G	A	rs373465372		TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr15:90784689G>A	ENST00000558017.1	+	4	969	c.549G>A	c.(547-549)ccG>ccA	p.P183P	GDPGP1_ENST00000329600.6_Silent_p.P183P	NM_001013657.2	NP_001013679.2	Q6ZNW5	GDPP1_HUMAN	GDP-D-glucose phosphorylase 1	183					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)										GCCTGCTGCCGGGTGCACTGA	0.662																																																0													39	43	42					15																	90784689		2199	4298	6497	SO:0001819	synonymous_variant	390637				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.549G>A	15.37:g.90784689G>A				Silent	SNP	ENST00000558017.1	37	CCDS32327.1																																																																																				0.662	GDPGP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416973.1	NM_001013657		A	90784689	G	A	90784689	2	1	710	1	0	0	0	0	0	0	0	1	1808	1103	39	1		1	C15orf58	15	90784689	Silent	SNP	G	TCGA-KL-8341-01A-11D-2310-10	26357778	90784689	11746703	111	39710											
FAM174B	400451	broad.mit.edu	37	15	93173567	93173567	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr15:93173567T>C	ENST00000327355.5	-	2	651	c.353A>G	c.(352-354)aAg>aGg	p.K118R	FAM174B_ENST00000555748.1_5'UTR|FAM174B_ENST00000555064.1_5'UTR|FAM174B_ENST00000555696.1_5'UTR|FAM174B_ENST00000553393.1_5'UTR	NM_207446.2	NP_997329.2	Q3ZCQ3	F174B_HUMAN	family with sequence similarity 174, member B	118						integral component of membrane (GO:0016021)				endometrium(2)|lung(1)	3						CTTTAACCTCTTTCCCGACCT	0.512																																																0													96	87	90					15																	93173567		2023	4188	6211	SO:0001583	missense	400451				CCDS45355.1	15q26.1	2012-10-03			ENSG00000185442	ENSG00000185442			34339	protein-coding gene	gene with protein product							Standard	NM_207446		Approved	LOC400451, MGC102891	uc010boe.3	Q3ZCQ3	OTTHUMG00000171744	ENST00000327355.5:c.353A>G	15.37:g.93173567T>C	ENSP00000329040:p.Lys118Arg		Q3ZCR9|Q8NBH7	Missense_Mutation	SNP	ENST00000327355.5	37	CCDS45355.1	.	.	.	.	.	.	.	.	.	.	T	7.910	0.736234	0.15574	.	.	ENSG00000185442	ENST00000327355	T	0.38887	1.11	5.38	1.87	0.25490	.	0.063055	0.64402	D	0.000009	T	0.29588	0.0738	L	0.37630	1.12	0.80722	D	1	B	0.24426	0.103	B	0.23574	0.047	T	0.05007	-1.0912	10	0.36615	T	0.2	-15.2595	8.1803	0.31307	0.0:0.327:0.0:0.673	.	118	Q3ZCQ3	F174B_HUMAN	R	118	ENSP00000329040:K118R	ENSP00000329040:K118R	K	-	2	0	FAM174B	90974571	1.000000	0.71417	0.104000	0.21259	0.211000	0.24417	1.253000	0.32886	0.075000	0.16796	0.482000	0.46254	AAG		0.512	FAM174B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414931.1	NM_207446		C	93173567	T	C	93173567	3	2	710	1	0	0	0	0	1	0	0	0	5498	1609	56	3	134	3	FAM174B	15	93173567	Missense_Mutation	SNP	T	TCGA-KL-8341-01A-11D-2310-10	2388878	93173567	9357825	112	39711											
PDIA2	64714	mdanderson.org	37	16	334732	334732	+	Silent	SNP	C	C	T	rs45593734	byFrequency	TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr16:334732C>T	ENST00000219406.6	+	3	498	c.480C>T	c.(478-480)gaC>gaT	p.D160D	PDIA2_ENST00000404312.1_Silent_p.D160D	NM_006849.2	NP_006840.2	Q13087	PDIA2_HUMAN	protein disulfide isomerase family A, member 2	160					cell redox homeostasis (GO:0045454)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein retention in ER lumen (GO:0006621)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				GGCTGGAGGACGAGGCGGCCG	0.716													c|||	640	0.127796	0.0862	0.0994	5008	,	,		12306	0.0962		0.16	False		,,,				2504	0.2035															0								C		328,3770		14,300,1735	8	14	12		480	-3.5	0.3	16	dbSNP_127	12	1280,6964		99,1082,2941	no	coding-synonymous	PDIA2	NM_006849.2		113,1382,4676	TT,TC,CC		15.5264,8.0039,13.0287		160/526	334732	1608,10734	2049	4122	6171	SO:0001819	synonymous_variant	64714			U19948	CCDS42089.1	16p13.3	2009-11-20	2005-06-29	2005-03-03	ENSG00000185615	ENSG00000185615	5.3.4.1	"Protein disulfide isomerases"	14180	protein-coding gene	gene with protein product		608012	"protein disulfide isomerase, pancreatic", "protein disulfide isomerase-associated 2"	PDIP		8561901	Standard	NM_006849		Approved	PDA2, PDI, PDIR	uc002cgo.1	Q13087	OTTHUMG00000064891	ENST00000219406.6:c.480C>T	16.37:g.334732C>T			A6ZJ64|B4DI27|Q2WGM4|Q4TT67|Q6B010|Q96KJ6|Q9BW95	Silent	SNP	ENST00000219406.6	37	CCDS42089.1	245	0.11217948717948718	33	0.06707317073170732	40	0.11049723756906077	54	0.0944055944055944	118	0.15567282321899736	c	0.097	-1.157292	0.01686	0.080039	0.155264	ENSG00000185615	ENST00000456379	.	.	.	3.75	-3.55	0.04639	.	.	.	.	.	T	0.00109	0.0003	.	.	.	0.44485	P	0.00257099999999999	.	.	.	.	.	.	T	0.21008	-1.0258	3	.	.	.	.	3.4234	0.07401	0.1195:0.1343:0.119:0.6272	rs45593734;rs62032217	.	.	.	M	157	.	.	T	+	2	0	PDIA2	274733	0.000000	0.05858	0.349000	0.25694	0.141000	0.21300	-2.516000	0.00954	-0.782000	0.04541	0.457000	0.33378	ACG		0.716	PDIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139315.3	NM_006849		T	334732	C	T	334732	2	4	710	1	0	0	0	0	0	0	0	1	11670	535	19	1		1	PDIA2	16	334732	Silent	SNP	C	TCGA-KL-8341-01A-11D-2310-10		334732	90020021	113	39712											
C16orf11	146325	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	16	613379	613379	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr16:613379C>T	ENST00000409413.3	+	2	364	c.85C>T	c.(85-87)Cgg>Tgg	p.R29W		NM_145270.2	NP_660313.1	P0CG20	PRR35_HUMAN		29										central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						CTACATCCCGCGGCCCTGGGG	0.617																																																0													80	90	87					16																	613379		2043	4173	6216	SO:0001583	missense	146325																														ENST00000409413.3:c.85C>T	16.37:g.613379C>T	ENSP00000386499:p.Arg29Trp		B8ZZ27|Q8N233|Q96AX3|Q96S23	Missense_Mutation	SNP	ENST00000409413.3	37	CCDS45365.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.988919	0.74589	.	.	ENSG00000161992	ENST00000409413	.	.	.	4.97	2.74	0.32292	.	0.000000	0.45361	D	0.000380	T	0.69584	0.3127	M	0.71581	2.175	0.31577	N	0.655637	D	0.89917	1.0	D	0.97110	1.0	T	0.75758	-0.3205	9	0.87932	D	0	.	13.8683	0.63603	0.3286:0.6714:0.0:0.0	.	29	P0CG20	CP011_HUMAN	W	29	.	ENSP00000386499:R29W	R	+	1	2	C16orf11	553380	0.016000	0.18221	0.926000	0.36857	0.996000	0.88848	0.287000	0.18920	1.064000	0.40671	0.563000	0.77884	CGG		0.617	C16orf11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000333913.1			T	613379	C	T	613379	3	4	710	1	0	0	0	0	1	0	0	0	1812	759	27	1	87	1	C16orf11	16	613379	Missense_Mutation	SNP	C	TCGA-KL-8341-01A-11D-2310-10	278647	613379	89741374	114	39713											
TSC2	7249	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	16	2113034	2113034	+	Missense_Mutation	SNP	A	A	T			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr16:2113034A>T	ENST00000219476.3	+	14	2053	c.1423A>T	c.(1423-1425)Atc>Ttc	p.I475F	TSC2_ENST00000353929.4_Missense_Mutation_p.I475F|TSC2_ENST00000350773.4_Missense_Mutation_p.I475F|TSC2_ENST00000401874.2_Missense_Mutation_p.I475F|TSC2_ENST00000568454.1_Missense_Mutation_p.I486F|TSC2_ENST00000439673.2_Missense_Mutation_p.I438F|TSC2_ENST00000382538.6_Missense_Mutation_p.I426F	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	475					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)				TGTGCTGCTCATCAACAGGCA	0.672			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																													yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"E, O"	0													78	60	66					16																	2113034		1992	3831	5823	SO:0001583	missense	7249	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 160"	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.1423A>T	16.37:g.2113034A>T	ENSP00000219476:p.Ile475Phe		A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	.	27.0	4.794086	0.90453	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	T;T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;-0.29;-0.29	5.24	5.24	0.73138	Armadillo-type fold (1);	0.108239	0.64402	D	0.000007	T	0.73869	0.3642	L	0.47716	1.5	0.51482	D	0.999929	D;D;D;D;D;D	0.69078	0.962;0.994;0.98;0.997;0.997;0.978	P;D;P;D;D;D	0.70227	0.756;0.947;0.759;0.947;0.968;0.942	T	0.74711	-0.3573	10	0.51188	T	0.08	-28.4526	10.37	0.44049	0.923:0.0:0.077:0.0	.	426;438;475;475;475;475	B4DIL8;P49815-6;P49815-4;P49815-3;P49815-5;P49815	.;.;.;.;.;TSC2_HUMAN	F	475;475;475;438;426;475	ENSP00000219476:I475F;ENSP00000384468:I475F;ENSP00000248099:I475F;ENSP00000399232:I438F;ENSP00000371978:I426F;ENSP00000344383:I475F	ENSP00000219476:I475F	I	+	1	0	TSC2	2053035	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.752000	0.74898	1.973000	0.57446	0.533000	0.62120	ATC		0.672	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		T	2113034	A	T	2113034	3	4	710	1	0	0	0	0	1	0	0	0	16611	217	8	5	1473	5	TSC2	16	2113034	Missense_Mutation	SNP	A	TCGA-KL-8341-01A-11D-2310-10	1499655	2113034	88241719	115	39714											
ABCC6	368	ucsc.edu;mdanderson.org;bcgsc.ca	37	16	16251599	16251599	+	Missense_Mutation	SNP	C	C	T	rs2238472	byFrequency	TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr16:16251599C>T	ENST00000205557.7	-	27	3832	c.3803G>A	c.(3802-3804)cGg>cAg	p.R1268Q		NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1268	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.		R -> Q (associated with lower plasma triglycerides and higher plasma HDL cholesterol; dbSNP:rs2238472). {ECO:0000269|PubMed:10811882, ECO:0000269|PubMed:10913334, ECO:0000269|PubMed:11536079, ECO:0000269|PubMed:11776382, ECO:0000269|PubMed:16086317, ECO:0000269|PubMed:18987736}.		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)	CCCAAAGTCCCGGAACTCGAT	0.622													C|||	908	0.18131	0.0673	0.2983	5008	,	,		18599	0.125		0.3012	False		,,,				2504	0.1871															0			GRCh37	CM001044	ABCC6	M	rs2238472	C	GLN/ARG	473,3921	222.6+/-239.4	29,415,1753	52	45	48	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	3803	2	0.6	16	dbSNP_98	48	2437,6163	401.1+/-347.0	345,1747,2208	yes	missense	ABCC6	NM_001171.5	43	374,2162,3961	TT,TC,CC		28.3372,10.7647,22.395	benign	1268/1504	16251599	2910,10084	2197	4300	6497	SO:0001583	missense	368			AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"ATP binding cassette transporters / subfamily C"	57	protein-coding gene	gene with protein product		603234	"pseudoxanthoma elasticum"	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.3803G>A	16.37:g.16251599C>T	ENSP00000205557:p.Arg1268Gln		A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Missense_Mutation	SNP	ENST00000205557.7	37	CCDS10568.1	423	0.1936813186813187	41	0.08333333333333333	90	0.24861878453038674	68	0.11888111888111888	224	0.2955145118733509	c	11.76	1.734060	0.30684	0.107647	0.283372	ENSG00000091262	ENST00000205557;ENST00000205558	D	0.90563	-2.69	5.09	2.01	0.26516	ABC transporter-like (1);	0.165125	0.27654	N	0.018411	T	0.00012	0.0000	N	0.17901	0.54	0.09310	P	0.9999999999913843	B	0.24576	0.106	B	0.12156	0.007	T	0.02639	-1.1130	9	0.25106	T	0.35	.	10.2379	0.43294	0.0:0.7787:0.0:0.2213	rs2238472;rs17289934;rs52824827;rs60072648;rs2238472	1268	O95255	MRP6_HUMAN	Q	1268;206	ENSP00000205557:R1268Q	ENSP00000205557:R1268Q	R	-	2	0	ABCC6	16159100	0.000000	0.05858	0.612000	0.29024	0.951000	0.60555	-0.326000	0.07965	0.191000	0.20236	0.530000	0.56133	CGG		0.622	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2			T	16251599	C	T	16251599	3	4	710	1	0	0	0	0	1	0	0	0	57	652	23	1	728	1	ABCC6	16	16251599	Missense_Mutation	SNP	C	TCGA-KL-8341-01A-11D-2310-10	14138565	16251599	74103154	116	39715											
ARHGAP17	55114	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	16	24950855	24950855	+	Missense_Mutation	SNP	G	G	T			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr16:24950855G>T	ENST00000289968.6	-	17	1623	c.1554C>A	c.(1552-1554)caC>caA	p.H518Q	ARHGAP17_ENST00000303665.5_Intron|ARHGAP17_ENST00000441763.2_3'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	518					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		CGGGGGATATGTGCTTTCTAT	0.592																																																0													26	27	27					16																	24950855		2195	4298	6493	SO:0001583	missense	55114			AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750		"Rho GTPase activating proteins"	18239	protein-coding gene	gene with protein product		608293				10967100, 11431473	Standard	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.1554C>A	16.37:g.24950855G>T	ENSP00000289968:p.His518Gln		A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Missense_Mutation	SNP	ENST00000289968.6	37	CCDS32409.1	.	.	.	.	.	.	.	.	.	.	G	11.48	1.652483	0.29336	.	.	ENSG00000140750	ENST00000289968;ENST00000455311	T	0.20463	2.07	5.0	2.99	0.34606	.	0.000000	0.46758	D	0.000262	T	0.35480	0.0933	M	0.63428	1.95	0.80722	D	1	B;D	0.89917	0.296;1.0	B;D	0.87578	0.046;0.998	T	0.11867	-1.0570	10	0.21014	T	0.42	.	7.2856	0.26337	0.2681:0.0:0.7319:0.0	.	518;51	Q68EM7;Q68EM7-7	RHG17_HUMAN;.	Q	518	ENSP00000289968:H518Q	ENSP00000289968:H518Q	H	-	3	2	ARHGAP17	24858356	1.000000	0.71417	0.991000	0.47740	0.975000	0.68041	4.165000	0.58196	1.334000	0.45468	-0.150000	0.13652	CAC		0.592	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3	NM_018054		T	24950855	G	T	24950855	3	4	710	1	0	0	0	0	1	0	0	0	867	1368	48	4	1107	4	ARHGAP17	16	24950855	Missense_Mutation	SNP	G	TCGA-KL-8341-01A-11D-2310-10	8699256	24950855	65403898	117	39716											
SLC7A6	9057	broad.mit.edu;mdanderson.org	37	16	68325151	68325151	+	Silent	SNP	G	G	A			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr16:68325151G>A	ENST00000566454.1	+	7	1103	c.834G>A	c.(832-834)gtG>gtA	p.V278V	SLC7A6_ENST00000219343.6_Silent_p.V278V	NM_001076785.2	NP_001070253.1			solute carrier family 7 (amino acid transporter light chain, y+L system), member 6											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)		TGCCAATTGTGACGCTCATCT	0.458																																																0													279	232	248					16																	68325151		2198	4300	6498	SO:0001819	synonymous_variant	9057			D87432	CCDS32470.1	16q22.1	2013-07-15	2011-07-12		ENSG00000103064	ENSG00000103064		"Solute carriers"	11064	protein-coding gene	gene with protein product		605641				9878049	Standard	NM_001076785		Approved	y+LAT-2, KIAA0245, LAT3, LAT-2	uc002evu.2	Q92536	OTTHUMG00000176544	ENST00000566454.1:c.834G>A	16.37:g.68325151G>A				Silent	SNP	ENST00000566454.1	37	CCDS32470.1																																																																																				0.458	SLC7A6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432466.1	NM_003983		A	68325151	G	A	68325151	2	1	710	1	0	0	0	0	0	0	0	1	14707	1277	45	2		2	SLC7A6	16	68325151	Silent	SNP	G	TCGA-KL-8341-01A-11D-2310-10	43374296	68325151	22029602	118	39717											
CLEC18C	283971	mdanderson.org	37	16	70211266	70211266	+	Silent	SNP	G	G	A			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr16:70211266G>A	ENST00000569347.2	+	3	593	c.339G>A	c.(337-339)ctG>ctA	p.L113L	CLEC18C_ENST00000314151.8_Silent_p.L113L|CLEC18C_ENST00000561612.1_Intron|CLEC18C_ENST00000536907.2_Silent_p.L113L|CLEC18C_ENST00000541793.2_Silent_p.L113L	NM_173619.2	NP_775890.2	Q8NCF0	CL18C_HUMAN	C-type lectin domain family 18, member C	113	SCP.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(3)|large_intestine(6)|lung(1)	10						TGCAGCTGCTGCCCGCGGGCT	0.652																																																0													43	51	49					16																	70211266		2196	4298	6494	SO:0001819	synonymous_variant	283971			AL833339	CCDS32473.1	16q22.1	2010-04-27	2009-03-10	2009-03-10		ENSG00000157335		"C-type lectin domain containing"	28538	protein-coding gene	gene with protein product						12477932	Standard	XM_005255906		Approved	MGC34761		Q8NCF0		ENST00000569347.2:c.339G>A	16.37:g.70211266G>A			Q8IUW8	Silent	SNP	ENST00000569347.2	37	CCDS32473.1	.	.	.	.	.	.	.	.	.	.	g	1.109	-0.658906	0.03454	.	.	ENSG00000157335	ENST00000539438	.	.	.	4.32	4.32	0.51571	.	.	.	.	.	T	0.33876	0.0878	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.15235	-1.0444	5	0.02654	T	1	.	12.6961	0.57005	0.0:0.0:1.0:0.0	.	.	.	.	Y	110	.	ENSP00000445424:C110Y	C	+	2	0	CLEC18C	68768767	1.000000	0.71417	0.999000	0.59377	0.042000	0.13812	0.640000	0.24705	2.125000	0.65367	0.298000	0.19748	TGC		0.652	CLEC18C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434588.2	NM_173619		A	70211266	G	A	70211266	2	1	710	1	0	0	0	0	0	0	0	1	3506	1306	46	2		2	CLEC18C	16	70211266	Silent	SNP	G	TCGA-KL-8341-01A-11D-2310-10	1886115	70211266	20143487	119	39718											
PKD1L2	114780	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	16	81242140	81242140	+	RNA	SNP	G	G	A			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr16:81242140G>A	ENST00000525539.1	-	0	715				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						GCCCTGAGTCGGACACAGGTT	0.562																																																0													87	85	85					16																	81242140		2126	4222	6348			114780			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.81242140G>A			Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000525539.1	37		.	.	.	.	.	.	.	.	.	.	G	22.2	4.257915	0.80246	.	.	ENSG00000166473	ENST00000337114	T	0.18810	2.19	4.29	4.29	0.51040	D-galactoside/L-rhamnose binding SUEL lectin domain (2);	0.071096	0.56097	D	0.000024	T	0.48295	0.1492	.	.	.	0.43857	D	0.996451	D;D	0.89917	1.0;1.0	D;D	0.80764	0.99;0.994	T	0.56655	-0.7943	9	0.87932	D	0	-19.3424	16.3594	0.83251	0.0:0.0:1.0:0.0	.	239;239	Q7Z442-3;Q7Z442	.;PK1L2_HUMAN	L	239	ENSP00000337397:P239L	ENSP00000337397:P239L	P	-	2	0	PKD1L2	79799641	1.000000	0.71417	0.880000	0.34516	0.915000	0.54546	7.373000	0.79623	1.940000	0.56252	0.462000	0.41574	CCG		0.562	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			A	81242140	G	A	81242140	1	1	710	0	1	0	0	0	0	0	0	0	11967	1116	39	1		1	PKD1L2	16	81242140	RNA	SNP	G	TCGA-KL-8341-01A-11D-2310-10	11030874	81242140	9112613	120	39719											
TP53	7157	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	17	7577064	7577064	+	Nonsense_Mutation	SNP	T	T	A			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr17:7577064T>A	ENST00000269305.4	-	8	1063	c.874A>T	c.(874-876)Aaa>Taa	p.K292*	TP53_ENST00000445888.2_Nonsense_Mutation_p.K292*|TP53_ENST00000420246.2_Nonsense_Mutation_p.K292*|TP53_ENST00000455263.2_Nonsense_Mutation_p.K292*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Nonsense_Mutation_p.K292*|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	292	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		K -> E (in sporadic cancers; somatic mutation).|K -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> I (in LFS; germline mutation and in a sporadic cancer; somatic mutation). {ECO:0000269|PubMed:10484981}.|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in a sporadic cancer; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> 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.K291fs*48(8)|p.0?(8)|p.?(2)|p.E294fs*51(2)|p.K292E(2)|p.K292*(2)|p.K292fs*13(1)|p.T284_G293del10(1)|p.L265_K305del41(1)|p.R290fs*12(1)|p.R290fs*50(1)|p.K291fs*12(1)|p.R290_P295>X(1)|p.E285fs*13(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)	GGCTCCCCTTTCTTGCGGAGA	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)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	33	Deletion - Frameshift(15)|Whole gene deletion(8)|Deletion - In frame(3)|Substitution - Nonsense(2)|Unknown(2)|Substitution - Missense(2)|Complex - deletion inframe(1)	upper_aerodigestive_tract(12)|urinary_tract(4)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|stomach(2)|central_nervous_system(2)|breast(2)|salivary_gland(1)|large_intestine(1)|endometrium(1)|oesophagus(1)											104	89	94					17																	7577064		2203	4300	6503	SO:0001587	stop_gained	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.874A>T	17.37:g.7577064T>A	ENSP00000269305:p.Lys292*		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	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.521424	0.85600	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	5.12	4.03	0.46877	.	0.183996	0.46145	D	0.000309	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.716	5.2408	0.15471	0.0:0.0898:0.182:0.7282	.	.	.	.	X	292;292;292;292;292;281;160	.	ENSP00000269305:K292X	K	-	1	0	TP53	7517789	0.998000	0.40836	0.909000	0.35828	0.257000	0.26127	1.203000	0.32284	0.944000	0.37579	0.459000	0.35465	AAA		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577064	T	A	7577064	4	1	710	1	0	0	0	0	0	1	0	0	16386	1792	62	5	412	5	TP53	17	7577064	Nonsense_Mutation	SNP	T	TCGA-KL-8341-01A-11D-2310-10		7577064	73618146	121	39720											
CCDC144B	284047	broad.mit.edu	37	17	18498496	18498497	+	RNA	INS	-	-	A	rs397961350|rs59933375	byFrequency	TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr17:18498496_18498497insA	ENST00000442583.1	-	0	749							Q3MJ40	C144B_HUMAN	coiled-coil domain containing 144B (pseudogene)											NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	36						TCTGCAGGCCTGAAAAAAAAAA	0.243																																																0																																												284047			AK093811		17p11.2	2012-11-19	2011-09-02		ENSG00000154874	ENSG00000154874			26704	pseudogene	pseudogene			"coiled-coil domain containing 144B"			11997339	Standard	NR_036647		Approved	FLJ36492	uc002guc.2	Q3MJ40	OTTHUMG00000059531		17.37:g.18498496_18498497insA			Q6P5Q3|Q8N200	RNA	INS	ENST00000442583.1	37																																																																																					0.243	CCDC144B-006	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000132102.1	NM_182568		A	18498497	-	A	18498496	6	5	710	0	1	1	1	0	0	0	0	0	2780	1594	55	0		0	CCDC144B	17	18498496	RNA	INS	-	TCGA-KL-8341-01A-11D-2310-10	10921432	18498496	62696714	122	39721											
KCNH4	23415	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	17	40321548	40321548	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr17:40321548G>A	ENST00000264661.3	-	9	1869	c.1537C>T	c.(1537-1539)Ctc>Ttc	p.L513F	KCNH4_ENST00000607371.1_Missense_Mutation_p.L513F	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	513					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)		AAGTATTCGAGCATGCGCTGC	0.647																																					NSCLC(117;707 1703 2300 21308 31858)											0													79	72	74					17																	40321548		2203	4300	6503	SO:0001583	missense	23415			AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.1537C>T	17.37:g.40321548G>A	ENSP00000264661:p.Leu513Phe			Missense_Mutation	SNP	ENST00000264661.3	37	CCDS11420.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.675197	0.88445	.	.	ENSG00000089558	ENST00000264661	D	0.96967	-4.19	4.18	4.18	0.49190	Cyclic nucleotide-binding-like (1);	0.000000	0.34291	N	0.004085	D	0.97309	0.9120	M	0.71581	2.175	0.80722	D	1	D	0.63880	0.993	P	0.61477	0.889	D	0.96990	0.9721	10	0.39692	T	0.17	.	16.6694	0.85261	0.0:0.0:1.0:0.0	.	513	Q9UQ05	KCNH4_HUMAN	F	513	ENSP00000264661:L513F	ENSP00000264661:L513F	L	-	1	0	KCNH4	37575074	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	6.426000	0.73374	2.148000	0.66965	0.462000	0.41574	CTC		0.647	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285		A	40321548	G	A	40321548	3	1	710	1	0	0	0	0	1	0	0	0	8036	971	34	2	1548	2	KCNH4	17	40321548	Missense_Mutation	SNP	G	TCGA-KL-8341-01A-11D-2310-10	21823052	40321548	40873662	123	39722											
PDK2	5164	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	17	48184157	48184157	+	Splice_Site	SNP	G	G	C			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr17:48184157G>C	ENST00000503176.1	+	5	678		c.e5-1		PDK2_ENST00000007708.3_Splice_Site	NM_002611.4	NP_002602.2	Q15119	PDK2_HUMAN	pyruvate dehydrogenase kinase, isozyme 2						cellular metabolic process (GO:0044237)|cellular response to nutrient (GO:0031670)|cellular response to reactive oxygen species (GO:0034614)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of cellular ketone metabolic process (GO:0010565)|regulation of gluconeogenesis (GO:0006111)|regulation of glucose metabolic process (GO:0010906)|regulation of pH (GO:0006885)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrial pyruvate dehydrogenase complex (GO:0005967)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	20						CCTGCCTGCAGCCCTCATCTT	0.582									Autosomal Dominant Polycystic Kidney Disease																																							0													132	96	108					17																	48184157		2203	4300	6503	SO:0001630	splice_region_variant	5164	Familial Cancer Database	ADPKD	L42451	CCDS11559.1, CCDS56039.1	17q21.33	2012-07-18	2005-11-16		ENSG00000005882	ENSG00000005882			8810	protein-coding gene	gene with protein product		602525	"pyruvate dehydrogenase kinase, isoenzyme 2"			7499431	Standard	NM_001199898		Approved	PDHK2	uc002iqc.3	Q15119	OTTHUMG00000161948	ENST00000503176.1:c.518-1G>C	17.37:g.48184157G>C			A8K3A7|B3KNW0|Q6P515|Q9BS05	Splice_Site	SNP	ENST00000503176.1	37	CCDS11559.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.141080	0.56936	.	.	ENSG00000005882	ENST00000007708;ENST00000508030;ENST00000503176;ENST00000503614;ENST00000505440;ENST00000510219	.	.	.	4.77	4.77	0.60923	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7108	0.85385	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PDK2	45539156	1.000000	0.71417	1.000000	0.80357	0.613000	0.37349	9.601000	0.98297	2.475000	0.83589	0.455000	0.32223	.		0.582	PDK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366492.2	NM_002611	Intron	C	48184157	G	C	48184157	5	2	710	1	0	0	0	0	0	0	1	0	11678	985	34	4	535	4	PDK2	17	48184157	Splice_Site	SNP	G	TCGA-KL-8341-01A-11D-2310-10	7862609	48184157	33011053	124	39723											
MYO5B	4645	mdanderson.org	37	18	47364066	47364067	+	Missense_Mutation	DNP	GC	GC	AT			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	GC	GC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr18:47364066_47364067GC>AT	ENST00000285039.7	-	37	5257_5258	c.4958_4959GC>AT	c.(4957-4959)tGC>tAT	p.C1653Y	RP11-886H22.1_ENST00000590532.2_5'Flank|MYO5B_ENST00000592688.1_Missense_Mutation_p.C223Y|SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000324581.6_Missense_Mutation_p.C768Y	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1653	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)		TAGCTTCCAGGCAGTATGAGTT	0.52																																																0																																										SO:0001583	missense	4645			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.4958_4959delinsAT	18.37:g.47364066_47364067delinsAT	ENSP00000285039:p.Cys1653Tyr		B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	DNP	ENST00000285039.7	37	CCDS42436.1																																																																																				0.52	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			AT	47364067	GC	AT	47364066	3	1	710	1	0	0	0	0	1	0	0	0	10081	1195	42	2	603	2	MYO5B	18	47364066	Missense_Mutation	DNP	GC	TCGA-KL-8341-01A-11D-2310-10		47364066	30713182	125	39724											
LDLR	3949	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	19	11210912	11210912	+	Nonsense_Mutation	SNP	C	C	A	rs2228671	byFrequency	TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr19:11210912C>A	ENST00000558518.1	+	2	268	c.81C>A	c.(79-81)tgC>tgA	p.C27*	LDLR_ENST00000535915.1_Nonsense_Mutation_p.C27*|LDLR_ENST00000557933.1_Nonsense_Mutation_p.C27*|LDLR_ENST00000558013.1_Nonsense_Mutation_p.C27*|LDLR_ENST00000545707.1_Nonsense_Mutation_p.C27*|LDLR_ENST00000455727.2_Nonsense_Mutation_p.C27*	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	27	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.		C -> W (in San Francisco).		cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|intestinal cholesterol absorption (GO:0030299)|lipid metabolic process (GO:0006629)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|phototransduction, visible light (GO:0007603)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol homeostasis (GO:2000188)|regulation of phosphatidylcholine catabolic process (GO:0010899)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|very-low-density lipoprotein particle receptor activity (GO:0030229)	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Porfimer(DB00707)	GCGACAGATGCGAAAGAAACG	0.522																																					GBM(18;201 575 7820 21545)											1	Unknown(1)	lung(1)	GRCh37	CM045064	LDLR	M	rs2228671						129	111	117					19																	11210912		2203	4300	6503	SO:0001587	stop_gained	3949			AY114155	CCDS12254.1, CCDS56083.1, CCDS56084.1, CCDS56085.1, CCDS58651.1	19p13.2	2014-09-17	2008-08-01		ENSG00000130164	ENSG00000130164		"Low density lipoprotein receptors"	6547	protein-coding gene	gene with protein product	"familial hypercholesterolemia"	606945					Standard	NM_000527		Approved	LDLCQ2	uc002mqk.4	P01130		ENST00000558518.1:c.81C>A	19.37:g.11210912C>A	ENSP00000454071:p.Cys27*		B4DII3|B4DJZ8|B4DR00|B4DTQ3|C0JYY8|H0YLU8|H0YNT7|Q53ZD9|Q59FQ1|Q9UDH7	Nonsense_Mutation	SNP	ENST00000558518.1	37	CCDS12254.1	.	.	.	.	.	.	.	.	.	.	T	18.92	3.725318	0.68959	.	.	ENSG00000130164	ENST00000252444;ENST00000545707;ENST00000535915;ENST00000455727	.	.	.	5.51	-1.69	0.08186	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.7256	0.57168	0.0:0.4551:0.0:0.5449	.	.	.	.	X	27	.	ENSP00000252444:C27X	C	+	3	2	LDLR	11071912	0.022000	0.18835	0.000000	0.03702	0.375000	0.29983	0.018000	0.13422	-1.248000	0.02503	-0.352000	0.07741	TGC		0.522	LDLR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415973.2			A	11210912	C	A	11210912	4	1	710	1	0	0	0	0	0	1	0	0	8706	776	27	4	87	4	LDLR	19	11210912	Nonsense_Mutation	SNP	C	TCGA-KL-8341-01A-11D-2310-10		11210912	47918071	126	39725											
LILRA1	11024	mdanderson.org	37	19	55107397	55107397	+	Missense_Mutation	SNP	G	G	A	rs149029653	byFrequency	TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr19:55107397G>A	ENST00000251372.3	+	6	1137	c.955G>A	c.(955-957)Gca>Aca	p.A319T	LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRA1_ENST00000453777.1_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	319					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CATCCTGATCGCAGGTGAGGA	0.682													a|||	17	0.00339457	0.0106	0.0	5008	,	,		14307	0.001		0.001	False		,,,				2504	0.001															0													19	28	25					19																	55107397		2190	4285	6475	SO:0001583	missense	11024			AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.955G>A	19.37:g.55107397G>A	ENSP00000251372:p.Ala319Thr		O75018|Q3MJA6	Missense_Mutation	SNP	ENST00000251372.3	37	CCDS12901.1	.	.	.	.	.	.	.	.	.	.	g	0.012	-1.690489	0.00738	.	.	ENSG00000104974	ENST00000251372	T	0.00637	6.05	1.73	-3.45	0.04781	Immunoglobulin subtype (1);	0.886112	0.09212	N	0.833168	T	0.00356	0.0011	N	0.02391	-0.57	0.09310	N	1	B	0.26081	0.141	B	0.24848	0.056	T	0.42749	-0.9433	10	0.14656	T	0.56	.	8.3553	0.32327	0.7419:0.0:0.2581:0.0	.	319	O75019	LIRA1_HUMAN	T	319	ENSP00000251372:A319T	ENSP00000251372:A319T	A	+	1	0	LILRA1	59799209	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-5.248000	0.00138	-1.641000	0.01523	-1.031000	0.02408	GCA		0.682	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863		A	55107397	G	A	55107397	3	1	710	1	0	0	0	0	1	0	0	0	8786	1087	38	1	973	1	LILRA1	19	55107397	Missense_Mutation	SNP	G	TCGA-KL-8341-01A-11D-2310-10	43896485	55107397	4021586	127	39726											
CABIN1	23523	broad.mit.edu;ucsc.edu;mdanderson.org	37	22	24472140	24472140	+	Silent	SNP	C	C	T			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr22:24472140C>T	ENST00000398319.2	+	19	3040	c.2655C>T	c.(2653-2655)ctC>ctT	p.L885L	CABIN1_ENST00000405822.2_Silent_p.L835L|CABIN1_ENST00000263119.5_Silent_p.L885L	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	885					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						CGCCCATGCTCCCATCCTCCC	0.582																																																0													111	85	94					22																	24472140		2203	4300	6503	SO:0001819	synonymous_variant	23523			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.2655C>T	22.37:g.24472140C>T			G5E9F3|Q6PHY0|Q9Y460	Silent	SNP	ENST00000398319.2	37	CCDS13823.1																																																																																				0.582	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		T	24472140	C	T	24472140	2	4	710	1	0	0	0	0	0	0	0	1	2530	842	30	2		2	CABIN1	22	24472140	Silent	SNP	C	TCGA-KL-8341-01A-11D-2310-10		24472140	26832426	128	39727											
SYN3	8224	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	22	33327400	33327400	+	Missense_Mutation	SNP	C	C	T	rs200324473		TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr22:33327400C>T	ENST00000358763.2	-	4	678	c.436G>A	c.(436-438)Gtg>Atg	p.V146M	SYN3_ENST00000332840.5_Missense_Mutation_p.V146M	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	146	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)	p.V146M(1)		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						CCATTTCTCACGACCTGCATG	0.478																																																1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)						C	MET/VAL,MET/VAL,MET/VAL	0,4406		0,0,2203	117	108	111		436,436,436	0.7	0.3	22		111	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense,missense	SYN3	NM_133633.2,NM_003490.3,NM_001135774.1	21,21,21	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	benign,benign,benign	146/445,146/581,146/580	33327400	3,13003	2203	4300	6503	SO:0001583	missense	8224			AF046873	CCDS13908.1	22q12.3	2008-05-14			ENSG00000185666	ENSG00000185666			11496	protein-coding gene	gene with protein product		602705				9539796	Standard	NM_003490		Approved		uc003amx.3	O14994	OTTHUMG00000031004	ENST00000358763.2:c.436G>A	22.37:g.33327400C>T	ENSP00000351614:p.Val146Met		B1B1F9	Missense_Mutation	SNP	ENST00000358763.2	37	CCDS13908.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.527933	0.27299	0.0	3.49E-4	ENSG00000185666	ENST00000358763;ENST00000332840;ENST00000390686	T;T	0.31247	1.5;1.5	5.42	0.732	0.18283	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Synapsin, pre-ATP-grasp domain (1);	0.377447	0.25968	N	0.027143	T	0.08935	0.0221	N	0.00972	-1.085	0.27204	N	0.96008	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.04013	0.0;0.001;0.0	T	0.29488	-1.0010	10	0.27082	T	0.32	.	8.2266	0.31572	0.0:0.2797:0.0:0.7203	.	146;146;146	Q17R54;B1B1F9;O14994	.;.;SYN3_HUMAN	M	146	ENSP00000351614:V146M;ENSP00000330219:V146M	ENSP00000330219:V146M	V	-	1	0	SYN3	31657400	0.022000	0.18835	0.263000	0.24496	0.725000	0.41563	-0.617000	0.05584	0.012000	0.14892	0.563000	0.77884	GTG		0.478	SYN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075892.4			T	33327400	C	T	33327400	3	4	710	1	0	0	0	0	1	0	0	0	15447	536	19	1	1350	1	SYN3	22	33327400	Missense_Mutation	SNP	C	TCGA-KL-8341-01A-11D-2310-10	8855260	33327400	17977166	129	39728											
MAPK11	5600	broad.mit.edu	37	22	50703803	50703804	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr22:50703803_50703804insC	ENST00000330651.6	-	11	1061_1062	c.961_962insG	c.(961-963)gagfs	p.E321fs	MAPK11_ENST00000495277.1_5'Flank	NM_002751.5	NP_002742.3	Q15759	MK11_HUMAN	mitogen-activated protein kinase 11	321					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)	ATCATATGGCTCGGCCTCTGGC	0.653																																					GBM(9;634 739 50668)											0																																										SO:0001589	frameshift_variant	5600			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.962dupG	22.37:g.50703804_50703804dupC	ENSP00000333685:p.Glu321fs		A8K730|B0LPG1|B7Z630|E7ETQ1|L7RT27|O00284|O15472|Q2XNF2	Frame_Shift_Ins	INS	ENST00000330651.6	37	CCDS14090.1																																																																																				0.653	MAPK11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316900.1			C	50703804	-	C	50703803	7	5	710	1	0	1	1	0	0	0	0	0	9275	1551	54	0	140	0	MAPK11	22	50703803	Frame_Shift_Ins	INS	-	TCGA-KL-8341-01A-11D-2310-10	17376403	50703803	600763	130	39729											
TAF9B	51616	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	X	77395087	77395087	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chrX:77395087G>A	ENST00000341864.5	-	1	116	c.22C>T	c.(22-24)Cct>Tct	p.P8S		NM_015975.4	NP_057059.2	Q9HBM6	TAF9B_HUMAN	TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa	8					DNA-templated transcription, initiation (GO:0006352)|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 transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell growth (GO:0030307)|programmed cell death (GO:0012501)|protein stabilization (GO:0050821)|response to organic cyclic compound (GO:0014070)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	14						TTCTTGGGAGGCGCCATCTTG	0.652																																																0													116	98	104					X																	77395087		2203	4296	6499	SO:0001583	missense	51616			AF220509	CCDS35340.1	Xq13.1-q21.1	2010-08-16	2006-01-04	2006-01-04	ENSG00000187325	ENSG00000187325			17306	protein-coding gene	gene with protein product		300754	"TAF9-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa"	TAF9L		15899866	Standard	XM_005262142		Approved	TAFII31L, DN-7, DN7, TFIID-31	uc004eda.3	Q9HBM6	OTTHUMG00000021887	ENST00000341864.5:c.22C>T	X.37:g.77395087G>A	ENSP00000339917:p.Pro8Ser		B2RUZ9|Q9Y2S3	Missense_Mutation	SNP	ENST00000341864.5	37	CCDS35340.1	.	.	.	.	.	.	.	.	.	.	G	3.298	-0.143546	0.06627	.	.	ENSG00000187325	ENST00000341864	T	0.38887	1.11	3.73	0.925	0.19424	.	0.440006	0.26163	N	0.025965	T	0.08891	0.0220	N	0.00707	-1.245	0.25701	N	0.985586	B	0.02656	0.0	B	0.08055	0.003	T	0.24190	-1.0167	10	0.07325	T	0.83	0.0098	1.6832	0.02836	0.1171:0.3115:0.3267:0.2448	.	8	Q9HBM6	TAF9B_HUMAN	S	8	ENSP00000339917:P8S	ENSP00000339917:P8S	P	-	1	0	TAF9B	77281743	1.000000	0.71417	0.987000	0.45799	0.983000	0.72400	1.743000	0.38258	0.060000	0.16281	0.600000	0.82982	CCT		0.652	TAF9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057308.1	NM_015975		A	77395087	G	A	77395087	3	1	710	1	0	0	0	0	1	0	0	0	15541	1203	42	2	761	2	TAF9B	23	77395087	Missense_Mutation	SNP	G	TCGA-KL-8341-01A-11D-2310-10		77395087	77875473	131	39730											
MAGEC1	9947	mdanderson.org	37	X	140994320	140994320	+	Missense_Mutation	SNP	G	G	T	rs7063168		TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chrX:140994320G>T	ENST00000285879.4	+	4	1416	c.1130G>T	c.(1129-1131)gGg>gTg	p.G377V	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	377										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)					CAGATTCCTGGGAGCCCCTCC	0.478										HNSCC(15;0.026)			-|||	115	0.0304636	0.0552	0.0173	3775	,	,		13319	0.0079		0.0159	False		,,,				2504	0.0061															0													103	108	107					X																	140994320		2201	4289	6490	SO:0001583	missense	9947			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.1130G>T	X.37:g.140994320G>T	ENSP00000285879:p.Gly377Val		A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	t	0.026	-1.372325	0.01214	.	.	ENSG00000155495	ENST00000285879	T	0.02446	4.29	.	.	.	.	.	.	.	.	T	0.01320	0.0043	N	0.08118	0	0.80722	P	0.0	B	0.06786	0.001	B	0.01281	0.0	T	0.45848	-0.9233	7	0.26408	T	0.33	.	4.0922	0.09975	0.0:0.0:0.3553:0.6447	.	377	O60732	MAGC1_HUMAN	V	377	ENSP00000285879:G377V	ENSP00000285879:G377V	G	+	2	0	MAGEC1	140821986	0.001000	0.12720	0.007000	0.13788	0.007000	0.05969	-2.809000	0.00756	-2.298000	0.00660	-2.354000	0.00241	GGG		0.478	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		T	140994320	G	T	140994320	3	4	710	1	0	0	0	0	1	0	0	0	9182	1232	43	4	1136	4	MAGEC1	23	140994320	Missense_Mutation	SNP	G	TCGA-KL-8341-01A-11D-2310-10	63599233	140994320	14276240	132	39731											
IKBKG	2539	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	X	153770612	153770612	+	Intron	SNP	G	G	C			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chrX:153770612G>C	ENST00000393564.2	-	2	233				G6PD_ENST00000369620.2_Intron|G6PD_ENST00000497281.1_Intron|IKBKG_ENST00000369607.1_Intron|IKBKG_ENST00000369609.5_Missense_Mutation_p.R45T|G6PD_ENST00000393562.2_Intron	NM_001042351.1	NP_001035810.1	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase						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)					GGTGGGGAAAGATGCTGTTCC	0.572																																																0													63	54	57					X																	153770612		1568	3582	5150	SO:0001627	intron_variant	8517			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.120+3638C>G	X.37:g.153770612G>C			D3DWX9|Q16000|Q16765|Q8IU70|Q8IU88|Q8IUA6|Q96PQ2	Missense_Mutation	SNP	ENST00000393564.2	37	CCDS44023.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.305731	0.23736	.	.	ENSG00000073009	ENST00000369609	D	0.91792	-2.91	2.67	0.872	0.19113	.	.	.	.	.	T	0.81616	0.4860	.	.	.	0.09310	N	0.999994	B	0.24483	0.104	B	0.26969	0.075	T	0.66114	-0.6004	8	0.14656	T	0.56	.	3.4967	0.07657	0.1619:0.2636:0.5745:0.0	.	45	Q9Y6K9-2	.	T	45	ENSP00000358622:R45T	ENSP00000358622:R45T	R	+	2	0	IKBKG	153423806	0.002000	0.14202	0.002000	0.10522	0.034000	0.12701	0.389000	0.20751	0.119000	0.18210	-0.333000	0.08304	AGA		0.572	G6PD-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061170.3	NM_000402		C	153770612	G	C	153770612	1	2	710	0	1	0	0	0	0	0	0	0	7615	942	33	4		4	IKBKG	23	153770612	Intron	SNP	G	TCGA-KL-8341-01A-11D-2310-10	12776292	153770612	1499948	133	39732											
ZFY	7544	broad.mit.edu;mdanderson.org;bcgsc.ca	37	Y	2829115	2829115	+	Splice_Site	SNP	G	G	A			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chrY:2829115G>A	ENST00000155093.3	+	3	383	c.62G>A	c.(61-63)gGa>gAa	p.G21E	ZFY_ENST00000449237.1_5'UTR|ZFY_ENST00000383052.1_Splice_Site_p.G21E|ZFY_ENST00000431102.1_Intron	NM_003411.3	NP_003402.2	P08048	ZFY_HUMAN	zinc finger protein, Y-linked	21					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)|kidney(3)|large_intestine(1)|lung(3)	8						ATTCTTTAAGGAGCTGATGCT	0.318																																																0																																										SO:0001630	splice_region_variant	7544			L10393	CCDS14774.1, CCDS48200.1, CCDS48201.1	Yp11.3	2013-01-08			ENSG00000067646	ENSG00000067646		"Zinc fingers, C2H2-type"	12870	protein-coding gene	gene with protein product		490000				2497060	Standard	NM_001145275		Approved	ZNF911	uc004fqj.3	P08048	OTTHUMG00000036159	ENST00000155093.3:c.62-1G>A	Y.37:g.2829115G>A			B4DVF7|Q14021|Q15558|Q1RME9|Q24JR0|Q96TF3	Missense_Mutation	SNP	ENST00000155093.3	37	CCDS14774.1																																																																																				0.318	ZFY-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088063.1	NM_003411	Missense_Mutation	A	2829115	G	A	2829115	5	1	710	1	0	0	0	0	0	0	1	0	17667	1188	41	2	68	2	ZFY	24	2829115	Splice_Site	SNP	G	TCGA-KL-8341-01A-11D-2310-10		2829115	56544451	134	39733											
CPSF3L	54973	broad.mit.edu	37	1	1254710	1254710	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr1:1254710T>C	ENST00000435064.1	-	4	477	c.395A>G	c.(394-396)aAg>aGg	p.K132R	CPSF3L_ENST00000411962.1_Intron|CPSF3L_ENST00000462432.1_5'Flank|CPSF3L_ENST00000419704.1_Intron|CPSF3L_ENST00000450926.2_Missense_Mutation_p.K132R|CPSF3L_ENST00000545578.1_Missense_Mutation_p.K103R|CPSF3L_ENST00000421495.2_Intron|RP5-890O3.9_ENST00000444968.1_RNA|CPSF3L_ENST00000540437.1_Missense_Mutation_p.K138R	NM_001256460.1|NM_017871.5	NP_001243389.1|NP_060341.2	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like	132					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)		AGCCACCACCTTCTTCATGCA	0.602																																																0													207	199	202					1																	1254710		2203	4300	6503	SO:0001583	missense	54973			AL136813	CCDS21.1, CCDS57959.1, CCDS57960.1, CCDS57961.1, CCDS72678.1	1p36.33	2008-02-05			ENSG00000127054	ENSG00000127054			26052	protein-coding gene	gene with protein product	"integrator complex subunit 11"	611354				15684398, 16239144	Standard	NM_001256456		Approved	FLJ20542, RC-68, CPSF73L, INT11, INTS11	uc001aee.2	Q5TA45	OTTHUMG00000003330	ENST00000435064.1:c.395A>G	1.37:g.1254710T>C	ENSP00000413493:p.Lys132Arg		A8K5S2|B3KPR3|B4DM87|G3V1S5|Q5TA46|Q5TA48|Q5TA52|Q5TA53|Q5TA54|Q7L3D7|Q96HY1|Q9BW36|Q9H0F9|Q9H8R5|Q9HAA6|Q9NWX9	Missense_Mutation	SNP	ENST00000435064.1	37	CCDS21.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.483527	0.84854	.	.	ENSG00000127054	ENST00000435064;ENST00000540437;ENST00000450926;ENST00000545578;ENST00000434694;ENST00000526332;ENST00000527719;ENST00000530031;ENST00000534345	T;T;T;T;T;T;T;T;T	0.79554	1.04;1.04;1.04;-1.28;1.04;0.91;-1.28;-1.28;1.04	4.73	4.73	0.59995	Beta-lactamase-like (2);	0.170393	0.52532	D	0.000076	D	0.84933	0.5582	L	0.48642	1.525	0.80722	D	1	D;D;D;D	0.71674	0.986;0.998;0.986;0.989	P;D;P;P	0.73380	0.787;0.98;0.787;0.865	T	0.82719	-0.0318	10	0.26408	T	0.33	-49.0445	14.4028	0.67060	0.0:0.0:0.0:1.0	.	132;151;138;132	Q5TA45-3;Q5TA51;G3V1S5;Q5TA45	.;.;.;INT11_HUMAN	R	132;138;132;103;132;8;138;179;133	ENSP00000413493:K132R;ENSP00000445001:K138R;ENSP00000392848:K132R;ENSP00000444672:K103R;ENSP00000411233:K132R;ENSP00000434790:K8R;ENSP00000436743:K138R;ENSP00000432009:K179R;ENSP00000435772:K133R	ENSP00000411233:K132R	K	-	2	0	CPSF3L	1244573	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.815000	0.86186	1.993000	0.58246	0.459000	0.35465	AAG		0.602	CPSF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009360.2	NM_017871		C	1254710	T	C	1254710	3	2	711	1	0	0	0	0	1	0	0	0	3829	1609	56	3	1463	3	CPSF3L	1	1254710	Missense_Mutation	SNP	T	TCGA-KL-8342-01A-11D-2310-10		1254710	247995911	1	39734											
GALE	11313	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	1	24122442	24122442	+	IGR	SNP	G	G	A			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr1:24122442G>A	ENST00000374514.3	+	0	1810				GALE_ENST00000374497.3_Silent_p.A348A|GALE_ENST00000470383.1_5'Flank	NM_007260.2	NP_009191.1	O95372	LYPA2_HUMAN	lysophospholipase II						fatty acid metabolic process (GO:0006631)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	hydrolase activity (GO:0016787)			endometrium(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|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;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		AGGGTCCTCAGGCTTGCGTGC	0.627																																																0													39	39	39					1																	24122442		2203	4300	6503	SO:0001628	intergenic_variant	2582			AF098668	CCDS241.1	1p36.11	2008-08-08			ENSG00000011009	ENSG00000011009	3.1.1.5		6738	protein-coding gene	gene with protein product							Standard	NM_007260		Approved	APT-2	uc001bht.3	O95372	OTTHUMG00000002961		1.37:g.24122442G>A			Q7Z4Z2	Silent	SNP	ENST00000374514.3	37	CCDS241.1																																																																																				0.627	LYPLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008245.1			A	24122442	G	A	24122442	1	1	711	0	1	0	0	0	0	0	0	0	6204	987	35	2		2	GALE	1	24122442	IGR	SNP	G	TCGA-KL-8342-01A-11D-2310-10	22867732	24122442	225128179	2	39735											
CNKSR1	10256	broad.mit.edu	37	1	26509852	26509852	+	Nonsense_Mutation	SNP	C	C	T	rs200619424		TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr1:26509852C>T	ENST00000374253.5	+	8	739	c.700C>T	c.(700-702)Cga>Tga	p.R234*	CNKSR1_ENST00000531191.1_5'UTR|CNKSR1_ENST00000361530.6_Nonsense_Mutation_p.R234*	NM_006314.2	NP_006305.2	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	234	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				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)	p.R234*(1)		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)		CACTGACTCCCGACTGCAGAT	0.637													C|||	1	0.000199681	0.0	0.0	5008	,	,		19569	0.0		0.001	False		,,,				2504	0.0				NSCLC(180;1396 2109 28270 30756 34275)											1	Substitution - Nonsense(1)	prostate(1)											108	105	106					1																	26509852		2203	4300	6503	SO:0001587	stop_gained	10256			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	ENST00000374253.5:c.700C>T	1.37:g.26509852C>T	ENSP00000363371:p.Arg234*		B1AMW9|O95381	Nonsense_Mutation	SNP	ENST00000374253.5	37		0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	24.0	4.479257	0.84747	.	.	ENSG00000142675	ENST00000361530;ENST00000374253	.	.	.	5.0	3.97	0.46021	.	1.470530	0.03914	N	0.282324	.	.	.	.	.	.	0.19575	N	0.999969	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	0.0047	4.2499	0.10689	0.0:0.5771:0.2685:0.1544	.	.	.	.	X	234	.	ENSP00000354609:R234X	R	+	1	2	CNKSR1	26382439	0.000000	0.05858	0.018000	0.16275	0.256000	0.26092	0.008000	0.13197	2.307000	0.77673	0.655000	0.94253	CGA		0.637	CNKSR1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000089943.2	NM_006314		T	26509852	C	T	26509852	4	4	711	1	0	0	0	0	0	1	0	0	3608	644	23	1	730	1	CNKSR1	1	26509852	Nonsense_Mutation	SNP	C	TCGA-KL-8342-01A-11D-2310-10	2387410	26509852	222740769	3	39736											
RNF115	27246	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	145687066	145687066	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr1:145687066G>A	ENST00000369291.5	+	8	962	c.758G>A	c.(757-759)aGt>aAt	p.S253N		NM_014455.2	NP_055270.1			ring finger protein 115											breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13						TTTCACAGCAGTTGTATTGTG	0.438																																																0													170	142	151					1																	145687066		2203	4300	6503	SO:0001583	missense	27246			AF419857	CCDS72863.1	1q12	2013-01-09	2008-06-16	2008-06-16	ENSG00000121848	ENSG00000265491		"RING-type (C3HC4) zinc fingers"	18154	protein-coding gene	gene with protein product			"zinc finger protein 364"	ZNF364			Standard	NM_014455		Approved	CL469780	uc001eoj.3	Q9Y4L5	OTTHUMG00000013758	ENST00000369291.5:c.758G>A	1.37:g.145687066G>A	ENSP00000358297:p.Ser253Asn			Missense_Mutation	SNP	ENST00000369291.5	37	CCDS922.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.795342	0.50208	.	.	ENSG00000121848	ENST00000369291	T	0.44881	0.91	5.27	5.27	0.74061	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, RING-H2-type (1);	0.155609	0.56097	D	0.000021	T	0.15349	0.0370	L	0.31664	0.95	0.30814	N	0.7385	B	0.24317	0.101	B	0.25506	0.061	T	0.04796	-1.0926	10	0.30854	T	0.27	-1.0535	9.7448	0.40440	0.0909:0.0:0.9091:0.0	.	253	Q9Y4L5	RN115_HUMAN	N	253	ENSP00000358297:S253N	ENSP00000358297:S253N	S	+	2	0	RNF115	144398423	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	3.496000	0.53288	2.748000	0.94277	0.655000	0.94253	AGT		0.438	RNF115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038554.2	NM_014455		A	145687066	G	A	145687066	3	1	711	1	0	0	0	0	1	0	0	0	13436	1029	36	2	788	2	RNF115	1	145687066	Missense_Mutation	SNP	G	TCGA-KL-8342-01A-11D-2310-10	119177214	145687066	103563555	4	39737											
BCAN	63827	ucsc.edu;bcgsc.ca	37	1	156626107	156626107	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr1:156626107G>A	ENST00000329117.5	+	9	2312	c.1976G>A	c.(1975-1977)gGg>gAg	p.G659E	RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	659	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)					CACAATGGTGGGACATGCTTG	0.657																																																0													81	73	76					1																	156626107		2203	4300	6503	SO:0001583	missense	63827			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.1976G>A	1.37:g.156626107G>A	ENSP00000331210:p.Gly659Glu		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	ENST00000329117.5	37	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	G	19.26	3.792492	0.70452	.	.	ENSG00000132692	ENST00000329117	D	0.97480	-4.4	5.63	5.63	0.86233	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000004	D	0.99083	0.9685	H	0.96662	3.86	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.99157	1.0860	10	0.56958	D	0.05	-27.3889	18.2473	0.89991	0.0:0.0:1.0:0.0	.	659	Q96GW7	PGCB_HUMAN	E	659	ENSP00000331210:G659E	ENSP00000331210:G659E	G	+	2	0	BCAN	154892731	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.929000	0.48916	2.654000	0.90174	0.561000	0.74099	GGG		0.657	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		A	156626107	G	A	156626107	3	1	711	1	0	0	0	0	1	0	0	0	1345	1232	43	2	2080	2	BCAN	1	156626107	Missense_Mutation	SNP	G	TCGA-KL-8342-01A-11D-2310-10	10939041	156626107	92624514	5	39738											
OR2B11	127623	ucsc.edu	37	1	247615262	247615262	+	Missense_Mutation	SNP	A	A	G	rs35305980|rs397733455	byFrequency	TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr1:247615262A>G	ENST00000318749.6	-	1	46	c.23T>C	c.(22-24)tTc>tCc	p.F8S		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	8						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(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)			GTCCCCTAAGAAGCTATGGTT	0.473																																																0													74	72	73					1																	247615262		2167	4183	6350	SO:0001583	missense	127623				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.23T>C	1.37:g.247615262A>G	ENSP00000325682:p.Phe8Ser		B2RP03	Missense_Mutation	SNP	ENST00000318749.6	37	CCDS31090.1	.	.	.	.	.	.	.	.	.	.	A	0.336	-0.953364	0.02285	.	.	ENSG00000177535	ENST00000318749	T	0.36157	1.27	4.81	-0.489	0.12052	.	1.437710	0.04272	N	0.342190	T	0.17577	0.0422	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.15178	-1.0446	10	0.20519	T	0.43	.	4.2883	0.10865	0.4326:0.3673:0.2001:0.0	.	8	Q5JQS5	OR2BB_HUMAN	S	8	ENSP00000325682:F8S	ENSP00000325682:F8S	F	-	2	0	OR2B11	245681885	.	.	0.000000	0.03702	0.071000	0.16799	.	.	-0.162000	0.10964	0.445000	0.29226	TTC		0.473	OR2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097620.1	NM_001004492		G	247615262	A	G	247615262	3	3	711	1	0	0	0	0	1	0	0	0	10990	246	9	3	933	3	OR2B11	1	247615262	Missense_Mutation	SNP	A	TCGA-KL-8342-01A-11D-2310-10	90989155	247615262	1635359	6	39739											
AFF3	3899	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	2	100167950	100167950	+	Missense_Mutation	SNP	C	C	T	rs138104794		TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr2:100167950C>T	ENST00000409236.2	-	23	3779	c.3667G>A	c.(3667-3669)Gcc>Acc	p.A1223T	AFF3_ENST00000356421.2_Missense_Mutation_p.A1248T|AFF3_ENST00000317233.4_Missense_Mutation_p.A1223T|AFF3_ENST00000409579.1_Missense_Mutation_p.A1248T			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	1223					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						GACAGGTGGGCGCTGTTCCGC	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		16134	0.0		0.001	False		,,,				2504	0.0															0								C	THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	37	36	36		3742,3667	-11.6	0.1	2	dbSNP_134	36	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	AFF3	NM_001025108.1,NM_002285.2	58,58	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign,benign	1248/1252,1223/1227	100167950	2,13004	2203	4300	6503	SO:0001583	missense	3899			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.3667G>A	2.37:g.100167950C>T	ENSP00000387207:p.Ala1223Thr		B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	CCDS42723.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	15.46	2.839305	0.51057	2.27E-4	1.16E-4	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236	T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39	6.17	-11.6	0.00059	.	0.703668	0.14247	N	0.331667	T	0.43055	0.1230	N	0.12569	0.235	0.27833	N	0.941366	B;B	0.15719	0.014;0.006	B;B	0.19946	0.027;0.003	T	0.23226	-1.0194	10	0.23891	T	0.37	.	20.6491	0.99593	0.0:0.3068:0.0:0.6932	.	1223;1248	P51826;P51826-2	AFF3_HUMAN;.	T	1223;1248;1248;1223	ENSP00000317421:A1223T;ENSP00000348793:A1248T;ENSP00000386834:A1248T;ENSP00000387207:A1223T	ENSP00000317421:A1223T	A	-	1	0	AFF3	99534382	0.004000	0.15560	0.050000	0.19076	0.966000	0.64601	-0.867000	0.04241	-2.907000	0.00309	-0.812000	0.03155	GCC		0.612	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		T	100167950	C	T	100167950	3	4	711	1	0	0	0	0	1	0	0	0	358	768	27	1	17	1	AFF3	2	100167950	Missense_Mutation	SNP	C	TCGA-KL-8342-01A-11D-2310-10		100167950	143031423	7	39740											
RBMS1	5937	broad.mit.edu;hgsc.bcm.edu	37	2	161135123	161135123	+	Missense_Mutation	SNP	G	G	T			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr2:161135123G>T	ENST00000348849.3	-	11	1428	c.998C>A	c.(997-999)cCc>cAc	p.P333H	RBMS1_ENST00000392753.3_Missense_Mutation_p.P346H|RBMS1_ENST00000409075.1_Missense_Mutation_p.P297H|RBMS1_ENST00000474820.1_5'UTR|RBMS1_ENST00000409972.1_Missense_Mutation_p.P297H|RBMS1_ENST00000409289.2_Missense_Mutation_p.P297H	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting protein 1	333					DNA replication (GO:0006260)|RNA processing (GO:0006396)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)		PLA2R1/RBMS1(2)								CATTGATGCGGGCTGTAGTGA	0.493											OREG0015036	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													114	97	103					2																	161135123		2203	4298	6501	SO:0001583	missense	5937			D28482	CCDS2213.1	2q24.2	2013-02-12			ENSG00000153250	ENSG00000153250		"RNA binding motif (RRM) containing"	9907	protein-coding gene	gene with protein product	"suppressor of cdc 2 (cdc13) with RNA binding motif 2", "c-myc gene single strand binding protein 2"	602310	"chromosome 2 open reading frame 12"	C2orf12		8041632, 8134115, 7838710	Standard	NM_016836		Approved	SCR2, MSSP-1, MSSP-2, MSSP-3, YC1, HCC-4, DKFZp564H0764	uc002ubo.3	P29558	OTTHUMG00000132031	ENST00000348849.3:c.998C>A	2.37:g.161135123G>T	ENSP00000294904:p.Pro333His	1814	Q14869|Q15433|Q53P46|Q53QX8|Q53RG6|Q8WV20	Missense_Mutation	SNP	ENST00000348849.3	37	CCDS2213.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.144459	0.77888	.	.	ENSG00000153250	ENST00000348849;ENST00000409075;ENST00000409289;ENST00000392753;ENST00000409972	T;T;T;T;T	0.30981	1.54;1.8;1.8;1.51;1.8	6.08	6.08	0.98989	.	0.092424	0.85682	D	0.000000	T	0.58509	0.2127	M	0.72353	2.195	0.80722	D	1	D;P;D;D;D;D	0.76494	0.999;0.458;0.995;0.999;0.998;0.996	D;B;P;D;D;D	0.73380	0.973;0.212;0.874;0.98;0.966;0.923	T	0.56842	-0.7912	10	0.72032	D	0.01	.	20.6634	0.99662	0.0:0.0:1.0:0.0	.	212;333;330;215;297;346	Q5CZ65;P29558;P29558-2;Q5CZ66;E7ETU5;B4DN88	.;RBMS1_HUMAN;.;.;.;.	H	333;297;297;346;297	ENSP00000294904:P333H;ENSP00000386347:P297H;ENSP00000386571:P297H;ENSP00000376508:P346H;ENSP00000387280:P297H	ENSP00000294904:P333H	P	-	2	0	RBMS1	160843369	1.000000	0.71417	0.975000	0.42487	0.932000	0.56968	5.221000	0.65272	2.894000	0.99253	0.655000	0.94253	CCC		0.493	RBMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255043.4	NM_016836		T	161135123	G	T	161135123	3	4	711	1	0	0	0	0	1	0	0	0	13154	1232	43	4	234	4	RBMS1	2	161135123	Missense_Mutation	SNP	G	TCGA-KL-8342-01A-11D-2310-10	60967173	161135123	82064250	8	39741											
USP19	10869	broad.mit.edu;mdanderson.org;bcgsc.ca	37	3	49153200	49153200	+	Missense_Mutation	SNP	G	G	T			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr3:49153200G>T	ENST00000398888.2	-	10	1658	c.1340C>A	c.(1339-1341)cCc>cAc	p.P447H	USP19_ENST00000398892.3_Missense_Mutation_p.P487H|USP19_ENST00000417901.1_Missense_Mutation_p.P550H|USP19_ENST00000453664.1_Missense_Mutation_p.P538H|USP19_ENST00000434032.2_Missense_Mutation_p.P548H|USP19_ENST00000398896.1_Missense_Mutation_p.P255H|USP19_ENST00000488993.1_5'Flank|USP19_ENST00000398898.2_Missense_Mutation_p.P487H	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	447					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)		ATGCTCCATGGGTGTGCGGGT	0.597																																																0													89	94	92					3																	49153200		2111	4220	6331	SO:0001583	missense	10869			AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"Zinc fingers, MYND-type", "Ubiquitin-specific peptidases"	12617	protein-coding gene	gene with protein product		614471	"ubiquitin specific protease 19"			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.1340C>A	3.37:g.49153200G>T	ENSP00000381863:p.Pro447His		A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Missense_Mutation	SNP	ENST00000398888.2	37	CCDS43090.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.746657	0.30955	.	.	ENSG00000172046	ENST00000398896;ENST00000398898;ENST00000417901;ENST00000453664;ENST00000398892;ENST00000398888;ENST00000434032;ENST00000306026	T;T;T;T;T;T;T;T	0.33654	2.03;2.04;2.14;2.15;2.04;2.16;2.14;1.4	6.17	6.17	0.99709	Domain of unknown function DUF1872 (1);	0.595439	0.18798	N	0.130869	T	0.51652	0.1687	L	0.40543	1.245	0.19300	N	0.999974	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.998;0.999;0.999;0.998	D;D;D;P;D;D;P	0.74023	0.975;0.982;0.975;0.903;0.946;0.957;0.903	T	0.47129	-0.9141	10	0.72032	D	0.01	-14.2127	14.6223	0.68594	0.0696:0.0:0.9304:0.0	.	613;548;538;447;487;533;255	A5PKX8;E9PEG8;E7EN22;O94966;B5MEG5;O94966-2;E7ESU0	.;.;.;UBP19_HUMAN;.;.;.	H	255;487;550;538;487;447;548;535	ENSP00000381870:P255H;ENSP00000381872:P487H;ENSP00000395260:P550H;ENSP00000400090:P538H;ENSP00000381867:P487H;ENSP00000381863:P447H;ENSP00000401197:P548H;ENSP00000303503:P535H	ENSP00000303503:P535H	P	-	2	0	USP19	49128204	0.992000	0.36948	0.144000	0.22314	0.242000	0.25591	5.098000	0.64548	2.941000	0.99782	0.655000	0.94253	CCC		0.597	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257721.1	NM_006677		T	49153200	G	T	49153200	3	4	711	1	0	0	0	0	1	0	0	0	17055	1232	43	4	2684	4	USP19	3	49153200	Missense_Mutation	SNP	G	TCGA-KL-8342-01A-11D-2310-10		49153200	148869230	9	39742											
GHSR	2693	broad.mit.edu	37	3	172165985	172165985	+	Silent	SNP	C	C	T			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr3:172165985C>T	ENST00000241256.2	-	1	261	c.219G>A	c.(217-219)gaG>gaA	p.E73E	GHSR_ENST00000427970.1_Silent_p.E73E	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	73					actin polymerization or depolymerization (GO:0008154)|adult feeding behavior (GO:0008343)|cellular response to insulin stimulus (GO:0032869)|decidualization (GO:0046697)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone secretion (GO:0030252)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin secretion (GO:0046676)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of appetite (GO:0032100)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of hindgut contraction (GO:0043134)|regulation of synapse assembly (GO:0051963)|response to food (GO:0032094)|response to hormone (GO:0009725)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone secretagogue receptor activity (GO:0001616)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			TGGTGCGCAGCTCGCGGAAGC	0.652																																					Esophageal Squamous(93;641 1401 20883 29581 34638)											0													74	61	66					3																	172165985		2203	4300	6503	SO:0001819	synonymous_variant	2693			AY429112	CCDS3218.1, CCDS46959.1	3q26.31	2012-08-08			ENSG00000121853	ENSG00000121853		"GPCR / Class A : Ghrelin receptors"	4267	protein-coding gene	gene with protein product		601898				8688086	Standard	NM_198407		Approved		uc003fib.2	Q92847	OTTHUMG00000156946	ENST00000241256.2:c.219G>A	3.37:g.172165985C>T			Q14D12|Q6ISR8|Q92848|Q96RJ7	Silent	SNP	ENST00000241256.2	37	CCDS3218.1																																																																																				0.652	GHSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346728.1	NM_004122		T	172165985	C	T	172165985	2	4	711	1	0	0	0	0	0	0	0	1	6377	796	28	2		2	GHSR	3	172165985	Silent	SNP	C	TCGA-KL-8342-01A-11D-2310-10	123012785	172165985	25856445	10	39743											
TMEM41A	90407	ucsc.edu	37	3	185214712	185214712	+	Silent	SNP	T	T	C			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr3:185214712T>C	ENST00000421852.1	-	2	272	c.177A>G	c.(175-177)cgA>cgG	p.R59R	TMEM41A_ENST00000475480.1_5'UTR|TMEM41A_ENST00000296254.3_Silent_p.R59R	NM_080652.3	NP_542383.1	Q96HV5	TM41A_HUMAN	transmembrane protein 41A	59						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)			TCCGGTACTCTCGAAGGACCT	0.587																																																0													48	46	47					3																	185214712		2202	4300	6502	SO:0001819	synonymous_variant	90407			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.177A>G	3.37:g.185214712T>C			A8K4B3|D3DNU2|Q6ZMJ0	Silent	SNP	ENST00000421852.1	37	CCDS3271.1																																																																																				0.587	TMEM41A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345174.1	NM_080652		C	185214712	T	C	185214712	2	2	711	1	0	0	0	0	0	0	0	1	16169	1538	54	3		3	TMEM41A	3	185214712	Silent	SNP	T	TCGA-KL-8342-01A-11D-2310-10	13048727	185214712	12807718	11	39744											
ZCCHC4	29063	broad.mit.edu	37	4	25353254	25353254	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr4:25353254delT	ENST00000302874.4	+	8	978	c.954delT	c.(952-954)tatfs	p.Y318fs	AC108218.1_ENST00000580712.1_RNA|ZCCHC4_ENST00000505451.1_3'UTR	NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	318							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)				TTTTCCCCTATTTTTTTGAAT	0.353																																																0													138	127	130					4																	25353254		1789	4063	5852	SO:0001589	frameshift_variant	29063			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.954delT	4.37:g.25353254delT	ENSP00000303468:p.Tyr318fs		B2RXF6|B4DRD8|B7ZW20|Q5IW78|Q96AN7	Frame_Shift_Del	DEL	ENST00000302874.4	37	CCDS43218.1																																																																																				0.353	ZCCHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361151.1			-	25353254	T	-	25353254	7	5	711	1	0	1	0	1	0	0	0	0	17595	1500	52	0	984	0	ZCCHC4	4	25353254	Frame_Shift_Del	DEL	T	TCGA-KL-8342-01A-11D-2310-10		25353254	165801022	12	39745											
FGA	2243	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	4	155506781	155506781	+	Missense_Mutation	SNP	G	G	C			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr4:155506781G>C	ENST00000302053.3	-	5	1878	c.1800C>G	c.(1798-1800)agC>agG	p.S600R	FGA_ENST00000403106.3_Missense_Mutation_p.S600R	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	600					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)	CCATTTTATAGCTCTTGCTTT	0.453																																					NSCLC(143;340 1922 20892 22370 48145)											0													140	133	135					4																	155506781		2203	4300	6503	SO:0001583	missense	2243				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.1800C>G	4.37:g.155506781G>C	ENSP00000306361:p.Ser600Arg		A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	CCDS3787.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.01|11.01	1.511900|1.511900	0.27036|0.27036	.|.	.|.	ENSG00000171560|ENSG00000171560	ENST00000457487|ENST00000302053;ENST00000403106	.|T;T	.|0.58940	.|0.3;2.3	5.81|5.81	4.08|4.08	0.47627|0.47627	.|.	.|3.106990	.|0.00531	.|N	.|0.000202	T|T	0.70500|0.70500	0.3231|0.3231	M|M	0.62723|0.62723	1.935|1.935	0.09310|0.09310	N|N	1|1	.|D;D	.|0.67145	.|0.97;0.996	.|P;P	.|0.53649	.|0.62;0.731	T|T	0.49143|0.49143	-0.8970|-0.8970	6|10	0.44086|0.45353	T|T	0.13|0.12	.|.	11.5816|11.5816	0.50894|0.50894	0.2122:0.0:0.7878:0.0|0.2122:0.0:0.7878:0.0	.|.	.|600;600	.|P02671-2;P02671	.|.;FIBA_HUMAN	G|R	242|600	.|ENSP00000306361:S600R;ENSP00000385981:S600R	ENSP00000407891:A242G|ENSP00000306361:S600R	A|S	-|-	2|3	0|2	FGA|FGA	155726231|155726231	0.028000|0.028000	0.19301|0.19301	0.008000|0.008000	0.14137|0.14137	0.069000|0.069000	0.16628|0.16628	1.552000|1.552000	0.36244|0.36244	0.387000|0.387000	0.25024|0.25024	-0.797000|-0.797000	0.03246|0.03246	GCT|AGC		0.453	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		C	155506781	G	C	155506781	3	2	711	1	0	0	0	0	1	0	0	0	5832	962	34	4	852	4	FGA	4	155506781	Missense_Mutation	SNP	G	TCGA-KL-8342-01A-11D-2310-10	130153527	155506781	35647495	13	39746											
GUCY1A3	2982	broad.mit.edu;mdanderson.org	37	4	156643251	156643251	+	Missense_Mutation	SNP	G	G	A	rs370478508		TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr4:156643251G>A	ENST00000296518.7	+	9	1987	c.1778G>A	c.(1777-1779)cGt>cAt	p.R593H	GUCY1A3_ENST00000511507.1_Missense_Mutation_p.R593H|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.R593H|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.R593H|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.R593H|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.R335H|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.R593H			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	593	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				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)		AAAATGCCCCGTTACTGTCTT	0.423																																																0								G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	229	220	223		1778,1778,1778,1778,1073,1778	5.8	1	4		223	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	GUCY1A3	NM_000856.4,NM_001130682.1,NM_001130683.2,NM_001130684.1,NM_001130685.1,NM_001130687.1	29,29,29,29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	593/691,593/691,593/691,593/691,358/456,593/625	156643251	1,13005	2203	4300	6503	SO:0001583	missense	2982				CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.1778G>A	4.37:g.156643251G>A	ENSP00000296518:p.Arg593His		D3DP19|D6RDW3|O43843|Q8TAH3	Missense_Mutation	SNP	ENST00000296518.7	37	CCDS34085.1	.	.	.	.	.	.	.	.	.	.	G	35	5.572927	0.96553	0.0	1.16E-4	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000393832;ENST00000296518;ENST00000513574	D;D;D;D;D;D;D	0.81908	-1.55;-1.55;-1.55;-1.55;-1.55;-1.55;-1.55	5.82	5.82	0.92795	Adenylyl cyclase class-3/4/guanylyl cyclase, conserved site (1);Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.64402	D	0.000007	D	0.93015	0.7777	M	0.88512	2.96	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93505	0.6848	10	0.87932	D	0	.	20.0945	0.97833	0.0:0.0:1.0:0.0	.	593;593	B3KU69;Q02108	.;GCYA3_HUMAN	H	593;593;593;593;335;593;593	ENSP00000424361:R593H;ENSP00000421493:R593H;ENSP00000426968:R593H;ENSP00000412201:R593H;ENSP00000377418:R335H;ENSP00000296518:R593H;ENSP00000426040:R593H	ENSP00000296518:R593H	R	+	2	0	GUCY1A3	156862701	1.000000	0.71417	0.997000	0.53966	0.977000	0.68977	9.869000	0.99810	2.752000	0.94435	0.585000	0.79938	CGT		0.423	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2			A	156643251	G	A	156643251	3	1	711	1	0	0	0	0	1	0	0	0	6896	1145	40	1	1819	1	GUCY1A3	4	156643251	Missense_Mutation	SNP	G	TCGA-KL-8342-01A-11D-2310-10	1136470	156643251	34511025	14	39747											
HOMER1	9456	broad.mit.edu	37	5	78672018	78672018	+	Silent	SNP	T	T	C			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr5:78672018T>C	ENST00000334082.6	-	9	2321	c.879A>G	c.(877-879)gaA>gaG	p.E293E	HOMER1_ENST00000535690.1_Silent_p.E119E|HOMER1_ENST00000282260.6_Silent_p.E163E|HOMER1_ENST00000508576.1_Missense_Mutation_p.K177R	NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN	homer homolog 1 (Drosophila)	293					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)		GAATTTCTACTTCCTTCAGAA	0.368																																																0													107	97	100					5																	78672018		1836	4081	5917	SO:0001819	synonymous_variant	9456			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.879A>G	5.37:g.78672018T>C			B2R688|O96003|Q86YM5	Missense_Mutation	SNP	ENST00000334082.6	37	CCDS43335.1	.	.	.	.	.	.	.	.	.	.	T	0.016	-1.539029	0.00942	.	.	ENSG00000152413	ENST00000508576	T	0.43688	0.94	5.7	3.22	0.36961	.	.	.	.	.	T	0.27832	0.0685	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.08743	-1.0707	8	0.39692	T	0.17	-17.0933	5.0657	0.14582	0.1337:0.1419:0.0:0.7244	.	177	Q86YM7-3	.	R	177	ENSP00000426651:K177R	ENSP00000426651:K177R	K	-	2	0	HOMER1	78707774	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.946000	0.29069	0.984000	0.38629	0.482000	0.46254	AAG		0.368	HOMER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258856.1	NM_004272		C	78672018	T	C	78672018	2	2	711	1	0	0	0	0	0	0	0	1	7280	1606	56	3		3	HOMER1	5	78672018	Silent	SNP	T	TCGA-KL-8342-01A-11D-2310-10		78672018	102243242	15	39748											
HARS2	23438	broad.mit.edu	37	5	140073223	140073223	+	Silent	SNP	A	A	G			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr5:140073223A>G	ENST00000230771.3	+	2	379	c.156A>G	c.(154-156)aaA>aaG	p.K52K	HARS_ENST00000448240.1_5'Flank|HARS_ENST00000438307.2_5'Flank|HARS_ENST00000307633.3_5'Flank|HARS2_ENST00000502303.1_3'UTR|HARS2_ENST00000448069.2_Intron|HARS_ENST00000415192.2_5'Flank|HARS_ENST00000457527.2_5'Flank|HARS2_ENST00000437649.2_Silent_p.K52K|HARS_ENST00000431330.2_5'Flank|HARS2_ENST00000508522.1_Intron|HARS2_ENST00000432671.2_Silent_p.K52K|HARS2_ENST00000435019.2_Silent_p.K52K|HARS_ENST00000504156.1_5'Flank	NM_012208.2	NP_036340.1	P49590	SYHM_HUMAN	histidyl-tRNA synthetase 2, mitochondrial	52					gene expression (GO:0010467)|histidyl-tRNA aminoacylation (GO:0006427)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|histidine-tRNA ligase activity (GO:0004821)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|large_intestine(5)|lung(10)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCAAGAGAAACCAAATTTTA	0.463																																																0													143	138	139					5																	140073223		2203	4300	6503	SO:0001819	synonymous_variant	23438			U18937	CCDS4238.1, CCDS64267.1	5q31.3	2012-07-20	2012-07-20	2007-02-23	ENSG00000112855	ENSG00000112855	6.1.1.21	"Aminoacyl tRNA synthetases / Class II"	4817	protein-coding gene	gene with protein product	"histidine tRNA ligase 2, mitochondrial (putative)"	600783	"histidyl-tRNA synthetase-like"	HARSL		7755634, 21464306	Standard	NM_012208		Approved	HO3, HARSR	uc003lgx.3	P49590	OTTHUMG00000129500	ENST00000230771.3:c.156A>G	5.37:g.140073223A>G			B4DDY8	Silent	SNP	ENST00000230771.3	37	CCDS4238.1																																																																																				0.463	HARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251670.2	NM_012208		G	140073223	A	G	140073223	2	3	711	1	0	0	0	0	0	0	0	1	6962	40	2	3		3	HARS2	5	140073223	Silent	SNP	A	TCGA-KL-8342-01A-11D-2310-10	61401205	140073223	40842037	16	39749											
PCDHGA2	56113	broad.mit.edu	37	5	140720439	140720439	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr5:140720439A>G	ENST00000394576.2	+	1	1901	c.1901A>G	c.(1900-1902)gAc>gGc	p.D634G	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	634	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(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)			GCCCTGCTGGACAGAGACGCG	0.692																																																0													44	52	49					5																	140720439		2202	4297	6499	SO:0001583	missense	56113			AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"Cadherins / Protocadherins : Clustered"	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.1901A>G	5.37:g.140720439A>G	ENSP00000378077:p.Asp634Gly		Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	16.86	3.238465	0.58886	.	.	ENSG00000081853	ENST00000394576	T	0.65178	-0.14	5.14	5.14	0.70334	Cadherin (4);Cadherin-like (1);	0.000000	0.43747	U	0.000540	T	0.70815	0.3267	L	0.47016	1.485	0.29160	N	0.877806	D;D	0.67145	0.985;0.996	D;D	0.68039	0.913;0.955	T	0.68360	-0.5429	10	0.72032	D	0.01	.	11.8318	0.52299	0.854:0.146:0.0:0.0	.	634;634	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	G	634	ENSP00000378077:D634G	ENSP00000378077:D634G	D	+	2	0	PCDHGA2	140700623	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	4.957000	0.63652	2.093000	0.63338	0.397000	0.26171	GAC		0.692	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		G	140720439	A	G	140720439	3	3	711	1	0	0	0	0	1	0	0	0	11556	275	10	3	1903	3	PCDHGA2	5	140720439	Missense_Mutation	SNP	A	TCGA-KL-8342-01A-11D-2310-10	647216	140720439	40194821	17	39750											
UBLCP1	134510	bcgsc.ca	37	5	158696939	158696939	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr5:158696939A>G	ENST00000296786.6	+	3	504	c.178A>G	c.(178-180)Aag>Gag	p.K60E		NM_145049.3	NP_659486.2	Q8WVY7	UBCP1_HUMAN	ubiquitin-like domain containing CTD phosphatase 1	60	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.					nucleolus (GO:0005730)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)			endometrium(1)|kidney(3)|large_intestine(4)|ovary(1)	9	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAATGATGTTAAGCTTGGAGC	0.363																																																0													92	88	89					5																	158696939		2203	4300	6503	SO:0001583	missense	134510			AK057996	CCDS4345.1	5q33.3	2010-06-21			ENSG00000164332	ENSG00000164332	3.1.3.16	"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	28110	protein-coding gene	gene with protein product	"CTD phosphatase-like with ubiquitin domain 1"	609867				15883030	Standard	NM_145049		Approved	MGC10067, CPUB1	uc003lxq.2	Q8WVY7	OTTHUMG00000130305	ENST00000296786.6:c.178A>G	5.37:g.158696939A>G	ENSP00000296786:p.Lys60Glu		D3DQJ7|Q96DK5	Missense_Mutation	SNP	ENST00000296786.6	37	CCDS4345.1	.	.	.	.	.	.	.	.	.	.	A	8.757	0.922724	0.18056	.	.	ENSG00000164332	ENST00000296786	T	0.73363	-0.74	6.06	6.06	0.98353	Ubiquitin supergroup (1);Ubiquitin (2);	0.000000	0.85682	D	0.000000	T	0.61073	0.2318	L	0.28608	0.87	0.80722	D	1	B	0.28584	0.216	B	0.27887	0.084	T	0.59451	-0.7452	10	0.02654	T	1	-15.8829	16.6245	0.84952	1.0:0.0:0.0:0.0	.	60	Q8WVY7	UBCP1_HUMAN	E	60	ENSP00000296786:K60E	ENSP00000296786:K60E	K	+	1	0	UBLCP1	158629517	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.962000	0.93254	2.323000	0.78572	0.528000	0.53228	AAG		0.363	UBLCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252650.2	NM_145049		G	158696939	A	G	158696939	3	3	711	1	0	0	0	0	1	0	0	0	16896	363	13	3	184	3	UBLCP1	5	158696939	Missense_Mutation	SNP	A	TCGA-KL-8342-01A-11D-2310-10	17976500	158696939	22218321	18	39751											
HLA-DQB1	3119	mdanderson.org	37	6	32634331	32634331	+	Silent	SNP	G	G	C	rs1049058	byFrequency	TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr6:32634331G>C	ENST00000399082.3	-	1	98	c.54C>G	c.(52-54)gtC>gtG	p.V18V	HLA-DQB1_ENST00000399084.1_Silent_p.V18V|HLA-DQB1_ENST00000374943.4_Silent_p.V18V|HLA-DQB1_ENST00000434651.2_Silent_p.V18V|HLA-DQB1_ENST00000399079.3_Silent_p.V18V			P01920	DQB1_HUMAN	major histocompatibility complex, class II, DQ beta 1	18					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|immune response (GO:0006955)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|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)|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)			breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4					"""Insulin(DB00071)"	GCATCAAGGTGACAGTTGCTA	0.577									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia																												Esophageal Squamous(151;720 1825 15000 40336 43415)											0								C		1235,2669		382,471,1099	54	52	53		54	3.2	0	6	dbSNP_86	53	3343,4893		1194,955,1969	no	coding-synonymous	HLA-DQB1	NM_002123.4		1576,1426,3068	CC,CG,GG		40.5901,31.6342,37.71		18/262	32634331	4578,7562	1952	4118	6070	SO:0001819	synonymous_variant	3119	Familial Cancer Database	incl.: Mycosis Fungoides, Sezary syndrome, Adult T-cell Lymphoma;Sjogren syndrome; ;AIMAH, Cushing disease, Adrenal, Familial		CCDS43451.1, CCDS59006.1	6p21.3	2013-01-11			ENSG00000179344	ENSG00000179344		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4944	protein-coding gene	gene with protein product		604305		HLA-DQB			Standard	NM_001243962		Approved	IDDM1, CELIAC1	uc031snw.1	P01920	OTTHUMG00000031124	ENST00000399082.3:c.54C>G	6.37:g.32634331G>C			A1KR27|A2RPH3|A4Q9R4|A4USG2|A4USG5|A6N8I7|A9YQA0|B0S7Y7|B1A0K6|B1GXI3|B3VLT3|B5BLN7|B7VU69|C0MQ34|C0MQ35|C8ZL52|C8ZLJ8|C8ZLJ9|C9DRQ3|O19708|O19713|O19724|O62861|O78046|O78221|O78223|O98034|O98201|P01917|P01918|P01919|P03992|P05537|P79482|P79526|P79544|P79551|Q08GC8|Q09035|Q0E4V9|Q1M312|Q29731|Q29877|Q29884|Q29915|Q29966|Q2P9N3|Q2QK85|Q30061|Q30075|Q30076|Q30080|Q30081|Q30082|Q30083|Q30084|Q30089|Q30095|Q31633|Q38I47|Q45UE3|Q4QZB5|Q53I44|Q564J6|Q5G841|Q5ISH1|Q5ISH3|Q5W1E1|Q5Y7G8|Q643R4|Q6B9X1|Q70VH8|Q7YP69|Q8HWH0|Q8MH58|Q8SNB4|Q8SND1|Q8SP70|Q8WMA3|Q9BD17|Q9MYH2|Q9TPA9|Q9XRY6|Q9XRY7|Q9XRZ2	Silent	SNP	ENST00000399082.3	37																																																																																					0.577	HLA-DQB1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000276131.1	NM_002123		C	32634331	G	C	32634331	2	2	711	1	0	0	0	0	0	0	0	1	7208	1277	45	4		4	HLA-DQB1	6	32634331	Silent	SNP	G	TCGA-KL-8342-01A-11D-2310-10		32634331	138480736	19	39752			1	81		2	2	20	N	T_G	4.173479e-05
HLA-DQB1	3119	bcgsc.ca	37	6	32634350	32634350	+	Missense_Mutation	SNP	T	T	C	rs1049057	byFrequency	TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr6:32634350T>C	ENST00000399082.3	-	1	79	c.35A>G	c.(34-36)gAc>gGc	p.D12G	HLA-DQB1_ENST00000399084.1_Missense_Mutation_p.D12G|HLA-DQB1_ENST00000374943.4_Missense_Mutation_p.D12G|HLA-DQB1_ENST00000434651.2_Missense_Mutation_p.D12G|HLA-DQB1_ENST00000399079.3_Missense_Mutation_p.D12G			P01920	DQB1_HUMAN	major histocompatibility complex, class II, DQ beta 1	12			G -> D (in allele DQB1*05:01, allele DQB1*05:02, allele DQB1*06:02 and allele DQB1*06:12; dbSNP:rs1049057).		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|immune response (GO:0006955)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|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)|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)			breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4					"""Insulin(DB00071)"	TACCCGAAGGTCTCCGGGGAT	0.562									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				t|||	3031	0.605232	0.4818	0.7089	5008	,	,		11450	0.6657		0.5755	False		,,,				2504	0.6667				Esophageal Squamous(151;720 1825 15000 40336 43415)											0								C	GLY/ASP	1428,2438		461,506,966	50	48	49		35	1.7	0	6	dbSNP_86	49	3721,4489		1409,903,1793	yes	missense	HLA-DQB1	NM_002123.4	94	1870,1409,2759	CC,CT,TT		45.3228,36.9374,42.6383	benign	12/262	32634350	5149,6927	1933	4105	6038	SO:0001583	missense	3119	Familial Cancer Database	incl.: Mycosis Fungoides, Sezary syndrome, Adult T-cell Lymphoma;Sjogren syndrome; ;AIMAH, Cushing disease, Adrenal, Familial		CCDS43451.1, CCDS59006.1	6p21.3	2013-01-11			ENSG00000179344	ENSG00000179344		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4944	protein-coding gene	gene with protein product		604305		HLA-DQB			Standard	NM_001243962		Approved	IDDM1, CELIAC1	uc031snw.1	P01920	OTTHUMG00000031124	ENST00000399082.3:c.35A>G	6.37:g.32634350T>C	ENSP00000382032:p.Asp12Gly		A1KR27|A2RPH3|A4Q9R4|A4USG2|A4USG5|A6N8I7|A9YQA0|B0S7Y7|B1A0K6|B1GXI3|B3VLT3|B5BLN7|B7VU69|C0MQ34|C0MQ35|C8ZL52|C8ZLJ8|C8ZLJ9|C9DRQ3|O19708|O19713|O19724|O62861|O78046|O78221|O78223|O98034|O98201|P01917|P01918|P01919|P03992|P05537|P79482|P79526|P79544|P79551|Q08GC8|Q09035|Q0E4V9|Q1M312|Q29731|Q29877|Q29884|Q29915|Q29966|Q2P9N3|Q2QK85|Q30061|Q30075|Q30076|Q30080|Q30081|Q30082|Q30083|Q30084|Q30089|Q30095|Q31633|Q38I47|Q45UE3|Q4QZB5|Q53I44|Q564J6|Q5G841|Q5ISH1|Q5ISH3|Q5W1E1|Q5Y7G8|Q643R4|Q6B9X1|Q70VH8|Q7YP69|Q8HWH0|Q8MH58|Q8SNB4|Q8SND1|Q8SP70|Q8WMA3|Q9BD17|Q9MYH2|Q9TPA9|Q9XRY6|Q9XRY7|Q9XRZ2	Missense_Mutation	SNP	ENST00000399082.3	37		1225	0.5608974358974359	193	0.39227642276422764	236	0.6519337016574586	398	0.6958041958041958	398	0.525065963060686	.	0.021	-1.421267	0.01126	0.369374	0.453228	ENSG00000179344	ENST00000399082;ENST00000399079;ENST00000374943;ENST00000434651;ENST00000399084;ENST00000447884	T;T;T;T;T	0.03386	3.95;8.5;8.5;8.5;8.5	3.59	1.68	0.24146	.	.	.	.	.	T	0.00384	0.0012	.	.	.	0.80722	P	0.0	B;B;B;B	0.09022	0.002;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.0;0.0	T	0.44081	-0.9351	7	0.02654	T	1	.	3.1383	0.06447	0.2174:0.5424:0.0:0.2402	rs1049057;rs3189133;rs9274521;rs12722099;rs16868461	22;12;12;12	Q59F80;A2AAZ0;Q5Y7D6;Q5Y7A9	.;.;.;.	G	12	ENSP00000382032:D12G;ENSP00000382029:D12G;ENSP00000364080:D12G;ENSP00000407332:D12G;ENSP00000382034:D12G	ENSP00000364080:D12G	D	-	2	0	HLA-DQB1	32742328	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.328000	0.19681	0.003000	0.14656	-0.368000	0.07277	GAC		0.562	HLA-DQB1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000276131.1	NM_002123		C	32634350	T	C	32634350	3	2	711	1	0	0	0	0	1	0	0	0	7208	1667	58	3	770	3	HLA-DQB1	6	32634350	Missense_Mutation	SNP	T	TCGA-KL-8342-01A-11D-2310-10	19	32634350	138480717	20	39753			1	81		2	2	20	N	T_G	4.173479e-05
USP45	85015	ucsc.edu	37	6	99930673	99930673	+	Silent	SNP	T	T	C	rs35004033		TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr6:99930673T>C	ENST00000327681.6	-	8	1333	c.801A>G	c.(799-801)aaA>aaG	p.K267K	USP45_ENST00000472914.2_Silent_p.K267K|USP45_ENST00000500704.2_Silent_p.K267K|USP45_ENST00000329966.6_Silent_p.K267K|USP45_ENST00000392738.2_Intron|USP45_ENST00000369233.2_Silent_p.K267K	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	267	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		AAAGTGGTCCTTTTTCAGTCT	0.373																																																0													82	86	84					6																	99930673		2203	4300	6503	SO:0001819	synonymous_variant	85015			AL832030	CCDS34501.1	6q16.2	2008-02-05	2005-08-08		ENSG00000123552	ENSG00000123552		"Ubiquitin-specific peptidases"	20080	protein-coding gene	gene with protein product			"ubiquitin specific protease 45"			12838346	Standard	NM_001080481		Approved	MGC14793	uc003ppx.2	Q70EL2	OTTHUMG00000015267	ENST00000327681.6:c.801A>G	6.37:g.99930673T>C			B2RXG0|Q5T062|Q86T44|Q86TC0|Q9BRU1	Silent	SNP	ENST00000327681.6	37	CCDS34501.1																																																																																				0.373	USP45-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041609.2	NM_032929		C	99930673	T	C	99930673	2	2	711	1	0	0	0	0	0	0	0	1	17081	1606	56	3		3	USP45	6	99930673	Silent	SNP	T	TCGA-KL-8342-01A-11D-2310-10	67296323	99930673	71184394	21	39754											
AHI1	54806	broad.mit.edu	37	6	135787070	135787070	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr6:135787070T>C	ENST00000367800.4	-	5	847	c.631A>G	c.(631-633)Aaa>Gaa	p.K211E	AHI1_ENST00000457866.2_Missense_Mutation_p.K211E|AHI1_ENST00000327035.6_Missense_Mutation_p.K211E	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	211	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)		TCTTTCAGTTTCTTTCTTATT	0.348																																																0													143	135	137					6																	135787070		1846	4105	5951	SO:0001583	missense	54806			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.631A>G	6.37:g.135787070T>C	ENSP00000356774:p.Lys211Glu		E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Missense_Mutation	SNP	ENST00000367800.4	37	CCDS47483.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.703613	0.88924	.	.	ENSG00000135541	ENST00000367800;ENST00000457866;ENST00000265602;ENST00000327035;ENST00000367801;ENST00000524469	T;T;T;T;T	0.72394	1.07;1.07;1.07;1.62;-0.65	5.86	5.86	0.93980	.	0.115474	0.64402	D	0.000018	T	0.80210	0.4581	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	T	0.82604	-0.0375	10	0.87932	D	0	-26.3867	16.5602	0.84551	0.0:0.0:0.0:1.0	.	211;211	Q8N157-2;Q8N157	.;AHI1_HUMAN	E	211;211;211;211;211;193	ENSP00000356774:K211E;ENSP00000388650:K211E;ENSP00000265602:K211E;ENSP00000322478:K211E;ENSP00000433063:K193E	ENSP00000265602:K211E	K	-	1	0	AHI1	135828763	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	5.662000	0.68032	2.367000	0.80283	0.528000	0.53228	AAA		0.348	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1	NM_017651		C	135787070	T	C	135787070	3	2	711	1	0	0	0	0	1	0	0	0	413	1792	62	3	3108	3	AHI1	6	135787070	Missense_Mutation	SNP	T	TCGA-KL-8342-01A-11D-2310-10	35856397	135787070	35327997	22	39755											
PARK2	5071	broad.mit.edu	37	6	162394348	162394348	+	Silent	SNP	C	C	A			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr6:162394348C>A	ENST00000366898.1	-	6	822	c.720G>T	c.(718-720)acG>acT	p.T240T	PARK2_ENST00000366896.1_Silent_p.T91T|PARK2_ENST00000366897.1_Silent_p.T212T|PARK2_ENST00000366892.1_Silent_p.T240T|PARK2_ENST00000366894.1_Silent_p.T49T|PARK2_ENST00000338468.3_Silent_p.T49T	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	240			T -> M (in PARK2). {ECO:0000269|PubMed:12629236}.|T -> R (in PARK2; impairs the ability to ubiquitinate SNCAIP and BCL2; loss of UBE2L3 binding; severely compromises the mitochondrial localization). {ECO:0000269|PubMed:9731209}.		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)		CGTCTGTGCACGTAATGCAAG	0.448																																																0													234	180	198					6																	162394348		2203	4300	6503	SO:0001819	synonymous_variant	5071				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.720G>T	6.37:g.162394348C>A			A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Silent	SNP	ENST00000366898.1	37	CCDS5281.1																																																																																				0.448	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042995.1			A	162394348	C	A	162394348	2	1	711	1	0	0	0	0	0	0	0	1	11451	523	19	4		4	PARK2	6	162394348	Silent	SNP	C	TCGA-KL-8342-01A-11D-2310-10	26607278	162394348	8720719	23	39756											
PILRB	29990	broad.mit.edu;bcgsc.ca	37	7	99956366	99956366	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr7:99956366C>T	ENST00000452089.1	+	7	1177	c.118C>T	c.(118-120)Cac>Tac	p.H40Y	STAG3L5P-PVRIG2P-PILRB_ENST00000310771.4_RNA|PILRB_ENST00000609309.1_Missense_Mutation_p.H40Y|PILRB_ENST00000444073.1_Missense_Mutation_p.H40Y|PILRB_ENST00000448382.1_Intron|PILRB_ENST00000610247.1_Missense_Mutation_p.H40Y			Q9UKJ0	PILRB_HUMAN	paired immunoglobin-like type 2 receptor beta	40	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)					TCAACCAAAACACCTCTCAGC	0.537																																																0													66	70	69					7																	99956366		2199	4294	6493	SO:0001583	missense	29990			AF161081, AJ400845	CCDS43622.1	7q22.1	2014-05-16			ENSG00000121716	ENSG00000121716		"Immunoglobulin superfamily / V-set domain containing"	18297	protein-coding gene	gene with protein product		605342				10660620	Standard	NM_178238		Approved	FDFACT1, FDFACT2	uc022ail.1	Q9UKJ0	OTTHUMG00000155363	ENST00000452089.1:c.118C>T	7.37:g.99956366C>T	ENSP00000391748:p.His40Tyr		Q69YF9|Q9HBS0	Missense_Mutation	SNP	ENST00000452089.1	37	CCDS43622.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.027116	0.00410	.	.	ENSG00000121716	ENST00000310771;ENST00000420688;ENST00000452089;ENST00000457519;ENST00000443526;ENST00000419749;ENST00000422808;ENST00000444073;ENST00000413850;ENST00000438231	T;T;T;T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;1.99	1.83	-1.49	0.08718	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	3.917930	0.00589	N	0.000346	T	0.38026	0.1025	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.13407	0.009	T	0.11036	-1.0604	9	.	.	.	.	3.4261	0.07412	0.438:0.3385:0.2235:0.0	.	40	Q9UKJ0	PILRB_HUMAN	Y	40;40;40;40;40;40;40;40;145;40	ENSP00000311153:H40Y;ENSP00000391748:H40Y;ENSP00000411261:H40Y;ENSP00000403757:H40Y;ENSP00000404321:H40Y;ENSP00000389856:H40Y;ENSP00000410764:H40Y;ENSP00000408425:H40Y	.	H	+	1	0	PILRB	99794302	0.000000	0.05858	0.000000	0.03702	0.114000	0.19823	-1.839000	0.01686	-0.382000	0.07870	0.536000	0.68110	CAC		0.537	PILRB-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339923.2	NM_178238		T	99956366	C	T	99956366	3	4	711	1	0	0	0	0	1	0	0	0	11928	478	17	2	124	2	PILRB	7	99956366	Missense_Mutation	SNP	C	TCGA-KL-8342-01A-11D-2310-10		99956366	59182297	24	39757											
PRSS1	5644	mdanderson.org	37	7	142458409	142458409	+	Missense_Mutation	SNP	C	C	G	rs200665515		TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr7:142458409C>G	ENST00000311737.7	+	2	50	c.44C>G	c.(43-45)gCt>gGt	p.A15G	PRSS1_ENST00000486171.1_Missense_Mutation_p.A15G	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	15					cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	ACTCCAGTTGCTGCCCCCTTT	0.502																																																0													160	163	162					7																	142458409		2203	4300	6503	SO:0001583	missense	5644			M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"Serine peptidases / Serine peptidases"	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.44C>G	7.37:g.142458409C>G	ENSP00000308720:p.Ala15Gly		A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Missense_Mutation	SNP	ENST00000311737.7	37	CCDS5872.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.776823	0.70107	.	.	ENSG00000204983	ENST00000486171;ENST00000311737;ENST00000529243	D;D	0.92752	-3.1;-3.1	3.49	3.49	0.39957	Peptidase cysteine/serine, trypsin-like (1);	0.048314	0.85682	D	0.000000	D	0.91915	0.7440	L	0.46614	1.455	0.51767	D	0.999935	P	0.50943	0.94	P	0.52424	0.698	D	0.92471	0.5985	10	0.56958	D	0.05	.	14.3966	0.67015	0.0:1.0:0.0:0.0	.	15	P07477	TRY1_HUMAN	G	15	ENSP00000417854:A15G;ENSP00000308720:A15G	ENSP00000308720:A15G	A	+	2	0	PRSS1	142137983	1.000000	0.71417	0.112000	0.21494	0.035000	0.12851	4.608000	0.61141	1.879000	0.54435	0.404000	0.27445	GCT		0.502	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2			G	142458409	C	G	142458409	3	3	711	1	0	0	0	0	1	0	0	0	12619	797	28	4	50	4	PRSS1	7	142458409	Missense_Mutation	SNP	C	TCGA-KL-8342-01A-11D-2310-10	42502043	142458409	16680254	25	39758	334	2									
PRSS1	5644	mdanderson.org	37	7	142458412	142458412	+	Missense_Mutation	SNP	C	C	T	rs202003805		TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr7:142458412C>T	ENST00000311737.7	+	2	53	c.47C>T	c.(46-48)gCc>gTc	p.A16V	PRSS1_ENST00000486171.1_Missense_Mutation_p.A16V	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	16			A -> V (in PCTT; disrupts signal sequence cleavage site). {ECO:0000269|PubMed:10381903}.		cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	CCAGTTGCTGCCCCCTTTGAT	0.507																																																0			GRCh37	CM993429	PRSS1	M							161	163	162					7																	142458412		2203	4300	6503	SO:0001583	missense	5644			M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"Serine peptidases / Serine peptidases"	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.47C>T	7.37:g.142458412C>T	ENSP00000308720:p.Ala16Val		A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Missense_Mutation	SNP	ENST00000311737.7	37	CCDS5872.1	.	.	.	.	.	.	.	.	.	.	C	5.455	0.268997	0.10349	.	.	ENSG00000204983	ENST00000486171;ENST00000311737;ENST00000529243	D;D	0.93133	-3.17;-3.17	3.49	0.989	0.19802	Peptidase cysteine/serine, trypsin-like (1);	0.446479	0.27622	N	0.018559	D	0.84197	0.5419	L	0.28054	0.825	0.25694	N	0.985655	B	0.02656	0.0	B	0.06405	0.002	T	0.67027	-0.5774	10	0.11794	T	0.64	.	7.0429	0.25031	0.0:0.2125:0.0:0.7875	.	16	P07477	TRY1_HUMAN	V	16	ENSP00000417854:A16V;ENSP00000308720:A16V	ENSP00000308720:A16V	A	+	2	0	PRSS1	142137986	0.014000	0.17966	0.005000	0.12908	0.025000	0.11179	0.750000	0.26334	0.076000	0.16826	-0.490000	0.04691	GCC		0.507	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2			T	142458412	C	T	142458412	3	4	711	1	0	0	0	0	1	0	0	0	12619	739	26	2	53	2	PRSS1	7	142458412	Missense_Mutation	SNP	C	TCGA-KL-8342-01A-11D-2310-10	3	142458412	16680251	26	39759	334	2									
PPP2R2A	5520	broad.mit.edu	37	8	26196504	26196504	+	Splice_Site	SNP	G	G	T			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr8:26196504G>T	ENST00000380737.3	+	3	509		c.e3+1		PPP2R2A_ENST00000523473.1_Splice_Site|PPP2R2A_ENST00000315985.7_Splice_Site	NM_002717.3	NP_002708.1	P63151	2ABA_HUMAN	protein phosphatase 2, regulatory subunit B, alpha						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)		GGAGCAGGAGGTAAGTGTTTA	0.353																																																0													97	100	99					8																	26196504		2203	4299	6502	SO:0001630	splice_region_variant	5520			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.180+1G>T	8.37:g.26196504G>T			B2RBU8|B4E1T7|P50409|Q00007	Splice_Site	SNP	ENST00000380737.3	37	CCDS34867.1	.	.	.	.	.	.	.	.	.	.	G	19.92	3.916025	0.73098	.	.	ENSG00000221914	ENST00000380737;ENST00000315985	.	.	.	4.93	4.93	0.64822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0703	0.86571	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PPP2R2A	26252421	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.230000	0.95299	2.557000	0.86248	0.591000	0.81541	.		0.353	PPP2R2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375954.2	NM_002717	Intron	T	26196504	G	T	26196504	5	4	711	1	0	0	0	0	0	0	1	0	12389	1275	44	4	232	4	PPP2R2A	8	26196504	Splice_Site	SNP	G	TCGA-KL-8342-01A-11D-2310-10		26196504	120167518	27	39760											
GDF6	392255	bcgsc.ca	37	8	97172838	97172838	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr8:97172838A>G	ENST00000287020.5	-	1	182	c.83T>C	c.(82-84)aTc>aCc	p.I28T		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	28	Poly-Ser.				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)					GGAGGATGAGATGGAAGCCTG	0.642																																																0													52	60	57					8																	97172838		2203	4300	6503	SO:0001583	missense	392255				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.83T>C	8.37:g.97172838A>G	ENSP00000287020:p.Ile28Thr		Q6PI58	Missense_Mutation	SNP	ENST00000287020.5	37	CCDS34926.1	.	.	.	.	.	.	.	.	.	.	A	18.96	3.734736	0.69189	.	.	ENSG00000156466	ENST00000287020;ENST00000454970;ENST00000435084	D	0.85013	-1.93	4.34	4.34	0.51931	.	8.071360	0.00639	N	0.000509	D	0.86268	0.5892	N	0.14661	0.345	0.38158	D	0.938942	D	0.69078	0.997	P	0.60789	0.879	T	0.75328	-0.3356	10	0.54805	T	0.06	.	11.0331	0.47785	1.0:0.0:0.0:0.0	.	28	Q6KF10	GDF6_HUMAN	T	28	ENSP00000287020:I28T	ENSP00000287020:I28T	I	-	2	0	GDF6	97242014	1.000000	0.71417	0.992000	0.48379	0.750000	0.42670	7.816000	0.86201	1.585000	0.49928	0.421000	0.28195	ATC		0.642	GDF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379862.2	NM_001001557		G	97172838	A	G	97172838	3	3	711	1	0	0	0	0	1	0	0	0	6319	333	12	3	1292	3	GDF6	8	97172838	Missense_Mutation	SNP	A	TCGA-KL-8342-01A-11D-2310-10	70976334	97172838	49191184	28	39761											
FAM120A	23196	broad.mit.edu	37	9	96233575	96233576	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr9:96233575_96233576insA	ENST00000277165.6	+	2	821_822	c.627_628insA	c.(628-630)aaafs	p.K210fs	FAM120A_ENST00000375389.3_Frame_Shift_Ins_p.K210fs|FAM120A_ENST00000340893.4_Frame_Shift_Ins_p.K210fs|FAM120A_ENST00000333936.5_Frame_Shift_Ins_p.K210fs	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	210						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						GCCGGAACGGGAAAAGTCTCAC	0.46																																																0																																										SO:0001589	frameshift_variant	23196			AF214737	CCDS6706.1, CCDS75859.1	9q22.31	2013-03-08	2006-07-04	2006-07-04	ENSG00000048828	ENSG00000048828			13247	protein-coding gene	gene with protein product	"DNA polymerase-transactivated protein 1", "oxidative stess-associated Src activator"	612265	"chromosome 9 open reading frame 10"	C9orf10		14585507	Standard	NM_001286722		Approved	KIAA0183, DNAPTP1, OSSA	uc004atw.3	Q9NZB2	OTTHUMG00000020252	ENST00000277165.6:c.631dupA	9.37:g.96233579_96233579dupA	ENSP00000277165:p.Lys210fs		A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Frame_Shift_Ins	INS	ENST00000277165.6	37	CCDS6706.1																																																																																				0.46	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053160.2	NM_014612		A	96233576	-	A	96233575	7	5	711	1	0	1	1	0	0	0	0	0	5417	1161	41	0	633	0	FAM120A	9	96233575	Frame_Shift_Ins	INS	-	TCGA-KL-8342-01A-11D-2310-10		96233575	44979856	29	39762											
ZCCHC24	219654	ucsc.edu;bcgsc.ca	37	10	81205166	81205166	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr10:81205166C>T	ENST00000372336.3	-	1	217	c.31G>A	c.(31-33)Gcc>Acc	p.A11T	ZCCHC24_ENST00000372333.3_5'Flank	NM_153367.3	NP_699198.2	Q8N2G6	ZCH24_HUMAN	zinc finger, CCHC domain containing 24	11							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)	9						ACCGAGGCGGCGCTCGTGTCG	0.741																																																0													8	9	8					10																	81205166		2142	4227	6369	SO:0001583	missense	219654			AK075279	CCDS7359.1	10q22.3	2014-02-20	2008-06-23	2008-06-23	ENSG00000165424	ENSG00000165424		"Zinc fingers, CCHC domain containing"	26911	protein-coding gene	gene with protein product	"zinc finger, 3CxxC-type 8"		"chromosome 10 open reading frame 56"	C10orf56		12477932	Standard	NM_153367		Approved	FLJ90798, Z3CXXC8	uc010qlr.2	Q8N2G6	OTTHUMG00000018561	ENST00000372336.3:c.31G>A	10.37:g.81205166C>T	ENSP00000361411:p.Ala11Thr		Q5U5T9|Q8TAG0	Missense_Mutation	SNP	ENST00000372336.3	37	CCDS7359.1	.	.	.	.	.	.	.	.	.	.	C	18.47	3.630355	0.67015	.	.	ENSG00000165424	ENST00000372336	T	0.47177	0.85	3.22	3.22	0.36961	.	.	.	.	.	T	0.29716	0.0742	N	0.17082	0.46	0.80722	D	1	B	0.09022	0.002	B	0.04013	0.001	T	0.12889	-1.0530	9	0.49607	T	0.09	-15.0989	8.6306	0.33917	0.0:0.8916:0.0:0.1084	.	11	Q8N2G6	ZCH24_HUMAN	T	11	ENSP00000361411:A11T	ENSP00000361411:A11T	A	-	1	0	ZCCHC24	80875172	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.636000	0.46545	1.645000	0.50612	0.313000	0.20887	GCC		0.741	ZCCHC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048947.1	NM_153367		T	81205166	C	T	81205166	3	4	711	1	0	0	0	0	1	0	0	0	17593	768	27	1	710	1	ZCCHC24	10	81205166	Missense_Mutation	SNP	C	TCGA-KL-8342-01A-11D-2310-10		81205166	54329581	30	39763											
LDB3	11155	broad.mit.edu	37	10	88476140	88476140	+	Missense_Mutation	SNP	A	A	C	rs143163993|rs397517209		TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr10:88476140A>C	ENST00000361373.4	+	9	1309	c.1288A>C	c.(1288-1290)Acc>Ccc	p.T430P	LDB3_ENST00000263066.6_Missense_Mutation_p.T320P|LDB3_ENST00000429277.2_Missense_Mutation_p.T435P|LDB3_ENST00000458213.2_Missense_Mutation_p.T320P|LDB3_ENST00000352360.5_Missense_Mutation_p.T173P	NM_007078.2	NP_009009.1			LIM domain binding 3											breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						CACTCCCTAcaccccctcccc	0.602																																																0													36	35	35					10																	88476140		2203	4300	6503	SO:0001583	missense	11155			AB014513	CCDS7377.1, CCDS41544.1, CCDS41545.1, CCDS53549.1, CCDS53550.1	10q22.3-q23.2	2014-09-17			ENSG00000122367	ENSG00000122367			15710	protein-coding gene	gene with protein product	"cypher", "oracle", "Z-band alternatively spliced PDZ motif protein"	605906	"cardiomyopathy, dilated 1C (autosomal dominant)"	CMD1C		10427098, 23271734, 23996002, 14662268	Standard	NM_001080114		Approved	PDLIM6, KIAA0613, ZASP	uc001kdv.3	O75112	OTTHUMG00000018655	ENST00000361373.4:c.1288A>C	10.37:g.88476140A>C	ENSP00000355296:p.Thr430Pro			Missense_Mutation	SNP	ENST00000361373.4	37	CCDS7377.1	.	.	.	.	.	.	.	.	.	.	A	4.643	0.119583	0.08881	.	.	ENSG00000122367	ENST00000429277;ENST00000458213;ENST00000352360;ENST00000263066;ENST00000361373	T;T;T;T;T	0.54479	0.81;0.65;0.61;0.65;0.57	2.34	2.34	0.29019	.	0.000000	0.33401	N	0.004943	T	0.39733	0.1089	L	0.47716	1.5	0.35739	D	0.818567	D;B;D;B;B	0.59357	0.985;0.009;0.983;0.006;0.0	B;B;B;B;B	0.42319	0.336;0.009;0.383;0.01;0.0	T	0.46555	-0.9183	10	0.29301	T	0.29	.	6.4634	0.21968	1.0:0.0:0.0:0.0	.	435;367;173;430;320	B4E3K3;F5H0C2;O75112-3;O75112;O75112-2	.;.;.;LDB3_HUMAN;.	P	435;320;173;320;430	ENSP00000401437:T435P;ENSP00000409148:T320P;ENSP00000263067:T173P;ENSP00000263066:T320P;ENSP00000355296:T430P	ENSP00000263066:T320P	T	+	1	0	LDB3	88466120	0.976000	0.34144	0.833000	0.33012	0.146000	0.21551	2.252000	0.43196	1.055000	0.40461	0.240000	0.17902	ACC		0.602	LDB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049160.2			C	88476140	A	C	88476140	3	2	711	1	0	0	0	0	1	0	0	0	8699	159	6	5	1658	5	LDB3	10	88476140	Missense_Mutation	SNP	A	TCGA-KL-8342-01A-11D-2310-10	7270974	88476140	47058607	31	39764											
MUC6	4588	mdanderson.org	37	11	1016684	1016684	+	Silent	SNP	G	G	A			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr11:1016684G>A	ENST00000421673.2	-	31	6167	c.6117C>T	c.(6115-6117)caC>caT	p.H2039H		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2039	Thr-rich.				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)		TTGGCGTTGAGTGGATGGAGG	0.577																																																0													547	509	522					11																	1016684		2203	4294	6497	SO:0001819	synonymous_variant	4588			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.6117C>T	11.37:g.1016684G>A			O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	CCDS44513.1																																																																																				0.577	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		A	1016684	G	A	1016684	2	1	711	1	0	0	0	0	0	0	0	1	9982	1020	36	2		2	MUC6	11	1016684	Silent	SNP	G	TCGA-KL-8342-01A-11D-2310-10		1016684	133989832	32	39765											
MUC5B	727897	mdanderson.org	37	11	1258240	1258241	+	Missense_Mutation	DNP	CA	CA	TG	rs79773885|rs77287508		TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	CA	CA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr11:1258240_1258241CA>TG	ENST00000529681.1	+	25	3201_3202	c.3143_3144CA>TG	c.(3142-3144)gCA>gTG	p.A1048V	MUC5B_ENST00000447027.1_Missense_Mutation_p.A1051V	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1048	VWFD 3. {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)		GTGGGGGACGCACTGGAGTTTG	0.668																																																0																																										SO:0001583	missense	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		Exception_encountered	11.37:g.1258240_1258241delinsTG	ENSP00000436812:p.Ala1048Val		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	DNP	ENST00000529681.1	37	CCDS44515.2																																																																																				0.668	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		TG	1258241	CA	TG	1258240	3	4	711	1	0	0	0	0	1	0	0	0	9981	710	25	2	3250	2	MUC5B	11	1258240	Missense_Mutation	DNP	CA	TCGA-KL-8342-01A-11D-2310-10	241556	1258240	133748276	33	39766											
DPAGT1	1798	mdanderson.org	37	11	118967931	118967931	+	Missense_Mutation	SNP	A	A	C			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr11:118967931A>C	ENST00000409993.2	-	10	2633	c.1082T>G	c.(1081-1083)aTg>aGg	p.M361R	DPAGT1_ENST00000432443.2_Missense_Mutation_p.M254R|H2AFX_ENST00000530167.1_5'Flank|DPAGT1_ENST00000354202.4_Missense_Mutation_p.M361R			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	361					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)		GATGAGGGTCATGTTGTTACA	0.502																																																0													311	303	306					11																	118967931		2200	4295	6495	SO:0001583	missense	1798			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.1082T>G	11.37:g.118967931A>C	ENSP00000386597:p.Met361Arg		O15216|Q86WV9|Q9BWE6	Missense_Mutation	SNP	ENST00000409993.2	37	CCDS8411.1	.	.	.	.	.	.	.	.	.	.	A	15.61	2.884402	0.51908	.	.	ENSG00000172269	ENST00000409993;ENST00000354202;ENST00000432443	D;D;D	0.91945	-2.94;-2.94;-2.85	5.38	5.38	0.77491	.	0.036633	0.85682	D	0.000000	D	0.92257	0.7544	M	0.84948	2.725	0.80722	D	1	P;B	0.38300	0.626;0.129	B;B	0.35859	0.212;0.206	D	0.93176	0.6570	10	0.87932	D	0	-23.1756	14.3688	0.66826	1.0:0.0:0.0:0.0	.	254;361	E7EW40;Q9H3H5	.;GPT_HUMAN	R	361;361;254	ENSP00000386597:M361R;ENSP00000346142:M361R;ENSP00000404036:M254R	ENSP00000346142:M361R	M	-	2	0	DPAGT1	118473141	1.000000	0.71417	1.000000	0.80357	0.613000	0.37349	8.734000	0.91543	2.254000	0.74563	0.533000	0.62120	ATG		0.502	DPAGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331527.2	NM_001382		C	118967931	A	C	118967931	3	2	711	1	0	0	0	0	1	0	0	0	4712	217	8	5	152	5	DPAGT1	11	118967931	Missense_Mutation	SNP	A	TCGA-KL-8342-01A-11D-2310-10	117709691	118967931	16038585	34	39767											
DIP2B	57609	broad.mit.edu	37	12	51072520	51072520	+	Silent	SNP	A	A	G			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr12:51072520A>G	ENST00000301180.5	+	8	1009	c.975A>G	c.(973-975)aaA>aaG	p.K325K		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	325						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						CCCCTGTGAAAGGAGAGCCTT	0.537																																																0													81	73	75					12																	51072520		2203	4300	6503	SO:0001819	synonymous_variant	57609			AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.975A>G	12.37:g.51072520A>G			Q6B011|Q8N1L5|Q8NB38	Silent	SNP	ENST00000301180.5	37	CCDS31799.1																																																																																				0.537	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602		G	51072520	A	G	51072520	2	3	711	1	0	0	0	0	0	0	0	1	4530	69	3	3		3	DIP2B	12	51072520	Silent	SNP	A	TCGA-KL-8342-01A-11D-2310-10		51072520	82779375	35	39768											
ERBB3	2065	hgsc.bcm.edu;mdanderson.org	37	12	56491706	56491706	+	Silent	SNP	G	G	A			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr12:56491706G>A	ENST00000267101.3	+	21	3038	c.2598G>A	c.(2596-2598)ctG>ctA	p.L866L	ERBB3_ENST00000553131.1_Silent_p.L107L|ERBB3_ENST00000549832.1_5'Flank|ERBB3_ENST00000415288.2_Silent_p.L807L|ERBB3_ENST00000450146.2_Silent_p.L223L	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	866	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			ATAAGCAGCTGCTATACAGTG	0.567																																																0													111	94	100					12																	56491706		2203	4300	6503	SO:0001819	synonymous_variant	2065			M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"lethal congenital contracture syndrome 2"	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.2598G>A	12.37:g.56491706G>A			A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Silent	SNP	ENST00000267101.3	37	CCDS31833.1																																																																																				0.567	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			A	56491706	G	A	56491706	2	1	711	1	0	0	0	0	0	0	0	1	5210	1306	46	2		2	ERBB3	12	56491706	Silent	SNP	G	TCGA-KL-8342-01A-11D-2310-10	5419186	56491706	77360189	36	39769											
GNS	2799	broad.mit.edu	37	12	65115476	65115476	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr12:65115476G>A	ENST00000258145.3	-	12	1488	c.1318C>T	c.(1318-1320)Cca>Tca	p.P440S	GNS_ENST00000542058.1_Missense_Mutation_p.P420S|GNS_ENST00000543646.1_Missense_Mutation_p.P472S|GNS_ENST00000418919.2_Missense_Mutation_p.P384S	NM_002076.3	NP_002067.1	P15586	GNS_HUMAN	glucosamine (N-acetyl)-6-sulfatase	440					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)|sulfuric ester hydrolase activity (GO:0008484)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(4)	15	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)		ACACAGTCTGGGAAGCATTGC	0.418																																																0													143	120	127					12																	65115476		2203	4300	6503	SO:0001583	missense	2799				CCDS8970.1	12q14	2010-05-04	2008-08-01		ENSG00000135677	ENSG00000135677	3.1.6.14		4422	protein-coding gene	gene with protein product	"Sanfilippo disease IIID", "N-acetylglucosamine-6-sulfatase"	607664					Standard	NM_002076		Approved		uc001ssg.4	P15586	OTTHUMG00000168819	ENST00000258145.3:c.1318C>T	12.37:g.65115476G>A	ENSP00000258145:p.Pro440Ser		B4DYH8|Q53F05	Missense_Mutation	SNP	ENST00000258145.3	37	CCDS8970.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.5|29.5	5.010550|5.010550	0.93346|0.93346	.|.	.|.	ENSG00000135677|ENSG00000135677	ENST00000540196|ENST00000418919;ENST00000258145;ENST00000543646;ENST00000542058;ENST00000539825	.|T;T;T;T	.|0.64803	.|-0.12;-0.12;-0.12;-0.12	5.71|5.71	5.71|5.71	0.89125|0.89125	.|Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.78861|0.78861	0.4350|0.4350	M|M	0.69358|0.69358	2.11|2.11	0.80722|0.80722	D|D	1|1	.|P;D;P;D	.|0.89917	.|0.883;1.0;0.885;0.981	.|P;D;P;P	.|0.81914	.|0.718;0.995;0.688;0.871	T|T	0.76242|0.76242	-0.3031|-0.3031	6|9	.|.	.|.	.|.	-15.0115|-15.0115	20.2469|20.2469	0.98398|0.98398	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|420;472;440;384	.|B4DYH8;F6S8M0;P15586;Q7Z3X3	.|.;.;GNS_HUMAN;.	L|S	225|384;440;472;420;357	.|ENSP00000413130:P384S;ENSP00000258145:P440S;ENSP00000438497:P472S;ENSP00000444819:P420S	.|.	P|P	-|-	2|1	0|0	GNS|GNS	63401743|63401743	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.954000|0.954000	0.61252|0.61252	9.725000|9.725000	0.98778|0.98778	2.873000|2.873000	0.98535|0.98535	0.561000|0.561000	0.74099|0.74099	CCC|CCA		0.418	GNS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401195.2			A	65115476	G	A	65115476	3	1	711	1	0	0	0	0	1	0	0	0	6552	1232	43	2	352	2	GNS	12	65115476	Missense_Mutation	SNP	G	TCGA-KL-8342-01A-11D-2310-10	8623770	65115476	68736419	37	39770											
PHLDA1	22822	hgsc.bcm.edu	37	12	76424940	76424940	+	Silent	SNP	C	C	T	rs549868413|rs57875368|rs111754051|rs71716769|rs80344196|rs398020175	byFrequency	TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr12:76424940C>T	ENST00000266671.5	-	1	2772	c.582G>A	c.(580-582)caG>caA	p.Q194Q	RP11-290L1.2_ENST00000547721.1_RNA|PHLDA1_ENST00000602540.1_Silent_p.Q53Q|RP11-290L1.3_ENST00000552367.1_RNA			Q8WV24	PHLA1_HUMAN	pleckstrin homology-like domain, family A, member 1	194	PH.|Poly-Gln.				apoptotic process (GO:0006915)|FasL biosynthetic process (GO:0045210)|forebrain neuron differentiation (GO:0021879)|positive regulation of apoptotic process (GO:0043065)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	14		Colorectal(145;0.09)				gctgctgttgctgctgctgct	0.652																																																0													4	4	4					12																	76424940		2019	3942	5961	SO:0001819	synonymous_variant	22822			Z50194	CCDS31861.1	12q15	2008-08-05				ENSG00000139289			8933	protein-coding gene	gene with protein product	"proline-histidine rich protein"	605335				12384558, 15037619	Standard	NM_007350		Approved	TDAG51, DT1P1B11, PHRIP	uc001sxu.3	Q8WV24		ENST00000266671.5:c.582G>A	12.37:g.76424940C>T			A1A4G9|Q15184|Q2TAN2|Q9NZ17	Silent	SNP	ENST00000266671.5	37	CCDS31861.1																																																																																				0.652	PHLDA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405846.2	NM_007350		T	76424940	C	T	76424940	2	4	711	1	0	0	0	0	0	0	0	1	11850	796	28	2		2	PHLDA1	12	76424940	Silent	SNP	C	TCGA-KL-8342-01A-11D-2310-10	11309464	76424940	57426955	38	39771											
NAA30	122830	broad.mit.edu	37	14	57863498	57863498	+	Missense_Mutation	SNP	C	C	T	rs369695420		TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr14:57863498C>T	ENST00000556492.1	+	3	954	c.800C>T	c.(799-801)gCc>gTc	p.A267V	NAA30_ENST00000554703.1_Missense_Mutation_p.A9V|NAA30_ENST00000555166.1_Missense_Mutation_p.A9V	NM_001011713.2	NP_001011713.2	Q147X3	NAA30_HUMAN	N(alpha)-acetyltransferase 30, NatC catalytic subunit	267	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				metabolic process (GO:0008152)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)	peptide alpha-N-acetyltransferase activity (GO:0004596)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	13						TGTGTAGGTGCCATCGTTTGC	0.413																																																0													237	207	217					14																	57863498		2203	4300	6503	SO:0001583	missense	122830			AK092674	CCDS32088.1	14q22.2	2010-05-07	2010-01-14	2010-01-14		ENSG00000139977	2.3.1.88	"N(alpha)-acetyltransferase subunits"	19844	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 35", "N-acetyltransferase 12", "N-acetyltransferase 12 (GCN5-related, putative)"	C14orf35, NAT12		19660095	Standard	NM_001011713		Approved	FLJ35355, MAK3, Mak3p	uc001xcx.4	Q147X3		ENST00000556492.1:c.800C>T	14.37:g.57863498C>T	ENSP00000452521:p.Ala267Val		Q0IIN2	Missense_Mutation	SNP	ENST00000556492.1	37	CCDS32088.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.96|15.96	2.987974|2.987974	0.53934|0.53934	.|.	.|.	ENSG00000139977|ENSG00000139977	ENST00000555166;ENST00000556492;ENST00000554703;ENST00000395257|ENST00000298406	T;T;T|.	0.23147|.	1.92;1.92;1.92|.	5.89|5.89	5.89|5.89	0.94794|0.94794	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.49898|0.49898	0.1584|0.1584	N|N	0.11201|0.11201	0.11|0.11	0.80722|0.80722	D|D	1|1	B|.	0.20052|.	0.041|.	B|.	0.28139|.	0.086|.	T|T	0.43261|0.43261	-0.9402|-0.9402	10|5	0.22109|.	T|.	0.4|.	-2.6585|-2.6585	20.2618|20.2618	0.98447|0.98447	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	267|.	Q147X3|.	NAA30_HUMAN|.	V|S	9;267;9;230|79	ENSP00000450939:A9V;ENSP00000452521:A267V;ENSP00000451255:A9V|.	ENSP00000298406:A267V|.	A|P	+|+	2|1	0|0	NAA30|NAA30	56933251|56933251	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.814000|7.814000	0.86154|0.86154	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	GCC|CCA		0.413	NAA30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412925.1	NM_001011713		T	57863498	C	T	57863498	3	4	711	1	0	0	0	0	1	0	0	0	10124	739	26	2	806	2	NAA30	14	57863498	Missense_Mutation	SNP	C	TCGA-KL-8342-01A-11D-2310-10		57863498	49486042	39	39772											
FMN1	342184	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	15	33359287	33359287	+	Intron	SNP	C	C	T			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr15:33359287C>T	ENST00000559047.1	-	3	2043				FMN1_ENST00000559150.1_Intron|FMN1_ENST00000334528.9_Missense_Mutation_p.G267R|FMN1_ENST00000561249.1_Intron|FMN1_ENST00000558197.1_Missense_Mutation_p.G267R			Q68DA7	FMN1_HUMAN	formin 1						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)		GACTTCTCTCCAGAGACTTCT	0.493																																																0													76	78	77					15																	33359287		1888	4134	6022	SO:0001627	intron_variant	342184			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.2044-2012G>A	15.37:g.33359287C>T			Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP	ENST00000559047.1	37		.	.	.	.	.	.	.	.	.	.	C	13.10	2.136600	0.37728	.	.	ENSG00000248905	ENST00000334528	T	0.40225	1.04	5.59	5.59	0.84812	.	.	.	.	.	T	0.46521	0.1397	.	.	.	.	.	.	D;D	0.56746	0.977;0.96	P;P	0.56648	0.803;0.509	T	0.51052	-0.8754	7	0.18710	T	0.47	.	9.5269	0.39169	0.0:0.8054:0.0:0.1946	.	267;267	Q68DA7-3;Q68DA7-5	.;.	R	267	ENSP00000333950:G267R	ENSP00000333950:G267R	G	-	1	0	FMN1	31146579	0.427000	0.25514	0.990000	0.47175	0.797000	0.45037	2.091000	0.41691	2.645000	0.89757	0.655000	0.94253	GGA		0.493	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184		T	33359287	C	T	33359287	1	4	711	0	1	0	0	0	0	0	0	0	5951	603	21	2		2	FMN1	15	33359287	Intron	SNP	C	TCGA-KL-8342-01A-11D-2310-10		33359287	69172105	40	39773											
WDR72	256764	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	15	53997272	53997272	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr15:53997272A>G	ENST00000396328.1	-	11	1500	c.1261T>C	c.(1261-1263)Tgt>Cgt	p.C421R	WDR72_ENST00000559418.1_Missense_Mutation_p.C431R|WDR72_ENST00000557913.1_Missense_Mutation_p.C418R|WDR72_ENST00000360509.5_Missense_Mutation_p.C421R	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	421										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)		TCACAGCCACATATTAGTTTA	0.393																																																0													130	130	130					15																	53997272		2194	4293	6487	SO:0001583	missense	256764			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.1261T>C	15.37:g.53997272A>G	ENSP00000379619:p.Cys421Arg		Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	A	19.68	3.872904	0.72180	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.17054	2.3;2.3	5.66	5.66	0.87406	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);	0.000000	0.85682	D	0.000000	T	0.43144	0.1234	M	0.78049	2.395	0.80722	D	1	D	0.76494	0.999	D	0.68192	0.956	T	0.42430	-0.9452	10	0.87932	D	0	.	15.0651	0.71986	1.0:0.0:0.0:0.0	.	421	Q3MJ13	WDR72_HUMAN	R	421	ENSP00000379619:C421R;ENSP00000353699:C421R	ENSP00000353699:C421R	C	-	1	0	WDR72	51784564	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.176000	0.77643	2.158000	0.67659	0.377000	0.23210	TGT		0.393	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		G	53997272	A	G	53997272	3	3	711	1	0	0	0	0	1	0	0	0	17327	217	8	3	2087	3	WDR72	15	53997272	Missense_Mutation	SNP	A	TCGA-KL-8342-01A-11D-2310-10	20637985	53997272	48534120	41	39774											
VPS13C	54832	broad.mit.edu	37	15	62243167	62243167	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr15:62243167delG	ENST00000261517.5	-	40	4586	c.4513delC	c.(4513-4515)cttfs	p.L1506fs	VPS13C_ENST00000249837.3_Frame_Shift_Del_p.L1463fs|VPS13C_ENST00000395896.4_Frame_Shift_Del_p.L1506fs|VPS13C_ENST00000395898.3_Frame_Shift_Del_p.L1463fs	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						ATTTTCAGAAGGGGTTCGTCA	0.289																																																0													46	46	46					15																	62243167		2202	4295	6497	SO:0001589	frameshift_variant	54832			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"vacuolar protein sorting 13C (yeast)"				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.4513delC	15.37:g.62243167delG	ENSP00000261517:p.Leu1506fs			Frame_Shift_Del	DEL	ENST00000261517.5	37	CCDS32257.1																																																																																				0.289	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		-	62243167	G	-	62243167	7	5	711	1	0	1	0	1	0	0	0	0	17196	1000	35	0	6960	0	VPS13C	15	62243167	Frame_Shift_Del	DEL	G	TCGA-KL-8342-01A-11D-2310-10	8245895	62243167	40288225	42	39775											
C15orf39	56905	broad.mit.edu	37	15	75503149	75503149	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr15:75503149G>A	ENST00000360639.2	+	3	3156	c.2836G>A	c.(2836-2838)Gag>Aag	p.E946K	C15orf39_ENST00000567617.1_3'UTR|RP11-69H7.3_ENST00000563568.1_RNA|C15orf39_ENST00000394987.4_Missense_Mutation_p.E946K			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	946						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						GGCCAGAGGTGAGCCAGAGAG	0.617																																																0													59	55	56					15																	75503149		2197	4295	6492	SO:0001583	missense	56905			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.2836G>A	15.37:g.75503149G>A	ENSP00000353854:p.Glu946Lys		B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	Missense_Mutation	SNP	ENST00000360639.2	37	CCDS10276.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.726790	0.48833	.	.	ENSG00000167173	ENST00000360639;ENST00000394987;ENST00000446981	T;T	0.20881	2.04;2.04	4.24	3.32	0.38043	.	0.152597	0.42548	D	0.000685	T	0.30696	0.0773	L	0.32530	0.975	0.80722	D	1	D	0.67145	0.996	D	0.76071	0.987	T	0.03981	-1.0987	10	0.87932	D	0	-18.6968	8.1981	0.31409	0.111:0.0:0.889:0.0	.	946	Q6ZRI6	CO039_HUMAN	K	946;946;344	ENSP00000353854:E946K;ENSP00000378438:E946K	ENSP00000353854:E946K	E	+	1	0	C15orf39	73290202	0.978000	0.34361	0.582000	0.28627	0.232000	0.25224	1.964000	0.40462	1.135000	0.42183	0.462000	0.41574	GAG		0.617	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286410.1	NM_015492		A	75503149	G	A	75503149	3	1	711	1	0	0	0	0	1	0	0	0	1795	1291	45	2	2842	2	C15orf39	15	75503149	Missense_Mutation	SNP	G	TCGA-KL-8342-01A-11D-2310-10	13259982	75503149	27028243	43	39776											
ADAMTS7	11173	hgsc.bcm.edu	37	15	79058942	79058944	+	In_Frame_Del	DEL	GCA	GCA	-	rs529497330|rs201562030|rs543268667	byFrequency	TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	GCA	GCA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr15:79058942_79058944delGCA	ENST00000388820.4	-	19	3519_3521	c.3309_3311delTGC	c.(3307-3312)gctgcg>gcg	p.1103_1104AA>A	ADAMTS7_ENST00000566303.1_5'Flank	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1103					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						CGTGGAGGGCGCAGCAGGATGGC	0.675																																																0																																										SO:0001651	inframe_deletion	11173			AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"ADAM metallopeptidases with thrombospondin type 1 motif"	223	protein-coding gene	gene with protein product	"COMPase", "a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"	605009	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.3309_3311delTGC	15.37:g.79058945_79058947delGCA	ENSP00000373472:p.Ala1104del		Q14F51|Q6P7J9	In_Frame_Del	DEL	ENST00000388820.4	37	CCDS32303.1																																																																																				0.675	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		-	79058944	GCA	-	79058942	7	5	711	1	0	1	0	1	0	0	0	0	271	1087	38	0	1773	0	ADAMTS7	15	79058942	In_Frame_Del	DEL	GCA	TCGA-KL-8342-01A-11D-2310-10	3555793	79058942	23472450	44	39777											
ADAMTS17	170691	broad.mit.edu;mdanderson.org;bcgsc.ca	37	15	100672306	100672306	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr15:100672306C>T	ENST00000268070.4	-	12	1732	c.1627G>A	c.(1627-1629)Gac>Aac	p.D543N	RP11-90E5.1_ENST00000560128.1_RNA	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	543	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)		CAGTCTCCGTCCACATGCTCC	0.667											OREG0023513	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													35	37	36					15																	100672306		2203	4300	6503	SO:0001583	missense	170691			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.1627G>A	15.37:g.100672306C>T	ENSP00000268070:p.Asp543Asn	1353	Q2I7G4|Q6ZN75	Missense_Mutation	SNP	ENST00000268070.4	37	CCDS10383.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.649654	0.87958	.	.	ENSG00000140470	ENST00000268070;ENST00000378898	T	0.20069	2.1	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.33498	0.0865	L	0.45581	1.43	0.80722	D	1	P;D	0.59767	0.731;0.986	B;P	0.53266	0.371;0.722	T	0.02301	-1.1180	10	0.48119	T	0.1	.	18.8106	0.92056	0.0:1.0:0.0:0.0	.	300;543	Q8TE56-2;Q8TE56	.;ATS17_HUMAN	N	543;300	ENSP00000268070:D543N	ENSP00000268070:D543N	D	-	1	0	ADAMTS17	98489829	1.000000	0.71417	0.998000	0.56505	0.822000	0.46500	7.194000	0.77789	2.423000	0.82170	0.561000	0.74099	GAC		0.667	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057		T	100672306	C	T	100672306	3	4	711	1	0	0	0	0	1	0	0	0	262	855	30	2	1704	2	ADAMTS17	15	100672306	Missense_Mutation	SNP	C	TCGA-KL-8342-01A-11D-2310-10	21613364	100672306	1859086	45	39778											
TSC2	7249	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	16	2129290	2129290	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr16:2129290G>A	ENST00000219476.3	+	28	3775	c.3145G>A	c.(3145-3147)Gag>Aag	p.E1049K	TSC2_ENST00000350773.4_Missense_Mutation_p.E1049K|TSC2_ENST00000568454.1_Missense_Mutation_p.E1016K|TSC2_ENST00000401874.2_Missense_Mutation_p.E1005K|TSC2_ENST00000568366.1_3'UTR|TSC2_ENST00000439673.2_Missense_Mutation_p.E969K|TSC2_ENST00000382538.6_Missense_Mutation_p.E957K|TSC2_ENST00000353929.4_Missense_Mutation_p.E1006K	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1049					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)				TCCTGTGGGCGAGTTCCTCCT	0.637			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																													yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"E, O"	0													90	79	83					16																	2129290		2197	4300	6497	SO:0001583	missense	7249	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 160"	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.3145G>A	16.37:g.2129290G>A	ENSP00000219476:p.Glu1049Lys		A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.570729	0.86542	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D	0.92048	-2.74;-2.89;-2.96;-2.95;-2.71	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	D	0.95010	0.8385	L	0.58583	1.82	0.80722	D	1	D;P;D;D;D;D	0.89917	0.998;0.882;0.999;0.999;1.0;0.997	P;B;D;D;D;D	0.71414	0.905;0.411;0.956;0.956;0.973;0.955	D	0.95539	0.8610	10	0.72032	D	0.01	-28.7175	18.0348	0.89296	0.0:0.0:1.0:0.0	.	957;969;1049;1005;1005;1049	B4DIL8;P49815-6;P49815-4;P49815-3;P49815-5;P49815	.;.;.;.;.;TSC2_HUMAN	K	1049;1006;1006;969;957;1049	ENSP00000219476:E1049K;ENSP00000248099:E1006K;ENSP00000399232:E969K;ENSP00000371978:E957K;ENSP00000344383:E1049K	ENSP00000219476:E1049K	E	+	1	0	TSC2	2069291	1.000000	0.71417	0.971000	0.41717	0.695000	0.40330	7.616000	0.83018	2.339000	0.79563	0.561000	0.74099	GAG		0.637	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		A	2129290	G	A	2129290	3	1	711	1	0	0	0	0	1	0	0	0	16611	1059	37	1	3251	1	TSC2	16	2129290	Missense_Mutation	SNP	G	TCGA-KL-8342-01A-11D-2310-10		2129290	88225463	46	39779											
CPPED1	55313	mdanderson.org	37	16	12875238	12875238	+	Silent	SNP	G	G	A			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr16:12875238G>A	ENST00000381774.4	-	2	333	c.93C>T	c.(91-93)ggC>ggT	p.G31G	CPPED1_ENST00000261660.4_Silent_p.G31G|CPPED1_ENST00000433677.2_Silent_p.G31G	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain containing 1	31						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						AGTAGAATGGGCCTTTCCATT	0.478																																																0													65	64	64					16																	12875238		1929	4120	6049	SO:0001819	synonymous_variant	55313			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.93C>T	16.37:g.12875238G>A			B4DQ68|Q6MZY9|Q9H9M9|Q9NUT6	Silent	SNP	ENST00000381774.4	37	CCDS42120.1																																																																																				0.478	CPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395795.2	NM_018340		A	12875238	G	A	12875238	2	1	711	1	0	0	0	0	0	0	0	1	3824	1190	42	2		2	CPPED1	16	12875238	Silent	SNP	G	TCGA-KL-8342-01A-11D-2310-10	10745948	12875238	77479515	47	39780											
ERCC4	2072	broad.mit.edu	37	16	14041897	14041897	+	Missense_Mutation	SNP	A	A	T			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr16:14041897A>T	ENST00000311895.7	+	11	2453	c.2444A>T	c.(2443-2445)gAg>gTg	p.E815V		NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4	815					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						TTGTTTGAGGAGCTGAAACAA	0.507			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	"excision repair cross-complementing rodent repair deficiency, complementation group 4"		E	0													50	49	49					16																	14041897		2197	4300	6497	SO:0001583	missense	2072	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	L76568	CCDS32390.1	16p13.3	2014-09-17	2014-03-07		ENSG00000175595	ENSG00000175595			3436	protein-coding gene	gene with protein product	"xeroderma pigmentosum, complementation group F"	133520	"excision repair cross-complementing rodent repair deficiency, complementation group 4"	XPF		9579555, 8887684	Standard	NM_005236		Approved	RAD1, FANCQ	uc002dce.2	Q92889	OTTHUMG00000048194	ENST00000311895.7:c.2444A>T	16.37:g.14041897A>T	ENSP00000310520:p.Glu815Val		A5PKV6|A8K111|O00140|Q8TD83	Missense_Mutation	SNP	ENST00000311895.7	37	CCDS32390.1	.	.	.	.	.	.	.	.	.	.	A	28.2	4.897569	0.91962	.	.	ENSG00000175595	ENST00000311895;ENST00000389138	T	0.29142	1.58	6.16	5.07	0.68467	DNA repair nuclease, XPF-type/Helicase (1);Restriction endonuclease, type II-like (1);	0.094649	0.64402	D	0.000001	T	0.54062	0.1835	M	0.81179	2.53	0.80722	D	1	D	0.76494	0.999	D	0.64595	0.927	T	0.57785	-0.7751	10	0.56958	D	0.05	-24.7225	11.8141	0.52199	0.932:0.0:0.068:0.0	.	815	Q92889	XPF_HUMAN	V	815;803	ENSP00000310520:E815V	ENSP00000310520:E815V	E	+	2	0	ERCC4	13949398	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.925000	0.75829	1.143000	0.42306	0.528000	0.53228	GAG		0.507	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109634.2	NM_005236		T	14041897	A	T	14041897	3	4	711	1	0	0	0	0	1	0	0	0	5217	304	11	5	2486	5	ERCC4	16	14041897	Missense_Mutation	SNP	A	TCGA-KL-8342-01A-11D-2310-10	1166659	14041897	76312856	48	39781											
ERN2	10595	broad.mit.edu	37	16	23716452	23716452	+	Silent	SNP	C	C	T	rs373918514		TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr16:23716452C>T	ENST00000457008.2	-	8	644	c.606G>A	c.(604-606)gcG>gcA	p.A202A	ERN2_ENST00000256797.4_Silent_p.A250A					endoplasmic reticulum to nucleus signaling 2											large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		TCCCGCAGGACGCCAGGTGGC	0.642																																																0								C		0,4394		0,0,2197	42	41	41		750	-6.7	1	16		41	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ERN2	NM_033266.3		0,1,6496	TT,TC,CC		0.0116,0.0,0.0077		250/975	23716452	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	10595			AA527544	CCDS32407.1	16p12.2	2008-02-05	2007-08-14			ENSG00000134398			16942	protein-coding gene	gene with protein product		604034	"ER to nucleus signalling 2"			9755171, 11175748	Standard	NM_033266		Approved	IRE1b	uc002dma.4	Q76MJ5		ENST00000457008.2:c.606G>A	16.37:g.23716452C>T				Silent	SNP	ENST00000457008.2	37																																																																																					0.642	ERN2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000434886.1			T	23716452	C	T	23716452	2	4	711	1	0	0	0	0	0	0	0	1	5240	523	19	1		1	ERN2	16	23716452	Silent	SNP	C	TCGA-KL-8342-01A-11D-2310-10	9674555	23716452	66638301	49	39782											
SLC9A5	6553	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	16	67293560	67293560	+	Missense_Mutation	SNP	C	C	A	rs575139681		TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr16:67293560C>A	ENST00000299798.11	+	11	1776	c.1711C>A	c.(1711-1713)Ctg>Atg	p.L571M	CTC-277H1.7_ENST00000573063.1_RNA	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	571					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)		TGTCACCAACCTGCTGTGAGT	0.547																																																0													78	81	80					16																	67293560		2064	4212	6276	SO:0001583	missense	6553				CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"Solute carriers"	11078	protein-coding gene	gene with protein product		600477	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 5", "solute carrier family 9 (sodium/hydrogen exchanger), member 5"			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.1711C>A	16.37:g.67293560C>A	ENSP00000299798:p.Leu571Met		A5PKY7|Q9Y626	Missense_Mutation	SNP	ENST00000299798.11	37	CCDS42178.1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.325050	0.60634	.	.	ENSG00000135740	ENST00000299798;ENST00000360183	T	0.59083	0.29	4.82	3.87	0.44632	.	0.379430	0.25040	N	0.033618	T	0.66790	0.2825	L	0.50333	1.59	0.38161	D	0.939038	D;P	0.71674	0.998;0.94	D;P	0.63381	0.914;0.459	T	0.71666	-0.4524	10	0.56958	D	0.05	.	12.565	0.56304	0.0:0.9194:0.0:0.0806	.	59;571	F8WDV9;Q14940	.;SL9A5_HUMAN	M	571;59	ENSP00000299798:L571M	ENSP00000299798:L571M	L	+	1	2	SLC9A5	65851061	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	2.945000	0.49043	1.408000	0.46895	-0.379000	0.06801	CTG		0.547	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421386.1			A	67293560	C	A	67293560	3	1	711	1	0	0	0	0	1	0	0	0	14723	680	24	4	1753	4	SLC9A5	16	67293560	Missense_Mutation	SNP	C	TCGA-KL-8342-01A-11D-2310-10	43577108	67293560	23061193	50	39783											
HYDIN	54768	mdanderson.org	37	16	71163579	71163579	+	Silent	SNP	C	C	T	rs929311	byFrequency	TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr16:71163579C>T	ENST00000393567.2	-	9	1341	c.1191G>A	c.(1189-1191)aaG>aaA	p.K397K	HYDIN_ENST00000393550.2_Silent_p.K397K|HYDIN_ENST00000541601.1_Silent_p.K414K|HYDIN_ENST00000448691.1_Silent_p.K397K|HYDIN_ENST00000288168.10_Silent_p.K414K|HYDIN_ENST00000321489.5_Silent_p.K397K|HYDIN_ENST00000448089.2_Silent_p.K397K|HYDIN_ENST00000538248.1_Silent_p.K424K	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	397					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)				TGAAGAACAGCTTGCTGTCTC	0.453																																																0													62	60	61					16																	71163579		2198	4300	6498	SO:0001819	synonymous_variant	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.1191G>A	16.37:g.71163579C>T			A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	CCDS59269.1																																																																																				0.453	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			T	71163579	C	T	71163579	2	4	711	1	0	0	0	0	0	0	0	1	7469	796	28	2		2	HYDIN	16	71163579	Silent	SNP	C	TCGA-KL-8342-01A-11D-2310-10	3870019	71163579	19191174	51	39784											
SOCS7	30837	ucsc.edu	37	17	36552111	36552111	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr17:36552111T>C	ENST00000577233.1	+	9	1636	c.1636T>C	c.(1636-1638)Tct>Cct	p.S546P	SOCS7_ENST00000331159.5_Missense_Mutation_p.S512P	NM_014598.2	NP_055413.1	O14512	SOCS7_HUMAN	suppressor of cytokine signaling 7	546	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				fat cell differentiation (GO:0045444)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|negative regulation of signal transduction (GO:0009968)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			central_nervous_system(1)|endometrium(1)|kidney(1)|prostate(1)|skin(5)	9	Breast(7;3.47e-17)					ACCTCTGATCTCTTATATCCG	0.383																																																0													56	58	57					17																	36552111		2203	4300	6503	SO:0001583	missense	30837			AB005216	CCDS32637.1	17q12	2014-08-12			ENSG00000274211	ENSG00000274211		"Suppressors of cytokine signaling", "SH2 domain containing"	29846	protein-coding gene	gene with protein product	"Nck, Ash and phospholipase C binding protein", "NCK-associated protein 4"	608788				9344857, 12076535	Standard	XM_005257264		Approved	NAP4, NCKAP4	uc002hqa.3	O14512	OTTHUMG00000188546	ENST00000577233.1:c.1636T>C	17.37:g.36552111T>C	ENSP00000464034:p.Ser546Pro		A2VCU2|Q0IJ63	Missense_Mutation	SNP	ENST00000577233.1	37	CCDS32637.1	.	.	.	.	.	.	.	.	.	.	T	11.56	1.674151	0.29693	.	.	ENSG00000174111	ENST00000331159	T	0.47177	0.85	5.93	4.85	0.62838	SOCS protein, C-terminal (4);	0.317412	0.30365	N	0.009799	T	0.58666	0.2138	L	0.58810	1.83	0.44816	D	0.99782	P;D	0.61697	0.773;0.99	P;P	0.60117	0.53;0.869	T	0.56798	-0.7919	10	0.39692	T	0.17	-10.0184	11.323	0.49433	0.1436:0.0:0.0:0.8564	.	262;546	B5MDS8;O14512	.;SOCS7_HUMAN	P	546	ENSP00000330659:S546P	ENSP00000330659:S546P	S	+	1	0	SOCS7	33805637	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.120000	0.41968	1.050000	0.40346	0.533000	0.62120	TCT		0.383	SOCS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440486.4	XM_371052		C	36552111	T	C	36552111	3	2	711	1	0	0	0	0	1	0	0	0	14925	1551	54	3	1670	3	SOCS7	17	36552111	Missense_Mutation	SNP	T	TCGA-KL-8342-01A-11D-2310-10		36552111	44643099	52	39785											
KRT17	3872	mdanderson.org	37	17	39775939	39775939	+	Splice_Site	SNP	C	C	T			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr17:39775939C>T	ENST00000311208.8	-	8	1273	c.1206G>A	c.(1204-1206)ccG>ccA	p.P402P	JUP_ENST00000540235.1_Splice_Site_p.P561P	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	402	Tail.			LTQYKKEPVT -> FRMSESSPVS (in Ref. 4; AC022596). {ECO:0000305}.	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)				GGGTGGTCACCGCTGCAGGAG	0.627																																					Pancreas(92;1242 2086 39193 50508)											0													67	65	66					17																	39775939		2203	4300	6503	SO:0001630	splice_region_variant	3872			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.1205-1G>A	17.37:g.39775939C>T			A5Z1M9|A5Z1N0|A5Z1N1|A5Z1N2|A6NDV6|A6NKQ2|Q6IP98|Q8N1P6	Silent	SNP	ENST00000311208.8	37	CCDS11402.1																																																																																				0.627	KRT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257460.1	NM_000422	Silent	T	39775939	C	T	39775939	5	4	711	1	0	0	0	0	0	0	1	0	8456	666	23	1	96	1	KRT17	17	39775939	Splice_Site	SNP	C	TCGA-KL-8342-01A-11D-2310-10	3223828	39775939	41419271	53	39786											
BECN1	8678	broad.mit.edu	37	17	40970314	40970314	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr17:40970314T>C	ENST00000361523.4	-	7	740	c.608A>G	c.(607-609)aAg>aGg	p.K203R	BECN1_ENST00000590099.1_Missense_Mutation_p.K203R|BECN1_ENST00000438274.3_Missense_Mutation_p.K127R	NM_003766.3	NP_003757.1	Q14457	BECN1_HUMAN	beclin 1, autophagy related	203					autophagic vacuole assembly (GO:0000045)|beta-amyloid metabolic process (GO:0050435)|cellular defense response (GO:0006968)|cellular response to aluminum ion (GO:0071275)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokinesis (GO:0000910)|defense response to virus (GO:0051607)|lysosome organization (GO:0007040)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|neuron development (GO:0048666)|positive regulation of macroautophagy (GO:0016239)|regulation of catalytic activity (GO:0050790)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to vitamin E (GO:0033197)|viral process (GO:0016032)	dendrite (GO:0030425)|membrane (GO:0016020)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		CTTGCGGTTCTTTTCCACGTC	0.507																																																0													229	209	216					17																	40970314		2203	4300	6503	SO:0001583	missense	8678			AF077301	CCDS11441.1	17q21	2014-02-12	2008-01-14		ENSG00000126581	ENSG00000126581			1034	protein-coding gene	gene with protein product	"ATG6 autophagy related 6 homolog (S. cerevisiae)"	604378	"beclin 1 (coiled-coil, moesin-like BCL2 interacting protein)"			9765397	Standard	NM_003766		Approved	ATG6, VPS30	uc002ibn.2	Q14457		ENST00000361523.4:c.608A>G	17.37:g.40970314T>C	ENSP00000355231:p.Lys203Arg		B2R6N7|O75595|Q9UNA8	Missense_Mutation	SNP	ENST00000361523.4	37	CCDS11441.1	.	.	.	.	.	.	.	.	.	.	T	11.37	1.618875	0.28801	.	.	ENSG00000126581	ENST00000361523;ENST00000438274;ENST00000543382	T;T	0.46451	0.87;2.47	6.03	4.96	0.65561	.	0.204155	0.52532	N	0.000063	T	0.31071	0.0785	L	0.39147	1.195	0.20074	N	0.999932	B;B	0.14438	0.01;0.002	B;B	0.19666	0.026;0.016	T	0.23833	-1.0177	10	0.13853	T	0.58	.	9.0798	0.36545	0.0:0.1392:0.0:0.8608	.	127;203	E7EV84;Q14457	.;BECN1_HUMAN	R	203;127;116	ENSP00000355231:K203R;ENSP00000416173:K127R	ENSP00000355231:K203R	K	-	2	0	BECN1	38223840	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	2.320000	0.43797	1.109000	0.41680	0.533000	0.62120	AAG		0.507	BECN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452405.1	NM_003766		C	40970314	T	C	40970314	3	2	711	1	0	0	0	0	1	0	0	0	1396	1609	56	3	768	3	BECN1	17	40970314	Missense_Mutation	SNP	T	TCGA-KL-8342-01A-11D-2310-10	1194375	40970314	40224896	54	39787											
PLEKHM1	9842	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	17	43531447	43531447	+	Missense_Mutation	SNP	C	C	G			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr17:43531447C>G	ENST00000430334.3	-	7	1904	c.1771G>C	c.(1771-1773)Gat>Cat	p.D591H	PLEKHM1_ENST00000421073.2_Missense_Mutation_p.D502H|AC091132.1_ENST00000433601.1_RNA	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	591	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)					AAGCGCCCATCACTATGGGCT	0.647																																																0													48	45	46					17																	43531447		2203	4300	6503	SO:0001583	missense	9842			X85792	CCDS32671.1	17q21.31	2013-01-11				ENSG00000225190		"Pleckstrin homology (PH) domain containing"	29017	protein-coding gene	gene with protein product		611466				9205841, 12820725	Standard	NM_014798		Approved	KIAA0356	uc002ija.3	Q9Y4G2		ENST00000430334.3:c.1771G>C	17.37:g.43531447C>G	ENSP00000389913:p.Asp591His		Q6P2R5|Q8TEL9|Q9NPP5|Q9NYA0	Missense_Mutation	SNP	ENST00000430334.3	37	CCDS32671.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.768899	0.49680	.	.	ENSG00000225190	ENST00000430334;ENST00000446609;ENST00000421073	T;T	0.32515	1.45;1.45	4.8	4.8	0.61643	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.105214	0.64402	D	0.000005	T	0.44891	0.1315	L	0.29908	0.895	0.47737	D	0.999506	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.994	T	0.44832	-0.9302	10	0.72032	D	0.01	.	16.6534	0.85222	0.0:1.0:0.0:0.0	.	502;540;591	F8W648;B4DRX1;Q9Y4G2	.;.;PKHM1_HUMAN	H	591;540;502	ENSP00000389913:D591H;ENSP00000414352:D502H	ENSP00000414352:D502H	D	-	1	0	PLEKHM1	40887230	1.000000	0.71417	0.804000	0.32291	0.044000	0.14063	7.240000	0.78192	2.514000	0.84764	0.586000	0.80456	GAT		0.647	PLEKHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444659.1	NM_014798		G	43531447	C	G	43531447	3	3	711	1	0	0	0	0	1	0	0	0	12082	826	29	4	1423	4	PLEKHM1	17	43531447	Missense_Mutation	SNP	C	TCGA-KL-8342-01A-11D-2310-10	2561133	43531447	37663763	55	39788											
MADCAM1	8174	mdanderson.org	37	19	501786	501786	+	Missense_Mutation	SNP	C	C	A	rs77264553	byFrequency	TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr19:501786C>A	ENST00000215637.3	+	4	831	c.785C>A	c.(784-786)cCg>cAg	p.P262Q	MADCAM1_ENST00000346144.4_Intron|MADCAM1_ENST00000587541.1_Missense_Mutation_p.P43Q|MADCAM1_ENST00000382683.4_Intron|AC005775.2_ENST00000592413.1_RNA	NM_130760.2	NP_570116.2	Q13477	MADCA_HUMAN	mucosal vascular addressin cell adhesion molecule 1	262	5.5 X 8 AA tandem repeats of [PS]-P-D-T- T-S-[QP]-E.|Mucin-like.				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)		ACCACCTCCCCGGAGCCTCCC	0.726																																																0													21	23	22					19																	501786		2174	4254	6428	SO:0001583	missense	8174			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.785C>A	19.37:g.501786C>A	ENSP00000215637:p.Pro262Gln		A5PKV4|B2RPL9|O60222|O75867|Q5UGI7	Missense_Mutation	SNP	ENST00000215637.3	37	CCDS12028.1	.	.	.	.	.	.	.	.	.	.	c	9.375	1.071453	0.20147	.	.	ENSG00000099866	ENST00000537731;ENST00000542525;ENST00000543297;ENST00000215637	T	0.12147	2.71	3.07	-3.57	0.04612	.	3.584140	0.00988	N	0.003486	T	0.04907	0.0132	N	0.03608	-0.345	0.80722	P	0.0	B	0.33073	0.396	B	0.12837	0.008	T	0.24584	-1.0156	9	0.72032	D	0.01	.	3.8366	0.08897	0.3193:0.4698:0.0:0.2109	.	262	Q13477	MADCA_HUMAN	Q	286;278;270;262	ENSP00000215637:P262Q	ENSP00000215637:P262Q	P	+	2	0	MADCAM1	452786	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.770000	0.04705	-0.633000	0.05545	-0.962000	0.02626	CCG		0.726	MADCAM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451884.1	NM_130760		A	501786	C	A	501786	3	1	711	1	0	0	0	0	1	0	0	0	9153	652	23	4	799	4	MADCAM1	19	501786	Missense_Mutation	SNP	C	TCGA-KL-8342-01A-11D-2310-10		501786	58627197	56	39789											
COL5A3	50509	broad.mit.edu	37	19	10091506	10091506	+	Silent	SNP	A	A	C			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr19:10091506A>C	ENST00000264828.3	-	34	2620	c.2535T>G	c.(2533-2535)ggT>ggG	p.G845G		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	845	Collagen-like 3.|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)			GCCCTGTGGCACCCGGTTGCC	0.582																																																0													28	28	28					19																	10091506		2203	4300	6503	SO:0001819	synonymous_variant	50509			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.2535T>G	19.37:g.10091506A>C			Q9NZQ6	Silent	SNP	ENST00000264828.3	37	CCDS12222.1																																																																																				0.582	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		C	10091506	A	C	10091506	2	2	711	1	0	0	0	0	0	0	0	1	3700	146	6	5		5	COL5A3	19	10091506	Silent	SNP	A	TCGA-KL-8342-01A-11D-2310-10	9589720	10091506	49037477	57	39790											
LRFN3	79414	broad.mit.edu	37	19	36430411	36430412	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr19:36430411_36430412insC	ENST00000588831.1	+	3	1138_1139	c.84_85insC	c.(85-87)cccfs	p.P29fs	LRFN3_ENST00000246529.3_Frame_Shift_Ins_p.P29fs			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	29	LRRNT.				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)			CCAGCCCATGTCCCCGCCGCTG	0.723																																																0																																										SO:0001589	frameshift_variant	79414			BC003578	CCDS12483.1	19q13.13	2013-02-11				ENSG00000126243		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	28370	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 1"	612809				12975309, 16495444, 16828986	Standard	NM_024509		Approved	MGC2656, SALM4, FIGLER1	uc002oco.3	Q9BTN0		ENST00000588831.1:c.88dupC	19.37:g.36430415_36430415dupC	ENSP00000466989:p.Pro29fs		Q6UY10	Frame_Shift_Ins	INS	ENST00000588831.1	37	CCDS12483.1																																																																																				0.723	LRFN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457403.2	NM_024509		C	36430412	-	C	36430411	7	5	711	1	0	1	1	0	0	0	0	0	8941	1673	58	0	86	0	LRFN3	19	36430411	Frame_Shift_Ins	INS	-	TCGA-KL-8342-01A-11D-2310-10	26338905	36430411	22698572	58	39791											
FCGBP	8857	mdanderson.org	37	19	40376900	40376900	+	Missense_Mutation	SNP	G	G	T	rs149109818	byFrequency	TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr19:40376900G>T	ENST00000221347.6	-	24	11529	c.11522C>A	c.(11521-11523)gCg>gAg	p.A3841E	FCGBP_ENST00000595713.1_5'Flank	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	3841	VWFD 9. {ECO:0000255|PROSITE- ProRule:PRU00580}.			A -> E (in Ref. 1; BAA19526). {ECO:0000305}.		extracellular vesicular exosome (GO:0070062)		p.A3841E(1)		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)			GATACAGCCCGCGCTCCCCGG	0.672													t|||	71	0.0141773	0.0197	0.0058	5008	,	,		11441	0.006		0.005	False		,,,				2504	0.0307															1	Substitution - Missense(1)	skin(1)											30	31	30					19																	40376900		2165	4277	6442	SO:0001583	missense	8857			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.11522C>A	19.37:g.40376900G>T	ENSP00000221347:p.Ala3841Glu		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	t	0.022	-1.412467	0.01145	.	.	ENSG00000090920	ENST00000221347	T	0.20738	2.05	3.75	2.7	0.31948	von Willebrand factor, type D domain (1);	.	.	.	.	T	0.05181	0.0138	N	0.01250	-0.93	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41197	-0.9522	9	0.02654	T	1	.	4.1512	0.10238	0.0:0.1831:0.3633:0.4536	.	3841	Q9Y6R7	FCGBP_HUMAN	E	3841	ENSP00000221347:A3841E	ENSP00000221347:A3841E	A	-	2	0	FCGBP	45068740	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-1.853000	0.01666	0.007000	0.14760	-0.824000	0.03097	GCG		0.672	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		T	40376900	G	T	40376900	3	4	711	1	0	0	0	0	1	0	0	0	5780	1087	38	4	4747	4	FCGBP	19	40376900	Missense_Mutation	SNP	G	TCGA-KL-8342-01A-11D-2310-10	3946489	40376900	18752083	59	39792											
DMWD	1762	broad.mit.edu	37	19	46289153	46289154	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr19:46289153_46289154insG	ENST00000270223.6	-	3	1645_1646	c.1600_1601insC	c.(1600-1602)cggfs	p.R534fs	DMWD_ENST00000601370.1_5'Flank|AC011530.4_ENST00000593999.1_Frame_Shift_Ins_p.G27fs|DMWD_ENST00000377735.3_Frame_Shift_Ins_p.R534fs	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	534										central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		CTCTGCCCCCCGGTCCCGCCGC	0.713																																																0																																										SO:0001589	frameshift_variant	1762			L19267	CCDS33054.1	19q13.32	2013-01-09	2007-02-20		ENSG00000185800	ENSG00000185800		"WD repeat domain containing"	2936	protein-coding gene	gene with protein product		609857	"dystrophia myotonica-containing WD repeat motif"			1302022	Standard	NM_004943		Approved	DMR-N9, gene59, D19S593E	uc021uwc.1	Q09019	OTTHUMG00000169044	ENST00000270223.6:c.1601dupC	19.37:g.46289155_46289155dupG	ENSP00000270223:p.Arg534fs			Frame_Shift_Ins	INS	ENST00000270223.6	37	CCDS33054.1																																																																																				0.713	DMWD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402063.1	NM_004943		G	46289154	-	G	46289153	7	5	711	1	0	1	1	0	0	0	0	0	4595	652	23	0	435	0	DMWD	19	46289153	Frame_Shift_Ins	INS	-	TCGA-KL-8342-01A-11D-2310-10	5912253	46289153	12839830	60	39793											
ATP5E	514	broad.mit.edu	37	20	57605434	57605434	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr20:57605434T>C	ENST00000243997.3	-	2	213	c.83A>G	c.(82-84)aAg>aGg	p.K28R	ATP5E_ENST00000395659.1_Missense_Mutation_p.K28R|ATP5E_ENST00000395663.1_Missense_Mutation_p.K28R	NM_006886.3	NP_008817.1	P56381	ATP5E_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit	28					ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) (GO:0000275)	proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)			skin(1)	1	all_lung(29;0.00711)		Colorectal(105;0.109)			GAATTCTGTCTTCAGTGCATC	0.373																																																0													100	95	97					20																	57605434		2203	4300	6503	SO:0001583	missense	514			AF077045	CCDS13476.1	20q13.3	2012-10-12			ENSG00000124172	ENSG00000124172		"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	838	protein-coding gene	gene with protein product		606153				10727396	Standard	NM_006886		Approved		uc002yal.3	P56381	OTTHUMG00000032854	ENST00000243997.3:c.83A>G	20.37:g.57605434T>C	ENSP00000243997:p.Lys28Arg		B2RDD0|E1P5H6|Q53XU6	Missense_Mutation	SNP	ENST00000243997.3	37	CCDS13476.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.681721	0.88542	.	.	ENSG00000124172	ENST00000243997;ENST00000395663;ENST00000395659	D;D;D	0.86164	-2.08;-2.08;-2.08	5.54	5.54	0.83059	.	0.000000	0.64402	U	0.000010	D	0.83667	0.5304	.	.	.	0.45806	D	0.998684	B	0.29936	0.262	B	0.31812	0.136	T	0.81720	-0.0804	9	0.40728	T	0.16	.	14.8524	0.70306	0.0:0.0:0.0:1.0	.	28	P56381	ATP5E_HUMAN	R	28	ENSP00000243997:K28R;ENSP00000379023:K28R;ENSP00000379019:K28R	ENSP00000243997:K28R	K	-	2	0	ATP5E	57038829	1.000000	0.71417	0.520000	0.27837	0.967000	0.64934	5.804000	0.69135	2.095000	0.63458	0.460000	0.39030	AAG		0.373	ATP5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079894.2	NM_001001977		C	57605434	T	C	57605434	3	2	711	1	0	0	0	0	1	0	0	0	1151	1609	56	3	76	3	ATP5E	20	57605434	Missense_Mutation	SNP	T	TCGA-KL-8342-01A-11D-2310-10		57605434	5420086	61	39794											
TMPRSS15	5651	broad.mit.edu	37	21	19751610	19751610	+	Silent	SNP	C	C	T			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr21:19751610C>T	ENST00000284885.3	-	5	555	c.522G>A	c.(520-522)ctG>ctA	p.L174L		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	174						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						CTGGAGTTGCCAGATGACTGG	0.274																																																0													5	5	5					21																	19751610		1067	2113	3180	SO:0001819	synonymous_variant	5651				CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"Serine peptidases / Transmembrane"	9490	protein-coding gene	gene with protein product	"proenterokinase", "enteropeptidase"	606635	"protease, serine, 7 (enterokinase)"	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.522G>A	21.37:g.19751610C>T			Q2NKL7	Silent	SNP	ENST00000284885.3	37	CCDS13571.1																																																																																				0.274	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		T	19751610	C	T	19751610	2	4	711	1	0	0	0	0	0	0	0	1	16251	581	21	2		2	TMPRSS15	21	19751610	Silent	SNP	C	TCGA-KL-8342-01A-11D-2310-10		19751610	28378285	62	39795											
C21orf29	54084	ucsc.edu	37	21	45919681	45919681	+	Silent	SNP	C	C	T			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr21:45919681C>T	ENST00000323084.4	-	12	2060	c.1995G>A	c.(1993-1995)cgG>cgA	p.R665R		NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	665					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						GTGTCCTCAGCCGCAGGACCC	0.706																																																0													13	14	14					21																	45919681		2175	4272	6447	SO:0001819	synonymous_variant	54084			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.1995G>A	21.37:g.45919681C>T				Silent	SNP	ENST00000323084.4	37	CCDS13712.1																																																																																				0.706	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098761.1	NM_144991		T	45919681	C	T	45919681	2	4	711	1	0	0	0	0	0	0	0	1	2126	726	26	2		2	C21orf29	21	45919681	Silent	SNP	C	TCGA-KL-8342-01A-11D-2310-10	26168071	45919681	2210214	63	39796											
CECR2	27443	broad.mit.edu	37	22	18029228	18029228	+	Silent	SNP	T	T	C			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr22:18029228T>C	ENST00000400585.2	+	17	4197	c.3759T>C	c.(3757-3759)ccT>ccC	p.P1253P	CECR2_ENST00000400573.5_Silent_p.P1395P|CECR2_ENST00000262608.8_Silent_p.P1396P			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	1437	Poly-Pro.				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)		TAAGAGGACCTTTCCAGGAAA	0.433																																																0													31	33	33					22																	18029228		1922	4124	6046	SO:0001819	synonymous_variant	27443			AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.3759T>C	22.37:g.18029228T>C			A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Silent	SNP	ENST00000400585.2	37																																																																																					0.433	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413		C	18029228	T	C	18029228	2	2	711	1	0	0	0	0	0	0	0	1	3208	1596	56	3		3	CECR2	22	18029228	Silent	SNP	T	TCGA-KL-8342-01A-11D-2310-10		18029228	33275338	64	39797											
ARFGAP3	26286	ucsc.edu;mdanderson.org;bcgsc.ca	37	22	43231465	43231465	+	Missense_Mutation	SNP	T	T	A	rs142981529		TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr22:43231465T>A	ENST00000263245.5	-	4	515	c.296A>T	c.(295-297)aAt>aTt	p.N99I	ARFGAP3_ENST00000437119.2_Intron|ARFGAP3_ENST00000429508.2_Intron	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	99	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|protein secretion (GO:0009306)|regulation of ARF GTPase activity (GO:0032312)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						ATTGGTGTCATTGGTGGAACA	0.453																																					GBM(58;544 1030 21460 27159 48838)											0													201	165	177					22																	43231465		2203	4300	6503	SO:0001583	missense	26286			AK002083	CCDS14042.1, CCDS46722.1	22q13.2	2009-11-30	2002-08-20	2002-08-23	ENSG00000242247	ENSG00000242247		"ADP-ribosylation factor GTPase activating proteins"	661	protein-coding gene	gene with protein product		612439	"ADP-ribosylation factor GTPase activating protein 1"	ARFGAP1		10704287, 11172815	Standard	NM_014570		Approved		uc003bdd.2	Q9NP61	OTTHUMG00000150718	ENST00000263245.5:c.296A>T	22.37:g.43231465T>A	ENSP00000263245:p.Asn99Ile		E9PB03|Q9BSC6|Q9H9J0|Q9NT10|Q9NUP5|Q9Y4V3|Q9Y4V4	Missense_Mutation	SNP	ENST00000263245.5	37	CCDS14042.1	.	.	.	.	.	.	.	.	.	.	T	6.647	0.487825	0.12641	.	.	ENSG00000242247	ENST00000263245;ENST00000435208	T;T	0.44083	0.93;0.93	5.21	-7.31	0.01441	.	0.548090	0.19699	N	0.108090	T	0.41834	0.1176	L	0.35854	1.095	0.51233	D	0.999915	P	0.43314	0.803	P	0.56788	0.806	T	0.64466	-0.6401	10	0.66056	D	0.02	.	11.0737	0.48019	0.0:0.4668:0.1733:0.3599	.	99	Q9NP61	ARFG3_HUMAN	I	99;77	ENSP00000263245:N99I;ENSP00000407734:N77I	ENSP00000263245:N99I	N	-	2	0	ARFGAP3	41561409	0.000000	0.05858	0.000000	0.03702	0.472000	0.32918	-1.543000	0.02194	-2.706000	0.00396	-1.447000	0.01057	AAT		0.453	ARFGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319747.2	NM_014570		A	43231465	T	A	43231465	3	1	711	1	0	0	0	0	1	0	0	0	851	1493	52	5	1306	5	ARFGAP3	22	43231465	Missense_Mutation	SNP	T	TCGA-KL-8342-01A-11D-2310-10	25202237	43231465	8073101	65	39798											
MAGEB6	158809	bcgsc.ca	37	X	26212262	26212262	+	Missense_Mutation	SNP	C	C	T	rs4272533		TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chrX:26212262C>T	ENST00000379034.1	+	2	448	c.299C>T	c.(298-300)gCc>gTc	p.A100V		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	100	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						TCCCGTGATGCCTCCGTTCCT	0.532													.|||	410	0.108609	0.0272	0.0807	3775	,	,		13813	0.1052		0.0775	False		,,,				2504	0.137															0													88	80	83					X																	26212262		2196	4255	6451	SO:0001583	missense	158809			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.299C>T	X.37:g.26212262C>T	ENSP00000368320:p.Ala100Val		Q6GS19|Q9H219	Missense_Mutation	SNP	ENST00000379034.1	37	CCDS14217.1	113	0.06811332127787824	6	0.012605042016806723	8	0.023391812865497075	24	0.045112781954887216	26	0.03581267217630854	C	6.563	0.472197	0.12461	.	.	ENSG00000176746	ENST00000379034	T	0.01902	4.57	1.26	1.26	0.21427	.	.	.	.	.	T	0.00328	0.0010	N	0.24115	0.695	0.80722	P	0.0	D	0.54772	0.968	B	0.42361	0.385	T	0.49725	-0.8909	8	0.19147	T	0.46	.	5.486	0.16749	0.0:1.0:0.0:0.0	rs4272533;rs52789792;rs4272533	100	Q8N7X4	MAGB6_HUMAN	V	100	ENSP00000368320:A100V	ENSP00000368320:A100V	A	+	2	0	MAGEB6	26122183	0.001000	0.12720	0.004000	0.12327	0.007000	0.05969	0.228000	0.17814	0.914000	0.36822	0.550000	0.68814	GCC		0.532	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		T	26212262	C	T	26212262	3	4	711	1	0	0	0	0	1	0	0	0	9181	739	26	2	301	2	MAGEB6	23	26212262	Missense_Mutation	SNP	C	TCGA-KL-8342-01A-11D-2310-10		26212262	129058298	66	39799											
BCOR	54880	broad.mit.edu	37	X	39913558	39913558	+	Silent	SNP	A	A	G			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chrX:39913558A>G	ENST00000378444.4	-	13	4998	c.4770T>C	c.(4768-4770)aaT>aaC	p.N1590N	BCOR_ENST00000397354.3_Silent_p.N1556N|BCOR_ENST00000378455.4_Silent_p.N1538N|BCOR_ENST00000342274.4_Silent_p.N1556N|BCOR_ENST00000378463.1_Silent_p.N433N	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1590					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						CGTCATCATCATTGCGACCCT	0.438			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic																																Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		0													59	50	53					X																	39913558		2202	4300	6502	SO:0001819	synonymous_variant	54880			AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"Ankyrin repeat domain containing"	20893	protein-coding gene	gene with protein product		300485	"BCL6 co-repressor"			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.4770T>C	X.37:g.39913558A>G			D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Silent	SNP	ENST00000378444.4	37	CCDS48093.1																																																																																				0.438	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		G	39913558	A	G	39913558	2	3	711	1	0	0	0	0	0	0	0	1	1386	214	8	3		3	BCOR	23	39913558	Silent	SNP	A	TCGA-KL-8342-01A-11D-2310-10	13701296	39913558	115357002	67	39800											
AIFM1	9131	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	X	129281737	129281737	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chrX:129281737G>A	ENST00000287295.3	-	4	694	c.464C>T	c.(463-465)cCt>cTt	p.P155L	AIFM1_ENST00000535724.1_Missense_Mutation_p.P68L|AIFM1_ENST00000346424.2_Intron|AIFM1_ENST00000319908.3_Missense_Mutation_p.P151L	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	155	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)	CCTGGCCCCAGGATCCCGAGC	0.502																																																0													113	104	107					X																	129281737		2203	4300	6503	SO:0001583	missense	9131			AF100928	CCDS14618.1, CCDS14619.1, CCDS48167.1	Xq26.1	2014-01-30	2006-11-16	2006-11-16	ENSG00000156709	ENSG00000156709			8768	protein-coding gene	gene with protein product		300169	"programmed cell death 8 (apoptosis-inducing factor)", "neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome)"	PDCD8, NAMSD		9989411, 23217327	Standard	NM_004208		Approved	AIF, CMTX4	uc004evg.3	O95831	OTTHUMG00000022392	ENST00000287295.3:c.464C>T	X.37:g.129281737G>A	ENSP00000287295:p.Pro155Leu		A4QPB4|B1ALN1|B2RB08|D3DTE9|Q1L6K4|Q1L6K6|Q2QKE4|Q5JUZ7|Q6I9X6|Q9Y3I3|Q9Y3I4	Missense_Mutation	SNP	ENST00000287295.3	37	CCDS14618.1	.	.	.	.	.	.	.	.	.	.	G	32	5.132328	0.94473	.	.	ENSG00000156709	ENST00000319908;ENST00000535724;ENST00000287295	D;D;D	0.85013	-1.93;-1.93;-1.93	5.55	5.55	0.83447	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.91862	0.7424	M	0.85373	2.75	0.80722	D	1	D;D;D	0.63880	0.991;0.993;0.991	D;D;D	0.63877	0.913;0.919;0.913	D	0.89790	0.3967	10	0.12430	T	0.62	-9.0643	18.5251	0.90969	0.0:0.0:1.0:0.0	.	155;151;155	Q1L6K6;O95831-3;O95831	.;.;AIFM1_HUMAN	L	151;68;155	ENSP00000315122:P151L;ENSP00000446113:P68L;ENSP00000287295:P155L	ENSP00000287295:P155L	P	-	2	0	AIFM1	129109418	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	9.401000	0.97294	2.317000	0.78254	0.544000	0.68410	CCT		0.502	AIFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058247.2			A	129281737	G	A	129281737	3	1	711	1	0	0	0	0	1	0	0	0	426	1000	35	2	1441	2	AIFM1	23	129281737	Missense_Mutation	SNP	G	TCGA-KL-8342-01A-11D-2310-10	89368179	129281737	25988823	68	39801											
MAMLD1	10046	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	X	149638778	149638778	+	Silent	SNP	A	A	T			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chrX:149638778A>T	ENST00000370401.2	+	4	1243	c.933A>T	c.(931-933)gcA>gcT	p.A311A	MAMLD1_ENST00000426613.2_Silent_p.A286A|MAMLD1_ENST00000432680.2_Silent_p.A286A|MAMLD1_ENST00000455522.2_5'Flank|MAMLD1_ENST00000262858.5_Silent_p.A311A			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	311					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)					AGGCGTTGGCAGCCAGCAAGC	0.637																																																0													80	57	65					X																	149638778		2203	4300	6503	SO:0001819	synonymous_variant	10046			U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"chromosome X open reading frame 6"	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.933A>T	X.37:g.149638778A>T			B2RCQ4|B4DG93|B9EGA5	Silent	SNP	ENST00000370401.2	37	CCDS14693.2																																																																																				0.637	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		T	149638778	A	T	149638778	2	4	711	1	0	0	0	0	0	0	0	1	9210	175	7	5		5	MAMLD1	23	149638778	Silent	SNP	A	TCGA-KL-8342-01A-11D-2310-10	20357041	149638778	5631782	69	39802											
RBMXL1	494115	mdanderson.org	37	1	89448940	89448940	+	Silent	SNP	A	A	G			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr1:89448940A>G	ENST00000321792.5	-	2	997	c.570T>C	c.(568-570)taT>taC	p.Y190Y	CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000370485.2_Intron|RBMXL1_ENST00000399794.2_Silent_p.Y190Y|RBMXL1_ENST00000413769.1_5'Flank|CCBL2_ENST00000370491.3_Intron	NM_019610.5	NP_062556.2	Q96E39	RMXL1_HUMAN	RNA binding motif protein, X-linked-like 1	190					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)										GTGGACCTCCATAACTATCTC	0.502																																																0													175	174	174					1																	89448940		2203	4300	6503	SO:0001819	synonymous_variant	494115			BC012942	CCDS716.1	1p22.2	2013-02-12	2007-01-04	2007-01-04	ENSG00000213516	ENSG00000213516		"RNA binding motif (RRM) containing"	25073	protein-coding gene	gene with protein product	"kynurenine aminotransferase III"					10441733	Standard	NM_019610		Approved	KAT3	uc001dms.3	Q96E39	OTTHUMG00000010661	ENST00000321792.5:c.570T>C	1.37:g.89448940A>G				Silent	SNP	ENST00000321792.5	37	CCDS716.1																																																																																				0.502	RBMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029403.3	NM_019610		G	89448940	A	G	89448940	2	3	712	1	0	0	0	0	0	0	0	1	13159	224	8	3		3	RBMXL1	1	89448940	Silent	SNP	A	TCGA-KL-8343-01A-11D-2310-10		89448940	159801681	1	39803											
CELSR2	1952	mdanderson.org	37	1	109801121	109801121	+	Silent	SNP	C	C	T	rs684138	byFrequency	TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr1:109801121C>T	ENST00000271332.3	+	2	3439	c.3378C>T	c.(3376-3378)acC>acT	p.T1126T		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1126	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		AGATGCTCACCCACAGCATCA	0.652													C|||	583	0.116414	0.3033	0.0893	5008	,	,		19037	0.0		0.1044	False		,,,				2504	0.0153				NSCLC(158;1285 2011 34800 34852 42084)											0								C		1202,3202		164,874,1164	42	34	36		3378	-1.5	1	1	dbSNP_83	36	817,7779		44,729,3525	yes	coding-synonymous	CELSR2	NM_001408.2		208,1603,4689	TT,TC,CC		9.5044,27.2934,15.5308		1126/2924	109801121	2019,10981	2202	4298	6500	SO:0001819	synonymous_variant	1952			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3231	protein-coding gene	gene with protein product		604265	"cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.3378C>T	1.37:g.109801121C>T			Q5T2Y7|Q92566	Silent	SNP	ENST00000271332.3	37	CCDS796.1																																																																																				0.652	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		T	109801121	C	T	109801121	2	4	712	1	0	0	0	0	0	0	0	1	3224	610	22	2		2	CELSR2	1	109801121	Silent	SNP	C	TCGA-KL-8343-01A-11D-2310-10	20352181	109801121	139449500	2	39804											
AMPD2	271	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	1	110168780	110168780	+	Splice_Site	SNP	A	A	T			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr1:110168780A>T	ENST00000256578.3	+	4	875		c.e4-1		AMPD2_ENST00000528454.1_Splice_Site|AMPD2_ENST00000528667.1_Splice_Site|AMPD2_ENST00000526301.1_Splice_Site|AMPD2_ENST00000393688.3_Splice_Site|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000358729.4_Splice_Site|AMPD2_ENST00000342115.4_Splice_Site	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2						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)		TCTTGCCTCTAGGCTGGAGCC	0.607																																																0													73	56	62					1																	110168780		2203	4300	6503	SO:0001630	splice_region_variant	271			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.516-1A>T	1.37:g.110168780A>T			B4DK50|B4DZI5|E9PNG0|Q14856|Q14857|Q16686|Q16687|Q16688|Q16729|Q5T693|Q5T695|Q96IA1|Q9UDX8|Q9UDX9|Q9UMU4	Splice_Site	SNP	ENST00000256578.3	37	CCDS805.1	.	.	.	.	.	.	.	.	.	.	A	16.57	3.160411	0.57368	.	.	ENSG00000116337	ENST00000531734;ENST00000342115;ENST00000528667;ENST00000531203;ENST00000256578;ENST00000358729;ENST00000369840;ENST00000527846;ENST00000528454;ENST00000393688	.	.	.	4.97	4.97	0.65823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.975	0.41777	0.9179:0.0:0.0821:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AMPD2	109970303	1.000000	0.71417	0.887000	0.34795	0.742000	0.42306	9.023000	0.93683	1.872000	0.54250	0.379000	0.24179	.		0.607	AMPD2-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390615.1		Intron	T	110168780	A	T	110168780	5	4	712	1	0	0	0	0	0	0	1	0	586	434	15	5	569	5	AMPD2	1	110168780	Splice_Site	SNP	A	TCGA-KL-8343-01A-11D-2310-10	367659	110168780	139081841	3	39805											
CHIA	27159	mdanderson.org;bcgsc.ca	37	1	111863044	111863044	+	Missense_Mutation	SNP	G	G	A	rs142653250	byFrequency	TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr1:111863044G>A	ENST00000369740.1	+	12	1490	c.1387G>A	c.(1387-1389)Ggg>Agg	p.G463R	CHIA_ENST00000483391.1_Missense_Mutation_p.G302R|CHIA_ENST00000430615.1_Missense_Mutation_p.G355R|CHIA_ENST00000343320.6_Missense_Mutation_p.G463R|CHIA_ENST00000451398.2_Missense_Mutation_p.G302R|CHIA_ENST00000353665.6_Missense_Mutation_p.G302R|RP5-1125M8.2_ENST00000426321.1_RNA	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	463	Chitin-binding type-2. {ECO:0000255|PROSITE-ProRule:PRU00144}.				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)		CTGCCAGGCCGGGCTTGTCTT	0.527													G|||	3	0.000599042	0.0	0.0014	5008	,	,		21604	0.001		0.001	False		,,,				2504	0.0															0								G	ARG/GLY,ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	62	61	62		1063,1387	1.8	0	1	dbSNP_134	62	14,8586	9.8+/-36.6	0,14,4286	yes	missense,missense	CHIA	NM_021797.2,NM_201653.2	125,125	0,15,6488	AA,AG,GG		0.1628,0.0227,0.1153	possibly-damaging,possibly-damaging	355/369,463/477	111863044	15,12991	2203	4300	6503	SO:0001583	missense	27159			AF290004	CCDS832.1, CCDS41368.1, CCDS58017.1	1p13.2	2008-05-14			ENSG00000134216	ENSG00000134216			17432	protein-coding gene	gene with protein product		606080				11085997	Standard	NM_021797		Approved	AMCase, TSA1902, CHIT2	uc001eas.4	Q9BZP6	OTTHUMG00000011165	ENST00000369740.1:c.1387G>A	1.37:g.111863044G>A	ENSP00000358755:p.Gly463Arg		Q32W79|Q32W80|Q3B866|Q5U5Z5|Q5VUV4|Q86UD8|Q9ULY3|Q9ULY4	Missense_Mutation	SNP	ENST00000369740.1	37	CCDS41368.1	3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	1	0.0017482517482517483	1	0.0013192612137203166	G	12.12	1.841326	0.32513	2.27E-4	0.001628	ENSG00000134216	ENST00000422815;ENST00000483391;ENST00000369740;ENST00000343320;ENST00000451398;ENST00000353665;ENST00000430615	T;T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85;0.85	4.77	1.8	0.24995	Chitin binding domain (5);	0.000000	0.56097	U	0.000034	T	0.45196	0.1330	H	0.98594	4.275	0.09310	N	1	P	0.39847	0.691	B	0.38880	0.284	T	0.52253	-0.8600	10	0.62326	D	0.03	-1.4299	5.9113	0.19029	0.1698:0.0:0.6772:0.153	.	463	Q9BZP6	CHIA_HUMAN	R	407;302;463;463;302;302;355	ENSP00000387671:G407R;ENSP00000436946:G302R;ENSP00000358755:G463R;ENSP00000341828:G463R;ENSP00000390476:G302R;ENSP00000338970:G302R;ENSP00000391132:G355R	ENSP00000341828:G463R	G	+	1	0	CHIA	111664567	0.399000	0.25287	0.000000	0.03702	0.668000	0.39293	1.995000	0.40767	0.298000	0.22638	0.655000	0.94253	GGG		0.527	CHIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030710.1			A	111863044	G	A	111863044	3	1	712	1	0	0	0	0	1	0	0	0	3344	1116	39	1	1429	1	CHIA	1	111863044	Missense_Mutation	SNP	G	TCGA-KL-8343-01A-11D-2310-10	1694264	111863044	137387577	4	39806											
NBPF10	100132406	mdanderson.org	37	1	145299805	145299805	+	Missense_Mutation	SNP	A	A	C	rs61814629	byFrequency	TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr1:145299805A>C	ENST00000369338.1	+	2	231	c.41A>C	c.(40-42)gAg>gCg	p.E14A	NBPF10_ENST00000369339.3_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000342960.5_Missense_Mutation_p.E285A			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	285						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.E285A(1)|p.E14A(1)		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)		GAGAAGGCAGAGATGAACATT	0.493													.|||	179	0.0357428	0.0015	0.0231	5008	,	,		43597	0.0635		0.0487	False		,,,				2504	0.0491															2	Substitution - Missense(2)	skin(2)											9	8	8					1																	145299805		690	1570	2260	SO:0001583	missense	100132406			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	ENST00000369338.1:c.41A>C	1.37:g.145299805A>C	ENSP00000358344:p.Glu14Ala		Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369338.1	37		.	.	.	.	.	.	.	.	.	.	.	11.71	1.719994	0.30503	.	.	ENSG00000163386	ENST00000448873;ENST00000369338;ENST00000369334;ENST00000342960	T;T	0.03663	3.85;3.85	1.05	1.05	0.20165	.	.	.	.	.	T	0.03095	0.0091	M	0.74647	2.275	0.09310	N	1	P	0.37398	0.593	P	0.45577	0.486	T	0.39941	-0.9589	9	0.66056	D	0.02	.	4.3442	0.11124	1.0:0.0:0.0:0.0	rs61814629	14	Q86T75-2	.	A	210;14;14;285	ENSP00000358344:E14A;ENSP00000345684:E285A	ENSP00000345684:E285A	E	+	2	0	NBPF10	144011162	0.002000	0.14202	0.003000	0.11579	0.032000	0.12392	-0.314000	0.08092	0.731000	0.32448	0.234000	0.17832	GAG		0.493	NBPF10-003	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038552.1	NM_001039703		C	145299805	A	C	145299805	3	2	712	1	0	0	0	0	1	0	0	0	10195	304	11	5	876	5	NBPF10	1	145299805	Missense_Mutation	SNP	A	TCGA-KL-8343-01A-11D-2310-10	33436761	145299805	103950816	5	39807											
PRG4	10216	broad.mit.edu	37	1	186276256	186276257	+	In_Frame_Ins	INS	-	-	CCA	rs149342058	byFrequency	TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr1:186276256_186276257insCCA	ENST00000445192.2	+	7	1450_1451	c.1405_1406insCCA	c.(1405-1407)ccc>cCCAcc	p.471_472insT	PRG4_ENST00000367483.4_In_Frame_Ins_p.430_431insT|PRG4_ENST00000367486.3_In_Frame_Ins_p.428_429insT|PRG4_ENST00000367485.4_In_Frame_Ins_p.378_379insT|PRG4_ENST00000367484.3_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	471	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						GGAGCCTGCACCCACCACCAAG	0.653																																																0																																										SO:0001652	inframe_insertion	10216			U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"lubricin", "megakaryocyte stimulating factor", "articular superficial zone protein", "Jacobs camptodactyly-arthropathy-pericarditis syndrome", "camptodactyly, arthropathy, coxa vara, pericarditis syndrome", "bG174L6.2 (MSF: megakaryocyte stimulating factor )"	604283	"proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1412_1414dupCCA	1.37:g.186276263_186276265dupCCA	ENSP00000399679:p.Thr471_Thr471dup		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	In_Frame_Ins	INS	ENST00000445192.2	37	CCDS1369.1																																																																																				0.653	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		CCA	186276257	-	CCA	186276256	7	5	712	1	0	1	1	0	0	0	0	0	12486	507	18	0	1427	0	PRG4	1	186276256	In_Frame_Ins	INS	-	TCGA-KL-8343-01A-11D-2310-10	40976451	186276256	62974365	6	39808											
TPR	7175	bcgsc.ca	37	1	186283126	186283126	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr1:186283126T>C	ENST00000367478.4	-	51	7365	c.7069A>G	c.(7069-7071)Ata>Gta	p.I2357V	PRG4_ENST00000367483.4_3'UTR|PRG4_ENST00000367486.3_3'UTR|PRG4_ENST00000367485.4_3'UTR|PRG4_ENST00000445192.2_3'UTR|PRG4_ENST00000367484.3_3'UTR|RNU6-1240P_ENST00000365155.1_RNA	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	2357					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)		CCTCTGTTTATTCCTCCTCTC	0.294			T	NTRK1	papillary thyroid																																		Dom	yes		1	1q25	7175	translocated promoter region		E	0													102	101	102					1																	186283126		1816	4073	5889	SO:0001583	missense	7175			U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"translocated promoter region (to activated MET oncogene)"			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.7069A>G	1.37:g.186283126T>C	ENSP00000356448:p.Ile2357Val		Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	T	11.62	1.694038	0.30052	.	.	ENSG00000047410	ENST00000367478	T	0.23147	1.92	5.79	3.47	0.39725	.	0.407546	0.27816	N	0.017721	T	0.19644	0.0472	L	0.36672	1.1	0.28273	N	0.924309	B	0.13594	0.008	B	0.12156	0.007	T	0.13150	-1.0520	10	0.21014	T	0.42	.	12.5726	0.56344	0.0:0.0:0.3977:0.6023	.	2357	P12270	TPR_HUMAN	V	2357	ENSP00000356448:I2357V	ENSP00000356448:I2357V	I	-	1	0	TPR	184549749	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.572000	0.36461	0.981000	0.38548	0.528000	0.53228	ATA		0.294	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		C	186283126	T	C	186283126	3	2	712	1	0	0	0	0	1	0	0	0	16421	1493	52	3	26	3	TPR	1	186283126	Missense_Mutation	SNP	T	TCGA-KL-8343-01A-11D-2310-10	6870	186283126	62967495	7	39809											
CHIT1	1118	hgsc.bcm.edu;ucsc.edu	37	1	203188924	203188924	+	Silent	SNP	G	G	T			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr1:203188924G>T	ENST00000367229.1	-	8	817	c.783C>A	c.(781-783)atC>atA	p.I261I	CHIT1_ENST00000255427.3_Silent_p.I242I|CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000535569.1_Silent_p.I252I	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	261					chitin catabolic process (GO:0006032)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|lysosome (GO:0005764)	chitin binding (GO:0008061)|chitinase activity (GO:0004568)|endochitinase activity (GO:0008843)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						GCATGCCAAGGATCAGCTTGC	0.612																																																0													51	47	48					1																	203188924		2203	4300	6503	SO:0001819	synonymous_variant	1118			U29615	CCDS1436.1, CCDS58057.1	1q32.1	2013-06-06			ENSG00000133063	ENSG00000133063			1936	protein-coding gene	gene with protein product		600031				9748235, 9492324	Standard	NM_003465		Approved	CHIT, CHI3	uc001gzn.2	Q13231	OTTHUMG00000042126	ENST00000367229.1:c.783C>A	1.37:g.203188924G>T			B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	Silent	SNP	ENST00000367229.1	37	CCDS1436.1																																																																																				0.612	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100275.2	NM_003465		T	203188924	G	T	203188924	2	4	712	1	0	0	0	0	0	0	0	1	3348	1164	41	4		4	CHIT1	1	203188924	Silent	SNP	G	TCGA-KL-8343-01A-11D-2310-10	16905798	203188924	46061697	8	39810											
RD3	343035	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	211654675	211654675	+	Missense_Mutation	SNP	G	G	A	rs61740157	byFrequency	TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr1:211654675G>A	ENST00000367002.4	-	2	1246	c.83C>T	c.(82-84)aCg>aTg	p.T28M	RD3_ENST00000484910.1_Intron	NM_001164688.1|NM_183059.2	NP_001158160.1|NP_898882.1	Q7Z3Z2	RD3_HUMAN	retinal degeneration 3	28					response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)					central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10				OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689)		CATCATAAGCGTCTCCAGCAC	0.627													G|||	3	0.000599042	0.0023	0.0	5008	,	,		19913	0.0		0.0	False		,,,				2504	0.0															0								G	MET/THR,MET/THR	15,4391	22.3+/-47.3	0,15,2188	65	64	64		83,83	4.8	1	1	dbSNP_129	64	0,8600		0,0,4300	yes	missense,missense	RD3	NM_001164688.1,NM_183059.2	81,81	0,15,6488	AA,AG,GG		0.0,0.3404,0.1153	probably-damaging,probably-damaging	28/196,28/196	211654675	15,12991	2203	4300	6503	SO:0001583	missense	343035			AY191519	CCDS1498.1	1q32.3	2008-02-05	2006-11-13	2006-11-13	ENSG00000198570	ENSG00000198570			19689	protein-coding gene	gene with protein product		180040	"chromosome 1 open reading frame 36"	C1orf36		12914764	Standard	NM_183059		Approved	LCA12	uc001hin.2	Q7Z3Z2	OTTHUMG00000037002	ENST00000367002.4:c.83C>T	1.37:g.211654675G>A	ENSP00000355969:p.Thr28Met		A8K595	Missense_Mutation	SNP	ENST00000367002.4	37	CCDS1498.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	24.3	4.516183	0.85495	0.003404	0.0	ENSG00000198570	ENST00000367002	T	0.15834	2.39	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.43122	0.1233	M	0.70595	2.14	0.54753	D	0.999987	D	0.89917	1.0	D	0.91635	0.999	T	0.32079	-0.9920	10	0.49607	T	0.09	-44.5479	18.3198	0.90234	0.0:0.0:1.0:0.0	.	28	Q7Z3Z2	RD3_HUMAN	M	28	ENSP00000355969:T28M	ENSP00000355969:T28M	T	-	2	0	RD3	209721298	1.000000	0.71417	0.997000	0.53966	0.776000	0.43924	8.904000	0.92590	2.395000	0.81488	0.561000	0.74099	ACG		0.627	RD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089837.1	NM_183059		A	211654675	G	A	211654675	3	1	712	1	0	0	0	0	1	0	0	0	13193	1145	40	1	512	1	RD3	1	211654675	Missense_Mutation	SNP	G	TCGA-KL-8343-01A-11D-2310-10	8465751	211654675	37595946	9	39811											
LYST	1130	ucsc.edu	37	1	235964396	235964396	+	Splice_Site	SNP	C	C	T			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr1:235964396C>T	ENST00000389794.3	-	9	3888	c.3714G>A	c.(3712-3714)ggG>ggA	p.G1238G	LYST_ENST00000536965.1_Splice_Site_p.G1238G|LYST_ENST00000389793.2_Splice_Site_p.G1238G			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1238					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)			TTAAGTCTACCCCTGAAAAGA	0.333																																																0													70	73	72					1																	235964396		2202	4299	6501	SO:0001630	splice_region_variant	1130			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.3713-1G>A	1.37:g.235964396C>T			O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Silent	SNP	ENST00000389794.3	37	CCDS31062.1																																																																																				0.333	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5		Silent	T	235964396	C	T	235964396	5	4	712	1	0	0	0	0	0	0	1	0	9130	637	22	2	7871	2	LYST	1	235964396	Splice_Site	SNP	C	TCGA-KL-8343-01A-11D-2310-10	24309721	235964396	13286225	10	39812											
SDC1	6382	broad.mit.edu	37	2	20402642	20402642	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr2:20402642A>G	ENST00000254351.4	-	5	1062	c.818T>C	c.(817-819)tTc>tCc	p.F273S	SDC1_ENST00000403076.1_Intron|SDC1_ENST00000482879.1_Intron|SDC1_ENST00000381150.1_Missense_Mutation_p.F273S	NM_002997.4	NP_002988	P18827	SDC1_HUMAN	syndecan 1	273					canonical Wnt signaling pathway (GO:0060070)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|lipoprotein metabolic process (GO:0042157)|myoblast development (GO:0048627)|odontogenesis (GO:0042476)|phototransduction, visible light (GO:0007603)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to toxic substance (GO:0009636)|retinoid metabolic process (GO:0001523)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|striated muscle cell development (GO:0055002)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		GTACAGCATGAAACCCACCAG	0.617																																																0													138	139	139					2																	20402642		2203	4300	6503	SO:0001583	missense	6382			AJ551176	CCDS1697.1	2p24.1	2008-02-05			ENSG00000115884	ENSG00000115884		"CD molecules", "Proteoglycans / Cell Surface : Syndecans"	10658	protein-coding gene	gene with protein product	"syndecan proteoglycan 1"	186355		SDC			Standard	XM_005262621		Approved	CD138, syndecan, SYND1	uc002rdo.1	P18827	OTTHUMG00000090751	ENST00000254351.4:c.818T>C	2.37:g.20402642A>G	ENSP00000254351:p.Phe273Ser		D6W523|Q53QV0|Q546D3|Q96HB7	Missense_Mutation	SNP	ENST00000254351.4	37	CCDS1697.1	.	.	.	.	.	.	.	.	.	.	A	17.47	3.398474	0.62177	.	.	ENSG00000115884	ENST00000254351;ENST00000381150	T;T	0.28666	1.6;1.6	4.63	4.63	0.57726	.	0.000000	0.51477	D	0.000095	T	0.55625	0.1932	M	0.80847	2.515	0.51767	D	0.99993	D	0.76494	0.999	D	0.72338	0.977	T	0.62011	-0.6944	10	0.87932	D	0	-19.074	12.2904	0.54815	1.0:0.0:0.0:0.0	.	273	P18827	SDC1_HUMAN	S	273	ENSP00000254351:F273S;ENSP00000370542:F273S	ENSP00000254351:F273S	F	-	2	0	SDC1	20266123	1.000000	0.71417	0.995000	0.50966	0.117000	0.20001	9.101000	0.94219	1.849000	0.53698	0.459000	0.35465	TTC		0.617	SDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207495.1	NM_001006946		G	20402642	A	G	20402642	3	3	712	1	0	0	0	0	1	0	0	0	13957	246	9	3	118	3	SDC1	2	20402642	Missense_Mutation	SNP	A	TCGA-KL-8343-01A-11D-2310-10		20402642	222796731	11	39813											
TRIM54	57159	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	27527838	27527838	+	Missense_Mutation	SNP	C	C	A			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr2:27527838C>A	ENST00000380075.2	+	4	865	c.525C>A	c.(523-525)agC>agA	p.S175R	TRIM54_ENST00000296098.4_Missense_Mutation_p.S217R	NM_187841.2	NP_912730.2	Q9BYV2	TRI54_HUMAN	tripartite motif containing 54	175	Mediates microtubule-binding and homooligomerization. {ECO:0000250}.				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)					GTGAGCTCAGCGATGGCATCG	0.607																																																0													85	65	72					2																	27527838		2203	4300	6503	SO:0001583	missense	57159			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.525C>A	2.37:g.27527838C>A	ENSP00000369415:p.Ser175Arg		A5D8T7|Q53SY4|Q9BYV3	Missense_Mutation	SNP	ENST00000380075.2	37	CCDS1746.2	.	.	.	.	.	.	.	.	.	.	C	19.37	3.813742	0.70912	.	.	ENSG00000138100	ENST00000380075;ENST00000296098	T;T	0.56611	0.45;2.44	5.77	-8.68	0.00859	.	0.000000	0.85682	D	0.000000	T	0.46190	0.1380	L	0.51422	1.61	0.45087	D	0.998104	B;P	0.40534	0.058;0.72	B;P	0.44860	0.028;0.462	T	0.61237	-0.7103	10	0.33940	T	0.23	-19.0914	17.7535	0.88442	0.0:0.7584:0.0:0.2416	.	175;217	Q9BYV2;Q9BYV2-2	TRI54_HUMAN;.	R	175;217	ENSP00000369415:S175R;ENSP00000296098:S217R	ENSP00000296098:S217R	S	+	3	2	TRIM54	27381342	0.000000	0.05858	0.533000	0.28001	0.981000	0.71138	-1.638000	0.02013	-1.882000	0.01122	-0.291000	0.09656	AGC		0.607	TRIM54-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214199.2	NM_187841		A	27527838	C	A	27527838	3	1	712	1	0	0	0	0	1	0	0	0	16533	767	27	4	669	4	TRIM54	2	27527838	Missense_Mutation	SNP	C	TCGA-KL-8343-01A-11D-2310-10	7125196	27527838	215671535	12	39814											
EIF2B4	8890	mdanderson.org	37	2	27592316	27592316	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr2:27592316T>C	ENST00000347454.4	-	3	347	c.176A>G	c.(175-177)gAg>gGg	p.E59G	SNX17_ENST00000233575.2_5'Flank|SNX17_ENST00000537606.1_5'Flank|AC074117.10_ENST00000412749.1_RNA|SNX17_ENST00000542478.1_5'Flank|EIF2B4_ENST00000493344.2_Missense_Mutation_p.E80G|SNX17_ENST00000543024.1_5'Flank|EIF2B4_ENST00000451130.2_Missense_Mutation_p.E80G|EIF2B4_ENST00000445933.2_Missense_Mutation_p.E59G	NM_001034116.1|NM_015636.3	NP_001029288.1|NP_056451.3	Q9UI10	EI2BD_HUMAN	eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa	59					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)					AGAGCCAGTCTCTGGTTCTGC	0.522																																																0													233	194	207					2																	27592316		2203	4300	6503	SO:0001583	missense	8890			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.176A>G	2.37:g.27592316T>C	ENSP00000233552:p.Glu59Gly		Q53RY7|Q5BJF4|Q9BUV9|Q9UBG4|Q9UIQ9|Q9UJ95	Missense_Mutation	SNP	ENST00000347454.4	37	CCDS33164.1	.	.	.	.	.	.	.	.	.	.	T	19.52	3.843101	0.71488	.	.	ENSG00000115211	ENST00000347454;ENST00000414437;ENST00000445933;ENST00000451130;ENST00000493344	D;D;D;D	0.94828	-3.53;-3.53;-3.53;-3.53	4.87	3.65	0.41850	.	0.570797	0.19966	N	0.102106	D	0.91583	0.7341	L	0.46157	1.445	0.47441	D	0.999425	P;B;B;B;B	0.44139	0.827;0.277;0.277;0.181;0.277	B;B;B;B;B	0.44133	0.442;0.053;0.053;0.024;0.053	D	0.90164	0.4230	10	0.45353	T	0.12	-3.4995	8.6998	0.34318	0.0:0.0:0.191:0.809	.	53;57;59;59;80	Q59FC8;F5H6W1;Q9UI10-3;Q9UI10;Q9UI10-2	.;.;.;EI2BD_HUMAN;.	G	59;57;59;80;80	ENSP00000233552:E59G;ENSP00000394397:E59G;ENSP00000394869:E80G;ENSP00000429323:E80G	ENSP00000233552:E59G	E	-	2	0	EIF2B4	27445820	0.006000	0.16342	0.169000	0.22859	0.969000	0.65631	0.807000	0.27140	2.049000	0.60858	0.459000	0.35465	GAG		0.522	EIF2B4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324448.1			C	27592316	T	C	27592316	3	2	712	1	0	0	0	0	1	0	0	0	5005	1551	54	3	1439	3	EIF2B4	2	27592316	Missense_Mutation	SNP	T	TCGA-KL-8343-01A-11D-2310-10	64478	27592316	215607057	13	39815											
IMMT	10989	bcgsc.ca	37	2	86408441	86408441	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr2:86408441A>G	ENST00000410111.3	-	2	487	c.100T>C	c.(100-102)Tct>Cct	p.S34P	IMMT_ENST00000254636.5_5'UTR|IMMT_ENST00000449247.2_Missense_Mutation_p.S34P|IMMT_ENST00000442664.2_Missense_Mutation_p.S34P|IMMT_ENST00000409051.2_Missense_Mutation_p.S34P	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	34					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						CCTGAAGTAGAGTATCTGCGG	0.443																																																0													73	71	72					2																	86408441		1931	4130	6061	SO:0001583	missense	10989			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.100T>C	2.37:g.86408441A>G	ENSP00000387262:p.Ser34Pro		B1H0U5|B2R5N6|Q14539|Q15092|Q68D41|Q69HW5|Q6IBL0|Q7Z3X1|Q8TAJ5|Q9P0V2	Missense_Mutation	SNP	ENST00000410111.3	37	CCDS46355.1	.	.	.	.	.	.	.	.	.	.	A	14.42	2.529243	0.44969	.	.	ENSG00000132305	ENST00000449247;ENST00000410111;ENST00000442664;ENST00000409051;ENST00000545283;ENST00000377310;ENST00000398211;ENST00000409715	T;T;T;T	0.37058	1.22;1.24;1.24;1.3	5.55	5.55	0.83447	.	0.178411	0.50627	D	0.000117	T	0.34454	0.0898	L	0.27053	0.805	0.35412	D	0.792516	B;B;B;D;B;B;B;B;B	0.53462	0.003;0.001;0.002;0.96;0.02;0.005;0.003;0.005;0.002	B;B;B;P;B;B;B;B;B	0.49451	0.018;0.003;0.008;0.611;0.026;0.03;0.018;0.03;0.008	T	0.49409	-0.8943	10	0.59425	D	0.04	-12.2889	12.1652	0.54125	0.8575:0.1425:0.0:0.0	.	34;34;34;34;34;34;34;34;34	F5GZ32;B9A067;B4DKR1;Q05DN3;B4E2B5;F8W9I1;Q16891-2;Q16891-3;Q16891	.;.;.;.;.;.;.;.;IMMT_HUMAN	P	34	ENSP00000396899:S34P;ENSP00000387262:S34P;ENSP00000407788:S34P;ENSP00000387227:S34P	ENSP00000366526:S34P	S	-	1	0	IMMT	86261952	1.000000	0.71417	0.997000	0.53966	0.887000	0.51463	3.512000	0.53407	2.118000	0.64928	0.533000	0.62120	TCT		0.443	IMMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329909.2	NM_006839		G	86408441	A	G	86408441	3	3	712	1	0	0	0	0	1	0	0	0	7720	304	11	3	2232	3	IMMT	2	86408441	Missense_Mutation	SNP	A	TCGA-KL-8343-01A-11D-2310-10	58816125	86408441	156790932	14	39816											
IL18RAP	8807	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	103068475	103068475	+	Missense_Mutation	SNP	T	T	A			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr2:103068475T>A	ENST00000264260.2	+	12	2223	c.1634T>A	c.(1633-1635)gTt>gAt	p.V545D	IL18RAP_ENST00000409369.1_Missense_Mutation_p.V403D	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	545	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				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						TTAAAATCAGTTCCTCCCAAT	0.453																																																0													129	139	135					2																	103068475		2203	4300	6503	SO:0001583	missense	8807			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.1634T>A	2.37:g.103068475T>A	ENSP00000264260:p.Val545Asp		B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Missense_Mutation	SNP	ENST00000264260.2	37	CCDS2061.1	.	.	.	.	.	.	.	.	.	.	T	15.13	2.743358	0.49151	.	.	ENSG00000115607	ENST00000264260;ENST00000409369	T;T	0.07800	3.16;3.16	6.02	2.36	0.29203	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.409080	0.22957	N	0.053587	T	0.07369	0.0186	L	0.51422	1.61	0.19300	N	0.999979	P	0.42584	0.784	B	0.42522	0.39	T	0.18650	-1.0330	10	0.12430	T	0.62	.	3.9251	0.09261	0.0:0.3914:0.2101:0.3985	.	545	O95256	I18RA_HUMAN	D	545;403	ENSP00000264260:V545D;ENSP00000387201:V403D	ENSP00000264260:V545D	V	+	2	0	IL18RAP	102434907	0.000000	0.05858	0.038000	0.18304	0.871000	0.50021	0.579000	0.23788	0.516000	0.28340	0.528000	0.53228	GTT		0.453	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2	NM_003853		A	103068475	T	A	103068475	3	1	712	1	0	0	0	0	1	0	0	0	7650	1725	60	5	1672	5	IL18RAP	2	103068475	Missense_Mutation	SNP	T	TCGA-KL-8343-01A-11D-2310-10	16660034	103068475	140130898	15	39817											
SAP130	79595	broad.mit.edu;bcgsc.ca	37	2	128747329	128747329	+	Missense_Mutation	SNP	C	C	A	rs199755359		TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr2:128747329C>A	ENST00000259235.3	-	13	1796	c.1667G>T	c.(1666-1668)cGa>cTa	p.R556L	SAP130_ENST00000357702.5_Missense_Mutation_p.R556L|SAP130_ENST00000259234.6_Missense_Mutation_p.R530L	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	556					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)		TTGAATATGTCGAGCATGCGA	0.577																																																0													116	98	104					2																	128747329		2203	4300	6503	SO:0001583	missense	79595			BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"sin3A-associated protein, 130kDa"			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.1667G>T	2.37:g.128747329C>A	ENSP00000259235:p.Arg556Leu		B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Missense_Mutation	SNP	ENST00000259235.3	37	CCDS2153.1	.	.	.	.	.	.	.	.	.	.	C	18.20	3.571602	0.65765	.	.	ENSG00000136715	ENST00000357702;ENST00000259235;ENST00000259234	.	.	.	5.56	4.68	0.58851	.	0.000000	0.64402	D	0.000007	T	0.62901	0.2466	L	0.27053	0.805	0.47778	D	0.999513	D;P;P;D;P	0.71674	0.998;0.901;0.761;0.997;0.901	D;B;B;D;B	0.80764	0.994;0.338;0.272;0.98;0.372	T	0.60276	-0.7295	9	0.27785	T	0.31	-10.0439	14.5671	0.68185	0.0:0.9295:0.0:0.0705	.	556;529;556;86;194	B7ZLM3;Q96DP1;Q9H0E3;Q9H0E3-2;B3KRT9	.;.;SP130_HUMAN;.;.	L	556;556;530	.	ENSP00000259234:R530L	R	-	2	0	SAP130	128463799	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	5.225000	0.65294	1.334000	0.45468	0.655000	0.94253	CGA		0.577	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3	NM_024545		A	128747329	C	A	128747329	3	1	712	1	0	0	0	0	1	0	0	0	13837	884	31	4	1620	4	SAP130	2	128747329	Missense_Mutation	SNP	C	TCGA-KL-8343-01A-11D-2310-10	25678854	128747329	114452044	16	39818											
HSPD1	3329	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	2	198358117	198358117	+	Missense_Mutation	SNP	T	T	A			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr2:198358117T>A	ENST00000388968.3	-	7	1067	c.800A>T	c.(799-801)cAc>cTc	p.H267L	HSPD1_ENST00000345042.2_Missense_Mutation_p.H267L	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	267					'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)			AGGCTTACGGTGAGCATTGGC	0.388																																																0													112	112	112					2																	198358117		2203	4300	6503	SO:0001583	missense	3329			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.800A>T	2.37:g.198358117T>A	ENSP00000373620:p.His267Leu		B2R5M6|B7Z712|Q38L19|Q9UCR6	Missense_Mutation	SNP	ENST00000388968.3	37	CCDS33357.1	.	.	.	.	.	.	.	.	.	.	T	14.83	2.651586	0.47362	.	.	ENSG00000144381	ENST00000388968;ENST00000345042;ENST00000536745	T;T	0.77098	-1.07;-1.07	5.33	5.33	0.75918	.	0.043715	0.85682	D	0.000000	T	0.68128	0.2967	N	0.17922	0.545	0.80722	D	1	B;B;B	0.27910	0.001;0.001;0.193	B;B;B	0.31390	0.005;0.003;0.129	T	0.68667	-0.5348	10	0.59425	D	0.04	-2.7515	15.5821	0.76452	0.0:0.0:0.0:1.0	.	258;267;267	B7Z597;B3GQS7;P10809	.;.;CH60_HUMAN	L	267;267;123	ENSP00000373620:H267L;ENSP00000340019:H267L	ENSP00000340019:H267L	H	-	2	0	HSPD1	198066362	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.941000	0.87700	2.139000	0.66308	0.477000	0.44152	CAC		0.388	HSPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335324.2	NM_002156		A	198358117	T	A	198358117	3	1	712	1	0	0	0	0	1	0	0	0	7430	1696	59	5	945	5	HSPD1	2	198358117	Missense_Mutation	SNP	T	TCGA-KL-8343-01A-11D-2310-10	69610788	198358117	44841256	17	39819											
KIAA1486	57624	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	226273811	226273811	+	Missense_Mutation	SNP	T	T	A			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr2:226273811T>A	ENST00000272907.6	+	2	628	c.215T>A	c.(214-216)aTa>aAa	p.I72K	NYAP2_ENST00000409269.2_Missense_Mutation_p.I72K	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	72					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												GAAGAAGCAATAAAGCGGtaa	0.373																																																0													39	33	35					2																	226273811		1831	4072	5903	SO:0001583	missense	57624			AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"KIAA1486"	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.215T>A	2.37:g.226273811T>A	ENSP00000272907:p.Ile72Lys		A2RRN4|Q96NL2	Missense_Mutation	SNP	ENST00000272907.6	37	CCDS46529.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.173537	0.78452	.	.	ENSG00000144460	ENST00000272907;ENST00000409269	T	0.39787	1.06	5.82	5.82	0.92795	.	0.055198	0.64402	D	0.000002	T	0.54983	0.1892	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.49818	-0.8899	10	0.06494	T	0.89	-26.1855	16.1986	0.82053	0.0:0.0:0.0:1.0	.	72;72	Q9P242-2;Q9P242	.;K1486_HUMAN	K	72	ENSP00000272907:I72K	ENSP00000272907:I72K	I	+	2	0	KIAA1486	225982055	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.160000	0.77495	2.227000	0.72691	0.455000	0.32223	ATA		0.373	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		A	226273811	T	A	226273811	3	1	712	1	0	0	0	0	1	0	0	0	8239	1406	49	5	217	5	KIAA1486	2	226273811	Missense_Mutation	SNP	T	TCGA-KL-8343-01A-11D-2310-10	27915694	226273811	16925562	18	39820											
ROBO2	6092	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	3	77645803	77645803	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr3:77645803C>T	ENST00000461745.1	+	19	3656	c.2756C>T	c.(2755-2757)cCc>cTc	p.P919L	ROBO2_ENST00000487694.3_Missense_Mutation_p.P935L|ROBO2_ENST00000332191.8_Missense_Mutation_p.P919L	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	919					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)		GCTGGTGATCCCAGCTATCCA	0.458																																																0													144	140	141					3																	77645803		1863	4115	5978	SO:0001583	missense	6092			AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10250	protein-coding gene	gene with protein product		602431	"roundabout (axon guidance receptor, Drosophila) homolog 2"			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.2756C>T	3.37:g.77645803C>T	ENSP00000417164:p.Pro919Leu		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	CCDS43109.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.42|16.42	3.119351|3.119351	0.56505|0.56505	.|.	.|.	ENSG00000185008|ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191|ENST00000490991	T;T;T|T	0.62498|0.66638	0.02;0.05;0.05|-0.22	6.16|6.16	6.16|6.16	0.99307|0.99307	.|.	0.148737|0.148737	0.30989|0.30989	N|N	0.008470|0.008470	T|T	0.77980|0.77980	0.4212|0.4212	L|L	0.58101|0.58101	1.795|1.795	.|.	.|.	.|.	P;D;B|.	0.54601|.	0.883;0.967;0.047|.	B;P;B|.	0.49252|.	0.4;0.604;0.017|.	T|T	0.73528|0.73528	-0.3954|-0.3954	9|7	0.66056|0.41790	D|T	0.02|0.15	.|.	20.8598|20.8598	0.99761|0.99761	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	935;919;919|.	Q19AB5;F8W703;Q9HCK4|.	.;.;ROBO2_HUMAN|.	L|S	935;935;939;919;919|76	ENSP00000417335:P935L;ENSP00000417164:P919L;ENSP00000327536:P919L|ENSP00000418344:P76S	ENSP00000327536:P919L|ENSP00000418344:P76S	P|P	+|+	2|1	0|0	ROBO2|ROBO2	77728493|77728493	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.909000|0.909000	0.53808|0.53808	7.270000|7.270000	0.78493|0.78493	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	CCC|CCA		0.458	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		T	77645803	C	T	77645803	3	4	712	1	0	0	0	0	1	0	0	0	13520	623	22	2	2832	2	ROBO2	3	77645803	Missense_Mutation	SNP	C	TCGA-KL-8343-01A-11D-2310-10		77645803	120376627	19	39821											
POU1F1	5449	bcgsc.ca	37	3	87311219	87311219	+	Splice_Site	SNP	A	A	G			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr3:87311219A>G	ENST00000350375.2	-	4	729		c.e4+1		POU1F1_ENST00000560656.1_Intron|POU1F1_ENST00000344265.3_Splice_Site	NM_000306.2	NP_000297.1	P28069	PIT1_HUMAN	POU class 1 homeobox 1						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)		ACAATTTAGTACCTCCTACTT	0.388																																																0													119	112	115					3																	87311219		2203	4300	6503	SO:0001630	splice_region_variant	5449			D10216	CCDS2919.1, CCDS46873.1	3p11.2	2011-06-20	2007-07-13		ENSG00000064835	ENSG00000064835		"Homeoboxes / POU class"	9210	protein-coding gene	gene with protein product	"growth hormone factor 1"	173110	"POU domain class 1, transcription factor 1"	PIT1		1956794	Standard	NM_001122757		Approved	GHF-1, POU1F1a	uc010hoj.1	P28069	OTTHUMG00000158992	ENST00000350375.2:c.604+1T>C	3.37:g.87311219A>G			O75757|Q15132|Q15133|Q9UD34|Q9UEL3	Splice_Site	SNP	ENST00000350375.2	37	CCDS2919.1	.	.	.	.	.	.	.	.	.	.	A	14.52	2.560317	0.45590	.	.	ENSG00000064835	ENST00000350375;ENST00000344265	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3807	0.60766	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	POU1F1	87393909	1.000000	0.71417	0.996000	0.52242	0.541000	0.35023	7.146000	0.77373	2.257000	0.74773	0.528000	0.53228	.		0.388	POU1F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352827.1	NM_000306	Intron	G	87311219	A	G	87311219	5	3	712	1	0	0	0	0	0	0	1	0	12271	405	14	3	281	3	POU1F1	3	87311219	Splice_Site	SNP	A	TCGA-KL-8343-01A-11D-2310-10	9665416	87311219	110711211	20	39822											
ZBTB11	27107	broad.mit.edu	37	3	101395694	101395694	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr3:101395694G>A	ENST00000312938.4	-	1	645	c.65C>T	c.(64-66)gCg>gTg	p.A22V	ZBTB11-AS1_ENST00000609682.1_RNA|ZBTB11-AS1_ENST00000536865.1_RNA|ZBTB11_ENST00000461821.1_Missense_Mutation_p.A22V	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	22					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GGTGCCCGGCGCATACGGCTC	0.657																																																0													27	26	26					3																	101395694		2191	4289	6480	SO:0001583	missense	27107			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.65C>T	3.37:g.101395694G>A	ENSP00000326200:p.Ala22Val		Q2NKP9	Missense_Mutation	SNP	ENST00000312938.4	37	CCDS2943.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.066317|6.066317	0.97251|0.97251	.|.	.|.	ENSG00000066422|ENSG00000256628	ENST00000312938;ENST00000461821|ENST00000536865	T;T|.	0.62498|.	0.02;0.02|.	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	.|0.814523	.|0.09980	.|U	.|0.731163	T|T	0.71409|0.71409	0.3336|0.3336	L|L	0.55481|0.55481	1.735|1.735	0.80722|0.80722	D|D	1|1	D;D|D	0.89917|0.57257	1.0;0.992|0.979	D;P|P	0.68039|0.50049	0.955;0.609|0.629	T|T	0.71886|0.71886	-0.4457|-0.4457	9|9	0.87932|0.87932	D|D	0|0	-10.3773|-10.3773	19.8722|19.8722	0.96854|0.96854	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	22;22|69	C9J2L2;O95625|Q9BTX9	.;ZBT11_HUMAN|YC010_HUMAN	V|H	22|69	ENSP00000326200:A22V;ENSP00000417369:A22V|.	ENSP00000326200:A22V|ENSP00000444544:R69H	A|R	-|+	2|2	0|0	ZBTB11|AC084198.1	102878384|102878384	1.000000|1.000000	0.71417|0.71417	0.975000|0.975000	0.42487|0.42487	0.749000|0.749000	0.42624|0.42624	9.130000|9.130000	0.94437|0.94437	2.700000|2.700000	0.92200|0.92200	0.585000|0.585000	0.79938|0.79938	GCG|CGC		0.657	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353441.2	NM_014415		A	101395694	G	A	101395694	3	1	712	1	0	0	0	0	1	0	0	0	17529	1087	38	1	3140	1	ZBTB11	3	101395694	Missense_Mutation	SNP	G	TCGA-KL-8343-01A-11D-2310-10	14084475	101395694	96626736	21	39823											
COL6A5	256076	broad.mit.edu	37	3	130114173	130114173	+	Missense_Mutation	SNP	G	G	T			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr3:130114173G>T	ENST00000432398.2	+	8	3927	c.3433G>T	c.(3433-3435)Gtt>Ttt	p.V1145F	COL6A5_ENST00000265379.6_Missense_Mutation_p.V1145F	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	1145	Nonhelical region.|VWFA 6. {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						CATAGGAGATGTTTATAAGGA	0.373																																																0													26	24	24					3																	130114173		692	1591	2283	SO:0001583	missense	256076			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"Collagens"	26674	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 4"	611916	"collagen, type XXIX, alpha 1"	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.3433G>T	3.37:g.130114173G>T	ENSP00000390895:p.Val1145Phe		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	ENST00000432398.2	37		.	.	.	.	.	.	.	.	.	.	G	9.881	1.201710	0.22121	.	.	ENSG00000172752	ENST00000432398;ENST00000265379	T;T	0.79653	-1.29;-1.29	5.31	3.38	0.38709	.	.	.	.	.	D	0.82388	0.5026	L	0.54323	1.7	0.09310	N	1	D	0.56287	0.975	P	0.59643	0.861	T	0.70615	-0.4823	9	0.59425	D	0.04	.	3.9523	0.09374	0.0876:0.1527:0.5773:0.1824	.	1145	A8TX70-2	.	F	1145	ENSP00000390895:V1145F;ENSP00000265379:V1145F	ENSP00000265379:V1145F	V	+	1	0	COL6A5	131596863	0.250000	0.23951	0.003000	0.11579	0.472000	0.32918	1.059000	0.30517	0.505000	0.28104	0.491000	0.48974	GTT		0.373	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264		T	130114173	G	T	130114173	3	4	712	1	0	0	0	0	1	0	0	0	3704	1377	48	4	3459	4	COL6A5	3	130114173	Missense_Mutation	SNP	G	TCGA-KL-8343-01A-11D-2310-10	28718479	130114173	67908257	22	39824											
TOPBP1	11073	broad.mit.edu	37	3	133368474	133368474	+	Silent	SNP	A	A	G			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr3:133368474A>G	ENST00000260810.5	-	10	1388	c.1257T>C	c.(1255-1257)ccT>ccC	p.P419P	TOPBP1_ENST00000511439.1_5'UTR	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	419	BRCT 3. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						CCACTACATGAGGCCTACAAA	0.393								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)											0													72	66	68					3																	133368474		1875	4115	5990	SO:0001819	synonymous_variant	11073			AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.1257T>C	3.37:g.133368474A>G			B7Z7W8|Q7LGC1|Q9UEB9	Silent	SNP	ENST00000260810.5	37	CCDS46919.1																																																																																				0.393	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357254.1	NM_007027		G	133368474	A	G	133368474	2	3	712	1	0	0	0	0	0	0	0	1	16374	291	11	3		3	TOPBP1	3	133368474	Silent	SNP	A	TCGA-KL-8343-01A-11D-2310-10	3254301	133368474	64653956	23	39825											
CRIPAK	285464	bcgsc.ca	37	4	1388697	1388697	+	Missense_Mutation	SNP	C	C	T	rs113316888	byFrequency	TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr4:1388697C>T	ENST00000324803.4	+	1	3358	c.398C>T	c.(397-399)gCg>gTg	p.A133V		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	133					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)			CGTGCCCATGCGGAGTGCCCG	0.701													N|||	623	0.124401	0.1399	0.1527	5008	,	,		12463	0.2083		0.0736	False		,,,				2504	0.0491															0													57	58	58					4																	1388697		2192	4288	6480	SO:0001583	missense	285464			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.398C>T	4.37:g.1388697C>T	ENSP00000323978:p.Ala133Val		Q8NB03	Missense_Mutation	SNP	ENST00000324803.4	37	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	-	11.32	1.604146	0.28534	.	.	ENSG00000179979	ENST00000324803	T	0.18810	2.19	0.948	-1.08	0.09936	.	.	.	.	.	T	0.06645	0.0170	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34378	-0.9831	9	0.02654	T	1	.	2.1758	0.03862	0.2485:0.1979:0.0:0.5536	.	133	Q8N1N5	CRPAK_HUMAN	V	133	ENSP00000323978:A133V	ENSP00000323978:A133V	A	+	2	0	CRIPAK	1378697	0.001000	0.12720	0.001000	0.08648	0.006000	0.05464	-2.200000	0.01237	-1.804000	0.01241	-1.950000	0.00486	GCG		0.701	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		T	1388697	C	T	1388697	3	4	712	1	0	0	0	0	1	0	0	0	3879	768	27	1	400	1	CRIPAK	4	1388697	Missense_Mutation	SNP	C	TCGA-KL-8343-01A-11D-2310-10		1388697	189765579	24	39826											
UGT8	7368	hgsc.bcm.edu;ucsc.edu	37	4	115544546	115544546	+	Silent	SNP	T	T	G			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr4:115544546T>G	ENST00000310836.6	+	2	1032	c.510T>G	c.(508-510)gcT>gcG	p.A170A	UGT8_ENST00000394511.3_Silent_p.A170A	NM_001128174.1	NP_001121646	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	170					axon cargo transport (GO:0008088)|central nervous system development (GO:0007417)|cytoskeleton organization (GO:0007010)|galactosylceramide biosynthetic process (GO:0006682)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to paranode region of axon (GO:0002175)	integral component of membrane (GO:0016021)	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity (GO:0003851)|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity (GO:0008489)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		AAGTGGGTGCTCCTGCTCCAT	0.438																																																0													132	126	128					4																	115544546		2203	4300	6503	SO:0001819	synonymous_variant	7368			AK127970	CCDS3705.1	4q26	2013-02-21	2008-07-31	2005-07-20	ENSG00000174607	ENSG00000174607	2.4.1.45	"UDP glucuronosyltransferases"	12555	protein-coding gene	gene with protein product	"2-hydroxyacylsphingosine 1-beta-galactosyltransferase"	601291	"UDP-galactose ceramide galactosyltransferase"	CGT		8661025	Standard	NM_003360		Approved		uc003ibs.2	Q16880	OTTHUMG00000132915	ENST00000310836.6:c.510T>G	4.37:g.115544546T>G			B3KXU7|O00196	Silent	SNP	ENST00000310836.6	37	CCDS3705.1																																																																																				0.438	UGT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256426.2	NM_003360		G	115544546	T	G	115544546	2	3	712	1	0	0	0	0	0	0	0	1	16970	1538	54	5		5	UGT8	4	115544546	Silent	SNP	T	TCGA-KL-8343-01A-11D-2310-10	114155849	115544546	75609730	25	39827											
TKTL2	84076	broad.mit.edu;mdanderson.org;bcgsc.ca	37	4	164394497	164394497	+	Missense_Mutation	SNP	T	T	A			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr4:164394497T>A	ENST00000280605.3	-	1	550	c.390A>T	c.(388-390)ttA>ttT	p.L130F		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	130						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)				ATGCAGTACCTAATCCCTGAC	0.537																																																0													112	106	108					4																	164394497		2203	4300	6503	SO:0001583	missense	84076			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.390A>T	4.37:g.164394497T>A	ENSP00000280605:p.Leu130Phe		A4FVB4|Q8NCT0|Q96M82	Missense_Mutation	SNP	ENST00000280605.3	37	CCDS3805.1	.	.	.	.	.	.	.	.	.	.	T	8.443	0.851355	0.17034	.	.	ENSG00000151005	ENST00000280605	T	0.38401	1.14	3.75	-4.32	0.03688	Transketolase, N-terminal (1);	0.000000	0.64402	D	0.000010	T	0.51890	0.1701	M	0.77313	2.365	0.42428	D	0.992665	D	0.89917	1.0	D	0.83275	0.996	T	0.54490	-0.8286	10	0.87932	D	0	-9.7836	9.1928	0.37209	0.0:0.7609:0.1078:0.1313	.	130	Q9H0I9	TKTL2_HUMAN	F	130	ENSP00000280605:L130F	ENSP00000280605:L130F	L	-	3	2	TKTL2	164613947	0.000000	0.05858	0.004000	0.12327	0.010000	0.07245	-2.976000	0.00665	-1.026000	0.03330	-0.429000	0.05907	TTA		0.537	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365207.1	NM_032136		A	164394497	T	A	164394497	3	1	712	1	0	0	0	0	1	0	0	0	15941	1519	53	5	1494	5	TKTL2	4	164394497	Missense_Mutation	SNP	T	TCGA-KL-8343-01A-11D-2310-10	48849951	164394497	26759779	26	39828											
RNASEN	29102	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	5	31521319	31521319	+	Missense_Mutation	SNP	C	C	A			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr5:31521319C>A	ENST00000511367.2	-	5	1102	c.858G>T	c.(856-858)gaG>gaT	p.E286D	DROSHA_ENST00000442743.1_Missense_Mutation_p.E286D|DROSHA_ENST00000344624.3_Missense_Mutation_p.E286D|DROSHA_ENST00000513349.1_Missense_Mutation_p.E286D	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	286	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						CCCGTTCTCGCTCTCTTAAAG	0.403																																																0													210	193	199					5																	31521319		1884	4111	5995	SO:0001583	missense	29102			AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"drosha, ribonuclease type III", "drosha, double-stranded RNA-specific endoribonuclease"	608828	"ribonuclease type III, nuclear"	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.858G>T	5.37:g.31521319C>A	ENSP00000425979:p.Glu286Asp		E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP	ENST00000511367.2	37	CCDS47195.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.411233	0.42817	.	.	ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000382188	T;T;T;T	0.44482	1.49;1.49;0.92;0.92	5.95	4.08	0.47627	.	0.339654	0.31884	N	0.006907	T	0.20373	0.0490	N	0.08118	0	0.32783	N	0.502175	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.19844	-1.0293	10	0.18276	T	0.48	-20.681	9.2232	0.37390	0.0:0.6724:0.253:0.0746	.	286;286	E7EMP9;Q9NRR4	.;RNC_HUMAN	D	286;286;286;286;279	ENSP00000425979:E286D;ENSP00000339845:E286D;ENSP00000409335:E286D;ENSP00000424161:E286D	ENSP00000339845:E286D	E	-	3	2	DROSHA	31557076	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.805000	0.27112	1.527000	0.49086	0.655000	0.94253	GAG		0.403	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	NM_013235		A	31521319	C	A	31521319	3	1	712	1	0	0	0	0	1	0	0	0	13423	796	28	4	3390	4	RNASEN	5	31521319	Missense_Mutation	SNP	C	TCGA-KL-8343-01A-11D-2310-10		31521319	149393941	27	39829											
NIPBL	25836	broad.mit.edu	37	5	36985238	36985238	+	Silent	SNP	A	A	G			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr5:36985238A>G	ENST00000282516.8	+	10	2455	c.1956A>G	c.(1954-1956)aaA>aaG	p.K652K	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Silent_p.K652K	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	652					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)			AAGAACTTAAACAGAATGAGA	0.353																																																0													92	94	93					5																	36985238		2203	4300	6503	SO:0001819	synonymous_variant	25836			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"sister chromatid cohesion 2 homolog (yeast)"	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.1956A>G	5.37:g.36985238A>G			Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Silent	SNP	ENST00000282516.8	37	CCDS3920.1																																																																																				0.353	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		G	36985238	A	G	36985238	2	3	712	1	0	0	0	0	0	0	0	1	10430	40	2	3		3	NIPBL	5	36985238	Silent	SNP	A	TCGA-KL-8343-01A-11D-2310-10	5463919	36985238	143930022	28	39830											
DAB2	1601	broad.mit.edu	37	5	39376947	39376947	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr5:39376947T>C	ENST00000320816.6	-	12	2409	c.1942A>G	c.(1942-1944)Atc>Gtc	p.I648V	DAB2_ENST00000509337.1_Missense_Mutation_p.I627V|DAB2_ENST00000339788.6_Missense_Mutation_p.I430V|DAB2_ENST00000545653.1_Missense_Mutation_p.I627V	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	648	Sufficient for interaction with GRB2. {ECO:0000250}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			ACATCCTTGATCTCTTTATCC	0.552											OREG0016586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													56	60	58					5																	39376947		2203	4300	6503	SO:0001583	missense	1601			U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071			2662	protein-coding gene	gene with protein product		601236	"disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)", "disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)"			8660969, 9620555	Standard	NM_001343		Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.1942A>G	5.37:g.39376947T>C	ENSP00000313391:p.Ile648Val	885	A6NES5|Q13598|Q9BTY0|Q9UK04	Missense_Mutation	SNP	ENST00000320816.6	37	CCDS34149.1	.	.	.	.	.	.	.	.	.	.	T	1.817	-0.473247	0.04445	.	.	ENSG00000153071	ENST00000320816;ENST00000339788;ENST00000545653;ENST00000509337	T;T;T;T	0.38240	1.15;1.15;1.15;1.15	5.09	3.0	0.34707	.	0.380726	0.29253	N	0.012700	T	0.12732	0.0309	N	0.08118	0	0.23132	N	0.998245	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.32025	-0.9922	10	0.02654	T	1	-7.1504	4.1642	0.10298	0.0:0.4387:0.0:0.5613	.	648;627	P98082;P98082-3	DAB2_HUMAN;.	V	648;430;627;627	ENSP00000313391:I648V;ENSP00000345508:I430V;ENSP00000439919:I627V;ENSP00000426245:I627V	ENSP00000313391:I648V	I	-	1	0	DAB2	39412704	1.000000	0.71417	0.991000	0.47740	0.838000	0.47535	4.637000	0.61346	1.116000	0.41820	-0.242000	0.12053	ATC		0.552	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367014.1	NM_001343		C	39376947	T	C	39376947	3	2	712	1	0	0	0	0	1	0	0	0	4220	1435	50	3	382	3	DAB2	5	39376947	Missense_Mutation	SNP	T	TCGA-KL-8343-01A-11D-2310-10	2391709	39376947	141538313	29	39831											
MSH3	4437	broad.mit.edu;mdanderson.org	37	5	79968625	79968625	+	Silent	SNP	C	C	G			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr5:79968625C>G	ENST00000265081.6	+	6	1055	c.975C>G	c.(973-975)ctC>ctG	p.L325L		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	325					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		GAAGTTCACTCTTTTCCCGGA	0.373								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)											0													118	120	119					5																	79968625		2203	4300	6503	SO:0001819	synonymous_variant	4437			U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"Divergent upstream protein", "Mismatch repair protein 1"	600887	"mutS (E. coli) homolog 3", "mutS homolog 3 (E. coli)"				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.975C>G	5.37:g.79968625C>G			A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Silent	SNP	ENST00000265081.6	37	CCDS34195.1																																																																																				0.373	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439		G	79968625	C	G	79968625	2	3	712	1	0	0	0	0	0	0	0	1	9873	900	32	4		4	MSH3	5	79968625	Silent	SNP	C	TCGA-KL-8343-01A-11D-2310-10	40591678	79968625	100946635	30	39832											
FLT4	2324	broad.mit.edu	37	5	180048849	180048850	+	Frame_Shift_Ins	INS	-	-	GC			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr5:180048849_180048850insGC	ENST00000261937.6	-	13	1790_1791	c.1712_1713insGC	c.(1711-1713)ggcfs	p.G571fs	FLT4_ENST00000393347.3_Frame_Shift_Ins_p.G571fs|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Frame_Shift_Ins_p.G571fs	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	571	Ig-like C2-type 6.				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)	GCACCGGCTGGCCCTCTAGTAG	0.629																																					Colon(97;1075 1466 27033 27547 35871)											0																																										SO:0001589	frameshift_variant	2324			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.1712_1713insGC	5.37:g.180048849_180048850insGC	ENSP00000261937:p.Gly571fs		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Frame_Shift_Ins	INS	ENST00000261937.6	37	CCDS4457.1																																																																																				0.629	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			GC	180048850	-	GC	180048849	7	5	712	1	0	1	1	0	0	0	0	0	5946	1190	42	0	2458	0	FLT4	5	180048849	Frame_Shift_Ins	INS	-	TCGA-KL-8343-01A-11D-2310-10	100080224	180048849	866411	31	39833											
RING1	6015	ucsc.edu	37	6	33179664	33179664	+	Missense_Mutation	SNP	A	A	G	rs73741545		TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr6:33179664A>G	ENST00000374656.4	+	6	1212	c.1004A>G	c.(1003-1005)gAg>gGg	p.E335G	RING1_ENST00000478431.1_3'UTR	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	335	Gly-rich.|Necessary for interaction with CBX2. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|camera-type eye morphogenesis (GO:0048593)|histone H2A monoubiquitination (GO:0035518)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						TGTGGCGGGGAGGGTGGGGGT	0.667																																																0													17	21	19					6																	33179664		2199	4288	6487	SO:0001583	missense	6015				CCDS34424.1	6p21.3	2013-01-09			ENSG00000204227	ENSG00000204227		"RING-type (C3HC4) zinc fingers"	10018	protein-coding gene	gene with protein product		602045				1906426	Standard	NM_002931		Approved	RNF1	uc003odk.3	Q06587	OTTHUMG00000031278	ENST00000374656.4:c.1004A>G	6.37:g.33179664A>G	ENSP00000363787:p.Glu335Gly		A8JZZ0|Q5JP96|Q5SQW2|Q86V19	Missense_Mutation	SNP	ENST00000374656.4	37	CCDS34424.1	.	.	.	.	.	.	.	.	.	.	A	13.99	2.400621	0.42613	.	.	ENSG00000204227	ENST00000374656	D	0.84660	-1.88	4.04	4.04	0.47022	.	0.268117	0.27126	N	0.020812	T	0.51143	0.1657	N	0.08118	0	0.35818	D	0.824394	B	0.10296	0.003	B	0.06405	0.002	T	0.49826	-0.8898	10	0.33141	T	0.24	-38.3332	5.9934	0.19480	0.8842:0.0:0.1158:0.0	.	335	Q06587	RING1_HUMAN	G	335	ENSP00000363787:E335G	ENSP00000363787:E335G	E	+	2	0	RING1	33287642	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	3.206000	0.51098	1.674000	0.50907	0.368000	0.22195	GAG		0.667	RING1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076609.2			G	33179664	A	G	33179664	3	3	712	1	0	0	0	0	1	0	0	0	13380	304	11	3	1022	3	RING1	6	33179664	Missense_Mutation	SNP	A	TCGA-KL-8343-01A-11D-2310-10		33179664	137935403	32	39834											
CUL7	9820	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	6	43020113	43020113	+	Silent	SNP	A	A	G			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr6:43020113A>G	ENST00000265348.3	-	2	499	c.414T>C	c.(412-414)ctT>ctC	p.L138L	CUL7_ENST00000535468.1_Silent_p.L190L			Q14999	CUL7_HUMAN	cullin 7	138					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GGACAGTGTGAAGTAGAGGAG	0.562																																																0													82	66	71					6																	43020113		2203	4300	6503	SO:0001819	synonymous_variant	9820			BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"KIAA0076"	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.414T>C	6.37:g.43020113A>G			B4DYZ0|F5H0L1|Q5T654	Silent	SNP	ENST00000265348.3	37	CCDS4881.1																																																																																				0.562	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	NM_014780		G	43020113	A	G	43020113	2	3	712	1	0	0	0	0	0	0	0	1	4062	233	9	3		3	CUL7	6	43020113	Silent	SNP	A	TCGA-KL-8343-01A-11D-2310-10	9840449	43020113	128094954	33	39835											
HSP90AB1	3326	mdanderson.org	37	6	44221265	44221265	+	Missense_Mutation	SNP	C	C	A	rs200104342	byFrequency	TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr6:44221265C>A	ENST00000371554.1	+	12	2319	c.2105C>A	c.(2104-2106)gCt>gAt	p.A702D	SLC35B2_ENST00000495706.1_5'Flank|HSP90AB1_ENST00000353801.3_Missense_Mutation_p.A702D|HSP90AB1_ENST00000371646.5_Missense_Mutation_p.A702D|MIR4647_ENST00000583964.1_RNA			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	702					axon guidance (GO:0007411)|cellular response to interleukin-4 (GO:0071353)|cellular response to organic cyclic compound (GO:0071407)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|placenta development (GO:0001890)|positive regulation of cell size (GO:0045793)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein folding (GO:0006457)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to salt stress (GO:0009651)|response to unfolded protein (GO:0006986)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP binding (GO:0002135)|dATP binding (GO:0032564)|double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|poly(A) RNA binding (GO:0044822)|TPR domain binding (GO:0030911)|UTP binding (GO:0002134)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GAACCCAATGCTGCAGTTCCT	0.458											OREG0017471	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													75	76	76					6																	44221265		2203	4300	6503	SO:0001583	missense	3326			AF275719	CCDS4909.1	6p12	2011-09-02	2006-02-24	2006-02-24	ENSG00000096384	ENSG00000096384		"Heat shock proteins / HSPC"	5258	protein-coding gene	gene with protein product		140572	"heat shock 90kD protein 1, beta", "heat shock 90kDa protein 1, beta"	HSPC2, HSPCB		2768249, 16269234	Standard	NM_001271969		Approved		uc031sor.1	P08238	OTTHUMG00000014761	ENST00000371554.1:c.2105C>A	6.37:g.44221265C>A	ENSP00000360609:p.Ala702Asp	922	B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Missense_Mutation	SNP	ENST00000371554.1	37	CCDS4909.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.920870	0.52653	.	.	ENSG00000096384	ENST00000371646;ENST00000353801;ENST00000371554	T;T;T	0.09350	2.99;2.99;2.99	3.9	3.9	0.45041	.	0.750751	0.11539	U	0.553976	T	0.07188	0.0182	M	0.68593	2.085	0.51767	D	0.999931	B;B;B	0.10296	0.0;0.003;0.0	B;B;B	0.20577	0.03;0.013;0.005	T	0.05354	-1.0890	10	0.33940	T	0.23	-11.1759	12.1165	0.53868	0.0:0.9118:0.0:0.0882	.	664;692;702	B4DMA2;B4DGL0;P08238	.;.;HS90B_HUMAN	D	702	ENSP00000360709:A702D;ENSP00000325875:A702D;ENSP00000360609:A702D	ENSP00000325875:A702D	A	+	2	0	HSP90AB1	44329243	0.999000	0.42202	1.000000	0.80357	0.877000	0.50540	3.853000	0.55941	2.183000	0.69458	0.603000	0.83216	GCT		0.458	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040730.1	NM_007355		A	44221265	C	A	44221265	3	1	712	1	0	0	0	0	1	0	0	0	7404	797	28	4	2147	4	HSP90AB1	6	44221265	Missense_Mutation	SNP	C	TCGA-KL-8343-01A-11D-2310-10	1201152	44221265	126893802	34	39836											
CD109	135228	bcgsc.ca	37	6	74468723	74468723	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr6:74468723A>G	ENST00000287097.5	+	7	842	c.730A>G	c.(730-732)Aag>Gag	p.K244E	CD109_ENST00000422508.2_Missense_Mutation_p.K167E|CD109_ENST00000437994.2_Missense_Mutation_p.K244E			Q6YHK3	CD109_HUMAN	CD109 molecule	244					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TATGAATTCTAAGCATTTAAA	0.313																																																0													84	81	82					6																	74468723		2203	4297	6500	SO:0001583	missense	135228			AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"CD molecules"	21685	protein-coding gene	gene with protein product		608859	"CD109 antigen (Gov platelet alloantigens)"			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.730A>G	6.37:g.74468723A>G	ENSP00000287097:p.Lys244Glu		A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	ENST00000287097.5	37	CCDS4982.1	.	.	.	.	.	.	.	.	.	.	A	2.464	-0.323558	0.05350	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.19938	2.11;2.28;2.11	5.16	3.99	0.46301	.	1.797440	0.02279	N	0.069181	T	0.04092	0.0114	N	0.21282	0.65	0.09310	N	1	B;B;B;B	0.15141	0.012;0.003;0.0;0.004	B;B;B;B	0.15052	0.005;0.012;0.005;0.003	T	0.32107	-0.9919	10	0.07990	T	0.79	.	6.4719	0.22013	0.7626:0.1561:0.0813:0.0	.	167;244;244;244	Q6YHK3-2;Q6YHK3-3;Q6YHK3-4;Q6YHK3	.;.;.;CD109_HUMAN	E	244;167;244	ENSP00000388062:K244E;ENSP00000404475:K167E;ENSP00000287097:K244E	ENSP00000287097:K244E	K	+	1	0	CD109	74525444	0.418000	0.25440	0.297000	0.24988	0.653000	0.38743	1.828000	0.39111	0.984000	0.38629	0.379000	0.24179	AAG		0.313	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493		G	74468723	A	G	74468723	3	3	712	1	0	0	0	0	1	0	0	0	2965	363	13	3	756	3	CD109	6	74468723	Missense_Mutation	SNP	A	TCGA-KL-8343-01A-11D-2310-10	30247458	74468723	96646344	35	39837											
AEBP1	165	mdanderson.org	37	7	44147485	44147485	+	Missense_Mutation	SNP	C	C	A	rs2537188	byFrequency	TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr7:44147485C>A	ENST00000223357.3	+	5	1122	c.817C>A	c.(817-819)Ccc>Acc	p.P273T	AEBP1_ENST00000450684.2_5'Flank|MIR4649_ENST00000582839.1_RNA	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	273	Pro-rich.		P -> T (in dbSNP:rs2537188).		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						CTGGCCAGAGCCCCCTGAGGA	0.697													C|||	1790	0.357428	0.3684	0.2695	5008	,	,		13134	0.2738		0.3519	False		,,,				2504	0.4969															0								C	THR/PRO	1512,2824		285,942,941	10	13	12		817	1.4	0.1	7	dbSNP_100	12	3187,5327		639,1909,1709	no	missense	AEBP1	NM_001129.3	38	924,2851,2650	AA,AC,CC		37.4325,34.8708,36.5681	possibly-damaging	273/1159	44147485	4699,8151	2168	4257	6425	SO:0001583	missense	165			D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"aortic carboxypeptidase-like protein", "adipocyte enhancer binding protein 1"	602981	"AE-binding protein 1"			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.817C>A	7.37:g.44147485C>A	ENSP00000223357:p.Pro273Thr		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Missense_Mutation	SNP	ENST00000223357.3	37	CCDS5476.1	697	0.3191391941391941	148	0.3008130081300813	113	0.31215469613259667	155	0.270979020979021	281	0.370712401055409	C	8.109	0.778353	0.16120	0.348708	0.374325	ENSG00000106624	ENST00000223357	T	0.39997	1.05	4.54	1.41	0.22369	.	7.491200	0.00166	N	0.000008	T	0.00012	0.0000	N	0.19112	0.55	0.58432	P	9.000000000036756E-6	B	0.19817	0.039	B	0.14023	0.01	T	0.34950	-0.9808	9	0.48119	T	0.1	-0.4184	7.7789	0.29054	0.1715:0.4951:0.3335:0.0	rs2537188;rs60349212	273	Q8IUX7	AEBP1_HUMAN	T	273	ENSP00000223357:P273T	ENSP00000223357:P273T	P	+	1	0	AEBP1	44114010	0.001000	0.12720	0.074000	0.20217	0.361000	0.29550	0.387000	0.20718	0.318000	0.23185	0.491000	0.48974	CCC		0.697	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	NM_001129		A	44147485	C	A	44147485	3	1	712	1	0	0	0	0	1	0	0	0	349	739	26	4	835	4	AEBP1	7	44147485	Missense_Mutation	SNP	C	TCGA-KL-8343-01A-11D-2310-10		44147485	114991178	36	39838											
NAMPT	10135	mdanderson.org	37	7	105903965	105903965	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr7:105903965T>C	ENST00000222553.3	-	7	1149	c.842A>G	c.(841-843)tAt>tGt	p.Y281C	NAMPT_ENST00000354289.4_Missense_Mutation_p.Y281C	NM_005746.2	NP_005737.1	P43490	NAMPT_HUMAN	nicotinamide phosphoribosyltransferase	281					cell-cell signaling (GO:0007267)|circadian regulation of gene expression (GO:0032922)|NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|nicotinamide metabolic process (GO:0006769)|positive regulation of cell proliferation (GO:0008284)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|nicotinamide phosphoribosyltransferase activity (GO:0047280)|nicotinate-nucleotide diphosphorylase (carboxylating) activity (GO:0004514)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						ATAAATGTCATAGCTATCGCT	0.378																																																0													126	118	120					7																	105903965		2203	4300	6503	SO:0001583	missense	10135			U02020	CCDS5737.1	7q22.3	2012-10-02	2008-03-27	2008-03-27	ENSG00000105835	ENSG00000105835			30092	protein-coding gene	gene with protein product	"visfatin"	608764	"pre-B-cell colony enhancing factor 1"	PBEF1		8289818	Standard	NM_005746		Approved	PBEF	uc003vdq.3	P43490	OTTHUMG00000140388	ENST00000222553.3:c.842A>G	7.37:g.105903965T>C	ENSP00000222553:p.Tyr281Cys		A4D0Q9|A4D0R0|Q3KQV0|Q8WW95	Missense_Mutation	SNP	ENST00000222553.3	37	CCDS5737.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.402609	0.83230	.	.	ENSG00000105835	ENST00000222553;ENST00000354289	.	.	.	5.54	5.54	0.83059	Quinolinate phosphoribosyl transferase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.87200	0.6118	H	0.95539	3.685	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.999;1.0	D	0.91052	0.4879	9	0.87932	D	0	-0.9235	15.9649	0.79961	0.0:0.0:0.0:1.0	.	194;262;281	B7Z8W6;Q5SYT8;P43490	.;.;NAMPT_HUMAN	C	281	.	ENSP00000222553:Y281C	Y	-	2	0	NAMPT	105691201	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.655000	0.83696	2.232000	0.73038	0.533000	0.62120	TAT		0.378	NAMPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277146.1	NM_182790		C	105903965	T	C	105903965	3	2	712	1	0	0	0	0	1	0	0	0	10151	1406	49	3	653	3	NAMPT	7	105903965	Missense_Mutation	SNP	T	TCGA-KL-8343-01A-11D-2310-10	61756480	105903965	53234698	37	39839											
BCAP29	55973	mdanderson.org	37	7	107253813	107253813	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr7:107253813A>G	ENST00000005259.4	+	7	965	c.626A>G	c.(625-627)aAg>aGg	p.K209R	BCAP29_ENST00000379117.2_Missense_Mutation_p.K209R|BCAP29_ENST00000465919.1_Missense_Mutation_p.K115R|BCAP29_ENST00000445771.2_Missense_Mutation_p.K209R|BCAP29_ENST00000379119.2_Missense_Mutation_p.K209R|BCAP29_ENST00000494086.1_3'UTR|BCAP29_ENST00000379121.2_Missense_Mutation_p.K115R	NM_018844.3	NP_061332.2	Q9UHQ4	BAP29_HUMAN	B-cell receptor-associated protein 29	209					apoptotic process (GO:0006915)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|osteoblast differentiation (GO:0001649)|protein localization to endoplasmic reticulum exit site (GO:0070973)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	14						ATGGAAATGAAGATGCAGTCA	0.328																																																0													84	82	83					7																	107253813		2203	4300	6503	SO:0001583	missense	55973				CCDS34730.1, CCDS34731.1	7q22.3	2012-09-20			ENSG00000075790	ENSG00000075790			24131	protein-coding gene	gene with protein product						12477932	Standard	NM_018844		Approved	BAP29, DKFZp686M2086	uc011kma.1	Q9UHQ4	OTTHUMG00000154770	ENST00000005259.4:c.626A>G	7.37:g.107253813A>G	ENSP00000005259:p.Lys209Arg		G5E9L4|O95003	Missense_Mutation	SNP	ENST00000005259.4	37	CCDS34731.1	.	.	.	.	.	.	.	.	.	.	A	11.27	1.589608	0.28357	.	.	ENSG00000075790	ENST00000005259;ENST00000465919;ENST00000445771;ENST00000457837;ENST00000379117;ENST00000379119;ENST00000491150;ENST00000379121	T	0.44881	0.91	5.08	3.93	0.45458	.	0.183317	0.56097	D	0.000024	T	0.34948	0.0915	L	0.54908	1.71	0.58432	D	0.999997	B;B;B	0.23442	0.047;0.035;0.085	B;B;B	0.26094	0.033;0.066;0.066	T	0.10613	-1.0622	10	0.25106	T	0.35	0.119	7.3851	0.26878	0.903:0.0:0.097:0.0	.	209;209;209	G5E9L4;C9JTE9;Q9UHQ4	.;.;BAP29_HUMAN	R	209;115;209;209;209;209;166;115	ENSP00000368416:K115R	ENSP00000005259:K209R	K	+	2	0	BCAP29	107041049	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	2.274000	0.43390	0.969000	0.38237	0.454000	0.30748	AAG		0.328	BCAP29-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337011.2	NM_018844		G	107253813	A	G	107253813	3	3	712	1	0	0	0	0	1	0	0	0	1346	72	3	3	648	3	BCAP29	7	107253813	Missense_Mutation	SNP	A	TCGA-KL-8343-01A-11D-2310-10	1349848	107253813	51884850	38	39840											
PAX4	5078	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	7	127255519	127255519	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr7:127255519C>T	ENST00000341640.2	-	1	261	c.56G>A	c.(55-57)cGg>cAg	p.R19Q	PAX4_ENST00000338516.3_Missense_Mutation_p.R27Q|PAX4_ENST00000463946.1_5'UTR|PAX4_ENST00000378740.2_Missense_Mutation_p.R19Q	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	27	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						AATCTGCTGCCGGGTATCCAG	0.587																																					Ovarian(113;737 1605 7858 27720 34092)											0													84	87	86					7																	127255519		2203	4300	6503	SO:0001583	missense	5078				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.56G>A	7.37:g.127255519C>T	ENSP00000339906:p.Arg19Gln		O95161|Q6B0H0	Missense_Mutation	SNP	ENST00000341640.2	37	CCDS5797.1	.	.	.	.	.	.	.	.	.	.	C	35	5.556378	0.96514	.	.	ENSG00000106331	ENST00000341640;ENST00000338516;ENST00000378740	D;D	0.99867	-7.31;-7.31	5.73	5.73	0.89815	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	0.99864	0.9936	M	0.84846	2.72	0.54753	D	0.999986	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96679	0.9502	10	0.87932	D	0	.	17.4002	0.87458	0.0:1.0:0.0:0.0	.	19;27	O43316-4;O43316	.;PAX4_HUMAN	Q	19;27;27	ENSP00000339906:R19Q;ENSP00000344297:R27Q	ENSP00000344297:R27Q	R	-	2	0	PAX4	127042755	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	7.609000	0.82925	2.693000	0.91896	0.655000	0.94253	CGG		0.587	PAX4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349165.1			T	127255519	C	T	127255519	3	4	712	1	0	0	0	0	1	0	0	0	11483	652	23	1	1011	1	PAX4	7	127255519	Missense_Mutation	SNP	C	TCGA-KL-8343-01A-11D-2310-10	20001706	127255519	31883144	39	39841											
SSPO	23145	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	7	149486388	149486388	+	RNA	SNP	G	G	T			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr7:149486388G>T	ENST00000378016.2	+	0	4364							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)			TGCCCCCAGGGCTTGCTGGCC	0.677																																																0													23	27	26					7																	149486388		2197	4295	6492			23145			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149486388G>T			Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37																																																																																					0.677	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				T	149486388	G	T	149486388	1	4	712	0	1	0	0	0	0	0	0	0	15194	1203	42	4		4	SSPO	7	149486388	RNA	SNP	G	TCGA-KL-8343-01A-11D-2310-10	22230869	149486388	9652275	40	39842											
ZFHX4	79776	broad.mit.edu;mdanderson.org	37	8	77763344	77763344	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr8:77763344A>G	ENST00000521891.2	+	10	4635	c.4187A>G	c.(4186-4188)aAg>aGg	p.K1396R	ZFHX4_ENST00000455469.2_Missense_Mutation_p.K1351R|ZFHX4_ENST00000518282.1_Missense_Mutation_p.K1370R|ZFHX4_ENST00000050961.6_Missense_Mutation_p.K1351R	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1351					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)			CATGTCTACAAGTATCGCTGT	0.428										HNSCC(33;0.089)																																						0													93	88	90					8																	77763344		1895	4117	6012	SO:0001583	missense	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.4187A>G	8.37:g.77763344A>G	ENSP00000430497:p.Lys1396Arg		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	A	15.26	2.781160	0.49891	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.55413	0.52;0.6;0.56;0.55	4.65	4.65	0.58169	.	0.000000	0.46758	U	0.000279	T	0.71316	0.3325	M	0.76002	2.32	0.58432	D	0.999996	D;D;D	0.67145	0.993;0.996;0.996	D;D;D	0.77557	0.978;0.99;0.99	T	0.75425	-0.3322	10	0.66056	D	0.02	.	14.5713	0.68213	1.0:0.0:0.0:0.0	.	1351;1351;1396	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	R	1396;1396;1351;1351;1370	ENSP00000430497:K1396R;ENSP00000399605:K1351R;ENSP00000050961:K1351R;ENSP00000430848:K1370R	ENSP00000050961:K1351R	K	+	2	0	ZFHX4	77925899	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	9.087000	0.94110	2.096000	0.63516	0.454000	0.30748	AAG		0.428	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		G	77763344	A	G	77763344	3	3	712	1	0	0	0	0	1	0	0	0	17640	72	3	3	4221	3	ZFHX4	8	77763344	Missense_Mutation	SNP	A	TCGA-KL-8343-01A-11D-2310-10		77763344	68600678	41	39843	335	2									
ZFHX4	79776	mdanderson.org;bcgsc.ca	37	8	77763346	77763346	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr8:77763346T>C	ENST00000521891.2	+	10	4637	c.4189T>C	c.(4189-4191)Tat>Cat	p.Y1397H	ZFHX4_ENST00000455469.2_Missense_Mutation_p.Y1352H|ZFHX4_ENST00000518282.1_Missense_Mutation_p.Y1371H|ZFHX4_ENST00000050961.6_Missense_Mutation_p.Y1352H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1352					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)			TGTCTACAAGTATCGCTGTAA	0.433										HNSCC(33;0.089)																																						0													94	89	90					8																	77763346		1894	4118	6012	SO:0001583	missense	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.4189T>C	8.37:g.77763346T>C	ENSP00000430497:p.Tyr1397His		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	T	12.95	2.091083	0.36855	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.35236	1.32;1.32;1.32;1.32	4.65	4.65	0.58169	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.40469	U	0.001088	T	0.44787	0.1310	M	0.83953	2.67	0.49582	D	0.999804	B;B;B	0.14438	0.006;0.01;0.01	B;B;B	0.17722	0.005;0.019;0.019	T	0.51004	-0.8760	10	0.72032	D	0.01	.	14.5713	0.68213	0.0:0.0:0.0:1.0	.	1352;1352;1397	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	H	1397;1397;1352;1352;1371	ENSP00000430497:Y1397H;ENSP00000399605:Y1352H;ENSP00000050961:Y1352H;ENSP00000430848:Y1371H	ENSP00000050961:Y1352H	Y	+	1	0	ZFHX4	77925901	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	6.086000	0.71352	2.096000	0.63516	0.454000	0.30748	TAT		0.433	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		C	77763346	T	C	77763346	3	2	712	1	0	0	0	0	1	0	0	0	17640	1638	57	3	4223	3	ZFHX4	8	77763346	Missense_Mutation	SNP	T	TCGA-KL-8343-01A-11D-2310-10	2	77763346	68600676	42	39844	335	2									
PABPC1	26986	mdanderson.org	37	8	101730065	101730065	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr8:101730065T>C	ENST00000318607.5	-	3	1567	c.439A>G	c.(439-441)Acg>Gcg	p.T147A	PABPC1_ENST00000522387.1_Missense_Mutation_p.T115A|PABPC1_ENST00000519596.1_5'Flank|PABPC1_ENST00000519004.1_Missense_Mutation_p.T102A	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	147	RRM 2. {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)			GCTTCCTGCGTCTCAAAGTGT	0.333																																																0													92	87	89					8																	101730065		2203	4300	6503	SO:0001583	missense	26986			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.439A>G	8.37:g.101730065T>C	ENSP00000313007:p.Thr147Ala		Q15097|Q93004	Missense_Mutation	SNP	ENST00000318607.5	37	CCDS6289.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.3|20.3	3.960720|3.960720	0.74016|0.74016	.|.	.|.	ENSG00000070756|ENSG00000070756	ENST00000523555|ENST00000318607;ENST00000347137;ENST00000519004;ENST00000522387;ENST00000518196	.|D;D;T;T	.|0.87256	.|-2.23;-2.23;2.25;2.25	5.37|5.37	5.37|5.37	0.77165|0.77165	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	.|0.000000	.|0.64402	.|D	.|0.000003	D|D	0.85775|0.85775	0.5775|0.5775	L|L	0.31804|0.31804	0.96|0.96	0.58432|0.58432	D|D	0.999999|0.999999	.|P;B;P	.|0.46020	.|0.535;0.309;0.871	.|P;B;P	.|0.49451	.|0.611;0.135;0.513	D|D	0.87858|0.87858	0.2662|0.2662	5|10	.|0.87932	.|D	.|0	.|.	15.6618|15.6618	0.77193|0.77193	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|115;147;147	.|E7ERJ7;B3KT93;P11940	.|.;.;PABP1_HUMAN	G|A	93|147;147;102;115;102	.|ENSP00000313007:T147A;ENSP00000429594:T102A;ENSP00000429395:T115A;ENSP00000430159:T102A	.|ENSP00000313007:T147A	D|T	-|-	2|1	0|0	PABPC1|PABPC1	101799241|101799241	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	8.010000|8.010000	0.88615|0.88615	2.167000|2.167000	0.68274|0.68274	0.528000|0.528000	0.53228|0.53228	GAC|ACG		0.333	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568		C	101730065	T	C	101730065	3	2	712	1	0	0	0	0	1	0	0	0	11365	1667	58	3	1519	3	PABPC1	8	101730065	Missense_Mutation	SNP	T	TCGA-KL-8343-01A-11D-2310-10	23966719	101730065	44633957	43	39845											
MAL2	114569	hgsc.bcm.edu	37	8	120220776	120220776	+	Splice_Site	DEL	G	G	-	rs398009582|rs71302978		TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr8:120220776delG	ENST00000276681.6	+	1	167	c.65delG	c.(64-66)cgg>cg	p.R22fs	MAL2_ENST00000521748.1_3'UTR	NM_052886.2	NP_443118.1	Q969L2	MAL2_HUMAN	mal, T-cell differentiation protein 2 (gene/pseudogene)	22						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)			CCGCCGCCCCGGGGTCACCCT	0.771													GGG|GGGG|GGG|insertion	5008	1.0	1.0	1.0	5008	,	,		6681	1.0		1.0	False		,,,				2504	1.0															0										1571,11		785,1,5	1	1	1			0.7	0.8	8	dbSNP_130	1	4116,22		2057,2,10	no	frameshift	MAL2	NM_052886.2		2842,3,15	A1A1,A1R,RR		0.5317,0.6953,0.5769			120220776	5687,33	184	483	667	SO:0001630	splice_region_variant	114569			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.66+1G>-	8.37:g.120220776delG			B2R520|Q6ZMD9	Frame_Shift_Del	DEL	ENST00000276681.6	37																																																																																					0.771	MAL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052886	Frame_Shift_Del	-	120220776	G	-	120220776	8	5	712	1	0	1	0	1	0	0	1	0	9202	1116	39	0	67	0	MAL2	8	120220776	Splice_Site	DEL	G	TCGA-KL-8343-01A-11D-2310-10	18490711	120220776	26143246	44	39846											
TIGD5	84948	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	8	144680424	144680424	+	Silent	SNP	G	G	T			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr8:144680424G>T	ENST00000504548.2	+	1	351	c.351G>T	c.(349-351)cgG>cgT	p.R117R	EEF1D_ENST00000419152.2_5'Flank|EEF1D_ENST00000524624.1_5'Flank|EEF1D_ENST00000532400.1_5'Flank|RP11-661A12.14_ENST00000606452.1_lincRNA|EEF1D_ENST00000317198.6_5'Flank|EEF1D_ENST00000529272.1_5'Flank|EEF1D_ENST00000395119.3_5'Flank|EEF1D_ENST00000423316.2_5'Flank|EEF1D_ENST00000526838.1_5'Flank|EEF1D_ENST00000531770.1_5'Flank|EEF1D_ENST00000442189.2_5'Flank|EEF1D_ENST00000531621.1_5'Flank|TIGD5_ENST00000321385.3_Silent_p.R68R|EEF1D_ENST00000528610.1_5'Flank	NM_032862.4	NP_116251.4	Q53EQ6	TIGD5_HUMAN	tigger transposable element derived 5	117	HTH CENPB-type. {ECO:0000255|PROSITE- ProRule:PRU00583}.					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)			AGAAGATGCGGCTGGCCAACG	0.711																																																0													16	15	16					8																	144680424		2171	4274	6445	SO:0001819	synonymous_variant	84948			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.351G>T	8.37:g.144680424G>T			E7EWS2|Q6NT83|Q8N5A1|Q96JW8	Silent	SNP	ENST00000504548.2	37	CCDS6406.2																																																																																				0.711	TIGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368269.1	NM_032862		T	144680424	G	T	144680424	2	4	712	1	0	0	0	0	0	0	0	1	15904	1190	42	4		4	TIGD5	8	144680424	Silent	SNP	G	TCGA-KL-8343-01A-11D-2310-10	24459648	144680424	1683598	45	39847											
FGD3	89846	ucsc.edu	37	9	95792199	95792199	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr9:95792199A>G	ENST00000375482.3	+	15	2097	c.1601A>G	c.(1600-1602)gAg>gGg	p.E534G	FGD3_ENST00000416701.2_Missense_Mutation_p.E534G|FGD3_ENST00000337352.6_Missense_Mutation_p.E534G|FGD3_ENST00000538555.1_Missense_Mutation_p.E137G	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	534					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						CGTGACAAGGAGAAGCAGAGC	0.537																																																0													111	115	114					9																	95792199		2094	4227	6321	SO:0001583	missense	89846			AK000004	CCDS43849.1, CCDS69619.1	9q22	2013-01-10	2004-08-24		ENSG00000127084	ENSG00000127084		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	16027	protein-coding gene	gene with protein product			"FGD1 family, member 3"			11214971	Standard	NM_001083536		Approved	FLJ00004, ZFYVE5	uc004asz.2	Q5JSP0	OTTHUMG00000021032	ENST00000375482.3:c.1601A>G	9.37:g.95792199A>G	ENSP00000364631:p.Glu534Gly		F8W7P2|Q4VX84|Q7Z7D9|Q8N5G1	Missense_Mutation	SNP	ENST00000375482.3	37	CCDS43849.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.171529	0.78452	.	.	ENSG00000127084	ENST00000375482;ENST00000416701;ENST00000337352;ENST00000538555	T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8	4.64	4.64	0.57946	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.33057	N	0.005326	D	0.83151	0.5192	M	0.64630	1.985	0.52501	D	0.999958	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.995	D	0.84793	0.0780	10	0.72032	D	0.01	.	12.3041	0.54891	1.0:0.0:0.0:0.0	.	534;534	F8W7P2;Q5JSP0	.;FGD3_HUMAN	G	534;534;534;137	ENSP00000364631:E534G;ENSP00000413833:E534G;ENSP00000336914:E534G;ENSP00000442560:E137G	ENSP00000336914:E534G	E	+	2	0	FGD3	94832020	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.006000	0.76329	1.875000	0.54330	0.459000	0.35465	GAG		0.537	FGD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055493.1	NM_033086		G	95792199	A	G	95792199	3	3	712	1	0	0	0	0	1	0	0	0	5836	304	11	3	1651	3	FGD3	9	95792199	Missense_Mutation	SNP	A	TCGA-KL-8343-01A-11D-2310-10		95792199	45421232	46	39848											
PFKFB3	5209	ucsc.edu	37	10	6261653	6261653	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr10:6261653A>G	ENST00000379775.4	+	7	950	c.620A>G	c.(619-621)gAc>gGc	p.D207G	PFKFB3_ENST00000317350.4_Missense_Mutation_p.D207G|PFKFB3_ENST00000540253.1_Missense_Mutation_p.D221G|PFKFB3_ENST00000379789.4_Missense_Mutation_p.D187G|PFKFB3_ENST00000379785.1_Missense_Mutation_p.D207G|PFKFB3_ENST00000536985.1_3'UTR|PFKFB3_ENST00000360521.2_Missense_Mutation_p.D207G|PFKFB3_ENST00000379782.3_Missense_Mutation_p.D207G	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	207	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						GACAAATGCGACAGGTGATTC	0.507																																																0													69	68	69					10																	6261653		2203	4300	6503	SO:0001583	missense	5209				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.620A>G	10.37:g.6261653A>G	ENSP00000369100:p.Asp207Gly		B7Z955|O43622|O75902|Q5VX15|Q5VX18|Q5VX19	Missense_Mutation	SNP	ENST00000379775.4	37	CCDS7078.1	.	.	.	.	.	.	.	.	.	.	A	19.07	3.755617	0.69648	.	.	ENSG00000170525	ENST00000379789;ENST00000540253;ENST00000317350;ENST00000379785;ENST00000379782;ENST00000360521;ENST00000379775;ENST00000358499	.	.	.	5.56	5.56	0.83823	6-phosphofructo-2-kinase (1);	0.000000	0.85682	D	0.000000	D	0.84061	0.5389	M	0.86805	2.84	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.997;0.999	D;D;D;D	0.97110	1.0;0.999;0.973;0.999	D	0.87133	0.2198	9	0.87932	D	0	-4.2194	15.7063	0.77583	1.0:0.0:0.0:0.0	.	221;207;207;187	B7Z955;Q16875-2;Q16875;Q5VX15	.;.;F263_HUMAN;.	G	187;221;207;207;207;207;207;207	.	ENSP00000369105:D207G	D	+	2	0	PFKFB3	6301659	1.000000	0.71417	0.982000	0.44146	0.229000	0.25112	9.097000	0.94193	2.111000	0.64477	0.482000	0.46254	GAC		0.507	PFKFB3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046647.1			G	6261653	A	G	6261653	3	3	712	1	0	0	0	0	1	0	0	0	11764	275	10	3	666	3	PFKFB3	10	6261653	Missense_Mutation	SNP	A	TCGA-KL-8343-01A-11D-2310-10		6261653	129273094	47	39849											
CHST3	9469	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	10	73767938	73767938	+	Silent	SNP	C	C	T			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr10:73767938C>T	ENST00000373115.4	+	3	1586	c.1149C>T	c.(1147-1149)cgC>cgT	p.R383R		NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN	carbohydrate (chondroitin 6) sulfotransferase 3	383					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						AGAAGGCCCGCGAGATGTACC	0.701																																																0													8	9	9					10																	73767938		2054	4025	6079	SO:0001819	synonymous_variant	9469			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.1149C>T	10.37:g.73767938C>T			O75099|Q52M30	Silent	SNP	ENST00000373115.4	37	CCDS7312.1																																																																																				0.701	CHST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048563.1	NM_004273		T	73767938	C	T	73767938	2	4	712	1	0	0	0	0	0	0	0	1	3407	755	27	1		1	CHST3	10	73767938	Silent	SNP	C	TCGA-KL-8343-01A-11D-2310-10	67506285	73767938	61766809	48	39850											
KIF11	3832	ucsc.edu	37	10	94399586	94399586	+	Silent	SNP	A	A	G			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr10:94399586A>G	ENST00000260731.3	+	17	2286	c.2196A>G	c.(2194-2196)agA>agG	p.R732R		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	732					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|chromosome segregation (GO:0007059)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|spindle assembly involved in mitosis (GO:0090307)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGACAGAGAGATTCTGTGCTT	0.333																																					Colon(47;212 1003 2764 4062 8431)											0													109	117	114					10																	94399586		2203	4297	6500	SO:0001819	synonymous_variant	3832			X85137	CCDS7422.1	10q24.1	2008-03-03	2003-01-09	2003-01-10	ENSG00000138160	ENSG00000138160		"Kinesins"	6388	protein-coding gene	gene with protein product		148760	"kinesin-like 1"	KNSL1		1505978, 8548803	Standard	NM_004523		Approved	Eg5, HKSP, TRIP5	uc001kic.3	P52732	OTTHUMG00000018761	ENST00000260731.3:c.2196A>G	10.37:g.94399586A>G			A0AV49|B2RMV3|Q15716|Q5VWX0	Silent	SNP	ENST00000260731.3	37	CCDS7422.1																																																																																				0.333	KIF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049401.1	NM_004523		G	94399586	A	G	94399586	2	3	712	1	0	0	0	0	0	0	0	1	8274	330	12	3		3	KIF11	10	94399586	Silent	SNP	A	TCGA-KL-8343-01A-11D-2310-10	20631648	94399586	41135161	49	39851											
NLRP6	171389	broad.mit.edu;mdanderson.org;bcgsc.ca	37	11	281811	281811	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr11:281811C>T	ENST00000312165.5	+	4	2077	c.2077C>T	c.(2077-2079)Cgg>Tgg	p.R693W	NLRP6_ENST00000534750.1_Missense_Mutation_p.R693W	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	693					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)		CCTGGGGAAGCGGCTCCAGGC	0.617																																																0													27	34	32					11																	281811		2200	4296	6496	SO:0001583	missense	171389			AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"Nucleotide-binding domain and leucine rich repeat containing"	22944	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"	609650	"NACHT, leucine rich repeat and PYD containing 6"	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.2077C>T	11.37:g.281811C>T	ENSP00000309767:p.Arg693Trp		A8K9F3|E9PJZ8	Missense_Mutation	SNP	ENST00000312165.5	37	CCDS7693.1	.	.	.	.	.	.	.	.	.	.	C	13.05	2.120457	0.37436	.	.	ENSG00000174885	ENST00000534750;ENST00000312165	T;T	0.75050	-0.9;-0.86	3.22	-0.952	0.10366	.	5.443360	0.00881	U	0.002125	D	0.83115	0.5184	M	0.63428	1.95	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.967;0.99	T	0.64694	-0.6347	10	0.62326	D	0.03	.	6.2588	0.20889	0.0:0.4948:0.0:0.5052	.	693;693	E9PJZ8;P59044	.;NALP6_HUMAN	W	693	ENSP00000433617:R693W;ENSP00000309767:R693W	ENSP00000309767:R693W	R	+	1	2	NLRP6	271811	0.001000	0.12720	0.001000	0.08648	0.751000	0.42716	-0.508000	0.06344	-0.183000	0.10585	0.462000	0.41574	CGG		0.617	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239283.1	NM_138329		T	281811	C	T	281811	3	4	712	1	0	0	0	0	1	0	0	0	10483	759	27	1	2091	1	NLRP6	11	281811	Missense_Mutation	SNP	C	TCGA-KL-8343-01A-11D-2310-10		281811	134724705	50	39852											
DEAF1	10522	broad.mit.edu	37	11	694933	694934	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr11:694933_694934insAG	ENST00000382409.3	-	1	598_599	c.114_115insCT	c.(112-117)gaggagfs	p.E39fs	DEAF1_ENST00000338675.6_Frame_Shift_Ins_p.E39fs|TMEM80_ENST00000397512.3_5'Flank|TMEM80_ENST00000397510.3_5'Flank|TMEM80_ENST00000608174.1_5'Flank	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	39	Ala-rich.				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)		AGCACCGGCTCCTCCGCCTCGC	0.782																																																0																																										SO:0001589	frameshift_variant	10522			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.114_115insCT	11.37:g.694933_694934insAG	ENSP00000371846:p.Glu39fs		A8K1F8|A8K5R8|C7T5V5|O15152|O75399|O75510|O75511|O75512|O75513|Q9UET1	Frame_Shift_Ins	INS	ENST00000382409.3	37	CCDS31327.1																																																																																				0.782	DEAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383614.3	NM_021008		AG	694934	-	AG	694933	7	5	712	1	0	1	1	0	0	0	0	0	4382	864	30	0	1630	0	DEAF1	11	694933	Frame_Shift_Ins	INS	-	TCGA-KL-8343-01A-11D-2310-10	413122	694933	134311583	51	39853											
CTSD	1509	broad.mit.edu;mdanderson.org;bcgsc.ca	37	11	1774767	1774767	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr11:1774767T>C	ENST00000236671.2	-	9	1337	c.1205A>G	c.(1204-1206)aAc>aGc	p.N402S	IFITM10_ENST00000340134.4_5'Flank|RP11-295K3.1_ENST00000427721.1_Intron	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	402					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|autophagic vacuole assembly (GO:0000045)|cell death (GO:0008219)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(1)|large_intestine(4)|lung(8)	13		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;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	GCCCACCCTGTTGTTGTCACG	0.652																																																0													54	59	57					11																	1774767		2202	4298	6500	SO:0001583	missense	1509			M11233	CCDS7725.1	11p15.5	2009-06-26	2006-12-05		ENSG00000117984	ENSG00000117984	3.4.23.5	"Cathepsins"	2529	protein-coding gene	gene with protein product	"ceroid-lipofuscinosis, neuronal 10"	116840	"cathepsin D (lysosomal aspartyl protease)"	CPSD		3927292	Standard	NM_001909		Approved	CLN10	uc001luc.2	P07339	OTTHUMG00000044760	ENST00000236671.2:c.1205A>G	11.37:g.1774767T>C	ENSP00000236671:p.Asn402Ser		Q6IB57	Missense_Mutation	SNP	ENST00000236671.2	37	CCDS7725.1	.	.	.	.	.	.	.	.	.	.	t	15.40	2.823084	0.50739	.	.	ENSG00000117984	ENST00000236671;ENST00000429746	T;T	0.59224	0.28;0.33	3.75	3.75	0.43078	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.250635	0.43416	D	0.000580	T	0.56352	0.1979	M	0.64404	1.975	0.58432	D	0.999999	P	0.45531	0.86	B	0.43082	0.407	T	0.61217	-0.7107	10	0.45353	T	0.12	.	12.9513	0.58403	0.0:0.0:0.0:1.0	.	402	P07339	CATD_HUMAN	S	402;179	ENSP00000236671:N402S;ENSP00000402586:N179S	ENSP00000236671:N402S	N	-	2	0	CTSD	1731343	1.000000	0.71417	0.550000	0.28217	0.558000	0.35554	7.268000	0.78473	1.721000	0.51461	0.254000	0.18369	AAC		0.652	CTSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104272.5	NM_001909		C	1774767	T	C	1774767	3	2	712	1	0	0	0	0	1	0	0	0	4034	1725	60	3	37	3	CTSD	11	1774767	Missense_Mutation	SNP	T	TCGA-KL-8343-01A-11D-2310-10	1079834	1774767	133231749	52	39854											
MICALCL	84953	broad.mit.edu	37	11	12315174	12315175	+	Frame_Shift_Ins	INS	-	-	G	rs148792670	byFrequency	TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr11:12315174_12315175insG	ENST00000256186.2	+	3	487_488	c.196_197insG	c.(196-198)cggfs	p.R66fs		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	66	Interaction with MAPK1. {ECO:0000250}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)	p.R66W(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		CCCAAACTTTCGGAGGCGAGCC	0.55																																																1	Substitution - Missense(1)	endometrium(1)																																								SO:0001589	frameshift_variant	84953			BK000463	CCDS41620.1	11p15.3	2005-11-01			ENSG00000133808	ENSG00000133808			25933	protein-coding gene	gene with protein product		612355				12110185	Standard	NM_032867		Approved	FLJ14966	uc001mkg.1	Q6ZW33	OTTHUMG00000165777	ENST00000256186.2:c.198dupG	11.37:g.12315176_12315176dupG	ENSP00000256186:p.Arg66fs		Q7RTP7|Q96JU6	Frame_Shift_Ins	INS	ENST00000256186.2	37	CCDS41620.1																																																																																				0.55	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386164.1	NM_032867		G	12315175	-	G	12315174	7	5	712	1	0	1	1	0	0	0	0	0	9574	875	31	0	202	0	MICALCL	11	12315174	Frame_Shift_Ins	INS	-	TCGA-KL-8343-01A-11D-2310-10	10540407	12315174	122691342	53	39855											
RCN1	5954	broad.mit.edu;hgsc.bcm.edu	37	11	32118784	32118784	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr11:32118784delT	ENST00000054950.3	+	2	642	c.349delT	c.(349-351)tttfs	p.F117fs	RCN1_ENST00000532942.1_Frame_Shift_Del_p.F66fs|RP1-65P5.3_ENST00000533009.1_RNA	NM_002901.2	NP_002892.1	Q15293	RCN1_HUMAN	reticulocalbin 1, EF-hand calcium binding domain	117	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.		F -> L (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		camera-type eye development (GO:0043010)|in utero embryonic development (GO:0001701)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	calcium ion binding (GO:0005509)			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)	17	Lung SC(675;0.225)					AAGATACATCTTTGATAATGT	0.428																																																0													62	57	59					11																	32118784		2202	4296	6498	SO:0001589	frameshift_variant	5954			D42073	CCDS7876.1	11p13	2013-01-10			ENSG00000049449	ENSG00000049449		"EF-hand domain containing"	9934	protein-coding gene	gene with protein product	"proliferation-inducing gene 20"	602735		RCN		9192846, 8586628	Standard	NM_002901		Approved	Rcal, PIG20, FLJ37041	uc010reb.2	Q15293		ENST00000054950.3:c.349delT	11.37:g.32118784delT	ENSP00000054950:p.Phe117fs		B7Z1M1|D3DR00	Frame_Shift_Del	DEL	ENST00000054950.3	37	CCDS7876.1																																																																																				0.428	RCN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388510.1	NM_002901		-	32118784	T	-	32118784	7	5	712	1	0	1	0	1	0	0	0	0	13185	1609	56	0	355	0	RCN1	11	32118784	Frame_Shift_Del	DEL	T	TCGA-KL-8343-01A-11D-2310-10	19803610	32118784	102887732	54	39856	336	2									
RCN1	5954	bcgsc.ca	37	11	32118785	32118785	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr11:32118785delT	ENST00000054950.3	+	2	643	c.350delT	c.(349-351)tttfs	p.F117fs	RCN1_ENST00000532942.1_Frame_Shift_Del_p.F66fs|RP1-65P5.3_ENST00000533009.1_RNA	NM_002901.2	NP_002892.1	Q15293	RCN1_HUMAN	reticulocalbin 1, EF-hand calcium binding domain	117	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.		F -> L (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		camera-type eye development (GO:0043010)|in utero embryonic development (GO:0001701)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	calcium ion binding (GO:0005509)			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)	17	Lung SC(675;0.225)					AGATACATCTTTGATAATGTC	0.423																																																0													63	57	59					11																	32118785		2202	4296	6498	SO:0001589	frameshift_variant	5954			D42073	CCDS7876.1	11p13	2013-01-10			ENSG00000049449	ENSG00000049449		"EF-hand domain containing"	9934	protein-coding gene	gene with protein product	"proliferation-inducing gene 20"	602735		RCN		9192846, 8586628	Standard	NM_002901		Approved	Rcal, PIG20, FLJ37041	uc010reb.2	Q15293		ENST00000054950.3:c.350delT	11.37:g.32118785delT	ENSP00000054950:p.Phe117fs		B7Z1M1|D3DR00	Frame_Shift_Del	DEL	ENST00000054950.3	37	CCDS7876.1																																																																																				0.423	RCN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388510.1	NM_002901		-	32118785	T	-	32118785	7	5	712	1	0	1	0	1	0	0	0	0	13185	1841	64	0	356	0	RCN1	11	32118785	Frame_Shift_Del	DEL	T	TCGA-KL-8343-01A-11D-2310-10	1	32118785	102887731	55	39857	336	2									
SLC25A45	283130	mdanderson.org;bcgsc.ca	37	11	65144406	65144406	+	Missense_Mutation	SNP	G	G	A	rs34377244	byFrequency	TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr11:65144406G>A	ENST00000527174.1	-	5	536	c.481C>T	c.(481-483)Cgg>Tgg	p.R161W	SLC25A45_ENST00000398802.1_Missense_Mutation_p.R161W|SLC25A45_ENST00000360662.3_Missense_Mutation_p.R137W|SLC25A45_ENST00000377152.2_Missense_Mutation_p.R57W|RP11-867O8.5_ENST00000533886.1_RNA|SLC25A45_ENST00000534028.1_Missense_Mutation_p.R137W|SLC25A45_ENST00000526432.1_Missense_Mutation_p.R99W|SLC25A45_ENST00000294187.6_Missense_Mutation_p.R119W|SLC25A45_ENST00000417511.2_Missense_Mutation_p.R119W			Q8N413	S2545_HUMAN	solute carrier family 25, member 45	161					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						AACAGCCCCCGGGGCCCCTCC	0.672													G|||	26	0.00519169	0.0182	0.0029	5008	,	,		14885	0.0		0.0	False		,,,				2504	0.0															0								G	TRP/ARG,TRP/ARG	39,3711		0,39,1836	38	42	40		355,481	1	0.2	11	dbSNP_126	40	0,8204		0,0,4102	no	missense,missense	SLC25A45	NM_001077241.1,NM_182556.2	101,101	0,39,5938	AA,AG,GG		0.0,1.04,0.3263	benign,benign	119/247,161/289	65144406	39,11915	1875	4102	5977	SO:0001583	missense	283130			BC041100	CCDS41670.1, CCDS41671.1, CCDS60850.1	11q13.1	2013-05-22			ENSG00000162241	ENSG00000162241		"Solute carriers"	27442	protein-coding gene	gene with protein product		610825				16949250	Standard	XM_006718507		Approved		uc001odr.1	Q8N413	OTTHUMG00000166255	ENST00000527174.1:c.481C>T	11.37:g.65144406G>A	ENSP00000435489:p.Arg161Trp		Q6PL49|Q8IW29	Missense_Mutation	SNP	ENST00000527174.1	37	CCDS41670.1	14	0.00641025641025641	9	0.018292682926829267	5	0.013812154696132596	0	0.0	0	0.0	G	11.01	1.514063	0.27123	0.0104	0.0	ENSG00000162241	ENST00000527174;ENST00000534028;ENST00000398802;ENST00000360662;ENST00000377152;ENST00000294187;ENST00000417511;ENST00000526432	T;T;T;T;T;T;T;T	0.80909	-1.43;-1.43;-1.43;-1.43;-1.43;-1.43;-1.43;-1.43	5.23	1.02	0.19986	Mitochondrial carrier domain (2);	0.754501	0.12173	N	0.492860	T	0.64789	0.2630	M	0.83118	2.625	0.09310	N	1	B;B;B	0.22800	0.027;0.027;0.075	B;B;B	0.21546	0.029;0.013;0.035	T	0.63229	-0.6684	10	0.40728	T	0.16	-1.2411	3.8445	0.08928	0.2378:0.0:0.4608:0.3015	rs34377244	99;137;161	E9PJQ3;Q8N413-4;Q8N413	.;.;S2545_HUMAN	W	161;137;161;137;57;119;119;99	ENSP00000435489:R161W;ENSP00000431769:R137W;ENSP00000381782:R161W;ENSP00000353879:R137W;ENSP00000366357:R57W;ENSP00000294187:R119W;ENSP00000407530:R119W;ENSP00000435547:R99W	ENSP00000294187:R119W	R	-	1	2	SLC25A45	64900982	0.000000	0.05858	0.177000	0.23020	0.632000	0.37999	0.441000	0.21611	0.267000	0.21916	0.561000	0.74099	CGG		0.672	SLC25A45-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388744.3	NM_182556		A	65144406	G	A	65144406	3	1	712	1	0	0	0	0	1	0	0	0	14516	1115	39	1	393	1	SLC25A45	11	65144406	Missense_Mutation	SNP	G	TCGA-KL-8343-01A-11D-2310-10	33025621	65144406	69862110	56	39858											
CHRDL2	25884	broad.mit.edu;hgsc.bcm.edu	37	11	74408313	74408316	+	Frame_Shift_Del	DEL	CTTT	CTTT	-			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	CTTT	CTTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr11:74408313_74408316delCTTT	ENST00000376332.3	-	10	1643_1646	c.1147_1150delAAAG	c.(1147-1152)aaagtcfs	p.KV383fs	CHRDL2_ENST00000263671.5_Frame_Shift_Del_p.ES401fs	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	383					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)					TGCTTCCTGACTTTCTTGATCTGA	0.544																																																0																																										SO:0001589	frameshift_variant	25884			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.1147_1150delAAAG	11.37:g.74408313_74408316delCTTT	ENSP00000365510:p.Lys383fs		A5PKU9|Q6WN30|Q6WN31|Q6WN32|Q7Z5J3	Frame_Shift_Del	DEL	ENST00000376332.3	37																																																																																					0.544	CHRDL2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000385391.1			-	74408316	CTTT	-	74408313	7	5	712	1	0	1	0	1	0	0	0	0	3376	565	20	0	158	0	CHRDL2	11	74408313	Frame_Shift_Del	DEL	CTTT	TCGA-KL-8343-01A-11D-2310-10	9263907	74408313	60598203	57	39859	337	2									
CHRDL2	25884	bcgsc.ca	37	11	74408314	74408317	+	Frame_Shift_Del	DEL	CTTT	CTTT	-			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	CTTT	CTTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr11:74408314_74408317delCTTT	ENST00000376332.3	-	10	1642_1645	c.1146_1149delAAAG	c.(1144-1149)aaaaagfs	p.KK382fs	CHRDL2_ENST00000263671.5_Frame_Shift_Del_p.KG401fs	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	382					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)					GCTTCCTGACTTTCTTGATCTGAG	0.544																																																0																																										SO:0001589	frameshift_variant	25884			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.1146_1149delAAAG	11.37:g.74408314_74408317delCTTT	ENSP00000365510:p.Lys382fs		A5PKU9|Q6WN30|Q6WN31|Q6WN32|Q7Z5J3	Frame_Shift_Del	DEL	ENST00000376332.3	37																																																																																					0.544	CHRDL2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000385391.1			-	74408317	CTTT	-	74408314	7	5	712	1	0	1	0	1	0	0	0	0	3376	1609	56	0	159	0	CHRDL2	11	74408314	Frame_Shift_Del	DEL	CTTT	TCGA-KL-8343-01A-11D-2310-10	1	74408314	60598202	58	39860	337	2									
FOLH1B	219595	broad.mit.edu	37	11	89420569	89420569	+	RNA	DEL	A	A	-			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr11:89420569delA	ENST00000532352.1	+	0	1384							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						AAGTTGGACTAAAAAAAGTCC	0.343																																																0													57	59	58					11																	89420569		2201	4296	6497			219595			AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"prostate specific membrane antigen like protein", "Cell growth-inhibiting gene 26 protein", "glutamate carboxypeptidase III"	609020	"folate hydrolase 2"	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89420569delA				Frame_Shift_Del	DEL	ENST00000532352.1	37																																																																																					0.343	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		-	89420569	A	-	89420569	6	5	712	0	1	1	0	1	0	0	0	0	5982	363	13	0		0	FOLH1B	11	89420569	RNA	DEL	A	TCGA-KL-8343-01A-11D-2310-10	15012255	89420569	45585947	59	39861											
TRIM49	57093	mdanderson.org	37	11	89537461	89537461	+	Silent	SNP	G	G	T	rs368472876		TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr11:89537461G>T	ENST00000329758.1	-	3	505	c.177C>A	c.(175-177)acC>acA	p.T59T	TRIM49_ENST00000532501.2_Silent_p.T59T	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN	tripartite motif containing 49	59						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TTATCTGCTCGGTTGACTTTG	0.458																																																0													140	125	130					11																	89537461		2191	4297	6488	SO:0001819	synonymous_variant	57093			AB037682	CCDS8287.1	11p11.12-q12	2012-05-21	2011-01-25	2004-11-17	ENSG00000168930	ENSG00000168930		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	13431	protein-coding gene	gene with protein product		606124	"ring finger protein 18", "tripartite motif-containing 49"	RNF18		11018261	Standard	NM_020358		Approved	TRIM49A	uc001pdb.3	P0CI25		ENST00000329758.1:c.177C>A	11.37:g.89537461G>T			A0AVR7|A0AVR9|Q6DJV1|Q9NS80	Silent	SNP	ENST00000329758.1	37	CCDS8287.1																																																																																				0.458	TRIM49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395435.1	NM_020358		T	89537461	G	T	89537461	2	4	712	1	0	0	0	0	0	0	0	1	16529	1103	39	4		4	TRIM49	11	89537461	Silent	SNP	G	TCGA-KL-8343-01A-11D-2310-10	116892	89537461	45469055	60	39862											
ETNK1	55500	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	12	22824236	22824236	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr12:22824236C>T	ENST00000266517.4	+	5	1087	c.998C>T	c.(997-999)tCt>tTt	p.S333F		NM_018638.4	NP_061108.2	Q9HBU6	EKI1_HUMAN	ethanolamine kinase 1	333					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|ethanolamine kinase activity (GO:0004305)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TATGAATATTCTGGATACAAC	0.303																																					Esophageal Squamous(42;87 913 3224 6226 43339)											0													159	174	169					12																	22824236		2203	4299	6502	SO:0001583	missense	55500			BC006111	CCDS8698.1, CCDS41760.1	12p12.2	2004-07-09			ENSG00000139163	ENSG00000139163			24649	protein-coding gene	gene with protein product		609858				11912161, 11044454	Standard	XM_005253420		Approved	EKI1, EKI	uc001rft.3	Q9HBU6	OTTHUMG00000169008	ENST00000266517.4:c.998C>T	12.37:g.22824236C>T	ENSP00000266517:p.Ser333Phe		G5E969	Missense_Mutation	SNP	ENST00000266517.4	37	CCDS8698.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.919183	0.52546	.	.	ENSG00000139163	ENST00000266517;ENST00000381409	T	0.63096	-0.02	5.26	4.35	0.52113	Protein kinase-like domain (1);Choline/ethanolamine kinase (1);	0.282916	0.34555	N	0.003879	T	0.70937	0.3281	M	0.75777	2.31	0.80722	D	1	P;B	0.41498	0.752;0.411	P;B	0.49140	0.601;0.315	T	0.74833	-0.3530	10	0.87932	D	0	-2.5583	13.4388	0.61101	0.0:0.7:0.3:0.0	.	333;333	E9PD44;Q9HBU6	.;EKI1_HUMAN	F	333	ENSP00000266517:S333F	ENSP00000266517:S333F	S	+	2	0	ETNK1	22715503	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.224000	0.51238	1.184000	0.42957	0.460000	0.39030	TCT		0.303	ETNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401926.2	NM_018638		T	22824236	C	T	22824236	3	4	712	1	0	0	0	0	1	0	0	0	5275	913	32	2	1114	2	ETNK1	12	22824236	Missense_Mutation	SNP	C	TCGA-KL-8343-01A-11D-2310-10		22824236	111027659	61	39863											
KRT77	374454	broad.mit.edu;bcgsc.ca	37	12	53084953	53084953	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr12:53084953T>C	ENST00000341809.3	-	9	1761	c.1733A>G	c.(1732-1734)gAg>gGg	p.E578G	RP11-641A6.3_ENST00000547533.1_RNA|KRT77_ENST00000537195.1_Missense_Mutation_p.E345G	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN	keratin 77	578	Tail.					cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						AGGCCTCTACTCCAAGATCCG	0.637																																																0													51	43	46					12																	53084953		2199	4292	6491	SO:0001583	missense	374454			BK000975	CCDS8837.1	12q13.13	2013-06-25	2006-07-17	2006-07-17	ENSG00000189182	ENSG00000189182		"-", "Intermediate filaments type II, keratins (basic)"	20411	protein-coding gene	gene with protein product		611158	"keratin 1B"	KRT1B		11683385, 16831889	Standard	NM_175078		Approved		uc001saw.3	Q7Z794	OTTHUMG00000169450	ENST00000341809.3:c.1733A>G	12.37:g.53084953T>C	ENSP00000342710:p.Glu578Gly		Q7RTS8	Missense_Mutation	SNP	ENST00000341809.3	37	CCDS8837.1	.	.	.	.	.	.	.	.	.	.	T	14.72	2.619576	0.46736	.	.	ENSG00000189182	ENST00000341809;ENST00000537195	D;D	0.84298	-1.83;-1.54	3.63	1.21	0.21127	.	.	.	.	.	T	0.68430	0.3000	N	0.08118	0	0.25508	N	0.987483	B	0.14012	0.009	B	0.10450	0.005	T	0.58853	-0.7563	9	0.87932	D	0	.	5.486	0.16749	0.0:0.253:0.0:0.747	.	578	Q7Z794	K2C1B_HUMAN	G	578;345	ENSP00000342710:E578G;ENSP00000440803:E345G	ENSP00000342710:E578G	E	-	2	0	KRT77	51371220	1.000000	0.71417	0.840000	0.33206	0.122000	0.20287	1.758000	0.38410	0.125000	0.18397	0.454000	0.30748	GAG		0.637	KRT77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404111.1	NM_175078		C	53084953	T	C	53084953	3	2	712	1	0	0	0	0	1	0	0	0	8492	1551	54	3	7	3	KRT77	12	53084953	Missense_Mutation	SNP	T	TCGA-KL-8343-01A-11D-2310-10	30260717	53084953	80766942	62	39864											
LRRC43	254050	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	12	122672370	122672370	+	Silent	SNP	C	C	T			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr12:122672370C>T	ENST00000339777.4	+	4	673	c.645C>T	c.(643-645)taC>taT	p.Y215Y	LRRC43_ENST00000425921.1_Silent_p.Y30Y	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	215										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)		AAAGTCTCTACGTCACCGCTA	0.557																																																0													63	64	64					12																	122672370		1930	4135	6065	SO:0001819	synonymous_variant	254050			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.645C>T	12.37:g.122672370C>T			Q6ZVT9	Silent	SNP	ENST00000339777.4	37	CCDS45001.1																																																																																				0.557	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401589.1	NM_152759		T	122672370	C	T	122672370	2	4	712	1	0	0	0	0	0	0	0	1	9003	547	19	1		1	LRRC43	12	122672370	Silent	SNP	C	TCGA-KL-8343-01A-11D-2310-10	69587417	122672370	11179525	63	39865											
MYCBP2	23077	ucsc.edu;mdanderson.org	37	13	77799637	77799637	+	Silent	SNP	A	A	G			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr13:77799637A>G	ENST00000544440.2	-	19	2693	c.2676T>C	c.(2674-2676)ccT>ccC	p.P892P	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Silent_p.P892P|MYCBP2_ENST00000407578.2_Silent_p.P930P					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)		CAGAGCCTGGAGGGTATGTTG	0.443																																																0													197	166	176					13																	77799637		2203	4300	6503	SO:0001819	synonymous_variant	23077			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"MYC binding protein 2"			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.2676T>C	13.37:g.77799637A>G				Silent	SNP	ENST00000544440.2	37																																																																																					0.443	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		G	77799637	A	G	77799637	2	3	712	1	0	0	0	0	0	0	0	1	10020	291	11	3		3	MYCBP2	13	77799637	Silent	SNP	A	TCGA-KL-8343-01A-11D-2310-10		77799637	37370241	64	39866											
ADCY4	196883	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	14	24793320	24793320	+	Missense_Mutation	SNP	G	G	C			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr14:24793320G>C	ENST00000310677.4	-	17	2107	c.1994C>G	c.(1993-1995)gCc>gGc	p.A665G	ADCY4_ENST00000418030.2_Missense_Mutation_p.A665G|ADCY4_ENST00000396747.3_Missense_Mutation_p.A358G|ADCY4_ENST00000554068.2_Missense_Mutation_p.A665G	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	665					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)		GGTGCCCAAGGCTATTCTCAG	0.612																																																0													75	67	70					14																	24793320		2203	4300	6503	SO:0001583	missense	196883			AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"Adenylate cyclases"	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.1994C>G	14.37:g.24793320G>C	ENSP00000312126:p.Ala665Gly		B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Missense_Mutation	SNP	ENST00000310677.4	37	CCDS9627.1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.909293	0.72868	.	.	ENSG00000129467	ENST00000310677;ENST00000554068;ENST00000418030;ENST00000396747	T;T;T;T	0.79940	-1.13;-1.13;-1.13;-1.32	4.93	4.93	0.64822	.	0.000000	0.46145	D	0.000319	T	0.77096	0.4080	L	0.56769	1.78	0.33050	D	0.532568	B	0.33841	0.428	B	0.33521	0.165	T	0.80372	-0.1410	10	0.25751	T	0.34	.	15.6732	0.77295	0.0:0.0:1.0:0.0	.	665	Q8NFM4	ADCY4_HUMAN	G	665;665;665;358	ENSP00000312126:A665G;ENSP00000452250:A665G;ENSP00000393177:A665G;ENSP00000379971:A358G	ENSP00000312126:A665G	A	-	2	0	ADCY4	23863160	0.979000	0.34478	0.996000	0.52242	0.912000	0.54170	1.769000	0.38522	2.569000	0.86673	0.563000	0.77884	GCC		0.612	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			C	24793320	G	C	24793320	3	2	712	1	0	0	0	0	1	0	0	0	296	1203	42	4	1279	4	ADCY4	14	24793320	Missense_Mutation	SNP	G	TCGA-KL-8343-01A-11D-2310-10		24793320	82556220	65	39867											
BAG5	9529	broad.mit.edu	37	14	104026528	104026528	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr14:104026528delT	ENST00000445922.2	-	2	1220	c.974delA	c.(973-975)aacfs	p.N325fs	APOPT1_ENST00000556253.2_5'Flank|RP11-73M18.2_ENST00000472726.2_5'Flank|BAG5_ENST00000337322.4_Frame_Shift_Del_p.N366fs|APOPT1_ENST00000247618.4_5'Flank|BAG5_ENST00000299204.4_Frame_Shift_Del_p.N325fs|APOPT1_ENST00000409074.2_5'Flank|RP11-894P9.2_ENST00000556332.1_RNA	NM_004873.3	NP_004864.1	Q9UL15	BAG5_HUMAN	BCL2-associated athanogene 5	325	BAG 4. {ECO:0000255|PROSITE- ProRule:PRU00369}.				negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein refolding (GO:0061084)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron death (GO:0070997)|protein folding (GO:0006457)|regulation of inclusion body assembly (GO:0090083)	inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chaperone binding (GO:0051087)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	24		Melanoma(154;0.155)	Epithelial(46;0.144)			GATGCAGGGGTTTTTTTCAAG	0.443																																					NSCLC(171;1832 2055 18950 31566 41632)											0													61	65	63					14																	104026528		2203	4300	6503	SO:0001589	frameshift_variant	9529			AF095195	CCDS9982.1, CCDS41995.1	14q32	2008-08-01				ENSG00000166170			941	protein-coding gene	gene with protein product		603885				9873016, 15603737	Standard	NM_001015048		Approved		uc001ynh.2	Q9UL15		ENST00000445922.2:c.974delA	14.37:g.104026528delT	ENSP00000391713:p.Asn325fs		O94950|Q86W59	Frame_Shift_Del	DEL	ENST00000445922.2	37	CCDS9982.1																																																																																				0.443	BAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414990.1			-	104026528	T	-	104026528	7	5	712	1	0	1	0	1	0	0	0	0	1290	1725	60	0	373	0	BAG5	14	104026528	Frame_Shift_Del	DEL	T	TCGA-KL-8343-01A-11D-2310-10	79233208	104026528	3323012	66	39868											
INO80	54617	broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	41313154	41313154	+	Missense_Mutation	SNP	G	G	C			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr15:41313154G>C	ENST00000361937.3	-	26	3642	c.3218C>G	c.(3217-3219)gCt>gGt	p.A1073G	RP11-540O11.4_ENST00000558967.1_RNA|INO80_ENST00000401393.3_Missense_Mutation_p.A1073G			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1073	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				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						CAGACCTCCAGCTGGCTCTGG	0.527																																																0													56	55	55					15																	41313154		2203	4300	6503	SO:0001583	missense	54617			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.3218C>G	15.37:g.41313154G>C	ENSP00000355205:p.Ala1073Gly		A6H8X4|Q9NTG6	Missense_Mutation	SNP	ENST00000361937.3	37	CCDS10071.1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.941002	0.34283	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	D;D	0.91124	-2.79;-2.79	5.35	2.35	0.29111	.	0.344090	0.34223	N	0.004142	T	0.80116	0.4564	N	0.20986	0.625	0.26586	N	0.973289	B	0.11235	0.004	B	0.13407	0.009	T	0.63778	-0.6560	10	0.22109	T	0.4	.	5.7046	0.17901	0.2319:0.0:0.6331:0.135	.	1073	Q9ULG1	INO80_HUMAN	G	1073	ENSP00000355205:A1073G;ENSP00000384686:A1073G	ENSP00000355205:A1073G	A	-	2	0	INO80	39100446	1.000000	0.71417	0.488000	0.27440	0.804000	0.45430	3.923000	0.56469	0.337000	0.23665	-0.345000	0.07892	GCT		0.527	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	NM_017553		C	41313154	G	C	41313154	3	2	712	1	0	0	0	0	1	0	0	0	7748	971	34	4	1496	4	INO80	15	41313154	Missense_Mutation	SNP	G	TCGA-KL-8343-01A-11D-2310-10		41313154	61218238	67	39869											
RNF111	54778	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	15	59368246	59368246	+	Missense_Mutation	SNP	G	G	T			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr15:59368246G>T	ENST00000557998.1	+	7	2067	c.1780G>T	c.(1780-1782)Gtt>Ttt	p.V594F	RNF111_ENST00000348370.4_Missense_Mutation_p.V594F|RNF111_ENST00000559209.1_Missense_Mutation_p.V594F|RNF111_ENST00000561186.1_Missense_Mutation_p.V594F|RNF111_ENST00000434298.1_Missense_Mutation_p.V594F	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	594					gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		CTGCTGCCCTGTTTCTTCCTC	0.512																																					NSCLC(72;983 1365 10746 34387 47081)											0													95	84	88					15																	59368246		2192	4291	6483	SO:0001583	missense	54778			AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"RING-type (C3HC4) zinc fingers"	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.1780G>T	15.37:g.59368246G>T	ENSP00000452732:p.Val594Phe		C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Missense_Mutation	SNP	ENST00000557998.1	37	CCDS58366.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.059653	0.76074	.	.	ENSG00000157450	ENST00000348370;ENST00000434298	T;T	0.15372	2.43;2.43	5.51	5.51	0.81932	.	0.233772	0.42172	D	0.000741	T	0.13970	0.0338	N	0.14661	0.345	0.48087	D	0.999583	B;B;B	0.27264	0.173;0.087;0.141	B;B;B	0.31686	0.134;0.046;0.1	T	0.15578	-1.0432	10	0.25751	T	0.34	-6.3302	19.7838	0.96428	0.0:0.0:1.0:0.0	.	594;594;594	Q6ZNA4-3;Q6ZNA4;Q6ZNA4-2	.;RN111_HUMAN;.	F	594	ENSP00000288199:V594F;ENSP00000393641:V594F	ENSP00000288199:V594F	V	+	1	0	RNF111	57155538	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	9.146000	0.94640	2.755000	0.94549	0.650000	0.86243	GTT		0.512	RNF111-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000416012.1	NM_017610		T	59368246	G	T	59368246	3	4	712	1	0	0	0	0	1	0	0	0	13431	1377	48	4	1802	4	RNF111	15	59368246	Missense_Mutation	SNP	G	TCGA-KL-8343-01A-11D-2310-10	18055092	59368246	43163146	68	39870											
TMC5	79838	bcgsc.ca	37	16	19509242	19509242	+	Splice_Site	SNP	A	A	G			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr16:19509242A>G	ENST00000396229.2	+	22	3724	c.2975A>G	c.(2974-2976)gAc>gGc	p.D992G	TMC5_ENST00000564959.1_Splice_Site_p.D675G|RNU4-46P_ENST00000410818.1_RNA|TMC5_ENST00000381414.4_Splice_Site_p.D934G|TMC5_ENST00000541464.1_Splice_Site_p.D940G|TMC5_ENST00000542583.2_Splice_Site_p.D992G|TMC5_ENST00000219821.5_Splice_Site_p.D746G|TMC5_ENST00000561503.1_Splice_Site_p.D633G	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	992					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						TCAAACCTAGACTTGCGATCT	0.458																																																0													302	266	278					16																	19509242		2197	4300	6497	SO:0001630	splice_region_variant	79838			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.2975-1A>G	16.37:g.19509242A>G			Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Missense_Mutation	SNP	ENST00000396229.2	37	CCDS45431.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.27|12.27	1.888056|1.888056	0.33348|0.33348	.|.	.|.	ENSG00000103534|ENSG00000103534	ENST00000541464;ENST00000381414;ENST00000396229;ENST00000542583;ENST00000219821|ENST00000440743	T;T;T;T;T|.	0.69561|.	-0.2;-0.34;-0.31;-0.31;-0.41|.	4.44|4.44	3.35|3.35	0.38373|0.38373	.|.	911.436000|.	0.00913|.	N|.	0.002494|.	T|T	0.48003|0.48003	0.1476|0.1476	L|L	0.44542|0.44542	1.39|1.39	0.34702|0.34702	D|D	0.72684|0.72684	D;D;D;D|.	0.89917|.	1.0;0.998;1.0;1.0|.	D;D;D;D|.	0.87578|.	0.998;0.937;0.996;0.998|.	T|T	0.55573|0.55573	-0.8120|-0.8120	9|5	.|.	.|.	.|.	.|.	6.9366|6.9366	0.24470|0.24470	0.8973:0.0:0.1027:0.0|0.8973:0.0:0.1027:0.0	.|.	940;746;992;934|.	F5GYU8;Q6UXY8-3;Q6UXY8;Q6UXY8-2|.	.;.;TMC5_HUMAN;.|.	G|A	940;934;992;992;746|675	ENSP00000441227:D940G;ENSP00000370822:D934G;ENSP00000379531:D992G;ENSP00000446274:D992G;ENSP00000219821:D746G|.	.|.	D|T	+|+	2|1	0|0	TMC5|TMC5	19416743|19416743	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.032000|0.032000	0.12392|0.12392	3.612000|3.612000	0.54142|0.54142	1.022000|1.022000	0.39626|0.39626	-0.290000|-0.290000	0.09829|0.09829	GAC|ACT		0.458	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435888.1	NM_024780	Missense_Mutation	G	19509242	A	G	19509242	5	3	712	1	0	0	0	0	0	0	1	0	15993	289	10	3	3367	3	TMC5	16	19509242	Splice_Site	SNP	A	TCGA-KL-8343-01A-11D-2310-10		19509242	70845511	69	39871											
RLTPR	146206	broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	67679167	67679167	+	Missense_Mutation	SNP	C	C	G			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr16:67679167C>G	ENST00000334583.6	+	1	346	c.18C>G	c.(16-18)gaC>gaG	p.D6E	RLTPR_ENST00000545661.1_Missense_Mutation_p.D6E	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	6					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)		AGACCCCCGACGGCATCTCCT	0.701																																																0													14	17	16					16																	67679167		1879	4091	5970	SO:0001583	missense	146206			AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein", "leucine rich repeat containing 16C"	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.18C>G	16.37:g.67679167C>G	ENSP00000334958:p.Asp6Glu		B8X2Z3	Missense_Mutation	SNP	ENST00000334583.6	37	CCDS45513.1	.	.	.	.	.	.	.	.	.	.	c	10.99	1.506105	0.26949	.	.	ENSG00000159753	ENST00000334583;ENST00000545661	T;T	0.13538	2.6;2.58	4.19	0.764	0.18465	.	0.609572	0.14846	N	0.294975	T	0.04679	0.0127	N	0.08118	0	0.21950	N	0.999451	B;B	0.30763	0.294;0.149	B;B	0.24155	0.051;0.016	T	0.31916	-0.9926	10	0.35671	T	0.21	-11.9051	1.3041	0.02085	0.1712:0.4571:0.1671:0.2046	.	6;6	B8X2Z3;Q6F5E8	.;LR16C_HUMAN	E	6	ENSP00000334958:D6E;ENSP00000441481:D6E	ENSP00000334958:D6E	D	+	3	2	RLTPR	66236668	0.156000	0.22821	0.998000	0.56505	0.966000	0.64601	-0.327000	0.07955	0.467000	0.27218	0.651000	0.88453	GAC		0.701	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1	NM_001013838		G	67679167	C	G	67679167	3	3	712	1	0	0	0	0	1	0	0	0	13400	535	19	4	20	4	RLTPR	16	67679167	Missense_Mutation	SNP	C	TCGA-KL-8343-01A-11D-2310-10	48169925	67679167	22675586	70	39872											
ALOX12B	242	broad.mit.edu	37	17	7980375	7980375	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr17:7980375T>C	ENST00000319144.4	-	9	1468	c.1208A>G	c.(1207-1209)cAc>cGc	p.H403R	ALOX12B_ENST00000577351.1_5'UTR|AC129492.6_ENST00000399413.3_5'Flank	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	403	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|protein lipidation (GO:0006497)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	arachidonate 12-lipoxygenase activity (GO:0004052)|iron ion binding (GO:0005506)|linoleate 9S-lipoxygenase activity (GO:1990136)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						AGCAATGAGGTGTGTCTCCAG	0.622										Multiple Myeloma(8;0.094)																																						0													57	48	51					17																	7980375		2203	4300	6503	SO:0001583	missense	242			AF038461	CCDS11129.1	17p13.1	2008-03-18			ENSG00000179477	ENSG00000179477	1.13.11.-	"Arachidonate lipoxygenases"	430	protein-coding gene	gene with protein product		603741				9618483	Standard	NM_001139		Approved	12R-LOX	uc002gjy.1	O75342	OTTHUMG00000108180	ENST00000319144.4:c.1208A>G	17.37:g.7980375T>C	ENSP00000315167:p.His403Arg			Missense_Mutation	SNP	ENST00000319144.4	37	CCDS11129.1	.	.	.	.	.	.	.	.	.	.	T	16.19	3.052970	0.55218	.	.	ENSG00000179477	ENST00000319144	D	0.96136	-3.92	4.82	4.82	0.62117	Lipoxygenase, C-terminal (4);	0.000000	0.85682	D	0.000000	D	0.98002	0.9342	M	0.91459	3.21	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98994	1.0809	10	0.87932	D	0	-37.0536	13.6567	0.62341	0.0:0.0:0.0:1.0	.	403	O75342	LX12B_HUMAN	R	403	ENSP00000315167:H403R	ENSP00000315167:H403R	H	-	2	0	ALOX12B	7921100	1.000000	0.71417	1.000000	0.80357	0.144000	0.21451	7.886000	0.87288	1.937000	0.56155	0.260000	0.18958	CAC		0.622	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226984.3			C	7980375	T	C	7980375	3	2	712	1	0	0	0	0	1	0	0	0	537	1696	59	3	925	3	ALOX12B	17	7980375	Missense_Mutation	SNP	T	TCGA-KL-8343-01A-11D-2310-10		7980375	73214835	71	39873											
SPDYE4	388333	ucsc.edu	37	17	8661681	8661681	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr17:8661681C>T	ENST00000328794.6	-	1	196	c.20G>A	c.(19-21)cGc>cAc	p.R7H		NM_001128076.1	NP_001121548.1	A6NLX3	SPDE4_HUMAN	speedy/RINGO cell cycle regulator family member E4	7										breast(1)|endometrium(2)|kidney(1)	4						AAACGGGGGGCGCGCTTGACC	0.562																																																0													22	25	24					17																	8661681		692	1591	2283	SO:0001583	missense	388333			BC146949	CCDS45609.1	17p13.1	2013-05-08	2013-05-08			ENSG00000183318		"Speedy homologs"	35463	protein-coding gene	gene with protein product			"speedy homolog E4 (Xenopus laevis)"				Standard	NM_001128076		Approved		uc010cnz.1	A6NLX3		ENST00000328794.6:c.20G>A	17.37:g.8661681C>T	ENSP00000329522:p.Arg7His		B2RUZ6	Missense_Mutation	SNP	ENST00000328794.6	37	CCDS45609.1	.	.	.	.	.	.	.	.	.	.	C	0.952	-0.706226	0.03255	.	.	ENSG00000183318	ENST00000328794	.	.	.	2.38	-4.77	0.03219	.	7.820830	0.00424	N	0.000061	T	0.07007	0.0178	N	0.00347	-1.61	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23297	-1.0192	9	0.21540	T	0.41	.	1.1614	0.01806	0.2396:0.3748:0.1786:0.207	.	7	A6NLX3	SPDE4_HUMAN	H	7	.	ENSP00000329522:R7H	R	-	2	0	SPDYE4	8602406	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.285000	0.02791	-3.424000	0.00166	-1.501000	0.00957	CGC		0.562	SPDYE4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442494.1	NM_001128076		T	8661681	C	T	8661681	3	4	712	1	0	0	0	0	1	0	0	0	15036	768	27	1	717	1	SPDYE4	17	8661681	Missense_Mutation	SNP	C	TCGA-KL-8343-01A-11D-2310-10	681306	8661681	72533529	72	39874											
C17orf53	78995	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	17	42225428	42225428	+	Missense_Mutation	SNP	C	C	A	rs563980398		TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr17:42225428C>A	ENST00000319977.4	+	3	494	c.257C>A	c.(256-258)aCg>aAg	p.T86K	C17orf53_ENST00000245382.6_Missense_Mutation_p.T86K|C17orf53_ENST00000585683.1_Missense_Mutation_p.T86K	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																																																0													84	73	76					17																	42225428		2203	4300	6503	SO:0001583	missense	78995			AK021656	CCDS11477.1, CCDS59293.1	17q21.31	2012-10-11			ENSG00000125319	ENSG00000125319			28460	protein-coding gene	gene with protein product							Standard	NM_001171251		Approved	MGC3130	uc002ifi.2	Q8N3J3	OTTHUMG00000181808	ENST00000319977.4:c.257C>A	17.37:g.42225428C>A	ENSP00000313500:p.Thr86Lys		A8K7A9|Q9BWM9|Q9HAI1	Missense_Mutation	SNP	ENST00000319977.4	37	CCDS11477.1	.	.	.	.	.	.	.	.	.	.	C	1.476	-0.558590	0.03967	.	.	ENSG00000125319	ENST00000319977;ENST00000245382;ENST00000253405	T;T	0.43294	0.95;0.95	4.68	1.11	0.20524	.	1.059490	0.07253	N	0.866199	T	0.22126	0.0533	N	0.08118	0	0.09310	N	1	B;B;B	0.23937	0.006;0.094;0.006	B;B;B	0.22601	0.008;0.04;0.008	T	0.23833	-1.0177	10	0.42905	T	0.14	-0.1606	4.7069	0.12855	0.0:0.1771:0.1617:0.6612	.	86;86;86	A8K7A9;Q8N3J3-3;Q8N3J3	.;.;CQ053_HUMAN	K	86	ENSP00000313500:T86K;ENSP00000245382:T86K	ENSP00000245382:T86K	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		A	42225428	C	A	42225428	3	1	712	1	0	0	0	0	1	0	0	0	1864	536	19	4	267	4	C17orf53	17	42225428	Missense_Mutation	SNP	C	TCGA-KL-8343-01A-11D-2310-10	33563747	42225428	38969782	73	39875											
PLEKHM1	9842	mdanderson.org	37	17	43531297	43531297	+	Missense_Mutation	SNP	G	G	A	rs2684501		TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr17:43531297G>A	ENST00000430334.3	-	7	2054	c.1921C>T	c.(1921-1923)Cca>Tca	p.P641S	AC091132.1_ENST00000433601.1_RNA|PLEKHM1_ENST00000421073.2_Missense_Mutation_p.P552S	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	641					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)					GGCTGGTCTGGGTACTGCACG	0.682																																																0													34	40	38					17																	43531297		2202	4299	6501	SO:0001583	missense	9842			X85792	CCDS32671.1	17q21.31	2013-01-11				ENSG00000225190		"Pleckstrin homology (PH) domain containing"	29017	protein-coding gene	gene with protein product		611466				9205841, 12820725	Standard	NM_014798		Approved	KIAA0356	uc002ija.3	Q9Y4G2		ENST00000430334.3:c.1921C>T	17.37:g.43531297G>A	ENSP00000389913:p.Pro641Ser		Q6P2R5|Q8TEL9|Q9NPP5|Q9NYA0	Missense_Mutation	SNP	ENST00000430334.3	37	CCDS32671.1	.	.	.	.	.	.	.	.	.	.	G	7.679	0.688696	0.14973	.	.	ENSG00000225190	ENST00000430334;ENST00000446609;ENST00000421073	T;T	0.64991	-0.13;-0.13	4.8	3.84	0.44239	.	0.460522	0.24649	N	0.036725	T	0.50735	0.1633	L	0.46157	1.445	0.27650	N	0.947413	P;P;P	0.48503	0.831;0.911;0.741	B;B;B	0.39840	0.209;0.311;0.104	T	0.44081	-0.9351	10	0.21014	T	0.42	.	11.4789	0.50314	0.0876:0.0:0.9124:0.0	rs2684501	552;590;641	F8W648;B4DRX1;Q9Y4G2	.;.;PKHM1_HUMAN	S	641;590;552	ENSP00000389913:P641S;ENSP00000414352:P552S	ENSP00000414352:P552S	P	-	1	0	PLEKHM1	40887080	0.611000	0.26992	0.608000	0.28969	0.466000	0.32739	1.220000	0.32491	1.262000	0.44165	0.586000	0.80456	CCA		0.682	PLEKHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444659.1	NM_014798		A	43531297	G	A	43531297	3	1	712	1	0	0	0	0	1	0	0	0	12082	1232	43	2	1273	2	PLEKHM1	17	43531297	Missense_Mutation	SNP	G	TCGA-KL-8343-01A-11D-2310-10	1305869	43531297	37663913	74	39876											
FOXJ1	2302	mdanderson.org	37	17	74133974	74133974	+	Silent	SNP	C	C	T	rs894542	byFrequency	TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr17:74133974C>T	ENST00000322957.6	-	3	1080	c.726G>A	c.(724-726)acG>acA	p.T242T	RNF157-AS1_ENST00000585542.1_RNA|RNF157-AS1_ENST00000590137.1_RNA	NM_001454.3	NP_001445.2	Q92949	FOXJ1_HUMAN	forkhead box J1	242					actin cytoskeleton organization (GO:0030036)|activation of Rho GTPase activity (GO:0032862)|brain development (GO:0007420)|central tolerance induction (GO:0002508)|cilium assembly (GO:0042384)|epithelium development (GO:0060429)|establishment of apical/basal cell polarity (GO:0035089)|glomerular parietal epithelial cell development (GO:0072016)|humoral immune response (GO:0006959)|left/right pattern formation (GO:0060972)|leukocyte migration (GO:0050900)|lung epithelium development (GO:0060428)|metanephric part of ureteric bud development (GO:0035502)|negative regulation of B cell activation (GO:0050869)|negative regulation of germinal center formation (GO:0002635)|negative regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002924)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pattern specification process (GO:0007389)|positive regulation of central B cell tolerance induction (GO:0002897)|positive regulation of lung ciliated cell differentiation (GO:1901248)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(166;0.187)			CGGTATTCACCGTCAGCGGCC	0.716													C|||	385	0.076877	0.0431	0.134	5008	,	,		12954	0.0347		0.1103	False		,,,				2504	0.091															0								C		156,3988		3,150,1919	4	6	5		726	1.5	1	17	dbSNP_86	5	700,7392		28,644,3374	no	coding-synonymous	FOXJ1	NM_001454.3		31,794,5293	TT,TC,CC		8.6505,3.7645,6.9958		242/422	74133974	856,11380	2072	4046	6118	SO:0001819	synonymous_variant	2302			X99349	CCDS32739.1	17q25.1	2008-05-14				ENSG00000129654		"Forkhead boxes"	3816	protein-coding gene	gene with protein product		602291		FKHL13		9073514, 16518568	Standard	NM_001454		Approved	HFH-4, HFH4	uc002jqx.3	Q92949		ENST00000322957.6:c.726G>A	17.37:g.74133974C>T			O00630	Silent	SNP	ENST00000322957.6	37	CCDS32739.1																																																																																				0.716	FOXJ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449856.1	NM_001454		T	74133974	C	T	74133974	2	4	712	1	0	0	0	0	0	0	0	1	6013	639	23	1		1	FOXJ1	17	74133974	Silent	SNP	C	TCGA-KL-8343-01A-11D-2310-10	30602677	74133974	7061236	75	39877											
LAMA1	284217	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	18	6978199	6978199	+	Missense_Mutation	SNP	C	C	A			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr18:6978199C>A	ENST00000389658.3	-	43	6279	c.6186G>T	c.(6184-6186)atG>atT	p.M2062I		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2062	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)				ACATACTGGCCATGGTGGAGT	0.562																																																0													212	189	197					18																	6978199		2203	4300	6503	SO:0001583	missense	284217			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.6186G>T	18.37:g.6978199C>A	ENSP00000374309:p.Met2062Ile			Missense_Mutation	SNP	ENST00000389658.3	37	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	C	9.178	1.022806	0.19433	.	.	ENSG00000101680	ENST00000389658	T	0.44083	0.93	5.65	2.88	0.33553	Laminin II (1);	0.574082	0.19018	N	0.124884	T	0.34308	0.0893	L	0.51422	1.61	0.26194	N	0.979549	B	0.15141	0.012	B	0.15870	0.014	T	0.24297	-1.0164	10	0.44086	T	0.13	.	7.9278	0.29885	0.0:0.6485:0.0:0.3515	.	2062	P25391	LAMA1_HUMAN	I	2062	ENSP00000374309:M2062I	ENSP00000374309:M2062I	M	-	3	0	LAMA1	6968199	0.999000	0.42202	0.380000	0.26093	0.073000	0.16967	1.315000	0.33608	0.860000	0.35481	0.655000	0.94253	ATG		0.562	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		A	6978199	C	A	6978199	3	1	712	1	0	0	0	0	1	0	0	0	8607	594	21	4	3125	4	LAMA1	18	6978199	Missense_Mutation	SNP	C	TCGA-KL-8343-01A-11D-2310-10		6978199	71099049	76	39878											
SBNO2	22904	ucsc.edu	37	19	1132115	1132115	+	Intron	SNP	A	A	G			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr19:1132115A>G	ENST00000361757.3	-	5	517				SBNO2_ENST00000438103.2_Missense_Mutation_p.W28R|SBNO2_ENST00000587024.1_Intron	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)						bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AACTGCAGCCACAGCTGCAGC	0.716																																																0													7	8	8					19																	1132115		1763	4004	5767	SO:0001627	intron_variant	22904			AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"KIAA0963"	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000361757.3:c.280-4351T>C	19.37:g.1132115A>G			A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Missense_Mutation	SNP	ENST00000361757.3	37	CCDS45894.1	.	.	.	.	.	.	.	.	.	.	A	17.97	3.518610	0.64634	.	.	ENSG00000064932	ENST00000438103;ENST00000250872	.	.	.	4.09	2.98	0.34508	.	.	.	.	.	T	0.32010	0.0815	L	0.44542	1.39	0.22127	N	0.999344	B;B	0.32573	0.107;0.376	B;B	0.28709	0.043;0.093	T	0.27536	-1.0071	8	0.87932	D	0	-23.9825	7.103	0.25348	0.7995:0.0:0.0:0.2005	.	28;28	B4DL53;Q9Y2G9-3	.;.	R	28;7	.	ENSP00000250872:W7R	W	-	1	0	SBNO2	1083115	1.000000	0.71417	0.957000	0.39632	0.843000	0.47879	3.547000	0.53663	1.510000	0.48803	0.459000	0.35465	TGG		0.716	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	NM_014963		G	1132115	A	G	1132115	1	3	712	0	1	0	0	0	0	0	0	0	13869	159	6	3		3	SBNO2	19	1132115	Intron	SNP	A	TCGA-KL-8343-01A-11D-2310-10		1132115	57996868	77	39879											
SHD	56961	broad.mit.edu	37	19	4280193	4280193	+	Missense_Mutation	SNP	C	C	A			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr19:4280193C>A	ENST00000543264.2	+	1	1596	c.133C>A	c.(133-135)Ccc>Acc	p.P45T	SHD_ENST00000599689.1_Missense_Mutation_p.P45T	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming protein D	45										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)		CTTCGAGGACCCCTATGAGGA	0.687																																																0													24	29	27					19																	4280193		2203	4299	6502	SO:0001583	missense	56961			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.133C>A	19.37:g.4280193C>A	ENSP00000446058:p.Pro45Thr		Q96NC2	Missense_Mutation	SNP	ENST00000543264.2	37	CCDS12125.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.478308	0.84747	.	.	ENSG00000105251	ENST00000543264	T	0.64260	-0.09	4.6	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.78233	0.4251	M	0.75615	2.305	0.49483	D	0.999799	D	0.89917	1.0	D	0.79108	0.992	T	0.81549	-0.0882	10	0.87932	D	0	-0.5326	15.2492	0.73529	0.0:1.0:0.0:0.0	.	45	Q96IW2	SHD_HUMAN	T	45	ENSP00000446058:P45T	ENSP00000446058:P45T	P	+	1	0	SHD	4231193	1.000000	0.71417	1.000000	0.80357	0.504000	0.33889	6.467000	0.73547	2.267000	0.75376	0.484000	0.47621	CCC		0.687	SHD-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458082.1	NM_020209		A	4280193	C	A	4280193	3	1	712	1	0	0	0	0	1	0	0	0	14281	623	22	4	135	4	SHD	19	4280193	Missense_Mutation	SNP	C	TCGA-KL-8343-01A-11D-2310-10	3148078	4280193	54848790	78	39880											
ANKLE1	126549	mdanderson.org	37	19	17393530	17393530	+	Missense_Mutation	SNP	T	T	A	rs8108174	byFrequency	TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr19:17393530T>A	ENST00000394458.3	+	3	557	c.281T>A	c.(280-282)cTg>cAg	p.L94Q	ANKLE1_ENST00000404085.1_Missense_Mutation_p.L116Q|ANKLE1_ENST00000594072.1_Missense_Mutation_p.L83Q|CTD-2278I10.6_ENST00000596542.1_3'UTR|ANKLE1_ENST00000433424.2_Missense_Mutation_p.L148Q|ANKLE1_ENST00000598347.1_Missense_Mutation_p.L94Q	NM_152363.4	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	94			L -> Q (in dbSNP:rs8108174). {ECO:0000269|Ref.1}.							large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						GGCCTGGAGCTGCTGCTGAGC	0.706											OREG0025341	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T|||	2307	0.460663	0.5053	0.3905	5008	,	,		14289	0.3115		0.5726	False		,,,				2504	0.4888															0								T	GLN/LEU	2060,1610		662,736,437	2	3	3		281	4.3	1	19	dbSNP_116	3	4143,3109		1303,1537,786	no	missense	ANKLE1	NM_152363.4	113	1965,2273,1223	AA,AT,TT		42.8709,43.8692,43.2064	probably-damaging	94/616	17393530	6203,4719	1835	3626	5461	SO:0001583	missense	126549			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.281T>A	19.37:g.17393530T>A	ENSP00000377971:p.Leu94Gln	717	A8VU82|Q8N8J8	Missense_Mutation	SNP	ENST00000394458.3	37	CCDS12354.2	1011	0.46291208791208793	245	0.49796747967479676	160	0.4419889502762431	164	0.2867132867132867	442	0.58311345646438	T	17.43	3.387803	0.61956	0.561308	0.571291	ENSG00000160117	ENST00000404261;ENST00000433424;ENST00000404085;ENST00000394458;ENST00000438921	T;T;T	0.69926	-0.44;-0.44;-0.44	4.27	4.27	0.50696	Ankyrin repeat-containing domain (4);	0.097299	0.42964	D	0.000624	T	0.00012	0.0000	M	0.64080	1.96	0.23515	P	0.99751696	P;D;D	0.89917	0.793;1.0;1.0	B;D;D	0.91635	0.426;0.999;0.999	T	0.51702	-0.8672	9	0.56958	D	0.05	-2.4128	11.4078	0.49908	0.0:0.0:0.0:1.0	rs8108174	94;80;94	E7ETZ9;Q8NAG6-1;Q8NAG6	.;.;ANKL1_HUMAN	Q	94;148;116;83;94	ENSP00000384753:L94Q;ENSP00000394460:L148Q;ENSP00000384008:L116Q	ENSP00000377971:L83Q	L	+	2	0	ANKLE1	17254530	1.000000	0.71417	0.997000	0.53966	0.070000	0.16714	4.664000	0.61540	1.800000	0.52685	0.459000	0.35465	CTG		0.706	ANKLE1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325392.2	NM_152363		A	17393530	T	A	17393530	3	1	712	1	0	0	0	0	1	0	0	0	632	1580	55	5	291	5	ANKLE1	19	17393530	Missense_Mutation	SNP	T	TCGA-KL-8343-01A-11D-2310-10	13113337	17393530	41735453	79	39881											
CAPN12	147968	broad.mit.edu	37	19	39226063	39226063	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr19:39226063A>G	ENST00000328867.4	-	14	1941	c.1633T>C	c.(1633-1635)Tac>Cac	p.Y545H	CTD-2540F13.2_ENST00000602255.1_RNA|CAPN12_ENST00000601953.1_Missense_Mutation_p.Y396H	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	545	Domain IV.				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)			AGGGGCAGGTAGGGGCCCTGC	0.677																																																0													41	40	40					19																	39226063		2185	4297	6482	SO:0001583	missense	147968			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.1633T>C	19.37:g.39226063A>G	ENSP00000331636:p.Tyr545His			Missense_Mutation	SNP	ENST00000328867.4	37	CCDS12519.1	.	.	.	.	.	.	.	.	.	.	A	10.25	1.298308	0.23650	.	.	ENSG00000182472	ENST00000328867	D	0.86769	-2.17	4.0	2.97	0.34412	.	3.783630	0.00993	N	0.003551	D	0.83110	0.5183	L	0.40543	1.245	0.23984	N	0.99626	B	0.02656	0.0	B	0.01281	0.0	T	0.64253	-0.6451	10	0.41790	T	0.15	.	6.4766	0.22039	0.784:0.0:0.0:0.216	.	545	Q6ZSI9	CAN12_HUMAN	H	545	ENSP00000331636:Y545H	ENSP00000331636:Y545H	Y	-	1	0	CAPN12	43917903	0.160000	0.22878	0.595000	0.28798	0.013000	0.08279	0.553000	0.23391	0.562000	0.29204	0.397000	0.26171	TAC		0.677	CAPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462151.1			G	39226063	A	G	39226063	3	3	712	1	0	0	0	0	1	0	0	0	2627	420	15	3	558	3	CAPN12	19	39226063	Missense_Mutation	SNP	A	TCGA-KL-8343-01A-11D-2310-10	21832533	39226063	19902920	80	39882											
ZNF133	7692	bcgsc.ca	37	20	18295937	18295951	+	In_Frame_Del	DEL	GGGAGAAGGTGCCAT	GGGAGAAGGTGCCAT	-	rs139158783		TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	GGGAGAAGGTGCCAT	GGGAGAAGGTGCCAT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr20:18295937_18295951delGGGAGAAGGTGCCAT	ENST00000316358.4	+	4	539_553	c.442_456delGGGAGAAGGTGCCAT	c.(442-456)gggagaaggtgccatdel	p.GRRCH148del	ZNF133_ENST00000402618.2_In_Frame_Del_p.GRRCH85del|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000401790.1_In_Frame_Del_p.GRRCH148del|ZNF133_ENST00000538547.1_In_Frame_Del_p.GRRCH53del|ZNF133_ENST00000535822.1_In_Frame_Del_p.GRRCH53del|ZNF133_ENST00000377671.3_In_Frame_Del_p.GRRCH147del|ZNF133_ENST00000396026.3_In_Frame_Del_p.GRRCH151del|RP4-568F9.3_ENST00000436848.1_RNA	NM_001282998.1|NM_001282999.1|NM_001283000.1|NM_001283001.1|NM_001283008.1	NP_001269927.1|NP_001269928.1|NP_001269929.1|NP_001269930.1|NP_001269937.1	P52736	ZN133_HUMAN	zinc finger protein 133	148					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						AGGTCCTGAGGGAGAAGGTGCCATGCCTTTGTTTG	0.6																																																0																																										SO:0001651	inframe_deletion	7692			AK123005	CCDS13134.1, CCDS63234.1, CCDS63235.1, CCDS74703.1, CCDS74704.1	20p11.23	2013-01-08	2006-06-13		ENSG00000125846	ENSG00000125846		"Zinc fingers, C2H2-type", "-"	12917	protein-coding gene	gene with protein product		604075	"zinc finger protein 150 (pHZ-66)", "zinc finger protein 133 (clone pHZ-13)"	ZNF150		7557990, 7649249	Standard	XM_005260819		Approved	pHZ-13, pHZ-66	uc010gcs.3	P52736	OTTHUMG00000031965	ENST00000316358.4:c.442_456delGGGAGAAGGTGCCAT	20.37:g.18295937_18295951delGGGAGAAGGTGCCAT	ENSP00000346090:p.Gly148_His152del		A8K5S4|B4DHU7|B4DIB8|B7ZAS1|F5H289|J3KQ11|J3KQJ0|Q53XU1|Q5JXV8|Q9BUV2|Q9H443	In_Frame_Del	DEL	ENST00000316358.4	37																																																																																					0.6	ZNF133-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000127616.1	NM_003434		-	18295951	GGGAGAAGGTGCCAT	-	18295937	7	5	712	1	0	1	0	1	0	0	0	0	17728	1233	43	0	449	0	ZNF133	20	18295937	In_Frame_Del	DEL	GGGAGAAGGTGCCAT	TCGA-KL-8343-01A-11D-2310-10		18295937	44729583	81	39883											
SEZ6L	23544	broad.mit.edu;mdanderson.org	37	22	26736527	26736527	+	Missense_Mutation	SNP	C	C	A			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr22:26736527C>A	ENST00000248933.6	+	10	2236	c.2141C>A	c.(2140-2142)aCc>aAc	p.T714N	SEZ6L_ENST00000343706.4_Missense_Mutation_p.T714N|SEZ6L_ENST00000360929.3_Missense_Mutation_p.T714N|SEZ6L_ENST00000402979.1_Missense_Mutation_p.T487N|SEZ6L_ENST00000529632.2_Missense_Mutation_p.T714N|SEZ6L_ENST00000403121.1_Missense_Mutation_p.T487N|SEZ6L_ENST00000404234.3_Missense_Mutation_p.T714N			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	714	CUB 3. {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)				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						CCAGACTTAACCATCCAGTTC	0.507																																																0													97	85	89					22																	26736527		2203	4300	6503	SO:0001583	missense	23544			AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"seizure related gene 6 (mouse)-like"				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.2141C>A	22.37:g.26736527C>A	ENSP00000248933:p.Thr714Asn		A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	ENST00000248933.6	37	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.518095	0.64634	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706;ENST00000403121;ENST00000402979	T;T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47;1.47	5.14	5.14	0.70334	CUB (5);	0.112900	0.39083	N	0.001478	T	0.47857	0.1468	M	0.91717	3.235	0.80722	D	1	B;B;B;B;B;B;B	0.29188	0.033;0.236;0.033;0.198;0.178;0.236;0.236	B;B;B;B;B;B;B	0.31686	0.03;0.133;0.033;0.081;0.134;0.133;0.133	T	0.56366	-0.7991	10	0.56958	D	0.05	.	17.7636	0.88470	0.0:1.0:0.0:0.0	.	714;714;487;714;714;714;714	B7ZLJ8;B7ZLJ6;B0QYH4;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;.;SE6L1_HUMAN	N	714;714;714;714;714;487;487	ENSP00000384772:T714N;ENSP00000437037:T714N;ENSP00000354185:T714N;ENSP00000248933:T714N;ENSP00000342661:T714N;ENSP00000384838:T487N;ENSP00000384733:T487N	ENSP00000248933:T714N	T	+	2	0	SEZ6L	25066527	1.000000	0.71417	0.998000	0.56505	0.922000	0.55478	7.149000	0.77396	2.668000	0.90789	0.462000	0.41574	ACC		0.507	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			A	26736527	C	A	26736527	3	1	712	1	0	0	0	0	1	0	0	0	14149	507	18	4	2179	4	SEZ6L	22	26736527	Missense_Mutation	SNP	C	TCGA-KL-8343-01A-11D-2310-10		26736527	24568039	82	39884											
MAGEB2	4113	broad.mit.edu;mdanderson.org;bcgsc.ca	37	X	30237265	30237265	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chrX:30237265G>A	ENST00000378988.4	+	2	669	c.568G>A	c.(568-570)Gaa>Aaa	p.E190K		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	190	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						CACTGATGAGGAATCCCTGCT	0.502																																																0													61	47	52					X																	30237265		2202	4300	6502	SO:0001583	missense	4113			AF015766	CCDS14219.1	Xp21.3	2009-03-17			ENSG00000099399	ENSG00000099399			6809	protein-coding gene	gene with protein product	"DSS/AHC critical interval MAGE superfamily 6", "melanoma-associated antigen B2", "cancer/testis antigen family 3, member 2"	300098				9441743	Standard	NM_002364		Approved	DAM6, MAGE-XP-2, MGC26438, CT3.2	uc004dbz.3	O15479	OTTHUMG00000021319	ENST00000378988.4:c.568G>A	X.37:g.30237265G>A	ENSP00000368273:p.Glu190Lys		O75860	Missense_Mutation	SNP	ENST00000378988.4	37	CCDS14219.1	.	.	.	.	.	.	.	.	.	.	G	10.58	1.391388	0.25118	.	.	ENSG00000099399	ENST00000378988	T	0.05025	3.51	3.13	2.26	0.28386	.	1.425730	0.05041	N	0.476377	T	0.12135	0.0295	M	0.82193	2.58	0.09310	N	1	B	0.33637	0.42	B	0.32022	0.139	T	0.34601	-0.9822	10	0.66056	D	0.02	.	5.6343	0.17528	0.156:0.0:0.844:0.0	.	190	O15479	MAGB2_HUMAN	K	190	ENSP00000368273:E190K	ENSP00000368273:E190K	E	+	1	0	MAGEB2	30147186	0.011000	0.17503	0.001000	0.08648	0.001000	0.01503	1.681000	0.37618	0.723000	0.32274	0.436000	0.28706	GAA		0.502	MAGEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056157.1	NM_002364		A	30237265	G	A	30237265	3	1	712	1	0	0	0	0	1	0	0	0	9178	1175	41	2	570	2	MAGEB2	23	30237265	Missense_Mutation	SNP	G	TCGA-KL-8343-01A-11D-2310-10		30237265	125033295	83	39885											
DMD	1756	broad.mit.edu;hgsc.bcm.edu	37	X	31198540	31198550	+	Frame_Shift_Del	DEL	GACCAGAAAAA	GACCAGAAAAA	-	rs398123827		TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	GACCAGAAAAA	GACCAGAAAAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chrX:31198540_31198550delGACCAGAAAAA	ENST00000357033.4	-	69	10229_10239	c.10023_10033delTTTTTCTGGTC	c.(10021-10035)tttttttctggtcgafs	p.FFSGR3341fs	DMD_ENST00000343523.2_Frame_Shift_Del_p.FFSGR881fs|DMD_ENST00000541735.1_Frame_Shift_Del_p.FFSGR881fs|DMD_ENST00000474231.1_Frame_Shift_Del_p.FFSGR881fs|DMD_ENST00000378707.3_Frame_Shift_Del_p.FFSGR881fs|DMD_ENST00000378680.2_Frame_Shift_Del_p.FFSGR273fs|DMD_ENST00000359836.1_Frame_Shift_Del_p.FFSGR881fs|DMD_ENST00000378723.3_Frame_Shift_Del_p.FFSGR273fs|DMD_ENST00000361471.4_Frame_Shift_Del_p.FFSGR273fs|DMD_ENST00000378702.4_Frame_Shift_Del_p.FFSGR273fs|DMD_ENST00000378677.2_Frame_Shift_Del_p.FFSGR3337fs	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	3341	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTTGCAACTCGACCAGAAAAAAAGCAGCTTT	0.412																																																0			GRCh37	CI040202|CM001666	DMD	I|M																																				SO:0001589	frameshift_variant	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.10023_10033delTTTTTCTGGTC	X.37:g.31198540_31198550delGACCAGAAAAA	ENSP00000354923:p.Phe3341fs		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Frame_Shift_Del	DEL	ENST00000357033.4	37	CCDS14233.1																																																																																				0.412	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		-	31198550	GACCAGAAAAA	-	31198540	7	5	712	1	0	1	0	1	0	0	0	0	4582	1066	37	0	1158	0	DMD	23	31198540	Frame_Shift_Del	DEL	GACCAGAAAAA	TCGA-KL-8343-01A-11D-2310-10	961275	31198540	124072020	84	39886	338	2									
DMD	1756	bcgsc.ca	37	X	31198541	31198551	+	Frame_Shift_Del	DEL	GACCAGAAAAA	GACCAGAAAAA	-			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	GACCAGAAAAA	GACCAGAAAAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chrX:31198541_31198551delGACCAGAAAAA	ENST00000357033.4	-	69	10228_10238	c.10022_10032delTTTTTCTGGTC	c.(10021-10032)ttttttctggtcfs	p.FFLV3341fs	DMD_ENST00000343523.2_Frame_Shift_Del_p.FFLV881fs|DMD_ENST00000541735.1_Frame_Shift_Del_p.FFLV881fs|DMD_ENST00000474231.1_Frame_Shift_Del_p.FFLV881fs|DMD_ENST00000378707.3_Frame_Shift_Del_p.FFLV881fs|DMD_ENST00000378680.2_Frame_Shift_Del_p.FFLV273fs|DMD_ENST00000359836.1_Frame_Shift_Del_p.FFLV881fs|DMD_ENST00000378723.3_Frame_Shift_Del_p.FFLV273fs|DMD_ENST00000361471.4_Frame_Shift_Del_p.FFLV273fs|DMD_ENST00000378702.4_Frame_Shift_Del_p.FFLV273fs|DMD_ENST00000378677.2_Frame_Shift_Del_p.FFLV3337fs	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	3341	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTGCAACTCGACCAGAAAAAAAGCAGCTTTG	0.412																																																0			GRCh37	CI040202	DMD	I																																				SO:0001589	frameshift_variant	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.10022_10032delTTTTTCTGGTC	X.37:g.31198541_31198551delGACCAGAAAAA	ENSP00000354923:p.Phe3341fs		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Frame_Shift_Del	DEL	ENST00000357033.4	37	CCDS14233.1																																																																																				0.412	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		-	31198551	GACCAGAAAAA	-	31198541	7	5	712	1	0	1	0	1	0	0	0	0	4582	262	10	0	1159	0	DMD	23	31198541	Frame_Shift_Del	DEL	GACCAGAAAAA	TCGA-KL-8343-01A-11D-2310-10	1	31198541	124072019	85	39887	338	2									
DMD	1756	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	X	32382805	32382805	+	Missense_Mutation	SNP	G	G	C	rs146420425		TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chrX:32382805G>C	ENST00000357033.4	-	36	5254	c.5048C>G	c.(5047-5049)aCt>aGt	p.T1683S	DMD_ENST00000378677.2_Missense_Mutation_p.T1679S	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	1683	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTGGTCAAAAGTTTCCATGTG	0.363																																																0								G	SER/THR,SER/THR,SER/THR,SER/THR,SER/THR,SER/THR,SER/THR	3,3830		0,3,1628,571	202	155	171		5024,5048,4679,5036,4679,1025,1016	2.5	1	X	dbSNP_134	171	0,6728		0,0,2428,1872	no	missense,missense,missense,missense,missense,missense,missense	DMD	NM_000109.3,NM_004006.2,NM_004007.2,NM_004009.3,NM_004010.3,NM_004011.3,NM_004012.3	58,58,58,58,58,58,58	0,3,4056,2443	CC,CG,GG,G		0.0,0.0783,0.0284	benign,benign,benign,benign,benign,benign,benign	1675/3678,1683/3686,1560/3563,1679/3682,1560/3563,342/2345,339/2342	32382805	3,10558	2202	4300	6502	SO:0001583	missense	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.5048C>G	X.37:g.32382805G>C	ENSP00000354923:p.Thr1683Ser		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	G	10.36	1.328845	0.24167	7.83E-4	0.0	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000420596;ENST00000448370	T;T	0.49432	0.78;0.78	5.38	2.49	0.30216	.	0.457777	0.15530	N	0.257580	T	0.30386	0.0763	N	0.19112	0.55	0.53005	D	0.999964	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.06405	0.001;0.001;0.002;0.001;0.001	T	0.07028	-1.0794	10	0.09338	T	0.73	.	13.7945	0.63162	0.0:0.0:0.6002:0.3998	.	1675;1683;1679;342;339	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	S	1675;342;339;1679;1683;1683;1560;99;39	ENSP00000367948:T1679S;ENSP00000354923:T1683S	ENSP00000354923:T1683S	T	-	2	0	DMD	32292726	0.859000	0.29813	0.991000	0.47740	0.888000	0.51559	0.551000	0.23361	0.135000	0.18707	0.538000	0.68166	ACT		0.363	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		C	32382805	G	C	32382805	3	2	712	1	0	0	0	0	1	0	0	0	4582	1029	36	4	6333	4	DMD	23	32382805	Missense_Mutation	SNP	G	TCGA-KL-8343-01A-11D-2310-10	1184264	32382805	122887755	86	39888											
PRAMEF4	400735	ucsc.edu;mdanderson.org	37	1	12939904	12939904	+	Missense_Mutation	SNP	A	A	C	rs3895133		TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr1:12939904A>C	ENST00000235349.5	-	4	968	c.898T>G	c.(898-900)Ttc>Gtc	p.F300V		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	300					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)		ATTGTGAGGAACTTTAACGAG	0.483																																																0													50	69	62					1																	12939904		1404	2644	4048	SO:0001583	missense	400735				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.898T>G	1.37:g.12939904A>C	ENSP00000235349:p.Phe300Val		Q5LJB5	Missense_Mutation	SNP	ENST00000235349.5	37	CCDS30592.1	.	.	.	.	.	.	.	.	.	.	t	1.416	-0.574302	0.03882	.	.	ENSG00000243073	ENST00000235349	T	0.38887	1.11	1.48	-2.96	0.05547	.	1.221790	0.05721	N	0.597800	T	0.18759	0.0450	N	0.04132	-0.27	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.09207	-1.0685	10	0.37606	T	0.19	.	3.305	0.06997	0.5711:0.149:0.0:0.2799	.	300	O60810	PRAM4_HUMAN	V	300	ENSP00000235349:F300V	ENSP00000235349:F300V	F	-	1	0	PRAMEF4	12862491	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.518000	0.02246	-3.281000	0.00197	-4.216000	0.00009	TTC		0.483	PRAMEF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005518.1	NM_001009611		C	12939904	A	C	12939904	3	2	713	1	0	0	0	0	1	0	0	0	12442	43	2	5	542	5	PRAMEF4	1	12939904	Missense_Mutation	SNP	A	TCGA-KL-8344-01A-11D-2310-10		12939904	236310717	1	39889											
OPRD1	4985	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	29189494	29189494	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr1:29189494G>A	ENST00000234961.2	+	3	1060	c.818G>A	c.(817-819)tGt>tAt	p.C273Y		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	273					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adult locomotory behavior (GO:0008344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|negative regulation of gene expression (GO:0010629)|negative regulation of protein oligomerization (GO:0032460)|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 CREB transcription factor activity (GO:0032793)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein import into nucleus, translocation (GO:0000060)|regulation of calcium ion transport (GO:0051924)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of sensory perception of pain (GO:0051930)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	enkephalin receptor activity (GO:0038046)|opioid receptor activity (GO:0004985)			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	TTCGTGGTGTGTTGGGCGCCC	0.677																																																0													33	29	30					1																	29189494		2201	4298	6499	SO:0001583	missense	4985			U10504	CCDS329.1	1p36.1-p34.3	2012-08-08			ENSG00000116329	ENSG00000116329		"GPCR / Class A : Opioid receptors"	8153	protein-coding gene	gene with protein product		165195				8415697	Standard	NM_000911		Approved		uc001brf.1	P41143	OTTHUMG00000003646	ENST00000234961.2:c.818G>A	1.37:g.29189494G>A	ENSP00000234961:p.Cys273Tyr		B5B0B8	Missense_Mutation	SNP	ENST00000234961.2	37	CCDS329.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.814486	0.70912	.	.	ENSG00000116329	ENST00000234961;ENST00000536280	T	0.54279	0.58	4.06	3.15	0.36227	GPCR, rhodopsin-like superfamily (1);	0.170740	0.53938	D	0.000050	T	0.81264	0.4786	H	0.98951	4.38	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84377	0.0547	10	0.87932	D	0	.	9.3973	0.38410	0.1059:0.0:0.8941:0.0	.	273	P41143	OPRD_HUMAN	Y	273;225	ENSP00000234961:C273Y	ENSP00000234961:C273Y	C	+	2	0	OPRD1	29062081	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.646000	0.98474	0.926000	0.37118	0.462000	0.41574	TGT		0.677	OPRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010330.1	NM_000911		A	29189494	G	A	29189494	3	1	713	1	0	0	0	0	1	0	0	0	10886	1377	48	2	828	2	OPRD1	1	29189494	Missense_Mutation	SNP	G	TCGA-KL-8344-01A-11D-2310-10	16249590	29189494	220061127	2	39890											
DMAP1	55929	hgsc.bcm.edu	37	1	44684410	44684410	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr1:44684410A>G	ENST00000372289.2	+	5	966	c.703A>G	c.(703-705)Aac>Gac	p.N235D	DMAP1_ENST00000488433.1_3'UTR|DMAP1_ENST00000315913.5_Missense_Mutation_p.N235D|DMAP1_ENST00000361745.6_Missense_Mutation_p.N235D	NM_019100.4	NP_061973.1	Q9NPF5	DMAP1_HUMAN	DNA methyltransferase 1 associated protein 1	235					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA methylation (GO:0006306)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription factor import into nucleus (GO:0042993)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|RNA polymerase II repressing transcription factor binding (GO:0001103)|transcription corepressor activity (GO:0003714)			breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(166;0.155)					GCGTCTCTACAACCGGACCCC	0.577											OREG0013437	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													99	94	96					1																	44684410		2203	4300	6503	SO:0001583	missense	55929			AB037846	CCDS509.1	1p34	2009-07-13			ENSG00000178028	ENSG00000178028			18291	protein-coding gene	gene with protein product		605077				10888872, 10718198	Standard	XM_005271039		Approved	DNMAP1, FLJ11543, KIAA1425, DNMTAP1, EAF2, MEAF2, SWC4	uc001clq.1	Q9NPF5	OTTHUMG00000007577	ENST00000372289.2:c.703A>G	1.37:g.44684410A>G	ENSP00000361363:p.Asn235Asp	925	A8K001|D3DPY8|Q0JSM4|Q5TG41|Q7Z3H7|Q9H0S8|Q9P2C2	Missense_Mutation	SNP	ENST00000372289.2	37	CCDS509.1	.	.	.	.	.	.	.	.	.	.	A	14.56	2.570838	0.45798	.	.	ENSG00000178028	ENST00000361745;ENST00000446292;ENST00000372283;ENST00000440641;ENST00000437511;ENST00000315913;ENST00000372289	.	.	.	5.79	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.44726	0.1307	L	0.33293	1	0.58432	D	0.999999	B;B	0.20988	0.05;0.013	B;B	0.17722	0.019;0.019	T	0.35992	-0.9766	9	0.33141	T	0.24	-4.3399	11.2457	0.48996	0.929:0.0:0.071:0.0	.	225;235	B4DQG8;Q9NPF5	.;DMAP1_HUMAN	D	235;235;261;235;261;235;235	.	ENSP00000312697:N235D	N	+	1	0	DMAP1	44456997	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	7.071000	0.76770	2.208000	0.71279	0.533000	0.62120	AAC		0.577	DMAP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020027.3	NM_019100		G	44684410	A	G	44684410	3	3	713	1	0	0	0	0	1	0	0	0	4578	130	5	3	721	3	DMAP1	1	44684410	Missense_Mutation	SNP	A	TCGA-KL-8344-01A-11D-2310-10	15494916	44684410	204566211	3	39891											
TTC22	55001	bcgsc.ca	37	1	55266518	55266518	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr1:55266518C>T	ENST00000371276.4	-	1	422	c.319G>A	c.(319-321)Gca>Aca	p.A107T	TTC22_ENST00000371274.4_Missense_Mutation_p.A107T	NM_001114108.1	NP_001107580.1	Q5TAA0	TTC22_HUMAN	tetratricopeptide repeat domain 22	107										kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						TACACGTGTGCCAGATTGGCC	0.697																																																0													11	13	12					1																	55266518		2190	4288	6478	SO:0001583	missense	55001			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.319G>A	1.37:g.55266518C>T	ENSP00000360323:p.Ala107Thr		Q9NWT4	Missense_Mutation	SNP	ENST00000371276.4	37	CCDS44152.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.540101	0.85917	.	.	ENSG00000006555	ENST00000371276;ENST00000371274	T;T	0.41065	1.01;1.01	4.31	3.39	0.38822	Tetratricopeptide-like helical (1);	0.132843	0.49916	D	0.000126	T	0.38639	0.1048	L	0.59436	1.845	0.45295	D	0.998298	B;B	0.12630	0.006;0.002	B;B	0.12156	0.005;0.007	T	0.31641	-0.9936	10	0.49607	T	0.09	-34.8523	11.2527	0.49034	0.0:0.9079:0.0:0.0921	.	107;107	Q5TAA0;Q5TAA0-2	TTC22_HUMAN;.	T	107	ENSP00000360323:A107T;ENSP00000360321:A107T	ENSP00000360321:A107T	A	-	1	0	TTC22	55039106	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	4.720000	0.61944	1.145000	0.42336	0.462000	0.41574	GCA		0.697	TTC22-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027438.1	NM_017904		T	55266518	C	T	55266518	3	4	713	1	0	0	0	0	1	0	0	0	16694	739	26	2	1521	2	TTC22	1	55266518	Missense_Mutation	SNP	C	TCGA-KL-8344-01A-11D-2310-10	10582108	55266518	193984103	4	39892											
GBP2	2634	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	1	89585913	89585913	+	Missense_Mutation	SNP	A	A	C			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr1:89585913A>C	ENST00000370466.3	-	4	645	c.377T>G	c.(376-378)tTc>tGc	p.F126C	GBP2_ENST00000463660.1_5'Flank	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	126	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.				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)			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)		ATTGTACACGAAGGTGCTGCT	0.463																																																0													225	202	210					1																	89585913		2203	4300	6503	SO:0001583	missense	2634			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.377T>G	1.37:g.89585913A>C	ENSP00000359497:p.Phe126Cys		Q6GPH0|Q6IAU2|Q86TB0	Missense_Mutation	SNP	ENST00000370466.3	37	CCDS719.1	.	.	.	.	.	.	.	.	.	.	A	17.76	3.467875	0.63625	.	.	ENSG00000162645	ENST00000370466	T	0.61980	0.06	3.61	3.61	0.41365	Guanylate-binding protein, N-terminal (1);	0.219316	0.29522	U	0.011901	T	0.77864	0.4194	M	0.93854	3.465	0.33741	D	0.6194	D	0.89917	1.0	D	0.85130	0.997	T	0.82067	-0.0641	10	0.72032	D	0.01	-10.754	10.5469	0.45066	1.0:0.0:0.0:0.0	.	126	P32456	GBP2_HUMAN	C	126	ENSP00000359497:F126C	ENSP00000359497:F126C	F	-	2	0	GBP2	89358501	1.000000	0.71417	0.846000	0.33378	0.978000	0.69477	6.527000	0.73803	1.627000	0.50400	0.524000	0.50904	TTC		0.463	GBP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029406.2	NM_004120		C	89585913	A	C	89585913	3	2	713	1	0	0	0	0	1	0	0	0	6276	246	9	5	1430	5	GBP2	1	89585913	Missense_Mutation	SNP	A	TCGA-KL-8344-01A-11D-2310-10	34319395	89585913	159664708	5	39893											
CHD1L	9557	hgsc.bcm.edu	37	1	146767123	146767123	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr1:146767123C>T	ENST00000369258.4	+	23	2647	c.2627C>T	c.(2626-2628)cCt>cTt	p.P876L	CHD1L_ENST00000431239.1_Missense_Mutation_p.P782L|CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000361293.5_Missense_Mutation_p.P595L|CHD1L_ENST00000369259.3_Missense_Mutation_p.P672L	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	876	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|nucleotide binding (GO:0000166)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					TATTATTTTCCTAGAAGCAAG	0.398																																																0													129	117	121					1																	146767123		2203	4300	6503	SO:0001583	missense	9557			AF054177	CCDS927.1, CCDS58021.1, CCDS58022.1, CCDS72882.1	1q21.1	2008-02-05			ENSG00000131778	ENSG00000131778			1916	protein-coding gene	gene with protein product		613039				9653160	Standard	NM_004284		Approved	ALC1	uc001epm.5	Q86WJ1	OTTHUMG00000150271	ENST00000369258.4:c.2627C>T	1.37:g.146767123C>T	ENSP00000358262:p.Pro876Leu		A5YM64|B4DDE1|B5MDZ7|Q53EZ3|Q5VXX7|Q6DD94|Q6PK83|Q86XH3|Q96HF7|Q96SP3|Q9BVJ1|Q9NVV8	Missense_Mutation	SNP	ENST00000369258.4	37	CCDS927.1	.	.	.	.	.	.	.	.	.	.	C	19.49	3.837832	0.71373	.	.	ENSG00000131778	ENST00000431239;ENST00000369259;ENST00000369258;ENST00000361293	D;T;D;T	0.89123	-2.47;-1.32;-2.35;-1.46	5.27	5.27	0.74061	Appr-1-p processing (1);	0.359172	0.27636	N	0.018488	D	0.90167	0.6927	L	0.58101	1.795	0.58432	D	0.999994	D;D;P	0.60575	0.988;0.96;0.933	P;P;P	0.58721	0.844;0.711;0.518	D	0.90591	0.4537	10	0.62326	D	0.03	.	14.2767	0.66184	0.0:1.0:0.0:0.0	.	782;672;876	Q86WJ1-2;Q86WJ1-3;Q86WJ1	.;.;CHD1L_HUMAN	L	782;672;876;595	ENSP00000389031:P782L;ENSP00000358263:P672L;ENSP00000358262:P876L;ENSP00000355100:P595L	ENSP00000355100:P595L	P	+	2	0	CHD1L	145233747	0.999000	0.42202	0.995000	0.50966	0.912000	0.54170	3.836000	0.55813	2.735000	0.93741	0.655000	0.94253	CCT		0.398	CHD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040377.1	NM_004284		T	146767123	C	T	146767123	3	4	713	1	0	0	0	0	1	0	0	0	3326	681	24	2	2717	2	CHD1L	1	146767123	Missense_Mutation	SNP	C	TCGA-KL-8344-01A-11D-2310-10	57181210	146767123	102483498	6	39894											
HRNR	388697	broad.mit.edu	37	1	152191466	152191466	+	Missense_Mutation	SNP	C	C	T	rs376040395	byFrequency	TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr1:152191466C>T	ENST00000368801.2	-	3	2714	c.2639G>A	c.(2638-2640)cGc>cAc	p.R880H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	880					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.R880H(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)			ATGTCGGCCGCGGCCCGAAGC	0.627													C|||	2	0.000399361	0.0	0.0	5008	,	,		20954	0.0		0.001	False		,,,				2504	0.001															1	Substitution - Missense(1)	large_intestine(1)						C	HIS/ARG	0,4406		0,0,2203	87	95	93		2639	-4.1	0	1		93	1,8599	1.2+/-3.3	0,1,4299	no	missense	HRNR	NM_001009931.1	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	880/2851	152191466	1,13005	2203	4300	6503	SO:0001583	missense	388697			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.2639G>A	1.37:g.152191466C>T	ENSP00000357791:p.Arg880His		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	C	3.616	-0.078540	0.07184	0.0	1.16E-4	ENSG00000197915	ENST00000368801	T	0.01871	4.59	2.07	-4.14	0.03892	.	.	.	.	.	T	0.00271	0.0008	N	0.19112	0.55	0.09310	N	1	P	0.46578	0.88	B	0.19946	0.027	T	0.49214	-0.8963	9	0.15499	T	0.54	.	4.0907	0.09968	0.0:0.2699:0.3225:0.4077	.	880	Q86YZ3	HORN_HUMAN	H	880	ENSP00000357791:R880H	ENSP00000357791:R880H	R	-	2	0	HRNR	150458090	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.906000	0.00171	-2.279000	0.00676	-0.362000	0.07510	CGC		0.627	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		T	152191466	C	T	152191466	3	4	713	1	0	0	0	0	1	0	0	0	7361	768	27	1	5917	1	HRNR	1	152191466	Missense_Mutation	SNP	C	TCGA-KL-8344-01A-11D-2310-10	5424343	152191466	97059155	7	39895											
PPP1R12B	4660	broad.mit.edu;mdanderson.org;bcgsc.ca	37	1	202391786	202391786	+	Missense_Mutation	SNP	A	A	G	rs141572166	byFrequency	TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr1:202391786A>G	ENST00000608999.1	+	3	614	c.461A>G	c.(460-462)aAt>aGt	p.N154S	PPP1R12B_ENST00000480184.1_Missense_Mutation_p.N154S|PPP1R12B_ENST00000356764.2_Missense_Mutation_p.N154S|PPP1R12B_ENST00000336894.4_Missense_Mutation_p.N154S	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	154					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			GGTATTGTCAATAGTGAAGGT	0.418													A|||	2	0.000399361	0.0008	0.0	5008	,	,		19575	0.0		0.001	False		,,,				2504	0.0															0								A	SER/ASN,SER/ASN,SER/ASN	2,4404	4.2+/-10.8	0,2,2201	108	103	104		461,461,461	3.9	0.7	1	dbSNP_134	104	0,8600		0,0,4300	yes	missense,missense,missense	PPP1R12B	NM_001167857.1,NM_001167858.1,NM_002481.3	46,46,46	0,2,6501	GG,GA,AA		0.0,0.0454,0.0154	probably-damaging,probably-damaging,probably-damaging	154/516,154/387,154/983	202391786	2,13004	2203	4300	6503	SO:0001583	missense	4660			AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	7619	protein-coding gene	gene with protein product	"myosin phosphatase regulatory subunit", "myosin phosphatase, target subunit 2"	603768	"protein phosphatase 1, regulatory (inhibitor) subunit 12B"	MYPT2		9570949	Standard	NM_002481		Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.461A>G	1.37:g.202391786A>G	ENSP00000476755:p.Asn154Ser		A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Missense_Mutation	SNP	ENST00000608999.1	37	CCDS1426.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	20.4	3.985689	0.74589	4.54E-4	0.0	ENSG00000077157	ENST00000406302;ENST00000336894;ENST00000480184;ENST00000356764	T;T;T;T	0.55588	0.51;0.51;0.51;0.51	5.09	3.94	0.45596	Ankyrin repeat-containing domain (3);	0.085998	0.49916	D	0.000136	T	0.56558	0.1993	N	0.20574	0.59	0.80722	D	1	D;D;D;D	0.89917	0.999;0.977;1.0;0.999	D;D;D;D	0.79108	0.956;0.958;0.971;0.992	T	0.59984	-0.7351	10	0.66056	D	0.02	.	12.3285	0.55024	0.8585:0.1415:0.0:0.0	.	154;154;154;154	O60237-2;O60237;F8W8M3;Q2TAI8	.;MYPT2_HUMAN;.;.	S	154	ENSP00000384496:N154S;ENSP00000337897:N154S;ENSP00000417159:N154S;ENSP00000349206:N154S	ENSP00000337897:N154S	N	+	2	0	PPP1R12B	200658409	1.000000	0.71417	0.730000	0.30809	0.964000	0.63967	8.694000	0.91293	0.851000	0.35264	0.482000	0.46254	AAT		0.418	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000099166.3	NM_032105		G	202391786	A	G	202391786	3	3	713	1	0	0	0	0	1	0	0	0	12360	101	4	3	471	3	PPP1R12B	1	202391786	Missense_Mutation	SNP	A	TCGA-KL-8344-01A-11D-2310-10	50200320	202391786	46858835	8	39896											
OBSCN	84033	mdanderson.org	37	1	228504669	228504669	+	Silent	SNP	G	G	A	rs61825302	byFrequency	TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr1:228504669G>A	ENST00000422127.1	+	51	13589	c.13545G>A	c.(13543-13545)gcG>gcA	p.A4515A	OBSCN_ENST00000366709.4_Silent_p.A1634A|OBSCN_ENST00000570156.2_Silent_p.A5472A|OBSCN_ENST00000284548.11_Silent_p.A4515A|OBSCN_ENST00000366707.4_Silent_p.A2149A	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4515	Ig-like 46.				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)				TGGCCTCTGCGCGGCTCACCG	0.731													g|||	729	0.145567	0.1218	0.2349	5008	,	,		13931	0.1518		0.159	False		,,,				2504	0.0941															0									,	507,3253		36,435,1409	5	6	6		13545,13545	-6.2	0	1	dbSNP_129	6	1105,6501		71,963,2769	no	coding-synonymous,coding-synonymous	OBSCN	NM_001098623.1,NM_052843.2	,	107,1398,4178	AA,AG,GG		14.528,13.484,14.1827	,	4515/7969,4515/6621	228504669	1612,9754	1880	3803	5683	SO:0001819	synonymous_variant	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.13545G>A	1.37:g.228504669G>A			Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	CCDS58065.1																																																																																				0.731	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		A	228504669	G	A	228504669	2	1	713	1	0	0	0	0	0	0	0	1	10814	1074	38	1		1	OBSCN	1	228504669	Silent	SNP	G	TCGA-KL-8344-01A-11D-2310-10	26112883	228504669	20745952	9	39897											
NCKAP1	10787	broad.mit.edu	37	2	183791547	183791547	+	Silent	SNP	A	A	G			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr2:183791547A>G	ENST00000361354.4	-	30	3639	c.3267T>C	c.(3265-3267)gaT>gaC	p.D1089D	NCKAP1_ENST00000360982.2_Silent_p.D1095D|NCKAP1_ENST00000478449.1_5'Flank	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	1089					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)			GACTTACCATATCTAGCAGTA	0.318																																																0													83	82	82					2																	183791547		2202	4297	6499	SO:0001819	synonymous_variant	10787			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.3267T>C	2.37:g.183791547A>G			O60329|Q53QN5|Q53S94|Q53Y35	Silent	SNP	ENST00000361354.4	37	CCDS2287.1																																																																																				0.318	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	NM_205842		G	183791547	A	G	183791547	2	3	713	1	0	0	0	0	0	0	0	1	10223	446	16	3		3	NCKAP1	2	183791547	Silent	SNP	A	TCGA-KL-8344-01A-11D-2310-10		183791547	59407826	10	39898											
RAPH1	65059	mdanderson.org	37	2	204305990	204305990	+	Silent	SNP	A	A	G			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr2:204305990A>G	ENST00000319170.5	-	14	2222	c.1923T>C	c.(1921-1923)ccT>ccC	p.P641P	RAPH1_ENST00000374493.3_Silent_p.P693P|RAPH1_ENST00000457812.1_Intron|ABI2_ENST00000295851.5_3'UTR	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	641					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						ggggtggtggagggggtggtg	0.602																																																0													5	6	6					2																	204305990		1778	3383	5161	SO:0001819	synonymous_variant	65059			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.1923T>C	2.37:g.204305990A>G			Q96Q37|Q9C0I2	Silent	SNP	ENST00000319170.5	37	CCDS2359.1																																																																																				0.602	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256363.2	NM_025252		G	204305990	A	G	204305990	2	3	713	1	0	0	0	0	0	0	0	1	13056	291	11	3		3	RAPH1	2	204305990	Silent	SNP	A	TCGA-KL-8344-01A-11D-2310-10	20514443	204305990	38893383	11	39899											
PAX3	5077	broad.mit.edu	37	2	223066834	223066834	+	Missense_Mutation	SNP	C	C	T	rs528350431		TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr2:223066834C>T	ENST00000350526.4	-	8	1385	c.1249G>A	c.(1249-1251)Ggg>Agg	p.G417R	PAX3_ENST00000392070.2_Missense_Mutation_p.G417R|PAX3_ENST00000392069.2_Missense_Mutation_p.G417R|PAX3_ENST00000409551.3_Missense_Mutation_p.G416R|PAX3_ENST00000336840.6_Intron|PAX3_ENST00000344493.4_Intron|PAX3_ENST00000464706.1_5'UTR	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	417					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|mammary gland specification (GO:0060594)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of somitogenesis (GO:0014807)|sensory perception of sound (GO:0007605)|spinal cord association neuron differentiation (GO:0021527)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCAGACCCCCGGTGAGAGGG	0.557			T	"FOXO1A, NCOA1"	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						C|||	1	0.000199681	0.0008	0.0	5008	,	,		17596	0.0		0.0	False		,,,				2504	0.0						Dom	yes		2	2q35	5077	paired box gene 3	yes	M	0													78	74	75					2																	223066834		2203	4300	6503	SO:0001583	missense	5077				CCDS2449.1, CCDS2450.1, CCDS2451.1, CCDS42825.1, CCDS2448.1, CCDS42826.1, CCDS46522.1, CCDS46523.1	2q36.1	2011-06-20	2007-07-12		ENSG00000135903	ENSG00000135903		"Paired boxes", "Homeoboxes / PRD class"	8617	protein-coding gene	gene with protein product		606597	"Waardenburg syndrome 1", "paired box gene 3 (Waardenburg syndrome 1)"	WS1		1347149	Standard	NM_181461		Approved	HUP2	uc002vmt.2	P23760	OTTHUMG00000133157	ENST00000350526.4:c.1249G>A	2.37:g.223066834C>T	ENSP00000343052:p.Gly417Arg		G5E9C1|Q16448|Q494Z3|Q494Z4|Q53T90|Q6GSJ9|Q86UQ2|Q86UQ3	Missense_Mutation	SNP	ENST00000350526.4	37	CCDS42826.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.859852	0.91433	.	.	ENSG00000135903	ENST00000392069;ENST00000350526;ENST00000392070;ENST00000409551;ENST00000464706	D;D;D;D	0.94758	-3.39;-3.43;-3.5;-3.51	5.81	5.81	0.92471	.	0.051938	0.85682	D	0.000000	D	0.96423	0.8833	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.999	D;P;D	0.69142	0.962;0.851;0.929	D	0.95648	0.8704	10	0.45353	T	0.12	.	20.0784	0.97758	0.0:1.0:0.0:0.0	.	417;416;417	P23760;Q494Z4;G5E9C1	PAX3_HUMAN;.;.	R	417;417;417;416;134	ENSP00000375921:G417R;ENSP00000343052:G417R;ENSP00000375922:G417R;ENSP00000386750:G416R	ENSP00000343052:G417R	G	-	1	0	PAX3	222775078	1.000000	0.71417	0.967000	0.41034	0.931000	0.56810	4.500000	0.60387	2.736000	0.93811	0.655000	0.94253	GGG		0.557	PAX3-006	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328670.1			T	223066834	C	T	223066834	3	4	713	1	0	0	0	0	1	0	0	0	11482	652	23	1	308	1	PAX3	2	223066834	Missense_Mutation	SNP	C	TCGA-KL-8344-01A-11D-2310-10	18760844	223066834	20132539	12	39900											
ATRIP	84126	bcgsc.ca	37	3	48498818	48498818	+	Splice_Site	SNP	T	T	C			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr3:48498818T>C	ENST00000320211.3	+	5	942		c.e5+2		ATRIP_ENST00000346691.4_Splice_Site|ATRIP_ENST00000357105.6_Splice_Site|ATRIP_ENST00000412052.1_Splice_Site	NM_130384.2	NP_569055.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein						DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCAGAGAGGGTAAGTCCatta	0.408								Other conserved DNA damage response genes																																								0													60	56	57					3																	48498818		2203	4300	6503	SO:0001630	splice_region_variant	84126			AF451323	CCDS2767.1, CCDS2768.1, CCDS59449.1, CCDS59450.1	3p24.3-p22.1	2007-06-20			ENSG00000164053	ENSG00000164053			33499	protein-coding gene	gene with protein product		606605				11721054	Standard	NM_130384		Approved	FLJ12343, MGC20625, MGC21482, MGC26740	uc003ctf.2	Q8WXE1	OTTHUMG00000133532	ENST00000320211.3:c.829+2T>C	3.37:g.48498818T>C			A8K6A3|A8K714|B2RCE7|B4DU92|B5MEB7|Q69YK9|Q8NHQ2|Q8WUG7|Q96CL3|Q9HA30	Splice_Site	SNP	ENST00000320211.3	37	CCDS2768.1	.	.	.	.	.	.	.	.	.	.	T	15.42	2.826973	0.50739	.	.	ENSG00000164053	ENST00000421175;ENST00000320211;ENST00000346691;ENST00000357105;ENST00000412052	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9763	0.53094	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATRIP	48473822	1.000000	0.71417	1.000000	0.80357	0.562000	0.35680	3.830000	0.55768	2.324000	0.78689	0.533000	0.62120	.		0.408	ATRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257507.2	NM_130384	Intron	C	48498818	T	C	48498818	5	2	713	1	0	0	0	0	0	0	1	0	1205	1652	57	3	849	3	ATRIP	3	48498818	Splice_Site	SNP	T	TCGA-KL-8344-01A-11D-2310-10		48498818	149523612	13	39901											
ACTR8	93973	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	3	53914090	53914090	+	Missense_Mutation	SNP	G	G	T			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr3:53914090G>T	ENST00000335754.3	-	2	270	c.170C>A	c.(169-171)aCt>aAt	p.T57N	ACTR8_ENST00000482349.1_5'UTR|AC012467.1_ENST00000410956.1_RNA|ACTR8_ENST00000231909.7_5'Flank	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	57					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	ATP binding (GO:0005524)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		AATCCTTAAAGTTGTTGAACC	0.428																																																0													179	168	172					3																	53914090		2203	4300	6503	SO:0001583	missense	93973				CCDS2875.1	3p21.31	2011-07-06	2001-11-28		ENSG00000113812	ENSG00000113812		"INO80 complex subunits"	14672	protein-coding gene	gene with protein product	"INO80 complex subunit N"		"ARP8 (actin-related protein 8, yeast) homolog"			18163988, 16230350	Standard	NM_022899		Approved	INO80N	uc003dhd.3	Q9H981	OTTHUMG00000158279	ENST00000335754.3:c.170C>A	3.37:g.53914090G>T	ENSP00000336842:p.Thr57Asn		B3KSW7|Q8N566|Q9H663	Missense_Mutation	SNP	ENST00000335754.3	37	CCDS2875.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.541648	0.45280	.	.	ENSG00000113812	ENST00000335754	D	0.94793	-3.52	6.02	6.02	0.97574	.	0.052061	0.85682	D	0.000000	D	0.87297	0.6142	N	0.05078	-0.115	0.80722	D	1	B	0.14012	0.009	B	0.12156	0.007	T	0.82317	-0.0517	10	0.15066	T	0.55	-2.1464	18.3137	0.90210	0.0:0.0:1.0:0.0	.	57	Q9H981	ARP8_HUMAN	N	57	ENSP00000336842:T57N	ENSP00000336842:T57N	T	-	2	0	ACTR8	53889130	1.000000	0.71417	0.956000	0.39512	0.989000	0.77384	4.786000	0.62425	2.865000	0.98341	0.655000	0.94253	ACT		0.428	ACTR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350562.2	NM_022899		T	53914090	G	T	53914090	3	4	713	1	0	0	0	0	1	0	0	0	217	1029	36	4	1752	4	ACTR8	3	53914090	Missense_Mutation	SNP	G	TCGA-KL-8344-01A-11D-2310-10	5415272	53914090	144108340	14	39902											
FAM55C	91775	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	3	101540561	101540561	+	Missense_Mutation	SNP	C	C	G			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr3:101540561C>G	ENST00000491511.2	+	8	2399	c.1443C>G	c.(1441-1443)atC>atG	p.I481M	NXPE3_ENST00000477909.1_Missense_Mutation_p.I481M|RP11-49I4.3_ENST00000490324.2_RNA|NXPE3_ENST00000422132.1_Missense_Mutation_p.I481M|NXPE3_ENST00000273347.5_Missense_Mutation_p.I481M	NM_001134456.1	NP_001127928.1	Q969Y0	NXPE3_HUMAN	neurexophilin and PC-esterase domain family, member 3	481						extracellular region (GO:0005576)											TGGTGGTCATCCGGACGGCCA	0.577																																																0													97	99	99					3																	101540561		2203	4300	6503	SO:0001583	missense	91775			AK054664	CCDS2945.1	3q12.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000144815	ENSG00000144815			28238	protein-coding gene	gene with protein product			"family with sequence similarity 55, member C"	FAM55C		12975309	Standard	NM_001134456		Approved	MGC15606	uc003dvn.3	Q969Y0	OTTHUMG00000159179	ENST00000491511.2:c.1443C>G	3.37:g.101540561C>G	ENSP00000417485:p.Ile481Met		A8K0X4|D3DN53|Q7Z2S8	Missense_Mutation	SNP	ENST00000491511.2	37	CCDS2945.1	.	.	.	.	.	.	.	.	.	.	C	19.76	3.887089	0.72410	.	.	ENSG00000144815	ENST00000273347;ENST00000491511;ENST00000477909;ENST00000422132	T;T;T;T	0.20463	2.07;2.07;2.07;2.07	6.03	1.61	0.23674	.	0.132273	0.64402	D	0.000002	T	0.39860	0.1094	M	0.87097	2.86	0.49798	D	0.999823	D	0.53151	0.958	P	0.57548	0.823	T	0.25187	-1.0139	10	0.87932	D	0	-21.7103	6.309	0.21154	0.2333:0.5725:0.0:0.1942	.	481	Q969Y0	FA55C_HUMAN	M	481	ENSP00000273347:I481M;ENSP00000417485:I481M;ENSP00000418369:I481M;ENSP00000396421:I481M	ENSP00000273347:I481M	I	+	3	3	FAM55C	103023251	0.992000	0.36948	1.000000	0.80357	0.998000	0.95712	0.415000	0.21181	0.397000	0.25310	0.655000	0.94253	ATC		0.577	NXPE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353711.2	NM_145037		G	101540561	C	G	101540561	3	3	713	1	0	0	0	0	1	0	0	0	5588	845	30	4	1461	4	FAM55C	3	101540561	Missense_Mutation	SNP	C	TCGA-KL-8344-01A-11D-2310-10	47626471	101540561	96481869	15	39903											
EIF4G1	1981	mdanderson.org	37	3	184039769	184039770	+	Missense_Mutation	DNP	GA	GA	AG	rs111659103|rs398102387		TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	GA	GA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr3:184039769_184039770GA>AG	ENST00000346169.2	+	10	1668_1669	c.1397_1398GA>AG	c.(1396-1398)gGA>gAG	p.G466E	EIF4G1_ENST00000342981.4_Missense_Mutation_p.G466E|EIF4G1_ENST00000424196.1_Missense_Mutation_p.G473E|EIF4G1_ENST00000352767.3_Missense_Mutation_p.G473E|EIF4G1_ENST00000382330.3_Missense_Mutation_p.G473E|EIF4G1_ENST00000427845.1_Missense_Mutation_p.G379E|EIF4G1_ENST00000435046.2_Missense_Mutation_p.G270E|EIF4G1_ENST00000414031.1_Missense_Mutation_p.G426E|EIF4G1_ENST00000350481.5_Missense_Mutation_p.G302E|EIF4G1_ENST00000319274.6_Missense_Mutation_p.G466E|EIF4G1_ENST00000434061.2_Missense_Mutation_p.G270E|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000441154.1_Missense_Mutation_p.G302E|EIF4G1_ENST00000411531.1_Missense_Mutation_p.G426E|EIF4G1_ENST00000392537.2_Missense_Mutation_p.G379E	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	466	Poly-Glu.		Missing. {ECO:0000269|PubMed:21907011}.		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)			gaggaagaaggagaagcaggag	0.55																																																0																																										SO:0001583	missense	1981			D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"Parkinson disease"	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	Exception_encountered	3.37:g.184039769_184039770delinsAG	ENSP00000316879:p.Gly466Glu		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Silent	DNP	ENST00000346169.2	37	CCDS3259.1																																																																																				0.55	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		AG	184039770	GA	AG	184039769	3	1	713	1	0	0	0	0	1	0	0	0	5038	1174	41	2	1427	2	EIF4G1	3	184039769	Missense_Mutation	DNP	GA	TCGA-KL-8344-01A-11D-2310-10	82499208	184039769	13982661	16	39904	339	2									
EIF4G1	1981	mdanderson.org	37	3	184039775	184039775	+	Missense_Mutation	SNP	C	C	A	rs200221361|rs111659103|rs398102387		TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr3:184039775C>A	ENST00000346169.2	+	10	1674	c.1403C>A	c.(1402-1404)gCa>gAa	p.A468E	EIF4G1_ENST00000342981.4_Missense_Mutation_p.A468E|EIF4G1_ENST00000424196.1_Missense_Mutation_p.A475E|EIF4G1_ENST00000352767.3_Missense_Mutation_p.A475E|EIF4G1_ENST00000382330.3_Missense_Mutation_p.A475E|EIF4G1_ENST00000427845.1_Missense_Mutation_p.A381E|EIF4G1_ENST00000435046.2_Missense_Mutation_p.A272E|EIF4G1_ENST00000414031.1_Missense_Mutation_p.A428E|EIF4G1_ENST00000350481.5_Missense_Mutation_p.A304E|EIF4G1_ENST00000319274.6_Missense_Mutation_p.A468E|EIF4G1_ENST00000434061.2_Missense_Mutation_p.A272E|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000441154.1_Missense_Mutation_p.A304E|EIF4G1_ENST00000411531.1_Missense_Mutation_p.A428E|EIF4G1_ENST00000392537.2_Missense_Mutation_p.A381E	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	468			Missing. {ECO:0000269|PubMed:21907011}.	A -> V (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)			gaaggagaagcaggagaagca	0.537																																																0													61	62	61					3																	184039775		2203	4300	6503	SO:0001583	missense	1981			D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"Parkinson disease"	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.1403C>A	3.37:g.184039775C>A	ENSP00000316879:p.Ala468Glu		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-2.934063	0.00053	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000450424;ENST00000421110;ENST00000382330;ENST00000426123;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000444861;ENST00000441154;ENST00000434061;ENST00000457456;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.62105	0.05;0.05;0.05;0.05;0.05;0.05;0.05;0.05;0.05;0.05;0.05;0.05;0.05;0.05;0.05;0.05;0.05;1.68;0.05	0.321	0.321	0.15883	.	0.503112	0.18663	N	0.134661	T	0.24967	0.0606	N	0.02011	-0.69	0.09310	N	0.999996	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	0.33394	-0.9870	9	0.02654	T	1	.	.	.	.	.	475;468;468;475	E9PFM1;D3DNT2;Q04637;B2RU10	.;.;IF4G1_HUMAN;.	E	468;428;381;468;475;475;409;304;475;381;468;468;475;428;304;304;272;272;272	ENSP00000316879:A468E;ENSP00000391935:A428E;ENSP00000376320:A381E;ENSP00000391412:A468E;ENSP00000413159:A475E;ENSP00000371767:A475E;ENSP00000403269:A409E;ENSP00000317600:A304E;ENSP00000338020:A475E;ENSP00000407682:A381E;ENSP00000343450:A468E;ENSP00000323737:A468E;ENSP00000416255:A475E;ENSP00000395974:A428E;ENSP00000398145:A304E;ENSP00000399858:A304E;ENSP00000411826:A272E;ENSP00000399969:A272E;ENSP00000404754:A272E	ENSP00000323737:A468E	A	+	2	0	EIF4G1	185522469	0.645000	0.27286	0.810000	0.32431	0.154000	0.21943	0.330000	0.19715	0.428000	0.26173	0.121000	0.15741	GCA		0.537	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		A	184039775	C	A	184039775	3	1	713	1	0	0	0	0	1	0	0	0	5038	710	25	4	1433	4	EIF4G1	3	184039775	Missense_Mutation	SNP	C	TCGA-KL-8344-01A-11D-2310-10	6	184039775	13982655	17	39905	339	2									
C4orf32	132720	hgsc.bcm.edu	37	4	113066760	113066760	+	Silent	SNP	G	G	A			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr4:113066760G>A	ENST00000309733.5	+	1	208	c.24G>A	c.(22-24)ctG>ctA	p.L8L		NM_152400.2	NP_689613.1	Q8N8J7	CD032_HUMAN	chromosome 4 open reading frame 32	8						integral component of membrane (GO:0016021)							Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00198)		GGGAGCTGCTGCGGggcggcg	0.801																																																0													4	7	6					4																	113066760		1921	3901	5822	SO:0001819	synonymous_variant	132720			AK096689	CCDS3695.1	4q25	2008-02-05			ENSG00000174749	ENSG00000174749			26813	protein-coding gene	gene with protein product						12477932	Standard	NM_152400		Approved	FLJ39370	uc003iah.2	Q8N8J7	OTTHUMG00000132851	ENST00000309733.5:c.24G>A	4.37:g.113066760G>A			Q49A91|Q4W5C7|Q8TBF9	Silent	SNP	ENST00000309733.5	37	CCDS3695.1																																																																																				0.801	C4orf32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256325.2	NM_152400		A	113066760	G	A	113066760	2	1	713	1	0	0	0	0	0	0	0	1	2264	1306	46	2		2	C4orf32	4	113066760	Silent	SNP	G	TCGA-KL-8344-01A-11D-2310-10		113066760	78087516	18	39906											
KIAA1109	84162	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	4	123160846	123160846	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr4:123160846G>A	ENST00000264501.4	+	29	4382	c.4009G>A	c.(4009-4011)Gtt>Att	p.V1337I	KIAA1109_ENST00000388738.3_Missense_Mutation_p.V1337I|KIAA1109_ENST00000455637.1_Missense_Mutation_p.V1337I|KIAA1109_ENST00000495260.1_3'UTR			Q2LD37	K1109_HUMAN	KIAA1109	1337					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						GCCTGTAACAGTTGGAGTCCA	0.453																																																0													113	107	109					4																	123160846		1929	4137	6066	SO:0001583	missense	84162			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.4009G>A	4.37:g.123160846G>A	ENSP00000264501:p.Val1337Ile		Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.00|15.00	2.702329|2.702329	0.48307|0.48307	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000424425|ENST00000264501;ENST00000388738;ENST00000455637	.|T;T;T	.|0.24151	.|2.46;2.46;1.87	5.98|5.98	5.98|5.98	0.97165|0.97165	.|.	.|0.167504	.|0.24285	.|U	.|0.039870	T|T	0.16171|0.16171	0.0389|0.0389	N|N	0.08118|0.08118	0|0	0.31861|0.31861	N|N	0.620946|0.620946	.|B	.|0.17038	.|0.02	.|B	.|0.19148	.|0.024	T|T	0.08700|0.08700	-1.0709|-1.0709	5|10	.|0.52906	.|T	.|0.07	.|.	15.204|15.204	0.73162|0.73162	0.0:0.0:0.8592:0.1407|0.0:0.0:0.8592:0.1407	.|.	.|1337	.|Q2LD37	.|K1109_HUMAN	N|I	1168|1337	.|ENSP00000264501:V1337I;ENSP00000373390:V1337I;ENSP00000389925:V1337I	.|ENSP00000264501:V1337I	S|V	+|+	2|1	0|0	KIAA1109|KIAA1109	123380296|123380296	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.960000|0.960000	0.62799|0.62799	7.351000|7.351000	0.79395|0.79395	2.843000|2.843000	0.97960|0.97960	0.650000|0.650000	0.86243|0.86243	AGT|GTT		0.453	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		A	123160846	G	A	123160846	3	1	713	1	0	0	0	0	1	0	0	0	8210	1029	36	2	4115	2	KIAA1109	4	123160846	Missense_Mutation	SNP	G	TCGA-KL-8344-01A-11D-2310-10	10094086	123160846	67993430	19	39907											
RASA1	5921	broad.mit.edu	37	5	86564705	86564706	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr5:86564705_86564706insG	ENST00000274376.6	+	1	1001_1002	c.437_438insG	c.(436-441)ttggggfs	p.LG146fs	RASA1_ENST00000512763.1_5'Flank|RASA1_ENST00000456692.2_5'Flank|RASA1_ENST00000506290.1_5'Flank	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	146					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)	p.L146S(1)		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)		CTGCCCCCTTTGGGGGCGGGCC	0.624																																																1	Substitution - Missense(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	5921				CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	9871	protein-coding gene	gene with protein product	"capillary malformation-arteriovenous malformation"	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.442dupG	5.37:g.86564710_86564710dupG	ENSP00000274376:p.Leu146fs		B2R6W3|Q9UDI1	Frame_Shift_Ins	INS	ENST00000274376.6	37	CCDS34200.1																																																																																				0.624	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1	NM_002890		G	86564706	-	G	86564705	7	5	713	1	0	1	1	0	0	0	0	0	13066	1821	63	0	439	0	RASA1	5	86564705	Frame_Shift_Ins	INS	-	TCGA-KL-8344-01A-11D-2310-10		86564705	94350555	20	39908											
HAVCR1	26762	ucsc.edu	37	5	156479572	156479572	+	Missense_Mutation	SNP	A	A	G	rs6149307|rs386693994|rs2862716|rs141023871	byFrequency	TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr5:156479572A>G	ENST00000339252.3	-	3	1005	c.473T>C	c.(472-474)aTg>aCg	p.M158T	HAVCR1_ENST00000544197.1_Missense_Mutation_p.M158T|HAVCR1_ENST00000522693.1_Missense_Mutation_p.M158T|HAVCR1_ENST00000425854.1_Missense_Mutation_p.M158T|HAVCR1_ENST00000523175.1_Missense_Mutation_p.M158T	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	0	11 X 6 AA approximate tandem repeats of V-P-T-T-T-T].|Thr-rich.				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)			AACAGTCGTCATTGGAACAGT	0.488																																																0													415	305	343					5																	156479572		2083	3969	6052	SO:0001583	missense	26762			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.473T>C	5.37:g.156479572A>G	ENSP00000344844:p.Met158Thr		O43656	Missense_Mutation	SNP	ENST00000339252.3	37	CCDS43392.1	.	.	.	.	.	.	.	.	.	.	a	0	-2.643576	0.00111	.	.	ENSG00000113249	ENST00000522693;ENST00000523175;ENST00000339252;ENST00000425854;ENST00000544197;ENST00000518745	T;T;T;T;T;T	0.13196	2.61;2.65;2.65;2.61;2.65;2.67	1.56	-3.12	0.05282	.	.	.	.	.	T	0.03915	0.0110	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.35201	-0.9798	7	0.02654	T	1	.	1.0652	0.01609	0.1371:0.2458:0.3087:0.3084	rs2862716	.	.	.	T	158	ENSP00000428524:M158T;ENSP00000427898:M158T;ENSP00000344844:M158T;ENSP00000403333:M158T;ENSP00000440258:M158T;ENSP00000428422:M158T	ENSP00000344844:M158T	M	-	2	0	HAVCR1	156412150	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	0.922000	0.28734	-2.668000	0.00415	-0.551000	0.04211	ATG		0.488	HAVCR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373698.1			G	156479572	A	G	156479572	3	3	713	1	0	0	0	0	1	0	0	0	6975	217	8	3	645	3	HAVCR1	5	156479572	Missense_Mutation	SNP	A	TCGA-KL-8344-01A-11D-2310-10	69914867	156479572	24435688	21	39909											
EHMT2	10919	broad.mit.edu;mdanderson.org;bcgsc.ca	37	6	31848534	31848534	+	Missense_Mutation	SNP	C	C	A			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr6:31848534C>A	ENST00000375537.4	-	27	3374	c.3368G>T	c.(3367-3369)cGg>cTg	p.R1123L	SLC44A4_ENST00000465707.1_5'Flank|EHMT2_ENST00000375530.4_Missense_Mutation_p.R1089L|SLC44A4_ENST00000375562.4_5'Flank|EHMT2_ENST00000395728.3_Missense_Mutation_p.R1180L|EHMT2_ENST00000480912.1_5'UTR|SLC44A4_ENST00000229729.6_5'Flank|EHMT2_ENST00000375528.4_Missense_Mutation_p.R1146L	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	1123	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				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						CATGAAGACCCGGACGGGAAT	0.567																																																0													169	131	144					6																	31848534		2203	4300	6503	SO:0001583	missense	10919			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.3368G>T	6.37:g.31848534C>A	ENSP00000364687:p.Arg1123Leu		B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Missense_Mutation	SNP	ENST00000375537.4	37	CCDS4725.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.217511	0.79352	.	.	ENSG00000204371	ENST00000395728;ENST00000375528;ENST00000375530;ENST00000375537;ENST00000442298	T;T;T;T	0.80824	-1.42;-1.42;-1.42;-1.42	4.21	4.21	0.49690	SET domain (3);	0.000000	0.64402	D	0.000001	D	0.86053	0.5841	M	0.69358	2.11	0.80722	D	1	P;P;D;D	0.76494	0.683;0.75;0.995;0.999	B;P;P;D	0.72982	0.308;0.515;0.738;0.979	D	0.87823	0.2639	10	0.87932	D	0	.	15.8428	0.78864	0.0:1.0:0.0:0.0	.	1146;1089;1123;944	A2ABF8;Q96KQ7-2;Q96KQ7;Q59FM7	.;.;EHMT2_HUMAN;.	L	1180;1146;1089;1123;944	ENSP00000379078:R1180L;ENSP00000364678:R1146L;ENSP00000364680:R1089L;ENSP00000364687:R1123L	ENSP00000364678:R1146L	R	-	2	0	EHMT2	31956513	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.194000	0.77789	2.355000	0.79922	0.561000	0.74099	CGG		0.567	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	NM_006709		A	31848534	C	A	31848534	3	1	713	1	0	0	0	0	1	0	0	0	4986	652	23	4	272	4	EHMT2	6	31848534	Missense_Mutation	SNP	C	TCGA-KL-8344-01A-11D-2310-10		31848534	139266533	22	39910											
TTBK1	84630	ucsc.edu;bcgsc.ca	37	6	43230987	43230987	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr6:43230987A>G	ENST00000259750.4	+	13	1968	c.1885A>G	c.(1885-1887)Acg>Gcg	p.T629A	TTBK1_ENST00000304139.5_Missense_Mutation_p.T578A	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	629					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)			CCGTTCCGAGACGTCACAGCC	0.716																																																0													13	13	13					6																	43230987		2172	4263	6435	SO:0001583	missense	84630			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.1885A>G	6.37:g.43230987A>G	ENSP00000259750:p.Thr629Ala		A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Missense_Mutation	SNP	ENST00000259750.4	37	CCDS34455.1	.	.	.	.	.	.	.	.	.	.	A	8.995	0.978679	0.18812	.	.	ENSG00000146216	ENST00000259750	T	0.26373	1.74	5.03	2.44	0.29823	.	0.606227	0.16970	N	0.192123	T	0.02610	0.0079	N	0.08118	0	0.80722	D	1	P;B	0.37500	0.597;0.062	B;B	0.31614	0.133;0.017	T	0.25467	-1.0131	10	0.05721	T	0.95	.	7.0043	0.24828	0.7468:0.1613:0.0919:0.0	.	152;629	Q9H6N8;Q5TCY1	.;TTBK1_HUMAN	A	629	ENSP00000259750:T629A	ENSP00000259750:T629A	T	+	1	0	TTBK1	43338965	0.863000	0.29885	0.934000	0.37439	0.385000	0.30292	0.798000	0.27014	0.765000	0.33221	0.460000	0.39030	ACG		0.716	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3			G	43230987	A	G	43230987	3	3	713	1	0	0	0	0	1	0	0	0	16681	275	10	3	1931	3	TTBK1	6	43230987	Missense_Mutation	SNP	A	TCGA-KL-8344-01A-11D-2310-10	11382453	43230987	127884080	23	39911											
SENP6	26054	broad.mit.edu	37	6	76386858	76386858	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr6:76386858delT	ENST00000447266.2	+	14	2212	c.1734delT	c.(1732-1734)aatfs	p.N578fs	SENP6_ENST00000370014.3_Frame_Shift_Del_p.N578fs|SENP6_ENST00000541192.1_Frame_Shift_Del_p.N174fs|SENP6_ENST00000370010.2_Frame_Shift_Del_p.N571fs|SENP6_ENST00000327284.8_Frame_Shift_Del_p.N571fs	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	578					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)				ACATCTCCAATTTTTTTGCGA	0.328																																																0													34	33	33					6																	76386858		1807	4066	5873	SO:0001589	frameshift_variant	26054				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.1734delT	6.37:g.76386858delT	ENSP00000402527:p.Asn578fs		A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Frame_Shift_Del	DEL	ENST00000447266.2	37	CCDS47454.1																																																																																				0.328	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041272.2	NM_015571		-	76386858	T	-	76386858	7	5	713	1	0	1	0	1	0	0	0	0	14056	1490	52	0	1788	0	SENP6	6	76386858	Frame_Shift_Del	DEL	T	TCGA-KL-8344-01A-11D-2310-10	33155871	76386858	94728209	24	39912											
SESN1	27244	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	6	109315685	109315685	+	Missense_Mutation	SNP	C	C	A			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr6:109315685C>A	ENST00000356644.7	-	6	1017	c.923G>T	c.(922-924)aGt>aTt	p.S308I	SESN1_ENST00000436639.2_Missense_Mutation_p.S367I|SESN1_ENST00000302071.2_Missense_Mutation_p.S242I	NM_001199933.1	NP_001186862.1	Q9Y6P5	SESN1_HUMAN	sestrin 1	308					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of cell proliferation (GO:0008285)|regulation of protein kinase B signaling (GO:0051896)|regulation of response to reactive oxygen species (GO:1901031)	nucleus (GO:0005634)				cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)		GACAAACATACTCTCTCTTTT	0.338																																																0													137	123	128					6																	109315685		2203	4299	6502	SO:0001583	missense	27244			AF033120	CCDS5070.1, CCDS56444.1, CCDS56445.1	6q21	2008-10-23			ENSG00000080546	ENSG00000080546			21595	protein-coding gene	gene with protein product		606103				9926927, 7938006	Standard	NM_014454		Approved	SEST1, PA26	uc003psu.3	Q9Y6P5	OTTHUMG00000015338	ENST00000356644.7:c.923G>T	6.37:g.109315685C>A	ENSP00000349061:p.Ser308Ile		Q2M2B7|Q5T316|Q9NV00|Q9UPD5|Q9Y6P6	Missense_Mutation	SNP	ENST00000356644.7	37	CCDS56445.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.297729	0.81025	.	.	ENSG00000080546	ENST00000436639;ENST00000302071;ENST00000356644	T;T;T	0.24350	1.86;1.86;1.86	5.81	5.81	0.92471	.	0.036231	0.85682	D	0.000000	T	0.34832	0.0911	M	0.86953	2.85	0.80722	D	1	P;P	0.48016	0.904;0.611	P;B	0.45829	0.494;0.425	T	0.30475	-0.9977	10	0.38643	T	0.18	-50.3162	20.0912	0.97820	0.0:1.0:0.0:0.0	.	367;308	Q9Y6P5-2;Q9Y6P5	.;SESN1_HUMAN	I	367;242;308	ENSP00000393762:S367I;ENSP00000306734:S242I;ENSP00000349061:S308I	ENSP00000306734:S242I	S	-	2	0	SESN1	109422378	1.000000	0.71417	1.000000	0.80357	0.444000	0.32077	7.487000	0.81328	2.746000	0.94184	0.591000	0.81541	AGT		0.338	SESN1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041738.4	NM_014454		A	109315685	C	A	109315685	3	1	713	1	0	0	0	0	1	0	0	0	14130	565	20	4	575	4	SESN1	6	109315685	Missense_Mutation	SNP	C	TCGA-KL-8344-01A-11D-2310-10	32928827	109315685	61799382	25	39913											
CCDC28A	25901	bcgsc.ca	37	6	139101036	139101036	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr6:139101036T>C	ENST00000332797.6	+	3	661	c.506T>C	c.(505-507)cTc>cCc	p.L169P		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	169										autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		CACTCCTTCCTCACTGATGTC	0.458																																																0													125	114	118					6																	139101036		2203	4300	6503	SO:0001583	missense	25901			AY167571	CCDS5192.1	6q23.1-q24.1	2008-02-05	2005-09-12	2005-09-12	ENSG00000024862	ENSG00000024862			21098	protein-coding gene	gene with protein product		615353	"chromosome 6 open reading frame 80"	C6orf80			Standard	NM_015439		Approved	CCRL1AP, DKFZp586D0623	uc003qie.3	Q8IWP9	OTTHUMG00000015683	ENST00000332797.6:c.506T>C	6.37:g.139101036T>C	ENSP00000332716:p.Leu169Pro		E1P591|Q32NC7|Q66K67|Q96E23|Q9Y430	Missense_Mutation	SNP	ENST00000332797.6	37	CCDS5192.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.527689	0.85706	.	.	ENSG00000024862	ENST00000332797;ENST00000026464	T	0.39229	1.09	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.55924	0.1951	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.60692	-0.7213	10	0.87932	D	0	-13.6279	16.4381	0.83884	0.0:0.0:0.0:1.0	.	169	Q8IWP9	CC28A_HUMAN	P	169;56	ENSP00000332716:L169P	ENSP00000026464:L56P	L	+	2	0	CCDC28A	139142729	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.650000	0.83521	2.280000	0.76307	0.533000	0.62120	CTC		0.458	CCDC28A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042444.1	NM_015439		C	139101036	T	C	139101036	3	2	713	1	0	0	0	0	1	0	0	0	2804	1551	54	3	516	3	CCDC28A	6	139101036	Missense_Mutation	SNP	T	TCGA-KL-8344-01A-11D-2310-10	29785351	139101036	32014031	26	39914											
PCLO	27445	broad.mit.edu	37	7	82579183	82579183	+	Missense_Mutation	SNP	T	T	C	rs201013392		TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr7:82579183T>C	ENST00000333891.9	-	6	11058	c.10721A>G	c.(10720-10722)gAc>gGc	p.D3574G	PCLO_ENST00000423517.2_Missense_Mutation_p.D3574G|PCLO_ENST00000437081.1_Missense_Mutation_p.D294G	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						ACTTTGTGTGTCTGAATCTGC	0.443																																																0								T	GLY/ASP,GLY/ASP	0,4076		0,0,2038	190	183	185		10721,10721	5.7	1	7		185	2,8374		0,2,4186	yes	missense,missense	PCLO	NM_014510.2,NM_033026.5	94,94	0,2,6224	CC,CT,TT		0.0239,0.0,0.0161	probably-damaging,probably-damaging	3574/4936,3574/5143	82579183	2,12450	2038	4188	6226	SO:0001583	missense	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.10721A>G	7.37:g.82579183T>C	ENSP00000334319:p.Asp3574Gly			Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	T	12.24	1.878485	0.33162	0.0	2.39E-4	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.17528	2.29;2.27	5.72	5.72	0.89469	.	.	.	.	.	T	0.35770	0.0943	L	0.50333	1.59	0.51012	D	0.999901	B;D;D	0.63046	0.2;0.992;0.992	B;D;D	0.65233	0.161;0.933;0.933	T	0.05338	-1.0891	9	0.87932	D	0	.	16.007	0.80370	0.0:0.0:0.0:1.0	.	3505;3574;3574	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	G	3505;3574;3574;294	ENSP00000334319:D3574G;ENSP00000388393:D3574G	ENSP00000334319:D3574G	D	-	2	0	PCLO	82417119	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.779000	0.85648	2.182000	0.69389	0.533000	0.62120	GAC		0.443	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		C	82579183	T	C	82579183	3	2	713	1	0	0	0	0	1	0	0	0	11585	1667	58	3	4804	3	PCLO	7	82579183	Missense_Mutation	SNP	T	TCGA-KL-8344-01A-11D-2310-10		82579183	76559480	27	39915											
ANKIB1	54467	bcgsc.ca	37	7	91948698	91948698	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr7:91948698C>T	ENST00000265742.3	+	4	917	c.541C>T	c.(541-543)Cct>Tct	p.P181S		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	181							zinc ion binding (GO:0008270)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TAAAGATACTCCTTGTGATTG	0.368																																																0													64	62	63					7																	91948698		1826	4072	5898	SO:0001583	missense	54467			AB037807	CCDS47639.1	7q21.3	2013-01-10			ENSG00000001629	ENSG00000001629		"Ankyrin repeat domain containing"	22215	protein-coding gene	gene with protein product							Standard	NM_019004		Approved	DKFZP434A0225, KIAA1386	uc003ulw.2	Q9P2G1	OTTHUMG00000155859	ENST00000265742.3:c.541C>T	7.37:g.91948698C>T	ENSP00000265742:p.Pro181Ser		Q6GMS4|Q6P3S9|Q9NTD7|Q9NW49	Missense_Mutation	SNP	ENST00000265742.3	37	CCDS47639.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.588499	0.86851	.	.	ENSG00000001629	ENST00000265742	T	0.60920	0.15	4.77	4.77	0.60923	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.78483	0.4290	M	0.83118	2.625	0.58432	D	0.999999	D	0.89917	1.0	D	0.79784	0.993	T	0.81883	-0.0728	10	0.72032	D	0.01	.	18.3268	0.90256	0.0:1.0:0.0:0.0	.	181	Q9P2G1	AKIB1_HUMAN	S	181	ENSP00000265742:P181S	ENSP00000265742:P181S	P	+	1	0	ANKIB1	91786634	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.224000	0.78042	2.628000	0.89032	0.655000	0.94253	CCT		0.368	ANKIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342018.1			T	91948698	C	T	91948698	3	4	713	1	0	0	0	0	1	0	0	0	630	855	30	2	551	2	ANKIB1	7	91948698	Missense_Mutation	SNP	C	TCGA-KL-8344-01A-11D-2310-10	9369515	91948698	67189965	28	39916											
RB1CC1	9821	broad.mit.edu	37	8	53586752	53586752	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr8:53586752T>C	ENST00000025008.5	-	7	1178	c.655A>G	c.(655-657)Aga>Gga	p.R219G	RB1CC1_ENST00000435644.2_Missense_Mutation_p.R219G|RB1CC1_ENST00000539297.1_Missense_Mutation_p.R219G|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	219					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)				GAATCCAGTCTTCCCAAACAT	0.403																																					GBM(180;1701 2102 13475 42023 52570)											0													184	177	179					8																	53586752		2203	4300	6503	SO:0001583	missense	9821			AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"200 kDa FAK family kinase-interacting protein", "phosphatase 1, regulatory subunit 131"	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.655A>G	8.37:g.53586752T>C	ENSP00000025008:p.Arg219Gly		Q86YR4|Q8WVU9|Q92601	Missense_Mutation	SNP	ENST00000025008.5	37	CCDS34892.1	.	.	.	.	.	.	.	.	.	.	T	18.72	3.683988	0.68157	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	T;T;T	0.15834	2.39;2.39;2.39	5.36	5.36	0.76844	.	0.065424	0.64402	D	0.000004	T	0.23727	0.0574	L	0.38175	1.15	0.50039	D	0.999845	P;P	0.52316	0.952;0.919	P;P	0.53360	0.724;0.534	T	0.00792	-1.1564	10	0.62326	D	0.03	-19.8011	12.2052	0.54348	0.0:0.0:0.1423:0.8577	.	219;219	Q8TDY2-2;Q8TDY2	.;RBCC1_HUMAN	G	219	ENSP00000025008:R219G;ENSP00000396067:R219G;ENSP00000445960:R219G	ENSP00000025008:R219G	R	-	1	2	RB1CC1	53749305	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	3.830000	0.55768	2.151000	0.67156	0.383000	0.25322	AGA		0.403	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	NM_014781		C	53586752	T	C	53586752	3	2	713	1	0	0	0	0	1	0	0	0	13105	1617	56	3	4201	3	RB1CC1	8	53586752	Missense_Mutation	SNP	T	TCGA-KL-8344-01A-11D-2310-10		53586752	92777270	29	39917											
ODF1	4956	ucsc.edu;mdanderson.org	37	8	103573033	103573033	+	Missense_Mutation	SNP	A	A	G	rs143802899|rs568456031|rs377699584|rs62523272|rs386728348|rs58232162	byFrequency	TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr8:103573033A>G	ENST00000285402.3	+	2	830	c.674A>G	c.(673-675)aAc>aGc	p.N225S	ODF1_ENST00000518835.1_Missense_Mutation_p.N18S	NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	225	C-X-P repeat region.		Missing. {ECO:0000269|PubMed:8111388}.		cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|outer dense fiber (GO:0001520)		p.C218_P226delCNPCSPCNP(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			agcccctgcaacccgtgcagc	0.557																																																1	Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(1)											63	60	61					8																	103573033		2183	4220	6403	SO:0001583	missense	4956			M93131	CCDS6293.1	8q22	2011-09-05	2002-10-21		ENSG00000155087	ENSG00000155087		"Heat shock proteins / HSPB"	8113	protein-coding gene	gene with protein product	"cancer/testis antigen 133"	182878	"outer dense fibre of sperm tails 1"			8305202	Standard	NM_024410		Approved	ODFPG, ODF27, RT7, HSPB10, CT133	uc003ykt.2	Q14990	OTTHUMG00000164719	ENST00000285402.3:c.674A>G	8.37:g.103573033A>G	ENSP00000285402:p.Asn225Ser		Q3SX72	Missense_Mutation	SNP	ENST00000285402.3	37	CCDS6293.1	217	0.09935897435897435	29	0.05894308943089431	49	0.13535911602209943	79	0.1381118881118881	60	0.079155672823219	G	0.005	-2.144154	0.00332	.	.	ENSG00000155087	ENST00000285402;ENST00000518835	D;T	0.85088	-1.94;2.08	5.44	-0.902	0.10537	.	0.544159	0.18593	N	0.136697	T	0.01124	0.0037	L	0.38175	1.15	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.04930	-1.0917	10	0.02654	T	1	-14.2311	6.4233	0.21756	0.4671:0.128:0.4049:0.0	rs62523272	225	Q14990	ODFP1_HUMAN	S	225;18	ENSP00000285402:N225S;ENSP00000430023:N18S	ENSP00000285402:N225S	N	+	2	0	ODF1	103642209	0.011000	0.17503	0.007000	0.13788	0.007000	0.05969	0.064000	0.14437	-0.321000	0.08627	-0.128000	0.14901	AAC		0.557	ODF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379884.1			G	103573033	A	G	103573033	3	3	713	1	0	0	0	0	1	0	0	0	10828	43	2	3	680	3	ODF1	8	103573033	Missense_Mutation	SNP	A	TCGA-KL-8344-01A-11D-2310-10	49986281	103573033	42790989	30	39918											
SYBU	55638	broad.mit.edu;mdanderson.org;bcgsc.ca	37	8	110587964	110587964	+	Missense_Mutation	SNP	A	A	T			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr8:110587964A>T	ENST00000422135.1	-	8	1678	c.1163T>A	c.(1162-1164)cTg>cAg	p.L388Q	SYBU_ENST00000408908.2_Missense_Mutation_p.L388Q|SYBU_ENST00000528647.1_Missense_Mutation_p.L387Q|SYBU_ENST00000446070.2_Missense_Mutation_p.L387Q|SYBU_ENST00000533171.1_Missense_Mutation_p.L388Q|SYBU_ENST00000533065.1_Missense_Mutation_p.L269Q|SYBU_ENST00000433638.1_Missense_Mutation_p.L388Q|SYBU_ENST00000527707.1_5'Flank|SYBU_ENST00000440310.1_Missense_Mutation_p.L388Q|SYBU_ENST00000532779.1_Missense_Mutation_p.L320Q|SYBU_ENST00000399066.3_Missense_Mutation_p.L385Q|SYBU_ENST00000276646.9_Missense_Mutation_p.L388Q|SYBU_ENST00000424158.2_Missense_Mutation_p.L393Q|SYBU_ENST00000529690.1_Missense_Mutation_p.L258Q|SYBU_ENST00000529175.1_Missense_Mutation_p.L182Q|SYBU_ENST00000419099.1_Missense_Mutation_p.L387Q|SYBU_ENST00000528331.1_Missense_Mutation_p.L269Q|SYBU_ENST00000533895.1_Missense_Mutation_p.L387Q|SYBU_ENST00000408889.3_Missense_Mutation_p.L269Q	NM_001099744.1	NP_001093214.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	388	Sufficient for interaction with KIF5B.|Sufficient for interaction with STX1A.				regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|dense body (GO:0097433)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						GTCTAGGCACAGTTCGTCCCT	0.483																																																0													74	79	77					8																	110587964		1982	4165	6147	SO:0001583	missense	55638			AB040905	CCDS43763.1, CCDS43764.1, CCDS47912.1, CCDS55271.1	8q23.2	2010-08-27				ENSG00000147642			26011	protein-coding gene	gene with protein product	"syntaphilin-like"	611568				17611281, 16750881, 16157705, 15656992, 15459722	Standard	NM_001099743		Approved	FLJ20366, GOLSYN, KIAA1472, OCSYN, SNPHL	uc003ynj.4	Q9NX95		ENST00000422135.1:c.1163T>A	8.37:g.110587964A>T	ENSP00000407118:p.Leu388Gln		A8K354|B3KQX3|B3KU61|Q5R1T1|Q5R1T2|Q5R1T3|Q5Y2M6|Q8ND49|Q8TCR6|Q96D80|Q9P256	Missense_Mutation	SNP	ENST00000422135.1	37	CCDS47912.1	.	.	.	.	.	.	.	.	.	.	A	10.54	1.378544	0.24944	.	.	ENSG00000147642	ENST00000533895;ENST00000424158;ENST00000532779;ENST00000399066;ENST00000446070;ENST00000528331;ENST00000529175;ENST00000276646;ENST00000528647;ENST00000422135;ENST00000419099;ENST00000433638;ENST00000408908;ENST00000440310;ENST00000408889;ENST00000533065;ENST00000529690;ENST00000533171	.	.	.	5.89	4.62	0.57501	.	0.488467	0.22308	N	0.061771	T	0.34919	0.0914	L	0.41824	1.3	0.32015	N	0.601572	B;B;B;B;B	0.20052	0.041;0.041;0.016;0.041;0.041	B;B;B;B;B	0.16722	0.011;0.016;0.015;0.011;0.011	T	0.35968	-0.9767	9	0.38643	T	0.18	-16.3088	6.0956	0.20019	0.7296:0.0:0.0841:0.1863	.	258;320;387;388;385	B7Z4D2;Q9NX95-2;Q9NX95-3;Q9NX95;Q9NX95-4	.;.;.;SYBU_HUMAN;.	Q	387;393;320;385;387;269;182;388;387;388;387;388;388;388;269;269;258;388	.	ENSP00000276646:L388Q	L	-	2	0	SYBU	110657140	0.868000	0.29978	1.000000	0.80357	0.898000	0.52572	1.700000	0.37815	2.251000	0.74343	0.482000	0.46254	CTG		0.483	SYBU-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385501.1	NM_017786		T	110587964	A	T	110587964	3	4	713	1	0	0	0	0	1	0	0	0	15432	188	7	5	832	5	SYBU	8	110587964	Missense_Mutation	SNP	A	TCGA-KL-8344-01A-11D-2310-10	7014931	110587964	35776058	31	39919											
JAK2	3717	ucsc.edu	37	9	5073722	5073722	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr9:5073722A>G	ENST00000381652.3	+	14	2295	c.1801A>G	c.(1801-1803)Atg>Gtg	p.M601V	JAK2_ENST00000539801.1_Missense_Mutation_p.M601V|JAK2_ENST00000544510.1_Missense_Mutation_p.M452V	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	601	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|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 activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	AGCAAGTATGATGAGCAAGCT	0.353		1	"T, Mis, O"	"ETV6, PCM1, BCR"	"ALL, AML, MPD,  CML"				Polycythemia Vera, Familial																														Dom	yes		9	9p24	3717	Janus kinase 2		L	0													110	122	118					9																	5073722		2203	4299	6502	SO:0001583	missense	3717	Familial Cancer Database			CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"SH2 domain containing"	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.1801A>G	9.37:g.5073722A>G	ENSP00000371067:p.Met601Val		O14636|O75297	Missense_Mutation	SNP	ENST00000381652.3	37	CCDS6457.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.401142	0.83120	.	.	ENSG00000096968	ENST00000539801;ENST00000381652;ENST00000544510	D;D;D	0.86030	-2.06;-2.06;-2.06	5.51	5.51	0.81932	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	0.86653	0.5984	L	0.58428	1.81	0.80722	D	1	P	0.49961	0.93	P	0.48425	0.577	D	0.88353	0.2982	10	0.87932	D	0	-21.4242	15.6147	0.76756	1.0:0.0:0.0:0.0	.	601	O60674	JAK2_HUMAN	V	601;601;452	ENSP00000440387:M601V;ENSP00000371067:M601V;ENSP00000443103:M452V	ENSP00000371067:M601V	M	+	1	0	JAK2	5063722	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.880000	0.92407	2.088000	0.63022	0.482000	0.46254	ATG		0.353	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1			G	5073722	A	G	5073722	3	3	713	1	0	0	0	0	1	0	0	0	7940	333	12	3	1847	3	JAK2	9	5073722	Missense_Mutation	SNP	A	TCGA-KL-8344-01A-11D-2310-10		5073722	136139709	32	39920											
FLJ46321	389763	bcgsc.ca	37	9	84607861	84607861	+	Missense_Mutation	SNP	C	C	T	rs552420674		TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr9:84607861C>T	ENST00000344803.2	+	4	2523	c.2476C>T	c.(2476-2478)Ctt>Ttt	p.L826F		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	826					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TCAGAAACAACTTGAAAATGC	0.453																																																0													71	67	68					9																	84607861		1858	4087	5945	SO:0001583	missense	389763				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"family with sequence similarity 75, member D1"	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.2476C>T	9.37:g.84607861C>T	ENSP00000341988:p.Leu826Phe			Missense_Mutation	SNP	ENST00000344803.2	37	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	C	8.324	0.825025	0.16678	.	.	ENSG00000214929	ENST00000344803	T	0.10668	2.85	2.74	0.327	0.15913	.	2.011690	0.02194	N	0.061661	T	0.22551	0.0544	L	0.45581	1.43	0.09310	N	1	D	0.89917	1.0	D	0.81914	0.995	T	0.11966	-1.0566	10	0.33141	T	0.24	-2.2865	2.442	0.04497	0.2628:0.5151:0.0:0.2221	.	826	Q6ZQQ2	F75D1_HUMAN	F	826	ENSP00000341988:L826F	ENSP00000341988:L826F	L	+	1	0	FAM75D1	83797681	0.003000	0.15002	0.003000	0.11579	0.053000	0.15095	0.692000	0.25482	0.072000	0.16694	0.563000	0.77884	CTT		0.453	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		T	84607861	C	T	84607861	3	4	713	1	0	0	0	0	1	0	0	0	5934	565	20	2	2490	2	FLJ46321	9	84607861	Missense_Mutation	SNP	C	TCGA-KL-8344-01A-11D-2310-10	79534139	84607861	56605570	33	39921											
RC3H2	54542	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	9	125616244	125616244	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr9:125616244A>G	ENST00000373670.1	-	17	3704	c.3104T>C	c.(3103-3105)cTa>cCa	p.L1035P	RC3H2_ENST00000423239.2_Missense_Mutation_p.L1035P|RC3H2_ENST00000357244.2_Missense_Mutation_p.L1035P			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	1035					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						TCCATTTCTTAGTTCAATTTC	0.413																																																0													119	109	112					9																	125616244		1885	4119	6004	SO:0001583	missense	54542			AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"RING-type (C3HC4) zinc fingers", "Zinc fingers, CCCH-type domain containing"	21461	protein-coding gene	gene with protein product		615231	"membrane associated DNA binding protein", "ring finger and CCCH-type zinc finger domains 2"	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.3104T>C	9.37:g.125616244A>G	ENSP00000362774:p.Leu1035Pro		Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Missense_Mutation	SNP	ENST00000373670.1	37	CCDS43874.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.66|17.66	3.443823|3.443823	0.63067|0.63067	.|.	.|.	ENSG00000056586|ENSG00000056586	ENST00000373670;ENST00000357244;ENST00000373663;ENST00000423239|ENST00000454740	T;T;T|.	0.54675|.	0.77;0.77;0.56|.	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	0.000000|.	0.64402|.	D|.	0.000014|.	T|.	0.38852|.	0.1056|.	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	D;D|.	0.69078|.	0.995;0.997|.	D;D|.	0.78314|.	0.979;0.991|.	T|.	0.34304|.	-0.9834|.	10|.	0.46703|.	T|.	0.11|.	-19.9616|-19.9616	14.3157|14.3157	0.66450|0.66450	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1035;1035|.	Q9HBD1;Q9HBD1-4|.	RC3H2_HUMAN;.|.	P|Q	1035;1035;906;1035|94	ENSP00000362774:L1035P;ENSP00000349783:L1035P;ENSP00000411767:L1035P|.	ENSP00000349783:L1035P|.	L|X	-|-	2|1	0|0	RC3H2|RC3H2	124656065|124656065	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.078000|4.078000	0.57606|0.57606	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	CTA|TAA		0.413	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053966.1	NM_018835		G	125616244	A	G	125616244	3	3	713	1	0	0	0	0	1	0	0	0	13173	420	15	3	565	3	RC3H2	9	125616244	Missense_Mutation	SNP	A	TCGA-KL-8344-01A-11D-2310-10	41008383	125616244	15597187	34	39922											
RAPGEF1	2889	broad.mit.edu;bcgsc.ca	37	9	134504010	134504010	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr9:134504010T>C	ENST00000372189.3	-	8	1015	c.892A>G	c.(892-894)Acc>Gcc	p.T298A	RAPGEF1_ENST00000372190.3_Missense_Mutation_p.T316A|RAPGEF1_ENST00000481260.1_5'UTR|RAPGEF1_ENST00000372195.1_Missense_Mutation_p.T315A	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	298					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)		GCCACTCGGGTAGGGGACGGC	0.587																																																0													51	55	54					9																	134504010		1946	4146	6092	SO:0001583	missense	2889			BC041710	CCDS48047.1	9q34.3	2008-02-05	2004-03-01	2004-03-02	ENSG00000107263	ENSG00000107263			4568	protein-coding gene	gene with protein product		600303	"guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)"	GRF2		7959692, 7512734	Standard	NM_005312		Approved	C3G	uc022bos.1	Q13905	OTTHUMG00000020829	ENST00000372189.3:c.892A>G	9.37:g.134504010T>C	ENSP00000361263:p.Thr298Ala		Q5JUE4|Q8IV73	Missense_Mutation	SNP	ENST00000372189.3	37	CCDS48047.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.437067	0.83885	.	.	ENSG00000107263	ENST00000266110;ENST00000372195;ENST00000429421;ENST00000372189;ENST00000372190;ENST00000411834;ENST00000337036;ENST00000357686	T;T;T	0.47869	0.83;0.83;0.83	5.0	5.0	0.66597	.	0.204155	0.50627	D	0.000108	T	0.59742	0.2216	M	0.64997	1.995	0.53688	D	0.999979	D;D;D	0.61080	0.982;0.964;0.989	P;P;P	0.60949	0.764;0.764;0.881	T	0.56498	-0.7969	10	0.20046	T	0.44	.	13.8882	0.63721	0.0:0.0:0.0:1.0	.	315;298;316	Q68DL3;Q13905;Q13905-3	.;RPGF1_HUMAN;.	A	298;315;192;298;316;278;224;315	ENSP00000361269:T315A;ENSP00000361263:T298A;ENSP00000361264:T316A	ENSP00000266110:T298A	T	-	1	0	RAPGEF1	133493831	1.000000	0.71417	0.943000	0.38184	0.944000	0.59088	5.628000	0.67791	1.873000	0.54277	0.379000	0.24179	ACC		0.587	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054759.2	NM_005312		C	134504010	T	C	134504010	3	2	713	1	0	0	0	0	1	0	0	0	13049	1638	57	3	2409	3	RAPGEF1	9	134504010	Missense_Mutation	SNP	T	TCGA-KL-8344-01A-11D-2310-10	8887766	134504010	6709421	35	39923											
ARID5B	84159	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	10	63851395	63851395	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr10:63851395A>G	ENST00000279873.7	+	10	2583	c.2173A>G	c.(2173-2175)Agg>Ggg	p.R725G	ARID5B_ENST00000309334.5_Missense_Mutation_p.R482G	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	725					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)					ACTGATTGCTAGGGATGACTT	0.527																																																0													117	117	117					10																	63851395		2203	4300	6503	SO:0001583	missense	84159			M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"-"	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.2173A>G	10.37:g.63851395A>G	ENSP00000279873:p.Arg725Gly		B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Missense_Mutation	SNP	ENST00000279873.7	37	CCDS31208.1	.	.	.	.	.	.	.	.	.	.	A	11.39	1.623365	0.28889	.	.	ENSG00000150347	ENST00000279873;ENST00000309334	T;T	0.48836	0.81;0.8	5.87	2.04	0.26737	.	0.348813	0.35407	N	0.003240	T	0.35595	0.0937	L	0.46157	1.445	0.38041	D	0.93547	P	0.38922	0.651	B	0.29598	0.104	T	0.23226	-1.0194	10	0.40728	T	0.16	-22.096	13.3072	0.60359	0.6222:0.3778:0.0:0.0	.	725	Q14865	ARI5B_HUMAN	G	725;482	ENSP00000279873:R725G;ENSP00000308862:R482G	ENSP00000279873:R725G	R	+	1	2	ARID5B	63521401	0.973000	0.33851	0.231000	0.23993	0.995000	0.86356	2.314000	0.43743	0.088000	0.17205	0.533000	0.62120	AGG		0.527	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	XM_084482		G	63851395	A	G	63851395	3	3	713	1	0	0	0	0	1	0	0	0	922	411	15	3	2211	3	ARID5B	10	63851395	Missense_Mutation	SNP	A	TCGA-KL-8344-01A-11D-2310-10		63851395	71683352	36	39924											
TALDO1	6888	broad.mit.edu	37	11	763428	763428	+	Silent	SNP	T	T	G			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr11:763428T>G	ENST00000319006.3	+	5	699	c.546T>G	c.(544-546)ggT>ggG	p.G182G	TALDO1_ENST00000528097.1_Silent_p.G182G			P37837	TALDO_HUMAN	transaldolase 1	182					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glyceraldehyde-3-phosphate metabolic process (GO:0019682)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|small molecule metabolic process (GO:0044281)|xylulose biosynthetic process (GO:0005999)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	monosaccharide binding (GO:0048029)|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity (GO:0004801)			breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2)	14		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)		CCGAGGCGGGTGTGACCCTCA	0.607																																																0													131	120	124					11																	763428		2203	4300	6503	SO:0001819	synonymous_variant	6888				CCDS7712.1	11p15.5-p15.4	2009-12-02			ENSG00000177156	ENSG00000177156	2.2.1.2		11559	protein-coding gene	gene with protein product		602063				9339383	Standard	NM_006755		Approved		uc001lqz.3	P37837	OTTHUMG00000133318	ENST00000319006.3:c.546T>G	11.37:g.763428T>G			B2R8M2|O00751|Q8WV32|Q8WZ45	Silent	SNP	ENST00000319006.3	37	CCDS7712.1																																																																																				0.607	TALDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257116.1	NM_006755		G	763428	T	G	763428	2	3	713	1	0	0	0	0	0	0	0	1	15548	1683	59	5		5	TALDO1	11	763428	Silent	SNP	T	TCGA-KL-8344-01A-11D-2310-10		763428	134243088	37	39925											
MUC2	4583	mdanderson.org	37	11	1093158	1093158	+	Silent	SNP	T	T	C	rs202045556		TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr11:1093158T>C	ENST00000441003.2	+	30	5004	c.4977T>C	c.(4975-4977)acT>acC	p.T1659T	MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000361558.6_Intron|MUC2_ENST00000359061.5_Silent_p.T1626T	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				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)	ccaccaccactacggtgacac	0.637																																																0													135	203	179					11																	1093158		1808	3330	5138	SO:0001819	synonymous_variant	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.4977T>C	11.37:g.1093158T>C			Q14878	Silent	SNP	ENST00000441003.2	37																																																																																					0.637	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		C	1093158	T	C	1093158	2	2	713	1	0	0	0	0	0	0	0	1	9977	1509	53	3		3	MUC2	11	1093158	Silent	SNP	T	TCGA-KL-8344-01A-11D-2310-10	329730	1093158	133913358	38	39926											
OSBPL5	114879	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	11	3114269	3114269	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr11:3114269C>T	ENST00000263650.7	-	18	2119	c.1960G>A	c.(1960-1962)Gtc>Atc	p.V654I	OSBPL5_ENST00000389989.3_Missense_Mutation_p.V586I|OSBPL5_ENST00000525498.1_Missense_Mutation_p.V565I|OSBPL5_ENST00000542243.1_Missense_Mutation_p.V285I|OSBPL5_ENST00000348039.5_Missense_Mutation_p.V586I|OSBPL5_ENST00000478260.1_Missense_Mutation_p.V108I	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	654					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)		GCCCTGGTGACGTGCTGCCAG	0.682																																																0													35	29	31					11																	3114269		2201	4295	6496	SO:0001583	missense	114879			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.1960G>A	11.37:g.3114269C>T	ENSP00000263650:p.Val654Ile		A6NDP0|A6NJS8|Q54A90|Q8N596|Q9BZB0|Q9P1Z4	Missense_Mutation	SNP	ENST00000263650.7	37	CCDS31344.1	.	.	.	.	.	.	.	.	.	.	C	32	5.169387	0.94768	.	.	ENSG00000021762	ENST00000478260;ENST00000263650;ENST00000389989;ENST00000534454;ENST00000525498;ENST00000542243;ENST00000348039;ENST00000357352	T;T;T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23;1.23;1.23	4.38	4.38	0.52667	.	0.000000	0.64402	D	0.000003	T	0.69788	0.3150	M	0.93375	3.41	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	0.80108	-0.1520	10	0.87932	D	0	-24.8915	16.7396	0.85455	0.0:1.0:0.0:0.0	.	565;586;654	B4DVB0;Q8N596;Q9H0X9	.;.;OSBL5_HUMAN	I	108;654;586;207;565;285;586;273	ENSP00000437141:V108I;ENSP00000263650:V654I;ENSP00000374639:V586I;ENSP00000431412:V207I;ENSP00000433342:V565I;ENSP00000441551:V285I;ENSP00000302872:V586I	ENSP00000263650:V654I	V	-	1	0	OSBPL5	3070845	1.000000	0.71417	0.999000	0.59377	0.929000	0.56500	6.843000	0.75384	2.275000	0.75901	0.561000	0.74099	GTC		0.682	OSBPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032332.2			T	3114269	C	T	3114269	3	4	713	1	0	0	0	0	1	0	0	0	11282	536	19	1	699	1	OSBPL5	11	3114269	Missense_Mutation	SNP	C	TCGA-KL-8344-01A-11D-2310-10	2021111	3114269	131892247	39	39927											
LRRC4C	57689	broad.mit.edu;mdanderson.org	37	11	40136544	40136544	+	Silent	SNP	C	C	G			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr11:40136544C>G	ENST00000278198.2	-	2	3262	c.1299G>C	c.(1297-1299)ggG>ggC	p.G433G	LRRC4C_ENST00000528697.1_Silent_p.G433G|LRRC4C_ENST00000530763.1_Silent_p.G433G|LRRC4C_ENST00000527150.1_Silent_p.G433G			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	433	Ig-like C2-type.				regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				CAGTAGTATTCCCAACGGAAT	0.443																																																0													188	168	174					11																	40136544		2203	4300	6503	SO:0001819	synonymous_variant	57689			AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"Immunoglobulin superfamily / I-set domain containing"	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.1299G>C	11.37:g.40136544C>G			A8K0T1|Q7L0N3	Silent	SNP	ENST00000278198.2	37	CCDS31464.1																																																																																				0.443	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		G	40136544	C	G	40136544	2	3	713	1	0	0	0	0	0	0	0	1	9010	842	30	4		4	LRRC4C	11	40136544	Silent	SNP	C	TCGA-KL-8344-01A-11D-2310-10	37022275	40136544	94869972	40	39928											
OR4A16	81327	mdanderson.org	37	11	55111509	55111509	+	Missense_Mutation	SNP	T	T	C	rs75872349		TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr11:55111509T>C	ENST00000314721.2	+	1	883	c.833T>C	c.(832-834)cTc>cCc	p.L278P		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	278						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						ATTATCACACTCATGTTGAAT	0.318																																																0													88	83	85					11																	55111509		2201	4296	6497	SO:0001583	missense	81327			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.833T>C	11.37:g.55111509T>C	ENSP00000325128:p.Leu278Pro		Q6IFL3	Missense_Mutation	SNP	ENST00000314721.2	37	CCDS31499.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	c	0.003	-2.557746	0.00136	.	.	ENSG00000181961	ENST00000314721	T	0.30714	1.52	2.86	1.94	0.25998	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.11793	0.0287	N	0.08118	0	0.42276	D	0.992077	B	0.02656	0.0	B	0.01281	0.0	T	0.23332	-1.0191	9	0.02654	T	1	.	8.2698	0.31838	0.0:0.87:0.0:0.13	.	278	Q8NH70	O4A16_HUMAN	P	278	ENSP00000325128:L278P	ENSP00000325128:L278P	L	+	2	0	OR4A16	54868085	0.136000	0.22515	0.992000	0.48379	0.230000	0.25150	2.565000	0.45939	0.507000	0.28148	-0.968000	0.02614	CTC		0.318	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		C	55111509	T	C	55111509	3	2	713	1	0	0	0	0	1	0	0	0	11043	1551	54	3	835	3	OR4A16	11	55111509	Missense_Mutation	SNP	T	TCGA-KL-8344-01A-11D-2310-10	14974965	55111509	79895007	41	39929											
CASP4	837	bcgsc.ca	37	11	104817887	104817887	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr11:104817887A>G	ENST00000444739.2	-	7	1868	c.958T>C	c.(958-960)Tct>Cct	p.S320P	CASP4_ENST00000393150.3_Missense_Mutation_p.S264P|CASP4_ENST00000531333.1_5'Flank	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	320					apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|IPAF inflammasome complex (GO:0072557)|membrane (GO:0016020)|mitochondrion (GO:0005739)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activity (GO:0004197)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		ATGAAGATAGAGCCCATTGTG	0.403																																																0													198	178	185					11																	104817887		2202	4299	6501	SO:0001583	missense	837			U25804	CCDS8327.1, CCDS41704.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000196954	ENSG00000196954		"Caspases"	1505	protein-coding gene	gene with protein product		602664	"caspase 4, apoptosis-related cysteine protease"			7797510, 9250871	Standard	NM_001225		Approved	ICE(rel)II, ICH-2, TX	uc001pid.1	P49662	OTTHUMG00000166078	ENST00000444739.2:c.958T>C	11.37:g.104817887A>G	ENSP00000388566:p.Ser320Pro		A2NHL8|A2NHM0	Missense_Mutation	SNP	ENST00000444739.2	37	CCDS8327.1	.	.	.	.	.	.	.	.	.	.	A	13.92	2.381149	0.42207	.	.	ENSG00000196954	ENST00000444739;ENST00000393150;ENST00000355546	T;T	0.36520	1.25;1.25	5.11	5.11	0.69529	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase non-catalytic subunit p10 (1);Peptidase C14, caspase precursor p45, core (2);	0.063418	0.64402	D	0.000004	T	0.69151	0.3079	H	0.94462	3.54	0.53688	D	0.999978	D	0.89917	1.0	D	0.97110	1.0	T	0.78201	-0.2296	10	0.72032	D	0.01	.	12.8401	0.57797	1.0:0.0:0.0:0.0	.	320	P49662	CASP4_HUMAN	P	320;264;273	ENSP00000388566:S320P;ENSP00000376857:S264P	ENSP00000347741:S273P	S	-	1	0	CASP4	104323097	1.000000	0.71417	0.146000	0.22360	0.021000	0.10359	4.319000	0.59197	1.912000	0.55364	0.528000	0.53228	TCT		0.403	CASP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387751.1	NM_001225		G	104817887	A	G	104817887	3	3	713	1	0	0	0	0	1	0	0	0	2675	304	11	3	183	3	CASP4	11	104817887	Missense_Mutation	SNP	A	TCGA-KL-8344-01A-11D-2310-10	49706378	104817887	30188629	42	39930											
TMPRSS13	84000	ucsc.edu;mdanderson.org	37	11	117789317	117789317	+	Silent	SNP	T	T	C	rs201746372|rs58754377|rs201369736		TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr11:117789317T>C	ENST00000430170.2	-	2	345	c.258A>G	c.(256-258)ccA>ccG	p.P86P	TMPRSS13_ENST00000526090.1_Silent_p.P86P|TMPRSS13_ENST00000445164.2_Silent_p.P86P|TMPRSS13_ENST00000524993.1_Silent_p.P86P|TMPRSS13_ENST00000528626.1_Silent_p.P86P	NM_001244995.1	NP_001231924.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	86	13 X 5 AA repeats of A-S-P-A-[GLQR].|Ala-rich.					blood microparticle (GO:0072562)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.Q83_A87delQASPA(1)		endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		ATGCCCGGGCTGGAGATGCCT	0.652																																																1	Deletion - In frame(1)	urinary_tract(1)											34	41	38					11																	117789317		1955	4135	6090	SO:0001819	synonymous_variant	84000			AB048796	CCDS41721.1, CCDS55788.1, CCDS55789.1, CCDS58185.1	11q23	2010-04-13	2005-03-11	2005-03-12	ENSG00000137747	ENSG00000137747		"Serine peptidases / Transmembrane"	29808	protein-coding gene	gene with protein product		610050	"transmembrane protease, serine 11"	TMPRSS11		11267681	Standard	NM_001077263		Approved	MSPL	uc001prs.2	Q9BYE2	OTTHUMG00000166992	ENST00000430170.2:c.258A>G	11.37:g.117789317T>C			B4DTM9|E9PIJ5|F8WAJ3|Q86YM4|Q96JY8|Q9BYE1	Silent	SNP	ENST00000430170.2	37	CCDS58185.1																																																																																				0.652	TMPRSS13-006	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000392318.1	NM_032046		C	117789317	T	C	117789317	2	2	713	1	0	0	0	0	0	0	0	1	16250	1567	55	3		3	TMPRSS13	11	117789317	Silent	SNP	T	TCGA-KL-8344-01A-11D-2310-10	12971430	117789317	17217199	43	39931											
LRRK2	120892	mdanderson.org	37	12	40728900	40728900	+	Silent	SNP	A	A	G			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr12:40728900A>G	ENST00000298910.7	+	40	5947	c.5889A>G	c.(5887-5889)aaA>aaG	p.K1963K		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1963	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)				AGCAGGACAAAGCCAGCCTCA	0.502																																																0													120	111	114					12																	40728900		2203	4300	6503	SO:0001819	synonymous_variant	120892			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.5889A>G	12.37:g.40728900A>G			A6NJU2|Q6ZS50|Q8NCX9	Silent	SNP	ENST00000298910.7	37	CCDS31774.1																																																																																				0.502	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		G	40728900	A	G	40728900	2	3	713	1	0	0	0	0	0	0	0	1	9035	69	3	3		3	LRRK2	12	40728900	Silent	SNP	A	TCGA-KL-8344-01A-11D-2310-10		40728900	93122995	44	39932											
WDR66	144406	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	12	122406016	122406016	+	Silent	SNP	C	C	T			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr12:122406016C>T	ENST00000288912.4	+	17	3566	c.2712C>T	c.(2710-2712)tgC>tgT	p.C904C	WDR66_ENST00000397454.2_Silent_p.C904C|WDR66_ENST00000545752.1_3'UTR	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	904							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)		ATGATGGCTGCTACGCCTTCA	0.537																																					Esophageal Squamous(85;849 1794 49757 52143)											0													69	69	69					12																	122406016		1964	4142	6106	SO:0001819	synonymous_variant	144406			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.2712C>T	12.37:g.122406016C>T			C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Silent	SNP	ENST00000288912.4	37	CCDS41853.1																																																																																				0.537	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401700.1	NM_144668		T	122406016	C	T	122406016	2	4	713	1	0	0	0	0	0	0	0	1	17322	805	28	2		2	WDR66	12	122406016	Silent	SNP	C	TCGA-KL-8344-01A-11D-2310-10	81677116	122406016	11445879	45	39933											
PITPNM2	57605	broad.mit.edu	37	12	123481375	123481375	+	Missense_Mutation	SNP	T	T	G			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr12:123481375T>G	ENST00000542749.1	-	10	1618	c.1555A>C	c.(1555-1557)Acc>Ccc	p.T519P	PITPNM2_ENST00000320201.4_Missense_Mutation_p.T519P|PITPNM2_ENST00000392428.1_Missense_Mutation_p.T240P|PITPNM2_ENST00000280562.5_Missense_Mutation_p.T519P			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	519					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)		GGGGAGGAGGTGGCCAGCAGG	0.622																																																0													48	49	49					12																	123481375		2203	4300	6503	SO:0001583	missense	57605			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.1555A>C	12.37:g.123481375T>G	ENSP00000437611:p.Thr519Pro		Q9P271	Missense_Mutation	SNP	ENST00000542749.1	37	CCDS9242.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.616441	0.87359	.	.	ENSG00000090975	ENST00000280562;ENST00000320201;ENST00000392428;ENST00000542749	T;T;T;T	0.20200	2.09;2.09;2.09;2.09	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.46132	0.1377	M	0.76328	2.33	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.81914	0.947;0.995	T	0.49273	-0.8957	10	0.62326	D	0.03	-37.3047	14.1235	0.65205	0.0:0.0:0.0:1.0	.	519;519	Q9BZ72-2;Q9BZ72	.;PITM2_HUMAN	P	519;519;240;519	ENSP00000280562:T519P;ENSP00000322218:T519P;ENSP00000376223:T240P;ENSP00000437611:T519P	ENSP00000280562:T519P	T	-	1	0	PITPNM2	122047328	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.252000	0.72447	1.750000	0.51863	0.254000	0.18369	ACC		0.622	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845		G	123481375	T	G	123481375	3	3	713	1	0	0	0	0	1	0	0	0	11953	1696	59	5	2554	5	PITPNM2	12	123481375	Missense_Mutation	SNP	T	TCGA-KL-8344-01A-11D-2310-10	1075359	123481375	10370520	46	39934											
C13orf34	79866	broad.mit.edu	37	13	73320117	73320117	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr13:73320117delA	ENST00000390667.5	+	9	871	c.774delA	c.(772-774)gcafs	p.A258fs	BORA_ENST00000377815.3_Frame_Shift_Del_p.A188fs	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN	bora, aurora kinase A activator	258	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)										AGGCTAGTGCAAAAAAATACA	0.383																																																0													103	98	100					13																	73320117		1807	4062	5869	SO:0001589	frameshift_variant	79866			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.774delA	13.37:g.73320117delA	ENSP00000375082:p.Ala258fs		B4DQ30|Q5W0P3|Q5W0P4|Q86YC6|Q96IW9|Q9H640	Frame_Shift_Del	DEL	ENST00000390667.5	37	CCDS9446.1																																																																																				0.383	BORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045245.3	NM_024808		-	73320117	A	-	73320117	7	5	713	1	0	1	0	1	0	0	0	0	1730	117	5	0	804	0	C13orf34	13	73320117	Frame_Shift_Del	DEL	A	TCGA-KL-8344-01A-11D-2310-10		73320117	41849761	47	39935											
COL4A1	1282	broad.mit.edu;bcgsc.ca	37	13	110833715	110833715	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr13:110833715T>C	ENST00000375820.4	-	29	2238	c.2117A>G	c.(2116-2118)gAc>gGc	p.D706G		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	706	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TGGCCCCATGTCTCCAGGTAA	0.493																																																0													41	40	41					13																	110833715		2203	4300	6503	SO:0001583	missense	1282			J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"Collagens"	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.2117A>G	13.37:g.110833715T>C	ENSP00000364979:p.Asp706Gly		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	ENST00000375820.4	37	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	T	9.991	1.230828	0.22542	.	.	ENSG00000187498	ENST00000375820	D	0.93488	-3.23	4.86	3.69	0.42338	.	0.565133	0.18815	N	0.130417	D	0.89181	0.6642	L	0.43923	1.385	0.80722	D	1	P	0.50066	0.931	P	0.44359	0.447	D	0.85446	0.1158	10	0.22109	T	0.4	.	8.5381	0.33375	0.0:0.0:0.2674:0.7326	.	706	P02462	CO4A1_HUMAN	G	706	ENSP00000364979:D706G	ENSP00000364979:D706G	D	-	2	0	COL4A1	109631716	0.479000	0.25925	0.910000	0.35882	0.146000	0.21551	1.510000	0.35790	2.044000	0.60594	0.459000	0.35465	GAC		0.493	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			C	110833715	T	C	110833715	3	2	713	1	0	0	0	0	1	0	0	0	3691	1667	58	3	2988	3	COL4A1	13	110833715	Missense_Mutation	SNP	T	TCGA-KL-8344-01A-11D-2310-10	37513598	110833715	4336163	48	39936											
OR11H12	440153	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	14	19377804	19377804	+	Missense_Mutation	SNP	C	C	A			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr14:19377804C>A	ENST00000550708.1	+	1	283	c.211C>A	c.(211-213)Cac>Aac	p.H71N		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	71						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)		CTGGCGACTTCACACTCCCAT	0.418																																																0													96	106	103					14																	19377804		1966	4090	6056	SO:0001583	missense	440153				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.211C>A	14.37:g.19377804C>A	ENSP00000449002:p.His71Asn			Missense_Mutation	SNP	ENST00000550708.1	37	CCDS32017.1	.	.	.	.	.	.	.	.	.	.	c	10.91	1.484578	0.26598	.	.	ENSG00000257115	ENST00000550708	T	0.15952	2.38	0.585	0.585	0.17428	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44285	D	0.000480	T	0.40322	0.1112	M	0.88775	2.98	0.22620	N	0.998921	D	0.76494	0.999	D	0.74023	0.982	T	0.54118	-0.8341	9	0.72032	D	0.01	.	7.1009	0.25336	0.0:0.9999:0.0:1.0E-4	.	71	B2RN74	O11HC_HUMAN	N	71	ENSP00000449002:H71N	ENSP00000449002:H71N	H	+	1	0	CR383656.1	18447804	0.637000	0.27216	0.160000	0.22671	0.093000	0.18481	1.738000	0.38207	0.619000	0.30197	0.064000	0.15345	CAC		0.418	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408402.1	NM_001013354		A	19377804	C	A	19377804	3	1	713	1	0	0	0	0	1	0	0	0	10929	826	29	4	213	4	OR11H12	14	19377804	Missense_Mutation	SNP	C	TCGA-KL-8344-01A-11D-2310-10		19377804	87971736	49	39937											
DICER1	23405	hgsc.bcm.edu;ucsc.edu	37	14	95579561	95579561	+	Splice_Site	SNP	T	T	C			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr14:95579561T>C	ENST00000526495.1	-	14	2199	c.1908A>G	c.(1906-1908)agA>agG	p.R636R	DICER1_ENST00000527414.1_Splice_Site_p.R636R|DICER1_ENST00000393063.1_Splice_Site_p.R636R|DICER1_ENST00000343455.3_Splice_Site_p.R636R|DICER1_ENST00000541352.1_Splice_Site_p.R636R			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	636	Dicer dsRNA-binding fold. {ECO:0000255|PROSITE-ProRule:PRU00657}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TAGCACAGTATCTGTGAAGAA	0.383			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"dicer 1, ribonuclease type III "		"E, M, O"	0													79	80	80					14																	95579561		2203	4300	6503	SO:0001630	splice_region_variant	23405	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"dicer 1, double-stranded RNA-specific endoribonuclease"	606241	"Dicer1, Dcr-1 homolog (Drosophila)", "multinodular goitre 1"	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.1908-1A>G	14.37:g.95579561T>C			A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Silent	SNP	ENST00000526495.1	37	CCDS9931.1																																																																																				0.383	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1		Silent	C	95579561	T	C	95579561	5	2	713	1	0	0	0	0	0	0	1	0	4523	1449	50	3	3924	3	DICER1	14	95579561	Splice_Site	SNP	T	TCGA-KL-8344-01A-11D-2310-10	76201757	95579561	11769979	50	39938											
MGA	23269	broad.mit.edu;ucsc.edu;mdanderson.org	37	15	42034895	42034895	+	Silent	SNP	A	A	G			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr15:42034895A>G	ENST00000570161.1	+	14	4737	c.4737A>G	c.(4735-4737)acA>acG	p.T1579T	MGA_ENST00000389936.4_Silent_p.T1579T|MGA_ENST00000566586.1_Intron|MGA_ENST00000219905.7_Silent_p.T1579T|MGA_ENST00000545763.1_Intron			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)	TGGTCGTCACACCTGTGGTTT	0.502																																																0													71	73	72					15																	42034895		1986	4165	6151	SO:0001819	synonymous_variant	23269			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"MAX dimerization proteins", "T-boxes"	14010	protein-coding gene	gene with protein product			"MAX gene associated"				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.4737A>G	15.37:g.42034895A>G			Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000570161.1	37	CCDS55959.1																																																																																				0.502	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		G	42034895	A	G	42034895	2	3	713	1	0	0	0	0	0	0	0	1	9542	146	6	3		3	MGA	15	42034895	Silent	SNP	A	TCGA-KL-8344-01A-11D-2310-10		42034895	60496497	51	39939											
FBN1	2200	broad.mit.edu	37	15	48812976	48812976	+	Missense_Mutation	SNP	C	C	T	rs146726731		TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr15:48812976C>T	ENST00000316623.5	-	10	1482	c.1027G>A	c.(1027-1029)Ggg>Agg	p.G343R		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	343	TB 2.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GAGCAGCGCCCGTTTGTCAGA	0.517													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19045	0.0		0.0	False		,,,				2504	0.0															0			GRCh37	CM067393	FBN1	M	rs146726731	C	ARG/GLY	0,4394		0,0,2197	77	67	70		1027	5.7	0.9	15	dbSNP_134	70	2,8590	2.2+/-6.3	0,2,4294	yes	missense	FBN1	NM_000138.4	125	0,2,6491	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging	343/2872	48812976	2,12984	2197	4296	6493	SO:0001583	missense	2200			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"Marfan syndrome"	134797	"fibrillin 1 (Marfan syndrome)"	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.1027G>A	15.37:g.48812976C>T	ENSP00000325527:p.Gly343Arg		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	CCDS32232.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	35	5.444036	0.96187	0.0	2.33E-4	ENSG00000166147	ENST00000316623	D	0.93426	-3.22	5.65	5.65	0.86999	Matrix fibril-associated (3);TGF-beta binding (1);	0.000000	0.85682	D	0.000000	D	0.96895	0.8986	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96255	0.9186	10	0.52906	T	0.07	.	19.9142	0.97043	0.0:1.0:0.0:0.0	.	343	P35555	FBN1_HUMAN	R	343	ENSP00000325527:G343R	ENSP00000325527:G343R	G	-	1	0	FBN1	46600268	1.000000	0.71417	0.922000	0.36590	0.921000	0.55340	7.639000	0.83342	2.941000	0.99782	0.655000	0.94253	GGG		0.517	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			T	48812976	C	T	48812976	3	4	713	1	0	0	0	0	1	0	0	0	5704	652	23	1	7816	1	FBN1	15	48812976	Missense_Mutation	SNP	C	TCGA-KL-8344-01A-11D-2310-10	6778081	48812976	53718416	52	39940											
PDPR	55066	broad.mit.edu;mdanderson.org	37	16	70161181	70161181	+	Silent	SNP	C	C	T			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr16:70161181C>T	ENST00000288050.4	+	4	1203	c.246C>T	c.(244-246)acC>acT	p.T82T	PDPR_ENST00000398122.3_5'UTR|PDPR_ENST00000568530.1_Silent_p.T82T	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	82					cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		CTGGCTCTACCAGGTTCTGTG	0.463																																																0													35	32	33					16																	70161181		1826	4064	5890	SO:0001819	synonymous_variant	55066				CCDS45520.1	16q22.1	2010-08-24			ENSG00000090857	ENSG00000090857			30264	protein-coding gene	gene with protein product						9395502	Standard	NM_017990		Approved	PDP3	uc002eyf.1	Q8NCN5		ENST00000288050.4:c.246C>T	16.37:g.70161181C>T			A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Silent	SNP	ENST00000288050.4	37	CCDS45520.1																																																																																				0.463	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434502.1	NM_017990		T	70161181	C	T	70161181	2	4	713	1	0	0	0	0	0	0	0	1	11691	581	21	2		2	PDPR	16	70161181	Silent	SNP	C	TCGA-KL-8344-01A-11D-2310-10		70161181	20193572	53	39941											
KIAA0174	9798	ucsc.edu;mdanderson.org	37	16	71956529	71956529	+	Silent	SNP	C	C	T	rs28701631	byFrequency	TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr16:71956529C>T	ENST00000378799.6	+	7	1061	c.705C>T	c.(703-705)ccC>ccT	p.P235P	IST1_ENST00000541571.2_Silent_p.P235P|RP11-498D10.5_ENST00000567146.1_RNA|IST1_ENST00000538850.1_Silent_p.P87P|IST1_ENST00000378798.5_Silent_p.P235P|IST1_ENST00000606369.1_Silent_p.P87P|IST1_ENST00000538565.1_3'UTR|IST1_ENST00000329908.8_Silent_p.P235P|IST1_ENST00000544564.1_Silent_p.P235P|IST1_ENST00000535424.1_Silent_p.P248P			P53990	IST1_HUMAN	increased sodium tolerance 1 homolog (yeast)	233	Interaction with VPS37B.|Interaction with VTA1.				abscission (GO:0009838)|cell division (GO:0051301)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of proteolysis (GO:0045862)|protein localization (GO:0008104)|viral capsid secondary envelopment (GO:0046745)|viral release from host cell (GO:0019076)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Flemming body (GO:0090543)|midbody (GO:0030496)	MIT domain binding (GO:0090541)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)										tgcccatgcccatgcctatgc	0.483													C|||	230	0.0459265	0.0197	0.0274	5008	,	,		18639	0.0258		0.0427	False		,,,				2504	0.1186															0													101	73	83					16																	71956529		2198	4300	6498	SO:0001819	synonymous_variant	9798			BC004359	CCDS10905.1, CCDS59271.1, CCDS59272.1, CCDS59273.1, CCDS59274.1	16q22.2	2011-08-18	2011-08-18	2011-08-18	ENSG00000182149	ENSG00000182149			28977	protein-coding gene	gene with protein product			"KIAA0174"	KIAA0174		8724849, 19129480	Standard	NM_001270975		Approved		uc002fbm.2	P53990	OTTHUMG00000137597	ENST00000378799.6:c.705C>T	16.37:g.71956529C>T			A8KAH5|J3QLU7|Q3SYM4|Q9BQ81|Q9BWN2	Silent	SNP	ENST00000378799.6	37	CCDS59272.1	58	0.026556776556776556	9	0.018292682926829267	10	0.027624309392265192	25	0.043706293706293704	14	0.018469656992084433	C	6.629	0.484439	0.12641	.	.	ENSG00000182149	ENST00000541848	.	.	.	.	.	.	.	0.095345	0.85682	D	0.000000	T	0.22551	0.0544	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.12967	-1.0527	4	0.26408	T	0.33	-5.2082	.	.	.	rs28701631	.	.	.	L	122	.	ENSP00000437499:P122L	P	+	2	0	KIAA0174	70514030	0.004000	0.15560	0.997000	0.53966	0.971000	0.66376	-3.311000	0.00517	0.361000	0.24292	0.366000	0.22137	CCA		0.483	IST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269005.2	NM_014761		T	71956529	C	T	71956529	2	4	713	1	0	0	0	0	0	0	0	1	8160	581	21	2		2	KIAA0174	16	71956529	Silent	SNP	C	TCGA-KL-8344-01A-11D-2310-10	1795348	71956529	18398224	54	39942											
WDR59	79726	ucsc.edu	37	16	74942865	74942865	+	Silent	SNP	T	T	C	rs141093453	byFrequency	TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr16:74942865T>C	ENST00000262144.6	-	17	1783	c.1653A>G	c.(1651-1653)gtA>gtG	p.V551V		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	551										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						TTGTGAAATATACCAGGTAAC	0.547																																																0													90	79	83					16																	74942865		2198	4300	6498	SO:0001819	synonymous_variant	79726			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.1653A>G	16.37:g.74942865T>C			B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43	Silent	SNP	ENST00000262144.6	37	CCDS32488.1																																																																																				0.547	WDR59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410601.3	NM_030581		C	74942865	T	C	74942865	2	2	713	1	0	0	0	0	0	0	0	1	17313	1393	49	3		3	WDR59	16	74942865	Silent	SNP	T	TCGA-KL-8344-01A-11D-2310-10	2986336	74942865	15411888	55	39943											
TTC19	54902	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	17	15930770	15930770	+	Silent	SNP	C	C	T			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr17:15930770C>T	ENST00000261647.5	+	10	1546	c.1077C>T	c.(1075-1077)caC>caT	p.H359H	TTC19_ENST00000497842.2_3'UTR|TTC19_ENST00000486880.2_Silent_p.H480H	NM_001271420.1|NM_017775.3	NP_001258349.1|NP_060245.3	Q6DKK2	TTC19_HUMAN	tetratricopeptide repeat domain 19	359					cytokinesis (GO:0000910)|mitochondrial respiratory chain complex III assembly (GO:0034551)	centrosome (GO:0005813)|midbody (GO:0030496)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				central_nervous_system(1)|lung(2)|skin(1)|stomach(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CTGTACAACACATCAGGGAAG	0.378																																																0													116	106	109					17																	15930770		2203	4300	6503	SO:0001819	synonymous_variant	54902			AK094819	CCDS11174.1, CCDS11174.2	17p11.2	2013-01-11			ENSG00000011295	ENSG00000011295		"Tetratricopeptide (TTC) repeat domain containing"	26006	protein-coding gene	gene with protein product		613814					Standard	NM_017775		Approved	FLJ20343, MGC19520	uc002gph.3	Q6DKK2	OTTHUMG00000059306	ENST00000261647.5:c.1077C>T	17.37:g.15930770C>T			A8MZ52|B3KP62|B4DN65|Q2M248|Q7L3U8|Q9H6G3|Q9NXB2	Silent	SNP	ENST00000261647.5	37	CCDS11174.2																																																																																				0.378	TTC19-001	NOVEL	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000131725.6	NM_017775		T	15930770	C	T	15930770	2	4	713	1	0	0	0	0	0	0	0	1	16691	477	17	2		2	TTC19	17	15930770	Silent	SNP	C	TCGA-KL-8344-01A-11D-2310-10		15930770	65264440	56	39944											
GGNBP2	79893	broad.mit.edu	37	17	34942391	34942391	+	Silent	SNP	A	A	G			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr17:34942391A>G	ENST00000304718.4	+	11	1804	c.1488A>G	c.(1486-1488)gaA>gaG	p.E496E		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	496					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)		p.E496E(1)		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)		ATCATGATGAACACGGTAGGC	0.413																																																1	Substitution - coding silent(1)	endometrium(1)											172	175	174					17																	34942391		2203	4300	6503	SO:0001819	synonymous_variant	79893			AF126964	CCDS11314.1	17q21.1	2014-05-06	2007-08-20	2007-08-20	ENSG00000005955	ENSG00000278311			19357	protein-coding gene	gene with protein product		612275	"zinc finger protein 403"	ZNF403		11728448	Standard	NM_024835		Approved	ZFP403, LZK1, FLJ22561, FLJ21230, DIF-3, DIF3	uc002hnb.3	Q9H3C7	OTTHUMG00000188440	ENST00000304718.4:c.1488A>G	17.37:g.34942391A>G			B2RPK7|Q96T90|Q9GZR8|Q9H767	Silent	SNP	ENST00000304718.4	37	CCDS11314.1																																																																																				0.413	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256684.2	NM_024835		G	34942391	A	G	34942391	2	3	713	1	0	0	0	0	0	0	0	1	6361	40	2	3		3	GGNBP2	17	34942391	Silent	SNP	A	TCGA-KL-8344-01A-11D-2310-10	19011621	34942391	46252819	57	39945											
SYT4	6860	hgsc.bcm.edu;ucsc.edu	37	18	40850387	40850387	+	Silent	SNP	T	T	C			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr18:40850387T>C	ENST00000255224.3	-	4	1565	c.1197A>G	c.(1195-1197)ggA>ggG	p.G399G	SYT4_ENST00000586678.1_5'UTR|SYT4_ENST00000590752.1_Silent_p.G381G	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	399					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						CTCCACCAGTTCCTTCTGCTG	0.493																																					NSCLC(85;81 1419 2855 22820 35912)											0													156	155	156					18																	40850387		2203	4300	6503	SO:0001819	synonymous_variant	6860			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.1197A>G	18.37:g.40850387T>C			B4DEU3|Q9P2K4	Silent	SNP	ENST00000255224.3	37	CCDS11922.1																																																																																				0.493	SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255851.2	NM_020783		C	40850387	T	C	40850387	2	2	713	1	0	0	0	0	0	0	0	1	15481	1770	62	3		3	SYT4	18	40850387	Silent	SNP	T	TCGA-KL-8344-01A-11D-2310-10		40850387	37226861	58	39946											
ZNF98	148198	mdanderson.org	37	19	22575313	22575313	+	Missense_Mutation	SNP	C	C	G			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr19:22575313C>G	ENST00000357774.5	-	4	845	c.724G>C	c.(724-726)Gag>Cag	p.E242Q		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	242					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)				TTTCCACACTCTTCGCATTTG	0.393																																																0													7	8	8					19																	22575313		1692	3884	5576	SO:0001583	missense	148198				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.724G>C	19.37:g.22575313C>G	ENSP00000350418:p.Glu242Gln			Missense_Mutation	SNP	ENST00000357774.5	37	CCDS46031.1	.	.	.	.	.	.	.	.	.	.	.	1.943	-0.443228	0.04604	.	.	ENSG00000197360	ENST00000357774	T	0.36157	1.27	1.41	-2.82	0.05787	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22859	0.0552	N	0.20610	0.595	0.09310	N	1	B	0.29671	0.254	B	0.34991	0.193	T	0.20605	-1.0270	9	0.45353	T	0.12	.	7.4838	0.27421	0.0:0.4744:0.3911:0.1345	.	242	A6NK75	ZNF98_HUMAN	Q	242	ENSP00000350418:E242Q	ENSP00000350418:E242Q	E	-	1	0	ZNF98	22367153	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.654000	0.01984	-2.230000	0.00719	-1.816000	0.00601	GAG		0.393	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464398.1	NM_001098626		G	22575313	C	G	22575313	3	3	713	1	0	0	0	0	1	0	0	0	18208	922	32	4	998	4	ZNF98	19	22575313	Missense_Mutation	SNP	C	TCGA-KL-8344-01A-11D-2310-10		22575313	36553670	59	39947											
ZNF98	148198	broad.mit.edu;mdanderson.org	37	19	22575373	22575373	+	Missense_Mutation	SNP	C	C	T	rs201074450		TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr19:22575373C>T	ENST00000357774.5	-	4	785	c.664G>A	c.(664-666)Gcc>Acc	p.A222T		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	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)			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)				AGGTTTGAGGCCTCATTATAG	0.383																																																0													12	13	13					19																	22575373		1871	4124	5995	SO:0001583	missense	148198				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.664G>A	19.37:g.22575373C>T	ENSP00000350418:p.Ala222Thr			Missense_Mutation	SNP	ENST00000357774.5	37	CCDS46031.1	.	.	.	.	.	.	.	.	.	.	.	4.784	0.145770	0.09134	.	.	ENSG00000197360	ENST00000357774	T	0.33654	1.4	1.28	-1.83	0.07833	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18002	0.0432	N	0.17674	0.51	0.09310	N	1	B	0.22541	0.071	B	0.25987	0.065	T	0.27262	-1.0079	9	0.39692	T	0.17	.	0.0814	0.00032	0.2369:0.2268:0.2367:0.2996	.	222	A6NK75	ZNF98_HUMAN	T	222	ENSP00000350418:A222T	ENSP00000350418:A222T	A	-	1	0	ZNF98	22367213	0.000000	0.05858	0.001000	0.08648	0.138000	0.21146	-0.793000	0.04589	-0.223000	0.09943	0.305000	0.20034	GCC		0.383	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464398.1	NM_001098626		T	22575373	C	T	22575373	3	4	713	1	0	0	0	0	1	0	0	0	18208	739	26	2	1058	2	ZNF98	19	22575373	Missense_Mutation	SNP	C	TCGA-KL-8344-01A-11D-2310-10	60	22575373	36553610	60	39948											
FBXO17	115290	broad.mit.edu	37	19	39440795	39440795	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr19:39440795delC	ENST00000292852.4	-	2	506	c.165delG	c.(163-165)gggfs	p.G55fs	FBXO17_ENST00000595329.1_Frame_Shift_Del_p.G55fs|SARS2_ENST00000448145.2_5'Flank|CTC-360G5.8_ENST00000599996.1_5'Flank	NM_024907.5	NP_079183.4	Q96EF6	FBX17_HUMAN	F-box protein 17	55	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.					SCF ubiquitin ligase complex (GO:0019005)	glycoprotein binding (GO:0001948)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	7	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)			ACACAGTGGGCCCGTCCACTA	0.711																																																0													7	6	6					19																	39440795		2045	4039	6084	SO:0001589	frameshift_variant	115290			AF386743	CCDS12526.1	19q13.2	2010-07-02	2004-06-15	2004-06-16		ENSG00000269190		"F-boxes /  "other""	18754	protein-coding gene	gene with protein product	"F-box only protein 26"	609094	"F-box only protein 17"	FBXO26			Standard	NM_148169		Approved	FBG4, FLJ25205, MGC9379, FLJ11798, Fbx17		Q96EF6		ENST00000292852.4:c.165delG	19.37:g.39440795delC	ENSP00000292852:p.Gly55fs		Q96LQ4	Frame_Shift_Del	DEL	ENST00000292852.4	37	CCDS12526.1																																																																																				0.711	FBXO17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463273.1	NM_024907		-	39440795	C	-	39440795	7	5	713	1	0	1	0	1	0	0	0	0	5732	726	26	0	691	0	FBXO17	19	39440795	Frame_Shift_Del	DEL	C	TCGA-KL-8344-01A-11D-2310-10	16865422	39440795	19688188	61	39949											
NOSIP	51070	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	19	50059875	50059875	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr19:50059875T>C	ENST00000596358.1	-	7	714	c.656A>G	c.(655-657)gAg>gGg	p.E219G	NOSIP_ENST00000339093.3_Missense_Mutation_p.E222G|NOSIP_ENST00000391853.3_Missense_Mutation_p.E219G	NM_001270960.1	NP_001257889.1	Q9Y314	NOSIP_HUMAN	nitric oxide synthase interacting protein	219					negative regulation of catalytic activity (GO:0043086)|negative regulation of nitric-oxide synthase activity (GO:0051001)|nitric oxide metabolic process (GO:0046209)|regulation of nitric-oxide synthase activity (GO:0050999)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1)	11		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;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)		CACGTAGCGCTCGCTGCGGGT	0.692																																																0													35	31	33					19																	50059875		2203	4299	6502	SO:0001583	missense	51070			AF132959	CCDS12772.1	19q13.3	2008-02-05				ENSG00000142546			17946	protein-coding gene	gene with protein product						11149895, 10810093	Standard	NM_015953		Approved	CGI-25	uc002pol.4	Q9Y314		ENST00000596358.1:c.656A>G	19.37:g.50059875T>C	ENSP00000470034:p.Glu219Gly		Q96FD2	Missense_Mutation	SNP	ENST00000596358.1	37	CCDS12772.1	.	.	.	.	.	.	.	.	.	.	T	17.20	3.328939	0.60743	.	.	ENSG00000142546	ENST00000339093;ENST00000391853	T	0.76186	-1.0	4.62	4.62	0.57501	.	0.054667	0.64402	D	0.000001	T	0.51736	0.1692	N	0.03268	-0.37	0.53688	D	0.999972	P	0.47545	0.897	B	0.42214	0.38	T	0.55315	-0.8160	10	0.21540	T	0.41	-51.4282	13.146	0.59461	0.0:0.0:0.0:1.0	.	219	Q9Y314	NOSIP_HUMAN	G	219	ENSP00000375726:E219G	ENSP00000343497:E219G	E	-	2	0	NOSIP	54751687	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.677000	0.74503	1.951000	0.56629	0.379000	0.24179	GAG		0.692	NOSIP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465423.1			C	50059875	T	C	50059875	3	2	713	1	0	0	0	0	1	0	0	0	10547	1551	54	3	261	3	NOSIP	19	50059875	Missense_Mutation	SNP	T	TCGA-KL-8344-01A-11D-2310-10	10619080	50059875	9069108	62	39950											
ZNF814	730051	bcgsc.ca	37	19	58385788	58385788	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr19:58385788A>G	ENST00000435989.2	-	3	1204	c.970T>C	c.(970-972)Tat>Cat	p.Y324H	ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	324					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						CCACATTCATAAGGTCTTTTC	0.358																																																0													15	12	13					19																	58385788		688	1564	2252	SO:0001583	missense	730051				CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.970T>C	19.37:g.58385788A>G	ENSP00000410545:p.Tyr324His		A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	8.644	0.896732	0.17686	.	.	ENSG00000204514	ENST00000435989	T	0.21734	1.99	2.27	-1.27	0.09347	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13970	0.0338	L	0.33485	1.01	0.09310	N	1	B	0.27498	0.18	B	0.22386	0.039	T	0.24368	-1.0162	9	0.72032	D	0.01	.	7.1587	0.25652	0.6135:0.0:0.3865:0.0	.	324	B7Z6K7	ZN814_HUMAN	H	324	ENSP00000410545:Y324H	ENSP00000410545:Y324H	Y	-	1	0	ZNF814	63077600	0.000000	0.05858	0.008000	0.14137	0.034000	0.12701	0.130000	0.15850	-0.181000	0.10619	0.113000	0.15668	TAT		0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		G	58385788	A	G	58385788	3	3	713	1	0	0	0	0	1	0	0	0	18181	362	13	3	1601	3	ZNF814	19	58385788	Missense_Mutation	SNP	A	TCGA-KL-8344-01A-11D-2310-10	8325913	58385788	743195	63	39951											
TFAP2C	7022	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	20	55208518	55208518	+	Silent	SNP	G	G	A	rs146916115	byFrequency	TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr20:55208518G>A	ENST00000201031.2	+	4	939	c.696G>A	c.(694-696)tcG>tcA	p.S232S	TFAP2C_ENST00000544508.1_Silent_p.S63S	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	232					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)			GAAGATTGTCGCTCCTCAGCT	0.537													G|||	3	0.000599042	0.0015	0.0014	5008	,	,		16452	0.0		0.0	False		,,,				2504	0.0															0								G		9,4397	15.5+/-35.6	0,9,2194	102	85	91		696	-1.4	1	20	dbSNP_134	91	0,8600		0,0,4300	no	coding-synonymous	TFAP2C	NM_003222.3		0,9,6494	AA,AG,GG		0.0,0.2043,0.0692		232/451	55208518	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	7022				CCDS13454.1	20q13.2	2008-07-17	2001-11-28		ENSG00000087510	ENSG00000087510			11744	protein-coding gene	gene with protein product	"estrogen receptor factor 1"	601602	"transcription factor AP-2 gamma (activating enhancer-binding protein 2 gamma)"			8661133	Standard	NM_003222		Approved	AP2-GAMMA, ERF1, TFAP2G, hAP-2g	uc002xya.3	Q92754	OTTHUMG00000032805	ENST00000201031.2:c.696G>A	20.37:g.55208518G>A			B4DWK3|O00685|O00730|Q86V30|Q8IVB6|Q9P1X2	Silent	SNP	ENST00000201031.2	37	CCDS13454.1																																																																																				0.537	TFAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079823.2	NM_003222		A	55208518	G	A	55208518	2	1	713	1	0	0	0	0	0	0	0	1	15794	1074	38	1		1	TFAP2C	20	55208518	Silent	SNP	G	TCGA-KL-8344-01A-11D-2310-10		55208518	7817002	64	39952											
FAM118A	55007	mdanderson.org	37	22	45723898	45723898	+	Missense_Mutation	SNP	G	G	A	rs62001863	byFrequency	TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr22:45723898G>A	ENST00000216214.3	+	5	1310	c.476G>A	c.(475-477)cGg>cAg	p.R159Q	FAM118A_ENST00000405673.1_Missense_Mutation_p.R159Q|FAM118A_ENST00000441876.2_Missense_Mutation_p.R159Q|FAM118A_ENST00000405548.3_5'Flank	NM_001104595.1	NP_001098065.1	Q9NWS6	F118A_HUMAN	family with sequence similarity 118, member A	159						integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		TTTGGCCGGCGGCAGAACAAG	0.627																																																0													21	19	20					22																	45723898		2203	4300	6503	SO:0001583	missense	55007			BC013696	CCDS14065.1	22q13.3	2006-04-26	2006-04-26	2006-04-26	ENSG00000100376	ENSG00000100376			1313	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 8"	C22orf8		12477932	Standard	NM_001104595		Approved	FLJ20635, bK268H5.C22.4	uc003bga.4	Q9NWS6	OTTHUMG00000151338	ENST00000216214.3:c.476G>A	22.37:g.45723898G>A	ENSP00000216214:p.Arg159Gln		B3KWG4|B4DY02|Q5TII5|Q96CY3	Missense_Mutation	SNP	ENST00000216214.3	37	CCDS14065.1	32	0.014652014652014652	0	0.0	8	0.022099447513812154	4	0.006993006993006993	20	0.026385224274406333	A	2.466	-0.322915	0.05350	.	.	ENSG00000100376	ENST00000216214;ENST00000441876;ENST00000405673	T;T;T	0.39997	1.05;1.05;1.06	5.03	2.76	0.32466	.	0.061927	0.64402	N	0.000004	T	0.05686	0.0149	N	0.04959	-0.14	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.07790	-1.0754	10	0.09338	T	0.73	-1.1554	6.502	0.22174	0.7238:0.1301:0.1461:0.0	rs62001863	159	Q9NWS6	F118A_HUMAN	Q	159	ENSP00000216214:R159Q;ENSP00000395892:R159Q;ENSP00000385231:R159Q	ENSP00000216214:R159Q	R	+	2	0	FAM118A	44102562	1.000000	0.71417	0.991000	0.47740	0.252000	0.25951	5.600000	0.67599	0.241000	0.21283	-0.524000	0.04348	CGG		0.627	FAM118A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322260.1	NM_017911		A	45723898	G	A	45723898	3	1	713	1	0	0	0	0	1	0	0	0	5413	1116	39	1	486	1	FAM118A	22	45723898	Missense_Mutation	SNP	G	TCGA-KL-8344-01A-11D-2310-10		45723898	5580668	65	39953											
AR	367	hgsc.bcm.edu	37	X	66765207	66765208	+	Missense_Mutation	DNP	GC	GC	AG			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	GC	GC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chrX:66765207_66765208GC>AG	ENST00000374690.3	+	1	743_744	c.219_220GC>AG	c.(217-222)caGCag>caAGag	p.Q74E	AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Missense_Mutation_p.Q74E|AR_ENST00000504326.1_Missense_Mutation_p.Q74E	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	74	Gln-rich.|Modulating.|Poly-Gln.		Missing.		androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	agcagcagcagcagcagcagca	0.668									Androgen Insensitivity Syndrome																																							0																																										SO:0001583	missense	367	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"Nuclear hormone receptors"	644	protein-coding gene	gene with protein product	"testicular feminization", "Kennedy disease"	313700	"dihydrotestosterone receptor", "spinal and bulbar muscular atrophy"	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	Exception_encountered	X.37:g.66765207_66765208delinsAG	ENSP00000363822:p.Gln74Glu		A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	DNP	ENST00000374690.3	37	CCDS14387.1																																																																																				0.668	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		AG	66765208	GC	AG	66765207	3	1	713	1	0	0	0	0	1	0	0	0	836	962	34	2	221	2	AR	23	66765207	Missense_Mutation	DNP	GC	TCGA-KL-8344-01A-11D-2310-10		66765207	88505353	66	39954											
KIAA2013	90231	mdanderson.org	37	1	11985396	11985396	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr1:11985396A>G	ENST00000376572.3	-	1	1084	c.899T>C	c.(898-900)cTc>cCc	p.L300P	KIAA2013_ENST00000376576.3_Missense_Mutation_p.L300P	NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN	KIAA2013	300						integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		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)		TTTGCTTTTGAGCACCTGGGG	0.597																																																0													63	62	62					1																	11985396		2203	4300	6503	SO:0001583	missense	90231			AB095933	CCDS141.1	1p36.22	2011-02-09			ENSG00000116685	ENSG00000116685			28513	protein-coding gene	gene with protein product						12477932	Standard	NM_138346		Approved	MGC33867, RP5-1077B9.1	uc001atk.3	Q8IYS2	OTTHUMG00000002391	ENST00000376572.3:c.899T>C	1.37:g.11985396A>G	ENSP00000365756:p.Leu300Pro		Q5JXC1|Q8IVF8|Q8NDI7|Q9BSY1	Missense_Mutation	SNP	ENST00000376572.3	37	CCDS141.1	.	.	.	.	.	.	.	.	.	.	A	11.11	1.542851	0.27563	.	.	ENSG00000116685	ENST00000376572;ENST00000376576	.	.	.	3.9	3.9	0.45041	.	0.451826	0.20244	N	0.096238	T	0.53706	0.1813	L	0.40543	1.245	0.54753	D	0.999987	D;D	0.69078	0.997;0.97	P;P	0.62382	0.901;0.859	T	0.50110	-0.8866	9	0.27082	T	0.32	-7.7378	5.53	0.16978	0.8693:0.0:0.1307:0.0	.	300;300	Q8IYS2-2;Q8IYS2	.;K2013_HUMAN	P	300	.	ENSP00000365756:L300P	L	-	2	0	KIAA2013	11907983	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	3.737000	0.55060	1.767000	0.52121	0.421000	0.28195	CTC		0.597	KIAA2013-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006858.1	NM_138346		G	11985396	A	G	11985396	3	3	714	1	0	0	0	0	1	0	0	0	8269	304	11	3	1017	3	KIAA2013	1	11985396	Missense_Mutation	SNP	A	TCGA-KL-8345-01A-11D-2310-10		11985396	237265225	1	39955											
KIF2C	11004	ucsc.edu	37	1	45228320	45228320	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr1:45228320A>G	ENST00000372224.4	+	19	2074	c.1961A>G	c.(1960-1962)gAg>gGg	p.E654G	RP11-269F19.2_ENST00000440985.1_RNA|KIF2C_ENST00000372222.3_Missense_Mutation_p.E541G|RP11-269F19.2_ENST00000428791.1_RNA|KIF2C_ENST00000372218.4_Missense_Mutation_p.E613G|KIF2C_ENST00000372217.1_Missense_Mutation_p.E600G	NM_006845.3	NP_006836.2	Q99661	KIF2C_HUMAN	kinesin family member 2C	654					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)					GAGCTCAAGGAGATCATACAG	0.552																																																0													101	86	91					1																	45228320		2203	4300	6503	SO:0001583	missense	11004			U63743	CCDS512.1, CCDS72774.1	1p34.1	2014-01-21	2003-01-13	2003-01-17	ENSG00000142945	ENSG00000142945		"Kinesins"	6393	protein-coding gene	gene with protein product		604538	"kinesin-like 6 (mitotic centromere-associated kinesin)"	KNSL6		9434124	Standard	NM_006845		Approved	MCAK, CT139	uc001cmg.4	Q99661	OTTHUMG00000008416	ENST00000372224.4:c.1961A>G	1.37:g.45228320A>G	ENSP00000361298:p.Glu654Gly		B3ITR9|Q5JR88|Q6ICU1|Q96C18|Q96HB8|Q9BWV8	Missense_Mutation	SNP	ENST00000372224.4	37	CCDS512.1	.	.	.	.	.	.	.	.	.	.	A	14.62	2.589719	0.46214	.	.	ENSG00000142945	ENST00000372224;ENST00000372218;ENST00000372222;ENST00000372217	T;T;T;T	0.75938	-0.96;-0.78;-0.97;-0.98	5.95	4.8	0.61643	.	0.237765	0.41097	D	0.000955	T	0.55449	0.1921	N	0.08118	0	0.46678	D	0.999159	B;B;B	0.20550	0.046;0.002;0.001	B;B;B	0.20184	0.028;0.003;0.001	T	0.49021	-0.8982	10	0.32370	T	0.25	.	13.2066	0.59800	0.867:0.133:0.0:0.0	.	613;600;654	B7Z6Q6;Q99661-2;Q99661	.;.;KIF2C_HUMAN	G	654;613;541;600	ENSP00000361298:E654G;ENSP00000361292:E613G;ENSP00000361296:E541G;ENSP00000361291:E600G	ENSP00000361291:E600G	E	+	2	0	KIF2C	45000907	1.000000	0.71417	0.985000	0.45067	0.975000	0.68041	4.272000	0.58908	1.043000	0.40175	0.533000	0.62120	GAG		0.552	KIF2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023180.1	NM_006845		G	45228320	A	G	45228320	3	3	714	1	0	0	0	0	1	0	0	0	8301	304	11	3	2035	3	KIF2C	1	45228320	Missense_Mutation	SNP	A	TCGA-KL-8345-01A-11D-2310-10	33242924	45228320	204022301	2	39956											
AGBL4	84871	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	49100247	49100247	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr1:49100247C>T	ENST00000371839.1	-	9	985	c.869G>A	c.(868-870)cGt>cAt	p.R290H	AGBL4_ENST00000334103.7_Missense_Mutation_p.R23H|AGBL4_ENST00000371838.1_Missense_Mutation_p.R290H	NM_032785.3	NP_116174.3	Q5VU57	CBPC6_HUMAN	ATP/GTP binding protein-like 4	290					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15				Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037)		CAGCCAGTGACGATTCAGATC	0.468																																																0													85	87	86					1																	49100247		1975	4155	6130	SO:0001583	missense	84871			AK027348	CCDS44137.1	1p33	2014-06-23			ENSG00000186094	ENSG00000186094			25892	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 6"					21074048	Standard	NM_032785		Approved	FLJ14442, CCP6	uc001cru.2	Q5VU57	OTTHUMG00000007793	ENST00000371839.1:c.869G>A	1.37:g.49100247C>T	ENSP00000360905:p.Arg290His		B3KT26|B4DG37	Missense_Mutation	SNP	ENST00000371839.1	37	CCDS44137.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.194569|5.194569	0.94960|0.94960	.|.	.|.	ENSG00000186094|ENSG00000186094	ENST00000371839;ENST00000411952;ENST00000334103;ENST00000371838|ENST00000416121	T;T;T|.	0.24151|.	1.87;1.87;1.87|.	5.6|5.6	5.6|5.6	0.85130|0.85130	Peptidase M14, carboxypeptidase A (1);|.	0.193068|.	0.56097|.	D|.	0.000029|.	D|D	0.86062|0.86062	0.5843|0.5843	M|M	0.92649|0.92649	3.33|3.33	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.91635|.	0.978;0.953;0.988;0.998;0.999|.	D|D	0.89102|0.89102	0.3490|0.3490	9|5	.|.	.|.	.|.	-18.2076|-18.2076	17.0797|17.0797	0.86595|0.86595	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	105;302;23;135;290|.	A0AVJ2;Q5VU57-2;B4DGK1;B1AMW2;Q5VU57|.	.;.;.;.;CBPC6_HUMAN|.	H|I	290;284;23;290|136	ENSP00000360905:R290H;ENSP00000335516:R23H;ENSP00000360904:R290H|.	.|.	R|V	-|-	2|1	0|0	AGBL4|AGBL4	48872834|48872834	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.994000|0.994000	0.84299|0.84299	6.832000|6.832000	0.75329|0.75329	2.636000|2.636000	0.89361|0.89361	0.462000|0.462000	0.41574|0.41574	CGT|GTC		0.468	AGBL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021346.4	NM_032785		T	49100247	C	T	49100247	3	4	714	1	0	0	0	0	1	0	0	0	377	536	19	1	666	1	AGBL4	1	49100247	Missense_Mutation	SNP	C	TCGA-KL-8345-01A-11D-2310-10	3871927	49100247	200150374	3	39957											
LEPR	3953	ucsc.edu;bcgsc.ca	37	1	66083683	66083683	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr1:66083683A>G	ENST00000349533.6	+	16	2434	c.2249A>G	c.(2248-2250)aAc>aGc	p.N750S	LEPR_ENST00000371060.3_Missense_Mutation_p.N750S|LEPR_ENST00000371059.3_Missense_Mutation_p.N750S|LEPR_ENST00000344610.8_Missense_Mutation_p.N750S|LEPR_ENST00000371058.1_Missense_Mutation_p.N750S|LEPR_ENST00000406510.3_Intron	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)		TATCCTTTAAACAGCAGTTGT	0.294																																																0													99	94	96					1																	66083683		2203	4298	6501	SO:0001583	missense	3953			U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.2249A>G	1.37:g.66083683A>G	ENSP00000330393:p.Asn750Ser		Q6FHL5	Missense_Mutation	SNP	ENST00000349533.6	37	CCDS631.1	.	.	.	.	.	.	.	.	.	.	A	14.51	2.558082	0.45590	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78	5.72	4.6	0.57074	Long hematopoietin receptor, Gp130 family 2, conserved site (1);Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.042460	0.85682	N	0.000000	T	0.28962	0.0719	L	0.56280	1.765	0.80722	D	1	B;B;B	0.33528	0.292;0.416;0.204	B;B;B	0.37550	0.129;0.253;0.084	T	0.08351	-1.0726	10	0.33141	T	0.24	-16.7179	10.9072	0.47086	0.9255:0.0:0.0745:0.0	.	750;750;750	P48357;P48357-2;P48357-3	LEPR_HUMAN;.;.	S	750	ENSP00000340884:N750S;ENSP00000330393:N750S;ENSP00000360099:N750S;ENSP00000360098:N750S;ENSP00000360097:N750S	ENSP00000340884:N750S	N	+	2	0	LEPR	65856271	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.914000	0.63348	1.006000	0.39211	0.528000	0.53228	AAC		0.294	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		G	66083683	A	G	66083683	3	3	714	1	0	0	0	0	1	0	0	0	8730	43	2	3	2303	3	LEPR	1	66083683	Missense_Mutation	SNP	A	TCGA-KL-8345-01A-11D-2310-10	16983436	66083683	183166938	4	39958											
ZNHIT6	54680	broad.mit.edu	37	1	86167918	86167918	+	Missense_Mutation	SNP	C	C	T	rs542482220		TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr1:86167918C>T	ENST00000370574.3	-	5	1074	c.941G>A	c.(940-942)cGg>cAg	p.R314Q	ZNHIT6_ENST00000431532.2_Missense_Mutation_p.R275Q			Q9NWK9	BCD1_HUMAN	zinc finger, HIT-type containing 6	314					box C/D snoRNP assembly (GO:0000492)|ribosome biogenesis (GO:0042254)	extracellular vesicular exosome (GO:0070062)|pre-snoRNP complex (GO:0070761)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						ACCTTGCCTCCGGGCACGATT	0.294													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18570	0.0		0.0	False		,,,				2504	0.0															0													65	65	65					1																	86167918		2202	4299	6501	SO:0001583	missense	54680			AL442074	CCDS707.1, CCDS53338.1	1p22.3	2013-01-17	2010-09-15	2008-06-23	ENSG00000117174	ENSG00000117174		"Zinc fingers, HIT-type"	26089	protein-coding gene	gene with protein product	"box C/D snoRNA essential 1 homolog (S. cerevisiae)"		"chromosome 1 open reading frame 181", "zinc finger, HIT type 6"	C1orf181		12747765	Standard	NM_017953		Approved	FLJ20729, NY-BR-75, BCD1	uc001dlh.3	Q9NWK9	OTTHUMG00000010576	ENST00000370574.3:c.941G>A	1.37:g.86167918C>T	ENSP00000359606:p.Arg314Gln		B2RBA1|B4DP13|D3DT20|Q9H278|Q9H3X3|Q9NWN0	Missense_Mutation	SNP	ENST00000370574.3	37	CCDS707.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.641969	0.87859	.	.	ENSG00000117174	ENST00000431532;ENST00000370574	T;T	0.46819	0.9;0.86	5.37	5.37	0.77165	.	0.000000	0.64402	D	0.000001	T	0.56031	0.1958	L	0.50333	1.59	0.47547	D	0.999456	D;D	0.89917	0.965;1.0	B;D	0.66497	0.343;0.944	T	0.52593	-0.8555	10	0.45353	T	0.12	-10.7858	19.0665	0.93113	0.0:1.0:0.0:0.0	.	275;314	B4DP13;Q9NWK9	.;BCD1_HUMAN	Q	275;314	ENSP00000414344:R275Q;ENSP00000359606:R314Q	ENSP00000359606:R314Q	R	-	2	0	ZNHIT6	85940506	1.000000	0.71417	0.973000	0.42090	0.874000	0.50279	5.529000	0.67135	2.666000	0.90696	0.555000	0.69702	CGG		0.294	ZNHIT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029186.1	NM_017953		T	86167918	C	T	86167918	3	4	714	1	0	0	0	0	1	0	0	0	18214	652	23	1	495	1	ZNHIT6	1	86167918	Missense_Mutation	SNP	C	TCGA-KL-8345-01A-11D-2310-10	20084235	86167918	163082703	5	39959											
SPAG17	200162	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	1	118596629	118596629	+	Missense_Mutation	SNP	A	A	T			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr1:118596629A>T	ENST00000336338.5	-	20	2875	c.2810T>A	c.(2809-2811)cTc>cAc	p.L937H		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	937						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)		gaTTACCTTGAGAGAGCCTTC	0.353																																																0													57	59	58					1																	118596629		2200	4297	6497	SO:0001583	missense	200162				CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.2810T>A	1.37:g.118596629A>T	ENSP00000337804:p.Leu937His		Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	CCDS899.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.134317	0.77662	.	.	ENSG00000155761	ENST00000336338	T	0.49139	0.79	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.57066	0.2028	M	0.68952	2.095	0.33234	D	0.556326	D	0.89917	1.0	D	0.91635	0.999	T	0.64922	-0.6293	10	0.72032	D	0.01	.	12.1892	0.54261	1.0:0.0:0.0:0.0	.	937	Q6Q759	SPG17_HUMAN	H	937	ENSP00000337804:L937H	ENSP00000337804:L937H	L	-	2	0	SPAG17	118398152	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.007000	0.57093	2.371000	0.80710	0.533000	0.62120	CTC		0.353	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		T	118596629	A	T	118596629	3	4	714	1	0	0	0	0	1	0	0	0	14985	304	11	5	3977	5	SPAG17	1	118596629	Missense_Mutation	SNP	A	TCGA-KL-8345-01A-11D-2310-10	32428711	118596629	130653992	6	39960											
FMO2	2327	ucsc.edu	37	1	171165803	171165803	+	Missense_Mutation	SNP	G	G	T	rs28369860	byFrequency	TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr1:171165803G>T	ENST00000209929.7	+	4	495	c.337G>T	c.(337-339)Gtg>Ttg	p.V113L	FMO2_ENST00000529935.1_3'UTR|RP1-127D3.4_ENST00000445290.1_RNA|RP1-127D3.4_ENST00000422841.1_RNA|FMO2_ENST00000441535.1_Missense_Mutation_p.V113L|RP1-127D3.4_ENST00000445909.1_RNA			P31512	FMO4_HUMAN	flavin containing monooxygenase 2 (non-functional)	113					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)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGTCCTTAGTGTGAGAAAATG	0.453																																																0			GRCh37	CD033950	FMO2	D	rs28369860						106	106	106					1																	171165803		2093	4290	6383	SO:0001583	missense	2327			BC005894	CCDS1293.1	1q24.3	2011-08-04	2006-07-17		ENSG00000094963	ENSG00000094963			3770	protein-coding gene	gene with protein product		603955	"flavin containing monooxygenase 2"			1417778, 9804831	Standard	XR_426768		Approved		uc001ghk.1	Q99518	OTTHUMG00000035504	ENST00000209929.7:c.337G>T	1.37:g.171165803G>T	ENSP00000209929:p.Val113Leu		Q53XR0	Missense_Mutation	SNP	ENST00000209929.7	37	CCDS1293.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.163831	0.78226	.	.	ENSG00000094963	ENST00000209929;ENST00000441535	T;T	0.59083	0.29;0.29	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.67249	0.2873	M	0.83774	2.66	0.43803	D	0.996352	P	0.52061	0.95	P	0.57283	0.817	T	0.72010	-0.4419	10	0.62326	D	0.03	-22.4683	12.6102	0.56546	0.0796:0.0:0.9204:0.0	.	113	Q99518	FMO2_HUMAN	L	113	ENSP00000209929:V113L;ENSP00000405905:V113L	ENSP00000209929:V113L	V	+	1	0	FMO2	169432427	0.996000	0.38824	0.998000	0.56505	0.873000	0.50193	2.307000	0.43682	2.690000	0.91761	0.655000	0.94253	GTG		0.453	FMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086216.2	NM_001460		T	171165803	G	T	171165803	3	4	714	1	0	0	0	0	1	0	0	0	5957	1377	48	4	347	4	FMO2	1	171165803	Missense_Mutation	SNP	G	TCGA-KL-8345-01A-11D-2310-10	52569174	171165803	78084818	7	39961											
CFHR3	10878	hgsc.bcm.edu	37	1	196744041	196744041	+	Silent	SNP	C	C	T			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr1:196744041C>T	ENST00000367425.4	+	1	117	c.25C>T	c.(25-27)Ctg>Ttg	p.L9L	CFHR3_ENST00000471440.2_Silent_p.L9L|CFHR3_ENST00000391985.3_Silent_p.L9L	NM_021023.5	NP_066303.2	Q02985	FHR3_HUMAN	complement factor H-related 3	9						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						CAATGTCATTCTGACCTTGTG	0.338																																																0													125	135	132					1																	196744041		1920	4138	6058	SO:0001819	synonymous_variant	10878			X68679	CCDS30958.1, CCDS53453.1	1q32	2014-09-17		2006-02-28	ENSG00000116785	ENSG00000116785		"Complement system"	16980	protein-coding gene	gene with protein product	"complement factor H related 3"	605336		CFHL3		8428964, 10380701	Standard	NM_021023		Approved	FHR-3, HLF4, FHR3, DOWN16	uc001gtl.3	Q02985	OTTHUMG00000035929	ENST00000367425.4:c.25C>T	1.37:g.196744041C>T			B4DPR0|Q9UJ16	Silent	SNP	ENST00000367425.4	37	CCDS30958.1																																																																																				0.338	CFHR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087505.2	NM_021023		T	196744041	C	T	196744041	2	4	714	1	0	0	0	0	0	0	0	1	3288	912	32	2		2	CFHR3	1	196744041	Silent	SNP	C	TCGA-KL-8345-01A-11D-2310-10	25578238	196744041	52506580	8	39962											
CTSE	1510	bcgsc.ca	37	1	206327526	206327526	+	Missense_Mutation	SNP	T	T	C	rs145082936		TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr1:206327526T>C	ENST00000358184.2	+	6	833	c.715T>C	c.(715-717)Tcc>Ccc	p.S239P	CTSE_ENST00000360218.2_Missense_Mutation_p.S239P|CTSE_ENST00000432969.2_Missense_Mutation_p.S164P|CTSE_ENST00000361052.3_Missense_Mutation_p.S244P|CTSE_ENST00000468617.1_3'UTR	NM_001910.3	NP_001901.1	P14091	CATE_HUMAN	cathepsin E	244					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|digestion (GO:0007586)|protein autoprocessing (GO:0016540)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			CTACGACCACTCCCATTTCTC	0.507													t|||	1	0.000199681	0.0008	0.0	5008	,	,		19855	0.0		0.0	False		,,,				2504	0.0															0								T	PRO/SER,PRO/SER	2,4404	4.2+/-10.8	0,2,2201	168	170	169		715,715	2.7	0.8	1	dbSNP_134	169	0,8600		0,0,4300	no	missense,missense	CTSE	NM_001910.3,NM_148964.2	74,74	0,2,6501	CC,CT,TT		0.0,0.0454,0.0154	possibly-damaging,possibly-damaging	239/397,239/364	206327526	2,13004	2203	4300	6503	SO:0001583	missense	1510			BC042537	CCDS73012.1, CCDS73013.1	1q32.1	2008-02-05			ENSG00000196188	ENSG00000196188	3.4.23.5	"Cathepsins"	2530	protein-coding gene	gene with protein product		116890				2369841, 2674141	Standard	NM_001910		Approved		uc001hdu.3	P14091	OTTHUMG00000036121	ENST00000358184.2:c.715T>C	1.37:g.206327526T>C	ENSP00000350911:p.Ser239Pro		Q5TZ01|Q5TZ02|Q9NY58|Q9UCE3|Q9UCE4	Missense_Mutation	SNP	ENST00000358184.2	37	CCDS1462.1	.	.	.	.	.	.	.	.	.	.	t	17.09	3.300038	0.60195	4.54E-4	0.0	ENSG00000196188	ENST00000358184;ENST00000361052;ENST00000360218;ENST00000432969	T;T;T;T	0.60040	0.23;0.23;0.23;0.22	5.18	2.71	0.32032	.	0.084158	0.51477	D	0.000089	T	0.72471	0.3464	M	0.90542	3.125	0.31809	N	0.627447	D;D;D	0.69078	0.997;0.997;0.967	P;P;P	0.58013	0.831;0.808;0.567	T	0.77024	-0.2741	10	0.56958	D	0.05	.	8.4064	0.32616	0.1299:0.0:0.136:0.7341	.	164;239;239	B4DNU8;P14091-2;P14091-1	.;.;.	P	239;244;239;164	ENSP00000350911:S239P;ENSP00000354337:S244P;ENSP00000353350:S239P;ENSP00000394607:S164P	ENSP00000350911:S239P	S	+	1	0	CTSE	204494149	0.850000	0.29656	0.828000	0.32881	0.949000	0.60115	1.501000	0.35693	0.972000	0.38314	-0.313000	0.08912	TCC		0.507	CTSE-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000087998.1	NM_001910		C	206327526	T	C	206327526	3	2	714	1	0	0	0	0	1	0	0	0	4035	1551	54	3	737	3	CTSE	1	206327526	Missense_Mutation	SNP	T	TCGA-KL-8345-01A-11D-2310-10	9583485	206327526	42923095	9	39963											
KIDINS220	57498	broad.mit.edu;ucsc.edu;mdanderson.org	37	2	8871660	8871660	+	Silent	SNP	G	G	A			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr2:8871660G>A	ENST00000256707.3	-	30	4687	c.4506C>T	c.(4504-4506)ctC>ctT	p.L1502L	KIDINS220_ENST00000473731.1_Silent_p.L1483L|KIDINS220_ENST00000427284.1_Silent_p.L1483L|KIDINS220_ENST00000418530.1_Silent_p.L1403L	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1502					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTGTCTGGAAGAGGCTTGACC	0.468																																																0													52	53	53					2																	8871660		1887	4107	5994	SO:0001819	synonymous_variant	57498			AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"Ankyrin repeat domain containing"	29508	protein-coding gene	gene with protein product	"ankyrin repeat-rich membrane-spanning protein"	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.4506C>T	2.37:g.8871660G>A			A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Silent	SNP	ENST00000256707.3	37	CCDS42650.1																																																																																				0.468	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738		A	8871660	G	A	8871660	2	1	714	1	0	0	0	0	0	0	0	1	8273	929	33	2		2	KIDINS220	2	8871660	Silent	SNP	G	TCGA-KL-8345-01A-11D-2310-10		8871660	234327713	10	39964											
EHBP1	23301	broad.mit.edu	37	2	63223821	63223821	+	Missense_Mutation	SNP	C	C	A			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr2:63223821C>A	ENST00000263991.5	+	21	3718	c.3236C>A	c.(3235-3237)gCa>gAa	p.A1079E	EHBP1_ENST00000431489.1_Missense_Mutation_p.A1008E|EHBP1_ENST00000354487.3_Missense_Mutation_p.A1044E|EHBP1_ENST00000405289.1_Missense_Mutation_p.A1044E|EHBP1_ENST00000496857.1_3'UTR|EHBP1_ENST00000405015.3_Missense_Mutation_p.A1008E	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	1079						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)			GGAGAATTGGCAGCACTAGAG	0.448																																																0													125	119	121					2																	63223821		2203	4300	6503	SO:0001583	missense	23301			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.3236C>A	2.37:g.63223821C>A	ENSP00000263991:p.Ala1079Glu		O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9	Missense_Mutation	SNP	ENST00000263991.5	37	CCDS1872.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.173753	0.57692	.	.	ENSG00000115504	ENST00000405015;ENST00000431489;ENST00000263991;ENST00000354487;ENST00000405289;ENST00000545092	T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17	5.19	5.19	0.71726	Domain of unknown function DUF3585 (1);	0.071022	0.56097	D	0.000032	T	0.36799	0.0980	N	0.10685	0.025	0.58432	D	0.999994	D;B;D	0.89917	1.0;0.167;1.0	D;B;D	0.91635	0.998;0.221;0.999	T	0.10497	-1.0627	10	0.02654	T	1	.	18.7221	0.91698	0.0:1.0:0.0:0.0	.	1044;1008;1079	Q8NDI1-2;Q8NDI1-3;Q8NDI1	.;.;EHBP1_HUMAN	E	1008;1008;1079;1044;1044;50	ENSP00000384143:A1008E;ENSP00000403783:A1008E;ENSP00000263991:A1079E;ENSP00000346482:A1044E;ENSP00000385524:A1044E	ENSP00000263991:A1079E	A	+	2	0	EHBP1	63077325	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.438000	0.82558	0.650000	0.86243	GCA		0.448	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251616.1	NM_015252		A	63223821	C	A	63223821	3	1	714	1	0	0	0	0	1	0	0	0	4977	710	25	4	3314	4	EHBP1	2	63223821	Missense_Mutation	SNP	C	TCGA-KL-8345-01A-11D-2310-10	54352161	63223821	179975552	11	39965											
IL1F7	27178	broad.mit.edu	37	2	113671391	113671392	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr2:113671391_113671392insC	ENST00000263326.3	+	2	147_148	c.105_106insC	c.(106-108)ccafs	p.P36fs	IL37_ENST00000352179.3_Intron|IL37_ENST00000353225.3_Frame_Shift_Ins_p.P36fs|IL37_ENST00000349806.3_Intron|IL37_ENST00000311328.2_5'Flank	NM_014439.3	NP_055254.2	Q9NZH6	IL37_HUMAN	interleukin 37	36					immune response (GO:0006955)|inflammatory response (GO:0006954)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)	interleukin-1 receptor binding (GO:0005149)			NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3)	19						GCCCCCTGGAACCAGGCCCAAG	0.55																																																0																																										SO:0001589	frameshift_variant	27178			AF201832	CCDS2103.1, CCDS2104.1, CCDS2105.1, CCDS2106.1, CCDS2107.1	2q12-q14.1	2011-06-06	2011-06-06	2011-06-06	ENSG00000125571	ENSG00000125571		"Interleukins and interleukin receptors"	15563	protein-coding gene	gene with protein product	"interleukin 1, zeta", "interleukin-1 homolog 4", "interleukin-1-related protein"	605510	"interleukin 1 family, member 7 (zeta)"	IL1F7		10625660, 10512743, 12496389	Standard	NM_014439		Approved	FIL1, FIL1Z, FIL1(ZETA), IL-1H4, IL-1RP1, IL-1F7	uc002tij.3	Q9NZH6	OTTHUMG00000131345	ENST00000263326.3:c.107dupC	2.37:g.113671393_113671393dupC	ENSP00000263326:p.Pro36fs		B5BU97|Q56AP9|Q8TD04|Q8TD05|Q9HBF2|Q9HBF3|Q9UHA6	Frame_Shift_Ins	INS	ENST00000263326.3	37	CCDS2103.1																																																																																				0.55	IL37-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254126.1	NM_014439		C	113671392	-	C	113671391	7	5	714	1	0	1	1	0	0	0	0	0	7657	40	2	0	111	0	IL1F7	2	113671391	Frame_Shift_Ins	INS	-	TCGA-KL-8345-01A-11D-2310-10	50447570	113671391	129527982	12	39966											
LRP1B	53353	broad.mit.edu	37	2	141819781	141819781	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr2:141819781T>C	ENST00000389484.3	-	8	2046	c.1075A>G	c.(1075-1077)Atg>Gtg	p.M359V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	359					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)		GTTCGGTTCATCCCATCCATG	0.428										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)											0													152	133	140					2																	141819781		2203	4300	6503	SO:0001583	missense	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.1075A>G	2.37:g.141819781T>C	ENSP00000374135:p.Met359Val		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	9.638	1.138221	0.21123	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.90955	-2.76	5.63	4.45	0.53987	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.114080	0.64402	D	0.000015	T	0.82185	0.4982	N	0.12182	0.205	0.25313	N	0.989186	B	0.06786	0.001	B	0.04013	0.001	T	0.73678	-0.3907	10	0.72032	D	0.01	.	13.0624	0.59014	0.0:0.0:0.1345:0.8655	.	359	Q9NZR2	LRP1B_HUMAN	V	359;297	ENSP00000374135:M359V	ENSP00000374135:M359V	M	-	1	0	LRP1B	141536251	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.772000	0.38552	1.039000	0.40074	0.533000	0.62120	ATG		0.428	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		C	141819781	T	C	141819781	3	2	714	1	0	0	0	0	1	0	0	0	8957	1435	50	3	13060	3	LRP1B	2	141819781	Missense_Mutation	SNP	T	TCGA-KL-8345-01A-11D-2310-10	28148390	141819781	101379592	13	39967											
TLK1	9874	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	2	171871451	171871451	+	Missense_Mutation	SNP	G	G	T			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr2:171871451G>T	ENST00000431350.2	-	13	1648	c.1244C>A	c.(1243-1245)gCa>gAa	p.A415E	TLK1_ENST00000521943.1_Missense_Mutation_p.A367E|TLK1_ENST00000360843.3_Missense_Mutation_p.A436E|TLK1_ENST00000442919.2_Missense_Mutation_p.A367E|TLK1_ENST00000434911.2_Missense_Mutation_p.A319E			Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	415					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						CTGGATTTCTGCCTCTTCCTG	0.348																																																0													102	104	103					2																	171871451		2203	4300	6503	SO:0001583	missense	9874			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.1244C>A	2.37:g.171871451G>T	ENSP00000411099:p.Ala415Glu		B3KR15|B4DX87|Q14150|Q8N591|Q9NYH2|Q9Y4F6	Missense_Mutation	SNP	ENST00000431350.2	37	CCDS2241.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.141316	0.57044	.	.	ENSG00000198586	ENST00000442919;ENST00000431350;ENST00000360843;ENST00000521943;ENST00000434911	T;T;T;T;T	0.64438	-0.09;-0.1;-0.1;-0.09;-0.09	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.72755	0.3500	L	0.39514	1.22	0.80722	D	1	B;B;D	0.76494	0.114;0.389;0.999	B;B;D	0.69479	0.059;0.202;0.964	T	0.70597	-0.4828	10	0.40728	T	0.16	.	19.6128	0.95616	0.0:0.0:1.0:0.0	.	319;436;415	B4DX87;Q9UKI8-2;Q9UKI8	.;.;TLK1_HUMAN	E	367;415;436;367;319	ENSP00000402165:A367E;ENSP00000411099:A415E;ENSP00000354089:A436E;ENSP00000428113:A367E;ENSP00000409222:A319E	ENSP00000354089:A436E	A	-	2	0	TLK1	171579697	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.635000	0.89317	0.655000	0.94253	GCA		0.348	TLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255314.1	NM_012290		T	171871451	G	T	171871451	3	4	714	1	0	0	0	0	1	0	0	0	15948	1319	46	4	1092	4	TLK1	2	171871451	Missense_Mutation	SNP	G	TCGA-KL-8345-01A-11D-2310-10	30051670	171871451	71327922	14	39968											
TTN	7273	broad.mit.edu	37	2	179480474	179480474	+	Silent	SNP	A	A	G			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr2:179480474A>G	ENST00000591111.1	-	208	43655	c.43431T>C	c.(43429-43431)gaT>gaC	p.D14477D	TTN_ENST00000359218.5_Silent_p.D7178D|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Silent_p.D7053D|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.D7245D|TTN_ENST00000589042.1_Silent_p.D16118D|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Silent_p.D13550D|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14477	Fibronectin type-III 4. {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)			CTTGAACAAGATCAGGAACTG	0.378																																																0													101	94	96					2																	179480474		1854	4096	5950	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.43431T>C	2.37:g.179480474A>G			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		G	179480474	A	G	179480474	2	3	714	1	0	0	0	0	0	0	0	1	16740	330	12	3		3	TTN	2	179480474	Silent	SNP	A	TCGA-KL-8345-01A-11D-2310-10	7609023	179480474	63718899	15	39969											
IGFBP5	3488	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	217559222	217559222	+	Missense_Mutation	SNP	G	G	T			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr2:217559222G>T	ENST00000233813.4	-	1	1026	c.277C>A	c.(277-279)Ctg>Atg	p.L93M	AC007563.5_ENST00000447289.1_RNA	NM_000599.3	NP_000590.1	P24593	IBP5_HUMAN	insulin-like growth factor binding protein 5	93	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				cellular protein metabolic process (GO:0044267)|cellular response to cAMP (GO:0071320)|cellular response to organic cyclic compound (GO:0071407)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hair follicle morphogenesis (GO:0031069)|intracellular signal transduction (GO:0035556)|mammary gland involution (GO:0060056)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|striated muscle cell differentiation (GO:0051146)|type B pancreatic cell proliferation (GO:0044342)	extracellular region (GO:0005576)|insulin-like growth factor binding protein complex (GO:0016942)	insulin-like growth factor I binding (GO:0031994)			endometrium(1)|large_intestine(3)|lung(1)	5		Renal(323;0.0822)		Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCGTGCAGCAGGGCGTGCAGC	0.701																																																0													7	7	7					2																	217559222		1863	3711	5574	SO:0001583	missense	3488				CCDS2405.1	2q35	2014-09-16			ENSG00000115461	ENSG00000115461			5474	protein-coding gene	gene with protein product		146734				7511611	Standard	NM_000599		Approved		uc002vgj.4	P24593	OTTHUMG00000133058	ENST00000233813.4:c.277C>A	2.37:g.217559222G>T	ENSP00000233813:p.Leu93Met		Q5U0A3	Missense_Mutation	SNP	ENST00000233813.4	37	CCDS2405.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.261739	0.59431	.	.	ENSG00000115461	ENST00000233813;ENST00000449583	T;T	0.67171	0.12;-0.25	4.69	3.79	0.43588	Insulin-like growth factor-binding protein, IGFBP (2);Growth factor, receptor (1);	0.706652	0.14107	N	0.340990	T	0.65801	0.2726	M	0.82823	2.61	0.52501	D	0.999958	P	0.34615	0.459	B	0.22601	0.04	T	0.67891	-0.5553	10	0.72032	D	0.01	-26.447	11.8083	0.52169	0.0:0.0:0.8229:0.1771	.	93	P24593	IBP5_HUMAN	M	93	ENSP00000233813:L93M;ENSP00000413474:L93M	ENSP00000233813:L93M	L	-	1	2	IGFBP5	217267467	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.445000	0.66594	0.931000	0.37242	0.555000	0.69702	CTG		0.701	IGFBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256674.2	NM_000599		T	217559222	G	T	217559222	3	4	714	1	0	0	0	0	1	0	0	0	7584	991	35	4	557	4	IGFBP5	2	217559222	Missense_Mutation	SNP	G	TCGA-KL-8345-01A-11D-2310-10	38078748	217559222	25640151	16	39970											
TTLL4	9654	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	219610500	219610500	+	Missense_Mutation	SNP	C	C	T	rs370491335		TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr2:219610500C>T	ENST00000392102.1	+	7	2213	c.1873C>T	c.(1873-1875)Cgg>Tgg	p.R625W	TTLL4_ENST00000442769.1_Missense_Mutation_p.R625W|TTLL4_ENST00000258398.4_Missense_Mutation_p.R625W|TTLL4_ENST00000457313.1_Missense_Mutation_p.R460W	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	625	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				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)		GACCATTGGACGGTCCCACTT	0.502																																					GBM(172;1818 2053 15407 20943 49753)											0								C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	67	61	63		1873	4.6	1	2		63	1,8599	1.2+/-3.3	0,1,4299	no	missense	TTLL4	NM_014640.4	101	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	possibly-damaging	625/1200	219610500	2,13004	2203	4300	6503	SO:0001583	missense	9654				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.1873C>T	2.37:g.219610500C>T	ENSP00000375951:p.Arg625Trp		A8K6V5|Q8WW29	Missense_Mutation	SNP	ENST00000392102.1	37	CCDS2422.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.153584	0.57259	2.27E-4	1.16E-4	ENSG00000135912	ENST00000457313;ENST00000392102;ENST00000442769;ENST00000258398	T;T;T;T	0.05513	3.68;3.93;3.43;3.93	5.5	4.62	0.57501	.	0.249544	0.27402	N	0.019536	T	0.19287	0.0463	L	0.50333	1.59	0.51482	D	0.999928	D;D;P	0.89917	0.983;1.0;0.956	P;D;B	0.97110	0.492;1.0;0.256	T	0.00316	-1.1823	10	0.66056	D	0.02	.	13.2787	0.60202	0.3031:0.6969:0.0:0.0	.	460;625;625	E9PH58;E7EX20;Q14679	.;.;TTLL4_HUMAN	W	460;625;625;625	ENSP00000393332:R460W;ENSP00000375951:R625W;ENSP00000396555:R625W;ENSP00000258398:R625W	ENSP00000258398:R625W	R	+	1	2	TTLL4	219318744	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.280000	0.43443	1.294000	0.44707	0.655000	0.94253	CGG		0.502	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256726.1	NM_014640		T	219610500	C	T	219610500	3	4	714	1	0	0	0	0	1	0	0	0	16734	527	19	1	1891	1	TTLL4	2	219610500	Missense_Mutation	SNP	C	TCGA-KL-8345-01A-11D-2310-10	2051278	219610500	23588873	17	39971											
MAGI1	9223	mdanderson.org	37	3	65425591	65425591	+	Silent	SNP	T	T	C	rs374381483|rs79701778		TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr3:65425591T>C	ENST00000497477.2	-	9	1232	c.1233A>G	c.(1231-1233)caA>caG	p.Q411Q	MAGI1_ENST00000402939.2_Silent_p.Q411Q|MAGI1_ENST00000330909.8_Silent_p.Q411Q|MAGI1_ENST00000483466.1_Silent_p.Q411Q|MAGI1_ENST00000470990.1_5'UTR			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	411	Poly-Gln.				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)		gctgctgctgttgctgctgct	0.542											OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													61	60	61					3																	65425591		2191	4267	6458	SO:0001819	synonymous_variant	9223			AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"BAI1-associated protein 1"	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.1233A>G	3.37:g.65425591T>C		1084	A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Silent	SNP	ENST00000497477.2	37		.	.	.	.	.	.	.	.	.	.	T	1.469	-0.560380	0.03939	.	.	ENSG00000151276	ENST00000460329	.	.	.	2.82	-5.65	0.02459	.	.	.	.	.	T	0.27313	0.0670	.	.	.	0.21445	N	0.999683	.	.	.	.	.	.	T	0.31558	-0.9939	4	.	.	.	.	7.6202	0.28181	0.0:0.2714:0.1222:0.6064	.	.	.	.	S	292	.	.	N	-	2	0	MAGI1	65400631	0.067000	0.21026	0.000000	0.03702	0.001000	0.01503	-1.642000	0.02006	-1.408000	0.02040	-1.740000	0.00687	AAC		0.542	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742		C	65425591	T	C	65425591	2	2	714	1	0	0	0	0	0	0	0	1	9192	1722	60	3		3	MAGI1	3	65425591	Silent	SNP	T	TCGA-KL-8345-01A-11D-2310-10		65425591	132596839	18	39972	340	2									
MAGI1	9223	mdanderson.org	37	3	65425594	65425594	+	Silent	SNP	C	C	T	rs552500635	byFrequency	TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr3:65425594C>T	ENST00000497477.2	-	9	1229	c.1230G>A	c.(1228-1230)caG>caA	p.Q410Q	MAGI1_ENST00000402939.2_Silent_p.Q410Q|MAGI1_ENST00000330909.8_Silent_p.Q410Q|MAGI1_ENST00000483466.1_Silent_p.Q410Q|MAGI1_ENST00000470990.1_5'UTR			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	410	Poly-Gln.				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)		gctgctgttgctgctgctgtt	0.542											OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	722	0.144169	0.0893	0.1282	5008	,	,		14940	0.2024		0.0825	False		,,,				2504	0.2331															0													65	61	62					3																	65425594		2199	4283	6482	SO:0001819	synonymous_variant	9223			AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"BAI1-associated protein 1"	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.1230G>A	3.37:g.65425594C>T		1084	A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Silent	SNP	ENST00000497477.2	37		.	.	.	.	.	.	.	.	.	.	C	1.063	-0.672234	0.03403	.	.	ENSG00000151276	ENST00000460329	.	.	.	3.3	-0.172	0.13327	.	.	.	.	.	T	0.20292	0.0488	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.22556	-1.0213	4	.	.	.	0.8958	1.6281	0.02727	0.1431:0.3787:0.1264:0.3517	.	.	.	.	N	291	.	.	S	-	2	0	MAGI1	65400634	0.371000	0.25056	0.001000	0.08648	0.001000	0.01503	-1.015000	0.03637	-0.726000	0.04895	-0.813000	0.03139	AGC		0.542	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742		T	65425594	C	T	65425594	2	4	714	1	0	0	0	0	0	0	0	1	9192	796	28	2		2	MAGI1	3	65425594	Silent	SNP	C	TCGA-KL-8345-01A-11D-2310-10	3	65425594	132596836	19	39973	340	2									
GRAMD1C	54762	hgsc.bcm.edu;mdanderson.org	37	3	113623086	113623086	+	Silent	SNP	A	A	G			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr3:113623086A>G	ENST00000358160.4	+	8	1248	c.756A>G	c.(754-756)gaA>gaG	p.E252E	GRAMD1C_ENST00000452134.2_5'UTR|GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000440446.2_Silent_p.E47E|GRAMD1C_ENST00000472026.1_Silent_p.E85E	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	252						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						GGGTTTCAGAAACAGAGTCAT	0.363																																																0													79	86	83					3																	113623086		2203	4300	6503	SO:0001819	synonymous_variant	54762				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.756A>G	3.37:g.113623086A>G			A8K9Y1|A8KA99|Q6AW94|Q6UWN1|Q8N6S0|Q9UF46	Silent	SNP	ENST00000358160.4	37	CCDS33826.1																																																																																				0.363	GRAMD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354733.1	NM_017577		G	113623086	A	G	113623086	2	3	714	1	0	0	0	0	0	0	0	1	6751	11	1	3		3	GRAMD1C	3	113623086	Silent	SNP	A	TCGA-KL-8345-01A-11D-2310-10	48197492	113623086	84399344	20	39974											
RGS12	6002	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	4	3417849	3417849	+	Splice_Site	SNP	G	G	A			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr4:3417849G>A	ENST00000344733.5	+	7	3331		c.e7+1		RGS12_ENST00000508158.1_Splice_Site|RGS12_ENST00000336727.3_Splice_Site|RGS12_ENST00000306648.7_Splice_Site|RGS12_ENST00000382788.3_Splice_Site|RGS12_ENST00000338806.4_Splice_Site|RGS12_ENST00000538395.1_Splice_Site|RGS12_ENST00000543385.1_Splice_Site	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12						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)		GCAGCTGCAGGTAACCGCAGG	0.617																																																0													47	43	44					4																	3417849		2203	4300	6503	SO:0001630	splice_region_variant	6002			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.2427+1G>A	4.37:g.3417849G>A			B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Splice_Site	SNP	ENST00000344733.5	37	CCDS3366.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.076244	0.76415	.	.	ENSG00000159788	ENST00000344733;ENST00000336727;ENST00000382788;ENST00000306648;ENST00000338806;ENST00000538395	.	.	.	4.73	4.73	0.59995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1317	0.86728	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RGS12	3387647	1.000000	0.71417	0.992000	0.48379	0.791000	0.44710	9.444000	0.97578	2.356000	0.79943	0.650000	0.86243	.		0.617	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926	Intron	A	3417849	G	A	3417849	5	1	714	1	0	0	0	0	0	0	1	0	13301	1275	44	2	2508	2	RGS12	4	3417849	Splice_Site	SNP	G	TCGA-KL-8345-01A-11D-2310-10		3417849	187736427	21	39975											
EXOC1	55763	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	4	56737009	56737009	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr4:56737009C>T	ENST00000381295.2	+	6	1117	c.769C>T	c.(769-771)Cac>Tac	p.H257Y	EXOC1_ENST00000346134.7_Missense_Mutation_p.H257Y|EXOC1_ENST00000349598.6_Missense_Mutation_p.H257Y	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	257					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)					TGAAAGCAACCACCTAATTCA	0.343																																																0													97	101	100					4																	56737009		2203	4300	6503	SO:0001583	missense	55763			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.769C>T	4.37:g.56737009C>T	ENSP00000370695:p.His257Tyr		Q504V4|Q8WUE7|Q96T15|Q9NZE4	Missense_Mutation	SNP	ENST00000381295.2	37	CCDS3502.1	.	.	.	.	.	.	.	.	.	.	C	5.687	0.311354	0.10789	.	.	ENSG00000090989	ENST00000381295;ENST00000346134;ENST00000349598	.	.	.	5.85	5.85	0.93711	.	0.146296	0.64402	D	0.000007	T	0.52354	0.1729	L	0.36672	1.1	0.43863	D	0.996465	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42865	-0.9426	9	0.23302	T	0.38	.	15.3266	0.74168	0.0:0.9314:0.0:0.0686	.	257;257	Q9NV70-2;Q9NV70	.;EXOC1_HUMAN	Y	257	.	ENSP00000326514:H257Y	H	+	1	0	EXOC1	56431766	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.760000	0.68793	2.768000	0.95171	0.655000	0.94253	CAC		0.343	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361799.1	NM_018261		T	56737009	C	T	56737009	3	4	714	1	0	0	0	0	1	0	0	0	5303	594	21	2	787	2	EXOC1	4	56737009	Missense_Mutation	SNP	C	TCGA-KL-8345-01A-11D-2310-10	53319160	56737009	134417267	22	39976											
RASGEF1B	153020	ucsc.edu	37	4	82368697	82368697	+	Silent	SNP	A	A	G			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr4:82368697A>G	ENST00000264400.2	-	6	841	c.690T>C	c.(688-690)gtT>gtC	p.V230V	RASGEF1B_ENST00000509081.1_Silent_p.V229V|RASGEF1B_ENST00000335927.7_Silent_p.V188V	NM_152545.1	NP_689758.1	Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	230	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	endosome (GO:0005768)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						CGAACGCCTGAACAAATTCTT	0.403																																																0													81	77	78					4																	82368697		2203	4300	6503	SO:0001819	synonymous_variant	153020			AK056257	CCDS34022.1, CCDS75151.1, CCDS75152.1	4q21.21	2013-09-24				ENSG00000138670			24881	protein-coding gene	gene with protein product		614532				12488504	Standard	XM_005262776		Approved	GPIG4, FLJ31695	uc003hmi.1	Q0VAM2		ENST00000264400.2:c.690T>C	4.37:g.82368697A>G			Q0VAM1|Q4W5L7|Q4W5M3|Q96MY8	Silent	SNP	ENST00000264400.2	37	CCDS34022.1																																																																																				0.403	RASGEF1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362830.1	NM_152545		G	82368697	A	G	82368697	2	3	714	1	0	0	0	0	0	0	0	1	13076	233	9	3		3	RASGEF1B	4	82368697	Silent	SNP	A	TCGA-KL-8345-01A-11D-2310-10	25631688	82368697	108785579	23	39977											
DSPP	1834	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	4	88535754	88535754	+	Missense_Mutation	SNP	G	G	T			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr4:88535754G>T	ENST00000282478.7	+	4	1973	c.1940G>T	c.(1939-1941)aGc>aTc	p.S647I	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Missense_Mutation_p.S647I			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	647	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		gacagcaacagcagtgacagt	0.488																																																0													121	139	133					4																	88535754		1777	3262	5039	SO:0001583	missense	1834			AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.1940G>T	4.37:g.88535754G>T	ENSP00000282478:p.Ser647Ile		A8MUI0|O95815	Missense_Mutation	SNP	ENST00000282478.7	37	CCDS43248.1	.	.	.	.	.	.	.	.	.	.	G	6.014	0.371022	0.11409	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.89552	-2.53;-2.53	3.49	3.49	0.39957	.	.	.	.	.	D	0.90710	0.7085	L	0.43923	1.385	0.32597	N	0.526374	D	0.62365	0.991	P	0.62184	0.899	D	0.91798	0.5449	9	0.87932	D	0	.	12.8203	0.57690	0.0:0.0:1.0:0.0	.	647	Q9NZW4	DSPP_HUMAN	I	647	ENSP00000382213:S647I;ENSP00000282478:S647I	ENSP00000282478:S647I	S	+	2	0	DSPP	88754778	0.941000	0.31946	0.989000	0.46669	0.035000	0.12851	1.382000	0.34374	1.656000	0.50722	0.174000	0.16983	AGC		0.488	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		T	88535754	G	T	88535754	3	4	714	1	0	0	0	0	1	0	0	0	4784	971	34	4	1954	4	DSPP	4	88535754	Missense_Mutation	SNP	G	TCGA-KL-8345-01A-11D-2310-10	6167057	88535754	102618522	24	39978											
ANK2	287	hgsc.bcm.edu;ucsc.edu	37	4	114276401	114276401	+	Silent	SNP	G	G	A			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr4:114276401G>A	ENST00000357077.4	+	38	6680	c.6627G>A	c.(6625-6627)ggG>ggA	p.G2209G	ANK2_ENST00000264366.6_Silent_p.G2176G|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2209					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)		AGAATGAGGGGGTAGCCGGCT	0.502																																																0													77	79	78					4																	114276401		2203	4300	6503	SO:0001819	synonymous_variant	287			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.6627G>A	4.37:g.114276401G>A			Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	CCDS3702.1																																																																																				0.502	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		A	114276401	G	A	114276401	2	1	714	1	0	0	0	0	0	0	0	1	621	1219	43	2		2	ANK2	4	114276401	Silent	SNP	G	TCGA-KL-8345-01A-11D-2310-10	25740647	114276401	76877875	25	39979											
FAT4	79633	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	4	126389910	126389910	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr4:126389910T>C	ENST00000394329.3	+	11	12156	c.12143T>C	c.(12142-12144)cTc>cCc	p.L4048P	FAT4_ENST00000335110.5_Missense_Mutation_p.L2311P	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4048	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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						ACATATAAGCTCACCACCATG	0.408																																																0													98	98	98					4																	126389910		2203	4300	6503	SO:0001583	missense	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.12143T>C	4.37:g.126389910T>C	ENSP00000377862:p.Leu4048Pro		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	T	21.5	4.155915	0.78114	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	D;D	0.81821	-1.54;-1.54	5.17	5.17	0.71159	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.30830	U	0.008797	D	0.85062	0.5611	L	0.35854	1.095	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	0.86800	0.1991	10	0.72032	D	0.01	.	15.0242	0.71656	0.0:0.0:0.0:1.0	.	2311;4048;4048	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	P	4048;2311	ENSP00000377862:L4048P;ENSP00000335169:L2311P	ENSP00000335169:L2311P	L	+	2	0	FAT4	126609360	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.538000	0.82048	1.947000	0.56498	0.477000	0.44152	CTC		0.408	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		C	126389910	T	C	126389910	3	2	714	1	0	0	0	0	1	0	0	0	5694	1551	54	3	12185	3	FAT4	4	126389910	Missense_Mutation	SNP	T	TCGA-KL-8345-01A-11D-2310-10	12113509	126389910	64764366	26	39980											
PALLD	23022	broad.mit.edu	37	4	169837136	169837136	+	Silent	SNP	T	T	C			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr4:169837136T>C	ENST00000505667.1	+	17	2981	c.2808T>C	c.(2806-2808)gaT>gaC	p.D936D	PALLD_ENST00000507735.1_Silent_p.D432D|PALLD_ENST00000512127.1_Silent_p.D537D|PALLD_ENST00000261509.6_Silent_p.D919D|PALLD_ENST00000335742.7_Silent_p.D761D|CBR4_ENST00000509108.1_Intron			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	1143					cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		CTCCTGGAGATCTGACTGTTC	0.448									Pancreatic Cancer, Familial Clustering of																												Esophageal Squamous(109;1482 1532 18347 40239 51172)											0													97	101	100					4																	169837136		2203	4300	6503	SO:0001819	synonymous_variant	23022	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"Immunoglobulin superfamily / I-set domain containing"	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.2808T>C	4.37:g.169837136T>C			B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Silent	SNP	ENST00000505667.1	37	CCDS54818.1																																																																																				0.448	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363762.1	NM_016081		C	169837136	T	C	169837136	2	2	714	1	0	0	0	0	0	0	0	1	11409	1432	50	3		3	PALLD	4	169837136	Silent	SNP	T	TCGA-KL-8345-01A-11D-2310-10	43447226	169837136	21317140	27	39981											
HMGCS1	3157	broad.mit.edu	37	5	43297257	43297257	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr5:43297257T>C	ENST00000325110.6	-	5	792	c.586A>G	c.(586-588)Aca>Gca	p.T196A	HMGCS1_ENST00000433297.2_Missense_Mutation_p.T196A	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)	196					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						TGCATATGTGTCCCACGAAGC	0.368																																																0													116	118	118					5																	43297257		2203	4300	6503	SO:0001583	missense	3157				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.586A>G	5.37:g.43297257T>C	ENSP00000322706:p.Thr196Ala		B2RDL8	Missense_Mutation	SNP	ENST00000325110.6	37	CCDS34154.1	.	.	.	.	.	.	.	.	.	.	T	33	5.211012	0.95069	.	.	ENSG00000112972	ENST00000325110;ENST00000433297;ENST00000545275	T;T	0.77750	-1.12;-1.12	5.96	5.96	0.96718	Hydroxymethylglutaryl-coenzyme A synthase C-terminal (1);Thiolase-like (1);	0.000000	0.85682	D	0.000000	T	0.81173	0.4767	M	0.72624	2.21	0.80722	D	1	P	0.43938	0.822	P	0.45232	0.474	D	0.83710	0.0187	10	0.87932	D	0	-19.8309	16.4381	0.83884	0.0:0.0:0.0:1.0	.	196	Q01581	HMCS1_HUMAN	A	196;196;185	ENSP00000322706:T196A;ENSP00000399402:T196A	ENSP00000322706:T196A	T	-	1	0	HMGCS1	43333014	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.698000	0.84413	2.280000	0.76307	0.533000	0.62120	ACA		0.368	HMGCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368022.1			C	43297257	T	C	43297257	3	2	714	1	0	0	0	0	1	0	0	0	7234	1667	58	3	1004	3	HMGCS1	5	43297257	Missense_Mutation	SNP	T	TCGA-KL-8345-01A-11D-2310-10		43297257	137618003	28	39982											
SH3TC2	79628	broad.mit.edu	37	5	148407015	148407015	+	Silent	SNP	A	A	G			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr5:148407015A>G	ENST00000515425.1	-	11	2381	c.2280T>C	c.(2278-2280)tgT>tgC	p.C760C	SH3TC2_ENST00000512049.1_Silent_p.C753C|SH3TC2_ENST00000394358.2_Silent_p.C645C|SH3TC2_ENST00000538184.1_Silent_p.C307C|SH3TC2_ENST00000513340.1_5'Flank	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	760					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)			AAAGGATGAGACACAGGGCCC	0.617																																																0													53	59	57					5																	148407015		2203	4300	6503	SO:0001819	synonymous_variant	79628			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.2280T>C	5.37:g.148407015A>G			B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Silent	SNP	ENST00000515425.1	37	CCDS4293.1																																																																																				0.617	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577		G	148407015	A	G	148407015	2	3	714	1	0	0	0	0	0	0	0	1	14268	273	10	3		3	SH3TC2	5	148407015	Silent	SNP	A	TCGA-KL-8345-01A-11D-2310-10	105109758	148407015	32508245	29	39983											
GABBR1	2550	ucsc.edu	37	6	29580384	29580384	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr6:29580384A>G	ENST00000377034.4	-	13	1909	c.1574T>C	c.(1573-1575)gTg>gCg	p.V525A	GABBR1_ENST00000376977.3_Missense_Mutation_p.V525A|GABBR1_ENST00000377012.4_Missense_Mutation_p.V408A|GABBR1_ENST00000377016.4_Missense_Mutation_p.V463A|GABBR1_ENST00000355973.3_Missense_Mutation_p.V408A	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	525					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	ATCAAACACCACATGGCCCTG	0.532																																																0													90	79	83					6																	29580384		2203	4300	6503	SO:0001583	missense	2550			Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"GABA receptors", "GPCR / Class C : GABA(B) receptors"	4070	protein-coding gene	gene with protein product	"GABA-B receptor"	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.1574T>C	6.37:g.29580384A>G	ENSP00000366233:p.Val525Ala		B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Missense_Mutation	SNP	ENST00000377034.4	37	CCDS4663.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.592099	0.86953	.	.	ENSG00000204681	ENST00000355973;ENST00000376977;ENST00000377016;ENST00000377012;ENST00000377034	T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27	5.86	5.86	0.93980	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.89083	0.6614	M	0.92219	3.285	0.80722	D	1	D;D;D;D	0.76494	0.998;0.999;0.999;0.998	D;D;D;D	0.83275	0.99;0.994;0.996;0.994	D	0.91670	0.5349	10	0.87932	D	0	-6.9297	14.1969	0.65677	1.0:0.0:0.0:0.0	.	525;463;525;408	Q9UBS5-5;Q9UBS5-3;Q9UBS5;Q5SUJ9	.;.;GABR1_HUMAN;.	A	408;525;463;408;525	ENSP00000348248:V408A;ENSP00000366176:V525A;ENSP00000366215:V463A;ENSP00000366211:V408A;ENSP00000366233:V525A	ENSP00000348248:V408A	V	-	2	0	GABBR1	29688363	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.901000	0.92560	2.241000	0.73720	0.482000	0.46254	GTG		0.532	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3			G	29580384	A	G	29580384	3	3	714	1	0	0	0	0	1	0	0	0	6157	159	6	3	1355	3	GABBR1	6	29580384	Missense_Mutation	SNP	A	TCGA-KL-8345-01A-11D-2310-10		29580384	141534683	30	39984											
FAM26F	441168	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	6	116784510	116784510	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr6:116784510G>A	ENST00000368605.1	+	3	685	c.590G>A	c.(589-591)cGa>cAa	p.R197Q	RP1-93H18.6_ENST00000476099.1_RNA|FAM26F_ENST00000368606.3_Missense_Mutation_p.R25Q	NM_001010919.1	NP_001010919.1	Q5R3K3	FA26F_HUMAN	family with sequence similarity 26, member F	197					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				large_intestine(2)|lung(1)	3				GBM - Glioblastoma multiforme(226;0.0402)|all cancers(137;0.0627)|OV - Ovarian serous cystadenocarcinoma(136;0.0655)|Epithelial(106;0.231)		TCTGTCACCCGATGCCTATCT	0.378																																																0													168	165	166					6																	116784510		2203	4300	6503	SO:0001583	missense	441168			AF086130	CCDS34519.1, CCDS64506.1	6q22.1	2007-06-20			ENSG00000188820	ENSG00000188820			33391	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 187"	C6orf187			Standard	NM_001010919		Approved	RP1-93H18.5, OTTHUMP00000017061, OTTHUMP00000017062, dJ93H18.5	uc003pwv.4	Q5R3K3	OTTHUMG00000015438	ENST00000368605.1:c.590G>A	6.37:g.116784510G>A	ENSP00000357594:p.Arg197Gln		B9EJB0|Q5R3K4	Missense_Mutation	SNP	ENST00000368605.1	37	CCDS34519.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.160601	0.38119	.	.	ENSG00000188820	ENST00000368606;ENST00000368605;ENST00000368604	T;T;T	0.18960	2.18;2.18;2.18	5.11	0.291	0.15732	.	0.313768	0.24436	N	0.038546	T	0.06917	0.0176	M	0.63208	1.945	0.19300	N	0.99997	P	0.34800	0.469	B	0.26416	0.069	T	0.21586	-1.0241	10	0.36615	T	0.2	-0.8065	9.9369	0.41556	0.3389:0.0:0.6611:0.0	.	197	Q5R3K3	FA26F_HUMAN	Q	25;197;40	ENSP00000357595:R25Q;ENSP00000357594:R197Q;ENSP00000357593:R40Q	ENSP00000357593:R40Q	R	+	2	0	FAM26F	116891203	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-0.122000	0.10627	0.078000	0.16900	-0.136000	0.14681	CGA		0.378	FAM26F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041946.1	NM_001010919		A	116784510	G	A	116784510	3	1	714	1	0	0	0	0	1	0	0	0	5553	1058	37	1	596	1	FAM26F	6	116784510	Missense_Mutation	SNP	G	TCGA-KL-8345-01A-11D-2310-10	87204126	116784510	54330557	31	39985											
LRCH4	4034	broad.mit.edu	37	7	100174729	100174729	+	Silent	SNP	C	C	A			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr7:100174729C>A	ENST00000310300.6	-	12	1396	c.1344G>T	c.(1342-1344)gtG>gtT	p.V448V	LRCH4_ENST00000497245.1_5'UTR	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	448					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)					CTTGAGTGGACACGGCGGCGG	0.602																																																0													87	84	85					7																	100174729		2203	4300	6503	SO:0001819	synonymous_variant	4034			AF053356	CCDS34706.1	7q22	2008-05-20	2004-05-27	2004-05-28	ENSG00000077454	ENSG00000077454			6691	protein-coding gene	gene with protein product				LRN, LRRN1		9799793	Standard	XM_005250346		Approved		uc003uvj.3	O75427	OTTHUMG00000159544	ENST00000310300.6:c.1344G>T	7.37:g.100174729C>A			A4D2D5|Q8WV85|Q96ID0	Silent	SNP	ENST00000310300.6	37	CCDS34706.1																																																																																				0.602	LRCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356110.1	NM_002319		A	100174729	C	A	100174729	2	1	714	1	0	0	0	0	0	0	0	1	8937	465	17	4		4	LRCH4	7	100174729	Silent	SNP	C	TCGA-KL-8345-01A-11D-2310-10		100174729	58963934	32	39986											
PODXL	5420	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	7	131189141	131189141	+	Missense_Mutation	SNP	C	C	A			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr7:131189141C>A	ENST00000378555.3	-	9	1853	c.1606G>T	c.(1606-1608)Gac>Tac	p.D536Y	PODXL_ENST00000537928.1_Missense_Mutation_p.D504Y|PODXL_ENST00000322985.9_Missense_Mutation_p.D504Y|PODXL_ENST00000541194.1_Missense_Mutation_p.D538Y			O00592	PODXL_HUMAN	podocalyxin-like	536					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)					ATCCAGCTGTCCCCCAGCTCC	0.577																																																0													158	132	141					7																	131189141		2203	4300	6503	SO:0001583	missense	5420				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.1606G>T	7.37:g.131189141C>A	ENSP00000367817:p.Asp536Tyr		A6NHX8|Q52LZ7|Q53ER6	Missense_Mutation	SNP	ENST00000378555.3	37	CCDS34755.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930812	0.92389	.	.	ENSG00000128567	ENST00000541194;ENST00000537928;ENST00000544955;ENST00000378555;ENST00000322985	T;T;T;T	0.27256	1.68;1.68;1.68;1.68	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.53190	0.1781	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.54105	-0.8343	10	0.87932	D	0	-46.4256	18.7315	0.91736	0.0:1.0:0.0:0.0	.	504;536	O00592-2;O00592	.;PODXL_HUMAN	Y	538;504;494;536;504	ENSP00000440518:D538Y;ENSP00000442655:D504Y;ENSP00000367817:D536Y;ENSP00000319782:D504Y	ENSP00000319782:D504Y	D	-	1	0	PODXL	130839681	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.487000	0.81328	2.662000	0.90505	0.555000	0.69702	GAC		0.577	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2	NM_001018111		A	131189141	C	A	131189141	3	1	714	1	0	0	0	0	1	0	0	0	12182	855	30	4	74	4	PODXL	7	131189141	Missense_Mutation	SNP	C	TCGA-KL-8345-01A-11D-2310-10	31014412	131189141	27949522	33	39987											
VIPR2	7434	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	7	158823446	158823446	+	Missense_Mutation	SNP	C	C	A			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr7:158823446C>A	ENST00000262178.2	-	13	1363	c.1178G>T	c.(1177-1179)cGg>cTg	p.R393L	VIPR2_ENST00000377633.3_Missense_Mutation_p.R377L|VIPR2_ENST00000402066.1_Missense_Mutation_p.R534L	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	393					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)		GGTCGGGCACCGGCTTCGCCA	0.706																																					Pancreas(154;1876 1931 2329 17914 20079)											0													12	16	15					7																	158823446		2180	4293	6473	SO:0001583	missense	7434			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.1178G>T	7.37:g.158823446C>A	ENSP00000262178:p.Arg393Leu		Q13053|Q15870|Q53Y09|Q6ZN22|Q9UCW0	Missense_Mutation	SNP	ENST00000262178.2	37	CCDS5950.1	.	.	.	.	.	.	.	.	.	.	C	8.045	0.764687	0.15914	.	.	ENSG00000106018	ENST00000262178;ENST00000377633;ENST00000402066	T;T;T	0.64260	-0.09;-0.09;-0.09	5.23	-2.09	0.07232	.	0.972737	0.08346	N	0.960015	T	0.25680	0.0625	N	0.00583	-1.355	0.19575	N	0.999965	B	0.02656	0.0	B	0.01281	0.0	T	0.19386	-1.0307	10	0.28530	T	0.3	.	8.2774	0.31881	0.3583:0.4777:0.0:0.164	.	393	P41587	VIPR2_HUMAN	L	393;377;534	ENSP00000262178:R393L;ENSP00000366860:R377L;ENSP00000384497:R534L	ENSP00000262178:R393L	R	-	2	0	VIPR2	158516207	0.254000	0.23992	0.005000	0.12908	0.288000	0.27193	0.645000	0.24782	-0.671000	0.05274	-0.678000	0.03780	CGG		0.706	VIPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322675.1	NM_003382		A	158823446	C	A	158823446	3	1	714	1	0	0	0	0	1	0	0	0	17175	652	23	4	142	4	VIPR2	7	158823446	Missense_Mutation	SNP	C	TCGA-KL-8345-01A-11D-2310-10	27634305	158823446	315217	34	39988											
TJP2	9414	broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	71845079	71845079	+	Missense_Mutation	SNP	T	T	G			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr9:71845079T>G	ENST00000377245.4	+	11	1810	c.1602T>G	c.(1600-1602)ttT>ttG	p.F534L	TJP2_ENST00000539225.1_Missense_Mutation_p.F565L|TJP2_ENST00000453658.2_Missense_Mutation_p.F511L|TJP2_ENST00000265384.7_Missense_Mutation_p.F534L|TJP2_ENST00000348208.4_Missense_Mutation_p.F534L|TJP2_ENST00000535702.1_Missense_Mutation_p.F538L	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	534	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				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						TCGGGATATTTGTTGCTGGCA	0.517																																																0													86	85	86					9																	71845079		2203	4300	6503	SO:0001583	missense	9414			L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"Friedreich ataxia region gene X104 (tight junction protein ZO-2)", "zona occludens 2"	607709	"deafness, autosomal dominant 51"	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.1602T>G	9.37:g.71845079T>G	ENSP00000366453:p.Phe534Leu		A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Missense_Mutation	SNP	ENST00000377245.4	37	CCDS6627.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.412389	0.83340	.	.	ENSG00000119139	ENST00000453658;ENST00000377245;ENST00000348208;ENST00000265384;ENST00000535702;ENST00000539225	T;T;T;T;T;T	0.56444	0.46;0.46;0.46;0.46;0.46;0.46	5.86	3.5	0.40072	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.68366	0.2993	M	0.71871	2.18	0.80722	D	1	B;D;D;P;P	0.71674	0.208;0.981;0.998;0.857;0.458	B;P;D;P;B	0.80764	0.038;0.86;0.994;0.498;0.2	T	0.71272	-0.4642	10	0.87932	D	0	.	10.9646	0.47406	0.0:0.1323:0.0:0.8677	.	565;538;534;534;534	F5H301;F5H886;Q9UDY2-2;Q9UDY2;Q9UDY2-5	.;.;.;ZO2_HUMAN;.	L	511;534;534;534;538;565	ENSP00000392178:F511L;ENSP00000366453:F534L;ENSP00000345893:F534L;ENSP00000265384:F534L;ENSP00000442090:F538L;ENSP00000438262:F565L	ENSP00000265384:F534L	F	+	3	2	TJP2	71034899	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	1.278000	0.33179	1.145000	0.42336	0.528000	0.53228	TTT		0.517	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052572.2	NM_201629		G	71845079	T	G	71845079	3	3	714	1	0	0	0	0	1	0	0	0	15935	1809	63	5	1801	5	TJP2	9	71845079	Missense_Mutation	SNP	T	TCGA-KL-8345-01A-11D-2310-10		71845079	69368352	35	39989											
PTEN	5728	broad.mit.edu;hgsc.bcm.edu	37	10	89711920	89711926	+	Frame_Shift_Del	DEL	TACCTGT	TACCTGT	-			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	TACCTGT	TACCTGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr10:89711920_89711926delTACCTGT	ENST00000371953.3	+	6	1895_1901	c.538_544delTACCTGT	c.(538-546)tacctgttafs	p.YLL180fs		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	180	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.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.S179fs*3(1)|p.G165_*404del(1)|p.Y180*(1)|p.V175fs*3(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)		TTATTATAGCTACCTGTTAAAGAATCA	0.377		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	phosphatase and tensin homolog gene		"L, E, M, O"	58	Whole gene deletion(37)|Deletion - Frameshift(12)|Unknown(4)|Complex - frameshift(3)|Deletion - In frame(1)|Substitution - Nonsense(1)	prostate(16)|central_nervous_system(13)|skin(9)|lung(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)	GRCh37	CM043774|CM074469|HM971505	PTEN	M																																				SO:0001589	frameshift_variant	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.538_544delTACCTGT	10.37:g.89711920_89711926delTACCTGT	ENSP00000361021:p.Tyr180fs		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL	ENST00000371953.3	37	CCDS31238.1																																																																																				0.377	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		-	89711926	TACCTGT	-	89711920	7	5	714	1	0	1	0	1	0	0	0	0	12743	1522	53	0	560	0	PTEN	10	89711920	Frame_Shift_Del	DEL	TACCTGT	TCGA-KL-8345-01A-11D-2310-10		89711920	45822827	36	39990	341	2									
PTEN	5728	bcgsc.ca	37	10	89711921	89711927	+	Frame_Shift_Del	DEL	TACCTGT	TACCTGT	-			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	TACCTGT	TACCTGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr10:89711921_89711927delTACCTGT	ENST00000371953.3	+	6	1896_1902	c.539_545delTACCTGT	c.(538-546)ttacctgtafs	p.LPV180fs		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	180	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.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.S179fs*3(1)|p.G165_*404del(1)|p.Y180*(1)|p.V175fs*3(1)|p.L182*(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)		TATTATAGCTACCTGTTAAAGAATCAT	0.382		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	phosphatase and tensin homolog gene		"L, E, M, O"	59	Whole gene deletion(37)|Deletion - Frameshift(12)|Unknown(4)|Complex - frameshift(3)|Substitution - Nonsense(2)|Deletion - In frame(1)	prostate(16)|central_nervous_system(13)|skin(9)|endometrium(5)|lung(5)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)	GRCh37	CM043774|CM074469|HM971505	PTEN	M																																				SO:0001589	frameshift_variant	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.539_545delTACCTGT	10.37:g.89711921_89711927delTACCTGT	ENSP00000361021:p.Leu180fs		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL	ENST00000371953.3	37	CCDS31238.1																																																																																				0.382	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		-	89711927	TACCTGT	-	89711921	7	5	714	1	0	1	0	1	0	0	0	0	12743	391	14	0	561	0	PTEN	10	89711921	Frame_Shift_Del	DEL	TACCTGT	TCGA-KL-8345-01A-11D-2310-10	1	89711921	45822826	37	39991	341	2									
MTCH2	23788	broad.mit.edu;hgsc.bcm.edu	37	11	47653265	47653265	+	Splice_Site	SNP	T	T	C			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr11:47653265T>C	ENST00000302503.3	-	6	527		c.e6-2		MTCH2_ENST00000534074.1_5'Flank|MTCH2_ENST00000542981.1_Intron	NM_014342.3	NP_055157.1	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2						protein localization to mitochondrion (GO:0070585)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						TCGAGTTGTCTAGAAACAATC	0.418																																																0													149	120	130					11																	47653265		2201	4298	6499	SO:0001630	splice_region_variant	23788			AF085361	CCDS7943.1	11p11.2	2013-05-22	2011-05-19		ENSG00000109919	ENSG00000109919		"Solute carriers"	17587	protein-coding gene	gene with protein product	"solute carrier family 25, member 50"	613221	"mitochondrial carrier homolog 2 (C. elegans)"				Standard	NM_014342		Approved	SLC25A50	uc010rho.2	Q9Y6C9	OTTHUMG00000166926	ENST00000302503.3:c.370-2A>G	11.37:g.47653265T>C			B2R7L8	Splice_Site	SNP	ENST00000302503.3	37	CCDS7943.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.425426	0.83667	.	.	ENSG00000109919	ENST00000302503;ENST00000530428;ENST00000530558	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9784	0.71293	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	MTCH2	47609841	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.465000	0.73538	2.188000	0.69820	0.533000	0.62120	.		0.418	MTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391921.2	NM_014342	Intron	C	47653265	T	C	47653265	5	2	714	1	0	0	0	0	0	0	1	0	9916	1536	53	3	575	3	MTCH2	11	47653265	Splice_Site	SNP	T	TCGA-KL-8345-01A-11D-2310-10		47653265	87353251	38	39992											
OR1S2	219958	mdanderson.org	37	11	57971190	57971190	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr11:57971190G>A	ENST00000302592.6	-	1	463	c.464C>T	c.(463-465)aCt>aTt	p.T155I		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	155						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T155I(1)		endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				TGTGAGCAAAGTGCCGAACCT	0.488																																																1	Substitution - Missense(1)	skin(1)											183	172	176					11																	57971190		2201	4296	6497	SO:0001583	missense	219958			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.464C>T	11.37:g.57971190G>A	ENSP00000305469:p.Thr155Ile		Q6IFG5|Q96R85	Missense_Mutation	SNP	ENST00000302592.6	37	CCDS31545.1	.	.	.	.	.	.	.	.	.	.	g	0.008	-1.862128	0.00552	.	.	ENSG00000197887	ENST00000302592	T	0.35421	1.31	4.47	0.804	0.18697	GPCR, rhodopsin-like superfamily (1);	1.024400	0.07804	N	0.956995	T	0.11367	0.0277	N	0.00525	-1.395	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.24440	-1.0160	10	0.34782	T	0.22	.	7.5141	0.27590	0.6178:0.0:0.3822:0.0	.	155	Q8NGQ3	OR1S2_HUMAN	I	155	ENSP00000305469:T155I	ENSP00000305469:T155I	T	-	2	0	OR1S2	57727766	0.000000	0.05858	0.013000	0.15412	0.026000	0.11368	-0.153000	0.10144	0.277000	0.22141	-0.285000	0.09966	ACT		0.488	OR1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394703.2	NM_001004459		A	57971190	G	A	57971190	3	1	714	1	0	0	0	0	1	0	0	0	10975	1029	36	2	516	2	OR1S2	11	57971190	Missense_Mutation	SNP	G	TCGA-KL-8345-01A-11D-2310-10	10317925	57971190	77035326	39	39993											
RASSF3	283349	mdanderson.org	37	12	65004520	65004520	+	Silent	SNP	A	A	G	rs77813527	byFrequency	TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr12:65004520A>G	ENST00000542104.1	+	1	228	c.108A>G	c.(106-108)caA>caG	p.Q36Q	RASSF3_ENST00000540088.1_3'UTR|RP11-338E21.1_ENST00000546135.1_RNA|RASSF3_ENST00000336061.2_Silent_p.Q36Q	NM_178169.3	NP_835463.1	Q86WH2	RASF3_HUMAN	Ras association (RalGDS/AF-6) domain family member 3	36					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(2;0.00133)|LUAD - Lung adenocarcinoma(6;0.0665)|LUSC - Lung squamous cell carcinoma(43;0.132)	GBM - Glioblastoma multiforme(28;0.0611)		GCTCCGGCCAACAAGTGAGTG	0.726													G|||	624	0.124601	0.1755	0.121	5008	,	,		9170	0.0089		0.2078	False		,,,				2504	0.092															0								G	,	823,3551		97,629,1461	14	16	16		108,108	2.5	1	12	dbSNP_131	16	1644,6926		160,1324,2801	no	coding-synonymous,coding-synonymous	RASSF3	NM_001242691.1,NM_178169.3	,	257,1953,4262	GG,GA,AA		19.1832,18.8157,19.059	,	36/91,36/239	65004520	2467,10477	2187	4285	6472	SO:0001819	synonymous_variant	283349				CCDS8969.1	12q14.2	2008-02-22	2008-02-22		ENSG00000153179	ENSG00000153179			14271	protein-coding gene	gene with protein product		607019					Standard	NM_178169		Approved		uc001ssd.3	Q86WH2	OTTHUMG00000168812	ENST00000542104.1:c.108A>G	12.37:g.65004520A>G			Q86WH1	Silent	SNP	ENST00000542104.1	37	CCDS8969.1																																																																																				0.726	RASSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401161.1			G	65004520	A	G	65004520	2	3	714	1	0	0	0	0	0	0	0	1	13093	40	2	3		3	RASSF3	12	65004520	Silent	SNP	A	TCGA-KL-8345-01A-11D-2310-10		65004520	68847375	40	39994											
PABPC3	5042	mdanderson.org	37	13	25671795	25671795	+	Missense_Mutation	SNP	C	C	T	rs113416318	byFrequency	TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr13:25671795C>T	ENST00000281589.3	+	1	1496	c.1459C>T	c.(1459-1461)Cgt>Tgt	p.R487C		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	487					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)		AGTGGGTCCACGTCctgcagc	0.522													c|||	175	0.0349441	0.0537	0.0403	5008	,	,		21647	0.0119		0.0159	False		,,,				2504	0.0491															0																																										SO:0001583	missense	5042			AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"RNA binding motif (RRM) containing"	8556	protein-coding gene	gene with protein product	"testis PABP"	604680	"poly(A)-binding protein, cytoplasmic 3"	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1459C>T	13.37:g.25671795C>T	ENSP00000281589:p.Arg487Cys		Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.862076	0.51482	.	.	ENSG00000151846	ENST00000281589	T	0.31247	1.5	0.875	0.875	0.19130	.	0.135300	0.32190	U	0.006459	T	0.29556	0.0737	L	0.59436	1.845	0.58432	D	0.999997	D	0.58970	0.984	P	0.45660	0.489	T	0.12630	-1.0540	10	0.72032	D	0.01	.	7.5489	0.27783	0.0:1.0:0.0:0.0	.	487	Q9H361	PABP3_HUMAN	C	487	ENSP00000281589:R487C	ENSP00000281589:R487C	R	+	1	0	PABPC3	24569795	1.000000	0.71417	0.944000	0.38274	0.640000	0.38277	4.773000	0.62331	0.759000	0.33084	0.313000	0.20887	CGT		0.522	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		T	25671795	C	T	25671795	3	4	714	1	0	0	0	0	1	0	0	0	11367	536	19	1	1461	1	PABPC3	13	25671795	Missense_Mutation	SNP	C	TCGA-KL-8345-01A-11D-2310-10		25671795	89498083	41	39995											
COMMD6	170622	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	13	76111919	76111919	+	Missense_Mutation	SNP	G	G	A	rs143172831		TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr13:76111919G>A	ENST00000377615.3	-	2	187	c.23C>T	c.(22-24)cCg>cTg	p.P8L	COMMD6_ENST00000406936.3_Missense_Mutation_p.P8L|COMMD6_ENST00000377619.5_5'Flank|COMMD6_ENST00000460675.1_Intron|COMMD6_ENST00000355801.4_Missense_Mutation_p.P8L			Q7Z4G1	COMD6_HUMAN	COMM domain containing 6	8					negative regulation of NF-kappaB transcription factor activity (GO:0032088)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	NF-kappaB binding (GO:0051059)			breast(1)|lung(1)|urinary_tract(1)	3		Breast(118;0.0979)|Prostate(6;0.122)		GBM - Glioblastoma multiforme(99;0.0104)		AGCATCCAGCGGCGGCTCGCT	0.607																																																0													93	92	92					13																	76111919		2203	4300	6503	SO:0001583	missense	170622			AY542161	CCDS9451.1, CCDS9452.1	13q22	2004-02-18			ENSG00000188243	ENSG00000188243			24015	protein-coding gene	gene with protein product		612377				15799966	Standard	NM_203497		Approved	Acrg	uc001vjn.1	Q7Z4G1	OTTHUMG00000017089	ENST00000377615.3:c.23C>T	13.37:g.76111919G>A	ENSP00000366841:p.Pro8Leu		A6NF28|B7ZLN0|Q5TBK4	Missense_Mutation	SNP	ENST00000377615.3	37	CCDS9451.1	.	.	.	.	.	.	.	.	.	.	G	2.380	-0.342358	0.05243	.	.	ENSG00000188243	ENST00000406936;ENST00000377615;ENST00000355801	T;T;T	0.44482	0.95;0.95;0.92	4.65	-9.3	0.00649	.	1.794200	0.03225	N	0.178138	T	0.18173	0.0436	.	.	.	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.14144	-1.0483	9	0.17832	T	0.49	.	2.2716	0.04092	0.1391:0.3574:0.1364:0.3671	.	8;8	Q7Z4G1;Q7Z4G1-2	COMD6_HUMAN;.	L	8	ENSP00000385660:P8L;ENSP00000366841:P8L;ENSP00000348054:P8L	ENSP00000348054:P8L	P	-	2	0	COMMD6	75009920	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-5.131000	0.00148	-3.141000	0.00233	-2.406000	0.00223	CCG		0.607	COMMD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045288.4	XM_085023		A	76111919	G	A	76111919	3	1	714	1	0	0	0	0	1	0	0	0	3722	1116	39	1	293	1	COMMD6	13	76111919	Missense_Mutation	SNP	G	TCGA-KL-8345-01A-11D-2310-10	50440124	76111919	39057959	42	39996											
APEX1	328	broad.mit.edu	37	14	20925577	20925578	+	Frame_Shift_Del	DEL	CT	CT	-	rs565835054		TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr14:20925577_20925578delCT	ENST00000216714.3	+	5	1135_1136	c.867_868delCT	c.(865-870)cactctfs	p.S290fs	APEX1_ENST00000555414.1_Frame_Shift_Del_p.S290fs|APEX1_ENST00000398030.4_Frame_Shift_Del_p.S290fs|OSGEP_ENST00000556252.1_5'Flank|APEX1_ENST00000557054.1_3'UTR|OSGEP_ENST00000206542.4_5'Flank	NM_001244249.1|NM_001641.3	NP_001231178.1|NP_001632.2	P27695	APEX1_HUMAN	APEX nuclease (multifunctional DNA repair enzyme) 1	290	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)	TGTTGTCCCACTCTCTGTTACC	0.485								Other BER factors																																								0																																										SO:0001589	frameshift_variant	328			X59764	CCDS9550.1	14q11.2	2008-02-05	2002-09-11	2002-09-13	ENSG00000100823	ENSG00000100823	4.2.99.18		587	protein-coding gene	gene with protein product		107748	"APEX nuclease (multifunctional DNA repair enzyme)"	APEX			Standard	NM_001641		Approved	APE, REF1, HAP1, APX, APEN, REF-1, APE-1	uc021rnr.1	P27695	OTTHUMG00000029544	ENST00000216714.3:c.867_868delCT	14.37:g.20925581_20925582delCT	ENSP00000216714:p.Ser290fs		Q969L5|Q99775	Frame_Shift_Del	DEL	ENST00000216714.3	37	CCDS9550.1																																																																																				0.485	APEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073641.3	NM_001641		-	20925578	CT	-	20925577	7	5	714	1	0	1	0	1	0	0	0	0	769	564	20	0	881	0	APEX1	14	20925577	Frame_Shift_Del	DEL	CT	TCGA-KL-8345-01A-11D-2310-10		20925577	86423963	43	39997											
C14orf21	161424	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	14	24773484	24773484	+	Splice_Site	SNP	G	G	A			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr14:24773484G>A	ENST00000267425.3	+	8	1740		c.e8+1		NOP9_ENST00000396802.3_Intron	NM_174913.1	NP_777573.1	Q86U38	NOP9_HUMAN	NOP9 nucleolar protein								poly(A) RNA binding (GO:0044822)										GAACCTAAAGGTTAGATTTCT	0.517																																																0													58	54	55					14																	24773484		2203	4300	6503	SO:0001630	splice_region_variant	161424				CCDS9624.1, CCDS66616.1	14q12	2012-12-10	2012-12-10	2012-06-06	ENSG00000196943	ENSG00000196943			19826	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 21", "NOP9 nucleolar protein homolog (yeast)"	C14orf21		21653694	Standard	XM_005267385		Approved		uc001wol.1	Q86U38	OTTHUMG00000029342	ENST00000267425.3:c.1647+1G>A	14.37:g.24773484G>A			A8MY76|Q8IVF0|Q8TBS6	Splice_Site	SNP	ENST00000267425.3	37	CCDS9624.1	.	.	.	.	.	.	.	.	.	.	G	19.41	3.821463	0.71028	.	.	ENSG00000196943	ENST00000267425;ENST00000544934	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1971	0.89826	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C14orf21	23843324	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	5.521000	0.67086	2.832000	0.97577	0.655000	0.94253	.		0.517	NOP9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073186.2		Intron	A	24773484	G	A	24773484	5	1	714	1	0	0	0	0	0	0	1	0	1771	1275	44	2	1678	2	C14orf21	14	24773484	Splice_Site	SNP	G	TCGA-KL-8345-01A-11D-2310-10	3847907	24773484	82576056	44	39998											
BEGAIN	57596	ucsc.edu	37	14	101005154	101005154	+	Missense_Mutation	SNP	G	G	T			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr14:101005154G>T	ENST00000355173.2	-	7	1005	c.934C>A	c.(934-936)Cac>Aac	p.H312N	BEGAIN_ENST00000443071.2_Missense_Mutation_p.H312N|CTD-2062F14.3_ENST00000553301.1_lincRNA|BEGAIN_ENST00000556751.1_Missense_Mutation_p.H248N	NM_020836.3	NP_065887.1	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	312						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)				GCCTGCGCGTGCTCCTTCTCC	0.682																																					NSCLC(159;1889 2010 9965 27479 40101)											0													36	33	34					14																	101005154		2197	4299	6496	SO:0001583	missense	57596			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.934C>A	14.37:g.101005154G>T	ENSP00000347301:p.His312Asn		Q9NPU3|Q9P282	Missense_Mutation	SNP	ENST00000355173.2	37	CCDS9962.1	.	.	.	.	.	.	.	.	.	.	G	1.444	-0.566895	0.03910	.	.	ENSG00000183092	ENST00000355173;ENST00000556751;ENST00000443071	.	.	.	4.47	3.5	0.40072	.	0.369879	0.29417	N	0.012213	T	0.19644	0.0472	N	0.13043	0.29	0.28097	N	0.931556	B	0.09022	0.002	B	0.08055	0.003	T	0.18116	-1.0347	9	0.07813	T	0.8	.	6.959	0.24587	0.0:0.1379:0.5106:0.3515	.	312	Q9BUH8	BEGIN_HUMAN	N	312;248;312	.	ENSP00000347301:H312N	H	-	1	0	BEGAIN	100074907	1.000000	0.71417	0.997000	0.53966	0.947000	0.59692	2.716000	0.47219	2.036000	0.60181	0.462000	0.41574	CAC		0.682	BEGAIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414329.1	NM_020836		T	101005154	G	T	101005154	3	4	714	1	0	0	0	0	1	0	0	0	1397	1319	46	4	851	4	BEGAIN	14	101005154	Missense_Mutation	SNP	G	TCGA-KL-8345-01A-11D-2310-10	76231670	101005154	6344386	45	39999											
CACNA1H	8912	ucsc.edu	37	16	1260601	1260601	+	Missense_Mutation	SNP	G	G	A	rs28365125		TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr16:1260601G>A	ENST00000348261.5	+	20	4236	c.3988G>A	c.(3988-3990)Gtc>Atc	p.V1330I	CACNA1H_ENST00000565831.1_Missense_Mutation_p.V1330I|CACNA1H_ENST00000358590.4_Missense_Mutation_p.V1330I	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1330					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)	CTTCCTCAGCGTCTCCAATTA	0.672																																																0								G	ILE/VAL,ILE/VAL	1,3987		0,1,1993	31	36	34		3988,3988	3.4	1	16	dbSNP_126	34	1,8313		0,1,4156	no	missense,missense	CACNA1H	NM_001005407.1,NM_021098.2	29,29	0,2,6149	AA,AG,GG		0.012,0.0251,0.0163	possibly-damaging,possibly-damaging	1330/2348,1330/2354	1260601	2,12300	1994	4157	6151	SO:0001583	missense	8912			AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.3988G>A	16.37:g.1260601G>A	ENSP00000334198:p.Val1330Ile		B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.492879	0.26774	2.51E-4	1.2E-4	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.97404	-4.37;-4.37	4.33	3.37	0.38596	.	0.069856	0.56097	D	0.000030	D	0.91392	0.7284	N	0.17838	0.53	0.26391	N	0.976573	B;B;B;B;B	0.33000	0.393;0.016;0.035;0.012;0.068	B;B;B;B;B	0.23275	0.04;0.045;0.013;0.005;0.027	D	0.84502	0.0617	10	0.34782	T	0.22	.	11.7075	0.51605	0.0879:0.0:0.9121:0.0	rs28365125;rs45605133	71;71;71;1330;1330	A2SX38;A2SX35;A2SX37;O95180-2;O95180	.;.;.;.;CAC1H_HUMAN	I	1330	ENSP00000334198:V1330I;ENSP00000351401:V1330I	ENSP00000334198:V1330I	V	+	1	0	CACNA1H	1200602	0.996000	0.38824	1.000000	0.80357	0.952000	0.60782	2.631000	0.46502	1.034000	0.39945	0.543000	0.68304	GTC		0.672	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		A	1260601	G	A	1260601	3	1	714	1	0	0	0	0	1	0	0	0	2547	1145	40	1	4062	1	CACNA1H	16	1260601	Missense_Mutation	SNP	G	TCGA-KL-8345-01A-11D-2310-10		1260601	89094152	46	40000											
CORO7	79585	broad.mit.edu;mdanderson.org;bcgsc.ca	37	16	4445319	4445319	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr16:4445319C>T	ENST00000251166.4	-	7	731	c.586G>A	c.(586-588)Gac>Aac	p.D196N	CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.D196N|CORO7_ENST00000537233.2_Missense_Mutation_p.D178N|CORO7_ENST00000423908.2_Missense_Mutation_p.D28N|CORO7_ENST00000539968.1_5'UTR|CORO7_ENST00000574025.1_Missense_Mutation_p.D111N	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	196					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)			breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						GTTCTGGGGTCAAAGATCCGC	0.602																																																0													71	73	72					16																	4445319		2197	4300	6497	SO:0001583	missense	79585			AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"Coronins", "WD repeat domain containing"	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.586G>A	16.37:g.4445319C>T	ENSP00000251166:p.Asp196Asn		B4DFD6|B4DL18|I3L416|Q17RK4	Missense_Mutation	SNP	ENST00000251166.4	37	CCDS10513.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.325399	0.81580	.	.	ENSG00000103426	ENST00000251166;ENST00000537233;ENST00000423908	T;T	0.02158	4.42;4.42	4.17	4.17	0.49024	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.660420	0.15690	N	0.249481	T	0.07818	0.0196	L	0.45228	1.405	0.47123	D	0.999322	D;D;D;D	0.89917	1.0;0.999;0.997;1.0	D;D;D;D	0.91635	0.998;0.997;0.994;0.999	T	0.28235	-1.0050	10	0.49607	T	0.09	-25.4858	11.8635	0.52480	0.0:1.0:0.0:0.0	.	111;178;196;177	P57737-2;B4DFD6;P57737;B4DKU9	.;.;CORO7_HUMAN;.	N	196;111;28	ENSP00000251166:D196N;ENSP00000391530:D28N	ENSP00000251166:D196N	D	-	1	0	CORO7	4385320	1.000000	0.71417	0.998000	0.56505	0.840000	0.47671	3.870000	0.56070	2.135000	0.66039	0.563000	0.77884	GAC		0.602	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251628.2	NM_024535		T	4445319	C	T	4445319	3	4	714	1	0	0	0	0	1	0	0	0	3761	826	29	2	2279	2	CORO7	16	4445319	Missense_Mutation	SNP	C	TCGA-KL-8345-01A-11D-2310-10	3184718	4445319	85909434	47	40001											
KRT38	8687	mdanderson.org	37	17	39595539	39595539	+	Silent	SNP	A	A	G	rs117668654	byFrequency	TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr17:39595539A>G	ENST00000246646.3	-	3	647	c.648T>C	c.(646-648)gaT>gaC	p.D216D		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	216	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)				CCAGGGTCGCATCATCCAGGA	0.632													G|||	58	0.0115815	0.0008	0.0043	5008	,	,		17656	0.0278		0.0089	False		,,,				2504	0.0174															0													85	77	79					17																	39595539		2203	4300	6503	SO:0001819	synonymous_variant	8687			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.648T>C	17.37:g.39595539A>G			A2RRM5|Q6A164	Silent	SNP	ENST00000246646.3	37	CCDS11392.1																																																																																				0.632	KRT38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257307.2	NM_006771		G	39595539	A	G	39595539	2	3	714	1	0	0	0	0	0	0	0	1	8477	214	8	3		3	KRT38	17	39595539	Silent	SNP	A	TCGA-KL-8345-01A-11D-2310-10		39595539	41599671	48	40002											
SC65	10609	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	17	39963092	39963092	+	Missense_Mutation	SNP	C	C	G			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr17:39963092C>G	ENST00000355468.3	-	7	1568	c.1102G>C	c.(1102-1104)Gag>Cag	p.E368Q	LEPREL4_ENST00000393928.1_Missense_Mutation_p.E368Q			Q92791	SC65_HUMAN	leprecan-like 4	368	Asp/Glu-rich (acidic).				synaptonemal complex assembly (GO:0007130)	condensed nuclear chromosome (GO:0000794)|nucleolus (GO:0005730)|synaptonemal complex (GO:0000795)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						TCCAGCAGCTCCCGCAGCTCG	0.592																																																0													62	52	56					17																	39963092		2203	4300	6503	SO:0001583	missense	10609			BC001047	CCDS11408.1	17q12	2013-05-03	2002-08-29		ENSG00000141696	ENSG00000141696			16946	protein-coding gene	gene with protein product			"nucleolar autoantigen (55kD)", "rat synaptonemal complex protein"			8862517	Standard	NM_006455		Approved	SC65, NO55	uc002hxt.3	Q92791	OTTHUMG00000133501	ENST00000355468.3:c.1102G>C	17.37:g.39963092C>G	ENSP00000347649:p.Glu368Gln		Q53GI6|Q9H4F6	Missense_Mutation	SNP	ENST00000355468.3	37	CCDS11408.1	.	.	.	.	.	.	.	.	.	.	C	19.65	3.867921	0.72065	.	.	ENSG00000141696	ENST00000355468;ENST00000393928;ENST00000545545	T;T	0.39787	1.06;1.06	5.36	4.37	0.52481	.	0.000000	0.85682	D	0.000000	T	0.44519	0.1297	L	0.55017	1.72	0.46701	D	0.999167	P;B	0.41450	0.75;0.312	B;B	0.43809	0.432;0.103	T	0.39014	-0.9634	10	0.42905	T	0.14	-23.401	14.5908	0.68362	0.0:0.8527:0.1473:0.0	.	357;368	B4DVZ5;Q92791	.;SC65_HUMAN	Q	368;368;357	ENSP00000347649:E368Q;ENSP00000377505:E368Q	ENSP00000347649:E368Q	E	-	1	0	LEPREL4	37216618	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	1.102000	0.31050	1.218000	0.43458	0.609000	0.83330	GAG		0.592	LEPREL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257439.2			G	39963092	C	G	39963092	3	3	714	1	0	0	0	0	1	0	0	0	13873	864	30	4	223	4	SC65	17	39963092	Missense_Mutation	SNP	C	TCGA-KL-8345-01A-11D-2310-10	367553	39963092	41232118	49	40003											
BPTF	2186	hgsc.bcm.edu;bcgsc.ca	37	17	65908787	65908787	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr17:65908787C>T	ENST00000321892.4	+	13	5226	c.5165C>T	c.(5164-5166)gCc>gTc	p.A1722V	BPTF_ENST00000335221.5_Missense_Mutation_p.A1722V|BPTF_ENST00000306378.6_Missense_Mutation_p.A1596V|BPTF_ENST00000424123.3_Missense_Mutation_p.A1583V			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1722	Thr-rich.				anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TCCACAGTGGCCACAGAATCA	0.408																																																0													83	83	83					17																	65908787		2203	4300	6503	SO:0001583	missense	2186			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"Zinc fingers, PHD-type"	3581	protein-coding gene	gene with protein product		601819	"fetal Alzheimer antigen"	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.5165C>T	17.37:g.65908787C>T	ENSP00000315454:p.Ala1722Val		Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37		.	.	.	.	.	.	.	.	.	.	C	14.36	2.511205	0.44660	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	T;T;T	0.63580	-0.05;-0.05;-0.05	5.47	5.47	0.80525	.	.	.	.	.	T	0.68696	0.3029	N	0.24115	0.695	0.28907	N	0.892942	D;D	0.69078	0.995;0.997	P;D	0.66196	0.871;0.942	T	0.66540	-0.5898	9	0.72032	D	0.01	-10.0118	17.8666	0.88796	0.0:1.0:0.0:0.0	.	1596;1722	Q12830-2;Q12830-4	.;.	V	1596;1722;1722	ENSP00000307208:A1596V;ENSP00000334351:A1722V;ENSP00000315454:A1722V	ENSP00000307208:A1596V	A	+	2	0	BPTF	63339249	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	5.725000	0.68507	2.728000	0.93425	0.650000	0.86243	GCC		0.408	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		T	65908787	C	T	65908787	3	4	714	1	0	0	0	0	1	0	0	0	1497	739	26	2	5215	2	BPTF	17	65908787	Missense_Mutation	SNP	C	TCGA-KL-8345-01A-11D-2310-10	25945695	65908787	15286423	50	40004											
SSTR2	6752	broad.mit.edu	37	17	71165682	71165682	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr17:71165682A>G	ENST00000357585.2	+	2	593	c.224A>G	c.(223-225)aAg>aGg	p.K75R	RP11-143K11.5_ENST00000580671.1_RNA|SSTR2_ENST00000315332.2_Missense_Mutation_p.K75R	NM_001050.2	NP_001041.1	P30874	SSR2_HUMAN	somatostatin receptor 2	75					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|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)|negative regulation of cell proliferation (GO:0008285)|peristalsis (GO:0030432)|regulation of muscle contraction (GO:0006937)|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)	PDZ domain binding (GO:0030165)|somatostatin receptor activity (GO:0004994)			endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)		Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	GCCAAGATGAAGACCATCACC	0.488																																																0													251	202	219					17																	71165682		2203	4300	6503	SO:0001583	missense	6752				CCDS11691.1	17q24	2012-08-08				ENSG00000180616		"GPCR / Class A : Somatostatin receptors"	11331	protein-coding gene	gene with protein product		182452				8449518	Standard	NM_001050		Approved		uc002jje.3	P30874		ENST00000357585.2:c.224A>G	17.37:g.71165682A>G	ENSP00000350198:p.Lys75Arg		A8K3Y0|B2R9P7|Q4VBP0|Q96GE0|Q96TF2|Q9BWH1	Missense_Mutation	SNP	ENST00000357585.2	37	CCDS11691.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.323068	0.81580	.	.	ENSG00000180616	ENST00000357585;ENST00000315332	T;T	0.33438	1.41;1.41	5.78	5.78	0.91487	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.46483	0.1395	L	0.38838	1.175	0.80722	D	1	D	0.67145	0.996	D	0.72338	0.977	T	0.42632	-0.9440	10	0.62326	D	0.03	.	15.7807	0.78257	1.0:0.0:0.0:0.0	.	75	P30874	SSR2_HUMAN	R	75	ENSP00000350198:K75R;ENSP00000326616:K75R	ENSP00000326616:K75R	K	+	2	0	SSTR2	68677277	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.335000	0.96500	2.204000	0.70986	0.528000	0.53228	AAG		0.488	SSTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441633.1			G	71165682	A	G	71165682	3	3	714	1	0	0	0	0	1	0	0	0	15203	72	3	3	226	3	SSTR2	17	71165682	Missense_Mutation	SNP	A	TCGA-KL-8345-01A-11D-2310-10	5256895	71165682	10029528	51	40005											
CXXC1	30827	broad.mit.edu;mdanderson.org;bcgsc.ca	37	18	47812501	47812501	+	Missense_Mutation	SNP	T	T	G			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr18:47812501T>G	ENST00000285106.6	-	4	1064	c.350A>C	c.(349-351)gAc>gCc	p.D117A	CXXC1_ENST00000412036.2_Missense_Mutation_p.D117A|CXXC1_ENST00000587396.1_5'Flank|CXXC1_ENST00000589940.1_Missense_Mutation_p.D117A	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	117				D -> N (in Ref. 1; AAF37799). {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)|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						GCGCTGCAGGTCTGGATCAGG	0.662																																																0													69	79	76					18																	47812501		2203	4300	6503	SO:0001583	missense	30827			BC014940	CCDS11945.1, CCDS45866.1	18q12	2014-02-20	2014-02-20		ENSG00000154832	ENSG00000154832		"Zinc fingers, PHD-type"	24343	protein-coding gene	gene with protein product	"CpG binding protein", "DNA-binding protein with PHD finger and CXXC domain", "zinc finger, CpG binding-type containing 1"	609150	"CXXC finger 1 (PHD domain)"			10799292, 10688657	Standard	NM_014593		Approved	HsT2645, PCCX1, hCGBP, PHF18, CGBP, SPP1, CFP1, ZCGPC1	uc002ler.4	Q9P0U4	OTTHUMG00000132670	ENST00000285106.6:c.350A>C	18.37:g.47812501T>G	ENSP00000285106:p.Asp117Ala		B2RC03|Q8N2W4|Q96BC8|Q9P2V7	Missense_Mutation	SNP	ENST00000285106.6	37	CCDS11945.1	.	.	.	.	.	.	.	.	.	.	T	1.870	-0.460559	0.04508	.	.	ENSG00000154832	ENST00000285106;ENST00000412036	T;T	0.21734	1.99;1.99	3.62	2.31	0.28768	.	0.645728	0.15896	N	0.239283	T	0.07143	0.0181	N	0.03608	-0.345	0.27244	N	0.959062	B;B;B;B	0.10296	0.003;0.0;0.001;0.0	B;B;B;B	0.04013	0.001;0.0;0.001;0.0	T	0.36601	-0.9741	10	0.10636	T	0.68	-7.7695	6.2987	0.21101	0.0:0.0:0.2571:0.7428	.	117;117;117;117	B4DGL1;B2RC03;Q9P0U4-2;Q9P0U4	.;.;.;CXXC1_HUMAN	A	117	ENSP00000285106:D117A;ENSP00000390475:D117A	ENSP00000285106:D117A	D	-	2	0	CXXC1	46066499	0.817000	0.29147	0.994000	0.49952	0.808000	0.45660	1.338000	0.33873	1.621000	0.50320	0.443000	0.29094	GAC		0.662	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255927.2	NM_014593		G	47812501	T	G	47812501	3	3	714	1	0	0	0	0	1	0	0	0	4099	1667	58	5	1680	5	CXXC1	18	47812501	Missense_Mutation	SNP	T	TCGA-KL-8345-01A-11D-2310-10		47812501	30264747	52	40006											
MUC16	94025	broad.mit.edu	37	19	9068199	9068199	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr19:9068199T>C	ENST00000397910.4	-	3	19450	c.19247A>G	c.(19246-19248)aAg>aGg	p.K6416R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6418	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						CATTGTGGGCTTTTCAGTGCC	0.488																																																0													197	199	198					19																	9068199		2039	4182	6221	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.19247A>G	19.37:g.9068199T>C	ENSP00000381008:p.Lys6416Arg		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	4.954	0.177185	0.09443	.	.	ENSG00000181143	ENST00000397910	T	0.02552	4.25	2.15	-0.166	0.13351	.	.	.	.	.	T	0.01558	0.0050	N	0.08118	0	.	.	.	B	0.06786	0.001	B	0.04013	0.001	T	0.44174	-0.9345	8	0.87932	D	0	.	2.7232	0.05206	0.0:0.1679:0.2728:0.5592	.	6416	B5ME49	.	R	6416	ENSP00000381008:K6416R	ENSP00000381008:K6416R	K	-	2	0	MUC16	8929199	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.030000	0.13688	-0.106000	0.12110	0.149000	0.16113	AAG		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		C	9068199	T	C	9068199	3	2	714	1	0	0	0	0	1	0	0	0	9975	1609	56	3	24604	3	MUC16	19	9068199	Missense_Mutation	SNP	T	TCGA-KL-8345-01A-11D-2310-10		9068199	50060784	53	40007											
MAG	4099	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	35800935	35800935	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr19:35800935G>T	ENST00000392213.3	+	8	1549	c.1390G>T	c.(1390-1392)Gag>Tag	p.E464*	MAG_ENST00000593348.1_3'UTR|MAG_ENST00000537831.2_Nonsense_Mutation_p.E439*|MAG_ENST00000361922.4_Nonsense_Mutation_p.E464*	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	464	Ig-like C2-type 4.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CGTGTACTCGGAGCGCAGCGG	0.677																																																0													66	59	61					19																	35800935		2203	4300	6503	SO:0001587	stop_gained	4099			M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6783	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 4A"	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.1390G>T	19.37:g.35800935G>T	ENSP00000376048:p.Glu464*		B7Z2E5|F5GYC0|Q567S4	Nonsense_Mutation	SNP	ENST00000392213.3	37	CCDS12455.1	.	.	.	.	.	.	.	.	.	.	G	38	7.158199	0.98103	.	.	ENSG00000105695	ENST00000262624;ENST00000361922;ENST00000392213;ENST00000537831	.	.	.	4.8	4.8	0.61643	.	0.111838	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	11.1222	0.48298	0.0:0.1867:0.8133:0.0	.	.	.	.	X	501;464;464;439	.	ENSP00000262624:E501X	E	+	1	0	MAG	40492775	0.973000	0.33851	0.993000	0.49108	0.982000	0.71751	1.922000	0.40045	2.497000	0.84241	0.462000	0.41574	GAG		0.677	MAG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466071.1	NM_080600		T	35800935	G	T	35800935	4	4	714	1	0	0	0	0	0	1	0	0	9164	1175	41	4	1412	4	MAG	19	35800935	Nonsense_Mutation	SNP	G	TCGA-KL-8345-01A-11D-2310-10	26732736	35800935	23328048	54	40008											
DSCAM	1826	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	21	41514495	41514495	+	Silent	SNP	G	G	A			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr21:41514495G>A	ENST00000400454.1	-	18	3873	c.3396C>T	c.(3394-3396)ctC>ctT	p.L1132L		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1132	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)		p.L1132L(1)		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)				CTCCGTCCATGAGGTTGGCCC	0.478																																					Melanoma(134;970 1778 1785 21664 32388)											1	Substitution - coding silent(1)	lung(1)											113	106	108					21																	41514495		1881	4103	5984	SO:0001819	synonymous_variant	1826			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.3396C>T	21.37:g.41514495G>A			O60468	Silent	SNP	ENST00000400454.1	37	CCDS42929.1																																																																																				0.478	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		A	41514495	G	A	41514495	2	1	714	1	0	0	0	0	0	0	0	1	4770	1277	45	2		2	DSCAM	21	41514495	Silent	SNP	G	TCGA-KL-8345-01A-11D-2310-10		41514495	6615400	55	40009											
GAB4	128954	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	22	17443634	17443634	+	Missense_Mutation	SNP	C	C	T	rs373667129		TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr22:17443634C>T	ENST00000400588.1	-	10	1821	c.1714G>A	c.(1714-1716)Gcc>Acc	p.A572T		NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	572										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				CACAGCTTGGCGCCCCTGGGA	0.597																																																0								C	THR/ALA	0,4378		0,0,2189	43	49	47		1714	1.4	0.3	22		47	1,8591	1.2+/-3.3	0,1,4295	no	missense	GAB4	NM_001037814.1	58	0,1,6484	TT,TC,CC		0.0116,0.0,0.0077	benign	572/575	17443634	1,12969	2189	4296	6485	SO:0001583	missense	128954			AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568		"Pleckstrin homology (PH) domain containing"	18325	protein-coding gene	gene with protein product							Standard	NM_001037814		Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.1714G>A	22.37:g.17443634C>T	ENSP00000383431:p.Ala572Thr			Missense_Mutation	SNP	ENST00000400588.1	37	CCDS42976.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.478810	0.44044	0.0	1.16E-4	ENSG00000215568	ENST00000400588	T	0.24908	1.83	2.46	1.38	0.22167	.	0.295957	0.37715	N	0.001974	T	0.10337	0.0253	N	0.16903	0.455	0.22354	N	0.999175	B	0.30709	0.291	B	0.15484	0.013	T	0.14392	-1.0474	10	0.38643	T	0.18	.	2.9911	0.05983	0.2728:0.5738:0.0:0.1533	.	572	Q2WGN9	GAB4_HUMAN	T	572	ENSP00000383431:A572T	ENSP00000383431:A572T	A	-	1	0	GAB4	15823634	0.341000	0.24801	0.270000	0.24601	0.000000	0.00434	0.794000	0.26958	0.552000	0.29026	-0.399000	0.06403	GCC		0.597	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315426.1	XM_372882		T	17443634	C	T	17443634	3	4	714	1	0	0	0	0	1	0	0	0	6153	768	27	1	14	1	GAB4	22	17443634	Missense_Mutation	SNP	C	TCGA-KL-8345-01A-11D-2310-10		17443634	33860932	56	40010											
ARVCF	421	ucsc.edu	37	22	19967489	19967489	+	Silent	SNP	A	A	G			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr22:19967489A>G	ENST00000263207.3	-	6	1464	c.1173T>C	c.(1171-1173)ggT>ggC	p.G391G	ARVCF_ENST00000406522.1_Silent_p.G328G|ARVCF_ENST00000406259.1_Silent_p.G391G|ARVCF_ENST00000401994.1_Silent_p.G328G|ARVCF_ENST00000344269.3_Silent_p.G328G|ARVCF_ENST00000487793.1_5'Flank	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	391					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)					GCCGCTTGACACCCTCGTTCT	0.697																																																0													19	18	18					22																	19967489		2185	4281	6466	SO:0001819	synonymous_variant	421				CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"Armadillo repeat containing"	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.1173T>C	22.37:g.19967489A>G			B7WNV2	Silent	SNP	ENST00000263207.3	37	CCDS13771.1																																																																																				0.697	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075314.5	NM_001670		G	19967489	A	G	19967489	2	3	714	1	0	0	0	0	0	0	0	1	1003	146	6	3		3	ARVCF	22	19967489	Silent	SNP	A	TCGA-KL-8345-01A-11D-2310-10	2523855	19967489	31337077	57	40011											
CSF2RB	1439	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	22	37333576	37333576	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr22:37333576G>A	ENST00000403662.3	+	14	1948	c.1726G>A	c.(1726-1728)Gcc>Acc	p.A576T	CSF2RB_ENST00000536485.1_Missense_Mutation_p.A523T|CSF2RB_ENST00000262825.5_Missense_Mutation_p.A582T|CSF2RB_ENST00000406230.1_Missense_Mutation_p.A582T			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	576					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)	CCCGCCTGCCGCCTCCCACAC	0.652																																																0													20	23	22					22																	37333576		2202	4298	6500	SO:0001583	missense	1439			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.1726G>A	22.37:g.37333576G>A	ENSP00000384053:p.Ala576Thr		Q5JZI1|Q6ICE0	Missense_Mutation	SNP	ENST00000403662.3	37	CCDS13936.1	.	.	.	.	.	.	.	.	.	.	G	2.785	-0.252666	0.05829	.	.	ENSG00000100368	ENST00000403662;ENST00000539104;ENST00000262825;ENST00000406230;ENST00000536485	D;D;D;D	0.91180	-2.29;-2.8;-2.8;-2.8	5.36	-0.629	0.11533	.	1.749050	0.03156	N	0.168694	T	0.80934	0.4719	N	0.22421	0.69	0.09310	N	1	B;B	0.12630	0.001;0.006	B;B	0.06405	0.002;0.001	T	0.65833	-0.6072	10	0.09843	T	0.71	.	3.4684	0.07558	0.1302:0.492:0.227:0.1508	.	582;576	P32927-2;P32927	.;IL3RB_HUMAN	T	576;576;582;582;523	ENSP00000384053:A576T;ENSP00000262825:A582T;ENSP00000385271:A582T;ENSP00000440003:A523T	ENSP00000262825:A582T	A	+	1	0	CSF2RB	35663522	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.521000	0.06245	-0.555000	0.06142	-2.506000	0.00189	GCC		0.652	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318854.1	NM_000395		A	37333576	G	A	37333576	3	1	714	1	0	0	0	0	1	0	0	0	3937	1087	38	1	1776	1	CSF2RB	22	37333576	Missense_Mutation	SNP	G	TCGA-KL-8345-01A-11D-2310-10	17366087	37333576	13970990	58	40012											
CELSR1	9620	broad.mit.edu;mdanderson.org	37	22	46763729	46763729	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr22:46763729A>G	ENST00000262738.3	-	28	7975	c.7976T>C	c.(7975-7977)cTc>cCc	p.L2659P		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2659	Poly-Leu.				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)		CAGCAGCAGGAGGAATGCGGT	0.642											OREG0026655	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													37	33	35					22																	46763729		2199	4299	6498	SO:0001583	missense	9620			AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.7976T>C	22.37:g.46763729A>G	ENSP00000262738:p.Leu2659Pro	941	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	a	24.5	4.535840	0.85812	.	.	ENSG00000075275	ENST00000262738	T	0.37915	1.17	4.76	4.76	0.60689	GPCR, family 2-like (1);	0.103749	0.39834	U	0.001258	T	0.61999	0.2392	M	0.83953	2.67	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	T	0.68164	-0.5481	10	0.62326	D	0.03	.	13.9897	0.64357	1.0:0.0:0.0:0.0	.	2659	Q9NYQ6	CELR1_HUMAN	P	2659	ENSP00000262738:L2659P	ENSP00000262738:L2659P	L	-	2	0	CELSR1	45142393	1.000000	0.71417	0.993000	0.49108	0.987000	0.75469	6.859000	0.75467	1.778000	0.52293	0.463000	0.42550	CTC		0.642	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		G	46763729	A	G	46763729	3	3	714	1	0	0	0	0	1	0	0	0	3223	304	11	3	1100	3	CELSR1	22	46763729	Missense_Mutation	SNP	A	TCGA-KL-8345-01A-11D-2310-10	9430153	46763729	4540837	59	40013											
SH3KBP1	30011	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	X	19854348	19854348	+	Silent	SNP	C	C	T			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chrX:19854348C>T	ENST00000397821.3	-	2	347	c.57G>A	c.(55-57)acG>acA	p.T19T	SH3KBP1_ENST00000379697.3_Silent_p.T19T	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	19	SH3 1. {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						CCACGCTGATCGTCAGCTCAT	0.512																																																0													201	155	171					X																	19854348		2203	4300	6503	SO:0001819	synonymous_variant	30011			AF230904	CCDS14193.1, CCDS35213.1, CCDS55383.1	Xp22.1-p21.3	2008-02-05			ENSG00000147010	ENSG00000147010			13867	protein-coding gene	gene with protein product		300374				8889549, 7566098	Standard	NM_031892		Approved	CIN85	uc004czm.3	Q96B97	OTTHUMG00000021227	ENST00000397821.3:c.57G>A	X.37:g.19854348C>T			B7Z1D5|Q5JPT4|Q5JPT5|Q8IWX6|Q8IX98|Q96RN4|Q9NYR0	Silent	SNP	ENST00000397821.3	37	CCDS14193.1																																																																																				0.512	SH3KBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055992.1	NM_031892		T	19854348	C	T	19854348	2	4	714	1	0	0	0	0	0	0	0	1	14261	871	31	1		1	SH3KBP1	23	19854348	Silent	SNP	C	TCGA-KL-8345-01A-11D-2310-10		19854348	135416212	60	40014											
KDM5C	8242	broad.mit.edu;mdanderson.org	37	X	53239928	53239928	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chrX:53239928C>T	ENST00000375401.3	-	11	2045	c.1513G>A	c.(1513-1515)Ggc>Agc	p.G505S	KDM5C_ENST00000452825.3_Missense_Mutation_p.G438S|KDM5C-IT1_ENST00000412242.1_RNA|KDM5C_ENST00000465402.1_5'Flank|KDM5C_ENST00000375383.3_Missense_Mutation_p.G464S|KDM5C_ENST00000404049.3_Missense_Mutation_p.G504S|KDM5C_ENST00000375379.3_Missense_Mutation_p.G505S	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	505	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				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						AAGACCATGCCCACGTAGAGC	0.522			"N, F, S"		clear cell renal carcinoma																																		Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	0													167	110	129					X																	53239928		2203	4300	6503	SO:0001583	missense	8242			Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	11114	protein-coding gene	gene with protein product		314690	"Jumonji, AT rich interactive domain 1C (RBP2-like)", "Smcy homolog, X-linked (mouse)", "jumonji, AT rich interactive domain 1C", "mental retardation, X-linked 13"	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.1513G>A	X.37:g.53239928C>T	ENSP00000364550:p.Gly505Ser		B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Missense_Mutation	SNP	ENST00000375401.3	37	CCDS14351.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.778962	0.90195	.	.	ENSG00000126012	ENST00000452825;ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	T;T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99;-0.99	5.42	5.42	0.78866	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.000000	0.85682	D	0.000000	D	0.89873	0.6841	H	0.94183	3.505	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	0.92637	0.6121	10	0.87932	D	0	-17.5819	15.4991	0.75680	0.0:1.0:0.0:0.0	.	438;504;505	F5H3T1;B0QZ44;P41229	.;.;KDM5C_HUMAN	S	438;505;504;505;464	ENSP00000445176:G438S;ENSP00000364550:G505S;ENSP00000385394:G504S;ENSP00000364528:G505S;ENSP00000364532:G464S	ENSP00000364528:G505S	G	-	1	0	KDM5C	53256653	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.784000	0.85713	2.252000	0.74401	0.600000	0.82982	GGC		0.522	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187		T	53239928	C	T	53239928	3	4	714	1	0	0	0	0	1	0	0	0	8137	623	22	2	3331	2	KDM5C	23	53239928	Missense_Mutation	SNP	C	TCGA-KL-8345-01A-11D-2310-10	33385580	53239928	102030632	61	40015											
TAF1	6872	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	X	70627428	70627428	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chrX:70627428C>T	ENST00000373790.4	+	27	4160	c.4109C>T	c.(4108-4110)cCt>cTt	p.P1370L	TAF1_ENST00000449580.1_Missense_Mutation_p.P1370L|TAF1_ENST00000423759.1_Missense_Mutation_p.P1391L|TAF1_ENST00000276072.3_Missense_Mutation_p.P1391L	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	1370	Interaction with ASF1A and ASF1B.				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)				CCTTAGAGACCTCATAAGTCC	0.468																																																0													85	77	80					X																	70627428		2203	4300	6503	SO:0001583	missense	6872				CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"Chromatin-modifying enzymes / K-acetyltransferases"	11535	protein-coding gene	gene with protein product		313650	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD", "dystonia 3 (with Parkinsonism)"	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.4109C>T	X.37:g.70627428C>T	ENSP00000362895:p.Pro1370Leu		A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	CCDS35325.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	20.6|20.6	4.021085|4.021085	0.75275|0.75275	.|.	.|.	ENSG00000147133|ENSG00000147133	ENST00000463163;ENST00000437147|ENST00000373790;ENST00000449580;ENST00000423759;ENST00000395779;ENST00000538124;ENST00000276072	.|T;T;T;T	.|0.19532	.|2.14;2.14;2.14;2.14	4.95|4.95	4.95|4.95	0.65309|0.65309	.|Bromodomain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.20007|0.20007	0.0481|0.0481	L|L	0.61218|0.61218	1.895|1.895	0.80722|0.80722	D|D	1|1	.|B;P;B	.|0.45715	.|0.002;0.865;0.007	.|B;B;B	.|0.34722	.|0.002;0.188;0.008	T|T	0.12682|0.12682	-1.0538|-1.0538	5|10	.|0.11485	.|T	.|0.65	.|.	17.4533|17.4533	0.87599|0.87599	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1370;1370;1391	.|P21675-4;P21675;P21675-2	.|.;TAF1_HUMAN;.	F|L	36;25|1370;1370;1391;76;76;1391	.|ENSP00000362895:P1370L;ENSP00000389000:P1370L;ENSP00000406549:P1391L;ENSP00000276072:P1391L	.|ENSP00000276072:P1391L	L|P	+|+	1|2	0|0	TAF1|TAF1	70544153|70544153	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.750000|0.750000	0.42670|0.42670	7.317000|7.317000	0.79018|0.79018	2.305000|2.305000	0.77605|0.77605	0.462000|0.462000	0.41574|0.41574	CTC|CCT		0.468	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		T	70627428	C	T	70627428	3	4	714	1	0	0	0	0	1	0	0	0	15518	681	24	2	4278	2	TAF1	23	70627428	Missense_Mutation	SNP	C	TCGA-KL-8345-01A-11D-2310-10	17387500	70627428	84643132	62	40016											
SLITRK2	84631	broad.mit.edu	37	X	144906354	144906354	+	Missense_Mutation	SNP	A	A	G	rs369952590		TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chrX:144906354A>G	ENST00000370490.1	+	1	6666	c.2411A>G	c.(2410-2412)tAt>tGt	p.Y804C	SLITRK2_ENST00000413937.2_Missense_Mutation_p.Y804C|SLITRK2_ENST00000428560.2_Missense_Mutation_p.Y804C|SLITRK2_ENST00000447897.2_Missense_Mutation_p.Y804C|TMEM257_ENST00000408967.2_5'Flank|SLITRK2_ENST00000434188.2_Missense_Mutation_p.Y804C			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	804					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)					ACCGTTTTATATGGAACTCCC	0.448																																																0								A	CYS/TYR,CYS/TYR,CYS/TYR,CYS/TYR,CYS/TYR,CYS/TYR,CYS/TYR,CYS/TYR	0,3835		0,0,0,1632,571	103	101	102		2411,2411,2411,2411,2411,2411,2411,2411	5.4	1	X		102	1,6727		0,0,1,2428,1871	no	missense,missense,missense,missense,missense,missense,missense,missense	SLITRK2	NM_001144003.2,NM_001144004.2,NM_001144005.2,NM_001144006.2,NM_001144008.2,NM_001144009.2,NM_001144010.2,NM_032539.4	194,194,194,194,194,194,194,194	0,0,1,4060,2442	GG,GA,G,AA,A		0.0149,0.0,0.0095	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	804/846,804/846,804/846,804/846,804/846,804/846,804/846,804/846	144906354	1,10562	2203	4300	6503	SO:0001583	missense	84631			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.2411A>G	X.37:g.144906354A>G	ENSP00000359521:p.Tyr804Cys		A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	ENST00000370490.1	37	CCDS14680.1	.	.	.	.	.	.	.	.	.	.	A	16.67	3.187848	0.57909	0.0	1.49E-4	ENSG00000185985	ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T	0.60040	0.22;0.22;0.22;0.22;0.22	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.72120	0.3421	M	0.61703	1.905	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.74746	-0.3561	10	0.66056	D	0.02	-6.9413	12.2755	0.54733	1.0:0.0:0.0:0.0	.	804	Q9H156	SLIK2_HUMAN	C	804	ENSP00000411681:Y804C;ENSP00000359521:Y804C;ENSP00000397015:Y804C;ENSP00000407347:Y804C;ENSP00000412010:Y804C	ENSP00000359521:Y804C	Y	+	2	0	SLITRK2	144714046	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.027000	0.76463	1.803000	0.52742	0.486000	0.48141	TAT		0.448	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		G	144906354	A	G	144906354	3	3	714	1	0	0	0	0	1	0	0	0	14749	449	16	3	2413	3	SLITRK2	23	144906354	Missense_Mutation	SNP	A	TCGA-KL-8345-01A-11D-2310-10	74278926	144906354	10364206	63	40017											
PRAMEF2	65122	mdanderson.org	37	1	12921594	12921594	+	Nonsense_Mutation	SNP	C	C	G	rs201429745	byFrequency	TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr1:12921594C>G	ENST00000240189.2	+	4	1472	c.1385C>G	c.(1384-1386)tCa>tGa	p.S462*		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	462					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)		TCCTGTGGCTCATCACCGTCT	0.557																																																0													28	34	32					1																	12921594		2001	4117	6118	SO:0001587	stop_gained	65122				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.1385C>G	1.37:g.12921594C>G	ENSP00000240189:p.Ser462*			Nonsense_Mutation	SNP	ENST00000240189.2	37	CCDS149.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.271531	0.40194	.	.	ENSG00000120952	ENST00000240189	.	.	.	0.741	0.741	0.18336	.	18.936500	0.00166	N	0.000000	.	.	.	.	.	.	0.20196	N	0.999925	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	4.7974	0.13279	0.0:1.0:0.0:0.0	.	.	.	.	X	462	.	ENSP00000240189:S462X	S	+	2	0	PRAMEF2	12844181	0.000000	0.05858	0.057000	0.19452	0.044000	0.14063	-2.662000	0.00850	0.683000	0.31428	0.173000	0.16961	TCA		0.557	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		G	12921594	C	G	12921594	4	3	715	1	0	0	0	0	0	1	0	0	12440	838	29	4	1395	4	PRAMEF2	1	12921594	Nonsense_Mutation	SNP	C	TCGA-KL-8346-01A-11D-2310-10		12921594	236329027	1	40018											
FAM131C	348487	mdanderson.org	37	1	16384986	16384986	+	Silent	SNP	G	G	T	rs28496958	byFrequency	TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr1:16384986G>T	ENST00000375662.4	-	7	972	c.789C>A	c.(787-789)ctC>ctA	p.L263L	FAM131C_ENST00000494078.1_5'UTR	NM_182623.2	NP_872429.2	Q96AQ9	F131C_HUMAN	family with sequence similarity 131, member C	263	Pro-rich.									large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		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;8.32e-08)|COAD - Colon adenocarcinoma(227;5.56e-06)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		CCATGGAGGGGAGGGAGCCCG	0.711																																																0													2	2	2					1																	16384986		1272	2832	4104	SO:0001819	synonymous_variant	348487				CCDS41270.1	1p36.13	2008-02-05	2007-03-20	2007-03-20	ENSG00000185519	ENSG00000185519			26717	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 117"	C1orf117		12477932	Standard	NM_182623		Approved	FLJ36766	uc001axz.4	Q96AQ9	OTTHUMG00000009525	ENST00000375662.4:c.789C>A	1.37:g.16384986G>T			Q5T5Q5|Q8N3X3|Q8N9P9	Silent	SNP	ENST00000375662.4	37	CCDS41270.1																																																																																				0.711	FAM131C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026319.1	NM_182623		T	16384986	G	T	16384986	2	4	715	1	0	0	0	0	0	0	0	1	5443	1161	41	4		4	FAM131C	1	16384986	Silent	SNP	G	TCGA-KL-8346-01A-11D-2310-10	3463392	16384986	232865635	2	40019											
NR0B2	8431	ucsc.edu	37	1	27240351	27240351	+	Silent	SNP	G	G	A			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr1:27240351G>A	ENST00000254227.3	-	1	106	c.81C>T	c.(79-81)tcC>tcT	p.S27S		NM_021969.2	NP_068804.1	Q15466	NR0B2_HUMAN	nuclear receptor subfamily 0, group B, member 2	27					cholesterol metabolic process (GO:0008203)|gene expression (GO:0010467)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ regeneration (GO:0031100)|positive regulation of insulin secretion (GO:0032024)|response to glucose (GO:0009749)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)			NS(1)|large_intestine(1)|lung(3)	5		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.01e-51)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|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)		CCTTGAGGCTGGAGCTCAGAA	0.657																																																0													43	44	44					1																	27240351		2203	4300	6503	SO:0001819	synonymous_variant	8431			AF044316	CCDS291.1	1p36.1	2013-01-16			ENSG00000131910	ENSG00000131910		"Nuclear hormone receptors"	7961	protein-coding gene	gene with protein product		604630				9603951	Standard	NM_021969		Approved	SHP	uc001bnf.3	Q15466	OTTHUMG00000004231	ENST00000254227.3:c.81C>T	1.37:g.27240351G>A			F1D8P5|Q5QP36	Silent	SNP	ENST00000254227.3	37	CCDS291.1																																																																																				0.657	NR0B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012185.1			A	27240351	G	A	27240351	2	1	715	1	0	0	0	0	0	0	0	1	10616	1335	47	2		2	NR0B2	1	27240351	Silent	SNP	G	TCGA-KL-8346-01A-11D-2310-10	10855365	27240351	222010270	3	40020											
COL16A1	1307	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	1	32148832	32148832	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr1:32148832C>T	ENST00000373672.3	-	36	2948	c.2432G>A	c.(2431-2433)cGg>cAg	p.R811Q	COL16A1_ENST00000271069.6_Missense_Mutation_p.R810Q|COL16A1_ENST00000373668.3_Missense_Mutation_p.R811Q	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	811	Collagen-like 4.|Triple-helical region 5 (COL5) with 3 imperfections.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		AGGTGGTCCCCGAGGTCCCGG	0.597																																					Colon(143;498 1786 21362 25193 36625)											0													89	98	95					1																	32148832		1927	4139	6066	SO:0001583	missense	1307			M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"Collagens"	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.2432G>A	1.37:g.32148832C>T	ENSP00000362776:p.Arg811Gln		Q16593|Q59F89|Q71RG9	Missense_Mutation	SNP	ENST00000373672.3	37	CCDS41297.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.768237	0.49680	.	.	ENSG00000084636	ENST00000373672;ENST00000271069;ENST00000458715;ENST00000373668	D;D;D;D	0.96011	-3.23;-3.88;-3.23;-3.23	5.53	0.00441	0.14058	.	0.283230	0.32753	N	0.005683	D	0.89808	0.6822	L	0.35723	1.085	0.30861	N	0.733544	B;B;B	0.19331	0.035;0.006;0.005	B;B;B	0.17722	0.019;0.005;0.003	T	0.80603	-0.1309	10	0.23891	T	0.37	.	8.9131	0.35565	0.0:0.5899:0.0:0.4101	.	811;811;811	A6NCT7;Q07092;Q07092-2	.;COGA1_HUMAN;.	Q	811;810;32;811	ENSP00000362776:R811Q;ENSP00000271069:R810Q;ENSP00000411457:R32Q;ENSP00000362772:R811Q	ENSP00000271069:R810Q	R	-	2	0	COL16A1	31921419	0.001000	0.12720	0.883000	0.34634	0.976000	0.68499	-0.316000	0.08071	-0.158000	0.11040	-0.251000	0.11542	CGG		0.597	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856		T	32148832	C	T	32148832	3	4	715	1	0	0	0	0	1	0	0	0	3675	652	23	1	2526	1	COL16A1	1	32148832	Missense_Mutation	SNP	C	TCGA-KL-8346-01A-11D-2310-10	4908481	32148832	217101789	4	40021											
TAL1	6886	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	1	47685621	47685621	+	Missense_Mutation	SNP	G	G	T			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr1:47685621G>T	ENST00000294339.3	-	4	1343	c.767C>A	c.(766-768)aCt>aAt	p.T256N	TAL1_ENST00000371884.2_Missense_Mutation_p.T256N|TAL1_ENST00000459729.1_5'UTR|TAL1_ENST00000371883.3_Missense_Mutation_p.T258N	NM_003189.2	NP_003180.1	P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	256					angiogenesis (GO:0001525)|astrocyte fate commitment (GO:0060018)|basophil differentiation (GO:0030221)|cell fate commitment (GO:0045165)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|hemangioblast cell differentiation (GO:0060217)|hematopoietic stem cell differentiation (GO:0060218)|hemopoiesis (GO:0030097)|locomotory behavior (GO:0007626)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|platelet formation (GO:0030220)|positive regulation of cell division (GO:0051781)|positive regulation of chromatin assembly or disassembly (GO:0045799)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell proliferation (GO:0042127)|regulation of mast cell differentiation (GO:0060375)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord association neuron differentiation (GO:0021527)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|E-box binding (GO:0070888)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|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 factor binding (GO:0001085)|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)			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						GTCCTTGCCAGTCTTGGCCCG	0.637			T	"TRD@, SIL"	lymphoblastic leukemia/biphasic																																		Dom	yes		1	1p32	6886	T-cell acute lymphocytic leukemia 1 (SCL)		L	0													14	14	14					1																	47685621		2203	4298	6501	SO:0001583	missense	6886			M29038	CCDS547.1	1p32	2013-05-21	2001-12-04		ENSG00000162367	ENSG00000162367		"Basic helix-loop-helix proteins"	11556	protein-coding gene	gene with protein product		187040		TCL5		2740341	Standard	NM_001287347		Approved	SCL, bHLHa17	uc009vyq.2	P17542	OTTHUMG00000007847	ENST00000294339.3:c.767C>A	1.37:g.47685621G>T	ENSP00000294339:p.Thr256Asn		D3DQ24	Missense_Mutation	SNP	ENST00000294339.3	37	CCDS547.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.441648	0.43326	.	.	ENSG00000162367	ENST00000371884;ENST00000371883;ENST00000294339	D;D;D	0.97505	-4.4;-4.41;-4.4	5.01	3.05	0.35203	Helix-loop-helix DNA-binding (1);	0.276657	0.31872	N	0.006936	D	0.88760	0.6524	N	0.08118	0	0.21652	N	0.9996	B	0.02656	0.0	B	0.01281	0.0	T	0.75172	-0.3411	10	0.18276	T	0.48	.	4.7753	0.13176	0.1479:0.4335:0.4186:0.0	.	256	P17542	TAL1_HUMAN	N	256;258;256	ENSP00000360951:T256N;ENSP00000360950:T258N;ENSP00000294339:T256N	ENSP00000294339:T256N	T	-	2	0	TAL1	47458208	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.222000	0.32515	2.607000	0.88179	0.579000	0.79373	ACT		0.637	TAL1-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021640.1	NM_003189		T	47685621	G	T	47685621	3	4	715	1	0	0	0	0	1	0	0	0	15546	1029	36	4	232	4	TAL1	1	47685621	Missense_Mutation	SNP	G	TCGA-KL-8346-01A-11D-2310-10	15536789	47685621	201565000	5	40022											
CELSR2	1952	ucsc.edu	37	1	109810544	109810544	+	Silent	SNP	C	C	A	rs2281894	byFrequency	TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr1:109810544C>A	ENST00000271332.3	+	17	6241	c.6180C>A	c.(6178-6180)cgC>cgA	p.R2060R		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2060					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)		TGCTCCTGCGCAACGCCACGC	0.677													C|||	1131	0.225839	0.0537	0.2205	5008	,	,		18633	0.4206		0.1928	False		,,,				2504	0.2955				NSCLC(158;1285 2011 34800 34852 42084)											0								C		313,4093	152.9+/-186.6	17,279,1907	29	29	29		6180	0.1	1	1	dbSNP_100	29	1603,6997	272.4+/-290.1	169,1265,2866	no	coding-synonymous	CELSR2	NM_001408.2		186,1544,4773	AA,AC,CC		18.6395,7.1039,14.7317		2060/2924	109810544	1916,11090	2203	4300	6503	SO:0001819	synonymous_variant	1952			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3231	protein-coding gene	gene with protein product		604265	"cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.6180C>A	1.37:g.109810544C>A			Q5T2Y7|Q92566	Silent	SNP	ENST00000271332.3	37	CCDS796.1																																																																																				0.677	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		A	109810544	C	A	109810544	2	1	715	1	0	0	0	0	0	0	0	1	3224	697	25	4		4	CELSR2	1	109810544	Silent	SNP	C	TCGA-KL-8346-01A-11D-2310-10	62124923	109810544	139440077	6	40023											
OR10K1	391109	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	1	158436256	158436256	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr1:158436256G>A	ENST00000289451.2	+	1	985	c.905G>A	c.(904-906)cGa>cAa	p.R302Q		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, 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)			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)					TCAGCCCTACGAAGAACAATC	0.373																																																0													95	92	93					1																	158436256		2203	4300	6503	SO:0001583	missense	391109			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.905G>A	1.37:g.158436256G>A	ENSP00000289451:p.Arg302Gln		Q6IFS2	Missense_Mutation	SNP	ENST00000289451.2	37	CCDS30897.1	.	.	.	.	.	.	.	.	.	.	g	10.79	1.449402	0.26074	.	.	ENSG00000173285	ENST00000289451	T	0.39406	1.08	4.24	-0.868	0.10652	.	1.305430	0.05653	N	0.585547	T	0.10809	0.0264	N	0.25957	0.775	0.09310	N	1	B	0.14438	0.01	B	0.04013	0.001	T	0.28996	-1.0026	10	0.41790	T	0.15	.	5.2439	0.15487	0.4324:0.142:0.4256:0.0	.	302	Q8NGX5	O10K1_HUMAN	Q	302	ENSP00000289451:R302Q	ENSP00000289451:R302Q	R	+	2	0	OR10K1	156702880	0.000000	0.05858	0.009000	0.14445	0.065000	0.16274	-0.882000	0.04174	-0.401000	0.07644	-0.232000	0.12228	CGA		0.373	OR10K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046367.1			A	158436256	G	A	158436256	3	1	715	1	0	0	0	0	1	0	0	0	10915	1058	37	1	907	1	OR10K1	1	158436256	Missense_Mutation	SNP	G	TCGA-KL-8346-01A-11D-2310-10	48625712	158436256	90814365	7	40024											
SPTA1	6708	broad.mit.edu	37	1	158647558	158647558	+	Silent	SNP	G	G	T			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr1:158647558G>T	ENST00000368147.4	-	7	1059	c.879C>A	c.(877-879)ggC>ggA	p.G293G		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	293					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)					CAAGGTCTTTGCCATAGTCCT	0.468																																																0													115	110	112					1																	158647558		1975	4161	6136	SO:0001819	synonymous_variant	6708			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.879C>A	1.37:g.158647558G>T			Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	CCDS41423.1																																																																																				0.468	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		T	158647558	G	T	158647558	2	4	715	1	0	0	0	0	0	0	0	1	15121	1306	46	4		4	SPTA1	1	158647558	Silent	SNP	G	TCGA-KL-8346-01A-11D-2310-10	211302	158647558	90603063	8	40025											
ASPM	259266	hgsc.bcm.edu	37	1	197073057	197073057	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr1:197073057T>C	ENST00000367409.4	-	18	5580	c.5324A>G	c.(5323-5325)tAt>tGt	p.Y1775C	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1775	IQ 7. {ECO:0000255|PROSITE- ProRule:PRU00116}.				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						AATTGCTTTATACATTTTCAG	0.363																																																0													87	89	88					1																	197073057		2203	4298	6501	SO:0001583	missense	259266			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.5324A>G	1.37:g.197073057T>C	ENSP00000356379:p.Tyr1775Cys		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	T	0.113	-1.136339	0.01742	.	.	ENSG00000066279	ENST00000367409	T	0.71698	-0.59	5.69	-1.82	0.07857	.	0.569487	0.18012	N	0.154506	T	0.52370	0.1730	L	0.28054	0.825	0.09310	N	1	B	0.24768	0.111	B	0.25884	0.064	T	0.31223	-0.9951	10	0.38643	T	0.18	.	9.3575	0.38175	0.0:0.2456:0.0912:0.6632	.	1775	Q8IZT6	ASPM_HUMAN	C	1775	ENSP00000356379:Y1775C	ENSP00000356379:Y1775C	Y	-	2	0	ASPM	195339680	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.723000	0.04952	-1.010000	0.03396	-1.463000	0.01021	TAT		0.363	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		C	197073057	T	C	197073057	3	2	715	1	0	0	0	0	1	0	0	0	1056	1406	49	3	5153	3	ASPM	1	197073057	Missense_Mutation	SNP	T	TCGA-KL-8346-01A-11D-2310-10	38425499	197073057	52177564	9	40026											
USH2A	7399	ucsc.edu	37	1	215916578	215916578	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr1:215916578A>G	ENST00000307340.3	-	59	11875	c.11489T>C	c.(11488-11490)cTt>cCt	p.L3830P	USH2A_ENST00000366943.2_Missense_Mutation_p.L3830P	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3830	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)		ATTTTCCAGAAGGGTGGATTG	0.433										HNSCC(13;0.011)																																						0													142	136	138					1																	215916578		2203	4300	6503	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.11489T>C	1.37:g.215916578A>G	ENSP00000305941:p.Leu3830Pro		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	A	11.48	1.652460	0.29336	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.57595	0.39;0.39	4.94	2.47	0.30058	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.870968	0.09479	N	0.796557	T	0.60457	0.2270	L	0.47716	1.5	0.18873	N	0.999988	D	0.61080	0.989	P	0.61070	0.883	T	0.46331	-0.9199	10	0.59425	D	0.04	.	7.8623	0.29517	0.7205:0.1387:0.0:0.1408	.	3830	O75445	USH2A_HUMAN	P	3830	ENSP00000305941:L3830P;ENSP00000355910:L3830P	ENSP00000305941:L3830P	L	-	2	0	USH2A	213983201	0.074000	0.21230	0.028000	0.17463	0.101000	0.19017	3.361000	0.52306	0.383000	0.24910	0.533000	0.62120	CTT		0.433	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		G	215916578	A	G	215916578	3	3	715	1	0	0	0	0	1	0	0	0	17041	72	3	3	4175	3	USH2A	1	215916578	Missense_Mutation	SNP	A	TCGA-KL-8346-01A-11D-2310-10	18843521	215916578	33334043	10	40027											
SLC4A5	57835	bcgsc.ca	37	2	74480132	74480132	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr2:74480132G>A	ENST00000377634.4	-	15	1636	c.1237C>T	c.(1237-1239)Ccc>Tcc	p.P413S	SLC4A5_ENST00000357822.5_Missense_Mutation_p.P413S|SLC4A5_ENST00000394019.2_Missense_Mutation_p.P413S|SLC4A5_ENST00000377632.1_Missense_Mutation_p.P413S|SLC4A5_ENST00000423644.1_Missense_Mutation_p.P413S|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000358683.4_Missense_Mutation_p.P349S|SLC4A5_ENST00000346834.4_Missense_Mutation_p.P413S|SLC4A5_ENST00000359484.4_Missense_Mutation_p.P349S|RP11-287D1.3_ENST00000451608.2_3'UTR					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						TTCTTGGGGGGCTCAATCCGG	0.493																																																0													69	67	67					2																	74480132		2203	4300	6503	SO:0001583	missense	57835			AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"Solute carriers"	18168	protein-coding gene	gene with protein product		606757	"solute carrier family 4, sodium bicarbonate cotransporter, member 5"			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.1237C>T	2.37:g.74480132G>A	ENSP00000366861:p.Pro413Ser			Missense_Mutation	SNP	ENST00000377634.4	37	CCDS1936.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.829499	0.90955	.	.	ENSG00000188687	ENST00000394019;ENST00000451608;ENST00000346834;ENST00000359484;ENST00000423644;ENST00000358683;ENST00000357822;ENST00000377632;ENST00000377634;ENST00000425249	T;T;T;T;T;T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35	5.4	5.4	0.78164	Bicarbonate transporter, cytoplasmic (1);Phosphotransferase/anion transporter (1);	0.000000	0.85682	D	0.000000	D	0.88926	0.6570	M	0.72894	2.215	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.998;0.997;1.0	D;D;D;D;D	0.91635	0.993;0.962;0.988;0.947;0.999	D	0.88751	0.3250	10	0.54805	T	0.06	.	16.7038	0.85366	0.0:0.0:1.0:0.0	.	413;413;349;413;413	Q9BY07-4;E7EQT3;Q9BY07-7;Q9BY07;Q9BY07-3	.;.;.;S4A5_HUMAN;.	S	413;413;413;349;413;349;413;413;413;413	ENSP00000377587:P413S;ENSP00000251768:P413S;ENSP00000352461:P349S;ENSP00000395804:P413S;ENSP00000351513:P349S;ENSP00000350475:P413S;ENSP00000366859:P413S;ENSP00000366861:P413S;ENSP00000405678:P413S	ENSP00000251768:P413S	P	-	1	0	SLC4A5	74333640	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	9.657000	0.98554	2.813000	0.96785	0.561000	0.74099	CCC		0.493	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206583.3			A	74480132	G	A	74480132	3	1	715	1	0	0	0	0	1	0	0	0	14663	1203	42	2	2244	2	SLC4A5	2	74480132	Missense_Mutation	SNP	G	TCGA-KL-8346-01A-11D-2310-10		74480132	168719241	11	40028											
STARD7	56910	broad.mit.edu	37	2	96861118	96861118	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr2:96861118G>A	ENST00000337288.5	-	2	843	c.460C>T	c.(460-462)Cgg>Tgg	p.R154W	STARD7_ENST00000462501.1_5'UTR	NM_020151.3	NP_064536.2	Q9NQZ5	STAR7_HUMAN	StAR-related lipid transfer (START) domain containing 7	154	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.					mitochondrion (GO:0005739)	lipid binding (GO:0008289)			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|stomach(2)	14						ATTGGGCGCCGCCACAGCTTA	0.498																																																0													111	86	94					2																	96861118		2203	4299	6502	SO:0001583	missense	56910			AF270647	CCDS2017.2	2p11.1	2011-09-12	2007-08-16		ENSG00000084090	ENSG00000084090		"StAR-related lipid transfer (START) domain containing"	18063	protein-coding gene	gene with protein product			"START domain containing 7"				Standard	NM_020151		Approved	GTT1	uc002svm.4	Q9NQZ5	OTTHUMG00000130457	ENST00000337288.5:c.460C>T	2.37:g.96861118G>A	ENSP00000338030:p.Arg154Trp		D3DXG9|Q53T44|Q6GU43|Q969M6	Missense_Mutation	SNP	ENST00000337288.5	37	CCDS2017.2	.	.	.	.	.	.	.	.	.	.	G	23.4	4.417117	0.83449	.	.	ENSG00000084090	ENST00000337288;ENST00000443962	T;T	0.27402	1.67;1.67	6.07	4.12	0.48240	Lipid-binding START (3);START-like domain (1);	0.059719	0.64402	D	0.000001	T	0.58524	0.2128	M	0.87381	2.88	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	T	0.65919	-0.6051	10	0.87932	D	0	-23.6645	11.5932	0.50957	0.0:0.0:0.524:0.476	.	154	Q9NQZ5	STAR7_HUMAN	W	154;53	ENSP00000338030:R154W;ENSP00000409410:R53W	ENSP00000338030:R154W	R	-	1	2	STARD7	96224845	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.193000	0.58385	1.567000	0.49668	-0.169000	0.13324	CGG		0.498	STARD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252848.2			A	96861118	G	A	96861118	3	1	715	1	0	0	0	0	1	0	0	0	15267	1086	38	1	680	1	STARD7	2	96861118	Missense_Mutation	SNP	G	TCGA-KL-8346-01A-11D-2310-10	22380986	96861118	146338255	12	40029											
IL1R2	7850	bcgsc.ca	37	2	102632493	102632493	+	Missense_Mutation	SNP	G	G	A	rs529315850		TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr2:102632493G>A	ENST00000332549.3	+	4	722	c.493G>A	c.(493-495)Gtg>Atg	p.V165M	IL1R2_ENST00000393414.2_Missense_Mutation_p.V165M|IL1R2_ENST00000441002.1_Missense_Mutation_p.V165M	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	165	Ig-like C2-type 2.				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						CAAAACTGACGTGAAGATTCA	0.373																																					Pancreas(106;189 1628 2302 5133 12295)											0													62	59	60					2																	102632493		2203	4300	6503	SO:0001583	missense	7850			X59770	CCDS2054.1, CCDS58719.1	2q12	2013-01-11			ENSG00000115590	ENSG00000115590		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5994	protein-coding gene	gene with protein product		147811		IL1RB		10191101, 1833184	Standard	NM_004633		Approved	CD121b	uc002tbm.3	P27930	OTTHUMG00000130695	ENST00000332549.3:c.493G>A	2.37:g.102632493G>A	ENSP00000330959:p.Val165Met		D3DVJ5|Q6LCE6|Q9UE68	Missense_Mutation	SNP	ENST00000332549.3	37	CCDS2054.1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.127830	0.37533	.	.	ENSG00000115590	ENST00000332549;ENST00000393414;ENST00000457817;ENST00000441002	T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15	5.53	-11.1	0.00147	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.398540	0.04271	N	0.342070	T	0.49150	0.1540	N	0.11201	0.11	0.09310	N	1	B	0.14012	0.009	B	0.09377	0.004	T	0.35992	-0.9766	10	0.33141	T	0.24	.	2.4708	0.04564	0.2547:0.3935:0.1081:0.2437	.	165	P27930	IL1R2_HUMAN	M	165	ENSP00000330959:V165M;ENSP00000377066:V165M;ENSP00000408415:V165M;ENSP00000414611:V165M	ENSP00000330959:V165M	V	+	1	0	IL1R2	101998925	0.000000	0.05858	0.000000	0.03702	0.983000	0.72400	-2.840000	0.00738	-2.238000	0.00712	-0.165000	0.13383	GTG		0.373	IL1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253191.1	NM_004633		A	102632493	G	A	102632493	3	1	715	1	0	0	0	0	1	0	0	0	7661	1145	40	1	503	1	IL1R2	2	102632493	Missense_Mutation	SNP	G	TCGA-KL-8346-01A-11D-2310-10	5771375	102632493	140566880	13	40030											
POTEE	445582	mdanderson.org	37	2	132021781	132021781	+	Missense_Mutation	SNP	A	A	T	rs553548999	byFrequency	TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr2:132021781A>T	ENST00000356920.5	+	15	2847	c.2753A>T	c.(2752-2754)tAt>tTt	p.Y918F	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	918	Actin-like.				retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											AAGCTGTGCTATGTTGCCCTG	0.592													.|||	2	0.000399361	0.0015	0.0	5008	,	,		40828	0.0		0.0	False		,,,				2504	0.0															0													88	96	94					2																	132021781		2202	4294	6496	SO:0001583	missense	445582			AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33895	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 2"	608914	"ANKRD26-like family C, member 1A"	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.2753A>T	2.37:g.132021781A>T	ENSP00000439189:p.Tyr918Phe		Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	15.13	2.742490	0.49151	.	.	ENSG00000188219	ENST00000356920	T	0.08984	3.03	.	.	.	.	.	.	.	.	T	0.09335	0.0230	M	0.75264	2.295	0.80722	D	1	B	0.33755	0.424	B	0.29524	0.103	T	0.09862	-1.0655	8	0.72032	D	0.01	.	4.5487	0.12098	0.9994:0.0:6.0E-4:0.0	.	918	Q6S8J3	POTEE_HUMAN	F	918	ENSP00000439189:Y918F	ENSP00000439189:Y918F	Y	+	2	0	AC131180.1	131738251	1.000000	0.71417	0.464000	0.27143	0.467000	0.32768	6.177000	0.71961	0.103000	0.17682	0.102000	0.15555	TAT		0.592	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		T	132021781	A	T	132021781	3	4	715	1	0	0	0	0	1	0	0	0	12266	449	16	5	2811	5	POTEE	2	132021781	Missense_Mutation	SNP	A	TCGA-KL-8346-01A-11D-2310-10	29389288	132021781	111177592	14	40031											
TTN	7273	broad.mit.edu	37	2	179639167	179639167	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr2:179639167T>C	ENST00000591111.1	-	30	7048	c.6824A>G	c.(6823-6825)gAc>gGc	p.D2275G	RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D2275G|TTN_ENST00000360870.5_Missense_Mutation_p.D2275G|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D2229G|TTN_ENST00000589042.1_Missense_Mutation_p.D2275G|TTN_ENST00000359218.5_Missense_Mutation_p.D2229G|TTN_ENST00000460472.2_Missense_Mutation_p.D2229G|TTN-AS1_ENST00000610005.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12598	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)			AACTTCTATGTCCTGAAGTTC	0.353																																																0													61	61	61					2																	179639167		2202	4300	6502	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.6824A>G	2.37:g.179639167T>C	ENSP00000465570:p.Asp2275Gly		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		.	.	.	.	.	.	.	.	.	.	T	12.35	1.912454	0.33721	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	5.6	5.6	0.85130	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.71091	0.3299	M	0.91768	3.24	0.29326	N	0.867009	P;P;P;P;D	0.65815	0.64;0.64;0.64;0.64;0.995	B;B;B;B;P	0.56163	0.334;0.334;0.334;0.334;0.793	T	0.74475	-0.3653	9	0.87932	D	0	.	15.7844	0.78291	0.0:0.0:0.0:1.0	.	2229;2229;2229;2275;2275	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	G	2275;2229;2229;2229;2229;2275	ENSP00000343764:D2275G;ENSP00000434586:D2229G;ENSP00000340554:D2229G;ENSP00000352154:D2229G;ENSP00000354117:D2275G	ENSP00000340554:D2229G	D	-	2	0	TTN	179347412	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.053000	0.64269	2.141000	0.66446	0.455000	0.32223	GAC		0.353	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		C	179639167	T	C	179639167	3	2	715	1	0	0	0	0	1	0	0	0	16740	1667	58	3	104496	3	TTN	2	179639167	Missense_Mutation	SNP	T	TCGA-KL-8346-01A-11D-2310-10	47617386	179639167	63560206	15	40032											
RAF1	5894	broad.mit.edu	37	3	12660138	12660138	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr3:12660138A>G	ENST00000251849.4	-	2	522	c.83T>C	c.(82-84)aTc>aCc	p.I28T	RAF1_ENST00000542177.1_5'UTR|RAF1_ENST00000442415.2_Missense_Mutation_p.I28T	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	Raf-1 proto-oncogene, serine/threonine kinase	28					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)	TGTAGGAGAGATGCAGCTGGA	0.463			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome																														Dom	yes		3	3p25	5894	v-raf-1 murine leukemia viral oncogene homolog 1		M	0													129	116	120					3																	12660138		2203	4300	6503	SO:0001583	missense	5894	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	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.83T>C	3.37:g.12660138A>G	ENSP00000251849:p.Ile28Thr		B0LPH8|B2R5N3|Q15278|Q9UC20	Missense_Mutation	SNP	ENST00000251849.4	37	CCDS2612.1	.	.	.	.	.	.	.	.	.	.	A	16.96	3.264954	0.59431	.	.	ENSG00000132155	ENST00000251849;ENST00000442415	T;T	0.75050	-0.9;-0.9	6.03	4.87	0.63330	.	0.155554	0.56097	N	0.000021	T	0.58438	0.2122	N	0.14661	0.345	0.80722	D	1	B	0.23937	0.094	B	0.16722	0.016	T	0.56823	-0.7915	10	0.72032	D	0.01	.	12.0181	0.53326	0.9329:0.0:0.0671:0.0	.	28	P04049	RAF1_HUMAN	T	28	ENSP00000251849:I28T;ENSP00000401888:I28T	ENSP00000251849:I28T	I	-	2	0	RAF1	12635138	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	5.751000	0.68720	1.099000	0.41499	0.533000	0.62120	ATC		0.463	RAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252015.2	NM_002880		G	12660138	A	G	12660138	3	3	715	1	0	0	0	0	1	0	0	0	13008	333	12	3	1927	3	RAF1	3	12660138	Missense_Mutation	SNP	A	TCGA-KL-8346-01A-11D-2310-10		12660138	185362292	16	40033											
TBC1D5	9779	broad.mit.edu	37	3	17415993	17415993	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr3:17415993C>T	ENST00000253692.7	-	12	2456	c.792G>A	c.(790-792)tgG>tgA	p.W264*	TBC1D5_ENST00000429924.2_Nonsense_Mutation_p.W216*|TBC1D5_ENST00000446818.2_Nonsense_Mutation_p.W264*|TBC1D5_ENST00000414318.2_Intron|TBC1D5_ENST00000429383.4_Nonsense_Mutation_p.W264*	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	264	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					retromer complex (GO:0030904)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						AAGTTGAAAACCAAGGTTCAG	0.299																																																0													66	66	66					3																	17415993		2202	4296	6498	SO:0001587	stop_gained	9779			D86965	CCDS33714.1, CCDS46770.1	3p24.3	2013-07-09			ENSG00000131374	ENSG00000131374			19166	protein-coding gene	gene with protein product		615740				19531583	Standard	NM_014744		Approved	KIAA0210	uc003cbe.3	Q92609	OTTHUMG00000155488	ENST00000253692.7:c.792G>A	3.37:g.17415993C>T	ENSP00000253692:p.Trp264*		A6NP25|C9JP52	Nonsense_Mutation	SNP	ENST00000253692.7	37	CCDS33714.1	.	.	.	.	.	.	.	.	.	.	C	38	7.260140	0.98171	.	.	ENSG00000131374	ENST00000253692;ENST00000429383;ENST00000446818;ENST00000429924	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.9065	19.6391	0.95749	0.0:1.0:0.0:0.0	.	.	.	.	X	264;264;264;216	.	ENSP00000253692:W264X	W	-	3	0	TBC1D5	17390997	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.344000	0.79328	2.715000	0.92844	0.655000	0.94253	TGG		0.299	TBC1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340301.3	NM_014744		T	17415993	C	T	17415993	4	4	715	1	0	0	0	0	0	1	0	0	15628	508	18	2	1709	2	TBC1D5	3	17415993	Nonsense_Mutation	SNP	C	TCGA-KL-8346-01A-11D-2310-10	4755855	17415993	180606437	17	40034											
TOP2B	7155	broad.mit.edu;hgsc.bcm.edu	37	3	25647566	25647570	+	Frame_Shift_Del	DEL	GAGAA	GAGAA	-			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	GAGAA	GAGAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr3:25647566_25647570delGAGAA	ENST00000264331.4	-	32	4341_4345	c.4342_4346delTTCTC	c.(4342-4347)ttctcafs	p.FS1448fs	TOP2B_ENST00000540199.1_Frame_Shift_Del_p.FS300fs|TOP2B_ENST00000435706.2_Frame_Shift_Del_p.FS1443fs|TOP2B_ENST00000542520.1_Frame_Shift_Del_p.FS300fs	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	1448					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)	TGAAGGAAATGAGAAGAGATTTCCA	0.298																																																0																																										SO:0001589	frameshift_variant	7155			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.4342_4346delTTCTC	3.37:g.25647566_25647570delGAGAA	ENSP00000264331:p.Phe1448fs		Q13600|Q9UMG8|Q9UQP8	Frame_Shift_Del	DEL	ENST00000264331.4	37																																																																																					0.298	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				-	25647570	GAGAA	-	25647566	7	5	715	1	0	1	0	1	0	0	0	0	16371	1294	45	0	554	0	TOP2B	3	25647566	Frame_Shift_Del	DEL	GAGAA	TCGA-KL-8346-01A-11D-2310-10	8231573	25647566	172374864	18	40035	342	2									
TOP2B	7155	bcgsc.ca	37	3	25647567	25647571	+	Frame_Shift_Del	DEL	GAGAA	GAGAA	-			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	GAGAA	GAGAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr3:25647567_25647571delGAGAA	ENST00000264331.4	-	32	4340_4344	c.4341_4345delTTCTC	c.(4339-4347)ctttctccafs	p.SP1448fs	TOP2B_ENST00000540199.1_Frame_Shift_Del_p.SP300fs|TOP2B_ENST00000435706.2_Frame_Shift_Del_p.SP1443fs|TOP2B_ENST00000542520.1_Frame_Shift_Del_p.SP300fs	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	1448					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)	GAAGGAAATGAGAAGAGATTTCCAA	0.302																																																0																																										SO:0001589	frameshift_variant	7155			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.4341_4345delTTCTC	3.37:g.25647567_25647571delGAGAA	ENSP00000264331:p.Ser1448fs		Q13600|Q9UMG8|Q9UQP8	Frame_Shift_Del	DEL	ENST00000264331.4	37																																																																																					0.302	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				-	25647571	GAGAA	-	25647567	7	5	715	1	0	1	0	1	0	0	0	0	16371	304	11	0	555	0	TOP2B	3	25647567	Frame_Shift_Del	DEL	GAGAA	TCGA-KL-8346-01A-11D-2310-10	1	25647567	172374863	19	40036	342	2									
ZNF35	7584	broad.mit.edu	37	3	44700856	44700856	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr3:44700856A>G	ENST00000396056.2	+	4	1236	c.1001A>G	c.(1000-1002)tAt>tGt	p.Y334C	ZNF35_ENST00000542250.1_Missense_Mutation_p.Y174C|ZNF35_ENST00000296092.3_3'UTR|RP11-944L7.4_ENST00000457331.1_RNA	NM_003420.3	NP_003411.3	P13682	ZNF35_HUMAN	zinc finger protein 35	334					cellular response to retinoic acid (GO:0071300)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cell (GO:0005623)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		GAAAAATGCTATGAATGTAAT	0.423																																																0													52	55	54					3																	44700856		2203	4300	6503	SO:0001583	missense	7584			X07289	CCDS2718.2	3p21.32	2013-01-08	2006-05-11		ENSG00000169981	ENSG00000169981		"Zinc fingers, C2H2-type"	13099	protein-coding gene	gene with protein product		194533	"zinc finger protein 35 (clone HF.10)"			2108922, 1572646	Standard	NM_003420		Approved	HF.10, HF10, Zfp105	uc003cnq.3	P13682	OTTHUMG00000133091	ENST00000396056.2:c.1001A>G	3.37:g.44700856A>G	ENSP00000379368:p.Tyr334Cys		B2RBU6|Q53Y54|Q96D01	Missense_Mutation	SNP	ENST00000396056.2	37	CCDS2718.2	.	.	.	.	.	.	.	.	.	.	A	15.11	2.737589	0.49045	.	.	ENSG00000169981	ENST00000396056;ENST00000542250	T;T	0.61392	0.11;0.11	5.1	3.87	0.44632	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42172	D	0.000754	T	0.74306	0.3699	M	0.83774	2.66	0.38106	D	0.937407	D	0.89917	1.0	D	0.91635	0.999	T	0.79090	-0.1946	10	0.72032	D	0.01	-17.2776	9.3454	0.38104	0.7633:0.0:0.0:0.2367	.	334	P13682	ZNF35_HUMAN	C	334;174	ENSP00000379368:Y334C;ENSP00000443714:Y174C	ENSP00000379368:Y334C	Y	+	2	0	ZNF35	44675860	0.057000	0.20700	1.000000	0.80357	0.994000	0.84299	0.716000	0.25836	2.279000	0.76181	0.533000	0.62120	TAT		0.423	ZNF35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256749.4	NM_003420		G	44700856	A	G	44700856	3	3	715	1	0	0	0	0	1	0	0	0	17867	449	16	3	1011	3	ZNF35	3	44700856	Missense_Mutation	SNP	A	TCGA-KL-8346-01A-11D-2310-10	19053289	44700856	153321574	20	40037											
CHRD	8646	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	3	184100469	184100469	+	Missense_Mutation	SNP	G	G	A	rs375530942		TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr3:184100469G>A	ENST00000204604.1	+	8	1135	c.889G>A	c.(889-891)Gta>Ata	p.V297I	CHRD_ENST00000545352.1_5'UTR|CHRD_ENST00000348986.3_Missense_Mutation_p.V297I|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000450923.1_Missense_Mutation_p.V297I	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	297	CHRD 2. {ECO:0000255|PROSITE- ProRule:PRU00230}.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ACAGCAGGGCGTAGGGGGCAT	0.597																																																0								G	ILE/VAL	0,4406		0,0,2203	67	73	71		889	0	0	3		71	1,8599	1.2+/-3.3	0,1,4299	no	missense	CHRD	NM_003741.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	297/956	184100469	1,13005	2203	4300	6503	SO:0001583	missense	8646			AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.889G>A	3.37:g.184100469G>A	ENSP00000204604:p.Val297Ile		O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Missense_Mutation	SNP	ENST00000204604.1	37	CCDS3266.1	.	.	.	.	.	.	.	.	.	.	G	2.523	-0.310254	0.05458	0.0	1.16E-4	ENSG00000090539	ENST00000204604;ENST00000450923;ENST00000348986	T;T;T	0.43688	0.94;0.94;0.94	5.01	0.0114	0.14087	CHRD (3);	0.610960	0.17266	N	0.180562	T	0.26268	0.0641	N	0.22421	0.69	0.09310	N	0.999998	B;B	0.11235	0.0;0.004	B;B	0.12156	0.005;0.007	T	0.17930	-1.0353	10	0.29301	T	0.29	3.3703	11.1063	0.48205	0.426:0.0:0.574:0.0	.	297;297	E7ESX1;Q9H2X0	.;CHRD_HUMAN	I	297	ENSP00000204604:V297I;ENSP00000408972:V297I;ENSP00000334036:V297I	ENSP00000204604:V297I	V	+	1	0	CHRD	185583163	0.000000	0.05858	0.005000	0.12908	0.270000	0.26580	1.059000	0.30517	-0.084000	0.12595	-1.119000	0.02030	GTA		0.597	CHRD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280432.1	NM_003741		A	184100469	G	A	184100469	3	1	715	1	0	0	0	0	1	0	0	0	3374	1145	40	1	919	1	CHRD	3	184100469	Missense_Mutation	SNP	G	TCGA-KL-8346-01A-11D-2310-10	139399613	184100469	13921961	21	40038											
CRIPAK	285464	mdanderson.org	37	4	1388524	1388524	+	Silent	SNP	A	A	G	rs55944930	byFrequency	TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr4:1388524A>G	ENST00000324803.4	+	1	3185	c.225A>G	c.(223-225)ccA>ccG	p.P75P		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	75					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)			TGGAGTGCCCACCTGCTCATG	0.642																																																0													287	247	260					4																	1388524		2203	4300	6503	SO:0001819	synonymous_variant	285464			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.225A>G	4.37:g.1388524A>G			Q8NB03	Silent	SNP	ENST00000324803.4	37	CCDS3349.1																																																																																				0.642	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		G	1388524	A	G	1388524	2	3	715	1	0	0	0	0	0	0	0	1	3879	146	6	3		3	CRIPAK	4	1388524	Silent	SNP	A	TCGA-KL-8346-01A-11D-2310-10		1388524	189765752	22	40039											
PDS5A	23244	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	4	39839775	39839775	+	Missense_Mutation	SNP	C	C	G			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr4:39839775C>G	ENST00000303538.8	-	32	4250	c.3711G>C	c.(3709-3711)aaG>aaC	p.K1237N		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						CTGTTCTTTTCTTTCCTCGGT	0.413																																																0													96	92	93					4																	39839775		1916	4133	6049	SO:0001583	missense	23244			AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.3711G>C	4.37:g.39839775C>G	ENSP00000303427:p.Lys1237Asn			Missense_Mutation	SNP	ENST00000303538.8	37	CCDS47045.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.959276	0.74016	.	.	ENSG00000121892	ENST00000303538	.	.	.	5.34	5.34	0.76211	.	0.320684	0.33309	N	0.005051	T	0.35595	0.0937	N	0.19112	0.55	0.80722	D	1	B	0.32829	0.386	B	0.31101	0.124	T	0.18272	-1.0342	8	.	.	.	-15.6347	12.8297	0.57738	0.0:0.9147:0.0:0.0852	.	1237	Q29RF7	PDS5A_HUMAN	N	1237	.	.	K	-	3	2	PDS5A	39516170	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.314000	0.33597	2.502000	0.84385	0.655000	0.94253	AAG		0.413	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361287.1	NM_015200		G	39839775	C	G	39839775	3	3	715	1	0	0	0	0	1	0	0	0	11693	912	32	4	310	4	PDS5A	4	39839775	Missense_Mutation	SNP	C	TCGA-KL-8346-01A-11D-2310-10	38451251	39839775	151314501	23	40040											
PPM1K	152926	ucsc.edu;mdanderson.org;bcgsc.ca	37	4	89199470	89199470	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr4:89199470T>C	ENST00000608933.1	-	2	655	c.266A>G	c.(265-267)aAa>aGa	p.K89R	PPM1K_ENST00000315194.4_Missense_Mutation_p.K89R|PPM1K_ENST00000506423.1_5'UTR|PPM1K_ENST00000508256.1_Intron|PPM1K_ENST00000295908.7_Missense_Mutation_p.K89R|PPM1K_ENST00000514204.1_Missense_Mutation_p.K89R	NM_152542.4	NP_689755.3	Q8N3J5	PPM1K_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1K	89					protein dephosphorylation (GO:0006470)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000192)		CAAGCTGATTTTGGGAATTGG	0.498																																																0													81	78	79					4																	89199470		2203	4300	6503	SO:0001583	missense	152926			BC037552	CCDS3629.1	4q22.1	2012-04-17	2010-03-05		ENSG00000163644	ENSG00000163644	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	25415	protein-coding gene	gene with protein product	"PP2C-type mitochondrial phosphoprotein phosphatase", "protein phosphatase 2C kappa", "branched-chain &#945;-ketoacid dehydrogenase phosphatase"	611065	"protein phosphatase 1K (PP2C domain containing)"			22291014	Standard	NM_152542		Approved	DKFZp761G058, PP2Ckappa, hPTMP, PP2Cm, BDP	uc003hrm.5	Q8N3J5	OTTHUMG00000130952	ENST00000608933.1:c.266A>G	4.37:g.89199470T>C	ENSP00000477341:p.Lys89Arg		B2RAZ1|Q05CT5|Q49AB5|Q4W5E6|Q56AN8|Q8IUZ7|Q8IXG7|Q8ND70|Q96NT4	Missense_Mutation	SNP	ENST00000608933.1	37	CCDS3629.1	.	.	.	.	.	.	.	.	.	.	T	13.94	2.386776	0.42308	.	.	ENSG00000163644	ENST00000295908;ENST00000506423;ENST00000315194	T;T;T	0.09350	2.99;2.99;2.99	4.39	4.39	0.52855	Protein phosphatase 2C-like (2);	0.165528	0.52532	D	0.000067	T	0.07369	0.0186	N	0.25890	0.77	0.47819	D	0.999524	B;B;B	0.21147	0.052;0.001;0.002	B;B;B	0.16289	0.015;0.004;0.002	T	0.24728	-1.0152	10	0.33940	T	0.23	-13.4347	7.8514	0.29457	0.0:0.0948:0.0:0.9052	.	89;89;89	Q8N3J5-2;Q8N3J5-3;Q8N3J5	.;.;PPM1K_HUMAN	R	89	ENSP00000295908:K89R;ENSP00000424155:K89R;ENSP00000324761:K89R	ENSP00000295908:K89R	K	-	2	0	PPM1K	89418494	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	6.083000	0.71326	1.984000	0.57885	0.260000	0.18958	AAA		0.498	PPM1K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253553.4	NM_152542		C	89199470	T	C	89199470	3	2	715	1	0	0	0	0	1	0	0	0	12348	1841	64	3	876	3	PPM1K	4	89199470	Missense_Mutation	SNP	T	TCGA-KL-8346-01A-11D-2310-10	49359695	89199470	101954806	24	40041											
ANK2	287	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	4	114290874	114290874	+	Silent	SNP	G	G	A	rs143290935		TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr4:114290874G>A	ENST00000357077.4	+	43	11576	c.11523G>A	c.(11521-11523)ccG>ccA	p.P3841P	ANK2_ENST00000394537.3_Silent_p.P1756P|ANK2_ENST00000506722.1_Silent_p.P1747P|ANK2_ENST00000509550.1_Silent_p.P932P|ANK2_ENST00000510275.2_Silent_p.P408P|ANK2_ENST00000264366.6_Silent_p.P3808P	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3841					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)		AGAGCTCTCCGCGGAAAACCA	0.532																																																0								G	,,	1,4405	2.1+/-5.4	0,1,2202	78	71	73		5241,11523,5268	-10.7	0	4	dbSNP_134	73	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	ANK2	NM_001127493.1,NM_001148.4,NM_020977.3	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	1747/1864,3841/3958,1756/1873	114290874	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	287			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.11523G>A	4.37:g.114290874G>A			Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	G	3.722	-0.057433	0.07317	2.27E-4	0.0	ENSG00000145362	ENST00000514960	.	.	.	5.37	-10.7	0.00240	.	.	.	.	.	T	0.14960	0.0361	.	.	.	0.22446	N	0.999094	.	.	.	.	.	.	T	0.06006	-1.0851	4	.	.	.	.	2.4666	0.04554	0.2618:0.2678:0.3197:0.1507	.	.	.	.	T	758	.	.	A	+	1	0	ANK2	114510323	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.816000	0.01720	-4.027000	0.00080	-2.218000	0.00297	GCG		0.532	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		A	114290874	G	A	114290874	2	1	715	1	0	0	0	0	0	0	0	1	621	1074	38	1		1	ANK2	4	114290874	Silent	SNP	G	TCGA-KL-8346-01A-11D-2310-10	25091404	114290874	76863402	25	40042											
PCDHA9	9752	mdanderson.org	37	5	140228473	140228473	+	Silent	SNP	A	A	G	rs364063		TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr5:140228473A>G	ENST00000532602.1	+	1	1426	c.393A>G	c.(391-393)ccA>ccG	p.P131P	PCDHA9_ENST00000378122.3_Silent_p.P131P|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	131	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(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)			ACAACCCTCCAGTGTTCCCAG	0.572																																					Melanoma(55;1800 1972 14909)											0													124	109	114					5																	140228473		2197	4265	6462	SO:0001819	synonymous_variant	9752			AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"Cadherins / Protocadherins : Clustered"	8675	other	complex locus constituent	"KIAA0345-like 5"	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.393A>G	5.37:g.140228473A>G			O15053|Q2M3S5	Silent	SNP	ENST00000532602.1	37	CCDS54920.1																																																																																				0.572	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		G	140228473	A	G	140228473	2	3	715	1	0	0	0	0	0	0	0	1	11533	175	7	3		3	PCDHA9	5	140228473	Silent	SNP	A	TCGA-KL-8346-01A-11D-2310-10		140228473	40686787	26	40043											
ATP10B	23120	broad.mit.edu;mdanderson.org;bcgsc.ca	37	5	160044894	160044894	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr5:160044894G>A	ENST00000327245.5	-	16	3349	c.2503C>T	c.(2503-2505)Cgc>Tgc	p.R835C	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	835					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)			CATAGTGTGCGCAGGCCATCT	0.423																																																0													161	155	157					5																	160044894		1876	4106	5982	SO:0001583	missense	23120			AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"ATPases / P-type"	13543	protein-coding gene	gene with protein product			"ATPase, Class V, type 10B"			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.2503C>T	5.37:g.160044894G>A	ENSP00000313600:p.Arg835Cys		Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.076744	0.55753	.	.	ENSG00000118322	ENST00000327245;ENST00000520108	D;D	0.87491	-2.26;-2.26	5.06	2.9	0.33743	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	0.95576	0.8562	H	0.97783	4.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96374	0.9276	9	.	.	.	.	12.6608	0.56813	0.0:0.0:0.573:0.427	.	443;835	Q2YDW8;O94823	.;AT10B_HUMAN	C	835;443	ENSP00000313600:R835C;ENSP00000431081:R443C	.	R	-	1	0	ATP10B	159977472	0.987000	0.35691	0.359000	0.25824	0.612000	0.37316	1.931000	0.40134	1.225000	0.43566	0.650000	0.86243	CGC		0.423	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		A	160044894	G	A	160044894	3	1	715	1	0	0	0	0	1	0	0	0	1117	1087	38	1	1926	1	ATP10B	5	160044894	Missense_Mutation	SNP	G	TCGA-KL-8346-01A-11D-2310-10	19816421	160044894	20870366	27	40044											
C6orf145	221749	ucsc.edu	37	6	3751696	3751696	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr6:3751696T>C	ENST00000380283.4	-	1	564	c.70A>G	c.(70-72)Atc>Gtc	p.I24V	PXDC1_ENST00000477592.2_5'UTR|RP11-420L9.5_ENST00000603791.1_RNA	NM_183373.3	NP_899229.2	Q5TGL8	PXDC1_HUMAN	PX domain containing 1	24	PX.						phosphatidylinositol binding (GO:0035091)										AGCCTGCGGATGCCGTTCACC	0.677																																																0													15	14	14					6																	3751696		2155	4226	6381	SO:0001583	missense	221749			AJ420534	CCDS4486.1	6p25.1	2011-11-25	2011-11-25	2011-11-25	ENSG00000168994	ENSG00000168994			21361	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 145"	C6orf145			Standard	NM_183373		Approved		uc003mvt.2	Q5TGL8	OTTHUMG00000014146	ENST00000380283.4:c.70A>G	6.37:g.3751696T>C	ENSP00000369636:p.Ile24Val		A8K0N3|Q6PGP0|Q86XB7	Missense_Mutation	SNP	ENST00000380283.4	37	CCDS4486.1	.	.	.	.	.	.	.	.	.	.	T	15.61	2.885704	0.51908	.	.	ENSG00000168994	ENST00000380283	T	0.68765	-0.35	3.74	2.57	0.30868	Phox homologous domain (1);	0.113419	0.64402	N	0.000018	T	0.39627	0.1085	L	0.57536	1.79	0.49213	D	0.999761	B	0.02656	0.0	B	0.10450	0.005	T	0.25363	-1.0134	10	0.19590	T	0.45	-14.2727	8.9994	0.36072	0.0:0.0905:0.0:0.9095	.	24	Q5TGL8	CF145_HUMAN	V	24	ENSP00000369636:I24V	ENSP00000369636:I24V	I	-	1	0	C6orf145	3696695	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	2.452000	0.44961	0.464000	0.27142	0.372000	0.22366	ATC		0.677	PXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039688.1	NM_183373		C	3751696	T	C	3751696	3	2	715	1	0	0	0	0	1	0	0	0	2336	1464	51	3	645	3	C6orf145	6	3751696	Missense_Mutation	SNP	T	TCGA-KL-8346-01A-11D-2310-10		3751696	167363371	28	40045											
FAM65B	9750	ucsc.edu	37	6	24825517	24825517	+	Silent	SNP	T	T	C			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr6:24825517T>C	ENST00000259698.4	-	20	3043	c.2868A>G	c.(2866-2868)gaA>gaG	p.E956E	FAM65B_ENST00000538035.1_Silent_p.E935E	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	956					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						CCTCACTAACTTCGTTGTCCT	0.502																																																0													161	130	140					6																	24825517		692	1591	2283	SO:0001819	synonymous_variant	9750			U49187	CCDS47383.1, CCDS47384.1, CCDS69057.1, CCDS69058.1, CCDS75410.1	6p22.3-p21.32	2012-11-30	2008-06-13	2008-06-13	ENSG00000111913	ENSG00000111913			13872	protein-coding gene	gene with protein product	"myogenesis-related and NCAM-associated protein homolog (chicken)"	611410	"chromosome 6 open reading frame 32"	C6orf32		9205841, 17150207, 17825087	Standard	NM_001286447		Approved	KIAA0386, DIFF48, MYONAP	uc003neo.1	Q9Y4F9	OTTHUMG00000014375	ENST00000259698.4:c.2868A>G	6.37:g.24825517T>C			A6NHP2|Q13529|Q5VV37|Q5VV38|Q9BQ28	Silent	SNP	ENST00000259698.4	37	CCDS47383.1																																																																																				0.502	FAM65B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040024.2			C	24825517	T	C	24825517	2	2	715	1	0	0	0	0	0	0	0	1	5602	1606	56	3		3	FAM65B	6	24825517	Silent	SNP	T	TCGA-KL-8346-01A-11D-2310-10	21073821	24825517	146289550	29	40046											
TNXB	7146	broad.mit.edu	37	6	31977381	31977381	+	5'Flank	SNP	T	T	C			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr6:31977381T>C	ENST00000594256.1	-	0	0				CYP21A1P_ENST00000342991.6_RNA																							AGTCTGTCTGTCCATCCATGC	0.622																																																0																																										SO:0001631	upstream_gene_variant	7148																															6.37:g.31977381T>C	Exception_encountered			RNA	SNP	ENST00000594256.1	37																																																																																					0.622	AL645922.1-201	NOVEL	basic|appris_principal	protein_coding	protein_coding				C	31977381	T	C	31977381	1	2	715	0	1	0	0	0	0	0	0	0	16351	1654	58	3		3	TNXB	6	31977381	5'Flank	SNP	T	TCGA-KL-8346-01A-11D-2310-10	7151864	31977381	139137686	30	40047											
RADIL	55698	bcgsc.ca	37	7	4917349	4917349	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr7:4917349A>G	ENST00000399583.3	-	2	609	c.422T>C	c.(421-423)cTc>cCc	p.L141P	RADIL_ENST00000536091.1_Missense_Mutation_p.L141P	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	141	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				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)		CTGGATCAAGAGGGGCTTCTC	0.617																																																0													60	67	65					7																	4917349		1940	4139	6079	SO:0001583	missense	55698			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.422T>C	7.37:g.4917349A>G	ENSP00000382492:p.Leu141Pro		A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Missense_Mutation	SNP	ENST00000399583.3	37	CCDS43544.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.224795	0.79576	.	.	ENSG00000157927	ENST00000399583;ENST00000316919;ENST00000536091	T;T	0.26957	1.7;1.7	5.84	5.84	0.93424	Ras-association (3);	0.000000	0.85682	D	0.000000	T	0.57489	0.2057	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65170	-0.6233	10	0.87932	D	0	-47.2017	15.3975	0.74808	1.0:0.0:0.0:0.0	.	141	Q96JH8	RADIL_HUMAN	P	141;115;141	ENSP00000382492:L141P;ENSP00000442533:L141P	ENSP00000320946:L115P	L	-	2	0	RADIL	4883875	1.000000	0.71417	0.999000	0.59377	0.710000	0.40934	8.943000	0.92975	2.235000	0.73313	0.459000	0.35465	CTC		0.617	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059		G	4917349	A	G	4917349	3	3	715	1	0	0	0	0	1	0	0	0	13003	304	11	3	2861	3	RADIL	7	4917349	Missense_Mutation	SNP	A	TCGA-KL-8346-01A-11D-2310-10		4917349	154221314	31	40048											
WBSCR27	155368	hgsc.bcm.edu	37	7	73254452	73254455	+	Splice_Site	DEL	TGTG	TGTG	-	rs375025208		TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	TGTG	TGTG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr7:73254452_73254455delTGTG	ENST00000297873.4	-	5	438		c.e5-2			NM_152559.2	NP_689772.2	Q8N6F8	WBS27_HUMAN	Williams Beuren syndrome chromosome region 27											NS(1)|central_nervous_system(1)|lung(2)|prostate(1)	5		Lung NSC(55;0.159)				CGAAGGTCCCTGTGTGTGTGTGGG	0.608																																																0																																										SO:0001630	splice_region_variant	155368			AF534110	CCDS5561.1	7q11.23	2004-07-05			ENSG00000165171	ENSG00000165171			19068	protein-coding gene	gene with protein product		612546					Standard	NM_152559		Approved		uc003tzj.2	Q8N6F8	OTTHUMG00000130033	ENST00000297873.4:c.389-2CACA>-	7.37:g.73254460_73254463delTGTG				Splice_Site	DEL	ENST00000297873.4	37	CCDS5561.1																																																																																				0.608	WBSCR27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252312.1	NM_152559	Intron	-	73254455	TGTG	-	73254452	8	5	715	1	0	1	0	1	0	0	1	0	17271	1594	55	0	358	0	WBSCR27	7	73254452	Splice_Site	DEL	TGTG	TCGA-KL-8346-01A-11D-2310-10	68337103	73254452	85884211	32	40049											
PRSS1	5644	mdanderson.org	37	7	142459667	142459667	+	Silent	SNP	G	G	A	rs142476093		TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr7:142459667G>A	ENST00000311737.7	+	3	249	c.243G>A	c.(241-243)ctG>ctA	p.L81L	PRSS1_ENST00000486171.1_Silent_p.L95L	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	81	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	TCGAAGTCCTGGAGGGGAATG	0.542																																																0													213	200	204					7																	142459667		2203	4300	6503	SO:0001819	synonymous_variant	5644			M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"Serine peptidases / Serine peptidases"	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.243G>A	7.37:g.142459667G>A			A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Silent	SNP	ENST00000311737.7	37	CCDS5872.1																																																																																				0.542	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2			A	142459667	G	A	142459667	2	1	715	1	0	0	0	0	0	0	0	1	12619	1335	47	2		2	PRSS1	7	142459667	Silent	SNP	G	TCGA-KL-8346-01A-11D-2310-10	69205215	142459667	16678996	33	40050											
ADRA1A	148	broad.mit.edu	37	8	26722373	26722373	+	Silent	SNP	A	A	C			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr8:26722373A>C	ENST00000519229.1	-	1	120	c.114T>G	c.(112-114)ctT>ctG	p.L38L	ADRA1A_ENST00000380581.2_Silent_p.L38L|ADRA1A_ENST00000380573.3_Silent_p.L38L|ADRA1A_ENST00000276393.4_Silent_p.L38L|ADRA1A_ENST00000380587.1_Silent_p.L38L|ADRA1A_ENST00000358857.5_Silent_p.L38L|ADRA1A_ENST00000354550.4_Silent_p.L38L|ADRA1A_ENST00000380586.1_Silent_p.L38L|ADRA1A_ENST00000380582.3_Silent_p.L38L|ADRA1A_ENST00000380572.3_Silent_p.L38L			P25100	ADA1D_HUMAN	adrenoceptor alpha 1A	108				MTFRDLLSVSFEGPRPDSSAGGSSAGGGGGSAGGAAPSEGP AVGGVPGGAGGGGGVVGAGSGEDNRSSAGEPGSAGAGGDVN G -> MAAALRSVMMAGYLSEWRTPTYRSTEMVQRLRMEAV QHSTS (in Ref. 1). {ECO:0000305}.	adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	GCACCCCGAAAAGAATGAGGC	0.592																																																0													192	214	207					8																	26722373		2203	4300	6503	SO:0001819	synonymous_variant	148			L31774	CCDS6052.1, CCDS6053.1, CCDS6054.1, CCDS34869.1	8p21.2	2012-08-08	2012-05-09		ENSG00000120907	ENSG00000120907		"GPCR / Class A : Adrenoceptors : alpha"	277	protein-coding gene	gene with protein product		104221	"adrenergic, alpha-1A-, receptor"	ADRA1C			Standard	NM_033303		Approved	ADRA1L1	uc003xfh.1	P35348	OTTHUMG00000099459	ENST00000519229.1:c.114T>G	8.37:g.26722373A>C			Q9NPY0	Silent	SNP	ENST00000519229.1	37																																																																																					0.592	ADRA1A-009	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000376207.1	NM_033303		C	26722373	A	C	26722373	2	2	715	1	0	0	0	0	0	0	0	1	334	1	1	5		5	ADRA1A	8	26722373	Silent	SNP	A	TCGA-KL-8346-01A-11D-2310-10		26722373	119641649	34	40051											
KCNV1	27012	broad.mit.edu	37	8	110980349	110980349	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr8:110980349T>C	ENST00000524391.1	-	4	2503	c.1471A>G	c.(1471-1473)Agg>Ggg	p.R491G	KCNV1_ENST00000297404.1_Missense_Mutation_p.R491G			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	491					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			CCGCTGCTCCTAGTACTTGCT	0.378																																																0													72	69	70					8																	110980349		2203	4300	6503	SO:0001583	missense	27012			AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.1471A>G	8.37:g.110980349T>C	ENSP00000435954:p.Arg491Gly		Q9UHJ4	Missense_Mutation	SNP	ENST00000524391.1	37	CCDS6314.1	.	.	.	.	.	.	.	.	.	.	T	17.22	3.334246	0.60853	.	.	ENSG00000164794	ENST00000524391;ENST00000297404;ENST00000545728	D;D	0.97850	-4.57;-4.57	5.4	4.21	0.49690	.	0.196595	0.43919	D	0.000513	D	0.96442	0.8839	N	0.24115	0.695	0.50813	D	0.999896	D	0.54601	0.967	P	0.60789	0.879	D	0.94623	0.7815	10	0.31617	T	0.26	.	11.6047	0.51024	0.0:0.0:0.1493:0.8507	.	491	Q6PIU1	KCNV1_HUMAN	G	491;491;367	ENSP00000435954:R491G;ENSP00000297404:R491G	ENSP00000297404:R491G	R	-	1	2	KCNV1	111049525	0.963000	0.33076	0.982000	0.44146	0.822000	0.46500	1.880000	0.39628	0.842000	0.35045	0.460000	0.39030	AGG		0.378	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385525.1	NM_014379		C	110980349	T	C	110980349	3	2	715	1	0	0	0	0	1	0	0	0	8096	1521	53	3	35	3	KCNV1	8	110980349	Missense_Mutation	SNP	T	TCGA-KL-8346-01A-11D-2310-10	84257976	110980349	35383673	35	40052											
GDA	9615	ucsc.edu;bcgsc.ca	37	9	74842929	74842929	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr9:74842929T>C	ENST00000358399.3	+	9	986	c.893T>C	c.(892-894)aTc>aCc	p.I298T	GDA_ENST00000376989.3_Missense_Mutation_p.I237T|GDA_ENST00000376986.1_Missense_Mutation_p.I220T|GDA_ENST00000238018.4_Missense_Mutation_p.I298T|GDA_ENST00000477618.1_3'UTR|GDA_ENST00000545168.1_Missense_Mutation_p.I224T	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	298					guanine catabolic process (GO:0006147)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|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)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	guanine deaminase activity (GO:0008892)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		GGAGCATCCATCGCACACTGT	0.453																																																0													135	105	115					9																	74842929		2203	4300	6503	SO:0001583	missense	9615			AF095286	CCDS6641.1, CCDS56576.1, CCDS56577.1	9q21.13	2008-05-14			ENSG00000119125	ENSG00000119125			4212	protein-coding gene	gene with protein product		139260				10075721, 3966794	Standard	NM_001242507		Approved		uc004air.3	Q9Y2T3	OTTHUMG00000020005	ENST00000358399.3:c.893T>C	9.37:g.74842929T>C	ENSP00000351170:p.Ile298Thr		B4DTY5|Q5SZC7|Q9H335|Q9ULG2	Missense_Mutation	SNP	ENST00000358399.3	37	CCDS6641.1	.	.	.	.	.	.	.	.	.	.	T	19.85	3.903144	0.72754	.	.	ENSG00000119125	ENST00000545168;ENST00000238018;ENST00000376989;ENST00000376986;ENST00000358399;ENST00000414671;ENST00000436438	D;D;D;D;D;D;D	0.91011	-2.77;-2.77;-2.77;-2.77;-2.77;-2.77;-2.77	5.51	5.51	0.81932	Amidohydrolase 1 (1);	0.120479	0.64402	D	0.000015	D	0.96228	0.8770	M	0.93898	3.47	0.47621	D	0.99947	D;D;D	0.65815	0.976;0.994;0.995	D;D;D	0.70487	0.952;0.948;0.969	D	0.97056	0.9767	10	0.87932	D	0	-7.2766	13.4407	0.61112	0.0:0.0:0.0:1.0	.	220;298;298	Q5SZC6;Q9Y2T3-3;Q9Y2T3	.;.;GUAD_HUMAN	T	224;298;237;220;298;164;6	ENSP00000437972:I224T;ENSP00000238018:I298T;ENSP00000366188:I237T;ENSP00000366185:I220T;ENSP00000351170:I298T;ENSP00000403897:I164T;ENSP00000400857:I6T	ENSP00000238018:I298T	I	+	2	0	GDA	74032749	0.999000	0.42202	0.668000	0.29813	0.942000	0.58702	5.576000	0.67437	2.210000	0.71456	0.533000	0.62120	ATC		0.453	GDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052633.1			C	74842929	T	C	74842929	3	2	715	1	0	0	0	0	1	0	0	0	6308	1435	50	3	927	3	GDA	9	74842929	Missense_Mutation	SNP	T	TCGA-KL-8346-01A-11D-2310-10		74842929	66370502	36	40053											
DUPD1	338599	mdanderson.org;bcgsc.ca	37	10	76803567	76803567	+	Missense_Mutation	SNP	T	T	G	rs16931938	byFrequency	TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr10:76803567T>G	ENST00000338487.5	-	2	408	c.409A>C	c.(409-411)Agc>Cgc	p.S137R		NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase domain containing 1	137	Tyrosine-protein phosphatase.		S -> R (in dbSNP:rs16931938).		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)					TGGTCGTCGCTTAGCGCTCTG	0.706													G|||	1507	0.300919	0.6543	0.2061	5008	,	,		6796	0.2738		0.0457	False		,,,				2504	0.181															0								G	ARG/SER	2448,1958	550.5+/-378.0	702,1044,457	67	60	62		409	-1.6	0	10	dbSNP_123	62	425,8175	797.7+/-407.4	11,403,3886	yes	missense	DUPD1	NM_001003892.1	110	713,1447,4343	GG,GT,TT		4.9419,44.4394,22.0898	benign	137/221	76803567	2873,10133	2203	4300	6503	SO:0001583	missense	338599				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.409A>C	10.37:g.76803567T>G	ENSP00000340609:p.Ser137Arg		B2RP93	Missense_Mutation	SNP	ENST00000338487.5	37	CCDS31223.1	608	0.2783882783882784	335	0.6808943089430894	71	0.19613259668508287	171	0.29895104895104896	31	0.040897097625329816	G	10.15	1.270877	0.23221	0.555606	0.049419	ENSG00000188716	ENST00000338487	T	0.61392	0.11	4.63	-1.65	0.08291	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.810313	0.11263	N	0.582345	T	0.00012	0.0000	L	0.48260	1.515	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.44967	-0.9293	9	0.23891	T	0.37	-0.524	13.1202	0.59321	0.0:0.0959:0.2121:0.692	rs16931938;rs52825920;rs16931938	137	Q68J44	DUPD1_HUMAN	R	137	ENSP00000340609:S137R	ENSP00000340609:S137R	S	-	1	0	DUPD1	76473573	0.003000	0.15002	0.000000	0.03702	0.002000	0.02628	0.125000	0.15749	-0.950000	0.03659	-0.847000	0.03039	AGC		0.706	DUPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048777.2	XM_291741		G	76803567	T	G	76803567	3	3	715	1	0	0	0	0	1	0	0	0	4806	1609	56	5	261	5	DUPD1	10	76803567	Missense_Mutation	SNP	T	TCGA-KL-8346-01A-11D-2310-10		76803567	58731180	37	40054											
FAM35A	54537	broad.mit.edu	37	10	88911469	88911469	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr10:88911469A>G	ENST00000298784.1	+	3	472	c.358A>G	c.(358-360)Atg>Gtg	p.M120V	FAM35A_ENST00000298786.4_Missense_Mutation_p.M120V|RN7SL733P_ENST00000582253.1_RNA	NM_019054.2	NP_061927.2	Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	120										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						TAGCTCTAATATGCAAATATG	0.348																																					Ovarian(175;703 2004 25460 32514 43441)											0													34	36	35					10																	88911469		2200	4296	6496	SO:0001583	missense	54537			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.358A>G	10.37:g.88911469A>G	ENSP00000298784:p.Met120Val		O95885|Q9H991	Missense_Mutation	SNP	ENST00000298784.1	37	CCDS7383.1	.	.	.	.	.	.	.	.	.	.	a	4.716	0.133084	0.09032	.	.	ENSG00000122376	ENST00000298786;ENST00000298784;ENST00000358313	T;T;T	0.20738	2.05;2.05;2.05	4.07	2.16	0.27623	.	1.188700	0.06644	N	0.761566	T	0.12561	0.0305	N	0.16368	0.405	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32640	-0.9899	10	0.37606	T	0.19	0.3866	3.8289	0.08865	0.2118:0.0:0.5451:0.2432	.	120	Q86V20	FA35A_HUMAN	V	120	ENSP00000298786:M120V;ENSP00000298784:M120V;ENSP00000351064:M120V	ENSP00000298784:M120V	M	+	1	0	FAM35A	88901449	0.002000	0.14202	0.001000	0.08648	0.031000	0.12232	1.098000	0.31000	0.369000	0.24510	-0.540000	0.04249	ATG		0.348	FAM35A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049196.2	NM_019054		G	88911469	A	G	88911469	3	3	715	1	0	0	0	0	1	0	0	0	5555	449	16	3	360	3	FAM35A	10	88911469	Missense_Mutation	SNP	A	TCGA-KL-8346-01A-11D-2310-10	12107902	88911469	46623278	38	40055											
C10orf91	170393	ucsc.edu	37	10	134261475	134261475	+	Silent	SNP	A	A	G			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr10:134261475A>G	ENST00000392630.3	+	3	409	c.348A>G	c.(346-348)tcA>tcG	p.S116S	C10orf91_ENST00000321248.2_Silent_p.S116S	NM_173541.2	NP_775812.1	Q5T1B1	CJ091_HUMAN	chromosome 10 open reading frame 91	116										endometrium(1)|kidney(1)|lung(1)|ovary(2)	5		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;6.95e-05)|Epithelial(32;0.000142)|all cancers(32;0.000162)		ATCAAGCCTCACAGGCGGCTG	0.672																																																0													49	63	58					10																	134261475		2202	4296	6498	SO:0001819	synonymous_variant	170393			BC030794	CCDS7668.1	10q26.3	2004-03-16			ENSG00000180066	ENSG00000180066			27275	protein-coding gene	gene with protein product						12477932	Standard	NM_173541		Approved	bA432J24.4	uc001llm.3	Q5T1B1	OTTHUMG00000019289	ENST00000392630.3:c.348A>G	10.37:g.134261475A>G			Q8N0T7	Silent	SNP	ENST00000392630.3	37	CCDS7668.1																																																																																				0.672	C10orf91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051078.2	NM_173541		G	134261475	A	G	134261475	2	3	715	1	0	0	0	0	0	0	0	1	1626	146	6	3		3	C10orf91	10	134261475	Silent	SNP	A	TCGA-KL-8346-01A-11D-2310-10	45350006	134261475	1273272	39	40056											
TPH1	7166	ucsc.edu	37	11	18044471	18044471	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr11:18044471A>G	ENST00000250018.2	-	9	1596	c.1034T>C	c.(1033-1035)cTt>cCt	p.L345P	TPH1_ENST00000341556.2_Missense_Mutation_p.L345P|RP1-59M18.2_ENST00000525523.1_RNA|TPH1_ENST00000525406.1_5'UTR	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	345					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)	ATGTCCAGAAAGTGCATGCTA	0.353																																																0													90	85	87					11																	18044471		2200	4293	6493	SO:0001583	missense	7166			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.1034T>C	11.37:g.18044471A>G	ENSP00000250018:p.Leu345Pro		D3DQX6|O95188|O95189|Q16736|Q3KPG8	Missense_Mutation	SNP	ENST00000250018.2	37	CCDS7829.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.556082	0.86231	.	.	ENSG00000129167	ENST00000250018;ENST00000341556	D;D	0.99762	-6.67;-6.67	5.78	5.78	0.91487	Aromatic amino acid hydroxylase, C-terminal (4);	0.000000	0.85682	D	0.000000	D	0.99799	0.9914	M	0.89534	3.04	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.96961	0.9701	10	0.87932	D	0	-26.648	16.1145	0.81295	1.0:0.0:0.0:0.0	.	345	P17752	TPH1_HUMAN	P	345	ENSP00000250018:L345P;ENSP00000343550:L345P	ENSP00000250018:L345P	L	-	2	0	TPH1	18001047	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.339000	0.96797	2.205000	0.71048	0.454000	0.30748	CTT		0.353	TPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389696.1	NM_004179		G	18044471	A	G	18044471	3	3	715	1	0	0	0	0	1	0	0	0	16406	72	3	3	308	3	TPH1	11	18044471	Missense_Mutation	SNP	A	TCGA-KL-8346-01A-11D-2310-10		18044471	116962045	40	40057											
C1QTNF4	114900	ucsc.edu	37	11	47612134	47612134	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr11:47612134A>G	ENST00000302514.3	-	2	745	c.229T>C	c.(229-231)Ttc>Ctc	p.F77L		NM_031909.2	NP_114115.2	Q9BXJ3	C1QT4_HUMAN	C1q and tumor necrosis factor related protein 4	77	C1q 1. {ECO:0000255|PROSITE- ProRule:PRU00368}.					extracellular space (GO:0005615)				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						AAGGAGAAGAAGTAGGCGCCG	0.657																																																0													14	15	14					11																	47612134		2193	4284	6477	SO:0001583	missense	114900			AF329838	CCDS7942.1	11q11	2008-07-18				ENSG00000172247			14346	protein-coding gene	gene with protein product	"complement-c1q tumor necrosis factor-related protein 4"	614911				16094384	Standard	NM_031909		Approved	CTRP4, ZACRP4	uc001ngc.2	Q9BXJ3		ENST00000302514.3:c.229T>C	11.37:g.47612134A>G	ENSP00000302274:p.Phe77Leu		Q8IV25	Missense_Mutation	SNP	ENST00000302514.3	37	CCDS7942.1	.	.	.	.	.	.	.	.	.	.	A	18.38	3.611294	0.66558	.	.	ENSG00000172247	ENST00000302514;ENST00000530097	T;T	0.74842	-0.88;-0.88	4.2	4.2	0.49525	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.149149	0.46442	U	0.000298	T	0.71745	0.3376	L	0.60904	1.88	0.35460	D	0.796458	B	0.29481	0.245	B	0.31946	0.138	T	0.79555	-0.1755	10	0.72032	D	0.01	.	13.5783	0.61888	1.0:0.0:0.0:0.0	.	77	Q9BXJ3	C1QT4_HUMAN	L	77	ENSP00000302274:F77L;ENSP00000434548:F77L	ENSP00000302274:F77L	F	-	1	0	C1QTNF4	47568710	1.000000	0.71417	1.000000	0.80357	0.673000	0.39480	7.332000	0.79203	1.687000	0.51057	0.254000	0.18369	TTC		0.657	C1QTNF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391772.1	NM_031909		G	47612134	A	G	47612134	3	3	715	1	0	0	0	0	1	0	0	0	1967	72	3	3	764	3	C1QTNF4	11	47612134	Missense_Mutation	SNP	A	TCGA-KL-8346-01A-11D-2310-10	29567663	47612134	87394382	41	40058											
CPSF7	79869	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	11	61183901	61183901	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr11:61183901C>T	ENST00000394888.4	-	6	813	c.641G>A	c.(640-642)cGt>cAt	p.R214H	CPSF7_ENST00000340437.4_Missense_Mutation_p.R257H|CPSF7_ENST00000448745.1_Missense_Mutation_p.R205H|CPSF7_ENST00000439958.3_Missense_Mutation_p.R205H	NM_001136040.2	NP_001129512.1	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	214					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						CTTATCCACACGAGCAGATGA	0.582																																																0													112	108	109					11																	61183901		2202	4299	6501	SO:0001583	missense	79869				CCDS8006.2, CCDS44619.1, CCDS44620.1	11q12.2	2013-06-18			ENSG00000149532	ENSG00000149532		"RNA binding motif (RRM) containing"	30098	protein-coding gene	gene with protein product	"pre mRNA cleavage factor I, 59 kDa subunit", "cleavage factor Im complex 59 kDa subunit"					12477932	Standard	NM_024811		Approved	FLJ12529	uc001nrp.3	Q8N684	OTTHUMG00000168198	ENST00000394888.4:c.641G>A	11.37:g.61183901C>T	ENSP00000378352:p.Arg214His		B3KU04|C9K0Q4|Q7Z3H9|Q9H025|Q9H9V1	Missense_Mutation	SNP	ENST00000394888.4	37	CCDS44619.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.465019	0.63513	.	.	ENSG00000149532	ENST00000340437;ENST00000394888;ENST00000439958;ENST00000448745;ENST00000477890;ENST00000539952;ENST00000544585	.	.	.	5.14	4.23	0.50019	.	0.220163	0.39834	N	0.001242	T	0.40222	0.1108	N	0.24115	0.695	0.80722	D	1	B;B;B;B	0.15141	0.001;0.002;0.012;0.003	B;B;B;B	0.08055	0.001;0.0;0.003;0.001	T	0.18808	-1.0325	9	0.17369	T	0.5	-3.5682	11.7089	0.51614	0.0:0.9178:0.0:0.0822	.	205;214;257;205	B4DGF8;Q8N684;Q8N684-3;Q8N684-2	.;CPSF7_HUMAN;.;.	H	257;214;205;205;205;205;205	.	ENSP00000345412:R257H	R	-	2	0	CPSF7	60940477	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.863000	0.69568	1.400000	0.46741	-0.136000	0.14681	CGT		0.582	CPSF7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347835.2	NM_024811		T	61183901	C	T	61183901	3	4	715	1	0	0	0	0	1	0	0	0	3832	536	19	1	790	1	CPSF7	11	61183901	Missense_Mutation	SNP	C	TCGA-KL-8346-01A-11D-2310-10	13571767	61183901	73822615	42	40059											
GDPD5	81544	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	11	75152734	75152734	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr11:75152734G>A	ENST00000336898.3	-	13	2119	c.1282C>T	c.(1282-1284)Cgg>Tgg	p.R428W	GDPD5_ENST00000526177.1_Missense_Mutation_p.R290W|GDPD5_ENST00000376282.3_Missense_Mutation_p.R309W|GDPD5_ENST00000533784.1_Missense_Mutation_p.R309W|GDPD5_ENST00000529721.1_Missense_Mutation_p.R428W|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000533805.1_Missense_Mutation_p.R183W	NM_030792.6	NP_110419.5	Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	428	GP-PDE.				cerebral cortex neuron differentiation (GO:0021895)|glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)|negative regulation of Notch signaling pathway (GO:0045746)|neuron projection development (GO:0031175)|positive regulation of neuron differentiation (GO:0045666)|regulation of timing of cell differentiation (GO:0048505)|spinal cord motor neuron differentiation (GO:0021522)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						AGGTTCAGCCGCTGGATGTGG	0.667																																																0													30	28	28					11																	75152734		2200	4292	6492	SO:0001583	missense	81544			AF318377	CCDS8238.1	11q13.4-q13.5	2011-01-25				ENSG00000158555			28804	protein-coding gene	gene with protein product		609632				18667693, 17275818	Standard	NM_030792		Approved	PP1665, GDE2	uc001owp.4	Q8WTR4		ENST00000336898.3:c.1282C>T	11.37:g.75152734G>A	ENSP00000337972:p.Arg428Trp		Q49AQ5|Q6UX76|Q7Z4S0|Q8N781|Q8NCB7|Q8TB77	Missense_Mutation	SNP	ENST00000336898.3	37	CCDS8238.1	.	.	.	.	.	.	.	.	.	.	g	16.14	3.040109	0.55003	.	.	ENSG00000158555	ENST00000526177;ENST00000533784;ENST00000529721;ENST00000336898;ENST00000533805;ENST00000376282;ENST00000534322	T;T;T;T;T;T;T	0.11604	2.76;2.76;2.76;2.76;2.76;2.76;2.76	5.14	-8.74	0.00838	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.925450	0.09262	N	0.826356	T	0.06371	0.0164	L	0.47190	1.495	0.53005	D	0.999964	B;B	0.20671	0.047;0.004	B;B	0.12156	0.007;0.0	T	0.32214	-0.9915	10	0.37606	T	0.19	-5.4375	2.1938	0.03906	0.4485:0.0881:0.1186:0.3448	.	309;428	Q8WTR4-2;Q8WTR4	.;GDPD5_HUMAN	W	290;309;428;428;183;309;12	ENSP00000434050:R290W;ENSP00000437049:R309W;ENSP00000433214:R428W;ENSP00000337972:R428W;ENSP00000435196:R183W;ENSP00000365459:R309W;ENSP00000435728:R12W	ENSP00000337972:R428W	R	-	1	2	GDPD5	74830382	0.015000	0.18098	0.823000	0.32752	0.972000	0.66771	-0.738000	0.04871	-1.260000	0.02465	0.552000	0.68991	CGG		0.667	GDPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384409.1	NM_030792		A	75152734	G	A	75152734	3	1	715	1	0	0	0	0	1	0	0	0	6329	1086	38	1	555	1	GDPD5	11	75152734	Missense_Mutation	SNP	G	TCGA-KL-8346-01A-11D-2310-10	13968833	75152734	59853782	43	40060											
CCDC82	79780	broad.mit.edu	37	11	96117896	96117896	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr11:96117896T>C	ENST00000278520.5	-	3	444	c.16A>G	c.(16-18)Aga>Gga	p.R6G	CCDC82_ENST00000542662.1_Missense_Mutation_p.R6G|CCDC82_ENST00000525786.1_5'Flank|CCDC82_ENST00000423339.2_Missense_Mutation_p.R6G			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	6										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		GTTTCATGTCTTCTAACATGT	0.333																																																0													47	46	46					11																	96117896		2197	4292	6489	SO:0001583	missense	79780			AF245436	CCDS8307.1	11q21	2006-03-09			ENSG00000149231	ENSG00000149231			26282	protein-coding gene	gene with protein product						12477932	Standard	NM_024725		Approved	FLJ23518	uc001pfx.4	Q8N4S0	OTTHUMG00000167678	ENST00000278520.5:c.16A>G	11.37:g.96117896T>C	ENSP00000278520:p.Arg6Gly		B3KPU7|Q8WV71|Q9H2Q5|Q9H5E3	Missense_Mutation	SNP	ENST00000278520.5	37	CCDS8307.1	.	.	.	.	.	.	.	.	.	.	T	18.77	3.694155	0.68386	.	.	ENSG00000149231	ENST00000278520;ENST00000542662;ENST00000423339;ENST00000538597;ENST00000530203	T;T;T;T	0.39997	1.4;1.4;1.4;1.05	5.31	4.18	0.49190	.	0.495798	0.20614	N	0.088919	T	0.57666	0.2069	M	0.68317	2.08	0.31516	N	0.663024	D;D	0.76494	0.999;0.997	D;P	0.69479	0.964;0.814	T	0.63651	-0.6589	10	0.62326	D	0.03	-16.8259	9.2464	0.37529	0.0:0.0835:0.0:0.9165	.	6;6	Q8N4S0-2;Q8N4S0	.;CCD82_HUMAN	G	6	ENSP00000278520:R6G;ENSP00000444010:R6G;ENSP00000397156:R6G;ENSP00000442723:R6G	ENSP00000278520:R6G	R	-	1	2	CCDC82	95757544	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.939000	0.48995	2.132000	0.65825	0.533000	0.62120	AGA		0.333	CCDC82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395542.2	NM_024725		C	96117896	T	C	96117896	3	2	715	1	0	0	0	0	1	0	0	0	2858	1617	56	3	1646	3	CCDC82	11	96117896	Missense_Mutation	SNP	T	TCGA-KL-8346-01A-11D-2310-10	20965162	96117896	38888620	44	40061											
CACNA1C	775	mdanderson.org	37	12	2794937	2794937	+	Missense_Mutation	SNP	C	C	T	rs201777030		TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr12:2794937C>T	ENST00000347598.4	+	46	5753	c.5753C>T	c.(5752-5754)aCg>aTg	p.T1918M	CACNA1C_ENST00000399638.1_Missense_Mutation_p.T1898M|CACNA1C_ENST00000327702.7_Missense_Mutation_p.T1905M|CACNA1C_ENST00000399603.1_Missense_Mutation_p.T1870M|CACNA1C_ENST00000344100.3_Missense_Mutation_p.T1911M|CACNA1C_ENST00000399591.1_Missense_Mutation_p.T1878M|CACNA1C_ENST00000399601.1_Missense_Mutation_p.T1870M|CACNA1C_ENST00000402845.3_Missense_Mutation_p.T1889M|CACNA1C_ENST00000399649.1_Missense_Mutation_p.T1876M|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000335762.5_Missense_Mutation_p.T1895M|CACNA1C_ENST00000399655.1_Missense_Mutation_p.T1870M|CACNA1C_ENST00000399637.1_Missense_Mutation_p.T1889M|CACNA1C_ENST00000399595.1_Missense_Mutation_p.T1878M|CACNA1C_ENST00000399617.1_Missense_Mutation_p.T1905M|CACNA1C_ENST00000399644.1_Missense_Mutation_p.T1870M|CACNA1C_ENST00000406454.3_Missense_Mutation_p.T1941M|CACNA1C_ENST00000399634.1_Missense_Mutation_p.T1941M|CACNA1C_ENST00000399621.1_Missense_Mutation_p.T1889M|CACNA1C_ENST00000399606.1_Missense_Mutation_p.T1890M|CACNA1C_ENST00000399597.1_Missense_Mutation_p.T1870M|CACNA1C_ENST00000399641.1_Missense_Mutation_p.T1870M|CACNA1C_ENST00000399629.1_Missense_Mutation_p.T1887M	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1953					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.T1911M(1)|p.T1983M(1)|p.T1405M(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CGGCAACTGACGCTCCCAGAG	0.582																																																3	Substitution - Missense(3)	skin(3)											49	49	49					12																	2794937		2012	4159	6171	SO:0001583	missense	775			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.5753C>T	12.37:g.2794937C>T	ENSP00000266376:p.Thr1918Met		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.802724	0.50315	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55	4.26	4.26	0.50523	.	29.029300	0.00550	N	0.000258	T	0.70133	0.3189	L	0.56769	1.78	0.34775	D	0.734153	P;P;D;P;P;D;D;P;P;D;P;D;P;P;D;P;P;B;P;P;D;P;P;D;D	0.65815	0.863;0.922;0.995;0.664;0.934;0.988;0.992;0.869;0.638;0.966;0.922;0.989;0.927;0.783;0.992;0.677;0.927;0.317;0.922;0.485;0.985;0.869;0.869;0.981;0.995	B;P;P;B;P;P;P;P;B;P;P;P;P;P;P;B;P;B;P;B;P;P;P;P;P	0.56916	0.238;0.595;0.809;0.146;0.756;0.647;0.795;0.595;0.282;0.553;0.595;0.736;0.521;0.595;0.65;0.391;0.521;0.299;0.595;0.229;0.542;0.595;0.595;0.46;0.809	T	0.60281	-0.7294	10	0.38643	T	0.18	.	16.9179	0.86156	0.0:1.0:0.0:0.0	.	561;1911;1867;1953;1905;1889;1870;1887;1898;1870;1890;1870;1901;1918;1870;1905;1941;1878;1876;1878;1859;1889;1889;1870;1870	B7Z7Z5;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	M	1895;1870;1870;1898;1870;1889;1889;1878;1870;1918;1890;1870;1911;1887;1905;1876;1889;1870;1941;1905;1941;1878;1771	ENSP00000336982:T1895M;ENSP00000382563:T1870M;ENSP00000382552:T1870M;ENSP00000382547:T1898M;ENSP00000382506:T1870M;ENSP00000382530:T1889M;ENSP00000382546:T1889M;ENSP00000382500:T1878M;ENSP00000382549:T1870M;ENSP00000266376:T1918M;ENSP00000382515:T1890M;ENSP00000382510:T1870M;ENSP00000341092:T1911M;ENSP00000382537:T1887M;ENSP00000329877:T1905M;ENSP00000382557:T1876M;ENSP00000385724:T1889M;ENSP00000382512:T1870M;ENSP00000382542:T1941M;ENSP00000382526:T1905M;ENSP00000385896:T1941M;ENSP00000382504:T1878M	ENSP00000323129:T1771M	T	+	2	0	CACNA1C	2665198	1.000000	0.71417	0.106000	0.21319	0.488000	0.33401	5.733000	0.68571	2.202000	0.70862	0.449000	0.29647	ACG		0.582	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		T	2794937	C	T	2794937	3	4	715	1	0	0	0	0	1	0	0	0	2542	536	19	1	6492	1	CACNA1C	12	2794937	Missense_Mutation	SNP	C	TCGA-KL-8346-01A-11D-2310-10		2794937	131056958	45	40062											
ATN1	1822	broad.mit.edu;ucsc.edu;mdanderson.org	37	12	7045495	7045495	+	Silent	SNP	A	A	C			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr12:7045495A>C	ENST00000356654.4	+	5	1302	c.1065A>C	c.(1063-1065)tcA>tcC	p.S355S	ATN1_ENST00000396684.2_Silent_p.S355S	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	355					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						TGGCTCCTTCACCCCACTCTC	0.597																																																0													130	134	133					12																	7045495		2203	4300	6503	SO:0001819	synonymous_variant	1822			U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"dentatorubral-pallidoluysian atrophy (atrophin-1)"	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.1065A>C	12.37:g.7045495A>C			Q99495|Q99621|Q9UEK7	Silent	SNP	ENST00000356654.4	37	CCDS31734.1																																																																																				0.597	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		C	7045495	A	C	7045495	2	2	715	1	0	0	0	0	0	0	0	1	1111	146	6	5		5	ATN1	12	7045495	Silent	SNP	A	TCGA-KL-8346-01A-11D-2310-10	4250558	7045495	126806400	46	40063											
C1RL	51279	bcgsc.ca	37	12	7252316	7252316	+	Silent	SNP	T	T	C	rs146214220		TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr12:7252316T>C	ENST00000266542.4	-	5	749	c.657A>G	c.(655-657)agA>agG	p.R219R	C1RL_ENST00000544702.1_Missense_Mutation_p.D235G|C1RL_ENST00000504702.2_5'Flank|C1RL_ENST00000545280.1_Intron	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	219					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						CCCCATCCTGTCTGTCTTTCC	0.552																																																0								T		0,4392		0,0,2196	77	55	62		657	-4.9	0	12	dbSNP_134	62	1,8589		0,1,4294	no	coding-synonymous	C1RL	NM_016546.2		0,1,6490	CC,CT,TT		0.0116,0.0,0.0077		219/488	7252316	1,12981	2196	4295	6491	SO:0001819	synonymous_variant	51279			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.657A>G	12.37:g.7252316T>C			Q53GX9	Silent	SNP	ENST00000266542.4	37	CCDS8573.1	.	.	.	.	.	.	.	.	.	.	T	11.61	1.688828	0.29962	0.0	1.16E-4	ENSG00000139178	ENST00000544702	T	0.36520	1.25	3.85	-4.92	0.03075	.	.	.	.	.	T	0.14830	0.0358	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.23976	-1.0173	7	.	.	.	.	1.1981	0.01879	0.1477:0.2867:0.3024:0.2632	.	235	F5GWF3	.	G	235	ENSP00000441885:D235G	.	D	-	2	0	C1RL	7143458	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.521000	0.06245	-1.021000	0.03350	0.374000	0.22700	GAC		0.552	C1RL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398367.1	NM_016546		C	7252316	T	C	7252316	2	2	715	1	0	0	0	0	0	0	0	1	1975	1664	58	3		3	C1RL	12	7252316	Silent	SNP	T	TCGA-KL-8346-01A-11D-2310-10	206821	7252316	126599579	47	40064											
PABPC3	5042	mdanderson.org	37	13	25670873	25670873	+	Silent	SNP	A	A	G	rs77142265	byFrequency	TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr13:25670873A>G	ENST00000281589.3	+	1	574	c.537A>G	c.(535-537)cgA>cgG	p.R179R		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	179					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)		GTAAAGAACGAGAAGCTGAAC	0.408													a|||	274	0.0547125	0.0779	0.0591	5008	,	,		22193	0.0347		0.0318	False		,,,				2504	0.0644															0													103	96	98					13																	25670873		2203	4300	6503	SO:0001819	synonymous_variant	5042			AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"RNA binding motif (RRM) containing"	8556	protein-coding gene	gene with protein product	"testis PABP"	604680	"poly(A)-binding protein, cytoplasmic 3"	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.537A>G	13.37:g.25670873A>G			Q8NHV0|Q9H086	Silent	SNP	ENST00000281589.3	37	CCDS9311.1																																																																																				0.408	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		G	25670873	A	G	25670873	2	3	715	1	0	0	0	0	0	0	0	1	11367	291	11	3		3	PABPC3	13	25670873	Silent	SNP	A	TCGA-KL-8346-01A-11D-2310-10		25670873	89499005	48	40065											
SERPINA10	51156	ucsc.edu;mdanderson.org;bcgsc.ca	37	14	94756470	94756470	+	Missense_Mutation	SNP	C	C	T	rs61761870	byFrequency	TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr14:94756470C>T	ENST00000393096.1	-	2	926	c.461G>A	c.(460-462)cGc>cAc	p.R154H	SERPINA10_ENST00000554723.1_Missense_Mutation_p.R194H|SERPINA10_ENST00000554173.1_Missense_Mutation_p.R154H|SERPINA10_ENST00000261994.4_Missense_Mutation_p.R154H	NM_016186.2	NP_057270.1	Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	154					blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TTCCAGGTTGCGGGAGAGGGT	0.517													T|||	13	0.00259585	0.0098	0.0	5008	,	,		17508	0.0		0.0	False		,,,				2504	0.0															0								T	HIS/ARG,HIS/ARG	38,4368	800.4+/-415.6	1,36,2166	55	62	60		461,461	-7.7	0	14	dbSNP_129	60	0,8600		0,0,4300	yes	missense,missense	SERPINA10	NM_001100607.1,NM_016186.2	29,29	1,36,6466	TT,TC,CC		0.0,0.8625,0.2922	benign,benign	154/445,154/445	94756470	38,12968	2203	4300	6503	SO:0001583	missense	51156			AF181467	CCDS9923.1	14q32.13	2014-02-18	2005-08-18		ENSG00000140093	ENSG00000140093		"Serine (or cysteine) peptidase inhibitors"	15996	protein-coding gene	gene with protein product		605271	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10"			10460162, 9689066, 24172014	Standard	NM_016186		Approved	PZI, ZPI	uc001yct.3	Q9UK55	OTTHUMG00000171345	ENST00000393096.1:c.461G>A	14.37:g.94756470C>T	ENSP00000376809:p.Arg154His		A5Z2A5|Q6UWX9|Q86U20	Missense_Mutation	SNP	ENST00000393096.1	37	CCDS9923.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	T	1.618	-0.522143	0.04171	0.008625	0.0	ENSG00000140093	ENST00000554723;ENST00000393096;ENST00000261994;ENST00000554173	D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86	4.97	-7.71	0.01254	Serpin domain (3);	2.161880	0.01822	N	0.034133	T	0.66247	0.2770	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.60424	-0.7266	10	0.30854	T	0.27	.	10.0492	0.42205	0.0:0.3809:0.1627:0.4564	rs61761870	154	Q9UK55	ZPI_HUMAN	H	194;154;154;154	ENSP00000450896:R194H;ENSP00000376809:R154H;ENSP00000261994:R154H;ENSP00000450971:R154H	ENSP00000261994:R154H	R	-	2	0	SERPINA10	93826223	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.234000	0.00546	-2.153000	0.00793	-3.554000	0.00030	CGC		0.517	SERPINA10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413061.1	NM_016186		T	94756470	C	T	94756470	3	4	715	1	0	0	0	0	1	0	0	0	14093	768	27	1	889	1	SERPINA10	14	94756470	Missense_Mutation	SNP	C	TCGA-KL-8346-01A-11D-2310-10		94756470	12593070	49	40066											
MAPKBP1	23005	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	15	42113229	42113229	+	Missense_Mutation	SNP	A	A	C			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr15:42113229A>C	ENST00000456763.2	+	24	2895	c.2699A>C	c.(2698-2700)cAt>cCt	p.H900P	MAPKBP1_ENST00000514566.1_Missense_Mutation_p.H894P|MAPKBP1_ENST00000457542.2_Missense_Mutation_p.H894P|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.H777P|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.H733P	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	900										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)		CCCAGGAAGCATGGGCAGGAG	0.602																																																0													67	63	65					15																	42113229		2203	4300	6503	SO:0001583	missense	23005			AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"WD repeat domain containing"	29536	protein-coding gene	gene with protein product			"mitogen activated protein kinase binding protein 1"			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.2699A>C	15.37:g.42113229A>C	ENSP00000393099:p.His900Pro		A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP	ENST00000456763.2	37	CCDS45239.1	.	.	.	.	.	.	.	.	.	.	a	5.467	0.271189	0.10349	.	.	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000260357;ENST00000456763;ENST00000514566	T;T;T;T;T	0.39229	1.25;1.42;1.09;1.3;1.38	4.59	3.43	0.39272	.	0.827610	0.10727	N	0.641001	T	0.26593	0.0650	N	0.19112	0.55	0.09310	N	1	B;B;P;P;B;P	0.39282	0.255;0.255;0.666;0.63;0.246;0.49	B;B;B;B;B;B	0.37346	0.06;0.136;0.092;0.187;0.081;0.247	T	0.07829	-1.0752	10	0.25106	T	0.35	-0.1822	7.9821	0.30190	0.792:0.208:0.0:0.0	.	733;777;733;894;900;894	F8WC21;O60336-3;B4DYK7;O60336-2;O60336;O60336-6	.;.;.;.;MABP1_HUMAN;.	P	894;777;733;900;894	ENSP00000397570:H894P;ENSP00000221214:H777P;ENSP00000260357:H733P;ENSP00000393099:H900P;ENSP00000426154:H894P	ENSP00000221214:H777P	H	+	2	0	MAPKBP1	39900521	0.171000	0.23029	0.341000	0.25589	0.061000	0.15899	1.398000	0.34554	0.758000	0.33059	0.460000	0.39030	CAT		0.602	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994		C	42113229	A	C	42113229	3	2	715	1	0	0	0	0	1	0	0	0	9294	217	8	5	2789	5	MAPKBP1	15	42113229	Missense_Mutation	SNP	A	TCGA-KL-8346-01A-11D-2310-10		42113229	60418163	50	40067											
USP8	9101	mdanderson.org	37	15	50784990	50784990	+	Missense_Mutation	SNP	T	T	C	rs146125856	byFrequency	TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr15:50784990T>C	ENST00000396444.3	+	15	2665	c.2327T>C	c.(2326-2328)cTt>cCt	p.L776P	RP11-562A8.5_ENST00000560159.1_lincRNA|USP8_ENST00000425032.3_Missense_Mutation_p.L670P|USP8_ENST00000307179.4_Missense_Mutation_p.L776P|USP8_ENST00000433963.1_Missense_Mutation_p.L776P	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	776					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)	p.L776P(1)		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)		GGACCAGCTCTTACTGGACTT	0.418																																																1	Substitution - Missense(1)	central_nervous_system(1)											126	112	117					15																	50784990		2196	4294	6490	SO:0001583	missense	9101			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.2327T>C	15.37:g.50784990T>C	ENSP00000379721:p.Leu776Pro		B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Missense_Mutation	SNP	ENST00000396444.3	37	CCDS10137.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.062687	0.76187	.	.	ENSG00000138592	ENST00000396444;ENST00000433963;ENST00000307179;ENST00000425032;ENST00000419830;ENST00000396440	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	5.22	5.22	0.72569	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (1);	0.000000	0.85682	D	0.000000	T	0.57562	0.2062	M	0.80332	2.49	0.80722	D	1	D;D	0.67145	0.992;0.996	D;D	0.71870	0.924;0.975	T	0.63906	-0.6531	10	0.72032	D	0.01	-8.8207	15.3993	0.74827	0.0:0.0:0.0:1.0	.	670;776	B4DKA8;P40818	.;UBP8_HUMAN	P	776;776;776;670;1;1	ENSP00000379721:L776P;ENSP00000405537:L776P;ENSP00000302239:L776P;ENSP00000412682:L670P	ENSP00000302239:L776P	L	+	2	0	USP8	48572282	1.000000	0.71417	0.994000	0.49952	0.822000	0.46500	7.435000	0.80391	2.096000	0.63516	0.528000	0.53228	CTT		0.418	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1	NM_005154		C	50784990	T	C	50784990	3	2	715	1	0	0	0	0	1	0	0	0	17094	1609	56	3	2381	3	USP8	15	50784990	Missense_Mutation	SNP	T	TCGA-KL-8346-01A-11D-2310-10	8671761	50784990	51746402	51	40068											
DENND4A	10260	bcgsc.ca	37	15	65982751	65982751	+	Splice_Site	SNP	A	A	G			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr15:65982751A>G	ENST00000431932.2	-	22	4256		c.e22+1		DENND4A_ENST00000567323.1_Splice_Site|DENND4A_ENST00000443035.3_Splice_Site	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A						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						AACCAAACTTACCTTAGATGA	0.373																																																0													107	97	100					15																	65982751		2008	4163	6171	SO:0001630	splice_region_variant	10260			AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"DENN/MADD domain containing"	24321	protein-coding gene	gene with protein product		600382	"c-myc promoter binding protein"	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.4047+1T>C	15.37:g.65982751A>G			E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Splice_Site	SNP	ENST00000431932.2	37	CCDS45285.1	.	.	.	.	.	.	.	.	.	.	A	12.73	2.025883	0.35701	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5398	0.76035	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DENND4A	63769805	1.000000	0.71417	0.969000	0.41365	0.368000	0.29767	8.310000	0.89971	2.083000	0.62718	0.528000	0.53228	.		0.373	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848	Intron	G	65982751	A	G	65982751	5	3	715	1	0	0	0	0	0	0	1	0	4435	405	14	3	1586	3	DENND4A	15	65982751	Splice_Site	SNP	A	TCGA-KL-8346-01A-11D-2310-10	15197761	65982751	36548641	52	40069											
C15orf42	90381	ucsc.edu	37	15	90119273	90119273	+	Silent	SNP	C	C	T			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr15:90119273C>T	ENST00000268138.7	+	1	561	c.456C>T	c.(454-456)aaC>aaT	p.N152N	RP11-429B14.1_ENST00000559041.1_RNA|TICRR_ENST00000560985.1_Silent_p.N152N			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	152				N -> Y (in Ref. 3; DR731357). {ECO:0000305}.	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)										GCTTGGTGAACGCCGTCTTCC	0.716																																																0													13	18	16					15																	90119273		2024	4165	6189	SO:0001819	synonymous_variant	90381			AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"TOPBP1-interacting replication-stimulating protein", "SLD3 homolog (S. cerevisiae)"	613298	"chromosome 15 open reading frame 42"	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.456C>T	15.37:g.90119273C>T			B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Silent	SNP	ENST00000268138.7	37	CCDS10352.2																																																																																				0.716	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259		T	90119273	C	T	90119273	2	4	715	1	0	0	0	0	0	0	0	1	1798	535	19	1		1	C15orf42	15	90119273	Silent	SNP	C	TCGA-KL-8346-01A-11D-2310-10	24136522	90119273	12412119	53	40070											
ALDOA	226	broad.mit.edu	37	16	30079974	30079974	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr16:30079974A>G	ENST00000566897.1	+	7	1484	c.332A>G	c.(331-333)aAg>aGg	p.K111R	ALDOA_ENST00000563060.2_Missense_Mutation_p.K111R|ALDOA_ENST00000564546.1_Missense_Mutation_p.K111R|ALDOA_ENST00000412304.2_Missense_Mutation_p.K111R|ALDOA_ENST00000564595.2_Missense_Mutation_p.K165R|ALDOA_ENST00000338110.5_Missense_Mutation_p.K111R|ALDOA_ENST00000569798.1_Missense_Mutation_p.K111R|ALDOA_ENST00000395248.1_Missense_Mutation_p.K165R|ALDOA_ENST00000569545.1_Missense_Mutation_p.K111R|ALDOA_ENST00000395240.3_Missense_Mutation_p.K111R			P04075	ALDOA_HUMAN	aldolase A, fructose-bisphosphate	111					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						CAGGTAGACAAGGGCGTGGTC	0.547																																																0													131	114	120					16																	30079974		2197	4300	6497	SO:0001583	missense	226			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.332A>G	16.37:g.30079974A>G	ENSP00000455724:p.Lys111Arg		B4DXI7|Q6FH76|Q6FI10|Q96B15|Q9BWD9|Q9UCN2	Missense_Mutation	SNP	ENST00000566897.1	37	CCDS10668.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.408417	0.83340	.	.	ENSG00000149925	ENST00000395248;ENST00000338110;ENST00000412304;ENST00000395240	D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42	5.79	5.79	0.91817	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.91653	0.7362	M	0.86343	2.81	0.80722	D	1	B	0.20780	0.048	B	0.32533	0.147	D	0.90146	0.4217	10	0.87932	D	0	.	15.105	0.72315	1.0:0.0:0.0:0.0	.	111	P04075	ALDOA_HUMAN	R	165;111;111;111	ENSP00000378669:K165R;ENSP00000336927:K111R;ENSP00000400452:K111R;ENSP00000378661:K111R	ENSP00000336927:K111R	K	+	2	0	ALDOA	29987475	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	9.021000	0.93673	2.208000	0.71279	0.533000	0.62120	AAG		0.547	ALDOA-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435360.1	NM_000034		G	30079974	A	G	30079974	3	3	715	1	0	0	0	0	1	0	0	0	507	72	3	3	342	3	ALDOA	16	30079974	Missense_Mutation	SNP	A	TCGA-KL-8346-01A-11D-2310-10		30079974	60274779	54	40071											
MYO15A	51168	broad.mit.edu	37	17	18042900	18042900	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr17:18042900A>G	ENST00000205890.5	+	19	5524	c.5186A>G	c.(5185-5187)gAc>gGc	p.D1729G	MYO15A_ENST00000412324.1_3'UTR	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1729	Myosin motor.				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)					GATGTGCTGGACCTGTTCGTA	0.632																																																0													72	80	78					17																	18042900		2100	4213	6313	SO:0001583	missense	51168			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.5186A>G	17.37:g.18042900A>G	ENSP00000205890:p.Asp1729Gly		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	A	13.83	2.354688	0.41700	.	.	ENSG00000091536	ENST00000205890	D	0.87179	-2.22	4.6	4.6	0.57074	Myosin head, motor domain (2);	.	.	.	.	D	0.87099	0.6093	N	0.24115	0.695	0.80722	D	1	D	0.56968	0.978	P	0.62649	0.905	D	0.88388	0.3006	9	0.72032	D	0.01	.	12.0361	0.53425	1.0:0.0:0.0:0.0	.	1729	Q9UKN7	MYO15_HUMAN	G	1729	ENSP00000205890:D1729G	ENSP00000205890:D1729G	D	+	2	0	MYO15A	17983625	1.000000	0.71417	0.983000	0.44433	0.388000	0.30384	8.963000	0.93385	1.854000	0.53819	0.379000	0.24179	GAC		0.632	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		G	18042900	A	G	18042900	3	3	715	1	0	0	0	0	1	0	0	0	10065	275	10	3	5252	3	MYO15A	17	18042900	Missense_Mutation	SNP	A	TCGA-KL-8346-01A-11D-2310-10		18042900	63152310	55	40072											
ITGB4	3691	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	17	73727413	73727413	+	Silent	SNP	G	G	T			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr17:73727413G>T	ENST00000200181.3	+	10	1366	c.1179G>T	c.(1177-1179)acG>acT	p.T393T	ITGB4_ENST00000339591.3_Silent_p.T393T|ITGB4_ENST00000579662.1_Silent_p.T393T|ITGB4_ENST00000449880.2_Silent_p.T393T|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000450894.3_Silent_p.T393T	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	393					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)			TCCAGAAGACGAGGACTGGGT	0.642																																																0													62	61	62					17																	73727413		2203	4300	6503	SO:0001819	synonymous_variant	3691				CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"CD molecules", "Integrins", "Fibronectin type III domain containing"	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.1179G>T	17.37:g.73727413G>T			A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Silent	SNP	ENST00000200181.3	37	CCDS11727.1																																																																																				0.642	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			T	73727413	G	T	73727413	2	4	715	1	0	0	0	0	0	0	0	1	7899	1045	37	4		4	ITGB4	17	73727413	Silent	SNP	G	TCGA-KL-8346-01A-11D-2310-10	55684513	73727413	7467797	56	40073											
SLC38A10	124565	ucsc.edu	37	17	79219503	79219503	+	Silent	SNP	G	G	A	rs10569617|rs3833102	byFrequency	TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr17:79219503G>A	ENST00000374759.3	-	16	3596	c.3213C>T	c.(3211-3213)atC>atT	p.I1071I		NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	1071				Missing (in Ref. 5; AAG17235). {ECO:0000305}.	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)			TAAGGCCAATGATGACCCCAT	0.687																																																0													30	24	26					17																	79219503		2038	3935	5973	SO:0001819	synonymous_variant	124565			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.3213C>T	17.37:g.79219503G>A			Q6ZRC5|Q8NA99|Q96C66	Silent	SNP	ENST00000374759.3	37	CCDS42397.1																																																																																				0.687	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397747.1	NM_138570		A	79219503	G	A	79219503	2	1	715	1	0	0	0	0	0	0	0	1	14608	1280	45	2		2	SLC38A10	17	79219503	Silent	SNP	G	TCGA-KL-8346-01A-11D-2310-10	5492090	79219503	1975707	57	40074											
VAPA	9218	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	18	9954094	9954094	+	Silent	SNP	T	T	A			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr18:9954094T>A	ENST00000400000.2	+	6	891	c.636T>A	c.(634-636)ccT>ccA	p.P212P	VAPA_ENST00000340541.4_Silent_p.P257P|VAPA_ENST00000584796.1_3'UTR	NM_003574.5|NM_194434.2	NP_003565.4|NP_919415.2	Q9P0L0	VAPA_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa	212					cell death (GO:0008219)|membrane fusion (GO:0061025)|neuron projection development (GO:0031175)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein localization to endoplasmic reticulum (GO:0070972)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	protein heterodimerization activity (GO:0046982)|signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(1)|lung(2)|prostate(1)	4						CGGATAAACCTGGATCAACCT	0.388																																																0													193	174	180					18																	9954094		1903	4112	6015	SO:0001819	synonymous_variant	9218				CCDS11847.2, CCDS11848.2	18p11.2	2008-07-28	2002-08-29		ENSG00000101558	ENSG00000101558			12648	protein-coding gene	gene with protein product		605703	"VAMP (vesicle-associated membrane protein)-associated protein A (33kD)"			9920726, 9657962	Standard	NM_003574		Approved	hVAP-33, VAP-A	uc002koj.3	Q9P0L0	OTTHUMG00000131603	ENST00000400000.2:c.636T>A	18.37:g.9954094T>A			A6NDZ0|D3DUI3|O75453|Q5U0E7|Q9UBZ2	Silent	SNP	ENST00000400000.2	37	CCDS11848.2																																																																																				0.388	VAPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254490.1			A	9954094	T	A	9954094	2	1	715	1	0	0	0	0	0	0	0	1	17126	1567	55	5		5	VAPA	18	9954094	Silent	SNP	T	TCGA-KL-8346-01A-11D-2310-10		9954094	68123154	58	40075											
TBXA2R	6915	broad.mit.edu	37	19	3595778	3595778	+	Missense_Mutation	SNP	C	C	A			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr19:3595778C>A	ENST00000375190.4	-	3	1333	c.940G>T	c.(940-942)Gcc>Tcc	p.A314S	TBXA2R_ENST00000587717.1_5'Flank|TBXA2R_ENST00000589966.1_Missense_Mutation_p.R184L|TBXA2R_ENST00000411851.3_Missense_Mutation_p.A314S	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	314					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)	CGGAGCACGGCGCGGCGGAAC	0.677																																																0													18	23	21					19																	3595778		2173	4273	6446	SO:0001583	missense	6915				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.940G>T	19.37:g.3595778C>A	ENSP00000364336:p.Ala314Ser		O75228|Q6DK52|Q9UCY1|Q9UCY2	Missense_Mutation	SNP	ENST00000375190.4	37	CCDS42467.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.385036	0.61956	.	.	ENSG00000006638	ENST00000411851;ENST00000375190	T;T	0.44482	1.27;0.92	5.27	3.03	0.35002	.	0.207524	0.39615	N	0.001305	T	0.26304	0.0642	N	0.19112	0.55	0.33934	D	0.642444	P	0.37781	0.608	B	0.34346	0.18	T	0.32719	-0.9896	10	0.35671	T	0.21	-19.7154	12.63	0.56651	0.311:0.689:0.0:0.0	.	314	P21731	TA2R_HUMAN	S	314	ENSP00000393333:A314S;ENSP00000364336:A314S	ENSP00000364336:A314S	A	-	1	0	TBXA2R	3546778	0.978000	0.34361	0.513000	0.27749	0.219000	0.24729	2.240000	0.43088	0.527000	0.28560	0.561000	0.74099	GCC		0.677	TBXA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453081.2			A	3595778	C	A	3595778	3	1	715	1	0	0	0	0	1	0	0	0	15668	768	27	4	340	4	TBXA2R	19	3595778	Missense_Mutation	SNP	C	TCGA-KL-8346-01A-11D-2310-10		3595778	55533205	59	40076											
CACNA1A	773	broad.mit.edu	37	19	13372388	13372388	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr19:13372388C>T	ENST00000360228.5	-	26	4125	c.4126G>A	c.(4126-4128)Gtc>Atc	p.V1376I	CACNA1A_ENST00000573710.2_Missense_Mutation_p.V1377I	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1377					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	ATGTTGAAGACGTTTTTAAGT	0.522																																																0													57	56	57					19																	13372388		2078	4204	6282	SO:0001583	missense	773			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.4126G>A	19.37:g.13372388C>T	ENSP00000353362:p.Val1376Ile		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.094267	0.56075	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.98060	-4.69	4.17	4.17	0.49024	Ion transport (1);	0.087480	0.46145	D	0.000318	D	0.96920	0.8994	N	0.17564	0.495	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.77004	0.985;0.974;0.989	D	0.97476	1.0044	10	0.48119	T	0.1	.	15.2662	0.73663	0.0:1.0:0.0:0.0	.	1377;1380;1376	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	I	1376;1380;1377;1377	ENSP00000353362:V1376I	ENSP00000317661:V1377I	V	-	1	0	CACNA1A	13233388	1.000000	0.71417	0.995000	0.50966	0.524000	0.34500	7.757000	0.85209	1.884000	0.54569	0.561000	0.74099	GTC		0.522	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		T	13372388	C	T	13372388	3	4	715	1	0	0	0	0	1	0	0	0	2540	536	19	1	3584	1	CACNA1A	19	13372388	Missense_Mutation	SNP	C	TCGA-KL-8346-01A-11D-2310-10	9776610	13372388	45756595	60	40077											
ZNF676	163223	mdanderson.org	37	19	22363610	22363610	+	Silent	SNP	A	A	G	rs201622264	byFrequency	TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr19:22363610A>G	ENST00000397121.2	-	3	1226	c.909T>C	c.(907-909)caT>caC	p.H303H		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	303					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)				TCTCTCCAGTATGAATTCTCT	0.443																																																0													81	83	83					19																	22363610		2112	4258	6370	SO:0001819	synonymous_variant	163223			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.909T>C	19.37:g.22363610A>G			A8MVX5	Silent	SNP	ENST00000397121.2	37	CCDS42539.1																																																																																				0.443	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		G	22363610	A	G	22363610	2	3	715	1	0	0	0	0	0	0	0	1	18088	446	16	3		3	ZNF676	19	22363610	Silent	SNP	A	TCGA-KL-8346-01A-11D-2310-10	8991222	22363610	36765373	61	40078	343	2									
ZNF676	163223	mdanderson.org	37	19	22363615	22363615	+	Missense_Mutation	SNP	T	T	C	rs76328545	byFrequency	TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr19:22363615T>C	ENST00000397121.2	-	3	1221	c.904A>G	c.(904-906)Att>Gtt	p.I302V		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	302					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)				CCAGTATGAATTCTCTTATGT	0.428																																																0													85	88	87					19																	22363615		2125	4266	6391	SO:0001583	missense	163223			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.904A>G	19.37:g.22363615T>C	ENSP00000380310:p.Ile302Val		A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	0.103	-1.149580	0.01714	.	.	ENSG00000196109	ENST00000397121	T	0.00986	5.47	0.85	-1.7	0.08159	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00580	0.0019	N	0.05534	-0.03	0.20196	N	0.999929	B	0.15930	0.015	B	0.18871	0.023	T	0.51004	-0.8760	9	0.62326	D	0.03	.	0.401	0.00426	0.2032:0.1668:0.2049:0.4252	.	302	Q8N7Q3	ZN676_HUMAN	V	302	ENSP00000380310:I302V	ENSP00000380310:I302V	I	-	1	0	ZNF676	22155455	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-0.149000	0.10204	-3.301000	0.00192	-3.318000	0.00044	ATT		0.428	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		C	22363615	T	C	22363615	3	2	715	1	0	0	0	0	1	0	0	0	18088	1493	52	3	866	3	ZNF676	19	22363615	Missense_Mutation	SNP	T	TCGA-KL-8346-01A-11D-2310-10	5	22363615	36765368	62	40079	343	2									
THAP8	199745	broad.mit.edu	37	19	36526406	36526406	+	Missense_Mutation	SNP	T	T	G			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr19:36526406T>G	ENST00000292894.1	-	4	1305	c.761A>C	c.(760-762)gAc>gCc	p.D254A	CLIP3_ENST00000593074.1_5'Flank|AC002116.7_ENST00000586962.1_RNA|THAP8_ENST00000538849.1_Missense_Mutation_p.D109A|CLIP3_ENST00000360535.4_5'Flank	NM_152658.2	NP_689871.1	Q8NA92	THAP8_HUMAN	THAP domain containing 8	254							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AGGTGCAGGGTCCTGGGCAAG	0.552																																																0													99	88	92					19																	36526406		2203	4300	6503	SO:0001583	missense	199745			AK057453	CCDS33000.1	19q13.13	2013-01-25			ENSG00000161277	ENSG00000161277		"THAP (C2CH-type zinc finger) domain containing"	23191	protein-coding gene	gene with protein product		612536				12575992	Standard	NM_152658		Approved	FLJ32891	uc002oda.1	Q8NA92	OTTHUMG00000048138	ENST00000292894.1:c.761A>C	19.37:g.36526406T>G	ENSP00000292894:p.Asp254Ala		Q0P5Z7|Q96M21	Missense_Mutation	SNP	ENST00000292894.1	37	CCDS33000.1	.	.	.	.	.	.	.	.	.	.	t	4.894	0.166084	0.09339	.	.	ENSG00000161277	ENST00000292894;ENST00000392182;ENST00000538849	D;T	0.87729	-2.29;1.79	2.92	-0.456	0.12190	.	5.545120	0.01495	U	0.017275	T	0.74831	0.3768	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.62695	-0.6800	10	0.34782	T	0.22	.	6.8993	0.24273	0.0:0.6457:0.0:0.3543	.	254	Q8NA92	THAP8_HUMAN	A	254;254;109	ENSP00000292894:D254A;ENSP00000445493:D109A	ENSP00000292894:D254A	D	-	2	0	THAP8	41218246	0.001000	0.12720	0.033000	0.17914	0.274000	0.26718	-0.096000	0.11059	-0.007000	0.14345	-0.141000	0.14075	GAC		0.552	THAP8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379036.1	NM_152658		G	36526406	T	G	36526406	3	3	715	1	0	0	0	0	1	0	0	0	15855	1667	58	5	67	5	THAP8	19	36526406	Missense_Mutation	SNP	T	TCGA-KL-8346-01A-11D-2310-10	14162791	36526406	22602577	63	40080											
RYR1	6261	ucsc.edu;bcgsc.ca	37	19	39017691	39017691	+	Splice_Site	SNP	A	A	G			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr19:39017691A>G	ENST00000359596.3	+	72	10685	c.10685A>G	c.(10684-10686)aAg>aGg	p.K3562R	AC067969.1_ENST00000597015.1_RNA|RYR1_ENST00000360985.3_Splice_Site_p.K3562R|RYR1_ENST00000355481.4_Splice_Site_p.K3557R			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3562					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)	CTTCAGGGAAAGGTATGCCTC	0.478																																																0													99	83	88					19																	39017691		2203	4300	6503	SO:0001630	splice_region_variant	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.10686+1A>G	19.37:g.39017691A>G			Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	A	14.24	2.475382	0.43942	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985;ENST00000538206	D;D;D	0.97505	-4.4;-4.41;-4.4	4.36	4.36	0.52297	.	0.000000	0.64402	U	0.000001	D	0.98353	0.9453	M	0.86420	2.815	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.997	D;D;D	0.78314	0.991;0.991;0.98	D	0.99126	1.0851	10	0.72032	D	0.01	.	12.6906	0.56972	1.0:0.0:0.0:0.0	.	3562;3557;3562	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	R	3562;3557;3562;482	ENSP00000352608:K3562R;ENSP00000347667:K3557R;ENSP00000354254:K3562R	ENSP00000347667:K3557R	K	+	2	0	RYR1	43709531	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	8.857000	0.92250	1.826000	0.53198	0.383000	0.25322	AAG		0.478	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		Missense_Mutation	G	39017691	A	G	39017691	5	3	715	1	0	0	0	0	0	0	1	0	13774	86	3	3	10971	3	RYR1	19	39017691	Splice_Site	SNP	A	TCGA-KL-8346-01A-11D-2310-10	2491285	39017691	20111292	64	40081											
HAS1	3036	ucsc.edu;bcgsc.ca	37	19	52222713	52222713	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr19:52222713C>T	ENST00000222115.1	-	2	482	c.448G>A	c.(448-450)Gag>Aag	p.E150K	HAS1_ENST00000601714.1_Missense_Mutation_p.E157K|HAS1_ENST00000594621.1_Missense_Mutation_p.E4K|HAS1_ENST00000540069.2_Missense_Mutation_p.E149K	NM_001523.2	NP_001514.2	Q92839	HYAS1_HUMAN	hyaluronan synthase 1	150					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)		GCGAAGACCTCGCGGAACATG	0.721																																					NSCLC(132;636 2450 45807 47979)											0													12	10	11					19																	52222713		2086	4031	6117	SO:0001583	missense	3036			U59269	CCDS12838.1, CCDS74436.1	19q13.3-q13.4	2013-02-22			ENSG00000105509	ENSG00000105509	2.4.1.212	"Glycosyltransferase family 2 domain containing"	4818	protein-coding gene	gene with protein product		601463		HAS		9169154	Standard	XM_005258834		Approved		uc002pxo.1	Q92839		ENST00000222115.1:c.448G>A	19.37:g.52222713C>T	ENSP00000222115:p.Glu150Lys		Q14470|Q9NS49	Missense_Mutation	SNP	ENST00000222115.1	37	CCDS12838.1	.	.	.	.	.	.	.	.	.	.	.	29.9	5.044425	0.93685	.	.	ENSG00000105509	ENST00000540069;ENST00000222115;ENST00000376737;ENST00000376738	T;T	0.58797	0.31;0.31	3.83	3.83	0.44106	.	0.000000	0.85682	D	0.000000	T	0.69602	0.3129	L	0.57536	1.79	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;P;P	0.68353	0.957;0.906;0.906	T	0.71133	-0.4681	10	0.46703	T	0.11	-27.3058	13.5905	0.61957	0.0:1.0:0.0:0.0	.	149;150;149	G3V1S7;Q92839;Q8IYH3	.;HAS1_HUMAN;.	K	149;150;4;4	ENSP00000445021:E149K;ENSP00000222115:E150K	ENSP00000222115:E150K	E	-	1	0	HAS1	56914525	0.999000	0.42202	1.000000	0.80357	0.953000	0.61014	4.463000	0.60128	1.832000	0.53329	0.423000	0.28283	GAG		0.721	HAS1-005	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466953.1	NM_001523		T	52222713	C	T	52222713	3	4	715	1	0	0	0	0	1	0	0	0	6963	893	31	1	1304	1	HAS1	19	52222713	Missense_Mutation	SNP	C	TCGA-KL-8346-01A-11D-2310-10	13205022	52222713	6906270	65	40082											
ZNF28	7576	mdanderson.org	37	19	53303182	53303182	+	Missense_Mutation	SNP	T	T	C	rs142391659		TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr19:53303182T>C	ENST00000457749.2	-	4	2035	c.1916A>G	c.(1915-1917)gAg>gGg	p.E639G	ZNF28_ENST00000414252.2_Missense_Mutation_p.E586G|ZNF28_ENST00000438150.2_Missense_Mutation_p.E586G|ZNF28_ENST00000360272.4_Missense_Mutation_p.E586G	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	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)|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)		CTTGCCACACTCATTACACTT	0.428																																																0													193	181	185					19																	53303182		2203	4300	6503	SO:0001583	missense	7576			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.1916A>G	19.37:g.53303182T>C	ENSP00000397693:p.Glu639Gly		A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Missense_Mutation	SNP	ENST00000457749.2	37	CCDS33093.2	.	.	.	.	.	.	.	.	.	.	-	10.84	1.465403	0.26335	.	.	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252	T;T;T;T	0.35789	1.29;1.29;1.29;1.29	1.81	0.634	0.17718	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40546	0.1121	L	0.47716	1.5	0.09310	N	1	D	0.60575	0.988	P	0.55615	0.78	T	0.22695	-1.0209	9	0.72032	D	0.01	.	5.8153	0.18490	0.2376:0.0:0.0:0.7624	.	639	P17035	ZNF28_HUMAN	G	586;639;586;586	ENSP00000412143:E586G;ENSP00000397693:E639G;ENSP00000353410:E586G;ENSP00000444965:E586G	ENSP00000353410:E586G	E	-	2	0	ZNF28	57994994	0.000000	0.05858	0.024000	0.17045	0.568000	0.35870	-0.093000	0.11111	-0.035000	0.13691	0.248000	0.18094	GAG		0.428	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969		C	53303182	T	C	53303182	3	2	715	1	0	0	0	0	1	0	0	0	17818	1551	54	3	244	3	ZNF28	19	53303182	Missense_Mutation	SNP	T	TCGA-KL-8346-01A-11D-2310-10	1080469	53303182	5825801	66	40083											
ZGPAT	84619	ucsc.edu	37	20	62340424	62340424	+	Silent	SNP	T	T	G			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr20:62340424T>G	ENST00000328969.5	+	2	619	c.492T>G	c.(490-492)ggT>ggG	p.G164G	ARFRP1_ENST00000324228.2_5'Flank|ZGPAT_ENST00000355969.6_Silent_p.G164G|ARFRP1_ENST00000609142.1_5'Flank|ZGPAT_ENST00000369967.3_Silent_p.G164G|ZGPAT_ENST00000448100.2_Silent_p.G164G|ARFRP1_ENST00000440854.1_5'Flank|ZGPAT_ENST00000357119.4_Silent_p.G164G|ARFRP1_ENST00000607873.1_5'Flank|ZGPAT_ENST00000478385.1_3'UTR|ARFRP1_ENST00000359715.5_5'Flank|RP4-583P15.15_ENST00000490623.2_Missense_Mutation_p.V70G	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	164					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)					GCTCGGCGGGTGTCCGTGTGC	0.592																																																0													95	93	94					20																	62340424		2203	4300	6503	SO:0001819	synonymous_variant	84619			AK027878	CCDS13534.1, CCDS13535.1, CCDS56203.1	20q13.3	2013-01-28	2004-12-01	2004-12-01	ENSG00000197114	ENSG00000197114		"Zinc fingers, CCCH-type domain containing", "G patch domain containing"	15948	protein-coding gene	gene with protein product			"KIAA1847"	KIAA1847		16952911	Standard	NM_181485		Approved	dJ583P15.3, MGC44880, FLJ14972, ZC3HDC9, ZC3H9, GPATC6, GPATCH6, ZIP	uc002ygk.3	Q8N5A5	OTTHUMG00000032998	ENST00000328969.5:c.492T>G	20.37:g.62340424T>G			E1P5K1|Q4VXN9|Q5JWI9|Q5JWJ0|Q8NC55|Q8WUV4|Q96JI0|Q96JU4|Q9H401	Silent	SNP	ENST00000328969.5	37	CCDS13534.1																																																																																				0.592	ZGPAT-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080214.1	NM_181484		G	62340424	T	G	62340424	2	3	715	1	0	0	0	0	0	0	0	1	17679	1683	59	5		5	ZGPAT	20	62340424	Silent	SNP	T	TCGA-KL-8346-01A-11D-2310-10		62340424	685096	67	40084											
CARD10	29775	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	22	37888769	37888769	+	Silent	SNP	C	C	T	rs377009692	byFrequency	TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr22:37888769C>T	ENST00000403299.1	-	18	2733	c.2517G>A	c.(2515-2517)ccG>ccA	p.P839P	CARD10_ENST00000406271.3_Silent_p.P553P|CARD10_ENST00000251973.5_Silent_p.P839P			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	839					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)	receptor signaling complex scaffold activity (GO:0030159)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					ACACCAGTAGCGGCCGCACCA	0.662													C|||	31	0.0061901	0.0	0.0	5008	,	,		14734	0.0		0.0	False		,,,				2504	0.0317															0								C		1,4405	2.1+/-5.4	0,1,2202	30	30	30		2517	-9.7	0.3	22		30	0,8598		0,0,4299	no	coding-synonymous	CARD10	NM_014550.3		0,1,6501	TT,TC,CC		0.0,0.0227,0.0077		839/1033	37888769	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	29775			AF086324	CCDS13948.1	22q13.1	2008-05-22			ENSG00000100065	ENSG00000100065			16422	protein-coding gene	gene with protein product		607209				11259443, 11356195	Standard	NM_014550		Approved	CARMA3, BIMP1	uc003asu.1	Q9BWT7	OTTHUMG00000150592	ENST00000403299.1:c.2517G>A	22.37:g.37888769C>T			Q14CQ8|Q5TFG6|Q8NC81|Q9UGR5|Q9UGR6|Q9Y3H0	Silent	SNP	ENST00000403299.1	37	CCDS13948.1																																																																																				0.662	CARD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318997.1	NM_014550		T	37888769	C	T	37888769	2	4	715	1	0	0	0	0	0	0	0	1	2646	755	27	1		1	CARD10	22	37888769	Silent	SNP	C	TCGA-KL-8346-01A-11D-2310-10		37888769	13415797	68	40085											
MICALL1	85377	broad.mit.edu;hgsc.bcm.edu	37	22	38328810	38328810	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr22:38328810C>T	ENST00000215957.6	+	12	2275	c.2149C>T	c.(2149-2151)Cgt>Tgt	p.R717C	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	717	Necessary and sufficient to associate with tubular recycling endosome membranes, mediate phosphatidic acid- binding and membrane tubulation.|RAB-binding domain (RBD); mediates the interaction with RAB13 and RAB35 and intramolecular interaction with the CH domain.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|neuron projection development (GO:0031175)|protein localization to endosome (GO:0036010)|protein targeting to membrane (GO:0006612)|receptor-mediated endocytosis (GO:0006898)|retrograde transport, endosome to plasma membrane (GO:1990126)|slow endocytic recycling (GO:0032458)	extrinsic component of membrane (GO:0019898)|late endosome (GO:0005770)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					TCCAGAGGGCCGTGAGGATGA	0.637																																																0													73	61	65					22																	38328810		2203	4300	6503	SO:0001583	missense	85377			BK000466	CCDS13961.1	22q13.1	2006-11-24			ENSG00000100139	ENSG00000100139			29804	protein-coding gene	gene with protein product	"molecule interacting with Rab13"					11258795, 12110185	Standard	NM_033386		Approved	MIRAB13, KIAA1668, MICAL-L1	uc003aui.3	Q8N3F8	OTTHUMG00000150670	ENST00000215957.6:c.2149C>T	22.37:g.38328810C>T	ENSP00000215957:p.Arg717Cys		Q5TI16|Q7RTP5|Q8N3N8|Q9BVL9|Q9BY92|Q9UH43|Q9UH44|Q9UH45	Missense_Mutation	SNP	ENST00000215957.6	37	CCDS13961.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.60|15.60	2.880935|2.880935	0.51801|0.51801	.|.	.|.	ENSG00000100139|ENSG00000100139	ENST00000454685|ENST00000215957;ENST00000402631;ENST00000424008	.|T;T;T	.|0.44881	.|0.91;0.91;0.91	5.17|5.17	1.7|1.7	0.24286|0.24286	.|Domain of unknown function DUF3585 (1);	.|0.580733	.|0.17003	.|N	.|0.190850	T|T	0.29158|0.29158	0.0725|0.0725	L|L	0.36672|0.36672	1.1|1.1	0.58432|0.58432	D|D	0.999995|0.999995	.|B	.|0.20052	.|0.041	.|B	.|0.12837	.|0.008	T|T	0.08953|0.08953	-1.0697|-1.0697	5|10	.|0.72032	.|D	.|0.01	.|.	5.5158|5.5158	0.16906|0.16906	0.1382:0.5376:0.2524:0.0718|0.1382:0.5376:0.2524:0.0718	.|.	.|717	.|Q8N3F8	.|MILK1_HUMAN	L|C	292|717;144;31	.|ENSP00000215957:R717C;ENSP00000384608:R144C;ENSP00000416766:R31C	.|ENSP00000215957:R717C	P|R	+|+	2|1	0|0	MICALL1|MICALL1	36658756|36658756	0.784000|0.784000	0.28713|0.28713	0.998000|0.998000	0.56505|0.56505	0.978000|0.978000	0.69477|0.69477	1.285000|1.285000	0.33261|0.33261	0.213000|0.213000	0.20722|0.20722	-0.282000|-0.282000	0.10007|0.10007	CCG|CGT		0.637	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319545.4	NM_033386		T	38328810	C	T	38328810	3	4	715	1	0	0	0	0	1	0	0	0	9575	652	23	1	2195	1	MICALL1	22	38328810	Missense_Mutation	SNP	C	TCGA-KL-8346-01A-11D-2310-10	440041	38328810	12975756	69	40086											
CYP2D6	1565	mdanderson.org	37	22	42523539	42523539	+	Silent	SNP	A	A	G	rs28371726	byFrequency	TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr22:42523539A>G	ENST00000360608.5	-	7	1197	c.1083T>C	c.(1081-1083)caT>caC	p.H361H	NDUFA6-AS1_ENST00000439129.1_RNA|NDUFA6-AS1_ENST00000451451.1_RNA|NDUFA6-AS1_ENST00000595777.1_RNA|NDUFA6-AS1_ENST00000434834.1_RNA|NDUFA6-AS1_ENST00000600968.1_RNA|NDUFA6-AS1_ENST00000610250.1_RNA|NDUFA6-AS1_ENST00000536447.2_RNA|NDUFA6-AS1_ENST00000416037.2_RNA|CYP2D6_ENST00000359033.4_Silent_p.H310H|NDUFA6-AS1_ENST00000417327.1_RNA|CYP2D6_ENST00000389970.3_Silent_p.H361H	NM_000106.5	NP_000097	P10635	CP2D6_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	361					alkaloid catabolic process (GO:0009822)|alkaloid metabolic process (GO:0009820)|coumarin metabolic process (GO:0009804)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|isoquinoline alkaloid metabolic process (GO:0033076)|monoterpenoid metabolic process (GO:0016098)|negative regulation of binding (GO:0051100)|negative regulation of cellular organofluorine metabolic process (GO:0090350)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21					Abiraterone(DB05812)|Acebutolol(DB01193)|Acetaminophen(DB00316)|Ajmaline(DB01426)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alprenolol(DB00866)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amoxapine(DB00543)|Amphetamine(DB00182)|Amprenavir(DB00701)|Amsacrine(DB00276)|Antipyrine(DB01435)|Aprindine(DB01429)|Arformoterol(DB01274)|Aripiprazole(DB01238)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzatropine(DB00245)|Benzyl alcohol(DB06770)|Bepridil(DB01244)|Betaxolol(DB00195)|Bicalutamide(DB01128)|Biperiden(DB00810)|Bisoprolol(DB00612)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Caffeine(DB00201)|Captopril(DB01197)|Carbinoxamine(DB00748)|Carteolol(DB00521)|Carvedilol(DB01136)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Cisapride(DB00604)|Citalopram(DB00215)|Clemastine(DB00283)|Clevidipine(DB04920)|Clomipramine(DB01242)|Clonidine(DB00575)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Darifenacin(DB00496)|Debrisoquin(DB04840)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dihydrocodeine(DB01551)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronedarone(DB04855)|Duloxetine(DB00476)|Efavirenz(DB00625)|Eletriptan(DB00216)|Encainide(DB01228)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erlotinib(DB00530)|Escitalopram(DB01175)|Ethylmorphine(DB01466)|Etoricoxib(DB01628)|Felodipine(DB01023)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fingolimod(DB08868)|Flecainide(DB01195)|Flunarizine(DB04841)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Galantamine(DB00674)|Gefitinib(DB00317)|Glutethimide(DB01437)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Histamine Phosphate(DB00667)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Hydroxychloroquine(DB01611)|Hydroxyurea(DB01005)|Hydroxyzine(DB00557)|Idarubicin(DB01177)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Isoniazid(DB00951)|Itraconazole(DB01167)|Ketoconazole(DB01026)|L-DOPA(DB01235)|Labetalol(DB00598)|Lansoprazole(DB00448)|Lercanidipine(DB00528)|Levomilnacipran(DB08918)|Lidocaine(DB00281)|Lisuride(DB00589)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Lovastatin(DB00227)|Lumefantrine(DB06708)|Maprotiline(DB00934)|Mefloquine(DB00358)|Mepyramine(DB06691)|Mequitazine(DB01071)|Mesoridazine(DB00933)|Methadone(DB00333)|Methamphetamine(DB01577)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Methylnaltrexone(DB06800)|Methylphenidate(DB00422)|Methyprylon(DB01107)|Metoclopramide(DB01233)|Metoprolol(DB00264)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midodrine(DB00211)|Mifepristone(DB00834)|Minaprine(DB00805)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Morphine(DB00295)|Nateglinide(DB00731)|Nebivolol(DB04861)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niacin(DB00627)|Nicardipine(DB00622)|Nicergoline(DB00699)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitrofural(DB00336)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxamniquine(DB01096)|Oxprenolol(DB01580)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paliperidone(DB01267)|Palonosetron(DB00377)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Pergolide(DB01186)|Perhexiline(DB01074)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenformin(DB00914)|Phentermine(DB00191)|Pimozide(DB01100)|Pindolol(DB00960)|Pioglitazone(DB01132)|Piperazine(DB00592)|Pipotiazine(DB01621)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Primaquine(DB01087)|Procainamide(DB01035)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Pyrimethamine(DB00205)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Remoxipride(DB00409)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivastigmine(DB00989)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tapentadol(DB06204)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Terbinafine(DB00857)|Tetrabenazine(DB04844)|Theophylline(DB00277)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Timolol(DB00373)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tolterodine(DB01036)|Trabectedin(DB05109)|Tramadol(DB00193)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Trospium(DB00209)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vinorelbine(DB00361)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Ziprasidone(DB00246)|Zolpidem(DB00425)	GCTGCACCTCATGAATCACGG	0.602																																																0													119	93	102					22																	42523539		2202	4299	6501	SO:0001819	synonymous_variant	1565			M20403	CCDS33657.1, CCDS46721.1	22q13.1	2014-09-17	2003-01-14		ENSG00000100197	ENSG00000100197		"Cytochrome P450s"	2625	protein-coding gene	gene with protein product		124030	"cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6", "cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2", "cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2", "cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2", "cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2"	CYP2DL1, CYP2D7P2, CYP2D7BP, CYP2D8P2, CYP2D7AP		8449513	Standard	NM_000106		Approved	CPD6, P450-DB1, CYP2D, P450C2D	uc003bce.3	P10635	OTTHUMG00000150918	ENST00000360608.5:c.1083T>C	22.37:g.42523539A>G			Q16752|Q2XND6|Q2XND7|Q2XNE0|Q6B012|Q6NXU8	Silent	SNP	ENST00000360608.5	37	CCDS46721.1																																																																																				0.602	CYP2D6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320525.1			G	42523539	A	G	42523539	2	3	715	1	0	0	0	0	0	0	0	1	4171	214	8	3		3	CYP2D6	22	42523539	Silent	SNP	A	TCGA-KL-8346-01A-11D-2310-10	4194729	42523539	8781027	70	40087											
UBA1	7317	bcgsc.ca	37	X	47058254	47058254	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chrX:47058254A>G	ENST00000335972.6	+	2	236	c.53A>G	c.(52-54)aAg>aGg	p.K18R	UBA1_ENST00000377351.4_Missense_Mutation_p.K18R	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	18					cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|modification-dependent protein catabolic process (GO:0019941)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CCTGATCCAAAGCCGGGTTCT	0.602																																																0													98	75	83					X																	47058254		2203	4300	6503	SO:0001583	missense	7317			AF258566	CCDS14275.1	Xp11.23	2014-08-13	2007-11-30	2007-11-30	ENSG00000130985	ENSG00000130985	6.3.2.19	"Ubiquitin-like modifier activating enzymes"	12469	protein-coding gene	gene with protein product	"UBA1, ubiquitin-activating enzyme E1 homolog (yeast)", "POC20 centriolar protein homolog (Chlamydomonas)"	314370	"ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing)", "ubiquitin-activating enzyme E1"	A1S9T, GXP1, UBE1		1845793	Standard	NM_153280		Approved	UBE1X, POC20, CFAP124	uc004dhj.4	P22314	OTTHUMG00000021436	ENST00000335972.6:c.53A>G	X.37:g.47058254A>G	ENSP00000338413:p.Lys18Arg		Q5JRR8|Q96E13	Missense_Mutation	SNP	ENST00000335972.6	37	CCDS14275.1	.	.	.	.	.	.	.	.	.	.	A	19.47	3.833108	0.71258	.	.	ENSG00000130985	ENST00000377351;ENST00000412206;ENST00000427561;ENST00000442035;ENST00000457753;ENST00000335972;ENST00000451702	T;T;D;T;T;T;T	0.83335	0.93;-0.09;-1.71;-0.1;-1.2;0.93;-0.76	5.3	5.3	0.74995	.	0.047429	0.85682	D	0.000000	T	0.70850	0.3271	N	0.19112	0.55	0.80722	D	1	B	0.23735	0.09	B	0.21708	0.036	T	0.65981	-0.6036	10	0.17832	T	0.49	-11.736	13.4039	0.60900	1.0:0.0:0.0:0.0	.	18	P22314	UBA1_HUMAN	R	18;18;32;32;69;18;69	ENSP00000366568:K18R;ENSP00000415033:K18R;ENSP00000397816:K32R;ENSP00000389583:K32R;ENSP00000404796:K69R;ENSP00000338413:K18R;ENSP00000401101:K69R	ENSP00000338413:K18R	K	+	2	0	UBA1	46943198	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.578000	0.74032	1.876000	0.54355	0.483000	0.47432	AAG		0.602	UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056389.1	NM_003334		G	47058254	A	G	47058254	3	3	715	1	0	0	0	0	1	0	0	0	16832	72	3	3	55	3	UBA1	23	47058254	Missense_Mutation	SNP	A	TCGA-KL-8346-01A-11D-2310-10		47058254	108212306	71	40088											
ABCB7	22	broad.mit.edu	37	X	74273332	74273332	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chrX:74273332C>T	ENST00000373394.3	-	16	2139	c.2132G>A	c.(2131-2133)cGt>cAt	p.R711H	ABCB7_ENST00000253577.3_Missense_Mutation_p.R712H|ABCB7_ENST00000339447.4_Missense_Mutation_p.R671H			O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	711					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						GTTCTGCACACGGCTGCTCTG	0.408																																																0													106	86	92					X																	74273332		2203	4298	6501	SO:0001583	missense	22			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.2132G>A	X.37:g.74273332C>T	ENSP00000362492:p.Arg711His		G3XAC4|O75345|Q5VWY7|Q5VWY8|Q9BRE1|Q9UND1|Q9UP01	Missense_Mutation	SNP	ENST00000373394.3	37		.	.	.	.	.	.	.	.	.	.	C	12.56	1.976022	0.34848	.	.	ENSG00000131269	ENST00000535115;ENST00000253577;ENST00000339447;ENST00000373394;ENST00000529949	D;D;D;D	0.88354	-1.96;-1.96;-1.96;-2.37	5.76	2.67	0.31697	.	0.194650	0.50627	N	0.000119	T	0.75932	0.3917	N	0.17800	0.525	0.39586	D	0.969512	B;B;D;B;B	0.54601	0.006;0.051;0.967;0.006;0.051	B;B;B;B;B	0.38056	0.009;0.007;0.264;0.004;0.011	T	0.73078	-0.4096	10	0.46703	T	0.11	-22.0547	6.9083	0.24321	0.0:0.5756:0.1388:0.2856	.	685;671;712;711;712	G3V1J3;G3XAC4;B3KM98;O75027;O75027-2	.;.;.;ABCB7_HUMAN;.	H	685;712;671;711;685	ENSP00000253577:R712H;ENSP00000343849:R671H;ENSP00000362492:R711H;ENSP00000436586:R685H	ENSP00000253577:R712H	R	-	2	0	ABCB7	74190057	0.315000	0.24571	0.951000	0.38953	0.991000	0.79684	0.369000	0.20416	0.508000	0.28173	0.600000	0.82982	CGT		0.408	ABCB7-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000057274.1	NM_004299		T	74273332	C	T	74273332	3	4	715	1	0	0	0	0	1	0	0	0	46	536	19	1	130	1	ABCB7	23	74273332	Missense_Mutation	SNP	C	TCGA-KL-8346-01A-11D-2310-10	27215078	74273332	80997228	72	40089											
TCEAL4	79921	mdanderson.org	37	X	102842229	102842229	+	Missense_Mutation	SNP	T	T	C	rs201993261		TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chrX:102842229T>C	ENST00000472745.1	+	3	1178	c.626T>C	c.(625-627)aTt>aCt	p.I209T	TCEAL4_ENST00000472484.1_Missense_Mutation_p.I209T|TCEAL4_ENST00000494801.1_Missense_Mutation_p.I209T|TCEAL4_ENST00000415568.2_Missense_Mutation_p.I209T|TCEAL4_ENST00000468024.1_Missense_Mutation_p.I209T|TCEAL4_ENST00000372629.4_Missense_Mutation_p.I352T			Q96EI5	TCAL4_HUMAN	transcription elongation factor A (SII)-like 4	209					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.I352T(1)		endometrium(1)|kidney(1)|large_intestine(2)|skin(2)	6						CGAAGGGACATTGAAGACATT	0.498																																																1	Substitution - Missense(1)	skin(1)																																								SO:0001583	missense	79921			AF314542	CCDS14510.2, CCDS76004.1	Xq22.2	2014-03-21			ENSG00000133142	ENSG00000133142			26121	protein-coding gene	gene with protein product						14702039, 16221301	Standard	XM_005262192		Approved	FLJ21174, WEX7	uc004ekn.3	Q96EI5	OTTHUMG00000022103	ENST00000472745.1:c.626T>C	X.37:g.102842229T>C	ENSP00000424314:p.Ile209Thr		Q8WY12|Q9H2H1|Q9H775	Missense_Mutation	SNP	ENST00000472745.1	37	CCDS14510.2	.	.	.	.	.	.	.	.	.	.	T	9.922	1.212528	0.22289	.	.	ENSG00000133142	ENST00000372629;ENST00000468024;ENST00000472484;ENST00000415568;ENST00000414064;ENST00000472745;ENST00000494801	T;T;T;T;T;T	0.26660	1.72;1.82;1.82;1.82;1.82;1.82	3.73	-0.255	0.12988	.	1.237680	0.05849	N	0.620821	T	0.11410	0.0278	N	0.08118	0	0.21499	N	0.999669	B	0.02656	0.0	B	0.04013	0.001	T	0.28364	-1.0046	10	0.45353	T	0.12	.	0.6663	0.00851	0.2069:0.1222:0.2101:0.4607	.	209	Q96EI5	TCAL4_HUMAN	T	352;209;209;209;180;209;209	ENSP00000361712:I352T;ENSP00000421857:I209T;ENSP00000421156:I209T;ENSP00000415564:I209T;ENSP00000424314:I209T;ENSP00000427494:I209T	ENSP00000361712:I352T	I	+	2	0	TCEAL4	102728885	0.901000	0.30685	0.921000	0.36526	0.996000	0.88848	0.097000	0.15168	-0.120000	0.11809	0.425000	0.28330	ATT		0.498	TCEAL4-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252339.2	NM_024863		C	102842229	T	C	102842229	3	2	715	1	0	0	0	0	1	0	0	0	15678	1493	52	3	628	3	TCEAL4	23	102842229	Missense_Mutation	SNP	T	TCGA-KL-8346-01A-11D-2310-10	28568897	102842229	52428331	73	40090											
SLC25A5	292	mdanderson.org	37	X	118603756	118603756	+	Missense_Mutation	SNP	T	T	A			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chrX:118603756T>A	ENST00000317881.8	+	2	360	c.244T>A	c.(244-246)Ttc>Atc	p.F82I	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	82					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)	CATCAGATACTTCCCCACCCA	0.493																																																0													122	118	120					X																	118603756		2203	4300	6503	SO:0001583	missense	292			BC068199	CCDS14578.1	Xq24	2013-08-09			ENSG00000005022	ENSG00000005022		"Solute carriers"	10991	protein-coding gene	gene with protein product		300150		ANT2		2168878, 2829183	Standard	NM_001152		Approved	T2, 2F1, T3	uc004erh.4	P05141	OTTHUMG00000022715	ENST00000317881.8:c.244T>A	X.37:g.118603756T>A	ENSP00000360671:p.Phe82Ile		B2RCV1|O43350	Missense_Mutation	SNP	ENST00000317881.8	37	CCDS14578.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.146439	0.77888	.	.	ENSG00000005022	ENST00000317881	T	0.78003	-1.14	4.18	4.18	0.49190	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	T	0.81791	0.4897	M	0.83483	2.645	0.80722	D	1	P	0.47302	0.893	P	0.46718	0.525	D	0.84987	0.0892	10	0.87932	D	0	.	12.1849	0.54231	0.0:0.0:0.0:1.0	.	82	P05141	ADT2_HUMAN	I	82	ENSP00000360671:F82I	ENSP00000360671:F82I	F	+	1	0	SLC25A5	118487784	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.562000	0.82300	1.622000	0.50330	0.430000	0.28490	TTC		0.493	SLC25A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058952.2	NM_001152		A	118603756	T	A	118603756	3	1	715	1	0	0	0	0	1	0	0	0	14518	1609	56	5	250	5	SLC25A5	23	118603756	Missense_Mutation	SNP	T	TCGA-KL-8346-01A-11D-2310-10	15761527	118603756	36666804	74	40091											
MTMR1	8776	broad.mit.edu	37	X	149901024	149901024	+	Missense_Mutation	SNP	G	G	T			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chrX:149901024G>T	ENST00000370390.3	+	9	1035	c.878G>T	c.(877-879)tGg>tTg	p.W293L	MTMR1_ENST00000451863.2_Missense_Mutation_p.W293L|MTMR1_ENST00000541925.1_Missense_Mutation_p.W199L|MTMR1_ENST00000544228.1_Missense_Mutation_p.W293L|MTMR1_ENST00000445323.2_Missense_Mutation_p.W301L|MTMR1_ENST00000542156.1_Missense_Mutation_p.W293L|MTMR1_ENST00000538506.1_Missense_Mutation_p.W180L	NM_003828.2	NP_003819.1	Q13613	MTMR1_HUMAN	myotubularin related protein 1	293	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)					GTGTTGTCATGGATTCATCCG	0.408																																																0													67	55	59					X																	149901024		2203	4300	6503	SO:0001583	missense	8776			U58032	CCDS14695.1	Xq28	2011-06-09			ENSG00000063601	ENSG00000063601		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7449	protein-coding gene	gene with protein product		300171				9828128	Standard	XM_005274765		Approved		uc004fei.3	Q13613	OTTHUMG00000024159	ENST00000370390.3:c.878G>T	X.37:g.149901024G>T	ENSP00000359417:p.Trp293Leu		A0A024RC07|Q9UBX6|Q9UEM0|Q9UQD5	Missense_Mutation	SNP	ENST00000370390.3	37	CCDS14695.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.585470	0.86748	.	.	ENSG00000063601	ENST00000541925;ENST00000542156;ENST00000370390;ENST00000445323;ENST00000544228;ENST00000451863;ENST00000538506	D;D;D;D;D;D;D	0.93076	-3.16;-3.16;-3.16;-3.16;-3.16;-3.16;-3.16	5.93	5.07	0.68467	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.000000	0.85682	D	0.000000	D	0.98160	0.9392	H	0.98802	4.335	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	D	0.98869	1.0765	10	0.87932	D	0	.	14.3739	0.66860	0.0726:0.0:0.9274:0.0	.	293;301;293	Q13613;F8WA39;Q8NEC6	MTMR1_HUMAN;.;.	L	199;293;293;301;293;293;180	ENSP00000441879:W199L;ENSP00000445281:W293L;ENSP00000359417:W293L;ENSP00000414178:W301L;ENSP00000440534:W293L;ENSP00000387446:W293L;ENSP00000443444:W180L	ENSP00000359417:W293L	W	+	2	0	MTMR1	149651682	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	9.869000	0.99810	1.261000	0.44149	0.523000	0.50628	TGG		0.408	MTMR1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060863.2	NM_003828, NM_176789		T	149901024	G	T	149901024	3	4	715	1	0	0	0	0	1	0	0	0	9940	1357	47	4	912	4	MTMR1	23	149901024	Missense_Mutation	SNP	G	TCGA-KL-8346-01A-11D-2310-10	31297268	149901024	5369536	75	40092											
H6PD	9563	broad.mit.edu	37	1	9324408	9324408	+	Missense_Mutation	SNP	T	T	G			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr1:9324408T>G	ENST00000377403.2	+	5	2158	c.1856T>G	c.(1855-1857)gTt>gGt	p.V619G	H6PD_ENST00000602477.1_Missense_Mutation_p.V630G	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	619	6-phosphogluconolactonase.				pentose-phosphate shunt (GO:0006098)|response to alcohol (GO:0097305)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	6-phosphogluconolactonase activity (GO:0017057)|carbohydrate binding (GO:0030246)|glucose 1-dehydrogenase [NAD(P)] activity (GO:0047936)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)		CTGTGGCTGGTTGACGAGCGC	0.677																																																0													19	21	20					1																	9324408		2190	4286	6476	SO:0001583	missense	9563			AJ012590	CCDS101.1, CCDS72697.1	1p36	2008-02-05	2003-10-10		ENSG00000049239	ENSG00000049239	1.1.1.47		4795	protein-coding gene	gene with protein product		138090	"glucose dehyrogenase"	GDH		10349511	Standard	NM_001282587		Approved		uc001apt.3	O95479	OTTHUMG00000001768	ENST00000377403.2:c.1856T>G	1.37:g.9324408T>G	ENSP00000366620:p.Val619Gly		Q4TT33|Q66I35|Q68DT3	Missense_Mutation	SNP	ENST00000377403.2	37	CCDS101.1	.	.	.	.	.	.	.	.	.	.	T	17.48	3.400189	0.62177	.	.	ENSG00000049239	ENST00000377403	T	0.39406	1.08	5.16	2.85	0.33270	Glucosamine/galactosamine-6-phosphate isomerase (1);6-phosphogluconolactonase, DevB-type (1);	0.058049	0.64402	D	0.000002	T	0.48892	0.1525	L	0.31926	0.97	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.43925	-0.9361	10	0.87932	D	0	-29.2922	8.7296	0.34491	0.0:0.1543:0.0:0.8457	.	619	O95479	G6PE_HUMAN	G	619	ENSP00000366620:V619G	ENSP00000366620:V619G	V	+	2	0	H6PD	9246995	1.000000	0.71417	0.738000	0.30950	0.966000	0.64601	3.810000	0.55613	0.321000	0.23259	0.459000	0.35465	GTT		0.677	H6PD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004928.2	NM_004285		G	9324408	T	G	9324408	3	3	716	1	0	0	0	0	1	0	0	0	6938	1725	60	5	1870	5	H6PD	1	9324408	Missense_Mutation	SNP	T	TCGA-KM-8438-01A-11D-2310-10		9324408	239926213	1	40093											
ZNF593	51042	mdanderson.org	37	1	26496651	26496651	+	Silent	SNP	T	T	C	rs7087	byFrequency	TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr1:26496651T>C	ENST00000374266.5	+	1	290	c.177T>C	c.(175-177)ggT>ggC	p.G59G	RP11-96L14.7_ENST00000448923.1_RNA|RP11-96L14.7_ENST00000433939.1_RNA|RP11-96L14.7_ENST00000414762.1_RNA|ZNF593_ENST00000270812.5_Silent_p.G59G|RP11-96L14.7_ENST00000444682.1_RNA|RP11-96L14.7_ENST00000407889.2_RNA	NM_015871.4	NP_056955.2	O00488	ZN593_HUMAN	zinc finger protein 593	59					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			large_intestine(4)|prostate(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		CAGGGGGCGGTCTGCACCGCT	0.706											OREG0013262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	2678	0.534744	0.6301	0.5504	5008	,	,		13465	0.6429		0.2992	False		,,,				2504	0.5256															0								C		2355,1869		730,895,487	6	8	7		177	3.7	1	1	dbSNP_52	7	2256,6012		382,1492,2260	no	coding-synonymous	ZNF593	NM_015871.4		1112,2387,2747	CC,CT,TT		27.2859,44.2472,36.9116		59/135	26496651	4611,7881	2112	4134	6246	SO:0001819	synonymous_variant	51042			D45213	CCDS275.2	1p35.3	2012-10-05			ENSG00000142684	ENSG00000142684			30943	protein-coding gene	gene with protein product						9115366	Standard	NM_015871		Approved	ZT86	uc001bll.4	O00488	OTTHUMG00000007538	ENST00000374266.5:c.177T>C	1.37:g.26496651T>C		787	B2R4S0|Q5T2H7	Silent	SNP	ENST00000374266.5	37	CCDS275.2																																																																																				0.706	ZNF593-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019842.2	NM_015871		C	26496651	T	C	26496651	2	2	716	1	0	0	0	0	0	0	0	1	18028	1654	58	3		3	ZNF593	1	26496651	Silent	SNP	T	TCGA-KM-8438-01A-11D-2310-10	17172243	26496651	222753970	2	40094											
OLFM3	118427	broad.mit.edu	37	1	102269842	102269842	+	Silent	SNP	C	C	T			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr1:102269842C>T	ENST00000338858.5	-	6	1388	c.1389G>A	c.(1387-1389)ctG>ctA	p.L463L	OLFM3_ENST00000370103.4_Silent_p.L443L|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000536598.1_3'UTR			Q96PB7	NOE3_HUMAN	olfactomedin 3	463	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				eye photoreceptor cell development (GO:0042462)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		TGACATTGAACAGCACCTGGT	0.408																																																0													150	142	145					1																	102269842		2203	4300	6503	SO:0001819	synonymous_variant	118427			AF397392	CCDS30781.1, CCDS72832.1	1p22	2008-05-23			ENSG00000118733	ENSG00000118733			17990	protein-coding gene	gene with protein product	"optimedin"	607567				12019210, 16115881	Standard	NM_001288821		Approved	NOE3	uc001dug.2	Q96PB7	OTTHUMG00000010941	ENST00000338858.5:c.1389G>A	1.37:g.102269842C>T			Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	Silent	SNP	ENST00000338858.5	37																																																																																					0.408	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000030142.1			T	102269842	C	T	102269842	2	4	716	1	0	0	0	0	0	0	0	1	10856	465	17	2		2	OLFM3	1	102269842	Silent	SNP	C	TCGA-KM-8438-01A-11D-2310-10	75773191	102269842	146980779	3	40095											
LAD1	3898	mdanderson.org	37	1	201358386	201358386	+	Silent	SNP	G	G	A	rs150992211	byFrequency	TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr1:201358386G>A	ENST00000391967.2	-	2	385	c.84C>T	c.(82-84)cgC>cgT	p.R28R	LAD1_ENST00000367313.3_Silent_p.R42R	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	28	Poly-Arg.					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						GCCTGCGCTCGCGCTCCTGTT	0.672													G|||	5	0.000998403	0.0	0.0	5008	,	,		18002	0.0		0.005	False		,,,				2504	0.0															0								G		0,4406		0,0,2203	46	44	45		84	-10.3	0	1	dbSNP_134	45	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous	LAD1	NM_005558.3		0,5,6498	AA,AG,GG		0.0581,0.0,0.0384		28/518	201358386	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	3898			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.84C>T	1.37:g.201358386G>A			O95614|Q96GD8	Silent	SNP	ENST00000391967.2	37	CCDS1410.1																																																																																				0.672	LAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086946.1	NM_005558		A	201358386	G	A	201358386	2	1	716	1	0	0	0	0	0	0	0	1	8601	1074	38	1		1	LAD1	1	201358386	Silent	SNP	G	TCGA-KM-8438-01A-11D-2310-10	99088544	201358386	47892235	4	40096											
CR1L	1379	broad.mit.edu	37	1	207896964	207896964	+	Splice_Site	SNP	T	T	C			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr1:207896964T>C	ENST00000508064.2	+	12	1704	c.1644T>C	c.(1642-1644)ggT>ggC	p.G548G		NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	548						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						TCCTTTTAGGTTCACATGATG	0.353																																																0													216	187	196					1																	207896964		1859	4113	5972	SO:0001630	splice_region_variant	1379			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.1643-1T>C	1.37:g.207896964T>C			Q32MC9|Q8NEU7	Silent	SNP	ENST00000508064.2	37	CCDS44310.1																																																																																				0.353	CR1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390247.1	XM_114735	Silent	C	207896964	T	C	207896964	5	2	716	1	0	0	0	0	0	0	1	0	3843	1739	60	3	1690	3	CR1L	1	207896964	Splice_Site	SNP	T	TCGA-KM-8438-01A-11D-2310-10	6538578	207896964	41353657	5	40097											
OR2T12	127064	mdanderson.org	37	1	248458419	248458419	+	Silent	SNP	G	G	C	rs142654576		TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr1:248458419G>C	ENST00000317996.1	-	1	461	c.462C>G	c.(460-462)ggC>ggG	p.G154G		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	154						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)			CCTGCAGGAGGCCGTCAGCTG	0.602																																																0													87	93	91					1																	248458419		2162	4286	6448	SO:0001819	synonymous_variant	127064			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.462C>G	1.37:g.248458419G>C				Silent	SNP	ENST00000317996.1	37	CCDS31110.1																																																																																				0.602	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1	NM_001004692		C	248458419	G	C	248458419	2	2	716	1	0	0	0	0	0	0	0	1	11021	1190	42	4		4	OR2T12	1	248458419	Silent	SNP	G	TCGA-KM-8438-01A-11D-2310-10	40561455	248458419	792202	6	40098											
OR2T2	401992	bcgsc.ca	37	1	248616706	248616712	+	Frame_Shift_Del	DEL	TGCTGCG	TGCTGCG	-	rs199823862		TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	TGCTGCG	TGCTGCG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr1:248616706_248616712delTGCTGCG	ENST00000342927.3	+	1	630_636	c.608_614delTGCTGCG	c.(607-615)ttgctgcggfs	p.LLR203fs		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	203						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(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	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)			ATGTATGCCTGCTGCGTGCTGATGCTG	0.527																																																0																																										SO:0001589	frameshift_variant	401992			BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"GPCR / Class A : Olfactory receptors"	14725	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily T, member 2 pseudogene"	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	ENST00000342927.3:c.608_614delTGCTGCG	1.37:g.248616706_248616712delTGCTGCG	ENSP00000343062:p.Leu203fs		B2RNM1|B9EH01	Frame_Shift_Del	DEL	ENST00000342927.3	37	CCDS31116.1																																																																																				0.527	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097421.1	NM_001004136		-	248616712	TGCTGCG	-	248616706	7	5	716	1	0	1	0	1	0	0	0	0	11022	1319	46	0	610	0	OR2T2	1	248616706	Frame_Shift_Del	DEL	TGCTGCG	TCGA-KM-8438-01A-11D-2310-10	158287	248616706	633915	7	40099											
NRXN1	9378	ucsc.edu;bcgsc.ca	37	2	51255194	51255194	+	Missense_Mutation	SNP	T	T	C			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr2:51255194T>C	ENST00000406316.2	-	2	1694	c.218A>G	c.(217-219)gAg>gGg	p.E73G	NRXN1_ENST00000405472.3_Missense_Mutation_p.E73G|NRXN1_ENST00000406859.3_Missense_Mutation_p.E73G|NRXN1_ENST00000405581.1_Missense_Mutation_p.E73G|NRXN1_ENST00000404971.1_Missense_Mutation_p.E73G|NRXN1_ENST00000402717.3_Missense_Mutation_p.E73G|NRXN1_ENST00000401669.2_Missense_Mutation_p.E73G	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	73	Laminin G-like 1. {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)			GCAGAAGCCCTCGTCGTCGAA	0.657																																																0													15	20	18					2																	51255194		2008	4176	6184	SO:0001583	missense	9378			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.218A>G	2.37:g.51255194T>C	ENSP00000384311:p.Glu73Gly		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	T	5.027	0.190678	0.09547	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859;ENST00000405581	T;T;T;T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17;-1.17;-1.17;-1.17	4.97	4.97	0.65823	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.26654	U	0.023183	T	0.61961	0.2389	N	0.21282	0.65	0.37779	D	0.926933	B;B;B	0.13145	0.0;0.007;0.001	B;B;B	0.12837	0.003;0.008;0.007	T	0.58763	-0.7579	10	0.02654	T	1	.	14.6578	0.68847	0.0:0.0:0.0:1.0	.	73;73;73	Q9ULB1-3;F8WB18;Q9ULB1	.;.;NRX1A_HUMAN	G	73	ENSP00000385142:E73G;ENSP00000384311:E73G;ENSP00000434015:E73G;ENSP00000385017:E73G;ENSP00000385434:E73G;ENSP00000385681:E73G;ENSP00000385310:E73G	ENSP00000385017:E73G	E	-	2	0	NRXN1	51108698	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.036000	0.64164	1.860000	0.53959	0.460000	0.39030	GAG		0.657	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			C	51255194	T	C	51255194	3	2	716	1	0	0	0	0	1	0	0	0	10667	1551	54	3	4780	3	NRXN1	2	51255194	Missense_Mutation	SNP	T	TCGA-KM-8438-01A-11D-2310-10		51255194	191944179	8	40100											
C2orf86	51057	broad.mit.edu	37	2	63401909	63401909	+	Silent	SNP	A	A	G			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr2:63401909A>G	ENST00000272321.7	-	15	2501	c.1974T>C	c.(1972-1974)tcT>tcC	p.S658S	WDPCP_ENST00000398544.3_Silent_p.S499S|WDPCP_ENST00000409120.1_Silent_p.S466S|WDPCP_ENST00000409199.1_Silent_p.S466S	NM_015910.5	NP_056994.3	O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	658					auditory receptor cell morphogenesis (GO:0002093)|camera-type eye development (GO:0043010)|cardiovascular system development (GO:0072358)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|digestive system development (GO:0055123)|embryonic digit morphogenesis (GO:0042733)|establishment of protein localization (GO:0045184)|glomerular visceral epithelial cell migration (GO:0090521)|kidney development (GO:0001822)|palate development (GO:0060021)|regulation of embryonic cell shape (GO:0016476)|regulation of establishment of cell polarity (GO:2000114)|regulation of fibroblast migration (GO:0010762)|regulation of focal adhesion assembly (GO:0051893)|regulation of protein localization (GO:0032880)|regulation of ruffle assembly (GO:1900027)|respiratory system development (GO:0060541)|septin cytoskeleton organization (GO:0032185)|smoothened signaling pathway (GO:0007224)	axonemal basal plate (GO:0097541)|axoneme (GO:0005930)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						GAGGTGCTAAAGACAGGCCAA	0.408																																																0													159	146	150					2																	63401909		1863	4095	5958	SO:0001819	synonymous_variant	51057				CCDS42688.1, CCDS46301.1	2p15	2014-04-24	2011-02-01	2011-02-01	ENSG00000143951	ENSG00000143951			28027	protein-coding gene	gene with protein product		613580	"chromosome 2 open reading frame 86"	C2orf86		15654087, 20671153	Standard	NM_015910		Approved	hFrtz, fritz, BBS15	uc002sch.3	O95876	OTTHUMG00000152566	ENST00000272321.7:c.1974T>C	2.37:g.63401909A>G			Q53RW4|Q7Z2Z3	Silent	SNP	ENST00000272321.7	37	CCDS42688.1																																																																																				0.408	WDPCP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326820.1	NM_015910		G	63401909	A	G	63401909	2	3	716	1	0	0	0	0	0	0	0	1	2203	59	3	3		3	C2orf86	2	63401909	Silent	SNP	A	TCGA-KM-8438-01A-11D-2310-10	12146715	63401909	179797464	9	40101											
CTNNA2	1496	broad.mit.edu	37	2	80816430	80816430	+	Splice_Site	SNP	C	C	A			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr2:80816430C>A	ENST00000402739.4	+	14	2014	c.2009C>A	c.(2008-2010)gCc>gAc	p.A670D	AC008067.2_ENST00000595478.1_RNA|AC008067.2_ENST00000596887.1_RNA|CTNNA2_ENST00000541047.1_Splice_Site_p.A670D|CTNNA2_ENST00000343114.3_Splice_Site_p.A349D|CTNNA2_ENST00000466387.1_Splice_Site_p.A670D|AC008067.2_ENST00000609950.1_RNA|CTNNA2_ENST00000361291.4_Splice_Site_p.A704D|CTNNA2_ENST00000540488.1_Splice_Site_p.A670D|AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000496558.1_Splice_Site_p.A670D	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	670					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						CCCACGCAGGCCATCATGGCG	0.517																																																0													57	62	60					2																	80816430		2171	4282	6453	SO:0001630	splice_region_variant	1496				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.2008-1C>A	2.37:g.80816430C>A			B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37		.	.	.	.	.	.	.	.	.	.	C	13.82	2.351090	0.41599	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114	T;T;T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.21;1.21;1.21	5.76	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.28830	0.0715	L	0.31752	0.955	0.80722	D	1	B;B;B;B	0.24186	0.003;0.099;0.081;0.081	B;B;B;B	0.27796	0.007;0.058;0.056;0.083	T	0.04693	-1.0933	9	.	.	.	.	14.9476	0.71044	0.0:0.9314:0.0:0.0685	.	302;670;670;670	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	D	670;670;704;670;670;670;349	ENSP00000418191:A670D;ENSP00000419295:A670D;ENSP00000355398:A704D;ENSP00000384638:A670D;ENSP00000444675:A670D;ENSP00000441705:A670D;ENSP00000341500:A349D	.	A	+	2	0	CTNNA2	80669941	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.915000	0.69973	1.443000	0.47586	0.655000	0.94253	GCC		0.517	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389	Missense_Mutation	A	80816430	C	A	80816430	5	1	716	1	0	0	0	0	0	0	1	0	4015	753	26	4	1855	4	CTNNA2	2	80816430	Splice_Site	SNP	C	TCGA-KM-8438-01A-11D-2310-10	17414521	80816430	162382943	10	40102											
TTN	7273	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	2	179641009	179641009	+	Missense_Mutation	SNP	C	C	T	rs140914855		TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr2:179641009C>T	ENST00000591111.1	-	28	5806	c.5582G>A	c.(5581-5583)cGc>cAc	p.R1861H	TTN_ENST00000360870.5_Missense_Mutation_p.R1861H|RP11-88L24.4_ENST00000582038.2_RNA|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R1861H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R1861H|TTN_ENST00000342175.6_Missense_Mutation_p.R1815H|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R1815H|TTN_ENST00000460472.2_Missense_Mutation_p.R1815H			Q8WZ42	TITIN_HUMAN	titin	12698	Ig-like 9.				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)			TACCCTGCAGCGGAACCTTGC	0.478																																																0								C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	210	199	203		5444,5582,5582,5444,5444	5.2	1	2	dbSNP_134	203	1,8599	2.2+/-6.3	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	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	1815/26927,1861/33424,1861/5605,1815/27052,1815/27119	179641009	1,13005	2203	4300	6503	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.5582G>A	2.37:g.179641009C>T	ENSP00000465570:p.Arg1861His		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	13.46	2.243341	0.39697	0.0	1.16E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28	5.16	5.16	0.70880	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.75598	0.3871	L	0.35414	1.06	0.44061	D	0.996808	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	0.78705	-0.2100	9	0.87932	D	0	.	18.6477	0.91416	0.0:1.0:0.0:0.0	.	1815;1815;1815;1861;1861	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	H	1861;1815;1815;1815;1815;1861	ENSP00000343764:R1861H;ENSP00000434586:R1815H;ENSP00000340554:R1815H;ENSP00000352154:R1815H;ENSP00000354117:R1861H	ENSP00000340554:R1815H	R	-	2	0	TTN	179349254	1.000000	0.71417	0.998000	0.56505	0.914000	0.54420	7.792000	0.85828	2.417000	0.82017	0.651000	0.88453	CGC		0.478	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179641009	C	T	179641009	3	4	716	1	0	0	0	0	1	0	0	0	16740	768	27	1	105746	1	TTN	2	179641009	Missense_Mutation	SNP	C	TCGA-KM-8438-01A-11D-2310-10	98824579	179641009	63558364	11	40103											
OSGEPL1	64172	ucsc.edu	37	2	190618648	190618648	+	Silent	SNP	T	T	C			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr2:190618648T>C	ENST00000264151.5	-	5	1059	c.957A>G	c.(955-957)gcA>gcG	p.A319A	OSGEPL1_ENST00000522700.1_Silent_p.A319A|Y_RNA_ENST00000411317.1_RNA|OSGEPL1_ENST00000519810.1_Silent_p.A319A	NM_022353.2	NP_071748.2			O-sialoglycoprotein endopeptidase-like 1											large_intestine(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0293)|all cancers(119;0.0831)			TTACCAGTACTGCATTATTTT	0.368																																																0													49	48	49					2																	190618648		1868	4099	5967	SO:0001819	synonymous_variant	64172			AJ295148	CCDS46472.1	2q32	2011-08-12			ENSG00000128694	ENSG00000128694			23075	protein-coding gene	gene with protein product						19578062	Standard	NM_022353		Approved	Qri7	uc002uqz.1	Q9H4B0	OTTHUMG00000164096	ENST00000264151.5:c.957A>G	2.37:g.190618648T>C				Silent	SNP	ENST00000264151.5	37	CCDS46472.1																																																																																				0.368	OSGEPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377257.1	NM_022353		C	190618648	T	C	190618648	2	2	716	1	0	0	0	0	0	0	0	1	11290	1567	55	3		3	OSGEPL1	2	190618648	Silent	SNP	T	TCGA-KM-8438-01A-11D-2310-10	10977639	190618648	52580725	12	40104											
EEF1B2	1933	broad.mit.edu	37	2	207025365	207025365	+	Missense_Mutation	SNP	C	C	T			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr2:207025365C>T	ENST00000392222.2	+	2	509	c.134C>T	c.(133-135)cCg>cTg	p.P45L	SNORA41_ENST00000384675.1_RNA|NDUFS1_ENST00000455934.2_5'Flank|EEF1B2_ENST00000236957.5_Missense_Mutation_p.P45L|NDUFS1_ENST00000449699.1_5'Flank|NDUFS1_ENST00000457011.1_5'Flank|NDUFS1_ENST00000432169.1_5'Flank|NDUFS1_ENST00000440274.1_5'Flank|NDUFS1_ENST00000423725.1_5'Flank|NDUFS1_ENST00000233190.6_5'Flank|SNORD51_ENST00000384320.2_RNA|EEF1B2_ENST00000392221.1_Missense_Mutation_p.P45L	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	45	GST C-terminal.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)	translation elongation factor activity (GO:0003746)			breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						TCCAGCCCACCGCCTGCCGAC	0.453																																																0													109	100	103					2																	207025365		2203	4300	6503	SO:0001583	missense	1933			X60489	CCDS2367.1	2q33.3	2011-04-28			ENSG00000114942	ENSG00000114942			3208	protein-coding gene	gene with protein product		600655				8250921	Standard	NM_001959		Approved		uc002vbf.1	P24534	OTTHUMG00000132891	ENST00000392222.2:c.134C>T	2.37:g.207025365C>T	ENSP00000376056:p.Pro45Leu		A8K795|Q6IBH9	Missense_Mutation	SNP	ENST00000392222.2	37	CCDS2367.1	.	.	.	.	.	.	.	.	.	.	C	16.38	3.106668	0.56291	.	.	ENSG00000114942	ENST00000236957;ENST00000392221;ENST00000392222;ENST00000445505	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.47	5.47	0.80525	Glutathione S-transferase, C-terminal-like (2);	0.000000	0.85682	D	0.000000	T	0.56558	0.1993	M	0.88979	2.995	0.80722	D	1	P	0.43431	0.807	B	0.35655	0.207	T	0.69837	-0.5037	10	0.72032	D	0.01	-5.866	19.3282	0.94273	0.0:1.0:0.0:0.0	.	45	P24534	EF1B_HUMAN	L	45	ENSP00000236957:P45L;ENSP00000376055:P45L;ENSP00000376056:P45L;ENSP00000407730:P45L	ENSP00000236957:P45L	P	+	2	0	EEF1B2	206733610	1.000000	0.71417	0.649000	0.29536	0.233000	0.25261	5.440000	0.66563	2.584000	0.87258	0.561000	0.74099	CCG		0.453	EEF1B2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336436.1	NM_001037663		T	207025365	C	T	207025365	3	4	716	1	0	0	0	0	1	0	0	0	4927	652	23	1	140	1	EEF1B2	2	207025365	Missense_Mutation	SNP	C	TCGA-KM-8438-01A-11D-2310-10	16406717	207025365	36174008	13	40105											
ALPP	250	broad.mit.edu;mdanderson.org;bcgsc.ca	37	2	233244614	233244614	+	Missense_Mutation	SNP	G	G	A	rs138033708		TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr2:233244614G>A	ENST00000392027.2	+	5	894	c.625G>A	c.(625-627)Gct>Act	p.A209T	AC068134.8_ENST00000439072.1_RNA|AC068134.8_ENST00000441266.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	209					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)		CCAGGACATCGCTACGCAGCT	0.682													G|||	1	0.000199681	0.0	0.0	5008	,	,		18710	0.0		0.0	False		,,,				2504	0.001															0													69	70	70					2																	233244614		2203	4299	6502	SO:0001583	missense	250			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.625G>A	2.37:g.233244614G>A	ENSP00000375881:p.Ala209Thr		P05188|P06861|Q53S78|Q96DB7	Missense_Mutation	SNP	ENST00000392027.2	37	CCDS2490.1	.	.	.	.	.	.	.	.	.	.	.	14.15	2.449547	0.43531	.	.	ENSG00000163283	ENST00000392027	D	0.96940	-4.18	2.31	1.36	0.22044	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.97729	0.9255	M	0.88842	2.985	0.53005	D	0.999963	D	0.89917	1.0	D	0.70016	0.967	D	0.96819	0.9602	10	0.66056	D	0.02	.	9.4929	0.38971	0.0:0.0:0.6243:0.3757	.	209	P05187	PPB1_HUMAN	T	209	ENSP00000375881:A209T	ENSP00000375881:A209T	A	+	1	0	ALPP	232952858	0.743000	0.28239	0.326000	0.25389	0.024000	0.10985	0.952000	0.29149	0.266000	0.21894	0.298000	0.19748	GCT		0.682	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257032.3	NM_001632		A	233244614	G	A	233244614	3	1	716	1	0	0	0	0	1	0	0	0	548	1087	38	1	643	1	ALPP	2	233244614	Missense_Mutation	SNP	G	TCGA-KM-8438-01A-11D-2310-10	26219249	233244614	9954759	14	40106											
LRRN1	57633	bcgsc.ca	37	3	3887089	3887089	+	Missense_Mutation	SNP	C	C	A			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr3:3887089C>A	ENST00000319331.3	+	2	1525	c.764C>A	c.(763-765)cCt>cAt	p.P255H	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	255						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)		GTTAAAGTCCCTCAACTTGCC	0.403																																																0													79	87	84					3																	3887089		2202	4300	6502	SO:0001583	missense	57633			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.764C>A	3.37:g.3887089C>A	ENSP00000314901:p.Pro255His		Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Missense_Mutation	SNP	ENST00000319331.3	37	CCDS33685.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.296416	0.81025	.	.	ENSG00000175928	ENST00000319331	T	0.34472	1.36	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.63873	0.2548	M	0.79011	2.435	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65598	-0.6129	10	0.54805	T	0.06	.	19.313	0.94199	0.0:1.0:0.0:0.0	.	255	Q6UXK5	LRRN1_HUMAN	H	255	ENSP00000314901:P255H	ENSP00000314901:P255H	P	+	2	0	LRRN1	3862089	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.755000	0.85180	2.557000	0.86248	0.585000	0.79938	CCT		0.403	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337704.2	NM_020873		A	3887089	C	A	3887089	3	1	716	1	0	0	0	0	1	0	0	0	9036	681	24	4	766	4	LRRN1	3	3887089	Missense_Mutation	SNP	C	TCGA-KM-8438-01A-11D-2310-10		3887089	194135341	15	40107											
TRANK1	9881	bcgsc.ca	37	3	36898643	36898643	+	Missense_Mutation	SNP	T	T	C			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr3:36898643T>C	ENST00000429976.2	-	12	2685	c.2438A>G	c.(2437-2439)aAg>aGg	p.K813R	TRANK1_ENST00000301807.6_Missense_Mutation_p.K263R|TRANK1_ENST00000428977.2_Missense_Mutation_p.K263R	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	813							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						GATGATTTTCTTCTTGATGAC	0.507																																																0													171	168	169					3																	36898643		2012	4168	6180	SO:0001583	missense	9881			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.2438A>G	3.37:g.36898643T>C	ENSP00000416168:p.Lys813Arg		Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	T	10.38	1.333210	0.24167	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.32988	1.43;1.83;1.43	5.64	3.29	0.37713	.	0.193295	0.37304	N	0.002150	T	0.15522	0.0374	N	0.14661	0.345	0.28734	N	0.902325	B	0.16166	0.016	B	0.10450	0.005	T	0.10965	-1.0607	10	0.30078	T	0.28	.	6.672	0.23074	0.0:0.1436:0.1404:0.716	.	813	O15050	TRNK1_HUMAN	R	263;813;263	ENSP00000416826:K263R;ENSP00000416168:K813R;ENSP00000301807:K263R	ENSP00000301807:K263R	K	-	2	0	TRANK1	36873647	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	2.181000	0.42547	1.093000	0.41377	0.533000	0.62120	AAG		0.507	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		C	36898643	T	C	36898643	3	2	716	1	0	0	0	0	1	0	0	0	16459	1609	56	3	6387	3	TRANK1	3	36898643	Missense_Mutation	SNP	T	TCGA-KM-8438-01A-11D-2310-10	33011554	36898643	161123787	16	40108											
ITGA9	3680	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	3	37785427	37785427	+	Missense_Mutation	SNP	C	C	A			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr3:37785427C>A	ENST00000264741.5	+	22	2591	c.2335C>A	c.(2335-2337)Cca>Aca	p.P779T	AC093415.2_ENST00000449586.1_RNA	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	779					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|neutrophil chemotaxis (GO:0030593)|wound healing (GO:0042060)	basal plasma membrane (GO:0009925)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		AATCATGTCTCCAACCTCCTT	0.483																																																0													159	128	138					3																	37785427		2203	4300	6503	SO:0001583	missense	3680			L24158	CCDS2669.1	3p21.3	2010-03-23			ENSG00000144668	ENSG00000144668		"Integrins"	6145	protein-coding gene	gene with protein product	"integrin, alpha 4-like"	603963				8245132, 8290272	Standard	NM_002207		Approved	RLC, ITGA4L, ALPHA-RLC	uc003chd.3	Q13797	OTTHUMG00000130815	ENST00000264741.5:c.2335C>A	3.37:g.37785427C>A	ENSP00000264741:p.Pro779Thr		Q14638	Missense_Mutation	SNP	ENST00000264741.5	37	CCDS2669.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.144022	0.77888	.	.	ENSG00000144668	ENST00000264741	T	0.74632	-0.86	5.41	5.41	0.78517	Integrin alpha-2 (1);	0.051257	0.85682	D	0.000000	D	0.86715	0.5999	M	0.77103	2.36	0.58432	D	0.999997	D	0.69078	0.997	D	0.77557	0.99	D	0.87897	0.2688	10	0.87932	D	0	.	18.3243	0.90248	0.0:1.0:0.0:0.0	.	779	Q13797	ITA9_HUMAN	T	779	ENSP00000264741:P779T	ENSP00000264741:P779T	P	+	1	0	ITGA9	37760431	1.000000	0.71417	0.999000	0.59377	0.910000	0.53928	5.900000	0.69853	2.686000	0.91538	0.655000	0.94253	CCA		0.483	ITGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253361.1	NM_002207		A	37785427	C	A	37785427	3	1	716	1	0	0	0	0	1	0	0	0	7885	855	30	4	2421	4	ITGA9	3	37785427	Missense_Mutation	SNP	C	TCGA-KM-8438-01A-11D-2310-10	886784	37785427	160237003	17	40109											
CCDC13	152206	hgsc.bcm.edu	37	3	42777231	42777231	+	Silent	SNP	G	G	A			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr3:42777231G>A	ENST00000310232.6	-	10	1422	c.1339C>T	c.(1339-1341)Ctg>Ttg	p.L447L	CCDC13-AS1_ENST00000446950.1_RNA|CCDC13-AS1_ENST00000418161.1_RNA	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	447										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						TCCATCTCCAGCTGTCGCACT	0.602																																																0													128	115	119					3																	42777231		2203	4300	6503	SO:0001819	synonymous_variant	152206			AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607			26358	protein-coding gene	gene with protein product						12477932	Standard	NM_144719		Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.1339C>T	3.37:g.42777231G>A				Silent	SNP	ENST00000310232.6	37	CCDS2705.1																																																																																				0.602	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256652.1	NM_144719		A	42777231	G	A	42777231	2	1	716	1	0	0	0	0	0	0	0	1	2767	962	34	2		2	CCDC13	3	42777231	Silent	SNP	G	TCGA-KM-8438-01A-11D-2310-10	4991804	42777231	155245199	18	40110											
SETD2	29072	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	3	47084094	47084094	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr3:47084094G>A	ENST00000409792.3	-	17	7237	c.7195C>T	c.(7195-7197)Cga>Tga	p.R2399*		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2399	WW. {ECO:0000255|PROSITE- ProRule:PRU00224}.				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)	p.R1896*(2)|p.R2399*(2)		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)		TCTGGATCTCGAGCTGTCTTC	0.453			"N, F, S, Mis"		clear cell renal carcinoma																																		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	4	Substitution - Nonsense(4)	large_intestine(2)|breast(2)											113	112	112					3																	47084094		2203	4300	6503	SO:0001587	stop_gained	29072			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.7195C>T	3.37:g.47084094G>A	ENSP00000386759:p.Arg2399*		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Nonsense_Mutation	SNP	ENST00000409792.3	37	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	G	48	14.190842	0.99783	.	.	ENSG00000181555	ENST00000451092;ENST00000409792	.	.	.	5.51	3.7	0.42460	.	0.000000	0.43110	D	0.000617	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.4304	0.44405	0.0695:0.0:0.796:0.1346	.	.	.	.	X	2399	.	ENSP00000386759:R2399X	R	-	1	2	SETD2	47059098	1.000000	0.71417	0.995000	0.50966	0.974000	0.67602	3.171000	0.50824	0.685000	0.31468	-0.182000	0.12963	CGA		0.453	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		A	47084094	G	A	47084094	4	1	716	1	0	0	0	0	0	1	0	0	14137	1066	37	1	519	1	SETD2	3	47084094	Nonsense_Mutation	SNP	G	TCGA-KM-8438-01A-11D-2310-10	4306863	47084094	150938336	19	40111											
ATP11B	23200	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	3	182631695	182631695	+	Missense_Mutation	SNP	G	G	T			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr3:182631695G>T	ENST00000323116.5	+	29	3625	c.3365G>T	c.(3364-3366)tGt>tTt	p.C1122F		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	1122					aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			TCCATGTGCTGTTTCCCGGAA	0.453																																																0													251	244	247					3																	182631695		2203	4300	6503	SO:0001583	missense	23200			AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063		"ATPases / P-type"	13553	protein-coding gene	gene with protein product		605869	"ATPase, Class VI, type 11B"			10231032, 11015572	Standard	NM_014616		Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.3365G>T	3.37:g.182631695G>T	ENSP00000321195:p.Cys1122Phe		Q96FN1|Q9UKK7	Missense_Mutation	SNP	ENST00000323116.5	37	CCDS33896.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.206191	0.79127	.	.	ENSG00000058063	ENST00000323116;ENST00000484691	T	0.38887	1.11	5.24	5.24	0.73138	.	0.431079	0.26567	N	0.023660	T	0.51432	0.1674	M	0.67953	2.075	0.80722	D	1	P;P	0.50710	0.938;0.664	P;B	0.47470	0.548;0.216	T	0.50398	-0.8833	10	0.35671	T	0.21	.	19.1816	0.93625	0.0:0.0:1.0:0.0	.	696;1122	B3KSJ2;Q9Y2G3	.;AT11B_HUMAN	F	1122;100	ENSP00000321195:C1122F	ENSP00000321195:C1122F	C	+	2	0	ATP11B	184114389	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.374000	0.90133	2.601000	0.87937	0.655000	0.94253	TGT		0.453	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350598.1	NM_014616		T	182631695	G	T	182631695	3	4	716	1	0	0	0	0	1	0	0	0	1120	1377	48	4	3479	4	ATP11B	3	182631695	Missense_Mutation	SNP	G	TCGA-KM-8438-01A-11D-2310-10	135547601	182631695	15390735	20	40112											
DGKQ	1609	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	4	956357	956357	+	Missense_Mutation	SNP	C	C	T			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr4:956357C>T	ENST00000273814.3	-	18	2153	c.2080G>A	c.(2080-2082)Ggc>Agc	p.G694S	DGKQ_ENST00000502309.1_5'Flank	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	694	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				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)			GGGTCCTCGCCGCTGTAGCCC	0.662																																					Esophageal Squamous(17;537 645 4447 26373)											0													47	46	46					4																	956357		2200	4299	6499	SO:0001583	missense	1609			L38707	CCDS3342.1	4p16.3	2008-08-29	2002-08-29		ENSG00000145214	ENSG00000145214			2856	protein-coding gene	gene with protein product		601207	"diacylglycerol kinase, theta (110kD)"	DAGK4		8617502, 9099683	Standard	NM_001347		Approved	DAGK, DAGK7	uc003gbw.4	P52824	OTTHUMG00000088629	ENST00000273814.3:c.2080G>A	4.37:g.956357C>T	ENSP00000273814:p.Gly694Ser		Q6P3W4	Missense_Mutation	SNP	ENST00000273814.3	37	CCDS3342.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.333433	0.81801	.	.	ENSG00000145214	ENST00000273814	T	0.21361	2.01	4.9	4.9	0.64082	Diacylglycerol kinase, catalytic domain (3);	0.100622	0.64402	D	0.000002	T	0.34687	0.0906	L	0.38692	1.165	0.58432	D	0.999996	D;D	0.76494	0.998;0.999	P;D	0.63703	0.806;0.917	T	0.05241	-1.0897	10	0.56958	D	0.05	.	15.9132	0.79488	0.0:1.0:0.0:0.0	.	694;694	E9KL49;P52824	.;DGKQ_HUMAN	S	694	ENSP00000273814:G694S	ENSP00000273814:G694S	G	-	1	0	DGKQ	946357	0.798000	0.28890	0.638000	0.29380	0.430000	0.31655	1.737000	0.38197	2.395000	0.81488	0.655000	0.94253	GGC		0.662	DGKQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000200888.1			T	956357	C	T	956357	3	4	716	1	0	0	0	0	1	0	0	0	4475	652	23	1	772	1	DGKQ	4	956357	Missense_Mutation	SNP	C	TCGA-KM-8438-01A-11D-2310-10		956357	190197919	21	40113											
ARSK	153642	broad.mit.edu;hgsc.bcm.edu	37	5	94936601	94936601	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr5:94936601delC	ENST00000380009.4	+	7	1352	c.1147delC	c.(1147-1149)ccgfs	p.P383fs		NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	383					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)		CTCTTTGTTGCCGTTATCATC	0.358																																																0													140	137	138					5																	94936601		2203	4300	6503	SO:0001589	frameshift_variant	153642				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.1147delC	5.37:g.94936601delC	ENSP00000369346:p.Pro383fs		A2BDE3|B4E1I4|Q3ZCW3|Q8N3Q8	Frame_Shift_Del	DEL	ENST00000380009.4	37	CCDS4073.1																																																																																				0.358	ARSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241652.2	NM_198150		-	94936601	C	-	94936601	7	5	716	1	0	1	0	1	0	0	0	0	996	739	26	0	1173	0	ARSK	5	94936601	Frame_Shift_Del	DEL	C	TCGA-KM-8438-01A-11D-2310-10		94936601	85978659	22	40114	344	2									
ARSK	153642	bcgsc.ca	37	5	94936602	94936602	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr5:94936602delC	ENST00000380009.4	+	7	1353	c.1148delC	c.(1147-1149)ccgfs	p.P383fs		NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	383					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)		TCTTTGTTGCCGTTATCATCA	0.363																																																0													141	138	139					5																	94936602		2203	4300	6503	SO:0001589	frameshift_variant	153642				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.1148delC	5.37:g.94936602delC	ENSP00000369346:p.Pro383fs		A2BDE3|B4E1I4|Q3ZCW3|Q8N3Q8	Frame_Shift_Del	DEL	ENST00000380009.4	37	CCDS4073.1																																																																																				0.363	ARSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241652.2	NM_198150		-	94936602	C	-	94936602	7	5	716	1	0	1	0	1	0	0	0	0	996	652	23	0	1174	0	ARSK	5	94936602	Frame_Shift_Del	DEL	C	TCGA-KM-8438-01A-11D-2310-10	1	94936602	85978658	23	40115	344	2									
RNF39	80352	ucsc.edu;bcgsc.ca	37	6	30043356	30043356	+	Missense_Mutation	SNP	C	C	T			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr6:30043356C>T	ENST00000244360.6	-	1	308	c.211G>A	c.(211-213)Gcg>Acg	p.A71T	RNF39_ENST00000376751.3_Missense_Mutation_p.A71T	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39	71						cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)										AGCTCGGGCGCATCCATGGAA	0.706																																					NSCLC(8;188 360 1520 20207 31481)											0													13	16	15					6																	30043356		2199	4296	6495	SO:0001583	missense	80352			AF238315	CCDS4673.1, CCDS4674.1	6p21.3	2013-01-09			ENSG00000204618	ENSG00000204618		"RING-type (C3HC4) zinc fingers"	18064	protein-coding gene	gene with protein product		607524				11130983, 11716498	Standard	NM_170769		Approved	HZFw1, LIRF	uc003npe.3	Q9H2S5	OTTHUMG00000031288	ENST00000244360.6:c.211G>A	6.37:g.30043356C>T	ENSP00000244360:p.Ala71Thr		A2BEK3|A6NCD6|B0S858|Q5SPM8|Q5SPM9|Q5SPN0|Q5SRJ9|Q5SRK1|Q5SS29|Q9H2S3|Q9H2S4	Missense_Mutation	SNP	ENST00000244360.6	37	CCDS4673.1	.	.	.	.	.	.	.	.	.	.	c	15.90	2.968922	0.53614	.	.	ENSG00000204618	ENST00000376751;ENST00000244360;ENST00000376746	T;T	0.70516	-0.01;-0.49	3.81	1.81	0.25067	.	.	.	.	.	T	0.32823	0.0842	L	0.31157	0.91	0.23632	N	0.99724	B;P	0.36535	0.421;0.557	B;B	0.33750	0.081;0.169	T	0.05517	-1.0880	9	0.27785	T	0.31	.	6.7546	0.23505	0.0:0.713:0.1793:0.1077	.	71;71	Q9H2S5;Q9H2S5-2	RNF39_HUMAN;.	T	71	ENSP00000365942:A71T;ENSP00000244360:A71T	ENSP00000244360:A71T	A	-	1	0	RNF39	30151335	0.018000	0.18449	0.962000	0.40283	0.892000	0.51952	0.642000	0.24735	0.732000	0.32470	0.436000	0.28706	GCG		0.706	RNF39-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076625.3	NM_170769		T	30043356	C	T	30043356	3	4	716	1	0	0	0	0	1	0	0	0	13497	710	25	2	1067	2	RNF39	6	30043356	Missense_Mutation	SNP	C	TCGA-KM-8438-01A-11D-2310-10		30043356	141071711	24	40116											
HLA-DRB1	3123	mdanderson.org	37	6	32557477	32557477	+	Silent	SNP	G	G	A	rs150644773	byFrequency	TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr6:32557477G>A	ENST00000360004.5	-	1	148	c.43C>T	c.(43-45)Ctg>Ttg	p.L15L		NM_002124.3	NP_002115.2	Q30167	2B1A_HUMAN	major histocompatibility complex, class II, DR beta 1	15					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						GTCACTGTCAGCGCTGTCATG	0.592										Multiple Myeloma(14;0.17)																																						0													87	106	99					6																	32557477		1511	2709	4220	SO:0001819	synonymous_variant	3123			AJ297583	CCDS47409.1	6p21.3	2013-01-11			ENSG00000196126	ENSG00000196126		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4948	protein-coding gene	gene with protein product		142857		HLA-DR1B			Standard	NM_001243965		Approved		uc011eri.2	P01911	OTTHUMG00000031196	ENST00000360004.5:c.43C>T	6.37:g.32557477G>A			P01914|Q9MYF5	Silent	SNP	ENST00000360004.5	37	CCDS47409.1																																																																																				0.592	HLA-DRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076393.3	NM_002124		A	32557477	G	A	32557477	2	1	716	1	0	0	0	0	0	0	0	1	7210	962	34	2		2	HLA-DRB1	6	32557477	Silent	SNP	G	TCGA-KM-8438-01A-11D-2310-10	2514121	32557477	138557590	25	40117											
COL12A1	1303	broad.mit.edu;bcgsc.ca	37	6	75875301	75875301	+	Missense_Mutation	SNP	T	T	C			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr6:75875301T>C	ENST00000322507.8	-	14	3214	c.2905A>G	c.(2905-2907)Acc>Gcc	p.T969A	COL12A1_ENST00000416123.2_Missense_Mutation_p.T969A|COL12A1_ENST00000483888.2_Missense_Mutation_p.T969A|COL12A1_ENST00000345356.6_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	969	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						CTGTATTTGGTCTCTGGCTGC	0.413																																																0													133	129	130					6																	75875301		1890	4114	6004	SO:0001583	missense	1303			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens", "Fibronectin type III domain containing"	2188	protein-coding gene	gene with protein product	"collagen type XII proteoglycan"	120320	"collagen, type XII, alpha 1-like"	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.2905A>G	6.37:g.75875301T>C	ENSP00000325146:p.Thr969Ala		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.370089	0.82573	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	T;T;T	0.61627	0.09;0.09;0.09	5.55	5.55	0.83447	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000003	T	0.74974	0.3787	M	0.87381	2.88	0.54753	D	0.99998	D	0.76494	0.999	D	0.85130	0.997	T	0.80158	-0.1499	10	0.62326	D	0.03	.	15.6872	0.77421	0.0:0.0:0.0:1.0	.	969	Q99715	COCA1_HUMAN	A	969	ENSP00000325146:T969A;ENSP00000412864:T969A;ENSP00000421216:T969A	ENSP00000325146:T969A	T	-	1	0	COL12A1	75932021	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.466000	0.80914	2.100000	0.63781	0.533000	0.62120	ACC		0.413	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		C	75875301	T	C	75875301	3	2	716	1	0	0	0	0	1	0	0	0	3671	1667	58	3	6498	3	COL12A1	6	75875301	Missense_Mutation	SNP	T	TCGA-KM-8438-01A-11D-2310-10	43317824	75875301	95239766	26	40118											
ARPC1B	10095	bcgsc.ca	37	7	98988571	98988571	+	Missense_Mutation	SNP	G	G	T			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr7:98988571G>T	ENST00000451682.1	+	8	865	c.556G>T	c.(556-558)Ggc>Tgc	p.G186C	ARPC1B_ENST00000252725.5_Missense_Mutation_p.G186C|PDAP1_ENST00000496335.1_5'Flank			O15143	ARC1B_HUMAN	actin related protein 2/3 complex, subunit 1B, 41kDa	186					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)			CACCCCGTGGGGCTCCAAGAT	0.597																																																0													49	48	48					7																	98988571		2203	4300	6503	SO:0001583	missense	10095			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.556G>T	7.37:g.98988571G>T	ENSP00000389631:p.Gly186Cys		Q9BU00	Missense_Mutation	SNP	ENST00000451682.1	37	CCDS5661.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.767210	0.90020	.	.	ENSG00000130429	ENST00000252725;ENST00000451682	T;T	0.67171	-0.25;-0.25	5.81	4.93	0.64822	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.85478	0.5706	M	0.93062	3.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.88995	0.3417	10	0.72032	D	0.01	-55.2488	14.663	0.68888	0.0705:0.0:0.9295:0.0	.	186;186	A4D275;O15143	.;ARC1B_HUMAN	C	186	ENSP00000252725:G186C;ENSP00000389631:G186C	ENSP00000252725:G186C	G	+	1	0	ARPC1B	98826507	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.764000	0.98949	1.469000	0.48083	0.561000	0.74099	GGC		0.597	ARPC1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335894.1	NM_005720		T	98988571	G	T	98988571	3	4	716	1	0	0	0	0	1	0	0	0	970	1232	43	4	574	4	ARPC1B	7	98988571	Missense_Mutation	SNP	G	TCGA-KM-8438-01A-11D-2310-10		98988571	60150092	27	40119											
CFTR	1080	broad.mit.edu	37	7	117188705	117188705	+	Missense_Mutation	SNP	A	A	T	rs397508180		TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr7:117188705A>T	ENST00000003084.6	+	10	1352	c.1220A>T	c.(1219-1221)gAa>gTa	p.E407V	CFTR_ENST00000454343.1_Intron	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	407					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)	GGATTTGGGGAATTATTTGAG	0.328									Cystic Fibrosis																																							0			GRCh37	CM993855	CFTR	M							18	18	18					7																	117188705		2198	4290	6488	SO:0001583	missense	1080	Familial Cancer Database	CF	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.1220A>T	7.37:g.117188705A>T	ENSP00000003084:p.Glu407Val		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	ENST00000003084.6	37	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	A	15.26	2.781907	0.49891	.	.	ENSG00000001626	ENST00000003084;ENST00000426809	D;D	0.93189	-3.12;-3.18	4.85	3.7	0.42460	ABC transporter, transmembrane domain, type 1 (1);	0.149774	0.64402	D	0.000018	D	0.92698	0.7679	M	0.81802	2.56	0.80722	D	1	B	0.27882	0.192	B	0.32022	0.139	D	0.90227	0.4276	10	0.56958	D	0.05	-10.5798	10.1866	0.43002	0.9212:0.0:0.0788:0.0	.	407	P13569	CFTR_HUMAN	V	407;377	ENSP00000003084:E407V;ENSP00000389119:E377V	ENSP00000003084:E407V	E	+	2	0	CFTR	116975941	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.730000	0.74780	0.822000	0.34565	0.528000	0.53228	GAA		0.328	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492		T	117188705	A	T	117188705	3	4	716	1	0	0	0	0	1	0	0	0	3296	246	9	5	1258	5	CFTR	7	117188705	Missense_Mutation	SNP	A	TCGA-KM-8438-01A-11D-2310-10	18200134	117188705	41949958	28	40120											
LMOD2	442721	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	7	123302156	123302156	+	Missense_Mutation	SNP	C	C	A			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr7:123302156C>A	ENST00000458573.2	+	2	673	c.516C>A	c.(514-516)aaC>aaA	p.N172K	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	172						cytoskeleton (GO:0005856)											AAATAGAGAACATAAATTTGA	0.393																																																0													39	39	39					7																	123302156		1902	4103	6005	SO:0001583	missense	442721			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.516C>A	7.37:g.123302156C>A	ENSP00000411932:p.Asn172Lys		A4D0W9|A4D0Y2|Q8WVJ8	Missense_Mutation	SNP	ENST00000458573.2	37	CCDS47693.1	.	.	.	.	.	.	.	.	.	.	C	4.545	0.101182	0.08731	.	.	ENSG00000170807	ENST00000458573;ENST00000444702;ENST00000332074	D	0.89050	-2.46	5.22	3.37	0.38596	.	.	.	.	.	D	0.83538	0.5276	M	0.61703	1.905	0.58432	D	0.999996	B	0.27625	0.183	B	0.19666	0.026	T	0.75747	-0.3209	9	0.14252	T	0.57	-15.6113	8.691	0.34267	0.0:0.6316:0.0:0.3684	.	172	Q6P5Q4	LMOD2_HUMAN	K	172;132;143	ENSP00000411932:N172K	ENSP00000405123:N143K	N	+	3	2	LMOD2	123089392	0.097000	0.21791	0.975000	0.42487	0.913000	0.54294	-0.128000	0.10531	1.168000	0.42723	0.591000	0.81541	AAC		0.393	LMOD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348525.1			A	123302156	C	A	123302156	3	1	716	1	0	0	0	0	1	0	0	0	8859	477	17	4	522	4	LMOD2	7	123302156	Missense_Mutation	SNP	C	TCGA-KM-8438-01A-11D-2310-10	6113451	123302156	35836507	29	40121											
GCC1	79571	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	7	127224826	127224826	+	Missense_Mutation	SNP	C	C	A			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr7:127224826C>A	ENST00000321407.2	-	1	835	c.411G>T	c.(409-411)gaG>gaT	p.E137D	GCC1_ENST00000497650.1_Intron	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	137					protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TAACGCCACTCTCGGACCAAC	0.577																																																0													135	124	128					7																	127224826		2203	4300	6503	SO:0001583	missense	79571			AF525417	CCDS5796.1	7q22.3	2004-03-05	2003-10-17		ENSG00000179562	ENSG00000179562			19095	protein-coding gene	gene with protein product		607418	"golgi coiled-coil 1"			10209125	Standard	NM_024523		Approved	FLJ22035, GCC88, GCC1P, MGC20706	uc003vma.3	Q96CN9	OTTHUMG00000023590	ENST00000321407.2:c.411G>T	7.37:g.127224826C>A	ENSP00000318821:p.Glu137Asp		Q9H6N7	Missense_Mutation	SNP	ENST00000321407.2	37	CCDS5796.1	.	.	.	.	.	.	.	.	.	.	C	10.14	1.269087	0.23221	.	.	ENSG00000179562	ENST00000321407	T	0.14022	2.54	5.89	5.01	0.66863	.	0.251271	0.42294	D	0.000738	T	0.15003	0.0362	L	0.39397	1.21	0.50467	D	0.999871	B	0.29936	0.262	B	0.34489	0.184	T	0.02471	-1.1154	10	0.23302	T	0.38	-31.1941	15.946	0.79792	0.0:0.9272:0.0:0.0728	.	137	Q96CN9	GCC1_HUMAN	D	137	ENSP00000318821:E137D	ENSP00000318821:E137D	E	-	3	2	GCC1	127012062	1.000000	0.71417	1.000000	0.80357	0.089000	0.18198	2.048000	0.41278	0.844000	0.35094	-0.797000	0.03246	GAG		0.577	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059911.3	NM_024523		A	127224826	C	A	127224826	3	1	716	1	0	0	0	0	1	0	0	0	6287	912	32	4	1924	4	GCC1	7	127224826	Missense_Mutation	SNP	C	TCGA-KM-8438-01A-11D-2310-10	3922670	127224826	31913837	30	40122											
SLC4A2	6522	broad.mit.edu;hgsc.bcm.edu	37	7	150772848	150772851	+	Frame_Shift_Del	DEL	ACTT	ACTT	-			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	ACTT	ACTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr7:150772848_150772851delACTT	ENST00000485713.1	+	21	4497_4500	c.3457_3460delACTT	c.(3457-3462)acttacfs	p.TY1153fs	SLC4A2_ENST00000392826.2_Frame_Shift_Del_p.TY1144fs|SLC4A2_ENST00000461735.1_Frame_Shift_Del_p.TY1139fs|RP11-148K1.12_ENST00000485974.1_RNA|FASTK_ENST00000489884.1_5'Flank|SLC4A2_ENST00000413384.2_Frame_Shift_Del_p.TY1153fs|SLC4A2_ENST00000310317.5_Frame_Shift_Del_p.TY1071fs	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	1153	Membrane (anion exchange).				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)		CCCAGATGTCACTTACGTCAAGAA	0.588																																																0																																										SO:0001589	frameshift_variant	6522				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.3457_3460delACTT	7.37:g.150772848_150772851delACTT	ENSP00000419412:p.Thr1153fs		B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Frame_Shift_Del	DEL	ENST00000485713.1	37	CCDS5917.1																																																																																				0.588	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1	NM_003040		-	150772851	ACTT	-	150772848	7	5	716	1	0	1	0	1	0	0	0	0	14660	159	6	0	3535	0	SLC4A2	7	150772848	Frame_Shift_Del	DEL	ACTT	TCGA-KM-8438-01A-11D-2310-10	23548022	150772848	8365815	31	40123	345	2									
SLC4A2	6522	bcgsc.ca	37	7	150772849	150772852	+	Frame_Shift_Del	DEL	ACTT	ACTT	-			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	ACTT	ACTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr7:150772849_150772852delACTT	ENST00000485713.1	+	21	4498_4501	c.3458_3461delACTT	c.(3457-3462)aacttcfs	p.NF1153fs	SLC4A2_ENST00000392826.2_Frame_Shift_Del_p.NF1144fs|SLC4A2_ENST00000461735.1_Frame_Shift_Del_p.NF1139fs|RP11-148K1.12_ENST00000485974.1_RNA|FASTK_ENST00000489884.1_5'Flank|SLC4A2_ENST00000413384.2_Frame_Shift_Del_p.NF1153fs|SLC4A2_ENST00000310317.5_Frame_Shift_Del_p.NF1071fs	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	1153	Membrane (anion exchange).				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)		CCAGATGTCACTTACGTCAAGAAG	0.593																																																0																																										SO:0001589	frameshift_variant	6522				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.3458_3461delACTT	7.37:g.150772849_150772852delACTT	ENSP00000419412:p.Asn1153fs		B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Frame_Shift_Del	DEL	ENST00000485713.1	37	CCDS5917.1																																																																																				0.593	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1	NM_003040		-	150772852	ACTT	-	150772849	7	5	716	1	0	1	0	1	0	0	0	0	14660	565	20	0	3536	0	SLC4A2	7	150772849	Frame_Shift_Del	DEL	ACTT	TCGA-KM-8438-01A-11D-2310-10	1	150772849	8365814	32	40124	345	2									
MLL3	58508	mdanderson.org	37	7	151945349	151945349	+	Nonsense_Mutation	SNP	T	T	A	rs201039690		TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr7:151945349T>A	ENST00000262189.6	-	14	2388	c.2170A>T	c.(2170-2172)Aag>Tag	p.K724*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.K724*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	724					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.K724*(4)									TTCTGTTCCTTTTCTCCTTGT	0.398																																																4	Substitution - Nonsense(4)	kidney(2)|skin(2)											70	69	69					7																	151945349		2203	4300	6503	SO:0001587	stop_gained	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.2170A>T	7.37:g.151945349T>A	ENSP00000262189:p.Lys724*		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	T	37	6.120169	0.97300	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.13	-1.83	0.07833	.	0.648456	0.13994	N	0.348586	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	1.3853	0.02239	0.12:0.2536:0.2465:0.3799	.	.	.	.	X	724	.	ENSP00000262189:K724X	K	-	1	0	MLL3	151576282	0.000000	0.05858	0.029000	0.17559	0.083000	0.17756	-0.061000	0.11693	-0.613000	0.05694	-0.321000	0.08615	AAG		0.398	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			A	151945349	T	A	151945349	4	1	716	1	0	0	0	0	0	1	0	0	9624	1850	64	5	12749	5	MLL3	7	151945349	Nonsense_Mutation	SNP	T	TCGA-KM-8438-01A-11D-2310-10	1172500	151945349	7193314	33	40125											
EFHA2	286097	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	8	16935352	16935352	+	Nonsense_Mutation	SNP	C	C	T	rs150021056		TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr8:16935352C>T	ENST00000318063.5	+	4	670	c.628C>T	c.(628-630)Cga>Tga	p.R210*		NM_181723.2	NP_859074.1	Q86XE3	MICU3_HUMAN	mitochondrial calcium uptake family, member 3	210						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)	p.R210*(2)									GAAGCTATTTCGAAATCTTAA	0.303																																																2	Substitution - Nonsense(2)	large_intestine(1)|skin(1)						C	stop/ARG	2,4404	4.2+/-10.8	0,2,2201	66	62	63		628	3	1	8	dbSNP_134	63	0,8598		0,0,4299	yes	stop-gained	EFHA2	NM_181723.2		0,2,6500	TT,TC,CC		0.0,0.0454,0.0154		210/531	16935352	2,13002	2203	4299	6502	SO:0001587	stop_gained	286097			BC032868	CCDS5999.1	8p22	2013-03-26	2013-03-26	2013-03-14	ENSG00000155970	ENSG00000155970		"EF-hand domain containing"	27820	protein-coding gene	gene with protein product		610633	"EF hand domain family A2", "EF-hand domain family, member A2"	EFHA2		23409044	Standard	NM_181723		Approved	DKFZp313A0139	uc003wxd.2	Q86XE3	OTTHUMG00000096965	ENST00000318063.5:c.628C>T	8.37:g.16935352C>T	ENSP00000321455:p.Arg210*		Q8IYZ3	Nonsense_Mutation	SNP	ENST00000318063.5	37	CCDS5999.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.10|16.10	3.028534|3.028534	0.54790|0.54790	4.54E-4|4.54E-4	0.0|0.0	ENSG00000155970|ENSG00000155970	ENST00000318063|ENST00000517398	.|.	.|.	.|.	4.88|4.88	3.05|3.05	0.35203|0.35203	.|.	0.148150|.	0.46758|.	D|.	0.000269|.	.|T	.|0.51500	.|0.1678	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.59386	.|-0.7464	.|3	0.07644|.	T|.	0.81|.	-27.3167|-27.3167	9.9373|9.9373	0.41559|0.41559	0.1382:0.7888:0.0:0.073|0.1382:0.7888:0.0:0.073	.|.	.|.	.|.	.|.	X|L	210|49	.|.	ENSP00000321455:R210X|.	R|S	+|+	1|2	2|0	EFHA2|EFHA2	16979723|16979723	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.792000|0.792000	0.44763|0.44763	3.275000|3.275000	0.51639|0.51639	0.564000|0.564000	0.29238|0.29238	-0.535000|-0.535000	0.04281|0.04281	CGA|TCG		0.303	MICU3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214031.1	NM_181723		T	16935352	C	T	16935352	4	4	716	1	0	0	0	0	0	1	0	0	4946	876	31	1	642	1	EFHA2	8	16935352	Nonsense_Mutation	SNP	C	TCGA-KM-8438-01A-11D-2310-10		16935352	129428670	34	40126											
RNF122	79845	broad.mit.edu;bcgsc.ca	37	8	33408896	33408896	+	Missense_Mutation	SNP	T	T	C			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr8:33408896T>C	ENST00000256257.1	-	3	595	c.194A>G	c.(193-195)aAc>aGc	p.N65S		NM_024787.2	NP_079063.2	Q9H9V4	RN122_HUMAN	ring finger protein 122	65						endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(67;0.0966)|Kidney(114;0.116)		CTGTGCCTGGTTCCGCAGTTT	0.493																																																0													132	113	120					8																	33408896		2203	4300	6503	SO:0001583	missense	79845			AK022588	CCDS6091.1	8p12	2013-01-09			ENSG00000133874	ENSG00000133874		"RING-type (C3HC4) zinc fingers"	21147	protein-coding gene	gene with protein product							Standard	NM_024787		Approved	FLJ12526	uc003xjo.1	Q9H9V4	OTTHUMG00000163960	ENST00000256257.1:c.194A>G	8.37:g.33408896T>C	ENSP00000256257:p.Asn65Ser		Q52LK3	Missense_Mutation	SNP	ENST00000256257.1	37	CCDS6091.1	.	.	.	.	.	.	.	.	.	.	T	17.66	3.444231	0.63067	.	.	ENSG00000133874	ENST00000256257	T	0.30448	1.53	5.88	5.88	0.94601	.	0.088003	0.85682	D	0.000000	T	0.19565	0.0470	N	0.14661	0.345	0.39976	D	0.974855	B	0.06786	0.001	B	0.04013	0.001	T	0.10291	-1.0636	10	0.21540	T	0.41	-33.6107	14.5307	0.67923	0.0:0.0:0.0:1.0	.	65	Q9H9V4	RN122_HUMAN	S	65	ENSP00000256257:N65S	ENSP00000256257:N65S	N	-	2	0	RNF122	33528438	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.110000	0.77069	2.246000	0.74042	0.533000	0.62120	AAC		0.493	RNF122-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376562.1	NM_024787		C	33408896	T	C	33408896	3	2	716	1	0	0	0	0	1	0	0	0	13438	1725	60	3	289	3	RNF122	8	33408896	Missense_Mutation	SNP	T	TCGA-KM-8438-01A-11D-2310-10	16473544	33408896	112955126	35	40127											
RP1	6101	bcgsc.ca	37	8	55538990	55538990	+	Missense_Mutation	SNP	A	A	G	rs112884043		TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr8:55538990A>G	ENST00000220676.1	+	4	2696	c.2548A>G	c.(2548-2550)Atg>Gtg	p.M850V		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	850					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)			TTTGAGAGGAATGGCAAAGAA	0.343																																					Colon(91;1014 1389 7634 14542 40420)											0													44	47	46					8																	55538990		2203	4299	6502	SO:0001583	missense	6101			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.2548A>G	8.37:g.55538990A>G	ENSP00000220676:p.Met850Val			Missense_Mutation	SNP	ENST00000220676.1	37	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	A	6.248	0.413831	0.11812	.	.	ENSG00000104237	ENST00000220676	T	0.50277	0.75	5.63	0.138	0.14793	.	0.513050	0.19509	N	0.112549	T	0.29061	0.0722	L	0.43152	1.355	0.23416	N	0.997725	B	0.26318	0.146	B	0.15870	0.014	T	0.08953	-1.0697	10	0.25751	T	0.34	.	2.7202	0.05199	0.622:0.1239:0.1352:0.119	.	850	P56715	RP1_HUMAN	V	850	ENSP00000220676:M850V	ENSP00000220676:M850V	M	+	1	0	RP1	55701543	0.214000	0.23563	0.390000	0.26220	0.771000	0.43674	0.675000	0.25232	0.073000	0.16731	0.533000	0.62120	ATG		0.343	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		G	55538990	A	G	55538990	3	3	716	1	0	0	0	0	1	0	0	0	13538	101	4	3	2558	3	RP1	8	55538990	Missense_Mutation	SNP	A	TCGA-KM-8438-01A-11D-2310-10	22130094	55538990	90825032	36	40128											
FAM82B	51115	broad.mit.edu;hgsc.bcm.edu	37	8	87487151	87487154	+	Frame_Shift_Del	DEL	AAGT	AAGT	-			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	AAGT	AAGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr8:87487151_87487154delAAGT	ENST00000406452.3	-	9	948_951	c.789_792delACTT	c.(787-792)ttacttfs	p.LL265fs	RMDN1_ENST00000519966.1_Intron|RMDN1_ENST00000430676.2_Frame_Shift_Del_p.LL235fs|RMDN1_ENST00000523911.1_Intron	NM_016033.2	NP_057117.2	Q96DB5	RMD1_HUMAN	regulator of microtubule dynamics 1	265						microtubule (GO:0005874)|mitochondrion (GO:0005739)											TTCCTAAAAGAAGTAAGTTTTTGC	0.368																																																0																																										SO:0001589	frameshift_variant	51115			AK000672	CCDS34918.1, CCDS69509.1, CCDS69510.1	8q21.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000176623	ENSG00000176623			24285	protein-coding gene	gene with protein product		611871	"family with sequence similarity 82, member B"	FAM82B		10810093	Standard	NM_016033		Approved	CGI-90, FLJ20665, RMD1	uc003ydu.3	Q96DB5	OTTHUMG00000163692	ENST00000406452.3:c.789_792delACTT	8.37:g.87487155_87487158delAAGT	ENSP00000385927:p.Leu265fs		A9UMZ8|B4DNF5|B4DZW6|B5MC61|C9JSC6|E7EVI2|Q9Y398	Frame_Shift_Del	DEL	ENST00000406452.3	37	CCDS34918.1																																																																																				0.368	RMDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374770.2	NM_016033		-	87487154	AAGT	-	87487151	7	5	716	1	0	1	0	1	0	0	0	0	5634	233	9	0	160	0	FAM82B	8	87487151	Frame_Shift_Del	DEL	AAGT	TCGA-KM-8438-01A-11D-2310-10	31948161	87487151	58876871	37	40129	346	2									
FAM82B	51115	bcgsc.ca	37	8	87487152	87487155	+	Frame_Shift_Del	DEL	AAGT	AAGT	-			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	AAGT	AAGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr8:87487152_87487155delAAGT	ENST00000406452.3	-	9	947_950	c.788_791delACTT	c.(787-792)tactttfs	p.YF263fs	RMDN1_ENST00000519966.1_Intron|RMDN1_ENST00000430676.2_Frame_Shift_Del_p.YF233fs|RMDN1_ENST00000523911.1_Intron	NM_016033.2	NP_057117.2	Q96DB5	RMD1_HUMAN	regulator of microtubule dynamics 1	263						microtubule (GO:0005874)|mitochondrion (GO:0005739)											TCCTAAAAGAAGTAAGTTTTTGCT	0.368																																																0																																										SO:0001589	frameshift_variant	51115			AK000672	CCDS34918.1, CCDS69509.1, CCDS69510.1	8q21.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000176623	ENSG00000176623			24285	protein-coding gene	gene with protein product		611871	"family with sequence similarity 82, member B"	FAM82B		10810093	Standard	NM_016033		Approved	CGI-90, FLJ20665, RMD1	uc003ydu.3	Q96DB5	OTTHUMG00000163692	ENST00000406452.3:c.788_791delACTT	8.37:g.87487152_87487155delAAGT	ENSP00000385927:p.Tyr263fs		A9UMZ8|B4DNF5|B4DZW6|B5MC61|C9JSC6|E7EVI2|Q9Y398	Frame_Shift_Del	DEL	ENST00000406452.3	37	CCDS34918.1																																																																																				0.368	RMDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374770.2	NM_016033		-	87487155	AAGT	-	87487152	7	5	716	1	0	1	0	1	0	0	0	0	5634	72	3	0	161	0	FAM82B	8	87487152	Frame_Shift_Del	DEL	AAGT	TCGA-KM-8438-01A-11D-2310-10	1	87487152	58876870	38	40130	346	2									
RPL30	6156	ucsc.edu	37	8	99054067	99054067	+	Missense_Mutation	SNP	T	T	C			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr8:99054067T>C	ENST00000521291.1	-	4	456	c.310A>G	c.(310-312)Atc>Gtc	p.I104V	RPL30_ENST00000287038.3_Missense_Mutation_p.I104V|RPL30_ENST00000396070.2_Missense_Mutation_p.I85V|KB-1208A12.3_ENST00000501016.2_RNA|RPL30_ENST00000518164.1_Intron|SNORA72_ENST00000384339.1_RNA|RPL30_ENST00000523172.1_Missense_Mutation_p.I40V			P62888	RL30_HUMAN	ribosomal protein L30	104					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			kidney(2)|lung(4)|skin(1)	7	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.192)			CTTCTAATGATGTCAGAGTCA	0.303																																																0													51	52	51					8																	99054067		2203	4300	6503	SO:0001583	missense	6156				CCDS34928.1	8q22	2013-05-09			ENSG00000156482	ENSG00000156482		"L ribosomal proteins"	10333	protein-coding gene	gene with protein product		180467				1577483	Standard	NM_000989		Approved	L30	uc003yif.3	P62888	OTTHUMG00000164796	ENST00000521291.1:c.310A>G	8.37:g.99054067T>C	ENSP00000428085:p.Ile104Val		B2R591|P04645|Q502Z6	Missense_Mutation	SNP	ENST00000521291.1	37	CCDS34928.1	.	.	.	.	.	.	.	.	.	.	T	15.44	2.835143	0.50951	.	.	ENSG00000156482	ENST00000521291;ENST00000396070;ENST00000287038;ENST00000523172;ENST00000521726	T;T;T;T	0.58060	0.36;0.36;0.36;0.36	5.1	3.92	0.45320	Ribosomal protein L7Ae/L30e/S12e/Gadd45 (1);	0.000000	0.85682	D	0.000000	T	0.64494	0.2603	H	0.95437	3.67	0.58432	D	0.999999	B	0.15141	0.012	B	0.22152	0.038	T	0.65961	-0.6041	10	0.66056	D	0.02	-2.787	10.1382	0.42719	0.1491:0.0:0.0:0.8509	.	104	P62888	RL30_HUMAN	V	104;85;104;40;104	ENSP00000428085:I104V;ENSP00000287038:I104V;ENSP00000430506:I40V;ENSP00000429483:I104V	ENSP00000287038:I104V	I	-	1	0	RPL30	99123243	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.529000	0.81952	0.854000	0.35336	0.454000	0.30748	ATC		0.303	RPL30-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380450.1			C	99054067	T	C	99054067	3	2	716	1	0	0	0	0	1	0	0	0	13586	1464	51	3	41	3	RPL30	8	99054067	Missense_Mutation	SNP	T	TCGA-KM-8438-01A-11D-2310-10	11566915	99054067	47309955	39	40131											
FLJ46321	389763	mdanderson.org	37	9	84607651	84607651	+	Missense_Mutation	SNP	T	T	C			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr9:84607651T>C	ENST00000344803.2	+	4	2313	c.2266T>C	c.(2266-2268)Ttc>Ctc	p.F756L		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	756					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CCCTAGAAGCTTCCACGAGAG	0.463																																																0													50	45	47					9																	84607651		1814	4071	5885	SO:0001583	missense	389763				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"family with sequence similarity 75, member D1"	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.2266T>C	9.37:g.84607651T>C	ENSP00000341988:p.Phe756Leu			Missense_Mutation	SNP	ENST00000344803.2	37	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	T	8.889	0.953501	0.18431	.	.	ENSG00000214929	ENST00000344803	T	0.05258	3.47	2.81	-1.47	0.08772	.	1.033220	0.07726	N	0.944536	T	0.05044	0.0135	L	0.53249	1.67	0.09310	N	1	P	0.35456	0.502	B	0.34722	0.188	T	0.39057	-0.9632	10	0.10377	T	0.69	-6.7016	0.374	0.00384	0.2211:0.1411:0.2268:0.411	.	756	Q6ZQQ2	F75D1_HUMAN	L	756	ENSP00000341988:F756L	ENSP00000341988:F756L	F	+	1	0	FAM75D1	83797471	0.000000	0.05858	0.003000	0.11579	0.011000	0.07611	-1.518000	0.02246	-0.290000	0.09025	0.418000	0.28097	TTC		0.463	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		C	84607651	T	C	84607651	3	2	716	1	0	0	0	0	1	0	0	0	5934	1609	56	3	2280	3	FLJ46321	9	84607651	Missense_Mutation	SNP	T	TCGA-KM-8438-01A-11D-2310-10		84607651	56605780	40	40132											
GAS1	2619	ucsc.edu	37	9	89561028	89561028	+	Missense_Mutation	SNP	C	C	T			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr9:89561028C>T	ENST00000298743.7	-	1	1076	c.667G>A	c.(667-669)Gtg>Atg	p.V223M	RP11-276H19.1_ENST00000415801.1_lincRNA	NM_002048.2	NP_002039.2	P54826	GAS1_HUMAN	growth arrest-specific 1	223					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cerebellum morphogenesis (GO:0021587)|developmental growth (GO:0048589)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|eye morphogenesis (GO:0048592)|middle ear morphogenesis (GO:0042474)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein processing (GO:0010955)|negative regulation of smoothened signaling pathway (GO:0045879)|odontogenesis (GO:0042476)|outer ear morphogenesis (GO:0042473)|palate development (GO:0060021)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|programmed cell death (GO:0012501)|regulation of apoptotic process (GO:0042981)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|regulation of smoothened signaling pathway (GO:0008589)	anchored component of plasma membrane (GO:0046658)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(1)|lung(2)|skin(1)	4						CCGTCGCACACGCAGTCGTTG	0.677																																																0													26	25	25					9																	89561028		2203	4300	6503	SO:0001583	missense	2619				CCDS6674.1	9q21.3-q22	2008-07-21			ENSG00000180447	ENSG00000180447			4165	protein-coding gene	gene with protein product	"Growth arrest-specific gene-1"	139185				8307588	Standard	NM_002048		Approved		uc004aox.4	P54826	OTTHUMG00000020141	ENST00000298743.7:c.667G>A	9.37:g.89561028C>T	ENSP00000298743:p.Val223Met		B9EGM4|Q6B086	Missense_Mutation	SNP	ENST00000298743.7	37	CCDS6674.1	.	.	.	.	.	.	.	.	.	.	C	14.48	2.547253	0.45383	.	.	ENSG00000180447	ENST00000298743	T	0.63255	-0.03	4.49	3.51	0.40186	GDNF/GAS1 (2);	0.098848	0.40640	U	0.001049	T	0.70439	0.3224	L	0.48642	1.525	0.42504	D	0.992941	D	0.89917	1.0	D	0.74674	0.984	T	0.70149	-0.4951	10	0.38643	T	0.18	1.9743	13.1526	0.59498	0.1608:0.8392:0.0:0.0	.	223	P54826	GAS1_HUMAN	M	223	ENSP00000298743:V223M	ENSP00000298743:V223M	V	-	1	0	GAS1	88750848	1.000000	0.71417	1.000000	0.80357	0.015000	0.08874	4.172000	0.58243	2.046000	0.60703	0.549000	0.68633	GTG		0.677	GAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052928.1	NM_002048		T	89561028	C	T	89561028	3	4	716	1	0	0	0	0	1	0	0	0	6246	536	19	1	374	1	GAS1	9	89561028	Missense_Mutation	SNP	C	TCGA-KM-8438-01A-11D-2310-10	4953377	89561028	51652403	41	40133											
NCS1	23413	ucsc.edu	37	9	132934986	132934986	+	Missense_Mutation	SNP	A	A	G			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr9:132934986A>G	ENST00000372398.3	+	1	130	c.44A>G	c.(43-45)gAg>gGg	p.E15G		NM_014286.3	NP_055101.2	P62166	NCS1_HUMAN	neuronal calcium sensor 1	15					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						GTTGTGGAGGAGCTGACCAGG	0.756																																					Melanoma(30;182 1162 22581 33240)											0													24	17	20					9																	132934986		2184	4280	6464	SO:0001583	missense	23413			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	ENST00000372398.3:c.44A>G	9.37:g.132934986A>G	ENSP00000361475:p.Glu15Gly		E9PAY3|P36610|Q9UK26	Missense_Mutation	SNP	ENST00000372398.3	37	CCDS6932.1	.	.	.	.	.	.	.	.	.	.	a	13.10	2.136236	0.37728	.	.	ENSG00000107130	ENST00000372398	T	0.30981	1.51	2.38	2.38	0.29361	EF-hand-like domain (1);	0.071909	0.53938	U	0.000054	T	0.41604	0.1166	H	0.94964	3.605	0.80722	D	1	B	0.25719	0.132	B	0.18561	0.022	T	0.47699	-0.9097	10	0.62326	D	0.03	.	8.2937	0.31973	1.0:0.0:0.0:0.0	.	15	P62166	NCS1_HUMAN	G	15	ENSP00000361475:E15G	ENSP00000361475:E15G	E	+	2	0	NCS1	131974807	1.000000	0.71417	0.998000	0.56505	0.724000	0.41520	2.598000	0.46223	0.850000	0.35239	0.149000	0.16113	GAG		0.756	NCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054637.1	NM_014286		G	132934986	A	G	132934986	3	3	716	1	0	0	0	0	1	0	0	0	10242	304	11	3	46	3	NCS1	9	132934986	Missense_Mutation	SNP	A	TCGA-KM-8438-01A-11D-2310-10	43373958	132934986	8278445	42	40134											
TUBB8	347688	mdanderson.org	37	10	93804	93804	+	Silent	SNP	C	C	T	rs9329304	byFrequency	TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr10:93804C>T	ENST00000309812.4	-	4	590	c.528G>A	c.(526-528)tcG>tcA	p.S176S	TUBB8_ENST00000332708.5_3'UTR|TUBB8_ENST00000447903.2_Silent_p.S104S|TUBB8_ENST00000413237.3_5'UTR	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	176					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)		CCACGGTGTCCGACACCTTGG	0.537																																					Pancreas(192;2041 3010 9013 18103)											0								T		308,4098	763.7+/-413.2	0,308,1895	102	92	95		528		0.2	10	dbSNP_119	95	11,8573	794.8+/-407.5	0,11,4281	no	coding-synonymous	TUBB8	NM_177987.2		0,319,6176	TT,TC,CC		0.1281,6.9905,2.4557		176/445	93804	319,12671	2203	4292	6495	SO:0001819	synonymous_variant	347688			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.528G>A	10.37:g.93804C>T			Q5SQX9|Q8WZ78	Silent	SNP	ENST00000309812.4	37	CCDS7051.1																																																																																				0.537	TUBB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467795.1	NM_177987		T	93804	C	T	93804	2	4	716	1	0	0	0	0	0	0	0	1	16766	639	23	1		1	TUBB8	10	93804	Silent	SNP	C	TCGA-KM-8438-01A-11D-2310-10		93804	135440943	43	40135											
MUC6	4588	mdanderson.org	37	11	1016871	1016871	+	Missense_Mutation	SNP	G	G	T	rs554068781		TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr11:1016871G>T	ENST00000421673.2	-	31	5980	c.5930C>A	c.(5929-5931)cCc>cAc	p.P1977H		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1977	Thr-rich.				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)		GGAAGAGAAGGGACTGCTCCC	0.587																																																0													1308	1300	1302					11																	1016871		2203	4299	6502	SO:0001583	missense	4588			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.5930C>A	11.37:g.1016871G>T	ENSP00000406861:p.Pro1977His		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.923756	0.34002	.	.	ENSG00000184956	ENST00000421673	T	0.18657	2.2	2.69	1.71	0.24356	.	.	.	.	.	T	0.14614	0.0353	L	0.29908	0.895	0.09310	N	1	B	0.29212	0.237	B	0.28553	0.091	T	0.22382	-1.0218	9	0.56958	D	0.05	.	7.0992	0.25327	0.0:0.0:0.7301:0.2699	.	1977	Q6W4X9	MUC6_HUMAN	H	1977	ENSP00000406861:P1977H	ENSP00000406861:P1977H	P	-	2	0	MUC6	1006871	0.015000	0.18098	0.001000	0.08648	0.026000	0.11368	1.250000	0.32850	0.416000	0.25844	0.306000	0.20318	CCC		0.587	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		T	1016871	G	T	1016871	3	4	716	1	0	0	0	0	1	0	0	0	9982	1232	43	4	1401	4	MUC6	11	1016871	Missense_Mutation	SNP	G	TCGA-KM-8438-01A-11D-2310-10		1016871	133989645	44	40136											
MUC6	4588	mdanderson.org	37	11	1017152	1017152	+	Missense_Mutation	SNP	G	G	C			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr11:1017152G>C	ENST00000421673.2	-	31	5699	c.5649C>G	c.(5647-5649)atC>atG	p.I1883M		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1883	Approximate repeats.|Thr-rich.			PTTIKA -> LTTLMN (in Ref. 5; AAA35866). {ECO:0000305}.	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)		CTGTGGCCTTGATCGTGGTCG	0.562																																																0													568	561	564					11																	1017152		2202	4287	6489	SO:0001583	missense	4588			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.5649C>G	11.37:g.1017152G>C	ENSP00000406861:p.Ile1883Met		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	10.70	1.422707	0.25639	.	.	ENSG00000184956	ENST00000421673	T	0.22539	1.95	2.4	-2.53	0.06326	.	.	.	.	.	T	0.19127	0.0459	N	0.21448	0.665	0.09310	N	1	D	0.54207	0.965	P	0.59012	0.85	T	0.11470	-1.0586	9	0.33940	T	0.23	.	2.4101	0.04422	0.1196:0.3184:0.3879:0.174	.	1883	Q6W4X9	MUC6_HUMAN	M	1883	ENSP00000406861:I1883M	ENSP00000406861:I1883M	I	-	3	3	MUC6	1007152	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.412000	0.07132	-0.608000	0.05731	-0.657000	0.03884	ATC		0.562	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		C	1017152	G	C	1017152	3	2	716	1	0	0	0	0	1	0	0	0	9982	1280	45	4	1682	4	MUC6	11	1017152	Missense_Mutation	SNP	G	TCGA-KM-8438-01A-11D-2310-10	281	1017152	133989364	45	40137											
MUC5B	727897	mdanderson.org	37	11	1270383	1270383	+	Silent	SNP	G	G	A	rs61869661	byFrequency	TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr11:1270383G>A	ENST00000529681.1	+	31	12331	c.12273G>A	c.(12271-12273)acG>acA	p.T4091T	MUC5B_ENST00000447027.1_Silent_p.T4094T|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4091	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)		GCCACACCACGGCCACCTCCA	0.701													G|||	37	0.00738818	0.0	0.0173	5008	,	,		14467	0.002		0.0199	False		,,,				2504	0.0031															0								G		19,4175		1,17,2079	91	126	114		12273	-4.3	0	11	dbSNP_129	114	160,8248		5,150,4049	no	coding-synonymous	MUC5B	NM_002458.2		6,167,6128	AA,AG,GG		1.9029,0.453,1.4204		4091/5763	1270383	179,12423	2097	4204	6301	SO:0001819	synonymous_variant	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.12273G>A	11.37:g.1270383G>A			O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	CCDS44515.2																																																																																				0.701	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		A	1270383	G	A	1270383	2	1	716	1	0	0	0	0	0	0	0	1	9981	1103	39	1		1	MUC5B	11	1270383	Silent	SNP	G	TCGA-KM-8438-01A-11D-2310-10	253231	1270383	133736133	46	40138			1	82		2	2	19	G		5.232974e-05
MUC5B	727897	mdanderson.org	37	11	1270401	1270401	+	Silent	SNP	G	G	A	rs201512746	byFrequency	TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr11:1270401G>A	ENST00000529681.1	+	31	12349	c.12291G>A	c.(12289-12291)acG>acA	p.T4097T	MUC5B_ENST00000447027.1_Silent_p.T4100T|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4097	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)		p.A4055_T4056delAT(1)		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)		CCAGGACCACGGCCACGGCCA	0.711																																																1	Deletion - In frame(1)	ovary(1)											68	100	89					11																	1270401		2087	4191	6278	SO:0001819	synonymous_variant	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.12291G>A	11.37:g.1270401G>A			O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	CCDS44515.2																																																																																				0.711	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		A	1270401	G	A	1270401	2	1	716	1	0	0	0	0	0	0	0	1	9981	1103	39	1		1	MUC5B	11	1270401	Silent	SNP	G	TCGA-KM-8438-01A-11D-2310-10	18	1270401	133736115	47	40139			1	82		2	2	19	G		5.232974e-05
TRPM5	29850	mdanderson.org	37	11	2435946	2435946	+	Splice_Site	SNP	A	A	G	rs4929981	byFrequency	TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr11:2435946A>G	ENST00000155858.6	-	11	1751	c.1743T>C	c.(1741-1743)ctT>ctC	p.L581L	TRPM5_ENST00000533060.1_Splice_Site_p.L581L|TRPM5_ENST00000528453.1_Splice_Site_p.L581L|TRPM5_ENST00000452833.1_Splice_Site_p.L583L	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)		gTCACTCACCAAGGGCCAGCC	0.711													A|||	3808	0.760383	0.6286	0.83	5008	,	,		13145	0.9048		0.7117	False		,,,				2504	0.7904				NSCLC(1;49 61 17205 18850 43201)											0								A		2544,1064		900,744,160	4	5	5		1743	-0.7	1	11	dbSNP_111	5	5370,1840		2019,1332,254	no	coding-synonymous-near-splice	TRPM5	NM_014555.3		2919,2076,414	GG,GA,AA		25.5201,29.49,26.8441		581/1166	2435946	7914,2904	1804	3605	5409	SO:0001630	splice_region_variant	29850			AF177473	CCDS31340.1	11p15.5	2011-12-14			ENSG00000070985	ENSG00000070985		"Voltage-gated ion channels / Transient receptor potential cation channels"	14323	protein-coding gene	gene with protein product		604600				10607831, 16382100	Standard	NM_014555		Approved	LTRPC5, MTR1	uc001lwm.4	Q9NZQ8	OTTHUMG00000009896	ENST00000155858.6:c.1744+1T>C	11.37:g.2435946A>G				Silent	SNP	ENST00000155858.6	37	CCDS31340.1																																																																																				0.711	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000027378.1	NM_014555	Silent	G	2435946	A	G	2435946	5	3	716	1	0	0	0	0	0	0	1	0	16594	144	5	3	1810	3	TRPM5	11	2435946	Splice_Site	SNP	A	TCGA-KM-8438-01A-11D-2310-10	1165545	2435946	132570570	48	40140											
SYT9	143425	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	11	7324616	7324616	+	Silent	SNP	G	G	A			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr11:7324616G>A	ENST00000318881.6	+	2	729	c.492G>A	c.(490-492)tcG>tcA	p.S164S	SYT9_ENST00000396716.2_Silent_p.S132S	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	164					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)		CAACCTCGTCGGCCCGGTCAG	0.587																																																0																																										SO:0001819	synonymous_variant	143425			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.492G>A	11.37:g.7324616G>A				Silent	SNP	ENST00000318881.6	37	CCDS7778.1																																																																																				0.587	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384483.1	NM_175733		A	7324616	G	A	7324616	2	1	716	1	0	0	0	0	0	0	0	1	15486	1103	39	1		1	SYT9	11	7324616	Silent	SNP	G	TCGA-KM-8438-01A-11D-2310-10	4888670	7324616	127681900	49	40141											
CALCB	797	broad.mit.edu;mdanderson.org	37	11	15096731	15096731	+	Missense_Mutation	SNP	A	A	G			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr11:15096731A>G	ENST00000533448.1	+	3	322	c.211A>G	c.(211-213)Aca>Gca	p.T71A	CALCB_ENST00000523376.1_Missense_Mutation_p.T82A|CALCB_ENST00000324229.6_Missense_Mutation_p.T71A			P10092	CALCB_HUMAN	calcitonin-related polypeptide beta	71					cellular calcium ion homeostasis (GO:0006874)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)			endometrium(1)|large_intestine(1)|lung(1)|skin(2)	5						GGAGCAGGAGACACAGGGCTC	0.617											OREG0020793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													66	69	68					11																	15096731		2200	4294	6494	SO:0001583	missense	797				CCDS7820.1	11p14.2-p12	2013-02-25	2008-02-20			ENSG00000175868		"Endogenous ligands"	1438	protein-coding gene	gene with protein product		114160	"calcitonin 2"	CALC2			Standard	NM_000728		Approved	FLJ30166, CGRP-II	uc001mlx.1	P10092		ENST00000533448.1:c.211A>G	11.37:g.15096731A>G	ENSP00000433490:p.Thr71Ala	700	A8K573|D3DQX4|Q569I0|Q9UCN9	Missense_Mutation	SNP	ENST00000533448.1	37	CCDS7820.1	.	.	.	.	.	.	.	.	.	.	A	3.803	-0.041286	0.07452	.	.	ENSG00000175868	ENST00000523376;ENST00000324229;ENST00000533448	T;T;T	0.22743	1.94;1.94;1.94	4.21	-4.08	0.03963	.	0.664761	0.14008	N	0.347681	T	0.10121	0.0248	L	0.39514	1.22	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.40534	-0.9558	10	0.08837	T	0.75	-2.6446	1.9945	0.03453	0.4014:0.1338:0.3345:0.1303	.	71	P10092	CALCB_HUMAN	A	82;71;71	ENSP00000428882:T82A;ENSP00000346017:T71A;ENSP00000433490:T71A	ENSP00000346017:T71A	T	+	1	0	CALCB	15053307	0.013000	0.17824	0.000000	0.03702	0.187000	0.23431	0.309000	0.19332	-0.830000	0.04262	0.454000	0.30748	ACA		0.617	CALCB-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387433.1	NM_000728		G	15096731	A	G	15096731	3	3	716	1	0	0	0	0	1	0	0	0	2578	275	10	3	217	3	CALCB	11	15096731	Missense_Mutation	SNP	A	TCGA-KM-8438-01A-11D-2310-10	7772115	15096731	119909785	50	40142											
FOLH1	2346	mdanderson.org	37	11	49204779	49204779	+	Missense_Mutation	SNP	C	C	T	rs116795343	byFrequency	TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr11:49204779C>T	ENST00000256999.2	-	7	1102	c.842G>A	c.(841-843)cGt>cAt	p.R281H	FOLH1_ENST00000356696.3_Missense_Mutation_p.R281H|FOLH1_ENST00000533034.1_Missense_Mutation_p.R266H|FOLH1_ENST00000340334.7_Missense_Mutation_p.R266H|FOLH1_ENST00000343844.4_De_novo_Start_OutOfFrame	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	281	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)	p.R281L(1)		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)	TGCAATTCCACGCCTATAAGC	0.348																																																1	Substitution - Missense(1)	lung(1)											72	73	73					11																	49204779		2201	4298	6499	SO:0001583	missense	2346			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.842G>A	11.37:g.49204779C>T	ENSP00000256999:p.Arg281His		A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Missense_Mutation	SNP	ENST00000256999.2	37	CCDS7946.1	.	.	.	.	.	.	.	.	.	.	C	2.929	-0.221410	0.06061	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000533034;ENST00000389724	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	2.76	-1.12	0.09808	.	0.978445	0.08346	N	0.960084	T	0.21427	0.0516	N	0.14661	0.345	0.80722	D	1	B;B;B;B	0.06786	0.001;0.001;0.0;0.0	B;B;B;B	0.06405	0.001;0.0;0.002;0.0	T	0.23655	-1.0182	10	0.14656	T	0.56	.	6.6038	0.22714	0.0:0.3193:0.0:0.6807	.	266;266;281;281	Q04609-9;Q04609-7;Q04609-8;Q04609	.;.;.;FOLH1_HUMAN	H	281;281;266;266;281	ENSP00000256999:R281H;ENSP00000349129:R281H;ENSP00000344131:R266H;ENSP00000431463:R266H	ENSP00000256999:R281H	R	-	2	0	FOLH1	49161355	0.002000	0.14202	0.792000	0.32020	0.272000	0.26649	-0.922000	0.04004	-0.085000	0.12573	0.194000	0.17425	CGT		0.348	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476		T	49204779	C	T	49204779	3	4	716	1	0	0	0	0	1	0	0	0	5981	536	19	1	1462	1	FOLH1	11	49204779	Missense_Mutation	SNP	C	TCGA-KM-8438-01A-11D-2310-10	34108048	49204779	85801737	51	40143			2	83	47934378	2	2	12	N	C_A	3.197961e-05
FOLH1	2346	mdanderson.org	37	11	49204790	49204790	+	Silent	SNP	A	A	G	rs76509850	byFrequency	TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr11:49204790A>G	ENST00000256999.2	-	7	1091	c.831T>C	c.(829-831)taT>taC	p.Y277Y	FOLH1_ENST00000356696.3_Silent_p.Y277Y|FOLH1_ENST00000533034.1_Silent_p.Y262Y|FOLH1_ENST00000340334.7_Silent_p.Y262Y|FOLH1_ENST00000343844.4_5'UTR	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	277	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)	GCCTATAAGCATATTCTGAAA	0.343																																																0													61	61	61					11																	49204790		2201	4298	6499	SO:0001819	synonymous_variant	2346			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.831T>C	11.37:g.49204790A>G			A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Silent	SNP	ENST00000256999.2	37	CCDS7946.1																																																																																				0.343	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476		G	49204790	A	G	49204790	2	3	716	1	0	0	0	0	0	0	0	1	5981	224	8	3		3	FOLH1	11	49204790	Silent	SNP	A	TCGA-KM-8438-01A-11D-2310-10	11	49204790	85801726	52	40144			2	83	47934378	2	2	12	N	C_A	3.197961e-05
OR4D10	390197	broad.mit.edu	37	11	59245050	59245050	+	Missense_Mutation	SNP	A	A	G			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr11:59245050A>G	ENST00000530162.1	+	1	205	c.148A>G	c.(148-150)Acc>Gcc	p.T50A		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	50						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGTCACTGTTACCTGTGAATC	0.448																																																0													188	194	192					11																	59245050		2142	4275	6417	SO:0001583	missense	390197			AB065808	CCDS53636.1	11q12.1	2012-10-03		2004-03-10	ENSG00000254466	ENSG00000254466		"GPCR / Class A : Olfactory receptors"	15173	protein-coding gene	gene with protein product				OR4D10P			Standard	NM_001004705		Approved	OST711	uc001nnz.1	Q8NGI6	OTTHUMG00000167341	ENST00000530162.1:c.148A>G	11.37:g.59245050A>G	ENSP00000436424:p.Thr50Ala		B2RNH6	Missense_Mutation	SNP	ENST00000530162.1	37	CCDS53636.1	.	.	.	.	.	.	.	.	.	.	A	5.242	0.230125	0.09969	.	.	ENSG00000254466	ENST00000530162	T	0.01068	5.38	4.4	4.4	0.53042	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01353	0.0044	L	0.33189	0.99	0.24281	N	0.995208	P	0.37663	0.604	B	0.38327	0.271	T	0.52631	-0.8550	9	0.40728	T	0.16	.	8.3873	0.32508	0.8249:0.0:0.0:0.1751	.	50	Q8NGI6	OR4DA_HUMAN	A	50	ENSP00000436424:T50A	ENSP00000436424:T50A	T	+	1	0	OR4D10	59001626	0.000000	0.05858	0.669000	0.29828	0.016000	0.09150	0.428000	0.21395	1.733000	0.51620	0.533000	0.62120	ACC		0.448	OR4D10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394235.1	NM_001004705		G	59245050	A	G	59245050	3	3	716	1	0	0	0	0	1	0	0	0	11056	391	14	3	150	3	OR4D10	11	59245050	Missense_Mutation	SNP	A	TCGA-KM-8438-01A-11D-2310-10	10040260	59245050	75761466	53	40145											
TBC1D10C	374403	ucsc.edu	37	11	67176906	67176906	+	Missense_Mutation	SNP	A	A	G			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr11:67176906A>G	ENST00000542590.1	+	9	1036	c.1022A>G	c.(1021-1023)gAc>gGc	p.D341G	TBC1D10C_ENST00000312390.5_Missense_Mutation_p.D341G|TBC1D10C_ENST00000526387.1_Silent_p.G276G			Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	341					retrograde transport, endosome to Golgi (GO:0042147)	filopodium membrane (GO:0031527)|membrane (GO:0016020)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			TCAGAGCGGGACCTGCAGCGG	0.706																																																0													4	6	5					11																	67176906		1833	3735	5568	SO:0001583	missense	374403			BC035630	CCDS8162.1, CCDS58150.1	11q13.1	2013-07-09			ENSG00000175463	ENSG00000175463			24702	protein-coding gene	gene with protein product		610831				17230191, 20404108	Standard	NM_001256508		Approved	FLJ00332, Carabin, EPI64C	uc001ola.4	Q8IV04	OTTHUMG00000167139	ENST00000542590.1:c.1022A>G	11.37:g.67176906A>G	ENSP00000443654:p.Asp341Gly		G3V1D6	Missense_Mutation	SNP	ENST00000542590.1	37	CCDS8162.1	.	.	.	.	.	.	.	.	.	.	A	13.69	2.312459	0.40895	.	.	ENSG00000175463	ENST00000312390;ENST00000542590	T;T	0.07908	3.15;3.15	5.05	2.62	0.31277	.	0.122213	0.36854	N	0.002374	T	0.07188	0.0182	L	0.36672	1.1	0.53005	D	0.999966	B	0.27416	0.178	B	0.31442	0.13	T	0.32348	-0.9910	10	0.39692	T	0.17	.	6.5476	0.22414	0.6848:0.1611:0.0:0.1541	.	341	Q8IV04	TB10C_HUMAN	G	341	ENSP00000310193:D341G;ENSP00000443654:D341G	ENSP00000310193:D341G	D	+	2	0	TBC1D10C	66933482	0.987000	0.35691	0.962000	0.40283	0.631000	0.37964	2.832000	0.48152	0.357000	0.24183	0.459000	0.35465	GAC		0.706	TBC1D10C-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395492.2	NM_198517		G	67176906	A	G	67176906	3	3	716	1	0	0	0	0	1	0	0	0	15605	275	10	3	1056	3	TBC1D10C	11	67176906	Missense_Mutation	SNP	A	TCGA-KM-8438-01A-11D-2310-10	7931856	67176906	67829610	54	40146											
PRB1	5542	broad.mit.edu	37	12	11506383	11506383	+	Intron	SNP	C	C	T			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr12:11506383C>T	ENST00000500254.2	-	4	351				PRB1_ENST00000546254.1_Intron|PRB1_ENST00000545626.1_Intron	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1							extracellular region (GO:0005576)				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			GTCCTTGTGGCTTTCCTGGAG	0.602																																																0													10	7	8					12																	11506383		1016	2010	3026	SO:0001627	intron_variant	5542				CCDS8642.1, CCDS55805.1	12p13.2	2012-10-02							9337	protein-coding gene	gene with protein product		180989				8317492	Standard	NM_199353		Approved	PM, PMF, PMS, PRB1M, PRB1L	uc001qzu.1	P04280		ENST00000500254.2:c.314-59G>A	12.37:g.11506383C>T			Q08805|Q15186|Q15187|Q15214|Q15215|Q16038	Silent	SNP	ENST00000500254.2	37	CCDS8642.1																																																																																				0.602	PRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402312.1	NM_005039		T	11506383	C	T	11506383	1	4	716	0	1	0	0	0	0	0	0	0	12447	796	28	2		2	PRB1	12	11506383	Intron	SNP	C	TCGA-KM-8438-01A-11D-2310-10		11506383	122345512	55	40147											
TESC	54997	ucsc.edu	37	12	117513078	117513078	+	Silent	SNP	A	A	G			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr12:117513078A>G	ENST00000335209.7	-	2	312	c.126T>C	c.(124-126)atT>atC	p.I42I	TESC_ENST00000392545.4_Silent_p.I95I|TESC_ENST00000541210.1_Silent_p.I42I			Q96BS2	CHP3_HUMAN	tescalcin	42					cell differentiation (GO:0030154)|cellular response to retinoic acid (GO:0071300)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell proliferation (GO:0008285)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of sodium:proton antiporter activity (GO:0032417)|positive regulation of transcription, DNA-templated (GO:0045893)|protein maturation (GO:0051604)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of cell adhesion mediated by integrin (GO:0033628)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|phosphatase inhibitor activity (GO:0019212)|protein homodimerization activity (GO:0042803)|protein kinase inhibitor activity (GO:0004860)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0297)		AATCTTACCGAATGGTAGGCT	0.512																																																0													87	84	85					12																	117513078		2203	4300	6503	SO:0001819	synonymous_variant	54997			AF443207	CCDS9183.2, CCDS9183.3, CCDS53835.1	12q24.22	2013-01-10			ENSG00000088992	ENSG00000088992		"EF-hand domain containing"	26065	protein-coding gene	gene with protein product	"calcineurin-like EF hand protein 3"	611585				11145610, 11696366, 12809501, 14661968	Standard	NM_017899		Approved	TSC, FLJ20607, CHP3	uc001twh.3	Q96BS2	OTTHUMG00000144168	ENST00000335209.7:c.126T>C	12.37:g.117513078A>G			F5H1Y5|Q9NWT9	Silent	SNP	ENST00000335209.7	37	CCDS9183.3																																																																																				0.512	TESC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291363.2	NM_017899		G	117513078	A	G	117513078	2	3	716	1	0	0	0	0	0	0	0	1	15771	242	9	3		3	TESC	12	117513078	Silent	SNP	A	TCGA-KM-8438-01A-11D-2310-10	106006695	117513078	16338817	56	40148											
HNF1A	6927	broad.mit.edu;hgsc.bcm.edu	37	12	121431369	121431370	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr12:121431369_121431370insG	ENST00000257555.6	+	3	799_800	c.573_574insG	c.(574-576)gatfs	p.D192fs	HNF1A_ENST00000400024.2_Frame_Shift_Ins_p.D192fs|HNF1A_ENST00000402929.1_Frame_Shift_Ins_p.D192fs|HNF1A_ENST00000543427.1_Frame_Shift_Ins_p.D75fs|HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000541395.1_Frame_Shift_Ins_p.D192fs|HNF1A_ENST00000544413.1_Frame_Shift_Ins_p.D192fs			P20823	HNF1A_HUMAN	HNF1 homeobox A	192					glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|insulin secretion (GO:0030073)|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)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|renal glucose absorption (GO:0035623)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.G191fs*26(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGCCCACAGGTGATGAGCTACC	0.589									Hepatic Adenoma, Familial Clustering of																																							1	Deletion - Frameshift(1)	liver(1)																																								SO:0001589	frameshift_variant	6927	Familial Cancer Database	incl. Maturity-Onset Diabetes of the Young type 3, MODY3	M57732	CCDS9209.1	12q24.31	2014-09-17	2007-08-24	2007-08-24	ENSG00000135100	ENSG00000135100		"Homeoboxes / HNF class"	11621	protein-coding gene	gene with protein product		142410	"transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor"	MODY3, TCF1		1535333, 7795649	Standard	NM_000545		Approved	HNF1, LFB1	uc001tzg.3	P20823	OTTHUMG00000151015	ENST00000257555.6:c.574dupG	12.37:g.121431370_121431370dupG	ENSP00000257555:p.Asp192fs		A5Z2R8|E0YMJ5|E0YMK0|E0YMK1|E2I9R4|E2I9R5|F5H5U3|Q2M3H2|Q99861	Frame_Shift_Ins	INS	ENST00000257555.6	37	CCDS9209.1																																																																																				0.589	HNF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320957.5	NM_000545		G	121431370	-	G	121431369	7	5	716	1	0	1	1	0	0	0	0	0	7253	1683	59	0	583	0	HNF1A	12	121431369	Frame_Shift_Ins	INS	-	TCGA-KM-8438-01A-11D-2310-10	3918291	121431369	12420526	57	40149											
C1QTNF9	338872	mdanderson.org	37	13	24895797	24895797	+	Missense_Mutation	SNP	G	G	A			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr13:24895797G>A	ENST00000382071.2	+	4	978	c.893G>A	c.(892-894)gGg>gAg	p.G298E	C1QTNF9_ENST00000332018.4_Missense_Mutation_p.G298E|C1QTNF9-AS1_ENST00000449656.1_RNA|AL359736.1_ENST00000422229.2_5'Flank			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	298	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.					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)		CTGAAGCTCGGGGATGAGGTG	0.507																																																0													102	106	105					13																	24895797		2203	4300	6503	SO:0001583	missense	338872			BC040438	CCDS9306.1	13q12.12	2010-08-18			ENSG00000240654	ENSG00000240654			28732	protein-coding gene	gene with protein product		614285				12975309, 18787108	Standard	NM_178540		Approved	MGC48915, CTRP9, C1QTNF9A, AQL1	uc001upj.3	P0C862	OTTHUMG00000016576	ENST00000382071.2:c.893G>A	13.37:g.24895797G>A	ENSP00000371503:p.Gly298Glu		A2A3T6|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4	Missense_Mutation	SNP	ENST00000382071.2	37	CCDS9306.1	.	.	.	.	.	.	.	.	.	.	g	20.4	3.980211	0.74474	.	.	ENSG00000240654	ENST00000382071;ENST00000332018	D;D	0.82255	-1.59;-1.59	3.96	3.96	0.45880	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.100850	0.64402	D	0.000002	D	0.90154	0.6923	M	0.78285	2.405	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	D	0.90374	0.4383	10	0.44086	T	0.13	.	15.5078	0.75753	0.0:0.0:1.0:0.0	.	298	P0C862	C1T9A_HUMAN	E	298	ENSP00000371503:G298E;ENSP00000333737:G298E	ENSP00000333737:G298E	G	+	2	0	C1QTNF9	23793797	1.000000	0.71417	0.915000	0.36163	0.687000	0.40016	6.425000	0.73370	2.180000	0.69256	0.430000	0.28490	GGG		0.507	C1QTNF9-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044177.1	NM_178540		A	24895797	G	A	24895797	3	1	716	1	0	0	0	0	1	0	0	0	1972	1232	43	2	903	2	C1QTNF9	13	24895797	Missense_Mutation	SNP	G	TCGA-KM-8438-01A-11D-2310-10		24895797	90274081	58	40150											
NIN	51199	mdanderson.org;bcgsc.ca	37	14	51237220	51237220	+	Missense_Mutation	SNP	C	C	A			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr14:51237220C>A	ENST00000382041.3	-	12	1510	c.1320G>T	c.(1318-1320)gaG>gaT	p.E440D	NIN_ENST00000530997.2_Missense_Mutation_p.E440D|NIN_ENST00000389868.3_Missense_Mutation_p.E440D|NIN_ENST00000382043.4_Missense_Mutation_p.E440D|NIN_ENST00000453196.1_Missense_Mutation_p.E440D|NIN_ENST00000324330.9_Missense_Mutation_p.E440D|NIN_ENST00000245441.5_Missense_Mutation_p.E440D	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	440					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TCTGCTCTCTCTCTTTTCGGA	0.448			T	PDGFRB	MPD																																		Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	0													177	156	163					14																	51237220		2203	4300	6503	SO:0001583	missense	51199			AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"EF-hand domain containing"	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.1320G>T	14.37:g.51237220C>A	ENSP00000371472:p.Glu440Asp		A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	ENST00000382041.3	37	CCDS32079.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.891097	0.72524	.	.	ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000389868;ENST00000382043;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196	T;T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97;1.97	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.50411	0.1614	M	0.78637	2.42	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;0.996	D;D;D;D;D	0.87578	0.998;0.998;0.993;0.991;0.987	T	0.50110	-0.8866	10	0.59425	D	0.04	-18.9462	18.6203	0.91318	0.0:1.0:0.0:0.0	.	446;440;440;440;440	Q8N4C6-5;C9J066;Q8N4C6;Q5BKU3;Q8N4C6-7	.;.;NIN_HUMAN;.;.	D	440;440;440;440;446;440;440;440	ENSP00000245441:E440D;ENSP00000374518:E440D;ENSP00000371474:E440D;ENSP00000371472:E440D;ENSP00000324210:E440D;ENSP00000412391:E440D	ENSP00000245441:E440D	E	-	3	2	NIN	50306970	1.000000	0.71417	1.000000	0.80357	0.417000	0.31264	3.064000	0.49986	2.658000	0.90341	0.650000	0.86243	GAG		0.448	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		A	51237220	C	A	51237220	3	1	716	1	0	0	0	0	1	0	0	0	10419	912	32	4	5309	4	NIN	14	51237220	Missense_Mutation	SNP	C	TCGA-KM-8438-01A-11D-2310-10		51237220	56112320	59	40151											
MARK3	4140	broad.mit.edu	37	14	103941508	103941508	+	Silent	SNP	G	G	A	rs549864859		TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr14:103941508G>A	ENST00000429436.2	+	13	1953	c.1443G>A	c.(1441-1443)gcG>gcA	p.A481A	MARK3_ENST00000561071.1_Intron|MARK3_ENST00000416682.2_Silent_p.A504A|MARK3_ENST00000440884.3_Silent_p.A402A|MARK3_ENST00000303622.9_Silent_p.A481A|MARK3_ENST00000335102.5_Silent_p.A504A|MARK3_ENST00000216288.7_Silent_p.A465A|MARK3_ENST00000553942.1_Silent_p.A481A	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	481						plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			CTAATAAGGCGGATATTCCTG	0.483													G|||	1	0.000199681	0.0	0.0	5008	,	,		20146	0.001		0.0	False		,,,				2504	0.0															0													103	100	101					14																	103941508		1941	4132	6073	SO:0001819	synonymous_variant	4140			M80359	CCDS41993.1, CCDS45165.1, CCDS45166.1, CCDS45167.1, CCDS55947.1	14q32.32	2014-04-07			ENSG00000075413	ENSG00000075413			6897	protein-coding gene	gene with protein product		602678				9533022	Standard	NM_002376		Approved	CTAK1, KP78, PAR-1A	uc001ymz.4	P27448	OTTHUMG00000171789	ENST00000429436.2:c.1443G>A	14.37:g.103941508G>A			O60219|Q86TT8|Q8TB41|Q8WX83|Q96RG1|Q9UMY9|Q9UN34	Silent	SNP	ENST00000429436.2	37	CCDS45165.1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.381168	0.24944	.	.	ENSG00000075413	ENST00000554627	.	.	.	5.65	-10.3	0.00346	.	.	.	.	.	T	0.32224	0.0822	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41592	-0.9500	4	.	.	.	.	2.0884	0.03651	0.2373:0.08:0.2825:0.4002	.	.	.	.	Q	233	.	.	R	+	2	0	MARK3	103011261	0.000000	0.05858	0.826000	0.32828	0.989000	0.77384	-2.962000	0.00672	-1.547000	0.01715	-0.253000	0.11424	CGG		0.483	MARK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415144.1	NM_001128918		A	103941508	G	A	103941508	2	1	716	1	0	0	0	0	0	0	0	1	9316	1103	39	1		1	MARK3	14	103941508	Silent	SNP	G	TCGA-KM-8438-01A-11D-2310-10	52704288	103941508	3408032	60	40152											
KIF26A	26153	mdanderson.org	37	14	104643409	104643409	+	Silent	SNP	A	A	G	rs2487303	byFrequency	TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr14:104643409A>G	ENST00000423312.2	+	12	4284	c.4284A>G	c.(4282-4284)gcA>gcG	p.A1428A	KIF26A_ENST00000315264.7_Silent_p.A1289A	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1428					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)		AGGTAGAAGCAGCACACCGTC	0.706													G|||	3872	0.773163	0.826	0.7176	5008	,	,		14740	0.7827		0.7048	False		,,,				2504	0.8016															0								G		3386,734		1393,600,67	11	16	14		4284	-7.2	0	14	dbSNP_100	14	6044,2232		2231,1582,325	no	coding-synonymous	KIF26A	NM_015656.1		3624,2182,392	GG,GA,AA		26.9696,17.8155,23.9271		1428/1883	104643409	9430,2966	2060	4138	6198	SO:0001819	synonymous_variant	26153			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.4284A>G	14.37:g.104643409A>G			Q8TAZ7|Q96GK3|Q9UFL3	Silent	SNP	ENST00000423312.2	37	CCDS45171.1																																																																																				0.706	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1			G	104643409	A	G	104643409	2	3	716	1	0	0	0	0	0	0	0	1	8296	175	7	3		3	KIF26A	14	104643409	Silent	SNP	A	TCGA-KM-8438-01A-11D-2310-10	701901	104643409	2706131	61	40153											
SQRDL	58472	broad.mit.edu;hgsc.bcm.edu	37	15	45951304	45951305	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr15:45951304_45951305insA	ENST00000260324.7	+	2	569_570	c.183_184insA	c.(184-186)atgfs	p.M62fs	RP11-96O20.4_ENST00000564080.1_Frame_Shift_Ins_p.M62fs|SQRDL_ENST00000568606.1_Frame_Shift_Ins_p.M62fs	NM_021199.3	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	62					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)		TGGCTGCCCGCATGAAGAGGAA	0.609																																																0																																										SO:0001589	frameshift_variant	58472			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.184dupA	15.37:g.45951305_45951305dupA	ENSP00000260324:p.Met62fs		Q9UQM8	Frame_Shift_Ins	INS	ENST00000260324.7	37	CCDS10127.1																																																																																				0.609	SQRDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254319.2			A	45951305	-	A	45951304	7	5	716	1	0	1	1	0	0	0	0	0	15134	697	25	0	185	0	SQRDL	15	45951304	Frame_Shift_Ins	INS	-	TCGA-KM-8438-01A-11D-2310-10		45951304	56580088	62	40154	347	2									
SQRDL	58472	bcgsc.ca	37	15	45951305	45951306	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr15:45951305_45951306insA	ENST00000260324.7	+	2	570_571	c.184_185insA	c.(184-186)atgfs	p.M62fs	RP11-96O20.4_ENST00000564080.1_Frame_Shift_Ins_p.M62fs|SQRDL_ENST00000568606.1_Frame_Shift_Ins_p.M62fs	NM_021199.3	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	62					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)		GGCTGCCCGCATGAAGAGGAAA	0.609																																																0																																										SO:0001589	frameshift_variant	58472			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.184dupA	15.37:g.45951305_45951305dupA	ENSP00000260324:p.Met62fs		Q9UQM8	Frame_Shift_Ins	INS	ENST00000260324.7	37	CCDS10127.1																																																																																				0.609	SQRDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254319.2			A	45951306	-	A	45951305	7	5	716	1	0	1	1	0	0	0	0	0	15134	217	8	0	186	0	SQRDL	15	45951305	Frame_Shift_Ins	INS	-	TCGA-KM-8438-01A-11D-2310-10	1	45951305	56580087	63	40155	347	2									
DMXL2	23312	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	15	51768854	51768854	+	Missense_Mutation	SNP	C	C	A	rs200609180	byFrequency	TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr15:51768854C>A	ENST00000251076.5	-	27	7180	c.6893G>T	c.(6892-6894)cGt>cTt	p.R2298L	DMXL2_ENST00000543779.2_Missense_Mutation_p.R2299L|DMXL2_ENST00000449909.3_Missense_Mutation_p.R1662L|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2298						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)		TAGTCTTCTACGATCACTTAA	0.353																																																0													147	141	143					15																	51768854		2196	4293	6489	SO:0001583	missense	23312			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"WD repeat domain containing"	2938	protein-coding gene	gene with protein product	"rabconnectin 3"	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.6893G>T	15.37:g.51768854C>A	ENSP00000251076:p.Arg2298Leu		B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	C	32	5.127413	0.94473	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.25414	1.94;1.94;1.8	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.51805	0.1696	M	0.65975	2.015	0.80722	D	1	D;D;D;P	0.89917	1.0;0.995;0.997;0.956	D;D;D;P	0.76071	0.985;0.968;0.987;0.688	T	0.52909	-0.8512	10	0.66056	D	0.02	.	19.0467	0.93022	0.0:1.0:0.0:0.0	.	2299;1662;2298;2299	F5GWF1;B2RTR3;Q8TDJ6;B7ZMH3	.;.;DMXL2_HUMAN;.	L	2298;2299;1662	ENSP00000251076:R2298L;ENSP00000441858:R2299L;ENSP00000400855:R1662L	ENSP00000251076:R2298L	R	-	2	0	DMXL2	49556146	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	7.270000	0.78493	2.502000	0.84385	0.655000	0.94253	CGT		0.353	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		A	51768854	C	A	51768854	3	1	716	1	0	0	0	0	1	0	0	0	4597	536	19	4	2285	4	DMXL2	15	51768854	Missense_Mutation	SNP	C	TCGA-KM-8438-01A-11D-2310-10	5817549	51768854	50762538	64	40156											
CHRNB4	1143	broad.mit.edu;mdanderson.org	37	15	78921471	78921471	+	Silent	SNP	G	G	A	rs142694602		TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr15:78921471G>A	ENST00000261751.3	-	5	1287	c.1176C>T	c.(1174-1176)ccC>ccT	p.P392P	CHRNB4_ENST00000560511.1_5'Flank|RP11-335K5.2_ENST00000559120.1_RNA|CHRNB4_ENST00000412074.2_Intron	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	392					action potential (GO:0001508)|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)|regulation of neurotransmitter secretion (GO:0046928)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|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)|integral component of membrane (GO:0016021)|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)|ligand-gated ion channel activity (GO:0015276)			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22					Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)	CTGCAGAGGCGGGGTTCACAA	0.627													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16160	0.0		0.0	False		,,,				2504	0.0															0								G		3,4389	6.2+/-15.9	0,3,2193	50	52	51		1176	-7.4	0	15	dbSNP_134	51	0,8586		0,0,4293	no	coding-synonymous	CHRNB4	NM_000750.3		0,3,6486	AA,AG,GG		0.0,0.0683,0.0231		392/499	78921471	3,12975	2196	4293	6489	SO:0001819	synonymous_variant	1143			U48861	CCDS10306.1, CCDS58392.1	15q24	2012-02-11	2012-02-07		ENSG00000117971	ENSG00000117971		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1964	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, beta 4 (neuronal)"	118509	"cholinergic receptor, nicotinic, beta polypeptide 4"			2004777	Standard	NM_000750		Approved		uc002bed.1	P30926	OTTHUMG00000143860	ENST00000261751.3:c.1176C>T	15.37:g.78921471G>A			A4FTX5|E9PHE8|Q16607|Q4VBA5|Q8WXC8|Q9BQR4	Silent	SNP	ENST00000261751.3	37	CCDS10306.1																																																																																				0.627	CHRNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290108.1			A	78921471	G	A	78921471	2	1	716	1	0	0	0	0	0	0	0	1	3395	1103	39	1		1	CHRNB4	15	78921471	Silent	SNP	G	TCGA-KM-8438-01A-11D-2310-10	27152617	78921471	23609921	65	40157											
ZP2	7783	broad.mit.edu	37	16	21218242	21218242	+	Missense_Mutation	SNP	A	A	G			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr16:21218242A>G	ENST00000574002.1	-	6	882	c.400T>C	c.(400-402)Tat>Cat	p.Y134H	ZP2_ENST00000219593.4_Missense_Mutation_p.Y134H|AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000574091.1_Missense_Mutation_p.Y134H			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	134					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)		AAGAACTGATACATGACAGCT	0.488																																																0													237	199	212					16																	21218242		2199	4300	6499	SO:0001583	missense	7783			M90366	CCDS10596.1, CCDS73843.1	16p12	2014-07-04			ENSG00000103310	ENSG00000103310		"Zona pellucida glycoproteins"	13188	protein-coding gene	gene with protein product		182888				8385033	Standard	XM_005255562		Approved	ZPA	uc002dii.2	Q05996	OTTHUMG00000090681	ENST00000574002.1:c.400T>C	16.37:g.21218242A>G	ENSP00000460971:p.Tyr134His		B2R7J2|Q4VAN9|Q4VAP0|Q4VAP1	Missense_Mutation	SNP	ENST00000574002.1	37	CCDS10596.1	.	.	.	.	.	.	.	.	.	.	A	4.571	0.106025	0.08780	.	.	ENSG00000103310	ENST00000219593	T	0.29142	1.58	4.21	3.11	0.35812	.	0.000000	0.64402	D	0.000005	T	0.29588	0.0738	M	0.66378	2.025	0.09310	N	0.999997	B;B;B	0.31752	0.099;0.338;0.338	B;B;B	0.33890	0.041;0.172;0.172	T	0.22347	-1.0219	10	0.49607	T	0.09	-13.0883	6.2931	0.21071	0.8859:0.0:0.1141:0.0	.	134;134;134	B4DEV1;Q4VAP1;Q05996	.;.;ZP2_HUMAN	H	134	ENSP00000219593:Y134H	ENSP00000219593:Y134H	Y	-	1	0	ZP2	21125743	0.023000	0.18921	0.019000	0.16419	0.099000	0.18886	0.610000	0.24253	0.773000	0.33404	0.482000	0.46254	TAT		0.488	ZP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207365.2			G	21218242	A	G	21218242	3	3	716	1	0	0	0	0	1	0	0	0	18221	391	14	3	1897	3	ZP2	16	21218242	Missense_Mutation	SNP	A	TCGA-KM-8438-01A-11D-2310-10		21218242	69136511	66	40158											
DNAH9	1770	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	17	11833188	11833188	+	Silent	SNP	T	T	C			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr17:11833188T>C	ENST00000262442.4	+	63	11951	c.11883T>C	c.(11881-11883)atT>atC	p.I3961I	DNAH9_ENST00000608377.1_Silent_p.I273I|DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000454412.2_Intron	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3961	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)		ACTAGAACATTCACCTGGTGG	0.557																																																0													47	40	42					17																	11833188		2203	4299	6502	SO:0001819	synonymous_variant	1770			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.11883T>C	17.37:g.11833188T>C			A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	CCDS11160.1																																																																																				0.557	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		C	11833188	T	C	11833188	2	2	716	1	0	0	0	0	0	0	0	1	4610	1771	62	3		3	DNAH9	17	11833188	Silent	SNP	T	TCGA-KM-8438-01A-11D-2310-10		11833188	69362022	67	40159											
CDC27	996	mdanderson.org	37	17	45219669	45219669	+	Missense_Mutation	SNP	G	G	A	rs11491191		TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr17:45219669G>A	ENST00000066544.3	-	11	1397	c.1304C>T	c.(1303-1305)tCc>tTc	p.S435F	CDC27_ENST00000446365.2_Missense_Mutation_p.S374F|CDC27_ENST00000527547.1_Missense_Mutation_p.S435F|CDC27_ENST00000531206.1_Missense_Mutation_p.S441F	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	435					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						TGAAATGATGGAAGAGTCCAA	0.333																																																0													25	24	25					17																	45219669		2202	4290	6492	SO:0001583	missense	996			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.1304C>T	17.37:g.45219669G>A	ENSP00000066544:p.Ser435Phe		G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.418475	0.62622	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547	T;T;T;T	0.69435	-0.4;-0.39;-0.12;-0.4	5.45	5.45	0.79879	.	0.229124	0.46442	D	0.000286	T	0.71693	0.3370	L	0.38175	1.15	0.51233	D	0.999911	D;D;D;D	0.63880	0.993;0.988;0.989;0.991	P;P;P;P	0.58172	0.79;0.774;0.834;0.687	T	0.74241	-0.3729	10	0.66056	D	0.02	-29.963	16.7931	0.85594	0.0:0.0:1.0:0.0	rs11491191	374;435;441;435	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	F	435;441;374;435	ENSP00000066544:S435F;ENSP00000434614:S441F;ENSP00000392802:S374F;ENSP00000437339:S435F	ENSP00000066544:S435F	S	-	2	0	CDC27	42574668	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.973000	0.63763	2.568000	0.86640	0.460000	0.39030	TCC		0.333	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			A	45219669	G	A	45219669	3	1	716	1	0	0	0	0	1	0	0	0	3068	1174	41	2	1206	2	CDC27	17	45219669	Missense_Mutation	SNP	G	TCGA-KM-8438-01A-11D-2310-10	33386481	45219669	35975541	68	40160											
TMEM49	81671	broad.mit.edu	37	17	57895131	57895131	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr17:57895131delT	ENST00000262291.4	+	10	1281	c.971delT	c.(970-972)attfs	p.I324fs	VMP1_ENST00000539763.1_Frame_Shift_Del_p.I132fs|VMP1_ENST00000536180.1_Frame_Shift_Del_p.I227fs|VMP1_ENST00000537567.1_Frame_Shift_Del_p.I190fs|VMP1_ENST00000545362.1_Frame_Shift_Del_p.I268fs	NM_030938.3	NP_112200.2	Q96GC9	VMP1_HUMAN	vacuole membrane protein 1	324					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						GTGGCTTTCATTGGGTAAGTA	0.274																																																0													40	41	41					17																	57895131		2201	4287	6488	SO:0001589	frameshift_variant	81671				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.971delT	17.37:g.57895131delT	ENSP00000262291:p.Ile324fs		B4DVV9|Q9H0P4|Q9P089	Frame_Shift_Del	DEL	ENST00000262291.4	37	CCDS11619.1																																																																																				0.274	VMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448793.1	NM_030938		-	57895131	T	-	57895131	7	5	716	1	0	1	0	1	0	0	0	0	16178	1493	52	0	1005	0	TMEM49	17	57895131	Frame_Shift_Del	DEL	T	TCGA-KM-8438-01A-11D-2310-10	12675462	57895131	23300079	69	40161	348	2									
TMEM49	81671	bcgsc.ca	37	17	57895132	57895132	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr17:57895132delT	ENST00000262291.4	+	10	1282	c.972delT	c.(970-972)attfs	p.I324fs	VMP1_ENST00000539763.1_Frame_Shift_Del_p.I132fs|VMP1_ENST00000536180.1_Frame_Shift_Del_p.I227fs|VMP1_ENST00000537567.1_Frame_Shift_Del_p.I190fs|VMP1_ENST00000545362.1_Frame_Shift_Del_p.I268fs	NM_030938.3	NP_112200.2	Q96GC9	VMP1_HUMAN	vacuole membrane protein 1	324					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						TGGCTTTCATTGGGTAAGTAA	0.279																																																0													40	40	40					17																	57895132		2202	4286	6488	SO:0001589	frameshift_variant	81671				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.972delT	17.37:g.57895132delT	ENSP00000262291:p.Ile324fs		B4DVV9|Q9H0P4|Q9P089	Frame_Shift_Del	DEL	ENST00000262291.4	37	CCDS11619.1																																																																																				0.279	VMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448793.1	NM_030938		-	57895132	T	-	57895132	7	5	716	1	0	1	0	1	0	0	0	0	16178	1800	63	0	1006	0	TMEM49	17	57895132	Frame_Shift_Del	DEL	T	TCGA-KM-8438-01A-11D-2310-10	1	57895132	23300078	70	40162	348	2									
ABCA10	10349	ucsc.edu	37	17	67190540	67190540	+	Missense_Mutation	SNP	G	G	A	rs113082690|rs200155538	byFrequency	TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr17:67190540G>A	ENST00000269081.4	-	13	2240	c.1331C>T	c.(1330-1332)tCt>tTt	p.S444F	ABCA10_ENST00000416101.2_Missense_Mutation_p.S444F	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	444	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(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TGTAGAAACAGACAATCCACT	0.328																																																0													116	111	113					17																	67190540		2192	4289	6481	SO:0001583	missense	10349			AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"ATP binding cassette transporters / subfamily A"	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.1331C>T	17.37:g.67190540G>A	ENSP00000269081:p.Ser444Phe		C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	ENST00000269081.4	37	CCDS11684.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.497627	0.44455	.	.	ENSG00000154263	ENST00000269081;ENST00000416101	T;D	0.93247	1.12;-3.19	3.8	-0.228	0.13098	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.30118	U	0.010364	D	0.84915	0.5578	N	0.11845	0.185	0.24712	N	0.993191	B;B	0.30146	0.27;0.116	B;B	0.31245	0.126;0.118	T	0.66536	-0.5899	10	0.09338	T	0.73	.	18.3875	0.90471	0.0:0.741:0.259:0.0	.	444;444	E5RFN6;Q8WWZ4	.;ABCAA_HUMAN	F	444	ENSP00000269081:S444F;ENSP00000407772:S444F	ENSP00000269081:S444F	S	-	2	0	ABCA10	64702135	0.000000	0.05858	0.000000	0.03702	0.611000	0.37282	0.017000	0.13399	-0.209000	0.10156	0.557000	0.71058	TCT		0.328	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282		A	67190540	G	A	67190540	3	1	716	1	0	0	0	0	1	0	0	0	29	942	33	2	3412	2	ABCA10	17	67190540	Missense_Mutation	SNP	G	TCGA-KM-8438-01A-11D-2310-10	9295408	67190540	14004670	71	40163											
AATK	9625	broad.mit.edu	37	17	79102327	79102327	+	Silent	SNP	G	G	A	rs56384363	byFrequency	TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr17:79102327G>A	ENST00000326724.4	-	4	381	c.357C>T	c.(355-357)gaC>gaT	p.D119D	MIR338_ENST00000390137.2_RNA|AATK_ENST00000417379.1_Silent_p.D16D|AATK_ENST00000572339.1_5'UTR	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	119					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)			GCCGGCCCACGTCTGTGGACT	0.677													G|||	11	0.00219649	0.0	0.0029	5008	,	,		16832	0.0		0.0089	False		,,,				2504	0.0															0								G	,	4,3428		0,4,1712	31	39	36		357,48	3.1	1	17	dbSNP_129	36	50,6930		0,50,3440	no	coding-synonymous,coding-synonymous	AATK	NM_001080395.2,NM_004920.2	,	0,54,5152	AA,AG,GG		0.7163,0.1166,0.5186	,	119/1375,16/1272	79102327	54,10358	1716	3490	5206	SO:0001819	synonymous_variant	9625			AB014541	CCDS45807.1, CCDS58607.1	17q25.3	2014-06-12			ENSG00000181409	ENSG00000181409			21	protein-coding gene	gene with protein product	"lemur tyrosine kinase 1", "protein phosphatase 1, regulatory subunit 77"	605276				9734811, 10083745	Standard	NM_001080395		Approved	AATYK, KIAA0641, LMTK1, LMR1, AATYK1, PPP1R77	uc010dia.3	Q6ZMQ8	OTTHUMG00000132717	ENST00000326724.4:c.357C>T	17.37:g.79102327G>A			O75136|Q6ZN31|Q86X28	Silent	SNP	ENST00000326724.4	37	CCDS45807.1	7	0.003205128205128205	0	0.0	1	0.0027624309392265192	0	0.0	6	0.0079155672823219	G	9.994	1.231624	0.22626	0.001166	0.007163	ENSG00000181409	ENST00000417379	.	.	.	4.09	3.1	0.35709	.	.	.	.	.	T	0.46870	0.1415	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42531	-0.9446	4	.	.	.	.	6.4447	0.21869	0.0983:0.0:0.724:0.1777	rs56384363	.	.	.	M	72	.	.	T	-	2	0	AATK	76716922	0.997000	0.39634	0.999000	0.59377	0.905000	0.53344	0.360000	0.20250	0.696000	0.31696	0.467000	0.42956	ACG		0.677	AATK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256055.1	NM_004920		A	79102327	G	A	79102327	2	1	716	1	0	0	0	0	0	0	0	1	26	1136	40	1		1	AATK	17	79102327	Silent	SNP	G	TCGA-KM-8438-01A-11D-2310-10	11911787	79102327	2092883	72	40164											
NFATC1	4772	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	18	77208855	77208855	+	Missense_Mutation	SNP	G	G	A	rs139150912		TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr18:77208855G>A	ENST00000427363.2	+	4	1460	c.1460G>A	c.(1459-1461)cGc>cAc	p.R487H	NFATC1_ENST00000318065.5_Missense_Mutation_p.R474H|NFATC1_ENST00000586434.1_Missense_Mutation_p.R474H|NFATC1_ENST00000592223.1_Missense_Mutation_p.R474H|NFATC1_ENST00000397790.2_Missense_Mutation_p.R15H|NFATC1_ENST00000587635.1_Missense_Mutation_p.R487H|NFATC1_ENST00000542384.1_Missense_Mutation_p.R487H|NFATC1_ENST00000591814.1_Missense_Mutation_p.R487H|NFATC1_ENST00000329101.4_Missense_Mutation_p.R474H|NFATC1_ENST00000545796.1_Missense_Mutation_p.R15H|NFATC1_ENST00000253506.5_Missense_Mutation_p.R487H			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	487	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				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)	CGCCTGCTGCGCCCGCACGCC	0.602																																					GBM(151;1210 2593 28719 45011)											0								G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	81	72	75		1460,1421,44,1421,1460	4.3	1	18	dbSNP_134	75	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	NFATC1	NM_006162.3,NM_172387.1,NM_172388.1,NM_172389.1,NM_172390.1	29,29,29,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	487/826,474/931,15/354,474/813,487/717	77208855	1,13005	2203	4300	6503	SO:0001583	missense	4772			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.1460G>A	18.37:g.77208855G>A	ENSP00000389377:p.Arg487His		B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Missense_Mutation	SNP	ENST00000427363.2	37		.	.	.	.	.	.	.	.	.	.	G	22.1	4.244410	0.79912	2.27E-4	0.0	ENSG00000131196	ENST00000318065;ENST00000253506;ENST00000397790;ENST00000542384;ENST00000329101;ENST00000545796;ENST00000427363;ENST00000397794	T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75	4.31	4.31	0.51392	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.67951	0.2948	M	0.72479	2.2	0.48185	D	0.9996	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	0.79784	0.983;0.983;0.983;0.992;0.992;0.993;0.983	T	0.73458	-0.3976	10	0.87932	D	0	-25.1669	16.9798	0.86324	0.0:0.0:1.0:0.0	.	474;474;487;487;487;474;487	B5B2M7;B5B2N1;B5B2M6;O95644;B5B2M4;B5B2M5;Q2M1S3	.;.;.;NFAC1_HUMAN;.;.;.	H	487;487;15;487;474;15;474;451	ENSP00000253506:R487H;ENSP00000380892:R15H;ENSP00000442435:R487H;ENSP00000327850:R474H;ENSP00000439992:R15H	ENSP00000253506:R487H	R	+	2	0	NFATC1	75309843	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	4.991000	0.63883	2.230000	0.72887	0.561000	0.74099	CGC		0.602	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	NM_172390		A	77208855	G	A	77208855	3	1	716	1	0	0	0	0	1	0	0	0	10363	1087	38	1	1566	1	NFATC1	18	77208855	Missense_Mutation	SNP	G	TCGA-KM-8438-01A-11D-2310-10		77208855	868393	73	40165											
SLC39A3	29985	mdanderson.org	37	19	2732986	2732986	+	Silent	SNP	T	T	C	rs759073	byFrequency	TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr19:2732986T>C	ENST00000269740.4	-	3	1037	c.708A>G	c.(706-708)gtA>gtG	p.V236V	SLC39A3_ENST00000545664.1_Silent_p.V236V|AC006538.4_ENST00000586572.1_Intron	NM_144564.4	NP_653165.2	Q9BRY0	S39A3_HUMAN	solute carrier family 39 (zinc transporter), member 3	236					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCATGGCGCTTACGGTGACCG	0.736													C|||	3132	0.625399	0.907	0.3905	5008	,	,		14002	0.6468		0.4414	False		,,,				2504	0.5787															0								C		3669,719		1542,585,67	19	22	21		708	2.4	1	19	dbSNP_86	21	3873,4701		921,2031,1335	no	coding-synonymous	SLC39A3	NM_144564.4		2463,2616,1402	CC,CT,TT		45.1714,16.3856,41.8145		236/315	2732986	7542,5420	2194	4287	6481	SO:0001819	synonymous_variant	29985			AF052125	CCDS12093.1, CCDS45909.1	19p13.3	2013-05-22			ENSG00000141873	ENSG00000141873		"Solute carriers"	17128	protein-coding gene	gene with protein product		612168				10681536	Standard	NM_144564		Approved	ZIP3	uc002lwg.3	Q9BRY0		ENST00000269740.4:c.708A>G	19.37:g.2732986T>C			B3KMJ3|Q8WUG1	Silent	SNP	ENST00000269740.4	37	CCDS12093.1																																																																																				0.736	SLC39A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451354.2			C	2732986	T	C	2732986	2	2	716	1	0	0	0	0	0	0	0	1	14625	1741	61	3		3	SLC39A3	19	2732986	Silent	SNP	T	TCGA-KM-8438-01A-11D-2310-10		2732986	56395997	74	40166											
ZNRF4	148066	mdanderson.org	37	19	5455976	5455976	+	Silent	SNP	C	C	T	rs386806230|rs61740902	byFrequency	TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr19:5455976C>T	ENST00000222033.4	+	1	551	c.474C>T	c.(472-474)atC>atT	p.I158I		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	158	PA.			AIV -> SIA (in Ref. 4; AAH17592). {ECO:0000305}.		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)		TGGGCGCCATCGTGCTGATCC	0.682													C|||	596	0.11901	0.0477	0.1729	5008	,	,		15731	0.004		0.2296	False		,,,				2504	0.182															0								C		259,3999		8,243,1878	28	31	30		474	-9.3	0	19	dbSNP_129	30	1616,6844		228,1160,2842	no	coding-synonymous	ZNRF4	NM_181710.3		236,1403,4720	TT,TC,CC		19.1017,6.0827,14.7429		158/430	5455976	1875,10843	2129	4230	6359	SO:0001819	synonymous_variant	148066			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.474C>T	19.37:g.5455976C>T			A8K886|O75866	Silent	SNP	ENST00000222033.4	37	CCDS42475.1																																																																																				0.682	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450924.1	NM_181710		T	5455976	C	T	5455976	2	4	716	1	0	0	0	0	0	0	0	1	18219	874	31	1		1	ZNRF4	19	5455976	Silent	SNP	C	TCGA-KM-8438-01A-11D-2310-10	2722990	5455976	53673007	75	40167											
MUC16	94025	mdanderson.org	37	19	8999443	8999443	+	Missense_Mutation	SNP	T	T	C			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr19:8999443T>C	ENST00000397910.4	-	56	40935	c.40732A>G	c.(40732-40734)Atc>Gtc	p.I13578V	MUC16_ENST00000380951.5_Missense_Mutation_p.I219V	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13580	SEA 10. {ECO:0000255|PROSITE- ProRule:PRU00188}.			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						AGCTCAGTGATGCTGTGGGTC	0.572																																																0													231	194	206					19																	8999443		2060	4204	6264	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.40732A>G	19.37:g.8999443T>C	ENSP00000381008:p.Ile13578Val		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	0.060	-1.225501	0.01530	.	.	ENSG00000181143	ENST00000397910;ENST00000380951	T;T	0.35236	1.32;1.32	2.95	-5.02	0.02982	SEA (2);	.	.	.	.	T	0.27900	0.0687	N	0.21508	0.67	.	.	.	B;B	0.28933	0.018;0.228	B;P	0.44561	0.008;0.453	T	0.52064	-0.8625	8	0.18276	T	0.48	.	8.2204	0.31539	0.0:0.3117:0.0:0.6883	.	21223;13578	Q8WXI7;B5ME49	MUC16_HUMAN;.	V	13578;219	ENSP00000381008:I13578V;ENSP00000370338:I219V	ENSP00000370338:I219V	I	-	1	0	MUC16	8860443	0.000000	0.05858	0.001000	0.08648	0.020000	0.10135	-2.491000	0.00974	-0.945000	0.03681	0.454000	0.30748	ATC		0.572	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		C	8999443	T	C	8999443	3	2	716	1	0	0	0	0	1	0	0	0	9975	1464	51	3	2907	3	MUC16	19	8999443	Missense_Mutation	SNP	T	TCGA-KM-8438-01A-11D-2310-10	3543467	8999443	50129540	76	40168											
RFX1	5989	mdanderson.org	37	19	14083761	14083761	+	Missense_Mutation	SNP	T	T	C	rs2305780	byFrequency	TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr19:14083761T>C	ENST00000254325.4	-	9	1342	c.1108A>G	c.(1108-1110)Acc>Gcc	p.T370A		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	370			T -> A (in dbSNP:rs2305780). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:2253877}.		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)			CCAGTGCTGGTGGAGCTGGCG	0.741													T|||	2661	0.53135	0.7496	0.5	5008	,	,		10294	0.4454		0.4742	False		,,,				2504	0.4059															0								T	ALA/THR	3076,1206		1147,782,212	13	14	14		1108	-2.8	0.2	19	dbSNP_100	14	3917,4527		951,2015,1256	yes	missense	RFX1	NM_002918.4	58	2098,2797,1468	CC,CT,TT		46.388,28.1644,45.0495	benign	370/980	14083761	6993,5733	2141	4222	6363	SO:0001583	missense	5989				CCDS12301.1	19p13.1	2008-07-17				ENSG00000132005			9982	protein-coding gene	gene with protein product	"trans-acting regulatory factor 1", "enhancer factor C", "MHC class II regulatory factor RFX"	600006				1505960, 8289803	Standard	NM_002918		Approved	EF-C	uc002mxv.3	P22670		ENST00000254325.4:c.1108A>G	19.37:g.14083761T>C	ENSP00000254325:p.Thr370Ala			Missense_Mutation	SNP	ENST00000254325.4	37	CCDS12301.1	1139	0.5215201465201466	351	0.7134146341463414	190	0.5248618784530387	248	0.43356643356643354	350	0.46174142480211083	T	9.229	1.035327	0.19590	0.718356	0.46388	ENSG00000132005	ENST00000254325	T	0.39997	1.05	4.02	-2.85	0.05734	RFX1 transcription activation region (1);	0.529736	0.19468	N	0.113536	T	0.00012	0.0000	N	0.22421	0.69	0.80722	P	0.0	B	0.16396	0.017	B	0.22152	0.038	T	0.41538	-0.9503	9	0.08837	T	0.75	-17.3917	0.6272	0.00788	0.2668:0.1627:0.1302:0.4403	rs2305780;rs17854587;rs60197642	370	P22670	RFX1_HUMAN	A	370	ENSP00000254325:T370A	ENSP00000254325:T370A	T	-	1	0	RFX1	13944761	0.996000	0.38824	0.227000	0.23927	0.383000	0.30230	0.368000	0.20399	-0.867000	0.04063	-0.441000	0.05720	ACC		0.741	RFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458510.1	NM_002918		C	14083761	T	C	14083761	3	2	716	1	0	0	0	0	1	0	0	0	13268	1696	59	3	1883	3	RFX1	19	14083761	Missense_Mutation	SNP	T	TCGA-KM-8438-01A-11D-2310-10	5084318	14083761	45045222	77	40169											
NOTCH3	4854	mdanderson.org	37	19	15285052	15285052	+	Silent	SNP	T	T	C	rs1044006	byFrequency	TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr19:15285052T>C	ENST00000263388.2	-	25	4638	c.4563A>G	c.(4561-4563)ccA>ccG	p.P1521P		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1521					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)			GTAGCTCCTCTGGCGGCAGCA	0.706													C|||	4366	0.871805	0.9879	0.7637	5008	,	,		14411	0.8006		0.8817	False		,,,				2504	0.8548															0								C		4249,97		2076,97,0	11	14	13		4563	-9.2	0.8	19	dbSNP_86	13	7663,853		3451,761,46	no	coding-synonymous	NOTCH3	NM_000435.2		5527,858,46	CC,CT,TT		10.0164,2.2319,7.3861		1521/2322	15285052	11912,950	2173	4258	6431	SO:0001819	synonymous_variant	4854			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"Ankyrin repeat domain containing"	7883	protein-coding gene	gene with protein product		600276	"Notch (Drosophila) homolog 3", "Notch homolog 3 (Drosophila)"	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.4563A>G	19.37:g.15285052T>C			Q9UEB3|Q9UPL3|Q9Y6L8	Silent	SNP	ENST00000263388.2	37	CCDS12326.1																																																																																				0.706	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		C	15285052	T	C	15285052	2	2	716	1	0	0	0	0	0	0	0	1	10552	1567	55	3		3	NOTCH3	19	15285052	Silent	SNP	T	TCGA-KM-8438-01A-11D-2310-10	1201291	15285052	43843931	78	40170											
OR10H2	26538	mdanderson.org	37	19	15839311	15839311	+	Missense_Mutation	SNP	C	C	T	rs139469467		TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr19:15839311C>T	ENST00000305899.3	+	1	478	c.458C>T	c.(457-459)tCg>tTg	p.S153L		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, 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(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)					GCTGGTGGCTCGGTCATGGGG	0.592																																																0													91	75	81					19																	15839311		2203	4300	6503	SO:0001583	missense	26538			AC004597	CCDS12333.1	19p13.1	2012-08-09				ENSG00000171942		"GPCR / Class A : Olfactory receptors"	8173	protein-coding gene	gene with protein product							Standard	NM_013939		Approved		uc002nbm.2	O60403		ENST00000305899.3:c.458C>T	19.37:g.15839311C>T	ENSP00000306095:p.Ser153Leu		Q6IFQ1|Q96R58	Missense_Mutation	SNP	ENST00000305899.3	37	CCDS12333.1	.	.	.	.	.	.	.	.	.	.	.	0.360	-0.939686	0.02322	.	.	ENSG00000171942	ENST00000305899	T	0.00019	9.06	3.4	-2.39	0.06602	GPCR, rhodopsin-like superfamily (1);	1.096810	0.07137	N	0.846687	T	0.00039	0.0001	N	0.02973	-0.45	0.09310	N	1	B	0.12630	0.006	B	0.19946	0.027	T	0.00510	-1.1697	10	0.10902	T	0.67	.	6.8361	0.23937	0.0:0.2906:0.0:0.7094	.	153	O60403	O10H2_HUMAN	L	153	ENSP00000306095:S153L	ENSP00000306095:S153L	S	+	2	0	OR10H2	15700311	0.000000	0.05858	0.002000	0.10522	0.174000	0.22865	-0.238000	0.08977	-0.296000	0.08947	0.537000	0.68136	TCG		0.592	OR10H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460917.1			T	15839311	C	T	15839311	3	4	716	1	0	0	0	0	1	0	0	0	10908	893	31	1	460	1	OR10H2	19	15839311	Missense_Mutation	SNP	C	TCGA-KM-8438-01A-11D-2310-10	554259	15839311	43289672	79	40171											
FCGBP	8857	mdanderson.org	37	19	40368733	40368733	+	Silent	SNP	G	G	C			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr19:40368733G>C	ENST00000221347.6	-	28	12622	c.12615C>G	c.(12613-12615)ctC>ctG	p.L4205L		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4205	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)			AGCTGCTGGGGAGCGTCACGT	0.597																																																0													292	295	294					19																	40368733		2203	4300	6503	SO:0001819	synonymous_variant	8857			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.12615C>G	19.37:g.40368733G>C			O95784	Silent	SNP	ENST00000221347.6	37	CCDS12546.1																																																																																				0.597	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		C	40368733	G	C	40368733	2	2	716	1	0	0	0	0	0	0	0	1	5780	1161	41	4		4	FCGBP	19	40368733	Silent	SNP	G	TCGA-KM-8438-01A-11D-2310-10	24529422	40368733	18760250	80	40172											
LMTK3	114783	ucsc.edu	37	19	48994716	48994716	+	Silent	SNP	T	T	G			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr19:48994716T>G	ENST00000600059.1	-	13	4400	c.4173A>C	c.(4171-4173)acA>acC	p.T1391T	LMTK3_ENST00000270238.3_Silent_p.T1420T			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	1391	Pro-rich.				negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GGTGGGGAGGTGTCGGGGGCG	0.711																																																0													3	4	3					19																	48994716		1503	3609	5112	SO:0001819	synonymous_variant	114783			AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 101"						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.4173A>C	19.37:g.48994716T>G			Q4G0U1	Silent	SNP	ENST00000600059.1	37																																																																																					0.711	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000466137.1	NM_052895		G	48994716	T	G	48994716	2	3	716	1	0	0	0	0	0	0	0	1	8862	1683	59	5		5	LMTK3	19	48994716	Silent	SNP	T	TCGA-KM-8438-01A-11D-2310-10	8625983	48994716	10134267	81	40173											
LILRB5	10990	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	19	54756385	54756385	+	Missense_Mutation	SNP	G	G	A			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr19:54756385G>A	ENST00000316219.5	-	10	1606	c.1499C>T	c.(1498-1500)gCg>gTg	p.A500V	LILRB5_ENST00000449561.2_Missense_Mutation_p.A501V|LILRB5_ENST00000450632.1_Missense_Mutation_p.A492V|LILRB5_ENST00000345866.6_Missense_Mutation_p.A401V|CTD-2337J16.1_ENST00000595133.1_lincRNA	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	500					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)		CTCTGGCCCCGCAGCCCCTGC	0.617																																																0													91	88	89					19																	54756385		2203	4300	6503	SO:0001583	missense	10990			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.1499C>T	19.37:g.54756385G>A	ENSP00000320390:p.Ala500Val		Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	G	0.094	-1.161755	0.01673	.	.	ENSG00000105609	ENST00000316219;ENST00000450632;ENST00000449561;ENST00000345866	T;T;T;T	0.00485	7.12;7.07;7.11;7.13	1.91	-0.491	0.12045	.	.	.	.	.	T	0.00241	0.0007	N	0.25890	0.77	0.09310	N	1	B;B;B;B	0.32862	0.349;0.172;0.055;0.387	B;B;B;B	0.24541	0.022;0.054;0.027;0.037	T	0.22695	-1.0209	9	0.14656	T	0.56	.	4.6532	0.12605	0.3582:0.0:0.6418:0.0	.	492;401;501;500	C9JMK7;O75023-2;O75023-3;O75023	.;.;.;LIRB5_HUMAN	V	500;492;501;401	ENSP00000320390:A500V;ENSP00000414225:A492V;ENSP00000406478:A501V;ENSP00000263430:A401V	ENSP00000320390:A500V	A	-	2	0	LILRB5	59448197	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.285000	0.08410	-0.045000	0.13468	-0.459000	0.05422	GCG		0.617	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			A	54756385	G	A	54756385	3	1	716	1	0	0	0	0	1	0	0	0	8796	1087	38	1	289	1	LILRB5	19	54756385	Missense_Mutation	SNP	G	TCGA-KM-8438-01A-11D-2310-10	5761669	54756385	4372598	82	40174											
TGM6	343641	bcgsc.ca	37	20	2384095	2384095	+	Missense_Mutation	SNP	T	T	C			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr20:2384095T>C	ENST00000202625.2	+	8	1103	c.1042T>C	c.(1042-1044)Tct>Cct	p.S348P	TGM6_ENST00000381423.1_Missense_Mutation_p.S348P	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	348					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)	CCTAGGCCCCTCTTACAATGG	0.567																																																0													56	53	54					20																	2384095		2203	4300	6503	SO:0001583	missense	343641			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.1042T>C	20.37:g.2384095T>C	ENSP00000202625:p.Ser348Pro		Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Missense_Mutation	SNP	ENST00000202625.2	37	CCDS13025.1	.	.	.	.	.	.	.	.	.	.	T	18.38	3.610753	0.66558	.	.	ENSG00000166948	ENST00000202625;ENST00000381423	D;D	0.87412	-2.25;-2.25	4.9	-0.758	0.11049	Transglutaminase-like (2);	0.663319	0.16355	N	0.218045	D	0.84871	0.5568	M	0.66939	2.045	0.25024	N	0.991311	P;P	0.48911	0.797;0.917	P;P	0.45712	0.491;0.48	T	0.77308	-0.2636	10	0.59425	D	0.04	-1.3682	8.462	0.32934	0.1442:0.0:0.5177:0.3382	.	348;348	O95932-2;O95932	.;TGM3L_HUMAN	P	348	ENSP00000202625:S348P;ENSP00000370831:S348P	ENSP00000202625:S348P	S	+	1	0	TGM6	2332095	0.000000	0.05858	0.931000	0.37212	0.970000	0.65996	0.078000	0.14761	-0.220000	0.09988	0.449000	0.29647	TCT		0.567	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994		C	2384095	T	C	2384095	3	2	716	1	0	0	0	0	1	0	0	0	15839	1551	54	3	1072	3	TGM6	20	2384095	Missense_Mutation	SNP	T	TCGA-KM-8438-01A-11D-2310-10		2384095	60641425	83	40175											
XKR7	343702	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	20	30584474	30584474	+	Silent	SNP	G	G	A	rs375135448		TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr20:30584474G>A	ENST00000562532.2	+	3	1128	c.954G>A	c.(952-954)gcG>gcA	p.A318A		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	318						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)			TGGCCTTCGCGCTCTTCGCCA	0.632																																																0										1,4405	2.1+/-5.4	0,1,2202	72	70	70		954	-2.9	1	20		70	0,8600		0,0,4300	no	coding-synonymous	XKR7	NM_001011718.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		318/580	30584474	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	343702			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.954G>A	20.37:g.30584474G>A			Q9NUG5	Silent	SNP	ENST00000562532.2	37	CCDS33459.1																																																																																				0.632	XKR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078597.3	NM_001011718		A	30584474	G	A	30584474	2	1	716	1	0	0	0	0	0	0	0	1	17441	1074	38	1		1	XKR7	20	30584474	Silent	SNP	G	TCGA-KM-8438-01A-11D-2310-10	28200379	30584474	32441046	84	40176											
NNAT	4826	broad.mit.edu	37	20	36149782	36149782	+	Missense_Mutation	SNP	T	T	C			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr20:36149782T>C	ENST00000062104.2	+	1	166	c.49T>C	c.(49-51)Tac>Cac	p.Y17H	BLCAP_ENST00000397134.1_5'Flank|BLCAP_ENST00000397137.1_Intron|BLCAP_ENST00000414542.2_5'UTR|BLCAP_ENST00000373537.2_Intron|BLCAP_ENST00000397135.1_Intron|BLCAP_ENST00000397131.1_Intron|NNAT_ENST00000346199.2_Missense_Mutation_p.Y17H	NM_005386.2	NP_005377.1	Q16517	NNAT_HUMAN	neuronatin	17					brain development (GO:0007420)|neuron differentiation (GO:0030182)|positive regulation of insulin secretion (GO:0032024)|protein lipoylation (GO:0009249)|regulation of protein localization (GO:0032880)|response to glucose (GO:0009749)|transport (GO:0006810)	cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|lung(1)	3		Myeloproliferative disorder(115;0.00878)				CATCGGCTGGTACATCTTCCG	0.617																																																0													140	140	140					20																	36149782		2203	4300	6503	SO:0001583	missense	4826				CCDS13296.1, CCDS13297.1	20q11.2-q12	2007-12-07			ENSG00000053438	ENSG00000053438			7860	protein-coding gene	gene with protein product		603106				8660979	Standard	NM_005386		Approved	Peg5	uc002xhd.3	Q16517	OTTHUMG00000032420	ENST00000062104.2:c.49T>C	20.37:g.36149782T>C	ENSP00000062104:p.Tyr17His		B2R558|E1P5V6|Q16596|Q5U0N3	Missense_Mutation	SNP	ENST00000062104.2	37	CCDS13296.1	.	.	.	.	.	.	.	.	.	.	T	18.07	3.542446	0.65198	.	.	ENSG00000053438	ENST00000062104;ENST00000346199	.	.	.	4.35	4.35	0.52113	.	0.000000	0.41823	D	0.000817	T	0.66761	0.2822	.	.	.	0.31677	N	0.643627	D;P	0.62365	0.991;0.89	D;P	0.65323	0.934;0.607	T	0.73014	-0.4116	8	0.87932	D	0	-7.5239	10.2286	0.43241	0.0:0.0:0.0:1.0	.	17;17	Q16517-2;Q16517	.;NNAT_HUMAN	H	17	.	ENSP00000062104:Y17H	Y	+	1	0	NNAT	35583196	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.088000	0.50175	2.197000	0.70478	0.533000	0.62120	TAC		0.617	NNAT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079116.2	NM_005386		C	36149782	T	C	36149782	3	2	716	1	0	0	0	0	1	0	0	0	10510	1638	57	3	51	3	NNAT	20	36149782	Missense_Mutation	SNP	T	TCGA-KM-8438-01A-11D-2310-10	5565308	36149782	26875738	85	40177											
RALGAPB	57148	broad.mit.edu	37	20	37126161	37126161	+	Splice_Site	SNP	T	T	C			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr20:37126161T>C	ENST00000262879.6	+	4	837		c.e4+2		RALGAPB_ENST00000397042.3_Splice_Site|RALGAPB_ENST00000397038.1_Splice_Site|RALGAPB_ENST00000397040.1_Splice_Site|RALGAPB_ENST00000537204.1_Splice_Site			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)						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						CTGTTCAAGGTTTGTTTATTT	0.393																																																0													101	99	99					20																	37126161		2203	4300	6503	SO:0001630	splice_region_variant	57148			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.553+2T>C	20.37:g.37126161T>C			A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Splice_Site	SNP	ENST00000262879.6	37	CCDS13305.1	.	.	.	.	.	.	.	.	.	.	T	19.52	3.843339	0.71488	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000304939;ENST00000537204;ENST00000397040;ENST00000438490	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.319	0.74105	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	RALGAPB	36559575	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	7.472000	0.80996	2.004000	0.58718	0.528000	0.53228	.		0.393	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336	Intron	C	37126161	T	C	37126161	5	2	716	1	0	0	0	0	0	0	1	0	13021	1739	60	3	565	3	RALGAPB	20	37126161	Splice_Site	SNP	T	TCGA-KM-8438-01A-11D-2310-10	976379	37126161	25899359	86	40178											
RBM11	54033	mdanderson.org	37	21	15599340	15599340	+	Missense_Mutation	SNP	A	A	G			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr21:15599340A>G	ENST00000400577.3	+	5	581	c.572A>G	c.(571-573)cAc>cGc	p.H191R	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11	191					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|mRNA processing (GO:0006397)|multicellular organismal development (GO:0007275)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(U) RNA binding (GO:0008266)|protein homodimerization activity (GO:0042803)			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		AAATGGACTCACCAACAACCA	0.453																																																0													271	258	263					21																	15599340		1964	4154	6118	SO:0001583	missense	54033			AF130358	CCDS46635.1	21q11	2013-02-12			ENSG00000185272	ENSG00000185272		"RNA binding motif (RRM) containing"	9897	protein-coding gene	gene with protein product						12036298	Standard	NM_144770		Approved		uc002yjo.4	P57052	OTTHUMG00000074263	ENST00000400577.3:c.572A>G	21.37:g.15599340A>G	ENSP00000383421:p.His191Arg		Q6YNC2|Q8NBA1|Q8NFF6	Missense_Mutation	SNP	ENST00000400577.3	37	CCDS46635.1	.	.	.	.	.	.	.	.	.	.	A	1.477	-0.558202	0.03967	.	.	ENSG00000185272	ENST00000400577	T	0.07216	3.21	1.87	0.568	0.17333	.	1.040610	0.07512	N	0.908963	T	0.03305	0.0096	N	0.08118	0	0.20307	N	0.999915	B	0.16166	0.016	B	0.04013	0.001	T	0.46775	-0.9167	10	0.17832	T	0.49	.	0.217	0.00163	0.3713:0.2386:0.1563:0.2338	.	191	P57052	RBM11_HUMAN	R	191	ENSP00000383421:H191R	ENSP00000383421:H191R	H	+	2	0	RBM11	14521211	0.764000	0.28473	0.756000	0.31282	0.615000	0.37417	0.317000	0.19487	0.130000	0.18549	0.164000	0.16699	CAC		0.453	RBM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157818.1	NM_144770		G	15599340	A	G	15599340	3	3	716	1	0	0	0	0	1	0	0	0	13118	159	6	3	590	3	RBM11	21	15599340	Missense_Mutation	SNP	A	TCGA-KM-8438-01A-11D-2310-10		15599340	32530555	87	40179											
KRTAP10-2	386679	mdanderson.org	37	21	45971109	45971109	+	Missense_Mutation	SNP	G	G	A	rs200984587	byFrequency	TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr21:45971109G>A	ENST00000391621.1	-	1	279	c.233C>T	c.(232-234)tCg>tTg	p.S78L	KRTAP10-2_ENST00000498210.1_Intron|TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	78	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				large_intestine(1)|lung(4)|skin(1)	6						CTGGCAGCACGAGGGCGTGCA	0.687																																																0																																										SO:0001583	missense	386679			AJ566381	CCDS42955.1	21q22.3	2007-10-05			ENSG00000205445	ENSG00000205445		"Keratin associated proteins"	22967	protein-coding gene	gene with protein product				KRTAP18-2			Standard	NM_198693		Approved	KAP10.2, KAP18.2	uc002zfi.1	P60368	OTTHUMG00000057625	ENST00000391621.1:c.233C>T	21.37:g.45971109G>A	ENSP00000375479:p.Ser78Leu		Q70LJ5	Missense_Mutation	SNP	ENST00000391621.1	37	CCDS42955.1	.	.	.	.	.	.	.	.	.	.	g	5.987	0.366047	0.11352	.	.	ENSG00000205445	ENST00000391621	T	0.01572	4.76	3.44	1.48	0.22813	.	.	.	.	.	T	0.03305	0.0096	M	0.87682	2.9	0.09310	N	1	B	0.22683	0.073	B	0.16289	0.015	T	0.40384	-0.9566	9	0.51188	T	0.08	.	2.1189	0.03721	0.1176:0.1948:0.4883:0.1993	.	78	P60368	KR102_HUMAN	L	78	ENSP00000375479:S78L	ENSP00000375479:S78L	S	-	2	0	KRTAP10-2	44795537	0.060000	0.20803	0.001000	0.08648	0.073000	0.16967	1.997000	0.40786	0.133000	0.18654	0.456000	0.33151	TCG		0.687	KRTAP10-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128027.1			A	45971109	G	A	45971109	3	1	716	1	0	0	0	0	1	0	0	0	8511	1059	37	1	538	1	KRTAP10-2	21	45971109	Missense_Mutation	SNP	G	TCGA-KM-8438-01A-11D-2310-10	30371769	45971109	2158786	88	40180											
SUSD2	56241	mdanderson.org	37	22	24579219	24579219	+	Missense_Mutation	SNP	G	G	A	rs399140		TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr22:24579219G>A	ENST00000358321.3	+	2	532	c.271G>A	c.(271-273)Gcc>Acc	p.A91T		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	91					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)	p.A91T(1)		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						CCCCACAGACGCCAGTGTGAT	0.627																																																1	Substitution - Missense(1)	skin(1)											38	38	38					22																	24579219		2202	4276	6478	SO:0001583	missense	56241			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.271G>A	22.37:g.24579219G>A	ENSP00000351075:p.Ala91Thr		Q9H5Y6	Missense_Mutation	SNP	ENST00000358321.3	37	CCDS13824.1	.	.	.	.	.	.	.	.	.	.	G	2.736	-0.263316	0.05754	.	.	ENSG00000099994	ENST00000358321	T	0.05649	3.41	3.33	-1.69	0.08186	.	1.453820	0.04535	N	0.386942	T	0.03095	0.0091	N	0.08118	0	0.09310	N	1	B	0.25772	0.134	B	0.09377	0.004	T	0.43327	-0.9398	10	0.12766	T	0.61	.	7.7082	0.28663	0.5771:0.0:0.4229:0.0	rs399140;rs4398360	91	Q9UGT4	SUSD2_HUMAN	T	91	ENSP00000351075:A91T	ENSP00000351075:A91T	A	+	1	0	SUSD2	22909219	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-0.783000	0.04638	-0.189000	0.10482	-0.418000	0.06021	GCC		0.627	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320088.1	NM_019601		A	24579219	G	A	24579219	3	1	716	1	0	0	0	0	1	0	0	0	15413	1087	38	1	277	1	SUSD2	22	24579219	Missense_Mutation	SNP	G	TCGA-KM-8438-01A-11D-2310-10		24579219	26725347	89	40181											
PMM1	5372	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	22	41973907	41973907	+	Missense_Mutation	SNP	C	C	T			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr22:41973907C>T	ENST00000216259.7	-	7	655	c.571G>A	c.(571-573)Gtc>Atc	p.V191I		NM_002676.2	NP_002667.2	Q92871	PMM1_HUMAN	phosphomannomutase 1	191					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|mannose biosynthetic process (GO:0019307)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	metal ion binding (GO:0046872)|phosphomannomutase activity (GO:0004615)			NS(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(2)	11						TCGGGGAAGACGTCAAAGCTG	0.572																																																0													114	87	96					22																	41973907		2203	4300	6503	SO:0001583	missense	5372				CCDS14020.1	22q13	2008-12-01			ENSG00000100417	ENSG00000100417	5.4.2.8		9114	protein-coding gene	gene with protein product	"brain glucose-1,6-bisphosphatase"	601786				9070917, 9271215	Standard	NM_002676		Approved	Sec53	uc003bal.2	Q92871	OTTHUMG00000150972	ENST00000216259.7:c.571G>A	22.37:g.41973907C>T	ENSP00000216259:p.Val191Ile		A8K003|Q92586	Missense_Mutation	SNP	ENST00000216259.7	37	CCDS14020.1	.	.	.	.	.	.	.	.	.	.	C	11.75	1.732968	0.30684	.	.	ENSG00000100417	ENST00000216259	D	0.99023	-5.34	5.24	4.22	0.49857	HAD-like domain (2);	0.196740	0.46145	N	0.000313	D	0.97558	0.9200	M	0.70108	2.13	0.48632	D	0.999684	B	0.10296	0.003	B	0.10450	0.005	D	0.96235	0.9171	10	0.27785	T	0.31	-27.3831	10.0097	0.41979	0.0:0.8453:0.0:0.1547	.	191	Q92871	PMM1_HUMAN	I	191	ENSP00000216259:V191I	ENSP00000216259:V191I	V	-	1	0	PMM1	40303853	0.852000	0.29690	0.787000	0.31911	0.045000	0.14185	1.391000	0.34475	1.205000	0.43262	0.555000	0.69702	GTC		0.572	PMM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320711.3	NM_002676		T	41973907	C	T	41973907	3	4	716	1	0	0	0	0	1	0	0	0	12138	536	19	1	225	1	PMM1	22	41973907	Missense_Mutation	SNP	C	TCGA-KM-8438-01A-11D-2310-10	17394688	41973907	9330659	90	40182											
TLR7	51284	broad.mit.edu;mdanderson.org;bcgsc.ca	37	X	12904430	12904430	+	Missense_Mutation	SNP	T	T	C			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chrX:12904430T>C	ENST00000380659.3	+	3	942	c.803T>C	c.(802-804)tTt>tCt	p.F268S		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	268					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)	AATGCCCCATTTCCTTGTGCG	0.368																																																0													109	102	104					X																	12904430		2203	4300	6503	SO:0001583	missense	51284			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.803T>C	X.37:g.12904430T>C	ENSP00000370034:p.Phe268Ser		D1CS69|Q9NR98	Missense_Mutation	SNP	ENST00000380659.3	37	CCDS14151.1	.	.	.	.	.	.	.	.	.	.	T	11.73	1.726644	0.30593	.	.	ENSG00000196664	ENST00000380659	T	0.36699	1.24	5.63	-2.51	0.06365	.	0.270338	0.35708	N	0.003022	T	0.55832	0.1945	M	0.80746	2.51	0.39016	D	0.959651	P	0.42735	0.788	P	0.58928	0.848	T	0.61667	-0.7016	10	0.72032	D	0.01	.	15.153	0.72717	0.7566:0.0:0.0:0.2434	.	268	Q9NYK1	TLR7_HUMAN	S	268	ENSP00000370034:F268S	ENSP00000370034:F268S	F	+	2	0	TLR7	12814351	1.000000	0.71417	0.176000	0.23000	0.039000	0.13416	0.763000	0.26517	-0.939000	0.03709	-1.676000	0.00740	TTT		0.368	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562		C	12904430	T	C	12904430	3	2	716	1	0	0	0	0	1	0	0	0	15961	1841	64	3	809	3	TLR7	23	12904430	Missense_Mutation	SNP	T	TCGA-KM-8438-01A-11D-2310-10		12904430	142366130	91	40183											
PRICKLE3	4007	broad.mit.edu	37	X	49034679	49034679	+	Missense_Mutation	SNP	A	A	G			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chrX:49034679A>G	ENST00000376317.3	-	6	804	c.710T>C	c.(709-711)gTc>gCc	p.V237A	PRICKLE3_ENST00000536904.1_Missense_Mutation_p.V156A|PRICKLE3_ENST00000540849.1_Missense_Mutation_p.V169A|PRICKLE3_ENST00000538114.1_Missense_Mutation_p.V224A	NM_006150.3	NP_006141.2	O43900	PRIC3_HUMAN	prickle homolog 3 (Drosophila)	237	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.						zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2)	22						CCCGCAGTAGACCTTGCCAAC	0.627																																																0													66	44	51					X																	49034679		2202	4298	6500	SO:0001583	missense	4007			BC016856	CCDS14320.1	Xp11.23	2008-02-05	2007-09-18	2007-09-18	ENSG00000012211	ENSG00000012211			6645	protein-coding gene	gene with protein product		300111	"LIM domain only 6"	LMO6		9344658	Standard	XM_005272605		Approved		uc004dmy.1	O43900	OTTHUMG00000024134	ENST00000376317.3:c.710T>C	X.37:g.49034679A>G	ENSP00000365494:p.Val237Ala		B7Z8F2|O76007|Q53XR5	Missense_Mutation	SNP	ENST00000376317.3	37	CCDS14320.1	.	.	.	.	.	.	.	.	.	.	A	18.19	3.569778	0.65765	.	.	ENSG00000012211	ENST00000376317;ENST00000536904;ENST00000540849;ENST00000538114	D;D;D;D	0.87650	-2.28;-2.28;-2.28;-2.28	5.14	5.14	0.70334	Zinc finger, LIM-type (4);	0.000000	0.34652	N	0.003797	D	0.88808	0.6537	L	0.42581	1.335	0.44652	D	0.997632	B;D;P;P	0.60160	0.417;0.987;0.594;0.803	B;P;B;P	0.60609	0.374;0.81;0.374;0.877	D	0.88252	0.2917	10	0.44086	T	0.13	-3.6123	11.8433	0.52368	1.0:0.0:0.0:0.0	.	237;199;156;237	B2RBS3;B7Z6S4;B7Z8F2;O43900	.;.;.;PRIC3_HUMAN	A	237;156;169;224	ENSP00000365494:V237A;ENSP00000441385:V156A;ENSP00000446051:V169A;ENSP00000441743:V224A	ENSP00000365494:V237A	V	-	2	0	PRICKLE3	48921623	1.000000	0.71417	0.999000	0.59377	0.859000	0.49053	9.154000	0.94694	1.699000	0.51192	0.416000	0.27883	GTC		0.627	PRICKLE3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060811.1	NM_006150		G	49034679	A	G	49034679	3	3	716	1	0	0	0	0	1	0	0	0	12493	275	10	3	1153	3	PRICKLE3	23	49034679	Missense_Mutation	SNP	A	TCGA-KM-8438-01A-11D-2310-10	36130249	49034679	106235881	92	40184											
WNK3	65267	broad.mit.edu;mdanderson.org;bcgsc.ca	37	X	54276507	54276507	+	Missense_Mutation	SNP	G	G	A			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chrX:54276507G>A	ENST00000375159.2	-	15	2632	c.2633C>T	c.(2632-2634)aCg>aTg	p.T878M	WNK3_ENST00000354646.2_Missense_Mutation_p.T878M|WNK3_ENST00000375169.3_Missense_Mutation_p.T878M			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	878					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						GTTTCTTATCGTCTGATTGAT	0.448																																																0													51	45	47					X																	54276507		2203	4300	6503	SO:0001583	missense	65267			AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"protein kinase, lysine deficient 3"	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.2633C>T	X.37:g.54276507G>A	ENSP00000364301:p.Thr878Met		B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	ENST00000375159.2	37	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.462626	0.84425	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.28666	1.6;1.6;1.6	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000020	T	0.46776	0.1410	L	0.32530	0.975	0.43238	D	0.995146	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.992	T	0.46610	-0.9179	10	0.72032	D	0.01	-12.1503	17.1006	0.86648	0.0:0.0:1.0:0.0	.	878;878	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	M	878	ENSP00000364312:T878M;ENSP00000346667:T878M;ENSP00000364301:T878M	ENSP00000346667:T878M	T	-	2	0	WNK3	54293232	1.000000	0.71417	0.975000	0.42487	0.969000	0.65631	7.917000	0.87498	2.302000	0.77476	0.506000	0.49869	ACG		0.448	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922		A	54276507	G	A	54276507	3	1	716	1	0	0	0	0	1	0	0	0	17384	1145	40	1	2805	1	WNK3	23	54276507	Missense_Mutation	SNP	G	TCGA-KM-8438-01A-11D-2310-10	5241828	54276507	100994053	93	40185											
ARR3	407	broad.mit.edu	37	X	69498391	69498391	+	Missense_Mutation	SNP	T	T	C			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chrX:69498391T>C	ENST00000307959.8	+	12	856	c.805T>C	c.(805-807)Ttt>Ctt	p.F269L	ARR3_ENST00000374495.3_Missense_Mutation_p.F269L	NM_004312.2	NP_004303.2	P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)	269					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						CTCCCAGAGCTTTGCAGTAAC	0.493																																																0													63	60	61					X																	69498391		2203	4300	6503	SO:0001583	missense	407				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.805T>C	X.37:g.69498391T>C	ENSP00000311538:p.Phe269Leu		B5B0B9|Q5JT23|Q5JT24|Q6IBF5|Q96EN2	Missense_Mutation	SNP	ENST00000307959.8	37	CCDS14399.1	.	.	.	.	.	.	.	.	.	.	T	12.40	1.927921	0.34002	.	.	ENSG00000120500	ENST00000374495;ENST00000374480;ENST00000307959	T;T	0.15718	2.4;2.4	3.92	3.92	0.45320	Immunoglobulin E-set (1);Arrestin, C-terminal (1);Arrestin-like, C-terminal (1);	0.294134	0.37906	N	0.001899	T	0.12561	0.0305	N	0.25825	0.765	0.38402	D	0.945681	B;B	0.27823	0.19;0.023	B;B	0.32762	0.152;0.04	T	0.15178	-1.0446	10	0.17369	T	0.5	.	11.4823	0.50333	0.0:0.0:0.0:1.0	.	269;269	P36575;P36575-2	ARRC_HUMAN;.	L	269	ENSP00000363619:F269L;ENSP00000311538:F269L	ENSP00000311538:F269L	F	+	1	0	ARR3	69415116	1.000000	0.71417	0.998000	0.56505	0.756000	0.42949	7.229000	0.78088	1.354000	0.45846	0.417000	0.27973	TTT		0.493	ARR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057055.2	NM_004312		C	69498391	T	C	69498391	3	2	716	1	0	0	0	0	1	0	0	0	979	1609	56	3	847	3	ARR3	23	69498391	Missense_Mutation	SNP	T	TCGA-KM-8438-01A-11D-2310-10	15221884	69498391	85772169	94	40186											
SERPINA7	6906	mdanderson.org;bcgsc.ca	37	X	105278361	105278361	+	Missense_Mutation	SNP	C	C	A	rs1804495	byFrequency	TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chrX:105278361C>A	ENST00000327674.4	-	3	1244	c.909G>T	c.(907-909)ttG>ttT	p.L303F	SERPINA7_ENST00000487487.1_5'UTR|SERPINA7_ENST00000372563.1_Missense_Mutation_p.L303F			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	303			L -> F (common polymorphism; dbSNP:rs1804495).		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)	TTGGAACAAACAAGTCAACCC	0.408													C|||	678	0.179603	0.084	0.0778	3775	,	,		15263	0.1964		0.0855	False		,,,				2504	0.2342															0			GRCh37	CD013484|CM920665	SERPINA7	D|M	rs1804495	C	PHE/LEU	472,3363		32,335,73,1265,498	91	75	80	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	909	2.5	0.8	X	dbSNP_89	80	751,5977		33,464,221,1931,1651	yes	missense	SERPINA7	NM_000354.5	22	65,799,294,3196,2149	AA,AC,A,CC,C		11.1623,12.3077,11.5782	probably-damaging	303/416	105278361	1223,9340	2203	4300	6503	SO:0001583	missense	6906			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.909G>T	X.37:g.105278361C>A	ENSP00000329374:p.Leu303Phe		D3DUX1	Missense_Mutation	SNP	ENST00000327674.4	37	CCDS14518.1	228	0.13743218806509946	32	0.06779661016949153	27	0.07894736842105263	62	0.11877394636015326	43	0.059722222222222225	C	14.90	2.672593	0.47781	0.123077	0.111623	ENSG00000123561	ENST00000327674;ENST00000372563	D;D	0.91068	-2.78;-2.78	4.83	2.51	0.30379	Serpin domain (3);	0.628220	0.12570	N	0.457388	T	0.19565	0.0470	M	0.86028	2.79	0.58432	P	5.999999999950489E-6	D	0.58620	0.983	P	0.53809	0.735	T	0.68918	-0.5282	9	0.72032	D	0.01	.	1.9978	0.03460	0.2538:0.3548:0.0:0.3915	rs1804495;rs2071772;rs17347153;rs52796729;rs59668572;rs1804495	303	P05543	THBG_HUMAN	F	303	ENSP00000329374:L303F;ENSP00000361644:L303F	ENSP00000329374:L303F	L	-	3	2	SERPINA7	105165017	0.000000	0.05858	0.766000	0.31476	0.852000	0.48524	-0.651000	0.05372	0.352000	0.24053	0.594000	0.82650	TTG		0.408	SERPINA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057790.1	NM_000354		A	105278361	C	A	105278361	3	1	716	1	0	0	0	0	1	0	0	0	14100	477	17	4	346	4	SERPINA7	23	105278361	Missense_Mutation	SNP	C	TCGA-KM-8438-01A-11D-2310-10	35779970	105278361	49992199	95	40187											
COL16A1	1307	broad.mit.edu;hgsc.bcm.edu	37	1	32149324	32149324	+	Missense_Mutation	SNP	C	C	T			TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr1:32149324C>T	ENST00000373672.3	-	34	2879	c.2363G>A	c.(2362-2364)gGa>gAa	p.G788E	COL16A1_ENST00000271069.6_Missense_Mutation_p.G787E|COL16A1_ENST00000373668.3_Missense_Mutation_p.G788E	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	788	Collagen-like 4.|Triple-helical region 5 (COL5) with 3 imperfections.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TCCCTGGACTCCCCTTCCTGG	0.607																																					Colon(143;498 1786 21362 25193 36625)											0													74	93	87					1																	32149324		1980	4153	6133	SO:0001583	missense	1307			M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"Collagens"	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.2363G>A	1.37:g.32149324C>T	ENSP00000362776:p.Gly788Glu		Q16593|Q59F89|Q71RG9	Missense_Mutation	SNP	ENST00000373672.3	37	CCDS41297.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.360954	0.41801	.	.	ENSG00000084636	ENST00000373672;ENST00000271069;ENST00000458715;ENST00000373668	D;D;D;D	0.99353	-5.77;-5.77;-5.52;-5.77	5.17	2.28	0.28536	.	0.126713	0.51477	D	0.000088	D	0.99042	0.9672	H	0.98333	4.205	0.23978	N	0.996285	B;B;B	0.15473	0.013;0.003;0.002	B;B;B	0.23419	0.046;0.013;0.008	D	0.99838	1.1059	10	0.72032	D	0.01	.	7.1895	0.25818	0.0:0.7033:0.1397:0.157	.	788;788;788	A6NCT7;Q07092;Q07092-2	.;COGA1_HUMAN;.	E	788;787;9;788	ENSP00000362776:G788E;ENSP00000271069:G787E;ENSP00000411457:G9E;ENSP00000362772:G788E	ENSP00000271069:G787E	G	-	2	0	COL16A1	31921911	0.001000	0.12720	0.028000	0.17463	0.897000	0.52465	0.032000	0.13732	0.414000	0.25790	-0.191000	0.12829	GGA		0.607	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856		T	32149324	C	T	32149324	3	4	717	1	0	0	0	0	1	0	0	0	3675	855	30	2	2603	2	COL16A1	1	32149324	Missense_Mutation	SNP	C	TCGA-KM-8439-01A-11D-2310-10		32149324	217101297	1	40188											
RSBN1	54665	mdanderson.org	37	1	114354654	114354654	+	Silent	SNP	T	T	C	rs3195954	byFrequency	TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr1:114354654T>C	ENST00000261441.5	-	1	444	c.381A>G	c.(379-381)ccA>ccG	p.P127P	RP5-1073O3.2_ENST00000418238.1_RNA|RP5-1073O3.2_ENST00000429398.1_RNA	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	127	Pro-rich.					nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGCATTCGTTGGCGGCAGCG	0.746													T|||	610	0.121805	0.0045	0.1311	5008	,	,		11529	0.2282		0.1869	False		,,,				2504	0.0971															0								T		149,4053		2,145,1954	13	24	21		381	-4.9	0.5	1	dbSNP_105	21	1412,6854		115,1182,2836	no	coding-synonymous	RSBN1	NM_018364.3		117,1327,4790	CC,CT,TT		17.082,3.5459,12.5201		127/803	114354654	1561,10907	2101	4133	6234	SO:0001819	synonymous_variant	54665			AK002082	CCDS862.1	1p13.1	2008-02-05			ENSG00000081019	ENSG00000081019			25642	protein-coding gene	gene with protein product		615858				12477932	Standard	NM_018364		Approved	FLJ11220, ROSBIN	uc001edq.3	Q5VWQ0	OTTHUMG00000011938	ENST00000261441.5:c.381A>G	1.37:g.114354654T>C			A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Silent	SNP	ENST00000261441.5	37	CCDS862.1																																																																																				0.746	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033022.2	NM_018364		C	114354654	T	C	114354654	2	2	717	1	0	0	0	0	0	0	0	1	13702	1799	63	3		3	RSBN1	1	114354654	Silent	SNP	T	TCGA-KM-8439-01A-11D-2310-10	82205330	114354654	134895967	2	40189											
NBPF10	100132406	broad.mit.edu	37	1	145299779	145299779	+	Silent	SNP	C	C	T			TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr1:145299779C>T	ENST00000369338.1	+	2	205	c.15C>T	c.(13-15)gcC>gcT	p.A5A	NBPF10_ENST00000369339.3_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000342960.5_Silent_p.A276A			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	276						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)		TGGTATCAGCCGGCCCTTTGT	0.498																																																0													3	2	2					1																	145299779		615	1282	1897	SO:0001819	synonymous_variant	100132406			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	ENST00000369338.1:c.15C>T	1.37:g.145299779C>T			Q5RHC0|Q9NWN6	Silent	SNP	ENST00000369338.1	37																																																																																					0.498	NBPF10-003	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038552.1	NM_001039703		T	145299779	C	T	145299779	2	4	717	1	0	0	0	0	0	0	0	1	10195	639	23	1		1	NBPF10	1	145299779	Silent	SNP	C	TCGA-KM-8439-01A-11D-2310-10	30945125	145299779	103950842	3	40190											
FLG	2312	mdanderson.org	37	1	152284576	152284576	+	Missense_Mutation	SNP	C	C	A	rs143382793	byFrequency	TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr1:152284576C>A	ENST00000368799.1	-	3	2821	c.2786G>T	c.(2785-2787)gGc>gTc	p.G929V	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	929	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)			TTGTCCCTGGCCTGCCTGTGA	0.557									Ichthyosis																																							0													327	313	318					1																	152284576		2203	4300	6503	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.2786G>T	1.37:g.152284576C>A	ENSP00000357789:p.Gly929Val		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	1.719	-0.497190	0.04291	.	.	ENSG00000143631	ENST00000368799;ENST00000392689	T	0.06528	3.29	1.17	0.0422	0.14216	.	.	.	.	.	T	0.06142	0.0159	M	0.77820	2.39	0.09310	N	1	D	0.67145	0.996	P	0.58970	0.849	T	0.24977	-1.0145	9	0.21014	T	0.42	.	4.8967	0.13753	0.0:0.6064:0.3936:0.0	.	929	P20930	FILA_HUMAN	V	929;136	ENSP00000357789:G929V	ENSP00000357789:G929V	G	-	2	0	FLG	150551200	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.167000	0.09940	0.033000	0.15463	0.479000	0.44913	GGC		0.557	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		A	152284576	C	A	152284576	3	1	717	1	0	0	0	0	1	0	0	0	5924	739	26	4	9403	4	FLG	1	152284576	Missense_Mutation	SNP	C	TCGA-KM-8439-01A-11D-2310-10	6984797	152284576	96966045	4	40191											
KISS1	3814	mdanderson.org	37	1	204159787	204159787	+	Missense_Mutation	SNP	G	G	C	rs4889	byFrequency	TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr1:204159787G>C	ENST00000367194.4	-	3	390	c.242C>G	c.(241-243)cCc>cGc	p.P81R		NM_002256.3	NP_002247.3	Q15726	KISS1_HUMAN	KiSS-1 metastasis-suppressor	81			P -> R (in dbSNP:rs4889). {ECO:0000269|PubMed:15598687, ECO:0000269|PubMed:9806840, ECO:0000269|Ref.4}.		cytoskeleton organization (GO:0007010)|generation of ovulation cycle rhythm (GO:0060112)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of luteinizing hormone secretion (GO:0033686)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of synaptic transmission (GO:0050806)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				large_intestine(1)|lung(1)|ovary(1)	3	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)	Breast(1374;9.42e-05)	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.069)|Kidney(21;0.0934)|Epithelial(59;0.239)	Colorectal(1306;0.0129)		CGGCTGCTGGGGGCTCCCGGA	0.731													G|||	1652	0.329872	0.4009	0.3156	5008	,	,		8959	0.4216		0.2545	False		,,,				2504	0.227															0								G	ARG/PRO	673,1913		94,485,714	3	5	4		242	0.6	0	1	dbSNP_52	4	1170,5064		125,920,2072	no	missense	KISS1	NM_002256.3	103	219,1405,2786	CC,CG,GG		18.768,26.0247,20.8957	probably-damaging	81/139	204159787	1843,6977	1293	3117	4410	SO:0001583	missense	3814			U43527	CCDS41454.1	1q32	2014-01-30			ENSG00000170498	ENSG00000170498		"Endogenous ligands"	6341	protein-coding gene	gene with protein product	"prepro-kisspeptin", "kisspeptin"	603286				9192814, 9806840	Standard	NM_002256		Approved		uc001har.3	Q15726	OTTHUMG00000036060	ENST00000367194.4:c.242C>G	1.37:g.204159787G>C	ENSP00000356162:p.Pro81Arg		A8K6N0|Q9HBP1	Missense_Mutation	SNP	ENST00000367194.4	37	CCDS41454.1	717	0.3282967032967033	196	0.3983739837398374	99	0.27348066298342544	230	0.4020979020979021	192	0.2532981530343008	G	11.85	1.760696	0.31137	0.260247	0.18768	ENSG00000170498	ENST00000367194	T	0.80653	-1.4	4.91	0.555	0.17247	.	0.163973	0.29799	N	0.011175	T	0.00012	0.0000	N	0.12961	0.28	0.80722	P	0.0	P	0.35844	0.524	B	0.35550	0.205	T	0.32322	-0.9911	9	0.02654	T	1	-5.226	2.4672	0.04555	0.0963:0.1644:0.4016:0.3376	rs4889;rs1132315;rs3192998	81	Q15726	KISS1_HUMAN	R	81	ENSP00000356162:P81R	ENSP00000356162:P81R	P	-	2	0	KISS1	202426410	0.450000	0.25697	0.017000	0.16124	0.061000	0.15899	1.748000	0.38308	0.119000	0.18210	0.655000	0.94253	CCC		0.731	KISS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087892.1	NM_002256		C	204159787	G	C	204159787	3	2	717	1	0	0	0	0	1	0	0	0	8329	1232	43	4	178	4	KISS1	1	204159787	Missense_Mutation	SNP	G	TCGA-KM-8439-01A-11D-2310-10	51875211	204159787	45090834	5	40192											
FMN2	56776	mdanderson.org	37	1	240370995	240370995	+	Silent	SNP	G	G	A	rs201866430	byFrequency	TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr1:240370995G>A	ENST00000319653.9	+	5	3113	c.2883G>A	c.(2881-2883)ggG>ggA	p.G961G		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	961	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)			CTCTTCCCGGGGCAGGCATAC	0.692																																																0													20	23	22					1																	240370995		2199	4297	6496	SO:0001819	synonymous_variant	56776			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2883G>A	1.37:g.240370995G>A			B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	CCDS31069.2																																																																																				0.692	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		A	240370995	G	A	240370995	2	1	717	1	0	0	0	0	0	0	0	1	5952	1219	43	2		2	FMN2	1	240370995	Silent	SNP	G	TCGA-KM-8439-01A-11D-2310-10	36211208	240370995	8879626	6	40193											
FMN2	56776	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	1	240371393	240371393	+	Missense_Mutation	SNP	C	C	T	rs201701711		TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr1:240371393C>T	ENST00000319653.9	+	5	3511	c.3281C>T	c.(3280-3282)gCg>gTg	p.A1094V		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1094	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)			CTACCCGGAGCGGGCATACCC	0.731																																																0								C	VAL/ALA	2,3774		0,2,1886	5	7	6		3281	-1	0	1		6	15,7769		0,15,3877	no	missense	FMN2	NM_020066.4	64	0,17,5763	TT,TC,CC		0.1927,0.053,0.1471	benign	1094/1723	240371393	17,11543	1888	3892	5780	SO:0001583	missense	56776			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3281C>T	1.37:g.240371393C>T	ENSP00000318884:p.Ala1094Val		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	c	8.534	0.871605	0.17322	5.3E-4	0.001927	ENSG00000155816	ENST00000319653	T	0.58940	0.3	3.16	-1.05	0.10036	Actin-binding FH2/DRF autoregulatory (1);Formin Homology 1 (2);	2.671950	0.01759	N	0.030419	T	0.45196	0.1330	L	0.41573	1.285	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.06144	-1.0843	9	.	.	.	.	3.0177	0.06065	0.364:0.3658:0.0:0.2702	.	1094	Q9NZ56	FMN2_HUMAN	V	1094	ENSP00000318884:A1094V	.	A	+	2	0	FMN2	238438016	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.328000	0.01112	-0.352000	0.08237	-0.350000	0.07774	GCG		0.731	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		T	240371393	C	T	240371393	3	4	717	1	0	0	0	0	1	0	0	0	5952	768	27	1	3299	1	FMN2	1	240371393	Missense_Mutation	SNP	C	TCGA-KM-8439-01A-11D-2310-10	398	240371393	8879228	7	40194											
EPT1	85465	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	26608003	26608003	+	Missense_Mutation	SNP	G	G	A			TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr2:26608003G>A	ENST00000260585.7	+	8	1027	c.908G>A	c.(907-909)aGt>aAt	p.S303N		NM_033505.2	NP_277040.1	Q9C0D9	EPT1_HUMAN	ethanolaminephosphotransferase 1 (CDP-ethanolamine-specific)	303					glycerophospholipid biosynthetic process (GO:0046474)|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)	ethanolaminephosphotransferase activity (GO:0004307)|metal ion binding (GO:0046872)										TTTGCCAACAGTACAGTAAGA	0.284																																																0													60	51	54					2																	26608003		1802	4063	5865	SO:0001583	missense	85465				CCDS46240.1	2p23.3	2012-03-01			ENSG00000138018	ENSG00000138018	2.7.8.1		29361	protein-coding gene	gene with protein product	"selenoprotein I"	607915				11214970, 17132865	Standard	NM_033505		Approved	KIAA1724, SELI, SEPI	uc021veu.1	Q9C0D9	OTTHUMG00000151931	ENST00000260585.7:c.908G>A	2.37:g.26608003G>A	ENSP00000260585:p.Ser303Asn		Q63ZE3	Missense_Mutation	SNP	ENST00000260585.7	37	CCDS46240.1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.068278	0.36470	.	.	ENSG00000138018	ENST00000260585;ENST00000447170	T	0.45668	0.89	5.97	-8.32	0.00996	.	0.347133	0.32901	N	0.005501	T	0.27134	0.0665	L	0.33339	1.005	0.21445	N	0.999682	B	0.13594	0.008	B	0.09377	0.004	T	0.02498	-1.1150	10	0.72032	D	0.01	-11.6859	16.1861	0.81955	0.092:0.0:0.6776:0.2304	.	303	Q9C0D9	EPT1_HUMAN	N	303;179	ENSP00000260585:S303N	ENSP00000260585:S303N	S	+	2	0	EPT1	26461507	1.000000	0.71417	0.052000	0.19188	0.946000	0.59487	1.312000	0.33574	-1.757000	0.01316	-0.275000	0.10095	AGT		0.284	EPT1-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000324484.3	NM_033505.2		A	26608003	G	A	26608003	3	1	717	1	0	0	0	0	1	0	0	0	5201	1029	36	2	938	2	EPT1	2	26608003	Missense_Mutation	SNP	G	TCGA-KM-8439-01A-11D-2310-10		26608003	216591370	8	40195											
DUSP11	8446	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	2	74007178	74007178	+	Missense_Mutation	SNP	G	G	A	rs574278061	byFrequency	TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr2:74007178G>A	ENST00000272444.3	-	1	106	c.65C>T	c.(64-66)tCt>tTt	p.S22F	DUSP11_ENST00000377706.4_5'UTR|DUSP11_ENST00000443070.1_Missense_Mutation_p.S22F|DUSP11_ENST00000480948.1_5'Flank	NM_003584.2	NP_003575.2	O75319	DUS11_HUMAN	dual specificity phosphatase 11 (RNA/RNP complex 1-interacting)	0					peptidyl-tyrosine dephosphorylation (GO:0035335)|polynucleotide 5' dephosphorylation (GO:0098507)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide phosphatase activity, acting on free nucleotides (GO:0098519)|phosphatase activity (GO:0016791)|poly(A) RNA binding (GO:0044822)|polynucleotide 5'-phosphatase activity (GO:0004651)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|skin(1)	12						GCCAGGATAAGACCCTAAACA	0.637											OREG0014714	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	2	0.000399361	0.0015	0.0	5008	,	,		17848	0.0		0.0	False		,,,				2504	0.0															0													30	40	37					2																	74007178		692	1591	2283	SO:0001583	missense	8446			AF023917	CCDS1928.2	2p13.1	2011-06-09			ENSG00000144048	ENSG00000144048		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	3066	protein-coding gene	gene with protein product		603092				9685386	Standard	NM_003584		Approved	PIR1	uc002sjp.3	O75319	OTTHUMG00000129816	ENST00000272444.3:c.65C>T	2.37:g.74007178G>A	ENSP00000272444:p.Ser22Phe	1149	B2RCT8|Q6AI47|Q9BWE3	Missense_Mutation	SNP	ENST00000272444.3	37	CCDS1928.2	.	.	.	.	.	.	.	.	.	.	G	14.78	2.638396	0.47153	.	.	ENSG00000144048	ENST00000272444;ENST00000443070	T	0.36699	1.24	3.97	0.177	0.15054	.	.	.	.	.	T	0.15046	0.0363	N	0.08118	0	0.20196	N	0.999924	B	0.10296	0.003	B	0.06405	0.002	T	0.32745	-0.9895	9	0.12103	T	0.63	.	6.2359	0.20762	0.4426:0.0:0.5574:0.0	.	22	C9JYA6	.	F	22	ENSP00000413444:S22F	ENSP00000272444:S22F	S	-	2	0	DUSP11	73860686	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.512000	0.22755	0.011000	0.14865	-0.258000	0.10820	TCT		0.637	DUSP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252047.3			A	74007178	G	A	74007178	3	1	717	1	0	0	0	0	1	0	0	0	4813	942	33	2	1104	2	DUSP11	2	74007178	Missense_Mutation	SNP	G	TCGA-KM-8439-01A-11D-2310-10	47399175	74007178	169192195	9	40196											
KCMF1	56888	broad.mit.edu;hgsc.bcm.edu	37	2	85262268	85262268	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr2:85262268delC	ENST00000409785.4	+	3	673	c.314delC	c.(313-315)tcafs	p.S105fs		NM_020122.4	NP_064507.3	Q9P0J7	KCMF1_HUMAN	potassium channel modulatory factor 1	105							ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			ovary(3)	3						GCAGAAACATCAACAGAAGTG	0.373																																																0													81	70	73					2																	85262268		1876	4123	5999	SO:0001589	frameshift_variant	56888			AF155652	CCDS46350.1	2p11.2	2010-11-23			ENSG00000176407	ENSG00000176407		"Zinc fingers, ZZ-type"	20589	protein-coding gene	gene with protein product		614719					Standard	NM_020122		Approved	DEBT91, PCMF, DKFZP434L1021, ZZZ1	uc002sox.4	Q9P0J7	OTTHUMG00000153004	ENST00000409785.4:c.314delC	2.37:g.85262268delC	ENSP00000386738:p.Ser105fs		Q4ZG04|Q53SC7|Q9BWK2|Q9H8P5|Q9UFE8	Frame_Shift_Del	DEL	ENST00000409785.4	37	CCDS46350.1																																																																																				0.373	KCMF1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328942.4	NM_020122		-	85262268	C	-	85262268	7	5	717	1	0	1	0	1	0	0	0	0	8002	838	29	0	324	0	KCMF1	2	85262268	Frame_Shift_Del	DEL	C	TCGA-KM-8439-01A-11D-2310-10	11255090	85262268	157937105	10	40197	349	2									
KCMF1	56888	bcgsc.ca	37	2	85262269	85262269	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr2:85262269delC	ENST00000409785.4	+	3	674	c.315delC	c.(313-315)tccfs	p.S105fs		NM_020122.4	NP_064507.3	Q9P0J7	KCMF1_HUMAN	potassium channel modulatory factor 1	105							ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			ovary(3)	3						CAGAAACATCAACAGAAGTGG	0.373																																																0													79	68	71					2																	85262269		1875	4123	5998	SO:0001589	frameshift_variant	56888			AF155652	CCDS46350.1	2p11.2	2010-11-23			ENSG00000176407	ENSG00000176407		"Zinc fingers, ZZ-type"	20589	protein-coding gene	gene with protein product		614719					Standard	NM_020122		Approved	DEBT91, PCMF, DKFZP434L1021, ZZZ1	uc002sox.4	Q9P0J7	OTTHUMG00000153004	ENST00000409785.4:c.315delC	2.37:g.85262269delC	ENSP00000386738:p.Ser105fs		Q4ZG04|Q53SC7|Q9BWK2|Q9H8P5|Q9UFE8	Frame_Shift_Del	DEL	ENST00000409785.4	37	CCDS46350.1																																																																																				0.373	KCMF1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328942.4	NM_020122		-	85262269	C	-	85262269	7	5	717	1	0	1	0	1	0	0	0	0	8002	117	5	0	325	0	KCMF1	2	85262269	Frame_Shift_Del	DEL	C	TCGA-KM-8439-01A-11D-2310-10	1	85262269	157937104	11	40198	349	2									
POTEE	445582	mdanderson.org	37	2	132021475	132021475	+	Missense_Mutation	SNP	G	G	A	rs11546936		TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr2:132021475G>A	ENST00000356920.5	+	15	2541	c.2447G>A	c.(2446-2448)cGc>cAc	p.R816H	PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_3'UTR	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	816	Actin-like.				retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											AAGGCCAACCGCGAGAAGATG	0.607																																																0													78	80	79					2																	132021475		2127	4190	6317	SO:0001583	missense	445582			AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33895	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 2"	608914	"ANKRD26-like family C, member 1A"	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.2447G>A	2.37:g.132021475G>A	ENSP00000439189:p.Arg816His		Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	18.42	3.621132	0.66787	.	.	ENSG00000188219	ENST00000356920	D	0.97066	-4.23	.	.	.	Actin/actin-like conserved site (1);	.	.	.	.	D	0.98817	0.9601	H	0.99261	4.49	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	D	0.96667	0.9493	8	0.87932	D	0	.	5.9051	0.18992	8.0E-4:0.0:0.9992:0.0	rs11546936	816	Q6S8J3	POTEE_HUMAN	H	816	ENSP00000439189:R816H	ENSP00000439189:R816H	R	+	2	0	AC131180.1	131737945	1.000000	0.71417	0.216000	0.23742	0.219000	0.24729	6.504000	0.73704	0.119000	0.18210	0.121000	0.15741	CGC		0.607	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		A	132021475	G	A	132021475	3	1	717	1	0	0	0	0	1	0	0	0	12266	1087	38	1	2505	1	POTEE	2	132021475	Missense_Mutation	SNP	G	TCGA-KM-8439-01A-11D-2310-10	46759206	132021475	111177898	12	40199											
LRBA	987	broad.mit.edu	37	4	151842427	151842427	+	Silent	SNP	A	A	G			TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr4:151842427A>G	ENST00000357115.3	-	5	811	c.568T>C	c.(568-570)Ttg>Ctg	p.L190L	LRBA_ENST00000535741.1_Silent_p.L190L|LRBA_ENST00000507224.1_Silent_p.L190L|LRBA_ENST00000510413.1_Silent_p.L190L	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	190						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)					ACAGACAGCAACTTCCCAGCA	0.338																																																0													130	126	127					4																	151842427		2203	4300	6503	SO:0001819	synonymous_variant	987			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.568T>C	4.37:g.151842427A>G			Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Silent	SNP	ENST00000357115.3	37	CCDS3773.1																																																																																				0.338	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			G	151842427	A	G	151842427	2	3	717	1	0	0	0	0	0	0	0	1	8933	40	2	3		3	LRBA	4	151842427	Silent	SNP	A	TCGA-KM-8439-01A-11D-2310-10		151842427	39311849	13	40200											
DND1	373863	mdanderson.org	37	5	140052407	140052407	+	Missense_Mutation	SNP	G	G	A	rs72800920		TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr5:140052407G>A	ENST00000542735.1	-	3	270	c.227C>T	c.(226-228)cCg>cTg	p.P76L		NM_194249.2	NP_919225.1	Q8IYX4	DND1_HUMAN	DND microRNA-mediated repression inhibitor 1	76	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of gene silencing by miRNA (GO:0060965)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)	p.P76L(1)		central_nervous_system(1)|prostate(4)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGAACAGCGGGATAAGCTG	0.667																																																1	Substitution - Missense(1)	prostate(1)											13	20	17					5																	140052407		2184	4291	6475	SO:0001583	missense	373863			AY321065	CCDS4236.1	5q31.3	2013-07-31	2013-07-31		ENSG00000256453	ENSG00000256453		"RNA binding motif (RRM) containing"	23799	protein-coding gene	gene with protein product		609385	"dead end homolog 1 (zebrafish)"			12932328	Standard	NM_194249		Approved	MGC34750, RBMS4	uc003lgt.3	Q8IYX4	OTTHUMG00000129499	ENST00000542735.1:c.227C>T	5.37:g.140052407G>A	ENSP00000445366:p.Pro76Leu			Missense_Mutation	SNP	ENST00000542735.1	37	CCDS4236.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.250143	0.80024	.	.	ENSG00000256453	ENST00000542735	T	0.15718	2.4	5.35	5.35	0.76521	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.64402	D	0.000003	T	0.51058	0.1652	M	0.88450	2.955	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.60403	-0.7270	10	0.87932	D	0	-9.8139	18.6578	0.91460	0.0:0.0:1.0:0.0	.	76	Q8IYX4	DND1_HUMAN	L	76	ENSP00000445366:P76L	ENSP00000445366:P76L	P	-	2	0	DND1	140032591	1.000000	0.71417	1.000000	0.80357	0.232000	0.25224	9.637000	0.98443	2.499000	0.84300	0.467000	0.42956	CCG		0.667	DND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251669.2	NM_194249		A	140052407	G	A	140052407	3	1	717	1	0	0	0	0	1	0	0	0	4668	1116	39	1	842	1	DND1	5	140052407	Missense_Mutation	SNP	G	TCGA-KM-8439-01A-11D-2310-10		140052407	40862853	14	40201											
PCDHA5	56143	hgsc.bcm.edu	37	5	140201458	140201458	+	Missense_Mutation	SNP	C	C	T	rs144627570		TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr5:140201458C>T	ENST00000529859.1	+	1	98	c.98C>T	c.(97-99)tCg>tTg	p.S33L	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.S33L|PCDHA5_ENST00000529619.1_Missense_Mutation_p.S33L|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	33	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)|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)			CTCCACTACTCGATCCCGGAG	0.647																																																0								C	,,,,LEU/SER,,LEU/SER	1,4405	2.1+/-5.4	0,1,2202	53	60	58		,,,,98,,98	3.9	1	5	dbSNP_134	58	0,8600		0,0,4300	no	intron,intron,intron,intron,missense,intron,missense	PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_031411.1,NM_031501.1	,,,,145,,145	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,,,,	,,,,33/937,,33/817	140201458	1,13005	2203	4300	6503	SO:0001583	missense	56143			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.98C>T	5.37:g.140201458C>T	ENSP00000436557:p.Ser33Leu		O75284|Q8N4R3	Missense_Mutation	SNP	ENST00000529859.1	37	CCDS54917.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.669759	0.47677	2.27E-4	0.0	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.36340	1.26;1.26;1.26	3.87	3.87	0.44632	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.48150	0.1484	H	0.96111	3.77	0.25383	N	0.988592	B;P;B	0.36599	0.287;0.56;0.374	B;B;B	0.27608	0.081;0.06;0.07	T	0.57562	-0.7790	9	0.66056	D	0.02	.	9.9783	0.41797	0.0:0.9042:0.0:0.0958	.	33;33;33	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	L	33	ENSP00000433416:S33L;ENSP00000436557:S33L;ENSP00000367366:S33L	ENSP00000367366:S33L	S	+	2	0	PCDHA5	140181642	0.998000	0.40836	0.995000	0.50966	0.957000	0.61999	4.077000	0.57598	1.858000	0.53909	0.585000	0.79938	TCG		0.647	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		T	140201458	C	T	140201458	3	4	717	1	0	0	0	0	1	0	0	0	11529	893	31	1	100	1	PCDHA5	5	140201458	Missense_Mutation	SNP	C	TCGA-KM-8439-01A-11D-2310-10	149051	140201458	40713802	15	40202											
FAM8A1	51439	mdanderson.org	37	6	17602863	17602863	+	Missense_Mutation	SNP	C	C	T	rs80120441	byFrequency	TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr6:17602863C>T	ENST00000259963.3	+	2	810	c.755C>T	c.(754-756)gCa>gTa	p.A252V		NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	252	RDD.					integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			AGATTTATGGCAGAGATGGTG	0.348																																																0													137	138	138					6																	17602863		2203	4299	6502	SO:0001583	missense	51439			AF097027	CCDS4540.1	6p23	2010-11-22			ENSG00000137414	ENSG00000137414			16372	protein-coding gene	gene with protein product						11707071	Standard	NM_016255		Approved	AHCP	uc003ncc.3	Q9UBU6	OTTHUMG00000014309	ENST00000259963.3:c.755C>T	6.37:g.17602863C>T	ENSP00000259963:p.Ala252Val		B2R725	Missense_Mutation	SNP	ENST00000259963.3	37	CCDS4540.1	.	.	.	.	.	.	.	.	.	.	C	32	5.151658	0.94645	.	.	ENSG00000137414	ENST00000542476;ENST00000259963	.	.	.	5.1	5.1	0.69264	RDD (1);	0.058285	0.64402	D	0.000002	T	0.81341	0.4802	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84502	0.0617	9	0.87932	D	0	-6.6518	18.5673	0.91121	0.0:1.0:0.0:0.0	.	252	Q9UBU6	FA8A1_HUMAN	V	2;252	.	ENSP00000259963:A252V	A	+	2	0	FAM8A1	17710842	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.481000	0.81124	2.356000	0.79943	0.644000	0.83932	GCA		0.348	FAM8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039950.1			T	17602863	C	T	17602863	3	4	717	1	0	0	0	0	1	0	0	0	5651	710	25	2	761	2	FAM8A1	6	17602863	Missense_Mutation	SNP	C	TCGA-KM-8439-01A-11D-2310-10		17602863	153512204	16	40203			1	84		3	3	48	N	G_C_A	2.284128e-09
FAM8A1	51439	mdanderson.org	37	6	17602895	17602895	+	Missense_Mutation	SNP	A	A	G	rs79412549	byFrequency	TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr6:17602895A>G	ENST00000259963.3	+	2	842	c.787A>G	c.(787-789)Ata>Gta	p.I263V		NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	263	RDD.					integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			TCTCTTCTTTATAAAAGCAAC	0.333																																																0													126	129	128					6																	17602895		2203	4299	6502	SO:0001583	missense	51439			AF097027	CCDS4540.1	6p23	2010-11-22			ENSG00000137414	ENSG00000137414			16372	protein-coding gene	gene with protein product						11707071	Standard	NM_016255		Approved	AHCP	uc003ncc.3	Q9UBU6	OTTHUMG00000014309	ENST00000259963.3:c.787A>G	6.37:g.17602895A>G	ENSP00000259963:p.Ile263Val		B2R725	Missense_Mutation	SNP	ENST00000259963.3	37	CCDS4540.1	.	.	.	.	.	.	.	.	.	.	A	11.33	1.607815	0.28623	.	.	ENSG00000137414	ENST00000542476;ENST00000259963	.	.	.	5.14	3.99	0.46301	RDD (1);	0.111766	0.64402	D	0.000020	T	0.15435	0.0372	N	0.11560	0.145	0.50467	D	0.999878	B	0.26577	0.153	B	0.20577	0.03	T	0.06752	-1.0809	9	0.27082	T	0.32	-7.5971	10.2614	0.43430	0.9218:0.0:0.0782:0.0	.	263	Q9UBU6	FA8A1_HUMAN	V	13;263	.	ENSP00000259963:I263V	I	+	1	0	FAM8A1	17710874	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.699000	0.54778	1.912000	0.55364	0.528000	0.53228	ATA		0.333	FAM8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039950.1			G	17602895	A	G	17602895	3	3	717	1	0	0	0	0	1	0	0	0	5651	449	16	3	793	3	FAM8A1	6	17602895	Missense_Mutation	SNP	A	TCGA-KM-8439-01A-11D-2310-10	32	17602895	153512172	17	40204			1	84		3	3	48	N	G_C_A	2.284128e-09
FAM8A1	51439	mdanderson.org	37	6	17602910	17602910	+	Missense_Mutation	SNP	G	G	A	rs144013791	byFrequency	TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr6:17602910G>A	ENST00000259963.3	+	2	857	c.802G>A	c.(802-804)Gtc>Atc	p.V268I		NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	268	RDD.					integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			AGCAACCATTGTCTTAAGCAT	0.343																																																0													129	131	130					6																	17602910		2203	4299	6502	SO:0001583	missense	51439			AF097027	CCDS4540.1	6p23	2010-11-22			ENSG00000137414	ENSG00000137414			16372	protein-coding gene	gene with protein product						11707071	Standard	NM_016255		Approved	AHCP	uc003ncc.3	Q9UBU6	OTTHUMG00000014309	ENST00000259963.3:c.802G>A	6.37:g.17602910G>A	ENSP00000259963:p.Val268Ile		B2R725	Missense_Mutation	SNP	ENST00000259963.3	37	CCDS4540.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.129586	0.56721	.	.	ENSG00000137414	ENST00000542476;ENST00000259963	.	.	.	5.14	5.14	0.70334	RDD (1);	0.294262	0.32068	N	0.006636	T	0.14657	0.0354	N	0.12746	0.255	0.38313	D	0.943307	P	0.44776	0.843	B	0.40659	0.336	T	0.03619	-1.1019	9	0.17832	T	0.49	-14.4303	10.2941	0.43613	0.1541:0.0:0.8459:0.0	.	268	Q9UBU6	FA8A1_HUMAN	I	18;268	.	ENSP00000259963:V268I	V	+	1	0	FAM8A1	17710889	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.361000	0.52306	2.361000	0.80049	0.650000	0.86243	GTC		0.343	FAM8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039950.1			A	17602910	G	A	17602910	3	1	717	1	0	0	0	0	1	0	0	0	5651	1377	48	2	808	2	FAM8A1	6	17602910	Missense_Mutation	SNP	G	TCGA-KM-8439-01A-11D-2310-10	15	17602910	153512157	18	40205			1	84		3	3	48	N	G_C_A	2.284128e-09
C6orf134	79969	broad.mit.edu	37	6	30610646	30610646	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr6:30610646delT	ENST00000376485.4	+	10	856	c.826delT	c.(826-828)tcafs	p.S276fs	ATAT1_ENST00000376483.4_Frame_Shift_Del_p.S276fs|ATAT1_ENST00000468713.1_Intron|ATAT1_ENST00000318999.7_Frame_Shift_Del_p.S253fs|ATAT1_ENST00000329992.8_Frame_Shift_Del_p.S276fs|ATAT1_ENST00000330083.5_Frame_Shift_Del_p.S264fs|ATAT1_ENST00000319027.5_Frame_Shift_Del_p.S253fs|ATAT1_ENST00000376478.2_Frame_Shift_Del_p.S253fs					alpha tubulin acetyltransferase 1											cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	9						CCTGGGAAACTCACCAGAACG	0.682																																																0													25	20	22					6																	30610646		2201	4298	6499	SO:0001589	frameshift_variant	79969			AK023220	CCDS4683.2, CCDS54978.1, CCDS59002.1	6p21.32	2014-06-17	2010-10-11	2010-10-11	ENSG00000137343	ENSG00000137343	2.3.1.108		21186	protein-coding gene	gene with protein product	"alpha-tubulin N-acetyltransferase"	615556	"chromosome 6 open reading frame 134"	C6orf134		20829795	Standard	NM_024909		Approved	FLJ13158, Em:AB023049.7, MEC17	uc003nqv.3	Q5SQI0	OTTHUMG00000031219	ENST00000376485.4:c.826delT	6.37:g.30610646delT	ENSP00000365668:p.Ser276fs			Frame_Shift_Del	DEL	ENST00000376485.4	37																																																																																					0.682	ATAT1-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000076449.2	NM_024909		-	30610646	T	-	30610646	7	5	717	1	0	1	0	1	0	0	0	0	2332	1551	54	0	864	0	C6orf134	6	30610646	Frame_Shift_Del	DEL	T	TCGA-KM-8439-01A-11D-2310-10	13007736	30610646	140504421	19	40206											
MUC21	394263	mdanderson.org	37	6	30955201	30955201	+	Missense_Mutation	SNP	G	G	A	rs2508018	byFrequency	TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr6:30955201G>A	ENST00000376296.3	+	2	1490	c.1249G>A	c.(1249-1251)Gcc>Acc	p.A417T	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	417	28 X 15 AA approximate tandem repeats.|Ser-rich.			A -> I (in Ref. 3; AAQ88781 and 4; CAQ08321). {ECO:0000305}.	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						GTCCAGTGGGGCCAGCACTGC	0.627													g|||	404	0.0806709	0.0749	0.1427	5008	,	,		20374	0.0556		0.0805	False		,,,				2504	0.0706															0													140	136	137					6																	30955201		2203	4300	6503	SO:0001583	missense	394263			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.1249G>A	6.37:g.30955201G>A	ENSP00000365473:p.Ala417Thr		B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	ENST00000376296.3	37	CCDS34388.1	217	0.09935897435897435	48	0.0975609756097561	60	0.16574585635359115	55	0.09615384615384616	54	0.0712401055408971	g	0.076	-1.192559	0.01607	.	.	ENSG00000204544	ENST00000450707;ENST00000376296	T	0.01287	5.05	3.58	-7.16	0.01516	.	.	.	.	.	T	0.00178	0.0005	N	0.04508	-0.205	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.45026	-0.9289	9	0.06625	T	0.88	-0.4275	6.7193	0.23321	0.1341:0.0:0.3783:0.4876	rs2508018;rs2508018	417	Q5SSG8	MUC21_HUMAN	T	267;417	ENSP00000365473:A417T	ENSP00000365473:A417T	A	+	1	0	MUC21	31063180	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-1.607000	0.02070	-2.884000	0.00318	0.586000	0.80456	GCC		0.627	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		A	30955201	G	A	30955201	3	1	717	1	0	0	0	0	1	0	0	0	9979	1203	42	2	1255	2	MUC21	6	30955201	Missense_Mutation	SNP	G	TCGA-KM-8439-01A-11D-2310-10	344555	30955201	140159866	20	40207											
FAM26F	441168	mdanderson.org	37	6	116783330	116783330	+	Missense_Mutation	SNP	G	G	A	rs1057192	byFrequency	TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr6:116783330G>A	ENST00000368605.1	+	2	333	c.238G>A	c.(238-240)Gga>Aga	p.G80R	FAM26F_ENST00000368606.3_Intron|RP1-93H18.6_ENST00000476099.1_RNA	NM_001010919.1	NP_001010919.1	Q5R3K3	FA26F_HUMAN	family with sequence similarity 26, member F	80			G -> R (in dbSNP:rs1057192).		ion transport (GO:0006811)	integral component of membrane (GO:0016021)				large_intestine(2)|lung(1)	3				GBM - Glioblastoma multiforme(226;0.0402)|all cancers(137;0.0627)|OV - Ovarian serous cystadenocarcinoma(136;0.0655)|Epithelial(106;0.231)		CCTGCTCACCGGATGCTGCTC	0.721													G|||	1200	0.239617	0.0628	0.17	5008	,	,		13100	0.3651		0.2485	False		,,,				2504	0.3896															0								G	ARG/GLY	285,3437		11,263,1587	4	4	4		238	4.2	1	6	dbSNP_86	4	1331,5787		122,1087,2350	yes	missense	FAM26F	NM_001010919.1	125	133,1350,3937	AA,AG,GG		18.6991,7.6572,14.9077	probably-damaging	80/316	116783330	1616,9224	1861	3559	5420	SO:0001583	missense	441168			AF086130	CCDS34519.1, CCDS64506.1	6q22.1	2007-06-20			ENSG00000188820	ENSG00000188820			33391	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 187"	C6orf187			Standard	NM_001010919		Approved	RP1-93H18.5, OTTHUMP00000017061, OTTHUMP00000017062, dJ93H18.5	uc003pwv.4	Q5R3K3	OTTHUMG00000015438	ENST00000368605.1:c.238G>A	6.37:g.116783330G>A	ENSP00000357594:p.Gly80Arg		B9EJB0|Q5R3K4	Missense_Mutation	SNP	ENST00000368605.1	37	CCDS34519.1	492	0.22527472527472528	23	0.046747967479674794	64	0.17679558011049723	209	0.36538461538461536	196	0.25857519788918204	G	19.26	3.793370	0.70452	0.076572	0.186991	ENSG00000188820	ENST00000368605	T	0.24908	1.83	5.1	4.22	0.49857	.	0.060943	0.64402	D	0.000004	T	0.45498	0.1345	M	0.83223	2.63	0.09310	P	0.999999384292	D	0.89917	1.0	D	0.79784	0.993	T	0.59150	-0.7508	9	0.87932	D	0	-20.7189	15.7243	0.77743	0.0:0.137:0.863:0.0	rs1057192;rs3173147	80	Q5R3K3	FA26F_HUMAN	R	80	ENSP00000357594:G80R	ENSP00000357594:G80R	G	+	1	0	FAM26F	116890023	1.000000	0.71417	1.000000	0.80357	0.014000	0.08584	4.925000	0.63425	1.372000	0.46190	0.491000	0.48974	GGA		0.721	FAM26F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041946.1	NM_001010919		A	116783330	G	A	116783330	3	1	717	1	0	0	0	0	1	0	0	0	5553	1117	39	1	240	1	FAM26F	6	116783330	Missense_Mutation	SNP	G	TCGA-KM-8439-01A-11D-2310-10	85828129	116783330	54331737	21	40208											
EYA4	2070	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	6	133789819	133789819	+	Missense_Mutation	SNP	C	C	A			TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr6:133789819C>A	ENST00000367895.5	+	11	1384	c.920C>A	c.(919-921)aCc>aAc	p.T307N	EYA4_ENST00000531901.1_Missense_Mutation_p.T307N|EYA4_ENST00000431403.2_Missense_Mutation_p.T307N|EYA4_ENST00000430974.2_Missense_Mutation_p.T253N|EYA4_ENST00000452339.2_Missense_Mutation_p.T253N|EYA4_ENST00000355167.3_Missense_Mutation_p.T307N|EYA4_ENST00000355286.6_Missense_Mutation_p.T284N|EYA4_ENST00000525849.1_Missense_Mutation_p.T284N	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4	307					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)		CCCTCTTCAACCTCTACTTAT	0.428																																					Melanoma(57;398 1237 3528 4702 7415)											0													144	134	137					6																	133789819		2203	4300	6503	SO:0001583	missense	2070			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.920C>A	6.37:g.133789819C>A	ENSP00000356870:p.Thr307Asn		B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Missense_Mutation	SNP	ENST00000367895.5	37	CCDS5165.1	.	.	.	.	.	.	.	.	.	.	C	9.714	1.157769	0.21454	.	.	ENSG00000112319	ENST00000452339;ENST00000430974;ENST00000367895;ENST00000355167;ENST00000355286;ENST00000531901;ENST00000525849;ENST00000431403	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	5.73	5.73	0.89815	.	0.362558	0.29348	N	0.012408	T	0.64843	0.2635	L	0.29908	0.895	0.40010	D	0.975276	B;B;B;B;B;B	0.26845	0.001;0.001;0.161;0.05;0.004;0.0	B;B;B;B;B;B	0.29176	0.004;0.007;0.099;0.067;0.011;0.004	T	0.61197	-0.7111	10	0.24483	T	0.36	0.0301	20.27	0.98469	0.0:1.0:0.0:0.0	.	307;253;253;284;307;307	F2Z2Y1;E7ESD5;E7EN58;O95677-2;O95677-4;O95677	.;.;.;.;.;EYA4_HUMAN	N	253;253;307;307;284;307;284;307	ENSP00000395916:T253N;ENSP00000388670:T253N;ENSP00000356870:T307N;ENSP00000347294:T307N;ENSP00000347434:T284N;ENSP00000432770:T307N;ENSP00000433219:T284N;ENSP00000404558:T307N	ENSP00000347294:T307N	T	+	2	0	EYA4	133831512	0.982000	0.34865	0.257000	0.24404	0.034000	0.12701	5.675000	0.68123	2.854000	0.98071	0.655000	0.94253	ACC		0.428	EYA4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042282.2	NM_004100		A	133789819	C	A	133789819	3	1	717	1	0	0	0	0	1	0	0	0	5333	507	18	4	958	4	EYA4	6	133789819	Missense_Mutation	SNP	C	TCGA-KM-8439-01A-11D-2310-10	17006489	133789819	37325248	22	40209											
CYP2W1	54905	mdanderson.org	37	7	1023013	1023013	+	Silent	SNP	C	C	T	rs2272375	byFrequency	TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr7:1023013C>T	ENST00000308919.7	+	1	179	c.166C>T	c.(166-168)Ctg>Ttg	p.L56L	CYP2W1_ENST00000340150.6_5'UTR	NM_017781.2	NP_060251.2	Q8TAV3	CP2W1_HUMAN	cytochrome P450, family 2, subfamily W, polypeptide 1	56					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		GGACCGGTCCCTGATGGAGGT	0.711													C|||	1804	0.360224	0.5098	0.3343	5008	,	,		12799	0.3115		0.2744	False		,,,				2504	0.3149															0								C		1532,2094		347,838,628	11	10	10		166	4.5	0.8	7	dbSNP_100	10	1881,5021		306,1269,1876	no	coding-synonymous	CYP2W1	NM_017781.2		653,2107,2504	TT,TC,CC		27.253,42.2504,32.4183		56/491	1023013	3413,7115	1813	3451	5264	SO:0001819	synonymous_variant	54905			AK000366	CCDS5319.2	7p22.3	2004-07-05			ENSG00000073067	ENSG00000073067		"Cytochrome P450s"	20243	protein-coding gene	gene with protein product		615967					Standard	XM_005249792		Approved	FLJ20359, MGC34287	uc003sjq.1	Q8TAV3	OTTHUMG00000074071	ENST00000308919.7:c.166C>T	7.37:g.1023013C>T				Silent	SNP	ENST00000308919.7	37	CCDS5319.2																																																																																				0.711	CYP2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157249.1	NM_017781		T	1023013	C	T	1023013	2	4	717	1	0	0	0	0	0	0	0	1	4178	680	24	2		2	CYP2W1	7	1023013	Silent	SNP	C	TCGA-KM-8439-01A-11D-2310-10		1023013	158115650	23	40210											
TNRC18	84629	ucsc.edu	37	7	5401630	5401630	+	Missense_Mutation	SNP	T	T	C			TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr7:5401630T>C	ENST00000430969.1	-	13	4778	c.4430A>G	c.(4429-4431)gAc>gGc	p.D1477G	TNRC18_ENST00000399537.4_Missense_Mutation_p.D1477G	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1477							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)		CTCCAGGGCGTCCATGTCCTC	0.657																																																0													27	30	29					7																	5401630		2077	4195	6272	SO:0001583	missense	84629			U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"Trinucleotide (CAG) repeat containing"	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.4430A>G	7.37:g.5401630T>C	ENSP00000395538:p.Asp1477Gly		A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	37	CCDS47534.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.001004	0.74818	.	.	ENSG00000182095	ENST00000399537;ENST00000430969;ENST00000399544;ENST00000440081	T;T;T	0.26067	1.91;1.91;1.76	5.52	4.36	0.52297	.	0.146929	0.31734	N	0.007157	T	0.30854	0.0778	M	0.78637	2.42	0.58432	D	0.999996	B	0.22541	0.071	B	0.17722	0.019	T	0.08493	-1.0719	10	0.54805	T	0.06	.	11.2443	0.48987	0.0:0.072:0.0:0.928	.	1477	O15417	TNC18_HUMAN	G	1477;1477;532;10	ENSP00000382452:D1477G;ENSP00000395538:D1477G;ENSP00000395990:D10G	ENSP00000382452:D1477G	D	-	2	0	TNRC18	5368156	1.000000	0.71417	0.948000	0.38648	0.829000	0.46940	3.427000	0.52785	0.933000	0.37291	0.459000	0.35465	GAC		0.657	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				C	5401630	T	C	5401630	3	2	717	1	0	0	0	0	1	0	0	0	16344	1667	58	3	4548	3	TNRC18	7	5401630	Missense_Mutation	SNP	T	TCGA-KM-8439-01A-11D-2310-10	4378617	5401630	153737033	24	40211											
WIPF3	644150	broad.mit.edu	37	7	29924113	29924114	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr7:29924113_29924114insC	ENST00000409290.1	+	4	1003_1004	c.1003_1004insC	c.(1003-1005)gccfs	p.A335fs	WIPF3_ENST00000242140.5_Frame_Shift_Ins_p.A335fs|WIPF3_ENST00000409123.1_Frame_Shift_Ins_p.A335fs	NM_001080529.2	NP_001073998.2	A6NGB9	WIPF3_HUMAN	WAS/WASL interacting protein family, member 3	335					cell differentiation (GO:0030154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)				breast(2)|large_intestine(3)|lung(6)|ovary(1)	12						CAGCTTCCAGGCCCCACCGCAG	0.668																																																0																																										SO:0001589	frameshift_variant	644150			AK094250	CCDS56472.1	7p15.1	2006-10-12			ENSG00000122574	ENSG00000122574			22004	protein-coding gene	gene with protein product		612432					Standard	NM_001080529		Approved	CR16, FLJ36931	uc022aaz.1	A6NGB9	OTTHUMG00000152761	ENST00000409290.1:c.1007dupC	7.37:g.29924117_29924117dupC	ENSP00000386878:p.Ala335fs		B8ZZV2	Frame_Shift_Ins	INS	ENST00000409290.1	37	CCDS56472.1																																																																																				0.668	WIPF3-002	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327705.1			C	29924114	-	C	29924113	7	5	717	1	0	1	1	0	0	0	0	0	17374	1203	42	0	1017	0	WIPF3	7	29924113	Frame_Shift_Ins	INS	-	TCGA-KM-8439-01A-11D-2310-10	24522483	29924113	129214550	25	40212											
CALU	813	broad.mit.edu	37	7	128407599	128407599	+	Missense_Mutation	SNP	C	C	T			TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr7:128407599C>T	ENST00000249364.4	+	6	835	c.733C>T	c.(733-735)Cgt>Tgt	p.R245C	CALU_ENST00000449187.2_Missense_Mutation_p.R245C|CALU_ENST00000538546.1_Missense_Mutation_p.R94C|CALU_ENST00000535623.1_3'UTR|CALU_ENST00000542996.2_Missense_Mutation_p.R253C|CALU_ENST00000479257.1_Missense_Mutation_p.R253C|CALU_ENST00000535011.2_Intron	NM_001219.4	NP_001210.1	O43852	CALU_HUMAN	calumenin	245	EF-hand 5. {ECO:0000255|PROSITE- ProRule:PRU00448}.				blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)			kidney(2)|large_intestine(3)|lung(5)	10						GGATAAGAACCGTGATGGGAA	0.488																																																0													192	179	183					7																	128407599		2203	4300	6503	SO:0001583	missense	813			AF013759	CCDS5805.1, CCDS47703.1, CCDS56506.1, CCDS56507.1, CCDS56508.1	7q32	2013-01-10			ENSG00000128595	ENSG00000128595		"EF-hand domain containing"	1458	protein-coding gene	gene with protein product		603420				9598325	Standard	NM_001219		Approved		uc003vnq.3	O43852	OTTHUMG00000158274	ENST00000249364.4:c.733C>T	7.37:g.128407599C>T	ENSP00000249364:p.Arg245Cys		B3KPG9|D6QS48|D6QS49|D6QS50|D6QS51|D6QS52|D6QS53|D6QS54|D6QS55|D6QS56|D6QS57|D6QS58|D6QS59|F5H1Q9|F5H879|O60456|Q6FHB9|Q96RL3|Q9NR43	Missense_Mutation	SNP	ENST00000249364.4	37	CCDS5805.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.88|15.88	2.964695|2.964695	0.53507|0.53507	.|.	.|.	ENSG00000128595|ENSG00000128595	ENST00000493278|ENST00000542996;ENST00000538546;ENST00000249364;ENST00000449187;ENST00000479257	.|T;T;T;T;T	.|0.56103	.|0.48;0.48;0.48;0.48;0.48	5.44|5.44	4.56|4.56	0.56223|0.56223	.|EF-hand-like domain (1);	.|0.267158	.|0.39759	.|N	.|0.001271	T|T	0.48519|0.48519	0.1504|0.1504	L|L	0.34521|0.34521	1.04|1.04	0.49798|0.49798	D|D	0.99982|0.99982	.|B;P	.|0.41102	.|0.002;0.738	.|B;P	.|0.44860	.|0.001;0.462	T|T	0.51826|0.51826	-0.8656|-0.8656	5|10	.|0.62326	.|D	.|0.03	-2.8562|-2.8562	13.5218|13.5218	0.61572|0.61572	0.1568:0.8432:0.0:0.0|0.1568:0.8432:0.0:0.0	.|.	.|253;245	.|D6QS48;O43852	.|.;CALU_HUMAN	L|C	76|253;94;245;245;253	.|ENSP00000438248:R253C;ENSP00000438994:R94C;ENSP00000249364:R245C;ENSP00000408838:R245C;ENSP00000420381:R253C	.|ENSP00000249364:R245C	P|R	+|+	2|1	0|0	CALU|CALU	128194835|128194835	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	2.613000|2.613000	0.46351|0.46351	1.287000|1.287000	0.44583|0.44583	0.563000|0.563000	0.77884|0.77884	CCG|CGT		0.488	CALU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350533.1	NM_001219		T	128407599	C	T	128407599	3	4	717	1	0	0	0	0	1	0	0	0	2596	652	23	1	949	1	CALU	7	128407599	Missense_Mutation	SNP	C	TCGA-KM-8439-01A-11D-2310-10	98483486	128407599	30731064	26	40213											
IRF5	3663	ucsc.edu	37	7	128586594	128586594	+	Missense_Mutation	SNP	A	A	G			TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr7:128586594A>G	ENST00000402030.2	+	4	497	c.425A>G	c.(424-426)gAg>gGg	p.E142G	IRF5_ENST00000249375.4_Missense_Mutation_p.E142G|IRF5_ENST00000477535.1_Missense_Mutation_p.E142G|IRF5_ENST00000357234.5_Missense_Mutation_p.E142G|IRF5_ENST00000473745.1_Missense_Mutation_p.E142G	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	142	Poly-Glu.				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)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						GGTGCAGGAGAGGAGGAGGAA	0.577																																																0													54	46	49					7																	128586594		2203	4300	6503	SO:0001583	missense	3663				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.425A>G	7.37:g.128586594A>G	ENSP00000385352:p.Glu142Gly		A4D1J8|A8DUA8|A8DUA9|E7EQ16|E7EW54|Q1A7B4|Q64GA9|Q64GB1|Q64GB2|Q6RCM8|Q9BQF0	Missense_Mutation	SNP	ENST00000402030.2	37	CCDS5808.1	.	.	.	.	.	.	.	.	.	.	A	16.71	3.200015	0.58126	.	.	ENSG00000128604	ENST00000489702;ENST00000357234;ENST00000477535;ENST00000430204;ENST00000402030;ENST00000249375;ENST00000453794;ENST00000473745;ENST00000412326	D;D;D;D;D;D	0.98192	-4.78;-4.45;-4.48;-4.41;-4.41;-4.41	5.31	5.31	0.75309	.	1.083730	0.07191	N	0.855684	D	0.98570	0.9522	L	0.56769	1.78	0.35070	D	0.762351	B;D;B;D;D;B	0.76494	0.049;0.999;0.013;0.998;0.998;0.007	B;D;B;D;D;B	0.78314	0.039;0.991;0.01;0.991;0.979;0.006	D	0.95955	0.8957	10	0.37606	T	0.19	2.376	11.9478	0.52938	1.0:0.0:0.0:0.0	.	142;142;142;142;142;142	B4DLN8;F5H3H8;E7EW54;E9PC81;Q13568;Q13568-2	.;.;.;.;IRF5_HUMAN;.	G	142	ENSP00000418037:E142G;ENSP00000349770:E142G;ENSP00000419950:E142G;ENSP00000385352:E142G;ENSP00000249375:E142G;ENSP00000419149:E142G	ENSP00000249375:E142G	E	+	2	0	IRF5	128373830	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	1.674000	0.37544	2.134000	0.65973	0.533000	0.62120	GAG		0.577	IRF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350934.1	NM_001098627		G	128586594	A	G	128586594	3	3	717	1	0	0	0	0	1	0	0	0	7835	304	11	3	435	3	IRF5	7	128586594	Missense_Mutation	SNP	A	TCGA-KM-8439-01A-11D-2310-10	178995	128586594	30552069	27	40214											
CNTLN	54875	broad.mit.edu	37	9	17409364	17409364	+	Missense_Mutation	SNP	A	A	G			TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr9:17409364A>G	ENST00000380647.3	+	16	2773	c.2689A>G	c.(2689-2691)Acg>Gcg	p.T897A	CNTLN_ENST00000262360.5_Missense_Mutation_p.T897A|CNTLN_ENST00000425824.1_Missense_Mutation_p.T897A			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	897					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		AATAAGTCCTACGGAAGATGG	0.358																																																0													114	114	114					9																	17409364		1817	4080	5897	SO:0001583	missense	54875			AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"chromosome 9 open reading frame 101", "chromosome 9 open reading frame 39"	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.2689A>G	9.37:g.17409364A>G	ENSP00000370021:p.Thr897Ala		A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	ENST00000380647.3	37	CCDS43789.1	.	.	.	.	.	.	.	.	.	.	A	5.196	0.221771	0.09863	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360	T;T;T	0.17854	2.25;2.25;2.51	5.39	-0.865	0.10662	.	.	.	.	.	T	0.11665	0.0284	L	0.40543	1.245	0.09310	N	1	B;B;B	0.22604	0.072;0.0;0.0	B;B;B	0.24541	0.054;0.001;0.001	T	0.43163	-0.9408	9	0.08837	T	0.75	.	8.7416	0.34560	0.5684:0.0:0.4316:0.0	.	897;897;897	Q9NXG0;C9J1F9;Q9NXG0-2	CNTLN_HUMAN;.;.	A	897	ENSP00000370021:T897A;ENSP00000392798:T897A;ENSP00000262360:T897A	ENSP00000262360:T897A	T	+	1	0	CNTLN	17399364	0.014000	0.17966	0.056000	0.19401	0.994000	0.84299	0.053000	0.14184	-0.319000	0.08652	0.482000	0.46254	ACG		0.358	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	NM_017738		G	17409364	A	G	17409364	3	3	717	1	0	0	0	0	1	0	0	0	3641	391	14	3	2781	3	CNTLN	9	17409364	Missense_Mutation	SNP	A	TCGA-KM-8439-01A-11D-2310-10		17409364	123804067	28	40215											
HSPA14	51182	broad.mit.edu	37	10	14890641	14890641	+	Silent	SNP	G	G	A	rs550196167	byFrequency	TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr10:14890641G>A	ENST00000378372.3	+	4	494	c.255G>A	c.(253-255)gcG>gcA	p.A85A		NM_016299.2	NP_057383.2	Q0VDF9	HSP7E_HUMAN	heat shock 70kDa protein 14	85			A -> V (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		'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						AATACATCGCGGAAAGTAAAT	0.328													G|||	4	0.000798722	0.0	0.0	5008	,	,		15226	0.0		0.0	False		,,,				2504	0.0041															0													107	94	99					10																	14890641		2203	4299	6502	SO:0001819	synonymous_variant	51182			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.255G>A	10.37:g.14890641G>A			A8K8F8|B0YIY9|Q9P0X2|Q9UI07	Silent	SNP	ENST00000378372.3	37	CCDS7103.1	.	.	.	.	.	.	.	.	.	.	G	7.783	0.710013	0.15239	.	.	ENSG00000187522	ENST00000441647	.	.	.	5.89	-1.69	0.08186	.	.	.	.	.	T	0.39279	0.1072	.	.	.	0.43885	D	0.996505	.	.	.	.	.	.	T	0.28776	-1.0033	4	.	.	.	1.9634	1.2653	0.02010	0.47:0.1264:0.1488:0.2548	.	.	.	.	Q	74	.	.	R	+	2	0	HSPA14	14930647	0.001000	0.12720	0.105000	0.21289	0.995000	0.86356	-0.269000	0.08596	-0.193000	0.10415	0.655000	0.94253	CGG		0.328	HSPA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046910.1	NM_016299		A	14890641	G	A	14890641	2	1	717	1	0	0	0	0	0	0	0	1	7409	1103	39	1		1	HSPA14	10	14890641	Silent	SNP	G	TCGA-KM-8439-01A-11D-2310-10		14890641	120644106	29	40216											
ECHS1	1892	hgsc.bcm.edu	37	10	135186806	135186806	+	Missense_Mutation	SNP	A	A	G	rs10466126	byFrequency	TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr10:135186806A>G	ENST00000368547.3	-	1	387	c.32T>C	c.(31-33)gTc>gCc	p.V11A	MIR3944_ENST00000581277.1_RNA	NM_004092.3	NP_004083.3	P30084	ECHM_HUMAN	enoyl CoA hydratase, short chain, 1, mitochondrial	11			V -> A (in dbSNP:rs10466126). {ECO:0000269|PubMed:8012501, ECO:0000269|PubMed:9073515}.		cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enoyl-CoA hydratase activity (GO:0004300)	p.V11A(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	10		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06)		CGGGCCGCGGACGCAGGACAG	0.731													a|||	3385	0.675919	0.2829	0.6988	5008	,	,		4830	0.9355		0.7674	False		,,,				2504	0.8292				GBM(132;1720 1771 5373 10277 21402)											1	Substitution - Missense(1)	NS(1)							ALA/VAL	1391,2679		274,843,918	9	14	12		32	-2.2	0	10	dbSNP_119	12	5886,2076		2263,1360,358	yes	missense	ECHS1	NM_004092.3	64	2537,2203,1276	GG,GA,AA		26.0739,34.1769,39.5196	benign	11/291	135186806	7277,4755	2035	3981	6016	SO:0001583	missense	1892				CCDS7681.1	10q26.2-q26.3	2010-05-04	2010-04-30		ENSG00000127884	ENSG00000127884	4.2.1.17		3151	protein-coding gene	gene with protein product		602292	"enoyl Coenzyme A hydratase, short chain, 1, mitochondrial"			8012501	Standard	NM_004092		Approved	SCEH	uc001lmu.3	P30084	OTTHUMG00000019320	ENST00000368547.3:c.32T>C	10.37:g.135186806A>G	ENSP00000357535:p.Val11Ala		O00739|Q5VWY1|Q96H54	Missense_Mutation	SNP	ENST00000368547.3	37	CCDS7681.1	1504	0.6886446886446886	143	0.29065040650406504	246	0.6795580110497238	528	0.9230769230769231	587	0.7744063324538258	a	3.615	-0.078697	0.07141	0.341769	0.739261	ENSG00000127884	ENST00000368547	T	0.61980	0.06	3.77	-2.17	0.07059	.	7.595850	0.03474	N	0.214060	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.30387	-0.9980	9	0.08179	T	0.78	.	5.2902	0.15723	0.257:0.3372:0.4058:0.0	rs10466126;rs11542964;rs17348892	11	P30084	ECHM_HUMAN	A	11	ENSP00000357535:V11A	ENSP00000357535:V11A	V	-	2	0	ECHS1	135036796	0.001000	0.12720	0.002000	0.10522	0.007000	0.05969	-0.071000	0.11505	-0.255000	0.09486	-0.857000	0.03018	GTC		0.731	ECHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051156.1			G	135186806	A	G	135186806	3	3	717	1	0	0	0	0	1	0	0	0	4898	275	10	3	872	3	ECHS1	10	135186806	Missense_Mutation	SNP	A	TCGA-KM-8439-01A-11D-2310-10	120296165	135186806	347941	30	40217											
TUB	7275	broad.mit.edu;mdanderson.org;bcgsc.ca	37	11	8120345	8120345	+	Missense_Mutation	SNP	G	G	A			TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr11:8120345G>A	ENST00000299506.2	+	9	1188	c.1039G>A	c.(1039-1041)Gga>Aga	p.G347R	TUB_ENST00000305253.4_Missense_Mutation_p.G402R|TUB_ENST00000534099.1_Missense_Mutation_p.G353R	NM_177972.2	NP_813977.1	P50607	TUB_HUMAN	tubby bipartite transcription factor	347					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)		TTATGACAATGGAGTCAACCC	0.517											OREG0020732	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													167	148	155					11																	8120345		2201	4296	6497	SO:0001583	missense	7275			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.1039G>A	11.37:g.8120345G>A	ENSP00000299506:p.Gly347Arg	646	D3DQU4|O00293|Q6B007	Missense_Mutation	SNP	ENST00000299506.2	37	CCDS7787.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.884132	0.91814	.	.	ENSG00000166402	ENST00000534099;ENST00000305253;ENST00000299506	D;D;D	0.96587	-4.06;-4.06;-4.06	5.12	5.12	0.69794	Tubby, C-terminal (4);	0.000000	0.85682	D	0.000000	D	0.98356	0.9454	M	0.87547	2.89	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.99;0.998;0.998	D	0.99264	1.0891	10	0.72032	D	0.01	0.6721	18.9192	0.92518	0.0:0.0:1.0:0.0	.	353;347;402	E9PQR4;P50607;P50607-2	.;TUB_HUMAN;.	R	353;402;347	ENSP00000434400:G353R;ENSP00000305426:G402R;ENSP00000299506:G347R	ENSP00000299506:G347R	G	+	1	0	TUB	8076921	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.523000	0.85059	0.555000	0.69702	GGA		0.517	TUB-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385823.1	NM_003320		A	8120345	G	A	8120345	3	1	717	1	0	0	0	0	1	0	0	0	16747	1349	47	2	1284	2	TUB	11	8120345	Missense_Mutation	SNP	G	TCGA-KM-8439-01A-11D-2310-10		8120345	126886171	31	40218											
OR5M10	390167	broad.mit.edu	37	11	56344713	56344713	+	Missense_Mutation	SNP	A	A	T	rs140389540	byFrequency	TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr11:56344713A>T	ENST00000526812.2	-	1	550	c.485T>A	c.(484-486)cTg>cAg	p.L162Q		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	162						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(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						GTGAAAGGTCAGCAGTGTCTG	0.468													A|||	9	0.00179712	0.0068	0.0	5008	,	,		20628	0.0		0.0	False		,,,				2504	0.0															0								A	GLN/LEU	60,3982		0,60,1961	141	137	139		485	4	0.4	11	dbSNP_134	139	1,8375		0,1,4187	yes	missense	OR5M10	NM_001004741.1	113	0,61,6148	TT,TA,AA		0.0119,1.4844,0.4912	probably-damaging	162/316	56344713	61,12357	2021	4188	6209	SO:0001583	missense	390167			BK004515	CCDS53630.1	11q11	2012-08-09				ENSG00000254834		"GPCR / Class A : Olfactory receptors"	15290	protein-coding gene	gene with protein product							Standard	NM_001004741		Approved		uc001niz.1	Q6IEU7		ENST00000526812.2:c.485T>A	11.37:g.56344713A>T	ENSP00000436004:p.Leu162Gln		B9EIL9	Missense_Mutation	SNP	ENST00000526812.2	37	CCDS53630.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	A	14.64	2.594840	0.46318	0.014844	1.19E-4	ENSG00000254834	ENST00000526812	T	0.00202	8.56	4.04	4.04	0.47022	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00328	0.0010	M	0.70842	2.15	0.26437	N	0.97585	D	0.76494	0.999	D	0.78314	0.991	T	0.55159	-0.8184	9	0.32370	T	0.25	.	7.7792	0.29056	0.7875:0.2125:0.0:0.0	.	162	Q6IEU7	OR5MA_HUMAN	Q	162	ENSP00000436004:L162Q	ENSP00000436004:L162Q	L	-	2	0	OR5M10	56101289	0.000000	0.05858	0.364000	0.25888	0.012000	0.07955	0.260000	0.18424	1.816000	0.52996	0.514000	0.50259	CTG		0.468	OR5M10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391609.1	NM_001004741		T	56344713	A	T	56344713	3	4	717	1	0	0	0	0	1	0	0	0	11175	188	7	5	466	5	OR5M10	11	56344713	Missense_Mutation	SNP	A	TCGA-KM-8439-01A-11D-2310-10	48224368	56344713	78661803	32	40219											
MS4A14	84689	broad.mit.edu	37	11	60165391	60165391	+	Missense_Mutation	SNP	G	G	A	rs368053345		TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr11:60165391G>A	ENST00000300187.6	+	2	482	c.205G>A	c.(205-207)Ggt>Agt	p.G69S	MS4A14_ENST00000531783.1_Missense_Mutation_p.G69S|MS4A14_ENST00000531787.1_Intron|MS4A14_ENST00000395005.2_Missense_Mutation_p.G69S|MS4A14_ENST00000395001.1_5'UTR	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	69						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						TAATTACATCGGTTTCTCCCA	0.433													c|||	1	0.000199681	0.0	0.0	5008	,	,		20648	0.001		0.0	False		,,,				2504	0.0															0													172	155	161					11																	60165391		2203	4300	6503	SO:0001583	missense	84689			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.205G>A	11.37:g.60165391G>A	ENSP00000300187:p.Gly69Ser		E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	ENST00000300187.6	37	CCDS31569.1	.	.	.	.	.	.	.	.	.	.	c	14.63	2.593541	0.46214	.	.	ENSG00000166928	ENST00000300187;ENST00000395005;ENST00000526375;ENST00000531783	T;T;T;T	0.28255	4.66;1.62;4.66;4.66	4.73	-9.46	0.00597	.	2.873630	0.00892	N	0.002244	T	0.08758	0.0217	N	0.01874	-0.695	0.09310	N	0.999999	B;B	0.09022	0.001;0.002	B;B	0.01281	0.0;0.0	T	0.23332	-1.0191	10	0.21014	T	0.42	7.4637	2.2494	0.04040	0.1554:0.43:0.1417:0.2729	.	69;69	Q96JA4-2;Q96JA4	.;M4A14_HUMAN	S	69	ENSP00000300187:G69S;ENSP00000378453:G69S;ENSP00000435764:G69S;ENSP00000433761:G69S	ENSP00000300187:G69S	G	+	1	0	MS4A14	59921967	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-2.184000	0.01254	-2.949000	0.00294	-2.276000	0.00273	GGT		0.433	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2			A	60165391	G	A	60165391	3	1	717	1	0	0	0	0	1	0	0	0	9860	1116	39	1	211	1	MS4A14	11	60165391	Missense_Mutation	SNP	G	TCGA-KM-8439-01A-11D-2310-10	3820678	60165391	74841125	33	40220											
PLCB3	5331	mdanderson.org	37	11	64026685	64026685	+	Silent	SNP	C	C	T	rs28395882	byFrequency	TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr11:64026685C>T	ENST00000540288.1	+	13	1597	c.1494C>T	c.(1492-1494)tcC>tcT	p.S498S	PLCB3_ENST00000279230.6_Silent_p.S498S|PLCB3_ENST00000325234.5_Silent_p.S431S	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	498					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						GCGAGAGCTCCGCGGCCACCG	0.706													C|||	865	0.172724	0.0234	0.147	5008	,	,		12937	0.1339		0.3012	False		,,,				2504	0.3006															0								C	,	242,4066		8,226,1920	9	11	11		1494,1293	-9.8	0	11	dbSNP_126	11	2553,5907		423,1707,2100	no	coding-synonymous,coding-synonymous	PLCB3	NM_000932.2,NM_001184883.1	,	431,1933,4020	TT,TC,CC		30.1773,5.6175,21.8907	,	498/1235,431/1168	64026685	2795,9973	2154	4230	6384	SO:0001819	synonymous_variant	5331			Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.1494C>T	11.37:g.64026685C>T			A5PKZ6|G5E960|Q8N1A4	Silent	SNP	ENST00000540288.1	37	CCDS8064.1																																																																																				0.706	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396405.1			T	64026685	C	T	64026685	2	4	717	1	0	0	0	0	0	0	0	1	12031	639	23	1		1	PLCB3	11	64026685	Silent	SNP	C	TCGA-KM-8439-01A-11D-2310-10	3861294	64026685	70979831	34	40221											
GOLGA3	2802	broad.mit.edu	37	12	133357472	133357472	+	Missense_Mutation	SNP	T	T	C			TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr12:133357472T>C	ENST00000450791.2	-	17	3677	c.3494A>G	c.(3493-3495)gAg>gGg	p.E1165G	GOLGA3_ENST00000204726.3_Missense_Mutation_p.E1165G|GOLGA3_ENST00000456883.2_Missense_Mutation_p.E1165G			Q08378	GOGA3_HUMAN	golgin A3	1165					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)		GCGATCCTCCTCTTCTTTGCG	0.542																																																0													159	127	138					12																	133357472		2203	4300	6503	SO:0001583	missense	2802			AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"SY2/SY10 protein", "Golgi complex-associated protein of 170 kD"	602581	"golgi autoantigen, golgin subfamily a, 3"			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.3494A>G	12.37:g.133357472T>C	ENSP00000410378:p.Glu1165Gly		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	T	28.6	4.938390	0.92526	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883	T;T;T	0.31769	1.48;1.48;1.48	5.61	5.61	0.85477	.	0.044464	0.85682	D	0.000000	T	0.54431	0.1858	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.55811	-0.8082	10	0.54805	T	0.06	.	15.4487	0.75257	0.0:0.0:0.0:1.0	.	1165;1165	Q08378-2;Q08378	.;GOGA3_HUMAN	G	1165	ENSP00000204726:E1165G;ENSP00000410378:E1165G;ENSP00000409303:E1165G	ENSP00000204726:E1165G	E	-	2	0	GOLGA3	131867545	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.487000	0.81328	2.123000	0.65237	0.523000	0.50628	GAG		0.542	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		C	133357472	T	C	133357472	3	2	717	1	0	0	0	0	1	0	0	0	6556	1551	54	3	1030	3	GOLGA3	12	133357472	Missense_Mutation	SNP	T	TCGA-KM-8439-01A-11D-2310-10		133357472	494423	35	40222											
TPP2	7174	broad.mit.edu	37	13	103328696	103328696	+	Silent	SNP	A	A	G			TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr13:103328696A>G	ENST00000376065.4	+	28	3627	c.3591A>G	c.(3589-3591)agA>agG	p.R1197R	TPP2_ENST00000376052.3_Silent_p.R1210R|TPP2_ENST00000466153.1_3'UTR	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	1197					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)					TGTATGGGAGAGGCCTTAAAT	0.264																																																0													61	62	62					13																	103328696		2200	4296	6496	SO:0001819	synonymous_variant	7174			M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	3.4.14.10		12016	protein-coding gene	gene with protein product		190470				1670990	Standard	NM_003291		Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376065.4:c.3591A>G	13.37:g.103328696A>G			Q5VZU8	Silent	SNP	ENST00000376065.4	37	CCDS9502.1																																																																																				0.264	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045683.2			G	103328696	A	G	103328696	2	3	717	1	0	0	0	0	0	0	0	1	16417	301	11	3		3	TPP2	13	103328696	Silent	SNP	A	TCGA-KM-8439-01A-11D-2310-10		103328696	11841182	36	40223											
ZNF629	23361	broad.mit.edu;mdanderson.org;bcgsc.ca	37	16	30794552	30794552	+	Missense_Mutation	SNP	C	C	T			TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr16:30794552C>T	ENST00000262525.4	-	3	1304	c.1097G>A	c.(1096-1098)cGg>cAg	p.R366Q		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	366					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)			CAGGTGAGTCCGCTGGTGCTT	0.662																																																0													33	34	34					16																	30794552		2197	4300	6497	SO:0001583	missense	23361			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.1097G>A	16.37:g.30794552C>T	ENSP00000262525:p.Arg366Gln		Q15938	Missense_Mutation	SNP	ENST00000262525.4	37	CCDS45463.1	.	.	.	.	.	.	.	.	.	.	C	19.74	3.883279	0.72410	.	.	ENSG00000102870	ENST00000262525	T	0.24723	1.84	5.59	5.59	0.84812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42294	D	0.000729	T	0.50650	0.1628	M	0.67397	2.05	0.35010	D	0.756778	D	0.76494	0.999	D	0.69479	0.964	T	0.61515	-0.7047	10	0.72032	D	0.01	-41.13	18.352	0.90342	0.0:1.0:0.0:0.0	.	366	Q9UEG4	ZN629_HUMAN	Q	366	ENSP00000262525:R366Q	ENSP00000262525:R366Q	R	-	2	0	ZNF629	30702053	0.000000	0.05858	0.991000	0.47740	0.994000	0.84299	0.578000	0.23773	2.629000	0.89072	0.561000	0.74099	CGG		0.662	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434291.1	NM_015309		T	30794552	C	T	30794552	3	4	717	1	0	0	0	0	1	0	0	0	18058	652	23	1	1516	1	ZNF629	16	30794552	Missense_Mutation	SNP	C	TCGA-KM-8439-01A-11D-2310-10		30794552	59560201	37	40224											
CHST6	4166	broad.mit.edu	37	16	75512651	75512651	+	Missense_Mutation	SNP	C	C	T			TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr16:75512651C>T	ENST00000332272.4	-	3	1255	c.1076G>A	c.(1075-1077)cGg>cAg	p.R359Q	RP11-77K12.4_ENST00000530512.3_RNA|CHST6_ENST00000390664.2_Missense_Mutation_p.R359Q	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	359					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GTACACAGGCCGGTAGCCCAG	0.662																																																0													53	52	52					16																	75512651		2198	4300	6498	SO:0001583	missense	4166			AF280086	CCDS10918.1	16q22	2008-02-05			ENSG00000183196	ENSG00000183196		"Sulfotransferases, membrane-bound"	6938	protein-coding gene	gene with protein product		605294		MCDC1		8644739, 11017086	Standard	NM_021615		Approved		uc002fef.3	Q9GZX3	OTTHUMG00000137612	ENST00000332272.4:c.1076G>A	16.37:g.75512651C>T	ENSP00000328983:p.Arg359Gln		D3DUK3	Missense_Mutation	SNP	ENST00000332272.4	37	CCDS10918.1	.	.	.	.	.	.	.	.	.	.	C	11.45	1.643316	0.29246	.	.	ENSG00000183196	ENST00000332272;ENST00000390664	D;D	0.99741	-6.6;-6.6	4.8	3.85	0.44370	.	0.286130	0.34676	N	0.003771	D	0.98080	0.9367	L	0.50919	1.6	0.32964	D	0.521424	P	0.35411	0.5	B	0.23150	0.044	D	0.99974	1.2126	10	0.26408	T	0.33	.	7.3925	0.26917	0.0:0.8004:0.0:0.1996	.	359	Q9GZX3	CHST6_HUMAN	Q	359	ENSP00000328983:R359Q;ENSP00000375079:R359Q	ENSP00000328983:R359Q	R	-	2	0	CHST6	74070152	0.978000	0.34361	0.995000	0.50966	0.593000	0.36681	1.106000	0.31098	1.021000	0.39600	0.591000	0.81541	CGG		0.662	CHST6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435478.1	NM_021615		T	75512651	C	T	75512651	3	4	717	1	0	0	0	0	1	0	0	0	3410	652	23	1	115	1	CHST6	16	75512651	Missense_Mutation	SNP	C	TCGA-KM-8439-01A-11D-2310-10	44718099	75512651	14842102	38	40225											
GUCY2D	3000	mdanderson.org	37	17	7906519	7906519	+	Missense_Mutation	SNP	G	G	T	rs61749665	byFrequency	TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr17:7906519G>T	ENST00000254854.4	+	2	304	c.154G>T	c.(154-156)Gcc>Tcc	p.A52S		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	52			A -> S (in LCA1; unknown pathological significance; dbSNP:rs61749665). {ECO:0000269|PubMed:21602930, ECO:0000269|PubMed:8944027}.		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)			skin(1)	1		Prostate(122;0.157)				cgccctctccgccgTGTTCAC	0.776													G|||	2083	0.415935	0.1369	0.4107	5008	,	,		7307	0.6935		0.327	False		,,,				2504	0.6022															0								G	SER/ALA	396,2736		31,334,1201	2	2	2	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	154	0.2	0	17	dbSNP_129	2	1601,4981		200,1201,1890	no	missense	GUCY2D	NM_000180.3	99	231,1535,3091	TT,TG,GG		24.3239,12.6437,20.558	benign	52/1104	7906519	1997,7717	1566	3291	4857	SO:0001583	missense	3000			L26921	CCDS11127.1	17p13.1	2013-06-06			ENSG00000132518	ENSG00000132518			4689	protein-coding gene	gene with protein product		600179	"cone rod dystrophy 6"	CORD6, LCA, GUC2D, GUC1A4		1356371, 12552567	Standard	NM_000180		Approved	retGC, RETGC-1, ROS-GC1, CYGD, LCA1	uc002gjt.2	Q02846	OTTHUMG00000108169	ENST00000254854.4:c.154G>T	17.37:g.7906519G>T	ENSP00000254854:p.Ala52Ser		Q6LEA7	Missense_Mutation	SNP	ENST00000254854.4	37	CCDS11127.1	823	0.3768315018315018	61	0.12398373983739837	132	0.36464088397790057	383	0.6695804195804196	247	0.3258575197889182	G	10.96	1.499163	0.26861	0.126437	0.243239	ENSG00000132518	ENST00000254854	D	0.83075	-1.68	4.65	0.187	0.15109	.	0.608923	0.13562	N	0.378720	T	0.00012	0.0000	M	0.65498	2.005	0.80722	P	0.0	B	0.27117	0.168	B	0.21546	0.035	T	0.48681	-0.9014	9	0.09590	T	0.72	.	3.8844	0.09091	0.2473:0.0:0.4661:0.2866	rs61749665	52	Q02846	GUC2D_HUMAN	S	52	ENSP00000254854:A52S	ENSP00000254854:A52S	A	+	1	0	GUCY2D	7847244	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.039000	0.12124	-0.193000	0.10415	-0.188000	0.12872	GCC		0.776	GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226973.2			T	7906519	G	T	7906519	3	4	717	1	0	0	0	0	1	0	0	0	6899	1087	38	4	156	4	GUCY2D	17	7906519	Missense_Mutation	SNP	G	TCGA-KM-8439-01A-11D-2310-10		7906519	73288691	39	40226											
WNT3	7473	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	17	44847153	44847153	+	Missense_Mutation	SNP	C	C	T			TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr17:44847153C>T	ENST00000225512.5	-	3	746	c.584G>A	c.(583-585)cGc>cAc	p.R195H		NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	wingless-type MMTV integration site family, member 3	195					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)			GCTCACCGTGCGGCCCGCCTC	0.701																																																0													30	29	29					17																	44847153		2201	4299	6500	SO:0001583	missense	7473			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.584G>A	17.37:g.44847153C>T	ENSP00000225512:p.Arg195His		Q2M237|Q9H1J9	Missense_Mutation	SNP	ENST00000225512.5	37	CCDS11505.1	.	.	.	.	.	.	.	.	.	.	C	35	5.452269	0.96223	.	.	ENSG00000108379	ENST00000225512	D	0.81739	-1.53	4.49	4.49	0.54785	.	0.000000	0.85682	D	0.000000	D	0.93048	0.7787	H	0.97465	4.01	0.80722	D	1	D	0.76494	0.999	D	0.66602	0.945	D	0.95710	0.8757	10	0.87932	D	0	.	17.3636	0.87358	0.0:1.0:0.0:0.0	.	195	P56703	WNT3_HUMAN	H	195	ENSP00000225512:R195H	ENSP00000225512:R195H	R	-	2	0	WNT3	42202321	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	7.608000	0.82898	2.330000	0.79161	0.561000	0.74099	CGC		0.701	WNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440427.1	NM_030753		T	44847153	C	T	44847153	3	4	717	1	0	0	0	0	1	0	0	0	17393	768	27	1	491	1	WNT3	17	44847153	Missense_Mutation	SNP	C	TCGA-KM-8439-01A-11D-2310-10	36940634	44847153	36348057	40	40227											
LAMA3	3909	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	18	21404467	21404467	+	Missense_Mutation	SNP	G	G	T			TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr18:21404467G>T	ENST00000313654.9	+	21	2750	c.2509G>T	c.(2509-2511)Gac>Tac	p.D837Y	LAMA3_ENST00000399516.3_Missense_Mutation_p.D837Y	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	837	Domain IV 1 (domain IV B).				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)	p.D837N(1)		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)					TGGTTTTGCAGACCCATTTTC	0.458																																																1	Substitution - Missense(1)	lung(1)											128	127	127					18																	21404467		1909	4116	6025	SO:0001583	missense	3909			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"Laminins"	6483	protein-coding gene	gene with protein product		600805	"laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.2509G>T	18.37:g.21404467G>T	ENSP00000324532:p.Asp837Tyr		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.981565	0.53827	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669	T;T	0.18502	2.22;2.21	5.95	4.13	0.48395	.	.	.	.	.	T	0.16557	0.0398	L	0.36672	1.1	0.80722	D	1	P;P	0.46706	0.818;0.883	B;B	0.39876	0.23;0.312	T	0.01416	-1.1360	9	0.87932	D	0	.	16.6665	0.85254	0.0:0.2449:0.7551:0.0	.	837;837	Q6VU67;Q16787	.;LAMA3_HUMAN	Y	837;837;835	ENSP00000324532:D837Y;ENSP00000382432:D837Y	ENSP00000324532:D837Y	D	+	1	0	LAMA3	19658465	1.000000	0.71417	0.707000	0.30419	0.968000	0.65278	4.162000	0.58177	0.814000	0.34374	0.655000	0.94253	GAC		0.458	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		T	21404467	G	T	21404467	3	4	717	1	0	0	0	0	1	0	0	0	8609	942	33	4	2591	4	LAMA3	18	21404467	Missense_Mutation	SNP	G	TCGA-KM-8439-01A-11D-2310-10		21404467	56672781	41	40228											
TSHZ1	10194	broad.mit.edu	37	18	72997839	72997839	+	Silent	SNP	A	A	C			TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr18:72997839A>C	ENST00000580243.1	+	2	825	c.477A>C	c.(475-477)acA>acC	p.T159T	TSHZ1_ENST00000322038.5_Silent_p.T114T			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	159	Ser-rich.				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)		ccacccccacaccccccacct	0.642																																																0													8	9	9					18																	72997839		2191	4276	6467	SO:0001819	synonymous_variant	10194			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.477A>C	18.37:g.72997839A>C			O60534|Q4LE29|Q53EU4	Silent	SNP	ENST00000580243.1	37																																																																																					0.642	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786		C	72997839	A	C	72997839	2	2	717	1	0	0	0	0	0	0	0	1	16628	146	6	5		5	TSHZ1	18	72997839	Silent	SNP	A	TCGA-KM-8439-01A-11D-2310-10	51593372	72997839	5079409	42	40229											
UPF1	5976	ucsc.edu	37	19	18976950	18976950	+	Missense_Mutation	SNP	T	T	G			TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr19:18976950T>G	ENST00000599848.1	+	23	3577	c.3368T>G	c.(3367-3369)gTg>gGg	p.V1123G	UPF1_ENST00000262803.5_Missense_Mutation_p.V1112G			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	1123	Gln/Ser-rich.				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						CATGGCGGGGTGACGGGGCTG	0.617																																																0													38	34	35					19																	18976950		2203	4300	6503	SO:0001583	missense	5976			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.3368T>G	19.37:g.18976950T>G	ENSP00000470142:p.Val1123Gly		O00239|O43343|Q86Z25|Q92842	Missense_Mutation	SNP	ENST00000599848.1	37		.	.	.	.	.	.	.	.	.	.	t	19.56	3.850660	0.71719	.	.	ENSG00000005007	ENST00000262803	D	0.90676	-2.71	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.79811	0.4510	N	0.08118	0	0.80722	D	1	P;P	0.38167	0.487;0.621	B;B	0.34385	0.088;0.181	T	0.80790	-0.1225	10	0.34782	T	0.22	-33.7285	13.4981	0.61438	0.0:0.0:0.0:1.0	.	1123;1112	Q92900;Q92900-2	RENT1_HUMAN;.	G	1112	ENSP00000262803:V1112G	ENSP00000262803:V1112G	V	+	2	0	UPF1	18837950	1.000000	0.71417	0.996000	0.52242	0.966000	0.64601	7.680000	0.84062	1.883000	0.54544	0.398000	0.26397	GTG		0.617	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1	NM_002911		G	18976950	T	G	18976950	3	3	717	1	0	0	0	0	1	0	0	0	17008	1696	59	5	3425	5	UPF1	19	18976950	Missense_Mutation	SNP	T	TCGA-KM-8439-01A-11D-2310-10		18976950	40152033	43	40230											
SOX12	6666	mdanderson.org	37	20	307249	307249	+	Silent	SNP	G	G	A	rs147752920|rs532036846	byFrequency	TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr20:307249G>A	ENST00000342665.2	+	1	1011	c.681G>A	c.(679-681)ccG>ccA	p.P227P	SOX12_ENST00000544632.1_Silent_p.P227P|RP5-1103G7.4_ENST00000414676.1_RNA|RP5-1103G7.4_ENST00000442637.1_RNA	NM_006943.2	NP_008874.2	O15370	SOX12_HUMAN	SRY (sex determining region Y)-box 12	227	Asp/Glu-rich (acidic).|Poly-Glu.				cell fate commitment (GO:0045165)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein-DNA complex assembly (GO:0065004)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord development (GO:0021510)	nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	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)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		all_cancers(10;0.000331)|Lung NSC(37;0.0496)|all_lung(30;0.0831)|all_epithelial(17;0.0868)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			acgaggagccggaggaagagg	0.756													G|||	11	0.00219649	0.0	0.0	5008	,	,		9459	0.0		0.0109	False		,,,				2504	0.0															0													8	6	7					20																	307249		1920	3767	5687	SO:0001819	synonymous_variant	6666			U35612	CCDS12995.1	20p13	2008-07-28	2002-07-22	2002-07-26	ENSG00000177732	ENSG00000177732		"SRY (sex determining region Y)-boxes"	11198	protein-coding gene	gene with protein product		601947	"SRY (sex determining region Y)-box 22"	SOX22		9215677	Standard	NM_006943		Approved		uc002wdh.4	O15370	OTTHUMG00000031623	ENST00000342665.2:c.681G>A	20.37:g.307249G>A			Q5D038|Q9NUD4	Silent	SNP	ENST00000342665.2	37	CCDS12995.1																																																																																				0.756	SOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077435.2	NM_006943		A	307249	G	A	307249	2	1	717	1	0	0	0	0	0	0	0	1	14949	1103	39	1		1	SOX12	20	307249	Silent	SNP	G	TCGA-KM-8439-01A-11D-2310-10		307249	62718271	44	40231											
GDF5	8200	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	20	34021967	34021967	+	Missense_Mutation	SNP	C	C	T			TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr20:34021967C>T	ENST00000374372.1	-	4	1749	c.1246G>A	c.(1246-1248)Gac>Aac	p.D416N	GDF5OS_ENST00000374375.1_Missense_Mutation_p.S4L|GDF5_ENST00000374369.3_Missense_Mutation_p.D416N			P43026	GDF5_HUMAN	growth differentiation factor 5	416					cell-cell signaling (GO:0007267)|chondrocyte differentiation (GO:0002062)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix organization (GO:0030198)|forelimb morphogenesis (GO:0035136)|growth (GO:0040007)|hindlimb morphogenesis (GO:0035137)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuron differentiation (GO:0045666)|regulation of multicellular organism growth (GO:0040014)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			ATGATCCAGTCGTCCCAGCCC	0.602																																																0													127	110	116					20																	34021967		2203	4300	6503	SO:0001583	missense	8200			X80915	CCDS13254.1	20q11.2	2008-05-22	2007-04-12		ENSG00000125965	ENSG00000125965			4220	protein-coding gene	gene with protein product	"cartilage-derived morphogenetic protein-1"	601146				9288091, 9288098	Standard	NM_000557		Approved	CDMP1, BMP14	uc002xck.1	P43026	OTTHUMG00000032341	ENST00000374372.1:c.1246G>A	20.37:g.34021967C>T	ENSP00000363492:p.Asp416Asn		E1P5Q2|Q96SB1	Missense_Mutation	SNP	ENST00000374372.1	37	CCDS13254.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.7|25.7	4.664367|4.664367	0.88251|0.88251	.|.	.|.	ENSG00000125965|ENSG00000204183	ENST00000374369;ENST00000374372|ENST00000374375	D;D|.	0.89343|.	-2.5;-2.5|.	4.4|4.4	4.4|4.4	0.53042|0.53042	Transforming growth factor-beta, C-terminal (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74604|0.74604	0.3738|0.3738	M|M	0.69248|0.69248	2.105|2.105	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|T	0.78909|0.78909	-0.2018|-0.2018	10|6	0.87932|0.87932	D|D	0|0	.|.	17.1668|17.1668	0.86818|0.86818	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	416;416|.	F1T0J1;P43026|.	.;GDF5_HUMAN|.	N|L	416|4	ENSP00000363489:D416N;ENSP00000363492:D416N|.	ENSP00000363489:D416N|ENSP00000363495:S4L	D|S	-|+	1|2	0|0	GDF5|GDF5OS	33485381|33485381	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.997000|0.997000	0.91878|0.91878	7.651000|7.651000	0.83577|0.83577	2.266000|2.266000	0.75297|0.75297	0.462000|0.462000	0.41574|0.41574	GAC|TCG		0.602	GDF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078875.2			T	34021967	C	T	34021967	3	4	717	1	0	0	0	0	1	0	0	0	6318	884	31	1	263	1	GDF5	20	34021967	Missense_Mutation	SNP	C	TCGA-KM-8439-01A-11D-2310-10	33714718	34021967	29003553	45	40232											
PKDREJ	10343	mdanderson.org;bcgsc.ca	37	22	46656278	46656278	+	Missense_Mutation	SNP	G	G	A	rs117787407	byFrequency	TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr22:46656278G>A	ENST00000253255.5	-	1	2941	c.2942C>T	c.(2941-2943)aCg>aTg	p.T981M		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	981					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)		CCCACCTGTCGTCTTCTTCAA	0.483													G|||	3	0.000599042	0.0	0.0	5008	,	,		22339	0.0		0.003	False		,,,				2504	0.0															0								G	MET/THR	0,4406		0,0,2203	148	143	145		2942	5.2	0.1	22	dbSNP_132	145	1,8599	1.2+/-3.3	0,1,4299	yes	missense	PKDREJ	NM_006071.1	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	981/2254	46656278	1,13005	2203	4300	6503	SO:0001583	missense	10343			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.2942C>T	22.37:g.46656278G>A	ENSP00000253255:p.Thr981Met		B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	CCDS14073.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	G	19.28	3.796581	0.70567	0.0	1.16E-4	ENSG00000130943	ENST00000253255	T	0.54279	0.58	5.18	5.18	0.71444	.	0.000000	0.64402	D	0.000006	T	0.71600	0.3359	M	0.65498	2.005	0.34984	D	0.754398	D	0.89917	1.0	D	0.77004	0.989	T	0.79455	-0.1796	10	0.66056	D	0.02	-18.7004	18.0551	0.89362	0.0:0.0:1.0:0.0	.	981	Q9NTG1	PKDRE_HUMAN	M	981	ENSP00000253255:T981M	ENSP00000253255:T981M	T	-	2	0	PKDREJ	45034942	0.993000	0.37304	0.108000	0.21378	0.082000	0.17680	3.927000	0.56499	2.598000	0.87819	0.655000	0.94253	ACG		0.483	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		A	46656278	G	A	46656278	3	1	717	1	0	0	0	0	1	0	0	0	11972	1145	40	1	3823	1	PKDREJ	22	46656278	Missense_Mutation	SNP	G	TCGA-KM-8439-01A-11D-2310-10		46656278	4648288	46	40233											
CR1	1378	mdanderson.org	37	1	207787831	207787831	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr1:207787831G>T	ENST00000367049.4	+	40	6658	c.6658G>T	c.(6658-6660)Gaa>Taa	p.E2220*	CR1_ENST00000400960.2_Nonsense_Mutation_p.E1770*|CR1_ENST00000367051.1_Nonsense_Mutation_p.E1770*|CR1_ENST00000367053.1_Nonsense_Mutation_p.E1770*|CR1_ENST00000367052.1_Nonsense_Mutation_p.E1770*	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1770					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)	p.E2220*(6)|p.E1775*(6)		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						TCCAGTGTGTGAACGTGAGTA	0.408																																																12	Substitution - Nonsense(12)	kidney(8)|endometrium(4)											131	122	125					1																	207787831		1887	4127	6014	SO:0001587	stop_gained	1378			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.6658G>T	1.37:g.207787831G>T	ENSP00000356016:p.Glu2220*		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Nonsense_Mutation	SNP	ENST00000367049.4	37	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	G	45	12.061806	0.99632	.	.	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000367049	.	.	.	4.29	4.29	0.51040	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	12.9543	0.58418	0.0:0.0:1.0:0.0	.	.	.	.	X	1770;1770;1770;1770;2220	.	ENSP00000356016:E2220X	E	+	1	0	CR1	205854454	1.000000	0.71417	0.999000	0.59377	0.893000	0.52053	2.536000	0.45693	2.316000	0.78162	0.436000	0.28706	GAA		0.408	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		T	207787831	G	T	207787831	4	4	718	1	0	0	0	0	0	1	0	0	3842	1291	45	4	6816	4	CR1	1	207787831	Nonsense_Mutation	SNP	G	TCGA-KM-8440-01A-11D-2310-10		207787831	41462790	1	40234											
EXOC8	149371	ucsc.edu;bcgsc.ca	37	1	231473244	231473244	+	Missense_Mutation	SNP	T	T	C			TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr1:231473244T>C	ENST00000360394.2	-	1	334	c.248A>G	c.(247-249)gAg>gGg	p.E83G	EXOC8_ENST00000366645.1_Missense_Mutation_p.E79G|SPRTN_ENST00000008440.9_5'Flank|SPRTN_ENST00000295050.7_5'Flank|SPRTN_ENST00000391858.4_5'UTR	NM_175876.3	NP_787072.2	Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	83					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)				CTGGTACATCTCGCTCTCCAG	0.637																																																0													57	47	50					1																	231473244		2203	4300	6503	SO:0001583	missense	149371			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.248A>G	1.37:g.231473244T>C	ENSP00000353564:p.Glu83Gly		B3KU33|Q5TE82	Missense_Mutation	SNP	ENST00000360394.2	37	CCDS1593.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.095866	0.76870	.	.	ENSG00000116903	ENST00000360394;ENST00000366645	D;D	0.84660	-1.88;-1.88	5.78	4.59	0.56863	.	0.053552	0.64402	D	0.000001	D	0.92198	0.7526	M	0.87269	2.87	0.80722	D	1	D	0.69078	0.997	D	0.68483	0.958	D	0.93047	0.6462	10	0.62326	D	0.03	-27.3345	12.6391	0.56698	0.0:0.0:0.1379:0.8621	.	83	Q8IYI6	EXOC8_HUMAN	G	83;79	ENSP00000353564:E83G;ENSP00000355605:E79G	ENSP00000353564:E83G	E	-	2	0	EXOC8	229539867	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.049000	0.71053	2.198000	0.70561	0.528000	0.53228	GAG		0.637	EXOC8-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_175876		C	231473244	T	C	231473244	3	2	718	1	0	0	0	0	1	0	0	0	5313	1551	54	3	1933	3	EXOC8	1	231473244	Missense_Mutation	SNP	T	TCGA-KM-8440-01A-11D-2310-10	23685413	231473244	17777377	2	40235											
BIRC6	57448	broad.mit.edu;mdanderson.org	37	2	32694461	32694461	+	Splice_Site	SNP	A	A	G			TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr2:32694461A>G	ENST00000421745.2	+	30	6261		c.e30-1			NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6						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)					TTCTTGTAATAGGACACTCTG	0.368																																					Pancreas(94;175 1509 16028 18060 45422)											0													82	80	81					2																	32694461		2203	4300	6503	SO:0001630	splice_region_variant	57448			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"Baculoviral IAP repeat containing", "Ubiquitin-conjugating enzymes E2"	13516	protein-coding gene	gene with protein product	"apollon"	605638	"baculoviral IAP repeat-containing 6"			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.6128-1A>G	2.37:g.32694461A>G			Q9ULD1	Splice_Site	SNP	ENST00000421745.2	37	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	A	23.3	4.395497	0.83011	.	.	ENSG00000115760	ENST00000421745	.	.	.	4.99	4.99	0.66335	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0416	0.71796	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BIRC6	32547965	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.287000	0.95975	2.014000	0.59158	0.477000	0.44152	.		0.368	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252	Intron	G	32694461	A	G	32694461	5	3	718	1	0	0	0	0	0	0	1	0	1438	434	15	3	6244	3	BIRC6	2	32694461	Splice_Site	SNP	A	TCGA-KM-8440-01A-11D-2310-10		32694461	210504912	3	40236											
CTNNA2	1496	broad.mit.edu;mdanderson.org	37	2	80816475	80816475	+	Missense_Mutation	SNP	A	A	T			TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr2:80816475A>T	ENST00000402739.4	+	14	2059	c.2054A>T	c.(2053-2055)gAg>gTg	p.E685V	AC008067.2_ENST00000595478.1_RNA|AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000541047.1_Missense_Mutation_p.E685V|CTNNA2_ENST00000540488.1_Missense_Mutation_p.E685V|CTNNA2_ENST00000496558.1_Missense_Mutation_p.E685V|CTNNA2_ENST00000361291.4_Missense_Mutation_p.E719V|AC008067.2_ENST00000596887.1_RNA|CTNNA2_ENST00000343114.3_Missense_Mutation_p.E364V|CTNNA2_ENST00000466387.1_Missense_Mutation_p.E685V|AC008067.2_ENST00000609950.1_RNA	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	685					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						AAAATAGCTGAGCAGGTGGAG	0.507																																																0													90	98	95					2																	80816475		2191	4299	6490	SO:0001583	missense	1496				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.2054A>T	2.37:g.80816475A>T	ENSP00000384638:p.Glu685Val		B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37		.	.	.	.	.	.	.	.	.	.	A	21.6	4.172010	0.78452	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114	T;T;T;T;T;T;T	0.56611	0.45;0.45;0.45;0.45;0.45;0.45;0.45	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.72293	0.3442	M	0.77616	2.38	0.80722	D	1	B;D;D;D	0.65815	0.354;0.993;0.991;0.995	B;D;P;D	0.65987	0.355;0.94;0.9;0.931	T	0.73786	-0.3873	9	.	.	.	.	16.4608	0.84044	1.0:0.0:0.0:0.0	.	317;685;685;685	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	V	685;685;719;685;685;685;364	ENSP00000418191:E685V;ENSP00000419295:E685V;ENSP00000355398:E719V;ENSP00000384638:E685V;ENSP00000444675:E685V;ENSP00000441705:E685V;ENSP00000341500:E364V	.	E	+	2	0	CTNNA2	80669986	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.109000	0.94291	2.288000	0.76882	0.533000	0.62120	GAG		0.507	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		T	80816475	A	T	80816475	3	4	718	1	0	0	0	0	1	0	0	0	4015	304	11	5	1900	5	CTNNA2	2	80816475	Missense_Mutation	SNP	A	TCGA-KM-8440-01A-11D-2310-10	48122014	80816475	162382898	4	40237											
RNF181	51255	ucsc.edu	37	2	85823695	85823695	+	Missense_Mutation	SNP	A	A	G			TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr2:85823695A>G	ENST00000306368.4	+	2	170	c.140A>G	c.(139-141)gAc>gGc	p.D47G	RNF181_ENST00000441634.1_Missense_Mutation_p.D47G	NM_016494.3	NP_057578.1	Q9P0P0	RN181_HUMAN	ring finger protein 181	47					protein autoubiquitination (GO:0051865)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			lung(1)|stomach(1)	2						GTAGATTGGGACCACCACCTG	0.498																																																0													65	66	66					2																	85823695		2203	4300	6503	SO:0001583	missense	51255			AF151072	CCDS1981.1	2p11.2	2013-01-09			ENSG00000168894	ENSG00000168894		"RING-type (C3HC4) zinc fingers"	28037	protein-coding gene	gene with protein product		612490				11042152	Standard	XM_005264359		Approved	HSPC238	uc002spv.1	Q9P0P0	OTTHUMG00000130182	ENST00000306368.4:c.140A>G	2.37:g.85823695A>G	ENSP00000306906:p.Asp47Gly		Q53H81	Missense_Mutation	SNP	ENST00000306368.4	37	CCDS1981.1	.	.	.	.	.	.	.	.	.	.	A	16.50	3.141952	0.57044	.	.	ENSG00000168894	ENST00000441634;ENST00000306368;ENST00000414390	D;D	0.90504	-2.68;-2.68	5.75	4.58	0.56647	.	0.191798	0.52532	D	0.000063	D	0.85805	0.5782	L	0.47016	1.485	0.41740	D	0.989605	B	0.06786	0.001	B	0.08055	0.003	T	0.79122	-0.1933	10	0.21540	T	0.41	.	11.1994	0.48733	0.8458:0.1542:0.0:0.0	.	47	Q9P0P0	RN181_HUMAN	G	47	ENSP00000412025:D47G;ENSP00000306906:D47G	ENSP00000306906:D47G	D	+	2	0	RNF181	85677206	1.000000	0.71417	0.966000	0.40874	0.041000	0.13682	7.088000	0.76901	0.976000	0.38417	0.533000	0.62120	GAC		0.498	RNF181-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252500.1	NM_016494		G	85823695	A	G	85823695	3	3	718	1	0	0	0	0	1	0	0	0	13471	275	10	3	146	3	RNF181	2	85823695	Missense_Mutation	SNP	A	TCGA-KM-8440-01A-11D-2310-10	5007220	85823695	157375678	5	40238											
RBMS3	27303	broad.mit.edu;bcgsc.ca	37	3	29628650	29628650	+	Missense_Mutation	SNP	C	C	T			TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr3:29628650C>T	ENST00000383767.2	+	4	689	c.353C>T	c.(352-354)gCg>gTg	p.A118V	RBMS3_ENST00000456853.1_Missense_Mutation_p.A118V|RBMS3_ENST00000445033.1_Missense_Mutation_p.A118V|RBMS3_ENST00000396583.3_Missense_Mutation_p.A118V|RBMS3_ENST00000383766.2_Missense_Mutation_p.A117V|RBMS3_ENST00000273139.9_Missense_Mutation_p.A118V|RBMS3_ENST00000452462.1_Missense_Mutation_p.A118V|RBMS3_ENST00000434693.2_Missense_Mutation_p.A117V			Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	118	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				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)				GCACAGAAAGCGGTAGCATCT	0.388																																																0													124	131	129					3																	29628650		2203	4300	6503	SO:0001583	missense	27303			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.353C>T	3.37:g.29628650C>T	ENSP00000373277:p.Ala118Val		A8K9S4|B7ZL17|G5E9J9|O75876|Q17RI0|Q6XE23	Missense_Mutation	SNP	ENST00000383767.2	37	CCDS33724.1	.	.	.	.	.	.	.	.	.	.	C	36	5.609392	0.96637	.	.	ENSG00000144642	ENST00000434693;ENST00000396583;ENST00000383767;ENST00000445033;ENST00000273139;ENST00000383766;ENST00000452462;ENST00000456853	T;T;T;T;T;T;T;T	0.62788	-0.0;1.28;-0.0;-0.0;-0.0;1.28;-0.0;1.28	5.77	5.77	0.91146	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.73799	0.3633	L	0.52011	1.625	0.80722	D	1	D;D;D;D	0.69078	0.997;0.985;0.996;0.99	P;P;P;P	0.62014	0.841;0.897;0.836;0.843	T	0.70392	-0.4884	9	.	.	.	.	19.9655	0.97263	0.0:1.0:0.0:0.0	.	118;118;117;118	G5E9J9;Q6XE24-2;Q6XE24-3;Q6XE24	.;.;.;RBMS3_HUMAN	V	117;118;118;118;118;117;118;118	ENSP00000395592:A117V;ENSP00000379828:A118V;ENSP00000373277:A118V;ENSP00000391934:A118V;ENSP00000273139:A118V;ENSP00000373276:A117V;ENSP00000397926:A118V;ENSP00000400519:A118V	.	A	+	2	0	RBMS3	29603654	1.000000	0.71417	0.990000	0.47175	0.983000	0.72400	7.818000	0.86416	2.732000	0.93576	0.542000	0.68232	GCG		0.388	RBMS3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341306.1	NM_001003792		T	29628650	C	T	29628650	3	4	718	1	0	0	0	0	1	0	0	0	13156	768	27	1	367	1	RBMS3	3	29628650	Missense_Mutation	SNP	C	TCGA-KM-8440-01A-11D-2310-10		29628650	168393780	6	40239											
RAD54L2	23132	broad.mit.edu	37	3	51690165	51690165	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr3:51690165C>T	ENST00000409535.2	+	19	3330	c.3205C>T	c.(3205-3207)Cag>Tag	p.Q1069*	RAD54L2_ENST00000296477.3_Nonsense_Mutation_p.Q763*	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	1069						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)		AGTCCTTGTGCAGAAGGTGGT	0.493																																																0													73	64	67					3																	51690165		2203	4300	6503	SO:0001587	stop_gained	23132			AB018352	CCDS33765.2	3p21.2	2006-01-17			ENSG00000164080	ENSG00000164080			29123	protein-coding gene	gene with protein product						9872452	Standard	NM_015106		Approved	KIAA0809, SRISNF2L	uc011bdt.2	Q9Y4B4	OTTHUMG00000152936	ENST00000409535.2:c.3205C>T	3.37:g.51690165C>T	ENSP00000386520:p.Gln1069*		Q8TB57|Q9BV54	Nonsense_Mutation	SNP	ENST00000409535.2	37	CCDS33765.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	43|43	9.947530|9.947530	0.99302|0.99302	.|.	.|.	ENSG00000164080|ENSG00000164080	ENST00000432863|ENST00000409535;ENST00000296477	.|.	.|.	.|.	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.77785|.	0.4182|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.78448|.	-0.2200|.	3|.	.|0.56958	.|D	.|0.05	-14.7333|-14.7333	18.7862|18.7862	0.91955|0.91955	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	V|X	897|1069;763	.|.	.|ENSP00000296477:Q763X	A|Q	+|+	2|1	0|0	RAD54L2|RAD54L2	51665205|51665205	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.453000|7.453000	0.80700|0.80700	2.677000|2.677000	0.91161|0.91161	0.563000|0.563000	0.77884|0.77884	GCA|CAG		0.493	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328700.2	NM_015106		T	51690165	C	T	51690165	4	4	718	1	0	0	0	0	0	1	0	0	13000	711	25	2	3275	2	RAD54L2	3	51690165	Nonsense_Mutation	SNP	C	TCGA-KM-8440-01A-11D-2310-10	22061515	51690165	146332265	7	40240											
DGKQ	1609	broad.mit.edu	37	4	961063	961063	+	Silent	SNP	G	G	A	rs376274353		TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr4:961063G>A	ENST00000273814.3	-	9	1147	c.1074C>T	c.(1072-1074)gaC>gaT	p.D358D	DGKQ_ENST00000502309.1_5'Flank	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	358					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)			CAGCCCAGGCGTCACAGGCCT	0.726													G|||	1	0.000199681	0.0	0.0	5008	,	,		10427	0.0		0.0	False		,,,				2504	0.001				Esophageal Squamous(17;537 645 4447 26373)											0								G		0,4126		0,0,2063	8	11	10		1074	-7.6	0	4		10	1,8143		0,1,4071	no	coding-synonymous	DGKQ	NM_001347.2		0,1,6134	AA,AG,GG		0.0123,0.0,0.0081		358/943	961063	1,12269	2063	4072	6135	SO:0001819	synonymous_variant	1609			L38707	CCDS3342.1	4p16.3	2008-08-29	2002-08-29		ENSG00000145214	ENSG00000145214			2856	protein-coding gene	gene with protein product		601207	"diacylglycerol kinase, theta (110kD)"	DAGK4		8617502, 9099683	Standard	NM_001347		Approved	DAGK, DAGK7	uc003gbw.4	P52824	OTTHUMG00000088629	ENST00000273814.3:c.1074C>T	4.37:g.961063G>A			Q6P3W4	Silent	SNP	ENST00000273814.3	37	CCDS3342.1	.	.	.	.	.	.	.	.	.	.	G	4.346	0.063712	0.08388	0.0	1.23E-4	ENSG00000145214	ENST00000509465	.	.	.	3.78	-7.55	0.01327	.	.	.	.	.	T	0.23210	0.0561	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.19745	-1.0296	4	.	.	.	.	5.4238	0.16415	0.6615:0.1082:0.1219:0.1084	.	.	.	.	M	305	.	.	T	-	2	0	DGKQ	951063	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.351000	0.07711	-2.330000	0.00633	-1.723000	0.00705	ACG		0.726	DGKQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000200888.1			A	961063	G	A	961063	2	1	718	1	0	0	0	0	0	0	0	1	4475	1136	40	1		1	DGKQ	4	961063	Silent	SNP	G	TCGA-KM-8440-01A-11D-2310-10		961063	190193213	8	40241											
KLB	152831	mdanderson.org	37	4	39448542	39448542	+	Silent	SNP	C	C	G	rs7685429	byFrequency	TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr4:39448542C>G	ENST00000257408.4	+	4	2293	c.2196C>G	c.(2194-2196)ccC>ccG	p.P732P		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	732	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						AGTTCAGGCCCTCACAGCGCG	0.701													G|||	3832	0.765176	0.7201	0.8516	5008	,	,		16291	0.7212		0.7505	False		,,,				2504	0.8252															0								G		3156,1242		1134,888,177	25	27	26		2196	-2.3	0	4	dbSNP_116	26	6590,1996		2531,1528,234	no	coding-synonymous	KLB	NM_175737.3		3665,2416,411	GG,GC,CC		23.2471,28.2401,24.9384		732/1045	39448542	9746,3238	2199	4293	6492	SO:0001819	synonymous_variant	152831			AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962			15527	protein-coding gene	gene with protein product		611135					Standard	NM_175737		Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.2196C>G	4.37:g.39448542C>G			Q2M3K8	Silent	SNP	ENST00000257408.4	37	CCDS3451.1																																																																																				0.701	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250429.1	NM_175737		G	39448542	C	G	39448542	2	3	718	1	0	0	0	0	0	0	0	1	8334	668	24	4		4	KLB	4	39448542	Silent	SNP	C	TCGA-KM-8440-01A-11D-2310-10	38487479	39448542	151705734	9	40242											
NUDT9	53343	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	4	88379168	88379168	+	Silent	SNP	T	T	C			TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr4:88379168T>C	ENST00000302174.4	+	8	1372	c.1048T>C	c.(1048-1050)Ttg>Ctg	p.L350L	RP11-710E1.2_ENST00000609450.1_lincRNA|NUDT9_ENST00000473942.1_Silent_p.L300L	NM_024047.4	NP_076952.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 9	350					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)			endometrium(1)|large_intestine(4)|lung(6)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000937)		CTGCCATGCGTTGTAGCTGAT	0.458																																																0													83	72	75					4																	88379168		2203	4300	6503	SO:0001819	synonymous_variant	53343			AY026252	CCDS3620.1, CCDS3621.1	4q22.1	2008-08-29			ENSG00000170502	ENSG00000170502		"Nudix motif containing"	8056	protein-coding gene	gene with protein product		606022				11385575, 12427752	Standard	NM_024047		Approved	MGC3037	uc003hqq.3	Q9BW91	OTTHUMG00000130591	ENST00000302174.4:c.1048T>C	4.37:g.88379168T>C			Q8NBN1|Q8NCB9|Q8NG25	Silent	SNP	ENST00000302174.4	37	CCDS3620.1																																																																																				0.458	NUDT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253035.2			C	88379168	T	C	88379168	2	2	718	1	0	0	0	0	0	0	0	1	10748	1722	60	3		3	NUDT9	4	88379168	Silent	SNP	T	TCGA-KM-8440-01A-11D-2310-10	48930626	88379168	102775108	10	40243											
H2AFZ	3015	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	4	100870503	100870503	+	Missense_Mutation	SNP	G	G	T			TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr4:100870503G>T	ENST00000296417.5	-	3	339	c.122C>A	c.(121-123)aCg>aAg	p.T41K	H2AFZ_ENST00000529158.1_5'UTR|RP11-15B17.1_ENST00000507494.1_RNA|DNAJB14_ENST00000442697.2_5'Flank|RP11-15B17.1_ENST00000514624.1_RNA|DNAJB14_ENST00000471738.1_5'Flank|RP11-15B17.1_ENST00000501976.2_RNA	NM_002106.3	NP_002097.1	P0C0S5	H2AZ_HUMAN	H2A histone family, member Z	41					cellular response to estradiol stimulus (GO:0071392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular vesicular exosome (GO:0070062)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|nucleosomal DNA binding (GO:0031492)|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 distal enhancer sequence-specific DNA binding (GO:0000980)			breast(1)|endometrium(3)|lung(1)	5				OV - Ovarian serous cystadenocarcinoma(123;2.32e-08)		ATGACTGGTCGTCCTAGATTT	0.488											OREG0016271	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													60	59	59					4																	100870503		2203	4300	6503	SO:0001583	missense	3015			X52317	CCDS3654.1	4q23	2011-01-27			ENSG00000164032	ENSG00000164032		"Histones / Replication-independent"	4741	protein-coding gene	gene with protein product		142763		H2AZ		1697587	Standard	XM_005262971		Approved	H2A.Z	uc003hvo.1	P0C0S5	OTTHUMG00000131048	ENST00000296417.5:c.122C>A	4.37:g.100870503G>T	ENSP00000296417:p.Thr41Lys	1354	B2RD56|P17317|Q6I9U0	Missense_Mutation	SNP	ENST00000296417.5	37	CCDS3654.1	.	.	.	.	.	.	.	.	.	.	G	17.22	3.333693	0.60853	.	.	ENSG00000164032	ENST00000296417	T	0.67523	-0.27	3.76	3.76	0.43208	Histone-fold (2);Histone core (1);Histone H2A (1);	0.000000	0.85682	D	0.000000	T	0.44644	0.1303	N	0.10945	0.07	0.80722	D	1	P	0.39022	0.655	B	0.29598	0.104	T	0.58289	-0.7662	10	0.72032	D	0.01	.	15.7927	0.78380	0.0:0.0:1.0:0.0	.	41	P0C0S5	H2AZ_HUMAN	K	41	ENSP00000296417:T41K	ENSP00000296417:T41K	T	-	2	0	H2AFZ	101089526	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.608000	0.90895	1.938000	0.56188	0.555000	0.69702	ACG		0.488	H2AFZ-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000253695.1	NM_002106		T	100870503	G	T	100870503	3	4	718	1	0	0	0	0	1	0	0	0	6933	1145	40	4	276	4	H2AFZ	4	100870503	Missense_Mutation	SNP	G	TCGA-KM-8440-01A-11D-2310-10	12491335	100870503	90283773	11	40244											
FRG1	2483	mdanderson.org	37	4	190874235	190874235	+	Missense_Mutation	SNP	C	C	T			TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr4:190874235C>T	ENST00000226798.4	+	4	494	c.272C>T	c.(271-273)cCt>cTt	p.P91L	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	91					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)		GATGAGGGCCCTAGTCCTCCA	0.284																																																0													11	11	11					4																	190874235		2004	4059	6063	SO:0001583	missense	2483			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.272C>T	4.37:g.190874235C>T	ENSP00000226798:p.Pro91Leu		A8K775	Missense_Mutation	SNP	ENST00000226798.4	37	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	20.5	4.005972	0.74932	.	.	ENSG00000109536	ENST00000226798;ENST00000531991	T;T	0.71817	2.12;-0.6	3.71	3.71	0.42584	Actin cross-linking (1);	0.000000	0.85682	D	0.000000	D	0.84042	0.5385	M	0.89904	3.07	0.80722	D	1	P	0.46987	0.888	P	0.57776	0.827	D	0.87755	0.2594	10	0.72032	D	0.01	-24.9555	13.8593	0.63550	0.0:1.0:0.0:0.0	.	91	Q14331	FRG1_HUMAN	L	91;28	ENSP00000226798:P91L;ENSP00000435943:P28L	ENSP00000226798:P91L	P	+	2	0	FRG1	191111229	1.000000	0.71417	0.998000	0.56505	0.944000	0.59088	5.379000	0.66196	2.022000	0.59522	0.632000	0.83419	CCT		0.284	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		T	190874235	C	T	190874235	3	4	718	1	0	0	0	0	1	0	0	0	6048	681	24	2	286	2	FRG1	4	190874235	Missense_Mutation	SNP	C	TCGA-KM-8440-01A-11D-2310-10	90003732	190874235	280041	12	40245											
TCERG1	10915	hgsc.bcm.edu	37	5	145838641	145838641	+	Silent	SNP	C	C	T			TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr5:145838641C>T	ENST00000296702.5	+	4	671	c.633C>T	c.(631-633)gcC>gcT	p.A211A	TCERG1_ENST00000394421.2_Silent_p.A211A	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	211	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)	p.A211A(1)		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)			aggctcaggcccaggcccagg	0.731																																																1	Substitution - coding silent(1)	central_nervous_system(1)											11	15	13					5																	145838641		2184	4278	6462	SO:0001819	synonymous_variant	10915			AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"transcription factor CA150", "co-activator of 150 kDa", "TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD", "TATA box-binding protein-associated factor 2S"	605409	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.633C>T	5.37:g.145838641C>T			Q2NKN2|Q59EA1	Silent	SNP	ENST00000296702.5	37	CCDS4282.1																																																																																				0.731	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		T	145838641	C	T	145838641	2	4	718	1	0	0	0	0	0	0	0	1	15690	610	22	2		2	TCERG1	5	145838641	Silent	SNP	C	TCGA-KM-8440-01A-11D-2310-10		145838641	35076619	13	40246											
MUC21	394263	mdanderson.org	37	6	30955119	30955119	+	Silent	SNP	A	A	T	rs55918804	byFrequency	TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr6:30955119A>T	ENST00000376296.3	+	2	1408	c.1167A>T	c.(1165-1167)acA>acT	p.T389T	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	389	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						GGGCCAGCACAGCCACCACCT	0.637																																																0													143	140	141					6																	30955119		2203	4294	6497	SO:0001819	synonymous_variant	394263			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.1167A>T	6.37:g.30955119A>T			B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Silent	SNP	ENST00000376296.3	37	CCDS34388.1																																																																																				0.637	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		T	30955119	A	T	30955119	2	4	718	1	0	0	0	0	0	0	0	1	9979	175	7	5		5	MUC21	6	30955119	Silent	SNP	A	TCGA-KM-8440-01A-11D-2310-10		30955119	140159948	14	40247											
KCNK16	83795	ucsc.edu;bcgsc.ca	37	6	39290273	39290273	+	Missense_Mutation	SNP	A	A	G			TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr6:39290273A>G	ENST00000373229.5	-	1	57	c.44T>C	c.(43-45)cTg>cCg	p.L15P	KCNK16_ENST00000373227.4_Missense_Mutation_p.L15P|KCNK16_ENST00000425054.2_Missense_Mutation_p.L15P|KCNK16_ENST00000507712.1_Intron|KCNK16_ENST00000437525.2_Missense_Mutation_p.L15P	NM_032115.3	NP_115491.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	15					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						CAGCAGGGGCAGCACCCGGCC	0.662																																																0													24	22	23					6																	39290273		2203	4298	6501	SO:0001583	missense	83795			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.44T>C	6.37:g.39290273A>G	ENSP00000362326:p.Leu15Pro		B5TJL9|Q2M2N9|Q5TCF3|Q6X6Z3|Q6X6Z4|Q6X6Z5|Q9H591	Missense_Mutation	SNP	ENST00000373229.5	37	CCDS4843.1	.	.	.	.	.	.	.	.	.	.	A	15.28	2.785389	0.49997	.	.	ENSG00000095981	ENST00000373229;ENST00000425054;ENST00000373227;ENST00000437525	T;T;T;T	0.27720	1.65;1.65;1.65;1.65	5.79	5.79	0.91817	.	0.279371	0.30519	N	0.009456	T	0.23886	0.0578	M	0.78049	2.395	0.80722	D	1	B;B;B;B	0.31769	0.076;0.125;0.339;0.076	B;B;B;B	0.33620	0.016;0.037;0.167;0.016	T	0.21655	-1.0239	10	0.87932	D	0	.	9.8431	0.41010	0.9213:0.0:0.0787:0.0	.	15;15;15;15	B5TJL9;Q96T55-5;Q96T55-4;Q96T55	.;.;.;KCNKG_HUMAN	P	15	ENSP00000362326:L15P;ENSP00000391498:L15P;ENSP00000362324:L15P;ENSP00000415375:L15P	ENSP00000362324:L15P	L	-	2	0	KCNK16	39398251	0.992000	0.36948	0.992000	0.48379	0.454000	0.32378	1.697000	0.37784	2.208000	0.71279	0.459000	0.35465	CTG		0.662	KCNK16-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040452.2	NM_032115		G	39290273	A	G	39290273	3	3	718	1	0	0	0	0	1	0	0	0	8065	188	7	3	1294	3	KCNK16	6	39290273	Missense_Mutation	SNP	A	TCGA-KM-8440-01A-11D-2310-10	8335154	39290273	131824794	15	40248											
POM121C	100101267	broad.mit.edu	37	7	75055685	75055686	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr7:75055685_75055686insCC	ENST00000257665.5	-	6	1255_1256	c.1256_1257insGG	c.(1255-1257)tcafs	p.S419fs	POM121C_ENST00000473168.1_Intron|POM121C_ENST00000453279.2_Frame_Shift_Ins_p.S177fs			A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	419	Pore side. {ECO:0000255}.|Ser-rich.				mRNA transport (GO:0051028)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						GGGAGCGGGATGAGGCTGGGCT	0.505																																																0																																										SO:0001589	frameshift_variant	100101267				CCDS47617.1	7q11.23	2012-03-13	2012-03-13		ENSG00000135213	ENSG00000272391			34005	protein-coding gene	gene with protein product		615754	"POM121 membrane glycoprotein C"			17900573	Standard	NM_001099415		Approved		uc003udk.4	A8CG34	OTTHUMG00000156238	ENST00000257665.5:c.1256_1257insGG	7.37:g.75055685_75055686insCC	ENSP00000257665:p.Ser419fs		O75115|Q9Y2N3|Q9Y4S7	Frame_Shift_Ins	INS	ENST00000257665.5	37																																																																																					0.505	POM121C-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000343919.2	NM_001099415		CC	75055686	-	CC	75055685	7	5	718	1	0	1	1	0	0	0	0	0	12242	1451	51	0	2464	0	POM121C	7	75055685	Frame_Shift_Ins	INS	-	TCGA-KM-8440-01A-11D-2310-10		75055685	84082978	16	40249											
TRIM4	89122	broad.mit.edu	37	7	99514382	99514382	+	Silent	SNP	G	G	A			TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr7:99514382G>A	ENST00000355947.2	-	2	543	c.414C>T	c.(412-414)caC>caT	p.H138H	TRIM4_ENST00000349062.2_Intron|TRIM4_ENST00000354241.5_Intron	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN	tripartite motif containing 4	138					protein trimerization (GO:0070206)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				attcatccacgtggatgtcaa	0.403																																																0													208	216	213					7																	99514382		2203	4300	6503	SO:0001819	synonymous_variant	89122			AF220023	CCDS5678.1, CCDS5679.1	7q22-q31.1	2013-01-09	2011-01-25		ENSG00000146833	ENSG00000146833		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16275	protein-coding gene	gene with protein product	"tripartite motif protein TRIM4", "tripartite motif protein 4"		"tripartite motif-containing 4"			11331580	Standard	NM_033017		Approved	RNF87	uc003use.3	Q9C037	OTTHUMG00000156648	ENST00000355947.2:c.414C>T	7.37:g.99514382G>A			A4D298|Q75MK1|Q96F06|Q9C036	Silent	SNP	ENST00000355947.2	37	CCDS5679.1																																																																																				0.403	TRIM4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345050.1	NM_033017		A	99514382	G	A	99514382	2	1	718	1	0	0	0	0	0	0	0	1	16519	1136	40	1		1	TRIM4	7	99514382	Silent	SNP	G	TCGA-KM-8440-01A-11D-2310-10	24458697	99514382	59624281	17	40250											
KLF14	136259	mdanderson.org	37	7	130418525	130418525	+	Silent	SNP	G	G	A	rs76603546	byFrequency	TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr7:130418525G>A	ENST00000310992.4	-	1	363	c.336C>T	c.(334-336)tcC>tcT	p.S112S		NM_138693.2	NP_619638.2	Q8TD94	KLF14_HUMAN	Kruppel-like factor 14	112					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(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(18;0.0435)					CGGAGAAGCCGGACGAGGCGC	0.746													G|||	1930	0.385383	0.1067	0.4697	5008	,	,		9011	0.5397		0.498	False		,,,				2504	0.4274															0								G		729,3497		105,519,1489	6	10	8		336	-6.1	0	7	dbSNP_131	8	3856,4508		998,1860,1324	no	coding-synonymous	KLF14	NM_138693.2		1103,2379,2813	AA,AG,GG		46.1023,17.2504,36.4178		112/324	130418525	4585,8005	2113	4182	6295	SO:0001819	synonymous_variant	136259			AF490374	CCDS5825.1	7q32.3	2014-05-06			ENSG00000174595	ENSG00000266265		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	23025	protein-coding gene	gene with protein product		609393				17480121	Standard	NM_138693		Approved	BTEB5	uc003vqk.2	Q8TD94	OTTHUMG00000188298	ENST00000310992.4:c.336C>T	7.37:g.130418525G>A			Q19A42|Q19A43	Silent	SNP	ENST00000310992.4	37	CCDS5825.1																																																																																				0.746	KLF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338013.1	NM_138693		A	130418525	G	A	130418525	2	1	718	1	0	0	0	0	0	0	0	1	8344	1103	39	1		1	KLF14	7	130418525	Silent	SNP	G	TCGA-KM-8440-01A-11D-2310-10	30904143	130418525	28720138	18	40251											
PRSS1	5644	mdanderson.org	37	7	142460779	142460779	+	Missense_Mutation	SNP	G	G	T	rs574391339		TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr7:142460779G>T	ENST00000311737.7	+	5	658	c.652G>T	c.(652-654)Gat>Tat	p.D218Y	PRSS1_ENST00000486171.1_Missense_Mutation_p.D232Y	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	218	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	CTCCTGGGGTGATGGCTGTGC	0.522													g|||	1	0.000199681	0.0	0.0	5008	,	,		16476	0.001		0.0	False		,,,				2504	0.0															0													81	82	82					7																	142460779		2203	4300	6503	SO:0001583	missense	5644			M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"Serine peptidases / Serine peptidases"	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.652G>T	7.37:g.142460779G>T	ENSP00000308720:p.Asp218Tyr		A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Missense_Mutation	SNP	ENST00000311737.7	37	CCDS5872.1	.	.	.	.	.	.	.	.	.	.	g	0.001	-3.097197	0.00034	.	.	ENSG00000204983	ENST00000486171;ENST00000311737;ENST00000529243	D;D	0.88896	-2.44;-2.44	3.18	1.99	0.26369	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.434585	0.27223	N	0.020352	T	0.65417	0.2689	N	0.02765	-0.5	0.24198	N	0.995522	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.56444	-0.7978	10	0.02654	T	1	.	4.1291	0.10141	0.3145:0.0:0.1737:0.5118	.	232;218	E7EQ64;P07477	.;TRY1_HUMAN	Y	232;218;208	ENSP00000417854:D232Y;ENSP00000308720:D218Y	ENSP00000308720:D218Y	D	+	1	0	PRSS1	142140353	0.000000	0.05858	0.995000	0.50966	0.013000	0.08279	0.233000	0.17911	0.385000	0.24970	-1.375000	0.01183	GAT		0.522	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2			T	142460779	G	T	142460779	3	4	718	1	0	0	0	0	1	0	0	0	12619	1290	45	4	670	4	PRSS1	7	142460779	Missense_Mutation	SNP	G	TCGA-KM-8440-01A-11D-2310-10	12042254	142460779	16677884	19	40252											
MLL3	58508	mdanderson.org	37	7	151962290	151962290	+	Missense_Mutation	SNP	C	C	G			TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr7:151962290C>G	ENST00000262189.6	-	8	1235	c.1017G>C	c.(1015-1017)aaG>aaC	p.K339N	KMT2C_ENST00000355193.2_Missense_Mutation_p.K339N	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	339					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)										TTGCATCTTCCTTCGCTATAA	0.368																																																0													77	71	73					7																	151962290		2203	4299	6502	SO:0001583	missense	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1017G>C	7.37:g.151962290C>G	ENSP00000262189:p.Lys339Asn		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	6.180	0.401340	0.11696	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.98822	-5.16;-5.16	4.65	3.77	0.43336	Zinc finger, RING/FYVE/PHD-type (1);Protein kinase C-like, phorbol ester/diacylglycerol binding (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.43416	U	0.000576	D	0.97807	0.9280	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.95779	0.8815	10	0.14656	T	0.56	.	11.2491	0.49015	0.0:0.8451:0.0:0.1549	.	339	Q8NEZ4	MLL3_HUMAN	N	339	ENSP00000262189:K339N;ENSP00000347325:K339N	ENSP00000262189:K339N	K	-	3	2	MLL3	151593223	1.000000	0.71417	1.000000	0.80357	0.006000	0.05464	1.789000	0.38724	1.072000	0.40860	-0.262000	0.10625	AAG		0.368	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			G	151962290	C	G	151962290	3	3	718	1	0	0	0	0	1	0	0	0	9624	680	24	4	13926	4	MLL3	7	151962290	Missense_Mutation	SNP	C	TCGA-KM-8440-01A-11D-2310-10	9501511	151962290	7176373	20	40253											
EEF1D	1936	mdanderson.org	37	8	144671244	144671244	+	Intron	SNP	C	C	A	rs4874160	byFrequency	TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr8:144671244C>A	ENST00000529272.1	-	2	397				EEF1D_ENST00000423316.2_Silent_p.R336R|EEF1D_ENST00000395119.3_Intron|EEF1D_ENST00000442189.2_Silent_p.R336R|EEF1D_ENST00000526838.1_Intron|EEF1D_ENST00000528610.1_Intron|EEF1D_ENST00000317198.6_Intron|EEF1D_ENST00000532741.1_Silent_p.R386R|EEF1D_ENST00000524624.1_Intron|EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000419152.2_Intron|EEF1D_ENST00000531621.1_Intron			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)						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)			ACCAGGCCACCCGCAGGGCCT	0.662													G|||	3218	0.642572	0.4879	0.7536	5008	,	,		16212	0.5149		0.8499	False		,,,				2504	0.6912															0								G	,,,,,,	2422,1970		730,962,504	22	21	22		1008,,,,,,1008	2.6	1	8	dbSNP_111	22	7854,740		3631,592,74	no	coding-synonymous,intron,intron,intron,intron,intron,coding-synonymous	EEF1D	NM_001130053.2,NM_001130055.2,NM_001130056.2,NM_001130057.2,NM_001195203.1,NM_001960.4,NM_032378.4	,,,,,,	4361,1554,578	AA,AC,CC		8.6107,44.8543,20.8686	,,,,,,	336/648,,,,,,336/648	144671244	10276,2710	2196	4297	6493	SO:0001627	intron_variant	1936			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.4-2225G>T	8.37:g.144671244C>A			B4DDU4|D3DWK3|E9PBQ9|Q4VBZ6|Q969J1|Q96I38	Silent	SNP	ENST00000529272.1	37	CCDS6405.1																																																																																				0.662	EEF1D-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382592.2	NM_032378		A	144671244	C	A	144671244	1	1	718	0	1	0	0	0	0	0	0	0	4928	610	22	4		4	EEF1D	8	144671244	Intron	SNP	C	TCGA-KM-8440-01A-11D-2310-10		144671244	1692778	21	40254											
ZNF658	26149	mdanderson.org	37	9	40775035	40775035	+	Splice_Site	SNP	C	C	T	rs62561230	byFrequency	TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr9:40775035C>T	ENST00000602553.1	-	5	534	c.240G>A	c.(238-240)ggG>ggA	p.G80G	ZNF658_ENST00000377626.3_Splice_Site_p.G80G|ZNF658_ENST00000441795.1_Splice_Site_p.G78G			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	80					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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)		CTTTAAAATACCCTAAAATGA	0.299													T|||	3162	0.63139	0.6687	0.7046	5008	,	,		6646	0.748		0.6451	False		,,,				2504	0.3947															0													15	18	17					9																	40775035		714	1718	2432	SO:0001630	splice_region_variant	26149			AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"Zinc fingers, C2H2-type", "-"	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.239-1G>A	9.37:g.40775035C>T			Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Silent	SNP	ENST00000602553.1	37	CCDS35023.1																																																																																				0.299	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467800.1	NM_033160	Silent	T	40775035	C	T	40775035	5	4	718	1	0	0	0	0	0	0	1	0	18074	521	18	2	2943	2	ZNF658	9	40775035	Splice_Site	SNP	C	TCGA-KM-8440-01A-11D-2310-10		40775035	100438396	22	40255											
TTC16	158248	mdanderson.org	37	9	130487157	130487157	+	Missense_Mutation	SNP	T	T	G	rs77630455	byFrequency	TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr9:130487157T>G	ENST00000373289.3	+	9	1320	c.1240T>G	c.(1240-1242)Ttc>Gtc	p.F414V	TTC16_ENST00000489226.1_Intron|PTRH1_ENST00000419060.1_5'Flank|PTRH1_ENST00000429848.1_5'Flank|TTC16_ENST00000393748.4_3'UTR	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	414										central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						GAAGATGGGCTTCTGCGAGCA	0.726													T|||	33	0.00658946	0.0234	0.0029	5008	,	,		12083	0.0		0.0	False		,,,				2504	0.0															0								T	VAL/PHE	100,4252		2,96,2078	8	9	8		1240	1	0	9	dbSNP_131	8	0,8550		0,0,4275	yes	missense	TTC16	NM_144965.1	50	2,96,6353	GG,GT,TT		0.0,2.2978,0.7751	benign	414/874	130487157	100,12802	2176	4275	6451	SO:0001583	missense	158248			AK057342	CCDS6875.1	9q34.13	2013-01-10			ENSG00000167094	ENSG00000167094		"Tetratricopeptide (TTC) repeat domain containing"	26536	protein-coding gene	gene with protein product						12477932	Standard	NM_144965		Approved	FLJ32780	uc004brq.1	Q8NEE8	OTTHUMG00000020711	ENST00000373289.3:c.1240T>G	9.37:g.130487157T>G	ENSP00000362386:p.Phe414Val		B4DYG4|B5ME24|Q5JU66|Q96M72	Missense_Mutation	SNP	ENST00000373289.3	37	CCDS6875.1	9	0.004120879120879121	8	0.016260162601626018	1	0.0027624309392265192	0	0.0	0	0.0	T	10.99	1.506864	0.26949	0.022978	0.0	ENSG00000167094	ENST00000373289	T	0.62498	0.02	4.86	1.03	0.20045	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.802502	0.11065	N	0.603527	T	0.26122	0.0637	L	0.27053	0.805	0.19300	N	0.99998	P;P	0.45176	0.852;0.852	B;B	0.39217	0.294;0.294	T	0.12016	-1.0564	10	0.38643	T	0.18	-5.8329	4.0479	0.09781	0.0:0.3269:0.182:0.4912	.	401;414	B4DZ42;Q8NEE8	.;TTC16_HUMAN	V	414	ENSP00000362386:F414V	ENSP00000362386:F414V	F	+	1	0	TTC16	129526978	0.000000	0.05858	0.010000	0.14722	0.018000	0.09664	-0.338000	0.07842	0.211000	0.20683	0.260000	0.18958	TTC		0.726	TTC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054224.1	NM_144965		G	130487157	T	G	130487157	3	3	718	1	0	0	0	0	1	0	0	0	16688	1609	56	5	1274	5	TTC16	9	130487157	Missense_Mutation	SNP	T	TCGA-KM-8440-01A-11D-2310-10	89712122	130487157	10726274	23	40256											
TUBB8	347688	mdanderson.org	37	10	94006	94006	+	Missense_Mutation	SNP	C	C	T	rs368995010		TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr10:94006C>T	ENST00000309812.4	-	4	388	c.326G>A	c.(325-327)gGc>gAc	p.G109D	TUBB8_ENST00000332708.5_Missense_Mutation_p.A73T|TUBB8_ENST00000413237.3_5'UTR|TUBB8_ENST00000447903.2_Missense_Mutation_p.G37D	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	109					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)		CAGCTCCGCGCCTTCGGTGTA	0.607																																					Pancreas(192;2041 3010 9013 18103)											0													73	62	66					10																	94006		2203	4300	6503	SO:0001583	missense	347688			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.326G>A	10.37:g.94006C>T	ENSP00000311042:p.Gly109Asp		Q5SQX9|Q8WZ78	Missense_Mutation	SNP	ENST00000309812.4	37	CCDS7051.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.54|12.54	1.968692|1.968692	0.34754|0.34754	.|.	.|.	ENSG00000173876|ENSG00000173876	ENST00000309812;ENST00000332708|ENST00000447903;ENST00000272035;ENST00000440680;ENST00000328974	.|T	.|0.75704	.|-0.96	.|.	.|.	.|.	.|Tubulin/FtsZ, GTPase domain (4);	.|0.000000	.|0.64402	.|U	.|0.000010	D|D	0.90594|0.90594	0.7051|0.7051	H|H	0.99777|0.99777	4.77|4.77	0.39819|0.39819	D|D	0.972819|0.972819	.|D;D	.|0.89917	.|0.997;1.0	.|D;D	.|0.97110	.|0.982;1.0	D|D	0.86775|0.86775	0.1975|0.1975	5|9	0.87932|0.87932	D|D	0|0	.|.	5.9051|5.9051	0.18992|0.18992	0.0:0.9992:0.0:8.0E-4|0.0:0.9992:0.0:8.0E-4	.|.	.|72;109	.|C9JAA5;Q3ZCM7	.|.;TBB8_HUMAN	T|D	117;73|37;75;72;109	.|ENSP00000403895:G37D	ENSP00000311042:A117T|ENSP00000272035:G75D	A|G	-|-	1|2	0|0	RP11-631M21.2|RP11-631M21.2	84006|84006	0.998000|0.998000	0.40836|0.40836	0.282000|0.282000	0.24776|0.24776	0.286000|0.286000	0.27126|0.27126	5.268000|5.268000	0.65536|0.65536	0.119000|0.119000	0.18210|0.18210	0.121000|0.121000	0.15741|0.15741	GCG|GGC		0.607	TUBB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467795.1	NM_177987		T	94006	C	T	94006	3	4	718	1	0	0	0	0	1	0	0	0	16766	739	26	2	1012	2	TUBB8	10	94006	Missense_Mutation	SNP	C	TCGA-KM-8440-01A-11D-2310-10		94006	135440741	24	40257											
CELF2	10659	hgsc.bcm.edu	37	10	11207550	11207550	+	Missense_Mutation	SNP	C	C	T			TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr10:11207550C>T	ENST00000379261.4	+	2	247	c.155C>T	c.(154-156)tCg>tTg	p.S52L	CELF2_ENST00000608830.1_Missense_Mutation_p.S28L|CELF2_ENST00000354897.3_Missense_Mutation_p.S28L|CELF2_ENST00000315874.4_Missense_Mutation_p.S28L|CELF2_ENST00000609692.1_Missense_Mutation_p.S28L|CELF2_ENST00000354440.2_Missense_Mutation_p.S28L|CELF2_ENST00000416382.2_Missense_Mutation_p.S52L|CELF2_ENST00000417956.2_Missense_Mutation_p.S28L|CELF2_ENST00000450189.1_Missense_Mutation_p.S59L|CELF2_ENST00000542579.1_Missense_Mutation_p.S59L|CELF2_ENST00000427450.1_Missense_Mutation_p.S28L|CELF2_ENST00000537122.1_5'UTR|CELF2_ENST00000399850.3_Missense_Mutation_p.S28L	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	52	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				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						CGGTCATGGTCGGAAAAGGAG	0.527																																																0													89	94	93					10																	11207550		1945	4147	6092	SO:0001583	missense	10659			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.155C>T	10.37:g.11207550C>T	ENSP00000368563:p.Ser52Leu		B7ZAN9|Q7KYU4|Q8N499|Q92950|Q96NW9|Q96RQ5|Q96RQ6|Q9UL67	Missense_Mutation	SNP	ENST00000379261.4	37	CCDS44354.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.644377	0.67244	.	.	ENSG00000048740	ENST00000379261;ENST00000416382;ENST00000450189;ENST00000542579;ENST00000399850;ENST00000417956;ENST00000315874;ENST00000354440;ENST00000354897;ENST00000427450	T;T;T;T;T;T;T;T;T	0.18016	2.24;2.24;2.24;2.24;2.24;2.24;2.24;2.24;2.24	5.51	5.51	0.81932	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.29093	0.0723	L	0.46157	1.445	0.80722	D	1	D;D;P;P;D;D;D	0.56035	0.957;0.957;0.802;0.92;0.974;0.969;0.957	P;P;B;B;P;P;P	0.51582	0.556;0.674;0.138;0.381;0.558;0.544;0.674	T	0.00546	-1.1678	10	0.62326	D	0.03	-5.2597	19.807	0.96535	0.0:1.0:0.0:0.0	.	36;52;28;47;59;47;52	B4DDE7;B4DS31;B4DSZ2;B2RA86;E9PC62;O95319-3;O95319	.;.;.;.;.;.;CELF2_HUMAN	L	52;52;59;59;28;28;28;28;28;28	ENSP00000368563:S52L;ENSP00000406451:S52L;ENSP00000389951:S59L;ENSP00000443926:S59L;ENSP00000382743:S28L;ENSP00000404834:S28L;ENSP00000315328:S28L;ENSP00000346426:S28L;ENSP00000388530:S28L	ENSP00000315328:S28L	S	+	2	0	CELF2	11247556	1.000000	0.71417	0.976000	0.42696	0.967000	0.64934	5.846000	0.69444	2.759000	0.94783	0.563000	0.77884	TCG		0.527	CELF2-201	KNOWN	basic|CCDS	protein_coding	protein_coding				T	11207550	C	T	11207550	3	4	718	1	0	0	0	0	1	0	0	0	3218	893	31	1	239	1	CELF2	10	11207550	Missense_Mutation	SNP	C	TCGA-KM-8440-01A-11D-2310-10	11113544	11207550	124327197	25	40258											
PDCD11	22984	ucsc.edu	37	10	105160258	105160258	+	Silent	SNP	A	A	G			TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr10:105160258A>G	ENST00000369797.3	+	3	301	c.207A>G	c.(205-207)agA>agG	p.R69R		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	69					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)		AGTCCGCAAGAGAGAAGTTTG	0.373																																																0													121	133	129					10																	105160258		2203	4300	6503	SO:0001819	synonymous_variant	22984			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.207A>G	10.37:g.105160258A>G			Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Silent	SNP	ENST00000369797.3	37	CCDS31276.1																																																																																				0.373	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			G	105160258	A	G	105160258	2	3	718	1	0	0	0	0	0	0	0	1	11619	301	11	3		3	PDCD11	10	105160258	Silent	SNP	A	TCGA-KM-8440-01A-11D-2310-10	93952708	105160258	30374489	26	40259											
KRTAP5-4	387267	hgsc.bcm.edu	37	11	1643255	1643255	+	Silent	SNP	G	G	A			TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr11:1643255G>A	ENST00000399682.1	-	1	113	c.69C>T	c.(67-69)ggC>ggT	p.G23G		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	0						keratin filament (GO:0045095)		p.G23G(1)		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)		cagagccacagcccccacagc	0.687																																																1	Substitution - coding silent(1)	kidney(1)											4	8	7					11																	1643255		646	1526	2172	SO:0001819	synonymous_variant	387267			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.69C>T	11.37:g.1643255G>A				Silent	SNP	ENST00000399682.1	37																																																																																					0.687	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000127918.1	NM_001012709		A	1643255	G	A	1643255	2	1	718	1	0	0	0	0	0	0	0	1	8565	958	34	2		2	KRTAP5-4	11	1643255	Silent	SNP	G	TCGA-KM-8440-01A-11D-2310-10		1643255	133363261	27	40260											
VWCE	220001	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	11	61026257	61026257	+	Missense_Mutation	SNP	C	C	T	rs550040653		TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr11:61026257C>T	ENST00000335613.5	-	20	3144	c.2758G>A	c.(2758-2760)Gtg>Atg	p.V920M	VWCE_ENST00000535710.1_Missense_Mutation_p.V385M	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	920						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						GGAGAAAGCACGCGAGGCCCG	0.667																																																0													58	65	63					11																	61026257		2203	4299	6502	SO:0001583	missense	220001			AK056571	CCDS8002.1	11q12.2	2006-08-04			ENSG00000167992	ENSG00000167992			26487	protein-coding gene	gene with protein product		611115				12869306	Standard	NM_152718		Approved	URG11, FLJ32009, VWC1	uc001nra.3	Q96DN2	OTTHUMG00000168208	ENST00000335613.5:c.2758G>A	11.37:g.61026257C>T	ENSP00000334186:p.Val920Met		A5PKV0|Q7Z7L6|Q86WK8	Missense_Mutation	SNP	ENST00000335613.5	37	CCDS8002.1	.	.	.	.	.	.	.	.	.	.	T	9.953	1.220611	0.22457	.	.	ENSG00000167992	ENST00000335613;ENST00000535710	T;T	0.69175	-0.38;3.49	4.81	2.16	0.27623	.	0.708805	0.11573	N	0.550511	T	0.42630	0.1211	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26780	-1.0093	10	0.40728	T	0.16	.	5.9278	0.19122	0.0:0.3978:0.0:0.6022	.	920	Q96DN2	VWCE_HUMAN	M	920;385	ENSP00000334186:V920M;ENSP00000442570:V385M	ENSP00000334186:V920M	V	-	1	0	VWCE	60782833	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	0.048000	0.14078	0.290000	0.22444	-0.361000	0.07541	GTG		0.667	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398811.1	NM_152718		T	61026257	C	T	61026257	3	4	718	1	0	0	0	0	1	0	0	0	17250	536	19	1	113	1	VWCE	11	61026257	Missense_Mutation	SNP	C	TCGA-KM-8440-01A-11D-2310-10	59383002	61026257	73980259	28	40261											
AHNAK	79026	broad.mit.edu	37	11	62294617	62294617	+	Silent	SNP	C	C	T	rs143003772		TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr11:62294617C>T	ENST00000378024.4	-	5	7546	c.7272G>A	c.(7270-7272)ggG>ggA	p.G2424G	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2424					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)				CAATGTCTGGCCCACTGACAT	0.478																																																0													78	76	77					11																	62294617		2202	4299	6501	SO:0001819	synonymous_variant	79026			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.7272G>A	11.37:g.62294617C>T			A1A586	Silent	SNP	ENST00000378024.4	37	CCDS31584.1																																																																																				0.478	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		T	62294617	C	T	62294617	2	4	718	1	0	0	0	0	0	0	0	1	414	726	26	2		2	AHNAK	11	62294617	Silent	SNP	C	TCGA-KM-8440-01A-11D-2310-10	1268360	62294617	72711899	29	40262											
MAML2	84441	hgsc.bcm.edu	37	11	95825362	95825362	+	Silent	SNP	C	C	T			TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr11:95825362C>T	ENST00000524717.1	-	2	3117	c.1833G>A	c.(1831-1833)caG>caA	p.Q611Q		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	611					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.Q611Q(2)	CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				gctgttgctgctgctgctgct	0.542			T	"MECT1, CRTC3"	salivary gland mucoepidermoid																																		Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	2	Substitution - coding silent(2)	endometrium(1)|kidney(1)											39	44	42					11																	95825362		2057	4042	6099	SO:0001819	synonymous_variant	84441			AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"mastermind (Drosophila)-like 2"			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.1833G>A	11.37:g.95825362C>T			A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Silent	SNP	ENST00000524717.1	37	CCDS44714.1																																																																																				0.542	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1			T	95825362	C	T	95825362	2	4	718	1	0	0	0	0	0	0	0	1	9208	796	28	2		2	MAML2	11	95825362	Silent	SNP	C	TCGA-KM-8440-01A-11D-2310-10	33530745	95825362	39181154	30	40263											
MLL2	8085	ucsc.edu;mdanderson.org;bcgsc.ca	37	12	49436390	49436390	+	Missense_Mutation	SNP	T	T	C	rs372271746		TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr12:49436390T>C	ENST00000301067.7	-	27	5820	c.5821A>G	c.(5821-5823)Atg>Gtg	p.M1941V		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1941					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)										TAGGAGTCCATTGGGCTGCTG	0.562																																																0								T	VAL/MET	1,3979		0,1,1989	63	69	67		5821	4.2	1	12		67	0,8330		0,0,4165	no	missense	MLL2	NM_003482.3	21	0,1,6154	CC,CT,TT		0.0,0.0251,0.0081	benign	1941/5538	49436390	1,12309	1990	4165	6155	SO:0001583	missense	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.5821A>G	12.37:g.49436390T>C	ENSP00000301067:p.Met1941Val		O14687	Missense_Mutation	SNP	ENST00000301067.7	37	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	T	9.790	1.177703	0.21787	2.51E-4	0.0	ENSG00000167548	ENST00000301067	T	0.79352	-1.26	5.36	4.18	0.49190	.	0.163095	0.29424	N	0.012200	T	0.60508	0.2274	N	0.12182	0.205	0.31552	N	0.658643	B	0.14012	0.009	B	0.11329	0.006	T	0.61888	-0.6970	10	0.87932	D	0	.	9.4065	0.38464	0.1589:0.0:0.0:0.8411	.	1941	O14686	MLL2_HUMAN	V	1941	ENSP00000301067:M1941V	ENSP00000301067:M1941V	M	-	1	0	MLL2	47722657	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.991000	0.40727	0.836000	0.34901	0.459000	0.35465	ATG		0.562	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			C	49436390	T	C	49436390	3	2	718	1	0	0	0	0	1	0	0	0	9623	1493	52	3	10904	3	MLL2	12	49436390	Missense_Mutation	SNP	T	TCGA-KM-8440-01A-11D-2310-10		49436390	84415505	31	40264											
RBM19	9904	hgsc.bcm.edu;ucsc.edu	37	12	114261040	114261040	+	Missense_Mutation	SNP	G	G	T			TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr12:114261040G>T	ENST00000545145.2	-	24	2950	c.2872C>A	c.(2872-2874)Ctt>Att	p.L958I	RBM19_ENST00000392561.3_Missense_Mutation_p.L958I|RBM19_ENST00000261741.5_Missense_Mutation_p.L958I	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	958					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)					CACAGCTGAAGGGTCTGCTCC	0.657																																																0													46	40	42					12																	114261040		2203	4300	6503	SO:0001583	missense	9904			AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"RNA binding motif (RRM) containing"	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.2872C>A	12.37:g.114261040G>T	ENSP00000442053:p.Leu958Ile		A8K5X9|Q9BPY6|Q9UFN5	Missense_Mutation	SNP	ENST00000545145.2	37	CCDS9172.1	.	.	.	.	.	.	.	.	.	.	G	18.65	3.670262	0.67814	.	.	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	T;T;T	0.05786	3.39;3.39;3.39	4.39	4.39	0.52855	.	0.000000	0.43579	D	0.000543	T	0.05318	0.0141	N	0.22421	0.69	0.22479	N	0.999061	B	0.15719	0.014	B	0.15870	0.014	T	0.28396	-1.0045	10	0.52906	T	0.07	-2.5835	11.2472	0.49004	0.0:0.0:0.818:0.182	.	958	Q9Y4C8	RBM19_HUMAN	I	958	ENSP00000442053:L958I;ENSP00000376344:L958I;ENSP00000261741:L958I	ENSP00000261741:L958I	L	-	1	0	RBM19	112745423	1.000000	0.71417	0.974000	0.42286	0.971000	0.66376	3.487000	0.53222	2.281000	0.76405	0.462000	0.41574	CTT		0.657	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196		T	114261040	G	T	114261040	3	4	718	1	0	0	0	0	1	0	0	0	13127	1000	35	4	14	4	RBM19	12	114261040	Missense_Mutation	SNP	G	TCGA-KM-8440-01A-11D-2310-10	64824650	114261040	19590855	32	40265											
FOXO1	2308	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	13	41134356	41134356	+	Nonsense_Mutation	SNP	A	A	T			TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr13:41134356A>T	ENST00000379561.5	-	2	1656	c.1272T>A	c.(1270-1272)taT>taA	p.Y424*	FOXO1_ENST00000473775.1_5'Flank	NM_002015.3	NP_002006.2	Q12778	FOXO1_HUMAN	forkhead box O1	424	Required for interaction with RUNX2. {ECO:0000250}.|Sufficient for interaction with NLK. {ECO:0000250}.				apoptotic process (GO:0006915)|autophagy (GO:0006914)|blood vessel development (GO:0001568)|cellular glucose homeostasis (GO:0001678)|cellular response to cold (GO:0070417)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hyperoxia (GO:0071455)|cellular response to insulin stimulus (GO:0032869)|cellular response to nitric oxide (GO:0071732)|cellular response to oxidative stress (GO:0034599)|cellular response to starvation (GO:0009267)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|fat cell differentiation (GO:0045444)|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 apoptotic process (GO:0043066)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|regulation of cell proliferation (GO:0042127)|regulation of energy homeostasis (GO:2000505)|regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter (GO:0035947)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|protein phosphatase 2A binding (GO:0051721)|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)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)		PAX7/FOXO1(197)|PAX3/FOXO1(749)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	20		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		GGCCATATGTATATTTTTGGT	0.488																																																0													127	115	119					13																	41134356		2203	4300	6503	SO:0001587	stop_gained	2308				CCDS9371.1	13q14.1	2011-08-01	2007-05-02	2007-05-02	ENSG00000150907	ENSG00000150907		"Forkhead boxes"	3819	protein-coding gene	gene with protein product		136533	"forkhead homolog in rhabdomyosarcoma"	FKHR, FOXO1A		8275086, 15057823	Standard	NM_002015		Approved	FKH1	uc001uxl.4	Q12778	OTTHUMG00000016775	ENST00000379561.5:c.1272T>A	13.37:g.41134356A>T	ENSP00000368880:p.Tyr424*		O43523|Q5VYC7|Q6NSK6	Nonsense_Mutation	SNP	ENST00000379561.5	37	CCDS9371.1	.	.	.	.	.	.	.	.	.	.	A	36	5.891446	0.97074	.	.	ENSG00000150907	ENST00000379561	.	.	.	5.78	-3.28	0.05033	.	0.164042	0.56097	D	0.000027	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.8585	14.9205	0.70835	0.6511:0.0:0.3489:0.0	.	.	.	.	X	424	.	ENSP00000368880:Y424X	Y	-	3	2	FOXO1	40032356	0.044000	0.20184	0.032000	0.17829	0.584000	0.36387	-0.617000	0.05584	-0.725000	0.04901	-0.959000	0.02639	TAT		0.488	FOXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044634.3	NM_002015		T	41134356	A	T	41134356	4	4	718	1	0	0	0	0	0	1	0	0	6025	456	16	5	699	5	FOXO1	13	41134356	Nonsense_Mutation	SNP	A	TCGA-KM-8440-01A-11D-2310-10		41134356	74035522	33	40266											
DZIP1	22873	bcgsc.ca	37	13	96293631	96293631	+	Missense_Mutation	SNP	G	G	A	rs9561921	byFrequency	TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr13:96293631G>A	ENST00000376829.2	-	5	1366	c.515C>T	c.(514-516)aCg>aTg	p.T172M	DZIP1_ENST00000361396.2_Missense_Mutation_p.T172M|DZIP1_ENST00000347108.3_Missense_Mutation_p.T172M|DZIP1_ENST00000361156.3_Missense_Mutation_p.T172M|DZIP1_ENST00000466027.1_5'UTR	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	172			T -> M (in dbSNP:rs9561921).		cilium assembly (GO:0042384)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			TTCCTTGAGCGTCTTGATCTC	0.602													G|||	493	0.0984425	0.112	0.0922	5008	,	,		16754	0.1716		0.0656	False		,,,				2504	0.0429															0								G	MET/THR,MET/THR	475,3931	223.9+/-240.3	30,415,1758	112	71	85		515,515	3.5	0.1	13	dbSNP_119	85	758,7842	181.3+/-230.0	34,690,3576	yes	missense,missense	DZIP1	NM_014934.3,NM_198968.2	81,81	64,1105,5334	AA,AG,GG		8.814,10.7808,9.4802	benign,benign	172/849,172/868	96293631	1233,11773	2203	4300	6503	SO:0001583	missense	22873			AB023213	CCDS9477.1, CCDS9478.1	13q32.1	2013-05-22	2013-05-22		ENSG00000134874	ENSG00000134874		"Zinc fingers, C2H2-type"	20908	protein-coding gene	gene with protein product		608671	"DAZ interacting protein 1"				Standard	NM_014934		Approved	KIAA0996, DZIP	uc001vmk.4	Q86YF9	OTTHUMG00000017224	ENST00000376829.2:c.515C>T	13.37:g.96293631G>A	ENSP00000366025:p.Thr172Met		Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Missense_Mutation	SNP	ENST00000376829.2	37	CCDS9478.1	265	0.12133699633699634	68	0.13821138211382114	43	0.11878453038674033	102	0.17832167832167833	52	0.06860158311345646	G	1.494	-0.553964	0.03996	0.107808	0.08814	ENSG00000134874	ENST00000347108;ENST00000361156;ENST00000361396;ENST00000376829	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	4.68	3.49	0.39957	.	1.685550	0.02965	N	0.143627	T	0.00039	0.0001	N	0.02011	-0.69	0.80722	P	0.0	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.09840	-1.0656	9	0.39692	T	0.17	-7.0E-4	4.2879	0.10863	0.5511:0.1859:0.263:0.0	rs9561921;rs57792076;rs9561921	172;172	Q86YF9-2;Q86YF9	.;DZIP1_HUMAN	M	172	ENSP00000257312:T172M;ENSP00000355018:T172M;ENSP00000355175:T172M;ENSP00000366025:T172M	ENSP00000257312:T172M	T	-	2	0	DZIP1	95091632	0.000000	0.05858	0.139000	0.22197	0.002000	0.02628	0.646000	0.24797	0.661000	0.30985	-0.238000	0.12139	ACG		0.602	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045496.3	NM_014934		A	96293631	G	A	96293631	3	1	718	1	0	0	0	0	1	0	0	0	4865	1145	40	1	2164	1	DZIP1	13	96293631	Missense_Mutation	SNP	G	TCGA-KM-8440-01A-11D-2310-10	55159275	96293631	18876247	34	40267											
DDX24	57062	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	14	94524209	94524209	+	Missense_Mutation	SNP	C	C	A			TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr14:94524209C>A	ENST00000330836.5	-	6	2079	c.1948G>T	c.(1948-1950)Ggt>Tgt	p.G650C	DDX24_ENST00000555054.1_Missense_Mutation_p.G607C|DDX24_ENST00000544005.1_Missense_Mutation_p.G400C	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	650	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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)		ATATCCAGACCCCGAGCTGCC	0.423																																																0													56	56	56					14																	94524209		2203	4300	6503	SO:0001583	missense	57062			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.1948G>T	14.37:g.94524209C>A	ENSP00000328690:p.Gly650Cys		E7EMJ4|Q4V9L5	Missense_Mutation	SNP	ENST00000330836.5	37	CCDS9918.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.926437	0.92319	.	.	ENSG00000089737	ENST00000330836;ENST00000544005;ENST00000440370;ENST00000543787;ENST00000555054;ENST00000542247	T;T;T	0.63417	-0.04;-0.04;-0.04	5.5	5.5	0.81552	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.87861	0.6284	H	0.98199	4.17	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91925	0.5550	10	0.87932	D	0	8.0052	19.7499	0.96263	0.0:1.0:0.0:0.0	.	650	Q9GZR7	DDX24_HUMAN	C	650;400;595;276;607;607	ENSP00000328690:G650C;ENSP00000440623:G400C;ENSP00000452145:G607C	ENSP00000328690:G650C	G	-	1	0	DDX24	93593962	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	7.818000	0.86416	2.729000	0.93468	0.563000	0.77884	GGT		0.423	DDX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412861.1	NM_020414		A	94524209	C	A	94524209	3	1	718	1	0	0	0	0	1	0	0	0	4353	623	22	4	647	4	DDX24	14	94524209	Missense_Mutation	SNP	C	TCGA-KM-8440-01A-11D-2310-10		94524209	12825331	35	40268											
CSK	1445	broad.mit.edu	37	15	75093415	75093415	+	Missense_Mutation	SNP	T	T	C			TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr15:75093415T>C	ENST00000220003.9	+	9	1514	c.785T>C	c.(784-786)cTc>cCc	p.L262P	CSK_ENST00000439220.2_Missense_Mutation_p.L262P|CSK_ENST00000567571.1_Missense_Mutation_p.L262P|CSK_ENST00000309470.9_Missense_Mutation_p.L262P	NM_004383.2	NP_004374.1	P41240	CSK_HUMAN	c-src tyrosine kinase	262	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adherens junction organization (GO:0034332)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cellular response to peptide hormone stimulus (GO:0071375)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of bone resorption (GO:0045779)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of kinase activity (GO:0033673)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of phagocytosis (GO:0050765)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060368)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein C-terminus binding (GO:0008022)|protein tyrosine kinase activity (GO:0004713)	p.L262R(1)		central_nervous_system(1)|lung(2)	3						AAGGGCGGGCTCTACATCGTC	0.642																																																1	Substitution - Missense(1)	skin(1)											86	87	86					15																	75093415		2197	4296	6493	SO:0001583	missense	1445				CCDS10269.1	15q24.1	2013-02-14			ENSG00000103653	ENSG00000103653	2.7.10.1	"SH2 domain containing"	2444	protein-coding gene	gene with protein product		124095				1377109	Standard	NM_004383		Approved		uc010bka.3	P41240	OTTHUMG00000142814	ENST00000220003.9:c.785T>C	15.37:g.75093415T>C	ENSP00000220003:p.Leu262Pro		Q2M3N2|Q6FGZ6	Missense_Mutation	SNP	ENST00000220003.9	37	CCDS10269.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.382491	0.82792	.	.	ENSG00000103653	ENST00000220003;ENST00000439220;ENST00000451345;ENST00000309470	T;T;T	0.38560	1.13;1.13;1.13	5.4	5.4	0.78164	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	0.000004	T	0.50017	0.1591	L	0.33189	0.99	0.80722	D	1	D	0.59357	0.985	D	0.66351	0.943	T	0.52983	-0.8502	10	0.87932	D	0	-20.0374	10.6013	0.45369	0.0:0.0779:0.0:0.9221	.	262	P41240	CSK_HUMAN	P	262;262;211;262	ENSP00000220003:L262P;ENSP00000414764:L262P;ENSP00000438808:L262P	ENSP00000220003:L262P	L	+	2	0	CSK	72880468	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	7.553000	0.82203	2.043000	0.60533	0.482000	0.46254	CTC		0.642	CSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286398.2	NM_004383		C	75093415	T	C	75093415	3	2	718	1	0	0	0	0	1	0	0	0	3945	1551	54	3	815	3	CSK	15	75093415	Missense_Mutation	SNP	T	TCGA-KM-8440-01A-11D-2310-10		75093415	27437977	36	40269											
KIAA0430	9665	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	16	15695994	15695994	+	Missense_Mutation	SNP	C	C	A			TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr16:15695994C>A	ENST00000396368.3	-	23	4686	c.4480G>T	c.(4480-4482)Gtg>Ttg	p.V1494L	KIAA0430_ENST00000602337.1_Missense_Mutation_p.V1491L|KIAA0430_ENST00000344181.3_Missense_Mutation_p.V1177L|KIAA0430_ENST00000551742.1_Missense_Mutation_p.V1494L|KIAA0430_ENST00000547936.1_5'UTR|KIAA0430_ENST00000548025.1_Missense_Mutation_p.V1491L|KIAA0430_ENST00000540441.2_Missense_Mutation_p.V1329L	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	1494	HTH OST-type 8. {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						AAAGACCGCACATTCTTTGCA	0.388																																																0													205	206	206					16																	15695994		1888	4121	6009	SO:0001583	missense	9665			AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29562	protein-coding gene	gene with protein product	"limkain b1", "protein phosphatase 1, regulatory subunit 34", "meiosis arrest female 1"	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.4480G>T	16.37:g.15695994C>A	ENSP00000379654:p.Val1494Leu		A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	ENST00000396368.3	37	CCDS10562.2	.	.	.	.	.	.	.	.	.	.	C	16.56	3.157561	0.57368	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56	5.69	5.69	0.88448	.	0.063140	0.64402	D	0.000007	T	0.45256	0.1333	L	0.36672	1.1	0.28960	N	0.88988	D;P;P;D	0.71674	0.997;0.88;0.88;0.998	D;B;B;D	0.80764	0.99;0.23;0.23;0.994	T	0.36138	-0.9760	10	0.11485	T	0.65	.	19.816	0.96568	0.0:1.0:0.0:0.0	.	1493;1491;1490;1493	Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;LKAP_HUMAN	L	1494;1329;1434;1177;1491;1494;1355	ENSP00000379654:V1494L;ENSP00000439819:V1329L;ENSP00000341939:V1177L;ENSP00000449376:V1491L;ENSP00000450309:V1494L	ENSP00000315718:V1434L	V	-	1	0	KIAA0430	15603495	1.000000	0.71417	0.985000	0.45067	0.188000	0.23474	4.643000	0.61390	2.687000	0.91594	0.561000	0.74099	GTG		0.388	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647		A	15695994	C	A	15695994	3	1	718	1	0	0	0	0	1	0	0	0	8179	478	17	4	768	4	KIAA0430	16	15695994	Missense_Mutation	SNP	C	TCGA-KM-8440-01A-11D-2310-10		15695994	74658759	37	40270											
COQ7	10229	mdanderson.org;bcgsc.ca	37	16	19085298	19085298	+	Missense_Mutation	SNP	C	C	T	rs11074359	byFrequency	TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr16:19085298C>T	ENST00000321998.5	+	3	374	c.308C>T	c.(307-309)aCg>aTg	p.T103M	COQ7_ENST00000569127.1_Missense_Mutation_p.T80M|COQ7_ENST00000568985.1_Missense_Mutation_p.T103M|COQ7_ENST00000544894.2_Missense_Mutation_p.T65M	NM_016138.4	NP_057222.2	Q99807	COQ7_HUMAN	coenzyme Q7 homolog, ubiquinone (yeast)	103	2 X approximate tandem repeats.		T -> M (in dbSNP:rs11074359). {ECO:0000269|PubMed:10373327, ECO:0000269|PubMed:10501970, ECO:0000269|PubMed:11230166, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:9020081}.		age-dependent response to oxidative stress (GO:0001306)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|in utero embryonic development (GO:0001701)|mitochondrial ATP synthesis coupled electron transport (GO:0042775)|mitochondrion morphogenesis (GO:0070584)|neural tube formation (GO:0001841)|neurogenesis (GO:0022008)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|large_intestine(1)|lung(3)|prostate(1)|skin(3)|urinary_tract(1)	10						TTGATGGTTACGTTCAGGGTC	0.448													C|||	2878	0.574681	0.2655	0.6196	5008	,	,		19214	0.8145		0.6461	False		,,,				2504	0.6401															0								C	MET/THR,MET/THR	1489,2905	475.2+/-357.2	229,1031,937	125	104	111		194,308	5.9	0.3	16	dbSNP_120	111	5496,3104	657.7+/-401.5	1773,1950,577	yes	missense,missense	COQ7	NM_001190983.1,NM_016138.4	81,81	2002,2981,1514	TT,TC,CC		36.093,33.8871,46.2444	possibly-damaging,possibly-damaging	65/180,103/218	19085298	6985,6009	2197	4300	6497	SO:0001583	missense	10229			U81276	CCDS10574.1, CCDS53993.1	16p12.3	2008-05-14	2001-11-28		ENSG00000167186	ENSG00000167186			2244	protein-coding gene	gene with protein product		601683	"coenzyme Q, 7 (rat, yeast) homolog"			9020081, 10373325	Standard	NM_016138		Approved	CLK-1, CAT5	uc002dfr.3	Q99807	OTTHUMG00000131455	ENST00000321998.5:c.308C>T	16.37:g.19085298C>T	ENSP00000322316:p.Thr103Met		B2RDA9|Q9BTT7|Q9H0T5|Q9UEW5|Q9UNR5	Missense_Mutation	SNP	ENST00000321998.5	37	CCDS10574.1	1329	0.6085164835164835	146	0.2967479674796748	225	0.6215469613259669	473	0.8269230769230769	485	0.6398416886543535	C	18.35	3.605641	0.66445	0.338871	0.63907	ENSG00000167186	ENST00000321998;ENST00000544894	T;T	0.43688	0.94;0.94	5.91	5.91	0.95273	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);	0.424017	0.29616	N	0.011650	T	0.00012	0.0000	L	0.39898	1.24	0.80722	P	0.0	P	0.47034	0.889	P	0.50109	0.631	T	0.13791	-1.0496	9	0.66056	D	0.02	-4.7588	19.9089	0.97019	0.0:1.0:0.0:0.0	rs11074359;rs17357840;rs60588972;rs11074359	103	Q99807	COQ7_HUMAN	M	103;65	ENSP00000322316:T103M;ENSP00000442923:T65M	ENSP00000322316:T103M	T	+	2	0	COQ7	18992799	0.228000	0.23718	0.328000	0.25416	0.913000	0.54294	3.071000	0.50041	2.793000	0.96121	0.655000	0.94253	ACG		0.448	COQ7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254275.3	NM_016138		T	19085298	C	T	19085298	3	4	718	1	0	0	0	0	1	0	0	0	3752	536	19	1	318	1	COQ7	16	19085298	Missense_Mutation	SNP	C	TCGA-KM-8440-01A-11D-2310-10	3389304	19085298	71269455	38	40271											
CES7	221223	bcgsc.ca	37	16	55883563	55883563	+	Missense_Mutation	SNP	A	A	G			TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr16:55883563A>G	ENST00000290567.9	-	11	1517	c.1396T>C	c.(1396-1398)Ttc>Ctc	p.F466L	CES5A_ENST00000520435.1_Missense_Mutation_p.F436L|CES5A_ENST00000521992.1_Missense_Mutation_p.F495L|CES5A_ENST00000319165.9_Intron|CES5A_ENST00000541580.1_5'UTR|CES5A_ENST00000518005.1_Missense_Mutation_p.F360L	NM_001143685.1	NP_001137157.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	466						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CCCTTCAGGAAGGCACCACCG	0.552																																																0													190	164	172					16																	55883563		1568	3582	5150	SO:0001583	missense	221223			AK090997	CCDS10755.1, CCDS45490.1, CCDS54012.1	16q13	2010-10-12	2010-10-12	2010-10-12	ENSG00000159398	ENSG00000159398	3.1.1.1	"Carboxylesterases"	26459	protein-coding gene	gene with protein product			"carboxylesterase 7"	CES7		20931200	Standard	NM_145024		Approved	FLJ31547, CES4C1, CES5, CAUXIN	uc021tir.1	Q6NT32	OTTHUMG00000133236	ENST00000290567.9:c.1396T>C	16.37:g.55883563A>G	ENSP00000290567:p.Phe466Leu		B7Z252|B7ZLB6|Q8NBC8|Q96DN9	Missense_Mutation	SNP	ENST00000290567.9	37	CCDS45490.1	.	.	.	.	.	.	.	.	.	.	.	15.06	2.721874	0.48728	.	.	ENSG00000159398	ENST00000521992;ENST00000518005;ENST00000290567;ENST00000520435;ENST00000541580	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	5.16	4.07	0.47477	Carboxylesterase, type B (1);	0.594901	0.15246	N	0.272633	T	0.46171	0.1379	N	0.25380	0.74	0.39277	D	0.964483	B	0.19331	0.035	B	0.26202	0.067	T	0.24584	-1.0156	10	0.10111	T	0.7	.	9.7766	0.40623	0.9157:0.0:0.0843:0.0	.	466	Q6NT32	EST5A_HUMAN	L	495;360;466;436;246	ENSP00000428864:F495L;ENSP00000428571:F360L;ENSP00000290567:F466L;ENSP00000428887:F436L	ENSP00000290567:F466L	F	-	1	0	CES5A	54441064	0.999000	0.42202	1.000000	0.80357	0.950000	0.60333	0.852000	0.27764	1.046000	0.40249	-0.274000	0.10170	TTC		0.552	CES5A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256975.3	NM_145024		G	55883563	A	G	55883563	3	3	718	1	0	0	0	0	1	0	0	0	3274	72	3	3	343	3	CES7	16	55883563	Missense_Mutation	SNP	A	TCGA-KM-8440-01A-11D-2310-10	36798265	55883563	34471190	39	40272											
PKD1L2	114780	hgsc.bcm.edu;bcgsc.ca	37	16	81213360	81213360	+	RNA	SNP	C	C	T			TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr16:81213360C>T	ENST00000527937.1	-	0	208				PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000531391.1_RNA|PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000337114.4_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						CCAAAATCCTCTGAGTCTGCA	0.597																																																0													61	63	63					16																	81213360		1958	4156	6114			114780			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.81213360C>T			Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000527937.1	37		.	.	.	.	.	.	.	.	.	.	C	7.712	0.695352	0.15106	.	.	ENSG00000166473	ENST00000531391;ENST00000337114;ENST00000527937	T;T;T	0.69306	2.5;-0.39;2.15	5.02	-3.31	0.04988	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	1.373740	0.04784	N	0.430403	T	0.52256	0.1723	.	.	.	0.09310	N	1	B;B;B	0.28933	0.103;0.228;0.082	B;B;B	0.28011	0.085;0.083;0.019	T	0.42413	-0.9453	9	0.54805	T	0.06	7.5086	5.859	0.18736	0.0:0.3056:0.3519:0.3425	.	32;717;717	Q7Z442-6;Q7Z442-3;Q7Z442	.;.;PK1L2_HUMAN	K	32;717;32	ENSP00000436309:R32K;ENSP00000337397:R717K;ENSP00000432818:R32K	ENSP00000337397:R717K	R	-	2	0	PKD1L2	79770861	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-2.213000	0.01224	-1.028000	0.03321	0.462000	0.41574	AGA		0.597	PKD1L2-007	KNOWN	basic|exp_conf	protein_coding	polymorphic_pseudogene	OTTHUMT00000387978.1			T	81213360	C	T	81213360	1	4	718	0	1	0	0	0	0	0	0	0	11967	913	32	2		2	PKD1L2	16	81213360	RNA	SNP	C	TCGA-KM-8440-01A-11D-2310-10	25329797	81213360	9141393	40	40273											
GLP2R	9340	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	17	9763353	9763353	+	Missense_Mutation	SNP	C	C	T	rs145296340		TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr17:9763353C>T	ENST00000262441.5	+	7	1373	c.860C>T	c.(859-861)aCg>aTg	p.T287M	GLP2R_ENST00000574745.1_Missense_Mutation_p.T107M	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	287					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|positive regulation of cell proliferation (GO:0008284)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|glucagon receptor activity (GO:0004967)			endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)|Teduglutide(DB08900)	TACCTCCACACGCTGCTGGAG	0.577													C|||	1	0.000199681	0.0	0.0	5008	,	,		14640	0.0		0.001	False		,,,				2504	0.0															0								C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	81	70	74		860	3.2	0	17	dbSNP_134	74	17,8583	11.9+/-42.8	0,17,4283	yes	missense	GLP2R	NM_004246.1	81	0,18,6485	TT,TC,CC		0.1977,0.0227,0.1384	possibly-damaging	287/554	9763353	18,12988	2203	4300	6503	SO:0001583	missense	9340			AF105367	CCDS11150.1	17p13.3	2012-08-10			ENSG00000065325	ENSG00000065325		"GPCR / Class B : Glucagon receptors"	4325	protein-coding gene	gene with protein product		603659				9990065	Standard	NM_004246		Approved		uc002gmd.1	O95838	OTTHUMG00000130269	ENST00000262441.5:c.860C>T	17.37:g.9763353C>T	ENSP00000262441:p.Thr287Met		Q4VAT3	Missense_Mutation	SNP	ENST00000262441.5	37	CCDS11150.1	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	C|C	2.108|2.108	-0.404495|-0.404495	0.04832|0.04832	2.27E-4|2.27E-4	0.001977|0.001977	ENSG00000065325|ENSG00000065325	ENST00000458005|ENST00000396206;ENST00000304773;ENST00000262441	.|T	.|0.36699	.|1.24	5.34|5.34	3.25|3.25	0.37280|0.37280	.|GPCR, family 2-like (1);	.|1.422570	.|0.05107	.|N	.|0.488161	T|T	0.50274|0.50274	0.1606|0.1606	L|L	0.56124|0.56124	1.755|1.755	0.09310|0.09310	N|N	1|1	.|P	.|0.43412	.|0.806	.|P	.|0.48770	.|0.589	T|T	0.52328|0.52328	-0.8590|-0.8590	5|10	.|0.87932	.|D	.|0	.|.	14.9932|14.9932	0.71406|0.71406	0.0:0.5598:0.4402:0.0|0.0:0.5598:0.4402:0.0	.|.	.|287	.|O95838	.|GLP2R_HUMAN	C|M	140|287;262;287	.|ENSP00000262441:T287M	.|ENSP00000262441:T287M	R|T	+|+	1|2	0|0	GLP2R|GLP2R	9704078|9704078	0.026000|0.026000	0.19158|0.19158	0.000000|0.000000	0.03702|0.03702	0.012000|0.012000	0.07955|0.07955	0.682000|0.682000	0.25335|0.25335	0.657000|0.657000	0.30906|0.30906	0.655000|0.655000	0.94253|0.94253	CGC|ACG		0.577	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252601.4			T	9763353	C	T	9763353	3	4	718	1	0	0	0	0	1	0	0	0	6455	536	19	1	886	1	GLP2R	17	9763353	Missense_Mutation	SNP	C	TCGA-KM-8440-01A-11D-2310-10		9763353	71431857	41	40274											
KCNJ12	3768	hgsc.bcm.edu	37	17	21318691	21318692	+	Frame_Shift_Del	DEL	GT	GT	-	rs556074330	byFrequency	TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	GT	GT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr17:21318691_21318692delGT	ENST00000583088.1	+	3	932_933	c.37_38delGT	c.(37-39)gtgfs	p.V13fs	KCNJ12_ENST00000331718.5_Frame_Shift_Del_p.V13fs	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	13					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)	CTACAGCATCGTGTCATCGGAG	0.708										Prostate(3;0.18)				24	0.00479233	0.0174	0.0014	5008	,	,		32853	0.0		0.0	False		,,,				2504	0.0															0																																										SO:0001589	frameshift_variant	100134444			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.37_38delGT	17.37:g.21318693_21318694delGT	ENSP00000463778:p.Val13fs		O43401|Q15756|Q8NG63	Frame_Shift_Del	DEL	ENST00000583088.1	37	CCDS11219.1																																																																																				0.708	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		-	21318692	GT	-	21318691	7	5	718	1	0	1	0	1	0	0	0	0	8048	1145	40	0	39	0	KCNJ12	17	21318691	Frame_Shift_Del	DEL	GT	TCGA-KM-8440-01A-11D-2310-10	11555338	21318691	59876519	42	40275											
HEXIM1	10614	ucsc.edu	37	17	43226939	43226939	+	Missense_Mutation	SNP	A	A	G			TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr17:43226939A>G	ENST00000332499.2	+	1	2256	c.382A>G	c.(382-384)Agt>Ggt	p.S128G	AC002117.1_ENST00000452741.1_RNA|AC002117.1_ENST00000589950.1_RNA	NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	128					heart development (GO:0007507)|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)			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CTCCGAGGCCAGTAAGTTGGG	0.652											OREG0024474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													9	12	11					17																	43226939		2179	4275	6454	SO:0001583	missense	10614			AB021179	CCDS11495.1	17q21.31	2006-03-28				ENSG00000186834			24953	protein-coding gene	gene with protein product		607328				12119119, 12832472	Standard	NM_006460		Approved	CLP-1, HIS1, MAQ1, EDG1	uc002iig.3	O94992		ENST00000332499.2:c.382A>G	17.37:g.43226939A>G	ENSP00000328773:p.Ser128Gly	914	B2R8Y5	Missense_Mutation	SNP	ENST00000332499.2	37	CCDS11495.1	.	.	.	.	.	.	.	.	.	.	A	9.214	1.031790	0.19590	.	.	ENSG00000186834	ENST00000332499	.	.	.	4.33	0.526	0.17078	.	0.614097	0.13321	U	0.396724	T	0.14874	0.0359	N	0.08118	0	0.22803	N	0.998716	B	0.02656	0.0	B	0.01281	0.0	T	0.22626	-1.0211	9	0.23302	T	0.38	-5.1148	4.2217	0.10561	0.4485:0.429:0.1225:0.0	.	128	O94992	HEXI1_HUMAN	G	128	.	ENSP00000328773:S128G	S	+	1	0	HEXIM1	40582722	0.900000	0.30661	0.829000	0.32907	0.695000	0.40330	1.409000	0.34680	0.189000	0.20188	0.459000	0.35465	AGT		0.652	HEXIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449821.2	NM_006460		G	43226939	A	G	43226939	3	3	718	1	0	0	0	0	1	0	0	0	7078	188	7	3	384	3	HEXIM1	17	43226939	Missense_Mutation	SNP	A	TCGA-KM-8440-01A-11D-2310-10	21908248	43226939	37968271	43	40276											
TSEN54	283989	mdanderson.org	37	17	73518328	73518328	+	Missense_Mutation	SNP	A	A	C	rs77247739	byFrequency	TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr17:73518328A>C	ENST00000333213.6	+	8	1202	c.1166A>C	c.(1165-1167)cAg>cCg	p.Q389P		NM_207346.2	NP_997229.2	Q7Z6J9	SEN54_HUMAN	TSEN54 tRNA splicing endonuclease subunit	389					mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)	13	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CAGCGGCGGCAGGTGCAGAGG	0.716													A|||	354	0.0706869	0.0976	0.0648	5008	,	,		13683	0.0		0.0984	False		,,,				2504	0.0828															0								A	PRO/GLN	290,3664		11,268,1698	5	5	5		1166	-0.1	0	17	dbSNP_131	5	522,7188		9,504,3342	no	missense	TSEN54	NM_207346.2	76	20,772,5040	CC,CA,AA		6.7704,7.3343,6.9616	benign	389/527	73518328	812,10852	1977	3855	5832	SO:0001583	missense	283989			AK097583	CCDS11724.1	17q25.1	2013-08-06	2013-08-06		ENSG00000182173	ENSG00000182173		"tRNA splicing endonuclease subunits"	27561	protein-coding gene	gene with protein product		608755	"tRNA splicing endonuclease 54 homolog (SEN54, S. cerevisiae)", "tRNA splicing endonuclease 54 homolog (S. cerevisiae)"			15109492	Standard	NM_207346		Approved	SEN54, SEN54L	uc002jof.1	Q7Z6J9		ENST00000333213.6:c.1166A>C	17.37:g.73518328A>C	ENSP00000327487:p.Gln389Pro		Q86WV3|Q86XE4|Q8N9H2	Missense_Mutation	SNP	ENST00000333213.6	37	CCDS11724.1	162	0.07417582417582418	55	0.11178861788617886	36	0.09944751381215469	0	0.0	71	0.09366754617414248	A	3.847	-0.032674	0.07543	0.073343	0.067704	ENSG00000182173	ENST00000333213	T	0.58060	0.36	5.47	-0.0634	0.13777	.	0.913377	0.09679	N	0.770042	T	0.00936	0.0031	L	0.43152	1.355	0.80722	P	0.0	B	0.25609	0.13	B	0.22601	0.04	T	0.12528	-1.0544	9	0.33141	T	0.24	-2.0841	9.9457	0.41607	0.3984:0.0:0.6016:0.0	.	389	Q7Z6J9	SEN54_HUMAN	P	389	ENSP00000327487:Q389P	ENSP00000327487:Q389P	Q	+	2	0	TSEN54	71029923	0.000000	0.05858	0.004000	0.12327	0.007000	0.05969	0.306000	0.19279	0.036000	0.15547	0.533000	0.62120	CAG		0.716	TSEN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447618.1	NM_207346		C	73518328	A	C	73518328	3	2	718	1	0	0	0	0	1	0	0	0	16619	188	7	5	1196	5	TSEN54	17	73518328	Missense_Mutation	SNP	A	TCGA-KM-8440-01A-11D-2310-10	30291389	73518328	7676882	44	40277											
DNAH17	8632	bcgsc.ca	37	17	76455172	76455172	+	Missense_Mutation	SNP	C	C	T			TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr17:76455172C>T	ENST00000585328.1	-	61	9881	c.9757G>A	c.(9757-9759)Gtg>Atg	p.V3253M	DNAH17_ENST00000389840.5_Missense_Mutation_p.V3244M|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3244	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(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)			TTGGGCGCCACGTCGCAGTAG	0.612																																																0													142	140	141					17																	76455172		2203	4300	6503	SO:0001583	missense	8632			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.9757G>A	17.37:g.76455172C>T	ENSP00000465516:p.Val3253Met		O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37		.	.	.	.	.	.	.	.	.	.	C	25.0	4.597316	0.87055	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.80566	-1.39	5.35	5.35	0.76521	.	0.221905	0.31612	N	0.007342	D	0.94430	0.8208	H	0.99042	4.41	0.38273	D	0.942201	D	0.89917	1.0	D	0.97110	1.0	D	0.97749	1.0213	10	0.87932	D	0	.	18.6873	0.91570	0.0:1.0:0.0:0.0	.	3253	E7EUM8	.	M	3253;3244	ENSP00000374490:V3244M	ENSP00000300671:V3253M	V	-	1	0	DNAH17	73966767	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	7.254000	0.78329	2.491000	0.84063	0.655000	0.94253	GTG		0.612	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		T	76455172	C	T	76455172	3	4	718	1	0	0	0	0	1	0	0	0	4603	536	19	1	3700	1	DNAH17	17	76455172	Missense_Mutation	SNP	C	TCGA-KM-8440-01A-11D-2310-10	2936844	76455172	4740038	45	40278											
PIK3C3	5289	mdanderson.org;bcgsc.ca	37	18	39607490	39607490	+	Missense_Mutation	SNP	G	G	T			TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr18:39607490G>T	ENST00000262039.4	+	14	1654	c.1568G>T	c.(1567-1569)aGa>aTa	p.R523I	PIK3C3_ENST00000593098.1_Missense_Mutation_p.R8I|PIK3C3_ENST00000398870.3_Missense_Mutation_p.R460I	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	523					autophagic vacuole assembly (GO:0000045)|cytokinesis (GO:0000910)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein processing (GO:0016485)|regulation of protein secretion (GO:0050708)|response to leucine (GO:0043201)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)|midbody (GO:0030496)|phagocytic vesicle (GO:0045335)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						GTAATGAGAAGATTCAGCCAA	0.423										TSP Lung(28;0.18)																											NSCLC(37;552 1060 2683 16430 37914)											0													119	97	104					18																	39607490		2203	4300	6503	SO:0001583	missense	5289			Z46973	CCDS11920.1	18q12.3	2012-07-13	2012-07-13		ENSG00000078142	ENSG00000078142	2.7.1.137		8974	protein-coding gene	gene with protein product		602609	"phosphoinositide-3-kinase, class 3"			7628435	Standard	NM_002647		Approved	Vps34	uc002lap.3	Q8NEB9	OTTHUMG00000132593	ENST00000262039.4:c.1568G>T	18.37:g.39607490G>T	ENSP00000262039:p.Arg523Ile		Q15134	Missense_Mutation	SNP	ENST00000262039.4	37	CCDS11920.1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.570993	0.65765	.	.	ENSG00000078142	ENST00000262039;ENST00000398870	T;T	0.66099	-0.19;0.2	5.73	5.73	0.89815	Phosphoinositide 3-kinase, accessory (PIK) domain (1);	0.166870	0.52532	D	0.000076	T	0.64114	0.2569	M	0.64567	1.98	0.80722	D	1	B;B	0.26547	0.152;0.039	B;B	0.32928	0.155;0.065	T	0.58853	-0.7563	9	.	.	.	.	18.1556	0.89689	0.0:0.0:1.0:0.0	.	460;523	A8MYT4;Q8NEB9	.;PK3C3_HUMAN	I	523;460	ENSP00000262039:R523I;ENSP00000381845:R460I	.	R	+	2	0	PIK3C3	37861488	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	9.723000	0.98772	2.724000	0.93272	0.586000	0.80456	AGA		0.423	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255804.1	NM_002647		T	39607490	G	T	39607490	3	4	718	1	0	0	0	0	1	0	0	0	11914	942	33	4	1622	4	PIK3C3	18	39607490	Missense_Mutation	SNP	G	TCGA-KM-8440-01A-11D-2310-10		39607490	38469758	46	40279											
SIRT6	51548	mdanderson.org	37	19	4174859	4174859	+	Missense_Mutation	SNP	C	C	T	rs74317014	byFrequency	TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr19:4174859C>T	ENST00000337491.2	-	8	887	c.823G>A	c.(823-825)Gcc>Acc	p.A275T	SIRT6_ENST00000381935.3_Missense_Mutation_p.A203T|SIRT6_ENST00000601488.1_3'UTR|SIRT6_ENST00000594279.1_3'UTR|SIRT6_ENST00000305232.6_Missense_Mutation_p.A248T	NM_016539.2	NP_057623.2	Q8N6T7	SIR6_HUMAN	sirtuin 6	275					histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|protein ADP-ribosylation (GO:0006471)|regulation of double-strand break repair via homologous recombination (GO:0010569)	nuclear telomeric heterochromatin (GO:0005724)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(1)|lung(4)|ovary(1)|skin(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.023)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGTCCCAGGCGGGGATCTCC	0.697													C|||	70	0.0139776	0.0492	0.0072	5008	,	,		6715	0.0		0.0	False		,,,				2504	0.0															0								C	THR/ALA,THR/ALA	133,4099		1,131,1984	15	13	14		742,823	-0.8	0.7	19	dbSNP_131	14	2,8254		0,2,4126	yes	missense,missense	SIRT6	NM_001193285.1,NM_016539.2	58,58	1,133,6110	TT,TC,CC		0.0242,3.1427,1.081	benign,benign	248/329,275/356	4174859	135,12353	2116	4128	6244	SO:0001583	missense	51548			AF233396	CCDS12122.1, CCDS54199.1	19p13.3	2010-06-25	2010-06-25			ENSG00000077463			14934	protein-coding gene	gene with protein product		606211	"sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 6", "sirtuin (silent mating type information regulation 2 homolog) 6 (S. cerevisiae)"			10873683	Standard	NM_016539		Approved		uc002lzo.3	Q8N6T7		ENST00000337491.2:c.823G>A	19.37:g.4174859C>T	ENSP00000337332:p.Ala275Thr		B2RCD0|O75291|Q6IAF5|Q6PK99|Q8NCD2|Q9BSI5|Q9BWP3|Q9NRC7|Q9UQD1	Missense_Mutation	SNP	ENST00000337491.2	37	CCDS12122.1	26	0.011904761904761904	24	0.04878048780487805	2	0.0055248618784530384	0	0.0	0	0.0	C	10.99	1.507377	0.27036	0.031427	2.42E-4	ENSG00000077463	ENST00000337491;ENST00000305232;ENST00000381935	T;T;T	0.16897	2.31;2.31;2.31	4.28	-0.788	0.10939	.	0.510295	0.21114	N	0.079938	T	0.01092	0.0036	N	0.17723	0.515	0.26940	N	0.966267	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.001	T	0.34775	-0.9815	10	0.18276	T	0.48	-23.0487	5.7039	0.17897	0.0:0.6019:0.1408:0.2573	.	248;275	Q8N6T7-2;Q8N6T7	.;SIRT6_HUMAN	T	275;248;203	ENSP00000337332:A275T;ENSP00000305310:A248T;ENSP00000371360:A203T	ENSP00000305310:A248T	A	-	1	0	SIRT6	4125859	0.000000	0.05858	0.749000	0.31150	0.888000	0.51559	-0.184000	0.09698	-0.344000	0.08338	0.462000	0.41574	GCC		0.697	SIRT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457931.2			T	4174859	C	T	4174859	3	4	718	1	0	0	0	0	1	0	0	0	14348	768	27	1	248	1	SIRT6	19	4174859	Missense_Mutation	SNP	C	TCGA-KM-8440-01A-11D-2310-10		4174859	54954124	47	40280											
CACNA1A	773	mdanderson.org	37	19	13319693	13319693	+	Silent	SNP	A	A	G	rs16051	byFrequency	TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr19:13319693A>G	ENST00000360228.5	-	46	6656	c.6657T>C	c.(6655-6657)caT>caC	p.H2219H	CACNA1A_ENST00000573710.2_Silent_p.H2220H	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	2220	Poly-His.				adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	GGGGCGGGGGAtggtggtggt	0.731													g|||	3440	0.686901	0.7874	0.6081	5008	,	,		6615	0.7897		0.6252	False		,,,				2504	0.5644															0									,,,,	2283,905		898,487,209	3	4	3		6675,6660,6657,6666,6675		1	19	dbSNP_54	3	3993,3127		1321,1351,888	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CACNA1A	NM_000068.3,NM_001127221.1,NM_001127222.1,NM_001174080.1,NM_023035.2	,,,,	2219,1838,1097	GG,GA,AA		43.9185,28.3877,39.1153	,,,,	2225/2267,2220/2262,2219/2507,2222/2264,2225/2513	13319693	6276,4032	1594	3560	5154	SO:0001819	synonymous_variant	773			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.6657T>C	19.37:g.13319693A>G			J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Silent	SNP	ENST00000360228.5	37	CCDS45998.1																																																																																				0.731	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		G	13319693	A	G	13319693	2	3	718	1	0	0	0	0	0	0	0	1	2540	330	12	3		3	CACNA1A	19	13319693	Silent	SNP	A	TCGA-KM-8440-01A-11D-2310-10	9144834	13319693	45809290	48	40281											
CLEC17A	388512	broad.mit.edu	37	19	14710546	14710548	+	In_Frame_Del	DEL	CTA	CTA	-			TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	CTA	CTA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr19:14710546_14710548delCTA	ENST00000417570.1	+	11	702_704	c.664_666delCTA	c.(664-666)ctadel	p.L222del	CLEC17A_ENST00000547437.1_In_Frame_Del_p.L222del|CLEC17A_ENST00000397439.2_In_Frame_Del_p.L205del	NM_001204118.1	NP_001191047.1	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	222						cell surface (GO:0009986)|integral component of membrane (GO:0016021)	fucose binding (GO:0042806)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)										CATGGCAGGGCTAGCTGGCCTGA	0.547																																																0																																										SO:0001651	inframe_deletion	388512			AK127809	CCDS46002.1, CCDS46002.2, CCDS56087.1	19p13.12	2009-06-26			ENSG00000187912	ENSG00000187912		"C-type lectin domain containing"	34520	protein-coding gene	gene with protein product	"prolectin"					19419970	Standard	NM_207390		Approved	FLJ45910	uc010dzn.2	Q6ZS10		ENST00000417570.1:c.664_666delCTA	19.37:g.14710546_14710548delCTA	ENSP00000393719:p.Leu222del		A8MX68|B2RTX0|B7ZMM4	In_Frame_Del	DEL	ENST00000417570.1	37	CCDS56087.1																																																																																				0.547	CLEC17A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403400.1	NM_207390		-	14710548	CTA	-	14710546	7	5	718	1	0	1	0	1	0	0	0	0	3503	796	28	0	651	0	CLEC17A	19	14710546	In_Frame_Del	DEL	CTA	TCGA-KM-8440-01A-11D-2310-10	1390853	14710546	44418437	49	40282											
MRPS12	6183	bcgsc.ca	37	19	39423174	39423175	+	Frame_Shift_Ins	INS	-	-	GGCTCAGCACTGGCCGCGA	rs35977895	byFrequency	TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr19:39423174_39423175insGGCTCAGCACTGGCCGCGA	ENST00000407800.2	+	2	592_593	c.251_252insGGCTCAGCACTGGCCGCGA	c.(250-255)cggctcfs	p.L85fs	SARS2_ENST00000594171.1_5'Flank|SARS2_ENST00000430193.3_5'Flank|SARS2_ENST00000221431.6_5'Flank|MRPS12_ENST00000402029.3_Frame_Shift_Ins_p.L85fs|CTC-360G5.9_ENST00000599320.1_lincRNA|SARS2_ENST00000600042.1_5'Flank|CTC-360G5.8_ENST00000599996.1_Intron|MRPS12_ENST00000308018.4_Frame_Shift_Ins_p.L85fs|SARS2_ENST00000448145.2_Intron	NM_021107.1	NP_066930.1	O15235	RT12_HUMAN	mitochondrial ribosomal protein S12	85					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)			TGTCGAGTGCGGCTCAGCACTG	0.663																																																0																																										SO:0001589	frameshift_variant	6183			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		Exception_encountered	19.37:g.39423174_39423175insGGCTCAGCACTGGCCGCGA	ENSP00000384952:p.Leu85fs		Q53X98	Frame_Shift_Ins	INS	ENST00000407800.2	37	CCDS12525.1																																																																																				0.663	MRPS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463154.1			GGCTCAGCACTGGCCGCGA	39423175	-	GGCTCAGCACTGGCCGCGA	39423174	7	5	718	1	0	1	1	0	0	0	0	0	9825	1116	39	0	257	0	MRPS12	19	39423174	Frame_Shift_Ins	INS	-	TCGA-KM-8440-01A-11D-2310-10	24712628	39423174	19705809	50	40283											
LIPE	3991	mdanderson.org	37	19	42905986	42905986	+	Missense_Mutation	SNP	C	C	A			TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr19:42905986C>A	ENST00000244289.4	-	10	3485	c.3209G>T	c.(3208-3210)gGg>gTg	p.G1070V	LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000597203.1_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	1070					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)				CCCGCAGCCCCCGTCTACCCC	0.736																																																0													2	3	2					19																	42905986		1240	2515	3755	SO:0001583	missense	3991			L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3.1.1.3		6621	protein-coding gene	gene with protein product		151750				8506334	Standard	NM_005357		Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.3209G>T	19.37:g.42905986C>A	ENSP00000244289:p.Gly1070Val		Q3LRT2|Q6NSL7	Missense_Mutation	SNP	ENST00000244289.4	37	CCDS12607.1	.	.	.	.	.	.	.	.	.	.	C	11.04	1.522287	0.27211	.	.	ENSG00000079435	ENST00000244289	T	0.04317	3.65	3.11	2.05	0.26809	.	.	.	.	.	T	0.03695	0.0105	N	0.08118	0	0.18873	N	0.999986	P	0.52316	0.952	P	0.49140	0.601	T	0.45775	-0.9238	9	0.32370	T	0.25	.	5.9892	0.19452	0.0:0.7376:0.0:0.2624	.	1070	Q05469	LIPS_HUMAN	V	1070	ENSP00000244289:G1070V	ENSP00000244289:G1070V	G	-	2	0	LIPE	47597826	0.000000	0.05858	0.081000	0.20488	0.198000	0.23893	-0.333000	0.07894	0.595000	0.29777	-0.480000	0.04831	GGG		0.736	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463861.1	NM_005357		A	42905986	C	A	42905986	3	1	718	1	0	0	0	0	1	0	0	0	8823	623	22	4	25	4	LIPE	19	42905986	Missense_Mutation	SNP	C	TCGA-KM-8440-01A-11D-2310-10	3482812	42905986	16222997	51	40284											
KPTN	11133	broad.mit.edu	37	19	47987306	47987307	+	Frame_Shift_Ins	INS	-	-	C	rs540521125		TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr19:47987306_47987307insC	ENST00000338134.3	-	1	218_219	c.111_112insG	c.(109-114)gggcgcfs	p.R38fs	KPTN_ENST00000595484.1_5'UTR|KPTN_ENST00000536339.1_5'UTR|NAPA-AS1_ENST00000593284.1_RNA|NAPA-AS1_ENST00000594367.1_RNA	NM_007059.2	NP_008990.2	Q9Y664	KPTN_HUMAN	kaptin (actin binding protein)	38					actin filament organization (GO:0007015)|cellular component movement (GO:0006928)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(1)|lung(3)|ovary(2)|pancreas(2)	8		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)		AGCTccccgcgcccgccggcgc	0.683											OREG0025593	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0																																										SO:0001589	frameshift_variant	11133			AF105369	CCDS42583.1	19q13.32	2014-08-13	2001-11-28		ENSG00000118162	ENSG00000118162			6404	protein-coding gene	gene with protein product		615620	"kaptin (actin-binding protein)"			10099934	Standard	XM_005258467		Approved	2E4	uc002pgy.3	Q9Y664	OTTHUMG00000183443	ENST00000338134.3:c.112dupG	19.37:g.47987309_47987309dupC	ENSP00000337850:p.Arg38fs	951	B3KN86|B4DQ76|Q96GT1	Frame_Shift_Ins	INS	ENST00000338134.3	37	CCDS42583.1																																																																																				0.683	KPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466672.2			C	47987307	-	C	47987306	7	5	718	1	0	1	1	0	0	0	0	0	8439	1087	38	0	1246	0	KPTN	19	47987306	Frame_Shift_Ins	INS	-	TCGA-KM-8440-01A-11D-2310-10	5081320	47987306	11141677	52	40285											
DEFB132	400830	ucsc.edu	37	20	238441	238441	+	Silent	SNP	T	T	C	rs66489228|rs398088193|rs371825938|rs74636637		TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr20:238441T>C	ENST00000382376.3	+	1	65	c.22T>C	c.(22-24)Ttg>Ctg	p.L8L		NM_207469.2	NP_997352.1	Q7Z7B7	DB132_HUMAN	defensin, beta 132	8					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				breast(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	4						GCTCCTGGTCTTGGCAGCCCT	0.527																																																0													60	54	56					20																	238441		1843	3522	5365	SO:0001819	synonymous_variant	400830			AF525932	CCDS12993.1	20p13	2009-12-04	2008-10-23		ENSG00000186458	ENSG00000186458		"Defensins, beta"	33806	protein-coding gene	gene with protein product						18416833	Standard	NM_207469		Approved	RP5-1103G7.6, DEFB32	uc002wdb.3	Q7Z7B7	OTTHUMG00000043061	ENST00000382376.3:c.22T>C	20.37:g.238441T>C			B2RP72|Q4QY40	Silent	SNP	ENST00000382376.3	37	CCDS12993.1																																																																																				0.527	DEFB132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000101365.1	NM_207469		C	238441	T	C	238441	2	2	718	1	0	0	0	0	0	0	0	1	4419	1606	56	3		3	DEFB132	20	238441	Silent	SNP	T	TCGA-KM-8440-01A-11D-2310-10		238441	62787079	53	40286											
SIRPB1	10326	mdanderson.org	37	20	1592120	1592120	+	Intron	SNP	G	G	T	rs1135201		TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr20:1592120G>T	ENST00000381605.4	-	1	141				RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.R106S|SIRPB1_ENST00000381596.1_5'UTR|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000279477.7_Missense_Mutation_p.R106S	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1						cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						TTACTGATGCGGATGGAAAAG	0.512																																																0													105	121	117					20																	1592120		448	1337	1785	SO:0001627	intron_variant	10326			Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.76+8394C>A	20.37:g.1592120G>T			A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	ENST00000381605.4	37	CCDS13019.1	560	0.2564102564102564	150	0.3048780487804878	74	0.20441988950276244	183	0.31993006993006995	153	0.20184696569920843	.	2.402	-0.337253	0.05278	.	.	ENSG00000101307	ENST00000279477;ENST00000381596	T	0.65364	-0.15	2.65	-2.79	0.05841	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00012	0.0000	L	0.52266	1.64	0.34870	D	0.743495	B	0.31435	0.323	B	0.31869	0.137	T	0.37753	-0.9692	9	0.37606	T	0.19	.	4.2858	0.10855	0.1304:0.0:0.2968:0.5727	rs1135201;rs3197735	106	Q5TFQ8	SIRBL_HUMAN	S	106	ENSP00000279477:R106S	ENSP00000279477:R106S	R	-	1	0	SIRPB1	1540120	0.081000	0.21417	0.142000	0.22268	0.020000	0.10135	0.000000	0.12993	-0.294000	0.08973	-2.062000	0.00397	CGC		0.512	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		T	1592120	G	T	1592120	1	4	718	0	1	0	0	0	0	0	0	0	14339	1116	39	4		4	SIRPB1	20	1592120	Intron	SNP	G	TCGA-KM-8440-01A-11D-2310-10	1353679	1592120	61433400	54	40287											
DSCAM	1826	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	21	42080523	42080523	+	Missense_Mutation	SNP	C	C	T			TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr21:42080523C>T	ENST00000400454.1	-	2	695	c.218G>A	c.(217-219)cGc>cAc	p.R73H		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	73	Ig-like C2-type 1.				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)		p.R73L(1)		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)				GTGGACGTGGCGGATCCCGGG	0.547																																					Melanoma(134;970 1778 1785 21664 32388)											1	Substitution - Missense(1)	lung(1)											92	95	94					21																	42080523		1965	4156	6121	SO:0001583	missense	1826			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.218G>A	21.37:g.42080523C>T	ENSP00000383303:p.Arg73His		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.998174	0.93227	.	.	ENSG00000171587	ENST00000400454	T	0.38887	1.11	5.1	5.1	0.69264	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.62672	0.2447	M	0.64404	1.975	0.51767	D	0.999936	D	0.76494	0.999	D	0.80764	0.994	T	0.64918	-0.6294	10	0.66056	D	0.02	.	17.0669	0.86561	0.0:1.0:0.0:0.0	.	73	O60469	DSCAM_HUMAN	H	73	ENSP00000383303:R73H	ENSP00000383303:R73H	R	-	2	0	DSCAM	41002393	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.354000	0.79424	2.547000	0.85894	0.585000	0.79938	CGC		0.547	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		T	42080523	C	T	42080523	3	4	718	1	0	0	0	0	1	0	0	0	4770	768	27	1	5948	1	DSCAM	21	42080523	Missense_Mutation	SNP	C	TCGA-KM-8440-01A-11D-2310-10		42080523	6049372	55	40288											
KRTAP10-10	353333	mdanderson.org	37	21	46058034	46058034	+	Missense_Mutation	SNP	G	G	A	rs142158982	byFrequency	TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr21:46058034G>A	ENST00000380095.1	+	1	762	c.700G>A	c.(700-702)Gtg>Atg	p.V234M	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	234						keratin filament (GO:0045095)				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						CTGCCGCCCCGTGTGCTCCCG	0.692																																																0								G	,MET/VAL	54,4352		0,54,2149	54	58	57		,700	-2.9	0	21	dbSNP_134	57	16,8582		0,16,4283	no	intron,missense	TSPEAR,KRTAP10-10	NM_144991.2,NM_181688.1	,21	0,70,6432	AA,AG,GG		0.1861,1.2256,0.5383	,possibly-damaging	,234/252	46058034	70,12934	2203	4299	6502	SO:0001583	missense	353333			AJ566387	CCDS33585.1	21q22.3	2006-03-13			ENSG00000221859	ENSG00000221859		"Keratin associated proteins"	22972	protein-coding gene	gene with protein product							Standard	NM_181688		Approved	KAP10.10, KAP18.10, KRTAP18-10	uc002zfq.3	P60014	OTTHUMG00000057631	ENST00000380095.1:c.700G>A	21.37:g.46058034G>A	ENSP00000369438:p.Val234Met			Missense_Mutation	SNP	ENST00000380095.1	37	CCDS33585.1	94	0.04304029304029304	28	0.056910569105691054	7	0.019337016574585635	29	0.050699300699300696	30	0.0395778364116095	g	0.883	-0.728095	0.03135	0.012256	0.001861	ENSG00000221859	ENST00000380095	T	0.01215	5.16	3.52	-2.88	0.05682	.	.	.	.	.	T	0.00241	0.0007	M	0.71206	2.165	0.09310	N	1	B	0.20459	0.045	B	0.20955	0.032	T	0.38178	-0.9673	9	0.42905	T	0.14	.	5.1831	0.15171	0.3582:0.0:0.4952:0.1466	.	234	P60014	KR10A_HUMAN	M	234	ENSP00000369438:V234M	ENSP00000369438:V234M	V	+	1	0	KRTAP10-10	44882462	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.581000	0.02119	-0.564000	0.06070	-1.314000	0.01303	GTG		0.692	KRTAP10-10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128034.1	NM_181688		A	46058034	G	A	46058034	3	1	718	1	0	0	0	0	1	0	0	0	8508	1145	40	1	702	1	KRTAP10-10	21	46058034	Missense_Mutation	SNP	G	TCGA-KM-8440-01A-11D-2310-10	3977511	46058034	2071861	56	40289											
CLTCL1	8218	broad.mit.edu;bcgsc.ca	37	22	19203748	19203748	+	Missense_Mutation	SNP	A	A	G			TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr22:19203748A>G	ENST00000263200.10	-	19	3010	c.2938T>C	c.(2938-2940)Tca>Cca	p.S980P	CLTCL1_ENST00000353891.5_Missense_Mutation_p.S980P|CLTCL1_ENST00000427926.1_Missense_Mutation_p.S980P	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	980	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					CGTGTTTCTGACAATGCTGTC	0.408			T	?	ALCL																																		Dom	yes		22	22q11.21	8218	"clathrin, heavy polypeptide-like 1"		L	0													90	86	88					22																	19203748		1866	4109	5975	SO:0001583	missense	8218				CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"clathrin, heavy polypeptide-like 1"	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.2938T>C	22.37:g.19203748A>G	ENSP00000445677:p.Ser980Pro		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	37	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	A	0.617	-0.822774	0.02755	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.18657	2.2;2.2;2.2	3.4	2.35	0.29111	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.095551	0.44902	N	0.000401	T	0.08088	0.0202	N	0.04275	-0.24	0.58432	D	0.999999	B;B	0.13145	0.002;0.007	B;B	0.28638	0.022;0.092	T	0.27606	-1.0069	10	0.02654	T	1	-1.3257	8.3632	0.32372	0.9031:0.0:0.0969:0.0	.	980;980	P53675-2;P53675	.;CLH2_HUMAN	P	980	ENSP00000439662:S980P;ENSP00000445677:S980P;ENSP00000441158:S980P	ENSP00000445677:S980P	S	-	1	0	CLTCL1	17583748	1.000000	0.71417	0.988000	0.46212	0.591000	0.36615	3.759000	0.55227	0.495000	0.27882	0.460000	0.39030	TCA		0.408	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		G	19203748	A	G	19203748	3	3	718	1	0	0	0	0	1	0	0	0	3569	275	10	3	2040	3	CLTCL1	22	19203748	Missense_Mutation	SNP	A	TCGA-KM-8440-01A-11D-2310-10		19203748	32100818	57	40290											
SCARF2	91179	broad.mit.edu	37	22	20791941	20791943	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	AGC	AGC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr22:20791941_20791943delAGC	ENST00000266214.5	-	1	203_205	c.99_101delGCT	c.(97-102)ctgctc>ctc	p.33_34LL>L	SCARF2_ENST00000405555.3_In_Frame_Del_p.33_34LL>L	NM_153334.4	NP_699165.2	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	33					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)			CAGCATCCAGagcagcagcagca	0.778																																																0									,	41,2921		6,29,1446					,	2.4	1			4	128,6158		10,108,3025	no	coding,coding	SCARF2	NM_182895.2,NM_153334.4	,	16,137,4471	A1A1,A1R,RR		2.0363,1.3842,1.8274	,	,		169,9079				SO:0001651	inframe_deletion	91179			AF522196	CCDS13779.1, CCDS46666.1	22q11.21	2011-10-10			ENSG00000244486	ENSG00000244486			19869	protein-coding gene	gene with protein product		613619				12154095	Standard	XM_006724364		Approved	SREC-II, SREC2, HUMZD58C02	uc002zsk.2	Q96GP6	OTTHUMG00000150779	ENST00000266214.5:c.99_101delGCT	22.37:g.20791950_20791952delAGC	ENSP00000266214:p.Leu34del		E5RFB8|Q58A83|Q8IXF3|Q9BW74	In_Frame_Del	DEL	ENST00000266214.5	37	CCDS13779.1																																																																																				0.778	SCARF2-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320047.1			-	20791943	AGC	-	20791941	7	5	718	1	0	1	0	1	0	0	0	0	13890	304	11	0	2555	0	SCARF2	22	20791941	In_Frame_Del	DEL	AGC	TCGA-KM-8440-01A-11D-2310-10	1588193	20791941	30512625	58	40291											
PKDREJ	10343	broad.mit.edu	37	22	46653502	46653502	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr22:46653502C>T	ENST00000253255.5	-	1	5717	c.5718G>A	c.(5716-5718)tgG>tgA	p.W1906*		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1906					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)		TCTCATCCAGCCAATTGCTTT	0.393																																																0													109	115	113					22																	46653502		2203	4300	6503	SO:0001587	stop_gained	10343			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.5718G>A	22.37:g.46653502C>T	ENSP00000253255:p.Trp1906*		B1AJY3|O95850	Nonsense_Mutation	SNP	ENST00000253255.5	37	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	C	45	11.351184	0.99550	.	.	ENSG00000130943	ENST00000253255	.	.	.	5.55	5.55	0.83447	.	0.000000	0.56097	D	0.000023	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.1151	16.215	0.82206	0.0:1.0:0.0:0.0	.	.	.	.	X	1906	.	ENSP00000253255:W1906X	W	-	3	0	PKDREJ	45032166	1.000000	0.71417	1.000000	0.80357	0.722000	0.41435	4.876000	0.63079	2.618000	0.88619	0.455000	0.32223	TGG		0.393	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		T	46653502	C	T	46653502	4	4	718	1	0	0	0	0	0	1	0	0	11972	740	26	2	1047	2	PKDREJ	22	46653502	Nonsense_Mutation	SNP	C	TCGA-KM-8440-01A-11D-2310-10	25861561	46653502	4651064	59	40292											
MEGF6	1953	mdanderson.org	37	1	3413868	3413868	+	Missense_Mutation	SNP	C	C	G	rs4648506	byFrequency	TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr1:3413868C>G	ENST00000356575.4	-	27	3636	c.3410G>C	c.(3409-3411)gGc>gCc	p.G1137A	MEGF6_ENST00000294599.4_Missense_Mutation_p.G946A	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	1137	EGF-like 21. {ECO:0000255|PROSITE- ProRule:PRU00076}.		G -> A (in dbSNP:rs4648506). {ECO:0000269|PubMed:9693030}.			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)		GCAGGCAGCGCCAGGCGGGCA	0.716													C|||	1222	0.24401	0.146	0.3357	5008	,	,		12528	0.1865		0.3201	False		,,,				2504	0.2924				Ovarian(73;978 3658)											0								C	ALA/GLY	547,3569		48,451,1559	8	13	11		3410	0.1	0	1	dbSNP_111	11	2204,6092		339,1526,2283	no	missense	MEGF6	NM_001409.3	60	387,1977,3842	GG,GC,CC		26.567,13.2896,22.164	possibly-damaging	1137/1542	3413868	2751,9661	2058	4148	6206	SO:0001583	missense	1953			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.3410G>C	1.37:g.3413868C>G	ENSP00000348982:p.Gly1137Ala		Q4AC86|Q5VV39	Missense_Mutation	SNP	ENST00000356575.4	37	CCDS41237.1	532	0.24358974358974358	83	0.16869918699186992	101	0.27900552486187846	130	0.22727272727272727	218	0.287598944591029	C	12.32	1.903437	0.33628	0.132896	0.26567	ENSG00000162591	ENST00000294599;ENST00000356575	T;T	0.71934	-0.09;-0.61	4.36	0.0897	0.14460	EGF-like, laminin (2);Epidermal growth factor-like, type 3 (1);	0.182174	0.48286	N	0.000200	T	0.00012	0.0000	M	0.91663	3.23	0.40306	P	0.021338999999999997	P;P	0.51147	0.942;0.929	P;P	0.62435	0.902;0.841	T	0.05022	-1.0911	9	0.62326	D	0.03	-7.763	6.2955	0.21083	0.0:0.6314:0.1331:0.2355	rs4648506	1137;946	O75095;O75095-2	MEGF6_HUMAN;.	A	946;1137	ENSP00000294599:G946A;ENSP00000348982:G1137A	ENSP00000294599:G946A	G	-	2	0	MEGF6	3403728	0.002000	0.14202	0.000000	0.03702	0.135000	0.20990	0.253000	0.18296	-0.064000	0.13043	0.561000	0.74099	GGC		0.716	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	NM_001409		G	3413868	C	G	3413868	3	3	719	1	0	0	0	0	1	0	0	0	9464	739	26	4	1259	4	MEGF6	1	3413868	Missense_Mutation	SNP	C	TCGA-KM-8441-01A-11D-2310-10		3413868	245836753	1	40293											
MTOR	2475	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	11187847	11187847	+	Missense_Mutation	SNP	A	A	G			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr1:11187847A>G	ENST00000361445.4	-	44	6126	c.6050T>C	c.(6049-6051)aTc>aCc	p.I2017T	MTOR_ENST00000376838.1_Missense_Mutation_p.I222T	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2017	Sufficient for interaction with the FKBP1A/rapamycin complex. {ECO:0000250}.				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)	GGCCACTCGGATCAGCTCCTC	0.498																																																0													155	161	159					1																	11187847		2203	4300	6503	SO:0001583	missense	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.6050T>C	1.37:g.11187847A>G	ENSP00000354558:p.Ile2017Thr		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	CCDS127.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.480085	0.84747	.	.	ENSG00000198793	ENST00000361445;ENST00000376838	T;T	0.12039	2.91;2.72	5.8	5.8	0.92144	FKBP12-rapamycin-associated protein, FKBP12-rapamycin-binding (1);	0.000000	0.85682	D	0.000000	T	0.49541	0.1563	M	0.93854	3.465	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.63368	-0.6653	10	0.87932	D	0	-10.5918	16.1549	0.81657	1.0:0.0:0.0:0.0	.	2017	P42345	MTOR_HUMAN	T	2017;222	ENSP00000354558:I2017T;ENSP00000366034:I222T	ENSP00000354558:I2017T	I	-	2	0	MTOR	11110434	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.923000	0.92808	2.209000	0.71365	0.533000	0.62120	ATC		0.498	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		G	11187847	A	G	11187847	3	3	719	1	0	0	0	0	1	0	0	0	9956	333	12	3	1659	3	MTOR	1	11187847	Missense_Mutation	SNP	A	TCGA-KM-8441-01A-11D-2310-10	7773979	11187847	238062774	2	40294											
FOXJ3	22887	hgsc.bcm.edu	37	1	42693588	42693588	+	Missense_Mutation	SNP	G	G	A			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr1:42693588G>A	ENST00000372572.1	-	7	805	c.494C>T	c.(493-495)aCt>aTt	p.T165I	FOXJ3_ENST00000361776.1_Missense_Mutation_p.T165I|FOXJ3_ENST00000545068.1_Missense_Mutation_p.T165I|FOXJ3_ENST00000372573.1_Missense_Mutation_p.T165I|FOXJ3_ENST00000361346.1_Missense_Mutation_p.T165I	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	165					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(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CTTTGGCCGAGTAGGCAGCAC	0.383																																																0													107	97	100					1																	42693588		2203	4300	6503	SO:0001583	missense	22887			AB028964	CCDS30689.1, CCDS55594.1	1p34.2	2008-04-10			ENSG00000198815	ENSG00000198815		"Forkhead boxes"	29178	protein-coding gene	gene with protein product							Standard	NM_014947		Approved	KIAA1041	uc001chf.3	Q9UPW0	OTTHUMG00000007026	ENST00000372572.1:c.494C>T	1.37:g.42693588G>A	ENSP00000361653:p.Thr165Ile		A7MBL7|A7MD18|D3DPW2|Q9NSS7	Missense_Mutation	SNP	ENST00000372572.1	37	CCDS30689.1	.	.	.	.	.	.	.	.	.	.	G	18.53	3.644135	0.67244	.	.	ENSG00000198815	ENST00000372573;ENST00000372572;ENST00000361346;ENST00000361776;ENST00000545068;ENST00000445886	D;D;D;D;D;D	0.95447	-3.71;-3.71;-3.71;-3.71;-3.71;-3.71	5.68	5.68	0.88126	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (2);	0.121361	0.52532	D	0.000065	D	0.93621	0.7963	L	0.34521	1.04	0.54753	D	0.999985	B;P	0.35363	0.018;0.497	B;B	0.42188	0.053;0.379	D	0.92467	0.5982	10	0.36615	T	0.2	.	17.2843	0.87137	0.0:0.0:1.0:0.0	.	165;165	Q9UPW0-2;Q9UPW0	.;FOXJ3_HUMAN	I	165	ENSP00000361654:T165I;ENSP00000361653:T165I;ENSP00000354620:T165I;ENSP00000354449:T165I;ENSP00000439044:T165I;ENSP00000393408:T165I	ENSP00000354620:T165I	T	-	2	0	FOXJ3	42466175	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.932000	0.70121	2.666000	0.90696	0.655000	0.94253	ACT		0.383	FOXJ3-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000018310.1	NM_014947		A	42693588	G	A	42693588	3	1	719	1	0	0	0	0	1	0	0	0	6015	1029	36	2	1410	2	FOXJ3	1	42693588	Missense_Mutation	SNP	G	TCGA-KM-8441-01A-11D-2310-10	31505741	42693588	206557033	3	40295											
STIL	6491	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	47717422	47717422	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr1:47717422G>A	ENST00000360380.3	-	18	3613	c.3250C>T	c.(3250-3252)Cga>Tga	p.R1084*	STIL_ENST00000371877.3_Nonsense_Mutation_p.R1085*|STIL_ENST00000243182.6_Nonsense_Mutation_p.R1084*|STIL_ENST00000337817.5_Nonsense_Mutation_p.R1084*|STIL_ENST00000396221.2_Nonsense_Mutation_p.R1067*	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	1084					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)				TGGTTCGATCGAGTGACAGAC	0.408																																																0													145	149	147					1																	47717422		2203	4300	6503	SO:0001587	stop_gained	6491			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.3250C>T	1.37:g.47717422G>A	ENSP00000353544:p.Arg1084*		Q5T0C5|Q68CN9	Nonsense_Mutation	SNP	ENST00000360380.3	37	CCDS548.1	.	.	.	.	.	.	.	.	.	.	G	42	9.376454	0.99153	.	.	ENSG00000123473	ENST00000360380;ENST00000337817;ENST00000371877;ENST00000396221;ENST00000243182	.	.	.	5.58	5.58	0.84498	.	0.406128	0.29760	N	0.011275	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.4228	19.5713	0.95421	0.0:0.0:1.0:0.0	.	.	.	.	X	1084;1084;1085;1067;1084	.	ENSP00000243182:R1084X	R	-	1	2	STIL	47490009	0.983000	0.35010	0.999000	0.59377	0.985000	0.73830	4.224000	0.58593	2.623000	0.88846	0.460000	0.39030	CGA		0.408	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021649.2	NM_003035		A	47717422	G	A	47717422	4	1	719	1	0	0	0	0	0	1	0	0	15287	1066	37	1	617	1	STIL	1	47717422	Nonsense_Mutation	SNP	G	TCGA-KM-8441-01A-11D-2310-10	5023834	47717422	201533199	4	40296											
FAM69A	388650	broad.mit.edu	37	1	93341936	93341936	+	Missense_Mutation	SNP	C	C	A			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr1:93341936C>A	ENST00000370310.4	-	2	176	c.106G>T	c.(106-108)Gtt>Ttt	p.V36F		NM_001006605.4|NM_001252269.1|NM_001252271.1	NP_001006606.2|NP_001239198.1|NP_001239200.1	Q5T7M9	FA69A_HUMAN	family with sequence similarity 69, member A	36						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	4		all_lung(203;0.00265)|Lung NSC(277;0.00562)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000563)|all cancers(265;0.000751)|Epithelial(280;0.127)		CCAACAAAAACCACTAACCAG	0.338																																																0													72	69	70					1																	93341936		1841	4095	5936	SO:0001583	missense	388650			AK027146	CCDS44173.1, CCDS72822.1, CCDS72823.1, CCDS72824.1, CCDS72825.1	1p22	2014-06-25			ENSG00000154511	ENSG00000154511			32213	protein-coding gene	gene with protein product		614542				21334309	Standard	NM_001006605		Approved	FLJ23493	uc001dpg.3	Q5T7M9	OTTHUMG00000010894	ENST00000370310.4:c.106G>T	1.37:g.93341936C>A	ENSP00000359333:p.Val36Phe		Q6IRV2	Missense_Mutation	SNP	ENST00000370310.4	37	CCDS44173.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.604035	0.66445	.	.	ENSG00000154511	ENST00000370310;ENST00000401027	T	0.53423	0.62	5.48	5.48	0.80851	.	0.061173	0.64402	D	0.000004	T	0.60534	0.2276	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	0.998;0.998;1.0	D;D;D	0.80764	0.994;0.994;0.989	T	0.62329	-0.6877	10	0.87932	D	0	-14.4428	19.2974	0.94128	0.0:1.0:0.0:0.0	.	29;36;36	B4E174;Q5T7M9;Q5T7M9-2	.;FA69A_HUMAN;.	F	36	ENSP00000359333:V36F	ENSP00000359333:V36F	V	-	1	0	FAM69A	93114524	1.000000	0.71417	0.938000	0.37757	0.492000	0.33523	4.552000	0.60747	2.724000	0.93272	0.655000	0.94253	GTT		0.338	FAM69A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030046.2	NM_001006605		A	93341936	C	A	93341936	3	1	719	1	0	0	0	0	1	0	0	0	5604	507	18	4	1196	4	FAM69A	1	93341936	Missense_Mutation	SNP	C	TCGA-KM-8441-01A-11D-2310-10	45624514	93341936	155908685	5	40297											
ABCD3	5825	ucsc.edu	37	1	94884103	94884103	+	Silent	SNP	C	C	T			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr1:94884103C>T	ENST00000370214.4	+	1	93	c.69C>T	c.(67-69)ctC>ctT	p.L23L	ABCD3_ENST00000536817.1_5'UTR|ABCD3_ENST00000315713.5_Silent_p.L23L|ABCD3_ENST00000454898.2_Silent_p.L23L|ABCD3_ENST00000394233.2_Silent_p.L23L	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	23	Interaction with PEX19.|Targeting to peroxisomes.				ATP catabolic process (GO:0006200)|fatty acid beta-oxidation (GO:0006635)|peroxisome organization (GO:0007031)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		TCCTGCTGCTCTGCCTGCTCC	0.716																																																0													22	19	20					1																	94884103		2201	4291	6492	SO:0001819	synonymous_variant	5825			M81182	CCDS749.1, CCDS44175.1	1p21.3	2012-05-16			ENSG00000117528	ENSG00000117528		"ATP binding cassette transporters / subfamily D"	67	protein-coding gene	gene with protein product		170995		PXMP1		1301993, 8449508	Standard	NM_002858		Approved	PMP70, ZWS2	uc001dqn.4	P28288	OTTHUMG00000010717	ENST00000370214.4:c.69C>T	1.37:g.94884103C>T			D3DT46|Q15271|Q6NUN5|Q96DA3|Q9H529	Silent	SNP	ENST00000370214.4	37	CCDS749.1																																																																																				0.716	ABCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029597.1	NM_002858		T	94884103	C	T	94884103	2	4	719	1	0	0	0	0	0	0	0	1	62	900	32	2		2	ABCD3	1	94884103	Silent	SNP	C	TCGA-KM-8441-01A-11D-2310-10	1542167	94884103	154366518	6	40298											
EPHX1	2052	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	1	226027678	226027678	+	Missense_Mutation	SNP	T	T	C			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr1:226027678T>C	ENST00000366837.4	+	6	1067	c.871T>C	c.(871-873)Tac>Cac	p.Y291H	RP11-285F7.2_ENST00000424332.1_RNA|EPHX1_ENST00000272167.5_Missense_Mutation_p.Y291H	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	291					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)			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)					GAAGGTATTCTACAGCCTGAT	0.602																																																0													143	124	130					1																	226027678		2203	4300	6503	SO:0001583	missense	2052			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.871T>C	1.37:g.226027678T>C	ENSP00000355802:p.Tyr291His		B2R8N0|Q5VTJ6|Q9NP75|Q9NPE7|Q9NQU6|Q9NQU7|Q9NQU8|Q9NQU9|Q9NQV0|Q9NQV1|Q9NQV2	Missense_Mutation	SNP	ENST00000366837.4	37	CCDS1547.1	.	.	.	.	.	.	.	.	.	.	T	10.73	1.432369	0.25813	.	.	ENSG00000143819	ENST00000272167;ENST00000366837	T;T	0.61510	0.1;0.1	5.57	3.13	0.36017	Alpha/beta hydrolase fold-1 (1);	0.477487	0.24198	N	0.040659	T	0.38268	0.1034	L	0.31420	0.93	0.09310	N	1	B	0.11235	0.004	B	0.21151	0.033	T	0.08659	-1.0711	10	0.17369	T	0.5	-21.0142	5.624	0.17473	0.2271:0.1197:0.0:0.6532	.	291	P07099	HYEP_HUMAN	H	291	ENSP00000272167:Y291H;ENSP00000355802:Y291H	ENSP00000272167:Y291H	Y	+	1	0	EPHX1	224094301	0.062000	0.20869	0.864000	0.33941	0.491000	0.33493	-0.281000	0.08456	2.126000	0.65437	0.482000	0.46254	TAC		0.602	EPHX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092064.1	NM_000120		C	226027678	T	C	226027678	3	2	719	1	0	0	0	0	1	0	0	0	5181	1522	53	3	889	3	EPHX1	1	226027678	Missense_Mutation	SNP	T	TCGA-KM-8441-01A-11D-2310-10	131143575	226027678	23222943	7	40299											
VPS54	51542	mdanderson.org	37	2	64124722	64124722	+	Missense_Mutation	SNP	C	C	A	rs11558741	byFrequency	TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr2:64124722C>A	ENST00000272322.4	-	22	2890	c.2736G>T	c.(2734-2736)atG>atT	p.M912I	VPS54_ENST00000409558.4_Missense_Mutation_p.M900I|VPS54_ENST00000354504.3_Missense_Mutation_p.M759I			Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	912			M -> I (in dbSNP:rs11558741).		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)				endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						TTAAAAATAACATCTGAAAAA	0.254													C|||	691	0.137979	0.1611	0.1441	5008	,	,		16567	0.0813		0.164	False		,,,				2504	0.1339															0								C	ILE/MET,ILE/MET	600,3794		38,524,1635	53	55	54		2700,2736	4.7	1	2	dbSNP_120	54	1292,7294		118,1056,3119	yes	missense,missense	VPS54	NM_001005739.1,NM_016516.2	10,10	156,1580,4754	AA,AC,CC		15.0478,13.655,14.5763	benign,benign	900/966,912/978	64124722	1892,11088	2197	4293	6490	SO:0001583	missense	51542			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.2736G>T	2.37:g.64124722C>A	ENSP00000272322:p.Met912Ile		Q5VIR5|Q86YF7|Q8N6G3|Q9NPV0|Q9NT07|Q9NUJ0	Missense_Mutation	SNP	ENST00000272322.4	37	CCDS33208.1	328	0.15018315018315018	96	0.1951219512195122	45	0.12430939226519337	54	0.0944055944055944	133	0.17546174142480211	C	13.89	2.373226	0.42105	0.13655	0.150478	ENSG00000143952	ENST00000354504;ENST00000272322;ENST00000409558;ENST00000483277;ENST00000394400	T;T;T	0.33438	1.41;1.42;1.42	5.58	4.69	0.59074	.	0.038119	0.85682	D	0.000000	T	0.00039	0.0001	L	0.47716	1.5	0.21652	P	0.999607941	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.08055	0.001;0.0;0.003	T	0.10753	-1.0616	9	0.21540	T	0.41	.	9.7045	0.40207	0.1378:0.7903:0.0:0.072	rs11558741;rs17619976;rs60970434;rs17619976	759;912;900	Q9P1Q0-3;Q9P1Q0;Q9P1Q0-4	.;VPS54_HUMAN;.	I	759;912;900;900;912	ENSP00000346499:M759I;ENSP00000272322:M912I;ENSP00000386980:M900I	ENSP00000272322:M912I	M	-	3	0	VPS54	63978226	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.329000	0.52060	2.611000	0.88343	0.543000	0.68304	ATG		0.254	VPS54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327062.2	NM_016516		A	64124722	C	A	64124722	3	1	719	1	0	0	0	0	1	0	0	0	17221	478	17	4	205	4	VPS54	2	64124722	Missense_Mutation	SNP	C	TCGA-KM-8441-01A-11D-2310-10		64124722	179074651	8	40300											
NCK2	8440	ucsc.edu	37	2	106509538	106509538	+	Missense_Mutation	SNP	A	A	G			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr2:106509538A>G	ENST00000233154.4	+	5	1491	c.1049A>G	c.(1048-1050)cAc>cGc	p.H350R	NCK2_ENST00000451463.2_3'UTR|NCK2_ENST00000393349.2_Missense_Mutation_p.H350R|NCK2_ENST00000522586.1_3'UTR	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	350	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|lamellipodium assembly (GO:0030032)|negative regulation of cell proliferation (GO:0008285)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of translation (GO:0006417)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|vesicle membrane (GO:0012506)	cytoskeletal adaptor activity (GO:0008093)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|lung(3)|ovary(1)	5						CGGCGCTTCCACACCATGGAC	0.587																																																0													76	68	71					2																	106509538		2203	4300	6503	SO:0001583	missense	8440			AF043119	CCDS33266.1	2q12	2013-02-14			ENSG00000071051	ENSG00000071051		"SH2 domain containing"	7665	protein-coding gene	gene with protein product		604930				9737977, 16752908	Standard	NM_001004720		Approved	NCKbeta	uc002tdi.3	O43639	OTTHUMG00000153116	ENST00000233154.4:c.1049A>G	2.37:g.106509538A>G	ENSP00000233154:p.His350Arg		D3DVK1|Q9BWN9|Q9UIC3	Missense_Mutation	SNP	ENST00000233154.4	37	CCDS33266.1	.	.	.	.	.	.	.	.	.	.	A	10.17	1.276996	0.23307	.	.	ENSG00000071051	ENST00000233154;ENST00000393349	T;T	0.62364	0.03;0.03	5.3	4.15	0.48705	SH2 motif (5);	0.303418	0.38663	N	0.001610	T	0.40423	0.1116	N	0.12887	0.27	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.13522	-1.0506	10	0.17832	T	0.49	.	10.7944	0.46451	0.9258:0.0:0.0742:0.0	.	350	O43639	NCK2_HUMAN	R	350	ENSP00000233154:H350R;ENSP00000377018:H350R	ENSP00000233154:H350R	H	+	2	0	NCK2	105875970	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.954000	0.49113	0.875000	0.35847	0.459000	0.35465	CAC		0.587	NCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329634.1	NM_003581		G	106509538	A	G	106509538	3	3	719	1	0	0	0	0	1	0	0	0	10222	159	6	3	1059	3	NCK2	2	106509538	Missense_Mutation	SNP	A	TCGA-KM-8441-01A-11D-2310-10	42384816	106509538	136689835	9	40301											
TANC1	85461	ucsc.edu	37	2	160031482	160031482	+	Missense_Mutation	SNP	T	T	C			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr2:160031482T>C	ENST00000263635.6	+	12	1759	c.1522T>C	c.(1522-1524)Tgc>Cgc	p.C508R	TANC1_ENST00000454300.1_Missense_Mutation_p.C402R	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	508					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						CTACCACTACTGCCAGGCTGA	0.572																																																0													290	292	291					2																	160031482		2149	4251	6400	SO:0001583	missense	85461			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.1522T>C	2.37:g.160031482T>C	ENSP00000263635:p.Cys508Arg		C9JD88|Q49AI8	Missense_Mutation	SNP	ENST00000263635.6	37	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.492544	0.84962	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	D;D	0.82984	-1.59;-1.67	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.91908	0.7438	M	0.84585	2.705	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.996;0.998;0.999	D	0.93127	0.6530	10	0.87932	D	0	.	15.9958	0.80243	0.0:0.0:0.0:1.0	.	500;402;508	B9EK39;Q9C0D5-2;Q9C0D5	.;.;TANC1_HUMAN	R	402;508	ENSP00000396339:C402R;ENSP00000263635:C508R	ENSP00000263635:C508R	C	+	1	0	TANC1	159739728	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.040000	0.89188	2.188000	0.69820	0.533000	0.62120	TGC		0.572	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			C	160031482	T	C	160031482	3	2	719	1	0	0	0	0	1	0	0	0	15549	1580	55	3	1560	3	TANC1	2	160031482	Missense_Mutation	SNP	T	TCGA-KM-8441-01A-11D-2310-10	53521944	160031482	83167891	10	40302											
FASTKD1	79675	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	2	170428445	170428445	+	Missense_Mutation	SNP	C	C	T	rs376071696		TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr2:170428445C>T	ENST00000453153.2	-	2	441	c.95G>A	c.(94-96)cGa>cAa	p.R32Q	FASTKD1_ENST00000453929.2_Missense_Mutation_p.R32Q	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	32					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)	p.R32Q(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						ACTGATGGGTCGAAATTGAAA	0.343																																																1	Substitution - Missense(1)	large_intestine(1)											73	70	71					2																	170428445		2203	4300	6503	SO:0001583	missense	79675			AL832058	CCDS33318.1, CCDS63051.1	2q31.1	2008-02-05			ENSG00000138399	ENSG00000138399			26150	protein-coding gene	gene with protein product						11347906	Standard	NM_024622		Approved	FLJ21901	uc002uev.4	Q53R41	OTTHUMG00000154953	ENST00000453153.2:c.95G>A	2.37:g.170428445C>T	ENSP00000400513:p.Arg32Gln		Q8N583|Q8TEA9|Q96JM5|Q96N71|Q9H6T4	Missense_Mutation	SNP	ENST00000453153.2	37	CCDS33318.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.291846	0.40594	.	.	ENSG00000138399	ENST00000453153;ENST00000453929;ENST00000438035;ENST00000445210	T;T	0.20200	2.09;2.09	5.07	4.19	0.49359	.	0.372834	0.27981	N	0.017078	T	0.21550	0.0519	M	0.64997	1.995	0.39070	D	0.960702	P;D;P	0.53885	0.938;0.963;0.883	B;B;B	0.38500	0.142;0.275;0.082	T	0.12319	-1.0552	10	0.38643	T	0.18	-26.2444	13.6022	0.62026	0.0:0.9246:0.0:0.0754	.	32;32;32	D3DPC4;Q53R41-2;Q53R41	.;.;FAKD1_HUMAN	Q	32	ENSP00000400513:R32Q;ENSP00000403229:R32Q	ENSP00000396769:R32Q	R	-	2	0	FASTKD1	170136691	1.000000	0.71417	0.840000	0.33206	0.441000	0.31987	2.348000	0.44045	1.257000	0.44085	0.591000	0.81541	CGA		0.343	FASTKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337788.2	NM_024622		T	170428445	C	T	170428445	3	4	719	1	0	0	0	0	1	0	0	0	5687	884	31	1	2504	1	FASTKD1	2	170428445	Missense_Mutation	SNP	C	TCGA-KM-8441-01A-11D-2310-10	10396963	170428445	72770928	11	40303											
MTMR14	64419	bcgsc.ca	37	3	9712769	9712769	+	Missense_Mutation	SNP	T	T	C			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr3:9712769T>C	ENST00000296003.4	+	6	714	c.592T>C	c.(592-594)Tat>Cat	p.Y198H	MTMR14_ENST00000351233.5_Missense_Mutation_p.Y198H|MTMR14_ENST00000353332.5_Missense_Mutation_p.Y198H|MTMR14_ENST00000420925.1_Intron	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	198					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)					GGTCAGAGGCTATGACATCAA	0.473																																																0													142	135	137					3																	9712769		1999	4179	6178	SO:0001583	missense	64419			BC001674	CCDS43043.1, CCDS43044.1, CCDS43045.1	3p26	2011-06-09	2006-12-18	2006-12-18	ENSG00000163719	ENSG00000163719		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	26190	protein-coding gene	gene with protein product	"egg-derived tyrosine phosphatase homolog (Drosophila)"	611089	"chromosome 3 open reading frame 29"	C3orf29		15186772	Standard	NM_022485		Approved	FLJ22405, FLJ90311, hJumpy, hEDTP	uc003brz.3	Q8NCE2	OTTHUMG00000155111	ENST00000296003.4:c.592T>C	3.37:g.9712769T>C	ENSP00000296003:p.Tyr198His		Q0JTH5|Q0JU83|Q6PIZ4|Q6QE21|Q86VK9|Q8IYK1|Q8TCM7|Q9H6C0	Missense_Mutation	SNP	ENST00000296003.4	37	CCDS43043.1	.	.	.	.	.	.	.	.	.	.	T	11.23	1.577865	0.28180	.	.	ENSG00000163719	ENST00000353332;ENST00000296003;ENST00000351233;ENST00000419048	D;D;D	0.89939	-2.59;-2.59;-2.59	5.91	4.87	0.63330	.	0.270310	0.42420	N	0.000717	T	0.64260	0.2582	N	0.00801	-1.175	0.35982	D	0.836093	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.58825	-0.7568	10	0.18276	T	0.48	-12.3384	3.5246	0.07755	0.0:0.5382:0.0:0.4617	.	198;198;198	Q8NCE2-3;Q8NCE2-2;Q8NCE2	.;.;MTMRE_HUMAN	H	198	ENSP00000323462:Y198H;ENSP00000296003:Y198H;ENSP00000334070:Y198H	ENSP00000296003:Y198H	Y	+	1	0	MTMR14	9687769	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	2.061000	0.41403	1.112000	0.41740	0.533000	0.62120	TAT		0.473	MTMR14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338435.1	NM_022485		C	9712769	T	C	9712769	3	2	719	1	0	0	0	0	1	0	0	0	9944	1522	53	3	614	3	MTMR14	3	9712769	Missense_Mutation	SNP	T	TCGA-KM-8441-01A-11D-2310-10		9712769	188309661	12	40304											
DNAH1	25981	broad.mit.edu	37	3	52416340	52416340	+	Missense_Mutation	SNP	G	G	A			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr3:52416340G>A	ENST00000420323.2	+	50	8071	c.7810G>A	c.(7810-7812)Gag>Aag	p.E2604K		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2604	AAA 4. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTCCAGGGCCGAGTACGAGTG	0.567																																																0													126	130	128					3																	52416340		2132	4259	6391	SO:0001583	missense	25981			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.7810G>A	3.37:g.52416340G>A	ENSP00000401514:p.Glu2604Lys		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.968473	0.74131	.	.	ENSG00000114841	ENST00000420323	T	0.39229	1.09	4.49	4.49	0.54785	.	0.000000	0.51477	D	0.000088	T	0.57636	0.2067	M	0.76838	2.35	0.47905	D	0.999541	D	0.63880	0.993	P	0.58620	0.842	T	0.56529	-0.7964	10	0.25751	T	0.34	.	13.1715	0.59602	0.0:0.1602:0.8398:0.0	.	2604	C9JXH6	.	K	2604	ENSP00000401514:E2604K	ENSP00000401514:E2604K	E	+	1	0	DNAH1	52391380	1.000000	0.71417	0.953000	0.39169	0.827000	0.46813	4.931000	0.63469	2.322000	0.78497	0.462000	0.41574	GAG		0.567	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		A	52416340	G	A	52416340	3	1	719	1	0	0	0	0	1	0	0	0	4599	1059	37	1	8004	1	DNAH1	3	52416340	Missense_Mutation	SNP	G	TCGA-KM-8441-01A-11D-2310-10	42703571	52416340	145606090	13	40305											
HRG	3273	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	3	186395001	186395001	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr3:186395001G>T	ENST00000232003.4	+	7	987	c.907G>T	c.(907-909)Gaa>Taa	p.E303*		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	303	Pro-rich.				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)		TCCTCCAGATGAAAGAGATCA	0.527																																																0													209	170	184					3																	186395001		2203	4300	6503	SO:0001587	stop_gained	3273				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.907G>T	3.37:g.186395001G>T	ENSP00000232003:p.Glu303*		B9EK35|D3DNU7	Nonsense_Mutation	SNP	ENST00000232003.4	37	CCDS3280.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.021615	0.54576	.	.	ENSG00000113905	ENST00000232003	.	.	.	3.76	1.92	0.25849	.	1.401000	0.04631	N	0.403727	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	2.1006	5.4632	0.16627	0.1138:0.203:0.6831:0.0	.	.	.	.	X	303	.	ENSP00000232003:E303X	E	+	1	0	HRG	187877695	0.007000	0.16637	0.004000	0.12327	0.001000	0.01503	1.745000	0.38278	0.401000	0.25424	-0.226000	0.12346	GAA		0.527	HRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344655.1	NM_000412		T	186395001	G	T	186395001	4	4	719	1	0	0	0	0	0	1	0	0	7356	1291	45	4	933	4	HRG	3	186395001	Nonsense_Mutation	SNP	G	TCGA-KM-8441-01A-11D-2310-10	133978661	186395001	11627429	14	40306											
PDE6B	5158	ucsc.edu	37	4	656004	656004	+	Missense_Mutation	SNP	G	G	T			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr4:656004G>T	ENST00000496514.1	+	13	1717	c.1696G>T	c.(1696-1698)Gcc>Tcc	p.A566S	PDE6B_ENST00000255622.6_Missense_Mutation_p.A566S|RP11-1191J2.5_ENST00000609172.1_RNA|PDE6B_ENST00000429163.2_Missense_Mutation_p.A287S			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	566					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)	CTTCAACGTGGCCCAGACGAT	0.617																																					GBM(71;463 1194 9848 25922 46834)											0													47	36	40					4																	656004		2193	4293	6486	SO:0001583	missense	5158			BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"Phosphodiesterases"	8786	protein-coding gene	gene with protein product	"congenital stationary night blindness 3, autosomal dominant"	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.1696G>T	4.37:g.656004G>T	ENSP00000420295:p.Ala566Ser		B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Missense_Mutation	SNP	ENST00000496514.1	37	CCDS33932.1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.539461	0.65085	.	.	ENSG00000133256	ENST00000255622;ENST00000496514;ENST00000429163	T;T;T	0.77750	-1.12;-1.12;-1.12	4.41	4.41	0.53225	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.060860	0.64402	D	0.000004	T	0.69878	0.3160	L	0.28556	0.865	0.51012	D	0.999906	B;B	0.22983	0.078;0.063	B;B	0.29267	0.1;0.089	T	0.70396	-0.4883	10	0.66056	D	0.02	.	14.5094	0.67774	0.0:0.0:1.0:0.0	.	566;566	P35913;P35913-2	PDE6B_HUMAN;.	S	566;566;287	ENSP00000255622:A566S;ENSP00000420295:A566S;ENSP00000406334:A287S	ENSP00000255622:A566S	A	+	1	0	PDE6B	646004	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.246000	0.95438	2.001000	0.58596	0.558000	0.71614	GCC		0.617	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358109.1	NM_000283		T	656004	G	T	656004	3	4	719	1	0	0	0	0	1	0	0	0	11648	1203	42	4	1746	4	PDE6B	4	656004	Missense_Mutation	SNP	G	TCGA-KM-8441-01A-11D-2310-10		656004	190498272	15	40307											
RASL11B	65997	hgsc.bcm.edu	37	4	53728693	53728694	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	AT	AT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr4:53728693_53728694delAT	ENST00000248706.3	+	1	237_238	c.19_20delAT	c.(19-21)atgfs	p.M7fs		NM_023940.2	NP_076429.1			RAS-like, family 11, member B											autonomic_ganglia(1)|central_nervous_system(1)|lung(5)|ovary(1)|stomach(1)	9			LUSC - Lung squamous cell carcinoma(32;0.0302)			CATTCAGAACATGTGCACCATC	0.733																																																0																																										SO:0001589	frameshift_variant	65997			BK001672	CCDS3490.1	4q12	2014-05-09			ENSG00000128045	ENSG00000128045			23804	protein-coding gene	gene with protein product		612404					Standard	NM_023940		Approved		uc003gzt.3	Q9BPW5	OTTHUMG00000102097	ENST00000248706.3:c.19_20delAT	4.37:g.53728693_53728694delAT	ENSP00000248706:p.Met7fs			Frame_Shift_Del	DEL	ENST00000248706.3	37	CCDS3490.1																																																																																				0.733	RASL11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219931.2	NM_023940		-	53728694	AT	-	53728693	7	5	719	1	0	1	0	1	0	0	0	0	13088	217	8	0	21	0	RASL11B	4	53728693	Frame_Shift_Del	DEL	AT	TCGA-KM-8441-01A-11D-2310-10	53072689	53728693	137425583	16	40308											
UGT2B7	7364	broad.mit.edu	37	4	69962648	69962648	+	Missense_Mutation	SNP	T	T	C	rs368476298		TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr4:69962648T>C	ENST00000508661.1	+	1	437	c.410T>C	c.(409-411)aTg>aCg	p.M137T	UGT2B7_ENST00000305231.7_Missense_Mutation_p.M137T|UGT2B7_ENST00000509763.1_Intron			P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	137					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)	AAGAAATTTATGAAAAAAGTA	0.323																																																0								T	THR/MET	0,4400		0,0,2200	70	71	70		410	2.5	0	4		70	1,8593	1.2+/-3.3	0,1,4296	no	missense	UGT2B7	NM_001074.2	81	0,1,6496	CC,CT,TT		0.0116,0.0,0.0077	possibly-damaging	137/530	69962648	1,12993	2200	4297	6497	SO:0001583	missense	7364			BC030974	CCDS3526.1	4q13	2008-02-05	2005-07-20		ENSG00000171234	ENSG00000171234		"UDP glucuronosyltransferases"	12554	protein-coding gene	gene with protein product		600068	"UDP glycosyltransferase 2 family, polypeptide B7"			2159463, 7835904	Standard	NM_001074		Approved	UGT2B9	uc003heg.4	P16662	OTTHUMG00000129404	ENST00000508661.1:c.410T>C	4.37:g.69962648T>C	ENSP00000427659:p.Met137Thr		B2R810|Q6GTW0	Missense_Mutation	SNP	ENST00000508661.1	37		.	.	.	.	.	.	.	.	.	.	T	9.836	1.189712	0.21954	0.0	1.16E-4	ENSG00000171234	ENST00000305231;ENST00000508661	T;T	0.61510	0.1;0.1	2.54	2.54	0.30619	.	0.286793	0.30338	U	0.009850	T	0.64046	0.2563	M	0.90814	3.15	0.27669	N	0.946838	B;P	0.35192	0.087;0.489	B;B	0.39935	0.168;0.314	T	0.62144	-0.6916	9	.	.	.	.	8.5583	0.33494	0.0:0.0:0.0:1.0	.	137;137	E9PBP8;P16662	.;UD2B7_HUMAN	T	137	ENSP00000304811:M137T;ENSP00000427659:M137T	.	M	+	2	0	UGT2B7	69997237	0.436000	0.25586	0.007000	0.13788	0.014000	0.08584	3.768000	0.55295	1.157000	0.42530	0.260000	0.18958	ATG		0.323	UGT2B7-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000362103.1	NM_001074		C	69962648	T	C	69962648	3	2	719	1	0	0	0	0	1	0	0	0	16967	1464	51	3	412	3	UGT2B7	4	69962648	Missense_Mutation	SNP	T	TCGA-KM-8441-01A-11D-2310-10	16233955	69962648	121191628	17	40309											
PLK4	10733	broad.mit.edu;bcgsc.ca	37	4	128814529	128814529	+	Missense_Mutation	SNP	A	A	C			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr4:128814529A>C	ENST00000270861.5	+	11	2552	c.2278A>C	c.(2278-2280)Agc>Cgc	p.S760R	PLK4_ENST00000507249.1_Missense_Mutation_p.S699R|PLK4_ENST00000514379.1_Missense_Mutation_p.S719R|PLK4_ENST00000513090.1_Missense_Mutation_p.S728R|PLK4_ENST00000515069.1_Missense_Mutation_p.S682R|RNU6-583P_ENST00000516012.1_RNA	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	760					centriole replication (GO:0007099)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of centriole replication (GO:0046601)|protein phosphorylation (GO:0006468)|trophoblast giant cell differentiation (GO:0060707)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						TGAAGTTAATAGCTTGAAAGA	0.299																																					Colon(135;508 1718 19061 31832 42879)											0													81	85	84					4																	128814529		2202	4299	6501	SO:0001583	missense	10733			Y13115	CCDS3735.1, CCDS54803.1, CCDS54804.1	4q27-q28	2013-01-18	2010-06-24	2004-01-28	ENSG00000142731	ENSG00000142731			11397	protein-coding gene	gene with protein product		605031	"serine/threonine kinase 18", "polo-like kinase 4 (Drosophila)"	STK18			Standard	NM_014264		Approved	Sak	uc003ifo.3	O00444	OTTHUMG00000133301	ENST00000270861.5:c.2278A>C	4.37:g.128814529A>C	ENSP00000270861:p.Ser760Arg		B2RAL0|B7Z837|B7Z8G7|Q8IYF0|Q96Q95|Q9UD84|Q9UDE2	Missense_Mutation	SNP	ENST00000270861.5	37	CCDS3735.1	.	.	.	.	.	.	.	.	.	.	A	17.46	3.395123	0.62066	.	.	ENSG00000142731	ENST00000270861;ENST00000515069;ENST00000513090;ENST00000507249;ENST00000514379	T;T;T;T;T	0.69306	-0.24;-0.24;-0.39;-0.24;-0.31	5.08	3.86	0.44501	.	0.293682	0.43260	D	0.000594	T	0.57403	0.2051	L	0.47716	1.5	0.27142	N	0.961622	P;P	0.48089	0.905;0.684	P;B	0.44518	0.452;0.265	T	0.57177	-0.7856	10	0.66056	D	0.02	-0.3977	4.2527	0.10702	0.7068:0.0:0.1166:0.1766	.	728;760	O00444-2;O00444	.;PLK4_HUMAN	R	760;682;728;699;719	ENSP00000270861:S760R;ENSP00000421774:S682R;ENSP00000427554:S728R;ENSP00000423412:S699R;ENSP00000423582:S719R	ENSP00000270861:S760R	S	+	1	0	PLK4	129033979	1.000000	0.71417	0.654000	0.29608	0.874000	0.50279	3.069000	0.50026	0.905000	0.36596	0.533000	0.62120	AGC		0.299	PLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257095.3			C	128814529	A	C	128814529	3	2	719	1	0	0	0	0	1	0	0	0	12100	420	15	5	2320	5	PLK4	4	128814529	Missense_Mutation	SNP	A	TCGA-KM-8441-01A-11D-2310-10	58851881	128814529	62339747	18	40310											
ENPP6	133121	bcgsc.ca	37	4	185138788	185138788	+	Missense_Mutation	SNP	T	T	A			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr4:185138788T>A	ENST00000296741.2	-	1	326	c.185A>T	c.(184-186)tAc>tTc	p.Y62F		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	62					choline metabolic process (GO:0019695)|lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	glycerophosphocholine cholinephosphodiesterase activity (GO:0047390)|glycerophosphodiester phosphodiesterase activity (GO:0008889)|phosphoric diester hydrolase activity (GO:0008081)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-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;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		TGGAGTCAAGTAATCCACTTT	0.493																																																0													86	80	82					4																	185138788		2203	4300	6503	SO:0001583	missense	133121			AK057370	CCDS3834.1	4q35.1	2008-02-05			ENSG00000164303	ENSG00000164303			23409	protein-coding gene	gene with protein product							Standard	NM_153343		Approved	MGC33971	uc003iwc.3	Q6UWR7	OTTHUMG00000160617	ENST00000296741.2:c.185A>T	4.37:g.185138788T>A	ENSP00000296741:p.Tyr62Phe		Q4W5Q1|Q96M57	Missense_Mutation	SNP	ENST00000296741.2	37	CCDS3834.1	.	.	.	.	.	.	.	.	.	.	T	16.90	3.248979	0.59103	.	.	ENSG00000164303	ENST00000296741	T	0.73789	-0.78	5.28	5.28	0.74379	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	T	0.77003	0.4067	L	0.60845	1.875	0.80722	D	1	P	0.46706	0.883	P	0.49887	0.625	T	0.74671	-0.3587	10	0.26408	T	0.33	-28.6202	15.3844	0.74684	0.0:0.0:0.0:1.0	.	62	Q6UWR7	ENPP6_HUMAN	F	62	ENSP00000296741:Y62F	ENSP00000296741:Y62F	Y	-	2	0	ENPP6	185375782	1.000000	0.71417	0.962000	0.40283	0.152000	0.21847	7.412000	0.80091	2.210000	0.71456	0.533000	0.62120	TAC		0.493	ENPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361428.1	NM_153343		A	185138788	T	A	185138788	3	1	719	1	0	0	0	0	1	0	0	0	5136	1638	57	5	1169	5	ENPP6	4	185138788	Missense_Mutation	SNP	T	TCGA-KM-8441-01A-11D-2310-10	56324259	185138788	6015488	19	40311											
ISOC1	51015	ucsc.edu;mdanderson.org	37	5	128430757	128430757	+	Silent	SNP	T	T	C	rs1127827	byFrequency	TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr5:128430757T>C	ENST00000173527.5	+	1	314	c.298T>C	c.(298-300)Ttg>Ctg	p.L100L	MIR4633_ENST00000584064.1_RNA	NM_016048.2	NP_057132.2	Q96CN7	ISOC1_HUMAN	isochorismatase domain containing 1	100						extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	catalytic activity (GO:0003824)			kidney(2)|lung(7)	9		all_cancers(142;0.0813)|Prostate(80;0.0865)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164)		CCTCGTGCCGTTGCAGATCCA	0.692													C|||	4039	0.80651	0.9682	0.7464	5008	,	,		11507	0.8661		0.6004	False		,,,				2504	0.7812															0								C		3754,388		1706,342,23	17	21	20		298	3.4	1	5	dbSNP_86	20	5111,3281		1551,2009,636	no	coding-synonymous	ISOC1	NM_016048.2		3257,2351,659	CC,CT,TT		39.0968,9.3675,29.2724		100/299	128430757	8865,3669	2071	4196	6267	SO:0001819	synonymous_variant	51015			AF151869	CCDS43357.1	5q22.1-q33.3	2010-03-19			ENSG00000066583	ENSG00000066583			24254	protein-coding gene	gene with protein product						10810093, 18566572	Standard	NM_016048		Approved	CGI-111	uc003kva.3	Q96CN7	OTTHUMG00000163144	ENST00000173527.5:c.298T>C	5.37:g.128430757T>C			Q7Z770	Silent	SNP	ENST00000173527.5	37	CCDS43357.1																																																																																				0.692	ISOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371826.1	NM_016048		C	128430757	T	C	128430757	2	2	719	1	0	0	0	0	0	0	0	1	7864	1722	60	3		3	ISOC1	5	128430757	Silent	SNP	T	TCGA-KM-8441-01A-11D-2310-10		128430757	52484503	20	40312											
MRPS10	55173	broad.mit.edu	37	6	42179589	42179589	+	Missense_Mutation	SNP	T	T	C			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr6:42179589T>C	ENST00000053468.3	-	4	268	c.253A>G	c.(253-255)Aag>Gag	p.K85E		NM_018141.3	NP_060611.2	P82664	RT10_HUMAN	mitochondrial ribosomal protein S10	85						mitochondrion (GO:0005739)|ribosome (GO:0005840)				endometrium(1)|lung(1)	2	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00528)			AATACAGCCTTATCGTGACCT	0.388																																																0													115	112	113					6																	42179589		2203	4300	6503	SO:0001583	missense	55173				CCDS4866.1	6p21.1	2012-09-13			ENSG00000048544	ENSG00000048544		"Mitochondrial ribosomal proteins / small subunits"	14502	protein-coding gene	gene with protein product		611976				11279123	Standard	NM_018141		Approved	FLJ10567	uc003osa.4	P82664	OTTHUMG00000014694	ENST00000053468.3:c.253A>G	6.37:g.42179589T>C	ENSP00000053468:p.Lys85Glu		B2RE89|Q9H3E5|Q9NVR3	Missense_Mutation	SNP	ENST00000053468.3	37	CCDS4866.1	.	.	.	.	.	.	.	.	.	.	T	16.43	3.120923	0.56613	.	.	ENSG00000048544	ENST00000053468	.	.	.	5.78	4.58	0.56647	.	0.182436	0.64402	D	0.000017	T	0.42426	0.1202	L	0.43152	1.355	0.38608	D	0.950836	D	0.56746	0.977	P	0.54544	0.755	T	0.35176	-0.9799	9	0.33940	T	0.23	-11.204	11.2704	0.49136	0.1371:0.0:0.0:0.8629	.	85	P82664	RT10_HUMAN	E	85	.	ENSP00000053468:K85E	K	-	1	0	MRPS10	42287567	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	7.294000	0.78760	0.963000	0.38082	0.533000	0.62120	AAG		0.388	MRPS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040547.1			C	42179589	T	C	42179589	3	2	719	1	0	0	0	0	1	0	0	0	9823	1763	61	3	368	3	MRPS10	6	42179589	Missense_Mutation	SNP	T	TCGA-KM-8441-01A-11D-2310-10		42179589	128935478	21	40313											
PRDM13	59336	bcgsc.ca	37	6	100057081	100057081	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr6:100057081C>T	ENST00000369215.4	+	3	600	c.295C>T	c.(295-297)Cga>Tga	p.R99*		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	99	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				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)		CCGAGCATTGCGAGACGTCCA	0.507																																																0													56	61	59					6																	100057081		2089	4228	6317	SO:0001587	stop_gained	59336			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.295C>T	6.37:g.100057081C>T	ENSP00000358217:p.Arg99*		Q5TGC1|Q5TGC2	Nonsense_Mutation	SNP	ENST00000369215.4	37	CCDS43487.1	.	.	.	.	.	.	.	.	.	.	C	38	7.278789	0.98182	.	.	ENSG00000112238	ENST00000369215;ENST00000369214	.	.	.	5.51	1.15	0.20763	.	0.000000	0.32372	N	0.006183	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.1248	14.7894	0.69827	0.597:0.403:0.0:0.0	.	.	.	.	X	99;109	.	ENSP00000358216:R109X	R	+	1	2	PRDM13	100163802	0.998000	0.40836	0.638000	0.29380	0.992000	0.81027	1.143000	0.31553	0.655000	0.30866	0.456000	0.33151	CGA		0.507	PRDM13-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041619.2			T	100057081	C	T	100057081	4	4	719	1	0	0	0	0	0	1	0	0	12459	760	27	1	305	1	PRDM13	6	100057081	Nonsense_Mutation	SNP	C	TCGA-KM-8441-01A-11D-2310-10	57877492	100057081	71057986	22	40314											
MEST	4232	broad.mit.edu;mdanderson.org;bcgsc.ca	37	7	130140638	130140638	+	Missense_Mutation	SNP	C	C	T			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr7:130140638C>T	ENST00000223215.4	+	9	877	c.656C>T	c.(655-657)cCa>cTa	p.P219L	MEST_ENST00000416162.2_Intron|MEST_ENST00000462132.1_3'UTR|MEST_ENST00000437945.1_Missense_Mutation_p.P219L|MEST_ENST00000341441.5_Missense_Mutation_p.P210L|MEST_ENST00000378576.4_Intron|hsa-mir-335_ENST00000604666.1_RNA|MEST_ENST00000393187.1_Missense_Mutation_p.P210L	NM_001253900.1|NM_002402.3	NP_001240829.1|NP_002393.2	Q5EB52	MEST_HUMAN	mesoderm specific transcript	219					mesoderm development (GO:0007498)|regulation of lipid storage (GO:0010883)|response to retinoic acid (GO:0032526)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2)	12	Melanoma(18;0.0435)					AGTCTCACCCCAGTCTTTGGG	0.517																																					Colon(126;2182 2305 6517 35181)											0													62	55	57					7																	130140638		2203	4300	6503	SO:0001583	missense	4232				CCDS5822.1, CCDS5823.1, CCDS59081.1	7q32	2014-08-22	2012-12-07		ENSG00000106484	ENSG00000106484			7028	protein-coding gene	gene with protein product	"Paternally-expressed gene 1"	601029	"mesoderm specific transcript (mouse) homolog", "mesoderm specific transcript homolog (mouse)"			8884280	Standard	NM_002402		Approved	PEG1	uc003vqg.3	Q5EB52	OTTHUMG00000156661	ENST00000223215.4:c.656C>T	7.37:g.130140638C>T	ENSP00000223215:p.Pro219Leu		B2R6S1|O14973|O15007|Q6AI49|Q92571	Missense_Mutation	SNP	ENST00000223215.4	37	CCDS5822.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.536649	0.45176	.	.	ENSG00000106484	ENST00000341441;ENST00000393187;ENST00000223215;ENST00000437945	T;T;T;T	0.03801	3.8;3.8;3.8;3.8	5.95	3.9	0.45041	.	0.000000	0.52532	D	0.000067	T	0.04182	0.0116	L	0.39898	1.24	0.37717	D	0.924792	B;B;B	0.30146	0.021;0.27;0.042	B;B;B	0.24541	0.011;0.054;0.026	T	0.40079	-0.9582	10	0.30854	T	0.27	-8.4069	8.3751	0.32438	0.1582:0.755:0.0:0.0867	.	205;219;219	B4DQW6;C9JW74;Q5EB52	.;.;MEST_HUMAN	L	210;210;219;219	ENSP00000342749:P210L;ENSP00000376884:P210L;ENSP00000223215:P219L;ENSP00000401657:P219L	ENSP00000223215:P219L	P	+	2	0	MEST	129927874	0.913000	0.31002	0.971000	0.41717	0.992000	0.81027	1.823000	0.39062	2.821000	0.97095	0.561000	0.74099	CCA		0.517	MEST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345183.2	NM_002402		T	130140638	C	T	130140638	3	4	719	1	0	0	0	0	1	0	0	0	9486	594	21	2	690	2	MEST	7	130140638	Missense_Mutation	SNP	C	TCGA-KM-8441-01A-11D-2310-10		130140638	28998025	23	40315											
FAM160B2	64760	broad.mit.edu;hgsc.bcm.edu	37	8	21956855	21956855	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr8:21956855delC	ENST00000289921.7	+	9	1181	c.1135delC	c.(1135-1137)cccfs	p.P379fs		NM_022749.5	NP_073586.5	Q86V87	F16B2_HUMAN	family with sequence similarity 160, member B2	379										endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						GACCCTGCAGCCCCAGCTCCT	0.587																																																0													48	54	52					8																	21956855		2138	4235	6373	SO:0001589	frameshift_variant	64760			AK025454	CCDS6021.2	8p21.3	2012-11-30	2008-06-05	2008-06-05	ENSG00000158863	ENSG00000158863			16492	protein-coding gene	gene with protein product			"retinoic acid induced 16"	RAI16		22971576, 15626329	Standard	XR_247128		Approved	FLJ21801	uc011kyx.2	Q86V87	OTTHUMG00000097088	ENST00000289921.7:c.1135delC	8.37:g.21956855delC	ENSP00000289921:p.Pro379fs		B2RDQ5|B3KNX1|Q2M211|Q71JB5|Q7L3J6|Q969T0|Q9H6W4	Frame_Shift_Del	DEL	ENST00000289921.7	37	CCDS6021.2																																																																																				0.587	FAM160B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375334.2			-	21956855	C	-	21956855	7	5	719	1	0	1	0	1	0	0	0	0	5473	739	26	0	968	0	FAM160B2	8	21956855	Frame_Shift_Del	DEL	C	TCGA-KM-8441-01A-11D-2310-10		21956855	124407167	24	40316	350	2									
FAM160B2	64760	bcgsc.ca	37	8	21956856	21956856	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr8:21956856delC	ENST00000289921.7	+	9	1182	c.1136delC	c.(1135-1137)cccfs	p.P379fs		NM_022749.5	NP_073586.5	Q86V87	F16B2_HUMAN	family with sequence similarity 160, member B2	379										endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						ACCCTGCAGCCCCAGCTCCTG	0.582																																																0													49	54	52					8																	21956856		2138	4235	6373	SO:0001589	frameshift_variant	64760			AK025454	CCDS6021.2	8p21.3	2012-11-30	2008-06-05	2008-06-05	ENSG00000158863	ENSG00000158863			16492	protein-coding gene	gene with protein product			"retinoic acid induced 16"	RAI16		22971576, 15626329	Standard	XR_247128		Approved	FLJ21801	uc011kyx.2	Q86V87	OTTHUMG00000097088	ENST00000289921.7:c.1136delC	8.37:g.21956856delC	ENSP00000289921:p.Pro379fs		B2RDQ5|B3KNX1|Q2M211|Q71JB5|Q7L3J6|Q969T0|Q9H6W4	Frame_Shift_Del	DEL	ENST00000289921.7	37	CCDS6021.2																																																																																				0.582	FAM160B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375334.2			-	21956856	C	-	21956856	7	5	719	1	0	1	0	1	0	0	0	0	5473	623	22	0	969	0	FAM160B2	8	21956856	Frame_Shift_Del	DEL	C	TCGA-KM-8441-01A-11D-2310-10	1	21956856	124407166	25	40317	350	2									
MCM4	4173	broad.mit.edu	37	8	48882495	48882495	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr8:48882495C>T	ENST00000262105.2	+	10	1521	c.1312C>T	c.(1312-1314)Cag>Tag	p.Q438*	MCM4_ENST00000523944.1_Nonsense_Mutation_p.Q438*|MCM4_ENST00000518680.1_3'UTR	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	438					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)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				AGAAGCAGAACAGAAACTTTT	0.413																																																0													150	146	147					8																	48882495		2203	4300	6503	SO:0001587	stop_gained	4173				CCDS6143.1	8q12-q13	2008-02-05	2007-04-04		ENSG00000104738	ENSG00000104738			6947	protein-coding gene	gene with protein product		602638	"MCM4 minichromosome maintenance deficient 4 (S. cerevisiae)"	CDC21		7601140	Standard	NM_005914		Approved	CDC54, hCdc21, P1-Cdc21, MGC33310	uc003xql.2	P33991	OTTHUMG00000164205	ENST00000262105.2:c.1312C>T	8.37:g.48882495C>T	ENSP00000262105:p.Gln438*		Q8NEH1|Q99658	Nonsense_Mutation	SNP	ENST00000262105.2	37	CCDS6143.1	.	.	.	.	.	.	.	.	.	.	C	35	5.491914	0.96339	.	.	ENSG00000104738	ENST00000523944;ENST00000262105;ENST00000396826;ENST00000429229;ENST00000520637	.	.	.	6.17	6.17	0.99709	.	0.103011	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-17.1867	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	438;438;425;398;156	.	ENSP00000262105:Q438X	Q	+	1	0	MCM4	49045048	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.416000	0.80143	2.941000	0.99782	0.655000	0.94253	CAG		0.413	MCM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377791.1	NM_005914		T	48882495	C	T	48882495	4	4	719	1	0	0	0	0	0	1	0	0	9391	479	17	2	1350	2	MCM4	8	48882495	Nonsense_Mutation	SNP	C	TCGA-KM-8441-01A-11D-2310-10	26925639	48882495	97481527	26	40318											
PCMTD1	115294	mdanderson.org	37	8	52733016	52733016	+	Silent	SNP	T	T	C	rs117828481		TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr8:52733016T>C	ENST00000360540.5	-	7	1375	c.969A>G	c.(967-969)gcA>gcG	p.A323A	PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000544451.1_Silent_p.A247A|PCMTD1_ENST00000522514.1_Silent_p.A323A	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	323						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)				CTGGCTTCATTGCTTCATTGT	0.393																																																0													100	84	89					8																	52733016		2203	4300	6503	SO:0001819	synonymous_variant	115294				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.969A>G	8.37:g.52733016T>C			Q96FK9	Silent	SNP	ENST00000360540.5	37	CCDS6148.1																																																																																				0.393	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2	NM_052937		C	52733016	T	C	52733016	2	2	719	1	0	0	0	0	0	0	0	1	11588	1799	63	3		3	PCMTD1	8	52733016	Silent	SNP	T	TCGA-KM-8441-01A-11D-2310-10	3850521	52733016	93631006	27	40319											
C9orf43	257169	hgsc.bcm.edu;bcgsc.ca	37	9	116183413	116183413	+	Missense_Mutation	SNP	C	C	T			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr9:116183413C>T	ENST00000288462.4	+	5	822	c.376C>T	c.(376-378)Ctt>Ttt	p.L126F	C9orf43_ENST00000374165.1_Missense_Mutation_p.L126F|C9orf43_ENST00000490544.1_3'UTR	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	126										breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						TGAGACGCAACTTCCCTGCCC	0.398																																																0													162	141	148					9																	116183413		2203	4300	6503	SO:0001583	missense	257169			BC026884	CCDS6796.1	9q33.1	2012-03-15			ENSG00000157653	ENSG00000157653			23570	protein-coding gene	gene with protein product						12477932	Standard	NM_152786		Approved	MGC17358	uc004bhp.3	Q8TAL5	OTTHUMG00000020526	ENST00000288462.4:c.376C>T	9.37:g.116183413C>T	ENSP00000288462:p.Leu126Phe			Missense_Mutation	SNP	ENST00000288462.4	37	CCDS6796.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.245199	0.39697	.	.	ENSG00000157653	ENST00000374165;ENST00000288462	T;T	0.56444	0.46;0.46	5.45	3.53	0.40419	.	0.576149	0.14604	N	0.309427	T	0.59018	0.2163	L	0.34521	1.04	0.23589	N	0.997348	D	0.67145	0.996	D	0.68943	0.961	T	0.49224	-0.8962	10	0.44086	T	0.13	-6.1702	11.0582	0.47931	0.367:0.633:0.0:0.0	.	126	Q8TAL5	CI043_HUMAN	F	126	ENSP00000363280:L126F;ENSP00000288462:L126F	ENSP00000288462:L126F	L	+	1	0	C9orf43	115223234	0.119000	0.22226	0.251000	0.24312	0.236000	0.25371	0.171000	0.16685	0.694000	0.31654	0.655000	0.94253	CTT		0.398	C9orf43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053739.1	NM_152786		T	116183413	C	T	116183413	3	4	719	1	0	0	0	0	1	0	0	0	2485	565	20	2	390	2	C9orf43	9	116183413	Missense_Mutation	SNP	C	TCGA-KM-8441-01A-11D-2310-10		116183413	25030018	28	40320											
PAPPA	5069	broad.mit.edu	37	9	118950340	118950340	+	Silent	SNP	C	C	T			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr9:118950340C>T	ENST00000328252.3	+	2	1692	c.1323C>T	c.(1321-1323)cgC>cgT	p.R441R	PAPPA_ENST00000534838.1_5'Flank	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	441	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)	p.R441R(1)		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						GGGATTGCCGCCACCTGCGCC	0.587																																																1	Substitution - coding silent(1)	lung(1)											76	56	63					9																	118950340		2203	4300	6503	SO:0001819	synonymous_variant	5069				CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"insulin-like growth factor-dependent IGF binding protein-4 protease", "aspecific BCL2 ARE-binding protein 2", "differentially placenta 1 expressed protein"	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.1323C>T	9.37:g.118950340C>T			B1AMF9|Q08371|Q68G52|Q9UDK7	Silent	SNP	ENST00000328252.3	37	CCDS6813.1																																																																																				0.587	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		T	118950340	C	T	118950340	2	4	719	1	0	0	0	0	0	0	0	1	11434	726	26	2		2	PAPPA	9	118950340	Silent	SNP	C	TCGA-KM-8441-01A-11D-2310-10	2766927	118950340	22263091	29	40321											
BAG3	9531	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	10	121431909	121431909	+	Missense_Mutation	SNP	C	C	T			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr10:121431909C>T	ENST00000369085.3	+	3	956	c.650C>T	c.(649-651)aCc>aTc	p.T217I		NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	217					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)		CAGAACGTTACCCGGCCAGCA	0.647																																																0													85	83	83					10																	121431909		2203	4300	6503	SO:0001583	missense	9531			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.650C>T	10.37:g.121431909C>T	ENSP00000358081:p.Thr217Ile		A8K5L8|Q3B763|Q9NT20|Q9P120	Missense_Mutation	SNP	ENST00000369085.3	37	CCDS7615.1	.	.	.	.	.	.	.	.	.	.	C	11.72	1.723148	0.30503	.	.	ENSG00000151929	ENST00000369085;ENST00000450186	T;T	0.74632	-0.86;-0.84	6.17	1.97	0.26223	.	0.855613	0.10915	N	0.620169	T	0.64057	0.2564	L	0.51422	1.61	0.09310	N	1	B;B	0.24823	0.112;0.112	B;B	0.19148	0.024;0.024	T	0.51756	-0.8665	10	0.33141	T	0.24	-2.95	6.1116	0.20104	0.2229:0.4998:0.2167:0.0607	.	217;217	O95817;Q53GY1	BAG3_HUMAN;.	I	217;159	ENSP00000358081:T217I;ENSP00000410036:T159I	ENSP00000358081:T217I	T	+	2	0	BAG3	121421899	0.000000	0.05858	0.562000	0.28370	0.963000	0.63663	-0.043000	0.12043	0.875000	0.35847	0.655000	0.94253	ACC		0.647	BAG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050662.1	NM_004281		T	121431909	C	T	121431909	3	4	719	1	0	0	0	0	1	0	0	0	1288	507	18	2	660	2	BAG3	10	121431909	Missense_Mutation	SNP	C	TCGA-KM-8441-01A-11D-2310-10		121431909	14102838	30	40322											
PAMR1	25891	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	11	35492290	35492290	+	Missense_Mutation	SNP	C	C	T			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr11:35492290C>T	ENST00000378880.2	-	5	1016	c.571G>A	c.(571-573)Gat>Aat	p.D191N	PAMR1_ENST00000278360.3_Missense_Mutation_p.D191N|PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000532848.1_Missense_Mutation_p.D151N|PAMR1_ENST00000378878.3_Intron	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	191	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.					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						ATCTGGCCATCGCGGTTGTCT	0.542																																																0													141	107	119					11																	35492290		2202	4298	6500	SO:0001583	missense	25891				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.571G>A	11.37:g.35492290C>T	ENSP00000368158:p.Asp191Asn		A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Missense_Mutation	SNP	ENST00000378880.2	37	CCDS31460.1	.	.	.	.	.	.	.	.	.	.	C	1.701	-0.501550	0.04261	.	.	ENSG00000149090	ENST00000278360;ENST00000378880;ENST00000532848;ENST00000527605	T;T;T;T	0.18016	2.24;2.24;2.24;2.24	5.39	3.43	0.39272	CUB (5);	0.199701	0.52532	N	0.000080	T	0.09905	0.0243	N	0.11756	0.17	0.80722	D	1	B;B	0.16802	0.019;0.015	B;B	0.15052	0.012;0.012	T	0.10567	-1.0624	10	0.87932	D	0	.	9.4997	0.39011	0.1413:0.7822:0.0:0.0765	.	191;191	Q6UXH9;Q6UXH9-2	PAMR1_HUMAN;.	N	191;191;151;151	ENSP00000278360:D191N;ENSP00000368158:D191N;ENSP00000433868:D151N;ENSP00000432591:D151N	ENSP00000278360:D191N	D	-	1	0	PAMR1	35448866	0.984000	0.35163	0.009000	0.14445	0.011000	0.07611	2.568000	0.45965	0.574000	0.29417	0.655000	0.94253	GAT		0.542	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430		T	35492290	C	T	35492290	3	4	719	1	0	0	0	0	1	0	0	0	11415	884	31	1	1674	1	PAMR1	11	35492290	Missense_Mutation	SNP	C	TCGA-KM-8441-01A-11D-2310-10		35492290	99514226	31	40323											
CNTN5	53942	ucsc.edu	37	11	100141946	100141946	+	Missense_Mutation	SNP	T	T	C			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr11:100141946T>C	ENST00000524871.1	+	18	2577	c.2287T>C	c.(2287-2289)Tct>Cct	p.S763P	CNTN5_ENST00000279463.3_Missense_Mutation_p.S763P|CNTN5_ENST00000527185.1_Missense_Mutation_p.S763P|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000528682.1_Missense_Mutation_p.S763P|CNTN5_ENST00000418526.2_Missense_Mutation_p.S689P	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	763	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AAGCACCCCATCTCGAATGAT	0.453																																																0													95	92	93					11																	100141946		1931	4133	6064	SO:0001583	missense	53942			AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.2287T>C	11.37:g.100141946T>C	ENSP00000435637:p.Ser763Pro		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.562517	0.86335	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51	5.51	5.51	0.81932	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.83096	0.5180	H	0.98682	4.3	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	D	0.89696	0.3901	10	0.87932	D	0	.	14.8139	0.70017	0.0:0.0:0.0:1.0	.	689;763	O94779-2;O94779	.;CNTN5_HUMAN	P	763;763;763;689;763	ENSP00000433575:S763P;ENSP00000436185:S763P;ENSP00000435637:S763P;ENSP00000393229:S689P;ENSP00000279463:S763P	ENSP00000279463:S763P	S	+	1	0	CNTN5	99647156	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.589000	0.82641	2.094000	0.63399	0.383000	0.25322	TCT		0.453	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		C	100141946	T	C	100141946	3	2	719	1	0	0	0	0	1	0	0	0	3646	1435	50	3	2349	3	CNTN5	11	100141946	Missense_Mutation	SNP	T	TCGA-KM-8441-01A-11D-2310-10	64649656	100141946	34864570	32	40324											
ACAT1	38	mdanderson.org	37	11	107992346	107992346	+	Missense_Mutation	SNP	G	G	C	rs11540420|rs3741056	byFrequency	TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr11:107992346G>C	ENST00000265838.4	+	1	104	c.13G>C	c.(13-15)Gcg>Ccg	p.A5P	ACAT1_ENST00000299355.6_Missense_Mutation_p.A5P|RP11-144G7.2_ENST00000525548.1_RNA	NM_000019.3	NP_000010.1	P24752	THIL_HUMAN	acetyl-CoA acetyltransferase 1	5			A -> P (in dbSNP:rs3741056).		adipose tissue development (GO:0060612)|brain development (GO:0007420)|branched-chain amino acid catabolic process (GO:0009083)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cellular nitrogen compound metabolic process (GO:0034641)|ketone body biosynthetic process (GO:0046951)|ketone body catabolic process (GO:0046952)|liver development (GO:0001889)|metanephric proximal convoluted tubule development (GO:0072229)|protein homooligomerization (GO:0051260)|response to hormone (GO:0009725)|response to organic cyclic compound (GO:0014070)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	acetyl-CoA C-acetyltransferase activity (GO:0003985)|coenzyme binding (GO:0050662)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2)	10		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|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;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	Sulfasalazine(DB00795)	GGCTGTGCTGGCGGCACTTCT	0.726													G|||	1662	0.331869	0.1293	0.4222	5008	,	,		13418	0.3601		0.3419	False		,,,				2504	0.502															0								G	PRO/ALA	498,3570		40,418,1576	7	7	7		13	0.2	0	11	dbSNP_107	7	2021,5923		259,1503,2210	yes	missense	ACAT1	NM_000019.3	27	299,1921,3786	CC,CG,GG		25.4406,12.2419,20.9707	possibly-damaging	5/428	107992346	2519,9493	2034	3972	6006	SO:0001583	missense	38			D90228	CCDS8339.1	11q22.3	2010-04-30	2010-04-30		ENSG00000075239	ENSG00000075239	2.3.1.9		93	protein-coding gene	gene with protein product	"acetoacetyl Coenzyme A thiolase"	607809	"acetyl-Coenzyme A acetyltransferase 1"	ACAT		1979337	Standard	NM_000019		Approved	THIL	uc001pjy.3	P24752	OTTHUMG00000166381	ENST00000265838.4:c.13G>C	11.37:g.107992346G>C	ENSP00000265838:p.Ala5Pro		B2R6H1|G3XAB4|Q96FG8	Missense_Mutation	SNP	ENST00000265838.4	37	CCDS8339.1	677	0.309981684981685	73	0.1483739837398374	142	0.39226519337016574	210	0.36713286713286714	252	0.3324538258575198	G	16.39	3.111218	0.56398	0.122419	0.254406	ENSG00000075239	ENST00000265838;ENST00000299355	D;D	0.93906	-3.13;-3.31	3.31	0.195	0.15151	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	P;P	0.37864	0.61;0.514	B;B	0.35688	0.103;0.208	T	0.11792	-1.0573	8	0.66056	D	0.02	-1.264	2.6303	0.04942	0.2756:0.0:0.4998:0.2246	rs3741056;rs17800684;rs17845275;rs17858107;rs3741056	5;5	P24752;G3XAB4	THIL_HUMAN;.	P	5	ENSP00000265838:A5P;ENSP00000299355:A5P	ENSP00000265838:A5P	A	+	1	0	ACAT1	107497556	0.001000	0.12720	0.002000	0.10522	0.760000	0.43138	-0.118000	0.10692	0.050000	0.15949	-0.475000	0.04921	GCG		0.726	ACAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389474.1	NM_000019		C	107992346	G	C	107992346	3	2	719	1	0	0	0	0	1	0	0	0	121	1203	42	4	15	4	ACAT1	11	107992346	Missense_Mutation	SNP	G	TCGA-KM-8441-01A-11D-2310-10	7850400	107992346	27014170	33	40325											
FOXM1	2305	ucsc.edu	37	12	2968317	2968317	+	Silent	SNP	T	T	C			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr12:2968317T>C	ENST00000359843.3	-	9	1847	c.1779A>G	c.(1777-1779)gaA>gaG	p.E593E	FOXM1_ENST00000361953.3_Silent_p.E578E|FOXM1_ENST00000342628.2_Silent_p.E631E|AC005841.1_ENST00000382678.3_5'Flank|ITFG2_ENST00000545509.1_Intron|Y_RNA_ENST00000410561.1_RNA	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1	593					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)			GTCCTCCCACTTCCTGGGAGT	0.602																																																0													49	57	54					12																	2968317		2194	4287	6481	SO:0001819	synonymous_variant	2305			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.1779A>G	12.37:g.2968317T>C			O43258|O43259|O43260|Q4ZGG7|Q9BRL2	Silent	SNP	ENST00000359843.3	37	CCDS8515.1																																																																																				0.602	FOXM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398272.1	NM_021953		C	2968317	T	C	2968317	2	2	719	1	0	0	0	0	0	0	0	1	6020	1606	56	3		3	FOXM1	12	2968317	Silent	SNP	T	TCGA-KM-8441-01A-11D-2310-10		2968317	130883578	34	40326											
OR4K5	79317	broad.mit.edu	37	14	20389392	20389392	+	Silent	SNP	C	C	T			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr14:20389392C>T	ENST00000315915.4	+	1	652	c.627C>T	c.(625-627)agC>agT	p.S209S		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	209						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(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTTCCCTAAGCACTTTCTCTC	0.428																																																0													266	276	273					14																	20389392		2203	4300	6503	SO:0001819	synonymous_variant	79317			BK004355	CCDS32024.1	14q11.22	2012-08-09				ENSG00000176281		"GPCR / Class A : Olfactory receptors"	14745	protein-coding gene	gene with protein product						14983052	Standard	NM_001005483		Approved		uc010tkw.2	Q8NGD3		ENST00000315915.4:c.627C>T	14.37:g.20389392C>T			Q6IFA7	Silent	SNP	ENST00000315915.4	37	CCDS32024.1																																																																																				0.428	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409867.1	NM_001005483		T	20389392	C	T	20389392	2	4	719	1	0	0	0	0	0	0	0	1	11075	709	25	2		2	OR4K5	14	20389392	Silent	SNP	C	TCGA-KM-8441-01A-11D-2310-10		20389392	86960148	35	40327											
FLRT2	23768	broad.mit.edu	37	14	86088695	86088695	+	Silent	SNP	A	A	G			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr14:86088695A>G	ENST00000330753.4	+	2	1604	c.837A>G	c.(835-837)gaA>gaG	p.E279E	FLRT2_ENST00000554746.1_Silent_p.E279E	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	279					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|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)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GTAAGCTGGAACGGCTGGATA	0.488																																																0													161	163	163					14																	86088695		2203	4300	6503	SO:0001819	synonymous_variant	23768			AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"Fibronectin type III domain containing"	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.837A>G	14.37:g.86088695A>G			A0AV84|B7ZLP3	Silent	SNP	ENST00000330753.4	37	CCDS9877.1																																																																																				0.488	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			G	86088695	A	G	86088695	2	3	719	1	0	0	0	0	0	0	0	1	5941	40	2	3		3	FLRT2	14	86088695	Silent	SNP	A	TCGA-KM-8441-01A-11D-2310-10	65699303	86088695	21260845	36	40328											
SLC25A29	123096	mdanderson.org	37	14	100759046	100759046	+	Silent	SNP	C	C	A	rs3825555	byFrequency	TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr14:100759046C>A	ENST00000359232.3	-	4	786	c.486G>T	c.(484-486)acG>acT	p.T162T	SLC25A29_ENST00000556505.1_Silent_p.T96T|AL157871.2_ENST00000553954.1_RNA|RP11-638I2.6_ENST00000556458.1_lincRNA|SLC25A29_ENST00000539621.1_Silent_p.T96T|SLC25A29_ENST00000554912.1_Silent_p.T96T|SLC25A29_ENST00000555927.1_Silent_p.T96T|SLC25A29_ENST00000392908.3_3'UTR	NM_001039355.1	NP_001034444.1	Q8N8R3	MCATL_HUMAN	solute carrier family 25 (mitochondrial carnitine/acylcarnitine carrier), member 29	162						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	acyl carnitine transmembrane transporter activity (GO:0015227)			NS(1)|endometrium(1)|ovary(1)	3		Melanoma(154;0.152)			L-Carnitine(DB00583)	CGAAGCTGGGCGTCTCACGCA	0.682													C|||	2656	0.530351	0.3865	0.6081	5008	,	,		13189	0.7083		0.5676	False		,,,				2504	0.4479															0								C		1913,2477		431,1051,713	29	19	22		486	1.1	1	14	dbSNP_107	22	4870,3718		1397,2076,821	no	coding-synonymous	SLC25A29	NM_001039355.1		1828,3127,1534	AA,AC,CC		43.293,43.5763,47.7346		162/304	100759046	6783,6195	2195	4294	6489	SO:0001819	synonymous_variant	123096			AK095532	CCDS32156.1	14q32.2	2013-05-22	2012-03-29	2004-01-21	ENSG00000197119	ENSG00000197119		"Solute carriers"	20116	protein-coding gene	gene with protein product		615064	"chromosome 14 open reading frame 69", "solute carrier family 25, member 29"	C14orf69			Standard	XM_005267343		Approved	FLJ38975	uc010twx.2	Q8N8R3	OTTHUMG00000171569	ENST00000359232.3:c.486G>T	14.37:g.100759046C>A			A3KMR5|Q541V0	Silent	SNP	ENST00000359232.3	37	CCDS32156.1																																																																																				0.682	SLC25A29-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072449.3			A	100759046	C	A	100759046	2	1	719	1	0	0	0	0	0	0	0	1	14498	755	27	4		4	SLC25A29	14	100759046	Silent	SNP	C	TCGA-KM-8441-01A-11D-2310-10	14670351	100759046	6590494	37	40329											
PLD4	122618	broad.mit.edu	37	14	105393529	105393529	+	Missense_Mutation	SNP	A	A	G			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr14:105393529A>G	ENST00000392593.4	+	2	220	c.52A>G	c.(52-54)Atg>Gtg	p.M18V	PLD4_ENST00000540372.1_Missense_Mutation_p.M25V	NM_138790.2	NP_620145.2	Q96BZ4	PLD4_HUMAN	phospholipase D family, member 4	18					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)			GCCATGCTCCATGCCGCCCCG	0.662																																																0													11	13	13					14																	105393529		1937	4121	6058	SO:0001583	missense	122618				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.52A>G	14.37:g.105393529A>G	ENSP00000376372:p.Met18Val		Q6UWD2	Missense_Mutation	SNP	ENST00000392593.4	37	CCDS9995.2	.	.	.	.	.	.	.	.	.	.	A	2.297	-0.361131	0.05103	.	.	ENSG00000166428	ENST00000540372;ENST00000392593;ENST00000557573	T;T;T	0.19669	2.13;2.13;2.13	2.57	-1.83	0.07833	.	.	.	.	.	T	0.06690	0.0171	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	0.37934	-0.9684	9	0.06757	T	0.87	-4.4028	2.3307	0.04235	0.4379:0.0:0.3314:0.2307	.	25;18	F5H2B5;Q96BZ4	.;PLD4_HUMAN	V	25;18;18	ENSP00000438677:M25V;ENSP00000376372:M18V;ENSP00000451278:M18V	ENSP00000376372:M18V	M	+	1	0	PLD4	104464574	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.225000	0.02956	-0.406000	0.07588	-0.385000	0.06624	ATG		0.662	PLD4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000291348.2	NM_138790		G	105393529	A	G	105393529	3	3	719	1	0	0	0	0	1	0	0	0	12050	217	8	3	54	3	PLD4	14	105393529	Missense_Mutation	SNP	A	TCGA-KM-8441-01A-11D-2310-10	4634483	105393529	1956011	38	40330											
SECISBP2L	9728	hgsc.bcm.edu;bcgsc.ca	37	15	49304956	49304956	+	Missense_Mutation	SNP	T	T	A			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr15:49304956T>A	ENST00000559471.1	-	12	1883	c.1620A>T	c.(1618-1620)aaA>aaT	p.K540N	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.K495N	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	540							poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						AGGGCTGACTTTTGGTTAAAG	0.363																																																0													111	117	115					15																	49304956		2197	4295	6492	SO:0001583	missense	9728			BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.1620A>T	15.37:g.49304956T>A	ENSP00000453854:p.Lys540Asn		Q8N767	Missense_Mutation	SNP	ENST00000559471.1	37	CCDS53942.1	.	.	.	.	.	.	.	.	.	.	T	16.71	3.198546	0.58126	.	.	ENSG00000138593	ENST00000261847;ENST00000380927	T	0.74209	-0.82	5.76	4.65	0.58169	.	0.146472	0.64402	D	0.000012	T	0.67655	0.2916	L	0.60455	1.87	0.38431	D	0.946435	P;P	0.39480	0.664;0.675	B;B	0.38106	0.157;0.265	T	0.70389	-0.4885	10	0.72032	D	0.01	.	6.2599	0.20893	0.0:0.2924:0.0:0.7076	.	540;495	Q93073;Q93073-2	SBP2L_HUMAN;.	N	495;540	ENSP00000261847:K495N	ENSP00000261847:K495N	K	-	3	2	SECISBP2L	47092248	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.105000	0.31086	1.026000	0.39733	0.528000	0.53228	AAA		0.363	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1	NM_014701		A	49304956	T	A	49304956	3	1	719	1	0	0	0	0	1	0	0	0	14013	1838	64	5	1713	5	SECISBP2L	15	49304956	Missense_Mutation	SNP	T	TCGA-KM-8441-01A-11D-2310-10		49304956	53226436	39	40331											
FOXB1	27023	ucsc.edu;bcgsc.ca	37	15	60297497	60297497	+	Missense_Mutation	SNP	T	T	C			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr15:60297497T>C	ENST00000396057.4	+	2	814	c.335T>C	c.(334-336)cTt>cCt	p.L112P	FOXB1_ENST00000560857.1_Intron	NM_012182.2	NP_036314.2	Q99853	FOXB1_HUMAN	forkhead box B1	112					axon target recognition (GO:0007412)|cell migration in diencephalon (GO:0061381)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|floor plate development (GO:0033504)|hypothalamus cell migration (GO:0021855)|inferior colliculus development (GO:0061379)|lactation (GO:0007595)|mammary gland lobule development (GO:0061377)|mammillary body development (GO:0021767)|mammillothalamic axonal tract development (GO:0061374)|midbrain development (GO:0030901)|negative regulation of neuron apoptotic process (GO:0043524)|somitogenesis (GO:0001756)|spinal cord development (GO:0021510)|telencephalon cell migration (GO:0022029)|thalamus development (GO:0021794)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)|visual learning (GO:0008542)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)	6						TTCAAGGTGCTTAAGTCCGAC	0.697																																																0													16	18	17					15																	60297497		2201	4296	6497	SO:0001583	missense	27023			AF055080	CCDS32255.1	15q22.2	2014-09-09			ENSG00000171956	ENSG00000171956		"Forkhead boxes"	3799	protein-coding gene	gene with protein product							Standard	NM_012182		Approved	HFKH-5, FKH5	uc002agj.1	Q99853	OTTHUMG00000172011	ENST00000396057.4:c.335T>C	15.37:g.60297497T>C	ENSP00000379369:p.Leu112Pro		O60652|O75917|Q14CL2	Missense_Mutation	SNP	ENST00000396057.4	37	CCDS32255.1	.	.	.	.	.	.	.	.	.	.	T	13.12	2.142675	0.37825	.	.	ENSG00000171956	ENST00000396057	D	0.95756	-3.8	3.72	3.72	0.42706	.	0.611409	0.14027	U	0.346420	D	0.88603	0.6481	N	0.11131	0.1	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.83225	-0.0066	10	0.27785	T	0.31	.	11.3903	0.49811	0.0:0.0:0.0:1.0	.	112	Q99853	FOXB1_HUMAN	P	112	ENSP00000379369:L112P	ENSP00000379369:L112P	L	+	2	0	FOXB1	58084789	0.210000	0.23517	0.998000	0.56505	0.951000	0.60555	2.577000	0.46042	1.529000	0.49120	0.528000	0.53228	CTT		0.697	FOXB1-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416378.1			C	60297497	T	C	60297497	3	2	719	1	0	0	0	0	1	0	0	0	5994	1609	56	3	337	3	FOXB1	15	60297497	Missense_Mutation	SNP	T	TCGA-KM-8441-01A-11D-2310-10	10992541	60297497	42233895	40	40332											
SCAPER	49855	broad.mit.edu;bcgsc.ca	37	15	77046256	77046256	+	Missense_Mutation	SNP	G	G	T			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr15:77046256G>T	ENST00000563290.1	-	15	1854	c.1759C>A	c.(1759-1761)Cta>Ata	p.L587I	SCAPER_ENST00000324767.7_Missense_Mutation_p.L587I|SCAPER_ENST00000538941.2_Missense_Mutation_p.L341I			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	587	Glu-rich.					endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						CGTTGATCTAGCAATTCTTCC	0.358																																																0													226	212	216					15																	77046256		1860	4098	5958	SO:0001583	missense	49855			AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"Zinc fingers, C2H2-type"	13081	protein-coding gene	gene with protein product		611611	"zinc finger protein 291"	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.1759C>A	15.37:g.77046256G>T	ENSP00000454973:p.Leu587Ile		F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Missense_Mutation	SNP	ENST00000563290.1	37	CCDS53962.1	.	.	.	.	.	.	.	.	.	.	G	12.97	2.096071	0.36952	.	.	ENSG00000140386	ENST00000324767;ENST00000538941;ENST00000303521	T;T	0.23754	1.9;1.89	5.77	0.596	0.17496	.	0.000000	0.85682	D	0.000000	T	0.14098	0.0341	N	0.05441	-0.05	0.38119	D	0.937796	P;P	0.37276	0.539;0.589	B;B	0.41988	0.372;0.284	T	0.14144	-1.0483	10	0.33940	T	0.23	.	9.9934	0.41885	0.6168:0.0:0.3832:0.0	.	608;341	Q9BY12-2;F5H7X8	.;.	I	587;341;609	ENSP00000326924:L587I;ENSP00000442190:L341I	ENSP00000303560:L609I	L	-	1	2	SCAPER	74833311	0.924000	0.31332	0.810000	0.32431	0.962000	0.63368	0.245000	0.18142	-0.135000	0.11495	0.655000	0.94253	CTA		0.358	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419698.1	NM_020843		T	77046256	G	T	77046256	3	4	719	1	0	0	0	0	1	0	0	0	13884	962	34	4	2515	4	SCAPER	15	77046256	Missense_Mutation	SNP	G	TCGA-KM-8441-01A-11D-2310-10	16748759	77046256	25485136	41	40333	351	2									
SCAPER	49855	bcgsc.ca	37	15	77046257	77046257	+	Missense_Mutation	SNP	C	C	A			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr15:77046257C>A	ENST00000563290.1	-	15	1853	c.1758G>T	c.(1756-1758)ttG>ttT	p.L586F	SCAPER_ENST00000324767.7_Missense_Mutation_p.L586F|SCAPER_ENST00000538941.2_Missense_Mutation_p.L340F			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	586	Glu-rich.					endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						GTTGATCTAGCAATTCTTCCT	0.363																																																0													225	211	215					15																	77046257		1860	4098	5958	SO:0001583	missense	49855			AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"Zinc fingers, C2H2-type"	13081	protein-coding gene	gene with protein product		611611	"zinc finger protein 291"	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.1758G>T	15.37:g.77046257C>A	ENSP00000454973:p.Leu586Phe		F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Missense_Mutation	SNP	ENST00000563290.1	37	CCDS53962.1	.	.	.	.	.	.	.	.	.	.	c	17.66	3.445129	0.63178	.	.	ENSG00000140386	ENST00000324767;ENST00000538941;ENST00000303521	T;T	0.32753	1.48;1.44	5.77	-0.477	0.12097	.	0.000000	0.85682	D	0.000000	T	0.47248	0.1435	M	0.64170	1.965	0.43263	D	0.995206	D;D	0.89917	1.0;1.0	D;D	0.81914	0.992;0.995	T	0.29397	-1.0013	10	0.44086	T	0.13	.	12.4807	0.55839	0.0:0.4418:0.0:0.5582	.	607;340	Q9BY12-2;F5H7X8	.;.	F	586;340;608	ENSP00000326924:L586F;ENSP00000442190:L340F	ENSP00000303560:L608F	L	-	3	2	SCAPER	74833312	0.939000	0.31865	0.804000	0.32291	0.951000	0.60555	0.619000	0.24388	-0.346000	0.08312	-1.057000	0.02308	TTG		0.363	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419698.1	NM_020843		A	77046257	C	A	77046257	3	1	719	1	0	0	0	0	1	0	0	0	13884	709	25	4	2516	4	SCAPER	15	77046257	Missense_Mutation	SNP	C	TCGA-KM-8441-01A-11D-2310-10	1	77046257	25485135	42	40334	351	2									
TSC2	7249	bcgsc.ca	37	16	2131706	2131706	+	Missense_Mutation	SNP	T	T	C			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr16:2131706T>C	ENST00000219476.3	+	31	4351	c.3721T>C	c.(3721-3723)Ttc>Ctc	p.F1241L	TSC2_ENST00000382538.6_Missense_Mutation_p.F1149L|TSC2_ENST00000353929.4_Missense_Mutation_p.F1198L|TSC2_ENST00000568454.1_Missense_Mutation_p.F1208L|TSC2_ENST00000401874.2_Missense_Mutation_p.F1197L|TSC2_ENST00000350773.4_Missense_Mutation_p.F1241L|TSC2_ENST00000439673.2_Missense_Mutation_p.F1161L	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1241					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)				GGCTGAGCGCTTCAAGGAGCA	0.627			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																													yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"E, O"	0													74	62	66					16																	2131706		2198	4299	6497	SO:0001583	missense	7249	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 160"	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.3721T>C	16.37:g.2131706T>C	ENSP00000219476:p.Phe1241Leu		A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	T	14.28	2.486907	0.44249	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D	0.88277	-2.3;-2.3;-2.36;-2.34;-2.29	4.7	4.7	0.59300	.	0.199293	0.45126	D	0.000394	D	0.86514	0.5951	L	0.31294	0.92	0.37284	D	0.907948	B;B;B;B;B;D	0.54964	0.008;0.013;0.013;0.003;0.141;0.969	B;B;B;B;B;D	0.63381	0.019;0.043;0.043;0.043;0.049;0.914	T	0.83306	-0.0025	10	0.07175	T	0.84	-37.4738	7.2036	0.25895	0.0:0.1691:0.0:0.8309	.	1149;1161;1241;1197;1197;1241	B4DIL8;P49815-6;P49815-4;P49815-3;P49815-5;P49815	.;.;.;.;.;TSC2_HUMAN	L	1241;1198;1198;1161;1149;1241	ENSP00000219476:F1241L;ENSP00000248099:F1198L;ENSP00000399232:F1161L;ENSP00000371978:F1149L;ENSP00000344383:F1241L	ENSP00000219476:F1241L	F	+	1	0	TSC2	2071707	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	3.291000	0.51764	1.767000	0.52121	0.459000	0.35465	TTC		0.627	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		C	2131706	T	C	2131706	3	2	719	1	0	0	0	0	1	0	0	0	16611	1609	56	3	3839	3	TSC2	16	2131706	Missense_Mutation	SNP	T	TCGA-KM-8441-01A-11D-2310-10		2131706	88223047	43	40335											
ZNF668	79759	broad.mit.edu	37	16	31072731	31072731	+	Silent	SNP	A	A	C			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr16:31072731A>C	ENST00000538906.1	-	3	2302	c.1518T>G	c.(1516-1518)ggT>ggG	p.G506G	ZNF668_ENST00000426488.2_Silent_p.G529G|ZNF668_ENST00000300849.4_Silent_p.G506G|ZNF668_ENST00000394983.2_Silent_p.G506G|ZNF668_ENST00000417110.2_5'Flank|ZNF668_ENST00000539836.3_Silent_p.G529G|ZNF668_ENST00000535577.1_Silent_p.G506G	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	506					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						CAGCCTCCTCACCCCCCGCCT	0.652																																					Colon(181;1111 1980 5060 10512 25785)											0													45	50	48					16																	31072731		2197	4300	6497	SO:0001819	synonymous_variant	79759				CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394		"Zinc fingers, C2H2-type"	25821	protein-coding gene	gene with protein product						12477932	Standard	NM_024706		Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.1518T>G	16.37:g.31072731A>C			C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Silent	SNP	ENST00000538906.1	37	CCDS10701.1																																																																																				0.652	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108516.2	NM_024706		C	31072731	A	C	31072731	2	2	719	1	0	0	0	0	0	0	0	1	18080	146	6	5		5	ZNF668	16	31072731	Silent	SNP	A	TCGA-KM-8441-01A-11D-2310-10	28941025	31072731	59282022	44	40336											
ITGAX	3687	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	16	31393193	31393193	+	Missense_Mutation	SNP	G	G	A			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr16:31393193G>A	ENST00000268296.4	+	30	3578	c.3457G>A	c.(3457-3459)Ggg>Agg	p.G1153R	ITGAX_ENST00000562522.1_Missense_Mutation_p.G1153R	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	1153					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						CCCAGAAAACGGGACACAGAC	0.537																																																0													137	145	142					16																	31393193		2197	4300	6497	SO:0001583	missense	3687			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.3457G>A	16.37:g.31393193G>A	ENSP00000268296:p.Gly1153Arg		Q8IVA6	Missense_Mutation	SNP	ENST00000268296.4	37	CCDS10711.1	.	.	.	.	.	.	.	.	.	.	G	11.00	1.511074	0.27036	.	.	ENSG00000140678	ENST00000268296	T	0.59772	0.24	5.41	3.45	0.39498	.	.	.	.	.	T	0.49355	0.1552	L	0.55990	1.75	0.09310	N	1	B;B	0.24258	0.022;0.1	B;B	0.15870	0.003;0.014	T	0.37753	-0.9692	9	0.36615	T	0.2	.	8.6787	0.34196	0.1788:0.0:0.8212:0.0	.	1153;338	P20702;Q8TES5	ITAX_HUMAN;.	R	1153	ENSP00000268296:G1153R	ENSP00000268296:G1153R	G	+	1	0	ITGAX	31300694	0.001000	0.12720	0.001000	0.08648	0.027000	0.11550	0.532000	0.23067	0.755000	0.32990	-0.216000	0.12614	GGG		0.537	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		A	31393193	G	A	31393193	3	1	719	1	0	0	0	0	1	0	0	0	7891	1116	39	1	3575	1	ITGAX	16	31393193	Missense_Mutation	SNP	G	TCGA-KM-8441-01A-11D-2310-10	320462	31393193	58961560	45	40337											
SETD6	79918	broad.mit.edu;mdanderson.org;bcgsc.ca	37	16	58550764	58550764	+	Missense_Mutation	SNP	G	G	A	rs530582932		TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr16:58550764G>A	ENST00000219315.4	+	5	774	c.724G>A	c.(724-726)Gtg>Atg	p.V242M	SETD6_ENST00000418480.1_3'UTR|SETD6_ENST00000310682.2_Missense_Mutation_p.V218M|SETD6_ENST00000394266.4_Missense_Mutation_p.V173M			Q8TBK2	SETD6_HUMAN	SET domain containing 6	242	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				negative regulation of NF-kappaB transcription factor activity (GO:0032088)|peptidyl-lysine monomethylation (GO:0018026)|regulation of inflammatory response (GO:0050727)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	NF-kappaB binding (GO:0051059)|protein-lysine N-methyltransferase activity (GO:0016279)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	7						CAACTCCCCCGTGATGGTGCC	0.517													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19309	0.0		0.0	False		,,,				2504	0.0															0													200	199	200					16																	58550764		2198	4300	6498	SO:0001583	missense	79918			AK024801	CCDS10798.1, CCDS54013.1	16q21	2008-02-05			ENSG00000103037	ENSG00000103037			26116	protein-coding gene	gene with protein product						12477932	Standard	NM_024860		Approved	FLJ21148	uc002ens.3	Q8TBK2	OTTHUMG00000150276	ENST00000219315.4:c.724G>A	16.37:g.58550764G>A	ENSP00000219315:p.Val242Met		A8K380|B5ME38|Q9H787	Missense_Mutation	SNP	ENST00000219315.4	37	CCDS54013.1	.	.	.	.	.	.	.	.	.	.	G	6.139	0.393900	0.11638	.	.	ENSG00000103037	ENST00000310682;ENST00000394266;ENST00000219315	T;T;T	0.14516	2.5;2.5;2.5	5.42	-1.46	0.08800	SET domain (2);	0.157090	0.51477	D	0.000082	T	0.02807	0.0084	N	0.01188	-0.97	0.24770	N	0.992877	B;B;B	0.22003	0.063;0.011;0.044	B;B;B	0.15484	0.013;0.006;0.002	T	0.32719	-0.9896	10	0.38643	T	0.18	-14.0441	0.105	0.00051	0.2572:0.1857:0.2408:0.3163	.	218;242;218	E9PC53;Q8TBK2;Q8TBK2-2	.;SETD6_HUMAN;.	M	218;173;242	ENSP00000310082:V218M;ENSP00000377809:V173M;ENSP00000219315:V242M	ENSP00000219315:V242M	V	+	1	0	SETD6	57108265	0.810000	0.29049	0.886000	0.34754	0.715000	0.41141	1.450000	0.35134	0.037000	0.15575	-0.500000	0.04577	GTG		0.517	SETD6-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317274.2	NM_024860		A	58550764	G	A	58550764	3	1	719	1	0	0	0	0	1	0	0	0	14141	1145	40	1	742	1	SETD6	16	58550764	Missense_Mutation	SNP	G	TCGA-KM-8441-01A-11D-2310-10	27157571	58550764	31803989	46	40338											
HYDIN	54768	mdanderson.org	37	16	71025245	71025245	+	Silent	SNP	C	C	T	rs1774516	byFrequency	TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr16:71025245C>T	ENST00000393567.2	-	25	3990	c.3840G>A	c.(3838-3840)acG>acA	p.T1280T		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1280					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)				TGGAAGCTTTCGTTTTTCTTA	0.463																																																0													130	119	122					16																	71025245		1909	4145	6054	SO:0001819	synonymous_variant	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.3840G>A	16.37:g.71025245C>T			A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	CCDS59269.1																																																																																				0.463	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			T	71025245	C	T	71025245	2	4	719	1	0	0	0	0	0	0	0	1	7469	871	31	1		1	HYDIN	16	71025245	Silent	SNP	C	TCGA-KM-8441-01A-11D-2310-10	12474481	71025245	19329508	47	40339											
GALNS	2588	broad.mit.edu;hgsc.bcm.edu	37	16	88908341	88908346	+	In_Frame_Del	DEL	TGCGGA	TGCGGA	-	rs118204441		TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	TGCGGA	TGCGGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr16:88908341_88908346delTGCGGA	ENST00000268695.5	-	3	366_371	c.278_283delTCCGCA	c.(277-285)atccgcaat>aat	p.IR93del	GALNS_ENST00000542788.1_Intron|GALNS_ENST00000565364.1_5'UTR	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfatase	93	Catalytic domain.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)|N-acetylgalactosamine-6-sulfatase activity (GO:0043890)|sulfuric ester hydrolase activity (GO:0008484)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)		TAGAAGCCATTGCGGATGGGTAGCCG	0.617																																					GBM(129;1929 2344 25209 33204)											0			GRCh37	CM054741|CM950526|CM950527	GALNS	M	rs118204441																																			SO:0001651	inframe_deletion	2588			D17629	CCDS10970.1	16q24.3	2014-07-03	2014-07-03		ENSG00000141012	ENSG00000141012	3.1.6.4	"Arylsulfatase family"	4122	protein-coding gene	gene with protein product	"Morquio syndrome", "mucopolysaccharidosis type IVA"	612222	"galactosamine (N-acetyl)-6-sulfate sulfatase"			1755850	Standard	NM_000512		Approved	GAS, GALNAC6S	uc002fly.4	P34059	OTTHUMG00000137862	ENST00000268695.5:c.278_283delTCCGCA	16.37:g.88908341_88908346delTGCGGA	ENSP00000268695:p.Ile93_Arg94del		Q86VK3	In_Frame_Del	DEL	ENST00000268695.5	37	CCDS10970.1																																																																																				0.617	GALNS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269543.1			-	88908346	TGCGGA	-	88908341	7	5	719	1	0	1	0	1	0	0	0	0	6208	1812	63	0	1333	0	GALNS	16	88908341	In_Frame_Del	DEL	TGCGGA	TCGA-KM-8441-01A-11D-2310-10	17883096	88908341	1446412	48	40340	352	2	1	85		3	2	15	N	TGCGGA_C	2.62298e-05
GALNS	2588	bcgsc.ca	37	16	88908342	88908347	+	In_Frame_Del	DEL	TGCGGA	TGCGGA	-	rs118204441		TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	TGCGGA	TGCGGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr16:88908342_88908347delTGCGGA	ENST00000268695.5	-	3	365_370	c.277_282delTCCGCA	c.(277-282)tccgcadel	p.SA93del	GALNS_ENST00000542788.1_Intron|GALNS_ENST00000565364.1_5'UTR	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfatase	93	Catalytic domain.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)|N-acetylgalactosamine-6-sulfatase activity (GO:0043890)|sulfuric ester hydrolase activity (GO:0008484)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)		AGAAGCCATTGCGGATGGGTAGCCGT	0.621																																					GBM(129;1929 2344 25209 33204)											0			GRCh37	CM054741|CM950526|CM950527	GALNS	M	rs118204441																																			SO:0001651	inframe_deletion	2588			D17629	CCDS10970.1	16q24.3	2014-07-03	2014-07-03		ENSG00000141012	ENSG00000141012	3.1.6.4	"Arylsulfatase family"	4122	protein-coding gene	gene with protein product	"Morquio syndrome", "mucopolysaccharidosis type IVA"	612222	"galactosamine (N-acetyl)-6-sulfate sulfatase"			1755850	Standard	NM_000512		Approved	GAS, GALNAC6S	uc002fly.4	P34059	OTTHUMG00000137862	ENST00000268695.5:c.277_282delTCCGCA	16.37:g.88908342_88908347delTGCGGA	ENSP00000268695:p.Ser93_Ala94del		Q86VK3	In_Frame_Del	DEL	ENST00000268695.5	37	CCDS10970.1																																																																																				0.621	GALNS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269543.1			-	88908347	TGCGGA	-	88908342	7	5	719	1	0	1	0	1	0	0	0	0	6208	1306	46	0	1334	0	GALNS	16	88908342	In_Frame_Del	DEL	TGCGGA	TCGA-KM-8441-01A-11D-2310-10	1	88908342	1446411	49	40341	352	2	1	85		3	2	15	N	TGCGGA_C	2.62298e-05
GALNS	2588	bcgsc.ca	37	16	88908355	88908355	+	Missense_Mutation	SNP	C	C	T			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr16:88908355C>T	ENST00000268695.5	-	3	357	c.269G>A	c.(268-270)cGg>cAg	p.R90Q	GALNS_ENST00000542788.1_Intron|GALNS_ENST00000565364.1_5'UTR	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfatase	90	Catalytic domain.		R -> W (in MPS4A; severe form). {ECO:0000269|PubMed:24726177, ECO:0000269|PubMed:7633425, ECO:0000269|PubMed:7668283}.		carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)|N-acetylgalactosamine-6-sulfatase activity (GO:0043890)|sulfuric ester hydrolase activity (GO:0008484)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)		GATGGGTAGCCGTCCTGTGAG	0.612																																					GBM(129;1929 2344 25209 33204)											0													156	115	129					16																	88908355		2194	4299	6493	SO:0001583	missense	2588			D17629	CCDS10970.1	16q24.3	2014-07-03	2014-07-03		ENSG00000141012	ENSG00000141012	3.1.6.4	"Arylsulfatase family"	4122	protein-coding gene	gene with protein product	"Morquio syndrome", "mucopolysaccharidosis type IVA"	612222	"galactosamine (N-acetyl)-6-sulfate sulfatase"			1755850	Standard	NM_000512		Approved	GAS, GALNAC6S	uc002fly.4	P34059	OTTHUMG00000137862	ENST00000268695.5:c.269G>A	16.37:g.88908355C>T	ENSP00000268695:p.Arg90Gln		Q86VK3	Missense_Mutation	SNP	ENST00000268695.5	37	CCDS10970.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.41|17.41	3.382732|3.382732	0.61845|0.61845	.|.	.|.	ENSG00000141012|ENSG00000141012	ENST00000439266|ENST00000268695	.|D	.|0.98862	.|-5.19	5.24|5.24	5.24|5.24	0.73138|0.73138	.|Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	.|0.048636	.|0.85682	.|D	.|0.000000	D|D	0.98732|0.98732	0.9574|0.9574	L|L	0.52364|0.52364	1.645|1.645	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|0.999;1.0	.|D;D	.|0.97110	.|0.958;1.0	D|D	0.99327|0.99327	1.0908|1.0908	6|10	0.87932|0.40728	D|T	0|0.16	.|.	19.199|19.199	0.93701|0.93701	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|90;90	.|B2R6P1;P34059	.|.;GALNS_HUMAN	S|Q	49|90	.|ENSP00000268695:R90Q	ENSP00000402127:G49S|ENSP00000268695:R90Q	G|R	-|-	1|2	0|0	GALNS|GALNS	87435856|87435856	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.692000|0.692000	0.40212|0.40212	7.578000|7.578000	0.82498|0.82498	2.620000|2.620000	0.88729|0.88729	0.561000|0.561000	0.74099|0.74099	GGC|CGG		0.612	GALNS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269543.1			T	88908355	C	T	88908355	3	4	719	1	0	0	0	0	1	0	0	0	6208	652	23	1	1347	1	GALNS	16	88908355	Missense_Mutation	SNP	C	TCGA-KM-8441-01A-11D-2310-10	13	88908355	1446398	50	40342			1	85		3	2	15	N	TGCGGA_C	2.62298e-05
CCDC144NL	339184	mdanderson.org	37	17	20768730	20768730	+	Nonstop_Mutation	SNP	A	A	G	rs4605228	byFrequency	TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr17:20768730A>G	ENST00000327925.5	-	4	783	c.664T>C	c.(664-666)Taa>Caa	p.*222Q	CCDC144NL_ENST00000539484.1_Splice_Site	NM_001004306.1	NP_001004306.1	Q6NUI1	C144L_HUMAN	coiled-coil domain containing 144 family, N-terminal like	0										large_intestine(3)|lung(3)|skin(1)	7						GTGAATGTTTACCTTACAACA	0.358													N|||	51	0.0101837	0.0333	0.0029	5008	,	,		19241	0.0		0.001	False		,,,				2504	0.0041															0													101	93	96					17																	20768730		2203	4300	6503	SO:0001578	stop_lost	339184				CCDS32591.1	17p11.2	2009-01-15			ENSG00000205212	ENSG00000205212			33735	protein-coding gene	gene with protein product							Standard	NM_001004306		Approved	MGC87631	uc002gyf.3	Q6NUI1	OTTHUMG00000132271	ENST00000327925.5:c.664T>C	17.37:g.20768730A>G	ENSP00000328054:p.*222Gluext*26			Missense_Mutation	SNP	ENST00000327925.5	37	CCDS32591.1	.	.	.	.	.	.	.	.	.	.	N	0.770	-0.766154	0.02974	.	.	ENSG00000205212	ENST00000327925	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs4605228;rs52789726;rs4605228	.	.	.	Q	222	.	.	X	-	1	0	CCDC144NL	20709322	0.038000	0.19896	0.003000	0.11579	0.003000	0.03518	-1.896000	0.01605	-1.871000	0.01138	-1.895000	0.00532	TAA		0.358	CCDC144NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255361.2	NM_001004306		G	20768730	A	G	20768730	4	3	719	1	0	0	0	0	0	0	0	0	2781	404	14	3	5	3	CCDC144NL	17	20768730	Nonstop_Mutation	SNP	A	TCGA-KM-8441-01A-11D-2310-10		20768730	60426480	51	40343											
SPATA20	64847	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	17	48629513	48629513	+	Silent	SNP	G	G	T			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr17:48629513G>T	ENST00000356488.4	+	13	1964	c.1881G>T	c.(1879-1881)ggG>ggT	p.G627G	SPATA20_ENST00000393244.3_Silent_p.G583G|SPATA20_ENST00000006658.6_Silent_p.G643G|SPATA20_ENST00000511937.1_3'UTR	NM_001258372.1	NP_001245301.1	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	627					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)			CTGAGCTGGGGGCTGGCCTGC	0.652																																																0													24	29	27					17																	48629513		2203	4300	6503	SO:0001819	synonymous_variant	64847				CCDS11571.1, CCDS58563.1, CCDS58564.1	17q21.33	2011-03-17			ENSG00000006282	ENSG00000006282			26125	protein-coding gene	gene with protein product	"hypothetical protein FLJ21347"	613939				12477932	Standard	NM_022827		Approved	FLJ21347, SSP411, Tisp78	uc002ird.3	Q8TB22	OTTHUMG00000162162	ENST00000356488.4:c.1881G>T	17.37:g.48629513G>T			Q2TA99|Q2XUZ6|Q6P0P1|Q8WVW3|Q9H747	Silent	SNP	ENST00000356488.4	37	CCDS58563.1																																																																																				0.652	SPATA20-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367651.1	NM_022827		T	48629513	G	T	48629513	2	4	719	1	0	0	0	0	0	0	0	1	15011	1219	43	4		4	SPATA20	17	48629513	Silent	SNP	G	TCGA-KM-8441-01A-11D-2310-10	27860783	48629513	32565697	52	40344											
DCC	1630	broad.mit.edu	37	18	50734080	50734080	+	Missense_Mutation	SNP	T	T	C			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr18:50734080T>C	ENST00000442544.2	+	11	2370	c.1754T>C	c.(1753-1755)cTg>cCg	p.L585P	DCC_ENST00000581580.1_Missense_Mutation_p.L240P|DCC_ENST00000412726.1_Missense_Mutation_p.L433P	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	585	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)		TCTTATAAACTGGAAGGCCTG	0.378																																																0													129	138	135					18																	50734080		2203	4300	6503	SO:0001583	missense	1630			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.1754T>C	18.37:g.50734080T>C	ENSP00000389140:p.Leu585Pro			Missense_Mutation	SNP	ENST00000442544.2	37	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	T	13.22	2.170752	0.38315	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T	0.62639	0.01;0.01	5.83	5.83	0.93111	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.077446	0.51477	D	0.000084	D	0.84566	0.5500	H	0.94542	3.55	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.985	D;D;D	0.76071	0.987;0.987;0.956	D	0.88867	0.3330	10	0.87932	D	0	.	15.1823	0.72968	0.0:0.0:0.0:1.0	.	433;433;585	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	P	585;518;433	ENSP00000389140:L585P;ENSP00000397322:L433P	ENSP00000304146:L518P	L	+	2	0	DCC	48988078	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.587000	0.74071	2.240000	0.73641	0.528000	0.53228	CTG		0.378	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		C	50734080	T	C	50734080	3	2	719	1	0	0	0	0	1	0	0	0	4284	1580	55	3	1796	3	DCC	18	50734080	Missense_Mutation	SNP	T	TCGA-KM-8441-01A-11D-2310-10		50734080	27343168	53	40345											
HNRNPM	4670	ucsc.edu	37	19	8550892	8550892	+	Missense_Mutation	SNP	T	T	C			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr19:8550892T>C	ENST00000325495.4	+	14	1621	c.1580T>C	c.(1579-1581)cTg>cCg	p.L527P	HNRNPM_ENST00000348943.3_Missense_Mutation_p.L488P	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	527	27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].			L -> P (in Ref. 1 and 3). {ECO:0000305}.	alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|RNA binding (GO:0003723)			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						CGCATGGGCCTGAGCATGGAG	0.697																																																0													48	52	51					19																	8550892		2202	4298	6500	SO:0001583	missense	4670			L03532	CCDS12203.1, CCDS12204.1	19p13.2	2013-06-12		2008-04-18	ENSG00000099783	ENSG00000099783		"RNA binding motif (RRM) containing"	5046	protein-coding gene	gene with protein product	"CEA receptor"	160994		NAGR1, HNRPM		8441656, 7558047	Standard	NM_005968		Approved	HTGR1, HNRNPM4, HNRPM4, CEAR	uc010dwe.3	P52272	OTTHUMG00000182383	ENST00000325495.4:c.1580T>C	19.37:g.8550892T>C	ENSP00000325376:p.Leu527Pro		Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Missense_Mutation	SNP	ENST00000325495.4	37	CCDS12203.1	.	.	.	.	.	.	.	.	.	.	T	18.22	3.574642	0.65878	.	.	ENSG00000099783	ENST00000325495;ENST00000348943;ENST00000544159;ENST00000539473	T;T	0.13901	2.55;2.85	5.43	5.43	0.79202	.	0.290726	0.35124	N	0.003425	T	0.19127	0.0459	L	0.28274	0.84	0.58432	D	0.999994	D;D;D;D	0.58620	0.976;0.971;0.983;0.98	P;P;P;B	0.56700	0.656;0.641;0.804;0.445	T	0.03103	-1.1072	10	0.28530	T	0.3	.	14.3119	0.66422	0.0:0.0:0.0:1.0	.	367;527;488;412	Q7KYM9;P52272;P52272-2;Q59ES8	.;HNRPM_HUMAN;.;.	P	527;488;412;84	ENSP00000325376:L527P;ENSP00000325732:L488P	ENSP00000325376:L527P	L	+	2	0	HNRNPM	8456892	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.076000	0.57591	2.053000	0.61076	0.482000	0.46254	CTG		0.697	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1			C	8550892	T	C	8550892	3	2	719	1	0	0	0	0	1	0	0	0	7273	1580	55	3	1634	3	HNRNPM	19	8550892	Missense_Mutation	SNP	T	TCGA-KM-8441-01A-11D-2310-10		8550892	50578091	54	40346											
MUC16	94025	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	9002616	9002616	+	Missense_Mutation	SNP	G	G	T			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr19:9002616G>T	ENST00000397910.4	-	51	40403	c.40200C>A	c.(40198-40200)gaC>gaA	p.D13400E	MUC16_ENST00000380951.5_Missense_Mutation_p.D41E	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13402	SEA 9. {ECO:0000255|PROSITE- ProRule:PRU00188}.				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						GGCTTTTGGGGTCAGGACGAT	0.572																																																0													93	85	87					19																	9002616		2009	4180	6189	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.40200C>A	19.37:g.9002616G>T	ENSP00000381008:p.Asp13400Glu		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	12.50|12.50	1.957435|1.957435	0.34565|0.34565	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000397910;ENST00000380951|ENST00000542240	T;T|.	0.45668|.	0.89;0.89|.	2.75|2.75	-0.779|-0.779	0.10973|0.10973	SEA (1);|.	.|.	.|.	.|.	.|.	T|T	0.16685|0.16685	0.0401|0.0401	N|N	0.14661|0.14661	0.345|0.345	.|.	.|.	.|.	P;D|.	0.56035|.	0.945;0.974|.	P;D|.	0.72075|.	0.476;0.976|.	T|T	0.27331|0.27331	-1.0077|-1.0077	8|4	0.02654|.	T|.	1|.	-2.7307|-2.7307	2.3914|2.3914	0.04379|0.04379	0.2866:0.0:0.4754:0.238|0.2866:0.0:0.4754:0.238	.|.	21045;13400|.	Q8WXI7;B5ME49|.	MUC16_HUMAN;.|.	E|N	13400;41|240	ENSP00000381008:D13400E;ENSP00000370338:D41E|.	ENSP00000370338:D41E|.	D|T	-|-	3|2	2|0	MUC16|MUC16	8863616|8863616	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-1.113000|-1.113000	0.03296|0.03296	-0.070000|-0.070000	0.12908|0.12908	-0.657000|-0.657000	0.03884|0.03884	GAC|ACC		0.572	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9002616	G	T	9002616	3	4	719	1	0	0	0	0	1	0	0	0	9975	1252	44	4	3459	4	MUC16	19	9002616	Missense_Mutation	SNP	G	TCGA-KM-8441-01A-11D-2310-10	451724	9002616	50126367	55	40347											
MUC16	94025	broad.mit.edu	37	19	9066166	9066167	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr19:9066166_9066167insG	ENST00000397910.4	-	3	21482_21483	c.21279_21280insC	c.(21277-21282)cccagcfs	p.S7094fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7096	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						GGGAGAGAGCTGGGATTTTCCA	0.51																																																0																																										SO:0001589	frameshift_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.21280dupC	19.37:g.9066169_9066169dupG	ENSP00000381008:p.Ser7094fs		Q6ZQW5|Q96RK2	Frame_Shift_Ins	INS	ENST00000397910.4	37	CCDS54212.1																																																																																				0.51	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		G	9066167	-	G	9066166	7	5	719	1	0	1	1	0	0	0	0	0	9975	1580	55	0	22571	0	MUC16	19	9066166	Frame_Shift_Ins	INS	-	TCGA-KM-8441-01A-11D-2310-10	63550	9066166	50062817	56	40348											
ZNF440	126070	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	19	11942848	11942848	+	Missense_Mutation	SNP	G	G	A	rs373425213		TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr19:11942848G>A	ENST00000304060.5	+	4	1021	c.857G>A	c.(856-858)tGt>tAt	p.C286Y		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	286					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GCTTATCAATGTAAGGAATGT	0.408																																																0													100	101	100					19																	11942848		2201	4299	6500	SO:0001583	missense	126070			AK095252	CCDS42503.1	19p13.13	2013-01-08	2006-08-14	2006-08-14	ENSG00000171295	ENSG00000171295		"Zinc fingers, C2H2-type", "-"	20874	protein-coding gene	gene with protein product							Standard	NM_152357		Approved	FLJ37933	uc002msp.1	Q8IYI8	OTTHUMG00000156403	ENST00000304060.5:c.857G>A	19.37:g.11942848G>A	ENSP00000305373:p.Cys286Tyr		Q8N1R9	Missense_Mutation	SNP	ENST00000304060.5	37	CCDS42503.1	.	.	.	.	.	.	.	.	.	.	g	14.74	2.624803	0.46840	.	.	ENSG00000171295	ENST00000304060	D	0.85088	-1.94	1.04	1.04	0.20106	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.92443	0.7601	M	0.91612	3.225	0.36272	D	0.855235	D	0.89917	1.0	D	0.91635	0.999	D	0.93193	0.6585	9	0.87932	D	0	.	9.6088	0.39650	0.0:0.0:1.0:0.0	.	286	Q8IYI8	ZN440_HUMAN	Y	286	ENSP00000305373:C286Y	ENSP00000305373:C286Y	C	+	2	0	ZNF440	11803848	1.000000	0.71417	0.010000	0.14722	0.019000	0.09904	7.104000	0.77024	0.865000	0.35603	0.205000	0.17691	TGT		0.408	ZNF440-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344508.1	NM_152357		A	11942848	G	A	11942848	3	1	719	1	0	0	0	0	1	0	0	0	17918	1377	48	2	871	2	ZNF440	19	11942848	Missense_Mutation	SNP	G	TCGA-KM-8441-01A-11D-2310-10	2876682	11942848	47186135	57	40349											
SIGLEC12	89858	hgsc.bcm.edu	37	19	52004795	52004796	+	Frame_Shift_Ins	INS	-	-	T	rs61742108|rs371016684	byFrequency	TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr19:52004795_52004796insT	ENST00000291707.3	-	1	247_248	c.192_193insA	c.(190-195)ttccggfs	p.R65fs	SIGLEC12_ENST00000598614.1_5'Flank	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	65	Ig-like V-type 1.				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)		TCCCCTGCCCGGAACCAGTAGC	0.599																																																0										2425,1839		698,1029,405						-4.6	0		dbSNP_130	75	5278,2976		1674,1930,523	no	frameshift	SIGLEC12	NM_053003.2		2372,2959,928	A1A1,A1R,RR		36.0552,43.1285,38.4646				7703,4815				SO:0001589	frameshift_variant	89858			AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15482	protein-coding gene	gene with protein product		606094	"SIGLEC-like 1", "sialic acid binding Ig-like lectin 12"	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.192_193insA	19.37:g.52004795_52004796insT	ENSP00000291707:p.Arg65fs		Q8IYH7	Frame_Shift_Ins	INS	ENST00000291707.3	37	CCDS12833.1																																																																																				0.599	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384641.2	NM_053003		T	52004796	-	T	52004795	7	5	719	1	0	1	1	0	0	0	0	0	14314	1115	39	0	1699	0	SIGLEC12	19	52004795	Frame_Shift_Ins	INS	-	TCGA-KM-8441-01A-11D-2310-10	40061947	52004795	7124188	58	40350											
TGM6	343641	ucsc.edu	37	20	2381066	2381066	+	Missense_Mutation	SNP	A	A	G			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr20:2381066A>G	ENST00000202625.2	+	7	1026	c.965A>G	c.(964-966)gAg>gGg	p.E322G	TGM6_ENST00000477505.1_3'UTR|TGM6_ENST00000381423.1_Missense_Mutation_p.E322G	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	322					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)	CGGACCCTGGAGGACCTGACA	0.602																																																0													99	87	91					20																	2381066		2203	4300	6503	SO:0001583	missense	343641			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.965A>G	20.37:g.2381066A>G	ENSP00000202625:p.Glu322Gly		Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Missense_Mutation	SNP	ENST00000202625.2	37	CCDS13025.1	.	.	.	.	.	.	.	.	.	.	A	16.89	3.247643	0.59103	.	.	ENSG00000166948	ENST00000202625;ENST00000381423	D;D	0.95412	-3.7;-3.7	4.27	4.27	0.50696	Transglutaminase-like (2);	0.000000	0.52532	D	0.000080	D	0.90177	0.6930	L	0.33093	0.98	0.36318	D	0.858098	P;P	0.37781	0.554;0.608	B;B	0.37047	0.231;0.24	D	0.89656	0.3873	10	0.36615	T	0.2	-36.2913	6.5194	0.22266	0.892:0.0:0.108:0.0	.	322;322	O95932-2;O95932	.;TGM3L_HUMAN	G	322	ENSP00000202625:E322G;ENSP00000370831:E322G	ENSP00000202625:E322G	E	+	2	0	TGM6	2329066	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.803000	0.62546	1.939000	0.56221	0.379000	0.24179	GAG		0.602	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994		G	2381066	A	G	2381066	3	3	719	1	0	0	0	0	1	0	0	0	15839	304	11	3	991	3	TGM6	20	2381066	Missense_Mutation	SNP	A	TCGA-KM-8441-01A-11D-2310-10		2381066	60644454	59	40351											
SFI1	9814	ucsc.edu	37	22	32009705	32009705	+	Missense_Mutation	SNP	A	A	G			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr22:32009705A>G	ENST00000400288.2	+	27	2965	c.2860A>G	c.(2860-2862)Acg>Gcg	p.T954A	SFI1_ENST00000540643.1_Missense_Mutation_p.T899A|SFI1_ENST00000432498.1_Missense_Mutation_p.T923A|SFI1_ENST00000443326.1_Missense_Mutation_p.T872A|SFI1_ENST00000400289.1_Missense_Mutation_p.T872A|SFI1_ENST00000443011.1_Missense_Mutation_p.T801A|SFI1_ENST00000414585.1_Missense_Mutation_p.T801A	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	954					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						CAGGAAAGTGACGTTTGAGGG	0.657											OREG0003527	type=REGULATORY REGION|Gene=SFI1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																				0													25	29	28					22																	32009705		2014	4170	6184	SO:0001583	missense	9814			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.2860A>G	22.37:g.32009705A>G	ENSP00000383145:p.Thr954Ala	829	A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Missense_Mutation	SNP	ENST00000400288.2	37	CCDS43004.1	.	.	.	.	.	.	.	.	.	.	A	15.54	2.865159	0.51482	.	.	ENSG00000198089	ENST00000432498;ENST00000540643;ENST00000443326;ENST00000421060;ENST00000414585;ENST00000443011;ENST00000400289;ENST00000400288;ENST00000417682	T;T;T;T;T;T;T;T	0.16897	2.9;2.9;2.75;2.73;2.75;2.75;2.9;2.31	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.13415	0.0325	N	0.08118	0	0.41984	D	0.990818	P;P;B;P;B	0.45044	0.849;0.837;0.143;0.72;0.231	P;B;B;P;B	0.47251	0.542;0.265;0.075;0.456;0.183	T	0.11567	-1.0582	10	0.72032	D	0.01	.	12.5779	0.56373	1.0:0.0:0.0:0.0	.	899;860;872;923;954	A8K8P3-9;A8K8P3-10;A8K8P3-3;A8K8P3-2;A8K8P3	.;.;.;.;SFI1_HUMAN	A	923;899;872;703;801;801;872;954;537	ENSP00000402679:T923A;ENSP00000443025:T899A;ENSP00000416469:T872A;ENSP00000397148:T801A;ENSP00000401199:T801A;ENSP00000383146:T872A;ENSP00000383145:T954A;ENSP00000398871:T537A	ENSP00000383145:T954A	T	+	1	0	SFI1	30339705	1.000000	0.71417	0.993000	0.49108	0.022000	0.10575	2.412000	0.44609	1.916000	0.55485	0.379000	0.24179	ACG		0.657	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337180.3	NM_014775		G	32009705	A	G	32009705	3	3	719	1	0	0	0	0	1	0	0	0	14162	275	10	3	2962	3	SFI1	22	32009705	Missense_Mutation	SNP	A	TCGA-KM-8441-01A-11D-2310-10		32009705	19294861	60	40352											
TKTL1	8277	broad.mit.edu;mdanderson.org;bcgsc.ca	37	X	153556232	153556232	+	Missense_Mutation	SNP	G	G	A			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chrX:153556232G>A	ENST00000369915.3	+	12	1735	c.1546G>A	c.(1546-1548)Gtc>Atc	p.V516I	TKTL1_ENST00000369912.2_Missense_Mutation_p.V460I|TKTL1_ENST00000482044.1_3'UTR|TKTL1_ENST00000217905.7_Missense_Mutation_p.V256I	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	516					glucose catabolic process (GO:0006007)|thiamine metabolic process (GO:0006772)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACCTCTGGATGTCGCCACCAT	0.473																																																0													214	188	197					X																	153556232		2203	4300	6503	SO:0001583	missense	8277			X91817	CCDS35448.1, CCDS55541.1	Xq28	2008-02-05			ENSG00000007350	ENSG00000007350			11835	protein-coding gene	gene with protein product		300044				8838793	Standard	NM_012253		Approved	TKR, TKT2	uc004fkg.3	P51854	OTTHUMG00000022707	ENST00000369915.3:c.1546G>A	X.37:g.153556232G>A	ENSP00000358931:p.Val516Ile		A8K896|Q5TYJ8|Q5TYJ9|Q8TC75	Missense_Mutation	SNP	ENST00000369915.3	37	CCDS35448.1	.	.	.	.	.	.	.	.	.	.	G	5.168	0.216538	0.09810	.	.	ENSG00000007350	ENST00000369915;ENST00000441970;ENST00000217905;ENST00000369912	D;D;D	0.90676	-2.71;-2.71;-2.71	4.66	-4.45	0.03546	Transketolase, C-terminal (1);Transketolase, C-terminal/Pyruvate-ferredoxin oxidoreductase, domain II (1);Transketolase-like, C-terminal (1);	1.215660	0.06075	N	0.660761	T	0.78541	0.4299	N	0.16567	0.415	0.09310	N	1	B;B;B	0.17465	0.022;0.009;0.009	B;B;B	0.18263	0.021;0.014;0.014	T	0.62426	-0.6857	10	0.40728	T	0.16	0.082	1.7163	0.02902	0.3163:0.1073:0.379:0.1974	.	256;510;516	B7Z7M4;B7Z7I0;P51854	.;.;TKTL1_HUMAN	I	516;477;256;460	ENSP00000358931:V516I;ENSP00000217905:V256I;ENSP00000358928:V460I	ENSP00000217905:V256I	V	+	1	0	TKTL1	153209426	0.000000	0.05858	0.002000	0.10522	0.015000	0.08874	-0.398000	0.07259	-0.970000	0.03569	0.436000	0.28706	GTC		0.473	TKTL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058923.1	NM_012253		A	153556232	G	A	153556232	3	1	719	1	0	0	0	0	1	0	0	0	15940	1377	48	2	1592	2	TKTL1	23	153556232	Missense_Mutation	SNP	G	TCGA-KM-8441-01A-11D-2310-10		153556232	1714328	61	40353											
MORN1	79906	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	1	2268198	2268198	+	Silent	SNP	C	C	T			TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr1:2268198C>T	ENST00000378531.3	-	11	1301	c.1128G>A	c.(1126-1128)ccG>ccA	p.P376P	MORN1_ENST00000606372.1_5'UTR	NM_024848.1	NP_079124.1	Q5T089	MORN1_HUMAN	MORN repeat containing 1	376										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		GGTACCCAGGCGGGGGCGGCC	0.682																																																0													20	22	21					1																	2268198		2196	4295	6491	SO:0001819	synonymous_variant	79906			AK024003	CCDS40.1, CCDS72688.1	1p36.33-p36.32	2008-02-05			ENSG00000116151	ENSG00000116151			25852	protein-coding gene	gene with protein product						12477932	Standard	XM_005244798		Approved	FLJ13941	uc001ajb.1	Q5T089	OTTHUMG00000001402	ENST00000378531.3:c.1128G>A	1.37:g.2268198C>T			A6NKZ6|Q8WW30|Q9H852	Silent	SNP	ENST00000378531.3	37	CCDS40.1																																																																																				0.682	MORN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004055.1	NM_024848		T	2268198	C	T	2268198	2	4	720	1	0	0	0	0	0	0	0	1	9710	755	27	1		1	MORN1	1	2268198	Silent	SNP	C	TCGA-KM-8442-01A-11D-2310-10		2268198	246982423	1	40354											
FAM131C	348487	mdanderson.org	37	1	16388642	16388642	+	Missense_Mutation	SNP	G	G	A	rs79991837	byFrequency	TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr1:16388642G>A	ENST00000375662.4	-	4	403	c.220C>T	c.(220-222)Cgc>Tgc	p.R74C	FAM131C_ENST00000494078.1_5'UTR	NM_182623.2	NP_872429.2	Q96AQ9	F131C_HUMAN	family with sequence similarity 131, member C	74										large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		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;8.32e-08)|COAD - Colon adenocarcinoma(227;5.56e-06)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		TTGCCGGGGCGGGATCTGGAG	0.657													G|||	33	0.00658946	0.0189	0.0072	5008	,	,		15581	0.0		0.0	False		,,,				2504	0.0031															0													77	78	78					1																	16388642		2054	4180	6234	SO:0001583	missense	348487				CCDS41270.1	1p36.13	2008-02-05	2007-03-20	2007-03-20	ENSG00000185519	ENSG00000185519			26717	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 117"	C1orf117		12477932	Standard	NM_182623		Approved	FLJ36766	uc001axz.4	Q96AQ9	OTTHUMG00000009525	ENST00000375662.4:c.220C>T	1.37:g.16388642G>A	ENSP00000364814:p.Arg74Cys		Q5T5Q5|Q8N3X3|Q8N9P9	Missense_Mutation	SNP	ENST00000375662.4	37	CCDS41270.1	.	.	.	.	.	.	.	.	.	.	G	1.551	-0.539233	0.04053	.	.	ENSG00000185519	ENST00000375662	T	0.22336	1.96	4.64	2.3	0.28687	.	0.351936	0.26571	N	0.023632	T	0.04137	0.0115	N	0.00146	-1.995	0.28188	N	0.927865	B	0.02656	0.0	B	0.01281	0.0	T	0.31641	-0.9936	10	0.48119	T	0.1	-23.3619	6.0703	0.19885	0.7858:0.0:0.2142:0.0	.	74	Q96AQ9	F131C_HUMAN	C	74	ENSP00000364814:R74C	ENSP00000364814:R74C	R	-	1	0	FAM131C	16261229	0.996000	0.38824	0.987000	0.45799	0.549000	0.35272	1.524000	0.35942	0.186000	0.20125	-0.487000	0.04747	CGC		0.657	FAM131C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026319.1	NM_182623		A	16388642	G	A	16388642	3	1	720	1	0	0	0	0	1	0	0	0	5443	1116	39	1	638	1	FAM131C	1	16388642	Missense_Mutation	SNP	G	TCGA-KM-8442-01A-11D-2310-10	14120444	16388642	232861979	2	40355											
CYP4Z1	199974	mdanderson.org	37	1	47548113	47548113	+	Missense_Mutation	SNP	G	G	A	rs200076743		TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr1:47548113G>A	ENST00000334194.3	+	4	475	c.472G>A	c.(472-474)Gag>Aag	p.E158K		NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	158						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						CATGATGTCTGAGAGTGTTCG	0.478																																																0													91	82	85					1																	47548113		2203	4300	6503	SO:0001583	missense	199974			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.472G>A	1.37:g.47548113G>A	ENSP00000334246:p.Glu158Lys		Q5VVE4	Missense_Mutation	SNP	ENST00000334194.3	37	CCDS545.1	.	.	.	.	.	.	.	.	.	.	-	9.782	1.175656	0.21704	.	.	ENSG00000186160	ENST00000334194	T	0.70631	-0.5	2.4	-4.81	0.03180	.	0.343662	0.18958	U	0.126486	T	0.47563	0.1452	N	0.17764	0.52	0.09310	N	1	B	0.28470	0.213	B	0.28784	0.094	T	0.32981	-0.9886	10	0.25751	T	0.34	.	10.5223	0.44927	0.0:0.2112:0.6769:0.1119	.	158	Q86W10	CP4Z1_HUMAN	K	158	ENSP00000334246:E158K	ENSP00000334246:E158K	E	+	1	0	CYP4Z1	47320700	0.001000	0.12720	0.000000	0.03702	0.089000	0.18198	0.708000	0.25719	-1.026000	0.03330	-0.673000	0.03796	GAG		0.478	CYP4Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022020.1	NM_178134		A	47548113	G	A	47548113	3	1	720	1	0	0	0	0	1	0	0	0	4196	1291	45	2	486	2	CYP4Z1	1	47548113	Missense_Mutation	SNP	G	TCGA-KM-8442-01A-11D-2310-10	31159471	47548113	201702508	3	40356											
FLG	2312	mdanderson.org	37	1	152278689	152278689	+	Silent	SNP	C	C	A	rs57672167	byFrequency	TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr1:152278689C>A	ENST00000368799.1	-	3	8708	c.8673G>T	c.(8671-8673)gtG>gtT	p.V2891V	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2891	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)			TGTCCTGGCTCACACTGGATC	0.552									Ichthyosis				A|||	1985	0.396366	0.3147	0.4337	5008	,	,		31121	0.6101		0.171	False		,,,				2504	0.4918															0								A		847,3219		243,361,1429	85	137	120		8673	-5.2	0	1	dbSNP_129	120	1434,7156		126,1182,2987	no	coding-synonymous	FLG	NM_002016.1		369,1543,4416	AA,AC,CC		16.6938,20.8313,18.0231		2891/4062	152278689	2281,10375	2033	4295	6328	SO:0001819	synonymous_variant	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.8673G>T	1.37:g.152278689C>A			Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	CCDS30860.1																																																																																				0.552	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		A	152278689	C	A	152278689	2	1	720	1	0	0	0	0	0	0	0	1	5924	813	29	4		4	FLG	1	152278689	Silent	SNP	C	TCGA-KM-8442-01A-11D-2310-10	104730576	152278689	96971932	4	40357											
FLG	2312	mdanderson.org	37	1	152278814	152278814	+	Missense_Mutation	SNP	C	C	T	rs2184952	byFrequency	TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr1:152278814C>T	ENST00000368799.1	-	3	8583	c.8548G>A	c.(8548-8550)Ggc>Agc	p.G2850S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2850	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)			TGCCTGGAGCCGTCTCCTGAT	0.572									Ichthyosis																																							0								C	SER/GLY	329,3957	110.8+/-149.0	6,317,1820	409	615	546		8548	-3.9	0	1	dbSNP_96	546	448,8152	117.0+/-176.6	0,448,3852	no	missense	FLG	NM_002016.1	56	6,765,5672	TT,TC,CC		5.2093,7.6762,6.0298	benign	2850/4062	152278814	777,12109	2143	4300	6443	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.8548G>A	1.37:g.152278814C>T	ENSP00000357789:p.Gly2850Ser		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.837373	0.32513	0.076762	0.052093	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.00824	5.65	3.42	-3.91	0.04168	.	.	.	.	.	T	0.00384	0.0012	M	0.63843	1.955	0.09310	N	1	B	0.28760	0.221	B	0.30855	0.121	T	0.33189	-0.9878	9	0.14656	T	0.56	-0.2526	8.0549	0.30600	0.0:0.2837:0.0:0.7163	.	2850	P20930	FILA_HUMAN	S	2850;112	ENSP00000357789:G2850S	ENSP00000357786:G112S	G	-	1	0	FLG	150545438	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.534000	0.00941	-0.915000	0.03823	0.306000	0.20318	GGC		0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		T	152278814	C	T	152278814	3	4	720	1	0	0	0	0	1	0	0	0	5924	652	23	1	3641	1	FLG	1	152278814	Missense_Mutation	SNP	C	TCGA-KM-8442-01A-11D-2310-10	125	152278814	96971807	5	40358											
SNAPIN	23557	broad.mit.edu;hgsc.bcm.edu	37	1	153631301	153631301	+	Frame_Shift_Del	DEL	G	G	-	rs35903030		TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr1:153631301delG	ENST00000368685.5	+	1	172	c.82delG	c.(82-84)gggfs	p.G28fs	SNAPIN_ENST00000478558.1_3'UTR	NM_012437.5	NP_036569.1	O95295	SNAPN_HUMAN	SNAP-associated protein	28					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)			TTTCGCCGAAGGGCTGCTGGA	0.692																																																0													10	13	12					1																	153631301		2167	4240	6407	SO:0001589	frameshift_variant	23557			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.82delG	1.37:g.153631301delG	ENSP00000357674:p.Gly28fs		D3DV56|Q5SXU8	Frame_Shift_Del	DEL	ENST00000368685.5	37	CCDS1049.1																																																																																				0.692	SNAPIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090036.1	NM_012437		-	153631301	G	-	153631301	7	5	720	1	0	1	0	1	0	0	0	0	14845	1000	35	0	84	0	SNAPIN	1	153631301	Frame_Shift_Del	DEL	G	TCGA-KM-8442-01A-11D-2310-10	1352487	153631301	95619320	6	40359	353	2									
SNAPIN	23557	bcgsc.ca	37	1	153631302	153631302	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr1:153631302delG	ENST00000368685.5	+	1	173	c.83delG	c.(82-84)gggfs	p.G28fs	SNAPIN_ENST00000478558.1_3'UTR	NM_012437.5	NP_036569.1	O95295	SNAPN_HUMAN	SNAP-associated protein	28					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)			TTCGCCGAAGGGCTGCTGGAG	0.692																																																0													10	13	12					1																	153631302		2167	4241	6408	SO:0001589	frameshift_variant	23557			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.83delG	1.37:g.153631302delG	ENSP00000357674:p.Gly28fs		D3DV56|Q5SXU8	Frame_Shift_Del	DEL	ENST00000368685.5	37	CCDS1049.1																																																																																				0.692	SNAPIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090036.1	NM_012437		-	153631302	G	-	153631302	7	5	720	1	0	1	0	1	0	0	0	0	14845	1232	43	0	85	0	SNAPIN	1	153631302	Frame_Shift_Del	DEL	G	TCGA-KM-8442-01A-11D-2310-10	1	153631302	95619319	7	40360	353	2									
CD5L	922	broad.mit.edu;mdanderson.org	37	1	157805633	157805633	+	Missense_Mutation	SNP	G	G	A	rs545632901		TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr1:157805633G>A	ENST00000368174.4	-	3	464	c.368C>T	c.(367-369)tCg>tTg	p.S123L	CD5L_ENST00000484609.1_5'Flank	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	123	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			ACTCTCACACGATGCCCCAGC	0.502													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19102	0.0		0.0	False		,,,				2504	0.0															0													112	113	113					1																	157805633		2203	4300	6503	SO:0001583	missense	922			U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"apoptosis inhibitor 6", "CD5 antigen-like (scavenger receptor cysteine rich family)"	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.368C>T	1.37:g.157805633G>A	ENSP00000357156:p.Ser123Leu		A8K7M5|Q6UX63	Missense_Mutation	SNP	ENST00000368174.4	37	CCDS1171.1	.	.	.	.	.	.	.	.	.	.	G	7.764	0.705961	0.15172	.	.	ENSG00000073754	ENST00000368174	T	0.34472	1.36	4.68	-9.36	0.00629	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	4.788200	0.00508	N	0.000173	T	0.03348	0.0097	N	0.04686	-0.185	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.10451	-1.0629	10	0.19590	T	0.45	.	2.6374	0.04961	0.4919:0.0815:0.173:0.2536	.	123	O43866	CD5L_HUMAN	L	123	ENSP00000357156:S123L	ENSP00000357156:S123L	S	-	2	0	CD5L	156072257	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-3.877000	0.00344	-2.411000	0.00571	-2.010000	0.00438	TCG		0.502	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1	NM_005894		A	157805633	G	A	157805633	3	1	720	1	0	0	0	0	1	0	0	0	3029	1059	37	1	691	1	CD5L	1	157805633	Missense_Mutation	SNP	G	TCGA-KM-8442-01A-11D-2310-10	4174331	157805633	91444988	8	40361											
PPP1R15B	84919	broad.mit.edu	37	1	204379294	204379294	+	Missense_Mutation	SNP	A	A	G			TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr1:204379294A>G	ENST00000367188.4	-	1	1625	c.1246T>C	c.(1246-1248)Tct>Cct	p.S416P	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	416					ER overload response (GO:0006983)|regulation of translation (GO:0006417)|response to hydrogen peroxide (GO:0042542)	protein phosphatase type 1 complex (GO:0000164)	protein serine/threonine phosphatase activity (GO:0004722)			breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			GGTCTGGCAGAAATGGGAAGG	0.458																																																0													75	76	76					1																	204379294		2203	4300	6503	SO:0001583	missense	84919			AK027650	CCDS1445.1	1q32.1	2012-04-17	2011-10-04		ENSG00000158615	ENSG00000158615		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14951	protein-coding gene	gene with protein product		613257	"protein phosphatase 1, regulatory (inhibitor) subunit 15B"			11948623	Standard	XM_005245551		Approved	FLJ14744	uc001hav.4	Q5SWA1	OTTHUMG00000036105	ENST00000367188.4:c.1246T>C	1.37:g.204379294A>G	ENSP00000356156:p.Ser416Pro		Q53GQ4|Q658M2|Q6P156|Q96SN1	Missense_Mutation	SNP	ENST00000367188.4	37	CCDS1445.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.555518	0.86231	.	.	ENSG00000158615	ENST00000367188;ENST00000543650	T	0.29397	1.57	4.8	2.18	0.27775	Protein phosphatase 1, regulatory subunit 15A/B, C-terminal (1);	0.559998	0.18639	N	0.135345	T	0.46347	0.1388	M	0.70595	2.14	0.09310	N	1	D	0.53462	0.96	P	0.57776	0.827	T	0.29119	-1.0022	10	0.56958	D	0.05	-8.9052	10.7169	0.46017	0.5569:0.4431:0.0:0.0	.	416	Q5SWA1	PR15B_HUMAN	P	416;326	ENSP00000356156:S416P	ENSP00000356156:S416P	S	-	1	0	PPP1R15B	202645917	0.008000	0.16893	0.043000	0.18650	0.742000	0.42306	0.674000	0.25218	0.743000	0.32719	0.533000	0.62120	TCT		0.458	PPP1R15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087974.1	NM_032833		G	204379294	A	G	204379294	3	3	720	1	0	0	0	0	1	0	0	0	12369	246	9	3	903	3	PPP1R15B	1	204379294	Missense_Mutation	SNP	A	TCGA-KM-8442-01A-11D-2310-10	46573661	204379294	44871327	9	40362											
ELMOD3	84173	ucsc.edu	37	2	85604502	85604502	+	Missense_Mutation	SNP	T	T	C			TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr2:85604502T>C	ENST00000409890.2	+	11	1310	c.643T>C	c.(643-645)Ttc>Ctc	p.F215L	ELMOD3_ENST00000490508.1_3'UTR|ELMOD3_ENST00000393852.4_Missense_Mutation_p.F215L|ELMOD3_ENST00000428955.2_Missense_Mutation_p.F215L|ELMOD3_ENST00000315658.7_Missense_Mutation_p.F215L|ELMOD3_ENST00000409344.3_Missense_Mutation_p.F215L|ELMOD3_ENST00000409013.3_Missense_Mutation_p.F215L			Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3	215	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						AGGCGCAGGCTTCCTTGCCCT	0.582																																																0													102	80	88					2																	85604502		2203	4300	6503	SO:0001583	missense	84173			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.643T>C	2.37:g.85604502T>C	ENSP00000386304:p.Phe215Leu		B8ZZD6|D6W5K4|Q2M1K3|Q2XSU3|Q2XSU4|Q8NAC1|Q8TCK4|Q8WV70|Q8WY75|Q9H6Q8	Missense_Mutation	SNP	ENST00000409890.2	37	CCDS46352.1	.	.	.	.	.	.	.	.	.	.	T	19.81	3.895893	0.72639	.	.	ENSG00000115459	ENST00000409013;ENST00000409890;ENST00000409344;ENST00000393852;ENST00000428955;ENST00000315658	T;T;T;T;T;T	0.26223	1.75;1.75;1.75;1.75;1.75;1.75	5.76	5.76	0.90799	Engulfment/cell motility, ELMO (2);	0.051461	0.85682	D	0.000000	T	0.18130	0.0435	N	0.20483	0.58	0.47214	D	0.999357	P;B	0.40619	0.724;0.143	B;B	0.43155	0.41;0.134	T	0.07693	-1.0759	10	0.23302	T	0.38	-32.5968	8.55	0.33447	0.0:0.0852:0.0:0.9148	.	215;215	Q96FG2-6;Q96FG2	.;ELMD3_HUMAN	L	215	ENSP00000387139:F215L;ENSP00000386304:F215L;ENSP00000386248:F215L;ENSP00000377434:F215L;ENSP00000412692:F215L;ENSP00000318264:F215L	ENSP00000318264:F215L	F	+	1	0	ELMOD3	85458013	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.129000	0.57957	2.207000	0.71202	0.533000	0.62120	TTC		0.582	ELMOD3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329124.1	NM_032213		C	85604502	T	C	85604502	3	2	720	1	0	0	0	0	1	0	0	0	5072	1609	56	3	673	3	ELMOD3	2	85604502	Missense_Mutation	SNP	T	TCGA-KM-8442-01A-11D-2310-10		85604502	157594871	10	40363											
KDM3A	55818	ucsc.edu;mdanderson.org	37	2	86693720	86693720	+	Silent	SNP	T	T	G			TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr2:86693720T>G	ENST00000409556.1	+	11	1598	c.1233T>G	c.(1231-1233)acT>acG	p.T411T	KDM3A_ENST00000312912.5_Silent_p.T411T|KDM3A_ENST00000542128.1_Silent_p.T359T|KDM3A_ENST00000409064.1_Silent_p.T411T			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	411					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						AAGCATTGACTGGCCTTCCTA	0.453																																					NSCLC(96;1150 1523 6936 46253 49736)											0													161	148	152					2																	86693720		2203	4300	6503	SO:0001819	synonymous_variant	55818			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.1233T>G	2.37:g.86693720T>G			D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Silent	SNP	ENST00000409556.1	37	CCDS1990.1																																																																																				0.453	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252522.2	NM_018433		G	86693720	T	G	86693720	2	3	720	1	0	0	0	0	0	0	0	1	8128	1567	55	5		5	KDM3A	2	86693720	Silent	SNP	T	TCGA-KM-8442-01A-11D-2310-10	1089218	86693720	156505653	11	40364											
RGPD2	729857	mdanderson.org	37	2	88125234	88125234	+	Silent	SNP	T	T	C	rs550032815	byFrequency	TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr2:88125234T>C	ENST00000398146.3	-	1	237	c.15A>G	c.(13-15)aaA>aaG	p.K5K	RGPD2_ENST00000420840.2_Intron|RGPD2_ENST00000327544.6_5'UTR			P0DJD1	RGPD2_HUMAN	RANBP2-like and GRIP domain containing 2	5					protein targeting to Golgi (GO:0000042)					breast(1)|pancreas(1)	2						CCCCGTAGGCTTTGCTGCGCC	0.667													.|||	4	0.000798722	0.0	0.0	5008	,	,		10105	0.0		0.002	False		,,,				2504	0.002															0													36	56	50					2																	88125234		692	1591	2283	SO:0001819	synonymous_variant	729857				CCDS42710.1, CCDS42710.2	2p11.2	2013-01-10			ENSG00000185304	ENSG00000185304		"Tetratricopeptide (TTC) repeat domain containing"	32415	protein-coding gene	gene with protein product		612705				15710750, 15815621	Standard	NM_001078170		Approved	RGP2, RANBP2L2		P0DJD1	OTTHUMG00000153276	ENST00000398146.3:c.15A>G	2.37:g.88125234T>C			P0C839|Q68DN6|Q6V1X0	Silent	SNP	ENST00000398146.3	37	CCDS42710.2																																																																																				0.667	RGPD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330534.2	NM_001078170		C	88125234	T	C	88125234	2	2	720	1	0	0	0	0	0	0	0	1	13292	1606	56	3		3	RGPD2	2	88125234	Silent	SNP	T	TCGA-KM-8442-01A-11D-2310-10	1431514	88125234	155074139	12	40365											
SNRNP200	23020	broad.mit.edu;bcgsc.ca	37	2	96953605	96953605	+	Missense_Mutation	SNP	G	G	A			TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr2:96953605G>A	ENST00000323853.5	-	25	3438	c.3361C>T	c.(3361-3363)Cgc>Tgc	p.R1121C	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1121	SEC63 1.				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						CCTTACATGCGTTTGTCGATC	0.547																																																0													163	140	148					2																	96953605		2203	4300	6503	SO:0001583	missense	23020			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.3361C>T	2.37:g.96953605G>A	ENSP00000317123:p.Arg1121Cys		O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	ENST00000323853.5	37	CCDS2020.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.192973	0.78902	.	.	ENSG00000144028	ENST00000323853	T	0.65732	-0.17	5.3	5.3	0.74995	Sec63 domain (3);	0.000000	0.85682	D	0.000000	D	0.85155	0.5632	H	0.96861	3.895	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.88996	0.3418	10	0.87932	D	0	.	12.8995	0.58117	0.0:0.0:0.8373:0.1627	.	1121	O75643	U520_HUMAN	C	1121	ENSP00000317123:R1121C	ENSP00000317123:R1121C	R	-	1	0	SNRNP200	96317332	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	3.817000	0.55668	2.755000	0.94549	0.561000	0.74099	CGC		0.547	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014		A	96953605	G	A	96953605	3	1	720	1	0	0	0	0	1	0	0	0	14858	1145	40	1	3133	1	SNRNP200	2	96953605	Missense_Mutation	SNP	G	TCGA-KM-8442-01A-11D-2310-10	8828371	96953605	146245768	13	40366											
POTEE	445582	mdanderson.org	37	2	132021629	132021629	+	Missense_Mutation	SNP	G	G	T	rs7424029		TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr2:132021629G>T	ENST00000356920.5	+	15	2695	c.2601G>T	c.(2599-2601)gaG>gaT	p.E867D	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	867	Actin-like.				retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											CCATCTATGAGGGGAATGCCC	0.617																																																0													33	34	34					2																	132021629		2168	4216	6384	SO:0001583	missense	445582			AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33895	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 2"	608914	"ANKRD26-like family C, member 1A"	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.2601G>T	2.37:g.132021629G>T	ENSP00000439189:p.Glu867Asp		Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	7.447	0.641908	0.14451	.	.	ENSG00000188219	ENST00000356920	D	0.94497	-3.44	.	.	.	.	.	.	.	.	D	0.91764	0.7395	M	0.79805	2.47	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	D	0.84711	0.0734	8	0.48119	T	0.1	.	2.6649	0.05041	0.4877:0.0:0.5123:0.0	rs7424029	867	Q6S8J3	POTEE_HUMAN	D	867	ENSP00000439189:E867D	ENSP00000439189:E867D	E	+	3	2	AC131180.1	131738099	1.000000	0.71417	0.130000	0.21974	0.132000	0.20833	2.624000	0.46444	0.119000	0.18210	0.121000	0.15741	GAG		0.617	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		T	132021629	G	T	132021629	3	4	720	1	0	0	0	0	1	0	0	0	12266	991	35	4	2659	4	POTEE	2	132021629	Missense_Mutation	SNP	G	TCGA-KM-8442-01A-11D-2310-10	35068024	132021629	111177744	14	40367											
SPEG	10290	mdanderson.org	37	2	220350135	220350135	+	Silent	SNP	G	G	T			TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr2:220350135G>T	ENST00000312358.7	+	31	7809	c.7677G>T	c.(7675-7677)tcG>tcT	p.S2559S	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2559					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)		AGGGGTTATCGCCACCAAACC	0.617																																																0													56	63	61					2																	220350135		2123	4220	6343	SO:0001819	synonymous_variant	10290			BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"Immunoglobulin superfamily / I-set domain containing"	16901	protein-coding gene	gene with protein product		615950	"aortic preferentially expressed gene 1"	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.7677G>T	2.37:g.220350135G>T			A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	ENST00000312358.7	37	CCDS42824.1																																																																																				0.617	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		T	220350135	G	T	220350135	2	4	720	1	0	0	0	0	0	0	0	1	15041	1074	38	4		4	SPEG	2	220350135	Silent	SNP	G	TCGA-KM-8442-01A-11D-2310-10	88328506	220350135	22849238	15	40368											
PRR21	643905	mdanderson.org	37	2	240982080	240982080	+	Missense_Mutation	SNP	C	C	G	rs143810849	byFrequency	TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr2:240982080C>G	ENST00000408934.1	-	1	319	c.320G>C	c.(319-321)cGt>cCt	p.R107P		NM_001080835.1	NP_001074304.1	Q8WXC7	PRR21_HUMAN	proline rich 21	107	Pro-rich.							p.R107P(2)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	29						GAGGCATGGACGAAGGGCCGT	0.617													-|||	1250	0.249601	0.2201	0.2608	5008	,	,		21906	0.3284		0.2913	False		,,,				2504	0.1575															2	Substitution - Missense(2)	prostate(2)											32	33	33					2																	240982080		2124	4240	6364	SO:0001583	missense	643905			AF453950	CCDS33417.1	2q37.3	2009-04-20			ENSG00000221961	ENSG00000221961			33866	protein-coding gene	gene with protein product							Standard	NM_001080835		Approved		uc010zod.2	Q8WXC7	OTTHUMG00000159174	ENST00000408934.1:c.320G>C	2.37:g.240982080C>G	ENSP00000386166:p.Arg107Pro			Missense_Mutation	SNP	ENST00000408934.1	37	CCDS33417.1	.	.	.	.	.	.	.	.	.	.	-	2.575	-0.298847	0.05532	.	.	ENSG00000221961	ENST00000408934;ENST00000486799	T;T	0.13657	2.57;2.57	1.79	-3.59	0.04583	.	.	.	.	.	T	0.05318	0.0141	N	0.08118	0	0.09310	N	1	B	0.15141	0.012	B	0.01281	0.0	T	0.39121	-0.9629	9	0.26408	T	0.33	.	5.3415	0.15986	0.0:0.5523:0.1504:0.2974	.	107	Q8WXC7	PRR21_HUMAN	P	107	ENSP00000386166:R107P;ENSP00000418240:R107P	ENSP00000386166:R107P	R	-	2	0	PRR21	240630753	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.287000	0.00134	-1.262000	0.02459	-1.689000	0.00729	CGT		0.617	PRR21-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080835		G	240982080	C	G	240982080	3	3	720	1	0	0	0	0	1	0	0	0	12597	536	19	4	852	4	PRR21	2	240982080	Missense_Mutation	SNP	C	TCGA-KM-8442-01A-11D-2310-10	20631945	240982080	2217293	16	40369											
ANO10	55129	broad.mit.edu	37	3	43607195	43607195	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr3:43607195delA	ENST00000292246.3	-	8	1413	c.1243delT	c.(1243-1245)tcafs	p.S415fs	ANO10_ENST00000414522.2_Frame_Shift_Del_p.S415fs|ANO10_ENST00000350459.4_Frame_Shift_Del_p.S225fs|ANO10_ENST00000396091.3_Frame_Shift_Del_p.S349fs|ANO10_ENST00000451430.2_Frame_Shift_Del_p.S304fs	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	415					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell death (GO:0008219)|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)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						TAGAAGAGTGAGGCAAAGCAA	0.333																																																0													41	39	40					3																	43607195		2200	4293	6493	SO:0001589	frameshift_variant	55129			AL832508	CCDS2710.2, CCDS56247.1, CCDS56248.1, CCDS56249.1, CCDS56250.1	3p22.1-p21.33	2014-04-09	2008-08-28	2008-08-28	ENSG00000160746	ENSG00000160746		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	25519	protein-coding gene	gene with protein product		613726	"transmembrane protein 16K"	TMEM16K		12477932, 24692353	Standard	NM_001204831		Approved	FLJ10375, MGC47890, SCAR10	uc003cmv.3	Q9NW15	OTTHUMG00000133044	ENST00000292246.3:c.1243delT	3.37:g.43607195delA	ENSP00000292246:p.Ser415fs		A8K8K3|A8MV74|B3KTZ1|B3KY93|B4DJ83|B4DNK2|B7WP12|C9JHS1|Q8IXX9	Frame_Shift_Del	DEL	ENST00000292246.3	37	CCDS2710.2																																																																																				0.333	ANO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256649.2	NM_018075		-	43607195	A	-	43607195	7	5	720	1	0	1	0	1	0	0	0	0	696	304	11	0	763	0	ANO10	3	43607195	Frame_Shift_Del	DEL	A	TCGA-KM-8442-01A-11D-2310-10		43607195	154415235	17	40370											
FLNB	2317	broad.mit.edu	37	3	58067357	58067357	+	Splice_Site	SNP	T	T	C			TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr3:58067357T>C	ENST00000295956.4	+	4	806	c.641T>C	c.(640-642)gTc>gCc	p.V214A	FLNB_ENST00000357272.4_Splice_Site_p.V214A|FLNB_ENST00000429972.2_Splice_Site_p.V214A|FLNB_ENST00000490882.1_Splice_Site_p.V214A|FLNB_ENST00000493452.1_Splice_Site_p.V45A|FLNB_ENST00000358537.3_Splice_Site_p.V214A|FLNB_ENST00000348383.5_Splice_Site_p.V214A|FLNB_ENST00000419752.2_Splice_Site_p.V45A	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	214	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				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)		TTATCCTAGGTCATCACTCCT	0.458																																																0													136	129	131					3																	58067357		2203	4300	6503	SO:0001630	splice_region_variant	2317			AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"actin binding protein 278"	603381	"filamin B, beta (actin binding protein 278)", "Larsen syndrome 1 (autosomal dominant)"	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.640-1T>C	3.37:g.58067357T>C			B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	ENST00000295956.4	37	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	T	33	5.207103	0.95033	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	D;D;D;D;D;D;D;D	0.95482	-3.72;-3.72;-3.72;-3.72;-3.72;-3.72;-3.72;-3.72	5.86	5.86	0.93980	Calponin homology domain (5);	0.051658	0.85682	D	0.000000	D	0.98015	0.9346	M	0.88105	2.93	0.80722	D	1	P;D;P;P;P;P	0.69078	0.918;0.997;0.667;0.936;0.934;0.934	P;D;B;P;P;P	0.77004	0.703;0.989;0.24;0.72;0.804;0.804	D	0.98914	1.0781	10	0.87932	D	0	.	16.5602	0.84551	0.0:0.0:0.0:1.0	.	214;214;45;45;214;214	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	A	214;214;214;214;214;214;45;45	ENSP00000295956:V214A;ENSP00000420213:V214A;ENSP00000351339:V214A;ENSP00000415599:V214A;ENSP00000232447:V214A;ENSP00000349819:V214A;ENSP00000418510:V45A;ENSP00000414532:V45A	ENSP00000295956:V214A	V	+	2	0	FLNB	58042397	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.954000	0.87848	2.367000	0.80283	0.528000	0.53228	GTC		0.458	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457	Missense_Mutation	C	58067357	T	C	58067357	5	2	720	1	0	0	0	0	0	0	1	0	5936	1681	58	3	655	3	FLNB	3	58067357	Splice_Site	SNP	T	TCGA-KM-8442-01A-11D-2310-10	14460162	58067357	139955073	18	40371											
CRIPAK	285464	mdanderson.org	37	4	1389161	1389161	+	Missense_Mutation	SNP	A	A	G	rs71614973	byFrequency	TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr4:1389161A>G	ENST00000324803.4	+	1	3822	c.862A>G	c.(862-864)Agt>Ggt	p.S288G		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	288					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)			GCCGATGTGGAGTGCCCGCCT	0.687													A|||	1051	0.209864	0.1362	0.2983	5008	,	,		13955	0.0536		0.3748	False		,,,				2504	0.2382															0													127	128	128					4																	1389161		2202	4298	6500	SO:0001583	missense	285464			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.862A>G	4.37:g.1389161A>G	ENSP00000323978:p.Ser288Gly		Q8NB03	Missense_Mutation	SNP	ENST00000324803.4	37	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	A	1.586	-0.530434	0.04112	.	.	ENSG00000179979	ENST00000324803;ENST00000382944	T	0.21734	1.99	0.815	-1.63	0.08345	.	.	.	.	.	T	0.06917	0.0176	N	0.08118	0	0.80722	P	0.0	B	0.10296	0.003	B	0.04013	0.001	T	0.39761	-0.9598	8	0.07175	T	0.84	.	2.8991	0.05700	0.2283:0.0:0.4427:0.329	.	288	Q8N1N5	CRPAK_HUMAN	G	288;230	ENSP00000323978:S288G	ENSP00000323978:S288G	S	+	1	0	CRIPAK	1379161	0.046000	0.20272	0.000000	0.03702	0.001000	0.01503	-1.350000	0.02624	-1.564000	0.01678	-0.530000	0.04314	AGT		0.687	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		G	1389161	A	G	1389161	3	3	720	1	0	0	0	0	1	0	0	0	3879	304	11	3	864	3	CRIPAK	4	1389161	Missense_Mutation	SNP	A	TCGA-KM-8442-01A-11D-2310-10		1389161	189765115	19	40372											
CYP4V2	285440	mdanderson.org	37	4	187113041	187113041	+	Missense_Mutation	SNP	C	C	G	rs1055138	byFrequency	TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr4:187113041C>G	ENST00000378802.4	+	1	368	c.64C>G	c.(64-66)Ctt>Gtt	p.L22V	AC110771.1_ENST00000596414.1_5'Flank	NM_207352.3	NP_997235.3	Q6ZWL3	CP4V2_HUMAN	cytochrome P450, family 4, subfamily V, polypeptide 2	22			L -> V (in dbSNP:rs1055138). {ECO:0000269|Ref.3}.		fatty acid omega-oxidation (GO:0010430)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|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)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		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;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		GGCGAGTGCCCTTTCCCTGGC	0.731													G|||	2052	0.409744	0.4327	0.438	5008	,	,		10614	0.2748		0.5239	False		,,,				2504	0.3804															0								G	VAL/LEU	1786,2542		418,950,796	14	15	15		64	0.7	0	4	dbSNP_86	15	4174,4354		1064,2046,1154	yes	missense	CYP4V2	NM_207352.3	32	1482,2996,1950	GG,GC,CC		48.9447,41.2662,46.3597	possibly-damaging	22/526	187113041	5960,6896	2164	4264	6428	SO:0001583	missense	285440			AK022114	CCDS34119.1	4q35.2	2004-07-05			ENSG00000145476	ENSG00000145476		"Cytochrome P450s"	23198	protein-coding gene	gene with protein product		608614				15042513	Standard	NM_207352		Approved	CYP4AH1	uc003iyw.4	Q6ZWL3	OTTHUMG00000160379	ENST00000378802.4:c.64C>G	4.37:g.187113041C>G	ENSP00000368079:p.Leu22Val		B7U6W2|Q6ZTM4	Missense_Mutation	SNP	ENST00000378802.4	37	CCDS34119.1	958	0.43864468864468864	211	0.42886178861788615	171	0.4723756906077348	169	0.29545454545454547	407	0.5369393139841688	G	0.008	-1.922890	0.00498	0.412662	0.489447	ENSG00000145476	ENST00000378802;ENST00000274118	T	0.65916	-0.18	3.89	0.679	0.17975	.	1.335020	0.05117	N	0.489936	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42137	-0.9469	9	0.14656	T	0.56	.	7.1201	0.25440	0.1277:0.4839:0.3883:0.0	rs1055138;rs3087670;rs3175018;rs60467258	22;22	Q6UWV9;Q6ZWL3	.;CP4V2_HUMAN	V	22	ENSP00000368079:L22V	ENSP00000274118:L22V	L	+	1	0	CYP4V2	187350035	0.000000	0.05858	0.002000	0.10522	0.024000	0.10985	-1.333000	0.02667	-0.003000	0.14444	-0.444000	0.05651	CTT		0.731	CYP4V2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360398.1	XM_209612		G	187113041	C	G	187113041	3	3	720	1	0	0	0	0	1	0	0	0	4194	681	24	4	66	4	CYP4V2	4	187113041	Missense_Mutation	SNP	C	TCGA-KM-8442-01A-11D-2310-10	185723880	187113041	4041235	20	40373											
PRDM9	56979	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	5	23521146	23521146	+	Silent	SNP	G	G	A			TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr5:23521146G>A	ENST00000296682.3	+	6	548	c.366G>A	c.(364-366)gcG>gcA	p.A122A		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	122					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.A122A(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						TGCCCAAGGCGTCATTCAGTA	0.398										HNSCC(3;0.000094)																																						1	Substitution - coding silent(1)	endometrium(1)											81	77	78					5																	23521146		1874	4107	5981	SO:0001819	synonymous_variant	56979			AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"-", "Zinc fingers, C2H2-type"	13994	protein-coding gene	gene with protein product	"PR-domain containing protein 9"	609760	"minisatellite binding protein 3, 115kDa", "minisatellite binding protein 3 (115kD)"	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.366G>A	5.37:g.23521146G>A			B4DX22|Q27Q50	Silent	SNP	ENST00000296682.3	37	CCDS43307.1																																																																																				0.398	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		A	23521146	G	A	23521146	2	1	720	1	0	0	0	0	0	0	0	1	12468	1132	40	1		1	PRDM9	5	23521146	Silent	SNP	G	TCGA-KM-8442-01A-11D-2310-10		23521146	157394114	21	40374											
ELOVL7	79993	ucsc.edu	37	5	60067915	60067915	+	Missense_Mutation	SNP	T	T	C			TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr5:60067915T>C	ENST00000508821.1	-	4	384	c.70A>G	c.(70-72)Aga>Gga	p.R24G	ELOVL7_ENST00000438340.1_Missense_Mutation_p.R24G|ELOVL7_ENST00000505959.1_Missense_Mutation_p.R11G|ELOVL7_ENST00000425382.1_Missense_Mutation_p.R24G	NM_024930.2	NP_079206.2	A1L3X0	ELOV7_HUMAN	ELOVL fatty acid elongase 7	24					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				TCTTCAACTCTTGGATCTAAG	0.443																																																0													41	38	39					5																	60067915		2203	4300	6503	SO:0001583	missense	79993			AK027216	CCDS34164.1	5q12	2011-05-25	2011-05-25			ENSG00000164181			26292	protein-coding gene	gene with protein product		614451	"ELOVL family member 7, elongation of long chain fatty acids (yeast)"			19826053	Standard	NM_024930		Approved	FLJ23563	uc010iwk.3	A1L3X0		ENST00000508821.1:c.70A>G	5.37:g.60067915T>C	ENSP00000424123:p.Arg24Gly		Q589T3|Q9H5D0|Q9NT66	Missense_Mutation	SNP	ENST00000508821.1	37	CCDS34164.1	.	.	.	.	.	.	.	.	.	.	T	17.78	3.473027	0.63737	.	.	ENSG00000164181	ENST00000508821;ENST00000438340;ENST00000425382;ENST00000505959;ENST00000507047;ENST00000511799	T;T;T;T	0.26957	1.74;1.74;1.74;1.7	5.73	3.11	0.35812	.	0.000000	0.85682	D	0.000000	T	0.60274	0.2256	H	0.94345	3.525	0.54753	D	0.999982	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.72253	-0.4347	10	0.87932	D	0	-17.6806	12.9079	0.58162	0.0:0.0:0.3725:0.6275	.	11;24	D6RHD0;A1L3X0	.;ELOV7_HUMAN	G	24;24;24;11;24;24	ENSP00000424123:R24G;ENSP00000411255:R24G;ENSP00000402634:R24G;ENSP00000421043:R11G	ENSP00000402634:R24G	R	-	1	2	ELOVL7	60103672	0.988000	0.35896	0.994000	0.49952	0.997000	0.91878	1.989000	0.40707	1.062000	0.40625	0.454000	0.30748	AGA		0.443	ELOVL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368195.1			C	60067915	T	C	60067915	3	2	720	1	0	0	0	0	1	0	0	0	5081	1617	56	3	799	3	ELOVL7	5	60067915	Missense_Mutation	SNP	T	TCGA-KM-8442-01A-11D-2310-10	36546769	60067915	120847345	22	40375											
NEDD9	4739	broad.mit.edu;mdanderson.org	37	6	11185614	11185614	+	Silent	SNP	C	C	T			TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr6:11185614C>T	ENST00000379446.5	-	7	2452	c.2286G>A	c.(2284-2286)acG>acA	p.T762T	NEDD9_ENST00000504387.1_Silent_p.T762T|RP3-510L9.1_ENST00000500636.2_RNA	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	762					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)			GCCGTGTCAGCGTGTCTCCAA	0.537																																																0													189	156	167					6																	11185614		2203	4300	6503	SO:0001819	synonymous_variant	4739			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.2286G>A	6.37:g.11185614C>T			A8K9G7|A8MSJ9|G5E9Y9|Q5T9R4|Q5XKI0	Silent	SNP	ENST00000379446.5	37	CCDS4520.1																																																																																				0.537	NEDD9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039853.2	NM_006403		T	11185614	C	T	11185614	2	4	720	1	0	0	0	0	0	0	0	1	10315	755	27	1		1	NEDD9	6	11185614	Silent	SNP	C	TCGA-KM-8442-01A-11D-2310-10		11185614	159929453	23	40376											
HLA-DQA2	3118	mdanderson.org	37	6	32709265	32709266	+	Missense_Mutation	DNP	TG	TG	CA	rs201984640|rs200986700	byFrequency	TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	TG	TG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr6:32709265_32709266TG>CA	ENST00000374940.3	+	1	147_148	c.45_46TG>CA	c.(43-48)acTGcc>acCAcc	p.A16T		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	16					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)|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)			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					"""Insulin(DB00071)"	TCGCCCTGACTGCCGTGATGAG	0.505																																																0																																										SO:0001583	missense	3118				CCDS4753.1	6p21.3	2013-01-11			ENSG00000237541	ENSG00000237541		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4943	protein-coding gene	gene with protein product		613503		HLA-DXA			Standard	NM_020056		Approved		uc003obx.3	P01906	OTTHUMG00000031108	Exception_encountered	6.37:g.32709265_32709266delinsCA	ENSP00000364076:p.Ala16Thr		A2BF37|B0V0E7|O19789|Q5SQ94|Q5SR04	Missense_Mutation	DNP	ENST00000374940.3	37	CCDS4753.1																																																																																				0.505	HLA-DQA2-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076179.2	NM_020056		CA	32709266	TG	CA	32709265	3	2	720	1	0	0	0	0	1	0	0	0	7207	1567	55	3	47	3	HLA-DQA2	6	32709265	Missense_Mutation	DNP	TG	TCGA-KM-8442-01A-11D-2310-10	21523651	32709265	138405802	24	40377											
TTBK1	84630	mdanderson.org	37	6	43252029	43252029	+	Missense_Mutation	SNP	T	T	C	rs3800298	byFrequency	TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr6:43252029T>C	ENST00000259750.4	+	14	3634	c.3551T>C	c.(3550-3552)tTg>tCg	p.L1184S		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	1184			L -> S (in dbSNP:rs3800298). {ECO:0000269|PubMed:17344846}.		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)			GCCCCAGCATTGGACACAGCC	0.682													C|||	1827	0.364816	0.5628	0.2378	5008	,	,		16925	0.3849		0.2515	False		,,,				2504	0.2832															0								C	SER/LEU	1274,1956		249,776,590	12	14	13		3551	4.8	0.2	6	dbSNP_107	13	1385,5175		125,1135,2020	yes	missense	TTBK1	NM_032538.1	145	374,1911,2610	CC,CT,TT		21.1128,39.4427,27.1604	benign	1184/1322	43252029	2659,7131	1615	3280	4895	SO:0001583	missense	84630			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.3551T>C	6.37:g.43252029T>C	ENSP00000259750:p.Leu1184Ser		A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Missense_Mutation	SNP	ENST00000259750.4	37	CCDS34455.1	773	0.35393772893772896	282	0.573170731707317	94	0.2596685082872928	207	0.3618881118881119	190	0.25065963060686014	C	0.003	-2.531159	0.00145	0.394427	0.211128	ENSG00000146216	ENST00000259750	T	0.51574	0.7	4.77	4.77	0.60923	.	0.586807	0.15128	N	0.278991	T	0.04724	0.0128	N	0.00621	-1.32	0.58432	P	2.9999999999752447E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.34976	-0.9807	9	0.08381	T	0.77	.	7.4137	0.27032	0.0:0.808:0.0:0.192	rs3800298;rs58957853;rs3800298	1184	Q5TCY1	TTBK1_HUMAN	S	1184	ENSP00000259750:L1184S	ENSP00000259750:L1184S	L	+	2	0	TTBK1	43360007	0.001000	0.12720	0.242000	0.24170	0.258000	0.26162	1.185000	0.32065	1.258000	0.44101	-0.215000	0.12644	TTG		0.682	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3			C	43252029	T	C	43252029	3	2	720	1	0	0	0	0	1	0	0	0	16681	1821	63	3	3601	3	TTBK1	6	43252029	Missense_Mutation	SNP	T	TCGA-KM-8442-01A-11D-2310-10	10542764	43252029	127863038	25	40378											
ARMC2	84071	ucsc.edu;bcgsc.ca	37	6	109232139	109232139	+	Missense_Mutation	SNP	A	A	G			TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr6:109232139A>G	ENST00000392644.4	+	9	1229	c.1061A>G	c.(1060-1062)aAa>aGa	p.K354R	ARMC2_ENST00000368972.3_Missense_Mutation_p.K189R	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	354										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)		AATGTCTGCAAACTTATATTT	0.328																																																0													41	42	42					6																	109232139		2201	4294	6495	SO:0001583	missense	84071			BC030603	CCDS5069.2, CCDS69168.1	6q21	2013-02-14			ENSG00000118690	ENSG00000118690		"Armadillo repeat containing"	23045	protein-coding gene	gene with protein product							Standard	XM_005267154		Approved	DKFZp434P0714, bA787I22.1	uc003pss.4	Q8NEN0	OTTHUMG00000015335	ENST00000392644.4:c.1061A>G	6.37:g.109232139A>G	ENSP00000376417:p.Lys354Arg		A8K8Y4|B4DGF5|G5E993|Q5VVY8|Q9H0K9	Missense_Mutation	SNP	ENST00000392644.4	37	CCDS5069.2	.	.	.	.	.	.	.	.	.	.	A	21.8	4.208748	0.79240	.	.	ENSG00000118690	ENST00000368972;ENST00000392644	T;T	0.46819	0.86;0.86	5.19	5.19	0.71726	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.59959	0.2232	M	0.83012	2.62	0.49915	D	0.999838	D	0.69078	0.997	P	0.59546	0.859	T	0.67313	-0.5702	10	0.56958	D	0.05	.	15.0498	0.71858	1.0:0.0:0.0:0.0	.	354	Q8NEN0	ARMC2_HUMAN	R	189;354	ENSP00000357968:K189R;ENSP00000376417:K354R	ENSP00000357968:K189R	K	+	2	0	ARMC2	109338832	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	6.658000	0.74407	1.939000	0.56221	0.482000	0.46254	AAA		0.328	ARMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041732.2	NM_032131		G	109232139	A	G	109232139	3	3	720	1	0	0	0	0	1	0	0	0	951	14	1	3	1091	3	ARMC2	6	109232139	Missense_Mutation	SNP	A	TCGA-KM-8442-01A-11D-2310-10	65980110	109232139	61882928	26	40379											
FRK	2444	hgsc.bcm.edu	37	6	116265504	116265504	+	Missense_Mutation	SNP	C	C	T	rs190064484	byFrequency	TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr6:116265504C>T	ENST00000606080.1	-	6	1489	c.1043G>A	c.(1042-1044)cGg>cAg	p.R348Q	FRK_ENST00000538210.1_Missense_Mutation_p.R206Q	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related Src family tyrosine kinase	348	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)	AATGTAGTTCCGAGACTCCAG	0.438													C|||	2	0.000399361	0.0	0.0	5008	,	,		15988	0.002		0.0	False		,,,				2504	0.0															0													93	90	91					6																	116265504		2203	4300	6503	SO:0001583	missense	2444			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.1043G>A	6.37:g.116265504C>T	ENSP00000476145:p.Arg348Gln		B4DY49|Q13128|Q9NTR5	Missense_Mutation	SNP	ENST00000606080.1	37	CCDS5103.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	8.843	0.942704	0.18281	.	.	ENSG00000111816	ENST00000368626;ENST00000538210	D;D	0.82803	-1.65;-1.65	5.6	4.37	0.52481	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.113303	0.38436	N	0.001691	T	0.41282	0.1152	N	0.05592	-0.015	0.33879	D	0.635881	B	0.02656	0.0	B	0.01281	0.0	T	0.09314	-1.0680	10	0.05351	T	0.99	.	11.351	0.49587	0.0:0.0719:0.0:0.9281	.	348	P42685	FRK_HUMAN	Q	348;206	ENSP00000357615:R348Q;ENSP00000443075:R206Q	ENSP00000357615:R348Q	R	-	2	0	FRK	116372197	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.280000	0.72626	0.930000	0.37217	-0.423000	0.05987	CGG		0.438	FRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041924.2	NM_002031		T	116265504	C	T	116265504	3	4	720	1	0	0	0	0	1	0	0	0	6050	652	23	1	486	1	FRK	6	116265504	Missense_Mutation	SNP	C	TCGA-KM-8442-01A-11D-2310-10	7033365	116265504	54849563	27	40380											
PHF10	55274	mdanderson.org	37	6	170115851	170115851	+	Missense_Mutation	SNP	G	G	A	rs77919800		TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr6:170115851G>A	ENST00000339209.4	-	6	769	c.646C>T	c.(646-648)Cgg>Tgg	p.R216W	PHF10_ENST00000366780.4_Missense_Mutation_p.R214W|PHF10_ENST00000464779.1_5'Flank	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN	PHD finger protein 10	216	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)		ATGCGTTCCCGGTTTAAGTTG	0.358																																																0													120	123	122					6																	170115851		2203	4300	6503	SO:0001583	missense	55274			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.646C>T	6.37:g.170115851G>A	ENSP00000341805:p.Arg216Trp		Q2YDA3|Q53HG8|Q9BXD2|Q9NV26	Missense_Mutation	SNP	ENST00000339209.4	37	CCDS5308.2	.	.	.	.	.	.	.	.	.	.	G	24.2	4.501168	0.85176	.	.	ENSG00000130024	ENST00000366780;ENST00000339209	T;T	0.32272	1.46;1.46	5.91	5.91	0.95273	.	0.052032	0.85682	D	0.000000	T	0.49321	0.1550	M	0.62723	1.935	0.58432	D	0.999999	D;D;D	0.89917	0.996;1.0;0.999	P;D;P	0.85130	0.702;0.997;0.794	T	0.46679	-0.9174	10	0.87932	D	0	-20.118	19.2865	0.94077	0.0:0.0:1.0:0.0	.	128;214;216	Q5T069;Q8WUB8-2;Q8WUB8	.;.;PHF10_HUMAN	W	214;216	ENSP00000355743:R214W;ENSP00000341805:R216W	ENSP00000341805:R216W	R	-	1	2	PHF10	169857776	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.685000	0.54678	2.802000	0.96397	0.655000	0.94253	CGG		0.358	PHF10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346732.1	NM_018288		A	170115851	G	A	170115851	3	1	720	1	0	0	0	0	1	0	0	0	11823	1115	39	1	878	1	PHF10	6	170115851	Missense_Mutation	SNP	G	TCGA-KM-8442-01A-11D-2310-10	53850347	170115851	999216	28	40381	354	4									
PHF10	55274	mdanderson.org	37	6	170115857	170115857	+	Missense_Mutation	SNP	A	A	C	rs144595699		TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr6:170115857A>C	ENST00000339209.4	-	6	763	c.640T>G	c.(640-642)Tta>Gta	p.L214V	PHF10_ENST00000366780.4_Missense_Mutation_p.L212V|PHF10_ENST00000464779.1_5'Flank	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN	PHD finger protein 10	214	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)		TCCCGGTTTAAGTTGCTATTA	0.373																																																0																																										SO:0001583	missense	55274			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.640T>G	6.37:g.170115857A>C	ENSP00000341805:p.Leu214Val		Q2YDA3|Q53HG8|Q9BXD2|Q9NV26	Missense_Mutation	SNP	ENST00000339209.4	37	CCDS5308.2	.	.	.	.	.	.	.	.	.	.	A	19.89	3.910262	0.72983	.	.	ENSG00000130024	ENST00000366780;ENST00000339209	T;T	0.32272	1.46;1.46	5.91	-0.532	0.11890	.	0.058333	0.64402	D	0.000001	T	0.18002	0.0432	M	0.65975	2.015	0.42139	D	0.991505	P;P;P	0.52316	0.894;0.739;0.952	B;B;B	0.43990	0.438;0.225;0.437	T	0.07028	-1.0794	10	0.62326	D	0.03	-9.8963	9.7614	0.40534	0.6235:0.0:0.3765:0.0	.	126;212;214	Q5T069;Q8WUB8-2;Q8WUB8	.;.;PHF10_HUMAN	V	212;214	ENSP00000355743:L212V;ENSP00000341805:L214V	ENSP00000341805:L214V	L	-	1	2	PHF10	169857782	0.998000	0.40836	0.488000	0.27440	0.991000	0.79684	0.855000	0.27805	-0.303000	0.08856	0.533000	0.62120	TTA		0.373	PHF10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346732.1	NM_018288		C	170115857	A	C	170115857	3	2	720	1	0	0	0	0	1	0	0	0	11823	69	3	5	884	5	PHF10	6	170115857	Missense_Mutation	SNP	A	TCGA-KM-8442-01A-11D-2310-10	6	170115857	999210	29	40382	354	4									
PHF10	55274	mdanderson.org	37	6	170115864	170115864	+	Silent	SNP	A	A	G			TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr6:170115864A>G	ENST00000339209.4	-	6	756	c.633T>C	c.(631-633)aaT>aaC	p.N211N	PHF10_ENST00000366780.4_Silent_p.N209N|PHF10_ENST00000464779.1_5'Flank	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN	PHD finger protein 10	211	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)		TTAAGTTGCTATTAAATTCTG	0.363																																																0													111	113	112					6																	170115864		2203	4300	6503	SO:0001819	synonymous_variant	55274			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.633T>C	6.37:g.170115864A>G			Q2YDA3|Q53HG8|Q9BXD2|Q9NV26	Silent	SNP	ENST00000339209.4	37	CCDS5308.2																																																																																				0.363	PHF10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346732.1	NM_018288		G	170115864	A	G	170115864	2	3	720	1	0	0	0	0	0	0	0	1	11823	446	16	3		3	PHF10	6	170115864	Silent	SNP	A	TCGA-KM-8442-01A-11D-2310-10	7	170115864	999203	30	40383	354	4									
PHF10	55274	mdanderson.org	37	6	170115873	170115873	+	Silent	SNP	T	T	A			TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr6:170115873T>A	ENST00000339209.4	-	6	747	c.624A>T	c.(622-624)gcA>gcT	p.A208A	PHF10_ENST00000366780.4_Silent_p.A206A|PHF10_ENST00000464779.1_5'Flank	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN	PHD finger protein 10	208	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)		TATTAAATTCTGCTGCTTTTT	0.363																																																0													106	108	108					6																	170115873		2203	4300	6503	SO:0001819	synonymous_variant	55274			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.624A>T	6.37:g.170115873T>A			Q2YDA3|Q53HG8|Q9BXD2|Q9NV26	Silent	SNP	ENST00000339209.4	37	CCDS5308.2																																																																																				0.363	PHF10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346732.1	NM_018288		A	170115873	T	A	170115873	2	1	720	1	0	0	0	0	0	0	0	1	11823	1567	55	5		5	PHF10	6	170115873	Silent	SNP	T	TCGA-KM-8442-01A-11D-2310-10	9	170115873	999194	31	40384	354	4									
CREB5	9586	broad.mit.edu	37	7	28848967	28848967	+	Missense_Mutation	SNP	A	A	G			TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr7:28848967A>G	ENST00000357727.2	+	9	1580	c.1190A>G	c.(1189-1191)aAg>aGg	p.K397R	CREB5_ENST00000396298.2_Missense_Mutation_p.K258R|CREB5_ENST00000396300.2_Missense_Mutation_p.K390R|CREB5_ENST00000396299.2_Missense_Mutation_p.K364R|CREB5_ENST00000409603.1_Missense_Mutation_p.K364R	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	397	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				adipose tissue development (GO:0060612)|fat cell differentiation (GO:0045444)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|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(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						CAGAAGAGGAAGGTCTGGGTG	0.592																																																0													45	51	49					7																	28848967		2203	4300	6503	SO:0001583	missense	9586			L05515	CCDS5417.1, CCDS5418.1, CCDS43562.1, CCDS43563.1	7p15	2013-01-10			ENSG00000146592	ENSG00000146592		"basic leucine zipper proteins"	16844	protein-coding gene	gene with protein product	"cAMP response element binding protein CRE-Bpa"					8378084, 8440710	Standard	XM_005249906		Approved	H_GS165L15.1, CRE-BPA	uc003szr.3	Q02930	OTTHUMG00000097081	ENST00000357727.2:c.1190A>G	7.37:g.28848967A>G	ENSP00000350359:p.Lys397Arg		A8KA51|B4DU13|B5BUH3|C9JK47|Q05886|Q06246|Q75N02|Q86UJ9	Missense_Mutation	SNP	ENST00000357727.2	37	CCDS5417.1	.	.	.	.	.	.	.	.	.	.	A	34	5.314023	0.95655	.	.	ENSG00000146592	ENST00000396299;ENST00000357727;ENST00000396300;ENST00000409603;ENST00000396298	T;T;T;T;T	0.58210	0.35;0.35;0.35;0.35;0.35	5.99	5.99	0.97316	Basic-leucine zipper (bZIP) transcription factor (2);bZIP transcription factor, bZIP-1 (1);	0.000000	0.85682	D	0.000000	T	0.69369	0.3103	L	0.53617	1.68	0.58432	D	0.999996	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.999	T	0.71679	-0.4520	10	0.87932	D	0	-28.5584	16.4943	0.84223	1.0:0.0:0.0:0.0	.	258;397	B4DU13;Q02930	.;CREB5_HUMAN	R	364;397;390;364;258	ENSP00000379593:K364R;ENSP00000350359:K397R;ENSP00000379594:K390R;ENSP00000387197:K364R;ENSP00000379592:K258R	ENSP00000350359:K397R	K	+	2	0	CREB5	28815492	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.291000	0.77112	0.533000	0.62120	AAG		0.592	CREB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214204.4	NM_004904		G	28848967	A	G	28848967	3	3	720	1	0	0	0	0	1	0	0	0	3862	72	3	3	1275	3	CREB5	7	28848967	Missense_Mutation	SNP	A	TCGA-KM-8442-01A-11D-2310-10		28848967	130289696	32	40385											
AVL9	23080	bcgsc.ca	37	7	32591845	32591845	+	Missense_Mutation	SNP	T	T	C			TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr7:32591845T>C	ENST00000318709.4	+	6	688	c.467T>C	c.(466-468)cTt>cCt	p.L156P	AVL9_ENST00000404479.1_Missense_Mutation_p.L156P|AVL9_ENST00000409301.1_Missense_Mutation_p.L156P	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	156					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						TTATAGGAGCTTTATGAACAT	0.313																																																0													38	40	39					7																	32591845		2202	4298	6500	SO:0001583	missense	23080			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.467T>C	7.37:g.32591845T>C	ENSP00000315568:p.Leu156Pro		Q92573	Missense_Mutation	SNP	ENST00000318709.4	37	CCDS34613.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.208264	0.79240	.	.	ENSG00000105778	ENST00000318709;ENST00000409301;ENST00000329714;ENST00000404479;ENST00000446718	T;T;T;T	0.53206	0.63;0.63;0.63;0.63	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.70762	0.3261	M	0.81802	2.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.73864	-0.3848	10	0.54805	T	0.06	-14.4166	16.1864	0.81955	0.0:0.0:0.0:1.0	.	156;156	Q8N6Z3;Q8NBF6	.;AVL9_HUMAN	P	156;156;156;156;87	ENSP00000315568:L156P;ENSP00000387011:L156P;ENSP00000385242:L156P;ENSP00000395134:L87P	ENSP00000315568:L156P	L	+	2	0	AVL9	32558370	1.000000	0.71417	0.991000	0.47740	0.931000	0.56810	7.467000	0.80930	2.281000	0.76405	0.528000	0.53228	CTT		0.313	AVL9-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328643.1	NM_015060		C	32591845	T	C	32591845	3	2	720	1	0	0	0	0	1	0	0	0	1228	1609	56	3	489	3	AVL9	7	32591845	Missense_Mutation	SNP	T	TCGA-KM-8442-01A-11D-2310-10	3742878	32591845	126546818	33	40386											
ZAN	7455	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	7	100346036	100346036	+	RNA	SNP	G	G	A	rs574016648		TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr7:100346036G>A	ENST00000348028.3	+	0	1357				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_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)			CTGGGCCCTCGGACATAAAAA	0.567													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17018	0.0		0.0	False		,,,				2504	0.0															0													51	52	52					7																	100346036		1906	4111	6017			7455			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100346036G>A			A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	ENST00000348028.3	37		.	.	.	.	.	.	.	.	.	.	G	16.16	3.045328	0.55110	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.02140	4.43;4.43;4.43	4.81	2.99	0.34606	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.000000	0.38605	N	0.001638	T	0.06826	0.0174	L	0.50847	1.595	0.20821	N	0.999845	D;D	0.89917	1.0;1.0	D;D	0.76575	0.98;0.988	T	0.08027	-1.0742	10	0.72032	D	0.01	.	6.3795	0.21525	0.2137:0.0:0.7863:0.0	.	398;398	F5H0T8;Q9Y493	.;ZAN_HUMAN	R	398	ENSP00000445943:G398R;ENSP00000445091:G398R;ENSP00000444427:G398R	ENSP00000423579:G398R	G	+	1	0	ZAN	100183972	0.009000	0.17119	0.103000	0.21229	0.027000	0.11550	1.225000	0.32551	1.340000	0.45581	0.555000	0.69702	GGA		0.567	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		A	100346036	G	A	100346036	1	1	720	0	1	0	0	0	0	0	0	0	17518	1117	39	1		1	ZAN	7	100346036	RNA	SNP	G	TCGA-KM-8442-01A-11D-2310-10	67754191	100346036	58792627	34	40387											
KCNH2	3757	broad.mit.edu	37	7	150642468	150642469	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr7:150642468_150642469insG	ENST00000262186.5	-	15	3865_3866	c.3464_3465insC	c.(3463-3465)tcgfs	p.S1155fs	KCNH2_ENST00000330883.4_Frame_Shift_Ins_p.S815fs|KCNH2_ENST00000392968.2_Frame_Shift_Ins_p.S1059fs	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	1155					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)			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	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)	TGCCCGGGTCCGAGCCGTGTCT	0.718																																					GBM(137;110 1844 13671 20123 45161)											0																																										SO:0001589	frameshift_variant	3757			U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.3465dupC	7.37:g.150642469_150642469dupG	ENSP00000262186:p.Ser1155fs		A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Frame_Shift_Ins	INS	ENST00000262186.5	37	CCDS5910.1																																																																																				0.718	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350741.2	NM_000238		G	150642469	-	G	150642468	7	5	720	1	0	1	1	0	0	0	0	0	8034	639	23	0	18	0	KCNH2	7	150642468	Frame_Shift_Ins	INS	-	TCGA-KM-8442-01A-11D-2310-10	50296432	150642468	8496195	35	40388											
MLL3	58508	broad.mit.edu;bcgsc.ca	37	7	151917680	151917680	+	Missense_Mutation	SNP	C	C	T			TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr7:151917680C>T	ENST00000262189.6	-	23	3858	c.3640G>A	c.(3640-3642)Gtg>Atg	p.V1214M	KMT2C_ENST00000355193.2_Missense_Mutation_p.V1214M	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1214					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)										AGGACGGCCACGCTATTCTGA	0.393																																																0													92	86	88					7																	151917680		2203	4300	6503	SO:0001583	missense	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.3640G>A	7.37:g.151917680C>T	ENSP00000262189:p.Val1214Met		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.398057	0.62177	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.84516	-1.85;-1.86	4.44	4.44	0.53790	.	0.000000	0.39210	U	0.001435	D	0.89993	0.6876	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.67382	0.921;0.951	D	0.90635	0.4570	10	0.52906	T	0.07	.	17.4147	0.87496	0.0:1.0:0.0:0.0	.	1214;275	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	M	1214	ENSP00000262189:V1214M;ENSP00000347325:V1214M	ENSP00000262189:V1214M	V	-	1	0	MLL3	151548613	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.392000	0.79840	2.161000	0.67846	0.484000	0.47621	GTG		0.393	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			T	151917680	C	T	151917680	3	4	720	1	0	0	0	0	1	0	0	0	9624	536	19	1	11243	1	MLL3	7	151917680	Missense_Mutation	SNP	C	TCGA-KM-8442-01A-11D-2310-10	1275212	151917680	7220983	36	40389											
TMEM70	54968	mdanderson.org	37	8	74888616	74888616	+	Missense_Mutation	SNP	G	G	C	rs8075	byFrequency	TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr8:74888616G>C	ENST00000312184.5	+	1	173	c.100G>C	c.(100-102)Gcc>Ccc	p.A34P	TMEM70_ENST00000523794.1_3'UTR|TMEM70_ENST00000517439.1_Missense_Mutation_p.A34P	NM_001040613.2|NM_017866.5	NP_001035703.1|NP_060336.3	Q9BUB7	TMM70_HUMAN	transmembrane protein 70	34			A -> P (in dbSNP:rs8075).		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)			AGGTCCCCGGGCCTCTGTCTC	0.731													G|||	882	0.176118	0.2595	0.1715	5008	,	,		10013	0.1171		0.1491	False		,,,				2504	0.1554															0								G	PRO/ALA,PRO/ALA	1119,3259		156,807,1226	12	13	13		100,100	2.7	0	8	dbSNP_52	13	1112,7432		88,936,3248	no	missense,missense	TMEM70	NM_001040613.2,NM_017866.5	27,27	244,1743,4474	CC,CG,GG		13.015,25.5596,17.2651	probably-damaging,probably-damaging	34/108,34/261	74888616	2231,10691	2189	4272	6461	SO:0001583	missense	54968			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.100G>C	8.37:g.74888616G>C	ENSP00000312599:p.Ala34Pro		E9PDY9|Q9NWY5	Missense_Mutation	SNP	ENST00000312184.5	37	CCDS6215.1	377	0.17261904761904762	154	0.3130081300813008	63	0.17403314917127072	63	0.11013986013986014	97	0.1279683377308707	G	18.66	3.671897	0.67928	0.255596	0.13015	ENSG00000175606	ENST00000517439;ENST00000312184	T;T	0.50001	0.76;1.09	3.61	2.71	0.32032	.	1.008340	0.07980	N	0.985433	T	0.00012	0.0000	N	0.24115	0.695	0.80722	P	0.0	D;P	0.55385	0.971;0.917	P;B	0.55391	0.775;0.445	T	0.24512	-1.0158	9	0.38643	T	0.18	-1.4075	7.4815	0.27408	0.122:0.0:0.878:0.0	rs8075;rs3193742;rs17295004;rs17349529	34;34	E9PDY9;Q9BUB7	.;TMM70_HUMAN	P	34	ENSP00000429467:A34P;ENSP00000312599:A34P	ENSP00000312599:A34P	A	+	1	0	TMEM70	75051170	0.013000	0.17824	0.002000	0.10522	0.009000	0.06853	1.407000	0.34657	1.077000	0.40990	0.491000	0.48974	GCC		0.731	TMEM70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379028.1	NM_017866		C	74888616	G	C	74888616	3	2	720	1	0	0	0	0	1	0	0	0	16204	1203	42	4	102	4	TMEM70	8	74888616	Missense_Mutation	SNP	G	TCGA-KM-8442-01A-11D-2310-10		74888616	71475406	37	40390											
ADAMTSL1	92949	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	9	18777867	18777867	+	Missense_Mutation	SNP	T	T	A			TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr9:18777867T>A	ENST00000380548.4	+	19	3979	c.3640T>A	c.(3640-3642)Tgg>Agg	p.W1214R		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1214	Ig-like C2-type 2.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.W1214R(1)		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)		TACCATCAGCTGGGCCAGGAA	0.612																																																1	Substitution - Missense(1)	endometrium(1)											50	51	51					9																	18777867		2030	4187	6217	SO:0001583	missense	92949			AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"Immunoglobulin superfamily / I-set domain containing"	14632	protein-coding gene	gene with protein product	"punctin"	609198	"chromosome 9 open reading frame 94"	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.3640T>A	9.37:g.18777867T>A	ENSP00000369921:p.Trp1214Arg		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	37	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	T	18.95	3.730924	0.69074	.	.	ENSG00000178031	ENST00000380548	D	0.96300	-3.97	5.9	5.9	0.94986	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000004	D	0.98931	0.9637	H	0.98178	4.165	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99466	1.0944	10	0.87932	D	0	.	16.326	0.82979	0.0:0.0:0.0:1.0	.	1214	Q8N6G6	ATL1_HUMAN	R	1214	ENSP00000369921:W1214R	ENSP00000369921:W1214R	W	+	1	0	ADAMTSL1	18767867	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	5.568000	0.67385	2.258000	0.74832	0.528000	0.53228	TGG		0.612	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			A	18777867	T	A	18777867	3	1	720	1	0	0	0	0	1	0	0	0	274	1580	55	5	3718	5	ADAMTSL1	9	18777867	Missense_Mutation	SNP	T	TCGA-KM-8442-01A-11D-2310-10		18777867	122435564	38	40391											
AQP7	364	mdanderson.org;bcgsc.ca	37	9	33385808	33385808	+	Missense_Mutation	SNP	G	G	T	rs62542744		TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr9:33385808G>T	ENST00000537089.1	-	6	624	c.306C>A	c.(304-306)aaC>aaA	p.N102K	AQP7_ENST00000377425.4_Missense_Mutation_p.N137K|AQP7_ENST00000541274.1_Missense_Mutation_p.Q63K|AQP7_ENST00000539936.1_Missense_Mutation_p.N194K			O14520	AQP7_HUMAN	aquaporin 7	194					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)		GTGCTGGGTTGTTCTCCTGGT	0.607																																																0													122	107	112					9																	33385808		2203	4300	6503	SO:0001583	missense	364			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.306C>A	9.37:g.33385808G>T	ENSP00000441619:p.Asn102Lys		Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000537089.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	15.08|15.08	2.727222|2.727222	0.48833|0.48833	.|.	.|.	ENSG00000165269|ENSG00000165269	ENST00000537089;ENST00000379507;ENST00000447660;ENST00000297988;ENST00000377425;ENST00000439678;ENST00000379506;ENST00000539936;ENST00000379503|ENST00000541274	D;D;D;D;D;D;D;D;D|T	0.83755|0.43688	-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76|0.94	5.02|5.02	4.12|4.12	0.48240|0.48240	Aquaporin-like (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.54711|0.54711	0.1875|0.1875	L|L	0.56396|0.56396	1.775|1.775	0.80722|0.80722	D|D	1|1	D;D;D;D|D	0.89917|0.76494	1.0;0.999;1.0;1.0|0.999	D;D;D;D|D	0.87578|0.72338	0.995;0.995;0.993;0.998|0.977	T|T	0.53143|0.53143	-0.8480|-0.8480	10|8	0.87932|.	D|.	0|.	-24.7401|-24.7401	7.8517|7.8517	0.29459|0.29459	0.1855:0.0:0.8145:0.0|0.1855:0.0:0.8145:0.0	rs62542744|rs62542744	193;194;137;194|63	Q5T5M0;B7Z4U2;Q6P5T0;O14520|B7Z7F6	.;.;.;AQP7_HUMAN|.	K|K	102;193;62;194;137;102;193;194;130|63	ENSP00000441619:N102K;ENSP00000368821:N193K;ENSP00000412868:N62K;ENSP00000297988:N194K;ENSP00000396111:N137K;ENSP00000410138:N102K;ENSP00000368820:N193K;ENSP00000439534:N194K;ENSP00000368817:N130K|ENSP00000438860:Q63K	ENSP00000297988:N194K|.	N|Q	-|-	3|1	2|0	AQP7|AQP7	33375808|33375808	1.000000|1.000000	0.71417|0.71417	0.740000|0.740000	0.30986|0.30986	0.116000|0.116000	0.19942|0.19942	2.130000|2.130000	0.42064|0.42064	1.319000|1.319000	0.45190|0.45190	0.645000|0.645000	0.84053|0.84053	AAC|CAA		0.607	AQP7-202	KNOWN	basic	protein_coding	protein_coding		NM_001170		T	33385808	G	T	33385808	3	4	720	1	0	0	0	0	1	0	0	0	831	1368	48	4	454	4	AQP7	9	33385808	Missense_Mutation	SNP	G	TCGA-KM-8442-01A-11D-2310-10	14607941	33385808	107827623	39	40392											
PRSS3	5646	mdanderson.org	37	9	33796801	33796801	+	Splice_Site	SNP	G	G	A	rs143707562		TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr9:33796801G>A	ENST00000361005.5	+	2	371		c.e2+1		PRSS3_ENST00000342836.4_Splice_Site|PRSS3_ENST00000429677.3_Splice_Site|RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000379405.3_Splice_Site	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3						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)			GCTACAAGACGTAAGTGTGGG	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		18879	0.001		0.0	False		,,,				2504	0.0															0													70	70	70					9																	33796801		2203	4300	6503	SO:0001630	splice_region_variant	5646				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.371+1G>A	9.37:g.33796801G>A			A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	Splice_Site	SNP	ENST00000361005.5	37	CCDS47958.1	.	.	.	.	.	.	.	.	.	.	G	7.509	0.654290	0.14580	.	.	ENSG00000010438	ENST00000361005;ENST00000457896;ENST00000342836;ENST00000429677;ENST00000379405	.	.	.	3.21	2.29	0.28610	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.1922	0.31374	0.1286:0.0:0.8714:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PRSS3	33786801	1.000000	0.71417	0.775000	0.31657	0.032000	0.12392	8.277000	0.89896	0.482000	0.27582	0.306000	0.20318	.		0.597	PRSS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052121.1	NM_002771	Intron	A	33796801	G	A	33796801	5	1	720	1	0	0	0	0	0	0	1	0	12627	1159	40	1	422	1	PRSS3	9	33796801	Splice_Site	SNP	G	TCGA-KM-8442-01A-11D-2310-10	410993	33796801	107416630	40	40393											
KIAA1217	56243	ucsc.edu	37	10	24790406	24790406	+	Missense_Mutation	SNP	A	A	G			TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr10:24790406A>G	ENST00000376454.3	+	9	1963	c.1933A>G	c.(1933-1935)Agc>Ggc	p.S645G	KIAA1217_ENST00000396446.1_Missense_Mutation_p.S328G|KIAA1217_ENST00000376452.3_Missense_Mutation_p.S610G|KIAA1217_ENST00000458595.1_Missense_Mutation_p.S610G|KIAA1217_ENST00000376462.1_Missense_Mutation_p.S565G|KIAA1217_ENST00000396445.1_Missense_Mutation_p.S328G|KIAA1217_ENST00000430453.2_Missense_Mutation_p.S531G|KIAA1217_ENST00000376451.2_Missense_Mutation_p.S328G|KIAA1217_ENST00000307544.6_Missense_Mutation_p.S328G	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	645					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						CATCCACATGAGCCTGCTTGA	0.637																																																0													77	68	71					10																	24790406		2203	4300	6503	SO:0001583	missense	56243			BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"sickle tail"					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.1933A>G	10.37:g.24790406A>G	ENSP00000365637:p.Ser645Gly		A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	A	19.85	3.902898	0.72754	.	.	ENSG00000120549	ENST00000376462;ENST00000376456;ENST00000458595;ENST00000442879;ENST00000376454;ENST00000376452;ENST00000438429;ENST00000430453;ENST00000307544;ENST00000450158;ENST00000396445;ENST00000376451;ENST00000396446	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	5.71	5.71	0.89125	.	0.160790	0.64402	D	0.000002	T	0.64494	0.2603	L	0.60455	1.87	0.50467	D	0.999877	D;D;D;D;D;D;D;D	0.76494	0.999;0.973;0.999;0.984;0.999;0.999;0.992;0.975	D;P;D;P;D;D;D;P	0.85130	0.991;0.633;0.99;0.798;0.997;0.991;0.986;0.647	T	0.60637	-0.7224	10	0.27785	T	0.31	.	15.9709	0.80019	1.0:0.0:0.0:0.0	.	610;610;328;328;328;328;645;645	Q5T5P2-7;A6NLF3;Q5T5P2-4;Q5T5P2-8;Q5T5P2-3;Q5T5P2-6;Q5T5P2;Q5T5P2-2	.;.;.;.;.;.;SKT_HUMAN;.	G	565;610;610;328;645;610;460;531;328;328;328;328;328	ENSP00000365645:S565G;ENSP00000365639:S610G;ENSP00000392625:S610G;ENSP00000365637:S645G;ENSP00000365635:S610G;ENSP00000404798:S460G;ENSP00000389680:S531G;ENSP00000302343:S328G;ENSP00000379722:S328G;ENSP00000365634:S328G;ENSP00000379723:S328G	ENSP00000302343:S328G	S	+	1	0	KIAA1217	24830412	1.000000	0.71417	0.976000	0.42696	0.577000	0.36160	6.249000	0.72427	2.182000	0.69389	0.533000	0.62120	AGC		0.637	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		G	24790406	A	G	24790406	3	3	720	1	0	0	0	0	1	0	0	0	8218	304	11	3	1967	3	KIAA1217	10	24790406	Missense_Mutation	SNP	A	TCGA-KM-8442-01A-11D-2310-10		24790406	110744341	41	40394											
ZRANB1	54764	bcgsc.ca	37	10	126631811	126631811	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr10:126631811delA	ENST00000359653.4	+	1	1120	c.749delA	c.(748-750)aaafs	p.K251fs	RP11-298J20.4_ENST00000508096.1_RNA|RP11-298J20.3_ENST00000449984.1_RNA	NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	251					cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|positive regulation of Wnt signaling pathway (GO:0030177)|protein deubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0071947)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell morphogenesis (GO:0022604)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		GTAGACTTTAAAAAACTAAAG	0.413																																																0													43	47	46					10																	126631811		2203	4300	6503	SO:0001589	frameshift_variant	54764			AJ252060	CCDS7642.1	10q26.12	2014-02-24			ENSG00000019995	ENSG00000019995		"Zinc fingers, RAN-binding domain containing", "OTU domain containing"	18224	protein-coding gene	gene with protein product		611749				11463333	Standard	NM_017580		Approved	TRABID	uc001lic.3	Q9UGI0	OTTHUMG00000019223	ENST00000359653.4:c.749delA	10.37:g.126631811delA	ENSP00000352676:p.Lys251fs		B4DZ98|D3DRF4|Q5SQP6|Q69YK3	Frame_Shift_Del	DEL	ENST00000359653.4	37	CCDS7642.1																																																																																				0.413	ZRANB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050898.1	NM_017580		-	126631811	A	-	126631811	7	5	720	1	0	1	0	1	0	0	0	0	18227	14	1	0	751	0	ZRANB1	10	126631811	Frame_Shift_Del	DEL	A	TCGA-KM-8442-01A-11D-2310-10	101841405	126631811	8902936	42	40395											
CAPRIN1	4076	broad.mit.edu	37	11	34074126	34074126	+	Silent	SNP	C	C	T			TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr11:34074126C>T	ENST00000341394.4	+	2	348	c.159C>T	c.(157-159)gcC>gcT	p.A53A	CAPRIN1_ENST00000530820.1_Silent_p.A53A|CAPRIN1_ENST00000529307.1_5'Flank|CAPRIN1_ENST00000389645.3_Silent_p.A53A|CAPRIN1_ENST00000532820.1_Silent_p.A53A	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	53					negative regulation of translation (GO:0017148)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				AGACCGAGGCCATGAAGCAGA	0.692																																																0													15	16	16					11																	34074126		2181	4272	6453	SO:0001819	synonymous_variant	4076			BC001731	CCDS31453.1, CCDS31454.1	11p13	2010-08-03	2007-03-27	2007-03-27	ENSG00000135387	ENSG00000135387			6743	protein-coding gene	gene with protein product	"cytoplasmic activation/proliferation-associated protein-1"	601178	"membrane component, chromosome 11, surface marker 1", "GPI-anchored membrane protein 1"	M11S1, GPIAP1		7657653, 16177067, 17210633, 14764709, 15471883	Standard	NM_005898		Approved	caprin-1, RNG105	uc001mvh.1	Q14444	OTTHUMG00000166248	ENST00000341394.4:c.159C>T	11.37:g.34074126C>T			A6NMY7|D3DR06|Q15074|Q6IMN4|Q6IMN7|Q9BV09	Silent	SNP	ENST00000341394.4	37	CCDS31453.1																																																																																				0.692	CAPRIN1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000388680.2	NM_005898		T	34074126	C	T	34074126	2	4	720	1	0	0	0	0	0	0	0	1	2637	581	21	2		2	CAPRIN1	11	34074126	Silent	SNP	C	TCGA-KM-8442-01A-11D-2310-10		34074126	100932390	43	40396											
OR4X1	390113	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	11	48285540	48285540	+	Missense_Mutation	SNP	T	T	C	rs144193033		TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr11:48285540T>C	ENST00000320048.1	+	1	128	c.128T>C	c.(127-129)aTt>aCt	p.I43T		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	43						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						AATGGCCTCATTGTGGTGACC	0.478																																																0								T	THR/ILE	1,4401	2.1+/-5.4	0,1,2200	181	162	169		128	3.1	1	11	dbSNP_134	169	0,8596		0,0,4298	no	missense	OR4X1	NM_001004726.1	89	0,1,6498	CC,CT,TT		0.0,0.0227,0.0077	possibly-damaging	43/306	48285540	1,12997	2201	4298	6499	SO:0001583	missense	390113			AB065544	CCDS31487.1	11p11.2	2013-10-10	2013-10-10		ENSG00000176567	ENSG00000176567		"GPCR / Class A : Olfactory receptors"	14854	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily X, member 1"				Standard	NM_001004726		Approved		uc010rht.2	Q8NH49	OTTHUMG00000165301	ENST00000320048.1:c.128T>C	11.37:g.48285540T>C	ENSP00000321506:p.Ile43Thr		Q6IF74	Missense_Mutation	SNP	ENST00000320048.1	37	CCDS31487.1	.	.	.	.	.	.	.	.	.	.	T	10.68	1.419124	0.25552	2.27E-4	0.0	ENSG00000176567	ENST00000320048	T	0.00531	6.76	4.23	3.09	0.35607	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01124	0.0037	M	0.84585	2.705	0.23221	N	0.998095	D	0.55800	0.973	P	0.51229	0.663	T	0.44236	-0.9341	9	0.54805	T	0.06	.	8.1785	0.31296	0.0:0.0987:0.0:0.9013	.	43	Q8NH49	OR4X1_HUMAN	T	43	ENSP00000321506:I43T	ENSP00000321506:I43T	I	+	2	0	OR4X1	48242116	0.081000	0.21417	0.996000	0.52242	0.048000	0.14542	2.657000	0.46724	0.757000	0.33036	-0.458000	0.05436	ATT		0.478	OR4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383373.1	NM_001004726		C	48285540	T	C	48285540	3	2	720	1	0	0	0	0	1	0	0	0	11086	1493	52	3	130	3	OR4X1	11	48285540	Missense_Mutation	SNP	T	TCGA-KM-8442-01A-11D-2310-10	14211414	48285540	86720976	44	40397											
OR4C12	283093	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	11	50004015	50004015	+	Missense_Mutation	SNP	G	G	A			TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr11:50004015G>A	ENST00000335238.4	-	1	56	c.23C>T	c.(22-24)aCt>aTt	p.T8I		NM_001005270.2	NP_001005270.2	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	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)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						AATGAATTCAGTCACATTCTT	0.338																																																0													48	44	45					11																	50004015		2201	4296	6497	SO:0001583	missense	283093			BK004413	CCDS31496.1	11p11.12	2012-08-09			ENSG00000221954	ENSG00000221954		"GPCR / Class A : Olfactory receptors"	15168	protein-coding gene	gene with protein product							Standard	NM_001005270		Approved		uc010ria.2	Q96R67	OTTHUMG00000166687	ENST00000335238.4:c.23C>T	11.37:g.50004015G>A	ENSP00000334418:p.Thr8Ile		B2RNF0|Q6IF49	Missense_Mutation	SNP	ENST00000335238.4	37	CCDS31496.1	.	.	.	.	.	.	.	.	.	.	.	15.69	2.908473	0.52333	.	.	ENSG00000221954	ENST00000335238	T	0.02158	4.42	3.31	3.31	0.37934	.	0.000000	0.43260	U	0.000595	T	0.11879	0.0289	M	0.86028	2.79	0.26673	N	0.971689	D	0.63046	0.992	D	0.65010	0.931	T	0.00907	-1.1519	10	0.87932	D	0	.	12.6176	0.56586	0.0:0.0:1.0:0.0	.	8	Q96R67	OR4CC_HUMAN	I	8	ENSP00000334418:T8I	ENSP00000334418:T8I	T	-	2	0	OR4C12	49960591	0.000000	0.05858	0.983000	0.44433	0.764000	0.43329	0.307000	0.19296	1.878000	0.54408	0.398000	0.26397	ACT		0.338	OR4C12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391104.1	NM_001005270		A	50004015	G	A	50004015	3	1	720	1	0	0	0	0	1	0	0	0	11048	1029	36	2	910	2	OR4C12	11	50004015	Missense_Mutation	SNP	G	TCGA-KM-8442-01A-11D-2310-10	1718475	50004015	85002501	45	40398											
OR5M9	390162	mdanderson.org;bcgsc.ca	37	11	56230678	56230678	+	Missense_Mutation	SNP	G	G	A	rs61902871	byFrequency	TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr11:56230678G>A	ENST00000279791.1	-	1	199	c.200C>T	c.(199-201)gCg>gTg	p.A67V		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	67						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)					GCACACGTCCGCAAAAGACAG	0.428													a|||	519	0.103634	0.2481	0.062	5008	,	,		21278	0.001		0.0934	False		,,,				2504	0.0542															0								A	VAL/ALA	946,3456	735.1+/-410.6	118,710,1373	80	82	81		200	3.7	1	11	dbSNP_129	81	698,7894	787.4+/-407.6	35,628,3633	yes	missense	OR5M9	NM_001004743.1	64	153,1338,5006	AA,AG,GG		8.1238,21.4902,12.652	benign	67/311	56230678	1644,11350	2201	4296	6497	SO:0001583	missense	390162			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.200C>T	11.37:g.56230678G>A	ENSP00000279791:p.Ala67Val		Q6IEW5|Q96RB9	Missense_Mutation	SNP	ENST00000279791.1	37	CCDS31531.1	236	0.10805860805860806	146	0.2967479674796748	20	0.055248618784530384	0	0.0	70	0.09234828496042216	A	0.026	-1.372847	0.01214	0.214902	0.081238	ENSG00000150269	ENST00000279791	T	0.02837	4.14	4.85	3.72	0.42706	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41194	N	0.000938	T	0.00012	0.0000	N	0.00602	-1.34	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.44251	-0.9340	9	0.02654	T	1	-16.2914	6.9898	0.24750	0.7313:0.0:0.2687:0.0	rs61902871	67	Q8NGP3	OR5M9_HUMAN	V	67	ENSP00000279791:A67V	ENSP00000279791:A67V	A	-	2	0	OR5M9	55987254	0.000000	0.05858	0.971000	0.41717	0.666000	0.39218	0.408000	0.21065	0.296000	0.22592	-1.839000	0.00587	GCG		0.428	OR5M9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391638.1	NM_001004743		A	56230678	G	A	56230678	3	1	720	1	0	0	0	0	1	0	0	0	11179	1087	38	1	734	1	OR5M9	11	56230678	Missense_Mutation	SNP	G	TCGA-KM-8442-01A-11D-2310-10	6226663	56230678	78775838	46	40399											
P2RY2	5029	ucsc.edu;mdanderson.org	37	11	72945651	72945651	+	Silent	SNP	C	C	T	rs147817701	byFrequency	TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr11:72945651C>T	ENST00000311131.2	+	3	914	c.447C>T	c.(445-447)taC>taT	p.Y149Y	P2RY2_ENST00000393597.2_Silent_p.Y149Y|P2RY2_ENST00000393596.2_Silent_p.Y149Y	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	149					cellular ion homeostasis (GO:0006873)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of mucus secretion (GO:0070257)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	GGGCCCGCTACGCTCGCCGGG	0.697													C|||	29	0.00579073	0.0008	0.0	5008	,	,		14981	0.0		0.002	False		,,,				2504	0.0266															0								C	,,	3,4397	6.2+/-15.9	0,3,2197	37	38	38		447,447,447	-9.3	0.8	11	dbSNP_134	38	12,8572	9.1+/-34.3	0,12,4280	no	coding-synonymous,coding-synonymous,coding-synonymous	P2RY2	NM_002564.2,NM_176071.1,NM_176072.1	,,	0,15,6477	TT,TC,CC		0.1398,0.0682,0.1155	,,	149/378,149/378,149/378	72945651	15,12969	2200	4292	6492	SO:0001819	synonymous_variant	5029			U07225	CCDS8219.1	11q13.5-q14.1	2012-08-08				ENSG00000175591		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	8541	protein-coding gene	gene with protein product		600041				8159738, 9286708	Standard	NM_002564		Approved	P2U	uc001otj.4	P41231		ENST00000311131.2:c.447C>T	11.37:g.72945651C>T			B2R9W3|Q96EM8	Silent	SNP	ENST00000311131.2	37	CCDS8219.1																																																																																				0.697	P2RY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397336.1	NM_176072		T	72945651	C	T	72945651	2	4	720	1	0	0	0	0	0	0	0	1	11354	547	19	1		1	P2RY2	11	72945651	Silent	SNP	C	TCGA-KM-8442-01A-11D-2310-10	16714973	72945651	62060865	47	40400											
MPZL3	196264	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	11	118111082	118111082	+	Silent	SNP	G	G	A	rs565159411		TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr11:118111082G>A	ENST00000278949.4	-	2	139	c.84C>T	c.(82-84)atC>atT	p.I28I	MPZL3_ENST00000525386.1_Intron|MPZL3_ENST00000527472.1_Intron			Q6UWV2	MPZL3_HUMAN	myelin protein zero-like 3	28					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|hair cycle (GO:0042633)	integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		AGGAAAAGACGATATAAACAC	0.388													G|||	1	0.000199681	0.0	0.0	5008	,	,		19877	0.0		0.0	False		,,,				2504	0.001															0													132	116	121					11																	118111082		2200	4296	6496	SO:0001819	synonymous_variant	196264			AK095399	CCDS8392.1, CCDS66241.1	11q23.3	2013-01-11			ENSG00000160588	ENSG00000160588		"Immunoglobulin superfamily / V-set domain containing"	27279	protein-coding gene	gene with protein product		611707				17273165	Standard	NM_198275		Approved		uc001psm.3	Q6UWV2	OTTHUMG00000166966	ENST00000278949.4:c.84C>T	11.37:g.118111082G>A			A8K025|B4DLD5|B4E2I8	Silent	SNP	ENST00000278949.4	37	CCDS8392.1																																																																																				0.388	MPZL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392109.1	NM_198275		A	118111082	G	A	118111082	2	1	720	1	0	0	0	0	0	0	0	1	9753	1048	37	1		1	MPZL3	11	118111082	Silent	SNP	G	TCGA-KM-8442-01A-11D-2310-10	45165431	118111082	16895434	48	40401											
KRT6A	3853	mdanderson.org	37	12	52886641	52886641	+	Missense_Mutation	SNP	C	C	T	rs681063	byFrequency	TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr12:52886641C>T	ENST00000330722.6	-	1	400	c.332G>A	c.(331-333)gGt>gAt	p.G111D		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	111	Head.		G -> D (in dbSNP:rs681063).		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)		ACCACCCAGACCAAAGCCAAT	0.647																																																0													30	33	32					12																	52886641		2200	4271	6471	SO:0001583	missense	3853			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.332G>A	12.37:g.52886641C>T	ENSP00000369317:p.Gly111Asp		A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Missense_Mutation	SNP	ENST00000330722.6	37	CCDS41786.1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.396691	0.42512	.	.	ENSG00000205420	ENST00000330722;ENST00000452121	D	0.97941	-4.62	5.24	5.24	0.73138	.	0.000000	0.50627	D	0.000103	D	0.99048	0.9674	M	0.93328	3.405	0.48452	D	0.999659	D	0.89917	1.0	D	0.71414	0.973	D	0.99116	1.0848	10	0.49607	T	0.09	.	19.2638	0.93979	0.0:1.0:0.0:0.0	rs681063	111	P02538	K2C6A_HUMAN	D	111;67	ENSP00000369317:G111D	ENSP00000369317:G111D	G	-	2	0	KRT6A	51172908	0.999000	0.42202	0.995000	0.50966	0.400000	0.30750	5.876000	0.69667	2.626000	0.88956	0.549000	0.68633	GGT		0.647	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404978.2	NM_005554		T	52886641	C	T	52886641	3	4	720	1	0	0	0	0	1	0	0	0	8482	507	18	2	1398	2	KRT6A	12	52886641	Missense_Mutation	SNP	C	TCGA-KM-8442-01A-11D-2310-10		52886641	80965254	49	40402											
SRGAP1	57522	hgsc.bcm.edu	37	12	64536390	64536390	+	Missense_Mutation	SNP	A	A	C			TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr12:64536390A>C	ENST00000355086.3	+	22	3720	c.3196A>C	c.(3196-3198)Aat>Cat	p.N1066H	SRGAP1_ENST00000357825.3_Missense_Mutation_p.N1043H|SRGAP1_ENST00000543397.1_Missense_Mutation_p.N1003H	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	1066					axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		TCCAAAAACAAATCCTACCAT	0.507																																																0													113	115	115					12																	64536390		2203	4300	6503	SO:0001583	missense	57522			AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"Rho GTPase activating proteins"	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.3196A>C	12.37:g.64536390A>C	ENSP00000347198:p.Asn1066His		Q9H8A3|Q9P2P2	Missense_Mutation	SNP	ENST00000355086.3	37	CCDS8967.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.003655	0.74932	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.32272	1.46;1.46;1.46	5.91	4.75	0.60458	.	0.000000	0.37809	U	0.001926	T	0.36880	0.0983	L	0.38175	1.15	0.43355	D	0.995427	P;P	0.48764	0.511;0.915	B;P	0.53988	0.101;0.739	T	0.03863	-1.0997	9	.	.	.	.	13.3793	0.60759	0.8686:0.1314:0.0:0.0	.	1066;1003	Q7Z6B7;G5EA48	SRGP1_HUMAN;.	H	1066;1043;1003	ENSP00000347198:N1066H;ENSP00000350480:N1043H;ENSP00000437948:N1003H	.	N	+	1	0	SRGAP1	62822657	1.000000	0.71417	0.990000	0.47175	0.964000	0.63967	6.976000	0.76135	1.046000	0.40249	0.379000	0.24179	AAT		0.507	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			C	64536390	A	C	64536390	3	2	720	1	0	0	0	0	1	0	0	0	15150	14	1	5	3282	5	SRGAP1	12	64536390	Missense_Mutation	SNP	A	TCGA-KM-8442-01A-11D-2310-10	11649749	64536390	69315505	50	40403											
C1QTNF9B	387911	ucsc.edu	37	13	24465600	24465600	+	Missense_Mutation	SNP	C	C	T	rs3864969	byFrequency	TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr13:24465600C>T	ENST00000382140.2	-	5	890	c.830G>A	c.(829-831)aGa>aAa	p.R277K	MIPEP_ENST00000469167.1_5'Flank|C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B_ENST00000382145.1_3'UTR|MIPEP_ENST00000382172.3_5'Flank|C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B_ENST00000382137.3_Missense_Mutation_p.R277K|C1QTNF9B_ENST00000556521.1_5'UTR|C1QTNF9B-AS1_ENST00000417034.1_RNA			B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	277	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.					collagen trimer (GO:0005581)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						GTAAGCATCTCTGGTGTGCAG	0.512													T|||	68	0.0135783	0.0348	0.0115	5008	,	,		17990	0.0		0.0089	False		,,,				2504	0.0051															0													124	107	113					13																	24465600		2188	4275	6463	SO:0001583	missense	387911			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.830G>A	13.37:g.24465600C>T	ENSP00000371575:p.Arg277Lys		A2A3T6|B9EH31|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4	Missense_Mutation	SNP	ENST00000382140.2	37	CCDS31947.1	58	0.026556776556776556	31	0.06300813008130081	8	0.022099447513812154	1	0.0017482517482517483	18	0.023746701846965697	t	3.628	-0.076110	0.07184	.	.	ENSG00000205863	ENST00000382137;ENST00000382140	T;T	0.74632	-0.86;-0.86	3.96	3.96	0.45880	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.107337	0.64402	N	0.000004	T	0.06872	0.0175	N	0.02721	-0.515	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.03453	-1.1035	10	0.25751	T	0.34	.	1.5902	0.02653	0.1778:0.0991:0.1595:0.5636	rs3864969;rs52833573;rs3864969	277	B2RNN3	C1T9B_HUMAN	K	277	ENSP00000371572:R277K;ENSP00000371575:R277K	ENSP00000371572:R277K	R	-	2	0	C1QTNF9B	23363600	0.993000	0.37304	0.983000	0.44433	0.120000	0.20174	1.648000	0.37271	0.533000	0.28675	-0.535000	0.04281	AGA		0.512	C1QTNF9B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044162.3	NM_001007537		T	24465600	C	T	24465600	3	4	720	1	0	0	0	0	1	0	0	0	1973	913	32	2	174	2	C1QTNF9B	13	24465600	Missense_Mutation	SNP	C	TCGA-KM-8442-01A-11D-2310-10		24465600	90704278	51	40404											
PRMT5	10419	broad.mit.edu	37	14	23393288	23393288	+	Missense_Mutation	SNP	T	T	C			TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr14:23393288T>C	ENST00000324366.8	-	12	1527	c.1304A>G	c.(1303-1305)gAg>gGg	p.E435G	PRMT5-AS1_ENST00000609885.1_RNA|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5_ENST00000538452.1_Missense_Mutation_p.E329G|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5_ENST00000216350.8_Missense_Mutation_p.E374G|PRMT5_ENST00000397440.4_Missense_Mutation_p.E264G|PRMT5_ENST00000553897.1_Missense_Mutation_p.E391G|PRMT5-AS1_ENST00000457443.2_RNA|PRMT5-AS1_ENST00000599580.2_RNA|PRMT5-AS1_ENST00000424245.2_RNA|PRMT5_ENST00000553641.1_5'Flank|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5_ENST00000397441.2_Missense_Mutation_p.E418G	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	435	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				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)		GCCCAGAAGCTCACTGACAAT	0.532																																																0													106	97	100					14																	23393288		2203	4300	6503	SO:0001583	missense	10419			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.1304A>G	14.37:g.23393288T>C	ENSP00000319169:p.Glu435Gly		A8MTP3|A8MZ91|B4DX49|B4DY30|B5BU10|D3DS33|E2QRE7|Q6IBR1|Q9UKH1	Missense_Mutation	SNP	ENST00000324366.8	37	CCDS9579.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.419250	0.83559	.	.	ENSG00000100462	ENST00000324366;ENST00000397441;ENST00000397440;ENST00000216350;ENST00000555454;ENST00000538452;ENST00000553897	T;T;T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9;1.9;1.9	5.5	5.5	0.81552	.	0.089817	0.85682	D	0.000000	T	0.59797	0.2220	M	0.91196	3.185	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;1.0;0.999;1.0	T	0.69476	-0.5135	10	0.87932	D	0	-22.6753	14.731	0.69383	0.0:0.0:0.0:1.0	.	391;374;264;435;418	G3V5W5;B4DX49;A8MTP3;O14744;A8MZ91	.;.;.;ANM5_HUMAN;.	G	435;418;264;374;34;329;391	ENSP00000319169:E435G;ENSP00000380583:E418G;ENSP00000380582:E264G;ENSP00000216350:E374G;ENSP00000451245:E34G;ENSP00000444915:E329G;ENSP00000452555:E391G	ENSP00000216350:E374G	E	-	2	0	PRMT5	22463128	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	7.304000	0.78882	2.313000	0.78055	0.454000	0.30748	GAG		0.532	PRMT5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071674.3			C	23393288	T	C	23393288	3	2	720	1	0	0	0	0	1	0	0	0	12544	1551	54	3	633	3	PRMT5	14	23393288	Missense_Mutation	SNP	T	TCGA-KM-8442-01A-11D-2310-10		23393288	83956252	52	40405											
AHNAK2	113146	broad.mit.edu	37	14	105412335	105412335	+	Silent	SNP	C	C	T	rs202104959	byFrequency	TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr14:105412335C>T	ENST00000333244.5	-	7	9572	c.9453G>A	c.(9451-9453)ccG>ccA	p.P3151P	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3151						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.P3151P(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)			CCCCGAACGACGGCATCTTGA	0.602																																																1	Substitution - coding silent(1)	endometrium(1)											198	138	157					14																	105412335		1921	4005	5926	SO:0001819	synonymous_variant	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.9453G>A	14.37:g.105412335C>T			Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																				0.602	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		T	105412335	C	T	105412335	2	4	720	1	0	0	0	0	0	0	0	1	415	523	19	1		1	AHNAK2	14	105412335	Silent	SNP	C	TCGA-KM-8442-01A-11D-2310-10	82019047	105412335	1937205	53	40406											
EIF2AK4	440275	broad.mit.edu	37	15	40257897	40257897	+	Silent	SNP	A	A	G			TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr15:40257897A>G	ENST00000263791.5	+	8	913	c.870A>G	c.(868-870)gaA>gaG	p.E290E	EIF2AK4_ENST00000382727.2_Silent_p.E290E|EIF2AK4_ENST00000559624.1_Silent_p.E290E	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	290					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)		GCAGTGATGAACAACTTGGAA	0.418																																																0													170	163	165					15																	40257897		1886	4125	6011	SO:0001819	synonymous_variant	440275			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.870A>G	15.37:g.40257897A>G			C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Silent	SNP	ENST00000263791.5	37	CCDS42016.1																																																																																				0.418	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1			G	40257897	A	G	40257897	2	3	720	1	0	0	0	0	0	0	0	1	5001	40	2	3		3	EIF2AK4	15	40257897	Silent	SNP	A	TCGA-KM-8442-01A-11D-2310-10		40257897	62273495	54	40407											
DPP8	54878	bcgsc.ca	37	15	65743404	65743404	+	Missense_Mutation	SNP	A	A	G			TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr15:65743404A>G	ENST00000341861.5	-	19	4087	c.2507T>C	c.(2506-2508)gTc>gCc	p.V836A	DPP8_ENST00000321118.7_Missense_Mutation_p.V787A|DPP8_ENST00000560048.2_5'UTR|DPP8_ENST00000339244.5_Missense_Mutation_p.V663A|DPP8_ENST00000559233.1_Missense_Mutation_p.V836A|DPP8_ENST00000300141.6_Missense_Mutation_p.V820A|DPP8_ENST00000358939.4_Missense_Mutation_p.V720A|DPP8_ENST00000321147.6_Missense_Mutation_p.V785A	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	836					immune response (GO:0006955)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGCAAAATGGACATTCTCATC	0.363																																																0													136	146	143					15																	65743404		2201	4299	6500	SO:0001583	missense	54878			AF221634	CCDS10207.1, CCDS10208.1, CCDS10209.1, CCDS10210.1	15q22	2008-07-18	2006-01-12		ENSG00000074603	ENSG00000074603			16490	protein-coding gene	gene with protein product	"dipeptidyl peptidase VIII", "dipeptidyl peptidase IV-related protein-1", "prolyl dipeptidase DPP8"	606819	"dipeptidylpeptidase 8"			11012666	Standard	XM_005254500		Approved	DP8, DPRP1, MSTP141, FLJ14920, FLJ20283, MGC26191	uc002aox.3	Q6V1X1	OTTHUMG00000133150	ENST00000341861.5:c.2507T>C	15.37:g.65743404A>G	ENSP00000339208:p.Val836Ala		Q7Z4C8|Q7Z4D3|Q7Z4E1|Q8IWG7|Q8NEM5|Q96JX1|Q9HBM2|Q9HBM3|Q9HBM4|Q9HBM5|Q9NXF4	Missense_Mutation	SNP	ENST00000341861.5	37	CCDS10207.1	.	.	.	.	.	.	.	.	.	.	A	20.0	3.930737	0.73327	.	.	ENSG00000074603	ENST00000341861;ENST00000358939;ENST00000300141;ENST00000321147;ENST00000321118;ENST00000339244	T;T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78;0.78	5.31	5.31	0.75309	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.000000	0.64402	D	0.000006	T	0.73210	0.3558	M	0.89478	3.035	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;0.99;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.98;1.0;1.0	T	0.79420	-0.1811	10	0.87932	D	0	-14.4712	14.4796	0.67573	1.0:0.0:0.0:0.0	.	787;820;720;785;836	Q6V1X1-5;Q6V1X1-3;Q6V1X1-4;Q6V1X1-2;Q6V1X1	.;.;.;.;DPP8_HUMAN	A	836;720;820;785;787;663	ENSP00000339208:V836A;ENSP00000351817:V720A;ENSP00000300141:V820A;ENSP00000318111:V785A;ENSP00000316373:V787A;ENSP00000341230:V663A	ENSP00000300141:V820A	V	-	2	0	DPP8	63530457	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.332000	0.96446	2.009000	0.58944	0.528000	0.53228	GTC		0.363	DPP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256847.1	NM_017743		G	65743404	A	G	65743404	3	3	720	1	0	0	0	0	1	0	0	0	4734	275	10	3	197	3	DPP8	15	65743404	Missense_Mutation	SNP	A	TCGA-KM-8442-01A-11D-2310-10	25485507	65743404	36787988	55	40408											
ADAMTS7	11173	ucsc.edu;mdanderson.org	37	15	79092750	79092750	+	Silent	SNP	G	G	C	rs7173267	byFrequency	TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr15:79092750G>C	ENST00000388820.4	-	2	450	c.240C>G	c.(238-240)gcC>gcG	p.A80A	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	80					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						GCTCGTAGAAGGCGGGCGCGT	0.692													G|||	1245	0.248602	0.1044	0.2968	5008	,	,		12618	0.1518		0.4284	False		,,,				2504	0.3241															0								G		628,3716		55,518,1599	11	12	11		240	1.1	0.9	15	dbSNP_116	11	3580,4914		781,2018,1448	no	coding-synonymous	ADAMTS7	NM_014272.3		836,2536,3047	CC,CG,GG		42.1474,14.4567,32.7777		80/1687	79092750	4208,8630	2172	4247	6419	SO:0001819	synonymous_variant	11173			AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"ADAM metallopeptidases with thrombospondin type 1 motif"	223	protein-coding gene	gene with protein product	"COMPase", "a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"	605009	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.240C>G	15.37:g.79092750G>C			Q14F51|Q6P7J9	Silent	SNP	ENST00000388820.4	37	CCDS32303.1																																																																																				0.692	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		C	79092750	G	C	79092750	2	2	720	1	0	0	0	0	0	0	0	1	271	987	35	4		4	ADAMTS7	15	79092750	Silent	SNP	G	TCGA-KM-8442-01A-11D-2310-10	13349346	79092750	23438642	56	40409											
FSD2	123722	broad.mit.edu;mdanderson.org	37	15	83451563	83451563	+	Missense_Mutation	SNP	T	T	C			TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr15:83451563T>C	ENST00000334574.8	-	4	1131	c.950A>G	c.(949-951)aAg>aGg	p.K317R	FSD2_ENST00000541889.1_Missense_Mutation_p.K317R			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	317										breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						GAAATCCACCTTCTCCTCGTG	0.378																																																0													266	253	257					15																	83451563		1926	4125	6051	SO:0001583	missense	123722			AK122875	CCDS45332.1, CCDS61738.1	15q25.2	2013-02-11	2006-01-11	2006-01-11		ENSG00000186628		"Fibronectin type III domain containing"	18024	protein-coding gene	gene with protein product			"SPRY domain containing 1"	SPRYD1			Standard	NM_001007122		Approved	RP11-127F21	uc002bjd.2	A1L4K1		ENST00000334574.8:c.950A>G	15.37:g.83451563T>C	ENSP00000335651:p.Lys317Arg		B3KVG1|B7ZM02	Missense_Mutation	SNP	ENST00000334574.8	37	CCDS45332.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.211095	0.79240	.	.	ENSG00000186628	ENST00000334574;ENST00000541889	T;T	0.63580	0.43;-0.05	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.74382	0.3709	L	0.50333	1.59	0.37277	D	0.907671	P;D	0.89917	0.624;1.0	P;D	0.83275	0.599;0.996	T	0.76217	-0.3040	10	0.38643	T	0.18	-49.0724	15.7575	0.78046	0.0:0.0:0.0:1.0	.	317;317	B7ZM02;A1L4K1	.;FSD2_HUMAN	R	317	ENSP00000335651:K317R;ENSP00000444078:K317R	ENSP00000335651:K317R	K	-	2	0	FSD2	81248617	1.000000	0.71417	0.994000	0.49952	0.805000	0.45488	6.684000	0.74538	2.317000	0.78254	0.459000	0.35465	AAG		0.378	FSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418385.1	NM_001007122		C	83451563	T	C	83451563	3	2	720	1	0	0	0	0	1	0	0	0	6073	1609	56	3	1339	3	FSD2	15	83451563	Missense_Mutation	SNP	T	TCGA-KM-8442-01A-11D-2310-10	4358813	83451563	19079829	57	40410											
WFIKKN1	117166	mdanderson.org	37	16	681284	681284	+	Silent	SNP	C	C	T	rs8062289	byFrequency	TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr16:681284C>T	ENST00000319070.2	+	1	353	c.31C>T	c.(31-33)Ctg>Ttg	p.L11L		NM_053284.2	NP_444514.1	Q96NZ8	WFKN1_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1	11					muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|prostate(1)|upper_aerodigestive_tract(1)	4		Hepatocellular(780;0.00335)				CCTGCCGCTCCTGCTCCTCCT	0.741													c|||	1093	0.218251	0.3986	0.0965	5008	,	,		11117	0.0357		0.1859	False		,,,				2504	0.2822															0										1488,2824		287,914,955	10	11	11		31	0.8	0	16	dbSNP_116	11	1579,6943		165,1249,2847	no	coding-synonymous	WFIKKN1	NM_053284.2		452,2163,3802	TT,TC,CC		18.5285,34.5083,23.8975		11/549	681284	3067,9767	2156	4261	6417	SO:0001819	synonymous_variant	117166			AK075356	CCDS10414.1	16p13	2013-01-21			ENSG00000127578	ENSG00000127578		"Immunoglobulin superfamily / I-set domain containing", "WAP four-disulfide core domain containing"	30912	protein-coding gene	gene with protein product	"WAP four-disulfide core domain 20A"	608021	"chromosome 16 open reading frame 12"	C16orf12		11274388, 11928817	Standard	NM_053284		Approved	RJD2, WFIKKN, WFDC20A	uc002cht.1	Q96NZ8	OTTHUMG00000090359	ENST00000319070.2:c.31C>T	16.37:g.681284C>T			Q7LDW0|Q8NBQ1|Q96S20	Silent	SNP	ENST00000319070.2	37	CCDS10414.1																																																																																				0.741	WFIKKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206731.2	NM_053284		T	681284	C	T	681284	2	4	720	1	0	0	0	0	0	0	0	1	17363	680	24	2		2	WFIKKN1	16	681284	Silent	SNP	C	TCGA-KM-8442-01A-11D-2310-10		681284	89673469	58	40411											
CACNA1H	8912	mdanderson.org	37	16	1252259	1252259	+	Silent	SNP	A	A	G	rs9934839	byFrequency	TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr16:1252259A>G	ENST00000348261.5	+	9	2057	c.1809A>G	c.(1807-1809)agA>agG	p.R603R	CACNA1H_ENST00000565831.1_Silent_p.R603R|CACNA1H_ENST00000358590.4_Silent_p.R603R	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	603					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)	CCAGCCTCAGACTGGCCACAG	0.677													G|||	1986	0.396565	0.5877	0.379	5008	,	,		14978	0.119		0.4901	False		,,,				2504	0.3405															0			GRCh37	CM071579	CACNA1H	M	rs9934839	G	,	2248,1408		734,780,314	5	6	6		1809,1809	2.3	0.9	16	dbSNP_119	6	4058,3834		1155,1748,1043	no	coding-synonymous,coding-synonymous	CACNA1H	NM_001005407.1,NM_021098.2	,	1889,2528,1357	GG,GA,AA		48.5808,38.512,45.3931	,	603/2348,603/2354	1252259	6306,5242	1828	3946	5774	SO:0001819	synonymous_variant	8912			AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.1809A>G	16.37:g.1252259A>G			B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Silent	SNP	ENST00000348261.5	37	CCDS45375.1																																																																																				0.677	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		G	1252259	A	G	1252259	2	3	720	1	0	0	0	0	0	0	0	1	2547	272	10	3		3	CACNA1H	16	1252259	Silent	SNP	A	TCGA-KM-8442-01A-11D-2310-10	570975	1252259	89102494	59	40412											
NME3	4832	mdanderson.org	37	16	1820992	1820992	+	Silent	SNP	T	T	A	rs11890	byFrequency	TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr16:1820992T>A	ENST00000219302.3	-	4	477	c.282A>T	c.(280-282)gtA>gtT	p.V94V	EME2_ENST00000307394.7_5'Flank|NME3_ENST00000563498.1_Silent_p.V10V|EME2_ENST00000568449.1_5'Flank	NM_002513.2	NP_002504.2	Q13232	NDK3_HUMAN	NME/NM23 nucleoside diphosphate kinase 3	94					apoptotic process (GO:0006915)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|UTP biosynthetic process (GO:0006228)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside diphosphate kinase activity (GO:0004550)			lung(1)	1						GCCCCTGCCATACCTGTGCGG	0.741													T|||	3824	0.763578	0.848	0.8761	5008	,	,		10226	0.6369		0.7903	False		,,,				2504	0.6728															0								T		3531,581		1515,501,40	9	12	11		282	1.4	1	16	dbSNP_52	11	6820,1398		2822,1176,111	no	coding-synonymous	NME3	NM_002513.2		4337,1677,151	AA,AT,TT		17.0114,14.1294,16.0503		94/170	1820992	10351,1979	2056	4109	6165	SO:0001819	synonymous_variant	4832			U29656	CCDS10443.1	16q13.3	2013-04-29	2012-05-18		ENSG00000103024	ENSG00000103024			7851	protein-coding gene	gene with protein product		601817	"non-metastatic cells 3, protein expressed in"			9067290, 19852809	Standard	NM_002513		Approved	DR-nm23, NM23-H3, NDPKC	uc002cmm.3	Q13232	OTTHUMG00000128635	ENST00000219302.3:c.282A>T	16.37:g.1820992T>A			Q9BWH4	Silent	SNP	ENST00000219302.3	37	CCDS10443.1																																																																																				0.741	NME3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250505.2	NM_002513		A	1820992	T	A	1820992	2	1	720	1	0	0	0	0	0	0	0	1	10494	1393	49	5		5	NME3	16	1820992	Silent	SNP	T	TCGA-KM-8442-01A-11D-2310-10	568733	1820992	88533761	60	40413											
KRTAP4-3	85290	mdanderson.org	37	17	39324139	39324139	+	Silent	SNP	T	T	G	rs12603046		TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr17:39324139T>G	ENST00000391356.2	-	1	285	c.286A>C	c.(286-288)Agg>Cgg	p.R96R		NM_033187.1	NP_149443.1	Q9BYR4	KRA43_HUMAN	keratin associated protein 4-3	96	29 X 5 AA repeats of C-C-[GIKRQVH]-[SPT]- [STA].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			CAGGTGGTCCTgcagcagctg	0.612																																																0													8	11	10					17																	39324139		2005	4178	6183	SO:0001819	synonymous_variant	85290			AJ406935	CCDS42331.1	17q21.2	2013-06-25			ENSG00000196156	ENSG00000196156		"Keratin associated proteins"	18908	protein-coding gene	gene with protein product							Standard	NM_033187		Approved	KAP4.3	uc010cxl.3	Q9BYR4	OTTHUMG00000133639	ENST00000391356.2:c.286A>C	17.37:g.39324139T>G				Silent	SNP	ENST00000391356.2	37	CCDS42331.1																																																																																				0.612	KRTAP4-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257784.1			G	39324139	T	G	39324139	2	3	720	1	0	0	0	0	0	0	0	1	8554	1579	55	5		5	KRTAP4-3	17	39324139	Silent	SNP	T	TCGA-KM-8442-01A-11D-2310-10		39324139	41871071	61	40414											
GFAP	2670	ucsc.edu	37	17	42985455	42985455	+	Missense_Mutation	SNP	T	T	C			TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr17:42985455T>C	ENST00000253408.5	-	8	1299	c.1234A>G	c.(1234-1236)Acc>Gcc	p.T412A	GFAP_ENST00000588735.1_Missense_Mutation_p.T38A	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	412	Tail.				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)				ATCTCCACGGTCTTCACCACG	0.587																																																0													233	199	211					17																	42985455		2203	4300	6503	SO:0001583	missense	2670			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.1234A>G	17.37:g.42985455T>C	ENSP00000253408:p.Thr412Ala		B2RD44|D3DX59|E9PAX3|Q53H98|Q5D055|Q6ZQS3|Q7Z5J6|Q7Z5J7|Q96KS4|Q96P18|Q9UFD0	Missense_Mutation	SNP	ENST00000253408.5	37	CCDS11491.1	.	.	.	.	.	.	.	.	.	.	T	26.7	4.766810	0.90020	.	.	ENSG00000131095	ENST00000253408;ENST00000421021	D	0.99515	-6.06	5.13	5.13	0.70059	.	0.058374	0.64402	D	0.000002	D	0.99281	0.9749	M	0.80847	2.515	0.80722	D	1	P	0.34837	0.472	P	0.48089	0.566	D	0.99376	1.0921	10	0.87932	D	0	.	15.1002	0.72269	0.0:0.0:0.0:1.0	.	412	P14136	GFAP_HUMAN	A	412;387	ENSP00000253408:T412A	ENSP00000253408:T412A	T	-	1	0	GFAP	40340981	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	5.782000	0.68973	2.163000	0.67991	0.448000	0.29417	ACC		0.587	GFAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448701.1	NM_002055		C	42985455	T	C	42985455	3	2	720	1	0	0	0	0	1	0	0	0	6339	1667	58	3	72	3	GFAP	17	42985455	Missense_Mutation	SNP	T	TCGA-KM-8442-01A-11D-2310-10	3661316	42985455	38209755	62	40415											
TCF3	6929	mdanderson.org	37	19	1622116	1622116	+	Silent	SNP	G	G	A	rs2240590	byFrequency	TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr19:1622116G>A	ENST00000262965.5	-	10	1103	c.759C>T	c.(757-759)agC>agT	p.S253S	TCF3_ENST00000395423.3_Silent_p.S202S|TCF3_ENST00000588136.1_Silent_p.S253S|TCF3_ENST00000344749.5_Silent_p.S253S|TCF3_ENST00000453954.2_Silent_p.S169S	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)		CCACCGGGCCGCTACCGGGCG	0.741			T	"PBX1, HLF, TFPT"	pre B-ALL								g|||	1698	0.339058	0.593	0.2925	5008	,	,		10107	0.244		0.1163	False		,,,				2504	0.3558						Dom	yes		19	19p13.3	6929	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)		L	0								G	,	1908,2318		433,1042,638	6	7	7		759,759	2.7	0.2	19	dbSNP_98	7	1001,7343		85,831,3256	no	coding-synonymous,coding-synonymous	TCF3	NM_001136139.2,NM_003200.3	,	518,1873,3894	AA,AG,GG		11.9966,45.1491,23.1424	,	253/652,253/655	1622116	2909,9661	2113	4172	6285	SO:0001819	synonymous_variant	6929			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.759C>T	19.37:g.1622116G>A			Q53R97|Q6PD70|Q9NP00	Silent	SNP	ENST00000262965.5	37	CCDS12074.1																																																																																				0.741	TCF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449367.1	NM_003200		A	1622116	G	A	1622116	2	1	720	1	0	0	0	0	0	0	0	1	15699	1078	38	1		1	TCF3	19	1622116	Silent	SNP	G	TCGA-KM-8442-01A-11D-2310-10		1622116	57506867	63	40416											
IL12RB1	3594	mdanderson.org;bcgsc.ca	37	19	18188408	18188408	+	Missense_Mutation	SNP	C	C	T	rs11575926	byFrequency	TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr19:18188408C>T	ENST00000600835.2	-	6	765	c.467G>A	c.(466-468)cGt>cAt	p.R156H	IL12RB1_ENST00000322153.7_Missense_Mutation_p.R156H|IL12RB1_ENST00000593993.2_Missense_Mutation_p.R156H			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	156	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.		R -> H (in dbSNP:rs11575926). {ECO:0000269|Ref.3}.		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						CCACTCCATACGCAGCTGCCC	0.582													C|||	280	0.0559105	0.0068	0.0692	5008	,	,		16517	0.001		0.1551	False		,,,				2504	0.0675															0								C	HIS/ARG,HIS/ARG	158,4248	107.8+/-146.2	3,152,2048	65	54	58		467,467	-7.8	0	19	dbSNP_120	58	1494,7106	283.3+/-296.1	127,1240,2933	no	missense,missense	IL12RB1	NM_005535.1,NM_153701.1	29,29	130,1392,4981	TT,TC,CC		17.3721,3.586,12.7018	benign,benign	156/663,156/382	18188408	1652,11354	2203	4300	6503	SO:0001583	missense	3594			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.467G>A	19.37:g.18188408C>T	ENSP00000470788:p.Arg156His		A8K308|B2RPF1|B7ZKK3|Q8N6Q7	Missense_Mutation	SNP	ENST00000600835.2	37	CCDS54232.1	146	0.06684981684981685	2	0.0040650406504065045	26	0.0718232044198895	1	0.0017482517482517483	117	0.15435356200527706	C	9.619	1.133424	0.21041	0.03586	0.173721	ENSG00000096996	ENST00000430026;ENST00000322153	T;D	0.85955	-1.49;-2.05	3.9	-7.79	0.01218	Immunoglobulin-like fold (1);	1.817980	0.03453	N	0.210996	T	0.00440	0.0014	L	0.29908	0.895	0.09310	N	1	B;B;B	0.29862	0.025;0.259;0.014	B;B;B	0.17433	0.007;0.018;0.003	T	0.18023	-1.0350	10	0.30854	T	0.27	-1.1907	6.7248	0.23350	0.6568:0.1478:0.0:0.1953	rs11575926;rs17884715	156;156;156	P42701-2;P42701-3;P42701	.;.;I12R1_HUMAN	H	156	ENSP00000403103:R156H;ENSP00000314425:R156H	ENSP00000314425:R156H	R	-	2	0	IL12RB1	18049408	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	-1.507000	0.02268	-1.510000	0.01796	-0.302000	0.09304	CGT		0.582	IL12RB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466525.3			T	18188408	C	T	18188408	3	4	720	1	0	0	0	0	1	0	0	0	7628	536	19	1	1702	1	IL12RB1	19	18188408	Missense_Mutation	SNP	C	TCGA-KM-8442-01A-11D-2310-10	16566292	18188408	40940575	64	40417											
FCGBP	8857	broad.mit.edu	37	19	40380652	40380652	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr19:40380652delA	ENST00000221347.6	-	23	10670	c.10663delT	c.(10663-10665)tgcfs	p.C3555fs	FCGBP_ENST00000595713.1_5'Flank	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	3555	Cys-rich.|TIL 8.					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)			AGGCTCGGGCAGCTCCCAGGA	0.637																																																0													1	2	2					19																	40380652		246	1429	1675	SO:0001589	frameshift_variant	8857			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.10663delT	19.37:g.40380652delA	ENSP00000221347:p.Cys3555fs		O95784	Frame_Shift_Del	DEL	ENST00000221347.6	37	CCDS12546.1																																																																																				0.637	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		-	40380652	A	-	40380652	7	5	720	1	0	1	0	1	0	0	0	0	5780	188	7	0	5610	0	FCGBP	19	40380652	Frame_Shift_Del	DEL	A	TCGA-KM-8442-01A-11D-2310-10	22192244	40380652	18748331	65	40418											
MAP3K10	4294	hgsc.bcm.edu;ucsc.edu	37	19	40719458	40719458	+	Silent	SNP	C	C	T			TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr19:40719458C>T	ENST00000253055.3	+	9	2160	c.1872C>T	c.(1870-1872)agC>agT	p.S624S		NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	624					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						GAGGCAGCAGCGTGCCCCCTT	0.726																																																0													16	18	17					19																	40719458		2200	4293	6493	SO:0001819	synonymous_variant	4294			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.1872C>T	19.37:g.40719458C>T			Q12761|Q14871	Silent	SNP	ENST00000253055.3	37	CCDS12549.1																																																																																				0.726	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462552.1	NM_002446		T	40719458	C	T	40719458	2	4	720	1	0	0	0	0	0	0	0	1	9246	767	27	1		1	MAP3K10	19	40719458	Silent	SNP	C	TCGA-KM-8442-01A-11D-2310-10	338806	40719458	18409525	66	40419											
CYP2A6	1548	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	19	41354576	41354576	+	Missense_Mutation	SNP	C	C	T	rs200793736		TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr19:41354576C>T	ENST00000301141.5	-	3	456	c.436G>A	c.(436-438)Gag>Aag	p.E146K	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	146					coumarin catabolic process (GO:0046226)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum membrane (GO:0005789)	coumarin 7-hydroxylase activity (GO:0008389)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|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(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Acetaminophen(DB00316)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amobarbital(DB01351)|Amphetamine(DB00182)|Antipyrine(DB01435)|Arformoterol(DB01274)|Azelastine(DB00972)|Azithromycin(DB00207)|Buprenorphine(DB00921)|Bupropion(DB01156)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Cisapride(DB00604)|Clofibrate(DB00636)|Clomifene(DB00882)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Dapagliflozin(DB06292)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Diethylstilbestrol(DB00255)|Dronabinol(DB00470)|Eletriptan(DB00216)|Ezogabine(DB04953)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Flurazepam(DB00690)|Fomepizole(DB01213)|Formoterol(DB00983)|Halothane(DB01159)|Ifosfamide(DB01181)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Letrozole(DB01006)|Lidocaine(DB00281)|Lorcaserin(DB04871)|Memantine(DB01043)|Menadione(DB00170)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Miconazole(DB01110)|Montelukast(DB00471)|Nevirapine(DB00238)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Norfloxacin(DB01059)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Prednisolone(DB00860)|Progesterone(DB00396)|Propofol(DB00818)|Rifampicin(DB01045)|Rosiglitazone(DB00412)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tranylcypromine(DB00752)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Zidovudine(DB00495)	ATGCGCTCCTCGATGCCTCGC	0.692													.|||	1	0.000199681	0.0	0.0	5008	,	,		14358	0.0		0.001	False		,,,				2504	0.0															0													39	42	41					19																	41354576		2203	4299	6502	SO:0001583	missense	1548			AF182275	CCDS12568.1	19q13.2	2013-11-11	2003-01-14		ENSG00000255974	ENSG00000255974		"Cytochrome P450s"	2610	protein-coding gene	gene with protein product		122720	"cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 6"	CYP2A3		7668294, 2748347	Standard	NM_000762		Approved	CPA6, CYP2A	uc002opl.4	P11509	OTTHUMG00000182713	ENST00000301141.5:c.436G>A	19.37:g.41354576C>T	ENSP00000301141:p.Glu146Lys		A7YAE5|B2R7F6|P00190|P10890|Q16803|Q4VAT9|Q4VAU0|Q4VAU1|Q9H1Z7|Q9UCU0|Q9UK48	Missense_Mutation	SNP	ENST00000301141.5	37	CCDS12568.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	-	22.0	4.226482	0.79576	.	.	ENSG00000255974	ENST00000301141	T	0.71934	-0.61	2.95	0.646	0.17789	.	0.000000	0.85682	U	0.000000	T	0.75459	0.3852	M	0.88512	2.96	0.34218	D	0.675097	D	0.60575	0.988	P	0.49451	0.611	T	0.79543	-0.1760	10	0.87932	D	0	.	6.8491	0.24005	0.0:0.714:0.1771:0.1089	.	146	P11509	CP2A6_HUMAN	K	146	ENSP00000301141:E146K	ENSP00000301141:E146K	E	-	1	0	CYP2A6	46046416	0.919000	0.31177	0.236000	0.24074	0.340000	0.28889	2.445000	0.44899	0.023000	0.15187	-0.544000	0.04233	GAG		0.692	CYP2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463259.1	NM_000762		T	41354576	C	T	41354576	3	4	720	1	0	0	0	0	1	0	0	0	4164	893	31	1	1076	1	CYP2A6	19	41354576	Missense_Mutation	SNP	C	TCGA-KM-8442-01A-11D-2310-10	635118	41354576	17774407	67	40420											
C20orf166	128826	mdanderson.org	37	20	61162267	61162267	+	Missense_Mutation	SNP	T	T	C	rs6062251	byFrequency	TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr20:61162267T>C	ENST00000370527.3	+	3	859	c.80T>C	c.(79-81)gTg>gCg	p.V27A	C20orf166_ENST00000370524.2_Intron|C20orf166_ENST00000370523.1_Intron|MIR133A2_ENST00000347538.2_RNA	NM_178463.3	NP_848558.1			chromosome 20 open reading frame 166											endometrium(1)|kidney(1)|lung(2)	4	Breast(26;1.04e-08)		BRCA - Breast invasive adenocarcinoma(19;7.17e-06)			ACCCAGCAGGTGGCGCGGGGA	0.677													C|||	2888	0.576677	0.7042	0.5605	5008	,	,		12968	0.3284		0.6243	False		,,,				2504	0.6227															0								C	ALA/VAL	2917,1443		1016,885,279	11	12	12		80	-7.9	0	20	dbSNP_114	12	5233,3313		1652,1929,692	yes	missense	C20orf166	NM_178463.3	64	2668,2814,971	CC,CT,TT		38.7667,33.0963,36.8511	benign	27/118	61162267	8150,4756	2180	4273	6453	SO:0001583	missense	128826			AL449263	CCDS46627.1	20q13.33	2014-01-21			ENSG00000174407	ENSG00000174407			16159	protein-coding gene	gene with protein product	"MIR133A2 host gene"						Standard	NM_178463		Approved	dJ353C17.1, MIR1-1HG, MIR133A2HG	uc011aaj.2	Q9H1L0	OTTHUMG00000048000	ENST00000370527.3:c.80T>C	20.37:g.61162267T>C	ENSP00000359558:p.Val27Ala			Missense_Mutation	SNP	ENST00000370527.3	37	CCDS46627.1	1208	0.5531135531135531	341	0.693089430894309	211	0.5828729281767956	191	0.3339160839160839	465	0.6134564643799473	C	9.871	1.198845	0.22121	0.669037	0.612333	ENSG00000174407	ENST00000370527	T	0.36520	1.25	3.93	-7.86	0.01187	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.39522	-0.9610	8	0.09084	T	0.74	.	3.8336	0.08885	0.2485:0.1229:0.4735:0.1551	rs6062251;rs7268727	27	Q9H1L0	CT166_HUMAN	A	27	ENSP00000359558:V27A	ENSP00000359558:V27A	V	+	2	0	C20orf166	60572712	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-2.298000	0.01140	-1.689000	0.01434	-0.320000	0.08662	GTG		0.677	C20orf166-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109262.1	NM_178463		C	61162267	T	C	61162267	3	2	720	1	0	0	0	0	1	0	0	0	2097	1696	59	3	86	3	C20orf166	20	61162267	Missense_Mutation	SNP	T	TCGA-KM-8442-01A-11D-2310-10		61162267	1863253	68	40421											
PRIC285	85441	mdanderson.org	37	20	62195087	62195087	+	Silent	SNP	A	A	G	rs310630	byFrequency	TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr20:62195087A>G	ENST00000467148.1	-	8	5157	c.5088T>C	c.(5086-5088)tcT>tcC	p.S1696S	HELZ2_ENST00000427522.2_Silent_p.S1127S	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	1696					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)										CAGAGTAGGCAGAGCCCCCAT	0.677													G|||	2264	0.452077	0.7141	0.4409	5008	,	,		15038	0.1567		0.4732	False		,,,				2504	0.3885															0								G	,	2906,1454		977,952,251	13	14	14		5088,3381	-2.3	0	20	dbSNP_79	14	3958,4606		948,2062,1272	no	coding-synonymous,coding-synonymous	PRIC285	NM_001037335.2,NM_033405.3	,	1925,3014,1523	GG,GA,AA		46.2167,33.3486,46.8895	,	1696/2650,1127/2081	62195087	6864,6060	2180	4282	6462	SO:0001819	synonymous_variant	85441			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.5088T>C	20.37:g.62195087A>G			Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	ENST00000467148.1	37	CCDS33508.1																																																																																				0.677	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		G	62195087	A	G	62195087	2	3	720	1	0	0	0	0	0	0	0	1	12490	175	7	3		3	PRIC285	20	62195087	Silent	SNP	A	TCGA-KM-8442-01A-11D-2310-10	1032820	62195087	830433	69	40422											
BAGE2	85319	mdanderson.org	37	21	11058197	11058197	+	RNA	SNP	G	G	A			TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr21:11058197G>A	ENST00000470054.1	-	0	450							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)		TCTGGACAAAGCAGGAAGATG	0.393																																																0													87	71	76					21																	11058197		692	1591	2283			85319			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.11058197G>A			A8K925|Q08ER0	Silent	SNP	ENST00000470054.1	37																																																																																					0.393	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		A	11058197	G	A	11058197	1	1	720	0	1	0	0	0	0	0	0	0	1292	963	34	2		2	BAGE2	21	11058197	RNA	SNP	G	TCGA-KM-8442-01A-11D-2310-10		11058197	37071698	70	40423											
SON	6651	broad.mit.edu	37	21	34927419	34927420	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr21:34927419_34927420insC	ENST00000356577.4	+	3	6357_6358	c.5882_5883insC	c.(5881-5886)agccgcfs	p.R1962fs	SON_ENST00000300278.4_Frame_Shift_Ins_p.R1962fs|SON_ENST00000290239.6_Frame_Shift_Ins_p.R1962fs|SON_ENST00000381679.4_Frame_Shift_Ins_p.R1962fs|SON_ENST00000381692.2_Intron	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	1962	2 X 19 AA repeats of P-S-R-R-R-R-S-R-S-V- V-R-R-R-S-F-S-I-S.|7 X 7 AA repeats of P-S-R-R-S-R-[TS].				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						cgcacccccagccgccgcagcc	0.713																																																0																																										SO:0001589	frameshift_variant	6651			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.5884dupC	21.37:g.34927421_34927421dupC	ENSP00000348984:p.Arg1962fs		D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Frame_Shift_Ins	INS	ENST00000356577.4	37	CCDS13629.1																																																																																				0.713	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		C	34927420	-	C	34927419	7	5	720	1	0	1	1	0	0	0	0	0	14932	971	34	0	5892	0	SON	21	34927419	Frame_Shift_Ins	INS	-	TCGA-KM-8442-01A-11D-2310-10	23869222	34927419	13202476	71	40424											
DGCR8	54487	broad.mit.edu	37	22	20094117	20094117	+	Missense_Mutation	SNP	A	A	G			TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr22:20094117A>G	ENST00000351989.3	+	11	2321	c.1892A>G	c.(1891-1893)aAc>aGc	p.N631S	DGCR8_ENST00000383024.2_Missense_Mutation_p.N598S|DGCR8_ENST00000407755.1_Missense_Mutation_p.N598S	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	631	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.|Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.				gene expression (GO:0010467)|primary miRNA processing (GO:0031053)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					TCTTAAAGAAACCATGGGATG	0.532																																																0													106	103	104					22																	20094117		2203	4300	6503	SO:0001583	missense	54487			AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191			2847	protein-coding gene	gene with protein product		609030	"chromosome 22 open reading frame 12", "DiGeorge syndrome critical region gene 8"	C22orf12		21454614	Standard	NM_001190326		Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.1892A>G	22.37:g.20094117A>G	ENSP00000263209:p.Asn631Ser		B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Missense_Mutation	SNP	ENST00000351989.3	37	CCDS13773.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.093845	0.76870	.	.	ENSG00000128191	ENST00000351989;ENST00000383024;ENST00000407755	T;T;T	0.77229	-1.08;-1.08;-1.08	4.97	4.97	0.65823	Double-stranded RNA-binding (2);	0.000000	0.85682	D	0.000000	D	0.83755	0.5323	L	0.48642	1.525	0.80722	D	1	D;D	0.67145	0.996;0.987	D;D	0.77557	0.99;0.931	D	0.85377	0.1117	10	0.72032	D	0.01	-23.0085	13.7567	0.62942	1.0:0.0:0.0:0.0	.	598;631	Q8WYQ5-3;Q8WYQ5	.;DGCR8_HUMAN	S	631;598;598	ENSP00000263209:N631S;ENSP00000372488:N598S;ENSP00000384726:N598S	ENSP00000263209:N631S	N	+	2	0	DGCR8	18474117	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	8.420000	0.90256	2.084000	0.62774	0.383000	0.25322	AAC		0.532	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318654.1			G	20094117	A	G	20094117	3	3	720	1	0	0	0	0	1	0	0	0	4466	43	2	3	1930	3	DGCR8	22	20094117	Missense_Mutation	SNP	A	TCGA-KM-8442-01A-11D-2310-10		20094117	31210449	72	40425											
PIWIL3	440822	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	22	25124310	25124310	+	Missense_Mutation	SNP	C	C	T	rs574938118		TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr22:25124310C>T	ENST00000332271.5	-	15	2182	c.1766G>A	c.(1765-1767)cGt>cAt	p.R589H	PIWIL3_ENST00000527701.1_Missense_Mutation_p.R471H|PIWIL3_ENST00000533313.1_Missense_Mutation_p.R471H|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	589	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.		R -> C (in dbSNP:rs738826).		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						GTCATATCTACGTTTGTCATC	0.403													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18874	0.0		0.0	False		,,,				2504	0.0															0													158	145	150					22																	25124310		2203	4300	6503	SO:0001583	missense	440822			AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"Argonaute/PIWI family"	18443	protein-coding gene	gene with protein product		610314	"piwi-like 3 (Drosophila)"			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.1766G>A	22.37:g.25124310C>T	ENSP00000330031:p.Arg589His			Missense_Mutation	SNP	ENST00000332271.5	37	CCDS33623.1	.	.	.	.	.	.	.	.	.	.	C	10.29	1.309628	0.23821	.	.	ENSG00000184571	ENST00000332271;ENST00000533313;ENST00000527701	T;T;T	0.29655	1.56;1.56;1.56	2.71	0.392	0.16288	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.394272	0.26352	N	0.024871	T	0.13457	0.0326	N	0.17631	0.505	0.19575	N	0.999967	P;B;B	0.35700	0.516;0.0;0.0	B;B;B	0.22152	0.038;0.0;0.0	T	0.13683	-1.0500	10	0.72032	D	0.01	0.0032	5.9588	0.19289	0.0:0.2603:0.0:0.7397	.	471;580;589	E9PIP6;B4DYF7;Q7Z3Z3	.;.;PIWL3_HUMAN	H	589;471;471	ENSP00000330031:R589H;ENSP00000431843:R471H;ENSP00000435718:R471H	ENSP00000330031:R589H	R	-	2	0	PIWIL3	23454310	0.960000	0.32886	0.000000	0.03702	0.001000	0.01503	1.185000	0.32065	-0.076000	0.12775	-0.458000	0.05436	CGT		0.403	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2	NM_001008496		T	25124310	C	T	25124310	3	4	720	1	0	0	0	0	1	0	0	0	11961	536	19	1	910	1	PIWIL3	22	25124310	Missense_Mutation	SNP	C	TCGA-KM-8442-01A-11D-2310-10	5030193	25124310	26180256	73	40426											
MOV10L1	54456	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	22	50581577	50581577	+	Missense_Mutation	SNP	G	G	A	rs140536899		TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr22:50581577G>A	ENST00000262794.5	+	17	2368	c.2285G>A	c.(2284-2286)cGt>cAt	p.R762H	MOV10L1_ENST00000540615.1_Missense_Mutation_p.R742H|MOV10L1_ENST00000545383.1_Missense_Mutation_p.R762H|MOV10L1_ENST00000395858.3_Missense_Mutation_p.R762H|MOV10L1_ENST00000395843.1_5'UTR	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	762					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)		GGTGACTGCCGTCCCCTCCCG	0.468																																																0								G	HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	132	139	136		2285,2225,2285	5.6	1	22	dbSNP_134	136	0,8600		0,0,4300	no	missense,missense,missense	MOV10L1	NM_001164104.1,NM_001164105.1,NM_018995.2	29,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	762/1166,742/1166,762/1212	50581577	1,13005	2203	4300	6503	SO:0001583	missense	54456			AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"cardiac helicase activated by MEF2C protein"	605794	"Mov10 (mouse)-like 1", "Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.2285G>A	22.37:g.50581577G>A	ENSP00000262794:p.Arg762His		A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	ENST00000262794.5	37	CCDS14084.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.252396	0.80135	2.27E-4	0.0	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615	D;D;D;D	0.86956	-2.01;-2.01;-1.61;-2.19	5.61	5.61	0.85477	.	0.049309	0.85682	D	0.000000	D	0.93096	0.7802	M	0.68728	2.09	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;0.999	D	0.93039	0.6455	10	0.62326	D	0.03	-19.6794	19.6476	0.95789	0.0:0.0:1.0:0.0	.	523;742;762;762	B7Z893;F5H403;A8MXC6;Q9BXT6	.;.;.;M10L1_HUMAN	H	762;762;762;742	ENSP00000438978:R762H;ENSP00000262794:R762H;ENSP00000379199:R762H;ENSP00000438542:R742H	ENSP00000262794:R762H	R	+	2	0	MOV10L1	48923704	1.000000	0.71417	1.000000	0.80357	0.139000	0.21198	7.388000	0.79795	2.647000	0.89833	0.655000	0.94253	CGT		0.468	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995		A	50581577	G	A	50581577	3	1	720	1	0	0	0	0	1	0	0	0	9721	1145	40	1	2392	1	MOV10L1	22	50581577	Missense_Mutation	SNP	G	TCGA-KM-8442-01A-11D-2310-10	25457267	50581577	722989	74	40427											
CACNA1F	778	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	X	49084509	49084509	+	Silent	SNP	G	G	A			TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chrX:49084509G>A	ENST00000376265.2	-	8	1168	c.1107C>T	c.(1105-1107)ggC>ggT	p.G369G	CACNA1F_ENST00000376251.1_Silent_p.G304G|CACNA1F_ENST00000323022.5_Silent_p.G369G	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	369			G -> D (in CSNB2A). {ECO:0000269|PubMed:11281458, ECO:0000269|PubMed:12111638, ECO:0000269|PubMed:9662399}.		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)	CACTCAGGACGCCAAGCACAA	0.552																																																0													115	72	87					X																	49084509		2203	4300	6503	SO:0001819	synonymous_variant	778			AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1393	protein-coding gene	gene with protein product		300110	"Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.1107C>T	X.37:g.49084509G>A			A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Silent	SNP	ENST00000376265.2	37	CCDS35253.1																																																																																				0.552	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		A	49084509	G	A	49084509	2	1	720	1	0	0	0	0	0	0	0	1	2545	1074	38	1		1	CACNA1F	23	49084509	Silent	SNP	G	TCGA-KM-8442-01A-11D-2310-10		49084509	106186051	75	40428											
SLC7A3	84889	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	X	70145693	70145693	+	Missense_Mutation	SNP	A	A	T			TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chrX:70145693A>T	ENST00000374299.3	-	12	1974	c.1830T>A	c.(1828-1830)gaT>gaA	p.D610E	SLC7A3_ENST00000298085.4_Missense_Mutation_p.D610E			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	610					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)|L-lysine transmembrane transporter activity (GO:0015189)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GAGTGCCGGGATCAAGGTCTA	0.502																																																0													247	189	208					X																	70145693		2203	4300	6503	SO:0001583	missense	84889			AF320612	CCDS14404.1	Xq12	2013-05-22			ENSG00000165349	ENSG00000165349		"Solute carriers"	11061	protein-coding gene	gene with protein product		300443				11591158	Standard	NM_001048164		Approved	CAT-3, ATRC3, FLJ14541	uc004dyn.3	Q8WY07	OTTHUMG00000021780	ENST00000374299.3:c.1830T>A	X.37:g.70145693A>T	ENSP00000363417:p.Asp610Glu		D3DVU7|Q5JQR2|Q8N185|Q8NCA7|Q96SZ7	Missense_Mutation	SNP	ENST00000374299.3	37	CCDS14404.1	.	.	.	.	.	.	.	.	.	.	A	11.85	1.762611	0.31228	.	.	ENSG00000165349	ENST00000374299;ENST00000298085	D;D	0.87966	-2.32;-2.32	4.41	-3.07	0.05363	.	0.364776	0.31268	N	0.007942	T	0.61160	0.2325	N	0.08118	0	0.25017	N	0.991362	B	0.09022	0.002	B	0.10450	0.005	T	0.57254	-0.7843	10	0.02654	T	1	.	2.9368	0.05817	0.3414:0.0:0.3184:0.3402	.	610	Q8WY07	CTR3_HUMAN	E	610	ENSP00000363417:D610E;ENSP00000298085:D610E	ENSP00000298085:D610E	D	-	3	2	SLC7A3	70062418	0.950000	0.32346	0.771000	0.31576	0.057000	0.15508	0.389000	0.20751	-0.392000	0.07751	0.314000	0.21332	GAT		0.502	SLC7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057080.1	NM_032803		T	70145693	A	T	70145693	3	4	720	1	0	0	0	0	1	0	0	0	14704	330	12	5	33	5	SLC7A3	23	70145693	Missense_Mutation	SNP	A	TCGA-KM-8442-01A-11D-2310-10	21061184	70145693	85124867	76	40429											
PCDH11X	27328	mdanderson.org	37	X	91134112	91134112	+	Missense_Mutation	SNP	C	C	T			TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chrX:91134112C>T	ENST00000373094.1	+	2	3718	c.2873C>T	c.(2872-2874)tCg>tTg	p.S958L	PCDH11X_ENST00000373097.1_Missense_Mutation_p.S958L|PCDH11X_ENST00000361655.2_Missense_Mutation_p.S958L|PCDH11X_ENST00000361724.1_Missense_Mutation_p.S958L|PCDH11X_ENST00000406881.1_Missense_Mutation_p.S958L|PCDH11X_ENST00000373088.1_Missense_Mutation_p.S958L|PCDH11X_ENST00000504220.2_Missense_Mutation_p.S958L|PCDH11X_ENST00000298274.8_Missense_Mutation_p.S958L|PCDH11X_ENST00000395337.2_Missense_Mutation_p.S958L	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	958					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						CCCCTGAATTCGAAGCACCAC	0.507																																					NSCLC(38;925 1092 2571 38200 45895)											0													252	207	222					X																	91134112		2203	4300	6503	SO:0001583	missense	27328			AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"Cadherins / Protocadherins : Non-clustered"	8656	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 119"	300246	"protocadherin 11"	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.2873C>T	X.37:g.91134112C>T	ENSP00000362186:p.Ser958Leu		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	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	10.16	1.272807	0.23221	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51	4.82	3.06	0.35304	Protocadherin (1);	0.195197	0.44285	N	0.000476	T	0.30230	0.0758	M	0.65498	2.005	0.30108	N	0.806795	B;B;B;B;B;B;B;B	0.19073	0.027;0.027;0.027;0.027;0.027;0.033;0.027;0.027	B;B;B;B;B;B;B;B	0.18263	0.013;0.013;0.013;0.013;0.013;0.021;0.013;0.013	T	0.20907	-1.0261	10	0.39692	T	0.17	.	9.5293	0.39185	0.0:0.8253:0.0:0.1747	.	958;958;958;958;958;958;958;958	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	L	958	ENSP00000378746:S958L;ENSP00000362186:S958L;ENSP00000362189:S958L;ENSP00000355040:S958L;ENSP00000362180:S958L;ENSP00000423762:S958L;ENSP00000355105:S958L;ENSP00000384758:S958L;ENSP00000298274:S958L	ENSP00000298274:S958L	S	+	2	0	PCDH11X	91020768	1.000000	0.71417	0.880000	0.34516	0.809000	0.45718	3.614000	0.54160	0.460000	0.27045	-0.192000	0.12808	TCG		0.507	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		T	91134112	C	T	91134112	3	4	720	1	0	0	0	0	1	0	0	0	11510	893	31	1	2879	1	PCDH11X	23	91134112	Missense_Mutation	SNP	C	TCGA-KM-8442-01A-11D-2310-10	20988419	91134112	64136448	77	40430											
ZBTB48	3104	ucsc.edu	37	1	6646821	6646821	+	Missense_Mutation	SNP	T	T	C			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr1:6646821T>C	ENST00000377674.4	+	5	1269	c.1111T>C	c.(1111-1113)Tct>Cct	p.S371P		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	371					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)		GCACATGGTGTCTCACACAGG	0.632																																					Esophageal Squamous(125;1449 1657 4031 29866 49542)											0													94	69	78					1																	6646821		2203	4300	6503	SO:0001583	missense	3104			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.1111T>C	1.37:g.6646821T>C	ENSP00000366902:p.Ser371Pro		Q5SY19	Missense_Mutation	SNP	ENST00000377674.4	37	CCDS84.1	.	.	.	.	.	.	.	.	.	.	T	19.07	3.755996	0.69648	.	.	ENSG00000204859	ENST00000377674;ENST00000545645	T	0.19105	2.17	5.62	4.47	0.54385	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.148877	0.64402	D	0.000006	T	0.35008	0.0917	L	0.49256	1.55	0.44635	D	0.997611	P	0.47841	0.901	P	0.57548	0.823	T	0.05801	-1.0863	10	0.72032	D	0.01	-36.1725	12.3143	0.54946	0.0:0.0:0.1416:0.8583	.	371	P10074	ZBT48_HUMAN	P	371;9	ENSP00000366902:S371P	ENSP00000366902:S371P	S	+	1	0	ZBTB48	6569408	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.631000	0.37092	1.053000	0.40415	0.459000	0.35465	TCT		0.632	ZBTB48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004193.1	NM_005341		C	6646821	T	C	6646821	3	2	721	1	0	0	0	0	1	0	0	0	17554	1667	58	3	1125	3	ZBTB48	1	6646821	Missense_Mutation	SNP	T	TCGA-KM-8443-01A-11D-2310-10		6646821	242603800	1	40431											
HSPG2	3339	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	22207292	22207292	+	Missense_Mutation	SNP	G	G	A			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr1:22207292G>A	ENST00000374695.3	-	15	1934	c.1855C>T	c.(1855-1857)Cgc>Tgc	p.R619C		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	619	Laminin IV type A 1. {ECO:0000255|PROSITE-ProRule:PRU00458}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	AACTCGTAGCGCACGTTGTAA	0.657																																																0													31	31	31					1																	22207292		2195	4289	6484	SO:0001583	missense	3339			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.1855C>T	1.37:g.22207292G>A	ENSP00000363827:p.Arg619Cys		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.436733	0.62955	.	.	ENSG00000142798	ENST00000374695	T	0.37584	1.19	5.51	4.59	0.56863	Laminin B type IV (2);Laminin B, subgroup (1);	0.000000	0.40302	N	0.001137	T	0.60663	0.2286	M	0.80982	2.52	0.54753	D	0.999984	D	0.89917	1.0	D	0.87578	0.998	T	0.65697	-0.6105	10	0.87932	D	0	.	11.9832	0.53131	0.0846:0.0:0.9154:0.0	.	619	P98160	PGBM_HUMAN	C	619	ENSP00000363827:R619C	ENSP00000363827:R619C	R	-	1	0	HSPG2	22079879	1.000000	0.71417	1.000000	0.80357	0.533000	0.34776	3.767000	0.55288	1.313000	0.45069	0.561000	0.74099	CGC		0.657	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		A	22207292	G	A	22207292	3	1	721	1	0	0	0	0	1	0	0	0	7432	1087	38	1	11652	1	HSPG2	1	22207292	Missense_Mutation	SNP	G	TCGA-KM-8443-01A-11D-2310-10	15560471	22207292	227043329	2	40432											
ASXL2	55252	broad.mit.edu;hgsc.bcm.edu	37	2	25966455	25966455	+	Silent	SNP	C	C	T			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr2:25966455C>T	ENST00000435504.4	-	13	3044	c.2751G>A	c.(2749-2751)tcG>tcA	p.S917S	ASXL2_ENST00000336112.4_Silent_p.S889S|ASXL2_ENST00000272341.4_Intron|ASXL2_ENST00000404843.1_Intron			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	917					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)					GCAAAGTGCTCGAGGGTGGAG	0.473																																																0													96	98	97					2																	25966455		1935	4140	6075	SO:0001819	synonymous_variant	55252					2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"additional sex combs like 2 (Drosophila)"			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.2751G>A	2.37:g.25966455C>T			Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Silent	SNP	ENST00000435504.4	37																																																																																					0.473	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263		T	25966455	C	T	25966455	2	4	721	1	0	0	0	0	0	0	0	1	1067	871	31	1		1	ASXL2	2	25966455	Silent	SNP	C	TCGA-KM-8443-01A-11D-2310-10		25966455	217232918	3	40433											
CCT7	10574	ucsc.edu	37	2	73467611	73467611	+	Silent	SNP	T	T	C			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr2:73467611T>C	ENST00000258091.5	+	3	348	c.207T>C	c.(205-207)ctT>ctC	p.L69L	CCT7_ENST00000398422.2_Intron|CCT7_ENST00000539919.1_Silent_p.L25L|CCT7_ENST00000538797.1_5'UTR|CCT7_ENST00000537131.1_Intron|CCT7_ENST00000473786.1_Intron|CCT7_ENST00000540468.1_Intron	NM_006429.3	NP_006420.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	69					'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						TGAAACTTCTTGATGTTGTCC	0.383																																																0													119	111	114					2																	73467611		1858	4101	5959	SO:0001819	synonymous_variant	10574			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.207T>C	2.37:g.73467611T>C			A8K7E6|A8MWI8|B7WNW9|B7Z4T9|B7Z4Z7|O14871|Q6FI26	Silent	SNP	ENST00000258091.5	37	CCDS46336.1																																																																																				0.383	CCT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327714.2			C	73467611	T	C	73467611	2	2	721	1	0	0	0	0	0	0	0	1	2961	1799	63	3		3	CCT7	2	73467611	Silent	SNP	T	TCGA-KM-8443-01A-11D-2310-10	47501156	73467611	169731762	4	40434											
NBEAL2	23218	broad.mit.edu;ucsc.edu;mdanderson.org	37	3	47041771	47041771	+	Silent	SNP	G	G	A			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr3:47041771G>A	ENST00000450053.3	+	27	4361	c.4182G>A	c.(4180-4182)ggG>ggA	p.G1394G	NBEAL2_ENST00000292309.5_Silent_p.G1210G|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1394					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)		CACTGGATGGGCCGCGGCCCT	0.642																																																0													23	28	26					3																	47041771		2074	4213	6287	SO:0001819	synonymous_variant	23218			AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"WD repeat domain containing"	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.4182G>A	3.37:g.47041771G>A			O60288|Q6P994|Q6UX91|Q8NAC9	Silent	SNP	ENST00000450053.3	37	CCDS46817.1	.	.	.	.	.	.	.	.	.	.	G	2.245	-0.372895	0.05034	.	.	ENSG00000160796	ENST00000416683	T	0.56611	0.45	5.48	1.58	0.23477	.	0.554048	0.19794	N	0.105905	T	0.46425	0.1392	.	.	.	0.51482	D	0.999921	.	.	.	.	.	.	T	0.31194	-0.9952	7	0.38643	T	0.18	.	2.157	0.03814	0.1597:0.2694:0.4148:0.1562	.	.	.	.	D	682	ENSP00000410405:G682D	ENSP00000410405:G682D	G	+	2	0	NBEAL2	47016775	0.927000	0.31430	0.985000	0.45067	0.362000	0.29581	0.410000	0.21098	0.006000	0.14734	-0.397000	0.06425	GGC		0.642	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		A	47041771	G	A	47041771	2	1	721	1	0	0	0	0	0	0	0	1	10191	1190	42	2		2	NBEAL2	3	47041771	Silent	SNP	G	TCGA-KM-8443-01A-11D-2310-10		47041771	150980659	5	40435											
BSN	8927	broad.mit.edu;mdanderson.org;bcgsc.ca	37	3	49691694	49691694	+	Missense_Mutation	SNP	A	A	T			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr3:49691694A>T	ENST00000296452.4	+	5	4819	c.4705A>T	c.(4705-4707)Acc>Tcc	p.T1569S		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1569					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)		CTCCAGCCAGACCAGGATGGT	0.607																																																0													81	80	81					3																	49691694		2203	4300	6503	SO:0001583	missense	8927			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"zinc finger protein 231", "neuronal double zinc finger protein"	604020	"bassoon (presynaptic cytomatrix protein)"	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.4705A>T	3.37:g.49691694A>T	ENSP00000296452:p.Thr1569Ser		O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	A	12.69	2.014371	0.35511	.	.	ENSG00000164061	ENST00000296452	T	0.20200	2.09	5.47	4.3	0.51218	.	0.221290	0.46758	D	0.000272	T	0.19208	0.0461	L	0.50333	1.59	0.40821	D	0.983501	B	0.27229	0.172	B	0.24155	0.051	T	0.03761	-1.1006	10	0.29301	T	0.29	.	11.1166	0.48264	0.9274:0.0:0.0726:0.0	.	1569	Q9UPA5	BSN_HUMAN	S	1569	ENSP00000296452:T1569S	ENSP00000296452:T1569S	T	+	1	0	BSN	49666698	1.000000	0.71417	0.992000	0.48379	0.923000	0.55619	1.847000	0.39299	0.917000	0.36895	0.379000	0.24179	ACC		0.607	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		T	49691694	A	T	49691694	3	4	721	1	0	0	0	0	1	0	0	0	1532	275	10	5	4723	5	BSN	3	49691694	Missense_Mutation	SNP	A	TCGA-KM-8443-01A-11D-2310-10	2649923	49691694	148330736	6	40436											
DRD3	1814	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	3	113890761	113890761	+	Missense_Mutation	SNP	G	G	A			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr3:113890761G>A	ENST00000460779.1	-	3	368	c.79C>T	c.(79-81)Cgc>Tgc	p.R27C	DRD3_ENST00000383673.2_Missense_Mutation_p.R27C|DRD3_ENST00000295881.7_Missense_Mutation_p.R27C|DRD3_ENST00000467632.1_Missense_Mutation_p.R27C	NM_001282563.1	NP_001269492.1	P35462	DRD3_HUMAN	dopamine receptor D3	27					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)	GCATGTGGGCGGGCCTGGCTG	0.627																																																0													41	36	38					3																	113890761		2203	4300	6503	SO:0001583	missense	1814				CCDS2978.1, CCDS33829.1	3q13.3	2012-08-08			ENSG00000151577	ENSG00000151577		"GPCR / Class A : Dopamine receptors"	3024	protein-coding gene	gene with protein product		126451				1916765	Standard	XM_005247171		Approved		uc003ebc.1	P35462	OTTHUMG00000159334	ENST00000460779.1:c.79C>T	3.37:g.113890761G>A	ENSP00000419402:p.Arg27Cys		A1A4V5|Q4VBM8	Missense_Mutation	SNP	ENST00000460779.1	37	CCDS2978.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.276566	0.80580	.	.	ENSG00000151577	ENST00000460779;ENST00000467632;ENST00000383673;ENST00000281274;ENST00000295881	T;T;T;T	0.37584	1.19;1.19;1.19;1.19	5.0	5.0	0.66597	.	0.587132	0.18863	N	0.129078	T	0.30978	0.0782	N	0.19112	0.55	0.20489	N	0.999893	D;D;D;P	0.63046	0.977;0.977;0.992;0.857	P;P;B;P	0.44860	0.462;0.462;0.386;0.462	T	0.18335	-1.0340	10	0.46703	T	0.11	.	18.4938	0.90856	0.0:0.0:1.0:0.0	.	27;27;27;27	A1A4V4;A8K8E4;P35462;E9PCM4	.;.;DRD3_HUMAN;.	C	27	ENSP00000419402:R27C;ENSP00000420662:R27C;ENSP00000373169:R27C;ENSP00000295881:R27C	ENSP00000281274:R27C	R	-	1	0	DRD3	115373451	0.912000	0.30974	0.651000	0.29564	0.276000	0.26787	3.919000	0.56439	2.603000	0.88011	0.655000	0.94253	CGC		0.627	DRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354699.1	NM_000796.3		A	113890761	G	A	113890761	3	1	721	1	0	0	0	0	1	0	0	0	4760	1116	39	1	1147	1	DRD3	3	113890761	Missense_Mutation	SNP	G	TCGA-KM-8443-01A-11D-2310-10	64199067	113890761	84131669	7	40437											
TIGIT	201633	broad.mit.edu;ucsc.edu;mdanderson.org	37	3	114018494	114018494	+	Missense_Mutation	SNP	G	G	A	rs369133784		TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr3:114018494G>A	ENST00000486257.1	+	4	699	c.442G>A	c.(442-444)Gcg>Acg	p.A148T	TIGIT_ENST00000383671.3_Missense_Mutation_p.A148T|TIGIT_ENST00000481065.1_Missense_Mutation_p.A215T			Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains	148					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						AGCCATGGCCGCGACGCTGGT	0.582																																																0								G	THR/ALA	0,4406		0,0,2203	91	76	81		442	-8.2	0	3		81	1,8599	1.2+/-3.3	0,1,4299	no	missense	TIGIT	NM_173799.3	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	148/245	114018494	1,13005	2203	4300	6503	SO:0001583	missense	201633			AK097192	CCDS2980.1	3q13.31	2013-01-11	2008-10-13	2008-10-13	ENSG00000181847	ENSG00000181847		"Immunoglobulin superfamily / V-set domain containing"	26838	protein-coding gene	gene with protein product		612859	"V-set and immunoglobulin domain containing 9", "V-set and transmembrane domain containing 3"	VSIG9, VSTM3		19011627	Standard	NM_173799		Approved	FLJ39873, DKFZp667A205	uc003ebg.2	Q495A1	OTTHUMG00000159331	ENST00000486257.1:c.442G>A	3.37:g.114018494G>A	ENSP00000419085:p.Ala148Thr		Q495A3|Q5JPD8|Q6MZS2|Q8N877	Missense_Mutation	SNP	ENST00000486257.1	37	CCDS2980.1	.	.	.	.	.	.	.	.	.	.	G	0.030	-1.340308	0.01277	0.0	1.16E-4	ENSG00000181847	ENST00000461158;ENST00000481065;ENST00000486257;ENST00000383671;ENST00000484319	T;T;T;T;T	0.56611	0.51;0.45;0.49;0.49;0.51	4.09	-8.19	0.01049	.	1.743640	0.02883	N	0.133134	T	0.29190	0.0726	N	0.17082	0.46	0.09310	N	1	B	0.10296	0.003	B	0.01281	0.0	T	0.29882	-0.9997	10	0.07813	T	0.8	4.6473	8.6741	0.34167	0.1485:0.0:0.5321:0.3194	.	148	Q495A1	TIGIT_HUMAN	T	127;215;148;148;127	ENSP00000418917:A127T;ENSP00000420552:A215T;ENSP00000419085:A148T;ENSP00000373167:A148T;ENSP00000419706:A127T	ENSP00000373167:A148T	A	+	1	0	TIGIT	115501184	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.907000	0.00700	-2.557000	0.00476	-1.140000	0.01884	GCG		0.582	TIGIT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354690.1	NM_173799		A	114018494	G	A	114018494	3	1	721	1	0	0	0	0	1	0	0	0	15907	1087	38	1	452	1	TIGIT	3	114018494	Missense_Mutation	SNP	G	TCGA-KM-8443-01A-11D-2310-10	127733	114018494	84003936	8	40438											
CLCN2	1181	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	3	184075816	184075816	+	Missense_Mutation	SNP	C	C	G			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr3:184075816C>G	ENST00000265593.4	-	5	720	c.549G>C	c.(547-549)aaG>aaC	p.K183N	EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000434054.2_Missense_Mutation_p.K139N|CLCN2_ENST00000475279.1_5'Flank|CLCN2_ENST00000457512.1_Missense_Mutation_p.K183N|CLCN2_ENST00000423355.2_5'UTR|CLCN2_ENST00000344937.7_Missense_Mutation_p.K183N	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	183					cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	CTATAAAGGTCTTGAGTGTGA	0.562																																																0													85	81	82					3																	184075816		2203	4300	6503	SO:0001583	missense	1181			S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"Ion channels / Chloride channels : Voltage-sensitive"	2020	protein-coding gene	gene with protein product		600570	"chloride channel 2"			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.549G>C	3.37:g.184075816C>G	ENSP00000265593:p.Lys183Asn		B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Missense_Mutation	SNP	ENST00000265593.4	37	CCDS3263.1	.	.	.	.	.	.	.	.	.	.	c	17.24	3.340551	0.60963	.	.	ENSG00000114859	ENST00000265593;ENST00000344937;ENST00000434054;ENST00000457512	D;D;D;D	0.94862	-3.54;-3.54;-3.54;-3.54	4.34	4.34	0.51931	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.96595	0.8889	M	0.81497	2.545	0.80722	D	1	P;P;D;P;P	0.76494	0.936;0.931;0.999;0.553;0.733	P;P;D;B;P	0.74674	0.827;0.635;0.984;0.35;0.538	D	0.96554	0.9410	10	0.87932	D	0	-20.6668	10.337	0.43856	0.0:0.9085:0.0:0.0915	.	183;139;183;183;183	B4DYE3;E9PBD9;E9PCD2;P51788-3;P51788	.;.;.;.;CLCN2_HUMAN	N	183;183;139;183	ENSP00000265593:K183N;ENSP00000345056:K183N;ENSP00000400425:K139N;ENSP00000391928:K183N	ENSP00000265593:K183N	K	-	3	2	CLCN2	185558510	0.981000	0.34729	1.000000	0.80357	0.907000	0.53573	0.165000	0.16564	2.250000	0.74265	0.462000	0.41574	AAG		0.562	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345571.1			G	184075816	C	G	184075816	3	3	721	1	0	0	0	0	1	0	0	0	3465	912	32	4	2227	4	CLCN2	3	184075816	Missense_Mutation	SNP	C	TCGA-KM-8443-01A-11D-2310-10	70057322	184075816	13946614	9	40439											
TNK2	10188	broad.mit.edu	37	3	195594314	195594314	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr3:195594314delG	ENST00000333602.6	-	12	3427	c.2810delC	c.(2809-2811)ccgfs	p.P937fs	TNK2_ENST00000428187.1_Frame_Shift_Del_p.P969fs|TNK2_ENST00000392400.1_Frame_Shift_Del_p.P937fs|TNK2_ENST00000381916.2_Frame_Shift_Del_p.P1015fs	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	937	Pro-rich.			Missing (in Ref. 4; AAH08884). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	AGTGGCCCTCGGGGGTGGTGG	0.716																																																0													7	10	9					3																	195594314		2037	4141	6178	SO:0001589	frameshift_variant	10188			L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"activated Cdc42-associated kinase 1"	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.2810delC	3.37:g.195594314delG	ENSP00000329425:p.Pro937fs		Q6ZMQ0|Q8N6U7|Q96H59	Frame_Shift_Del	DEL	ENST00000333602.6	37	CCDS33928.1																																																																																				0.716	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341437.3	NM_005781		-	195594314	G	-	195594314	7	5	721	1	0	1	0	1	0	0	0	0	16323	1116	39	0	322	0	TNK2	3	195594314	Frame_Shift_Del	DEL	G	TCGA-KM-8443-01A-11D-2310-10	11518498	195594314	2428116	10	40440											
UGT2B4	7363	mdanderson.org	37	4	70361420	70361420	+	Missense_Mutation	SNP	T	T	C			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr4:70361420T>C	ENST00000305107.6	-	1	206	c.160A>G	c.(160-162)Act>Gct	p.T54A	UGT2B4_ENST00000381096.3_Intron|UGT2B4_ENST00000512583.1_Missense_Mutation_p.T54A|UGT2B4_ENST00000506580.1_5'UTR	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	54					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)	GCCAATACAGTCACCTCATGA	0.423																																																0													111	115	113					4																	70361420		2202	4300	6502	SO:0001583	missense	7363			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.160A>G	4.37:g.70361420T>C	ENSP00000305221:p.Thr54Ala		A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Missense_Mutation	SNP	ENST00000305107.6	37	CCDS43234.1	.	.	.	.	.	.	.	.	.	.	T	16.56	3.158757	0.57368	.	.	ENSG00000156096	ENST00000512583;ENST00000305107;ENST00000510114	T;T;T	0.70516	-0.49;-0.49;0.28	2.41	2.41	0.29592	.	0.000000	0.64402	U	0.000014	T	0.80539	0.4642	M	0.88450	2.955	0.80722	D	1	D;P	0.63046	0.992;0.925	P;P	0.56648	0.775;0.803	T	0.82127	-0.0611	10	0.87932	D	0	.	8.376	0.32442	0.0:0.0:0.0:1.0	.	54;54	G5E9X8;P06133	.;UD2B4_HUMAN	A	54	ENSP00000421290:T54A;ENSP00000305221:T54A;ENSP00000421113:T54A	ENSP00000305221:T54A	T	-	1	0	UGT2B4	70396009	0.525000	0.26290	0.459000	0.27081	0.088000	0.18126	1.953000	0.40352	1.105000	0.41606	0.254000	0.18369	ACT		0.423	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	NM_021139		C	70361420	T	C	70361420	3	2	721	1	0	0	0	0	1	0	0	0	16966	1667	58	3	1450	3	UGT2B4	4	70361420	Missense_Mutation	SNP	T	TCGA-KM-8443-01A-11D-2310-10		70361420	120792856	11	40441											
SNX25	83891	ucsc.edu;mdanderson.org;bcgsc.ca	37	4	186283807	186283807	+	Missense_Mutation	SNP	G	G	A			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr4:186283807G>A	ENST00000504273.1	+	18	2678	c.2384G>A	c.(2383-2385)gGt>gAt	p.G795D	SNX25_ENST00000264694.8_Missense_Mutation_p.G795D|SNX25_ENST00000512853.1_3'UTR			Q9H3E2	SNX25_HUMAN	sorting nexin 25	795					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)		GCCCGCCACGGTATAATAAAA	0.383																																																0													152	168	163					4																	186283807		2203	4300	6503	SO:0001583	missense	83891			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.2384G>A	4.37:g.186283807G>A	ENSP00000426255:p.Gly795Asp		Q3ZT30|Q8N6K3	Missense_Mutation	SNP	ENST00000504273.1	37	CCDS34116.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.490916	0.84962	.	.	ENSG00000109762	ENST00000504273;ENST00000264694;ENST00000264693	T;T	0.36157	1.27;1.27	5.09	4.22	0.49857	Sorting nexin, C-terminal (1);	0.108154	0.64402	D	0.000005	T	0.64918	0.2642	M	0.87456	2.885	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.991;1.0;0.993	T	0.72077	-0.4399	10	0.87932	D	0	-17.0607	15.7978	0.78424	0.0:0.1355:0.8645:0.0	.	511;328;795	Q8N6K3;Q9H5Q8;Q9H3E2	.;.;SNX25_HUMAN	D	795;795;328	ENSP00000426255:G795D;ENSP00000264694:G795D	ENSP00000264693:G328D	G	+	2	0	SNX25	186520801	1.000000	0.71417	0.993000	0.49108	0.988000	0.76386	8.748000	0.91615	2.667000	0.90743	0.561000	0.74099	GGT		0.383	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360756.1	NM_031953		A	186283807	G	A	186283807	3	1	721	1	0	0	0	0	1	0	0	0	14902	1261	44	2	2450	2	SNX25	4	186283807	Missense_Mutation	SNP	G	TCGA-KM-8443-01A-11D-2310-10	115922387	186283807	4870469	12	40442											
KIAA0947	23379	broad.mit.edu;hgsc.bcm.edu	37	5	5463283	5463284	+	Frame_Shift_Ins	INS	-	-	TA			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr5:5463283_5463284insTA	ENST00000296564.7	+	13	4058_4059	c.3836_3837insTA	c.(3835-3840)ggtaaafs	p.K1280fs		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1280					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						GATTGCAATGGTAAAGATACTG	0.371																																																0																																										SO:0001589	frameshift_variant	23379																														ENST00000296564.7:c.3837_3838dupTA	5.37:g.5463284_5463285dupTA	ENSP00000296564:p.Lys1280fs		Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Frame_Shift_Ins	INS	ENST00000296564.7	37	CCDS47187.1																																																																																				0.371	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			TA	5463284	-	TA	5463283	7	5	721	1	0	1	1	0	0	0	0	0	8204	1261	44	0	3886	0	KIAA0947	5	5463283	Frame_Shift_Ins	INS	-	TCGA-KM-8443-01A-11D-2310-10		5463283	175451977	13	40443	355	2									
KIAA0947	23379	bcgsc.ca	37	5	5463284	5463285	+	Frame_Shift_Ins	INS	-	-	TA			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr5:5463284_5463285insTA	ENST00000296564.7	+	13	4059_4060	c.3837_3838insTA	c.(3838-3840)aaafs	p.K1280fs		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1280					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						ATTGCAATGGTAAAGATACTGG	0.376																																																0																																										SO:0001589	frameshift_variant	23379																														Exception_encountered	5.37:g.5463284_5463285insTA	ENSP00000296564:p.Lys1280fs		Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Frame_Shift_Ins	INS	ENST00000296564.7	37	CCDS47187.1																																																																																				0.376	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			TA	5463285	-	TA	5463284	7	5	721	1	0	1	1	0	0	0	0	0	8204	1625	57	0	3887	0	KIAA0947	5	5463284	Frame_Shift_Ins	INS	-	TCGA-KM-8443-01A-11D-2310-10	1	5463284	175451976	14	40444	355	2									
TAS2R1	50834	hgsc.bcm.edu;ucsc.edu	37	5	9629359	9629359	+	Silent	SNP	G	G	A			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr5:9629359G>A	ENST00000382492.2	-	1	1104	c.786C>T	c.(784-786)ttC>ttT	p.F262F	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	262					chemosensory behavior (GO:0007635)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						TCACAAGGATGAAGAACAGAA	0.373																																																0													99	103	102					5																	9629359		2203	4300	6503	SO:0001819	synonymous_variant	50834			AF227129	CCDS3876.1	5p15	2012-08-22			ENSG00000169777	ENSG00000169777		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14909	protein-coding gene	gene with protein product		604796				10761934, 10766242	Standard	NM_019599		Approved	T2R1, TRB7	uc003jem.1	Q9NYW7	OTTHUMG00000090500	ENST00000382492.2:c.786C>T	5.37:g.9629359G>A			Q646G8	Silent	SNP	ENST00000382492.2	37	CCDS3876.1																																																																																				0.373	TAS2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206988.2			A	9629359	G	A	9629359	2	1	721	1	0	0	0	0	0	0	0	1	15570	1281	45	2		2	TAS2R1	5	9629359	Silent	SNP	G	TCGA-KM-8443-01A-11D-2310-10	4166075	9629359	171285901	15	40445											
GPBP1	65056	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	5	56545266	56545266	+	Missense_Mutation	SNP	G	G	A			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr5:56545266G>A	ENST00000506184.2	+	9	1940	c.835G>A	c.(835-837)Gac>Aac	p.D279N	GPBP1_ENST00000454432.2_Missense_Mutation_p.D299N|GPBP1_ENST00000538707.1_Missense_Mutation_p.D286N|GPBP1_ENST00000424459.3_Missense_Mutation_p.D299N|GPBP1_ENST00000511209.1_Intron|GPBP1_ENST00000514387.2_Missense_Mutation_p.D108N|GPBP1_ENST00000264779.6_Missense_Mutation_p.D286N			Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1	279					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)		TTCTCCTGTTGACAAACTTAA	0.363																																																0													104	97	100					5																	56545266		2202	4298	6500	SO:0001583	missense	65056				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.835G>A	5.37:g.56545266G>A	ENSP00000421202:p.Asp279Asn		A6NKW3|Q6NSH6|Q9H0D4|Q9H785|Q9NSN4	Missense_Mutation	SNP	ENST00000506184.2	37	CCDS34162.1	.	.	.	.	.	.	.	.	.	.	G	33	5.240017	0.95240	.	.	ENSG00000062194	ENST00000424459;ENST00000514387;ENST00000506184;ENST00000454432;ENST00000264779;ENST00000538707	T;T;T;T;T;T	0.49139	1.79;0.79;1.8;1.79;1.83;1.82	6.16	6.16	0.99307	.	0.111909	0.64402	D	0.000006	T	0.68165	0.2971	M	0.61703	1.905	0.41698	D	0.989386	D;P;P	0.71674	0.998;0.72;0.72	D;P;B	0.81914	0.995;0.506;0.429	T	0.67086	-0.5759	10	0.62326	D	0.03	-12.6167	19.0403	0.92995	0.0:0.0:1.0:0.0	.	299;286;279	D4PHA4;Q86WP2-2;Q86WP2	.;.;GPBP1_HUMAN	N	299;108;279;299;286;286	ENSP00000401596:D299N;ENSP00000421709:D108N;ENSP00000421202:D279N;ENSP00000403522:D299N;ENSP00000264779:D286N;ENSP00000440090:D286N	ENSP00000264779:D286N	D	+	1	0	GPBP1	56581023	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.747000	0.74872	2.937000	0.99478	0.650000	0.86243	GAC		0.363	GPBP1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374496.1	NM_022913		A	56545266	G	A	56545266	3	1	721	1	0	0	0	0	1	0	0	0	6597	1290	45	2	886	2	GPBP1	5	56545266	Missense_Mutation	SNP	G	TCGA-KM-8443-01A-11D-2310-10	46915907	56545266	124369994	16	40446											
GPBP1	65056	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	5	56545374	56545374	+	Missense_Mutation	SNP	G	G	A			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr5:56545374G>A	ENST00000506184.2	+	9	2048	c.943G>A	c.(943-945)Gaa>Aaa	p.E315K	GPBP1_ENST00000454432.2_Missense_Mutation_p.E335K|GPBP1_ENST00000538707.1_Missense_Mutation_p.E322K|GPBP1_ENST00000424459.3_Missense_Mutation_p.E335K|GPBP1_ENST00000511209.1_Missense_Mutation_p.E307K|GPBP1_ENST00000514387.2_Missense_Mutation_p.E144K|GPBP1_ENST00000264779.6_Missense_Mutation_p.E322K			Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1	315					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)		AGAGGAACATGAAGATGAAAG	0.373																																																0													94	94	94					5																	56545374		2201	4299	6500	SO:0001583	missense	65056				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.943G>A	5.37:g.56545374G>A	ENSP00000421202:p.Glu315Lys		A6NKW3|Q6NSH6|Q9H0D4|Q9H785|Q9NSN4	Missense_Mutation	SNP	ENST00000506184.2	37	CCDS34162.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.067775	0.76301	.	.	ENSG00000062194	ENST00000424459;ENST00000514387;ENST00000506184;ENST00000454432;ENST00000511209;ENST00000264779;ENST00000538707	T;T;T;T;T;T;T	0.50548	1.77;0.74;1.78;1.77;1.79;1.75;1.76	6.16	6.16	0.99307	.	0.100833	0.64402	D	0.000002	T	0.59932	0.2230	L	0.31926	0.97	0.45464	D	0.998434	B;B;D;B	0.67145	0.027;0.004;0.996;0.004	B;B;D;B	0.76071	0.031;0.011;0.987;0.006	T	0.55566	-0.8121	10	0.45353	T	0.12	-17.1056	18.0158	0.89239	0.0:0.0:1.0:0.0	.	335;322;307;315	D4PHA4;Q86WP2-2;Q86WP2-3;Q86WP2	.;.;.;GPBP1_HUMAN	K	335;144;315;335;307;322;322	ENSP00000401596:E335K;ENSP00000421709:E144K;ENSP00000421202:E315K;ENSP00000403522:E335K;ENSP00000422337:E307K;ENSP00000264779:E322K;ENSP00000440090:E322K	ENSP00000264779:E322K	E	+	1	0	GPBP1	56581131	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.660000	0.54496	2.937000	0.99478	0.650000	0.86243	GAA		0.373	GPBP1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374496.1	NM_022913		A	56545374	G	A	56545374	3	1	721	1	0	0	0	0	1	0	0	0	6597	1291	45	2	994	2	GPBP1	5	56545374	Missense_Mutation	SNP	G	TCGA-KM-8443-01A-11D-2310-10	108	56545374	124369886	17	40447											
MAP1B	4131	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	5	71493836	71493836	+	Missense_Mutation	SNP	G	G	A			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr5:71493836G>A	ENST00000296755.7	+	5	4952	c.4654G>A	c.(4654-4656)Gtg>Atg	p.V1552M		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1552					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)		TGTGGCCTCAGTGTCCACAGC	0.517																																					Melanoma(17;367 822 11631 31730 47712)											0													112	94	100					5																	71493836		2203	4300	6503	SO:0001583	missense	4131			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 102"	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.4654G>A	5.37:g.71493836G>A	ENSP00000296755:p.Val1552Met		A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.769918	0.49680	.	.	ENSG00000131711	ENST00000296755	T	0.03580	3.88	5.19	5.19	0.71726	.	0.000000	0.56097	D	0.000032	T	0.10380	0.0254	N	0.24115	0.695	0.58432	D	0.999997	D;D	0.76494	0.999;0.999	D;D	0.68192	0.956;0.956	T	0.18587	-1.0332	10	0.72032	D	0.01	-16.387	18.7095	0.91651	0.0:0.0:1.0:0.0	.	1426;1552	A2BDK6;P46821	.;MAP1B_HUMAN	M	1552	ENSP00000296755:V1552M	ENSP00000296755:V1552M	V	+	1	0	MAP1B	71529592	1.000000	0.71417	0.907000	0.35723	0.750000	0.42670	9.869000	0.99810	2.435000	0.82474	0.313000	0.20887	GTG		0.517	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		A	71493836	G	A	71493836	3	1	721	1	0	0	0	0	1	0	0	0	9230	1029	36	2	4672	2	MAP1B	5	71493836	Missense_Mutation	SNP	G	TCGA-KM-8443-01A-11D-2310-10	14948462	71493836	109421424	18	40448											
RASA1	5921	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	5	86675579	86675579	+	Missense_Mutation	SNP	G	G	A			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr5:86675579G>A	ENST00000274376.6	+	19	3079	c.2515G>A	c.(2515-2517)Gaa>Aaa	p.E839K	RASA1_ENST00000456692.2_Missense_Mutation_p.E662K|RASA1_ENST00000506290.1_Missense_Mutation_p.E673K|RASA1_ENST00000512763.1_Missense_Mutation_p.E672K|CTC-428H11.2_ENST00000607486.1_RNA	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	839	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)		AGAAAAAAATGAAGATGTGAA	0.318																																																0													81	82	82					5																	86675579		2203	4296	6499	SO:0001583	missense	5921				CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	9871	protein-coding gene	gene with protein product	"capillary malformation-arteriovenous malformation"	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.2515G>A	5.37:g.86675579G>A	ENSP00000274376:p.Glu839Lys		B2R6W3|Q9UDI1	Missense_Mutation	SNP	ENST00000274376.6	37	CCDS34200.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.995383	0.74703	.	.	ENSG00000145715	ENST00000274376;ENST00000456692;ENST00000512763;ENST00000506290	T;T;T;T	0.21361	2.01;2.01;2.01;2.01	5.06	5.06	0.68205	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.046382	0.85682	D	0.000000	T	0.27454	0.0674	M	0.69185	2.1	0.80722	D	1	B;B;B;B;B	0.25743	0.004;0.057;0.133;0.046;0.088	B;B;B;B;B	0.20577	0.004;0.03;0.03;0.017;0.011	T	0.04678	-1.0934	10	0.42905	T	0.14	.	18.8001	0.92013	0.0:0.0:1.0:0.0	.	673;672;673;662;839	E9PGC0;B4DTL2;B4DTX4;P20936-2;P20936	.;.;.;.;RASA1_HUMAN	K	839;662;672;673	ENSP00000274376:E839K;ENSP00000411221:E662K;ENSP00000422008:E672K;ENSP00000420905:E673K	ENSP00000274376:E839K	E	+	1	0	RASA1	86711335	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.745000	0.98856	2.500000	0.84329	0.655000	0.94253	GAA		0.318	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1	NM_002890		A	86675579	G	A	86675579	3	1	721	1	0	0	0	0	1	0	0	0	13066	1291	45	2	2601	2	RASA1	5	86675579	Missense_Mutation	SNP	G	TCGA-KM-8443-01A-11D-2310-10	15181743	86675579	94239681	19	40449											
EBF1	1879	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	5	158526463	158526463	+	Silent	SNP	G	G	T			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr5:158526463G>T	ENST00000313708.6	-	1	306	c.24C>A	c.(22-24)atC>atA	p.I8I	EBF1_ENST00000380654.4_Silent_p.I8I|EBF1_ENST00000517373.1_Silent_p.I8I|RP11-175K6.1_ENST00000499583.1_lincRNA|EBF1_ENST00000518836.1_5'UTR	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	8					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)			CACTCCGTTGGATGCTTTCCT	0.493			T	HMGA2	lipoma																																		Dom	yes		5	5q34	1879	early B-cell factor 1		M	0													103	120	115					5																	158526463		2203	4300	6503	SO:0001819	synonymous_variant	1879			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.24C>A	5.37:g.158526463G>T			Q8IW11	Silent	SNP	ENST00000313708.6	37	CCDS4343.1																																																																																				0.493	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252649.1	NM_024007		T	158526463	G	T	158526463	2	4	721	1	0	0	0	0	0	0	0	1	4882	1164	41	4		4	EBF1	5	158526463	Silent	SNP	G	TCGA-KM-8443-01A-11D-2310-10	71850884	158526463	22388797	20	40450											
PPP1R11	6992	broad.mit.edu	37	6	30035207	30035207	+	Missense_Mutation	SNP	G	G	A			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr6:30035207G>A	ENST00000376772.3	+	1	343	c.20G>A	c.(19-21)gGg>gAg	p.G7E	PPP1R11_ENST00000376765.2_5'Flank|PPP1R11_ENST00000376769.2_5'UTR|PPP1R11_ENST00000376763.1_5'Flank|PPP1R11_ENST00000376773.1_Intron|PPP1R11_ENST00000376758.1_5'Flank	NM_021959.2	NP_068778.1	O60927	PP1RB_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 11	7						cytoplasm (GO:0005737)	protein phosphatase inhibitor activity (GO:0004864)			lung(2)|ovary(1)|prostate(1)|skin(2)	6						GCAGGGGCTGGGCTGAGCGAG	0.607																																					Pancreas(185;1767 3918 43793)											0													57	56	56					6																	30035207		2203	4300	6503	SO:0001583	missense	6992			X81003	CCDS4671.1	6p21.3	2012-04-17			ENSG00000204619	ENSG00000204619		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9285	protein-coding gene	gene with protein product		606670		TCTE5		9843442, 8781118	Standard	NM_021959		Approved	HCGV, Tctex5, HCG-V	uc003npb.3	O60927	OTTHUMG00000031260	ENST00000376772.3:c.20G>A	6.37:g.30035207G>A	ENSP00000365963:p.Gly7Glu			Missense_Mutation	SNP	ENST00000376772.3	37	CCDS4671.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.097254	0.56075	.	.	ENSG00000204619	ENST00000376772	.	.	.	5.15	5.15	0.70609	.	0.189098	0.45361	D	0.000364	T	0.22742	0.0549	N	0.14661	0.345	0.80722	D	1	B	0.18863	0.031	B	0.13407	0.009	T	0.08249	-1.0731	9	0.15499	T	0.54	-0.3005	13.998	0.64414	0.0:0.0:1.0:0.0	.	7	O60927	PP1RB_HUMAN	E	7	.	ENSP00000365963:G7E	G	+	2	0	PPP1R11	30143186	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	4.711000	0.61881	2.683000	0.91414	0.643000	0.83706	GGG		0.607	PPP1R11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076557.3	NM_021959		A	30035207	G	A	30035207	3	1	721	1	0	0	0	0	1	0	0	0	12358	1232	43	2	22	2	PPP1R11	6	30035207	Missense_Mutation	SNP	G	TCGA-KM-8443-01A-11D-2310-10		30035207	141079860	21	40451											
SP8	221833	ucsc.edu	37	7	20824901	20824901	+	Missense_Mutation	SNP	A	A	G			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr7:20824901A>G	ENST00000361443.4	-	3	718	c.481T>C	c.(481-483)Ttc>Ctc	p.F161L	SP8_ENST00000418710.2_Missense_Mutation_p.F179L	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor	161					dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|proximal/distal pattern formation (GO:0009954)|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)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						TTGGAGATGAACACCGGCTGG	0.726																																																0													5	6	6					7																	20824901		1660	3287	4947	SO:0001583	missense	221833				CCDS5372.1, CCDS43555.1	7p21.2	2013-01-08			ENSG00000164651	ENSG00000164651		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	19196	protein-coding gene	gene with protein product		608306					Standard	NM_182700		Approved		uc003suz.3	Q8IXZ3	OTTHUMG00000094788	ENST00000361443.4:c.481T>C	7.37:g.20824901A>G	ENSP00000354482:p.Phe161Leu		Q7Z615|Q7Z616|Q96MJ1	Missense_Mutation	SNP	ENST00000361443.4	37	CCDS5372.1	.	.	.	.	.	.	.	.	.	.	A	11.84	1.757824	0.31137	.	.	ENSG00000164651	ENST00000297210;ENST00000418710;ENST00000361443	T;T	0.08896	3.04;3.07	3.26	3.26	0.37387	.	0.000000	0.85682	U	0.000000	T	0.05593	0.0147	L	0.33093	0.98	0.48185	D	0.999604	B;B	0.31837	0.342;0.342	B;B	0.24848	0.056;0.056	T	0.30765	-0.9967	10	0.09338	T	0.73	.	11.4081	0.49911	1.0:0.0:0.0:0.0	.	161;161	Q7Z615;Q8IXZ3	.;SP8_HUMAN	L	137;179;161	ENSP00000408792:F179L;ENSP00000354482:F161L	ENSP00000297210:F137L	F	-	1	0	SP8	20791426	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	4.629000	0.61290	1.355000	0.45865	0.260000	0.18958	TTC		0.726	SP8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326904.2			G	20824901	A	G	20824901	3	3	721	1	0	0	0	0	1	0	0	0	14976	43	2	3	995	3	SP8	7	20824901	Missense_Mutation	SNP	A	TCGA-KM-8443-01A-11D-2310-10		20824901	138313762	22	40452											
MYL7	58498	broad.mit.edu;hgsc.bcm.edu	37	7	44179423	44179423	+	Missense_Mutation	SNP	C	C	T			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr7:44179423C>T	ENST00000223364.3	-	5	361	c.335G>A	c.(334-336)cGc>cAc	p.R112H	MYL7_ENST00000434895.1_5'UTR|MYL7_ENST00000458240.1_Missense_Mutation_p.R85H	NM_021223.2	NP_067046.1	Q01449	MLRA_HUMAN	myosin, light chain 7, regulatory	112	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					A band (GO:0031672)|dendritic spine (GO:0043197)|myosin complex (GO:0016459)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	12						GTCAAACATGCGGAAGGCACT	0.627																																																0													66	58	61					7																	44179423		2203	4300	6503	SO:0001583	missense	58498			M94547	CCDS5478.1	7p21-p11.2	2013-01-10	2006-09-29		ENSG00000106631	ENSG00000106631		"Myosins / Light chain", "EF-hand domain containing"	21719	protein-coding gene	gene with protein product		613993	"myosin, light polypeptide 7, regulatory"			8207020	Standard	NM_021223		Approved	MYLC2A, MYL2A	uc003tkg.3	Q01449	OTTHUMG00000023125	ENST00000223364.3:c.335G>A	7.37:g.44179423C>T	ENSP00000223364:p.Arg112His		B2R4L3	Missense_Mutation	SNP	ENST00000223364.3	37	CCDS5478.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.639708	0.87760	.	.	ENSG00000106631	ENST00000446581;ENST00000223364;ENST00000458240;ENST00000457314;ENST00000447951	T;T;T;T;T	0.73047	2.84;-0.71;-0.71;-0.71;-0.49	5.05	5.05	0.67936	EF-hand-like domain (1);	0.063686	0.64402	D	0.000008	T	0.67011	0.2848	M	0.67700	2.07	0.41070	D	0.985441	B	0.20887	0.049	B	0.25759	0.063	T	0.68383	-0.5423	10	0.72032	D	0.01	.	7.8513	0.29457	0.0:0.8213:0.0:0.1787	.	112	Q01449	MLRA_HUMAN	H	39;112;85;134;141	ENSP00000416010:R39H;ENSP00000223364:R112H;ENSP00000403360:R85H;ENSP00000389202:R134H;ENSP00000403988:R141H	ENSP00000223364:R112H	R	-	2	0	MYL7	44145948	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.258000	0.58822	2.348000	0.79779	0.551000	0.68910	CGC		0.627	MYL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059446.4	NM_021223		T	44179423	C	T	44179423	3	4	721	1	0	0	0	0	1	0	0	0	10055	768	27	1	204	1	MYL7	7	44179423	Missense_Mutation	SNP	C	TCGA-KM-8443-01A-11D-2310-10	23354522	44179423	114959240	23	40453											
CACNA2D1	781	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	7	81641523	81641523	+	Missense_Mutation	SNP	C	C	T			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr7:81641523C>T	ENST00000356253.5	-	15	1564	c.1309G>A	c.(1309-1311)Gca>Aca	p.A437T	CACNA2D1_ENST00000464354.1_5'UTR|CACNA2D1_ENST00000356860.3_Missense_Mutation_p.A437T|MIR1255B1_ENST00000454066.1_RNA|MIR1255B1_ENST00000439234.1_RNA			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	437					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)	TTGTCTCCTGCTAAAACCATT	0.363																																																0													175	157	163					7																	81641523		2203	4300	6503	SO:0001583	missense	781			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.1309G>A	7.37:g.81641523C>T	ENSP00000348589:p.Ala437Thr		Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37		.	.	.	.	.	.	.	.	.	.	C	31	5.069378	0.93950	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253	T;T	0.08008	3.15;3.14	5.41	5.41	0.78517	.	0.046028	0.85682	D	0.000000	T	0.23926	0.0579	M	0.70595	2.14	0.80722	D	1	P	0.47191	0.891	P	0.54759	0.76	T	0.00097	-1.2072	10	0.38643	T	0.18	-21.2337	18.325	0.90251	0.0:1.0:0.0:0.0	.	437	P54289-2	.	T	437	ENSP00000349320:A437T;ENSP00000348589:A437T	ENSP00000284088:A437T	A	-	1	0	CACNA2D1	81479459	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.137000	0.77295	2.694000	0.91930	0.585000	0.79938	GCA		0.363	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				T	81641523	C	T	81641523	3	4	721	1	0	0	0	0	1	0	0	0	2550	797	28	2	2066	2	CACNA2D1	7	81641523	Missense_Mutation	SNP	C	TCGA-KM-8443-01A-11D-2310-10	37462100	81641523	77497140	24	40454											
TOX	9760	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	8	60031454	60031454	+	Nonsense_Mutation	SNP	A	A	T			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr8:60031454A>T	ENST00000361421.1	-	1	313	c.93T>A	c.(91-93)taT>taA	p.Y31*	RP11-25K19.1_ENST00000518993.1_RNA|RP11-25K19.1_ENST00000517898.1_RNA|RP11-25K19.1_ENST00000523683.1_RNA	NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	31						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)				CCTTGTTGCAATAGTAGGGGT	0.632																																					Pancreas(161;610 1969 17913 21374 22725)											0													80	78	78					8																	60031454		2203	4300	6503	SO:0001587	stop_gained	9760				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.93T>A	8.37:g.60031454A>T	ENSP00000354842:p.Tyr31*		Q96AV5	Nonsense_Mutation	SNP	ENST00000361421.1	37	CCDS34897.1	.	.	.	.	.	.	.	.	.	.	A	37	6.025795	0.97216	.	.	ENSG00000198846	ENST00000361421	.	.	.	4.76	4.76	0.60689	.	0.328792	0.22187	N	0.063421	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.498	0.27500	0.8348:0.0:0.1652:0.0	.	.	.	.	X	31	.	.	Y	-	3	2	TOX	60194008	1.000000	0.71417	1.000000	0.80357	0.535000	0.34838	1.807000	0.38902	1.903000	0.55091	0.459000	0.35465	TAT		0.632	TOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378307.1	NM_014729		T	60031454	A	T	60031454	4	4	721	1	0	0	0	0	0	1	0	0	16382	108	4	5	1523	5	TOX	8	60031454	Nonsense_Mutation	SNP	A	TCGA-KM-8443-01A-11D-2310-10		60031454	86332568	25	40455											
EYA1	2138	broad.mit.edu;mdanderson.org;bcgsc.ca	37	8	72211306	72211306	+	Missense_Mutation	SNP	G	G	T			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr8:72211306G>T	ENST00000340726.3	-	9	1441	c.802C>A	c.(802-804)Caa>Aaa	p.Q268K	EYA1_ENST00000419131.1_Missense_Mutation_p.Q263K|EYA1_ENST00000303824.7_Missense_Mutation_p.Q262K|EYA1_ENST00000388742.4_Missense_Mutation_p.Q268K|EYA1_ENST00000388740.3_Missense_Mutation_p.Q235K|EYA1_ENST00000388743.2_Missense_Mutation_p.Q267K|EYA1_ENST00000388741.2_Missense_Mutation_p.Q234K	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	268					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)			GTAACTGCTTGGCTGGTGATG	0.433																																																0													225	194	204					8																	72211306		2203	4300	6503	SO:0001583	missense	2138			AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"Protein tyrosine phosphatases / Asp-based PTPs"	3519	protein-coding gene	gene with protein product		601653	"eyes absent (Drosophila) homolog 1", "eyes absent homolog 1 (Drosophila)"	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.802C>A	8.37:g.72211306G>T	ENSP00000342626:p.Gln268Lys		A6NHQ0|G5E9R4|Q0P516|Q8WX80	Missense_Mutation	SNP	ENST00000340726.3	37	CCDS34906.1	.	.	.	.	.	.	.	.	.	.	G	19.87	3.907619	0.72868	.	.	ENSG00000104313	ENST00000388742;ENST00000340726;ENST00000388744;ENST00000388740;ENST00000303824;ENST00000388741;ENST00000388743;ENST00000419131	D;D;D;D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6;-1.6;-1.6;-1.6	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	D	0.88926	0.6570	L	0.61218	1.895	0.80722	D	1	P;B;P;P;B	0.50369	0.934;0.321;0.516;0.934;0.0	D;B;B;D;B	0.66351	0.943;0.205;0.281;0.943;0.004	D	0.84403	0.0561	10	0.13853	T	0.58	-4.204	19.38	0.94529	0.0:0.0:1.0:0.0	.	262;195;235;268;263	A6NCB9;Q0P517;Q99502-2;Q99502;G5E9R4	.;.;.;EYA1_HUMAN;.	K	268;268;236;235;262;234;267;263	ENSP00000373394:Q268K;ENSP00000342626:Q268K;ENSP00000373392:Q235K;ENSP00000303221:Q262K;ENSP00000373393:Q234K;ENSP00000373395:Q267K;ENSP00000410176:Q263K	ENSP00000303221:Q262K	Q	-	1	0	EYA1	72373860	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.420000	0.97426	2.654000	0.90174	0.585000	0.79938	CAA		0.433	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313788.2	NM_000503, NM_172060		T	72211306	G	T	72211306	3	4	721	1	0	0	0	0	1	0	0	0	5330	1357	47	4	1016	4	EYA1	8	72211306	Missense_Mutation	SNP	G	TCGA-KM-8443-01A-11D-2310-10	12179852	72211306	74152716	26	40456											
GEM	2669	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	8	95264412	95264412	+	Missense_Mutation	SNP	C	C	T			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr8:95264412C>T	ENST00000297596.2	-	4	712	c.448G>A	c.(448-450)Ggg>Agg	p.G150R	GEM_ENST00000396194.2_Missense_Mutation_p.G150R	NM_005261.3	NP_005252.1	P55040	GEM_HUMAN	GTP binding protein overexpressed in skeletal muscle	150					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)			TATGCGTCCCCGACCTGCATG	0.517																																					GBM(125;80 1653 28655 32188 47338)|Esophageal Squamous(19;97 579 13602 49091 51766)											0													82	73	76					8																	95264412		2203	4300	6503	SO:0001583	missense	2669				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.448G>A	8.37:g.95264412C>T	ENSP00000297596:p.Gly150Arg		B2RA31	Missense_Mutation	SNP	ENST00000297596.2	37	CCDS6261.1	.	.	.	.	.	.	.	.	.	.	C	35	5.510098	0.96386	.	.	ENSG00000164949	ENST00000396194;ENST00000297596	T;T	0.79653	-1.29;-1.29	6.17	6.17	0.99709	Small GTP-binding protein domain (1);	0.101171	0.64402	D	0.000002	D	0.92335	0.7568	M	0.90309	3.105	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92503	0.6010	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	150	P55040	GEM_HUMAN	R	150	ENSP00000379497:G150R;ENSP00000297596:G150R	ENSP00000297596:G150R	G	-	1	0	GEM	95333588	1.000000	0.71417	0.977000	0.42913	0.958000	0.62258	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GGG		0.517	GEM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378566.1	NM_181702		T	95264412	C	T	95264412	3	4	721	1	0	0	0	0	1	0	0	0	6331	652	23	1	450	1	GEM	8	95264412	Missense_Mutation	SNP	C	TCGA-KM-8443-01A-11D-2310-10	23053106	95264412	51099610	27	40457											
PRSS3	5646	mdanderson.org	37	9	33797881	33797881	+	Silent	SNP	G	G	A	rs372122039		TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr9:33797881G>A	ENST00000361005.5	+	3	426	c.426G>A	c.(424-426)gaG>gaA	p.E142E	RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000429677.3_Silent_p.E78E|PRSS3_ENST00000342836.4_Silent_p.E99E|PRSS3_ENST00000379405.3_Silent_p.E85E	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3	142	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)			AGGGGAATGAGCAGTTCATCA	0.547																																																0													202	166	178					9																	33797881		2203	4300	6503	SO:0001819	synonymous_variant	5646				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.426G>A	9.37:g.33797881G>A			A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	Silent	SNP	ENST00000361005.5	37	CCDS47958.1																																																																																				0.547	PRSS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052121.1	NM_002771		A	33797881	G	A	33797881	2	1	721	1	0	0	0	0	0	0	0	1	12627	962	34	2		2	PRSS3	9	33797881	Silent	SNP	G	TCGA-KM-8443-01A-11D-2310-10		33797881	107415550	28	40458											
TLE1	7088	broad.mit.edu	37	9	84199172	84199172	+	Missense_Mutation	SNP	T	T	C			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr9:84199172T>C	ENST00000376499.3	-	20	3318	c.2254A>G	c.(2254-2256)Aag>Gag	p.K752E		NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	752					multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of gene expression (GO:0010628)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription factor binding (GO:0008134)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						ACTATGTACTTATCATCCACA	0.423																																					NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)											0													140	128	132					9																	84199172		2203	4300	6503	SO:0001583	missense	7088				CCDS6661.1	9q21.32	2013-01-10	2001-11-28		ENSG00000196781	ENSG00000196781		"WD repeat domain containing"	11837	protein-coding gene	gene with protein product	"enhancer of split groucho 1"	600189	"transducin-like enhancer of split 1, homolog of Drosophila E(sp1)"			8365415, 8808280	Standard	NM_005077		Approved	ESG1, GRG1, ESG	uc004aly.3	Q04724	OTTHUMG00000021008	ENST00000376499.3:c.2254A>G	9.37:g.84199172T>C	ENSP00000365682:p.Lys752Glu		A8K495|Q5T3G4|Q969V9	Missense_Mutation	SNP	ENST00000376499.3	37	CCDS6661.1	.	.	.	.	.	.	.	.	.	.	t	29.1	4.976325	0.92982	.	.	ENSG00000196781	ENST00000376499	T	0.11712	2.75	5.14	5.14	0.70334	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.100652	0.64402	D	0.000002	T	0.29256	0.0728	L	0.57536	1.79	0.80722	D	1	D;D	0.76494	0.999;0.992	D;P	0.70716	0.97;0.901	T	0.01165	-1.1431	10	0.87932	D	0	-20.0631	15.415	0.74960	0.0:0.0:0.0:1.0	.	737;752	B4DEF9;Q04724	.;TLE1_HUMAN	E	752	ENSP00000365682:K752E	ENSP00000365682:K752E	K	-	1	0	TLE1	83388992	1.000000	0.71417	0.983000	0.44433	0.999000	0.98932	7.800000	0.85949	2.281000	0.76405	0.533000	0.62120	AAG		0.423	TLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055407.1	NM_005077		C	84199172	T	C	84199172	3	2	721	1	0	0	0	0	1	0	0	0	15943	1763	61	3	62	3	TLE1	9	84199172	Missense_Mutation	SNP	T	TCGA-KM-8443-01A-11D-2310-10	50401291	84199172	57014259	29	40459											
OR1L1	26737	broad.mit.edu	37	9	125424320	125424320	+	Missense_Mutation	SNP	A	A	G			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr9:125424320A>G	ENST00000373686.1	+	1	476	c.476A>G	c.(475-477)aAc>aGc	p.N159S	OR1L1_ENST00000309623.1_Missense_Mutation_p.N109S			Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	159						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(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						GCCTTTGGAAACACAGACAGT	0.448																																																0													223	212	216					9																	125424320		2203	4300	6503	SO:0001583	missense	26737				CCDS35127.1, CCDS35127.2	9q33.2	2013-09-20			ENSG00000173679	ENSG00000173679		"GPCR / Class A : Olfactory receptors"	8213	protein-coding gene	gene with protein product				OR1L2			Standard	NM_001005236		Approved	OR9-C	uc022bmz.1	Q8NH94	OTTHUMG00000020618	ENST00000373686.1:c.476A>G	9.37:g.125424320A>G	ENSP00000362790:p.Asn159Ser		Q5T7Z3|Q6IFN2	Missense_Mutation	SNP	ENST00000373686.1	37		.	.	.	.	.	.	.	.	.	.	A	16.37	3.105085	0.56291	.	.	ENSG00000173679	ENST00000373686;ENST00000309623	T;T	0.02863	4.13;4.13	3.11	0.772	0.18510	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01940	0.0061	N	0.02225	-0.63	0.09310	N	1	D	0.53462	0.96	P	0.54174	0.744	T	0.47100	-0.9143	9	0.23891	T	0.37	.	3.1547	0.06500	0.4118:0.2383:0.3498:0.0	.	159	Q8NH94	OR1L1_HUMAN	S	159;109	ENSP00000362790:N159S;ENSP00000310773:N109S	ENSP00000310773:N109S	N	+	2	0	OR1L1	124464141	0.000000	0.05858	0.001000	0.08648	0.806000	0.45545	-1.143000	0.03200	0.394000	0.25230	0.260000	0.18958	AAC		0.448	OR1L1-201	KNOWN	basic	protein_coding	protein_coding				G	125424320	A	G	125424320	3	3	721	1	0	0	0	0	1	0	0	0	10965	43	2	3	328	3	OR1L1	9	125424320	Missense_Mutation	SNP	A	TCGA-KM-8443-01A-11D-2310-10	41225148	125424320	15789111	30	40460											
ABL1	25	broad.mit.edu;mdanderson.org;bcgsc.ca	37	9	133748274	133748274	+	Missense_Mutation	SNP	A	A	G			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr9:133748274A>G	ENST00000318560.5	+	6	1316	c.935A>G	c.(934-936)tAt>tGt	p.Y312C		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	312	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	CCCCCGTTCTATATCATCACT	0.552			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"																																		Dom	yes		9	9q34.1	25	v-abl Abelson murine leukemia viral oncogene homolog 1		L	0													82	82	82					9																	133748274		2203	4300	6503	SO:0001583	missense	25			M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"SH2 domain containing"	76	protein-coding gene	gene with protein product		189980	"v-abl Abelson murine leukemia viral oncogene homolog 1", "c-abl oncogene 1, receptor tyrosine kinase", "c-abl oncogene 1, non-receptor tyrosine kinase"	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.935A>G	9.37:g.133748274A>G	ENSP00000323315:p.Tyr312Cys		A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Missense_Mutation	SNP	ENST00000318560.5	37	CCDS35166.1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.841408	0.91197	.	.	ENSG00000097007	ENST00000444970;ENST00000372348;ENST00000318560	T;T	0.65178	-0.14;-0.14	6.04	6.04	0.98038	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	0.66519	0.2797	N	0.15975	0.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.72659	-0.4226	10	0.87932	D	0	.	15.7697	0.78157	1.0:0.0:0.0:0.0	.	312;349	P00519;Q59FK4	ABL1_HUMAN;.	C	127;331;312	ENSP00000361423:Y331C;ENSP00000323315:Y312C	ENSP00000323315:Y312C	Y	+	2	0	ABL1	132738095	1.000000	0.71417	0.986000	0.45419	0.873000	0.50193	9.339000	0.96797	2.317000	0.78254	0.460000	0.39030	TAT		0.552	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313		G	133748274	A	G	133748274	3	3	721	1	0	0	0	0	1	0	0	0	92	449	16	3	1097	3	ABL1	9	133748274	Missense_Mutation	SNP	A	TCGA-KM-8443-01A-11D-2310-10	8323954	133748274	7465157	31	40461											
LCN10	414332	broad.mit.edu	37	9	139636409	139636409	+	Missense_Mutation	SNP	C	C	T	rs373041848		TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr9:139636409C>T	ENST00000474369.1	-	2	180	c.181G>A	c.(181-183)Gac>Aac	p.D61N	LCN6_ENST00000471509.1_5'Flank|LCN6_ENST00000435202.1_3'UTR|LCN6_ENST00000480584.1_5'UTR|LCN10_ENST00000527229.1_Missense_Mutation_p.D61N|LCN10_ENST00000497771.1_Missense_Mutation_p.D61N			Q6JVE6	LCN10_HUMAN	lipocalin 10	61					transport (GO:0006810)	extracellular region (GO:0005576)				breast(2)|cervix(1)|large_intestine(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)		TTCCTCTTGTCCCTGGCCGGC	0.647																																																0									ASN/ASP	0,4402		0,0,2201	52	44	47		181	1	0.1	9		47	1,8599	1.2+/-3.3	0,1,4299	no	missense	LCN10	NM_001001712.2	23	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	61/201	139636409	1,13001	2201	4300	6501	SO:0001583	missense	414332			AY301271	CCDS35182.2	9q34.3	2011-10-24			ENSG00000187922	ENSG00000187922		"Lipocalins"	20892	protein-coding gene	gene with protein product		612904				15363845	Standard	NM_001001712		Approved		uc004civ.3	Q6JVE6	OTTHUMG00000150428	ENST00000474369.1:c.181G>A	9.37:g.139636409C>T	ENSP00000420564:p.Asp61Asn		A2RUU3|B0QZ79	Missense_Mutation	SNP	ENST00000474369.1	37	CCDS35182.2	.	.	.	.	.	.	.	.	.	.	C	17.05	3.288725	0.59976	0.0	1.16E-4	ENSG00000187922	ENST00000527229;ENST00000497771;ENST00000474369	T;T;T	0.12039	2.72;2.72;2.72	4.07	1.03	0.20045	Calycin-like (1);Calycin (1);	0.982436	0.08310	N	0.965576	T	0.12561	0.0305	.	.	.	0.09310	N	1	P;P;P	0.46784	0.884;0.884;0.884	B;B;B	0.43103	0.408;0.408;0.408	T	0.25606	-1.0127	9	0.48119	T	0.1	-5.8772	5.5735	0.17210	0.0:0.4825:0.4041:0.1134	.	61;61;61	E9PK15;Q6JVE6;Q6JVE6-2	.;LCN10_HUMAN;.	N	61	ENSP00000431726:D61N;ENSP00000418491:D61N;ENSP00000420564:D61N	ENSP00000435948:D61N	D	-	1	0	LCN10	138756230	0.094000	0.21725	0.088000	0.20740	0.757000	0.42996	0.802000	0.27069	0.413000	0.25759	0.552000	0.68991	GAC		0.647	LCN10-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318062.2	NM_001001712		T	139636409	C	T	139636409	3	4	721	1	0	0	0	0	1	0	0	0	8683	855	30	2	441	2	LCN10	9	139636409	Missense_Mutation	SNP	C	TCGA-KM-8443-01A-11D-2310-10	5888135	139636409	1577022	32	40462											
TUBB8	347688	broad.mit.edu	37	10	93637	93637	+	Missense_Mutation	SNP	G	G	A			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr10:93637G>A	ENST00000309812.4	-	4	757	c.695C>T	c.(694-696)aCc>aTc	p.T232I	TUBB8_ENST00000413237.3_5'UTR|TUBB8_ENST00000332708.5_3'UTR|TUBB8_ENST00000447903.2_Missense_Mutation_p.T160I	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	232					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.T232I(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)		CCCACTCATGGTAGCAGACAC	0.557																																					Pancreas(192;2041 3010 9013 18103)											1	Substitution - Missense(1)	skin(1)											19	20	20					10																	93637		1983	3806	5789	SO:0001583	missense	347688			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.695C>T	10.37:g.93637G>A	ENSP00000311042:p.Thr232Ile		Q5SQX9|Q8WZ78	Missense_Mutation	SNP	ENST00000309812.4	37	CCDS7051.1	.	.	.	.	.	.	.	.	.	.	G	10.48	1.363066	0.24684	.	.	ENSG00000173876	ENST00000447903;ENST00000272035;ENST00000440680;ENST00000328974	T	0.67698	-0.28	.	.	.	Tubulin/FtsZ, GTPase domain (3);	0.000000	0.64402	U	0.000006	T	0.63177	0.2489	N	0.17764	0.52	0.36197	D	0.85048	D;D	0.65815	0.995;0.961	D;P	0.70487	0.969;0.891	T	0.66236	-0.5974	9	0.87932	D	0	.	5.9051	0.18992	8.0E-4:0.0:0.9992:0.0	.	195;232	C9JAA5;Q3ZCM7	.;TBB8_HUMAN	I	160;198;195;232	ENSP00000403895:T160I	ENSP00000272035:T198I	T	-	2	0	RP11-631M21.2	83637	1.000000	0.71417	0.111000	0.21465	0.113000	0.19764	6.543000	0.73874	0.119000	0.18210	0.121000	0.15741	ACC		0.557	TUBB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467795.1	NM_177987		A	93637	G	A	93637	3	1	721	1	0	0	0	0	1	0	0	0	16766	1261	44	2	643	2	TUBB8	10	93637	Missense_Mutation	SNP	G	TCGA-KM-8443-01A-11D-2310-10		93637	135441110	33	40463											
CDH23	64072	ucsc.edu	37	10	73572329	73572329	+	Missense_Mutation	SNP	A	A	G			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr10:73572329A>G	ENST00000224721.6	+	66	9493	c.9488A>G	c.(9487-9489)gAg>gGg	p.E3163G	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.E918G	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	3158					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						AACCTGAGTGAGATCGCCGAC	0.637																																																0													57	63	61					10																	73572329		2012	4177	6189	SO:0001583	missense	64072			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.9488A>G	10.37:g.73572329A>G	ENSP00000224721:p.Glu3163Gly		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37		.	.	.	.	.	.	.	.	.	.	A	20.7	4.034027	0.75504	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398788	T	0.80994	-1.44	5.44	5.44	0.79542	.	0.061549	0.64402	D	0.000004	D	0.85089	0.5617	L	0.36672	1.1	0.58432	D	0.999997	D;D;P;P	0.69078	0.992;0.997;0.651;0.651	P;D;B;B	0.77557	0.813;0.99;0.115;0.115	D	0.86393	0.1737	10	0.62326	D	0.03	.	15.6681	0.77247	1.0:0.0:0.0:0.0	.	55;55;3158;3158	Q5QGS5;Q5QGS6;E9PEX1;Q9H251	.;.;.;CAD23_HUMAN	G	3163;3158;3161;918	ENSP00000381768:E918G	ENSP00000224721:E3163G	E	+	2	0	CDH23	73242335	1.000000	0.71417	0.999000	0.59377	0.913000	0.54294	9.100000	0.94213	2.288000	0.76882	0.533000	0.62120	GAG		0.637	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		G	73572329	A	G	73572329	3	3	721	1	0	0	0	0	1	0	0	0	3110	304	11	3	10155	3	CDH23	10	73572329	Missense_Mutation	SNP	A	TCGA-KM-8443-01A-11D-2310-10	73478692	73572329	61962418	34	40464											
AMPD3	272	ucsc.edu	37	11	10506508	10506508	+	Missense_Mutation	SNP	A	A	G			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr11:10506508A>G	ENST00000396554.3	+	5	1099	c.758A>G	c.(757-759)cAc>cGc	p.H253R	AMPD3_ENST00000444303.2_Missense_Mutation_p.H85R	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	244					ADP metabolic process (GO:0046031)|AMP catabolic process (GO:0006196)|ATP metabolic process (GO:0046034)|energy homeostasis (GO:0097009)|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)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		CAGGAGCCGCACAGCCTACCC	0.582																																																0													88	77	81					11																	10506508		2201	4294	6495	SO:0001583	missense	272			M84722	CCDS7802.1, CCDS41617.1, CCDS44537.1, CCDS53601.1	11p15	2010-02-10	2010-02-10			ENSG00000133805	3.5.4.6		470	protein-coding gene	gene with protein product	"erythrocyte-specific AMP deaminase"	102772	"adenosine monophosphate deaminase (isoform E)"			1400401	Standard	NM_001172430		Approved		uc001min.1	Q01432		ENST00000396554.3:c.758A>G	11.37:g.10506508A>G	ENSP00000379802:p.His253Arg		A0AUX0|B7Z2S2|B7Z763|B7Z877	Missense_Mutation	SNP	ENST00000396554.3	37	CCDS7802.1	.	.	.	.	.	.	.	.	.	.	A	12.82	2.053576	0.36277	.	.	ENSG00000133805	ENST00000444303;ENST00000396554;ENST00000524866;ENST00000396553;ENST00000528723;ENST00000529507	D;D;D;D;D;D	0.90788	-2.73;-2.73;-2.73;-2.73;-2.73;-2.73	5.97	4.85	0.62838	.	0.089199	0.85682	D	0.000000	T	0.74935	0.3782	N	0.04705	-0.18	0.35951	D	0.833941	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.69859	-0.5031	10	0.20519	T	0.43	-32.6972	3.4323	0.07433	0.6868:0.0:0.3132:0.0	.	251;244;253	B7Z763;Q01432;A0AUX0	.;AMPD3_HUMAN;.	R	85;253;244;244;251;244	ENSP00000396000:H85R;ENSP00000379802:H253R;ENSP00000433284:H244R;ENSP00000379801:H244R;ENSP00000436987:H251R;ENSP00000431648:H244R	ENSP00000379801:H244R	H	+	2	0	AMPD3	10463084	0.999000	0.42202	1.000000	0.80357	0.970000	0.65996	1.627000	0.37050	2.288000	0.76882	0.533000	0.62120	CAC		0.582	AMPD3-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385783.2	NM_000480		G	10506508	A	G	10506508	3	3	721	1	0	0	0	0	1	0	0	0	587	159	6	3	796	3	AMPD3	11	10506508	Missense_Mutation	SNP	A	TCGA-KM-8443-01A-11D-2310-10		10506508	124500008	35	40465											
SYT7	9066	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	11	61291299	61291299	+	Splice_Site	SNP	C	C	A	rs567302490		TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr11:61291299C>A	ENST00000263846.4	-	7	1234	c.907G>T	c.(907-909)Gac>Tac	p.D303Y	SYT7_ENST00000539008.1_Splice_Site_p.D586Y|SYT7_ENST00000540677.1_Splice_Site_p.D378Y|SYT7_ENST00000540831.1_5'Flank|SYT7_ENST00000535826.1_Splice_Site_p.D422Y|SYT7_ENST00000542670.1_Splice_Site_p.D511Y|SYT7_ENST00000542836.1_Splice_Site_p.D347Y	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	303	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|plasma membrane repair (GO:0001778)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						AGCCCCGTACCTGATGTGCCC	0.592													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17118	0.0		0.0	False		,,,				2504	0.0															0													264	253	257					11																	61291299		2202	4299	6501	SO:0001630	splice_region_variant	9066			AF038535	CCDS31577.1, CCDS58139.1, CCDS73298.1	11q12-q13.1	2013-01-21			ENSG00000011347	ENSG00000011347		"Synaptotagmins"	11514	protein-coding gene	gene with protein product		604146	"prostate cancer associated protein 7"	PCANAP7		9615227	Standard	NM_001252065		Approved	IPCA-7, SYT-VII, MGC150517	uc009ynr.3	O43581	OTTHUMG00000168199	ENST00000263846.4:c.907+1G>T	11.37:g.61291299C>A			F5GZU9|Q08AH6	Missense_Mutation	SNP	ENST00000263846.4	37	CCDS31577.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.355550	0.82243	.	.	ENSG00000011347	ENST00000263846;ENST00000540677;ENST00000539008;ENST00000542836;ENST00000542670;ENST00000535826	T;T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;-1.45;-1.45	4.48	4.48	0.54585	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.93729	0.7996	H	0.97829	4.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96390	0.9288	9	.	.	.	.	17.5306	0.87813	0.0:1.0:0.0:0.0	.	378;303	F5GZU9;O43581	.;SYT7_HUMAN	Y	303;378;586;347;511;422	ENSP00000263846:D303Y;ENSP00000444201:D378Y;ENSP00000439694:D586Y;ENSP00000444568:D347Y;ENSP00000444019:D511Y;ENSP00000437720:D422Y	.	D	-	1	0	SYT7	61047875	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	7.760000	0.85248	2.192000	0.70111	0.462000	0.41574	GAC		0.592	SYT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398733.1	NM_004200	Missense_Mutation	A	61291299	C	A	61291299	5	1	721	1	0	0	0	0	0	0	1	0	15484	695	24	4	316	4	SYT7	11	61291299	Splice_Site	SNP	C	TCGA-KM-8443-01A-11D-2310-10	50784791	61291299	73715217	36	40466											
PTS	5805	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	11	112101359	112101359	+	Missense_Mutation	SNP	C	C	G			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr11:112101359C>G	ENST00000280362.3	+	4	276	c.197C>G	c.(196-198)gCt>gGt	p.A66G	PTS_ENST00000524931.1_5'UTR|PTS_ENST00000525803.1_Intron	NM_000317.2	NP_000308.1	Q03393	PTPS_HUMAN	6-pyruvoyltetrahydropterin synthase	66					cellular amino acid metabolic process (GO:0006520)|central nervous system development (GO:0007417)|nitric oxide metabolic process (GO:0046209)|regulation of nitric-oxide synthase activity (GO:0050999)|small molecule metabolic process (GO:0044281)|tetrahydrobiopterin biosynthetic process (GO:0006729)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	6-pyruvoyltetrahydropterin synthase activity (GO:0003874)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(1)|large_intestine(1)	2		all_cancers(61;2.51e-14)|all_epithelial(67;1.64e-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)		Epithelial(105;1.27e-06)|BRCA - Breast invasive adenocarcinoma(274;1.43e-06)|all cancers(92;2.1e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0519)		ATTGACCCTGCTACGGGAATG	0.373																																																0													178	177	177					11																	112101359		2201	4297	6498	SO:0001583	missense	5805			U63382	CCDS8359.1	11q22.3	2014-04-01				ENSG00000150787	4.2.3.12		9689	protein-coding gene	gene with protein product		612719				8188266	Standard	NM_000317		Approved	PTPS	uc001pnj.4	Q03393		ENST00000280362.3:c.197C>G	11.37:g.112101359C>G	ENSP00000280362:p.Ala66Gly		B0YJ87|Q8WVG8	Missense_Mutation	SNP	ENST00000280362.3	37	CCDS8359.1	.	.	.	.	.	.	.	.	.	.	C	10.54	1.378147	0.24944	.	.	ENSG00000150787	ENST00000280362	D	0.99388	-5.81	5.39	-0.156	0.13391	.	0.319540	0.33792	N	0.004555	D	0.96071	0.8720	L	0.39397	1.21	0.80722	D	1	B	0.06786	0.001	B	0.13407	0.009	D	0.87920	0.2703	10	0.23302	T	0.38	-16.4062	1.042	0.01561	0.1483:0.1913:0.1537:0.5067	.	66	Q03393	PTPS_HUMAN	G	66	ENSP00000280362:A66G	ENSP00000280362:A66G	A	+	2	0	PTS	111606569	0.793000	0.28825	0.988000	0.46212	0.919000	0.55068	0.412000	0.21131	-0.174000	0.10743	-0.225000	0.12378	GCT		0.373	PTS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393541.1	NM_000317		G	112101359	C	G	112101359	3	3	721	1	0	0	0	0	1	0	0	0	12824	797	28	4	211	4	PTS	11	112101359	Missense_Mutation	SNP	C	TCGA-KM-8443-01A-11D-2310-10	50810060	112101359	22905157	37	40467											
KRT76	51350	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	12	53169235	53169235	+	Missense_Mutation	SNP	T	T	C			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr12:53169235T>C	ENST00000332411.2	-	2	805	c.752A>G	c.(751-753)gAg>gGg	p.E251G		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	251	Coil 1B.|Rod.				cytoskeleton organization (GO:0007010)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GTTCCCCCTCTCCCCTAGAAG	0.552																																																0													140	142	141					12																	53169235		2203	4300	6503	SO:0001583	missense	51350			M99063	CCDS8838.1	12q13.13	2013-06-25			ENSG00000185069	ENSG00000185069		"-", "Intermediate filaments type II, keratins (basic)"	24430	protein-coding gene	gene with protein product						1282112, 16831889	Standard	NM_015848		Approved	HUMCYT2A, KRT2B, KRT2P	uc001sax.3	Q01546	OTTHUMG00000169797	ENST00000332411.2:c.752A>G	12.37:g.53169235T>C	ENSP00000330101:p.Glu251Gly		B4DRR3|Q7Z795	Missense_Mutation	SNP	ENST00000332411.2	37	CCDS8838.1	.	.	.	.	.	.	.	.	.	.	T	15.22	2.767701	0.49574	.	.	ENSG00000185069	ENST00000332411	D	0.90620	-2.7	4.56	3.38	0.38709	Filament (1);	0.144593	0.31612	N	0.007350	D	0.95236	0.8455	M	0.90082	3.085	0.42102	D	0.991342	D	0.67145	0.996	D	0.67725	0.953	D	0.95005	0.8146	10	0.59425	D	0.04	.	11.511	0.50494	0.0:0.0:0.1563:0.8437	.	251	Q01546	K22O_HUMAN	G	251	ENSP00000330101:E251G	ENSP00000330101:E251G	E	-	2	0	KRT76	51455502	0.925000	0.31364	0.067000	0.19924	0.330000	0.28571	5.173000	0.65010	0.825000	0.34637	0.379000	0.24179	GAG		0.552	KRT76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405928.1	NM_015848		C	53169235	T	C	53169235	3	2	721	1	0	0	0	0	1	0	0	0	8491	1551	54	3	1196	3	KRT76	12	53169235	Missense_Mutation	SNP	T	TCGA-KM-8443-01A-11D-2310-10		53169235	80682660	38	40468											
ITGA5	3678	broad.mit.edu	37	12	54812840	54812840	+	Missense_Mutation	SNP	G	G	T			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr12:54812840G>T	ENST00000293379.4	-	1	404	c.143C>A	c.(142-144)gCc>gAc	p.A48D	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.3_ENST00000552053.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	48					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						TACTGCTGGGGCCTCCGCGTC	0.706																																																0													13	19	17					12																	54812840		2110	4214	6324	SO:0001583	missense	3678				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.143C>A	12.37:g.54812840G>T	ENSP00000293379:p.Ala48Asp		Q96HA5	Missense_Mutation	SNP	ENST00000293379.4	37	CCDS8880.1	.	.	.	.	.	.	.	.	.	.	G	11.64	1.699146	0.30142	.	.	ENSG00000161638	ENST00000293379	T	0.69685	-0.42	4.54	3.64	0.41730	.	0.339088	0.30959	N	0.008525	T	0.50411	0.1614	L	0.28400	0.85	0.38871	D	0.956695	B	0.32781	0.384	B	0.28305	0.088	T	0.53078	-0.8489	10	0.39692	T	0.17	.	10.6553	0.45671	0.0:0.1943:0.8057:0.0	.	48	P08648	ITA5_HUMAN	D	48	ENSP00000293379:A48D	ENSP00000293379:A48D	A	-	2	0	ITGA5	53099107	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	2.524000	0.45589	1.254000	0.44035	0.462000	0.41574	GCC		0.706	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406174.1			T	54812840	G	T	54812840	3	4	721	1	0	0	0	0	1	0	0	0	7881	1203	42	4	3126	4	ITGA5	12	54812840	Missense_Mutation	SNP	G	TCGA-KM-8443-01A-11D-2310-10	1643605	54812840	79039055	39	40469											
TBC1D15	64786	broad.mit.edu	37	12	72314554	72314554	+	Missense_Mutation	SNP	T	T	C			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr12:72314554T>C	ENST00000550746.1	+	16	1758	c.1694T>C	c.(1693-1695)cTc>cCc	p.L565P	TBC1D15_ENST00000393309.3_Missense_Mutation_p.L319P|TBC1D15_ENST00000485960.2_Missense_Mutation_p.L548P|TBC1D15_ENST00000319106.8_Missense_Mutation_p.L556P	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	565					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	Rab GTPase activator activity (GO:0005097)			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CATCTTCTTCTCTGTTGTGCT	0.323																																																0													219	217	217					12																	72314554		2203	4300	6503	SO:0001583	missense	64786			AL157464	CCDS31858.1, CCDS53814.1, CCDS55849.1	12q15	2013-07-09			ENSG00000121749	ENSG00000121749			25694	protein-coding gene	gene with protein product		612662				16055087	Standard	NM_022771		Approved	FLJ12085, DKFZp761D0223	uc001swu.3	Q8TC07	OTTHUMG00000158553	ENST00000550746.1:c.1694T>C	12.37:g.72314554T>C	ENSP00000448182:p.Leu565Pro		B4DMT9|B9A6L6|J3KNI9|Q9HA83	Missense_Mutation	SNP	ENST00000550746.1	37	CCDS31858.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.254728	0.80135	.	.	ENSG00000121749	ENST00000550746;ENST00000319106;ENST00000485960;ENST00000393309	T;T;T;T	0.25085	1.82;1.82;1.82;1.82	5.49	5.49	0.81192	Rab-GAP/TBC domain (3);	0.214306	0.40385	N	0.001113	T	0.44664	0.1304	L	0.57536	1.79	0.80722	D	1	D;P;P	0.54397	0.966;0.913;0.912	P;P;P	0.59424	0.857;0.503;0.635	T	0.41016	-0.9532	10	0.87932	D	0	-0.4369	15.6355	0.76949	0.0:0.0:0.0:1.0	.	556;548;565	E9PH93;Q8TC07-2;Q8TC07	.;.;TBC15_HUMAN	P	565;556;548;319	ENSP00000448182:L565P;ENSP00000318262:L556P;ENSP00000420678:L548P;ENSP00000376986:L319P	ENSP00000318262:L556P	L	+	2	0	TBC1D15	70600821	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.948000	0.87774	2.105000	0.64084	0.472000	0.43445	CTC		0.323	TBC1D15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351266.2	NM_022771		C	72314554	T	C	72314554	3	2	721	1	0	0	0	0	1	0	0	0	15609	1551	54	3	1880	3	TBC1D15	12	72314554	Missense_Mutation	SNP	T	TCGA-KM-8443-01A-11D-2310-10	17501714	72314554	61537341	40	40470											
DDX55	57696	broad.mit.edu;mdanderson.org	37	12	124092052	124092052	+	Missense_Mutation	SNP	A	A	G			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr12:124092052A>G	ENST00000238146.4	+	4	370	c.320A>G	c.(319-321)aAg>aGg	p.K107R	DDX55_ENST00000538744.1_Missense_Mutation_p.K107R	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	107	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		CATTTCACGAAGCACTTCCCC	0.493																																																0													260	207	225					12																	124092052		2203	4300	6503	SO:0001583	missense	57696			AB046815	CCDS9251.1	12q24.31	2003-06-13			ENSG00000111364	ENSG00000111364		"DEAD-boxes"	20085	protein-coding gene	gene with protein product						10997877	Standard	NM_020936		Approved	KIAA1595	uc001ufi.3	Q8NHQ9	OTTHUMG00000168695	ENST00000238146.4:c.320A>G	12.37:g.124092052A>G	ENSP00000238146:p.Lys107Arg		Q658L6|Q8IYH0|Q9HCH7	Missense_Mutation	SNP	ENST00000238146.4	37	CCDS9251.1	.	.	.	.	.	.	.	.	.	.	A	11.83	1.756016	0.31137	.	.	ENSG00000111364	ENST00000238146;ENST00000538449;ENST00000538744	T;T	0.18338	2.22;2.22	5.71	1.99	0.26369	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.152410	0.64402	N	0.000018	T	0.12603	0.0306	L	0.31845	0.965	0.80722	D	1	B	0.06786	0.001	B	0.12837	0.008	T	0.09487	-1.0672	10	0.41790	T	0.15	.	9.837	0.40975	0.8026:0.0:0.1974:0.0	.	107	Q8NHQ9	DDX55_HUMAN	R	107	ENSP00000238146:K107R;ENSP00000443114:K107R	ENSP00000238146:K107R	K	+	2	0	DDX55	122658005	1.000000	0.71417	0.977000	0.42913	0.816000	0.46133	2.882000	0.48546	0.090000	0.17273	-0.400000	0.06385	AAG		0.493	DDX55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400616.2			G	124092052	A	G	124092052	3	3	721	1	0	0	0	0	1	0	0	0	4375	72	3	3	334	3	DDX55	12	124092052	Missense_Mutation	SNP	A	TCGA-KM-8443-01A-11D-2310-10	51777498	124092052	9759843	41	40471											
CHFR	55743	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	12	133435693	133435693	+	Missense_Mutation	SNP	G	G	A			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr12:133435693G>A	ENST00000432561.2	-	8	981	c.908C>T	c.(907-909)aCa>aTa	p.T303I	CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000443047.2_Missense_Mutation_p.T211I|CHFR_ENST00000266880.7_Missense_Mutation_p.T303I|CHFR_ENST00000450056.2_Missense_Mutation_p.T291I|CHFR_ENST00000537522.1_5'Flank|CHFR_ENST00000315585.7_Missense_Mutation_p.T262I			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	303					mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|modification-dependent protein catabolic process (GO:0019941)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)|PML body (GO:0016605)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		GATGATGCATGTCAGCGTCTC	0.602																																																0													243	138	174					12																	133435693		2203	4300	6503	SO:0001583	missense	55743			AK001658	CCDS31937.1, CCDS53847.1, CCDS53848.1, CCDS53849.1	12q24.33	2012-02-23	2012-02-23			ENSG00000072609		"RING-type (C3HC4) zinc fingers"	20455	protein-coding gene	gene with protein product		605209	"checkpoint with forkhead and ring finger domains"			10935642, 11807090	Standard	NM_001161344		Approved	FLJ10796, RNF196	uc001ulf.2	Q96EP1		ENST00000432561.2:c.908C>T	12.37:g.133435693G>A	ENSP00000392395:p.Thr303Ile		A6NEN5|B4DZ77|B4E2L6|Q96SL3|Q9NRT4|Q9NT32|Q9NVD5	Missense_Mutation	SNP	ENST00000432561.2	37	CCDS53849.1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.570504	0.65765	.	.	ENSG00000072609	ENST00000315585;ENST00000443047;ENST00000450056;ENST00000266880;ENST00000541228;ENST00000432561	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	5.49	3.64	0.41730	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.45316	0.1336	N	0.17674	0.51	0.58432	D	0.999997	D;P;P;P;P	0.76494	0.999;0.853;0.879;0.676;0.916	D;P;P;P;P	0.77004	0.989;0.805;0.877;0.733;0.503	T	0.22871	-1.0204	10	0.30078	T	0.28	-15.3446	11.2006	0.48739	0.0693:0.1281:0.8027:0.0	.	211;303;303;291;262	Q96EP1-5;Q96EP1-4;Q96EP1;Q96EP1-2;Q96EP1-3	.;.;CHFR_HUMAN;.;.	I	262;211;291;303;103;303	ENSP00000320557:T262I;ENSP00000416431:T211I;ENSP00000398735:T291I;ENSP00000266880:T303I;ENSP00000392395:T303I	ENSP00000266880:T303I	T	-	2	0	CHFR	131945766	1.000000	0.71417	0.310000	0.25168	0.974000	0.67602	9.312000	0.96287	0.660000	0.30964	0.655000	0.94253	ACA		0.602	CHFR-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397130.2			A	133435693	G	A	133435693	3	1	721	1	0	0	0	0	1	0	0	0	3339	1377	48	2	1130	2	CHFR	12	133435693	Missense_Mutation	SNP	G	TCGA-KM-8443-01A-11D-2310-10	9343641	133435693	416202	42	40472											
SACS	26278	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	13	23915268	23915268	+	Missense_Mutation	SNP	T	T	G			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr13:23915268T>G	ENST00000382292.3	-	9	3020	c.2747A>C	c.(2746-2748)aAa>aCa	p.K916T	SACS_ENST00000402364.1_Missense_Mutation_p.K166T|SACS_ENST00000382298.3_Missense_Mutation_p.K916T			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	916					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)		TCTTTTCTCTTTCTCACTGCT	0.363																																																0													132	134	133					13																	23915268		2203	4300	6503	SO:0001583	missense	26278			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.2747A>C	13.37:g.23915268T>G	ENSP00000371729:p.Lys916Thr		O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	T	11.97	1.796919	0.31777	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.87809	-2.15;-2.3;-2.15	6.05	4.87	0.63330	.	0.154450	0.56097	D	0.000028	T	0.78304	0.4262	L	0.32530	0.975	0.30980	N	0.722627	P	0.34815	0.47	B	0.28916	0.096	T	0.74475	-0.3653	10	0.23891	T	0.37	.	11.899	0.52671	0.0:0.0675:0.0:0.9325	.	916	Q9NZJ4	SACS_HUMAN	T	916;166;916	ENSP00000371729:K916T;ENSP00000385844:K166T;ENSP00000371735:K916T	ENSP00000371729:K916T	K	-	2	0	SACS	22813268	1.000000	0.71417	0.995000	0.50966	0.913000	0.54294	2.117000	0.41939	1.118000	0.41863	0.528000	0.53228	AAA		0.363	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		G	23915268	T	G	23915268	3	3	721	1	0	0	0	0	1	0	0	0	13810	1841	64	5	10996	5	SACS	13	23915268	Missense_Mutation	SNP	T	TCGA-KM-8443-01A-11D-2310-10		23915268	91254610	43	40473											
HOMEZ	57594	broad.mit.edu	37	14	23745955	23745955	+	Missense_Mutation	SNP	T	T	C			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr14:23745955T>C	ENST00000357460.5	-	2	646	c.482A>G	c.(481-483)gAg>gGg	p.E161G	HOMEZ_ENST00000431326.2_Missense_Mutation_p.E163G|HOMEZ_ENST00000561013.1_Missense_Mutation_p.E163G	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	161	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		ACCAACTTGCTCTGGAGCTGG	0.547																																																0													124	125	125					14																	23745955		1926	4139	6065	SO:0001583	missense	57594			AB037864	CCDS45085.1	14q11.2	2011-06-20	2007-02-15	2007-02-15		ENSG00000215271		"Homeoboxes / ZF class"	20164	protein-coding gene	gene with protein product		608119	"KIAA1443"	KIAA1443		12925734	Standard	NM_020834		Approved		uc001wja.2	Q8IX15		ENST00000357460.5:c.482A>G	14.37:g.23745955T>C	ENSP00000350049:p.Glu161Gly		A1L445|B4DZ80|F8WCA3|Q6P049|Q86XB6|Q9P2A5	Missense_Mutation	SNP	ENST00000357460.5	37	CCDS45085.1	.	.	.	.	.	.	.	.	.	.	T	11.79	1.743102	0.30865	.	.	ENSG00000215271	ENST00000357460;ENST00000431326	T;T	0.27557	1.66;1.66	5.62	5.62	0.85841	.	0.212459	0.41396	D	0.000884	T	0.21921	0.0528	L	0.29908	0.895	0.09310	N	1	P;P	0.40731	0.728;0.608	B;B	0.39339	0.297;0.156	T	0.15636	-1.0430	10	0.24483	T	0.36	-24.2871	9.9553	0.41663	0.0:0.0:0.1703:0.8297	.	163;161	F8WCA3;Q8IX15	.;HOMEZ_HUMAN	G	161;163	ENSP00000350049:E161G;ENSP00000406579:E163G	ENSP00000350049:E161G	E	-	2	0	HOMEZ	22815795	0.232000	0.23762	0.990000	0.47175	0.964000	0.63967	1.454000	0.35178	2.159000	0.67721	0.533000	0.62120	GAG		0.547	HOMEZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000416939.2	NM_020834		C	23745955	T	C	23745955	3	2	721	1	0	0	0	0	1	0	0	0	7283	1551	54	3	1174	3	HOMEZ	14	23745955	Missense_Mutation	SNP	T	TCGA-KM-8443-01A-11D-2310-10		23745955	83603585	44	40474											
DTWD1	56986	broad.mit.edu	37	15	49935536	49935536	+	Frame_Shift_Del	DEL	C	C	-	rs368454338		TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr15:49935536delC	ENST00000251250.6	+	6	883	c.676delC	c.(676-678)caafs	p.Q226fs	DTWD1_ENST00000558653.1_Frame_Shift_Del_p.Q226fs|DTWD1_ENST00000403028.3_Frame_Shift_Del_p.Q226fs|DTWD1_ENST00000415425.1_Frame_Shift_Del_p.Q139fs	NM_020234.5	NP_064619.2	Q8N5C7	DTWD1_HUMAN	DTW domain containing 1	226										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)		AGGGTTGTTACAAGTTGAGTT	0.299																																																0													20	21	21					15																	49935536		2190	4291	6481	SO:0001589	frameshift_variant	56986			BC032535	CCDS10132.1	15q21.2	2005-08-09			ENSG00000104047	ENSG00000104047			30926	protein-coding gene	gene with protein product							Standard	NM_020234		Approved	MDS009, MGC111207	uc001zxs.3	Q8N5C7	OTTHUMG00000131567	ENST00000251250.6:c.676delC	15.37:g.49935536delC	ENSP00000251250:p.Gln226fs		Q567Q3|Q8WVG9|Q9NRU6	Frame_Shift_Del	DEL	ENST00000251250.6	37	CCDS10132.1																																																																																				0.299	DTWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254431.2	NM_020234		-	49935536	C	-	49935536	7	5	721	1	0	1	0	1	0	0	0	0	4793	479	17	0	690	0	DTWD1	15	49935536	Frame_Shift_Del	DEL	C	TCGA-KM-8443-01A-11D-2310-10		49935536	52595856	45	40475											
SIN3A	25942	broad.mit.edu	37	15	75682085	75682085	+	Missense_Mutation	SNP	A	A	G			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr15:75682085A>G	ENST00000394947.3	-	16	3243	c.2929T>C	c.(2929-2931)Tca>Cca	p.S977P	SIN3A_ENST00000360439.4_Missense_Mutation_p.S977P|SIN3A_ENST00000394949.4_Missense_Mutation_p.S977P	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						TCATACTGTGATGAGTCTATG	0.478																																																0													218	171	187					15																	75682085		2197	4294	6491	SO:0001583	missense	25942			AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"SIN3 homolog A, transcription regulator (yeast)", "SIN3 transcription regulator homolog A (yeast)"			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.2929T>C	15.37:g.75682085A>G	ENSP00000378402:p.Ser977Pro			Missense_Mutation	SNP	ENST00000394947.3	37	CCDS10279.1	.	.	.	.	.	.	.	.	.	.	A	17.67	3.446218	0.63178	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.49139	0.79;0.79;0.79	5.78	5.78	0.91487	.	0.108661	0.64402	D	0.000004	T	0.39410	0.1077	L	0.50333	1.59	0.80722	D	1	P	0.37370	0.592	B	0.33339	0.162	T	0.31052	-0.9957	10	0.37606	T	0.19	-11.3245	10.5229	0.44929	0.8558:0.0:0.0:0.1442	.	977	Q96ST3	SIN3A_HUMAN	P	977	ENSP00000378402:S977P;ENSP00000378403:S977P;ENSP00000353622:S977P	ENSP00000353622:S977P	S	-	1	0	SIN3A	73469138	1.000000	0.71417	0.880000	0.34516	0.996000	0.88848	4.891000	0.63185	2.214000	0.71695	0.528000	0.53228	TCA		0.478	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1	NM_015477		G	75682085	A	G	75682085	3	3	721	1	0	0	0	0	1	0	0	0	14331	333	12	3	916	3	SIN3A	15	75682085	Missense_Mutation	SNP	A	TCGA-KM-8443-01A-11D-2310-10	25746549	75682085	26849307	46	40476											
BCAR1	9564	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	16	75270827	75270827	+	Missense_Mutation	SNP	C	C	T	rs370653589		TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr16:75270827C>T	ENST00000162330.5	-	4	991	c.865G>A	c.(865-867)Gtg>Atg	p.V289M	BCAR1_ENST00000546196.1_Missense_Mutation_p.V260M|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000420641.3_Missense_Mutation_p.V307M|BCAR1_ENST00000538440.2_Missense_Mutation_p.V289M|BCAR1_ENST00000393422.2_Missense_Mutation_p.V307M|BCAR1_ENST00000535626.2_Missense_Mutation_p.V141M|BCAR1_ENST00000393420.6_Missense_Mutation_p.V289M|BCAR1_ENST00000542031.2_Missense_Mutation_p.V287M|BCAR1_ENST00000418647.3_Missense_Mutation_p.V335M	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	289	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)		CTGGGGGGCACGTCATACACC	0.632																																																0								C	MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL	2,4394	4.2+/-10.8	0,2,2196	85	80	82		1003,919,919,865,865,859,421,235,865	3.9	1	16		82	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense,missense,missense,missense	BCAR1	NM_001170714.1,NM_001170715.1,NM_001170716.1,NM_001170717.1,NM_001170718.1,NM_001170719.1,NM_001170720.1,NM_001170721.1,NM_014567.3	21,21,21,21,21,21,21,21,21	0,2,6496	TT,TC,CC		0.0,0.0455,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	335/917,307/889,307/889,289/889,289/871,287/869,141/723,79/661,289/871	75270827	2,12994	2198	4300	6498	SO:0001583	missense	9564			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.865G>A	16.37:g.75270827C>T	ENSP00000162330:p.Val289Met		B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Missense_Mutation	SNP	ENST00000162330.5	37	CCDS10915.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.963648	0.53507	4.55E-4	0.0	ENSG00000050820	ENST00000162330;ENST00000393422;ENST00000420641;ENST00000538440;ENST00000418647;ENST00000535626;ENST00000393420;ENST00000542031;ENST00000546196	T;T;T;T;T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83	3.93	3.93	0.45458	.	0.396664	0.25076	N	0.033324	T	0.60104	0.2243	L	0.47016	1.485	0.38522	D	0.948762	D;D;D;D;D;D;D;D;D	0.89917	0.968;1.0;1.0;1.0;0.967;1.0;1.0;0.966;0.999	P;D;D;D;P;D;D;B;D	0.80764	0.546;0.994;0.945;0.994;0.734;0.981;0.994;0.321;0.987	T	0.63301	-0.6668	10	0.46703	T	0.11	-22.7831	13.8451	0.63463	0.0:1.0:0.0:0.0	.	307;141;335;287;289;307;289;289;79	B4DIW5;F5GXV6;E9PCL5;F5GXA2;F8WA69;E9PCV2;F5H7Z0;P56945;B3KWE2	.;.;.;.;.;.;.;BCAR1_HUMAN;.	M	289;307;307;289;335;141;289;287;260	ENSP00000162330:V289M;ENSP00000377074:V307M;ENSP00000392708:V307M;ENSP00000443841:V289M;ENSP00000391669:V335M;ENSP00000440370:V141M;ENSP00000377072:V289M;ENSP00000440415:V287M;ENSP00000442161:V260M	ENSP00000162330:V289M	V	-	1	0	BCAR1	73828328	0.976000	0.34144	0.980000	0.43619	0.703000	0.40648	2.234000	0.43035	2.199000	0.70637	0.549000	0.68633	GTG		0.632	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269017.1	NM_014567		T	75270827	C	T	75270827	3	4	721	1	0	0	0	0	1	0	0	0	1348	536	19	1	1817	1	BCAR1	16	75270827	Missense_Mutation	SNP	C	TCGA-KM-8443-01A-11D-2310-10		75270827	15083926	47	40477											
SMCHD1	23347	mdanderson.org	37	18	2707619	2707619	+	Missense_Mutation	SNP	G	G	A	rs2276092	byFrequency	TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr18:2707619G>A	ENST00000320876.6	+	16	2460	c.2122G>A	c.(2122-2124)Gtt>Att	p.V708I	SMCHD1_ENST00000261598.8_Missense_Mutation_p.V708I|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	708			V -> I (in dbSNP:rs2276092).		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						GCCTAATGAGGTTAGGCCTGC	0.363													A|||	3457	0.690296	0.7141	0.7839	5008	,	,		14767	0.6528		0.6909	False		,,,				2504	0.6299															0								A	ILE/VAL	2659,981		969,721,130	179	168	171		2122	0.4	0.4	18	dbSNP_100	171	5737,2423		2009,1719,352	yes	missense	SMCHD1	NM_015295.2	29	2978,2440,482	AA,AG,GG		29.6936,26.9505,28.8475	benign	708/2006	2707619	8396,3404	1820	4080	5900	SO:0001583	missense	23347			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.2122G>A	18.37:g.2707619G>A	ENSP00000326603:p.Val708Ile		O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	37	CCDS45822.1	1490	0.6822344322344323	354	0.7195121951219512	279	0.7707182320441989	348	0.6083916083916084	509	0.6715039577836411	A	11.19	1.566563	0.28003	0.730495	0.703064	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.22539	1.95;1.95	5.46	0.384	0.16244	.	0.723872	0.12914	N	0.428667	T	0.00012	0.0000	N	0.24115	0.695	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.19031	-1.0318	9	0.18710	T	0.47	-1.9438	11.4814	0.50328	0.4902:0.0:0.5098:0.0	rs2276092;rs61228446;rs2276092	708	A6NHR9	SMHD1_HUMAN	I	708	ENSP00000326603:V708I;ENSP00000261598:V708I	ENSP00000261598:V708I	V	+	1	0	SMCHD1	2697619	0.000000	0.05858	0.397000	0.26308	0.982000	0.71751	0.281000	0.18810	-0.155000	0.11098	-0.360000	0.07572	GTT		0.363	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2			A	2707619	G	A	2707619	3	1	721	1	0	0	0	0	1	0	0	0	14794	1261	44	2	2184	2	SMCHD1	18	2707619	Missense_Mutation	SNP	G	TCGA-KM-8443-01A-11D-2310-10		2707619	75369629	48	40478											
SERPINB3	6317	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	18	61323171	61323171	+	Missense_Mutation	SNP	G	G	A	rs377088096		TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr18:61323171G>A	ENST00000283752.5	-	8	1036	c.893C>T	c.(892-894)aCg>aTg	p.T298M	SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Missense_Mutation_p.T246M	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	298					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)	p.T298M(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						GGTTCTCAACGTGTCCTTGAG	0.488																																																1	Substitution - Missense(1)	lung(1)						G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	180	154	163		893	-3.2	0	18		163	0,8600		0,0,4300	no	missense	SERPINB3	NM_006919.2	81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	298/391	61323171	1,13005	2203	4300	6503	SO:0001583	missense	6317			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.893C>T	18.37:g.61323171G>A	ENSP00000283752:p.Thr298Met		A6NDM2|B2RBT5|B3W5Y6|Q53H28|Q53YB5|Q86VF3|Q86W04|Q8IWL4|Q8IXI3|Q96J21|Q9BYF8	Missense_Mutation	SNP	ENST00000283752.5	37	CCDS11987.1	.	.	.	.	.	.	.	.	.	.	G	8.978	0.974626	0.18736	2.27E-4	0.0	ENSG00000057149	ENST00000283752;ENST00000332821	D;D	0.84800	-1.9;-1.9	3.07	-3.17	0.05202	Serpin domain (3);	1.383540	0.04944	N	0.459085	D	0.87732	0.6251	M	0.80746	2.51	0.09310	N	1	B;D	0.55385	0.334;0.971	B;P	0.47941	0.146;0.562	T	0.81123	-0.1076	10	0.66056	D	0.02	.	11.7335	0.51752	0.6699:0.0:0.3301:0.0	.	246;298	P29508-2;P29508	.;SPB3_HUMAN	M	298;246	ENSP00000283752:T298M;ENSP00000329498:T246M	ENSP00000283752:T298M	T	-	2	0	SERPINB3	59474151	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-3.514000	0.00445	-0.831000	0.04256	-0.403000	0.06358	ACG		0.488	SERPINB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133791.1	NM_006919		A	61323171	G	A	61323171	3	1	721	1	0	0	0	0	1	0	0	0	14108	1145	40	1	283	1	SERPINB3	18	61323171	Missense_Mutation	SNP	G	TCGA-KM-8443-01A-11D-2310-10	58615552	61323171	16754077	49	40479											
SEMA6B	10501	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	4557004	4557004	+	Missense_Mutation	SNP	G	G	A			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr19:4557004G>A	ENST00000586582.1	-	5	638	c.328C>T	c.(328-330)Ccc>Tcc	p.P110S	SEMA6B_ENST00000586965.1_Missense_Mutation_p.P110S|SEMA6B_ENST00000301293.3_Missense_Mutation_p.P110S	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	110	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)		ATGTCGCTGGGGTTAGATCTC	0.627																																																0													66	47	54					19																	4557004		2203	4299	6502	SO:0001583	missense	10501			AB022433	CCDS12131.1	19p13.3	2008-07-22				ENSG00000167680		"Semaphorins"	10739	protein-coding gene	gene with protein product	"Sema VIb", "semaphorin Z", "semaphorin VIB"	608873		SEMAN		9361278	Standard	NM_032108		Approved	semaZ, SEMA-VIB, SEM-SEMA-Y	uc010dud.2	Q9H3T3		ENST00000586582.1:c.328C>T	19.37:g.4557004G>A	ENSP00000467290:p.Pro110Ser		A5PKU4|F6IB19|Q9NRK9	Missense_Mutation	SNP	ENST00000586582.1	37	CCDS12131.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.178855	0.38511	.	.	ENSG00000167680	ENST00000301293;ENST00000301292	T	0.10192	2.9	3.7	3.7	0.42460	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.291091	0.33631	N	0.004705	T	0.17152	0.0412	L	0.33710	1.025	0.32361	N	0.557213	B;P	0.46064	0.126;0.872	B;P	0.53988	0.145;0.739	T	0.05084	-1.0907	10	0.62326	D	0.03	.	14.532	0.67934	0.0:0.0:1.0:0.0	.	110;110	B4DT36;Q9H3T3	.;SEM6B_HUMAN	S	110	ENSP00000301293:P110S	ENSP00000301292:P110S	P	-	1	0	SEMA6B	4508004	0.995000	0.38212	0.995000	0.50966	0.234000	0.25298	3.531000	0.53546	2.084000	0.62774	0.313000	0.20887	CCC		0.627	SEMA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458656.2	NM_032108		A	4557004	G	A	4557004	3	1	721	1	0	0	0	0	1	0	0	0	14046	1232	43	2	2390	2	SEMA6B	19	4557004	Missense_Mutation	SNP	G	TCGA-KM-8443-01A-11D-2310-10		4557004	54571979	50	40480											
CLEC4G	339390	ucsc.edu	37	19	7796207	7796207	+	Splice_Site	SNP	T	T	C			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr19:7796207T>C	ENST00000328853.5	-	3	235		c.e3-2		CLEC4G_ENST00000598081.1_5'UTR	NM_001244856.1|NM_198492.3	NP_001231785.1|NP_940894.1	Q6UXB4	CLC4G_HUMAN	C-type lectin domain family 4, member G							integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1)	6						CCGTGGAGGCTGAGGAGAGAG	0.751																																					Esophageal Squamous(146;540 1807 3349 19438 30853)											0													6	6	6					19																	7796207		2130	4188	6318	SO:0001630	splice_region_variant	339390			AY358431	CCDS12185.1	19p13.2	2010-04-27	2008-11-04			ENSG00000182566		"C-type lectin domain containing"	24591	protein-coding gene	gene with protein product			"C-type lectin superfamily 4, member G"			12975309	Standard	NM_198492		Approved	UNQ431, LSECtin	uc002mhp.4	Q6UXB4		ENST00000328853.5:c.167-2A>G	19.37:g.7796207T>C				Splice_Site	SNP	ENST00000328853.5	37	CCDS12185.1	.	.	.	.	.	.	.	.	.	.	T	14.07	2.427072	0.43122	.	.	ENSG00000182566	ENST00000328853	.	.	.	3.47	3.47	0.39725	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.6526	0.34044	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CLEC4G	7702207	0.996000	0.38824	0.935000	0.37517	0.179000	0.23085	1.767000	0.38501	1.801000	0.52704	0.454000	0.30748	.		0.751	CLEC4G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461989.1	NM_198492	Intron	C	7796207	T	C	7796207	5	2	721	1	0	0	0	0	0	0	1	0	3519	1594	55	3	744	3	CLEC4G	19	7796207	Splice_Site	SNP	T	TCGA-KM-8443-01A-11D-2310-10	3239203	7796207	51332776	51	40481											
MYO1F	4542	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	8615207	8615207	+	Missense_Mutation	SNP	T	T	A			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr19:8615207T>A	ENST00000338257.8	-	10	1205	c.938A>T	c.(937-939)gAc>gTc	p.D313V	AC092316.1_ENST00000598703.1_RNA	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	313	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						TCGCCCGCTGTCAATGCCCAG	0.627																																																0													19	22	21					19																	8615207		2022	4193	6215	SO:0001583	missense	4542			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.938A>T	19.37:g.8615207T>A	ENSP00000344871:p.Asp313Val		Q8WWN7	Missense_Mutation	SNP	ENST00000338257.8	37	CCDS42494.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.411157	0.83340	.	.	ENSG00000142347	ENST00000305795;ENST00000338257	D	0.90676	-2.71	5.14	5.14	0.70334	Myosin head, motor domain (2);	0.332056	0.30714	N	0.009038	D	0.94098	0.8108	M	0.91612	3.225	0.80722	D	1	P;P	0.36909	0.573;0.573	P;B	0.45119	0.47;0.367	D	0.94932	0.8083	10	0.87932	D	0	.	14.1276	0.65233	0.0:0.0:0.0:1.0	.	313;313	B0I1T1;O00160	.;MYO1F_HUMAN	V	358;313	ENSP00000344871:D313V	ENSP00000304899:D358V	D	-	2	0	MYO1F	8521207	1.000000	0.71417	0.816000	0.32577	0.926000	0.56050	6.235000	0.72332	1.941000	0.56285	0.455000	0.32223	GAC		0.627	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2			A	8615207	T	A	8615207	3	1	721	1	0	0	0	0	1	0	0	0	10075	1667	58	5	2434	5	MYO1F	19	8615207	Missense_Mutation	SNP	T	TCGA-KM-8443-01A-11D-2310-10	819000	8615207	50513776	52	40482											
RFX1	5989	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	14076447	14076447	+	Missense_Mutation	SNP	G	G	A			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr19:14076447G>A	ENST00000254325.4	-	15	2338	c.2104C>T	c.(2104-2106)Ccc>Tcc	p.P702S		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	702					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)			CTGGGGATGGGCCGCAGCACG	0.662																																																0													75	59	64					19																	14076447		2202	4300	6502	SO:0001583	missense	5989				CCDS12301.1	19p13.1	2008-07-17				ENSG00000132005			9982	protein-coding gene	gene with protein product	"trans-acting regulatory factor 1", "enhancer factor C", "MHC class II regulatory factor RFX"	600006				1505960, 8289803	Standard	NM_002918		Approved	EF-C	uc002mxv.3	P22670		ENST00000254325.4:c.2104C>T	19.37:g.14076447G>A	ENSP00000254325:p.Pro702Ser			Missense_Mutation	SNP	ENST00000254325.4	37	CCDS12301.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.239777	0.79912	.	.	ENSG00000132005	ENST00000254325	T	0.07567	3.18	4.09	4.09	0.47781	.	0.000000	0.85682	D	0.000000	T	0.24890	0.0604	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.01781	-1.1275	10	0.29301	T	0.29	-27.3527	15.2377	0.73443	0.0:0.0:1.0:0.0	.	702	P22670	RFX1_HUMAN	S	702	ENSP00000254325:P702S	ENSP00000254325:P702S	P	-	1	0	RFX1	13937447	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	9.565000	0.98154	2.100000	0.63781	0.462000	0.41574	CCC		0.662	RFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458510.1	NM_002918		A	14076447	G	A	14076447	3	1	721	1	0	0	0	0	1	0	0	0	13268	1203	42	2	863	2	RFX1	19	14076447	Missense_Mutation	SNP	G	TCGA-KM-8443-01A-11D-2310-10	5461240	14076447	45052536	53	40483											
CYP4F2	8529	broad.mit.edu	37	19	16000303	16000303	+	Missense_Mutation	SNP	A	A	G			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr19:16000303A>G	ENST00000221700.6	-	7	943	c.848T>C	c.(847-849)gTt>gCt	p.V283A	CYP4F2_ENST00000011989.7_Missense_Mutation_p.V134A	NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2											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						GAAGTCATCAACACCCTGGCT	0.577																																																0													78	74	76					19																	16000303		2203	4300	6503	SO:0001583	missense	8529			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.848T>C	19.37:g.16000303A>G	ENSP00000221700:p.Val283Ala			Missense_Mutation	SNP	ENST00000221700.6	37	CCDS12336.1	.	.	.	.	.	.	.	.	.	.	a	0.523	-0.861336	0.02610	.	.	ENSG00000186115	ENST00000221700;ENST00000392846;ENST00000011989	T;T	0.69806	-0.43;1.94	2.72	-1.14	0.09741	.	1.188650	0.06624	U	0.757982	T	0.47322	0.1439	L	0.33245	0.995	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.11329	0.006;0.005	T	0.19745	-1.0296	10	0.11485	T	0.65	.	2.902	0.05708	0.5057:0.0:0.2878:0.2066	.	134;283	B4DV75;P78329	.;CP4F2_HUMAN	A	283;134;134	ENSP00000221700:V283A;ENSP00000011989:V134A	ENSP00000011989:V134A	V	-	2	0	CYP4F2	15861303	0.000000	0.05858	0.001000	0.08648	0.803000	0.45373	-0.291000	0.08343	-0.171000	0.10797	0.254000	0.18369	GTT		0.577	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	NM_001082		G	16000303	A	G	16000303	3	3	721	1	0	0	0	0	1	0	0	0	4190	43	2	3	742	3	CYP4F2	19	16000303	Missense_Mutation	SNP	A	TCGA-KM-8443-01A-11D-2310-10	1923856	16000303	43128680	54	40484											
RYR1	6261	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	38976258	38976258	+	Missense_Mutation	SNP	C	C	T	rs371777056		TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr19:38976258C>T	ENST00000359596.3	+	34	4963	c.4963C>T	c.(4963-4965)Cgc>Tgc	p.R1655C	RYR1_ENST00000355481.4_Missense_Mutation_p.R1655C|RYR1_ENST00000360985.3_Missense_Mutation_p.R1655C			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1655	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)	GCTGTCGGAGCGCCTGGACCT	0.627																																																0								C	CYS/ARG,CYS/ARG	1,4399		0,1,2199	44	42	42		4963,4963	4	1	19		42	0,8586		0,0,4293	no	missense,missense	RYR1	NM_000540.2,NM_001042723.1	180,180	0,1,6492	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	1655/5039,1655/5034	38976258	1,12985	2200	4293	6493	SO:0001583	missense	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.4963C>T	19.37:g.38976258C>T	ENSP00000352608:p.Arg1655Cys		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.362048	0.61403	2.27E-4	0.0	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.96830	-4.14;-4.14;-4.14	3.98	3.98	0.46160	.	0.078316	0.48767	U	0.000169	D	0.97081	0.9046	L	0.51422	1.61	0.53005	D	0.999962	D;D	0.89917	1.0;0.999	D;D	0.75020	0.985;0.973	D	0.97725	1.0199	10	0.66056	D	0.02	.	15.8478	0.78905	0.0:1.0:0.0:0.0	.	1655;1655	P21817-2;P21817	.;RYR1_HUMAN	C	1655	ENSP00000352608:R1655C;ENSP00000347667:R1655C;ENSP00000354254:R1655C	ENSP00000347667:R1655C	R	+	1	0	RYR1	43668098	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.839000	0.69395	2.043000	0.60533	0.650000	0.86243	CGC		0.627	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			T	38976258	C	T	38976258	3	4	721	1	0	0	0	0	1	0	0	0	13774	768	27	1	5097	1	RYR1	19	38976258	Missense_Mutation	SNP	C	TCGA-KM-8443-01A-11D-2310-10	22975955	38976258	20152725	55	40485											
RSPH6A	81492	ucsc.edu	37	19	46318402	46318402	+	Silent	SNP	A	A	G			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr19:46318402A>G	ENST00000221538.3	-	1	175	c.33T>C	c.(31-33)ccT>ccC	p.P11P	RSPH6A_ENST00000597055.1_Silent_p.P11P|SYMPK_ENST00000598155.1_5'Flank	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	11						intracellular (GO:0005622)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						GCTGCTGGGCAGGGCGCTCAG	0.677																																																0													12	13	13					19																	46318402		2190	4279	6469	SO:0001819	synonymous_variant	81492			AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"radial spokehead-like 1"	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.33T>C	19.37:g.46318402A>G			Q53FE2|Q6PEZ9	Silent	SNP	ENST00000221538.3	37	CCDS12675.1																																																																																				0.677	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461657.1			G	46318402	A	G	46318402	2	3	721	1	0	0	0	0	0	0	0	1	13713	175	7	3		3	RSPH6A	19	46318402	Silent	SNP	A	TCGA-KM-8443-01A-11D-2310-10	7342144	46318402	12810581	56	40486											
EHD2	30846	broad.mit.edu;bcgsc.ca	37	19	48220038	48220038	+	Missense_Mutation	SNP	G	G	A	rs34140460	byFrequency	TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr19:48220038G>A	ENST00000263277.3	+	2	420	c.169G>A	c.(169-171)Ggc>Agc	p.G57S	CTD-2571L23.8_ENST00000599924.1_lincRNA|EHD2_ENST00000538399.1_Intron	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	57	Dynamin-type G.		G -> S (in dbSNP:rs34140460).		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)		AGACTTCGACGGCAAGCCCAT	0.682													G|||	6	0.00119808	0.0045	0.0	5008	,	,		16363	0.0		0.0	False		,,,				2504	0.0															0								G	SER/GLY	16,4390	22.3+/-47.3	0,16,2187	38	31	33		169	2.7	1	19	dbSNP_126	33	0,8600		0,0,4300	yes	missense	EHD2	NM_014601.3	56	0,16,6487	AA,AG,GG		0.0,0.3631,0.123	benign	57/544	48220038	16,12990	2203	4300	6503	SO:0001583	missense	30846			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.169G>A	19.37:g.48220038G>A	ENSP00000263277:p.Gly57Ser		B2RDH9|B4DNU6|Q96CB6	Missense_Mutation	SNP	ENST00000263277.3	37	CCDS12704.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	11.14	1.551905	0.27739	0.003631	0.0	ENSG00000024422	ENST00000263277;ENST00000539439;ENST00000540364	D	0.95342	-3.68	3.75	2.7	0.31948	.	0.182929	0.46758	N	0.000267	T	0.75946	0.3919	N	0.02539	-0.55	0.80722	D	1	B	0.11235	0.004	B	0.08055	0.003	T	0.68938	-0.5277	10	0.17369	T	0.5	-30.8741	6.1058	0.20073	0.2377:0.0:0.7623:0.0	rs34140460	57	Q9NZN4	EHD2_HUMAN	S	57	ENSP00000263277:G57S	ENSP00000263277:G57S	G	+	1	0	EHD2	52911850	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	3.462000	0.53042	0.931000	0.37242	0.407000	0.27541	GGC		0.682	EHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465851.1			A	48220038	G	A	48220038	3	1	721	1	0	0	0	0	1	0	0	0	4980	1116	39	1	171	1	EHD2	19	48220038	Missense_Mutation	SNP	G	TCGA-KM-8443-01A-11D-2310-10	1901636	48220038	10908945	57	40487											
RNF160	26046	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	21	30331996	30331996	+	Missense_Mutation	SNP	C	C	T			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr21:30331996C>T	ENST00000361371.5	-	13	2456	c.2377G>A	c.(2377-2379)Gtt>Att	p.V793I	LTN1_ENST00000389194.2_Missense_Mutation_p.V839I			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	793					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						ATTCTTTCAACATATACGTCT	0.279																																																0													36	31	33					21																	30331996		2203	4300	6503	SO:0001583	missense	26046			AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"RING-type (C3HC4) zinc fingers"	13082	protein-coding gene	gene with protein product	"listerin"	613083	"chromosome 21 open reading frame 98", "zinc finger protein 294", "ring finger protein 160"	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.2377G>A	21.37:g.30331996C>T	ENSP00000354977:p.Val793Ile		A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	ENST00000361371.5	37		.	.	.	.	.	.	.	.	.	.	C	14.19	2.460243	0.43736	.	.	ENSG00000198862	ENST00000389194;ENST00000361371	T;T	0.19532	2.14;2.15	5.65	2.78	0.32641	.	0.346007	0.30602	N	0.009270	T	0.10035	0.0246	N	0.08118	0	0.51767	D	0.999939	B	0.24721	0.11	B	0.16722	0.016	T	0.11966	-1.0566	10	0.54805	T	0.06	.	8.7649	0.34698	0.1226:0.7461:0.0:0.1313	.	793	O94822	LTN1_HUMAN	I	839;793	ENSP00000373846:V839I;ENSP00000354977:V793I	ENSP00000354977:V793I	V	-	1	0	LTN1	29253867	1.000000	0.71417	0.994000	0.49952	0.599000	0.36880	1.160000	0.31761	0.911000	0.36747	0.655000	0.94253	GTT		0.279	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565		T	30331996	C	T	30331996	3	4	721	1	0	0	0	0	1	0	0	0	13461	478	17	2	2995	2	RNF160	21	30331996	Missense_Mutation	SNP	C	TCGA-KM-8443-01A-11D-2310-10		30331996	17797899	58	40488											
MX2	4600	bcgsc.ca	37	21	42770882	42770882	+	Missense_Mutation	SNP	A	A	G			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr21:42770882A>G	ENST00000330714.3	+	9	1392	c.1208A>G	c.(1207-1209)gAg>gGg	p.E403G	MX2_ENST00000496774.1_3'UTR	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	MX dynamin-like GTPase 2	403					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)				GCGACCGAGGAGCTGCGGCGT	0.517																																																0													82	87	86					21																	42770882		2203	4300	6503	SO:0001583	missense	4600				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.1208A>G	21.37:g.42770882A>G	ENSP00000333657:p.Glu403Gly		B7Z5D3|D3DSI7	Missense_Mutation	SNP	ENST00000330714.3	37	CCDS13672.1	.	.	.	.	.	.	.	.	.	.	A	15.80	2.940961	0.52972	.	.	ENSG00000183486	ENST00000330714	T	0.78816	-1.21	3.94	3.94	0.45596	Dynamin central domain (1);	0.110683	0.64402	D	0.000013	D	0.88411	0.6429	M	0.88570	2.965	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89852	0.4010	10	0.87932	D	0	-27.61	10.8405	0.46712	1.0:0.0:0.0:0.0	.	403	P20592	MX2_HUMAN	G	403	ENSP00000333657:E403G	ENSP00000333657:E403G	E	+	2	0	MX2	41692752	1.000000	0.71417	0.994000	0.49952	0.066000	0.16364	3.858000	0.55979	1.731000	0.51592	0.482000	0.46254	GAG		0.517	MX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195147.1	NM_002463		G	42770882	A	G	42770882	3	3	721	1	0	0	0	0	1	0	0	0	10000	304	11	3	1238	3	MX2	21	42770882	Missense_Mutation	SNP	A	TCGA-KM-8443-01A-11D-2310-10	12438886	42770882	5359013	59	40489											
MCM3AP	8888	ucsc.edu	37	21	47697480	47697480	+	Missense_Mutation	SNP	A	A	G			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr21:47697480A>G	ENST00000397708.1	-	6	2073	c.1819T>C	c.(1819-1821)Tac>Cac	p.Y607H	MCM3AP_ENST00000291688.1_Missense_Mutation_p.Y607H			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	607					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)					AGCAGGCGGTACTTCTCCTTG	0.592																																																0													163	132	143					21																	47697480		2203	4300	6503	SO:0001583	missense	8888			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.1819T>C	21.37:g.47697480A>G	ENSP00000380820:p.Tyr607His		C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	37	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	A	28.5	4.927853	0.92389	.	.	ENSG00000160294	ENST00000397708;ENST00000291688	T;T	0.04706	3.57;3.57	5.74	5.74	0.90152	.	0.057126	0.64402	D	0.000001	T	0.19886	0.0478	M	0.68952	2.095	0.58432	D	0.999999	D	0.71674	0.998	D	0.78314	0.991	T	0.00189	-1.1938	10	0.45353	T	0.12	-19.4308	16.0421	0.80691	1.0:0.0:0.0:0.0	.	607	O60318	MCM3A_HUMAN	H	607	ENSP00000380820:Y607H;ENSP00000291688:Y607H	ENSP00000291688:Y607H	Y	-	1	0	MCM3AP	46521908	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.131000	0.94446	2.192000	0.70111	0.533000	0.62120	TAC		0.592	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		G	47697480	A	G	47697480	3	3	721	1	0	0	0	0	1	0	0	0	9390	391	14	3	4219	3	MCM3AP	21	47697480	Missense_Mutation	SNP	A	TCGA-KM-8443-01A-11D-2310-10	4926598	47697480	432415	60	40490											
CSF2RB	1439	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	22	37334203	37334203	+	Missense_Mutation	SNP	G	G	T			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr22:37334203G>T	ENST00000403662.3	+	14	2575	c.2353G>T	c.(2353-2355)Gtc>Ttc	p.V785F	CSF2RB_ENST00000406230.1_Missense_Mutation_p.V791F|CSF2RB_ENST00000536485.1_Missense_Mutation_p.V732F|CSF2RB_ENST00000262825.5_Missense_Mutation_p.V791F			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	785					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)	GAACAATCCTGTCCCCCCTGA	0.642																																																0													52	51	51					22																	37334203		2203	4300	6503	SO:0001583	missense	1439			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.2353G>T	22.37:g.37334203G>T	ENSP00000384053:p.Val785Phe		Q5JZI1|Q6ICE0	Missense_Mutation	SNP	ENST00000403662.3	37	CCDS13936.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.954914	0.53293	.	.	ENSG00000100368	ENST00000403662;ENST00000539104;ENST00000262825;ENST00000406230;ENST00000536485	D;D;D;D	0.92397	-2.52;-3.03;-3.03;-3.03	5.38	1.62	0.23740	.	0.614872	0.14560	N	0.312136	D	0.88994	0.6589	L	0.29908	0.895	0.09310	N	1	D;D	0.61080	0.986;0.989	P;P	0.54100	0.742;0.726	T	0.79964	-0.1581	10	0.52906	T	0.07	-8.6352	5.7541	0.18162	0.1998:0.1672:0.633:0.0	.	791;785	P32927-2;P32927	.;IL3RB_HUMAN	F	785;785;791;791;732	ENSP00000384053:V785F;ENSP00000262825:V791F;ENSP00000385271:V791F;ENSP00000440003:V732F	ENSP00000262825:V791F	V	+	1	0	CSF2RB	35664149	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	0.125000	0.15749	0.632000	0.30432	0.555000	0.69702	GTC		0.642	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318854.1	NM_000395		T	37334203	G	T	37334203	3	4	721	1	0	0	0	0	1	0	0	0	3937	1377	48	4	2403	4	CSF2RB	22	37334203	Missense_Mutation	SNP	G	TCGA-KM-8443-01A-11D-2310-10		37334203	13970363	61	40491											
TTLL1	25809	broad.mit.edu	37	22	43459837	43459837	+	Silent	SNP	G	G	A			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr22:43459837G>A	ENST00000266254.7	-	7	969	c.729C>T	c.(727-729)gtC>gtT	p.V243V	TTLL1_ENST00000331018.7_Silent_p.V243V	NM_012263.4	NP_036395.1	O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	243	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				axoneme assembly (GO:0035082)|epithelial cilium movement (GO:0003351)|protein polyglutamylation (GO:0018095)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	tubulin-glutamic acid ligase activity (GO:0070740)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		TCTGGATGGCGACGTTGGTGA	0.532																																																0													219	189	199					22																	43459837		2203	4300	6503	SO:0001819	synonymous_variant	25809			AL096886	CCDS14043.1	22q13.1	2013-02-14			ENSG00000100271	ENSG00000100271		"Tubulin tyrosine ligase-like family"	1312	protein-coding gene	gene with protein product		608955	"tubulin tyrosine ligase-like 1"	C22orf7		10591208, 11054573	Standard	NM_012263		Approved		uc003bdi.3	O95922	OTTHUMG00000150699	ENST00000266254.7:c.729C>T	22.37:g.43459837G>A			B2RDS7|Q9BR27|Q9NRS9|Q9UMU0	Silent	SNP	ENST00000266254.7	37	CCDS14043.1	.	.	.	.	.	.	.	.	.	.	G	10.04	1.241791	0.22711	.	.	ENSG00000100271	ENST00000495814	.	.	.	5.98	-12.0	0.00017	.	.	.	.	.	T	0.40815	0.1132	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52041	-0.8628	4	.	.	.	.	5.8419	0.18639	0.4626:0.2157:0.2617:0.06	.	.	.	.	L	169	.	.	S	-	2	0	TTLL1	41789781	0.019000	0.18553	0.798000	0.32154	0.939000	0.58152	-0.794000	0.04584	-1.237000	0.02539	-0.964000	0.02622	TCG		0.532	TTLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319659.1	NM_012263		A	43459837	G	A	43459837	2	1	721	1	0	0	0	0	0	0	0	1	16727	1045	37	1		1	TTLL1	22	43459837	Silent	SNP	G	TCGA-KM-8443-01A-11D-2310-10	6125634	43459837	7844729	62	40492											
ARHGAP8	23779	ucsc.edu	37	22	45243892	45243892	+	Missense_Mutation	SNP	T	T	C			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr22:45243892T>C	ENST00000389774.2	+	10	944	c.803T>C	c.(802-804)gTg>gCg	p.V268A	ARHGAP8_ENST00000356099.6_Missense_Mutation_p.V237A|ARHGAP8_ENST00000389773.5_Missense_Mutation_p.V359A|ARHGAP8_ENST00000517296.3_Missense_Mutation_p.V447A|ARHGAP8_ENST00000336963.4_Missense_Mutation_p.V237A|PRR5-ARHGAP8_ENST00000361473.5_Missense_Mutation_p.V368A|PRR5-ARHGAP8_ENST00000352766.7_Missense_Mutation_p.V447A	NM_001017526.1	NP_001017526.1	P85298	RHG08_HUMAN	Rho GTPase activating protein 8	268	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)		TCCGCCAGCGTGCAGACCGTC	0.662																																																0													66	58	61					22																	45243892		2203	4300	6503	SO:0001583	missense	553158			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.803T>C	22.37:g.45243892T>C	ENSP00000374424:p.Val268Ala		A6ZJ79|A6ZJ80|O75983|O95695|Q96RW1|Q96RW2|Q9HA49|Q9HC46|Q9NSG0|Q9NVX8|Q9NXL1|Q9UH20	Missense_Mutation	SNP	ENST00000389774.2	37	CCDS33664.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	2.592|2.592	-0.294895|-0.294895	0.05568|0.05568	.|.	.|.	ENSG00000248405|ENSG00000248405;ENSG00000248405;ENSG00000241484;ENSG00000241484;ENSG00000241484;ENSG00000241484;ENSG00000241484	ENST00000515632|ENST00000361473;ENST00000352766;ENST00000517296;ENST00000389773;ENST00000389774;ENST00000336963;ENST00000356099	.|T;T;T;T;T;T;T	.|0.16324	.|2.35;2.35;2.35;2.35;2.35;2.35;2.35	4.67|4.67	-0.485|-0.485	0.12067|0.12067	.|Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	.|0.215683	.|0.23077	.|N	.|0.052192	T|T	0.06234|0.06234	0.0161|0.0161	N|N	0.05306|0.05306	-0.075|-0.075	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B;B;B	.|0.15930	.|0.001;0.001;0.012;0.001;0.001;0.001;0.015	.|B;B;B;B;B;B;B	.|0.19946	.|0.008;0.008;0.011;0.002;0.012;0.01;0.027	T|T	0.42531|0.42531	-0.9446|-0.9446	5|10	.|0.09843	.|T	.|0.71	.|.	8.0784|8.0784	0.30731|0.30731	0.0:0.5089:0.0:0.4911|0.0:0.5089:0.0:0.4911	.|.	.|273;237;273;268;278;447;368	.|B7ZMA4;A6ZJ79;A2RU51;P85298;Q6PCC7;B1AHC4;B1AHC3	.|.;.;.;RHG08_HUMAN;.;.;.	R|A	291|368;447;447;359;268;237;237	.|ENSP00000354732:V368A;ENSP00000262731:V447A;ENSP00000429240:V447A;ENSP00000374423:V359A;ENSP00000374424:V268A;ENSP00000337287:V237A;ENSP00000348407:V237A	.|ENSP00000337287:V237A	C|V	+|+	1|2	0|0	PRR5-ARHGAP8|PRR5-ARHGAP8;ARHGAP8	43622556|43622556	0.208000|0.208000	0.23494|0.23494	0.002000|0.002000	0.10522|0.10522	0.092000|0.092000	0.18411|0.18411	1.180000|1.180000	0.32005|0.32005	-0.310000|-0.310000	0.08766|0.08766	-0.253000|-0.253000	0.11424|0.11424	TGC|GTG		0.662	ARHGAP8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000075088.4	NM_017701		C	45243892	T	C	45243892	3	2	721	1	0	0	0	0	1	0	0	0	888	1696	59	3	837	3	ARHGAP8	22	45243892	Missense_Mutation	SNP	T	TCGA-KM-8443-01A-11D-2310-10	1784055	45243892	6060674	63	40493											
NUP50	10762	mdanderson.org	37	22	45574342	45574342	+	Silent	SNP	A	A	G			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr22:45574342A>G	ENST00000347635.4	+	5	1030	c.564A>G	c.(562-564)aaA>aaG	p.K188K	NUP50_ENST00000396096.2_Silent_p.K160K|NUP50_ENST00000425733.2_5'UTR|NUP50_ENST00000407019.2_Silent_p.K160K|CTA-268H5.12_ENST00000610217.1_RNA	NM_007172.3	NP_009103.2	Q9UKX7	NUP50_HUMAN	nucleoporin 50kDa	188	5 X 2 AA repeats of F-G.|Binding to CDKN1B. {ECO:0000250}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intracellular transport (GO:0046907)|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)	nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		CTATCTTTAAAGACTATGAGA	0.453																																																0													42	42	42					22																	45574342		2202	4296	6498	SO:0001819	synonymous_variant	10762			AF107840	CCDS14062.1, CCDS14063.1	22q13.3	2007-01-22	2002-08-29		ENSG00000093000	ENSG00000093000			8065	protein-coding gene	gene with protein product		604646	"nucleoporin 50kD"	NPAP60L		10449902	Standard	XM_005261312		Approved		uc003bfr.3	Q9UKX7	OTTHUMG00000151265	ENST00000347635.4:c.564A>G	22.37:g.45574342A>G			B1AHA4|B2RB15|O75644|Q8N6V5|Q9NPM9|Q9NPR6|Q9P1K5	Silent	SNP	ENST00000347635.4	37	CCDS14062.1																																																																																				0.453	NUP50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321993.2			G	45574342	A	G	45574342	2	3	721	1	0	0	0	0	0	0	0	1	10768	69	3	3		3	NUP50	22	45574342	Silent	SNP	A	TCGA-KM-8443-01A-11D-2310-10	330450	45574342	5730224	64	40494											
MAGEC1	9947	mdanderson.org	37	X	140994087	140994087	+	Silent	SNP	C	C	A			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chrX:140994087C>A	ENST00000285879.4	+	4	1183	c.897C>A	c.(895-897)ccC>ccA	p.P299P	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	299				P -> A (in Ref. 1 and 2). {ECO:0000305}.						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)					AGGGTTTTCCCCAGTCTCCTC	0.493										HNSCC(15;0.026)																																						0													124	116	119					X																	140994087		2199	4293	6492	SO:0001819	synonymous_variant	9947			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.897C>A	X.37:g.140994087C>A			A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	CCDS35417.1																																																																																				0.493	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		A	140994087	C	A	140994087	2	1	721	1	0	0	0	0	0	0	0	1	9182	610	22	4		4	MAGEC1	23	140994087	Silent	SNP	C	TCGA-KM-8443-01A-11D-2310-10		140994087	14276473	65	40495											
PLEKHG5	57449	ucsc.edu	37	1	6531590	6531590	+	Silent	SNP	T	T	C			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr1:6531590T>C	ENST00000400915.3	-	13	1473	c.1407A>G	c.(1405-1407)cgA>cgG	p.R469R	PLEKHG5_ENST00000377737.2_Silent_p.R413R|PLEKHG5_ENST00000537245.1_Silent_p.R492R|PLEKHG5_ENST00000377740.3_Silent_p.R490R|PLEKHG5_ENST00000535355.1_Silent_p.R482R|PLEKHG5_ENST00000377732.1_Silent_p.R450R|PLEKHG5_ENST00000377748.1_Silent_p.R490R|PLEKHG5_ENST00000377728.3_Silent_p.R413R|PLEKHG5_ENST00000400913.1_Silent_p.R413R|PLEKHG5_ENST00000544978.1_Silent_p.R413R|PLEKHG5_ENST00000377725.1_Silent_p.R413R|PLEKHG5_ENST00000340850.5_Silent_p.R413R	NM_001042663.1	NP_001036128.1	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	469	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				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)		GTAGCAGCGCTCGCGTGCGCC	0.706																																																0													13	17	15					1																	6531590		2198	4283	6481	SO:0001819	synonymous_variant	57449			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.1407A>G	1.37:g.6531590T>C			B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1	Silent	SNP	ENST00000400915.3	37	CCDS41241.1																																																																																				0.706	PLEKHG5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002631.1	NM_020631		C	6531590	T	C	6531590	2	2	722	1	0	0	0	0	0	0	0	1	12075	1538	54	3		3	PLEKHG5	1	6531590	Silent	SNP	T	TCGA-KM-8476-01A-11D-2310-10		6531590	242719031	1	40496											
SFPQ	6421	ucsc.edu;bcgsc.ca	37	1	35658491	35658491	+	Missense_Mutation	SNP	T	T	C			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr1:35658491T>C	ENST00000357214.5	-	1	258	c.160A>G	c.(160-162)Agc>Ggc	p.S54G		NM_005066.2	NP_005057.1	P23246	SFPQ_HUMAN	splicing factor proline/glutamine-rich	54	Gln/Glu/Pro-rich.				alternative mRNA splicing, via spliceosome (GO:0000380)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H3 deacetylation (GO:0070932)|mRNA processing (GO:0006397)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|histone deacetylase binding (GO:0042826)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)		SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				TTAGGGCCGCTCTGGCCCGGG	0.731			T	TFE3	papillary renal cell																																		Dom	yes		1	1p34.3	6421	splicing factor proline/glutamine rich(polypyrimidine tract binding protein associated)		E	0													11	13	12					1																	35658491		1964	3988	5952	SO:0001583	missense	6421			X70944	CCDS388.1	1p34.3	2014-06-13	2010-05-04		ENSG00000116560	ENSG00000116560		"RNA binding motif (RRM) containing"	10774	protein-coding gene	gene with protein product	"polypyrimidine tract binding protein associated", "protein phosphatase 1, regulatory subunit 140"	605199	"splicing factor proline/glutamine rich (polypyrimidine tract-binding protein-associated)"			8449401	Standard	NM_005066		Approved	PSF, PPP1R140	uc001bys.3	P23246	OTTHUMG00000004157	ENST00000357214.5:c.160A>G	1.37:g.35658491T>C	ENSP00000349748:p.Ser54Gly		P30808|Q5SZ71	Missense_Mutation	SNP	ENST00000357214.5	37	CCDS388.1	.	.	.	.	.	.	.	.	.	.	T	5.418	0.262247	0.10239	.	.	ENSG00000116560	ENST00000357214	T	0.24350	1.86	2.69	0.382	0.16234	.	2.256580	0.01555	N	0.019877	T	0.13628	0.0330	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17745	-1.0359	10	0.22706	T	0.39	.	5.7667	0.18231	0.0:0.6264:0.0:0.3736	.	54	P23246	SFPQ_HUMAN	G	54	ENSP00000349748:S54G	ENSP00000349748:S54G	S	-	1	0	SFPQ	35431078	0.004000	0.15560	0.884000	0.34674	0.067000	0.16453	0.060000	0.14342	0.317000	0.23160	-0.425000	0.05940	AGC		0.731	SFPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011984.4	NM_005066		C	35658491	T	C	35658491	3	2	722	1	0	0	0	0	1	0	0	0	14166	1551	54	3	2003	3	SFPQ	1	35658491	Missense_Mutation	SNP	T	TCGA-KM-8476-01A-11D-2310-10	29126901	35658491	213592130	2	40497											
CAP1	5538	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	1	40537164	40537164	+	IGR	SNP	G	G	A			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr1:40537164G>A	ENST00000433473.3	-	0	2740				CAP1_ENST00000372797.3_Missense_Mutation_p.G463R|CAP1_ENST00000372792.2_Missense_Mutation_p.G463R|CAP1_ENST00000372798.1_Missense_Mutation_p.G462R|CAP1_ENST00000479759.1_3'UTR|CAP1_ENST00000340450.3_Missense_Mutation_p.G462R|CAP1_ENST00000372802.1_Missense_Mutation_p.G462R|PPT1_ENST00000372775.2_5'Flank|CAP1_ENST00000372805.3_Missense_Mutation_p.G463R	NM_000310.3	NP_000301.1	P50897	PPT1_HUMAN	palmitoyl-protein thioesterase 1						adult locomotory behavior (GO:0008344)|associative learning (GO:0008306)|brain development (GO:0007420)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cofactor metabolic process (GO:0051186)|cofactor transport (GO:0051181)|grooming behavior (GO:0007625)|lipid catabolic process (GO:0016042)|lysosomal lumen acidification (GO:0007042)|membrane raft organization (GO:0031579)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|neuron development (GO:0048666)|neurotransmitter secretion (GO:0007269)|pinocytosis (GO:0006907)|positive regulation of pinocytosis (GO:0048549)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein catabolic process (GO:0030163)|protein depalmitoylation (GO:0002084)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|regulation of phospholipase A2 activity (GO:0032429)|regulation of synapse structure and activity (GO:0050803)|sphingolipid catabolic process (GO:0030149)|visual perception (GO:0007601)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)	palmitoyl-(protein) hydrolase activity (GO:0008474)|palmitoyl-CoA hydrolase activity (GO:0016290)			endometrium(5)|large_intestine(1)|lung(3)|ovary(1)|stomach(1)	11	Lung NSC(20;3.43e-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;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCTATGGAACGGGCAGAAGTT	0.463																																																0													73	66	68					1																	40537164		1897	4098	5995	SO:0001628	intergenic_variant	10487			U44772	CCDS447.1, CCDS44119.1	1p32	2014-09-17	2008-07-31		ENSG00000131238	ENSG00000131238	3.1.2.22		9325	protein-coding gene	gene with protein product	"ceroid-lipofuscinosis, neuronal 1, infantile"	600722		PPT		7637805, 8325646	Standard	NM_000310		Approved	CLN1, INCL	uc001cfb.2	P50897	OTTHUMG00000004495		1.37:g.40537164G>A			B4DY24|Q6FGQ4	Missense_Mutation	SNP	ENST00000433473.3	37	CCDS447.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.736430	0.89482	.	.	ENSG00000131236	ENST00000372797;ENST00000372802;ENST00000372792;ENST00000538246;ENST00000372798;ENST00000340450;ENST00000372805	T;T;T;T;T;T	0.09073	3.02;3.02;3.02;3.02;3.02;3.02	5.45	5.45	0.79879	Cyclase-associated protein CAP/septum formation inhibitor MinC, C-terminal (1);Adenylate cyclase-associated CAP, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.32496	0.0831	M	0.90082	3.085	0.80722	D	1	P;D	0.64830	0.925;0.994	B;P	0.56474	0.409;0.799	T	0.23940	-1.0174	10	0.87932	D	0	-6.457	18.4515	0.90705	0.0:0.0:1.0:0.0	.	410;463	E7ENY9;Q01518	.;CAP1_HUMAN	R	463;462;463;440;462;462;463	ENSP00000361883:G463R;ENSP00000361888:G462R;ENSP00000361878:G463R;ENSP00000361884:G462R;ENSP00000344832:G462R;ENSP00000361891:G463R	ENSP00000344832:G462R	G	+	1	0	CAP1	40309751	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.507000	0.97996	2.838000	0.97847	0.650000	0.86243	GGG		0.463	PPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000013126.2	NM_000310		A	40537164	G	A	40537164	1	1	722	0	1	0	0	0	0	0	0	0	2621	1116	39	1		1	CAP1	1	40537164	IGR	SNP	G	TCGA-KM-8476-01A-11D-2310-10	4878673	40537164	208713457	3	40498											
TCHHL1	126637	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	152060616	152060616	+	Missense_Mutation	SNP	G	G	A			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr1:152060616G>A	ENST00000368806.1	-	2	68	c.4C>T	c.(4-6)Cct>Tct	p.P2S		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	2							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)			AGGAGCTGAGGCATCTTTACA	0.448																																																0													78	74	76					1																	152060616		2203	4300	6503	SO:0001583	missense	126637				CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"S100 calcium binding proteins"	31796	protein-coding gene	gene with protein product			"S100 calcium binding protein A17"	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.4C>T	1.37:g.152060616G>A	ENSP00000357796:p.Pro2Ser		B2RPK8|Q5VTJ9	Missense_Mutation	SNP	ENST00000368806.1	37	CCDS30857.1	.	.	.	.	.	.	.	.	.	.	.	11.63	1.695254	0.30052	.	.	ENSG00000182898	ENST00000368806	T	0.11821	2.74	5.9	4.02	0.46733	EF-hand-like domain (1);	0.000000	0.36101	N	0.002784	T	0.08492	0.0211	L	0.35542	1.07	0.31578	N	0.655416	D	0.67145	0.996	D	0.66084	0.941	T	0.04294	-1.0962	10	0.09843	T	0.71	-2.446	9.5029	0.39028	0.165:0.0:0.835:0.0	.	2	Q5QJ38	TCHL1_HUMAN	S	2	ENSP00000357796:P2S	ENSP00000357796:P2S	P	-	1	0	TCHHL1	150327240	0.999000	0.42202	0.987000	0.45799	0.256000	0.26092	0.457000	0.21875	0.813000	0.34350	0.655000	0.94253	CCT		0.448	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2	XM_060104		A	152060616	G	A	152060616	3	1	722	1	0	0	0	0	1	0	0	0	15706	1203	42	2	2718	2	TCHHL1	1	152060616	Missense_Mutation	SNP	G	TCGA-KM-8476-01A-11D-2310-10	111523452	152060616	97190005	4	40499											
HRNR	388697	mdanderson.org	37	1	152187510	152187510	+	Missense_Mutation	SNP	C	C	T			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr1:152187510C>T	ENST00000368801.2	-	3	6670	c.6595G>A	c.(6595-6597)Ggc>Agc	p.G2199S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2199					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)			CCATGTTGGCCGTGGCTGGAG	0.632																																																0													49	66	61					1																	152187510		2172	4285	6457	SO:0001583	missense	388697			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.6595G>A	1.37:g.152187510C>T	ENSP00000357791:p.Gly2199Ser		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	8.711	0.912060	0.17907	.	.	ENSG00000197915	ENST00000368801	T	0.17370	2.28	3.28	0.982	0.19762	.	.	.	.	.	T	0.01156	0.0038	N	0.04880	-0.145	0.09310	N	1	P	0.48162	0.906	B	0.27380	0.079	T	0.37197	-0.9716	9	0.11794	T	0.64	.	5.1396	0.14952	0.0:0.51:0.0:0.49	rs61814942	2199	Q86YZ3	HORN_HUMAN	S	2199	ENSP00000357791:G2199S	ENSP00000357791:G2199S	G	-	1	0	HRNR	150454134	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-1.145000	0.03194	0.054000	0.16065	0.558000	0.71614	GGC		0.632	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		T	152187510	C	T	152187510	3	4	722	1	0	0	0	0	1	0	0	0	7361	652	23	1	1961	1	HRNR	1	152187510	Missense_Mutation	SNP	C	TCGA-KM-8476-01A-11D-2310-10	126894	152187510	97063111	5	40500											
RC3H1	149041	mdanderson.org;bcgsc.ca	37	1	173921192	173921192	+	Missense_Mutation	SNP	C	C	A			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr1:173921192C>A	ENST00000367696.2	-	14	2806	c.2455G>T	c.(2455-2457)Ggc>Tgc	p.G819C	RC3H1_ENST00000367694.2_Missense_Mutation_p.G819C|RC3H1_ENST00000258349.4_Missense_Mutation_p.G819C			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	819					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						ATGTAGGAGCCGATGGTGTCA	0.408																																																0													143	124	131					1																	173921192		2203	4300	6503	SO:0001583	missense	149041			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.2455G>T	1.37:g.173921192C>A	ENSP00000356669:p.Gly819Cys		B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Missense_Mutation	SNP	ENST00000367696.2	37	CCDS30940.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.895293	0.91962	.	.	ENSG00000135870	ENST00000367696;ENST00000258349;ENST00000367694	T;T;T	0.59638	0.26;0.26;0.25	5.77	5.77	0.91146	.	0.043803	0.85682	N	0.000000	T	0.67915	0.2944	L	0.55481	1.735	0.80722	D	1	D;D;D;D	0.67145	0.993;0.993;0.996;0.993	P;P;D;P	0.65874	0.87;0.87;0.939;0.87	T	0.69030	-0.5253	10	0.72032	D	0.01	-12.1335	19.9913	0.97366	0.0:1.0:0.0:0.0	.	819;819;819;819	B9EGU6;B7ZMB3;Q5TC82-2;Q5TC82	.;.;.;RC3H1_HUMAN	C	819	ENSP00000356669:G819C;ENSP00000258349:G819C;ENSP00000356667:G819C	ENSP00000258349:G819C	G	-	1	0	RC3H1	172187815	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.761000	0.68801	2.734000	0.93682	0.585000	0.79938	GGC		0.408	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090733.2	NM_172071		A	173921192	C	A	173921192	3	1	722	1	0	0	0	0	1	0	0	0	13172	652	23	4	974	4	RC3H1	1	173921192	Missense_Mutation	SNP	C	TCGA-KM-8476-01A-11D-2310-10	21733682	173921192	75329429	6	40501											
OR2M2	391194	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	1	248343361	248343361	+	Missense_Mutation	SNP	C	C	T	rs146796261		TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr1:248343361C>T	ENST00000359682.2	+	1	74	c.74C>T	c.(73-75)aCg>aTg	p.T25M		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	25						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)			CCACCACACACGTTCCTCTTC	0.498																																																0								C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	255	248	250		74	-2.9	0	1	dbSNP_134	250	0,8600		0,0,4300	no	missense	OR2M2	NM_001004688.1	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	25/348	248343361	1,13005	2203	4300	6503	SO:0001583	missense	391194			AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"GPCR / Class A : Olfactory receptors"	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.74C>T	1.37:g.248343361C>T	ENSP00000352710:p.Thr25Met		A3KFT4	Missense_Mutation	SNP	ENST00000359682.2	37	CCDS31106.1	.	.	.	.	.	.	.	.	.	.	c	4.933	0.173437	0.09391	2.27E-4	0.0	ENSG00000198601	ENST00000359682	T	0.00441	7.41	1.44	-2.87	0.05700	.	1.263570	0.06373	U	0.713836	T	0.00178	0.0005	N	0.20574	0.59	0.09310	N	1	P	0.42337	0.776	B	0.28991	0.097	T	0.30060	-0.9991	10	0.34782	T	0.22	.	0.3199	0.00301	0.3623:0.2502:0.1964:0.191	.	25	Q96R28	OR2M2_HUMAN	M	25	ENSP00000352710:T25M	ENSP00000352710:T25M	T	+	2	0	OR2M2	246409984	0.000000	0.05858	0.015000	0.15790	0.152000	0.21847	-1.494000	0.02296	-0.693000	0.05121	0.298000	0.19748	ACG		0.498	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		T	248343361	C	T	248343361	3	4	722	1	0	0	0	0	1	0	0	0	11012	536	19	1	76	1	OR2M2	1	248343361	Missense_Mutation	SNP	C	TCGA-KM-8476-01A-11D-2310-10	74422169	248343361	907260	7	40502											
ARHGAP15	55843	broad.mit.edu	37	2	143959765	143959765	+	Silent	SNP	A	A	G			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr2:143959765A>G	ENST00000295095.6	+	3	395	c.228A>G	c.(226-228)gaA>gaG	p.E76E	ARHGAP15_ENST00000409869.1_Silent_p.E76E	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	76					positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		CTCCATTGGAACAACTGGTGA	0.313																																																0													104	104	104					2																	143959765		2203	4300	6503	SO:0001819	synonymous_variant	55843			AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	21030	protein-coding gene	gene with protein product		610578				12650940, 11042152	Standard	NM_018460		Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000295095.6:c.228A>G	2.37:g.143959765A>G			Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Silent	SNP	ENST00000295095.6	37	CCDS2184.1																																																																																				0.313	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254793.2	NM_018460		G	143959765	A	G	143959765	2	3	722	1	0	0	0	0	0	0	0	1	866	40	2	3		3	ARHGAP15	2	143959765	Silent	SNP	A	TCGA-KM-8476-01A-11D-2310-10		143959765	99239608	8	40503											
OR6B3	150681	broad.mit.edu	37	2	240984793	240984793	+	Missense_Mutation	SNP	C	C	T			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr2:240984793C>T	ENST00000319423.4	-	1	696	c.697G>A	c.(697-699)Ggc>Agc	p.G233S	PRR21_ENST00000408934.1_5'Flank	NM_173351.1	NP_775486.1	Q8NGW1	OR6B3_HUMAN	olfactory receptor, family 6, subfamily B, member 3	233						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(10)|lung(4)|ovary(2)|prostate(1)	18		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;1.05e-29)|all cancers(36;3.52e-28)|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)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		CTCCAGCAGCCGGTGGCCGAG	0.577																																																0													46	53	51					2																	240984793		2098	4229	6327	SO:0001583	missense	150681				CCDS42837.1	2q37.3	2013-09-23	2002-11-13	2002-11-15	ENSG00000178586	ENSG00000178586		"GPCR / Class A : Olfactory receptors"	15042	protein-coding gene	gene with protein product			"olfactory receptor, family 6, subfamily B, member 3 pseudogene"	OR6B3P			Standard	NM_173351		Approved	OR6B3Q	uc010zoe.2	Q8NGW1	OTTHUMG00000152399	ENST00000319423.4:c.697G>A	2.37:g.240984793C>T	ENSP00000322435:p.Gly233Ser		Q6IFH3	Missense_Mutation	SNP	ENST00000319423.4	37	CCDS42837.1	.	.	.	.	.	.	.	.	.	.	c	10.51	1.369882	0.24771	.	.	ENSG00000178586	ENST00000319423	T	0.00293	8.26	4.09	1.35	0.21983	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47455	D	0.000223	T	0.00468	0.0015	M	0.65498	2.005	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.48115	-0.9063	10	0.72032	D	0.01	.	6.6505	0.22959	0.0:0.6118:0.0:0.3882	.	233	Q8NGW1	OR6B3_HUMAN	S	233	ENSP00000322435:G233S	ENSP00000322435:G233S	G	-	1	0	OR6B3	240633466	0.000000	0.05858	0.003000	0.11579	0.004000	0.04260	0.167000	0.16602	0.284000	0.22305	-0.931000	0.02705	GGC		0.577	OR6B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326078.1			T	240984793	C	T	240984793	3	4	722	1	0	0	0	0	1	0	0	0	11191	652	23	1	301	1	OR6B3	2	240984793	Missense_Mutation	SNP	C	TCGA-KM-8476-01A-11D-2310-10	97025028	240984793	2214580	9	40504											
SLC4A7	9497	mdanderson.org	37	3	27444780	27444780	+	Missense_Mutation	SNP	A	A	G			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr3:27444780A>G	ENST00000295736.5	-	15	2214	c.2144T>C	c.(2143-2145)cTt>cCt	p.L715P	SLC4A7_ENST00000440156.1_Missense_Mutation_p.L711P|SLC4A7_ENST00000428386.1_Missense_Mutation_p.L591P|SLC4A7_ENST00000437179.1_Missense_Mutation_p.L596P|SLC4A7_ENST00000445684.1_Missense_Mutation_p.L711P|SLC4A7_ENST00000388777.4_Missense_Mutation_p.L265P|SLC4A7_ENST00000455077.1_Missense_Mutation_p.L596P|SLC4A7_ENST00000446700.1_Missense_Mutation_p.L707P|SLC4A7_ENST00000454389.1_Missense_Mutation_p.L724P|SLC4A7_ENST00000435667.2_Missense_Mutation_p.L600P|SLC4A7_ENST00000425128.2_3'UTR	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	715					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)	ATAACACACAAGGCTGCTTGC	0.378																																																0													105	104	104					3																	27444780		2203	4300	6503	SO:0001583	missense	9497			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.2144T>C	3.37:g.27444780A>G	ENSP00000295736:p.Leu715Pro		A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP	ENST00000295736.5	37	CCDS33721.1	.	.	.	.	.	.	.	.	.	.	A	18.63	3.665776	0.67700	.	.	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	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74;-1.74;-1.74;-1.74;-1.74;-1.74;-1.74;-1.74	5.14	5.14	0.70334	Bicarbonate transporter, C-terminal (1);	0.000000	0.64402	D	0.000001	D	0.94049	0.8093	H	0.96889	3.9	0.80722	D	1	P;P;P;D;P;P;P;P;P	0.89917	0.576;0.606;0.576;1.0;0.576;0.552;0.552;0.576;0.606	P;P;P;D;P;P;P;P;P	0.97110	0.496;0.582;0.496;1.0;0.496;0.447;0.447;0.496;0.582	D	0.95937	0.8943	10	0.87932	D	0	.	14.9553	0.71107	1.0:0.0:0.0:0.0	.	711;596;707;711;724;265;591;715;596	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;F8W7E6;Q9Y6M7-2;Q9Y6M7;B2CI53	.;.;.;.;.;.;.;S4A7_HUMAN;.	P	266;715;591;724;711;596;707;596;711;600;265;611	ENSP00000411031:L266P;ENSP00000295736:L715P;ENSP00000416368:L591P;ENSP00000390394:L724P;ENSP00000414797:L711P;ENSP00000394252:L596P;ENSP00000406605:L707P;ENSP00000407382:L596P;ENSP00000406804:L711P;ENSP00000395336:L600P;ENSP00000373429:L265P;ENSP00000388703:L611P	ENSP00000295736:L715P	L	-	2	0	SLC4A7	27419784	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.339000	0.96797	1.945000	0.56424	0.459000	0.35465	CTT		0.378	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615		G	27444780	A	G	27444780	3	3	722	1	0	0	0	0	1	0	0	0	14664	72	3	3	1544	3	SLC4A7	3	27444780	Missense_Mutation	SNP	A	TCGA-KM-8476-01A-11D-2310-10		27444780	170577650	10	40505											
LAMB2	3913	broad.mit.edu;mdanderson.org;bcgsc.ca	37	3	49162828	49162828	+	Missense_Mutation	SNP	G	G	A	rs563405094		TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr3:49162828G>A	ENST00000418109.1	-	20	2742	c.2578C>T	c.(2578-2580)Cgc>Tgc	p.R860C	LAMB2_ENST00000305544.4_Missense_Mutation_p.R860C|LAMB2_ENST00000464891.1_5'UTR	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	860	Laminin EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CGGTCACAGCGAAGCCCAAAG	0.607													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16151	0.0		0.0	False		,,,				2504	0.0															0													62	59	60					3																	49162828		2203	4300	6503	SO:0001583	missense	3913				CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"Laminins"	6487	protein-coding gene	gene with protein product	"laminin S"	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.2578C>T	3.37:g.49162828G>A	ENSP00000388325:p.Arg860Cys		Q16321	Missense_Mutation	SNP	ENST00000418109.1	37	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.170780	0.78452	.	.	ENSG00000172037	ENST00000418109;ENST00000305544	T;T	0.63417	-0.04;-0.04	6.08	6.08	0.98989	EGF-like, laminin (4);EGF-like region, conserved site (1);	0.166713	0.51477	D	0.000090	D	0.83492	0.5266	M	0.93106	3.38	0.58432	D	0.999999	D	0.89917	1.0	D	0.73380	0.98	D	0.86585	0.1856	10	0.87932	D	0	.	15.3887	0.74726	0.0:0.0:0.8608:0.1392	.	860	P55268	LAMB2_HUMAN	C	860	ENSP00000388325:R860C;ENSP00000307156:R860C	ENSP00000307156:R860C	R	-	1	0	LAMB2	49137832	0.738000	0.28186	1.000000	0.80357	0.991000	0.79684	3.900000	0.56295	2.894000	0.99253	0.655000	0.94253	CGC		0.607	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292		A	49162828	G	A	49162828	3	1	722	1	0	0	0	0	1	0	0	0	8613	1058	37	1	2874	1	LAMB2	3	49162828	Missense_Mutation	SNP	G	TCGA-KM-8476-01A-11D-2310-10	21718048	49162828	148859602	11	40506											
CYB561D2	11068	broad.mit.edu;bcgsc.ca	37	3	50391044	50391044	+	Missense_Mutation	SNP	T	T	C			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr3:50391044T>C	ENST00000418577.1	+	3	1114	c.538T>C	c.(538-540)Tca>Cca	p.S180P	XXcos-LUCA11.5_ENST00000606589.1_Intron|CYB561D2_ENST00000425346.1_Missense_Mutation_p.S180P|CYB561D2_ENST00000232508.5_Missense_Mutation_p.S180P|NPRL2_ENST00000232501.3_5'Flank|CYB561D2_ENST00000424512.1_Missense_Mutation_p.S180P			O14569	C56D2_HUMAN	cytochrome b561 family, member D2	180	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.				oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			endometrium(1)|lung(1)|urinary_tract(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GGGCATGTGCTCACTCTGGTT	0.582																																																0													143	135	138					3																	50391044		2203	4300	6503	SO:0001583	missense	11068			AF040704	CCDS2827.1	3p21.3	2013-03-14	2013-03-14		ENSG00000114395	ENSG00000114395		"Cytochrome b genes"	30253	protein-coding gene	gene with protein product	"putative tumor suppressor 101F6"	607068	"cytochrome b-561 domain containing 2"			9122200, 11085536, 23249217	Standard	XM_005264832		Approved	101F6, TSP10	uc003dal.3	O14569	OTTHUMG00000156813	ENST00000418577.1:c.538T>C	3.37:g.50391044T>C	ENSP00000391209:p.Ser180Pro		A8K552	Missense_Mutation	SNP	ENST00000418577.1	37	CCDS2827.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.691986	0.88735	.	.	ENSG00000114395	ENST00000425346;ENST00000424512;ENST00000232508;ENST00000418577	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.68	5.68	0.88126	Cytochrome b561, eukaryote (1);Cytochrome b561/ferric reductase transmembrane (1);	0.057497	0.64402	D	0.000001	T	0.72301	0.3443	M	0.85041	2.73	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.77117	-0.2706	10	0.66056	D	0.02	.	15.6089	0.76699	0.0:0.0:0.0:1.0	.	180	O14569	C56D2_HUMAN	P	180	ENSP00000400454:S180P;ENSP00000410663:S180P;ENSP00000232508:S180P;ENSP00000391209:S180P	ENSP00000232508:S180P	S	+	1	0	CYB561D2	50366048	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.179000	0.69175	0.459000	0.35465	TCA		0.582	CYB561D2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345973.1	NM_007022		C	50391044	T	C	50391044	3	2	722	1	0	0	0	0	1	0	0	0	4123	1551	54	3	548	3	CYB561D2	3	50391044	Missense_Mutation	SNP	T	TCGA-KM-8476-01A-11D-2310-10	1228216	50391044	147631386	12	40507											
DNAH1	25981	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	3	52365211	52365211	+	Missense_Mutation	SNP	G	G	A			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr3:52365211G>A	ENST00000420323.2	+	7	1180	c.919G>A	c.(919-921)Gtc>Atc	p.V307I		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	307	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)		CGAGGTCGGCGTCCTGGACTA	0.577																																																0													56	59	58					3																	52365211		2039	4188	6227	SO:0001583	missense	25981			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.919G>A	3.37:g.52365211G>A	ENSP00000401514:p.Val307Ile		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.883725	0.51908	.	.	ENSG00000114841	ENST00000420323	T	0.25912	1.77	5.38	5.38	0.77491	.	0.000000	0.46145	D	0.000309	T	0.49355	0.1552	M	0.77820	2.39	0.50467	D	0.999876	P;D	0.64830	0.939;0.994	B;P	0.57009	0.292;0.811	T	0.51803	-0.8659	10	0.54805	T	0.06	.	19.1396	0.93443	0.0:0.0:1.0:0.0	.	307;307	C9JXH6;Q9P2D7-3	.;.	I	307	ENSP00000401514:V307I	ENSP00000401514:V307I	V	+	1	0	DNAH1	52340251	1.000000	0.71417	0.945000	0.38365	0.215000	0.24574	6.830000	0.75319	2.521000	0.84997	0.462000	0.41574	GTC		0.577	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		A	52365211	G	A	52365211	3	1	722	1	0	0	0	0	1	0	0	0	4599	1145	40	1	941	1	DNAH1	3	52365211	Missense_Mutation	SNP	G	TCGA-KM-8476-01A-11D-2310-10	1974167	52365211	145657219	13	40508											
DNAH12	201625	broad.mit.edu	37	3	57438684	57438684	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr3:57438684delA	ENST00000351747.2	-	25	3783	c.3603delT	c.(3601-3603)aatfs	p.N1201fs		NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	1201	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						GGGCATTCTCATTTTCCCAAT	0.368																																																0													83	83	83					3																	57438684		692	1591	2283	SO:0001589	frameshift_variant	201625			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.3603delT	3.37:g.57438684delA	ENSP00000295937:p.Asn1201fs		A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Frame_Shift_Del	DEL	ENST00000351747.2	37																																																																																					0.368	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_178504		-	57438684	A	-	57438684	7	5	722	1	0	1	0	1	0	0	0	0	4602	214	8	0	5815	0	DNAH12	3	57438684	Frame_Shift_Del	DEL	A	TCGA-KM-8476-01A-11D-2310-10	5073473	57438684	140583746	14	40509											
DCBLD2	131566	mdanderson.org	37	3	98620083	98620083	+	Missense_Mutation	SNP	G	G	C	rs190637453	byFrequency	TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr3:98620083G>C	ENST00000326840.6	-	1	450	c.88C>G	c.(88-90)Ctc>Gtc	p.L30V	DCBLD2_ENST00000469648.1_5'Flank|CTD-2021J15.1_ENST00000474798.1_RNA|DCBLD2_ENST00000326857.9_Missense_Mutation_p.L30V	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	30					cell adhesion (GO:0007155)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cell growth (GO:0030308)|wound healing (GO:0042060)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						gagagggggagcgcggcccag	0.731													G|||	24	0.00479233	0.0	0.0101	5008	,	,		10431	0.0		0.0139	False		,,,				2504	0.0031															0								G	VAL/LEU	8,3348		0,8,1670	8	9	9		88	0.5	1	3		9	71,7025		0,71,3477	no	missense	DCBLD2	NM_080927.3	32	0,79,5147	CC,CG,GG		1.0006,0.2384,0.7558	possibly-damaging	30/776	98620083	79,10373	1678	3548	5226	SO:0001583	missense	131566				CCDS46878.1	3q12.2	2006-04-12			ENSG00000057019	ENSG00000057019			24627	protein-coding gene	gene with protein product		608698				11447234	Standard	NM_080927		Approved	CLCP1, ESDN	uc003dtd.3	Q96PD2	OTTHUMG00000151985	ENST00000326840.6:c.88C>G	3.37:g.98620083G>C	ENSP00000321573:p.Leu30Val		B7WNL1|D3DN41|Q8N6M4|Q8TDX2	Missense_Mutation	SNP	ENST00000326840.6	37	CCDS46878.1	18	0.008241758241758242	0	0.0	6	0.016574585635359115	0	0.0	12	0.0158311345646438	G	10.06	1.247539	0.22880	0.002384	0.010006	ENSG00000057019	ENST00000326840;ENST00000326857	D;D	0.91124	-2.78;-2.79	2.37	0.476	0.16779	.	1.549460	0.04531	N	0.386306	T	0.70413	0.3221	N	0.14661	0.345	0.22280	N	0.999231	B;B	0.17465	0.022;0.013	B;B	0.12837	0.008;0.003	T	0.65459	-0.6163	10	0.44086	T	0.13	-0.8532	4.8872	0.13708	0.3129:0.0:0.6871:0.0	.	30;30	Q96PD2-2;Q96PD2	.;DCBD2_HUMAN	V	30	ENSP00000321573:L30V;ENSP00000321646:L30V	ENSP00000321573:L30V	L	-	1	0	DCBLD2	100102773	0.959000	0.32827	0.967000	0.41034	0.231000	0.25187	0.336000	0.19823	0.128000	0.18479	0.121000	0.15741	CTC		0.731	DCBLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324675.2	NM_080927		C	98620083	G	C	98620083	3	2	722	1	0	0	0	0	1	0	0	0	4283	971	34	4	2303	4	DCBLD2	3	98620083	Missense_Mutation	SNP	G	TCGA-KM-8476-01A-11D-2310-10	41181399	98620083	99402347	15	40510											
ABTB1	80325	hgsc.bcm.edu	37	3	127396057	127396057	+	Silent	SNP	C	C	T			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr3:127396057C>T	ENST00000232744.8	+	8	776	c.690C>T	c.(688-690)ccC>ccT	p.P230P	ABTB1_ENST00000393363.3_Silent_p.P88P|ABTB1_ENST00000468137.1_Silent_p.P88P|ABTB1_ENST00000453791.2_Silent_p.P88P					ankyrin repeat and BTB (POZ) domain containing 1											central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						CCATCGAGCCCCCACCTGCAG	0.682																																																0													32	29	30					3																	127396057		2200	4298	6498	SO:0001819	synonymous_variant	80325			AB053324	CCDS3045.1, CCDS46901.1	3q21	2013-01-10			ENSG00000114626	ENSG00000114626		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	18275	protein-coding gene	gene with protein product		608308				10891360, 11494141	Standard	NM_172027		Approved	BPOZ, EF1ABP, Btb3, BTBD21	uc003ejt.3	Q969K4	OTTHUMG00000159636	ENST00000232744.8:c.690C>T	3.37:g.127396057C>T				Silent	SNP	ENST00000232744.8	37	CCDS3045.1																																																																																				0.682	ABTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356595.1	NM_172027		T	127396057	C	T	127396057	2	4	722	1	0	0	0	0	0	0	0	1	102	610	22	2		2	ABTB1	3	127396057	Silent	SNP	C	TCGA-KM-8476-01A-11D-2310-10	28775974	127396057	70626373	16	40511											
TRPC1	7220	broad.mit.edu	37	3	142525034	142525034	+	Missense_Mutation	SNP	G	G	T			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr3:142525034G>T	ENST00000476941.1	+	13	2825	c.2339G>T	c.(2338-2340)gGc>gTc	p.G780V	TRPC1_ENST00000273482.6_Missense_Mutation_p.G746V	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	780					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						GATTTACTTGGCTTTCGGACT	0.338																																																0													70	70	70					3																	142525034		2203	4300	6503	SO:0001583	missense	7220			X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"Voltage-gated ion channels / Transient receptor potential cation channels"	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.2339G>T	3.37:g.142525034G>T	ENSP00000419313:p.Gly780Val		Q14CE4	Missense_Mutation	SNP	ENST00000476941.1	37	CCDS58856.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.339985	0.81911	.	.	ENSG00000144935	ENST00000476941;ENST00000273482	T;T	0.79247	-0.93;-1.25	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.87341	0.6153	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;0.981	D;P	0.83275	0.996;0.899	D	0.87462	0.2408	10	0.62326	D	0.03	-19.8713	19.5907	0.95509	0.0:0.0:1.0:0.0	.	780;746	P48995;P48995-2	TRPC1_HUMAN;.	V	780;746	ENSP00000419313:G780V;ENSP00000273482:G746V	ENSP00000273482:G746V	G	+	2	0	TRPC1	144007724	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.455000	0.97625	2.642000	0.89623	0.563000	0.77884	GGC		0.338	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354520.1	NM_003304		T	142525034	G	T	142525034	3	4	722	1	0	0	0	0	1	0	0	0	16583	1203	42	4	2283	4	TRPC1	3	142525034	Missense_Mutation	SNP	G	TCGA-KM-8476-01A-11D-2310-10	15128977	142525034	55497396	17	40512											
TP63	8626	ucsc.edu;mdanderson.org;bcgsc.ca	37	3	189455532	189455532	+	Missense_Mutation	SNP	C	C	A			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr3:189455532C>A	ENST00000264731.3	+	2	155	c.66C>A	c.(64-66)ttC>ttA	p.F22L	TP63_ENST00000440651.2_Missense_Mutation_p.F22L|TP63_ENST00000392460.3_Missense_Mutation_p.F22L|TP63_ENST00000418709.2_Missense_Mutation_p.F22L|TP63_ENST00000320472.5_Missense_Mutation_p.F22L|TP63_ENST00000382063.4_Missense_Mutation_p.F22L	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	22	Transcription activation.				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)		TTTTAAGTTTCGTAGAAACCC	0.348										HNSCC(45;0.13)																																						0													70	74	73					3																	189455532		2203	4300	6503	SO:0001583	missense	8626			AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"tumor protein p73-like", "tumor protein p53-like", "tumor protein p53-competing protein"	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.66C>A	3.37:g.189455532C>A	ENSP00000264731:p.Phe22Leu		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	CCDS3293.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.133012	0.56828	.	.	ENSG00000073282	ENST00000264731;ENST00000418709;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000382063	D;D;D;D;D;D	0.99557	-5.8;-6.11;-6.04;-6.03;-5.8;-6.16	5.67	-5.27	0.02763	.	0.063913	0.64402	D	0.000005	D	0.96423	0.8833	N	0.08118	0	0.80722	D	1	B;B;B;B	0.21147	0.052;0.018;0.031;0.018	B;B;B;B	0.16722	0.016;0.016;0.005;0.016	T	0.82851	-0.0253	9	.	.	.	-5.9382	16.2055	0.82126	0.0:0.1538:0.0:0.8462	.	22;22;22;22	Q9H3D4-7;Q9H3D4-3;Q9H3D4;Q9H3D4-5	.;.;P63_HUMAN;.	L	22	ENSP00000264731:F22L;ENSP00000407144:F22L;ENSP00000317510:F22L;ENSP00000376253:F22L;ENSP00000394337:F22L;ENSP00000371495:F22L	.	F	+	3	2	TP63	190938226	0.013000	0.17824	0.793000	0.32043	0.991000	0.79684	-1.643000	0.02004	-1.002000	0.03429	0.650000	0.86243	TTC		0.348	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722		A	189455532	C	A	189455532	3	1	722	1	0	0	0	0	1	0	0	0	16397	883	31	4	72	4	TP63	3	189455532	Missense_Mutation	SNP	C	TCGA-KM-8476-01A-11D-2310-10	46930498	189455532	8566898	18	40513											
GK2	2712	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	4	80327734	80327734	+	Missense_Mutation	SNP	C	C	T			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr4:80327734C>T	ENST00000358842.3	-	1	1638	c.1621G>A	c.(1621-1623)Gta>Ata	p.V541I		NM_033214.2	NP_149991.2	Q01415	GALK2_HUMAN	glycerol kinase 2	44					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						ATTAGCATTACCATGCTACTC	0.398																																																0													84	82	83					4																	80327734		2203	4300	6503	SO:0001583	missense	2712			BC029820	CCDS3585.1	4q13	2008-02-05	2002-10-03	2002-10-04	ENSG00000196475	ENSG00000196475		"Glycerol kinases"	4291	protein-coding gene	gene with protein product		600148	"glycerol kinase pseudogene 2"	GKP2		7987308	Standard	NM_033214		Approved	GKTA	uc003hlu.3	Q14410	OTTHUMG00000130199	ENST00000358842.3:c.1621G>A	4.37:g.80327734C>T	ENSP00000351706:p.Val541Ile		Q7Z4Q4	Missense_Mutation	SNP	ENST00000358842.3	37	CCDS3585.1	.	.	.	.	.	.	.	.	.	.	C	2.028	-0.423139	0.04734	.	.	ENSG00000196475	ENST00000358842	T	0.14022	2.54	4.11	2.9	0.33743	.	0.620022	0.16540	N	0.210016	T	0.06188	0.0160	N	0.14661	0.345	0.22330	N	0.999192	B	0.02656	0.0	B	0.04013	0.001	T	0.41466	-0.9507	10	0.11485	T	0.65	-11.0196	4.7749	0.13175	0.0:0.3368:0.0:0.6632	.	541	Q14410	GLPK2_HUMAN	I	541	ENSP00000351706:V541I	ENSP00000351706:V541I	V	-	1	0	GK2	80546758	0.627000	0.27129	0.998000	0.56505	0.950000	0.60333	-0.533000	0.06157	0.881000	0.35993	0.585000	0.79938	GTA		0.398	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252517.2	NM_033214		T	80327734	C	T	80327734	3	4	722	1	0	0	0	0	1	0	0	0	6423	507	18	2	44	2	GK2	4	80327734	Missense_Mutation	SNP	C	TCGA-KM-8476-01A-11D-2310-10		80327734	110826542	19	40514											
FNIP2	57600	broad.mit.edu;mdanderson.org	37	4	159780275	159780275	+	Silent	SNP	G	G	A			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr4:159780275G>A	ENST00000264433.6	+	9	999	c.924G>A	c.(922-924)agG>agA	p.R308R	FNIP2_ENST00000379346.3_Silent_p.R331R	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	308					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		TGGTTAGGAGGAAGAAAATTG	0.398																																																0													79	78	78					4																	159780275		1845	4097	5942	SO:0001819	synonymous_variant	57600			AB040883	CCDS47155.1	4q32.1	2012-10-31			ENSG00000052795	ENSG00000052795			29280	protein-coding gene	gene with protein product	"O6-methylguanine-induced apoptosis 1"	612768				18403135	Standard	NM_020840		Approved	KIAA1450, FNIPL, MAPO1	uc003iqe.4	Q9P278	OTTHUMG00000161983	ENST00000264433.6:c.924G>A	4.37:g.159780275G>A			Q05DC3|Q96I31|Q9H994	Silent	SNP	ENST00000264433.6	37	CCDS47155.1																																																																																				0.398	FNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366602.1	NM_020840		A	159780275	G	A	159780275	2	1	722	1	0	0	0	0	0	0	0	1	5978	1165	41	2		2	FNIP2	4	159780275	Silent	SNP	G	TCGA-KM-8476-01A-11D-2310-10	79452541	159780275	31374001	20	40515											
FRG1	2483	mdanderson.org	37	4	190883004	190883004	+	Missense_Mutation	SNP	C	C	A			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr4:190883004C>A	ENST00000226798.4	+	8	879	c.657C>A	c.(655-657)caC>caA	p.H219Q		NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	219					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)		TCCAAGACCACAAACTTAAAA	0.289																																																0													66	82	77					4																	190883004		2129	4195	6324	SO:0001583	missense	2483			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.657C>A	4.37:g.190883004C>A	ENSP00000226798:p.His219Gln		A8K775	Missense_Mutation	SNP	ENST00000226798.4	37	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	9.796	1.179300	0.21787	.	.	ENSG00000109536	ENST00000226798;ENST00000524583	T	0.28255	1.62	3.89	2.08	0.27032	.	0.353012	0.32884	N	0.005540	T	0.22781	0.0550	L	0.50333	1.59	0.27511	N	0.951693	B	0.25904	0.137	B	0.22880	0.042	T	0.22034	-1.0228	10	0.15952	T	0.53	-5.3563	8.561	0.33511	0.0:0.8087:0.0:0.1913	.	219	Q14331	FRG1_HUMAN	Q	219;91	ENSP00000226798:H219Q	ENSP00000226798:H219Q	H	+	3	2	FRG1	191119998	0.733000	0.28132	1.000000	0.80357	0.952000	0.60782	-0.200000	0.09478	0.227000	0.20999	0.479000	0.44913	CAC		0.289	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		A	190883004	C	A	190883004	3	1	722	1	0	0	0	0	1	0	0	0	6048	477	17	4	687	4	FRG1	4	190883004	Missense_Mutation	SNP	C	TCGA-KM-8476-01A-11D-2310-10	31102729	190883004	271272	21	40516											
PRDM9	56979	broad.mit.edu;mdanderson.org	37	5	23527628	23527628	+	Missense_Mutation	SNP	C	C	T			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr5:23527628C>T	ENST00000296682.3	+	11	2613	c.2431C>T	c.(2431-2433)Cgg>Tgg	p.R811W		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	811					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						GGAGTGTGGGCGGGGCTTTAG	0.572										HNSCC(3;0.000094)																																						0													40	50	46					5																	23527628		2149	4270	6419	SO:0001583	missense	56979			AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"-", "Zinc fingers, C2H2-type"	13994	protein-coding gene	gene with protein product	"PR-domain containing protein 9"	609760	"minisatellite binding protein 3, 115kDa", "minisatellite binding protein 3 (115kD)"	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.2431C>T	5.37:g.23527628C>T	ENSP00000296682:p.Arg811Trp		B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	C	3.066	-0.192235	0.06259	.	.	ENSG00000164256	ENST00000296682	T	0.19806	2.12	3.02	1.12	0.20585	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20373	0.0490	M	0.72576	2.205	0.20975	N	0.999817	B	0.22800	0.075	B	0.18561	0.022	T	0.26710	-1.0095	9	0.46703	T	0.11	.	3.8662	0.09018	0.4206:0.4551:0.0:0.1244	.	811	Q9NQV7	PRDM9_HUMAN	W	811	ENSP00000296682:R811W	ENSP00000296682:R811W	R	+	1	2	PRDM9	23563385	0.002000	0.14202	0.775000	0.31657	0.007000	0.05969	1.748000	0.38308	0.307000	0.22880	-0.575000	0.04146	CGG		0.572	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		T	23527628	C	T	23527628	3	4	722	1	0	0	0	0	1	0	0	0	12468	759	27	1	2469	1	PRDM9	5	23527628	Missense_Mutation	SNP	C	TCGA-KM-8476-01A-11D-2310-10		23527628	157387632	22	40517											
PCDHA8	56140	broad.mit.edu	37	5	140223107	140223107	+	Missense_Mutation	SNP	C	C	T			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr5:140223107C>T	ENST00000531613.1	+	1	2201	c.2201C>T	c.(2200-2202)gCg>gTg	p.A734V	PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.A734V|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	734					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)			GGGTGCCGGGCGGGCAAGCCC	0.662																																																0													49	49	49					5																	140223107		2196	4266	6462	SO:0001583	missense	56140			AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"Cadherins / Protocadherins : Clustered"	8674	other	complex locus constituent	"KIAA0345-like 6"	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.2201C>T	5.37:g.140223107C>T	ENSP00000434655:p.Ala734Val		B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	C	5.825	0.336386	0.11013	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.11712	2.75;2.75	3.06	3.06	0.35304	.	0.235442	0.21287	U	0.077055	T	0.08223	0.0205	N	0.22421	0.69	0.23346	N	0.997868	B;B	0.13145	0.002;0.007	B;B	0.08055	0.001;0.003	T	0.25641	-1.0126	10	0.42905	T	0.14	.	13.3249	0.60454	0.0:1.0:0.0:0.0	.	734;734	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	V	734	ENSP00000434655:A734V;ENSP00000367363:A734V	ENSP00000367363:A734V	A	+	2	0	PCDHA8	140203291	0.355000	0.24921	0.151000	0.22473	0.037000	0.13140	2.945000	0.49043	1.692000	0.51112	0.460000	0.39030	GCG		0.662	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		T	140223107	C	T	140223107	3	4	722	1	0	0	0	0	1	0	0	0	11532	768	27	1	2203	1	PCDHA8	5	140223107	Missense_Mutation	SNP	C	TCGA-KM-8476-01A-11D-2310-10	116695479	140223107	40692153	23	40518											
SLC25A2	83884	broad.mit.edu	37	5	140683388	140683388	+	Silent	SNP	C	C	T			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr5:140683388C>T	ENST00000239451.4	-	1	224	c.45G>A	c.(43-45)gcG>gcA	p.A15A		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	15					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|urea cycle (GO:0000050)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	CTGCGGCCCCCGCTGTGAGGT	0.607																																																0													45	47	47					5																	140683388		2203	4300	6503	SO:0001819	synonymous_variant	83884			AF332005	CCDS4258.1	5q31.3	2013-05-22			ENSG00000120329	ENSG00000120329		"Solute carriers"	22921	protein-coding gene	gene with protein product		608157				11004451	Standard	NM_031947		Approved	ORNT2	uc003ljf.3	Q9BXI2	OTTHUMG00000129604	ENST00000239451.4:c.45G>A	5.37:g.140683388C>T			Q496C1|Q6XUI0|Q8NFZ2	Silent	SNP	ENST00000239451.4	37	CCDS4258.1																																																																																				0.607	SLC25A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251799.2	NM_031947		T	140683388	C	T	140683388	2	4	722	1	0	0	0	0	0	0	0	1	14488	639	23	1		1	SLC25A2	5	140683388	Silent	SNP	C	TCGA-KM-8476-01A-11D-2310-10	460281	140683388	40231872	24	40519											
PCDH12	51294	broad.mit.edu;mdanderson.org	37	5	141335867	141335867	+	Missense_Mutation	SNP	A	A	G			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr5:141335867A>G	ENST00000231484.3	-	1	2760	c.1550T>C	c.(1549-1551)gTc>gCc	p.V517A	AC005740.6_ENST00000607378.1_RNA|PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	517	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGAGCAGTGACCTCTCCTGT	0.517																																																0													90	87	88					5																	141335867		2203	4300	6503	SO:0001583	missense	51294			AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"Cadherins / Protocadherins : Non-clustered"	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.1550T>C	5.37:g.141335867A>G	ENSP00000231484:p.Val517Ala		Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Missense_Mutation	SNP	ENST00000231484.3	37	CCDS4269.1	.	.	.	.	.	.	.	.	.	.	A	19.72	3.880823	0.72294	.	.	ENSG00000113555	ENST00000231484	T	0.67171	-0.25	5.16	5.16	0.70880	Cadherin (5);Cadherin-like (1);	0.194189	0.41823	D	0.000817	T	0.65995	0.2745	M	0.79123	2.44	0.45690	D	0.998607	P	0.43938	0.822	B	0.37550	0.253	T	0.73375	-0.4002	10	0.72032	D	0.01	.	12.9983	0.58660	1.0:0.0:0.0:0.0	.	517	Q9NPG4	PCD12_HUMAN	A	517	ENSP00000231484:V517A	ENSP00000231484:V517A	V	-	2	0	PCDH12	141316051	0.984000	0.35163	1.000000	0.80357	0.984000	0.73092	9.139000	0.94554	2.169000	0.68431	0.533000	0.62120	GTC		0.517	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		G	141335867	A	G	141335867	3	3	722	1	0	0	0	0	1	0	0	0	11512	275	10	3	2020	3	PCDH12	5	141335867	Missense_Mutation	SNP	A	TCGA-KM-8476-01A-11D-2310-10	652479	141335867	39579393	25	40520											
GRIA1	2890	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	5	153065877	153065877	+	Silent	SNP	C	C	T	rs140876127		TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr5:153065877C>T	ENST00000285900.5	+	8	1465	c.1122C>T	c.(1120-1122)gaC>gaT	p.D374D	GRIA1_ENST00000518142.1_Silent_p.D294D|GRIA1_ENST00000340592.5_Silent_p.D374D|GRIA1_ENST00000521843.2_Silent_p.D305D|GRIA1_ENST00000448073.4_Silent_p.D384D|GRIA1_ENST00000518783.1_Silent_p.D384D	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	374					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)	p.D374D(2)		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)	TGAAACATGACGGCATCCGAA	0.502													C|||	1	0.000199681	0.0	0.0	5008	,	,		17294	0.001		0.0	False		,,,				2504	0.0															2	Substitution - coding silent(2)	large_intestine(2)						C	,	0,4406		0,0,2203	116	104	108		1122,1122	-10.5	0.8	5	dbSNP_134	108	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	GRIA1	NM_000827.3,NM_001114183.1	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	374/907,374/907	153065877	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2890				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.1122C>T	5.37:g.153065877C>T			B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Silent	SNP	ENST00000285900.5	37	CCDS4322.1																																																																																				0.502	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			T	153065877	C	T	153065877	2	4	722	1	0	0	0	0	0	0	0	1	6769	535	19	1		1	GRIA1	5	153065877	Silent	SNP	C	TCGA-KM-8476-01A-11D-2310-10	11730010	153065877	27849383	26	40521											
FLT4	2324	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	5	180053237	180053237	+	Missense_Mutation	SNP	G	G	A	rs372947534		TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr5:180053237G>A	ENST00000261937.6	-	9	1210	c.1132C>T	c.(1132-1134)Cgc>Tgc	p.R378C	FLT4_ENST00000393347.3_Missense_Mutation_p.R378C|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Missense_Mutation_p.R378C	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	378	Ig-like C2-type 4.		R -> C (in a renal clear cell carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		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)	p.R378C(1)		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)	GGACTGTGGCGCCCGGACAGT	0.647																																					Colon(97;1075 1466 27033 27547 35871)											1	Substitution - Missense(1)	kidney(1)						G	CYS/ARG,CYS/ARG	0,4406		0,0,2203	94	99	98		1132,1132	4.5	1	5		98	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	FLT4	NM_002020.4,NM_182925.4	180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	378/1299,378/1364	180053237	1,13005	2203	4300	6503	SO:0001583	missense	2324			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.1132C>T	5.37:g.180053237G>A	ENSP00000261937:p.Arg378Cys		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.251534	0.59212	0.0	1.16E-4	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000376868	T;T;T	0.13307	2.6;2.6;2.6	4.5	4.5	0.54988	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.36936	0.0985	M	0.84683	2.71	0.46874	D	0.999231	D;D;D	0.89917	1.0;0.997;0.998	D;P;P	0.71184	0.972;0.901;0.901	T	0.22173	-1.0224	9	0.72032	D	0.01	.	8.8586	0.35242	0.1038:0.0:0.8962:0.0	.	378;378;378	P35916-3;E9PD35;P35916	.;.;VGFR3_HUMAN	C	378;378;378;188	ENSP00000261937:R378C;ENSP00000377016:R378C;ENSP00000426057:R378C	ENSP00000261937:R378C	R	-	1	0	FLT4	179985843	0.049000	0.20398	0.995000	0.50966	0.593000	0.36681	1.754000	0.38369	2.236000	0.73375	0.561000	0.74099	CGC		0.647	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			A	180053237	G	A	180053237	3	1	722	1	0	0	0	0	1	0	0	0	5946	1087	38	1	3055	1	FLT4	5	180053237	Missense_Mutation	SNP	G	TCGA-KM-8476-01A-11D-2310-10	26987360	180053237	862023	27	40522											
HIVEP1	3096	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	6	12162043	12162043	+	Missense_Mutation	SNP	G	G	A			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr6:12162043G>A	ENST00000379388.2	+	8	7191	c.6859G>A	c.(6859-6861)Gac>Aac	p.D2287N	HIVEP1_ENST00000541134.1_Missense_Mutation_p.D152N	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2287					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)				AGATGAAAACGACACAATTCC	0.512																																																0													98	100	99					6																	12162043		2095	4234	6329	SO:0001583	missense	3096			J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"Zinc fingers, C2H2-type"	4920	protein-coding gene	gene with protein product		194540	"human immunodeficiency virus type I enhancer-binding protein 1", "zinc finger protein 40"	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.6859G>A	6.37:g.12162043G>A	ENSP00000368698:p.Asp2287Asn		B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	G	11.90	1.777903	0.31502	.	.	ENSG00000095951	ENST00000379388;ENST00000442081;ENST00000541134;ENST00000542327	T;T	0.31769	3.0;1.48	5.77	2.92	0.33932	.	1.573320	0.04254	N	0.339229	T	0.08447	0.0210	N	0.22421	0.69	0.09310	N	1	B	0.25850	0.136	B	0.18871	0.023	T	0.31696	-0.9934	10	0.29301	T	0.29	-0.2298	10.3306	0.43820	0.0695:0.3587:0.5718:0.0	.	2287	P15822	ZEP1_HUMAN	N	2287;214;152;269	ENSP00000368698:D2287N;ENSP00000445617:D152N	ENSP00000368698:D2287N	D	+	1	0	HIVEP1	12270029	0.002000	0.14202	0.001000	0.08648	0.015000	0.08874	1.237000	0.32695	0.310000	0.22990	0.655000	0.94253	GAC		0.512	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		A	12162043	G	A	12162043	3	1	722	1	0	0	0	0	1	0	0	0	7188	1058	37	1	6885	1	HIVEP1	6	12162043	Missense_Mutation	SNP	G	TCGA-KM-8476-01A-11D-2310-10		12162043	158953024	28	40523											
MUC21	394263	mdanderson.org	37	6	30955158	30955158	+	Silent	SNP	C	C	T			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr6:30955158C>T	ENST00000376296.3	+	2	1447	c.1206C>T	c.(1204-1206)gcC>gcT	p.A402A	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	402	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						CCAGTGGGGCCAGCACAGCCA	0.627																																																0													140	138	138					6																	30955158		2203	4300	6503	SO:0001819	synonymous_variant	394263			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.1206C>T	6.37:g.30955158C>T			B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Silent	SNP	ENST00000376296.3	37	CCDS34388.1																																																																																				0.627	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		T	30955158	C	T	30955158	2	4	722	1	0	0	0	0	0	0	0	1	9979	581	21	2		2	MUC21	6	30955158	Silent	SNP	C	TCGA-KM-8476-01A-11D-2310-10	18793115	30955158	140159909	29	40524											
SYNGAP1	8831	ucsc.edu	37	6	33400504	33400504	+	Missense_Mutation	SNP	A	A	G			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr6:33400504A>G	ENST00000418600.2	+	5	531	c.430A>G	c.(430-432)Acg>Gcg	p.T144A	SYNGAP1_ENST00000428982.2_Missense_Mutation_p.T85A|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.T144A|SYNGAP1_ENST00000496374.1_3'UTR	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	144					dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CATCAAACGAACGAAGTCACA	0.582																																																0													75	64	67					6																	33400504		2203	4300	6503	SO:0001583	missense	8831			AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"synaptic Ras GTPase activating protein 1 homolog (rat)"			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.430A>G	6.37:g.33400504A>G	ENSP00000403636:p.Thr144Ala		A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Missense_Mutation	SNP	ENST00000418600.2	37	CCDS34434.2	.	.	.	.	.	.	.	.	.	.	A	12.86	2.065748	0.36470	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372;ENST00000428982	T;T;T	0.19938	2.11;2.21;2.3	4.36	4.36	0.52297	Pleckstrin homology domain (1);	0.117466	0.64402	N	0.000019	T	0.07324	0.0185	N	0.26130	0.795	0.44976	D	0.997994	B;B;B	0.14438	0.0;0.0;0.01	B;B;B	0.15870	0.001;0.001;0.014	T	0.06899	-1.0801	10	0.51188	T	0.08	.	11.5483	0.50706	1.0:0.0:0.0:0.0	.	144;144;144	Q96PV0;Q96PV0-4;B7ZCA0	SYGP1_HUMAN;.;.	A	144;144;144;85	ENSP00000293748:T144A;ENSP00000403636:T144A;ENSP00000412475:T85A	ENSP00000293748:T144A	T	+	1	0	SYNGAP1	33508482	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	5.143000	0.64826	1.840000	0.53500	0.383000	0.25322	ACG		0.582	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		G	33400504	A	G	33400504	3	3	722	1	0	0	0	0	1	0	0	0	15452	43	2	3	448	3	SYNGAP1	6	33400504	Missense_Mutation	SNP	A	TCGA-KM-8476-01A-11D-2310-10	2445346	33400504	137714563	30	40525											
GRM1	2911	broad.mit.edu;ucsc.edu	37	6	146720023	146720023	+	Silent	SNP	G	G	T			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr6:146720023G>T	ENST00000282753.1	+	7	2083	c.1848G>T	c.(1846-1848)ctG>ctT	p.L616L	GRM1_ENST00000492807.2_Silent_p.L616L|GRM1_ENST00000355289.4_Silent_p.L616L|GRM1_ENST00000507907.1_Silent_p.L616L|GRM1_ENST00000392299.2_Silent_p.L616L|GRM1_ENST00000361719.2_Silent_p.L616L			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	616					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)		TCTTTGTACTGTACCGGGACA	0.483																																																0													264	221	236					6																	146720023		2203	4300	6503	SO:0001819	synonymous_variant	2911			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.1848G>T	6.37:g.146720023G>T			B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Silent	SNP	ENST00000282753.1	37	CCDS5209.1																																																																																				0.483	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		T	146720023	G	T	146720023	2	4	722	1	0	0	0	0	0	0	0	1	6798	1364	48	4		4	GRM1	6	146720023	Silent	SNP	G	TCGA-KM-8476-01A-11D-2310-10	113319519	146720023	24395044	31	40526											
PLG	5340	bcgsc.ca	37	6	161143514	161143514	+	Missense_Mutation	SNP	A	A	T			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr6:161143514A>T	ENST00000308192.9	+	10	1234	c.1171A>T	c.(1171-1173)Acc>Tcc	p.T391S		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	391	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)	CACATCCTCCACCACCACCAC	0.483																																																0													138	124	128					6																	161143514		2203	4300	6503	SO:0001583	missense	5340			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.1171A>T	6.37:g.161143514A>T	ENSP00000308938:p.Thr391Ser		Q15146|Q5TEH4|Q6PA00	Missense_Mutation	SNP	ENST00000308192.9	37	CCDS5279.1	.	.	.	.	.	.	.	.	.	.	A	16.00	2.999575	0.54147	.	.	ENSG00000122194	ENST00000308192	T	0.63744	-0.06	5.18	5.18	0.71444	Kringle (5);Kringle-like fold (1);	0.641780	0.12774	U	0.440292	T	0.65698	0.2716	M	0.81341	2.54	0.23113	N	0.99828	P	0.37015	0.578	P	0.51297	0.665	T	0.64525	-0.6387	10	0.62326	D	0.03	.	10.6335	0.45551	0.8391:0.1609:0.0:0.0	.	391	P00747	PLMN_HUMAN	S	391	ENSP00000308938:T391S	ENSP00000308938:T391S	T	+	1	0	PLG	161063504	0.981000	0.34729	0.394000	0.26270	0.502000	0.33828	2.748000	0.47483	1.952000	0.56665	0.383000	0.25322	ACC		0.483	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		T	161143514	A	T	161143514	3	4	722	1	0	0	0	0	1	0	0	0	12088	159	6	5	1213	5	PLG	6	161143514	Missense_Mutation	SNP	A	TCGA-KM-8476-01A-11D-2310-10	14423491	161143514	9971553	32	40527											
SFT2D1	113402	broad.mit.edu	37	6	166736357	166736357	+	Missense_Mutation	SNP	A	A	G			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr6:166736357A>G	ENST00000361731.3	-	7	537	c.428T>C	c.(427-429)aTc>aCc	p.I143T	SFT2D1_ENST00000487841.1_5'UTR	NM_145169.1	NP_660152.1			SFT2 domain containing 1											NS(1)|central_nervous_system(1)|large_intestine(3)|upper_aerodigestive_tract(1)	6		Breast(66;0.000148)|Prostate(117;0.109)|Ovarian(120;0.199)		OV - Ovarian serous cystadenocarcinoma(33;2.63e-19)|BRCA - Breast invasive adenocarcinoma(81;4.92e-06)|GBM - Glioblastoma multiforme(31;4.58e-05)		TGCATATGGGATGTACGACAG	0.318																																																0													130	124	126					6																	166736357		2203	4300	6503	SO:0001583	missense	113402			AF041429	CCDS5292.1	6q27	2008-02-05	2005-07-25	2005-07-25	ENSG00000198818	ENSG00000198818			21102	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 83"	C6orf83			Standard	NM_145169		Approved	MGC19825, pRGR1	uc003qux.3	Q8WV19	OTTHUMG00000016001	ENST00000361731.3:c.428T>C	6.37:g.166736357A>G	ENSP00000354590:p.Ile143Thr			Missense_Mutation	SNP	ENST00000361731.3	37	CCDS5292.1	.	.	.	.	.	.	.	.	.	.	A	14.73	2.623451	0.46840	.	.	ENSG00000198818	ENST00000361731	T	0.51071	0.72	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.57475	0.2056	H	0.97682	4.055	0.80722	D	1	B	0.31752	0.338	B	0.37015	0.239	T	0.70378	-0.4888	10	0.87932	D	0	-24.6251	12.8362	0.57775	1.0:0.0:0.0:0.0	.	143	Q8WV19	SFT2A_HUMAN	T	143	ENSP00000354590:I143T	ENSP00000354590:I143T	I	-	2	0	SFT2D1	166656347	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	5.854000	0.69503	1.964000	0.57103	0.443000	0.29094	ATC		0.318	SFT2D1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043061.2	NM_145169		G	166736357	A	G	166736357	3	3	722	1	0	0	0	0	1	0	0	0	14191	333	12	3	59	3	SFT2D1	6	166736357	Missense_Mutation	SNP	A	TCGA-KM-8476-01A-11D-2310-10	5592843	166736357	4378710	33	40528											
MUC17	140453	mdanderson.org	37	7	100680472	100680472	+	Missense_Mutation	SNP	G	G	C			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr7:100680472G>C	ENST00000306151.4	+	3	5839	c.5775G>C	c.(5773-5775)agG>agC	p.R1925S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1925	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)					GGGAAGGAAGGCCTCCATTAA	0.502																																																0													246	243	244					7																	100680472		2203	4300	6503	SO:0001583	missense	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.5775G>C	7.37:g.100680472G>C	ENSP00000302716:p.Arg1925Ser		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	N	0.005	-2.151273	0.00325	.	.	ENSG00000169876	ENST00000306151	T	0.02787	4.16	0.579	-1.16	0.09678	.	.	.	.	.	T	0.00815	0.0027	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40683	-0.9550	9	0.02654	T	1	.	0.1144	0.00059	0.2275:0.1978:0.2306:0.3441	.	1925	Q685J3	MUC17_HUMAN	S	1925	ENSP00000302716:R1925S	ENSP00000302716:R1925S	R	+	3	2	MUC17	100467192	0.007000	0.16637	0.000000	0.03702	0.002000	0.02628	0.028000	0.13644	-2.485000	0.00520	-3.513000	0.00033	AGG		0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		C	100680472	G	C	100680472	3	2	722	1	0	0	0	0	1	0	0	0	9976	1194	42	4	5785	4	MUC17	7	100680472	Missense_Mutation	SNP	G	TCGA-KM-8476-01A-11D-2310-10		100680472	58458191	34	40529											
PMPCB	9512	broad.mit.edu	37	7	102944340	102944340	+	Missense_Mutation	SNP	A	A	G			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr7:102944340A>G	ENST00000249269.4	+	5	547	c.509A>G	c.(508-510)gAg>gGg	p.E170G	PMPCB_ENST00000420236.2_Missense_Mutation_p.E65G|PMPCB_ENST00000428154.1_Missense_Mutation_p.E170G	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN	peptidase (mitochondrial processing) beta	170					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						GGAGAAGCAGAGATTGAACGT	0.348																																																0													97	93	95					7																	102944340		2203	4300	6503	SO:0001583	missense	9512			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.509A>G	7.37:g.102944340A>G	ENSP00000249269:p.Glu170Gly		O60416|Q96FV4	Missense_Mutation	SNP	ENST00000249269.4	37	CCDS5730.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.571301	0.86542	.	.	ENSG00000105819	ENST00000249269;ENST00000428154;ENST00000420236	T;T;T	0.21191	2.02;2.02;2.02	5.2	5.2	0.72013	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);Peptidase M16, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.54415	0.1857	M	0.93328	3.405	0.80722	D	1	P;P;D;D;D;D;D	0.69078	0.613;0.952;0.986;0.986;0.986;0.986;0.997	P;P;P;P;P;P;P	0.62649	0.788;0.842;0.842;0.842;0.842;0.842;0.905	T	0.67669	-0.5611	10	0.59425	D	0.04	.	15.0883	0.72174	1.0:0.0:0.0:0.0	.	65;65;170;170;161;170;170	E7ERZ4;B4DM90;A8K1E9;B3KM34;Q96CP5;O75439;G3V0E4	.;.;.;.;.;MPPB_HUMAN;.	G	170;170;65	ENSP00000249269:E170G;ENSP00000390035:E170G;ENSP00000410393:E65G	ENSP00000249269:E170G	E	+	2	0	PMPCB	102731576	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	1.959000	0.56917	0.528000	0.53228	GAG		0.348	PMPCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347913.1	NM_004279		G	102944340	A	G	102944340	3	3	722	1	0	0	0	0	1	0	0	0	12143	304	11	3	527	3	PMPCB	7	102944340	Missense_Mutation	SNP	A	TCGA-KM-8476-01A-11D-2310-10	2263868	102944340	56194323	35	40530											
ABP1	26	broad.mit.edu;mdanderson.org	37	7	150555109	150555109	+	Silent	SNP	C	C	T			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr7:150555109C>T	ENST00000493429.1	+	4	2135	c.1551C>T	c.(1549-1551)cgC>cgT	p.R517R	AOC1_ENST00000416793.2_Silent_p.R517R|AOC1_ENST00000480582.1_3'UTR|AOC1_ENST00000360937.4_Silent_p.R517R|AOC1_ENST00000467291.1_Silent_p.R517R			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	517					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)	TGCACTACCGCGTAGACCTGG	0.567																																																0													53	59	57					7																	150555109		2162	4257	6419	SO:0001819	synonymous_variant	26			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.1551C>T	7.37:g.150555109C>T			C9J690|Q16683|Q16684|Q56II4|Q6GU42	Silent	SNP	ENST00000493429.1	37	CCDS43679.1																																																																																				0.567	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091		T	150555109	C	T	150555109	2	4	722	1	0	0	0	0	0	0	0	1	98	755	27	1		1	ABP1	7	150555109	Silent	SNP	C	TCGA-KM-8476-01A-11D-2310-10	47610769	150555109	8583554	36	40531											
DEFA1	1668	mdanderson.org	37	8	6873603	6873603	+	Missense_Mutation	SNP	T	T	G	rs145076681		TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr8:6873603T>G	ENST00000327857.2	-	3	285	c.194A>C	c.(193-195)gAc>gCc	p.D65A	DEFA1B_ENST00000535841.1_Intron	NM_005217.3	NP_005208.1	P59666	DEF3_HUMAN	defensin, alpha 3, neutrophil-specific	65					antibacterial humoral response (GO:0019731)|defense response to fungus (GO:0050832)|defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular estrogen receptor signaling pathway (GO:0030520)|killing of cells of other organism (GO:0031640)	azurophil granule lumen (GO:0035578)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.D65A(1)		endometrium(1)|prostate(2)	3				COAD - Colon adenocarcinoma(149;0.0561)|READ - Rectum adenocarcinoma(644;0.118)		GCAATAGCAGTCCATGTTTTT	0.498																																																1	Substitution - Missense(1)	prostate(1)											156	118	130					8																	6873603		1957	4128	6085	SO:0001583	missense	1668			M23281	CCDS5962.1	8p23.1	2009-08-05			ENSG00000239839	ENSG00000239839		"Defensins, alpha"	2762	protein-coding gene	gene with protein product		604522		DEF3		8477861, 17214878, 15944200	Standard	NM_005217		Approved	HNP-3		P59666	OTTHUMG00000090381	ENST00000327857.2:c.194A>C	8.37:g.6873603T>G	ENSP00000328359:p.Asp65Ala		P11479|Q14125	Missense_Mutation	SNP	ENST00000327857.2	37	CCDS5962.1	.	.	.	.	.	.	.	.	.	.	.	0.006	-2.042516	0.00402	.	.	ENSG00000239839	ENST00000327857	T	0.41400	1.0	1.01	-2.03	0.07365	.	.	.	.	.	T	0.15046	0.0363	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.24154	-1.0168	7	0.08179	T	0.78	.	0.1742	0.00116	0.3008:0.2168:0.2655:0.217	.	65	P59666	DEF3_HUMAN	A	65	ENSP00000328359:D65A	ENSP00000328359:D65A	D	-	2	0	DEFA3	6861013	0.002000	0.14202	0.000000	0.03702	0.011000	0.07611	-0.189000	0.09629	-1.937000	0.01047	-0.806000	0.03193	GAC		0.498	DEFA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206753.2	NM_005217		G	6873603	T	G	6873603	3	3	722	1	0	0	0	0	1	0	0	0	4390	1667	58	5	680	5	DEFA1	8	6873603	Missense_Mutation	SNP	T	TCGA-KM-8476-01A-11D-2310-10		6873603	139490419	37	40532											
MFHAS1	9258	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	8	8748357	8748357	+	Missense_Mutation	SNP	T	T	A			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr8:8748357T>A	ENST00000276282.6	-	1	2798	c.2212A>T	c.(2212-2214)Aat>Tat	p.N738Y		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	738										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)		AAGAAGACATTGAGGATGTCG	0.587																																					Melanoma(103;1201 2045 17515 28966)											0													71	67	68					8																	8748357		2203	4300	6503	SO:0001583	missense	9258			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.2212A>T	8.37:g.8748357T>A	ENSP00000276282:p.Asn738Tyr		Q96CI0	Missense_Mutation	SNP	ENST00000276282.6	37	CCDS34844.1	.	.	.	.	.	.	.	.	.	.	T	16.90	3.251286	0.59212	.	.	ENSG00000147324	ENST00000276282	T	0.36157	1.27	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.55000	0.1893	L	0.56769	1.78	0.58432	D	0.999999	D	0.76494	0.999	D	0.81914	0.995	T	0.57429	-0.7813	10	0.59425	D	0.04	.	13.6484	0.62297	0.0:0.0:0.0:1.0	.	738	Q9Y4C4	MFHA1_HUMAN	Y	738	ENSP00000276282:N738Y	ENSP00000276282:N738Y	N	-	1	0	MFHAS1	8785767	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.499000	0.81566	2.008000	0.58898	0.533000	0.62120	AAT		0.587	MFHAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374724.2	NM_004225		A	8748357	T	A	8748357	3	1	722	1	0	0	0	0	1	0	0	0	9523	1812	63	5	958	5	MFHAS1	8	8748357	Missense_Mutation	SNP	T	TCGA-KM-8476-01A-11D-2310-10	1874754	8748357	137615665	38	40533											
PABPC1	26986	broad.mit.edu	37	8	101724606	101724606	+	Missense_Mutation	SNP	G	G	A	rs202060459		TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr8:101724606G>A	ENST00000318607.5	-	7	2084	c.956C>T	c.(955-957)aCa>aTa	p.T319I	PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000519004.1_Missense_Mutation_p.T274I|PABPC1_ENST00000522387.1_Missense_Mutation_p.T287I	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	319	RRM 4. {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)	p.T319I(2)		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)			ACTAGTGATTGTACCAAATGG	0.284																																																2	Substitution - Missense(2)	kidney(1)|endometrium(1)											154	166	162					8																	101724606		2203	4298	6501	SO:0001583	missense	26986			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.956C>T	8.37:g.101724606G>A	ENSP00000313007:p.Thr319Ile		Q15097|Q93004	Missense_Mutation	SNP	ENST00000318607.5	37	CCDS6289.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.8|26.8	4.768189|4.768189	0.90020|0.90020	.|.	.|.	ENSG00000070756|ENSG00000070756	ENST00000519100|ENST00000318607;ENST00000347137;ENST00000519004;ENST00000522387	.|T;T;T	.|0.16196	.|2.36;2.36;2.36	5.65|5.65	5.65|5.65	0.86999|0.86999	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	.|0.000000	.|0.64402	.|D	.|0.000009	.|T	.|0.37652	.|0.1011	M|M	0.62154|0.62154	1.92|1.92	0.80722|0.80722	D|D	1|1	.|P;P;D	.|0.54964	.|0.917;0.784;0.969	.|P;B;P	.|0.56916	.|0.747;0.442;0.809	.|T	.|0.03784	.|-1.1004	.|10	.|0.87932	.|D	.|0	.|.	20.0919|20.0919	0.97823|0.97823	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|287;319;319	.|E7ERJ7;B3KT93;P11940	.|.;.;PABP1_HUMAN	X|I	188|319;319;274;287	.|ENSP00000313007:T319I;ENSP00000429594:T274I;ENSP00000429395:T287I	.|ENSP00000313007:T319I	Q|T	-|-	1|2	0|0	PABPC1|PABPC1	101793782|101793782	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.776000|9.776000	0.99001|0.99001	2.824000|2.824000	0.97209|0.97209	0.655000|0.655000	0.94253|0.94253	CAA|ACA		0.284	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568		A	101724606	G	A	101724606	3	1	722	1	0	0	0	0	1	0	0	0	11365	1377	48	2	986	2	PABPC1	8	101724606	Missense_Mutation	SNP	G	TCGA-KM-8476-01A-11D-2310-10	92976249	101724606	44639416	39	40534											
ADCY8	114	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	8	131922101	131922101	+	Missense_Mutation	SNP	G	G	A			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr8:131922101G>A	ENST00000286355.5	-	6	3585	c.1493C>T	c.(1492-1494)tCa>tTa	p.S498L	ADCY8_ENST00000377928.3_Missense_Mutation_p.S498L	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	498					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)			TTTTGTCCTTGACCGCACATA	0.448										HNSCC(32;0.087)																																						0													169	129	143					8																	131922101		2203	4300	6503	SO:0001583	missense	114			Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"Adenylate cyclases"	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.1493C>T	8.37:g.131922101G>A	ENSP00000286355:p.Ser498Leu			Missense_Mutation	SNP	ENST00000286355.5	37	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.318073	0.81469	.	.	ENSG00000155897	ENST00000286355;ENST00000377928;ENST00000522949	T;T;T	0.80653	-1.4;-1.4;-1.4	5.8	5.8	0.92144	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.120729	0.64402	D	0.000017	T	0.79540	0.4463	N	0.11789	0.175	0.36692	D	0.879639	P;D	0.54047	0.948;0.964	P;P	0.57204	0.682;0.815	D	0.84098	0.0394	10	0.54805	T	0.06	.	19.0419	0.93004	0.0:0.0:1.0:0.0	.	498;498	E7EVL1;P40145	.;ADCY8_HUMAN	L	498;498;113	ENSP00000286355:S498L;ENSP00000367161:S498L;ENSP00000428010:S113L	ENSP00000286355:S498L	S	-	2	0	ADCY8	131991283	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.658000	0.61497	2.758000	0.94735	0.561000	0.74099	TCA		0.448	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			A	131922101	G	A	131922101	3	1	722	1	0	0	0	0	1	0	0	0	300	1294	45	2	2314	2	ADCY8	8	131922101	Missense_Mutation	SNP	G	TCGA-KM-8476-01A-11D-2310-10	30197495	131922101	14441921	40	40535											
CNTNAP3	79937	mdanderson.org	37	9	39103743	39103743	+	Missense_Mutation	SNP	C	C	T	rs7852039	byFrequency	TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr9:39103743C>T	ENST00000297668.6	-	16	2607	c.2534G>A	c.(2533-2535)cGt>cAt	p.R845H	CNTNAP3_ENST00000377656.2_Missense_Mutation_p.R844H|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.R757H	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	845	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.		R -> H (in dbSNP:rs7852039). {ECO:0000269|PubMed:11214970}.		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)		GAGCTTACCACGCAGCTCAAT	0.418													C|||	934	0.186502	0.062	0.1354	5008	,	,		15532	0.3036		0.2376	False		,,,				2504	0.2178															0								C	HIS/ARG	392,4014	190.5+/-216.4	24,344,1835	39	43	42		2534	-1.3	0	9	dbSNP_116	42	1860,6740	331.0+/-319.4	208,1444,2648	yes	missense	CNTNAP3	NM_033655.3	29	232,1788,4483	TT,TC,CC		21.6279,8.897,17.3151	benign	845/1289	39103743	2252,10754	2203	4300	6503	SO:0001583	missense	79937			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.2534G>A	9.37:g.39103743C>T	ENSP00000297668:p.Arg845His		B1AMA0|Q9C0E9	Missense_Mutation	SNP	ENST00000297668.6	37	CCDS6616.1	439	0.20100732600732601	26	0.052845528455284556	58	0.16022099447513813	164	0.2867132867132867	191	0.2519788918205805	C	11.25	1.582659	0.28180	0.08897	0.216279	ENSG00000106714	ENST00000297668;ENST00000377656;ENST00000358144	T;T;T	0.42513	0.97;0.97;0.97	3.23	-1.29	0.09288	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.00012	0.0000	L	0.42487	1.325	0.50813	P	1.0299999999996423E-4	B;B;B	0.27286	0.174;0.076;0.032	B;B;B	0.30179	0.048;0.112;0.032	T	0.37596	-0.9699	8	0.16896	T	0.51	.	3.4899	0.07634	0.195:0.2478:0.0:0.5572	rs7852039;rs7852039	845;844;845	Q9BZ76-2;A6NC89;Q9BZ76	.;.;CNTP3_HUMAN	H	845;844;757	ENSP00000297668:R845H;ENSP00000366884:R844H;ENSP00000350863:R757H	ENSP00000297668:R845H	R	-	2	0	CNTNAP3	39093743	0.000000	0.05858	0.008000	0.14137	0.241000	0.25554	-0.236000	0.09003	-0.130000	0.11599	0.485000	0.47835	CGT		0.418	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	NM_033655		T	39103743	C	T	39103743	3	4	722	1	0	0	0	0	1	0	0	0	3650	536	19	1	1368	1	CNTNAP3	9	39103743	Missense_Mutation	SNP	C	TCGA-KM-8476-01A-11D-2310-10		39103743	102109688	41	40536											
PCSK5	5125	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	9	78749078	78749078	+	Missense_Mutation	SNP	C	C	T			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr9:78749078C>T	ENST00000545128.1	+	10	1800	c.1262C>T	c.(1261-1263)gCg>gTg	p.A421V	PCSK5_ENST00000376752.4_Missense_Mutation_p.A421V|PCSK5_ENST00000376767.3_Missense_Mutation_p.A421V	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	421	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						ACTTCCCGTGCGGGACATTTG	0.398																																																0													129	119	122					9																	78749078		2203	4299	6502	SO:0001583	missense	5125				CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.1262C>T	9.37:g.78749078C>T	ENSP00000446280:p.Ala421Val		F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	ENST00000545128.1	37	CCDS55320.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.579348	0.86645	.	.	ENSG00000099139	ENST00000545128;ENST00000376754;ENST00000376767;ENST00000396108;ENST00000376752;ENST00000424854	D;D;D;D	0.87729	-2.29;-2.29;-2.29;-2.29	5.65	5.65	0.86999	.	0.210963	0.49916	D	0.000139	T	0.81403	0.4815	N	0.25789	0.76	0.45704	D	0.998616	P;P	0.45957	0.599;0.869	B;B	0.41666	0.248;0.363	D	0.84046	0.0367	10	0.72032	D	0.01	-19.0199	14.869	0.70441	0.1436:0.8564:0.0:0.0	.	421;421	Q92824-2;B1AMG5	.;.	V	421;124;421;421;421;94	ENSP00000446280:A421V;ENSP00000365958:A421V;ENSP00000365943:A421V;ENSP00000411654:A94V	ENSP00000365943:A421V	A	+	2	0	PCSK5	77938898	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.581000	0.67471	2.817000	0.96982	0.563000	0.77884	GCG		0.398	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				T	78749078	C	T	78749078	3	4	722	1	0	0	0	0	1	0	0	0	11605	768	27	1	1300	1	PCSK5	9	78749078	Missense_Mutation	SNP	C	TCGA-KM-8476-01A-11D-2310-10	39645335	78749078	62464353	42	40537											
ODF2	4957	broad.mit.edu	37	9	131245156	131245156	+	Missense_Mutation	SNP	A	A	G			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr9:131245156A>G	ENST00000434106.3	+	10	1340	c.977A>G	c.(976-978)cAa>cGa	p.Q326R	ODF2_ENST00000393533.2_Missense_Mutation_p.Q326R|ODF2_ENST00000372814.3_Missense_Mutation_p.Q370R|ODF2_ENST00000448249.3_Missense_Mutation_p.Q245R|ODF2_ENST00000604420.1_Missense_Mutation_p.Q326R|ODF2_ENST00000393527.3_Missense_Mutation_p.Q302R|ODF2_ENST00000444119.2_Missense_Mutation_p.Q302R|ODF2_ENST00000372807.5_Missense_Mutation_p.Q321R|ODF2_ENST00000351030.3_Missense_Mutation_p.Q321R|ODF2_ENST00000372791.3_Missense_Mutation_p.Q307R|ODF2_ENST00000535026.1_3'UTR|ODF2_ENST00000546203.1_Missense_Mutation_p.Q307R	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	326					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						CAGGAAATACAATGTGAGAAG	0.522																																																0													77	80	79					9																	131245156		2203	4300	6503	SO:0001583	missense	4957			AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"cancer/testis antigen 134"	602015	"outer dense fibre of sperm tails 2"			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.977A>G	9.37:g.131245156A>G	ENSP00000403453:p.Gln326Arg		B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Missense_Mutation	SNP	ENST00000434106.3	37	CCDS56588.1	.	.	.	.	.	.	.	.	.	.	A	16.16	3.043499	0.55003	.	.	ENSG00000136811	ENST00000393533;ENST00000372814;ENST00000351030;ENST00000372796;ENST00000303890;ENST00000448249;ENST00000546203;ENST00000372791	T;T;T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.87;1.01;1.01;1.01	5.66	5.66	0.87406	.	0.455332	0.26750	N	0.022693	T	0.39627	0.1085	L	0.46157	1.445	0.80722	D	1	B;B;B;B;B;B;B;B;B;B	0.19706	0.038;0.003;0.038;0.003;0.035;0.035;0.003;0.038;0.012;0.006	B;B;B;B;B;B;B;B;B;B	0.19391	0.008;0.013;0.014;0.01;0.008;0.013;0.013;0.008;0.025;0.013	T	0.19614	-1.0300	10	0.51188	T	0.08	-16.8018	14.703	0.69168	1.0:0.0:0.0:0.0	.	307;321;245;260;326;370;321;307;326;302	Q5BJF6-8;Q5BJF6-4;Q5BJF6-9;Q5BJF6-2;B4DX73;Q5BJF6-7;B1AND4;Q5BJF6-5;Q5BJF6;Q5BJF6-3	.;.;.;.;.;.;.;.;ODFP2_HUMAN;.	R	326;370;321;326;302;245;307;307	ENSP00000377166:Q326R;ENSP00000361901:Q370R;ENSP00000342581:Q321R;ENSP00000361882:Q326R;ENSP00000307781:Q302R;ENSP00000396687:Q245R;ENSP00000437579:Q307R;ENSP00000361877:Q307R	ENSP00000307781:Q302R	Q	+	2	0	ODF2	130284977	0.998000	0.40836	0.964000	0.40570	0.995000	0.86356	6.107000	0.71517	2.153000	0.67306	0.459000	0.35465	CAA		0.522	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3			G	131245156	A	G	131245156	3	3	722	1	0	0	0	0	1	0	0	0	10829	130	5	3	1066	3	ODF2	9	131245156	Missense_Mutation	SNP	A	TCGA-KM-8476-01A-11D-2310-10	52496078	131245156	9968275	43	40538											
NUP188	23511	broad.mit.edu	37	9	131750367	131750367	+	Missense_Mutation	SNP	A	A	G			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr9:131750367A>G	ENST00000372577.2	+	24	2456	c.2435A>G	c.(2434-2436)aAg>aGg	p.K812R		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	812					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						CTGCTGATCAAGACAGTGAAA	0.502																																																0													187	169	175					9																	131750367		2203	4300	6503	SO:0001583	missense	23511			D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"KIAA0169"	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.2435A>G	9.37:g.131750367A>G	ENSP00000361658:p.Lys812Arg		Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	ENST00000372577.2	37	CCDS35156.1	.	.	.	.	.	.	.	.	.	.	A	15.10	2.732046	0.48939	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.64991	-0.13	5.87	5.87	0.94306	.	0.046254	0.85682	D	0.000000	T	0.46229	0.1382	N	0.08118	0	0.42132	D	0.991474	B;B	0.31125	0.02;0.309	B;B	0.35182	0.035;0.197	T	0.48375	-0.9041	10	0.32370	T	0.25	-4.2014	15.7569	0.78037	1.0:0.0:0.0:0.0	.	145;812	E9PET9;Q5SRE5	.;NU188_HUMAN	R	701;812	ENSP00000361658:K812R	ENSP00000349125:K701R	K	+	2	0	NUP188	130790188	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.901000	0.75693	2.371000	0.80710	0.533000	0.62120	AAG		0.502	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2			G	131750367	A	G	131750367	3	3	722	1	0	0	0	0	1	0	0	0	10760	72	3	3	2529	3	NUP188	9	131750367	Missense_Mutation	SNP	A	TCGA-KM-8476-01A-11D-2310-10	505211	131750367	9463064	44	40539											
PPAPDC3	84814	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	9	134165625	134165625	+	Missense_Mutation	SNP	G	G	A			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr9:134165625G>A	ENST00000372264.3	+	1	545	c.241G>A	c.(241-243)Gcc>Acc	p.A81T	PPAPDC3_ENST00000372261.1_Missense_Mutation_p.A81T	NM_032728.3	NP_116117.3	Q8NBV4	PPAC3_HUMAN	phosphatidic acid phosphatase type 2 domain containing 3	81	interaction with MTOR. {ECO:0000250}.				negative regulation of myotube differentiation (GO:0010832)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	hydrolase activity (GO:0016787)			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16	all_hematologic(7;0.0119)			OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)		CAAGGGCATCGCCTTCAACTC	0.657																																																0													77	73	75					9																	134165625		2203	4300	6503	SO:0001583	missense	84814			AK027568	CCDS6942.1	9q34.2-q34.3	2008-02-26	2005-07-15	2005-07-15	ENSG00000160539	ENSG00000160539			28174	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 67"	C9orf67		12958361	Standard	NM_032728		Approved	MGC12921, FLJ14662, NET39	uc004cal.2	Q8NBV4	OTTHUMG00000020822	ENST00000372264.3:c.241G>A	9.37:g.134165625G>A	ENSP00000361338:p.Ala81Thr		Q5T6P0|Q96SS7|Q9BRC3	Missense_Mutation	SNP	ENST00000372264.3	37	CCDS6942.1	.	.	.	.	.	.	.	.	.	.	G	35	5.433692	0.96150	.	.	ENSG00000160539	ENST00000372264;ENST00000372261	T;T	0.58506	1.31;0.33	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.72003	0.3407	L	0.55213	1.73	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.69997	-0.4993	10	0.39692	T	0.17	-31.0681	18.1257	0.89585	0.0:0.0:1.0:0.0	.	81	Q8NBV4	PPAC3_HUMAN	T	81	ENSP00000361338:A81T;ENSP00000361335:A81T	ENSP00000361335:A81T	A	+	1	0	PPAPDC3	133155446	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.424000	0.97464	2.530000	0.85305	0.561000	0.74099	GCC		0.657	PPAPDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054724.1	NM_032728		A	134165625	G	A	134165625	3	1	722	1	0	0	0	0	1	0	0	0	12298	1087	38	1	243	1	PPAPDC3	9	134165625	Missense_Mutation	SNP	G	TCGA-KM-8476-01A-11D-2310-10	2415258	134165625	7047806	45	40540											
ZMYND11	10771	bcgsc.ca	37	10	283550	283550	+	Missense_Mutation	SNP	A	A	G			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr10:283550A>G	ENST00000397962.3	+	6	970	c.542A>G	c.(541-543)aAg>aGg	p.K181R	ZMYND11_ENST00000509513.2_Missense_Mutation_p.K181R|ZMYND11_ENST00000545619.1_Missense_Mutation_p.K87R|ZMYND11_ENST00000309776.4_Missense_Mutation_p.K141R|ZMYND11_ENST00000397959.3_Intron|ZMYND11_ENST00000535374.1_Missense_Mutation_p.K24R|ZMYND11_ENST00000402736.1_Intron|ZMYND11_ENST00000381604.4_Missense_Mutation_p.K141R|ZMYND11_ENST00000602682.1_Intron|ZMYND11_ENST00000381607.4_Missense_Mutation_p.K87R|ZMYND11_ENST00000381602.4_Missense_Mutation_p.K141R|ZMYND11_ENST00000403354.1_Missense_Mutation_p.K127R|ZMYND11_ENST00000381584.1_Missense_Mutation_p.K164R|ZMYND11_ENST00000558098.2_Missense_Mutation_p.K181R|ZMYND11_ENST00000381591.1_Missense_Mutation_p.K181R			Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	181	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cell cycle (GO:0007049)|cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|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)|regulation of transcription elongation from RNA polymerase II promoter (GO:0034243)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		AAAAAGGGGAAGGACAATAAA	0.408																																																0													103	99	101					10																	283550		2203	4300	6503	SO:0001583	missense	10771			X86098	CCDS7052.1, CCDS7053.1, CCDS7052.2, CCDS55696.1, CCDS55697.1, CCDS7053.2, CCDS73060.1, CCDS73061.1	10p14	2011-01-26	2011-01-26		ENSG00000015171	ENSG00000015171		"Zinc fingers, MYND-type"	16966	protein-coding gene	gene with protein product		608668	"zinc finger, MYND domain containing 11"			7621829, 10734313	Standard	NM_006624		Approved	BS69	uc010pzx.2	Q15326	OTTHUMG00000017526	ENST00000397962.3:c.542A>G	10.37:g.283550A>G	ENSP00000381053:p.Lys181Arg		B2R6G8|B7Z293|F6UH50|Q2LD45|Q2LD46|Q2LD47|Q2LD48|Q5VUI1|Q8N4B3	Missense_Mutation	SNP	ENST00000397962.3	37	CCDS7052.2	.	.	.	.	.	.	.	.	.	.	A	31	5.083659	0.94050	.	.	ENSG00000015171	ENST00000439456;ENST00000397962;ENST00000309776;ENST00000381602;ENST00000509513;ENST00000381591;ENST00000403354;ENST00000381607;ENST00000381604;ENST00000397955;ENST00000381584;ENST00000545619;ENST00000535374	T;T;T;T;T;T;T;T;T;T	0.18960	2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18	5.4	5.4	0.78164	Bromodomain (3);	0.000000	0.85682	D	0.000000	T	0.36193	0.0958	L	0.44542	1.39	.	.	.	D;D;P;D;D;P;P	0.63046	0.984;0.992;0.795;0.984;0.979;0.948;0.948	P;P;P;P;D;P;P	0.71414	0.743;0.872;0.636;0.743;0.973;0.584;0.482	T	0.13495	-1.0507	9	0.18710	T	0.47	-29.9056	15.7172	0.77677	1.0:0.0:0.0:0.0	.	141;181;127;181;127;127;127	Q15326;Q2LD45;B7Z2J6;Q2LD48;B0QZE2;Q2LD46;Q2LD47	ZMY11_HUMAN;.;.;.;.;.;.	R	127;181;141;141;181;181;127;87;141;196;164;87;24	ENSP00000381053:K181R;ENSP00000309992:K141R;ENSP00000371015:K141R;ENSP00000424205:K181R;ENSP00000371003:K181R;ENSP00000385484:K127R;ENSP00000371020:K87R;ENSP00000371017:K141R;ENSP00000370996:K164R;ENSP00000438461:K87R	ENSP00000309992:K141R	K	+	2	0	ZMYND11	273550	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	8.880000	0.92407	2.170000	0.68504	0.460000	0.39030	AAG		0.408	ZMYND11-206	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046382.4	NM_006624		G	283550	A	G	283550	3	3	722	1	0	0	0	0	1	0	0	0	17711	72	3	3	560	3	ZMYND11	10	283550	Missense_Mutation	SNP	A	TCGA-KM-8476-01A-11D-2310-10		283550	135251197	46	40541											
CUL2	8453	ucsc.edu;bcgsc.ca	37	10	35333504	35333504	+	Missense_Mutation	SNP	T	T	C			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr10:35333504T>C	ENST00000374748.1	-	9	1017	c.704A>G	c.(703-705)tAt>tGt	p.Y235C	CUL2_ENST00000374742.1_Missense_Mutation_p.Y235C|CUL2_ENST00000374749.3_Missense_Mutation_p.Y235C|CUL2_ENST00000374751.3_Missense_Mutation_p.Y235C|CUL2_ENST00000537177.1_Missense_Mutation_p.Y254C|CUL2_ENST00000374746.1_Missense_Mutation_p.Y235C|CUL2_ENST00000602371.1_Missense_Mutation_p.Y178C			Q13617	CUL2_HUMAN	cullin 2	235					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						CTTTTCCATATACTGTGAGCA	0.299																																																0													61	66	64					10																	35333504		2201	4287	6488	SO:0001583	missense	8453			U83410	CCDS7179.1, CCDS73086.1	10p11.2	2011-05-24			ENSG00000108094	ENSG00000108094			2552	protein-coding gene	gene with protein product		603135				8681378	Standard	NM_003591		Approved		uc021ppa.1	Q13617	OTTHUMG00000017950	ENST00000374748.1:c.704A>G	10.37:g.35333504T>C	ENSP00000363880:p.Tyr235Cys		B3KT95|B7Z6K8|D3DRY6|G3V1S2|O00200|Q5T2B6|Q9UNF9	Missense_Mutation	SNP	ENST00000374748.1	37	CCDS7179.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.388686	0.82902	.	.	ENSG00000108094	ENST00000374751;ENST00000374748;ENST00000374746;ENST00000374749;ENST00000374754;ENST00000374742;ENST00000537177	T;T;T;T;T;T	0.61510	0.1;0.1;0.1;0.1;0.1;0.1	5.88	5.88	0.94601	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.80391	0.4614	M	0.88979	2.995	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	0.84297	0.0503	10	0.87932	D	0	-14.4811	16.2961	0.82769	0.0:0.0:0.0:1.0	.	235;254;235	Q5T2B5;G3V1S2;Q13617	.;.;CUL2_HUMAN	C	235;235;235;235;178;235;254	ENSP00000363883:Y235C;ENSP00000363880:Y235C;ENSP00000363878:Y235C;ENSP00000363881:Y235C;ENSP00000363874:Y235C;ENSP00000444856:Y254C	ENSP00000363874:Y235C	Y	-	2	0	CUL2	35373510	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.040000	0.89188	2.250000	0.74265	0.454000	0.30748	TAT		0.299	CUL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047538.1	NM_003591		C	35333504	T	C	35333504	3	2	722	1	0	0	0	0	1	0	0	0	4057	1406	49	3	1589	3	CUL2	10	35333504	Missense_Mutation	SNP	T	TCGA-KM-8476-01A-11D-2310-10	35049954	35333504	100201243	47	40542											
ANK3	288	broad.mit.edu	37	10	61832802	61832802	+	Missense_Mutation	SNP	C	C	T			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr10:61832802C>T	ENST00000280772.2	-	37	8028	c.7837G>A	c.(7837-7839)Gca>Aca	p.A2613T	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)	2613					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						TTAGGGCGTGCCTTTTTCTCT	0.443																																																0																																										SO:0001583	missense	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.7837G>A	10.37:g.61832802C>T	ENSP00000280772:p.Ala2613Thr		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.828684	0.32329	.	.	ENSG00000151150	ENST00000280772	T	0.63255	-0.03	5.66	-1.93	0.07594	.	1.079830	0.07306	N	0.874907	T	0.40670	0.1126	N	0.14661	0.345	0.80722	D	1	B	0.12630	0.006	B	0.12156	0.007	T	0.19321	-1.0309	10	0.18710	T	0.47	.	8.9934	0.36037	0.1972:0.339:0.4638:0.0	.	2613	Q12955	ANK3_HUMAN	T	2613	ENSP00000280772:A2613T	ENSP00000280772:A2613T	A	-	1	0	ANK3	61502808	0.995000	0.38212	0.991000	0.47740	0.990000	0.78478	0.581000	0.23819	-0.208000	0.10171	0.462000	0.41574	GCA		0.443	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		T	61832802	C	T	61832802	3	4	722	1	0	0	0	0	1	0	0	0	622	739	26	2	5637	2	ANK3	10	61832802	Missense_Mutation	SNP	C	TCGA-KM-8476-01A-11D-2310-10	26499298	61832802	73701945	48	40543											
NRAP	4892	hgsc.bcm.edu;mdanderson.org	37	10	115381805	115381805	+	Silent	SNP	G	G	A			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr10:115381805G>A	ENST00000359988.3	-	24	2836	c.2592C>T	c.(2590-2592)ttC>ttT	p.F864F	NRAP_ENST00000360478.3_Silent_p.F829F|NRAP_ENST00000369360.3_Silent_p.F837F|NRAP_ENST00000369358.4_Silent_p.F872F	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)		TGGTGTCCTCGAATCCCTTCT	0.527																																																0													230	174	193					10																	115381805		2203	4300	6503	SO:0001819	synonymous_variant	4892				CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.2592C>T	10.37:g.115381805G>A				Silent	SNP	ENST00000359988.3	37	CCDS7579.1																																																																																				0.527	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		A	115381805	G	A	115381805	2	1	722	1	0	0	0	0	0	0	0	1	10640	1049	37	1		1	NRAP	10	115381805	Silent	SNP	G	TCGA-KM-8476-01A-11D-2310-10	53549003	115381805	20152942	49	40544											
TCERG1L	256536	broad.mit.edu	37	10	132932683	132932683	+	Silent	SNP	T	T	C			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr10:132932683T>C	ENST00000368642.4	-	8	1303	c.1218A>G	c.(1216-1218)gaA>gaG	p.E406E		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	406										cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		CCCTGTTGTCTTCAGAACTGG	0.507																																																0													119	94	102					10																	132932683		2203	4299	6502	SO:0001819	synonymous_variant	256536			AK096269	CCDS7662.2	10q26.3	2006-04-12			ENSG00000176769	ENSG00000176769			23533	protein-coding gene	gene with protein product							Standard	NM_174937		Approved	FLJ38950	uc001lkp.3	Q5VWI1	OTTHUMG00000019276	ENST00000368642.4:c.1218A>G	10.37:g.132932683T>C			Q5VWI2|Q86XM8	Silent	SNP	ENST00000368642.4	37	CCDS7662.2																																																																																				0.507	TCERG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091619.2	NM_174937		C	132932683	T	C	132932683	2	2	722	1	0	0	0	0	0	0	0	1	15691	1606	56	3		3	TCERG1L	10	132932683	Silent	SNP	T	TCGA-KM-8476-01A-11D-2310-10	17550878	132932683	2602064	50	40545											
FRG2B	441581	mdanderson.org	37	10	135439015	135439015	+	Missense_Mutation	SNP	T	T	C	rs75470891		TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr10:135439015T>C	ENST00000425520.1	-	4	477	c.425A>G	c.(424-426)gAt>gGt	p.D142G	FRG2B_ENST00000443774.1_Missense_Mutation_p.D143G	NM_001080998.1	NP_001074467.1	Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	142						nucleus (GO:0005634)		p.D143G(1)|p.D142G(1)		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)		ATGGTGGGCATCACAGGTCTC	0.517																																																2	Substitution - Missense(2)	prostate(2)											94	106	102					10																	135439015		2200	4298	6498	SO:0001583	missense	441581			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.425A>G	10.37:g.135439015T>C	ENSP00000401310:p.Asp142Gly		Q5VSQ1	Missense_Mutation	SNP	ENST00000425520.1	37	CCDS44502.1	.	.	.	.	.	.	.	.	.	.	.	7.820	0.717602	0.15372	.	.	ENSG00000225899	ENST00000443774;ENST00000425520	T;T	0.46063	0.88;0.88	.	.	.	.	2.387620	0.01707	N	0.027493	T	0.45115	0.1326	N	0.19112	0.55	0.80722	P	0.0	D	0.61697	0.99	D	0.66351	0.943	T	0.44967	-0.9293	7	0.25751	T	0.34	-0.0211	.	.	.	.	142	Q96QU4	FRG2B_HUMAN	G	143;142	ENSP00000408343:D143G;ENSP00000401310:D142G	ENSP00000401310:D142G	D	-	2	0	FRG2B	135289005	0.038000	0.19896	0.258000	0.24420	0.260000	0.26232	0.264000	0.18497	0.103000	0.17682	0.102000	0.15555	GAT		0.517	FRG2B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467780.1	NM_001080998		C	135439015	T	C	135439015	3	2	722	1	0	0	0	0	1	0	0	0	6049	1435	50	3	414	3	FRG2B	10	135439015	Missense_Mutation	SNP	T	TCGA-KM-8476-01A-11D-2310-10	2506332	135439015	95732	51	40546											
SIRT3	23410	broad.mit.edu	37	11	224195	224195	+	Silent	SNP	G	G	A	rs202035351	byFrequency	TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr11:224195G>A	ENST00000382743.4	-	5	954	c.852C>T	c.(850-852)acC>acT	p.T284T	SIRT3_ENST00000528702.1_5'Flank|SIRT3_ENST00000529382.1_Silent_p.T142T|SIRT3_ENST00000525319.1_Silent_p.T203T|SIRT3_ENST00000524564.1_Silent_p.T220T|SIRT3_ENST00000532956.1_Intron	NM_001017524.2|NM_012239.5	NP_001017524.1|NP_036371.1	Q9NTG7	SIR3_HUMAN	sirtuin 3	284	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)		TCACAACGCCGGTGCAGACCG	0.572													G|||	2	0.000399361	0.0	0.0	5008	,	,		17366	0.001		0.0	False		,,,				2504	0.001															0													61	55	57					11																	224195		2203	4300	6503	SO:0001819	synonymous_variant	23410			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.852C>T	11.37:g.224195G>A			B7Z5U6|Q9Y6E8	Silent	SNP	ENST00000382743.4	37	CCDS7691.1																																																																																				0.572	SIRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239288.3			A	224195	G	A	224195	2	1	722	1	0	0	0	0	0	0	0	1	14345	1103	39	1		1	SIRT3	11	224195	Silent	SNP	G	TCGA-KM-8476-01A-11D-2310-10		224195	134782321	52	40547											
MUC2	4583	mdanderson.org	37	11	1093452	1093452	+	Silent	SNP	G	G	A	rs34136803		TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr11:1093452G>A	ENST00000441003.2	+	30	5298	c.5271G>A	c.(5269-5271)ccG>ccA	p.P1757P	MUC2_ENST00000359061.5_Silent_p.P1724P|MUC2_ENST00000333592.6_Silent_p.P45P|MUC2_ENST00000361558.6_Intron	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0					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)		p.P1724P(1)|p.P1757P(1)		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)	ccccaaccccgacacccaccg	0.617																																																2	Substitution - coding silent(2)	prostate(2)											107	134	125					11																	1093452		2040	4045	6085	SO:0001819	synonymous_variant	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.5271G>A	11.37:g.1093452G>A			Q14878	Silent	SNP	ENST00000441003.2	37																																																																																					0.617	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		A	1093452	G	A	1093452	2	1	722	1	0	0	0	0	0	0	0	1	9977	1045	37	1		1	MUC2	11	1093452	Silent	SNP	G	TCGA-KM-8476-01A-11D-2310-10	869257	1093452	133913064	53	40548											
DNHD1	144132	bcgsc.ca	37	11	6591281	6591281	+	Missense_Mutation	SNP	G	G	T			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr11:6591281G>T	ENST00000527990.2	+	38	12906	c.12906G>T	c.(12904-12906)caG>caT	p.Q4302H	DNHD1_ENST00000254579.6_Missense_Mutation_p.Q4302H			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4302					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCCAAGACCAGCTGTGGGCAA	0.557																																																0													89	88	88					11																	6591281		1964	4165	6129	SO:0001583	missense	144132			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 47", "dynein heavy chain domain 1-like", "coiled-coil domain containing 35"	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.12906G>T	11.37:g.6591281G>T	ENSP00000436180:p.Gln4302His		Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	G	5.424	0.263402	0.10294	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000525883;ENST00000530197	T;T	0.08634	3.07;3.07	4.69	3.77	0.43336	Dynein heavy chain (1);	0.425959	0.23362	N	0.049015	T	0.08447	0.0210	L	0.50919	1.6	0.25206	N	0.990016	B;B;B;B	0.14805	0.011;0.005;0.011;0.011	B;B;B;B	0.15052	0.008;0.002;0.008;0.012	T	0.31251	-0.9950	10	0.15952	T	0.53	-4.8843	10.8944	0.47015	0.0:0.1891:0.8109:0.0	.	3390;570;355;4302	B0I1S4;D3DQT9;Q9NSW8;Q96M86	.;.;.;DNHD1_HUMAN	H	4302;4302;570;570	ENSP00000254579:Q4302H;ENSP00000436180:Q4302H	ENSP00000254579:Q4302H	Q	+	3	2	DNHD1	6547857	0.923000	0.31300	0.967000	0.41034	0.346000	0.29079	1.124000	0.31320	1.192000	0.43071	0.655000	0.94253	CAG		0.557	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		T	6591281	G	T	6591281	3	4	722	1	0	0	0	0	1	0	0	0	4670	962	34	4	13065	4	DNHD1	11	6591281	Missense_Mutation	SNP	G	TCGA-KM-8476-01A-11D-2310-10	5497829	6591281	128415235	54	40549											
MICALCL	84953	mdanderson.org	37	11	12316389	12316389	+	Missense_Mutation	SNP	A	A	C	rs3812754|rs542581403|rs199786165	byFrequency	TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr11:12316389A>C	ENST00000256186.2	+	3	1702	c.1411A>C	c.(1411-1413)Aca>Cca	p.T471P		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	471			T -> P (in dbSNP:rs3812754).		cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)	p.T471delT(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		tcctcctcctACAGCGGGAGG	0.572													A|||	1475	0.294529	0.1331	0.3386	5008	,	,		4509	0.1815		0.5537	False		,,,				2504	0.3313															2	Deletion - In frame(2)	upper_aerodigestive_tract(1)|skin(1)						A	PRO/THR	721,2429		137,447,991	4	4	4		1411	-0.8	0	11	dbSNP_107	4	3523,3545		1029,1465,1040	yes	missense	MICALCL	NM_032867.2	38	1166,1912,2031	CC,CA,AA		49.8444,22.8889,41.5345	benign	471/696	12316389	4244,5974	1575	3534	5109	SO:0001583	missense	84953			BK000463	CCDS41620.1	11p15.3	2005-11-01			ENSG00000133808	ENSG00000133808			25933	protein-coding gene	gene with protein product		612355				12110185	Standard	NM_032867		Approved	FLJ14966	uc001mkg.1	Q6ZW33	OTTHUMG00000165777	ENST00000256186.2:c.1411A>C	11.37:g.12316389A>C	ENSP00000256186:p.Thr471Pro		Q7RTP7|Q96JU6	Missense_Mutation	SNP	ENST00000256186.2	37	CCDS41620.1	766	0.3507326007326007	103	0.20934959349593496	147	0.40607734806629836	106	0.1853146853146853	410	0.5408970976253298	A	0.021	-1.425527	0.01126	0.228889	0.498444	ENSG00000133808	ENST00000256186	T	0.13307	2.6	0.418	-0.835	0.10775	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	P	0.38110	0.618	B	0.25759	0.063	T	0.38045	-0.9679	7	0.23302	T	0.38	.	.	.	.	rs3812754	471	Q6ZW33	MICLK_HUMAN	P	471	ENSP00000256186:T471P	ENSP00000256186:T471P	T	+	1	0	MICALCL	12272965	0.001000	0.12720	0.028000	0.17463	0.023000	0.10783	-0.872000	0.04219	-0.631000	0.05560	-0.661000	0.03856	ACA		0.572	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386164.1	NM_032867		C	12316389	A	C	12316389	3	2	722	1	0	0	0	0	1	0	0	0	9574	391	14	5	1417	5	MICALCL	11	12316389	Missense_Mutation	SNP	A	TCGA-KM-8476-01A-11D-2310-10	5725108	12316389	122690127	55	40550											
SLC43A1	8501	broad.mit.edu	37	11	57268329	57268329	+	Splice_Site	SNP	C	C	T			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr11:57268329C>T	ENST00000278426.3	-	5	744		c.e5-1		SLC43A1_ENST00000528450.1_Splice_Site|SLC43A1_ENST00000533515.1_5'Flank	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						GGAGACAGAGCTGGAAAGGGG	0.562																																																0													104	106	105					11																	57268329		2201	4296	6497	SO:0001630	splice_region_variant	8501			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.389-1G>A	11.37:g.57268329C>T				Splice_Site	SNP	ENST00000278426.3	37	CCDS7958.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.867231	0.51588	.	.	ENSG00000149150	ENST00000278426;ENST00000528450;ENST00000525764;ENST00000533066	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7628	0.78101	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC43A1	57024905	1.000000	0.71417	0.969000	0.41365	0.446000	0.32137	6.810000	0.75216	2.445000	0.82738	0.655000	0.94253	.		0.562	SLC43A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392541.1	NM_003627	Intron	T	57268329	C	T	57268329	5	4	722	1	0	0	0	0	0	0	1	0	14638	811	28	2	1335	2	SLC43A1	11	57268329	Splice_Site	SNP	C	TCGA-KM-8476-01A-11D-2310-10	44951940	57268329	77738187	56	40551											
ARHGEF17	9828	hgsc.bcm.edu	37	11	73073258	73073258	+	Silent	SNP	G	G	T	rs148923147	byFrequency	TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr11:73073258G>T	ENST00000263674.3	+	13	5018	c.4668G>T	c.(4666-4668)gtG>gtT	p.V1556V		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1556					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						TCGGGGCGGTGCCCGGGCTGC	0.741													G|||	51	0.0101837	0.0023	0.0101	5008	,	,		11811	0.0		0.0129	False		,,,				2504	0.0286															0								G		8,4170		0,8,2081	9	9	9		4668	2	1	11	dbSNP_134	9	59,8021		1,57,3982	no	coding-synonymous	ARHGEF17	NM_014786.3		1,65,6063	TT,TG,GG		0.7302,0.1915,0.5466		1556/2064	73073258	67,12191	2089	4040	6129	SO:0001819	synonymous_variant	9828			AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"Rho guanine nucleotide exchange factors"	21726	protein-coding gene	gene with protein product	"Rho-specific guanine-nucleotide exchange factor 164 kDa", "tumor endothelial marker 4"					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.4668G>T	11.37:g.73073258G>T			B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Silent	SNP	ENST00000263674.3	37	CCDS8221.1																																																																																				0.741	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		T	73073258	G	T	73073258	2	4	722	1	0	0	0	0	0	0	0	1	900	1306	46	4		4	ARHGEF17	11	73073258	Silent	SNP	G	TCGA-KM-8476-01A-11D-2310-10	15804929	73073258	61933258	57	40552											
INTS4	92105	mdanderson.org	37	11	77614592	77614592	+	Silent	SNP	C	C	T	rs565544206	byFrequency	TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr11:77614592C>T	ENST00000534064.1	-	17	2125	c.2091G>A	c.(2089-2091)gcG>gcA	p.A697A	AAMDC_ENST00000532481.1_Intron|INTS4_ENST00000535943.1_Silent_p.A72A	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	697					snRNA processing (GO:0016180)	integrator complex (GO:0032039)		p.A697A(1)	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)			TTACCTGTTTCGCTGCTGCTG	0.483													C|||	7	0.00139776	0.0045	0.0	5008	,	,		22683	0.001		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	prostate(1)											63	54	57					11																	77614592		2200	4292	6492	SO:0001819	synonymous_variant	92105			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.2091G>A	11.37:g.77614592C>T			Q2YD62|Q6PJG4|Q7Z4E7|Q96G32|Q96GA1|Q9BRC0	Silent	SNP	ENST00000534064.1	37	CCDS31644.1																																																																																				0.483	INTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390927.1	NM_033547		T	77614592	C	T	77614592	2	4	722	1	0	0	0	0	0	0	0	1	7782	871	31	1		1	INTS4	11	77614592	Silent	SNP	C	TCGA-KM-8476-01A-11D-2310-10	4541334	77614592	57391924	58	40553											
TRIM49	57093	mdanderson.org	37	11	89531533	89531533	+	Missense_Mutation	SNP	G	G	T	rs146898780	byFrequency	TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr11:89531533G>T	ENST00000329758.1	-	8	1452	c.1124C>A	c.(1123-1125)gCg>gAg	p.A375E	TRIM49_ENST00000532501.2_Missense_Mutation_p.A298E	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN	tripartite motif containing 49	375	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				AAAGAGTCCCGCCTTTCCATC	0.448													t|||	168	0.0335463	0.0507	0.0504	5008	,	,		18300	0.0446		0.0109	False		,,,				2504	0.0102															0													78	85	83					11																	89531533		2129	4278	6407	SO:0001583	missense	57093			AB037682	CCDS8287.1	11p11.12-q12	2012-05-21	2011-01-25	2004-11-17	ENSG00000168930	ENSG00000168930		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	13431	protein-coding gene	gene with protein product		606124	"ring finger protein 18", "tripartite motif-containing 49"	RNF18		11018261	Standard	NM_020358		Approved	TRIM49A	uc001pdb.3	P0CI25		ENST00000329758.1:c.1124C>A	11.37:g.89531533G>T	ENSP00000327604:p.Ala375Glu		A0AVR7|A0AVR9|Q6DJV1|Q9NS80	Missense_Mutation	SNP	ENST00000329758.1	37	CCDS8287.1	.	.	.	.	.	.	.	.	.	.	T	0.003	-2.430515	0.00184	.	.	ENSG00000168930	ENST00000329758;ENST00000532501	T	0.68331	-0.32	0.812	0.812	0.18744	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.24160	0.0585	N	0.00332	-1.63	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25813	-1.0121	8	.	.	.	.	3.6708	0.08273	0.0:0.0:0.4123:0.5877	.	375	P0CI25	TRI49_HUMAN	E	375;298	ENSP00000327604:A375E	.	A	-	2	0	TRIM49	89171181	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	0.249000	0.18216	-0.171000	0.10797	-1.228000	0.01579	GCG		0.448	TRIM49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395435.1	NM_020358		T	89531533	G	T	89531533	3	4	722	1	0	0	0	0	1	0	0	0	16529	1087	38	4	238	4	TRIM49	11	89531533	Missense_Mutation	SNP	G	TCGA-KM-8476-01A-11D-2310-10	11916941	89531533	45474983	59	40554											
PGR	5241	ucsc.edu	37	11	100999187	100999187	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr11:100999187C>T	ENST00000325455.5	-	1	2068	c.615G>A	c.(613-615)tgG>tgA	p.W205*	PGR_ENST00000534013.1_Intron|PGR_ENST00000263463.5_Nonsense_Mutation_p.W205*	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	205	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)	p.W205C(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)	GGGCCCCGGACCAGTGAGGGC	0.687																																					Pancreas(124;2271 2354 21954 22882)											1	Substitution - Missense(1)	lung(1)											7	9	9					11																	100999187		2081	4166	6247	SO:0001587	stop_gained	5241			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.615G>A	11.37:g.100999187C>T	ENSP00000325120:p.Trp205*		A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Nonsense_Mutation	SNP	ENST00000325455.5	37	CCDS8310.1	.	.	.	.	.	.	.	.	.	.	c	16.97	3.267528	0.59540	.	.	ENSG00000082175	ENST00000325455;ENST00000263463;ENST00000537623	.	.	.	4.44	3.53	0.40419	.	0.717914	0.12600	N	0.454809	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.4107	0.21690	0.0:0.7115:0.1883:0.1003	.	.	.	.	X	205	.	ENSP00000263463:W205X	W	-	3	0	PGR	100504397	0.714000	0.27936	0.601000	0.28877	0.101000	0.19017	1.009000	0.29886	0.864000	0.35578	-0.217000	0.12591	TGG		0.687	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1			T	100999187	C	T	100999187	4	4	722	1	0	0	0	0	0	1	0	0	11807	508	18	2	2218	2	PGR	11	100999187	Nonsense_Mutation	SNP	C	TCGA-KM-8476-01A-11D-2310-10	11467654	100999187	34007329	60	40555											
CASP4	837	broad.mit.edu	37	11	104825546	104825546	+	Missense_Mutation	SNP	T	T	C			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr11:104825546T>C	ENST00000444739.2	-	2	1100	c.190A>G	c.(190-192)Aag>Gag	p.K64E	CASP4_ENST00000393150.3_Missense_Mutation_p.K8E|CASP4_ENST00000531333.1_5'UTR	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	64	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|IPAF inflammasome complex (GO:0072557)|membrane (GO:0016020)|mitochondrion (GO:0005739)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activity (GO:0004197)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		ATACGTTGCTTCTCTTGCATA	0.363																																																0													213	199	204					11																	104825546		2202	4299	6501	SO:0001583	missense	837			U25804	CCDS8327.1, CCDS41704.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000196954	ENSG00000196954		"Caspases"	1505	protein-coding gene	gene with protein product		602664	"caspase 4, apoptosis-related cysteine protease"			7797510, 9250871	Standard	NM_001225		Approved	ICE(rel)II, ICH-2, TX	uc001pid.1	P49662	OTTHUMG00000166078	ENST00000444739.2:c.190A>G	11.37:g.104825546T>C	ENSP00000388566:p.Lys64Glu		A2NHL8|A2NHM0	Missense_Mutation	SNP	ENST00000444739.2	37	CCDS8327.1	.	.	.	.	.	.	.	.	.	.	T	13.61	2.288516	0.40494	.	.	ENSG00000196954	ENST00000444739;ENST00000393150;ENST00000417440	T;T;T	0.29397	1.57;4.16;1.57	3.46	2.24	0.28232	DEATH-like (2);Caspase Recruitment (3);	0.171234	0.51477	D	0.000082	T	0.48132	0.1483	M	0.71871	2.18	0.09310	N	1	P;D;D	0.69078	0.943;0.997;0.975	P;D;D	0.71414	0.672;0.973;0.933	T	0.29427	-1.0012	10	0.72032	D	0.01	.	7.8029	0.29185	0.0:0.0:0.2125:0.7875	.	64;64;64	B4DJH5;B4E2D2;P49662	.;.;CASP4_HUMAN	E	64;8;64	ENSP00000388566:K64E;ENSP00000376857:K8E;ENSP00000401673:K64E	ENSP00000376857:K8E	K	-	1	0	CASP4	104330756	0.040000	0.19996	0.001000	0.08648	0.002000	0.02628	1.676000	0.37565	0.457000	0.26962	0.459000	0.35465	AAG		0.363	CASP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387751.1	NM_001225		C	104825546	T	C	104825546	3	2	722	1	0	0	0	0	1	0	0	0	2675	1792	62	3	971	3	CASP4	11	104825546	Missense_Mutation	SNP	T	TCGA-KM-8476-01A-11D-2310-10	3826359	104825546	30180970	61	40556											
HSPA8	3312	mdanderson.org	37	11	122931403	122931403	+	Silent	SNP	G	G	A			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr11:122931403G>A	ENST00000532636.1	-	3	428	c.309C>T	c.(307-309)gtC>gtT	p.V103V	HSPA8_ENST00000533540.1_Intron|HSPA8_ENST00000453788.2_Silent_p.V103V|SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000534624.1_Silent_p.V103V|HSPA8_ENST00000526862.1_5'Flank|HSPA8_ENST00000227378.3_Silent_p.V103V|SNORD14D_ENST00000384390.1_RNA|SNORD14E_ENST00000364009.1_RNA|HSPA8_ENST00000526110.1_Silent_p.V103V|HSPA8_ENST00000534319.1_5'Flank			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	103					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)		ATTCTACTTGGACCTTGGGCC	0.463																																					Colon(21;486 594 5900 6733 14272)											0													85	84	84					11																	122931403		2202	4299	6501	SO:0001819	synonymous_variant	3312			Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"Heat shock proteins / HSP70"	5241	protein-coding gene	gene with protein product		600816	"heat shock 70kD protein 8"	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.309C>T	11.37:g.122931403G>A			Q9H3R6	Silent	SNP	ENST00000532636.1	37	CCDS8440.1																																																																																				0.463	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1			A	122931403	G	A	122931403	2	1	722	1	0	0	0	0	0	0	0	1	7418	1161	41	2		2	HSPA8	11	122931403	Silent	SNP	G	TCGA-KM-8476-01A-11D-2310-10	18105857	122931403	12075113	62	40557											
GALNT8	26290	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	12	4854614	4854614	+	Missense_Mutation	SNP	C	C	T	rs202166380	byFrequency	TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr12:4854614C>T	ENST00000252318.2	+	5	1217	c.880C>T	c.(880-882)Cgg>Tgg	p.R294W		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	294	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)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						AATCTTGGCTCGGATTCAGGA	0.483													C|||	3	0.000599042	0.0008	0.0	5008	,	,		23971	0.001		0.0	False		,,,				2504	0.001				Colon(108;631 1558 7270 20097 39846)											0								C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	113	92	99		880	-1.5	0.9	12		99	0,8600		0,0,4300	no	missense	GALNT8	NM_017417.1	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	294/638	4854614	1,13005	2203	4300	6503	SO:0001583	missense	26290			AJ271385	CCDS8533.1	12p13.32	2014-03-13	2014-03-13		ENSG00000130035	ENSG00000130035	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4130	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 8"	606250	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)"			10767557	Standard	NM_017417		Approved	GALNAC-T8	uc001qne.1	Q9NY28	OTTHUMG00000166188	ENST00000252318.2:c.880C>T	12.37:g.4854614C>T	ENSP00000252318:p.Arg294Trp		B2RU02	Missense_Mutation	SNP	ENST00000252318.2	37	CCDS8533.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	17.19	3.326160	0.60743	2.27E-4	0.0	ENSG00000130035	ENST00000252318	T	0.62105	0.05	4.11	-1.5	0.08691	Glycosyl transferase, family 2 (1);	0.081559	0.48767	N	0.000161	T	0.71459	0.3342	M	0.83953	2.67	0.26121	N	0.980544	D	0.89917	1.0	D	0.85130	0.997	T	0.62704	-0.6798	10	0.87932	D	0	.	1.1486	0.01781	0.425:0.2546:0.1392:0.1812	.	294	Q9NY28	GALT8_HUMAN	W	294	ENSP00000252318:R294W	ENSP00000252318:R294W	R	+	1	2	GALNT8	4724875	0.027000	0.19231	0.903000	0.35520	0.955000	0.61496	-0.254000	0.08781	-0.573000	0.05998	0.491000	0.48974	CGG		0.483	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388277.2	NM_017417		T	4854614	C	T	4854614	3	4	722	1	0	0	0	0	1	0	0	0	6221	875	31	1	898	1	GALNT8	12	4854614	Missense_Mutation	SNP	C	TCGA-KM-8476-01A-11D-2310-10		4854614	128997281	63	40558											
PRB2	653247	mdanderson.org	37	12	11546262	11546262	+	Silent	SNP	G	G	A	rs199808121	byFrequency	TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr12:11546262G>A	ENST00000389362.4	-	3	785	c.750C>T	c.(748-750)ggC>ggT	p.G250G	PRB2_ENST00000545829.1_5'Flank|PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	250	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGGGCTGGTTGCCTCCTTGTG	0.607																																																0													111	144	133					12																	11546262		2188	4276	6464	SO:0001819	synonymous_variant	653247			K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.750C>T	12.37:g.11546262G>A			O00599|P02811|P04281	Silent	SNP	ENST00000389362.4	37	CCDS41757.2																																																																																				0.607	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		A	11546262	G	A	11546262	2	1	722	1	0	0	0	0	0	0	0	1	12448	1306	46	2		2	PRB2	12	11546262	Silent	SNP	G	TCGA-KM-8476-01A-11D-2310-10	6691648	11546262	122305633	64	40559											
EIF4B	1975	broad.mit.edu	37	12	53416356	53416356	+	Silent	SNP	T	T	C			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr12:53416356T>C	ENST00000262056.9	+	6	938	c.612T>C	c.(610-612)gcT>gcC	p.A204A	EIF4B_ENST00000416762.3_Silent_p.A165A|EIF4B_ENST00000420463.3_Silent_p.A204A|RP11-983P16.4_ENST00000552905.1_RNA	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	204	Arg-rich.|Asp-rich.				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						CTCGTCCTGCTACAGACAGCT	0.433																																																0													105	90	94					12																	53416356		1879	4110	5989	SO:0001819	synonymous_variant	1975			X55733	CCDS41788.1, CCDS73474.1	12q13.13	2013-02-12			ENSG00000063046	ENSG00000063046		"RNA binding motif (RRM) containing"	3285	protein-coding gene	gene with protein product		603928					Standard	XM_005268709		Approved		uc001sbh.4	P23588	OTTHUMG00000169570	ENST00000262056.9:c.612T>C	12.37:g.53416356T>C			Q4G0E3|Q53HQ2|Q6GPH5|Q6IB46|Q8WYK5	Silent	SNP	ENST00000262056.9	37	CCDS41788.1																																																																																				0.433	EIF4B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404852.2	NM_001417		C	53416356	T	C	53416356	2	2	722	1	0	0	0	0	0	0	0	1	5029	1509	53	3		3	EIF4B	12	53416356	Silent	SNP	T	TCGA-KM-8476-01A-11D-2310-10	41870094	53416356	80435539	65	40560											
OR6C74	254783	mdanderson.org	37	12	55641157	55641157	+	Missense_Mutation	SNP	T	T	C			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr12:55641157T>C	ENST00000343870.4	+	1	176	c.86T>C	c.(85-87)cTt>cCt	p.L29P		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	29						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						TTTCTTCTCCTTTTTTTCACC	0.378																																																0													183	177	179					12																	55641157		2203	4300	6503	SO:0001583	missense	254783				CCDS31816.1	12q13.13	2012-08-09			ENSG00000197706	ENSG00000197706		"GPCR / Class A : Olfactory receptors"	31303	protein-coding gene	gene with protein product							Standard	NM_001005490		Approved		uc010spg.2	A6NCV1	OTTHUMG00000165162	ENST00000343870.4:c.86T>C	12.37:g.55641157T>C	ENSP00000342836:p.Leu29Pro			Missense_Mutation	SNP	ENST00000343870.4	37	CCDS31816.1	.	.	.	.	.	.	.	.	.	.	t	12.35	1.911727	0.33721	.	.	ENSG00000197706	ENST00000343870	T	0.00580	6.43	4.83	4.83	0.62350	.	0.000000	0.43747	D	0.000537	T	0.03739	0.0106	M	0.90759	3.145	0.30755	N	0.744759	D	0.89917	1.0	D	0.79784	0.993	T	0.00763	-1.1576	10	0.72032	D	0.01	.	14.4929	0.67665	0.0:0.0:0.0:1.0	.	29	A6NCV1	O6C74_HUMAN	P	29	ENSP00000342836:L29P	ENSP00000342836:L29P	L	+	2	0	OR6C74	53927424	0.629000	0.27146	0.074000	0.20217	0.175000	0.22909	5.237000	0.65360	2.139000	0.66308	0.450000	0.29827	CTT		0.378	OR6C74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382312.1			C	55641157	T	C	55641157	3	2	722	1	0	0	0	0	1	0	0	0	11200	1609	56	3	88	3	OR6C74	12	55641157	Missense_Mutation	SNP	T	TCGA-KM-8476-01A-11D-2310-10	2224801	55641157	78210738	66	40561											
ACACB	32	broad.mit.edu	37	12	109577282	109577282	+	Silent	SNP	G	G	A			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr12:109577282G>A	ENST00000338432.7	+	2	191	c.72G>A	c.(70-72)ggG>ggA	p.G24G	ACACB_ENST00000377848.3_Silent_p.G24G|ACACB_ENST00000377854.5_Silent_p.G24G			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	24					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)	AAATCTGGGGGAAAATGACGG	0.463																																																0													95	95	95					12																	109577282		2203	4300	6503	SO:0001819	synonymous_variant	32			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 2"	601557	"acetyl-Coenzyme A carboxylase beta"			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.72G>A	12.37:g.109577282G>A			A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Silent	SNP	ENST00000338432.7	37	CCDS31898.1																																																																																				0.463	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		A	109577282	G	A	109577282	2	1	722	1	0	0	0	0	0	0	0	1	107	1161	41	2		2	ACACB	12	109577282	Silent	SNP	G	TCGA-KM-8476-01A-11D-2310-10	53936125	109577282	24274613	67	40562											
C12orf51	283450	ucsc.edu	37	12	112607414	112607414	+	Missense_Mutation	SNP	T	T	C			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr12:112607414T>C	ENST00000430131.2	-	69	11980	c.10835A>G	c.(10834-10836)cAg>cGg	p.Q3612R	HECTD4_ENST00000377560.5_Missense_Mutation_p.Q3862R|HECTD4_ENST00000550722.1_Missense_Mutation_p.Q3888R			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3612					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)										TGAGGCCAGCTGCCTGGCAGC	0.597																																																0													46	52	50					12																	112607414		2047	4188	6235	SO:0001583	missense	283450			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.10835A>G	12.37:g.112607414T>C	ENSP00000404379:p.Gln3612Arg		L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37		.	.	.	.	.	.	.	.	.	.	T	27.5	4.835640	0.91117	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722;ENST00000547085	T;T;T	0.50813	0.73;0.73;0.73	5.88	5.88	0.94601	.	.	.	.	.	T	0.52677	0.1749	N	0.19112	0.55	0.53005	D	0.999965	P	0.45126	0.851	P	0.58391	0.838	T	0.57585	-0.7786	9	0.72032	D	0.01	.	16.2794	0.82664	0.0:0.0:0.0:1.0	.	3612	Q9Y4D8	K0614_HUMAN	R	3862;3612;3888;77	ENSP00000366783:Q3862R;ENSP00000404379:Q3612R;ENSP00000449784:Q3888R	ENSP00000366783:Q3862R	Q	-	2	0	C12orf51	111091797	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.509000	0.81698	2.251000	0.74343	0.482000	0.46254	CAG		0.597	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		C	112607414	T	C	112607414	3	2	722	1	0	0	0	0	1	0	0	0	1698	1580	55	3	1183	3	C12orf51	12	112607414	Missense_Mutation	SNP	T	TCGA-KM-8476-01A-11D-2310-10	3030132	112607414	21244481	68	40563											
TMEM132B	114795	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	12	126137027	126137027	+	Missense_Mutation	SNP	C	C	T			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr12:126137027C>T	ENST00000299308.3	+	8	1948	c.1940C>T	c.(1939-1941)aCg>aTg	p.T647M	TMEM132B_ENST00000535886.1_Missense_Mutation_p.T159M	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	647						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)		GCTGAGAAGACGGTGATTGTC	0.567																																																0													32	34	34					12																	126137027		2073	4228	6301	SO:0001583	missense	114795			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.1940C>T	12.37:g.126137027C>T	ENSP00000299308:p.Thr647Met		A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.988608	0.74589	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.54866	0.55;0.55	5.34	5.34	0.76211	.	0.000000	0.64402	D	0.000002	T	0.69260	0.3091	L	0.54965	1.715	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.69146	-0.5222	10	0.49607	T	0.09	.	19.0468	0.93022	0.0:1.0:0.0:0.0	.	647	Q14DG7	T132B_HUMAN	M	647;159	ENSP00000299308:T647M;ENSP00000440436:T159M	ENSP00000299308:T647M	T	+	2	0	TMEM132B	124702980	1.000000	0.71417	0.947000	0.38551	0.510000	0.34073	4.569000	0.60865	2.471000	0.83476	0.655000	0.94253	ACG		0.567	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		T	126137027	C	T	126137027	3	4	722	1	0	0	0	0	1	0	0	0	16051	536	19	1	1970	1	TMEM132B	12	126137027	Missense_Mutation	SNP	C	TCGA-KM-8476-01A-11D-2310-10	13529613	126137027	7714868	69	40564											
HEATR5A	25938	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	14	31844040	31844040	+	Nonsense_Mutation	SNP	G	G	A	rs376522134		TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr14:31844040G>A	ENST00000389961.3	-	11	1824	c.1825C>T	c.(1825-1827)Cga>Tga	p.R609*	HEATR5A_ENST00000439348.1_Nonsense_Mutation_p.R609*|HEATR5A_ENST00000439727.1_Nonsense_Mutation_p.R322*|HEATR5A_ENST00000543095.2_Nonsense_Mutation_p.R615*|HEATR5A_ENST00000404677.3_Nonsense_Mutation_p.R615*			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	609										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		GCACCAGCTCGTCCTTCCAGG	0.443																																																0								G	stop/ARG	0,3952		0,0,1976	61	65	64		1843	2.8	1	14		64	1,8323		0,1,4161	no	stop-gained	HEATR5A	NM_015473.3		0,1,6137	AA,AG,GG		0.012,0.0,0.0081		615/2047	31844040	1,12275	1976	4162	6138	SO:0001587	stop_gained	25938			AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 125"	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.1825C>T	14.37:g.31844040G>A	ENSP00000374611:p.Arg609*		Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Nonsense_Mutation	SNP	ENST00000389961.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.474218|7.474218	0.98306|0.98306	0.0|0.0	1.2E-4|1.2E-4	ENSG00000129493|ENSG00000129493	ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095;ENST00000404677|ENST00000550366	.|.	.|.	.|.	5.75|5.75	2.84|2.84	0.33178|0.33178	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.50137	.|0.1598	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.58070	.|-0.7701	.|3	0.02654|.	T|.	1|.	.|.	8.9064|8.9064	0.35526|0.35526	0.131:0.0:0.7483:0.1206|0.131:0.0:0.7483:0.1206	.|.	.|.	.|.	.|.	X|M	609;609;322;615;615|257	.|.	ENSP00000374611:R609X|.	R|T	-|-	1|2	2|0	HEATR5A|HEATR5A	30913791|30913791	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.887000|7.887000	0.87295|0.87295	0.734000|0.734000	0.32515|0.32515	0.650000|0.650000	0.86243|0.86243	CGA|ACG		0.443	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015473		A	31844040	G	A	31844040	4	1	722	1	0	0	0	0	0	1	0	0	7033	1153	40	1	4397	1	HEATR5A	14	31844040	Nonsense_Mutation	SNP	G	TCGA-KM-8476-01A-11D-2310-10		31844040	75505500	70	40565											
C14orf73	91828	mdanderson.org	37	14	103568981	103568981	+	Silent	SNP	A	A	C	rs77071436	byFrequency	TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr14:103568981A>C	ENST00000380069.3	+	2	997	c.921A>C	c.(919-921)ccA>ccC	p.P307P		NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN	exocyst complex component 3-like 4	307					exocytosis (GO:0006887)	exocyst (GO:0000145)				cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						CCGGCTTCCCAGCGTGGGAGG	0.706													A|||	1073	0.214257	0.1006	0.1931	5008	,	,		11366	0.2579		0.2396	False		,,,				2504	0.3119															0								A		378,3714		22,334,1690	6	9	8		921	-8.7	0	14	dbSNP_131	8	1547,6535		144,1259,2638	no	coding-synonymous	EXOC3L4	NM_001077594.1		166,1593,4328	CC,CA,AA		19.1413,9.2375,15.8124		307/723	103568981	1925,10249	2046	4041	6087	SO:0001819	synonymous_variant	91828			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.921A>C	14.37:g.103568981A>C			Q14CR2	Silent	SNP	ENST00000380069.3	37	CCDS32163.1																																																																																				0.706	EXOC3L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415663.1	XM_941093		C	103568981	A	C	103568981	2	2	722	1	0	0	0	0	0	0	0	1	1781	175	7	5		5	C14orf73	14	103568981	Silent	SNP	A	TCGA-KM-8476-01A-11D-2310-10	71724941	103568981	3780559	71	40566											
AHNAK2	113146	mdanderson.org	37	14	105416223	105416223	+	Silent	SNP	G	G	A	rs141406015	byFrequency	TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr14:105416223G>A	ENST00000333244.5	-	7	5684	c.5565C>T	c.(5563-5565)gcC>gcT	p.A1855A	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1855						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)			GGCTCACTTCGGCCTCCACCT	0.617													.|||	198	0.0395367	0.0983	0.0101	5008	,	,		17388	0.0089		0.003	False		,,,				2504	0.0501															0													134	170	158					14																	105416223		1938	4106	6044	SO:0001819	synonymous_variant	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.5565C>T	14.37:g.105416223G>A			Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																				0.617	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		A	105416223	G	A	105416223	2	1	722	1	0	0	0	0	0	0	0	1	415	1103	39	1		1	AHNAK2	14	105416223	Silent	SNP	G	TCGA-KM-8476-01A-11D-2310-10	1847242	105416223	1933317	72	40567											
MYO5A	4644	broad.mit.edu;mdanderson.org	37	15	52613683	52613683	+	Silent	SNP	A	A	G	rs368705747		TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr15:52613683A>G	ENST00000399231.3	-	37	4992	c.4749T>C	c.(4747-4749)tcT>tcC	p.S1583S	MYO5A_ENST00000356338.6_Silent_p.S1556S|MYO5A_ENST00000358212.6_Silent_p.S1608S|MYO5A_ENST00000553916.1_Silent_p.S1581S|MYO5A_ENST00000399233.2_Silent_p.S1580S	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1583	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				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)		CATTCTGGCGAGATGTGTTGT	0.458																																																0								A	,	0,4092		0,0,2046	142	141	141		4749,4668	2.6	1	15		141	1,8413		0,1,4206	no	coding-synonymous,coding-synonymous	MYO5A	NM_000259.3,NM_001142495.1	,	0,1,6252	GG,GA,AA		0.0119,0.0,0.0080	,	1583/1856,1556/1829	52613683	1,12505	2046	4207	6253	SO:0001819	synonymous_variant	4644				CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"Myosins / Myosin superfamily : Class V"	7602	protein-coding gene	gene with protein product	"myosin, heavy polypeptide kinase", "myosin heavy chain 12", "myoxin", "myosin V"	160777	"myosin VA (heavy polypeptide 12, myoxin)"	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.4749T>C	15.37:g.52613683A>G			A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Silent	SNP	ENST00000399231.3	37	CCDS42037.1																																																																																				0.458	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		G	52613683	A	G	52613683	2	3	722	1	0	0	0	0	0	0	0	1	10080	291	11	3		3	MYO5A	15	52613683	Silent	SNP	A	TCGA-KM-8476-01A-11D-2310-10		52613683	49917709	73	40568											
SLC24A1	9187	broad.mit.edu;mdanderson.org	37	15	65946296	65946296	+	Missense_Mutation	SNP	C	C	T			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr15:65946296C>T	ENST00000261892.6	+	10	3466	c.3179C>T	c.(3178-3180)gCg>gTg	p.A1060V	SLC24A1_ENST00000537259.1_Intron|SLC24A1_ENST00000399033.4_Missense_Mutation_p.A1030V|SLC24A1_ENST00000544319.2_Missense_Mutation_p.A946V|SLC24A1_ENST00000449142.2_3'UTR|SLC24A1_ENST00000546330.1_Missense_Mutation_p.A1042V|SLC24A1_ENST00000339868.6_Missense_Mutation_p.A1042V	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	1060					calcium ion transport (GO:0006816)|ion transport (GO:0006811)|phototransduction, visible light (GO:0007603)|response to light intensity (GO:0009642)|rhodopsin mediated signaling pathway (GO:0016056)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)	p.A1060V(1)		breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						TCTTCAATTGCGTCATGTAAA	0.383																																																1	Substitution - Missense(1)	large_intestine(1)											288	268	274					15																	65946296		1952	4142	6094	SO:0001583	missense	9187			AF062922	CCDS45284.1, CCDS73742.1, CCDS73743.1, CCDS73744.1	15q22.31	2014-01-28			ENSG00000074621	ENSG00000074621		"Solute carriers"	10975	protein-coding gene	gene with protein product		603617				9856482	Standard	NM_004727		Approved	NCKX1, NCKX, RODX, KIAA0702, HsT17412, CSNB1D	uc010ujf.2	O60721	OTTHUMG00000167960	ENST00000261892.6:c.3179C>T	15.37:g.65946296C>T	ENSP00000261892:p.Ala1060Val		O43485|O75184|Q17RM9	Missense_Mutation	SNP	ENST00000261892.6	37	CCDS45284.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.480885	0.84747	.	.	ENSG00000074621	ENST00000261892;ENST00000339868;ENST00000544319;ENST00000399033;ENST00000546330	T;T;T;T;T	0.62105	0.05;0.05;0.05;0.05;0.05	5.51	5.51	0.81932	Sodium/calcium exchanger membrane region (1);	0.115247	0.64402	D	0.000014	T	0.77883	0.4197	M	0.73753	2.245	0.80722	D	1	D;D;D;D	0.76494	0.999;0.985;0.973;0.999	D;D;D;D	0.79108	0.983;0.915;0.919;0.992	T	0.72956	-0.4134	10	0.16896	T	0.51	.	18.3861	0.90466	0.0:1.0:0.0:0.0	.	387;1042;1030;1060	B4DUG1;O60721-2;Q17RM9;O60721	.;.;.;NCKX1_HUMAN	V	1060;1042;946;1030;1042	ENSP00000261892:A1060V;ENSP00000341837:A1042V;ENSP00000445163:A946V;ENSP00000381991:A1030V;ENSP00000439190:A1042V	ENSP00000261892:A1060V	A	+	2	0	SLC24A1	63733350	1.000000	0.71417	0.210000	0.23637	0.748000	0.42578	7.818000	0.86416	2.572000	0.86782	0.585000	0.79938	GCG		0.383	SLC24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397304.1	NM_004727		T	65946296	C	T	65946296	3	4	722	1	0	0	0	0	1	0	0	0	14471	768	27	1	1319	1	SLC24A1	15	65946296	Missense_Mutation	SNP	C	TCGA-KM-8476-01A-11D-2310-10	13332613	65946296	36585096	74	40569											
SH3GL3	6457	broad.mit.edu	37	15	84286962	84286962	+	Missense_Mutation	SNP	T	T	C			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr15:84286962T>C	ENST00000427482.2	+	9	1273	c.967T>C	c.(967-969)Tat>Cat	p.Y323H	SH3GL3_ENST00000535412.1_3'UTR|AC087738.1_ENST00000411248.1_RNA|SH3GL3_ENST00000434347.1_Missense_Mutation_p.Y331H|SH3GL3_ENST00000564054.1_3'UTR|SH3GL3_ENST00000324537.5_Missense_Mutation_p.Y331H	NM_003027.3	NP_003018.3	Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	323	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						TGAAAACTGGTATGAAGGAAT	0.398																																																0													116	106	110					15																	84286962		2203	4300	6503	SO:0001583	missense	6457			AF036271	CCDS10325.2, CCDS73772.1	15q24	2006-11-24			ENSG00000140600	ENSG00000140600			10832	protein-coding gene	gene with protein product		603362				9169142	Standard	NR_026799		Approved	SH3D2C, SH3P13, CNSA3, EEN-B2, HsT19371	uc002bjw.3	Q99963	OTTHUMG00000147361	ENST00000427482.2:c.967T>C	15.37:g.84286962T>C	ENSP00000391372:p.Tyr323His		O43553|O43554	Missense_Mutation	SNP	ENST00000427482.2	37	CCDS10325.2	.	.	.	.	.	.	.	.	.	.	T	25.2	4.609438	0.87258	.	.	ENSG00000140600	ENST00000427482;ENST00000324537;ENST00000434347	T;T;T	0.31769	1.48;1.48;1.48	5.54	5.54	0.83059	Src homology-3 domain (5);	0.181657	0.51477	D	0.000100	T	0.63070	0.2480	M	0.91354	3.2	0.80722	D	1	D;D	0.71674	0.998;0.978	D;P	0.69479	0.964;0.707	T	0.72747	-0.4200	10	0.87932	D	0	-17.6148	14.8615	0.70384	0.0:0.0:0.0:1.0	.	323;331	Q99963;Q99963-3	SH3G3_HUMAN;.	H	323;331;331	ENSP00000391372:Y323H;ENSP00000320092:Y331H;ENSP00000397871:Y331H	ENSP00000320092:Y331H	Y	+	1	0	SH3GL3	82077966	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.590000	0.82653	2.101000	0.63845	0.460000	0.39030	TAT		0.398	SH3GL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347797.1	NM_003027		C	84286962	T	C	84286962	3	2	722	1	0	0	0	0	1	0	0	0	14258	1638	57	3	1001	3	SH3GL3	15	84286962	Missense_Mutation	SNP	T	TCGA-KM-8476-01A-11D-2310-10	18340666	84286962	18244430	75	40570											
SOX8	30812	mdanderson.org	37	16	1034954	1034954	+	Silent	SNP	T	T	C	rs11542178	byFrequency	TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr16:1034954T>C	ENST00000293894.3	+	3	1024	c.909T>C	c.(907-909)taT>taC	p.Y303Y		NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	303					adipose tissue development (GO:0060612)|astrocyte fate commitment (GO:0060018)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|enteric nervous system development (GO:0048484)|fat cell differentiation (GO:0045444)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|oligodendrocyte differentiation (GO:0048709)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of gliogenesis (GO:0014015)|positive regulation of kidney development (GO:0090184)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone levels (GO:0010817)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|ureter morphogenesis (GO:0072197)	cytoplasm (GO:0005737)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10		Hepatocellular(780;0.00308)				GCCAGGCCTATGGGGGCGCCT	0.751													C|||	1718	0.343051	0.5772	0.2867	5008	,	,		9222	0.1052		0.3091	False		,,,				2504	0.3466															0								C		2425,1917		709,1007,455	9	11	11		909	-6.6	0	16	dbSNP_120	11	2368,6146		350,1668,2239	no	coding-synonymous	SOX8	NM_014587.3		1059,2675,2694	CC,CT,TT		27.813,44.1502,37.2822		303/447	1034954	4793,8063	2171	4257	6428	SO:0001819	synonymous_variant	30812			AF164104	CCDS10428.1	16p13.3	2008-05-23			ENSG00000005513	ENSG00000005513		"SRY (sex determining region Y)-boxes"	11203	protein-coding gene	gene with protein product		605923				10662550, 10684944	Standard	NM_014587		Approved		uc002ckn.3	P57073	OTTHUMG00000122101	ENST00000293894.3:c.909T>C	16.37:g.1034954T>C			Q9NZW2	Silent	SNP	ENST00000293894.3	37	CCDS10428.1																																																																																				0.751	SOX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242867.1			C	1034954	T	C	1034954	2	2	722	1	0	0	0	0	0	0	0	1	14963	1471	51	3		3	SOX8	16	1034954	Silent	SNP	T	TCGA-KM-8476-01A-11D-2310-10		1034954	89319799	76	40571											
XYLT1	64131	hgsc.bcm.edu	37	16	17202636	17202636	+	Silent	SNP	G	G	A			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr16:17202636G>A	ENST00000261381.6	-	12	2880	c.2796C>T	c.(2794-2796)acC>acT	p.T932T		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	932					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						TCTGGCTGCAGGTCTGCATGA	0.667																																																0													34	30	31					16																	17202636		2197	4300	6497	SO:0001819	synonymous_variant	64131			AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	15516	protein-coding gene	gene with protein product	"protein xylosyltransferase 1"	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.2796C>T	16.37:g.17202636G>A			Q9H1B6	Silent	SNP	ENST00000261381.6	37	CCDS10569.1																																																																																				0.667	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		A	17202636	G	A	17202636	2	1	722	1	0	0	0	0	0	0	0	1	17468	987	35	2		2	XYLT1	16	17202636	Silent	SNP	G	TCGA-KM-8476-01A-11D-2310-10	16167682	17202636	73152117	77	40572											
IL4R	3566	broad.mit.edu	37	16	27374339	27374339	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr16:27374339C>T	ENST00000395762.2	+	11	1925	c.1666C>T	c.(1666-1668)Cga>Tga	p.R556*	IL4R_ENST00000380922.3_Nonsense_Mutation_p.R541*|IL4R_ENST00000543915.2_Nonsense_Mutation_p.R556*|IL4R_ENST00000170630.2_Nonsense_Mutation_p.R556*	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	556	Required for IRS1 activation and IL4- induced cell growth.				defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						GATCCTCCGCCGAAATGTCCT	0.637																																																0													29	33	31					16																	27374339		2196	4300	6496	SO:0001587	stop_gained	3566			X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"Interleukins and interleukin receptors", "CD molecules"	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.1666C>T	16.37:g.27374339C>T	ENSP00000379111:p.Arg556*		B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Nonsense_Mutation	SNP	ENST00000395762.2	37	CCDS10629.1	.	.	.	.	.	.	.	.	.	.	C	37	6.259888	0.97421	.	.	ENSG00000077238	ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630	.	.	.	5.16	3.14	0.36123	.	6.252000	0.00166	N	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	-6.6276	6.1989	0.20565	0.1908:0.7127:0.0:0.0965	.	.	.	.	X	556;556;541;556	.	ENSP00000170630:R556X	R	+	1	2	IL4R	27281840	0.010000	0.17322	0.005000	0.12908	0.109000	0.19521	1.471000	0.35365	0.532000	0.28657	0.555000	0.69702	CGA		0.637	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4			T	27374339	C	T	27374339	4	4	722	1	0	0	0	0	0	1	0	0	7700	644	23	1	1718	1	IL4R	16	27374339	Nonsense_Mutation	SNP	C	TCGA-KM-8476-01A-11D-2310-10	10171703	27374339	62980414	78	40573											
MAPK3	5595	broad.mit.edu	37	16	30128535	30128535	+	Missense_Mutation	SNP	A	A	G			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr16:30128535A>G	ENST00000263025.4	-	6	931	c.847T>C	c.(847-849)Tct>Cct	p.S283P	MAPK3_ENST00000395200.1_Missense_Mutation_p.S215P|MAPK3_ENST00000395202.1_Intron|MAPK3_ENST00000395199.3_Missense_Mutation_p.S283P|MAPK3_ENST00000403394.1_Missense_Mutation_p.S283P|MAPK3_ENST00000484663.1_Missense_Mutation_p.S169P|MAPK3_ENST00000322266.5_Intron|MAPK3_ENST00000494643.1_5'Flank	NM_002746.2	NP_002737.2	P27361	MK03_HUMAN	mitogen-activated protein kinase 3	283	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)	GAGGGCAGAGACTGTAGGTAG	0.532																																																0													137	126	129					16																	30128535		2197	4300	6497	SO:0001583	missense	5595			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.847T>C	16.37:g.30128535A>G	ENSP00000263025:p.Ser283Pro		A8CZ58|B0LPG3|Q8NHX1	Missense_Mutation	SNP	ENST00000263025.4	37	CCDS10672.1	.	.	.	.	.	.	.	.	.	.	A	32	5.128040	0.94473	.	.	ENSG00000102882	ENST00000263025;ENST00000484663;ENST00000403394;ENST00000395200;ENST00000478356;ENST00000395199	T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;2.77;0.95	5.7	5.7	0.88788	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.056597	0.64402	D	0.000001	T	0.49695	0.1572	L	0.49256	1.55	0.80722	D	1	P;P	0.49559	0.925;0.891	P;P	0.50617	0.594;0.646	T	0.52815	-0.8525	10	0.87932	D	0	0.1679	14.9339	0.70938	1.0:0.0:0.0:0.0	.	283;283	P27361-3;P27361	.;MK03_HUMAN	P	283;169;283;215;46;283	ENSP00000263025:S283P;ENSP00000432742:S169P;ENSP00000384895:S283P;ENSP00000378626:S215P;ENSP00000432292:S46P;ENSP00000378625:S283P	ENSP00000263025:S283P	S	-	1	0	MAPK3	30036036	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.269000	0.95684	2.171000	0.68590	0.482000	0.46254	TCT		0.532	MAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255196.2			G	30128535	A	G	30128535	3	3	722	1	0	0	0	0	1	0	0	0	9281	275	10	3	361	3	MAPK3	16	30128535	Missense_Mutation	SNP	A	TCGA-KM-8476-01A-11D-2310-10	2754196	30128535	60226218	79	40574											
ST3GAL2	6483	broad.mit.edu	37	16	70432188	70432188	+	Silent	SNP	G	G	A			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr16:70432188G>A	ENST00000393640.4	-	1	2353	c.246C>T	c.(244-246)tcC>tcT	p.S82S	ST3GAL2_ENST00000566097.1_5'Flank|ST3GAL2_ENST00000342907.2_Silent_p.S82S|RP11-529K1.4_ENST00000566960.1_RNA			Q16842	SIA4B_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 2	82					amino sugar metabolic process (GO:0006040)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)	p.S82S(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	11		Ovarian(137;0.0694)				CAAACCAGTCGGAGGCACCGG	0.627																																																1	Substitution - coding silent(1)	large_intestine(1)											65	62	63					16																	70432188		2198	4300	6498	SO:0001819	synonymous_variant	6483			U63090	CCDS10890.1	16q22.3	2013-03-01	2003-01-14	2005-02-07	ENSG00000157350	ENSG00000157350	2.4.99.4	"Sialyltransferases"	10863	protein-coding gene	gene with protein product		607188	"sialyltransferase 4B (beta-galactosidase alpha-2,3-sialytransferase)"	SIAT4B		9266697, 8920913	Standard	NM_006927		Approved	ST3GALII, ST3GalA.2	uc002eyx.2	Q16842	OTTHUMG00000137580	ENST00000393640.4:c.246C>T	16.37:g.70432188G>A			O00654	Silent	SNP	ENST00000393640.4	37	CCDS10890.1																																																																																				0.627	ST3GAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268968.1	NM_006927		A	70432188	G	A	70432188	2	1	722	1	0	0	0	0	0	0	0	1	15220	1103	39	1		1	ST3GAL2	16	70432188	Silent	SNP	G	TCGA-KM-8476-01A-11D-2310-10	40303653	70432188	19922565	80	40575											
SDR42E1	93517	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	16	82032717	82032717	+	Nonstop_Mutation	SNP	C	C	A			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr16:82032717C>A	ENST00000328945.5	-	3	1308	c.1181G>T	c.(1180-1182)tGa>tTa	p.*394L	SDR42E1_ENST00000534209.1_5'Flank	NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E, member 1	0					steroid biosynthetic process (GO:0006694)	integral component of membrane (GO:0016021)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)			NS(2)|endometrium(1)|lung(4)|skin(3)	10						GCCCCTCCTTCACAGTGACAG	0.453																																																0													52	50	51					16																	82032717		1924	4143	6067	SO:0001578	stop_lost	93517			AF161368	CCDS42205.1	16q23.3	2011-09-14				ENSG00000184860	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	29834	protein-coding gene	gene with protein product						19027726	Standard	NM_145168		Approved	HSPC105	uc002fgu.3	Q8WUS8		ENST00000328945.5:c.1181G>T	16.37:g.82032717C>A			B2RDS1|Q9P0D1	Missense_Mutation	SNP	ENST00000328945.5	37	CCDS42205.1	.	.	.	.	.	.	.	.	.	.	C	8.094	0.775064	0.16051	.	.	ENSG00000184860	ENST00000328945	.	.	.	5.52	4.56	0.56223	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.0364	0.53427	0.0:0.9198:0.0:0.0802	.	.	.	.	L	394	.	.	X	-	2	2	SDR42E1	80590218	0.065000	0.20965	0.785000	0.31869	0.099000	0.18886	0.580000	0.23803	1.310000	0.45006	0.655000	0.94253	TGA		0.453	SDR42E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388081.2	NM_145168		A	82032717	C	A	82032717	4	1	722	1	0	0	0	0	0	0	0	0	13979	837	29	4	4	4	SDR42E1	16	82032717	Nonstop_Mutation	SNP	C	TCGA-KM-8476-01A-11D-2310-10	11600529	82032717	8322036	81	40576											
USP10	9100	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	16	84793019	84793019	+	Missense_Mutation	SNP	C	C	A			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr16:84793019C>A	ENST00000219473.7	+	6	1448	c.1335C>A	c.(1333-1335)ttC>ttA	p.F445L	USP10_ENST00000570191.1_Missense_Mutation_p.F449L	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	445	USP.				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						TGATGAAGTTCATTCCTCTGT	0.463																																																0													119	108	112					16																	84793019		2002	4166	6168	SO:0001583	missense	9100			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.1335C>A	16.37:g.84793019C>A	ENSP00000219473:p.Phe445Leu		B2RDJ8|B4DS84|Q9BWG7|Q9NSL7	Missense_Mutation	SNP	ENST00000219473.7	37	CCDS45537.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.156402	0.38119	.	.	ENSG00000103194	ENST00000219473;ENST00000397953	T	0.29397	1.57	5.51	5.51	0.81932	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.496131	0.22318	N	0.061647	T	0.15998	0.0385	N	0.03324	-0.35	0.35949	D	0.833793	B;B	0.09022	0.002;0.0	B;B	0.10450	0.002;0.005	T	0.14868	-1.0457	10	0.10636	T	0.68	-11.3568	18.7823	0.91939	0.0:1.0:0.0:0.0	.	449;445	Q14694-3;Q14694	.;UBP10_HUMAN	L	445;7	ENSP00000219473:F445L	ENSP00000219473:F445L	F	+	3	2	USP10	83350520	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.322000	0.59215	2.746000	0.94184	0.591000	0.81541	TTC		0.463	USP10-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433660.1			A	84793019	C	A	84793019	3	1	722	1	0	0	0	0	1	0	0	0	17046	825	29	4	1357	4	USP10	16	84793019	Missense_Mutation	SNP	C	TCGA-KM-8476-01A-11D-2310-10	2760302	84793019	5561734	82	40577											
MYH1	4619	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	17	10395792	10395792	+	Missense_Mutation	SNP	C	C	T			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr17:10395792C>T	ENST00000226207.5	-	40	5855	c.5761G>A	c.(5761-5763)Gtc>Atc	p.V1921I	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	1921					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						AGCTTGTTGACCTGGGACTCA	0.483																																																0													196	179	185					17																	10395792		2203	4300	6503	SO:0001583	missense	4619				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"Myosins / Myosin superfamily : Class II"	7567	protein-coding gene	gene with protein product	"myosin heavy chain IIx/d"	160730	"myosin, heavy polypeptide 1, skeletal muscle, adult"			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.5761G>A	17.37:g.10395792C>T	ENSP00000226207:p.Val1921Ile		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.213942	0.79352	.	.	ENSG00000109061	ENST00000226207	T	0.77750	-1.12	4.63	4.63	0.57726	Myosin tail (1);	0.000000	0.36234	U	0.002701	T	0.79370	0.4434	M	0.79258	2.445	0.54753	D	0.999985	B	0.14805	0.011	B	0.20577	0.03	T	0.76729	-0.2852	10	0.39692	T	0.17	.	18.0186	0.89249	0.0:1.0:0.0:0.0	.	1921	P12882	MYH1_HUMAN	I	1921	ENSP00000226207:V1921I	ENSP00000226207:V1921I	V	-	1	0	MYH1	10336517	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.568000	0.82369	2.546000	0.85860	0.655000	0.94253	GTC		0.483	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		T	10395792	C	T	10395792	3	4	722	1	0	0	0	0	1	0	0	0	10031	507	18	2	62	2	MYH1	17	10395792	Missense_Mutation	SNP	C	TCGA-KM-8476-01A-11D-2310-10		10395792	70799418	83	40578											
TRIM16	10626	broad.mit.edu	37	17	15534987	15534987	+	Missense_Mutation	SNP	G	G	A			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr17:15534987G>A	ENST00000578237.1	-	10	1912	c.1057C>T	c.(1057-1059)Cgc>Tgc	p.R353C	TRIM16_ENST00000579219.1_Intron|RP11-385D13.1_ENST00000455584.2_Missense_Mutation_p.R353C|TRIM16_ENST00000577886.1_Missense_Mutation_p.R137C|TRIM16_ENST00000416464.2_Missense_Mutation_p.R223C|TRIM16_ENST00000336708.7_Missense_Mutation_p.R353C			O95361	TRI16_HUMAN	tripartite motif containing 16	353					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)		CAATATTTGCGCTGAACAACG	0.483																																																0													163	133	143					17																	15534987		2203	4300	6503	SO:0001583	missense	10626			AF096870	CCDS11171.1	17p11.2	2011-04-20	2011-01-25		ENSG00000221926	ENSG00000221926		"Tripartite motif containing / Tripartite motif containing"	17241	protein-coding gene	gene with protein product	"estrogen-responsive B box protein"	609505	"tripartite motif-containing 16"			11331580	Standard	NM_006470		Approved	EBBP	uc002gor.1	O95361	OTTHUMG00000059067	ENST00000578237.1:c.1057C>T	17.37:g.15534987G>A	ENSP00000463188:p.Arg353Cys		Q6IAL8|Q7Z6I2|Q96BE8|Q96J43	Missense_Mutation	SNP	ENST00000578237.1	37	CCDS11171.1	.	.	.	.	.	.	.	.	.	.	.	9.308	1.054847	0.19907	.	.	ENSG00000221926	ENST00000336708;ENST00000416464	T;T	0.69040	-0.13;-0.37	4.61	4.61	0.57282	.	1.272180	0.05169	N	0.499214	T	0.66587	0.2804	L	0.47716	1.5	0.09310	N	1	D;D;D	0.63880	0.987;0.987;0.993	P;P;B	0.46144	0.505;0.505;0.446	T	0.55179	-0.8181	10	0.39692	T	0.17	.	10.5666	0.45175	0.0:0.0:0.8072:0.1928	.	223;353;367	B3KP96;O95361;Q59EB2	.;TRI16_HUMAN;.	C	353;223	ENSP00000338989:R353C;ENSP00000399918:R223C	ENSP00000338989:R353C	R	-	1	0	TRIM16	15475712	0.505000	0.26131	0.009000	0.14445	0.923000	0.55619	1.783000	0.38664	2.262000	0.75019	0.555000	0.69702	CGC		0.483	TRIM16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130700.2	NM_006470		A	15534987	G	A	15534987	3	1	722	1	0	0	0	0	1	0	0	0	16496	1087	38	1	645	1	TRIM16	17	15534987	Missense_Mutation	SNP	G	TCGA-KM-8476-01A-11D-2310-10	5139195	15534987	65660223	84	40579											
ULK2	9706	ucsc.edu	37	17	19705212	19705212	+	Missense_Mutation	SNP	T	T	C			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr17:19705212T>C	ENST00000395544.4	-	16	1818	c.1319A>G	c.(1318-1320)aAc>aGc	p.N440S	ULK2_ENST00000361658.2_Missense_Mutation_p.N440S|ULK2_ENST00000580130.1_5'UTR	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	440					autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|negative regulation of collateral sprouting (GO:0048671)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)|response to starvation (GO:0042594)|signal transduction (GO:0007165)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|pre-autophagosomal structure membrane (GO:0034045)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					GGGGCTGGTGTTGGACCTTCG	0.483																																																0													163	166	165					17																	19705212		2203	4300	6503	SO:0001583	missense	9706			AB014523	CCDS11213.1	17p11.2	2014-02-12	2013-07-02		ENSG00000083290	ENSG00000083290	2.7.11.1		13480	protein-coding gene	gene with protein product		608650	"unc-51 (C. elegans)-like kinase 2", "unc-51-like kinase 2 (C. elegans)"			10557072	Standard	NM_014683		Approved	KIAA0623, Unc51.2, ATG1B	uc002gwn.3	Q8IYT8	OTTHUMG00000059511	ENST00000395544.4:c.1319A>G	17.37:g.19705212T>C	ENSP00000378914:p.Asn440Ser		A8MY69|O75119	Missense_Mutation	SNP	ENST00000395544.4	37	CCDS11213.1	.	.	.	.	.	.	.	.	.	.	T	9.279	1.047567	0.19827	.	.	ENSG00000083290	ENST00000361658;ENST00000395544	T;T	0.44083	0.93;0.93	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.35158	0.0922	N	0.02916	-0.46	0.49915	D	0.999834	D	0.69078	0.997	D	0.70716	0.97	T	0.31888	-0.9927	10	0.02654	T	1	-23.0341	15.7258	0.77756	0.0:0.0:0.0:1.0	.	440	Q8IYT8	ULK2_HUMAN	S	440	ENSP00000354877:N440S;ENSP00000378914:N440S	ENSP00000354877:N440S	N	-	2	0	ULK2	19645804	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.465000	0.80898	2.311000	0.77944	0.533000	0.62120	AAC		0.483	ULK2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132375.2	NM_014683		C	19705212	T	C	19705212	3	2	722	1	0	0	0	0	1	0	0	0	16981	1725	60	3	1839	3	ULK2	17	19705212	Missense_Mutation	SNP	T	TCGA-KM-8476-01A-11D-2310-10	4170225	19705212	61489998	85	40580											
LRRC37A	9884	ucsc.edu	37	17	44408776	44408776	+	Missense_Mutation	SNP	T	T	C	rs273532		TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr17:44408776T>C	ENST00000320254.5	+	9	4136	c.4133T>C	c.(4132-4134)cTt>cCt	p.L1378P	LRRC37A_ENST00000496930.1_Missense_Mutation_p.L416P|ARL17B_ENST00000434041.2_Intron|ARL17B_ENST00000575698.1_Intron|LRRC37A_ENST00000393465.3_Missense_Mutation_p.L1378P|ARL17B_ENST00000570618.1_Intron|ARL17B_ENST00000575960.1_Intron	NM_014834.4	NP_055649.4	A6NMS7	L37A1_HUMAN	leucine rich repeat containing 37A	1378						integral component of membrane (GO:0016021)				endometrium(1)|lung(2)|pancreas(6)|prostate(1)|skin(1)	11		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		GTATCTGCTCTTTCAGAACAT	0.388																																																0													23	18	20					17																	44408776		1771	1871	3642	SO:0001583	missense	9884			BC040501	CCDS11504.2	17q21.31	2014-04-01			ENSG00000176681	ENSG00000176681			29069	protein-coding gene	gene with protein product						9628581, 15533724	Standard	NM_014834		Approved	KIAA0563	uc031rbr.1	A6NMS7	OTTHUMG00000149841	ENST00000320254.5:c.4133T>C	17.37:g.44408776T>C	ENSP00000326324:p.Leu1378Pro		Q68DY2|Q8IWC7	Missense_Mutation	SNP	ENST00000320254.5	37	CCDS11504.2	63	0.028846153846153848	2	0.0040650406504065045	19	0.052486187845303865	5	0.008741258741258742	37	0.048812664907651716	c	4.196	0.035078	0.08101	.	.	ENSG00000176681	ENST00000496930;ENST00000393466;ENST00000393465;ENST00000320254	T;T;T	0.56103	1.64;0.5;0.48	2.1	-2.82	0.05787	.	.	.	.	.	T	0.02156	0.0067	N	0.00648	-1.295	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.12863	-1.0531	9	0.05721	T	0.95	.	7.6392	0.28284	0.0:0.341:0.0:0.659	.	416;1378	E9PP10;A6NMS7	.;L37A1_HUMAN	P	416;1378;1378;1378	ENSP00000437021:L416P;ENSP00000377108:L1378P;ENSP00000326324:L1378P	ENSP00000326324:L1378P	L	+	2	0	LRRC37A	41764537	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-2.004000	0.01461	-1.201000	0.02659	-0.495000	0.04643	CTT		0.388	LRRC37A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313519.3	NM_014834		C	44408776	T	C	44408776	3	2	722	1	0	0	0	0	1	0	0	0	8993	1609	56	3	4167	3	LRRC37A	17	44408776	Missense_Mutation	SNP	T	TCGA-KM-8476-01A-11D-2310-10	24703564	44408776	36786434	86	40581											
DLX3	1747	ucsc.edu	37	17	48072253	48072253	+	Missense_Mutation	SNP	A	A	G			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr17:48072253A>G	ENST00000434704.2	-	1	335	c.110T>C	c.(109-111)gTc>gCc	p.V37A	RP11-1094H24.3_ENST00000511867.1_lincRNA|DLX3_ENST00000512495.2_5'Flank	NM_005220.2	NP_005211.1	O60479	DLX3_HUMAN	distal-less homeobox 3	37					blood vessel development (GO:0001568)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|placenta development (GO:0001890)	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						CAGGTCAGTGACAGAAGACTC	0.592																																																0													95	92	93					17																	48072253		2203	4300	6503	SO:0001583	missense	1747				CCDS11556.1	17q21.33	2011-06-20	2005-12-22			ENSG00000064195		"Homeoboxes / ANTP class : NKL subclass"	2916	protein-coding gene	gene with protein product		600525	"distal-less homeo box 3"			7613049	Standard	NM_005220		Approved		uc002ipy.3	O60479		ENST00000434704.2:c.110T>C	17.37:g.48072253A>G	ENSP00000389870:p.Val37Ala		B3KQL6	Missense_Mutation	SNP	ENST00000434704.2	37	CCDS11556.1	.	.	.	.	.	.	.	.	.	.	A	4.173	0.030746	0.08101	.	.	ENSG00000064195	ENST00000434704	D	0.89123	-2.47	5.01	5.01	0.66863	.	0.075441	0.53938	D	0.000058	T	0.66257	0.2771	N	0.01522	-0.82	0.80722	D	1	B	0.06786	0.001	B	0.11329	0.006	T	0.64935	-0.6290	10	0.02654	T	1	-31.6637	7.3354	0.26607	0.9044:0.0:0.0956:0.0	.	37	O60479	DLX3_HUMAN	A	37	ENSP00000389870:V37A	ENSP00000389870:V37A	V	-	2	0	DLX3	45427252	0.999000	0.42202	0.995000	0.50966	0.996000	0.88848	1.415000	0.34748	2.115000	0.64714	0.402000	0.26972	GTC		0.592	DLX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366307.1			G	48072253	A	G	48072253	3	3	722	1	0	0	0	0	1	0	0	0	4574	275	10	3	765	3	DLX3	17	48072253	Missense_Mutation	SNP	A	TCGA-KM-8476-01A-11D-2310-10	3663477	48072253	33122957	87	40582											
RNF43	54894	ucsc.edu	37	17	56439960	56439960	+	Missense_Mutation	SNP	A	A	G			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr17:56439960A>G	ENST00000584437.1	-	5	2587	c.632T>C	c.(631-633)gTg>gCg	p.V211A	RNF43_ENST00000407977.2_Missense_Mutation_p.V211A|RNF43_ENST00000581868.1_Missense_Mutation_p.V84A|RNF43_ENST00000500597.2_Missense_Mutation_p.V170A|RNF43_ENST00000577625.1_Missense_Mutation_p.V84A|RNF43_ENST00000583753.1_Missense_Mutation_p.V170A|RNF43_ENST00000577716.1_Missense_Mutation_p.V211A|BZRAP1-AS1_ENST00000583841.1_RNA			Q68DV7	RNF43_HUMAN	ring finger protein 43	211					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)					CAGGATGATCACAAAGATGGT	0.602																																																0													105	88	94					17																	56439960		2203	4300	6503	SO:0001583	missense	54894				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.632T>C	17.37:g.56439960A>G	ENSP00000463069:p.Val211Ala		A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Missense_Mutation	SNP	ENST00000584437.1	37	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.643799	0.87859	.	.	ENSG00000108375	ENST00000407977;ENST00000500597	T;T	0.10382	3.01;2.88	5.43	5.43	0.79202	.	0.274603	0.36303	N	0.002671	T	0.15739	0.0379	N	0.24115	0.695	0.36538	D	0.871114	P;D;P	0.58970	0.952;0.984;0.951	P;P;P	0.55871	0.713;0.786;0.622	T	0.13602	-1.0503	10	0.40728	T	0.16	-15.9882	14.6434	0.68742	1.0:0.0:0.0:0.0	.	170;211;211	Q68DV7-2;Q68DV7-4;Q68DV7	.;.;RNF43_HUMAN	A	211;170	ENSP00000385328:V211A;ENSP00000441969:V170A	ENSP00000385328:V211A	V	-	2	0	RNF43	53794959	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.542000	0.67218	2.058000	0.61347	0.402000	0.26972	GTG		0.602	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		G	56439960	A	G	56439960	3	3	722	1	0	0	0	0	1	0	0	0	13501	159	6	3	1739	3	RNF43	17	56439960	Missense_Mutation	SNP	A	TCGA-KM-8476-01A-11D-2310-10	8367707	56439960	24755250	88	40583											
LRRC37A3	374819	bcgsc.ca	37	17	62892919	62892919	+	Missense_Mutation	SNP	C	C	A			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr17:62892919C>A	ENST00000584306.1	-	3	987	c.457G>T	c.(457-459)Gat>Tat	p.D153Y	LRRC37A3_ENST00000319651.5_Missense_Mutation_p.D153Y|LRRC37A3_ENST00000339474.5_Intron|RP11-927P21.1_ENST00000584131.1_RNA|RP11-927P21.1_ENST00000577938.1_RNA|LRRC37A3_ENST00000400877.3_Intron|RP11-927P21.2_ENST00000581622.1_RNA|LRRC37A3_ENST00000577487.1_5'Flank|RP11-927P21.1_ENST00000584959.1_RNA	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	153						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						TGAGCTGGATCTTTCTTCAGC	0.478																																																0													49	88	75					17																	62892919		1639	3463	5102	SO:0001583	missense	374819			AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.457G>T	17.37:g.62892919C>A	ENSP00000464535:p.Asp153Tyr		Q49A01|Q49A80|Q8NB33	Missense_Mutation	SNP	ENST00000584306.1	37	CCDS32708.1	.	.	.	.	.	.	.	.	.	.	.	8.215	0.801125	0.16397	.	.	ENSG00000176809	ENST00000319651	T	0.70164	-0.46	1.87	0.862	0.19056	.	.	.	.	.	T	0.65312	0.2679	L	0.50333	1.59	0.09310	N	1	D	0.53462	0.96	P	0.52856	0.711	T	0.54925	-0.8220	9	0.66056	D	0.02	.	4.5234	0.11969	0.0:0.7977:0.0:0.2023	.	153	O60309	L37A3_HUMAN	Y	153	ENSP00000325713:D153Y	ENSP00000325713:D153Y	D	-	1	0	LRRC37A3	60323381	0.017000	0.18338	0.000000	0.03702	0.043000	0.13939	0.844000	0.27654	0.349000	0.23975	0.162000	0.16502	GAT		0.478	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445377.1	NM_199340		A	62892919	C	A	62892919	3	1	722	1	0	0	0	0	1	0	0	0	8995	913	32	4	4495	4	LRRC37A3	17	62892919	Missense_Mutation	SNP	C	TCGA-KM-8476-01A-11D-2310-10	6452959	62892919	18302291	89	40584											
ESCO1	114799	hgsc.bcm.edu;ucsc.edu	37	18	19116141	19116141	+	Silent	SNP	G	G	A	rs369669502		TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr18:19116141G>A	ENST00000269214.5	-	10	2986	c.2049C>T	c.(2047-2049)gaC>gaT	p.D683D		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	683					mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)|sister chromatid cohesion (GO:0007062)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|transferase activity, transferring acyl groups (GO:0016746)			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						CTCTAATCTCGTCAACCTGCC	0.308																																																0								G		1,4405	2.1+/-5.4	0,1,2202	89	87	88		2049	-4.2	1	18		88	0,8600		0,0,4300	no	coding-synonymous	ESCO1	NM_052911.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		683/841	19116141	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	114799			AL832041	CCDS32800.1	18q11.2	2013-05-02	2013-05-02		ENSG00000141446	ENSG00000141446			24645	protein-coding gene	gene with protein product		609674	"establishment of cohesion 1 homolog 1 (S. cerevisiae)"			11572484, 14576321, 15958495	Standard	NM_052911		Approved	ESO1, EFO1, KIAA1911	uc002kth.1	Q5FWF5		ENST00000269214.5:c.2049C>T	18.37:g.19116141G>A			B0YJ11|B0YJ12|Q69YG4|Q69YS3|Q6IMD7|Q8N3Z5|Q8NBG2|Q96PX7	Silent	SNP	ENST00000269214.5	37	CCDS32800.1																																																																																				0.308	ESCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443942.1	NM_052911		A	19116141	G	A	19116141	2	1	722	1	0	0	0	0	0	0	0	1	5250	1136	40	1		1	ESCO1	18	19116141	Silent	SNP	G	TCGA-KM-8476-01A-11D-2310-10		19116141	58961107	90	40585											
FAM69C	125704	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	18	72114400	72114400	+	Missense_Mutation	SNP	G	G	T			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr18:72114400G>T	ENST00000343998.6	-	2	325	c.317C>A	c.(316-318)gCc>gAc	p.A106D	FAM69C_ENST00000400291.2_Intron	NM_001044369.2	NP_001037834.2	Q0P6D2	FA69C_HUMAN	family with sequence similarity 69, member C	106						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(1)|large_intestine(2)|ovary(2)	5						GCGCCAGTCGGCCTGCAGCAC	0.677																																																0													9	10	10					18																	72114400		688	1586	2274	SO:0001583	missense	125704			BC019628	CCDS42445.2	18q22.3	2012-08-03	2009-07-23	2009-07-23	ENSG00000187773	ENSG00000187773			31729	protein-coding gene	gene with protein product		614544	"chromosome 18 open reading frame 51"	C18orf51		21334309	Standard	NM_001044369		Approved		uc002llk.3	Q0P6D2	OTTHUMG00000156984	ENST00000343998.6:c.317C>A	18.37:g.72114400G>T	ENSP00000344331:p.Ala106Asp			Missense_Mutation	SNP	ENST00000343998.6	37	CCDS42445.2	.	.	.	.	.	.	.	.	.	.	G	17.61	3.432118	0.62844	.	.	ENSG00000187773	ENST00000343998	T	0.54071	0.59	3.77	3.77	0.43336	.	.	.	.	.	T	0.65396	0.2687	L	0.46157	1.445	0.58432	D	0.999999	D	0.76494	0.999	D	0.70935	0.971	T	0.69989	-0.4995	9	0.66056	D	0.02	.	16.1637	0.81739	0.0:0.0:1.0:0.0	.	106	Q0P6D2	FA69C_HUMAN	D	106	ENSP00000344331:A106D	ENSP00000344331:A106D	A	-	2	0	FAM69C	70265380	1.000000	0.71417	0.952000	0.39060	0.348000	0.29142	9.115000	0.94336	2.084000	0.62774	0.491000	0.48974	GCC		0.677	FAM69C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346971.2	XM_058931		T	72114400	G	T	72114400	3	4	722	1	0	0	0	0	1	0	0	0	5606	1203	42	4	954	4	FAM69C	18	72114400	Missense_Mutation	SNP	G	TCGA-KM-8476-01A-11D-2310-10	52998259	72114400	5962848	91	40586											
ATP9B	374868	broad.mit.edu	37	18	77090010	77090010	+	Splice_Site	SNP	A	A	G			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr18:77090010A>G	ENST00000426216.2	+	17	1952		c.e17-1		ATP9B_ENST00000543761.1_5'Flank|ATP9B_ENST00000307671.7_Splice_Site	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B						establishment of protein localization to Golgi (GO:0072600)|phospholipid translocation (GO:0045332)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		GTTCTTTGATAGGATGAATCC	0.423																																																0													117	108	111					18																	77090010		2203	4300	6503	SO:0001630	splice_region_variant	374868			R51412	CCDS12014.1	18q23	2010-04-20	2007-09-19		ENSG00000166377	ENSG00000166377		"ATPases / P-type"	13541	protein-coding gene	gene with protein product		614446	"ATPase, Class II, type 9B"			9548971, 11015572	Standard	NM_198531		Approved	ATPIIB	uc002lmx.3	O43861	OTTHUMG00000132898	ENST00000426216.2:c.1936-1A>G	18.37:g.77090010A>G			O60872|Q08AD8|Q08AD9	Splice_Site	SNP	ENST00000426216.2	37	CCDS12014.1	.	.	.	.	.	.	.	.	.	.	A	12.78	2.040743	0.35989	.	.	ENSG00000166377	ENST00000426216;ENST00000307671	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1027	0.72292	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATP9B	75190998	1.000000	0.71417	0.984000	0.44739	0.294000	0.27393	8.880000	0.92407	2.018000	0.59344	0.533000	0.62120	.		0.423	ATP9B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256402.3	NM_198531	Intron	G	77090010	A	G	77090010	5	3	722	1	0	0	0	0	0	0	1	0	1199	434	15	3	2000	3	ATP9B	18	77090010	Splice_Site	SNP	A	TCGA-KM-8476-01A-11D-2310-10	4975610	77090010	987238	92	40587											
ICAM1	3383	mdanderson.org;bcgsc.ca	37	19	10395799	10395799	+	Missense_Mutation	SNP	T	T	C			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr19:10395799T>C	ENST00000264832.3	+	7	1760	c.1435T>C	c.(1435-1437)Tat>Cat	p.Y479H	ICAM4_ENST00000340992.4_5'Flank|CTD-2369P2.8_ENST00000589379.1_RNA|ICAM4_ENST00000393717.2_5'Flank|ICAM1_ENST00000423829.2_Missense_Mutation_p.Y257H|CTD-2369P2.5_ENST00000592893.1_RNA|ICAM4_ENST00000380770.3_5'Flank	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	479					adhesion of symbiont to host (GO:0044406)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell aging (GO:0007569)|cellular response to alkaloid (GO:0071312)|cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nutrient levels (GO:0031669)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|establishment of endothelial barrier (GO:0061028)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|ovarian follicle development (GO:0001541)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cellular extravasation (GO:0002693)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of vasoconstriction (GO:0045907)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of leukocyte mediated cytotoxicity (GO:0001910)|regulation of ruffle assembly (GO:1900027)|response to amino acid (GO:0043200)|response to amphetamine (GO:0001975)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gonadotropin (GO:0034698)|response to ionizing radiation (GO:0010212)|response to organic cyclic compound (GO:0014070)|response to sulfur dioxide (GO:0010477)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)|T cell antigen processing and presentation (GO:0002457)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Hyaluronan(DB08818)|Natalizumab(DB00108)	AGCCCCCCGGTATGAGATTGT	0.582																																																0													95	99	98					19																	10395799		2203	4300	6503	SO:0001583	missense	3383				CCDS12231.1	19p13.3-p13.2	2014-01-30	2008-07-18			ENSG00000090339		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Endogenous ligands"	5344	protein-coding gene	gene with protein product	"human rhinovirus receptor"	147840				2453850, 3871395	Standard	NM_000201		Approved	BB2, CD54	uc002mnq.2	P05362		ENST00000264832.3:c.1435T>C	19.37:g.10395799T>C	ENSP00000264832:p.Tyr479His		B2R6M3|Q5NKV7|Q96B50	Missense_Mutation	SNP	ENST00000264832.3	37	CCDS12231.1	.	.	.	.	.	.	.	.	.	.	T	6.128	0.391854	0.11581	.	.	ENSG00000090339	ENST00000264832;ENST00000423829	T;T	0.15139	2.45;2.45	5.22	-8.02	0.01118	.	4.968880	0.00728	N	0.000934	T	0.07863	0.0197	N	0.22421	0.69	0.09310	N	1	B;B	0.15473	0.004;0.013	B;B	0.08055	0.003;0.001	T	0.27536	-1.0071	10	0.15499	T	0.54	0.0697	0.8733	0.01219	0.2333:0.1331:0.3035:0.3301	.	257;479	E7ESS4;P05362	.;ICAM1_HUMAN	H	479;257	ENSP00000264832:Y479H;ENSP00000413124:Y257H	ENSP00000264832:Y479H	Y	+	1	0	ICAM1	10256799	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.518000	0.06267	-1.908000	0.01086	-0.337000	0.08149	TAT		0.582	ICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451207.1			C	10395799	T	C	10395799	3	2	722	1	0	0	0	0	1	0	0	0	7481	1638	57	3	1461	3	ICAM1	19	10395799	Missense_Mutation	SNP	T	TCGA-KM-8476-01A-11D-2310-10		10395799	48733184	93	40588											
QTRT1	81890	broad.mit.edu	37	19	10823283	10823283	+	Silent	SNP	C	C	T	rs568267343		TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr19:10823283C>T	ENST00000250237.5	+	7	850	c.840C>T	c.(838-840)tgC>tgT	p.C280C		NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	280					queuosine biosynthetic process (GO:0008616)|tRNA modification (GO:0006400)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|queuine tRNA-ribosyltransferase activity (GO:0008479)			large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			TGTTCGACTGCGTCTTCCCCA	0.642													C|||	1	0.000199681	0.0	0.0	5008	,	,		14819	0.0		0.001	False		,,,				2504	0.0															0													130	119	123					19																	10823283		2203	4300	6503	SO:0001819	synonymous_variant	81890			AF302783	CCDS12248.1	19p13.3	2014-06-11	2008-07-31		ENSG00000213339	ENSG00000213339	2.4.2.29		23797	protein-coding gene	gene with protein product	"tRNA-guanine transglycosylase"	609615				20354154	Standard	NM_031209		Approved	TGT	uc002mpr.3	Q9BXR0		ENST00000250237.5:c.840C>T	19.37:g.10823283C>T			B4DFM7|Q96BQ4|Q9BXQ9	Silent	SNP	ENST00000250237.5	37	CCDS12248.1																																																																																				0.642	QTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452086.1	NM_031209		T	10823283	C	T	10823283	2	4	722	1	0	0	0	0	0	0	0	1	12891	776	27	1		1	QTRT1	19	10823283	Silent	SNP	C	TCGA-KM-8476-01A-11D-2310-10	427484	10823283	48305700	94	40589											
ZNF701	55762	broad.mit.edu;mdanderson.org	37	19	53086657	53086657	+	Nonsense_Mutation	SNP	C	C	T	rs370144367		TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr19:53086657C>T	ENST00000540331.1	+	5	1768	c.1543C>T	c.(1543-1545)Cga>Tga	p.R515*	ZNF701_ENST00000391785.3_Nonsense_Mutation_p.R449*|CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000301093.2_Nonsense_Mutation_p.R515*	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	515					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.R449*(1)		endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		GGTTTTTAATCGAAAATCAAA	0.358													C|||	1	0.000199681	0.0	0.0014	5008	,	,		22676	0.0		0.0	False		,,,				2504	0.0				NSCLC(89;451 1475 9611 20673 52284)											1	Substitution - Nonsense(1)	large_intestine(1)						C	stop/ARG,stop/ARG	0,4396		0,0,2198	41	41	41		1543,1345	0.6	0	19		41	1,8591	1.2+/-3.3	0,1,4295	no	stop-gained,stop-gained	ZNF701	NM_001172655.1,NM_018260.2	,	0,1,6493	TT,TC,CC		0.0116,0.0,0.0077	,	515/532,449/466	53086657	1,12987	2198	4296	6494	SO:0001587	stop_gained	55762			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.1543C>T	19.37:g.53086657C>T	ENSP00000444339:p.Arg515*		A2RRM8|B9EGF2|F5GZM6|Q66K42	Nonsense_Mutation	SNP	ENST00000540331.1	37	CCDS54311.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.500805	0.85176	0.0	1.16E-4	ENSG00000167562	ENST00000391785;ENST00000301093;ENST00000540331	.	.	.	1.81	0.618	0.17624	.	.	.	.	.	.	.	.	.	.	.	0.23834	N	0.996711	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	8.7109	0.34382	0.0:0.7615:0.2385:0.0	.	.	.	.	X	449;515;515	.	ENSP00000301093:R515X	R	+	1	2	ZNF701	57778469	.	.	0.000000	0.03702	0.027000	0.11550	.	.	0.072000	0.16694	0.306000	0.20318	CGA		0.358	ZNF701-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463467.1	NM_018260		T	53086657	C	T	53086657	4	4	722	1	0	0	0	0	0	1	0	0	18110	876	31	1	1557	1	ZNF701	19	53086657	Nonsense_Mutation	SNP	C	TCGA-KM-8476-01A-11D-2310-10	42263374	53086657	6042326	95	40590											
LILRA3	11026	broad.mit.edu	37	19	54803112	54803112	+	Missense_Mutation	SNP	G	G	A	rs568235562		TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr19:54803112G>A	ENST00000251390.3	-	4	656	c.565C>T	c.(565-567)Cca>Tca	p.P189S	LILRA3_ENST00000391744.3_Intron|LILRA3_ENST00000391745.1_Missense_Mutation_p.P206S	NM_006865.3	NP_006856.3	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	189	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)			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)		CTGCGACTTGGGCTCACGGGG	0.592																																																0													135	115	122					19																	54803112		2195	4164	6359	SO:0001583	missense	11026			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.565C>T	19.37:g.54803112G>A	ENSP00000251390:p.Pro189Ser		J3KPM2|O15469|O15470|O75016|Q8N151|Q8N154|Q8NHJ1|Q8NHJ2|Q8NHJ3|Q8NHJ4	Missense_Mutation	SNP	ENST00000251390.3	37	CCDS12887.1	.	.	.	.	.	.	.	.	.	.	G	6.760	0.509147	0.12883	.	.	ENSG00000170866	ENST00000251390;ENST00000391745	T;T	0.02863	4.13;4.13	1.96	-0.554	0.11811	Immunoglobulin-like fold (1);	0.692657	0.13156	N	0.409475	T	0.03651	0.0104	L	0.52573	1.65	0.09310	N	1	B	0.20780	0.048	B	0.30251	0.113	T	0.38373	-0.9664	10	0.52906	T	0.07	.	6.2264	0.20710	0.0:0.0:0.467:0.533	.	189	Q8N6C8	LIRA3_HUMAN	S	189;206	ENSP00000251390:P189S;ENSP00000375625:P206S	ENSP00000251390:P189S	P	-	1	0	LILRA3	59494924	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-1.571000	0.02138	-0.025000	0.13918	0.485000	0.47835	CCA		0.592	LILRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140236.1			A	54803112	G	A	54803112	3	1	722	1	0	0	0	0	1	0	0	0	8788	1232	43	2	770	2	LILRA3	19	54803112	Missense_Mutation	SNP	G	TCGA-KM-8476-01A-11D-2310-10	1716455	54803112	4325871	96	40591											
MYH7B	57644	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	20	33575696	33575696	+	Silent	SNP	C	C	T			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr20:33575696C>T	ENST00000262873.7	+	16	1613	c.1521C>T	c.(1519-1521)atC>atT	p.I507I	MIR499A_ENST00000384903.1_RNA	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	465	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)			TTCTGGACATCGCTGGGTTTG	0.602																																																0													55	64	61					20																	33575696		2159	4287	6446	SO:0001819	synonymous_variant	57644			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.1521C>T	20.37:g.33575696C>T			Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Silent	SNP	ENST00000262873.7	37	CCDS42869.1																																																																																				0.602	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		T	33575696	C	T	33575696	2	4	722	1	0	0	0	0	0	0	0	1	10042	874	31	1		1	MYH7B	20	33575696	Silent	SNP	C	TCGA-KM-8476-01A-11D-2310-10		33575696	29449824	97	40592											
B3GALT5	10317	ucsc.edu	37	21	41033240	41033240	+	Missense_Mutation	SNP	A	A	G			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr21:41033240A>G	ENST00000380620.4	+	5	1346	c.754A>G	c.(754-756)Agg>Ggg	p.R252G	AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000380618.1_Missense_Mutation_p.R252G|B3GALT5_ENST00000343118.4_Missense_Mutation_p.R252G|B3GALT5_ENST00000398714.2_Missense_Mutation_p.R252G			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5	252					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)				CTGCCTCGAAAGGCTGAACAT	0.547																																																0													94	93	94					21																	41033240		2203	4300	6503	SO:0001583	missense	10317			AB020337	CCDS13667.1, CCDS74795.1	21q22.3	2013-02-19			ENSG00000183778	ENSG00000183778		"Beta 3-glycosyltransferases"	920	protein-coding gene	gene with protein product	"homolog of C. elegans Bt toxin resistance gene bre-5", "GlcNAc-beta-1,3-galactosyltransferase 5"	604066				10212226	Standard	NM_006057		Approved	beta3Gal-T5, B3GalT-V, GLCT5, B3T5	uc002yyj.1	Q9Y2C3	OTTHUMG00000086725	ENST00000380620.4:c.754A>G	21.37:g.41033240A>G	ENSP00000369994:p.Arg252Gly		A8KA86|D3DSI3|Q2M3L5|Q53Z19|Q9NY96|Q9P1X6|Q9P1X7	Missense_Mutation	SNP	ENST00000380620.4	37	CCDS13667.1	.	.	.	.	.	.	.	.	.	.	A	9.108	1.005925	0.19199	.	.	ENSG00000183778	ENST00000380620;ENST00000380618;ENST00000343118;ENST00000398714	D;D;D;D	0.86230	-2.09;-2.09;-2.09;-2.09	5.64	3.23	0.37069	.	0.697068	0.13081	N	0.415340	D	0.82481	0.5046	L	0.57536	1.79	0.09310	N	1	P	0.35124	0.485	B	0.33295	0.161	T	0.74948	-0.3490	10	0.72032	D	0.01	.	5.8292	0.18570	0.6958:0.1628:0.1414:0.0	.	252	Q9Y2C3	B3GT5_HUMAN	G	252	ENSP00000369994:R252G;ENSP00000369992:R252G;ENSP00000343318:R252G;ENSP00000381699:R252G	ENSP00000343318:R252G	R	+	1	2	B3GALT5	39955110	0.997000	0.39634	0.001000	0.08648	0.034000	0.12701	3.644000	0.54381	0.926000	0.37118	0.533000	0.62120	AGG		0.547	B3GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195008.2	NM_033170		G	41033240	A	G	41033240	3	3	722	1	0	0	0	0	1	0	0	0	1250	63	3	3	756	3	B3GALT5	21	41033240	Missense_Mutation	SNP	A	TCGA-KM-8476-01A-11D-2310-10		41033240	7096655	98	40593											
HIC2	23119	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	22	21800335	21800335	+	Missense_Mutation	SNP	C	C	G			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr22:21800335C>G	ENST00000443632.2	+	2	1523	c.1151C>G	c.(1150-1152)cCt>cGt	p.P384R	HIC2_ENST00000407464.2_Missense_Mutation_p.P384R|HIC2_ENST00000407598.2_Missense_Mutation_p.P384R			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	384					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				GGGGCTGGCCCTAGCGGGCCC	0.687																																					NSCLC(23;437 858 2282 27947 40366)											0																																										SO:0001583	missense	23119			AB028943	CCDS13789.1	22q11.21	2013-01-09			ENSG00000169635	ENSG00000169635		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	18595	protein-coding gene	gene with protein product		607712				11554746	Standard	NM_015094		Approved	KIAA1020, HRG22, ZBTB30, ZNF907	uc002zur.4	Q96JB3	OTTHUMG00000150781	ENST00000443632.2:c.1151C>G	22.37:g.21800335C>G	ENSP00000387757:p.Pro384Arg		Q504T6|Q96KR3|Q9NSM9|Q9UPX9	Missense_Mutation	SNP	ENST00000443632.2	37	CCDS13789.1	.	.	.	.	.	.	.	.	.	.	C	2.050	-0.417999	0.04766	.	.	ENSG00000169635	ENST00000407464;ENST00000407598;ENST00000443632	T;T;T	0.10763	2.84;2.84;2.84	4.63	3.58	0.41010	.	1.024570	0.07770	N	0.951539	T	0.05868	0.0153	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.35699	-0.9778	10	0.33141	T	0.24	.	5.5125	0.16888	0.2208:0.6782:0.0:0.101	.	384	Q96JB3	HIC2_HUMAN	R	384	ENSP00000385319:P384R;ENSP00000384889:P384R;ENSP00000387757:P384R	ENSP00000385319:P384R	P	+	2	0	HIC2	20130335	0.004000	0.15560	0.801000	0.32222	0.286000	0.27126	0.749000	0.26320	1.235000	0.43724	0.655000	0.94253	CCT		0.687	HIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320061.2			G	21800335	C	G	21800335	3	3	722	1	0	0	0	0	1	0	0	0	7104	681	24	4	1157	4	HIC2	22	21800335	Missense_Mutation	SNP	C	TCGA-KM-8476-01A-11D-2310-10		21800335	29504231	99	40594											
ZNF280B	140883	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	22	22842485	22842485	+	Silent	SNP	C	C	T	rs141102079	byFrequency	TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr22:22842485C>T	ENST00000406426.1	-	4	1981	c.1239G>A	c.(1237-1239)tcG>tcA	p.S413S	ZNF280B_ENST00000360412.2_Silent_p.S413S			Q86YH2	Z280B_HUMAN	zinc finger protein 280B	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)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	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)		CAGCAAAGACCGACGATCTAT	0.403													C|||	2	0.000399361	0.0015	0.0	5008	,	,		19648	0.0		0.0	False		,,,				2504	0.0															0								C		3,4403	6.2+/-15.9	0,3,2200	131	122	125		1239	-9.2	0	22	dbSNP_134	125	0,8600		0,0,4300	no	coding-synonymous	ZNF280B	NM_080764.2		0,3,6500	TT,TC,CC		0.0,0.0681,0.0231		413/544	22842485	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	140883			AK097608	CCDS13799.1	22q11.2	2007-09-20	2007-09-20	2007-09-20	ENSG00000198477	ENSG00000275004			23022	protein-coding gene	gene with protein product			"zinc finger protein 279", "suppressor of hairy wing homolog 2 (Drosophila)"	ZNF279, SUHW2		9074928	Standard	NM_080764		Approved	5'OY11.1, ZNF632	uc002zwc.1	Q86YH2	OTTHUMG00000151066	ENST00000406426.1:c.1239G>A	22.37:g.22842485C>T				Silent	SNP	ENST00000406426.1	37	CCDS13799.1																																																																																				0.403	ZNF280B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321170.2	NM_080764		T	22842485	C	T	22842485	2	4	722	1	0	0	0	0	0	0	0	1	17820	639	23	1		1	ZNF280B	22	22842485	Silent	SNP	C	TCGA-KM-8476-01A-11D-2310-10	1042150	22842485	28462081	100	40595											
HPS4	89781	broad.mit.edu	37	22	26860415	26860415	+	Missense_Mutation	SNP	A	A	G			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr22:26860415A>G	ENST00000398145.2	-	11	1797	c.1181T>C	c.(1180-1182)gTt>gCt	p.V394A	HPS4_ENST00000493455.2_5'Flank|HPS4_ENST00000398141.1_Missense_Mutation_p.V407A|HPS4_ENST00000402105.3_Missense_Mutation_p.V389A|HPS4_ENST00000336873.5_Missense_Mutation_p.V394A	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	394					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						GCCATCTGGAACAGGCACATG	0.552									Hermansky-Pudlak syndrome																																							0													73	66	68					22																	26860415		2203	4300	6503	SO:0001583	missense	89781	Familial Cancer Database	HPS, HPS1-8		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.1181T>C	22.37:g.26860415A>G	ENSP00000381213:p.Val394Ala		B1AHQ4|Q5H8V6|Q96LX6|Q9BY93|Q9UH37|Q9UH38	Missense_Mutation	SNP	ENST00000398145.2	37	CCDS13835.1	.	.	.	.	.	.	.	.	.	.	A	0.060	-1.226539	0.01518	.	.	ENSG00000100099	ENST00000398145;ENST00000398141;ENST00000402105;ENST00000336873;ENST00000312736;ENST00000422379	T;T;T;T;T	0.52526	1.73;1.69;1.73;1.73;0.66	3.99	0.277	0.15668	.	0.653399	0.13948	N	0.351736	T	0.13243	0.0321	N	0.01410	-0.885	0.09310	N	1	B;B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.001;0.0	B;B;B;B;B;B	0.04013	0.001;0.001;0.001;0.001;0.001;0.001	T	0.25813	-1.0121	10	0.07482	T	0.82	-3.4244	2.9116	0.05739	0.361:0.2352:0.4038:0.0	.	394;394;394;394;407;389	Q6ICH6;Q6P1K3;Q9NQG7;A8K2E6;Q9NQG7-4;Q9NQG7-3	.;.;HPS4_HUMAN;.;.;.	A	394;407;389;394;412;412	ENSP00000381213:V394A;ENSP00000381210:V407A;ENSP00000384185:V389A;ENSP00000338457:V394A;ENSP00000415081:V412A	ENSP00000325840:V412A	V	-	2	0	HPS4	25190415	0.020000	0.18652	0.000000	0.03702	0.022000	0.10575	1.574000	0.36482	-0.090000	0.12462	0.533000	0.62120	GTT		0.552	HPS4-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320778.1	NM_022081		G	26860415	A	G	26860415	3	3	722	1	0	0	0	0	1	0	0	0	7343	43	2	3	961	3	HPS4	22	26860415	Missense_Mutation	SNP	A	TCGA-KM-8476-01A-11D-2310-10	4017930	26860415	24444151	101	40596											
MGAT3	4248	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	22	39884300	39884300	+	Silent	SNP	C	C	T			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr22:39884300C>T	ENST00000341184.6	+	2	1163	c.948C>T	c.(946-948)gaC>gaT	p.D316D		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	316					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)	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0003830)			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					TCATCATTGACGATGCGGACG	0.647																																																0													72	74	73					22																	39884300		2203	4297	6500	SO:0001819	synonymous_variant	4248			D13789	CCDS13994.2	22q13.1	2013-02-25			ENSG00000128268	ENSG00000128268	2.4.1.144	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7046	protein-coding gene	gene with protein product		604621				8370666	Standard	NM_002409		Approved	GNT-III	uc010gxy.3	Q09327	OTTHUMG00000030185	ENST00000341184.6:c.948C>T	22.37:g.39884300C>T			A6NGD0|Q14CK5|Q6IC49|Q9UH32	Silent	SNP	ENST00000341184.6	37	CCDS13994.2																																																																																				0.647	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075039.2	NM_002409		T	39884300	C	T	39884300	2	4	722	1	0	0	0	0	0	0	0	1	9546	535	19	1		1	MGAT3	22	39884300	Silent	SNP	C	TCGA-KM-8476-01A-11D-2310-10	13023885	39884300	11420266	102	40597											
RBM3	5935	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	X	48434802	48434802	+	Missense_Mutation	SNP	C	C	T			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chrX:48434802C>T	ENST00000376759.3	+	4	374	c.311C>T	c.(310-312)tCt>tTt	p.S104F	RBM3_ENST00000354480.2_Silent_p.L77L|RBM3_ENST00000376755.1_Missense_Mutation_p.S104F|AC115618.1_ENST00000376775.2_5'Flank|RBM3_ENST00000466764.1_3'UTR|RBM3_ENST00000430348.2_Silent_p.L77L	NM_006743.4	NP_006734.1	P98179	RBM3_HUMAN	RNA binding motif (RNP1, RRM) protein 3	104	Gly-rich.				positive regulation of translation (GO:0045727)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|regulation of translation (GO:0006417)|response to cold (GO:0009409)|RNA processing (GO:0006396)|translation (GO:0006412)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ribosomal large subunit binding (GO:0043023)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4						CGCAGCTACTCTAGAGGTGAG	0.537																																																0													69	57	61					X																	48434802		2203	4300	6503	SO:0001583	missense	5935			BC006825	CCDS14301.1	Xp11.2	2014-05-19	2004-04-23		ENSG00000102317	ENSG00000102317		"RNA binding motif (RRM) containing"	9900	protein-coding gene	gene with protein product		300027	"RNA binding motif protein 3"			8634703	Standard	NM_006743		Approved	IS1-RNPL	uc004dkf.2	P98179	OTTHUMG00000024121	ENST00000376759.3:c.311C>T	X.37:g.48434802C>T	ENSP00000365950:p.Ser104Phe			Missense_Mutation	SNP	ENST00000376759.3	37	CCDS14301.1	.	.	.	.	.	.	.	.	.	.	C	4.891	0.165533	0.09339	.	.	ENSG00000102317	ENST00000376759;ENST00000376755	T;T	0.74632	-0.86;-0.86	5.05	4.17	0.49024	.	0.406828	0.17473	U	0.173017	T	0.57607	0.2065	L	0.29908	0.895	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.51482	-0.8700	10	0.19147	T	0.46	-10.0799	6.7782	0.23630	0.0:0.7154:0.1801:0.1044	.	104	P98179	RBM3_HUMAN	F	104	ENSP00000365950:S104F;ENSP00000365946:S104F	ENSP00000365946:S104F	S	+	2	0	RBM3	48319746	0.997000	0.39634	0.999000	0.59377	0.978000	0.69477	2.732000	0.47352	2.222000	0.72286	0.513000	0.50165	TCT		0.537	RBM3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060755.1	NM_006743		T	48434802	C	T	48434802	3	4	722	1	0	0	0	0	1	0	0	0	13135	913	32	2	321	2	RBM3	23	48434802	Missense_Mutation	SNP	C	TCGA-KM-8476-01A-11D-2310-10		48434802	106835758	103	40598											
ZCCHC5	203430	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	X	77913571	77913571	+	Missense_Mutation	SNP	G	G	A	rs144237768		TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chrX:77913571G>A	ENST00000321110.1	-	2	642	c.347C>T	c.(346-348)gCg>gTg	p.A116V		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.A116V(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						TGCTGGAGGCGCCAGGGACTC	0.627																																																1	Substitution - Missense(1)	prostate(1)						G	VAL/ALA	1,3834		0,1,1631,571	23	26	25		347	1.8	0	X	dbSNP_134	25	0,6724		0,0,2428,1868	no	missense	ZCCHC5	NM_152694.2	64	0,1,4059,2439	AA,AG,GG,G		0.0,0.0261,0.0095	benign	116/476	77913571	1,10558	2203	4296	6499	SO:0001583	missense	203430			AK096184	CCDS14440.1	Xq13.3	2008-02-05			ENSG00000179300	ENSG00000179300		"Zinc fingers, CCHC domain containing"	22997	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_152694		Approved	FLJ38865, Mar3, Mart3, ZHC5	uc004edc.1	Q8N8U3	OTTHUMG00000021892	ENST00000321110.1:c.347C>T	X.37:g.77913571G>A	ENSP00000316794:p.Ala116Val		B2RMZ0|Q5JQE9	Missense_Mutation	SNP	ENST00000321110.1	37	CCDS14440.1	.	.	.	.	.	.	.	.	.	.	G	9.004	0.980926	0.18812	2.61E-4	0.0	ENSG00000179300	ENST00000321110	T	0.18502	2.21	3.01	1.84	0.25277	.	.	.	.	.	T	0.08626	0.0214	N	0.08118	0	0.09310	N	1	B	0.15719	0.014	B	0.11329	0.006	T	0.31223	-0.9951	9	0.51188	T	0.08	.	7.1902	0.25821	0.0:0.0:0.2253:0.7747	.	116	Q8N8U3	ZCHC5_HUMAN	V	116	ENSP00000316794:A116V	ENSP00000316794:A116V	A	-	2	0	ZCCHC5	77800227	0.000000	0.05858	0.001000	0.08648	0.039000	0.13416	-0.294000	0.08309	0.411000	0.25702	-0.623000	0.04022	GCG		0.627	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057319.1	NM_152694		A	77913571	G	A	77913571	3	1	722	1	0	0	0	0	1	0	0	0	17596	1087	38	1	1084	1	ZCCHC5	23	77913571	Missense_Mutation	SNP	G	TCGA-KM-8476-01A-11D-2310-10	29478769	77913571	77356989	104	40599											
MAGEC1	9947	mdanderson.org	37	X	140994352	140994352	+	Missense_Mutation	SNP	C	C	A	rs113701062		TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chrX:140994352C>A	ENST00000285879.4	+	4	1448	c.1162C>A	c.(1162-1164)Ctt>Att	p.L388I	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	388										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)					TTTACTGAGTCTTTTCCAGAG	0.493										HNSCC(15;0.026)			-|||	52	0.0137748	0.028	0.0115	3775	,	,		13425	0.0		0.005	False		,,,				2504	0.002															0													104	111	109					X																	140994352		2202	4293	6495	SO:0001583	missense	9947			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.1162C>A	X.37:g.140994352C>A	ENSP00000285879:p.Leu388Ile		A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	c	0.007	-1.943046	0.00479	.	.	ENSG00000155495	ENST00000285879	T	0.02345	4.33	.	.	.	.	.	.	.	.	T	0.01353	0.0044	N	0.08118	0	0.09310	N	1	B	0.32829	0.386	B	0.23150	0.044	T	0.43605	-0.9381	8	0.87932	D	0	.	5.684	0.17792	0.0:0.6646:0.3354:0.0	.	388	O60732	MAGC1_HUMAN	I	388	ENSP00000285879:L388I	ENSP00000285879:L388I	L	+	1	0	MAGEC1	140822018	0.009000	0.17119	0.040000	0.18447	0.040000	0.13550	0.074000	0.14662	-1.619000	0.01566	-1.645000	0.00762	CTT		0.493	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		A	140994352	C	A	140994352	3	1	722	1	0	0	0	0	1	0	0	0	9182	913	32	4	1168	4	MAGEC1	23	140994352	Missense_Mutation	SNP	C	TCGA-KM-8476-01A-11D-2310-10	63080781	140994352	14276208	105	40600											
HNRNPCL1	343069	bcgsc.ca	37	1	12907358	12907358	+	Missense_Mutation	SNP	T	T	C	rs74587302|rs559905244	byFrequency	TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr1:12907358T>C	ENST00000317869.6	-	2	1010	c.785A>G	c.(784-786)cAg>cGg	p.Q262R		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	262						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						GTCATCCCCCTGATCTTCATT	0.498																																																0													143	157	152					1																	12907358		2203	4300	6503	SO:0001583	missense	343069			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.785A>G	1.37:g.12907358T>C	ENSP00000365370:p.Gln262Arg		B2RP44	Missense_Mutation	SNP	ENST00000317869.6	37	CCDS30591.1	.	.	.	.	.	.	.	.	.	.	.	0.006	-2.089806	0.00367	.	.	ENSG00000179172	ENST00000317869	T	0.09445	2.98	0.343	-0.686	0.11324	.	2.239460	0.02976	N	0.145045	T	0.04724	0.0128	N	0.02830	-0.485	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.33650	-0.9860	10	0.33940	T	0.23	.	3.9448	0.09344	0.0:0.3889:0.0:0.6111	.	262	O60812	HNRCL_HUMAN	R	262	ENSP00000365370:Q262R	ENSP00000365370:Q262R	Q	-	2	0	HNRNPCL1	12829945	0.213000	0.23551	0.005000	0.12908	0.003000	0.03518	0.096000	0.15147	-0.605000	0.05753	-0.620000	0.04034	CAG		0.498	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631		C	12907358	T	C	12907358	3	2	723	1	0	0	0	0	1	0	0	0	7265	1580	55	3	98	3	HNRNPCL1	1	12907358	Missense_Mutation	SNP	T	TCGA-KM-8477-01A-11D-2310-10		12907358	236343263	1	40601											
RBMXL1	494115	mdanderson.org	37	1	89449135	89449135	+	Silent	SNP	T	T	C			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr1:89449135T>C	ENST00000321792.5	-	2	802	c.375A>G	c.(373-375)cgA>cgG	p.R125R	RBMXL1_ENST00000399794.2_Silent_p.R125R|CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000260508.4_Intron|RBMXL1_ENST00000413769.1_5'UTR|CCBL2_ENST00000370491.3_Intron	NM_019610.5	NP_062556.2	Q96E39	RMXL1_HUMAN	RNA binding motif protein, X-linked-like 1	125					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)										TGTGTCCTCCTCGTGAAGGAG	0.527																																																0													110	118	116					1																	89449135		2203	4300	6503	SO:0001819	synonymous_variant	494115			BC012942	CCDS716.1	1p22.2	2013-02-12	2007-01-04	2007-01-04	ENSG00000213516	ENSG00000213516		"RNA binding motif (RRM) containing"	25073	protein-coding gene	gene with protein product	"kynurenine aminotransferase III"					10441733	Standard	NM_019610		Approved	KAT3	uc001dms.3	Q96E39	OTTHUMG00000010661	ENST00000321792.5:c.375A>G	1.37:g.89449135T>C				Silent	SNP	ENST00000321792.5	37	CCDS716.1																																																																																				0.527	RBMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029403.3	NM_019610		C	89449135	T	C	89449135	2	2	723	1	0	0	0	0	0	0	0	1	13159	1538	54	3		3	RBMXL1	1	89449135	Silent	SNP	T	TCGA-KM-8477-01A-11D-2310-10	76541777	89449135	159801486	2	40602											
CHIA	27159	broad.mit.edu;bcgsc.ca	37	1	111857960	111857960	+	Missense_Mutation	SNP	G	G	A	rs140031055		TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr1:111857960G>A	ENST00000369740.1	+	6	486	c.383G>A	c.(382-384)cGc>cAc	p.R128H	CHIA_ENST00000343320.6_Missense_Mutation_p.R128H|CHIA_ENST00000483391.1_Intron|CHIA_ENST00000430615.1_Missense_Mutation_p.R20H|CHIA_ENST00000451398.2_5'UTR|RP5-1125M8.2_ENST00000426321.1_RNA|CHIA_ENST00000353665.6_Intron	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																																																0								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			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		Q32W79|Q32W80|Q3B866|Q5U5Z5|Q5VUV4|Q86UD8|Q9ULY3|Q9ULY4	Missense_Mutation	SNP	ENST00000369740.1	37	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			A	111857960	G	A	111857960	3	1	723	1	0	0	0	0	1	0	0	0	3344	1087	38	1	401	1	CHIA	1	111857960	Missense_Mutation	SNP	G	TCGA-KM-8477-01A-11D-2310-10	22408825	111857960	137392661	3	40603											
NOTCH2	4853	broad.mit.edu	37	1	120539668	120539668	+	Missense_Mutation	SNP	T	T	A	rs200464440		TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr1:120539668T>A	ENST00000256646.2	-	4	922	c.703A>T	c.(703-705)Acc>Tcc	p.T235S	NOTCH2_ENST00000602566.1_Missense_Mutation_p.T196S	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	235	EGF-like 6. {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)		TGCCGACAGGTGCCTCCATTG	0.572			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome																														Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	0													50	40	43					1																	120539668		2203	4299	6502	SO:0001583	missense	4853	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	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.703A>T	1.37:g.120539668T>A	ENSP00000256646:p.Thr235Ser		Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	CCDS908.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.508758	0.85282	.	.	ENSG00000134250	ENST00000256646;ENST00000539617;ENST00000401649;ENST00000369342	T	0.33438	1.41	5.83	5.83	0.93111	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.38897	U	0.001527	T	0.42471	0.1204	L	0.58510	1.815	0.80722	D	1	P;D;D	0.71674	0.924;0.998;0.965	P;D;P	0.77004	0.585;0.989;0.834	T	0.25082	-1.0142	10	0.41790	T	0.15	.	15.3661	0.74523	0.0:0.0:0.0:1.0	.	196;235;235	D2WEZ3;Q6IQ50;Q04721	.;.;NOTC2_HUMAN	S	235;196;208;196	ENSP00000256646:T235S	ENSP00000256646:T235S	T	-	1	0	NOTCH2	120341191	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.185000	0.72013	2.216000	0.71823	0.477000	0.44152	ACC		0.572	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		A	120539668	T	A	120539668	3	1	723	1	0	0	0	0	1	0	0	0	10550	1696	59	5	6836	5	NOTCH2	1	120539668	Missense_Mutation	SNP	T	TCGA-KM-8477-01A-11D-2310-10	8681708	120539668	128710953	4	40604											
POLR3C	10623	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	145594109	145594109	+	Missense_Mutation	SNP	G	G	T			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr1:145594109G>T	ENST00000334163.3	-	14	1613	c.1453C>A	c.(1453-1455)Caa>Aaa	p.Q485K	POLR3C_ENST00000369294.1_Intron	NM_006468.6	NP_006459.3	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide C (62kD)	485					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|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)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			TCTATTTCTTGTAACTGTGCT	0.438																																																0													241	212	222					1																	145594109		2203	4300	6503	SO:0001583	missense	10623			AJ238234	CCDS72864.1	1q21	2013-01-21			ENSG00000186141	ENSG00000186141		"RNA polymerase subunits"	30076	protein-coding gene	gene with protein product						9171375, 12391170	Standard	NM_006468		Approved	RPC62, RPC3	uc001eoh.3	Q9BUI4	OTTHUMG00000013753	ENST00000334163.3:c.1453C>A	1.37:g.145594109G>T	ENSP00000334564:p.Gln485Lys		O15317|Q9Y3R6	Missense_Mutation	SNP	ENST00000334163.3	37	CCDS921.1	.	.	.	.	.	.	.	.	.	.	G	6.912	0.537952	0.13188	.	.	ENSG00000186141	ENST00000334163	T	0.40756	1.02	5.63	5.63	0.86233	.	0.124751	0.56097	D	0.000040	T	0.12944	0.0314	N	0.22421	0.69	0.80722	D	1	B;B	0.30326	0.2;0.276	B;B	0.22601	0.021;0.04	T	0.05068	-1.0908	10	0.08599	T	0.76	-14.2576	15.1849	0.72993	0.0:0.0:1.0:0.0	.	485;485	Q9BUI4;Q53F76	RPC3_HUMAN;.	K	485	ENSP00000334564:Q485K	ENSP00000334564:Q485K	Q	-	1	0	POLR3C	144305466	1.000000	0.71417	0.513000	0.27749	0.769000	0.43574	4.916000	0.63362	2.665000	0.90641	0.563000	0.77884	CAA		0.438	POLR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038542.1	NM_006468		T	145594109	G	T	145594109	3	4	723	1	0	0	0	0	1	0	0	0	12232	1386	48	4	159	4	POLR3C	1	145594109	Missense_Mutation	SNP	G	TCGA-KM-8477-01A-11D-2310-10	25054441	145594109	103656512	5	40605											
FLG	2312	mdanderson.org	37	1	152280597	152280597	+	Silent	SNP	A	A	G	rs3126077		TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr1:152280597A>G	ENST00000368799.1	-	3	6800	c.6765T>C	c.(6763-6765)gaT>gaC	p.D2255D	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2255	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)			GCCTCTCAGAATCTTCTGAGT	0.582									Ichthyosis																																							0													197	197	197					1																	152280597		2203	4300	6503	SO:0001819	synonymous_variant	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6765T>C	1.37:g.152280597A>G			Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	CCDS30860.1																																																																																				0.582	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		G	152280597	A	G	152280597	2	3	723	1	0	0	0	0	0	0	0	1	5924	98	4	3		3	FLG	1	152280597	Silent	SNP	A	TCGA-KM-8477-01A-11D-2310-10	6686488	152280597	96970024	6	40606											
BIRC6	57448	ucsc.edu	37	2	32617105	32617105	+	Splice_Site	SNP	A	A	G			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr2:32617105A>G	ENST00000421745.2	+	5	973		c.e5-1			NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6						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)					GTTTACTTTTAGATCACTGAT	0.378																																					Pancreas(94;175 1509 16028 18060 45422)											0													48	46	47					2																	32617105		2199	4298	6497	SO:0001630	splice_region_variant	57448			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"Baculoviral IAP repeat containing", "Ubiquitin-conjugating enzymes E2"	13516	protein-coding gene	gene with protein product	"apollon"	605638	"baculoviral IAP repeat-containing 6"			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.840-1A>G	2.37:g.32617105A>G			Q9ULD1	Splice_Site	SNP	ENST00000421745.2	37	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	A	21.0	4.089774	0.76756	.	.	ENSG00000115760	ENST00000421745	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3766	0.83401	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BIRC6	32470609	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	9.180000	0.94867	2.263000	0.75096	0.533000	0.62120	.		0.378	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252	Intron	G	32617105	A	G	32617105	5	3	723	1	0	0	0	0	0	0	1	0	1438	434	15	3	856	3	BIRC6	2	32617105	Splice_Site	SNP	A	TCGA-KM-8477-01A-11D-2310-10		32617105	210582268	7	40607											
DNAH6	1768	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	2	84928427	84928427	+	Silent	SNP	G	G	T			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr2:84928427G>T	ENST00000237449.6	+	48	8033	c.8025G>T	c.(8023-8025)ctG>ctT	p.L2675L	DNAH6_ENST00000389394.3_Silent_p.L2675L			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	2675					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						ATCTTTACCTGTCTATGCTGT	0.423																																																0													138	114	121					2																	84928427		692	1591	2283	SO:0001819	synonymous_variant	1768			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"Axonemal dyneins"	2951	protein-coding gene	gene with protein product		603336	"dynein, axonemal, heavy polypeptide 6", "dynein heavy chain-like 1"	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.8025G>T	2.37:g.84928427G>T			A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Silent	SNP	ENST00000237449.6	37	CCDS46348.1																																																																																				0.423	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370		T	84928427	G	T	84928427	2	4	723	1	0	0	0	0	0	0	0	1	4607	1364	48	4		4	DNAH6	2	84928427	Silent	SNP	G	TCGA-KM-8477-01A-11D-2310-10	52311322	84928427	158270946	8	40608											
LCT	3938	broad.mit.edu	37	2	136555689	136555689	+	Missense_Mutation	SNP	G	G	A			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr2:136555689G>A	ENST00000264162.2	-	13	4896	c.4886C>T	c.(4885-4887)gCa>gTa	p.A1629V		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1629	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)	AATAGGATGTGCAAACCAGCC	0.567											OREG0014998	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													99	90	93					2																	136555689		2203	4300	6503	SO:0001583	missense	3938			X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.4886C>T	2.37:g.136555689G>A	ENSP00000264162:p.Ala1629Val	1626	Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	G	33	5.275201	0.95459	.	.	ENSG00000115850	ENST00000264162	T	0.56275	0.47	5.76	5.76	0.90799	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.051426	0.85682	D	0.000000	T	0.65512	0.2698	M	0.80422	2.495	0.80722	D	1	P	0.38535	0.635	B	0.43536	0.423	T	0.69312	-0.5178	10	0.72032	D	0.01	-9.126	19.9759	0.97304	0.0:0.0:1.0:0.0	.	1629	P09848	LPH_HUMAN	V	1629	ENSP00000264162:A1629V	ENSP00000264162:A1629V	A	-	2	0	LCT	136272159	1.000000	0.71417	0.997000	0.53966	0.886000	0.51366	9.859000	0.99545	2.713000	0.92767	0.655000	0.94253	GCA		0.567	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		A	136555689	G	A	136555689	3	1	723	1	0	0	0	0	1	0	0	0	8695	1319	46	2	917	2	LCT	2	136555689	Missense_Mutation	SNP	G	TCGA-KM-8477-01A-11D-2310-10	51627262	136555689	106643684	9	40609											
FZD7	8324	broad.mit.edu	37	2	202901005	202901005	+	Silent	SNP	C	C	T			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr2:202901005C>T	ENST00000286201.1	+	1	1696	c.1635C>T	c.(1633-1635)ggC>ggT	p.G545G	RP11-107N15.1_ENST00000608741.1_lincRNA	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled class receptor 7	545					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						TCACCACTGGCTTCTGGATCT	0.637											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													56	58	57					2																	202901005		2203	4299	6502	SO:0001819	synonymous_variant	8324			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.1635C>T	2.37:g.202901005C>T		2133	O94816|Q53S59|Q96B74	Silent	SNP	ENST00000286201.1	37	CCDS2351.1																																																																																				0.637	FZD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256314.1	NM_003507		T	202901005	C	T	202901005	2	4	723	1	0	0	0	0	0	0	0	1	6137	784	28	2		2	FZD7	2	202901005	Silent	SNP	C	TCGA-KM-8477-01A-11D-2310-10	66345316	202901005	40298368	10	40610											
PAK2	5062	mdanderson.org	37	3	196529982	196529982	+	Missense_Mutation	SNP	A	A	G	rs78043821	byFrequency	TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr3:196529982A>G	ENST00000327134.3	+	4	705	c.383A>G	c.(382-384)aAg>aGg	p.K128R		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	128	Autoregulatory region. {ECO:0000250}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:2001271)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of defense response to virus by virus (GO:0050690)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activator activity (GO:0030296)			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		GATGTCCTAAAGTTCTACGAC	0.463																																																0													107	95	99					3																	196529982		2203	4300	6503	SO:0001583	missense	5062			U24153	CCDS3321.1	3q29	2008-06-17	2008-06-17			ENSG00000180370	2.7.11.1		8591	protein-coding gene	gene with protein product	"S6/H4 kinase"	605022	"p21 (CDKN1A)-activated kinase 2"			7744004, 7618083	Standard	NM_002577		Approved	PAK65, PAKgamma	uc003fwy.4	Q13177		ENST00000327134.3:c.383A>G	3.37:g.196529982A>G	ENSP00000314067:p.Lys128Arg		Q13154|Q6ISC3	Missense_Mutation	SNP	ENST00000327134.3	37	CCDS3321.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.176399	0.78564	.	.	ENSG00000180370	ENST00000327134	D	0.86230	-2.09	5.27	5.27	0.74061	PAK-box/P21-Rho-binding (1);	0.000000	0.85682	D	0.000000	D	0.86990	0.6066	L	0.55743	1.74	0.80722	D	1	P	0.37015	0.578	B	0.43155	0.41	D	0.86926	0.2070	10	0.48119	T	0.1	.	14.3609	0.66771	1.0:0.0:0.0:0.0	.	128	Q13177	PAK2_HUMAN	R	128	ENSP00000314067:K128R	ENSP00000314067:K128R	K	+	2	0	PAK2	198014379	1.000000	0.71417	0.990000	0.47175	0.859000	0.49053	6.986000	0.76200	2.002000	0.58637	0.460000	0.39030	AAG		0.463	PAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340548.1	NM_002577		G	196529982	A	G	196529982	3	3	723	1	0	0	0	0	1	0	0	0	11403	72	3	3	393	3	PAK2	3	196529982	Missense_Mutation	SNP	A	TCGA-KM-8477-01A-11D-2310-10		196529982	1492448	11	40611											
WDFY3	23001	broad.mit.edu	37	4	85630103	85630103	+	Missense_Mutation	SNP	A	A	G			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr4:85630103A>G	ENST00000295888.4	-	53	8583	c.8176T>C	c.(8176-8178)Tat>Cat	p.Y2726H	WDFY3_ENST00000322366.6_Missense_Mutation_p.Y2709H	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2726	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.|Interaction with SQSTM1.|Sufficient for translocalization to p62 bodies/ALIS.				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)		AAGACAGGATACTGCATGAGA	0.338																																																0													102	104	103					4																	85630103		2203	4300	6503	SO:0001583	missense	23001			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.8176T>C	4.37:g.85630103A>G	ENSP00000295888:p.Tyr2726His		Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.629736	0.87660	.	.	ENSG00000163625	ENST00000322366;ENST00000295888;ENST00000514711	D;D;D	0.90955	-2.76;-2.76;-2.76	5.41	5.41	0.78517	BEACH domain (4);	0.114190	0.64402	D	0.000008	D	0.94456	0.8216	M	0.67953	2.075	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.94834	0.7999	10	0.66056	D	0.02	.	15.6304	0.76904	1.0:0.0:0.0:0.0	.	2726	Q8IZQ1	WDFY3_HUMAN	H	2709;2726;329	ENSP00000318466:Y2709H;ENSP00000295888:Y2726H;ENSP00000424987:Y329H	ENSP00000295888:Y2726H	Y	-	1	0	WDFY3	85849127	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.083000	0.94067	2.279000	0.76181	0.528000	0.53228	TAT		0.338	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		G	85630103	A	G	85630103	3	3	723	1	0	0	0	0	1	0	0	0	17275	391	14	3	2468	3	WDFY3	4	85630103	Missense_Mutation	SNP	A	TCGA-KM-8477-01A-11D-2310-10		85630103	105524173	12	40612											
CEP72	55722	hgsc.bcm.edu	37	5	612536	612536	+	Silent	SNP	C	C	T	rs545143344	byFrequency	TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr5:612536C>T	ENST00000264935.5	+	1	150	c.60C>T	c.(58-60)ggC>ggT	p.G20G	CEP72_ENST00000444221.1_Silent_p.G20G|RP11-310P5.1_ENST00000506629.1_RNA	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	20					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)			CGAAGAGCGGCTTAGGGCCTC	0.771													C|||	27	0.00539137	0.0197	0.0014	5008	,	,		5075	0.0		0.0	False		,,,				2504	0.0															0													4	4	4					5																	612536		1488	2785	4273	SO:0001819	synonymous_variant	55722			BC000132	CCDS34126.1	5p15.33	2014-02-20			ENSG00000112877	ENSG00000112877			25547	protein-coding gene	gene with protein product						10819331	Standard	NM_018140		Approved	KIAA1519, FLJ10565	uc003jbf.3	Q9P209	OTTHUMG00000161745	ENST00000264935.5:c.60C>T	5.37:g.612536C>T			B4DR26|Q9BV03|Q9BWM3|Q9NVR4	Silent	SNP	ENST00000264935.5	37	CCDS34126.1																																																																																				0.771	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365967.3	NM_018140		T	612536	C	T	612536	2	4	723	1	0	0	0	0	0	0	0	1	3262	784	28	2		2	CEP72	5	612536	Silent	SNP	C	TCGA-KM-8477-01A-11D-2310-10		612536	180302724	13	40613											
RXFP3	51289	broad.mit.edu	37	5	33937368	33937368	+	Missense_Mutation	SNP	G	G	A			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr5:33937368G>A	ENST00000330120.3	+	1	878	c.523G>A	c.(523-525)Gcc>Acc	p.A175T		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	175					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|G-protein coupled receptor activity (GO:0004930)			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						CTTCCTCACTGCCATGAGTGT	0.617																																																0													92	88	89					5																	33937368		2203	4300	6503	SO:0001583	missense	51289			D88437	CCDS3900.1	5p15.1-p14	2012-08-08	2006-05-09	2006-03-15	ENSG00000182631	ENSG00000182631		"GPCR / Class A : Relaxin family peptide receptors"	24883	protein-coding gene	gene with protein product		609445	"relaxin 3 receptor 1", "relaxin family peptide receptor 3"	RLN3R1		15956688, 16507880	Standard	NM_016568		Approved	SALPR, GPCR135, RXFPR3	uc003jic.2	Q9NSD7	OTTHUMG00000090685	ENST00000330120.3:c.523G>A	5.37:g.33937368G>A	ENSP00000328708:p.Ala175Thr		Q14DA5	Missense_Mutation	SNP	ENST00000330120.3	37	CCDS3900.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.315132	0.81358	.	.	ENSG00000182631	ENST00000330120	T	0.19806	2.12	5.53	1.51	0.23008	GPCR, rhodopsin-like superfamily (1);	0.161807	0.53938	D	0.000044	T	0.42787	0.1218	M	0.85462	2.755	0.41941	D	0.990619	P	0.38250	0.624	P	0.52758	0.708	T	0.33879	-0.9851	10	0.37606	T	0.19	-20.1582	13.2994	0.60315	0.0:0.0959:0.7683:0.1358	.	175	Q9NSD7	RL3R1_HUMAN	T	175	ENSP00000328708:A175T	ENSP00000328708:A175T	A	+	1	0	RXFP3	33973125	1.000000	0.71417	0.685000	0.30070	0.955000	0.61496	3.155000	0.50700	-0.026000	0.13895	0.650000	0.86243	GCC		0.617	RXFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207369.1	NM_016568		A	33937368	G	A	33937368	3	1	723	1	0	0	0	0	1	0	0	0	13767	1319	46	2	525	2	RXFP3	5	33937368	Missense_Mutation	SNP	G	TCGA-KM-8477-01A-11D-2310-10	33324832	33937368	146977892	14	40614											
LRRTM2	26045	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	5	138209476	138209476	+	Silent	SNP	T	T	G			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr5:138209476T>G	ENST00000274711.6	-	2	1152	c.774A>C	c.(772-774)ctA>ctC	p.L258L	LRRTM2_ENST00000523537.1_5'Flank|LRRTM2_ENST00000518785.1_3'UTR|CTNNA1_ENST00000355078.5_Intron|CTNNA1_ENST00000302763.7_Intron|CTNNA1_ENST00000520400.1_Intron|CTNNA1_ENST00000518825.1_Intron|CTNNA1_ENST00000540387.1_5'Flank|LRRTM2_ENST00000521094.2_Intron	NM_015564.2	NP_056379.1	O43300	LRRT2_HUMAN	leucine rich repeat transmembrane neuronal 2	258					long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|synapse organization (GO:0050808)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|urinary_tract(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CAGTCAGGTCTAGCTTTTCTA	0.438																																																0													311	303	306					5																	138209476		1926	4143	6069	SO:0001819	synonymous_variant	26045			AB007876	CCDS47272.1	5q31	2008-02-05				ENSG00000146006			19409	protein-coding gene	gene with protein product		610868				12676565	Standard	NM_015564		Approved	KIAA0416	uc011cyz.1	O43300		ENST00000274711.6:c.774A>C	5.37:g.138209476T>G			A0AVL3|A8K4U9|B7ZLN8|Q7L770	Silent	SNP	ENST00000274711.6	37	CCDS47272.1																																																																																				0.438	LRRTM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374043.2			G	138209476	T	G	138209476	2	3	723	1	0	0	0	0	0	0	0	1	9042	1509	53	5		5	LRRTM2	5	138209476	Silent	SNP	T	TCGA-KM-8477-01A-11D-2310-10	104272108	138209476	42705784	15	40615											
GTF2H4	2968	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	6	30879492	30879492	+	Missense_Mutation	SNP	T	T	A			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr6:30879492T>A	ENST00000259895.4	+	9	996	c.773T>A	c.(772-774)cTg>cAg	p.L258Q	GTF2H4_ENST00000539324.1_Missense_Mutation_p.L202Q|GTF2H4_ENST00000376316.2_Missense_Mutation_p.L258Q|VARS2_ENST00000542001.1_5'Flank|VARS2_ENST00000321897.5_5'Flank|VARS2_ENST00000416670.2_5'Flank|VARS2_ENST00000541562.1_5'Flank	NM_001517.4	NP_001508.1	Q92759	TF2H4_HUMAN	general transcription factor IIH, polypeptide 4, 52kDa	258					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						AGTGATTCTCTGTTGAACTTC	0.498								Nucleotide excision repair (NER)																																								0													117	109	111					6																	30879492		1511	2709	4220	SO:0001583	missense	2968			Y07595	CCDS34386.1	6p21.3	2012-11-05	2002-08-29		ENSG00000213780	ENSG00000213780		"General transcription factors", "General transcription factor IIH complex subunits"	4658	protein-coding gene	gene with protein product		601760	"general transcription factor IIH, polypeptide 4 (52kD subunit)"			9118947	Standard	NM_001517		Approved	TFB2, TFIIH, P52	uc003nsa.1	Q92759	OTTHUMG00000031043	ENST00000259895.4:c.773T>A	6.37:g.30879492T>A	ENSP00000259895:p.Leu258Gln		B4DTJ5|Q76KU4	Missense_Mutation	SNP	ENST00000259895.4	37	CCDS34386.1	.	.	.	.	.	.	.	.	.	.	T	15.75	2.925877	0.52759	.	.	ENSG00000213780	ENST00000259895;ENST00000539324;ENST00000376316	T;T;T	0.35789	1.29;1.29;1.29	5.42	5.42	0.78866	.	0.000000	0.56097	U	0.000028	T	0.07728	0.0194	N	0.05230	-0.09	0.80722	D	1	P;P;P;P	0.40681	0.727;0.528;0.528;0.528	B;B;B;B	0.37601	0.254;0.214;0.214;0.214	T	0.11991	-1.0565	10	0.10377	T	0.69	0.0	13.4215	0.61001	0.0:0.0:0.0:1.0	.	264;202;258;258	B4DNU0;B4DTJ5;Q53HH3;Q92759	.;.;.;TF2H4_HUMAN	Q	258;202;258	ENSP00000259895:L258Q;ENSP00000442700:L202Q;ENSP00000365493:L258Q	ENSP00000259895:L258Q	L	+	2	0	GTF2H4	30987471	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.389000	0.79806	2.050000	0.60909	0.533000	0.62120	CTG		0.498	GTF2H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076044.3	NM_001517		A	30879492	T	A	30879492	3	1	723	1	0	0	0	0	1	0	0	0	6867	1580	55	5	803	5	GTF2H4	6	30879492	Missense_Mutation	SNP	T	TCGA-KM-8477-01A-11D-2310-10		30879492	140235575	16	40616											
DDX56	54606	broad.mit.edu	37	7	44611269	44611269	+	Missense_Mutation	SNP	A	A	G			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr7:44611269A>G	ENST00000258772.5	-	6	818	c.712T>C	c.(712-714)Tgt>Cgt	p.C238R	DDX56_ENST00000485367.1_5'UTR|DDX56_ENST00000431640.1_Missense_Mutation_p.C238R	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56	238	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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						TCAGTCTCACAGACCACCTGA	0.522																																																0													81	70	73					7																	44611269		2203	4300	6503	SO:0001583	missense	54606			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.712T>C	7.37:g.44611269A>G	ENSP00000258772:p.Cys238Arg		A4D2K9|C9JV95|Q6IAE2|Q9H9I8	Missense_Mutation	SNP	ENST00000258772.5	37	CCDS5492.1	.	.	.	.	.	.	.	.	.	.	.	23.3	4.403569	0.83230	.	.	ENSG00000136271	ENST00000258772;ENST00000431640	T;T	0.04119	3.7;3.75	5.82	5.82	0.92795	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.19525	0.0469	M	0.76938	2.355	0.80722	D	1	D;D	0.69078	0.985;0.997	D;P	0.64237	0.923;0.887	T	0.00391	-1.1769	10	0.41790	T	0.15	-11.8194	14.1208	0.65186	1.0:0.0:0.0:0.0	.	238;238	C9JV95;Q9NY93	.;DDX56_HUMAN	R	238	ENSP00000258772:C238R;ENSP00000393488:C238R	ENSP00000258772:C238R	C	-	1	0	DDX56	44577794	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.718000	0.74713	2.214000	0.71695	0.460000	0.39030	TGT		0.522	DDX56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251291.1	NM_019082		G	44611269	A	G	44611269	3	3	723	1	0	0	0	0	1	0	0	0	4376	188	7	3	967	3	DDX56	7	44611269	Missense_Mutation	SNP	A	TCGA-KM-8477-01A-11D-2310-10		44611269	114527394	17	40617											
ASB4	51666	broad.mit.edu	37	7	95166910	95166910	+	Missense_Mutation	SNP	T	T	C			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr7:95166910T>C	ENST00000325885.5	+	5	1191	c.1120T>C	c.(1120-1122)Ttt>Ctt	p.F374L		NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	374	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|positive regulation of vasculogenesis (GO:2001214)|protein autoubiquitination (GO:0051865)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			CCACTCTCTCTTTACTGTGTG	0.398																																																0													166	156	160					7																	95166910		2203	4300	6503	SO:0001583	missense	51666			AF156779	CCDS5641.1, CCDS5642.1	7q21-q22	2013-01-10	2011-01-25		ENSG00000005981	ENSG00000005981		"Ankyrin repeat domain containing"	16009	protein-coding gene	gene with protein product		605761	"ankyrin repeat and SOCS box-containing 4"				Standard	NM_145872		Approved	ASB-4	uc011kij.2	Q9Y574	OTTHUMG00000153960	ENST00000325885.5:c.1120T>C	7.37:g.95166910T>C	ENSP00000321388:p.Phe374Leu		A4D1H6|O14586|Q14D68|Q8TBT2	Missense_Mutation	SNP	ENST00000325885.5	37	CCDS5641.1	.	.	.	.	.	.	.	.	.	.	T	17.97	3.518046	0.64634	.	.	ENSG00000005981	ENST00000325885	T	0.27256	1.68	5.05	5.05	0.67936	.	0.120873	0.64402	D	0.000010	T	0.32436	0.0829	L	0.39514	1.22	0.80722	D	1	P	0.51147	0.942	P	0.51016	0.656	T	0.03221	-1.1059	10	0.46703	T	0.11	-31.2114	15.1364	0.72569	0.0:0.0:0.0:1.0	.	374	Q9Y574	ASB4_HUMAN	L	374	ENSP00000321388:F374L	ENSP00000321388:F374L	F	+	1	0	ASB4	95004846	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	6.071000	0.71229	2.039000	0.60335	0.533000	0.62120	TTT		0.398	ASB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333225.2	NM_016116		C	95166910	T	C	95166910	3	2	723	1	0	0	0	0	1	0	0	0	1025	1609	56	3	1210	3	ASB4	7	95166910	Missense_Mutation	SNP	T	TCGA-KM-8477-01A-11D-2310-10	50555641	95166910	63971753	18	40618											
AHCYL2	23382	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	7	129037098	129037098	+	Missense_Mutation	SNP	G	G	T			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr7:129037098G>T	ENST00000325006.3	+	5	810	c.756G>T	c.(754-756)caG>caT	p.Q252H	AHCYL2_ENST00000490911.1_Missense_Mutation_p.Q149H|AHCYL2_ENST00000472554.1_3'UTR|AHCYL2_ENST00000446544.2_Missense_Mutation_p.Q251H|AHCYL2_ENST00000531335.2_Missense_Mutation_p.Q171H|AHCYL2_ENST00000446212.1_Missense_Mutation_p.Q150H|AHCYL2_ENST00000474594.1_Missense_Mutation_p.Q149H	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	252					one-carbon metabolic process (GO:0006730)		adenosylhomocysteinase activity (GO:0004013)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						TGGGGGCCCAGTGCCGATGGG	0.493																																					Pancreas(160;1736 1964 29875 40941 45605)											0													97	95	96					7																	129037098		2203	4300	6503	SO:0001583	missense	23382			AB020635	CCDS5812.1, CCDS47706.1, CCDS47707.1, CCDS47708.1, CCDS47707.2	7q32.1	2009-06-12	2009-06-12		ENSG00000158467	ENSG00000158467			22204	protein-coding gene	gene with protein product			"S-adenosylhomocysteine hydrolase-like 2"				Standard	NM_001130720		Approved	KIAA0828	uc011kov.2	Q96HN2	OTTHUMG00000157677	ENST00000325006.3:c.756G>T	7.37:g.129037098G>T	ENSP00000315931:p.Gln252His		B4DIZ5|D9N155|O94917	Missense_Mutation	SNP	ENST00000325006.3	37	CCDS5812.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.2|27.2	4.812740|4.812740	0.90707|0.90707	.|.	.|.	ENSG00000158467|ENSG00000158467	ENST00000325006;ENST00000446544;ENST00000531335;ENST00000474594;ENST00000446212;ENST00000490911;ENST00000466993|ENST00000466924	T;T;T;T;T;T;T|.	0.77620|.	-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.08|.	5.27|5.27	5.27|5.27	0.74061|0.74061	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83977|0.83977	0.5371|0.5371	M|M	0.89214|0.89214	3.015|3.015	0.58432|0.58432	D|D	0.999997|0.999997	P;P;P;P;P|.	0.52577|.	0.878;0.878;0.954;0.878;0.943|.	P;P;P;P;P|.	0.57009|.	0.71;0.71;0.811;0.71;0.713|.	D|D	0.86448|0.86448	0.1771|0.1771	10|5	0.87932|.	D|.	0|.	-9.8208|-9.8208	17.8185|17.8185	0.88643|0.88643	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	149;150;252;149;251|.	B4DIZ5;D7UEQ7;Q96HN2;D9N155;Q96HN2-2|.	.;.;SAHH3_HUMAN;.;.|.	H|I	252;251;171;149;150;149;150|159	ENSP00000315931:Q252H;ENSP00000413639:Q251H;ENSP00000431787:Q171H;ENSP00000420459:Q149H;ENSP00000405267:Q150H;ENSP00000420801:Q149H;ENSP00000419608:Q150H|.	ENSP00000315931:Q252H|.	Q|S	+|+	3|2	2|0	AHCYL2|AHCYL2	128824334|128824334	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	5.386000|5.386000	0.66238|0.66238	2.631000|2.631000	0.89168|0.89168	0.650000|0.650000	0.86243|0.86243	CAG|AGT		0.493	AHCYL2-012	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354065.1			T	129037098	G	T	129037098	3	4	723	1	0	0	0	0	1	0	0	0	411	1020	36	4	896	4	AHCYL2	7	129037098	Missense_Mutation	SNP	G	TCGA-KM-8477-01A-11D-2310-10	33870188	129037098	30101565	19	40619											
EBF2	64641	broad.mit.edu	37	8	25744302	25744302	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr8:25744302G>T	ENST00000520164.1	-	10	1515	c.978C>A	c.(976-978)tgC>tgA	p.C326*	EBF2_ENST00000408929.3_Nonsense_Mutation_p.C178*|EBF2_ENST00000535548.1_Nonsense_Mutation_p.C57*	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	326	IPT/TIG.				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)		GGGCTCCTTTGCAGAACTGTT	0.493																																					Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)											0													100	96	98					8																	25744302		1860	4106	5966	SO:0001587	stop_gained	64641			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.978C>A	8.37:g.25744302G>T	ENSP00000430241:p.Cys326*		A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	Nonsense_Mutation	SNP	ENST00000520164.1	37	CCDS43726.1	.	.	.	.	.	.	.	.	.	.	G	41	9.069919	0.99055	.	.	ENSG00000221818	ENST00000520164;ENST00000408929;ENST00000535548	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.803	19.5831	0.95478	0.0:0.0:1.0:0.0	.	.	.	.	X	326;178;57	.	ENSP00000386178:C178X	C	-	3	2	EBF2	25800219	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.479000	0.66813	2.641000	0.89580	0.563000	0.77884	TGC		0.493	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375886.2	NM_022659		T	25744302	G	T	25744302	4	4	723	1	0	0	0	0	0	1	0	0	4883	1311	46	4	777	4	EBF2	8	25744302	Nonsense_Mutation	SNP	G	TCGA-KM-8477-01A-11D-2310-10		25744302	120619720	20	40620											
RDH10	157506	broad.mit.edu	37	8	74235228	74235228	+	Missense_Mutation	SNP	G	G	A			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr8:74235228G>A	ENST00000240285.5	+	6	1661	c.983G>A	c.(982-984)aGa>aAa	p.R328K	RP11-434I12.2_ENST00000514599.1_RNA|RP11-434I12.2_ENST00000517475.1_RNA|RDH10_ENST00000519380.1_Missense_Mutation_p.R163K	NM_172037.4	NP_742034.1	Q8IZV5	RDH10_HUMAN	retinol dehydrogenase 10 (all-trans)	328					bud elongation involved in lung branching (GO:0060449)|ear development (GO:0043583)|embryonic camera-type eye development (GO:0031076)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|gonad development (GO:0008406)|in utero embryonic development (GO:0001701)|metanephros development (GO:0001656)|neural crest cell development (GO:0014032)|nose development (GO:0043584)|phototransduction, visible light (GO:0007603)|primary lung bud formation (GO:0060431)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	cell body (GO:0044297)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	11	Breast(64;0.0954)		Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)			ATTGCTCAAAGAAAGCAAGCC	0.383																																																0													65	59	61					8																	74235228		2203	4300	6503	SO:0001583	missense	157506			AF456765	CCDS6213.1	8q21.11	2011-09-20			ENSG00000121039	ENSG00000121039	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	19975	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 16C, member 4"	607599				12407145, 19027726	Standard	NM_172037		Approved	SDR16C4	uc003xzi.3	Q8IZV5	OTTHUMG00000164492	ENST00000240285.5:c.983G>A	8.37:g.74235228G>A	ENSP00000240285:p.Arg328Lys			Missense_Mutation	SNP	ENST00000240285.5	37	CCDS6213.1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.600327	0.28534	.	.	ENSG00000121039	ENST00000240285;ENST00000519380	D;T	0.83837	-1.77;0.03	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.69602	0.3129	N	0.16201	0.385	0.49389	D	0.999784	B	0.18166	0.026	B	0.12837	0.008	T	0.65541	-0.6143	10	0.02654	T	1	.	19.7069	0.96076	0.0:0.0:1.0:0.0	.	328	Q8IZV5	RDH10_HUMAN	K	328;163	ENSP00000240285:R328K;ENSP00000428132:R163K	ENSP00000240285:R328K	R	+	2	0	RDH10	74397782	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	7.743000	0.85020	2.894000	0.99253	0.591000	0.81541	AGA		0.383	RDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378982.1			A	74235228	G	A	74235228	3	1	723	1	0	0	0	0	1	0	0	0	13195	942	33	2	1005	2	RDH10	8	74235228	Missense_Mutation	SNP	G	TCGA-KM-8477-01A-11D-2310-10	48490926	74235228	72128794	21	40621											
NCALD	83988	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	8	102705065	102705065	+	Silent	SNP	C	C	T			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr8:102705065C>T	ENST00000311028.3	-	6	816	c.438G>A	c.(436-438)gaG>gaA	p.E146E	NCALD_ENST00000521599.1_Silent_p.E146E|NCALD_ENST00000395923.1_Silent_p.E146E|NCALD_ENST00000519508.2_Silent_p.E146E|NCALD_ENST00000220931.6_Silent_p.E146E|NCALD_ENST00000522951.1_Silent_p.E146E	NM_001040624.1|NM_001040626.1	NP_001035714.1|NP_001035716.1	P61601	NCALD_HUMAN	neurocalcin delta	146	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium-mediated signaling (GO:0019722)|regulation of systemic arterial blood pressure (GO:0003073)|synaptic transmission (GO:0007268)|vesicle-mediated transport (GO:0016192)	clathrin coat of trans-Golgi network vesicle (GO:0030130)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|tubulin binding (GO:0015631)			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)			CTGTTCTTTTCTCTGGGGTTG	0.493																																																0													166	155	159					8																	102705065		2203	4300	6503	SO:0001819	synonymous_variant	83988			AF052142	CCDS6292.1	8q22.3	2014-08-12			ENSG00000104490	ENSG00000104490		"EF-hand domain containing"	7655	protein-coding gene	gene with protein product		606722				11267673	Standard	XM_006716672		Approved		uc003ykk.3	P61601	OTTHUMG00000164876	ENST00000311028.3:c.438G>A	8.37:g.102705065C>T			P29554|Q8IYC3|Q9H0W2	Silent	SNP	ENST00000311028.3	37	CCDS6292.1																																																																																				0.493	NCALD-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380732.2			T	102705065	C	T	102705065	2	4	723	1	0	0	0	0	0	0	0	1	10203	912	32	2		2	NCALD	8	102705065	Silent	SNP	C	TCGA-KM-8477-01A-11D-2310-10	28469837	102705065	43658957	22	40622											
DPYS	1807	mdanderson.org	37	8	105478933	105478933	+	Silent	SNP	G	G	A	rs2298840	byFrequency	TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr8:105478933G>A	ENST00000351513.2	-	1	348	c.216C>T	c.(214-216)ttC>ttT	p.F72F		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	72					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)			CCATGAAGGGGAACTGCATGT	0.736													G|||	1160	0.231629	0.2867	0.2133	5008	,	,		9267	0.3085		0.175	False		,,,				2504	0.1493															0								G		728,2942		64,600,1171	18	11	14		216	3	1	8	dbSNP_100	14	1026,5972		73,880,2546	no	coding-synonymous	DPYS	NM_001385.2		137,1480,3717	AA,AG,GG		14.6613,19.8365,16.4417		72/520	105478933	1754,8914	1835	3499	5334	SO:0001819	synonymous_variant	1807			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.216C>T	8.37:g.105478933G>A				Silent	SNP	ENST00000351513.2	37	CCDS6302.1																																																																																				0.736	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	NM_001385		A	105478933	G	A	105478933	2	1	723	1	0	0	0	0	0	0	0	1	4748	1165	41	2		2	DPYS	8	105478933	Silent	SNP	G	TCGA-KM-8477-01A-11D-2310-10	2773868	105478933	40885089	23	40623											
PRUNE2	158471	hgsc.bcm.edu	37	9	79324154	79324154	+	Silent	SNP	A	A	T			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr9:79324154A>T	ENST00000376718.3	-	8	3159	c.3036T>A	c.(3034-3036)ccT>ccA	p.P1012P	PRUNE2_ENST00000428286.1_Silent_p.P653P	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1012					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						GCAGTGACTGAGGAGGAATGT	0.443																																																0													121	94	102					9																	79324154		1568	3582	5150	SO:0001819	synonymous_variant	158471			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.3036T>A	9.37:g.79324154A>T			B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Silent	SNP	ENST00000376718.3	37	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	A	8.946	0.967023	0.18659	.	.	ENSG00000106772	ENST00000426088	.	.	.	5.94	-4.91	0.03085	.	.	.	.	.	T	0.19927	0.0479	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.27262	-1.0079	4	.	.	.	-1.3206	4.1748	0.10346	0.1906:0.3724:0.3387:0.0983	.	.	.	.	T	334	.	.	S	-	1	0	PRUNE2	78513974	.	.	0.000000	0.03702	0.268000	0.26511	.	.	-1.189000	0.02702	0.459000	0.35465	TCA		0.443	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		T	79324154	A	T	79324154	2	4	723	1	0	0	0	0	0	0	0	1	12646	291	11	5		5	PRUNE2	9	79324154	Silent	SNP	A	TCGA-KM-8477-01A-11D-2310-10		79324154	61889277	24	40624											
PTPN3	5774	broad.mit.edu	37	9	112219611	112219612	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	AT	AT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr9:112219611_112219612delAT	ENST00000374541.2	-	3	310_311	c.206_207delAT	c.(205-207)tatfs	p.Y69fs	PTPN3_ENST00000262539.3_5'UTR	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	69	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				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						GTAAACCAAAATATTCCTTTTC	0.401																																																0																																										SO:0001589	frameshift_variant	5774				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.206_207delAT	9.37:g.112219613_112219614delAT	ENSP00000363667:p.Tyr69fs		A0AUW9|E7EN99|E9PGU7	Frame_Shift_Del	DEL	ENST00000374541.2	37	CCDS6776.1																																																																																				0.401	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4			-	112219612	AT	-	112219611	7	5	723	1	0	1	0	1	0	0	0	0	12795	108	4	0	2630	0	PTPN3	9	112219611	Frame_Shift_Del	DEL	AT	TCGA-KM-8477-01A-11D-2310-10	32895457	112219611	28993820	25	40625	356	2									
PTPN3	5774	bcgsc.ca	37	9	112219612	112219613	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	AT	AT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr9:112219612_112219613delAT	ENST00000374541.2	-	3	309_310	c.205_206delAT	c.(205-207)attfs	p.I69fs	PTPN3_ENST00000262539.3_5'UTR	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	69	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				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						TAAACCAAAATATTCCTTTTCA	0.406																																																0																																										SO:0001589	frameshift_variant	5774				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.205_206delAT	9.37:g.112219612_112219613delAT	ENSP00000363667:p.Ile69fs		A0AUW9|E7EN99|E9PGU7	Frame_Shift_Del	DEL	ENST00000374541.2	37	CCDS6776.1																																																																																				0.406	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4			-	112219613	AT	-	112219612	7	5	723	1	0	1	0	1	0	0	0	0	12795	1406	49	0	2631	0	PTPN3	9	112219612	Frame_Shift_Del	DEL	AT	TCGA-KM-8477-01A-11D-2310-10	1	112219612	28993819	26	40626	356	2									
C10orf71	118461	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	10	50533936	50533936	+	Missense_Mutation	SNP	G	G	A			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr10:50533936G>A	ENST00000374144.3	+	3	3634	c.3346G>A	c.(3346-3348)Gcc>Acc	p.A1116T	C10orf71_ENST00000323868.4_Intron			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	1116										endometrium(1)	1						CCTGACCCACGCCCTCGTGTG	0.657																																																0													19	24	23					10																	50533936		692	1591	2283	SO:0001583	missense	118461			AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.3346G>A	10.37:g.50533936G>A	ENSP00000363259:p.Ala1116Thr		A0AVL8	Missense_Mutation	SNP	ENST00000374144.3	37	CCDS44387.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.284061	0.80803	.	.	ENSG00000177354	ENST00000374144	T	0.04970	3.52	5.38	3.52	0.40303	.	0.647217	0.12708	N	0.445729	T	0.05960	0.0155	L	0.27053	0.805	0.09310	N	0.999991	.	.	.	.	.	.	T	0.39502	-0.9611	8	0.45353	T	0.12	.	5.1637	0.15075	0.2522:0.164:0.5838:0.0	.	.	.	.	T	1116	ENSP00000363259:A1116T	ENSP00000363259:A1116T	A	+	1	0	C10orf71	50203942	0.688000	0.27680	0.115000	0.21578	0.504000	0.33889	1.462000	0.35266	0.651000	0.30788	0.491000	0.48974	GCC		0.657	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		A	50533936	G	A	50533936	3	1	723	1	0	0	0	0	1	0	0	0	1616	1087	38	1	3348	1	C10orf71	10	50533936	Missense_Mutation	SNP	G	TCGA-KM-8477-01A-11D-2310-10		50533936	85000811	27	40627											
MYPN	84665	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	10	69881358	69881358	+	Missense_Mutation	SNP	G	G	A			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr10:69881358G>A	ENST00000358913.5	+	2	651	c.163G>A	c.(163-165)Gga>Aga	p.G55R	MYPN_ENST00000540630.1_Missense_Mutation_p.G55R|MYPN_ENST00000373675.3_Missense_Mutation_p.G55R|MYPN_ENST00000354393.2_Intron	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	55	Interaction with CARP.|Poly-Gly.				sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						TGAAGGAGGCGGAGGCCAAGA	0.527																																																0													54	53	53					10																	69881358		2203	4300	6503	SO:0001583	missense	84665			AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"Immunoglobulin superfamily / I-set domain containing"	23246	protein-coding gene	gene with protein product	"sarcomeric protein myopalladin, 145 kDa"	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.163G>A	10.37:g.69881358G>A	ENSP00000351790:p.Gly55Arg		Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	ENST00000358913.5	37	CCDS7275.1	.	.	.	.	.	.	.	.	.	.	G	6.927	0.540685	0.13250	.	.	ENSG00000138347	ENST00000358913;ENST00000540630;ENST00000373675	T;T;T	0.60920	0.52;0.5;0.15	6.03	5.12	0.69794	.	0.388870	0.27886	N	0.017449	T	0.37999	0.1024	N	0.16478	0.41	0.09310	N	1	B;B	0.21381	0.055;0.033	B;B	0.12156	0.007;0.003	T	0.11060	-1.0603	9	.	.	.	.	11.0662	0.47976	0.0689:0.1304:0.8007:0.0	.	55;55	Q86TC9-3;Q86TC9	.;MYPN_HUMAN	R	55	ENSP00000351790:G55R;ENSP00000441668:G55R;ENSP00000362779:G55R	.	G	+	1	0	MYPN	69551364	0.999000	0.42202	0.999000	0.59377	0.682000	0.39822	3.009000	0.49552	2.861000	0.98227	0.655000	0.94253	GGA		0.527	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		A	69881358	G	A	69881358	3	1	723	1	0	0	0	0	1	0	0	0	10100	1117	39	1	165	1	MYPN	10	69881358	Missense_Mutation	SNP	G	TCGA-KM-8477-01A-11D-2310-10	19347422	69881358	65653389	28	40628											
TET1	80312	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	10	70426913	70426913	+	Missense_Mutation	SNP	A	A	G			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr10:70426913A>G	ENST00000373644.4	+	7	4782	c.4573A>G	c.(4573-4575)Atc>Gtc	p.I1525V		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1525					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GTGGGATGGCATCCCTCTTCC	0.502																																																0													118	97	104					10																	70426913		2203	4300	6503	SO:0001583	missense	80312			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"leukemia-associated protein with a CXXC domain", "ten-eleven translocation-1"	607790	"CXXC zinc finger 6", "tet oncogene 1"	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.4573A>G	10.37:g.70426913A>G	ENSP00000362748:p.Ile1525Val		Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	A	16.16	3.045305	0.55110	.	.	ENSG00000138336	ENST00000373644	T	0.33654	1.4	5.21	2.83	0.33086	TET cysteine-rich domain (1);	0.062135	0.64402	D	0.000005	T	0.45597	0.1350	L	0.39326	1.205	0.33750	D	0.620563	D	0.63046	0.992	D	0.80764	0.994	T	0.56517	-0.7966	10	0.87932	D	0	.	7.197	0.25858	0.7982:0.0:0.0714:0.1304	.	1525	Q8NFU7	TET1_HUMAN	V	1525	ENSP00000362748:I1525V	ENSP00000362748:I1525V	I	+	1	0	TET1	70096919	1.000000	0.71417	0.527000	0.27925	0.429000	0.31625	4.491000	0.60326	0.366000	0.24427	0.477000	0.44152	ATC		0.502	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		G	70426913	A	G	70426913	3	3	723	1	0	0	0	0	1	0	0	0	15774	217	8	3	4595	3	TET1	10	70426913	Missense_Mutation	SNP	A	TCGA-KM-8477-01A-11D-2310-10	545555	70426913	65107834	29	40629											
SEC24C	9632	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	10	75519464	75519464	+	Silent	SNP	G	G	A	rs375764899		TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr10:75519464G>A	ENST00000339365.2	+	5	555	c.393G>A	c.(391-393)ccG>ccA	p.P131P	SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000411652.2_5'UTR|SEC24C_ENST00000546025.1_5'UTR|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000345254.4_Silent_p.P131P	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	131					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					GCCCTCCCCCGACAAGTGCAC	0.617																																																0								G	,	1,4405	2.1+/-5.4	0,1,2202	52	47	49		393,393	-7.4	0.5	10		49	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SEC24C	NM_004922.3,NM_198597.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	131/1095,131/1095	75519464	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9632			D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"SEC24 (S. cerevisiae) related gene family, member C", "SEC24 family, member C (S. cerevisiae)"			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.393G>A	10.37:g.75519464G>A			B4DZT4|Q8WV25	Silent	SNP	ENST00000339365.2	37	CCDS7332.1																																																																																				0.617	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1			A	75519464	G	A	75519464	2	1	723	1	0	0	0	0	0	0	0	1	14002	1045	37	1		1	SEC24C	10	75519464	Silent	SNP	G	TCGA-KM-8477-01A-11D-2310-10	5092551	75519464	60015283	30	40630											
PTPRE	5791	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	10	129866455	129866455	+	Silent	SNP	C	C	T			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr10:129866455C>T	ENST00000254667.3	+	12	1191	c.912C>T	c.(910-912)ttC>ttT	p.F304F	PTPRE_ENST00000419012.2_Silent_p.F304F|PTPRE_ENST00000430713.2_3'UTR|PTPRE_ENST00000306042.5_Silent_p.F246F	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	304	Tyrosine-protein phosphatase 1. {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)	p.F304F(1)|p.F246F(1)		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)	GGCCCGACTTCGGAGTGCCTT	0.622																																					Colon(52;977 1184 20575 41685)											2	Substitution - coding silent(2)	prostate(2)											58	56	57					10																	129866455		2203	4300	6503	SO:0001819	synonymous_variant	5791			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.912C>T	10.37:g.129866455C>T			Q13345|Q5VWH3|Q5VWH4|Q96KQ6	Silent	SNP	ENST00000254667.3	37	CCDS7657.1																																																																																				0.622	PTPRE-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050990.1			T	129866455	C	T	129866455	2	4	723	1	0	0	0	0	0	0	0	1	12806	883	31	1		1	PTPRE	10	129866455	Silent	SNP	C	TCGA-KM-8477-01A-11D-2310-10	54346991	129866455	5668292	31	40631											
SMPD1	6609	ucsc.edu	37	11	6411941	6411941	+	Missense_Mutation	SNP	C	C	T	rs550365194|rs550067660|rs71467507|rs78250081|rs558809956|rs3838786	byFrequency	TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr11:6411941C>T	ENST00000342245.4	+	1	281	c.113C>T	c.(112-114)gCg>gTg	p.A38V	SMPD1_ENST00000533196.1_3'UTR|SMPD1_ENST00000527275.1_Missense_Mutation_p.A38V|SMPD1_ENST00000356761.2_Missense_Mutation_p.A38V|SMPD1_ENST00000299397.3_Missense_Mutation_p.A38V	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid lysosomal	38					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)	ctggtgctggcgctggcgctg	0.711																																																0													11	14	13					11																	6411941		2185	4258	6443	SO:0001583	missense	6609			AB209775	CCDS31409.1, CCDS44531.1, CCDS31409.2	11p15.4-p15.1	2010-04-28	2008-02-04		ENSG00000166311	ENSG00000166311	3.1.4.12		11120	protein-coding gene	gene with protein product	"acid sphingomyelinase"	607608				1711683	Standard	NM_000543		Approved	ASM	uc001mcw.3	P17405	OTTHUMG00000165453	ENST00000342245.4:c.113C>T	11.37:g.6411941C>T	ENSP00000340409:p.Ala38Val		A8K8M3|E9PKS3|P17406|Q13811|Q16837|Q16841	Missense_Mutation	SNP	ENST00000342245.4	37	CCDS44531.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.234305	0.39498	.	.	ENSG00000166311	ENST00000299397;ENST00000356761;ENST00000342245;ENST00000527275	T;T;T;T	0.09723	2.95;2.95;2.95;2.95	4.54	-1.08	0.09936	.	.	.	.	.	T	0.04363	0.0120	N	0.08118	0	0.09310	N	1	B;B	0.15473	0.002;0.013	B;B	0.10450	0.002;0.005	T	0.47275	-0.9130	9	0.12103	T	0.63	.	6.8659	0.24093	0.0:0.5614:0.262:0.1766	.	38;38	E9PKS3;G3XAB5	.;.	V	38	ENSP00000299397:A38V;ENSP00000349203:A38V;ENSP00000340409:A38V;ENSP00000435350:A38V	ENSP00000299397:A38V	A	+	2	0	SMPD1	6368517	0.000000	0.05858	0.130000	0.21974	0.033000	0.12548	-2.110000	0.01334	-0.479000	0.06813	-1.305000	0.01319	GCG		0.711	SMPD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384205.1	NM_000543		T	6411941	C	T	6411941	3	4	723	1	0	0	0	0	1	0	0	0	14810	768	27	1	115	1	SMPD1	11	6411941	Missense_Mutation	SNP	C	TCGA-KM-8477-01A-11D-2310-10		6411941	128594575	32	40632											
OR5F1	338674	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	11	55762021	55762021	+	Silent	SNP	G	G	A			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr11:55762021G>A	ENST00000278409.1	-	1	80	c.81C>T	c.(79-81)ctC>ctT	p.L27L		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	27					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(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					AAAACAAAAAGAGGATAATCT	0.378																																																0													62	62	62					11																	55762021		2201	4296	6497	SO:0001819	synonymous_variant	338674			AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"GPCR / Class A : Olfactory receptors"	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.81C>T	11.37:g.55762021G>A			Q495D1|Q6IFB9	Silent	SNP	ENST00000278409.1	37	CCDS31515.1																																																																																				0.378	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	NM_003697		A	55762021	G	A	55762021	2	1	723	1	0	0	0	0	0	0	0	1	11160	929	33	2		2	OR5F1	11	55762021	Silent	SNP	G	TCGA-KM-8477-01A-11D-2310-10	49350080	55762021	79244495	33	40633											
FOLR2	2350	hgsc.bcm.edu;mdanderson.org	37	11	71932761	71932761	+	Silent	SNP	C	C	T			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr11:71932761C>T	ENST00000298223.6	+	5	910	c.723C>T	c.(721-723)ctC>ctT	p.L241L	FOLR2_ENST00000454954.2_Silent_p.L200L|FOLR2_ENST00000449475.2_Silent_p.L237L	NM_000803.4|NM_001113534.1|NM_001113535.1|NM_001113536.1	NP_000794.3|NP_001107006.1|NP_001107007.1|NP_001107008.1	P14207	FOLR2_HUMAN	folate receptor 2 (fetal)	241					folic acid transport (GO:0015884)	anchored component of external side of plasma membrane (GO:0031362)|extracellular region (GO:0005576)|membrane (GO:0016020)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)			breast(3)|large_intestine(3)|ovary(1)|skin(1)	8					Folic Acid(DB00158)	CTGGGGGTCTCCTGCTCAGTC	0.582																																																0													63	64	64					11																	71932761		2200	4293	6493	SO:0001819	synonymous_variant	2350			AK222539	CCDS8212.1	11q13.3-q14.1	2010-04-08			ENSG00000165457	ENSG00000165457			3793	protein-coding gene	gene with protein product		136425				1133088, 7698003	Standard	NM_000803		Approved		uc009ytf.3	P14207	OTTHUMG00000150394	ENST00000298223.6:c.723C>T	11.37:g.71932761C>T			Q05CA5|Q6GTE8	Silent	SNP	ENST00000298223.6	37	CCDS8212.1																																																																																				0.582	FOLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317923.2	NM_000803		T	71932761	C	T	71932761	2	4	723	1	0	0	0	0	0	0	0	1	5984	842	30	2		2	FOLR2	11	71932761	Silent	SNP	C	TCGA-KM-8477-01A-11D-2310-10	16170740	71932761	63073755	34	40634											
SORL1	6653	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	11	121444978	121444978	+	Missense_Mutation	SNP	G	G	C	rs200656084		TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr11:121444978G>C	ENST00000260197.7	+	24	3495	c.3366G>C	c.(3364-3366)caG>caC	p.Q1122H	SORL1_ENST00000532694.1_5'Flank|SORL1_ENST00000534286.1_5'Flank|SORL1_ENST00000525532.1_Missense_Mutation_p.Q66H	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1122	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TGGACACCCAGTTTCGTTGCC	0.438																																																0													224	196	205					11																	121444978		2203	4299	6502	SO:0001583	missense	6653			Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"Fibronectin type III domain containing"	11185	protein-coding gene	gene with protein product	"LDLR relative with 11 ligand-binding repeats"	602005	"chromosome 11 open reading frame 32", "sortilin-related receptor, L(DLR class) A repeats-containing"	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.3366G>C	11.37:g.121444978G>C	ENSP00000260197:p.Gln1122His		B2RNX7|Q92856	Missense_Mutation	SNP	ENST00000260197.7	37	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.920831	0.73213	.	.	ENSG00000137642	ENST00000260197;ENST00000525532	D;D	0.95821	-3.82;-3.82	5.72	4.81	0.61882	.	0.058304	0.64402	D	0.000001	D	0.96494	0.8856	L	0.55834	1.745	0.80722	D	1	D	0.67145	0.996	D	0.68192	0.956	D	0.95860	0.8882	10	0.39692	T	0.17	.	14.7022	0.69164	0.0692:0.0:0.9308:0.0	.	1122	Q92673	SORL_HUMAN	H	1122;66	ENSP00000260197:Q1122H;ENSP00000434634:Q66H	ENSP00000260197:Q1122H	Q	+	3	2	SORL1	120950188	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.267000	0.78462	1.419000	0.47118	0.655000	0.94253	CAG		0.438	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		C	121444978	G	C	121444978	3	2	723	1	0	0	0	0	1	0	0	0	14940	1020	36	4	3460	4	SORL1	11	121444978	Missense_Mutation	SNP	G	TCGA-KM-8477-01A-11D-2310-10	49512217	121444978	13561538	35	40635											
WNT5B	81029	broad.mit.edu;bcgsc.ca	37	12	1742019	1742019	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr12:1742019G>A	ENST00000397196.2	+	3	508	c.276G>A	c.(274-276)tgG>tgA	p.W92*	WNT5B_ENST00000310594.3_Nonsense_Mutation_p.W92*|WNT5B_ENST00000537031.1_Nonsense_Mutation_p.W92*|WNT5B_ENST00000542408.1_Nonsense_Mutation_p.W92*	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family, member 5B	92					cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|fat cell differentiation (GO:0045444)|lens fiber cell development (GO:0070307)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of fat cell differentiation (GO:0045600)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor binding (GO:0005102)			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			AGCGGCGGTGGAATTGCAGCA	0.567																																																0													61	62	61					12																	1742019		2203	4300	6503	SO:0001587	stop_gained	81029			AB060966	CCDS8510.1	12p13.3	2008-07-07			ENSG00000111186	ENSG00000111186		"Wingless-type MMTV integration sites"	16265	protein-coding gene	gene with protein product		606361				11445850	Standard	NM_030775		Approved		uc001qjk.3	Q9H1J7	OTTHUMG00000090375	ENST00000397196.2:c.276G>A	12.37:g.1742019G>A	ENSP00000380379:p.Trp92*		A8K315|D3DUP9|Q96S49|Q9BV04	Nonsense_Mutation	SNP	ENST00000397196.2	37	CCDS8510.1	.	.	.	.	.	.	.	.	.	.	G	41	8.843801	0.98974	.	.	ENSG00000111186	ENST00000539198;ENST00000545811;ENST00000537031;ENST00000310594;ENST00000397196;ENST00000543071;ENST00000542408	.	.	.	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.931	0.92566	0.0:0.0:1.0:0.0	.	.	.	.	X	92	.	ENSP00000308887:W92X	W	+	3	0	WNT5B	1612280	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.751000	0.98889	2.540000	0.85666	0.644000	0.83932	TGG		0.567	WNT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206747.2			A	1742019	G	A	1742019	4	1	723	1	0	0	0	0	0	1	0	0	17397	1183	41	2	282	2	WNT5B	12	1742019	Nonsense_Mutation	SNP	G	TCGA-KM-8477-01A-11D-2310-10		1742019	132109876	36	40636											
VAMP1	6843	broad.mit.edu	37	12	6574085	6574085	+	Missense_Mutation	SNP	A	A	G			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr12:6574085A>G	ENST00000396308.3	-	4	456	c.311T>C	c.(310-312)aTc>aCc	p.I104T	TAPBPL_ENST00000545700.1_Intron|VAMP1_ENST00000361716.3_Missense_Mutation_p.I104T|VAMP1_ENST00000535180.1_Missense_Mutation_p.I104T|VAMP1_ENST00000400911.3_Missense_Mutation_p.I104T|VAMP1_ENST00000544432.1_5'UTR	NM_014231.3|NM_199245.1	NP_055046.1|NP_954740.1	P23763	VAMP1_HUMAN	vesicle-associated membrane protein 1 (synaptobrevin 1)	104					neurotransmitter secretion (GO:0007269)|SNARE complex assembly (GO:0035493)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuron projection (GO:0043005)|synapse (GO:0045202)				endometrium(1)|large_intestine(1)|prostate(1)	3					Botulinum Toxin Type B(DB00042)	GATGGCACAGATGGCTCCCAG	0.488																																																0													228	197	207					12																	6574085		2203	4300	6503	SO:0001583	missense	6843				CCDS31731.1, CCDS41740.1, CCDS44809.1, CCDS73422.1	12p	2013-02-13			ENSG00000139190	ENSG00000139190		"Vesicle-associated membrane proteins"	12642	protein-coding gene	gene with protein product		185880		SYB1		1976629	Standard	XM_006719011		Approved	VAMP-1	uc001qok.3	P23763	OTTHUMG00000168269	ENST00000396308.3:c.311T>C	12.37:g.6574085A>G	ENSP00000379602:p.Ile104Thr		A8MVP3|D3DUR3|O75468|Q15857|Q6FG94|Q8IVC9	Missense_Mutation	SNP	ENST00000396308.3	37	CCDS41740.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.020662	0.75275	.	.	ENSG00000139190	ENST00000400911;ENST00000361716;ENST00000535180;ENST00000396308;ENST00000396943	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.73	5.73	0.89815	Synaptobrevin (2);	0.057713	0.64402	D	0.000002	T	0.57902	0.2085	M	0.78456	2.415	0.80722	D	1	P;B;P	0.46512	0.782;0.283;0.879	P;B;P	0.46076	0.503;0.324;0.503	T	0.65364	-0.6186	10	0.87932	D	0	.	16.0174	0.80450	1.0:0.0:0.0:0.0	.	104;104;104	P23763-3;P23763;P23763-2	.;VAMP1_HUMAN;.	T	104	ENSP00000383702:I104T;ENSP00000355122:I104T;ENSP00000444181:I104T;ENSP00000379602:I104T	ENSP00000355122:I104T	I	-	2	0	VAMP1	6444346	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	2.186000	0.69663	0.533000	0.62120	ATC		0.488	VAMP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399078.1			G	6574085	A	G	6574085	3	3	723	1	0	0	0	0	1	0	0	0	17117	333	12	3	82	3	VAMP1	12	6574085	Missense_Mutation	SNP	A	TCGA-KM-8477-01A-11D-2310-10	4832066	6574085	127277810	37	40637											
ACCN2	41	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	50472361	50472361	+	Splice_Site	SNP	G	G	A			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr12:50472361G>A	ENST00000447966.2	+	6	1223		c.e6+1		ASIC1_ENST00000228468.4_Splice_Site|ASIC1_ENST00000552438.1_Splice_Site	NM_001095.3	NP_001086.2	P78348	ASIC1_HUMAN	acid-sensing (proton-gated) ion channel 1						associative learning (GO:0008306)|calcium ion transmembrane transport (GO:0070588)|cellular response to pH (GO:0071467)|ion transmembrane transport (GO:0034220)|memory (GO:0007613)|negative regulation of neurotransmitter secretion (GO:0046929)|protein homotrimerization (GO:0070207)|regulation of membrane potential (GO:0042391)|response to acidic pH (GO:0010447)|response to pH (GO:0009268)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acid-sensing ion channel activity (GO:0044736)|ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)									Amiloride(DB00594)|Diclofenac(DB00586)	CACATGCCAGGTCAGGCCTGG	0.597																																																0													118	118	118					12																	50472361		2203	4300	6503	SO:0001630	splice_region_variant	41			U78181	CCDS8796.1, CCDS44876.1, CCDS58228.1	12q12	2012-02-23	2012-02-22	2012-02-22		ENSG00000110881		"Ion channels / Acid-sensing (proton-gated) ion channels"	100	protein-coding gene	gene with protein product		602866	"amiloride-sensitive cation channel 2, neuronal"	ACCN2		9037075	Standard	NM_001095		Approved	BNaC2, hBNaC2	uc001rvv.4	P78348	OTTHUMG00000169812	ENST00000447966.2:c.994+1G>A	12.37:g.50472361G>A			A3KN86|E5KBL7|P78349|Q96CV2	Splice_Site	SNP	ENST00000447966.2	37	CCDS44876.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.935661	0.73442	.	.	ENSG00000110881	ENST00000228468;ENST00000447966;ENST00000453327;ENST00000552438	.	.	.	3.82	3.82	0.43975	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0278	0.86452	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ACCN2	48758628	1.000000	0.71417	0.996000	0.52242	0.924000	0.55760	9.584000	0.98220	2.414000	0.81942	0.462000	0.41574	.		0.597	ASIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406004.2	NM_020039	Intron	A	50472361	G	A	50472361	5	1	723	1	0	0	0	0	0	0	1	0	129	1275	44	2	1013	2	ACCN2	12	50472361	Splice_Site	SNP	G	TCGA-KM-8477-01A-11D-2310-10	43898276	50472361	83379534	38	40638											
SOS2	6655	broad.mit.edu;mdanderson.org;bcgsc.ca	37	14	50619875	50619875	+	Missense_Mutation	SNP	G	G	A			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr14:50619875G>A	ENST00000216373.5	-	13	2348	c.2074C>T	c.(2074-2076)Cgg>Tgg	p.R692W	SOS2_ENST00000543680.1_Missense_Mutation_p.R659W|SOS2_ENST00000555794.1_5'Flank	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	692	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				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)					ACCCAATGCCGAAATACATTT	0.313																																																0													90	94	93					14																	50619875		2202	4297	6499	SO:0001583	missense	6655			L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11188	protein-coding gene	gene with protein product		601247	"son of sevenless (Drosophilia) homolog 2"			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.2074C>T	14.37:g.50619875G>A	ENSP00000216373:p.Arg692Trp		B7ZKT6|D3DSB4|Q15503|Q17RN1	Missense_Mutation	SNP	ENST00000216373.5	37	CCDS9697.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.017239	0.93404	.	.	ENSG00000100485	ENST00000216373;ENST00000543680	T;T	0.52754	0.65;0.65	5.96	5.96	0.96718	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.78207	0.4247	M	0.92219	3.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.82277	-0.0537	10	0.87932	D	0	.	20.4192	0.99033	0.0:0.0:1.0:0.0	.	659;692	B7ZKT6;Q07890	.;SOS2_HUMAN	W	692;659	ENSP00000216373:R692W;ENSP00000445328:R659W	ENSP00000216373:R692W	R	-	1	2	SOS2	49689625	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.831000	0.97527	0.650000	0.86243	CGG		0.313	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276878.2			A	50619875	G	A	50619875	3	1	723	1	0	0	0	0	1	0	0	0	14943	1057	37	1	1968	1	SOS2	14	50619875	Missense_Mutation	SNP	G	TCGA-KM-8477-01A-11D-2310-10		50619875	56729665	39	40639											
HERC2	8924	mdanderson.org	37	15	28482158	28482158	+	Silent	SNP	C	C	G	rs3881419		TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr15:28482158C>G	ENST00000261609.7	-	26	4062	c.3954G>C	c.(3952-3954)tcG>tcC	p.S1318S		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)		TTGCCAAATACGAAGCGTGTA	0.453																																																0													106	95	99					15																	28482158		2202	4299	6501	SO:0001819	synonymous_variant	8924			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.3954G>C	15.37:g.28482158C>G				Silent	SNP	ENST00000261609.7	37	CCDS10021.1																																																																																				0.453	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		G	28482158	C	G	28482158	2	3	723	1	0	0	0	0	0	0	0	1	7060	523	19	4		4	HERC2	15	28482158	Silent	SNP	C	TCGA-KM-8477-01A-11D-2310-10		28482158	74049234	40	40640											
UNC13C	440279	broad.mit.edu	37	15	54557616	54557616	+	Missense_Mutation	SNP	T	T	C			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr15:54557616T>C	ENST00000260323.11	+	9	3740	c.3740T>C	c.(3739-3741)gTt>gCt	p.V1247A	UNC13C_ENST00000537900.1_Missense_Mutation_p.V1245A|UNC13C_ENST00000545554.1_Missense_Mutation_p.V1247A	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1247	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				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)		TATGTTACAGTTCAAGTTGGA	0.328																																																0													56	52	53					15																	54557616		1802	4065	5867	SO:0001583	missense	440279			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.3740T>C	15.37:g.54557616T>C	ENSP00000260323:p.Val1247Ala		Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.241956	0.79912	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.73897	-0.79;-0.79;-0.79	5.04	5.04	0.67666	C2 membrane targeting protein (1);C2 region (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.82628	0.5078	L	0.54908	1.71	0.58432	D	0.999993	P;D	0.76494	0.833;0.999	P;D	0.87578	0.83;0.998	T	0.83086	-0.0135	10	0.48119	T	0.1	.	14.2363	0.65929	0.0:0.0:0.0:1.0	.	1247;1247	F5H090;Q8NB66	.;UN13C_HUMAN	A	1247;1247;1245	ENSP00000260323:V1247A;ENSP00000438156:V1247A;ENSP00000442569:V1245A	ENSP00000260323:V1247A	V	+	2	0	UNC13C	52344908	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.982000	0.88131	2.011000	0.59026	0.482000	0.46254	GTT		0.328	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		C	54557616	T	C	54557616	3	2	723	1	0	0	0	0	1	0	0	0	16991	1725	60	3	3770	3	UNC13C	15	54557616	Missense_Mutation	SNP	T	TCGA-KM-8477-01A-11D-2310-10	26075458	54557616	47973776	41	40641											
HBQ1	3049	mdanderson.org	37	16	230578	230578	+	Silent	SNP	A	A	G	rs11863726	byFrequency	TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr16:230578A>G	ENST00000199708.2	+	1	127	c.93A>G	c.(91-93)gaA>gaG	p.E31E	Y_RNA_ENST00000384514.1_RNA	NM_005331.4	NP_005322.1	P09105	HBAT_HUMAN	hemoglobin, theta 1	31					oxygen transport (GO:0015671)	hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			large_intestine(1)	1		all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				AGGCCCTGGAAAGGTGCGGCA	0.736													G|||	1021	0.203874	0.5522	0.1081	5008	,	,		7023	0.004		0.0974	False		,,,				2504	0.1166															0								G		1020,2422		86,848,787	2	3	3		93	2.5	1	16	dbSNP_120	3	483,6397		14,455,2971	no	coding-synonymous	HBQ1	NM_005331.4		100,1303,3758	GG,GA,AA		7.0203,29.6339,14.5611		31/143	230578	1503,8819	1721	3440	5161	SO:0001819	synonymous_variant	3049			BC056686	CCDS10400.1	16p13.3	2014-05-19			ENSG00000086506	ENSG00000086506			4833	protein-coding gene	gene with protein product		142240				2649166	Standard	NM_005331		Approved	HBQ	uc002cfz.3	P09105	OTTHUMG00000060727	ENST00000199708.2:c.93A>G	16.37:g.230578A>G			Q13723|Q1W6G5	Silent	SNP	ENST00000199708.2	37	CCDS10400.1																																																																																				0.736	HBQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134226.1	NM_005331		G	230578	A	G	230578	2	3	723	1	0	0	0	0	0	0	0	1	6988	11	1	3		3	HBQ1	16	230578	Silent	SNP	A	TCGA-KM-8477-01A-11D-2310-10		230578	90124175	42	40642											
CRAMP1L	57585	ucsc.edu	37	16	1706144	1706144	+	Silent	SNP	A	A	G			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr16:1706144A>G	ENST00000397412.3	+	10	1485	c.1386A>G	c.(1384-1386)aaA>aaG	p.K462K	CRAMP1L_ENST00000293925.5_Silent_p.K462K|CRAMP1L_ENST00000436138.3_Silent_p.K459K|LA16c-431H6.6_ENST00000454337.1_Intron|CRAMP1L_ENST00000262317.4_Intron			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	462						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						GCCAGGTGAAATGCCCGCGGA	0.726																																																0													8	11	11					16																	1706144		1859	4028	5887	SO:0001819	synonymous_variant	57585			AB037847	CCDS10440.2	16p13.3	2008-07-30	2001-11-28		ENSG00000007545	ENSG00000007545			14122	protein-coding gene	gene with protein product			"Crm (Cramped Drosophila)-like"				Standard	NM_020825		Approved	KIAA1426	uc010uvh.2	Q96RY5	OTTHUMG00000074087	ENST00000397412.3:c.1386A>G	16.37:g.1706144A>G			A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Silent	SNP	ENST00000397412.3	37	CCDS10440.2																																																																																				0.726	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157297.4			G	1706144	A	G	1706144	2	3	723	1	0	0	0	0	0	0	0	1	3848	98	4	3		3	CRAMP1L	16	1706144	Silent	SNP	A	TCGA-KM-8477-01A-11D-2310-10	1475566	1706144	88648609	43	40643											
SRRM2	23524	mdanderson.org	37	16	2813441	2813441	+	Missense_Mutation	SNP	G	G	T			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr16:2813441G>T	ENST00000301740.8	+	11	3461	c.2912G>T	c.(2911-2913)gGg>gTg	p.G971V		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	971	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						AGTCATTCTGGGTCCTCCTCA	0.493																																																0													132	131	131					16																	2813441		2198	4300	6498	SO:0001583	missense	23524			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.2912G>T	16.37:g.2813441G>T	ENSP00000301740:p.Gly971Val		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	G	6.263	0.416561	0.11870	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933;ENST00000426305	T	0.24151	1.87	5.61	5.61	0.85477	.	0.171178	0.41294	D	0.000918	T	0.22475	0.0542	L	0.29908	0.895	0.43824	D	0.996394	B	0.19583	0.037	B	0.20384	0.029	T	0.02208	-1.1195	10	0.37606	T	0.19	-3.6856	17.1288	0.86721	0.0:0.0:1.0:0.0	.	971	Q9UQ35	SRRM2_HUMAN	V	971;971;223;936	ENSP00000301740:G971V	ENSP00000301740:G971V	G	+	2	0	SRRM2	2753442	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	5.416000	0.66417	2.656000	0.90262	0.655000	0.94253	GGG		0.493	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			T	2813441	G	T	2813441	3	4	723	1	0	0	0	0	1	0	0	0	15174	1232	43	4	2950	4	SRRM2	16	2813441	Missense_Mutation	SNP	G	TCGA-KM-8477-01A-11D-2310-10	1107297	2813441	87541312	44	40644											
AMAC1L3	643664	mdanderson.org	37	17	7386234	7386234	+	Missense_Mutation	SNP	G	G	A	rs200251320	byFrequency	TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr17:7386234G>A	ENST00000412468.2	+	2	1046	c.931G>A	c.(931-933)Gtg>Atg	p.V311M	POLR2A_ENST00000322644.6_5'Flank|POLR2A_ENST00000572844.1_5'Flank|ZBTB4_ENST00000311403.4_Intron	NM_001102614.1	NP_001096084.1	P0C7Q6	S35G6_HUMAN	solute carrier family 35, member G6	311	EamA 2.					integral component of membrane (GO:0016021)		p.V311M(1)									TTCTGACATCGTGGGGGCAGG	0.572																																																1	Substitution - Missense(1)	skin(1)											119	108	112					17																	7386234		2203	4300	6503	SO:0001583	missense	643664				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.931G>A	17.37:g.7386234G>A	ENSP00000396523:p.Val311Met			Missense_Mutation	SNP	ENST00000412468.2	37	CCDS45603.1	.	.	.	.	.	.	.	.	.	.	G	0.036	-1.304956	0.01353	.	.	ENSG00000181222	ENST00000412468	T	0.53857	0.6	4.38	3.29	0.37713	.	.	.	.	.	T	0.31670	0.0804	N	0.14661	0.345	0.23581	N	0.997368	B	0.06786	0.001	B	0.04013	0.001	T	0.19516	-1.0303	9	0.13108	T	0.6	-2.3468	9.3381	0.38062	0.911:0.0:0.089:0.0	.	311	P0C7Q6	S35G6_HUMAN	M	311	ENSP00000396523:V311M	ENSP00000396523:V311M	V	+	1	0	SLC35G6	7326958	1.000000	0.71417	1.000000	0.80357	0.650000	0.38633	1.343000	0.33930	0.645000	0.30675	-0.383000	0.06682	GTG		0.572	SLC35G6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001102614		A	7386234	G	A	7386234	3	1	723	1	0	0	0	0	1	0	0	0	561	1145	40	1	937	1	AMAC1L3	17	7386234	Missense_Mutation	SNP	G	TCGA-KM-8477-01A-11D-2310-10		7386234	73808976	45	40645											
MLLT6	4302	broad.mit.edu	37	17	36873792	36873793	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr17:36873792_36873793insC	ENST00000325718.7	+	11	1850_1851	c.1759_1760insC	c.(1759-1761)gccfs	p.A587fs	CTB-58E17.9_ENST00000579499.1_RNA|MIR4726_ENST00000577947.1_RNA	NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	587					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)					AGGGACCTCGGCCCTGCCCCGC	0.663			T	MLL	AL																																		Dom	yes		17	17q21	4302	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (AF17)"		L	0																																										SO:0001589	frameshift_variant	4302				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.1762dupC	17.37:g.36873795_36873795dupC	ENSP00000316426:p.Ala587fs		Q59F28|Q96IU3|Q9H5F6|Q9UF49	Frame_Shift_Ins	INS	ENST00000325718.7	37	CCDS11327.1																																																																																				0.663	MLLT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256799.1	NM_005937		C	36873793	-	C	36873792	7	5	723	1	0	1	1	0	0	0	0	0	9632	1203	42	0	1801	0	MLLT6	17	36873792	Frame_Shift_Ins	INS	-	TCGA-KM-8477-01A-11D-2310-10	29487558	36873792	44321418	46	40646											
ZNF136	7695	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	19	12296934	12296934	+	Missense_Mutation	SNP	A	A	C	rs536989294		TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr19:12296934A>C	ENST00000343979.4	+	3	276	c.136A>C	c.(136-138)Aaa>Caa	p.K46Q	ZNF136_ENST00000398616.2_5'UTR	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	46	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)|transcription corepressor activity (GO:0003714)			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						TTTAGGGAAAAAATGGAAGGA	0.343																																																0													37	36	36					19																	12296934		2202	4299	6501	SO:0001583	missense	7695			U09367	CCDS32916.1	19p13.2	2013-01-08	2006-06-13		ENSG00000196646	ENSG00000196646		"Zinc fingers, C2H2-type", "-"	12920	protein-coding gene	gene with protein product		604078	"zinc finger protein 136 (clone pHZ-20)"			7557990	Standard	NM_003437		Approved	pHZ-20	uc002mti.3	P52737	OTTHUMG00000156429	ENST00000343979.4:c.136A>C	19.37:g.12296934A>C	ENSP00000344162:p.Lys46Gln			Missense_Mutation	SNP	ENST00000343979.4	37	CCDS32916.1	.	.	.	.	.	.	.	.	.	.	A	9.230	1.035503	0.19590	.	.	ENSG00000196646	ENST00000425827;ENST00000343979;ENST00000418338	T;T;T	0.44881	1.79;5.69;0.91	1.93	0.672	0.17935	Krueppel-associated box (3);	.	.	.	.	T	0.17874	0.0429	N	0.16066	0.365	0.18873	N	0.999988	B	0.29862	0.259	B	0.19666	0.026	T	0.15178	-1.0446	9	0.18710	T	0.47	.	2.3354	0.04246	0.4933:0.3087:0.198:0.0	.	46	P52737	ZN136_HUMAN	Q	14;46;14	ENSP00000403707:K14Q;ENSP00000344162:K46Q;ENSP00000397176:K14Q	ENSP00000344162:K46Q	K	+	1	0	ZNF136	12157934	0.115000	0.22152	0.003000	0.11579	0.127000	0.20565	2.578000	0.46051	0.888000	0.36160	0.533000	0.62120	AAA		0.343	ZNF136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344151.2	NM_003437		C	12296934	A	C	12296934	3	2	723	1	0	0	0	0	1	0	0	0	17731	15	1	5	146	5	ZNF136	19	12296934	Missense_Mutation	SNP	A	TCGA-KM-8477-01A-11D-2310-10		12296934	46832049	47	40647											
F2RL3	9002	mdanderson.org	37	19	17000632	17000632	+	Missense_Mutation	SNP	G	G	A	rs773902	byFrequency	TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr19:17000632G>A	ENST00000248076.3	+	2	688	c.358G>A	c.(358-360)Gct>Act	p.A120T	F2RL3_ENST00000599210.1_3'UTR	NM_003950.2	NP_003941.2	Q96RI0	PAR4_HUMAN	coagulation factor II (thrombin) receptor-like 3	120			A -> T (in dbSNP:rs773902). {ECO:0000269|PubMed:9618465, ECO:0000269|PubMed:9716134, ECO:0000269|PubMed:9722561}.		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						GAACCTCGCGGCTGCTGACCT	0.741													G|||	1713	0.342053	0.615	0.2911	5008	,	,		14611	0.2371		0.2058	False		,,,				2504	0.2577															0								G	THR/ALA	2354,1990		672,1010,490	11	10	11		358	0.9	0	19	dbSNP_86	11	1691,6781		190,1311,2735	yes	missense	F2RL3	NM_003950.2	58	862,2321,3225	AA,AG,GG		19.9599,45.8103,31.5621	benign	120/386	17000632	4045,8771	2172	4236	6408	SO:0001583	missense	9002			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.358G>A	19.37:g.17000632G>A	ENSP00000248076:p.Ala120Thr		O76067|Q6DK42	Missense_Mutation	SNP	ENST00000248076.3	37	CCDS12350.1	647	0.29624542124542125	263	0.5345528455284553	108	0.2983425414364641	130	0.22727272727272727	146	0.19261213720316622	G	8.642	0.896247	0.17686	0.541897	0.199599	ENSG00000127533	ENST00000248076	T	0.37752	1.18	4.3	0.917	0.19380	GPCR, rhodopsin-like superfamily (1);	0.571113	0.15977	U	0.235519	T	0.00012	0.0000	L	0.50333	1.59	0.80722	P	0.0	B	0.33135	0.399	B	0.40782	0.34	T	0.45920	-0.9228	9	0.36615	T	0.2	.	5.4574	0.16598	0.244:0.0:0.6162:0.1398	rs773902;rs936378;rs58632682;rs773902	120	Q96RI0	PAR4_HUMAN	T	120	ENSP00000248076:A120T	ENSP00000248076:A120T	A	+	1	0	F2RL3	16861632	0.002000	0.14202	0.001000	0.08648	0.142000	0.21351	1.267000	0.33050	0.003000	0.14656	-0.336000	0.08194	GCT		0.741	F2RL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462875.1			A	17000632	G	A	17000632	3	1	723	1	0	0	0	0	1	0	0	0	5348	1203	42	2	364	2	F2RL3	19	17000632	Missense_Mutation	SNP	G	TCGA-KM-8477-01A-11D-2310-10	4703698	17000632	42128351	48	40648											
SLC7A10	56301	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	33702229	33702229	+	Silent	SNP	G	G	A			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr19:33702229G>A	ENST00000253188.4	-	7	1064	c.918C>T	c.(916-918)ttC>ttT	p.F306F		NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10	306					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)					GCTTCTCCCCGAAGGTCTGGG	0.622																																																0													60	56	57					19																	33702229		2203	4300	6503	SO:0001819	synonymous_variant	56301			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.918C>T	19.37:g.33702229G>A			B2RE84	Silent	SNP	ENST00000253188.4	37	CCDS12431.1																																																																																				0.622	SLC7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450846.2	NM_019849		A	33702229	G	A	33702229	2	1	723	1	0	0	0	0	0	0	0	1	14699	1049	37	1		1	SLC7A10	19	33702229	Silent	SNP	G	TCGA-KM-8477-01A-11D-2310-10	16701597	33702229	25426754	49	40649											
CEACAM5	1048	broad.mit.edu	37	19	42219764	42219764	+	Missense_Mutation	SNP	A	A	G			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr19:42219764A>G	ENST00000221992.6	+	4	1013	c.899A>G	c.(898-900)cAa>cGa	p.Q300R	CEACAM5_ENST00000405816.1_Missense_Mutation_p.Q300R|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Missense_Mutation_p.Q300R	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	300	Ig-like 3.				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)		TATACGTGCCAAGCCCATAAC	0.473																																																0													128	107	114					19																	42219764		2203	4300	6503	SO:0001583	missense	1048			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.899A>G	19.37:g.42219764A>G	ENSP00000221992:p.Gln300Arg		H9KVA7	Missense_Mutation	SNP	ENST00000221992.6	37	CCDS12584.1	.	.	.	.	.	.	.	.	.	.	-	1.424	-0.572155	0.03882	.	.	ENSG00000105388	ENST00000221992;ENST00000405816	T;T	0.10763	2.84;2.84	3.12	0.291	0.15732	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.07503	0.0189	N	0.16037	0.36	0.09310	N	1	B;B	0.21688	0.027;0.059	B;B	0.36335	0.161;0.222	T	0.49560	-0.8927	9	0.25106	T	0.35	.	6.413	0.21702	0.5553:0.0:0.0:0.4447	.	300;300	P06731;Q53G30	CEAM5_HUMAN;.	R	300	ENSP00000221992:Q300R;ENSP00000385072:Q300R	ENSP00000221992:Q300R	Q	+	2	0	CEACAM5	46911604	0.000000	0.05858	0.009000	0.14445	0.278000	0.26855	-1.272000	0.02826	-0.559000	0.06110	0.172000	0.16884	CAA		0.473	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363		G	42219764	A	G	42219764	3	3	723	1	0	0	0	0	1	0	0	0	3197	130	5	3	913	3	CEACAM5	19	42219764	Missense_Mutation	SNP	A	TCGA-KM-8477-01A-11D-2310-10	8517535	42219764	16909219	50	40650											
PAX1	5075	mdanderson.org	37	20	21695347	21695347	+	Missense_Mutation	SNP	C	C	T	rs17861061	byFrequency	TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr20:21695347C>T	ENST00000398485.2	+	5	1565	c.1511C>T	c.(1510-1512)cCa>cTa	p.P504L	PAX1_ENST00000444366.2_3'UTR	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	504			P -> L (in dbSNP:rs17861061). {ECO:0000269|Ref.2}.		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						GGTGCACGCCCAGCCAGCCCC	0.682													C|||	36	0.0071885	0.0008	0.0058	5008	,	,		12098	0.0		0.0199	False		,,,				2504	0.0112															0								C	LEU/PRO	13,4389	19.1+/-41.9	0,13,2188	40	38	38		1511	-6.6	0	20	dbSNP_123	38	162,8436	73.8+/-136.5	3,156,4140	no	missense	PAX1	NM_006192.3	98	3,169,6328	TT,TC,CC		1.8842,0.2953,1.3462	probably-damaging	504/535	21695347	175,12825	2201	4299	6500	SO:0001583	missense	5075				CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"Paired boxes"	8615	protein-coding gene	gene with protein product		167411	"paired box gene 1"			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.1511C>T	20.37:g.21695347C>T	ENSP00000381499:p.Pro504Leu		B4E0D6|Q642X9|Q6NTC0|Q9Y558	Missense_Mutation	SNP	ENST00000398485.2	37	CCDS13146.2	18	0.008241758241758242	1	0.0020325203252032522	4	0.011049723756906077	0	0.0	13	0.017150395778364115	C	4.886	0.164741	0.09287	0.002953	0.018842	ENSG00000125813	ENST00000398485	D	0.97575	-4.44	3.31	-6.62	0.01813	.	.	.	.	.	D	0.84401	0.5464	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.78033	-0.2362	9	0.87932	D	0	.	8.4104	0.32640	0.0:0.2143:0.5872:0.1985	rs17861061	504	P15863	PAX1_HUMAN	L	504	ENSP00000381499:P504L	ENSP00000381499:P504L	P	+	2	0	PAX1	21643347	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.001000	0.03690	-1.400000	0.02061	-1.365000	0.01206	CCA		0.682	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078282.3			T	21695347	C	T	21695347	3	4	723	1	0	0	0	0	1	0	0	0	11480	594	21	2	1529	2	PAX1	20	21695347	Missense_Mutation	SNP	C	TCGA-KM-8477-01A-11D-2310-10		21695347	41330173	51	40651											
CTNNBL1	56259	broad.mit.edu;hgsc.bcm.edu	37	20	36470751	36470752	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr20:36470751_36470752insA	ENST00000361383.6	+	13	1439_1440	c.1322_1323insA	c.(1321-1326)ctaatgfs	p.M442fs	CTNNBL1_ENST00000373469.1_Frame_Shift_Ins_p.M190fs|CTNNBL1_ENST00000473857.1_3'UTR|CTNNBL1_ENST00000405275.2_Frame_Shift_Ins_p.M415fs|CTNNBL1_ENST00000373473.1_Frame_Shift_Ins_p.M255fs	NM_030877.3	NP_110517.2	Q8WYA6	CTBL1_HUMAN	catenin, beta like 1	442					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)				GTTGACAGACTAATGGAGTTGC	0.46																																					Ovarian(184;582 2038 3273 4106 42608)											0																																										SO:0001589	frameshift_variant	56259			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.1324dupA	20.37:g.36470753_36470753dupA	ENSP00000355050:p.Met442fs		B4DE16|Q0VAL9|Q0VAM0|Q53HI8|Q5JWZ2|Q5JWZ3|Q5JWZ7|Q5JWZ8|Q8N454|Q8NCL2|Q8TBD6|Q96KD2|Q9H7A5|Q9NQF9|Q9NTX0|Q9Y3M7	Frame_Shift_Ins	INS	ENST00000361383.6	37	CCDS13298.1																																																																																				0.46	CTNNBL1-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079125.1	NM_030877		A	36470752	-	A	36470751	7	5	723	1	0	1	1	0	0	0	0	0	4020	1522	53	0	1372	0	CTNNBL1	20	36470751	Frame_Shift_Ins	INS	-	TCGA-KM-8477-01A-11D-2310-10	14775404	36470751	26554769	52	40652	357	2									
CTNNBL1	56259	bcgsc.ca	37	20	36470752	36470753	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr20:36470752_36470753insA	ENST00000361383.6	+	13	1440_1441	c.1323_1324insA	c.(1324-1326)atgfs	p.M442fs	CTNNBL1_ENST00000373469.1_Frame_Shift_Ins_p.M190fs|CTNNBL1_ENST00000473857.1_3'UTR|CTNNBL1_ENST00000405275.2_Frame_Shift_Ins_p.M415fs|CTNNBL1_ENST00000373473.1_Frame_Shift_Ins_p.M255fs	NM_030877.3	NP_110517.2	Q8WYA6	CTBL1_HUMAN	catenin, beta like 1	442					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)				TTGACAGACTAATGGAGTTGCA	0.455																																					Ovarian(184;582 2038 3273 4106 42608)											0																																										SO:0001589	frameshift_variant	56259			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.1324dupA	20.37:g.36470753_36470753dupA	ENSP00000355050:p.Met442fs		B4DE16|Q0VAL9|Q0VAM0|Q53HI8|Q5JWZ2|Q5JWZ3|Q5JWZ7|Q5JWZ8|Q8N454|Q8NCL2|Q8TBD6|Q96KD2|Q9H7A5|Q9NQF9|Q9NTX0|Q9Y3M7	Frame_Shift_Ins	INS	ENST00000361383.6	37	CCDS13298.1																																																																																				0.455	CTNNBL1-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079125.1	NM_030877		A	36470753	-	A	36470752	7	5	723	1	0	1	1	0	0	0	0	0	4020	349	13	0	1373	0	CTNNBL1	20	36470752	Frame_Shift_Ins	INS	-	TCGA-KM-8477-01A-11D-2310-10	1	36470752	26554768	53	40653	357	2									
NTSR1	4923	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	20	61386087	61386087	+	Silent	SNP	G	G	T			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr20:61386087G>T	ENST00000370501.3	+	2	1136	c.765G>T	c.(763-765)ctG>ctT	p.L255L		NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	255					adult locomotory behavior (GO:0008344)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			TCTCGGTCCTGAACACCATCA	0.607																																					GBM(37;400 780 6403 19663 35669)											0													162	134	144					20																	61386087		2203	4300	6503	SO:0001819	synonymous_variant	4923				CCDS13502.1	20q13	2012-08-08			ENSG00000101188	ENSG00000101188		"GPCR / Class A : Neurotensin receptors"	8039	protein-coding gene	gene with protein product		162651				8075503	Standard	NM_002531		Approved	NTR	uc002ydf.3	P30989	OTTHUMG00000032932	ENST00000370501.3:c.765G>T	20.37:g.61386087G>T			Q9H4H1|Q9H4T5	Silent	SNP	ENST00000370501.3	37	CCDS13502.1																																																																																				0.607	NTSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080061.1			T	61386087	G	T	61386087	2	4	723	1	0	0	0	0	0	0	0	1	10712	1277	45	4		4	NTSR1	20	61386087	Silent	SNP	G	TCGA-KM-8477-01A-11D-2310-10	24915335	61386087	1639433	54	40654											
PRIC285	85441	ucsc.edu	37	20	62196705	62196705	+	Missense_Mutation	SNP	A	A	G			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr20:62196705A>G	ENST00000467148.1	-	8	3539	c.3470T>C	c.(3469-3471)gTc>gCc	p.V1157A	HELZ2_ENST00000427522.2_Missense_Mutation_p.V588A	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	1157					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)										GCGGCCCCTGACCTGGATGGG	0.711																																																0													9	10	9					20																	62196705		2164	4260	6424	SO:0001583	missense	85441			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.3470T>C	20.37:g.62196705A>G	ENSP00000417401:p.Val1157Ala		Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	A	11.49	1.653072	0.29336	.	.	ENSG00000130589	ENST00000427522;ENST00000467148	T;T	0.28069	1.63;1.63	4.63	4.63	0.57726	.	0.946184	0.08776	N	0.895455	T	0.31638	0.0803	L	0.44542	1.39	0.33592	D	0.601212	P;P	0.42692	0.682;0.787	B;B	0.39258	0.218;0.295	T	0.45644	-0.9247	10	0.87932	D	0	-24.4941	14.036	0.64644	1.0:0.0:0.0:0.0	.	1157;588	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	A	588;1157	ENSP00000393257:V588A;ENSP00000417401:V1157A	ENSP00000393257:V588A	V	-	2	0	RP4-697K14.7	61667149	1.000000	0.71417	0.505000	0.27651	0.119000	0.20118	5.905000	0.69893	1.724000	0.51502	0.402000	0.26972	GTC		0.711	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		G	62196705	A	G	62196705	3	3	723	1	0	0	0	0	1	0	0	0	12490	275	10	3	4527	3	PRIC285	20	62196705	Missense_Mutation	SNP	A	TCGA-KM-8477-01A-11D-2310-10	810618	62196705	828815	55	40655											
USP9X	8239	broad.mit.edu	37	X	41010226	41010226	+	Missense_Mutation	SNP	G	G	T			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chrX:41010226G>T	ENST00000324545.8	+	13	2312	c.1679G>T	c.(1678-1680)cGc>cTc	p.R560L	USP9X_ENST00000378308.2_Missense_Mutation_p.R560L	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	560					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						GAAGAACTTCGCACAAATGAC	0.338																																					Ovarian(172;1807 2695 35459 49286)											0													49	44	46					X																	41010226		2165	4277	6442	SO:0001583	missense	8239			X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"Ubiquitin-specific peptidases"	12632	protein-coding gene	gene with protein product		300072	"ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)", "ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)", "ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.1679G>T	X.37:g.41010226G>T	ENSP00000316357:p.Arg560Leu		O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.281499	0.59758	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.02974	4.1;4.09	5.19	5.19	0.71726	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.04952	0.0133	L	0.31664	0.95	0.80722	D	1	P;P	0.48640	0.913;0.858	P;B	0.47044	0.535;0.334	T	0.55952	-0.8059	10	0.37606	T	0.19	.	17.8627	0.88786	0.0:0.0:1.0:0.0	.	560;560	Q93008-1;Q93008	.;USP9X_HUMAN	L	560	ENSP00000367558:R560L;ENSP00000316357:R560L	ENSP00000316357:R560L	R	+	2	0	USP9X	40895170	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.357000	0.97099	2.151000	0.67156	0.468000	0.43344	CGC		0.338	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		T	41010226	G	T	41010226	3	4	723	1	0	0	0	0	1	0	0	0	17095	1087	38	4	1725	4	USP9X	23	41010226	Missense_Mutation	SNP	G	TCGA-KM-8477-01A-11D-2310-10		41010226	114260334	56	40656											
RBM10	8241	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	X	47041266	47041266	+	Splice_Site	SNP	G	G	A			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chrX:47041266G>A	ENST00000377604.3	+	15	2435		c.e15+1		RBM10_ENST00000345781.6_Splice_Site|RBM10_ENST00000329236.7_Splice_Site	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						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						AGCCAGTACCGTGAGTAGCCA	0.592																																					Melanoma(171;120 2705 19495 39241)											0													44	39	41					X																	47041266		2203	4300	6503	SO:0001630	splice_region_variant	8241			U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"Zinc fingers, RAN-binding domain containing", "G patch domain containing", "RNA binding motif (RRM) containing"	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.1693+1G>A	X.37:g.47041266G>A			C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Splice_Site	SNP	ENST00000377604.3	37	CCDS14274.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.293838	0.60086	.	.	ENSG00000182872	ENST00000377604;ENST00000329236;ENST00000345781	.	.	.	4.75	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.1129	0.53850	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RBM10	46926210	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.386000	0.66238	2.347000	0.79759	0.525000	0.51046	.		0.592	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	NM_005676	Intron	A	47041266	G	A	47041266	5	1	723	1	0	0	0	0	0	0	1	0	13117	1159	40	1	1748	1	RBM10	23	47041266	Splice_Site	SNP	G	TCGA-KM-8477-01A-11D-2310-10	6031040	47041266	108229294	57	40657											
BMP8A	353500	broad.mit.edu	37	1	39987055	39987055	+	Silent	SNP	C	C	T			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr1:39987055C>T	ENST00000331593.5	+	4	1027	c.681C>T	c.(679-681)agC>agT	p.S227S	RP11-69E11.4_ENST00000431553.1_RNA|RP11-69E11.4_ENST00000417869.1_RNA|RP11-69E11.4_ENST00000458207.1_RNA|RP11-69E11.4_ENST00000440190.1_RNA|RP11-69E11.4_ENST00000450157.1_RNA|RP11-69E11.4_ENST00000441741.1_RNA|RP11-69E11.4_ENST00000331856.2_RNA	NM_181809.3	NP_861525.2	Q7Z5Y6	BMP8A_HUMAN	bone morphogenetic protein 8a	227					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|diet induced thermogenesis (GO:0002024)|growth (GO:0040007)|negative regulation of insulin secretion (GO:0046676)|ossification (GO:0001503)|regulation of energy homeostasis (GO:2000505)	extracellular space (GO:0005615)				kidney(1)|large_intestine(2)|lung(1)|skin(1)	5	Lung NSC(20;2.08e-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;9.69e-19)|Epithelial(16;9.34e-17)|all cancers(16;1.73e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAGGGCACAGCGTGGATCCTG	0.672																																																0													17	15	16					1																	39987055		1801	3426	5227	SO:0001819	synonymous_variant	353500			AY303954	CCDS437.1	1p35-p32	2014-01-30			ENSG00000183682	ENSG00000183682		"Bone morphogenetic proteins", "Endogenous ligands"	21650	protein-coding gene	gene with protein product							Standard	NM_181809		Approved		uc001cdi.3	Q7Z5Y6	OTTHUMG00000008394	ENST00000331593.5:c.681C>T	1.37:g.39987055C>T			Q5T3A5	Silent	SNP	ENST00000331593.5	37	CCDS437.1																																																																																				0.672	BMP8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023079.1	NM_181809		T	39987055	C	T	39987055	2	4	724	1	0	0	0	0	0	0	0	1	1466	767	27	1		1	BMP8A	1	39987055	Silent	SNP	C	TCGA-KM-8639-01A-11D-2397-10		39987055	209263566	1	40658											
MYBPHL	343263	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	1	109840820	109840820	+	Missense_Mutation	SNP	C	C	A			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr1:109840820C>A	ENST00000357155.1	-	2	254	c.205G>T	c.(205-207)Gac>Tac	p.D69Y	MYBPHL_ENST00000477962.1_Intron	NM_001010985.2|NM_001265613.1	NP_001010985.2|NP_001252542.1	A2RUH7	MBPHL_HUMAN	myosin binding protein H-like	69	Ig-like C2-type 1.									central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)		TTCACTGTGTCCCCAACCTTC	0.532																																																0													177	156	163					1																	109840820		2203	4300	6503	SO:0001583	missense	343263			AK129834	CCDS30793.1	1p13	2013-02-11			ENSG00000221986	ENSG00000221986		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	30434	protein-coding gene	gene with protein product							Standard	NM_001010985		Approved		uc001dxk.1	A2RUH7	OTTHUMG00000012002	ENST00000357155.1:c.205G>T	1.37:g.109840820C>A	ENSP00000349678:p.Asp69Tyr		B7ZME5|Q5T2Z7	Missense_Mutation	SNP	ENST00000357155.1	37	CCDS30793.1	.	.	.	.	.	.	.	.	.	.	C	32	5.107050	0.94292	.	.	ENSG00000221986	ENST00000357155	T	0.47177	0.85	5.53	5.53	0.82687	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.62183	0.2407	M	0.72353	2.195	0.42276	D	0.992075	D;P	0.62365	0.991;0.942	D;P	0.68621	0.959;0.853	T	0.63296	-0.6669	9	0.66056	D	0.02	.	17.004	0.86388	0.0:1.0:0.0:0.0	.	69;69	B7ZME5;A2RUH7	.;MBPHL_HUMAN	Y	69	ENSP00000349678:D69Y	ENSP00000349678:D69Y	D	-	1	0	MYBPHL	109642343	1.000000	0.71417	0.979000	0.43373	0.996000	0.88848	7.240000	0.78192	2.882000	0.98803	0.655000	0.94253	GAC		0.532	MYBPHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033197.1	NM_001010985		A	109840820	C	A	109840820	3	1	724	1	0	0	0	0	1	0	0	0	10017	855	30	4	887	4	MYBPHL	1	109840820	Missense_Mutation	SNP	C	TCGA-KM-8639-01A-11D-2397-10	69853765	109840820	139409801	2	40659											
GSTM5	2949	mdanderson.org	37	1	110257835	110257836	+	Silent	DNP	CT	CT	TC	rs386634508|rs67757008|rs78183574|rs61744262	byFrequency	TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr1:110257835_110257836CT>TC	ENST00000256593.3	+	7	598_599	c.540_541CT>TC	c.(538-543)aaCTtg>aaTCtg	p.180_181NL>NL	GSTM5_ENST00000369812.5_Silent_p.199_200NL>NL|GSTM5_ENST00000369813.1_Silent_p.139_140NL>NL|GSTM5_ENST00000492718.1_3'UTR	NM_000851.3	NP_000842.2	P46439	GSTM5_HUMAN	glutathione S-transferase mu 5	180	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)	glutathione transferase activity (GO:0004364)			NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	CCTTCCTAAACTTGAAGGACTT	0.48																																																0																																										SO:0001819	synonymous_variant	2949			L02321	CCDS811.1	1p13.3	2012-06-21	2008-11-26		ENSG00000134201	ENSG00000134201	2.5.1.18	"Glutathione S-transferases / Soluble"	4637	protein-coding gene	gene with protein product		138385	"glutathione S-transferase M5"			8473333	Standard	NM_000851		Approved		uc001dyn.3	P46439	OTTHUMG00000011644	Exception_encountered	1.37:g.110257835_110257836delinsTC			A8K0V8|Q6PD78	Silent	DNP	ENST00000256593.3	37	CCDS811.1																																																																																				0.48	GSTM5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032200.1	NM_000851		TC	110257836	CT	TC	110257835	2	4	724	1	0	0	0	0	0	0	0	1	6843	564	20	2		2	GSTM5	1	110257835	Silent	DNP	CT	TCGA-KM-8639-01A-11D-2397-10	417015	110257835	138992786	3	40660											
RNPEP	6051	broad.mit.edu	37	1	201969125	201969125	+	Missense_Mutation	SNP	C	C	T	rs140770038		TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr1:201969125C>T	ENST00000295640.4	+	6	1229	c.1186C>T	c.(1186-1188)Cgc>Tgc	p.R396C	RNPEP_ENST00000367286.3_Missense_Mutation_p.R357C|RNPEP_ENST00000471105.1_3'UTR|RP11-465N4.4_ENST00000415582.1_RNA|RP11-465N4.4_ENST00000419190.1_RNA	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	396					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)		CAACAAGCTCCGCGTGAAGAT	0.567											OREG0014093	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(19;39 479 7473 13131 19462)											0													88	77	81					1																	201969125		2203	4300	6503	SO:0001583	missense	6051			BC001064	CCDS1418.1	1q32	2008-02-05			ENSG00000176393	ENSG00000176393	3.4.11.6		10078	protein-coding gene	gene with protein product		602675				9533033, 10467730	Standard	NM_020216		Approved		uc001gxd.3	Q9H4A4	OTTHUMG00000035866	ENST00000295640.4:c.1186C>T	1.37:g.201969125C>T	ENSP00000295640:p.Arg396Cys	2125	Q9BVM9|Q9H1D4|Q9NPT7	Missense_Mutation	SNP	ENST00000295640.4	37	CCDS1418.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.615601	0.46631	.	.	ENSG00000176393	ENST00000295640;ENST00000367286;ENST00000447312	T;T;T	0.06294	3.95;3.32;3.78	5.21	4.29	0.51040	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.64402	D	0.000004	T	0.15305	0.0369	L	0.45698	1.435	0.54753	D	0.999983	D;D	0.89917	1.0;1.0	D;D	0.85130	0.993;0.997	T	0.00719	-1.1595	10	0.36615	T	0.2	-16.7858	8.8552	0.35223	0.1475:0.7705:0.0:0.0821	.	404;396	Q7RU04;Q9H4A4	.;AMPB_HUMAN	C	396;357;265	ENSP00000295640:R396C;ENSP00000356255:R357C;ENSP00000389602:R265C	ENSP00000295640:R396C	R	+	1	0	RNPEP	200235748	0.985000	0.35326	0.533000	0.28001	0.993000	0.82548	2.471000	0.45127	2.432000	0.82394	0.491000	0.48974	CGC		0.567	RNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087345.1	NM_020216		T	201969125	C	T	201969125	3	4	724	1	0	0	0	0	1	0	0	0	13515	652	23	1	1208	1	RNPEP	1	201969125	Missense_Mutation	SNP	C	TCGA-KM-8639-01A-11D-2397-10	91711290	201969125	47281496	4	40661											
OBSCN	84033	broad.mit.edu	37	1	228471449	228471449	+	Missense_Mutation	SNP	C	C	T	rs376064743		TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr1:228471449C>T	ENST00000422127.1	+	33	9027	c.8983C>T	c.(8983-8985)Cgg>Tgg	p.R2995W	OBSCN_ENST00000359599.6_Missense_Mutation_p.R1842W|OBSCN_ENST00000284548.11_Missense_Mutation_p.R2995W|OBSCN_ENST00000570156.2_Missense_Mutation_p.R3424W|OBSCN_ENST00000366709.4_Missense_Mutation_p.R114W|OBSCN_ENST00000366707.4_Missense_Mutation_p.R114W	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2995	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)				GGCCCAGTCCCGGGCCCAGCT	0.647													c|||	1	0.000199681	0.0008	0.0	5008	,	,		18543	0.0		0.0	False		,,,				2504	0.0															0									TRP/ARG,TRP/ARG	1,4075		0,1,2037	43	49	47		8983,8983	5.6	1	1		47	0,8344		0,0,4172	no	missense,missense	OBSCN	NM_001098623.1,NM_052843.2	101,101	0,1,6209	TT,TC,CC		0.0,0.0245,0.0081	probably-damaging,probably-damaging	2995/7969,2995/6621	228471449	1,12419	2038	4172	6210	SO:0001583	missense	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.8983C>T	1.37:g.228471449C>T	ENSP00000409493:p.Arg2995Trp		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	c	18.95	3.732170	0.69189	2.45E-4	0.0	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000359599;ENST00000366706;ENST00000366704	T;T;T;T;T	0.04917	3.53;3.53;3.53;3.53;3.53	5.6	5.6	0.85130	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.315524	0.27447	N	0.019329	T	0.21761	0.0524	M	0.82323	2.585	0.24539	N	0.994075	D;D;D	0.71674	0.998;0.969;0.998	P;P;P	0.56916	0.809;0.533;0.764	T	0.10042	-1.0647	10	0.72032	D	0.01	.	12.695	0.56999	0.2754:0.7246:0.0:0.0	.	2995;2995;2995	Q5VST9;Q5VST9-2;Q5VST9-3	OBSCN_HUMAN;.;.	W	2995;2995;114;114;1842;694;401	ENSP00000284548:R2995W;ENSP00000409493:R2995W;ENSP00000355668:R114W;ENSP00000355670:R114W;ENSP00000352613:R1842W	ENSP00000284548:R2995W	R	+	1	2	OBSCN	226538072	1.000000	0.71417	0.972000	0.41901	0.013000	0.08279	4.607000	0.61133	2.637000	0.89404	0.550000	0.68814	CGG		0.647	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		T	228471449	C	T	228471449	3	4	724	1	0	0	0	0	1	0	0	0	10814	643	23	1	9109	1	OBSCN	1	228471449	Missense_Mutation	SNP	C	TCGA-KM-8639-01A-11D-2397-10	26502324	228471449	20779172	5	40662											
SLC4A5	57835	broad.mit.edu;mdanderson.org	37	2	74492256	74492256	+	Missense_Mutation	SNP	G	G	C			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr2:74492256G>C	ENST00000377634.4	-	9	936	c.537C>G	c.(535-537)gaC>gaG	p.D179E	RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000423644.1_Missense_Mutation_p.D179E|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000394019.2_Missense_Mutation_p.D179E|SLC4A5_ENST00000346834.4_Missense_Mutation_p.D179E|SLC4A5_ENST00000357822.5_Missense_Mutation_p.D179E|SLC4A5_ENST00000359484.4_Missense_Mutation_p.D115E|SLC4A5_ENST00000377632.1_Missense_Mutation_p.D179E|SLC4A5_ENST00000358683.4_Missense_Mutation_p.D115E					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						AGGAGCCACTGTCCAAATCCA	0.617																																																0													107	98	101					2																	74492256		2203	4300	6503	SO:0001583	missense	57835			AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"Solute carriers"	18168	protein-coding gene	gene with protein product		606757	"solute carrier family 4, sodium bicarbonate cotransporter, member 5"			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.537C>G	2.37:g.74492256G>C	ENSP00000366861:p.Asp179Glu			Missense_Mutation	SNP	ENST00000377634.4	37	CCDS1936.1	.	.	.	.	.	.	.	.	.	.	G	1.881	-0.457883	0.04508	.	.	ENSG00000188687	ENST00000394019;ENST00000451608;ENST00000346834;ENST00000359484;ENST00000423644;ENST00000358683;ENST00000357822;ENST00000377632;ENST00000377634;ENST00000425249;ENST00000432728	T;T;T;T;T;T;T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22;-1.22;-1.22;-1.22;-1.22;-1.22;-1.22	4.79	-1.45	0.08828	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.150608	0.64402	N	0.000015	T	0.43478	0.1249	N	0.02213	-0.635	0.25440	N	0.988106	B;B;B;B;B	0.19935	0.004;0.04;0.0;0.022;0.001	B;B;B;B;B	0.28991	0.009;0.078;0.005;0.097;0.012	T	0.47947	-0.9077	10	0.02654	T	1	.	5.4722	0.16676	0.4958:0.1464:0.3579:0.0	.	179;179;115;179;179	Q9BY07-4;E7EQT3;Q9BY07-7;Q9BY07;Q9BY07-3	.;.;.;S4A5_HUMAN;.	E	179;179;179;115;179;115;179;179;179;179;63	ENSP00000377587:D179E;ENSP00000251768:D179E;ENSP00000352461:D115E;ENSP00000395804:D179E;ENSP00000351513:D115E;ENSP00000350475:D179E;ENSP00000366859:D179E;ENSP00000366861:D179E;ENSP00000405678:D179E;ENSP00000414162:D63E	ENSP00000251768:D179E	D	-	3	2	SLC4A5	74345764	0.050000	0.20438	0.152000	0.22495	0.983000	0.72400	-0.518000	0.06267	-0.165000	0.10908	0.591000	0.81541	GAC		0.617	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206583.3			C	74492256	G	C	74492256	3	2	724	1	0	0	0	0	1	0	0	0	14663	1368	48	4	2968	4	SLC4A5	2	74492256	Missense_Mutation	SNP	G	TCGA-KM-8639-01A-11D-2397-10		74492256	168707117	6	40663											
PARD3B	117583	broad.mit.edu;hgsc.bcm.edu	37	2	206110537	206110538	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr2:206110537_206110538insA	ENST00000406610.2	+	16	2383_2384	c.2176_2177insA	c.(2176-2178)caafs	p.Q726fs	PARD3B_ENST00000351153.1_Frame_Shift_Ins_p.Q726fs|PARD3B_ENST00000462231.1_Frame_Shift_Ins_p.Q726fs|PARD3B_ENST00000358768.2_Frame_Shift_Ins_p.Q664fs|PARD3B_ENST00000349953.3_Frame_Shift_Ins_p.Q726fs	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	726					cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		ATTGGCTGGACAAAAATCGGGT	0.401																																																0																																										SO:0001589	frameshift_variant	117583			AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19", "par-3 partitioning defective 3 homolog B (C. elegans)"	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.2181dupA	2.37:g.206110542_206110542dupA	ENSP00000385848:p.Gln726fs		E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Frame_Shift_Ins	INS	ENST00000406610.2	37																																																																																					0.401	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177		A	206110538	-	A	206110537	7	5	724	1	0	1	1	0	0	0	0	0	11446	479	17	0	2238	0	PARD3B	2	206110537	Frame_Shift_Ins	INS	-	TCGA-KM-8639-01A-11D-2397-10	131618281	206110537	37088836	7	40664	358	2									
PARD3B	117583	bcgsc.ca	37	2	206110538	206110539	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr2:206110538_206110539insA	ENST00000406610.2	+	16	2384_2385	c.2177_2178insA	c.(2176-2181)caaaaafs	p.QK726fs	PARD3B_ENST00000351153.1_Frame_Shift_Ins_p.QK726fs|PARD3B_ENST00000462231.1_Frame_Shift_Ins_p.QK726fs|PARD3B_ENST00000358768.2_Frame_Shift_Ins_p.QK664fs|PARD3B_ENST00000349953.3_Frame_Shift_Ins_p.QK726fs	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	726					cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		TTGGCTGGACAAAAATCGGGTA	0.401																																																0																																										SO:0001589	frameshift_variant	117583			AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19", "par-3 partitioning defective 3 homolog B (C. elegans)"	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.2181dupA	2.37:g.206110542_206110542dupA	ENSP00000385848:p.Gln726fs		E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Frame_Shift_Ins	INS	ENST00000406610.2	37																																																																																					0.401	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177		A	206110539	-	A	206110538	7	5	724	1	0	1	1	0	0	0	0	0	11446	130	5	0	2239	0	PARD3B	2	206110538	Frame_Shift_Ins	INS	-	TCGA-KM-8639-01A-11D-2397-10	1	206110538	37088835	8	40665	358	2									
TRIP12	9320	broad.mit.edu	37	2	230650546	230650546	+	Missense_Mutation	SNP	A	A	C			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr2:230650546A>C	ENST00000283943.5	-	33	4974	c.4796T>G	c.(4795-4797)cTg>cGg	p.L1599R	TRIP12_ENST00000389045.3_Missense_Mutation_p.L1329R|TRIP12_ENST00000389044.4_Missense_Mutation_p.L1647R	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1599					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)		CGCCTGTTTCAGCAGCTCCTC	0.463																																																0													104	105	104					2																	230650546		2203	4300	6503	SO:0001583	missense	9320			L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.4796T>G	2.37:g.230650546A>C	ENSP00000283943:p.Leu1599Arg		D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	37	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.719648	0.89205	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	T;T;T	0.51817	0.69;0.69;0.69	5.66	5.66	0.87406	HECT (2);	0.000000	0.85682	D	0.000000	T	0.68284	0.2984	M	0.72576	2.205	0.80722	D	1	D;D;D	0.71674	0.995;0.998;0.995	D;D;D	0.78314	0.986;0.991;0.986	T	0.72080	-0.4398	10	0.87932	D	0	.	15.8971	0.79344	1.0:0.0:0.0:0.0	.	1329;1647;1599	Q14CF1;Q14CA3;Q14669	.;.;TRIPC_HUMAN	R	1599;1329;1647	ENSP00000283943:L1599R;ENSP00000373697:L1329R;ENSP00000373696:L1647R	ENSP00000283943:L1599R	L	-	2	0	TRIP12	230358790	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.860000	0.92272	2.150000	0.67090	0.477000	0.44152	CTG		0.463	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		C	230650546	A	C	230650546	3	2	724	1	0	0	0	0	1	0	0	0	16561	188	7	5	1218	5	TRIP12	2	230650546	Missense_Mutation	SNP	A	TCGA-KM-8639-01A-11D-2397-10	24540008	230650546	12548827	9	40666											
NCL	4691	broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	232325533	232325533	+	Missense_Mutation	SNP	T	T	C	rs375808034		TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr2:232325533T>C	ENST00000322723.4	-	4	898	c.658A>G	c.(658-660)Aaa>Gaa	p.K220E	SNORD82_ENST00000365530.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	220					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)		TTTGCAGCTTTCTTTCCTTTG	0.448																																																0								T	GLU/LYS	1,4405	2.1+/-5.4	0,1,2202	187	169	175		658	4.3	1	2		175	0,8600		0,0,4300	no	missense	NCL	NM_005381.2	56	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	benign	220/711	232325533	1,13005	2203	4300	6503	SO:0001583	missense	4691				CCDS33397.1	2q37.1	2013-09-19			ENSG00000115053	ENSG00000115053		"RNA binding motif (RRM) containing"	7667	protein-coding gene	gene with protein product		164035				2394707, 3409881	Standard	NM_005381		Approved	C23	uc002vru.3	P19338	OTTHUMG00000153866	ENST00000322723.4:c.658A>G	2.37:g.232325533T>C	ENSP00000318195:p.Lys220Glu		Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	Missense_Mutation	SNP	ENST00000322723.4	37	CCDS33397.1	.	.	.	.	.	.	.	.	.	.	T	16.95	3.263223	0.59431	2.27E-4	0.0	ENSG00000115053	ENST00000322723	T	0.40476	1.03	5.46	4.29	0.51040	.	0.232532	0.49916	D	0.000131	T	0.40171	0.1106	M	0.66939	2.045	0.42701	D	0.993619	B	0.29212	0.237	B	0.27887	0.084	T	0.40757	-0.9546	10	0.46703	T	0.11	-14.5577	10.8196	0.46597	0.0:0.0754:0.0:0.9246	.	220	P19338	NUCL_HUMAN	E	220	ENSP00000318195:K220E	ENSP00000318195:K220E	K	-	1	0	NCL	232033777	1.000000	0.71417	0.990000	0.47175	0.908000	0.53690	2.623000	0.46435	2.078000	0.62432	0.524000	0.50904	AAA		0.448	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332731.1	NM_005381		C	232325533	T	C	232325533	3	2	724	1	0	0	0	0	1	0	0	0	10228	1792	62	3	1518	3	NCL	2	232325533	Missense_Mutation	SNP	T	TCGA-KM-8639-01A-11D-2397-10	1674987	232325533	10873840	10	40667											
DNAJC13	23317	bcgsc.ca	37	3	132226100	132226100	+	Missense_Mutation	SNP	A	A	G	rs79953286	byFrequency	TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr3:132226100A>G	ENST00000260818.6	+	43	5266	c.5018A>G	c.(5017-5019)tAt>tGt	p.Y1673C		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1673					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						GACAAAACTTATGGATCAGAA	0.318													A|||	121	0.0241613	0.0023	0.0461	5008	,	,		17967	0.0		0.0586	False		,,,				2504	0.0276															0								A	CYS/TYR	60,4346	56.2+/-92.4	0,60,2143	158	161	160		5018	5.8	1	3	dbSNP_131	160	519,8081	146.3+/-201.9	15,489,3796	yes	missense	DNAJC13	NM_015268.3	194	15,549,5939	GG,GA,AA		6.0349,1.3618,4.4518	benign	1673/2244	132226100	579,12427	2203	4300	6503	SO:0001583	missense	23317			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.5018A>G	3.37:g.132226100A>G	ENSP00000260818:p.Tyr1673Cys		Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	CCDS33857.1	70	0.03205128205128205	3	0.006097560975609756	16	0.04419889502762431	0	0.0	51	0.06728232189973615	A	13.17	2.156410	0.38119	0.013618	0.060349	ENSG00000138246	ENST00000260818;ENST00000538066	T	0.18502	2.21	5.75	5.75	0.90469	Armadillo-type fold (1);	0.071085	0.64402	D	0.000016	T	0.01661	0.0053	L	0.38175	1.15	0.53688	D	0.999972	D	0.63046	0.992	P	0.49708	0.62	T	0.00130	-1.2014	10	0.54805	T	0.06	.	16.0503	0.80755	1.0:0.0:0.0:0.0	.	1673	O75165	DJC13_HUMAN	C	1673;320	ENSP00000260818:Y1673C	ENSP00000260818:Y1673C	Y	+	2	0	DNAJC13	133708790	1.000000	0.71417	0.977000	0.42913	0.998000	0.95712	5.344000	0.65981	2.181000	0.69327	0.477000	0.44152	TAT		0.318	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		G	132226100	A	G	132226100	3	3	724	1	0	0	0	0	1	0	0	0	4634	449	16	3	5184	3	DNAJC13	3	132226100	Missense_Mutation	SNP	A	TCGA-KM-8639-01A-11D-2397-10		132226100	65796330	11	40668											
OTOL1	131149	broad.mit.edu	37	3	161220991	161220991	+	Missense_Mutation	SNP	T	T	G			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr3:161220991T>G	ENST00000327928.4	+	4	695	c.695T>G	c.(694-696)aTg>aGg	p.M232R		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	232	Collagen-like 2.					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						aagggggagatgggggagaag	0.577																																																0													4	4	4					3																	161220991		1609	3660	5269	SO:0001583	missense	131149				CCDS46948.1	3q26.1	2011-05-19	2011-05-19			ENSG00000182447			34071	protein-coding gene	gene with protein product	"C1q and tumor necrosis factor related protein 15"		"otolin 1 homolog (zebrafish)"			17544811, 15905077	Standard	NM_001080440		Approved	C1QTNF15	uc011bpb.2	A6NHN0		ENST00000327928.4:c.695T>G	3.37:g.161220991T>G	ENSP00000330808:p.Met232Arg			Missense_Mutation	SNP	ENST00000327928.4	37	CCDS46948.1	.	.	.	.	.	.	.	.	.	.	t	2.467	-0.322756	0.05350	.	.	ENSG00000182447	ENST00000327928	D	0.93133	-3.17	.	.	.	.	.	.	.	.	T	0.77698	0.4169	N	0.02286	-0.61	0.19300	N	0.999973	.	.	.	.	.	.	T	0.67325	-0.5699	5	0.16896	T	0.51	.	.	.	.	.	232	A6NHN0	OTOL1_HUMAN	R	232	ENSP00000330808:M232R	ENSP00000330808:M232R	M	+	2	0	OTOL1	162703685	0.987000	0.35691	0.850000	0.33497	0.539000	0.34962	0.065000	0.14466	0.000000	0.14550	0.000000	0.15137	ATG		0.577	OTOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353184.1	NM_001080440		G	161220991	T	G	161220991	3	3	724	1	0	0	0	0	1	0	0	0	11306	1464	51	5	709	5	OTOL1	3	161220991	Missense_Mutation	SNP	T	TCGA-KM-8639-01A-11D-2397-10	28994891	161220991	36801439	12	40669											
CAMK2N2	94032	broad.mit.edu	37	3	183977958	183977959	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	GG	GG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr3:183977958_183977959delGG	ENST00000296238.3	-	2	403_404	c.226_227delCC	c.(226-228)ccgfs	p.P76fs	ECE2_ENST00000402825.3_Intron|EIF2B5_ENST00000444495.1_Intron	NM_033259.2	NP_150284.1	Q96S95	CK2N2_HUMAN	calcium/calmodulin-dependent protein kinase II inhibitor 2	76						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium-dependent protein kinase inhibitor activity (GO:0008427)					all_cancers(143;1.09e-10)|Ovarian(172;0.0339)		Epithelial(37;2.51e-33)|OV - Ovarian serous cystadenocarcinoma(80;5.69e-22)			CACTCCGGACGGCGGCTTCTCC	0.767																																																0																																										SO:0001589	frameshift_variant	94032			AY037149	CCDS3257.1	3q27.1	2006-03-27			ENSG00000163888	ENSG00000163888			24197	protein-coding gene	gene with protein product		608721				11444830, 9724800	Standard	NM_033259		Approved	CaM-KIIN	uc003fnj.1	Q96S95	OTTHUMG00000156821	ENST00000296238.3:c.226_227delCC	3.37:g.183977958_183977959delGG	ENSP00000296238:p.Pro76fs			Frame_Shift_Del	DEL	ENST00000296238.3	37	CCDS3257.1																																																																																				0.767	CAMK2N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346010.1	NM_033259		-	183977959	GG	-	183977958	7	5	724	1	0	1	0	1	0	0	0	0	2606	1116	39	0	16	0	CAMK2N2	3	183977958	Frame_Shift_Del	DEL	GG	TCGA-KM-8639-01A-11D-2397-10	22756967	183977958	14044472	13	40670											
ANKRD17	26057	broad.mit.edu;hgsc.bcm.edu	37	4	74012976	74012979	+	Frame_Shift_Del	DEL	TAAC	TAAC	-			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	TAAC	TAAC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr4:74012976_74012979delTAAC	ENST00000358602.4	-	9	1854_1857	c.1738_1741delGTTA	c.(1738-1743)gttaaafs	p.VK580fs	ANKRD17_ENST00000514252.1_Intron|ANKRD17_ENST00000330838.6_Frame_Shift_Del_p.VK580fs|ANKRD17_ENST00000509867.2_Frame_Shift_Del_p.VK467fs	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	580					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)			AATAAGTATTTAACTAACTCCAAA	0.363																																																0																																										SO:0001589	frameshift_variant	26057			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.1738_1741delGTTA	4.37:g.74012980_74012983delTAAC	ENSP00000351416:p.Val580fs		E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Frame_Shift_Del	DEL	ENST00000358602.4	37	CCDS34004.1																																																																																				0.363	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		-	74012979	TAAC	-	74012976	7	5	724	1	0	1	0	1	0	0	0	0	646	1763	61	0	6174	0	ANKRD17	4	74012976	Frame_Shift_Del	DEL	TAAC	TCGA-KM-8639-01A-11D-2397-10		74012976	117141300	14	40671	359	2									
ANKRD17	26057	bcgsc.ca	37	4	74012977	74012980	+	Frame_Shift_Del	DEL	TAAC	TAAC	-			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	TAAC	TAAC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr4:74012977_74012980delTAAC	ENST00000358602.4	-	9	1853_1856	c.1737_1740delGTTA	c.(1735-1740)ttgttafs	p.LL579fs	ANKRD17_ENST00000514252.1_Intron|ANKRD17_ENST00000330838.6_Frame_Shift_Del_p.LL579fs|ANKRD17_ENST00000509867.2_Frame_Shift_Del_p.LL466fs	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	579					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)			ATAAGTATTTAACTAACTCCAAAT	0.358																																																0																																										SO:0001589	frameshift_variant	26057			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.1737_1740delGTTA	4.37:g.74012977_74012980delTAAC	ENSP00000351416:p.Leu579fs		E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Frame_Shift_Del	DEL	ENST00000358602.4	37	CCDS34004.1																																																																																				0.358	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		-	74012980	TAAC	-	74012977	7	5	724	1	0	1	0	1	0	0	0	0	646	349	13	0	6175	0	ANKRD17	4	74012977	Frame_Shift_Del	DEL	TAAC	TCGA-KM-8639-01A-11D-2397-10	1	74012977	117141299	15	40672	359	2									
ABCE1	6059	mdanderson.org;bcgsc.ca	37	4	146044692	146044692	+	Missense_Mutation	SNP	A	A	G			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr4:146044692A>G	ENST00000296577.4	+	16	2095	c.1580A>G	c.(1579-1581)tAt>tGt	p.Y527C	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	527	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)					ATGGCCACCTATCTAGCGGAT	0.338																																																0													71	67	68					4																	146044692		2203	4297	6500	SO:0001583	missense	6059			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.1580A>G	4.37:g.146044692A>G	ENSP00000296577:p.Tyr527Cys		O88793|Q13181|Q13864|Q6NR76|Q96AL0|Q96B10|Q99K66	Missense_Mutation	SNP	ENST00000296577.4	37	CCDS34071.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.553083	0.86127	.	.	ENSG00000164163	ENST00000296577	D	0.85013	-1.93	5.69	5.69	0.88448	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.90034	0.6888	L	0.48218	1.51	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.91002	0.4843	10	0.87932	D	0	-16.4189	16.2484	0.82467	1.0:0.0:0.0:0.0	.	527	P61221	ABCE1_HUMAN	C	527	ENSP00000296577:Y527C	ENSP00000296577:Y527C	Y	+	2	0	ABCE1	146264142	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	9.201000	0.95017	2.291000	0.77112	0.533000	0.62120	TAT		0.338	ABCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365104.1	NM_002940		G	146044692	A	G	146044692	3	3	724	1	0	0	0	0	1	0	0	0	64	449	16	3	1638	3	ABCE1	4	146044692	Missense_Mutation	SNP	A	TCGA-KM-8639-01A-11D-2397-10	72031715	146044692	45109584	16	40673											
CLPTM1L	81037	hgsc.bcm.edu	37	5	1344897	1344897	+	Silent	SNP	C	C	A			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr5:1344897C>A	ENST00000320895.5	-	1	317	c.60G>T	c.(58-60)gtG>gtT	p.V20V	CLPTM1L_ENST00000320927.6_Silent_p.V20V	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	20					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		AGGTGTGCACCACGTAGACCA	0.721																																																0													24	22	23					5																	1344897		2188	4293	6481	SO:0001819	synonymous_variant	81037			AK027306	CCDS3862.1	5p15.33	2008-02-05			ENSG00000049656	ENSG00000049656			24308	protein-coding gene	gene with protein product	"cisplatin resistance related protein"	612585				11162647	Standard	NM_030782		Approved	FLJ14400, CRR9	uc003jch.3	Q96KA5	OTTHUMG00000131015	ENST00000320895.5:c.60G>T	5.37:g.1344897C>A			D3DTC1|Q658W6|Q7LG29|Q96AZ0|Q9H3N4	Silent	SNP	ENST00000320895.5	37	CCDS3862.1																																																																																				0.721	CLPTM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253649.2	NM_030782		A	1344897	C	A	1344897	2	1	724	1	0	0	0	0	0	0	0	1	3557	581	21	4		4	CLPTM1L	5	1344897	Silent	SNP	C	TCGA-KM-8639-01A-11D-2397-10		1344897	179570363	17	40674											
NUDT12	83594	hgsc.bcm.edu	37	5	102891744	102891744	+	Silent	SNP	G	G	A			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr5:102891744G>A	ENST00000230792.2	-	4	948	c.852C>T	c.(850-852)tgC>tgT	p.C284C	NUDT12_ENST00000507423.1_Silent_p.C266C|NUDT12_ENST00000515407.1_5'UTR	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	284					NAD catabolic process (GO:0019677)|NADP catabolic process (GO:0006742)	nucleus (GO:0005634)|peroxisome (GO:0005777)	metal ion binding (GO:0046872)|NAD+ diphosphatase activity (GO:0000210)|NADH pyrophosphatase activity (GO:0035529)			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		CACAGGTTGGGCAAAACTTGT	0.368																																																0													103	100	101					5																	102891744		2202	4300	6502	SO:0001819	synonymous_variant	83594			AL136592	CCDS4096.1, CCDS75284.1	5q15	2013-01-10			ENSG00000112874	ENSG00000112874		"Nudix motif containing", "Ankyrin repeat domain containing"	18826	protein-coding gene	gene with protein product	"nucleoside diphosphate linked moiety X-type motif 12"	609232				11230166	Standard	XM_005272095		Approved	DKFZP761I172	uc003koi.3	Q9BQG2	OTTHUMG00000128739	ENST00000230792.2:c.852C>T	5.37:g.102891744G>A			B3KUW2|Q8TAL7	Silent	SNP	ENST00000230792.2	37	CCDS4096.1																																																																																				0.368	NUDT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250650.1	NM_031438		A	102891744	G	A	102891744	2	1	724	1	0	0	0	0	0	0	0	1	10730	1195	42	2		2	NUDT12	5	102891744	Silent	SNP	G	TCGA-KM-8639-01A-11D-2397-10	101546847	102891744	78023516	18	40675											
FER	2241	mdanderson.org	37	5	108133967	108133967	+	Silent	SNP	A	A	G	rs2229085	byFrequency	TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr5:108133967A>G	ENST00000281092.4	+	3	468	c.84A>G	c.(82-84)gtA>gtG	p.V28V	FER_ENST00000502752.1_3'UTR|FER_ENST00000438717.2_5'UTR|FER_ENST00000536402.1_Silent_p.V28V	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	28	FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.|Important for interaction with membranes containing phosphoinositides.				actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		TGGAAACAGTAAAGAAATTTA	0.363													A|||	891	0.177915	0.2988	0.17	5008	,	,		17170	0.0575		0.167	False		,,,				2504	0.1554				Colon(146;1051 1799 9836 27344 47401)											0								A		1242,3162	427.0+/-341.4	179,884,1139	87	90	89		84	1.1	1	5	dbSNP_98	89	1534,7066	288.9+/-299.0	135,1264,2901	no	coding-synonymous	FER	NM_005246.2		314,2148,4040	GG,GA,AA		17.8372,28.2016,21.3473		28/823	108133967	2776,10228	2202	4300	6502	SO:0001819	synonymous_variant	2241			J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2.7.10.1	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "SH2 domain containing"	3655	protein-coding gene	gene with protein product	"phosphoprotein NCP94", "protein phosphatase 1, regulatory subunit 74"	176942					Standard	NM_005246		Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.84A>G	5.37:g.108133967A>G			B2RCR4|B4DSQ2|H2FLB8	Silent	SNP	ENST00000281092.4	37	CCDS4098.1																																																																																				0.363	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250664.1	NM_005246		G	108133967	A	G	108133967	2	3	724	1	0	0	0	0	0	0	0	1	5815	349	13	3		3	FER	5	108133967	Silent	SNP	A	TCGA-KM-8639-01A-11D-2397-10	5242223	108133967	72781293	19	40676											
ADAM19	8728	mdanderson.org	37	5	156997987	156997987	+	Splice_Site	SNP	T	T	C	rs200503236	byFrequency	TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr5:156997987T>C	ENST00000517905.1	-	2	140	c.96A>G	c.(94-96)agA>agG	p.R32R	ADAM19_ENST00000430702.2_5'UTR|ADAM19_ENST00000394020.1_Splice_Site_p.R34R|ADAM19_ENST00000257527.4_Splice_Site_p.R32R|AC106801.1_ENST00000518054.1_RNA			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	32				R -> SK (in Ref. 1; AAG50282). {ECO:0000305}.	heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCTCACTTCCTCCTGCCAATA	0.498																																																0													78	78	78					5																	156997987		2203	4300	6503	SO:0001630	splice_region_variant	8728			AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"ADAM metallopeptidase domain containing"	197	protein-coding gene	gene with protein product	"meltrin beta"	603640	"a disintegrin and metalloproteinase domain 19 (meltrin beta)"			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.95-1A>G	5.37:g.156997987T>C			Q9BZL5|Q9UHP2	Silent	SNP	ENST00000517905.1	37																																																																																					0.498	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	NM_033274	Silent	C	156997987	T	C	156997987	5	2	724	1	0	0	0	0	0	0	1	0	240	1565	54	3	2748	3	ADAM19	5	156997987	Splice_Site	SNP	T	TCGA-KM-8639-01A-11D-2397-10	48864020	156997987	23917273	20	40677											
ADAMTS2	9509	broad.mit.edu	37	5	178634608	178634608	+	Missense_Mutation	SNP	T	T	A			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr5:178634608T>A	ENST00000251582.7	-	4	898	c.797A>T	c.(796-798)tAc>tTc	p.Y266F	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.Y266F	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	266	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)		CTCGATGTTGTAGTCATCGTC	0.612																																																0													180	148	159					5																	178634608		2203	4300	6503	SO:0001583	missense	9509			AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"ADAM metallopeptidases with thrombospondin type 1 motif"	218	protein-coding gene	gene with protein product	"procollagen I N-proteinase", "procollagen N-endopeptidase"	604539	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.797A>T	5.37:g.178634608T>A	ENSP00000251582:p.Tyr266Phe			Missense_Mutation	SNP	ENST00000251582.7	37	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	T	13.90	2.376184	0.42105	.	.	ENSG00000087116	ENST00000251582;ENST00000274609	D;D	0.86497	-2.13;-2.13	5.58	5.58	0.84498	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (1);	0.293675	0.24341	N	0.039367	T	0.80287	0.4595	L	0.27053	0.805	0.46874	D	0.999233	B;B	0.17268	0.021;0.018	B;B	0.18263	0.013;0.021	T	0.74699	-0.3577	10	0.25751	T	0.34	.	14.9253	0.70871	0.0:0.0:0.0:1.0	.	266;266	O95450-2;O95450	.;ATS2_HUMAN	F	266	ENSP00000251582:Y266F;ENSP00000274609:Y266F	ENSP00000251582:Y266F	Y	-	2	0	ADAMTS2	178567214	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	7.808000	0.86044	2.126000	0.65437	0.459000	0.35465	TAC		0.612	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		A	178634608	T	A	178634608	3	1	724	1	0	0	0	0	1	0	0	0	265	1638	57	5	2989	5	ADAMTS2	5	178634608	Missense_Mutation	SNP	T	TCGA-KM-8639-01A-11D-2397-10	21636621	178634608	2280652	21	40678											
HLA-DRB5	3127	mdanderson.org	37	6	32487353	32487353	+	Missense_Mutation	SNP	T	T	C	rs114293611	byFrequency	TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr6:32487353T>C	ENST00000374975.3	-	3	508	c.446A>G	c.(445-447)aAt>aGt	p.N149S		NM_002125.3	NP_002116.2			major histocompatibility complex, class II, DR beta 5									p.N149S(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						ATAGAAACCATTCACAGAGCA	0.537													T|||	2089	0.417133	0.559	0.415	5008	,	,		9822	0.3304		0.4414	False		,,,				2504	0.2914															1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)						T	SER/ASN	1237,2619		353,531,1044	42	53	49		446	-9.4	0	6	dbSNP_132	49	2078,6142		542,994,2574	no	missense	HLA-DRB5	NM_002125.3	46	895,1525,3618	CC,CT,TT		25.2798,32.0799,27.4511	benign	149/267	32487353	3315,8761	1928	4110	6038	SO:0001583	missense	3127				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.446A>G	6.37:g.32487353T>C	ENSP00000364114:p.Asn149Ser			Missense_Mutation	SNP	ENST00000374975.3	37	CCDS4751.1	1029	0.47115384615384615	246	0.5	177	0.4889502762430939	256	0.44755244755244755	350	0.46174142480211083	.	0.054	-1.240602	0.01493	0.320799	0.252798	ENSG00000198502	ENST00000374975	T	0.02606	4.23	4.69	-9.39	0.00619	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.532611	0.22458	N	0.059800	T	0.00210	0.0006	N	0.01242	-0.935	0.80722	P	0.0	B;B	0.10296	0.0;0.003	B;B	0.13407	0.009;0.005	T	0.39643	-0.9604	9	0.12766	T	0.61	.	3.7772	0.08665	0.0982:0.418:0.1992:0.2846	.	76;149	Q29973;Q30154	.;DRB5_HUMAN	S	149	ENSP00000364114:N149S	ENSP00000364114:N149S	N	-	2	0	HLA-DRB5	32595331	0.000000	0.05858	0.004000	0.12327	0.270000	0.26580	-1.167000	0.03126	-1.562000	0.01682	-1.365000	0.01206	AAT		0.537	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076022.2	NM_002125		C	32487353	T	C	32487353	3	2	724	1	0	0	0	0	1	0	0	0	7211	1493	52	3	370	3	HLA-DRB5	6	32487353	Missense_Mutation	SNP	T	TCGA-KM-8639-01A-11D-2397-10		32487353	138627714	22	40679											
TREML2	79865	mdanderson.org	37	6	41165977	41165977	+	Silent	SNP	A	A	G	rs41273770	byFrequency	TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr6:41165977A>G	ENST00000483722.1	-	2	431	c.246T>C	c.(244-246)gaT>gaC	p.D82D		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	82	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)					TGGCCTGGGCATCGTCCTGCA	0.592													A|||	90	0.0179712	0.0008	0.0389	5008	,	,		22599	0.001		0.0318	False		,,,				2504	0.0297															0								A		31,4375		0,31,2172	132	116	121		246	0.6	0.2	6	dbSNP_127	121	365,8235		3,359,3938	no	coding-synonymous	TREML2	NM_024807.2		3,390,6110	GG,GA,AA		4.2442,0.7036,3.0447		82/322	41165977	396,12610	2203	4300	6503	SO:0001819	synonymous_variant	79865			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.246T>C	6.37:g.41165977A>G			Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	Silent	SNP	ENST00000483722.1	37	CCDS4853.2																																																																																				0.592	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043756.3	NM_024807		G	41165977	A	G	41165977	2	3	724	1	0	0	0	0	0	0	0	1	16478	214	8	3		3	TREML2	6	41165977	Silent	SNP	A	TCGA-KM-8639-01A-11D-2397-10	8678624	41165977	129949090	23	40680											
INTS1	26173	bcgsc.ca	37	7	1513878	1513878	+	Missense_Mutation	SNP	G	G	T			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr7:1513878G>T	ENST00000404767.3	-	41	5840	c.5755C>A	c.(5755-5757)Cag>Aag	p.Q1919K	INTS1_ENST00000389470.4_Missense_Mutation_p.Q2123K	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	1919					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)		ACGTGCGGCTGCAGCAGCTCC	0.692											OREG0017827	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													19	26	24					7																	1513878		2102	4209	6311	SO:0001583	missense	26173			AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.5755C>A	7.37:g.1513878G>T	ENSP00000385722:p.Gln1919Lys	596	A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	ENST00000404767.3	37	CCDS47526.1	.	.	.	.	.	.	.	.	.	.	G	19.30	3.801455	0.70682	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.66815	-0.23;-0.23	4.5	4.5	0.54988	.	0.109676	0.64402	D	0.000004	T	0.63236	0.2494	M	0.68952	2.095	0.54753	D	0.999987	P	0.39116	0.66	B	0.31101	0.124	T	0.71718	-0.4508	10	0.62326	D	0.03	.	17.368	0.87368	0.0:0.0:1.0:0.0	.	1919	Q8N201	INT1_HUMAN	K	1919;2123	ENSP00000385722:Q1919K;ENSP00000374121:Q2123K	ENSP00000374121:Q2123K	Q	-	1	0	INTS1	1480404	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.165000	0.94761	2.351000	0.79841	0.561000	0.74099	CAG		0.692	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1			T	1513878	G	T	1513878	3	4	724	1	0	0	0	0	1	0	0	0	7777	1328	46	4	849	4	INTS1	7	1513878	Missense_Mutation	SNP	G	TCGA-KM-8639-01A-11D-2397-10		1513878	157624785	24	40681											
CDK13	8621	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	7	40132819	40132819	+	Missense_Mutation	SNP	C	C	G			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr7:40132819C>G	ENST00000181839.4	+	13	4276	c.3671C>G	c.(3670-3672)cCt>cGt	p.P1224R	CDK13_ENST00000340829.5_Missense_Mutation_p.P1164R	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	1224					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						CCTCCAGAACCTAGCACTCCG	0.453																																																0													56	48	51					7																	40132819		2203	4299	6502	SO:0001583	missense	8621			M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"Cyclin-dependent kinases"	1733	protein-coding gene	gene with protein product	"cholinesterase-related cell division controller"	603309	"cell division cycle 2-like 5 (cholinesterase-related cell division controller)"	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.3671C>G	7.37:g.40132819C>G	ENSP00000181839:p.Pro1224Arg		Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Missense_Mutation	SNP	ENST00000181839.4	37	CCDS5461.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.277727	0.80692	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	T;T	0.56444	0.46;0.46	5.68	5.68	0.88126	.	.	.	.	.	T	0.69975	0.3171	L	0.53249	1.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.65212	-0.6223	8	.	.	.	-11.1096	20.1615	0.98135	0.0:1.0:0.0:0.0	.	1164;1224	Q14004-2;Q14004	.;CDK13_HUMAN	R	1224;1164	ENSP00000181839:P1224R;ENSP00000340557:P1164R	.	P	+	2	0	CDK13	40099344	1.000000	0.71417	0.991000	0.47740	0.666000	0.39218	4.707000	0.61852	2.835000	0.97688	0.650000	0.86243	CCT		0.453	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2	NM_003718		G	40132819	C	G	40132819	3	3	724	1	0	0	0	0	1	0	0	0	3131	681	24	4	3721	4	CDK13	7	40132819	Missense_Mutation	SNP	C	TCGA-KM-8639-01A-11D-2397-10	38618941	40132819	119005844	25	40682											
CNOT4	4850	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	7	135079031	135079031	+	Silent	SNP	T	T	C			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr7:135079031T>C	ENST00000315544.5	-	10	1545	c.1266A>G	c.(1264-1266)gaA>gaG	p.E422E	CNOT4_ENST00000423368.2_Silent_p.E422E|CNOT4_ENST00000414802.1_Intron|CNOT4_ENST00000428680.2_Silent_p.E419E|CNOT4_ENST00000356162.4_Intron|CNOT4_ENST00000541284.1_Silent_p.E422E|CNOT4_ENST00000361528.4_Silent_p.E419E|CNOT4_ENST00000451834.1_Silent_p.E419E	NM_001190848.1	NP_001177777.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	422					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						GAACGGACAGTTCCTTCTCAA	0.488																																					Ovarian(51;766 1130 5502 35047 50875)											0													134	135	134					7																	135079031		1979	4155	6134	SO:0001819	synonymous_variant	4850			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.1266A>G	7.37:g.135079031T>C			B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Silent	SNP	ENST00000315544.5	37	CCDS55166.1																																																																																				0.488	CNOT4-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_013316		C	135079031	T	C	135079031	2	2	724	1	0	0	0	0	0	0	0	1	3623	1722	60	3		3	CNOT4	7	135079031	Silent	SNP	T	TCGA-KM-8639-01A-11D-2397-10	94946212	135079031	24059632	26	40683											
ANXA13	312	bcgsc.ca	37	8	124710664	124710664	+	Missense_Mutation	SNP	C	C	T	rs6995099	byFrequency	TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr8:124710664C>T	ENST00000419625.1	-	4	394	c.322G>A	c.(322-324)Gtc>Atc	p.V108I	ANXA13_ENST00000262219.6_Missense_Mutation_p.V149I	NM_004306.2	NP_004297.2	P27216	ANX13_HUMAN	annexin A13	108			V -> I (in dbSNP:rs6995099).		cell differentiation (GO:0030154)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|exocytic vesicle (GO:0070382)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylglycerol binding (GO:1901611)|phosphatidylserine binding (GO:0001786)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			TCAATGAGGACGGACTCATCT	0.597													C|||	257	0.0513179	0.0643	0.062	5008	,	,		19912	0.005		0.0845	False		,,,				2504	0.0399															0								C	ILE/VAL,ILE/VAL	313,4093	170.1+/-200.6	14,285,1904	108	98	102		445,322	-2.2	0	8	dbSNP_116	102	640,7960	163.6+/-216.1	20,600,3680	yes	missense,missense	ANXA13	NM_001003954.1,NM_004306.2	29,29	34,885,5584	TT,TC,CC		7.4419,7.1039,7.3274	benign,benign	149/358,108/317	124710664	953,12053	2203	4300	6503	SO:0001583	missense	312			Z11502	CCDS34939.1, CCDS47917.1	8q24.13	2005-11-09			ENSG00000104537	ENSG00000104537		"Annexins"	536	protein-coding gene	gene with protein product		602573		ANX13		9503022	Standard	NM_004306		Approved		uc003yqt.3	P27216	OTTHUMG00000164987	ENST00000419625.1:c.322G>A	8.37:g.124710664C>T	ENSP00000390809:p.Val108Ile		Q9BQR5	Missense_Mutation	SNP	ENST00000419625.1	37	CCDS47917.1	129	0.059065934065934064	39	0.07926829268292683	24	0.06629834254143646	1	0.0017482517482517483	65	0.08575197889182058	C	13.11	2.138053	0.37728	0.071039	0.074419	ENSG00000104537	ENST00000262219;ENST00000419625;ENST00000520519	T;T;T	0.03635	3.86;3.86;3.86	5.67	-2.2	0.06994	Annexin repeat, conserved site (1);	0.422095	0.27956	N	0.017164	T	0.00144	0.0004	M	0.63208	1.945	0.53005	P	3.100000000000325E-5	P;P	0.37731	0.607;0.553	B;B	0.33690	0.168;0.105	T	0.34625	-0.9821	9	0.48119	T	0.1	.	0.8559	0.01182	0.2909:0.2147:0.2937:0.2007	rs6995099;rs52822457;rs59748842;rs6995099	108;149	P27216;P27216-2	ANX13_HUMAN;.	I	149;108;79	ENSP00000262219:V149I;ENSP00000390809:V108I;ENSP00000429358:V79I	ENSP00000262219:V149I	V	-	1	0	ANXA13	124779845	0.021000	0.18746	0.014000	0.15608	0.633000	0.38033	0.327000	0.19663	-0.417000	0.07461	-0.291000	0.09656	GTC		0.597	ANXA13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381308.1	NM_004306		T	124710664	C	T	124710664	3	4	724	1	0	0	0	0	1	0	0	0	717	536	19	1	660	1	ANXA13	8	124710664	Missense_Mutation	SNP	C	TCGA-KM-8639-01A-11D-2397-10		124710664	21653358	27	40684											
RMI1	80010	bcgsc.ca	37	9	86616443	86616443	+	Missense_Mutation	SNP	T	T	C	rs200956667		TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr9:86616443T>C	ENST00000325875.3	+	3	874	c.542T>C	c.(541-543)tTa>tCa	p.L181S		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	181					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						GGTGTTCTCTTATTGAAACCA	0.358																																																0								T	SER/LEU	1,4405	2.1+/-5.4	0,1,2202	68	71	70		542	5.8	1	9		70	3,8597	2.2+/-6.3	0,3,4297	yes	missense	RMI1	NM_024945.2	145	0,4,6499	CC,CT,TT		0.0349,0.0227,0.0308	probably-damaging	181/626	86616443	4,13002	2203	4300	6503	SO:0001583	missense	80010			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.542T>C	9.37:g.86616443T>C	ENSP00000317039:p.Leu181Ser		Q05BX1|Q05CW3|Q5SQG8|Q5SQG9|Q6P1Q4|Q6PI89|Q7Z6L6	Missense_Mutation	SNP	ENST00000325875.3	37	CCDS6669.1	.	.	.	.	.	.	.	.	.	.	T	17.94	3.512493	0.64522	2.27E-4	3.49E-4	ENSG00000178966	ENST00000445877;ENST00000325875	T;T	0.61859	0.07;0.64	5.76	5.76	0.90799	.	0.000000	0.64402	D	0.000001	D	0.82393	0.5027	M	0.93375	3.41	0.58432	D	0.999998	D	0.89917	1.0	D	0.85130	0.997	D	0.87110	0.2184	10	0.87932	D	0	-7.9991	16.3668	0.83335	0.0:0.0:0.0:1.0	.	181	Q9H9A7	RMI1_HUMAN	S	181	ENSP00000402433:L181S;ENSP00000317039:L181S	ENSP00000317039:L181S	L	+	2	0	RMI1	85806263	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	4.994000	0.63901	2.322000	0.78497	0.528000	0.53228	TTA		0.358	RMI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052870.1	NM_024945		C	86616443	T	C	86616443	3	2	724	1	0	0	0	0	1	0	0	0	13401	1764	61	3	544	3	RMI1	9	86616443	Missense_Mutation	SNP	T	TCGA-KM-8639-01A-11D-2397-10		86616443	54596988	28	40685											
TSC1	7248	broad.mit.edu;hgsc.bcm.edu	37	9	135779084	135779093	+	Frame_Shift_Del	DEL	CGGAGGAGCC	CGGAGGAGCC	-	rs397514803		TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	CGGAGGAGCC	CGGAGGAGCC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr9:135779084_135779093delCGGAGGAGCC	ENST00000298552.3	-	17	2374_2383	c.2153_2162delGGCTCCTCCG	c.(2152-2163)cggctcctccgcfs	p.RLLR718fs	TSC1_ENST00000545250.1_Frame_Shift_Del_p.RLLR667fs|TSC1_ENST00000440111.2_Frame_Shift_Del_p.RLLR718fs	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	718					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.R721fs*9(1)|p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		GATCACCTTGCGGAGGAGCCGCCTGTTCCG	0.533			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																													yes	Rec		Tuberous sclerosis 1	9	9q34	7248	tuberous sclerosis 1 gene		"E, O"	2	Unknown(1)|Deletion - Frameshift(1)	ovary(1)|bone(1)																																								SO:0001589	frameshift_variant	7248	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.2153_2162delGGCTCCTCCG	9.37:g.135779084_135779093delCGGAGGAGCC	ENSP00000298552:p.Arg718fs		B7Z897|Q5VVN5	Frame_Shift_Del	DEL	ENST00000298552.3	37	CCDS6956.1																																																																																				0.533	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054799.1			-	135779093	CGGAGGAGCC	-	135779084	7	5	724	1	0	1	0	1	0	0	0	0	16610	768	27	0	1360	0	TSC1	9	135779084	Frame_Shift_Del	DEL	CGGAGGAGCC	TCGA-KM-8639-01A-11D-2397-10	49162641	135779084	5434347	29	40686	360	2									
TSC1	7248	bcgsc.ca	37	9	135779085	135779094	+	Frame_Shift_Del	DEL	CGGAGGAGCC	CGGAGGAGCC	-	rs397514803|rs118203651		TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	CGGAGGAGCC	CGGAGGAGCC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr9:135779085_135779094delCGGAGGAGCC	ENST00000298552.3	-	17	2373_2382	c.2152_2161delGGCTCCTCCG	c.(2152-2163)ggctcctccggcfs	p.GSSG718fs	TSC1_ENST00000545250.1_Frame_Shift_Del_p.GSSG667fs|TSC1_ENST00000440111.2_Frame_Shift_Del_p.GSSG718fs	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	718					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		ATCACCTTGCGGAGGAGCCGCCTGTTCCGG	0.533			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																													yes	Rec		Tuberous sclerosis 1	9	9q34	7248	tuberous sclerosis 1 gene		"E, O"	1	Unknown(1)	bone(1)																																								SO:0001589	frameshift_variant	7248	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.2152_2161delGGCTCCTCCG	9.37:g.135779085_135779094delCGGAGGAGCC	ENSP00000298552:p.Gly718fs		B7Z897|Q5VVN5	Frame_Shift_Del	DEL	ENST00000298552.3	37	CCDS6956.1																																																																																				0.533	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054799.1			-	135779094	CGGAGGAGCC	-	135779085	7	5	724	1	0	1	0	1	0	0	0	0	16610	1116	39	0	1361	0	TSC1	9	135779085	Frame_Shift_Del	DEL	CGGAGGAGCC	TCGA-KM-8639-01A-11D-2397-10	1	135779085	5434346	30	40687	360	2									
GPR158	57512	broad.mit.edu;mdanderson.org;bcgsc.ca	37	10	25464834	25464834	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr10:25464834G>A	ENST00000376351.3	+	1	844	c.485G>A	c.(484-486)tGg>tAg	p.W162*	GPR158-AS1_ENST00000449643.1_RNA	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	162					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GCGCTGGTGTGGAGCCTTCTG	0.632																																																0													70	67	68					10																	25464834		2203	4300	6503	SO:0001587	stop_gained	57512			AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"GPCR / Class C : Orphans"	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.485G>A	10.37:g.25464834G>A	ENSP00000365529:p.Trp162*		Q6QR81|Q9ULT3	Nonsense_Mutation	SNP	ENST00000376351.3	37	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	G	39	7.370902	0.98241	.	.	ENSG00000151025	ENST00000376351	.	.	.	4.82	4.82	0.62117	.	0.314786	0.25961	N	0.027193	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	11.5502	0.50716	0.0817:0.0:0.9183:0.0	.	.	.	.	X	162	.	ENSP00000365529:W162X	W	+	2	0	GPR158	25504840	1.000000	0.71417	1.000000	0.80357	0.730000	0.41778	3.011000	0.49567	2.510000	0.84645	0.467000	0.42956	TGG		0.632	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		A	25464834	G	A	25464834	4	1	724	1	0	0	0	0	0	1	0	0	6665	1357	47	2	487	2	GPR158	10	25464834	Nonsense_Mutation	SNP	G	TCGA-KM-8639-01A-11D-2397-10		25464834	110069913	31	40688											
ZNF33A	7581	bcgsc.ca	37	10	38344700	38344700	+	Missense_Mutation	SNP	C	C	G	rs2505232	byFrequency	TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr10:38344700C>G	ENST00000458705.2	+	5	1803	c.1645C>G	c.(1645-1647)Cag>Gag	p.Q549E	ZNF33A_ENST00000374618.3_Missense_Mutation_p.Q550E|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000432900.2_Missense_Mutation_p.Q556E|ZNF33A_ENST00000307441.9_Missense_Mutation_p.Q549E			Q06730	ZN33A_HUMAN	zinc finger protein 33A	549			Q -> E (in dbSNP:rs2505232). {ECO:0000269|PubMed:14702039}.		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(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						ACACACAGGGCAGAAACCCTT	0.433													G|||	2389	0.477037	0.5272	0.5173	5008	,	,		19110	0.5754		0.493	False		,,,				2504	0.2628															0								G	GLU/GLN,GLU/GLN	2268,2138	579.8+/-385.0	553,1162,488	100	102	102		1648,1645	1.7	1	10	dbSNP_100	102	4103,4497	591.5+/-392.8	963,2177,1160	no	missense,missense	ZNF33A	NM_006954.1,NM_006974.2	29,29	1516,3339,1648	GG,GC,CC		47.7093,48.5247,48.9851	benign,benign	550/812,549/811	38344700	6371,6635	2203	4300	6503	SO:0001583	missense	7581			D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"Zinc fingers, C2H2-type", "-"	13096	protein-coding gene	gene with protein product	"zinc finger and ZAK associated protein with KRAB domain"	194521	"zinc finger protein 33a (KOX 31)", "zinc finger protein 11A"	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.1645C>G	10.37:g.38344700C>G	ENSP00000387713:p.Gln549Glu		A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Missense_Mutation	SNP	ENST00000458705.2	37	CCDS31182.1	1117	0.5114468864468864	241	0.4898373983739837	181	0.5	314	0.548951048951049	381	0.5026385224274407	G	0.003	-2.414126	0.00191	0.514753	0.477093	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000307441	T;T;T;T	0.11712	2.75;2.75;2.75;2.75	1.68	1.68	0.24146	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36591	N	0.002514	T	0.00012	0.0000	N	0.00783	-1.19	0.58432	P	1.0000000000287557E-6	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.43572	-0.9383	9	0.02654	T	1	.	7.6052	0.28097	0.0:0.2686:0.7313:0.0	rs2505232;rs17609186;rs59756517;rs2505232	556;549;550	F6TH33;Q06730;F8WAJ5	.;ZN33A_HUMAN;.	E	550;556;549;549	ENSP00000363747:Q550E;ENSP00000402467:Q556E;ENSP00000387713:Q549E;ENSP00000304268:Q549E	ENSP00000304268:Q549E	Q	+	1	0	ZNF33A	38384706	1.000000	0.71417	0.973000	0.42090	0.105000	0.19272	4.342000	0.59341	0.044000	0.15775	-0.676000	0.03789	CAG		0.433	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	NM_006974		G	38344700	C	G	38344700	3	3	724	1	0	0	0	0	1	0	0	0	17859	711	25	4	1662	4	ZNF33A	10	38344700	Missense_Mutation	SNP	C	TCGA-KM-8639-01A-11D-2397-10	12879866	38344700	97190047	32	40689											
SEC23IP	11196	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	10	121652313	121652313	+	Missense_Mutation	SNP	A	A	C			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr10:121652313A>C	ENST00000369075.3	+	1	91	c.19A>C	c.(19-21)Aac>Cac	p.N7H	SEC23IP_ENST00000543134.1_5'UTR	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	7	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)		GAGAAAACCTAACGGTGGCAG	0.612																																																0													38	35	36					10																	121652313		2203	4300	6503	SO:0001583	missense	11196			AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651		"Sterile alpha motif (SAM) domain containing"	17018	protein-coding gene	gene with protein product						10400679	Standard	NM_007190		Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.19A>C	10.37:g.121652313A>C	ENSP00000358071:p.Asn7His		D3DRD2|Q8IXH5|Q9BUK5	Missense_Mutation	SNP	ENST00000369075.3	37	CCDS7618.1	.	.	.	.	.	.	.	.	.	.	A	17.29	3.352138	0.61183	.	.	ENSG00000107651	ENST00000369075	D	0.97209	-4.29	5.5	5.5	0.81552	.	0.123358	0.64402	D	0.000001	D	0.97148	0.9068	M	0.63843	1.955	0.80722	D	1	D	0.64830	0.994	P	0.57371	0.819	D	0.97201	0.9864	10	0.87932	D	0	-14.952	10.3789	0.44099	0.8533:0.0:0.0:0.1466	.	7	Q9Y6Y8	S23IP_HUMAN	H	7	ENSP00000358071:N7H	ENSP00000358071:N7H	N	+	1	0	SEC23IP	121642303	0.942000	0.31987	0.943000	0.38184	0.268000	0.26511	2.234000	0.43035	2.090000	0.63153	0.460000	0.39030	AAC		0.612	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050688.1			C	121652313	A	C	121652313	3	2	724	1	0	0	0	0	1	0	0	0	13999	362	13	5	21	5	SEC23IP	10	121652313	Missense_Mutation	SNP	A	TCGA-KM-8639-01A-11D-2397-10	83307613	121652313	13882434	33	40690											
TRIM22	10346	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	11	5717467	5717467	+	Missense_Mutation	SNP	A	A	G			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr11:5717467A>G	ENST00000379965.3	+	2	282	c.5A>G	c.(4-6)gAt>gGt	p.D2G	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	2					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)		AGTGCAATGGATTTCTCAGTA	0.507																																					GBM(104;491 2336 5222)											0													73	79	77					11																	5717467		2201	4297	6498	SO:0001583	missense	10346			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.5A>G	11.37:g.5717467A>G	ENSP00000369299:p.Asp2Gly		Q05CQ0|Q15521	Missense_Mutation	SNP	ENST00000379965.3	37	CCDS41612.1	.	.	.	.	.	.	.	.	.	.	A	12.20	1.867032	0.32977	.	.	ENSG00000132274	ENST00000379965;ENST00000425490;ENST00000454828;ENST00000414641;ENST00000455293	T;T;T;T	0.72835	-0.23;-0.51;-0.16;-0.69	4.24	0.943	0.19531	.	.	.	.	.	T	0.49847	0.1581	N	0.11201	0.11	0.23559	N	0.99741	P;B;B	0.34662	0.462;0.053;0.113	B;B;B	0.31946	0.045;0.138;0.05	T	0.39683	-0.9602	9	0.72032	D	0.01	.	10.8196	0.46597	0.5695:0.4305:0.0:0.0	.	2;2;2	C9JWC5;Q8IYM9-2;Q8IYM9	.;.;TRI22_HUMAN	G	2	ENSP00000369299:D2G;ENSP00000400417:D2G;ENSP00000393250:D2G;ENSP00000396849:D2G	ENSP00000369299:D2G	D	+	2	0	TRIM22	5674043	0.005000	0.15991	0.241000	0.24154	0.214000	0.24535	-0.085000	0.11250	0.050000	0.15949	0.383000	0.25322	GAT		0.507	TRIM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143387.2	NM_006074		G	5717467	A	G	5717467	3	3	724	1	0	0	0	0	1	0	0	0	16501	333	12	3	7	3	TRIM22	11	5717467	Missense_Mutation	SNP	A	TCGA-KM-8639-01A-11D-2397-10		5717467	129289049	34	40691											
PACS1	55690	broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	66008957	66008957	+	Missense_Mutation	SNP	A	A	G			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr11:66008957A>G	ENST00000320580.4	+	22	2522	c.2489A>G	c.(2488-2490)cAc>cGc	p.H830R	PACS1_ENST00000524815.1_5'UTR|PACS1_ENST00000529757.1_Missense_Mutation_p.H366R	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	830					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						TGGCTGGGCCACCCCGGGGAG	0.617																																																0													47	35	39					11																	66008957		2200	4295	6495	SO:0001583	missense	55690			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.2489A>G	11.37:g.66008957A>G	ENSP00000316454:p.His830Arg		Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Missense_Mutation	SNP	ENST00000320580.4	37	CCDS8129.1	.	.	.	.	.	.	.	.	.	.	A	13.25	2.180267	0.38511	.	.	ENSG00000175115	ENST00000320580;ENST00000529757	T;T	0.40756	1.02;1.02	5.42	5.42	0.78866	.	0.318327	0.36703	N	0.002442	T	0.22282	0.0537	N	0.05078	-0.115	0.80722	D	1	B	0.25441	0.126	B	0.25614	0.062	T	0.12708	-1.0537	10	0.15066	T	0.55	-27.2436	13.2975	0.60305	1.0:0.0:0.0:0.0	.	830	Q6VY07	PACS1_HUMAN	R	830;366	ENSP00000316454:H830R;ENSP00000432858:H366R	ENSP00000316454:H830R	H	+	2	0	PACS1	65765533	0.257000	0.24022	1.000000	0.80357	0.979000	0.70002	1.621000	0.36986	2.196000	0.70406	0.533000	0.62120	CAC		0.617	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391690.2	NM_018026		G	66008957	A	G	66008957	3	3	724	1	0	0	0	0	1	0	0	0	11374	159	6	3	2575	3	PACS1	11	66008957	Missense_Mutation	SNP	A	TCGA-KM-8639-01A-11D-2397-10	60291490	66008957	68997559	35	40692											
RBM14	10432	broad.mit.edu	37	11	66384364	66384365	+	Frame_Shift_Ins	INS	-	-	T	rs543247447		TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr11:66384364_66384365insT	ENST00000310137.4	+	1	312_313	c.173_174insT	c.(172-177)cacgagfs	p.E59fs	RBM14-RBM4_ENST00000500635.2_Frame_Shift_Ins_p.E59fs|RBM4_ENST00000514361.3_Frame_Shift_Ins_p.E59fs|RBM14_ENST00000409372.1_Frame_Shift_Ins_p.E59fs|RBM14_ENST00000409738.4_Frame_Shift_Ins_p.E59fs|RBM14_ENST00000443702.1_Frame_Shift_Ins_p.E59fs|RBM4_ENST00000503028.2_5'UTR|RBM14_ENST00000393979.3_Frame_Shift_Ins_p.E59fs|RBM14-RBM4_ENST00000511114.1_3'UTR|RNU4-39P_ENST00000362455.1_RNA|RBM14-RBM4_ENST00000412278.2_Frame_Shift_Ins_p.E59fs	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	59	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|glucocorticoid receptor signaling pathway (GO:0042921)|histone deacetylation (GO:0016575)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to hormone (GO:0009725)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						CTGCACGGCCACGAGCTGCGGC	0.644																																																0																																										SO:0001589	frameshift_variant	100526737			AF080561	CCDS8147.1, CCDS55772.1, CCDS55773.1	11q13.2	2013-02-12			ENSG00000239306	ENSG00000239306		"RNA binding motif (RRM) containing"	14219	protein-coding gene	gene with protein product	"coactivator activator", "SYT interacting protein"	612409				9285794	Standard	NM_006328		Approved	SIP, SYTIP1, COAA, DKFZp779J0927	uc001oit.3	Q96PK6	OTTHUMG00000140380	Exception_encountered	11.37:g.66384364_66384365insT	ENSP00000311747:p.Glu59fs		B0LM41|B3KMN4|D6RGD8|O75932|Q2PYN1|Q53GV1|Q68DQ9|Q96PK5	Frame_Shift_Ins	INS	ENST00000310137.4	37	CCDS8147.1																																																																																				0.644	RBM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277128.1	NM_006328		T	66384365	-	T	66384364	7	5	724	1	0	1	1	0	0	0	0	0	13121	159	6	0	175	0	RBM14	11	66384364	Frame_Shift_Ins	INS	-	TCGA-KM-8639-01A-11D-2397-10	375407	66384364	68622152	36	40693											
BIRC3	330	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	11	102206944	102206944	+	Missense_Mutation	SNP	T	T	G			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr11:102206944T>G	ENST00000263464.3	+	7	4322	c.1572T>G	c.(1570-1572)caT>caG	p.H524Q	BIRC3_ENST00000532808.1_Missense_Mutation_p.H524Q	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	baculoviral IAP repeat containing 3	524	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)		TATATGAGCATTTATTTGGTG	0.294			T	MALT1	MALT																																		Dom	yes		11	11q22-q23	330	baculoviral IAP repeat-containing 3		L	0													83	89	87					11																	102206944		2203	4299	6502	SO:0001583	missense	330			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.1572T>G	11.37:g.102206944T>G	ENSP00000263464:p.His524Gln		Q16628|Q9HC27|Q9UP46	Missense_Mutation	SNP	ENST00000263464.3	37	CCDS8315.1	.	.	.	.	.	.	.	.	.	.	T	1.193	-0.634855	0.03584	.	.	ENSG00000023445	ENST00000263464;ENST00000532808;ENST00000532609	T;T	0.19532	2.14;2.14	5.19	2.8	0.32819	DEATH-like (2);Caspase Recruitment (3);	0.758047	0.13895	N	0.355330	T	0.09598	0.0236	N	0.12182	0.205	0.09310	N	1	B	0.11235	0.004	B	0.19666	0.026	T	0.38134	-0.9675	10	0.12430	T	0.62	.	4.7537	0.13073	0.1358:0.2514:0.0:0.6127	.	524	Q13489	BIRC3_HUMAN	Q	524;524;292	ENSP00000263464:H524Q;ENSP00000432907:H524Q	ENSP00000263464:H524Q	H	+	3	2	BIRC3	101712154	0.908000	0.30866	0.680000	0.29994	0.155000	0.21991	-0.157000	0.10085	0.994000	0.38892	0.482000	0.46254	CAT		0.294	BIRC3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394159.1	NM_001165		G	102206944	T	G	102206944	3	3	724	1	0	0	0	0	1	0	0	0	1436	1490	52	5	1594	5	BIRC3	11	102206944	Missense_Mutation	SNP	T	TCGA-KM-8639-01A-11D-2397-10	35822580	102206944	32799572	37	40694											
KCNH5	27133	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	14	63174364	63174364	+	Silent	SNP	C	C	T			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr14:63174364C>T	ENST00000322893.7	-	11	3097	c.2829G>A	c.(2827-2829)tcG>tcA	p.S943S	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	943	CAD (involved in subunit assembly). {ECO:0000250}.				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)		CGCTTTTTTCCGACAGTATTT	0.478																																																0													129	139	136					14																	63174364		2203	4300	6503	SO:0001819	synonymous_variant	27133			U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.2829G>A	14.37:g.63174364C>T			C9JP98	Silent	SNP	ENST00000322893.7	37	CCDS9756.1																																																																																				0.478	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		T	63174364	C	T	63174364	2	4	724	1	0	0	0	0	0	0	0	1	8037	639	23	1		1	KCNH5	14	63174364	Silent	SNP	C	TCGA-KM-8639-01A-11D-2397-10		63174364	44175176	38	40695											
VPS18	57617	bcgsc.ca	37	15	41191887	41191887	+	Missense_Mutation	SNP	G	G	T			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr15:41191887G>T	ENST00000220509.5	+	4	1210	c.871G>T	c.(871-873)Ggt>Tgt	p.G291C	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	291					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)		GATGGGGGATGGTGTGTTGTA	0.642																																																0													69	68	68					15																	41191887		2203	4300	6503	SO:0001583	missense	57617			AF308802	CCDS10069.1	15q14-q15	2006-12-19	2006-12-19		ENSG00000104142	ENSG00000104142			15972	protein-coding gene	gene with protein product		608551	"vacuolar protein sorting protein 18"			11250079, 16203730	Standard	NM_020857		Approved	KIAA1475, PEP3	uc001zne.3	Q9P253	OTTHUMG00000130135	ENST00000220509.5:c.871G>T	15.37:g.41191887G>T	ENSP00000220509:p.Gly291Cys		Q8TCG0|Q96DI3|Q9H268	Missense_Mutation	SNP	ENST00000220509.5	37	CCDS10069.1	.	.	.	.	.	.	.	.	.	.	G	19.79	3.892126	0.72524	.	.	ENSG00000104142	ENST00000220509	T	0.66638	-0.22	4.81	4.81	0.61882	Pep3/Vps18/deep orange (1);	0.000000	0.85682	D	0.000000	D	0.83041	0.5168	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85483	0.1180	10	0.87932	D	0	-28.7849	18.4344	0.90640	0.0:0.0:1.0:0.0	.	291	Q9P253	VPS18_HUMAN	C	291	ENSP00000220509:G291C	ENSP00000220509:G291C	G	+	1	0	VPS18	38979179	1.000000	0.71417	0.803000	0.32268	0.979000	0.70002	9.601000	0.98297	2.646000	0.89796	0.655000	0.94253	GGT		0.642	VPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252443.2			T	41191887	G	T	41191887	3	4	724	1	0	0	0	0	1	0	0	0	17199	1348	47	4	885	4	VPS18	15	41191887	Missense_Mutation	SNP	G	TCGA-KM-8639-01A-11D-2397-10		41191887	61339505	39	40696											
SPTBN5	51332	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	15	42143342	42143342	+	Missense_Mutation	SNP	C	C	T			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr15:42143342C>T	ENST00000320955.6	-	65	10977	c.10750G>A	c.(10750-10752)Gct>Act	p.A3584T	RNA5SP393_ENST00000363423.1_RNA	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3584	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)		GCTATGGAAGCTACTTTCTGA	0.617																																																0													33	36	35					15																	42143342		2037	4183	6220	SO:0001583	missense	51332			AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"beta V spectrin"	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.10750G>A	15.37:g.42143342C>T	ENSP00000317790:p.Ala3584Thr			Missense_Mutation	SNP	ENST00000320955.6	37		.	.	.	.	.	.	.	.	.	.	.	14.93	2.683294	0.47991	.	.	ENSG00000137877	ENST00000320955	T	0.30182	1.54	4.22	3.28	0.37604	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.220258	0.27886	N	0.017458	T	0.28797	0.0714	L	0.38175	1.15	0.09310	N	1	D	0.60160	0.987	P	0.47102	0.537	T	0.08534	-1.0717	10	0.48119	T	0.1	.	11.7679	0.51941	0.0:0.8225:0.1775:0.0	.	3584	Q9NRC6	SPTN5_HUMAN	T	3584	ENSP00000317790:A3584T	ENSP00000317790:A3584T	A	-	1	0	SPTBN5	39930634	0.000000	0.05858	0.005000	0.12908	0.042000	0.13812	-0.280000	0.08468	1.106000	0.41623	0.561000	0.74099	GCT		0.617	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		T	42143342	C	T	42143342	3	4	724	1	0	0	0	0	1	0	0	0	15127	797	28	2	290	2	SPTBN5	15	42143342	Missense_Mutation	SNP	C	TCGA-KM-8639-01A-11D-2397-10	951455	42143342	60388050	40	40697											
CYP1A2	1544	ucsc.edu	37	15	75047426	75047426	+	Silent	SNP	C	C	T	rs2470890	byFrequency	TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr15:75047426C>T	ENST00000343932.4	+	7	1611	c.1548C>T	c.(1546-1548)aaC>aaT	p.N516N		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	515					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)"	TCTCCATCAACTGAAGAAGAC	0.577													C|||	1183	0.236222	0.028	0.3271	5008	,	,		14798	0.1637		0.5964	False		,,,				2504	0.1575															0								C		547,3847	238.0+/-249.6	40,467,1690	30	28	28		1548	0.6	0.3	15	dbSNP_100	28	5619,2973	631.2+/-398.5	1863,1893,540	no	coding-synonymous	CYP1A2	NM_000761.3		1903,2360,2230	TT,TC,CC		34.602,12.4488,47.4819		516/517	75047426	6166,6820	2197	4296	6493	SO:0001819	synonymous_variant	1544			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.1548C>T	15.37:g.75047426C>T			Q16754|Q6NWU5|Q9BXX7|Q9UK49	Silent	SNP	ENST00000343932.4	37	CCDS32293.1																																																																																				0.577	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421263.2	NM_000761		T	75047426	C	T	75047426	2	4	724	1	0	0	0	0	0	0	0	1	4152	564	20	2		2	CYP1A2	15	75047426	Silent	SNP	C	TCGA-KM-8639-01A-11D-2397-10	32904084	75047426	27483966	41	40698											
AMDHD2	51005	broad.mit.edu	37	16	2570776	2570776	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr16:2570776delT	ENST00000293971.6	+	2	184	c.90delT	c.(88-90)gatfs	p.D30fs	AMDHD2_ENST00000302956.4_Frame_Shift_Del_p.D30fs|ATP6C_ENST00000569317.1_Intron|AMDHD2_ENST00000413459.3_Frame_Shift_Del_p.D30fs	NM_015944.3	NP_057028.2	Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2	30					carbohydrate metabolic process (GO:0005975)|N-acetylglucosamine metabolic process (GO:0006044)|N-acetylneuraminate catabolic process (GO:0019262)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|N-acetylglucosamine-6-phosphate deacetylase activity (GO:0008448)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						CCAGGGAGGATCTGTGGGTGC	0.746																																																0													11	13	12					16																	2570776		2178	4266	6444	SO:0001589	frameshift_variant	51005			AF132948	CCDS10471.1, CCDS53984.1	16p13.3	2008-02-05			ENSG00000162066	ENSG00000162066			24262	protein-coding gene	gene with protein product						10810093	Standard	NM_001145815		Approved	CGI-14	uc010uwc.2	Q9Y303	OTTHUMG00000128866	ENST00000293971.6:c.90delT	16.37:g.2570776delT	ENSP00000293971:p.Asp30fs		B4DL77|Q8WV54	Frame_Shift_Del	DEL	ENST00000293971.6	37																																																																																					0.746	AMDHD2-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000435652.1	NM_015944		-	2570776	T	-	2570776	7	5	724	1	0	1	0	1	0	0	0	0	568	1432	50	0	96	0	AMDHD2	16	2570776	Frame_Shift_Del	DEL	T	TCGA-KM-8639-01A-11D-2397-10		2570776	87783977	42	40699	361	2									
AMDHD2	51005	broad.mit.edu	37	16	2570778	2570778	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr16:2570778delT	ENST00000293971.6	+	2	186	c.92delT	c.(91-93)ctgfs	p.L31fs	AMDHD2_ENST00000302956.4_Frame_Shift_Del_p.L31fs|ATP6C_ENST00000569317.1_Intron|AMDHD2_ENST00000413459.3_Frame_Shift_Del_p.L31fs	NM_015944.3	NP_057028.2	Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2	31					carbohydrate metabolic process (GO:0005975)|N-acetylglucosamine metabolic process (GO:0006044)|N-acetylneuraminate catabolic process (GO:0019262)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|N-acetylglucosamine-6-phosphate deacetylase activity (GO:0008448)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						AGGGAGGATCTGTGGGTGCGC	0.741																																																0													11	13	12					16																	2570778		2182	4272	6454	SO:0001589	frameshift_variant	51005			AF132948	CCDS10471.1, CCDS53984.1	16p13.3	2008-02-05			ENSG00000162066	ENSG00000162066			24262	protein-coding gene	gene with protein product						10810093	Standard	NM_001145815		Approved	CGI-14	uc010uwc.2	Q9Y303	OTTHUMG00000128866	ENST00000293971.6:c.92delT	16.37:g.2570778delT	ENSP00000293971:p.Leu31fs		B4DL77|Q8WV54	Frame_Shift_Del	DEL	ENST00000293971.6	37																																																																																					0.741	AMDHD2-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000435652.1	NM_015944		-	2570778	T	-	2570778	7	5	724	1	0	1	0	1	0	0	0	0	568	1580	55	0	98	0	AMDHD2	16	2570778	Frame_Shift_Del	DEL	T	TCGA-KM-8639-01A-11D-2397-10	2	2570778	87783975	43	40700	361	2									
DNAJA2	10294	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	16	46991077	46991077	+	Missense_Mutation	SNP	G	G	A			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr16:46991077G>A	ENST00000317089.5	-	9	1318	c.1103C>T	c.(1102-1104)aCa>aTa	p.T368I		NM_005880.3	NP_005871.1	O60884	DNJA2_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 2	368					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)				TACCTCCTCTGTTTCTCCAAT	0.418																																																0													232	232	232					16																	46991077		2203	4300	6503	SO:0001583	missense	10294			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.1103C>T	16.37:g.46991077G>A	ENSP00000314030:p.Thr368Ile		B2R7L7|O14711	Missense_Mutation	SNP	ENST00000317089.5	37	CCDS10726.1	.	.	.	.	.	.	.	.	.	.	G	11.15	1.554228	0.27739	.	.	ENSG00000069345	ENST00000317089	T	0.37584	1.19	5.57	5.57	0.84162	.	0.049770	0.85682	D	0.000000	T	0.34919	0.0914	L	0.43923	1.385	0.49915	D	0.999831	B	0.16802	0.019	B	0.15484	0.013	T	0.06180	-1.0841	10	0.27785	T	0.31	-6.023	19.5403	0.95271	0.0:0.0:1.0:0.0	.	368	O60884	DNJA2_HUMAN	I	368	ENSP00000314030:T368I	ENSP00000314030:T368I	T	-	2	0	DNAJA2	45548578	1.000000	0.71417	0.985000	0.45067	0.937000	0.57800	5.020000	0.64066	2.623000	0.88846	0.561000	0.74099	ACA		0.418	DNAJA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256769.2			A	46991077	G	A	46991077	3	1	724	1	0	0	0	0	1	0	0	0	4614	1377	48	2	139	2	DNAJA2	16	46991077	Missense_Mutation	SNP	G	TCGA-KM-8639-01A-11D-2397-10	44420299	46991077	43363676	44	40701											
TMCO7	79613	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	16	68961835	68961835	+	Missense_Mutation	SNP	C	C	G			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr16:68961835C>G	ENST00000261778.1	+	13	2504	c.2492C>G	c.(2491-2493)tCt>tGt	p.S831C	RP11-521L9.1_ENST00000562790.1_lincRNA	NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	831						integral component of membrane (GO:0016021)											AGTCAGAAATCTGGAAGCGTA	0.522																																																0													57	59	58					16																	68961835		1957	4157	6114	SO:0001583	missense	79613				CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 7"	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.2492C>G	16.37:g.68961835C>G	ENSP00000261778:p.Ser831Cys		Q569F9|Q9H9K1	Missense_Mutation	SNP	ENST00000261778.1	37	CCDS45516.1	.	.	.	.	.	.	.	.	.	.	C	8.651	0.898148	0.17686	.	.	ENSG00000103047	ENST00000261778	.	.	.	5.37	4.42	0.53409	Armadillo-type fold (1);	1.039830	0.07516	N	0.909757	T	0.25531	0.0621	N	0.19112	0.55	0.09310	N	1	D	0.55800	0.973	P	0.46975	0.533	T	0.10314	-1.0635	9	0.48119	T	0.1	-0.0017	6.1402	0.20255	0.136:0.6561:0.1319:0.076	.	831	Q9C0B7	TMCO7_HUMAN	C	831	.	ENSP00000261778:S831C	S	+	2	0	TMCO7	67519336	0.003000	0.15002	0.002000	0.10522	0.156000	0.22039	1.705000	0.37867	1.269000	0.44280	0.655000	0.94253	TCT		0.522	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433471.2	XM_928235.2		G	68961835	C	G	68961835	3	3	724	1	0	0	0	0	1	0	0	0	16006	913	32	4	2542	4	TMCO7	16	68961835	Missense_Mutation	SNP	C	TCGA-KM-8639-01A-11D-2397-10	21970758	68961835	21392918	45	40702											
BCAR1	9564	broad.mit.edu	37	16	75263529	75263530	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr16:75263529_75263530delCT	ENST00000162330.5	-	7	2618_2619	c.2492_2493delAG	c.(2491-2493)aagfs	p.K831fs	BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000420641.3_Frame_Shift_Del_p.K849fs|BCAR1_ENST00000418647.3_Frame_Shift_Del_p.K877fs|BCAR1_ENST00000538440.2_Frame_Shift_Del_p.K831fs|RP11-331F4.4_ENST00000489723.1_RNA|BCAR1_ENST00000393422.2_Frame_Shift_Del_p.K849fs|BCAR1_ENST00000393420.6_Frame_Shift_Del_p.K849fs|BCAR1_ENST00000542031.2_Frame_Shift_Del_p.K829fs|BCAR1_ENST00000546196.1_Frame_Shift_Del_p.K802fs|BCAR1_ENST00000535626.2_Frame_Shift_Del_p.K683fs	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	831					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)		AGGCAGCGGCCTTGGTGGTGGC	0.668																																																0																																										SO:0001589	frameshift_variant	9564			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.2492_2493delAG	16.37:g.75263529_75263530delCT	ENSP00000162330:p.Lys831fs		B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Frame_Shift_Del	DEL	ENST00000162330.5	37	CCDS10915.1																																																																																				0.668	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269017.1	NM_014567		-	75263530	CT	-	75263529	7	5	724	1	0	1	0	1	0	0	0	0	1348	680	24	0	123	0	BCAR1	16	75263529	Frame_Shift_Del	DEL	CT	TCGA-KM-8639-01A-11D-2397-10	6301694	75263529	15091224	46	40703	362	2									
BCAR1	9564	broad.mit.edu	37	16	75263533	75263534	+	Frame_Shift_Ins	INS	-	-	T			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr16:75263533_75263534insT	ENST00000162330.5	-	7	2614_2615	c.2488_2489insA	c.(2488-2490)accfs	p.T830fs	BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000420641.3_Frame_Shift_Ins_p.T848fs|BCAR1_ENST00000418647.3_Frame_Shift_Ins_p.T876fs|BCAR1_ENST00000538440.2_Frame_Shift_Ins_p.T830fs|RP11-331F4.4_ENST00000489723.1_RNA|BCAR1_ENST00000393422.2_Frame_Shift_Ins_p.T848fs|BCAR1_ENST00000393420.6_Frame_Shift_Ins_p.T848fs|BCAR1_ENST00000542031.2_Frame_Shift_Ins_p.T828fs|BCAR1_ENST00000546196.1_Frame_Shift_Ins_p.T801fs|BCAR1_ENST00000535626.2_Frame_Shift_Ins_p.T682fs	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	830					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)		AGCGGCCTTGGTGGTGGCCACG	0.673																																																0																																										SO:0001589	frameshift_variant	9564			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.2489dupA	16.37:g.75263534_75263534dupT	ENSP00000162330:p.Thr830fs		B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Frame_Shift_Ins	INS	ENST00000162330.5	37	CCDS10915.1																																																																																				0.673	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269017.1	NM_014567		T	75263534	-	T	75263533	7	5	724	1	0	1	1	0	0	0	0	0	1348	1261	44	0	127	0	BCAR1	16	75263533	Frame_Shift_Ins	INS	-	TCGA-KM-8639-01A-11D-2397-10	4	75263533	15091220	47	40704	362	2									
USP10	9100	mdanderson.org	37	16	84797726	84797726	+	Silent	SNP	G	G	A	rs117002428	byFrequency	TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr16:84797726G>A	ENST00000219473.7	+	10	1802	c.1689G>A	c.(1687-1689)tcG>tcA	p.S563S	USP10_ENST00000570191.1_Silent_p.S567S	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	563	USP.				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						AAAACCACTCGGTCAATGAAG	0.478																																																0													45	47	46					16																	84797726		1883	4099	5982	SO:0001819	synonymous_variant	9100			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.1689G>A	16.37:g.84797726G>A			B2RDJ8|B4DS84|Q9BWG7|Q9NSL7	Silent	SNP	ENST00000219473.7	37	CCDS45537.1																																																																																				0.478	USP10-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433660.1			A	84797726	G	A	84797726	2	1	724	1	0	0	0	0	0	0	0	1	17046	1103	39	1		1	USP10	16	84797726	Silent	SNP	G	TCGA-KM-8639-01A-11D-2397-10	9534193	84797726	5557027	48	40705											
LMNB2	84823	broad.mit.edu	37	19	2434856	2434857	+	Frame_Shift_Ins	INS	-	-	A	rs140495297|rs567796688		TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr19:2434856_2434857insA	ENST00000582871.1	-	6	936_937	c.850_851insT	c.(850-852)cgcfs	p.R284fs	LMNB2_ENST00000325327.3_Frame_Shift_Ins_p.R304fs	NM_032737.3	NP_116126.3	Q03252	LMNB2_HUMAN	lamin B2	284	Coil 2.|Rod.					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)		CAGCTCCTCGCGAGCCGCACTG	0.708																																																0																																										SO:0001589	frameshift_variant	84823			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.850_851insT	19.37:g.2434856_2434857insA	ENSP00000462730:p.Arg284fs		O75292|Q14734|Q96DF6	Frame_Shift_Ins	INS	ENST00000582871.1	37																																																																																					0.708	LMNB2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_032737		A	2434857	-	A	2434856	7	5	724	1	0	1	1	0	0	0	0	0	8852	768	27	0	979	0	LMNB2	19	2434856	Frame_Shift_Ins	INS	-	TCGA-KM-8639-01A-11D-2397-10		2434856	56694127	49	40706											
TMED1	11018	broad.mit.edu;hgsc.bcm.edu	37	19	10943859	10943865	+	Frame_Shift_Del	DEL	CCAGCCG	CCAGCCG	-	rs140257821		TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	CCAGCCG	CCAGCCG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr19:10943859_10943865delCCAGCCG	ENST00000214869.2	-	4	588_594	c.490_496delCGGCTGG	c.(490-498)cggctggagfs	p.RLE164fs	TMED1_ENST00000588289.1_Frame_Shift_Del_p.RLE19fs|TMED1_ENST00000591695.1_Frame_Shift_Del_p.PGW102fs	NM_006858.2	NP_006849.1	Q13445	TMED1_HUMAN	transmembrane emp24 protein transport domain containing 1	164					cell-cell signaling (GO:0007267)|protein transport (GO:0015031)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|lung(2)|ovary(3)|prostate(1)|skin(1)	10						ATGCTGCGCTCCAGCCGGGTCCGCATG	0.623																																																0																																										SO:0001589	frameshift_variant	11018			U41804	CCDS12249.1	19p13.2	2008-02-05	2005-08-26			ENSG00000099203			17291	protein-coding gene	gene with protein product		605395	"transmembrane emp24 domain containing 1"			11466339, 8621446	Standard	NM_006858		Approved	ST2L, MGC1270, IL1RL1LG, Il1rl1l	uc002mpy.3	Q13445		ENST00000214869.2:c.490_496delCGGCTGG	19.37:g.10943859_10943865delCCAGCCG	ENSP00000214869:p.Arg164fs			Frame_Shift_Del	DEL	ENST00000214869.2	37	CCDS12249.1																																																																																				0.623	TMED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452614.1	NM_006858		-	10943865	CCAGCCG	-	10943859	7	5	724	1	0	1	0	1	0	0	0	0	16007	864	30	0	191	0	TMED1	19	10943859	Frame_Shift_Del	DEL	CCAGCCG	TCGA-KM-8639-01A-11D-2397-10	8509003	10943859	48185124	50	40707	363	2									
TMED1	11018	bcgsc.ca	37	19	10943860	10943866	+	Frame_Shift_Del	DEL	CCAGCCG	CCAGCCG	-	rs140257821		TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	CCAGCCG	CCAGCCG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr19:10943860_10943866delCCAGCCG	ENST00000214869.2	-	4	587_593	c.489_495delCGGCTGG	c.(487-495)accggctggfs	p.TGW163fs	TMED1_ENST00000588289.1_Frame_Shift_Del_p.TGW18fs|TMED1_ENST00000591695.1_Frame_Shift_Del_p.PAG102fs	NM_006858.2	NP_006849.1	Q13445	TMED1_HUMAN	transmembrane emp24 protein transport domain containing 1	163					cell-cell signaling (GO:0007267)|protein transport (GO:0015031)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|lung(2)|ovary(3)|prostate(1)|skin(1)	10						TGCTGCGCTCCAGCCGGGTCCGCATGG	0.623																																																0																																										SO:0001589	frameshift_variant	11018			U41804	CCDS12249.1	19p13.2	2008-02-05	2005-08-26			ENSG00000099203			17291	protein-coding gene	gene with protein product		605395	"transmembrane emp24 domain containing 1"			11466339, 8621446	Standard	NM_006858		Approved	ST2L, MGC1270, IL1RL1LG, Il1rl1l	uc002mpy.3	Q13445		ENST00000214869.2:c.489_495delCGGCTGG	19.37:g.10943860_10943866delCCAGCCG	ENSP00000214869:p.Thr163fs			Frame_Shift_Del	DEL	ENST00000214869.2	37	CCDS12249.1																																																																																				0.623	TMED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452614.1	NM_006858		-	10943866	CCAGCCG	-	10943860	7	5	724	1	0	1	0	1	0	0	0	0	16007	581	21	0	192	0	TMED1	19	10943860	Frame_Shift_Del	DEL	CCAGCCG	TCGA-KM-8639-01A-11D-2397-10	1	10943860	48185123	51	40708	363	2									
ZNF799	90576	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	12501695	12501695	+	Missense_Mutation	SNP	C	C	A	rs201843472		TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr19:12501695C>A	ENST00000430385.3	-	4	1717	c.1517G>T	c.(1516-1518)tGt>tTt	p.C506F	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000419318.1_Missense_Mutation_p.C474F	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	506					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						ACATGTGTTACACTCATAAGG	0.388													C|||	1	0.000199681	0.0	0.0014	5008	,	,		21476	0.0		0.0	False		,,,				2504	0.0															0													96	100	99					19																	12501695		2202	4300	6502	SO:0001583	missense	90576			BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"Zinc fingers, C2H2-type", "-"	28071	protein-coding gene	gene with protein product			"zinc finger protein 842"	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.1517G>T	19.37:g.12501695C>A	ENSP00000411084:p.Cys506Phe			Missense_Mutation	SNP	ENST00000430385.3	37	CCDS45989.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	15.76	2.928813	0.52759	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	D;D	0.85088	-1.94;-1.94	1.14	1.14	0.20703	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94238	0.8150	H	0.98295	4.195	0.37708	D	0.924487	D	0.76494	0.999	D	0.69479	0.964	D	0.94528	0.7733	9	0.87932	D	0	.	9.8115	0.40826	0.0:1.0:0.0:0.0	.	506	Q96GE5	ZN799_HUMAN	F	474;506	ENSP00000415278:C474F;ENSP00000411084:C506F	ENSP00000415278:C474F	C	-	2	0	ZNF799	12362695	0.984000	0.35163	0.023000	0.16930	0.370000	0.29829	3.155000	0.50700	0.922000	0.37019	0.195000	0.17529	TGT		0.388	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821		A	12501695	C	A	12501695	3	1	724	1	0	0	0	0	1	0	0	0	18171	478	17	4	418	4	ZNF799	19	12501695	Missense_Mutation	SNP	C	TCGA-KM-8639-01A-11D-2397-10	1557835	12501695	46627288	52	40709											
GIPC1	10755	broad.mit.edu	37	19	14593617	14593618	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr19:14593617_14593618insA	ENST00000393033.4	-	4	440_441	c.171_172insT	c.(169-174)cgcctcfs	p.L58fs	GIPC1_ENST00000586027.1_Frame_Shift_Ins_p.L58fs|GIPC1_ENST00000591349.1_Intron|GIPC1_ENST00000393029.3_Intron|GIPC1_ENST00000345425.2_Frame_Shift_Ins_p.L58fs|GIPC1_ENST00000393028.1_Intron	NM_005716.3	NP_005707.1	O14908	GIPC1_HUMAN	GIPC PDZ domain containing family, member 1	58					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						TGGAACACGAGGCGGGGCCGCA	0.718																																					Pancreas(33;78 923 2910 41023 52850)											0																																										SO:0001589	frameshift_variant	10755			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.171_172insT	19.37:g.14593617_14593618insA	ENSP00000376753:p.Leu58fs		A8K4I3|A8MZG3|Q9BTC9	Frame_Shift_Ins	INS	ENST00000393033.4	37	CCDS12310.1																																																																																				0.718	GIPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460239.2			A	14593618	-	A	14593617	7	5	724	1	0	1	1	0	0	0	0	0	6394	1000	35	0	853	0	GIPC1	19	14593617	Frame_Shift_Ins	INS	-	TCGA-KM-8639-01A-11D-2397-10	2091922	14593617	44535366	53	40710											
ZNF101	94039	broad.mit.edu;mdanderson.org;bcgsc.ca	37	19	19790063	19790063	+	Missense_Mutation	SNP	T	T	C			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr19:19790063T>C	ENST00000592502.1	+	4	375	c.265T>C	c.(265-267)Tgt>Cgt	p.C89R	ZNF101_ENST00000415784.2_5'UTR|ZNF101_ENST00000444249.2_3'UTR			Q8IZC7	ZN101_HUMAN	zinc finger protein 101	89					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						GATTCCTGATTGTCACCTGAA	0.443																																																0													93	84	87					19																	19790063		2203	4300	6503	SO:0001583	missense	94039			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.265T>C	19.37:g.19790063T>C	ENSP00000468049:p.Cys89Arg		C9JU83|Q0VDG9	Missense_Mutation	SNP	ENST00000592502.1	37	CCDS32971.1	.	.	.	.	.	.	.	.	.	.	T	0.221	-1.028890	0.02045	.	.	ENSG00000181896	ENST00000318110;ENST00000415440	T	0.14516	2.5	0.235	0.235	0.15431	.	.	.	.	.	T	0.05181	0.0138	N	0.08118	0	0.09310	N	0.999991	B	0.30914	0.3	B	0.22753	0.041	T	0.33954	-0.9848	9	0.51188	T	0.08	.	2.6085	0.04884	0.0:0.4385:0.0:0.5614	.	89	Q8IZC7	ZN101_HUMAN	R	89	ENSP00000319716:C89R	ENSP00000319716:C89R	C	+	1	0	ZNF101	19651063	0.000000	0.05858	0.256000	0.24389	0.257000	0.26127	-0.506000	0.06359	0.263000	0.21812	0.260000	0.18958	TGT		0.443	ZNF101-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460559.1	NM_033204		C	19790063	T	C	19790063	3	2	724	1	0	0	0	0	1	0	0	0	17719	1812	63	3	279	3	ZNF101	19	19790063	Missense_Mutation	SNP	T	TCGA-KM-8639-01A-11D-2397-10	5196446	19790063	39338920	54	40711											
CEACAM5	1048	mdanderson.org	37	19	42213772	42213772	+	Missense_Mutation	SNP	A	A	G	rs12971352	byFrequency	TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr19:42213772A>G	ENST00000221992.6	+	2	352	c.238A>G	c.(238-240)Ata>Gta	p.I80V	CEACAM5_ENST00000398599.4_Missense_Mutation_p.I80V|CEACAM7_ENST00000599715.1_5'Flank|CEACAM5_ENST00000405816.1_Missense_Mutation_p.I80V|CEA_ENST00000598976.1_Missense_Mutation_p.I80V	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	80	Ig-like 1.		I -> V (in dbSNP:rs12971352).		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)		CCGTCAAATTATAGGATATGT	0.478													a|||	818	0.163339	0.3986	0.1037	5008	,	,		18246	0.0		0.1958	False		,,,				2504	0.0225															0								A	VAL/ILE	1325,3081		310,705,1188	154	163	160		238	-1.3	0	19	dbSNP_121	160	1069,7531		115,839,3346	no	missense	CEACAM5	NM_004363.2	29	425,1544,4534	GG,GA,AA		12.4302,30.0726,18.4069	benign	80/703	42213772	2394,10612	2203	4300	6503	SO:0001583	missense	1048			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.238A>G	19.37:g.42213772A>G	ENSP00000221992:p.Ile80Val		H9KVA7	Missense_Mutation	SNP	ENST00000221992.6	37	CCDS12584.1	303|303	0.13873626373626374|0.13873626373626374	131|131	0.266260162601626|0.266260162601626	40|40	0.11049723756906077|0.11049723756906077	0|0	0.0|0.0	132|132	0.1741424802110818|0.1741424802110818	-|-	0.004|0.004	-2.303796|-2.303796	0.00240|0.00240	0.300726|0.300726	0.124302|0.124302	ENSG00000105388|ENSG00000105388	ENST00000221992;ENST00000405816;ENST00000378181|ENST00000398599	T;T|.	0.66099|.	-0.19;-0.19|.	2.56|2.56	-1.31|-1.31	0.09230|0.09230	Immunoglobulin V-set (1);Immunoglobulin-like fold (1);|.	.|.	.|.	.|.	.|.	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.11724|0.11724	0.165|0.165	0.80722|0.80722	P|P	0.0|0.0	B;B;B|.	0.12013|.	0.005;0.0;0.0|.	B;B;B|.	0.26517|.	0.07;0.005;0.016|.	T|T	0.44697|0.44697	-0.9311|-0.9311	8|4	0.05721|.	T|.	0.95|.	.|.	4.8298|4.8298	0.13434|0.13434	0.1374:0.4321:0.4306:0.0|0.1374:0.4321:0.4306:0.0	rs12971352|rs12971352	80;80;80|.	Q8N4D0;P06731;Q53G30|.	.;CEAM5_HUMAN;.|.	V|C	80|76	ENSP00000221992:I80V;ENSP00000385072:I80V|.	ENSP00000221992:I80V|.	I|Y	+|+	1|2	0|0	CEACAM5|CEACAM5	46905612|46905612	0.001000|0.001000	0.12720|0.12720	0.002000|0.002000	0.10522|0.10522	0.000000|0.000000	0.00434|0.00434	-0.284000|-0.284000	0.08422|0.08422	-0.113000|-0.113000	0.11958|0.11958	-2.226000|-2.226000	0.00293|0.00293	ATA|TAT		0.478	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363		G	42213772	A	G	42213772	3	3	724	1	0	0	0	0	1	0	0	0	3197	449	16	3	244	3	CEACAM5	19	42213772	Missense_Mutation	SNP	A	TCGA-KM-8639-01A-11D-2397-10	22423709	42213772	16915211	55	40712											
MYH7B	57644	broad.mit.edu;bcgsc.ca	37	20	33577581	33577581	+	Missense_Mutation	SNP	G	G	A			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr20:33577581G>A	ENST00000262873.7	+	18	1844	c.1752G>A	c.(1750-1752)atG>atA	p.M584I	MIR499A_ENST00000384903.1_RNA	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	542	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)			AGGAATGCATGTTCCCCAAGG	0.587																																																0													56	61	59					20																	33577581		2200	4300	6500	SO:0001583	missense	57644			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.1752G>A	20.37:g.33577581G>A	ENSP00000262873:p.Met584Ile		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.994859	0.93167	.	.	ENSG00000078814	ENST00000262873	T	0.71341	-0.56	4.5	4.5	0.54988	Myosin head, motor domain (2);	0.000000	0.45867	D	0.000321	T	0.81351	0.4804	L	0.54863	1.705	0.58432	D	0.999999	D	0.53885	0.963	D	0.76575	0.988	T	0.81892	-0.0724	10	0.51188	T	0.08	.	17.7562	0.88450	0.0:0.0:1.0:0.0	.	542	A7E2Y1	MYH7B_HUMAN	I	584	ENSP00000262873:M584I	ENSP00000262873:M584I	M	+	3	0	MYH7B	33041242	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.657000	0.98554	2.503000	0.84419	0.561000	0.74099	ATG		0.587	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		A	33577581	G	A	33577581	3	1	724	1	0	0	0	0	1	0	0	0	10042	1377	48	2	1822	2	MYH7B	20	33577581	Missense_Mutation	SNP	G	TCGA-KM-8639-01A-11D-2397-10		33577581	29447939	56	40713											
C20orf111	51526	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	20	42825743	42825743	+	Nonsense_Mutation	SNP	G	G	C			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr20:42825743G>C	ENST00000372970.2	-	6	1008	c.828C>G	c.(826-828)taC>taG	p.Y276*	OSER1_ENST00000255174.2_Nonsense_Mutation_p.Y276*			Q9NX31	OSER1_HUMAN	oxidative stress responsive serine-rich 1	276					cellular response to hydrogen peroxide (GO:0070301)												GAATATACAAGTAATACTCCA	0.448																																																0													106	104	105					20																	42825743		2203	4300	6503	SO:0001587	stop_gained	51526			AL035447	CCDS13327.1	20q13.11	2013-05-17	2013-05-17	2013-05-17	ENSG00000132823	ENSG00000132823			16105	protein-coding gene	gene with protein product	"peroxide-inducible transcript 1", "oxidative stress-responsive 1"		"chromosome 20 open reading frame 111"	C20orf111		17148688	Standard	NM_016470		Approved	dJ1183I21.1, HSPC207, Perit1, Osr1		Q9NX31	OTTHUMG00000032518	ENST00000372970.2:c.828C>G	20.37:g.42825743G>C	ENSP00000362061:p.Tyr276*		B2RCK4|O95912|Q9NZ84|Q9P0R8	Nonsense_Mutation	SNP	ENST00000372970.2	37	CCDS13327.1	.	.	.	.	.	.	.	.	.	.	G	36	5.646283	0.96704	.	.	ENSG00000132823	ENST00000255174;ENST00000372970	.	.	.	6.03	4.08	0.47627	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.52099	D	0.999946	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.4897	12.2023	0.54333	0.1364:0.0:0.8636:0.0	.	.	.	.	X	276	.	ENSP00000255174:Y276X	Y	-	3	2	C20orf111	42259157	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.336000	0.43938	1.547000	0.49401	0.655000	0.94253	TAC		0.448	OSER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079334.2	NM_016470		C	42825743	G	C	42825743	4	2	724	1	0	0	0	0	0	1	0	0	2082	1024	36	4	54	4	C20orf111	20	42825743	Nonsense_Mutation	SNP	G	TCGA-KM-8639-01A-11D-2397-10	9248162	42825743	20199777	57	40714											
NCOA3	8202	hgsc.bcm.edu	37	20	46279839	46279839	+	Silent	SNP	G	G	A	rs147879509|rs2664555|rs397778717|rs3830809		TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr20:46279839G>A	ENST00000371998.3	+	20	3956	c.3765G>A	c.(3763-3765)caG>caA	p.Q1255Q	NCOA3_ENST00000372004.3_Silent_p.Q1251Q|NCOA3_ENST00000341724.6_Silent_p.Q1181Q|NCOA3_ENST00000371997.3_Silent_p.Q1246Q			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1255	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)	p.Q1255delQ(1)		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						agcagcaacagcagcagcagc	0.557																																																1	Deletion - In frame(1)	upper_aerodigestive_tract(1)											41	44	43					20																	46279839		2202	4300	6502	SO:0001819	synonymous_variant	8202			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.3765G>A	20.37:g.46279839G>A			A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	ENST00000371998.3	37	CCDS13407.1																																																																																				0.557	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		A	46279839	G	A	46279839	2	1	724	1	0	0	0	0	0	0	0	1	10232	962	34	2		2	NCOA3	20	46279839	Silent	SNP	G	TCGA-KM-8639-01A-11D-2397-10	3454096	46279839	16745681	58	40715											
MYO18B	84700	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	22	26351240	26351240	+	Missense_Mutation	SNP	G	G	C			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr22:26351240G>C	ENST00000407587.2	+	39	6238	c.6069G>C	c.(6067-6069)caG>caC	p.Q2023H	MYO18B_ENST00000335473.7_Missense_Mutation_p.Q2022H|MYO18B_ENST00000536101.1_Missense_Mutation_p.Q2022H			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2022	Tail.					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						AGAGCAGCCAGTACTACCAGC	0.662																																																0													22	29	26					22																	26351240		1967	4148	6115	SO:0001583	missense	84700			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.6069G>C	22.37:g.26351240G>C	ENSP00000386096:p.Gln2023His		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37		.	.	.	.	.	.	.	.	.	.	G	13.81	2.347182	0.41599	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.87412	-2.22;-2.22;-2.25	4.86	-3.03	0.05429	.	0.165305	0.42172	D	0.000742	T	0.80834	0.4699	L	0.36672	1.1	0.32480	N	0.541574	P;P;P;P;P	0.47604	0.898;0.836;0.836;0.874;0.898	P;B;B;P;P	0.49752	0.526;0.326;0.326;0.621;0.526	T	0.78617	-0.2134	10	0.72032	D	0.01	.	5.1107	0.14808	0.3885:0.2584:0.3531:0.0	.	1535;2024;2022;2023;2022	Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7	.;.;MY18B_HUMAN;.;.	H	2022;2022;2023	ENSP00000441229:Q2022H;ENSP00000334563:Q2022H;ENSP00000386096:Q2023H	ENSP00000334563:Q2022H	Q	+	3	2	MYO18B	24681240	0.005000	0.15991	0.939000	0.37840	0.335000	0.28730	-0.611000	0.05622	-0.278000	0.09180	-0.226000	0.12346	CAG		0.662	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		C	26351240	G	C	26351240	3	2	724	1	0	0	0	0	1	0	0	0	10068	1020	36	4	6216	4	MYO18B	22	26351240	Missense_Mutation	SNP	G	TCGA-KM-8639-01A-11D-2397-10		26351240	24953326	59	40716											
APOL5	80831	mdanderson.org	37	22	36122931	36122931	+	Silent	SNP	G	G	A	rs370593513		TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr22:36122931G>A	ENST00000249044.2	+	3	816	c.816G>A	c.(814-816)acG>acA	p.T272T		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	272			T -> M (in dbSNP:rs2076671).		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						CTTTCTGGACGGCTAGAGGGG	0.527													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18487	0.0		0.0	False		,,,				2504	0.0															0								G		3,4403	4.2+/-10.8	0,3,2200	138	145	143		816	-4.8	0	22		143	0,8600		0,0,4300	no	coding-synonymous	APOL5	NM_030642.1		0,3,6500	AA,AG,GG		0.0,0.0681,0.0231		272/434	36122931	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	80831			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.816G>A	22.37:g.36122931G>A			Q5TFL9|Q9UGW5	Silent	SNP	ENST00000249044.2	37	CCDS13920.1																																																																																				0.527	APOL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318979.1	NM_030642		A	36122931	G	A	36122931	2	1	724	1	0	0	0	0	0	0	0	1	809	1103	39	1		1	APOL5	22	36122931	Silent	SNP	G	TCGA-KM-8639-01A-11D-2397-10	9771691	36122931	15181635	60	40717											
NLGN4X	57502	mdanderson.org;bcgsc.ca	37	X	6069116	6069116	+	Missense_Mutation	SNP	T	T	C	rs145307351		TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chrX:6069116T>C	ENST00000381095.3	-	2	1019	c.392A>G	c.(391-393)aAt>aGt	p.N131S	NLGN4X_ENST00000381093.2_Missense_Mutation_p.N131S|NLGN4X_ENST00000381092.1_Missense_Mutation_p.N131S|NLGN4X_ENST00000275857.6_Missense_Mutation_p.N131S|NLGN4X_ENST00000469740.1_5'UTR|NLGN4X_ENST00000538097.1_Missense_Mutation_p.N131S	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	131					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						AGTATCCAAATTGGCGGTAAA	0.468																																																0								T	SER/ASN,SER/ASN	0,3835		0,0,0,1632,571	157	133	141		392,392	4.1	0.2	X	dbSNP_134	141	5,6723		0,4,1,2424,1871	yes	missense,missense	NLGN4X	NM_020742.2,NM_181332.1	46,46	0,4,1,4056,2442	CC,CT,C,TT,T		0.0743,0.0,0.0473	benign,benign	131/817,131/817	6069116	5,10558	2203	4300	6503	SO:0001583	missense	57502			AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"neuroligin 4"	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.392A>G	X.37:g.6069116T>C	ENSP00000370485:p.Asn131Ser		Q6UX10|Q9ULG0	Missense_Mutation	SNP	ENST00000381095.3	37	CCDS14126.1	.	.	.	.	.	.	.	.	.	.	T	10.35	1.326202	0.24080	0.0	7.43E-4	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31;-0.31	4.08	4.08	0.47627	Carboxylesterase, type B (1);	.	.	.	.	T	0.58680	0.2139	L	0.48935	1.535	0.58432	D	0.999998	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.002	T	0.56920	-0.7899	9	0.46703	T	0.11	.	11.7027	0.51579	0.0:0.0:0.0:1.0	.	131;131	Q8N0W4;Q8N0W4-2	NLGNX_HUMAN;.	S	131	ENSP00000370485:N131S;ENSP00000370483:N131S;ENSP00000275857:N131S;ENSP00000370482:N131S;ENSP00000439203:N131S	ENSP00000275857:N131S	N	-	2	0	NLGN4X	6079116	1.000000	0.71417	0.208000	0.23602	0.214000	0.24535	6.568000	0.73987	1.338000	0.45544	0.481000	0.45027	AAT		0.468	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742		C	6069116	T	C	6069116	3	2	724	1	0	0	0	0	1	0	0	0	10466	1493	52	3	2078	3	NLGN4X	23	6069116	Missense_Mutation	SNP	T	TCGA-KM-8639-01A-11D-2397-10		6069116	149201444	61	40718											
WWC3	55841	broad.mit.edu	37	X	10085451	10085452	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chrX:10085451_10085452insA	ENST00000380861.4	+	11	1743_1744	c.1352_1353insA	c.(1351-1356)tcgctgfs	p.L452fs	WWC3_ENST00000454666.1_Frame_Shift_Ins_p.L452fs	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	452	Ser-rich.				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						TCCCTGGCATCGCTGTCCTCCC	0.698																																																0																																										SO:0001589	frameshift_variant	55841			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	Exception_encountered	X.37:g.10085451_10085452insA	ENSP00000370242:p.Leu452fs		A8KA96|Q659C1|Q9BTQ1	Frame_Shift_Ins	INS	ENST00000380861.4	37	CCDS14136.1																																																																																				0.698	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	NM_015691		A	10085452	-	A	10085451	7	5	724	1	0	1	1	0	0	0	0	0	17418	893	31	0	1390	0	WWC3	23	10085451	Frame_Shift_Ins	INS	-	TCGA-KM-8639-01A-11D-2397-10	4016335	10085451	145185109	62	40719											
TBC1D25	4943	bcgsc.ca	37	X	48418659	48418659	+	Missense_Mutation	SNP	G	G	A	rs235836	byFrequency	TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chrX:48418659G>A	ENST00000376771.4	+	6	1704	c.1363G>A	c.(1363-1365)Gct>Act	p.A455T	TBC1D25_ENST00000537536.1_Missense_Mutation_p.A201T|snoU13_ENST00000459609.1_RNA	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	455				A -> T (in Ref. 2; AAI01818/AAI01820/ AAI25089). {ECO:0000305}.	autophagy (GO:0006914)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of autophagic vacuole maturation (GO:1901096)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						AGTGGCAGACGCTGGTTTTGG	0.607													A|||	2101	0.556556	0.6089	0.3285	3775	,	,		14249	0.4127		0.3082	False		,,,				2504	0.3497															0								A	THR/ALA	2926,909		957,587,425,88,146	28	23	25		1363	-7.3	0	X	dbSNP_79	25	2876,3852		481,1133,781,814,1091	yes	missense	TBC1D25	NM_002536.2	58	1438,1720,1206,902,1237	AA,AG,A,GG,G		42.7467,23.7027,45.0724	benign	455/689	48418659	5802,4761	2203	4300	6503	SO:0001583	missense	4943			L08240	CCDS35242.1	Xp11.23	2014-01-28	2007-01-12	2007-01-12	ENSG00000068354	ENSG00000068354			8092	protein-coding gene	gene with protein product		311240	"ornithine aminotransferase-like 1"	OATL1		21383079	Standard	NM_002536		Approved		uc004dka.1	Q3MII6	OTTHUMG00000024123	ENST00000376771.4:c.1363G>A	X.37:g.48418659G>A	ENSP00000365962:p.Ala455Thr		Q08AN9|Q3MII4|Q8TAR9	Missense_Mutation	SNP	ENST00000376771.4	37	CCDS35242.1	892	0.5376732971669681	208	0.6459627329192547	80	0.28169014084507044	157	0.3866995073891626	162	0.2691029900332226	A	0.018	-1.479371	0.01035	0.762973	0.427467	ENSG00000068354	ENST00000376771;ENST00000537536	T;T	0.21543	2.0;2.0	4.05	-7.34	0.01427	Rab-GAP/TBC domain (2);	2.072600	0.01690	N	0.026624	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.34825	-0.9813	9	0.02654	T	1	2.5694	3.1069	0.06345	0.2791:0.2206:0.3908:0.1095	rs235836	459;397;455	B4DF03;B4DGU3;Q3MII6	.;.;TBC25_HUMAN	T	455;201	ENSP00000365962:A455T;ENSP00000444091:A201T	ENSP00000365962:A455T	A	+	1	0	TBC1D25	48303603	0.000000	0.05858	0.015000	0.15790	0.736000	0.42039	-1.130000	0.03241	-2.436000	0.00553	-0.573000	0.04149	GCT		0.607	TBC1D25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060764.2	NM_002536		A	48418659	G	A	48418659	3	1	724	1	0	0	0	0	1	0	0	0	15620	1087	38	1	1385	1	TBC1D25	23	48418659	Missense_Mutation	SNP	G	TCGA-KM-8639-01A-11D-2397-10	38333208	48418659	106851901	63	40720											
SATL1	340562	mdanderson.org	37	X	84363716	84363716	+	5'UTR	SNP	G	G	C	rs141330942		TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chrX:84363716G>C	ENST00000395409.3	-	0	258				SATL1_ENST00000332921.5_5'UTR|SATL1_ENST00000509231.1_Missense_Mutation_p.P87A			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1								N-acetyltransferase activity (GO:0008080)			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						AGCATGCCTGGTTGGCTCCTA	0.527											OREG0019887	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-|||	6	0.0015894	0.0	0.0029	3775	,	,		17578	0.0		0.002	False		,,,				2504	0.002															0									ALA/PRO	0,1209		0,0,0,517,175	415	264	310		259	-5	0	X	dbSNP_134	310	17,2374		0,12,5,788,786	yes	missense	SATL1	NM_001012980.2	27	0,12,5,1305,961	CC,CG,C,GG,G		0.711,0.0,0.4722	possibly-damaging	87/633	84363716	17,3583	692	1591	2283	SO:0001623	5_prime_UTR_variant	340562			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.-303C>G	X.37:g.84363716G>C		1228	A0AVK7|E9PB72|Q5H8V9	Missense_Mutation	SNP	ENST00000395409.3	37		1	6.027727546714888E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	-	3.720	-0.057793	0.07317	0.0	0.00711	ENSG00000184788	ENST00000509231	T	0.39592	1.07	2.81	-5.03	0.02973	.	.	.	.	.	T	0.16128	0.0388	L	0.43152	1.355	0.20403	N	0.999904	P	0.40332	0.713	B	0.33339	0.162	T	0.11717	-1.0576	8	.	.	.	.	1.0108	0.01497	0.3:0.1614:0.3765:0.1621	.	87	E9PB72	.	A	87	ENSP00000425421:P87A	.	P	-	1	0	SATL1	84250372	0.001000	0.12720	0.000000	0.03702	0.005000	0.04900	0.952000	0.29149	-0.781000	0.04548	0.431000	0.28591	CCA		0.527	SATL1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_291339		C	84363716	G	C	84363716	1	2	724	0	1	0	0	0	0	0	0	0	13861	1261	44	4		4	SATL1	23	84363716	5'UTR	SNP	G	TCGA-KM-8639-01A-11D-2397-10	35945057	84363716	70906844	64	40721											
HCFC1	3054	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	X	153220585	153220585	+	Missense_Mutation	SNP	T	T	C			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chrX:153220585T>C	ENST00000310441.7	-	17	4231	c.3265A>G	c.(3265-3267)Aac>Gac	p.N1089D	HCFC1_ENST00000354233.3_Missense_Mutation_p.N1020D|HCFC1_ENST00000369984.4_Missense_Mutation_p.N1089D	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	1089					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)					gtggcggtgttggtggtgCCC	0.642																																																0													35	43	41					X																	153220585		2173	4254	6427	SO:0001583	missense	3054				CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"VP16-accessory protein", "protein phosphatase 1, regulatory subunit 89"	300019	"mental retardation, X-linked 3", "host cell factor C1 (VP16-accessory protein)"	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.3265A>G	X.37:g.153220585T>C	ENSP00000309555:p.Asn1089Asp		Q6P4G5	Missense_Mutation	SNP	ENST00000310441.7	37	CCDS44020.1	.	.	.	.	.	.	.	.	.	.	t	13.39	2.221672	0.39300	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.04551	3.65;3.64;3.6	4.9	0.883	0.19177	.	0.576812	0.19428	N	0.114508	T	0.06096	0.0158	L	0.49126	1.545	0.42729	D	0.993701	B	0.15141	0.012	B	0.16289	0.015	T	0.26430	-1.0103	10	0.39692	T	0.17	.	12.6669	0.56848	0.0:0.0:0.6157:0.3843	.	1089	P51610	HCFC1_HUMAN	D	1089;1089;1020	ENSP00000309555:N1089D;ENSP00000359001:N1089D;ENSP00000346174:N1020D	ENSP00000309555:N1089D	N	-	1	0	HCFC1	152873779	1.000000	0.71417	0.632000	0.29296	0.666000	0.39218	1.816000	0.38992	-0.194000	0.10399	0.427000	0.28365	AAC		0.642	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		C	153220585	T	C	153220585	3	2	724	1	0	0	0	0	1	0	0	0	6993	1812	63	3	2882	3	HCFC1	23	153220585	Missense_Mutation	SNP	T	TCGA-KM-8639-01A-11D-2397-10	68856869	153220585	2049975	65	40722											
ESPN	83715	ucsc.edu;bcgsc.ca	37	1	6512010	6512010	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr1:6512010A>G	ENST00000377828.1	+	10	2347	c.2179A>G	c.(2179-2181)Act>Gct	p.T727A	ESPN_ENST00000461727.1_Missense_Mutation_p.T161A|ESPN_ENST00000416731.1_Missense_Mutation_p.T161A|ESPN_ENST00000475228.1_3'UTR	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	727	Pro-rich.				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)		GCCGCCCACTACTCCTGCGCC	0.667																																																0													22	24	23					1																	6512010		2200	4298	6498	SO:0001583	missense	83715			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.2179A>G	1.37:g.6512010A>G	ENSP00000367059:p.Thr727Ala		Q6XYB2|Q9H0A2|Q9Y329	Missense_Mutation	SNP	ENST00000377828.1	37	CCDS70.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	4.577|4.577	0.107208|0.107208	0.08780|0.08780	.|.	.|.	ENSG00000187017|ENSG00000187017	ENST00000377828;ENST00000416731|ENST00000434576	T;D|.	0.82803|.	-0.1;-1.65|.	4.61|4.61	4.61|4.61	0.57282|0.57282	.|.	0.745694|.	0.13365|.	N|.	0.393397|.	T|T	0.38746|0.38746	0.1052|0.1052	L|L	0.31294|0.31294	0.92|0.92	0.31964|0.31964	N|N	0.608001|0.608001	P;B|.	0.44241|.	0.829;0.004|.	B;B|.	0.40864|.	0.342;0.006|.	T|T	0.45891|0.45891	-0.9230|-0.9230	10|5	0.13108|.	T|.	0.6|.	-25.3007|-25.3007	7.7898|7.7898	0.29114|0.29114	0.9056:0.0:0.0944:0.0|0.9056:0.0:0.0944:0.0	.|.	161;727|.	B1AK53-2;B1AK53|.	.;ESPN_HUMAN|.	A|C	727;161|70	ENSP00000367059:T727A;ENSP00000399239:T161A|.	ENSP00000367059:T727A|.	T|Y	+|+	1|2	0|0	ESPN|ESPN	6434597|6434597	0.938000|0.938000	0.31826|0.31826	1.000000|1.000000	0.80357|0.80357	0.183000|0.183000	0.23260|0.23260	3.684000|3.684000	0.54671|0.54671	1.943000|1.943000	0.56356|0.56356	0.402000|0.402000	0.26972|0.26972	ACT|TAC		0.667	ESPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001887.3	NM_031475		G	6512010	A	G	6512010	3	3	725	1	0	0	0	0	1	0	0	0	5256	391	14	3	2217	3	ESPN	1	6512010	Missense_Mutation	SNP	A	TCGA-KN-8418-01A-11D-2310-10		6512010	242738611	1	40723											
PARS2	25973	ucsc.edu	37	1	55224826	55224826	+	Silent	SNP	C	C	T			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr1:55224826C>T	ENST00000371279.3	-	2	91	c.9G>A	c.(7-9)ggG>ggA	p.G3G		NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN	prolyl-tRNA synthetase 2, mitochondrial (putative)	3					gene expression (GO:0010467)|prolyl-tRNA aminoacylation (GO:0006433)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|proline-tRNA ligase activity (GO:0004827)			breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	TTGTCAGCAGCCCTTCCATGA	0.572																																																0													18	17	17					1																	55224826		2201	4299	6500	SO:0001819	synonymous_variant	25973			AK025585	CCDS597.1	1p32.2	2011-07-01	2007-02-23		ENSG00000162396	ENSG00000162396	6.1.1.15	"Aminoacyl tRNA synthetases / Class II"	30563	protein-coding gene	gene with protein product	"proline tRNA ligase 2, mitochondrial (putative)"	612036				15779907	Standard	NM_152268		Approved	DKFZp727A071	uc001cxy.3	Q7L3T8	OTTHUMG00000009915	ENST00000371279.3:c.9G>A	1.37:g.55224826C>T			A8K0W4|Q9H6S5|Q9UFT1	Silent	SNP	ENST00000371279.3	37	CCDS597.1																																																																																				0.572	PARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027436.1	NM_152268		T	55224826	C	T	55224826	2	4	725	1	0	0	0	0	0	0	0	1	11469	726	26	2		2	PARS2	1	55224826	Silent	SNP	C	TCGA-KN-8418-01A-11D-2310-10	48712816	55224826	194025795	2	40724											
AMPD2	271	broad.mit.edu	37	1	110169839	110169839	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr1:110169839A>G	ENST00000256578.3	+	7	1283	c.923A>G	c.(922-924)gAg>gGg	p.E308G	AMPD2_ENST00000528454.1_Missense_Mutation_p.E190G|AMPD2_ENST00000393688.3_Missense_Mutation_p.E189G|AMPD2_ENST00000342115.4_Missense_Mutation_p.E227G|AMPD2_ENST00000358729.4_Missense_Mutation_p.E233G|AMPD2_ENST00000528667.1_Missense_Mutation_p.E308G|AMPD2_ENST00000526301.1_3'UTR|RP5-1160K1.6_ENST00000369843.3_RNA	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	308					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)		CACCCGTATGAGCACTGTGAG	0.662																																																0													81	88	86					1																	110169839		2203	4300	6503	SO:0001583	missense	271			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.923A>G	1.37:g.110169839A>G	ENSP00000256578:p.Glu308Gly		B4DK50|B4DZI5|E9PNG0|Q14856|Q14857|Q16686|Q16687|Q16688|Q16729|Q5T693|Q5T695|Q96IA1|Q9UDX8|Q9UDX9|Q9UMU4	Missense_Mutation	SNP	ENST00000256578.3	37	CCDS805.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.18|16.18	3.048861|3.048861	0.55110|0.55110	.|.	.|.	ENSG00000116337|ENSG00000116337	ENST00000342115;ENST00000528667;ENST00000256578;ENST00000358729;ENST00000528454;ENST00000393688|ENST00000369840	D;D;D;D;D;D|.	0.83419|.	-1.72;-1.72;-1.72;-1.72;-1.72;-1.72|.	4.71|4.71	4.71|4.71	0.59529|0.59529	.|.	0.129125|.	0.51477|.	D|.	0.000096|.	T|.	0.45677|.	0.1354|.	L|L	0.40543|0.40543	1.245|1.245	0.49915|0.49915	D|D	0.999834|0.999834	P;B;B;B|.	0.35908|.	0.527;0.001;0.001;0.31|.	B;B;B;B|.	0.32624|.	0.149;0.003;0.002;0.084|.	T|.	0.43180|.	-0.9407|.	10|.	0.36615|.	T|.	0.2|.	-32.0982|-32.0982	13.3042|13.3042	0.60342|0.60342	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	233;189;308;227|.	Q01433-4;Q01433-3;Q01433;Q01433-2|.	.;.;AMPD2_HUMAN;.|.	G|W	227;308;308;233;190;189|278	ENSP00000345498:E227G;ENSP00000436541:E308G;ENSP00000256578:E308G;ENSP00000351573:E233G;ENSP00000437164:E190G;ENSP00000377292:E189G|.	ENSP00000256578:E308G|.	E|X	+|+	2|3	0|0	AMPD2|AMPD2	109971362|109971362	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.910000|0.910000	0.53928|0.53928	5.672000|5.672000	0.68102|0.68102	1.974000|1.974000	0.57490|0.57490	0.379000|0.379000	0.24179|0.24179	GAG|TGA		0.662	AMPD2-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390615.1			G	110169839	A	G	110169839	3	3	725	1	0	0	0	0	1	0	0	0	586	304	11	3	990	3	AMPD2	1	110169839	Missense_Mutation	SNP	A	TCGA-KN-8418-01A-11D-2310-10	54945013	110169839	139080782	3	40725											
PRG4	10216	bcgsc.ca	37	1	186276175	186276175	+	Missense_Mutation	SNP	A	A	G	rs140988757	byFrequency	TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr1:186276175A>G	ENST00000445192.2	+	7	1369	c.1324A>G	c.(1324-1326)Aag>Gag	p.K442E	PRG4_ENST00000367486.3_Missense_Mutation_p.K399E|PRG4_ENST00000367485.4_Missense_Mutation_p.K349E|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.K401E	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	442	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						CACCCCCAAGAAGCCTGCCCC	0.657													-|||	20	0.00399361	0.0144	0.0014	5008	,	,		8466	0.0		0.0	False		,,,				2504	0.0															0													75	83	80					1																	186276175		2203	4296	6499	SO:0001583	missense	10216			U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"lubricin", "megakaryocyte stimulating factor", "articular superficial zone protein", "Jacobs camptodactyly-arthropathy-pericarditis syndrome", "camptodactyly, arthropathy, coxa vara, pericarditis syndrome", "bG174L6.2 (MSF: megakaryocyte stimulating factor )"	604283	"proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1324A>G	1.37:g.186276175A>G	ENSP00000399679:p.Lys442Glu		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	-	6.561	0.471796	0.12461	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.04809	3.55;3.66;3.57;3.67	3.62	-0.972	0.10300	.	428.404000	0.00941	N	0.002827	T	0.01421	0.0046	N	0.00332	-1.63	0.09310	N	0.999999	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.0;0.001	T	0.42548	-0.9445	9	.	.	.	.	5.2924	0.15735	0.3354:0.2617:0.403:0.0	.	308;349;442;401	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	E	399;308;401;349;442	ENSP00000356456:K399E;ENSP00000356453:K401E;ENSP00000356455:K349E;ENSP00000399679:K442E	.	K	+	1	0	PRG4	184542798	.	.	0.001000	0.08648	0.010000	0.07245	.	.	-0.119000	0.11830	-0.386000	0.06593	AAG		0.657	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		G	186276175	A	G	186276175	3	3	725	1	0	0	0	0	1	0	0	0	12486	247	9	3	1346	3	PRG4	1	186276175	Missense_Mutation	SNP	A	TCGA-KN-8418-01A-11D-2310-10	76106336	186276175	62974446	4	40726											
FBXO41	150726	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	73493739	73493739	+	Missense_Mutation	SNP	T	T	G			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr2:73493739T>G	ENST00000521871.1	-	3	1392	c.977A>C	c.(976-978)cAg>cCg	p.Q326P	FBXO41_ENST00000295133.5_Missense_Mutation_p.Q387P|FBXO41_ENST00000520530.2_Missense_Mutation_p.Q326P			Q8TF61	FBX41_HUMAN	F-box protein 41	326										breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						AATGAACTGCTGCAGCCGCAG	0.677																																																0													26	30	29					2																	73493739		2012	4173	6185	SO:0001583	missense	150726			AB075820	CCDS46337.1, CCDS46337.2	2p13.2	2004-08-24				ENSG00000163013		"F-boxes /  "other""	29409	protein-coding gene	gene with protein product		609108				11853319	Standard	NM_001080410		Approved	KIAA1940, Fbx41	uc021vjh.1	Q8TF61		ENST00000521871.1:c.977A>C	2.37:g.73493739T>G	ENSP00000428646:p.Gln326Pro		G3V0Z7|Q2M1V8	Missense_Mutation	SNP	ENST00000521871.1	37	CCDS46337.2	.	.	.	.	.	.	.	.	.	.	T	18.00	3.525616	0.64860	.	.	ENSG00000163013	ENST00000295133;ENST00000521871;ENST00000520530	T;T	0.39997	1.05;1.05	5.17	5.17	0.71159	.	0.198803	0.44902	D	0.000409	T	0.60676	0.2287	L	0.61218	1.895	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	T	0.63024	-0.6729	10	0.56958	D	0.05	.	13.8113	0.63266	0.0:0.0:0.0:1.0	.	326	Q8TF61	FBX41_HUMAN	P	387;326;387	ENSP00000295133:Q387P;ENSP00000428646:Q326P	ENSP00000295133:Q387P	Q	-	2	0	FBXO41	73347247	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	6.001000	0.70685	1.948000	0.56530	0.372000	0.22366	CAG		0.677	FBXO41-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377381.1			G	73493739	T	G	73493739	3	3	725	1	0	0	0	0	1	0	0	0	5752	1580	55	5	1694	5	FBXO41	2	73493739	Missense_Mutation	SNP	T	TCGA-KN-8418-01A-11D-2310-10		73493739	169705634	5	40727											
TMEM127	55654	broad.mit.edu	37	2	96920609	96920609	+	Missense_Mutation	SNP	T	T	C	rs377430566		TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr2:96920609T>C	ENST00000258439.3	-	3	627	c.371A>G	c.(370-372)aAg>aGg	p.K124R	TMEM127_ENST00000435268.1_Missense_Mutation_p.K40R|TMEM127_ENST00000432959.1_Missense_Mutation_p.K124R	NM_001193304.2|NM_017849.3	NP_001180233.1|NP_060319.1	O75204	TM127_HUMAN	transmembrane protein 127	124					negative regulation of cell proliferation (GO:0008285)|negative regulation of TOR signaling (GO:0032007)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						ACGAGTGATCTTCAGAGCAGG	0.582																																																0								T	ARG/LYS,ARG/LYS	1,4405	2.1+/-5.4	0,1,2202	158	152	154		371,371	5.9	1	2		154	0,8600		0,0,4300	no	missense,missense	TMEM127	NM_001193304.2,NM_017849.3	26,26	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	probably-damaging,probably-damaging	124/239,124/239	96920609	1,13005	2203	4300	6503	SO:0001583	missense	55654			AK000514	CCDS2018.1	2q11.2	2014-09-17			ENSG00000135956	ENSG00000135956			26038	protein-coding gene	gene with protein product		613403				10493829	Standard	NM_017849		Approved	FLJ20507, FLJ22257	uc002svr.3	O75204	OTTHUMG00000130454	ENST00000258439.3:c.371A>G	2.37:g.96920609T>C	ENSP00000258439:p.Lys124Arg		D3DXH0	Missense_Mutation	SNP	ENST00000258439.3	37	CCDS2018.1	.	.	.	.	.	.	.	.	.	.	T	18.42	3.619625	0.66787	2.27E-4	0.0	ENSG00000135956	ENST00000258439;ENST00000432959;ENST00000435268	D;D;D	0.83506	-1.73;-1.73;-1.73	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.78792	0.4339	N	0.03608	-0.345	0.80722	D	1	D	0.56035	0.974	D	0.67725	0.953	T	0.78028	-0.2364	10	0.16420	T	0.52	-27.9347	15.3262	0.74164	0.0:0.0:0.0:1.0	.	124	O75204	TM127_HUMAN	R	124;124;40	ENSP00000258439:K124R;ENSP00000416660:K124R;ENSP00000411810:K40R	ENSP00000258439:K124R	K	-	2	0	TMEM127	96284336	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.589000	0.82641	2.269000	0.75478	0.533000	0.62120	AAG		0.582	TMEM127-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252845.3	NM_017849		C	96920609	T	C	96920609	3	2	725	1	0	0	0	0	1	0	0	0	16045	1609	56	3	353	3	TMEM127	2	96920609	Missense_Mutation	SNP	T	TCGA-KN-8418-01A-11D-2310-10	23426870	96920609	146278764	6	40728											
INPP4A	3631	broad.mit.edu;mdanderson.org	37	2	99163146	99163146	+	Silent	SNP	G	G	A			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr2:99163146G>A	ENST00000523221.1	+	11	1152	c.1152G>A	c.(1150-1152)gaG>gaA	p.E384E	INPP4A_ENST00000074304.5_Silent_p.E384E|INPP4A_ENST00000545415.1_Silent_p.E384E|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000409851.3_Silent_p.E384E|INPP4A_ENST00000409540.3_Silent_p.E384E|INPP4A_ENST00000409016.4_Silent_p.E384E			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	384					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						AATTTGAAGAGACCAAGAAAC	0.438																																																0													55	56	56					2																	99163146		1874	4115	5989	SO:0001819	synonymous_variant	3631			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.1152G>A	2.37:g.99163146G>A			O15326|Q13187|Q53TD8|Q8TC02	Silent	SNP	ENST00000523221.1	37	CCDS46369.1																																																																																				0.438	INPP4A-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376095.1	NM_001566		A	99163146	G	A	99163146	2	1	725	1	0	0	0	0	0	0	0	1	7754	933	33	2		2	INPP4A	2	99163146	Silent	SNP	G	TCGA-KN-8418-01A-11D-2310-10	2242537	99163146	144036227	7	40729											
FOXD4L1	200350	mdanderson.org	37	2	114257162	114257162	+	Missense_Mutation	SNP	A	A	C	rs201655302		TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr2:114257162A>C	ENST00000306507.5	+	1	502	c.329A>C	c.(328-330)tAc>tCc	p.Y110S		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	110					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						AAGCCCCCCTACTCGTACATC	0.662																																																0													33	45	41					2																	114257162		2197	4271	6468	SO:0001583	missense	200350			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.329A>C	2.37:g.114257162A>C	ENSP00000302756:p.Tyr110Ser		B3KWN1|B9EGF3	Missense_Mutation	SNP	ENST00000306507.5	37	CCDS2117.1	.	.	.	.	.	.	.	.	.	.	.	16.46	3.128625	0.56721	.	.	ENSG00000184492	ENST00000306507	D	0.95980	-3.87	2.85	2.85	0.33270	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);Transcription factor, fork head, conserved site (1);	0.000000	0.31404	U	0.007714	D	0.96222	0.8768	H	0.96048	3.76	0.58432	D	0.999999	B	0.27068	0.167	B	0.30716	0.119	D	0.95549	0.8619	10	0.62326	D	0.03	.	9.1315	0.36848	1.0:0.0:0.0:0.0	.	110	Q9NU39	FX4L1_HUMAN	S	110	ENSP00000302756:Y110S	ENSP00000302756:Y110S	Y	+	2	0	FOXD4L1	113973632	1.000000	0.71417	1.000000	0.80357	0.689000	0.40095	5.507000	0.66999	1.309000	0.44985	0.155000	0.16302	TAC		0.662	FOXD4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254148.1	NM_012184		C	114257162	A	C	114257162	3	2	725	1	0	0	0	0	1	0	0	0	6002	391	14	5	331	5	FOXD4L1	2	114257162	Missense_Mutation	SNP	A	TCGA-KN-8418-01A-11D-2310-10	15094016	114257162	128942211	8	40730											
SCN3A	6328	ucsc.edu	37	2	166032778	166032778	+	Missense_Mutation	SNP	T	T	C	rs34236036|rs72471101	byFrequency	TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr2:166032778T>C	ENST00000360093.3	-	3	618	c.127A>G	c.(127-129)Aat>Gat	p.N43D	SCN3A_ENST00000409101.3_Missense_Mutation_p.N43D|SCN3A_ENST00000283254.7_Missense_Mutation_p.N43D	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	43			Missing. {ECO:0000269|PubMed:12610651}.		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)	TCATCATCATTATCTTGTTCC	0.428																																																0													217	198	204					2																	166032778		2201	4280	6481	SO:0001583	missense	6328			AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10590	protein-coding gene	gene with protein product		182391	"sodium channel, voltage-gated, type III, alpha polypeptide"			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.127A>G	2.37:g.166032778T>C	ENSP00000353206:p.Asn43Asp		Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37		.	.	.	.	.	.	.	.	.	.	T	2.695	-0.272189	0.05716	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431;ENST00000453007	D;D;D;D;T	0.95656	-3.77;-3.77;-3.72;-3.6;8.06	4.68	3.34	0.38264	.	0.615244	0.15295	N	0.269958	T	0.73345	0.3575	N	0.00122	-2.065	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.0;0.003;0.0	T	0.73770	-0.3878	10	0.06236	T	0.91	.	3.2823	0.06920	0.0:0.3988:0.0:0.6012	.	43;43;43	Q9NY46-2;Q9NY46-4;Q9NY46-3	.;.;.	D	43	ENSP00000353206:N43D;ENSP00000283254:N43D;ENSP00000386726:N43D;ENSP00000403348:N43D;ENSP00000391569:N43D	ENSP00000283254:N43D	N	-	1	0	SCN3A	165741024	0.797000	0.28877	0.992000	0.48379	0.893000	0.52053	1.361000	0.34136	1.873000	0.54277	0.260000	0.18958	AAT		0.428	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		C	166032778	T	C	166032778	3	2	725	1	0	0	0	0	1	0	0	0	13924	1754	61	3	6075	3	SCN3A	2	166032778	Missense_Mutation	SNP	T	TCGA-KN-8418-01A-11D-2310-10	51775616	166032778	77166595	9	40731											
TUBA4A	7277	broad.mit.edu	37	2	220115802	220115802	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr2:220115802C>T	ENST00000248437.4	-	4	792	c.619G>A	c.(619-621)Gaa>Aaa	p.E207K	TUBA4A_ENST00000392088.2_Missense_Mutation_p.E192K|TUBA4A_ENST00000498660.1_5'UTR|TUBA4B_ENST00000490341.1_RNA	NM_006000.2	NP_005991.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	207					'de novo' posttranslational protein folding (GO:0051084)|blood coagulation (GO:0007596)|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)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Cabazitaxel(DB06772)|Podofilox(DB01179)|Vincristine(DB00541)	TAGATTGCTTCGTTGTCCACC	0.562																																																0													117	115	116					2																	220115802		2203	4300	6503	SO:0001583	missense	7277			AK054731	CCDS2438.1, CCDS63131.1	2q36.1	2012-10-02	2007-02-12	2007-02-12	ENSG00000127824	ENSG00000127824		"Tubulins"	12407	protein-coding gene	gene with protein product		191110	"tubulin, alpha 1 (testis specific)", "tubulin, alpha 1"	TUBA1		3785200	Standard	NM_006000		Approved	FLJ30169, H2-ALPHA	uc002vkt.1	P68366	OTTHUMG00000133126	ENST00000248437.4:c.619G>A	2.37:g.220115802C>T	ENSP00000248437:p.Glu207Lys		A8MUB1|B3KNQ6|P05215	Missense_Mutation	SNP	ENST00000248437.4	37	CCDS2438.1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.323188	0.60634	.	.	ENSG00000127824	ENST00000248437;ENST00000392088;ENST00000398989	T;T;T	0.70631	-0.5;-0.5;-0.5	5.44	5.44	0.79542	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.85682	D	0.000000	D	0.83348	0.5235	H	0.94847	3.59	0.80722	D	1	P	0.43477	0.808	P	0.44946	0.465	D	0.87852	0.2658	10	0.87932	D	0	.	19.4628	0.94924	0.0:1.0:0.0:0.0	.	207	P68366	TBA4A_HUMAN	K	207;192;54	ENSP00000248437:E207K;ENSP00000375938:E192K;ENSP00000396212:E54K	ENSP00000248437:E207K	E	-	1	0	TUBA4A	219824046	1.000000	0.71417	0.982000	0.44146	0.712000	0.41017	7.538000	0.82048	2.837000	0.97791	0.655000	0.94253	GAA		0.562	TUBA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256816.3	NM_006000		T	220115802	C	T	220115802	3	4	725	1	0	0	0	0	1	0	0	0	16754	893	31	1	731	1	TUBA4A	2	220115802	Missense_Mutation	SNP	C	TCGA-KN-8418-01A-11D-2310-10	54083024	220115802	23083571	10	40732											
SPEG	10290	hgsc.bcm.edu;ucsc.edu	37	2	220354242	220354242	+	Silent	SNP	G	G	A	rs148685205	byFrequency	TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr2:220354242G>A	ENST00000312358.7	+	36	8634	c.8502G>A	c.(8500-8502)tcG>tcA	p.S2834S	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2834	Pro-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)		CCTTGTCCTCGCTCAAGGCTG	0.682													G|||	11	0.00219649	0.0008	0.0	5008	,	,		9136	0.0079		0.001	False		,,,				2504	0.001															0								G		1,3893		0,1,1946	43	48	46		8502	-10.1	0.8	2	dbSNP_134	46	0,8246		0,0,4123	no	coding-synonymous	SPEG	NM_005876.4		0,1,6069	AA,AG,GG		0.0,0.0257,0.0082		2834/3268	220354242	1,12139	1947	4123	6070	SO:0001819	synonymous_variant	10290			BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"Immunoglobulin superfamily / I-set domain containing"	16901	protein-coding gene	gene with protein product		615950	"aortic preferentially expressed gene 1"	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.8502G>A	2.37:g.220354242G>A			A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	ENST00000312358.7	37	CCDS42824.1																																																																																				0.682	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		A	220354242	G	A	220354242	2	1	725	1	0	0	0	0	0	0	0	1	15041	1074	38	1		1	SPEG	2	220354242	Silent	SNP	G	TCGA-KN-8418-01A-11D-2310-10	238440	220354242	22845131	11	40733											
SEPT2	4735	broad.mit.edu;ucsc.edu;mdanderson.org	37	2	242283310	242283310	+	Silent	SNP	C	C	A			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr2:242283310C>A	ENST00000391973.2	+	9	1368	c.840C>A	c.(838-840)ctC>ctA	p.L280L	SEPT2_ENST00000360051.3_Silent_p.L280L|SEPT2_ENST00000407971.1_Silent_p.L240L|SEPT2_ENST00000391971.2_Silent_p.L280L|SEPT2_ENST00000402092.2_Silent_p.L280L|SEPT2_ENST00000401990.1_Silent_p.L290L	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN	septin 2	280	Septin-type G.				cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|neuron projection development (GO:0031175)|regulation of L-glutamate transport (GO:0002036)|regulation of protein localization (GO:0032880)|smoothened signaling pathway (GO:0007224)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|synapse (GO:0045202)	enzyme regulator activity (GO:0030234)|GTP binding (GO:0005525)			central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|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;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		GAACCATGCTCATGTAAGACA	0.507																																																0													168	160	163					2																	242283310		2203	4300	6503	SO:0001819	synonymous_variant	4735			D28540	CCDS2548.1, CCDS63195.1, CCDS74682.1	2q37.3	2013-01-21	2005-01-11	2005-01-12	ENSG00000168385	ENSG00000168385		"Septins"	7729	protein-coding gene	gene with protein product		601506	"neural precursor cell expressed, developmentally down-regulated 5"	DIFF6, NEDD5		8697812	Standard	XM_005247011		Approved	KIAA0158, hNedd5, Pnutl3	uc002wbd.3	Q15019	OTTHUMG00000133394	ENST00000391973.2:c.840C>A	2.37:g.242283310C>A			B4DGE8|Q14132|Q53QU3|Q8IUK9|Q96CB0	Silent	SNP	ENST00000391973.2	37	CCDS2548.1																																																																																				0.507	SEPT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323177.3	NM_006155		A	242283310	C	A	242283310	2	1	725	1	0	0	0	0	0	0	0	1	14070	813	29	4		4	SEPT2	2	242283310	Silent	SNP	C	TCGA-KN-8418-01A-11D-2310-10	21929068	242283310	916063	12	40734											
RFT1	91869	broad.mit.edu	37	3	53139767	53139767	+	Silent	SNP	G	G	A			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr3:53139767G>A	ENST00000296292.3	-	9	940	c.879C>T	c.(877-879)ttC>ttT	p.F293F	RFT1_ENST00000394738.3_Silent_p.F254F	NM_052859.3	NP_443091.1	Q96AA3	RFT1_HUMAN	RFT1 homolog (S. cerevisiae)	293					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)		CTATTGGCTGGAAAATTAATC	0.358																																																0													54	60	58					3																	53139767		2203	4300	6503	SO:0001819	synonymous_variant	91869			AJ318099	CCDS2869.1	3p21.1	2014-02-06	2005-01-26		ENSG00000163933	ENSG00000163933			30220	protein-coding gene	gene with protein product	"congenital disorder of glycosylation 1N"	611908	"RFT1, requiring fifty three 1 homolog (S. cerevisiae)"			12477932	Standard	NM_052859		Approved	CDG1N	uc003dgj.3	Q96AA3	OTTHUMG00000074035	ENST00000296292.3:c.879C>T	3.37:g.53139767G>A			Q96J03	Silent	SNP	ENST00000296292.3	37	CCDS2869.1																																																																																				0.358	RFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157136.2	NM_052859		A	53139767	G	A	53139767	2	1	725	1	0	0	0	0	0	0	0	1	13263	1165	41	2		2	RFT1	3	53139767	Silent	SNP	G	TCGA-KN-8418-01A-11D-2310-10		53139767	144882663	13	40735											
ALCAM	214	broad.mit.edu	37	3	105269023	105269023	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr3:105269023C>T	ENST00000306107.5	+	12	1927	c.1427C>T	c.(1426-1428)tCc>tTc	p.S476F	ALCAM_ENST00000486979.2_Missense_Mutation_p.S425F|ALCAM_ENST00000472644.2_Missense_Mutation_p.S476F|ALCAM_ENST00000389927.4_Missense_Mutation_p.S198F	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	476	Ig-like C2-type 3.				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						ATTATCATTTCCCCTGAAGAG	0.343																																																0													91	110	104					3																	105269023		2201	4294	6495	SO:0001583	missense	214			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.1427C>T	3.37:g.105269023C>T	ENSP00000305988:p.Ser476Phe		B2RNS3|B4DTU0|O60892|Q1HGM8|Q1HGM9|Q6PEY4|Q6ZS95	Missense_Mutation	SNP	ENST00000306107.5	37	CCDS33810.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.187352	0.78789	.	.	ENSG00000170017	ENST00000306107;ENST00000472644;ENST00000486979;ENST00000389927	T;T;T;T	0.16324	3.78;3.78;3.78;2.35	5.92	5.92	0.95590	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.362066	0.33005	N	0.005388	T	0.31104	0.0786	N	0.24115	0.695	0.48288	D	0.999628	D;D;D	0.71674	0.998;0.995;0.995	D;P;D	0.68483	0.958;0.876;0.913	T	0.02958	-1.1089	10	0.66056	D	0.02	-9.5915	20.3343	0.98733	0.0:1.0:0.0:0.0	.	198;476;476	Q6ZS95;B4DTU0;Q13740	.;.;CD166_HUMAN	F	476;476;425;198	ENSP00000305988:S476F;ENSP00000419236:S476F;ENSP00000418213:S425F;ENSP00000374577:S198F	ENSP00000305988:S476F	S	+	2	0	ALCAM	106751713	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.059000	0.64306	2.822000	0.97130	0.650000	0.86243	TCC		0.343	ALCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353764.1	NM_001627		T	105269023	C	T	105269023	3	4	725	1	0	0	0	0	1	0	0	0	487	855	30	2	1473	2	ALCAM	3	105269023	Missense_Mutation	SNP	C	TCGA-KN-8418-01A-11D-2310-10	52129256	105269023	92753407	14	40736											
PARP14	54625	broad.mit.edu	37	3	122433231	122433231	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr3:122433231delG	ENST00000474629.2	+	12	4221	c.3955delG	c.(3955-3957)gaafs	p.E1319fs		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1319	Macro 3. {ECO:0000255|PROSITE- ProRule:PRU00490}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		GCAGGAGTGTGAAAAAAAAAA	0.423																																																0													58	56	57					3																	122433231		1887	4111	5998	SO:0001589	frameshift_variant	54625			AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"Poly (ADP-ribose) polymerases"	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.3955delG	3.37:g.122433231delG	ENSP00000418194:p.Glu1319fs		B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Frame_Shift_Del	DEL	ENST00000474629.2	37	CCDS46894.1																																																																																				0.423	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554		-	122433231	G	-	122433231	7	5	725	1	0	1	0	1	0	0	0	0	11460	1291	45	0	4001	0	PARP14	3	122433231	Frame_Shift_Del	DEL	G	TCGA-KN-8418-01A-11D-2310-10	17164208	122433231	75589199	15	40737											
C3orf34	84984	broad.mit.edu;mdanderson.org;bcgsc.ca	37	3	196434505	196434505	+	Missense_Mutation	SNP	C	C	A			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr3:196434505C>A	ENST00000399942.4	-	2	598	c.304G>T	c.(304-306)Gtt>Ttt	p.V102F	CEP19_ENST00000409690.3_Missense_Mutation_p.V141F|RNU6-646P_ENST00000364571.1_RNA			Q96LK0	CEP19_HUMAN	centrosomal protein 19kDa	137						centriole (GO:0005814)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)				NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	10						ATGTCATAAACAAAATTTGGA	0.408																																																0													154	143	147					3																	196434505		1913	4132	6045	SO:0001583	missense	84984			BC007827	CCDS43193.2	3q29	2014-02-20	2011-05-06	2011-05-06	ENSG00000174007	ENSG00000174007			28209	protein-coding gene	gene with protein product		615586	"chromosome 3 open reading frame 34"	C3orf34		21399614	Standard	XM_005269370		Approved	MGC14126	uc011btw.2	Q96LK0	OTTHUMG00000153933	ENST00000399942.4:c.304G>T	3.37:g.196434505C>A	ENSP00000382823:p.Val102Phe		B2RA74|Q96I48	Missense_Mutation	SNP	ENST00000399942.4	37		.	.	.	.	.	.	.	.	.	.	C	20.1	3.932672	0.73442	.	.	ENSG00000174007	ENST00000409690;ENST00000399942	.	.	.	5.66	5.66	0.87406	.	0.112186	0.64402	D	0.000011	T	0.69753	0.3146	M	0.73962	2.25	0.48395	D	0.999649	D	0.56746	0.977	P	0.56648	0.803	T	0.70981	-0.4724	9	0.51188	T	0.08	-19.7616	12.9512	0.58401	0.0:0.8851:0.0:0.1149	.	137	Q96LK0	CEP19_HUMAN	F	141;102	.	ENSP00000382823:V102F	V	-	1	0	CEP19	197918902	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.777000	0.47717	2.832000	0.97577	0.655000	0.94253	GTT		0.408	CEP19-002	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000333081.1	NM_032898		A	196434505	C	A	196434505	3	1	725	1	0	0	0	0	1	0	0	0	2226	478	17	4	86	4	C3orf34	3	196434505	Missense_Mutation	SNP	C	TCGA-KN-8418-01A-11D-2310-10	74001274	196434505	1587925	16	40738											
PRKAA1	5562	broad.mit.edu	37	5	40775606	40775606	+	Splice_Site	SNP	C	C	T			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr5:40775606C>T	ENST00000397128.2	-	3	278		c.e3-1		PRKAA1_ENST00000354209.3_Splice_Site|PRKAA1_ENST00000296800.4_Splice_Site	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit						activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|cell cycle arrest (GO:0007050)|cellular response to ethanol (GO:0071361)|cellular response to glucose starvation (GO:0042149)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|cold acclimation (GO:0009631)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|fatty acid oxidation (GO:0019395)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of glucosylceramide biosynthetic process (GO:0046318)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of gene expression (GO:0010628)|positive regulation of glycolytic process (GO:0045821)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of transcription, DNA-templated (GO:0006355)|regulation of vesicle-mediated transport (GO:0060627)|response to activity (GO:0014823)|response to caffeine (GO:0031000)|response to camptothecin (GO:1901563)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	AMP-activated protein kinase complex (GO:0031588)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|tau-protein kinase activity (GO:0050321)			breast(1)	1					Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	GACCTGGTACCTGGTGAGAGA	0.353																																																0													105	92	96					5																	40775606		1836	4079	5915	SO:0001630	splice_region_variant	5562				CCDS3932.2, CCDS3933.2	5p13.1	2012-10-03			ENSG00000132356	ENSG00000132356			9376	protein-coding gene	gene with protein product	"AMPK, alpha, 1"	602739				8557660	Standard	XM_006714481		Approved	AMPKa1	uc003jmb.3	Q13131	OTTHUMG00000162269	ENST00000397128.2:c.270-1G>A	5.37:g.40775606C>T			A8MTQ6|B2R7E1|O00286|Q5D0E1|Q86VS1|Q9UNQ4	Splice_Site	SNP	ENST00000397128.2	37	CCDS3932.2	.	.	.	.	.	.	.	.	.	.	C	24.0	4.477067	0.84640	.	.	ENSG00000132356	ENST00000397128;ENST00000354209;ENST00000296800	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2799	0.90096	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AC008810.1	40811363	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.461000	0.80834	2.391000	0.81399	0.585000	0.79938	.		0.353	PRKAA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253833.2	NM_006251	Intron	T	40775606	C	T	40775606	5	4	725	1	0	0	0	0	0	0	1	0	12498	695	24	2	1487	2	PRKAA1	5	40775606	Splice_Site	SNP	C	TCGA-KN-8418-01A-11D-2310-10		40775606	140139654	17	40739											
HEATR7B2	133558	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	5	41045851	41045851	+	Silent	SNP	C	C	T			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr5:41045851C>T	ENST00000399564.4	-	18	2283	c.1833G>A	c.(1831-1833)gaG>gaA	p.E611E	MROH2B_ENST00000506092.2_Silent_p.E166E	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	611								p.E611E(1)									AACCAACCTTCTCAGTGGAGT	0.443																																																1	Substitution - coding silent(1)	kidney(1)											170	162	164					5																	41045851		1949	4152	6101	SO:0001819	synonymous_variant	133558				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"maestro heat-like repeat containing"	26857	protein-coding gene	gene with protein product			"HEAT repeat family member 7B2"	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.1833G>A	5.37:g.41045851C>T			Q68DM1|Q7Z4U4|Q8N7X3	Silent	SNP	ENST00000399564.4	37	CCDS47202.1																																																																																				0.443	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		T	41045851	C	T	41045851	2	4	725	1	0	0	0	0	0	0	0	1	7037	912	32	2		2	HEATR7B2	5	41045851	Silent	SNP	C	TCGA-KN-8418-01A-11D-2310-10	270245	41045851	139869409	18	40740											
DHFR	1719	broad.mit.edu;mdanderson.org	37	5	79945302	79945302	+	Silent	SNP	G	G	A			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr5:79945302G>A	ENST00000439211.2	-	3	641	c.148C>T	c.(148-150)Ctg>Ttg	p.L50L	DHFR_ENST00000505337.1_Silent_p.L50L|DHFR_ENST00000513048.1_5'UTR|DHFR_ENST00000504396.1_5'UTR|DHFR_ENST00000511032.1_Silent_p.L50L	NM_000791.3	NP_000782.1	P00374	DYR_HUMAN	dihydrofolate reductase	50	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)	ATAATCACCAGATTCTGTTTA	0.323																																																0													74	71	72					5																	79945302		2010	4199	6209	SO:0001819	synonymous_variant	1719				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.148C>T	5.37:g.79945302G>A			B4DDD2|Q14130|Q6IRW8	Silent	SNP	ENST00000439211.2	37	CCDS47240.1																																																																																				0.323	DHFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369450.1	NM_000791		A	79945302	G	A	79945302	2	1	725	1	0	0	0	0	0	0	0	1	4483	933	33	2		2	DHFR	5	79945302	Silent	SNP	G	TCGA-KN-8418-01A-11D-2310-10	38899451	79945302	100969958	19	40741											
ATXN1	6310	broad.mit.edu	37	6	16326646	16326646	+	Silent	SNP	G	G	A			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr6:16326646G>A	ENST00000244769.4	-	8	2832	c.1896C>T	c.(1894-1896)gcC>gcT	p.A632A	ATXN1_ENST00000436367.1_Silent_p.A632A	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	632	AXH. {ECO:0000255|PROSITE- ProRule:PRU00496}.|Interaction with USP7.|RNA-binding.				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)				GCTCCCCGACGGCGAACTGTA	0.577																																																0													64	67	66					6																	16326646		2203	4300	6503	SO:0001819	synonymous_variant	6310			X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"Ataxins"	10548	protein-coding gene	gene with protein product		601556	"spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.1896C>T	6.37:g.16326646G>A			Q17S02|Q9UJG2|Q9Y4J1	Silent	SNP	ENST00000244769.4	37	CCDS34342.1																																																																																				0.577	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		A	16326646	G	A	16326646	2	1	725	1	0	0	0	0	0	0	0	1	1209	1103	39	1		1	ATXN1	6	16326646	Silent	SNP	G	TCGA-KN-8418-01A-11D-2310-10		16326646	154788421	20	40742											
HEATR2	54919	mdanderson.org	37	7	814788	814788	+	Missense_Mutation	SNP	G	G	A	rs3922641	byFrequency	TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr7:814788G>A	ENST00000297440.6	+	11	2248	c.2228G>A	c.(2227-2229)aGg>aAg	p.R743K	HEATR2_ENST00000313147.5_Missense_Mutation_p.R743K|HEATR2_ENST00000403952.3_Missense_Mutation_p.R168K	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	743			R -> K (in dbSNP:rs3922641). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005}.			cytoplasm (GO:0005737)				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		AAACTCATCAGGATTTATCCT	0.498											OREG0026740	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A|||	3349	0.66873	0.7413	0.6744	5008	,	,		19595	0.62		0.6054	False		,,,				2504	0.682															0									LYS/ARG	3053,1353	448.3+/-348.6	1066,921,216	78	78	78		2228	2.8	0.8	7	dbSNP_108	78	5101,3499	509.6+/-377.3	1531,2039,730	yes	missense	HEATR2	NM_017802.3	26	2597,2960,946	AA,AG,GG		40.686,30.7081,37.3059	benign	743/856	814788	8154,4852	2203	4300	6503	SO:0001583	missense	54919			AL832914, AK000404, NM_017802, AK056233	CCDS34580.1	7p22.3	2014-05-06	2006-05-19		ENSG00000164818	ENSG00000164818			26013	protein-coding gene	gene with protein product		614864				23040496	Standard	NM_017802		Approved	FLJ20397, FLJ31671, FLJ39381, FLJ25564, CILD18	uc010krz.1	Q86Y56	OTTHUMG00000151416	ENST00000297440.6:c.2228G>A	7.37:g.814788G>A	ENSP00000297440:p.Arg743Lys	591	Q69YL1|Q96FI9|Q9NX75	Missense_Mutation	SNP	ENST00000297440.6	37	CCDS34580.1	1426	0.6529304029304029	382	0.7764227642276422	238	0.6574585635359116	362	0.6328671328671329	444	0.5857519788918206	A	3.916	-0.019136	0.07634	0.692919	0.59314	ENSG00000164818	ENST00000297440;ENST00000313147;ENST00000537862;ENST00000403952	T;T;T	0.65916	-0.18;-0.18;-0.18	5.15	2.76	0.32466	Armadillo-like helical (1);Armadillo-type fold (1);	0.158601	0.56097	N	0.000039	T	0.00012	0.0000	N	0.00419	-1.52	0.54753	P	1.0999999999983245E-5	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.44997	-0.9291	9	0.02654	T	1	-37.6408	8.382	0.32477	0.7649:0.0:0.2351:0.0	rs3922641;rs4333481;rs17135871;rs17355743;rs35235720;rs3922641	743;168;489	Q86Y56;E9PGY2;F5H8D4	HEAT2_HUMAN;.;.	K	743;743;489;168	ENSP00000297440:R743K;ENSP00000321451:R743K;ENSP00000384884:R168K	ENSP00000297440:R743K	R	+	2	0	HEATR2	781314	1.000000	0.71417	0.786000	0.31890	0.907000	0.53573	0.903000	0.28475	0.009000	0.14813	-0.361000	0.07541	AGG		0.498	HEATR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322542.1	NM_017802		A	814788	G	A	814788	3	1	725	1	0	0	0	0	1	0	0	0	7030	1000	35	2	2270	2	HEATR2	7	814788	Missense_Mutation	SNP	G	TCGA-KN-8418-01A-11D-2310-10		814788	158323875	21	40743											
SRRM3	222183	broad.mit.edu	37	7	75914932	75914933	+	Splice_Site	INS	-	-	C			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr7:75914932_75914933insC	ENST00000326382.8	+	15	1940_1941		c.e15-1		SRRM3_ENST00000388802.4_Splice_Site	NM_001110199.1	NP_001103669.1	A6NNA2	SRRM3_HUMAN	serine/arginine repetitive matrix 3											NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)	8						CTTCCCGGCAGCGCCGCAAGCG	0.658																																																0																																										SO:0001630	splice_region_variant	222183			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.1734-1->C	7.37:g.75914933_75914933dupC			A6ND75	Splice_Site	INS	ENST00000326382.8	37																																																																																					0.658	SRRM3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000252889.2	NM_001110199	Intron	C	75914933	-	C	75914932	8	5	725	1	0	1	1	0	0	0	1	0	15175	985	34	0	1787	0	SRRM3	7	75914932	Splice_Site	INS	-	TCGA-KN-8418-01A-11D-2310-10	75100144	75914932	83223731	22	40744											
MLL3	58508	mdanderson.org	37	7	151932990	151932990	+	Missense_Mutation	SNP	C	C	T	rs76844681		TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr7:151932990C>T	ENST00000262189.6	-	16	2899	c.2681G>A	c.(2680-2682)cGg>cAg	p.R894Q	KMT2C_ENST00000355193.2_Missense_Mutation_p.R894Q	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	894					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)										TCGAGGTCTCCGCTTTCCTGG	0.502																																																0													33	34	33					7																	151932990		2202	4295	6497	SO:0001583	missense	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.2681G>A	7.37:g.151932990C>T	ENSP00000262189:p.Arg894Gln		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.710284	0.89018	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.89485	-2.5;-2.52	5.1	5.1	0.69264	.	0.000000	0.42294	D	0.000721	D	0.93314	0.7869	M	0.63843	1.955	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	D	0.93742	0.7051	10	0.66056	D	0.02	.	17.0444	0.86498	0.0:1.0:0.0:0.0	.	894	Q8NEZ4	MLL3_HUMAN	Q	894	ENSP00000262189:R894Q;ENSP00000347325:R894Q	ENSP00000262189:R894Q	R	-	2	0	MLL3	151563923	1.000000	0.71417	0.996000	0.52242	0.951000	0.60555	7.268000	0.78473	2.530000	0.85305	0.650000	0.86243	CGG		0.502	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			T	151932990	C	T	151932990	3	4	725	1	0	0	0	0	1	0	0	0	9624	652	23	1	12230	1	MLL3	7	151932990	Missense_Mutation	SNP	C	TCGA-KN-8418-01A-11D-2310-10	76018058	151932990	7205673	23	40745											
FAM86B1	85002	mdanderson.org	37	8	12042969	12042969	+	Missense_Mutation	SNP	G	G	A	rs201172089	byFrequency	TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr8:12042969G>A	ENST00000448228.2	-	6	755	c.706C>T	c.(706-708)Cgg>Tgg	p.R236W	FAM86B1_ENST00000321602.8_Missense_Mutation_p.R42W|FAM86B1_ENST00000533852.2_Missense_Mutation_p.R270W|FAM86B1_ENST00000534520.1_Missense_Mutation_p.P147L	NM_001083537.1	NP_001077006.1	Q8N7N1	F86B1_HUMAN	family with sequence similarity 86, member B1	236										kidney(1)|prostate(1)|stomach(1)	3			STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.0965)		TTGTGCTCCCGGCAGGCAGCC	0.612																																																0													7	9	8					8																	12042969		1359	2492	3851	SO:0001583	missense	85002			BC007983	CCDS59512.1	8p23.1	2014-02-12	2005-08-19		ENSG00000186523	ENSG00000186523			28268	protein-coding gene	gene with protein product						12477932	Standard	NM_001083537		Approved	MGC16279	uc010lse.3	Q8N7N1	OTTHUMG00000165298	ENST00000448228.2:c.706C>T	8.37:g.12042969G>A	ENSP00000407067:p.Arg236Trp			Missense_Mutation	SNP	ENST00000448228.2	37	CCDS59512.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	7.982|7.982	0.751471|0.751471	0.15778|0.15778	.|.	.|.	ENSG00000186523|ENSG00000186523	ENST00000340537;ENST00000534520|ENST00000431227;ENST00000448228;ENST00000321602;ENST00000526708	T;T|T;T	0.19806|0.26810	2.12;2.12|3.26;1.71	1.17|1.17	1.17|1.17	0.20885|0.20885	.|.	35.965900|.	0.00520|.	U|.	0.000195|.	T|T	0.20536|0.20536	0.0494|0.0494	M|M	0.66378|0.66378	2.025|2.025	0.09310|0.09310	N|N	1|1	.|B;B;P;B	.|0.35481	.|0.001;0.013;0.504;0.127	.|B;B;B;B	.|0.20955	.|0.01;0.016;0.032;0.009	T|T	0.18903|0.18903	-1.0322|-1.0322	8|9	0.87932|0.56958	D|D	0|0.05	.|.	5.7595|5.7595	0.18192|0.18192	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|236;270;42;79	.|Q8N7N1;E9PN63;F6QN85;Q4KMP3	.|F86B1_HUMAN;.;.;.	L|W	147|270;236;42;270	ENSP00000342610:P147L;ENSP00000431362:P147L|ENSP00000407067:R236W;ENSP00000439686:R42W	ENSP00000342610:P147L|ENSP00000439686:R42W	P|R	-|-	2|1	0|2	FAM86B1|FAM86B1	12080378|12080378	0.886000|0.886000	0.30341|0.30341	0.007000|0.007000	0.13788|0.13788	0.004000|0.004000	0.04260|0.04260	0.669000|0.669000	0.25142|0.25142	0.950000|0.950000	0.37743|0.37743	0.173000|0.173000	0.16961|0.16961	CCG|CGG		0.612	FAM86B1-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000383317.1	NM_032916		A	12042969	G	A	12042969	3	1	725	1	0	0	0	0	1	0	0	0	5646	1115	39	1	192	1	FAM86B1	8	12042969	Missense_Mutation	SNP	G	TCGA-KN-8418-01A-11D-2310-10		12042969	134321053	24	40746											
FAM86B2	653333	broad.mit.edu;mdanderson.org;bcgsc.ca	37	8	12287958	12287958	+	Missense_Mutation	SNP	G	G	T	rs567088130	byFrequency	TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr8:12287958G>T	ENST00000262365.4	-	4	242	c.243C>A	c.(241-243)caC>caA	p.H81Q	FAM86B2_ENST00000393715.3_Intron|FAM86B2_ENST00000309608.5_Intron|FAM86B2_ENST00000351291.4_Intron	NM_001137610.1	NP_001131082.1	P0C5J1	F86B2_HUMAN	family with sequence similarity 86, member B2	81										endometrium(1)|kidney(2)	3						GGACAGCCTCGTGCTGGGGGC	0.537																																																0													8	13	11					8																	12287958		680	1574	2254	SO:0001583	missense	653333				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.243C>A	8.37:g.12287958G>T	ENSP00000262365:p.His81Gln			Missense_Mutation	SNP	ENST00000262365.4	37	CCDS59092.1	.	.	.	.	.	.	.	.	.	.	-	4.395	0.072989	0.08485	.	.	ENSG00000145002	ENST00000262365	T	0.24538	1.85	1.16	0.223	0.15292	.	.	.	.	.	T	0.20495	0.0493	L	0.56769	1.78	0.80722	D	1	B	0.17852	0.024	B	0.14578	0.011	T	0.08166	-1.0735	9	0.51188	T	0.08	.	3.3083	0.07007	0.2978:0.0:0.7022:0.0	.	81	P0C5J1	F86B2_HUMAN	Q	81	ENSP00000262365:H81Q	ENSP00000262365:H81Q	H	-	3	2	FAM86B2	12332329	0.305000	0.24481	0.987000	0.45799	0.116000	0.19942	-0.569000	0.05902	0.061000	0.16311	0.162000	0.16502	CAC		0.537	FAM86B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_928336		T	12287958	G	T	12287958	3	4	725	1	0	0	0	0	1	0	0	0	5647	1136	40	4	769	4	FAM86B2	8	12287958	Missense_Mutation	SNP	G	TCGA-KN-8418-01A-11D-2310-10	244989	12287958	134076064	25	40747											
NOTCH1	4851	broad.mit.edu;mdanderson.org;bcgsc.ca	37	9	139395222	139395222	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr9:139395222C>T	ENST00000277541.6	-	31	5791	c.5716G>A	c.(5716-5718)Gcg>Acg	p.A1906T		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1906					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)		ACGGCCGGCGCGTCCTCCTCT	0.682			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																													Dom	yes		9	9q34.3	4851	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"		L	0													37	46	43					9																	139395222		2113	4229	6342	SO:0001583	missense	4851			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"Ankyrin repeat domain containing"	7881	protein-coding gene	gene with protein product		190198	"Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)"	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.5716G>A	9.37:g.139395222C>T	ENSP00000277541:p.Ala1906Thr		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	16.94	3.261608	0.59431	.	.	ENSG00000148400	ENST00000277541	D	0.82255	-1.59	4.6	3.7	0.42460	Ankyrin repeat-containing domain (3);	0.168956	0.51477	D	0.000085	T	0.78761	0.4334	L	0.27053	0.805	0.58432	D	0.999992	P	0.40332	0.713	P	0.48840	0.592	T	0.74420	-0.3671	10	0.27082	T	0.32	.	11.9893	0.53166	0.0:0.9143:0.0:0.0857	.	1906	P46531	NOTC1_HUMAN	T	1906	ENSP00000277541:A1906T	ENSP00000277541:A1906T	A	-	1	0	NOTCH1	138515043	1.000000	0.71417	0.828000	0.32881	0.220000	0.24768	3.737000	0.55060	1.084000	0.41184	0.536000	0.68110	GCG		0.682	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		T	139395222	C	T	139395222	3	4	725	1	0	0	0	0	1	0	0	0	10549	768	27	1	1967	1	NOTCH1	9	139395222	Missense_Mutation	SNP	C	TCGA-KN-8418-01A-11D-2310-10		139395222	1818209	26	40748											
PITRM1	10531	mdanderson.org	37	10	3208557	3208557	+	Silent	SNP	A	A	G	rs12359035	byFrequency	TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr10:3208557A>G	ENST00000224949.4	-	4	316	c.282T>C	c.(280-282)acT>acC	p.T94T	PITRM1_ENST00000451104.2_Silent_p.T62T|PITRM1_ENST00000380989.2_Silent_p.T94T|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1-AS1_ENST00000598280.1_RNA			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	94					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						CCATGGGAGTAGTACGGAACT	0.493													G|||	3203	0.639577	0.5915	0.5807	5008	,	,		19010	0.6042		0.7018	False		,,,				2504	0.7188															0								G	,,	2671,1411		877,917,247	107	107	107		282,186,282	-5.1	0.2	10	dbSNP_120	107	6043,2313		2165,1713,300	no	coding-synonymous,coding-synonymous,coding-synonymous	PITRM1	NM_001242307.1,NM_001242309.1,NM_014889.3	,,	3042,2630,547	GG,GA,AA		27.6807,34.5664,29.9405	,,	94/1039,62/940,94/1038	3208557	8714,3724	2041	4178	6219	SO:0001819	synonymous_variant	10531			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.282T>C	10.37:g.3208557A>G			B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Silent	SNP	ENST00000224949.4	37	CCDS59208.1																																																																																				0.493	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046469.2			G	3208557	A	G	3208557	2	3	725	1	0	0	0	0	0	0	0	1	11955	407	15	3		3	PITRM1	10	3208557	Silent	SNP	A	TCGA-KN-8418-01A-11D-2310-10		3208557	132326190	27	40749											
MSRB2	22921	broad.mit.edu	37	10	23399207	23399207	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr10:23399207G>A	ENST00000376510.3	+	3	359	c.256G>A	c.(256-258)Gga>Aga	p.G86R		NM_012228.3	NP_036360.3	Q9Y3D2	MSRB2_HUMAN	methionine sulfoxide reductase B2	86					actin filament polymerization (GO:0030041)|protein repair (GO:0030091)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)	actin binding (GO:0003779)|peptide-methionine (R)-S-oxide reductase activity (GO:0033743)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	9					L-Methionine(DB00134)	CAAGGAAGCAGGAATGTATCA	0.433																																					Esophageal Squamous(89;1240 1363 4973 30188 42299)											0													101	97	99					10																	23399207		1932	4138	6070	SO:0001583	missense	22921			AF122004	CCDS41495.1	10p12	2004-12-07	2004-12-06	2004-12-07	ENSG00000148450	ENSG00000148450			17061	protein-coding gene	gene with protein product		613782	"methionine sulfoxide reductase B"	MSRB		8749308, 10375640	Standard	NM_012228		Approved	PILB, CGI-131, CBS1, CBS-1	uc001iro.3	Q9Y3D2	OTTHUMG00000017812	ENST00000376510.3:c.256G>A	10.37:g.23399207G>A	ENSP00000365693:p.Gly86Arg		Q17R44|Q4G1C7|Q9Y5W6	Missense_Mutation	SNP	ENST00000376510.3	37	CCDS41495.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.420404	0.83559	.	.	ENSG00000148450	ENST00000376510	D	0.93247	-3.19	5.83	5.83	0.93111	Mss4-like (1);Methionine sulphoxide reductase B (3);	0.000000	0.85682	D	0.000000	D	0.98220	0.9411	H	0.98199	4.17	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99215	1.0877	10	0.87932	D	0	-21.1633	18.8761	0.92337	0.0:0.0:1.0:0.0	.	86	Q9Y3D2	MSRB2_HUMAN	R	86	ENSP00000365693:G86R	ENSP00000365693:G86R	G	+	1	0	MSRB2	23439213	1.000000	0.71417	0.289000	0.24876	0.741000	0.42261	7.676000	0.84012	2.762000	0.94881	0.655000	0.94253	GGA		0.433	MSRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047205.1	NM_012228		A	23399207	G	A	23399207	3	1	725	1	0	0	0	0	1	0	0	0	9890	1001	35	2	266	2	MSRB2	10	23399207	Missense_Mutation	SNP	G	TCGA-KN-8418-01A-11D-2310-10	20190650	23399207	112135540	28	40750											
EIF5AL1	143244	mdanderson.org	37	10	81272627	81272627	+	Silent	SNP	G	G	A	rs200689309		TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr10:81272627G>A	ENST00000520547.2	+	1	271	c.222G>A	c.(220-222)ccG>ccA	p.P74P	AL133481.1_ENST00000538322.1_5'Flank	NM_001099692.1	NP_001093162.1	Q6IS14	IF5AL_HUMAN	eukaryotic translation initiation factor 5A-like 1	74					mRNA transport (GO:0051028)|peptidyl-lysine modification to peptidyl-hypusine (GO:0008612)|positive regulation of translational elongation (GO:0045901)|positive regulation of translational termination (GO:0045905)|protein transport (GO:0015031)|translational frameshifting (GO:0006452)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)	ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)			endometrium(1)	1	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)			ATATCTGCCCGTCAACTCATA	0.498																																																0													30	32	32					10																	81272627		2202	4289	6491	SO:0001819	synonymous_variant	143244				CCDS53546.1	10q22.3	2012-04-19			ENSG00000253626	ENSG00000253626			17419	protein-coding gene	gene with protein product			"eukaryotic translation initiation factor 5A pseudogene 1"	EIF5AP1			Standard	NM_001099692		Approved	bA342M3.3	uc009xrx.3	Q6IS14	OTTHUMG00000018563	ENST00000520547.2:c.222G>A	10.37:g.81272627G>A				Silent	SNP	ENST00000520547.2	37	CCDS53546.1																																																																																				0.498	EIF5AL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048954.4	NM_001099692		A	81272627	G	A	81272627	2	1	725	1	0	0	0	0	0	0	0	1	5045	1132	40	1		1	EIF5AL1	10	81272627	Silent	SNP	G	TCGA-KN-8418-01A-11D-2310-10	57873420	81272627	54262120	29	40751											
INPP5F	79892	ucsc.edu	37	10	121587065	121587065	+	IGR	SNP	T	T	C	rs201053908|rs148162878	byFrequency	TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr10:121587065T>C	ENST00000360003.3	-	0	4113				INPP5F_ENST00000369080.3_Missense_Mutation_p.S448P|INPP5F_ENST00000361976.2_Missense_Mutation_p.S1058P	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein						DNA-dependent DNA replication (GO:0006261)|mitotic nuclear division (GO:0007067)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						TGTAACTCCTTCTCCTTCAGA	0.493																																																0								T	PRO/SER	1,4405	2.1+/-5.4	0,1,2202	106	104	105		3172	4.5	1	10	dbSNP_134	105	0,8600		0,0,4300	yes	missense	INPP5F	NM_014937.3	74	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	probably-damaging	1058/1133	121587065	1,13005	2203	4300	6503	SO:0001628	intergenic_variant	22876			BC007219	CCDS7617.1, CCDS58099.1	10q26.13	2013-10-11	2011-01-05	2011-01-05	ENSG00000197771	ENSG00000197771			25782	protein-coding gene	gene with protein product		610909	"chromosome 10 open reading frame 119"	C10orf119		17296731	Standard	NM_024834		Approved	FLJ13081, MCM-BP	uc001ler.3	Q9BTE3	OTTHUMG00000019159		10.37:g.121587065T>C			B3KSP7|Q6IA56|Q9BVT9|Q9H916	Missense_Mutation	SNP	ENST00000360003.3	37	CCDS7617.1	.	.	.	.	.	.	.	.	.	.	T	19.08	3.757919	0.69648	2.27E-4	0.0	ENSG00000198825	ENST00000361976;ENST00000369080	T;T	0.59906	0.65;0.23	5.63	4.5	0.54988	.	0.296722	0.37483	N	0.002064	T	0.70718	0.3256	L	0.58101	1.795	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.994	T	0.72337	-0.4324	10	0.87932	D	0	-18.4272	11.441	0.50096	0.0:0.0707:0.0:0.9293	.	448;1058	Q5W135;Q9Y2H2	.;SAC2_HUMAN	P	1058;448	ENSP00000354519:S1058P;ENSP00000358076:S448P	ENSP00000354519:S1058P	S	+	1	0	INPP5F	121577055	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.090000	0.71397	0.983000	0.38602	0.358000	0.22013	TCT		0.493	MCMBP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050684.1	NM_024834		C	121587065	T	C	121587065	1	2	725	0	1	0	0	0	0	0	0	0	7760	1783	62	3		3	INPP5F	10	121587065	IGR	SNP	T	TCGA-KN-8418-01A-11D-2310-10	40314438	121587065	13947682	30	40752											
BDNF	627	mdanderson.org;bcgsc.ca	37	11	27679447	27679447	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr11:27679447C>T	ENST00000525528.1	-	1	1758	c.665G>A	c.(664-666)aGc>aAc	p.S222N	BDNF_ENST00000533246.1_Missense_Mutation_p.S222N|BDNF_ENST00000584049.1_5'UTR|BDNF_ENST00000395978.3_Missense_Mutation_p.S222N|BDNF_ENST00000395983.3_Missense_Mutation_p.S222N|BDNF_ENST00000395980.2_Missense_Mutation_p.S222N|BDNF_ENST00000525950.1_Missense_Mutation_p.S222N|BDNF_ENST00000420794.1_Missense_Mutation_p.S222N|BDNF_ENST00000395981.3_Missense_Mutation_p.S222N|BDNF-AS_ENST00000530686.1_RNA|BDNF_ENST00000530861.1_Missense_Mutation_p.S222N|BDNF_ENST00000533131.1_Missense_Mutation_p.S222N|BDNF-AS_ENST00000530313.1_RNA|BDNF-AS_ENST00000499008.3_RNA|BDNF_ENST00000439476.2_Missense_Mutation_p.S222N|BDNF_ENST00000532997.1_Missense_Mutation_p.S222N|BDNF_ENST00000418212.1_Missense_Mutation_p.S222N|BDNF-AS_ENST00000501176.2_RNA|BDNF_ENST00000314915.6_Missense_Mutation_p.S230N|BDNF_ENST00000356660.4_Missense_Mutation_p.S222N|BDNF-AS_ENST00000532965.1_RNA|BDNF_ENST00000395986.2_Missense_Mutation_p.S237N|BDNF-AS_ENST00000499568.2_RNA|BDNF-AS_ENST00000502161.2_RNA|BDNF-AS_ENST00000500662.2_RNA|BDNF_ENST00000438929.1_Missense_Mutation_p.S304N	NM_170735.5	NP_733931.1	P23560	BDNF_HUMAN	brain-derived neurotrophic factor	222					axon extension (GO:0048675)|axon guidance (GO:0007411)|axon target recognition (GO:0007412)|behavioral fear response (GO:0001662)|chronic inflammatory response (GO:0002544)|circadian rhythm (GO:0007623)|dendrite development (GO:0016358)|dendrite extension (GO:0097484)|feeding behavior (GO:0007631)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glutamate secretion (GO:0014047)|inner ear development (GO:0048839)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|nerve development (GO:0021675)|nervous system development (GO:0007399)|neuron recognition (GO:0008038)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of synapse assembly (GO:0051965)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of retinal cell programmed cell death (GO:0046668)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|response to anesthetic (GO:0072347)|response to fluoxetine (GO:0014076)|response to hormone (GO:0009725)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to vitamin A (GO:0033189)|taste bud development (GO:0061193)|ureteric bud development (GO:0001657)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	growth factor activity (GO:0008083)			breast(1)|large_intestine(3)|lung(2)	6						TCTCTTTTTGCTATCCATGGT	0.443																																																0													113	116	115					11																	27679447		2202	4299	6501	SO:0001583	missense	627			AB038670	CCDS7865.1, CCDS7866.1, CCDS44558.1, CCDS41628.1	11p14.1	2014-01-30			ENSG00000176697	ENSG00000176697		"Endogenous ligands"	1033	protein-coding gene	gene with protein product	"neurotrophin"	113505				2236018, 1889806, 17942328, 17493809	Standard	NM_170731		Approved		uc009yje.3	P23560	OTTHUMG00000178797	ENST00000525528.1:c.665G>A	11.37:g.27679447C>T	ENSP00000437138:p.Ser222Asn		A7LA85|A7LA92|D3DQZ2|Q598Q1|Q6DN19|Q6YNR2|Q6YNR3|Q9BYY7|Q9UC24	Missense_Mutation	SNP	ENST00000525528.1	37	CCDS7866.1	.	.	.	.	.	.	.	.	.	.	C	9.994	1.231555	0.22626	.	.	ENSG00000176697	ENST00000439476;ENST00000525528;ENST00000395986;ENST00000533131;ENST00000356660;ENST00000418212;ENST00000533246;ENST00000530861;ENST00000395983;ENST00000438929;ENST00000395980;ENST00000532997;ENST00000395981;ENST00000395978;ENST00000525950;ENST00000314915;ENST00000420794;ENST00000528035	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36	6.08	4.01	0.46588	Nerve growth factor-related (4);	0.121472	0.85682	N	0.000000	T	0.43986	0.1272	N	0.10972	0.075	0.50467	D	0.999871	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.001;0.001;0.0;0.0;0.0	T	0.42241	-0.9463	10	0.87932	D	0	-9.2797	6.7291	0.23373	0.0:0.699:0.0:0.301	.	251;304;230;222;237	P23560-5;P23560-4;P23560-2;P23560;P23560-3	.;.;.;BDNF_HUMAN;.	N	222;222;237;222;222;222;222;222;222;304;222;222;222;222;222;230;222;174	ENSP00000389345:S222N;ENSP00000437138:S222N;ENSP00000379309:S237N;ENSP00000432727:S222N;ENSP00000349084:S222N;ENSP00000400502:S222N;ENSP00000432376:S222N;ENSP00000435564:S222N;ENSP00000379307:S222N;ENSP00000414303:S304N;ENSP00000379304:S222N;ENSP00000435805:S222N;ENSP00000379305:S222N;ENSP00000379302:S222N;ENSP00000432035:S222N;ENSP00000320002:S230N;ENSP00000389564:S222N	ENSP00000320002:S230N	S	-	2	0	BDNF	27636023	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.053000	0.49901	1.575000	0.49775	0.591000	0.81541	AGC		0.443	BDNF-016	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388135.1	NM_170735		T	27679447	C	T	27679447	3	4	725	1	0	0	0	0	1	0	0	0	1394	797	28	2	82	2	BDNF	11	27679447	Missense_Mutation	SNP	C	TCGA-KN-8418-01A-11D-2310-10		27679447	107327069	31	40753											
MTA2	9219	broad.mit.edu	37	11	62367694	62367694	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr11:62367694A>G	ENST00000278823.2	-	3	523	c.134T>C	c.(133-135)cTt>cCt	p.L45P	MTA2_ENST00000527204.1_5'UTR|MTA2_ENST00000524902.1_5'Flank	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	45	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				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						gcgccggaaaagacagacaac	0.443																																																0													125	125	125					11																	62367694		2202	4299	6501	SO:0001583	missense	9219			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.134T>C	11.37:g.62367694A>G	ENSP00000278823:p.Leu45Pro		Q68DB1|Q9UQB5	Missense_Mutation	SNP	ENST00000278823.2	37	CCDS8022.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.589262	0.86851	.	.	ENSG00000149480	ENST00000278823	D	0.86432	-2.12	5.56	5.56	0.83823	Bromo adjacent homology (BAH) domain (3);	0.000000	0.85682	D	0.000000	D	0.85639	0.5743	N	0.08118	0	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	D	0.87777	0.2609	10	0.56958	D	0.05	-13.1504	12.1235	0.53905	1.0:0.0:0.0:0.0	.	45	O94776	MTA2_HUMAN	P	45	ENSP00000278823:L45P	ENSP00000278823:L45P	L	-	2	0	MTA2	62124270	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.461000	0.66699	2.125000	0.65367	0.533000	0.62120	CTT		0.443	MTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395578.1	NM_004739		G	62367694	A	G	62367694	3	3	725	1	0	0	0	0	1	0	0	0	9911	72	3	3	1936	3	MTA2	11	62367694	Missense_Mutation	SNP	A	TCGA-KN-8418-01A-11D-2310-10	34688247	62367694	72638822	32	40754											
BACE1	23621	broad.mit.edu;hgsc.bcm.edu	37	11	117163878	117163880	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	CAG	CAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr11:117163878_117163880delCAG	ENST00000313005.6	-	5	1190_1192	c.730_732delCTG	c.(730-732)ctgdel	p.L244del	BACE1_ENST00000428381.2_In_Frame_Del_p.L175del|BACE1_ENST00000514464.1_5'Flank|BACE1_ENST00000528053.1_In_Frame_Del_p.L244del|BACE1_ENST00000392937.6_In_Frame_Del_p.L144del|BACE1_ENST00000445823.2_In_Frame_Del_p.L200del|BACE1_ENST00000513780.1_In_Frame_Del_p.L219del|BACE1_ENST00000510630.1_In_Frame_Del_p.L119del	NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3	NP_036236|NP_620427.1|NP_620428.1|NP_620429.1	P56817	BACE1_HUMAN	beta-site APP-cleaving enzyme 1	244					beta-amyloid metabolic process (GO:0050435)|membrane protein ectodomain proteolysis (GO:0006509)|proteolysis (GO:0006508)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	aspartic-type endopeptidase activity (GO:0004190)|beta-amyloid binding (GO:0001540)|beta-aspartyl-peptidase activity (GO:0008798)|enzyme binding (GO:0019899)			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)		TGCCTGTGTACAGCGAGTGGTCG	0.512																																																0																																										SO:0001651	inframe_deletion	23621			AF190725	CCDS8383.1, CCDS44739.1, CCDS44740.1, CCDS44741.1, CCDS55787.1, CCDS55786.1	11q23-q24	2011-07-27	2004-04-02	2004-04-02	ENSG00000186318	ENSG00000186318			933	protein-coding gene	gene with protein product		604252	"beta-site APP-cleaving enzyme"	BACE		10531052	Standard	NM_012104		Approved		uc001pqz.3	P56817	OTTHUMG00000160636	ENST00000313005.6:c.730_732delCTG	11.37:g.117163878_117163880delCAG	ENSP00000318585:p.Leu244del		A0M8W7|B0YIU9|E9PE65|H7BXJ9|Q9BYB9|Q9BYC0|Q9BYC1|Q9UJT5|Q9ULS1	In_Frame_Del	DEL	ENST00000313005.6	37	CCDS8383.1																																																																																				0.512	BACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361505.1			-	117163880	CAG	-	117163878	7	5	725	1	0	1	0	1	0	0	0	0	1281	465	17	0	793	0	BACE1	11	117163878	In_Frame_Del	DEL	CAG	TCGA-KN-8418-01A-11D-2310-10	54796184	117163878	17842638	33	40755	364	2									
BACE1	23621	bcgsc.ca	37	11	117163879	117163881	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	CAG	CAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr11:117163879_117163881delCAG	ENST00000313005.6	-	5	1189_1191	c.729_731delCTG	c.(727-732)tcctgg>tcg	p.W244del	BACE1_ENST00000428381.2_In_Frame_Del_p.W175del|BACE1_ENST00000514464.1_5'Flank|BACE1_ENST00000528053.1_In_Frame_Del_p.W244del|BACE1_ENST00000392937.6_In_Frame_Del_p.W144del|BACE1_ENST00000445823.2_In_Frame_Del_p.W200del|BACE1_ENST00000513780.1_In_Frame_Del_p.W219del|BACE1_ENST00000510630.1_In_Frame_Del_p.W119del	NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3	NP_036236|NP_620427.1|NP_620428.1|NP_620429.1	P56817	BACE1_HUMAN	beta-site APP-cleaving enzyme 1	244					beta-amyloid metabolic process (GO:0050435)|membrane protein ectodomain proteolysis (GO:0006509)|proteolysis (GO:0006508)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	aspartic-type endopeptidase activity (GO:0004190)|beta-amyloid binding (GO:0001540)|beta-aspartyl-peptidase activity (GO:0008798)|enzyme binding (GO:0019899)			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)		GCCTGTGTACAGCGAGTGGTCGA	0.512																																																0																																										SO:0001651	inframe_deletion	23621			AF190725	CCDS8383.1, CCDS44739.1, CCDS44740.1, CCDS44741.1, CCDS55787.1, CCDS55786.1	11q23-q24	2011-07-27	2004-04-02	2004-04-02	ENSG00000186318	ENSG00000186318			933	protein-coding gene	gene with protein product		604252	"beta-site APP-cleaving enzyme"	BACE		10531052	Standard	NM_012104		Approved		uc001pqz.3	P56817	OTTHUMG00000160636	ENST00000313005.6:c.729_731delCTG	11.37:g.117163879_117163881delCAG	ENSP00000318585:p.Trp244del		A0M8W7|B0YIU9|E9PE65|H7BXJ9|Q9BYB9|Q9BYC0|Q9BYC1|Q9UJT5|Q9ULS1	In_Frame_Del	DEL	ENST00000313005.6	37	CCDS8383.1																																																																																				0.512	BACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361505.1			-	117163881	CAG	-	117163879	7	5	725	1	0	1	0	1	0	0	0	0	1281	188	7	0	794	0	BACE1	11	117163879	In_Frame_Del	DEL	CAG	TCGA-KN-8418-01A-11D-2310-10	1	117163879	17842637	34	40756	364	2									
VWF	7450	ucsc.edu	37	12	6181608	6181608	+	Splice_Site	SNP	T	T	C			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr12:6181608T>C	ENST00000261405.5	-	9	1252	c.998A>G	c.(997-999)gAg>gGg	p.E333G		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	333	TIL 1.				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)	GAGCTGTCCCTCTGGGGTCAA	0.572																																																0													74	58	63					12																	6181608		2203	4300	6503	SO:0001630	splice_region_variant	7450				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.998-1A>G	12.37:g.6181608T>C			Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	T	19.66	3.868610	0.72065	.	.	ENSG00000110799	ENST00000261405	D	0.91577	-2.87	5.55	5.55	0.83447	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (2);	0.000000	0.43919	D	0.000511	D	0.95847	0.8648	M	0.88450	2.955	0.80722	D	1	P;D	0.71674	0.775;0.998	B;D	0.83275	0.438;0.996	D	0.96404	0.9299	10	0.66056	D	0.02	.	14.5333	0.67942	0.0:0.0:0.0:1.0	.	333;333	B4DNX0;P04275	.;VWF_HUMAN	G	333	ENSP00000261405:E333G	ENSP00000261405:E333G	E	-	2	0	VWF	6051869	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	1.258000	0.32944	2.112000	0.64535	0.459000	0.35465	GAG		0.572	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552	Missense_Mutation	C	6181608	T	C	6181608	5	2	725	1	0	0	0	0	0	0	1	0	17251	1565	54	3	7619	3	VWF	12	6181608	Splice_Site	SNP	T	TCGA-KN-8418-01A-11D-2310-10		6181608	127670287	35	40757											
SPERT	220082	mdanderson.org	37	13	46288145	46288145	+	Missense_Mutation	SNP	A	A	G	rs7317245	byFrequency	TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr13:46288145A>G	ENST00000310521.1	+	3	1065	c.985A>G	c.(985-987)Aag>Gag	p.K329E	SPERT_ENST00000378966.3_Missense_Mutation_p.K293E	NM_152719.1	NP_689932.1	Q8NA61	SPERT_HUMAN	spermatid associated	329			K -> E (in dbSNP:rs7317245).			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)		CGCCCTGCGGAAGATGGTCAG	0.716													g|||	2477	0.494609	0.3003	0.4914	5008	,	,		15278	0.5		0.6869	False		,,,				2504	0.5562															0									GLU/LYS	1638,2406		401,836,785	4	4	4		985	3.2	0.9	13	dbSNP_116	4	5608,2244		2132,1344,450	yes	missense	SPERT	NM_152719.1	56	2533,2180,1235	GG,GA,AA		28.5787,40.5045,39.0888	benign	329/449	46288145	7246,4650	2022	3926	5948	SO:0001583	missense	220082			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.985A>G	13.37:g.46288145A>G	ENSP00000309189:p.Lys329Glu		A8K8I5|Q8NHV2	Missense_Mutation	SNP	ENST00000310521.1	37	CCDS9399.1	1169	0.5352564102564102	163	0.3313008130081301	196	0.5414364640883977	285	0.4982517482517482	525	0.6926121372031663	G	0.009	-1.812861	0.00600	0.405045	0.714213	ENSG00000174015	ENST00000310521;ENST00000378966	T;T	0.39056	1.1;1.19	4.9	3.16	0.36331	.	0.382628	0.22713	N	0.056559	T	0.00012	0.0000	N	0.01352	-0.895	0.58432	P	1.999999999946489E-6	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.44050	-0.9353	9	0.02654	T	1	.	5.0269	0.14389	0.19:0.1856:0.6243:0.0	rs7317245;rs61188622;rs7317245	293;329	Q8NA61-2;Q8NA61	.;SPERT_HUMAN	E	329;293	ENSP00000309189:K329E;ENSP00000368249:K293E	ENSP00000309189:K329E	K	+	1	0	SPERT	45186146	0.996000	0.38824	0.890000	0.34922	0.030000	0.12068	1.217000	0.32455	0.277000	0.22141	-0.119000	0.15052	AAG		0.716	SPERT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044786.2	NM_152719		G	46288145	A	G	46288145	3	3	725	1	0	0	0	0	1	0	0	0	15044	247	9	3	995	3	SPERT	13	46288145	Missense_Mutation	SNP	A	TCGA-KN-8418-01A-11D-2310-10		46288145	68881733	36	40758											
DMXL2	23312	broad.mit.edu	37	15	51787229	51787229	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr15:51787229A>G	ENST00000251076.5	-	19	5062	c.4775T>C	c.(4774-4776)cTt>cCt	p.L1592P	DMXL2_ENST00000543779.2_Missense_Mutation_p.L1592P|DMXL2_ENST00000449909.3_Missense_Mutation_p.L956P|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1592						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)		ACCTTGATGAAGTAGCTGCAC	0.403																																																0													106	95	99					15																	51787229		2195	4293	6488	SO:0001583	missense	23312			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"WD repeat domain containing"	2938	protein-coding gene	gene with protein product	"rabconnectin 3"	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.4775T>C	15.37:g.51787229A>G	ENSP00000251076:p.Leu1592Pro		B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.602697	0.87157	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.41758	0.99;0.99;0.99	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.61652	0.2364	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.965;0.998;0.999	T	0.62950	-0.6745	10	0.56958	D	0.05	.	15.7131	0.77646	1.0:0.0:0.0:0.0	.	1592;956;1592	F5GWF1;B2RTR3;Q8TDJ6	.;.;DMXL2_HUMAN	P	1592;1592;956	ENSP00000251076:L1592P;ENSP00000441858:L1592P;ENSP00000400855:L956P	ENSP00000251076:L1592P	L	-	2	0	DMXL2	49574521	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	8.930000	0.92872	2.194000	0.70268	0.482000	0.46254	CTT		0.403	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		G	51787229	A	G	51787229	3	3	725	1	0	0	0	0	1	0	0	0	4597	72	3	3	4438	3	DMXL2	15	51787229	Missense_Mutation	SNP	A	TCGA-KN-8418-01A-11D-2310-10		51787229	50744163	37	40759											
HEXA	3073	broad.mit.edu	37	15	72640036	72640037	+	Frame_Shift_Ins	INS	-	-	T			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr15:72640036_72640037insT	ENST00000268097.5	-	10	1639_1640	c.1136_1137insA	c.(1135-1137)aatfs	p.N379fs	HEXA_ENST00000567159.1_Frame_Shift_Ins_p.N379fs|RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000566304.1_Frame_Shift_Ins_p.N390fs|HEXA_ENST00000429918.2_Frame_Shift_Ins_p.N206fs|HEXA_ENST00000457859.2_Intron|RP11-106M3.3_ENST00000570175.1_RNA	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	379					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						CCTTTACTTTATTATCAAACAC	0.545																																																0																																										SO:0001589	frameshift_variant	3073			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.1137dupA	15.37:g.72640038_72640038dupT	ENSP00000268097:p.Asn379fs		B4DKE7|E7ENH7|Q53HS8|Q6AI32	Frame_Shift_Ins	INS	ENST00000268097.5	37	CCDS10243.1																																																																																				0.545	HEXA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257317.2	NM_000520		T	72640037	-	T	72640036	7	5	725	1	0	1	1	0	0	0	0	0	7075	446	16	0	472	0	HEXA	15	72640036	Frame_Shift_Ins	INS	-	TCGA-KN-8418-01A-11D-2310-10	20852807	72640036	29891356	38	40760											
CHTF18	63922	broad.mit.edu	37	16	840180	840180	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr16:840180T>C	ENST00000262315.9	+	5	673	c.610T>C	c.(610-612)Tct>Cct	p.S204P	RPUSD1_ENST00000565809.1_5'Flank|CHTF18_ENST00000317063.6_Missense_Mutation_p.S401P|CHTF18_ENST00000455171.2_Missense_Mutation_p.S232P|RPUSD1_ENST00000007264.2_5'Flank|RPUSD1_ENST00000561734.1_5'Flank|CHTF18_ENST00000491530.1_3'UTR|RPUSD1_ENST00000567114.1_5'Flank	NM_022092.2	NP_071375.1	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	204					cell cycle (GO:0007049)|DNA replication (GO:0006260)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				CCCACAGGGCTCTCTCCTCCA	0.657																																																0													32	36	35					16																	840180		2047	4196	6243	SO:0001583	missense	63922			BC018184	CCDS45371.1	16p13.3	2010-04-21	2003-12-09		ENSG00000127586	ENSG00000127586		"ATPases / AAA-type"	18435	protein-coding gene	gene with protein product		613201	"chromosome 16 open reading frame 41"	C16orf41		12171929	Standard	NM_022092		Approved	CHL12, C321D2.4, Ctf18	uc002cke.4	Q8WVB6	OTTHUMG00000047838	ENST00000262315.9:c.610T>C	16.37:g.840180T>C	ENSP00000262315:p.Ser204Pro		B7ZBA2|D3DU68|Q7Z6Y4|Q7Z6Y6|Q9BR83|Q9BRG5|Q9H7K3	Missense_Mutation	SNP	ENST00000262315.9	37	CCDS45371.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.836|8.836	0.941125|0.941125	0.18281|0.18281	.|.	.|.	ENSG00000127586|ENSG00000127586	ENST00000426047|ENST00000317063;ENST00000455171;ENST00000262315	.|T;T;T	.|0.11169	.|2.8;2.86;2.86	4.9|4.9	0.411|0.411	0.16392|0.16392	.|.	.|1.230480	.|0.05417	.|N	.|0.543613	T|T	0.03178|0.03178	0.0093|0.0093	N|N	0.00841|0.00841	-1.15|-1.15	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.02656	.|0.0;0.0;0.0	.|B;B;B	.|0.06405	.|0.0;0.002;0.0	T|T	0.37361|0.37361	-0.9709|-0.9709	5|10	.|0.26408	.|T	.|0.33	-3.3244|-3.3244	4.3262|4.3262	0.11041|0.11041	0.0:0.6021:0.185:0.2129|0.0:0.6021:0.185:0.2129	.|.	.|204;232;204	.|B4DEY3;Q8WVB6-2;Q8WVB6	.|.;.;CTF18_HUMAN	P|P	99|401;232;204	.|ENSP00000313029:S401P;ENSP00000406252:S232P;ENSP00000262315:S204P	.|ENSP00000262315:S204P	L|S	+|+	2|1	0|0	CHTF18|CHTF18	780181|780181	0.000000|0.000000	0.05858|0.05858	0.003000|0.003000	0.11579|0.11579	0.002000|0.002000	0.02628|0.02628	0.161000|0.161000	0.16481|0.16481	1.123000|1.123000	0.41961|0.41961	-0.876000|-0.876000	0.02978|0.02978	CTC|TCT		0.657	CHTF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109061.3	NM_022092		C	840180	T	C	840180	3	2	725	1	0	0	0	0	1	0	0	0	3416	1551	54	3	628	3	CHTF18	16	840180	Missense_Mutation	SNP	T	TCGA-KN-8418-01A-11D-2310-10		840180	89514573	39	40761											
TP53	7157	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	17	7578396	7578396	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr17:7578396G>T	ENST00000269305.4	-	5	723	c.534C>A	c.(532-534)caC>caA	p.H178Q	TP53_ENST00000359597.4_Missense_Mutation_p.H178Q|TP53_ENST00000420246.2_Missense_Mutation_p.H178Q|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.H178Q|TP53_ENST00000445888.2_Missense_Mutation_p.H178Q|TP53_ENST00000413465.2_Missense_Mutation_p.H178Q	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	178	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 -> HPHP (in a Burkitt lymphoma). {ECO:0000269|PubMed:1303181}.|H -> L (in a sporadic cancer; 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 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.P177_C182delPHHERC(8)|p.H179Y(8)|p.0?(8)|p.H178Q(5)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.H178H(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.R175_H178>X(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.H178del(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H178fs*3(1)|p.H85_S90delHHERCS(1)|p.R174fs*3(1)|p.H178_H179>QY(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)	AGCGCTCATGGTGGGGGCAGC	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)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	71	Deletion - In frame(26)|Deletion - Frameshift(18)|Substitution - Missense(13)|Whole gene deletion(8)|Complex - deletion inframe(2)|Substitution - coding silent(2)|Insertion - Frameshift(1)|Complex - compound substitution(1)	large_intestine(17)|upper_aerodigestive_tract(12)|skin(8)|breast(8)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(4)|oesophagus(4)|bone(4)|ovary(3)|lung(2)|pancreas(2)|stomach(1)|thymus(1)|liver(1)											47	48	47					17																	7578396		2203	4300	6503	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.534C>A	17.37:g.7578396G>T	ENSP00000269305:p.His178Gln		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	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.143016	0.77888	.	.	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	5.59	1.36	0.22044	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.050213	0.85682	D	0.000000	D	0.99504	0.9823	M	0.69248	2.105	0.58432	D	0.999995	D;D;D;D;D;D;D	0.89917	0.998;1.0;0.975;1.0;1.0;1.0;1.0	D;D;P;D;D;D;D	0.97110	0.973;0.999;0.808;0.997;1.0;1.0;0.999	D	0.99425	1.0934	10	0.87932	D	0	-32.3354	5.932	0.19144	0.2114:0.0:0.6512:0.1374	.	139;178;178;85;178;178;178	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Q	178;178;178;178;178;178;167;85;46;85;46	ENSP00000410739:H178Q;ENSP00000352610:H178Q;ENSP00000269305:H178Q;ENSP00000398846:H178Q;ENSP00000391127:H178Q;ENSP00000391478:H178Q;ENSP00000425104:H46Q;ENSP00000423862:H85Q	ENSP00000269305:H178Q	H	-	3	2	TP53	7519121	1.000000	0.71417	0.990000	0.47175	0.866000	0.49608	4.023000	0.57211	0.113000	0.18004	-0.140000	0.14226	CAC		0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7578396	G	T	7578396	3	4	725	1	0	0	0	0	1	0	0	0	16386	1252	44	4	764	4	TP53	17	7578396	Missense_Mutation	SNP	G	TCGA-KN-8418-01A-11D-2310-10		7578396	73616814	40	40762											
ATAD5	79915	broad.mit.edu	37	17	29161986	29161986	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr17:29161986T>C	ENST00000321990.4	+	2	1265	c.887T>C	c.(886-888)gTc>gCc	p.V296A	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	296					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)				TCTGAAACTGTCGACGAAATA	0.363																																																0													43	45	45					17																	29161986		2203	4299	6502	SO:0001583	missense	79915				CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"ATPases / AAA-type"	25752	protein-coding gene	gene with protein product	"enhanced level of genomic instability 1 homolog (S. cerevisiae)"	609534	"chromosome 17 open reading frame 41"	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.887T>C	17.37:g.29161986T>C	ENSP00000313171:p.Val296Ala		Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	T	5.654	0.305365	0.10678	.	.	ENSG00000176208	ENST00000321990	T	0.14266	2.52	5.91	-0.71	0.11234	.	1.819450	0.02672	N	0.108661	T	0.07728	0.0194	N	0.21448	0.665	0.09310	N	1	B;B	0.16603	0.018;0.003	B;B	0.12156	0.007;0.001	T	0.21075	-1.0256	10	0.08837	T	0.75	.	1.8808	0.03227	0.1166:0.3259:0.2497:0.3077	.	296;296	Q96QE3-2;Q96QE3	.;ATAD5_HUMAN	A	296	ENSP00000313171:V296A	ENSP00000313171:V296A	V	+	2	0	ATAD5	26186112	0.010000	0.17322	0.001000	0.08648	0.567000	0.35839	-0.188000	0.09642	-0.091000	0.12440	0.533000	0.62120	GTC		0.363	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		C	29161986	T	C	29161986	3	2	725	1	0	0	0	0	1	0	0	0	1076	1667	58	3	893	3	ATAD5	17	29161986	Missense_Mutation	SNP	T	TCGA-KN-8418-01A-11D-2310-10	21583590	29161986	52033224	41	40763											
GRB7	2886	ucsc.edu	37	17	37901742	37901742	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr17:37901742A>G	ENST00000309156.4	+	11	1417	c.1160A>G	c.(1159-1161)aAc>aGc	p.N387S	GRB7_ENST00000445327.2_Missense_Mutation_p.N410S|GRB7_ENST00000309185.3_Missense_Mutation_p.N387S|GRB7_ENST00000394204.1_Missense_Mutation_p.N387S|GRB7_ENST00000394211.3_Missense_Mutation_p.N387S|GRB7_ENST00000394209.2_Missense_Mutation_p.N387S	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	387					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)			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)			GTCATTGAGAACCCCCGGGAG	0.607																																																0													63	67	66					17																	37901742		2203	4300	6503	SO:0001583	missense	2886			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.1160A>G	17.37:g.37901742A>G	ENSP00000310771:p.Asn387Ser		B2RAV1|B3KNL0|B3KWP9|B7WP75|J3KQM4|Q53YD3|Q92568|Q96DF9|Q9Y220	Missense_Mutation	SNP	ENST00000309156.4	37	CCDS11345.1	.	.	.	.	.	.	.	.	.	.	A	17.46	3.394536	0.62066	.	.	ENSG00000141738	ENST00000309185;ENST00000309156;ENST00000394211;ENST00000394209;ENST00000445327;ENST00000394204	T;T;T;T;T;T	0.63255	-0.03;1.29;1.29;1.29;1.26;-0.03	5.97	5.97	0.96955	BPS (Between PH and SH2) domain (1);	0.000000	0.85682	D	0.000000	T	0.79429	0.4444	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.80764	0.994;0.991	T	0.81111	-0.1081	10	0.56958	D	0.05	-35.7628	15.433	0.75116	1.0:0.0:0.0:0.0	.	387;387	Q14451-2;Q14451	.;GRB7_HUMAN	S	387;387;387;387;410;387	ENSP00000311752:N387S;ENSP00000310771:N387S;ENSP00000377761:N387S;ENSP00000377759:N387S;ENSP00000403459:N410S;ENSP00000377754:N387S	ENSP00000310771:N387S	N	+	2	0	GRB7	35155268	1.000000	0.71417	1.000000	0.80357	0.011000	0.07611	7.419000	0.80179	2.288000	0.76882	0.533000	0.62120	AAC		0.607	GRB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257024.2	NM_005310		G	37901742	A	G	37901742	3	3	725	1	0	0	0	0	1	0	0	0	6761	43	2	3	1198	3	GRB7	17	37901742	Missense_Mutation	SNP	A	TCGA-KN-8418-01A-11D-2310-10	8739756	37901742	43293468	42	40764											
BPTF	2186	broad.mit.edu;mdanderson.org	37	17	65889530	65889530	+	Silent	SNP	C	C	T			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr17:65889530C>T	ENST00000321892.4	+	8	2539	c.2478C>T	c.(2476-2478)acC>acT	p.T826T	BPTF_ENST00000424123.3_Silent_p.T687T|BPTF_ENST00000306378.6_Silent_p.T700T|BPTF_ENST00000335221.5_Silent_p.T826T			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	826					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)			GGTTGAGCACCAAAAAGGAAG	0.343																																																0													55	53	53					17																	65889530		2202	4300	6502	SO:0001819	synonymous_variant	2186			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"Zinc fingers, PHD-type"	3581	protein-coding gene	gene with protein product		601819	"fetal Alzheimer antigen"	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.2478C>T	17.37:g.65889530C>T			Q6NX67|Q7Z7D6|Q9UIG2	Silent	SNP	ENST00000321892.4	37																																																																																					0.343	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		T	65889530	C	T	65889530	2	4	725	1	0	0	0	0	0	0	0	1	1497	581	21	2		2	BPTF	17	65889530	Silent	SNP	C	TCGA-KN-8418-01A-11D-2310-10	27987788	65889530	15305680	43	40765											
MUC16	94025	mdanderson.org	37	19	8999395	8999395	+	Missense_Mutation	SNP	T	T	C	rs200813849		TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr19:8999395T>C	ENST00000397910.4	-	56	40983	c.40780A>G	c.(40780-40782)Aat>Gat	p.N13594D	MUC16_ENST00000380951.5_Missense_Mutation_p.N235D	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13596	SEA 10. {ECO:0000255|PROSITE- ProRule:PRU00188}.			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						TACTCACCATTGACATAGAGA	0.562																																																0													231	193	205					19																	8999395		2076	4217	6293	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.40780A>G	19.37:g.8999395T>C	ENSP00000381008:p.Asn13594Asp		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	13.42	2.232301	0.39498	.	.	ENSG00000181143	ENST00000397910;ENST00000380951	T;T	0.37584	1.19;1.19	3.48	2.46	0.29980	SEA (1);	.	.	.	.	T	0.56891	0.2016	M	0.86343	2.81	.	.	.	B;P	0.48911	0.235;0.917	B;D	0.63488	0.029;0.915	T	0.63659	-0.6587	8	0.52906	T	0.07	.	5.163	0.15071	0.0:0.1391:0.0:0.8609	.	21239;13594	Q8WXI7;B5ME49	MUC16_HUMAN;.	D	13594;235	ENSP00000381008:N13594D;ENSP00000370338:N235D	ENSP00000370338:N235D	N	-	1	0	MUC16	8860395	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	1.033000	0.30191	0.554000	0.29061	0.454000	0.30748	AAT		0.562	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		C	8999395	T	C	8999395	3	2	725	1	0	0	0	0	1	0	0	0	9975	1812	63	3	2859	3	MUC16	19	8999395	Missense_Mutation	SNP	T	TCGA-KN-8418-01A-11D-2310-10		8999395	50129588	44	40766											
MUC16	94025	mdanderson.org	37	19	9002587	9002587	+	Missense_Mutation	SNP	C	C	T	rs201053591		TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr19:9002587C>T	ENST00000397910.4	-	51	40432	c.40229G>A	c.(40228-40230)cGg>cAg	p.R13410Q	MUC16_ENST00000380951.5_Missense_Mutation_p.R51Q	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13412	SEA 9. {ECO:0000255|PROSITE- ProRule:PRU00188}.				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						CCAGTACAGCCGCTCTCTGTC	0.597																																																0													133	121	125					19																	9002587		2098	4222	6320	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.40229G>A	19.37:g.9002587C>T	ENSP00000381008:p.Arg13410Gln		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	6.604|6.604	0.479880|0.479880	0.12581|0.12581	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000542240|ENST00000397910;ENST00000380951	.|T;T	.|0.28666	.|1.6;1.6	2.75|2.75	-5.21|-5.21	0.02815|0.02815	.|SEA (1);	.|.	.|.	.|.	.|.	T|T	0.24236|0.24236	0.0587|0.0587	.|.	.|.	.|.	.|.	.|.	.|.	.|B;P	.|0.50528	.|0.007;0.936	.|B;P	.|0.48089	.|0.003;0.566	T|T	0.32693|0.32693	-0.9897|-0.9897	3|7	.|0.08381	.|T	.|0.77	1.1855|1.1855	14.8189|14.8189	0.70055|0.70055	0.0:0.774:0.0:0.226|0.0:0.774:0.0:0.226	.|.	.|21055;13410	.|Q8WXI7;B5ME49	.|MUC16_HUMAN;.	S|Q	250|13410;51	.|ENSP00000381008:R13410Q;ENSP00000370338:R51Q	.|ENSP00000370338:R51Q	G|R	-|-	1|2	0|0	MUC16|MUC16	8863587|8863587	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-2.436000|-2.436000	0.01019|0.01019	-2.287000|-2.287000	0.00669|0.00669	-2.545000|-2.545000	0.00179|0.00179	GGC|CGG		0.597	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9002587	C	T	9002587	3	4	725	1	0	0	0	0	1	0	0	0	9975	652	23	1	3430	1	MUC16	19	9002587	Missense_Mutation	SNP	C	TCGA-KN-8418-01A-11D-2310-10	3192	9002587	50126396	45	40767											
MUC16	94025	mdanderson.org	37	19	9018539	9018539	+	Silent	SNP	C	C	T			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr19:9018539C>T	ENST00000397910.4	-	24	37838	c.37635G>A	c.(37633-37635)ctG>ctA	p.L12545L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12547	SEA 4. {ECO:0000255|PROSITE- ProRule:PRU00188}.				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						TGAGGGTGAACAGCACCAGGA	0.468																																																0													214	183	193					19																	9018539		1952	4160	6112	SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.37635G>A	19.37:g.9018539C>T			Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																				0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9018539	C	T	9018539	2	4	725	1	0	0	0	0	0	0	0	1	9975	465	17	2		2	MUC16	19	9018539	Silent	SNP	C	TCGA-KN-8418-01A-11D-2310-10	15952	9018539	50110444	46	40768											
CACNA1A	773	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	19	13340907	13340907	+	Silent	SNP	G	G	A	rs372083869		TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr19:13340907G>A	ENST00000360228.5	-	36	5516	c.5517C>T	c.(5515-5517)gaC>gaT	p.D1839D	CACNA1A_ENST00000574822.1_5'UTR|CACNA1A_ENST00000573710.2_Silent_p.D1840D	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1840					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	AAGCTGCGGGGTCATACTCGG	0.597																																																0													63	69	67					19																	13340907		2063	4228	6291	SO:0001819	synonymous_variant	773			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.5517C>T	19.37:g.13340907G>A			J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Silent	SNP	ENST00000360228.5	37	CCDS45998.1																																																																																				0.597	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		A	13340907	G	A	13340907	2	1	725	1	0	0	0	0	0	0	0	1	2540	1252	44	2		2	CACNA1A	19	13340907	Silent	SNP	G	TCGA-KN-8418-01A-11D-2310-10	4322368	13340907	45788076	47	40769											
SPINT2	10653	broad.mit.edu;mdanderson.org	37	19	38782514	38782514	+	Silent	SNP	G	G	A			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr19:38782514G>A	ENST00000301244.7	+	7	1062	c.627G>A	c.(625-627)ttG>ttA	p.L209L	CTB-102L5.4_ENST00000591889.1_Intron|Y_RNA_ENST00000363339.1_RNA|SPINT2_ENST00000454580.3_Silent_p.L152L|SPINT2_ENST00000587090.1_Silent_p.L159L	NM_021102.3	NP_066925.1	O43291	SPIT2_HUMAN	serine peptidase inhibitor, Kunitz type, 2	209					cellular component movement (GO:0006928)|negative regulation of endopeptidase activity (GO:0010951)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			large_intestine(2)|lung(1)|ovary(1)	4	all_cancers(60;6.83e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TGATGGTGTTGATCCTCTTCC	0.647																																																0													89	71	77					19																	38782514		2203	4300	6503	SO:0001819	synonymous_variant	10653			U78095	CCDS12510.1, CCDS54261.1	19q13.2	2010-05-12	2005-08-17		ENSG00000167642	ENSG00000167642			11247	protein-coding gene	gene with protein product	"placental bikunin"	605124	"serine protease inhibitor, Kunitz type, 2"			9115294, 9346890	Standard	NM_021102		Approved	Kop, HAI-2	uc002ohr.2	O43291		ENST00000301244.7:c.627G>A	19.37:g.38782514G>A			A8K667|B4DLU1|O00271|O14895|Q5TZQ3|Q969E0	Silent	SNP	ENST00000301244.7	37	CCDS12510.1																																																																																				0.647	SPINT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458151.2			A	38782514	G	A	38782514	2	1	725	1	0	0	0	0	0	0	0	1	15074	1281	45	2		2	SPINT2	19	38782514	Silent	SNP	G	TCGA-KN-8418-01A-11D-2310-10	25441607	38782514	20346469	48	40770											
ZNF28	7576	mdanderson.org	37	19	53303332	53303332	+	Missense_Mutation	SNP	C	C	T	rs142442328		TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr19:53303332C>T	ENST00000457749.2	-	4	1885	c.1766G>A	c.(1765-1767)cGg>cAg	p.R589Q	ZNF28_ENST00000414252.2_Missense_Mutation_p.R536Q|ZNF28_ENST00000438150.2_Missense_Mutation_p.R536Q|ZNF28_ENST00000360272.4_Missense_Mutation_p.R536Q	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	589					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)		TGAATCCCTCCGGAAAGCCTT	0.443																																																0													161	161	161					19																	53303332		2203	4300	6503	SO:0001583	missense	7576			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.1766G>A	19.37:g.53303332C>T	ENSP00000397693:p.Arg589Gln		A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Missense_Mutation	SNP	ENST00000457749.2	37	CCDS33093.2	.	.	.	.	.	.	.	.	.	.	-	0.725	-0.782048	0.02907	.	.	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252;ENST00000391783	T;T;T;T;T	0.07444	3.19;3.19;3.19;3.19;3.19	1.61	-3.23	0.05109	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05823	0.0152	L	0.39085	1.19	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27468	-1.0073	9	0.46703	T	0.11	.	3.1903	0.06615	0.1094:0.4603:0.1859:0.2444	.	589	P17035	ZNF28_HUMAN	Q	536;589;536;536;536	ENSP00000412143:R536Q;ENSP00000397693:R589Q;ENSP00000353410:R536Q;ENSP00000444965:R536Q;ENSP00000375661:R536Q	ENSP00000353410:R536Q	R	-	2	0	ZNF28	57995144	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-6.783000	0.00054	-4.045000	0.00079	-2.453000	0.00207	CGG		0.443	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969		T	53303332	C	T	53303332	3	4	725	1	0	0	0	0	1	0	0	0	17818	652	23	1	394	1	ZNF28	19	53303332	Missense_Mutation	SNP	C	TCGA-KN-8418-01A-11D-2310-10	14520818	53303332	5825651	49	40771											
USP29	57663	broad.mit.edu;mdanderson.org;bcgsc.ca	37	19	57641826	57641826	+	Missense_Mutation	SNP	G	G	A	rs141050797		TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr19:57641826G>A	ENST00000254181.4	+	4	2237	c.1783G>A	c.(1783-1785)Gtt>Att	p.V595I	USP29_ENST00000598197.1_Missense_Mutation_p.V595I	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	595	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)		GGTTCTACCCGTTGAACCAGA	0.488													A|||	1	0.000199681	0.0008	0.0	5008	,	,		19382	0.0		0.0	False		,,,				2504	0.0															0								A	ILE/VAL	3,4403	824.5+/-416.5	0,3,2200	69	68	68		1783	-4.2	0	19	dbSNP_134	68	0,8600		0,0,4300	yes	missense	USP29	NM_020903.2	29	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	benign	595/923	57641826	3,13003	2203	4300	6503	SO:0001583	missense	57663				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.1783G>A	19.37:g.57641826G>A	ENSP00000254181:p.Val595Ile			Missense_Mutation	SNP	ENST00000254181.4	37	CCDS33124.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	0.004	-2.321542	0.00232	6.81E-4	0.0	ENSG00000131864	ENST00000254181	T	0.48522	0.81	2.09	-4.19	0.03835	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	.	.	.	.	T	0.14356	0.0347	N	0.01048	-1.04	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.23762	-1.0179	9	0.06236	T	0.91	-0.3075	10.5526	0.45099	0.4498:0.0:0.5502:0.0	.	595	Q9HBJ7	UBP29_HUMAN	I	595	ENSP00000254181:V595I	ENSP00000254181:V595I	V	+	1	0	USP29	62333638	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.795000	0.04580	-2.562000	0.00473	-2.832000	0.00106	GTT		0.488	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			A	57641826	G	A	57641826	3	1	725	1	0	0	0	0	1	0	0	0	17064	1145	40	1	1785	1	USP29	19	57641826	Missense_Mutation	SNP	G	TCGA-KN-8418-01A-11D-2310-10	4338494	57641826	1487157	50	40772											
TIAM1	7074	broad.mit.edu;hgsc.bcm.edu	37	21	32624307	32624307	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr21:32624307G>A	ENST00000286827.3	-	6	1633	c.1162C>T	c.(1162-1164)Cgg>Tgg	p.R388W	TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Missense_Mutation_p.R388W	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	388					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						AGCTCCCGCCGGAAGTTCTCG	0.687																																																0													44	51	49					21																	32624307		2203	4299	6502	SO:0001583	missense	7074				CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.1162C>T	21.37:g.32624307G>A	ENSP00000286827:p.Arg388Trp		B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	G	19.92	3.915919	0.73098	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	T;T	0.48836	0.84;0.8	4.86	0.664	0.17890	.	0.000000	0.85682	D	0.000000	T	0.61311	0.2337	L	0.55481	1.735	0.54753	D	0.999986	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.61978	-0.6951	10	0.66056	D	0.02	.	14.2083	0.65748	0.0:0.0:0.4736:0.5264	.	388;388;388	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	W	388;229;388	ENSP00000286827:R388W;ENSP00000441570:R388W	ENSP00000286827:R388W	R	-	1	2	TIAM1	31546178	1.000000	0.71417	0.056000	0.19401	0.957000	0.61999	2.596000	0.46205	-0.066000	0.12998	0.655000	0.94253	CGG		0.687	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		A	32624307	G	A	32624307	3	1	725	1	0	0	0	0	1	0	0	0	15895	1115	39	1	3709	1	TIAM1	21	32624307	Missense_Mutation	SNP	G	TCGA-KN-8418-01A-11D-2310-10		32624307	15505588	51	40773											
IFNAR1	3454	broad.mit.edu	37	21	34727798	34727798	+	Silent	SNP	T	T	C			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr21:34727798T>C	ENST00000270139.3	+	11	1769	c.1617T>C	c.(1615-1617)tcT>tcC	p.S539S	IFNAR1_ENST00000442357.2_Silent_p.S478S|IFNAR1_ENST00000416947.2_Silent_p.S470S	NM_000629.2	NP_000620.2	P17181	INAR1_HUMAN	interferon (alpha, beta and omega) receptor 1	539					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)"	GAAATTATTCTAATGAAGATG	0.333																																					Esophageal Squamous(73;817 1211 32990 35667 42746)											0													86	94	91					21																	34727798		2203	4300	6503	SO:0001819	synonymous_variant	3454				CCDS13624.1	21q22.1	2008-05-02			ENSG00000142166	ENSG00000142166		"Interferons"	5432	protein-coding gene	gene with protein product		107450		IFNAR		8181059	Standard	NM_000629		Approved	IFRC	uc002yrn.3	P17181	OTTHUMG00000065126	ENST00000270139.3:c.1617T>C	21.37:g.34727798T>C			B2R6L9|B4DNT3|D3DSF0|Q53GW9|Q53H11|Q6PKD7|Q7M4L2|Q8WTZ2	Silent	SNP	ENST00000270139.3	37	CCDS13624.1																																																																																				0.333	IFNAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139823.4			C	34727798	T	C	34727798	2	2	725	1	0	0	0	0	0	0	0	1	7546	1509	53	3		3	IFNAR1	21	34727798	Silent	SNP	T	TCGA-KN-8418-01A-11D-2310-10	2103491	34727798	13402097	52	40774											
DIP2A	23181	broad.mit.edu	37	21	47970588	47970588	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr21:47970588C>T	ENST00000417564.2	+	23	2791	c.2770C>T	c.(2770-2772)Ccg>Tcg	p.P924S	DIP2A_ENST00000427143.2_Missense_Mutation_p.P860S|DIP2A_ENST00000400274.1_Missense_Mutation_p.P920S|DIP2A_ENST00000318711.7_Missense_Mutation_p.P925S			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	924					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)		GACGCTGCACCCGTGTAATGT	0.532																																																0													77	76	76					21																	47970588		2048	4208	6256	SO:0001583	missense	23181			AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"chromosome 21 open reading frame 106"	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.2770C>T	21.37:g.47970588C>T	ENSP00000392066:p.Pro924Ser		A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Missense_Mutation	SNP	ENST00000417564.2	37	CCDS46655.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.900007	0.92035	.	.	ENSG00000160305	ENST00000400274;ENST00000427143;ENST00000318711;ENST00000417564	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.64114	0.2569	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;0.996;0.994	T	0.58476	-0.7630	10	0.19590	T	0.45	-30.2615	18.2448	0.89981	0.0:1.0:0.0:0.0	.	925;860;924	E9PER1;E7EMA5;Q14689	.;.;DIP2A_HUMAN	S	920;860;925;924	ENSP00000383133:P920S;ENSP00000400528:P860S;ENSP00000323633:P925S;ENSP00000392066:P924S	ENSP00000323633:P925S	P	+	1	0	DIP2A	46795016	1.000000	0.71417	0.997000	0.53966	0.876000	0.50452	7.680000	0.84062	2.639000	0.89480	0.655000	0.94253	CCG		0.532	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		T	47970588	C	T	47970588	3	4	725	1	0	0	0	0	1	0	0	0	4529	623	22	2	2942	2	DIP2A	21	47970588	Missense_Mutation	SNP	C	TCGA-KN-8418-01A-11D-2310-10	13242790	47970588	159307	53	40775											
NAGA	4668	broad.mit.edu;ucsc.edu;mdanderson.org	37	22	42456379	42456379	+	Silent	SNP	G	G	A			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr22:42456379G>A	ENST00000396398.3	-	9	1672	c.1140C>T	c.(1138-1140)ctC>ctT	p.L380L	NAGA_ENST00000402937.1_Silent_p.L380L|NAGA_ENST00000403363.1_Silent_p.L380L	NM_000262.2	NP_000253.1	P17050	NAGAB_HUMAN	N-acetylgalactosaminidase, alpha-	380					carbohydrate catabolic process (GO:0016052)|glycolipid catabolic process (GO:0019377)|glycoside catabolic process (GO:0016139)|glycosylceramide catabolic process (GO:0046477)|oligosaccharide metabolic process (GO:0009311)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-galactosidase activity (GO:0004557)|alpha-N-acetylgalactosaminidase activity (GO:0008456)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						TTTCATCTCGGAGGCCACTGA	0.567																																																0													179	158	165					22																	42456379		2203	4300	6503	SO:0001819	synonymous_variant	4668				CCDS14030.1	22q13.2	2010-07-09			ENSG00000198951	ENSG00000198951	3.2.1.49		7631	protein-coding gene	gene with protein product		104170					Standard	NM_000262		Approved	D22S674	uc003bbw.4	P17050	OTTHUMG00000151276	ENST00000396398.3:c.1140C>T	22.37:g.42456379G>A				Silent	SNP	ENST00000396398.3	37	CCDS14030.1																																																																																				0.567	NAGA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322056.1			A	42456379	G	A	42456379	2	1	725	1	0	0	0	0	0	0	0	1	10143	1161	41	2		2	NAGA	22	42456379	Silent	SNP	G	TCGA-KN-8418-01A-11D-2310-10		42456379	8848187	54	40776											
CTH	1491	broad.mit.edu;ucsc.edu;mdanderson.org	37	1	70897872	70897872	+	Silent	SNP	C	C	A			TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr1:70897872C>A	ENST00000370938.3	+	8	975	c.831C>A	c.(829-831)gcC>gcA	p.A277A	CTH_ENST00000411986.2_Silent_p.A245A|CTH_ENST00000346806.2_Silent_p.A233A	NM_001902.5	NP_001893.2	Q96IQ7	VSIG2_HUMAN	cystathionine gamma-lyase	0						integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						TGGCAGTTGCCCAGTTCCTGG	0.403																																																0													112	107	109					1																	70897872		2203	4300	6503	SO:0001819	synonymous_variant	1491			BC015807	CCDS650.1, CCDS651.1, CCDS53333.1	1p31.1	2014-06-24	2014-06-24		ENSG00000116761	ENSG00000116761	4.4.1.1		2501	protein-coding gene	gene with protein product		607657	"cystathionase (cystathionine gamma-lyase)"			1339280	Standard	NM_001902		Approved		uc001dfd.3	P32929	OTTHUMG00000009352	ENST00000370938.3:c.831C>A	1.37:g.70897872C>A			O95791|Q9NX42	Silent	SNP	ENST00000370938.3	37	CCDS650.1																																																																																				0.403	CTH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025918.1	NM_001902		A	70897872	C	A	70897872	2	1	726	1	0	0	0	0	0	0	0	1	4011	610	22	4		4	CTH	1	70897872	Silent	SNP	C	TCGA-KN-8419-01A-11D-2310-10		70897872	178352749	1	40777											
RPRD2	23248	broad.mit.edu	37	1	150445701	150445701	+	Missense_Mutation	SNP	C	C	T	rs377477495		TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr1:150445701C>T	ENST00000369068.4	+	11	4281	c.4277C>T	c.(4276-4278)cCt>cTt	p.P1426L	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000401000.4_Missense_Mutation_p.P1400L	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1426	Pro-rich.					DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CCTAGGGAACCTTTTCTCAGC	0.567																																																0								C	LEU/PRO	1,3791		0,1,1895	78	79	79		4277	4.6	1	1		79	0,8218		0,0,4109	no	missense	RPRD2	NM_015203.3	98	0,1,6004	TT,TC,CC		0.0,0.0264,0.0083	benign	1426/1462	150445701	1,12009	1896	4109	6005	SO:0001583	missense	23248			BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"KIAA0460"	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.4277C>T	1.37:g.150445701C>T	ENSP00000358064:p.Pro1426Leu		A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Missense_Mutation	SNP	ENST00000369068.4	37	CCDS44216.1	.	.	.	.	.	.	.	.	.	.	C	13.87	2.365145	0.41902	2.64E-4	0.0	ENSG00000163125	ENST00000401000;ENST00000369068	T;T	0.43294	0.95;0.95	4.57	4.57	0.56435	.	0.301676	0.28977	N	0.013525	T	0.16300	0.0392	N	0.24115	0.695	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.08554	-1.0716	10	0.87932	D	0	-1.5661	10.3448	0.43899	0.0:0.9097:0.0:0.0903	.	1426;1400	Q5VT52;Q5VT52-3	RPRD2_HUMAN;.	L	1400;1426	ENSP00000383785:P1400L;ENSP00000358064:P1426L	ENSP00000358064:P1426L	P	+	2	0	RPRD2	148712325	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	3.717000	0.54911	2.351000	0.79841	0.655000	0.94253	CCT		0.567	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203		T	150445701	C	T	150445701	3	4	726	1	0	0	0	0	1	0	0	0	13623	681	24	2	4319	2	RPRD2	1	150445701	Missense_Mutation	SNP	C	TCGA-KN-8419-01A-11D-2310-10	79547829	150445701	98804920	2	40778											
NAV1	89796	mdanderson.org	37	1	201618543	201618543	+	Silent	SNP	C	C	T	rs6665525	byFrequency	TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr1:201618543C>T	ENST00000367296.4	+	1	1167	c.747C>T	c.(745-747)agC>agT	p.S249S	NAV1_ENST00000295624.6_Silent_p.S249S|NAV1_ENST00000367300.3_Silent_p.S249S|NAV1_ENST00000367297.4_Silent_p.S249S|NAV1_ENST00000367302.1_Silent_p.S262S	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	249					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						TGCTCTTCAGCCAGATGCTGG	0.682													C|||	13	0.00259585	0.0098	0.0	5008	,	,		12043	0.0		0.0	False		,,,				2504	0.0															0								C		40,4282		1,38,2122	9	11	10		747	1.8	1	1	dbSNP_116	10	0,8510		0,0,4255	no	coding-synonymous	NAV1	NM_020443.4		1,38,6377	TT,TC,CC		0.0,0.9255,0.3117		249/1878	201618543	40,12792	2161	4255	6416	SO:0001819	synonymous_variant	89796			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.747C>T	1.37:g.201618543C>T			A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Silent	SNP	ENST00000367296.4	37	CCDS1414.2																																																																																				0.682	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		T	201618543	C	T	201618543	2	4	726	1	0	0	0	0	0	0	0	1	10185	738	26	2		2	NAV1	1	201618543	Silent	SNP	C	TCGA-KN-8419-01A-11D-2310-10	51172842	201618543	47632078	3	40779											
FLVCR1	28982	mdanderson.org	37	1	213031948	213031948	+	Missense_Mutation	SNP	G	G	C	rs11120047	byFrequency	TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr1:213031948G>C	ENST00000366971.4	+	1	352	c.154G>C	c.(154-156)Gcc>Ccc	p.A52P	FLVCR1-AS1_ENST00000356684.3_lincRNA	NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular receptor 1	52			A -> P (in dbSNP:rs11120047). {ECO:0000269|PubMed:15489334}.		blood vessel development (GO:0001568)|cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|head morphogenesis (GO:0060323)|heme export (GO:0097037)|heme transport (GO:0015886)|in utero embryonic development (GO:0001701)|mitochondrial transport (GO:0006839)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|regulation of organ growth (GO:0046620)|spleen development (GO:0048536)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	heme transporter activity (GO:0015232)|transporter activity (GO:0005215)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		GGTGAATGGGGCCCCCCGGGA	0.716													G|||	2226	0.444489	0.2269	0.3084	5008	,	,		12077	0.5476		0.5646	False		,,,				2504	0.6053				Esophageal Squamous(199;2235 2952 19233 26256)											0								G	PRO/ALA	992,2868		199,594,1137	3	6	5		154	3.2	0	1	dbSNP_120	5	3551,4103		951,1649,1227	yes	missense	FLVCR1	NM_014053.3	27	1150,2243,2364	CC,CG,GG		46.394,25.6995,39.4563	benign	52/556	213031948	4543,6971	1930	3827	5757	SO:0001583	missense	28982			AF118637	CCDS1510.1	1q32.3	2014-05-30			ENSG00000162769	ENSG00000162769		"Solute carriers"	24682	protein-coding gene	gene with protein product		609144	"ataxia, posterior column 1, with retinitis pigmentosa"	AXPC1		10400745, 10648427, 21070897	Standard	NM_014053		Approved	FLVCR, MFSD7B, PCA	uc001hjt.3	Q9Y5Y0	OTTHUMG00000036924	ENST00000366971.4:c.154G>C	1.37:g.213031948G>C	ENSP00000355938:p.Ala52Pro		Q1HE16|Q86XY9|Q9NVR9	Missense_Mutation	SNP	ENST00000366971.4	37	CCDS1510.1	986	0.45146520146520147	129	0.2621951219512195	129	0.356353591160221	315	0.5506993006993007	413	0.5448548812664907	G	13.29	2.193274	0.38707	0.256995	0.46394	ENSG00000162769	ENST00000366971	D	0.83250	-1.7	5.04	3.17	0.36434	.	1.238010	0.05829	N	0.617282	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.22604	0.072	B	0.23018	0.043	T	0.38845	-0.9642	9	0.30078	T	0.28	-10.6878	10.1458	0.42762	0.1646:0.0:0.8354:0.0	rs11120047;rs17846435;rs17859484;rs56728027;rs11120047	52	Q9Y5Y0	FLVC1_HUMAN	P	52	ENSP00000355938:A52P	ENSP00000355938:A52P	A	+	1	0	FLVCR1	211098571	1.000000	0.71417	0.002000	0.10522	0.010000	0.07245	5.238000	0.65366	0.534000	0.28695	-0.253000	0.11424	GCC		0.716	FLVCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089678.2	NM_014053		C	213031948	G	C	213031948	3	2	726	1	0	0	0	0	1	0	0	0	5947	1203	42	4	156	4	FLVCR1	1	213031948	Missense_Mutation	SNP	G	TCGA-KN-8419-01A-11D-2310-10	11413405	213031948	36218673	4	40780											
HHIPL2	79802	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	222721242	222721242	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr1:222721242C>T	ENST00000343410.6	-	1	203	c.145G>A	c.(145-147)Ggg>Agg	p.G49R		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	49					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)		AAAGGGGGCCCGTAATCCAGG	0.617																																																0													29	33	32					1																	222721242		1911	4126	6037	SO:0001583	missense	79802			BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"KIAA1822-like"	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.145G>A	1.37:g.222721242C>T	ENSP00000342118:p.Gly49Arg		Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Missense_Mutation	SNP	ENST00000343410.6	37	CCDS1530.2	.	.	.	.	.	.	.	.	.	.	C	0.031	-1.332411	0.01298	.	.	ENSG00000143512	ENST00000343410	T	0.70282	-0.47	4.93	-0.274	0.12910	Folate receptor-like (1);	0.414878	0.26321	N	0.025047	T	0.48390	0.1497	L	0.28400	0.85	0.21220	N	0.999754	B	0.10296	0.003	B	0.18263	0.021	T	0.29150	-1.0021	10	0.08599	T	0.76	-2.0086	6.0319	0.19684	0.0:0.5884:0.1257:0.2859	.	49	Q6UWX4	HIPL2_HUMAN	R	49	ENSP00000342118:G49R	ENSP00000342118:G49R	G	-	1	0	HHIPL2	220787865	0.006000	0.16342	0.193000	0.23327	0.352000	0.29268	0.347000	0.20014	-0.366000	0.08064	-0.136000	0.14681	GGG		0.617	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746		T	222721242	C	T	222721242	3	4	726	1	0	0	0	0	1	0	0	0	7096	652	23	1	2065	1	HHIPL2	1	222721242	Missense_Mutation	SNP	C	TCGA-KN-8419-01A-11D-2310-10	9689294	222721242	26529379	5	40781											
MERTK	10461	mdanderson.org	37	2	112656372	112656372	+	Splice_Site	SNP	A	A	T	rs35898499	byFrequency	TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr2:112656372A>T	ENST00000295408.4	+	1	317	c.60A>T	c.(58-60)agA>agT	p.R20S	MERTK_ENST00000409780.1_5'UTR|MERTK_ENST00000421804.2_Splice_Site_p.R20S			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	20			R -> S (in dbSNP:rs35898499). {ECO:0000269|PubMed:11062461, 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						TCTGGCGTAGAGGTGAGTGCG	0.741													A|||	87	0.0173722	0.0038	0.0259	5008	,	,		9832	0.0		0.0497	False		,,,				2504	0.0143															0								A	SER/ARG	29,4105		1,27,2039	5	7	6	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	60	2.3	0.7	2	dbSNP_126	6	408,7922		8,392,3765	no	missense-near-splice	MERTK	NM_006343.2	110	9,419,5804	TT,TA,AA		4.898,0.7015,3.5061	benign	20/1000	112656372	437,12027	2067	4165	6232	SO:0001630	splice_region_variant	10461			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.61+1A>T	2.37:g.112656372A>T			Q9HBB4	Missense_Mutation	SNP	ENST00000295408.4	37	CCDS2094.1	48	0.02197802197802198	1	0.0020325203252032522	12	0.03314917127071823	2	0.0034965034965034965	33	0.04353562005277045	A	4.634	0.117901	0.08881	0.007015	0.04898	ENSG00000153208	ENST00000295408;ENST00000421804	T;T	0.74421	-0.84;-0.84	3.57	2.34	0.29019	.	.	.	.	.	T	0.13927	0.0337	N	0.08118	0	0.20196	N	0.999922	B	0.14012	0.009	B	0.08055	0.003	T	0.11227	-1.0596	9	0.41790	T	0.15	.	4.9993	0.14257	0.8402:0.0:0.1598:0.0	rs35898499	20	Q12866	MERTK_HUMAN	S	20	ENSP00000295408:R20S;ENSP00000389152:R20S	ENSP00000295408:R20S	R	+	3	2	MERTK	112372843	0.688000	0.27680	0.700000	0.30305	0.009000	0.06853	0.673000	0.25203	0.694000	0.31654	0.482000	0.46254	AGA		0.741	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2		Missense_Mutation	T	112656372	A	T	112656372	5	4	726	1	0	0	0	0	0	0	1	0	9481	318	11	5	62	5	MERTK	2	112656372	Splice_Site	SNP	A	TCGA-KN-8419-01A-11D-2310-10		112656372	130543001	6	40782											
RBPJ	3516	broad.mit.edu	37	4	26432510	26432511	+	Frame_Shift_Ins	INS	-	-	G	rs1064403|rs202024680		TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr4:26432510_26432511insG	ENST00000361572.6	+	11	1578_1579	c.1384_1385insG	c.(1384-1386)cgafs	p.R462fs	RBPJ_ENST00000342320.4_Frame_Shift_Ins_p.R448fs|RBPJ_ENST00000504907.1_3'UTR|RBPJ_ENST00000345843.3_Frame_Shift_Ins_p.R447fs|RBPJ_ENST00000507561.1_Frame_Shift_Ins_p.R427fs|RBPJ_ENST00000348160.4_Frame_Shift_Ins_p.R449fs|RBPJ_ENST00000342295.1_Frame_Shift_Ins_p.R462fs|RBPJ_ENST00000355476.3_Frame_Shift_Ins_p.R448fs			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	462				R -> P (in Ref. 1; AAA60258). {ECO:0000305}.	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)				AGCAATCCTTCGAGCCAATTCA	0.5																																																0																																										SO:0001589	frameshift_variant	3516			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.1385dupG	4.37:g.26432511_26432511dupG	ENSP00000354528:p.Arg462fs		B4DY22|Q5XKH9|Q6P1N3	Frame_Shift_Ins	INS	ENST00000361572.6	37	CCDS3437.1																																																																																				0.5	RBPJ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215046.2	NM_015874		G	26432511	-	G	26432510	7	5	726	1	0	1	1	0	0	0	0	0	13167	876	31	0	1489	0	RBPJ	4	26432510	Frame_Shift_Ins	INS	-	TCGA-KN-8419-01A-11D-2310-10		26432510	164721766	7	40783											
KIAA1211	57482	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	4	57182677	57182677	+	Silent	SNP	G	G	A	rs369933689		TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr4:57182677G>A	ENST00000504228.1	+	6	3114	c.3009G>A	c.(3007-3009)ccG>ccA	p.P1003P	KIAA1211_ENST00000541073.1_Silent_p.P996P|KIAA1211_ENST00000264229.6_Silent_p.P1003P			Q6ZU35	K1211_HUMAN	KIAA1211	1003	Pro-rich.									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)					CAAGTGAGCCGTCCAAGGAGG	0.657																																																0								G		0,4048		0,0,2024	30	38	35		3009	-4.3	0	4		35	1,8335		0,1,4167	no	coding-synonymous	KIAA1211	NM_020722.1		0,1,6191	AA,AG,GG		0.012,0.0,0.0081		1003/1234	57182677	1,12383	2024	4168	6192	SO:0001819	synonymous_variant	57482			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.3009G>A	4.37:g.57182677G>A			Q9NTE2|Q9NTP8|Q9ULK9	Silent	SNP	ENST00000504228.1	37	CCDS43230.1																																																																																				0.657	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		A	57182677	G	A	57182677	2	1	726	1	0	0	0	0	0	0	0	1	8217	1132	40	1		1	KIAA1211	4	57182677	Silent	SNP	G	TCGA-KN-8419-01A-11D-2310-10	30750167	57182677	133971599	8	40784											
DSPP	1834	broad.mit.edu	37	4	88536259	88536264	+	In_Frame_Del	DEL	CAGTGA	CAGTGA	-			TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	CAGTGA	CAGTGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr4:88536259_88536264delCAGTGA	ENST00000282478.7	+	4	2478_2483	c.2445_2450delCAGTGA	c.(2443-2451)agcagtgat>agt	p.SD818del	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_In_Frame_Del_p.SD818del			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	818	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		gcagtgacagcagtgatagcgacagc	0.515																																																0																																										SO:0001651	inframe_deletion	1834			AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.2445_2450delCAGTGA	4.37:g.88536259_88536264delCAGTGA	ENSP00000282478:p.Ser818_Asp819del		A8MUI0|O95815	In_Frame_Del	DEL	ENST00000282478.7	37	CCDS43248.1																																																																																				0.515	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		-	88536264	CAGTGA	-	88536259	7	5	726	1	0	1	0	1	0	0	0	0	4784	709	25	0	2459	0	DSPP	4	88536259	In_Frame_Del	DEL	CAGTGA	TCGA-KN-8419-01A-11D-2310-10	31353582	88536259	102618017	9	40785											
FRG1	2483	mdanderson.org	37	4	190876268	190876268	+	Missense_Mutation	SNP	A	A	G	rs528665769		TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr4:190876268A>G	ENST00000226798.4	+	5	616	c.394A>G	c.(394-396)Att>Gtt	p.I132V	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	132					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)		TTCAGATGCAATTGGACCAAG	0.358																																																0													91	91	91					4																	190876268		2203	4300	6503	SO:0001583	missense	2483			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.394A>G	4.37:g.190876268A>G	ENSP00000226798:p.Ile132Val		A8K775	Missense_Mutation	SNP	ENST00000226798.4	37	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	11.81	1.749824	0.30955	.	.	ENSG00000109536	ENST00000226798;ENST00000531991	T;T	0.44083	2.0;0.93	4.04	4.04	0.47022	Actin cross-linking (1);	0.133249	0.64402	D	0.000004	T	0.31918	0.0812	L	0.42686	1.345	0.80722	D	1	B	0.18741	0.03	B	0.26693	0.072	T	0.07009	-1.0795	10	0.06891	T	0.86	2.1537	11.3071	0.49342	1.0:0.0:0.0:0.0	.	132	Q14331	FRG1_HUMAN	V	132;69	ENSP00000226798:I132V;ENSP00000435943:I69V	ENSP00000226798:I132V	I	+	1	0	FRG1	191113262	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.941000	0.75922	1.599000	0.50093	0.462000	0.41574	ATT		0.358	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		G	190876268	A	G	190876268	3	3	726	1	0	0	0	0	1	0	0	0	6048	101	4	3	412	3	FRG1	4	190876268	Missense_Mutation	SNP	A	TCGA-KN-8419-01A-11D-2310-10	102340009	190876268	278008	10	40786											
KIF4B	285643	broad.mit.edu	37	5	154394949	154394949	+	Silent	SNP	T	T	C			TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr5:154394949T>C	ENST00000435029.4	+	1	1690	c.1530T>C	c.(1528-1530)gcT>gcC	p.A510A		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	510					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)			CTTCTGACGCTTTTACCACTC	0.488																																																0													95	100	99					5																	154394949		2203	4300	6503	SO:0001819	synonymous_variant	285643			AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"Kinesins"	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.1530T>C	5.37:g.154394949T>C				Silent	SNP	ENST00000435029.4	37	CCDS47324.1																																																																																				0.488	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			C	154394949	T	C	154394949	2	2	726	1	0	0	0	0	0	0	0	1	8306	1596	56	3		3	KIF4B	5	154394949	Silent	SNP	T	TCGA-KN-8419-01A-11D-2310-10		154394949	26520311	11	40787											
F12	2161	mdanderson.org	37	5	176831544	176831544	+	Silent	SNP	G	G	A	rs41309752	byFrequency	TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr5:176831544G>A	ENST00000253496.3	-	8	804	c.756C>T	c.(754-756)gcC>gcT	p.A252A	F12_ENST00000514943.1_5'Flank	NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	252	Kringle. {ECO:0000255|PROSITE- ProRule:PRU00121}.				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)	GCGCTTGCTCGGCAGTCACGT	0.761									Hereditary Angioedema		OREG0017088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	138	0.0275559	0.0567	0.0101	5008	,	,		13984	0.0		0.007	False		,,,				2504	0.0501															0								G		211,4127		1,209,1959	10	13	12		756	-10.1	0	5	dbSNP_127	12	32,8508		0,32,4238	no	coding-synonymous	F12	NM_000505.3		1,241,6197	AA,AG,GG		0.3747,4.864,1.8869		252/616	176831544	243,12635	2169	4270	6439	SO:0001819	synonymous_variant	2161	Familial Cancer Database	HAE, type I-III, Hereditary Angioneurotic Edema, HANE,	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.756C>T	5.37:g.176831544G>A		1934	P78339	Silent	SNP	ENST00000253496.3	37	CCDS34302.1																																																																																				0.761	F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373217.1			A	176831544	G	A	176831544	2	1	726	1	0	0	0	0	0	0	0	1	5341	1103	39	1		1	F12	5	176831544	Silent	SNP	G	TCGA-KN-8419-01A-11D-2310-10	22436595	176831544	4083716	12	40788											
FLT4	2324	broad.mit.edu;mdanderson.org;bcgsc.ca	37	5	180057729	180057729	+	Missense_Mutation	SNP	C	C	T	rs202015753	byFrequency	TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr5:180057729C>T	ENST00000261937.6	-	3	304	c.226G>A	c.(226-228)Gag>Aag	p.E76K	FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Missense_Mutation_p.E76K|FLT4_ENST00000393347.3_Missense_Mutation_p.E76K	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	76	Ig-like C2-type 1.				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)	CCCGTGTCCTCGCTGTCCTTG	0.662													c|||	10	0.00199681	0.0	0.0014	5008	,	,		17527	0.0		0.0	False		,,,				2504	0.0092				Colon(97;1075 1466 27033 27547 35871)											0													129	111	117					5																	180057729		2202	4299	6501	SO:0001583	missense	2324			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.226G>A	5.37:g.180057729C>T	ENSP00000261937:p.Glu76Lys		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	CCDS4457.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	2.214	-0.380086	0.05000	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649	T;T;T	0.29397	1.57;1.57;1.57	4.94	1.91	0.25777	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.17789	0.0427	L	0.41573	1.285	0.09310	N	1	B;B;B;B;B	0.33940	0.433;0.311;0.112;0.004;0.002	B;B;B;B;B	0.25884	0.064;0.03;0.01;0.004;0.005	T	0.12243	-1.0555	9	0.23891	T	0.37	.	3.6906	0.08344	0.1438:0.5735:0.1397:0.143	.	76;76;76;76;76	B5A928;B5A927;P35916-3;E9PD35;P35916	.;.;.;.;VGFR3_HUMAN	K	76	ENSP00000261937:E76K;ENSP00000377016:E76K;ENSP00000426057:E76K	ENSP00000261937:E76K	E	-	1	0	FLT4	179990335	0.065000	0.20965	0.238000	0.24106	0.056000	0.15407	1.126000	0.31344	1.212000	0.43366	0.456000	0.33151	GAG		0.662	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			T	180057729	C	T	180057729	3	4	726	1	0	0	0	0	1	0	0	0	5946	893	31	1	3985	1	FLT4	5	180057729	Missense_Mutation	SNP	C	TCGA-KN-8419-01A-11D-2310-10	3226185	180057729	857531	13	40789											
HLA-A	3105	mdanderson.org	37	6	29911119	29911119	+	Missense_Mutation	SNP	G	G	C	rs3173419	byFrequency	TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr6:29911119G>C	ENST00000396634.1	+	5	759	c.418G>C	c.(418-420)Gac>Cac	p.D140H	HLA-A_ENST00000376809.5_Missense_Mutation_p.D140H|HLA-A_ENST00000376806.5_Missense_Mutation_p.D140H|HLA-A_ENST00000376802.2_Missense_Mutation_p.D140H			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	140	Alpha-2.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						GTACCGGCAGGACGCCTACGA	0.662									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			N|||	273	0.0545128	0.1399	0.0461	5008	,	,		11816	0.0159		0.0308	False		,,,				2504	0.0092															0													36	27	30					6																	29911119		1496	2698	4194	SO:0001583	missense	3105	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.418G>C	6.37:g.29911119G>C	ENSP00000379873:p.Asp140His		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	.	0.014	-1.580111	0.00879	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000376802	T;T;T;T	0.00009	9.49;9.49;9.49;9.49	3.78	-7.56	0.01322	MHC class I, alpha chain, alpha1/alpha2 (6);MHC classes I/II-like antigen recognition protein (3);MHC class I-like antigen recognition (3);	79.907900	0.01339	U	0.011517	T	0.00039	0.0001	L	0.47190	1.495	0.09310	N	1	B;B;B;B;B;B	0.16603	0.018;0.001;0.001;0.003;0.003;0.001	B;B;B;B;B;B	0.26969	0.064;0.051;0.061;0.075;0.075;0.051	T	0.10706	-1.0618	10	0.23302	T	0.38	.	5.3314	0.15934	0.102:0.2286:0.5197:0.1496	rs3173419;rs3175999;rs16896879;rs28749152;rs41549418	19;140;140;140;140;140	B4DVB9;P13746;Q5SRN7;Q5SRN5;P30455;P04439	.;1A11_HUMAN;.;.;1A36_HUMAN;1A03_HUMAN	H	140	ENSP00000379873:D140H;ENSP00000366002:D140H;ENSP00000366005:D140H;ENSP00000365998:D140H	ENSP00000365998:D140H	D	+	1	0	HLA-A	30019098	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-9.138000	0.00013	-2.332000	0.00632	-4.658000	0.00004	GAC		0.662	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		C	29911119	G	C	29911119	3	2	726	1	0	0	0	0	1	0	0	0	7197	1174	41	4	428	4	HLA-A	6	29911119	Missense_Mutation	SNP	G	TCGA-KN-8419-01A-11D-2310-10		29911119	141203948	14	40790											
RSPH10B	728194	mdanderson.org	37	7	6836259	6836259	+	Missense_Mutation	SNP	C	C	T	rs2528353	byFrequency	TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr7:6836259C>T	ENST00000403107.1	+	19	2681	c.2294C>T	c.(2293-2295)aCg>aTg	p.T765M	CCZ1B_ENST00000597208.1_Intron|RSPH10B2_ENST00000463354.2_3'UTR|RSPH10B2_ENST00000359718.3_3'UTR|RSPH10B2_ENST00000433859.2_Missense_Mutation_p.T765M|RSPH10B2_ENST00000404077.1_Missense_Mutation_p.T765M|RSPH10B2_ENST00000297186.3_Missense_Mutation_p.T765M			B2RC85	R10B2_HUMAN	radial spoke head 10 homolog B2 (Chlamydomonas)	765				T -> M (in Ref. 1; BAG37482 and 3; AAH34495/AAI57865/AAI57872). {ECO:0000305}.						breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|skin(2)	15						GTCAATAATACGTACGTCTTC	0.433													.|||	1201	0.239816	0.18	0.2233	5008	,	,		10379	0.2639		0.1332	False		,,,				2504	0.4172															0													195	196	196					7																	6836259		1823	3749	5572	SO:0001583	missense	728194				CCDS43552.1	7p22.1	2008-07-04			ENSG00000169402	ENSG00000169402			34385	protein-coding gene	gene with protein product							Standard	NM_001099697		Approved		uc003sqw.1	B2RC85	OTTHUMG00000151856	ENST00000403107.1:c.2294C>T	7.37:g.6836259C>T	ENSP00000384766:p.Thr765Met		A6NMW7|B2RXI4|B2RXJ0|Q86ST9|Q8NE68	Missense_Mutation	SNP	ENST00000403107.1	37	CCDS43552.1	.	.	.	.	.	.	.	.	.	.	T	0.830	-0.745624	0.03065	.	.	ENSG00000169402	ENST00000403107;ENST00000404077;ENST00000297186;ENST00000433859	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	2.94	1.75	0.24633	.	1.687920	0.03443	N	0.209514	T	0.20292	0.0488	N	0.01576	-0.805	0.80722	P	0.0	B	0.09022	0.002	B	0.04013	0.001	T	0.19353	-1.0308	9	0.13108	T	0.6	.	5.0327	0.14419	0.0:0.2814:0.0:0.7186	.	765	B2RC85	R10B2_HUMAN	M	765	ENSP00000384766:T765M;ENSP00000386102:T765M;ENSP00000297186:T765M;ENSP00000416710:T765M	ENSP00000297186:T765M	T	+	2	0	RSPH10B2	6802784	0.257000	0.24022	0.001000	0.08648	0.058000	0.15608	1.923000	0.40055	-0.033000	0.13736	-1.381000	0.01174	ACG		0.433	RSPH10B2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324184.4	NM_001099697		T	6836259	C	T	6836259	3	4	726	1	0	0	0	0	1	0	0	0	13709	536	19	1	5053	1	RSPH10B	7	6836259	Missense_Mutation	SNP	C	TCGA-KN-8419-01A-11D-2310-10		6836259	152302404	15	40791											
DDC	1644	broad.mit.edu;mdanderson.org;bcgsc.ca	37	7	50596997	50596997	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr7:50596997C>T	ENST00000444124.2	-	5	679	c.479G>A	c.(478-480)cGg>cAg	p.R160Q	DDC_ENST00000489162.1_5'UTR|DDC_ENST00000380984.4_Missense_Mutation_p.R160Q|DDC_ENST00000426377.1_Missense_Mutation_p.R82Q|DDC_ENST00000357936.5_Missense_Mutation_p.R160Q|AC018705.5_ENST00000454521.1_RNA|DDC_ENST00000431062.1_Intron	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	160	2 X approximate tandem repeats.				catecholamine biosynthetic process (GO:0042423)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to growth factor stimulus (GO:0071363)|circadian rhythm (GO:0007623)|dopamine biosynthetic process (GO:0042416)|indolalkylamine biosynthetic process (GO:0046219)|isoquinoline alkaloid metabolic process (GO:0033076)|multicellular organismal aging (GO:0010259)|phytoalexin metabolic process (GO:0052314)|response to pyrethroid (GO:0046684)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)|synaptic vesicle amine transport (GO:0015842)	axon (GO:0030424)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|synaptic vesicle (GO:0008021)	amino acid binding (GO:0016597)|aromatic-L-amino-acid decarboxylase activity (GO:0004058)|enzyme binding (GO:0019899)|L-dopa decarboxylase activity (GO:0036468)|pyridoxal phosphate binding (GO:0030170)			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Cycloserine(DB00260)|Droxidopa(DB06262)|Flupentixol(DB00875)|L-DOPA(DB01235)|L-Tryptophan(DB00150)|Methyldopa(DB00968)	CACTTTGGTCCGAGCGGCCAG	0.557																																																0													53	53	53					7																	50596997		2203	4300	6503	SO:0001583	missense	1644				CCDS5511.1, CCDS56485.1, CCDS56486.1, CCDS56487.1, CCDS75598.1, CCDS75599.1	7p12.1	2012-08-30			ENSG00000132437	ENSG00000132437	4.1.1.28		2719	protein-coding gene	gene with protein product		107930				1612608	Standard	NM_001082971		Approved	AADC	uc003tpf.4	P20711	OTTHUMG00000023353	ENST00000444124.2:c.479G>A	7.37:g.50596997C>T	ENSP00000403644:p.Arg160Gln		C9IYA0|E7ER62|E7EU95|Q16723|Q5W5T9|Q75MJ6	Missense_Mutation	SNP	ENST00000444124.2	37	CCDS5511.1	.	.	.	.	.	.	.	.	.	.	C	33	5.194391	0.94960	.	.	ENSG00000132437	ENST00000357936;ENST00000426377;ENST00000444124;ENST00000380984	T;T;T;T	0.53640	0.61;0.61;0.61;0.61	5.15	5.15	0.70609	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.101870	0.64402	D	0.000005	T	0.80460	0.4627	H	0.97516	4.02	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87383	0.2358	10	0.87932	D	0	-1.2889	17.5599	0.87903	0.0:1.0:0.0:0.0	.	160	P20711	DDC_HUMAN	Q	160;82;160;160	ENSP00000350616:R160Q;ENSP00000395069:R82Q;ENSP00000403644:R160Q;ENSP00000370371:R160Q	ENSP00000350616:R160Q	R	-	2	0	DDC	50564491	1.000000	0.71417	0.997000	0.53966	0.688000	0.40055	6.680000	0.74518	2.673000	0.90976	0.655000	0.94253	CGG		0.557	DDC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342593.1			T	50596997	C	T	50596997	3	4	726	1	0	0	0	0	1	0	0	0	4327	652	23	1	1003	1	DDC	7	50596997	Missense_Mutation	SNP	C	TCGA-KN-8419-01A-11D-2310-10	43760738	50596997	108541666	16	40792											
MUC17	140453	mdanderson.org	37	7	100680117	100680117	+	Missense_Mutation	SNP	T	T	C	rs147353603	byFrequency	TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr7:100680117T>C	ENST00000306151.4	+	3	5484	c.5420T>C	c.(5419-5421)aTg>aCg	p.M1807T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1807	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)					AGTGAAGGAATGACTCCATTA	0.507													-|||	4	0.000798722	0.0008	0.0	5008	,	,		27011	0.003		0.0	False		,,,				2504	0.0															0													250	253	252					7																	100680117		2203	4300	6503	SO:0001583	missense	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.5420T>C	7.37:g.100680117T>C	ENSP00000302716:p.Met1807Thr		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	N	0.005	-2.166907	0.00318	.	.	ENSG00000169876	ENST00000306151	T	0.01854	4.6	0.373	-0.746	0.11095	.	.	.	.	.	T	0.00998	0.0033	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48670	-0.9015	8	0.09338	T	0.73	.	.	.	.	.	1807	Q685J3	MUC17_HUMAN	T	1807	ENSP00000302716:M1807T	ENSP00000302716:M1807T	M	+	2	0	MUC17	100466837	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.274000	0.00531	-4.523000	0.00044	-3.958000	0.00015	ATG		0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		C	100680117	T	C	100680117	3	2	726	1	0	0	0	0	1	0	0	0	9976	1464	51	3	5430	3	MUC17	7	100680117	Missense_Mutation	SNP	T	TCGA-KN-8419-01A-11D-2310-10	50083120	100680117	58458546	17	40793	365	2									
MUC17	140453	mdanderson.org	37	7	100680120	100680120	+	Missense_Mutation	SNP	C	C	A	rs147991653	byFrequency	TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr7:100680120C>A	ENST00000306151.4	+	3	5487	c.5423C>A	c.(5422-5424)aCt>aAt	p.T1808N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1808	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.T1808N(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)					GAAGGAATGACTCCATTAACA	0.512													-|||	4	0.000798722	0.0008	0.0	5008	,	,		25905	0.003		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	skin(1)											246	249	248					7																	100680120		2203	4300	6503	SO:0001583	missense	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.5423C>A	7.37:g.100680120C>A	ENSP00000302716:p.Thr1808Asn		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	76	0.0347985347985348	28	0.056910569105691054	21	0.058011049723756904	12	0.02097902097902098	15	0.01978891820580475	c	0.142	-1.100945	0.01843	.	.	ENSG00000169876	ENST00000306151	T	0.02177	4.41	0.471	-0.615	0.11587	.	.	.	.	.	T	0.00210	0.0006	N	0.19112	0.55	0.09310	N	1	D	0.58620	0.983	B	0.40677	0.337	T	0.51988	-0.8635	8	0.32370	T	0.25	.	.	.	.	.	1808	Q685J3	MUC17_HUMAN	N	1808	ENSP00000302716:T1808N	ENSP00000302716:T1808N	T	+	2	0	MUC17	100466840	0.003000	0.15002	0.000000	0.03702	0.000000	0.00434	0.305000	0.19254	-0.243000	0.09653	-1.404000	0.01136	ACT		0.512	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		A	100680120	C	A	100680120	3	1	726	1	0	0	0	0	1	0	0	0	9976	565	20	4	5433	4	MUC17	7	100680120	Missense_Mutation	SNP	C	TCGA-KN-8419-01A-11D-2310-10	3	100680120	58458543	18	40794	365	2									
GIMAP8	155038	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	7	150171183	150171183	+	Missense_Mutation	SNP	C	C	T	rs576578780		TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr7:150171183C>T	ENST00000307271.3	+	4	1340	c.766C>T	c.(766-768)Cgc>Tgc	p.R256C		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	256	AIG1-type G 2.					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)		TGTGGGGAAACGCGGTGCTGG	0.557													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17518	0.0		0.0	False		,,,				2504	0.0															0													89	89	89					7																	150171183		2203	4300	6503	SO:0001583	missense	155038			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.766C>T	7.37:g.150171183C>T	ENSP00000305107:p.Arg256Cys			Missense_Mutation	SNP	ENST00000307271.3	37	CCDS34777.1	.	.	.	.	.	.	.	.	.	.	C	12.78	2.040312	0.35989	.	.	ENSG00000171115	ENST00000307271	T	0.61392	0.11	4.47	3.56	0.40772	AIG1 (1);	0.309039	0.23636	N	0.046066	T	0.74574	0.3734	M	0.82630	2.6	0.19300	N	0.999978	D	0.89917	1.0	D	0.91635	0.999	T	0.65162	-0.6235	10	0.72032	D	0.01	.	9.4363	0.38641	0.2119:0.7881:0.0:0.0	.	256	Q8ND71	GIMA8_HUMAN	C	256	ENSP00000305107:R256C	ENSP00000305107:R256C	R	+	1	0	GIMAP8	149802116	0.005000	0.15991	0.231000	0.23993	0.139000	0.21198	0.617000	0.24359	1.074000	0.40909	0.650000	0.86243	CGC		0.557	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350701.1	NM_175571		T	150171183	C	T	150171183	3	4	726	1	0	0	0	0	1	0	0	0	6387	536	19	1	776	1	GIMAP8	7	150171183	Missense_Mutation	SNP	C	TCGA-KN-8419-01A-11D-2310-10	49491063	150171183	8967480	19	40795											
EN2	2020	hgsc.bcm.edu	37	7	155251201	155251201	+	Silent	SNP	G	G	A			TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr7:155251201G>A	ENST00000297375.4	+	1	378	c.129G>A	c.(127-129)ggG>ggA	p.G43G	AC008060.8_ENST00000419225.1_lincRNA	NM_001427.3	NP_001418.2	P19622	HME2_HUMAN	engrailed homeobox 2	43					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)		CGGACACCGGGCGCCGGCGGG	0.746																																																0													3	3	3					7																	155251201		1605	3163	4768	SO:0001819	synonymous_variant	2020				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.129G>A	7.37:g.155251201G>A			A4D252|Q549U3|Q9UD58	Silent	SNP	ENST00000297375.4	37	CCDS5940.1																																																																																				0.746	EN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322337.1	NM_001427		A	155251201	G	A	155251201	2	1	726	1	0	0	0	0	0	0	0	1	5112	1190	42	2		2	EN2	7	155251201	Silent	SNP	G	TCGA-KN-8419-01A-11D-2310-10	5080018	155251201	3887462	20	40796											
AMAC1L2	83650	mdanderson.org	37	8	11189604	11189604	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr8:11189604G>T	ENST00000382435.4	+	1	1208	c.989G>T	c.(988-990)tGt>tTt	p.C330F		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	330						integral component of membrane (GO:0016021)											AACCTCAGCTGTGAGAGGACA	0.507																																																0													65	66	66					8																	11189604		2203	4300	6503	SO:0001583	missense	83650			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.989G>T	8.37:g.11189604G>T	ENSP00000371872:p.Cys330Phe		A2RRL6	Missense_Mutation	SNP	ENST00000382435.4	37	CCDS5980.1	.	.	.	.	.	.	.	.	.	.	g	1.779	-0.482469	0.04383	.	.	ENSG00000177710	ENST00000382435	T	0.26957	1.7	.	.	.	.	0.000000	0.48767	D	0.000176	T	0.14787	0.0357	L	0.44542	1.39	0.32802	D	0.500314	B	0.06786	0.001	B	0.04013	0.001	T	0.41963	-0.9479	8	0.02654	T	1	-4.1531	.	.	.	.	330	Q96KT7	S35G5_HUMAN	F	330	ENSP00000371872:C330F	ENSP00000371872:C330F	C	+	2	0	SLC35G5	11227014	0.285000	0.24296	0.299000	0.25016	0.299000	0.27559	1.275000	0.33144	0.064000	0.16427	0.064000	0.15345	TGT		0.507	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207313.2	NM_054028		T	11189604	G	T	11189604	3	4	726	1	0	0	0	0	1	0	0	0	560	1377	48	4	991	4	AMAC1L2	8	11189604	Missense_Mutation	SNP	G	TCGA-KN-8419-01A-11D-2310-10		11189604	135174418	21	40797			1	86		2	2	13	G		2.48085e-05
AMAC1L2	83650	mdanderson.org	37	8	11189616	11189616	+	Missense_Mutation	SNP	G	G	A	rs200495954		TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr8:11189616G>A	ENST00000382435.4	+	1	1220	c.1001G>A	c.(1000-1002)gGg>gAg	p.G334E		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	334						integral component of membrane (GO:0016021)											GAGAGGACAGGGAAGGTGGAG	0.498																																																0													55	58	57					8																	11189616		2203	4300	6503	SO:0001583	missense	83650			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.1001G>A	8.37:g.11189616G>A	ENSP00000371872:p.Gly334Glu		A2RRL6	Missense_Mutation	SNP	ENST00000382435.4	37	CCDS5980.1	.	.	.	.	.	.	.	.	.	.	g	5.777	0.327688	0.10956	.	.	ENSG00000177710	ENST00000382435	T	0.38560	1.13	.	.	.	.	0.350088	0.20838	N	0.084754	T	0.26484	0.0647	L	0.50333	1.59	0.28172	N	0.928524	B	0.06786	0.001	B	0.04013	0.001	T	0.35574	-0.9783	8	0.02654	T	1	-1.4658	.	.	.	.	334	Q96KT7	S35G5_HUMAN	E	334	ENSP00000371872:G334E	ENSP00000371872:G334E	G	+	2	0	SLC35G5	11227026	0.086000	0.21541	0.277000	0.24703	0.278000	0.26855	-0.233000	0.09041	0.064000	0.16427	0.064000	0.15345	GGG		0.498	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207313.2	NM_054028		A	11189616	G	A	11189616	3	1	726	1	0	0	0	0	1	0	0	0	560	1232	43	2	1003	2	AMAC1L2	8	11189616	Missense_Mutation	SNP	G	TCGA-KN-8419-01A-11D-2310-10	12	11189616	135174406	22	40798			1	86		2	2	13	G		2.48085e-05
TNFRSF10C	8794	broad.mit.edu	37	8	22974315	22974315	+	Missense_Mutation	SNP	A	A	C	rs61736405		TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr8:22974315A>C	ENST00000356864.3	+	5	1083	c.551A>C	c.(550-552)aAc>aCc	p.N184T	TNFRSF10C_ENST00000540813.1_Missense_Mutation_p.N82T	NM_003841.3	NP_003832	O14798	TR10C_HUMAN	tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain	184					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)	p.N184T(1)		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)		GAGACAATGAACACCAGCCCG	0.602																																																1	Substitution - Missense(1)	skin(1)											68	80	76					8																	22974315		2203	4297	6500	SO:0001583	missense	8794			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.551A>C	8.37:g.22974315A>C	ENSP00000349324:p.Asn184Thr		O14755|Q08AS6|Q6FH98|Q6UXM5	Missense_Mutation	SNP	ENST00000356864.3	37	CCDS6037.1	.	.	.	.	.	.	.	.	.	.	A	1.881	-0.457883	0.04508	.	.	ENSG00000173535	ENST00000356864;ENST00000540813;ENST00000544885	T;T	0.62788	0.0;1.25	.	.	.	.	0.568776	0.17737	U	0.163718	T	0.28400	0.0702	N	0.03608	-0.345	0.22213	N	0.999289	P	0.38110	0.618	B	0.33690	0.168	T	0.14924	-1.0455	9	0.37606	T	0.19	.	2.8413	0.05530	0.5024:0.497:2.0E-4:3.0E-4	rs61736405	184	O14798	TR10C_HUMAN	T	184;82;184	ENSP00000349324:N184T;ENSP00000437612:N82T	ENSP00000349324:N184T	N	+	2	0	TNFRSF10C	23030260	0.001000	0.12720	0.054000	0.19295	0.104000	0.19210	0.918000	0.28678	0.077000	0.16863	0.076000	0.15429	AAC		0.602	TNFRSF10C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215134.3			C	22974315	A	C	22974315	3	2	726	1	0	0	0	0	1	0	0	0	16287	43	2	5	569	5	TNFRSF10C	8	22974315	Missense_Mutation	SNP	A	TCGA-KN-8419-01A-11D-2310-10	11784699	22974315	123389707	23	40799											
DENND3	22898	broad.mit.edu	37	8	142175380	142175380	+	Silent	SNP	G	G	A			TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr8:142175380G>A	ENST00000262585.2	+	11	1583	c.1305G>A	c.(1303-1305)gaG>gaA	p.E435E	DENND3_ENST00000424248.1_Silent_p.E383E|DENND3_ENST00000519811.1_Silent_p.E515E	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	435					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)			CCCAGTCGGAGGAGGACAGGT	0.468																																																0													137	136	136					8																	142175380		2203	4300	6503	SO:0001819	synonymous_variant	22898			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.1305G>A	8.37:g.142175380G>A			B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Silent	SNP	ENST00000262585.2	37	CCDS34947.1	.	.	.	.	.	.	.	.	.	.	G	2.980	-0.210423	0.06140	.	.	ENSG00000105339	ENST00000518668	.	.	.	5.42	-6.03	0.02185	.	.	.	.	.	T	0.54631	0.1870	.	.	.	0.44702	D	0.997698	.	.	.	.	.	.	T	0.58086	-0.7698	4	.	.	.	-28.1093	12.2339	0.54503	0.7261:0.0996:0.1743:0.0	.	.	.	.	R	440	.	.	G	+	1	0	DENND3	142244562	0.927000	0.31430	0.025000	0.17156	0.514000	0.34195	0.069000	0.14552	-1.210000	0.02627	-0.258000	0.10820	GGA		0.468	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014957		A	142175380	G	A	142175380	2	1	726	1	0	0	0	0	0	0	0	1	4434	991	35	2		2	DENND3	8	142175380	Silent	SNP	G	TCGA-KN-8419-01A-11D-2310-10	119201065	142175380	4188642	24	40800											
SLC45A4	57210	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	8	142221657	142221657	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr8:142221657G>A	ENST00000024061.3	-	8	2588	c.2281C>T	c.(2281-2283)Ctt>Ttt	p.L761F	SLC45A4_ENST00000519067.1_3'UTR|SLC45A4_ENST00000433583.2_3'UTR|SLC45A4_ENST00000517878.1_3'UTR	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)			AGGAAAAGAAGATACGTCATT	0.493																																																0													83	95	91					8																	142221657		2203	4300	6503	SO:0001583	missense	57210			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.2281C>T	8.37:g.142221657G>A	ENSP00000024061:p.Leu761Phe		Q6ZRI2|Q9ULU3	Missense_Mutation	SNP	ENST00000024061.3	37	CCDS34948.1	.	.	.	.	.	.	.	.	.	.	G	8.015	0.758385	0.15846	.	.	ENSG00000022567	ENST00000024061	T	0.18338	2.22	3.9	0.867	0.19085	.	.	.	.	.	T	0.10380	0.0254	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.34825	-0.9813	8	0.87932	D	0	.	1.1891	0.01861	0.2061:0.2557:0.3799:0.1582	.	761	Q5BKX6-3	.	F	761	ENSP00000024061:L761F	ENSP00000024061:L761F	L	-	1	0	SLC45A4	142290839	0.007000	0.16637	0.001000	0.08648	0.070000	0.16714	0.710000	0.25748	0.435000	0.26365	0.655000	0.94253	CTT		0.493	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	XM_050325		A	142221657	G	A	142221657	3	1	726	1	0	0	0	0	1	0	0	0	14649	942	33	2	119	2	SLC45A4	8	142221657	Missense_Mutation	SNP	G	TCGA-KN-8419-01A-11D-2310-10	46277	142221657	4142365	25	40801											
AQP7	364	mdanderson.org	37	9	33385786	33385786	+	Missense_Mutation	SNP	C	C	G	rs76908057		TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr9:33385786C>G	ENST00000537089.1	-	6	646	c.328G>C	c.(328-330)Gag>Cag	p.E110Q	AQP7_ENST00000377425.4_Missense_Mutation_p.E145Q|AQP7_ENST00000539936.1_Missense_Mutation_p.E202Q|AQP7_ENST00000541274.1_Missense_Mutation_p.R70T			O14520	AQP7_HUMAN	aquaporin 7	202					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)		ACCAGCGCCTCTGTTCCTGGC	0.617																																																0													112	100	104					9																	33385786		2203	4300	6503	SO:0001583	missense	364			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.328G>C	9.37:g.33385786C>G	ENSP00000441619:p.Glu110Gln		Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000537089.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	3.965|3.965	-0.009525|-0.009525	0.07727|0.07727	.|.	.|.	ENSG00000165269|ENSG00000165269	ENST00000537089;ENST00000379507;ENST00000447660;ENST00000297988;ENST00000377425;ENST00000439678;ENST00000379506;ENST00000539936;ENST00000379503|ENST00000541274	D;D;D;D;D;D;D;D;D|T	0.85171|0.51325	-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95|0.71	5.02|5.02	3.11|3.11	0.35812|0.35812	Aquaporin-like (2);|.	0.285780|.	0.38326|.	N|.	0.001735|.	T|T	0.23688|0.23688	0.0573|0.0573	N|N	0.01817|0.01817	-0.705|-0.705	0.40946|0.40946	P|P	0.015494000000000008|0.015494000000000008	B;B;B;B|B	0.06786|0.02656	0.0;0.0;0.001;0.001|0.0	B;B;B;B|B	0.12837|0.01281	0.001;0.001;0.004;0.008|0.0	T|T	0.10109|0.10109	-1.0644|-1.0644	9|8	0.26408|0.32370	T|T	0.33|0.25	-2.4877|-2.4877	14.8905|14.8905	0.70606|0.70606	0.0:0.6125:0.3875:0.0|0.0:0.6125:0.3875:0.0	.|.	201;202;145;202|70	Q5T5M0;B7Z4U2;Q6P5T0;O14520|B7Z7F6	.;.;.;AQP7_HUMAN|.	Q|T	110;201;70;202;145;110;201;202;138|70	ENSP00000441619:E110Q;ENSP00000368821:E201Q;ENSP00000412868:E70Q;ENSP00000297988:E202Q;ENSP00000396111:E145Q;ENSP00000410138:E110Q;ENSP00000368820:E201Q;ENSP00000439534:E202Q;ENSP00000368817:E138Q|ENSP00000438860:R70T	ENSP00000297988:E202Q|ENSP00000438860:R70T	E|R	-|-	1|2	0|0	AQP7|AQP7	33375786|33375786	0.056000|0.056000	0.20664|0.20664	0.962000|0.962000	0.40283|0.40283	0.164000|0.164000	0.22412|0.22412	0.682000|0.682000	0.25335|0.25335	0.263000|0.263000	0.21812|0.21812	-0.139000|-0.139000	0.14373|0.14373	GAG|AGA		0.617	AQP7-202	KNOWN	basic	protein_coding	protein_coding		NM_001170		G	33385786	C	G	33385786	3	3	726	1	0	0	0	0	1	0	0	0	831	922	32	4	432	4	AQP7	9	33385786	Missense_Mutation	SNP	C	TCGA-KN-8419-01A-11D-2310-10		33385786	107827645	26	40802											
TMEM2	23670	ucsc.edu;bcgsc.ca	37	9	74300250	74300250	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr9:74300250T>C	ENST00000377044.4	-	24	4554	c.4015A>G	c.(4015-4017)Acc>Gcc	p.T1339A	TMEM2_ENST00000377066.5_Missense_Mutation_p.T1276A|TMEM2_ENST00000396272.3_Missense_Mutation_p.T332A	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	1339					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)		GCAGGACTGGTAAATAGCTTA	0.398																																																0													83	77	79					9																	74300250		2203	4300	6503	SO:0001583	missense	23670				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.4015A>G	9.37:g.74300250T>C	ENSP00000366243:p.Thr1339Ala		A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	ENST00000377044.4	37	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	T	12.48	1.950605	0.34377	.	.	ENSG00000135048	ENST00000377044;ENST00000377066;ENST00000396272	T;T;T	0.74632	-0.86;-0.78;2.32	5.53	4.38	0.52667	.	0.226336	0.43919	D	0.000502	T	0.64204	0.2577	L	0.33485	1.01	0.48632	D	0.999688	B;B	0.18968	0.019;0.032	B;B	0.23275	0.02;0.045	T	0.64007	-0.6508	10	0.56958	D	0.05	.	11.5812	0.50891	0.0:0.071:0.0:0.929	.	1339;1276	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	A	1339;1276;332	ENSP00000366243:T1339A;ENSP00000366266:T1276A;ENSP00000379569:T332A	ENSP00000366243:T1339A	T	-	1	0	TMEM2	73490070	1.000000	0.71417	0.953000	0.39169	0.996000	0.88848	4.180000	0.58296	2.103000	0.63969	0.454000	0.30748	ACC		0.398	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390		C	74300250	T	C	74300250	3	2	726	1	0	0	0	0	1	0	0	0	16126	1638	57	3	140	3	TMEM2	9	74300250	Missense_Mutation	SNP	T	TCGA-KN-8419-01A-11D-2310-10	40914464	74300250	66913181	27	40803											
SLC46A2	57864	bcgsc.ca	37	9	115652859	115652859	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr9:115652859G>A	ENST00000374228.4	-	1	334	c.103C>T	c.(103-105)Ctc>Ttc	p.L35F		NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	35					negative regulation of T cell apoptotic process (GO:0070233)|regulation of T cell differentiation (GO:0045580)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						GCATCGTAGAGGGAGGCAGCC	0.701																																																0													45	47	46					9																	115652859		2203	4300	6503	SO:0001583	missense	57864			AF242557	CCDS6786.1	9q32	2013-05-22	2007-03-29	2007-03-29	ENSG00000119457	ENSG00000119457		"Solute carriers"	16055	protein-coding gene	gene with protein product		608956	"thymic stromal co-transporter"	TSCOT		10978518, 12826694	Standard	NM_033051		Approved	Ly110	uc004bgk.3	Q9BY10	OTTHUMG00000020513	ENST00000374228.4:c.103C>T	9.37:g.115652859G>A	ENSP00000363345:p.Leu35Phe		B1ALK1|Q86VT0|Q96NE2	Missense_Mutation	SNP	ENST00000374228.4	37	CCDS6786.1	.	.	.	.	.	.	.	.	.	.	G	7.339	0.620583	0.14193	.	.	ENSG00000119457	ENST00000374228	T	0.52754	0.65	5.11	3.0	0.34707	.	0.224065	0.45606	D	0.000352	T	0.23330	0.0564	N	0.12182	0.205	0.32707	N	0.512117	B	0.14012	0.009	B	0.10450	0.005	T	0.12682	-1.0538	10	0.23302	T	0.38	-16.569	4.2995	0.10918	0.4949:0.0:0.5051:0.0	.	35	Q9BY10	TSCOT_HUMAN	F	35	ENSP00000363345:L35F	ENSP00000363345:L35F	L	-	1	0	SLC46A2	114692680	1.000000	0.71417	0.983000	0.44433	0.892000	0.51952	3.606000	0.54095	1.145000	0.42336	0.650000	0.86243	CTC		0.701	SLC46A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053702.1	NM_033051		A	115652859	G	A	115652859	3	1	726	1	0	0	0	0	1	0	0	0	14651	1000	35	2	1340	2	SLC46A2	9	115652859	Missense_Mutation	SNP	G	TCGA-KN-8419-01A-11D-2310-10	41352609	115652859	25560572	28	40804											
ZBTB34	403341	ucsc.edu	37	9	129642226	129642226	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr9:129642226A>G	ENST00000373452.2	+	1	600	c.536A>G	c.(535-537)gAc>gGc	p.D179G	ZBTB34_ENST00000319119.4_Missense_Mutation_p.D183G			Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	179					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						GCAAGCAGTGACCTCCGGATG	0.587																																																0													48	53	52					9																	129642226		1979	4155	6134	SO:0001583	missense	403341			DQ227306	CCDS48023.1	9q33.3	2013-01-08			ENSG00000177125	ENSG00000177125		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	31446	protein-coding gene	gene with protein product		611692				16718364	Standard	NM_001099270		Approved	KIAA1993, MGC24652, ZNF918	uc004bqm.4	Q8NCN2	OTTHUMG00000020694	ENST00000373452.2:c.536A>G	9.37:g.129642226A>G	ENSP00000362551:p.Asp179Gly		Q38IA7|Q5VYE9	Missense_Mutation	SNP	ENST00000373452.2	37	CCDS48023.1	.	.	.	.	.	.	.	.	.	.	A	18.94	3.728981	0.69074	.	.	ENSG00000177125	ENST00000319119;ENST00000373452	T;T	0.13420	2.59;2.61	5.54	5.54	0.83059	.	0.105167	0.64402	D	0.000006	T	0.10680	0.0261	N	0.24115	0.695	0.58432	D	0.999997	B	0.20780	0.048	B	0.20384	0.029	T	0.19224	-1.0312	10	0.16896	T	0.51	.	15.9596	0.79918	1.0:0.0:0.0:0.0	.	179	Q8NCN2	ZBT34_HUMAN	G	183;179	ENSP00000317534:D183G;ENSP00000362551:D179G	ENSP00000317534:D183G	D	+	2	0	ZBTB34	128682047	1.000000	0.71417	0.258000	0.24420	0.704000	0.40688	8.601000	0.90864	2.220000	0.72140	0.533000	0.62120	GAC		0.587	ZBTB34-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001099270		G	129642226	A	G	129642226	3	3	726	1	0	0	0	0	1	0	0	0	17542	275	10	3	538	3	ZBTB34	9	129642226	Missense_Mutation	SNP	A	TCGA-KN-8419-01A-11D-2310-10	13989367	129642226	11571205	29	40805											
TUBB8	347688	mdanderson.org	37	10	93778	93778	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr10:93778G>A	ENST00000309812.4	-	4	616	c.554C>T	c.(553-555)gCc>gTc	p.A185V	TUBB8_ENST00000332708.5_3'UTR|TUBB8_ENST00000413237.3_5'UTR|TUBB8_ENST00000447903.2_Missense_Mutation_p.A113V	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	185					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)		TGAGAGGGTGGCGTTGTAGGG	0.517																																					Pancreas(192;2041 3010 9013 18103)											0													109	99	102					10																	93778		2203	4296	6499	SO:0001583	missense	347688			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.554C>T	10.37:g.93778G>A	ENSP00000311042:p.Ala185Val		Q5SQX9|Q8WZ78	Missense_Mutation	SNP	ENST00000309812.4	37	CCDS7051.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.641506	0.47153	.	.	ENSG00000173876	ENST00000447903;ENST00000272035;ENST00000440680;ENST00000328974	T	0.77358	-1.09	.	.	.	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.56097	U	0.000022	D	0.87470	0.6185	M	0.92459	3.31	0.36968	D	0.893686	D;D	0.76494	0.997;0.999	D;D	0.75020	0.983;0.985	D	0.86042	0.1520	9	0.87932	D	0	.	5.9051	0.18992	8.0E-4:0.0:0.9992:0.0	.	148;185	C9JAA5;Q3ZCM7	.;TBB8_HUMAN	V	113;151;148;185	ENSP00000403895:A113V	ENSP00000272035:A151V	A	-	2	0	RP11-631M21.2	83778	1.000000	0.71417	0.341000	0.25589	0.344000	0.29017	6.543000	0.73874	0.119000	0.18210	0.121000	0.15741	GCC		0.517	TUBB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467795.1	NM_177987		A	93778	G	A	93778	3	1	726	1	0	0	0	0	1	0	0	0	16766	1203	42	2	784	2	TUBB8	10	93778	Missense_Mutation	SNP	G	TCGA-KN-8419-01A-11D-2310-10		93778	135440969	30	40806											
FRG2B	441581	mdanderson.org	37	10	135439077	135439077	+	Silent	SNP	T	T	C	rs201483744		TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr10:135439077T>C	ENST00000425520.1	-	4	415	c.363A>G	c.(361-363)tcA>tcG	p.S121S	FRG2B_ENST00000443774.1_Silent_p.S122S	NM_001080998.1	NP_001074467.1	Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	121						nucleus (GO:0005634)		p.S122S(1)		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)		TTTTATTCAATGACAAGCTGC	0.517																																																1	Substitution - coding silent(1)	kidney(1)											33	40	37					10																	135439077		2128	4248	6376	SO:0001819	synonymous_variant	441581			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.363A>G	10.37:g.135439077T>C			Q5VSQ1	Silent	SNP	ENST00000425520.1	37	CCDS44502.1																																																																																				0.517	FRG2B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467780.1	NM_001080998		C	135439077	T	C	135439077	2	2	726	1	0	0	0	0	0	0	0	1	6049	1451	51	3		3	FRG2B	10	135439077	Silent	SNP	T	TCGA-KN-8419-01A-11D-2310-10	135345299	135439077	95670	31	40807											
TRIM48	79097	mdanderson.org	37	11	55032663	55032663	+	Missense_Mutation	SNP	T	T	C	rs200778682	byFrequency	TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr11:55032663T>C	ENST00000417545.2	+	2	418	c.332T>C	c.(331-333)aTt>aCt	p.I111T		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	95						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						ATGTGTGGCATTCACAGGGAG	0.498																																																0													98	90	93					11																	55032663		2188	4256	6444	SO:0001583	missense	79097			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.332T>C	11.37:g.55032663T>C	ENSP00000402414:p.Ile111Thr		Q9BUW4	Missense_Mutation	SNP	ENST00000417545.2	37	CCDS7947.2	.	.	.	.	.	.	.	.	.	.	c	0	-2.612529	0.00120	.	.	ENSG00000150244	ENST00000417545	T	0.40476	1.03	0.596	0.596	0.17496	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, B-box (3);	.	.	.	.	T	0.13114	0.0318	N	0.03324	-0.35	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.28038	-1.0056	9	0.02654	T	1	.	1.7225	0.02915	0.3221:0.4182:0.0:0.2597	.	95	Q8IWZ4	TRI48_HUMAN	T	111	ENSP00000402414:I111T	ENSP00000402414:I111T	I	+	2	0	TRIM48	54789239	0.000000	0.05858	0.154000	0.22540	0.130000	0.20726	-4.117000	0.00292	-0.174000	0.10743	-1.141000	0.01876	ATT		0.498	TRIM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347088.1			C	55032663	T	C	55032663	3	2	726	1	0	0	0	0	1	0	0	0	16528	1493	52	3	338	3	TRIM48	11	55032663	Missense_Mutation	SNP	T	TCGA-KN-8419-01A-11D-2310-10		55032663	79973853	32	40808											
NAA40	79829	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	11	63719920	63719920	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr11:63719920G>A	ENST00000377793.4	+	5	394	c.293G>A	c.(292-294)cGg>cAg	p.R98Q	NAA40_ENST00000456907.2_Missense_Mutation_p.R58Q|NAA40_ENST00000539656.1_Intron|NAA40_ENST00000536939.1_3'UTR|NAA40_ENST00000542163.1_Missense_Mutation_p.R77Q	NM_024771.2	NP_079047.2	Q86UY6	NAA40_HUMAN	N(alpha)-acetyltransferase 40, NatD catalytic subunit	98	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				lipid metabolic process (GO:0006629)		N-acetyltransferase activity (GO:0008080)			NS(1)|endometrium(1)|lung(2)|prostate(1)	5						CGAGAGAAACGGGAGGAAATG	0.577																																																0													178	164	169					11																	63719920		2201	4297	6498	SO:0001583	missense	79829			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.293G>A	11.37:g.63719920G>A	ENSP00000367024:p.Arg98Gln		B4DR03|B4DU10|Q5HYL5|Q9H897	Missense_Mutation	SNP	ENST00000377793.4	37	CCDS8053.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.491315	0.84962	.	.	ENSG00000110583	ENST00000377793;ENST00000456907;ENST00000542163	T;T;T	0.44482	0.92;0.92;0.92	5.72	4.8	0.61643	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);	0.051476	0.64402	D	0.000001	T	0.40645	0.1125	N	0.26092	0.79	0.80722	D	1	B;D	0.69078	0.019;0.997	B;P	0.53062	0.003;0.717	T	0.05818	-1.0862	10	0.26408	T	0.33	-0.0172	13.9782	0.64285	0.0754:0.0:0.9245:0.0	.	58;98	B4DU10;Q86UY6	.;NAA40_HUMAN	Q	98;58;77	ENSP00000367024:R98Q;ENSP00000407578:R58Q;ENSP00000442055:R77Q	ENSP00000367024:R98Q	R	+	2	0	NAA40	63476496	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.585000	0.67497	2.692000	0.91855	0.555000	0.69702	CGG		0.577	NAA40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396266.1	NM_024771		A	63719920	G	A	63719920	3	1	726	1	0	0	0	0	1	0	0	0	10127	1116	39	1	311	1	NAA40	11	63719920	Missense_Mutation	SNP	G	TCGA-KN-8419-01A-11D-2310-10	8687257	63719920	71286596	33	40809											
KRT84	3890	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	12	52777475	52777475	+	Silent	SNP	G	G	A			TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr12:52777475G>A	ENST00000257951.3	-	2	720	c.654C>T	c.(652-654)atC>atT	p.I218I	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	218	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)		GCAGGTTGGTGATGTAGCTCT	0.547																																																0													77	73	74					12																	52777475		2203	4300	6503	SO:0001819	synonymous_variant	3890			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.654C>T	12.37:g.52777475G>A			B2RA43|Q6ISB0|Q701L6	Silent	SNP	ENST00000257951.3	37	CCDS8825.1																																																																																				0.547	KRT84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405187.1	NM_033045		A	52777475	G	A	52777475	2	1	726	1	0	0	0	0	0	0	0	1	8500	1280	45	2		2	KRT84	12	52777475	Silent	SNP	G	TCGA-KN-8419-01A-11D-2310-10		52777475	81074420	34	40810											
IRAK3	11213	bcgsc.ca	37	12	66597673	66597673	+	Splice_Site	SNP	G	G	T			TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr12:66597673G>T	ENST00000261233.4	+	2	737	c.316G>T	c.(316-318)Gga>Tga	p.G106*	IRAK3_ENST00000457197.2_Intron	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)		TACAAACTATGGTAAATGCTG	0.378																																																0													104	104	104					12																	66597673		2203	4300	6503	SO:0001630	splice_region_variant	11213			AF113136	CCDS8975.1, CCDS44937.1	12q13.13	2008-05-02			ENSG00000090376	ENSG00000090376			17020	protein-coding gene	gene with protein product		604459				10383454	Standard	NM_001142523		Approved	IRAK-M	uc001sth.3	Q9Y616	OTTHUMG00000169002	ENST00000261233.4:c.316+1G>T	12.37:g.66597673G>T				Nonsense_Mutation	SNP	ENST00000261233.4	37	CCDS8975.1	.	.	.	.	.	.	.	.	.	.	G	37	6.621589	0.97714	.	.	ENSG00000090376	ENST00000261233	.	.	.	5.93	5.93	0.95920	.	0.067824	0.56097	D	0.000026	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-22.5857	15.8335	0.78778	0.0:0.0:1.0:0.0	.	.	.	.	X	106	.	.	G	+	1	0	IRAK3	64883940	1.000000	0.71417	0.969000	0.41365	0.031000	0.12232	4.823000	0.62694	2.818000	0.97014	0.591000	0.81541	GGA		0.378	IRAK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401908.1		Nonsense_Mutation	T	66597673	G	T	66597673	5	4	726	1	0	0	0	0	0	0	1	0	7826	1362	47	4	322	4	IRAK3	12	66597673	Splice_Site	SNP	G	TCGA-KN-8419-01A-11D-2310-10	13820198	66597673	67254222	35	40811											
SELPLG	6404	hgsc.bcm.edu	37	12	109017489	109017489	+	Missense_Mutation	SNP	T	T	G	rs559346809	byFrequency	TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr12:109017489T>G	ENST00000550948.1	-	2	819	c.595A>C	c.(595-597)Atg>Ctg	p.M199L	SELPLG_ENST00000228463.6_Missense_Mutation_p.M215L|SELPLG_ENST00000388962.3_Missense_Mutation_p.M189L			Q14242	SELPL_HUMAN	selectin P ligand	199	12 X 10 AA tandem repeats.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to interleukin-6 (GO:0071354)|leukocyte adhesive activation (GO:0050902)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						TGTGCCTCCATGGCTGCTGGT	0.617													T|||	11	0.00219649	0.0076	0.0	5008	,	,		18945	0.0		0.0	False		,,,				2504	0.001															0													163	141	148					12																	109017489		2203	4300	6503	SO:0001583	missense	6404				CCDS31895.1, CCDS31895.2, CCDS55881.1	12q24	2014-01-30						"CD molecules", "Endogenous ligands"	10722	protein-coding gene	gene with protein product		600738				7505206	Standard	NM_003006		Approved	PSGL-1, CD162	uc010sxe.2	Q14242		ENST00000550948.1:c.595A>C	12.37:g.109017489T>G	ENSP00000447752:p.Met199Leu		A8K2Y0|B4DQC3|B7Z5C7|J3KMX6|Q12775|Q6GTW7|Q8N7J7	Missense_Mutation	SNP	ENST00000550948.1	37	CCDS31895.2	.	.	.	.	.	.	.	.	.	.	T	6.805	0.517561	0.13005	.	.	ENSG00000110876	ENST00000388962;ENST00000550948;ENST00000228463	T;T;T	0.13538	2.58;2.58;2.58	3.31	2.09	0.27110	.	0.862879	0.09676	N	0.770477	T	0.11281	0.0275	L	0.38175	1.15	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	0.29761	-1.0001	10	0.66056	D	0.02	-6.6031	5.9197	0.19076	0.2255:0.0:0.1387:0.6358	.	215;199;159	B7Z5C7;Q14242;B4DHR9	.;SELPL_HUMAN;.	L	189;199;215	ENSP00000373614:M189L;ENSP00000447752:M199L;ENSP00000228463:M215L	ENSP00000228463:M215L	M	-	1	0	SELPLG	107541618	0.002000	0.14202	0.004000	0.12327	0.004000	0.04260	0.391000	0.20784	0.599000	0.29845	0.402000	0.26972	ATG		0.617	SELPLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403904.1			G	109017489	T	G	109017489	3	3	726	1	0	0	0	0	1	0	0	0	14026	1464	51	5	647	5	SELPLG	12	109017489	Missense_Mutation	SNP	T	TCGA-KN-8419-01A-11D-2310-10	42419816	109017489	24834406	36	40812											
OASL	8638	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	121471492	121471492	+	Missense_Mutation	SNP	C	C	A			TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr12:121471492C>A	ENST00000257570.5	-	2	523	c.253G>T	c.(253-255)Gtg>Ttg	p.V85L	OASL_ENST00000339275.5_Missense_Mutation_p.V85L	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	85					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|transferase activity (GO:0016740)			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGAAACGCCACCAGCTCCACC	0.577																																					Colon(192;517 2041 31392 31913 39966)											0													108	108	108					12																	121471492		2203	4300	6503	SO:0001583	missense	8638			AF063611	CCDS9211.1, CCDS9212.1, CCDS73536.1	12q24.2	2008-08-05			ENSG00000135114	ENSG00000135114			8090	protein-coding gene	gene with protein product		603281				10087211	Standard	NM_003733		Approved	TRIP14, p59OASL	uc001tzj.2	Q15646	OTTHUMG00000154981	ENST00000257570.5:c.253G>T	12.37:g.121471492C>A	ENSP00000257570:p.Val85Leu		B2RAZ2|I1YDD2|O75686|Q17R95|Q9Y6K6|Q9Y6K7	Missense_Mutation	SNP	ENST00000257570.5	37	CCDS9211.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.231115	0.79688	.	.	ENSG00000135114	ENST00000257570;ENST00000339275	T;T	0.11821	2.74;2.74	4.52	4.52	0.55395	2-5-oligoadenylate synthetase, N-terminal (1);2-5-oligoadenylate synthetase, conserved site (1);	0.000000	0.47852	D	0.000203	T	0.29458	0.0734	M	0.74647	2.275	0.26569	N	0.973596	P;B	0.48089	0.905;0.423	P;B	0.54460	0.753;0.063	T	0.05178	-1.0901	10	0.52906	T	0.07	-1.1453	12.9391	0.58333	0.0:1.0:0.0:0.0	.	85;85	Q15646-2;Q15646	.;OASL_HUMAN	L	85	ENSP00000257570:V85L;ENSP00000341125:V85L	ENSP00000257570:V85L	V	-	1	0	OASL	119955875	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	4.113000	0.57851	2.496000	0.84212	0.555000	0.69702	GTG		0.577	OASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337875.2	NM_003733		A	121471492	C	A	121471492	3	1	726	1	0	0	0	0	1	0	0	0	10804	507	18	4	1311	4	OASL	12	121471492	Missense_Mutation	SNP	C	TCGA-KN-8419-01A-11D-2310-10	12454003	121471492	12380403	37	40813											
SPTB	6710	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	14	65245965	65245965	+	Splice_Site	SNP	C	C	T			TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr14:65245965C>T	ENST00000389721.5	-	21	4506		c.e21-1		SPTB_ENST00000542895.1_Splice_Site|SPTB_ENST00000389720.3_Splice_Site|SPTB_ENST00000389722.3_Splice_Site|SPTB_ENST00000556626.1_Splice_Site	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic						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)		CCACCCAAAGCTGCAGAGACC	0.572																																																0													56	61	59					14																	65245965		2203	4300	6503	SO:0001630	splice_region_variant	6710				CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"Pleckstrin homology (PH) domain containing"	11274	protein-coding gene	gene with protein product	"spherocytosis, clinical type I"	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.4474-1G>A	14.37:g.65245965C>T			Q15510|Q15519	Splice_Site	SNP	ENST00000389721.5	37	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.445979	0.84101	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000335612;ENST00000553938;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9238	0.88976	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SPTB	64315718	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.781000	0.85668	2.579000	0.87056	0.561000	0.74099	.		0.572	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1		Intron	T	65245965	C	T	65245965	5	4	726	1	0	0	0	0	0	0	1	0	15123	811	28	2	2642	2	SPTB	14	65245965	Splice_Site	SNP	C	TCGA-KN-8419-01A-11D-2310-10		65245965	42103575	38	40814											
KIAA0284	283638	ucsc.edu;mdanderson.org	37	14	105349472	105349472	+	Silent	SNP	C	C	T	rs12101026	byFrequency	TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr14:105349472C>T	ENST00000414716.3	+	8	906	c.678C>T	c.(676-678)ttC>ttT	p.F226F	CEP170B_ENST00000453495.1_Silent_p.F227F|CEP170B_ENST00000556508.1_Silent_p.F156F|CEP170B_ENST00000418279.1_Silent_p.F156F	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	226						cytoplasm (GO:0005737)|microtubule (GO:0005874)											CCAGCTACTTCGAGATCCCCA	0.716													c|||	432	0.086262	0.3116	0.0187	5008	,	,		12202	0.0		0.005	False		,,,				2504	0.002															0									,	835,3005		84,667,1169	11	16	14		678,468	-3.9	1	14	dbSNP_120	14	29,8183		0,29,4077	no	coding-synonymous,coding-synonymous	KIAA0284	NM_001112726.2,NM_015005.2	,	84,696,5246	TT,TC,CC		0.3531,21.7448,7.1689	,	226/1555,156/1520	105349472	864,11188	1920	4106	6026	SO:0001819	synonymous_variant	283638			AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"Cep170-related"		"KIAA0284"	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.678C>T	14.37:g.105349472C>T			Q2KHR7|Q86TI7	Silent	SNP	ENST00000414716.3	37	CCDS45175.1																																																																																				0.716	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2	NM_001112726		T	105349472	C	T	105349472	2	4	726	1	0	0	0	0	0	0	0	1	8168	883	31	1		1	KIAA0284	14	105349472	Silent	SNP	C	TCGA-KN-8419-01A-11D-2310-10	40103507	105349472	2000068	39	40815											
AHNAK2	113146	mdanderson.org	37	14	105410417	105410417	+	Silent	SNP	G	G	A	rs200284292	byFrequency	TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr14:105410417G>A	ENST00000333244.5	-	7	11490	c.11371C>T	c.(11371-11373)Ctg>Ttg	p.L3791L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3791						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)			TTGTCGGCCAGGGACAGGTCC	0.582													.|||	177	0.0353435	0.053	0.0231	5008	,	,		20409	0.0417		0.004	False		,,,				2504	0.046															0													216	217	217					14																	105410417		1998	4162	6160	SO:0001819	synonymous_variant	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.11371C>T	14.37:g.105410417G>A			Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																				0.582	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		A	105410417	G	A	105410417	2	1	726	1	0	0	0	0	0	0	0	1	415	991	35	2		2	AHNAK2	14	105410417	Silent	SNP	G	TCGA-KN-8419-01A-11D-2310-10	60945	105410417	1939123	40	40816			2	87		3	3	2727	G		1.581542e-05
AHNAK2	113146	mdanderson.org	37	14	105410435	105410435	+	Silent	SNP	G	G	A	rs201237638	byFrequency	TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr14:105410435G>A	ENST00000333244.5	-	7	11472	c.11353C>T	c.(11353-11355)Ctg>Ttg	p.L3785L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3785						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)			TCCCCCTCCAGCTGTGCACTA	0.582													.|||	181	0.0361422	0.0545	0.0245	5008	,	,		20290	0.0437		0.004	False		,,,				2504	0.045															0													195	197	196					14																	105410435		1999	4161	6160	SO:0001819	synonymous_variant	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.11353C>T	14.37:g.105410435G>A			Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																				0.582	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		A	105410435	G	A	105410435	2	1	726	1	0	0	0	0	0	0	0	1	415	962	34	2		2	AHNAK2	14	105410435	Silent	SNP	G	TCGA-KN-8419-01A-11D-2310-10	18	105410435	1939105	41	40817			2	87		3	3	2727	G		1.581542e-05
AHNAK2	113146	mdanderson.org	37	14	105413143	105413143	+	Missense_Mutation	SNP	G	G	A	rs201434975	byFrequency	TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr14:105413143G>A	ENST00000333244.5	-	7	8764	c.8645C>T	c.(8644-8646)cCa>cTa	p.P2882L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2882						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)			GTGGCCCTCTGGGAGTTTCAC	0.622																																																0													121	131	128					14																	105413143		1909	4115	6024	SO:0001583	missense	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.8645C>T	14.37:g.105413143G>A	ENSP00000353114:p.Pro2882Leu		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	a	8.332	0.826661	0.16749	.	.	ENSG00000185567	ENST00000333244	T	0.03272	3.99	3.27	1.39	0.22231	.	.	.	.	.	T	0.07728	0.0194	M	0.83384	2.64	0.09310	N	1	B	0.15473	0.013	B	0.17979	0.02	T	0.18178	-1.0345	9	0.72032	D	0.01	.	8.7413	0.34558	0.0941:0.0:0.7578:0.1481	.	2882	Q8IVF2	AHNK2_HUMAN	L	2882	ENSP00000353114:P2882L	ENSP00000353114:P2882L	P	-	2	0	AHNAK2	104484188	0.015000	0.18098	0.000000	0.03702	0.000000	0.00434	1.021000	0.30040	-0.178000	0.10672	-4.235000	0.00009	CCA		0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		A	105413143	G	A	105413143	3	1	726	1	0	0	0	0	1	0	0	0	415	1348	47	2	8746	2	AHNAK2	14	105413143	Missense_Mutation	SNP	G	TCGA-KN-8419-01A-11D-2310-10	2708	105413143	1936397	42	40818			2	87		3	3	2727	G		1.581542e-05
OR4N4	283694	mdanderson.org	37	15	22383138	22383138	+	Silent	SNP	C	C	G			TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr15:22383138C>G	ENST00000328795.4	+	1	757	c.666C>G	c.(664-666)ctC>ctG	p.L222L	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	222						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)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CAGTCATCCTCTGCCATGTTC	0.498																																																0													163	135	145					15																	22383138		2192	4261	6453	SO:0001819	synonymous_variant	283694			AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"GPCR / Class A : Olfactory receptors"	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.666C>G	15.37:g.22383138C>G			Q6IEY3|Q6IF56	Silent	SNP	ENST00000328795.4	37	CCDS32173.1																																																																																				0.498	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1			G	22383138	C	G	22383138	2	3	726	1	0	0	0	0	0	0	0	1	11080	900	32	4		4	OR4N4	15	22383138	Silent	SNP	C	TCGA-KN-8419-01A-11D-2310-10		22383138	80148254	43	40819											
CHTF18	63922	mdanderson.org	37	16	840607	840607	+	Missense_Mutation	SNP	C	C	G	rs149274107	byFrequency	TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr16:840607C>G	ENST00000262315.9	+	7	898	c.835C>G	c.(835-837)Cac>Gac	p.H279D	RPUSD1_ENST00000567114.1_5'Flank|RPUSD1_ENST00000561734.1_5'Flank|CHTF18_ENST00000455171.2_Missense_Mutation_p.H307D|CHTF18_ENST00000317063.6_Missense_Mutation_p.H474D|RPUSD1_ENST00000565809.1_5'Flank|RPUSD1_ENST00000007264.2_5'Flank|CHTF18_ENST00000491530.1_3'UTR	NM_022092.2	NP_071375.1	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	279					cell cycle (GO:0007049)|DNA replication (GO:0006260)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				CGCCTCCAGTCACTGCCTCTG	0.632													C|||	39	0.00778754	0.0295	0.0	5008	,	,		13649	0.0		0.0	False		,,,				2504	0.0															0								C	ASP/HIS	97,4023		1,95,1964	34	39	38		835	4.2	0.9	16	dbSNP_134	38	0,8378		0,0,4189	yes	missense	CHTF18	NM_022092.2	81	1,95,6153	GG,GC,CC		0.0,2.3544,0.7761	benign	279/976	840607	97,12401	2060	4189	6249	SO:0001583	missense	63922			BC018184	CCDS45371.1	16p13.3	2010-04-21	2003-12-09		ENSG00000127586	ENSG00000127586		"ATPases / AAA-type"	18435	protein-coding gene	gene with protein product		613201	"chromosome 16 open reading frame 41"	C16orf41		12171929	Standard	NM_022092		Approved	CHL12, C321D2.4, Ctf18	uc002cke.4	Q8WVB6	OTTHUMG00000047838	ENST00000262315.9:c.835C>G	16.37:g.840607C>G	ENSP00000262315:p.His279Asp		B7ZBA2|D3DU68|Q7Z6Y4|Q7Z6Y6|Q9BR83|Q9BRG5|Q9H7K3	Missense_Mutation	SNP	ENST00000262315.9	37	CCDS45371.1	18|18	0.008241758241758242|0.008241758241758242	18|18	0.036585365853658534|0.036585365853658534	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	C|C	10.75|10.75	1.439532|1.439532	0.25900|0.25900	0.023544|0.023544	0.0|0.0	ENSG00000127586|ENSG00000127586	ENST00000317063;ENST00000455171;ENST00000262315|ENST00000426047	T;T;T|.	0.09723|.	2.95;3.0;2.99|.	5.2|5.2	4.18|4.18	0.49190|0.49190	.|.	0.215873|.	0.48767|.	D|.	0.000165|.	T|.	0.22244|.	0.0536|.	L|L	0.34521|0.34521	1.04|1.04	0.49582|0.49582	D|D	0.999803|0.999803	P;P|.	0.44006|.	0.824;0.73|.	B;B|.	0.38020|.	0.263;0.135|.	T|.	0.17137|.	-1.0379|.	10|.	0.12103|0.30854	T|T	0.63|0.27	-28.5535|-28.5535	12.2151|12.2151	0.54402|0.54402	0.1711:0.8288:0.0:0.0|0.1711:0.8288:0.0:0.0	.|.	307;279|.	Q8WVB6-2;Q8WVB6|.	.;CTF18_HUMAN|.	D|X	474;307;279|174	ENSP00000313029:H474D;ENSP00000406252:H307D;ENSP00000262315:H279D|.	ENSP00000262315:H279D|ENSP00000412015:S174X	H|S	+|+	1|2	0|0	CHTF18|CHTF18	780608|780608	0.929000|0.929000	0.31497|0.31497	0.872000|0.872000	0.34217|0.34217	0.050000|0.050000	0.14768|0.14768	3.112000|3.112000	0.50368|0.50368	2.436000|2.436000	0.82500|0.82500	0.478000|0.478000	0.44815|0.44815	CAC|TCA		0.632	CHTF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109061.3	NM_022092		G	840607	C	G	840607	3	3	726	1	0	0	0	0	1	0	0	0	3416	826	29	4	861	4	CHTF18	16	840607	Missense_Mutation	SNP	C	TCGA-KN-8419-01A-11D-2310-10		840607	89514146	44	40820											
CHTF18	63922	mdanderson.org	37	16	845819	845819	+	Silent	SNP	A	A	G	rs2294446	byFrequency	TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr16:845819A>G	ENST00000262315.9	+	17	2373	c.2310A>G	c.(2308-2310)gcA>gcG	p.A770A	CHTF18_ENST00000455171.2_Silent_p.A798A|CHTF18_ENST00000317063.6_Silent_p.A979A	NM_022092.2	NP_071375.1	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	770					cell cycle (GO:0007049)|DNA replication (GO:0006260)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				ACATTCTTGCACCCAAGCTCC	0.687													N|||	988	0.197284	0.357	0.0865	5008	,	,		11945	0.1012		0.0169	False		,,,				2504	0.3446															0										1164,3060		143,878,1091	18	26	24		2310	-8.4	0	16	dbSNP_100	24	179,8245		1,177,4034	yes	coding-synonymous	CHTF18	NM_022092.2		144,1055,5125	GG,GA,AA		2.1249,27.5568,10.6183		770/976	845819	1343,11305	2112	4212	6324	SO:0001819	synonymous_variant	63922			BC018184	CCDS45371.1	16p13.3	2010-04-21	2003-12-09		ENSG00000127586	ENSG00000127586		"ATPases / AAA-type"	18435	protein-coding gene	gene with protein product		613201	"chromosome 16 open reading frame 41"	C16orf41		12171929	Standard	NM_022092		Approved	CHL12, C321D2.4, Ctf18	uc002cke.4	Q8WVB6	OTTHUMG00000047838	ENST00000262315.9:c.2310A>G	16.37:g.845819A>G			B7ZBA2|D3DU68|Q7Z6Y4|Q7Z6Y6|Q9BR83|Q9BRG5|Q9H7K3	Silent	SNP	ENST00000262315.9	37	CCDS45371.1																																																																																				0.687	CHTF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109061.3	NM_022092		G	845819	A	G	845819	2	3	726	1	0	0	0	0	0	0	0	1	3416	146	6	3		3	CHTF18	16	845819	Silent	SNP	A	TCGA-KN-8419-01A-11D-2310-10	5212	845819	89508934	45	40821											
TAOK2	9344	mdanderson.org	37	16	29999225	29999225	+	Missense_Mutation	SNP	G	G	A	rs11864149	byFrequency	TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr16:29999225G>A	ENST00000308893.4	+	16	4675	c.3632G>A	c.(3631-3633)cGc>cAc	p.R1211H	TAOK2_ENST00000543033.1_Missense_Mutation_p.R1098H|TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000416441.2_Missense_Mutation_p.R1038H	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	1211				R -> H (in Ref. 1; AAD45616). {ECO:0000305}.	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						CCTGCCTCCCGCCAGCCACTG	0.721													G|||	368	0.0734824	0.1604	0.0706	5008	,	,		11363	0.003		0.0835	False		,,,				2504	0.0204															0								G	,HIS/ARG	479,3449		22,435,1507	6	7	6		,3632	0.6	0.1	16	dbSNP_120	6	507,7365		18,471,3447	no	intron,missense	TAOK2	NM_004783.2,NM_016151.2	,29	40,906,4954	AA,AG,GG		6.4405,12.1945,8.3559	,possibly-damaging	,1211/1236	29999225	986,10814	1964	3936	5900	SO:0001583	missense	9344			AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.3632G>A	16.37:g.29999225G>A	ENSP00000310094:p.Arg1211His		A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Missense_Mutation	SNP	ENST00000308893.4	37	CCDS10663.1	174	0.07967032967032966	79	0.16056910569105692	33	0.09116022099447514	1	0.0017482517482517483	61	0.08047493403693931	G	0.054	-1.241336	0.01493	0.121945	0.064405	ENSG00000149930	ENST00000308893;ENST00000543033	T;T	0.71222	-0.52;-0.55	4.04	0.591	0.17465	.	1.515130	0.04227	N	0.334654	T	0.00271	0.0008	N	0.08118	0	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.02625	-1.1132	8	.	.	.	.	7.7362	0.28815	0.2033:0.1469:0.6498:0.0	rs11864149	1402;1038;1211	Q86V37;Q9UL54-3;Q9UL54	.;.;TAOK2_HUMAN	H	1211;1098	ENSP00000310094:R1211H;ENSP00000440336:R1098H	.	R	+	2	0	TAOK2	29906726	0.000000	0.05858	0.100000	0.21137	0.027000	0.11550	0.386000	0.20702	0.037000	0.15575	-1.119000	0.02030	CGC		0.721	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		A	29999225	G	A	29999225	3	1	726	1	0	0	0	0	1	0	0	0	15553	1087	38	1	3690	1	TAOK2	16	29999225	Missense_Mutation	SNP	G	TCGA-KN-8419-01A-11D-2310-10	29153406	29999225	60355528	46	40822											
HSF5	124535	broad.mit.edu	37	17	56565433	56565434	+	In_Frame_Ins	INS	-	-	CGGCCC	rs550036152	byFrequency	TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr17:56565433_56565434insCGGCCC	ENST00000323777.3	-	1	311_312	c.202_203insGGGCCG	c.(202-204)gag>gGGGCCGag	p.67_68insGA		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	67					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)					GAGCTCGGGCTcggccccggcc	0.723														23	0.00459265	0.0106	0.0058	5008	,	,		9066	0.0		0.004	False		,,,				2504	0.001															0										14,3682		1,12,1835						3.7	1			10	32,7446		5,22,3712	no	coding	HSF5	NM_001080439.1		6,34,5547	A1A1,A1R,RR		0.4279,0.3788,0.4117				46,11128				SO:0001652	inframe_insertion	124535			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.197_202dupGGGCCG	17.37:g.56565434_56565439dupCGGCCC	ENSP00000313243:p.Gly66_Ala67dup		Q08EH7|Q8N7V2	In_Frame_Ins	INS	ENST00000323777.3	37	CCDS32690.1																																																																																				0.723	HSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444719.1	XM_064190		CGGCCC	56565434	-	CGGCCC	56565433	7	5	726	1	0	1	1	0	0	0	0	0	7401	1551	54	0	1611	0	HSF5	17	56565433	In_Frame_Ins	INS	-	TCGA-KN-8419-01A-11D-2310-10		56565433	24629777	47	40823											
MED13	9969	ucsc.edu;bcgsc.ca	37	17	60030379	60030379	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr17:60030379A>G	ENST00000397786.2	-	27	6140	c.6064T>C	c.(6064-6066)Tct>Cct	p.S2022P		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	2022					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						TGTACAGGAGAACCAGTTGGA	0.458																																																0													125	123	124					17																	60030379		1884	4116	6000	SO:0001583	missense	9969			AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"thyroid hormone receptor associated protein 1"	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.6064T>C	17.37:g.60030379A>G	ENSP00000380888:p.Ser2022Pro		B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	37	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.373983	0.82573	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	D	0.83673	-1.75	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.89667	0.6781	M	0.66439	2.03	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	D	0.89487	0.3754	10	0.44086	T	0.13	-15.3752	15.4442	0.75216	1.0:0.0:0.0:0.0	.	2022	Q9UHV7	MED13_HUMAN	P	2022;2021	ENSP00000380888:S2022P	ENSP00000262436:S2021P	S	-	1	0	MED13	57385161	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.957000	0.93082	2.045000	0.60652	0.460000	0.39030	TCT		0.458	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		G	60030379	A	G	60030379	3	3	726	1	0	0	0	0	1	0	0	0	9432	246	9	3	476	3	MED13	17	60030379	Missense_Mutation	SNP	A	TCGA-KN-8419-01A-11D-2310-10	3464946	60030379	21164831	48	40824											
DSG1	1828	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	18	28926018	28926018	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr18:28926018G>A	ENST00000257192.4	+	14	2169	c.1957G>A	c.(1957-1959)Gga>Aga	p.G653R	RP11-534N16.1_ENST00000578477.1_RNA|DSG1_ENST00000462981.2_Missense_Mutation_p.G12R|RP11-534N16.1_ENST00000581856.1_RNA|RNU6-167P_ENST00000384292.1_RNA|RP11-534N16.1_ENST00000578119.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	653					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)			GAGAATGACAGGATTTGAACT	0.353																																																0													86	85	85					18																	28926018		2203	4300	6503	SO:0001583	missense	1828			X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"Cadherins / Major cadherins"	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.1957G>A	18.37:g.28926018G>A	ENSP00000257192:p.Gly653Arg		B7Z845	Missense_Mutation	SNP	ENST00000257192.4	37	CCDS11896.1	.	.	.	.	.	.	.	.	.	.	G	10.37	1.331856	0.24167	.	.	ENSG00000134760	ENST00000257192	T	0.76186	-1.0	5.95	4.15	0.48705	Cadherin, cytoplasmic domain (1);	0.000000	0.64402	D	0.000002	T	0.80396	0.4615	L	0.52573	1.65	0.34238	D	0.677296	D	0.76494	0.999	D	0.74348	0.983	D	0.85203	0.1016	10	0.56958	D	0.05	.	10.1071	0.42539	0.073:0.135:0.7921:0.0	.	653	Q02413	DSG1_HUMAN	R	653	ENSP00000257192:G653R	ENSP00000257192:G653R	G	+	1	0	DSG1	27180016	1.000000	0.71417	1.000000	0.80357	0.471000	0.32888	2.890000	0.48609	1.521000	0.48983	0.609000	0.83330	GGA		0.353	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942		A	28926018	G	A	28926018	3	1	726	1	0	0	0	0	1	0	0	0	4778	1001	35	2	2011	2	DSG1	18	28926018	Missense_Mutation	SNP	G	TCGA-KN-8419-01A-11D-2310-10		28926018	49151230	49	40825											
ZCCHC2	54877	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	18	60242420	60242420	+	Missense_Mutation	SNP	A	A	T			TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr18:60242420A>T	ENST00000269499.5	+	13	3524	c.3106A>T	c.(3106-3108)Aat>Tat	p.N1036Y	ZCCHC2_ENST00000586834.1_Missense_Mutation_p.N715Y	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	1036						cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						CTATTATCCTAATCCAATGCC	0.493																																																0													74	83	80					18																	60242420		2074	4203	6277	SO:0001583	missense	54877			AB051531	CCDS45880.1	18q21.33	2012-04-19			ENSG00000141664	ENSG00000141664		"Zinc fingers, CCHC domain containing"	22916	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 49"	C18orf49		11214970	Standard	NM_017742		Approved	FLJ20281, KIAA1744, FLJ20222	uc002lip.4	Q9C0B9		ENST00000269499.5:c.3106A>T	18.37:g.60242420A>T	ENSP00000269499:p.Asn1036Tyr		B2RPG6|Q8N3S1|Q9NXF6	Missense_Mutation	SNP	ENST00000269499.5	37	CCDS45880.1	.	.	.	.	.	.	.	.	.	.	A	14.59	2.581891	0.46006	.	.	ENSG00000141664	ENST00000269499	T	0.25579	1.79	5.29	4.13	0.48395	.	0.292895	0.34200	N	0.004174	T	0.35711	0.0941	L	0.51422	1.61	0.31721	N	0.638306	D	0.53885	0.963	P	0.54401	0.751	T	0.46091	-0.9216	10	0.66056	D	0.02	-7.6496	11.3077	0.49345	0.9282:0.0:0.0718:0.0	.	1036	Q9C0B9	ZCHC2_HUMAN	Y	1036	ENSP00000269499:N1036Y	ENSP00000269499:N1036Y	N	+	1	0	ZCCHC2	58393400	0.015000	0.18098	0.031000	0.17742	0.926000	0.56050	2.296000	0.43584	0.944000	0.37579	0.528000	0.53228	AAT		0.493	ZCCHC2-005	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450083.1	NM_017742		T	60242420	A	T	60242420	3	4	726	1	0	0	0	0	1	0	0	0	17592	362	13	5	3156	5	ZCCHC2	18	60242420	Missense_Mutation	SNP	A	TCGA-KN-8419-01A-11D-2310-10	31316402	60242420	17834828	50	40826											
MED16	10025	mdanderson.org	37	19	871135	871135	+	Silent	SNP	A	A	G	rs1683569	byFrequency	TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr19:871135A>G	ENST00000589119.1	-	12	2216	c.2217T>C	c.(2215-2217)gtT>gtC	p.V739V	MED16_ENST00000325464.1_Silent_p.V739V|MED16_ENST00000312090.6_Silent_p.V758V|MED16_ENST00000395808.3_Silent_p.V739V|MED16_ENST00000606828.1_5'Flank|MED16_ENST00000269814.4_Missense_Mutation_p.L675S			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	739					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)		GCAGGCGGCTAACCAGGCCGT	0.701													g|||	1326	0.264776	0.5008	0.2205	5008	,	,		12505	0.0317		0.2873	False		,,,				2504	0.1943															0										1482,2440		291,900,770	9	11	10		2217	3.1	1	19	dbSNP_89	10	1843,5871		223,1397,2237	no	coding-synonymous	MED16	NM_005481.2		514,2297,3007	GG,GA,AA		23.8916,37.7868,28.5751		739/878	871135	3325,8311	1961	3857	5818	SO:0001819	synonymous_variant	10025			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.2217T>C	19.37:g.871135A>G			Q6PJT2|Q96AD4|Q96I35|Q9Y652	Silent	SNP	ENST00000589119.1	37	CCDS12047.1	567	0.25961538461538464	240	0.4878048780487805	89	0.24585635359116023	20	0.03496503496503497	218	0.287598944591029	g	18.38	3.611665	0.66558	0.377868	0.238916	ENSG00000175221	ENST00000269814	.	.	.	4.13	3.06	0.35304	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.47065	P	6.960000000000299E-4	B	0.02656	0.0	B	0.01281	0.0	T	0.44711	-0.9310	6	0.09590	T	0.72	-40.3568	9.783	0.40660	0.177:0.0:0.823:0.0	rs1683569;rs59662712;rs1683569	675	Q9Y2X0-4	.	S	675	.	ENSP00000269814:L675S	L	-	2	0	MED16	822135	1.000000	0.71417	0.984000	0.44739	0.793000	0.44817	2.176000	0.42500	0.718000	0.32166	-0.258000	0.10820	TTA		0.701	MED16-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457902.3	NM_005481		G	871135	A	G	871135	2	3	726	1	0	0	0	0	0	0	0	1	9436	349	13	3		3	MED16	19	871135	Silent	SNP	A	TCGA-KN-8419-01A-11D-2310-10		871135	58257848	51	40827											
WDR18	57418	mdanderson.org	37	19	984533	984533	+	Silent	SNP	T	T	C	rs2301810	byFrequency	TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr19:984533T>C	ENST00000251289.5	+	1	203	c.180T>C	c.(178-180)aaT>aaC	p.N60N	WDR18_ENST00000587001.2_Silent_p.N60N|WDR18_ENST00000591997.1_Intron	NM_024100.3	NP_077005.2	Q9BV38	WDR18_HUMAN	WD repeat domain 18	60					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|lung(2)|skin(2)	7		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGCAAGAATTACATCAGCG	0.711													.|||	2246	0.448482	0.4667	0.438	5008	,	,		11366	0.3899		0.5577	False		,,,				2504	0.3793															0								C		1857,2351		456,945,703	7	9	9		180	3.3	1	19	dbSNP_100	9	4066,4176		1101,1864,1156	no	coding-synonymous	WDR18	NM_024100.3		1557,2809,1859	CC,CT,TT		49.3327,44.1302,47.5743		60/433	984533	5923,6527	2104	4121	6225	SO:0001819	synonymous_variant	57418				CCDS12051.1	19p13.3	2013-01-09				ENSG00000065268		"WD repeat domain containing"	17956	protein-coding gene	gene with protein product	"Involved in Processing ITS2 3 homolog (S. cerevisiae)"					22190735	Standard	NM_024100		Approved	Ipi3	uc002lqm.1	Q9BV38		ENST00000251289.5:c.180T>C	19.37:g.984533T>C			O60390|Q9BWR2	Silent	SNP	ENST00000251289.5	37	CCDS12051.1																																																																																				0.711	WDR18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458225.2			C	984533	T	C	984533	2	2	726	1	0	0	0	0	0	0	0	1	17283	1490	52	3		3	WDR18	19	984533	Silent	SNP	T	TCGA-KN-8419-01A-11D-2310-10	113398	984533	58144450	52	40828											
HMHA1	23526	broad.mit.edu;bcgsc.ca	37	19	1073206	1073206	+	Silent	SNP	C	C	A			TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr19:1073206C>A	ENST00000313093.2	+	3	711	c.480C>A	c.(478-480)gtC>gtA	p.V160V	HMHA1_ENST00000543365.1_Silent_p.V43V|HMHA1_ENST00000536472.1_De_novo_Start_InFrame|HMHA1_ENST00000592335.1_Nonsense_Mutation_p.S41*|HMHA1_ENST00000586866.1_Silent_p.V164V|HMHA1_ENST00000590214.1_Silent_p.V187V|HMHA1_ENST00000539243.2_Silent_p.V176V	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	160					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)		CTCTGCGTGTCATGCATCAGA	0.647																																																0													66	64	64					19																	1073206		2203	4300	6503	SO:0001819	synonymous_variant	23526			D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"Rho GTPase activating proteins"	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.480C>A	19.37:g.1073206C>A			B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Silent	SNP	ENST00000313093.2	37	CCDS32863.1																																																																																				0.647	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1			A	1073206	C	A	1073206	2	1	726	1	0	0	0	0	0	0	0	1	7242	813	29	4		4	HMHA1	19	1073206	Silent	SNP	C	TCGA-KN-8419-01A-11D-2310-10	88673	1073206	58055777	53	40829											
PRAM1	84106	mdanderson.org	37	19	8564469	8564469	+	Missense_Mutation	SNP	C	C	G	rs371461475|rs4990821	byFrequency	TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr19:8564469C>G	ENST00000423345.4	-	2	743	c.223G>C	c.(223-225)Gag>Cag	p.E75Q	PRAM1_ENST00000255612.3_Missense_Mutation_p.E75Q			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	123	8 X 12 AA repeats of K-P-P-[PQ]-P-[EQ]- [VAF]-T-D-L-P-K.|Pro-rich.				integrin-mediated signaling pathway (GO:0007229)|regulation of neutrophil degranulation (GO:0043313)		lipid binding (GO:0008289)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						TCAGTGACCTCAGGCGGCGGG	0.642													C|||	1814	0.36222	0.6346	0.2968	5008	,	,		12296	0.1587		0.3062	False		,,,				2504	0.3078															0													41	53	49					19																	8564469		1849	4082	5931	SO:0001583	missense	84106			BC028012	CCDS45954.1, CCDS45954.2	19p13.2	2009-01-21				ENSG00000133246			30091	protein-coding gene	gene with protein product		606466				11301322, 15572693	Standard	NM_032152		Approved	PML-RAR	uc002mkd.3	Q96QH2		ENST00000423345.4:c.223G>C	19.37:g.8564469C>G	ENSP00000408342:p.Glu75Gln		Q8N6W7	Missense_Mutation	SNP	ENST00000423345.4	37	CCDS45954.2	824	0.3772893772893773	382	0.7764227642276422	110	0.30386740331491713	82	0.14335664335664336	250	0.32981530343007914	c	8.200	0.797994	0.16327	.	.	ENSG00000133246	ENST00000255612;ENST00000423345	T;T	0.14144	2.53;2.53	3.74	-1.55	0.08558	.	2.531360	0.02280	N	0.069320	T	0.00012	0.0000	L	0.41824	1.3	0.80722	P	0.0	B;B	0.33940	0.433;0.433	B;B	0.27887	0.084;0.084	T	0.36065	-0.9763	9	0.24483	T	0.36	.	6.2323	0.20742	0.0:0.3333:0.4737:0.193	rs4990821	75;123	Q96QH2-2;Q96QH2	.;PRAM_HUMAN	Q	75	ENSP00000255612:E75Q;ENSP00000408342:E75Q	ENSP00000255612:E75Q	E	-	1	0	PRAM1	8470469	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.203000	0.09438	-0.252000	0.09528	-0.187000	0.12897	GAG		0.642	PRAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397040.3	NM_032152		G	8564469	C	G	8564469	3	3	726	1	0	0	0	0	1	0	0	0	12428	835	29	4	1822	4	PRAM1	19	8564469	Missense_Mutation	SNP	C	TCGA-KN-8419-01A-11D-2310-10	7491263	8564469	50564514	54	40830											
MUC16	94025	mdanderson.org	37	19	8999449	8999449	+	Missense_Mutation	SNP	G	G	T	rs76798407	byFrequency	TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr19:8999449G>T	ENST00000397910.4	-	56	40929	c.40726C>A	c.(40726-40728)Cac>Aac	p.H13576N	MUC16_ENST00000380951.5_Missense_Mutation_p.H217N	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13578	SEA 10. {ECO:0000255|PROSITE- ProRule:PRU00188}.			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						GTGATGCTGTGGGTCAGCTGG	0.572																																																0													227	190	202					19																	8999449		2053	4200	6253	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.40726C>A	19.37:g.8999449G>T	ENSP00000381008:p.His13576Asn		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	2.590	-0.295337	0.05532	.	.	ENSG00000181143	ENST00000397910;ENST00000380951	T;T	0.35605	1.3;1.3	2.95	1.87	0.25490	SEA (2);	.	.	.	.	T	0.35158	0.0922	L	0.31752	0.955	.	.	.	P;P	0.44281	0.458;0.831	B;P	0.54664	0.192;0.758	T	0.39482	-0.9612	8	0.23891	T	0.37	.	7.1711	0.25719	0.0:0.0:0.7333:0.2667	.	21221;13576	Q8WXI7;B5ME49	MUC16_HUMAN;.	N	13576;217	ENSP00000381008:H13576N;ENSP00000370338:H217N	ENSP00000370338:H217N	H	-	1	0	MUC16	8860449	0.000000	0.05858	0.319000	0.25293	0.150000	0.21749	-0.331000	0.07914	0.784000	0.33661	0.555000	0.69702	CAC		0.572	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	8999449	G	T	8999449	3	4	726	1	0	0	0	0	1	0	0	0	9975	1348	47	4	2913	4	MUC16	19	8999449	Missense_Mutation	SNP	G	TCGA-KN-8419-01A-11D-2310-10	434980	8999449	50129534	55	40831			3	88		3	3	6157	N	T_G_A	8.029039e-05
MUC16	94025	mdanderson.org	37	19	8999478	8999478	+	Missense_Mutation	SNP	T	T	C	rs73493659	byFrequency	TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr19:8999478T>C	ENST00000397910.4	-	56	40900	c.40697A>G	c.(40696-40698)cAg>cGg	p.Q13566R	MUC16_ENST00000380951.5_Missense_Mutation_p.Q207R	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13568	SEA 10. {ECO:0000255|PROSITE- ProRule:PRU00188}.			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						CCAGTATAGCTGCTCTCTGTC	0.587																																																0													176	148	157					19																	8999478		2001	4182	6183	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.40697A>G	19.37:g.8999478T>C	ENSP00000381008:p.Gln13566Arg		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.200|0.200	-1.045174|-1.045174	0.01997|0.01997	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000397910;ENST00000380951|ENST00000542240	T;T|.	0.29397|.	1.57;1.57|.	3.48|3.48	-4.27|-4.27	0.03744|0.03744	SEA (2);|.	.|.	.|.	.|.	.|.	T|T	0.46464|0.46464	0.1394|0.1394	L|L	0.42245|0.42245	1.32|1.32	.|.	.|.	.|.	B;P|.	0.39576|.	0.001;0.679|.	B;P|.	0.51101|.	0.002;0.659|.	T|T	0.52290|0.52290	-0.8595|-0.8595	8|4	0.11485|.	T|.	0.65|.	-0.0012|-0.0012	11.6309|11.6309	0.51173|0.51173	0.0:0.6859:0.0:0.3141|0.0:0.6859:0.0:0.3141	.|.	21211;13566|.	Q8WXI7;B5ME49|.	MUC16_HUMAN;.|.	R|G	13566;207|406	ENSP00000381008:Q13566R;ENSP00000370338:Q207R|.	ENSP00000370338:Q207R|.	Q|S	-|-	2|1	0|0	MUC16|MUC16	8860478|8860478	0.000000|0.000000	0.05858|0.05858	0.018000|0.018000	0.16275|0.16275	0.063000|0.063000	0.16089|0.16089	-2.569000|-2.569000	0.00915|0.00915	-1.289000|-1.289000	0.02375|0.02375	0.454000|0.454000	0.30748|0.30748	CAG|AGC		0.587	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		C	8999478	T	C	8999478	3	2	726	1	0	0	0	0	1	0	0	0	9975	1580	55	3	2942	3	MUC16	19	8999478	Missense_Mutation	SNP	T	TCGA-KN-8419-01A-11D-2310-10	29	8999478	50129505	56	40832			3	88		3	3	6157	N	T_G_A	8.029039e-05
MUC16	94025	mdanderson.org	37	19	9005605	9005605	+	Silent	SNP	A	A	T	rs74835716		TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr19:9005605A>T	ENST00000397910.4	-	46	40004	c.39801T>A	c.(39799-39801)acT>acA	p.T13267T	MUC16_ENST00000380951.5_5'Flank	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13269	SEA 8. {ECO:0000255|PROSITE- ProRule:PRU00188}.				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						GTCCCAGCTCAGTGATGCTGT	0.567																																																0													175	158	164					19																	9005605		2043	4185	6228	SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.39801T>A	19.37:g.9005605A>T			Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	3.366	-0.129417	0.06753	.	.	ENSG00000181143	ENST00000542240	.	.	.	3.51	-5.81	0.02340	.	.	.	.	.	T	0.11965	0.0291	.	.	.	.	.	.	.	.	.	.	.	.	T	0.27297	-1.0078	3	.	.	.	-11.8867	0.269	0.00229	0.2614:0.1578:0.3056:0.2752	.	.	.	.	Q	107	.	.	L	-	2	0	MUC16	8866605	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.577000	0.05847	-1.052000	0.03222	-2.889000	0.00095	CTG		0.567	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9005605	A	T	9005605	2	4	726	1	0	0	0	0	0	0	0	1	9975	175	7	5		5	MUC16	19	9005605	Silent	SNP	A	TCGA-KN-8419-01A-11D-2310-10	6127	9005605	50123378	57	40833			3	88		3	3	6157	N	T_G_A	8.029039e-05
NLRP9	338321	ucsc.edu;bcgsc.ca	37	19	56241255	56241255	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr19:56241255A>G	ENST00000332836.2	-	3	1963	c.1936T>C	c.(1936-1938)Tcc>Ccc	p.S646P		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	646						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)		ATCGCCAGGGAGGGATCATCA	0.438																																																0													96	95	96					19																	56241255		2203	4300	6503	SO:0001583	missense	338321			AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22941	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"	609663	"NACHT, leucine rich repeat and PYD containing 9"	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.1936T>C	19.37:g.56241255A>G	ENSP00000331857:p.Ser646Pro		B2RN12|Q86W27	Missense_Mutation	SNP	ENST00000332836.2	37	CCDS12934.1	.	.	.	.	.	.	.	.	.	.	a	13.31	2.199816	0.38905	.	.	ENSG00000185792	ENST00000332836;ENST00000333452	T	0.54675	0.56	3.4	1.22	0.21188	.	.	.	.	.	T	0.59595	0.2205	M	0.75264	2.295	0.09310	N	1	P	0.52692	0.955	P	0.55871	0.786	T	0.48222	-0.9054	9	0.42905	T	0.14	.	3.3706	0.07219	0.6306:0.2404:0.129:0.0	.	646	Q7RTR0	NALP9_HUMAN	P	646	ENSP00000331857:S646P	ENSP00000331857:S646P	S	-	1	0	NLRP9	60933067	0.001000	0.12720	0.001000	0.08648	0.003000	0.03518	0.706000	0.25690	0.205000	0.20568	0.514000	0.50259	TCC		0.438	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820		G	56241255	A	G	56241255	3	3	726	1	0	0	0	0	1	0	0	0	10486	304	11	3	1067	3	NLRP9	19	56241255	Missense_Mutation	SNP	A	TCGA-KN-8419-01A-11D-2310-10	47235650	56241255	2887728	58	40834											
ZNF831	128611	mdanderson.org	37	20	57767041	57767041	+	Missense_Mutation	SNP	G	G	A	rs564350771		TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr20:57767041G>A	ENST00000371030.2	+	1	967	c.967G>A	c.(967-969)Gcg>Acg	p.A323T		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	323							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)					GGCGACGGCAGCGGAGAAGCC	0.716													.|||	1	0.000199681	0.0008	0.0	5008	,	,		11993	0.0		0.0	False		,,,				2504	0.0															0													11	14	13					20																	57767041		1658	3888	5546	SO:0001583	missense	128611			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 174"	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.967G>A	20.37:g.57767041G>A	ENSP00000360069:p.Ala323Thr		Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	G	5.466	0.271092	0.10349	.	.	ENSG00000124203	ENST00000371030	T	0.04234	3.67	5.19	-3.85	0.04243	.	.	.	.	.	T	0.03390	0.0098	L	0.36672	1.1	0.09310	N	1	B	0.18863	0.031	B	0.09377	0.004	T	0.43718	-0.9374	9	0.30078	T	0.28	0.0026	4.3551	0.11174	0.1062:0.1416:0.505:0.2472	.	323	Q5JPB2	ZN831_HUMAN	T	323	ENSP00000360069:A323T	ENSP00000360069:A323T	A	+	1	0	ZNF831	57200436	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.006000	0.13152	-0.627000	0.05589	-0.293000	0.09583	GCG		0.716	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		A	57767041	G	A	57767041	3	1	726	1	0	0	0	0	1	0	0	0	18190	971	34	2	969	2	ZNF831	20	57767041	Missense_Mutation	SNP	G	TCGA-KN-8419-01A-11D-2310-10		57767041	5258479	59	40835											
KRTAP10-1	386677	mdanderson.org	37	21	45959195	45959195	+	Missense_Mutation	SNP	G	G	A	rs233316	byFrequency	TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr21:45959195G>A	ENST00000400375.1	-	1	883	c.839C>T	c.(838-840)cCg>cTg	p.P280L	TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	280			P -> L (in dbSNP:rs233316). {ECO:0000269|PubMed:15489334}.			keratin filament (GO:0045095)				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						TCAGCAGGCCGGGCGGGAGCA	0.721													G|||	3114	0.621805	0.7519	0.6081	5008	,	,		14955	0.4861		0.6531	False		,,,				2504	0.5634															0								G	LEU/PRO,	3137,1143		1169,799,172	16	21	19		839,	-1.1	0	21	dbSNP_79	19	5643,2789		1911,1821,484	no	missense,intron	TSPEAR,KRTAP10-1	NM_198691.2,NM_144991.2	98,	3080,2620,656	AA,AG,GG		33.0764,26.7056,30.9314	probably-damaging,	280/283,	45959195	8780,3932	2140	4216	6356	SO:0001583	missense	386677			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.839C>T	21.37:g.45959195G>A	ENSP00000383226:p.Pro280Leu		Q0VAR0|Q0VAR1	Missense_Mutation	SNP	ENST00000400375.1	37	CCDS42954.1	1309	0.5993589743589743	333	0.676829268292683	238	0.6574585635359116	276	0.4825174825174825	462	0.6094986807387863	a	0.384	-0.927214	0.02377	0.732944	0.669236	ENSG00000215455	ENST00000400375	T	0.00816	5.66	3.28	-1.15	0.09709	.	.	.	.	.	T	0.00012	0.0000	L	0.42581	1.335	0.80722	P	0.0	D	0.54047	0.964	B	0.42522	0.39	T	0.02901	-1.1096	8	0.33141	T	0.24	.	4.1151	0.10077	0.2988:0.0:0.5346:0.1666	rs233316	280	P60331	KR101_HUMAN	L	280	ENSP00000383226:P280L	ENSP00000383226:P280L	P	-	2	0	KRTAP10-1	44783623	0.001000	0.12720	0.000000	0.03702	0.056000	0.15407	-0.233000	0.09041	-0.403000	0.07622	-0.186000	0.12905	CCG		0.721	KRTAP10-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128030.1			A	45959195	G	A	45959195	3	1	726	1	0	0	0	0	1	0	0	0	8507	1116	39	1	13	1	KRTAP10-1	21	45959195	Missense_Mutation	SNP	G	TCGA-KN-8419-01A-11D-2310-10		45959195	2170700	60	40836											
PI4KA	5297	mdanderson.org	37	22	21088357	21088357	+	Silent	SNP	G	G	A			TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr22:21088357G>A	ENST00000572273.1	-	34	4082	c.3852C>T	c.(3850-3852)caC>caT	p.H1284H	PI4KA_ENST00000255882.6_Silent_p.H1342H|PI4KA_ENST00000414196.3_Silent_p.H94H			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1284					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)			TGGCCGCCACGTGCCGGTTCA	0.637																																					GBM(136;1332 1831 3115 23601 50806)											0													21	19	19					22																	21088357		2198	4289	6487	SO:0001819	synonymous_variant	5297			L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.3852C>T	22.37:g.21088357G>A			Q7Z625|Q9UPG2	Silent	SNP	ENST00000572273.1	37																																																																																					0.637	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		A	21088357	G	A	21088357	2	1	726	1	0	0	0	0	0	0	0	1	11875	1136	40	1		1	PI4KA	22	21088357	Silent	SNP	G	TCGA-KN-8419-01A-11D-2310-10		21088357	30216209	61	40837											
OSBP2	23762	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	22	31266429	31266429	+	Silent	SNP	C	C	T	rs376288614		TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr22:31266429C>T	ENST00000332585.6	+	3	971	c.867C>T	c.(865-867)gaC>gaT	p.D289D	OSBP2_ENST00000437268.2_Silent_p.D31D|OSBP2_ENST00000403222.3_Silent_p.D124D|OSBP2_ENST00000401475.1_5'UTR|OSBP2_ENST00000446658.2_Silent_p.D289D|OSBP2_ENST00000382310.3_Silent_p.D289D|OSBP2_ENST00000407373.1_Silent_p.D116D	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	289					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						ACTCTGGGGACGACGACGAGG	0.557																																																0								C		1,4199		0,1,2099	63	65	65		867	-0.7	1	22		65	1,8441		0,1,4220	no	coding-synonymous	OSBP2	NM_030758.3		0,2,6319	TT,TC,CC		0.0118,0.0238,0.0158		289/917	31266429	2,12640	2100	4221	6321	SO:0001819	synonymous_variant	23762				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.867C>T	22.37:g.31266429C>T			B0QYG1|B4DK24|B4DKE4|B4DTR3|F5H2A3|O60396|Q0VF99|Q8NA37|Q9BY96|Q9BZF0	Silent	SNP	ENST00000332585.6	37	CCDS43002.1																																																																																				0.557	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321547.2	NM_030758		T	31266429	C	T	31266429	2	4	726	1	0	0	0	0	0	0	0	1	11276	535	19	1		1	OSBP2	22	31266429	Silent	SNP	C	TCGA-KN-8419-01A-11D-2310-10	10178072	31266429	20038137	62	40838											
SSTR3	6753	hgsc.bcm.edu	37	22	37603327	37603327	+	Silent	SNP	G	G	A	rs141903633	byFrequency	TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr22:37603327G>A	ENST00000328544.3	-	2	1049	c.516C>T	c.(514-516)gcC>gcT	p.A172A	SSTR3_ENST00000402501.1_Silent_p.A172A	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	172					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)	GCACCACCACGGCTGAGGCCA	0.741													G|||	15	0.00299521	0.0106	0.0	5008	,	,		13508	0.001		0.0	False		,,,				2504	0.0															0								G		33,4367		0,33,2167	24	26	25		516	-11.3	0.1	22	dbSNP_134	25	1,8571		0,1,4285	no	coding-synonymous	SSTR3	NM_001051.2		0,34,6452	AA,AG,GG		0.0117,0.75,0.2621		172/419	37603327	34,12938	2200	4286	6486	SO:0001819	synonymous_variant	6753				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.516C>T	22.37:g.37603327G>A			A8K550|Q53ZR7	Silent	SNP	ENST00000328544.3	37	CCDS13944.1																																																																																				0.741	SSTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318802.1			A	37603327	G	A	37603327	2	1	726	1	0	0	0	0	0	0	0	1	15204	1103	39	1		1	SSTR3	22	37603327	Silent	SNP	G	TCGA-KN-8419-01A-11D-2310-10	6336898	37603327	13701239	63	40839											
TYMP	1890	mdanderson.org	37	22	50965102	50965102	+	Silent	SNP	C	C	T	rs8141558	byFrequency	TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr22:50965102C>T	ENST00000252029.3	-	7	993	c.831G>A	c.(829-831)ctG>ctA	p.L277L	TYMP_ENST00000395678.3_Silent_p.L277L|SCO2_ENST00000252785.3_5'Flank|SCO2_ENST00000543927.1_5'Flank|TYMP_ENST00000395680.1_Silent_p.L277L|CTA-384D8.36_ENST00000608319.1_RNA|SCO2_ENST00000535425.1_5'Flank|TYMP_ENST00000395681.1_Silent_p.L277L|SCO2_ENST00000395693.3_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	277					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)	CGCAGCGACCCAGGGGCTTGT	0.711													C|||	177	0.0353435	0.1256	0.0159	5008	,	,		12653	0.0		0.0	False		,,,				2504	0.0															0								C	,,	381,3875		17,347,1764	8	8	8		831,831,831	4.6	0.7	22	dbSNP_116	8	10,8426		0,10,4208	no	coding-synonymous,coding-synonymous,coding-synonymous	TYMP	NM_001113755.1,NM_001113756.1,NM_001953.3	,,	17,357,5972	TT,TC,CC		0.1185,8.9521,3.0807	,,	277/483,277/483,277/483	50965102	391,12301	2128	4218	6346	SO:0001819	synonymous_variant	1890			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.831G>A	22.37:g.50965102C>T			A8MW15|H9KVA0|Q13390|Q8WVB7	Silent	SNP	ENST00000252029.3	37	CCDS14096.1																																																																																				0.711	TYMP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317081.1	NM_001953		T	50965102	C	T	50965102	2	4	726	1	0	0	0	0	0	0	0	1	16816	581	21	2		2	TYMP	22	50965102	Silent	SNP	C	TCGA-KN-8419-01A-11D-2310-10	13361775	50965102	339464	64	40840											
NUDT10	170685	broad.mit.edu	37	X	51076024	51076024	+	Silent	SNP	G	G	A	rs143435240		TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	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)											8	Substitution - coding silent(8)	endometrium(5)|cervix(1)|prostate(1)|lung(1)											52	62	59					X																	51076024		2203	4300	6503	SO:0001819	synonymous_variant	170685			AF469196	CCDS35278.1	Xp11.22-p11.1	2014-05-20			ENSG00000122824	ENSG00000122824		"Nudix motif containing"	17621	protein-coding gene	gene with protein product		300527				12105228	Standard	NM_153183		Approved	DIPP3a, hDIPP3alpha	uc004dph.3	Q8NFP7	OTTHUMG00000021530	ENST00000376006.3:c.207G>A	X.37:g.51076024G>A			Q8NBN1|Q8NCB9|Q8NG25	Silent	SNP	ENST00000376006.3	37	CCDS35278.1																																																																																				0.657	NUDT10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056578.1	NM_153183		A	51076024	G	A	51076024	2	1	726	1	0	0	0	0	0	0	0	1	10728	991	35	2		2	NUDT10	23	51076024	Silent	SNP	G	TCGA-KN-8419-01A-11D-2310-10		51076024	104194536	65	40841											
HCRTR1	3061	ucsc.edu	37	1	32085198	32085198	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr1:32085198T>C	ENST00000373706.5	+	2	418	c.265T>C	c.(265-267)Tcc>Ccc	p.S89P	HCRTR1_ENST00000373705.1_Missense_Mutation_p.S89P|HCRTR1_ENST00000403528.2_Missense_Mutation_p.S89P|HCRTR1_ENST00000468521.1_Intron			O43613	OX1R_HUMAN	hypocretin (orexin) receptor 1	89					feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|orexin receptor activity (GO:0016499)|peptide hormone binding (GO:0017046)			breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		TGTCAACCTGTCCCTGGCTGA	0.602																																																0													140	99	113					1																	32085198		2203	4299	6502	SO:0001583	missense	3061			AF041243	CCDS344.1	1p33	2012-08-08			ENSG00000121764	ENSG00000121764		"GPCR / Class A : Hypocretin (orexin) receptors"	4848	protein-coding gene	gene with protein product		602392				9491897	Standard	NM_001525		Approved	OX1R	uc009vtx.2	O43613	OTTHUMG00000003876	ENST00000373706.5:c.265T>C	1.37:g.32085198T>C	ENSP00000362810:p.Ser89Pro		A8K3A6|Q9HBV6	Missense_Mutation	SNP	ENST00000373706.5	37	CCDS344.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.124151	0.77436	.	.	ENSG00000121764	ENST00000403528;ENST00000373706;ENST00000373705	T;T;T	0.12255	2.7;2.7;2.7	4.45	4.45	0.53987	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.43033	0.1229	M	0.89840	3.065	0.45129	D	0.998146	D;D	0.76494	0.999;0.999	D;D	0.77557	0.99;0.98	T	0.52786	-0.8529	10	0.87932	D	0	.	12.31	0.54924	0.0:0.0:0.0:1.0	.	89;89	A6NMV7;O43613	.;OX1R_HUMAN	P	89	ENSP00000384387:S89P;ENSP00000362810:S89P;ENSP00000362809:S89P	ENSP00000362809:S89P	S	+	1	0	HCRTR1	31857785	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	7.645000	0.83430	1.931000	0.55961	0.533000	0.62120	TCC		0.602	HCRTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011042.1	NM_001525		C	32085198	T	C	32085198	3	2	727	1	0	0	0	0	1	0	0	0	7003	1667	58	3	271	3	HCRTR1	1	32085198	Missense_Mutation	SNP	T	TCGA-KN-8421-01A-11D-2310-10		32085198	217165423	1	40842											
ZC3H12A	80149	ucsc.edu;bcgsc.ca	37	1	37947246	37947246	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr1:37947246T>C	ENST00000373087.6	+	4	744	c.628T>C	c.(628-630)Ttc>Ctc	p.F210L		NM_025079.2	NP_079355.2			zinc finger CCCH-type containing 12A											NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GATCCTGGTGTTCACACCATC	0.592																																																0													236	213	221					1																	37947246		2203	4300	6503	SO:0001583	missense	80149				CCDS417.1	1p34.3	2012-07-05			ENSG00000163874	ENSG00000163874		"Zinc fingers, CCCH-type domain containing"	26259	protein-coding gene	gene with protein product	"MCP induced protein 1"	610562				18178554, 22055188	Standard	NM_025079		Approved	FLJ23231, MCPIP1	uc001cbb.4	Q5D1E8	OTTHUMG00000004221	ENST00000373087.6:c.628T>C	1.37:g.37947246T>C	ENSP00000362179:p.Phe210Leu			Missense_Mutation	SNP	ENST00000373087.6	37	CCDS417.1	.	.	.	.	.	.	.	.	.	.	T	35	5.467320	0.96257	.	.	ENSG00000163874	ENST00000373087;ENST00000373082	T	0.39787	1.06	5.42	5.42	0.78866	Ribonuclease Zc3h12a-like (1);	0.000000	0.85682	D	0.000000	T	0.59676	0.2211	M	0.61703	1.905	0.80722	D	1	P	0.49447	0.924	P	0.61397	0.888	T	0.60005	-0.7347	10	0.48119	T	0.1	-30.0237	15.4665	0.75406	0.0:0.0:0.0:1.0	.	210	Q5D1E8	ZC12A_HUMAN	L	210	ENSP00000362179:F210L	ENSP00000362174:F210L	F	+	1	0	ZC3H12A	37719833	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.991000	0.88244	2.054000	0.61138	0.459000	0.35465	TTC		0.592	ZC3H12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012154.2	NM_025079		C	37947246	T	C	37947246	3	2	727	1	0	0	0	0	1	0	0	0	17566	1725	60	3	638	3	ZC3H12A	1	37947246	Missense_Mutation	SNP	T	TCGA-KN-8421-01A-11D-2310-10	5862048	37947246	211303375	2	40843											
DNASE2B	58511	broad.mit.edu;mdanderson.org	37	1	84876612	84876612	+	Silent	SNP	A	A	T			TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr1:84876612A>T	ENST00000370665.3	+	4	510	c.477A>T	c.(475-477)ccA>ccT	p.P159P	DNASE2B_ENST00000370662.3_5'UTR	NM_021233.2	NP_067056.2	Q8WZ79	DNS2B_HUMAN	deoxyribonuclease II beta	159					apoptotic DNA fragmentation (GO:0006309)	extracellular region (GO:0005576)|intracellular (GO:0005622)|lysosome (GO:0005764)	deoxyribonuclease II activity (GO:0004531)			endometrium(1)|lung(4)|skin(1)	6				all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)		ATGATTATCCACCCACAGGGA	0.428																																					Pancreas(54;788 1175 11852 16034 30034)											0													89	83	85					1																	84876612		1904	4127	6031	SO:0001819	synonymous_variant	58511			AF274571	CCDS694.1, CCDS44167.1	1p22.3	2008-02-05			ENSG00000137976	ENSG00000137976			28875	protein-coding gene	gene with protein product		608057				12594037, 11376952	Standard	NM_021233		Approved	DLAD	uc001djt.1	Q8WZ79	OTTHUMG00000009860	ENST00000370665.3:c.477A>T	1.37:g.84876612A>T			Q5VXD0|Q5VXD1|Q8WZ80|Q9NQW3	Silent	SNP	ENST00000370665.3	37	CCDS44167.1																																																																																				0.428	DNASE2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000027248.1	NM_021233		T	84876612	A	T	84876612	2	4	727	1	0	0	0	0	0	0	0	1	4667	146	6	5		5	DNASE2B	1	84876612	Silent	SNP	A	TCGA-KN-8421-01A-11D-2310-10	46929366	84876612	164374009	3	40844											
STX6	10228	hgsc.bcm.edu;ucsc.edu	37	1	180945772	180945772	+	Silent	SNP	T	T	C			TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr1:180945772T>C	ENST00000258301.5	-	8	939	c.702A>G	c.(700-702)caA>caG	p.Q234Q	RP11-46A10.5_ENST00000358073.2_RNA|STX6_ENST00000542060.1_Silent_p.Q133Q|STX6_ENST00000469135.1_5'UTR|AL162431.1_ENST00000457152.2_Intron	NM_005819.4	NP_005810.1	O43752	STX6_HUMAN	syntaxin 6	234					endosome organization (GO:0007032)|Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle fusion (GO:0006906)	clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|trans-Golgi network membrane (GO:0032588)	SNAP receptor activity (GO:0005484)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	10						TGGCACACCATTGGCGCCGAT	0.532																																																0													149	119	129					1																	180945772		2203	4300	6503	SO:0001819	synonymous_variant	10228			AJ002078	CCDS1341.1, CCDS65738.1	1q25.3	2008-02-05			ENSG00000135823	ENSG00000135823			11441	protein-coding gene	gene with protein product		603944				10080545	Standard	XM_005244824		Approved		uc021pfr.1	O43752	OTTHUMG00000035179	ENST00000258301.5:c.702A>G	1.37:g.180945772T>C			B2R652|B4DR17|Q5VY08|Q6FH83	Silent	SNP	ENST00000258301.5	37	CCDS1341.1																																																																																				0.532	STX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085143.1	NM_005819		C	180945772	T	C	180945772	2	2	727	1	0	0	0	0	0	0	0	1	15354	1490	52	3		3	STX6	1	180945772	Silent	SNP	T	TCGA-KN-8421-01A-11D-2310-10	96069160	180945772	68304849	4	40845											
PRKD3	23683	broad.mit.edu	37	2	37483813	37483813	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr2:37483813delG	ENST00000379066.1	-	17	3167	c.2405delC	c.(2404-2406)tctfs	p.S802fs	PRKD3_ENST00000234179.2_Frame_Shift_Del_p.S802fs			O94806	KPCD3_HUMAN	protein kinase D3	802	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				ACCTTCACCAGAAATTTCTCT	0.323																																					Melanoma(80;621 1355 8613 11814 51767)											0													56	54	54					2																	37483813		2203	4300	6503	SO:0001589	frameshift_variant	23683			AB015982	CCDS1789.1	2p21	2013-01-10	2004-10-28	2004-10-30	ENSG00000115825	ENSG00000115825		"Pleckstrin homology (PH) domain containing"	9408	protein-coding gene	gene with protein product		607077	"protein kinase C, nu"	PRKCN		10231560	Standard	NM_005813		Approved	EPK2	uc002rqd.3	O94806	OTTHUMG00000100961	ENST00000379066.1:c.2405delC	2.37:g.37483813delG	ENSP00000368356:p.Ser802fs		D6W587|Q53TR7|Q8NEL8	Frame_Shift_Del	DEL	ENST00000379066.1	37	CCDS1789.1																																																																																				0.323	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218570.3	NM_005813		-	37483813	G	-	37483813	7	5	727	1	0	1	0	1	0	0	0	0	12525	942	33	0	279	0	PRKD3	2	37483813	Frame_Shift_Del	DEL	G	TCGA-KN-8421-01A-11D-2310-10		37483813	205715560	5	40846											
CCDC85A	114800	broad.mit.edu;mdanderson.org	37	2	56420144	56420144	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr2:56420144G>A	ENST00000407595.2	+	2	1311	c.809G>A	c.(808-810)cGc>cAc	p.R270H	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	270	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)			ACCCCAGATCGCCCCAAAGCA	0.652																																																0													42	56	52					2																	56420144		1996	4190	6186	SO:0001583	missense	114800			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.809G>A	2.37:g.56420144G>A	ENSP00000384040:p.Arg270His			Missense_Mutation	SNP	ENST00000407595.2	37	CCDS46290.1	.	.	.	.	.	.	.	.	.	.	G	2.918	-0.223868	0.06061	.	.	ENSG00000055813	ENST00000407595	T	0.45668	0.89	5.35	3.0	0.34707	.	0.137823	0.64402	N	0.000003	T	0.13329	0.0323	N	0.01209	-0.955	0.80722	D	1	B	0.06786	0.001	B	0.01281	0.0	T	0.09335	-1.0679	10	0.08599	T	0.76	-6.8881	9.1145	0.36748	0.8509:0.0:0.1491:0.0	.	270	Q96PX6	CC85A_HUMAN	H	270	ENSP00000384040:R270H	ENSP00000384040:R270H	R	+	2	0	CCDC85A	56273648	0.999000	0.42202	0.998000	0.56505	0.944000	0.59088	1.851000	0.39338	0.881000	0.35993	-0.312000	0.09012	CGC		0.652	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324993.1			A	56420144	G	A	56420144	3	1	727	1	0	0	0	0	1	0	0	0	2861	1087	38	1	815	1	CCDC85A	2	56420144	Missense_Mutation	SNP	G	TCGA-KN-8421-01A-11D-2310-10	18936331	56420144	186779229	6	40847											
RAB11FIP5	26056	mdanderson.org	37	2	73316240	73316240	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr2:73316240A>G	ENST00000258098.6	-	2	875	c.635T>C	c.(634-636)cTc>cCc	p.L212P	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	212					cellular response to acidic pH (GO:0071468)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|regulation of protein localization to cell surface (GO:2000008)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						GCTGCTTGGGAGGATGGCAGA	0.557																																																0													176	166	170					2																	73316240		2203	4300	6503	SO:0001583	missense	26056			AF334812	CCDS1923.1	2p13	2008-02-05			ENSG00000135631	ENSG00000135631			24845	protein-coding gene	gene with protein product		605536				10048485, 11163216	Standard	NM_015470		Approved	GAF1, KIAA0857, RIP11, pp75	uc002sis.4	Q9BXF6	OTTHUMG00000129779	ENST00000258098.6:c.635T>C	2.37:g.73316240A>G	ENSP00000258098:p.Leu212Pro		O94939|Q9P0M1	Missense_Mutation	SNP	ENST00000258098.6	37	CCDS1923.1	.	.	.	.	.	.	.	.	.	.	A	18.11	3.551239	0.65311	.	.	ENSG00000135631	ENST00000258098	T	0.33865	1.39	4.77	3.62	0.41486	.	0.190105	0.37304	N	0.002149	T	0.42063	0.1186	L	0.39898	1.24	0.58432	D	0.999999	D;D	0.63880	0.989;0.993	P;P	0.59288	0.726;0.855	T	0.14952	-1.0454	10	0.38643	T	0.18	-20.2281	9.4493	0.38717	0.9148:0.0:0.0852:0.0	.	212;212	Q9BXF6;Q2Z1P3	RFIP5_HUMAN;.	P	212	ENSP00000258098:L212P	ENSP00000258098:L212P	L	-	2	0	RAB11FIP5	73169748	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	9.139000	0.94554	0.976000	0.38417	0.459000	0.35465	CTC		0.557	RAB11FIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251995.1	NM_015470		G	73316240	A	G	73316240	3	3	727	1	0	0	0	0	1	0	0	0	12903	304	11	3	1342	3	RAB11FIP5	2	73316240	Missense_Mutation	SNP	A	TCGA-KN-8421-01A-11D-2310-10	16896096	73316240	169883133	7	40848											
R3HDM1	23518	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	2	136473266	136473266	+	Splice_Site	SNP	T	T	A			TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr2:136473266T>A	ENST00000264160.4	+	23	3146		c.e23+2		R3HDM1_ENST00000410054.1_Splice_Site|R3HDM1_ENST00000329971.3_Splice_Site|R3HDM1_ENST00000409478.1_Splice_Site|R3HDM1_ENST00000409606.1_Splice_Site	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1								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)		CCGGGCAAGGTAAGTGCACAT	0.443																																																0													138	120	126					2																	136473266		2203	4300	6503	SO:0001630	splice_region_variant	23518			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.2776+2T>A	2.37:g.136473266T>A			A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Splice_Site	SNP	ENST00000264160.4	37	CCDS2177.1	.	.	.	.	.	.	.	.	.	.	T	17.30	3.355569	0.61293	.	.	ENSG00000048991	ENST00000409478;ENST00000264160;ENST00000329971;ENST00000410054;ENST00000409606;ENST00000429703	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.352	0.74396	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	R3HDM1	136189736	1.000000	0.71417	0.998000	0.56505	0.483000	0.33249	7.603000	0.82811	2.026000	0.59711	0.379000	0.24179	.		0.443	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254659.1	NM_015361	Intron	A	136473266	T	A	136473266	5	1	727	1	0	0	0	0	0	0	1	0	12893	1652	57	5	2860	5	R3HDM1	2	136473266	Splice_Site	SNP	T	TCGA-KN-8421-01A-11D-2310-10	63157026	136473266	106726107	8	40849											
PRPF40A	151188	hgsc.bcm.edu;ucsc.edu	37	2	153573942	153573942	+	5'Flank	SNP	G	G	A			TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr2:153573942G>A	ENST00000326446.5	+	0	0				PRPF40A_ENST00000486100.1_5'UTR|PRPF40A_ENST00000410080.1_Silent_p.G4G	NM_152522.5	NP_689735.1	Q8N6S5	AR6P6_HUMAN	ADP-ribosylation factor-like 6 interacting protein 6							integral component of membrane (GO:0016021)				kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	5						GGCGGCCACTGCCGCTACACA	0.652																																																0													33	40	38					2																	153573942		1956	4148	6104	SO:0001631	upstream_gene_variant	55660			AK023109	CCDS2197.1	2q23	2014-05-12	2014-05-12		ENSG00000177917	ENSG00000177917			24048	protein-coding gene	gene with protein product							Standard	NM_152522		Approved	MGC33864	uc002tyn.3	Q8N6S5	OTTHUMG00000131901		2.37:g.153573942G>A	Exception_encountered		B2RDS6|Q7Z4G7	Silent	SNP	ENST00000326446.5	37	CCDS2197.1																																																																																				0.652	ARL6IP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254852.3	NM_152522		A	153573942	G	A	153573942	1	1	727	0	1	0	0	0	0	0	0	0	12576	1306	46	2		2	PRPF40A	2	153573942	5'Flank	SNP	G	TCGA-KN-8421-01A-11D-2310-10	17100676	153573942	89625431	9	40850											
SCN3A	6328	broad.mit.edu;mdanderson.org	37	2	165987817	165987817	+	Silent	SNP	G	G	T			TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr2:165987817G>T	ENST00000360093.3	-	16	2993	c.2502C>A	c.(2500-2502)ctC>ctA	p.L834L	SCN3A_ENST00000283254.7_Silent_p.L834L|SCN3A_ENST00000409101.3_Silent_p.L785L	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	834					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)	CCATTAAACTGAGGCTGACAA	0.403																																																0													115	113	114					2																	165987817		2203	4300	6503	SO:0001819	synonymous_variant	6328			AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10590	protein-coding gene	gene with protein product		182391	"sodium channel, voltage-gated, type III, alpha polypeptide"			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.2502C>A	2.37:g.165987817G>T			Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Silent	SNP	ENST00000360093.3	37																																																																																					0.403	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		T	165987817	G	T	165987817	2	4	727	1	0	0	0	0	0	0	0	1	13924	1277	45	4		4	SCN3A	2	165987817	Silent	SNP	G	TCGA-KN-8421-01A-11D-2310-10	12413875	165987817	77211556	10	40851											
FASTKD1	79675	bcgsc.ca	37	2	170393737	170393737	+	Splice_Site	SNP	C	C	T	rs139576803		TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr2:170393737C>T	ENST00000453153.2	-	12	2534	c.2188G>A	c.(2188-2190)Gat>Aat	p.D730N	FASTKD1_ENST00000453929.2_Splice_Site_p.D687N|FASTKD1_ENST00000495505.1_Intron	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	730					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						AATAACTTACCTACTTTGTGG	0.313																																																0																																										SO:0001630	splice_region_variant	79675			AL832058	CCDS33318.1, CCDS63051.1	2q31.1	2008-02-05			ENSG00000138399	ENSG00000138399			26150	protein-coding gene	gene with protein product						11347906	Standard	NM_024622		Approved	FLJ21901	uc002uev.4	Q53R41	OTTHUMG00000154953	ENST00000453153.2:c.2188+1G>A	2.37:g.170393737C>T			Q8N583|Q8TEA9|Q96JM5|Q96N71|Q9H6T4	Missense_Mutation	SNP	ENST00000453153.2	37	CCDS33318.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.349299	0.82132	.	.	ENSG00000138399	ENST00000453153;ENST00000453929	T;T	0.78126	-1.15;-1.15	5.63	3.78	0.43462	FAST kinase-like protein, subdomain 2 (1);	0.177498	0.64402	D	0.000013	D	0.87111	0.6096	M	0.82716	2.605	0.58432	D	0.99999	D;D	0.71674	0.997;0.998	D;D	0.68353	0.928;0.957	D	0.87499	0.2432	10	0.72032	D	0.01	-0.4604	11.836	0.52323	0.1385:0.7284:0.133:0.0	.	687;730	Q53R41-2;Q53R41	.;FAKD1_HUMAN	N	730;687	ENSP00000400513:D730N;ENSP00000403229:D687N	ENSP00000400513:D730N	D	-	1	0	FASTKD1	170101983	1.000000	0.71417	0.995000	0.50966	0.813000	0.45954	4.060000	0.57477	0.697000	0.31718	0.491000	0.48974	GAT		0.313	FASTKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337788.2	NM_024622	Missense_Mutation	T	170393737	C	T	170393737	5	4	727	1	0	0	0	0	0	0	1	0	5687	695	24	2	371	2	FASTKD1	2	170393737	Splice_Site	SNP	C	TCGA-KN-8421-01A-11D-2310-10	4405920	170393737	72805636	11	40852											
TTN	7273	broad.mit.edu	37	2	179401232	179401232	+	Silent	SNP	C	C	T			TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr2:179401232C>T	ENST00000591111.1	-	307	95543	c.95319G>A	c.(95317-95319)aaG>aaA	p.K31773K	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Silent_p.K24541K|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000342992.6_Silent_p.K30846K|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000589042.1_Silent_p.K33414K|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.K24474K|TTN_ENST00000460472.2_Silent_p.K24349K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000585487.1_RNA			Q8WZ42	TITIN_HUMAN	titin	31773	Fibronectin type-III 131. {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)			TGGCAGGTGGCTTCCAGGCCA	0.403																																																0													68	67	67					2																	179401232		1840	4101	5941	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.95319G>A	2.37:g.179401232C>T			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179401232	C	T	179401232	2	4	727	1	0	0	0	0	0	0	0	1	16740	796	28	2		2	TTN	2	179401232	Silent	SNP	C	TCGA-KN-8421-01A-11D-2310-10	9007495	179401232	63798141	12	40853											
WDR52	55779	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	3	113114596	113114596	+	Splice_Site	SNP	C	C	T			TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr3:113114596C>T	ENST00000295868.2	-	15	2053		c.e15+1		WDR52_ENST00000393845.2_Splice_Site|WDR52_ENST00000475568.1_Splice_Site	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						TAATGACTTACATGAGACATG	0.358																																																0													116	110	112					3																	113114596		2203	4300	6503	SO:0001630	splice_region_variant	55779																														ENST00000295868.2:c.1890+1G>A	3.37:g.113114596C>T				Splice_Site	SNP	ENST00000295868.2	37	CCDS2972.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.988779	0.53934	.	.	ENSG00000206530	ENST00000393845;ENST00000295868	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5256	0.90971	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	WDR52	114597286	1.000000	0.71417	1.000000	0.80357	0.512000	0.34134	6.419000	0.73345	2.719000	0.93026	0.650000	0.86243	.		0.358	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354128.3		Intron	T	113114596	C	T	113114596	5	4	727	1	0	0	0	0	0	0	1	0	17309	492	17	2	3772	2	WDR52	3	113114596	Splice_Site	SNP	C	TCGA-KN-8421-01A-11D-2310-10		113114596	84907834	13	40854											
TLR1	7096	hgsc.bcm.edu	37	4	38798159	38798159	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr4:38798159C>T	ENST00000502213.2	-	3	2523	c.2294G>A	c.(2293-2295)cGt>cAt	p.R765H	TLR1_ENST00000308979.2_Missense_Mutation_p.R765H|TLR1_ENST00000510552.1_5'Flank			Q15399	TLR1_HUMAN	toll-like receptor 1	765	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				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)	p.R765H(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						AAAAAGGCCACGTTTGCTCTT	0.423																																					GBM(5;216 373 40795 46382)											1	Substitution - Missense(1)	lung(1)											93	87	89					4																	38798159		2203	4300	6503	SO:0001583	missense	7096			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.2294G>A	4.37:g.38798159C>T	ENSP00000421259:p.Arg765His		D1CS39|D1CS41|O15452|Q32MK3|Q32MK4|Q9UG90	Missense_Mutation	SNP	ENST00000502213.2	37	CCDS33973.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.890829	0.00527	.	.	ENSG00000174125	ENST00000308979;ENST00000502213	D;D	0.83419	-1.72;-1.72	5.1	1.3	0.21679	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.370723	0.25369	N	0.031163	T	0.61362	0.2341	N	0.12831	0.26	0.31308	N	0.687515	B	0.02656	0.0	B	0.01281	0.0	T	0.53129	-0.8482	10	0.02654	T	1	.	9.444	0.38686	0.0:0.2814:0.0:0.7186	.	765	Q15399	TLR1_HUMAN	H	765	ENSP00000354932:R765H;ENSP00000421259:R765H	ENSP00000354932:R765H	R	-	2	0	TLR1	38474554	0.768000	0.28519	0.998000	0.56505	0.163000	0.22366	1.128000	0.31369	0.073000	0.16731	-1.166000	0.01754	CGT		0.423	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360510.3			T	38798159	C	T	38798159	3	4	727	1	0	0	0	0	1	0	0	0	15954	536	19	1	70	1	TLR1	4	38798159	Missense_Mutation	SNP	C	TCGA-KN-8421-01A-11D-2310-10		38798159	152356117	14	40855											
DSPP	1834	mdanderson.org	37	4	88537088	88537088	+	Missense_Mutation	SNP	A	A	G	rs201754564	byFrequency	TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr4:88537088A>G	ENST00000282478.7	+	4	3307	c.3274A>G	c.(3274-3276)Aat>Gat	p.N1092D	DSPP_ENST00000399271.1_Missense_Mutation_p.N1092D|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1092	Asp/Ser-rich.			Missing (in Ref. 1; AAF42472 and 3; AAD16120). {ECO:0000305}.	biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		tgacagcagcaatagcagtga	0.542													G|||	3443	0.6875	0.8207	0.7291	5008	,	,		11661	0.6498		0.671	False		,,,				2504	0.5337															0													20	29	26					4																	88537088		783	1640	2423	SO:0001583	missense	1834			AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3274A>G	4.37:g.88537088A>G	ENSP00000282478:p.Asn1092Asp		A8MUI0|O95815	Missense_Mutation	SNP	ENST00000282478.7	37	CCDS43248.1	.	.	.	.	.	.	.	.	.	.	g	2.684	-0.274594	0.05679	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.87887	-2.31;-2.31	1.51	-0.39	0.12450	.	.	.	.	.	T	0.62466	0.2430	N	0.02539	-0.55	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.54456	-0.8291	8	0.07644	T	0.81	.	5.2031	0.15275	0.5656:0.0:0.4344:0.0	.	1092	Q9NZW4	DSPP_HUMAN	D	1092	ENSP00000382213:N1092D;ENSP00000282478:N1092D	ENSP00000282478:N1092D	N	+	1	0	DSPP	88756112	0.033000	0.19621	0.000000	0.03702	0.001000	0.01503	-0.014000	0.12656	-0.601000	0.05783	-2.064000	0.00396	AAT		0.542	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		G	88537088	A	G	88537088	3	3	727	1	0	0	0	0	1	0	0	0	4784	130	5	3	3288	3	DSPP	4	88537088	Missense_Mutation	SNP	A	TCGA-KN-8421-01A-11D-2310-10	49738929	88537088	102617188	15	40856											
POMZP3	22932	mdanderson.org	37	7	76255328	76255328	+	Silent	SNP	C	C	T	rs199608185		TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr7:76255328C>T	ENST00000310842.4	-	2	738	c.54G>A	c.(52-54)tcG>tcA	p.S18S	UPK3B_ENST00000443097.2_Intron|UPK3B_ENST00000419923.2_Intron|POMZP3_ENST00000275569.4_Silent_p.S18S|AC004980.7_ENST00000418663.1_RNA	NM_012230.3	NP_036362.3	Q6PJE2	POZP3_HUMAN	POM121 and ZP3 fusion	18										kidney(3)|lung(2)	5		Myeloproliferative disorder(862;0.204)				TCGCAGAACGCGAAAATCTTC	0.483																																																0													106	78	87					7																	76255328		2202	4300	6502	SO:0001819	synonymous_variant	22932			U10099	CCDS5590.1, CCDS43606.1	7q11.2	2010-06-24	2010-06-24		ENSG00000146707	ENSG00000146707			9203	protein-coding gene	gene with protein product	"POM-ZP3 fusion protein", "POM121/ZP3 fusion protein"	600587	"POM (POM121 rat homolog) and ZP3 fusion", "POM (POM121 homolog, rat) and ZP3 fusion"			7789967	Standard	NM_012230		Approved	POM-ZP3, POM121	uc003uft.3	Q6PJE2	OTTHUMG00000023514	ENST00000310842.4:c.54G>A	7.37:g.76255328C>T			F6STJ3|Q12903|Q9BWB4	Silent	SNP	ENST00000310842.4	37	CCDS43606.1																																																																																				0.483	POMZP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341775.1	NM_012230		T	76255328	C	T	76255328	2	4	727	1	0	0	0	0	0	0	0	1	12249	755	27	1		1	POMZP3	7	76255328	Silent	SNP	C	TCGA-KN-8421-01A-11D-2310-10		76255328	82883335	16	40857											
PCLO	27445	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	7	82579951	82579951	+	Missense_Mutation	SNP	T	T	C	rs376865880		TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr7:82579951T>C	ENST00000333891.9	-	6	10290	c.9953A>G	c.(9952-9954)tAt>tGt	p.Y3318C	PCLO_ENST00000423517.2_Missense_Mutation_p.Y3318C|PCLO_ENST00000437081.1_Missense_Mutation_p.Y38C	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						GTCATAGTTATACTGGTAGAT	0.483																																																0								T	CYS/TYR,CYS/TYR	1,3899		0,1,1949	136	126	129		9953,9953	5.3	1	7		129	0,8304		0,0,4152	no	missense,missense	PCLO	NM_014510.2,NM_033026.5	194,194	0,1,6101	CC,CT,TT		0.0,0.0256,0.0082	probably-damaging,probably-damaging	3318/4936,3318/5143	82579951	1,12203	1950	4152	6102	SO:0001583	missense	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.9953A>G	7.37:g.82579951T>C	ENSP00000334319:p.Tyr3318Cys			Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	T	13.49	2.253482	0.39797	2.56E-4	0.0	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517;ENST00000437081	T;T;T	0.35236	2.26;2.26;1.32	5.29	5.29	0.74685	.	.	.	.	.	T	0.56499	0.1989	L	0.59436	1.845	0.40882	D	0.984007	D;D;D	0.89917	0.999;1.0;1.0	P;D;D	0.73380	0.887;0.98;0.98	T	0.61397	-0.7071	9	0.87932	D	0	.	15.5102	0.75776	0.0:0.0:0.0:1.0	.	3249;3318;3318	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	C	3249;3318;3318;38	ENSP00000334319:Y3318C;ENSP00000388393:Y3318C;ENSP00000393760:Y38C	ENSP00000334319:Y3318C	Y	-	2	0	PCLO	82417887	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.672000	0.74477	2.128000	0.65567	0.460000	0.39030	TAT		0.483	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		C	82579951	T	C	82579951	3	2	727	1	0	0	0	0	1	0	0	0	11585	1406	49	3	5572	3	PCLO	7	82579951	Missense_Mutation	SNP	T	TCGA-KN-8421-01A-11D-2310-10	6324623	82579951	76558712	17	40858											
C7orf51	222950	broad.mit.edu	37	7	100087171	100087171	+	Silent	SNP	C	C	A	rs141655359	byFrequency	TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr7:100087171C>A	ENST00000300179.2	+	4	1986	c.1827C>A	c.(1825-1827)atC>atA	p.I609I	NYAP1_ENST00000423930.1_Silent_p.I609I|NYAP1_ENST00000454988.1_Silent_p.I552I	NM_173564.2	NP_775835.2	Q6ZVC0	NYAP1_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	609					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)			p.I609I(1)									CCCACGTCATCGCCAGCGCAG	0.642																																																1	Substitution - coding silent(1)	lung(1)											44	47	46					7																	100087171		2203	4299	6502	SO:0001819	synonymous_variant	222950			AK094857	CCDS5696.1	7q22.1	2011-11-30	2011-11-30	2011-11-30	ENSG00000166924	ENSG00000166924			22009	protein-coding gene	gene with protein product		615477	"chromosome 7 open reading frame 51", "KIAA1486-like"	C7orf51, KIAA1486L		21946561	Standard	NM_173564		Approved	FLJ37538	uc003uvd.2	Q6ZVC0	OTTHUMG00000155290	ENST00000300179.2:c.1827C>A	7.37:g.100087171C>A			Q6U9Y3|Q8N1V0	Silent	SNP	ENST00000300179.2	37	CCDS5696.1																																																																																				0.642	NYAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339335.2	NM_173564		A	100087171	C	A	100087171	2	1	727	1	0	0	0	0	0	0	0	1	2402	874	31	4		4	C7orf51	7	100087171	Silent	SNP	C	TCGA-KN-8421-01A-11D-2310-10	17507220	100087171	59051492	18	40859											
FAM86B1	85002	mdanderson.org	37	8	12044010	12044010	+	Missense_Mutation	SNP	C	C	T	rs201876260	byFrequency	TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr8:12044010C>T	ENST00000448228.2	-	5	540	c.491G>A	c.(490-492)cGa>cAa	p.R164Q	FAM86B1_ENST00000321602.8_Intron|FAM86B1_ENST00000534520.1_Intron|FAM86B1_ENST00000533513.1_3'UTR|FAM86B1_ENST00000533852.2_Missense_Mutation_p.R198Q	NM_001083537.1	NP_001077006.1	Q8N7N1	F86B1_HUMAN	family with sequence similarity 86, member B1	164										kidney(1)|prostate(1)|stomach(1)	3			STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.0965)		GACATTCCCTCGGAGCTGCTC	0.617																																																0													39	43	42					8																	12044010		1489	2646	4135	SO:0001583	missense	85002			BC007983	CCDS59512.1	8p23.1	2014-02-12	2005-08-19		ENSG00000186523	ENSG00000186523			28268	protein-coding gene	gene with protein product						12477932	Standard	NM_001083537		Approved	MGC16279	uc010lse.3	Q8N7N1	OTTHUMG00000165298	ENST00000448228.2:c.491G>A	8.37:g.12044010C>T	ENSP00000407067:p.Arg164Gln			Missense_Mutation	SNP	ENST00000448228.2	37	CCDS59512.1	.	.	.	.	.	.	.	.	.	.	-	11.09	1.537041	0.27475	.	.	ENSG00000186523	ENST00000431227;ENST00000448228;ENST00000526708	T	0.20881	2.04	1.17	1.17	0.20885	.	.	.	.	.	T	0.12689	0.0308	L	0.33624	1.015	0.80722	D	1	B;B	0.32573	0.376;0.123	B;B	0.28385	0.089;0.046	T	0.13124	-1.0521	9	0.24483	T	0.36	.	8.2654	0.31810	0.0:1.0:0.0:0.0	.	164;198	Q8N7N1;E9PN63	F86B1_HUMAN;.	Q	198;164;198	ENSP00000407067:R164Q	ENSP00000444227:R198Q	R	-	2	0	FAM86B1	12081419	0.000000	0.05858	0.202000	0.23494	0.276000	0.26787	-0.432000	0.06956	0.950000	0.37743	0.173000	0.16961	CGA		0.617	FAM86B1-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000383317.1	NM_032916		T	12044010	C	T	12044010	3	4	727	1	0	0	0	0	1	0	0	0	5646	884	31	1	411	1	FAM86B1	8	12044010	Missense_Mutation	SNP	C	TCGA-KN-8421-01A-11D-2310-10		12044010	134320012	19	40860											
MYC	4609	broad.mit.edu	37	8	128752827	128752827	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr8:128752827delA	ENST00000377970.2	+	3	1498	c.988delA	c.(988-990)actfs	p.T330fs	MYC_ENST00000524013.1_Frame_Shift_Del_p.T329fs	NM_002467.4	NP_002458	P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	315					branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular iron ion homeostasis (GO:0006879)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|chromosome organization (GO:0051276)|energy reserve metabolic process (GO:0006112)|fibroblast apoptotic process (GO:0044346)|gene expression (GO:0010467)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell division (GO:0051782)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|oxygen transport (GO:0015671)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of metanephric cap mesenchymal cell proliferation (GO:0090096)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of telomere maintenance (GO:0032204)|response to drug (GO:0042493)|response to gamma radiation (GO:0010332)|response to growth factor (GO:0070848)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein complex binding (GO:0032403)|repressing transcription factor binding (GO:0070491)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	Nadroparin(DB08813)	GCCTCCCTCCACTCGGAAGGA	0.577		3	"A, T"	"IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"	"Burkitt lymphoma,  amplified in other cancers, B-CLL"																																		Dom	yes		8	8q24.12-q24.13	4609	v-myc myelocytomatosis viral oncogene homolog (avian)		"L, E"	0													81	63	69					8																	128752827		2203	4300	6503	SO:0001589	frameshift_variant	4609				CCDS6359.2	8q24	2013-07-09	2013-07-09		ENSG00000136997	ENSG00000136997		"Basic helix-loop-helix proteins"	7553	protein-coding gene	gene with protein product		190080					Standard	NM_002467		Approved	c-Myc, bHLHe39, MYCC	uc003ysi.3	P01106	OTTHUMG00000128475	ENST00000377970.2:c.988delA	8.37:g.128752827delA	ENSP00000367207:p.Thr330fs		A8WFE7|P01107|Q14026	Frame_Shift_Del	DEL	ENST00000377970.2	37	CCDS6359.2																																																																																				0.577	MYC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250277.3			-	128752827	A	-	128752827	7	5	727	1	0	1	0	1	0	0	0	0	10018	159	6	0	998	0	MYC	8	128752827	Frame_Shift_Del	DEL	A	TCGA-KN-8421-01A-11D-2310-10	116708817	128752827	17611195	20	40861											
ARC	23237	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	8	143694490	143694490	+	Silent	SNP	G	G	A			TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr8:143694490G>A	ENST00000356613.2	-	1	2343	c.1143C>T	c.(1141-1143)ccC>ccT	p.P381P	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)				TGTTGGGGGCGGGCGTGAGGG	0.706																																																0													7	9	8					8																	143694490		2150	4240	6390	SO:0001819	synonymous_variant	23237			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.1143C>T	8.37:g.143694490G>A			B4DFL0|O60937	Silent	SNP	ENST00000356613.2	37	CCDS34950.1																																																																																				0.706	ARC-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259274.2			A	143694490	G	A	143694490	2	1	727	1	0	0	0	0	0	0	0	1	841	1103	39	1		1	ARC	8	143694490	Silent	SNP	G	TCGA-KN-8421-01A-11D-2310-10	14941663	143694490	2669532	21	40862											
PLEC	5339	mdanderson.org	37	8	144996111	144996111	+	Silent	SNP	C	C	T	rs34803322	byFrequency	TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr8:144996111C>T	ENST00000322810.4	-	32	8458	c.8289G>A	c.(8287-8289)ctG>ctA	p.L2763L	PLEC_ENST00000357649.2_Silent_p.L2630L|PLEC_ENST00000436759.2_Silent_p.L2653L|PLEC_ENST00000356346.3_Silent_p.L2612L|PLEC_ENST00000527096.1_Silent_p.L2649L|PLEC_ENST00000354958.2_Silent_p.L2604L|PLEC_ENST00000354589.3_Silent_p.L2626L|PLEC_ENST00000345136.3_Silent_p.L2626L|PLEC_ENST00000398774.2_Silent_p.L2594L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2763	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						GGCCATTGGGCAGGGTCTTTG	0.687													C|||	373	0.0744808	0.0121	0.147	5008	,	,		17788	0.0456		0.0626	False		,,,				2504	0.1493															0								C	,,,,,,,	66,4038		1,64,1987	15	19	17		7959,7836,7812,8289,7782,7878,7890,7878	2.1	1	8	dbSNP_126	17	487,7773		10,467,3653	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	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	,,,,,,,	11,531,5640	TT,TC,CC		5.8959,1.6082,4.4727	,,,,,,,	2653/4575,2612/4534,2604/4526,2763/4685,2594/4516,2626/4548,2630/4552,2626/4548	144996111	553,11811	2052	4130	6182	SO:0001819	synonymous_variant	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.8289G>A	8.37:g.144996111C>T			Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1	118	0.05402930402930403	3	0.006097560975609756	45	0.12430939226519337	19	0.033216783216783216	51	0.06728232189973615	C	0.062	-1.222671	0.01530	0.016082	0.058959	ENSG00000178209	ENST00000527303	.	.	.	3.95	2.09	0.27110	.	.	.	.	.	T	0.00845	0.0028	.	.	.	0.09310	P	0.9999999999999596	.	.	.	.	.	.	T	0.13469	-1.0508	3	.	.	.	.	8.6493	0.34025	0.0:0.7593:0.1535:0.0873	rs34803322;rs34803322	.	.	.	Y	196	.	.	C	-	2	0	PLEC	145068099	0.994000	0.37717	0.997000	0.53966	0.022000	0.10575	0.364000	0.20325	0.427000	0.26145	0.448000	0.29417	TGC		0.687	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		T	144996111	C	T	144996111	2	4	727	1	0	0	0	0	0	0	0	1	12054	697	25	2		2	PLEC	8	144996111	Silent	SNP	C	TCGA-KN-8421-01A-11D-2310-10	1301621	144996111	1367911	22	40863											
PTPRD	5789	broad.mit.edu;mdanderson.org;bcgsc.ca	37	9	8521528	8521528	+	Missense_Mutation	SNP	C	C	G			TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr9:8521528C>G	ENST00000381196.4	-	17	1253	c.710G>C	c.(709-711)aGa>aCa	p.R237T	PTPRD_ENST00000397617.3_Missense_Mutation_p.R227T|PTPRD_ENST00000355233.5_Missense_Mutation_p.R237T|PTPRD_ENST00000486161.1_Missense_Mutation_p.R237T|PTPRD_ENST00000537002.1_Missense_Mutation_p.R234T|PTPRD_ENST00000356435.5_Missense_Mutation_p.R237T|PTPRD_ENST00000397611.3_Missense_Mutation_p.R234T|PTPRD_ENST00000358503.5_Missense_Mutation_p.R224T|PTPRD_ENST00000540109.1_Missense_Mutation_p.R237T|PTPRD_ENST00000360074.4_Missense_Mutation_p.R224T|PTPRD_ENST00000397606.3_Missense_Mutation_p.R227T	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	237	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)		GATAGAGAATCTTGGTGGGAC	0.448										TSP Lung(15;0.13)																																						0													102	87	92					9																	8521528		2203	4300	6503	SO:0001583	missense	5789			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.710G>C	9.37:g.8521528C>G	ENSP00000370593:p.Arg237Thr		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.463524	0.84425	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25	5.68	5.68	0.88126	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.72653	0.3487	N	0.21142	0.635	0.80722	D	1	D;D;D;D;D;D;P;D;P	0.89917	1.0;1.0;0.999;1.0;0.994;1.0;0.764;1.0;0.802	D;D;D;D;P;D;B;D;P	0.81914	0.995;0.995;0.986;0.995;0.859;0.995;0.225;0.972;0.459	T	0.70037	-0.4982	9	.	.	.	.	19.7917	0.96461	0.0:1.0:0.0:0.0	.	227;231;237;237;234;234;224;237;237	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	T	237;237;224;224;237;227;234;234;237;237;237;227	ENSP00000370593:R237T;ENSP00000348812:R237T;ENSP00000353187:R224T;ENSP00000351293:R224T;ENSP00000347373:R237T;ENSP00000380741:R227T;ENSP00000380735:R234T;ENSP00000440515:R234T;ENSP00000438164:R237T;ENSP00000417093:R237T;ENSP00000380731:R227T	.	R	-	2	0	PTPRD	8511528	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.770000	0.85390	2.688000	0.91661	0.563000	0.77884	AGA		0.448	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			G	8521528	C	G	8521528	3	3	727	1	0	0	0	0	1	0	0	0	12805	913	32	4	5204	4	PTPRD	9	8521528	Missense_Mutation	SNP	C	TCGA-KN-8421-01A-11D-2310-10		8521528	132691903	23	40864											
PRSS3	5646	mdanderson.org	37	9	33798016	33798016	+	Silent	SNP	C	C	T			TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr9:33798016C>T	ENST00000361005.5	+	3	561	c.561C>T	c.(559-561)acC>acT	p.T187T	RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000379405.3_Silent_p.T130T|PRSS3_ENST00000429677.3_Silent_p.T123T|PRSS3_ENST00000342836.4_Silent_p.T144T	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3	187	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)			CTCTGCCCACCACCCCTCCAG	0.562																																																0													177	135	149					9																	33798016		2203	4300	6503	SO:0001819	synonymous_variant	5646				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.561C>T	9.37:g.33798016C>T			A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	Silent	SNP	ENST00000361005.5	37	CCDS47958.1																																																																																				0.562	PRSS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052121.1	NM_002771		T	33798016	C	T	33798016	2	4	727	1	0	0	0	0	0	0	0	1	12627	581	21	2		2	PRSS3	9	33798016	Silent	SNP	C	TCGA-KN-8421-01A-11D-2310-10	25276488	33798016	107415415	24	40865											
FAM120AOS	158293	mdanderson.org	37	9	96214928	96214928	+	Missense_Mutation	SNP	G	G	A	rs1055710	byFrequency	TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr9:96214928G>A	ENST00000375412.5	-	1	946	c.64C>T	c.(64-66)Ctc>Ttc	p.L22F	FAM120A_ENST00000333936.5_Intron|FAM120AOS_ENST00000479094.1_5'Flank|FAM120AOS_ENST00000423591.1_5'Flank|FAM120A_ENST00000277165.6_Intron|FAM120A_ENST00000340893.4_Intron|FAM120A_ENST00000375389.3_Intron	NM_198841.2	NP_942138.2	Q5T036	F120S_HUMAN	family with sequence similarity 120A opposite strand	22			L -> F (in dbSNP:rs1055710). {ECO:0000269|PubMed:14702039}.							kidney(1)|large_intestine(1)|lung(3)|skin(1)	6						GGCTGGGAGAGAGCCCCGGAC	0.627													G|||	1451	0.289736	0.2247	0.33	5008	,	,		14673	0.4187		0.3509	False		,,,				2504	0.1534															0								G	,PHE/LEU	862,3084		96,670,1207	22	25	24		,64	-6.6	0	9	dbSNP_86	24	2380,5512		372,1636,1938	yes	intron,missense	FAM120A,FAM120AOS	NM_014612.3,NM_198841.2	,22	468,2306,3145	AA,AG,GG		30.1571,21.8449,27.3864	,benign	,22/257	96214928	3242,8596	1973	3946	5919	SO:0001583	missense	158293			AK056096	CCDS6705.1	9q22.32	2008-02-05	2006-07-04	2006-07-04	ENSG00000188938	ENSG00000188938			23389	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 10 opposite strand"	C9orf10OS		14585507	Standard	NM_198841		Approved		uc004atu.4	Q5T036	OTTHUMG00000020251	ENST00000375412.5:c.64C>T	9.37:g.96214928G>A	ENSP00000364561:p.Leu22Phe		A6NN20	Missense_Mutation	SNP	ENST00000375412.5	37	CCDS6705.1	781	0.3576007326007326	114	0.23170731707317074	137	0.3784530386740331	258	0.45104895104895104	272	0.35883905013192613	G	13.52	2.262325	0.39995	0.218449	0.301571	ENSG00000188938	ENST00000375412	T	0.55588	0.51	3.32	-6.63	0.01807	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.58432	P	2.9999999999752447E-6	B	0.20780	0.048	B	0.16289	0.015	T	0.41052	-0.9530	8	0.32370	T	0.25	.	2.1198	0.03723	0.1008:0.2486:0.2257:0.4248	rs1055710;rs3196205;rs58279967;rs1055710	22	Q5T036	F120S_HUMAN	F	22	ENSP00000364561:L22F	ENSP00000364561:L22F	L	-	1	0	FAM120AOS	95254749	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.624000	0.02038	-1.502000	0.01814	0.591000	0.81541	CTC		0.627	FAM120AOS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053154.1			A	96214928	G	A	96214928	3	1	727	1	0	0	0	0	1	0	0	0	5418	942	33	2	718	2	FAM120AOS	9	96214928	Missense_Mutation	SNP	G	TCGA-KN-8421-01A-11D-2310-10	62416912	96214928	44998503	25	40866											
MUC6	4588	mdanderson.org	37	11	1017684	1017684	+	Missense_Mutation	SNP	G	G	A	rs112886536	byFrequency	TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr11:1017684G>A	ENST00000421673.2	-	31	5167	c.5117C>T	c.(5116-5118)gCc>gTc	p.A1706V		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1706	Approximate repeats.|Thr-rich.				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)		AGTTGAGGTGGCTTCAGCATG	0.552																																																0								A	VAL/ALA	52,4350	752.1+/-412.3	0,52,2149	681	675	677		5117	-2.6	0	11	dbSNP_132	677	13,8559	797.0+/-407.5	0,13,4273	no	missense	MUC6	NM_005961.2	64	0,65,6422	AA,AG,GG		0.1517,1.1813,0.501	benign	1706/2440	1017684	65,12909	2201	4286	6487	SO:0001583	missense	4588			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.5117C>T	11.37:g.1017684G>A	ENSP00000406861:p.Ala1706Val		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	A	4.055	0.007944	0.07866	0.011813	0.001517	ENSG00000184956	ENST00000421673	T	0.19669	2.13	1.69	-2.64	0.06114	.	.	.	.	.	T	0.05593	0.0147	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.30268	-0.9984	9	0.34782	T	0.22	.	3.8045	0.08771	0.1451:0.0:0.4591:0.3957	.	1706	Q6W4X9	MUC6_HUMAN	V	1706	ENSP00000406861:A1706V	ENSP00000406861:A1706V	A	-	2	0	MUC6	1007684	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.275000	0.08525	-0.637000	0.05516	-0.850000	0.03035	GCC		0.552	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		A	1017684	G	A	1017684	3	1	727	1	0	0	0	0	1	0	0	0	9982	1203	42	2	2214	2	MUC6	11	1017684	Missense_Mutation	SNP	G	TCGA-KN-8421-01A-11D-2310-10		1017684	133988832	26	40867											
MUC2	4583	mdanderson.org	37	11	1093575	1093575	+	Silent	SNP	G	G	T	rs201450769		TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr11:1093575G>T	ENST00000441003.2	+	30	5421	c.5394G>T	c.(5392-5394)acG>acT	p.T1798T	MUC2_ENST00000359061.5_Silent_p.T1754T|MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_Silent_p.T86T	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0					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)		p.T1798T(1)|p.T1754T(1)		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)	ccacaactacGGTGACCGCAA	0.582																																																2	Substitution - coding silent(2)	lung(2)											92	124	113					11																	1093575		2192	4266	6458	SO:0001819	synonymous_variant	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.5394G>T	11.37:g.1093575G>T			Q14878	Silent	SNP	ENST00000441003.2	37																																																																																					0.582	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		T	1093575	G	T	1093575	2	4	727	1	0	0	0	0	0	0	0	1	9977	1103	39	4		4	MUC2	11	1093575	Silent	SNP	G	TCGA-KN-8421-01A-11D-2310-10	75891	1093575	133912941	27	40868											
OR9G1	390174	mdanderson.org	37	11	56468440	56468440	+	Missense_Mutation	SNP	G	G	T	rs397849038|rs12421330		TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr11:56468440G>T	ENST00000312153.1	+	1	577	c.577G>T	c.(577-579)Ggc>Tgc	p.G193C		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, 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)			breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						CGAGAAGGGCGGCTATAAAAT	0.478																																																0													117	118	118					11																	56468440		2201	4296	6497	SO:0001583	missense	390174			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.577G>T	11.37:g.56468440G>T	ENSP00000309012:p.Gly193Cys		Q6IEU9|Q8NGQ0	Missense_Mutation	SNP	ENST00000312153.1	37	CCDS31536.1	.	.	.	.	.	.	.	.	.	.	G	5.488	0.275107	0.10403	.	.	ENSG00000174914	ENST00000312153	T	0.00091	8.74	4.52	3.6	0.41247	GPCR, rhodopsin-like superfamily (1);	0.649761	0.14366	N	0.324095	T	0.00241	0.0007	L	0.28400	0.85	0.09310	N	1	P	0.46859	0.885	P	0.62184	0.899	T	0.56208	-0.8017	10	0.72032	D	0.01	-12.3577	8.9994	0.36072	0.2548:0.0:0.7452:0.0	rs12421330	193	Q8NH87	OR9G1_HUMAN	C	193	ENSP00000309012:G193C	ENSP00000309012:G193C	G	+	1	0	OR9G1	56225016	0.000000	0.05858	0.002000	0.10522	0.000000	0.00434	-1.080000	0.03407	0.630000	0.30394	-1.202000	0.01658	GGC		0.478	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393253.1	NM_001005213		T	56468440	G	T	56468440	3	4	727	1	0	0	0	0	1	0	0	0	11252	1116	39	4	579	4	OR9G1	11	56468440	Missense_Mutation	SNP	G	TCGA-KN-8421-01A-11D-2310-10	55374865	56468440	78538076	28	40869											
ATG2A	23130	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	11	64664265	64664265	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr11:64664265C>T	ENST00000377264.3	-	38	5339	c.5227G>A	c.(5227-5229)Ggc>Agc	p.G1743S	ATG2A_ENST00000421419.2_Missense_Mutation_p.G1745S	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1743					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						CCCAGCAGGCCGGGCAGCTGG	0.622											OREG0004026	type=REGULATORY REGION|Gene=BC027481|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																				0													58	60	59					11																	64664265		2201	4297	6498	SO:0001583	missense	23130				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.5227G>A	11.37:g.64664265C>T	ENSP00000366475:p.Gly1743Ser	1078	O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	ENST00000377264.3	37	CCDS31602.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.8|22.8	4.331934|4.331934	0.81801|0.81801	.|.	.|.	ENSG00000110046|ENSG00000110046	ENST00000421419;ENST00000377262;ENST00000377264|ENST00000418259	T;T|.	0.08370|.	3.1;3.1|.	4.05|4.05	3.13|3.13	0.36017|0.36017	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.43255|0.43255	0.1239|0.1239	N|N	0.26130|0.26130	0.795|0.795	0.54753|0.54753	D|D	0.999981|0.999981	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.999|.	T|T	0.18935|0.18935	-1.0321|-1.0321	10|5	0.35671|.	T|.	0.21|.	.|.	9.7877|9.7877	0.40686|0.40686	0.0:0.8963:0.0:0.1037|0.0:0.8963:0.0:0.1037	.|.	1743;1745|.	Q2TAZ0;Q2TAZ0-3|.	ATG2A_HUMAN;.|.	S|Q	1745;136;1743|1546	ENSP00000410522:G1745S;ENSP00000366475:G1743S|.	ENSP00000366473:G136S|.	G|R	-|-	1|2	0|0	ATG2A|ATG2A	64420841|64420841	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.971000|0.971000	0.66376|0.66376	5.233000|5.233000	0.65337|0.65337	1.067000|1.067000	0.40740|0.40740	-0.258000|-0.258000	0.10820|0.10820	GGC|CGG		0.622	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		T	64664265	C	T	64664265	3	4	727	1	0	0	0	0	1	0	0	0	1093	652	23	1	605	1	ATG2A	11	64664265	Missense_Mutation	SNP	C	TCGA-KN-8421-01A-11D-2310-10	8195825	64664265	70342251	29	40870											
KRTAP5-10	387273	mdanderson.org	37	11	71276702	71276702	+	Silent	SNP	C	C	T	rs113977776		TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr11:71276702C>T	ENST00000398531.1	+	1	94	c.69C>T	c.(67-69)ggC>ggT	p.G23G	KRTAP5-10_ENST00000376536.4_Silent_p.G23G	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	23						keratin filament (GO:0045095)				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						GCTGTGGGGGCTGTGGCTCCG	0.662																																																0													29	40	37					11																	71276702		2178	4275	6453	SO:0001819	synonymous_variant	387273			AB126079	CCDS41684.1	11q13.4	2008-02-05			ENSG00000204572	ENSG00000204572		"Keratin associated proteins"	23605	protein-coding gene	gene with protein product						15144888	Standard	NM_001012710		Approved	KRTAP5.10	uc001oqt.1	Q6L8G5	OTTHUMG00000057585	ENST00000398531.1:c.69C>T	11.37:g.71276702C>T			B9EHA4	Silent	SNP	ENST00000398531.1	37	CCDS41684.1																																																																																				0.662	KRTAP5-10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000127968.2			T	71276702	C	T	71276702	2	4	727	1	0	0	0	0	0	0	0	1	8561	784	28	2		2	KRTAP5-10	11	71276702	Silent	SNP	C	TCGA-KN-8421-01A-11D-2310-10	6612437	71276702	63729814	30	40871											
DLG2	1740	mdanderson.org	37	11	84245725	84245725	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr11:84245725C>T	ENST00000532653.1	-	2	394	c.92G>A	c.(91-93)cGa>cAa	p.R31Q	DLG2_ENST00000543673.1_Missense_Mutation_p.R136Q|DLG2_ENST00000398309.2_Missense_Mutation_p.R31Q|DLG2_ENST00000376104.2_Missense_Mutation_p.R136Q|DLG2_ENST00000524982.1_Missense_Mutation_p.R31Q			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0	L27 1. {ECO:0000255|PROSITE- ProRule:PRU00365}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				GTGGGTTAGTCGAGGTAAGGA	0.388																																																0													194	180	184					11																	84245725		1876	4115	5991	SO:0001583	missense	1740			U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	2901	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 58"	603583	"discs, large homolog 2, chapsyn-110 (Drosophila)"			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.92G>A	11.37:g.84245725C>T	ENSP00000435849:p.Arg31Gln		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000532653.1	37		.	.	.	.	.	.	.	.	.	.	C	21.2	4.113970	0.77210	.	.	ENSG00000150672	ENST00000398309;ENST00000376104;ENST00000543673;ENST00000524982;ENST00000532653;ENST00000546021;ENST00000527088	T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06	5.88	5.88	0.94601	Membrane-associated guanylate kinase (MAGUK), PEST domain, N-terminal (1);	0.000000	0.50627	D	0.000107	T	0.31071	0.0785	N	0.03948	-0.315	0.80722	D	1	D;B;D;B	0.63046	0.982;0.051;0.992;0.083	P;B;P;B	0.48901	0.59;0.01;0.594;0.025	T	0.22277	-1.0221	9	.	.	.	.	20.2279	0.98344	0.0:1.0:0.0:0.0	.	31;31;136;31	B7Z2T4;E9PN83;Q15700-2;Q15700	.;.;.;DLG2_HUMAN	Q	31;136;136;31;31;136;52	ENSP00000381355:R31Q;ENSP00000365272:R136Q;ENSP00000441994:R136Q;ENSP00000432894:R31Q;ENSP00000435849:R31Q;ENSP00000435809:R52Q	.	R	-	2	0	DLG2	83923373	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.624000	0.67764	2.778000	0.95560	0.655000	0.94253	CGA		0.388	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2	NM_001364		T	84245725	C	T	84245725	3	4	727	1	0	0	0	0	1	0	0	0	4557	884	31	1	2767	1	DLG2	11	84245725	Missense_Mutation	SNP	C	TCGA-KN-8421-01A-11D-2310-10	12969023	84245725	50760791	31	40872											
OR10G4	390264	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	11	123886665	123886665	+	Silent	SNP	G	G	A			TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr11:123886665G>A	ENST00000320891.4	+	1	384	c.384G>A	c.(382-384)ccG>ccA	p.P128P		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	128						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)		TCAGTTACCCGCTCAGGTACA	0.557																																																0																																										SO:0001819	synonymous_variant	390264			AB065757	CCDS31702.1	11q24.1	2012-08-09			ENSG00000254737	ENSG00000254737		"GPCR / Class A : Olfactory receptors"	14809	protein-coding gene	gene with protein product							Standard	NM_001004462		Approved		uc010sac.2	Q8NGN3	OTTHUMG00000165966	ENST00000320891.4:c.384G>A	11.37:g.123886665G>A			Q6IEW0	Silent	SNP	ENST00000320891.4	37	CCDS31702.1																																																																																				0.557	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387268.1	NM_001004462		A	123886665	G	A	123886665	2	1	727	1	0	0	0	0	0	0	0	1	10903	1074	38	1		1	OR10G4	11	123886665	Silent	SNP	G	TCGA-KN-8421-01A-11D-2310-10	39640940	123886665	11119851	32	40873											
PRB2	653247	mdanderson.org	37	12	11546006	11546006	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr12:11546006G>A	ENST00000389362.4	-	3	1041	c.1006C>T	c.(1006-1008)Cct>Tct	p.P336S	PRB1_ENST00000546254.1_Intron|PRB2_ENST00000545829.1_5'Flank	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	336	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGACCTTGAGGTTTGTTGCCT	0.612																																																0													64	77	72					12																	11546006		2154	4213	6367	SO:0001583	missense	653247			K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.1006C>T	12.37:g.11546006G>A	ENSP00000374013:p.Pro336Ser		O00599|P02811|P04281	Missense_Mutation	SNP	ENST00000389362.4	37	CCDS41757.2	.	.	.	.	.	.	.	.	.	.	.	0.008	-1.910201	0.00508	.	.	ENSG00000121335	ENST00000389362	T	0.05382	3.45	1.28	1.28	0.21552	.	.	.	.	.	T	0.02267	0.0070	N	0.04090	-0.28	0.09310	N	1	B	0.23540	0.087	B	0.15870	0.014	T	0.47586	-0.9106	9	0.10111	T	0.7	.	4.2319	0.10608	0.2535:0.0:0.7465:0.0	.	336	P02812	PRB2_HUMAN	S	336	ENSP00000374013:P336S	ENSP00000374013:P336S	P	-	1	0	PRB2	11437273	0.003000	0.15002	0.001000	0.08648	0.001000	0.01503	1.293000	0.33353	0.634000	0.30469	0.492000	0.49549	CCT		0.612	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		A	11546006	G	A	11546006	3	1	727	1	0	0	0	0	1	0	0	0	12448	1261	44	2	248	2	PRB2	12	11546006	Missense_Mutation	SNP	G	TCGA-KN-8421-01A-11D-2310-10		11546006	122305889	33	40874											
GALNT6	11226	broad.mit.edu	37	12	51757967	51757967	+	Silent	SNP	G	G	A			TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr12:51757967G>A	ENST00000543196.2	-	5	1192	c.987C>T	c.(985-987)ttC>ttT	p.F329F	GALNT6_ENST00000356317.3_Silent_p.F329F			Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	329					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						TTTCCCAGCCGAAGGTCAGGC	0.572																																																0													119	111	114					12																	51757967		2203	4300	6503	SO:0001819	synonymous_variant	11226			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.987C>T	12.37:g.51757967G>A			Q8IYH4|Q9H6G2|Q9UIV5	Silent	SNP	ENST00000543196.2	37	CCDS8813.1																																																																																				0.572	GALNT6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469735.1	NM_007210		A	51757967	G	A	51757967	2	1	727	1	0	0	0	0	0	0	0	1	6219	1049	37	1		1	GALNT6	12	51757967	Silent	SNP	G	TCGA-KN-8421-01A-11D-2310-10	40211961	51757967	82093928	34	40875											
C13orf26	122046	ucsc.edu	37	13	31531011	31531011	+	Splice_Site	SNP	A	A	G			TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr13:31531011A>G	ENST00000380473.3	+	4	327	c.314A>G	c.(313-315)gAc>gGc	p.D105G		NM_152325.1	NP_689538.1	Q8N6G2	TEX26_HUMAN	testis expressed 26	105																	CTTTGATAGGACATTTTCCTG	0.403																																																0													93	85	87					13																	31531011		2203	4300	6503	SO:0001630	splice_region_variant	122046			BC030277	CCDS9339.1	13q12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000175664	ENSG00000175664			28622	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 26"	C13orf26		12477932	Standard	NM_152325		Approved	MGC40178	uc001uti.3	Q8N6G2	OTTHUMG00000016682	ENST00000380473.3:c.313-1A>G	13.37:g.31531011A>G				Missense_Mutation	SNP	ENST00000380473.3	37	CCDS9339.1	.	.	.	.	.	.	.	.	.	.	A	2.912	-0.225094	0.06022	.	.	ENSG00000175664	ENST00000380473	T	0.46451	0.87	4.81	-2.77	0.05877	.	0.976673	0.08367	N	0.956788	T	0.28234	0.0697	L	0.31294	0.92	0.23681	N	0.997123	B	0.02656	0.0	B	0.01281	0.0	T	0.25813	-1.0121	10	0.20519	T	0.43	0.4607	10.9049	0.47073	0.5433:0.0:0.4567:0.0	.	105	Q8N6G2	CM026_HUMAN	G	105	ENSP00000369840:D105G	ENSP00000369840:D105G	D	+	2	0	C13orf26	30429011	0.005000	0.15991	0.000000	0.03702	0.000000	0.00434	0.149000	0.16243	-1.433000	0.01977	-1.676000	0.00740	GAC		0.403	TEX26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044380.2	NM_152325	Missense_Mutation	G	31531011	A	G	31531011	5	3	727	1	0	0	0	0	0	0	1	0	1724	289	10	3	328	3	C13orf26	13	31531011	Splice_Site	SNP	A	TCGA-KN-8421-01A-11D-2310-10		31531011	83638867	35	40876											
KBTBD6	89890	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	13	41704863	41704863	+	Missense_Mutation	SNP	C	C	A			TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr13:41704863C>A	ENST00000379485.1	-	1	2019	c.1785G>T	c.(1783-1785)tgG>tgT	p.W595C	KBTBD6_ENST00000499385.2_Missense_Mutation_p.W529C	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	595										NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CTATATTAATCCATTGGTCTC	0.438																																																0													180	178	178					13																	41704863		2203	4300	6503	SO:0001583	missense	89890			AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"BTB/POZ domain containing"	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.1785G>T	13.37:g.41704863C>A	ENSP00000368799:p.Trp595Cys		Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Missense_Mutation	SNP	ENST00000379485.1	37	CCDS9376.1	.	.	.	.	.	.	.	.	.	.	c	16.59	3.165208	0.57476	.	.	ENSG00000165572	ENST00000379485;ENST00000499385	T;T	0.75589	-0.95;-0.95	3.8	3.8	0.43715	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.79540	0.4463	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	0.81938	-0.0704	10	0.87932	D	0	.	13.5205	0.61566	0.0:1.0:0.0:0.0	.	529;595	F5GZN7;Q86V97	.;KBTB6_HUMAN	C	595;529	ENSP00000368799:W595C;ENSP00000444326:W529C	ENSP00000368799:W595C	W	-	3	0	KBTBD6	40602863	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	4.462000	0.60121	2.132000	0.65825	0.462000	0.41574	TGG		0.438	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1	NM_152903		A	41704863	C	A	41704863	3	1	727	1	0	0	0	0	1	0	0	0	7999	856	30	4	243	4	KBTBD6	13	41704863	Missense_Mutation	SNP	C	TCGA-KN-8421-01A-11D-2310-10	10173852	41704863	73465015	36	40877											
POTEG	404785	mdanderson.org	37	14	19558994	19558994	+	Missense_Mutation	SNP	G	G	A	rs138773680		TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr14:19558994G>A	ENST00000409832.3	+	3	692	c.640G>A	c.(640-642)Gta>Ata	p.V214I		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	214										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						CTGACAGGCCGTACAATGCCG	0.383																																																0													161	182	175					14																	19558994		1924	3884	5808	SO:0001583	missense	404785				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.640G>A	14.37:g.19558994G>A	ENSP00000386971:p.Val214Ile		A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	ENST00000409832.3	37	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	g	7.950	0.744672	0.15710	.	.	ENSG00000222036	ENST00000409832	T	0.66638	-0.22	1.87	0.387	0.16259	Ankyrin repeat-containing domain (4);	0.710225	0.12028	N	0.506284	T	0.47710	0.1460	L	0.28694	0.88	0.20926	N	0.999823	B	0.18968	0.032	B	0.16289	0.015	T	0.29488	-1.0010	10	0.35671	T	0.21	.	4.2876	0.10862	0.3015:0.0:0.6985:0.0	.	214	Q6S5H5	POTEG_HUMAN	I	214	ENSP00000386971:V214I	ENSP00000386971:V214I	V	+	1	0	POTEG	18628994	0.882000	0.30256	0.041000	0.18516	0.038000	0.13279	1.019000	0.30014	0.095000	0.17434	0.184000	0.17185	GTA		0.383	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		A	19558994	G	A	19558994	3	1	727	1	0	0	0	0	1	0	0	0	12268	1145	40	1	650	1	POTEG	14	19558994	Missense_Mutation	SNP	G	TCGA-KN-8421-01A-11D-2310-10		19558994	87790546	37	40878											
OR4N2	390429	broad.mit.edu	37	14	20296067	20296067	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr14:20296067delG	ENST00000315947.1	+	1	460	c.460delG	c.(460-462)gtcfs	p.V154fs	OR4N2_ENST00000568211.1_Frame_Shift_Del_p.V154fs	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	154						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(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGGGGGTTTTGTCCACTCCAT	0.527																																																0													126	138	134					14																	20296067		2203	4298	6501	SO:0001589	frameshift_variant	390429				CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"GPCR / Class A : Olfactory receptors"	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.460delG	14.37:g.20296067delG	ENSP00000319601:p.Val154fs		Q6IEY9|Q6IFA2	Frame_Shift_Del	DEL	ENST00000315947.1	37	CCDS32022.1																																																																																				0.527	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			-	20296067	G	-	20296067	7	5	727	1	0	1	0	1	0	0	0	0	11079	1377	48	0	462	0	OR4N2	14	20296067	Frame_Shift_Del	DEL	G	TCGA-KN-8421-01A-11D-2310-10	737073	20296067	87053473	38	40879											
RFX7	64864	ucsc.edu	37	15	56388708	56388708	+	Silent	SNP	T	T	C			TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr15:56388708T>C	ENST00000559447.2	-	9	1198	c.927A>G	c.(925-927)aaA>aaG	p.K309K	RFX7_ENST00000422057.1_Silent_p.K309K|RFX7_ENST00000317318.6_Silent_p.K406K|RFX7_ENST00000423270.1_Silent_p.K406K			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	309					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						TTGGTGCCTGTTTCACAGACT	0.532																																																0													99	101	100					15																	56388708		2024	4188	6212	SO:0001819	synonymous_variant	64864					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.927A>G	15.37:g.56388708T>C			Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Silent	SNP	ENST00000559447.2	37																																																																																					0.532	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3	NM_022841		C	56388708	T	C	56388708	2	2	727	1	0	0	0	0	0	0	0	1	13274	1722	60	3		3	RFX7	15	56388708	Silent	SNP	T	TCGA-KN-8421-01A-11D-2310-10		56388708	46142684	39	40880											
ELMO3	1874	ucsc.edu	37	16	67233116	67233116	+	IGR	SNP	T	T	C			TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr16:67233116T>C	ENST00000379378.3	+	0	2096				ELMO3_ENST00000477898.1_5'Flank|ELMO3_ENST00000393997.2_Missense_Mutation_p.S16P|ELMO3_ENST00000360833.1_Missense_Mutation_p.S16P	NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding						blood circulation (GO:0008015)|cell volume homeostasis (GO:0006884)|cilium assembly (GO:0042384)|epithelial cell development (GO:0002064)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of cell size (GO:0008361)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		GACACCGAGGTCAGGTCTCGG	0.692																																																0													21	30	27					16																	67233116		2087	4209	6296	SO:0001628	intergenic_variant	79767			BC021050	CCDS32464.1	16q22.1	2014-05-06			ENSG00000205250	ENSG00000205250			3118	protein-coding gene	gene with protein product		600659				7958924, 7892279	Standard	NM_001950		Approved	E2F-4	uc002erz.3	Q16254	OTTHUMG00000172975		16.37:g.67233116T>C			A6NGR8|B5BU56|Q12991|Q15328	Missense_Mutation	SNP	ENST00000379378.3	37	CCDS32464.1	.	.	.	.	.	.	.	.	.	.	T	17.29	3.352548	0.61293	.	.	ENSG00000102890	ENST00000360833;ENST00000393997	T;T	0.15952	2.39;2.38	4.18	-5.95	0.02241	.	.	.	.	.	T	0.06005	0.0156	N	0.08118	0	0.09310	N	0.999995	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.36915	-0.9728	9	0.87932	D	0	5.329	0.5961	0.00736	0.2758:0.1806:0.1364:0.4072	.	16;16	F8W9E7;Q96BJ8-3	.;.	P	16	ENSP00000354077:S16P;ENSP00000377566:S16P	ENSP00000354077:S16P	S	+	1	0	ELMO3	65790617	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.328000	0.02680	-0.679000	0.05217	-0.468000	0.05107	TCA		0.692	E2F4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421565.1	NM_001950		C	67233116	T	C	67233116	1	2	727	0	1	0	0	0	0	0	0	0	5069	1667	58	3		3	ELMO3	16	67233116	IGR	SNP	T	TCGA-KN-8421-01A-11D-2310-10		67233116	23121637	40	40881											
KIAA0753	9851	hgsc.bcm.edu	37	17	6510586	6510586	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr17:6510586C>T	ENST00000361413.3	-	11	2192	c.1834G>A	c.(1834-1836)Gct>Act	p.A612T	KIAA0753_ENST00000542606.1_Missense_Mutation_p.A313T|KIAA0753_ENST00000589033.1_Missense_Mutation_p.A68T|KIAA0753_ENST00000575027.1_5'Flank|KIAA0753_ENST00000572370.1_Missense_Mutation_p.A313T	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	612						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		TCAAGCCAAGCGAGCCTAGCA	0.438																																																0													107	105	106					17																	6510586		1944	4143	6087	SO:0001583	missense	9851				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.1834G>A	17.37:g.6510586C>T	ENSP00000355250:p.Ala612Thr		A8KA11|B7Z479|O94853|Q05D97|Q2KHN0|Q9UG45	Missense_Mutation	SNP	ENST00000361413.3	37	CCDS42247.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.458604	0.43634	.	.	ENSG00000198920	ENST00000361413;ENST00000542606;ENST00000542826	D;D	0.86562	-2.14;-2.14	5.31	3.28	0.37604	.	0.225713	0.46145	D	0.000313	T	0.79839	0.4515	L	0.59436	1.845	0.27718	N	0.945211	P	0.39964	0.697	B	0.30029	0.11	T	0.74861	-0.3520	10	0.72032	D	0.01	-8.8009	6.7333	0.23395	0.1801:0.7305:0.0:0.0894	.	612	Q2KHM9	K0753_HUMAN	T	612;313;68	ENSP00000355250:A612T;ENSP00000444634:A313T	ENSP00000355250:A612T	A	-	1	0	KIAA0753	6451310	0.990000	0.36364	1.000000	0.80357	0.999000	0.98932	0.501000	0.22578	0.890000	0.36211	0.650000	0.86243	GCT		0.438	KIAA0753-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439769.3	NM_014804		T	6510586	C	T	6510586	3	4	727	1	0	0	0	0	1	0	0	0	8193	768	27	1	1105	1	KIAA0753	17	6510586	Missense_Mutation	SNP	C	TCGA-KN-8421-01A-11D-2310-10		6510586	74684624	41	40882											
BCAS3	54828	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	17	59118255	59118255	+	Splice_Site	SNP	T	T	G			TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr17:59118255T>G	ENST00000390652.5	+	20	2105		c.e20+2		BCAS3_ENST00000589222.1_Splice_Site|BCAS3_ENST00000588874.1_Splice_Site|RP11-264B14.1_ENST00000588604.1_RNA|BCAS3_ENST00000407086.3_Splice_Site|BCAS3_ENST00000588462.1_Splice_Site|BCAS3_ENST00000408905.3_Splice_Site|BCAS3_ENST00000585744.1_Splice_Site	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)			TTGCTGGCCGTAAGTAGTTCA	0.428																																																0													114	110	111					17																	59118255		1919	4140	6059	SO:0001630	splice_region_variant	54828			AF361219	CCDS11626.1, CCDS45749.1	17q23.2	2013-06-25			ENSG00000141376	ENSG00000141376		"WD repeat domain containing"	14347	protein-coding gene	gene with protein product		607470				12378525	Standard	NM_017679		Approved	FLJ20128	uc002iyv.4	Q9H6U6	OTTHUMG00000180064	ENST00000390652.5:c.2074+2T>G	17.37:g.59118255T>G				Splice_Site	SNP	ENST00000390652.5	37	CCDS45749.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.476995	0.84640	.	.	ENSG00000141376	ENST00000390652;ENST00000407086;ENST00000408905;ENST00000360207	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2267	0.73357	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	BCAS3	56473037	1.000000	0.71417	0.988000	0.46212	0.910000	0.53928	7.194000	0.77789	2.007000	0.58848	0.528000	0.53228	.		0.428	BCAS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449578.1	NM_017679	Intron	G	59118255	T	G	59118255	5	3	727	1	0	0	0	0	0	0	1	0	1352	1652	57	5	2150	5	BCAS3	17	59118255	Splice_Site	SNP	T	TCGA-KN-8421-01A-11D-2310-10	52607669	59118255	22076955	42	40883											
XAB2	56949	mdanderson.org	37	19	7694393	7694393	+	Silent	SNP	G	G	A	rs4134809	byFrequency	TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr19:7694393G>A	ENST00000358368.4	-	1	58	c.21C>T	c.(19-21)ctC>ctT	p.L7L	PET100_ENST00000594797.1_5'Flank|XAB2_ENST00000534844.1_Silent_p.L4L|PET100_ENST00000601406.1_5'Flank|CTD-3214H19.4_ENST00000595866.1_5'Flank|PET100_ENST00000456958.3_5'Flank	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	7					blastocyst development (GO:0001824)|DNA repair (GO:0006281)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						CGGGCCGCGAGAGTCGCGCCA	0.667								Direct reversal of damage;Nucleotide excision repair (NER)					G|||	1320	0.263578	0.2103	0.2219	5008	,	,		14881	0.2083		0.3777	False		,,,				2504	0.3047															0								G		915,3483		96,723,1380	25	27	26		21	-8.9	0	19	dbSNP_108	26	3162,5430		573,2016,1707	no	coding-synonymous	XAB2	NM_020196.2		669,2739,3087	AA,AG,GG		36.8017,20.8049,31.3857		7/856	7694393	4077,8913	2199	4296	6495	SO:0001819	synonymous_variant	56949			AB026111	CCDS32892.1	19p13.3	2013-08-21				ENSG00000076924			14089	protein-coding gene	gene with protein product	"SYF1 homolog, RNA splicing factor (S. cerevisiae)", "SYF1 pre-mRNA-splicing factor"	610850				10944529	Standard	NM_020196		Approved	HCNP, HCRN, SYF1, NTC90	uc002mgx.3	Q9HCS7		ENST00000358368.4:c.21C>T	19.37:g.7694393G>A			Q8TET6|Q96HB0|Q96IW0|Q9NRG6|Q9ULP3	Silent	SNP	ENST00000358368.4	37	CCDS32892.1																																																																																				0.667	XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461021.1	NM_020196		A	7694393	G	A	7694393	2	1	727	1	0	0	0	0	0	0	0	1	17423	929	33	2		2	XAB2	19	7694393	Silent	SNP	G	TCGA-KN-8421-01A-11D-2310-10		7694393	51434590	43	40884											
VSTM1	284415	hgsc.bcm.edu;mdanderson.org	37	19	54561798	54561798	+	Silent	SNP	A	A	T			TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr19:54561798A>T	ENST00000338372.2	-	3	292	c.117T>A	c.(115-117)gtT>gtA	p.V39V	VSTM1_ENST00000366170.2_Intron|VSTM1_ENST00000376626.1_Silent_p.V39V|VSTM1_ENST00000425006.2_Silent_p.V39V	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	39	Ig-like V-type.				immune system process (GO:0002376)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		TCTCGGCTTCAACCACCGAGC	0.502																																																0													90	92	91					19																	54561798		2203	4300	6503	SO:0001819	synonymous_variant	284415			AY358542	CCDS12872.1, CCDS74441.1, CCDS74442.1	19q13.42	2013-01-11			ENSG00000189068	ENSG00000189068		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29455	protein-coding gene	gene with protein product						12975309	Standard	NM_198481		Approved	UNQ3033	uc002qcw.4	Q6UX27	OTTHUMG00000064906	ENST00000338372.2:c.117T>A	19.37:g.54561798A>T			B6A8C6|D2DJS3|D2DJS4|Q496B6|Q496B7	Silent	SNP	ENST00000338372.2	37	CCDS12872.1																																																																																				0.502	VSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139358.3	NM_198481		T	54561798	A	T	54561798	2	4	727	1	0	0	0	0	0	0	0	1	17233	117	5	5		5	VSTM1	19	54561798	Silent	SNP	A	TCGA-KN-8421-01A-11D-2310-10	46867405	54561798	4567185	44	40885											
NLRP7	199713	ucsc.edu;mdanderson.org;bcgsc.ca	37	19	55447692	55447692	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr19:55447692C>T	ENST00000590030.1	-	5	2277	c.2237G>A	c.(2236-2238)cGc>cAc	p.R746H	NLRP7_ENST00000446217.1_Missense_Mutation_p.R774H|NLRP7_ENST00000592784.1_Missense_Mutation_p.R746H|NLRP7_ENST00000340844.2_Missense_Mutation_p.R746H|NLRP7_ENST00000588756.1_Missense_Mutation_p.R746H|NLRP7_ENST00000448121.2_Missense_Mutation_p.R718H|NLRP7_ENST00000328092.5_Missense_Mutation_p.R718H			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	746							ATP binding (GO:0005524)	p.R746H(1)|p.R718H(1)		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)		CATCATCGTGCGTTCCCACTC	0.572																																																2	Substitution - Missense(2)	lung(2)											127	95	106					19																	55447692		2203	4300	6503	SO:0001583	missense	199713			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.2237G>A	19.37:g.55447692C>T	ENSP00000465520:p.Arg746His		E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.710327	0.30322	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217;ENST00000399724	T;T;T	0.53206	0.63;0.63;0.63	1.95	0.909	0.19332	.	.	.	.	.	T	0.43986	0.1272	L	0.33485	1.01	0.09310	N	1	D;D;D;D	0.71674	0.998;0.998;0.998;0.997	P;P;P;P	0.57468	0.813;0.743;0.743;0.821	T	0.22487	-1.0215	9	0.34782	T	0.22	.	3.3391	0.07111	0.0:0.24:0.0:0.76	.	774;746;746;718	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	H	746;718;746;774;513	ENSP00000409137:R718H;ENSP00000339491:R746H;ENSP00000414273:R774H	ENSP00000329568:R746H	R	-	2	0	NLRP7	60139504	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.980000	0.03770	0.240000	0.21263	-0.367000	0.07326	CGC		0.572	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		T	55447692	C	T	55447692	3	4	727	1	0	0	0	0	1	0	0	0	10484	768	27	1	900	1	NLRP7	19	55447692	Missense_Mutation	SNP	C	TCGA-KN-8421-01A-11D-2310-10	885894	55447692	3681291	45	40886											
SNRPB2	6629	mdanderson.org;bcgsc.ca	37	20	16717906	16717906	+	Splice_Site	SNP	C	C	T			TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr20:16717906C>T	ENST00000246071.6	+	4	454	c.238C>T	c.(238-240)Cga>Tga	p.R80*	SNRPB2_ENST00000377943.5_Splice_Site_p.R80*	NM_003092.4	NP_003083.1	P08579	RU2B_HUMAN	small nuclear ribonucleoprotein polypeptide B	80	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2 snRNP (GO:0005686)	nucleotide binding (GO:0000166)|snRNA binding (GO:0017069)			large_intestine(2)|lung(2)|urinary_tract(1)	5						ATTAAAACAGCGAATACAGTA	0.299																																																0													48	47	47					20																	16717906		2202	4300	6502	SO:0001630	splice_region_variant	6629				CCDS13123.1	20p12.1	2013-02-12	2010-07-07		ENSG00000125870	ENSG00000125870		"RNA binding motif (RRM) containing"	11155	protein-coding gene	gene with protein product		603520	"small nuclear ribonucleoprotein polypeptide B2", "small nuclear ribonucleoprotein polypeptide B''"			2951739	Standard	NM_198220		Approved	Msl1	uc002wpi.2	P08579	OTTHUMG00000031933	ENST00000246071.6:c.238-1C>T	20.37:g.16717906C>T			B2R7J3|D3DW21|Q9UJD4	Nonsense_Mutation	SNP	ENST00000246071.6	37	CCDS13123.1	.	.	.	.	.	.	.	.	.	.	C	37	6.507542	0.97624	.	.	ENSG00000125870	ENST00000377943;ENST00000246071	.	.	.	5.76	3.74	0.42951	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.9868	13.6047	0.62039	0.4197:0.5803:0.0:0.0	.	.	.	.	X	80	.	.	R	+	1	2	SNRPB2	16665906	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.811000	0.27198	0.710000	0.31997	0.655000	0.94253	CGA		0.299	SNRPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078110.1	NM_003092	Nonsense_Mutation	T	16717906	C	T	16717906	5	4	727	1	0	0	0	0	0	0	1	0	14868	782	27	1	248	1	SNRPB2	20	16717906	Splice_Site	SNP	C	TCGA-KN-8421-01A-11D-2310-10		16717906	46307614	46	40887											
SFRS6	6431	broad.mit.edu	37	20	42089576	42089576	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr20:42089576C>T	ENST00000244020.3	+	6	1014	c.908C>T	c.(907-909)tCg>tTg	p.S303L		NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN	serine/arginine-rich splicing factor 6	303	Arg/Ser-rich (RS domain).				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						CGTTCCAATTCGCCGCTACCT	0.493																																																0													83	81	82					20																	42089576		2203	4300	6503	SO:0001583	missense	6431			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.908C>T	20.37:g.42089576C>T	ENSP00000244020:p.Ser303Leu		B7Z6J3|E1P5W6|Q13244|Q13245|Q96J06|Q9UJB8|Q9Y3N7	Missense_Mutation	SNP	ENST00000244020.3	37	CCDS13318.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.589874	0.46214	.	.	ENSG00000124193	ENST00000244020	T	0.39997	1.05	5.93	5.93	0.95920	.	0.115021	0.64402	D	0.000012	T	0.50667	0.1629	M	0.79693	2.465	0.42950	D	0.994375	B	0.15473	0.013	B	0.06405	0.002	T	0.48714	-0.9011	10	0.52906	T	0.07	.	19.1112	0.93317	0.0:1.0:0.0:0.0	.	303	Q13247	SRSF6_HUMAN	L	303	ENSP00000244020:S303L	ENSP00000244020:S303L	S	+	2	0	SRSF6	41522990	.	.	0.998000	0.56505	0.906000	0.53458	.	.	2.803000	0.96430	0.585000	0.79938	TCG		0.493	SRSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079292.1	NM_006275		T	42089576	C	T	42089576	3	4	727	1	0	0	0	0	1	0	0	0	14187	893	31	1	930	1	SFRS6	20	42089576	Missense_Mutation	SNP	C	TCGA-KN-8421-01A-11D-2310-10	25371670	42089576	20935944	47	40888											
WFDC5	149708	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	20	43739299	43739299	+	Missense_Mutation	SNP	C	C	T	rs370436377		TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr20:43739299C>T	ENST00000307971.4	-	2	281	c.203G>A	c.(202-204)cGc>cAc	p.R68H	WFDC5_ENST00000372789.4_Missense_Mutation_p.R68H			Q8TCV5	WFDC5_HUMAN	WAP four-disulfide core domain 5	68	WAP 1. {ECO:0000255|PROSITE- ProRule:PRU00722}.					extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5		Myeloproliferative disorder(115;0.0122)				GACACACTGGCGGAAGCAAGC	0.622																																					NSCLC(199;98 2227 9943 13455 41914)											0								C	HIS/ARG	0,4406		0,0,2203	73	59	64		203	-1.9	1	20		64	1,8599	1.2+/-3.3	0,1,4299	no	missense	WFDC5	NM_145652.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	68/124	43739299	1,13005	2203	4300	6503	SO:0001583	missense	149708			AY038181	CCDS33475.1	20q13.11	2013-01-21			ENSG00000175121	ENSG00000175121		"WAP four-disulfide core domain containing"	20477	protein-coding gene	gene with protein product		605161				12206714, 10680116	Standard	NM_145652		Approved	WAP1, dJ211D12.5	uc002xne.2	Q8TCV5	OTTHUMG00000046411	ENST00000307971.4:c.203G>A	20.37:g.43739299C>T	ENSP00000312381:p.Arg68His		Q5H981|Q6UWE4	Missense_Mutation	SNP	ENST00000307971.4	37		.	.	.	.	.	.	.	.	.	.	C	21.4	4.148427	0.78001	0.0	1.16E-4	ENSG00000175121	ENST00000372789;ENST00000307971	T;T	0.74002	-0.8;-0.8	5.24	-1.92	0.07618	Whey acidic protein, 4-disulphide core (5);	0.707661	0.12732	N	0.443738	T	0.77336	0.4115	L	0.41961	1.31	0.24345	N	0.994946	D	0.89917	1.0	D	0.78314	0.991	T	0.69323	-0.5175	10	0.14252	T	0.57	-35.335	14.0095	0.64486	0.6716:0.3284:0.0:0.0	.	68	Q8TCV5	WFDC5_HUMAN	H	68	ENSP00000361875:R68H;ENSP00000312381:R68H	ENSP00000312381:R68H	R	-	2	0	WFDC5	43172713	0.994000	0.37717	0.997000	0.53966	0.920000	0.55202	-0.019000	0.12546	-0.117000	0.11872	0.585000	0.79938	CGC		0.622	WFDC5-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000107192.1			T	43739299	C	T	43739299	3	4	727	1	0	0	0	0	1	0	0	0	17359	768	27	1	180	1	WFDC5	20	43739299	Missense_Mutation	SNP	C	TCGA-KN-8421-01A-11D-2310-10	1649723	43739299	19286221	48	40889											
TMPRSS15	5651	broad.mit.edu;mdanderson.org	37	21	19744529	19744529	+	Silent	SNP	G	G	A			TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr21:19744529G>A	ENST00000284885.3	-	6	678	c.645C>T	c.(643-645)gaC>gaT	p.D215D		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	215	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.					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						TATTGTCTTCGTCAGAACCAT	0.443																																																0													139	117	124					21																	19744529		2203	4300	6503	SO:0001819	synonymous_variant	5651				CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"Serine peptidases / Transmembrane"	9490	protein-coding gene	gene with protein product	"proenterokinase", "enteropeptidase"	606635	"protease, serine, 7 (enterokinase)"	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.645C>T	21.37:g.19744529G>A			Q2NKL7	Silent	SNP	ENST00000284885.3	37	CCDS13571.1																																																																																				0.443	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		A	19744529	G	A	19744529	2	1	727	1	0	0	0	0	0	0	0	1	16251	1136	40	1		1	TMPRSS15	21	19744529	Silent	SNP	G	TCGA-KN-8421-01A-11D-2310-10		19744529	28385366	49	40890											
B3GALT5	10317	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	21	41033159	41033159	+	Missense_Mutation	SNP	G	G	A	rs144752439		TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr21:41033159G>A	ENST00000380620.4	+	5	1265	c.673G>A	c.(673-675)Gtg>Atg	p.V225M	B3GALT5_ENST00000343118.4_Missense_Mutation_p.V225M|B3GALT5_ENST00000398714.2_Missense_Mutation_p.V225M|AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000380618.1_Missense_Mutation_p.V225M			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5	225					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)				TTCTGGCGACGTGGCGAGTCA	0.522																																																0								G	MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	86	85	86		673,673,673,673,673	3.3	0.1	21	dbSNP_134	86	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	B3GALT5	NM_006057.1,NM_033170.1,NM_033171.1,NM_033172.1,NM_033173.1	21,21,21,21,21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	225/311,225/311,225/311,225/311,225/311	41033159	1,13005	2203	4300	6503	SO:0001583	missense	10317			AB020337	CCDS13667.1, CCDS74795.1	21q22.3	2013-02-19			ENSG00000183778	ENSG00000183778		"Beta 3-glycosyltransferases"	920	protein-coding gene	gene with protein product	"homolog of C. elegans Bt toxin resistance gene bre-5", "GlcNAc-beta-1,3-galactosyltransferase 5"	604066				10212226	Standard	NM_006057		Approved	beta3Gal-T5, B3GalT-V, GLCT5, B3T5	uc002yyj.1	Q9Y2C3	OTTHUMG00000086725	ENST00000380620.4:c.673G>A	21.37:g.41033159G>A	ENSP00000369994:p.Val225Met		A8KA86|D3DSI3|Q2M3L5|Q53Z19|Q9NY96|Q9P1X6|Q9P1X7	Missense_Mutation	SNP	ENST00000380620.4	37	CCDS13667.1	.	.	.	.	.	.	.	.	.	.	G	12.47	1.947287	0.34377	2.27E-4	0.0	ENSG00000183778	ENST00000380620;ENST00000380618;ENST00000343118;ENST00000398714	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.49	3.35	0.38373	.	0.114937	0.36555	N	0.002538	T	0.61073	0.2318	M	0.72576	2.205	0.42482	D	0.992867	D	0.89917	1.0	D	0.76071	0.987	T	0.65639	-0.6119	10	0.59425	D	0.04	.	12.7459	0.57281	0.1557:0.0:0.8443:0.0	.	225	Q9Y2C3	B3GT5_HUMAN	M	225	ENSP00000369994:V225M;ENSP00000369992:V225M;ENSP00000343318:V225M;ENSP00000381699:V225M	ENSP00000343318:V225M	V	+	1	0	B3GALT5	39955029	0.643000	0.27269	0.114000	0.21550	0.059000	0.15707	0.976000	0.29462	1.324000	0.45282	0.655000	0.94253	GTG		0.522	B3GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195008.2	NM_033170		A	41033159	G	A	41033159	3	1	727	1	0	0	0	0	1	0	0	0	1250	1145	40	1	675	1	B3GALT5	21	41033159	Missense_Mutation	SNP	G	TCGA-KN-8421-01A-11D-2310-10	21288630	41033159	7096736	50	40891											
KRTAP10-2	386679	mdanderson.org	37	21	45971081	45971081	+	Silent	SNP	C	C	T			TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr21:45971081C>T	ENST00000391621.1	-	1	307	c.261G>A	c.(259-261)ccG>ccA	p.P87P	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron|KRTAP10-2_ENST00000498210.1_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	87	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				large_intestine(1)|lung(4)|skin(1)	6						TGCAGCAAGCCGGCTGGCAGC	0.687																																																0													57	61	60					21																	45971081		2202	4292	6494	SO:0001819	synonymous_variant	386679			AJ566381	CCDS42955.1	21q22.3	2007-10-05			ENSG00000205445	ENSG00000205445		"Keratin associated proteins"	22967	protein-coding gene	gene with protein product				KRTAP18-2			Standard	NM_198693		Approved	KAP10.2, KAP18.2	uc002zfi.1	P60368	OTTHUMG00000057625	ENST00000391621.1:c.261G>A	21.37:g.45971081C>T			Q70LJ5	Silent	SNP	ENST00000391621.1	37	CCDS42955.1																																																																																				0.687	KRTAP10-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128027.1			T	45971081	C	T	45971081	2	4	727	1	0	0	0	0	0	0	0	1	8511	639	23	1		1	KRTAP10-2	21	45971081	Silent	SNP	C	TCGA-KN-8421-01A-11D-2310-10	4937922	45971081	2158814	51	40892											
GAS2L1	10634	ucsc.edu;mdanderson.org	37	22	29704662	29704662	+	Silent	SNP	C	C	G	rs56037813	byFrequency	TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr22:29704662C>G	ENST00000406549.3	+	2	717	c.567C>G	c.(565-567)ccC>ccG	p.P189P	GAS2L1_ENST00000360113.2_Silent_p.P189P|GAS2L1_ENST00000407647.2_Silent_p.P189P|GAS2L1_ENST00000403764.1_Silent_p.P189P|GAS2L1_ENST00000471961.1_Silent_p.P189P|GAS2L1_ENST00000341313.6_Silent_p.P189P|GAS2L1_ENST00000407854.1_Silent_p.P189P	NM_001278730.1	NP_001265659.1	Q99501	GA2L1_HUMAN	growth arrest-specific 2 like 1	189					cell cycle arrest (GO:0007050)|cellular response to starvation (GO:0009267)|cellular response to thyroid hormone stimulus (GO:0097067)|microtubule bundle formation (GO:0001578)|negative regulation of cell growth (GO:0030308)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of gene expression (GO:0010629)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)|thyroid hormone receptor binding (GO:0046966)			endometrium(2)|lung(2)|prostate(1)	5						AAACCGCCCCCGCACCAGGGA	0.706													C|||	99	0.0197684	0.0023	0.0274	5008	,	,		13609	0.0		0.0706	False		,,,				2504	0.0061															0								C	,,	51,4287		0,51,2118	8	12	11		567,567,567	-9.1	0	22	dbSNP_129	11	506,8000		17,472,3764	no	coding-synonymous,coding-synonymous,coding-synonymous	GAS2L1	NM_006478.3,NM_152236.1,NM_152237.1	,,	17,523,5882	GG,GC,CC		5.9487,1.1757,4.3367	,,	189/682,189/682,189/338	29704662	557,12287	2169	4253	6422	SO:0001819	synonymous_variant	10634			BC001782	CCDS63438.1, CCDS74840.1	22q12.2	2008-06-11			ENSG00000185340	ENSG00000185340			16955	protein-coding gene	gene with protein product		602128				8975699, 12584248, 1607387	Standard	NM_001278730		Approved	GAR22	uc003afc.1	Q99501	OTTHUMG00000151108	ENST00000406549.3:c.567C>G	22.37:g.29704662C>G			B5MCR7|Q53EN7|Q92640|Q9BUY9	Silent	SNP	ENST00000406549.3	37																																																																																					0.706	GAS2L1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000321365.1	NM_006478		G	29704662	C	G	29704662	2	3	727	1	0	0	0	0	0	0	0	1	6248	639	23	4		4	GAS2L1	22	29704662	Silent	SNP	C	TCGA-KN-8421-01A-11D-2310-10		29704662	21599904	52	40893											
ELFN2	114794	bcgsc.ca	37	22	37770611	37770611	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr22:37770611T>C	ENST00000402918.2	-	3	1749	c.964A>G	c.(964-966)Atg>Gtg	p.M322V	RP1-63G5.8_ENST00000609322.1_RNA|ELFN2_ENST00000435824.1_5'Flank|RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	322	Fibronectin type-III.				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)					AGGATGTACATCTTGCTGTAG	0.582																																																0													355	319	331					22																	37770611		2203	4300	6503	SO:0001583	missense	114794			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.964A>G	22.37:g.37770611T>C	ENSP00000385277:p.Met322Val		Q96PY3	Missense_Mutation	SNP	ENST00000402918.2	37	CCDS33642.1	.	.	.	.	.	.	.	.	.	.	T	10.64	1.406807	0.25378	.	.	ENSG00000166897	ENST00000349653;ENST00000402918	T;T	0.04194	3.68;3.68	5.24	4.12	0.48240	.	0.045384	0.85682	D	0.000000	T	0.08223	0.0205	M	0.64997	1.995	0.45594	D	0.998538	P	0.36412	0.552	B	0.37731	0.257	T	0.07347	-1.0777	10	0.62326	D	0.03	-38.7595	12.568	0.56320	0.0:0.0:0.2406:0.7594	.	322	Q5R3F8	PPR29_HUMAN	V	322	ENSP00000300147:M322V;ENSP00000385277:M322V	ENSP00000300147:M322V	M	-	1	0	ELFN2	36100557	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.084000	0.57650	1.979000	0.57680	0.496000	0.49642	ATG		0.582	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318900.2	NM_052906		C	37770611	T	C	37770611	3	2	727	1	0	0	0	0	1	0	0	0	5060	1435	50	3	1502	3	ELFN2	22	37770611	Missense_Mutation	SNP	T	TCGA-KN-8421-01A-11D-2310-10	8065949	37770611	13533955	53	40894											
ZRSR2	8233	mdanderson.org	37	X	15838366	15838366	+	Silent	SNP	C	C	T	rs2301724	byFrequency	TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chrX:15838366C>T	ENST00000307771.7	+	10	888	c.864C>T	c.(862-864)aaC>aaT	p.N288N		NM_005089.3	NP_005080.1	Q15696	U2AFM_HUMAN	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2	288	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	U12-type spliceosomal complex (GO:0005689)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|pre-mRNA 3'-splice site binding (GO:0030628)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2)	48	Hepatocellular(33;0.183)					CTCTGTTTAACGGACGATGGT	0.413			"F, S, Mis"		"MDS, CLL"								C|||	2105	0.557616	0.4191	0.4035	3775	,	,		15276	0.4504		0.3976	False		,,,				2504	0.4264				NSCLC(197;1631 3042 5741 31152)		Rec	yes		X	Xp22.1	8233	"zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2"		L	0								C		2087,1748		475,822,315,335,256	162	153	156		864	-3.4	0.7	X	dbSNP_100	156	3278,3450		555,1233,935,640,937	no	coding-synonymous	ZRSR2	NM_005089.3		1030,2055,1250,975,1193	TT,TC,T,CC,C		48.7218,45.5802,49.2095		288/483	15838366	5365,5198	2203	4300	6503	SO:0001819	synonymous_variant	8233			BC050451	CCDS14172.1	Xp22.1	2014-09-17	2006-09-26	2006-09-26	ENSG00000169249	ENSG00000169249		"Zinc fingers, CCCH-type domain containing", "RNA binding motif (RRM) containing"	23019	protein-coding gene	gene with protein product		300028	"U2(RNU2) small nuclear RNA auxiliary factor 1-like 2", "U2 small nuclear RNA auxiliary factor 1-like 2"	U2AF1L2		8586425, 9237760, 15146077	Standard	NM_005089		Approved	U2AF1-RS2, URP	uc004cxg.4	Q15696	OTTHUMG00000021184	ENST00000307771.7:c.864C>T	X.37:g.15838366C>T			Q14D69	Silent	SNP	ENST00000307771.7	37	CCDS14172.1																																																																																				0.413	ZRSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055889.1	NM_005089		T	15838366	C	T	15838366	2	4	727	1	0	0	0	0	0	0	0	1	18230	535	19	1		1	ZRSR2	23	15838366	Silent	SNP	C	TCGA-KN-8421-01A-11D-2310-10		15838366	139432194	54	40895											
NKAP	79576	broad.mit.edu	37	X	119072773	119072773	+	Splice_Site	SNP	C	C	T			TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chrX:119072773C>T	ENST00000371410.3	-	2	553	c.387G>A	c.(385-387)aaG>aaA	p.K129K	NKAP_ENST00000477789.1_5'Flank	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	129					granulocyte differentiation (GO:0030851)|hematopoietic stem cell proliferation (GO:0071425)|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 alpha-beta T cell differentiation (GO:0046638)|stem cell maintenance (GO:0019827)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						CACTTAATCTCCTAGCAGATA	0.348																																																0													70	71	70					X																	119072773		2203	4297	6500	SO:0001630	splice_region_variant	79576			BC012770	CCDS14592.1	Xq24	2010-07-20			ENSG00000101882	ENSG00000101882			29873	protein-coding gene	gene with protein product	"NF kappaB activating protein"	300766				14550261	Standard	NM_024528		Approved	FLJ22626	uc004esh.3	Q8N5F7	OTTHUMG00000022284	ENST00000371410.3:c.387-1G>A	X.37:g.119072773C>T			Q6IPW6|Q96BQ2|Q9H638	Silent	SNP	ENST00000371410.3	37	CCDS14592.1																																																																																				0.348	NKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058072.1	NM_024528	Silent	T	119072773	C	T	119072773	5	4	727	1	0	0	0	0	0	0	1	0	10441	869	30	2	892	2	NKAP	23	119072773	Splice_Site	SNP	C	TCGA-KN-8421-01A-11D-2310-10	103234407	119072773	36197787	55	40896											
ZBTB33	10009	broad.mit.edu	37	X	119389135	119389135	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chrX:119389135G>A	ENST00000326624.2	+	2	2093	c.1865G>A	c.(1864-1866)gGa>gAa	p.G622E	ZBTB33_ENST00000557385.1_Missense_Mutation_p.G622E	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	622	Interaction with CTNND1. {ECO:0000250}.|Required for DNA-binding. {ECO:0000250}.				intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						GTTGACACTGGAAAAGAACCT	0.378																																																0													108	102	104					X																	119389135		2202	4300	6502	SO:0001583	missense	10009			BC042753	CCDS14596.1	Xq23	2013-01-09			ENSG00000177485	ENSG00000177485		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	16682	protein-coding gene	gene with protein product		300329					Standard	NM_001184742		Approved	ZNF-kaiso, kaiso, WUGSC:H_DJ525N14.1, KAISO, ZNF348	uc004esn.1	Q86T24	OTTHUMG00000171159	ENST00000326624.2:c.1865G>A	X.37:g.119389135G>A	ENSP00000314153:p.Gly622Glu		B2R5U6|O00319|Q7Z361|Q8IVP6|Q8N3P0	Missense_Mutation	SNP	ENST00000326624.2	37	CCDS14596.1	.	.	.	.	.	.	.	.	.	.	G	7.271	0.607135	0.14002	.	.	ENSG00000177485;ENSG00000177485;ENSG00000258974	ENST00000326624;ENST00000540105;ENST00000557385	T;T	0.09255	3.0;3.0	5.88	5.88	0.94601	.	0.436525	0.22660	N	0.057216	T	0.06371	0.0164	N	0.14661	0.345	0.36328	D	0.85869	P	0.37500	0.597	B	0.33799	0.17	T	0.35076	-0.9803	10	0.45353	T	0.12	-4.2508	8.8319	0.35089	0.0812:0.1475:0.7713:0.0	.	622	Q86T24	KAISO_HUMAN	E	622	ENSP00000314153:G622E;ENSP00000450969:G622E	ENSP00000314153:G622E	G	+	2	0	ZBTB33;AC002086.1	119273163	0.999000	0.42202	0.994000	0.49952	0.986000	0.74619	3.660000	0.54496	2.474000	0.83562	0.600000	0.82982	GGA		0.378	ZBTB33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058085.2	NM_006777		A	119389135	G	A	119389135	3	1	727	1	0	0	0	0	1	0	0	0	17541	1174	41	2	1867	2	ZBTB33	23	119389135	Missense_Mutation	SNP	G	TCGA-KN-8421-01A-11D-2310-10	316362	119389135	35881425	56	40897											
PRAMEF1	65121	mdanderson.org	37	1	12854401	12854401	+	Nonsense_Mutation	SNP	G	G	T	rs201717831		TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr1:12854401G>T	ENST00000332296.7	+	3	728	c.625G>T	c.(625-627)Gag>Tag	p.E209*	PRAMEF1_ENST00000400814.3_5'Flank	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	209					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)		TAGTATTCAAGAGCTGGAAAT	0.398																																																0													363	333	343					1																	12854401		2203	4300	6503	SO:0001587	stop_gained	65121			AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"-"	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.625G>T	1.37:g.12854401G>T	ENSP00000332134:p.Glu209*		Q9UQP2	Nonsense_Mutation	SNP	ENST00000332296.7	37	CCDS148.1	.	.	.	.	.	.	.	.	.	.	.	16.09	3.023241	0.54683	.	.	ENSG00000116721	ENST00000332296	.	.	.	1.74	0.76	0.18442	.	0.742629	0.12834	N	0.435382	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	3.5875	0.07977	0.2694:0.0:0.7306:0.0	.	.	.	.	X	209	.	ENSP00000332134:E209X	E	+	1	0	PRAMEF1	12776988	0.002000	0.14202	0.001000	0.08648	0.004000	0.04260	0.426000	0.21363	0.256000	0.21614	0.543000	0.68304	GAG		0.398	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		T	12854401	G	T	12854401	4	4	728	1	0	0	0	0	0	1	0	0	12430	943	33	4	631	4	PRAMEF1	1	12854401	Nonsense_Mutation	SNP	G	TCGA-KN-8422-01A-11D-2310-10		12854401	236396220	1	40898											
PRAMEF4	400735	mdanderson.org	37	1	12939548	12939548	+	Silent	SNP	G	G	C	rs28599804	byFrequency	TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr1:12939548G>C	ENST00000235349.5	-	4	1324	c.1254C>G	c.(1252-1254)ccC>ccG	p.P418P		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	418					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)		AACTCTCCCGGGGGGCAGGAT	0.517																																																0													93	104	100					1																	12939548		1503	2686	4189	SO:0001819	synonymous_variant	400735				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.1254C>G	1.37:g.12939548G>C			Q5LJB5	Silent	SNP	ENST00000235349.5	37	CCDS30592.1																																																																																				0.517	PRAMEF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005518.1	NM_001009611		C	12939548	G	C	12939548	2	2	728	1	0	0	0	0	0	0	0	1	12442	1219	43	4		4	PRAMEF4	1	12939548	Silent	SNP	G	TCGA-KN-8422-01A-11D-2310-10	85147	12939548	236311073	2	40899											
CPT2	1376	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	53676357	53676357	+	Missense_Mutation	SNP	C	C	G			TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr1:53676357C>G	ENST00000371486.3	+	4	1526	c.1011C>G	c.(1009-1011)caC>caG	p.H337Q	RP5-1024G6.2_ENST00000452466.1_RNA	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN	carnitine palmitoyltransferase 2	337					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15					L-Carnitine(DB00583)|Perhexiline(DB01074)	ACCTTGTCCACTTGTCCCACA	0.498																																																0													81	75	77					1																	53676357		2203	4300	6503	SO:0001583	missense	1376			BC002445	CCDS575.1	1p32.3	2014-01-09	2009-03-04		ENSG00000157184	ENSG00000157184	2.3.1.21		2330	protein-coding gene	gene with protein product		600650	"carnitine palmitoyltransferase II"	CPT1		1339389	Standard	NM_000098		Approved	CPTASE	uc001cvb.4	P23786	OTTHUMG00000008942	ENST00000371486.3:c.1011C>G	1.37:g.53676357C>G	ENSP00000360541:p.His337Gln		B2R6S0|Q5SW68|Q9BQ26	Missense_Mutation	SNP	ENST00000371486.3	37	CCDS575.1	.	.	.	.	.	.	.	.	.	.	C	7.566	0.665649	0.14710	.	.	ENSG00000157184	ENST00000371486	D	0.88741	-2.42	5.72	-1.81	0.07882	.	0.086182	0.85682	D	0.000000	D	0.86184	0.5872	L	0.42008	1.315	0.31634	N	0.648631	D	0.55800	0.973	P	0.52514	0.701	D	0.84180	0.0439	10	0.28530	T	0.3	-10.899	11.4141	0.49941	0.0:0.5086:0.0:0.4914	.	337	P23786	CPT2_HUMAN	Q	337	ENSP00000360541:H337Q	ENSP00000360541:H337Q	H	+	3	2	CPT2	53448945	0.998000	0.40836	0.416000	0.26546	0.686000	0.39977	1.073000	0.30691	-0.338000	0.08413	-0.767000	0.03436	CAC		0.498	CPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024757.1	NM_000098		G	53676357	C	G	53676357	3	3	728	1	0	0	0	0	1	0	0	0	3836	564	20	4	1025	4	CPT2	1	53676357	Missense_Mutation	SNP	C	TCGA-KN-8422-01A-11D-2310-10	40736809	53676357	195574264	3	40900											
RBMXL1	494115	mdanderson.org	37	1	89448841	89448841	+	Silent	SNP	T	T	C	rs150045246		TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr1:89448841T>C	ENST00000321792.5	-	2	1096	c.669A>G	c.(667-669)agA>agG	p.R223R	RBMXL1_ENST00000413769.1_5'Flank|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000370491.3_Intron|RBMXL1_ENST00000399794.2_Silent_p.R223R|CCBL2_ENST00000446900.2_Intron	NM_019610.5	NP_062556.2	Q96E39	RMXL1_HUMAN	RNA binding motif protein, X-linked-like 1	223					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)										TTGGGTAATCTCTGCTTGAAT	0.448																																																0													185	168	174					1																	89448841		2203	4300	6503	SO:0001819	synonymous_variant	494115			BC012942	CCDS716.1	1p22.2	2013-02-12	2007-01-04	2007-01-04	ENSG00000213516	ENSG00000213516		"RNA binding motif (RRM) containing"	25073	protein-coding gene	gene with protein product	"kynurenine aminotransferase III"					10441733	Standard	NM_019610		Approved	KAT3	uc001dms.3	Q96E39	OTTHUMG00000010661	ENST00000321792.5:c.669A>G	1.37:g.89448841T>C				Silent	SNP	ENST00000321792.5	37	CCDS716.1																																																																																				0.448	RBMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029403.3	NM_019610		C	89448841	T	C	89448841	2	2	728	1	0	0	0	0	0	0	0	1	13159	1548	54	3		3	RBMXL1	1	89448841	Silent	SNP	T	TCGA-KN-8422-01A-11D-2310-10	35772484	89448841	159801780	4	40901			1	89		2	2	28	N	T_A	5.930681e-05
RBMXL1	494115	mdanderson.org	37	1	89448868	89448868	+	Nonsense_Mutation	SNP	A	A	T	rs200907077		TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr1:89448868A>T	ENST00000321792.5	-	2	1069	c.642T>A	c.(640-642)taT>taA	p.Y214*	RBMXL1_ENST00000413769.1_5'Flank|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000370491.3_Intron|RBMXL1_ENST00000399794.2_Nonsense_Mutation_p.Y214*|CCBL2_ENST00000446900.2_Intron	NM_019610.5	NP_062556.2	Q96E39	RMXL1_HUMAN	RNA binding motif protein, X-linked-like 1	214					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)										CTTTAGTAGAATACCCATCAT	0.453																																																0													158	152	154					1																	89448868		2203	4298	6501	SO:0001587	stop_gained	494115			BC012942	CCDS716.1	1p22.2	2013-02-12	2007-01-04	2007-01-04	ENSG00000213516	ENSG00000213516		"RNA binding motif (RRM) containing"	25073	protein-coding gene	gene with protein product	"kynurenine aminotransferase III"					10441733	Standard	NM_019610		Approved	KAT3	uc001dms.3	Q96E39	OTTHUMG00000010661	ENST00000321792.5:c.642T>A	1.37:g.89448868A>T	ENSP00000318415:p.Tyr214*			Nonsense_Mutation	SNP	ENST00000321792.5	37	CCDS716.1	.	.	.	.	.	.	.	.	.	.	A	38	7.031767	0.98013	.	.	ENSG00000213516	ENST00000321792;ENST00000399794	.	.	.	1.53	-0.998	0.10212	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.4608	5.5401	0.17033	0.3541:0.0:0.6459:0.0	.	.	.	.	X	214	.	ENSP00000318415:Y214X	Y	-	3	2	RBMXL1	89221456	0.964000	0.33143	0.990000	0.47175	0.840000	0.47671	-0.198000	0.09505	-0.074000	0.12820	0.254000	0.18369	TAT		0.453	RBMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029403.3	NM_019610		T	89448868	A	T	89448868	4	4	728	1	0	0	0	0	0	1	0	0	13159	108	4	5	534	5	RBMXL1	1	89448868	Nonsense_Mutation	SNP	A	TCGA-KN-8422-01A-11D-2310-10	27	89448868	159801753	5	40902			1	89		2	2	28	N	T_A	5.930681e-05
RPRD2	23248	broad.mit.edu	37	1	150432553	150432553	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr1:150432553A>G	ENST00000369068.4	+	9	1175	c.1171A>G	c.(1171-1173)Aaa>Gaa	p.K391E	RPRD2_ENST00000401000.4_Missense_Mutation_p.K365E|RPRD2_ENST00000539519.1_Missense_Mutation_p.K365E|RPRD2_ENST00000492220.1_3'UTR	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	391						DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CAGGAAGGAAAAACCTGCAGA	0.403																																																0													90	88	89					1																	150432553		1895	4123	6018	SO:0001583	missense	23248			BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"KIAA0460"	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.1171A>G	1.37:g.150432553A>G	ENSP00000358064:p.Lys391Glu		A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Missense_Mutation	SNP	ENST00000369068.4	37	CCDS44216.1	.	.	.	.	.	.	.	.	.	.	A	15.63	2.889132	0.52014	.	.	ENSG00000163125	ENST00000401000;ENST00000539519;ENST00000369068	T;T;T	0.46451	0.87;0.87;0.87	5.02	5.02	0.67125	.	0.323100	0.33980	N	0.004380	T	0.37679	0.1012	L	0.50333	1.59	0.36784	D	0.884518	P;D;D	0.58268	0.941;0.97;0.982	P;P;P	0.58013	0.453;0.681;0.831	T	0.27226	-1.0080	10	0.33940	T	0.23	-12.9847	9.3946	0.38394	0.9192:0.0:0.0808:0.0	.	365;391;365	B4E2Q6;Q5VT52;Q5VT52-3	.;RPRD2_HUMAN;.	E	365;365;391	ENSP00000383785:K365E;ENSP00000445482:K365E;ENSP00000358064:K391E	ENSP00000358064:K391E	K	+	1	0	RPRD2	148699177	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.345000	0.65987	2.235000	0.73313	0.459000	0.35465	AAA		0.403	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203		G	150432553	A	G	150432553	3	3	728	1	0	0	0	0	1	0	0	0	13623	15	1	3	1205	3	RPRD2	1	150432553	Missense_Mutation	SNP	A	TCGA-KN-8422-01A-11D-2310-10	60983685	150432553	98818068	6	40903											
FLG	2312	mdanderson.org	37	1	152276282	152276282	+	Missense_Mutation	SNP	C	C	G	rs55707024	byFrequency	TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr1:152276282C>G	ENST00000368799.1	-	3	11115	c.11080G>C	c.(11080-11082)Gag>Cag	p.E3694Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3694	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.E3694Q(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)			CGTGTGGACTCTTGGTGGCTC	0.587									Ichthyosis				C|||	911	0.181909	0.0772	0.232	5008	,	,		20697	0.3452		0.1004	False		,,,				2504	0.2035															1	Substitution - Missense(1)	skin(1)											50	56	54					1																	152276282		2202	4278	6480	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.11080G>C	1.37:g.152276282C>G	ENSP00000357789:p.Glu3694Gln		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	8.701	0.909632	0.17833	.	.	ENSG00000143631	ENST00000368799	T	0.01787	4.64	2.52	-3.46	0.04767	.	.	.	.	.	T	0.01454	0.0047	M	0.75447	2.3	0.09310	N	1	D	0.65815	0.995	P	0.61070	0.883	T	0.34254	-0.9836	9	0.20519	T	0.43	.	0.3502	0.00348	0.1921:0.291:0.2301:0.2868	rs55707024;rs58436539	3694	P20930	FILA_HUMAN	Q	3694	ENSP00000357789:E3694Q	ENSP00000357789:E3694Q	E	-	1	0	FLG	150542906	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.189000	0.03061	-0.738000	0.04817	0.552000	0.68991	GAG		0.587	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		G	152276282	C	G	152276282	3	3	728	1	0	0	0	0	1	0	0	0	5924	922	32	4	1109	4	FLG	1	152276282	Missense_Mutation	SNP	C	TCGA-KN-8422-01A-11D-2310-10	1843729	152276282	96974339	7	40904											
PEAR1	375033	broad.mit.edu	37	1	156877478	156877478	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr1:156877478T>C	ENST00000338302.3	+	8	946	c.721T>C	c.(721-723)Ttc>Ctc	p.F241L	PEAR1_ENST00000292357.7_Missense_Mutation_p.F241L			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	241	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				recognition of apoptotic cell (GO:0043654)	integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGGAGGTGTCTTCCAAACCCC	0.617																																																0													126	129	128					1																	156877478		2203	4300	6503	SO:0001583	missense	375033			AK098809	CCDS30892.1	1q23.1	2008-02-05	2007-10-25	2007-10-25	ENSG00000187800	ENSG00000187800			33631	protein-coding gene	gene with protein product		610278	"multiple EGF-like-domains 12"	MEGF12		15851471	Standard	NM_001080471		Approved	JEDI, FLJ00193	uc001fqj.1	Q5VY43	OTTHUMG00000041293	ENST00000338302.3:c.721T>C	1.37:g.156877478T>C	ENSP00000344465:p.Phe241Leu		Q8TEK2	Missense_Mutation	SNP	ENST00000338302.3	37	CCDS30892.1	.	.	.	.	.	.	.	.	.	.	T	17.77	3.470186	0.63625	.	.	ENSG00000187800	ENST00000338302;ENST00000292357	T;T	0.33216	1.42;1.42	5.04	3.91	0.45181	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.873050	0.09701	N	0.766941	T	0.10852	0.0265	L	0.36672	1.1	0.23063	N	0.998359	B;B	0.17465	0.022;0.002	B;B	0.06405	0.002;0.001	T	0.34625	-0.9821	10	0.87932	D	0	.	8.4374	0.32795	0.0:0.0967:0.0:0.9033	.	42;241	Q8N780;Q5VY43	.;PEAR1_HUMAN	L	241	ENSP00000344465:F241L;ENSP00000292357:F241L	ENSP00000292357:F241L	F	+	1	0	PEAR1	155144102	0.994000	0.37717	0.778000	0.31720	0.882000	0.50991	5.023000	0.64084	0.887000	0.36136	0.459000	0.35465	TTC		0.617	PEAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098937.2	NM_001080471		C	156877478	T	C	156877478	3	2	728	1	0	0	0	0	1	0	0	0	11714	1609	56	3	743	3	PEAR1	1	156877478	Missense_Mutation	SNP	T	TCGA-KN-8422-01A-11D-2310-10	4601196	156877478	92373143	8	40905											
OR10Z1	128368	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	158576392	158576392	+	Missense_Mutation	SNP	T	T	A			TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr1:158576392T>A	ENST00000361284.1	+	1	164	c.164T>A	c.(163-165)cTg>cAg	p.L55Q		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	55						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(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					GATAGCCATCTGCACACCCCC	0.512																																																0													257	247	250					1																	158576392		2203	4300	6503	SO:0001583	missense	128368			AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"GPCR / Class A : Olfactory receptors"	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.164T>A	1.37:g.158576392T>A	ENSP00000354707:p.Leu55Gln		Q5VYL0|Q6IFR7	Missense_Mutation	SNP	ENST00000361284.1	37	CCDS30901.1	.	.	.	.	.	.	.	.	.	.	T	17.74	3.465083	0.63513	.	.	ENSG00000198967	ENST00000361284	T	0.14893	2.47	5.36	5.36	0.76844	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32244	N	0.006371	T	0.55000	0.1893	H	0.99689	4.705	0.28824	N	0.897528	D	0.89917	1.0	D	0.87578	0.998	T	0.71417	-0.4599	10	0.87932	D	0	.	14.4836	0.67599	0.0:0.0:0.0:1.0	.	55	Q8NGY1	O10Z1_HUMAN	Q	55	ENSP00000354707:L55Q	ENSP00000354707:L55Q	L	+	2	0	OR10Z1	156843016	1.000000	0.71417	0.142000	0.22268	0.716000	0.41182	7.809000	0.86057	2.246000	0.74042	0.533000	0.62120	CTG		0.512	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478		A	158576392	T	A	158576392	3	1	728	1	0	0	0	0	1	0	0	0	10925	1580	55	5	166	5	OR10Z1	1	158576392	Missense_Mutation	SNP	T	TCGA-KN-8422-01A-11D-2310-10	1698914	158576392	90674229	9	40906											
ACBD3	64746	broad.mit.edu;hgsc.bcm.edu	37	1	226349254	226349255	+	In_Frame_Ins	INS	-	-	TTC			TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr1:226349254_226349255insTTC	ENST00000366812.5	-	4	759_760	c.705_706insGAA	c.(703-708)gaaagg>gaaGAAagg	p.235_236insE	ACBD3_ENST00000464927.1_5'UTR	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	235	Arg-rich.|Glu-rich.				steroid biosynthetic process (GO:0006694)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		AACCGAAGcctttcttcttcta	0.396																																																0																																										SO:0001652	inframe_insertion	64746			AB043587	CCDS1551.1	1q41	2013-10-16	2010-04-30	2003-11-12	ENSG00000182827	ENSG00000182827		"A-kinase anchor proteins"	15453	protein-coding gene	gene with protein product	"PBR- and PKA-associated protein 7"	606809	"golgi complex associated protein 1, 60kDa", "acyl-Coenzyme A binding domain containing 3"	GOLPH1, GOCAP1		12692076, 20150326	Standard	NM_022735		Approved	GCP60, PAP7	uc001hpy.3	Q9H3P7	OTTHUMG00000037560	ENST00000366812.5:c.703_705dupGAA	1.37:g.226349261_226349263dupTTC	ENSP00000355777:p.Glu235_Glu235dup		B2RB29|Q5VTJ0|Q6P9F1|Q8IZC5|Q8N4D6|Q9H6U3	In_Frame_Ins	INS	ENST00000366812.5	37	CCDS1551.1																																																																																				0.396	ACBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091528.1	NM_022735		TTC	226349255	-	TTC	226349254	7	5	728	1	0	1	1	0	0	0	0	0	123	1608	56	0	900	0	ACBD3	1	226349254	In_Frame_Ins	INS	-	TCGA-KN-8422-01A-11D-2310-10	67772862	226349254	22901367	10	40907	366	2									
ACBD3	64746	bcgsc.ca	37	1	226349255	226349256	+	In_Frame_Ins	INS	-	-	TTC			TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr1:226349255_226349256insTTC	ENST00000366812.5	-	4	758_759	c.704_705insGAA	c.(703-705)gaa>gaGAAa	p.235_236insK	ACBD3_ENST00000464927.1_5'UTR	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	235	Arg-rich.|Glu-rich.				steroid biosynthetic process (GO:0006694)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		ACCGAAGcctttcttcttctat	0.401																																																0																																										SO:0001652	inframe_insertion	64746			AB043587	CCDS1551.1	1q41	2013-10-16	2010-04-30	2003-11-12	ENSG00000182827	ENSG00000182827		"A-kinase anchor proteins"	15453	protein-coding gene	gene with protein product	"PBR- and PKA-associated protein 7"	606809	"golgi complex associated protein 1, 60kDa", "acyl-Coenzyme A binding domain containing 3"	GOLPH1, GOCAP1		12692076, 20150326	Standard	NM_022735		Approved	GCP60, PAP7	uc001hpy.3	Q9H3P7	OTTHUMG00000037560	ENST00000366812.5:c.704_705insGAA	1.37:g.226349255_226349256insTTC	ENSP00000355777:p.Glu235_Arg236insLys		B2RB29|Q5VTJ0|Q6P9F1|Q8IZC5|Q8N4D6|Q9H6U3	In_Frame_Ins	INS	ENST00000366812.5	37	CCDS1551.1																																																																																				0.401	ACBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091528.1	NM_022735		TTC	226349256	-	TTC	226349255	7	5	728	1	0	1	1	0	0	0	0	0	123	1838	64	0	901	0	ACBD3	1	226349255	In_Frame_Ins	INS	-	TCGA-KN-8422-01A-11D-2310-10	1	226349255	22901366	11	40908	366	2									
MARCO	8685	hgsc.bcm.edu	37	2	119750740	119750740	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr2:119750740delC	ENST00000327097.4	+	16	1428	c.1293delC	c.(1291-1293)aacfs	p.N431fs	MARCO_ENST00000541757.1_Frame_Shift_Del_p.N353fs	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	431	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)	p.N431K(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GCAGTAGTAACCGAGGCCGGG	0.532																																					GBM(8;18 374 7467 11269 32796)											1	Substitution - Missense(1)	large_intestine(1)											132	124	126					2																	119750740		2203	4300	6503	SO:0001589	frameshift_variant	8685			AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"scavenger receptor class A, member 2"	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.1293delC	2.37:g.119750740delC	ENSP00000318916:p.Asn431fs		B4DW79|Q9Y5S3	Frame_Shift_Del	DEL	ENST00000327097.4	37	CCDS2124.1																																																																																				0.532	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254190.2	NM_006770		-	119750740	C	-	119750740	7	5	728	1	0	1	0	1	0	0	0	0	9313	506	18	0	1355	0	MARCO	2	119750740	Frame_Shift_Del	DEL	C	TCGA-KN-8422-01A-11D-2310-10		119750740	123448633	12	40909	367	2									
MARCO	8685	bcgsc.ca	37	2	119750741	119750741	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr2:119750741delC	ENST00000327097.4	+	16	1429	c.1294delC	c.(1294-1296)cgafs	p.R432fs	MARCO_ENST00000541757.1_Frame_Shift_Del_p.R354fs	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	432	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						CAGTAGTAACCGAGGCCGGGC	0.527																																					GBM(8;18 374 7467 11269 32796)											0													132	124	127					2																	119750741		2203	4300	6503	SO:0001589	frameshift_variant	8685			AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"scavenger receptor class A, member 2"	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.1294delC	2.37:g.119750741delC	ENSP00000318916:p.Arg432fs		B4DW79|Q9Y5S3	Frame_Shift_Del	DEL	ENST00000327097.4	37	CCDS2124.1																																																																																				0.527	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254190.2	NM_006770		-	119750741	C	-	119750741	7	5	728	1	0	1	0	1	0	0	0	0	9313	644	23	0	1356	0	MARCO	2	119750741	Frame_Shift_Del	DEL	C	TCGA-KN-8422-01A-11D-2310-10	1	119750741	123448632	13	40910	367	2									
MFSD6	54842	broad.mit.edu	37	2	191364759	191364759	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr2:191364759G>A	ENST00000392328.1	+	8	2515	c.2191G>A	c.(2191-2193)Gaa>Aaa	p.E731K	MFSD6_ENST00000281416.7_Missense_Mutation_p.E731K|MFSD6_ENST00000535751.1_Missense_Mutation_p.E193K	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	731					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						TGAGAATAGGGAAAATTCTCC	0.468																																																0													65	60	62					2																	191364759		2203	4300	6503	SO:0001583	missense	54842				CCDS2306.1	2q32.2	2008-10-29			ENSG00000151690	ENSG00000151690			24711	protein-coding gene	gene with protein product		613476					Standard	NM_017694		Approved	FLJ20160	uc002urz.2	Q6ZSS7	OTTHUMG00000132671	ENST00000392328.1:c.2191G>A	2.37:g.191364759G>A	ENSP00000376141:p.Glu731Lys		D3KSZ4|Q86TH2|Q9NXM3	Missense_Mutation	SNP	ENST00000392328.1	37	CCDS2306.1	.	.	.	.	.	.	.	.	.	.	G	5.451	0.268328	0.10349	.	.	ENSG00000151690	ENST00000392328;ENST00000281416;ENST00000542423;ENST00000535751	T;T	0.32515	1.45;1.45	5.13	2.36	0.29203	.	1.482540	0.03781	N	0.261270	T	0.16642	0.0400	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22941	-1.0202	10	0.10636	T	0.68	-0.2343	4.8252	0.13412	0.2523:0.1555:0.5922:0.0	.	731	Q6ZSS7	MFSD6_HUMAN	K	731;731;171;193	ENSP00000376141:E731K;ENSP00000281416:E731K	ENSP00000281416:E731K	E	+	1	0	MFSD6	191073004	0.006000	0.16342	0.006000	0.13384	0.472000	0.32918	0.495000	0.22483	0.328000	0.23435	-0.122000	0.15005	GAA		0.468	MFSD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255931.1			A	191364759	G	A	191364759	3	1	728	1	0	0	0	0	1	0	0	0	9537	1175	41	2	2213	2	MFSD6	2	191364759	Missense_Mutation	SNP	G	TCGA-KN-8422-01A-11D-2310-10	71614018	191364759	51834614	14	40911											
BHLHE40	8553	broad.mit.edu;mdanderson.org;bcgsc.ca	37	3	5025274	5025274	+	Missense_Mutation	SNP	A	A	C			TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr3:5025274A>C	ENST00000256495.3	+	5	1739	c.1136A>C	c.(1135-1137)cAg>cCg	p.Q379P		NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	379					circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|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)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|MRF binding (GO:0043426)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|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)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						CTCATGCCCCAGAGACTCCCT	0.557																																																0													145	142	143					3																	5025274		2203	4300	6503	SO:0001583	missense	8553			AB004066	CCDS2565.1	3p26	2009-01-12	2009-01-12	2009-01-12	ENSG00000134107	ENSG00000134107		"Basic helix-loop-helix proteins"	1046	protein-coding gene	gene with protein product	"differentially expressed in chondrocytes 1", " differentiated embryo chondrocyte expressed gene 1"	604256	"basic helix-loop-helix domain containing, class B, 2"	STRA13, BHLHB2		9240428, 10449910, 18557763	Standard	NM_003670		Approved	DEC1, bHLHe40	uc003bqf.3	O14503	OTTHUMG00000119035	ENST00000256495.3:c.1136A>C	3.37:g.5025274A>C	ENSP00000256495:p.Gln379Pro		Q96TD3	Missense_Mutation	SNP	ENST00000256495.3	37	CCDS2565.1	.	.	.	.	.	.	.	.	.	.	A	11.57	1.676777	0.29783	.	.	ENSG00000134107	ENST00000256495	T	0.37411	1.2	5.51	5.51	0.81932	.	0.000000	0.56097	D	0.000024	T	0.26085	0.0636	N	0.25144	0.715	0.53688	D	0.999975	B	0.09022	0.002	B	0.09377	0.004	T	0.06320	-1.0833	10	0.18710	T	0.47	.	15.6247	0.76845	1.0:0.0:0.0:0.0	.	379	O14503	BHE40_HUMAN	P	379	ENSP00000256495:Q379P	ENSP00000256495:Q379P	Q	+	2	0	BHLHE40	5000274	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.403000	0.73264	2.093000	0.63338	0.533000	0.62120	CAG		0.557	BHLHE40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239244.2	NM_003670		C	5025274	A	C	5025274	3	2	728	1	0	0	0	0	1	0	0	0	1423	188	7	5	1154	5	BHLHE40	3	5025274	Missense_Mutation	SNP	A	TCGA-KN-8422-01A-11D-2310-10		5025274	192997156	15	40912											
CLASP2	23122	ucsc.edu;mdanderson.org	37	3	33586217	33586217	+	Silent	SNP	G	G	A			TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr3:33586217G>A	ENST00000468888.2	-	31	3340	c.3294C>T	c.(3292-3294)caC>caT	p.H1098H	CLASP2_ENST00000539981.1_Silent_p.H867H|CLASP2_ENST00000399362.4_Silent_p.H1097H|CLASP2_ENST00000461133.3_Silent_p.H857H|CLASP2_ENST00000480013.1_Silent_p.H877H|CLASP2_ENST00000359576.5_Silent_p.H1089H|CLASP2_ENST00000307312.7_Silent_p.H579H			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	878	Interaction with RSN and localization to the Golgi and kinetochores.|Required for cortical localization.				axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						TGTTTCGAAGGTGATTATGAA	0.328																																																0													97	93	94					3																	33586217		1840	4082	5922	SO:0001819	synonymous_variant	23122			AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.3294C>T	3.37:g.33586217G>A			Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Silent	SNP	ENST00000468888.2	37		.	.	.	.	.	.	.	.	.	.	G	8.326	0.825430	0.16749	.	.	ENSG00000163539	ENST00000480385	.	.	.	5.62	4.74	0.60224	.	.	.	.	.	T	0.62073	0.2398	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58836	-0.7566	4	.	.	.	-10.8157	11.1819	0.48633	0.1383:0.0:0.8617:0.0	.	.	.	.	S	154	.	.	P	-	1	0	CLASP2	33561221	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.305000	0.51873	2.631000	0.89168	0.650000	0.86243	CCT		0.328	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000344320.4	NM_001207044		A	33586217	G	A	33586217	2	1	728	1	0	0	0	0	0	0	0	1	3457	1252	44	2		2	CLASP2	3	33586217	Silent	SNP	G	TCGA-KN-8422-01A-11D-2310-10	28560943	33586217	164436213	16	40913											
KBTBD5	131377	hgsc.bcm.edu	37	3	42730128	42730128	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr3:42730128C>T	ENST00000287777.4	+	3	1440	c.1340C>T	c.(1339-1341)cCg>cTg	p.P447L		NM_152393.2	NP_689606.2	Q2TBA0	KLH40_HUMAN	kelch-like family member 40	447					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)											GAATCGGACCCGCTGCCTTAC	0.612																																																0													82	67	72					3																	42730128		2203	4300	6503	SO:0001583	missense	131377			AK056577	CCDS2703.1	3p21.33	2013-07-30	2013-02-22	2013-01-08	ENSG00000157119	ENSG00000157119		"Kelch-like", "BTB/POZ domain containing"	30372	protein-coding gene	gene with protein product	"sarcosynapsin", "nemaline myopathy type 8"	615340	"kelch repeat and BTB (POZ) domain containing 5", "kelch-like 40 (Drosophila)"	KBTBD5		23746549	Standard	NM_152393		Approved	SRYP, NEM8	uc003clv.1	Q2TBA0	OTTHUMG00000133045	ENST00000287777.4:c.1340C>T	3.37:g.42730128C>T	ENSP00000287777:p.Pro447Leu		Q86SI1|Q96MR2	Missense_Mutation	SNP	ENST00000287777.4	37	CCDS2703.1	.	.	.	.	.	.	.	.	.	.	c	15.52	2.857538	0.51376	.	.	ENSG00000157119	ENST00000287777;ENST00000452129	T	0.69806	-0.43	4.55	4.55	0.56014	Kelch-type beta propeller (1);	0.359095	0.32093	N	0.006600	T	0.81716	0.4881	H	0.94345	3.525	0.58432	D	0.999996	P	0.49696	0.927	P	0.49387	0.609	D	0.88197	0.2881	10	0.72032	D	0.01	.	17.3734	0.87384	0.0:1.0:0.0:0.0	.	447	Q2TBA0	KBTB5_HUMAN	L	447;192	ENSP00000287777:P447L	ENSP00000287777:P447L	P	+	2	0	KBTBD5	42705132	1.000000	0.71417	1.000000	0.80357	0.594000	0.36715	5.884000	0.69729	2.107000	0.64212	0.444000	0.29173	CCG		0.612	KLHL40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256651.1	NM_152393		T	42730128	C	T	42730128	3	4	728	1	0	0	0	0	1	0	0	0	7998	652	23	1	1350	1	KBTBD5	3	42730128	Missense_Mutation	SNP	C	TCGA-KN-8422-01A-11D-2310-10	9143911	42730128	155292302	17	40914											
C3orf38	285237	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	3	88205252	88205252	+	Missense_Mutation	SNP	C	C	A			TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr3:88205252C>A	ENST00000318887.3	+	3	767	c.457C>A	c.(457-459)Ctt>Att	p.L153I	C3orf38_ENST00000486971.1_Intron	NM_173824.3	NP_776185.2	Q5JPI3	CC038_HUMAN	chromosome 3 open reading frame 38	153					apoptotic process (GO:0006915)					breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		CTTTGGACTTCTTAATTCTCA	0.378																																																0													69	67	68					3																	88205252		2203	4300	6503	SO:0001583	missense	285237			AL832398	CCDS2921.1, CCDS2921.2	3p11.1	2011-01-25			ENSG00000179021	ENSG00000179021			28384	protein-coding gene	gene with protein product						12477932	Standard	NM_173824		Approved	MGC26717	uc003dqw.3	Q5JPI3	OTTHUMG00000155752	ENST00000318887.3:c.457C>A	3.37:g.88205252C>A	ENSP00000322469:p.Leu153Ile		B2R8X6|Q8TC85	Missense_Mutation	SNP	ENST00000318887.3	37	CCDS2921.2	.	.	.	.	.	.	.	.	.	.	C	20.8	4.051753	0.75960	.	.	ENSG00000179021	ENST00000318887	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.77558	0.4148	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.79412	-0.1814	9	0.87932	D	0	-21.3008	12.4168	0.55498	0.0:0.9238:0.0:0.0762	.	153	Q5JPI3	CC038_HUMAN	I	153	.	ENSP00000322469:L153I	L	+	1	0	C3orf38	88287942	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	3.365000	0.52335	2.745000	0.94114	0.563000	0.77884	CTT		0.378	C3orf38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341513.1	NM_173824		A	88205252	C	A	88205252	3	1	728	1	0	0	0	0	1	0	0	0	2230	913	32	4	467	4	C3orf38	3	88205252	Missense_Mutation	SNP	C	TCGA-KN-8422-01A-11D-2310-10	45475124	88205252	109817178	18	40915											
SDAD1	55153	broad.mit.edu	37	4	76896979	76896979	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr4:76896979A>G	ENST00000356260.5	-	6	614	c.496T>C	c.(496-498)Tac>Cac	p.Y166H	SDAD1_ENST00000513089.1_5'Flank|SDAD1_ENST00000395711.4_Missense_Mutation_p.Y129H	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	166					actin cytoskeleton organization (GO:0030036)|protein transport (GO:0015031)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal large subunit export from nucleus (GO:0000055)	nucleolus (GO:0005730)				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AACATGGTGTACATGAAATTT	0.378																																																0													151	142	145					4																	76896979		2203	4300	6503	SO:0001583	missense	55153			AF132198	CCDS3573.2, CCDS75147.1	4q21.21	2010-11-24			ENSG00000198301	ENSG00000198301			25537	protein-coding gene	gene with protein product						11483580	Standard	NM_001288984		Approved	FLJ10498	uc003hje.4	Q9NVU7	OTTHUMG00000130111	ENST00000356260.5:c.496T>C	4.37:g.76896979A>G	ENSP00000348596:p.Tyr166His		Q32Q11|Q68D52|Q7Z5U4|Q9H831|Q9H9P6	Missense_Mutation	SNP	ENST00000356260.5	37	CCDS3573.2	.	.	.	.	.	.	.	.	.	.	A	22.8	4.333274	0.81801	.	.	ENSG00000198301	ENST00000356260;ENST00000395711	T;T	0.74002	-0.8;2.65	5.31	5.31	0.75309	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.83788	0.5330	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.987	D	0.84275	0.0491	10	0.48119	T	0.1	-14.0096	13.4856	0.61364	1.0:0.0:0.0:0.0	.	129;166	E7EW05;Q9NVU7	.;SDA1_HUMAN	H	166;129	ENSP00000348596:Y166H;ENSP00000379061:Y129H	ENSP00000348596:Y166H	Y	-	1	0	SDAD1	77116003	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.923000	0.92808	2.128000	0.65567	0.533000	0.62120	TAC		0.378	SDAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252418.3	NM_018115		G	76896979	A	G	76896979	3	3	728	1	0	0	0	0	1	0	0	0	13956	391	14	3	1635	3	SDAD1	4	76896979	Missense_Mutation	SNP	A	TCGA-KN-8422-01A-11D-2310-10		76896979	114257297	19	40916											
AGPAT9	84803	mdanderson.org	37	4	84502873	84502873	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr4:84502873T>C	ENST00000395226.2	+	4	585	c.367T>C	c.(367-369)Tca>Cca	p.S123P	AGPAT9_ENST00000264409.4_Missense_Mutation_p.S123P	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	123					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)				GGAGCTAGTGTCATGGAATCT	0.473																																																0													204	189	194					4																	84502873		2203	4300	6503	SO:0001583	missense	84803			AK055749	CCDS3606.1	4q21.23	2014-02-13	2008-01-29		ENSG00000138678	ENSG00000138678	2.3.1.15	"1-acylglycerol-3-phosphate O-acyltransferases"	28157	protein-coding gene	gene with protein product	"lysophosphatidic acid acyltransferase, theta"	610958	"1-acylglycerol-3-phosphate O-acyltransferase 9 (lysophosphatidic acid acyltransferase, theta)"			12975309	Standard	NM_001256421		Approved	MGC11324, LPAAT-theta, MAG1, HMFN0839	uc003how.4	Q53EU6	OTTHUMG00000130431	ENST00000395226.2:c.367T>C	4.37:g.84502873T>C	ENSP00000378651:p.Ser123Pro		Q68CJ4|Q6GPI6|Q96NA3	Missense_Mutation	SNP	ENST00000395226.2	37	CCDS3606.1	.	.	.	.	.	.	.	.	.	.	T	29.0	4.970641	0.92919	.	.	ENSG00000138678	ENST00000395226;ENST00000264409	T;T	0.50001	0.76;0.76	5.66	5.66	0.87406	.	0.063176	0.64402	D	0.000002	T	0.64821	0.2633	L	0.58969	1.84	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.62987	-0.6737	10	0.37606	T	0.19	-8.3228	15.9352	0.79698	0.0:0.0:0.0:1.0	.	123	Q53EU6	GPAT3_HUMAN	P	123	ENSP00000378651:S123P;ENSP00000264409:S123P	ENSP00000264409:S123P	S	+	1	0	AGPAT9	84721897	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.174000	0.68829	0.524000	0.50904	TCA		0.473	AGPAT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252821.3	NM_032717		C	84502873	T	C	84502873	3	2	728	1	0	0	0	0	1	0	0	0	392	1667	58	3	377	3	AGPAT9	4	84502873	Missense_Mutation	SNP	T	TCGA-KN-8422-01A-11D-2310-10	7605894	84502873	106651403	20	40917											
NDST4	64579	broad.mit.edu;mdanderson.org;bcgsc.ca	37	4	115767025	115767025	+	Missense_Mutation	SNP	A	A	T			TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr4:115767025A>T	ENST00000264363.2	-	10	2747	c.2069T>A	c.(2068-2070)aTc>aAc	p.I690N		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	690	Heparan sulfate N-sulfotransferase 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)		GAGGATGGTGATGATCTTGGC	0.428																																																0													134	125	128					4																	115767025		2203	4300	6503	SO:0001583	missense	64579			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.2069T>A	4.37:g.115767025A>T	ENSP00000264363:p.Ile690Asn		Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.573228	0.86542	.	.	ENSG00000138653	ENST00000264363	T	0.72167	-0.63	5.61	5.61	0.85477	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.88047	0.6332	M	0.93898	3.47	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	D	0.91197	0.4988	10	0.87932	D	0	.	15.8104	0.78557	1.0:0.0:0.0:0.0	.	690	Q9H3R1	NDST4_HUMAN	N	690	ENSP00000264363:I690N	ENSP00000264363:I690N	I	-	2	0	NDST4	115986474	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.851000	0.92205	2.125000	0.65367	0.533000	0.62120	ATC		0.428	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		T	115767025	A	T	115767025	3	4	728	1	0	0	0	0	1	0	0	0	10260	333	12	5	569	5	NDST4	4	115767025	Missense_Mutation	SNP	A	TCGA-KN-8422-01A-11D-2310-10	31264152	115767025	75387251	21	40918											
ABCE1	6059	broad.mit.edu	37	4	146041093	146041093	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr4:146041093delT	ENST00000296577.4	+	11	1447	c.932delT	c.(931-933)attfs	p.I311fs	OTUD4_ENST00000455611.2_Intron|ABCE1_ENST00000502803.1_3'UTR	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	311	ABC transporter 1. {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)					GGCATAAACATTTTTTTGGAT	0.358																																																0													37	37	37					4																	146041093		2203	4299	6502	SO:0001589	frameshift_variant	6059			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.932delT	4.37:g.146041093delT	ENSP00000296577:p.Ile311fs		O88793|Q13181|Q13864|Q6NR76|Q96AL0|Q96B10|Q99K66	Frame_Shift_Del	DEL	ENST00000296577.4	37	CCDS34071.1																																																																																				0.358	ABCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365104.1	NM_002940		-	146041093	T	-	146041093	7	5	728	1	0	1	0	1	0	0	0	0	64	1493	52	0	970	0	ABCE1	4	146041093	Frame_Shift_Del	DEL	T	TCGA-KN-8422-01A-11D-2310-10	30274068	146041093	45113183	22	40919											
ADAM29	11086	mdanderson.org	37	4	175899075	175899076	+	Missense_Mutation	DNP	CA	CA	TG	rs140568401|rs61744599	byFrequency	TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	CA	CA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr4:175899075_175899076CA>TG	ENST00000359240.3	+	5	3069_3070	c.2399_2400CA>TG	c.(2398-2400)aCA>aTG	p.T800M	ADAM29_ENST00000404450.4_Missense_Mutation_p.T800M|ADAM29_ENST00000445694.1_Missense_Mutation_p.T800M|ADAM29_ENST00000514159.1_Missense_Mutation_p.T800M|RP13-577H12.2_ENST00000507525.1_RNA	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	800	9 X 9 AA approximate repeats.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CCTCCTGTGACACCCTCCCAGA	0.564																																					Ovarian(140;1727 1835 21805 25838 41440)											0																																										SO:0001583	missense	11086			AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"ADAM metallopeptidase domain containing"	207	protein-coding gene	gene with protein product	"cancer/testis antigen 73"	604778	"a disintegrin and metalloproteinase domain 29"			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	Exception_encountered	4.37:g.175899075_175899076delinsTG	ENSP00000352177:p.Thr800Met		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Silent	DNP	ENST00000359240.3	37	CCDS3823.1																																																																																				0.564	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				TG	175899076	CA	TG	175899075	3	4	728	1	0	0	0	0	1	0	0	0	247	478	17	2	2401	2	ADAM29	4	175899075	Missense_Mutation	DNP	CA	TCGA-KN-8422-01A-11D-2310-10	29857982	175899075	15255201	23	40920											
PRDM9	56979	mdanderson.org	37	5	23527323	23527323	+	Missense_Mutation	SNP	C	C	G	rs200539936	byFrequency	TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr5:23527323C>G	ENST00000296682.3	+	11	2308	c.2126C>G	c.(2125-2127)aCt>aGt	p.T709S		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	709					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						GTCCTCCTCACTCACCAGAGG	0.587										HNSCC(3;0.000094)			c|||	492	0.0982428	0.2398	0.0893	5008	,	,		21450	0.0387		0.0298	False		,,,				2504	0.045															0													16	15	15					5																	23527323		1825	3640	5465	SO:0001583	missense	56979			AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"-", "Zinc fingers, C2H2-type"	13994	protein-coding gene	gene with protein product	"PR-domain containing protein 9"	609760	"minisatellite binding protein 3, 115kDa", "minisatellite binding protein 3 (115kD)"	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.2126C>G	5.37:g.23527323C>G	ENSP00000296682:p.Thr709Ser		B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	c	0.001	-4.409211	0.00000	.	.	ENSG00000164256	ENST00000296682	T	0.17370	2.28	2.57	-5.13	0.02884	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	3.203060	0.01089	N	0.005146	T	0.07999	0.0200	N	0.12920	0.275	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.32771	-0.9894	10	0.10111	T	0.7	.	1.0864	0.01654	0.2843:0.3342:0.1048:0.2768	.	709	Q9NQV7	PRDM9_HUMAN	S	709	ENSP00000296682:T709S	ENSP00000296682:T709S	T	+	2	0	PRDM9	23563080	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-20.000000	0.00000	-6.649000	0.00003	-6.748000	0.00000	ACT		0.587	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		G	23527323	C	G	23527323	3	3	728	1	0	0	0	0	1	0	0	0	12468	565	20	4	2164	4	PRDM9	5	23527323	Missense_Mutation	SNP	C	TCGA-KN-8422-01A-11D-2310-10		23527323	157387937	24	40921											
CDC23	8697	broad.mit.edu	37	5	137524673	137524673	+	Silent	SNP	C	C	T			TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr5:137524673C>T	ENST00000394886.2	-	16	1818	c.1788G>A	c.(1786-1788)acG>acA	p.T596T		NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	596					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of exit from mitosis (GO:0007096)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CCAACTATGGCGTGACAGAAG	0.493																																																0													122	115	117					5																	137524673		2203	4300	6503	SO:0001819	synonymous_variant	8697			AF053977	CCDS4200.2	5q31	2013-01-17	2013-01-17		ENSG00000094880	ENSG00000094880		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1724	protein-coding gene	gene with protein product	"anaphase promoting complex subunit 8"	603462	"CDC23 (cell division cycle 23, yeast, homolog)", "cell division cycle 23 homolog (S. cerevisiae)"			9790767	Standard	NM_004661		Approved	APC8, ANAPC8, CUT23	uc003lcl.3	Q9UJX2	OTTHUMG00000129198	ENST00000394886.2:c.1788G>A	5.37:g.137524673C>T			A8K6E5|B4E3A2|B7WP05|D3DQB7|O75433|Q53FN2|Q9BS73	Silent	SNP	ENST00000394886.2	37	CCDS4200.2																																																																																				0.493	CDC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251275.2			T	137524673	C	T	137524673	2	4	728	1	0	0	0	0	0	0	0	1	3063	755	27	1		1	CDC23	5	137524673	Silent	SNP	C	TCGA-KN-8422-01A-11D-2310-10	113997350	137524673	43390587	25	40922											
FAM184A	79632	ucsc.edu	37	6	119332586	119332586	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr6:119332586T>C	ENST00000338891.7	-	6	1984	c.1541A>G	c.(1540-1542)gAa>gGa	p.E514G	FAM184A_ENST00000521531.1_Missense_Mutation_p.E514G|FAM184A_ENST00000368475.4_Missense_Mutation_p.E394G|FAM184A_ENST00000522284.1_Missense_Mutation_p.E394G|FAM184A_ENST00000352896.5_Missense_Mutation_p.E394G|RP11-351A11.1_ENST00000518570.1_RNA	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	514						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						GTTATGTTGTTCTTCCAAATC	0.279																																																0													85	73	77					6																	119332586		1791	4055	5846	SO:0001583	missense	79632			BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 60"	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.1541A>G	6.37:g.119332586T>C	ENSP00000342604:p.Glu514Gly		B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	ENST00000338891.7	37	CCDS43499.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.33|15.33	2.801527|2.801527	0.50315|0.50315	.|.	.|.	ENSG00000111879|ENSG00000111879	ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531;ENST00000522284|ENST00000448815	T;T;T;T;T|.	0.00362|.	7.84;7.84;7.84;7.84;7.84|.	4.9|4.9	3.73|3.73	0.42828|0.42828	.|.	0.185306|.	0.47455|.	D|.	0.000234|.	T|T	0.42787|0.42787	0.1218|0.1218	L|L	0.44542|0.44542	1.39|1.39	0.36858|0.36858	D|D	0.888276|0.888276	P;P;P|.	0.49559|.	0.925;0.634;0.897|.	P;B;B|.	0.46758|.	0.526;0.234;0.371|.	T|T	0.35101|0.35101	-0.9802|-0.9802	10|5	0.41790|.	T|.	0.15|.	-5.3679|-5.3679	11.9853|11.9853	0.53145|0.53145	0.0:0.0:0.1449:0.855|0.0:0.0:0.1449:0.855	.|.	514;394;514|.	Q8NB25-2;F8W8D6;Q8NB25|.	.;.;F184A_HUMAN|.	G|D	514;394;394;514;394|100	ENSP00000342604:E514G;ENSP00000326608:E394G;ENSP00000357460:E394G;ENSP00000430442:E514G;ENSP00000429826:E394G|.	ENSP00000342604:E514G|.	E|N	-|-	2|1	0|0	FAM184A|FAM184A	119374285|119374285	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.394000|0.394000	0.30568|0.30568	4.388000|4.388000	0.59633|0.59633	0.886000|0.886000	0.36113|0.36113	0.397000|0.397000	0.26171|0.26171	GAA|AAC		0.279	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581		C	119332586	T	C	119332586	3	2	728	1	0	0	0	0	1	0	0	0	5513	1783	62	3	1933	3	FAM184A	6	119332586	Missense_Mutation	SNP	T	TCGA-KN-8422-01A-11D-2310-10		119332586	51782481	26	40923											
COL28A1	340267	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	7	7477054	7477054	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr7:7477054T>C	ENST00000399429.3	-	22	1902	c.1762A>G	c.(1762-1764)Aca>Gca	p.T588A		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	588					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)		GGAATTGATGTTCCAGGCATT	0.398																																																0													64	60	61					7																	7477054		1815	4076	5891	SO:0001583	missense	340267			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.1762A>G	7.37:g.7477054T>C	ENSP00000382356:p.Thr588Ala		A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Missense_Mutation	SNP	ENST00000399429.3	37	CCDS43553.1	.	.	.	.	.	.	.	.	.	.	T	1.279	-0.610799	0.03690	.	.	ENSG00000215018	ENST00000399429;ENST00000435823;ENST00000399419	D;D	0.94092	-3.35;-2.19	4.68	0.111	0.14619	.	1.291790	0.06060	N	0.658230	T	0.80308	0.4599	N	0.03029	-0.43	0.09310	N	0.99999	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.68930	-0.5279	10	0.13853	T	0.58	-0.0421	4.3873	0.11323	0.0:0.3617:0.3764:0.2619	.	588;588;588	Q2UY09-2;B5MDS6;Q2UY09	.;.;COSA1_HUMAN	A	588;5;588	ENSP00000382356:T588A;ENSP00000410557:T5A	ENSP00000382347:T588A	T	-	1	0	COL28A1	7443579	0.948000	0.32251	0.978000	0.43139	0.977000	0.68977	-0.431000	0.06965	-0.077000	0.12752	-0.408000	0.06270	ACA		0.398	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315899.1	NM_001037763		C	7477054	T	C	7477054	3	2	728	1	0	0	0	0	1	0	0	0	3688	1725	60	3	1671	3	COL28A1	7	7477054	Missense_Mutation	SNP	T	TCGA-KN-8422-01A-11D-2310-10		7477054	151661609	27	40924											
AMAC1L2	83650	mdanderson.org	37	8	11189601	11189601	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr8:11189601G>T	ENST00000382435.4	+	1	1205	c.986G>T	c.(985-987)aGc>aTc	p.S329I		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	329						integral component of membrane (GO:0016021)											CGGAACCTCAGCTGTGAGAGG	0.517																																																0													67	68	68					8																	11189601		2203	4300	6503	SO:0001583	missense	83650			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.986G>T	8.37:g.11189601G>T	ENSP00000371872:p.Ser329Ile		A2RRL6	Missense_Mutation	SNP	ENST00000382435.4	37	CCDS5980.1	.	.	.	.	.	.	.	.	.	.	g	0.299	-0.974907	0.02215	.	.	ENSG00000177710	ENST00000382435	T	0.28666	1.6	.	.	.	.	0.000000	0.52532	D	0.000061	T	0.22244	0.0536	L	0.54323	1.7	0.26188	N	0.979621	B	0.02656	0.0	B	0.06405	0.002	T	0.18241	-1.0343	8	0.22706	T	0.39	-1.3917	.	.	.	.	329	Q96KT7	S35G5_HUMAN	I	329	ENSP00000371872:S329I	ENSP00000371872:S329I	S	+	2	0	SLC35G5	11227011	0.173000	0.23056	0.298000	0.25002	0.299000	0.27559	0.335000	0.19806	0.064000	0.16427	0.064000	0.15345	AGC		0.517	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207313.2	NM_054028		T	11189601	G	T	11189601	3	4	728	1	0	0	0	0	1	0	0	0	560	971	34	4	988	4	AMAC1L2	8	11189601	Missense_Mutation	SNP	G	TCGA-KN-8422-01A-11D-2310-10		11189601	135174421	28	40925											
DOCK5	80005	broad.mit.edu	37	8	25203089	25203089	+	Silent	SNP	C	C	T			TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr8:25203089C>T	ENST00000276440.7	+	26	2760	c.2716C>T	c.(2716-2718)Ctg>Ttg	p.L906L		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	906					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)		CTCGCAGCTTCTGAGCAACAT	0.552																																					Pancreas(145;34 1887 3271 10937 30165)											0													162	140	148					8																	25203089		2203	4300	6503	SO:0001819	synonymous_variant	80005				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.2716C>T	8.37:g.25203089C>T			B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Silent	SNP	ENST00000276440.7	37	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	C	9.928	1.213958	0.22289	.	.	ENSG00000147459	ENST00000444569	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	T	0.70842	0.3270	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67845	-0.5565	4	.	.	.	.	13.9957	0.64397	0.0:0.9315:0.0:0.0685	.	.	.	.	F	677	.	.	S	+	2	0	DOCK5	25259006	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	4.643000	0.61390	2.941000	0.99782	0.655000	0.94253	TCT		0.552	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		T	25203089	C	T	25203089	2	4	728	1	0	0	0	0	0	0	0	1	4692	912	32	2		2	DOCK5	8	25203089	Silent	SNP	C	TCGA-KN-8422-01A-11D-2310-10	14013488	25203089	121160933	29	40926											
CNGB3	54714	bcgsc.ca	37	8	87660049	87660049	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr8:87660049T>C	ENST00000320005.5	-	8	1017	c.970A>G	c.(970-972)Aga>Gga	p.R324G		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	324					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						CTATTTGCTCTAAACATTGGA	0.294																																																0													99	97	98					8																	87660049		2203	4298	6501	SO:0001583	missense	54714			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.970A>G	8.37:g.87660049T>C	ENSP00000316605:p.Arg324Gly		C9JA51|Q9NRE9	Missense_Mutation	SNP	ENST00000320005.5	37	CCDS6244.1	.	.	.	.	.	.	.	.	.	.	T	17.92	3.506625	0.64410	.	.	ENSG00000170289	ENST00000320005	D	0.98792	-5.14	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.99369	0.9778	H	0.95712	3.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.98737	1.0715	10	0.87932	D	0	.	13.385	0.60791	0.0:0.0:0.1308:0.8692	.	324;324	Q9NQW8-2;Q9NQW8	.;CNGB3_HUMAN	G	324	ENSP00000316605:R324G	ENSP00000316605:R324G	R	-	1	2	CNGB3	87729165	1.000000	0.71417	1.000000	0.80357	0.649000	0.38597	3.316000	0.51960	2.270000	0.75569	0.482000	0.46254	AGA		0.294	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098		C	87660049	T	C	87660049	3	2	728	1	0	0	0	0	1	0	0	0	3603	1530	53	3	1503	3	CNGB3	8	87660049	Missense_Mutation	SNP	T	TCGA-KN-8422-01A-11D-2310-10	62456960	87660049	58703973	30	40927											
ORM1	5004	broad.mit.edu	37	9	117088629	117088629	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr9:117088629G>A	ENST00000259396.8	+	6	676	c.598G>A	c.(598-600)Gaa>Aaa	p.E200K		NM_000607.2	NP_000598.2	P02763	A1AG1_HUMAN	orosomucoid 1	200					acute-phase response (GO:0006953)|inflammatory response (GO:0006954)|regulation of immune system process (GO:0002682)|transport (GO:0006810)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(2)|large_intestine(4)|lung(2)	8		Myeloproliferative disorder(63;0.163)			Abiraterone(DB05812)|Acenocoumarol(DB01418)|Ajmaline(DB01426)|Alfentanil(DB00802)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aprindine(DB01429)|Bupropion(DB01156)|Canagliflozin(DB08907)|Celecoxib(DB00482)|Chlorpromazine(DB00477)|Desipramine(DB01151)|Disopyramide(DB00280)|Doxazosin(DB00590)|Doxepin(DB01142)|Erlotinib(DB00530)|Fluoxetine(DB00472)|Gefitinib(DB00317)|Imatinib(DB00619)|Imipramine(DB00458)|Ivacaftor(DB08820)|Maprotiline(DB00934)|Mirabegron(DB08893)|Nateglinide(DB00731)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxycodone(DB00497)|Penbutolol(DB01359)|Pethidine(DB00454)|Phenprocoumon(DB00946)|Pitavastatin(DB08860)|Prazosin(DB00457)|Propranolol(DB00571)|Quinidine(DB00908)|Saquinavir(DB01232)|Tacrolimus(DB00864)|Tamsulosin(DB00706)|Telaprevir(DB05521)|Thalidomide(DB01041)|Trazodone(DB00656)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Vismodegib(DB08828)|Warfarin(DB00682)	GGAGGAGGGGGAATCCTAGCA	0.567																																																0													10	14	13					9																	117088629		2135	4212	6347	SO:0001583	missense	5004				CCDS6803.1	9q32	2013-09-19			ENSG00000229314	ENSG00000229314		"Lipocalins"	8498	protein-coding gene	gene with protein product		138600					Standard	NM_000607		Approved		uc004bik.4	P02763	OTTHUMG00000021012	ENST00000259396.8:c.598G>A	9.37:g.117088629G>A	ENSP00000259396:p.Glu200Lys		B7ZKQ5|Q5T539|Q5U067|Q8TC16	Missense_Mutation	SNP	ENST00000259396.8	37	CCDS6803.1	.	.	.	.	.	.	.	.	.	.	-	8.126	0.781943	0.16189	.	.	ENSG00000229314	ENST00000259396	T	0.09538	2.97	2.31	1.4	0.22301	.	4.185410	0.00481	N	0.000130	T	0.10423	0.0255	L	0.37630	1.12	0.09310	N	0.999999	B	0.21821	0.061	B	0.11329	0.006	T	0.27938	-1.0059	10	0.45353	T	0.12	3.0E-4	5.045	0.14479	0.1769:0.0:0.8231:0.0	.	200	P02763	A1AG1_HUMAN	K	200	ENSP00000259396:E200K	ENSP00000259396:E200K	E	+	1	0	ORM1	116128450	0.007000	0.16637	0.000000	0.03702	0.263000	0.26337	1.175000	0.31944	0.539000	0.28788	0.164000	0.16699	GAA		0.567	ORM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055426.1			A	117088629	G	A	117088629	3	1	728	1	0	0	0	0	1	0	0	0	11269	1175	41	2	620	2	ORM1	9	117088629	Missense_Mutation	SNP	G	TCGA-KN-8422-01A-11D-2310-10		117088629	24124802	31	40928											
TFAM	7019	ucsc.edu	37	10	60148464	60148464	+	Missense_Mutation	SNP	T	T	G	rs77418790		TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr10:60148464T>G	ENST00000487519.1	+	4	852	c.326T>G	c.(325-327)gTa>gGa	p.V109G	TFAM_ENST00000373895.3_Missense_Mutation_p.V109G|TFAM_ENST00000373899.3_3'UTR	NM_001270782.1|NM_003201.2	NP_001257711.1|NP_003192.1	Q00059	TFAM_HUMAN	transcription factor A, mitochondrial	109					DNA-dependent DNA replication (GO:0006261)|gene expression (GO:0010467)|mitochondrial respiratory chain complex assembly (GO:0033108)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|mitochondrial light strand promoter sense binding (GO:0070363)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						GAGTGGCAGGTATATAAAGAA	0.348																																																0																																										SO:0001583	missense	7019			BC018628	CCDS7253.1, CCDS59217.1	10q21	2010-09-24			ENSG00000108064	ENSG00000108064			11741	protein-coding gene	gene with protein product		600438		TCF6, TCF6L2		7789991	Standard	NM_003201		Approved		uc001jkf.4	Q00059	OTTHUMG00000018270	ENST00000487519.1:c.326T>G	10.37:g.60148464T>G	ENSP00000420588:p.Val109Gly		A8MRB2|A9QXC6|B5BU05|Q5U0C6	Missense_Mutation	SNP	ENST00000487519.1	37	CCDS7253.1	.	.	.	.	.	.	.	.	.	.	T	9.686	1.150562	0.21371	.	.	ENSG00000108064	ENST00000487519;ENST00000373895	D;D	0.97941	-4.62;-4.62	5.93	-1.14	0.09741	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.851711	0.10843	N	0.627976	D	0.95815	0.8638	M	0.66939	2.045	0.26014	N	0.981958	P;P	0.48694	0.811;0.914	B;P	0.45167	0.433;0.472	D	0.90352	0.4367	10	0.33940	T	0.23	.	6.2978	0.21095	0.0:0.4583:0.1274:0.4143	.	109;109	A8MRB2;Q00059	.;TFAM_HUMAN	G	109	ENSP00000420588:V109G;ENSP00000363002:V109G	ENSP00000363002:V109G	V	+	2	0	TFAM	59818470	0.014000	0.17966	0.565000	0.28409	0.047000	0.14425	-0.297000	0.08276	-0.097000	0.12307	-0.242000	0.12053	GTA		0.348	TFAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048146.1	NM_003201		G	60148464	T	G	60148464	3	3	728	1	0	0	0	0	1	0	0	0	15791	1638	57	5	340	5	TFAM	10	60148464	Missense_Mutation	SNP	T	TCGA-KN-8422-01A-11D-2310-10		60148464	75386283	32	40929											
TYSND1	219743	mdanderson.org	37	10	71905695	71905695	+	Silent	SNP	A	A	G	rs35587847|rs10999158	byFrequency	TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr10:71905695A>G	ENST00000287078.6	-	1	647	c.648T>C	c.(646-648)ggT>ggC	p.G216G	TYSND1_ENST00000335494.5_Silent_p.G216G|TYSND1_ENST00000494143.1_5'Flank	NM_173555.2	NP_775826.2	Q2T9J0	TYSD1_HUMAN	trypsin domain containing 1	216					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						GCAATGGCGCACCCTTGGGCA	0.701													G|||	1634	0.326278	0.3775	0.2911	5008	,	,		12458	0.0615		0.4791	False		,,,				2504	0.3978															0								G	,	1632,2678		358,916,881	11	13	12		648,648	0.9	1	10	dbSNP_120	12	3557,4851		845,1867,1492	no	coding-synonymous,coding-synonymous	TYSND1	NM_001040273.1,NM_173555.2	,	1203,2783,2373	GG,GA,AA		42.3049,37.8654,40.8004	,	216/399,216/567	71905695	5189,7529	2155	4204	6359	SO:0001819	synonymous_variant	219743			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.648T>C	10.37:g.71905695A>G			Q5SQT4|Q5SQU1|Q8N6H2|Q96AR5	Silent	SNP	ENST00000287078.6	37	CCDS31213.1																																																																																				0.701	TYSND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048483.1	NM_173555		G	71905695	A	G	71905695	2	3	728	1	0	0	0	0	0	0	0	1	16822	146	6	3		3	TYSND1	10	71905695	Silent	SNP	A	TCGA-KN-8422-01A-11D-2310-10	11757231	71905695	63629052	33	40930											
TBC1D12	23232	ucsc.edu	37	10	96163181	96163181	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr10:96163181T>C	ENST00000225235.4	+	1	921	c.811T>C	c.(811-813)Ttc>Ctc	p.F271L		NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	271							Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				TGACATTCACTTCAACTCTCG	0.731																																																0													8	11	10					10																	96163181		1754	3895	5649	SO:0001583	missense	23232			AB011180	CCDS41553.1	10q23.33	2013-09-20			ENSG00000108239	ENSG00000108239			29082	protein-coding gene	gene with protein product						9628581	Standard	NM_015188		Approved	KIAA0608	uc001kjr.2	O60347	OTTHUMG00000018794	ENST00000225235.4:c.811T>C	10.37:g.96163181T>C	ENSP00000225235:p.Phe271Leu		Q5VYA6|Q8WX26|Q8WX59|Q9UG83	Missense_Mutation	SNP	ENST00000225235.4	37	CCDS41553.1	.	.	.	.	.	.	.	.	.	.	T	9.097	1.003103	0.19121	.	.	ENSG00000108239	ENST00000225235	T	0.03468	3.92	3.63	2.44	0.29823	.	2.556960	0.02013	N	0.047196	T	0.02304	0.0071	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40997	-0.9533	10	0.02654	T	1	1.4128	6.9045	0.24301	0.0:0.0:0.2373:0.7627	.	271	O60347	TBC12_HUMAN	L	271	ENSP00000225235:F271L	ENSP00000225235:F271L	F	+	1	0	TBC1D12	96153171	0.048000	0.20356	0.002000	0.10522	0.197000	0.23852	0.095000	0.15127	0.540000	0.28808	0.379000	0.24179	TTC		0.731	TBC1D12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049482.2			C	96163181	T	C	96163181	3	2	728	1	0	0	0	0	1	0	0	0	15606	1609	56	3	813	3	TBC1D12	10	96163181	Missense_Mutation	SNP	T	TCGA-KN-8422-01A-11D-2310-10	24257486	96163181	39371566	34	40931											
MUC6	4588	mdanderson.org	37	11	1017530	1017530	+	Silent	SNP	G	G	A			TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr11:1017530G>A	ENST00000421673.2	-	31	5321	c.5271C>T	c.(5269-5271)caC>caT	p.H1757H		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1757	Approximate repeats.|Thr-rich.				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)		CTTCAGGATGGTGTGTGGAGG	0.562																																																0													794	752	766					11																	1017530		2201	4294	6495	SO:0001819	synonymous_variant	4588			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.5271C>T	11.37:g.1017530G>A			O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	CCDS44513.1																																																																																				0.562	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		A	1017530	G	A	1017530	2	1	728	1	0	0	0	0	0	0	0	1	9982	1252	44	2		2	MUC6	11	1017530	Silent	SNP	G	TCGA-KN-8422-01A-11D-2310-10		1017530	133988986	35	40932											
MUC6	4588	mdanderson.org	37	11	1018394	1018394	+	Silent	SNP	C	C	T	rs111444881		TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr11:1018394C>T	ENST00000421673.2	-	31	4457	c.4407G>A	c.(4405-4407)caG>caA	p.Q1469Q		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1469	Pro-rich.|Thr-rich.				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)		ATGTGGCCATCTGTGCGTGGG	0.567																																																0													271	265	267					11																	1018394		2190	4284	6474	SO:0001819	synonymous_variant	4588			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.4407G>A	11.37:g.1018394C>T			O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	CCDS44513.1																																																																																				0.567	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		T	1018394	C	T	1018394	2	4	728	1	0	0	0	0	0	0	0	1	9982	912	32	2		2	MUC6	11	1018394	Silent	SNP	C	TCGA-KN-8422-01A-11D-2310-10	864	1018394	133988122	36	40933											
EML3	256364	mdanderson.org	37	11	62378660	62378660	+	Silent	SNP	G	G	A	rs12808829	byFrequency	TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr11:62378660G>A	ENST00000394773.2	-	3	658	c.351C>T	c.(349-351)agC>agT	p.S117S	EML3_ENST00000278845.4_Silent_p.S118S|ROM1_ENST00000534093.1_5'Flank|EML3_ENST00000494176.2_Silent_p.S89S|ROM1_ENST00000278833.3_5'Flank|EML3_ENST00000529309.1_Silent_p.S117S|EML3_ENST00000531557.1_5'Flank	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	117						cytoplasm (GO:0005737)|microtubule (GO:0005874)				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						ATTGGGTCCCGCTAGGCTCTT	0.687													A|||	972	0.194089	0.1936	0.2032	5008	,	,		15245	0.0506		0.3161	False		,,,				2504	0.2106															0								A		926,3418		102,722,1348	11	14	13		351	-5.5	0.1	11	dbSNP_121	13	2990,5538		549,1892,1823	no	coding-synonymous	EML3	NM_153265.2		651,2614,3171	AA,AG,GG		35.061,21.3168,30.4226		117/897	62378660	3916,8956	2172	4264	6436	SO:0001819	synonymous_variant	256364			AK093146	CCDS8023.2	11q12.3	2013-01-10			ENSG00000149499	ENSG00000149499		"WD repeat domain containing"	26666	protein-coding gene	gene with protein product						15225882, 14744259	Standard	NM_153265		Approved	FLJ35827, ELP95	uc001ntu.1	Q32P44	OTTHUMG00000149817	ENST00000394773.2:c.351C>T	11.37:g.62378660G>A			Q6ZQW7|Q8NA55	Silent	SNP	ENST00000394773.2	37	CCDS8023.2	472	0.21611721611721613	112	0.22764227642276422	91	0.2513812154696133	32	0.055944055944055944	237	0.31266490765171506	A	4.052	0.007268	0.07866	0.213168	0.35061	ENSG00000149499	ENST00000394776	.	.	.	5.05	-5.49	0.02584	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999872094	.	.	.	.	.	.	T	0.37865	-0.9687	3	.	.	.	-0.0522	7.3335	0.26596	0.2996:0.2839:0.4165:0.0	rs12808829	.	.	.	W	112	.	.	R	-	1	2	EML3	62135236	0.008000	0.16893	0.095000	0.20976	0.334000	0.28698	-0.688000	0.05150	-1.005000	0.03417	-0.521000	0.04368	CGG		0.687	EML3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313432.1	NM_153265		A	62378660	G	A	62378660	2	1	728	1	0	0	0	0	0	0	0	1	5100	1078	38	1		1	EML3	11	62378660	Silent	SNP	G	TCGA-KN-8422-01A-11D-2310-10	61360266	62378660	72627856	37	40934											
EFEMP2	30008	ucsc.edu	37	11	65635766	65635766	+	Splice_Site	SNP	T	T	C			TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr11:65635766T>C	ENST00000307998.6	-	9	1204	c.974A>G	c.(973-975)aAc>aGc	p.N325S	EFEMP2_ENST00000528176.1_Splice_Site_p.N325S|EFEMP2_ENST00000532648.1_5'Flank	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	325	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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)		ATTGACTCACTTCTCAGAGAC	0.602																																																0													37	36	36					11																	65635766		2201	4296	6497	SO:0001630	splice_region_variant	30008			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.974+1A>G	11.37:g.65635766T>C			A8K7R4|B3KM31|B3KQT1|O75967	Missense_Mutation	SNP	ENST00000307998.6	37	CCDS8116.1	.	.	.	.	.	.	.	.	.	.	T	9.495	1.101722	0.20632	.	.	ENSG00000172638	ENST00000531645;ENST00000528176;ENST00000307998	D;D;D	0.91740	-2.9;-2.9;-2.9	4.82	4.82	0.62117	Epidermal growth factor-like (1);EGF-like calcium-binding (1);	0.000000	0.53938	D	0.000051	D	0.89842	0.6832	L	0.48877	1.53	0.58432	D	0.999998	P;P	0.40731	0.63;0.728	B;B	0.43728	0.191;0.429	D	0.88380	0.3001	9	.	.	.	.	12.3479	0.55132	0.0:0.0:0.0:1.0	.	325;325	E9PRU1;O95967	.;FBLN4_HUMAN	S	41;325;325	ENSP00000436521:N41S;ENSP00000434151:N325S;ENSP00000309953:N325S	.	N	-	2	0	EFEMP2	65392342	1.000000	0.71417	1.000000	0.80357	0.038000	0.13279	5.764000	0.68826	1.814000	0.52955	0.374000	0.22700	AAC		0.602	EFEMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391047.4	NM_016938	Missense_Mutation	C	65635766	T	C	65635766	5	2	728	1	0	0	0	0	0	0	1	0	4944	1623	56	3	369	3	EFEMP2	11	65635766	Splice_Site	SNP	T	TCGA-KN-8422-01A-11D-2310-10	3257106	65635766	69370750	38	40935											
PPFIA1	8500	ucsc.edu	37	11	70178163	70178163	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr11:70178163A>G	ENST00000253925.7	+	9	1390	c.1175A>G	c.(1174-1176)gAg>gGg	p.E392G	PPFIA1_ENST00000389547.3_Missense_Mutation_p.E392G|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	392					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CCGGAGGTGGAGGCGGAGCTG	0.572																																																0													107	103	105					11																	70178163		2200	4294	6494	SO:0001583	missense	8500			U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"Sterile alpha motif (SAM) domain containing"	9245	protein-coding gene	gene with protein product	"Liprin-alpha1"	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.1175A>G	11.37:g.70178163A>G	ENSP00000253925:p.Glu392Gly		A6NLE3|Q13135|Q14567|Q8N4I2	Missense_Mutation	SNP	ENST00000253925.7	37	CCDS31627.1	.	.	.	.	.	.	.	.	.	.	A	31	5.069588	0.93950	.	.	ENSG00000131626	ENST00000253925;ENST00000389547	T;T	0.37915	1.17;1.17	5.13	5.13	0.70059	.	0.000000	0.85682	U	0.000000	T	0.66781	0.2824	M	0.89601	3.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.992;0.995	T	0.75365	-0.3343	10	0.87932	D	0	.	14.9748	0.71264	1.0:0.0:0.0:0.0	.	392;392	Q13136;Q13136-2	LIPA1_HUMAN;.	G	392	ENSP00000253925:E392G;ENSP00000374198:E392G	ENSP00000253925:E392G	E	+	2	0	PPFIA1	69855811	1.000000	0.71417	0.998000	0.56505	0.964000	0.63967	9.116000	0.94341	1.931000	0.55961	0.533000	0.62120	GAG		0.572	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	NM_003626		G	70178163	A	G	70178163	3	3	728	1	0	0	0	0	1	0	0	0	12311	304	11	3	1205	3	PPFIA1	11	70178163	Missense_Mutation	SNP	A	TCGA-KN-8422-01A-11D-2310-10	4542397	70178163	64828353	39	40936											
FOLH1B	219595	broad.mit.edu;mdanderson.org	37	11	89421805	89421805	+	RNA	SNP	G	G	C			TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr11:89421805G>C	ENST00000532352.1	+	0	1475							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						CAACGACTTGGAATTGCTTCA	0.299																																																0													61	69	66					11																	89421805		2196	4294	6490			219595			AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"prostate specific membrane antigen like protein", "Cell growth-inhibiting gene 26 protein", "glutamate carboxypeptidase III"	609020	"folate hydrolase 2"	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89421805G>C				Missense_Mutation	SNP	ENST00000532352.1	37																																																																																					0.299	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		C	89421805	G	C	89421805	1	2	728	0	1	0	0	0	0	0	0	0	5982	1174	41	4		4	FOLH1B	11	89421805	RNA	SNP	G	TCGA-KN-8422-01A-11D-2310-10	19243642	89421805	45584711	40	40937											
PGR	5241	broad.mit.edu	37	11	100999089	100999089	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr11:100999089delT	ENST00000325455.5	-	1	2166	c.713delA	c.(712-714)aagfs	p.K238fs	PGR_ENST00000534013.1_Intron|PGR_ENST00000263463.5_Frame_Shift_Del_p.K238fs	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	238	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)	AGGTTTGCCCTTCAGAAGCGG	0.721																																					Pancreas(124;2271 2354 21954 22882)											0													9	11	11					11																	100999089		2129	4263	6392	SO:0001589	frameshift_variant	5241			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.713delA	11.37:g.100999089delT	ENSP00000325120:p.Lys238fs		A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Frame_Shift_Del	DEL	ENST00000325455.5	37	CCDS8310.1																																																																																				0.721	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1			-	100999089	T	-	100999089	7	5	728	1	0	1	0	1	0	0	0	0	11807	1609	56	0	2120	0	PGR	11	100999089	Frame_Shift_Del	DEL	T	TCGA-KN-8422-01A-11D-2310-10	11577284	100999089	34007427	41	40938											
CEP164	22897	hgsc.bcm.edu;mdanderson.org	37	11	117214946	117214946	+	Silent	SNP	G	G	T			TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr11:117214946G>T	ENST00000278935.3	+	4	294	c.147G>T	c.(145-147)ctG>ctT	p.L49L		NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	49	Interaction with ATRIP.				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)		TGATGTGGCTGGCGCGAGAGG	0.557																																																0													41	38	39					11																	117214946		2201	4296	6497	SO:0001819	synonymous_variant	22897			AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.147G>T	11.37:g.117214946G>T			Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Silent	SNP	ENST00000278935.3	37	CCDS31683.1																																																																																				0.557	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	NM_014956		T	117214946	G	T	117214946	2	4	728	1	0	0	0	0	0	0	0	1	3251	1335	47	4		4	CEP164	11	117214946	Silent	SNP	G	TCGA-KN-8422-01A-11D-2310-10	16215857	117214946	17791570	42	40939											
TAS2R31	259290	mdanderson.org	37	12	11183066	11183066	+	Missense_Mutation	SNP	A	A	T	rs138895028		TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr12:11183066A>T	ENST00000390675.2	-	1	940	c.869T>A	c.(868-870)tTt>tAt	p.F290Y	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	290					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						AACTGAAAGAAAAGTCTGCTT	0.428																																																0													205	208	207					12																	11183066		1976	4186	6162	SO:0001583	missense	259290			AX097748, AF494228	CCDS53747.1	12p13.2	2012-08-22				ENSG00000256436		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	19113	protein-coding gene	gene with protein product		612669	"taste receptor, type 2, member 44"	TAS2R44			Standard	NM_176885		Approved	T2R31, T2R53	uc001qzo.1	P59538		ENST00000390675.2:c.869T>A	12.37:g.11183066A>T	ENSP00000375093:p.Phe290Tyr		P59547|Q17R84|Q645X5	Missense_Mutation	SNP	ENST00000390675.2	37	CCDS53747.1	.	.	.	.	.	.	.	.	.	.	.	11.50	1.657910	0.29425	.	.	ENSG00000256436	ENST00000390675	T	0.42131	0.98	2.41	2.41	0.29592	.	.	.	.	.	T	0.43787	0.1263	M	0.81614	2.55	0.09310	N	1	P	0.35944	0.529	B	0.37451	0.25	T	0.36866	-0.9730	9	0.42905	T	0.14	.	6.6503	0.22959	1.0:0.0:0.0:0.0	.	290	P59538	T2R31_HUMAN	Y	290	ENSP00000375093:F290Y	ENSP00000375093:F290Y	F	-	2	0	TAS2R31	11074333	0.000000	0.05858	0.003000	0.11579	0.127000	0.20565	0.972000	0.29409	1.128000	0.42052	0.155000	0.16302	TTT		0.428	TAS2R31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400233.1	NM_176885		T	11183066	A	T	11183066	3	4	728	1	0	0	0	0	1	0	0	0	15579	14	1	5	64	5	TAS2R31	12	11183066	Missense_Mutation	SNP	A	TCGA-KN-8422-01A-11D-2310-10		11183066	122668829	43	40940											
TAS2R31	259290	mdanderson.org	37	12	11183496	11183496	+	Missense_Mutation	SNP	T	T	C	rs199736450		TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr12:11183496T>C	ENST00000390675.2	-	1	510	c.439A>G	c.(439-441)Ata>Gta	p.I147V	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	147					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						TTCATGTTTATCACAAAAAGT	0.383																																																0													78	80	79					12																	11183496		2077	4242	6319	SO:0001583	missense	259290			AX097748, AF494228	CCDS53747.1	12p13.2	2012-08-22				ENSG00000256436		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	19113	protein-coding gene	gene with protein product		612669	"taste receptor, type 2, member 44"	TAS2R44			Standard	NM_176885		Approved	T2R31, T2R53	uc001qzo.1	P59538		ENST00000390675.2:c.439A>G	12.37:g.11183496T>C	ENSP00000375093:p.Ile147Val		P59547|Q17R84|Q645X5	Missense_Mutation	SNP	ENST00000390675.2	37	CCDS53747.1	.	.	.	.	.	.	.	.	.	.	.	0.060	-1.225300	0.01530	.	.	ENSG00000256436	ENST00000390675	T	0.00792	5.69	2.45	-4.89	0.03103	.	.	.	.	.	T	0.00468	0.0015	N	0.11818	0.18	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.43114	-0.9411	9	0.17832	T	0.49	.	4.2721	0.10792	0.1787:0.2132:0.0:0.6081	.	147	P59538	T2R31_HUMAN	V	147	ENSP00000375093:I147V	ENSP00000375093:I147V	I	-	1	0	TAS2R31	11074763	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.931000	0.01556	-1.115000	0.02973	-1.140000	0.01884	ATA		0.383	TAS2R31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400233.1	NM_176885		C	11183496	T	C	11183496	3	2	728	1	0	0	0	0	1	0	0	0	15579	1435	50	3	494	3	TAS2R31	12	11183496	Missense_Mutation	SNP	T	TCGA-KN-8422-01A-11D-2310-10	430	11183496	122668399	44	40941											
MLL2	8085	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	49432249	49432249	+	Missense_Mutation	SNP	C	C	A			TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr12:49432249C>A	ENST00000301067.7	-	34	8889	c.8890G>T	c.(8890-8892)Gtc>Ttc	p.V2964F	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2964	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)										GGCCGGTTGACCAGCTCCAAA	0.607																																																0													69	75	73					12																	49432249		1922	4121	6043	SO:0001583	missense	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.8890G>T	12.37:g.49432249C>A	ENSP00000301067:p.Val2964Phe		O14687	Missense_Mutation	SNP	ENST00000301067.7	37	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	9.138	1.013049	0.19277	.	.	ENSG00000167548	ENST00000301067	T	0.79454	-1.27	5.73	5.73	0.89815	.	0.000000	0.34906	N	0.003589	T	0.60064	0.2240	N	0.08118	0	0.25068	N	0.991018	P	0.44195	0.828	B	0.38880	0.284	T	0.62770	-0.6784	10	0.87932	D	0	.	13.4164	0.60972	0.0:0.8427:0.1573:0.0	.	2964	O14686	MLL2_HUMAN	F	2964	ENSP00000301067:V2964F	ENSP00000301067:V2964F	V	-	1	0	MLL2	47718516	0.444000	0.25649	1.000000	0.80357	0.865000	0.49528	1.100000	0.31025	2.882000	0.98803	0.655000	0.94253	GTC		0.607	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			A	49432249	C	A	49432249	3	1	728	1	0	0	0	0	1	0	0	0	9623	507	18	4	7807	4	MLL2	12	49432249	Missense_Mutation	SNP	C	TCGA-KN-8422-01A-11D-2310-10	38248753	49432249	84419646	45	40942											
SMARCC2	6601	hgsc.bcm.edu	37	12	56565715	56565715	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr12:56565715C>T	ENST00000267064.4	-	20	1926	c.1840G>A	c.(1840-1842)Gaa>Aaa	p.E614K	SMARCC2_ENST00000394023.3_Missense_Mutation_p.E645K|SMARCC2_ENST00000550164.1_Missense_Mutation_p.E645K|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Missense_Mutation_p.E645K	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	614	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				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)	p.E614K(1)		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)			TTGTACATTTCCAGTGCCTGG	0.507																																																1	Substitution - Missense(1)	skin(1)											77	65	69					12																	56565715		2203	4300	6503	SO:0001583	missense	6601			U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.1840G>A	12.37:g.56565715C>T	ENSP00000267064:p.Glu614Lys		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Missense_Mutation	SNP	ENST00000267064.4	37	CCDS8907.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.798517	0.90538	.	.	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000347471;ENST00000267064	T;T;T;T	0.39787	1.06;1.06;1.06;1.06	3.89	3.0	0.34707	Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);SANT, eukarya (1);	0.122444	0.52532	D	0.000069	T	0.38134	0.1029	L	0.61387	1.9	0.58432	D	0.999994	B;B;B;B;B	0.33345	0.409;0.356;0.409;0.409;0.356	B;B;B;B;B	0.30572	0.117;0.071;0.117;0.117;0.115	T	0.40308	-0.9570	10	0.56958	D	0.05	-11.0784	11.0341	0.47791	0.0:0.9047:0.0:0.0953	.	534;645;649;614;645	B4DF22;F8VTJ5;Q59G16;Q8TAQ2;Q8TAQ2-2	.;.;.;SMRC2_HUMAN;.	K	645;645;645;614	ENSP00000377591:E645K;ENSP00000449396:E645K;ENSP00000302919:E645K;ENSP00000267064:E614K	ENSP00000267064:E614K	E	-	1	0	SMARCC2	54851982	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.609000	0.82925	1.211000	0.43351	0.655000	0.94253	GAA		0.507	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			T	56565715	C	T	56565715	3	4	728	1	0	0	0	0	1	0	0	0	14782	864	30	2	1840	2	SMARCC2	12	56565715	Missense_Mutation	SNP	C	TCGA-KN-8422-01A-11D-2310-10	7133466	56565715	77286180	46	40943											
MPHOSPH8	54737	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	13	20220943	20220943	+	Missense_Mutation	SNP	G	G	C			TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr13:20220943G>C	ENST00000361479.5	+	3	798	c.730G>C	c.(730-732)Gaa>Caa	p.E244Q	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.E244Q	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	244	Lys-rich.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of DNA methylation (GO:0044030)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nuclear nucleosome (GO:0000788)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	methylated histone binding (GO:0035064)			breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		gaaaacaagagaagatcccaa	0.313																																																0													24	28	27					13																	20220943		2135	4255	6390	SO:0001583	missense	54737			AK056785, AJ293409	CCDS9287.1	13q12.11	2013-01-10			ENSG00000196199	ENSG00000196199		"Ankyrin repeat domain containing"	29810	protein-coding gene	gene with protein product		611626				8885239	Standard	NM_017520		Approved	mpp8, HSMPP8	uc001umh.3	Q99549	OTTHUMG00000016498	ENST00000361479.5:c.730G>C	13.37:g.20220943G>C	ENSP00000355388:p.Glu244Gln		B7Z6F9|Q5JPE5|Q5JTQ0|Q86TK3|Q96MK4|Q9BTP1	Missense_Mutation	SNP	ENST00000361479.5	37	CCDS9287.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.186009	0.78789	.	.	ENSG00000196199	ENST00000414242;ENST00000361479;ENST00000538024	T;T	0.38887	1.11;1.11	6.02	6.02	0.97574	.	0.778438	0.12648	N	0.450698	T	0.62380	0.2423	L	0.56769	1.78	0.58432	D	0.999996	D;D;D	0.67145	0.987;0.996;0.993	P;P;P	0.61658	0.638;0.892;0.782	T	0.58103	-0.7695	10	0.56958	D	0.05	.	19.5254	0.95203	0.0:0.0:1.0:0.0	.	244;244;244	Q99549;Q99549-2;B3KS10	MPP8_HUMAN;.;.	Q	244	ENSP00000414663:E244Q;ENSP00000355388:E244Q	ENSP00000355388:E244Q	E	+	1	0	MPHOSPH8	19118943	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.921000	0.70028	2.857000	0.98124	0.650000	0.86243	GAA		0.313	MPHOSPH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044028.2	NM_017520		C	20220943	G	C	20220943	3	2	728	1	0	0	0	0	1	0	0	0	9729	943	33	4	740	4	MPHOSPH8	13	20220943	Missense_Mutation	SNP	G	TCGA-KN-8422-01A-11D-2310-10		20220943	94948935	47	40944											
SRP14	6727	broad.mit.edu	37	15	40328594	40328595	+	In_Frame_Ins	INS	-	-	GGG			TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr15:40328594_40328595insGGG	ENST00000267884.6	-	5	421_422	c.350_351insCCC	c.(349-351)cct>ccCCCt	p.117_117P>PP	SRP14_ENST00000558527.1_5'UTR|SRP14_ENST00000560773.1_In_Frame_Ins_p.37_37P>PP|SRP14_ENST00000558720.1_In_Frame_Ins_p.37_37P>PP|SRP14-AS1_ENST00000504245.1_lincRNA	NM_003134.4	NP_003125.3	P37108	SRP14_HUMAN	signal recognition particle 14kDa (homologous Alu RNA binding protein)	117	Ala/Thr-rich.				cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|protein targeting to ER (GO:0045047)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intercellular bridge (GO:0045171)|nucleolus (GO:0005730)|nucleus (GO:0005634)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-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;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)		ctgctgcggcaggtgctgctgc	0.48																																																0																																										SO:0001652	inframe_insertion	6727				CCDS42017.1	15q22	2008-08-15	2002-08-29		ENSG00000140319	ENSG00000140319			11299	protein-coding gene	gene with protein product		600708	"signal recognition particle 14kD (homologous Alu RNA-binding protein)"			8196634	Standard	NM_003134		Approved	ALURBP, MGC14326	uc001zkq.2	P37108		ENST00000267884.6:c.350_351insCCC	15.37:g.40328594_40328595insGGG	ENSP00000267884:p.Pro117dup		B5BUF5|Q6B0K5|Q96Q14	In_Frame_Ins	INS	ENST00000267884.6	37	CCDS42017.1																																																																																				0.48	SRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418262.2	NM_003134		GGG	40328595	-	GGG	40328594	7	5	728	1	0	1	1	0	0	0	0	0	15158	175	7	0	63	0	SRP14	15	40328594	In_Frame_Ins	INS	-	TCGA-KN-8422-01A-11D-2310-10		40328594	62202798	48	40945											
GOLGA6A	342096	mdanderson.org	37	15	74363307	74363307	+	Missense_Mutation	SNP	C	C	T	rs201661955		TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr15:74363307C>T	ENST00000290438.3	-	18	2066	c.2026G>A	c.(2026-2028)Gac>Aac	p.D676N	RN7SL429P_ENST00000479090.2_RNA	NM_001038640.2	NP_001033729.2	Q9NYA3	GOG6A_HUMAN	golgin A6 family, member A	676						Golgi apparatus (GO:0005794)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1)	16						GTGGGGTTGTCATGGGGAGAA	0.587																																																0													29	30	29					15																	74363307		1471	3135	4606	SO:0001583	missense	342096			AF263742	CCDS32290.1	15q24.1	2013-05-10	2010-02-12	2009-09-28	ENSG00000159289	ENSG00000159289			13567	protein-coding gene	gene with protein product		610288	"golgi autoantigen, golgin subfamily a, member 6", "golgi autoantigen, golgin subfamily a, 6", "golgi autoantigen, golgin subfamily a, 6A"	GOLGA6		11161787	Standard	NM_001038640		Approved	GLP	uc002axa.1	Q9NYA3	OTTHUMG00000173035	ENST00000290438.3:c.2026G>A	15.37:g.74363307C>T	ENSP00000290438:p.Asp676Asn		A8K959|Q9NYA7	Missense_Mutation	SNP	ENST00000290438.3	37	CCDS32290.1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.983824	0.35036	.	.	ENSG00000159289	ENST00000290438	T	0.23754	1.89	0.856	0.856	0.19019	.	.	.	.	.	T	0.42449	0.1203	M	0.66506	2.035	0.22081	N	0.999372	D	0.69078	0.997	D	0.73380	0.98	T	0.14254	-1.0479	9	0.38643	T	0.18	.	7.6108	0.28129	0.0:0.9999:0.0:1.0E-4	.	676	Q9NYA3	GOG6A_HUMAN	N	676	ENSP00000290438:D676N	ENSP00000290438:D676N	D	-	1	0	GOLGA6A	72150360	0.983000	0.35010	0.319000	0.25293	0.013000	0.08279	2.223000	0.42936	0.770000	0.33336	0.162000	0.16502	GAC		0.587	GOLGA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421835.1	XM_292357		T	74363307	C	T	74363307	3	4	728	1	0	0	0	0	1	0	0	0	6559	826	29	2	59	2	GOLGA6A	15	74363307	Missense_Mutation	SNP	C	TCGA-KN-8422-01A-11D-2310-10	34034713	74363307	28168085	49	40946											
RGMA	56963	broad.mit.edu	37	15	93588500	93588500	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr15:93588500C>T	ENST00000329082.7	-	4	1352	c.1081G>A	c.(1081-1083)Gtg>Atg	p.V361M	RGMA_ENST00000557420.1_3'UTR|RGMA_ENST00000557301.1_Missense_Mutation_p.V369M|RGMA_ENST00000425933.2_Missense_Mutation_p.V345M|RGMA_ENST00000556658.1_Missense_Mutation_p.V252M|RGMA_ENST00000542321.2_Missense_Mutation_p.V345M|RGMA_ENST00000543599.1_Missense_Mutation_p.V345M|RGMA_ENST00000538818.1_Missense_Mutation_p.V252M	NM_020211.2	NP_064596	Q96B86	RGMA_HUMAN	repulsive guidance molecule family member a	361					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|neural tube closure (GO:0001843)|regulation of BMP signaling pathway (GO:0030510)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			CACTTGGCCACGGCTGTCTCG	0.667																																																0																																										SO:0001583	missense	56963			AL390083	CCDS45357.1, CCDS53973.1, CCDS53974.1	15q26.1	2013-11-06	2013-11-06			ENSG00000182175			30308	protein-coding gene	gene with protein product		607362	"RGM domain family, member A"			15975920	Standard	NM_020211		Approved	RGM, RGMa	uc010urc.2	Q96B86		ENST00000329082.7:c.1081G>A	15.37:g.93588500C>T	ENSP00000330005:p.Val361Met		B2RTW1|B7Z5S8|F5GXQ7|F5GZU6|G3V518|Q0JV97|Q8NC80|Q9H0E6|Q9NPM3	Missense_Mutation	SNP	ENST00000329082.7	37	CCDS45357.1	.	.	.	.	.	.	.	.	.	.	C	10.54	1.378059	0.24944	.	.	ENSG00000182175	ENST00000543599;ENST00000425933;ENST00000329082;ENST00000542321;ENST00000538818;ENST00000557301	D;D;D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85;-1.85;-1.85	4.87	2.7	0.31948	Repulsive guidance molecule, C-terminal (1);	0.698695	0.14162	N	0.337299	T	0.67850	0.2937	N	0.08118	0	0.09310	N	1	B;B	0.18741	0.03;0.021	B;B	0.20184	0.016;0.028	T	0.55970	-0.8056	10	0.32370	T	0.25	-14.2297	6.0953	0.20017	0.0:0.6333:0.0:0.3667	.	369;361	G3V518;Q96B86	.;RGMA_HUMAN	M	345;345;361;345;252;369	ENSP00000442498:V345M;ENSP00000404442:V345M;ENSP00000330005:V361M;ENSP00000440025:V345M;ENSP00000442546:V252M;ENSP00000452126:V369M	ENSP00000330005:V361M	V	-	1	0	RGMA	91389504	0.013000	0.17824	0.916000	0.36221	0.692000	0.40212	2.102000	0.41796	1.033000	0.39918	0.491000	0.48974	GTG		0.667	RGMA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000415091.1	NM_020211		T	93588500	C	T	93588500	3	4	728	1	0	0	0	0	1	0	0	0	13286	536	19	1	275	1	RGMA	15	93588500	Missense_Mutation	SNP	C	TCGA-KN-8422-01A-11D-2310-10	19225193	93588500	8942892	50	40947											
SRRM2	23524	broad.mit.edu	37	16	2818052	2818053	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr16:2818052_2818053insC	ENST00000301740.8	+	11	8072_8073	c.7523_7524insC	c.(7522-7527)gagccafs	p.EP2508fs	AC092117.2_ENST00000581119.1_RNA|SRRM2_ENST00000574593.1_3'UTR	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2508	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						GATGTGGGGGAGCCACCTGCCT	0.639																																																0																																										SO:0001589	frameshift_variant	23524			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	Exception_encountered	16.37:g.2818052_2818053insC	ENSP00000301740:p.Glu2508fs		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Frame_Shift_Ins	INS	ENST00000301740.8	37	CCDS32373.1																																																																																				0.639	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			C	2818053	-	C	2818052	7	5	728	1	0	1	1	0	0	0	0	0	15174	304	11	0	7561	0	SRRM2	16	2818052	Frame_Shift_Ins	INS	-	TCGA-KN-8422-01A-11D-2310-10		2818052	87536701	51	40948											
MEFV	4210	mdanderson.org	37	16	3304654	3304654	+	Silent	SNP	T	T	C	rs224224	byFrequency	TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr16:3304654T>C	ENST00000219596.1	-	2	453	c.414A>G	c.(412-414)ggA>ggG	p.G138G	MEFV_ENST00000339854.4_Intron|MEFV_ENST00000541159.1_Intron|MEFV_ENST00000536379.1_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	138			G -> A (association with renal amyloidosis). {ECO:0000269|PubMed:11139244}.		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						GGCTGGCAGCTCCGCCCCCGT	0.716													C|||	1936	0.386581	0.5257	0.5937	5008	,	,		11024	0.1587		0.4742	False		,,,				2504	0.1963															0								C	,	2119,2193		569,981,606	13	15	14		414,	-2.9	0	16	dbSNP_79	14	3830,4614		944,1942,1336	no	coding-synonymous,intron	MEFV	NM_000243.2,NM_001198536.1	,	1513,2923,1942	CC,CT,TT		45.3577,49.1419,46.6369	,	138/782,	3304654	5949,6807	2156	4222	6378	SO:0001819	synonymous_variant	4210			AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"Tripartite motif containing / Tripartite motif containing"	6998	protein-coding gene	gene with protein product	"pyrin"	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.414A>G	16.37:g.3304654T>C			D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Silent	SNP	ENST00000219596.1	37	CCDS10498.1																																																																																				0.716	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		C	3304654	T	C	3304654	2	2	728	1	0	0	0	0	0	0	0	1	9461	1538	54	3		3	MEFV	16	3304654	Silent	SNP	T	TCGA-KN-8422-01A-11D-2310-10	486602	3304654	87050099	52	40949											
FAM86A	196483	mdanderson.org	37	16	5141852	5141852	+	Silent	SNP	C	C	T	rs540885158	byFrequency	TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr16:5141852C>T	ENST00000427587.4	-	4	353	c.285G>A	c.(283-285)gcG>gcA	p.A95A	FAM86A_ENST00000458008.4_Intron|FAM86A_ENST00000587133.1_Intron	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN	family with sequence similarity 86, member A	95						cytoplasm (GO:0005737)				endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						TCTCCGCCAGCGCTTCATACA	0.577													c|||	30	0.00599042	0.0219	0.0014	5008	,	,		19555	0.0		0.0	False		,,,				2504	0.0															0													45	43	44					16																	5141852		2197	4300	6497	SO:0001819	synonymous_variant	196483			BC010084	CCDS10529.1, CCDS10530.1, CCDS73823.1	16p13.3	2012-11-07			ENSG00000118894	ENSG00000118894			32221	protein-coding gene	gene with protein product		615263					Standard	NM_201400		Approved	SB153, MGC19636	uc002cyo.2	Q96G04	OTTHUMG00000129527	ENST00000427587.4:c.285G>A	16.37:g.5141852C>T			D3DUF0|Q96S85	Silent	SNP	ENST00000427587.4	37	CCDS10529.1																																																																																				0.577	FAM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251713.1	NM_201400		T	5141852	C	T	5141852	2	4	728	1	0	0	0	0	0	0	0	1	5645	755	27	1		1	FAM86A	16	5141852	Silent	SNP	C	TCGA-KN-8422-01A-11D-2310-10	1837198	5141852	85212901	53	40950	368	2									
FAM86A	196483	mdanderson.org	37	16	5141855	5141855	+	Silent	SNP	T	T	C	rs529631996	byFrequency	TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr16:5141855T>C	ENST00000427587.4	-	4	350	c.282A>G	c.(280-282)gaA>gaG	p.E94E	FAM86A_ENST00000458008.4_Intron|FAM86A_ENST00000587133.1_Intron	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN	family with sequence similarity 86, member A	94						cytoplasm (GO:0005737)				endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						CCGCCAGCGCTTCATACAGCT	0.572													t|||	30	0.00599042	0.0219	0.0014	5008	,	,		18725	0.0		0.0	False		,,,				2504	0.0															0													46	44	45					16																	5141855		2197	4300	6497	SO:0001819	synonymous_variant	196483			BC010084	CCDS10529.1, CCDS10530.1, CCDS73823.1	16p13.3	2012-11-07			ENSG00000118894	ENSG00000118894			32221	protein-coding gene	gene with protein product		615263					Standard	NM_201400		Approved	SB153, MGC19636	uc002cyo.2	Q96G04	OTTHUMG00000129527	ENST00000427587.4:c.282A>G	16.37:g.5141855T>C			D3DUF0|Q96S85	Silent	SNP	ENST00000427587.4	37	CCDS10529.1																																																																																				0.572	FAM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251713.1	NM_201400		C	5141855	T	C	5141855	2	2	728	1	0	0	0	0	0	0	0	1	5645	1606	56	3		3	FAM86A	16	5141855	Silent	SNP	T	TCGA-KN-8422-01A-11D-2310-10	3	5141855	85212898	54	40951	368	2									
CLEC18B	497190	mdanderson.org	37	16	74444923	74444923	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr16:74444923C>T	ENST00000339953.5	-	9	1115	c.994G>A	c.(994-996)Ggg>Agg	p.G332R		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	332	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)	p.G332R(6)		endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GCCAGCACCCCGCCTTTCCTC	0.612																																																6	Substitution - Missense(6)	kidney(6)											61	70	67					16																	74444923		2189	4246	6435	SO:0001583	missense	497190			AY358373	CCDS32484.1	16q22.3	2010-04-27	2009-03-10	2009-03-10		ENSG00000140839		"C-type lectin domain containing"	33849	protein-coding gene	gene with protein product							Standard	NM_001011880		Approved		uc002fct.3	Q6UXF7		ENST00000339953.5:c.994G>A	16.37:g.74444923C>T	ENSP00000341051:p.Gly332Arg		B4DF90	Missense_Mutation	SNP	ENST00000339953.5	37	CCDS32484.1	.	.	.	.	.	.	.	.	.	.	N	16.90	3.249709	0.59212	.	.	ENSG00000140839	ENST00000429489;ENST00000339953	T	0.25749	1.78	3.14	3.14	0.36123	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.131736	0.49916	D	0.000130	T	0.59770	0.2218	H	0.95884	3.735	0.45354	D	0.998344	D;D	0.89917	1.0;1.0	D;D	0.75484	0.986;0.986	T	0.69716	-0.5070	10	0.87932	D	0	.	9.6467	0.39872	0.0:1.0:0.0:0.0	.	332;332	C9JSV1;Q6UXF7	.;CL18B_HUMAN	R	332	ENSP00000341051:G332R	ENSP00000341051:G332R	G	-	1	0	CLEC18B	73002424	0.998000	0.40836	0.928000	0.36995	0.695000	0.40330	6.316000	0.72857	1.602000	0.50124	0.425000	0.28330	GGG		0.612	CLEC18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434697.1	NM_001011880		T	74444923	C	T	74444923	3	4	728	1	0	0	0	0	1	0	0	0	3505	652	23	1	393	1	CLEC18B	16	74444923	Missense_Mutation	SNP	C	TCGA-KN-8422-01A-11D-2310-10	69303068	74444923	15909830	55	40952											
WDR59	79726	mdanderson.org	37	16	74942828	74942828	+	Missense_Mutation	SNP	A	A	G	rs201965155	byFrequency	TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr16:74942828A>G	ENST00000262144.6	-	17	1820	c.1690T>C	c.(1690-1692)Tct>Cct	p.S564P		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	564										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						TCTGTGGGAGACACCGCCCGA	0.567																																																0								A	PRO/SER	1,4395	2.1+/-5.4	0,1,2197	84	72	76		1690	5.4	1	16		76	1,8599	1.2+/-3.3	0,1,4299	yes	missense	WDR59	NM_030581.3	74	0,2,6496	GG,GA,AA		0.0116,0.0227,0.0154	benign	564/975	74942828	2,12994	2198	4300	6498	SO:0001583	missense	79726			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.1690T>C	16.37:g.74942828A>G	ENSP00000262144:p.Ser564Pro		B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43	Missense_Mutation	SNP	ENST00000262144.6	37	CCDS32488.1	.	.	.	.	.	.	.	.	.	.	A	14.64	2.595306	0.46318	2.27E-4	1.16E-4	ENSG00000103091	ENST00000262144	T	0.69435	-0.4	5.45	5.45	0.79879	.	0.052446	0.85682	D	0.000000	T	0.50582	0.1624	N	0.14661	0.345	0.50632	D	0.99988	B	0.02656	0.0	B	0.04013	0.001	T	0.43829	-0.9367	10	0.29301	T	0.29	-21.7048	15.8122	0.78573	1.0:0.0:0.0:0.0	.	564	Q6PJI9	WDR59_HUMAN	P	564	ENSP00000262144:S564P	ENSP00000262144:S564P	S	-	1	0	WDR59	73500329	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	6.070000	0.71220	2.200000	0.70718	0.477000	0.44152	TCT		0.567	WDR59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410601.3	NM_030581		G	74942828	A	G	74942828	3	3	728	1	0	0	0	0	1	0	0	0	17313	275	10	3	1274	3	WDR59	16	74942828	Missense_Mutation	SNP	A	TCGA-KN-8422-01A-11D-2310-10	497905	74942828	15411925	56	40953			2	90		3	3	38	N	T_A	3.213353e-09
WDR59	79726	mdanderson.org	37	16	74942844	74942844	+	Silent	SNP	T	T	C	rs147993698	byFrequency	TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr16:74942844T>C	ENST00000262144.6	-	17	1804	c.1674A>G	c.(1672-1674)acA>acG	p.T558T		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	558										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						CCCGATGCATTGTCATGGGCC	0.567													C|||	77	0.0153754	0.0325	0.0086	5008	,	,		17777	0.0079		0.0099	False		,,,				2504	0.0102															0													91	80	84					16																	74942844		2198	4300	6498	SO:0001819	synonymous_variant	79726			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.1674A>G	16.37:g.74942844T>C			B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43	Silent	SNP	ENST00000262144.6	37	CCDS32488.1																																																																																				0.567	WDR59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410601.3	NM_030581		C	74942844	T	C	74942844	2	2	728	1	0	0	0	0	0	0	0	1	17313	1799	63	3		3	WDR59	16	74942844	Silent	SNP	T	TCGA-KN-8422-01A-11D-2310-10	16	74942844	15411909	57	40954			2	90		3	3	38	N	T_A	3.213353e-09
WDR59	79726	mdanderson.org	37	16	74942865	74942865	+	Silent	SNP	T	T	C	rs141093453	byFrequency	TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr16:74942865T>C	ENST00000262144.6	-	17	1783	c.1653A>G	c.(1651-1653)gtA>gtG	p.V551V		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	551										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						TTGTGAAATATACCAGGTAAC	0.547																																																0													90	79	83					16																	74942865		2198	4300	6498	SO:0001819	synonymous_variant	79726			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.1653A>G	16.37:g.74942865T>C			B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43	Silent	SNP	ENST00000262144.6	37	CCDS32488.1																																																																																				0.547	WDR59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410601.3	NM_030581		C	74942865	T	C	74942865	2	2	728	1	0	0	0	0	0	0	0	1	17313	1393	49	3		3	WDR59	16	74942865	Silent	SNP	T	TCGA-KN-8422-01A-11D-2310-10	21	74942865	15411888	58	40955			2	90		3	3	38	N	T_A	3.213353e-09
CDH13	1012	broad.mit.edu	37	16	83636109	83636110	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr16:83636109_83636110insG	ENST00000566620.1	+	8	1301_1302	c.1011_1012insG	c.(1012-1014)ggafs	p.G338fs	CDH13_ENST00000268613.10_Frame_Shift_Ins_p.G385fs|CDH13_ENST00000428848.3_Frame_Shift_Ins_p.G299fs	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	338	Cadherin 2. {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)		AAGATATGGCTGGACTGGATGT	0.421																																																0																																										SO:0001589	frameshift_variant	1012			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.1013dupG	16.37:g.83636111_83636111dupG	ENSP00000454435:p.Gly338fs		A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Frame_Shift_Ins	INS	ENST00000566620.1	37	CCDS58486.1																																																																																				0.421	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1	NM_001257		G	83636110	-	G	83636109	7	5	728	1	0	1	1	0	0	0	0	0	3101	1567	55	0	1041	0	CDH13	16	83636109	Frame_Shift_Ins	INS	-	TCGA-KN-8422-01A-11D-2310-10	8693244	83636109	6718644	59	40956											
SPAG5	10615	broad.mit.edu	37	17	26919762	26919762	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr17:26919762T>C	ENST00000321765.5	-	3	832	c.500A>G	c.(499-501)gAc>gGc	p.D167G		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	167					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)				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)					CACCAGATCGTCTGTTCTCAA	0.478																																																0													149	146	147					17																	26919762		2203	4300	6503	SO:0001583	missense	10615			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.500A>G	17.37:g.26919762T>C	ENSP00000323300:p.Asp167Gly		O95213|Q9BWE8|Q9NT17|Q9UFE6	Missense_Mutation	SNP	ENST00000321765.5	37	CCDS32594.1	.	.	.	.	.	.	.	.	.	.	T	2.541	-0.306243	0.05458	.	.	ENSG00000076382	ENST00000321765	T	0.18810	2.19	5.94	-1.78	0.07957	.	0.956671	0.08687	N	0.908487	T	0.03739	0.0106	N	0.00162	-1.95	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43180	-0.9407	10	0.17369	T	0.5	0.0	6.4053	0.21660	0.0:0.4283:0.1351:0.4366	.	167	Q96R06	SPAG5_HUMAN	G	167	ENSP00000323300:D167G	ENSP00000323300:D167G	D	-	2	0	SPAG5	23943889	0.001000	0.12720	0.068000	0.19968	0.132000	0.20833	-1.047000	0.03521	-0.106000	0.12110	-0.132000	0.14878	GAC		0.478	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390564.2	NM_006461		C	26919762	T	C	26919762	3	2	728	1	0	0	0	0	1	0	0	0	14987	1667	58	3	3169	3	SPAG5	17	26919762	Missense_Mutation	SNP	T	TCGA-KN-8422-01A-11D-2310-10		26919762	54275448	60	40957											
ADCYAP1	116	mdanderson.org	37	18	907710	907710	+	Missense_Mutation	SNP	A	A	G	rs2856966	byFrequency	TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr18:907710A>G	ENST00000579794.1	+	2	439	c.161A>G	c.(160-162)gAt>gGt	p.D54G	RP11-672L10.2_ENST00000581719.2_RNA|ADCYAP1_ENST00000450565.3_Missense_Mutation_p.D54G|RP11-672L10.2_ENST00000580612.1_RNA|RP11-672L10.2_ENST00000577358.1_RNA|RP11-672L10.3_ENST00000582554.1_RNA	NM_001117.3	NP_001108.2	P18509	PACA_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary)	54			D -> G (in dbSNP:rs2856966). {ECO:0000269|PubMed:11968092, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:1730060, ECO:0000269|PubMed:1739432}.		activation of adenylate cyclase activity (GO:0007190)|ATP metabolic process (GO:0046034)|behavioral fear response (GO:0001662)|cAMP-mediated signaling (GO:0019933)|cell-cell signaling (GO:0007267)|cellular response to glucocorticoid stimulus (GO:0071385)|female pregnancy (GO:0007565)|histamine secretion (GO:0001821)|negative regulation of acute inflammatory response to antigenic stimulus (GO:0002865)|negative regulation of acute inflammatory response to non-antigenic stimulus (GO:0002878)|negative regulation of cell cycle (GO:0045786)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of Rho GTPase activity (GO:0034259)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|pituitary gland development (GO:0021983)|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 cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of somatostatin secretion (GO:0090274)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasodilation (GO:0045909)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)|regulation of postsynaptic membrane potential (GO:0060078)|regulation of protein localization (GO:0032880)|response to ethanol (GO:0045471)|response to starvation (GO:0042594)|sensory perception of pain (GO:0019233)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|terminal bouton (GO:0043195)	neuropeptide hormone activity (GO:0005184)|peptide hormone receptor binding (GO:0051428)|pituitary adenylate cyclase activating polypeptide activity (GO:0016521)|receptor binding (GO:0005102)|receptor signaling protein activity (GO:0005057)			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						CCAGACTTCGATGGCTCGGAg	0.736													A|||	721	0.14397	0.0953	0.1527	5008	,	,		7649	0.0565		0.2495	False		,,,				2504	0.1851															0								A	GLY/ASP,GLY/ASP	372,3918		17,338,1790	6	8	7		161,161	4	0.2	18	dbSNP_100	7	1799,6595		196,1407,2594	yes	missense,missense	ADCYAP1	NM_001099733.1,NM_001117.3	94,94	213,1745,4384	GG,GA,AA		21.432,8.6713,17.1161	benign,benign	54/177,54/177	907710	2171,10513	2145	4197	6342	SO:0001583	missense	116			S83513	CCDS11825.1	18p11	2013-02-28			ENSG00000141433	ENSG00000141433		"Endogenous ligands"	241	protein-coding gene	gene with protein product	"prepro-PACAP"	102980				1730060	Standard	NM_001099733		Approved	PACAP	uc010dkh.4	P18509	OTTHUMG00000131479	ENST00000579794.1:c.161A>G	18.37:g.907710A>G	ENSP00000462647:p.Asp54Gly		B2R7N4|Q52LQ0	Missense_Mutation	SNP	ENST00000579794.1	37	CCDS11825.1	321	0.14697802197802198	55	0.11178861788617886	62	0.1712707182320442	34	0.05944055944055944	170	0.22427440633245382	A	1.915	-0.449794	0.04572	0.086713	0.21432	ENSG00000141433	ENST00000450565;ENST00000400219;ENST00000269200	.	.	.	3.95	3.95	0.45737	.	0.459988	0.24710	N	0.036227	T	0.00012	0.0000	N	0.08118	0	0.52501	P	4.099999999995774E-5	B	0.09022	0.002	B	0.01281	0.0	T	0.13980	-1.0489	8	0.21014	T	0.42	.	7.8153	0.29256	0.9042:0.0:0.0958:0.0	rs2856966;rs58369534;rs2856966	54	P18509	PACA_HUMAN	G	193;54;54	.	ENSP00000269200:D54G	D	+	2	0	ADCYAP1	897710	0.778000	0.28640	0.216000	0.23742	0.004000	0.04260	1.322000	0.33689	2.019000	0.59389	0.379000	0.24179	GAT		0.736	ADCYAP1-003	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440765.3	NM_001117		G	907710	A	G	907710	3	3	728	1	0	0	0	0	1	0	0	0	302	333	12	3	167	3	ADCYAP1	18	907710	Missense_Mutation	SNP	A	TCGA-KN-8422-01A-11D-2310-10		907710	77169538	61	40958											
MAST1	1777	broad.mit.edu;mdanderson.org;bcgsc.ca	37	19	12985463	12985463	+	IGR	SNP	C	C	A			TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr19:12985463C>A	ENST00000222219.3	-	0	1955				AC020934.1_ENST00000578125.1_RNA|MAST1_ENST00000251472.4_Missense_Mutation_p.P1498T	NM_001375.2	NP_001366.1	O00115	DNS2A_HUMAN	deoxyribonuclease II, lysosomal						apoptotic DNA fragmentation (GO:0006309)|DNA metabolic process (GO:0006259)|erythrocyte differentiation (GO:0030218)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lysosome (GO:0005764)	deoxyribonuclease II activity (GO:0004531)|DNA binding (GO:0003677)			breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						TCGCTCCAAGCCCGCCTCCCC	0.721																																																0													21	19	20					19																	12985463		2195	4294	6489	SO:0001628	intergenic_variant	22983			AF045937	CCDS12284.1	19p13.2	2012-10-02			ENSG00000105612	ENSG00000105612	3.1.22.1		2960	protein-coding gene	gene with protein product		126350		DNL, DNL2		1586130	Standard	NM_001375		Approved		uc002mvn.1	O00115			19.37:g.12985463C>A			B2RD06|B7Z4K6|O43910	Missense_Mutation	SNP	ENST00000222219.3	37	CCDS12284.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.033777	0.35893	.	.	ENSG00000105613	ENST00000251472	T	0.66995	-0.24	5.49	5.49	0.81192	.	0.520555	0.17475	N	0.172942	T	0.67107	0.2858	N	0.14661	0.345	0.44927	D	0.997947	D	0.89917	1.0	D	0.79108	0.992	T	0.61128	-0.7125	10	0.16896	T	0.51	-17.0268	14.8889	0.70590	0.0:1.0:0.0:0.0	.	1498	Q9Y2H9	MAST1_HUMAN	T	1498	ENSP00000251472:P1498T	ENSP00000251472:P1498T	P	+	1	0	MAST1	12846463	0.998000	0.40836	0.994000	0.49952	0.383000	0.30230	2.684000	0.46951	2.589000	0.87451	0.650000	0.86243	CCC		0.721	DNASE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451790.1			A	12985463	C	A	12985463	1	1	728	0	1	0	0	0	0	0	0	0	9326	739	26	4		4	MAST1	19	12985463	IGR	SNP	C	TCGA-KN-8422-01A-11D-2310-10		12985463	46143520	62	40959											
MYO9B	4650	broad.mit.edu	37	19	17321179	17321179	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr19:17321179A>G	ENST00000594824.1	+	37	5933	c.5786A>G	c.(5785-5787)gAg>gGg	p.E1929G	MYO9B_ENST00000397274.2_Missense_Mutation_p.E1929G|MYO9B_ENST00000595618.1_Missense_Mutation_p.E1929G|CTD-3032J10.3_ENST00000601929.1_RNA			Q13459	MYO9B_HUMAN	myosin IXB	1929	Tail.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						TCTCCCTATGAGGGGGTCCTG	0.632																																																0													79	78	78					19																	17321179		2027	4190	6217	SO:0001583	missense	4650				CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"Myosins / Myosin superfamily : Class IX"	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.5786A>G	19.37:g.17321179A>G	ENSP00000471367:p.Glu1929Gly		O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000594824.1	37		.	.	.	.	.	.	.	.	.	.	A	23.8	4.457778	0.84317	.	.	ENSG00000099331	ENST00000397274;ENST00000319396	D	0.85339	-1.97	4.86	4.86	0.63082	.	0.000000	0.49305	D	0.000144	D	0.89884	0.6844	L	0.56769	1.78	0.44668	D	0.997659	D;D	0.76494	0.999;0.999	D;D	0.75484	0.986;0.986	D	0.89121	0.3503	10	0.38643	T	0.18	.	13.6066	0.62050	1.0:0.0:0.0:0.0	.	1929;1935	Q13459;Q4LE74	MYO9B_HUMAN;.	G	1929;274	ENSP00000380444:E1929G	ENSP00000314032:E274G	E	+	2	0	MYO9B	17182179	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.366000	0.79548	1.818000	0.53035	0.459000	0.35465	GAG		0.632	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			G	17321179	A	G	17321179	3	3	728	1	0	0	0	0	1	0	0	0	10087	304	11	3	5928	3	MYO9B	19	17321179	Missense_Mutation	SNP	A	TCGA-KN-8422-01A-11D-2310-10	4335716	17321179	41807804	63	40960											
PSG9	5678	mdanderson.org	37	19	43763023	43763023	+	Missense_Mutation	SNP	A	A	G	rs1135905	byFrequency	TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr19:43763023A>G	ENST00000270077.3	-	4	1070	c.974T>C	c.(973-975)aTc>aCc	p.I325T	PSG9_ENST00000443718.3_Missense_Mutation_p.I232T|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000418820.2_Missense_Mutation_p.I232T|PSG9_ENST00000593948.1_Intron|PSG9_ENST00000244293.7_Intron	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	325	Ig-like C2-type 2.		I -> T (in dbSNP:rs1135905).		female pregnancy (GO:0007565)	extracellular region (GO:0005576)				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)				GACATTTAGGATGACTGGGTT	0.502													A|||	285	0.0569089	0.0567	0.0403	5008	,	,		15899	0.0685		0.0487	False		,,,				2504	0.0654															0								A	THR/ILE	171,4097		36,99,1999	98	101	100		974	0.2	0	19	dbSNP_86	100	278,8278		25,228,4025	no	missense	PSG9	NM_002784.3	89	61,327,6024	GG,GA,AA		3.2492,4.0066,3.5012	benign	325/427	43763023	449,12375	2134	4278	6412	SO:0001583	missense	5678			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.974T>C	19.37:g.43763023A>G	ENSP00000270077:p.Ile325Thr		B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	ENST00000270077.3	37	CCDS12618.1	106	0.048534798534798536	19	0.03861788617886179	19	0.052486187845303865	37	0.06468531468531469	31	0.040897097625329816	N	0	-2.853274	0.00066	0.040066	0.032492	ENSG00000183668	ENST00000270077;ENST00000443718;ENST00000435220	T;T	0.11063	2.81;2.81	1.39	0.2	0.15181	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00210	0.0006	N	0.00101	-2.135	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.41610	-0.9499	9	0.02654	T	1	.	4.0401	0.09748	0.2545:0.0:0.7455:0.0	rs1135905;rs3179039;rs3198901;rs17420337	232;325	E7EW65;Q00887	.;PSG9_HUMAN	T	325;232;286	ENSP00000270077:I325T;ENSP00000396753:I232T	ENSP00000270077:I325T	I	-	2	0	PSG9	48454863	0.008000	0.16893	0.013000	0.15412	0.002000	0.02628	0.050000	0.14120	-0.070000	0.12908	-1.355000	0.01225	ATC		0.502	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323065.1	NM_002784		G	43763023	A	G	43763023	3	3	728	1	0	0	0	0	1	0	0	0	12667	333	12	3	318	3	PSG9	19	43763023	Missense_Mutation	SNP	A	TCGA-KN-8422-01A-11D-2310-10	26441844	43763023	15365960	64	40961											
TPRX1	284355	mdanderson.org	37	19	48305555	48305555	+	Missense_Mutation	SNP	G	G	A	rs147380237		TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr19:48305555G>A	ENST00000322175.3	-	2	868	c.713C>T	c.(712-714)cCg>cTg	p.P238L	TPRX1_ENST00000543508.1_Missense_Mutation_p.P228L|TPRX1_ENST00000535759.1_Missense_Mutation_p.P335L	NM_198479.2	NP_940881.2	Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	238	Gly-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		gcctgggatcgggcctgggtt	0.662																																					Esophageal Squamous(123;175 2281 3051 32395)											0													10	8	9					19																	48305555		2095	4129	6224	SO:0001583	missense	284355				CCDS33066.1	19q13.33	2011-07-08			ENSG00000178928	ENSG00000178928		"Homeoboxes / PRD class"	32174	protein-coding gene	gene with protein product		611166					Standard	XM_005258788		Approved	FLJ40321	uc002php.2	Q8N7U7		ENST00000322175.3:c.713C>T	19.37:g.48305555G>A	ENSP00000323455:p.Pro238Leu		A5D8Y3|B2RPL5	Missense_Mutation	SNP	ENST00000322175.3	37	CCDS33066.1	24	0.01098901098901099	0	0.0	3	0.008287292817679558	0	0.0	21	0.027704485488126648	g	8.014	0.758252	0.15846	.	.	ENSG00000178928	ENST00000322175;ENST00000535759;ENST00000543508	D;D	0.93659	-2.01;-3.26	0.495	0.495	0.16890	.	.	.	.	.	T	0.79936	0.4532	N	0.14661	0.345	0.09310	N	1	D	0.76494	0.999	P	0.60286	0.872	T	0.76977	-0.2759	8	0.45353	T	0.12	.	.	.	.	.	238	Q8N7U7	TPRX1_HUMAN	L	238;335;228	ENSP00000323455:P238L;ENSP00000438832:P335L	ENSP00000323455:P238L	P	-	2	0	TPRX1	52997367	0.000000	0.05858	0.020000	0.16555	0.015000	0.08874	-2.180000	0.01258	0.561000	0.29186	0.420000	0.28162	CCG		0.662	TPRX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409868.1	NM_198479		A	48305555	G	A	48305555	3	1	728	1	0	0	0	0	1	0	0	0	16427	1116	39	1	526	1	TPRX1	19	48305555	Missense_Mutation	SNP	G	TCGA-KN-8422-01A-11D-2310-10	4542532	48305555	10823428	65	40962											
SIGLEC14	100049587	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	19	52149193	52149193	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr19:52149193G>A	ENST00000360844.6	-	3	583	c.542C>T	c.(541-543)aCg>aTg	p.T181M	SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000534261.2_5'Flank	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	181	Ig-like C2-type 1.				cell adhesion (GO:0007155)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.T181M(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		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		GGCATTCCCCGTCCAGGAGAA	0.657																																																2	Substitution - Missense(2)	ovary(2)																																								SO:0001583	missense	100049587			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.542C>T	19.37:g.52149193G>A	ENSP00000354090:p.Thr181Met		Q6UXG0	Missense_Mutation	SNP	ENST00000360844.6	37	CCDS42604.1	.	.	.	.	.	.	.	.	.	.	G	4.638	0.118691	0.08881	.	.	ENSG00000254415	ENST00000360844	D	0.86432	-2.12	3.09	-6.18	0.02085	Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	2.183180	0.02203	N	0.062409	T	0.73401	0.3582	N	0.16266	0.395	0.09310	N	1	D	0.55172	0.97	P	0.45232	0.474	T	0.68712	-0.5336	10	0.07990	T	0.79	.	4.391	0.11341	0.5534:0.0:0.1647:0.2819	.	181	Q08ET2	SIG14_HUMAN	M	181	ENSP00000354090:T181M	ENSP00000354090:T181M	T	-	2	0	SIGLEC14	56841005	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-5.926000	0.00090	-1.582000	0.01640	0.508000	0.49915	ACG		0.657	SIGLEC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466899.2	NM_001098612		A	52149193	G	A	52149193	3	1	728	1	0	0	0	0	1	0	0	0	14315	1145	40	1	668	1	SIGLEC14	19	52149193	Missense_Mutation	SNP	G	TCGA-KN-8422-01A-11D-2310-10	3843638	52149193	6979790	66	40963											
ZNF528	84436	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	52909852	52909852	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr19:52909852C>T	ENST00000360465.3	+	6	653	c.227C>T	c.(226-228)gCa>gTa	p.A76V	ZNF528_ENST00000598192.1_Missense_Mutation_p.A76V|ZNF528_ENST00000391788.2_Missense_Mutation_p.A66V|ZNF528_ENST00000594530.1_Missense_Mutation_p.A76V	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	76	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		GAGAAAATAGCAAACGATCCA	0.463																																																0													103	99	100					19																	52909852		2203	4300	6503	SO:0001583	missense	84436			AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"Zinc fingers, C2H2-type", "-"	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.227C>T	19.37:g.52909852C>T	ENSP00000353652:p.Ala76Val		B3KPN4|Q86T88|Q96JK0	Missense_Mutation	SNP	ENST00000360465.3	37	CCDS33091.1	.	.	.	.	.	.	.	.	.	.	C	8.296	0.818786	0.16607	.	.	ENSG00000167555	ENST00000391788;ENST00000391787;ENST00000360465	T;T;T	0.05199	5.56;5.63;3.48	1.47	-1.01	0.10169	Krueppel-associated box (1);	.	.	.	.	T	0.04998	0.0134	L	0.47078	1.49	0.09310	N	1	B	0.18610	0.029	B	0.12837	0.008	T	0.44832	-0.9302	9	0.22109	T	0.4	.	2.7793	0.05356	0.0:0.487:0.3032:0.2098	.	76	Q3MIS6	ZN528_HUMAN	V	66;76;76	ENSP00000375665:A66V;ENSP00000375664:A76V;ENSP00000353652:A76V	ENSP00000353652:A76V	A	+	2	0	ZNF528	57601664	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.449000	0.02392	-0.197000	0.10350	-0.373000	0.07131	GCA		0.463	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344336.1	NM_032423		T	52909852	C	T	52909852	3	4	728	1	0	0	0	0	1	0	0	0	17974	710	25	2	237	2	ZNF528	19	52909852	Missense_Mutation	SNP	C	TCGA-KN-8422-01A-11D-2310-10	760659	52909852	6219131	67	40964											
NLRP7	199713	hgsc.bcm.edu;mdanderson.org	37	19	55450827	55450827	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr19:55450827G>A	ENST00000590030.1	-	3	1400	c.1360C>T	c.(1360-1362)Ctc>Ttc	p.L454F	NLRP7_ENST00000446217.1_Missense_Mutation_p.L482F|NLRP7_ENST00000340844.2_Missense_Mutation_p.L454F|NLRP7_ENST00000448121.2_Missense_Mutation_p.L454F|NLRP7_ENST00000592784.1_Missense_Mutation_p.L454F|NLRP7_ENST00000328092.5_Missense_Mutation_p.L454F|NLRP7_ENST00000588756.1_Missense_Mutation_p.L454F			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	454	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)		TCCTGGCGGAGGATGTCTCCG	0.617																																																0													35	33	34					19																	55450827		2203	4296	6499	SO:0001583	missense	199713			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.1360C>T	19.37:g.55450827G>A	ENSP00000465520:p.Leu454Phe		E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.153871	0.38021	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217;ENST00000399724	T;T;T;T	0.72615	-0.64;-0.64;-0.67;-0.62	1.92	0.761	0.18448	.	0.000000	0.30134	N	0.010329	T	0.68100	0.2964	L	0.52905	1.665	0.09310	N	1	P;P;P;P	0.52842	0.927;0.927;0.927;0.956	P;P;P;P	0.53593	0.685;0.542;0.542;0.73	T	0.57260	-0.7842	10	0.33940	T	0.23	.	5.2422	0.15477	0.0:0.0:0.6591:0.3409	.	482;454;454;454	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	F	454;454;454;482;221	ENSP00000329568:L454F;ENSP00000409137:L454F;ENSP00000339491:L454F;ENSP00000414273:L482F	ENSP00000329568:L454F	L	-	1	0	NLRP7	60142639	0.042000	0.20092	0.010000	0.14722	0.052000	0.14988	1.187000	0.32090	0.313000	0.23062	0.462000	0.41574	CTC		0.617	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		A	55450827	G	A	55450827	3	1	728	1	0	0	0	0	1	0	0	0	10484	1000	35	2	1785	2	NLRP7	19	55450827	Missense_Mutation	SNP	G	TCGA-KN-8422-01A-11D-2310-10	2540975	55450827	3678156	68	40965											
GART	2618	mdanderson.org	37	21	34903861	34903861	+	Missense_Mutation	SNP	C	C	A	rs142038738		TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr21:34903861C>A	ENST00000381831.3	-	6	794	c.531G>T	c.(529-531)gaG>gaT	p.E177D	GART_ENST00000381815.4_Missense_Mutation_p.E177D|GART_ENST00000497313.1_5'UTR|GART_ENST00000361093.5_Missense_Mutation_p.E177D|GART_ENST00000381839.3_Missense_Mutation_p.E177D	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	177	ATP-grasp.				'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|glycine metabolic process (GO:0006544)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|phosphoribosylamine-glycine ligase activity (GO:0004637)|phosphoribosylformylglycinamidine cyclo-ligase activity (GO:0004641)|phosphoribosylglycinamide formyltransferase activity (GO:0004644)			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	CAAAGGCTTTCTCCTGATTGT	0.328													C|||	1	0.000199681	0.0	0.0014	5008	,	,		13906	0.0		0.0	False		,,,				2504	0.0															0								C	ASP/GLU,ASP/GLU,ASP/GLU,ASP/GLU	2,4404	4.2+/-10.8	0,2,2201	100	101	101		531,531,531,531	-3.2	0.9	21	dbSNP_134	101	16,8584	11.9+/-42.8	0,16,4284	yes	missense,missense,missense,missense	GART	NM_000819.4,NM_001136005.1,NM_001136006.1,NM_175085.2	45,45,45,45	0,18,6485	AA,AC,CC		0.186,0.0454,0.1384	benign,benign,benign,benign	177/1011,177/1011,177/1011,177/434	34903861	18,12988	2203	4300	6503	SO:0001583	missense	2618			M32082	CCDS13627.1, CCDS13628.1	21q22.11	2012-10-02			ENSG00000159131	ENSG00000159131	2.1.2.2, 6.3.3.1, 6.3.4.13		4163	protein-coding gene	gene with protein product		138440		PRGS, PGFT		2050105	Standard	NM_001136005		Approved		uc002yrx.3	P22102	OTTHUMG00000065628	ENST00000381831.3:c.531G>T	21.37:g.34903861C>A	ENSP00000371253:p.Glu177Asp		A8K945|A8KA32|D3DSF3|D3DSF4|O14659|Q52M77	Missense_Mutation	SNP	ENST00000381831.3	37	CCDS13627.1	.	.	.	.	.	.	.	.	.	.	C	5.450	0.268162	0.10349	4.54E-4	0.00186	ENSG00000159131	ENST00000381815;ENST00000381831;ENST00000381839;ENST00000361093;ENST00000430874;ENST00000426819	T;T;T;T;T;T	0.44482	1.53;1.53;1.53;1.54;0.94;0.92	6.07	-3.18	0.05186	ATP-grasp fold (1);ATP-grasp fold, subdomain 1 (1);Phosphoribosylglycinamide synthetase, ATP-grasp (A) domain (1);	0.172604	0.64402	N	0.000009	T	0.09818	0.0241	N	0.01003	-1.06	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.09618	-1.0666	10	0.33141	T	0.24	-6.3852	0.8613	0.01194	0.4025:0.2436:0.1422:0.2117	.	177	P22102	PUR2_HUMAN	D	177	ENSP00000371236:E177D;ENSP00000371253:E177D;ENSP00000371261:E177D;ENSP00000354388:E177D;ENSP00000413040:E177D;ENSP00000398631:E177D	ENSP00000354388:E177D	E	-	3	2	GART	33825731	0.902000	0.30710	0.936000	0.37596	0.897000	0.52465	0.030000	0.13688	-0.809000	0.04381	0.650000	0.86243	GAG		0.328	GART-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140626.3	NM_000819		A	34903861	C	A	34903861	3	1	728	1	0	0	0	0	1	0	0	0	6245	912	32	4	2573	4	GART	21	34903861	Missense_Mutation	SNP	C	TCGA-KN-8422-01A-11D-2310-10		34903861	13226034	69	40966											
SLC19A1	6573	mdanderson.org	37	21	46951556	46951556	+	Silent	SNP	A	A	G	rs12659	byFrequency	TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr21:46951556A>G	ENST00000311124.4	-	3	848	c.696T>C	c.(694-696)ccT>ccC	p.P232P	SLC19A1_ENST00000380010.4_Silent_p.P232P|SLC19A1_ENST00000485649.2_Silent_p.P192P|SLC19A1_ENST00000567670.1_Silent_p.P232P	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	232					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)	CGCCTGGGCCAGGATTCATGC	0.711													G|||	2770	0.553115	0.5189	0.5908	5008	,	,		12778	0.4752		0.5557	False		,,,				2504	0.6503															0								G	,,	2461,1943		713,1035,454	31	37	35		696,576,696	-6.6	0	21	dbSNP_52	35	4985,3615		1473,2039,788	no	coding-synonymous,coding-synonymous,coding-synonymous	SLC19A1	NM_001205206.1,NM_001205207.1,NM_194255.2	,,	2186,3074,1242	GG,GA,AA		42.0349,44.119,42.7407	,,	232/490,192/552,232/592	46951556	7446,5558	2202	4300	6502	SO:0001819	synonymous_variant	6573			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.696T>C	21.37:g.46951556A>G			B2R7U8|B7Z8C3|E9PFY4|O00553|O60227|Q13026|Q9BTX8	Silent	SNP	ENST00000311124.4	37	CCDS13725.1																																																																																				0.711	SLC19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206796.1			G	46951556	A	G	46951556	2	3	728	1	0	0	0	0	0	0	0	1	14434	175	7	3		3	SLC19A1	21	46951556	Silent	SNP	A	TCGA-KN-8422-01A-11D-2310-10	12047695	46951556	1178339	70	40967											
FAM9A	171482	broad.mit.edu	37	X	8767124	8767124	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chrX:8767124C>T	ENST00000543214.1	-	3	238	c.103G>A	c.(103-105)Gcc>Acc	p.A35T	FAM9A_ENST00000381003.3_Missense_Mutation_p.A35T	NM_001171186.1	NP_001164657.1	Q8IZU1	FAM9A_HUMAN	family with sequence similarity 9, member A	35						nucleus (GO:0005634)				endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18		Hepatocellular(5;0.219)				AAGTTAGAGGCGATCCCTGAA	0.542																																																0													55	42	46					X																	8767124		2202	4277	6479	SO:0001583	missense	171482				CCDS14131.1	Xp22.32	2012-11-29			ENSG00000183304	ENSG00000183304			18403	protein-coding gene	gene with protein product	"testis expressed 39A"	300477					Standard	NM_174951		Approved	TEX39A	uc004csg.3	Q8IZU1	OTTHUMG00000021110	ENST00000543214.1:c.103G>A	X.37:g.8767124C>T	ENSP00000440163:p.Ala35Thr		B7ZLH5|Q2M2D1	Missense_Mutation	SNP	ENST00000543214.1	37	CCDS14131.1	.	.	.	.	.	.	.	.	.	.	c	4.889	0.165142	0.09339	.	.	ENSG00000183304	ENST00000381003;ENST00000543214	.	.	.	0.439	-0.879	0.10613	.	.	.	.	.	T	0.20577	0.0495	L	0.27053	0.805	0.09310	N	1	D	0.65815	0.995	P	0.45971	0.499	T	0.12243	-1.0555	7	0.48119	T	0.1	.	.	.	.	.	35	Q8IZU1	FAM9A_HUMAN	T	35	.	ENSP00000370391:A35T	A	-	1	0	FAM9A	8727124	0.184000	0.23200	0.002000	0.10522	0.002000	0.02628	0.759000	0.26461	-0.536000	0.06298	-0.544000	0.04233	GCC		0.542	FAM9A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055697.1	NM_174951		T	8767124	C	T	8767124	3	4	728	1	0	0	0	0	1	0	0	0	5661	768	27	1	923	1	FAM9A	23	8767124	Missense_Mutation	SNP	C	TCGA-KN-8422-01A-11D-2310-10		8767124	146503436	71	40968											
NRD1	4898	mdanderson.org	37	1	52306079	52306079	+	Missense_Mutation	SNP	T	T	A	rs62648104		TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr1:52306079T>A	ENST00000354831.7	-	2	638	c.449A>T	c.(448-450)gAg>gTg	p.E150V	NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000544028.1_Missense_Mutation_p.E18V|NRD1_ENST00000539524.1_Missense_Mutation_p.E18V|NRD1_ENST00000352171.7_Missense_Mutation_p.E150V	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	0	Asp/Glu-rich (highly acidic).|Poly-Glu.				cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						ttcttcttcctccacctcctc	0.378																																																0													163	138	146					1																	52306079		2203	4300	6503	SO:0001583	missense	4898			X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.449A>T	1.37:g.52306079T>A	ENSP00000346890:p.Glu150Val		A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Missense_Mutation	SNP	ENST00000354831.7	37	CCDS559.1	.	.	.	.	.	.	.	.	.	.	T	3.056	-0.194350	0.06259	.	.	ENSG00000078618	ENST00000352171;ENST00000354831;ENST00000539524;ENST00000546169;ENST00000544028	T;T;T;T	0.38240	1.31;3.15;1.15;1.22	5.25	2.92	0.33932	Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.525899	0.19688	N	0.108344	T	0.18341	0.0440	N	0.14661	0.345	0.09310	N	1	B;B;B	0.23650	0.062;0.089;0.01	B;B;B	0.17098	0.017;0.007;0.007	T	0.14755	-1.0461	10	0.38643	T	0.18	-0.0317	5.1939	0.15225	0.0:0.1704:0.2022:0.6274	rs62648104	150;150;150	F5H6R2;O43847;B1AKJ5	.;NRDC_HUMAN;.	V	150;150;18;150;18	ENSP00000262679:E150V;ENSP00000346890:E150V;ENSP00000444416:E18V;ENSP00000442262:E18V	ENSP00000262679:E150V	E	-	2	0	NRD1	52078667	0.129000	0.22400	0.012000	0.15200	0.145000	0.21501	0.870000	0.28010	0.317000	0.23160	0.454000	0.30748	GAG		0.378	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	NM_002525		A	52306079	T	A	52306079	3	1	729	1	0	0	0	0	1	0	0	0	10647	1551	54	5	3338	5	NRD1	1	52306079	Missense_Mutation	SNP	T	TCGA-KN-8423-01A-11D-2310-10		52306079	196944542	1	40969											
MTX1	4580	mdanderson.org	37	1	155178782	155178782	+	Missense_Mutation	SNP	A	A	T	rs760077	byFrequency	TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr1:155178782A>T	ENST00000368376.3	+	1	293	c.187A>T	c.(187-189)Act>Tct	p.T63S	MTX1_ENST00000609421.1_5'Flank|THBS3_ENST00000486260.1_5'UTR|THBS3_ENST00000368378.3_5'Flank|MTX1_ENST00000316721.4_Missense_Mutation_p.T63S|THBS3_ENST00000457183.2_5'Flank|THBS3_ENST00000541990.1_5'Flank|RP11-263K19.6_ENST00000455788.1_RNA	NM_002455.3	NP_002446.2	Q13505	MTX1_HUMAN	metaxin 1	63			T -> S (in dbSNP:rs760077). {ECO:0000269|PubMed:15489334, ECO:0000269|Ref.5}.		cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)				breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	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)			GCGCCGTGACACTCCGAGGCG	0.761													T|||	3339	0.666733	0.6331	0.7608	5008	,	,		8727	0.7738		0.6054	False		,,,				2504	0.5982															0								T	SER/THR,SER/THR	2914,1394		1026,862,266	7	11	10		187,187	-2.4	0	1	dbSNP_86	10	5140,3348		1612,1916,716	yes	missense,missense	MTX1	NM_002455.3,NM_198883.2	58,58	2638,2778,982	TT,TA,AA		39.4439,32.3584,37.0585	benign,benign	63/467,63/436	155178782	8054,4742	2154	4244	6398	SO:0001583	missense	4580				CCDS1100.1, CCDS1101.1	1q21	2008-07-18			ENSG00000173171	ENSG00000173171			7504	protein-coding gene	gene with protein product		600605		MTX		7753840	Standard	XM_006711338		Approved	MTXN	uc001fjb.3	Q13505	OTTHUMG00000035708	ENST00000368376.3:c.187A>T	1.37:g.155178782A>T	ENSP00000357360:p.Thr63Ser		B1AVR9|B1AVS0|B2R9P4|Q9BUU3	Missense_Mutation	SNP	ENST00000368376.3	37	CCDS1100.1	1515	0.6936813186813187	314	0.6382113821138211	252	0.6961325966850829	474	0.8286713286713286	475	0.6266490765171504	T	10.85	1.466570	0.26335	0.676416	0.605561	ENSG00000173171	ENST00000368376;ENST00000316721	T;T	0.27890	1.64;1.64	4.25	-2.39	0.06602	.	0.398228	0.18519	N	0.138831	T	0.01320	0.0043	N	0.01168	-0.975	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.22591	-1.0212	9	0.02654	T	1	-7.2218	0.3438	0.00338	0.2917:0.2744:0.1499:0.2841	rs760077;rs57404131	63;63	Q13505-2;Q13505	.;MTX1_HUMAN	S	63	ENSP00000357360:T63S;ENSP00000317106:T63S	ENSP00000317106:T63S	T	+	1	0	MTX1	153445406	0.001000	0.12720	0.000000	0.03702	0.015000	0.08874	-0.293000	0.08320	-0.656000	0.05380	-0.257000	0.10917	ACT		0.761	MTX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000086844.1	NM_198883		T	155178782	A	T	155178782	3	4	729	1	0	0	0	0	1	0	0	0	9969	159	6	5	189	5	MTX1	1	155178782	Missense_Mutation	SNP	A	TCGA-KN-8423-01A-11D-2310-10	102872703	155178782	94071839	2	40970											
HNRNPU	3192	broad.mit.edu	37	1	245022136	245022136	+	Silent	SNP	T	T	C			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr1:245022136T>C	ENST00000283179.9	-	6	1288	c.1125A>G	c.(1123-1125)gaA>gaG	p.E375E	HNRNPU_ENST00000444376.2_Silent_p.E356E			Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	375	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasmic ribonucleoprotein granule (GO:0036464)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			AAGAAAATTCTTCTTCACCTA	0.289																																					NSCLC(33;911 1010 3329 23631 49995)											0													69	69	69					1																	245022136		2202	4292	6494	SO:0001819	synonymous_variant	3192			X65488	CCDS31081.1, CCDS41479.1	1q44	2011-10-24		2007-08-16	ENSG00000153187	ENSG00000153187			5048	protein-coding gene	gene with protein product		602869		HNRPU		7509195, 8068679	Standard	NM_031844		Approved	SAF-A, hnRNPU	uc001iaz.1	Q00839	OTTHUMG00000040396	ENST00000283179.9:c.1125A>G	1.37:g.245022136T>C			O75507|Q8N174|Q96HY9|Q9BQ09	Silent	SNP	ENST00000283179.9	37	CCDS41479.1																																																																																				0.289	HNRNPU-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097163.3	NM_031844		C	245022136	T	C	245022136	2	2	729	1	0	0	0	0	0	0	0	1	7275	1606	56	3		3	HNRNPU	1	245022136	Silent	SNP	T	TCGA-KN-8423-01A-11D-2310-10	89843354	245022136	4228485	3	40971											
KYNU	8942	broad.mit.edu	37	2	143718278	143718278	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr2:143718278T>C	ENST00000264170.4	+	8	926	c.668T>C	c.(667-669)gTg>gCg	p.V223A	KYNU_ENST00000409512.1_Missense_Mutation_p.V223A|KYNU_ENST00000375773.2_Missense_Mutation_p.V223A	NM_003937.2	NP_003928.1			kynureninase											large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)		TTCAGTGGGGTGCATTTTTAC	0.428																																																0													143	139	140					2																	143718278		2203	4300	6503	SO:0001583	missense	8942			U57721	CCDS2183.1, CCDS33299.1	2q22.2	2010-11-23	2010-11-23		ENSG00000115919	ENSG00000115919	3.7.1.3		6469	protein-coding gene	gene with protein product	"L-kynurenine hydrolase"	605197	"kynureninase (L-kynurenine hydrolase)"			8706755, 9180257	Standard	NM_001199241		Approved		uc002tvl.3	Q16719	OTTHUMG00000131829	ENST00000264170.4:c.668T>C	2.37:g.143718278T>C	ENSP00000264170:p.Val223Ala			Missense_Mutation	SNP	ENST00000264170.4	37	CCDS2183.1	.	.	.	.	.	.	.	.	.	.	T	19.87	3.906706	0.72868	.	.	ENSG00000115919	ENST00000264170;ENST00000375773;ENST00000409512	T;T;T	0.56776	0.44;0.44;0.44	5.35	5.35	0.76521	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.467479	0.21519	N	0.073244	T	0.77425	0.4128	M	0.90019	3.08	0.80722	D	1	D;P	0.55800	0.973;0.785	D;P	0.69824	0.966;0.852	T	0.82341	-0.0505	10	0.87932	D	0	.	15.3368	0.74263	0.0:0.0:0.0:1.0	.	223;223	Q16719;Q9BVW3	KYNU_HUMAN;.	A	223	ENSP00000264170:V223A;ENSP00000364928:V223A;ENSP00000386731:V223A	ENSP00000264170:V223A	V	+	2	0	KYNU	143434748	1.000000	0.71417	0.907000	0.35723	0.507000	0.33981	7.639000	0.83342	2.156000	0.67533	0.524000	0.50904	GTG		0.428	KYNU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254772.1	NM_001032998		C	143718278	T	C	143718278	3	2	729	1	0	0	0	0	1	0	0	0	8589	1696	59	3	694	3	KYNU	2	143718278	Missense_Mutation	SNP	T	TCGA-KN-8423-01A-11D-2310-10		143718278	99481095	4	40972											
DNAJB2	3300	hgsc.bcm.edu	37	2	220149586	220149586	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr2:220149586G>T	ENST00000336576.5	+	9	1140	c.852G>T	c.(850-852)caG>caT	p.Q284H	DNAJB2_ENST00000392086.4_Intron	NM_006736.5	NP_006727.2	P25686	DNJB2_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 2	284					cell death (GO:0008219)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of inclusion body assembly (GO:0090084)|negative regulation of protein deubiquitination (GO:0090086)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein folding (GO:0006457)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|inclusion body (GO:0016234)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|unfolded protein binding (GO:0051082)			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14		Renal(207;0.0474)		Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACCGACGGCAGGGGCGGCCCA	0.662																																																0													17	19	18					2																	220149586		2199	4297	6496	SO:0001583	missense	3300				CCDS2439.1, CCDS46519.1	2q32-q34	2011-09-02			ENSG00000135924	ENSG00000135924		"Heat shock proteins / DNAJ (HSP40)"	5228	protein-coding gene	gene with protein product		604139		HSJ1		1599432, 10516435	Standard	NM_006736		Approved	HSPF3	uc002vkx.1	P25686	OTTHUMG00000133134	ENST00000336576.5:c.852G>T	2.37:g.220149586G>T	ENSP00000338019:p.Gln284His		A8K9P6|Q8IUK1|Q8IUK2|Q96F52	Missense_Mutation	SNP	ENST00000336576.5	37	CCDS2439.1	.	.	.	.	.	.	.	.	.	.	G	11.67	1.708121	0.30322	.	.	ENSG00000135924	ENST00000336576	T	0.61627	0.09	4.79	2.83	0.33086	.	7739.210000	0.00166	N	0.000000	T	0.46367	0.1389	N	0.19112	0.55	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17776	-1.0358	10	0.34782	T	0.22	.	9.4716	0.38847	0.0:0.1193:0.5069:0.3738	.	284	P25686	DNJB2_HUMAN	H	284	ENSP00000338019:Q284H	ENSP00000338019:Q284H	Q	+	3	2	DNAJB2	219857830	0.994000	0.37717	0.999000	0.59377	0.654000	0.38779	1.245000	0.32790	1.195000	0.43115	0.456000	0.33151	CAG		0.662	DNAJB2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256823.2			T	220149586	G	T	220149586	3	4	729	1	0	0	0	0	1	0	0	0	4622	991	35	4	882	4	DNAJB2	2	220149586	Missense_Mutation	SNP	G	TCGA-KN-8423-01A-11D-2310-10	76431308	220149586	23049787	5	40973											
DAZL	1618	broad.mit.edu	37	3	16638275	16638275	+	Silent	SNP	A	A	G			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr3:16638275A>G	ENST00000399444.2	-	6	773	c.480T>C	c.(478-480)ccT>ccC	p.P160P	DAZL_ENST00000250863.8_Silent_p.P180P	NM_001351.3	NP_001342.2	Q92904	DAZL_HUMAN	deleted in azoospermia-like	160					female meiosis II (GO:0007147)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|oocyte maturation (GO:0001556)|positive regulation of meiosis (GO:0045836)|positive regulation of translational initiation (GO:0045948)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|translation activator activity (GO:0008494)		RAF1/DAZL(2)	endometrium(1)|large_intestine(3)|lung(4)|prostate(3)	11						ACTGAGTTATAGGATTCATCG	0.383																																																0													189	184	186					3																	16638275		2052	4207	6259	SO:0001819	synonymous_variant	1618			BC027595	CCDS43059.1, CCDS54556.1	3p24	2013-02-12			ENSG00000092345	ENSG00000092345		"RNA binding motif (RRM) containing"	2685	protein-coding gene	gene with protein product		601486		DAZLA		8896558	Standard	NM_001351		Approved	DAZH, SPGYLA, MGC26406, DAZL1	uc003cbb.3	Q92904	OTTHUMG00000157050	ENST00000399444.2:c.480T>C	3.37:g.16638275A>G			O15396|Q5HYB4|Q92909	Silent	SNP	ENST00000399444.2	37	CCDS43059.1																																																																																				0.383	DAZL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347261.2	NM_001351		G	16638275	A	G	16638275	2	3	729	1	0	0	0	0	0	0	0	1	4248	407	15	3		3	DAZL	3	16638275	Silent	SNP	A	TCGA-KN-8423-01A-11D-2310-10		16638275	181384155	6	40974											
LEKR1	389170	broad.mit.edu	37	3	156745919	156745919	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr3:156745919A>G	ENST00000470811.1	+	13	1819	c.484A>G	c.(484-486)Aga>Gga	p.R162G	LEKR1_ENST00000356539.4_Missense_Mutation_p.R466G			Q6ZMV7	LEKR1_HUMAN	leucine, glutamate and lysine rich 1	162										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			AGGCGCTACAAGAGATCTAAG	0.343																																																0													55	58	57					3																	156745919		2203	4300	6503	SO:0001583	missense	389170			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.484A>G	3.37:g.156745919A>G	ENSP00000418214:p.Arg162Gly			Missense_Mutation	SNP	ENST00000470811.1	37		.	.	.	.	.	.	.	.	.	.	A	11.02	1.515270	0.27123	.	.	ENSG00000178110	ENST00000470811;ENST00000356539	T;T	0.44881	0.91;0.91	5.48	2.93	0.34026	.	0.575833	0.16682	N	0.203903	T	0.31575	0.0801	L	0.51422	1.61	0.22819	N	0.998697	B	0.34015	0.435	B	0.30495	0.116	T	0.11941	-1.0567	10	0.27785	T	0.31	-5.3815	7.0189	0.24902	0.5714:0.2895:0.0:0.1392	.	162	Q6ZMV7	LEKR1_HUMAN	G	162;466	ENSP00000418214:R162G;ENSP00000348936:R466G	ENSP00000348936:R466G	R	+	1	2	LEKR1	158228613	0.055000	0.20627	0.992000	0.48379	0.984000	0.73092	0.717000	0.25851	0.883000	0.36040	0.533000	0.62120	AGA		0.343	LEKR1-010	KNOWN	upstream_ATG|basic	protein_coding	protein_coding	OTTHUMT00000351625.3	NM_001004316		G	156745919	A	G	156745919	3	3	729	1	0	0	0	0	1	0	0	0	8719	64	3	3	1438	3	LEKR1	3	156745919	Missense_Mutation	SNP	A	TCGA-KN-8423-01A-11D-2310-10	140107644	156745919	41276511	7	40975											
HTT	3064	broad.mit.edu	37	4	3234985	3234985	+	Silent	SNP	C	C	G			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr4:3234985C>G	ENST00000355072.5	+	61	8506	c.8361C>G	c.(8359-8361)ctC>ctG	p.L2787L	HTT_ENST00000513806.1_Intron	NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	2787					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)		ACGGCGTCCTCTATGTGCTGG	0.642																																																0													99	111	107					4																	3234985		2121	4228	6349	SO:0001819	synonymous_variant	3064			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.8361C>G	4.37:g.3234985C>G			Q9UQB7	Silent	SNP	ENST00000355072.5	37	CCDS43206.1																																																																																				0.642	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		G	3234985	C	G	3234985	2	3	729	1	0	0	0	0	0	0	0	1	7459	900	32	4		4	HTT	4	3234985	Silent	SNP	C	TCGA-KN-8423-01A-11D-2310-10		3234985	187919291	8	40976											
DSPP	1834	mdanderson.org	37	4	88536448	88536448	+	Silent	SNP	C	C	T	rs111205175		TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr4:88536448C>T	ENST00000282478.7	+	4	2667	c.2634C>T	c.(2632-2634)gaC>gaT	p.D878D	DSPP_ENST00000399271.1_Silent_p.D878D|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	878	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		acagcagtgacagcagtgata	0.498																																																0													70	84	79					4																	88536448		1633	2930	4563	SO:0001819	synonymous_variant	1834			AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.2634C>T	4.37:g.88536448C>T			A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	CCDS43248.1																																																																																				0.498	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		T	88536448	C	T	88536448	2	4	729	1	0	0	0	0	0	0	0	1	4784	477	17	2		2	DSPP	4	88536448	Silent	SNP	C	TCGA-KN-8423-01A-11D-2310-10	85301463	88536448	102617828	9	40977	369	4									
DSPP	1834	mdanderson.org	37	4	88536451	88536451	+	Silent	SNP	C	C	T	rs111205176|rs149201255		TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr4:88536451C>T	ENST00000282478.7	+	4	2670	c.2637C>T	c.(2635-2637)agC>agT	p.S879S	DSPP_ENST00000399271.1_Silent_p.S879S|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	879	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		gcagtgacagcagtgatagca	0.493																																																0													71	84	80					4																	88536451		1629	2928	4557	SO:0001819	synonymous_variant	1834			AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.2637C>T	4.37:g.88536451C>T			A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	CCDS43248.1																																																																																				0.493	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		T	88536451	C	T	88536451	2	4	729	1	0	0	0	0	0	0	0	1	4784	709	25	2		2	DSPP	4	88536451	Silent	SNP	C	TCGA-KN-8423-01A-11D-2310-10	3	88536451	102617825	10	40978	369	4									
DSPP	1834	mdanderson.org	37	4	88536457	88536457	+	Silent	SNP	T	T	C	rs141186173|rs111205177|rs199994008	byFrequency	TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr4:88536457T>C	ENST00000282478.7	+	4	2676	c.2643T>C	c.(2641-2643)gaT>gaC	p.D881D	DSPP_ENST00000399271.1_Silent_p.D881D|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	881	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)	p.D881_S882insSSD(1)		breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		acagcagtgatagcagtgaca	0.498																																																1	Insertion - In frame(1)	ovary(1)											73	87	82					4																	88536457		1618	2922	4540	SO:0001819	synonymous_variant	1834			AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.2643T>C	4.37:g.88536457T>C			A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	CCDS43248.1																																																																																				0.498	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		C	88536457	T	C	88536457	2	2	729	1	0	0	0	0	0	0	0	1	4784	1403	49	3		3	DSPP	4	88536457	Silent	SNP	T	TCGA-KN-8423-01A-11D-2310-10	6	88536457	102617819	11	40979	369	4									
DSPP	1834	mdanderson.org	37	4	88536460	88536460	+	Silent	SNP	C	C	T	rs199691318		TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr4:88536460C>T	ENST00000282478.7	+	4	2679	c.2646C>T	c.(2644-2646)agC>agT	p.S882S	DSPP_ENST00000399271.1_Silent_p.S882S|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	882	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		gcagtgatagcagtgacagca	0.498																																																0													73	87	82					4																	88536460		1617	2929	4546	SO:0001819	synonymous_variant	1834			AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.2646C>T	4.37:g.88536460C>T			A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	CCDS43248.1																																																																																				0.498	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		T	88536460	C	T	88536460	2	4	729	1	0	0	0	0	0	0	0	1	4784	709	25	2		2	DSPP	4	88536460	Silent	SNP	C	TCGA-KN-8423-01A-11D-2310-10	3	88536460	102617816	12	40980	369	4									
UGT3A1	133688	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	5	35957478	35957478	+	Missense_Mutation	SNP	A	A	T			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr5:35957478A>T	ENST00000274278.3	-	5	1244	c.887T>A	c.(886-888)gTc>gAc	p.V296D	UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000507113.1_Missense_Mutation_p.V262D|UGT3A1_ENST00000503189.1_Missense_Mutation_p.V296D	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	296						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGCCACAAGGACAAACCCTGC	0.493																																																0													95	83	87					5																	35957478		2203	4300	6503	SO:0001583	missense	133688				CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626		"UDP glucuronosyltransferases"	26625	protein-coding gene	gene with protein product							Standard	NM_152404		Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.887T>A	5.37:g.35957478A>T	ENSP00000274278:p.Val296Asp		G5E961|Q8IYS9|Q8NAW4|Q96DM6	Missense_Mutation	SNP	ENST00000274278.3	37	CCDS3913.1	.	.	.	.	.	.	.	.	.	.	.	13.85	2.360365	0.41801	.	.	ENSG00000145626	ENST00000274278;ENST00000503189;ENST00000507113	T;T;T	0.72725	-0.68;-0.68;-0.68	3.28	3.28	0.37604	.	0.632758	0.14275	N	0.329919	D	0.87621	0.6223	H	0.95402	3.665	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.996	D;D;D	0.76071	0.981;0.98;0.987	D	0.88995	0.3417	10	0.87932	D	0	.	11.2924	0.49258	1.0:0.0:0.0:0.0	.	262;296;296	E9PD17;B7Z8Q8;Q6NUS8	.;.;UD3A1_HUMAN	D	296;296;262	ENSP00000274278:V296D;ENSP00000427079:V296D;ENSP00000426100:V262D	ENSP00000274278:V296D	V	-	2	0	UGT3A1	35993235	0.878000	0.30173	0.994000	0.49952	0.137000	0.21094	4.441000	0.59981	1.431000	0.47355	0.383000	0.25322	GTC		0.493	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	NM_152404		T	35957478	A	T	35957478	3	4	729	1	0	0	0	0	1	0	0	0	16968	275	10	5	696	5	UGT3A1	5	35957478	Missense_Mutation	SNP	A	TCGA-KN-8423-01A-11D-2310-10		35957478	144957782	13	40981											
RASGRF2	5924	broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	80504195	80504195	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr5:80504195A>G	ENST00000265080.4	+	22	3161	c.3094A>G	c.(3094-3096)Atg>Gtg	p.M1032V	CKMT2-AS1_ENST00000511495.1_RNA|CKMT2-AS1_ENST00000503483.2_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	1032	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				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)		GCAGGGGTGGATGAAGCTGGA	0.413																																																0													72	69	70					5																	80504195		2203	4300	6503	SO:0001583	missense	5924			AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.3094A>G	5.37:g.80504195A>G	ENSP00000265080:p.Met1032Val		B9EG89|Q9UK56	Missense_Mutation	SNP	ENST00000265080.4	37	CCDS4052.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.131835	0.77662	.	.	ENSG00000113319	ENST00000265080	T	0.29397	1.57	5.67	5.67	0.87782	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.102022	0.85682	D	0.000000	T	0.49081	0.1536	L	0.50919	1.6	0.58432	D	0.999999	P	0.50369	0.934	D	0.63488	0.915	T	0.44862	-0.9300	10	0.56958	D	0.05	.	15.5751	0.76373	1.0:0.0:0.0:0.0	.	1032	O14827	RGRF2_HUMAN	V	1032	ENSP00000265080:M1032V	ENSP00000265080:M1032V	M	+	1	0	RASGRF2	80539951	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	9.233000	0.95337	2.161000	0.67846	0.528000	0.53228	ATG		0.413	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909		G	80504195	A	G	80504195	3	3	729	1	0	0	0	0	1	0	0	0	13079	333	12	3	3180	3	RASGRF2	5	80504195	Missense_Mutation	SNP	A	TCGA-KN-8423-01A-11D-2310-10	44546717	80504195	100411065	14	40982											
HNRNPA0	10949	ucsc.edu;bcgsc.ca	37	5	137089608	137089608	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr5:137089608A>G	ENST00000314940.4	-	1	431	c.148T>C	c.(148-150)Ttt>Ctt	p.F50L		NM_006805.3	NP_006796.1	Q13151	ROA0_HUMAN	heterogeneous nuclear ribonucleoprotein A0	50	RRM 1. {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)			ACGAAGCCAAAGCAACGGGAG	0.657																																																0													51	52	52					5																	137089608		2203	4300	6503	SO:0001583	missense	10949			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.148T>C	5.37:g.137089608A>G	ENSP00000316042:p.Phe50Leu		Q6IB18	Missense_Mutation	SNP	ENST00000314940.4	37	CCDS4193.1	.	.	.	.	.	.	.	.	.	.	A	35	5.486893	0.96323	.	.	ENSG00000177733	ENST00000314940	T	0.09350	2.99	4.93	4.93	0.64822	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	U	0.000000	T	0.41373	0.1156	M	0.91140	3.18	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.54132	-0.8339	10	0.87932	D	0	.	14.5742	0.68235	1.0:0.0:0.0:0.0	.	50	Q13151	ROA0_HUMAN	L	50	ENSP00000316042:F50L	ENSP00000316042:F50L	F	-	1	0	HNRNPA0	137117507	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.261000	0.95576	1.853000	0.53794	0.374000	0.22700	TTT		0.657	HNRNPA0-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251221.1	NM_006805		G	137089608	A	G	137089608	3	3	729	1	0	0	0	0	1	0	0	0	7258	72	3	3	773	3	HNRNPA0	5	137089608	Missense_Mutation	SNP	A	TCGA-KN-8423-01A-11D-2310-10	56585413	137089608	43825652	15	40983											
HAVCR1	26762	ucsc.edu	37	5	156479568	156479568	+	Silent	SNP	C	C	T	rs386693994|rs139041445|rs6149307|rs10068551|rs141023871|rs77147640	byFrequency	TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr5:156479568C>T	ENST00000339252.3	-	3	1009	c.477G>A	c.(475-477)acG>acA	p.T159T	HAVCR1_ENST00000522693.1_Silent_p.T159T|HAVCR1_ENST00000425854.1_Silent_p.T159T|HAVCR1_ENST00000544197.1_Silent_p.T159T|HAVCR1_ENST00000523175.1_Silent_p.T159T	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	0	11 X 6 AA approximate tandem repeats of V-P-T-T-T-T].|Thr-rich.				viral process (GO:0016032)	integral component of membrane (GO:0016021)	virus receptor activity (GO:0001618)	p.T160_V161insT(1)		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)			TTGGAACAGTCGTCATTGGAA	0.488														70	0.0139776	0.0499	0.0058	5008	,	,		22483	0.0		0.0	False		,,,				2504	0.0															1	Insertion - In frame(1)	ovary(1)											463	356	392					5																	156479568		2125	4230	6355	SO:0001819	synonymous_variant	26762			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.477G>A	5.37:g.156479568C>T			O43656	Silent	SNP	ENST00000339252.3	37	CCDS43392.1																																																																																				0.488	HAVCR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373698.1			T	156479568	C	T	156479568	2	4	729	1	0	0	0	0	0	0	0	1	6975	871	31	1		1	HAVCR1	5	156479568	Silent	SNP	C	TCGA-KN-8423-01A-11D-2310-10	19389960	156479568	24435692	16	40984											
HLA-DRB1	3123	mdanderson.org	37	6	32549587	32549587	+	Silent	SNP	T	T	G	rs2308761	byFrequency	TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr6:32549587T>G	ENST00000360004.5	-	3	504	c.399A>C	c.(397-399)tcA>tcC	p.S133S		NM_002124.3	NP_002115.2	Q30167	2B1A_HUMAN	major histocompatibility complex, class II, DR beta 1	133	Beta-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)|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)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						GCTGGGTCTTTGAAGGATATA	0.512										Multiple Myeloma(14;0.17)																																						0													59	74	69					6																	32549587		1510	2709	4219	SO:0001819	synonymous_variant	3123			AJ297583	CCDS47409.1	6p21.3	2013-01-11			ENSG00000196126	ENSG00000196126		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4948	protein-coding gene	gene with protein product		142857		HLA-DR1B			Standard	NM_001243965		Approved		uc011eri.2	P01911	OTTHUMG00000031196	ENST00000360004.5:c.399A>C	6.37:g.32549587T>G			P01914|Q9MYF5	Silent	SNP	ENST00000360004.5	37	CCDS47409.1																																																																																				0.512	HLA-DRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076393.3	NM_002124		G	32549587	T	G	32549587	2	3	729	1	0	0	0	0	0	0	0	1	7210	1799	63	5		5	HLA-DRB1	6	32549587	Silent	SNP	T	TCGA-KN-8423-01A-11D-2310-10		32549587	138565480	17	40985											
HERPUD2	64224	ucsc.edu	37	7	35678074	35678074	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr7:35678074T>C	ENST00000396081.1	-	5	1307	c.503A>G	c.(502-504)gAc>gGc	p.D168G	HERPUD2_ENST00000311350.3_Missense_Mutation_p.D168G|HERPUD2_ENST00000426180.1_5'UTR	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	168					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						AAATTGGTTGTCTACATTTCT	0.418																																																0													63	61	61					7																	35678074		2203	4300	6503	SO:0001583	missense	64224			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.503A>G	7.37:g.35678074T>C	ENSP00000379390:p.Asp168Gly		A4D1Y8|Q9H6F9	Missense_Mutation	SNP	ENST00000396081.1	37	CCDS5446.1	.	.	.	.	.	.	.	.	.	.	T	8.314	0.822852	0.16678	.	.	ENSG00000122557	ENST00000396081;ENST00000311350;ENST00000438224;ENST00000413517	T;T;T;T	0.28666	2.79;2.79;1.6;1.98	5.04	3.71	0.42584	.	0.554792	0.20697	N	0.087357	T	0.07007	0.0178	N	0.00729	-1.24	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23940	-1.0174	10	0.19147	T	0.46	-10.5907	1.6233	0.02718	0.2894:0.2009:0.0:0.5097	.	168	Q9BSE4	HERP2_HUMAN	G	168;168;104;142	ENSP00000379390:D168G;ENSP00000310729:D168G;ENSP00000415475:D104G;ENSP00000391015:D142G	ENSP00000310729:D168G	D	-	2	0	HERPUD2	35644599	0.563000	0.26594	0.709000	0.30452	0.988000	0.76386	2.230000	0.42999	2.008000	0.58898	0.533000	0.62120	GAC		0.418	HERPUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250584.1	NM_022373		C	35678074	T	C	35678074	3	2	729	1	0	0	0	0	1	0	0	0	7066	1667	58	3	733	3	HERPUD2	7	35678074	Missense_Mutation	SNP	T	TCGA-KN-8423-01A-11D-2310-10		35678074	123460589	18	40986											
UPP1	7378	broad.mit.edu;hgsc.bcm.edu	37	7	48147910	48147911	+	Frame_Shift_Ins	INS	-	-	GGCT			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr7:48147910_48147911insGGCT	ENST00000331803.4	+	10	1512_1513	c.889_890insGGCT	c.(889-891)cggfs	p.-298fs	UPP1_ENST00000482015.1_3'UTR|UPP1_ENST00000341253.4_Frame_Shift_Ins_p.-298fs|UPP1_ENST00000429491.2_Frame_Shift_Ins_p.-161fs|UPP1_ENST00000395564.4_Frame_Shift_Ins_p.-298fs			Q16831	UPP1_HUMAN	uridine phosphorylase 1						cellular response to glucose starvation (GO:0042149)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide catabolic process (GO:0009166)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)|uridine metabolic process (GO:0046108)	cytosol (GO:0005829)	uridine phosphorylase activity (GO:0004850)	p.R297Q(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18					Fluorouracil(DB00544)	GAGGCCGCAGCGGCTGGTGAGC	0.594																																																1	Substitution - Missense(1)	breast(1)																																								SO:0001589	frameshift_variant	7378			AK096167	CCDS5507.1	7p12.3	2012-10-02	2003-08-28	2003-08-29	ENSG00000183696	ENSG00000183696	2.4.2.3		12576	protein-coding gene	gene with protein product		191730	"uridine phosphorylase"	UP		752472, 11807789	Standard	NM_003364		Approved	UPASE, UPP, UDRPASE	uc003toj.3	Q16831	OTTHUMG00000129253	ENST00000331803.4:c.890_893dupGGCT	7.37:g.48147911_48147914dupGGCT	ENSP00000330032:p.Leu298fs		D3DVM4|Q15362	Frame_Shift_Ins	INS	ENST00000331803.4	37	CCDS5507.1																																																																																				0.594	UPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251360.1	NM_003364		GGCT	48147911	-	GGCT	48147910	7	5	729	1	0	1	1	0	0	0	0	0	17017	759	27	0	915	0	UPP1	7	48147910	Frame_Shift_Ins	INS	-	TCGA-KN-8423-01A-11D-2310-10	12469836	48147910	110990753	19	40987	370	2									
UPP1	7378	bcgsc.ca	37	7	48147911	48147912	+	Frame_Shift_Ins	INS	-	-	GGCT			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr7:48147911_48147912insGGCT	ENST00000331803.4	+	10	1513_1514	c.890_891insGGCT	c.(889-894)cggctgfs	p.L298fs	UPP1_ENST00000482015.1_3'UTR|UPP1_ENST00000341253.4_Frame_Shift_Ins_p.L298fs|UPP1_ENST00000429491.2_Frame_Shift_Ins_p.L161fs|UPP1_ENST00000395564.4_Frame_Shift_Ins_p.L298fs			Q16831	UPP1_HUMAN	uridine phosphorylase 1	298					cellular response to glucose starvation (GO:0042149)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide catabolic process (GO:0009166)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)|uridine metabolic process (GO:0046108)	cytosol (GO:0005829)	uridine phosphorylase activity (GO:0004850)	p.R297Q(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18					Fluorouracil(DB00544)	AGGCCGCAGCGGCTGGTGAGCT	0.599																																																1	Substitution - Missense(1)	breast(1)																																								SO:0001589	frameshift_variant	7378			AK096167	CCDS5507.1	7p12.3	2012-10-02	2003-08-28	2003-08-29	ENSG00000183696	ENSG00000183696	2.4.2.3		12576	protein-coding gene	gene with protein product		191730	"uridine phosphorylase"	UP		752472, 11807789	Standard	NM_003364		Approved	UPASE, UPP, UDRPASE	uc003toj.3	Q16831	OTTHUMG00000129253	Exception_encountered	7.37:g.48147911_48147912insGGCT	ENSP00000330032:p.Leu298fs		D3DVM4|Q15362	Frame_Shift_Ins	INS	ENST00000331803.4	37	CCDS5507.1																																																																																				0.599	UPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251360.1	NM_003364		GGCT	48147912	-	GGCT	48147911	7	5	729	1	0	1	1	0	0	0	0	0	17017	1116	39	0	916	0	UPP1	7	48147911	Frame_Shift_Ins	INS	-	TCGA-KN-8423-01A-11D-2310-10	1	48147911	110990752	20	40988	370	2									
IQUB	154865	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	7	123119977	123119977	+	Missense_Mutation	SNP	C	C	G			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr7:123119977C>G	ENST00000466202.1	-	8	1858	c.1282G>C	c.(1282-1284)Gct>Cct	p.A428P	IQUB_ENST00000324698.6_Missense_Mutation_p.A428P|IQUB_ENST00000434450.1_Missense_Mutation_p.A428P	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	428					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TTCCTTTCAGCTCCAGTAAAA	0.383																																																0													111	101	104					7																	123119977		2203	4299	6502	SO:0001583	missense	154865			AK093153	CCDS5787.1	7q31.32	2010-03-19			ENSG00000164675	ENSG00000164675			21995	protein-coding gene	gene with protein product							Standard	NM_178827		Approved	FLJ35834	uc003vko.3	Q8NA54	OTTHUMG00000157347	ENST00000466202.1:c.1282G>C	7.37:g.123119977C>G	ENSP00000417769:p.Ala428Pro		A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Missense_Mutation	SNP	ENST00000466202.1	37	CCDS5787.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.301776	0.81136	.	.	ENSG00000164675	ENST00000466202;ENST00000324698;ENST00000434450	T;T;T	0.50548	1.75;1.75;0.74	5.73	5.73	0.89815	.	0.048468	0.85682	D	0.000000	T	0.46908	0.1417	L	0.31752	0.955	0.53688	D	0.99997	P;P	0.47762	0.9;0.84	P;B	0.46940	0.532;0.405	T	0.38499	-0.9658	10	0.45353	T	0.12	.	19.4877	0.95037	0.0:1.0:0.0:0.0	.	428;428	Q8NA54-2;Q8NA54	.;IQUB_HUMAN	P	428	ENSP00000417769:A428P;ENSP00000324882:A428P;ENSP00000388498:A428P	ENSP00000324882:A428P	A	-	1	0	IQUB	122907213	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	3.219000	0.51200	2.709000	0.92574	0.563000	0.77884	GCT		0.383	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348529.1	NM_178827		G	123119977	C	G	123119977	3	3	729	1	0	0	0	0	1	0	0	0	7822	797	28	4	1117	4	IQUB	7	123119977	Missense_Mutation	SNP	C	TCGA-KN-8423-01A-11D-2310-10	74972066	123119977	36018686	21	40989											
NOBOX	135935	bcgsc.ca	37	7	144096937	144096937	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr7:144096937C>T	ENST00000467773.1	-	6	1066	c.1067G>A	c.(1066-1068)cGg>cAg	p.R356Q	NOBOX_ENST00000483238.1_Missense_Mutation_p.R324Q|NOBOX_ENST00000223140.5_Missense_Mutation_p.R239Q	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	356					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)					CCACTTGGCCCGGCGATTCTG	0.542																																																0													78	82	80					7																	144096937		1955	4150	6105	SO:0001583	missense	135935					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.1067G>A	7.37:g.144096937C>T	ENSP00000419457:p.Arg356Gln		A6NCD3|A8MZN5	Missense_Mutation	SNP	ENST00000467773.1	37		.	.	.	.	.	.	.	.	.	.	C	24.6	4.544899	0.86022	.	.	ENSG00000106410	ENST00000483238;ENST00000467773;ENST00000223140;ENST00000555556	D;D;D	0.99298	-5.48;-5.71;-5.48	5.55	4.67	0.58626	Homeodomain-related (1);Homeobox (2);	0.324668	0.29987	N	0.010695	D	0.99510	0.9825	M	0.93241	3.395	0.32825	D	0.503226	D	0.89917	1.0	D	0.91635	0.999	D	0.98597	1.0657	10	0.87932	D	0	-35.0972	12.3015	0.54876	0.0:0.918:0.0:0.082	.	356	O60393	NOBOX_HUMAN	Q	324;356;239;113	ENSP00000419565:R324Q;ENSP00000419457:R356Q;ENSP00000223140:R239Q	ENSP00000223140:R239Q	R	-	2	0	NOBOX	143727870	1.000000	0.71417	0.990000	0.47175	0.993000	0.82548	5.277000	0.65586	1.352000	0.45808	0.650000	0.86243	CGG		0.542	NOBOX-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000350095.1	XM_001134420		T	144096937	C	T	144096937	3	4	729	1	0	0	0	0	1	0	0	0	10514	652	23	1	1028	1	NOBOX	7	144096937	Missense_Mutation	SNP	C	TCGA-KN-8423-01A-11D-2310-10	20976960	144096937	15041726	22	40990											
PCMTD1	115294	bcgsc.ca	37	8	52733143	52733143	+	Missense_Mutation	SNP	A	A	G	rs111785933		TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr8:52733143A>G	ENST00000360540.5	-	7	1248	c.842T>C	c.(841-843)gTt>gCt	p.V281A	PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000522514.1_Missense_Mutation_p.V281A|PCMTD1_ENST00000544451.1_Missense_Mutation_p.V205A	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	281						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)				TCTCTGTTTAACTCTCTTTCT	0.393																																																0													172	174	174					8																	52733143		2203	4300	6503	SO:0001583	missense	115294				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.842T>C	8.37:g.52733143A>G	ENSP00000353739:p.Val281Ala		Q96FK9	Missense_Mutation	SNP	ENST00000360540.5	37	CCDS6148.1	.	.	.	.	.	.	.	.	.	.	A	4.043	0.005592	0.07866	.	.	ENSG00000168300	ENST00000360540;ENST00000544451;ENST00000522514	T;T;T	0.46063	0.88;0.88;0.88	5.97	4.75	0.60458	.	0.260164	0.36972	N	0.002316	T	0.32556	0.0833	L	0.42245	1.32	0.29355	N	0.865105	B;B;B	0.18863	0.009;0.008;0.031	B;B;B	0.18263	0.015;0.005;0.021	T	0.15780	-1.0425	10	0.15066	T	0.55	-33.7683	11.4736	0.50284	0.6809:0.3191:0.0:0.0	.	151;205;281	B4E2B4;F5H1M8;Q96MG8	.;.;PCMD1_HUMAN	A	281;205;281	ENSP00000353739:V281A;ENSP00000444026:V205A;ENSP00000428099:V281A	ENSP00000353739:V281A	V	-	2	0	PCMTD1	52895696	1.000000	0.71417	0.992000	0.48379	0.981000	0.71138	5.794000	0.69067	2.281000	0.76405	0.533000	0.62120	GTT		0.393	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2	NM_052937		G	52733143	A	G	52733143	3	3	729	1	0	0	0	0	1	0	0	0	11588	43	2	3	235	3	PCMTD1	8	52733143	Missense_Mutation	SNP	A	TCGA-KN-8423-01A-11D-2310-10		52733143	93630879	23	40991											
EYA1	2138	broad.mit.edu	37	8	72129213	72129213	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr8:72129213C>T	ENST00000340726.3	-	13	1825	c.1186G>A	c.(1186-1188)Gga>Aga	p.G396R	EYA1_ENST00000388740.3_Missense_Mutation_p.G363R|EYA1_ENST00000388742.4_Missense_Mutation_p.G396R|EYA1_ENST00000303824.7_Missense_Mutation_p.G390R|EYA1_ENST00000419131.1_Missense_Mutation_p.G361R|EYA1_ENST00000388741.2_Missense_Mutation_p.G362R|EYA1_ENST00000388743.2_Missense_Mutation_p.G395R	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	396					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)			AGGTCCTGTCCGTTATCATCT	0.338																																																0													137	129	132					8																	72129213		2203	4300	6503	SO:0001583	missense	2138			AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"Protein tyrosine phosphatases / Asp-based PTPs"	3519	protein-coding gene	gene with protein product		601653	"eyes absent (Drosophila) homolog 1", "eyes absent homolog 1 (Drosophila)"	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.1186G>A	8.37:g.72129213C>T	ENSP00000342626:p.Gly396Arg		A6NHQ0|G5E9R4|Q0P516|Q8WX80	Missense_Mutation	SNP	ENST00000340726.3	37	CCDS34906.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.418716	0.83559	.	.	ENSG00000104313	ENST00000388742;ENST00000340726;ENST00000388744;ENST00000388740;ENST00000303824;ENST00000388741;ENST00000388743;ENST00000419131	D;D;D;D;D;D;D	0.91351	-1.53;-1.53;-1.53;-1.53;-1.53;-1.53;-2.83	5.34	5.34	0.76211	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.000000	0.85682	D	0.000000	D	0.95114	0.8417	M	0.72118	2.19	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;0.985;0.989;0.998;0.998	D	0.95168	0.8287	10	0.87932	D	0	-13.6874	19.2408	0.93881	0.0:1.0:0.0:0.0	.	390;323;363;396;361	A6NCB9;Q0P517;Q99502-2;Q99502;G5E9R4	.;.;.;EYA1_HUMAN;.	R	396;396;364;363;390;362;395;361	ENSP00000373394:G396R;ENSP00000342626:G396R;ENSP00000373392:G363R;ENSP00000303221:G390R;ENSP00000373393:G362R;ENSP00000373395:G395R;ENSP00000410176:G361R	ENSP00000303221:G390R	G	-	1	0	EYA1	72291767	1.000000	0.71417	0.951000	0.38953	0.912000	0.54170	7.516000	0.81772	2.785000	0.95823	0.655000	0.94253	GGA		0.338	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313788.2	NM_000503, NM_172060		T	72129213	C	T	72129213	3	4	729	1	0	0	0	0	1	0	0	0	5330	661	23	1	616	1	EYA1	8	72129213	Missense_Mutation	SNP	C	TCGA-KN-8423-01A-11D-2310-10	19396070	72129213	74234809	24	40992											
C9orf150	286343	mdanderson.org	37	9	12775889	12775889	+	Missense_Mutation	SNP	A	A	G	rs3750501	byFrequency	TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr9:12775889A>G	ENST00000319264.3	+	1	870	c.175A>G	c.(175-177)Agc>Ggc	p.S59G	LURAP1L_ENST00000489107.1_3'UTR|RP11-3L8.3_ENST00000417638.1_RNA	NM_203403.1	NP_981948.1	Q8IV03	LUR1L_HUMAN	leucine rich adaptor protein 1-like	62	Gly-rich.																ctgcagtagcagcagcagcTA	0.697													A|||	3412	0.68131	0.4947	0.8372	5008	,	,		10003	0.7679		0.8241	False		,,,				2504	0.5869															0													6	5	5					9																	12775889		1946	3629	5575	SO:0001583	missense	286343			AK095824	CCDS6473.1	9p22.3	2012-02-01	2012-02-01	2012-02-01	ENSG00000153714	ENSG00000153714			31452	protein-coding gene	gene with protein product	"similar to DNA segment, Chr 4, Brigham & Womens Genetics 0951 expressed"		"chromosome 9 open reading frame 150"	C9orf150		12766061	Standard	NM_203403		Approved	MGC46502, FLJ38505, bA3L8.2	uc003zkw.3	Q8IV03	OTTHUMG00000019557	ENST00000319264.3:c.175A>G	9.37:g.12775889A>G	ENSP00000321026:p.Ser59Gly		Q5VZX7|Q8N923|Q8NCG2	Missense_Mutation	SNP	ENST00000319264.3	37	CCDS6473.1	1604	0.7344322344322345	244	0.4959349593495935	298	0.8232044198895028	440	0.7692307692307693	622	0.820580474934037	A	10.39	1.336728	0.24253	.	.	ENSG00000153714	ENST00000319264	T	0.48522	0.81	5.19	1.22	0.21188	.	1.487020	0.03885	N	0.277674	T	0.00012	0.0000	N	0.22421	0.69	0.44117	P	0.003106000000000053	B	0.09022	0.002	B	0.09377	0.004	T	0.38156	-0.9674	9	0.12430	T	0.62	.	4.2654	0.10761	0.5757:0.1693:0.255:0.0	rs3750501	62	Q8IV03	CI150_HUMAN	G	59	ENSP00000321026:S59G	ENSP00000321026:S59G	S	+	1	0	C9orf150	12765889	0.840000	0.29493	0.997000	0.53966	0.601000	0.36947	1.087000	0.30865	0.824000	0.34613	-0.381000	0.06696	AGC		0.697	LURAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051730.1	NM_203403		G	12775889	A	G	12775889	3	3	729	1	0	0	0	0	1	0	0	0	2464	188	7	3	177	3	C9orf150	9	12775889	Missense_Mutation	SNP	A	TCGA-KN-8423-01A-11D-2310-10		12775889	128437542	25	40993											
SYK	6850	bcgsc.ca	37	9	93650875	93650875	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr9:93650875A>G	ENST00000375754.4	+	13	1949	c.1801A>G	c.(1801-1803)Atg>Gtg	p.M601V	SYK_ENST00000375751.4_Missense_Mutation_p.M578V|SYK_ENST00000375747.1_Missense_Mutation_p.M578V|SYK_ENST00000375746.1_Missense_Mutation_p.M601V	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	601	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|B cell receptor signaling pathway (GO:0050853)|beta selection (GO:0043366)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|cell proliferation (GO:0008283)|cellular response to molecule of fungal origin (GO:0071226)|defense response to bacterium (GO:0042742)|enzyme linked receptor protein signaling pathway (GO:0007167)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte activation involved in immune response (GO:0002366)|leukocyte cell-cell adhesion (GO:0007159)|leukotriene biosynthetic process (GO:0019370)|lymph vessel development (GO:0001945)|macrophage activation involved in immune response (GO:0002281)|neutrophil activation involved in immune response (GO:0002283)|neutrophil chemotaxis (GO:0030593)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of bone resorption (GO:0045780)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|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)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of arachidonic acid secretion (GO:0090237)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of neutrophil degranulation (GO:0043313)|regulation of phagocytosis (GO:0050764)|regulation of platelet activation (GO:0010543)|regulation of platelet aggregation (GO:0090330)|regulation of superoxide anion generation (GO:0032928)|serotonin secretion by platelet (GO:0002554)|viral process (GO:0016032)	B cell receptor complex (GO:0019815)|cytosol (GO:0005829)|early phagosome (GO:0032009)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|integrin binding (GO:0005178)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						TCCAAGAGAGATGTACGATCT	0.488			T	"ETV6, ITK"	"MDS, peripheral T-cell lymphoma"																																		Dom	yes		9	9q22	6850	spleen tyrosine kinase		L	0													126	102	110					9																	93650875		2203	4300	6503	SO:0001583	missense	6850			L28824	CCDS6688.1, CCDS47992.1	9q22	2013-02-14			ENSG00000165025	ENSG00000165025		"SH2 domain containing"	11491	protein-coding gene	gene with protein product		600085				8082894, 1423621	Standard	XM_005252147		Approved		uc004aqz.3	P43405	OTTHUMG00000020200	ENST00000375754.4:c.1801A>G	9.37:g.93650875A>G	ENSP00000364907:p.Met601Val			Missense_Mutation	SNP	ENST00000375754.4	37	CCDS6688.1	.	.	.	.	.	.	.	.	.	.	A	9.236	1.037182	0.19669	.	.	ENSG00000165025	ENST00000375754;ENST00000375751;ENST00000375747;ENST00000375746	T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41	5.22	4.08	0.47627	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.084773	0.85682	D	0.000000	T	0.49490	0.1560	N	0.01473	-0.845	0.58432	D	0.999994	B;B	0.13594	0.004;0.008	B;B	0.15870	0.008;0.014	T	0.49476	-0.8936	10	0.10111	T	0.7	.	6.6524	0.22969	0.8219:0.0:0.1781:0.0	.	578;601	P43405-2;P43405	.;KSYK_HUMAN	V	601;578;578;601	ENSP00000364907:M601V;ENSP00000364904:M578V;ENSP00000364899:M578V;ENSP00000364898:M601V	ENSP00000364898:M601V	M	+	1	0	SYK	92690696	1.000000	0.71417	1.000000	0.80357	0.705000	0.40729	2.699000	0.47077	2.082000	0.62665	0.455000	0.32223	ATG		0.488	SYK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053018.1			G	93650875	A	G	93650875	3	3	729	1	0	0	0	0	1	0	0	0	15443	333	12	3	1847	3	SYK	9	93650875	Missense_Mutation	SNP	A	TCGA-KN-8423-01A-11D-2310-10	80874986	93650875	47562556	26	40994											
RC3H2	54542	broad.mit.edu	37	9	125620200	125620200	+	Splice_Site	SNP	A	A	G			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr9:125620200A>G	ENST00000373670.1	-	12	3055		c.e12+1		RC3H2_ENST00000357244.2_Splice_Site|RC3H2_ENST00000423239.2_Splice_Site			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2						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						AACCTTTCTTACATCCGCACG	0.423																																																0													114	115	115					9																	125620200		1979	4148	6127	SO:0001630	splice_region_variant	54542			AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"RING-type (C3HC4) zinc fingers", "Zinc fingers, CCCH-type domain containing"	21461	protein-coding gene	gene with protein product		615231	"membrane associated DNA binding protein", "ring finger and CCCH-type zinc finger domains 2"	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.2454+1T>C	9.37:g.125620200A>G			Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Splice_Site	SNP	ENST00000373670.1	37	CCDS43874.1	.	.	.	.	.	.	.	.	.	.	A	17.09	3.301389	0.60195	.	.	ENSG00000056586	ENST00000373670;ENST00000357244;ENST00000373663;ENST00000423239	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8629	0.63571	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RC3H2	124660021	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.339000	0.72969	2.206000	0.71126	0.533000	0.62120	.		0.423	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053966.1	NM_018835	Intron	G	125620200	A	G	125620200	5	3	729	1	0	0	0	0	0	0	1	0	13173	405	14	3	1233	3	RC3H2	9	125620200	Splice_Site	SNP	A	TCGA-KN-8423-01A-11D-2310-10	31969325	125620200	15593231	27	40995											
NMT2	9397	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	10	15172216	15172216	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr10:15172216C>T	ENST00000378165.4	-	7	895	c.815G>A	c.(814-816)aGa>aAa	p.R272K	NMT2_ENST00000540259.1_Missense_Mutation_p.R84K|RPP38_ENST00000451677.1_Intron|NMT2_ENST00000378150.1_Missense_Mutation_p.R259K|NMT2_ENST00000535341.1_Missense_Mutation_p.R259K	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	272					intracellular transport of virus (GO:0075733)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						CAGGTTCACTCTTCTAGTGAT	0.468																																					Melanoma(117;1345 1645 4130 12688 30625)											0													119	111	114					10																	15172216		2203	4300	6503	SO:0001583	missense	9397			AF043325	CCDS7109.1	10p13	2006-07-11			ENSG00000152465	ENSG00000152465			7858	protein-coding gene	gene with protein product		603801				9506952	Standard	NM_004808		Approved		uc001inz.1	O60551	OTTHUMG00000017723	ENST00000378165.4:c.815G>A	10.37:g.15172216C>T	ENSP00000367407:p.Arg272Lys		B0YJ49|Q53Y38|Q5VUC8|Q9BRB4	Missense_Mutation	SNP	ENST00000378165.4	37	CCDS7109.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.193219	0.78902	.	.	ENSG00000152465	ENST00000378165;ENST00000378150;ENST00000378143;ENST00000540259;ENST00000535341	T	0.56611	0.45	5.57	5.57	0.84162	Acyl-CoA N-acyltransferase (2);Myristoyl-CoA:protein N-myristoyltransferase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.71204	0.3312	M	0.94142	3.5	0.80722	D	1	B;B;B	0.22211	0.066;0.021;0.066	B;B;B	0.32090	0.14;0.063;0.14	T	0.74160	-0.3755	10	0.87932	D	0	-25.6325	19.98	0.97322	0.0:1.0:0.0:0.0	.	272;259;272	B2RCF3;Q5VUC6;O60551	.;.;NMT2_HUMAN	K	272;259;303;84;259	ENSP00000367407:R272K	ENSP00000367385:R303K	R	-	2	0	NMT2	15212222	1.000000	0.71417	1.000000	0.80357	0.464000	0.32679	7.776000	0.85560	2.808000	0.96608	0.650000	0.86243	AGA		0.468	NMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046958.2	NM_004808		T	15172216	C	T	15172216	3	4	729	1	0	0	0	0	1	0	0	0	10506	913	32	2	705	2	NMT2	10	15172216	Missense_Mutation	SNP	C	TCGA-KN-8423-01A-11D-2310-10		15172216	120362531	28	40996											
FAM171A1	221061	bcgsc.ca	37	10	15254967	15254967	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr10:15254967T>C	ENST00000378116.4	-	8	2626	c.2620A>G	c.(2620-2622)Agc>Ggc	p.S874G	FAM171A1_ENST00000477161.1_5'Flank	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	874						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						TGCCAGGGGCTTTTCTTGTCT	0.527																																																0													145	143	144					10																	15254967		2203	4300	6503	SO:0001583	missense	221061			AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 38"	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.2620A>G	10.37:g.15254967T>C	ENSP00000367356:p.Ser874Gly		D3DRT9|Q32M49|Q8N4I0	Missense_Mutation	SNP	ENST00000378116.4	37	CCDS31154.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.045416	0.75846	.	.	ENSG00000148468	ENST00000378116;ENST00000396781	T	0.40225	1.04	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.64778	0.2629	M	0.76328	2.33	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.69221	-0.5202	10	0.72032	D	0.01	-27.741	15.0682	0.72014	0.0:0.0:0.0:1.0	.	874	Q5VUB5	F1711_HUMAN	G	874;873	ENSP00000367356:S874G	ENSP00000367356:S874G	S	-	1	0	FAM171A1	15294973	1.000000	0.71417	0.993000	0.49108	0.976000	0.68499	7.843000	0.86859	2.137000	0.66172	0.460000	0.39030	AGC		0.527	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1	XM_167709		C	15254967	T	C	15254967	3	2	729	1	0	0	0	0	1	0	0	0	5492	1609	56	3	56	3	FAM171A1	10	15254967	Missense_Mutation	SNP	T	TCGA-KN-8423-01A-11D-2310-10	82751	15254967	120279780	29	40997											
GPRIN2	9721	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	10	46998903	46998903	+	Missense_Mutation	SNP	C	C	T	rs201821942		TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr10:46998903C>T	ENST00000374317.1	+	3	296	c.23C>T	c.(22-24)cCg>cTg	p.P8L	GPRIN2_ENST00000374314.4_Missense_Mutation_p.P8L	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	8										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						CGCCCCGAGCCGGGTCCCTGG	0.642													C|||	1	0.000199681	0.0	0.0	5008	,	,		32033	0.0		0.001	False		,,,				2504	0.0															0													52	71	65					10																	46998903		2183	4269	6452	SO:0001583	missense	9721			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.23C>T	10.37:g.46998903C>T	ENSP00000363436:p.Pro8Leu		Q5SVF0	Missense_Mutation	SNP	ENST00000374317.1	37	CCDS31192.1	.	.	.	.	.	.	.	.	.	.	C	1.482	-0.557032	0.03967	.	.	ENSG00000204175	ENST00000374317;ENST00000374314	T;T	0.03745	3.82;3.82	5.33	2.39	0.29439	.	0.314820	0.23345	N	0.049188	T	0.02688	0.0081	L	0.38838	1.175	0.28702	N	0.904026	P	0.41420	0.749	B	0.35770	0.21	T	0.39035	-0.9633	10	0.11182	T	0.66	-6.6511	8.5351	0.33357	0.3107:0.5393:0.15:0.0	.	8	O60269	GRIN2_HUMAN	L	8	ENSP00000363436:P8L;ENSP00000363433:P8L	ENSP00000363433:P8L	P	+	2	0	GPRIN2	46418909	0.016000	0.18221	0.062000	0.19696	0.207000	0.24258	0.730000	0.26043	0.303000	0.22785	-0.181000	0.13052	CCG		0.642	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	NM_014696		T	46998903	C	T	46998903	3	4	729	1	0	0	0	0	1	0	0	0	6732	652	23	1	25	1	GPRIN2	10	46998903	Missense_Mutation	SNP	C	TCGA-KN-8423-01A-11D-2310-10	31743936	46998903	88535844	30	40998											
PRLHR	2834	mdanderson.org	37	10	120353899	120353899	+	Silent	SNP	C	C	A	rs116062593	byFrequency	TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr10:120353899C>A	ENST00000369169.1	-	1	857	c.858G>T	c.(856-858)gtG>gtT	p.V286V	PRLHR_ENST00000239032.2_Silent_p.V286V			P49683	PRLHR_HUMAN	prolactin releasing hormone receptor	286					feeding behavior (GO:0007631)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|hormone metabolic process (GO:0042445)|neuropeptide signaling pathway (GO:0007218)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)|neuropeptide Y receptor activity (GO:0004983)			large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		AGACGGCGAACACCACCACGA	0.692													C|||	71	0.0141773	0.0144	0.0058	5008	,	,		15832	0.0		0.0139	False		,,,				2504	0.0348															0								C		41,4361		0,41,2160	30	33	32		858	2.4	1	10	dbSNP_132	32	115,8467		0,115,4176	no	coding-synonymous	PRLHR	NM_004248.2		0,156,6336	AA,AC,CC		1.34,0.9314,1.2015		286/371	120353899	156,12828	2201	4291	6492	SO:0001819	synonymous_variant	2834			AB048946	CCDS7606.1	10q25.3-q26	2014-02-21	2005-11-24	2005-11-24	ENSG00000119973	ENSG00000119973		"GPCR / Class A : RF amide peptide receptors"	4464	protein-coding gene	gene with protein product		600895	"G protein-coupled receptor 10"	GPR10		8666380, 15885496	Standard	NM_004248		Approved	PrRPR	uc001ldp.1	P49683	OTTHUMG00000019136	ENST00000369169.1:c.858G>T	10.37:g.120353899C>A			O75194|Q502U8|Q5VXR9	Silent	SNP	ENST00000369169.1	37	CCDS7606.1																																																																																				0.692	PRLHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050610.1	NM_004248		A	120353899	C	A	120353899	2	1	729	1	0	0	0	0	0	0	0	1	12535	465	17	4		4	PRLHR	10	120353899	Silent	SNP	C	TCGA-KN-8423-01A-11D-2310-10	73354996	120353899	15180848	31	40999											
PAOX	196743	ucsc.edu;bcgsc.ca	37	10	135193598	135193598	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr10:135193598A>G	ENST00000278060.5	+	2	360	c.277A>G	c.(277-279)Aag>Gag	p.K93E	PAOX_ENST00000480071.2_Missense_Mutation_p.K93E|PAOX_ENST00000368539.4_Intron|PAOX_ENST00000357296.3_Missense_Mutation_p.K93E|PAOX_ENST00000368535.2_3'UTR|AL360181.1_ENST00000597657.1_5'Flank	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN	polyamine oxidase (exo-N4-amino)	231					cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|positive regulation of spermidine biosynthetic process (GO:1901307)|putrescine biosynthetic process (GO:0009446)|putrescine catabolic process (GO:0009447)|small molecule metabolic process (GO:0044281)|spermidine catabolic process (GO:0046203)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	peroxisomal matrix (GO:0005782)	N(1),N(12)-diacetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052899)|N1-acetylspermidine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052904)|N1-acetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052903)|polyamine oxidase activity (GO:0046592)|receptor binding (GO:0005102)|spermidine:oxygen oxidoreductase (3-aminopropanal-forming) activity (GO:0052902)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		GCTGGGGGAGAAGGAGCTGTC	0.701																																																0													30	33	32					10																	135193598		2192	4298	6490	SO:0001583	missense	196743			BC032778	CCDS7682.1, CCDS7683.1, CCDS7684.1	10q26.3	2003-11-13			ENSG00000148832	ENSG00000148832			20837	protein-coding gene	gene with protein product		615853				12660232	Standard	NM_207127		Approved	PAO	uc001lmv.3	Q6QHF9	OTTHUMG00000019318	ENST00000278060.5:c.277A>G	10.37:g.135193598A>G	ENSP00000278060:p.Lys93Glu		D3DXI6|Q5VWY0|Q6QHF5|Q6QHF6|Q6QHF7|Q6QHF8|Q6QHG0|Q6QHG1|Q6QHG2|Q6QHG3|Q6QHG4|Q6QHG5|Q6QHG6|Q86WP9|Q8N555|Q8NCX3	Missense_Mutation	SNP	ENST00000278060.5	37	CCDS7683.1	.	.	.	.	.	.	.	.	.	.	A	7.816	0.716827	0.15306	.	.	ENSG00000148832	ENST00000368542;ENST00000278060;ENST00000357296;ENST00000480071	D;D;D	0.92149	-2.98;-2.98;-2.98	4.88	3.7	0.42460	.	0.308493	0.34088	N	0.004266	D	0.82917	0.5141	N	0.25094	0.71	0.80722	D	1	B;B;B	0.22683	0.017;0.073;0.003	B;B;B	0.31390	0.021;0.129;0.007	T	0.69209	-0.5205	10	0.08179	T	0.78	-25.1848	4.8478	0.13523	0.7108:0.1921:0.0971:0.0	.	93;93;93	Q6QHF9-5;Q6QHF9-4;Q6QHF9-2	.;.;.	E	93	ENSP00000278060:K93E;ENSP00000349847:K93E;ENSP00000435514:K93E	ENSP00000278060:K93E	K	+	1	0	PAOX	135043588	0.026000	0.19158	0.952000	0.39060	0.536000	0.34869	1.138000	0.31491	0.675000	0.31264	0.460000	0.39030	AAG		0.701	PAOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051146.2	NM_152911		G	135193598	A	G	135193598	3	3	729	1	0	0	0	0	1	0	0	0	11425	247	9	3	283	3	PAOX	10	135193598	Missense_Mutation	SNP	A	TCGA-KN-8423-01A-11D-2310-10	14839699	135193598	341149	32	41000											
MUC6	4588	mdanderson.org	37	11	1016606	1016606	+	Silent	SNP	T	T	C	rs148905794		TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr11:1016606T>C	ENST00000421673.2	-	31	6245	c.6195A>G	c.(6193-6195)acA>acG	p.T2065T		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2065	Thr-rich.				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)		TGGTGGTCACTGTCATTGGTG	0.572																																																0													242	260	254					11																	1016606		2181	4269	6450	SO:0001819	synonymous_variant	4588			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.6195A>G	11.37:g.1016606T>C			O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	CCDS44513.1																																																																																				0.572	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		C	1016606	T	C	1016606	2	2	729	1	0	0	0	0	0	0	0	1	9982	1567	55	3		3	MUC6	11	1016606	Silent	SNP	T	TCGA-KN-8423-01A-11D-2310-10		1016606	133989910	33	41001											
MUC2	4583	broad.mit.edu	37	11	1092849	1092849	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr11:1092849delG	ENST00000441003.2	+	30	4695	c.4668delG	c.(4666-4668)cagfs	p.Q1556fs	MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000359061.5_Frame_Shift_Del_p.Q1557fs|MUC2_ENST00000361558.6_Intron	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				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)	CCGGCACACAGACCCCAACAA	0.632																																																0													102	135	123					11																	1092849		1891	3510	5401	SO:0001589	frameshift_variant	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.4668delG	11.37:g.1092849delG	ENSP00000415183:p.Gln1556fs		Q14878	Frame_Shift_Del	DEL	ENST00000441003.2	37																																																																																					0.632	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		-	1092849	G	-	1092849	7	5	729	1	0	1	0	1	0	0	0	0	9977	933	33	0	4786	0	MUC2	11	1092849	Frame_Shift_Del	DEL	G	TCGA-KN-8423-01A-11D-2310-10	76243	1092849	133913667	34	41002											
KRTAP5-8	57830	mdanderson.org	37	11	71249605	71249605	+	Silent	SNP	C	C	T			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr11:71249605C>T	ENST00000398534.3	+	1	535	c.504C>T	c.(502-504)tgC>tgT	p.C168C		NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN	keratin associated protein 5-8	168	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						CCAGCTGCTGCAAGCCCTGCT	0.592																																																0													134	144	141					11																	71249605		2200	4294	6494	SO:0001819	synonymous_variant	57830			AB126077	CCDS41683.1	11q13.4	2008-02-05			ENSG00000241233	ENSG00000241233		"Keratin associated proteins"	23603	protein-coding gene	gene with protein product						15144888	Standard	NM_021046		Approved	KRTAP5.8, UHSKerB, KRTAP5-2	uc001oqr.1	O75690	OTTHUMG00000057571	ENST00000398534.3:c.504C>T	11.37:g.71249605C>T			Q6L8G7|Q6UTX6	Silent	SNP	ENST00000398534.3	37	CCDS41683.1																																																																																				0.592	KRTAP5-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127954.1	NM_021046		T	71249605	C	T	71249605	2	4	729	1	0	0	0	0	0	0	0	1	8569	718	25	2		2	KRTAP5-8	11	71249605	Silent	SNP	C	TCGA-KN-8423-01A-11D-2310-10	70156756	71249605	63756911	35	41003											
KIRREL3	84623	broad.mit.edu	37	11	126396466	126396466	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr11:126396466C>T	ENST00000525144.2	-	3	499	c.250G>A	c.(250-252)Ggc>Agc	p.G84S	KIRREL3_ENST00000529097.2_Missense_Mutation_p.G84S|KIRREL3_ENST00000525704.2_Missense_Mutation_p.G84S	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	84	Ig-like C2-type 1.				hemopoiesis (GO:0030097)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		AGAGCCAAGCCGTCCTTGATC	0.617																																																0													58	65	63					11																	126396466		2055	4185	6240	SO:0001583	missense	84623			AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	23204	protein-coding gene	gene with protein product		607761				12424224, 11347906	Standard	NM_032531		Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831	ENST00000525144.2:c.250G>A	11.37:g.126396466C>T	ENSP00000435466:p.Gly84Ser		Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	Missense_Mutation	SNP	ENST00000525144.2	37	CCDS53723.1	.	.	.	.	.	.	.	.	.	.	C	33	5.216205	0.95104	.	.	ENSG00000149571	ENST00000525144;ENST00000529097;ENST00000525704	T;T;T	0.37235	1.21;1.21;1.21	4.57	4.57	0.56435	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.67804	0.2932	M	0.90425	3.115	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.997	T	0.76558	-0.2915	10	0.72032	D	0.01	-14.5136	17.5449	0.87858	0.0:1.0:0.0:0.0	.	84;84;84	Q8IZU9-2;E9PRX9;Q8IZU9	.;.;KIRR3_HUMAN	S	84	ENSP00000435466:G84S;ENSP00000434081:G84S;ENSP00000435094:G84S	ENSP00000435466:G84S	G	-	1	0	KIRREL3	125901676	1.000000	0.71417	0.965000	0.40720	0.921000	0.55340	7.289000	0.78701	2.343000	0.79666	0.655000	0.94253	GGC		0.617	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386479.2	NM_032531		T	126396466	C	T	126396466	3	4	729	1	0	0	0	0	1	0	0	0	8328	652	23	1	2253	1	KIRREL3	11	126396466	Missense_Mutation	SNP	C	TCGA-KN-8423-01A-11D-2310-10	55146861	126396466	8610050	36	41004											
RNF10	9921	hgsc.bcm.edu	37	12	120972755	120972755	+	Silent	SNP	G	G	A	rs374593114		TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr12:120972755G>A	ENST00000325954.4	+	1	602	c.141G>A	c.(139-141)gaG>gaA	p.E47E	RNF10_ENST00000413266.2_Silent_p.E47E	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	47	Ser-rich.				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)					CAGCCGGCGAGTCTAAACCCA	0.682																																																0								G		0,4224		0,0,2112	10	15	13		141	5.1	1	12		13	1,8351		0,1,4175	no	coding-synonymous	RNF10	NM_014868.4		0,1,6287	AA,AG,GG		0.012,0.0,0.0080		47/812	120972755	1,12575	2112	4176	6288	SO:0001819	synonymous_variant	9921			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.141G>A	12.37:g.120972755G>A			Q92550|Q9NPP8|Q9ULW4	Silent	SNP	ENST00000325954.4	37	CCDS9201.1																																																																																				0.682	RNF10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401898.4			A	120972755	G	A	120972755	2	1	729	1	0	0	0	0	0	0	0	1	13428	1020	36	2		2	RNF10	12	120972755	Silent	SNP	G	TCGA-KN-8423-01A-11D-2310-10		120972755	12879140	37	41005											
EP400	57634	mdanderson.org	37	12	132547141	132547141	+	Silent	SNP	G	G	A			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr12:132547141G>A	ENST00000333577.4	+	48	8446	c.8337G>A	c.(8335-8337)caG>caA	p.Q2779Q	EP400_ENST00000332482.4_Silent_p.Q2706Q|EP400_ENST00000330386.6_Silent_p.Q2662Q|EP400_ENST00000389561.2_Silent_p.Q2743Q|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																																																2	Substitution - coding silent(2)	kidney(2)											52	42	46					12																	132547141		2203	4300	6503	SO:0001819	synonymous_variant	57634			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			O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37																																																																																					0.597	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		A	132547141	G	A	132547141	2	1	729	1	0	0	0	0	0	0	0	1	5151	962	34	2		2	EP400	12	132547141	Silent	SNP	G	TCGA-KN-8423-01A-11D-2310-10	11574386	132547141	1304754	38	41006											
CSNK1A1L	122011	broad.mit.edu	37	13	37678605	37678605	+	Silent	SNP	A	A	G			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr13:37678605A>G	ENST00000379800.3	-	1	1198	c.789T>C	c.(787-789)tgT>tgC	p.C263C		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	263	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell morphogenesis (GO:0000902)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		GCAGCCCACGACAGTAGTTCA	0.428																																																0													144	136	139					13																	37678605		2203	4300	6503	SO:0001819	synonymous_variant	122011			BC028723	CCDS9363.1	13q13.2	2008-02-05			ENSG00000180138	ENSG00000180138			20289	protein-coding gene	gene with protein product							Standard	NM_145203		Approved	MGC33182	uc001uwm.1	Q8N752	OTTHUMG00000016748	ENST00000379800.3:c.789T>C	13.37:g.37678605A>G			Q5T2N2	Silent	SNP	ENST00000379800.3	37	CCDS9363.1																																																																																				0.428	CSNK1A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044563.1	NM_145203		G	37678605	A	G	37678605	2	3	729	1	0	0	0	0	0	0	0	1	3953	273	10	3		3	CSNK1A1L	13	37678605	Silent	SNP	A	TCGA-KN-8423-01A-11D-2310-10		37678605	77491273	39	41007											
MYCBP2	23077	hgsc.bcm.edu;bcgsc.ca	37	13	77714270	77714270	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr13:77714270G>A	ENST00000544440.2	-	51	7333	c.7316C>T	c.(7315-7317)gCg>gTg	p.A2439V	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.A2439V|MYCBP2_ENST00000407578.2_Missense_Mutation_p.A2477V					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)		GCGAAGCCCCGCACTGTCCTT	0.418																																																0													69	67	68					13																	77714270		2203	4300	6503	SO:0001583	missense	23077			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"MYC binding protein 2"			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.7316C>T	13.37:g.77714270G>A	ENSP00000444596:p.Ala2439Val			Missense_Mutation	SNP	ENST00000544440.2	37		.	.	.	.	.	.	.	.	.	.	G	33	5.222024	0.95139	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.34667	1.35;1.35;1.35	5.68	5.68	0.88126	.	0.057680	0.64402	N	0.000002	T	0.56529	0.1991	L	0.49778	1.585	0.80722	D	1	D	0.76494	0.999	D	0.68621	0.959	T	0.55704	-0.8099	10	0.66056	D	0.02	.	19.7837	0.96428	0.0:0.0:1.0:0.0	.	2439	O75592	MYCB2_HUMAN	V	2439;2477;2439	ENSP00000349892:A2439V;ENSP00000384288:A2477V;ENSP00000444596:A2439V	ENSP00000349892:A2439V	A	-	2	0	MYCBP2	76612271	1.000000	0.71417	0.989000	0.46669	0.839000	0.47603	9.476000	0.97823	2.673000	0.90976	0.650000	0.86243	GCG		0.418	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		A	77714270	G	A	77714270	3	1	729	1	0	0	0	0	1	0	0	0	10020	1087	38	1	6738	1	MYCBP2	13	77714270	Missense_Mutation	SNP	G	TCGA-KN-8423-01A-11D-2310-10	40035665	77714270	37455608	40	41008											
TPP2	7174	ucsc.edu	37	13	103288039	103288039	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr13:103288039A>G	ENST00000376065.4	+	12	1532	c.1496A>G	c.(1495-1497)cAt>cGt	p.H499R	TPP2_ENST00000376052.3_Missense_Mutation_p.H499R	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	499	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)					GCTCAAGGACATGGTATTATT	0.323																																																0													95	97	96					13																	103288039		2203	4300	6503	SO:0001583	missense	7174			M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	3.4.14.10		12016	protein-coding gene	gene with protein product		190470				1670990	Standard	NM_003291		Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376065.4:c.1496A>G	13.37:g.103288039A>G	ENSP00000365233:p.His499Arg		Q5VZU8	Missense_Mutation	SNP	ENST00000376065.4	37	CCDS9502.1	.	.	.	.	.	.	.	.	.	.	A	17.29	3.352501	0.61293	.	.	ENSG00000134900	ENST00000376065;ENST00000376052	D;D	0.87809	-2.3;-2.3	5.83	5.83	0.93111	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.140126	0.64402	D	0.000004	D	0.82337	0.5015	L	0.39020	1.185	0.80722	D	1	P	0.38677	0.642	B	0.37550	0.253	T	0.81152	-0.1063	10	0.30078	T	0.28	.	16.2147	0.82198	1.0:0.0:0.0:0.0	.	499	P29144	TPP2_HUMAN	R	499	ENSP00000365233:H499R;ENSP00000365220:H499R	ENSP00000365220:H499R	H	+	2	0	TPP2	102086040	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	8.211000	0.89754	2.231000	0.72958	0.460000	0.39030	CAT		0.323	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045683.2			G	103288039	A	G	103288039	3	3	729	1	0	0	0	0	1	0	0	0	16417	217	8	3	1542	3	TPP2	13	103288039	Missense_Mutation	SNP	A	TCGA-KN-8423-01A-11D-2310-10	25573769	103288039	11881839	41	41009											
ACIN1	22985	mdanderson.org	37	14	23548793	23548793	+	Missense_Mutation	SNP	C	C	T	rs80007670	byFrequency	TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr14:23548793C>T	ENST00000262710.1	-	6	2252	c.1925G>A	c.(1924-1926)cGt>cAt	p.R642H	ACIN1_ENST00000457657.1_Missense_Mutation_p.R602H|ACIN1_ENST00000555352.1_5'Flank|ACIN1_ENST00000605057.1_Missense_Mutation_p.R584H|ACIN1_ENST00000555053.1_Missense_Mutation_p.R642H	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	642	Ser-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		AGAACGTGAACGTGACCTTGA	0.478																																																0								C	HIS/ARG,HIS/ARG,HIS/ARG	6,4400	6.2+/-15.9	0,6,2197	258	226	237		1925,1805,1925	3.2	0.8	14	dbSNP_131	237	24,8576	11.9+/-42.8	0,24,4276	yes	missense,missense,missense	ACIN1	NM_001164814.1,NM_001164815.1,NM_014977.3	29,29,29	0,30,6473	TT,TC,CC		0.2791,0.1362,0.2307	probably-damaging,probably-damaging,probably-damaging	642/1329,602/1302,642/1342	23548793	30,12976	2203	4300	6503	SO:0001583	missense	22985			AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 152"	604562	"apoptotic chromatin condensation inducer in the nucleus"	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.1925G>A	14.37:g.23548793C>T	ENSP00000262710:p.Arg642His		B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	ENST00000262710.1	37	CCDS9587.1	9	0.004120879120879121	1	0.0020325203252032522	4	0.011049723756906077	0	0.0	4	0.005277044854881266	C	14.59	2.580077	0.46006	0.001362	0.002791	ENSG00000100813	ENST00000262710;ENST00000457657;ENST00000555053	T;T;T	0.29917	2.39;1.55;2.39	5.05	3.18	0.36537	.	0.000000	0.40144	N	0.001165	T	0.20170	0.0485	L	0.27053	0.805	0.26413	N	0.976231	D;D;D	0.67145	0.992;0.986;0.996	P;P;P	0.51582	0.674;0.475;0.572	T	0.04440	-1.0951	10	0.59425	D	0.04	-4.3727	7.238	0.26079	0.0:0.7908:0.0:0.2092	.	642;642;602	G3V3M7;Q9UKV3;E7EQT4	.;ACINU_HUMAN;.	H	642;602;642	ENSP00000262710:R642H;ENSP00000405677:R602H;ENSP00000451328:R642H	ENSP00000262710:R642H	R	-	2	0	ACIN1	22618633	0.984000	0.35163	0.847000	0.33407	0.542000	0.35054	0.703000	0.25646	0.669000	0.31146	-0.216000	0.12614	CGT		0.478	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		T	23548793	C	T	23548793	3	4	729	1	0	0	0	0	1	0	0	0	142	536	19	1	2303	1	ACIN1	14	23548793	Missense_Mutation	SNP	C	TCGA-KN-8423-01A-11D-2310-10		23548793	83800747	42	41010											
MLH3	27030	broad.mit.edu	37	14	75513814	75513814	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr14:75513814T>C	ENST00000556740.1	-	1	2580	c.2545A>G	c.(2545-2547)Agt>Ggt	p.S849G	MLH3_ENST00000355774.2_Missense_Mutation_p.S849G|MLH3_ENST00000238662.7_Missense_Mutation_p.S849G|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000544985.1_5'Flank|MLH3_ENST00000555671.1_5'UTR|MLH3_ENST00000556257.1_Missense_Mutation_p.S849G			Q9UHC1	MLH3_HUMAN	mutL homolog 3	849					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		GTCATAGGACTTTCTCTCAAA	0.403								Mismatch excision repair (MMR)																																								0													83	88	86					14																	75513814		2203	4300	6503	SO:0001583	missense	27030			AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"mutL (E. coli) homolog 3", "mutL homolog 3 (E. coli)"			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.2545A>G	14.37:g.75513814T>C	ENSP00000452316:p.Ser849Gly		P49751|Q56DK9|Q9P292|Q9UHC0	Missense_Mutation	SNP	ENST00000556740.1	37	CCDS32123.1	.	.	.	.	.	.	.	.	.	.	T	9.918	1.211294	0.22289	.	.	ENSG00000119684	ENST00000355774;ENST00000238662;ENST00000556257;ENST00000556740	D;D;D;D	0.88431	-2.13;-2.26;-2.38;-2.13	5.93	5.93	0.95920	.	0.106980	0.64402	D	0.000004	D	0.88411	0.6429	M	0.68952	2.095	0.80722	D	1	B;B	0.30851	0.231;0.297	B;B	0.34452	0.183;0.129	D	0.87668	0.2539	10	0.72032	D	0.01	-17.858	12.7684	0.57405	0.0:0.0:0.0:1.0	.	849;849	Q9UHC1-2;Q9UHC1	.;MLH3_HUMAN	G	849	ENSP00000348020:S849G;ENSP00000238662:S849G;ENSP00000451540:S849G;ENSP00000452316:S849G	ENSP00000238662:S849G	S	-	1	0	MLH3	74583567	1.000000	0.71417	1.000000	0.80357	0.083000	0.17756	2.687000	0.46976	2.263000	0.75096	0.533000	0.62120	AGT		0.403	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1	NM_014381		C	75513814	T	C	75513814	3	2	729	1	0	0	0	0	1	0	0	0	9620	1609	56	3	1864	3	MLH3	14	75513814	Missense_Mutation	SNP	T	TCGA-KN-8423-01A-11D-2310-10	51965021	75513814	31835726	43	41011											
FLVCR2	55640	mdanderson.org	37	14	76045417	76045418	+	Missense_Mutation	DNP	GG	GG	CA	rs143304751	byFrequency	TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	GG	GG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr14:76045417_76045418GG>CA	ENST00000238667.4	+	1	458_459	c.102_103GG>CA	c.(100-105)tcGGtc>tcCAtc	p.V35I	AC007182.6_ENST00000455232.1_RNA	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	35	8 X 6 AA tandem repeats of P-S-[VS]-S- [VIAG]-[HNP].				heme transport (GO:0015886)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	heme binding (GO:0020037)|heme transporter activity (GO:0015232)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		CCAGCGTCTCGGTCCATCCCAG	0.644																																																0																																										SO:0001583	missense	55640			AK000378	CCDS9844.1, CCDS55933.1	14q24.3	2013-05-22	2007-05-01	2007-05-01	ENSG00000119686	ENSG00000119686		"Solute carriers"	20105	protein-coding gene	gene with protein product		610865	"chromosome 14 open reading frame 58", "feline leukemia virus subgroup C cellular receptor 2"	C14orf58		16439531, 20206334	Standard	NM_017791		Approved	FLJ20371, MFSD7C	uc001xrs.2	Q9UPI3	OTTHUMG00000171487	Exception_encountered	14.37:g.76045417_76045418delinsCA	ENSP00000238667:p.Val35Ile		B7Z485|Q53ZT9|Q96JY3|Q9NX90	Missense_Mutation	DNP	ENST00000238667.4	37	CCDS9844.1																																																																																				0.644	FLVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413672.1	NM_017791		CA	76045418	GG	CA	76045417	3	2	729	1	0	0	0	0	1	0	0	0	5948	1103	39	4	104	4	FLVCR2	14	76045417	Missense_Mutation	DNP	GG	TCGA-KN-8423-01A-11D-2310-10	531603	76045417	31304123	44	41012											
HSP90AA1	3320	mdanderson.org	37	14	102551272	102551272	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr14:102551272C>T	ENST00000216281.8	-	5	932	c.727G>A	c.(727-729)Gaa>Aaa	p.E243K	HSP90AA1_ENST00000334701.7_Missense_Mutation_p.E365K|HSP90AA1_ENST00000441629.2_Missense_Mutation_p.E64K	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	243					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	tctttttcttcttctttgtct	0.388																																																0													53	50	51					14																	102551272		2203	4300	6503	SO:0001583	missense	3320			M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"Heat shock proteins / HSPC"	5253	protein-coding gene	gene with protein product		140571	"heat shock 90kD protein 1, alpha", "heat shock 90kDa protein 1, alpha"	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.727G>A	14.37:g.102551272C>T	ENSP00000216281:p.Glu243Lys		A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Missense_Mutation	SNP	ENST00000216281.8	37	CCDS9967.1	.	.	.	.	.	.	.	.	.	.	c	11.94	1.788323	0.31593	.	.	ENSG00000080824	ENST00000216281;ENST00000334701;ENST00000441629;ENST00000553585	T;T;T;T	0.55052	0.54;0.54;0.54;0.54	3.73	3.73	0.42828	.	0.841759	0.10114	N	0.714232	T	0.42854	0.1221	L	0.37466	1.105	0.42720	D	0.993678	B;B;B	0.11235	0.0;0.004;0.001	B;B;B	0.13407	0.004;0.009;0.004	T	0.17806	-1.0357	10	0.21014	T	0.42	-20.443	11.761	0.51903	0.0:1.0:0.0:0.0	.	64;365;243	Q86U12;P07900-2;P07900	.;.;HS90A_HUMAN	K	243;365;64;174	ENSP00000216281:E243K;ENSP00000335153:E365K;ENSP00000396189:E64K;ENSP00000450712:E174K	ENSP00000216281:E243K	E	-	1	0	HSP90AA1	101621025	0.901000	0.30685	0.981000	0.43875	0.591000	0.36615	2.204000	0.42761	2.040000	0.60383	0.591000	0.81541	GAA		0.388	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414952.2	NM_005348		T	102551272	C	T	102551272	3	4	729	1	0	0	0	0	1	0	0	0	7403	922	32	2	1499	2	HSP90AA1	14	102551272	Missense_Mutation	SNP	C	TCGA-KN-8423-01A-11D-2310-10	26505855	102551272	4798268	45	41013											
AHNAK2	113146	mdanderson.org	37	14	105411957	105411957	+	Silent	SNP	G	G	A	rs373797895		TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr14:105411957G>A	ENST00000333244.5	-	7	9950	c.9831C>T	c.(9829-9831)gaC>gaT	p.D3277D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3277						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)			GGGCCTCGACGTCCACCTCCA	0.612																																																0													110	81	90					14																	105411957		1923	4091	6014	SO:0001819	synonymous_variant	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.9831C>T	14.37:g.105411957G>A			Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																				0.612	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		A	105411957	G	A	105411957	2	1	729	1	0	0	0	0	0	0	0	1	415	1136	40	1		1	AHNAK2	14	105411957	Silent	SNP	G	TCGA-KN-8423-01A-11D-2310-10	2860685	105411957	1937583	46	41014			1	91		2	2	15	N	T_G	2.713427e-05
AHNAK2	113146	mdanderson.org	37	14	105411971	105411971	+	Missense_Mutation	SNP	T	T	C	rs28737397	byFrequency	TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr14:105411971T>C	ENST00000333244.5	-	7	9936	c.9817A>G	c.(9817-9819)Agc>Ggc	p.S3273G	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3273						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)			ACCTCCATGCTGGGCTGAGAC	0.632													.|||	1310	0.261581	0.1369	0.3069	5008	,	,		15097	0.0843		0.4851	False		,,,				2504	0.3507															0								C	GLY/SER	34,3684		2,30,1827	104	79	87		9817	1.5	0.1	14	dbSNP_125	87	457,6761		37,383,3189	no	missense	AHNAK2	NM_138420.2	56	39,413,5016	CC,CT,TT		6.3314,0.9145,4.4898	benign	3273/5796	105411971	491,10445	1859	3609	5468	SO:0001583	missense	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.9817A>G	14.37:g.105411971T>C	ENSP00000353114:p.Ser3273Gly		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	222	0.10164835164835165	21	0.042682926829268296	49	0.13535911602209943	8	0.013986013986013986	144	0.18997361477572558	N	2.209	-0.381113	0.05000	0.009145	0.063314	ENSG00000185567	ENST00000333244	T	0.00682	5.86	3.87	1.45	0.22620	.	.	.	.	.	T	0.00012	0.0000	L	0.50333	1.59	0.80722	P	0.0	B	0.20261	0.043	B	0.20184	0.028	T	0.33497	-0.9866	8	0.22706	T	0.39	.	6.2963	0.21087	0.0:0.2172:0.0:0.7828	rs28737397	3273	Q8IVF2	AHNK2_HUMAN	G	3273	ENSP00000353114:S3273G	ENSP00000353114:S3273G	S	-	1	0	AHNAK2	104483016	0.007000	0.16637	0.102000	0.21198	0.005000	0.04900	0.903000	0.28475	0.023000	0.15187	-0.502000	0.04539	AGC		0.632	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		C	105411971	T	C	105411971	3	2	729	1	0	0	0	0	1	0	0	0	415	1580	55	3	7574	3	AHNAK2	14	105411971	Missense_Mutation	SNP	T	TCGA-KN-8423-01A-11D-2310-10	14	105411971	1937569	47	41015			1	91		2	2	15	N	T_G	2.713427e-05
MTA1	9112	bcgsc.ca	37	14	105932850	105932850	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr14:105932850T>C	ENST00000331320.7	+	17	1926	c.1712T>C	c.(1711-1713)gTc>gCc	p.V571A	MTA1_ENST00000435036.2_Missense_Mutation_p.V107A|RP11-521B24.5_ENST00000552675.1_RNA|MTA1_ENST00000405646.1_Missense_Mutation_p.V554A|MTA1_ENST00000406191.1_Missense_Mutation_p.V571A	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	571					circadian regulation of gene expression (GO:0032922)|double-strand break repair (GO:0006302)|entrainment of circadian clock by photoperiod (GO:0043153)|locomotor rhythm (GO:0045475)|positive regulation of protein autoubiquitination (GO:1902499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression, epigenetic (GO:0040029)|regulation of inflammatory response (GO:0050727)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|secretory granule organization (GO:0033363)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|microtubule (GO:0005874)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		GTGGCCCCCGTCATCAACAAC	0.697																																																0													17	19	18					14																	105932850		2178	4275	6453	SO:0001583	missense	9112			U35113	CCDS32169.1, CCDS55954.1	14q32.33	2013-01-25			ENSG00000182979	ENSG00000182979		"GATA zinc finger domain containing"	7410	protein-coding gene	gene with protein product		603526				8083195, 7607577	Standard	NM_004689		Approved		uc001yqx.3	Q13330	OTTHUMG00000150362	ENST00000331320.7:c.1712T>C	14.37:g.105932850T>C	ENSP00000333633:p.Val571Ala		A5PLK4|Q86SW2|Q8NFI8|Q96GI8	Missense_Mutation	SNP	ENST00000331320.7	37	CCDS32169.1	.	.	.	.	.	.	.	.	.	.	T	11.76	1.735576	0.30774	.	.	ENSG00000182979	ENST00000414153;ENST00000331320;ENST00000406191;ENST00000405646;ENST00000434050;ENST00000435036	T;T;T;T;T	0.44881	1.5;1.57;1.49;1.49;0.91	5.12	5.12	0.69794	.	0.152498	0.45361	D	0.000378	T	0.29914	0.0748	L	0.29908	0.895	0.49389	D	0.999785	B;B	0.09022	0.002;0.0	B;B	0.09377	0.004;0.001	T	0.09122	-1.0689	10	0.15952	T	0.53	-42.1318	12.8585	0.57899	0.0:0.0:0.0:1.0	.	363;571	Q59FW1;Q13330	.;MTA1_HUMAN	A	480;571;571;554;363;107	ENSP00000333633:V571A;ENSP00000385702:V571A;ENSP00000384180:V554A;ENSP00000394106:V363A;ENSP00000389425:V107A	ENSP00000333633:V571A	V	+	2	0	MTA1	105003895	1.000000	0.71417	1.000000	0.80357	0.698000	0.40448	4.901000	0.63259	1.930000	0.55929	0.459000	0.35465	GTC		0.697	MTA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317849.15			C	105932850	T	C	105932850	3	2	729	1	0	0	0	0	1	0	0	0	9910	1667	58	3	1778	3	MTA1	14	105932850	Missense_Mutation	SNP	T	TCGA-KN-8423-01A-11D-2310-10	520879	105932850	1416690	48	41016											
MGA	23269	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	15	42052530	42052530	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr15:42052530A>G	ENST00000570161.1	+	19	7201	c.7201A>G	c.(7201-7203)Att>Gtt	p.I2401V	MGA_ENST00000545763.1_Missense_Mutation_p.I2192V|MGA_ENST00000219905.7_Missense_Mutation_p.I2401V|MGA_ENST00000566586.1_Missense_Mutation_p.I2192V|MGA_ENST00000389936.4_Missense_Mutation_p.I2362V			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)	GGCTCCACCAATTCCTCTAAA	0.463																																																0													87	87	87					15																	42052530		1913	4128	6041	SO:0001583	missense	23269			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"MAX dimerization proteins", "T-boxes"	14010	protein-coding gene	gene with protein product			"MAX gene associated"				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.7201A>G	15.37:g.42052530A>G	ENSP00000457035:p.Ile2401Val		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	a	5.324	0.245095	0.10077	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.83591	-1.72;-1.73;-1.74	5.53	-11.1	0.00147	.	1.465370	0.04622	N	0.402182	T	0.58524	0.2128	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;0.0	T	0.49370	-0.8947	10	0.32370	T	0.25	.	4.9521	0.14019	0.5099:0.0734:0.2689:0.1478	.	1017;2192;2401	B4DVS1;F5H7K2;E7ENI0	.;.;.	V	2401;2362;2192	ENSP00000219905:I2401V;ENSP00000374586:I2362V;ENSP00000442467:I2192V	ENSP00000219905:I2401V	I	+	1	0	MGA	39839822	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-2.442000	0.01014	-2.453000	0.00541	-1.779000	0.00650	ATT		0.463	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		G	42052530	A	G	42052530	3	3	729	1	0	0	0	0	1	0	0	0	9542	101	4	3	7275	3	MGA	15	42052530	Missense_Mutation	SNP	A	TCGA-KN-8423-01A-11D-2310-10		42052530	60478862	49	41017											
METTL9	51108	hgsc.bcm.edu	37	16	21611112	21611112	+	Missense_Mutation	SNP	A	A	T	rs200797380		TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr16:21611112A>T	ENST00000358154.3	+	1	316	c.58A>T	c.(58-60)Agg>Tgg	p.R20W	METTL9_ENST00000396014.4_Missense_Mutation_p.R20W	NM_001077180.1|NM_016025.3	NP_001070648.1|NP_057109.3	Q9H1A3	METL9_HUMAN	methyltransferase like 9	20										endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	7				GBM - Glioblastoma multiforme(48;0.0759)		GCTGGCGCGGAGGATGTGGAC	0.756																																																0								A	TRP/ARG,TRP/ARG	0,3834		0,0,1917	6	8	8		58,58	4.4	1	16		8	11,7793		0,11,3891	yes	missense,missense	METTL9	NM_001077180.1,NM_016025.3	101,101	0,11,5808	TT,TA,AA		0.141,0.0,0.0945	probably-damaging,probably-damaging	20/318,20/319	21611112	11,11627	1917	3902	5819	SO:0001583	missense	51108			NM_016025, AF151839	CCDS10598.2, CCDS45440.1	16p12.2	2008-11-06			ENSG00000197006	ENSG00000197006			24586	protein-coding gene	gene with protein product	"DORA reverse strand protein 1"	609388				10810093, 11132146	Standard	NM_001077180		Approved	DREV1	uc002dje.3	Q9H1A3	OTTHUMG00000131584	ENST00000358154.3:c.58A>T	16.37:g.21611112A>T	ENSP00000350874:p.Arg20Trp		Q8NBT8|Q9BWJ7|Q9H1A2|Q9Y390	Missense_Mutation	SNP	ENST00000358154.3	37	CCDS10598.2	.	.	.	.	.	.	.	.	.	.	A	17.97	3.519579	0.64634	0.0	0.00141	ENSG00000197006	ENST00000358154;ENST00000396014	.	.	.	4.43	4.43	0.53597	.	0.187364	0.45867	U	0.000328	T	0.50154	0.1599	N	0.24115	0.695	0.37282	D	0.907887	P;D	0.63046	0.939;0.992	B;P	0.55545	0.427;0.778	T	0.60372	-0.7276	9	0.87932	D	0	-4.0636	10.3188	0.43753	1.0:0.0:0.0:0.0	.	20;20	Q9H1A3-2;Q9H1A3	.;METL9_HUMAN	W	20	.	ENSP00000350874:R20W	R	+	1	2	METTL9	21518613	1.000000	0.71417	1.000000	0.80357	0.618000	0.37518	1.133000	0.31430	1.742000	0.51746	0.391000	0.25812	AGG		0.756	METTL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254465.1	NM_016025		T	21611112	A	T	21611112	3	4	729	1	0	0	0	0	1	0	0	0	9510	295	11	5	60	5	METTL9	16	21611112	Missense_Mutation	SNP	A	TCGA-KN-8423-01A-11D-2310-10		21611112	68743641	50	41018											
FHOD1	29109	bcgsc.ca	37	16	67271285	67271285	+	Splice_Site	SNP	T	T	C			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr16:67271285T>C	ENST00000258201.4	-	9	1097	c.850A>G	c.(850-852)Acg>Gcg	p.T284A		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	284	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				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)		GCCGCCAGCGTCTGGAGGGCG	0.647																																																0													53	55	54					16																	67271285		2198	4300	6498	SO:0001630	splice_region_variant	29109			AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.850-1A>G	16.37:g.67271285T>C			Q59F76|Q6Y1F2|Q76MS8|Q8N521	Missense_Mutation	SNP	ENST00000258201.4	37	CCDS10834.1	.	.	.	.	.	.	.	.	.	.	T	17.15	3.315632	0.60524	.	.	ENSG00000135723	ENST00000258201	T	0.24908	1.83	5.36	5.36	0.76844	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);	0.111140	0.64402	D	0.000014	T	0.45736	0.1357	L	0.52905	1.665	0.80722	D	1	D	0.71674	0.998	D	0.72625	0.978	T	0.37244	-0.9714	10	0.54805	T	0.06	.	14.4938	0.67670	0.0:0.0:0.0:1.0	.	284	Q9Y613	FHOD1_HUMAN	A	284	ENSP00000258201:T284A	ENSP00000258201:T284A	T	-	1	0	FHOD1	65828786	1.000000	0.71417	0.985000	0.45067	0.224000	0.24922	6.173000	0.71937	2.154000	0.67381	0.533000	0.62120	ACG		0.647	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268844.2		Missense_Mutation	C	67271285	T	C	67271285	5	2	729	1	0	0	0	0	0	0	1	0	5884	1681	58	3	2700	3	FHOD1	16	67271285	Splice_Site	SNP	T	TCGA-KN-8423-01A-11D-2310-10	45660173	67271285	23083468	51	41019											
TMCO7	79613	bcgsc.ca	37	16	68961955	68961955	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr16:68961955A>G	ENST00000261778.1	+	13	2624	c.2612A>G	c.(2611-2613)aAa>aGa	p.K871R	RP11-521L9.1_ENST00000562790.1_lincRNA	NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	871						integral component of membrane (GO:0016021)											AGAGAAGCAAAAGCCCTTGAG	0.483																																																0													31	29	30					16																	68961955		1898	4138	6036	SO:0001583	missense	79613				CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 7"	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.2612A>G	16.37:g.68961955A>G	ENSP00000261778:p.Lys871Arg		Q569F9|Q9H9K1	Missense_Mutation	SNP	ENST00000261778.1	37	CCDS45516.1	.	.	.	.	.	.	.	.	.	.	A	10.88	1.475124	0.26511	.	.	ENSG00000103047	ENST00000261778	T	0.64991	-0.13	5.37	3.02	0.34903	Armadillo-like helical (1);Armadillo-type fold (1);	0.443179	0.27433	N	0.019385	T	0.30854	0.0778	N	0.04508	-0.205	0.23336	N	0.997886	B	0.02656	0.0	B	0.04013	0.001	T	0.14504	-1.0470	10	0.13853	T	0.58	-3.9361	3.9605	0.09409	0.6643:0.0:0.1851:0.1506	.	871	Q9C0B7	TMCO7_HUMAN	R	871	ENSP00000261778:K871R	ENSP00000261778:K871R	K	+	2	0	TMCO7	67519456	0.127000	0.22367	0.584000	0.28653	0.998000	0.95712	1.029000	0.30140	0.317000	0.23160	0.533000	0.62120	AAA		0.483	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433471.2	XM_928235.2		G	68961955	A	G	68961955	3	3	729	1	0	0	0	0	1	0	0	0	16006	14	1	3	2662	3	TMCO7	16	68961955	Missense_Mutation	SNP	A	TCGA-KN-8423-01A-11D-2310-10	1690670	68961955	21392798	52	41020											
TP53	7157	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	17	7577566	7577566	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr17:7577566T>C	ENST00000269305.4	-	7	904	c.715A>G	c.(715-717)Aac>Gac	p.N239D	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.N239D|TP53_ENST00000413465.2_Missense_Mutation_p.N239D|TP53_ENST00000420246.2_Missense_Mutation_p.N239D|TP53_ENST00000455263.2_Missense_Mutation_p.N239D|TP53_ENST00000445888.2_Missense_Mutation_p.N239D	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.N239D(33)|p.N239fs*25(12)|p.0?(8)|p.N239Y(6)|p.N239fs*1(5)|p.?(5)|p.M237_N239delMCN(4)|p.N239_C242delNSSC(3)|p.N239fs*8(2)|p.N239_S240delNS(2)|p.N239fs*26(1)|p.N146D(1)|p.N146fs*1(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.N239fs*6(1)|p.N239fs*4(1)|p.C238_N239insX(1)|p.C238_M246delCNSSCMGGM(1)|p.M144_N146delMCN(1)|p.C238fs*21(1)|p.H233fs*6(1)|p.N239*(1)|p.H233_C242del10(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)	CAGGAACTGTTACACATGTAG	0.572		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	95	Substitution - Missense(40)|Insertion - Frameshift(18)|Deletion - In frame(14)|Whole gene deletion(8)|Deletion - Frameshift(7)|Unknown(5)|Substitution - Nonsense(1)|Complex - frameshift(1)|Insertion - In frame(1)	ovary(14)|oesophagus(11)|haematopoietic_and_lymphoid_tissue(10)|biliary_tract(7)|central_nervous_system(7)|large_intestine(7)|lung(7)|breast(6)|upper_aerodigestive_tract(5)|endometrium(5)|bone(5)|urinary_tract(4)|stomach(3)|prostate(2)|liver(1)|pancreas(1)											133	104	114					17																	7577566		2203	4300	6503	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.715A>G	17.37:g.7577566T>C	ENSP00000269305:p.Asn239Asp		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	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.564934	0.86439	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99748	-6.62;-6.62;-6.62;-6.62;-6.62;-6.62;-6.62;-6.62	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	0.99648	0.9870	M	0.87381	2.88	0.58432	D	0.99999	D;D;D;D;D;D	0.89917	0.999;0.972;0.999;0.999;0.999;1.0	D;P;D;D;D;D	0.91635	0.993;0.803;0.998;0.993;0.996;0.999	D	0.97636	1.0145	10	0.87932	D	0	-35.9081	11.6823	0.51466	0.0:0.0:0.0:1.0	.	239;239;146;239;239;239	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	D	239;239;239;239;239;239;228;146;107;146	ENSP00000410739:N239D;ENSP00000352610:N239D;ENSP00000269305:N239D;ENSP00000398846:N239D;ENSP00000391127:N239D;ENSP00000391478:N239D;ENSP00000425104:N107D;ENSP00000423862:N146D	ENSP00000269305:N239D	N	-	1	0	TP53	7518291	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.770000	0.85390	2.074000	0.62210	0.379000	0.24179	AAC		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7577566	T	C	7577566	3	2	729	1	0	0	0	0	1	0	0	0	16386	1754	61	3	575	3	TP53	17	7577566	Missense_Mutation	SNP	T	TCGA-KN-8423-01A-11D-2310-10		7577566	73617644	53	41021											
ZNF555	148254	broad.mit.edu;hgsc.bcm.edu	37	19	2853382	2853382	+	Missense_Mutation	SNP	G	G	A	rs557630264		TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr19:2853382G>A	ENST00000334241.4	+	4	1457	c.1319G>A	c.(1318-1320)cGa>cAa	p.R440Q	ZNF555_ENST00000591539.1_Missense_Mutation_p.R439Q|AC006130.3_ENST00000589365.1_RNA	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	440					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(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				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)		ATATCTTTACGAAAACATATG	0.453													G|||	1	0.000199681	0.0	0.0	5008	,	,		24089	0.001		0.0	False		,,,				2504	0.0															0													60	52	54					19																	2853382		2203	4300	6503	SO:0001583	missense	148254			AL832140	CCDS12096.1, CCDS59329.1	19p13.3	2013-09-20			ENSG00000186300	ENSG00000186300		"Zinc fingers, C2H2-type", "-"	28382	protein-coding gene	gene with protein product						12477932	Standard	NM_152791		Approved	MGC26707	uc002lwo.3	Q8NEP9	OTTHUMG00000180500	ENST00000334241.4:c.1319G>A	19.37:g.2853382G>A	ENSP00000334853:p.Arg440Gln		A8KA89|K7EQM2|Q8NA46|Q96MP1	Missense_Mutation	SNP	ENST00000334241.4	37	CCDS12096.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.572211	0.28092	.	.	ENSG00000186300	ENST00000334241;ENST00000382127	T	0.04275	3.66	3.22	-0.334	0.12666	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01870	0.0059	N	0.13168	0.305	0.09310	N	1	P;P	0.39157	0.662;0.638	B;B	0.24394	0.039;0.053	T	0.46775	-0.9167	9	0.21540	T	0.41	.	3.8104	0.08795	0.2611:0.4116:0.3272:0.0	.	440;439	Q8NEP9;A8KA89	ZN555_HUMAN;.	Q	440;439	ENSP00000334853:R440Q	ENSP00000334853:R440Q	R	+	2	0	ZNF555	2804382	0.000000	0.05858	0.001000	0.08648	0.814000	0.46013	-1.600000	0.02083	0.158000	0.19367	0.561000	0.74099	CGA		0.453	ZNF555-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451637.3	NM_152791		A	2853382	G	A	2853382	3	1	729	1	0	0	0	0	1	0	0	0	17991	1058	37	1	1333	1	ZNF555	19	2853382	Missense_Mutation	SNP	G	TCGA-KN-8423-01A-11D-2310-10		2853382	56275601	54	41022											
MUC16	94025	mdanderson.org	37	19	9005616	9005616	+	Missense_Mutation	SNP	G	G	T	rs78831402		TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr19:9005616G>T	ENST00000397910.4	-	46	39993	c.39790C>A	c.(39790-39792)Cac>Aac	p.H13264N	MUC16_ENST00000380951.5_5'Flank	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13266	SEA 8. {ECO:0000255|PROSITE- ProRule:PRU00188}.				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						GTGATGCTGTGGGTCAGCTGG	0.562																																																0													168	152	157					19																	9005616		2047	4181	6228	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.39790C>A	19.37:g.9005616G>T	ENSP00000381008:p.His13264Asn		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	2.713	-0.268436	0.05716	.	.	ENSG00000181143	ENST00000397910;ENST00000441155	T	0.35605	1.3	3.14	0.596	0.17496	SEA (1);	.	.	.	.	T	0.40645	0.1125	.	.	.	.	.	.	B;P	0.39044	0.001;0.656	B;P	0.48627	0.005;0.584	T	0.53837	-0.8382	7	0.87932	D	0	-0.3413	7.148	0.25593	0.0:0.0:0.5152:0.4848	.	20909;13264	Q8WXI7;B5ME49	MUC16_HUMAN;.	N	13264;395	ENSP00000381008:H13264N	ENSP00000381008:H13264N	H	-	1	0	MUC16	8866616	0.001000	0.12720	0.028000	0.17463	0.040000	0.13550	0.565000	0.23578	0.601000	0.29879	-0.373000	0.07131	CAC		0.562	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9005616	G	T	9005616	3	4	729	1	0	0	0	0	1	0	0	0	9975	1348	47	4	3889	4	MUC16	19	9005616	Missense_Mutation	SNP	G	TCGA-KN-8423-01A-11D-2310-10	6152234	9005616	50123367	55	41023											
MUC16	94025	mdanderson.org	37	19	9018508	9018508	+	Missense_Mutation	SNP	T	T	G	rs74488264		TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr19:9018508T>G	ENST00000397910.4	-	24	37869	c.37666A>C	c.(37666-37668)Aag>Cag	p.K12556Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12558	SEA 4. {ECO:0000255|PROSITE- ProRule:PRU00188}.				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						TCCTCATACTTCAGGTTGGTG	0.512																																																0													234	198	209					19																	9018508		1978	4180	6158	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.37666A>C	19.37:g.9018508T>G	ENSP00000381008:p.Lys12556Gln		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	8.033	0.762173	0.15914	.	.	ENSG00000181143	ENST00000397910	T	0.29397	1.57	2.01	-4.02	0.04034	.	.	.	.	.	T	0.05547	0.0146	N	0.00138	-2.015	.	.	.	B	0.20052	0.041	B	0.09377	0.004	T	0.32534	-0.9903	8	0.87932	D	0	.	2.4995	0.04630	0.3117:0.0:0.2615:0.4268	.	12556	B5ME49	.	Q	12556	ENSP00000381008:K12556Q	ENSP00000381008:K12556Q	K	-	1	0	MUC16	8879508	0.000000	0.05858	0.008000	0.14137	0.336000	0.28762	-1.612000	0.02061	-0.971000	0.03564	0.164000	0.16699	AAG		0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		G	9018508	T	G	9018508	3	3	729	1	0	0	0	0	1	0	0	0	9975	1792	62	5	6101	5	MUC16	19	9018508	Missense_Mutation	SNP	T	TCGA-KN-8423-01A-11D-2310-10	12892	9018508	50110475	56	41024											
ZNF20	7568	broad.mit.edu	37	19	12244276	12244276	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr19:12244276A>G	ENST00000334213.5	-	4	949	c.725T>C	c.(724-726)cTt>cCt	p.L242P	ZNF20_ENST00000600335.1_Intron|ZNF20_ENST00000485451.1_5'Flank|ZNF625-ZNF20_ENST00000430024.1_3'UTR	NM_001203250.1|NM_021143.3	NP_001190179.1|NP_066966.2	P17024	ZNF20_HUMAN	zinc finger protein 20	242					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)|lung(6)	8						ATGTACTGGAAGGGTAGTGGA	0.378																																																0													89	93	91					19																	12244276		2153	4270	6423	SO:0001583	missense	7568			X52344	CCDS45986.1	19p13.2	2013-01-08	2006-05-10		ENSG00000132010	ENSG00000132010		"Zinc fingers, C2H2-type", "-"	12992	protein-coding gene	gene with protein product		194557	"zinc finger protein 20 (KOX 13)"				Standard	NM_021143		Approved	KOX13	uc002mtf.2	P17024	OTTHUMG00000156409	ENST00000334213.5:c.725T>C	19.37:g.12244276A>G	ENSP00000335437:p.Leu242Pro		Q8N457|Q9UG41	Missense_Mutation	SNP	ENST00000334213.5	37	CCDS45986.1	.	.	.	.	.	.	.	.	.	.	A	12.60	1.987020	0.35036	.	.	ENSG00000132010	ENST00000334213;ENST00000292241	T	0.26660	1.72	0.94	0.94	0.19513	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46328	0.1387	M	0.89534	3.04	0.09310	N	0.999996	D	0.65815	0.995	P	0.56514	0.8	T	0.30446	-0.9978	9	0.87932	D	0	.	6.0337	0.19694	1.0:0.0:0.0:0.0	.	242	P17024	ZNF20_HUMAN	P	242	ENSP00000335437:L242P	ENSP00000292241:L242P	L	-	2	0	ZNF20	12105276	0.023000	0.18921	0.001000	0.08648	0.153000	0.21895	3.031000	0.49728	0.654000	0.30846	0.260000	0.18958	CTT		0.378	ZNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344101.1	NM_021143		G	12244276	A	G	12244276	3	3	729	1	0	0	0	0	1	0	0	0	17766	72	3	3	877	3	ZNF20	19	12244276	Missense_Mutation	SNP	A	TCGA-KN-8423-01A-11D-2310-10	3225768	12244276	46884707	57	41025											
CRTC1	23373	broad.mit.edu	37	19	18879483	18879483	+	Silent	SNP	C	C	T			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr19:18879483C>T	ENST00000321949.8	+	10	1226	c.1200C>T	c.(1198-1200)ccC>ccT	p.P400P	CRTC1_ENST00000594658.1_Silent_p.P359P|CRTC1_ENST00000601916.1_Intron|CRTC1_ENST00000338797.6_Silent_p.P416P	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						CCCTGTTGCCCAGCGCCAGCC	0.756																																																0													9	9	9					19																	18879483		2174	4238	6412	SO:0001819	synonymous_variant	23373			AY040323	CCDS32963.1, CCDS42525.1	19p13	2012-07-31	2005-11-24	2005-11-24					16062	protein-coding gene	gene with protein product	"transducer of regulated cAMP response element-binding protein"	607536	"mucoepidermoid carcinoma translocated 1"	MECT1		12539049, 14536081, 14506290	Standard	NM_015321		Approved	KIAA0616, FLJ14027, TORC1	uc010ebv.3	Q6UUV9		ENST00000321949.8:c.1200C>T	19.37:g.18879483C>T				Silent	SNP	ENST00000321949.8	37	CCDS32963.1																																																																																				0.756	CRTC1-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465151.3	NM_025021		T	18879483	C	T	18879483	2	4	729	1	0	0	0	0	0	0	0	1	3901	581	21	2		2	CRTC1	19	18879483	Silent	SNP	C	TCGA-KN-8423-01A-11D-2310-10	6635207	18879483	40249500	58	41026											
GAPDHS	26330	hgsc.bcm.edu	37	19	36033313	36033313	+	Splice_Site	SNP	T	T	C	rs558746420	byFrequency	TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr19:36033313T>C	ENST00000222286.4	+	5	656		c.e5+2		AD000090.2_ENST00000590125.1_RNA|AD000090.2_ENST00000590717.1_RNA|AD000090.2_ENST00000589137.1_RNA|AD000090.2_ENST00000444728.1_RNA|AD000090.2_ENST00000588286.1_RNA	NM_014364.4	NP_055179.1	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase, spermatogenic						carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of glycolytic process (GO:0045821)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	cytosol (GO:0005829)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity (GO:0004365)|NAD binding (GO:0051287)|NADP binding (GO:0050661)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCAGCTTCGGTAAGCTGGGGA	0.637																																																0													43	42	42					19																	36033313		2203	4300	6503	SO:0001630	splice_region_variant	26330			AJ005371	CCDS12465.1	19q13.1	2008-02-05		2005-05-06		ENSG00000105679			24864	protein-coding gene	gene with protein product		609169		GAPDS		10714828	Standard	NM_014364		Approved	GAPDH-2, GAPD2	uc002oaf.1	O14556		ENST00000222286.4:c.540+2T>C	19.37:g.36033313T>C			B2RC82|O60823|Q6JTT9|Q9HCU6	Splice_Site	SNP	ENST00000222286.4	37	CCDS12465.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.031348	0.75504	.	.	ENSG00000105679	ENST00000222286	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8058	0.52155	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	GAPDHS	40725153	1.000000	0.71417	0.798000	0.32154	0.842000	0.47809	7.479000	0.81095	2.115000	0.64714	0.379000	0.24179	.		0.637	GAPDHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460423.1	NM_014364	Intron	C	36033313	T	C	36033313	5	2	729	1	0	0	0	0	0	0	1	0	6239	1652	57	3	560	3	GAPDHS	19	36033313	Splice_Site	SNP	T	TCGA-KN-8423-01A-11D-2310-10	17153830	36033313	23095670	59	41027											
PTPRA	5786	broad.mit.edu;bcgsc.ca	37	20	2998555	2998555	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr20:2998555A>G	ENST00000216877.6	+	12	1410	c.1010A>G	c.(1009-1011)aAg>aGg	p.K337R	PTPRA_ENST00000356147.3_Missense_Mutation_p.K337R|PTPRA_ENST00000358719.4_Missense_Mutation_p.K202R|PTPRA_ENST00000318266.5_Missense_Mutation_p.K337R|PTPRA_ENST00000380393.3_Missense_Mutation_p.K346R|PTPRA_ENST00000425918.2_Missense_Mutation_p.K357R|PTPRA_ENST00000399903.2_Missense_Mutation_p.K346R	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	346	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AAGGAGAGAAAGGAGGTAAGT	0.453																																																0													99	90	93					20																	2998555		2203	4300	6503	SO:0001583	missense	5786				CCDS13038.1, CCDS13039.1	20p13	2011-06-09			ENSG00000132670	ENSG00000132670		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9664	protein-coding gene	gene with protein product		176884		PTPRL2, PTPA		2172030, 2169617	Standard	NM_080840		Approved	LRP, HLPR, HPTPA, RPTPA	uc002whn.3	P18433	OTTHUMG00000031718	ENST00000216877.6:c.1010A>G	20.37:g.2998555A>G	ENSP00000216877:p.Lys337Arg		A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Missense_Mutation	SNP	ENST00000216877.6	37	CCDS13039.1	.	.	.	.	.	.	.	.	.	.	A	28.2	4.895360	0.91962	.	.	ENSG00000132670	ENST00000380393;ENST00000216877;ENST00000399903;ENST00000358719;ENST00000425918;ENST00000318266;ENST00000356147	T;T;T;T;T;T;T	0.11495	2.77;2.77;2.77;2.77;2.77;2.77;2.77	5.93	5.93	0.95920	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	U	0.000000	T	0.28566	0.0707	L	0.49455	1.56	0.80722	D	1	P;D;P	0.61697	0.834;0.99;0.85	P;D;P	0.71870	0.512;0.975;0.51	T	0.00473	-1.1718	10	0.72032	D	0.01	.	16.3943	0.83563	1.0:0.0:0.0:0.0	.	357;346;337	B7Z2A4;P18433;P18433-4	.;PTPRA_HUMAN;.	R	346;337;346;202;357;337;337	ENSP00000369756:K346R;ENSP00000216877:K337R;ENSP00000382787:K346R;ENSP00000351559:K202R;ENSP00000393553:K357R;ENSP00000314568:K337R;ENSP00000348468:K337R	ENSP00000216877:K337R	K	+	2	0	PTPRA	2946555	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	7.204000	0.77872	2.281000	0.76405	0.533000	0.62120	AAG		0.453	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077682.3			G	2998555	A	G	2998555	3	3	729	1	0	0	0	0	1	0	0	0	12801	72	3	3	1075	3	PTPRA	20	2998555	Missense_Mutation	SNP	A	TCGA-KN-8423-01A-11D-2310-10		2998555	60026965	60	41028											
NCOA3	8202	mdanderson.org	37	20	46279863	46279863	+	Silent	SNP	G	G	A	rs578139784|rs112826888|rs573532891	byFrequency	TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr20:46279863G>A	ENST00000371998.3	+	20	3980	c.3789G>A	c.(3787-3789)caG>caA	p.Q1263Q	NCOA3_ENST00000372004.3_Silent_p.Q1259Q|NCOA3_ENST00000371997.3_Silent_p.Q1254Q|NCOA3_ENST00000341724.6_Silent_p.Q1189Q			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															0													58	62	60					20																	46279863		2203	4300	6503	SO:0001819	synonymous_variant	8202			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			A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	ENST00000371998.3	37	CCDS13407.1																																																																																				0.567	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		A	46279863	G	A	46279863	2	1	729	1	0	0	0	0	0	0	0	1	10232	962	34	2		2	NCOA3	20	46279863	Silent	SNP	G	TCGA-KN-8423-01A-11D-2310-10	43281308	46279863	16745657	61	41029											
KRTAP10-2	386679	mdanderson.org	37	21	45970772	45970772	+	Silent	SNP	A	A	G	rs76021731|rs67692969|rs71199610	byFrequency	TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr21:45970772A>G	ENST00000391621.1	-	1	616	c.570T>C	c.(568-570)ccT>ccC	p.P190P	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron|KRTAP10-2_ENST00000498210.1_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	190	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				large_intestine(1)|lung(4)|skin(1)	6						TGCAGCAGACAGGCTTGCAGC	0.607																																																0													111	112	112					21																	45970772		2192	4282	6474	SO:0001819	synonymous_variant	386679			AJ566381	CCDS42955.1	21q22.3	2007-10-05			ENSG00000205445	ENSG00000205445		"Keratin associated proteins"	22967	protein-coding gene	gene with protein product				KRTAP18-2			Standard	NM_198693		Approved	KAP10.2, KAP18.2	uc002zfi.1	P60368	OTTHUMG00000057625	ENST00000391621.1:c.570T>C	21.37:g.45970772A>G			Q70LJ5	Silent	SNP	ENST00000391621.1	37	CCDS42955.1																																																																																				0.607	KRTAP10-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128027.1			G	45970772	A	G	45970772	2	3	729	1	0	0	0	0	0	0	0	1	8511	175	7	3		3	KRTAP10-2	21	45970772	Silent	SNP	A	TCGA-KN-8423-01A-11D-2310-10		45970772	2159123	62	41030	371	2									
KRTAP10-2	386679	mdanderson.org	37	21	45970774	45970774	+	Missense_Mutation	SNP	G	G	A	rs76536096|rs67692969|rs71199610	byFrequency	TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr21:45970774G>A	ENST00000391621.1	-	1	614	c.568C>T	c.(568-570)Cct>Tct	p.P190S	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron|KRTAP10-2_ENST00000498210.1_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	190	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				large_intestine(1)|lung(4)|skin(1)	6						CAGCAGACAGGCTTGCAGCAG	0.607																																																0													110	112	111					21																	45970774		2192	4279	6471	SO:0001583	missense	386679			AJ566381	CCDS42955.1	21q22.3	2007-10-05			ENSG00000205445	ENSG00000205445		"Keratin associated proteins"	22967	protein-coding gene	gene with protein product				KRTAP18-2			Standard	NM_198693		Approved	KAP10.2, KAP18.2	uc002zfi.1	P60368	OTTHUMG00000057625	ENST00000391621.1:c.568C>T	21.37:g.45970774G>A	ENSP00000375479:p.Pro190Ser		Q70LJ5	Missense_Mutation	SNP	ENST00000391621.1	37	CCDS42955.1	.	.	.	.	.	.	.	.	.	.	g	9.523	1.108901	0.20714	.	.	ENSG00000205445	ENST00000391621	T	0.01705	4.68	3.28	0.222	0.15288	.	.	.	.	.	T	0.02083	0.0065	L	0.49455	1.56	0.09310	N	1	B	0.26672	0.156	B	0.24394	0.053	T	0.42310	-0.9459	9	0.62326	D	0.03	.	4.9369	0.13944	0.2108:0.1755:0.6137:0.0	.	190	P60368	KR102_HUMAN	S	190	ENSP00000375479:P190S	ENSP00000375479:P190S	P	-	1	0	KRTAP10-2	44795202	0.105000	0.21958	0.000000	0.03702	0.002000	0.02628	1.284000	0.33249	-0.177000	0.10690	0.462000	0.41574	CCT		0.607	KRTAP10-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128027.1			A	45970774	G	A	45970774	3	1	729	1	0	0	0	0	1	0	0	0	8511	1203	42	2	203	2	KRTAP10-2	21	45970774	Missense_Mutation	SNP	G	TCGA-KN-8423-01A-11D-2310-10	2	45970774	2159121	63	41031	371	2									
NEFH	4744	ucsc.edu;mdanderson.org	37	22	29885594	29885594	+	Silent	SNP	A	A	T	rs79235463|rs200984527|rs267607533	byFrequency	TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr22:29885594A>T	ENST00000310624.6	+	4	1998	c.1965A>T	c.(1963-1965)ccA>ccT	p.P655P		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	661	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						CCAAGTCCCCAGAGAAGGAAG	0.552																																																0													83	92	89					22																	29885594		2203	4300	6503	SO:0001819	synonymous_variant	4744				CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"Intermediate filaments type IV"	7737	protein-coding gene	gene with protein product		162230	"neurofilament, heavy polypeptide 200kDa"				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.1965A>T	22.37:g.29885594A>T			B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Silent	SNP	ENST00000310624.6	37	CCDS13858.1																																																																																				0.552	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		T	29885594	A	T	29885594	2	4	729	1	0	0	0	0	0	0	0	1	10316	175	7	5		5	NEFH	22	29885594	Silent	SNP	A	TCGA-KN-8423-01A-11D-2310-10		29885594	21418972	64	41032											
ENTHD1	150350	broad.mit.edu	37	22	40161248	40161248	+	Missense_Mutation	SNP	A	A	T			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr22:40161248A>T	ENST00000325157.6	-	6	1449	c.1199T>A	c.(1198-1200)aTc>aAc	p.I400N		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	400								p.I400N(1)		breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					TGTCTTGAGGATTTTATCATC	0.418																																																1	Substitution - Missense(1)	kidney(1)											89	87	88					22																	40161248		2203	4300	6503	SO:0001583	missense	150350			AK093154	CCDS13998.1	22q13.1	2006-06-26			ENSG00000176177	ENSG00000176177			26352	protein-coding gene	gene with protein product						12477932	Standard	NM_152512		Approved	FLJ25421	uc003ayg.3	Q8IYW4	OTTHUMG00000151098	ENST00000325157.6:c.1199T>A	22.37:g.40161248A>T	ENSP00000317431:p.Ile400Asn		B0QYD5|Q5H9F7|Q96LK3	Missense_Mutation	SNP	ENST00000325157.6	37	CCDS13998.1	.	.	.	.	.	.	.	.	.	.	A	1.041	-0.678824	0.03378	.	.	ENSG00000176177	ENST00000325157	T	0.42900	0.96	5.91	-1.79	0.07932	.	4.854570	0.00397	N	0.000047	T	0.17662	0.0424	N	0.02247	-0.625	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.09378	-1.0677	10	0.23302	T	0.38	0.181	4.1611	0.10284	0.2446:0.291:0.0:0.4644	.	400	Q8IYW4	ENTD1_HUMAN	N	400	ENSP00000317431:I400N	ENSP00000317431:I400N	I	-	2	0	ENTHD1	38491194	0.000000	0.05858	0.000000	0.03702	0.184000	0.23303	-1.009000	0.03660	-0.427000	0.07350	-0.339000	0.08088	ATC		0.418	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321302.1	NM_152512		T	40161248	A	T	40161248	3	4	729	1	0	0	0	0	1	0	0	0	5139	333	12	5	632	5	ENTHD1	22	40161248	Missense_Mutation	SNP	A	TCGA-KN-8423-01A-11D-2310-10	10275654	40161248	11143318	65	41033											
LOC440563	0	mdanderson.org	37	1	13183530	13183530	+	IGR	SNP	A	A	G	rs200046163		TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr1:13183530A>G								RP13-221M14.3 (19062 upstream) : PRAMEF26 (32825 downstream)																							TCCCGTTGAAAGCCATAGTCC	0.517																																																0													91	72	78					1																	13183530		692	1591	2283	SO:0001628	intergenic_variant	0																															1.37:g.13183530A>G				Missense_Mutation	SNP		37																																																																																				0	0.517									G	13183530	A	G	13183530	1	3	730	0	1	0	0	0	0	0	0	0	8881	72	3	3		3	LOC440563	1	13183530	IGR	SNP	A	TCGA-KN-8424-01A-11D-2310-10		13183530	236067091	1	41034											
ZSCAN20	7579	bcgsc.ca	37	1	33958892	33958892	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr1:33958892A>G	ENST00000361328.3	+	7	1703	c.1550A>G	c.(1549-1551)tAc>tGc	p.Y517C		NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	517					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)				AGCCAGGTGTACCGGGCCATT	0.567																																																0													45	48	47					1																	33958892		2024	4195	6219	SO:0001583	missense	7579			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.1550A>G	1.37:g.33958892A>G	ENSP00000355053:p.Tyr517Cys		A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Missense_Mutation	SNP	ENST00000361328.3	37	CCDS41300.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.005441	0.74932	.	.	ENSG00000121903	ENST00000326544;ENST00000361328;ENST00000401072	.	.	.	5.7	5.7	0.88788	SANT domain, DNA binding (1);	0.000000	0.53938	D	0.000043	T	0.81964	0.4934	M	0.90082	3.085	0.42241	D	0.991931	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.85761	0.1349	9	0.87932	D	0	-26.9717	12.6654	0.56840	1.0:0.0:0.0:0.0	.	516;517	P17040-3;P17040	.;ZSC20_HUMAN	C	517;451;451	.	ENSP00000324450:Y517C	Y	+	2	0	ZSCAN20	33731479	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.791000	0.62460	2.308000	0.77769	0.533000	0.62120	TAC		0.567	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277003.2	NM_145238		G	33958892	A	G	33958892	3	3	730	1	0	0	0	0	1	0	0	0	18237	391	14	3	1572	3	ZSCAN20	1	33958892	Missense_Mutation	SNP	A	TCGA-KN-8424-01A-11D-2310-10	20775362	33958892	215291729	2	41035											
CLCA1	1179	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	86954776	86954776	+	Missense_Mutation	SNP	A	A	T			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr1:86954776A>T	ENST00000234701.3	+	9	1631	c.1280A>T	c.(1279-1281)cAa>cTa	p.Q427L	CLCA1_ENST00000394711.1_Missense_Mutation_p.Q427L			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	427	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)		GAGGTCAAACAAAGTGGTGCC	0.478																																																0													112	105	107					1																	86954776		2203	4300	6503	SO:0001583	missense	1179				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.1280A>T	1.37:g.86954776A>T	ENSP00000234701:p.Gln427Leu		B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	Missense_Mutation	SNP	ENST00000234701.3	37	CCDS709.1	.	.	.	.	.	.	.	.	.	.	A	11.35	1.613034	0.28712	.	.	ENSG00000016490	ENST00000234701;ENST00000394711;ENST00000539889	T;T	0.15017	2.46;2.46	5.68	5.68	0.88126	von Willebrand factor, type A (3);	0.627114	0.16134	N	0.228078	T	0.16769	0.0403	M	0.73217	2.22	0.09310	N	1	B;B	0.34399	0.452;0.452	P;B	0.45913	0.497;0.428	T	0.21280	-1.0250	10	0.56958	D	0.05	-0.6591	9.4357	0.38637	0.9193:0.0:0.0807:0.0	.	427;190	A8K7I4;B4DUZ6	CLCA1_HUMAN;.	L	427;427;140	ENSP00000234701:Q427L;ENSP00000378200:Q427L	ENSP00000234701:Q427L	Q	+	2	0	CLCA1	86727364	0.002000	0.14202	0.086000	0.20670	0.092000	0.18411	1.751000	0.38339	2.152000	0.67230	0.533000	0.62120	CAA		0.478	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028277.1	NM_001285		T	86954776	A	T	86954776	3	4	730	1	0	0	0	0	1	0	0	0	3459	130	5	5	1310	5	CLCA1	1	86954776	Missense_Mutation	SNP	A	TCGA-KN-8424-01A-11D-2310-10	52995884	86954776	162295845	3	41036											
WNT2B	7482	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	113062943	113062943	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr1:113062943A>G	ENST00000369684.4	+	5	1473	c.988A>G	c.(988-990)Aaa>Gaa	p.K330E	WNT2B_ENST00000256640.5_Missense_Mutation_p.K238E|WNT2B_ENST00000369686.5_Missense_Mutation_p.K311E|RP4-671G15.2_ENST00000608357.1_RNA	NM_024494.2	NP_078613.1	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family, member 2B	330					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to starvation (GO:0009267)|chondrocyte differentiation (GO:0002062)|cornea development in camera-type eye (GO:0061303)|forebrain regionalization (GO:0021871)|hematopoietic stem cell proliferation (GO:0071425)|iris morphogenesis (GO:0061072)|lens development in camera-type eye (GO:0002088)|lung induction (GO:0060492)|male gonad development (GO:0008584)|mesenchymal-epithelial cell signaling (GO:0060638)|neuron differentiation (GO:0030182)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-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)		CAAGACATCAAAAGGAACAGA	0.537																																																0													137	105	116					1																	113062943		2203	4300	6503	SO:0001583	missense	7482			AB045116	CCDS847.1, CCDS846.1	1p13	2008-07-18			ENSG00000134245	ENSG00000134245		"Wingless-type MMTV integration sites"	12781	protein-coding gene	gene with protein product	"XWNT2, Xenopus, homolog of", "wingless-type MMTV integration site family, member 13"	601968		WNT13		8761309, 10944466	Standard	NM_024494		Approved	XWNT2	uc001ecb.3	Q93097	OTTHUMG00000011157	ENST00000369684.4:c.988A>G	1.37:g.113062943A>G	ENSP00000358698:p.Lys330Glu		O14903|Q5TEH9|Q5TEI2|Q9HDC1|Q9HDC2	Missense_Mutation	SNP	ENST00000369684.4	37	CCDS847.1	.	.	.	.	.	.	.	.	.	.	A	9.252	1.041024	0.19669	.	.	ENSG00000134245	ENST00000256640;ENST00000369686;ENST00000369684	T;T;T	0.75477	-0.94;-0.94;-0.94	5.57	4.47	0.54385	.	0.054833	0.64402	D	0.000001	T	0.33990	0.0882	L	0.31804	0.96	0.30339	N	0.785926	B;P	0.39940	0.066;0.696	B;B	0.32624	0.099;0.149	T	0.39418	-0.9615	10	0.05620	T	0.96	.	11.4493	0.50142	0.7642:0.2358:0.0:0.0	.	330;311	Q93097;Q93097-2	WNT2B_HUMAN;.	E	238;311;330	ENSP00000256640:K238E;ENSP00000358700:K311E;ENSP00000358698:K330E	ENSP00000256640:K238E	K	+	1	0	WNT2B	112864466	0.981000	0.34729	0.999000	0.59377	0.995000	0.86356	2.699000	0.47077	2.102000	0.63906	0.533000	0.62120	AAA		0.537	WNT2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030692.1	NM_004185		G	113062943	A	G	113062943	3	3	730	1	0	0	0	0	1	0	0	0	17392	15	1	3	1139	3	WNT2B	1	113062943	Missense_Mutation	SNP	A	TCGA-KN-8424-01A-11D-2310-10	26108167	113062943	136187678	4	41037											
RPTN	126638	broad.mit.edu	37	1	152127952	152127952	+	Silent	SNP	T	T	C			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr1:152127952T>C	ENST00000316073.3	-	3	1687	c.1623A>G	c.(1621-1623)caA>caG	p.Q541Q		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	541	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						AACTCTGGCCTTGTCTGTCCA	0.522																																																0													778	685	713					1																	152127952		1568	3582	5150	SO:0001819	synonymous_variant	126638			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.1623A>G	1.37:g.152127952T>C			B7ZBZ3	Silent	SNP	ENST00000316073.3	37	CCDS41397.1																																																																																				0.522	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		C	152127952	T	C	152127952	2	2	730	1	0	0	0	0	0	0	0	1	13670	1606	56	3		3	RPTN	1	152127952	Silent	SNP	T	TCGA-KN-8424-01A-11D-2310-10	39065009	152127952	97122669	5	41038											
KIRREL	55243	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	1	158056511	158056511	+	Silent	SNP	G	G	A			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr1:158056511G>A	ENST00000359209.6	+	5	703	c.636G>A	c.(634-636)gaG>gaA	p.E212E	KIRREL_ENST00000392272.2_Intron|KIRREL_ENST00000368172.1_Silent_p.E10E|KIRREL_ENST00000360089.4_Intron|KIRREL_ENST00000368173.3_Silent_p.E212E|KIRREL_ENST00000416935.2_Silent_p.E112E			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	212	Ig-like C2-type 2.				excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					GTGGCAAGGAGACTTCCATCG	0.567																																																0													116	93	100					1																	158056511		692	1591	2283	SO:0001819	synonymous_variant	55243			AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15734	protein-coding gene	gene with protein product	"nephrin-like protein 1"	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.636G>A	1.37:g.158056511G>A			Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Silent	SNP	ENST00000359209.6	37	CCDS1172.2																																																																																				0.567	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3	NM_018240		A	158056511	G	A	158056511	2	1	730	1	0	0	0	0	0	0	0	1	8326	933	33	2		2	KIRREL	1	158056511	Silent	SNP	G	TCGA-KN-8424-01A-11D-2310-10	5928559	158056511	91194110	6	41039											
OR6N2	81442	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	158746533	158746533	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr1:158746533A>G	ENST00000339258.1	-	1	892	c.893T>C	c.(892-894)aTt>aCt	p.I298T		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	298						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)					GATAGCTTTAATGATTTCCTT	0.408																																																0													169	161	164					1																	158746533		2203	4300	6503	SO:0001583	missense	81442			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.893T>C	1.37:g.158746533A>G	ENSP00000344101:p.Ile298Thr		Q6IFR2	Missense_Mutation	SNP	ENST00000339258.1	37	CCDS30906.1	.	.	.	.	.	.	.	.	.	.	A	4.818	0.152112	0.09185	.	.	ENSG00000188340	ENST00000339258	T	0.37058	1.22	4.64	4.64	0.57946	.	.	.	.	.	T	0.08670	0.0215	N	0.10916	0.065	0.27967	N	0.936542	B	0.25007	0.116	B	0.21546	0.035	T	0.14227	-1.0480	9	0.72032	D	0.01	-8.8046	7.5695	0.27898	0.8098:0.0:0.0:0.1902	.	298	Q8NGY6	OR6N2_HUMAN	T	298	ENSP00000344101:I298T	ENSP00000344101:I298T	I	-	2	0	OR6N2	157013157	0.942000	0.31987	1.000000	0.80357	0.176000	0.22953	1.575000	0.36493	1.928000	0.55862	0.528000	0.53228	ATT		0.408	OR6N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059068.1			G	158746533	A	G	158746533	3	3	730	1	0	0	0	0	1	0	0	0	11209	101	4	3	63	3	OR6N2	1	158746533	Missense_Mutation	SNP	A	TCGA-KN-8424-01A-11D-2310-10	690022	158746533	90504088	7	41040											
C1orf27	54953	ucsc.edu	37	1	186388183	186388183	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr1:186388183T>C	ENST00000287859.6	+	14	1465	c.1340T>C	c.(1339-1341)aTc>aCc	p.I447T	C1orf27_ENST00000419367.3_Missense_Mutation_p.I415T|C1orf27_ENST00000461662.1_3'UTR|C1orf27_ENST00000432021.3_Missense_Mutation_p.I424T|C1orf27_ENST00000367470.3_Missense_Mutation_p.I424T	NM_017847.5	NP_060317.3	Q5SWX8	ODR4_HUMAN	chromosome 1 open reading frame 27	447						integral component of membrane (GO:0016021)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	9						GCTGCGGGTATCTCCTTTCAT	0.363																																																0													146	126	133					1																	186388183		1914	4127	6041	SO:0001583	missense	54953			BC003397	CCDS53448.1, CCDS53449.1, CCDS53450.1	1q25	2012-06-25			ENSG00000157181	ENSG00000157181			24299	protein-coding gene	gene with protein product	"transactivated by recombinant transforming growth factor beta"	609335				12868032	Standard	NM_017847		Approved	FLJ20505, odr-4, TTG1	uc021pgj.1	Q5SWX8	OTTHUMG00000035579	ENST00000287859.6:c.1340T>C	1.37:g.186388183T>C	ENSP00000287859:p.Ile447Thr		B4DNY0|E9PFR7|Q19CC6|Q8WYB6|Q9BTS2|Q9H6A6|Q9NX06	Missense_Mutation	SNP	ENST00000287859.6	37	CCDS53448.1	.	.	.	.	.	.	.	.	.	.	T	13.84	2.356748	0.41801	.	.	ENSG00000157181	ENST00000367470;ENST00000419367;ENST00000287859	T;T	0.51325	0.71;0.71	5.39	5.39	0.77823	.	0.553136	0.17798	N	0.161668	T	0.35970	0.0950	L	0.29908	0.895	0.34646	D	0.721136	P;B;B	0.36282	0.546;0.404;0.404	B;B;B	0.32980	0.156;0.109;0.156	T	0.54807	-0.8238	10	0.72032	D	0.01	-1.0242	11.7953	0.52096	0.0:0.0:0.0:1.0	.	415;424;447	E9PFR7;Q5SWX8-2;Q5SWX8	.;.;ODR4_HUMAN	T	424;415;447	ENSP00000395084:I415T;ENSP00000287859:I447T	ENSP00000287859:I447T	I	+	2	0	C1orf27	184654806	0.998000	0.40836	0.881000	0.34555	0.682000	0.39822	3.937000	0.56575	2.046000	0.60703	0.477000	0.44152	ATC		0.363	C1orf27-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086352.2	NM_017847		C	186388183	T	C	186388183	3	2	730	1	0	0	0	0	1	0	0	0	2038	1435	50	3	1390	3	C1orf27	1	186388183	Missense_Mutation	SNP	T	TCGA-KN-8424-01A-11D-2310-10	27641650	186388183	62862438	8	41041											
KLHL12	59349	bcgsc.ca	37	1	202888918	202888918	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr1:202888918T>C	ENST00000367261.3	-	3	532	c.314A>G	c.(313-315)gAa>gGa	p.E105G	KLHL12_ENST00000435533.3_Missense_Mutation_p.E143G	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	105					COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|protein monoubiquitination (GO:0006513)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|ER to Golgi transport vesicle (GO:0030134)|Golgi membrane (GO:0000139)				NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			AGGAAGCAGTTCTTGTACATT	0.388																																																0													97	84	89					1																	202888918		2203	4300	6503	SO:0001583	missense	59349			AF190900	CCDS1429.1	1q32.1	2013-01-30	2013-01-30		ENSG00000117153	ENSG00000117153		"Kelch-like", "BTB/POZ domain containing"	19360	protein-coding gene	gene with protein product		614522	"kelch-like 12 (Drosophila)"			12477932	Standard	NM_021633		Approved	C3IP1	uc001gyo.1	Q53G59	OTTHUMG00000041385	ENST00000367261.3:c.314A>G	1.37:g.202888918T>C	ENSP00000356230:p.Glu105Gly		A6NEN8|B7Z7B8|Q9HBX5	Missense_Mutation	SNP	ENST00000367261.3	37	CCDS1429.1	.	.	.	.	.	.	.	.	.	.	T	18.75	3.690626	0.68271	.	.	ENSG00000117153	ENST00000367261;ENST00000435533;ENST00000367258	T;T;T	0.71341	-0.56;-0.56;-0.56	5.55	5.55	0.83447	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.71484	0.3345	N	0.14661	0.345	0.80722	D	1	B;D;D	0.62365	0.026;0.991;0.991	B;D;D	0.74023	0.036;0.982;0.982	T	0.70579	-0.4833	10	0.25106	T	0.35	.	15.9826	0.80125	0.0:0.0:0.0:1.0	.	143;143;105	B7Z7B8;A6NEN8;Q53G59	.;.;KLH12_HUMAN	G	105;143;143	ENSP00000356230:E105G;ENSP00000416886:E143G;ENSP00000356227:E143G	ENSP00000356227:E143G	E	-	2	0	KLHL12	201155541	1.000000	0.71417	0.957000	0.39632	0.975000	0.68041	8.040000	0.89188	2.235000	0.73313	0.460000	0.39030	GAA		0.388	KLHL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099151.1	NM_021633		C	202888918	T	C	202888918	3	2	730	1	0	0	0	0	1	0	0	0	8370	1783	62	3	1432	3	KLHL12	1	202888918	Missense_Mutation	SNP	T	TCGA-KN-8424-01A-11D-2310-10	16500735	202888918	46361703	9	41042											
MARCO	8685	broad.mit.edu;ucsc.edu;mdanderson.org	37	2	119731958	119731958	+	Silent	SNP	G	G	A	rs140866852	byFrequency	TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr2:119731958G>A	ENST00000327097.4	+	5	645	c.510G>A	c.(508-510)ccG>ccA	p.P170P	MARCO_ENST00000541757.1_Silent_p.P92P	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	170	Collagen-like.				apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						CCCCTGGCCCGCCGGGACCAC	0.567													G|||	2	0.000399361	0.0	0.0	5008	,	,		18864	0.001		0.001	False		,,,				2504	0.0				GBM(8;18 374 7467 11269 32796)											0								G		1,4401	2.1+/-5.4	0,1,2200	63	67	66		510	-1.4	0	2	dbSNP_134	66	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MARCO	NM_006770.3		0,2,6499	AA,AG,GG		0.0116,0.0227,0.0154		170/521	119731958	2,13000	2201	4300	6501	SO:0001819	synonymous_variant	8685			AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"scavenger receptor class A, member 2"	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.510G>A	2.37:g.119731958G>A			B4DW79|Q9Y5S3	Silent	SNP	ENST00000327097.4	37	CCDS2124.1																																																																																				0.567	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254190.2	NM_006770		A	119731958	G	A	119731958	2	1	730	1	0	0	0	0	0	0	0	1	9313	1074	38	1		1	MARCO	2	119731958	Silent	SNP	G	TCGA-KN-8424-01A-11D-2310-10		119731958	123467415	10	41043											
LRP2	4036	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	170060758	170060758	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr2:170060758A>G	ENST00000263816.3	-	42	8024	c.7739T>C	c.(7738-7740)cTg>cCg	p.L2580P		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2580					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)"	CACGCCCGTCAGAGTGCTGCG	0.428																																																0													135	143	140					2																	170060758		2203	4300	6503	SO:0001583	missense	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.7739T>C	2.37:g.170060758A>G	ENSP00000263816:p.Leu2580Pro		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	A	18.52	3.642492	0.67244	.	.	ENSG00000081479	ENST00000263816	D	0.97598	-4.45	5.78	4.62	0.57501	Six-bladed beta-propeller, TolB-like (1);	0.139853	0.48767	N	0.000164	D	0.98495	0.9498	M	0.91196	3.185	0.80722	D	1	D	0.71674	0.998	D	0.71414	0.973	D	0.98688	1.0695	10	0.72032	D	0.01	.	11.4806	0.50322	0.93:0.0:0.07:0.0	.	2580	P98164	LRP2_HUMAN	P	2580	ENSP00000263816:L2580P	ENSP00000263816:L2580P	L	-	2	0	LRP2	169769004	1.000000	0.71417	0.164000	0.22755	0.683000	0.39861	6.331000	0.72929	1.019000	0.39547	0.533000	0.62120	CTG		0.428	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		G	170060758	A	G	170060758	3	3	730	1	0	0	0	0	1	0	0	0	8958	188	7	3	6380	3	LRP2	2	170060758	Missense_Mutation	SNP	A	TCGA-KN-8424-01A-11D-2310-10	50328800	170060758	73138615	11	41044											
TTN	7273	broad.mit.edu	37	2	179497287	179497287	+	Silent	SNP	T	T	C			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr2:179497287T>C	ENST00000591111.1	-	185	38747	c.38523A>G	c.(38521-38523)gaA>gaG	p.E12841E	TTN_ENST00000589042.1_Silent_p.E14482E|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.E5542E|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Silent_p.E5609E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.E5417E|TTN_ENST00000342992.6_Silent_p.E11914E|TTN-AS1_ENST00000589487.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12841	Ig-like 85.				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)			TGTGCTTATCTTCAGCTTCAA	0.343																																																0													112	109	110					2																	179497287		1915	4116	6031	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.38523A>G	2.37:g.179497287T>C			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					0.343	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		C	179497287	T	C	179497287	2	2	730	1	0	0	0	0	0	0	0	1	16740	1606	56	3		3	TTN	2	179497287	Silent	SNP	T	TCGA-KN-8424-01A-11D-2310-10	9436529	179497287	63702086	12	41045											
ERBB4	2066	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	212578299	212578299	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr2:212578299T>C	ENST00000342788.4	-	8	1268	c.958A>G	c.(958-960)Att>Gtt	p.I320V	ERBB4_ENST00000402597.1_Missense_Mutation_p.I320V|ERBB4_ENST00000436443.1_Missense_Mutation_p.I320V	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	320	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)	p.I320F(1)		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)	CACATTTTAATCCCATTTTCT	0.358										TSP Lung(8;0.080)																																						1	Substitution - Missense(1)	endometrium(1)											135	131	132					2																	212578299		2203	4300	6503	SO:0001583	missense	2066			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.958A>G	2.37:g.212578299T>C	ENSP00000342235:p.Ile320Val		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	T	4.757	0.140806	0.09083	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	T;T;T	0.27890	1.64;1.64;1.64	5.57	5.57	0.84162	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.092812	0.64402	D	0.000001	T	0.15998	0.0385	N	0.11000	0.08	0.52099	D	0.999942	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.001;0.0;0.001;0.001;0.001	T	0.08166	-1.0735	10	0.02654	T	1	.	15.7821	0.78269	0.0:0.0:0.0:1.0	.	320;320;179;320;320	Q15303-4;Q15303-2;Q53QS8;Q15303-3;Q15303	.;.;.;.;ERBB4_HUMAN	V	320	ENSP00000342235:I320V;ENSP00000403204:I320V;ENSP00000385565:I320V	ENSP00000342235:I320V	I	-	1	0	ERBB4	212286544	1.000000	0.71417	0.984000	0.44739	0.989000	0.77384	6.285000	0.72658	2.129000	0.65627	0.529000	0.55759	ATT		0.358	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		C	212578299	T	C	212578299	3	2	730	1	0	0	0	0	1	0	0	0	5211	1435	50	3	3052	3	ERBB4	2	212578299	Missense_Mutation	SNP	T	TCGA-KN-8424-01A-11D-2310-10	33081012	212578299	30621074	13	41046											
ALPPL2	251	mdanderson.org	37	2	233271799	233271799	+	Missense_Mutation	SNP	C	C	G	rs146369944	byFrequency	TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr2:233271799C>G	ENST00000295453.3	+	2	152	c.100C>G	c.(100-102)Cag>Gag	p.Q34E		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	34			Q -> E (in dbSNP:rs1048983).		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)	CTGGAACCGCCAGGCAGCCGA	0.642																																																0													63	78	73					2																	233271799		2203	4300	6503	SO:0001583	missense	251			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.100C>G	2.37:g.233271799C>G	ENSP00000295453:p.Gln34Glu		A8KAF2|Q16727|Q53S81|Q96CM1	Missense_Mutation	SNP	ENST00000295453.3	37	CCDS2491.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.848184	0.00563	.	.	ENSG00000163286	ENST00000295453	T	0.37411	1.2	2.19	-0.276	0.12902	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.518247	0.21905	N	0.067388	T	0.33585	0.0868	M	0.84846	2.72	0.09310	N	1	B	0.17852	0.024	B	0.14023	0.01	T	0.30119	-0.9989	10	0.36615	T	0.2	.	2.4239	0.04455	0.2975:0.4607:0.1215:0.1203	rs1048983;rs3189046	34	P10696	PPBN_HUMAN	E	34	ENSP00000295453:Q34E	ENSP00000295453:Q34E	Q	+	1	0	ALPPL2	232980043	0.000000	0.05858	0.003000	0.11579	0.021000	0.10359	-0.050000	0.11904	-0.074000	0.12820	0.205000	0.17691	CAG		0.642	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257034.2	NM_031313		G	233271799	C	G	233271799	3	3	730	1	0	0	0	0	1	0	0	0	549	595	21	4	106	4	ALPPL2	2	233271799	Missense_Mutation	SNP	C	TCGA-KN-8424-01A-11D-2310-10	20693500	233271799	9927574	14	41047											
CAPN10	11132	mdanderson.org	37	2	241526428	241526428	+	Missense_Mutation	SNP	C	C	G	rs138005500	byFrequency	TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr2:241526428C>G	ENST00000391984.2	+	1	296	c.100C>G	c.(100-102)Ctg>Gtg	p.L34V	CAPN10_ENST00000354082.4_Missense_Mutation_p.L34V|CAPN10_ENST00000404753.3_Missense_Mutation_p.L34V|CAPN10_ENST00000391982.2_Missense_Mutation_p.L34V|CAPN10-AS1_ENST00000567819.1_RNA|CAPN10_ENST00000270364.7_Missense_Mutation_p.L34V|CAPN10_ENST00000352879.4_Missense_Mutation_p.L34V	NM_023083.3	NP_075571	Q9HC96	CAN10_HUMAN	calpain 10	34	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)		GTCTACGCCGCTGGCCCAGTT	0.726													C|||	18	0.00359425	0.0	0.0014	5008	,	,		11190	0.0		0.0169	False		,,,				2504	0.0															0								C	VAL/LEU,VAL/LEU	4,4070		0,4,2033	5	5	5		100,100	2.5	1	2	dbSNP_134	5	46,8054		0,46,4004	yes	missense,missense	CAPN10	NM_023083.3,NM_023085.3	32,32	0,50,6037	GG,GC,CC		0.5679,0.0982,0.4107	probably-damaging,probably-damaging	34/673,34/518	241526428	50,12124	2037	4050	6087	SO:0001583	missense	11132			AF089088	CCDS33420.1, CCDS42838.1	2q37.3	2008-05-22			ENSG00000142330	ENSG00000142330			1477	protein-coding gene	gene with protein product		605286				11017071, 11018080	Standard	NM_023083		Approved		uc002vzk.2	Q9HC96	OTTHUMG00000133358	ENST00000391984.2:c.100C>G	2.37:g.241526428C>G	ENSP00000375844:p.Leu34Val		A8MVS7|Q4ZFV1|Q8NCD4|Q96IG4|Q96JI2|Q9HC89|Q9HC90|Q9HC91|Q9HC92|Q9HC93|Q9HC94|Q9HC95	Missense_Mutation	SNP	ENST00000391984.2	37	CCDS42838.1	20	0.009157509157509158	2	0.0040650406504065045	1	0.0027624309392265192	0	0.0	17	0.022427440633245383	C	14.30	2.493770	0.44352	9.82E-4	0.005679	ENSG00000142330	ENST00000391984;ENST00000391982;ENST00000404753;ENST00000270364;ENST00000352879;ENST00000354082	T;T;T;T;T;T	0.42513	2.39;2.39;2.39;0.97;0.97;2.39	3.44	2.55	0.30701	Peptidase C2, calpain, catalytic domain (3);	0.273086	0.30704	N	0.009053	T	0.29491	0.0735	L	0.42581	1.335	0.41081	D	0.985527	D;P;D;D;P	0.69078	0.997;0.909;0.987;0.994;0.955	D;P;P;P;P	0.66196	0.942;0.455;0.735;0.904;0.843	T	0.24012	-1.0172	10	0.17369	T	0.5	.	6.6983	0.23211	0.0:0.8657:0.0:0.1343	.	34;34;34;34;34	B7Z6G3;Q9HC96-7;Q9HC96-8;Q9HC96-3;Q9HC96	.;.;.;.;CAN10_HUMAN	V	34	ENSP00000375844:L34V;ENSP00000375842:L34V;ENSP00000384422:L34V;ENSP00000270364:L34V;ENSP00000289381:L34V;ENSP00000270362:L34V	ENSP00000270361:L34V	L	+	1	2	CAPN10	241175101	0.818000	0.29161	1.000000	0.80357	0.952000	0.60782	1.288000	0.33296	0.655000	0.30866	0.655000	0.94253	CTG		0.726	CAPN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257191.3	NM_023083		G	241526428	C	G	241526428	3	3	730	1	0	0	0	0	1	0	0	0	2625	796	28	4	102	4	CAPN10	2	241526428	Missense_Mutation	SNP	C	TCGA-KN-8424-01A-11D-2310-10	8254629	241526428	1672945	15	41048											
ZNF385D	79750	bcgsc.ca	37	3	21462711	21462711	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr3:21462711A>G	ENST00000281523.2	-	8	1701	c.1183T>C	c.(1183-1185)Tac>Cac	p.Y395H		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	395						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						GGAATTTAGTAAGGAGCAAAC	0.428																																																0													32	31	31					3																	21462711		2203	4300	6503	SO:0001583	missense	79750			BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"zinc finger protein 659"	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.1183T>C	3.37:g.21462711A>G	ENSP00000281523:p.Tyr395His			Missense_Mutation	SNP	ENST00000281523.2	37	CCDS2636.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.117711	0.77323	.	.	ENSG00000151789	ENST00000281523	T	0.63913	-0.07	5.95	5.95	0.96441	.	0.060077	0.64402	D	0.000002	T	0.75140	0.3809	L	0.59436	1.845	0.58432	D	0.99999	D	0.76494	0.999	D	0.63597	0.916	T	0.77539	-0.2550	10	0.87932	D	0	-40.5365	16.4044	0.83654	1.0:0.0:0.0:0.0	.	395	Q9H6B1	Z385D_HUMAN	H	395	ENSP00000281523:Y395H	ENSP00000281523:Y395H	Y	-	1	0	ZNF385D	21437715	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	9.284000	0.95882	2.273000	0.75805	0.455000	0.32223	TAC		0.428	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	NM_024697		G	21462711	A	G	21462711	3	3	730	1	0	0	0	0	1	0	0	0	17883	362	13	3	8	3	ZNF385D	3	21462711	Missense_Mutation	SNP	A	TCGA-KN-8424-01A-11D-2310-10		21462711	176559719	16	41049											
XYLB	9942	hgsc.bcm.edu;mdanderson.org	37	3	38388378	38388378	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr3:38388378C>T	ENST00000207870.3	+	1	109	c.19C>T	c.(19-21)Cgc>Tgc	p.R7C	XYLB_ENST00000427323.1_Missense_Mutation_p.R7C|XYLB_ENST00000542835.1_5'UTR	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)	7					carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|D-xylose metabolic process (GO:0042732)|generation of precursor metabolites and energy (GO:0006091)|xylulose catabolic process (GO:0005998)|xylulose metabolic process (GO:0005997)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|xylulokinase activity (GO:0004856)			endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		GCACGCCCCTCGCCGCTGCTG	0.736																																																0													8	10	10					3																	38388378		2105	4150	6255	SO:0001583	missense	9942			AB015046	CCDS2678.1	3p22-p21.3	2006-12-18	2001-12-04		ENSG00000093217	ENSG00000093217			12839	protein-coding gene	gene with protein product		604049	"xylulokinase (H. influenzae) homolog"			9763671	Standard	NM_005108		Approved	FLJ10343, FLJ12539	uc003cic.2	O75191	OTTHUMG00000131294	ENST00000207870.3:c.19C>T	3.37:g.38388378C>T	ENSP00000207870:p.Arg7Cys		B2RAW4|B4DDT2|B9EH64	Missense_Mutation	SNP	ENST00000207870.3	37	CCDS2678.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.446699	0.63178	.	.	ENSG00000093217	ENST00000427323;ENST00000207870	T	0.14893	2.47	3.55	1.66	0.24008	.	1.030270	0.07717	N	0.942921	T	0.18087	0.0434	L	0.38175	1.15	0.20873	N	0.999831	D	0.69078	0.997	P	0.49502	0.613	T	0.18618	-1.0331	10	0.59425	D	0.04	.	4.5237	0.11971	0.0:0.641:0.2321:0.1269	.	7	O75191	XYLB_HUMAN	C	7	ENSP00000207870:R7C	ENSP00000207870:R7C	R	+	1	0	XYLB	38363382	0.091000	0.21658	0.003000	0.11579	0.185000	0.23345	1.371000	0.34250	0.450000	0.26774	0.650000	0.86243	CGC		0.736	XYLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254062.2	NM_005108		T	38388378	C	T	38388378	3	4	730	1	0	0	0	0	1	0	0	0	17467	884	31	1	21	1	XYLB	3	38388378	Missense_Mutation	SNP	C	TCGA-KN-8424-01A-11D-2310-10	16925667	38388378	159634052	17	41050											
VPRBP	9730	broad.mit.edu;mdanderson.org	37	3	51475088	51475088	+	Intron	SNP	C	C	T			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr3:51475088C>T	ENST00000335891.5	-	6	682							Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein						B cell differentiation (GO:0030183)|cell competition in a multicellular organism (GO:0035212)|histone H2A-T120 phosphorylation (GO:1990245)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H2A-T120 specific) (GO:1990244)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		TGGGAAGTAGCTGAAATGAAC	0.378																																																0													55	52	53					3																	51475088		1907	4116	6023	SO:0001627	intron_variant	9730			AB018343	CCDS74943.1, CCDS74944.1	3p21.2	2011-06-17			ENSG00000145041	ENSG00000145041		"DDB1 and CUL4 associated factors"	30911	protein-coding gene	gene with protein product	"DDB1 and CUL4 associated factor 1"					8195203, 11223251	Standard	NM_014703		Approved	KIAA0800, MGC102804, DCAF1	uc003dbe.2	Q9Y4B6	OTTHUMG00000156895	ENST00000335891.5:c.672+666G>A	3.37:g.51475088C>T			Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Splice_Site	SNP	ENST00000335891.5	37		.	.	.	.	.	.	.	.	.	.	C	27.9	4.874099	0.91664	.	.	ENSG00000145041	ENST00000504652	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	VPRBP	51450128	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.270000	0.78493	2.941000	0.99782	0.655000	0.94253	.		0.378	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014703		T	51475088	C	T	51475088	1	4	730	0	1	0	0	0	0	0	0	0	17190	811	28	2		2	VPRBP	3	51475088	Intron	SNP	C	TCGA-KN-8424-01A-11D-2310-10	13086710	51475088	146547342	18	41051											
ALAS1	211	broad.mit.edu	37	3	52233380	52233380	+	Silent	SNP	C	C	A	rs182395582		TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr3:52233380C>A	ENST00000394965.2	+	3	483	c.123C>A	c.(121-123)gcC>gcA	p.A41A	ALAS1_ENST00000310271.2_Silent_p.A41A|ALAS1_ENST00000469224.1_Silent_p.A41A|ALAS1_ENST00000484952.1_Silent_p.A41A	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	41					cellular lipid metabolic process (GO:0044255)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	5-aminolevulinate synthase activity (GO:0003870)|pyridoxal phosphate binding (GO:0030170)			endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)	AAGTTGGGGCCAAGCCAGCCC	0.527																																																0													59	56	57					3																	52233380		2203	4300	6503	SO:0001819	synonymous_variant	211			X56351	CCDS2847.1	3p21	2004-11-18			ENSG00000023330	ENSG00000023330	2.3.1.37		396	protein-coding gene	gene with protein product		125290		ALAS3, ALAS			Standard	NM_000688		Approved		uc003dcz.2	P13196	OTTHUMG00000158108	ENST00000394965.2:c.123C>A	3.37:g.52233380C>A				Silent	SNP	ENST00000394965.2	37	CCDS2847.1																																																																																				0.527	ALAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350207.1			A	52233380	C	A	52233380	2	1	730	1	0	0	0	0	0	0	0	1	484	581	21	4		4	ALAS1	3	52233380	Silent	SNP	C	TCGA-KN-8424-01A-11D-2310-10	758292	52233380	145789050	19	41052											
FAM194A	131831	broad.mit.edu	37	3	150421569	150421569	+	Silent	SNP	T	T	C			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr3:150421569T>C	ENST00000295910.6	-	1	169	c.117A>G	c.(115-117)gaA>gaG	p.E39E	FAM194A_ENST00000491361.1_Intron|RP11-103G8.2_ENST00000471093.1_RNA|RP11-103G8.2_ENST00000475393.1_RNA	NM_152394.3	NP_689607.2												p.E39E(1)		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						cctccacctcttcctcctcct	0.627																																																1	Substitution - coding silent(1)	prostate(1)											92	78	83					3																	150421569		2203	4298	6501	SO:0001819	synonymous_variant	131831																														ENST00000295910.6:c.117A>G	3.37:g.150421569T>C				Silent	SNP	ENST00000295910.6	37	CCDS3151.2																																																																																				0.627	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257666.1			C	150421569	T	C	150421569	2	2	730	1	0	0	0	0	0	0	0	1	5528	1606	56	3		3	FAM194A	3	150421569	Silent	SNP	T	TCGA-KN-8424-01A-11D-2310-10	98188189	150421569	47600861	20	41053											
EIF4G1	1981	broad.mit.edu	37	3	184035256	184035256	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr3:184035256T>C	ENST00000346169.2	+	5	566	c.295T>C	c.(295-297)Tcc>Ccc	p.S99P	EIF4G1_ENST00000441154.1_5'Flank|EIF4G1_ENST00000392537.2_Missense_Mutation_p.S12P|EIF4G1_ENST00000342981.4_Missense_Mutation_p.S99P|EIF4G1_ENST00000382330.3_Missense_Mutation_p.S106P|EIF4G1_ENST00000434061.2_5'Flank|EIF4G1_ENST00000411531.1_Missense_Mutation_p.S59P|EIF4G1_ENST00000350481.5_Intron|EIF4G1_ENST00000352767.3_Missense_Mutation_p.S106P|EIF4G1_ENST00000424196.1_Missense_Mutation_p.S106P|EIF4G1_ENST00000319274.6_Missense_Mutation_p.S99P|EIF4G1_ENST00000427845.1_Missense_Mutation_p.S12P|EIF4G1_ENST00000414031.1_Missense_Mutation_p.S59P|EIF2B5_ENST00000444495.1_Intron	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	99					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)			CTACCCAGCCTCCCAGGGGGC	0.612																																																0													48	54	52					3																	184035256		2203	4300	6503	SO:0001583	missense	1981			D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"Parkinson disease"	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.295T>C	3.37:g.184035256T>C	ENSP00000316879:p.Ser99Pro		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	T	11.11	1.542841	0.27563	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000450424;ENST00000421110;ENST00000382330;ENST00000455679;ENST00000440448;ENST00000352767;ENST00000427141;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000456033;ENST00000411531	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.37411	2.09;2.09;1.2;2.09;2.09;2.09;1.2;1.2;2.09;1.2;1.2;2.09;2.09;2.09;1.2;2.09	5.08	5.08	0.68730	.	0.514295	0.20823	N	0.085028	T	0.19087	0.0458	N	0.11673	0.155	0.50632	D	0.99988	B;B;B	0.12630	0.006;0.006;0.006	B;B;B	0.09377	0.004;0.004;0.004	T	0.06481	-1.0824	10	0.06099	T	0.92	-13.2414	15.0055	0.71510	0.0:0.0:0.0:1.0	.	106;99;99	E9PFM1;D3DNT2;Q04637	.;.;IF4G1_HUMAN	P	99;59;12;99;106;106;59;99;106;66;12;99;99;106;59;59	ENSP00000316879:S99P;ENSP00000391935:S59P;ENSP00000376320:S12P;ENSP00000391412:S99P;ENSP00000413159:S106P;ENSP00000371767:S106P;ENSP00000415842:S59P;ENSP00000407240:S99P;ENSP00000338020:S106P;ENSP00000411214:S66P;ENSP00000407682:S12P;ENSP00000343450:S99P;ENSP00000323737:S99P;ENSP00000416255:S106P;ENSP00000415943:S59P;ENSP00000395974:S59P	ENSP00000323737:S99P	S	+	1	0	EIF4G1	185517950	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.037000	0.64170	2.133000	0.65898	0.533000	0.62120	TCC		0.612	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		C	184035256	T	C	184035256	3	2	730	1	0	0	0	0	1	0	0	0	5038	1551	54	3	305	3	EIF4G1	3	184035256	Missense_Mutation	SNP	T	TCGA-KN-8424-01A-11D-2310-10	33613687	184035256	13987174	21	41054											
SHROOM3	57619	mdanderson.org	37	4	77662125	77662125	+	Silent	SNP	C	C	T	rs36036308	byFrequency	TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr4:77662125C>T	ENST00000296043.6	+	5	3752	c.2799C>T	c.(2797-2799)tcC>tcT	p.S933S		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	933	ASD1. {ECO:0000255|PROSITE- ProRule:PRU00637}.				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)			ACGCACAGTCCCGTGTCTTGG	0.721													C|||	187	0.0373403	0.031	0.0375	5008	,	,		11231	0.004		0.0895	False		,,,				2504	0.0266															0								C		133,4161		2,129,2016	9	10	10		2799	2.3	1	4	dbSNP_126	10	719,7635		31,657,3489	no	coding-synonymous	SHROOM3	NM_020859.3		33,786,5505	TT,TC,CC		8.6067,3.0973,6.7362		933/1997	77662125	852,11796	2147	4177	6324	SO:0001819	synonymous_variant	57619			AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.2799C>T	4.37:g.77662125C>T			Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Silent	SNP	ENST00000296043.6	37	CCDS3579.2																																																																																				0.721	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		T	77662125	C	T	77662125	2	4	730	1	0	0	0	0	0	0	0	1	14301	610	22	2		2	SHROOM3	4	77662125	Silent	SNP	C	TCGA-KN-8424-01A-11D-2310-10		77662125	113492151	22	41055											
GZMK	3003	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	5	54329718	54329718	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr5:54329718G>A	ENST00000231009.2	+	5	829	c.759G>A	c.(757-759)tgG>tgA	p.W253*	CTD-2313F11.1_ENST00000609792.1_RNA|CTD-2313F11.1_ENST00000595218.1_RNA|CTD-2313F11.1_ENST00000596137.1_RNA|CTD-2313F11.1_ENST00000609699.1_RNA	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN	granzyme K (granzyme 3; tryptase II)	253	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			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)				ACCAGACTTGGATCAAAAGCA	0.408																																																0													105	98	100					5																	54329718		2203	4300	6503	SO:0001587	stop_gained	3003			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.759G>A	5.37:g.54329718G>A	ENSP00000231009:p.Trp253*		B2R563	Nonsense_Mutation	SNP	ENST00000231009.2	37	CCDS3964.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.378106	0.82682	.	.	ENSG00000113088	ENST00000231009	.	.	.	4.84	3.93	0.45458	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.1296	0.53936	0.0:0.0:0.8272:0.1728	.	.	.	.	X	253	.	ENSP00000231009:W253X	W	+	3	0	GZMK	54365475	1.000000	0.71417	0.999000	0.59377	0.817000	0.46193	4.997000	0.63921	1.302000	0.44855	0.655000	0.94253	TGG		0.408	GZMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214098.1	NM_002104		A	54329718	G	A	54329718	4	1	730	1	0	0	0	0	0	1	0	0	6920	1183	41	2	777	2	GZMK	5	54329718	Nonsense_Mutation	SNP	G	TCGA-KN-8424-01A-11D-2310-10		54329718	126585542	23	41056											
PCDHA8	56140	mdanderson.org	37	5	140222641	140222641	+	Missense_Mutation	SNP	A	A	G	rs6580012	byFrequency	TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr5:140222641A>G	ENST00000531613.1	+	1	1735	c.1735A>G	c.(1735-1737)Aag>Gag	p.K579E	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.K579E|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	579			K -> E (in dbSNP:rs6580012).		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)			CGCAGCGAGCAAGCTGGTGCC	0.677													.|||	2882	0.575479	0.7345	0.562	5008	,	,		14758	0.5268		0.4911	False		,,,				2504	0.5072															0								G	,,,,,,,GLU/LYS,,,GLU/LYS	3133,1257		1169,795,231	52	57	55		,,,,,,,1735,,,1735	0.4	0	5	dbSNP_116	55	4023,4497		1149,1725,1386	no	intron,intron,intron,intron,intron,intron,intron,missense,intron,intron,missense	PCDHA8,PCDHA7,PCDHA6,PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,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_031856.1	,,,,,,,56,,,56	2318,2520,1617	GG,GA,AA		47.2183,28.6333,44.5701	,,,,,,,,,,	,,,,,,,579/951,,,579/815	140222641	7156,5754	2195	4260	6455	SO:0001583	missense	56140			AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"Cadherins / Protocadherins : Clustered"	8674	other	complex locus constituent	"KIAA0345-like 6"	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1735A>G	5.37:g.140222641A>G	ENSP00000434655:p.Lys579Glu		B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	CCDS54919.1	1207	0.5526556776556777	350	0.7113821138211383	184	0.5082872928176796	302	0.527972027972028	371	0.4894459102902375	G	1.084	-0.665977	0.03428	0.713667	0.472183	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.19806	2.12;2.12	3.49	0.381	0.16228	Cadherin-like (1);	0.000000	0.36932	N	0.002335	T	0.00012	0.0000	N	0.00926	-1.1	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34750	-0.9816	9	0.02654	T	1	.	6.1288	0.20194	0.2432:0.4246:0.3322:0.0	rs6580012;rs17844319	579;579	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	E	579	ENSP00000434655:K579E;ENSP00000367363:K579E	ENSP00000367363:K579E	K	+	1	0	PCDHA8	140202825	0.192000	0.23301	0.000000	0.03702	0.029000	0.11900	1.550000	0.36223	-0.581000	0.05937	-0.665000	0.03846	AAG		0.677	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		G	140222641	A	G	140222641	3	3	730	1	0	0	0	0	1	0	0	0	11532	131	5	3	1737	3	PCDHA8	5	140222641	Missense_Mutation	SNP	A	TCGA-KN-8424-01A-11D-2310-10	85892923	140222641	40692619	24	41057											
PCDHA10	56139	bcgsc.ca	37	5	140236871	140236871	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr5:140236871A>G	ENST00000307360.5	+	1	1238	c.1238A>G	c.(1237-1239)gAc>gGc	p.D413G	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.D413G|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	413	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)	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)			AGCGCTCTGGACCGCGAGAGG	0.647																																																0													139	126	130					5																	140236871		2197	4274	6471	SO:0001583	missense	56139			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.1238A>G	5.37:g.140236871A>G	ENSP00000304234:p.Asp413Gly		A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	A	15.02	2.708210	0.48412	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.65178	-0.14;-0.14	3.96	3.96	0.45880	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.87144	0.6104	H	0.99117	4.435	0.44234	D	0.997076	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	0.993;0.975;1.0	D	0.91942	0.5564	9	0.87932	D	0	.	13.3507	0.60601	1.0:0.0:0.0:0.0	.	413;413;413	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	G	413	ENSP00000421030:D413G;ENSP00000304234:D413G	ENSP00000304234:D413G	D	+	2	0	PCDHA10	140217055	1.000000	0.71417	0.998000	0.56505	0.288000	0.27193	8.817000	0.91985	1.790000	0.52503	0.454000	0.30748	GAC		0.647	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		G	140236871	A	G	140236871	3	3	730	1	0	0	0	0	1	0	0	0	11522	275	10	3	1240	3	PCDHA10	5	140236871	Missense_Mutation	SNP	A	TCGA-KN-8424-01A-11D-2310-10	14230	140236871	40678389	25	41058											
STC2	8614	broad.mit.edu	37	5	172750382	172750382	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	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																																																0													37	33	34					5																	172750382		2203	4300	6503	SO:0001583	missense	8614			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			Missense_Mutation	SNP	ENST00000265087.4	37	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		T	172750382	G	T	172750382	3	4	730	1	0	0	0	0	1	0	0	0	15281	1319	46	4	570	4	STC2	5	172750382	Missense_Mutation	SNP	G	TCGA-KN-8424-01A-11D-2310-10	32513511	172750382	8164878	26	41059											
DSP	1832	ucsc.edu	37	6	7572208	7572208	+	Missense_Mutation	SNP	A	A	G	rs151049942	byFrequency	TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr6:7572208A>G	ENST00000379802.3	+	15	2378	c.2037A>G	c.(2035-2037)atA>atG	p.I679M	DSP_ENST00000418664.2_Missense_Mutation_p.I679M	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	679	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)		GCAGGCAGATAGAGCACTGCG	0.448													A|||	2	0.000399361	0.0015	0.0	5008	,	,		18185	0.0		0.0	False		,,,				2504	0.0															0								A	MET/ILE,MET/ILE	3,4403	6.2+/-15.9	0,3,2200	87	82	84		2037,2037	0.6	1	6	dbSNP_134	84	0,8600		0,0,4300	no	missense,missense	DSP	NM_001008844.1,NM_004415.2	10,10	0,3,6500	GG,GA,AA		0.0,0.0681,0.0231	benign,benign	679/2273,679/2872	7572208	3,13003	2203	4300	6503	SO:0001583	missense	1832			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.2037A>G	6.37:g.7572208A>G	ENSP00000369129:p.Ile679Met		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	A	11.93	1.784966	0.31593	6.81E-4	0.0	ENSG00000096696	ENST00000379802;ENST00000418664;ENST00000397483	T;T	0.74632	-0.52;-0.86	5.58	0.632	0.17705	.	0.298544	0.33712	N	0.004626	T	0.32071	0.0817	N	0.14661	0.345	0.30376	N	0.782447	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.10941	-1.0608	10	0.52906	T	0.07	.	5.9683	0.19338	0.3601:0.0:0.5018:0.1381	.	726;679	Q4LE79;P15924	.;DESP_HUMAN	M	679;679;484	ENSP00000369129:I679M;ENSP00000396591:I679M	ENSP00000369129:I679M	I	+	3	3	DSP	7517207	0.987000	0.35691	0.998000	0.56505	0.962000	0.63368	-0.028000	0.12350	0.042000	0.15717	-0.472000	0.04984	ATA		0.448	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		G	7572208	A	G	7572208	3	3	730	1	0	0	0	0	1	0	0	0	4783	410	15	3	2095	3	DSP	6	7572208	Missense_Mutation	SNP	A	TCGA-KN-8424-01A-11D-2310-10		7572208	163542859	27	41060											
MDC1	9656	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	6	30672144	30672144	+	Missense_Mutation	SNP	C	C	A			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr6:30672144C>A	ENST00000376406.3	-	10	5463	c.4816G>T	c.(4816-4818)Gtc>Ttc	p.V1606F	MDC1_ENST00000376405.2_Missense_Mutation_p.V1342F|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1606	Interaction with the PRKDC complex.				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						GGGGTCTTGACAGAGGACCTA	0.602								Other conserved DNA damage response genes																																								0													118	130	126					6																	30672144		2203	4300	6503	SO:0001583	missense	9656			D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.4816G>T	6.37:g.30672144C>A	ENSP00000365588:p.Val1606Phe		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	ENST00000376406.3	37	CCDS34384.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.490343	0.44249	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	T;T	0.11821	2.74;2.74	3.4	1.48	0.22813	.	1.326470	0.05791	N	0.610382	T	0.16085	0.0387	M	0.64997	1.995	0.09310	N	1	D;D	0.71674	0.998;0.983	D;P	0.70487	0.969;0.68	T	0.09271	-1.0682	10	0.56958	D	0.05	0.0372	4.9637	0.14080	0.0:0.6897:0.0:0.3103	.	1342;1606	Q14676-2;Q14676	.;MDC1_HUMAN	F	1606;1342;1319;1172	ENSP00000365588:V1606F;ENSP00000365587:V1342F	ENSP00000365587:V1342F	V	-	1	0	MDC1	30780123	0.000000	0.05858	0.002000	0.10522	0.020000	0.10135	-0.379000	0.07437	0.391000	0.25143	0.449000	0.29647	GTC		0.602	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		A	30672144	C	A	30672144	3	1	730	1	0	0	0	0	1	0	0	0	9405	478	17	4	1477	4	MDC1	6	30672144	Missense_Mutation	SNP	C	TCGA-KN-8424-01A-11D-2310-10	23099936	30672144	140442923	28	41061											
HLA-C	3107	mdanderson.org	37	6	31239049	31239049	+	Silent	SNP	G	G	T	rs1065406	byFrequency	TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr6:31239049G>T	ENST00000376228.5	-	3	434	c.420C>A	c.(418-420)tcC>tcA	p.S140S	HLA-C_ENST00000383329.3_Silent_p.S140S	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	140	Alpha-2.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						CGTCGTAGGCGGACTGGTCAT	0.706													g|||	270	0.0539137	0.0439	0.049	5008	,	,		13032	0.0377		0.0398	False		,,,				2504	0.1022															0													34	26	29					6																	31239049		2177	4252	6429	SO:0001819	synonymous_variant	3107			M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4933	protein-coding gene	gene with protein product		142840	"psoriasis susceptibility 1"	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.420C>A	6.37:g.31239049G>T			O02864|O02958|Q29643|Q9MY30	Silent	SNP	ENST00000376228.5	37	CCDS34393.1	150	0.06868131868131869	32	0.06504065040650407	18	0.049723756906077346	57	0.09965034965034965	43	0.05672823218997362	.	5.915	0.352896	0.11182	.	.	ENSG00000204525	ENST00000415537	.	.	.	2.59	-3.28	0.05033	.	.	.	.	.	T	0.07188	0.0182	.	.	.	0.24072	N	0.995975	.	.	.	.	.	.	T	0.34800	-0.9814	4	.	.	.	.	3.1816	0.06587	0.3131:0.0:0.2669:0.42	rs1065406;rs2308578;rs3176001;rs3180085;rs16868251;rs17840081	.	.	.	S	140	.	.	R	-	1	0	HLA-C	31347028	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.910000	0.00699	-0.884000	0.03976	-1.236000	0.01555	CGC		0.706	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076281.3	NM_002117		T	31239049	G	T	31239049	2	4	730	1	0	0	0	0	0	0	0	1	7199	1103	39	4		4	HLA-C	6	31239049	Silent	SNP	G	TCGA-KN-8424-01A-11D-2310-10	566905	31239049	139876018	29	41062			1	92		2	2	12	N	G_A	3.197961e-05
HLA-C	3107	mdanderson.org	37	6	31239060	31239060	+	Missense_Mutation	SNP	A	A	G	rs2308574	byFrequency	TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr6:31239060A>G	ENST00000376228.5	-	3	423	c.409T>C	c.(409-411)Tat>Cat	p.Y137H	HLA-C_ENST00000383329.3_Missense_Mutation_p.Y137H	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	137	Alpha-2.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						GACTGGTCATACCCGCGGAGG	0.706													a|||	737	0.147165	0.2042	0.1124	5008	,	,		12690	0.119		0.0984	False		,,,				2504	0.1738															0													32	25	27					6																	31239060		2170	4230	6400	SO:0001583	missense	3107			M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4933	protein-coding gene	gene with protein product		142840	"psoriasis susceptibility 1"	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.409T>C	6.37:g.31239060A>G	ENSP00000365402:p.Tyr137His		O02864|O02958|Q29643|Q9MY30	Missense_Mutation	SNP	ENST00000376228.5	37	CCDS34393.1	449|449	0.20558608058608058|0.20558608058608058	107|107	0.21747967479674796|0.21747967479674796	75|75	0.20718232044198895|0.20718232044198895	137|137	0.2395104895104895|0.2395104895104895	130|130	0.17150395778364116|0.17150395778364116	.|.	8.863|8.863	0.947475|0.947475	0.18356|0.18356	.|.	.|.	ENSG00000204525|ENSG00000204525	ENST00000415537|ENST00000376228;ENST00000383329;ENST00000396254;ENST00000539307	.|T;T	.|0.01051	.|5.4;5.4	2.81|2.81	1.59|1.59	0.23543|0.23543	.|MHC class I, alpha chain, alpha1/alpha2 (2);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.|0.528899	.|0.13774	.|U	.|0.363708	T|T	0.01287|0.01287	0.0042|0.0042	M|M	0.92923|0.92923	3.36|3.36	0.49299|0.49299	P|P	2.2599999999994846E-4|2.2599999999994846E-4	.|B;B;B;B	.|0.16396	.|0.017;0.002;0.002;0.004	.|B;B;B;B	.|0.31101	.|0.124;0.034;0.055;0.099	T|T	0.05683|0.05683	-1.0870|-1.0870	5|9	0.87932|0.56958	D|D	0|0.05	.|.	6.6067|6.6067	0.22729|0.22729	0.7862:0.0:0.0:0.2138|0.7862:0.0:0.0:0.2138	rs2308574;rs12721948;rs17839983|rs2308574;rs12721948;rs17839983	.|137;137;137;137	.|A2AEA4;A6H578;A2AEA2;P10321	.|.;.;.;1C07_HUMAN	A|H	136|137;137;137;174	.|ENSP00000365402:Y137H;ENSP00000372819:Y137H	ENSP00000365412:V131A|ENSP00000365402:Y137H	V|Y	-|-	2|1	0|0	HLA-C|HLA-C	31347039|31347039	0.000000|0.000000	0.05858|0.05858	0.022000|0.022000	0.16811|0.16811	0.006000|0.006000	0.05464|0.05464	0.709000|0.709000	0.25734|0.25734	0.458000|0.458000	0.26988|0.26988	0.254000|0.254000	0.18369|0.18369	GTA|TAT		0.706	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076281.3	NM_002117		G	31239060	A	G	31239060	3	3	730	1	0	0	0	0	1	0	0	0	7199	391	14	3	715	3	HLA-C	6	31239060	Missense_Mutation	SNP	A	TCGA-KN-8424-01A-11D-2310-10	11	31239060	139876007	30	41063			1	92		2	2	12	N	G_A	3.197961e-05
HSP90AB1	3326	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	6	44218791	44218791	+	Missense_Mutation	SNP	T	T	G			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr6:44218791T>G	ENST00000371554.1	+	7	1178	c.964T>G	c.(964-966)Tct>Gct	p.S322A	HSP90AB1_ENST00000353801.3_Missense_Mutation_p.S322A|HSP90AB1_ENST00000371646.5_Missense_Mutation_p.S322A			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	322					axon guidance (GO:0007411)|cellular response to interleukin-4 (GO:0071353)|cellular response to organic cyclic compound (GO:0071407)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|placenta development (GO:0001890)|positive regulation of cell size (GO:0045793)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein folding (GO:0006457)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to salt stress (GO:0009651)|response to unfolded protein (GO:0006986)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP binding (GO:0002135)|dATP binding (GO:0032564)|double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|poly(A) RNA binding (GO:0044822)|TPR domain binding (GO:0030911)|UTP binding (GO:0002134)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCAGCACTTTTCTGTAGAAGG	0.383																																																0													114	113	113					6																	44218791		2203	4300	6503	SO:0001583	missense	3326			AF275719	CCDS4909.1	6p12	2011-09-02	2006-02-24	2006-02-24	ENSG00000096384	ENSG00000096384		"Heat shock proteins / HSPC"	5258	protein-coding gene	gene with protein product		140572	"heat shock 90kD protein 1, beta", "heat shock 90kDa protein 1, beta"	HSPC2, HSPCB		2768249, 16269234	Standard	NM_001271969		Approved		uc031sor.1	P08238	OTTHUMG00000014761	ENST00000371554.1:c.964T>G	6.37:g.44218791T>G	ENSP00000360609:p.Ser322Ala		B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Missense_Mutation	SNP	ENST00000371554.1	37	CCDS4909.1	.	.	.	.	.	.	.	.	.	.	T	18.52	3.641533	0.67244	.	.	ENSG00000096384	ENST00000371646;ENST00000353801;ENST00000371554	T;T;T	0.12569	2.67;2.67;2.67	4.76	4.76	0.60689	Ribosomal protein S5 domain 2-type fold (1);	0.000000	0.64402	U	0.000004	T	0.23054	0.0557	H	0.94385	3.53	0.80722	D	1	B;B;B	0.24882	0.002;0.113;0.001	B;B;B	0.36186	0.014;0.219;0.035	T	0.15093	-1.0449	10	0.66056	D	0.02	-10.7397	14.2648	0.66110	0.0:0.0:0.0:1.0	.	284;312;322	B4DMA2;B4DGL0;P08238	.;.;HS90B_HUMAN	A	322	ENSP00000360709:S322A;ENSP00000325875:S322A;ENSP00000360609:S322A	ENSP00000325875:S322A	S	+	1	0	HSP90AB1	44326769	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	8.017000	0.88712	1.794000	0.52575	0.397000	0.26171	TCT		0.383	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040730.1	NM_007355		G	44218791	T	G	44218791	3	3	730	1	0	0	0	0	1	0	0	0	7404	1783	62	5	986	5	HSP90AB1	6	44218791	Missense_Mutation	SNP	T	TCGA-KN-8424-01A-11D-2310-10	12979731	44218791	126896276	31	41064											
MAP3K4	4216	bcgsc.ca	37	6	161527702	161527702	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr6:161527702A>G	ENST00000392142.4	+	20	4161	c.4013A>G	c.(4012-4014)aAg>aGg	p.K1338R	MAP3K4_ENST00000366920.2_Missense_Mutation_p.K1334R|MAP3K4_ENST00000348824.7_Missense_Mutation_p.K1284R|MAP3K4_ENST00000366919.2_Missense_Mutation_p.K1288R	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1338					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)		GGCTTGAGGAAGGTGACCTTC	0.383																																																0													153	142	146					6																	161527702		2203	4300	6503	SO:0001583	missense	4216			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.4013A>G	6.37:g.161527702A>G	ENSP00000375986:p.Lys1338Arg		A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	ENST00000392142.4	37	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	A	15.85	2.956002	0.53293	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.72167	-0.58;-0.62;-0.63;-0.58	4.61	4.61	0.57282	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.59183	0.2175	N	0.24115	0.695	0.58432	D	0.999999	B;B;D;D	0.56746	0.342;0.014;0.971;0.977	P;B;P;P	0.61477	0.565;0.026;0.889;0.844	T	0.58691	-0.7592	10	0.16420	T	0.52	-31.0922	14.0342	0.64636	1.0:0.0:0.0:0.0	.	1334;274;1288;1338	F5H538;Q9P1M2;Q9Y6R4-2;Q9Y6R4	.;.;.;M3K4_HUMAN	R	1288;1338;1288;1334;1284	ENSP00000355886:K1288R;ENSP00000375986:K1338R;ENSP00000355887:K1334R;ENSP00000297332:K1284R	ENSP00000297332:K1284R	K	+	2	0	MAP3K4	161447692	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	8.962000	0.93254	1.711000	0.51337	0.477000	0.44152	AAG		0.383	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			G	161527702	A	G	161527702	3	3	730	1	0	0	0	0	1	0	0	0	9254	72	3	3	4091	3	MAP3K4	6	161527702	Missense_Mutation	SNP	A	TCGA-KN-8424-01A-11D-2310-10	117308911	161527702	9587365	32	41065											
DNAH11	8701	broad.mit.edu;hgsc.bcm.edu	37	7	21904162	21904165	+	Frame_Shift_Del	DEL	AGAA	AGAA	-			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	AGAA	AGAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr7:21904162_21904165delAGAA	ENST00000409508.3	+	70	11414_11417	c.11383_11386delAGAA	c.(11383-11388)agaaagfs	p.RK3795fs	DNAH11_ENST00000328843.6_Frame_Shift_Del_p.RK3802fs	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3802					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						GATTTTGTTGAGAAAGAAAGAGAT	0.387									Kartagener syndrome																																							0																																										SO:0001589	frameshift_variant	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	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.11383_11386delAGAA	7.37:g.21904166_21904169delAGAA	ENSP00000475939:p.Arg3795fs		Q9UJ82	Frame_Shift_Del	DEL	ENST00000409508.3	37																																																																																					0.387	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		-	21904165	AGAA	-	21904162	7	5	730	1	0	1	0	1	0	0	0	0	4601	296	11	0	11683	0	DNAH11	7	21904162	Frame_Shift_Del	DEL	AGAA	TCGA-KN-8424-01A-11D-2310-10		21904162	137234501	33	41066	372	2									
DNAH11	8701	bcgsc.ca	37	7	21904163	21904166	+	Frame_Shift_Del	DEL	AGAA	AGAA	-			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	AGAA	AGAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr7:21904163_21904166delAGAA	ENST00000409508.3	+	70	11415_11418	c.11384_11387delAGAA	c.(11383-11388)aagaagfs	p.KK3795fs	DNAH11_ENST00000328843.6_Frame_Shift_Del_p.KK3802fs	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3802					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						ATTTTGTTGAGAAAGAAAGAGATA	0.382									Kartagener syndrome																																							0																																										SO:0001589	frameshift_variant	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	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.11384_11387delAGAA	7.37:g.21904163_21904166delAGAA	ENSP00000475939:p.Lys3795fs		Q9UJ82	Frame_Shift_Del	DEL	ENST00000409508.3	37																																																																																					0.382	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		-	21904166	AGAA	-	21904163	7	5	730	1	0	1	0	1	0	0	0	0	4601	942	33	0	11684	0	DNAH11	7	21904163	Frame_Shift_Del	DEL	AGAA	TCGA-KN-8424-01A-11D-2310-10	1	21904163	137234500	34	41067	372	2									
NPSR1	387129	broad.mit.edu	37	7	34724247	34724247	+	Silent	SNP	A	A	G			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr7:34724247A>G	ENST00000360581.1	+	2	359	c.231A>G	c.(229-231)agA>agG	p.R77R	NPSR1_ENST00000381542.1_Silent_p.R77R|NPSR1_ENST00000381539.3_Silent_p.R77R|NPSR1_ENST00000381553.3_Silent_p.R77R|NPSR1_ENST00000531252.1_Silent_p.R77R|NPSR1_ENST00000359791.1_Silent_p.R77R|NPSR1_ENST00000465305.1_Silent_p.R77R|NPSR1-AS1_ENST00000419766.1_RNA	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	77						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)	CATGGAGGAGAAAGAAGAAGT	0.428																																																0													157	150	152					7																	34724247		2203	4300	6503	SO:0001819	synonymous_variant	387129			AY255536	CCDS5443.1, CCDS5444.1, CCDS75579.1, CCDS75580.1, CCDS75581.1	7p14.3	2012-08-08	2006-05-10	2006-05-10	ENSG00000187258	ENSG00000187258		"GPCR / Class A : Neuropeptide receptors : S"	23631	protein-coding gene	gene with protein product		608595	"G protein-coupled receptor 154"	GPR154		12679517, 15073379	Standard	NM_207173		Approved	PGR14, GPRA	uc003tei.1	Q6W5P4	OTTHUMG00000099383	ENST00000360581.1:c.231A>G	7.37:g.34724247A>G			A2RTZ4|Q2XP58|Q56H76|Q56H77|Q56H78|Q6JSL4|Q6JSL5|Q6JSL6|Q6JSL7|Q6JSL8|Q6W5P3|Q6ZMB8	Silent	SNP	ENST00000360581.1	37	CCDS5444.1																																																																																				0.428	NPSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216837.1	NM_207173		G	34724247	A	G	34724247	2	3	730	1	0	0	0	0	0	0	0	1	10602	243	9	3		3	NPSR1	7	34724247	Silent	SNP	A	TCGA-KN-8424-01A-11D-2310-10	12820084	34724247	124414416	35	41068											
TNS3	64759	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	7	47451335	47451335	+	Missense_Mutation	SNP	C	C	G			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr7:47451335C>G	ENST00000398879.1	-	13	1079	c.713G>C	c.(712-714)gGa>gCa	p.G238A	TNS3_ENST00000442536.2_Missense_Mutation_p.G238A|TNS3_ENST00000311160.9_Missense_Mutation_p.G238A|TNS3_ENST00000355730.3_Missense_Mutation_p.G238A|TNS3_ENST00000458317.2_Missense_Mutation_p.G238A			Q68CZ2	TENS3_HUMAN	tensin 3	238	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				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						CATGACATCTCCCTTCAGAAG	0.512																																																0													56	63	61					7																	47451335		2072	4190	6262	SO:0001583	missense	64759			AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"SH2 domain containing"	21616	protein-coding gene	gene with protein product	"tumor endothelial marker 6"	606825	"tensin-like SH2 domain-containing 1"	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.713G>C	7.37:g.47451335C>G	ENSP00000381854:p.Gly238Ala		B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	ENST00000398879.1	37	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	C	23.9	4.465360	0.84425	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000355730;ENST00000457718;ENST00000450444;ENST00000442536;ENST00000458317	D;D;D;D;D;D;D	0.96300	-3.97;-3.97;-3.97;-3.97;-3.97;-3.97;-3.97	5.17	5.17	0.71159	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.112469	0.64402	D	0.000011	D	0.98438	0.9480	M	0.92833	3.35	0.51233	D	0.999911	D;P	0.89917	1.0;0.775	D;P	0.91635	0.999;0.649	D	0.99376	1.0921	10	0.87932	D	0	-28.4514	14.219	0.65812	0.0:1.0:0.0:0.0	.	238;238	Q68CZ2-4;Q68CZ2	.;TENS3_HUMAN	A	238;348;238;238;341;327;238;238	ENSP00000312143:G238A;ENSP00000381854:G238A;ENSP00000347968:G238A;ENSP00000414358:G341A;ENSP00000396914:G327A;ENSP00000389285:G238A;ENSP00000388318:G238A	ENSP00000312143:G238A	G	-	2	0	TNS3	47417860	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.176000	0.71955	2.416000	0.81992	0.555000	0.69702	GGA		0.512	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748		G	47451335	C	G	47451335	3	3	730	1	0	0	0	0	1	0	0	0	16349	855	30	4	3700	4	TNS3	7	47451335	Missense_Mutation	SNP	C	TCGA-KN-8424-01A-11D-2310-10	12727088	47451335	111687328	36	41069											
FGL2	10875	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	7	76828559	76828559	+	Silent	SNP	G	G	A			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr7:76828559G>A	ENST00000248598.5	-	1	584	c.552C>T	c.(550-552)gtC>gtT	p.V184V	CCDC146_ENST00000431197.1_Intron|RP11-467H10.2_ENST00000459742.1_RNA|CCDC146_ENST00000285871.4_Intron	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	184						extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						CCAAACTATTGACAACAAATG	0.343																																																0													131	124	126					7																	76828559		2203	4300	6503	SO:0001819	synonymous_variant	10875			Z36531	CCDS5591.1	7q11.23	2013-02-06			ENSG00000127951	ENSG00000127951		"Fibrinogen C domain containing"	3696	protein-coding gene	gene with protein product		605351				7642106	Standard	NM_006682		Approved	pT49, T49	uc003ugb.3	Q14314	OTTHUMG00000130681	ENST00000248598.5:c.552C>T	7.37:g.76828559G>A				Silent	SNP	ENST00000248598.5	37	CCDS5591.1																																																																																				0.343	FGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253176.1	NM_006682		A	76828559	G	A	76828559	2	1	730	1	0	0	0	0	0	0	0	1	5875	1277	45	2		2	FGL2	7	76828559	Silent	SNP	G	TCGA-KN-8424-01A-11D-2310-10	29377224	76828559	82310104	37	41070											
KLHDC10	23008	hgsc.bcm.edu	37	7	129710524	129710524	+	Missense_Mutation	SNP	G	G	C	rs1062154	byFrequency	TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr7:129710524G>C	ENST00000335420.5	+	1	175	c.41G>C	c.(40-42)gGa>gCa	p.G14A		NM_014997.3	NP_055812.1	Q6PID8	KLD10_HUMAN	kelch domain containing 10	14	Gly-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1)	17						cgccggaggggaggaggcgcc	0.756													G|||	31	0.0061901	0.0015	0.0058	5008	,	,		6862	0.0		0.0209	False		,,,				2504	0.0041															0								G	ALA/GLY	8,2858		0,8,1425	2	3	3		41	4.5	1	7	dbSNP_86	3	119,6077		0,119,2979	no	missense	KLHDC10	NM_014997.3	60	0,127,4404	CC,CG,GG		1.9206,0.2791,1.4015	probably-damaging	14/443	129710524	127,8935	1433	3098	4531	SO:0001583	missense	23008				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.41G>C	7.37:g.129710524G>C	ENSP00000334140:p.Gly14Ala		Q86Y99|Q92554	Missense_Mutation	SNP	ENST00000335420.5	37	CCDS5815.1	16	0.007326007326007326	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	14	0.018469656992084433	G	25.9	4.681437	0.88542	0.002791	0.019206	ENSG00000128607	ENST00000335420;ENST00000463413	T;T	0.36340	2.37;1.26	5.36	4.47	0.54385	.	0.279987	0.25380	N	0.031096	T	0.18800	0.0451	N	0.08118	0	0.29092	N	0.88205	D	0.76494	0.999	D	0.73708	0.981	T	0.08785	-1.0705	10	0.09338	T	0.73	-11.428	11.5366	0.50641	0.0:0.0:0.8214:0.1786	rs1062154;rs3173906	14	Q6PID8	KLD10_HUMAN	A	14	ENSP00000334140:G14A;ENSP00000420083:G14A	ENSP00000334140:G14A	G	+	2	0	KLHDC10	129497760	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.758000	0.47565	1.243000	0.43853	0.591000	0.81541	GGA		0.756	KLHDC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349347.2			C	129710524	G	C	129710524	3	2	730	1	0	0	0	0	1	0	0	0	8357	1174	41	4	43	4	KLHDC10	7	129710524	Missense_Mutation	SNP	G	TCGA-KN-8424-01A-11D-2310-10	52881965	129710524	29428139	38	41071											
OR2A5	393046	broad.mit.edu	37	7	143748124	143748124	+	Silent	SNP	G	G	A	rs372854651		TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr7:143748124G>A	ENST00000408906.2	+	1	664	c.630G>A	c.(628-630)ccG>ccA	p.P210P		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	210						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)					TGGTGGGGCCGCTCTGCCTGG	0.597																																																0								G		0,4028		0,0,2014	126	129	128		630	-2.7	1	7		128	3,8343		0,3,4170	no	coding-synonymous	OR2A5	NM_012365.1		0,3,6184	AA,AG,GG		0.0359,0.0,0.0242		210/312	143748124	3,12371	2014	4173	6187	SO:0001819	synonymous_variant	393046			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.630G>A	7.37:g.143748124G>A			B9EGX2|O43885|O43888	Silent	SNP	ENST00000408906.2	37	CCDS43668.1																																																																																				0.597	OR2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349986.1			A	143748124	G	A	143748124	2	1	730	1	0	0	0	0	0	0	0	1	10983	1074	38	1		1	OR2A5	7	143748124	Silent	SNP	G	TCGA-KN-8424-01A-11D-2310-10	14037600	143748124	15390539	39	41072											
MLL3	58508	hgsc.bcm.edu;mdanderson.org	37	7	152132844	152132845	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	CC	CC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr7:152132844_152132845CC>TT	ENST00000262189.6	-	1	245_246	c.27_28GG>AA	c.(25-30)gtGGag>gtAAag	p.E10K	FABP5P3_ENST00000477993.1_RNA|KMT2C_ENST00000355193.2_Missense_Mutation_p.E10K	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	10					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)										TGCGGCTGCTCCACGCTCTTGT	0.733																																																0																																										SO:0001583	missense	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.27_28delinsTT	7.37:g.152132844_152132845delinsTT	ENSP00000262189:p.Glu10Lys		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	DNP	ENST00000262189.6	37	CCDS5931.1																																																																																				0.733	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			TT	152132845	CC	TT	152132844	3	4	730	1	0	0	0	0	1	0	0	0	9624	864	30	2	14943	2	MLL3	7	152132844	Missense_Mutation	DNP	CC	TCGA-KN-8424-01A-11D-2310-10	8384720	152132844	7005819	40	41073											
RNF32	140545	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	7	156437191	156437191	+	Splice_Site	SNP	A	A	G			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr7:156437191A>G	ENST00000405335.1	+	4	424		c.e4-1		RNF32_ENST00000311822.8_Splice_Site|RNF32_ENST00000392741.2_Splice_Site|RNF32_ENST00000317955.5_Splice_Site|RNF32_ENST00000392740.1_Splice_Site|RNF32_ENST00000432459.2_Splice_Site|RNF32_ENST00000392743.2_Splice_Site|RNF32_ENST00000343665.4_Splice_Site			Q9H0A6	RNF32_HUMAN	ring finger protein 32							aggresome (GO:0016235)|endosome (GO:0005768)	zinc ion binding (GO:0008270)			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		CCTACTTTTTAGGGTCACTCA	0.343																																																0													50	54	53					7																	156437191		2203	4299	6502	SO:0001630	splice_region_variant	140545				CCDS5944.1	7q36	2013-08-05			ENSG00000105982	ENSG00000105982		"RING-type (C3HC4) zinc fingers"	17118	protein-coding gene	gene with protein product		610241				11890671	Standard	NM_001184996		Approved	FKSG33, HSD15, LMBR2	uc003wmr.3	Q9H0A6	OTTHUMG00000151440	ENST00000405335.1:c.16-1A>G	7.37:g.156437191A>G			Q6FIB3|Q6X7T4|Q8N6V8|Q8TDG0|Q96BM5|Q9Y6U1	Splice_Site	SNP	ENST00000405335.1	37	CCDS5944.1	.	.	.	.	.	.	.	.	.	.	A	11.29	1.594126	0.28445	.	.	ENSG00000105982	ENST00000404282;ENST00000439609;ENST00000432459;ENST00000317955;ENST00000405335;ENST00000311822;ENST00000392743;ENST00000392741;ENST00000343665;ENST00000392740	.	.	.	5.08	3.87	0.44632	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.0183	0.53329	0.8559:0.1441:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RNF32	156129952	1.000000	0.71417	0.994000	0.49952	0.553000	0.35397	3.274000	0.51631	1.910000	0.55303	0.482000	0.46254	.		0.343	RNF32-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322660.2	NM_030936	Intron	G	156437191	A	G	156437191	5	3	730	1	0	0	0	0	0	0	1	0	13494	434	15	3	20	3	RNF32	7	156437191	Splice_Site	SNP	A	TCGA-KN-8424-01A-11D-2310-10	4304347	156437191	2701472	41	41074											
TG	7038	hgsc.bcm.edu	37	8	134128949	134128949	+	Silent	SNP	C	C	T			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr8:134128949C>T	ENST00000220616.4	+	45	7891	c.7851C>T	c.(7849-7851)taC>taT	p.Y2617Y	TG_ENST00000377869.1_Silent_p.Y2560Y|TG_ENST00000519543.1_Silent_p.Y750Y|TG_ENST00000542445.1_Silent_p.Y987Y	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2617					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)		CTGAAAACTACGGCCATGGCA	0.517																																																0													94	76	82					8																	134128949		2203	4300	6503	SO:0001819	synonymous_variant	7038			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.7851C>T	8.37:g.134128949C>T			O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.627610	0.00813	.	.	ENSG00000042832	ENST00000519178	.	.	.	5.53	-8.73	0.00841	.	.	.	.	.	T	0.42921	0.1224	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.44832	-0.9302	4	.	.	.	.	18.2325	0.89938	0.0:0.8626:0.0:0.1374	.	.	.	.	W	1073	.	.	R	+	1	2	TG	134198131	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-1.654000	0.01984	-1.842000	0.01181	-2.404000	0.00223	CGG		0.517	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		T	134128949	C	T	134128949	2	4	730	1	0	0	0	0	0	0	0	1	15818	547	19	1		1	TG	8	134128949	Silent	SNP	C	TCGA-KN-8424-01A-11D-2310-10		134128949	12235073	42	41075											
PSCA	8000	mdanderson.org	37	8	143763547	143763547	+	Silent	SNP	C	C	A	rs1045531	byFrequency	TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr8:143763547C>A	ENST00000301258.4	+	3	425	c.342C>A	c.(340-342)ctC>ctA	p.L114L		NM_005672.4	NP_005663.2	O43653	PSCA_HUMAN	prostate stem cell antigen	123						anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(1)	2	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CCGGCCAGCTCTAGGCTCTGG	0.706													A|||	2013	0.401957	0.354	0.5072	5008	,	,		13713	0.3423		0.4473	False		,,,				2504	0.407															0								A		1450,2534		293,864,835	13	15	14		342	1.4	0.3	8	dbSNP_86	14	3740,4612		857,2026,1293	no	coding-synonymous	PSCA	NM_005672.4		1150,2890,2128	AA,AC,CC		44.7797,36.3956,42.072		114/115	143763547	5190,7146	1992	4176	6168	SO:0001819	synonymous_variant	8000			AF043498	CCDS47925.1, CCDS47925.2	8q24.2	2004-02-03				ENSG00000167653			9500	protein-coding gene	gene with protein product		602470				9465086	Standard	NM_005672		Approved		uc022bcd.1	O43653		ENST00000301258.4:c.342C>A	8.37:g.143763547C>A			Q6UW92	Silent	SNP	ENST00000301258.4	37	CCDS47925.2																																																																																				0.706	PSCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367112.2	NM_005672		A	143763547	C	A	143763547	2	1	730	1	0	0	0	0	0	0	0	1	12650	900	32	4		4	PSCA	8	143763547	Silent	SNP	C	TCGA-KN-8424-01A-11D-2310-10	9634598	143763547	2600475	43	41076											
SCRIB	23513	hgsc.bcm.edu	37	8	144874055	144874055	+	Silent	SNP	C	C	T			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr8:144874055C>T	ENST00000320476.3	-	34	4692	c.4686G>A	c.(4684-4686)ccG>ccA	p.P1562P	SCRIB_ENST00000546337.1_5'Flank|SCRIB_ENST00000356994.2_Silent_p.P1562P|RP11-429J17.8_ENST00000527139.1_RNA|RP11-429J17.8_ENST00000532625.1_RNA|SCRIB_ENST00000377533.3_Silent_p.P1481P|RP11-429J17.8_ENST00000534089.1_RNA	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1562					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)			CCAGGCGTCCCGGGGAGGTGC	0.726																																					Pancreas(51;966 1133 10533 14576 29674)											0													6	8	7					8																	144874055		2073	4137	6210	SO:0001819	synonymous_variant	23513			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.4686G>A	8.37:g.144874055C>T			Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Silent	SNP	ENST00000320476.3	37	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	C	9.161	1.018831	0.19355	.	.	ENSG00000180900	ENST00000526832	.	.	.	4.46	-8.93	0.00771	.	.	.	.	.	T	0.44850	0.1313	.	.	.	0.51482	D	0.999928	.	.	.	.	.	.	T	0.51196	-0.8736	4	.	.	.	.	6.53	0.22322	0.1245:0.4597:0.3309:0.0849	.	.	.	.	R	582	.	.	G	-	1	0	SCRIB	144946043	0.000000	0.05858	0.727000	0.30756	0.989000	0.77384	-3.492000	0.00453	-2.365000	0.00606	-0.408000	0.06270	GGG		0.726	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		T	144874055	C	T	144874055	2	4	730	1	0	0	0	0	0	0	0	1	13943	639	23	1		1	SCRIB	8	144874055	Silent	SNP	C	TCGA-KN-8424-01A-11D-2310-10	1110508	144874055	1489967	44	41077											
ADCK5	203054	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	8	145617189	145617189	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr8:145617189G>A	ENST00000308860.6	+	10	1107	c.1063G>A	c.(1063-1065)Ggc>Agc	p.G355S	MIR939_ENST00000401314.1_RNA|CPSF1_ENST00000531727.1_5'Flank	NM_174922.3	NP_777582.4	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	355	Protein kinase.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	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;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			ATTTTACACCGGCTTCATCCA	0.592																																																0													78	79	79					8																	145617189		2202	4300	6502	SO:0001583	missense	203054			BC032402	CCDS34965.1, CCDS34965.2	8q24.3	2004-07-06			ENSG00000173137	ENSG00000173137			21738	protein-coding gene	gene with protein product							Standard	NM_174922		Approved	FLJ35454	uc003zch.3	Q3MIX3	OTTHUMG00000165190	ENST00000308860.6:c.1063G>A	8.37:g.145617189G>A	ENSP00000310547:p.Gly355Ser		B3KS46|Q5U4P1|Q6P2S4|Q8N5V3	Missense_Mutation	SNP	ENST00000308860.6	37	CCDS34965.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.140720	0.77775	.	.	ENSG00000173137	ENST00000308860	T	0.28454	1.61	5.54	5.54	0.83059	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.63977	0.2557	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.71293	-0.4636	10	0.72032	D	0.01	-44.657	16.9685	0.86293	0.0:0.0:1.0:0.0	.	355	Q3MIX3	ADCK5_HUMAN	S	355	ENSP00000310547:G355S	ENSP00000310547:G355S	G	+	1	0	ADCK5	145587997	1.000000	0.71417	0.949000	0.38748	0.225000	0.24961	5.708000	0.68377	2.617000	0.88574	0.555000	0.69702	GGC		0.592	ADCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382556.2	NM_174922		A	145617189	G	A	145617189	3	1	730	1	0	0	0	0	1	0	0	0	291	1116	39	1	1101	1	ADCK5	8	145617189	Missense_Mutation	SNP	G	TCGA-KN-8424-01A-11D-2310-10	743134	145617189	746833	45	41078											
GLIS3	169792	broad.mit.edu	37	9	3856040	3856040	+	Silent	SNP	A	A	G			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr9:3856040A>G	ENST00000324333.10	-	8	2170	c.1977T>C	c.(1975-1977)tcT>tcC	p.S659S	GLIS3_ENST00000461870.1_5'UTR|GLIS3_ENST00000381971.3_Silent_p.S814S	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	659					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)		GTTGAAAAGAAGAGTTTGTTT	0.443																																																0													150	145	146					9																	3856040		2203	4300	6503	SO:0001819	synonymous_variant	169792			BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"Zinc fingers, C2H2-type"	28510	protein-coding gene	gene with protein product		610192	"zinc finger protein 515"	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.1977T>C	9.37:g.3856040A>G			B1AL19|Q1PHK5	Silent	SNP	ENST00000324333.10	37	CCDS6451.1																																																																																				0.443	GLIS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051559.1	NM_152629		G	3856040	A	G	3856040	2	3	730	1	0	0	0	0	0	0	0	1	6449	59	3	3		3	GLIS3	9	3856040	Silent	SNP	A	TCGA-KN-8424-01A-11D-2310-10		3856040	137357391	46	41079											
HABP4	22927	broad.mit.edu	37	9	99227725	99227725	+	Missense_Mutation	SNP	G	G	T	rs375474752		TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr9:99227725G>T	ENST00000375249.4	+	3	694	c.619G>T	c.(619-621)Gct>Tct	p.A207S	HABP4_ENST00000375251.3_Intron	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)				AGTTTTTGACGCTTTTGACCA	0.473																																																0													116	126	122					9																	99227725		2203	4300	6503	SO:0001583	missense	22927			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.619G>T	9.37:g.99227725G>T	ENSP00000364398:p.Ala207Ser			Missense_Mutation	SNP	ENST00000375249.4	37	CCDS6719.1	.	.	.	.	.	.	.	.	.	.	G	7.251	0.603304	0.14002	.	.	ENSG00000130956	ENST00000375249	T	0.28255	1.62	4.86	-0.806	0.10875	.	0.826723	0.11648	N	0.543070	T	0.08714	0.0216	N	0.01352	-0.895	0.09310	N	1	B	0.14438	0.01	B	0.08055	0.003	T	0.27773	-1.0064	10	0.31617	T	0.26	-0.1667	3.8665	0.09018	0.2946:0.0:0.436:0.2694	.	207	Q5JVS0	HABP4_HUMAN	S	207	ENSP00000364398:A207S	ENSP00000364398:A207S	A	+	1	0	HABP4	98267546	0.912000	0.30974	0.001000	0.08648	0.160000	0.22226	0.612000	0.24283	-0.228000	0.09869	-0.365000	0.07479	GCT		0.473	HABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053269.1	NM_014282		T	99227725	G	T	99227725	3	4	730	1	0	0	0	0	1	0	0	0	6941	1087	38	4	629	4	HABP4	9	99227725	Missense_Mutation	SNP	G	TCGA-KN-8424-01A-11D-2310-10	95371685	99227725	41985706	47	41080											
NUP188	23511	broad.mit.edu	37	9	131730829	131730829	+	Silent	SNP	A	A	G			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr9:131730829A>G	ENST00000372577.2	+	9	651	c.630A>G	c.(628-630)gaA>gaG	p.E210E		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	210					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						GCCTTCGGGAACAGTCCATGC	0.388																																																0													110	108	109					9																	131730829		2203	4300	6503	SO:0001819	synonymous_variant	23511			D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"KIAA0169"	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.630A>G	9.37:g.131730829A>G			Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Silent	SNP	ENST00000372577.2	37	CCDS35156.1																																																																																				0.388	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2			G	131730829	A	G	131730829	2	3	730	1	0	0	0	0	0	0	0	1	10760	40	2	3		3	NUP188	9	131730829	Silent	SNP	A	TCGA-KN-8424-01A-11D-2310-10	32503104	131730829	9482602	48	41081											
SNAPC4	6621	mdanderson.org	37	9	139272502	139272502	+	Silent	SNP	T	T	C	rs3812565	byFrequency	TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr9:139272502T>C	ENST00000298532.2	-	21	4145	c.3777A>G	c.(3775-3777)ctA>ctG	p.L1259L		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa											biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CAGGCTGGGGTAGGGGCGGCT	0.746													N|||	1642	0.327875	0.2935	0.5648	5008	,	,		12956	0.1885		0.3549	False		,,,				2504	0.3221															0										899,2601		168,563,1019	4	5	4		3777	-2.4	0	9	dbSNP_107	4	2448,4658		514,1420,1619	no	coding-synonymous	SNAPC4	NM_003086.2		682,1983,2638	CC,CT,TT		34.4498,25.6857,31.5576		1259/1470	139272502	3347,7259	1750	3553	5303	SO:0001819	synonymous_variant	6621			AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"small nuclear RNA activating complex, polypeptide 4, 190kD"			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.3777A>G	9.37:g.139272502T>C				Silent	SNP	ENST00000298532.2	37	CCDS6998.1																																																																																				0.746	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055071.1	NM_003086		C	139272502	T	C	139272502	2	2	730	1	0	0	0	0	0	0	0	1	14843	1625	57	3		3	SNAPC4	9	139272502	Silent	SNP	T	TCGA-KN-8424-01A-11D-2310-10	7541673	139272502	1940929	49	41082											
ZNF438	220929	broad.mit.edu	37	10	31138701	31138701	+	Silent	SNP	A	A	G			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr10:31138701A>G	ENST00000361310.3	-	6	962	c.633T>C	c.(631-633)caT>caC	p.H211H	ZNF438_ENST00000442986.1_Silent_p.H211H|ZNF438_ENST00000331737.6_Silent_p.H201H|ZNF438_ENST00000375311.1_Intron|ZNF438_ENST00000538351.2_Silent_p.H162H|ZNF438_ENST00000436087.2_Silent_p.H211H|ZNF438_ENST00000413025.1_Silent_p.H211H|ZNF438_ENST00000452305.1_Silent_p.H201H|ZNF438_ENST00000444692.2_Silent_p.H201H			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	211					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)				TCAGACTGCCATGGGTGTTGG	0.552																																																0													133	120	124					10																	31138701		2203	4300	6503	SO:0001819	synonymous_variant	220929			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.633T>C	10.37:g.31138701A>G			A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Silent	SNP	ENST00000361310.3	37	CCDS7168.1																																																																																				0.552	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277006.1	NM_182755		G	31138701	A	G	31138701	2	3	730	1	0	0	0	0	0	0	0	1	17915	214	8	3		3	ZNF438	10	31138701	Silent	SNP	A	TCGA-KN-8424-01A-11D-2310-10		31138701	104396046	50	41083											
JMJD1C	221037	broad.mit.edu;hgsc.bcm.edu	37	10	64957252	64957253	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr10:64957252_64957253insA	ENST00000399262.2	-	13	5780_5781	c.5562_5563insT	c.(5560-5565)tttaacfs	p.N1855fs	JMJD1C_ENST00000542921.1_Frame_Shift_Ins_p.N1673fs|JMJD1C_ENST00000402544.1_Frame_Shift_Ins_p.N1636fs|JMJD1C_ENST00000399251.1_3'UTR	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1855					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)					CAGTGAATGTTAAACAATGTTG	0.381																																																0																																										SO:0001589	frameshift_variant	221037			L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"thyroid hormone receptor interactor 8"	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.5563dupT	10.37:g.64957255_64957255dupA	ENSP00000382204:p.Asn1855fs		A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Nonsense_Mutation	INS	ENST00000399262.2	37	CCDS41532.1																																																																																				0.381	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		A	64957253	-	A	64957252	7	5	730	1	0	1	1	0	0	0	0	0	7952	1754	61	0	2115	0	JMJD1C	10	64957252	Frame_Shift_Ins	INS	-	TCGA-KN-8424-01A-11D-2310-10	33818551	64957252	70577495	51	41084	373	2									
JMJD1C	221037	bcgsc.ca	37	10	64957253	64957254	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr10:64957253_64957254insA	ENST00000399262.2	-	13	5779_5780	c.5561_5562insT	c.(5560-5562)tttfs	p.F1854fs	JMJD1C_ENST00000542921.1_Frame_Shift_Ins_p.F1672fs|JMJD1C_ENST00000402544.1_Frame_Shift_Ins_p.F1635fs|JMJD1C_ENST00000399251.1_3'UTR	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1854					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)					AGTGAATGTTAAACAATGTTGC	0.386																																																0																																										SO:0001589	frameshift_variant	221037			L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"thyroid hormone receptor interactor 8"	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.5563dupT	10.37:g.64957255_64957255dupA	ENSP00000382204:p.Phe1854fs		A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Frame_Shift_Ins	INS	ENST00000399262.2	37	CCDS41532.1																																																																																				0.386	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		A	64957254	-	A	64957253	7	5	730	1	0	1	1	0	0	0	0	0	7952	359	13	0	2116	0	JMJD1C	10	64957253	Frame_Shift_Ins	INS	-	TCGA-KN-8424-01A-11D-2310-10	1	64957253	70577494	52	41085	373	2									
HPSE2	60495	ucsc.edu	37	10	100401630	100401630	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr10:100401630A>G	ENST00000370552.3	-	7	1131	c.1072T>C	c.(1072-1074)Tct>Cct	p.S358P	HPSE2_ENST00000404542.1_Missense_Mutation_p.S246P|HPSE2_ENST00000370549.1_Missense_Mutation_p.S300P|HPSE2_ENST00000370546.1_Missense_Mutation_p.S358P	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																																																0													199	212	207					10																	100401630		2203	4300	6503	SO:0001583	missense	60495			AF282885	CCDS7477.1, CCDS53567.1, CCDS53568.1	10q23-q24	2014-05-09	2014-05-09		ENSG00000172987	ENSG00000172987			18374	protein-coding gene	gene with protein product		613469	"urofacial syndrome", "heparanase 2"	UFS		11027606, 20605132, 9199567, 20576607	Standard	NM_021828		Approved	HPA2, HPR2	uc001kpn.2	Q8WWQ2	OTTHUMG00000018880	ENST00000370552.3:c.1072T>C	10.37:g.100401630A>G	ENSP00000359583:p.Ser358Pro		Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Missense_Mutation	SNP	ENST00000370552.3	37	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		G	100401630	A	G	100401630	3	3	730	1	0	0	0	0	1	0	0	0	7347	304	11	3	768	3	HPSE2	10	100401630	Missense_Mutation	SNP	A	TCGA-KN-8424-01A-11D-2310-10	35444377	100401630	35133117	53	41086											
CYP2E1	1571	hgsc.bcm.edu	37	10	135346309	135346309	+	Silent	SNP	T	T	C			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr10:135346309T>C	ENST00000463117.2	+	7	1034	c.762T>C	c.(760-762)caT>caC	p.H254H	SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000252945.3_Silent_p.H254H			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	254					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)	AGGAGCACCATCAATCTCTGG	0.532									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																																							0													88	87	87					10																	135346309		2203	4300	6503	SO:0001819	synonymous_variant	1571	Familial Cancer Database	incl.: Familial Head and Neck Cancer	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.762T>C	10.37:g.135346309T>C			Q5VZD5|Q6NWT9|Q9UK47	Silent	SNP	ENST00000463117.2	37	CCDS7686.1																																																																																				0.532	CYP2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051161.2	NM_000773		C	135346309	T	C	135346309	2	2	730	1	0	0	0	0	0	0	0	1	4172	1432	50	3		3	CYP2E1	10	135346309	Silent	SNP	T	TCGA-KN-8424-01A-11D-2310-10	34944679	135346309	188438	54	41087											
PKP3	11187	mdanderson.org	37	11	397063	397063	+	Missense_Mutation	SNP	C	C	A	rs113852684	byFrequency	TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr11:397063C>A	ENST00000331563.2	+	3	638	c.562C>A	c.(562-564)Ccc>Acc	p.P188T		NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	188					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)		GCGGCTGGGGCCCGGGGGCCT	0.711													g|||	50	0.00998403	0.0008	0.0187	5008	,	,		13907	0.0		0.0318	False		,,,				2504	0.0041															0									THR/PRO	23,4305		0,23,2141	21	26	24		562	-7.3	0	11	dbSNP_132	24	178,8328		2,174,4077	no	missense	PKP3	NM_007183.2	38	2,197,6218	AA,AC,CC		2.0926,0.5314,1.5662	benign	188/798	397063	201,12633	2164	4253	6417	SO:0001583	missense	11187			Z98265	CCDS7695.1	11p15	2013-02-14			ENSG00000184363	ENSG00000184363		"Armadillo repeat containing"	9025	protein-coding gene	gene with protein product		605561				10374265	Standard	XM_005252760		Approved		uc001lpc.3	Q9Y446	OTTHUMG00000119068	ENST00000331563.2:c.562C>A	11.37:g.397063C>A	ENSP00000331678:p.Pro188Thr		F8J390|Q53EX8	Missense_Mutation	SNP	ENST00000331563.2	37	CCDS7695.1	32	0.014652014652014652	0	0.0	12	0.03314917127071823	1	0.0017482517482517483	19	0.025065963060686015	g	0.001	-3.381430	0.00015	0.005314	0.020926	ENSG00000184363	ENST00000534401;ENST00000533249;ENST00000527442;ENST00000528036;ENST00000331563;ENST00000531857	T	0.80214	-1.35	3.66	-7.32	0.01436	.	2.113190	0.02807	N	0.123819	T	0.45915	0.1366	N	0.22421	0.69	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.63804	-0.6554	10	0.17369	T	0.5	-0.6299	15.2	0.73130	0.0:0.3915:0.5262:0.0823	.	188	Q9Y446	PKP3_HUMAN	T	32;32;32;32;188;130	ENSP00000331678:P188T	ENSP00000331678:P188T	P	+	1	0	PKP3	387063	0.000000	0.05858	0.001000	0.08648	0.150000	0.21749	-1.689000	0.01923	-5.013000	0.00024	-4.230000	0.00009	CCC		0.711	PKP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239281.1	NM_007183		A	397063	C	A	397063	3	1	730	1	0	0	0	0	1	0	0	0	11988	739	26	4	572	4	PKP3	11	397063	Missense_Mutation	SNP	C	TCGA-KN-8424-01A-11D-2310-10		397063	134609453	55	41088											
DNHD1	144132	bcgsc.ca	37	11	6592054	6592054	+	Nonsense_Mutation	SNP	C	C	T	rs80197979	byFrequency	TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr11:6592054C>T	ENST00000527990.2	+	40	13312	c.13312C>T	c.(13312-13314)Cga>Tga	p.R4438*	DNHD1_ENST00000254579.6_Nonsense_Mutation_p.R4438*			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4438					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TGCGGAAAGGCGACTGCGGCA	0.637													C|||	14	0.00279553	0.0091	0.0029	5008	,	,		19165	0.0		0.0	False		,,,				2504	0.0															0								C	stop/ARG	15,4247		0,15,2116	32	38	36		13312	3.8	1	11	dbSNP_132	36	0,8474		0,0,4237	yes	stop-gained	DNHD1	NM_144666.2		0,15,6353	TT,TC,CC		0.0,0.3519,0.1178		4438/4754	6592054	15,12721	2131	4237	6368	SO:0001587	stop_gained	144132			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 47", "dynein heavy chain domain 1-like", "coiled-coil domain containing 35"	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.13312C>T	11.37:g.6592054C>T	ENSP00000436180:p.Arg4438*		Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Nonsense_Mutation	SNP	ENST00000527990.2	37	CCDS44532.1	5	0.0022893772893772895	4	0.008130081300813009	1	0.0027624309392265192	0	0.0	0	0.0	C	56	25.341051	0.99964	0.003519	0.0	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000530197	.	.	.	4.78	3.85	0.44370	.	0.363985	0.24105	N	0.041505	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-13.986	10.3266	0.43796	0.1952:0.8047:0.0:0.0	.	.	.	.	X	4438;4438;706	.	ENSP00000254579:R4438X	R	+	1	2	DNHD1	6548630	0.705000	0.27846	0.996000	0.52242	0.324000	0.28378	0.828000	0.27435	1.199000	0.43173	0.563000	0.77884	CGA		0.637	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		T	6592054	C	T	6592054	4	4	730	1	0	0	0	0	0	1	0	0	4670	760	27	1	13479	1	DNHD1	11	6592054	Nonsense_Mutation	SNP	C	TCGA-KN-8424-01A-11D-2310-10	6194991	6592054	128414462	56	41089											
USP28	57646	bcgsc.ca	37	11	113685956	113685956	+	Missense_Mutation	SNP	T	T	C	rs141617594		TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr11:113685956T>C	ENST00000003302.4	-	14	1680	c.1612A>G	c.(1612-1614)Ata>Gta	p.I538V	USP28_ENST00000545540.1_Missense_Mutation_p.I413V|RP11-667M19.10_ENST00000399123.2_RNA|USP28_ENST00000260188.5_Missense_Mutation_p.I538V|USP28_ENST00000537706.1_Missense_Mutation_p.I538V|USP28_ENST00000544967.1_Missense_Mutation_p.I246V	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	538	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)		ACAAAATTTATCTCCTCATCT	0.403																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)											0								T	VAL/ILE	1,4401	2.1+/-5.4	0,1,2200	141	134	136		1612	6	1	11	dbSNP_134	136	0,8592		0,0,4296	no	missense	USP28	NM_020886.2	29	0,1,6496	CC,CT,TT		0.0,0.0227,0.0077	benign	538/1078	113685956	1,12993	2201	4296	6497	SO:0001583	missense	57646			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.1612A>G	11.37:g.113685956T>C	ENSP00000003302:p.Ile538Val		B0YJC0|B0YJC1|Q9P213	Missense_Mutation	SNP	ENST00000003302.4	37	CCDS31680.1	.	.	.	.	.	.	.	.	.	.	T	14.99	2.700283	0.48307	2.27E-4	0.0	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000544967;ENST00000545540;ENST00000538475;ENST00000537706	T;T;T;T;T;T	0.42900	1.61;1.61;1.02;1.61;0.96;1.99	5.97	5.97	0.96955	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.357783	0.35739	N	0.003003	T	0.29355	0.0731	L	0.28192	0.835	0.27353	N	0.956183	B;B;B;B	0.10296	0.001;0.001;0.001;0.003	B;B;B;B	0.09377	0.003;0.004;0.002;0.003	T	0.15178	-1.0446	10	0.49607	T	0.09	-3.0629	8.5621	0.33516	0.0:0.068:0.1317:0.8002	.	413;538;538;246	B4E3L3;Q6NZX9;Q96RU2;G3V1N5	.;.;UBP28_HUMAN;.	V	538;538;246;413;242;538	ENSP00000003302:I538V;ENSP00000260188:I538V;ENSP00000442431:I246V;ENSP00000444991:I413V;ENSP00000442257:I242V;ENSP00000445743:I538V	ENSP00000003302:I538V	I	-	1	0	USP28	113191166	1.000000	0.71417	0.999000	0.59377	0.915000	0.54546	3.302000	0.51849	2.285000	0.76669	0.477000	0.44152	ATA		0.403	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1			C	113685956	T	C	113685956	3	2	730	1	0	0	0	0	1	0	0	0	17063	1435	50	3	1669	3	USP28	11	113685956	Missense_Mutation	SNP	T	TCGA-KN-8424-01A-11D-2310-10	107093902	113685956	21320560	57	41090											
SLC4A8	9498	broad.mit.edu	37	12	51868953	51868954	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr12:51868953_51868954insA	ENST00000453097.2	+	16	2352_2353	c.2135_2136insA	c.(2134-2139)ttaaagfs	p.LK712fs	SLC4A8_ENST00000358657.3_Frame_Shift_Ins_p.LK739fs|SLC4A8_ENST00000514353.3_Frame_Shift_Ins_p.LK659fs|SLC4A8_ENST00000394856.1_Frame_Shift_Ins_p.LK659fs	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)		TCAAGCACCTTAAAGACGTTTA	0.441																																																0																																										SO:0001589	frameshift_variant	9498			AB018282	CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1	12q13.13	2013-05-22			ENSG00000050438	ENSG00000050438		"Solute carriers"	11034	protein-coding gene	gene with protein product		605024				11133997	Standard	NM_001039960		Approved	NBC3	uc001rys.2	Q2Y0W8	OTTHUMG00000169489	ENST00000453097.2:c.2138dupA	12.37:g.51868956_51868956dupA	ENSP00000405812:p.Leu712fs			Frame_Shift_Ins	INS	ENST00000453097.2	37	CCDS44890.1																																																																																				0.441	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404356.1	NM_004858		A	51868954	-	A	51868953	7	5	730	1	0	1	1	0	0	0	0	0	14665	1764	61	0	2197	0	SLC4A8	12	51868953	Frame_Shift_Ins	INS	-	TCGA-KN-8424-01A-11D-2310-10		51868953	81982942	58	41091											
ACVRL1	94	ucsc.edu	37	12	52306933	52306933	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr12:52306933A>G	ENST00000388922.4	+	3	395	c.112A>G	c.(112-114)Agc>Ggc	p.S38G	ACVRL1_ENST00000550683.1_Missense_Mutation_p.S52G|ACVRL1_ENST00000419526.2_Intron	NM_000020.2	NP_000011.2	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	38			S -> C. {ECO:0000269|PubMed:20414677}.		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)	CACGTGTGAGAGCCCACATTG	0.682																																																0													16	19	18					12																	52306933		2202	4299	6501	SO:0001583	missense	94			L17075	CCDS31804.1	12q13.13	2014-09-17			ENSG00000139567	ENSG00000139567			175	protein-coding gene	gene with protein product		601284		ACVRLK1, ORW2		8397373, 8640225	Standard	NM_000020		Approved	HHT2, ALK1, HHT	uc001rzk.3	P37023	OTTHUMG00000169507	ENST00000388922.4:c.112A>G	12.37:g.52306933A>G	ENSP00000373574:p.Ser38Gly		A6NGA8	Missense_Mutation	SNP	ENST00000388922.4	37	CCDS31804.1	.	.	.	.	.	.	.	.	.	.	A	1.615	-0.523057	0.04141	.	.	ENSG00000139567	ENST00000388922;ENST00000267008;ENST00000547400;ENST00000550683	D;D;D	0.97620	-4.46;-4.46;-4.46	5.76	0.823	0.18812	.	1.165910	0.06270	N	0.695557	D	0.87779	0.6263	N	0.01109	-1.01	0.09310	N	0.999994	B	0.02656	0.0	B	0.01281	0.0	T	0.80355	-0.1417	10	0.21014	T	0.42	.	7.4721	0.27355	0.6494:0.0:0.3506:0.0	.	38	P37023	ACVL1_HUMAN	G	38;38;52;52	ENSP00000373574:S38G;ENSP00000446724:S52G;ENSP00000447884:S52G	ENSP00000267008:S38G	S	+	1	0	ACVRL1	50593200	0.000000	0.05858	0.001000	0.08648	0.044000	0.14063	0.042000	0.13949	0.112000	0.17975	0.533000	0.62120	AGC		0.682	ACVRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404520.2			G	52306933	A	G	52306933	3	3	730	1	0	0	0	0	1	0	0	0	225	304	11	3	118	3	ACVRL1	12	52306933	Missense_Mutation	SNP	A	TCGA-KN-8424-01A-11D-2310-10	437980	52306933	81544962	59	41092											
MON2	23041	hgsc.bcm.edu;mdanderson.org	37	12	62954344	62954344	+	Silent	SNP	A	A	T			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr12:62954344A>T	ENST00000393632.2	+	26	3874	c.3483A>T	c.(3481-3483)gtA>gtT	p.V1161V	MON2_ENST00000393630.3_Silent_p.V1162V|MON2_ENST00000552738.1_Silent_p.V1138V|MON2_ENST00000393629.2_Silent_p.V1161V|MON2_ENST00000546600.1_Silent_p.V1161V|MON2_ENST00000280379.6_Silent_p.V1162V	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	1161					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)		ACAATGAAGTATCTCTGGCTG	0.403																																																0													75	78	77					12																	62954344		2203	4300	6503	SO:0001819	synonymous_variant	23041				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.3483A>T	12.37:g.62954344A>T			A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Silent	SNP	ENST00000393632.2	37	CCDS31849.1																																																																																				0.403	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3	NM_015026		T	62954344	A	T	62954344	2	4	730	1	0	0	0	0	0	0	0	1	9702	436	16	5		5	MON2	12	62954344	Silent	SNP	A	TCGA-KN-8424-01A-11D-2310-10	10647411	62954344	70897551	60	41093											
KRR1	11103	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	12	75895756	75895756	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr12:75895756C>T	ENST00000229214.4	-	8	879	c.856G>A	c.(856-858)Gaa>Aaa	p.E286K	KRR1_ENST00000438169.2_Missense_Mutation_p.E229K|GLIPR1_ENST00000266659.3_3'UTR	NM_007043.6	NP_008974.5	Q13601	KRR1_HUMAN	KRR1, small subunit (SSU) processome component, homolog (yeast)	286	Lys-rich.				rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	11						AAAAAGTATTCACCACTAGCC	0.368																																																0													172	162	165					12																	75895756		2203	4300	6503	SO:0001583	missense	11103			U55766	CCDS9012.1	12q	2011-03-15	2006-05-18	2006-05-18	ENSG00000111615	ENSG00000111615			5176	protein-coding gene	gene with protein product		612817	"HIV-1 rev binding protein 2", "HIV-1 Rev binding protein 2"	HRB2		7505766, 11027267, 11359931, 8675026	Standard	NM_007043		Approved	RIP-1	uc001sxt.3	Q13601	OTTHUMG00000169759	ENST00000229214.4:c.856G>A	12.37:g.75895756C>T	ENSP00000229214:p.Glu286Lys		A0FIK6|A0JLP0|B2R989|E7EUQ0|Q8NEA8|Q8TC37|Q96AT5	Missense_Mutation	SNP	ENST00000229214.4	37	CCDS9012.1	.	.	.	.	.	.	.	.	.	.	C	35	5.566254	0.96540	.	.	ENSG00000111615	ENST00000229214;ENST00000438169	T;T	0.59364	0.27;1.58	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.81128	0.4758	M	0.88640	2.97	0.58432	D	0.999999	D;D	0.89917	0.998;1.0	D;D	0.77557	0.99;0.987	D	0.84343	0.0528	10	0.87932	D	0	-0.1297	19.5833	0.95478	0.0:1.0:0.0:0.0	.	229;286	E7EUQ0;Q13601	.;KRR1_HUMAN	K	286;229	ENSP00000229214:E286K;ENSP00000411740:E229K	ENSP00000229214:E286K	E	-	1	0	KRR1	74182023	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.517000	0.73759	2.612000	0.88384	0.655000	0.94253	GAA		0.368	KRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405727.1	NM_007043		T	75895756	C	T	75895756	3	4	730	1	0	0	0	0	1	0	0	0	8448	835	29	2	301	2	KRR1	12	75895756	Missense_Mutation	SNP	C	TCGA-KN-8424-01A-11D-2310-10	12941412	75895756	57956139	61	41094											
CCDC62	84660	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	123282632	123282632	+	Splice_Site	SNP	A	A	T			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr12:123282632A>T	ENST00000253079.6	+	8	1206	c.862A>T	c.(862-864)Att>Ttt	p.I288F	CCDC62_ENST00000392441.4_Splice_Site_p.I288F|CCDC62_ENST00000392440.2_Splice_Site_p.I49F|CCDC62_ENST00000537566.1_Splice_Site_p.I49F	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	288					cellular response to estradiol stimulus (GO:0071392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		TCTATGACAGATTTATGTAAA	0.313																																																0													51	49	50					12																	123282632		2203	4299	6502	SO:0001630	splice_region_variant	84660				CCDS9238.1	12q24.31	2009-08-18			ENSG00000130783	ENSG00000130783			30723	protein-coding gene	gene with protein product	"cancer/testis antigen 109"	613481				18563714, 19126643	Standard	NM_201435		Approved	TSP-NY, FLJ40344, CT109, ERAP75	uc001udc.3	Q6P9F0	OTTHUMG00000168764	ENST00000253079.6:c.862-1A>T	12.37:g.123282632A>T			A8K8V1|B3KUP3|Q6ZVF2|Q86VJ0|Q9BYZ5	Missense_Mutation	SNP	ENST00000253079.6	37	CCDS9238.1	.	.	.	.	.	.	.	.	.	.	A	18.50	3.636671	0.67130	.	.	ENSG00000130783	ENST00000253079;ENST00000392441;ENST00000537566;ENST00000392440	T;T;T;T	0.56103	1.11;1.11;0.48;0.48	5.46	4.11	0.48088	.	0.098893	0.42682	D	0.000680	T	0.64670	0.2619	M	0.65498	2.005	0.80722	D	1	P;P;D	0.71674	0.741;0.928;0.998	P;P;D	0.69654	0.448;0.603;0.965	T	0.64918	-0.6294	9	.	.	.	-18.2933	7.848	0.29437	0.8933:0.0:0.1067:0.0	.	288;49;288	Q6P9F0-2;Q6P9F0-3;Q6P9F0	.;.;CCD62_HUMAN	F	288;288;49;49	ENSP00000253079:I288F;ENSP00000376236:I288F;ENSP00000445045:I49F;ENSP00000376235:I49F	.	I	+	1	0	CCDC62	121848585	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	2.487000	0.45268	2.073000	0.62155	0.467000	0.42956	ATT		0.313	CCDC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400930.1	NM_032573	Missense_Mutation	T	123282632	A	T	123282632	5	4	730	1	0	0	0	0	0	0	1	0	2835	347	12	5	892	5	CCDC62	12	123282632	Splice_Site	SNP	A	TCGA-KN-8424-01A-11D-2310-10	47386876	123282632	10569263	62	41095											
SCFD1	23256	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	14	31107412	31107412	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr14:31107412A>G	ENST00000458591.2	+	5	621	c.394A>G	c.(394-396)Aat>Gat	p.N132D	SCFD1_ENST00000544052.2_Missense_Mutation_p.N65D|SCFD1_ENST00000421551.3_Missense_Mutation_p.N73D|SCFD1_ENST00000541123.1_5'UTR|SCFD1_ENST00000396629.2_Missense_Mutation_p.N40D	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	132					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)		AGATATTGCAAATGCAGCGTT	0.323																																																0													67	61	63					14																	31107412		2203	4300	6503	SO:0001583	missense	23256			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.394A>G	14.37:g.31107412A>G	ENSP00000390783:p.Asn132Asp		A8K2Z5|B7Z4U7|B7Z594|O60754|O94990|Q7Z529|Q9BZI3|Q9UNL3|Q9Y6A8	Missense_Mutation	SNP	ENST00000458591.2	37	CCDS9639.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.964404	0.74131	.	.	ENSG00000092108	ENST00000458591;ENST00000544052;ENST00000421551;ENST00000557076;ENST00000396629	T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-1.0	5.75	5.75	0.90469	.	0.048137	0.85682	D	0.000000	T	0.68988	0.3061	L	0.36672	1.1	0.80722	D	1	B;B;B	0.23806	0.091;0.019;0.001	B;B;B	0.29440	0.102;0.05;0.027	T	0.67825	-0.5570	10	0.72032	D	0.01	-19.7473	15.2403	0.73465	1.0:0.0:0.0:0.0	.	73;65;132	B7Z738;B7Z4U7;Q8WVM8	.;.;SCFD1_HUMAN	D	132;65;73;107;40	ENSP00000390783:N132D;ENSP00000443010:N65D;ENSP00000388078:N73D;ENSP00000450755:N107D;ENSP00000379870:N40D	ENSP00000309417:N140D	N	+	1	0	SCFD1	30177163	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.796000	0.69080	2.185000	0.69588	0.533000	0.62120	AAT		0.323	SCFD1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276612.3	NM_182835		G	31107412	A	G	31107412	3	3	730	1	0	0	0	0	1	0	0	0	13895	14	1	3	412	3	SCFD1	14	31107412	Missense_Mutation	SNP	A	TCGA-KN-8424-01A-11D-2310-10		31107412	76242128	63	41096											
JAG2	3714	mdanderson.org	37	14	105609335	105609335	+	Silent	SNP	A	A	G	rs10149229	byFrequency	TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr14:105609335A>G	ENST00000331782.3	-	26	3817	c.3414T>C	c.(3412-3414)atT>atC	p.I1138I	JAG2_ENST00000347004.2_Silent_p.I1100I	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	1138					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)		CCGGCCGCTCAATGGGGTTGC	0.726													G|||	3455	0.689896	0.8941	0.6571	5008	,	,		10693	0.5337		0.66	False		,,,				2504	0.6288															0								G	,	3661,665		1557,547,59	17	20	19		3414,3300	-1.2	1	14	dbSNP_119	19	5713,2733		1963,1787,473	no	coding-synonymous,coding-synonymous	JAG2	NM_002226.3,NM_145159.1	,	3520,2334,532	GG,GA,AA		32.3585,15.3722,26.6051	,	1138/1239,1100/1201	105609335	9374,3398	2163	4223	6386	SO:0001819	synonymous_variant	3714			AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.3414T>C	14.37:g.105609335A>G			Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Silent	SNP	ENST00000331782.3	37	CCDS9998.1																																																																																				0.726	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2			G	105609335	A	G	105609335	2	3	730	1	0	0	0	0	0	0	0	1	7937	126	5	3		3	JAG2	14	105609335	Silent	SNP	A	TCGA-KN-8424-01A-11D-2310-10	74501923	105609335	1740205	64	41097											
CACNA1H	8912	broad.mit.edu	37	16	1265531	1265531	+	Silent	SNP	C	C	T			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr16:1265531C>T	ENST00000348261.5	+	30	5430	c.5182C>T	c.(5182-5184)Ctg>Ttg	p.L1728L	CACNA1H_ENST00000358590.4_Silent_p.L1722L|CACNA1H_ENST00000565831.1_Silent_p.L1722L	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1728					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)	AGTGCTGAAGCTGCTGAAGAT	0.721																																																0													28	32	31					16																	1265531		2042	4180	6222	SO:0001819	synonymous_variant	8912			AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.5182C>T	16.37:g.1265531C>T			B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Silent	SNP	ENST00000348261.5	37	CCDS45375.1																																																																																				0.721	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		T	1265531	C	T	1265531	2	4	730	1	0	0	0	0	0	0	0	1	2547	796	28	2		2	CACNA1H	16	1265531	Silent	SNP	C	TCGA-KN-8424-01A-11D-2310-10		1265531	89089222	65	41098											
CACNA1H	8912	mdanderson.org	37	16	1268485	1268485	+	Silent	SNP	C	C	T	rs2738891	byFrequency	TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr16:1268485C>T	ENST00000348261.5	+	33	5969	c.5721C>T	c.(5719-5721)ggC>ggT	p.G1907G	CACNA1H_ENST00000358590.4_Silent_p.G1901G|CACNA1H_ENST00000565831.1_Silent_p.G1901G	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1907					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)	AGAGTCCGGGCGCCAGGGACG	0.692													C|||	449	0.0896565	0.0113	0.0605	5008	,	,		14302	0.0317		0.1133	False		,,,				2504	0.2515															0								C	,	94,3926		0,94,1916	22	29	27		5703,5721	-3	0	16	dbSNP_100	27	969,7165		49,871,3147	no	coding-synonymous,coding-synonymous	CACNA1H	NM_001005407.1,NM_021098.2	,	49,965,5063	TT,TC,CC		11.913,2.3383,8.7461	,	1901/2348,1907/2354	1268485	1063,11091	2010	4067	6077	SO:0001819	synonymous_variant	8912			AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.5721C>T	16.37:g.1268485C>T			B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Silent	SNP	ENST00000348261.5	37	CCDS45375.1																																																																																				0.692	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		T	1268485	C	T	1268485	2	4	730	1	0	0	0	0	0	0	0	1	2547	755	27	1		1	CACNA1H	16	1268485	Silent	SNP	C	TCGA-KN-8424-01A-11D-2310-10	2954	1268485	89086268	66	41099											
TP53	7157	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	17	7574017	7574017	+	Missense_Mutation	SNP	C	C	T	rs121912664		TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr17:7574017C>T	ENST00000269305.4	-	10	1199	c.1010G>A	c.(1009-1011)cGc>cAc	p.R337H	TP53_ENST00000420246.2_3'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.R337H|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000359597.4_Intron|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	337	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:9452042}.|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:11481490}.|R -> L (in sporadic cancers; somatic mutation).|R -> P (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.R337L(15)|p.0?(8)|p.R337H(4)|p.I332fs*5(1)|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)	CATCTCGAAGCGCTCACGCCC	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)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	29	Substitution - Missense(19)|Whole gene deletion(8)|Unknown(1)|Deletion - Frameshift(1)	lung(8)|liver(8)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|central_nervous_system(2)|stomach(1)|breast(1)	GRCh37	CM012663	TP53	M	rs121912664						57	45	49					17																	7574017		2203	4300	6503	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.1010G>A	17.37:g.7574017C>T	ENSP00000269305:p.Arg337His		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	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.565214	0.45694	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	D;D	0.95171	-3.63;-3.63	5.43	3.45	0.39498	p53, tetramerisation domain (3);	0.000000	0.85682	D	0.000000	D	0.95063	0.8401	M	0.73598	2.24	0.40311	D	0.97871	D	0.53462	0.96	P	0.53146	0.719	D	0.94086	0.7348	10	0.62326	D	0.03	-7.3279	9.8868	0.41266	0.0:0.8331:0.0:0.1669	.	337	P04637	P53_HUMAN	H	337;337;326	ENSP00000269305:R337H;ENSP00000391478:R337H	ENSP00000269305:R337H	R	-	2	0	TP53	7514742	0.593000	0.26840	0.008000	0.14137	0.280000	0.26924	0.875000	0.28079	0.671000	0.31185	0.561000	0.74099	CGC		0.527	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7574017	C	T	7574017	3	4	730	1	0	0	0	0	1	0	0	0	16386	768	27	1	179	1	TP53	17	7574017	Missense_Mutation	SNP	C	TCGA-KN-8424-01A-11D-2310-10		7574017	73621193	67	41100											
TP53	7157	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	17	7578403	7578403	+	Missense_Mutation	SNP	C	C	A			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr17:7578403C>A	ENST00000269305.4	-	5	716	c.527G>T	c.(526-528)tGc>tTc	p.C176F	TP53_ENST00000420246.2_Missense_Mutation_p.C176F|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.C176F|TP53_ENST00000455263.2_Missense_Mutation_p.C176F|TP53_ENST00000359597.4_Missense_Mutation_p.C176F|TP53_ENST00000413465.2_Missense_Mutation_p.C176F	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)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	267	Substitution - Missense(224)|Deletion - Frameshift(18)|Deletion - In frame(13)|Whole gene deletion(8)|Complex - deletion inframe(3)|Insertion - Frameshift(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)											49	49	49					17																	7578403		2203	4300	6503	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.527G>T	17.37:g.7578403C>A	ENSP00000269305:p.Cys176Phe		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	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.433429	0.83776	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99982	-10.61;-10.61;-10.61;-10.61;-10.61;-10.61;-10.61;-10.61	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;0.994;0.996;0.998;0.997;0.995;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;.;.	F	176;176;176;176;176;176;165;83;44;83;44	ENSP00000410739:C176F;ENSP00000352610:C176F;ENSP00000269305:C176F;ENSP00000398846:C176F;ENSP00000391127:C176F;ENSP00000391478:C176F;ENSP00000425104:C44F;ENSP00000423862:C83F	ENSP00000269305:C176F	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		A	7578403	C	A	7578403	3	1	730	1	0	0	0	0	1	0	0	0	16386	710	25	4	771	4	TP53	17	7578403	Missense_Mutation	SNP	C	TCGA-KN-8424-01A-11D-2310-10	4386	7578403	73616807	68	41101											
LLGL2	3993	broad.mit.edu;hgsc.bcm.edu	37	17	73566231	73566231	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr17:73566231delT	ENST00000392550.3	+	15	1886	c.1769delT	c.(1768-1770)gtgfs	p.V591fs	LLGL2_ENST00000577200.1_Frame_Shift_Del_p.V591fs|LLGL2_ENST00000167462.5_Frame_Shift_Del_p.V591fs	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	591					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)			CCCCCGGCTGTGGTCACCTCC	0.672																																																0													32	26	28					17																	73566231		2188	4295	6483	SO:0001589	frameshift_variant	3993			X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"WD repeat domain containing"	6629	protein-coding gene	gene with protein product			"lethal giant larvae (Drosophila) homolog 2"				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.1769delT	17.37:g.73566231delT	ENSP00000376333:p.Val591fs		Q14521|Q9BR62	Frame_Shift_Del	DEL	ENST00000392550.3	37	CCDS32733.1																																																																																				0.672	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447633.1	NM_004524		-	73566231	T	-	73566231	7	5	730	1	0	1	0	1	0	0	0	0	8836	1696	59	0	1858	0	LLGL2	17	73566231	Frame_Shift_Del	DEL	T	TCGA-KN-8424-01A-11D-2310-10	65987828	73566231	7628979	69	41102	374	2									
LLGL2	3993	bcgsc.ca	37	17	73566232	73566232	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr17:73566232delT	ENST00000392550.3	+	15	1887	c.1770delT	c.(1768-1770)gttfs	p.V591fs	LLGL2_ENST00000577200.1_Frame_Shift_Del_p.V591fs|LLGL2_ENST00000167462.5_Frame_Shift_Del_p.V591fs	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	591					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)			CCCCGGCTGTGGTCACCTCCT	0.672																																																0													32	26	28					17																	73566232		2189	4295	6484	SO:0001589	frameshift_variant	3993			X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"WD repeat domain containing"	6629	protein-coding gene	gene with protein product			"lethal giant larvae (Drosophila) homolog 2"				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.1770delT	17.37:g.73566232delT	ENSP00000376333:p.Val591fs		Q14521|Q9BR62	Frame_Shift_Del	DEL	ENST00000392550.3	37	CCDS32733.1																																																																																				0.672	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447633.1	NM_004524		-	73566232	T	-	73566232	7	5	730	1	0	1	0	1	0	0	0	0	8836	1335	47	0	1859	0	LLGL2	17	73566232	Frame_Shift_Del	DEL	T	TCGA-KN-8424-01A-11D-2310-10	1	73566232	7628978	70	41103	374	2									
UNC13D	201294	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	17	73826730	73826730	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr17:73826730C>T	ENST00000207549.4	-	28	3017	c.2638G>A	c.(2638-2640)Gac>Aac	p.D880N	UNC13D_ENST00000412096.2_Missense_Mutation_p.D880N	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	880	MHD2. {ECO:0000255|PROSITE- ProRule:PRU00588}.				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)			AGCTCCAGGTCCCTCTGCAGA	0.647									Familial Hemophagocytic Lymphohistiocytosis		OREG0024741	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													22	21	22					17																	73826730		2174	4254	6428	SO:0001583	missense	201294	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	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.2638G>A	17.37:g.73826730C>T	ENSP00000207549:p.Asp880Asn	1148	B4DWG9|Q9H7K5	Missense_Mutation	SNP	ENST00000207549.4	37	CCDS11730.1	.	.	.	.	.	.	.	.	.	.	C	12.94	2.087391	0.36855	.	.	ENSG00000092929	ENST00000207549;ENST00000412096	T;T	0.73469	-0.75;-0.75	4.71	2.59	0.31030	Mammalian uncoordinated homology 13, domain 2 (1);Mammalian uncoordinated homology 13, subgroup, domain 2 (1);	0.544272	0.19149	N	0.121481	T	0.57548	0.2061	N	0.25647	0.755	0.28887	N	0.894087	B	0.15930	0.015	B	0.13407	0.009	T	0.46133	-0.9213	10	0.18276	T	0.48	-0.9902	10.0074	0.41965	0.0:0.815:0.0:0.185	.	880	Q70J99	UN13D_HUMAN	N	880	ENSP00000207549:D880N;ENSP00000388093:D880N	ENSP00000207549:D880N	D	-	1	0	UNC13D	71338325	0.533000	0.26354	0.986000	0.45419	0.880000	0.50808	0.864000	0.27926	1.208000	0.43306	-0.448000	0.05591	GAC		0.647	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448847.2	XM_113950		T	73826730	C	T	73826730	3	4	730	1	0	0	0	0	1	0	0	0	16992	855	30	2	654	2	UNC13D	17	73826730	Missense_Mutation	SNP	C	TCGA-KN-8424-01A-11D-2310-10	260498	73826730	7368480	71	41104											
SFRS2	6427	ucsc.edu	37	17	74733037	74733037	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr17:74733037T>C	ENST00000392485.2	-	1	378	c.206A>G	c.(205-207)gAg>gGg	p.E69G	MFSD11_ENST00000593181.1_5'Flank|MFSD11_ENST00000590393.1_5'Flank|MFSD11_ENST00000588460.1_5'UTR|RP11-318A15.7_ENST00000587459.1_Intron|MIR636_ENST00000384825.1_RNA|MFSD11_ENST00000336509.4_5'Flank|MFSD11_ENST00000586622.1_5'UTR|SRSF2_ENST00000508921.3_Missense_Mutation_p.E69G|SRSF2_ENST00000359995.5_Missense_Mutation_p.E69G|MFSD11_ENST00000355954.3_5'Flank|MFSD11_ENST00000591864.1_5'UTR|MFSD11_ENST00000590514.1_5'Flank	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN	serine/arginine-rich splicing factor 2	69	RRM. {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)|regulation of RNA biosynthetic process (GO:2001141)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription corepressor activity (GO:0003714)			haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						CATAGCGTCCTCAGCGTCGCG	0.692			Mis		"MDS, CLL"																																		Dom	yes		17	17q25	6427	serine/arginine-rich splicing factor 2		L	0													31	36	34					17																	74733037		2201	4297	6498	SO:0001583	missense	6427			M90104	CCDS11749.1	17q25.2	2014-09-17	2010-06-22	2010-06-22	ENSG00000161547	ENSG00000161547		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10783	protein-coding gene	gene with protein product	"SR splicing factor 2"	600813	"splicing factor, arginine/serine-rich 2"	SFRS2		8530103, 20516191	Standard	NM_003016		Approved	SC-35, SC35, PR264, SFRS2A	uc002jsv.3	Q01130		ENST00000392485.2:c.206A>G	17.37:g.74733037T>C	ENSP00000376276:p.Glu69Gly		B3KWD5|B4DN89|H0YG49	Missense_Mutation	SNP	ENST00000392485.2	37	CCDS11749.1	.	.	.	.	.	.	.	.	.	.	T	16.31	3.088353	0.55968	.	.	ENSG00000161547	ENST00000452355;ENST00000392485;ENST00000508921;ENST00000358156;ENST00000359995	T;T;T	0.19250	2.16;2.16;2.16	4.18	4.18	0.49190	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.060490	0.64402	D	0.000006	T	0.45657	0.1353	M	0.87827	2.91	0.80722	D	1	P;P	0.42692	0.787;0.787	P;P	0.54889	0.636;0.763	T	0.53165	-0.8477	10	0.72032	D	0.01	.	12.9011	0.58125	0.0:0.0:0.0:1.0	.	69;69	B4DN89;Q01130	.;SRSF2_HUMAN	G	69;69;96;57;69	ENSP00000391278:E69G;ENSP00000376276:E69G;ENSP00000353089:E69G	ENSP00000350877:E57G	E	-	2	0	SRSF2	72244632	1.000000	0.71417	0.965000	0.40720	0.703000	0.40648	7.527000	0.81931	1.530000	0.49136	0.379000	0.24179	GAG		0.692	SRSF2-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437489.1	NM_003016		C	74733037	T	C	74733037	3	2	730	1	0	0	0	0	1	0	0	0	14181	1551	54	3	467	3	SFRS2	17	74733037	Missense_Mutation	SNP	T	TCGA-KN-8424-01A-11D-2310-10	906307	74733037	6462173	72	41105											
ZBTB7C	201501	mdanderson.org	37	18	45555829	45555829	+	Silent	SNP	T	T	C	rs7231151	byFrequency	TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr18:45555829T>C	ENST00000588982.1	-	4	2163	c.1662A>G	c.(1660-1662)acA>acG	p.T554T	ZBTB7C_ENST00000535628.2_Silent_p.T554T|ZBTB7C_ENST00000332053.2_Silent_p.T554T|ZBTB7C_ENST00000586438.1_Silent_p.T554T|ZBTB7C_ENST00000590800.1_Silent_p.T554T			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	554							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						GCTTCATCTGTGTCTCCTCGA	0.721													C|||	2061	0.411542	0.562	0.366	5008	,	,		9999	0.4673		0.2594	False		,,,				2504	0.3395															0								C		2040,2344		497,1046,649	12	12	12		1662	0.5	1	18	dbSNP_116	12	2358,6186		325,1708,2239	no	coding-synonymous	ZBTB7C	NM_001039360.2		822,2754,2888	CC,CT,TT		27.5983,46.5328,34.0192		554/620	45555829	4398,8530	2192	4272	6464	SO:0001819	synonymous_variant	201501			Y14591	CCDS32830.1	18q21.1	2013-01-08		2005-04-07	ENSG00000184828	ENSG00000184828		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	31700	protein-coding gene	gene with protein product			"zinc finger and BTB domain containing 36"	ZBTB36			Standard	NM_001039360		Approved	ZNF857C	uc002ldb.3	A1YPR0		ENST00000588982.1:c.1662A>G	18.37:g.45555829T>C			O73453	Silent	SNP	ENST00000588982.1	37	CCDS32830.1																																																																																				0.721	ZBTB7C-025	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450731.1	NM_001039360		C	45555829	T	C	45555829	2	2	730	1	0	0	0	0	0	0	0	1	17560	1683	59	3		3	ZBTB7C	18	45555829	Silent	SNP	T	TCGA-KN-8424-01A-11D-2310-10		45555829	32521419	73	41106											
NEDD4L	23327	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	18	56063457	56063457	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr18:56063457C>T	ENST00000400345.3	+	31	3167	c.2884C>T	c.(2884-2886)Ctc>Ttc	p.L962F	NEDD4L_ENST00000256832.7_Missense_Mutation_p.L822F|NEDD4L_ENST00000456173.2_Missense_Mutation_p.L821F|NEDD4L_ENST00000435432.2_Missense_Mutation_p.L821F|NEDD4L_ENST00000382850.4_Missense_Mutation_p.L942F|NEDD4L_ENST00000586263.1_Missense_Mutation_p.L934F|NEDD4L_ENST00000456986.1_Missense_Mutation_p.L841F|NEDD4L_ENST00000431212.2_Missense_Mutation_p.L841F|NEDD4L_ENST00000357895.5_Missense_Mutation_p.L954F|RP11-845C23.3_ENST00000590318.1_RNA|NEDD4L_ENST00000356462.6_Missense_Mutation_p.L898F|NEDD4L_ENST00000256830.9_Missense_Mutation_p.L858F|NEDD4L_ENST00000589054.1_Missense_Mutation_p.L93F	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	962	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cellular sodium ion homeostasis (GO:0006883)|excretion (GO:0007588)|gene expression (GO:0010467)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of systemic arterial blood pressure (GO:0003085)|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 cation channel activity (GO:2001259)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of sodium ion transport (GO:0010765)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|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 depolarization (GO:0003254)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of protein catabolic process (GO:0042176)|regulation of tight junction assembly (GO:2000810)|response to metal ion (GO:0010038)|response to salt stress (GO:0009651)|sodium ion transport (GO:0006814)|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)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|ventricular cardiac muscle cell action potential (GO:0086005)|viral life cycle (GO:0019058)|viral process (GO:0016032)|water homeostasis (GO:0030104)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ion channel binding (GO:0044325)|ligase activity (GO:0016874)|potassium channel inhibitor activity (GO:0019870)|potassium channel regulator activity (GO:0015459)|sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						AGAGAAACTTCTCATGGCCGT	0.453																																																0													103	88	93					18																	56063457		1868	4113	5981	SO:0001583	missense	23327			AF210730	CCDS45872.1, CCDS45873.1, CCDS45874.1, CCDS45875.1, CCDS45876.1, CCDS58632.1, CCDS59323.1	18q21.31	2014-08-12	2012-02-23		ENSG00000049759				7728	protein-coding gene	gene with protein product		606384	"neural precursor cell expressed, developmentally down-regulated 4-like"			10594025, 11244092, 18322022	Standard	NM_001144965		Approved	KIAA0439, RSP5, NEDD4-2	uc002lgy.3	Q96PU5	OTTHUMG00000179875	ENST00000400345.3:c.2884C>T	18.37:g.56063457C>T	ENSP00000383199:p.Leu962Phe		O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	Missense_Mutation	SNP	ENST00000400345.3	37	CCDS45872.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.080156	0.55753	.	.	ENSG00000049759	ENST00000400345;ENST00000382850;ENST00000356462;ENST00000256830;ENST00000256832;ENST00000456986;ENST00000357895;ENST00000435432;ENST00000456173;ENST00000431212	T;T;T;T;T;T;T;T;T;T	0.61859	0.07;0.07;0.07;0.07;0.07;0.07;0.07;0.07;0.07;0.07	5.77	5.77	0.91146	HECT (4);	0.000000	0.85682	D	0.000000	T	0.79936	0.4532	M	0.86097	2.795	0.80722	D	1	D;P;D;D;D;D	0.71674	0.965;0.943;0.996;0.998;0.972;0.965	P;P;P;D;P;P	0.72075	0.522;0.522;0.798;0.976;0.653;0.522	T	0.80372	-0.1410	10	0.54805	T	0.06	.	20.3472	0.98799	0.0:1.0:0.0:0.0	.	934;954;821;898;962;942	Q96PU5-6;Q96PU5-7;Q3LSM7;Q96PU5-2;Q96PU5;Q96PU5-5	.;.;.;.;NED4L_HUMAN;.	F	962;942;898;858;822;841;954;821;821;841	ENSP00000383199:L962F;ENSP00000372301:L942F;ENSP00000348847:L898F;ENSP00000256830:L858F;ENSP00000256832:L822F;ENSP00000411947:L841F;ENSP00000350569:L954F;ENSP00000393395:L821F;ENSP00000405440:L821F;ENSP00000389406:L841F	ENSP00000256830:L858F	L	+	1	0	NEDD4L	54214437	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.880000	0.69698	2.890000	0.99128	0.650000	0.86243	CTC		0.453	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448749.1			T	56063457	C	T	56063457	3	4	730	1	0	0	0	0	1	0	0	0	10313	913	32	2	3034	2	NEDD4L	18	56063457	Missense_Mutation	SNP	C	TCGA-KN-8424-01A-11D-2310-10	10507628	56063457	22013791	74	41107											
NFATC1	4772	mdanderson.org	37	18	77171061	77171061	+	Silent	SNP	T	T	G	rs2230112	byFrequency	TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr18:77171061T>G	ENST00000427363.2	+	2	786	c.786T>G	c.(784-786)ccT>ccG	p.P262P	NFATC1_ENST00000318065.5_Silent_p.P249P|NFATC1_ENST00000592223.1_Silent_p.P249P|NFATC1_ENST00000586434.1_Silent_p.P249P|NFATC1_ENST00000587635.1_Silent_p.P262P|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000542384.1_Silent_p.P262P|NFATC1_ENST00000591814.1_Silent_p.P262P|NFATC1_ENST00000329101.4_Silent_p.P249P|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000253506.5_Silent_p.P262P			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	262	3 X SP repeats.				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)	CCGCGTCCCCTTGCAACAAGA	0.721													G|||	2958	0.590655	0.1483	0.768	5008	,	,		13414	0.8562		0.7018	False		,,,				2504	0.6748				GBM(151;1210 2593 28719 45011)											0								G	,,,,	1124,3252		179,766,1243	14	16	15		786,747,,747,786	-1.8	0.1	18	dbSNP_98	15	5959,2571		2120,1719,426	no	coding-synonymous,coding-synonymous,intron,coding-synonymous,coding-synonymous	NFATC1	NM_006162.3,NM_172387.1,NM_172388.1,NM_172389.1,NM_172390.1	,,,,	2299,2485,1669	GG,GT,TT		30.1407,25.6856,45.1185	,,,,	262/826,249/931,,249/813,262/717	77171061	7083,5823	2188	4265	6453	SO:0001819	synonymous_variant	4772			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.786T>G	18.37:g.77171061T>G			B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Silent	SNP	ENST00000427363.2	37																																																																																					0.721	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	NM_172390		G	77171061	T	G	77171061	2	3	730	1	0	0	0	0	0	0	0	1	10363	1596	56	5		5	NFATC1	18	77171061	Silent	SNP	T	TCGA-KN-8424-01A-11D-2310-10	21107604	77171061	906187	75	41108											
C19orf26	255057	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	19	1236022	1236022	+	Silent	SNP	C	C	T			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr19:1236022C>T	ENST00000382477.2	-	2	334	c.60G>A	c.(58-60)tcG>tcA	p.S20S	C19orf26_ENST00000215376.6_Silent_p.S20S|C19orf26_ENST00000590083.1_Silent_p.S26S|AC004221.2_ENST00000592843.1_lincRNA			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	20	Thr-rich.					integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CATTGTCCCACGACGTCGTCA	0.687										HNSCC(14;0.022)																																						0													50	38	42					19																	1236022		2201	4297	6498	SO:0001819	synonymous_variant	255057			BC028156	CCDS12057.1, CCDS12057.2	19p13.3	2012-10-24			ENSG00000099625	ENSG00000099625			28617	protein-coding gene	gene with protein product	"downstream of STK11"					12477932	Standard	NM_152769		Approved	MGC40084, DOS	uc002lrm.3	Q8N350	OTTHUMG00000180141	ENST00000382477.2:c.60G>A	19.37:g.1236022C>T			O43385	Silent	SNP	ENST00000382477.2	37																																																																																					0.687	C19orf26-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_152769		T	1236022	C	T	1236022	2	4	730	1	0	0	0	0	0	0	0	1	1918	523	19	1		1	C19orf26	19	1236022	Silent	SNP	C	TCGA-KN-8424-01A-11D-2310-10		1236022	57892961	76	41109											
ARHGEF18	23370	broad.mit.edu	37	19	7504944	7504944	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr19:7504944G>A	ENST00000359920.6	+	1	371	c.118G>A	c.(118-120)Gcc>Acc	p.A40T	ARHGEF18_ENST00000319670.9_Intron|CTD-2207O23.3_ENST00000593531.1_Intron	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	40					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)				AAACGGCGCAGCCCAGCCTGG	0.662																																																0													24	24	24					19																	7504944		692	1591	2283	SO:0001583	missense	23370			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.118G>A	19.37:g.7504944G>A	ENSP00000352995:p.Ala40Thr		A8MV62|B5ME81|O60274|Q6DD92	Missense_Mutation	SNP	ENST00000359920.6	37	CCDS45946.1	.	.	.	.	.	.	.	.	.	.	G	11.66	1.704937	0.30232	.	.	ENSG00000104880	ENST00000359920	T	0.34072	1.38	5.23	2.92	0.33932	.	1.322080	0.05826	U	0.616753	T	0.24812	0.0602	N	0.24115	0.695	0.09310	N	0.999999	B	0.30068	0.267	B	0.22386	0.039	T	0.24083	-1.0170	10	0.87932	D	0	-3.5629	6.1624	0.20372	0.0:0.2002:0.5654:0.2344	.	40	Q6ZSZ5	ARHGI_HUMAN	T	40	ENSP00000352995:A40T	ENSP00000352995:A40T	A	+	1	0	ARHGEF18	7410944	0.005000	0.15991	0.006000	0.13384	0.435000	0.31806	1.277000	0.33167	1.172000	0.42781	0.561000	0.74099	GCC		0.662	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436340.1	NM_015318		A	7504944	G	A	7504944	3	1	730	1	0	0	0	0	1	0	0	0	901	971	34	2	120	2	ARHGEF18	19	7504944	Missense_Mutation	SNP	G	TCGA-KN-8424-01A-11D-2310-10	6268922	7504944	51624039	77	41110											
MUC16	94025	mdanderson.org	37	19	9018476	9018476	+	Silent	SNP	G	G	A	rs112059772		TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr19:9018476G>A	ENST00000397910.4	-	24	37901	c.37698C>T	c.(37696-37698)tcC>tcT	p.S12566S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12568	SEA 4. {ECO:0000255|PROSITE- ProRule:PRU00188}.				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						TGAACTTCCTGGAGCCAGGGC	0.557																																																0																																										SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.37698C>T	19.37:g.9018476G>A			Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																				0.557	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	9018476	G	A	9018476	2	1	730	1	0	0	0	0	0	0	0	1	9975	1335	47	2		2	MUC16	19	9018476	Silent	SNP	G	TCGA-KN-8424-01A-11D-2310-10	1513532	9018476	50110507	78	41111											
COL5A3	50509	mdanderson.org	37	19	10077419	10077419	+	Missense_Mutation	SNP	C	C	G	rs3745584	byFrequency	TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr19:10077419C>G	ENST00000264828.3	-	63	4547	c.4462G>C	c.(4462-4464)Gcc>Ccc	p.A1488P		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1488	Collagen-like 6.|Triple-helical region.		A -> P (in dbSNP:rs3745584).		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)			TCGGCAGGGGCACCCTGGGCG	0.672													G|||	1834	0.366214	0.1392	0.3329	5008	,	,		12299	0.5337		0.3509	False		,,,				2504	0.5399															0								G	PRO/ALA	480,3178		43,394,1392	3	3	3		4462	2	0.4	19	dbSNP_107	3	2011,5393		291,1429,1982	yes	missense	COL5A3	NM_015719.3	27	334,1823,3374	GG,GC,CC		27.161,13.1219,22.5185	benign	1488/1746	10077419	2491,8571	1829	3702	5531	SO:0001583	missense	50509			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.4462G>C	19.37:g.10077419C>G	ENSP00000264828:p.Ala1488Pro		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	CCDS12222.1	769	0.35210622710622713	68	0.13821138211382114	124	0.3425414364640884	313	0.5472027972027972	264	0.3482849604221636	G	0.046	-1.264850	0.01433	0.131219	0.27161	ENSG00000080573	ENST00000264828	D	0.88046	-2.33	4.18	2.01	0.26516	.	0.342020	0.26627	N	0.023334	T	0.00012	0.0000	N	0.02403	-0.565	0.45676	P	0.0014079999999999648	B	0.02656	0.0	B	0.01281	0.0	T	0.37454	-0.9705	9	0.02654	T	1	.	4.0727	0.09889	0.2249:0.1938:0.5813:0.0	rs3745584;rs61076096;rs3745584	1488	P25940	CO5A3_HUMAN	P	1488	ENSP00000264828:A1488P	ENSP00000264828:A1488P	A	-	1	0	COL5A3	9938419	0.322000	0.24634	0.402000	0.26371	0.167000	0.22549	0.127000	0.15790	0.080000	0.16959	-0.368000	0.07277	GCC		0.672	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		G	10077419	C	G	10077419	3	3	730	1	0	0	0	0	1	0	0	0	3700	710	25	4	795	4	COL5A3	19	10077419	Missense_Mutation	SNP	C	TCGA-KN-8424-01A-11D-2310-10	1058943	10077419	49051564	79	41112											
KANK2	25959	mdanderson.org	37	19	11303943	11303943	+	Silent	SNP	A	A	G	rs3745681	byFrequency	TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr19:11303943A>G	ENST00000586659.1	-	4	1127	c.813T>C	c.(811-813)gtT>gtC	p.V271V	KANK2_ENST00000355150.5_Silent_p.V271V|KANK2_ENST00000432929.2_Silent_p.V271V|KANK2_ENST00000589894.1_Silent_p.V271V|KANK2_ENST00000589359.1_Silent_p.V271V			Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	271					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CCCGTTCTCGAACCCAGGTGC	0.692													G|||	2531	0.505391	0.6483	0.4265	5008	,	,		15958	0.4514		0.3787	False		,,,				2504	0.5542															0								G	,	2625,1773		791,1043,365	26	28	27		813,813	-2.5	0.9	19	dbSNP_107	27	3333,5259		652,2029,1615	no	coding-synonymous,coding-synonymous	KANK2	NM_001136191.2,NM_015493.6	,	1443,3072,1980	GG,GA,AA		38.7919,40.3138,45.8661	,	271/852,271/860	11303943	5958,7032	2199	4296	6495	SO:0001819	synonymous_variant	25959			AK000011	CCDS12255.1, CCDS54219.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000197256		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	29300	protein-coding gene	gene with protein product		614610	"matrix-remodelling associated 3", "ankyrin repeat domain 25"	MXRA3, ANKRD25		10819331, 17996375, 19554261	Standard	NM_015493		Approved	KIAA1518	uc002mqm.3	Q63ZY3		ENST00000586659.1:c.813T>C	19.37:g.11303943A>G			B0I1P4|Q3KQZ3|Q6GUF5|Q9H8S4|Q9NUP0|Q9P210	Silent	SNP	ENST00000586659.1	37	CCDS12255.1																																																																																				0.692	KANK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453066.2	NM_015493		G	11303943	A	G	11303943	2	3	730	1	0	0	0	0	0	0	0	1	7979	233	9	3		3	KANK2	19	11303943	Silent	SNP	A	TCGA-KN-8424-01A-11D-2310-10	1226524	11303943	47825040	80	41113											
GDF15	9518	mdanderson.org	37	19	18499238	18499238	+	Silent	SNP	G	G	T	rs1804826	byFrequency	TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr19:18499238G>T	ENST00000252809.3	+	2	452	c.420G>T	c.(418-420)ccG>ccT	p.P140P	MIR3189_ENST00000578735.1_RNA	NM_004864.2	NP_004855.2	Q99988	GDF15_HUMAN	growth differentiation factor 15	140					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cytokine activity (GO:0005125)			kidney(2)|large_intestine(1)|liver(1)|lung(5)|prostate(2)|skin(1)	12						TGACACGACCGCTGCGGCGTC	0.716											OREG0025363	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1323	0.264177	0.1611	0.3573	5008	,	,		13438	0.4276		0.2475	False		,,,				2504	0.1861															0								G		677,3579		70,537,1521	10	12	12		420	-0.5	0	19	dbSNP_89	12	1879,6511		245,1389,2561	no	coding-synonymous	GDF15	NM_004864.2		315,1926,4082	TT,TG,GG		22.3957,15.907,20.2119		140/309	18499238	2556,10090	2128	4195	6323	SO:0001819	synonymous_variant	9518			BC008962	CCDS12376.1	19p13.11	2008-05-14				ENSG00000130513			30142	protein-coding gene	gene with protein product	"prostate differentiation factor"	605312				11895857, 9593718	Standard	NM_004864		Approved	PLAB, MIC-1, PDF, MIC1, NAG-1, PTGFB	uc002niv.2	Q99988		ENST00000252809.3:c.420G>T	19.37:g.18499238G>T		726	O14629|P78360|Q9BWA0|Q9NRT0	Silent	SNP	ENST00000252809.3	37	CCDS12376.1																																																																																				0.716	GDF15-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466340.2	NM_004864		T	18499238	G	T	18499238	2	4	730	1	0	0	0	0	0	0	0	1	6315	1074	38	4		4	GDF15	19	18499238	Silent	SNP	G	TCGA-KN-8424-01A-11D-2310-10	7195295	18499238	40629745	81	41114											
CIC	23152	ucsc.edu	37	19	42791707	42791707	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr19:42791707A>G	ENST00000575354.2	+	5	633	c.593A>G	c.(592-594)gAc>gGc	p.D198G	CIC_ENST00000572681.2_Missense_Mutation_p.D1107G|CIC_ENST00000160740.3_Missense_Mutation_p.D198G	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	198					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)				CGGGAGAAGGACCACATCCGG	0.622			"Mis, F, S"		oligodendroglioma																																		Rec	yes		19	19q13.2	23152	capicua homolog		O	0													68	73	71					19																	42791707		2203	4300	6503	SO:0001583	missense	23152			AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"capicua (Drosophila) homolog", "capicua homolog (Drosophila)"			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.593A>G	19.37:g.42791707A>G	ENSP00000458663:p.Asp198Gly		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	A	17.22	3.333647	0.60853	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	4.39	0.52855	High mobility group, superfamily (1);	.	.	.	.	T	0.61451	0.2348	N	0.26130	0.795	0.52099	D	0.999944	D	0.67145	0.996	D	0.68039	0.955	T	0.65586	-0.6132	8	0.87932	D	0	-18.5985	11.626	0.51145	1.0:0.0:0.0:0.0	.	198	Q96RK0	CIC_HUMAN	G	198	.	ENSP00000160740:D198G	D	+	2	0	CIC	47483547	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.740000	0.74832	1.853000	0.53794	0.454000	0.30748	GAC		0.622	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			G	42791707	A	G	42791707	3	3	730	1	0	0	0	0	1	0	0	0	3426	275	10	3	611	3	CIC	19	42791707	Missense_Mutation	SNP	A	TCGA-KN-8424-01A-11D-2310-10	24292469	42791707	16337276	82	41115											
SIGLEC1	6614	broad.mit.edu;bcgsc.ca	37	20	3669873	3669873	+	Splice_Site	SNP	T	T	C			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr20:3669873T>C	ENST00000344754.4	-	20	4998	c.4999A>G	c.(4999-5001)Agg>Ggg	p.R1667G	SIGLEC1_ENST00000202578.4_Intron	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1667					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						ACACGCCTCCTTCTGCAAGGC	0.587																																																0													179	158	165					20																	3669873		2203	4300	6503	SO:0001630	splice_region_variant	6614			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.4998-1A>G	20.37:g.3669873T>C			Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	T	13.86	2.363971	0.41902	.	.	ENSG00000088827	ENST00000344754	T	0.33216	1.42	5.13	4.02	0.46733	.	0.364252	0.20218	N	0.096755	T	0.21590	0.0520	L	0.29908	0.895	0.52501	D	0.999954	B	0.23058	0.079	B	0.19391	0.025	T	0.04767	-1.0928	10	0.62326	D	0.03	.	7.7455	0.28866	0.0:0.0965:0.0:0.9035	.	1667	Q9BZZ2	SN_HUMAN	G	1667	ENSP00000341141:R1667G	ENSP00000341141:R1667G	R	-	1	2	SIGLEC1	3617873	0.158000	0.22850	0.548000	0.28192	0.080000	0.17528	1.044000	0.30329	0.895000	0.36342	0.533000	0.62120	AGG		0.587	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068	Missense_Mutation	C	3669873	T	C	3669873	5	2	730	1	0	0	0	0	0	0	1	0	14311	1623	56	3	138	3	SIGLEC1	20	3669873	Splice_Site	SNP	T	TCGA-KN-8424-01A-11D-2310-10		3669873	59355647	83	41116											
SGK2	10110	bcgsc.ca	37	20	42199308	42199308	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr20:42199308T>C	ENST00000341458.4	+	6	811	c.592T>C	c.(592-594)Ttc>Ctc	p.F198L	SGK2_ENST00000426287.1_Missense_Mutation_p.F164L|SGK2_ENST00000373092.3_Missense_Mutation_p.F138L|SGK2_ENST00000373100.1_Missense_Mutation_p.F138L|SGK2_ENST00000423407.3_Missense_Mutation_p.F138L|SGK2_ENST00000485914.1_3'UTR|SGK2_ENST00000373077.1_Missense_Mutation_p.F137L	NM_016276.3	NP_057360.2	Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	198	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|ion transmembrane transport (GO:0034220)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CCGGGCCAGGTTCTACGCTGC	0.627																																																0													57	60	59					20																	42199308		2203	4300	6503	SO:0001583	missense	10110			AF169034	CCDS13320.1, CCDS13321.1	20q13.2	2008-07-04			ENSG00000101049	ENSG00000101049			13900	protein-coding gene	gene with protein product		607589				10548550	Standard	NM_016276		Approved		uc002xkv.3	Q9HBY8	OTTHUMG00000033054	ENST00000341458.4:c.592T>C	20.37:g.42199308T>C	ENSP00000340608:p.Phe198Leu		Q52PK5|Q5H8Y6|Q5H8Z1|Q5TZR3|Q9UKG6	Missense_Mutation	SNP	ENST00000341458.4	37	CCDS13320.1	.	.	.	.	.	.	.	.	.	.	T	34	5.328708	0.95733	.	.	ENSG00000101049	ENST00000373100;ENST00000373092;ENST00000373077;ENST00000412111;ENST00000423407;ENST00000341458;ENST00000426287	T;T;T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13	4.92	4.92	0.64577	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	0.75243	0.3823	L	0.59912	1.85	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	0.77448	-0.2584	10	0.62326	D	0.03	.	14.235	0.65919	0.0:0.0:0.0:1.0	.	164;198;138	Q9HBY8-3;Q9HBY8;Q9HBY8-2	.;SGK2_HUMAN;.	L	138;138;137;137;138;198;164	ENSP00000362192:F138L;ENSP00000362184:F138L;ENSP00000362168:F137L;ENSP00000396222:F137L;ENSP00000392795:F138L;ENSP00000340608:F198L;ENSP00000412214:F164L	ENSP00000340608:F198L	F	+	1	0	SGK2	41632722	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	7.860000	0.86993	2.148000	0.66965	0.533000	0.62120	TTC		0.627	SGK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080383.1			C	42199308	T	C	42199308	3	2	730	1	0	0	0	0	1	0	0	0	14215	1725	60	3	614	3	SGK2	20	42199308	Missense_Mutation	SNP	T	TCGA-KN-8424-01A-11D-2310-10	38529435	42199308	20826212	84	41117											
TMPRSS15	5651	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	21	19770214	19770214	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr21:19770214G>T	ENST00000284885.3	-	3	359	c.326C>A	c.(325-327)tCa>tAa	p.S109*		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	109	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)			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						TAAAACTCTTGAGTTCTTATA	0.244																																																0													16	17	17					21																	19770214		2136	4209	6345	SO:0001587	stop_gained	5651				CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"Serine peptidases / Transmembrane"	9490	protein-coding gene	gene with protein product	"proenterokinase", "enteropeptidase"	606635	"protease, serine, 7 (enterokinase)"	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.326C>A	21.37:g.19770214G>T	ENSP00000284885:p.Ser109*		Q2NKL7	Nonsense_Mutation	SNP	ENST00000284885.3	37	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	G	36	5.729406	0.96856	.	.	ENSG00000154646	ENST00000284885;ENST00000422787	.	.	.	4.78	4.78	0.61160	.	0.078927	0.53938	D	0.000051	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4889	0.61382	0.0:0.0:1.0:0.0	.	.	.	.	X	109;64	.	.	S	-	2	0	TMPRSS15	18692085	1.000000	0.71417	0.914000	0.36105	0.985000	0.73830	2.024000	0.41049	2.625000	0.88918	0.643000	0.83706	TCA		0.244	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		T	19770214	G	T	19770214	4	4	730	1	0	0	0	0	0	1	0	0	16251	1294	45	4	2825	4	TMPRSS15	21	19770214	Nonsense_Mutation	SNP	G	TCGA-KN-8424-01A-11D-2310-10		19770214	28359681	85	41118											
OSM	5008	broad.mit.edu	37	22	30661055	30661055	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr22:30661055A>G	ENST00000215781.2	-	2	153	c.113T>C	c.(112-114)cTc>cCc	p.L38P	OSM_ENST00000403389.1_Missense_Mutation_p.L17P|OSM_ENST00000403463.1_Intron	NM_020530.4	NP_065391.1	P13725	ONCM_HUMAN	oncostatin M	38					behavioral response to pain (GO:0048266)|cell proliferation (GO:0008283)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|negative regulation of cell proliferation (GO:0008285)|negative regulation of hormone secretion (GO:0046888)|negative regulation of meiosis (GO:0045835)|peripheral nervous system development (GO:0007422)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of growth (GO:0040008)|response to heat (GO:0009408)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	extracellular space (GO:0005615)|oncostatin-M receptor complex (GO:0005900)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|oncostatin-M receptor binding (GO:0005147)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|skin(3)	11			Epithelial(10;0.206)			CTGGCCAAGGAGCACGCGGTA	0.577																																																0													143	132	136					22																	30661055		2203	4300	6503	SO:0001583	missense	5008			AF129855	CCDS13873.1	22q12.2	2011-07-21			ENSG00000099985	ENSG00000099985			8506	protein-coding gene	gene with protein product		165095				1717982	Standard	NM_020530		Approved	MGC20461	uc003ahb.3	P13725	OTTHUMG00000150913	ENST00000215781.2:c.113T>C	22.37:g.30661055A>G	ENSP00000215781:p.Leu38Pro		Q6FHP8|Q9UCP6	Missense_Mutation	SNP	ENST00000215781.2	37	CCDS13873.1	.	.	.	.	.	.	.	.	.	.	A	17.04	3.286191	0.59867	.	.	ENSG00000099985	ENST00000215781;ENST00000403389	T	0.62941	-0.01	3.69	3.69	0.42338	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.000000	0.33496	N	0.004844	T	0.66636	0.2809	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68800	-0.5313	10	0.87932	D	0	-31.3671	9.04	0.36311	1.0:0.0:0.0:0.0	.	38	P13725	ONCM_HUMAN	P	38;17	ENSP00000215781:L38P	ENSP00000215781:L38P	L	-	2	0	OSM	28991055	0.980000	0.34600	0.641000	0.29422	0.074000	0.17049	2.556000	0.45862	1.922000	0.55676	0.459000	0.35465	CTC		0.577	OSM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320512.1	NM_020530		G	30661055	A	G	30661055	3	3	730	1	0	0	0	0	1	0	0	0	11293	304	11	3	653	3	OSM	22	30661055	Missense_Mutation	SNP	A	TCGA-KN-8424-01A-11D-2310-10		30661055	20643511	86	41119											
BRD1	23774	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	22	50187922	50187922	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr22:50187922C>T	ENST00000216267.8	-	6	2605	c.2119G>A	c.(2119-2121)Gcc>Acc	p.A707T	BRD1_ENST00000342989.5_Missense_Mutation_p.A302T|BRD1_ENST00000542442.1_Missense_Mutation_p.A395T|BRD1_ENST00000404760.1_Missense_Mutation_p.A707T|BRD1_ENST00000457780.2_Missense_Mutation_p.A707T|BRD1_ENST00000404034.1_Missense_Mutation_p.A707T	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	707					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)		GCTCTGTTGGCGGGGTCCAGC	0.602																																																0													59	64	62					22																	50187922		2203	4300	6503	SO:0001583	missense	23774			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.2119G>A	22.37:g.50187922C>T	ENSP00000216267:p.Ala707Thr		A6ZJA4	Missense_Mutation	SNP	ENST00000216267.8	37	CCDS14080.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.002749	0.74932	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000457780;ENST00000542442;ENST00000342989;ENST00000419212	T;T;T;T;T;T	0.27557	2.6;2.6;2.58;2.42;1.66;2.02	5.4	5.4	0.78164	.	0.098489	0.64402	D	0.000001	T	0.28699	0.0711	M	0.73598	2.24	0.58432	D	0.999998	P;P;P;P	0.46656	0.812;0.597;0.456;0.882	B;B;B;B	0.33799	0.082;0.048;0.082;0.17	T	0.13495	-1.0507	10	0.22706	T	0.39	.	12.5109	0.56005	0.0:0.9236:0.0:0.0764	.	707;302;707;707	Q86X06;B7Z926;O95696;O95696-2	.;.;BRD1_HUMAN;.	T	707;707;707;707;395;302;167	ENSP00000216267:A707T;ENSP00000384076:A707T;ENSP00000385858:A707T;ENSP00000410042:A707T;ENSP00000437514:A395T;ENSP00000345886:A302T	ENSP00000216267:A707T	A	-	1	0	BRD1	48573926	1.000000	0.71417	0.988000	0.46212	0.981000	0.71138	5.876000	0.69667	2.524000	0.85096	0.655000	0.94253	GCC		0.602	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	NM_014577		T	50187922	C	T	50187922	3	4	730	1	0	0	0	0	1	0	0	0	1503	768	27	1	1085	1	BRD1	22	50187922	Missense_Mutation	SNP	C	TCGA-KN-8424-01A-11D-2310-10	19526867	50187922	1116644	87	41120											
SHROOM2	357	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	X	9905226	9905226	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chrX:9905226A>G	ENST00000380913.3	+	7	3730	c.3640A>G	c.(3640-3642)Atc>Gtc	p.I1214V	SHROOM2_ENST00000418909.2_Missense_Mutation_p.I49V	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1214					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)				GCCCATCAAGATCGTGCACTC	0.592																																																0													46	32	37					X																	9905226		2202	4298	6500	SO:0001583	missense	357			X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"apical protein, Xenopus laevis-like", "apical protein-like (Xenopus laevis)"	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.3640A>G	X.37:g.9905226A>G	ENSP00000370299:p.Ile1214Val		B9EIQ7	Missense_Mutation	SNP	ENST00000380913.3	37	CCDS14135.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.075380	0.76415	.	.	ENSG00000146950	ENST00000380913;ENST00000418909;ENST00000452575;ENST00000540923	T;T;T	0.58210	1.95;1.03;0.35	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.67059	0.2853	L	0.61218	1.895	0.49483	D	0.99979	D;D	0.67145	0.996;0.985	P;D	0.67548	0.878;0.952	T	0.65940	-0.6046	10	0.33940	T	0.23	-14.2064	14.0878	0.64971	1.0:0.0:0.0:0.0	.	49;1214	Q68DU3;Q13796	.;SHRM2_HUMAN	V	1214;49;49;49	ENSP00000370299:I1214V;ENSP00000415229:I49V;ENSP00000406724:I49V	ENSP00000370299:I1214V	I	+	1	0	SHROOM2	9865226	1.000000	0.71417	0.998000	0.56505	0.939000	0.58152	8.769000	0.91742	1.704000	0.51252	0.481000	0.45027	ATC		0.592	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	NM_001649		G	9905226	A	G	9905226	3	3	730	1	0	0	0	0	1	0	0	0	14300	333	12	3	3666	3	SHROOM2	23	9905226	Missense_Mutation	SNP	A	TCGA-KN-8424-01A-11D-2310-10		9905226	145365334	88	41121											
WWC3	55841	mdanderson.org	37	X	10085674	10085674	+	Silent	SNP	T	T	C	rs6530368	byFrequency	TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chrX:10085674T>C	ENST00000380861.4	+	11	1966	c.1575T>C	c.(1573-1575)gaT>gaC	p.D525D	WWC3_ENST00000454666.1_Silent_p.D525D	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	525					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						TCCCCGGGGATGGGGAAGGGC	0.701													C|||	3621	0.959205	0.7572	0.7089	3775	,	,		10616	0.7579		0.663	False		,,,				2504	0.7127															0								C		3391,72		1436,59,460,0,13	6	6	6		1575	-8.5	0	X	dbSNP_116	6	5349,820		1737,497,1378,39,245	no	coding-synonymous	WWC3	NM_015691.3		3173,556,1838,39,258	CC,CT,C,TT,T		13.2923,2.0791,9.2608		525/1093	10085674	8740,892	1968	3896	5864	SO:0001819	synonymous_variant	55841			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.1575T>C	X.37:g.10085674T>C			A8KA96|Q659C1|Q9BTQ1	Silent	SNP	ENST00000380861.4	37	CCDS14136.1																																																																																				0.701	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	NM_015691		C	10085674	T	C	10085674	2	2	730	1	0	0	0	0	0	0	0	1	17418	1461	51	3		3	WWC3	23	10085674	Silent	SNP	T	TCGA-KN-8424-01A-11D-2310-10	180448	10085674	145184886	89	41122											
RPGR	6103	broad.mit.edu	37	X	38145385	38145385	+	Intron	DEL	T	T	-			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chrX:38145385delT	ENST00000339363.3	-	14	2688				TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000378505.2_Frame_Shift_Del_p.E956fs|RPGR_ENST00000342811.3_Intron|RPGR_ENST00000338898.3_Intron|RPGR_ENST00000318842.7_Intron|RPGR_ENST00000309513.3_Intron			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator						cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						ctcttccccctcccattctcc	0.617																																																0			GRCh37	CD070508	orf15	D							5	3	4					X																	38145385		1668	3072	4740	SO:0001627	intron_variant	6103			U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"retinitis pigmentosa 15", "cone dystrophy 1 (X-linked)"	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.2520+961A>-	X.37:g.38145385delT			B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Frame_Shift_Del	DEL	ENST00000339363.3	37																																																																																					0.617	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000328		-	38145385	T	-	38145385	6	5	730	0	1	1	0	1	0	0	0	0	13554	1551	54	0		0	RPGR	23	38145385	Intron	DEL	T	TCGA-KN-8424-01A-11D-2310-10	28059711	38145385	117125175	90	41123											
SLC16A2	6567	mdanderson.org	37	X	73641569	73641569	+	Missense_Mutation	SNP	T	T	C	rs6647476		TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chrX:73641569T>C	ENST00000587091.1	+	1	274	c.97T>C	c.(97-99)Tct>Cct	p.S33P	SLC16A2_ENST00000276033.5_Missense_Mutation_p.S107P	NM_006517.4	NP_006508.2	P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	33					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)	Agagccggagtctgagccgga	0.741													C|||	2506	0.663841	0.531	0.3084	3775	,	,		5534	0.7361		0.333	False		,,,				2504	0.5245															0								-	PRO/SER	2247,1352		641,640,325,282,148	6	6	6	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	319		0.1	X	dbSNP_116	6	2383,4050		356,1012,659,1004,1030	yes	missense	SLC16A2	NM_006517.3	74	997,1652,984,1286,1178	CC,CT,C,TT,T		37.0434,37.566,46.1523	possibly-damaging	107/614	73641569	4630,5402	2036	4061	6097	SO:0001583	missense	6567				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.97T>C	X.37:g.73641569T>C	ENSP00000465734:p.Ser33Pro		Q7Z797	Missense_Mutation	SNP	ENST00000587091.1	37	CCDS14426.2	1048	0.6317058468957203	190	0.5828220858895705	71	0.2305194805194805	278	0.9586206896551724	182	0.3063973063973064	C	0.001	-3.547578	0.00009	0.62434	0.370434	ENSG00000147100	ENST00000276033	T	0.69306	-0.39	.	.	.	.	0.660363	0.13427	N	0.388737	T	0.00012	0.0000	N	0.00419	-1.52	0.80722	P	0.0	P	0.47604	0.898	B	0.42959	0.403	T	0.50651	-0.8803	7	0.18710	T	0.47	.	.	.	.	rs6647476	33	P36021	MOT8_HUMAN	P	107	ENSP00000276033:S107P	ENSP00000276033:S107P	S	+	1	0	SLC16A2	73558294	0.057000	0.20700	0.097000	0.21041	0.047000	0.14425	-0.390000	0.07332	-0.420000	0.07427	0.000000	0.15137	TCT		0.741	SLC16A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057266.3			C	73641569	T	C	73641569	3	2	730	1	0	0	0	0	1	0	0	0	14414	1667	58	3	321	3	SLC16A2	23	73641569	Missense_Mutation	SNP	T	TCGA-KN-8424-01A-11D-2310-10	35496184	73641569	81628991	91	41124											
BRS3	680	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	X	135570529	135570529	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chrX:135570529A>G	ENST00000370648.3	+	1	484	c.256A>G	c.(256-258)Atc>Gtc	p.I86V	Z97632.1_ENST00000580943.1_RNA	NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN	bombesin-like receptor 3	86					adult feeding behavior (GO:0008343)|glucose metabolic process (GO:0006006)|regulation of blood pressure (GO:0008217)	integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)			endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					AAATATTTTCATCACCAGCCT	0.418																																																0													151	134	139					X																	135570529		2203	4300	6503	SO:0001583	missense	680				CCDS14656.1	Xq26.3	2014-02-21			ENSG00000102239	ENSG00000102239		"GPCR / Class A : Bombesin receptors"	1113	protein-coding gene	gene with protein product		300107				8383682	Standard	NM_001727		Approved	BB3	uc004ezv.1	P32247	OTTHUMG00000022726	ENST00000370648.3:c.256A>G	X.37:g.135570529A>G	ENSP00000359682:p.Ile86Val			Missense_Mutation	SNP	ENST00000370648.3	37	CCDS14656.1	.	.	.	.	.	.	.	.	.	.	A	15.78	2.935780	0.52972	.	.	ENSG00000102239	ENST00000370648	T	0.40225	1.04	5.67	5.67	0.87782	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	T	0.60560	0.2278	M	0.67953	2.075	0.46564	D	0.999101	D	0.58620	0.983	P	0.62014	0.897	T	0.63795	-0.6556	10	0.62326	D	0.03	-16.6344	14.8936	0.70627	1.0:0.0:0.0:0.0	.	86	P32247	BRS3_HUMAN	V	86	ENSP00000359682:I86V	ENSP00000359682:I86V	I	+	1	0	BRS3	135398195	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.040000	0.64191	1.899000	0.54978	0.486000	0.48141	ATC		0.418	BRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059005.1	NM_001727		G	135570529	A	G	135570529	3	3	730	1	0	0	0	0	1	0	0	0	1524	217	8	3	258	3	BRS3	23	135570529	Missense_Mutation	SNP	A	TCGA-KN-8424-01A-11D-2310-10	61928960	135570529	19700031	92	41125											
ABCD1	215	mdanderson.org	37	X	153008476	153008476	+	Missense_Mutation	SNP	T	T	C	rs201774661		TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chrX:153008476T>C	ENST00000218104.3	+	8	2215	c.1816T>C	c.(1816-1818)Tcg>Ccg	p.S606P	U52111.14_ENST00000434284.1_RNA	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	606	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.		S -> L (in ALD; decreased ATP-binding affinity). {ECO:0000269|PubMed:8040304}.|S -> P (in ALD; CALD, AMN and ALMD- types). {ECO:0000269|PubMed:21700483, ECO:0000269|PubMed:21889498}.		alpha-linolenic acid metabolic process (GO:0036109)|ATP catabolic process (GO:0006200)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|linoleic acid metabolic process (GO:0043651)|long-chain fatty acid catabolic process (GO:0042758)|peroxisomal long-chain fatty acid import (GO:0015910)|peroxisomal membrane transport (GO:0015919)|peroxisome organization (GO:0007031)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid catabolic process (GO:0042760)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|peroxisomal fatty-acyl-CoA transporter activity (GO:0005325)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)	p.S606P(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGACGTCCTGTCGGGTGGCGA	0.657																																																1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	GRCh37	CM960043	ABCD1	M																																				SO:0001583	missense	215			Z21876	CCDS14728.1	Xq28	2012-03-14			ENSG00000101986	ENSG00000101986		"ATP binding cassette transporters / subfamily D"	61	protein-coding gene	gene with protein product		300371		ALD		8441467, 6795626	Standard	NM_000033		Approved	AMN, ALDP, adrenoleukodystrophy	uc004fif.2	P33897	OTTHUMG00000024215	ENST00000218104.3:c.1816T>C	X.37:g.153008476T>C	ENSP00000218104:p.Ser606Pro		Q6GTZ2	Missense_Mutation	SNP	ENST00000218104.3	37	CCDS14728.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.307005	0.81247	.	.	ENSG00000101986	ENST00000218104	D	0.99957	-8.99	5.46	5.46	0.80206	ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.64402	D	0.000009	D	0.99964	0.9986	H	0.99357	4.53	0.80722	D	1	D	0.56521	0.976	P	0.59546	0.859	D	0.96145	0.9103	10	0.87932	D	0	-5.1669	13.4857	0.61364	0.0:0.0:0.0:1.0	.	606	P33897	ABCD1_HUMAN	P	606	ENSP00000218104:S606P	ENSP00000218104:S606P	S	+	1	0	ABCD1	152661670	1.000000	0.71417	0.058000	0.19502	0.765000	0.43378	5.967000	0.70403	1.827000	0.53221	0.350000	0.21858	TCG		0.657	ABCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061041.1	NM_000033		C	153008476	T	C	153008476	3	2	730	1	0	0	0	0	1	0	0	0	60	1667	58	3	1846	3	ABCD1	23	153008476	Missense_Mutation	SNP	T	TCGA-KN-8424-01A-11D-2310-10	17437947	153008476	2262084	93	41126	375	2									
ABCD1	215	mdanderson.org	37	X	153008483	153008483	+	Missense_Mutation	SNP	G	G	A	rs78993751		TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chrX:153008483G>A	ENST00000218104.3	+	8	2222	c.1823G>A	c.(1822-1824)gGc>gAc	p.G608D	U52111.14_ENST00000434284.1_RNA	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	608	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.		G -> D (in ALD; CALD-type). {ECO:0000269|PubMed:11438993}.		alpha-linolenic acid metabolic process (GO:0036109)|ATP catabolic process (GO:0006200)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|linoleic acid metabolic process (GO:0043651)|long-chain fatty acid catabolic process (GO:0042758)|peroxisomal long-chain fatty acid import (GO:0015910)|peroxisomal membrane transport (GO:0015919)|peroxisome organization (GO:0007031)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid catabolic process (GO:0042760)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|peroxisomal fatty-acyl-CoA transporter activity (GO:0005325)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGTCGGGTGGCGAGAAGCAG	0.652																																																0			GRCh37	CM012040	ABCD1	M	rs78993751																																			SO:0001583	missense	215			Z21876	CCDS14728.1	Xq28	2012-03-14			ENSG00000101986	ENSG00000101986		"ATP binding cassette transporters / subfamily D"	61	protein-coding gene	gene with protein product		300371		ALD		8441467, 6795626	Standard	NM_000033		Approved	AMN, ALDP, adrenoleukodystrophy	uc004fif.2	P33897	OTTHUMG00000024215	ENST00000218104.3:c.1823G>A	X.37:g.153008483G>A	ENSP00000218104:p.Gly608Asp		Q6GTZ2	Missense_Mutation	SNP	ENST00000218104.3	37	CCDS14728.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.864716	0.91511	.	.	ENSG00000101986	ENST00000218104	D	0.99981	-10.31	5.46	5.46	0.80206	ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.64402	D	0.000002	D	0.99984	0.9995	H	0.98178	4.165	0.09310	P	1.0	D	0.89917	1.0	D	0.91635	0.999	D	0.99264	1.0891	9	0.87932	D	0	-31.6285	17.0243	0.86441	0.0:0.0:1.0:0.0	.	608	P33897	ABCD1_HUMAN	D	608	ENSP00000218104:G608D	ENSP00000218104:G608D	G	+	2	0	ABCD1	152661677	1.000000	0.71417	0.632000	0.29296	0.808000	0.45660	9.405000	0.97313	2.283000	0.76528	0.429000	0.28392	GGC		0.652	ABCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061041.1	NM_000033		A	153008483	G	A	153008483	3	1	730	1	0	0	0	0	1	0	0	0	60	1203	42	2	1853	2	ABCD1	23	153008483	Missense_Mutation	SNP	G	TCGA-KN-8424-01A-11D-2310-10	7	153008483	2262077	94	41127	375	2									
RPL11	6135	hgsc.bcm.edu	37	1	24021261	24021261	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr1:24021261delT	ENST00000374550.3	+	4	421	c.376delT	c.(376-378)tacfs	p.Y126fs	RPL11_ENST00000482370.1_3'UTR	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN	ribosomal protein L11	126					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein localization to nucleus (GO:0034504)|protein targeting (GO:0006605)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		CATTGGTATCTACGGCCTGGA	0.408																																																0													151	144	147					1																	24021261		2203	4300	6503	SO:0001589	frameshift_variant	6135			L05092	CCDS238.1	1p36.1-p35	2011-04-06			ENSG00000142676	ENSG00000142676		"L ribosomal proteins"	10301	protein-coding gene	gene with protein product		604175				9582194, 10343117	Standard	NM_000975		Approved	L11	uc001bhk.3	P62913	OTTHUMG00000002926	ENST00000374550.3:c.376delT	1.37:g.24021261delT	ENSP00000363676:p.Tyr126fs		P25121|P39026|Q8TDH2|Q9Y674	Frame_Shift_Del	DEL	ENST00000374550.3	37	CCDS238.1																																																																																				0.408	RPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008168.1	NM_000975		-	24021261	T	-	24021261	7	5	731	1	0	1	0	1	0	0	0	0	13563	1522	53	0	390	0	RPL11	1	24021261	Frame_Shift_Del	DEL	T	TCGA-KN-8425-01A-11D-2310-10		24021261	225229360	1	41128	376	2									
RPL11	6135	bcgsc.ca	37	1	24021262	24021262	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr1:24021262delT	ENST00000374550.3	+	4	422	c.377delT	c.(376-378)ttcfs	p.F126fs	RPL11_ENST00000482370.1_3'UTR	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN	ribosomal protein L11	126					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein localization to nucleus (GO:0034504)|protein targeting (GO:0006605)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		ATTGGTATCTACGGCCTGGAC	0.408																																																0													149	142	145					1																	24021262		2203	4300	6503	SO:0001589	frameshift_variant	6135			L05092	CCDS238.1	1p36.1-p35	2011-04-06			ENSG00000142676	ENSG00000142676		"L ribosomal proteins"	10301	protein-coding gene	gene with protein product		604175				9582194, 10343117	Standard	NM_000975		Approved	L11	uc001bhk.3	P62913	OTTHUMG00000002926	ENST00000374550.3:c.377delT	1.37:g.24021262delT	ENSP00000363676:p.Phe126fs		P25121|P39026|Q8TDH2|Q9Y674	Frame_Shift_Del	DEL	ENST00000374550.3	37	CCDS238.1																																																																																				0.408	RPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008168.1	NM_000975		-	24021262	T	-	24021262	7	5	731	1	0	1	0	1	0	0	0	0	13563	391	14	0	391	0	RPL11	1	24021262	Frame_Shift_Del	DEL	T	TCGA-KN-8425-01A-11D-2310-10	1	24021262	225229359	2	41129	376	2									
HRNR	388697	broad.mit.edu	37	1	152186038	152186038	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr1:152186038delA	ENST00000368801.2	-	3	8142	c.8067delT	c.(8065-8067)ggtfs	p.G2689fs	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2689					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)			CAGAAGAGTGACCCAAGCGAG	0.577																																																0													29	26	27					1																	152186038		1971	3911	5882	SO:0001589	frameshift_variant	388697			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.8067delT	1.37:g.152186038delA	ENSP00000357791:p.Gly2689fs		Q5DT20|Q5U1F4	Frame_Shift_Del	DEL	ENST00000368801.2	37	CCDS30859.1																																																																																				0.577	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		-	152186038	A	-	152186038	7	5	731	1	0	1	0	1	0	0	0	0	7361	262	10	0	489	0	HRNR	1	152186038	Frame_Shift_Del	DEL	A	TCGA-KN-8425-01A-11D-2310-10	128164776	152186038	97064583	3	41130	377	3									
HRNR	388697	broad.mit.edu	37	1	152186041	152186042	+	Frame_Shift_Ins	INS	-	-	GG	rs12751022|rs555234935	byFrequency	TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr1:152186041_152186042insGG	ENST00000368801.2	-	3	8138_8139	c.8063_8064insCC	c.(8062-8064)ttgfs	p.L2688fs	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2688				L -> S (in Ref. 1; BAC57496). {ECO:0000305}.	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.L2688S(1)|p.L2688F(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)			AAGAGTGACCCAAGCGAGACTC	0.584																																																2	Substitution - Missense(2)	prostate(1)|lung(1)																																								SO:0001589	frameshift_variant	388697			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.8063_8064insCC	1.37:g.152186041_152186042insGG	ENSP00000357791:p.Leu2688fs		Q5DT20|Q5U1F4	Frame_Shift_Ins	INS	ENST00000368801.2	37	CCDS30859.1																																																																																				0.584	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		GG	152186042	-	GG	152186041	7	5	731	1	0	1	1	0	0	0	0	0	7361	593	21	0	492	0	HRNR	1	152186041	Frame_Shift_Ins	INS	-	TCGA-KN-8425-01A-11D-2310-10	3	152186041	97064580	4	41131	377	3									
HRNR	388697	broad.mit.edu	37	1	152186047	152186047	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr1:152186047delA	ENST00000368801.2	-	3	8133	c.8058delT	c.(8056-8058)tctfs	p.S2686fs	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2686					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)			GACCCAAGCGAGACTCATATG	0.587																																																0													27	24	25					1																	152186047		1883	3790	5673	SO:0001589	frameshift_variant	388697			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.8058delT	1.37:g.152186047delA	ENSP00000357791:p.Ser2686fs		Q5DT20|Q5U1F4	Frame_Shift_Del	DEL	ENST00000368801.2	37	CCDS30859.1																																																																																				0.587	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		-	152186047	A	-	152186047	7	5	731	1	0	1	0	1	0	0	0	0	7361	291	11	0	498	0	HRNR	1	152186047	Frame_Shift_Del	DEL	A	TCGA-KN-8425-01A-11D-2310-10	6	152186047	97064574	5	41132	377	3									
TGFB2	7042	bcgsc.ca	37	1	218520179	218520179	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr1:218520179A>G	ENST00000366930.4	+	1	603	c.136A>G	c.(136-138)Agc>Ggc	p.S46G	RP11-224O19.2_ENST00000414452.1_RNA|TGFB2_ENST00000366929.4_Missense_Mutation_p.S46G	NM_003238.3	NP_003229.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	46					activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cardioblast differentiation (GO:0010002)|cartilage condensation (GO:0001502)|catagen (GO:0042637)|cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|collagen fibril organization (GO:0030199)|dopamine biosynthetic process (GO:0042416)|embryo development (GO:0009790)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|face morphogenesis (GO:0060325)|generation of neurons (GO:0048699)|glial cell migration (GO:0008347)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hemopoiesis (GO:0030097)|menstrual cycle phase (GO:0022601)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune response (GO:0050777)|negative regulation of macrophage cytokine production (GO:0010936)|neuron development (GO:0048666)|neuron fate commitment (GO:0048663)|neutrophil chemotaxis (GO:0030593)|odontogenesis (GO:0042476)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activation-induced cell death of T cells (GO:0070237)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of catagen (GO:0051795)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of gene expression (GO:0010628)|positive regulation of heart contraction (GO:0045823)|positive regulation of immune response (GO:0050778)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of ossification (GO:0045778)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein secretion (GO:0050714)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of transforming growth factor beta2 production (GO:0032909)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to progesterone (GO:0032570)|response to wounding (GO:0009611)|salivary gland morphogenesis (GO:0007435)|signal transduction by phosphorylation (GO:0023014)|SMAD protein import into nucleus (GO:0007184)|somatic stem cell division (GO:0048103)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	axon (GO:0030424)|endosome (GO:0005768)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|platelet alpha granule lumen (GO:0031093)	beta-amyloid binding (GO:0001540)|cytokine activity (GO:0005125)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor binding (GO:0005160)|type II transforming growth factor beta receptor binding (GO:0005114)			breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		GCAGATCCTGAGCAAGCTGAA	0.592																																																0													79	81	80					1																	218520179		2203	4300	6503	SO:0001583	missense	7042			M19154	CCDS1521.1, CCDS44318.1	1q41	2014-01-30			ENSG00000092969	ENSG00000092969		"Endogenous ligands"	11768	protein-coding gene	gene with protein product	"prepro-transforming growth factor beta-2"	190220					Standard	NM_003238		Approved		uc001hln.3	P61812	OTTHUMG00000039521	ENST00000366930.4:c.136A>G	1.37:g.218520179A>G	ENSP00000355897:p.Ser46Gly		B4DKC5|P08112|Q15579|Q15581|Q4VAV9	Missense_Mutation	SNP	ENST00000366930.4	37	CCDS1521.1	.	.	.	.	.	.	.	.	.	.	A	32	5.138115	0.94560	.	.	ENSG00000092969	ENST00000366930;ENST00000366929	T;T	0.69806	-0.43;-0.43	5.98	5.98	0.97165	Transforming growth factor-beta, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.83778	0.5328	M	0.86268	2.805	0.80722	D	1	D;D;D	0.89917	0.991;0.999;1.0	D;D;D	0.79108	0.951;0.986;0.992	D	0.86378	0.1727	10	0.87932	D	0	.	16.4578	0.84025	1.0:0.0:0.0:0.0	.	46;46;47	P61812-2;P61812;Q59EG9	.;TGFB2_HUMAN;.	G	46	ENSP00000355897:S46G;ENSP00000355896:S46G	ENSP00000355896:S46G	S	+	1	0	TGFB2	216586802	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.305000	0.96197	2.288000	0.76882	0.482000	0.46254	AGC		0.592	TGFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095359.2	NM_003238		G	218520179	A	G	218520179	3	3	731	1	0	0	0	0	1	0	0	0	15823	304	11	3	138	3	TGFB2	1	218520179	Missense_Mutation	SNP	A	TCGA-KN-8425-01A-11D-2310-10	66334132	218520179	30730442	6	41133											
PLB1	151056	bcgsc.ca	37	2	28812354	28812354	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr2:28812354A>G	ENST00000327757.5	+	27	1897	c.1853A>G	c.(1852-1854)gAc>gGc	p.D618G	PLB1_ENST00000329020.6_Missense_Mutation_p.D306G|PLB1_ENST00000422425.2_Missense_Mutation_p.D607G	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	618	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)					GGGCGATATGACACAAGGGAA	0.478																																																0													132	116	122					2																	28812354		2203	4300	6503	SO:0001583	missense	151056				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.1853A>G	2.37:g.28812354A>G	ENSP00000330442:p.Asp618Gly		A8KAX2|Q53S03|Q8IUP7|Q96DP9	Missense_Mutation	SNP	ENST00000327757.5	37	CCDS33168.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.33|17.33	3.363343|3.363343	0.61513|0.61513	.|.	.|.	ENSG00000163803|ENSG00000163803	ENST00000327757;ENST00000422425;ENST00000436544;ENST00000329020|ENST00000404858	T;T;T;T|.	0.55930|.	0.49;0.49;0.49;0.49|.	5.99|5.99	5.99|5.99	0.97316|0.97316	Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);Lipase, GDSL (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78521|0.78521	0.4296|0.4296	M|M	0.85197|0.85197	2.74|2.74	0.80722|0.80722	D|D	1|1	D;D;D;P|.	0.89917|.	0.997;1.0;0.963;0.745|.	D;D;P;P|.	0.91635|.	0.98;0.999;0.779;0.74|.	T|T	0.80881|0.80881	-0.1184|-0.1184	10|5	0.33141|.	T|.	0.24|.	-35.3349|-35.3349	14.0175|14.0175	0.64533|0.64533	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	607;618;306;618|.	Q6P1J6-3;Q6P1J6-4;Q6P1J6-2;Q6P1J6|.	.;.;.;PLB1_HUMAN|.	G|A	618;607;328;306|606	ENSP00000330442:D618G;ENSP00000416440:D607G;ENSP00000392493:D328G;ENSP00000330729:D306G|.	ENSP00000330442:D618G|.	D|T	+|+	2|1	0|0	PLB1|PLB1	28665858|28665858	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.075000|0.075000	0.17131|0.17131	7.863000|7.863000	0.87023|0.87023	2.291000|2.291000	0.77112|0.77112	0.533000|0.533000	0.62120|0.62120	GAC|ACA		0.478	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2			G	28812354	A	G	28812354	3	3	731	1	0	0	0	0	1	0	0	0	12026	275	10	3	1992	3	PLB1	2	28812354	Missense_Mutation	SNP	A	TCGA-KN-8425-01A-11D-2310-10		28812354	214387019	7	41134											
PSD4	23550	broad.mit.edu	37	2	113940985	113940985	+	Missense_Mutation	SNP	C	C	T	rs148062987	byFrequency	TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr2:113940985C>T	ENST00000245796.6	+	2	1147	c.952C>T	c.(952-954)Cct>Tct	p.P318S	PSD4_ENST00000441564.3_Missense_Mutation_p.P318S	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	318					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCATTGTACCCCTCCATTCCC	0.617																																																0													61	52	55					2																	113940985		2203	4300	6503	SO:0001583	missense	23550			U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"Pleckstrin homology (PH) domain containing"	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.952C>T	2.37:g.113940985C>T	ENSP00000245796:p.Pro318Ser		A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Missense_Mutation	SNP	ENST00000245796.6	37	CCDS33276.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.488476	0.84854	.	.	ENSG00000125637	ENST00000245796;ENST00000441564	T;T	0.12465	2.78;2.68	5.83	5.83	0.93111	.	0.655300	0.14825	N	0.296217	T	0.27765	0.0683	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.984	T	0.00373	-1.1781	9	.	.	.	.	15.6209	0.76805	0.0:1.0:0.0:0.0	.	318;318	Q8NDX1-2;Q8NDX1	.;PSD4_HUMAN	S	318	ENSP00000245796:P318S;ENSP00000413997:P318S	.	P	+	1	0	PSD4	113657456	0.253000	0.23982	0.287000	0.24848	0.340000	0.28889	2.065000	0.41442	2.758000	0.94735	0.655000	0.94253	CCT		0.617	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	NM_012455		T	113940985	C	T	113940985	3	4	731	1	0	0	0	0	1	0	0	0	12654	623	22	2	954	2	PSD4	2	113940985	Missense_Mutation	SNP	C	TCGA-KN-8425-01A-11D-2310-10	85128631	113940985	129258388	8	41135											
SLC16A14	151473	bcgsc.ca	37	2	230911292	230911292	+	Missense_Mutation	SNP	C	C	A	rs62191755	byFrequency	TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr2:230911292C>A	ENST00000295190.4	-	4	1008	c.550G>T	c.(550-552)Gca>Tca	p.A184S		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	184						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)		CCGTACTCTGCGCACAGGTAC	0.572													C|||	45	0.00898562	0.003	0.0144	5008	,	,		19289	0.0		0.0258	False		,,,				2504	0.0051															0								C	SER/ALA	17,4389	24.3+/-50.5	0,17,2186	92	90	91		550	0.5	0.3	2	dbSNP_129	91	200,8400	87.1+/-149.5	1,198,4101	yes	missense	SLC16A14	NM_152527.4	99	1,215,6287	AA,AC,CC		2.3256,0.3858,1.6685	benign	184/511	230911292	217,12789	2203	4300	6503	SO:0001583	missense	151473			BN000146	CCDS2473.1	2q37.1	2013-07-18	2013-07-18		ENSG00000163053	ENSG00000163053		"Solute carriers"	26417	protein-coding gene	gene with protein product	"monocarboxylic acid transporter 14"		"solute carrier family 16 (monocarboxylic acid transporters), member 14"				Standard	NM_152527		Approved	FLJ30794, MCT14	uc002vqd.2	Q7RTX9	OTTHUMG00000133205	ENST00000295190.4:c.550G>T	2.37:g.230911292C>A	ENSP00000295190:p.Ala184Ser		A8KA08|Q53R92|Q96NI7	Missense_Mutation	SNP	ENST00000295190.4	37	CCDS2473.1	29	0.013278388278388278	4	0.008130081300813009	5	0.013812154696132596	0	0.0	20	0.026385224274406333	C	5.596	0.294816	0.10567	0.003858	0.023256	ENSG00000163053	ENST00000295190;ENST00000457406;ENST00000412034	T;T;T	0.55930	0.49;0.49;0.49	4.94	0.515	0.17013	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.712084	0.13251	N	0.402103	T	0.09730	0.0239	N	0.12422	0.21	0.09310	N	1	B;B	0.18310	0.027;0.027	B;B	0.24394	0.026;0.053	T	0.09751	-1.0660	10	0.23891	T	0.37	.	0.7198	0.00938	0.4247:0.2031:0.1266:0.2456	rs62191755	184;184	E7EMG7;Q7RTX9	.;MOT14_HUMAN	S	184	ENSP00000295190:A184S;ENSP00000400352:A184S;ENSP00000395775:A184S	ENSP00000295190:A184S	A	-	1	0	SLC16A14	230619536	0.007000	0.16637	0.290000	0.24890	0.940000	0.58332	0.271000	0.18626	0.229000	0.21039	0.655000	0.94253	GCA		0.572	SLC16A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256918.2	NM_152527		A	230911292	C	A	230911292	3	1	731	1	0	0	0	0	1	0	0	0	14413	768	27	4	990	4	SLC16A14	2	230911292	Missense_Mutation	SNP	C	TCGA-KN-8425-01A-11D-2310-10	116970307	230911292	12288081	9	41136											
DOCK3	1795	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	3	51251628	51251628	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr3:51251628G>A	ENST00000266037.9	+	14	1225	c.1202G>A	c.(1201-1203)aGg>aAg	p.R401K		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	401					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		ATATTTAATAGGGGATTGGCA	0.413																																																0													80	77	78					3																	51251628		1864	4117	5981	SO:0001583	missense	1795			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"dedicator of cyto-kinesis 3"			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.1202G>A	3.37:g.51251628G>A	ENSP00000266037:p.Arg401Lys		O15017	Missense_Mutation	SNP	ENST00000266037.9	37	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	G	18.48	3.633166	0.67015	.	.	ENSG00000088538	ENST00000266037	T	0.05382	3.45	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.08268	0.0206	L	0.47716	1.5	0.58432	D	0.999999	B	0.06786	0.001	B	0.08055	0.003	T	0.29366	-1.0014	10	0.11485	T	0.65	.	19.4352	0.94788	0.0:0.0:1.0:0.0	.	401	Q8IZD9	DOCK3_HUMAN	K	401	ENSP00000266037:R401K	ENSP00000266037:R401K	R	+	2	0	DOCK3	51226668	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.382000	0.79729	2.668000	0.90789	0.655000	0.94253	AGG		0.413	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		A	51251628	G	A	51251628	3	1	731	1	0	0	0	0	1	0	0	0	4690	1000	35	2	1256	2	DOCK3	3	51251628	Missense_Mutation	SNP	G	TCGA-KN-8425-01A-11D-2310-10		51251628	146770802	10	41137											
CNTN3	5067	broad.mit.edu	37	3	74570232	74570232	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr3:74570232A>G	ENST00000263665.6	-	1	59	c.32T>C	c.(31-33)cTt>cCt	p.L11P		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	11					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)		AATGAATGAAAGCAGGATCAA	0.343																																																0													82	82	82					3																	74570232		2203	4299	6502	SO:0001583	missense	5067			AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.32T>C	3.37:g.74570232A>G	ENSP00000263665:p.Leu11Pro		B9EK50|Q9H039	Missense_Mutation	SNP	ENST00000263665.6	37	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	A	8.229	0.804189	0.16467	.	.	ENSG00000113805	ENST00000263665	T	0.61859	0.07	5.2	5.2	0.72013	.	0.000000	0.56097	D	0.000021	T	0.55000	0.1893	M	0.68317	2.08	0.50632	D	0.999886	B	0.22480	0.07	B	0.18871	0.023	T	0.56238	-0.8012	10	0.52906	T	0.07	.	11.4879	0.50365	1.0:0.0:0.0:0.0	.	11	Q9P232	CNTN3_HUMAN	P	11	ENSP00000263665:L11P	ENSP00000263665:L11P	L	-	2	0	CNTN3	74652922	1.000000	0.71417	0.963000	0.40424	0.310000	0.27922	5.285000	0.65633	1.969000	0.57287	0.477000	0.44152	CTT		0.343	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		G	74570232	A	G	74570232	3	3	731	1	0	0	0	0	1	0	0	0	3644	72	3	3	3142	3	CNTN3	3	74570232	Missense_Mutation	SNP	A	TCGA-KN-8425-01A-11D-2310-10	23318604	74570232	123452198	11	41138											
ZBTB20	26137	broad.mit.edu	37	3	114070436	114070436	+	Silent	SNP	T	T	C			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr3:114070436T>C	ENST00000474710.1	-	4	667	c.489A>G	c.(487-489)ctA>ctG	p.L163L	ZBTB20_ENST00000481632.1_Silent_p.L90L|ZBTB20_ENST00000464560.1_Silent_p.L90L|ZBTB20_ENST00000357258.3_Silent_p.L90L|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20_ENST00000393785.2_Silent_p.L90L|ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000462705.1_Silent_p.L90L|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20_ENST00000471418.1_Silent_p.L90L	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	163	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)			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)		GCGAGACCCGTAGCACGCCGC	0.567																																					NSCLC(69;748 1344 9802 11203 30933)											0													81	69	73					3																	114070436		2203	4300	6503	SO:0001819	synonymous_variant	26137			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.489A>G	3.37:g.114070436T>C			Q63HP6|Q8N6R5|Q9Y410	Silent	SNP	ENST00000474710.1	37	CCDS54626.1																																																																																				0.567	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		C	114070436	T	C	114070436	2	2	731	1	0	0	0	0	0	0	0	1	17534	1625	57	3		3	ZBTB20	3	114070436	Silent	SNP	T	TCGA-KN-8425-01A-11D-2310-10	39500204	114070436	83951994	12	41139											
ARHGAP24	83478	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	4	86863259	86863259	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr4:86863259G>T	ENST00000395184.1	+	5	898	c.432G>T	c.(430-432)gaG>gaT	p.E144D	ARHGAP24_ENST00000395183.2_Missense_Mutation_p.E49D|ARHGAP24_ENST00000264343.4_Missense_Mutation_p.E51D|ARHGAP24_ENST00000503995.1_Missense_Mutation_p.E144D	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	144	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of ruffle assembly (GO:1900028)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|wound healing, spreading of epidermal cells (GO:0035313)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)	Rac GTPase activator activity (GO:0030675)			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		TTCGTTATGAGAAGAGATATG	0.448																																																0													86	84	85					4																	86863259		2203	4300	6503	SO:0001583	missense	83478			AK091196	CCDS3611.1, CCDS34025.1, CCDS43246.1	4q22.1	2013-01-10			ENSG00000138639	ENSG00000138639		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	25361	protein-coding gene	gene with protein product		610586				11230166, 15254788	Standard	NM_001042669		Approved	DKFZP564B1162, FLJ33877, FilGAP	uc003hpk.3	Q8N264	OTTHUMG00000130427	ENST00000395184.1:c.432G>T	4.37:g.86863259G>T	ENSP00000378611:p.Glu144Asp		Q4KMG1|Q6ZNV3|Q86TI5|Q86WE4|Q9H0T6	Missense_Mutation	SNP	ENST00000395184.1	37	CCDS34025.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.229271	0.58777	.	.	ENSG00000138639	ENST00000395184;ENST00000503995;ENST00000512201;ENST00000395183;ENST00000509300;ENST00000514229;ENST00000264343	T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95;0.95	5.98	4.24	0.50183	Rho GTPase-activating protein domain (2);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.54902	0.1887	L	0.51853	1.615	0.54753	D	0.999982	D;P;P;P	0.69078	0.997;0.931;0.849;0.694	D;P;B;P	0.66497	0.944;0.857;0.271;0.683	T	0.51639	-0.8680	10	0.41790	T	0.15	.	12.9494	0.58391	0.1326:0.0:0.8674:0.0	.	49;51;144;144	Q8N264-3;Q8N264-2;Q8N264;Q8N264-4	.;.;RHG24_HUMAN;.	D	144;144;49;49;18;59;51	ENSP00000378611:E144D;ENSP00000423206:E144D;ENSP00000426105:E49D;ENSP00000378610:E49D;ENSP00000424256:E18D;ENSP00000425589:E59D;ENSP00000264343:E51D	ENSP00000264343:E51D	E	+	3	2	ARHGAP24	87082283	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	1.880000	0.39628	0.841000	0.35020	0.650000	0.86243	GAG		0.448	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252815.2	NM_031305		T	86863259	G	T	86863259	3	4	731	1	0	0	0	0	1	0	0	0	873	933	33	4	562	4	ARHGAP24	4	86863259	Missense_Mutation	SNP	G	TCGA-KN-8425-01A-11D-2310-10		86863259	104291017	13	41140											
AFF1	4299	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	4	87967367	87967367	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr4:87967367C>T	ENST00000307808.6	+	2	487	c.67C>T	c.(67-69)Cgc>Tgc	p.R23C	AFF1_ENST00000544085.1_Intron|AFF1_ENST00000395146.4_Missense_Mutation_p.R30C	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	23					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		GAAGGAAAGACGCAACCAGGA	0.403																																																0													110	109	109					4																	87967367		2203	4300	6503	SO:0001583	missense	4299			L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2", "pre-B-cell monocytic leukemia partner 1"	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.67C>T	4.37:g.87967367C>T	ENSP00000305689:p.Arg23Cys		B4DTU1|E9PBM3	Missense_Mutation	SNP	ENST00000307808.6	37	CCDS3616.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.984267	0.74474	.	.	ENSG00000172493	ENST00000395146;ENST00000395142;ENST00000507468;ENST00000503477;ENST00000307808	T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.89072	0.6611	M	0.84683	2.71	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	D	0.90059	0.4155	10	0.87932	D	0	-27.6095	15.5699	0.76326	0.2016:0.7984:0.0:0.0	.	30;30;23;23;30	E9PBM3;B4DXZ8;Q14C88;P51825;B4DTU1	.;.;.;AFF1_HUMAN;.	C	30;30;30;30;23	ENSP00000378578:R30C;ENSP00000427593:R30C;ENSP00000424483:R30C;ENSP00000305689:R23C	ENSP00000305689:R23C	R	+	1	0	AFF1	88186391	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.919000	0.40015	2.854000	0.98071	0.655000	0.94253	CGC		0.403	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	NM_005935		T	87967367	C	T	87967367	3	4	731	1	0	0	0	0	1	0	0	0	356	536	19	1	115	1	AFF1	4	87967367	Missense_Mutation	SNP	C	TCGA-KN-8425-01A-11D-2310-10	1104108	87967367	103186909	14	41141											
IRF2	3660	broad.mit.edu	37	4	185339717	185339717	+	Missense_Mutation	SNP	C	C	A			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr4:185339717C>A	ENST00000393593.3	-	4	540	c.333G>T	c.(331-333)atG>atT	p.M111I	IRF2_ENST00000512020.1_5'UTR	NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	111					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		ATAGGGGCAGCATTCGGTAGA	0.403																																																0													152	145	148					4																	185339717		2203	4300	6503	SO:0001583	missense	3660				CCDS3835.1	4q34.1-q35.1	2008-07-29				ENSG00000168310			6117	protein-coding gene	gene with protein product		147576				2475256	Standard	NM_002199		Approved		uc003iwf.4	P14316		ENST00000393593.3:c.333G>T	4.37:g.185339717C>A	ENSP00000377218:p.Met111Ile		D6RCK5|H0Y8S3|Q6IAS7|Q96B99	Missense_Mutation	SNP	ENST00000393593.3	37	CCDS3835.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.1|23.1	4.378734|4.378734	0.82682|0.82682	.|.	.|.	ENSG00000168310|ENSG00000168310	ENST00000505067|ENST00000393593;ENST00000502750;ENST00000507523;ENST00000510814;ENST00000506230;ENST00000505316	.|D;D;D;D;D	.|0.97404	.|-4.37;-1.52;-4.37;-4.37;-4.37	4.98|4.98	4.98|4.98	0.66077|0.66077	.|Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (3);	.|0.073994	.|0.85682	.|D	.|0.000000	D|D	0.97096|0.97096	0.9051|0.9051	L|L	0.31207|0.31207	0.915|0.915	0.80722|0.80722	D|D	1|1	.|D	.|0.62365	.|0.991	.|D	.|0.70487	.|0.969	D|D	0.97237|0.97237	0.9888|0.9888	5|10	.|0.48119	.|T	.|0.1	-13.3126|-13.3126	18.7969|18.7969	0.91997|0.91997	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|111	.|P14316	.|IRF2_HUMAN	S|I	10|111;23;111;111;111;111	.|ENSP00000377218:M111I;ENSP00000423074:M23I;ENSP00000427204:M111I;ENSP00000424552:M111I;ENSP00000422860:M111I	.|ENSP00000377218:M111I	A|M	-|-	1|3	0|0	IRF2|IRF2	185576711|185576711	1.000000|1.000000	0.71417|0.71417	0.972000|0.972000	0.41901|0.41901	0.692000|0.692000	0.40212|0.40212	7.600000|7.600000	0.82769|0.82769	2.750000|2.750000	0.94351|0.94351	0.655000|0.655000	0.94253|0.94253	GCT|ATG		0.403	IRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361393.1			A	185339717	C	A	185339717	3	1	731	1	0	0	0	0	1	0	0	0	7830	710	25	4	740	4	IRF2	4	185339717	Missense_Mutation	SNP	C	TCGA-KN-8425-01A-11D-2310-10	97372350	185339717	5814559	15	41142											
ADAMTS12	81792	broad.mit.edu	37	5	33881393	33881393	+	Missense_Mutation	SNP	G	G	A	rs201373627		TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr5:33881393G>A	ENST00000504830.1	-	2	655	c.320C>T	c.(319-321)aCg>aTg	p.T107M	ADAMTS12_ENST00000515401.1_Missense_Mutation_p.T107M|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.T107M	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	107					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						TTGATTGACCGTCAAGTTAAA	0.478										HNSCC(64;0.19)			G|||	1	0.000199681	0.0	0.0	5008	,	,		20736	0.001		0.0	False		,,,				2504	0.0															0								G	MET/THR	0,4406		0,0,2203	125	120	121		320	5.7	1	5		121	1,8599	1.2+/-3.3	0,1,4299	no	missense	ADAMTS12	NM_030955.2	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	107/1595	33881393	1,13005	2203	4300	6503	SO:0001583	missense	81792			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"ADAM metallopeptidases with thrombospondin type 1 motif"	14605	protein-coding gene	gene with protein product		606184	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.320C>T	5.37:g.33881393G>A	ENSP00000422554:p.Thr107Met		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.556990	0.65425	0.0	1.16E-4	ENSG00000151388	ENST00000504830;ENST00000352040;ENST00000515401	T;T;T	0.06608	3.28;3.28;3.28	5.65	5.65	0.86999	Peptidase M12B, propeptide (1);	0.059724	0.64402	D	0.000004	T	0.27967	0.0689	M	0.73598	2.24	0.35388	D	0.79053	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.963;0.991;0.982	T	0.11060	-1.0603	10	0.87932	D	0	.	19.734	0.96193	0.0:0.0:1.0:0.0	.	107;107;107	P58397-3;D6REX0;P58397	.;.;ATS12_HUMAN	M	107	ENSP00000422554:T107M;ENSP00000344847:T107M;ENSP00000421638:T107M	ENSP00000344847:T107M	T	-	2	0	ADAMTS12	33917150	1.000000	0.71417	0.952000	0.39060	0.737000	0.42083	5.157000	0.64911	2.670000	0.90874	0.467000	0.42956	ACG		0.478	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		A	33881393	G	A	33881393	3	1	731	1	0	0	0	0	1	0	0	0	257	1145	40	1	4556	1	ADAMTS12	5	33881393	Missense_Mutation	SNP	G	TCGA-KN-8425-01A-11D-2310-10		33881393	147033867	16	41143											
ZNF391	346157	broad.mit.edu	37	6	27368216	27368216	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr6:27368216C>T	ENST00000244576.4	+	3	612	c.67C>T	c.(67-69)Caa>Taa	p.Q23*		NM_001076781.1	NP_001070249.1	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	23					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)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						AAACGAAGGCCAATTATCAAG	0.413																																																0													110	101	104					6																	27368216		1852	4099	5951	SO:0001587	stop_gained	346157			BC132797	CCDS43429.1	6p21	2013-01-08			ENSG00000124613	ENSG00000124613		"Zinc fingers, C2H2-type"	18779	protein-coding gene	gene with protein product							Standard	NM_001076781		Approved	dJ153G14.3	uc003njf.1	Q9UJN7	OTTHUMG00000014477	ENST00000244576.4:c.67C>T	6.37:g.27368216C>T	ENSP00000244576:p.Gln23*		B4DH77	Nonsense_Mutation	SNP	ENST00000244576.4	37	CCDS43429.1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.889974	0.33348	.	.	ENSG00000124613	ENST00000244576;ENST00000461521	.	.	.	3.74	0.479	0.16796	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	.	5.7265	0.18017	0.3487:0.5442:0.0:0.1071	.	.	.	.	X	23	.	ENSP00000244576:Q23X	Q	+	1	0	ZNF391	27476195	0.165000	0.22948	0.002000	0.10522	0.010000	0.07245	0.746000	0.26275	0.246000	0.21394	0.655000	0.94253	CAA		0.413	ZNF391-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040145.2	NM_001076781		T	27368216	C	T	27368216	4	4	731	1	0	0	0	0	0	1	0	0	17884	595	21	2	69	2	ZNF391	6	27368216	Nonsense_Mutation	SNP	C	TCGA-KN-8425-01A-11D-2310-10		27368216	143746851	17	41144											
HLA-A	3105	mdanderson.org	37	6	29912333	29912333	+	Missense_Mutation	SNP	C	C	T	rs3179982	byFrequency	TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr6:29912333C>T	ENST00000396634.1	+	7	1293	c.952C>T	c.(952-954)Ctt>Ttt	p.L318F	HLA-A_ENST00000376809.5_Missense_Mutation_p.L318F|HLA-A_ENST00000376802.2_Intron|HLA-A_ENST00000376806.5_Missense_Mutation_p.L318F			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	318					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CCTGGTTCTCCTTGGAGCTGT	0.592									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			c|||	2681	0.535343	0.6044	0.6023	5008	,	,		19739	0.4881		0.5229	False		,,,				2504	0.456															0								C	PHE/LEU	1582,1436		428,726,355	109	103	105		952	-1	0	6	dbSNP_105	105	2518,2900		666,1186,857	no	missense	HLA-A	NM_002116.7	22	1094,1912,1212	TT,TC,CC		46.4747,47.5812,48.6012	probably-damaging	318/366	29912333	4100,4336	1509	2709	4218	SO:0001583	missense	3105	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.952C>T	6.37:g.29912333C>T	ENSP00000379873:p.Leu318Phe		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	CCDS34373.1	1165	0.5334249084249084	307	0.6239837398373984	196	0.5414364640883977	273	0.4772727272727273	389	0.5131926121372031	.	3.888	-0.024559	0.07589	0.524188	0.464747	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809	T;T;T	0.00995	5.49;5.46;5.49	3.13	-0.987	0.10249	.	0.308416	0.17061	U	0.188566	T	0.01353	0.0044	.	.	.	0.80722	P	0.0	B;B;D;B;B	0.71674	0.0;0.0;0.998;0.0;0.0	B;B;D;B;B	0.81914	0.001;0.004;0.995;0.004;0.001	T	0.47222	-0.9134	8	0.87932	D	0	.	6.4125	0.21698	0.0:0.4707:0.0:0.5293	rs3179982;rs3205680;rs17405339;rs17851725;rs41552629	197;318;318;318;318	B4DVB9;P16188;Q5SRN5;P30455;P04439	.;1A30_HUMAN;.;1A36_HUMAN;1A03_HUMAN	F	318	ENSP00000379873:L318F;ENSP00000366002:L318F;ENSP00000366005:L318F	ENSP00000366002:L318F	L	+	1	0	HLA-A	30020312	0.000000	0.05858	0.001000	0.08648	0.016000	0.09150	-2.297000	0.01141	-0.224000	0.09928	-0.330000	0.08379	CTT		0.592	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		T	29912333	C	T	29912333	3	4	731	1	0	0	0	0	1	0	0	0	7197	681	24	2	970	2	HLA-A	6	29912333	Missense_Mutation	SNP	C	TCGA-KN-8425-01A-11D-2310-10	2544117	29912333	141202734	18	41145											
HLA-B	3106	mdanderson.org	37	6	31323262	31323262	+	Missense_Mutation	SNP	G	G	A	rs77665001	byFrequency	TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr6:31323262G>A	ENST00000412585.2	-	4	755	c.727C>T	c.(727-729)Cgg>Tgg	p.R243W		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	243	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						TCGCCATCCCGCTGCCAGGTC	0.597									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																																							0													95	88	90					6																	31323262		2203	4300	6503	SO:0001583	missense	3106	Familial Cancer Database	;Lichen Sclerosis, Familial	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4932	protein-coding gene	gene with protein product		142830	"ankylosing spondylitis"	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.727C>T	6.37:g.31323262G>A	ENSP00000399168:p.Arg243Trp		Q29764	Missense_Mutation	SNP	ENST00000412585.2	37	CCDS34394.1	133	0.060897435897435896	29	0.05894308943089431	17	0.04696132596685083	44	0.07692307692307693	43	0.05672823218997362	N	11.80	1.747791	0.30955	.	.	ENSG00000234745	ENST00000412585;ENST00000428231;ENST00000452596	T	0.03181	4.02	3.16	-0.095	0.13643	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.232653	0.21556	U	0.072641	T	0.01661	0.0053	M	0.80183	2.485	0.22989	N	0.998462	B	0.23540	0.087	B	0.14023	0.01	T	0.36504	-0.9745	10	0.72032	D	0.01	.	2.5362	0.04715	0.2793:0.0:0.3821:0.3386	.	243	P01889	1B07_HUMAN	W	243;122;122	ENSP00000399168:R243W	ENSP00000399168:R243W	R	-	1	2	HLA-B	31431241	0.022000	0.18835	0.712000	0.30502	0.703000	0.40648	0.052000	0.14163	0.183000	0.20059	0.442000	0.29010	CGG		0.597	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514		A	31323262	G	A	31323262	3	1	731	1	0	0	0	0	1	0	0	0	7198	1086	38	1	377	1	HLA-B	6	31323262	Missense_Mutation	SNP	G	TCGA-KN-8425-01A-11D-2310-10	1410929	31323262	139791805	19	41146											
GLP1R	2740	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	6	39040661	39040661	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr6:39040661A>G	ENST00000373256.4	+	6	576	c.533A>G	c.(532-534)tAc>tGc	p.Y178C		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	178					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)	ACCAGGAACTACATCCACCTG	0.557																																																0													210	167	181					6																	39040661		2203	4300	6503	SO:0001583	missense	2740				CCDS4839.1	6p21	2012-08-10			ENSG00000112164	ENSG00000112164		"GPCR / Class B : Glucagon receptors"	4324	protein-coding gene	gene with protein product		138032					Standard	NM_002062		Approved		uc003ooj.4	P43220	OTTHUMG00000014638	ENST00000373256.4:c.533A>G	6.37:g.39040661A>G	ENSP00000362353:p.Tyr178Cys		Q2M229|Q99669	Missense_Mutation	SNP	ENST00000373256.4	37	CCDS4839.1	.	.	.	.	.	.	.	.	.	.	A	19.32	3.804534	0.70682	.	.	ENSG00000112164	ENST00000373256	T	0.39406	1.08	5.56	3.08	0.35506	GPCR, family 2-like (1);	0.000000	0.56097	D	0.000024	T	0.58481	0.2125	M	0.91717	3.235	0.52099	D	0.999945	D	0.89917	1.0	D	0.91635	0.999	T	0.64360	-0.6426	10	0.72032	D	0.01	.	8.7911	0.34852	0.7396:0.1333:0.0:0.127	.	178	P43220	GLP1R_HUMAN	C	178	ENSP00000362353:Y178C	ENSP00000362353:Y178C	Y	+	2	0	GLP1R	39148639	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.310000	0.96267	0.363000	0.24346	-0.333000	0.08304	TAC		0.557	GLP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040443.1			G	39040661	A	G	39040661	3	3	731	1	0	0	0	0	1	0	0	0	6454	391	14	3	555	3	GLP1R	6	39040661	Missense_Mutation	SNP	A	TCGA-KN-8425-01A-11D-2310-10	7717399	39040661	132074406	20	41147											
PHF3	23469	ucsc.edu;bcgsc.ca	37	6	64419126	64419126	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr6:64419126C>T	ENST00000262043.3	+	14	4131	c.3791C>T	c.(3790-3792)tCa>tTa	p.S1264L	PHF3_ENST00000393387.1_Missense_Mutation_p.S1264L			Q92576	PHF3_HUMAN	PHD finger protein 3	1264					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)			ATAAAAGCATCAGGAACCAAG	0.358																																					GBM(135;136 1820 29512 34071 46235)											0													155	165	162					6																	64419126		2203	4300	6503	SO:0001583	missense	23469			AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"Zinc fingers, PHD-type"	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.3791C>T	6.37:g.64419126C>T	ENSP00000262043:p.Ser1264Leu		A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	CCDS4966.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.528384|5.528384	0.96446|0.96446	.|.	.|.	ENSG00000118482|ENSG00000118482	ENST00000505138|ENST00000515594;ENST00000262043;ENST00000393387	.|T;T;T	.|0.56103	.|0.48;1.79;1.79	6.02|6.02	6.02|6.02	0.97574|0.97574	.|Spen paralogue and orthologue SPOC, C-terminal (1);	.|0.000000	.|0.32608	.|N	.|0.005877	.|T	.|0.70011	.|0.3175	M|M	0.74467|0.74467	2.265|2.265	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	.|T	.|0.66822	.|-0.5826	.|9	.|.	.|.	.|.	-14.8658|-14.8658	20.547|20.547	0.99278|0.99278	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1264	.|Q92576	.|PHF3_HUMAN	X|L	53|533;1264;1264	.|ENSP00000425338:S533L;ENSP00000262043:S1264L;ENSP00000377048:S1264L	.|.	Q|S	+|+	1|2	0|0	PHF3|PHF3	64477085|64477085	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.493000|7.493000	0.81493|0.81493	2.850000|2.850000	0.98022|0.98022	0.650000|0.650000	0.86243|0.86243	CAG|TCA		0.358	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			T	64419126	C	T	64419126	3	4	731	1	0	0	0	0	1	0	0	0	11838	838	29	2	3841	2	PHF3	6	64419126	Missense_Mutation	SNP	C	TCGA-KN-8425-01A-11D-2310-10	25378465	64419126	106695941	21	41148											
GJA10	84694	hgsc.bcm.edu;bcgsc.ca	37	6	90605153	90605153	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr6:90605153G>T	ENST00000369352.1	+	1	966	c.966G>T	c.(964-966)tgG>tgT	p.W322C	Y_RNA_ENST00000517082.1_RNA	NM_032602.1	NP_115991.1	P57773	CXA9_HUMAN	gap junction protein, alpha 10, 62kDa	4					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)		AAAAGGACTGGTCTGAGAAGG	0.507																																																0													76	72	74					6																	90605153		2203	4300	6503	SO:0001583	missense	84694			AF296766	CCDS5025.1	6q15-q16	2008-02-05			ENSG00000135355	ENSG00000135355		"Ion channels / Gap junction proteins (connexins)"	16995	protein-coding gene	gene with protein product	"connexin 62"	611924					Standard	NM_032602		Approved	CX62	uc011eaa.2	Q969M2	OTTHUMG00000015210	ENST00000369352.1:c.966G>T	6.37:g.90605153G>T	ENSP00000358358:p.Trp322Cys		B2R722|B3KVQ2|Q5TA63|Q96KG0	Missense_Mutation	SNP	ENST00000369352.1	37	CCDS5025.1	.	.	.	.	.	.	.	.	.	.	G	3.006	-0.205059	0.06180	.	.	ENSG00000135355	ENST00000369352	D	0.98901	-5.22	5.6	1.7	0.24286	.	0.962270	0.08562	N	0.927439	D	0.93706	0.7989	M	0.63843	1.955	0.19775	N	0.999951	B	0.15719	0.014	B	0.12156	0.007	D	0.87229	0.2259	10	0.37606	T	0.19	.	2.2376	0.04012	0.1489:0.1316:0.4486:0.2708	.	322	Q969M2	CXA10_HUMAN	C	322	ENSP00000358358:W322C	ENSP00000358358:W322C	W	+	3	0	GJA10	90661874	0.002000	0.14202	0.015000	0.15790	0.237000	0.25408	0.550000	0.23345	0.276000	0.22118	0.563000	0.77884	TGG		0.507	GJA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041505.1	NM_032602		T	90605153	G	T	90605153	3	4	731	1	0	0	0	0	1	0	0	0	6403	1270	44	4	968	4	GJA10	6	90605153	Missense_Mutation	SNP	G	TCGA-KN-8425-01A-11D-2310-10	26186027	90605153	80509914	22	41149											
CDC40	51362	broad.mit.edu	37	6	110528751	110528751	+	Missense_Mutation	SNP	C	C	A			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr6:110528751C>A	ENST00000368932.1	+	5	550	c.449C>A	c.(448-450)gCt>gAt	p.A150D	CDC40_ENST00000368930.1_Missense_Mutation_p.A150D|CDC40_ENST00000307731.1_Missense_Mutation_p.A150D			O60508	PRP17_HUMAN	cell division cycle 40	150					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)	p.A150D(1)		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)		CAAGTGTCTGCTAAATATATT	0.269																																																1	Substitution - Missense(1)	kidney(1)											94	106	102					6																	110528751		2201	4290	6491	SO:0001583	missense	51362			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.449C>A	6.37:g.110528751C>A	ENSP00000357928:p.Ala150Asp		B2RBC5|O75471|Q5SRN0|Q9UPG1	Missense_Mutation	SNP	ENST00000368932.1	37	CCDS5081.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.60|12.60	1.987752|1.987752	0.35036|0.35036	.|.	.|.	ENSG00000168438|ENSG00000168438	ENST00000368932;ENST00000368933;ENST00000368930;ENST00000307731;ENST00000439165;ENST00000453107|ENST00000431461	T;T;T;T|.	0.60920|.	0.28;0.15;0.15;0.28|.	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	0.360512|.	0.35349|.	N|.	0.003280|.	T|.	0.30230|.	0.0758|.	N|N	0.03608|0.03608	-0.345|-0.345	0.45046|0.45046	D|D	0.998061|0.998061	B|.	0.02656|.	0.0|.	B|.	0.04013|.	0.001|.	T|.	0.35475|.	-0.9787|.	10|.	0.10636|.	T|.	0.68|.	-15.4556|-15.4556	20.1739|20.1739	0.98173|0.98173	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	150|.	O60508|.	PRP17_HUMAN|.	D|X	150;150;150;150;150;47|42	ENSP00000357928:A150D;ENSP00000357929:A150D;ENSP00000357926:A150D;ENSP00000304370:A150D|.	ENSP00000304370:A150D|.	A|C	+|+	2|3	0|2	CDC40|CDC40	110635444|110635444	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	5.478000|5.478000	0.66806|0.66806	2.774000|2.774000	0.95407|0.95407	0.585000|0.585000	0.79938|0.79938	GCT|TGC		0.269	CDC40-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041791.1	NM_015891		A	110528751	C	A	110528751	3	1	731	1	0	0	0	0	1	0	0	0	3072	797	28	4	463	4	CDC40	6	110528751	Missense_Mutation	SNP	C	TCGA-KN-8425-01A-11D-2310-10	19923598	110528751	60586316	23	41150											
FAM184A	79632	broad.mit.edu	37	6	119281278	119281278	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr6:119281278A>G	ENST00000338891.7	-	18	3856	c.3413T>C	c.(3412-3414)tTc>tCc	p.F1138S	FAM184A_ENST00000368475.4_Missense_Mutation_p.F934S|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000521531.1_Missense_Mutation_p.F1054S|FAM184A_ENST00000352896.5_Missense_Mutation_p.F969S	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	1138						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TCAGAATGTGAAGTACCGGGC	0.428																																																0													61	64	63					6																	119281278		1879	4089	5968	SO:0001583	missense	79632			BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 60"	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.3413T>C	6.37:g.119281278A>G	ENSP00000342604:p.Phe1138Ser		B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	ENST00000338891.7	37	CCDS43499.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.3|22.3	4.275019|4.275019	0.80580|0.80580	.|.	.|.	ENSG00000111879|ENSG00000111879	ENST00000521043;ENST00000338891;ENST00000352896;ENST00000368475;ENST00000368472;ENST00000521531|ENST00000481884	T;T;T;T;T|.	0.70164|.	0.23;0.32;-0.08;-0.46;-0.34|.	5.39|5.39	4.24|4.24	0.50183|0.50183	.|.	0.062472|.	0.64402|.	N|.	0.000003|.	T|T	0.60143|0.60143	0.2246|0.2246	M|M	0.70275|0.70275	2.135|2.135	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.999;0.999;0.999|.	D;D;D|.	0.83275|.	0.994;0.994;0.996|.	T|T	0.61715|0.61715	-0.7006|-0.7006	10|5	0.87932|.	D|.	0|.	-8.2841|-8.2841	11.3459|11.3459	0.49561|0.49561	0.9286:0.0:0.0714:0.0|0.9286:0.0:0.0714:0.0	.|.	1054;969;1138|.	Q8NB25-2;F8W8D6;Q8NB25|.	.;.;F184A_HUMAN|.	S|P	266;1138;969;934;163;1054|72	ENSP00000342604:F1138S;ENSP00000326608:F969S;ENSP00000357460:F934S;ENSP00000357457:F163S;ENSP00000430442:F1054S|.	ENSP00000342604:F1138S|.	F|S	-|-	2|1	0|0	FAM184A|FAM184A	119322977|119322977	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.941000|0.941000	0.58515|0.58515	9.029000|9.029000	0.93718|0.93718	0.989000|0.989000	0.38761|0.38761	0.455000|0.455000	0.32223|0.32223	TTC|TCA		0.428	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581		G	119281278	A	G	119281278	3	3	731	1	0	0	0	0	1	0	0	0	5513	246	9	3	13	3	FAM184A	6	119281278	Missense_Mutation	SNP	A	TCGA-KN-8425-01A-11D-2310-10	8752527	119281278	51833789	24	41151											
TCP10L2	401285	mdanderson.org	37	6	167592606	167592606	+	Silent	SNP	T	T	A	rs201866116	byFrequency	TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr6:167592606T>A	ENST00000366832.2	+	6	896	c.765T>A	c.(763-765)gtT>gtA	p.V255V		NM_001145121.1	NP_001138593.1	B9ZVM9	TCP2L_HUMAN	t-complex 10-like 2	255										endometrium(1)|kidney(2)|lung(3)	6						CAGCCGGAGTTGCTGGTGAGC	0.577																																																0																																										SO:0001819	synonymous_variant	401285				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.765T>A	6.37:g.167592606T>A				Silent	SNP	ENST00000366832.2	37	CCDS47514.1																																																																																				0.577	TCP10L2-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043112.5	XR_040749		A	167592606	T	A	167592606	2	1	731	1	0	0	0	0	0	0	0	1	15717	1799	63	5		5	TCP10L2	6	167592606	Silent	SNP	T	TCGA-KN-8425-01A-11D-2310-10	48311328	167592606	3522461	25	41152											
URGCP	55665	broad.mit.edu	37	7	43917145	43917146	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr7:43917145_43917146insC	ENST00000453200.1	-	6	2409_2410	c.1916_1917insG	c.(1915-1917)ggcfs	p.G639fs	URGCP_ENST00000443736.1_Frame_Shift_Ins_p.G596fs|URGCP_ENST00000336086.6_Frame_Shift_Ins_p.G596fs|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000447717.3_Frame_Shift_Ins_p.G596fs|URGCP_ENST00000223341.7_Frame_Shift_Ins_p.G596fs|URGCP_ENST00000402306.3_Frame_Shift_Ins_p.G630fs|URGCP-MRPS24_ENST00000603700.1_Intron			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	639					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						AACGCCTCTGGCCTGCCGGCAG	0.629																																																0																																										SO:0001589	frameshift_variant	55665				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.1917dupG	7.37:g.43917147_43917147dupC	ENSP00000396918:p.Gly639fs		E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Frame_Shift_Ins	INS	ENST00000453200.1	37	CCDS47578.1																																																																																				0.629	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338995.1	NM_001077664		C	43917146	-	C	43917145	7	5	731	1	0	1	1	0	0	0	0	0	17031	1190	42	0	882	0	URGCP	7	43917145	Frame_Shift_Ins	INS	-	TCGA-KN-8425-01A-11D-2310-10		43917145	115221518	26	41153											
TRRAP	8295	broad.mit.edu	37	7	98522828	98522828	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr7:98522828G>T	ENST00000359863.4	+	22	3126	c.2917G>T	c.(2917-2919)Gcc>Tcc	p.A973S	TRRAP_ENST00000355540.3_Missense_Mutation_p.A973S|TRRAP_ENST00000446306.3_Missense_Mutation_p.A972S	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	973					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)	p.A973S(2)		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)			CTTCCTGGTGGCCATGATGAG	0.562																																																2	Substitution - Missense(2)	endometrium(2)											173	138	149					7																	98522828		2203	4300	6503	SO:0001583	missense	8295			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.2917G>T	7.37:g.98522828G>T	ENSP00000352925:p.Ala973Ser		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.1|22.1	4.250101|4.250101	0.80024|0.80024	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.02812|.	4.15;4.15|.	6.17|6.17	6.17|6.17	0.99709|0.99709	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.53578|0.53578	0.1805|0.1805	N|N	0.16066|0.16066	0.365|0.365	0.80722|0.80722	D|D	1|1	P;B;P|.	0.46784|.	0.884;0.297;0.461|.	B;B;B|.	0.43155|.	0.41;0.077;0.134|.	T|T	0.44143|0.44143	-0.9347|-0.9347	10|5	0.10377|.	T|.	0.69|.	.|.	20.8794|20.8794	0.99867|0.99867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	973;687;973|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	S|C	973;973;971|687	ENSP00000352925:A973S;ENSP00000347733:A973S|.	ENSP00000347733:A973S|.	A|W	+|+	1|3	0|0	TRRAP|TRRAP	98360764|98360764	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	9.728000|9.728000	0.98792|0.98792	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GCC|TGG		0.562	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		T	98522828	G	T	98522828	3	4	731	1	0	0	0	0	1	0	0	0	16606	1203	42	4	2999	4	TRRAP	7	98522828	Missense_Mutation	SNP	G	TCGA-KN-8425-01A-11D-2310-10	54605683	98522828	60615835	27	41154											
CLCN1	1180	broad.mit.edu	37	7	143047474	143047475	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr7:143047474_143047475insG	ENST00000343257.2	+	21	2500_2501	c.2413_2414insG	c.(2413-2415)tggfs	p.W805fs		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	805					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|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)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GATTGAGGCCTGGGAGCAGGAG	0.554																																																0																																										SO:0001589	frameshift_variant	1180			Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"Ion channels / Chloride channels : Voltage-sensitive"	2019	protein-coding gene	gene with protein product	"Thomsen disease, autosomal dominant"	118425	"chloride channel 1, skeletal muscle"			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.2416dupG	7.37:g.143047477_143047477dupG	ENSP00000339867:p.Trp805fs		A4D2H5|Q2M202	Frame_Shift_Ins	INS	ENST00000343257.2	37	CCDS5881.1																																																																																				0.554	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327420.1	NM_000083		G	143047475	-	G	143047474	7	5	731	1	0	1	1	0	0	0	0	0	3464	1580	55	0	2495	0	CLCN1	7	143047474	Frame_Shift_Ins	INS	-	TCGA-KN-8425-01A-11D-2310-10	44524646	143047474	16091189	28	41155											
AMAC1L2	83650	mdanderson.org	37	8	11189125	11189125	+	Silent	SNP	C	C	A			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr8:11189125C>A	ENST00000382435.4	+	1	729	c.510C>A	c.(508-510)atC>atA	p.I170I		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	170	EamA 1.					integral component of membrane (GO:0016021)											TAGGACTAATCATCATTCTGG	0.597																																																0													180	173	176					8																	11189125		2203	4300	6503	SO:0001819	synonymous_variant	83650			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.510C>A	8.37:g.11189125C>A			A2RRL6	Silent	SNP	ENST00000382435.4	37	CCDS5980.1																																																																																				0.597	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207313.2	NM_054028		A	11189125	C	A	11189125	2	1	731	1	0	0	0	0	0	0	0	1	560	816	29	4		4	AMAC1L2	8	11189125	Silent	SNP	C	TCGA-KN-8425-01A-11D-2310-10		11189125	135174897	29	41156	378	2									
AMAC1L2	83650	mdanderson.org	37	8	11189132	11189132	+	Missense_Mutation	SNP	C	C	G	rs149105667		TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr8:11189132C>G	ENST00000382435.4	+	1	736	c.517C>G	c.(517-519)Ctg>Gtg	p.L173V		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	173	EamA 1.					integral component of membrane (GO:0016021)											AATCATCATTCTGGGACCTGG	0.607																																																0													177	171	173					8																	11189132		2203	4300	6503	SO:0001583	missense	83650			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.517C>G	8.37:g.11189132C>G	ENSP00000371872:p.Leu173Val		A2RRL6	Missense_Mutation	SNP	ENST00000382435.4	37	CCDS5980.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.426350	0.00186	.	.	ENSG00000177710	ENST00000382435	T	0.53857	0.6	0.34	0.34	0.15985	.	0.000000	0.42964	N	0.000622	T	0.14700	0.0355	N	0.01576	-0.805	0.09310	N	0.999996	B	0.02656	0.0	B	0.04013	0.001	T	0.21793	-1.0235	9	0.02654	T	1	-1.8868	.	.	.	.	173	Q96KT7	S35G5_HUMAN	V	173	ENSP00000371872:L173V	ENSP00000371872:L173V	L	+	1	2	SLC35G5	11226542	0.961000	0.32948	0.861000	0.33841	0.133000	0.20885	-0.006000	0.12833	-1.354000	0.02188	-1.964000	0.00472	CTG		0.607	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207313.2	NM_054028		G	11189132	C	G	11189132	3	3	731	1	0	0	0	0	1	0	0	0	560	912	32	4	519	4	AMAC1L2	8	11189132	Missense_Mutation	SNP	C	TCGA-KN-8425-01A-11D-2310-10	7	11189132	135174890	30	41157	378	2									
PCMTD1	115294	mdanderson.org	37	8	52732959	52732959	+	Silent	SNP	G	G	A			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr8:52732959G>A	ENST00000360540.5	-	7	1432	c.1026C>T	c.(1024-1026)ccC>ccT	p.P342P	PCMTD1_ENST00000522514.1_Silent_p.P342P|PCMTD1_ENST00000544451.1_Silent_p.P266P|PCMTD1_ENST00000519559.1_5'UTR	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	342						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)				ATTCAGGGAGGGGCAGCTTCA	0.353																																																0													69	67	68					8																	52732959		2203	4300	6503	SO:0001819	synonymous_variant	115294				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.1026C>T	8.37:g.52732959G>A			Q96FK9	Silent	SNP	ENST00000360540.5	37	CCDS6148.1																																																																																				0.353	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2	NM_052937		A	52732959	G	A	52732959	2	1	731	1	0	0	0	0	0	0	0	1	11588	1219	43	2		2	PCMTD1	8	52732959	Silent	SNP	G	TCGA-KN-8425-01A-11D-2310-10	41543827	52732959	93631063	31	41158	379	2	1	93		3	2	23	N	G_C	4.76137e-05
PCMTD1	115294	mdanderson.org	37	8	52732961	52732961	+	Missense_Mutation	SNP	G	G	T	rs150537425		TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr8:52732961G>T	ENST00000360540.5	-	7	1430	c.1024C>A	c.(1024-1026)Ccc>Acc	p.P342T	PCMTD1_ENST00000522514.1_Missense_Mutation_p.P342T|PCMTD1_ENST00000544451.1_Missense_Mutation_p.P266T|PCMTD1_ENST00000519559.1_5'UTR	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	342						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)				TCAGGGAGGGGCAGCTTCATG	0.358																																																0													71	69	70					8																	52732961		2203	4300	6503	SO:0001583	missense	115294				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.1024C>A	8.37:g.52732961G>T	ENSP00000353739:p.Pro342Thr		Q96FK9	Missense_Mutation	SNP	ENST00000360540.5	37	CCDS6148.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.365461	0.82463	.	.	ENSG00000168300	ENST00000360540;ENST00000544451;ENST00000522514	T;T;T	0.71461	0.25;-0.57;0.25	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.84835	0.5560	M	0.71036	2.16	0.80722	D	1	D;D;D	0.89917	0.995;1.0;0.999	P;D;D	0.91635	0.82;0.999;0.972	D	0.84761	0.0762	10	0.87932	D	0	-0.0352	20.6593	0.99626	0.0:0.0:1.0:0.0	.	212;266;342	B4E2B4;F5H1M8;Q96MG8	.;.;PCMD1_HUMAN	T	342;266;342	ENSP00000353739:P342T;ENSP00000444026:P266T;ENSP00000428099:P342T	ENSP00000353739:P342T	P	-	1	0	PCMTD1	52895514	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.903000	0.92573	2.885000	0.99019	0.655000	0.94253	CCC		0.358	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2	NM_052937		T	52732961	G	T	52732961	3	4	731	1	0	0	0	0	1	0	0	0	11588	1203	42	4	53	4	PCMTD1	8	52732961	Missense_Mutation	SNP	G	TCGA-KN-8425-01A-11D-2310-10	2	52732961	93631061	32	41159	379	2	1	93		3	2	23	N	G_C	4.76137e-05
PCMTD1	115294	mdanderson.org	37	8	52732981	52732981	+	Missense_Mutation	SNP	C	C	G	rs201786115		TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr8:52732981C>G	ENST00000360540.5	-	7	1410	c.1004G>C	c.(1003-1005)aGa>aCa	p.R335T	PCMTD1_ENST00000522514.1_Missense_Mutation_p.R335T|PCMTD1_ENST00000544451.1_Missense_Mutation_p.R259T|PCMTD1_ENST00000519559.1_5'UTR	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	335						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)				GATTTTTTCTCTCAGTAAATT	0.363																																																0													81	76	78					8																	52732981		2203	4300	6503	SO:0001583	missense	115294				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.1004G>C	8.37:g.52732981C>G	ENSP00000353739:p.Arg335Thr		Q96FK9	Missense_Mutation	SNP	ENST00000360540.5	37	CCDS6148.1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.021524	0.54576	.	.	ENSG00000168300	ENST00000360540;ENST00000544451;ENST00000522514	T;T;T	0.58060	1.08;0.36;1.08	5.97	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.66694	0.2815	M	0.71036	2.16	0.58432	D	0.999997	P;D;P	0.56746	0.473;0.977;0.853	B;P;P	0.55923	0.056;0.787;0.504	T	0.71839	-0.4471	10	0.87932	D	0	-19.9202	15.3016	0.73955	0.0:0.9329:0.0:0.0671	.	205;259;335	B4E2B4;F5H1M8;Q96MG8	.;.;PCMD1_HUMAN	T	335;259;335	ENSP00000353739:R335T;ENSP00000444026:R259T;ENSP00000428099:R335T	ENSP00000353739:R335T	R	-	2	0	PCMTD1	52895534	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.046000	0.76592	1.532000	0.49169	0.655000	0.94253	AGA		0.363	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2	NM_052937		G	52732981	C	G	52732981	3	3	731	1	0	0	0	0	1	0	0	0	11588	913	32	4	73	4	PCMTD1	8	52732981	Missense_Mutation	SNP	C	TCGA-KN-8425-01A-11D-2310-10	20	52732981	93631041	33	41160			1	93		3	2	23	N	G_C	4.76137e-05
ARFGEF1	10565	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	8	68152453	68152453	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr8:68152453G>A	ENST00000262215.3	-	20	3312	c.2923C>T	c.(2923-2925)Ctt>Ttt	p.L975F	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.L429F|ARFGEF1_ENST00000518230.1_5'Flank	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	975					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)			TCCAGGCAAAGAGAGGCTACT	0.368																																																0													119	109	112					8																	68152453		2203	4300	6503	SO:0001583	missense	10565			AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.2923C>T	8.37:g.68152453G>A	ENSP00000262215:p.Leu975Phe		Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	G	34	5.302469	0.95601	.	.	ENSG00000066777	ENST00000520381;ENST00000262215	T;T	0.52754	0.65;0.65	5.84	5.84	0.93424	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.76659	0.4018	M	0.89968	3.075	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.964	T	0.80520	-0.1346	10	0.87932	D	0	.	20.1466	0.98079	0.0:0.0:1.0:0.0	.	975;429	Q9Y6D6;E5RIF2	BIG1_HUMAN;.	F	429;975	ENSP00000428429:L429F;ENSP00000262215:L975F	ENSP00000262215:L975F	L	-	1	0	ARFGEF1	68315007	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.734000	0.74801	2.779000	0.95612	0.591000	0.81541	CTT		0.368	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		A	68152453	G	A	68152453	3	1	731	1	0	0	0	0	1	0	0	0	852	942	33	2	2706	2	ARFGEF1	8	68152453	Missense_Mutation	SNP	G	TCGA-KN-8425-01A-11D-2310-10	15419472	68152453	78211569	34	41161											
PABPC1	26986	mdanderson.org	37	8	101721899	101721899	+	Nonsense_Mutation	SNP	C	C	A	rs142985461	byFrequency	TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr8:101721899C>A	ENST00000318607.5	-	8	2161	c.1033G>T	c.(1033-1035)Gaa>Taa	p.E345*	AP001205.1_ENST00000579868.1_RNA|PABPC1_ENST00000519004.1_Nonsense_Mutation_p.E300*|PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000522387.1_Nonsense_Mutation_p.E313*	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	345	RRM 4. {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)			TTAGTGGCTTCTTCTGGGGAG	0.423																																																0													74	69	71					8																	101721899		2203	4298	6501	SO:0001587	stop_gained	26986			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.1033G>T	8.37:g.101721899C>A	ENSP00000313007:p.Glu345*		Q15097|Q93004	Nonsense_Mutation	SNP	ENST00000318607.5	37	CCDS6289.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	41|41|41	8.575894|8.575894|8.575894	0.98870|0.98870|0.98870	.|.|.	.|.|.	ENSG00000070756|ENSG00000070756|ENSG00000070756	ENST00000318607;ENST00000347137;ENST00000519004;ENST00000522387|ENST00000519100|ENST00000519596	.|.|.	.|.|.	.|.|.	4.92|4.92|4.92	4.92|4.92|4.92	0.64577|0.64577|0.64577	.|.|.	0.000000|.|.	0.64402|.|.	D|.|.	0.000008|.|.	.|T|T	.|0.74412|0.74412	.|0.3713|0.3713	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	A|A|A	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|T|T	.|0.73987|0.73987	.|-0.3809|-0.3809	.|3|3	0.87932|.|.	D|.|.	0|.|.	.|.|.	18.4911|18.4911|18.4911	0.90848|0.90848|0.90848	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|.|.	.|.|.	.|.|.	X|N|I	345;345;300;313|213|177	.|.|.	ENSP00000313007:E345X|.|.	E|K|R	-|-|-	1|3|2	0|2|0	PABPC1|PABPC1|PABPC1	101791075|101791075|101791075	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.998000|0.998000|0.998000	0.95712|0.95712|0.95712	7.748000|7.748000|7.748000	0.85085|0.85085|0.85085	2.426000|2.426000|2.426000	0.82243|0.82243|0.82243	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAA|AAG|AGA		0.423	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568		A	101721899	C	A	101721899	4	1	731	1	0	0	0	0	0	1	0	0	11365	922	32	4	905	4	PABPC1	8	101721899	Nonsense_Mutation	SNP	C	TCGA-KN-8425-01A-11D-2310-10	33569446	101721899	44642123	35	41162											
BAI1	575	broad.mit.edu	37	8	143562971	143562971	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr8:143562971A>G	ENST00000517894.1	+	11	2923	c.2029A>G	c.(2029-2031)Acc>Gcc	p.T677A	BAI1_ENST00000323289.5_Missense_Mutation_p.T677A			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	677					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)					TCAGGACGGGACCAGCTACAG	0.627																																																0													41	48	46					8																	143562971		2060	4186	6246	SO:0001583	missense	575			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.2029A>G	8.37:g.143562971A>G	ENSP00000430945:p.Thr677Ala			Missense_Mutation	SNP	ENST00000517894.1	37		.	.	.	.	.	.	.	.	.	.	A	11.04	1.521645	0.27211	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.09817	2.94;2.94	4.7	-0.423	0.12325	.	0.147583	0.44097	U	0.000497	T	0.06142	0.0159	N	0.21097	0.63	0.37769	D	0.926627	B	0.16802	0.019	B	0.24269	0.052	T	0.27806	-1.0063	10	0.44086	T	0.13	.	4.5373	0.12040	0.4542:0.0:0.3914:0.1544	.	677	E9PBK0	.	A	677	ENSP00000430945:T677A;ENSP00000313046:T677A	ENSP00000313046:T677A	T	+	1	0	BAI1	143559973	1.000000	0.71417	0.964000	0.40570	0.542000	0.35054	2.485000	0.45250	-0.064000	0.13043	0.260000	0.18958	ACC		0.627	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		G	143562971	A	G	143562971	3	3	731	1	0	0	0	0	1	0	0	0	1298	275	10	3	2067	3	BAI1	8	143562971	Missense_Mutation	SNP	A	TCGA-KN-8425-01A-11D-2310-10	41841072	143562971	2801051	36	41163											
GTF3C5	9328	broad.mit.edu	37	9	135929828	135929828	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr9:135929828A>G	ENST00000372097.5	+	7	1345	c.1022A>G	c.(1021-1023)aAg>aGg	p.K341R	GTF3C5_ENST00000372095.5_Missense_Mutation_p.K216R|GTF3C5_ENST00000372108.5_Missense_Mutation_p.K341R|GTF3C5_ENST00000342018.8_Missense_Mutation_p.K272R|GTF3C5_ENST00000372099.6_Missense_Mutation_p.K332R	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	341					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		GTCAAAGCAAAGCGCAGCACC	0.602																																																0													105	89	95					9																	135929828		2203	4300	6503	SO:0001583	missense	9328			AF133124	CCDS6958.1, CCDS48050.1, CCDS75927.1	9q34.13	2010-03-23	2002-08-29		ENSG00000148308	ENSG00000148308		"General transcription factors"	4668	protein-coding gene	gene with protein product	"transcription factor IIIC, 63 kD"	604890	"general transcription factor IIIC, polypeptide 5 (63kD)"			10373544	Standard	NM_012087		Approved	TFiiiC2-63, TFIIIC63, TFIIICepsilon	uc004ccj.4	Q9Y5Q8	OTTHUMG00000020856	ENST00000372097.5:c.1022A>G	9.37:g.135929828A>G	ENSP00000361169:p.Lys341Arg		A6NI44|A6NJB9|Q5T7U2|Q5T7U3|Q8N2U7|Q8N857|Q96GD9|Q9H4P2	Missense_Mutation	SNP	ENST00000372097.5	37	CCDS6958.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	34|34	5.402263|5.402263	0.96030|0.96030	.|.	.|.	ENSG00000148308|ENSG00000148308	ENST00000372097;ENST00000372099;ENST00000372095;ENST00000372089;ENST00000372108;ENST00000342018;ENST00000439697|ENST00000434175;ENST00000435745	T;T;T;T;T;T|.	0.49432|.	0.78;0.78;0.78;0.78;0.78;0.78|.	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76877|0.76877	0.4049|0.4049	M|M	0.81942|0.81942	2.565|2.565	0.58432|0.58432	D|D	0.99999|0.99999	D;D;D|.	0.89917|.	1.0;0.998;1.0|.	D;D;D|.	0.87578|.	0.998;0.955;0.998|.	T|T	0.78605|0.78605	-0.2139|-0.2139	10|5	0.13108|.	T|.	0.6|.	-10.4115|-10.4115	15.072|15.072	0.72046|0.72046	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	216;341;341|.	B7Z1V3;Q9Y5Q8-3;Q9Y5Q8|.	.;.;TF3C5_HUMAN|.	R|G	341;332;216;191;341;272;216|113;20	ENSP00000361169:K341R;ENSP00000361171:K332R;ENSP00000361167:K216R;ENSP00000361180:K341R;ENSP00000339530:K272R;ENSP00000393207:K216R|.	ENSP00000339530:K272R|.	K|S	+|+	2|1	0|0	GTF3C5|GTF3C5	134919649|134919649	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.981000|0.981000	0.71138|0.71138	8.913000|8.913000	0.92730|0.92730	2.146000|2.146000	0.66826|0.66826	0.533000|0.533000	0.62120|0.62120	AAG|AGC		0.602	GTF3C5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054826.1	NM_001122823		G	135929828	A	G	135929828	3	3	731	1	0	0	0	0	1	0	0	0	6878	72	3	3	1048	3	GTF3C5	9	135929828	Missense_Mutation	SNP	A	TCGA-KN-8425-01A-11D-2310-10		135929828	5283603	37	41164											
NOTCH1	4851	broad.mit.edu	37	9	139417353	139417354	+	Frame_Shift_Ins	INS	-	-	GA			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr9:139417353_139417354insGA	ENST00000277541.6	-	4	765_766	c.690_691insTC	c.(688-693)gggggcfs	p.G231fs	NOTCH1_ENST00000491649.1_5'UTR	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	231	EGF-like 6. {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)		CGGCAGGTGCCCCCGTTCTGGC	0.748			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																													Dom	yes		9	9q34.3	4851	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"		L	0										3,3549		1,1,1774						4.8	1			8	11,7377		2,7,3685	no	frameshift	NOTCH1	NM_017617.3		3,8,5459	A1A1,A1R,RR		0.1489,0.0845,0.128				14,10926				SO:0001589	frameshift_variant	4851			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"Ankyrin repeat domain containing"	7881	protein-coding gene	gene with protein product		190198	"Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)"	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.690_691insTC	9.37:g.139417353_139417354insGA	ENSP00000277541:p.Gly231fs		Q59ED8|Q5SXM3	Frame_Shift_Ins	INS	ENST00000277541.6	37	CCDS43905.1																																																																																				0.748	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		GA	139417354	-	GA	139417353	7	5	731	1	0	1	1	0	0	0	0	0	10549	623	22	0	7100	0	NOTCH1	9	139417353	Frame_Shift_Ins	INS	-	TCGA-KN-8425-01A-11D-2310-10	3487525	139417353	1796078	38	41165	380	2									
NOTCH1	4851	broad.mit.edu	37	9	139417355	139417356	+	Frame_Shift_Ins	INS	-	-	T			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr9:139417355_139417356insT	ENST00000277541.6	-	4	763_764	c.688_689insA	c.(688-690)gggfs	p.G230fs	NOTCH1_ENST00000491649.1_5'UTR	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	230	EGF-like 6. {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)		GCAGGTGCCCCCGTTCTGGCAG	0.748			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																													Dom	yes		9	9q34.3	4851	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"		L	0																																										SO:0001589	frameshift_variant	4851			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"Ankyrin repeat domain containing"	7881	protein-coding gene	gene with protein product		190198	"Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)"	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.688_689insA	9.37:g.139417355_139417356insT	ENSP00000277541:p.Gly230fs		Q59ED8|Q5SXM3	Frame_Shift_Ins	INS	ENST00000277541.6	37	CCDS43905.1																																																																																				0.748	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		T	139417356	-	T	139417355	7	5	731	1	0	1	1	0	0	0	0	0	10549	623	22	0	7102	0	NOTCH1	9	139417355	Frame_Shift_Ins	INS	-	TCGA-KN-8425-01A-11D-2310-10	2	139417355	1796076	39	41166	380	2									
OR10A5	144124	mdanderson.org	37	11	6867588	6867588	+	Silent	SNP	T	T	C			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr11:6867588T>C	ENST00000299454.4	+	1	706	c.675T>C	c.(673-675)gcT>gcC	p.A225A	OR10A5_ENST00000379831.2_Silent_p.A229A			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	225					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TTGCTGCTGCTATCCTCAAGA	0.473																																					Pancreas(44;21 1072 25662 28041 45559)											0													286	234	252					11																	6867588		2201	4296	6497	SO:0001819	synonymous_variant	144124			AF324499	CCDS7773.1	11p15.4	2012-08-09			ENSG00000166363	ENSG00000166363		"GPCR / Class A : Olfactory receptors"	15131	protein-coding gene	gene with protein product		608493		OR10A1			Standard	NM_178168		Approved	OR11-403, JCG6	uc001met.1	Q9H207	OTTHUMG00000165738	ENST00000299454.4:c.675T>C	11.37:g.6867588T>C			O95223|Q52M66|Q96R21|Q96R22	Silent	SNP	ENST00000299454.4	37	CCDS7773.1																																																																																				0.473	OR10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385983.1	NM_178168		C	6867588	T	C	6867588	2	2	731	1	0	0	0	0	0	0	0	1	10895	1509	53	3		3	OR10A5	11	6867588	Silent	SNP	T	TCGA-KN-8425-01A-11D-2310-10		6867588	128138928	40	41167											
ABCC8	6833	broad.mit.edu	37	11	17483365	17483365	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr11:17483365A>G	ENST00000389817.3	-	5	655	c.587T>C	c.(586-588)aTc>aCc	p.I196T	ABCC8_ENST00000302539.4_Missense_Mutation_p.I196T			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	196					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)	CTTGAAGAAGATGTATCTCTG	0.572																																																0													58	55	56					11																	17483365		2200	4293	6493	SO:0001583	missense	6833			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.587T>C	11.37:g.17483365A>G	ENSP00000374467:p.Ile196Thr		A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	ENST00000389817.3	37	CCDS31437.1	.	.	.	.	.	.	.	.	.	.	A	16.31	3.087067	0.55861	.	.	ENSG00000006071	ENST00000389817;ENST00000302539;ENST00000379493	D;D	0.91180	-2.8;-2.8	5.49	5.49	0.81192	.	0.230857	0.36034	N	0.002829	D	0.83806	0.5334	N	0.14661	0.345	0.44439	D	0.997363	B;B	0.18968	0.032;0.009	B;B	0.19946	0.017;0.027	T	0.80056	-0.1542	10	0.51188	T	0.08	.	15.8929	0.79315	1.0:0.0:0.0:0.0	.	196;196	B7Z4N0;Q09428	.;ABCC8_HUMAN	T	196;196;210	ENSP00000374467:I196T;ENSP00000303960:I196T	ENSP00000303960:I196T	I	-	2	0	ABCC8	17439941	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.057000	0.93889	2.205000	0.71048	0.528000	0.53228	ATC		0.572	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		G	17483365	A	G	17483365	3	3	731	1	0	0	0	0	1	0	0	0	58	333	12	3	4298	3	ABCC8	11	17483365	Missense_Mutation	SNP	A	TCGA-KN-8425-01A-11D-2310-10	10615777	17483365	117523151	41	41168											
C2CD3	26005	broad.mit.edu	37	11	73820090	73820090	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr11:73820090G>T	ENST00000334126.7	-	12	2177	c.1951C>A	c.(1951-1953)Cca>Aca	p.P651T	C2CD3_ENST00000313663.7_Missense_Mutation_p.P651T			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	651					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)					TTTTTCTGTGGAGTTTTCTTT	0.398																																																0													112	110	111					11																	73820090		2200	4293	6493	SO:0001583	missense	26005			BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.1951C>A	11.37:g.73820090G>T	ENSP00000334379:p.Pro651Thr		C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37		.	.	.	.	.	.	.	.	.	.	G	0.210	-1.037313	0.02013	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681	T;T	0.08546	3.08;3.08	5.46	2.38	0.29361	.	0.291255	0.34223	N	0.004144	T	0.04543	0.0124	L	0.36672	1.1	0.25691	N	0.985688	B	0.28350	0.208	B	0.22152	0.038	T	0.35276	-0.9795	10	0.09084	T	0.74	-1.4511	3.0945	0.06304	0.0926:0.1185:0.4536:0.3353	.	651	Q4AC94-1	.	T	651	ENSP00000334379:P651T;ENSP00000323339:P651T	ENSP00000323339:P651T	P	-	1	0	C2CD3	73497738	0.979000	0.34478	0.885000	0.34714	0.593000	0.36681	1.535000	0.36061	1.310000	0.45006	0.650000	0.86243	CCA		0.398	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		T	73820090	G	T	73820090	3	4	731	1	0	0	0	0	1	0	0	0	2156	1174	41	4	4020	4	C2CD3	11	73820090	Missense_Mutation	SNP	G	TCGA-KN-8425-01A-11D-2310-10	56336725	73820090	61186426	42	41169											
KIAA1377	57562	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	11	101793446	101793446	+	Missense_Mutation	SNP	G	G	A	rs142032267	byFrequency	TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr11:101793446G>A	ENST00000263468.8	+	2	473	c.203G>A	c.(202-204)cGa>cAa	p.R68Q		NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	68								p.R68L(1)		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)		AAAATATGTCGAAATCGAGCA	0.303																																																1	Substitution - Missense(1)	lung(1)						G	GLN/ARG	0,4406		0,0,2203	67	70	69		203	5.8	1	11	dbSNP_134	69	1,8597	1.2+/-3.3	0,1,4298	no	missense	KIAA1377	NM_020802.2	43	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	68/1118	101793446	1,13003	2203	4299	6502	SO:0001583	missense	57562			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.203G>A	11.37:g.101793446G>A	ENSP00000263468:p.Arg68Gln		Q4G0U6	Missense_Mutation	SNP	ENST00000263468.8	37	CCDS31658.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.945729	0.92593	0.0	1.16E-4	ENSG00000110318	ENST00000263468	T	0.12361	2.69	5.84	5.84	0.93424	.	0.000000	0.53938	D	0.000056	T	0.38241	0.1033	M	0.67953	2.075	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.03728	-1.1009	10	0.87932	D	0	-11.1498	17.6233	0.88088	0.0:0.0:1.0:0.0	.	68	Q9P2H0	K1377_HUMAN	Q	68	ENSP00000263468:R68Q	ENSP00000263468:R68Q	R	+	2	0	KIAA1377	101298656	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	5.645000	0.67909	2.758000	0.94735	0.591000	0.81541	CGA		0.303	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394140.1	NM_020802		A	101793446	G	A	101793446	3	1	731	1	0	0	0	0	1	0	0	0	8229	1058	37	1	209	1	KIAA1377	11	101793446	Missense_Mutation	SNP	G	TCGA-KN-8425-01A-11D-2310-10	27973356	101793446	33213070	43	41170											
ITGA5	3678	broad.mit.edu	37	12	54812840	54812840	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr12:54812840G>T	ENST00000293379.4	-	1	404	c.143C>A	c.(142-144)gCc>gAc	p.A48D	RP11-753H16.3_ENST00000552053.1_RNA|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)	48					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						TACTGCTGGGGCCTCCGCGTC	0.706																																																0													13	19	17					12																	54812840		2110	4214	6324	SO:0001583	missense	3678				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.143C>A	12.37:g.54812840G>T	ENSP00000293379:p.Ala48Asp		Q96HA5	Missense_Mutation	SNP	ENST00000293379.4	37	CCDS8880.1	.	.	.	.	.	.	.	.	.	.	G	11.64	1.699146	0.30142	.	.	ENSG00000161638	ENST00000293379	T	0.69685	-0.42	4.54	3.64	0.41730	.	0.339088	0.30959	N	0.008525	T	0.50411	0.1614	L	0.28400	0.85	0.38871	D	0.956695	B	0.32781	0.384	B	0.28305	0.088	T	0.53078	-0.8489	10	0.39692	T	0.17	.	10.6553	0.45671	0.0:0.1943:0.8057:0.0	.	48	P08648	ITA5_HUMAN	D	48	ENSP00000293379:A48D	ENSP00000293379:A48D	A	-	2	0	ITGA5	53099107	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	2.524000	0.45589	1.254000	0.44035	0.462000	0.41574	GCC		0.706	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406174.1			T	54812840	G	T	54812840	3	4	731	1	0	0	0	0	1	0	0	0	7881	1203	42	4	3126	4	ITGA5	12	54812840	Missense_Mutation	SNP	G	TCGA-KN-8425-01A-11D-2310-10		54812840	79039055	44	41171											
FBXO21	23014	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	12	117624289	117624289	+	Nonsense_Mutation	SNP	C	C	A			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr12:117624289C>A	ENST00000330622.5	-	3	462	c.463G>T	c.(463-465)Gaa>Taa	p.E155*	FBXO21_ENST00000549689.1_5'UTR|FBXO21_ENST00000427718.2_Nonsense_Mutation_p.E155*			O94952	FBX21_HUMAN	F-box protein 21	155					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	ubiquitin ligase complex (GO:0000151)	DNA binding (GO:0003677)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		TACCTTCCTTCCATATTTAGG	0.388																																					GBM(168;452 2038 13535 17701 43680)											0													91	88	89					12																	117624289		2203	4300	6503	SO:0001587	stop_gained	23014			AB020682	CCDS9184.1, CCDS44989.1	12q24.23	2004-06-15	2004-06-15					"F-boxes /  "other""	13592	protein-coding gene	gene with protein product		609095	"F-box only protein 21"			10048485, 10531035	Standard	NM_033624		Approved	FBX21, KIAA0875	uc001twk.3	O94952	OTTHUMG00000169495	ENST00000330622.5:c.463G>T	12.37:g.117624289C>A	ENSP00000328187:p.Glu155*		B3KMF0|Q5BJG0|Q9H087	Nonsense_Mutation	SNP	ENST00000330622.5	37	CCDS9184.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.0|24.0	4.478785|4.478785	0.84747|0.84747	.|.	.|.	ENSG00000135108|ENSG00000135108	ENST00000427718;ENST00000257563;ENST00000535590;ENST00000330622|ENST00000550180	.|.	.|.	.|.	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	0.058331|.	0.64402|.	D|.	0.000002|.	.|T	.|0.76506	.|0.3997	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74680	.|-0.3584	.|3	0.14252|.	T|.	0.57|.	-14.5205|-14.5205	19.3563|19.3563	0.94416|0.94416	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|V	155;71;71;155|98	.|.	ENSP00000257563:E71X|.	E|G	-|-	1|2	0|0	FBXO21|FBXO21	116108672|116108672	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.803000|4.803000	0.62546|0.62546	2.670000|2.670000	0.90874|0.90874	0.655000|0.655000	0.94253|0.94253	GAA|GGA		0.388	FBXO21-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404409.1	NM_033624		A	117624289	C	A	117624289	4	1	731	1	0	0	0	0	0	1	0	0	5735	864	30	4	1463	4	FBXO21	12	117624289	Nonsense_Mutation	SNP	C	TCGA-KN-8425-01A-11D-2310-10	62811449	117624289	16227606	45	41172											
TMEM30B	161291	mdanderson.org	37	14	61747644	61747644	+	Silent	SNP	A	A	G	rs3196765	byFrequency	TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr14:61747644A>G	ENST00000555868.1	-	1	914	c.222T>C	c.(220-222)ggT>ggC	p.G74G	TMEM30B_ENST00000355702.2_Silent_p.G74G|TMEM30B_ENST00000557163.1_5'UTR	NM_001017970.2	NP_001017970.1	Q3MIR4	CC50B_HUMAN	transmembrane protein 30B	74					lipid transport (GO:0006869)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	6				OV - Ovarian serous cystadenocarcinoma(108;0.107)|BRCA - Breast invasive adenocarcinoma(234;0.181)		CCGAGCAGTTACCGGTGCCCG	0.706													G|||	3905	0.779752	0.6528	0.7392	5008	,	,		11768	0.8591		0.8638	False		,,,				2504	0.8119															0								G		2664,1138		957,750,194	6	5	6		222	4.3	1	14	dbSNP_105	6	6522,954		2863,796,79	no	coding-synonymous	TMEM30B	NM_001017970.2		3820,1546,273	GG,GA,AA		12.7608,29.9316,18.5494		74/352	61747644	9186,2092	1901	3738	5639	SO:0001819	synonymous_variant	161291			AK091169	CCDS32093.1	14q23.1	2006-09-20				ENSG00000182107			27254	protein-coding gene	gene with protein product		611029				15375526	Standard	NM_001017970		Approved	CDC50B	uc001xfl.3	Q3MIR4		ENST00000555868.1:c.222T>C	14.37:g.61747644A>G			B3KR84|Q14D00	Silent	SNP	ENST00000555868.1	37	CCDS32093.1																																																																																				0.706	TMEM30B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413358.1	XM_090844		G	61747644	A	G	61747644	2	3	731	1	0	0	0	0	0	0	0	1	16159	378	14	3		3	TMEM30B	14	61747644	Silent	SNP	A	TCGA-KN-8425-01A-11D-2310-10		61747644	45601896	46	41173											
PLEKHG3	26030	broad.mit.edu	37	14	65209023	65209024	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr14:65209023_65209024insC	ENST00000394691.1	+	16	2935_2936	c.2788_2789insC	c.(2788-2790)gccfs	p.A930fs	PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000247226.7_Frame_Shift_Ins_p.A874fs|PLEKHG3_ENST00000484731.2_Frame_Shift_Ins_p.A435fs|PLEKHG3_ENST00000471182.2_Frame_Shift_Ins_p.A463fs			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	930							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		CTACCAGCTGGCCCGCCAGTAC	0.644																																																0																																										SO:0001589	frameshift_variant	26030			AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	20364	protein-coding gene	gene with protein product			"KIAA0599"	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.2791dupC	14.37:g.65209026_65209026dupC	ENSP00000378183:p.Ala930fs		A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Frame_Shift_Ins	INS	ENST00000394691.1	37																																																																																					0.644	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412028.1	NM_015549		C	65209024	-	C	65209023	7	5	731	1	0	1	1	0	0	0	0	0	12072	1203	42	0	2670	0	PLEKHG3	14	65209023	Frame_Shift_Ins	INS	-	TCGA-KN-8425-01A-11D-2310-10	3461379	65209023	42140517	47	41174											
BAG5	9529	bcgsc.ca	37	14	104026390	104026390	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr14:104026390T>C	ENST00000445922.2	-	2	1358	c.1112A>G	c.(1111-1113)aAc>aGc	p.N371S	RP11-894P9.2_ENST00000556332.1_RNA|APOPT1_ENST00000409074.2_5'Flank|APOPT1_ENST00000556253.2_5'Flank|BAG5_ENST00000337322.4_Missense_Mutation_p.N412S|BAG5_ENST00000299204.4_Missense_Mutation_p.N371S|APOPT1_ENST00000247618.4_5'Flank|RP11-73M18.2_ENST00000472726.2_5'Flank	NM_004873.3	NP_004864.1	Q9UL15	BAG5_HUMAN	BCL2-associated athanogene 5	371	BAG 5. {ECO:0000255|PROSITE- ProRule:PRU00369}.				negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein refolding (GO:0061084)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron death (GO:0070997)|protein folding (GO:0006457)|regulation of inclusion body assembly (GO:0090083)	inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chaperone binding (GO:0051087)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	24		Melanoma(154;0.155)	Epithelial(46;0.144)			TCCAAGGACGTTCCAGACGGC	0.468																																					NSCLC(171;1832 2055 18950 31566 41632)											0													108	118	114					14																	104026390		2203	4300	6503	SO:0001583	missense	9529			AF095195	CCDS9982.1, CCDS41995.1	14q32	2008-08-01				ENSG00000166170			941	protein-coding gene	gene with protein product		603885				9873016, 15603737	Standard	NM_001015048		Approved		uc001ynh.2	Q9UL15		ENST00000445922.2:c.1112A>G	14.37:g.104026390T>C	ENSP00000391713:p.Asn371Ser		O94950|Q86W59	Missense_Mutation	SNP	ENST00000445922.2	37	CCDS9982.1	.	.	.	.	.	.	.	.	.	.	T	0.016	-1.534118	0.00951	.	.	ENSG00000166170	ENST00000299204;ENST00000445922;ENST00000337322	D;D;D	0.88124	-2.34;-2.34;-2.34	5.76	-4.14	0.03892	BAG domain (3);	1.814820	0.02770	N	0.119546	T	0.69735	0.3144	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	0.62220	-0.6900	10	0.13108	T	0.6	-0.4667	9.606	0.39634	0.0:0.3661:0.3681:0.2658	.	371;412	Q9UL15;Q9UL15-2	BAG5_HUMAN;.	S	371;371;412	ENSP00000299204:N371S;ENSP00000391713:N371S;ENSP00000338814:N412S	ENSP00000299204:N371S	N	-	2	0	BAG5	103096143	0.000000	0.05858	0.000000	0.03702	0.076000	0.17211	-1.686000	0.01929	-0.743000	0.04784	0.533000	0.62120	AAC		0.468	BAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414990.1			C	104026390	T	C	104026390	3	2	731	1	0	0	0	0	1	0	0	0	1290	1725	60	3	235	3	BAG5	14	104026390	Missense_Mutation	SNP	T	TCGA-KN-8425-01A-11D-2310-10	38817367	104026390	3323150	48	41175											
DNAJC17	55192	hgsc.bcm.edu	37	15	41060179	41060179	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr15:41060179C>T	ENST00000220496.4	-	11	904	c.874G>A	c.(874-876)Gca>Aca	p.A292T	C15orf62_ENST00000344320.6_5'Flank|DNAJC17_ENST00000558727.1_5'UTR	NM_018163.2	NP_060633.1	Q9NVM6	DJC17_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 17	292					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)		nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|skin(1)	6		all_cancers(109;4.16e-14)|all_epithelial(112;9.68e-12)|Lung NSC(122;3.19e-09)|all_lung(180;6.45e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		TGCATCCGTGCGATCAGCTGT	0.607																																																0													76	68	70					15																	41060179		2203	4300	6503	SO:0001583	missense	55192			AK001496	CCDS10065.1	15q15.1	2014-02-12			ENSG00000104129	ENSG00000104129		"Heat shock proteins / DNAJ (HSP40)", "RNA binding motif (RRM) containing"	25556	protein-coding gene	gene with protein product						12477932	Standard	NM_018163		Approved	FLJ10634	uc001zms.2	Q9NVM6	OTTHUMG00000130065	ENST00000220496.4:c.874G>A	15.37:g.41060179C>T	ENSP00000220496:p.Ala292Thr			Missense_Mutation	SNP	ENST00000220496.4	37	CCDS10065.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.457642	0.43634	.	.	ENSG00000104129	ENST00000220496	T	0.17691	2.26	5.74	3.87	0.44632	.	0.103900	0.64402	D	0.000004	T	0.18425	0.0442	L	0.60455	1.87	0.36819	D	0.886305	B	0.10296	0.003	B	0.09377	0.004	T	0.06197	-1.0840	10	0.54805	T	0.06	.	10.9764	0.47469	0.0:0.8536:0.0:0.1464	.	292	Q9NVM6	DJC17_HUMAN	T	292	ENSP00000220496:A292T	ENSP00000220496:A292T	A	-	1	0	DNAJC17	38847471	0.919000	0.31177	0.767000	0.31495	0.282000	0.26991	1.831000	0.39141	0.900000	0.36469	0.561000	0.74099	GCA		0.607	DNAJC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252356.2	NM_018163		T	41060179	C	T	41060179	3	4	731	1	0	0	0	0	1	0	0	0	4638	768	27	1	44	1	DNAJC17	15	41060179	Missense_Mutation	SNP	C	TCGA-KN-8425-01A-11D-2310-10		41060179	61471213	49	41176											
CEP152	22995	broad.mit.edu;mdanderson.org;bcgsc.ca	37	15	49081131	49081131	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr15:49081131T>C	ENST00000380950.2	-	9	1227	c.1040A>G	c.(1039-1041)cAt>cGt	p.H347R	CEP152_ENST00000399334.3_Missense_Mutation_p.H347R|CEP152_ENST00000325747.5_Missense_Mutation_p.H254R	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	347					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)		TTCAGAATGATGAAGGTCCAC	0.408																																																0													175	160	165					15																	49081131		1938	4147	6085	SO:0001583	missense	22995			AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"asterless"	613529	"microcephaly, primary autosomal recessive 4"	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.1040A>G	15.37:g.49081131T>C	ENSP00000370337:p.His347Arg		E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	37	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	T	2.260	-0.369551	0.05069	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334;ENST00000541880	T;T;T	0.75589	-0.95;-0.95;-0.95	5.79	-3.12	0.05282	.	0.430803	0.27932	N	0.017275	T	0.43722	0.1260	N	0.10664	0.02	0.09310	N	1	B;B;B	0.11235	0.004;0.0;0.0	B;B;B	0.11329	0.006;0.001;0.002	T	0.42344	-0.9457	10	0.06625	T	0.88	-4.476	9.3157	0.37932	0.0:0.4731:0.1117:0.4153	.	254;347;347	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	R	347;254;347;347	ENSP00000370337:H347R;ENSP00000321000:H254R;ENSP00000382271:H347R	ENSP00000321000:H254R	H	-	2	0	CEP152	46868423	0.768000	0.28519	0.180000	0.23079	0.984000	0.73092	0.432000	0.21461	-0.336000	0.08438	0.533000	0.62120	CAT		0.408	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		C	49081131	T	C	49081131	3	2	731	1	0	0	0	0	1	0	0	0	3250	1464	51	3	3996	3	CEP152	15	49081131	Missense_Mutation	SNP	T	TCGA-KN-8425-01A-11D-2310-10	8020952	49081131	53450261	50	41177											
ACAN	176	broad.mit.edu;mdanderson.org;bcgsc.ca	37	15	89383275	89383275	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr15:89383275C>T	ENST00000561243.1	+	3	487	c.487C>T	c.(487-489)Cgc>Tgc	p.R163C	ACAN_ENST00000558207.1_Missense_Mutation_p.R163C|ACAN_ENST00000559004.1_Missense_Mutation_p.R163C|ACAN_ENST00000439576.2_Missense_Mutation_p.R163C|ACAN_ENST00000352105.7_Missense_Mutation_p.R163C			P16112	PGCA_HUMAN	aggrecan	163	G1-B.|Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				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)			CATCTCTACACGCTACACCCT	0.597																																																0													47	43	44					15																	89383275		2126	4231	6357	SO:0001583	missense	176			M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	319	protein-coding gene	gene with protein product	"aggrecan proteoglycan"	155760	"chondroitin sulfate proteoglycan 1", "aggrecan 1"	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.487C>T	15.37:g.89383275C>T	ENSP00000453342:p.Arg163Cys		Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.331458	0.60853	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.15372	2.43;2.43	5.79	5.79	0.91817	.	0.000000	0.33075	N	0.005313	T	0.51550	0.1681	M	0.93854	3.465	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.61926	-0.6962	10	0.87932	D	0	-18.174	12.6082	0.56535	0.2601:0.7399:0.0:0.0	.	163;163;163	E7ENV9;E7EX88;Q6PID9	.;.;.	C	163	ENSP00000387356:R163C;ENSP00000341615:R163C	ENSP00000268134:R163C	R	+	1	0	ACAN	87184279	1.000000	0.71417	0.982000	0.44146	0.756000	0.42949	4.786000	0.62425	2.733000	0.93635	0.655000	0.94253	CGC		0.597	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		T	89383275	C	T	89383275	3	4	731	1	0	0	0	0	1	0	0	0	117	536	19	1	497	1	ACAN	15	89383275	Missense_Mutation	SNP	C	TCGA-KN-8425-01A-11D-2310-10	40302144	89383275	13148117	51	41178											
CRAMP1L	57585	broad.mit.edu	37	16	1705979	1705979	+	Silent	SNP	A	A	G			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr16:1705979A>G	ENST00000397412.3	+	10	1320	c.1221A>G	c.(1219-1221)acA>acG	p.T407T	CRAMP1L_ENST00000262317.4_Intron|CRAMP1L_ENST00000436138.3_Silent_p.T404T|CRAMP1L_ENST00000293925.5_Silent_p.T407T|LA16c-431H6.6_ENST00000454337.1_Intron			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	407						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						GTACACTGACACCGCTGCCGG	0.647																																																0													33	38	36					16																	1705979		2172	4272	6444	SO:0001819	synonymous_variant	57585			AB037847	CCDS10440.2	16p13.3	2008-07-30	2001-11-28		ENSG00000007545	ENSG00000007545			14122	protein-coding gene	gene with protein product			"Crm (Cramped Drosophila)-like"				Standard	NM_020825		Approved	KIAA1426	uc010uvh.2	Q96RY5	OTTHUMG00000074087	ENST00000397412.3:c.1221A>G	16.37:g.1705979A>G			A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Silent	SNP	ENST00000397412.3	37	CCDS10440.2																																																																																				0.647	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157297.4			G	1705979	A	G	1705979	2	3	731	1	0	0	0	0	0	0	0	1	3848	146	6	3		3	CRAMP1L	16	1705979	Silent	SNP	A	TCGA-KN-8425-01A-11D-2310-10		1705979	88648774	52	41179											
MAPK3	5595	hgsc.bcm.edu	37	16	30128095	30128095	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr16:30128095G>T	ENST00000263025.4	-	8	1118	c.1034C>A	c.(1033-1035)cCc>cAc	p.P345H	MAPK3_ENST00000403394.1_3'UTR|MAPK3_ENST00000484663.1_Missense_Mutation_p.P231H|MAPK3_ENST00000322266.5_Missense_Mutation_p.P301H|MAPK3_ENST00000494643.1_5'Flank|GDPD3_ENST00000406256.3_5'Flank|MAPK3_ENST00000395200.1_Missense_Mutation_p.P277H|MAPK3_ENST00000395202.1_Missense_Mutation_p.P301H	NM_002746.2	NP_002737.2	P27361	MK03_HUMAN	mitogen-activated protein kinase 3	345					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)	GAAGGTGAAGGGCTCCTCGGC	0.662																																																0													43	46	45					16																	30128095		2197	4300	6497	SO:0001583	missense	5595			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.1034C>A	16.37:g.30128095G>T	ENSP00000263025:p.Pro345His		A8CZ58|B0LPG3|Q8NHX1	Missense_Mutation	SNP	ENST00000263025.4	37	CCDS10672.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.498895	0.85069	.	.	ENSG00000102882	ENST00000263025;ENST00000484663;ENST00000322266;ENST00000395200;ENST00000395202;ENST00000478356	T;T;T;T;T;T	0.77489	-1.1;-1.01;-1.07;0.61;-1.07;2.77	5.79	5.79	0.91817	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.90875	0.7133	M	0.92507	3.315	0.80722	D	1	D;B	0.76494	0.999;0.268	D;B	0.69479	0.964;0.067	D	0.92267	0.5822	10	0.66056	D	0.02	-0.0145	18.7978	0.92003	0.0:0.0:1.0:0.0	.	301;345	P27361-2;P27361	.;MK03_HUMAN	H	345;231;301;277;301;108	ENSP00000263025:P345H;ENSP00000432742:P231H;ENSP00000327293:P301H;ENSP00000378626:P277H;ENSP00000378628:P301H;ENSP00000432292:P108H	ENSP00000263025:P345H	P	-	2	0	MAPK3	30035596	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	9.635000	0.98437	2.735000	0.93741	0.655000	0.94253	CCC		0.662	MAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255196.2			T	30128095	G	T	30128095	3	4	731	1	0	0	0	0	1	0	0	0	9281	1232	43	4	109	4	MAPK3	16	30128095	Missense_Mutation	SNP	G	TCGA-KN-8425-01A-11D-2310-10	28422116	30128095	60226658	53	41180											
RAP1GAP2	23108	bcgsc.ca	37	17	2901629	2901629	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr17:2901629G>A	ENST00000254695.8	+	14	1249	c.1159G>A	c.(1159-1161)Gtg>Atg	p.V387M	RAP1GAP2_ENST00000366401.4_Missense_Mutation_p.V372M|RAP1GAP2_ENST00000542807.1_Missense_Mutation_p.V387M|RAP1GAP2_ENST00000540393.2_Missense_Mutation_p.V368M	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	387	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				negative regulation of neuron projection development (GO:0010977)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|nuclear membrane (GO:0031965)	Rap GTPase activator activity (GO:0046582)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						CTACATCGTCGTGCAGGTCGA	0.532																																																0													99	99	99					17																	2901629		2055	4186	6241	SO:0001583	missense	23108			AB028962	CCDS45573.1, CCDS45574.1	17p13.3	2009-09-14	2009-09-14	2009-09-14		ENSG00000132359			29176	protein-coding gene	gene with protein product			"GTPase activating RANGAP domain-like 4", "GTPase activating Rap/RanGAP domain-like 4"	GARNL4		15632203	Standard	NM_015085		Approved	KIAA1039	uc010ckd.3	Q684P5		ENST00000254695.8:c.1159G>A	17.37:g.2901629G>A	ENSP00000254695:p.Val387Met		B2RTY5|Q684P4|Q6AI00|Q6ZVF0|Q9UPW2	Missense_Mutation	SNP	ENST00000254695.8	37	CCDS45573.1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.749844	0.69533	.	.	ENSG00000132359	ENST00000254695;ENST00000366401;ENST00000540393;ENST00000542807	D;D;D;D	0.96745	-4.11;-4.11;-4.11;-4.11	5.66	5.66	0.87406	Rap/ran-GAP (2);	0.112822	0.64402	D	0.000010	D	0.98915	0.9632	H	0.98027	4.13	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.66979	0.92;0.948	D	0.99414	1.0931	10	0.87932	D	0	-1.3817	18.7291	0.91728	0.0:0.0:1.0:0.0	.	372;387	Q684P5-2;Q684P5	.;RPGP2_HUMAN	M	387;372;368;387	ENSP00000254695:V387M;ENSP00000389824:V372M;ENSP00000439688:V368M;ENSP00000444890:V387M	ENSP00000254695:V387M	V	+	1	0	RAP1GAP2	2848379	1.000000	0.71417	0.945000	0.38365	0.122000	0.20287	9.869000	0.99810	2.670000	0.90874	0.561000	0.74099	GTG		0.532	RAP1GAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438208.2			A	2901629	G	A	2901629	3	1	731	1	0	0	0	0	1	0	0	0	13044	1145	40	1	1213	1	RAP1GAP2	17	2901629	Missense_Mutation	SNP	G	TCGA-KN-8425-01A-11D-2310-10		2901629	78293581	54	41181											
CHD3	1107	broad.mit.edu;hgsc.bcm.edu	37	17	7793910	7793910	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr17:7793910T>C	ENST00000330494.7	+	3	385	c.235T>C	c.(235-237)Tct>Cct	p.S79P	CHD3_ENST00000380358.4_Missense_Mutation_p.S138P|CHD3_ENST00000358181.4_Missense_Mutation_p.S79P|CHD3_ENST00000570758.1_3'UTR	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	79					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GGAATTTGGTTCTGAGCGAGA	0.448																																																0													39	42	41					17																	7793910		2203	4300	6503	SO:0001583	missense	1107			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"Zinc fingers, PHD-type"	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.235T>C	17.37:g.7793910T>C	ENSP00000332628:p.Ser79Pro		D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	37	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	T	14.64	2.596618	0.46318	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	T;D;D	0.90261	1.47;-2.64;-2.64	4.76	4.76	0.60689	.	0.000000	0.38605	N	0.001630	D	0.92704	0.7681	L	0.43152	1.355	0.52501	D	0.999958	D;D;D	0.69078	0.997;0.995;0.995	D;D;D	0.75484	0.986;0.969;0.979	D	0.92477	0.5990	10	0.44086	T	0.13	-10.0278	14.2672	0.66126	0.0:0.0:0.0:1.0	.	79;79;138	Q12873-2;Q12873;E9PG89	.;CHD3_HUMAN;.	P	138;79;79	ENSP00000369716:S138P;ENSP00000350907:S79P;ENSP00000332628:S79P	ENSP00000332628:S79P	S	+	1	0	CHD3	7734635	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.390000	0.79816	1.765000	0.52091	0.383000	0.25322	TCT		0.448	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		C	7793910	T	C	7793910	3	2	731	1	0	0	0	0	1	0	0	0	3328	1783	62	3	526	3	CHD3	17	7793910	Missense_Mutation	SNP	T	TCGA-KN-8425-01A-11D-2310-10	4892281	7793910	73401300	55	41182											
ABCC3	8714	bcgsc.ca	37	17	48744970	48744970	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr17:48744970A>G	ENST00000285238.8	+	12	1567	c.1487A>G	c.(1486-1488)aAc>aGc	p.N496S	ABCC3_ENST00000427699.1_Missense_Mutation_p.N496S	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	496	ABC transmembrane type-1 1. {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)	GAGATCCTGAACGGCATCAAG	0.592																																																0													85	71	75					17																	48744970		2203	4300	6503	SO:0001583	missense	8714			Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"ATP binding cassette transporters / subfamily C"	54	protein-coding gene	gene with protein product	"canalicular multispecific organic anion transporter 2"	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.1487A>G	17.37:g.48744970A>G	ENSP00000285238:p.Asn496Ser		B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Missense_Mutation	SNP	ENST00000285238.8	37	CCDS32681.1	.	.	.	.	.	.	.	.	.	.	A	1.000	-0.691101	0.03303	.	.	ENSG00000108846	ENST00000427699;ENST00000285238	D;D	0.88431	-2.38;-2.38	3.92	0.653	0.17828	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.715086	0.13639	N	0.373093	T	0.76499	0.3996	N	0.21142	0.635	0.32001	N	0.603402	B;B	0.24823	0.008;0.112	B;B	0.30855	0.026;0.121	T	0.64947	-0.6287	10	0.07175	T	0.84	-0.0616	4.479	0.11757	0.2791:0.1635:0.5574:0.0	.	496;496	O15438;O15438-5	MRP3_HUMAN;.	S	496	ENSP00000395160:N496S;ENSP00000285238:N496S	ENSP00000285238:N496S	N	+	2	0	ABCC3	46099969	0.631000	0.27164	0.520000	0.27837	0.765000	0.43378	1.047000	0.30367	0.075000	0.16796	-0.427000	0.05922	AAC		0.592	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2	NM_020038		G	48744970	A	G	48744970	3	3	731	1	0	0	0	0	1	0	0	0	54	43	2	3	1533	3	ABCC3	17	48744970	Missense_Mutation	SNP	A	TCGA-KN-8425-01A-11D-2310-10	40951060	48744970	32450240	56	41183											
RPTOR	57521	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	17	78866565	78866565	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr17:78866565G>T	ENST00000306801.3	+	19	2500	c.2138G>T	c.(2137-2139)tGc>tTc	p.C713F	RPTOR_ENST00000544334.2_Missense_Mutation_p.C555F|RPTOR_ENST00000575542.1_3'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	713					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						GACAGCCCGTGCACCCCCAGA	0.542																																																0													130	133	132					17																	78866565		2203	4300	6503	SO:0001583	missense	57521				CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"WD repeat domain containing"	30287	protein-coding gene	gene with protein product	"regulatory associated protein of mTOR"	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.2138G>T	17.37:g.78866565G>T	ENSP00000307272:p.Cys713Phe		B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	ENST00000306801.3	37	CCDS11773.1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.133093	0.37630	.	.	ENSG00000141564	ENST00000306801;ENST00000544334	T;T	0.42131	1.03;0.98	4.66	4.66	0.58398	Armadillo-like helical (1);Armadillo-type fold (1);	0.158118	0.42053	D	0.000768	T	0.25938	0.0632	N	0.08118	0	0.80722	D	1	P;B	0.36249	0.545;0.001	B;B	0.34931	0.192;0.004	T	0.11891	-1.0569	10	0.33940	T	0.23	.	17.5562	0.87890	0.0:0.0:1.0:0.0	.	555;713	F5H7J5;Q8N122	.;RPTOR_HUMAN	F	713;555	ENSP00000307272:C713F;ENSP00000442479:C555F	ENSP00000307272:C713F	C	+	2	0	RPTOR	76481160	1.000000	0.71417	0.998000	0.56505	0.386000	0.30323	6.441000	0.73439	2.143000	0.66587	0.655000	0.94253	TGC		0.542	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761		T	78866565	G	T	78866565	3	4	731	1	0	0	0	0	1	0	0	0	13671	1319	46	4	2212	4	RPTOR	17	78866565	Missense_Mutation	SNP	G	TCGA-KN-8425-01A-11D-2310-10	30121595	78866565	2328645	57	41184											
SLC39A3	29985	bcgsc.ca	37	19	2732787	2732787	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr19:2732787A>G	ENST00000269740.4	-	3	1236	c.907T>C	c.(907-909)Tac>Cac	p.Y303H	SLC39A3_ENST00000545664.1_Missense_Mutation_p.Y303H|AC006538.4_ENST00000586572.1_Intron	NM_144564.4	NP_653165.2	Q9BRY0	S39A3_HUMAN	solute carrier family 39 (zinc transporter), member 3	303					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGACGGTGTAGCCCAGCACC	0.672																																																0													48	38	41					19																	2732787		2203	4299	6502	SO:0001583	missense	29985			AF052125	CCDS12093.1, CCDS45909.1	19p13.3	2013-05-22			ENSG00000141873	ENSG00000141873		"Solute carriers"	17128	protein-coding gene	gene with protein product		612168				10681536	Standard	NM_144564		Approved	ZIP3	uc002lwg.3	Q9BRY0		ENST00000269740.4:c.907T>C	19.37:g.2732787A>G	ENSP00000269740:p.Tyr303His		B3KMJ3|Q8WUG1	Missense_Mutation	SNP	ENST00000269740.4	37	CCDS12093.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.949013	0.73787	.	.	ENSG00000141873	ENST00000545664;ENST00000269740	T;T	0.48201	0.82;0.82	4.6	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.64125	0.2570	M	0.64997	1.995	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.75020	0.971;0.985	T	0.67956	-0.5536	10	0.87932	D	0	-19.2825	12.7846	0.57498	1.0:0.0:0.0:0.0	.	303;303	F5H385;Q9BRY0	.;S39A3_HUMAN	H	303	ENSP00000445345:Y303H;ENSP00000269740:Y303H	ENSP00000269740:Y303H	Y	-	1	0	SLC39A3	2683787	1.000000	0.71417	0.958000	0.39756	0.788000	0.44548	8.720000	0.91442	1.698000	0.51180	0.374000	0.22700	TAC		0.672	SLC39A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451354.2			G	2732787	A	G	2732787	3	3	731	1	0	0	0	0	1	0	0	0	14625	420	15	3	41	3	SLC39A3	19	2732787	Missense_Mutation	SNP	A	TCGA-KN-8425-01A-11D-2310-10		2732787	56396196	58	41185											
EBI3	10148	mdanderson.org	37	19	4237067	4237067	+	Silent	SNP	A	A	G	rs4905	byFrequency	TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr19:4237067A>G	ENST00000221847.5	+	5	725	c.672A>G	c.(670-672)acA>acG	p.T224T		NM_005755.2	NP_005746.2	Q14213	IL27B_HUMAN	Epstein-Barr virus induced 3	224	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)		CCACTGCCACAATGAGCCTGG	0.657													G|||	2308	0.460863	0.6679	0.2767	5008	,	,		15560	0.4435		0.3052	False		,,,				2504	0.4898															0								G		2725,1681	481.7+/-359.2	844,1037,322	40	40	40		672	-7.3	0	19	dbSNP_52	40	2457,6143	665.9+/-402.3	372,1713,2215	no	coding-synonymous	EBI3	NM_005755.2		1216,2750,2537	GG,GA,AA		28.5698,38.1525,39.8431		224/230	4237067	5182,7824	2203	4300	6503	SO:0001819	synonymous_variant	10148			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.672A>G	19.37:g.4237067A>G			A0N0N2|O75269	Silent	SNP	ENST00000221847.5	37	CCDS12123.1																																																																																				0.657	EBI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458005.1			G	4237067	A	G	4237067	2	3	731	1	0	0	0	0	0	0	0	1	4885	117	5	3		3	EBI3	19	4237067	Silent	SNP	A	TCGA-KN-8425-01A-11D-2310-10	1504280	4237067	54891916	59	41186											
MUC16	94025	mdanderson.org	37	19	8999445	8999445	+	Missense_Mutation	SNP	C	C	T	rs112439001	byFrequency	TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr19:8999445C>T	ENST00000397910.4	-	56	40933	c.40730G>A	c.(40729-40731)aGc>aAc	p.S13577N	MUC16_ENST00000380951.5_Missense_Mutation_p.S218N	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13579	SEA 10. {ECO:0000255|PROSITE- ProRule:PRU00188}.			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						CTCAGTGATGCTGTGGGTCAG	0.572													C|||	228	0.0455272	0.025	0.062	5008	,	,		20165	0.1012		0.0	False		,,,				2504	0.0511															0													231	193	206					19																	8999445		2056	4204	6260	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.40730G>A	19.37:g.8999445C>T	ENSP00000381008:p.Ser13577Asn		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	3.899|3.899	-0.022418|-0.022418	0.07634|0.07634	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000542240|ENST00000397910;ENST00000380951	.|T;T	.|0.29142	.|1.58;1.58	2.95|2.95	1.9|1.9	0.25705|0.25705	.|SEA (2);	.|.	.|.	.|.	.|.	T|T	0.42653|0.42653	0.1212|0.1212	.|.	.|.	.|.	.|.	.|.	.|.	.|B;P	.|0.44281	.|0.0;0.831	.|B;P	.|0.60541	.|0.003;0.876	T|T	0.49781|0.49781	-0.8903|-0.8903	3|7	.|0.41790	.|T	.|0.15	.|.	5.174|5.174	0.15126|0.15126	0.0:0.8277:0.0:0.1723|0.0:0.8277:0.0:0.1723	.|.	.|21222;13577	.|Q8WXI7;B5ME49	.|MUC16_HUMAN;.	T|N	417|13577;218	.|ENSP00000381008:S13577N;ENSP00000370338:S218N	.|ENSP00000370338:S218N	A|S	-|-	1|2	0|0	MUC16|MUC16	8860445|8860445	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.016000|0.016000	0.09150|0.09150	0.554000|0.554000	0.23407|0.23407	0.786000|0.786000	0.33708|0.33708	0.555000|0.555000	0.69702|0.69702	GCA|AGC		0.572	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	8999445	C	T	8999445	3	4	731	1	0	0	0	0	1	0	0	0	9975	797	28	2	2909	2	MUC16	19	8999445	Missense_Mutation	SNP	C	TCGA-KN-8425-01A-11D-2310-10	4762378	8999445	50129538	60	41187											
MUC16	94025	mdanderson.org	37	19	9012858	9012858	+	Silent	SNP	G	G	A	rs111669353		TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr19:9012858G>A	ENST00000397910.4	-	34	38789	c.38586C>T	c.(38584-38586)acC>acT	p.T12862T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12864	SEA 6. {ECO:0000255|PROSITE- ProRule:PRU00188}.			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						GGTTGGTGATGGTGAAGTTGA	0.537																																																0													255	217	229					19																	9012858		2027	4189	6216	SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.38586C>T	19.37:g.9012858G>A			Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																				0.537	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	9012858	G	A	9012858	2	1	731	1	0	0	0	0	0	0	0	1	9975	1335	47	2		2	MUC16	19	9012858	Silent	SNP	G	TCGA-KN-8425-01A-11D-2310-10	13413	9012858	50116125	61	41188											
MUC16	94025	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	19	9058813	9058813	+	Missense_Mutation	SNP	C	C	G			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr19:9058813C>G	ENST00000397910.4	-	3	28836	c.28633G>C	c.(28633-28635)Gtg>Ctg	p.V9545L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9547	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						GGAGATATCACTTTTGTTGGC	0.453																																																0													104	100	101					19																	9058813		1917	4133	6050	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.28633G>C	19.37:g.9058813C>G	ENSP00000381008:p.Val9545Leu		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	5.100	0.204117	0.09704	.	.	ENSG00000181143	ENST00000397910	T	0.23147	1.92	2.27	-0.0985	0.13628	.	.	.	.	.	T	0.14960	0.0361	N	0.24115	0.695	.	.	.	B	0.19817	0.039	B	0.23574	0.047	T	0.25467	-1.0131	8	0.87932	D	0	.	3.2643	0.06859	0.0:0.5449:0.2801:0.175	.	9545	B5ME49	.	L	9545	ENSP00000381008:V9545L	ENSP00000381008:V9545L	V	-	1	0	MUC16	8919813	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.943000	0.03917	0.051000	0.15978	0.305000	0.20034	GTG		0.453	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		G	9058813	C	G	9058813	3	3	731	1	0	0	0	0	1	0	0	0	9975	565	20	4	15218	4	MUC16	19	9058813	Missense_Mutation	SNP	C	TCGA-KN-8425-01A-11D-2310-10	45955	9058813	50070170	62	41189											
CEACAM1	634	mdanderson.org	37	19	43031318	43031318	+	Missense_Mutation	SNP	G	G	A	rs199627333		TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr19:43031318G>A	ENST00000161559.6	-	2	433	c.299C>T	c.(298-300)aCa>aTa	p.T100I	CEACAM1_ENST00000358394.3_Missense_Mutation_p.T100I|CEACAM1_ENST00000352591.5_Missense_Mutation_p.T100I|CEACAM1_ENST00000599389.1_Missense_Mutation_p.T100I|LIPE-AS1_ENST00000594688.1_RNA|CEACAM1_ENST00000403461.1_Missense_Mutation_p.T100I|LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000351134.3_Missense_Mutation_p.T100I|CEACAM1_ENST00000403444.3_Missense_Mutation_p.T100I|CEACAM1_ENST00000308072.4_Missense_Mutation_p.T60I|LIPE-AS1_ENST00000457234.2_RNA	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	100	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)	GGGGTATATTGTCTCTCGACC	0.473																																																0													358	304	322					19																	43031318		2203	4300	6503	SO:0001583	missense	634			M72238	CCDS12609.1, CCDS46089.1, CCDS54272.1, CCDS54273.1, CCDS54274.1	19q13.2	2014-05-16			ENSG00000079385	ENSG00000079385		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1814	protein-coding gene	gene with protein product		109770		BGP		2457922, 2025273	Standard	NM_001712		Approved	BGP1, CD66a	uc002otv.3	P13688	OTTHUMG00000151078	ENST00000161559.6:c.299C>T	19.37:g.43031318G>A	ENSP00000161559:p.Thr100Ile		A6NE38|A8MY49|O60430|Q069I7|Q13854|Q13857|Q13858|Q13859|Q13860|Q15600|Q15601|Q16170|Q5UB49|Q7KYP5|Q96CA7|Q9UQV9	Missense_Mutation	SNP	ENST00000161559.6	37	CCDS12609.1	.	.	.	.	.	.	.	.	.	.	g	8.472	0.857824	0.17178	.	.	ENSG00000079385	ENST00000161559;ENST00000358394;ENST00000351134;ENST00000446434;ENST00000378065;ENST00000352591;ENST00000403444;ENST00000403461;ENST00000308072;ENST00000377806;ENST00000344391;ENST00000403136	T;T;T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33	4.41	-0.431	0.12295	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.46737	0.1408	L	0.33485	1.01	0.09310	N	1	B;B;B;B;B;B;B;B;B;B	0.31989	0.35;0.005;0.001;0.003;0.001;0.005;0.197;0.012;0.022;0.054	B;B;B;B;B;B;B;B;B;B	0.30495	0.103;0.005;0.003;0.006;0.002;0.01;0.116;0.007;0.051;0.026	T	0.26710	-1.0095	9	0.24483	T	0.36	.	3.4213	0.07395	0.1214:0.1385:0.5979:0.1422	.	100;100;100;100;100;100;100;100;100;100	P13688-7;P13688-10;P13688-3;P13688-4;P13688-2;P13688-11;P13688-6;P13688-5;P13688-8;P13688	.;.;.;.;.;.;.;.;.;CEAM1_HUMAN	I	100;100;100;127;60;100;100;100;60;100;100;100	ENSP00000161559:T100I;ENSP00000351165:T100I;ENSP00000325946:T100I;ENSP00000244291:T100I;ENSP00000384709:T100I;ENSP00000384083:T100I;ENSP00000312184:T60I	ENSP00000161559:T100I	T	-	2	0	CEACAM1	47723158	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	-1.426000	0.02443	-0.044000	0.13491	-2.357000	0.00240	ACA		0.473	CEACAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321190.2	NM_001712		A	43031318	G	A	43031318	3	1	731	1	0	0	0	0	1	0	0	0	3189	1377	48	2	1410	2	CEACAM1	19	43031318	Missense_Mutation	SNP	G	TCGA-KN-8425-01A-11D-2310-10	33972505	43031318	16097665	63	41190			2	94		2	2	12	G		2.380713e-05
CEACAM1	634	mdanderson.org	37	19	43031329	43031329	+	Silent	SNP	G	G	A	rs143477834		TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr19:43031329G>A	ENST00000161559.6	-	2	422	c.288C>T	c.(286-288)agC>agT	p.S96S	CEACAM1_ENST00000358394.3_Silent_p.S96S|CEACAM1_ENST00000352591.5_Silent_p.S96S|CEACAM1_ENST00000599389.1_Silent_p.S96S|LIPE-AS1_ENST00000594688.1_RNA|CEACAM1_ENST00000403461.1_Silent_p.S96S|LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000351134.3_Silent_p.S96S|CEACAM1_ENST00000403444.3_Silent_p.S96S|CEACAM1_ENST00000308072.4_Silent_p.S56S|LIPE-AS1_ENST00000457234.2_RNA	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	96	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)	TCTCTCGACCGCTGTTTGCGG	0.488																																																0													338	284	303					19																	43031329		2203	4300	6503	SO:0001819	synonymous_variant	634			M72238	CCDS12609.1, CCDS46089.1, CCDS54272.1, CCDS54273.1, CCDS54274.1	19q13.2	2014-05-16			ENSG00000079385	ENSG00000079385		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1814	protein-coding gene	gene with protein product		109770		BGP		2457922, 2025273	Standard	NM_001712		Approved	BGP1, CD66a	uc002otv.3	P13688	OTTHUMG00000151078	ENST00000161559.6:c.288C>T	19.37:g.43031329G>A			A6NE38|A8MY49|O60430|Q069I7|Q13854|Q13857|Q13858|Q13859|Q13860|Q15600|Q15601|Q16170|Q5UB49|Q7KYP5|Q96CA7|Q9UQV9	Silent	SNP	ENST00000161559.6	37	CCDS12609.1																																																																																				0.488	CEACAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321190.2	NM_001712		A	43031329	G	A	43031329	2	1	731	1	0	0	0	0	0	0	0	1	3189	1078	38	1		1	CEACAM1	19	43031329	Silent	SNP	G	TCGA-KN-8425-01A-11D-2310-10	11	43031329	16097654	64	41191			2	94		2	2	12	G		2.380713e-05
MYH14	79784	broad.mit.edu	37	19	50805044	50805045	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr19:50805044_50805045insC	ENST00000596571.1	+	37	5473_5474	c.5473_5474insC	c.(5473-5475)gccfs	p.A1825fs	MYH14_ENST00000440075.2_Frame_Shift_Ins_p.A1866fs|MYH14_ENST00000262269.8_Frame_Shift_Ins_p.A1866fs|MYH14_ENST00000598205.1_Frame_Shift_Ins_p.A1833fs|MYH14_ENST00000425460.1_Frame_Shift_Ins_p.A1833fs|MYH14_ENST00000376970.2_Frame_Shift_Ins_p.A1858fs|MYH14_ENST00000601313.1_Frame_Shift_Ins_p.A1866fs			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1825					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)		GGATGCTGGGGCCCGTGCCCGC	0.639																																																0																																										SO:0001589	frameshift_variant	79784			AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"Myosins / Myosin superfamily : Class II"	23212	protein-coding gene	gene with protein product		608568	"myosin, heavy polypeptide 14", "myosin, heavy chain 14"	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.5476dupC	19.37:g.50805047_50805047dupC	ENSP00000472819:p.Ala1825fs		B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Frame_Shift_Ins	INS	ENST00000596571.1	37	CCDS59411.1																																																																																				0.639	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		C	50805045	-	C	50805044	7	5	731	1	0	1	1	0	0	0	0	0	10035	1203	42	0	5750	0	MYH14	19	50805044	Frame_Shift_Ins	INS	-	TCGA-KN-8425-01A-11D-2310-10	7773715	50805044	8323939	65	41192											
NLRP9	338321	broad.mit.edu	37	19	56243852	56243852	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr19:56243852G>A	ENST00000332836.2	-	2	1372	c.1345C>T	c.(1345-1347)Caa>Taa	p.Q449*		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	449	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.Q449K(1)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CAAAACTCTTGGATACACAGA	0.502																																																1	Substitution - Missense(1)	large_intestine(1)											121	121	121					19																	56243852		2203	4300	6503	SO:0001587	stop_gained	338321			AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22941	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"	609663	"NACHT, leucine rich repeat and PYD containing 9"	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.1345C>T	19.37:g.56243852G>A	ENSP00000331857:p.Gln449*		B2RN12|Q86W27	Nonsense_Mutation	SNP	ENST00000332836.2	37	CCDS12934.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.950445	0.92660	.	.	ENSG00000185792	ENST00000332836;ENST00000333452	.	.	.	2.56	2.56	0.30785	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	11.3626	0.49653	0.0:0.0:1.0:0.0	.	.	.	.	X	449	.	ENSP00000331857:Q449X	Q	-	1	0	NLRP9	60935664	1.000000	0.71417	0.029000	0.17559	0.107000	0.19398	5.908000	0.69916	1.792000	0.52537	0.644000	0.83932	CAA		0.502	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820		A	56243852	G	A	56243852	4	1	731	1	0	0	0	0	0	1	0	0	10486	1357	47	2	1662	2	NLRP9	19	56243852	Nonsense_Mutation	SNP	G	TCGA-KN-8425-01A-11D-2310-10	5438808	56243852	2885131	66	41193											
SIRPA	140885	mdanderson.org	37	20	1895950	1895951	+	Missense_Mutation	DNP	CC	CC	GT	rs138283486|rs149634649|rs386811661	byFrequency	TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	CC	CC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr20:1895950_1895951CC>GT	ENST00000358771.4	+	2	437_438	c.285_286CC>GT	c.(283-288)gaCCtc>gaGTtc	p.95_96DL>EF	SIRPA_ENST00000400068.3_Missense_Mutation_p.95_96DL>EF|SIRPA_ENST00000356025.3_Missense_Mutation_p.95_96DL>EF	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	95	Ig-like V-type.		D -> E. {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9062191, ECO:0000269|PubMed:9070220}.|L -> S. {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9062191, ECO:0000269|PubMed:9070220}.		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)		CTGTTTCAGACCTCACAAAGAG	0.53																																					GBM(155;1668 1920 5945 42733 48121)											0																																										SO:0001583	missense	140885			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	Exception_encountered	20.37:g.1895950_1895951delinsGT	ENSP00000351621:p.D95_L96delinsEF		A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Missense_Mutation	DNP	ENST00000358771.4	37	CCDS13022.1																																																																																				0.53	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	NM_080792		GT	1895951	CC	GT	1895950	3	3	731	1	0	0	0	0	1	0	0	0	14338	506	18	4	291	4	SIRPA	20	1895950	Missense_Mutation	DNP	CC	TCGA-KN-8425-01A-11D-2310-10		1895950	61129570	67	41194											
EEF1A2	1917	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	20	62121830	62121830	+	Splice_Site	SNP	A	A	C			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr20:62121830A>C	ENST00000298049.7	-	5	1100		c.e5+1		EEF1A2_ENST00000217182.3_Splice_Site			Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2						positive regulation of apoptotic process (GO:0043065)|response to inorganic substance (GO:0010035)	eukaryotic translation elongation factor 1 complex (GO:0005853)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			GCAGCCCCCCACCTGGGAGGT	0.667																																																0													31	32	32					20																	62121830		2191	4286	6477	SO:0001630	splice_region_variant	1917			AF163763	CCDS13522.1	20q13.3	2010-06-03			ENSG00000101210	ENSG00000101210			3192	protein-coding gene	gene with protein product		602959	"statin-like", "statin"	STNL, STN		8354261, 8812466	Standard	NM_001958		Approved	EEF1AL, HS1	uc002yfe.2	Q05639	OTTHUMG00000033076	ENST00000298049.7:c.1029+1T>G	20.37:g.62121830A>C			B5BUF3|E1P5J1|P54266|Q0VGC7	Splice_Site	SNP	ENST00000298049.7	37	CCDS13522.1	.	.	.	.	.	.	.	.	.	.	A	13.15	2.151031	0.38021	.	.	ENSG00000101210	ENST00000298049;ENST00000217182	.	.	.	3.73	3.73	0.42828	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.718	0.57125	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EEF1A2	61592274	1.000000	0.71417	0.805000	0.32314	0.308000	0.27856	9.102000	0.94226	1.467000	0.48044	0.398000	0.26397	.		0.667	EEF1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080495.1	NM_001958	Intron	C	62121830	A	C	62121830	5	2	731	1	0	0	0	0	0	0	1	0	4926	173	6	5	372	5	EEF1A2	20	62121830	Splice_Site	SNP	A	TCGA-KN-8425-01A-11D-2310-10	60225880	62121830	903690	68	41195											
CDC45	8318	broad.mit.edu	37	22	19496202	19496202	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr22:19496202A>G	ENST00000407835.1	+	14	1461	c.1205A>G	c.(1204-1206)gAc>gGc	p.D402G	CDC45_ENST00000263201.1_Missense_Mutation_p.D402G|CDC45_ENST00000437685.2_Missense_Mutation_p.D434G|CDC45_ENST00000404724.3_Missense_Mutation_p.D356G			O75419	CDC45_HUMAN	cell division cycle 45	402					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|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)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						CAGGCTCTGGACAGCCTCTCC	0.602																																																0													75	61	66					22																	19496202		2203	4300	6503	SO:0001583	missense	8318			AF053074	CCDS13762.1, CCDS54499.1, CCDS54500.1	22q11.21	2013-01-17	2013-01-17	2010-03-24	ENSG00000093009	ENSG00000093009			1739	protein-coding gene	gene with protein product	"human CDC45"	603465	"CDC45 (cell division cycle 45, S.cerevisiae, homolog)-like", "CDC45 cell division cycle 45-like (S. cerevisiae)", "cell division cycle 45 homolog (S. cerevisiae)"	CDC45L2, CDC45L		9660782, 9724329, 17608804	Standard	NM_001178010		Approved		uc011aha.2	O75419	OTTHUMG00000150386	ENST00000407835.1:c.1205A>G	22.37:g.19496202A>G	ENSP00000385240:p.Asp402Gly		B4DDB4|B4DDU3|E9PDH7|O60856|Q20WK8|Q6UW54|Q9UP68	Missense_Mutation	SNP	ENST00000407835.1	37	CCDS13762.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.815394	0.90790	.	.	ENSG00000093009	ENST00000407835;ENST00000437685;ENST00000263201;ENST00000404724	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.63367	0.2505	M	0.89287	3.02	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	0.996;0.999;0.996;0.996;0.996	T	0.70988	-0.4722	10	0.87932	D	0	-29.6376	16.3009	0.82811	1.0:0.0:0.0:0.0	.	434;397;356;434;402	E9PDH7;B4E092;B4DDB4;B4DDU3;O75419	.;.;.;.;CDC45_HUMAN	G	402;434;402;356	ENSP00000385240:D402G;ENSP00000405726:D434G;ENSP00000263201:D402G;ENSP00000384978:D356G	ENSP00000263201:D402G	D	+	2	0	CDC45	17876202	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.850000	0.92190	2.246000	0.74042	0.533000	0.62120	GAC		0.602	CDC45-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000317903.1	NM_003504		G	19496202	A	G	19496202	3	3	731	1	0	0	0	0	1	0	0	0	3083	275	10	3	1355	3	CDC45	22	19496202	Missense_Mutation	SNP	A	TCGA-KN-8425-01A-11D-2310-10		19496202	31808364	69	41196											
CABIN1	23523	broad.mit.edu	37	22	24573681	24573681	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr22:24573681delT	ENST00000398319.2	+	36	6800	c.6415delT	c.(6415-6417)tccfs	p.S2139fs	CABIN1_ENST00000337989.7_Frame_Shift_Del_p.S509fs|CABIN1_ENST00000263119.5_Frame_Shift_Del_p.S2139fs|CABIN1_ENST00000405822.2_Frame_Shift_Del_p.S2060fs	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	2139	Required for interaction with calcineurin. {ECO:0000250}.				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						GGTCATCCCCTCCGCCGCCAC	0.662																																																0													72	59	63					22																	24573681		2203	4300	6503	SO:0001589	frameshift_variant	23523			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.6415delT	22.37:g.24573681delT	ENSP00000381364:p.Ser2139fs		G5E9F3|Q6PHY0|Q9Y460	Frame_Shift_Del	DEL	ENST00000398319.2	37	CCDS13823.1																																																																																				0.662	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		-	24573681	T	-	24573681	7	5	731	1	0	1	0	1	0	0	0	0	2530	1551	54	0	6553	0	CABIN1	22	24573681	Frame_Shift_Del	DEL	T	TCGA-KN-8425-01A-11D-2310-10	5077479	24573681	26730885	70	41197											
NUDT10	170685	mdanderson.org	37	X	51075901	51075901	+	Silent	SNP	G	G	A	rs2801627		TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chrX:51075901G>A	ENST00000376006.3	+	2	304	c.84G>A	c.(82-84)gaG>gaA	p.E28E	NUDT10_ENST00000356450.2_Silent_p.E28E	NM_153183.2	NP_694853.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	0					ADP catabolic process (GO:0046032)|IDP catabolic process (GO:0046709)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrial matrix (GO:0005759)	adenosine-diphosphatase activity (GO:0043262)|ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)	p.E28E(2)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					TCCGGAGCGAGCGCGAGGACG	0.687																																					NSCLC(90;1817 2035 37909 38249)											2	Substitution - coding silent(2)	upper_aerodigestive_tract(1)|prostate(1)											41	35	37					X																	51075901		2203	4300	6503	SO:0001819	synonymous_variant	170685			AF469196	CCDS35278.1	Xp11.22-p11.1	2014-05-20			ENSG00000122824	ENSG00000122824		"Nudix motif containing"	17621	protein-coding gene	gene with protein product		300527				12105228	Standard	NM_153183		Approved	DIPP3a, hDIPP3alpha	uc004dph.3	Q8NFP7	OTTHUMG00000021530	ENST00000376006.3:c.84G>A	X.37:g.51075901G>A			Q8NBN1|Q8NCB9|Q8NG25	Silent	SNP	ENST00000376006.3	37	CCDS35278.1																																																																																				0.687	NUDT10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056578.1	NM_153183		A	51075901	G	A	51075901	2	1	731	1	0	0	0	0	0	0	0	1	10728	962	34	2		2	NUDT10	23	51075901	Silent	SNP	G	TCGA-KN-8425-01A-11D-2310-10		51075901	104194659	71	41198											
SLC25A5	292	mdanderson.org	37	X	118603729	118603729	+	Missense_Mutation	SNP	G	G	A	rs143413528		TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chrX:118603729G>A	ENST00000317881.8	+	2	333	c.217G>A	c.(217-219)Ggt>Agt	p.G73S	SLC25A5-AS1_ENST00000446986.1_RNA|SLC25A5_ENST00000460013.1_3'UTR	NM_001152.4	NP_001143.2	P05141	ADT2_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5	73					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)	p.G73S(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(2)	12					Clodronate(DB00720)	CTTCTGGCGCGGTAACCTGGC	0.502																																																1	Substitution - Missense(1)	breast(1)											150	142	145					X																	118603729		2203	4300	6503	SO:0001583	missense	292			BC068199	CCDS14578.1	Xq24	2013-08-09			ENSG00000005022	ENSG00000005022		"Solute carriers"	10991	protein-coding gene	gene with protein product		300150		ANT2		2168878, 2829183	Standard	NM_001152		Approved	T2, 2F1, T3	uc004erh.4	P05141	OTTHUMG00000022715	ENST00000317881.8:c.217G>A	X.37:g.118603729G>A	ENSP00000360671:p.Gly73Ser		B2RCV1|O43350	Missense_Mutation	SNP	ENST00000317881.8	37	CCDS14578.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.569470	0.86439	.	.	ENSG00000005022	ENST00000317881	D	0.98164	-4.76	4.18	4.18	0.49190	Mitochondrial carrier domain (2);	0.048889	0.85682	D	0.000000	D	0.99471	0.9812	H	0.99732	4.735	0.09310	P	0.999999126608	D	0.76494	0.999	D	0.74674	0.984	D	0.97692	1.0179	9	0.87932	D	0	.	15.4079	0.74893	0.0:0.0:1.0:0.0	.	73	P05141	ADT2_HUMAN	S	73	ENSP00000360671:G73S	ENSP00000360671:G73S	G	+	1	0	SLC25A5	118487757	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.307000	0.96226	2.019000	0.59389	0.529000	0.55759	GGT		0.502	SLC25A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058952.2	NM_001152		A	118603729	G	A	118603729	3	1	731	1	0	0	0	0	1	0	0	0	14518	1116	39	1	223	1	SLC25A5	23	118603729	Missense_Mutation	SNP	G	TCGA-KN-8425-01A-11D-2310-10	67527828	118603729	36666831	72	41199											
PCDH11Y	83259	broad.mit.edu	37	Y	4967267	4967267	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chrY:4967267C>T	ENST00000333703.4	+	5	2128	c.1615C>T	c.(1615-1617)Cgt>Tgt	p.R539C	PCDH11Y_ENST00000215473.6_Missense_Mutation_p.R550C|PCDH11Y_ENST00000362095.5_Missense_Mutation_p.R550C	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	550	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)			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CCTGGATCGTCGTACAGGCAT	0.438																																																0																																										SO:0001583	missense	83259			AF332217	CCDS14776.1, CCDS14777.1, CCDS76066.1	Yp11.2	2010-01-26	2002-05-22	2002-05-24	ENSG00000099715	ENSG00000099715		"Cadherins / Protocadherins : Non-clustered"	15813	protein-coding gene	gene with protein product		400022	"protocadherin 22"	PCDH22		10644456, 11003707	Standard	NM_032971		Approved	PCDHY	uc004fqo.3	Q9BZA8	OTTHUMG00000035105	ENST00000333703.4:c.1615C>T	Y.37:g.4967267C>T	ENSP00000330552:p.Arg539Cys		Q70LR6|Q70LR8|Q70LS0|Q70LS1|Q70LS2|Q70LS3|Q70LS4|Q70LS5|Q8WY34|Q9BZA9|Q9H4E1	Missense_Mutation	SNP	ENST00000333703.4	37	CCDS14776.1																																																																																				0.438	PCDH11Y-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084979.2	NM_032973		T	4967267	C	T	4967267	3	4	731	1	0	0	0	0	1	0	0	0	11511	884	31	1	1690	1	PCDH11Y	24	4967267	Missense_Mutation	SNP	C	TCGA-KN-8425-01A-11D-2310-10		4967267	54406299	73	41200											
LOC440563	0	broad.mit.edu	37	1	13183837	13183837	+	IGR	SNP	G	G	A			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr1:13183837G>A								RP13-221M14.3 (19369 upstream) : PRAMEF26 (32518 downstream)																							AGTTCACGGAGTGAGGATCCA	0.463																																																0													64	48	53					1																	13183837		692	1591	2283	SO:0001628	intergenic_variant	0																															1.37:g.13183837G>A				Silent	SNP		37																																																																																				0	0.463									A	13183837	G	A	13183837	1	1	732	0	1	0	0	0	0	0	0	0	8881	1020	36	2		2	LOC440563	1	13183837	IGR	SNP	G	TCGA-KN-8426-01A-11D-2310-10		13183837	236066784	1	41201											
UBXN11	91544	mdanderson.org	37	1	26608849	26608849	+	Missense_Mutation	SNP	T	T	A	rs199707978		TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr1:26608849T>A	ENST00000374222.1	-	16	1968	c.1504A>T	c.(1504-1506)Agt>Tgt	p.S502C	UBXN11_ENST00000374217.2_Missense_Mutation_p.S469C|UBXN11_ENST00000314675.7_Missense_Mutation_p.S382C|UBXN11_ENST00000357089.4_Missense_Mutation_p.S469C|UBXN11_ENST00000374223.1_Missense_Mutation_p.S259C|UBXN11_ENST00000374221.3_Missense_Mutation_p.S502C			Q5T124	UBX11_HUMAN	UBX domain protein 11	502	3 X 8 AA tandem repeats of P-G-P-G-P-G-P- S.|Pro-rich.		Missing.			cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.G490_P515delGPGPSPGPGPGPSPGPGPGPSPCPGP(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						ggaccgggactggggccggga	0.731																																																1	Deletion - In frame(1)	ovary(1)											19	22	21					1																	26608849		1706	3905	5611	SO:0001583	missense	91544			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.1504A>T	1.37:g.26608849T>A	ENSP00000363339:p.Ser502Cys		D3DPK6|Q5T117|Q5T120|Q5T125|Q5T126|Q5T129|Q5T131|Q5T133|Q63HM6|Q71RB3|Q8IY27|Q8N1L6|Q8N9M4|Q8NA18|Q8NFE3|Q8NFE4|Q8NFE6	Missense_Mutation	SNP	ENST00000374222.1	37	CCDS41288.1	.	.	.	.	.	.	.	.	.	.	-	8.284	0.816212	0.16607	.	.	ENSG00000158062	ENST00000314675;ENST00000374223;ENST00000357089;ENST00000374221;ENST00000374222;ENST00000374217	T;T;T;T;T;T	0.19105	2.17;2.18;2.44;2.43;2.43;2.44	.	.	.	.	.	.	.	.	T	0.10594	0.0259	N	0.08118	0	0.09310	N	0.999993	.	.	.	.	.	.	T	0.30446	-0.9978	5	0.66056	D	0.02	.	.	.	.	.	469;382;502	Q5T124-2;Q5T124-3;Q5T124	.;.;UBX11_HUMAN	C	382;259;469;502;502;469	ENSP00000324721:S382C;ENSP00000363340:S259C;ENSP00000349601:S469C;ENSP00000363338:S502C;ENSP00000363339:S502C;ENSP00000363334:S469C	ENSP00000324721:S382C	S	-	1	0	UBXN11	26481436	0.000000	0.05858	0.168000	0.22838	0.175000	0.22909	-0.694000	0.05115	0.000000	0.14550	0.000000	0.15137	AGT		0.731	UBXN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000009500.1	NM_145345		A	26608849	T	A	26608849	3	1	732	1	0	0	0	0	1	0	0	0	16918	1580	55	5	62	5	UBXN11	1	26608849	Missense_Mutation	SNP	T	TCGA-KN-8426-01A-11D-2310-10	13425012	26608849	222641772	2	41202											
MED8	112950	broad.mit.edu	37	1	43850194	43850194	+	3'UTR	SNP	A	A	G			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr1:43850194A>G	ENST00000372457.4	-	0	1369				RP1-92O14.6_ENST00000436713.1_RNA|MED8_ENST00000290663.6_Missense_Mutation_p.I278T	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)				CCTTAGAGGGATAGCCAGAAT	0.517																																																0													52	51	51					1																	43850194		2203	4300	6503	SO:0001624	3_prime_UTR_variant	112950			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.*519T>C	1.37:g.43850194A>G			A9IZ91|A9IZ92|Q5JUY8|Q96FQ4	Missense_Mutation	SNP	ENST00000372457.4	37	CCDS487.2	.	.	.	.	.	.	.	.	.	.	A	9.522	1.108487	0.20714	.	.	ENSG00000159479	ENST00000290663	.	.	.	3.85	-0.45	0.12223	.	4.155170	0.00866	N	0.001964	T	0.32645	0.0836	.	.	.	0.09310	N	1	B	0.15473	0.013	B	0.14023	0.01	T	0.31943	-0.9925	8	0.87932	D	0	-12.3911	5.4248	0.16419	0.346:0.4871:0.0:0.1668	.	278	Q96G25-2	.	T	278	.	ENSP00000290663:I278T	I	-	2	0	MED8	43622781	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	0.012000	0.13287	-0.078000	0.12730	0.450000	0.29827	ATC		0.517	MED8-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318959.1	NM_052877		G	43850194	A	G	43850194	1	3	732	0	1	0	0	0	0	0	0	0	9455	333	12	3		3	MED8	1	43850194	3'UTR	SNP	A	TCGA-KN-8426-01A-11D-2310-10	17241345	43850194	205400427	3	41203											
SLC35D1	23169	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	67486077	67486077	+	Missense_Mutation	SNP	G	G	A	rs143745141		TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr1:67486077G>A	ENST00000235345.5	-	10	936	c.851C>T	c.(850-852)aCa>aTa	p.T284I	SLC35D1_ENST00000506472.2_Missense_Mutation_p.T205I	NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	284					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						TATTGTAGTTGTAAGAGCAGA	0.333																																																0													107	106	106					1																	67486077		2203	4300	6503	SO:0001583	missense	23169			AB044343	CCDS636.1	1p32-p31	2013-07-17	2013-07-17		ENSG00000116704	ENSG00000116704		"Solute carriers"	20800	protein-coding gene	gene with protein product		610804	"solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1"			11322953	Standard	NM_015139		Approved	UGTREL7, KIAA0260	uc001ddk.2	Q9NTN3	OTTHUMG00000009360	ENST00000235345.5:c.851C>T	1.37:g.67486077G>A	ENSP00000235345:p.Thr284Ile		A8K185|B7Z3X2|Q52LU5|Q92548	Missense_Mutation	SNP	ENST00000235345.5	37	CCDS636.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.618557	0.87460	.	.	ENSG00000116704	ENST00000235345;ENST00000506472	T;T	0.71579	-0.58;-0.58	6.16	6.16	0.99307	Domain of unknown function DUF250 (1);	0.000000	0.85682	D	0.000000	D	0.87341	0.6153	M	0.93808	3.46	0.80722	D	1	D;D	0.59357	0.985;0.983	D;P	0.66716	0.946;0.873	D	0.88851	0.3319	10	0.72032	D	0.01	-12.8739	19.6313	0.95704	0.0:0.0:1.0:0.0	.	205;284	B7Z3X2;Q9NTN3	.;S35D1_HUMAN	I	284;205	ENSP00000235345:T284I;ENSP00000445189:T205I	ENSP00000235345:T284I	T	-	2	0	SLC35D1	67258665	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.014000	0.88676	2.937000	0.99478	0.650000	0.86243	ACA		0.333	SLC35D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025948.1	NM_015139		A	67486077	G	A	67486077	3	1	732	1	0	0	0	0	1	0	0	0	14587	1377	48	2	228	2	SLC35D1	1	67486077	Missense_Mutation	SNP	G	TCGA-KN-8426-01A-11D-2310-10	23635883	67486077	181764544	4	41204											
CSDE1	7812	bcgsc.ca	37	1	115280678	115280683	+	In_Frame_Del	DEL	TTCAAA	TTCAAA	-			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	TTCAAA	TTCAAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr1:115280678_115280683delTTCAAA	ENST00000358528.4	-	4	636_641	c.210_215delTTTGAA	c.(208-216)gatttgaaa>gaa	p.70_72DLK>E	CSDE1_ENST00000438362.2_In_Frame_Del_p.116_118DLK>E|CSDE1_ENST00000339438.6_In_Frame_Del_p.70_72DLK>E|CSDE1_ENST00000534699.1_In_Frame_Del_p.70_72DLK>E|CSDE1_ENST00000369530.1_In_Frame_Del_p.116_118DLK>E|CSDE1_ENST00000530886.1_5'UTR|CSDE1_ENST00000261443.5_In_Frame_Del_p.70_72DLK>E	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	70	CSD 1.				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)	p.F71C(1)		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)		CGATGATACTTCAAATTCAACATCAT	0.345																																																1	Substitution - Missense(1)	endometrium(1)																																								SO:0001651	inframe_deletion	7812				CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307			29905	protein-coding gene	gene with protein product	"upstream of NRAS"	191510				2204029, 10048485	Standard	NM_007158		Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000358528.4:c.210_215delTTTGAA	1.37:g.115280678_115280683delTTCAAA	ENSP00000351329:p.Asp70_Lys72delinsGlu		A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	In_Frame_Del	DEL	ENST00000358528.4	37	CCDS30812.1																																																																																				0.345	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033397.1	NM_007158		-	115280683	TTCAAA	-	115280678	7	5	732	1	0	1	0	1	0	0	0	0	3931	1783	62	0	2249	0	CSDE1	1	115280678	In_Frame_Del	DEL	TTCAAA	TCGA-KN-8426-01A-11D-2310-10	47794601	115280678	133969943	5	41205											
SHC1	6464	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	1	154938971	154938971	+	Missense_Mutation	SNP	C	C	A	rs150380146		TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr1:154938971C>A	ENST00000368445.5	-	8	1220	c.1006G>T	c.(1006-1008)Gca>Tca	p.A336S	SHC1_ENST00000368450.1_Missense_Mutation_p.A226S|SHC1_ENST00000368449.4_Missense_Mutation_p.A107S|SHC1_ENST00000448116.2_Missense_Mutation_p.A336S|SHC1_ENST00000490667.1_5'Flank|SHC1_ENST00000368453.4_Missense_Mutation_p.A226S|PYGO2_ENST00000483463.1_5'Flank|SHC1_ENST00000606391.1_Missense_Mutation_p.A137S	NM_183001.4	NP_892113.4	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	336	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|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)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|Ras protein signal transduction (GO:0007265)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of growth (GO:0040008)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|Shc-EGFR complex (GO:0070435)	ephrin receptor binding (GO:0046875)|epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phospholipid binding (GO:0005543)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TCATCCCATGCTGAGCCATCA	0.567																																					NSCLC(4;32 234 1864 2492 3259 13747 17376)											0													19	18	18					1																	154938971		2201	4300	6501	SO:0001583	missense	6464			U73377	CCDS1076.1, CCDS30881.1, CCDS44233.1, CCDS44234.1	1q21	2013-02-14	2002-01-14		ENSG00000160691	ENSG00000160691		"SH2 domain containing"	10840	protein-coding gene	gene with protein product		600560	"SHC (Src homology 2 domain-containing) transforming protein 1"	SHC		1623525	Standard	NM_003029		Approved	p66	uc001ffw.3	P29353	OTTHUMG00000037295	ENST00000368445.5:c.1006G>T	1.37:g.154938971C>A	ENSP00000357430:p.Ala336Ser		B5BU19|D3DV78|O15290|Q5T180|Q5T183|Q5T184|Q5T185|Q5T186|Q8N4K5|Q96CL1	Missense_Mutation	SNP	ENST00000368445.5	37	CCDS30881.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.285670	0.59867	.	.	ENSG00000160691	ENST00000368445;ENST00000448116;ENST00000368449;ENST00000368453;ENST00000368450;ENST00000368443;ENST00000368441;ENST00000414115;ENST00000444179	T;T;T;T;T;T	0.47177	1.93;2.1;1.69;1.87;1.86;0.85	4.71	4.71	0.59529	Phosphotyrosine interaction domain (1);	0.000000	0.85682	D	0.000000	T	0.19805	0.0476	N	0.12961	0.28	0.80722	D	1	B;P;B	0.36110	0.402;0.537;0.125	B;B;B	0.32928	0.109;0.155;0.119	T	0.10177	-1.0641	10	0.44086	T	0.13	.	17.4551	0.87605	0.0:1.0:0.0:0.0	.	115;336;336	Q59HB0;P29353-6;P29353	.;.;SHC1_HUMAN	S	336;336;137;226;226;272;8;89;107	ENSP00000357430:A336S;ENSP00000401303:A336S;ENSP00000357434:A137S;ENSP00000357438:A226S;ENSP00000357435:A226S;ENSP00000404908:A89S	ENSP00000357426:A8S	A	-	1	0	SHC1	153205595	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.198000	0.77823	2.442000	0.82660	0.557000	0.71058	GCA		0.567	SHC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090781.2	NM_183001		A	154938971	C	A	154938971	3	1	732	1	0	0	0	0	1	0	0	0	14276	797	28	4	768	4	SHC1	1	154938971	Missense_Mutation	SNP	C	TCGA-KN-8426-01A-11D-2310-10	39658293	154938971	94311650	6	41206											
FMO3	2328	broad.mit.edu	37	1	171073025	171073025	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr1:171073025T>C	ENST00000367755.4	+	3	343	c.232T>C	c.(232-234)Ttc>Ctc	p.F78L	MIR1295A_ENST00000408463.1_RNA|FMO3_ENST00000538429.1_Intron|FMO3_ENST00000542847.1_Missense_Mutation_p.F58L|FMO3_ENST00000392085.2_Missense_Mutation_p.F78L	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	78					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)	TCCCGATGACTTCCCCAACTT	0.418																																																0													143	131	135					1																	171073025		2203	4300	6503	SO:0001583	missense	2328			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.232T>C	1.37:g.171073025T>C	ENSP00000356729:p.Phe78Leu		B2R816|Q14854|Q8N5N5	Missense_Mutation	SNP	ENST00000367755.4	37	CCDS1292.1	.	.	.	.	.	.	.	.	.	.	T	18.70	3.680637	0.68042	.	.	ENSG00000007933	ENST00000367755;ENST00000392085;ENST00000542847	T;T;T	0.57436	0.4;0.4;0.4	4.53	4.53	0.55603	.	0.226085	0.45126	D	0.000381	T	0.39253	0.1071	L	0.55103	1.725	0.46028	D	0.998824	B;B	0.22746	0.074;0.046	B;B	0.33690	0.139;0.168	T	0.43814	-0.9368	10	0.45353	T	0.12	-8.3909	13.84	0.63432	0.0:0.0:0.0:1.0	.	58;78	F5GZZ8;P31513	.;FMO3_HUMAN	L	78;78;58	ENSP00000356729:F78L;ENSP00000375935:F78L;ENSP00000444073:F58L	ENSP00000356729:F78L	F	+	1	0	FMO3	169339649	0.973000	0.33851	0.994000	0.49952	0.846000	0.48090	7.677000	0.84024	1.800000	0.52685	0.482000	0.46254	TTC		0.418	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086219.1	NM_006894		C	171073025	T	C	171073025	3	2	732	1	0	0	0	0	1	0	0	0	5958	1609	56	3	238	3	FMO3	1	171073025	Missense_Mutation	SNP	T	TCGA-KN-8426-01A-11D-2310-10	16134054	171073025	78177596	7	41207											
TMEM214	54867	ucsc.edu;bcgsc.ca	37	2	27263695	27263695	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr2:27263695C>T	ENST00000238788.9	+	17	2122	c.2060C>T	c.(2059-2061)tCc>tTc	p.S687F	TMEM214_ENST00000404032.3_Missense_Mutation_p.S642F	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	687					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						GCCCTGATATCCCAGCAGTAG	0.542																																																0													103	101	102					2																	27263695		2031	4193	6224	SO:0001583	missense	54867				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.2060C>T	2.37:g.27263695C>T	ENSP00000238788:p.Ser687Phe		A6NNF2|B3KUI9|B5MCD8|D6W547|Q53SW1|Q69YH4|Q8NC45|Q8WZ37|Q9NXH2	Missense_Mutation	SNP	ENST00000238788.9	37	CCDS42664.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.440509	0.83993	.	.	ENSG00000119777	ENST00000238788;ENST00000404032;ENST00000537397	T;T	0.54479	0.57;0.58	5.92	5.92	0.95590	.	0.138939	0.49916	D	0.000122	T	0.64994	0.2649	L	0.34521	1.04	0.43385	D	0.995492	D;P	0.89917	1.0;0.948	D;P	0.91635	0.999;0.733	T	0.66268	-0.5966	10	0.87932	D	0	-10.0855	18.0937	0.89481	0.0:1.0:0.0:0.0	.	642;687	Q6NUQ4-2;Q6NUQ4	.;TM214_HUMAN	F	687;642;427	ENSP00000238788:S687F;ENSP00000384417:S642F	ENSP00000238788:S687F	S	+	2	0	TMEM214	27117199	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	4.558000	0.60789	2.813000	0.96785	0.561000	0.74099	TCC		0.542	TMEM214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324748.1	NM_017727		T	27263695	C	T	27263695	3	4	732	1	0	0	0	0	1	0	0	0	16142	855	30	2	2126	2	TMEM214	2	27263695	Missense_Mutation	SNP	C	TCGA-KN-8426-01A-11D-2310-10		27263695	215935678	8	41208											
IRS1	3667	ucsc.edu	37	2	227659840	227659840	+	Silent	SNP	T	T	G			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr2:227659840T>G	ENST00000305123.5	-	1	4635	c.3615A>C	c.(3613-3615)ccA>ccC	p.P1205P	IRS1_ENST00000498335.1_5'UTR	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	1205	Pro-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)		GATGAGGGGGTGGGGGTGGGG	0.577																																																0																																										SO:0001819	synonymous_variant	3667				CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"Pleckstrin homology (PH) domain containing"	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.3615A>C	2.37:g.227659840T>G				Silent	SNP	ENST00000305123.5	37	CCDS2463.1																																																																																				0.577	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		G	227659840	T	G	227659840	2	3	732	1	0	0	0	0	0	0	0	1	7842	1683	59	5		5	IRS1	2	227659840	Silent	SNP	T	TCGA-KN-8426-01A-11D-2310-10	200396145	227659840	15539533	9	41209											
IQCA1	79781	bcgsc.ca	37	2	237402454	237402454	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr2:237402454A>G	ENST00000409907.3	-	3	687	c.413T>C	c.(412-414)cTt>cCt	p.L138P	IQCA1_ENST00000309507.5_Missense_Mutation_p.L134P|IQCA1_ENST00000431676.2_Missense_Mutation_p.L138P	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	138							ATP binding (GO:0005524)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TATTTGAGCAAGAATTTTCTC	0.313																																																0													116	105	108					2																	237402454		1809	4078	5887	SO:0001583	missense	79781			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.413T>C	2.37:g.237402454A>G	ENSP00000387347:p.Leu138Pro		B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	Missense_Mutation	SNP	ENST00000409907.3	37	CCDS46549.1	.	.	.	.	.	.	.	.	.	.	A	15.44	2.835275	0.50951	.	.	ENSG00000132321	ENST00000409907;ENST00000457693;ENST00000309507;ENST00000431676;ENST00000412437	D;D;D	0.95377	-3.57;-3.59;-3.69	5.05	5.05	0.67936	.	0.000000	0.50627	D	0.000103	D	0.97729	0.9255	M	0.86502	2.82	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.99;0.996;0.99	D	0.98162	1.0447	10	0.54805	T	0.06	.	13.6585	0.62352	1.0:0.0:0.0:0.0	.	138;145;138	E7EWQ0;E9PH78;Q86XH1	.;.;IQCA1_HUMAN	P	138;145;134;138;134	ENSP00000387347:L138P;ENSP00000311951:L134P;ENSP00000407213:L138P	ENSP00000254653:L138P	L	-	2	0	IQCA1	237067193	1.000000	0.71417	0.860000	0.33809	0.389000	0.30415	6.007000	0.70731	1.911000	0.55334	0.460000	0.39030	CTT		0.313	IQCA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000329266.1	NM_024726		G	237402454	A	G	237402454	3	3	732	1	0	0	0	0	1	0	0	0	7804	72	3	3	2123	3	IQCA1	2	237402454	Missense_Mutation	SNP	A	TCGA-KN-8426-01A-11D-2310-10	9742614	237402454	5796919	10	41210											
IGSF10	285313	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	3	151162874	151162874	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr3:151162874G>T	ENST00000282466.3	-	4	4894	c.4895C>A	c.(4894-4896)tCc>tAc	p.S1632Y		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	1632					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)			AAGGAGTTTGGAAGTTGTTGC	0.423																																																0													263	233	243					3																	151162874		2203	4300	6503	SO:0001583	missense	285313			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"Immunoglobulin superfamily / I-set domain containing"	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.4895C>A	3.37:g.151162874G>T	ENSP00000282466:p.Ser1632Tyr		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.659181	0.67586	.	.	ENSG00000152580	ENST00000282466;ENST00000544042	T	0.71341	-0.56	5.86	4.09	0.47781	.	0.299519	0.23924	N	0.043206	T	0.69522	0.3120	L	0.39898	1.24	0.09310	N	1	D	0.61080	0.989	P	0.55667	0.781	T	0.61362	-0.7078	10	0.72032	D	0.01	.	6.5333	0.22339	0.2142:0.1308:0.6549:0.0	.	1632	Q6WRI0	IGS10_HUMAN	Y	1632;259	ENSP00000282466:S1632Y	ENSP00000282466:S1632Y	S	-	2	0	IGSF10	152645564	0.216000	0.23585	0.008000	0.14137	0.637000	0.38172	3.111000	0.50360	0.842000	0.35045	-0.142000	0.14014	TCC		0.423	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		T	151162874	G	T	151162874	3	4	732	1	0	0	0	0	1	0	0	0	7599	1174	41	4	3036	4	IGSF10	3	151162874	Missense_Mutation	SNP	G	TCGA-KN-8426-01A-11D-2310-10		151162874	46859556	11	41211											
IGSF10	285313	broad.mit.edu	37	3	151165623	151165623	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr3:151165623T>C	ENST00000282466.3	-	4	2145	c.2146A>G	c.(2146-2148)Agt>Ggt	p.S716G		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	716					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)			TGCCTCTTACTTGTGCTTGAG	0.493																																																0													84	68	74					3																	151165623		2203	4300	6503	SO:0001583	missense	285313			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"Immunoglobulin superfamily / I-set domain containing"	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.2146A>G	3.37:g.151165623T>C	ENSP00000282466:p.Ser716Gly		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	T	10.49	1.363613	0.24684	.	.	ENSG00000152580	ENST00000282466	T	0.68765	-0.35	4.73	-0.335	0.12662	.	0.460607	0.18317	N	0.144904	T	0.46073	0.1374	L	0.32530	0.975	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.19321	-1.0309	10	0.19147	T	0.46	.	5.3033	0.15790	0.0:0.2302:0.1453:0.6245	.	716	Q6WRI0	IGS10_HUMAN	G	716	ENSP00000282466:S716G	ENSP00000282466:S716G	S	-	1	0	IGSF10	152648313	0.003000	0.15002	0.000000	0.03702	0.044000	0.14063	0.121000	0.15667	-0.197000	0.10350	-0.353000	0.07706	AGT		0.493	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		C	151165623	T	C	151165623	3	2	732	1	0	0	0	0	1	0	0	0	7599	1609	56	3	5785	3	IGSF10	3	151165623	Missense_Mutation	SNP	T	TCGA-KN-8426-01A-11D-2310-10	2749	151165623	46856807	12	41212											
GFM1	85476	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	3	158363431	158363431	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr3:158363431C>T	ENST00000486715.1	+	2	452	c.95C>T	c.(94-96)gCc>gTc	p.A32V	GFM1_ENST00000264263.5_Missense_Mutation_p.A32V|GFM1_ENST00000478576.1_Missense_Mutation_p.A32V	NM_024996.5	NP_079272.4			G elongation factor, mitochondrial 1											breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			AATTGGAAGGCCTGCCGATGG	0.373																																																0													79	80	79					3																	158363431		2203	4300	6503	SO:0001583	missense	85476			AF309777	CCDS33885.1	3q25	2008-02-05			ENSG00000168827	ENSG00000168827			13780	protein-coding gene	gene with protein product		606639	"G translation elongation factor, mitochondrial"			11374907, 11735030	Standard	NM_024996		Approved	EFGM, GFM, EGF1	uc003fce.3	Q96RP9	OTTHUMG00000158804	ENST00000486715.1:c.95C>T	3.37:g.158363431C>T	ENSP00000419038:p.Ala32Val			Missense_Mutation	SNP	ENST00000486715.1	37	CCDS33885.1	.	.	.	.	.	.	.	.	.	.	C	9.663	1.144578	0.21288	.	.	ENSG00000168827	ENST00000486715;ENST00000478576;ENST00000264263	T;T;T	0.72394	-0.07;-0.65;-0.07	5.43	-2.17	0.07059	.	1.214710	0.05439	N	0.547337	T	0.48205	0.1487	N	0.08118	0	0.36592	D	0.874181	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.22487	-1.0215	10	0.30854	T	0.27	18.8337	8.1196	0.30963	0.0:0.4113:0.2638:0.3248	.	32;32	Q96RP9;C9IZ01	EFGM_HUMAN;.	V	32	ENSP00000419038:A32V;ENSP00000418755:A32V;ENSP00000264263:A32V	ENSP00000264263:A32V	A	+	2	0	GFM1	159846125	.	.	0.008000	0.14137	0.654000	0.38779	.	.	-0.366000	0.08064	0.655000	0.94253	GCC		0.373	GFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352271.1	NM_024996		T	158363431	C	T	158363431	3	4	732	1	0	0	0	0	1	0	0	0	6343	739	26	2	101	2	GFM1	3	158363431	Missense_Mutation	SNP	C	TCGA-KN-8426-01A-11D-2310-10	7197808	158363431	39658999	13	41213											
HTR3E	285242	ucsc.edu	37	3	183818222	183818222	+	Intron	SNP	G	G	A	rs5855015|rs397897677	byFrequency	TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr3:183818222G>A	ENST00000415389.2	+	2	533				HTR3E_ENST00000440596.2_Missense_Mutation_p.R21K|HTR3E_ENST00000425359.2_Intron|HTR3E_ENST00000436361.2_Missense_Mutation_p.R21K|HTR3E_ENST00000335304.2_Missense_Mutation_p.R21K|HTR3E-AS1_ENST00000431427.1_RNA	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic						ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	CTCTCATATAGGGAGCACAGG	0.527																																					Melanoma(7;227 727 6634 44770)											0													157	143	147					3																	183818222		2202	4293	6495	SO:0001627	intron_variant	285242			AY159813	CCDS3251.1, CCDS58868.1, CCDS58869.1, CCDS58870.1, CCDS58871.1	3q27	2012-05-22	2012-02-03		ENSG00000186038	ENSG00000186038		"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	24005	protein-coding gene	gene with protein product		610123	"5-hydroxytryptamine (serotonin) receptor 3, family member E"			12801637, 15157181	Standard	NM_001256613		Approved		uc010hxr.3	A5X5Y0	OTTHUMG00000156857	ENST00000415389.2:c.68-51G>A	3.37:g.183818222G>A			A8IKD7|E9PGF1|Q495G1|Q495G3|Q6V706|Q6V707|Q7Z6B2	Missense_Mutation	SNP	ENST00000415389.2	37	CCDS58868.1	.	.	.	.	.	.	.	.	.	.	g	11.61	1.689815	0.29962	.	.	ENSG00000186038	ENST00000335304;ENST00000436361;ENST00000440596	T;T;T	0.78481	-1.11;-1.14;-1.18	3.73	0.45	0.16624	.	10.888600	0.00166	N	0.000004	T	0.62466	0.2430	L	0.29908	0.895	0.09310	N	1	B;B;B	0.11235	0.002;0.004;0.004	B;B;B	0.09377	0.002;0.004;0.004	T	0.50583	-0.8811	10	0.02654	T	1	.	5.0949	0.14727	0.2343:0.1729:0.5928:0.0	.	21;21;21	E9PGF1;A5X5Y0-4;A5X5Y0-3	.;.;.	K	21	ENSP00000335511:R21K;ENSP00000395833:R21K;ENSP00000406050:R21K	ENSP00000335511:R21K	R	+	2	0	HTR3E	185300916	0.001000	0.12720	0.001000	0.08648	0.011000	0.07611	0.342000	0.19926	0.312000	0.23038	-0.150000	0.13652	AGG		0.527	HTR3E-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346284.1	NM_182589		A	183818222	G	A	183818222	1	1	732	0	1	0	0	0	0	0	0	0	7450	1000	35	2		2	HTR3E	3	183818222	Intron	SNP	G	TCGA-KN-8426-01A-11D-2310-10	25454791	183818222	14204208	14	41214											
PAK2	5062	mdanderson.org	37	3	196509522	196509522	+	Missense_Mutation	SNP	C	C	G	rs67093638		TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr3:196509522C>G	ENST00000327134.3	+	2	327	c.5C>G	c.(4-6)tCt>tGt	p.S2C	RNU6-42P_ENST00000384165.1_RNA	NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	2					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:2001271)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of defense response to virus by virus (GO:0050690)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activator activity (GO:0030296)	p.S2C(2)		breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		TGAATCATGTCTGATAACGGA	0.408																																																2	Substitution - Missense(2)	prostate(2)											81	87	85					3																	196509522		2203	4300	6503	SO:0001583	missense	5062			U24153	CCDS3321.1	3q29	2008-06-17	2008-06-17			ENSG00000180370	2.7.11.1		8591	protein-coding gene	gene with protein product	"S6/H4 kinase"	605022	"p21 (CDKN1A)-activated kinase 2"			7744004, 7618083	Standard	NM_002577		Approved	PAK65, PAKgamma	uc003fwy.4	Q13177		ENST00000327134.3:c.5C>G	3.37:g.196509522C>G	ENSP00000314067:p.Ser2Cys		Q13154|Q6ISC3	Missense_Mutation	SNP	ENST00000327134.3	37	CCDS3321.1	42	0.019230769230769232	6	0.012195121951219513	0	0.0	7	0.012237762237762238	29	0.03825857519788918	C	14.90	2.672409	0.47781	.	.	ENSG00000180370	ENST00000327134	T	0.70631	-0.5	5.21	5.21	0.72293	.	0.055816	0.64402	D	0.000001	T	0.30417	0.0764	N	0.25426	0.745	0.54753	D	0.999985	B	0.15141	0.012	B	0.20577	0.03	T	0.51284	-0.8725	10	0.62326	D	0.03	.	18.756	0.91833	0.0:1.0:0.0:0.0	.	2	Q13177	PAK2_HUMAN	C	2	ENSP00000314067:S2C	ENSP00000314067:S2C	S	+	2	0	PAK2	197993919	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.961000	0.49168	2.456000	0.83038	0.655000	0.94253	TCT		0.408	PAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340548.1	NM_002577		G	196509522	C	G	196509522	3	3	732	1	0	0	0	0	1	0	0	0	11403	913	32	4	7	4	PAK2	3	196509522	Missense_Mutation	SNP	C	TCGA-KN-8426-01A-11D-2310-10	12691300	196509522	1512908	15	41215											
ANK2	287	broad.mit.edu	37	4	114278579	114278579	+	Silent	SNP	T	T	C			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr4:114278579T>C	ENST00000357077.4	+	38	8858	c.8805T>C	c.(8803-8805)tcT>tcC	p.S2935S	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Silent_p.S2902S|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2935					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)		CTTCCCAATCTTTTTTCTCTA	0.398																																																0													170	178	175					4																	114278579		2203	4300	6503	SO:0001819	synonymous_variant	287			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.8805T>C	4.37:g.114278579T>C			Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	CCDS3702.1																																																																																				0.398	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		C	114278579	T	C	114278579	2	2	732	1	0	0	0	0	0	0	0	1	621	1596	56	3		3	ANK2	4	114278579	Silent	SNP	T	TCGA-KN-8426-01A-11D-2310-10		114278579	76875697	16	41216											
SPOCK3	50859	broad.mit.edu;mdanderson.org;bcgsc.ca	37	4	167656152	167656152	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr4:167656152C>T	ENST00000357154.3	-	12	1368	c.1231G>A	c.(1231-1233)Gat>Aat	p.D411N	SPOCK3_ENST00000510741.1_Missense_Mutation_p.D368N|SPOCK3_ENST00000506886.1_Missense_Mutation_p.D411N|SPOCK3_ENST00000502330.1_Missense_Mutation_p.D411N|SPOCK3_ENST00000534949.1_Missense_Mutation_p.D315N|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000541637.1_Missense_Mutation_p.D313N|SPOCK3_ENST00000535728.1_Missense_Mutation_p.D279N|SPOCK3_ENST00000357545.4_Missense_Mutation_p.D408N|SPOCK3_ENST00000511531.1_Missense_Mutation_p.D411N|SPOCK3_ENST00000504953.1_Missense_Mutation_p.D408N|SPOCK3_ENST00000421836.2_Missense_Mutation_p.D360N|SPOCK3_ENST00000512681.1_Missense_Mutation_p.D313N|SPOCK3_ENST00000511269.1_Missense_Mutation_p.D408N|SPOCK3_ENST00000541354.1_Missense_Mutation_p.D291N	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	411	Asp-rich.				negative regulation of endopeptidase activity (GO:0010951)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|metalloendopeptidase inhibitor activity (GO:0008191)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		tcatcttcatcattcataata	0.358																																																0													186	176	179					4																	167656152		2203	4299	6502	SO:0001583	missense	50859			AJ001454	CCDS34095.1, CCDS54817.1, CCDS56343.1, CCDS56344.1, CCDS56346.1, CCDS56347.1, CCDS58931.1, CCDS75207.1	4q32.3	2011-10-10			ENSG00000196104	ENSG00000196104			13565	protein-coding gene	gene with protein product		607989				11751414	Standard	NM_001204352		Approved	testican-3	uc003iri.1	Q9BQ16	OTTHUMG00000161190	ENST00000357154.3:c.1231G>A	4.37:g.167656152C>T	ENSP00000349677:p.Asp411Asn		B2R7M7|B3KR67|B4DGK5|B4DHB4|B4DHV3|B4DI46|B4DJY3|E7EP61|F5H099|O75705|Q6UW53|Q96Q26	Missense_Mutation	SNP	ENST00000357154.3	37	CCDS54817.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.804648	0.31961	.	.	ENSG00000196104	ENST00000357154;ENST00000357545;ENST00000504953;ENST00000506886;ENST00000511531;ENST00000502330;ENST00000510741;ENST00000541354;ENST00000512681;ENST00000511269;ENST00000535728;ENST00000421836;ENST00000541637;ENST00000534949	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19;-1.19;-1.19;-1.19;-1.19;-1.19;-1.19;-1.19;-1.19;-1.19;-1.19	5.05	5.05	0.67936	.	0.497022	0.20929	N	0.083132	T	0.70842	0.3270	L	0.27053	0.805	0.54753	D	0.999981	B;B;B;B;B;B;B	0.26635	0.155;0.081;0.155;0.155;0.048;0.081;0.048	B;B;B;B;B;B;B	0.28916	0.081;0.064;0.096;0.06;0.043;0.093;0.043	T	0.70189	-0.4940	10	0.66056	D	0.02	-34.0193	18.3629	0.90380	0.0:1.0:0.0:0.0	.	313;315;360;420;368;408;411	B4DGK5;F5H099;B4DHB4;B4DFW5;E7EP61;Q9BQ16-1;Q9BQ16	.;.;.;.;.;.;TICN3_HUMAN	N	411;408;408;411;411;411;368;291;313;408;279;360;313;315	ENSP00000349677:D411N;ENSP00000350153:D408N;ENSP00000425570:D408N;ENSP00000420920:D411N;ENSP00000423421:D411N;ENSP00000423606:D411N;ENSP00000426716:D368N;ENSP00000444789:D291N;ENSP00000426318:D313N;ENSP00000425502:D408N;ENSP00000441396:D279N;ENSP00000411344:D360N;ENSP00000445430:D313N;ENSP00000438142:D315N	ENSP00000349677:D411N	D	-	1	0	SPOCK3	167892727	1.000000	0.71417	0.960000	0.40013	0.047000	0.14425	3.662000	0.54510	2.504000	0.84457	0.637000	0.83480	GAT		0.358	SPOCK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364091.1			T	167656152	C	T	167656152	3	4	732	1	0	0	0	0	1	0	0	0	15086	826	29	2	83	2	SPOCK3	4	167656152	Missense_Mutation	SNP	C	TCGA-KN-8426-01A-11D-2310-10	53377573	167656152	23498124	17	41217											
CBR4	84869	bcgsc.ca	37	4	169931136	169931136	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr4:169931136G>T	ENST00000306193.3	-	1	273	c.105C>A	c.(103-105)aaC>aaA	p.N35K	RP11-483A20.3_ENST00000506933.1_RNA|CBR4_ENST00000504480.1_Missense_Mutation_p.N35K	NM_032783.4	NP_116172.2	Q8N4T8	CBR4_HUMAN	carbonyl reductase 4	35					daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|fatty acid biosynthetic process (GO:0006633)|protein homotetramerization (GO:0051289)	mitochondrial matrix (GO:0005759)	NAD(P)H dehydrogenase (quinone) activity (GO:0003955)|NADPH binding (GO:0070402)|NADPH dehydrogenase (quinone) activity (GO:0008753)|quinone binding (GO:0048038)			kidney(1)|large_intestine(2)|lung(2)	5		Prostate(90;0.00263)|Renal(120;0.0183)|Melanoma(52;0.123)		GBM - Glioblastoma multiforme(119;0.0321)		CCCCTTCCAGGTTTCTGGCAA	0.587											OREG0016397	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													22	26	25					4																	169931136		2203	4300	6503	SO:0001583	missense	84869			BC021973	CCDS3812.1	4q32.3	2013-10-11			ENSG00000145439	ENSG00000145439	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	25891	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 45C, member 1"					19027726	Standard	NM_032783		Approved	FLJ14431, SDR45C1	uc003iry.3	Q8N4T8	OTTHUMG00000161025	ENST00000306193.3:c.105C>A	4.37:g.169931136G>T	ENSP00000303525:p.Asn35Lys	1881	Q8WTW8|Q96K93	Missense_Mutation	SNP	ENST00000306193.3	37	CCDS3812.1	.	.	.	.	.	.	.	.	.	.	G	12.29	1.894508	0.33442	.	.	ENSG00000145439	ENST00000306193;ENST00000504480;ENST00000504561	T;D;D	0.90385	1.82;-2.66;-2.66	5.22	-3.19	0.05171	NAD(P)-binding domain (1);	0.351943	0.31834	N	0.006988	D	0.82866	0.5130	N	0.25286	0.73	0.48135	D	0.999593	P	0.36027	0.533	B	0.41374	0.355	T	0.72047	-0.4408	9	.	.	.	.	13.5656	0.61815	0.4344:0.0:0.5656:0.0	.	35	Q8N4T8	CBR4_HUMAN	K	35;35;32	ENSP00000303525:N35K;ENSP00000427615:N35K;ENSP00000423128:N32K	.	N	-	3	2	CBR4	170167711	0.330000	0.24705	0.949000	0.38748	0.058000	0.15608	0.264000	0.18497	-0.445000	0.07159	0.491000	0.48974	AAC		0.587	CBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363441.2	NM_032783		T	169931136	G	T	169931136	3	4	732	1	0	0	0	0	1	0	0	0	2712	1252	44	4	628	4	CBR4	4	169931136	Missense_Mutation	SNP	G	TCGA-KN-8426-01A-11D-2310-10	2274984	169931136	21223140	18	41218											
TRIO	7204	ucsc.edu	37	5	14369520	14369520	+	Missense_Mutation	SNP	A	A	G	rs372172691		TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr5:14369520A>G	ENST00000344204.4	+	18	3128	c.3104A>G	c.(3103-3105)aAg>aGg	p.K1035R	TRIO_ENST00000537187.1_Missense_Mutation_p.K1035R|TRIO_ENST00000509967.2_Missense_Mutation_p.K986R	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1035					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)					CAGGAGTACAAGAGAGAAGAA	0.582																																																0								A	ARG/LYS	1,4405	2.1+/-5.4	0,1,2202	81	86	84		3104	5.8	1	5		84	0,8600		0,0,4300	no	missense	TRIO	NM_007118.2	26	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	probably-damaging	1035/3098	14369520	1,13005	2203	4300	6503	SO:0001583	missense	7204			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing"	12303	protein-coding gene	gene with protein product		601893	"triple functional domain (PTPRF interacting)"			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.3104A>G	5.37:g.14369520A>G	ENSP00000339299:p.Lys1035Arg		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	A	10.99	1.508381	0.27036	2.27E-4	0.0	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	T;T;T	0.61980	0.06;0.08;0.65	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.53546	0.1803	N	0.02697	-0.525	0.58432	D	0.999999	B;B;D	0.69078	0.007;0.012;0.997	B;B;D	0.73380	0.005;0.028;0.98	T	0.55068	-0.8198	10	0.02654	T	1	.	16.2147	0.82198	1.0:0.0:0.0:0.0	.	986;1035;1035	F5H228;O75962-5;O75962	.;.;TRIO_HUMAN	R	1035;1035;986;722	ENSP00000339299:K1035R;ENSP00000446348:K1035R;ENSP00000445592:K986R	ENSP00000339299:K1035R	K	+	2	0	TRIO	14422520	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	5.348000	0.66004	2.231000	0.72958	0.460000	0.39030	AAG		0.582	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		G	14369520	A	G	14369520	3	3	732	1	0	0	0	0	1	0	0	0	16557	72	3	3	3174	3	TRIO	5	14369520	Missense_Mutation	SNP	A	TCGA-KN-8426-01A-11D-2310-10		14369520	166545740	19	41219											
ADAMTS6	11174	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	5	64468715	64468715	+	5'UTR	SNP	G	G	A			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr5:64468715G>A	ENST00000314351.5	-	0	690							Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6							proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R1011C(1)|p.R182C(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		AAACTGCAGCGGATGCGGACA	0.552																																																2	Substitution - Missense(2)	breast(2)											135	119	124					5																	64468715		2203	4300	6503	SO:0001623	5_prime_UTR_variant	11174			AF140674	CCDS3983.2	5q13	2008-07-18	2005-08-19		ENSG00000049192	ENSG00000049192		"ADAM metallopeptidases with thrombospondin type 1 motif"	222	protein-coding gene	gene with protein product	"a disintegrin and metalloproteinase with thrombospondin motifs 6"	605008	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 6"			10464288	Standard	NM_197941		Approved	ADAM-TS6	uc003jtp.3	Q9UKP5	OTTHUMG00000074079	ENST00000314351.5:c.-632C>T	5.37:g.64468715G>A			Q59EX6|Q5IR87|Q5IR88|Q5IR89|Q68DL1	Missense_Mutation	SNP	ENST00000314351.5	37		.	.	.	.	.	.	.	.	.	.	G	27.4	4.828316	0.90955	.	.	ENSG00000049192	ENST00000381055	T	0.61158	0.13	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.80518	0.4638	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.82018	-0.0665	10	0.54805	T	0.06	.	19.838	0.96666	0.0:0.0:1.0:0.0	.	1011	Q9UKP5	ATS6_HUMAN	C	1011	ENSP00000370443:R1011C	ENSP00000370443:R1011C	R	-	1	0	ADAMTS6	64504471	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.476000	0.97823	2.692000	0.91855	0.650000	0.86243	CGC		0.552	ADAMTS6-006	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000157334.2	NM_197941		A	64468715	G	A	64468715	1	1	732	0	1	0	0	0	0	0	0	0	270	1116	39	1		1	ADAMTS6	5	64468715	5'UTR	SNP	G	TCGA-KN-8426-01A-11D-2310-10	50099195	64468715	116446545	20	41220											
AGGF1	55109	hgsc.bcm.edu;ucsc.edu	37	5	76326664	76326664	+	Silent	SNP	C	C	T			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr5:76326664C>T	ENST00000312916.7	+	1	455	c.73C>T	c.(73-75)Cta>Tta	p.L25L	AGGF1_ENST00000503538.1_Intron|AGGF1_ENST00000506806.1_Silent_p.L25L	NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	25					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|RNA processing (GO:0006396)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	nucleic acid binding (GO:0003676)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		GCTGGCCCAGCTAAGGCGGAA	0.692																																																0													34	33	33					5																	76326664		2202	4298	6500	SO:0001819	synonymous_variant	55109			AK001145	CCDS4035.1	5q13.3	2013-10-11			ENSG00000164252	ENSG00000164252		"G patch domain containing"	24684	protein-coding gene	gene with protein product		608464				18564129, 17103452	Standard	NM_018046		Approved	VG5Q, HSU84971, FLJ10283, GPATC7, GPATCH7	uc003ket.3	Q8N302	OTTHUMG00000102132	ENST00000312916.7:c.73C>T	5.37:g.76326664C>T			O00581|Q53YS3|Q9BU84|Q9NW66	Silent	SNP	ENST00000312916.7	37	CCDS4035.1																																																																																				0.692	AGGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219971.2	NM_018046		T	76326664	C	T	76326664	2	4	732	1	0	0	0	0	0	0	0	1	382	796	28	2		2	AGGF1	5	76326664	Silent	SNP	C	TCGA-KN-8426-01A-11D-2310-10	11857949	76326664	104588596	21	41221											
DTWD2	285605	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	5	118324112	118324112	+	Missense_Mutation	SNP	C	C	A			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr5:118324112C>A	ENST00000510708.1	-	1	128	c.95G>T	c.(94-96)cGg>cTg	p.R32L	DTWD2_ENST00000304058.4_5'Flank|DTWD2_ENST00000515439.3_Missense_Mutation_p.R32L	NM_173666.2	NP_775937.1	Q8NBA8	DTWD2_HUMAN	DTW domain containing 2	32										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)	13		all_epithelial(76;0.0982)|Prostate(80;0.121)		OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939)		GCCGCCCTCCCGCCGCTCCTT	0.726											OREG0016736	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													9	12	11					5																	118324112		2120	4225	6345	SO:0001583	missense	285605				CCDS34216.1	5q23.1	2008-02-05			ENSG00000169570	ENSG00000169570			19334	protein-coding gene	gene with protein product							Standard	NM_173666		Approved	FLJ33977	uc003ksa.3	Q8NBA8	OTTHUMG00000162956	ENST00000510708.1:c.95G>T	5.37:g.118324112C>A	ENSP00000425048:p.Arg32Leu	1487		Missense_Mutation	SNP	ENST00000510708.1	37	CCDS34216.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.266785	0.40095	.	.	ENSG00000169570	ENST00000510708;ENST00000515439	.	.	.	5.56	-2.1	0.07210	.	1.581510	0.03198	N	0.174314	T	0.28333	0.0700	N	0.24115	0.695	0.09310	N	1	B	0.28636	0.218	B	0.23275	0.045	T	0.16748	-1.0392	9	0.54805	T	0.06	-9.157	6.7753	0.23617	0.0:0.4438:0.2112:0.345	.	32	Q8NBA8	DTWD2_HUMAN	L	32	.	ENSP00000425016:R32L	R	-	2	0	DTWD2	118352011	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.879000	0.01629	-1.251000	0.02494	-1.814000	0.00607	CGG		0.726	DTWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371167.2	NM_173666		A	118324112	C	A	118324112	3	1	732	1	0	0	0	0	1	0	0	0	4794	652	23	4	825	4	DTWD2	5	118324112	Missense_Mutation	SNP	C	TCGA-KN-8426-01A-11D-2310-10	41997448	118324112	62591148	22	41222											
MYOT	9499	broad.mit.edu	37	5	137221866	137221866	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr5:137221866A>G	ENST00000239926.4	+	8	1528	c.1154A>G	c.(1153-1155)aAt>aGt	p.N385S	MYOT_ENST00000515645.1_Missense_Mutation_p.N270S|RP11-381K20.2_ENST00000508281.2_RNA|MYOT_ENST00000421631.2_Missense_Mutation_p.N201S|RP11-381K20.2_ENST00000514616.1_RNA	NM_006790.2	NP_006781	Q9UBF9	MYOTI_HUMAN	myotilin	385	Ig-like C2-type 2.|Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.				muscle contraction (GO:0006936)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	structural constituent of muscle (GO:0008307)			cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TGGAAAAGAAATAATGAAATG	0.348																																																0													79	84	82					5																	137221866		2203	4300	6503	SO:0001583	missense	9499			AF133820	CCDS4194.1, CCDS47268.1, CCDS75309.1	5q31.2	2014-09-17	2005-09-07	2005-09-07	ENSG00000120729	ENSG00000120729		"Immunoglobulin superfamily / I-set domain containing"	12399	protein-coding gene	gene with protein product		604103	"titin immunoglobulin domain protein (myotilin)", "limb-girdle muscular dystrophy 1A (autosomal dominant)"	TTID, LGMD1A, LGMD1		10486214, 10369880	Standard	NM_006790		Approved		uc003lbv.3	Q9UBF9	OTTHUMG00000129154	ENST00000239926.4:c.1154A>G	5.37:g.137221866A>G	ENSP00000239926:p.Asn385Ser		A0A4R6|B4DT79	Missense_Mutation	SNP	ENST00000239926.4	37	CCDS4194.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.080318	0.76528	.	.	ENSG00000120729	ENST00000239926;ENST00000421631;ENST00000515645	T;T;T	0.50548	0.74;0.74;0.74	5.18	3.99	0.46301	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.152498	0.43416	N	0.000575	T	0.52500	0.1738	M	0.69823	2.125	0.54753	D	0.999983	P	0.52170	0.951	P	0.47134	0.539	T	0.57476	-0.7805	10	0.72032	D	0.01	.	11.4831	0.50337	0.8651:0.0:0.0:0.1349	.	385	Q9UBF9	MYOTI_HUMAN	S	385;201;270	ENSP00000239926:N385S;ENSP00000391185:N201S;ENSP00000426281:N270S	ENSP00000239926:N385S	N	+	2	0	MYOT	137249765	1.000000	0.71417	0.991000	0.47740	0.998000	0.95712	8.873000	0.92357	0.886000	0.36113	0.482000	0.46254	AAT		0.348	MYOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251219.2	NM_006790		G	137221866	A	G	137221866	3	3	732	1	0	0	0	0	1	0	0	0	10096	101	4	3	1180	3	MYOT	5	137221866	Missense_Mutation	SNP	A	TCGA-KN-8426-01A-11D-2310-10	18897754	137221866	43693394	23	41223											
PSD2	84249	broad.mit.edu	37	5	139189307	139189307	+	Silent	SNP	G	G	A	rs146390261	byFrequency	TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr5:139189307G>A	ENST00000274710.3	+	2	487	c.282G>A	c.(280-282)gcG>gcA	p.A94A		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	94					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)			AAGATTCAGCGGAGTCCAGGC	0.617																																																0								G		0,4406		0,0,2203	88	93	92		282	-2.4	0	5	dbSNP_134	92	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	PSD2	NM_032289.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		94/772	139189307	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	84249			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.282G>A	5.37:g.139189307G>A			D3DQD3|Q8N3J8	Silent	SNP	ENST00000274710.3	37	CCDS4216.1																																																																																				0.617	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251339.1	NM_032289		A	139189307	G	A	139189307	2	1	732	1	0	0	0	0	0	0	0	1	12652	1103	39	1		1	PSD2	5	139189307	Silent	SNP	G	TCGA-KN-8426-01A-11D-2310-10	1967441	139189307	41725953	24	41224											
PCDHA11	56138	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	5	140250883	140250883	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr5:140250883C>T	ENST00000398640.2	+	1	2195	c.2195C>T	c.(2194-2196)gCg>gTg	p.A732V	PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	732					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)			GGCGCGTGCGCGCCGGGGAAG	0.677																																																0													30	32	31					5																	140250883		2202	4298	6500	SO:0001583	missense	56138			AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"Cadherins / Protocadherins : Clustered"	8665	other	complex locus constituent	"KIAA0345-like 3", "ortholog of mouse CNR7"	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.2195C>T	5.37:g.140250883C>T	ENSP00000381636:p.Ala732Val		B2RN58|O75279	Missense_Mutation	SNP	ENST00000398640.2	37	CCDS47284.1	.	.	.	.	.	.	.	.	.	.	T	6.697	0.497309	0.12762	.	.	ENSG00000249158	ENST00000398640	T	0.12672	2.66	4.6	-1.85	0.07784	.	.	.	.	.	T	0.09423	0.0232	L	0.43152	1.355	0.09310	N	1	B;B	0.12013	0.005;0.002	B;B	0.06405	0.002;0.002	T	0.34229	-0.9837	9	0.37606	T	0.19	.	2.5779	0.04811	0.1352:0.3466:0.2825:0.2358	.	732;732	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	V	732	ENSP00000381636:A732V	ENSP00000381636:A732V	A	+	2	0	PCDHA11	140231067	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.005000	0.13129	-0.915000	0.03823	-1.968000	0.00466	GCG		0.677	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		T	140250883	C	T	140250883	3	4	732	1	0	0	0	0	1	0	0	0	11523	768	27	1	2197	1	PCDHA11	5	140250883	Missense_Mutation	SNP	C	TCGA-KN-8426-01A-11D-2310-10	1061576	140250883	40664377	25	41225											
TCOF1	6949	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	5	149773014	149773014	+	Missense_Mutation	SNP	C	C	G			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr5:149773014C>G	ENST00000504761.2	+	23	3680	c.3680C>G	c.(3679-3681)tCc>tGc	p.S1227C	TCOF1_ENST00000323668.7_Missense_Mutation_p.S1150C|TCOF1_ENST00000377797.3_Missense_Mutation_p.S1228C|TCOF1_ENST00000513346.1_Missense_Mutation_p.S1227C|TCOF1_ENST00000439160.2_Missense_Mutation_p.S1190C|TCOF1_ENST00000445265.2_Missense_Mutation_p.S1151C|TCOF1_ENST00000451292.1_Missense_Mutation_p.S1264C			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	1227					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGCTAGACTCCAGCCCCTCA	0.542																																																0													85	81	83					5																	149773014		2203	4300	6503	SO:0001583	missense	6949				CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.3680C>G	5.37:g.149773014C>G	ENSP00000421655:p.Ser1227Cys		A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Missense_Mutation	SNP	ENST00000504761.2	37	CCDS54936.1	.	.	.	.	.	.	.	.	.	.	C	14.03	2.414686	0.42817	.	.	ENSG00000070814	ENST00000451292;ENST00000377797;ENST00000445265;ENST00000323668;ENST00000439160;ENST00000427724;ENST00000504761;ENST00000513346	T;T;T;T;T;T;T;T	0.58652	0.32;0.32;0.32;0.32;0.32;0.32;0.32;0.32	4.08	2.22	0.28083	.	1.237860	0.05884	N	0.627080	T	0.52289	0.1725	N	0.19112	0.55	0.09310	N	1	P;P;P;D;P	0.56521	0.924;0.924;0.924;0.976;0.924	P;P;P;P;P	0.52856	0.634;0.634;0.634;0.711;0.634	T	0.43032	-0.9416	10	0.48119	T	0.1	0.3147	6.0194	0.19620	0.0:0.7543:0.0:0.2457	.	1190;1150;1189;1227;1151	Q13428-7;Q13428-2;Q13428-6;Q13428;Q13428-8	.;.;.;TCOF_HUMAN;.	C	1264;1228;1151;1150;1190;1189;1227;1227	ENSP00000400939:S1264C;ENSP00000367028:S1228C;ENSP00000409944:S1151C;ENSP00000325223:S1150C;ENSP00000406888:S1190C;ENSP00000390717:S1189C;ENSP00000421655:S1227C;ENSP00000427484:S1227C	ENSP00000325223:S1150C	S	+	2	0	TCOF1	149753207	0.000000	0.05858	0.003000	0.11579	0.181000	0.23173	0.195000	0.17155	0.631000	0.30412	0.561000	0.74099	TCC		0.542	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380552.1	NM_001008656		G	149773014	C	G	149773014	3	3	732	1	0	0	0	0	1	0	0	0	15713	855	30	4	3795	4	TCOF1	5	149773014	Missense_Mutation	SNP	C	TCGA-KN-8426-01A-11D-2310-10	9522131	149773014	31142246	26	41226											
RIPPLY2	134701	broad.mit.edu	37	6	84567032	84567032	+	Missense_Mutation	SNP	C	C	A			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr6:84567032C>A	ENST00000369689.1	+	4	462	c.311C>A	c.(310-312)cCa>cAa	p.P104Q	CYB5R4_ENST00000369679.4_5'Flank|CYB5R4_ENST00000369681.5_5'Flank|RIPPLY2_ENST00000369687.1_Missense_Mutation_p.P46Q	NM_001009994.1	NP_001009994.1	Q5TAB7	RIPP2_HUMAN	ripply transcriptional repressor 2	104	Ripply homology domain. {ECO:0000255}.				bone morphogenesis (GO:0060349)|determination of left/right symmetry (GO:0007368)|Notch signaling pathway (GO:0007219)|ossification (GO:0001503)|post-anal tail morphogenesis (GO:0036342)|regulation of gene expression (GO:0010468)|somite rostral/caudal axis specification (GO:0032525)|somitogenesis (GO:0001756)	nucleus (GO:0005634)				large_intestine(2)|lung(4)|urinary_tract(1)	7						AAAAATTTTCCAATTCAAGCC	0.299																																																0													50	57	54					6																	84567032		2203	4291	6494	SO:0001583	missense	134701			BC130460	CCDS34493.1	6q14.2	2013-07-23	2013-07-23	2008-05-07	ENSG00000203877	ENSG00000203877			21390	protein-coding gene	gene with protein product		609891	"chromosome 6 open reading frame 159", "ripply2 homolog (zebrafish)"	C6orf159			Standard	NM_001009994		Approved	dJ237I15.1	uc003pke.3	Q5TAB7	OTTHUMG00000015117	ENST00000369689.1:c.311C>A	6.37:g.84567032C>A	ENSP00000358703:p.Pro104Gln		Q5TAB6	Missense_Mutation	SNP	ENST00000369689.1	37	CCDS34493.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.120432	0.77323	.	.	ENSG00000203877	ENST00000369689;ENST00000369687	.	.	.	5.64	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.70211	0.3198	M	0.82056	2.57	0.80722	D	1	D	0.71674	0.998	P	0.56474	0.799	T	0.77472	-0.2575	9	0.87932	D	0	-17.6487	16.1544	0.81646	0.1343:0.8657:0.0:0.0	.	104	Q5TAB7	RIPP2_HUMAN	Q	104;46	.	ENSP00000358701:P46Q	P	+	2	0	RIPPLY2	84623751	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.910000	0.75741	1.606000	0.50161	0.650000	0.86243	CCA		0.299	RIPPLY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041360.1	NM_001009994		A	84567032	C	A	84567032	3	1	732	1	0	0	0	0	1	0	0	0	13391	594	21	4	325	4	RIPPLY2	6	84567032	Missense_Mutation	SNP	C	TCGA-KN-8426-01A-11D-2310-10		84567032	86548035	27	41227											
PNRC1	10957	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	6	89793802	89793802	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr6:89793802A>G	ENST00000336032.3	+	2	988	c.871A>G	c.(871-873)Agt>Ggt	p.S291G	PNRC1_ENST00000354922.3_Missense_Mutation_p.S106G|PNRC1_ENST00000369472.1_Missense_Mutation_p.S106G	NM_006813.2	NP_006804.1	Q12796	PNRC1_HUMAN	proline-rich nuclear receptor coactivator 1	291					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(76;3.64e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.102)		ACCTTCTCCTAGTGTTCTTCC	0.413										Multiple Myeloma(7;0.094)																																						0													81	84	83					6																	89793802		2203	4300	6503	SO:0001583	missense	10957			U03105	CCDS5018.1	6q16.1	2008-02-05	2003-09-25	2003-09-26	ENSG00000146278	ENSG00000146278			17278	protein-coding gene	gene with protein product		606714	"proline rich 2"	PROL2		7578250	Standard	NM_006813		Approved	B4-2, PRR2	uc003pmv.3	Q12796	OTTHUMG00000015191	ENST00000336032.3:c.871A>G	6.37:g.89793802A>G	ENSP00000336931:p.Ser291Gly		B2R6Q0|E1P515|Q5T7J6|Q7Z5N0	Missense_Mutation	SNP	ENST00000336032.3	37	CCDS5018.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.952621	0.73787	.	.	ENSG00000146278	ENST00000369472;ENST00000336032;ENST00000354922	T;T;T	0.58358	0.52;0.34;0.52	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.66684	0.2814	M	0.75777	2.31	0.54753	D	0.999985	D	0.89917	1.0	D	0.85130	0.997	T	0.72616	-0.4239	10	0.87932	D	0	-8.9899	15.3712	0.74568	1.0:0.0:0.0:0.0	.	291	Q12796	PNRC1_HUMAN	G	106;291;106	ENSP00000358484:S106G;ENSP00000336931:S291G;ENSP00000347000:S106G	ENSP00000336931:S291G	S	+	1	0	PNRC1	89850521	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.473000	0.73572	2.008000	0.58898	0.533000	0.62120	AGT		0.413	PNRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041471.1	NM_006813		G	89793802	A	G	89793802	3	3	732	1	0	0	0	0	1	0	0	0	12176	420	15	3	877	3	PNRC1	6	89793802	Missense_Mutation	SNP	A	TCGA-KN-8426-01A-11D-2310-10	5226770	89793802	81321265	28	41228											
SLC29A4	222962	mdanderson.org	37	7	5338714	5338714	+	Silent	SNP	T	T	C	rs6950111	byFrequency	TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr7:5338714T>C	ENST00000396872.3	+	8	1139	c.978T>C	c.(976-978)gaT>gaC	p.D326D	SLC29A4_ENST00000406453.3_Silent_p.D312D|SLC29A4_ENST00000297195.4_Silent_p.D326D			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	326					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	Metformin(DB00331)	TGCGCTTTGATGTGCCGCGGC	0.716													C|||	1447	0.288938	0.5151	0.2795	5008	,	,		13632	0.12		0.3052	False		,,,				2504	0.1472															0								C	,	1951,2423		439,1073,675	12	17	15		978,978	-5.9	0	7	dbSNP_116	15	2915,5669		503,1909,1880	no	coding-synonymous,coding-synonymous	SLC29A4	NM_001040661.1,NM_153247.2	,	942,2982,2555	CC,CT,TT		33.9585,44.6045,37.5521	,	326/531,326/531	5338714	4866,8092	2187	4292	6479	SO:0001819	synonymous_variant	222962			AK075422	CCDS5340.1, CCDS75561.1	7p22.2	2013-07-17	2013-07-17		ENSG00000164638	ENSG00000164638		"Solute carriers"	23097	protein-coding gene	gene with protein product		609149	"solute carrier family 29 (nucleoside transporters), member 4"			12838422	Standard	NM_153247		Approved	FLJ34923, ENT4	uc003soc.3	Q7RTT9	OTTHUMG00000023797	ENST00000396872.3:c.978T>C	7.37:g.5338714T>C			Q6PJ08|Q86WY8|Q8NAR3|Q8NBM2	Silent	SNP	ENST00000396872.3	37	CCDS5340.1																																																																																				0.716	SLC29A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060118.6	NM_153247		C	5338714	T	C	5338714	2	2	732	1	0	0	0	0	0	0	0	1	14543	1461	51	3		3	SLC29A4	7	5338714	Silent	SNP	T	TCGA-KN-8426-01A-11D-2310-10		5338714	153799949	29	41229											
OSBPL3	26031	broad.mit.edu	37	7	24931999	24931999	+	Silent	SNP	T	T	C			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr7:24931999T>C	ENST00000313367.2	-	2	544	c.93A>G	c.(91-93)cgA>cgG	p.R31R	OSBPL3_ENST00000353930.1_Silent_p.R31R|OSBPL3_ENST00000352860.1_Silent_p.R31R|OSBPL3_ENST00000409069.1_Silent_p.R31R|OSBPL3_ENST00000396429.1_Silent_p.R31R|OSBPL3_ENST00000396431.1_Silent_p.R31R|OSBPL3_ENST00000431825.2_Silent_p.R31R	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	31					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						ACTTTACCTGTCGACTTCCTT	0.408																																																0													109	92	98					7																	24931999		2203	4300	6503	SO:0001819	synonymous_variant	26031			AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.93A>G	7.37:g.24931999T>C			A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Silent	SNP	ENST00000313367.2	37	CCDS5390.1																																																																																				0.408	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214085.2			C	24931999	T	C	24931999	2	2	732	1	0	0	0	0	0	0	0	1	11281	1654	58	3		3	OSBPL3	7	24931999	Silent	SNP	T	TCGA-KN-8426-01A-11D-2310-10	19593285	24931999	134206664	30	41230											
MUC17	140453	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	7	100677675	100677675	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr7:100677675C>T	ENST00000306151.4	+	3	3042	c.2978C>T	c.(2977-2979)aCg>aTg	p.T993M		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	993	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)					GTCAGCCACACGCTGGTGGCC	0.512																																																0													355	318	331					7																	100677675		2203	4300	6503	SO:0001583	missense	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.2978C>T	7.37:g.100677675C>T	ENSP00000302716:p.Thr993Met		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.825581	0.00071	.	.	ENSG00000169876	ENST00000306151	T	0.02525	4.26	0.373	-0.746	0.11095	.	.	.	.	.	T	0.01489	0.0048	L	0.29908	0.895	0.09310	N	1	D	0.54772	0.968	B	0.31812	0.136	T	0.40496	-0.9560	8	0.39692	T	0.17	.	.	.	.	.	993	Q685J3	MUC17_HUMAN	M	993	ENSP00000302716:T993M	ENSP00000302716:T993M	T	+	2	0	MUC17	100464395	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.033000	0.13754	-3.214000	0.00213	-3.604000	0.00028	ACG		0.512	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		T	100677675	C	T	100677675	3	4	732	1	0	0	0	0	1	0	0	0	9976	536	19	1	2988	1	MUC17	7	100677675	Missense_Mutation	SNP	C	TCGA-KN-8426-01A-11D-2310-10	75745676	100677675	58460988	31	41231											
HBP1	26959	broad.mit.edu	37	7	106827076	106827076	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr7:106827076A>G	ENST00000222574.4	+	6	901	c.715A>G	c.(715-717)Aga>Gga	p.R239G	HBP1_ENST00000468410.1_Missense_Mutation_p.R239G|HBP1_ENST00000461963.1_3'UTR|HBP1_ENST00000485846.1_Missense_Mutation_p.R239G	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN	HMG-box transcription factor 1	239	AXH. {ECO:0000255|PROSITE- ProRule:PRU00496}.				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						AGATTTTGCTAGAGCTGAAGG	0.358																																																0													150	146	147					7																	106827076		2203	4300	6503	SO:0001583	missense	26959			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.715A>G	7.37:g.106827076A>G	ENSP00000222574:p.Arg239Gly		B3KVB7|Q8TBM1|Q8TE93|Q96AJ2	Missense_Mutation	SNP	ENST00000222574.4	37	CCDS5741.1	.	.	.	.	.	.	.	.	.	.	A	16.22	3.062021	0.55432	.	.	ENSG00000105856	ENST00000468410;ENST00000222574;ENST00000485846;ENST00000498408	D;D;D	0.99080	-5.4;-5.4;-5.4	5.95	3.5	0.40072	Ataxin, AXH domain (1);Ataxin-1/HBP1 module (AXH) (3);	0.353809	0.39475	N	0.001345	D	0.97589	0.9210	L	0.46157	1.445	0.44652	D	0.997631	B;B;B	0.24092	0.097;0.053;0.066	B;B;B	0.32677	0.15;0.054;0.09	D	0.94990	0.8133	10	0.66056	D	0.02	-2.4346	12.8743	0.57982	0.7431:0.2569:0.0:0.0	.	249;239;239	B4DJ36;O60381-3;O60381	.;.;HBP1_HUMAN	G	239;239;239;231	ENSP00000420500:R239G;ENSP00000222574:R239G;ENSP00000418738:R239G	ENSP00000222574:R239G	R	+	1	2	HBP1	106614312	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.231000	0.65327	0.462000	0.27095	0.528000	0.53228	AGA		0.358	HBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349297.1	NM_012257		G	106827076	A	G	106827076	3	3	732	1	0	0	0	0	1	0	0	0	6987	412	15	3	733	3	HBP1	7	106827076	Missense_Mutation	SNP	A	TCGA-KN-8426-01A-11D-2310-10	6149401	106827076	52311587	32	41232											
RP1L1	94137	mdanderson.org	37	8	10465962	10465962	+	Missense_Mutation	SNP	C	C	A	rs111646478	byFrequency	TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr8:10465962C>A	ENST00000382483.3	-	4	5869	c.5646G>T	c.(5644-5646)gaG>gaT	p.E1882D		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1962					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)		CTGGCTGGGCCTCTCCTTCTG	0.617													C|||	159	0.0317492	0.0061	0.0548	5008	,	,		16897	0.001		0.0805	False		,,,				2504	0.0317															0													156	173	168					8																	10465962		1942	4150	6092	SO:0001583	missense	94137			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.5646G>T	8.37:g.10465962C>A	ENSP00000371923:p.Glu1882Asp		Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	C	6.872	0.530264	0.13127	.	.	ENSG00000183638	ENST00000382483	T	0.07800	3.16	1.4	-2.79	0.05841	.	.	.	.	.	T	0.04861	0.0131	N	0.24115	0.695	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.44267	-0.9339	9	0.23891	T	0.37	.	7.224	0.26005	0.6018:0.3982:0.0:0.0	.	1882	A6NKC6	.	D	1882	ENSP00000371923:E1882D	ENSP00000371923:E1882D	E	-	3	2	RP1L1	10503372	0.000000	0.05858	0.006000	0.13384	0.007000	0.05969	-3.895000	0.00340	-0.232000	0.09811	-0.516000	0.04426	GAG		0.617	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			A	10465962	C	A	10465962	3	1	732	1	0	0	0	0	1	0	0	0	13539	680	24	4	1560	4	RP1L1	8	10465962	Missense_Mutation	SNP	C	TCGA-KN-8426-01A-11D-2310-10		10465962	135898060	33	41233			1	95		2	2	29	N	T_C	8.140064e-05
RP1L1	94137	mdanderson.org	37	8	10465990	10465990	+	Missense_Mutation	SNP	T	T	C	rs200622636	byFrequency	TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr8:10465990T>C	ENST00000382483.3	-	4	5841	c.5618A>G	c.(5617-5619)gAt>gGt	p.D1873G		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1953					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)		GGCCTCTACATCTTCTGACTC	0.617													T|||	208	0.0415335	0.0068	0.0562	5008	,	,		15764	0.0188		0.0845	False		,,,				2504	0.0573															0													162	175	171					8																	10465990		1917	4128	6045	SO:0001583	missense	94137			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.5618A>G	8.37:g.10465990T>C	ENSP00000371923:p.Asp1873Gly		Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	T	1.367	-0.587110	0.03827	.	.	ENSG00000183638	ENST00000382483	T	0.07567	3.18	1.24	-2.47	0.06442	.	.	.	.	.	T	0.02380	0.0073	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45833	-0.9234	9	0.21540	T	0.41	.	3.4646	0.07545	0.0:0.5294:0.2597:0.211	.	1873	A6NKC6	.	G	1873	ENSP00000371923:D1873G	ENSP00000371923:D1873G	D	-	2	0	RP1L1	10503400	0.001000	0.12720	0.015000	0.15790	0.046000	0.14306	0.311000	0.19380	-0.308000	0.08792	-0.769000	0.03391	GAT		0.617	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			C	10465990	T	C	10465990	3	2	732	1	0	0	0	0	1	0	0	0	13539	1435	50	3	1588	3	RP1L1	8	10465990	Missense_Mutation	SNP	T	TCGA-KN-8426-01A-11D-2310-10	28	10465990	135898032	34	41234			1	95		2	2	29	N	T_C	8.140064e-05
PREX2	80243	broad.mit.edu	37	8	68939495	68939495	+	Silent	SNP	T	T	C			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr8:68939495T>C	ENST00000288368.4	+	5	757	c.480T>C	c.(478-480)gtT>gtC	p.V160V	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	160	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				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						ACACAGATGTTCCCTTGGAAG	0.358																																																0													144	136	139					8																	68939495		2203	4300	6503	SO:0001819	synonymous_variant	80243			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.480T>C	8.37:g.68939495T>C			B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Silent	SNP	ENST00000288368.4	37	CCDS6201.1																																																																																				0.358	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		C	68939495	T	C	68939495	2	2	732	1	0	0	0	0	0	0	0	1	12482	1770	62	3		3	PREX2	8	68939495	Silent	SNP	T	TCGA-KN-8426-01A-11D-2310-10	58473505	68939495	77424527	35	41235											
FLJ43860	389690	broad.mit.edu	37	8	142500306	142500306	+	RNA	SNP	A	A	C	rs199659351		TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr8:142500306A>C	ENST00000430863.1	-	0	688					NM_207414.2	NP_997297.2	Q6ZUA9	MROH5_HUMAN	maestro heat-like repeat family member 5																		CTGCGCCACCACCCGCCACGA	0.662																																																0													24	31	29					8																	142500306		2050	4191	6241			389690					8q24.3	2012-12-20			ENSG00000226807	ENSG00000226807		"maestro heat-like repeat containing"	42976	protein-coding gene	gene with protein product							Standard	NM_207414		Approved	FLJ43860	uc003ywi.2	Q6ZUA9	OTTHUMG00000155944		8.37:g.142500306A>C				Missense_Mutation	SNP	ENST00000430863.1	37																																																																																					0.662	MROH5-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000342412.4	NM_207414		C	142500306	A	C	142500306	1	2	732	0	1	0	0	0	0	0	0	0	5932	159	6	5		5	FLJ43860	8	142500306	RNA	SNP	A	TCGA-KN-8426-01A-11D-2310-10	73560811	142500306	3863716	36	41236											
CYP11B1	1584	mdanderson.org	37	8	143957661	143957661	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr8:143957661T>C	ENST00000292427.4	-	5	982	c.950A>G	c.(949-951)gAc>gGc	p.D317G	CYP11B1_ENST00000377675.3_Missense_Mutation_p.D388G|CYP11B1_ENST00000517471.1_Missense_Mutation_p.D317G	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	317					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	CCTGACCGTGTCCACGCTCCC	0.622									Familial Hyperaldosteronism type I																																							0													111	95	101					8																	143957661		2203	4300	6503	SO:0001583	missense	1584	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"Cytochrome P450s"	2591	protein-coding gene	gene with protein product	"steroid 11-beta-monooxygenase"	610613	"cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.950A>G	8.37:g.143957661T>C	ENSP00000292427:p.Asp317Gly		Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Missense_Mutation	SNP	ENST00000292427.4	37	CCDS6392.1	.	.	.	.	.	.	.	.	.	.	.	13.62	2.291611	0.40494	.	.	ENSG00000160882	ENST00000292427;ENST00000517471;ENST00000377675	T;T;T	0.73258	-0.73;2.26;-0.73	4.1	4.1	0.47936	.	0.123831	0.35870	N	0.002927	D	0.84288	0.5439	M	0.87269	2.87	0.54753	D	0.99998	D;D;D	0.76494	0.999;0.997;0.999	D;D;D	0.75484	0.986;0.974;0.965	D	0.86624	0.1881	10	0.87932	D	0	.	11.3146	0.49383	0.0:0.0:0.0:1.0	.	388;317;317	Q4VAR0;Q4VAQ9;P15538	.;.;C11B1_HUMAN	G	317;317;388	ENSP00000292427:D317G;ENSP00000428043:D317G;ENSP00000366903:D388G	ENSP00000292427:D317G	D	-	2	0	CYP11B1	143954663	1.000000	0.71417	0.945000	0.38365	0.040000	0.13550	1.884000	0.39668	1.608000	0.50180	0.528000	0.53228	GAC		0.622	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			C	143957661	T	C	143957661	3	2	732	1	0	0	0	0	1	0	0	0	4147	1667	58	3	581	3	CYP11B1	8	143957661	Missense_Mutation	SNP	T	TCGA-KN-8426-01A-11D-2310-10	1457355	143957661	2406361	37	41237											
FBXO18	84893	bcgsc.ca	37	10	5978506	5978506	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr10:5978506C>T	ENST00000362091.4	+	20	3032	c.2917C>T	c.(2917-2919)Cct>Tct	p.P973S	FBXO18_ENST00000379999.5_Missense_Mutation_p.P1024S|FBXO18_ENST00000397269.3_Missense_Mutation_p.P477S|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	973					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						CAATGCCATCCCTGTTGACAC	0.488																																																0													209	126	154					10																	5978506		2203	4300	6503	SO:0001583	missense	84893			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.2917C>T	10.37:g.5978506C>T	ENSP00000355415:p.Pro973Ser		Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Missense_Mutation	SNP	ENST00000362091.4	37	CCDS7072.1	.	.	.	.	.	.	.	.	.	.	.	6.350	0.432713	0.12045	.	.	ENSG00000134452	ENST00000397269;ENST00000362091;ENST00000379999	.	.	.	4.87	3.95	0.45737	.	0.489595	0.21027	N	0.081408	T	0.23014	0.0556	N	0.04508	-0.205	0.32363	N	0.556835	B;B;B	0.21147	0.052;0.031;0.013	B;B;B	0.21151	0.033;0.015;0.015	T	0.16778	-1.0391	9	0.10636	T	0.68	-7.8564	11.9015	0.52687	0.0:0.9126:0.0:0.0874	.	1024;973;899	Q8NFZ0-2;Q8NFZ0;Q2TAK1	.;FBX18_HUMAN;.	S	477;973;1024	.	ENSP00000355415:P973S	P	+	1	0	FBXO18	6018512	0.999000	0.42202	0.997000	0.53966	0.717000	0.41224	2.003000	0.40844	2.403000	0.81681	0.454000	0.30748	CCT		0.488	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	NM_032807		T	5978506	C	T	5978506	3	4	732	1	0	0	0	0	1	0	0	0	5733	623	22	2	3157	2	FBXO18	10	5978506	Missense_Mutation	SNP	C	TCGA-KN-8426-01A-11D-2310-10		5978506	129556241	38	41238											
SVIL	6840	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	10	29759270	29759270	+	Silent	SNP	G	G	A	rs201300228		TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr10:29759270G>A	ENST00000355867.4	-	32	6530	c.5778C>T	c.(5776-5778)caC>caT	p.H1926H	PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000455774.1_RNA|SVIL_ENST00000535393.1_Silent_p.H840H|PTCHD3P1_ENST00000423223.1_RNA|SVIL_ENST00000375400.3_Silent_p.H1500H|PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000375398.2_Silent_p.H1926H	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1926					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)				CTTTGCATCCGTGCCACAGGT	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		19719	0.0		0.001	False		,,,				2504	0.0															0													198	163	175					10																	29759270		2203	4300	6503	SO:0001819	synonymous_variant	6840			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.5778C>T	10.37:g.29759270G>A			D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Silent	SNP	ENST00000355867.4	37	CCDS7164.1																																																																																				0.567	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			A	29759270	G	A	29759270	2	1	732	1	0	0	0	0	0	0	0	1	15426	1136	40	1		1	SVIL	10	29759270	Silent	SNP	G	TCGA-KN-8426-01A-11D-2310-10	23780764	29759270	105775477	39	41239											
ITGB1	3688	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	10	33218830	33218830	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr10:33218830C>T	ENST00000396033.2	-	4	431	c.296G>A	c.(295-297)aGc>aAc	p.S99N	ITGB1_ENST00000302278.3_Missense_Mutation_p.S99N|ITGB1_ENST00000374956.4_Missense_Mutation_p.S99N|ITGB1_ENST00000423113.1_Missense_Mutation_p.S99N|ITGB1_ENST00000484088.1_5'UTR	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	99					axon extension (GO:0048675)|axon guidance (GO:0007411)|B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cardiac muscle cell differentiation (GO:0055007)|cell fate specification (GO:0001708)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular response to ionizing radiation (GO:0071479)|cellular response to mechanical stimulus (GO:0071260)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|formation of radial glial scaffolds (GO:0021943)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell migration (GO:0008354)|heterotypic cell-cell adhesion (GO:0034113)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|maternal process involved in female pregnancy (GO:0060135)|mesodermal cell differentiation (GO:0048333)|negative regulation of anoikis (GO:2000811)|negative regulation of cell projection organization (GO:0031345)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein transport within lipid bilayer (GO:0032594)|regulation of cell cycle (GO:0051726)|regulation of collagen catabolic process (GO:0010710)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of immune response (GO:0050776)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|response to transforming growth factor beta (GO:0071559)|sarcomere organization (GO:0045214)|tight junction assembly (GO:0070830)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha1-beta1 complex (GO:0034665)|integrin alpha10-beta1 complex (GO:0034680)|integrin alpha11-beta1 complex (GO:0034681)|integrin alpha2-beta1 complex (GO:0034666)|integrin alpha3-beta1 complex (GO:0034667)|integrin alpha7-beta1 complex (GO:0034677)|integrin alpha8-beta1 complex (GO:0034678)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|intercalated disc (GO:0014704)|invadopodium membrane (GO:0071438)|membrane (GO:0016020)|membrane raft (GO:0045121)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|cell adhesion molecule binding (GO:0050839)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|peptide binding (GO:0042277)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|virus receptor activity (GO:0001618)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)			Antithymocyte globulin(DB00098)	TGTTCCTTTGCTACGGTTGGT	0.413																																																0													338	326	330					10																	33218830		2203	4300	6503	SO:0001583	missense	3688			BC020057	CCDS7174.1	10p11.2	2010-10-13			ENSG00000150093	ENSG00000150093		"CD molecules", "Integrins"	6153	protein-coding gene	gene with protein product		135630		FNRB, MSK12, MDF2		2524991	Standard	NM_033668		Approved	CD29, GPIIA	uc001iwt.4	P05556	OTTHUMG00000017928	ENST00000396033.2:c.296G>A	10.37:g.33218830C>T	ENSP00000379350:p.Ser99Asn		A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6	Missense_Mutation	SNP	ENST00000396033.2	37	CCDS7174.1	.	.	.	.	.	.	.	.	.	.	C	11.45	1.643371	0.29246	.	.	ENSG00000150093	ENST00000396033;ENST00000423113;ENST00000302278;ENST00000374956;ENST00000480226;ENST00000474568;ENST00000488494;ENST00000534049;ENST00000437302;ENST00000475184;ENST00000528877	D;D;D;D;D;D;D;D;D;D;D	0.92495	-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05	5.49	4.59	0.56863	Integrin beta subunit, N-terminal (2);	0.150804	0.64402	D	0.000008	T	0.80105	0.4562	N	0.11364	0.135	0.23506	N	0.997538	B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.001	B;B;B;B;B	0.04013	0.001;0.001;0.001;0.001;0.001	T	0.64888	-0.6301	10	0.27082	T	0.32	.	4.0811	0.09927	0.1704:0.5843:0.0:0.2452	.	99;99;99;99;99	P05556-2;P05556;P05556-5;P05556-3;P05556-4	.;ITB1_HUMAN;.;.;.	N	99;99;99;99;99;42;102;99;99;99;99	ENSP00000379350:S99N;ENSP00000388694:S99N;ENSP00000303351:S99N;ENSP00000364094:S99N;ENSP00000417537:S99N;ENSP00000420282:S42N;ENSP00000418725:S102N;ENSP00000431326:S99N;ENSP00000398029:S99N;ENSP00000417243:S99N;ENSP00000436214:S99N	ENSP00000303351:S99N	S	-	2	0	ITGB1	33258836	0.475000	0.25894	0.981000	0.43875	0.993000	0.82548	0.396000	0.20867	1.318000	0.45170	0.591000	0.81541	AGC		0.413	ITGB1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047496.1	NM_002211		T	33218830	C	T	33218830	3	4	732	1	0	0	0	0	1	0	0	0	7892	797	28	2	2390	2	ITGB1	10	33218830	Missense_Mutation	SNP	C	TCGA-KN-8426-01A-11D-2310-10	3459560	33218830	102315917	40	41240											
MUC2	4583	mdanderson.org	37	11	1093569	1093569	+	Silent	SNP	A	A	C	rs72842460	byFrequency	TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr11:1093569A>C	ENST00000441003.2	+	30	5415	c.5388A>C	c.(5386-5388)acA>acC	p.T1796T	MUC2_ENST00000333592.6_Silent_p.T84T|MUC2_ENST00000361558.6_Intron|MUC2_ENST00000359061.5_Silent_p.T1752T	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0					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)	tcaccaccacaactacGGTGA	0.587																																																0													87	116	106					11																	1093569		2190	4268	6458	SO:0001819	synonymous_variant	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.5388A>C	11.37:g.1093569A>C			Q14878	Silent	SNP	ENST00000441003.2	37																																																																																					0.587	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		C	1093569	A	C	1093569	2	2	732	1	0	0	0	0	0	0	0	1	9977	117	5	5		5	MUC2	11	1093569	Silent	SNP	A	TCGA-KN-8426-01A-11D-2310-10		1093569	133912947	41	41241											
TH	7054	bcgsc.ca	37	11	2190951	2190951	+	Missense_Mutation	SNP	C	C	T	rs6356	byFrequency	TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr11:2190951C>T	ENST00000381178.1	-	3	352	c.334G>A	c.(334-336)Gtg>Atg	p.V112M	TH_ENST00000352909.3_Missense_Mutation_p.V81M|TH_ENST00000333684.5_Missense_Mutation_p.V85M|TH_ENST00000381175.1_Missense_Mutation_p.V108M	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	112			V -> M (common polymorphism; dbSNP:rs6356). {ECO:0000269|PubMed:10391209, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:21940685, ECO:0000269|PubMed:7789962, ECO:0000269|PubMed:9613851}.		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)	AGGTTTAGCACGGCCTTCCCC	0.697													C|||	2156	0.430511	0.1014	0.3919	5008	,	,		15378	0.7877		0.4026	False		,,,				2504	0.5634															0								C	MET/VAL,MET/VAL,MET/VAL	623,3779	265.6+/-266.7	36,551,1614	58	60	60	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	241,334,322	-1.8	0	11	dbSNP_52	60	3121,5477	472.4+/-368.3	569,1983,1747	yes	missense,missense,missense	TH	NM_000360.3,NM_199292.2,NM_199293.2	21,21,21	605,2534,3361	TT,TC,CC		36.2991,14.1527,28.8	benign,benign,benign	81/498,112/529,108/525	2190951	3744,9256	2201	4299	6500	SO:0001583	missense	7054			X05290	CCDS7730.1, CCDS7731.1, CCDS31338.1	11p15.5	2013-06-03			ENSG00000180176	ENSG00000180176	1.14.16.2		11782	protein-coding gene	gene with protein product	"tyrosine 3-monooxygenase"	191290					Standard	NM_199292		Approved	DYT5b	uc001lvq.3	P07101	OTTHUMG00000009559	ENST00000381178.1:c.334G>A	11.37:g.2190951C>T	ENSP00000370571:p.Val112Met		B7ZL70|B7ZL73|Q0PWM2|Q0PWM3|Q15585|Q15588|Q15589|Q2M3B4	Missense_Mutation	SNP	ENST00000381178.1	37	CCDS7731.1	913	0.41804029304029305	52	0.10569105691056911	127	0.35082872928176795	443	0.7744755244755245	291	0.3839050131926121	C	13.68	2.310931	0.40895	0.141527	0.362991	ENSG00000180176	ENST00000381178;ENST00000381175;ENST00000352909;ENST00000333684	D;D;D;D	0.98419	-4.92;-4.92;-4.92;-4.92	3.59	-1.8	0.07907	.	0.577810	0.17552	N	0.170143	T	0.00012	0.0000	L	0.31664	0.95	0.80722	P	0.0	B;B;B;B;B	0.24576	0.037;0.037;0.044;0.016;0.106	B;B;B;B;B	0.21151	0.006;0.006;0.02;0.005;0.033	T	0.41662	-0.9496	9	0.33141	T	0.24	.	4.7289	0.12955	0.0:0.2915:0.2918:0.4167	rs6356;rs57599796;rs6356	85;81;81;112;108	Q0PWM2;Q0PWM3;P07101-3;P07101;P07101-2	.;.;.;TY3H_HUMAN;.	M	112;108;81;85	ENSP00000370571:V112M;ENSP00000370567:V108M;ENSP00000325951:V81M;ENSP00000328814:V85M	ENSP00000328814:V85M	V	-	1	0	TH	2147527	0.000000	0.05858	0.000000	0.03702	0.948000	0.59901	-0.327000	0.07955	-0.189000	0.10482	0.491000	0.48974	GTG		0.697	TH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026597.1	NM_000360		T	2190951	C	T	2190951	3	4	732	1	0	0	0	0	1	0	0	0	15843	536	19	1	1300	1	TH	11	2190951	Missense_Mutation	SNP	C	TCGA-KN-8426-01A-11D-2310-10	1097382	2190951	132815565	42	41242											
OR51M1	390059	ucsc.edu;mdanderson.org;bcgsc.ca	37	11	5411028	5411028	+	Missense_Mutation	SNP	C	C	T	rs74683499	byFrequency	TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr11:5411028C>T	ENST00000328611.3	+	1	422	c.400C>T	c.(400-402)Cgc>Tgc	p.R134C	HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001004756.2	NP_001004756.2	Q9H341	O51M1_HUMAN	olfactory receptor, family 51, subfamily M, member 1	134					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.R134S(1)		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)		GTCCTTTGACCGCCTTGTGGC	0.517													c|||	97	0.019369	0.0673	0.0086	5008	,	,		22578	0.001		0.0	False		,,,				2504	0.001															1	Substitution - Missense(1)	lung(1)						T	CYS/ARG	211,3915		8,195,1860	220	211	214		400	2.2	1	11	dbSNP_131	214	9,8477		0,9,4234	yes	missense	OR51M1	NM_001004756.2	180	8,204,6094	TT,TC,CC		0.1061,5.1139,1.7444	probably-damaging	134/327	5411028	220,12392	2063	4243	6306	SO:0001583	missense	390059			BK004382	CCDS53596.1	11p15.4	2012-08-09			ENSG00000184698	ENSG00000184698		"GPCR / Class A : Olfactory receptors"	14847	protein-coding gene	gene with protein product							Standard	NM_001004756		Approved		uc010qzc.2	Q9H341	OTTHUMG00000066680	ENST00000328611.3:c.400C>T	11.37:g.5411028C>T	ENSP00000333196:p.Arg134Cys		Q6IF80	Missense_Mutation	SNP	ENST00000328611.3	37	CCDS53596.1	35	0.016025641025641024	31	0.06300813008130081	3	0.008287292817679558	1	0.0017482517482517483	0	0.0	c	8.963	0.971057	0.18659	0.051139	0.001061	ENSG00000184698	ENST00000328611	T	0.77358	-1.09	5.06	2.22	0.28083	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34200	U	0.004166	T	0.42562	0.1208	M	0.87097	2.86	0.39920	D	0.974145	P	0.52316	0.952	P	0.51453	0.67	T	0.70450	-0.4868	10	0.87932	D	0	.	9.3107	0.37903	0.0:0.7644:0.0:0.2356	.	123	Q9H341	O51M1_HUMAN	C	134	ENSP00000333196:R134C	ENSP00000333196:R134C	R	+	1	0	OR51M1	5367604	0.000000	0.05858	0.968000	0.41197	0.217000	0.24651	-0.832000	0.04400	0.330000	0.23485	-0.119000	0.15052	CGC		0.517	OR51M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142981.1	NM_001004756		T	5411028	C	T	5411028	3	4	732	1	0	0	0	0	1	0	0	0	11105	652	23	1	402	1	OR51M1	11	5411028	Missense_Mutation	SNP	C	TCGA-KN-8426-01A-11D-2310-10	3220077	5411028	129595488	43	41243											
CCDC73	493860	ucsc.edu;mdanderson.org;bcgsc.ca	37	11	32636263	32636263	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr11:32636263G>T	ENST00000335185.5	-	16	1644	c.1601C>A	c.(1600-1602)cCa>cAa	p.P534Q	CCDC73_ENST00000534415.1_5'Flank	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	534										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)					ATGATTATTTGGTGATTTAAA	0.318																																																0													131	118	122					11																	32636263		1819	4075	5894	SO:0001583	missense	493860			AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.1601C>A	11.37:g.32636263G>T	ENSP00000335325:p.Pro534Gln		Q6P5Q7|Q6ZMW0|Q86WE7	Missense_Mutation	SNP	ENST00000335185.5	37	CCDS41630.1	.	.	.	.	.	.	.	.	.	.	G	8.072	0.770379	0.15983	.	.	ENSG00000186714	ENST00000335185	.	.	.	5.42	2.1	0.27182	.	1.166390	0.06315	N	0.703327	T	0.21550	0.0519	L	0.40543	1.245	0.09310	N	1	P	0.34462	0.454	B	0.27380	0.079	T	0.20874	-1.0262	9	0.13853	T	0.58	.	0.2746	0.00236	0.33:0.1473:0.2777:0.245	.	534	Q6ZRK6	CCD73_HUMAN	Q	534	.	ENSP00000335325:P534Q	P	-	2	0	CCDC73	32592839	0.000000	0.05858	0.064000	0.19789	0.113000	0.19764	-0.315000	0.08081	0.631000	0.30412	0.591000	0.81541	CCA		0.318	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2	NM_001008391		T	32636263	G	T	32636263	3	4	732	1	0	0	0	0	1	0	0	0	2848	1348	47	4	1650	4	CCDC73	11	32636263	Missense_Mutation	SNP	G	TCGA-KN-8426-01A-11D-2310-10	27225235	32636263	102370253	44	41244											
CDC42BPG	55561	mdanderson.org	37	11	64597205	64597205	+	Silent	SNP	G	G	T	rs7936466	byFrequency	TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr11:64597205G>T	ENST00000342711.5	-	30	3704	c.3705C>A	c.(3703-3705)ggC>ggA	p.G1235G	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						ATAGCCGGTCGCCCAGCAGCC	0.716													G|||	1371	0.273762	0.0439	0.2147	5008	,	,		14616	0.4931		0.2555	False		,,,				2504	0.4192															0								G		328,3866		16,296,1785	7	9	8		3705	-0.6	1	11	dbSNP_116	8	1926,6434		211,1504,2465	no	coding-synonymous	CDC42BPG	NM_017525.2		227,1800,4250	TT,TG,GG		23.0383,7.8207,17.9544		1235/1552	64597205	2254,10300	2097	4180	6277	SO:0001819	synonymous_variant	55561			AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"Pleckstrin homology (PH) domain containing"	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.3705C>A	11.37:g.64597205G>T				Silent	SNP	ENST00000342711.5	37	CCDS31601.1																																																																																				0.716	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516		T	64597205	G	T	64597205	2	4	732	1	0	0	0	0	0	0	0	1	3076	1074	38	4		4	CDC42BPG	11	64597205	Silent	SNP	G	TCGA-KN-8426-01A-11D-2310-10	31960942	64597205	70409311	45	41245											
ARAP1	116985	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	11	72438103	72438103	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr11:72438103G>A	ENST00000393609.3	-	3	273	c.71C>T	c.(70-72)aCg>aTg	p.T24M	ARAP1_ENST00000455638.2_Missense_Mutation_p.T24M|ARAP1_ENST00000359373.5_Missense_Mutation_p.T24M	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	24	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				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						AAAGAGCCCCGTGTACTGCTC	0.657																																					Ovarian(102;1198 1520 13195 17913 37529)											0													16	21	20					11																	72438103		2084	4202	6286	SO:0001583	missense	116985			AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16925	protein-coding gene	gene with protein product		606646	"centaurin, delta 2"	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.71C>T	11.37:g.72438103G>A	ENSP00000377233:p.Thr24Met		A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Missense_Mutation	SNP	ENST00000393609.3	37	CCDS41687.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.830810	0.50845	.	.	ENSG00000186635	ENST00000359373;ENST00000455638;ENST00000393609	T;T;T	0.50001	0.76;0.76;0.76	4.59	3.67	0.42095	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.356212	0.26190	N	0.025808	T	0.41673	0.1169	L	0.46157	1.445	0.26422	N	0.976081	D;D	0.54207	0.957;0.965	B;P	0.47102	0.402;0.537	T	0.36553	-0.9743	10	0.54805	T	0.06	.	4.6932	0.12791	0.1784:0.2125:0.609:0.0	.	24;24	Q96P48-3;Q96P48	.;ARAP1_HUMAN	M	24	ENSP00000352332:T24M;ENSP00000390461:T24M;ENSP00000377233:T24M	ENSP00000352332:T24M	T	-	2	0	ARAP1	72115751	0.170000	0.23016	0.821000	0.32701	0.955000	0.61496	1.164000	0.31810	1.130000	0.42092	0.555000	0.69702	ACG		0.657	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1	NM_001040118		A	72438103	G	A	72438103	3	1	732	1	0	0	0	0	1	0	0	0	838	1145	40	1	4413	1	ARAP1	11	72438103	Missense_Mutation	SNP	G	TCGA-KN-8426-01A-11D-2310-10	7840898	72438103	62568413	46	41246											
TMPRSS13	84000	broad.mit.edu;bcgsc.ca	37	11	117784539	117784539	+	Missense_Mutation	SNP	C	C	G			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr11:117784539C>G	ENST00000430170.2	-	5	849	c.762G>C	c.(760-762)tgG>tgC	p.W254C	TMPRSS13_ENST00000524993.1_Missense_Mutation_p.W254C|TMPRSS13_ENST00000445164.2_Missense_Mutation_p.W254C|TMPRSS13_ENST00000526090.1_Missense_Mutation_p.W254C|TMPRSS13_ENST00000528626.1_Missense_Mutation_p.W219C	NM_001244995.1	NP_001231924.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	254	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.					blood microparticle (GO:0072562)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		AGGAGTCATTCCAGTTGCTGC	0.537																																																0													75	79	78					11																	117784539		1907	4112	6019	SO:0001583	missense	84000			AB048796	CCDS41721.1, CCDS55788.1, CCDS55789.1, CCDS58185.1	11q23	2010-04-13	2005-03-11	2005-03-12	ENSG00000137747	ENSG00000137747		"Serine peptidases / Transmembrane"	29808	protein-coding gene	gene with protein product		610050	"transmembrane protease, serine 11"	TMPRSS11		11267681	Standard	NM_001077263		Approved	MSPL	uc001prs.2	Q9BYE2	OTTHUMG00000166992	ENST00000430170.2:c.762G>C	11.37:g.117784539C>G	ENSP00000387702:p.Trp254Cys		B4DTM9|E9PIJ5|F8WAJ3|Q86YM4|Q96JY8|Q9BYE1	Missense_Mutation	SNP	ENST00000430170.2	37	CCDS58185.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.365229	0.82463	.	.	ENSG00000137747	ENST00000528626;ENST00000336500;ENST00000524993;ENST00000430170;ENST00000445164;ENST00000526090	T;T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49;-0.49	5.69	5.69	0.88448	.	0.000000	0.64402	D	0.000015	D	0.88190	0.6370	M	0.91140	3.18	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.90128	0.4204	10	0.87932	D	0	.	19.4133	0.94685	0.0:1.0:0.0:0.0	.	249;254	Q9BYE2-4;E9PRA0	.;.	C	219;249;254;254;254;254	ENSP00000435813:W219C;ENSP00000434279:W254C;ENSP00000387702:W254C;ENSP00000394114:W254C;ENSP00000436502:W254C	ENSP00000337113:W249C	W	-	3	0	TMPRSS13	117289749	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	6.462000	0.73526	2.700000	0.92200	0.561000	0.74099	TGG		0.537	TMPRSS13-006	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000392318.1	NM_032046		G	117784539	C	G	117784539	3	3	732	1	0	0	0	0	1	0	0	0	16250	856	30	4	977	4	TMPRSS13	11	117784539	Missense_Mutation	SNP	C	TCGA-KN-8426-01A-11D-2310-10	45346436	117784539	17221977	47	41247											
CLEC6A	93978	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	12	8618083	8618083	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr12:8618083G>A	ENST00000382073.3	+	4	413	c.227G>A	c.(226-228)tGg>tAg	p.W76*		NM_001007033.1	NP_001007034.1	Q6EIG7	CLC6A_HUMAN	C-type lectin domain family 6, member A	76					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)					AAAATAGCCTGGGGATGTTGC	0.383																																																0													118	113	115					12																	8618083		2203	4300	6503	SO:0001587	stop_gained	93978			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.227G>A	12.37:g.8618083G>A	ENSP00000371505:p.Trp76*		A2RUK3	Nonsense_Mutation	SNP	ENST00000382073.3	37	CCDS31739.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.706150	0.89018	.	.	ENSG00000205846	ENST00000382073	.	.	.	4.09	3.19	0.36642	.	0.000000	0.35235	N	0.003345	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.6456	0.28318	0.1143:0.0:0.8857:0.0	.	.	.	.	X	76	.	ENSP00000371505:W76X	W	+	2	0	CLEC6A	8509350	1.000000	0.71417	0.925000	0.36789	0.631000	0.37964	3.314000	0.51943	1.292000	0.44672	0.650000	0.86243	TGG		0.383	CLEC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400562.1	NM_001007033		A	8618083	G	A	8618083	4	1	732	1	0	0	0	0	0	1	0	0	3522	1357	47	2	241	2	CLEC6A	12	8618083	Nonsense_Mutation	SNP	G	TCGA-KN-8426-01A-11D-2310-10		8618083	125233812	48	41248											
PRB2	653247	mdanderson.org	37	12	11546448	11546448	+	Silent	SNP	G	G	A	rs11054278		TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr12:11546448G>A	ENST00000389362.4	-	3	599	c.564C>T	c.(562-564)ggC>ggT	p.G188G	PRB1_ENST00000546254.1_Intron|PRB2_ENST00000545829.1_5'Flank	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	188	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGGGCTGGTTGCCTCCTTGTG	0.602																																																0													148	148	148					12																	11546448		2166	4270	6436	SO:0001819	synonymous_variant	653247			K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.564C>T	12.37:g.11546448G>A			O00599|P02811|P04281	Silent	SNP	ENST00000389362.4	37	CCDS41757.2																																																																																				0.602	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		A	11546448	G	A	11546448	2	1	732	1	0	0	0	0	0	0	0	1	12448	1306	46	2		2	PRB2	12	11546448	Silent	SNP	G	TCGA-KN-8426-01A-11D-2310-10	2928365	11546448	122305447	49	41249											
KIF5A	3798	broad.mit.edu	37	12	57957254	57957254	+	Silent	SNP	C	C	T			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr12:57957254C>T	ENST00000455537.2	+	2	436	c.162C>T	c.(160-162)ccC>ccT	p.P54P	KIF5A_ENST00000286452.5_Intron	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	54	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						GTGTATTCCCCCCAAACACGA	0.413																																																0													99	89	92					12																	57957254		2203	4300	6503	SO:0001819	synonymous_variant	3798			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.162C>T	12.37:g.57957254C>T			A6H8M5|Q4LE26	Silent	SNP	ENST00000455537.2	37	CCDS8945.1																																																																																				0.413	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		T	57957254	C	T	57957254	2	4	732	1	0	0	0	0	0	0	0	1	8307	610	22	2		2	KIF5A	12	57957254	Silent	SNP	C	TCGA-KN-8426-01A-11D-2310-10	46410806	57957254	75894641	50	41250											
CCDC59	29080	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	12	82747061	82747061	+	Nonsense_Mutation	SNP	C	C	A			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr12:82747061C>A	ENST00000256151.7	-	4	1006	c.595G>T	c.(595-597)Gaa>Taa	p.E199*	CCDC59_ENST00000548126.1_5'UTR	NM_014167.4	NP_054886.2	Q9P031	TAP26_HUMAN	coiled-coil domain containing 59	199					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)	5						CTTTGGGCTTCTTCTCTCTCC	0.328																																																0													124	115	118					12																	82747061		2203	4299	6502	SO:0001587	stop_gained	29080			AF213377	CCDS9023.1	12q21.31	2007-10-17				ENSG00000133773			25005	protein-coding gene	gene with protein product						16630564, 12882447	Standard	NM_014167		Approved	HSPC128, TAP26, BR22	uc001szp.4	Q9P031		ENST00000256151.7:c.595G>T	12.37:g.82747061C>A	ENSP00000256151:p.Glu199*		Q9H2V5|Q9NW62	Nonsense_Mutation	SNP	ENST00000256151.7	37	CCDS9023.1	.	.	.	.	.	.	.	.	.	.	C	40	8.294946	0.98747	.	.	ENSG00000133773	ENST00000256151	.	.	.	5.87	5.87	0.94306	.	0.093803	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-30.2799	18.7629	0.91860	0.0:1.0:0.0:0.0	.	.	.	.	X	199	.	ENSP00000256151:E199X	E	-	1	0	CCDC59	81271192	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	4.974000	0.63771	2.775000	0.95449	0.650000	0.86243	GAA		0.328	CCDC59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408186.1	NM_014167		A	82747061	C	A	82747061	4	1	732	1	0	0	0	0	0	1	0	0	2831	922	32	4	134	4	CCDC59	12	82747061	Nonsense_Mutation	SNP	C	TCGA-KN-8426-01A-11D-2310-10	24789807	82747061	51104834	51	41251											
RNF17	56163	ucsc.edu	37	13	25439115	25439115	+	Silent	SNP	T	T	C	rs372000517		TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr13:25439115T>C	ENST00000255324.5	+	29	4132	c.4080T>C	c.(4078-4080)caT>caC	p.H1360H	RNF17_ENST00000381921.1_Intron|RNF17_ENST00000339524.3_Intron	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1360					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)		CTTCTGAACATACTGAGGAGA	0.303																																																0								T	,	0,4398		0,0,2199	75	77	76		4068,4080	-1.4	0.9	13		76	1,8563	1.2+/-3.3	0,1,4281	no	coding-synonymous,coding-synonymous	RNF17	NM_001184993.1,NM_031277.2	,	0,1,6480	CC,CT,TT		0.0117,0.0,0.0077	,	1356/1620,1360/1624	25439115	1,12961	2199	4282	6481	SO:0001819	synonymous_variant	56163			AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"RING-type (C3HC4) zinc fingers", "Tudor domain containing"	10060	protein-coding gene	gene with protein product	"spermatogenesis associated 23"	605793	"tudor domain containing 4"	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.4080T>C	13.37:g.25439115T>C			Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Silent	SNP	ENST00000255324.5	37	CCDS9308.2																																																																																				0.303	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		C	25439115	T	C	25439115	2	2	732	1	0	0	0	0	0	0	0	1	13467	1403	49	3		3	RNF17	13	25439115	Silent	SNP	T	TCGA-KN-8426-01A-11D-2310-10		25439115	89730763	52	41252											
DGKH	160851	ucsc.edu	37	13	42623046	42623046	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr13:42623046A>G	ENST00000337343.4	+	1	158	c.137A>G	c.(136-138)gAg>gGg	p.E46G	DGKH_ENST00000261491.5_Missense_Mutation_p.E46G|DGKH_ENST00000540693.1_Missense_Mutation_p.E46G|DGKH_ENST00000379274.2_5'UTR	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	46					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)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		GCGGAGCAAGAGGGACCCCAG	0.716																																																0													18	17	18					13																	42623046		2196	4298	6494	SO:0001583	missense	160851			AB078967	CCDS9381.1, CCDS9382.1, CCDS55898.1	13q13.3	2013-01-10			ENSG00000102780	ENSG00000102780		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	2854	protein-coding gene	gene with protein product		604071				8702685	Standard	XM_005266271		Approved	DGKeta	uc001uyl.2	Q86XP1	OTTHUMG00000016804	ENST00000337343.4:c.137A>G	13.37:g.42623046A>G	ENSP00000337572:p.Glu46Gly		A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9	Missense_Mutation	SNP	ENST00000337343.4	37	CCDS9381.1	.	.	.	.	.	.	.	.	.	.	A	19.89	3.911329	0.72983	.	.	ENSG00000102780	ENST00000540693;ENST00000337343;ENST00000261491	T;T;T	0.81247	-1.47;-1.29;-1.47	4.26	4.26	0.50523	.	0.091905	0.39544	N	0.001327	T	0.74891	0.3776	L	0.29908	0.895	0.80722	D	1	P;B	0.44139	0.827;0.002	P;B	0.46758	0.526;0.003	T	0.72551	-0.4259	10	0.26408	T	0.33	.	13.6415	0.62253	1.0:0.0:0.0:0.0	.	46;46	Q86XP1-2;Q86XP1	.;DGKH_HUMAN	G	46	ENSP00000440823:E46G;ENSP00000337572:E46G;ENSP00000261491:E46G	ENSP00000261491:E46G	E	+	2	0	DGKH	41521046	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.038000	0.70964	1.684000	0.51022	0.254000	0.18369	GAG		0.716	DGKH-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044699.2	NM_178009		G	42623046	A	G	42623046	3	3	732	1	0	0	0	0	1	0	0	0	4472	304	11	3	139	3	DGKH	13	42623046	Missense_Mutation	SNP	A	TCGA-KN-8426-01A-11D-2310-10	17183931	42623046	72546832	53	41253											
PIBF1	10464	broad.mit.edu	37	13	73572977	73572977	+	Silent	SNP	A	A	G			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr13:73572977A>G	ENST00000326291.6	+	17	2405	c.2067A>G	c.(2065-2067)aaA>aaG	p.K689K	PIBF1_ENST00000489922.1_3'UTR	NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	689						centrosome (GO:0005813)				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		CAGCAATGAAACAGATTCTCG	0.303																																																0													61	55	57					13																	73572977		2203	4299	6502	SO:0001819	synonymous_variant	10464			AF330046	CCDS31991.1	13q21.33	2014-02-20	2007-10-17	2007-10-17	ENSG00000083535	ENSG00000083535			23352	protein-coding gene	gene with protein product	"progesterone-induced blocking factor 1"	607532	"chromosome 13 open reading frame 24"	C13orf24		11935316	Standard	NM_006346		Approved	CEP90	uc001vjc.3	Q8WXW3	OTTHUMG00000017071	ENST00000326291.6:c.2067A>G	13.37:g.73572977A>G			O95664|Q6U9V2|Q6UG50|Q86V07|Q96SF4	Silent	SNP	ENST00000326291.6	37	CCDS31991.1																																																																																				0.303	PIBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045255.1	NM_006346		G	73572977	A	G	73572977	2	3	732	1	0	0	0	0	0	0	0	1	11881	40	2	3		3	PIBF1	13	73572977	Silent	SNP	A	TCGA-KN-8426-01A-11D-2310-10	30949931	73572977	41596901	54	41254											
LRFN5	145581	broad.mit.edu	37	14	42355997	42355997	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr14:42355997C>T	ENST00000298119.4	+	3	1358	c.169C>T	c.(169-171)Cgg>Tgg	p.R57W	LRFN5_ENST00000554171.1_Missense_Mutation_p.R57W|LRFN5_ENST00000554120.1_Missense_Mutation_p.R57W	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	57						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)		TGTGGAACTGCGGTTGGCAGA	0.383										HNSCC(30;0.082)																																						0													64	58	60					14																	42355997		2203	4300	6503	SO:0001583	missense	145581			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.169C>T	14.37:g.42355997C>T	ENSP00000298119:p.Arg57Trp		B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.905412	0.52333	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.52983	0.64;0.64;0.64	5.56	4.64	0.57946	.	0.000000	0.50627	D	0.000116	T	0.69214	0.3086	M	0.79805	2.47	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.73751	-0.3884	10	0.72032	D	0.01	.	13.2597	0.60098	0.16:0.84:0.0:0.0	.	57;57	G3V364;Q96NI6	.;LRFN5_HUMAN	W	57	ENSP00000298119:R57W;ENSP00000451897:R57W;ENSP00000451067:R57W	ENSP00000298119:R57W	R	+	1	2	LRFN5	41425747	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	3.226000	0.51254	1.276000	0.44395	0.650000	0.86243	CGG		0.383	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		T	42355997	C	T	42355997	3	4	732	1	0	0	0	0	1	0	0	0	8943	759	27	1	171	1	LRFN5	14	42355997	Missense_Mutation	SNP	C	TCGA-KN-8426-01A-11D-2310-10		42355997	64993543	55	41255											
SYT16	83851	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	14	62462902	62462902	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr14:62462902G>T	ENST00000430451.2	+	1	362	c.165G>T	c.(163-165)caG>caT	p.Q55H	SYT16_ENST00000446982.2_Missense_Mutation_p.Q55H	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	55					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)		AACTAGATCAGGACTTAGATA	0.388																																																0													138	134	135					14																	62462902		1867	4116	5983	SO:0001583	missense	83851			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.165G>T	14.37:g.62462902G>T	ENSP00000394700:p.Gln55His		B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Missense_Mutation	SNP	ENST00000430451.2	37	CCDS45121.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.140061	0.37728	.	.	ENSG00000139973	ENST00000446982;ENST00000430451	T;T	0.36520	1.25;3.57	5.34	4.37	0.52481	.	0.000000	0.46442	D	0.000297	T	0.49525	0.1562	L	0.51422	1.61	0.23287	N	0.997971	D;D	0.89917	1.0;0.99	D;P	0.70935	0.971;0.707	T	0.33007	-0.9885	10	0.72032	D	0.01	-14.5578	9.808	0.40805	0.1467:0.0:0.8533:0.0	.	55;55	B4DZH2;Q17RD7	.;SYT16_HUMAN	H	55	ENSP00000388023:Q55H;ENSP00000394700:Q55H	ENSP00000394700:Q55H	Q	+	3	2	SYT16	61532655	1.000000	0.71417	1.000000	0.80357	0.575000	0.36095	2.327000	0.43858	2.776000	0.95493	0.650000	0.86243	CAG		0.388	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000411700.1	NM_031914		T	62462902	G	T	62462902	3	4	732	1	0	0	0	0	1	0	0	0	15477	991	35	4	167	4	SYT16	14	62462902	Missense_Mutation	SNP	G	TCGA-KN-8426-01A-11D-2310-10	20106905	62462902	44886638	56	41256											
PLEKHG3	26030	broad.mit.edu	37	14	65194463	65194464	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr14:65194463_65194464insC	ENST00000394691.1	+	2	261_262	c.114_115insC	c.(115-117)cccfs	p.P39fs	PLEKHG3_ENST00000247226.7_Frame_Shift_Ins_p.P39fs			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	39	Ser-rich.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		CCATGGAGGAGCCCAGCAGCTC	0.644																																																0																																										SO:0001589	frameshift_variant	26030			AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	20364	protein-coding gene	gene with protein product			"KIAA0599"	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.117dupC	14.37:g.65194466_65194466dupC	ENSP00000378183:p.Pro39fs		A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Frame_Shift_Ins	INS	ENST00000394691.1	37																																																																																					0.644	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412028.1	NM_015549		C	65194464	-	C	65194463	7	5	732	1	0	1	1	0	0	0	0	0	12072	962	34	0	116	0	PLEKHG3	14	65194463	Frame_Shift_Ins	INS	-	TCGA-KN-8426-01A-11D-2310-10	2731561	65194463	42155077	57	41257											
TRIP11	9321	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	14	92471894	92471894	+	Missense_Mutation	SNP	A	A	C			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr14:92471894A>C	ENST00000267622.4	-	11	2799	c.2426T>G	c.(2425-2427)cTt>cGt	p.L809R		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	809					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)		CTTGTTTATAAGTTGTGTCAA	0.318			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)		Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	0													87	93	91					14																	92471894		2203	4300	6503	SO:0001583	missense	9321			L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.2426T>G	14.37:g.92471894A>C	ENSP00000267622:p.Leu809Arg		B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	CCDS9899.1	.	.	.	.	.	.	.	.	.	.	A	9.614	1.131949	0.21041	.	.	ENSG00000100815	ENST00000267622;ENST00000542257	T	0.10005	2.92	5.77	4.6	0.57074	.	0.211258	0.41396	N	0.000885	T	0.26846	0.0657	M	0.66939	2.045	0.49687	D	0.999814	P;D	0.76494	0.565;0.999	B;D	0.70935	0.16;0.971	T	0.04870	-1.0921	10	0.16420	T	0.52	.	12.8783	0.58001	0.864:0.136:0.0:0.0	.	545;809	F5H1Z0;Q15643	.;TRIPB_HUMAN	R	809;545	ENSP00000267622:L809R	ENSP00000267622:L809R	L	-	2	0	TRIP11	91541647	0.998000	0.40836	0.004000	0.12327	0.073000	0.16967	5.005000	0.63972	0.970000	0.38263	0.254000	0.18369	CTT		0.318	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			C	92471894	A	C	92471894	3	2	732	1	0	0	0	0	1	0	0	0	16560	72	3	5	3557	5	TRIP11	14	92471894	Missense_Mutation	SNP	A	TCGA-KN-8426-01A-11D-2310-10	27277431	92471894	14877646	58	41258											
NIPA2	81614	broad.mit.edu	37	15	23006232	23006232	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr15:23006232T>C	ENST00000337451.3	-	8	1684	c.1072A>G	c.(1072-1074)Aca>Gca	p.T358A	NIPA2_ENST00000398013.3_Missense_Mutation_p.T358A|NIPA2_ENST00000539711.2_Missense_Mutation_p.T339A|NIPA2_ENST00000398014.2_Missense_Mutation_p.T358A|NIPA2_ENST00000359727.4_Missense_Mutation_p.T339A	NM_030922.6	NP_112184.4	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 2	358						early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|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;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		TAAAAAGCTGTCAGATTTCCA	0.318																																																0													56	58	57					15																	23006232		2203	4299	6502	SO:0001583	missense	81614			AY732242	CCDS73693.1, CCDS73694.1	15q11.2	2008-02-05			ENSG00000140157	ENSG00000140157			17044	protein-coding gene	gene with protein product		608146				14508708	Standard	NM_001008860		Approved		uc001yuz.3	Q8N8Q9	OTTHUMG00000129101	ENST00000337451.3:c.1072A>G	15.37:g.23006232T>C	ENSP00000337618:p.Thr358Ala		F8W7Y8|Q96F03|Q9BVS2	Missense_Mutation	SNP	ENST00000337451.3	37	CCDS10010.1	.	.	.	.	.	.	.	.	.	.	T	10.10	1.258288	0.23051	.	.	ENSG00000140157	ENST00000337451;ENST00000398014;ENST00000359727;ENST00000539711;ENST00000398013	D;D;D;D	0.89939	-2.59;-2.59;-2.59;-2.59	5.76	-8.9	0.00782	.	0.726605	0.14377	N	0.323405	T	0.66297	0.2775	N	0.08118	0	0.20074	N	0.999935	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.58814	-0.7570	10	0.19590	T	0.45	-5.4043	4.4746	0.11729	0.3697:0.4077:0.0876:0.135	.	339;358	F8W7Y8;Q8N8Q9	.;NIPA2_HUMAN	A	358;358;339;358;339	ENSP00000337618:T358A;ENSP00000381096:T358A;ENSP00000352762:T339A;ENSP00000381095:T339A	ENSP00000337618:T358A	T	-	1	0	NIPA2	20557673	0.895000	0.30542	0.064000	0.19789	0.726000	0.41606	-0.125000	0.10579	-1.658000	0.01490	-1.100000	0.02121	ACA		0.318	NIPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251137.1	NM_030922		C	23006232	T	C	23006232	3	2	732	1	0	0	0	0	1	0	0	0	10425	1667	58	3	14	3	NIPA2	15	23006232	Missense_Mutation	SNP	T	TCGA-KN-8426-01A-11D-2310-10		23006232	79525160	59	41259											
FMN1	342184	broad.mit.edu	37	15	33261112	33261113	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr15:33261112_33261113insG	ENST00000559047.1	-	5	2788_2789	c.2789_2790insC	c.(2788-2790)cttfs	p.L930fs	FMN1_ENST00000334528.9_Frame_Shift_Ins_p.L707fs|SNORD77_ENST00000391113.1_RNA|FMN1_ENST00000561249.1_Frame_Shift_Ins_p.L832fs			Q68DA7	FMN1_HUMAN	formin 1	930	FH1.|Pro-rich.				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)		GGGAGTTAGGAAgtgggggtgg	0.668																																																0																																										SO:0001589	frameshift_variant	342184			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.2789_2790insC	15.37:g.33261112_33261113insG	ENSP00000454047:p.Leu930fs		Q3B7I6|Q3ZAR4|Q6ZSY1	Frame_Shift_Ins	INS	ENST00000559047.1	37																																																																																					0.668	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184		G	33261113	-	G	33261112	7	5	732	1	0	1	1	0	0	0	0	0	5951	233	9	0	1525	0	FMN1	15	33261112	Frame_Shift_Ins	INS	-	TCGA-KN-8426-01A-11D-2310-10	10254880	33261112	69270280	60	41260											
ZFP106	64397	broad.mit.edu	37	15	42734362	42734362	+	Silent	SNP	T	T	C			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr15:42734362T>C	ENST00000263805.4	-	7	3929	c.3603A>G	c.(3601-3603)caA>caG	p.Q1201Q	ZNF106_ENST00000565380.1_Silent_p.Q429Q|ZNF106_ENST00000565611.1_Silent_p.Q386Q	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	1201					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)										ACATGGGCTCTTGTTTAATCT	0.478																																																0													165	151	155					15																	42734362		2203	4299	6502	SO:0001819	synonymous_variant	64397			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.3603A>G	15.37:g.42734362T>C			B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Silent	SNP	ENST00000263805.4	37	CCDS32208.1																																																																																				0.478	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		C	42734362	T	C	42734362	2	2	732	1	0	0	0	0	0	0	0	1	17642	1606	56	3		3	ZFP106	15	42734362	Silent	SNP	T	TCGA-KN-8426-01A-11D-2310-10	9473250	42734362	59797030	61	41261											
TPSAB1	7177	mdanderson.org	37	16	1291269	1291269	+	Silent	SNP	C	C	T	rs200858385		TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr16:1291269C>T	ENST00000338844.3	+	3	210	c.177C>T	c.(175-177)tgC>tgT	p.C59C	TPSAB1_ENST00000461509.2_Silent_p.C66C	NM_003294.3	NP_003285.2	Q15661	TRYB1_HUMAN	tryptase alpha/beta 1	59	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				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)				TGCACTTCTGCGGGGGCTCCC	0.692																																																0																																										SO:0001819	synonymous_variant	7177			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.177C>T	16.37:g.1291269C>T			D2E6R9|D2E6S1|P15157|Q15663|Q6B052|Q9H2Y4|Q9H2Y5|Q9UQI1	Silent	SNP	ENST00000338844.3	37	CCDS10431.1																																																																																				0.692	TPSAB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000206914.1	NM_003294		T	1291269	C	T	1291269	2	4	732	1	0	0	0	0	0	0	0	1	16428	776	27	1		1	TPSAB1	16	1291269	Silent	SNP	C	TCGA-KN-8426-01A-11D-2310-10		1291269	89063484	62	41262											
TPSD1	23430	mdanderson.org	37	16	1306665	1306665	+	Silent	SNP	A	A	G	rs3993988		TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr16:1306665A>G	ENST00000211076.3	+	2	379	c.231A>G	c.(229-231)ctA>ctG	p.L77L	TPSD1_ENST00000397534.2_Silent_p.L70L|RP11-616M22.5_ENST00000566997.1_RNA	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	77	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)				AGTGGGTGCTAACCGCGGCGC	0.701																																																0													47	57	54					16																	1306665		2199	4299	6498	SO:0001819	synonymous_variant	23430			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.231A>G	16.37:g.1306665A>G			O95824|Q8TDI6|Q96L36|Q96RZ5|Q9H2Y6|Q9UQI8	Silent	SNP	ENST00000211076.3	37	CCDS10432.1																																																																																				0.701	TPSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250320.2			G	1306665	A	G	1306665	2	3	732	1	0	0	0	0	0	0	0	1	16430	349	13	3		3	TPSD1	16	1306665	Silent	SNP	A	TCGA-KN-8426-01A-11D-2310-10	15396	1306665	89048088	63	41263											
DNAH3	55567	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	16	21049160	21049160	+	Nonsense_Mutation	SNP	C	C	A			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr16:21049160C>A	ENST00000261383.3	-	34	4872	c.4873G>T	c.(4873-4875)Gaa>Taa	p.E1625*	DNAH3_ENST00000415178.1_Nonsense_Mutation_p.E1625*	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1625					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)		AGGACACTTTCATTCTCCTCT	0.507																																																0													136	110	119					16																	21049160		2201	4300	6501	SO:0001587	stop_gained	55567			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.4873G>T	16.37:g.21049160C>A	ENSP00000261383:p.Glu1625*		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Nonsense_Mutation	SNP	ENST00000261383.3	37	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	45	11.822684	0.99607	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.9616	0.97254	0.0:1.0:0.0:0.0	.	.	.	.	X	1625	.	ENSP00000261383:E1625X	E	-	1	0	DNAH3	20956661	1.000000	0.71417	0.992000	0.48379	0.676000	0.39594	7.764000	0.85297	2.724000	0.93272	0.561000	0.74099	GAA		0.507	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		A	21049160	C	A	21049160	4	1	732	1	0	0	0	0	0	1	0	0	4605	835	29	4	7592	4	DNAH3	16	21049160	Nonsense_Mutation	SNP	C	TCGA-KN-8426-01A-11D-2310-10	19742495	21049160	69305593	64	41264											
QPRT	23475	hgsc.bcm.edu	37	16	29706448	29706448	+	Silent	SNP	G	G	T	rs569256152	byFrequency	TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr16:29706448G>T	ENST00000395384.4	+	2	638	c.477G>T	c.(475-477)tcG>tcT	p.S159S	QPRT_ENST00000562473.1_Intron|QPRT_ENST00000219771.7_Intron	NM_014298.3	NP_055113.2	Q15274	NADC_HUMAN	quinolinate phosphoribosyltransferase	159					NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|protein oligomerization (GO:0051259)|quinolinate catabolic process (GO:0034213)|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)	nicotinate-nucleotide diphosphorylase (carboxylating) activity (GO:0004514)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9					Niacin(DB00627)	GGGCCGCCTCGCACCGCTACG	0.687													g|||	3	0.000599042	0.0	0.0	5008	,	,		11932	0.0		0.0	False		,,,				2504	0.0031															0													25	38	34					16																	29706448		2150	4242	6392	SO:0001819	synonymous_variant	23475			D78177	CCDS10651.1	16p11.2	2008-07-31	2008-07-31		ENSG00000103485	ENSG00000103485	2.4.2.19		9755	protein-coding gene	gene with protein product	"nicotinate-nucleotide pyrophosphorylase (carboxylating)"	606248				9473669	Standard	NM_014298		Approved	QPRTase	uc002dto.3	Q15274	OTTHUMG00000097770	ENST00000395384.4:c.477G>T	16.37:g.29706448G>T			Q53XW7|Q96G22|Q9BSG6	Silent	SNP	ENST00000395384.4	37	CCDS10651.1																																																																																				0.687	QPRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215011.2	NM_014298		T	29706448	G	T	29706448	2	4	732	1	0	0	0	0	0	0	0	1	12882	1074	38	4		4	QPRT	16	29706448	Silent	SNP	G	TCGA-KN-8426-01A-11D-2310-10	8657288	29706448	60648305	65	41265											
ZFHX3	463	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	16	72992269	72992269	+	Missense_Mutation	SNP	G	G	T	rs11075951	byFrequency	TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr16:72992269G>T	ENST00000268489.5	-	2	2448	c.1776C>A	c.(1774-1776)gaC>gaA	p.D592E	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	592					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)				TGGCACTTTCGTCAGCGAAGT	0.552																																																0													108	104	105					16																	72992269		2198	4300	6498	SO:0001583	missense	463			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.1776C>A	16.37:g.72992269G>T	ENSP00000268489:p.Asp592Glu		D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	G	4.385	0.071015	0.08436	.	.	ENSG00000140836	ENST00000268489	T	0.75260	-0.92	5.04	-1.87	0.07737	.	0.000000	0.52532	D	0.000080	T	0.53578	0.1805	N	0.17474	0.49	0.80722	D	1	P	0.37573	0.6	B	0.38985	0.287	T	0.40683	-0.9550	10	0.17369	T	0.5	.	11.3231	0.49435	0.6672:0.0:0.3328:0.0	.	592	Q15911	ZFHX3_HUMAN	E	592	ENSP00000268489:D592E	ENSP00000268489:D592E	D	-	3	2	ZFHX3	71549770	0.935000	0.31712	0.992000	0.48379	0.925000	0.55904	0.137000	0.15995	-0.231000	0.09825	-0.827000	0.03088	GAC		0.552	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		T	72992269	G	T	72992269	3	4	732	1	0	0	0	0	1	0	0	0	17639	1136	40	4	9371	4	ZFHX3	16	72992269	Missense_Mutation	SNP	G	TCGA-KN-8426-01A-11D-2310-10	43285821	72992269	17362484	66	41266											
GALNS	2588	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	16	88889069	88889069	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr16:88889069T>C	ENST00000268695.5	-	12	1380	c.1292A>G	c.(1291-1293)aAt>aGt	p.N431S	GALNS_ENST00000542788.1_Missense_Mutation_p.N356S	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfatase	431					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)|N-acetylgalactosamine-6-sulfatase activity (GO:0043890)|sulfuric ester hydrolase activity (GO:0008484)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)		GTCTTCCAGATTGTGAGTTGT	0.617																																					GBM(129;1929 2344 25209 33204)											0													106	90	96					16																	88889069		2198	4299	6497	SO:0001583	missense	2588			D17629	CCDS10970.1	16q24.3	2014-07-03	2014-07-03		ENSG00000141012	ENSG00000141012	3.1.6.4	"Arylsulfatase family"	4122	protein-coding gene	gene with protein product	"Morquio syndrome", "mucopolysaccharidosis type IVA"	612222	"galactosamine (N-acetyl)-6-sulfate sulfatase"			1755850	Standard	NM_000512		Approved	GAS, GALNAC6S	uc002fly.4	P34059	OTTHUMG00000137862	ENST00000268695.5:c.1292A>G	16.37:g.88889069T>C	ENSP00000268695:p.Asn431Ser		Q86VK3	Missense_Mutation	SNP	ENST00000268695.5	37	CCDS10970.1	.	.	.	.	.	.	.	.	.	.	T	0.007	-1.956637	0.00465	.	.	ENSG00000141012	ENST00000268695;ENST00000542788	D;D	0.89415	-2.51;-2.51	4.89	1.67	0.24075	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.751136	0.13268	N	0.400708	T	0.67711	0.2922	N	0.03608	-0.345	0.09310	N	0.999997	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.003	T	0.55952	-0.8059	10	0.08381	T	0.77	.	2.9126	0.05742	0.0864:0.2963:0.3381:0.2792	.	431;431	B2R6P1;P34059	.;GALNS_HUMAN	S	431;356	ENSP00000268695:N431S;ENSP00000438197:N356S	ENSP00000268695:N431S	N	-	2	0	GALNS	87416570	0.010000	0.17322	0.999000	0.59377	0.015000	0.08874	0.718000	0.25866	0.668000	0.31126	-0.795000	0.03280	AAT		0.617	GALNS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269543.1			C	88889069	T	C	88889069	3	2	732	1	0	0	0	0	1	0	0	0	6208	1493	52	3	288	3	GALNS	16	88889069	Missense_Mutation	SNP	T	TCGA-KN-8426-01A-11D-2310-10	15896800	88889069	1465684	67	41267											
POLDIP2	26073	broad.mit.edu	37	17	26677558	26677558	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr17:26677558T>C	ENST00000540200.1	-	10	814	c.815A>G	c.(814-816)gAc>gGc	p.D272G	POLDIP2_ENST00000003607.4_5'UTR	NM_015584.3	NP_056399.1	Q9Y2S7	PDIP2_HUMAN	polymerase (DNA-directed), delta interacting protein 2	273	ApaG. {ECO:0000255|PROSITE- ProRule:PRU00412}.				mitochondrion morphogenesis (GO:0070584)	mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)					all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		CACATCACTGTCAAGGTTCTC	0.532																																																0													64	65	65					17																	26677558		1965	4169	6134	SO:0001583	missense	26073			AF077203	CCDS74018.1	17q11.2	2008-02-05			ENSG00000004142	ENSG00000004142			23781	protein-coding gene	gene with protein product		611519				12522211	Standard	NM_015584		Approved	PDIP38, DKFZP586F1524	uc002haz.3	Q9Y2S7	OTTHUMG00000132065	ENST00000540200.1:c.815A>G	17.37:g.26677558T>C	ENSP00000475924:p.Asp272Gly		B2R846|Q96JE4	Missense_Mutation	SNP	ENST00000540200.1	37																																																																																					0.532	POLDIP2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_015584		C	26677558	T	C	26677558	3	2	732	1	0	0	0	0	1	0	0	0	12196	1667	58	3	300	3	POLDIP2	17	26677558	Missense_Mutation	SNP	T	TCGA-KN-8426-01A-11D-2310-10		26677558	54517652	68	41268											
UTP6	55813	broad.mit.edu	37	17	30207665	30207665	+	Silent	SNP	T	T	C			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr17:30207665T>C	ENST00000261708.4	-	11	1031	c.894A>G	c.(892-894)aaA>aaG	p.K298K	CTC-542B22.2_ENST00000583236.1_lincRNA	NM_018428.2	NP_060898.2	Q9NYH9	UTP6_HUMAN	UTP6, small subunit (SSU) processome component, homolog (yeast)	298					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)				CCTCCACTGCTTTGGCTTGTT	0.502																																																0													196	174	181					17																	30207665		2203	4300	6503	SO:0001819	synonymous_variant	55813			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.894A>G	17.37:g.30207665T>C			Q8IX96|Q96BL2|Q9NQ91	Silent	SNP	ENST00000261708.4	37	CCDS11269.1																																																																																				0.502	UTP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256265.2	NM_018428		C	30207665	T	C	30207665	2	2	732	1	0	0	0	0	0	0	0	1	17107	1606	56	3		3	UTP6	17	30207665	Silent	SNP	T	TCGA-KN-8426-01A-11D-2310-10	3530107	30207665	50987545	69	41269											
FAM134C	162427	ucsc.edu	37	17	40737279	40737279	+	Splice_Site	SNP	A	A	G			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr17:40737279A>G	ENST00000309428.5	-	6	650	c.591T>C	c.(589-591)ctT>ctC	p.L197L	FAM134C_ENST00000585894.1_Splice_Site_p.L100L|FAM134C_ENST00000543197.1_Splice_Site_p.L2L	NM_178126.3	NP_835227.1	Q86VR2	F134C_HUMAN	family with sequence similarity 134, member C	197						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)		TGACAGTGACAACTGTGAGGA	0.532																																																0													66	52	57					17																	40737279		2203	4300	6503	SO:0001630	splice_region_variant	162427			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.590-1T>C	17.37:g.40737279A>G			B3KR75	Silent	SNP	ENST00000309428.5	37	CCDS11432.1																																																																																				0.532	FAM134C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450536.1	NM_178126	Silent	G	40737279	A	G	40737279	5	3	732	1	0	0	0	0	0	0	1	0	5449	144	5	3	825	3	FAM134C	17	40737279	Splice_Site	SNP	A	TCGA-KN-8426-01A-11D-2310-10	10529614	40737279	40457931	70	41270											
GJC1	10052	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	17	42882018	42882018	+	Missense_Mutation	SNP	C	C	A			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr17:42882018C>A	ENST00000426548.1	-	3	1437	c.1168G>T	c.(1168-1170)Ggg>Tgg	p.G390W	GJC1_ENST00000592524.1_Missense_Mutation_p.G390W|GJC1_ENST00000330514.4_Missense_Mutation_p.G390W|GJC1_ENST00000590758.1_Missense_Mutation_p.G390W	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	390					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle tissue development (GO:0048738)|cell development (GO:0048468)|cell-cell junction assembly (GO:0007043)|gap junction assembly (GO:0016264)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vasculogenesis (GO:0001570)|visual perception (GO:0007601)	connexon complex (GO:0005922)|endoplasmic reticulum membrane (GO:0005789)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion channel activity (GO:0005216)			NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				GAGGTCTTCCCATCCCCTGAT	0.493																																																0													134	126	129					17																	42882018		2203	4300	6503	SO:0001583	missense	10052			U03493	CCDS11487.1	17q21.31	2008-02-04	2007-11-06	2007-11-06		ENSG00000182963		"Ion channels / Gap junction proteins (connexins)"	4280	protein-coding gene	gene with protein product	"connexin 45"	608655	"gap junction protein, alpha 7, 45kDa"	GJA7		7966354	Standard	NM_005497		Approved	CX45	uc002ihl.3	P36383		ENST00000426548.1:c.1168G>T	17.37:g.42882018C>A	ENSP00000411528:p.Gly390Trp		B3KW68|Q4VAY0	Missense_Mutation	SNP	ENST00000426548.1	37	CCDS11487.1	.	.	.	.	.	.	.	.	.	.	C	18.93	3.728356	0.69074	.	.	ENSG00000182963	ENST00000426548;ENST00000330514	D;D	0.98455	-4.94;-4.94	5.48	5.48	0.80851	.	0.764469	0.12267	N	0.484156	D	0.98679	0.9557	L	0.55990	1.75	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.98871	1.0766	10	0.87932	D	0	.	18.3265	0.90256	0.0:1.0:0.0:0.0	.	390	P36383	CXG1_HUMAN	W	390	ENSP00000411528:G390W;ENSP00000333193:G390W	ENSP00000333193:G390W	G	-	1	0	GJC1	40237544	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.487000	0.81328	2.569000	0.86673	0.655000	0.94253	GGG		0.493	GJC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448661.1	NM_005497		A	42882018	C	A	42882018	3	1	732	1	0	0	0	0	1	0	0	0	6416	594	21	4	26	4	GJC1	17	42882018	Missense_Mutation	SNP	C	TCGA-KN-8426-01A-11D-2310-10	2144739	42882018	38313192	71	41271											
SLC16A5	9121	bcgsc.ca	37	17	73102117	73102117	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr17:73102117A>G	ENST00000450736.2	+	6	1922	c.1507A>G	c.(1507-1509)Agc>Ggc	p.S503G	SLC16A5_ENST00000329783.4_Missense_Mutation_p.S503G|SLC16A5_ENST00000580123.1_Missense_Mutation_p.S503G			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	503					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	gggctggaatagccctacctg	0.542											OREG0024726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													38	30	33					17																	73102117		2203	4300	6503	SO:0001583	missense	9121			U59299	CCDS11713.1	17q25.1	2013-07-18	2013-07-18		ENSG00000170190	ENSG00000170190		"Solute carriers"	10926	protein-coding gene	gene with protein product		603879	"solute carrier family 16 (monocarboxylic acid transporters), member 5", "solute carrier family 16, member 5 (monocarboxylic acid transporter 6)"			9425115	Standard	NM_004695		Approved	MCT5, MCT6	uc002jmr.4	O15375	OTTHUMG00000179277	ENST00000450736.2:c.1507A>G	17.37:g.73102117A>G	ENSP00000390564:p.Ser503Gly	1142	B4E288	Missense_Mutation	SNP	ENST00000450736.2	37	CCDS11713.1	.	.	.	.	.	.	.	.	.	.	A	9.218	1.032641	0.19590	.	.	ENSG00000170190	ENST00000329783;ENST00000450736	T;T	0.07444	3.19;3.19	2.82	-1.3	0.09259	.	.	.	.	.	T	0.04815	0.0130	N	0.08118	0	0.09310	N	0.999999	P	0.43392	0.805	P	0.45506	0.483	T	0.31806	-0.9930	9	0.87932	D	0	.	3.237	0.06768	0.3636:0.1957:0.0:0.4407	.	503	O15375	MOT6_HUMAN	G	503	ENSP00000330141:S503G;ENSP00000390564:S503G	ENSP00000330141:S503G	S	+	1	0	SLC16A5	70613712	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.341000	0.19909	-0.321000	0.08627	0.418000	0.28097	AGC		0.542	SLC16A5-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445547.1	NM_004695		G	73102117	A	G	73102117	3	3	732	1	0	0	0	0	1	0	0	0	14417	420	15	3	1525	3	SLC16A5	17	73102117	Missense_Mutation	SNP	A	TCGA-KN-8426-01A-11D-2310-10	30220099	73102117	8093093	72	41272											
LMAN1	3998	bcgsc.ca	37	18	57000391	57000391	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr18:57000391A>G	ENST00000251047.5	-	11	2023	c.1306T>C	c.(1306-1308)Ttc>Ctc	p.F436L		NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1	436					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)	ATGTCAATGAAGTGCTGTGTT	0.423																																																0													87	82	84					18																	57000391		2203	4300	6503	SO:0001583	missense	3998			X71661	CCDS11974.1	18q21.3-q22	2014-09-17	2002-08-30		ENSG00000074695	ENSG00000074695			6631	protein-coding gene	gene with protein product	"endoplasmic reticulum-golgi intermediate compartment protein 53"	601567	"coagulation factor V-factor VIII combined deficiency"	F5F8D		9546392, 8854877	Standard	NM_005570		Approved	MR60, ERGIC-53, ERGIC53, gp58, MCFD1, FMFD1	uc002lhz.3	P49257	OTTHUMG00000132758	ENST00000251047.5:c.1306T>C	18.37:g.57000391A>G	ENSP00000251047:p.Phe436Leu		Q12895|Q8N5I7|Q9UQG1|Q9UQG2|Q9UQG3|Q9UQG4|Q9UQG5|Q9UQG6|Q9UQG7|Q9UQG8|Q9UQG9|Q9UQH0|Q9UQH1|Q9UQH2	Missense_Mutation	SNP	ENST00000251047.5	37	CCDS11974.1	.	.	.	.	.	.	.	.	.	.	A	13.44	2.238027	0.39598	.	.	ENSG00000074695	ENST00000251047	T	0.55234	0.53	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.57431	0.2053	M	0.61703	1.905	0.80722	D	1	P	0.45634	0.863	P	0.46885	0.53	T	0.54622	-0.8266	10	0.25106	T	0.35	-12.9726	15.942	0.79763	1.0:0.0:0.0:0.0	.	436	P49257	LMAN1_HUMAN	L	436	ENSP00000251047:F436L	ENSP00000251047:F436L	F	-	1	0	LMAN1	55151371	1.000000	0.71417	1.000000	0.80357	0.059000	0.15707	8.923000	0.92808	2.248000	0.74166	0.533000	0.62120	TTC		0.423	LMAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256129.2	NM_005570		G	57000391	A	G	57000391	3	3	732	1	0	0	0	0	1	0	0	0	8838	72	3	3	238	3	LMAN1	18	57000391	Missense_Mutation	SNP	A	TCGA-KN-8426-01A-11D-2310-10		57000391	21076857	73	41273											
MUC16	94025	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	19	8966765	8966765	+	Silent	SNP	C	C	T			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr19:8966765C>T	ENST00000397910.4	-	81	43391	c.43188G>A	c.(43186-43188)tcG>tcA	p.S14396S	MUC16_ENST00000380951.5_Silent_p.S1037S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14494				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						GAGCCAGTGGCGAGAAGTTAC	0.527																																																0													27	31	29					19																	8966765		1958	4136	6094	SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.43188G>A	19.37:g.8966765C>T			Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	1.585	-0.530574	0.04112	.	.	ENSG00000181143	ENST00000542240	.	.	.	4.22	-0.708	0.11241	.	1.029670	0.07728	N	0.944810	T	0.27663	0.0680	.	.	.	.	.	.	.	.	.	.	.	.	T	0.33929	-0.9849	4	.	.	.	.	4.1107	0.10057	0.0:0.3062:0.1787:0.5151	.	.	.	.	H	1219	.	.	R	-	2	0	MUC16	8827765	0.000000	0.05858	0.017000	0.16124	0.013000	0.08279	-3.159000	0.00578	-0.283000	0.09115	-1.295000	0.01343	CGC		0.527	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	8966765	C	T	8966765	2	4	732	1	0	0	0	0	0	0	0	1	9975	755	27	1		1	MUC16	19	8966765	Silent	SNP	C	TCGA-KN-8426-01A-11D-2310-10		8966765	50162218	74	41274											
SMARCA4	6597	broad.mit.edu	37	19	11096982	11096982	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr19:11096982A>G	ENST00000429416.3	+	5	754	c.473A>G	c.(472-474)gAc>gGc	p.D158G	SMARCA4_ENST00000413806.3_Missense_Mutation_p.D158G|SMARCA4_ENST00000541122.2_Missense_Mutation_p.D158G|SMARCA4_ENST00000590574.1_Missense_Mutation_p.D158G|SMARCA4_ENST00000358026.2_Missense_Mutation_p.D158G|SMARCA4_ENST00000444061.3_Missense_Mutation_p.D158G|SMARCA4_ENST00000589677.1_Missense_Mutation_p.D158G|SMARCA4_ENST00000344626.4_Missense_Mutation_p.D158G|SMARCA4_ENST00000450717.3_Missense_Mutation_p.D158G	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	158	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)				GATGGTGCTGACCCCCAGGCC	0.642			"F, N, Mis"		NSCLC																																		Rec	yes		19	19p13.2	6597	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"		E	1	Unknown(1)	lung(1)											28	28	28					19																	11096982		2203	4299	6502	SO:0001583	missense	6597			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4"	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.473A>G	19.37:g.11096982A>G	ENSP00000395654:p.Asp158Gly		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	A	8.408	0.843558	0.16963	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.87103	-2.21;-2.2;-2.21;-2.21;-2.2;-2.21;-2.21	4.46	4.46	0.54185	.	0.122556	0.52532	D	0.000066	T	0.81093	0.4751	L	0.43152	1.355	0.37701	D	0.924203	B;B;B;P;B;B;B	0.37466	0.007;0.007;0.007;0.596;0.007;0.007;0.007	B;B;B;B;B;B;B	0.32289	0.007;0.007;0.007;0.143;0.007;0.012;0.012	D	0.84683	0.0718	10	0.56958	D	0.05	-46.7299	12.871	0.57965	1.0:0.0:0.0:0.0	.	158;158;158;158;158;158;158	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;A7E2E1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	G	158	ENSP00000395654:D158G;ENSP00000350720:D158G;ENSP00000343896:D158G;ENSP00000445036:D158G;ENSP00000392837:D158G;ENSP00000397783:D158G;ENSP00000414727:D158G	ENSP00000343896:D158G	D	+	2	0	SMARCA4	10957982	1.000000	0.71417	0.917000	0.36280	0.019000	0.09904	7.120000	0.77153	1.877000	0.54381	0.460000	0.39030	GAC		0.642	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		G	11096982	A	G	11096982	3	3	732	1	0	0	0	0	1	0	0	0	14776	275	10	3	483	3	SMARCA4	19	11096982	Missense_Mutation	SNP	A	TCGA-KN-8426-01A-11D-2310-10	2130217	11096982	48032001	75	41275											
SPTBN4	57731	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	41003434	41003434	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr19:41003434A>G	ENST00000352632.3	+	7	793	c.707A>G	c.(706-708)aAt>aGt	p.N236S	SPTBN4_ENST00000344104.3_Missense_Mutation_p.N236S|SPTBN4_ENST00000595535.1_Missense_Mutation_p.N236S|SPTBN4_ENST00000338932.3_Missense_Mutation_p.N236S|SPTBN4_ENST00000598249.1_Missense_Mutation_p.N236S			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	236	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)			ACCAAGTCCAATGCCAACTAC	0.662																																																0													109	90	96					19																	41003434		2203	4300	6503	SO:0001583	missense	57731			AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"Pleckstrin homology (PH) domain containing"	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.707A>G	19.37:g.41003434A>G	ENSP00000263373:p.Asn236Ser		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	A	16.12	3.033515	0.54896	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.58358	0.34;0.34;0.34	3.92	3.92	0.45320	Calponin homology domain (5);	0.437819	0.18796	N	0.130913	T	0.60894	0.2304	L	0.43646	1.37	0.80722	D	1	B;P	0.51791	0.003;0.948	B;P	0.61940	0.007;0.896	T	0.60642	-0.7223	10	0.49607	T	0.09	.	11.9119	0.52743	1.0:0.0:0.0:0.0	.	236;236	Q9H254;Q71S06	SPTN4_HUMAN;.	S	236	ENSP00000263373:N236S;ENSP00000340345:N236S;ENSP00000340741:N236S	ENSP00000340345:N236S	N	+	2	0	SPTBN4	45695274	1.000000	0.71417	0.972000	0.41901	0.968000	0.65278	8.992000	0.93519	1.646000	0.50622	0.378000	0.23410	AAT		0.662	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			G	41003434	A	G	41003434	3	3	732	1	0	0	0	0	1	0	0	0	15126	101	4	3	729	3	SPTBN4	19	41003434	Missense_Mutation	SNP	A	TCGA-KN-8426-01A-11D-2310-10	29906452	41003434	18125549	76	41276											
CEACAM5	1048	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	19	42225041	42225041	+	Silent	SNP	C	C	G	rs149056934		TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr19:42225041C>G	ENST00000221992.6	+	8	2085	c.1971C>G	c.(1969-1971)gtC>gtG	p.V657V	CEACAM5_ENST00000398599.4_Silent_p.V656V|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Silent_p.V657V	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	657	Ig-like 7.				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)		CCTGTTTTGTCTCTAACTTGG	0.463																																																0													155	128	137					19																	42225041		2203	4300	6503	SO:0001819	synonymous_variant	1048			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.1971C>G	19.37:g.42225041C>G			H9KVA7	Silent	SNP	ENST00000221992.6	37	CCDS12584.1	.	.	.	.	.	.	.	.	.	.	C	1.104	-0.660214	0.03454	.	.	ENSG00000105388	ENST00000398599	.	.	.	2.3	1.17	0.20885	.	.	.	.	.	T	0.31513	0.0799	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23833	-1.0177	4	.	.	.	.	6.6464	0.22936	0.0:0.6999:0.3001:0.0	.	.	.	.	V	653	.	.	L	+	1	0	CEACAM5	46916881	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.276000	0.18716	0.466000	0.27193	0.467000	0.42956	CTC		0.463	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363		G	42225041	C	G	42225041	2	3	732	1	0	0	0	0	0	0	0	1	3197	900	32	4		4	CEACAM5	19	42225041	Silent	SNP	C	TCGA-KN-8426-01A-11D-2310-10	1221607	42225041	16903942	77	41277											
ZNF155	7711	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	19	44500350	44500350	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr19:44500350C>T	ENST00000270014.2	+	5	469	c.341C>T	c.(340-342)tCt>tTt	p.S114F	RP11-15A1.7_ENST00000586860.1_RNA|ZNF155_ENST00000590615.1_Missense_Mutation_p.S114F|ZNF155_ENST00000407951.2_Missense_Mutation_p.S125F|RP11-15A1.7_ENST00000589021.1_RNA	NM_001260487.1|NM_198089.2	NP_001247416|NP_932355	Q12901	ZN155_HUMAN	zinc finger protein 155	114					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)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				TTAACCAGGTCTCAGGACTCT	0.448																																					NSCLC(61;554 1277 20909 42067 42312)											0													77	78	77					19																	44500350		2203	4300	6503	SO:0001583	missense	7711			U09852	CCDS12634.1, CCDS58668.1	19q13.2-q13.32	2013-01-08	2006-08-22			ENSG00000204920		"Zinc fingers, C2H2-type", "-"	12940	protein-coding gene	gene with protein product		604086	"zinc finger protein 155 (pHZ-96)"			7557990	Standard	NM_001260486		Approved	pHZ-96	uc010xwt.2	Q12901		ENST00000270014.2:c.341C>T	19.37:g.44500350C>T	ENSP00000270014:p.Ser114Phe		A2BDE6|B2RB63|B4DM95|J3KQ08|Q6AZZ8|Q9UIE1|Q9UK14	Missense_Mutation	SNP	ENST00000270014.2	37	CCDS12634.1	.	.	.	.	.	.	.	.	.	.	C	0.352	-0.944372	0.02322	.	.	ENSG00000204920	ENST00000407951;ENST00000270014	T;T	0.06218	3.36;3.33	2.23	-4.46	0.03536	.	.	.	.	.	T	0.02304	0.0071	N	0.11255	0.115	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.002	T	0.45948	-0.9226	9	0.14252	T	0.57	.	1.8656	0.03198	0.1271:0.3627:0.2911:0.219	.	125;114	B4DM95;Q12901	.;ZN155_HUMAN	F	125;114	ENSP00000385163:S125F;ENSP00000270014:S114F	ENSP00000270014:S114F	S	+	2	0	ZNF155	49192190	0.000000	0.05858	0.000000	0.03702	0.178000	0.23041	-1.034000	0.03567	-1.407000	0.02043	0.462000	0.41574	TCT		0.448	ZNF155-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000460074.1	NM_003445		T	44500350	C	T	44500350	3	4	732	1	0	0	0	0	1	0	0	0	17741	913	32	2	355	2	ZNF155	19	44500350	Missense_Mutation	SNP	C	TCGA-KN-8426-01A-11D-2310-10	2275309	44500350	14628633	78	41278											
LAIR1	3903	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	19	54875936	54875936	+	Splice_Site	SNP	C	C	T			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr19:54875936C>T	ENST00000391742.2	-	2	188	c.36G>A	c.(34-36)gtG>gtA	p.V12V	LAIR1_ENST00000463489.1_5'UTR|LAIR1_ENST00000391743.3_Intron|LAIR1_ENST00000313038.6_Splice_Site_p.V6V|LAIR1_ENST00000348231.4_Splice_Site_p.V12V|LAIR1_ENST00000474878.1_Splice_Site_p.V12V|LAIR1_ENST00000434277.2_Splice_Site_p.V12V			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1	12					immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		CCAGGCAGAGCACTGGAAGAG	0.612																																																0													76	70	72					19																	54875936		2203	4300	6503	SO:0001630	splice_region_variant	3903			AF013249	CCDS12891.1, CCDS12892.1, CCDS74448.1, CCDS74449.1, CCDS74450.1	19q13.4	2013-01-29	2006-03-23		ENSG00000167613	ENSG00000167613		"Leukocyte-associated Ig like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6477	protein-coding gene	gene with protein product		602992	"leukocyte-associated Ig-like receptor 1"			9285412	Standard	XM_005258924		Approved	CD305	uc002qfk.1	Q6GTX8	OTTHUMG00000065545	ENST00000391742.2:c.35-1G>A	19.37:g.54875936C>T				Silent	SNP	ENST00000391742.2	37	CCDS12891.1																																																																																				0.612	LAIR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140506.1		Silent	T	54875936	C	T	54875936	5	4	732	1	0	0	0	0	0	0	1	0	8604	724	25	2	863	2	LAIR1	19	54875936	Splice_Site	SNP	C	TCGA-KN-8426-01A-11D-2310-10	10375586	54875936	4253047	79	41279											
FAM83D	81610	ucsc.edu	37	20	37555032	37555032	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr20:37555032A>G	ENST00000217429.4	+	1	78	c.37A>G	c.(37-39)Aag>Gag	p.K13E		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	0					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)				GTTGCCTATAAAGCGGGACTG	0.657											OREG0025936	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													22	26	25					20																	37555032		1874	4097	5971	SO:0001583	missense	81610			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.37A>G	20.37:g.37555032A>G	ENSP00000217429:p.Lys13Glu	871	B4E1I7|Q5THR2|Q68EN1|Q6P457|Q7Z6H0|Q96DF5|Q96N89|Q9BVM8	Missense_Mutation	SNP	ENST00000217429.4	37	CCDS42872.1	.	.	.	.	.	.	.	.	.	.	A	15.23	2.773002	0.49680	.	.	ENSG00000101447	ENST00000217429	T	0.12774	2.65	4.54	4.54	0.55810	.	2.012680	0.03311	N	0.190501	T	0.15522	0.0374	.	.	.	0.21740	N	0.999564	.	.	.	.	.	.	T	0.23619	-1.0183	7	0.36615	T	0.2	.	8.6845	0.34229	0.8302:0.0:0.0:0.1698	.	.	.	.	E	13	ENSP00000217429:K13E	ENSP00000217429:K13E	K	+	1	0	FAM83D	36988446	.	.	0.944000	0.38274	0.040000	0.13550	.	.	1.907000	0.55213	0.379000	0.24179	AAG		0.657	FAM83D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079211.1			G	37555032	A	G	37555032	3	3	732	1	0	0	0	0	1	0	0	0	5638	15	1	3	39	3	FAM83D	20	37555032	Missense_Mutation	SNP	A	TCGA-KN-8426-01A-11D-2310-10		37555032	25470488	80	41280											
MYH9	4627	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	22	36697638	36697638	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr22:36697638C>T	ENST00000216181.5	-	21	2803	c.2573G>A	c.(2572-2574)aGa>aAa	p.R858K		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	858					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						CTGCTTCTCTCTGACCTTCAC	0.617			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated		OREG0026520	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											Dom	yes		22	22q13.1	4627	"myosin, heavy polypeptide 9, non-muscle"	yes	L	0													162	113	130					22																	36697638		2202	4300	6502	SO:0001583	missense	4627	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"Myosins / Myosin superfamily : Class II"	7579	protein-coding gene	gene with protein product	"nonmuscle myosin heavy chain II-A"	160775	"myosin, heavy polypeptide 9, non-muscle"	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.2573G>A	22.37:g.36697638C>T	ENSP00000216181:p.Arg858Lys	864	A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.347139	0.24426	.	.	ENSG00000100345	ENST00000337818;ENST00000216181	D	0.81499	-1.5	5.78	4.56	0.56223	.	0.176467	0.46442	D	0.000300	T	0.46210	0.1381	N	0.01624	-0.795	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.55140	-0.8187	10	0.02654	T	1	.	4.3193	0.11009	0.0:0.701:0.0:0.299	.	858	P35579	MYH9_HUMAN	K	722;858	ENSP00000216181:R858K	ENSP00000216181:R858K	R	-	2	0	MYH9	35027584	0.984000	0.35163	0.958000	0.39756	0.962000	0.63368	2.570000	0.45981	2.894000	0.99253	0.655000	0.94253	AGA		0.617	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		T	36697638	C	T	36697638	3	4	732	1	0	0	0	0	1	0	0	0	10044	913	32	2	3393	2	MYH9	22	36697638	Missense_Mutation	SNP	C	TCGA-KN-8426-01A-11D-2310-10		36697638	14606928	81	41281											
TNRC6B	23112	broad.mit.edu	37	22	40552184	40552184	+	Silent	SNP	A	A	G			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr22:40552184A>G	ENST00000301923.9	+	4	413	c.111A>G	c.(109-111)aaA>aaG	p.K37K	TNRC6B_ENST00000402203.1_Silent_p.K37K	NM_001024843.1	NP_001020014.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	0	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						AAGAAAGCAAACAGTGAGTCA	0.448																																																0													62	59	60					22																	40552184		1939	4160	6099	SO:0001819	synonymous_variant	23112			AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"Trinucleotide (CAG) repeat containing"	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000301923.9:c.111A>G	22.37:g.40552184A>G			B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Silent	SNP	ENST00000301923.9	37	CCDS46712.1																																																																																				0.448	TNRC6B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321393.1			G	40552184	A	G	40552184	2	3	732	1	0	0	0	0	0	0	0	1	16346	40	2	3		3	TNRC6B	22	40552184	Silent	SNP	A	TCGA-KN-8426-01A-11D-2310-10	3854546	40552184	10752382	82	41282											
DNAJB7	150353	ucsc.edu;mdanderson.org;bcgsc.ca	37	22	41257713	41257713	+	Missense_Mutation	SNP	C	C	A			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr22:41257713C>A	ENST00000307221.4	-	1	417	c.286G>T	c.(286-288)Gtt>Ttt	p.V96F	XPNPEP3_ENST00000544094.1_5'Flank|XPNPEP3_ENST00000482652.1_3'UTR|XPNPEP3_ENST00000357137.4_Intron|XPNPEP3_ENST00000414396.1_Intron|XPNPEP3_ENST00000541156.1_Intron	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 7	96							chaperone binding (GO:0051087)			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						TCTTTAAAAACATCATCTGGC	0.378																																																0													100	101	100					22																	41257713		2203	4300	6503	SO:0001583	missense	150353			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.286G>T	22.37:g.41257713C>A	ENSP00000307197:p.Val96Phe		Q2M220|Q5H904|Q8WYJ7	Missense_Mutation	SNP	ENST00000307221.4	37	CCDS14008.1	.	.	.	.	.	.	.	.	.	.	C	12.24	1.880043	0.33162	.	.	ENSG00000172404	ENST00000307221	T	0.79554	-1.28	4.7	1.53	0.23141	.	0.000000	0.48767	D	0.000178	D	0.84297	0.5441	M	0.90483	3.12	0.80722	D	1	P	0.38420	0.63	P	0.44561	0.453	D	0.83658	0.0159	10	0.72032	D	0.01	.	8.6484	0.34020	0.0:0.7435:0.0:0.2565	.	96	Q7Z6W7	DNJB7_HUMAN	F	96	ENSP00000307197:V96F	ENSP00000307197:V96F	V	-	1	0	DNAJB7	39587659	0.310000	0.24527	0.958000	0.39756	0.006000	0.05464	0.405000	0.21015	0.478000	0.27488	-0.218000	0.12543	GTT		0.378	DNAJB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321765.1	NM_145174		A	41257713	C	A	41257713	3	1	732	1	0	0	0	0	1	0	0	0	4627	478	17	4	647	4	DNAJB7	22	41257713	Missense_Mutation	SNP	C	TCGA-KN-8426-01A-11D-2310-10	705529	41257713	10046853	83	41283											
PHKA1	5255	broad.mit.edu	37	X	71925084	71925084	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chrX:71925084T>C	ENST00000373542.4	-	3	407	c.248A>G	c.(247-249)aAg>aGg	p.K83R	PHKA1_ENST00000339490.3_Missense_Mutation_p.K83R|PHKA1_ENST00000373539.3_Missense_Mutation_p.K83R|PHKA1_ENST00000541944.1_Missense_Mutation_p.K83R|PHKA1_ENST00000373545.3_Missense_Mutation_p.K83R|PHKA1-AS1_ENST00000420998.1_RNA	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	83					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					TCTCATCAGCTTCACTACACT	0.393																																																0													148	119	129					X																	71925084		2203	4300	6503	SO:0001583	missense	5255				CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.248A>G	X.37:g.71925084T>C	ENSP00000362643:p.Lys83Arg		B7ZL05|B7ZL07|Q2M3D7	Missense_Mutation	SNP	ENST00000373542.4	37	CCDS14421.1	.	.	.	.	.	.	.	.	.	.	t	20.8	4.047418	0.75846	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000541944;ENST00000339490;ENST00000373539	D;D;D;D;D	0.90676	-2.71;-2.71;-2.71;-2.71;-2.71	3.85	3.85	0.44370	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);Glycoside hydrolase 15-related (1);	0.106591	0.64402	D	0.000006	D	0.95133	0.8423	M	0.88512	2.96	0.58432	D	0.999999	D;P;D	0.76494	0.999;0.918;0.997	D;P;D	0.79784	0.987;0.834;0.993	D	0.95033	0.8171	10	0.66056	D	0.02	-30.5936	9.9189	0.41453	0.0:0.0:0.0:1.0	.	83;83;83	B7ZL07;P46020-2;P46020	.;.;KPB1_HUMAN	R	83	ENSP00000362646:K83R;ENSP00000362643:K83R;ENSP00000441251:K83R;ENSP00000342469:K83R;ENSP00000362640:K83R	ENSP00000342469:K83R	K	-	2	0	PHKA1	71841809	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.689000	0.84165	1.531000	0.49152	0.433000	0.28618	AAG		0.393	PHKA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058896.1			C	71925084	T	C	71925084	3	2	732	1	0	0	0	0	1	0	0	0	11845	1609	56	3	3543	3	PHKA1	23	71925084	Missense_Mutation	SNP	T	TCGA-KN-8426-01A-11D-2310-10		71925084	83345476	84	41284											
RLIM	51132	mdanderson.org	37	X	73811695	73811695	+	Silent	SNP	A	A	G	rs374955178		TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chrX:73811695A>G	ENST00000332687.6	-	4	1673	c.1455T>C	c.(1453-1455)agT>agC	p.S485S	RLIM_ENST00000349225.2_Silent_p.S485S	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	485	Ser-rich.				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						TAGTTTCTGAACTTTCACCAc	0.493																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)											0													35	32	33					X																	73811695		2203	4300	6503	SO:0001819	synonymous_variant	51132			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.1455T>C	X.37:g.73811695A>G			B2RBQ1|D3DTE0|Q96D38|Q9Y598	Silent	SNP	ENST00000332687.6	37	CCDS14427.1																																																																																				0.493	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		G	73811695	A	G	73811695	2	3	732	1	0	0	0	0	0	0	0	1	13396	40	2	3		3	RLIM	23	73811695	Silent	SNP	A	TCGA-KN-8426-01A-11D-2310-10	1886611	73811695	81458865	85	41285			2	96		4	3	67	N	G_C_A	1.812788e-08
RLIM	51132	mdanderson.org	37	X	73811739	73811739	+	Missense_Mutation	SNP	A	A	G	rs201164156		TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chrX:73811739A>G	ENST00000332687.6	-	4	1629	c.1411T>C	c.(1411-1413)Tca>Cca	p.S471P	RLIM_ENST00000349225.2_Missense_Mutation_p.S471P	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	471	Poly-Ser.|Ser-rich.				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						ctggaacttgaactggaactg	0.483																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)											0																																										SO:0001583	missense	51132			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.1411T>C	X.37:g.73811739A>G	ENSP00000328059:p.Ser471Pro		B2RBQ1|D3DTE0|Q96D38|Q9Y598	Missense_Mutation	SNP	ENST00000332687.6	37	CCDS14427.1	.	.	.	.	.	.	.	.	.	.	A	0	-2.619369	0.00118	.	.	ENSG00000131263	ENST00000332687;ENST00000349225	D;D	0.85258	-1.96;-1.96	1.66	0.0881	0.14453	.	0.638142	0.11946	U	0.514165	T	0.59032	0.2164	N	0.08118	0	0.09310	N	1	P	0.44734	0.842	B	0.29267	0.1	T	0.56607	-0.7951	10	0.34782	T	0.22	-0.2213	3.7245	0.08469	0.5962:0.4038:0.0:0.0	.	471	Q9NVW2	RNF12_HUMAN	P	471	ENSP00000328059:S471P;ENSP00000253571:S471P	ENSP00000328059:S471P	S	-	1	0	RLIM	73728464	0.991000	0.36638	0.012000	0.15200	0.011000	0.07611	0.068000	0.14531	0.675000	0.31264	0.441000	0.28932	TCA		0.483	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		G	73811739	A	G	73811739	3	3	732	1	0	0	0	0	1	0	0	0	13396	246	9	3	467	3	RLIM	23	73811739	Missense_Mutation	SNP	A	TCGA-KN-8426-01A-11D-2310-10	44	73811739	81458821	86	41286			2	96		4	3	67	N	G_C_A	1.812788e-08
RLIM	51132	mdanderson.org	37	X	73811755	73811755	+	Silent	SNP	C	C	G	rs7883332	byFrequency	TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chrX:73811755C>G	ENST00000332687.6	-	4	1613	c.1395G>C	c.(1393-1395)tcG>tcC	p.S465S	RLIM_ENST00000349225.2_Silent_p.S465S	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	465	Poly-Ser.|Ser-rich.				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						aactggaactcgaactggaac	0.463													t|||	47	0.0124503	0.0265	0.0029	3775	,	,		15935	0.0		0.006	False		,,,				2504	0.0041				Esophageal Squamous(169;1899 1923 14997 18818 32118)											0													43	43	43					X																	73811755		2203	4300	6503	SO:0001819	synonymous_variant	51132			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.1395G>C	X.37:g.73811755C>G			B2RBQ1|D3DTE0|Q96D38|Q9Y598	Silent	SNP	ENST00000332687.6	37	CCDS14427.1																																																																																				0.463	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		G	73811755	C	G	73811755	2	3	732	1	0	0	0	0	0	0	0	1	13396	871	31	4		4	RLIM	23	73811755	Silent	SNP	C	TCGA-KN-8426-01A-11D-2310-10	16	73811755	81458805	87	41287	381	2	2	96		4	3	67	N	G_C_A	1.812788e-08
RLIM	51132	mdanderson.org	37	X	73811761	73811761	+	Silent	SNP	G	G	T			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chrX:73811761G>T	ENST00000332687.6	-	4	1607	c.1389C>A	c.(1387-1389)tcC>tcA	p.S463S	RLIM_ENST00000349225.2_Silent_p.S463S	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	463	Poly-Ser.|Ser-rich.				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						aactcgaactggaactggaac	0.473																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)											0													46	46	46					X																	73811761		2203	4300	6503	SO:0001819	synonymous_variant	51132			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.1389C>A	X.37:g.73811761G>T			B2RBQ1|D3DTE0|Q96D38|Q9Y598	Silent	SNP	ENST00000332687.6	37	CCDS14427.1																																																																																				0.473	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		T	73811761	G	T	73811761	2	4	732	1	0	0	0	0	0	0	0	1	13396	1335	47	4		4	RLIM	23	73811761	Silent	SNP	G	TCGA-KN-8426-01A-11D-2310-10	6	73811761	81458799	88	41288	381	2	2	96		4	3	67	N	G_C_A	1.812788e-08
RGAG1	57529	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	X	109696984	109696984	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chrX:109696984G>T	ENST00000465301.2	+	3	3385	c.3139G>T	c.(3139-3141)Gcc>Tcc	p.A1047S	RGAG1_ENST00000540313.1_Missense_Mutation_p.A1047S	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	1047										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						ACTACCAAGAGCCACAGCCTC	0.547																																																0													84	80	82					X																	109696984		2203	4300	6503	SO:0001583	missense	57529			AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.3139G>T	X.37:g.109696984G>T	ENSP00000419786:p.Ala1047Ser		Q9P2M8	Missense_Mutation	SNP	ENST00000465301.2	37	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	G	7.001	0.554883	0.13436	.	.	ENSG00000243978	ENST00000465301;ENST00000540313;ENST00000540483	T;T	0.55052	0.54;0.54	4.41	-0.846	0.10734	.	.	.	.	.	T	0.37100	0.0991	L	0.47716	1.5	0.09310	N	1	B	0.33171	0.4	B	0.33960	0.173	T	0.25537	-1.0129	8	.	.	.	-0.5503	0.8352	0.01138	0.3054:0.2935:0.2499:0.1512	.	1047	Q8NET4	RGAG1_HUMAN	S	1047;1047;608	ENSP00000419786:A1047S;ENSP00000441452:A1047S	.	A	+	1	0	RGAG1	109583640	0.000000	0.05858	0.017000	0.16124	0.821000	0.46438	0.204000	0.17335	-0.325000	0.08577	0.600000	0.82982	GCC		0.547	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		T	109696984	G	T	109696984	3	4	732	1	0	0	0	0	1	0	0	0	13280	971	34	4	3141	4	RGAG1	23	109696984	Missense_Mutation	SNP	G	TCGA-KN-8426-01A-11D-2310-10	35885223	109696984	45573576	89	41289											
FLNA	2316	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	X	153588714	153588714	+	Missense_Mutation	SNP	A	A	T			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chrX:153588714A>T	ENST00000369850.3	-	22	3685	c.3449T>A	c.(3448-3450)tTc>tAc	p.F1150Y	FLNA_ENST00000360319.4_Missense_Mutation_p.F1150Y|FLNA_ENST00000422373.1_Missense_Mutation_p.F1150Y|FLNA_ENST00000344736.4_Missense_Mutation_p.F1150Y|FLNA_ENST00000369856.3_5'Flank	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1150					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)					GTGGGCCTTGAATGGGGAGCC	0.617											OREG0003593	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																				0													62	73	69					X																	153588714		2145	4213	6358	SO:0001583	missense	2316			X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"actin binding protein 280"	300017	"filamin A, alpha (actin binding protein 280)"	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.3449T>A	X.37:g.153588714A>T	ENSP00000358866:p.Phe1150Tyr	1756	E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.958476	0.74016	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.86432	-2.12;-2.12;-2.12;-2.12	4.92	4.92	0.64577	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000006	D	0.93135	0.7814	M	0.80422	2.495	0.80722	D	1	P;D	0.89917	0.7;1.0	D;D	0.87578	0.91;0.998	D	0.93663	0.6983	10	0.59425	D	0.04	.	13.8267	0.63354	1.0:0.0:0.0:0.0	.	1150;1150	P21333-2;P21333	.;FLNA_HUMAN	Y	1150;1123;1150;1150;1150	ENSP00000353467:F1150Y;ENSP00000416926:F1150Y;ENSP00000358866:F1150Y;ENSP00000358863:F1150Y	ENSP00000358863:F1150Y	F	-	2	0	FLNA	153241908	1.000000	0.71417	0.998000	0.56505	0.818000	0.46254	7.383000	0.79741	1.640000	0.50565	0.427000	0.28365	TTC		0.617	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			T	153588714	A	T	153588714	3	4	732	1	0	0	0	0	1	0	0	0	5935	246	9	5	4602	5	FLNA	23	153588714	Missense_Mutation	SNP	A	TCGA-KN-8426-01A-11D-2310-10	43891730	153588714	1681846	90	41290											
IL9R	3581	mdanderson.org	37	X	155239602	155239602	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chrX:155239602G>A	ENST00000244174.5	+	9	1273	c.1094G>A	c.(1093-1095)cGt>cAt	p.R365H	IL9R_ENST00000540897.1_3'UTR|IL9R_ENST00000369423.2_3'UTR|IL9R_ENST00000424344.3_Missense_Mutation_p.R344H	NM_002186.2	NP_002177.2	Q01113	IL9R_HUMAN	interleukin 9 receptor	365			R -> H (in dbSNP:rs2228650).		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)					GGCCCAGCGCGTCCTTGGAAA	0.662																																																0													42	70	62					X																	155239602		1941	4257	6198	SO:0001583	missense	3581			M84747	CCDS14771.4, CCDS59180.1	Xq28 and Yq12	2008-02-05			ENSG00000124334	ENSG00000124334		"Pseudoautosomal regions / PAR2", "Interleukins and interleukin receptors", "CD molecules"	6030	protein-coding gene	gene with protein product		300007				1376929, 8666384	Standard	NM_002186		Approved	CD129	uc004fnv.1	Q01113	OTTHUMG00000022720	ENST00000244174.5:c.1094G>A	X.37:g.155239602G>A	ENSP00000244174:p.Arg365His		B9ZVT0|Q14634|Q8WWU1|Q96TF0	Missense_Mutation	SNP	ENST00000244174.5	37	CCDS14771.4	130	0.05952380952380952	42	0.08536585365853659	11	0.03038674033149171	50	0.08741258741258741	27	0.03562005277044855	N	0.057	-1.234707	0.01505	.	.	ENSG00000124334	ENST00000244174;ENST00000424344	T;T	0.10099	2.91;2.91	1.44	0.201	0.15186	.	5.140280	0.00520	N	0.000181	T	0.00241	0.0007	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32481	-0.9905	9	0.13470	T	0.59	-9.2578	3.2156	0.06697	0.7419:0.0:0.2581:0.0	.	365	Q01113	IL9R_HUMAN	H	365;344	ENSP00000244174:R365H;ENSP00000388918:R344H	ENSP00000244174:R365H	R	+	2	0	IL9R	154892796	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.579000	0.05834	-0.003000	0.14444	-1.144000	0.01866	CGT		0.662	IL9R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058981.1	NM_002186		A	155239602	G	A	155239602	3	1	732	1	0	0	0	0	1	0	0	0	7710	1145	40	1	1128	1	IL9R	23	155239602	Missense_Mutation	SNP	G	TCGA-KN-8426-01A-11D-2310-10	1650888	155239602	30958	91	41291											
EXOSC10	5394	bcgsc.ca	37	1	11151122	11151122	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr1:11151122A>G	ENST00000376936.4	-	5	641	c.592T>C	c.(592-594)Ttt>Ctt	p.F198L	EXOSC10_ENST00000304457.7_Missense_Mutation_p.F198L|EXOSC10_ENST00000544779.1_Missense_Mutation_p.F198L	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10	198					CUT catabolic process (GO:0071034)|dosage compensation by inactivation of X chromosome (GO:0009048)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear retention of unspliced pre-mRNA at the site of transcription (GO:0071048)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5' exonuclease activity (GO:0008408)|exoribonuclease activity (GO:0004532)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		TTAGGAAGAAATGGTGTGTTG	0.393																																					Colon(179;105 1987 14326 27364 29542)											0													278	274	275					1																	11151122		2203	4300	6503	SO:0001583	missense	5394			BC073788	CCDS126.1, CCDS30584.1	1p36.22	2008-02-05	2004-06-16	2004-06-18	ENSG00000171824	ENSG00000171824			9138	protein-coding gene	gene with protein product	"polymyositis/scleroderma autoantigen 2 (100kD)"	605960	"polymyositis/scleroderma autoantigen 2, 100kDa"	PMSCL2		1383382, 1644924	Standard	NM_001001998		Approved	PM-Scl, PM/Scl-100, Rrp6p, RRP6, p2, p3, p4	uc001asa.3	Q01780	OTTHUMG00000002123	ENST00000376936.4:c.592T>C	1.37:g.11151122A>G	ENSP00000366135:p.Phe198Leu		B1AKQ0|B1AKQ1|Q15158	Missense_Mutation	SNP	ENST00000376936.4	37	CCDS30584.1	.	.	.	.	.	.	.	.	.	.	A	35	5.561878	0.96527	.	.	ENSG00000171824	ENST00000376936;ENST00000304457;ENST00000544779	.	.	.	5.73	5.73	0.89815	Ribonuclease H-like (1);	0.045838	0.85682	D	0.000000	D	0.85835	0.5789	M	0.92169	3.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.991	D	0.89086	0.3479	9	0.72032	D	0.01	-20.0071	15.4929	0.75624	1.0:0.0:0.0:0.0	.	198;198	Q01780-2;Q01780	.;EXOSX_HUMAN	L	198	.	ENSP00000307307:F198L	F	-	1	0	EXOSC10	11073709	1.000000	0.71417	0.916000	0.36221	0.994000	0.84299	9.062000	0.93920	2.308000	0.77769	0.533000	0.62120	TTT		0.393	EXOSC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006078.1	NM_001001998		G	11151122	A	G	11151122	3	3	733	1	0	0	0	0	1	0	0	0	5316	101	4	3	2149	3	EXOSC10	1	11151122	Missense_Mutation	SNP	A	TCGA-KN-8427-01A-11D-2310-10		11151122	238099499	1	41292											
SPEN	23013	hgsc.bcm.edu;ucsc.edu	37	1	16256119	16256119	+	Silent	SNP	C	C	T	rs140864111	byFrequency	TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr1:16256119C>T	ENST00000375759.3	+	11	3588	c.3384C>T	c.(3382-3384)gaC>gaT	p.D1128D		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1128					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)		AGAGAGAAGACGTTAGGAAAA	0.398													C|||	2	0.000399361	0.0015	0.0	5008	,	,		22161	0.0		0.0	False		,,,				2504	0.0															0								C		9,4397	15.5+/-35.6	0,9,2194	38	39	39		3384	-2.2	0.2	1	dbSNP_134	39	0,8600		0,0,4300	no	coding-synonymous	SPEN	NM_015001.2		0,9,6494	TT,TC,CC		0.0,0.2043,0.0692		1128/3665	16256119	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.3384C>T	1.37:g.16256119C>T			Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Silent	SNP	ENST00000375759.3	37	CCDS164.1																																																																																				0.398	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		T	16256119	C	T	16256119	2	4	733	1	0	0	0	0	0	0	0	1	15043	535	19	1		1	SPEN	1	16256119	Silent	SNP	C	TCGA-KN-8427-01A-11D-2310-10	5104997	16256119	232994502	2	41293											
CSMD2	114784	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	1	34209065	34209065	+	Silent	SNP	A	A	G			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr1:34209065A>G	ENST00000373381.4	-	14	2165	c.1989T>C	c.(1987-1989)atT>atC	p.I663I		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	623	CUB 4. {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)				GCTCCACGTCAATGTCGTTGA	0.602																																																0													84	85	85					1																	34209065		2203	4300	6503	SO:0001819	synonymous_variant	114784			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.1989T>C	1.37:g.34209065A>G			B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373381.4	37																																																																																					0.602	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		G	34209065	A	G	34209065	2	3	733	1	0	0	0	0	0	0	0	1	3947	126	5	3		3	CSMD2	1	34209065	Silent	SNP	A	TCGA-KN-8427-01A-11D-2310-10	17952946	34209065	215041556	3	41294											
CYP4X1	260293	bcgsc.ca	37	1	47498964	47498964	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr1:47498964T>C	ENST00000371901.3	+	4	666	c.416T>C	c.(415-417)cTa>cCa	p.L139P	CYP4X1_ENST00000538609.1_Missense_Mutation_p.L138P	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	139						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						CATCGTCGCCTACTAACTCCT	0.428																																																0													129	109	116					1																	47498964		2203	4300	6503	SO:0001583	missense	260293			AK091806	CCDS544.1	1p33	2008-02-05			ENSG00000186377	ENSG00000186377		"Cytochrome P450s"	20244	protein-coding gene	gene with protein product		614999				12176035	Standard	NM_178033		Approved	MGC40051	uc001cqt.3	Q8N118	OTTHUMG00000008017	ENST00000371901.3:c.416T>C	1.37:g.47498964T>C	ENSP00000360968:p.Leu139Pro		G3V1U1|Q5VVE5|Q6ZN67|Q8NAZ3	Missense_Mutation	SNP	ENST00000371901.3	37	CCDS544.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.117048	0.77323	.	.	ENSG00000186377	ENST00000538609;ENST00000371901	T;T	0.71579	-0.58;-0.58	5.91	5.91	0.95273	.	0.072152	0.56097	D	0.000024	D	0.88273	0.6392	M	0.93763	3.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	D	0.91184	0.4978	10	0.87932	D	0	.	16.0082	0.80377	0.0:0.0:0.0:1.0	.	139;138	Q8N118;G3V1U1	CP4X1_HUMAN;.	P	138;139	ENSP00000445965:L138P;ENSP00000360968:L139P	ENSP00000360968:L139P	L	+	2	0	CYP4X1	47271551	0.997000	0.39634	0.430000	0.26722	0.672000	0.39443	7.370000	0.79589	2.262000	0.75019	0.482000	0.46254	CTA		0.428	CYP4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022017.1	NM_178033		C	47498964	T	C	47498964	3	2	733	1	0	0	0	0	1	0	0	0	4195	1522	53	3	430	3	CYP4X1	1	47498964	Missense_Mutation	SNP	T	TCGA-KN-8427-01A-11D-2310-10	13289899	47498964	201751657	4	41295											
SYT6	148281	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	114680520	114680520	+	Missense_Mutation	SNP	T	T	G			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr1:114680520T>G	ENST00000610222.1	-	3	814	c.668A>C	c.(667-669)aAg>aCg	p.K223T	SYT6_ENST00000609117.1_Missense_Mutation_p.K138T|SYT6_ENST00000393296.1_Missense_Mutation_p.K223T|SYT6_ENST00000369547.1_Missense_Mutation_p.K138T|SYT6_ENST00000607941.1_Missense_Mutation_p.K138T			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	223					acrosomal vesicle exocytosis (GO:0060478)	cell junction (GO:0030054)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	clathrin binding (GO:0030276)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGCCTCAGACTTGGCATCCTC	0.557																																																0													134	115	121					1																	114680520		2203	4300	6503	SO:0001583	missense	148281				CCDS871.1	1p13.1	2013-01-21			ENSG00000134207	ENSG00000134207		"Synaptotagmins"	18638	protein-coding gene	gene with protein product		607718				11543631	Standard	NM_205848		Approved		uc021orz.1	Q5T7P8	OTTHUMG00000011755	ENST00000610222.1:c.668A>C	1.37:g.114680520T>G	ENSP00000476396:p.Lys223Thr		B1AMB8|B3KPK1	Missense_Mutation	SNP	ENST00000610222.1	37		.	.	.	.	.	.	.	.	.	.	T	15.72	2.917199	0.52546	.	.	ENSG00000134207	ENST00000369547;ENST00000393296;ENST00000369546;ENST00000369545	T;T;T;T	0.08193	3.12;3.12;3.12;3.12	5.56	5.56	0.83823	C2 calcium/lipid-binding domain, CaLB (1);	0.098347	0.64402	D	0.000002	T	0.04092	0.0114	L	0.39633	1.23	0.80722	D	1	B	0.13594	0.008	B	0.16289	0.015	T	0.30268	-0.9984	10	0.33940	T	0.23	.	15.72	0.77700	0.0:0.0:0.0:1.0	.	223	Q5T7P8	SYT6_HUMAN	T	138;223;138;223	ENSP00000358560:K138T;ENSP00000376974:K223T;ENSP00000358559:K138T;ENSP00000358558:K223T	ENSP00000358558:K223T	K	-	2	0	SYT6	114482043	1.000000	0.71417	0.993000	0.49108	0.984000	0.73092	8.017000	0.88712	2.117000	0.64856	0.533000	0.62120	AAG		0.557	SYT6-004	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000314819.2	NM_205848		G	114680520	T	G	114680520	3	3	733	1	0	0	0	0	1	0	0	0	15483	1609	56	5	884	5	SYT6	1	114680520	Missense_Mutation	SNP	T	TCGA-KN-8427-01A-11D-2310-10	67181556	114680520	134570101	5	41296											
NRAS	4893	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	G	T	rs121913254		TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr1:115256530G>T	ENST00000369535.4	-	3	434	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		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.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(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)		TACTCTTCTTGTCCAGCTGTA	0.458	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																													Dom	yes		1	1p13.2	4893	neuroblastoma RAS viral (v-ras) oncogene homolog		"L, E"	610	Substitution - Missense(609)|Complex(1)	skin(372)|haematopoietic_and_lymphoid_tissue(73)|thyroid(55)|NS(29)|large_intestine(28)|soft_tissue(16)|lung(12)|autonomic_ganglia(6)|liver(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|cervix(2)|endometrium(2)|pancreas(2)|meninges(1)|kidney(1)|biliary_tract(1)|stomach(1)|ovary(1)|bone(1)											180	156	164					1																	115256530		2203	4300	6503	SO:0001583	missense	4893	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.181C>A	1.37:g.115256530G>T	ENSP00000358548:p.Gln61Lys		Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	CCDS877.1	.	.	.	.	.	.	.	.	.	.	G	33	5.255564	0.95336	.	.	ENSG00000213281	ENST00000369535	D	0.83506	-1.73	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.91845	0.7419	H	0.95850	3.73	0.80722	D	1	P	0.51791	0.948	P	0.54759	0.76	D	0.93711	0.7024	10	0.62326	D	0.03	.	18.6626	0.91477	0.0:0.0:1.0:0.0	.	61	P01111	RASN_HUMAN	K	61	ENSP00000358548:Q61K	ENSP00000358548:Q61K	Q	-	1	0	NRAS	115058053	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.520000	0.98027	2.624000	0.88883	0.655000	0.94253	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		T	115256530	G	T	115256530	3	4	733	1	0	0	0	0	1	0	0	0	10642	1386	48	4	400	4	NRAS	1	115256530	Missense_Mutation	SNP	G	TCGA-KN-8427-01A-11D-2310-10	576010	115256530	133994091	6	41297											
FLG	2312	mdanderson.org	37	1	152284806	152284806	+	Silent	SNP	C	C	T	rs71625190		TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr1:152284806C>T	ENST00000368799.1	-	3	2591	c.2556G>A	c.(2554-2556)agG>agA	p.R852R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	852	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)			GGGACCCCTGCCTTCCTCTTC	0.602									Ichthyosis																																							0													334	330	331					1																	152284806		2203	4300	6503	SO:0001819	synonymous_variant	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.2556G>A	1.37:g.152284806C>T			Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	CCDS30860.1																																																																																				0.602	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		T	152284806	C	T	152284806	2	4	733	1	0	0	0	0	0	0	0	1	5924	738	26	2		2	FLG	1	152284806	Silent	SNP	C	TCGA-KN-8427-01A-11D-2310-10	37028276	152284806	96965815	7	41298											
CRNN	49860	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	1	152382811	152382811	+	Missense_Mutation	SNP	C	C	A	rs574082627		TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr1:152382811C>A	ENST00000271835.3	-	3	809	c.747G>T	c.(745-747)caG>caT	p.Q249H	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	249	Gln-rich.				response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCTTCCTGTCTGGTGGCTGC	0.597																																																0													243	248	247					1																	152382811		2203	4300	6503	SO:0001583	missense	49860			AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"EF-hand domain containing"	1230	protein-coding gene	gene with protein product		611312	"chromosome 1 open reading frame 10"	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.747G>T	1.37:g.152382811C>A	ENSP00000271835:p.Gln249His		B2RE60|Q8N613	Missense_Mutation	SNP	ENST00000271835.3	37	CCDS1010.1	.	.	.	.	.	.	.	.	.	.	C	11.36	1.616492	0.28801	.	.	ENSG00000143536	ENST00000271835	T	0.05855	3.38	4.83	-2.35	0.06684	.	0.382752	0.22584	N	0.058163	T	0.01156	0.0038	L	0.43152	1.355	0.09310	N	1	P	0.36199	0.543	B	0.32533	0.147	T	0.47711	-0.9096	10	0.23302	T	0.38	.	2.9523	0.05866	0.1338:0.3258:0.386:0.1545	.	249	Q9UBG3	CRNN_HUMAN	H	249	ENSP00000271835:Q249H	ENSP00000271835:Q249H	Q	-	3	2	CRNN	150649435	0.138000	0.22547	0.000000	0.03702	0.229000	0.25112	-0.018000	0.12568	-0.673000	0.05259	0.585000	0.79938	CAG		0.597	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	NM_016190		A	152382811	C	A	152382811	3	1	733	1	0	0	0	0	1	0	0	0	3894	912	32	4	744	4	CRNN	1	152382811	Missense_Mutation	SNP	C	TCGA-KN-8427-01A-11D-2310-10	98005	152382811	96867810	8	41299											
EFNA4	1945	hgsc.bcm.edu;mdanderson.org	37	1	155036407	155036407	+	Silent	SNP	C	C	T			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr1:155036407C>T	ENST00000368409.3	+	1	201	c.108C>T	c.(106-108)aaC>aaT	p.N36N	EFNA4_ENST00000427683.2_Silent_p.N36N|EFNA4_ENST00000359751.4_Silent_p.N36N|EFNA3_ENST00000505139.1_Silent_p.N36N|EFNA3_ENST00000556931.1_Silent_p.N36N	NM_005227.2	NP_005218.1	P52798	EFNA4_HUMAN	ephrin-A4	36	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				axon guidance (GO:0007411)|bone remodeling (GO:0046849)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|osteoclast differentiation (GO:0030316)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|transmembrane-ephrin receptor activity (GO:0005005)			breast(1)|endometrium(1)|large_intestine(1)|ovary(1)	4	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)			ACTCCAGTAACCCCAGGTAGC	0.726																																																0													6	8	7					1																	155036407		2152	4192	6344	SO:0001819	synonymous_variant	1945			AJ006352	CCDS1089.1, CCDS41407.1, CCDS44237.1	1q21-q22	2011-03-09			ENSG00000243364	ENSG00000243364		"Ephrins"	3224	protein-coding gene	gene with protein product		601380		EPLG4		8660976	Standard	NM_182690		Approved	LERK4		P52798	OTTHUMG00000035309	ENST00000368409.3:c.108C>T	1.37:g.155036407C>T			C9JHJ8|G3XAK2|O95457|Q5SR71|Q6FI57	Silent	SNP	ENST00000368409.3	37	CCDS1089.1																																																																																				0.726	EFNA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000085421.2	NM_005227		T	155036407	C	T	155036407	2	4	733	1	0	0	0	0	0	0	0	1	4955	506	18	2		2	EFNA4	1	155036407	Silent	SNP	C	TCGA-KN-8427-01A-11D-2310-10	2653596	155036407	94214214	9	41300											
SPTA1	6708	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	1	158596633	158596633	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr1:158596633C>T	ENST00000368147.4	-	41	6009	c.5829G>A	c.(5827-5829)tgG>tgA	p.W1943*		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1943					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)					TCATACCTATCCAAGCCTCTA	0.453																																																0													124	125	125					1																	158596633		1887	4111	5998	SO:0001587	stop_gained	6708			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.5829G>A	1.37:g.158596633C>T	ENSP00000357129:p.Trp1943*		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Nonsense_Mutation	SNP	ENST00000368147.4	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	47	13.469828	0.99744	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	.	.	.	5.41	5.41	0.78517	.	0.000000	0.30410	N	0.009696	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.9494	0.89047	0.0:1.0:0.0:0.0	.	.	.	.	X	1943;1940	.	ENSP00000357129:W1940X	W	-	3	0	SPTA1	156863257	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	7.089000	0.76909	2.816000	0.96949	0.563000	0.77884	TGG		0.453	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		T	158596633	C	T	158596633	4	4	733	1	0	0	0	0	0	1	0	0	15121	856	30	2	1478	2	SPTA1	1	158596633	Nonsense_Mutation	SNP	C	TCGA-KN-8427-01A-11D-2310-10	3560226	158596633	90653988	10	41301											
COPA	1314	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	1	160275563	160275563	+	Splice_Site	SNP	C	C	G			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr1:160275563C>G	ENST00000241704.7	-	16	1672	c.1443G>C	c.(1441-1443)cgG>cgC	p.R481R	COPA_ENST00000368069.3_Splice_Site_p.R481R	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	481					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ATGCCAGAGTCCTGAGATAGA	0.398																																																0													113	108	110					1																	160275563		2203	4300	6503	SO:0001630	splice_region_variant	1314			U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"WD repeat domain containing", "Endogenous ligands"	2230	protein-coding gene	gene with protein product	"proxenin", "xenin"	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.1443-1G>C	1.37:g.160275563C>G			Q5T201|Q8IXZ9	Silent	SNP	ENST00000241704.7	37	CCDS1202.1																																																																																				0.398	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371	Silent	G	160275563	C	G	160275563	5	3	733	1	0	0	0	0	0	0	1	0	3729	869	30	4	2330	4	COPA	1	160275563	Splice_Site	SNP	C	TCGA-KN-8427-01A-11D-2310-10	1678930	160275563	88975058	11	41302											
GPR161	23432	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	168066296	168066296	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr1:168066296G>T	ENST00000367838.1	-	5	862	c.549C>A	c.(547-549)caC>caA	p.H183Q	GPR161_ENST00000537209.1_Missense_Mutation_p.H203Q|GPR161_ENST00000546300.1_Missense_Mutation_p.H69Q|GPR161_ENST00000367836.1_Missense_Mutation_p.H51Q|GPR161_ENST00000361697.2_Missense_Mutation_p.H183Q|GPR161_ENST00000539777.1_Missense_Mutation_p.H105Q|GPR161_ENST00000367835.1_Missense_Mutation_p.H183Q|GPR161_ENST00000271357.5_Missense_Mutation_p.H183Q	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	183					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					CAGGCTCCCGGTGCCAAGCAG	0.587																																																0													71	57	62					1																	168066296		2203	4300	6503	SO:0001583	missense	23432			AF091890	CCDS1268.1, CCDS58042.1, CCDS58043.1, CCDS58044.1, CCDS58045.1, CCDS72978.1	1q23.3	2012-08-21			ENSG00000143147	ENSG00000143147		"GPCR / Class A : Orphans"	23694	protein-coding gene	gene with protein product		612250				11959142	Standard	NM_153832		Approved	RE2	uc009wvo.4	Q8N6U8	OTTHUMG00000034651	ENST00000367838.1:c.549C>A	1.37:g.168066296G>T	ENSP00000356812:p.His183Gln		B3KV34|B7Z5D7|B7Z5E8|B7Z5Z6|F5GXD6|F5H6J7|O75963|Q5TGK0|Q5TGK1|Q5TGK2	Missense_Mutation	SNP	ENST00000367838.1	37	CCDS1268.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.426971	0.43122	.	.	ENSG00000143147	ENST00000367838;ENST00000271357;ENST00000367836;ENST00000367835;ENST00000546300;ENST00000539777;ENST00000537209;ENST00000361697	T;T;T;T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23;1.23;1.23;1.23	5.07	4.12	0.48240	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.32071	0.0817	L	0.47190	1.495	0.45129	D	0.998149	D;D;D;B;D;D	0.71674	0.976;0.996;0.998;0.356;0.962;0.996	P;P;D;B;B;P	0.64776	0.561;0.852;0.929;0.147;0.253;0.852	T	0.14282	-1.0478	9	0.29301	T	0.29	-32.4148	9.0699	0.36486	0.0784:0.0:0.7731:0.1485	.	203;69;105;203;183;183	F5GXD6;B7Z5E8;F5H6J7;B7Z5Z6;Q8N6U8-2;Q8N6U8	.;.;.;.;.;GP161_HUMAN	Q	183;183;51;183;69;105;203;183	ENSP00000356812:H183Q;ENSP00000271357:H183Q;ENSP00000356810:H51Q;ENSP00000356809:H183Q;ENSP00000444348:H69Q;ENSP00000437576:H105Q;ENSP00000441039:H203Q;ENSP00000355194:H183Q	ENSP00000271357:H183Q	H	-	3	2	GPR161	166332920	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.356000	0.59430	1.207000	0.43291	0.561000	0.74099	CAC		0.587	GPR161-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083829.1	NM_007369		T	168066296	G	T	168066296	3	4	733	1	0	0	0	0	1	0	0	0	6667	1252	44	4	1056	4	GPR161	1	168066296	Missense_Mutation	SNP	G	TCGA-KN-8427-01A-11D-2310-10	7790733	168066296	81184325	12	41303											
FMO3	2328	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	1	171072967	171072967	+	Silent	SNP	C	C	T			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr1:171072967C>T	ENST00000367755.4	+	3	285	c.174C>T	c.(172-174)gtC>gtT	p.V58V	FMO3_ENST00000538429.1_Intron|FMO3_ENST00000392085.2_Silent_p.V58V|FMO3_ENST00000542847.1_Silent_p.V38V|MIR1295A_ENST00000408463.1_RNA	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	58					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)	ACAAATCAGTCTTTTCCAACT	0.423																																																0													169	164	166					1																	171072967		2203	4300	6503	SO:0001819	synonymous_variant	2328			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.174C>T	1.37:g.171072967C>T			B2R816|Q14854|Q8N5N5	Silent	SNP	ENST00000367755.4	37	CCDS1292.1																																																																																				0.423	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086219.1	NM_006894		T	171072967	C	T	171072967	2	4	733	1	0	0	0	0	0	0	0	1	5958	900	32	2		2	FMO3	1	171072967	Silent	SNP	C	TCGA-KN-8427-01A-11D-2310-10	3006671	171072967	78177654	13	41304											
PAPPA2	60676	hgsc.bcm.edu;ucsc.edu	37	1	176709219	176709219	+	Silent	SNP	A	A	C			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr1:176709219A>C	ENST00000367662.3	+	14	5202	c.4038A>C	c.(4036-4038)tcA>tcC	p.S1346S		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1346					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						TGAATTTCTCATCCCCACGGG	0.522																																																0													188	184	185					1																	176709219		2032	4187	6219	SO:0001819	synonymous_variant	60676			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"placenta-specific 3"	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.4038A>C	1.37:g.176709219A>C			A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP	ENST00000367662.3	37	CCDS41438.1																																																																																				0.522	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			C	176709219	A	C	176709219	2	2	733	1	0	0	0	0	0	0	0	1	11435	204	8	5		5	PAPPA2	1	176709219	Silent	SNP	A	TCGA-KN-8427-01A-11D-2310-10	5636252	176709219	72541402	14	41305											
F13B	2165	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	197026583	197026583	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr1:197026583C>T	ENST00000367412.1	-	6	861	c.818G>A	c.(817-819)aGa>aAa	p.R273K		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	273	Sushi 5. {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						AGGAGGACATCTGTTTCTTCT	0.294																																																0													149	129	136					1																	197026583		2203	4300	6503	SO:0001583	missense	2165			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.818G>A	1.37:g.197026583C>T	ENSP00000356382:p.Arg273Lys		A8K3E5|Q5VYL5	Missense_Mutation	SNP	ENST00000367412.1	37	CCDS1388.1	.	.	.	.	.	.	.	.	.	.	C	11.10	1.539171	0.27475	.	.	ENSG00000143278	ENST00000367412	T	0.70399	-0.48	5.65	5.65	0.86999	Complement control module (2);Sushi/SCR/CCP (1);	0.000000	0.29692	N	0.011460	T	0.47875	0.1469	N	0.12920	0.275	0.32124	N	0.587586	B	0.23540	0.087	B	0.28011	0.085	T	0.50268	-0.8848	10	0.06236	T	0.91	.	7.3866	0.26886	0.0:0.801:0.0:0.199	.	273	P05160	F13B_HUMAN	K	273	ENSP00000356382:R273K	ENSP00000356382:R273K	R	-	2	0	F13B	195293206	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	3.294000	0.51787	2.655000	0.90218	0.655000	0.94253	AGA		0.294	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2	NM_001994		T	197026583	C	T	197026583	3	4	733	1	0	0	0	0	1	0	0	0	5343	913	32	2	1195	2	F13B	1	197026583	Missense_Mutation	SNP	C	TCGA-KN-8427-01A-11D-2310-10	20317364	197026583	52224038	15	41306											
TIMM17A	10440	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	1	201934576	201934576	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr1:201934576T>C	ENST00000367287.4	+	5	371	c.335T>C	c.(334-336)aTg>aCg	p.M112T	TIMM17A_ENST00000482943.1_3'UTR	NM_006335.2	NP_006326.1	Q99595	TI17A_HUMAN	translocase of inner mitochondrial membrane 17 homolog A (yeast)	112					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane presequence translocase complex (GO:0005744)	P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)			kidney(1)|lung(3)|stomach(1)	5						CCAGTGGCCATGGTTGGGTCA	0.408																																																0													116	116	116					1																	201934576		2203	4300	6503	SO:0001583	missense	10440			AF106622	CCDS1417.1	1q32.1	2008-05-23			ENSG00000134375	ENSG00000134375			17315	protein-coding gene	gene with protein product		605057				8893850, 10339406	Standard	NM_006335		Approved	TIM17, TIM17A	uc001gxc.3	Q99595	OTTHUMG00000035806	ENST00000367287.4:c.335T>C	1.37:g.201934576T>C	ENSP00000356256:p.Met112Thr		B2RDM5|Q9BWF5	Missense_Mutation	SNP	ENST00000367287.4	37	CCDS1417.1	.	.	.	.	.	.	.	.	.	.	T	17.77	3.470423	0.63625	.	.	ENSG00000134375	ENST00000367287	T	0.32272	1.46	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.43211	0.1237	M	0.65677	2.01	0.80722	D	1	P	0.45634	0.863	P	0.49953	0.627	T	0.32241	-0.9914	10	0.44086	T	0.13	-0.0327	13.5811	0.61903	0.0:0.0:0.0:1.0	.	112	Q99595	TI17A_HUMAN	T	112	ENSP00000356256:M112T	ENSP00000356256:M112T	M	+	2	0	TIMM17A	200201199	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.620000	0.83070	2.151000	0.67156	0.533000	0.62120	ATG		0.408	TIMM17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087092.1	NM_006335		C	201934576	T	C	201934576	3	2	733	1	0	0	0	0	1	0	0	0	15913	1464	51	3	353	3	TIMM17A	1	201934576	Missense_Mutation	SNP	T	TCGA-KN-8427-01A-11D-2310-10	4907993	201934576	47316045	16	41307											
OBSCN	84033	mdanderson.org;bcgsc.ca	37	1	228433197	228433197	+	Missense_Mutation	SNP	G	G	C			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr1:228433197G>C	ENST00000422127.1	+	12	3609	c.3565G>C	c.(3565-3567)Gag>Cag	p.E1189Q	OBSCN_ENST00000570156.2_Missense_Mutation_p.E1281Q|OBSCN_ENST00000284548.11_Missense_Mutation_p.E1189Q|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1189	Ig-like 12.				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)				GCTGAGCTGTGAGGTGGCCCA	0.597																																																0													81	81	81					1																	228433197		2092	4205	6297	SO:0001583	missense	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.3565G>C	1.37:g.228433197G>C	ENSP00000409493:p.Glu1189Gln		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	.	12.34	1.907297	0.33628	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.66995	-0.24;-0.24	4.39	2.32	0.28847	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.133963	0.49305	D	0.000157	T	0.74145	0.3678	L	0.45744	1.44	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.74348	0.963;0.983	T	0.74225	-0.3734	10	0.46703	T	0.11	.	13.6689	0.62412	0.0:0.2958:0.7042:0.0	.	1189;1189	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	Q	1189	ENSP00000284548:E1189Q;ENSP00000409493:E1189Q	ENSP00000284548:E1189Q	E	+	1	0	OBSCN	226499820	1.000000	0.71417	0.959000	0.39883	0.262000	0.26303	3.976000	0.56867	0.822000	0.34565	0.306000	0.20318	GAG		0.597	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		C	228433197	G	C	228433197	3	2	733	1	0	0	0	0	1	0	0	0	10814	1291	45	4	3607	4	OBSCN	1	228433197	Missense_Mutation	SNP	G	TCGA-KN-8427-01A-11D-2310-10	26498621	228433197	20817424	17	41308											
OR2T27	403239	mdanderson.org	37	1	248813271	248813271	+	Silent	SNP	C	C	A	rs2802081	byFrequency	TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr1:248813271C>A	ENST00000344889.3	-	1	914	c.915G>T	c.(913-915)gtG>gtT	p.V305V		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	305						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)			CACACCTCCCCACAACCTTCT	0.443													c|||	332	0.0662939	0.025	0.0749	5008	,	,		20910	0.0615		0.1074	False		,,,				2504	0.0787															0													65	69	68					1																	248813271		2180	4274	6454	SO:0001819	synonymous_variant	403239				CCDS31124.1	1q44	2012-08-09			ENSG00000187701	ENSG00000187701		"GPCR / Class A : Olfactory receptors"	31252	protein-coding gene	gene with protein product							Standard	NM_001001824		Approved		uc010pzo.2	Q8NH04	OTTHUMG00000040376	ENST00000344889.3:c.915G>T	1.37:g.248813271C>A				Silent	SNP	ENST00000344889.3	37	CCDS31124.1																																																																																				0.443	OR2T27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097124.1	NM_001001824		A	248813271	C	A	248813271	2	1	733	1	0	0	0	0	0	0	0	1	11023	581	21	4		4	OR2T27	1	248813271	Silent	SNP	C	TCGA-KN-8427-01A-11D-2310-10	20380074	248813271	437350	18	41309											
WDR35	57539	hgsc.bcm.edu;ucsc.edu	37	2	20189771	20189771	+	Silent	SNP	G	G	A			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr2:20189771G>A	ENST00000345530.3	-	1	121	c.6C>T	c.(4-6)ttC>ttT	p.F2F	AC079145.4_ENST00000416575.1_RNA|WDR35_ENST00000281405.4_Silent_p.F2F	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	2					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)				breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCAGGTAGAAGAACATCGTGG	0.617																																																0													81	69	73					2																	20189771		2203	4300	6503	SO:0001819	synonymous_variant	57539			AB037757	CCDS1695.1, CCDS33152.1	2p24.3	2014-02-21			ENSG00000118965	ENSG00000118965		"WD repeat domain containing", "Intraflagellar transport homologs"	29250	protein-coding gene	gene with protein product		613602				10718198	Standard	NM_001006657		Approved	MGC33196, KIAA1336, IFT121, IFTA1	uc002rdi.3	Q9P2L0	OTTHUMG00000090737	ENST00000345530.3:c.6C>T	2.37:g.20189771G>A			B3KVI5|Q4ZG01|Q8NE11	Silent	SNP	ENST00000345530.3	37	CCDS33152.1																																																																																				0.617	WDR35-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000207472.2	NM_020779		A	20189771	G	A	20189771	2	1	733	1	0	0	0	0	0	0	0	1	17294	933	33	2		2	WDR35	2	20189771	Silent	SNP	G	TCGA-KN-8427-01A-11D-2310-10		20189771	223009602	19	41310											
EPT1	85465	broad.mit.edu;mdanderson.org	37	2	26596325	26596325	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr2:26596325T>C	ENST00000260585.7	+	5	520	c.401T>C	c.(400-402)gTt>gCt	p.V134A		NM_033505.2	NP_277040.1	Q9C0D9	EPT1_HUMAN	ethanolaminephosphotransferase 1 (CDP-ethanolamine-specific)	134					glycerophospholipid biosynthetic process (GO:0046474)|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)	ethanolaminephosphotransferase activity (GO:0004307)|metal ion binding (GO:0046872)										TGGTCATGTGTTTACTTTGTT	0.423																																																0													154	147	149					2																	26596325		1919	4133	6052	SO:0001583	missense	85465				CCDS46240.1	2p23.3	2012-03-01			ENSG00000138018	ENSG00000138018	2.7.8.1		29361	protein-coding gene	gene with protein product	"selenoprotein I"	607915				11214970, 17132865	Standard	NM_033505		Approved	KIAA1724, SELI, SEPI	uc021veu.1	Q9C0D9	OTTHUMG00000151931	ENST00000260585.7:c.401T>C	2.37:g.26596325T>C	ENSP00000260585:p.Val134Ala		Q63ZE3	Missense_Mutation	SNP	ENST00000260585.7	37	CCDS46240.1	.	.	.	.	.	.	.	.	.	.	T	17.55	3.416932	0.62511	.	.	ENSG00000138018	ENST00000442141;ENST00000260585	T;T	0.43294	0.95;0.95	5.97	5.97	0.96955	.	0.213778	0.49305	D	0.000152	T	0.35364	0.0929	L	0.38953	1.18	0.58432	D	0.999994	P	0.35684	0.515	B	0.37387	0.248	T	0.10497	-1.0627	10	0.15952	T	0.53	0.0353	15.2692	0.73686	0.0:0.0:0.0:1.0	.	134	Q9C0D9	EPT1_HUMAN	A	102;134	ENSP00000415280:V102A;ENSP00000260585:V134A	ENSP00000260585:V134A	V	+	2	0	EPT1	26449829	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.790000	0.85794	2.281000	0.76405	0.528000	0.53228	GTT		0.423	EPT1-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000324484.3	NM_033505.2		C	26596325	T	C	26596325	3	2	733	1	0	0	0	0	1	0	0	0	5201	1725	60	3	419	3	EPT1	2	26596325	Missense_Mutation	SNP	T	TCGA-KN-8427-01A-11D-2310-10	6406554	26596325	216603048	20	41311											
FOXN2	3344	broad.mit.edu	37	2	48602092	48602092	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr2:48602092delA	ENST00000340553.3	+	7	1067	c.806delA	c.(805-807)caafs	p.Q269fs		NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	forkhead box N2	269					transcription, DNA-templated (GO:0006351)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			ACAGCATTGCAAAAAAAGAGG	0.383																																																0													60	56	57					2																	48602092		2203	4300	6503	SO:0001589	frameshift_variant	3344				CCDS1838.1	2p22-p16	2008-02-05	2006-10-02	2006-10-02	ENSG00000170802	ENSG00000170802		"Forkhead boxes"	5281	protein-coding gene	gene with protein product		143089	"human T-cell leukemia virus enhancer factor"	HTLF		1639393	Standard	NM_002158		Approved		uc002rwh.1	P32314	OTTHUMG00000129168	ENST00000340553.3:c.806delA	2.37:g.48602092delA	ENSP00000343633:p.Gln269fs		Q15769|Q6P4Q2	Frame_Shift_Del	DEL	ENST00000340553.3	37	CCDS1838.1																																																																																				0.383	FOXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251240.3	NM_002158		-	48602092	A	-	48602092	7	5	733	1	0	1	0	1	0	0	0	0	6022	130	5	0	824	0	FOXN2	2	48602092	Frame_Shift_Del	DEL	A	TCGA-KN-8427-01A-11D-2310-10	22005767	48602092	194597281	21	41312											
AFTPH	54812	broad.mit.edu	37	2	64779179	64779179	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr2:64779179A>G	ENST00000422803.1	+	2	885	c.571A>G	c.(571-573)Act>Gct	p.T191A	AFTPH_ENST00000409933.1_Missense_Mutation_p.T191A|AFTPH_ENST00000409183.1_5'Flank|AFTPH_ENST00000238855.7_Missense_Mutation_p.T191A|AFTPH_ENST00000238856.4_Missense_Mutation_p.T191A			Q6ULP2	AFTIN_HUMAN	aftiphilin	191					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						AGTGTTGGAAACTGTAAATCC	0.408																																																0													98	92	94					2																	64779179		2203	4300	6503	SO:0001583	missense	54812			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.571A>G	2.37:g.64779179A>G	ENSP00000397726:p.Thr191Ala		D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	Missense_Mutation	SNP	ENST00000422803.1	37		.	.	.	.	.	.	.	.	.	.	A	13.97	2.395228	0.42512	.	.	ENSG00000119844	ENST00000238856;ENST00000422803;ENST00000238855;ENST00000409933	T;T;T;T	0.28666	1.6;1.6;1.6;1.6	5.78	5.78	0.91487	.	0.060058	0.64402	D	0.000006	T	0.44912	0.1316	L	0.50333	1.59	0.29016	N	0.886606	D;D;D;D	0.67145	0.972;0.972;0.972;0.996	P;P;P;D	0.76071	0.673;0.673;0.673;0.987	T	0.43065	-0.9414	10	0.34782	T	0.22	-12.7051	8.3488	0.32290	0.7333:0.1436:0.0:0.1231	.	191;191;191;191	Q6ULP2;Q6ULP2-2;Q6ULP2-5;Q6ULP2-4	AFTIN_HUMAN;.;.;.	A	191	ENSP00000238856:T191A;ENSP00000397726:T191A;ENSP00000238855:T191A;ENSP00000387071:T191A	ENSP00000238855:T191A	T	+	1	0	AFTPH	64632683	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.826000	0.39092	2.333000	0.79357	0.482000	0.46254	ACT		0.408	AFTPH-202	KNOWN	basic	protein_coding	protein_coding		NM_017657		G	64779179	A	G	64779179	3	3	733	1	0	0	0	0	1	0	0	0	364	43	2	3	573	3	AFTPH	2	64779179	Missense_Mutation	SNP	A	TCGA-KN-8427-01A-11D-2310-10	16177087	64779179	178420194	22	41313											
RMND5A	64795	bcgsc.ca	37	2	86993084	86993084	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr2:86993084A>G	ENST00000283632.4	+	6	1286	c.791A>G	c.(790-792)gAc>gGc	p.D264G	RMND5A_ENST00000472843.1_3'UTR	NM_022780.3	NP_073617.1	Q9H871	RMD5A_HUMAN	required for meiotic nuclear division 5 homolog A (S. cerevisiae)	264										kidney(1)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	17						GATATCTGTGACATCTTTACA	0.483																																																0													170	145	154					2																	86993084		2203	4300	6503	SO:0001583	missense	64795			BC012165	CCDS1991.1	2p11.2	2012-07-20			ENSG00000153561	ENSG00000153561			25850	protein-coding gene	gene with protein product	"GID complex subunit 2 homolog A"					12477932	Standard	NM_022780		Approved	FLJ13910, RMD5, GID2, GID2A	uc002srs.4	Q9H871	OTTHUMG00000130262	ENST00000283632.4:c.791A>G	2.37:g.86993084A>G	ENSP00000283632:p.Asp264Gly		D6W5M6|Q6NTF0|Q9H6W5|Q9H9H2	Missense_Mutation	SNP	ENST00000283632.4	37	CCDS1991.1	.	.	.	.	.	.	.	.	.	.	A	18.46	3.629806	0.67015	.	.	ENSG00000153561	ENST00000283632	.	.	.	5.42	5.42	0.78866	Ran binding protein-like, CRA domain (1);	0.136762	0.49916	D	0.000125	T	0.68869	0.3048	M	0.76838	2.35	0.58432	D	0.999999	B	0.33940	0.433	B	0.41946	0.371	T	0.66995	-0.5782	9	0.25751	T	0.34	-14.9569	15.5303	0.75956	1.0:0.0:0.0:0.0	.	264	Q9H871	RMD5A_HUMAN	G	264	.	ENSP00000283632:D264G	D	+	2	0	RMND5A	86846595	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.074000	0.62210	0.529000	0.55759	GAC		0.483	RMND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252591.2	NM_022780		G	86993084	A	G	86993084	3	3	733	1	0	0	0	0	1	0	0	0	13403	275	10	3	813	3	RMND5A	2	86993084	Missense_Mutation	SNP	A	TCGA-KN-8427-01A-11D-2310-10	22213905	86993084	156206289	23	41314											
PROM2	150696	broad.mit.edu	37	2	95944771	95944771	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr2:95944771A>G	ENST00000317620.9	+	10	1286	c.1153A>G	c.(1153-1155)Agg>Ggg	p.R385G	PROM2_ENST00000542147.1_Missense_Mutation_p.R385G|PROM2_ENST00000403131.2_Missense_Mutation_p.R385G|PROM2_ENST00000317668.4_Missense_Mutation_p.R385G	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	385					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						GGAAGGGGTGAGGACACTGGC	0.657																																																0													37	40	39					2																	95944771		2201	4300	6501	SO:0001583	missense	150696			AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066			20685	protein-coding gene	gene with protein product						12514187	Standard	NM_001165978		Approved		uc002sui.3	Q8N271	OTTHUMG00000130393	ENST00000317620.9:c.1153A>G	2.37:g.95944771A>G	ENSP00000318270:p.Arg385Gly		A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Missense_Mutation	SNP	ENST00000317620.9	37	CCDS2012.1	.	.	.	.	.	.	.	.	.	.	A	9.663	1.144612	0.21288	.	.	ENSG00000155066	ENST00000403131;ENST00000317668;ENST00000317620;ENST00000542147	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	4.94	2.51	0.30379	.	0.521662	0.19916	N	0.103189	T	0.37293	0.0998	L	0.54323	1.7	0.33255	D	0.558947	B	0.27013	0.166	B	0.28916	0.096	T	0.39057	-0.9632	10	0.27785	T	0.31	-10.1149	4.6092	0.12392	0.7015:0.1981:0.1004:0.0	.	385	Q8N271	PROM2_HUMAN	G	385	ENSP00000385716:R385G;ENSP00000318520:R385G;ENSP00000318270:R385G;ENSP00000442542:R385G	ENSP00000318270:R385G	R	+	1	2	PROM2	95308498	0.109000	0.22037	0.893000	0.35052	0.262000	0.26303	1.777000	0.38604	0.811000	0.34303	0.496000	0.49642	AGG		0.657	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252771.1	NM_144707		G	95944771	A	G	95944771	3	3	733	1	0	0	0	0	1	0	0	0	12561	295	11	3	1191	3	PROM2	2	95944771	Missense_Mutation	SNP	A	TCGA-KN-8427-01A-11D-2310-10	8951687	95944771	147254602	24	41315											
KYNU	8942	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	143713785	143713785	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr2:143713785A>G	ENST00000264170.4	+	6	707	c.449A>G	c.(448-450)aAg>aGg	p.K150R	KYNU_ENST00000375773.2_Missense_Mutation_p.K150R|KYNU_ENST00000409512.1_Missense_Mutation_p.K150R	NM_003937.2	NP_003928.1			kynureninase											large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)		TCATTTTTTAAGCCTACGCCA	0.289																																																0													85	85	85					2																	143713785		2203	4298	6501	SO:0001583	missense	8942			U57721	CCDS2183.1, CCDS33299.1	2q22.2	2010-11-23	2010-11-23		ENSG00000115919	ENSG00000115919	3.7.1.3		6469	protein-coding gene	gene with protein product	"L-kynurenine hydrolase"	605197	"kynureninase (L-kynurenine hydrolase)"			8706755, 9180257	Standard	NM_001199241		Approved		uc002tvl.3	Q16719	OTTHUMG00000131829	ENST00000264170.4:c.449A>G	2.37:g.143713785A>G	ENSP00000264170:p.Lys150Arg			Missense_Mutation	SNP	ENST00000264170.4	37	CCDS2183.1	.	.	.	.	.	.	.	.	.	.	A	3.590	-0.083860	0.07141	.	.	ENSG00000115919	ENST00000264170;ENST00000375773;ENST00000409512	T;T;T	0.54479	0.57;0.57;0.57	4.76	4.76	0.60689	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.053541	0.64402	D	0.000001	T	0.27900	0.0687	N	0.12443	0.215	0.80722	D	1	B;B	0.09022	0.001;0.002	B;B	0.15870	0.012;0.014	T	0.14896	-1.0456	10	0.02654	T	1	.	9.1649	0.37046	0.9171:0.0:0.0829:0.0	.	150;150	Q16719;Q9BVW3	KYNU_HUMAN;.	R	150	ENSP00000264170:K150R;ENSP00000364928:K150R;ENSP00000386731:K150R	ENSP00000264170:K150R	K	+	2	0	KYNU	143430255	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.398000	0.66308	1.912000	0.55364	0.482000	0.46254	AAG		0.289	KYNU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254772.1	NM_001032998		G	143713785	A	G	143713785	3	3	733	1	0	0	0	0	1	0	0	0	8589	72	3	3	467	3	KYNU	2	143713785	Missense_Mutation	SNP	A	TCGA-KN-8427-01A-11D-2310-10	47769014	143713785	99485588	25	41316											
MBD5	55777	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	149247532	149247532	+	Missense_Mutation	SNP	A	A	C			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr2:149247532A>C	ENST00000407073.1	+	12	4629	c.3632A>C	c.(3631-3633)aAg>aCg	p.K1211T	MBD5_ENST00000404807.1_Missense_Mutation_p.K1444T	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1211					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)		AACAGGTGGAAGTACGAGGAA	0.488																																																0													116	109	112					2																	149247532		2203	4300	6503	SO:0001583	missense	55777			AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.3632A>C	2.37:g.149247532A>C	ENSP00000386049:p.Lys1211Thr		A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	ENST00000407073.1	37	CCDS33302.1	.	.	.	.	.	.	.	.	.	.	A	15.68	2.905528	0.52333	.	.	ENSG00000204406	ENST00000407073;ENST00000404807	T;T	0.51071	0.73;0.72	6.01	4.87	0.63330	.	0.084798	0.50627	D	0.000113	T	0.35393	0.0930	N	0.24115	0.695	0.34601	D	0.716486	B;B	0.25312	0.123;0.123	B;B	0.24974	0.057;0.034	T	0.47032	-0.9148	10	0.87932	D	0	-4.5836	11.9889	0.53163	0.9328:0.0:0.0672:0.0	.	1444;1211	E9PHH0;Q9P267	.;MBD5_HUMAN	T	1211;1444	ENSP00000386049:K1211T;ENSP00000384672:K1444T	ENSP00000384672:K1444T	K	+	2	0	MBD5	148964002	1.000000	0.71417	0.899000	0.35326	0.989000	0.77384	4.135000	0.57997	1.107000	0.41642	0.533000	0.62120	AAG		0.488	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2			C	149247532	A	C	149247532	3	2	733	1	0	0	0	0	1	0	0	0	9349	72	3	5	3658	5	MBD5	2	149247532	Missense_Mutation	SNP	A	TCGA-KN-8427-01A-11D-2310-10	5533747	149247532	93951841	26	41317											
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	179437087	179437087	+	Missense_Mutation	SNP	A	A	G	rs371513695		TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr2:179437087A>G	ENST00000591111.1	-	276	69073	c.68849T>C	c.(68848-68850)tTc>tCc	p.F22950S	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.F15651S|TTN_ENST00000460472.2_Missense_Mutation_p.F15526S|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.F24591S|TTN_ENST00000342175.6_Missense_Mutation_p.F15718S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.F22023S|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA			Q8WZ42	TITIN_HUMAN	titin	22950	Fibronectin type-III 66. {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)			GAGAACCCTGAAATAGTAGCT	0.448																																																0													80	75	77					2																	179437087		1888	4117	6005	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.68849T>C	2.37:g.179437087A>G	ENSP00000465570:p.Phe22950Ser		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		.	.	.	.	.	.	.	.	.	.	A	13.65	2.301097	0.40694	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.61980	0.06;0.06;0.06;0.06	6.07	6.07	0.98685	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.89487	0.6729	H	0.99834	4.825	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	0.94293	0.7530	9	0.87932	D	0	.	16.6277	0.84984	1.0:0.0:0.0:0.0	.	15526;15651;15718;22950	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	22023;15526;15718;15651;15524	ENSP00000343764:F22023S;ENSP00000434586:F15526S;ENSP00000340554:F15718S;ENSP00000352154:F15651S	ENSP00000340554:F15718S	F	-	2	0	TTN	179145333	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.330000	0.79161	0.528000	0.53228	TTC		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		G	179437087	A	G	179437087	3	3	733	1	0	0	0	0	1	0	0	0	16740	246	9	3	34355	3	TTN	2	179437087	Missense_Mutation	SNP	A	TCGA-KN-8427-01A-11D-2310-10	30189555	179437087	63762286	27	41318											
TTN	7273	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	2	179644742	179644742	+	Silent	SNP	A	A	C			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr2:179644742A>C	ENST00000591111.1	-	22	3938	c.3714T>G	c.(3712-3714)acT>acG	p.T1238T	RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000359218.5_Silent_p.T1192T|TTN_ENST00000460472.2_Silent_p.T1192T|TTN_ENST00000589042.1_Silent_p.T1238T|TTN_ENST00000342175.6_Silent_p.T1192T|TTN_ENST00000342992.6_Silent_p.T1238T|TTN_ENST00000360870.5_Silent_p.T1238T			Q8WZ42	TITIN_HUMAN	titin	33443					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.T1192T(5)|p.T1238T(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			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTCTACATAAGTTCTGACCA	0.308																																																9	Substitution - coding silent(9)	large_intestine(5)|stomach(4)											126	115	119					2																	179644742		2203	4300	6503	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.3714T>G	2.37:g.179644742A>C			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					0.308	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		C	179644742	A	C	179644742	2	2	733	1	0	0	0	0	0	0	0	1	16740	59	3	5		5	TTN	2	179644742	Silent	SNP	A	TCGA-KN-8427-01A-11D-2310-10	207655	179644742	63554631	28	41319											
ARL4C	10123	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	235404686	235404686	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr2:235404686C>T	ENST00000390645.2	-	1	1011	c.545G>A	c.(544-546)cGc>cAc	p.R182H	ARL4C_ENST00000339728.3_Missense_Mutation_p.R182H	NM_005737.3	NP_005728.2	P56559	ARL4C_HUMAN	ADP-ribosylation factor-like 4C	182					endocytic recycling (GO:0032456)|GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	alpha-tubulin binding (GO:0043014)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.R182H(1)		endometrium(1)|ovary(1)|skin(1)|urinary_tract(1)	4		Breast(86;0.000596)|Renal(207;0.00339)|all_lung(227;0.00354)|all_hematologic(139;0.0494)|Lung NSC(271;0.0496)|Lung SC(224;0.164)|all_neural(83;0.173)		Epithelial(121;2.6e-19)|BRCA - Breast invasive adenocarcinoma(100;0.000296)|Lung(119;0.002)|LUSC - Lung squamous cell carcinoma(224;0.0048)		GGACTTCCTGCGTTTCAGGAT	0.587																																					Esophageal Squamous(157;1837 2534 13028 22831)											1	Substitution - Missense(1)	endometrium(1)											47	49	48					2																	235404686		1982	4166	6148	SO:0001583	missense	10123			AB016811	CCDS2512.1, CCDS63169.1	2q37.2	2014-05-09	2005-11-03	2005-11-03	ENSG00000188042	ENSG00000188042		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	698	protein-coding gene	gene with protein product		604787	"ADP-ribosylation factor-like 7"	ARL7			Standard	NM_005737		Approved	LAK	uc002vvn.3	P56559	OTTHUMG00000133291	ENST00000390645.2:c.545G>A	2.37:g.235404686C>T	ENSP00000375057:p.Arg182His		Q4A519|Q53R10|Q9BVN1|Q9UQ34	Missense_Mutation	SNP	ENST00000390645.2	37	CCDS2512.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.243610	0.79912	.	.	ENSG00000188042	ENST00000390645;ENST00000339728	D;D	0.82619	-1.63;-1.63	4.22	4.22	0.49857	.	0.000000	0.85682	D	0.000000	D	0.88991	0.6588	M	0.62016	1.91	0.51233	D	0.999917	D;D	0.71674	0.995;0.998	P;D	0.69479	0.84;0.964	D	0.90399	0.4401	10	0.72032	D	0.01	-13.4275	15.5234	0.75881	0.0:1.0:0.0:0.0	.	182;182	P56559;Q4A519	ARL4C_HUMAN;.	H	182	ENSP00000375057:R182H;ENSP00000339754:R182H	ENSP00000339754:R182H	R	-	2	0	ARL4C	235069425	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.544000	0.82117	2.066000	0.61787	0.557000	0.71058	CGC		0.587	ARL4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257073.1			T	235404686	C	T	235404686	3	4	733	1	0	0	0	0	1	0	0	0	937	768	27	1	37	1	ARL4C	2	235404686	Missense_Mutation	SNP	C	TCGA-KN-8427-01A-11D-2310-10	55759944	235404686	7794687	29	41320											
GRM7	2917	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	3	7620544	7620544	+	Missense_Mutation	SNP	G	G	C			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr3:7620544G>C	ENST00000357716.4	+	8	2225	c.1951G>C	c.(1951-1953)Gat>Cat	p.D651H	GRM7_ENST00000402647.2_Missense_Mutation_p.D651H|GRM7_ENST00000403881.1_Missense_Mutation_p.D651H|GRM7_ENST00000486284.1_Missense_Mutation_p.D651H|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000389336.4_Missense_Mutation_p.D651H	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	651					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						TGCCAAACCAGATGTGGCAGT	0.478																																																0													136	128	131					3																	7620544		2203	4300	6503	SO:0001583	missense	2917			U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4599	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 87"	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.1951G>C	3.37:g.7620544G>C	ENSP00000350348:p.Asp651His		Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	ENST00000357716.4	37	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.104349	0.37145	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492	D;D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41;-2.41	5.93	5.93	0.95920	GPCR, family 3, C-terminal (2);	0.047392	0.85682	D	0.000000	D	0.87394	0.6166	N	0.21373	0.66	0.49483	D	0.999798	P;P;D;P;P	0.59357	0.46;0.527;0.985;0.582;0.483	P;P;P;P;P	0.54759	0.537;0.508;0.76;0.641;0.594	D	0.87304	0.2307	10	0.49607	T	0.09	.	13.197	0.59745	0.0762:0.0:0.9238:0.0	.	651;651;406;651;651	B7ZKK0;Q14831-5;Q59G95;Q14831;Q14831-2	.;.;.;GRM7_HUMAN;.	H	651	ENSP00000350348:D651H;ENSP00000417536:D651H;ENSP00000373987:D651H;ENSP00000385664:D651H;ENSP00000384585:D651H	ENSP00000350348:D651H	D	+	1	0	GRM7	7595544	1.000000	0.71417	0.292000	0.24919	0.286000	0.27126	4.229000	0.58625	2.826000	0.97356	0.655000	0.94253	GAT		0.478	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		C	7620544	G	C	7620544	3	2	733	1	0	0	0	0	1	0	0	0	6804	942	33	4	1981	4	GRM7	3	7620544	Missense_Mutation	SNP	G	TCGA-KN-8427-01A-11D-2310-10		7620544	190401886	30	41321											
ZNF445	353274	broad.mit.edu	37	3	44489837	44489837	+	Silent	SNP	C	C	T			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr3:44489837C>T	ENST00000396077.2	-	8	1673	c.1326G>A	c.(1324-1326)ggG>ggA	p.G442G	ZNF445_ENST00000425708.2_Silent_p.G442G	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	442					transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		GGCTGAAGCCCCCAATCATGT	0.463																																																0													135	137	136					3																	44489837		2203	4300	6503	SO:0001819	synonymous_variant	353274			AY262260	CCDS2713.1	3p21.32	2013-01-09	2003-10-07		ENSG00000185219	ENSG00000185219		"Zinc fingers, C2H2-type", "-", "-", "-"	21018	protein-coding gene	gene with protein product			"zinc finger protein 168"	ZNF168		7814019	Standard	NM_181489		Approved	ZKSCAN15, ZSCAN47	uc003cnf.2	P59923	OTTHUMG00000133042	ENST00000396077.2:c.1326G>A	3.37:g.44489837C>T			Q3MJD1	Silent	SNP	ENST00000396077.2	37	CCDS2713.1																																																																																				0.463	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256647.2	NM_181489		T	44489837	C	T	44489837	2	4	733	1	0	0	0	0	0	0	0	1	17923	610	22	2		2	ZNF445	3	44489837	Silent	SNP	C	TCGA-KN-8427-01A-11D-2310-10	36869293	44489837	153532593	31	41322											
SCAP	22937	broad.mit.edu	37	3	47462126	47462126	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr3:47462126G>A	ENST00000265565.5	-	12	1893	c.1481C>T	c.(1480-1482)tCc>tTc	p.S494F	SCAP_ENST00000441517.2_Missense_Mutation_p.S239F|SCAP_ENST00000465628.1_5'UTR|SCAP_ENST00000545718.1_Missense_Mutation_p.S102F	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	494					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)		GTTTCGGAAGGAAGACGGCTG	0.662											OREG0015548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(149;978 1908 29304 37806 46700)											0													61	60	60					3																	47462126		2203	4300	6503	SO:0001583	missense	22937			BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"WD repeat domain containing"	30634	protein-coding gene	gene with protein product	"SREBP cleavage activating protein"	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.1481C>T	3.37:g.47462126G>A	ENSP00000265565:p.Ser494Phe	947	Q8N2E0|Q8WUA1	Missense_Mutation	SNP	ENST00000265565.5	37	CCDS2755.2	.	.	.	.	.	.	.	.	.	.	G	22.4	4.290168	0.80914	.	.	ENSG00000114650	ENST00000360832;ENST00000265565;ENST00000441517;ENST00000545718;ENST00000383739	T;T;T	0.81415	-1.49;-1.47;0.66	5.03	5.03	0.67393	.	0.058967	0.64402	D	0.000002	T	0.72020	0.3409	L	0.47716	1.5	0.54753	D	0.999987	B;B	0.33583	0.418;0.06	B;B	0.26864	0.074;0.031	T	0.69942	-0.5008	10	0.08599	T	0.76	-33.3333	18.138	0.89627	0.0:0.0:1.0:0.0	.	239;494	F8W921;Q12770	.;SCAP_HUMAN	F	121;494;239;102;187	ENSP00000265565:S494F;ENSP00000416847:S239F;ENSP00000438956:S102F	ENSP00000265565:S494F	S	-	2	0	SCAP	47437130	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.349000	0.97066	2.629000	0.89072	0.462000	0.41574	TCC		0.662	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	NM_012235		A	47462126	G	A	47462126	3	1	733	1	0	0	0	0	1	0	0	0	13883	1174	41	2	2406	2	SCAP	3	47462126	Missense_Mutation	SNP	G	TCGA-KN-8427-01A-11D-2310-10	2972289	47462126	150560304	32	41323											
ABI3BP	25890	broad.mit.edu;mdanderson.org;bcgsc.ca	37	3	100515270	100515270	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr3:100515270A>G	ENST00000284322.5	-	21	1899	c.1790T>C	c.(1789-1791)gTc>gCc	p.V597A	ABI3BP_ENST00000383691.4_Missense_Mutation_p.V551A|ABI3BP_ENST00000471714.1_Missense_Mutation_p.V1274A	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	597	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						GCTCTGAGAGACCTCAGGGTA	0.328																																																0													71	67	68					3																	100515270		1799	4072	5871	SO:0001583	missense	25890			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.1790T>C	3.37:g.100515270A>G	ENSP00000284322:p.Val597Ala		B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	ENST00000284322.5	37	CCDS46880.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.55|14.55	2.569658|2.569658	0.45798|0.45798	.|.	.|.	ENSG00000154175|ENSG00000154175	ENST00000495591;ENST00000471901;ENST00000527943|ENST00000471714;ENST00000284322;ENST00000383692;ENST00000383691;ENST00000486770	.|T;T;T	.|0.56275	.|2.11;0.47;1.57	5.49|5.49	3.01|3.01	0.34805|0.34805	.|.	.|0.464387	.|0.21184	.|N	.|0.078775	T|T	0.44286|0.44286	0.1286|0.1286	L|L	0.58101|0.58101	1.795|1.795	0.23023|0.23023	N|N	0.99841|0.99841	.|P;B;P;P	.|0.47762	.|0.622;0.148;0.9;0.842	.|B;B;B;B	.|0.44224	.|0.152;0.089;0.444;0.366	T|T	0.29518|0.29518	-1.0009|-1.0009	5|10	.|0.11794	.|T	.|0.64	-0.6107|-0.6107	6.1652|6.1652	0.20386|0.20386	0.6701:0.1687:0.0:0.1612|0.6701:0.1687:0.0:0.1612	.|.	.|551;597;1274;281	.|B4DSV9;Q7Z7G0;D3YTG3;D3YTD6	.|.;TARSH_HUMAN;.;.	P|A	653;177;103|1274;597;281;551;35	.|ENSP00000420524:V1274A;ENSP00000284322:V597A;ENSP00000373189:V551A	.|ENSP00000284322:V597A	S|V	-|-	1|2	0|0	ABI3BP|ABI3BP	101997960|101997960	0.434000|0.434000	0.25570|0.25570	0.924000|0.924000	0.36721|0.36721	0.935000|0.935000	0.57460|0.57460	0.985000|0.985000	0.29578|0.29578	0.336000|0.336000	0.23639|0.23639	0.477000|0.477000	0.44152|0.44152	TCT|GTC		0.328	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1			G	100515270	A	G	100515270	3	3	733	1	0	0	0	0	1	0	0	0	91	275	10	3	1497	3	ABI3BP	3	100515270	Missense_Mutation	SNP	A	TCGA-KN-8427-01A-11D-2310-10	53053144	100515270	97507160	33	41324											
WWTR1	25937	mdanderson.org	37	3	149374873	149374873	+	Missense_Mutation	SNP	G	G	T	rs1055153	byFrequency	TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr3:149374873G>T	ENST00000465804.1	-	3	477	c.221C>A	c.(220-222)cCg>cAg	p.P74Q	WWTR1_ENST00000467467.1_Missense_Mutation_p.P74Q|WWTR1-AS1_ENST00000479752.1_RNA|WWTR1-AS1_ENST00000466836.1_RNA|WWTR1-AS1_ENST00000495094.1_RNA|WWTR1_ENST00000360632.3_Missense_Mutation_p.P74Q	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	74					cilium morphogenesis (GO:0060271)|gene expression (GO:0010467)|glomerulus development (GO:0032835)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of SMAD protein import into nucleus (GO:0060390)|regulation of transcription, DNA-templated (GO:0006355)|stem cell division (GO:0017145)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TCGAGGCCCCGGGTGGCCGCC	0.711			T	CAMTA1	epitheliod hemangioendothelioma								G|||	370	0.0738818	0.0582	0.0418	5008	,	,		12401	0.1478		0.0666	False		,,,				2504	0.0491						Dom	yes		3	3q23-q24	607392	WW domain containing transcription regulator 1		M	0								G	GLN/PRO,GLN/PRO,GLN/PRO	230,4124		5,220,1952	7	8	8		221,221,221	5.1	1	3	dbSNP_86	8	553,7949		28,497,3726	no	missense,missense,missense	WWTR1	NM_001168278.1,NM_001168280.1,NM_015472.4	76,76,76	33,717,5678	TT,TG,GG		6.5044,5.2825,6.0905	probably-damaging,probably-damaging,probably-damaging	74/401,74/401,74/401	149374873	783,12073	2177	4251	6428	SO:0001583	missense	25937			AK022036	CCDS3144.1	3q23-q24	2004-12-03			ENSG00000018408	ENSG00000018408			24042	protein-coding gene	gene with protein product		607392				11118213, 15096513	Standard	NM_015472		Approved	TAZ, DKFZp586I1419	uc021xfm.1	Q9GZV5	OTTHUMG00000159614	ENST00000465804.1:c.221C>A	3.37:g.149374873G>T	ENSP00000419465:p.Pro74Gln		D3DNH7|Q8N3P2|Q9Y3W6	Missense_Mutation	SNP	ENST00000465804.1	37	CCDS3144.1	159	0.07280219780219781	30	0.06097560975609756	14	0.03867403314917127	58	0.10139860139860139	57	0.07519788918205805	G	25.8	4.671276	0.88348	0.052825	0.065044	ENSG00000018408	ENST00000465804;ENST00000360632;ENST00000467467;ENST00000479238;ENST00000485352;ENST00000475579	T;T;T;T	0.45276	0.9;0.9;0.9;0.91	5.09	5.09	0.68999	.	0.076177	0.52532	D	0.000076	T	0.02380	0.0073	L	0.43152	1.355	0.09310	P	0.99999795331	D	0.76494	0.999	D	0.72625	0.978	T	0.02339	-1.1174	9	0.12103	T	0.63	-17.8884	18.1077	0.89525	0.0:0.0:1.0:0.0	rs1055153;rs3195644;rs1055153	74	Q9GZV5	WWTR1_HUMAN	Q	74	ENSP00000419465:P74Q;ENSP00000353847:P74Q;ENSP00000419234:P74Q;ENSP00000418580:P74Q	ENSP00000353847:P74Q	P	-	2	0	WWTR1	150857563	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	5.329000	0.65892	2.360000	0.80028	0.462000	0.41574	CCG		0.711	WWTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356498.1	NM_015472		T	149374873	G	T	149374873	3	4	733	1	0	0	0	0	1	0	0	0	17422	1116	39	4	1005	4	WWTR1	3	149374873	Missense_Mutation	SNP	G	TCGA-KN-8427-01A-11D-2310-10	48859603	149374873	48647557	34	41325											
GPR87	53836	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	3	151012813	151012813	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr3:151012813G>A	ENST00000260843.4	-	3	685	c.221C>T	c.(220-222)aCc>aTc	p.T74I	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	74					negative regulation of adenylate cyclase activity (GO:0007194)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TATGAAGCTGGTTTTATTCCT	0.403																																																0													97	98	98					3																	151012813		2203	4300	6503	SO:0001583	missense	53836			AF237763	CCDS3157.1	3q24	2012-08-21			ENSG00000138271	ENSG00000138271		"GPCR / Class A : Orphans"	4538	protein-coding gene	gene with protein product		606379		GPR95		11273702	Standard	NM_023915		Approved		uc003eyt.2	Q9BY21	OTTHUMG00000159858	ENST00000260843.4:c.221C>T	3.37:g.151012813G>A	ENSP00000260843:p.Thr74Ile		Q5KU35|Q96JZ8|Q9BXC2	Missense_Mutation	SNP	ENST00000260843.4	37	CCDS3157.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.662431	0.88251	.	.	ENSG00000138271	ENST00000260843	T	0.21361	2.01	5.31	5.31	0.75309	GPCR, rhodopsin-like superfamily (1);	0.066355	0.64402	D	0.000008	T	0.38295	0.1035	M	0.73430	2.235	0.58432	D	0.999991	P	0.47484	0.896	P	0.48598	0.583	T	0.32508	-0.9904	10	0.87932	D	0	-12.6765	19.3303	0.94283	0.0:0.0:1.0:0.0	.	74	Q9BY21	GPR87_HUMAN	I	74	ENSP00000260843:T74I	ENSP00000260843:T74I	T	-	2	0	GPR87	152495503	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.248000	0.72418	2.632000	0.89209	0.655000	0.94253	ACC		0.403	GPR87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357788.1			A	151012813	G	A	151012813	3	1	733	1	0	0	0	0	1	0	0	0	6718	1261	44	2	859	2	GPR87	3	151012813	Missense_Mutation	SNP	G	TCGA-KN-8427-01A-11D-2310-10	1637940	151012813	47009617	35	41326											
FGFBP2	83888	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	4	15964500	15964500	+	Missense_Mutation	SNP	C	C	T	rs111244757		TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr4:15964500C>T	ENST00000259989.6	-	1	359	c.253G>A	c.(253-255)Gct>Act	p.A85T	FGFBP2_ENST00000509331.1_Intron	NM_031950.3	NP_114156.1	Q9BYJ0	FGFP2_HUMAN	fibroblast growth factor binding protein 2	85						extracellular region (GO:0005576)				central_nervous_system(1)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						GGGTCAGCAGCGAAAGCCTGG	0.622																																																0													54	54	54					4																	15964500		2203	4300	6503	SO:0001583	missense	83888			AB021123	CCDS3419.1	4p15.32	2008-07-16			ENSG00000137441	ENSG00000137441			29451	protein-coding gene	gene with protein product	"killer-specific secretory protein of 37 kDa"	607713				11342666, 12322897	Standard	NM_031950		Approved	KSP37	uc003gon.3	Q9BYJ0	OTTHUMG00000128513	ENST00000259989.6:c.253G>A	4.37:g.15964500C>T	ENSP00000259989:p.Ala85Thr			Missense_Mutation	SNP	ENST00000259989.6	37	CCDS3419.1	.	.	.	.	.	.	.	.	.	.	c	0.010	-1.743909	0.00675	.	.	ENSG00000137441	ENST00000259989	T	0.13778	2.56	2.98	-1.37	0.09056	.	114.197000	0.00397	N	0.000044	T	0.08179	0.0204	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23940	-1.0174	10	0.10902	T	0.67	.	4.6434	0.12560	0.0:0.2269:0.3136:0.4596	.	85	Q9BYJ0	FGFP2_HUMAN	T	85	ENSP00000259989:A85T	ENSP00000259989:A85T	A	-	1	0	FGFBP2	15573598	0.223000	0.23663	0.000000	0.03702	0.007000	0.05969	0.337000	0.19841	-0.608000	0.05731	-0.127000	0.14921	GCT		0.622	FGFBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250324.1	NM_031950		T	15964500	C	T	15964500	3	4	733	1	0	0	0	0	1	0	0	0	5863	768	27	1	422	1	FGFBP2	4	15964500	Missense_Mutation	SNP	C	TCGA-KN-8427-01A-11D-2310-10		15964500	175189776	36	41327											
NHEDC1	150159	mdanderson.org	37	4	103870578	103870578	+	Missense_Mutation	SNP	A	A	G	rs79959710	byFrequency	TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr4:103870578A>G	ENST00000296422.7	-	4	359	c.218T>C	c.(217-219)aTa>aCa	p.I73T	SLC9B1_ENST00000394789.3_Missense_Mutation_p.I73T	NM_139173.3	NP_631912	Q4ZJI4	SL9B1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	73					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)										CACAAACAGTATAACTCCTGA	0.323																																																0													51	49	49					4																	103870578		2151	4281	6432	SO:0001583	missense	150159			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.218T>C	4.37:g.103870578A>G	ENSP00000296422:p.Ile73Thr		A1KXV1|B9EH04|C9JBP7|Q49A30|Q8NCV2|Q8WVZ0	Missense_Mutation	SNP	ENST00000296422.7	37	CCDS34041.1	.	.	.	.	.	.	.	.	.	.	A	8.103	0.777074	0.16120	.	.	ENSG00000164037	ENST00000394789;ENST00000296422;ENST00000452285	T;T	0.19532	2.14;2.14	3.85	-0.0813	0.13703	.	1.453490	0.04415	N	0.366611	T	0.24198	0.0586	L	0.58583	1.82	0.09310	N	1	B;B	0.17038	0.02;0.01	B;B	0.18263	0.021;0.012	T	0.36939	-0.9727	10	0.44086	T	0.13	0.0195	9.4384	0.38653	0.3713:0.0:0.6287:0.0	.	73;73	Q4ZJI4;Q4ZJI4-3	SL9B1_HUMAN;.	T	73	ENSP00000378269:I73T;ENSP00000296422:I73T	ENSP00000296422:I73T	I	-	2	0	SLC9B1	104090027	0.001000	0.12720	0.002000	0.10522	0.173000	0.22820	1.267000	0.33050	-0.082000	0.12640	-0.451000	0.05528	ATA		0.323	SLC9B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363841.1	NM_139173		G	103870578	A	G	103870578	3	3	733	1	0	0	0	0	1	0	0	0	10402	449	16	3	1465	3	NHEDC1	4	103870578	Missense_Mutation	SNP	A	TCGA-KN-8427-01A-11D-2310-10	87906078	103870578	87283698	37	41328											
LEF1	51176	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	4	109084842	109084842	+	Missense_Mutation	SNP	C	C	G			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr4:109084842C>G	ENST00000265165.1	-	3	950	c.296G>C	c.(295-297)gGa>gCa	p.G99A	LEF1_ENST00000438313.2_Missense_Mutation_p.G99A|LEF1_ENST00000512172.1_Missense_Mutation_p.G31A|LEF1_ENST00000379951.2_Missense_Mutation_p.G99A|LEF1_ENST00000510624.1_Missense_Mutation_p.G31A	NM_016269.4	NP_057353.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	99	Pro-rich.				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)		GTAGAGGCCTCCATCTGGATG	0.388																																																0													120	109	113					4																	109084842		2203	4300	6503	SO:0001583	missense	51176				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.296G>C	4.37:g.109084842C>G	ENSP00000265165:p.Gly99Ala		B4DG38|B7Z8E2|E9PDK3|Q3ZCU4|Q9HAZ0	Missense_Mutation	SNP	ENST00000265165.1	37	CCDS3679.1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.968790	0.53614	.	.	ENSG00000138795	ENST00000265165;ENST00000379951;ENST00000438313;ENST00000510624;ENST00000515500;ENST00000512172	D;D;D;D	0.99338	-5.63;-5.76;-5.75;-5.54	5.83	5.83	0.93111	CTNNB1 binding, N-teminal (1);	0.222920	0.47093	D	0.000246	D	0.97654	0.9231	L	0.33339	1.005	0.41780	D	0.989819	B;P;B;B	0.37864	0.351;0.61;0.243;0.221	B;B;B;B	0.39771	0.203;0.198;0.287;0.309	D	0.97727	1.0200	10	0.35671	T	0.21	-6.0885	15.2407	0.73468	0.0:0.9313:0.0:0.0687	.	31;99;99;99	E9PDK3;Q9UJU2-6;Q9UJU2-5;Q9UJU2	.;.;.;LEF1_HUMAN	A	99;99;99;31;31;31	ENSP00000265165:G99A;ENSP00000369284:G99A;ENSP00000406176:G99A;ENSP00000422840:G31A	ENSP00000265165:G99A	G	-	2	0	LEF1	109304291	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.157000	0.58144	2.763000	0.94921	0.563000	0.77884	GGA		0.388	LEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254749.2			G	109084842	C	G	109084842	3	3	733	1	0	0	0	0	1	0	0	0	8716	855	30	4	1023	4	LEF1	4	109084842	Missense_Mutation	SNP	C	TCGA-KN-8427-01A-11D-2310-10	5214264	109084842	82069434	38	41329											
MARCH1	55016	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	4	164466780	164466780	+	Missense_Mutation	SNP	G	G	C			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr4:164466780G>C	ENST00000503008.1	-	7	1515	c.539C>G	c.(538-540)aCa>aGa	p.T180R	MARCH1_ENST00000339875.5_Missense_Mutation_p.T163R|MARCH1_ENST00000514618.1_Missense_Mutation_p.T436R|MARCH1_ENST00000274056.7_Missense_Mutation_p.T180R	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	180					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)				TTCCTCCGCTGTCCGGTCTAT	0.438																																																0													238	181	200					4																	164466780		2203	4300	6503	SO:0001583	missense	55016			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.539C>G	4.37:g.164466780G>C	ENSP00000427223:p.Thr180Arg		D3DP29|Q9NWR0	Missense_Mutation	SNP	ENST00000503008.1	37	CCDS54814.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.296636	0.81025	.	.	ENSG00000145416	ENST00000274056;ENST00000503008;ENST00000514618;ENST00000339875	T;T;T;T	0.35236	1.77;1.77;1.32;1.38	5.03	5.03	0.67393	.	0.000000	0.64402	D	0.000001	T	0.59998	0.2235	M	0.69358	2.11	0.80722	D	1	D;D	0.89917	1.0;0.959	D;P	0.76071	0.987;0.835	T	0.62599	-0.6820	10	0.56958	D	0.05	.	18.346	0.90322	0.0:0.0:1.0:0.0	.	180;163	Q8TCQ1;Q8TCQ1-2	MARH1_HUMAN;.	R	180;180;436;163	ENSP00000274056:T180R;ENSP00000427223:T180R;ENSP00000421322:T436R;ENSP00000345676:T163R	ENSP00000274056:T180R	T	-	2	0	MARCH1	164686230	1.000000	0.71417	0.412000	0.26496	0.600000	0.36913	9.476000	0.97823	2.331000	0.79229	0.655000	0.94253	ACA		0.438	MARCH1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364493.2	NM_017923		C	164466780	G	C	164466780	3	2	733	1	0	0	0	0	1	0	0	0	9300	1377	48	4	338	4	MARCH1	4	164466780	Missense_Mutation	SNP	G	TCGA-KN-8427-01A-11D-2310-10	55381938	164466780	26687496	39	41330											
FRG1	2483	mdanderson.org	37	4	190878571	190878571	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr4:190878571G>A	ENST00000226798.4	+	6	673	c.451G>A	c.(451-453)Gcc>Acc	p.A151T	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	151					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)		GGCTTTGTTGGCCTCAAATAG	0.353																																																0													13	18	16					4																	190878571		2149	4265	6414	SO:0001583	missense	2483			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.451G>A	4.37:g.190878571G>A	ENSP00000226798:p.Ala151Thr		A8K775	Missense_Mutation	SNP	ENST00000226798.4	37	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	20.8	4.048689	0.75846	.	.	ENSG00000109536	ENST00000226798;ENST00000524583;ENST00000531991	T;T	0.51071	1.88;0.72	4.19	4.19	0.49359	Actin cross-linking (1);	0.051971	0.85682	D	0.000000	T	0.59756	0.2217	M	0.82193	2.58	0.80722	D	1	P	0.43519	0.809	P	0.49226	0.603	T	0.61836	-0.6981	10	0.27785	T	0.31	-16.5099	14.4711	0.67517	0.0:0.0:1.0:0.0	.	151	Q14331	FRG1_HUMAN	T	151;23;88	ENSP00000226798:A151T;ENSP00000435943:A88T	ENSP00000226798:A151T	A	+	1	0	FRG1	191115565	1.000000	0.71417	1.000000	0.80357	0.475000	0.33008	9.545000	0.98095	2.063000	0.61619	0.454000	0.30748	GCC		0.353	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		A	190878571	G	A	190878571	3	1	733	1	0	0	0	0	1	0	0	0	6048	1203	42	2	473	2	FRG1	4	190878571	Missense_Mutation	SNP	G	TCGA-KN-8427-01A-11D-2310-10	26411791	190878571	275705	40	41331											
MAP1B	4131	bcgsc.ca	37	5	71493198	71493198	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr5:71493198C>T	ENST00000296755.7	+	5	4314	c.4016C>T	c.(4015-4017)tCt>tTt	p.S1339F		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1339					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)		TACTATCAATCTCCTACTGAC	0.458																																					Melanoma(17;367 822 11631 31730 47712)											0													68	67	68					5																	71493198		2203	4300	6503	SO:0001583	missense	4131			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 102"	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.4016C>T	5.37:g.71493198C>T	ENSP00000296755:p.Ser1339Phe		A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.234964	0.58886	.	.	ENSG00000131711	ENST00000296755	T	0.04406	3.63	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000007	T	0.15046	0.0363	L	0.29908	0.895	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.997	T	0.01065	-1.1463	10	0.87932	D	0	-14.8862	19.877	0.96880	0.0:1.0:0.0:0.0	.	1213;1339	A2BDK6;P46821	.;MAP1B_HUMAN	F	1339	ENSP00000296755:S1339F	ENSP00000296755:S1339F	S	+	2	0	MAP1B	71528954	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.487000	0.81328	2.709000	0.92574	0.561000	0.74099	TCT		0.458	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		T	71493198	C	T	71493198	3	4	733	1	0	0	0	0	1	0	0	0	9230	913	32	2	4034	2	MAP1B	5	71493198	Missense_Mutation	SNP	C	TCGA-KN-8427-01A-11D-2310-10		71493198	109422062	41	41332											
MCTP1	79772	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	5	94046552	94046552	+	Missense_Mutation	SNP	A	A	C			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr5:94046552A>C	ENST00000515393.1	-	21	2800	c.2801T>G	c.(2800-2802)aTt>aGt	p.I934S	MCTP1_ENST00000514040.1_5'UTR|MCTP1_ENST00000429576.2_Missense_Mutation_p.I627S|MCTP1_ENST00000312216.8_Missense_Mutation_p.I713S|MCTP1_ENST00000505078.1_Missense_Mutation_p.I450S|ANKRD32_ENST00000493934.1_Intron	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	934					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)		TCTCAGCGGAATGCAGTACAG	0.458																																																0													109	92	98					5																	94046552		2203	4300	6503	SO:0001583	missense	79772				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.2801T>G	5.37:g.94046552A>C	ENSP00000424126:p.Ile934Ser		Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Missense_Mutation	SNP	ENST00000515393.1	37	CCDS34203.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.321033	0.81580	.	.	ENSG00000175471	ENST00000515393;ENST00000429576;ENST00000505078;ENST00000312216;ENST00000508509	T;T;T;T;T	0.79247	-1.25;-1.17;-0.22;-1.14;-0.99	5.79	5.79	0.91817	Phosphoribosyltransferase C-terminal (1);	0.107337	0.64402	D	0.000007	D	0.87067	0.6085	M	0.79123	2.44	0.80722	D	1	D;D;D	0.67145	0.991;0.982;0.996	P;P;P	0.62298	0.898;0.802;0.9	D	0.88754	0.3252	10	0.87932	D	0	-8.2988	16.1376	0.81497	1.0:0.0:0.0:0.0	.	934;627;713	Q6DN14;Q6DN14-3;Q6DN14-2	MCTP1_HUMAN;.;.	S	934;627;450;713;654	ENSP00000424126:I934S;ENSP00000391639:I627S;ENSP00000426417:I450S;ENSP00000308957:I713S;ENSP00000423410:I654S	ENSP00000308957:I713S	I	-	2	0	MCTP1	94072308	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.962000	0.93254	2.212000	0.71576	0.533000	0.62120	ATT		0.458	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370280.3	NM_024717		C	94046552	A	C	94046552	3	2	733	1	0	0	0	0	1	0	0	0	9402	101	4	5	210	5	MCTP1	5	94046552	Missense_Mutation	SNP	A	TCGA-KN-8427-01A-11D-2310-10	22553354	94046552	86868708	42	41333											
SEMA6A	57556	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	5	115840607	115840607	+	Missense_Mutation	SNP	G	G	C	rs36105994	byFrequency	TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr5:115840607G>C	ENST00000343348.6	-	2	821	c.34C>G	c.(34-36)Ctg>Gtg	p.L12V	CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000510263.1_Missense_Mutation_p.L12V|SEMA6A_ENST00000257414.8_Missense_Mutation_p.L12V|SEMA6A_ENST00000503962.1_5'Flank	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	12					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)		AAGTGTAGCAGTGTGAAATAT	0.443																																																0													79	84	83					5																	115840607		1872	4106	5978	SO:0001583	missense	57556			AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"Semaphorins"	10738	protein-coding gene	gene with protein product	"sema VIa"	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.34C>G	5.37:g.115840607G>C	ENSP00000345512:p.Leu12Val		Q9P2H9	Missense_Mutation	SNP	ENST00000343348.6	37	CCDS47256.1	.	.	.	.	.	.	.	.	.	.	G	11.84	1.757680	0.31137	.	.	ENSG00000092421	ENST00000343348;ENST00000257414;ENST00000510263;ENST00000515009;ENST00000509665	T;T;T;T	0.46819	2.21;2.21;2.21;0.86	5.36	5.36	0.76844	.	0.079008	0.52532	D	0.000065	T	0.39572	0.1083	L	0.36672	1.1	0.80722	D	1	B;B	0.21688	0.016;0.059	B;B	0.23574	0.015;0.047	T	0.17653	-1.0362	10	0.35671	T	0.21	.	13.6262	0.62165	0.0:0.0:0.8449:0.1551	.	12;12	Q9H2E6;Q9H2E6-2	SEM6A_HUMAN;.	V	12	ENSP00000345512:L12V;ENSP00000257414:L12V;ENSP00000424388:L12V;ENSP00000421935:L12V	ENSP00000257414:L12V	L	-	1	2	SEMA6A	115868506	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.500000	0.81588	2.512000	0.84698	0.563000	0.77884	CTG		0.443	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796		C	115840607	G	C	115840607	3	2	733	1	0	0	0	0	1	0	0	0	14045	1020	36	4	3130	4	SEMA6A	5	115840607	Missense_Mutation	SNP	G	TCGA-KN-8427-01A-11D-2310-10	21794055	115840607	65074653	43	41334											
CPLX2	10814	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	5	175306003	175306003	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr5:175306003C>T	ENST00000359546.4	+	4	767	c.124C>T	c.(124-126)Cgg>Tgg	p.R42W	CPLX2_ENST00000512824.1_Missense_Mutation_p.R42W|CPLX2_ENST00000515094.1_Missense_Mutation_p.R42W|CPLX2_ENST00000393745.3_Missense_Mutation_p.R42W	NM_001008220.1|NM_006650.3	NP_001008221.1|NP_006641.1	Q6PUV4	CPLX2_HUMAN	complexin 2	42	Interaction with the SNARE complex. {ECO:0000250}.				cell differentiation (GO:0030154)|mast cell degranulation (GO:0043303)|nervous system development (GO:0007399)|positive regulation of synaptic plasticity (GO:0031915)|regulation of exocytosis (GO:0017157)|synaptic vesicle exocytosis (GO:0016079)|vesicle docking involved in exocytosis (GO:0006904)	dendrite (GO:0030425)|mast cell granule (GO:0042629)|neuronal cell body (GO:0043025)|synapse (GO:0045202)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin II complex (GO:0070033)|synaptobrevin 2-SNAP-25-syntaxin-3-complexin complex (GO:0070554)				endometrium(3)|kidney(2)|lung(3)|ovary(2)	10	all_cancers(89;0.004)|Renal(175;0.000269)|Lung NSC(126;0.00441)|all_lung(126;0.00747)	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)			ggaggcgctgcggcagcagga	0.672																																																0													16	15	15					5																	175306003		2199	4293	6492	SO:0001583	missense	10814			U35100	CCDS4396.1	5q35.2	2008-05-23			ENSG00000145920	ENSG00000145920			2310	protein-coding gene	gene with protein product		605033				7553862, 16162394	Standard	XM_005265798		Approved	CPX-2, DKFZp547D155	uc003mdf.1	Q6PUV4	OTTHUMG00000130665	ENST00000359546.4:c.124C>T	5.37:g.175306003C>T	ENSP00000352544:p.Arg42Trp		B2RAG2|O09056|Q13329|Q28184|Q52M15|Q64386	Missense_Mutation	SNP	ENST00000359546.4	37	CCDS4396.1	.	.	.	.	.	.	.	.	.	.	c	20.1	3.934879	0.73442	.	.	ENSG00000145920	ENST00000359546;ENST00000509837;ENST00000393745;ENST00000512824;ENST00000393746;ENST00000514150;ENST00000502265;ENST00000515094	.	.	.	4.32	1.29	0.21616	.	0.000000	0.85682	U	0.000000	T	0.78635	0.4314	M	0.86651	2.83	0.58432	D	0.999994	D	0.76494	0.999	D	0.79784	0.993	T	0.78981	-0.1989	9	0.87932	D	0	-19.8811	10.9358	0.47245	0.501:0.4989:0.0:0.0	.	42	Q6PUV4	CPLX2_HUMAN	W	42	.	ENSP00000352544:R42W	R	+	1	2	CPLX2	175238609	0.908000	0.30866	0.520000	0.27837	0.950000	0.60333	0.553000	0.23391	0.048000	0.15891	0.457000	0.33378	CGG		0.672	CPLX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253157.2			T	175306003	C	T	175306003	3	4	733	1	0	0	0	0	1	0	0	0	3807	759	27	1	130	1	CPLX2	5	175306003	Missense_Mutation	SNP	C	TCGA-KN-8427-01A-11D-2310-10	59465396	175306003	5609257	44	41335											
HIST1H2BD	3017	broad.mit.edu	37	6	26158611	26158611	+	Missense_Mutation	SNP	G	G	C			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr6:26158611G>C	ENST00000289316.2	+	1	238	c.214G>C	c.(214-216)Gag>Cag	p.E72Q	HIST1H2BD_ENST00000377777.4_Missense_Mutation_p.E72Q	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	72					chromatin organization (GO:0006325)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						CGACATCTTCGAGCGCATCGC	0.587																																																0													158	151	153					6																	26158611		2203	4300	6503	SO:0001583	missense	3017			M60751	CCDS4587.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000158373	ENSG00000158373		"Histones / Replication-dependent"	4747	protein-coding gene	gene with protein product		602799	"H2B histone family, member B", "histone 1, H2bd"	H2BFB		1916825, 12408966	Standard	NM_021063		Approved	H2B/b	uc003ngr.3	P58876	OTTHUMG00000014426	ENST00000289316.2:c.214G>C	6.37:g.26158611G>C	ENSP00000289316:p.Glu72Gln			Missense_Mutation	SNP	ENST00000289316.2	37	CCDS4587.1	.	.	.	.	.	.	.	.	.	.	.	20.4	3.979084	0.74360	.	.	ENSG00000158373	ENST00000377777;ENST00000289316	T;T	0.28454	1.61;1.61	5.19	4.3	0.51218	Histone-fold (2);Histone core (1);	0.000000	0.42053	D	0.000772	T	0.36580	0.0972	H	0.96576	3.845	0.43512	D	0.995777	B	0.15719	0.014	B	0.17979	0.02	T	0.53078	-0.8489	10	0.59425	D	0.04	.	12.7759	0.57448	0.0815:0.0:0.9185:0.0	.	72	P58876	H2B1D_HUMAN	Q	72	ENSP00000367008:E72Q;ENSP00000289316:E72Q	ENSP00000289316:E72Q	E	+	1	0	HIST1H2BD	26266590	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.909000	0.63314	1.494000	0.48533	0.650000	0.86243	GAG		0.587	HIST1H2BD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040088.1	NM_021063		C	26158611	G	C	26158611	3	2	733	1	0	0	0	0	1	0	0	0	7145	1059	37	4	216	4	HIST1H2BD	6	26158611	Missense_Mutation	SNP	G	TCGA-KN-8427-01A-11D-2310-10		26158611	144956456	45	41336											
MUC21	394263	mdanderson.org	37	6	30954921	30954921	+	Silent	SNP	C	C	G	rs548248760	byFrequency	TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr6:30954921C>G	ENST00000376296.3	+	2	1210	c.969C>G	c.(967-969)acC>acG	p.T323T	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	323	28 X 15 AA approximate tandem repeats.|Ser-rich.		T -> P (in dbSNP:rs41288679). {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						CCAGCACAACCTCCAGTGGGG	0.627													c|||	32	0.00638978	0.0083	0.0144	5008	,	,		22635	0.001		0.005	False		,,,				2504	0.0051															0																																										SO:0001819	synonymous_variant	394263			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.969C>G	6.37:g.30954921C>G			B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Silent	SNP	ENST00000376296.3	37	CCDS34388.1																																																																																				0.627	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		G	30954921	C	G	30954921	2	3	733	1	0	0	0	0	0	0	0	1	9979	668	24	4		4	MUC21	6	30954921	Silent	SNP	C	TCGA-KN-8427-01A-11D-2310-10	4796310	30954921	140160146	46	41337											
TTBK1	84630	mdanderson.org	37	6	43251912	43251912	+	Missense_Mutation	SNP	A	A	G	rs3800297	byFrequency	TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr6:43251912A>G	ENST00000259750.4	+	14	3517	c.3434A>G	c.(3433-3435)aAg>aGg	p.K1145R		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	1145			K -> R (in dbSNP:rs3800297). {ECO:0000269|PubMed:17344846}.		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)			TTGCCCAGGAAGAGCGGGAGG	0.701													A|||	1774	0.354233	0.5628	0.2176	5008	,	,		13619	0.3849		0.2247	False		,,,				2504	0.271															0								A	ARG/LYS	1190,1916		216,758,579	3	4	4		3434	4.1	0.2	6	dbSNP_107	4	1160,5396		106,948,2224	no	missense	TTBK1	NM_032538.1	26	322,1706,2803	GG,GA,AA		17.6937,38.3129,24.3221	possibly-damaging	1145/1322	43251912	2350,7312	1553	3278	4831	SO:0001583	missense	84630			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.3434A>G	6.37:g.43251912A>G	ENSP00000259750:p.Lys1145Arg		A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Missense_Mutation	SNP	ENST00000259750.4	37	CCDS34455.1	736	0.336996336996337	277	0.5630081300813008	84	0.23204419889502761	208	0.36363636363636365	167	0.22031662269129287	A	9.748	1.166668	0.21621	0.383129	0.176937	ENSG00000146216	ENST00000259750	T	0.53423	0.62	5.29	4.08	0.47627	.	0.172570	0.36778	N	0.002403	T	0.25306	0.0615	L	0.50333	1.59	0.09310	P	0.9999999999998821	B	0.14438	0.01	B	0.12156	0.007	T	0.11867	-1.0570	9	0.66056	D	0.02	.	11.146	0.48430	0.845:0.155:0.0:0.0	rs3800297;rs57009954	1145	Q5TCY1	TTBK1_HUMAN	R	1145	ENSP00000259750:K1145R	ENSP00000259750:K1145R	K	+	2	0	TTBK1	43359890	0.052000	0.20516	0.223000	0.23860	0.069000	0.16628	0.476000	0.22180	0.807000	0.34208	0.454000	0.30748	AAG		0.701	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3			G	43251912	A	G	43251912	3	3	733	1	0	0	0	0	1	0	0	0	16681	72	3	3	3484	3	TTBK1	6	43251912	Missense_Mutation	SNP	A	TCGA-KN-8427-01A-11D-2310-10	12296991	43251912	127863155	47	41338											
RFX6	222546	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	6	117248566	117248566	+	Silent	SNP	G	G	T	rs374248308		TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr6:117248566G>T	ENST00000332958.2	+	17	2278	c.2262G>T	c.(2260-2262)ccG>ccT	p.P754P		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	754					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CCCGGCCACCGTCTAGCTATG	0.512																																																0													56	54	55					6																	117248566		2203	4300	6503	SO:0001819	synonymous_variant	222546			BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"regulatory factor X domain containing 1"	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.2262G>T	6.37:g.117248566G>T			Q5T6B3	Silent	SNP	ENST00000332958.2	37	CCDS5113.1																																																																																				0.512	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		T	117248566	G	T	117248566	2	4	733	1	0	0	0	0	0	0	0	1	13273	1132	40	4		4	RFX6	6	117248566	Silent	SNP	G	TCGA-KN-8427-01A-11D-2310-10	73996654	117248566	53866501	48	41339											
C7orf57	136288	ucsc.edu	37	7	48080990	48080990	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr7:48080990T>C	ENST00000348904.3	+	3	327	c.115T>C	c.(115-117)Tcc>Ccc	p.S39P	C7orf57_ENST00000539619.1_Missense_Mutation_p.S39P|C7orf57_ENST00000435376.1_5'UTR|C7orf57_ENST00000430738.1_Missense_Mutation_p.S84P|C7orf57_ENST00000420324.1_Missense_Mutation_p.S84P	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN	chromosome 7 open reading frame 57	39										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						CCCACCAGCGTCCCAGATCCC	0.537																																																0													53	57	55					7																	48080990		1924	4144	6068	SO:0001583	missense	136288			BC031107	CCDS47583.1, CCDS59054.1, CCDS75594.1	7p12.3	2011-11-25			ENSG00000164746	ENSG00000164746			22247	protein-coding gene	gene with protein product							Standard	NM_001100159		Approved		uc003toh.5	Q8NEG2	OTTHUMG00000155808	ENST00000348904.3:c.115T>C	7.37:g.48080990T>C	ENSP00000335500:p.Ser39Pro		C9JBJ8	Missense_Mutation	SNP	ENST00000348904.3	37	CCDS47583.1	.	.	.	.	.	.	.	.	.	.	T	17.06	3.292391	0.59976	.	.	ENSG00000164746	ENST00000420324;ENST00000430738;ENST00000348904;ENST00000539619	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.67144	0.2862	M	0.84326	2.69	0.52501	D	0.999958	D	0.89917	1.0	D	0.91635	0.999	T	0.72544	-0.4261	10	0.87932	D	0	-19.8225	13.8893	0.63729	0.0:0.0:0.0:1.0	.	39	Q8NEG2	CG057_HUMAN	P	84;84;39;39	ENSP00000394648:S84P;ENSP00000410944:S84P;ENSP00000335500:S39P;ENSP00000442474:S39P	ENSP00000335500:S39P	S	+	1	0	C7orf57	48047515	0.999000	0.42202	0.905000	0.35620	0.156000	0.22039	4.996000	0.63914	2.156000	0.67533	0.460000	0.39030	TCC		0.537	C7orf57-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341745.1	NM_001100159		C	48080990	T	C	48080990	3	2	733	1	0	0	0	0	1	0	0	0	2406	1667	58	3	121	3	C7orf57	7	48080990	Missense_Mutation	SNP	T	TCGA-KN-8427-01A-11D-2310-10		48080990	111057673	49	41340											
SRCRB4D	136853	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	7	76021323	76021323	+	Missense_Mutation	SNP	C	C	G			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr7:76021323C>G	ENST00000275560.3	-	10	1716	c.1369G>C	c.(1369-1371)Ggt>Cgt	p.G457R	SRCRB4D_ENST00000492979.2_5'UTR	NM_080744.1	NP_542782.1														autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						GTCTCAGAACCATCCTGCTGG	0.592																																																0													50	37	41					7																	76021323		2202	4298	6500	SO:0001583	missense	136853																														ENST00000275560.3:c.1369G>C	7.37:g.76021323C>G	ENSP00000275560:p.Gly457Arg			Missense_Mutation	SNP	ENST00000275560.3	37	CCDS5585.1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.096466	0.36952	.	.	ENSG00000146700	ENST00000275560	T	0.01240	5.12	4.81	4.81	0.61882	.	0.638678	0.16561	N	0.209050	T	0.01870	0.0059	L	0.27053	0.805	0.33951	D	0.644428	D	0.62365	0.991	P	0.47470	0.548	T	0.65582	-0.6133	10	0.17369	T	0.5	.	13.5728	0.61856	0.0:1.0:0.0:0.0	.	457	Q8WTU2	SRB4D_HUMAN	R	457	ENSP00000275560:G457R	ENSP00000275560:G457R	G	-	1	0	SRCRB4D	75859259	0.026000	0.19158	0.815000	0.32552	0.889000	0.51656	0.462000	0.21956	2.679000	0.91253	0.491000	0.48974	GGT		0.592	SRCRB4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253001.3			G	76021323	C	G	76021323	3	3	733	1	0	0	0	0	1	0	0	0	15142	594	21	4	366	4	SRCRB4D	7	76021323	Missense_Mutation	SNP	C	TCGA-KN-8427-01A-11D-2310-10	27940333	76021323	83117340	50	41341											
SEMA3A	10371	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	7	83590705	83590705	+	Silent	SNP	C	C	T			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr7:83590705C>T	ENST00000265362.4	-	17	2612	c.2298G>A	c.(2296-2298)agG>agA	p.R766R	SEMA3A_ENST00000436949.1_Silent_p.R766R	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	766	Arg/Lys-rich (basic).				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						TCCTGGGTGCCCTCTCAAATT	0.433																																																0													153	155	154					7																	83590705		2203	4300	6503	SO:0001819	synonymous_variant	10371			L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10723	protein-coding gene	gene with protein product	"sema III"	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.2298G>A	7.37:g.83590705C>T				Silent	SNP	ENST00000265362.4	37	CCDS5599.1																																																																																				0.433	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2	NM_006080		T	83590705	C	T	83590705	2	4	733	1	0	0	0	0	0	0	0	1	14030	622	22	2		2	SEMA3A	7	83590705	Silent	SNP	C	TCGA-KN-8427-01A-11D-2310-10	7569382	83590705	75547958	51	41342											
ANKRD7	56311	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	7	117876137	117876137	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr7:117876137C>T	ENST00000265224.4	+	4	666	c.511C>T	c.(511-513)Cca>Tca	p.P171S	ANKRD7_ENST00000417525.1_Missense_Mutation_p.P118S|ANKRD7_ENST00000357099.4_Missense_Mutation_p.P191S|ANKRD7_ENST00000433239.1_Missense_Mutation_p.P118S|ANKRD7_ENST00000477532.1_3'UTR	NM_019644.3	NP_062618.2	Q92527	ANKR7_HUMAN	ankyrin repeat domain 7	171					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						TAACAATAATCCAAAAATGGT	0.279																																																0													77	79	79					7																	117876137		1797	4071	5868	SO:0001583	missense	56311			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.511C>T	7.37:g.117876137C>T	ENSP00000265224:p.Pro171Ser		B4DYF5|Q96QN1|Q9UDM3	Missense_Mutation	SNP	ENST00000265224.4	37	CCDS43638.1	.	.	.	.	.	.	.	.	.	.	C	1.580	-0.531960	0.04112	.	.	ENSG00000106013	ENST00000357099;ENST00000265224;ENST00000417525;ENST00000433239	T;T;T;T	0.52526	1.59;1.59;0.66;0.66	5.3	2.18	0.27775	Ankyrin repeat-containing domain (3);	0.727380	0.11614	N	0.546499	T	0.34571	0.0902	N	0.13299	0.325	0.09310	N	1	B	0.26975	0.165	B	0.34452	0.183	T	0.36915	-0.9728	10	0.42905	T	0.14	-0.2357	11.8021	0.52133	0.0777:0.3361:0.5862:0.0	.	171	Q92527	ANKR7_HUMAN	S	191;171;118;118	ENSP00000349612:P191S;ENSP00000265224:P171S;ENSP00000395595:P118S;ENSP00000388473:P118S	ENSP00000265224:P171S	P	+	1	0	ANKRD7	117663373	0.881000	0.30235	0.059000	0.19551	0.049000	0.14656	1.244000	0.32778	0.725000	0.32318	-0.479000	0.04858	CCA		0.279	ANKRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346826.1	NM_001077708		T	117876137	C	T	117876137	3	4	733	1	0	0	0	0	1	0	0	0	686	855	30	2	525	2	ANKRD7	7	117876137	Missense_Mutation	SNP	C	TCGA-KN-8427-01A-11D-2310-10	34285432	117876137	41262526	52	41343											
NOM1	64434	broad.mit.edu	37	7	156752565	156752567	+	In_Frame_Del	DEL	GGC	GGC	-			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	GGC	GGC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr7:156752565_156752567delGGC	ENST00000275820.3	+	4	1344_1346	c.1329_1331delGGC	c.(1327-1332)gaggca>gaa	p.A444del	NOM1_ENST00000460332.1_3'UTR	NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	444	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.					nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		ACTTTCTGGAGGCAGTGGTGAGG	0.448																																																0																																										SO:0001651	inframe_deletion	64434			AF107455	CCDS34787.1	7q36.3	2014-06-13	2005-03-30	2005-03-30	ENSG00000146909	ENSG00000146909			13244	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 113"	611269	"chromosome 7 open reading frame 3"	C7orf3		10329000	Standard	XM_005249560		Approved	SGD1, PPP1R113	uc003wmy.3	Q5C9Z4	OTTHUMG00000152639	ENST00000275820.3:c.1329_1331delGGC	7.37:g.156752565_156752567delGGC	ENSP00000275820:p.Ala444del		Q96I08	In_Frame_Del	DEL	ENST00000275820.3	37	CCDS34787.1																																																																																				0.448	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327098.1	NM_138400		-	156752567	GGC	-	156752565	7	5	733	1	0	1	0	1	0	0	0	0	10532	991	35	0	1343	0	NOM1	7	156752565	In_Frame_Del	DEL	GGC	TCGA-KN-8427-01A-11D-2310-10	38876428	156752565	2386098	53	41344	382	4									
NOM1	64434	bcgsc.ca	37	7	156752566	156752568	+	In_Frame_Del	DEL	GGC	GGC	-			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	GGC	GGC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr7:156752566_156752568delGGC	ENST00000275820.3	+	4	1345_1347	c.1330_1332delGGC	c.(1330-1332)ggcdel	p.G444del	NOM1_ENST00000460332.1_3'UTR	NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	444	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.					nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		CTTTCTGGAGGCAGTGGTGAGGA	0.453																																																0																																										SO:0001651	inframe_deletion	64434			AF107455	CCDS34787.1	7q36.3	2014-06-13	2005-03-30	2005-03-30	ENSG00000146909	ENSG00000146909			13244	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 113"	611269	"chromosome 7 open reading frame 3"	C7orf3		10329000	Standard	XM_005249560		Approved	SGD1, PPP1R113	uc003wmy.3	Q5C9Z4	OTTHUMG00000152639	ENST00000275820.3:c.1330_1332delGGC	7.37:g.156752566_156752568delGGC	ENSP00000275820:p.Gly444del		Q96I08	In_Frame_Del	DEL	ENST00000275820.3	37	CCDS34787.1																																																																																				0.453	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327098.1	NM_138400		-	156752568	GGC	-	156752566	7	5	733	1	0	1	0	1	0	0	0	0	10532	1203	42	0	1344	0	NOM1	7	156752566	In_Frame_Del	DEL	GGC	TCGA-KN-8427-01A-11D-2310-10	1	156752566	2386097	54	41345	382	4									
NOM1	64434	broad.mit.edu	37	7	156752569	156752570	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	GT	GT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr7:156752569_156752570delGT	ENST00000275820.3	+	4	1348_1349	c.1333_1334delGT	c.(1333-1335)gtgfs	p.V446fs	NOM1_ENST00000460332.1_3'UTR	NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	446	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.					nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		TCTGGAGGCAGTGGTGAGGAAG	0.45																																																0																																										SO:0001589	frameshift_variant	64434			AF107455	CCDS34787.1	7q36.3	2014-06-13	2005-03-30	2005-03-30	ENSG00000146909	ENSG00000146909			13244	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 113"	611269	"chromosome 7 open reading frame 3"	C7orf3		10329000	Standard	XM_005249560		Approved	SGD1, PPP1R113	uc003wmy.3	Q5C9Z4	OTTHUMG00000152639	ENST00000275820.3:c.1333_1334delGT	7.37:g.156752569_156752570delGT	ENSP00000275820:p.Val446fs		Q96I08	Frame_Shift_Del	DEL	ENST00000275820.3	37	CCDS34787.1																																																																																				0.45	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327098.1	NM_138400		-	156752570	GT	-	156752569	7	5	733	1	0	1	0	1	0	0	0	0	10532	1029	36	0	1347	0	NOM1	7	156752569	Frame_Shift_Del	DEL	GT	TCGA-KN-8427-01A-11D-2310-10	3	156752569	2386094	55	41346	382	4									
NOM1	64434	bcgsc.ca	37	7	156752570	156752571	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	GT	GT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr7:156752570_156752571delGT	ENST00000275820.3	+	4	1349_1350	c.1334_1335delGT	c.(1333-1335)ggtfs	p.G445fs	NOM1_ENST00000460332.1_3'UTR	NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	445	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.					nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		CTGGAGGCAGTGGTGAGGAAGT	0.455																																																0																																										SO:0001589	frameshift_variant	64434			AF107455	CCDS34787.1	7q36.3	2014-06-13	2005-03-30	2005-03-30	ENSG00000146909	ENSG00000146909			13244	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 113"	611269	"chromosome 7 open reading frame 3"	C7orf3		10329000	Standard	XM_005249560		Approved	SGD1, PPP1R113	uc003wmy.3	Q5C9Z4	OTTHUMG00000152639	ENST00000275820.3:c.1334_1335delGT	7.37:g.156752570_156752571delGT	ENSP00000275820:p.Gly445fs		Q96I08	Frame_Shift_Del	DEL	ENST00000275820.3	37	CCDS34787.1																																																																																				0.455	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327098.1	NM_138400		-	156752571	GT	-	156752570	7	5	733	1	0	1	0	1	0	0	0	0	10532	1696	59	0	1348	0	NOM1	7	156752570	Frame_Shift_Del	DEL	GT	TCGA-KN-8427-01A-11D-2310-10	1	156752570	2386093	56	41347	382	4									
SCARA5	286133	mdanderson.org	37	8	27779545	27779545	+	Silent	SNP	C	C	T	rs10103504	byFrequency	TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr8:27779545C>T	ENST00000354914.3	-	4	944	c.459G>A	c.(457-459)ctG>ctA	p.L153L	SCARA5_ENST00000524352.1_Silent_p.L153L|SCARA5_ENST00000518030.1_Silent_p.L110L|SCARA5_ENST00000380385.2_Intron|SCARA5_ENST00000301906.4_Silent_p.L110L	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5	153					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)		GCAGCCCCCACAGCGCGCCCT	0.721													C|||	2857	0.570487	0.3631	0.696	5008	,	,		12321	0.5843		0.6024	False		,,,				2504	0.7147															0								C		1840,2254		503,834,710	4	5	5		459	2.7	1	8	dbSNP_119	5	5071,2913		1733,1605,654	no	coding-synonymous	SCARA5	NM_173833.5		2236,2439,1364	TT,TC,CC		36.4855,44.9438,42.7803		153/496	27779545	6911,5167	2047	3992	6039	SO:0001819	synonymous_variant	286133			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.459G>A	8.37:g.27779545C>T			Q6UXZ1|Q7Z4A1|Q8N4Z7	Silent	SNP	ENST00000354914.3	37	CCDS6064.1																																																																																				0.721	SCARA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255223.2	NM_173833		T	27779545	C	T	27779545	2	4	733	1	0	0	0	0	0	0	0	1	13886	465	17	2		2	SCARA5	8	27779545	Silent	SNP	C	TCGA-KN-8427-01A-11D-2310-10		27779545	118584477	57	41348											
PABPC1	26986	broad.mit.edu	37	8	101724623	101724624	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr8:101724623_101724624insA	ENST00000318607.5	-	7	2066_2067	c.938_939insT	c.(937-939)gagfs	p.E313fs	PABPC1_ENST00000522387.1_Frame_Shift_Ins_p.E281fs|PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000519004.1_Frame_Shift_Ins_p.E268fs	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	313	RRM 4. {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)			ATGGAGAAAACTCTTTCCGGAG	0.297																																																0																																										SO:0001589	frameshift_variant	26986			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.938_939insT	8.37:g.101724623_101724624insA	ENSP00000313007:p.Glu313fs		Q15097|Q93004	Frame_Shift_Ins	INS	ENST00000318607.5	37	CCDS6289.1																																																																																				0.297	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568		A	101724624	-	A	101724623	7	5	733	1	0	1	1	0	0	0	0	0	11365	564	20	0	1003	0	PABPC1	8	101724623	Frame_Shift_Ins	INS	-	TCGA-KN-8427-01A-11D-2310-10	73945078	101724623	44639399	58	41349	383	2									
PABPC1	26986	broad.mit.edu	37	8	101724626	101724627	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	TT	TT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr8:101724626_101724627delTT	ENST00000318607.5	-	7	2063_2064	c.935_936delAA	c.(934-936)aaafs	p.K312fs	PABPC1_ENST00000522387.1_Frame_Shift_Del_p.K280fs|PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000519004.1_Frame_Shift_Del_p.K267fs	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	312	RRM 4. {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)			GAGAAAACTCTTTCCGGAGACG	0.307																																																0																																										SO:0001589	frameshift_variant	26986			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.935_936delAA	8.37:g.101724626_101724627delTT	ENSP00000313007:p.Lys312fs		Q15097|Q93004	Frame_Shift_Del	DEL	ENST00000318607.5	37	CCDS6289.1																																																																																				0.307	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568		-	101724627	TT	-	101724626	7	5	733	1	0	1	0	1	0	0	0	0	11365	1606	56	0	1006	0	PABPC1	8	101724626	Frame_Shift_Del	DEL	TT	TCGA-KN-8427-01A-11D-2310-10	3	101724626	44639396	59	41350	383	2									
DCAF13	81034	hgsc.bcm.edu	37	8	104427572	104427572	+	5'Flank	SNP	T	T	A			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr8:104427572T>A	ENST00000297578.4	-	0	0				DCAF13_ENST00000521971.1_5'Flank|DCAF13_ENST00000521716.1_5'Flank|DCAF13_ENST00000519682.1_5'Flank|SLC25A32_ENST00000543107.1_5'Flank|DCAF13_ENST00000297579.5_Silent_p.T118T	NM_030780.3	NP_110407.2	Q9H2D1	MFTC_HUMAN	solute carrier family 25 (mitochondrial folate carrier), member 32						folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|mitochondrial transport (GO:0006839)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	folic acid transporter activity (GO:0008517)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	9			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)	GTCACGTGACTGGAAGTAGTC	0.637																																																0													38	46	43					8																	104427572		2199	4297	6496	SO:0001631	upstream_gene_variant	25879			AF283645	CCDS6300.1	8q22.3	2013-05-22	2013-03-15		ENSG00000164933	ENSG00000164933		"Solute carriers"	29683	protein-coding gene	gene with protein product		610815	"solute carrier family 25, member 32"			10978331	Standard	NM_030780		Approved	MFTC	uc003yll.4	Q9H2D1	OTTHUMG00000164790		8.37:g.104427572T>A	Exception_encountered		Q96JZ6|Q96SU7	Silent	SNP	ENST00000297578.4	37	CCDS6300.1																																																																																				0.637	SLC25A32-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380290.2	NM_030780		A	104427572	T	A	104427572	1	1	733	0	1	0	0	0	0	0	0	0	4268	1567	55	5		5	DCAF13	8	104427572	5'Flank	SNP	T	TCGA-KN-8427-01A-11D-2310-10	2702946	104427572	41936450	60	41351											
PKHD1L1	93035	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	8	110530424	110530424	+	Silent	SNP	T	T	C			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr8:110530424T>C	ENST00000378402.5	+	73	11822	c.11718T>C	c.(11716-11718)acT>acC	p.T3906T		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3906					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)			TGGATTCCACTGTCCTTGGTG	0.363										HNSCC(38;0.096)																																						0													84	76	79					8																	110530424		1866	4089	5955	SO:0001819	synonymous_variant	93035			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.11718T>C	8.37:g.110530424T>C			Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	CCDS47911.1																																																																																				0.363	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		C	110530424	T	C	110530424	2	2	733	1	0	0	0	0	0	0	0	1	11974	1567	55	3		3	PKHD1L1	8	110530424	Silent	SNP	T	TCGA-KN-8427-01A-11D-2310-10	6102852	110530424	35833598	61	41352											
CSMD3	114788	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	8	113988244	113988244	+	Silent	SNP	A	A	G			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr8:113988244A>G	ENST00000297405.5	-	7	1408	c.1164T>C	c.(1162-1164)caT>caC	p.H388H	CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000343508.3_Silent_p.H348H|CSMD3_ENST00000352409.3_Silent_p.H388H	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	388						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						CGGAAAGTCTATGGATGGTGA	0.502										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																						0													198	175	183					8																	113988244		2203	4300	6503	SO:0001819	synonymous_variant	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.1164T>C	8.37:g.113988244A>G			Q96PZ3	Silent	SNP	ENST00000297405.5	37	CCDS6315.1																																																																																				0.502	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		G	113988244	A	G	113988244	2	3	733	1	0	0	0	0	0	0	0	1	3948	446	16	3		3	CSMD3	8	113988244	Silent	SNP	A	TCGA-KN-8427-01A-11D-2310-10	3457820	113988244	32375778	62	41353											
CYP11B1	1584	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	8	143958438	143958438	+	Splice_Site	SNP	C	C	T			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr8:143958438C>T	ENST00000292427.4	-	3	628		c.e3+1		CYP11B1_ENST00000517471.1_Splice_Site|CYP11B1_ENST00000377675.3_Splice_Site	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1						aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	GTGGCCCACACCTTCTATGGT	0.652									Familial Hyperaldosteronism type I																																							0													47	42	43					8																	143958438		2203	4300	6503	SO:0001630	splice_region_variant	1584	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"Cytochrome P450s"	2591	protein-coding gene	gene with protein product	"steroid 11-beta-monooxygenase"	610613	"cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.595+1G>A	8.37:g.143958438C>T			Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Splice_Site	SNP	ENST00000292427.4	37	CCDS6392.1	.	.	.	.	.	.	.	.	.	.	.	8.172	0.791801	0.16258	.	.	ENSG00000160882	ENST00000292427;ENST00000517471;ENST00000377675	.	.	.	3.88	2.99	0.34606	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.9951	0.30263	0.0:0.8784:0.0:0.1216	.	.	.	.	.	-1	.	.	.	-	.	.	CYP11B1	143955440	1.000000	0.71417	0.709000	0.30452	0.058000	0.15608	5.368000	0.66133	0.917000	0.36895	-0.142000	0.14014	.		0.652	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2		Intron	T	143958438	C	T	143958438	5	4	733	1	0	0	0	0	0	0	1	0	4147	521	18	2	943	2	CYP11B1	8	143958438	Splice_Site	SNP	C	TCGA-KN-8427-01A-11D-2310-10	29970194	143958438	2405584	63	41354											
PLEC	5339	mdanderson.org	37	8	144996029	144996029	+	Missense_Mutation	SNP	A	A	G	rs7833924	byFrequency	TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr8:144996029A>G	ENST00000322810.4	-	32	8540	c.8371T>C	c.(8371-8373)Tca>Cca	p.S2791P	PLEC_ENST00000345136.3_Missense_Mutation_p.S2654P|PLEC_ENST00000354958.2_Missense_Mutation_p.S2632P|PLEC_ENST00000398774.2_Missense_Mutation_p.S2622P|PLEC_ENST00000436759.2_Missense_Mutation_p.S2681P|PLEC_ENST00000356346.3_Missense_Mutation_p.S2640P|PLEC_ENST00000527096.1_Missense_Mutation_p.S2677P|PLEC_ENST00000354589.3_Missense_Mutation_p.S2654P|PLEC_ENST00000357649.2_Missense_Mutation_p.S2658P	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2791	Globular 2.		S -> P (in dbSNP:rs7833924).		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						CTCTGAGCTGACACCTTCCGC	0.687													G|||	2337	0.466653	0.8775	0.3674	5008	,	,		16760	0.1429		0.4354	False		,,,				2504	0.3476															0								G	PRO/SER,PRO/SER,PRO/SER,PRO/SER,PRO/SER,PRO/SER,PRO/SER,PRO/SER	3507,739		1479,549,95	13	16	15		8041,7918,7894,8371,7864,7960,7972,7960	1.3	0.6	8	dbSNP_116	15	3635,4801		854,1927,1437	yes	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	74,74,74,74,74,74,74,74	2333,2476,1532	GG,GA,AA		43.0891,17.4046,43.684	benign,benign,benign,benign,benign,benign,benign,benign	2681/4575,2640/4534,2632/4526,2791/4685,2622/4516,2654/4548,2658/4552,2654/4548	144996029	7142,5540	2123	4218	6341	SO:0001583	missense	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.8371T>C	8.37:g.144996029A>G	ENSP00000323856:p.Ser2791Pro		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	CCDS43772.1	978	0.4478021978021978	423	0.8597560975609756	137	0.3784530386740331	94	0.16433566433566432	324	0.42744063324538256	G	9.708	1.156295	0.21454	0.825954	0.430891	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43	4.16	1.26	0.21427	.	0.000000	0.64402	N	0.000006	T	0.00012	0.0000	N	0.05441	-0.05	0.46678	P	8.430000000000382E-4	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	0.01281	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	T	0.42766	-0.9432	9	0.02654	T	1	.	3.6953	0.08361	0.4852:0.1979:0.317:0.0	rs7833924	2681;2640;2632;2791;2622;2654;2658;2654	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	P	2654;2658;2654;2622;2791;2632;2640;2681;2677	ENSP00000344848:S2654P;ENSP00000350277:S2658P;ENSP00000346602:S2654P;ENSP00000381756:S2622P;ENSP00000323856:S2791P;ENSP00000347044:S2632P;ENSP00000348702:S2640P;ENSP00000388180:S2681P;ENSP00000434583:S2677P	ENSP00000323856:S2791P	S	-	1	0	PLEC	145068017	0.803000	0.28956	0.551000	0.28230	0.791000	0.44710	0.441000	0.21611	0.147000	0.19030	-0.380000	0.06706	TCA		0.687	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		G	144996029	A	G	144996029	3	3	733	1	0	0	0	0	1	0	0	0	12054	275	10	3	5687	3	PLEC	8	144996029	Missense_Mutation	SNP	A	TCGA-KN-8427-01A-11D-2310-10	1037591	144996029	1367993	64	41355											
C9orf72	203228	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	9	27556771	27556771	+	Silent	SNP	C	C	T			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr9:27556771C>T	ENST00000380003.3	-	8	942	c.879G>A	c.(877-879)ctG>ctA	p.L293L	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	293					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)		GCCGGAAAGGCAGCACAAAGC	0.363																																																0													127	120	122					9																	27556771		2203	4300	6503	SO:0001819	synonymous_variant	203228			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.879G>A	9.37:g.27556771C>T			A8K5W0|D3DRK6|G8I0B6|Q6NUS9	Silent	SNP	ENST00000380003.3	37	CCDS6522.1																																																																																				0.363	C9orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051969.1	NM_018325		T	27556771	C	T	27556771	2	4	733	1	0	0	0	0	0	0	0	1	2497	697	25	2		2	C9orf72	9	27556771	Silent	SNP	C	TCGA-KN-8427-01A-11D-2310-10		27556771	113656660	65	41356											
C9orf23	138716	broad.mit.edu	37	9	34611014	34611014	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr9:34611014C>T	ENST00000297613.4	-	2	560	c.280G>A	c.(280-282)Gac>Aac	p.D94N	DCTN3_ENST00000479399.1_5'Flank|RPP25L_ENST00000378959.4_Missense_Mutation_p.D94N	NM_148179.2	NP_680545.1	Q8N5L8	RP25L_HUMAN	ribonuclease P/MRP 25kDa subunit-like	94						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)										ACCCAGCTGTCCTCAGTCTGA	0.647																																																0													61	51	55					9																	34611014		2203	4300	6503	SO:0001583	missense	138716			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.280G>A	9.37:g.34611014C>T	ENSP00000297613:p.Asp94Asn		D3DRM5	Missense_Mutation	SNP	ENST00000297613.4	37	CCDS6559.1	.	.	.	.	.	.	.	.	.	.	C	33	5.205854	0.95033	.	.	ENSG00000164967	ENST00000378959;ENST00000297613	.	.	.	4.72	4.72	0.59763	.	0.105878	0.64402	D	0.000004	T	0.71921	0.3397	M	0.76938	2.355	0.52099	D	0.999945	D	0.55605	0.972	P	0.50136	0.632	T	0.78003	-0.2374	9	0.72032	D	0.01	-6.4208	16.8747	0.86048	0.0:1.0:0.0:0.0	.	94	Q8N5L8	CI023_HUMAN	N	94	.	ENSP00000297613:D94N	D	-	1	0	C9orf23	34601014	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.004000	0.76317	2.448000	0.82819	0.643000	0.83706	GAC		0.647	RPP25L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001130.1	NM_148179		T	34611014	C	T	34611014	3	4	733	1	0	0	0	0	1	0	0	0	2476	855	30	2	215	2	C9orf23	9	34611014	Missense_Mutation	SNP	C	TCGA-KN-8427-01A-11D-2310-10	7054243	34611014	106602417	66	41357											
CNTNAP3	79937	mdanderson.org	37	9	39177438	39177438	+	Silent	SNP	G	G	A			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr9:39177438G>A	ENST00000297668.6	-	6	877	c.804C>T	c.(802-804)gaC>gaT	p.D268D	CNTNAP3_ENST00000323947.7_Silent_p.D268D|CNTNAP3_ENST00000377653.2_5'UTR|CNTNAP3_ENST00000377656.2_Silent_p.D268D|CNTNAP3_ENST00000377659.1_Silent_p.D268D|CNTNAP3_ENST00000358144.2_Silent_p.D180D	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	268	Laminin G-like 1. {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)		AGTGCTGGTCGTCCAGCAGGC	0.502																																																0													71	65	67					9																	39177438		2203	4300	6503	SO:0001819	synonymous_variant	79937			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.804C>T	9.37:g.39177438G>A			B1AMA0|Q9C0E9	Silent	SNP	ENST00000297668.6	37	CCDS6616.1																																																																																				0.502	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	NM_033655		A	39177438	G	A	39177438	2	1	733	1	0	0	0	0	0	0	0	1	3650	1136	40	1		1	CNTNAP3	9	39177438	Silent	SNP	G	TCGA-KN-8427-01A-11D-2310-10	4566424	39177438	102035993	67	41358											
ROR2	4920	broad.mit.edu;ucsc.edu;mdanderson.org	37	9	94487339	94487339	+	Silent	SNP	C	C	G			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr9:94487339C>G	ENST00000375708.3	-	9	1635	c.1437G>C	c.(1435-1437)ctG>ctC	p.L479L	ROR2_ENST00000375715.1_Silent_p.L339L|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	479	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						GGTCCTCTCCCAGCTCCTCCA	0.572																																																0													212	241	231					9																	94487339		2203	4300	6503	SO:0001819	synonymous_variant	4920			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.1437G>C	9.37:g.94487339C>G			Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Silent	SNP	ENST00000375708.3	37	CCDS6691.1																																																																																				0.572	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1			G	94487339	C	G	94487339	2	3	733	1	0	0	0	0	0	0	0	1	13533	581	21	4		4	ROR2	9	94487339	Silent	SNP	C	TCGA-KN-8427-01A-11D-2310-10	55309901	94487339	46726092	68	41359											
GARNL3	84253	broad.mit.edu	37	9	130075815	130075815	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr9:130075815C>T	ENST00000373387.4	+	4	767	c.415C>T	c.(415-417)Cgt>Tgt	p.R139C	GARNL3_ENST00000314904.5_Missense_Mutation_p.R139C|GARNL3_ENST00000435213.2_Missense_Mutation_p.R117C	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	139					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)|small GTPase regulator activity (GO:0005083)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						CCCTCAATACCGTGCAATTCT	0.438																																																0													191	170	177					9																	130075815		2203	4300	6503	SO:0001583	missense	84253			BC034983	CCDS6869.2, CCDS69663.1	9q34.13	2009-09-14	2004-08-09		ENSG00000136895	ENSG00000136895			25425	protein-coding gene	gene with protein product			"GTPase activating RANGAP domain-like 3"			11230166	Standard	NM_032293		Approved	DKFZp761J1523, bA356B19.1	uc011mae.2	Q5VVW2	OTTHUMG00000020700	ENST00000373387.4:c.415C>T	9.37:g.130075815C>T	ENSP00000362485:p.Arg139Cys		B4DEP7|B7Z3Q6|Q8IYU1|Q8N951|Q8ND89|Q9BQH6	Missense_Mutation	SNP	ENST00000373387.4	37	CCDS6869.2	.	.	.	.	.	.	.	.	.	.	C	20.3	3.974827	0.74360	.	.	ENSG00000136895	ENST00000439286;ENST00000373399;ENST00000425970;ENST00000435213;ENST00000314904;ENST00000373387	D;D;D;D;D	0.94862	-3.54;-3.54;-3.54;-3.54;-3.54	5.76	4.82	0.62117	.	0.047395	0.85682	D	0.000000	D	0.96436	0.8837	M	0.77103	2.36	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.65874	0.939;0.912	D	0.95525	0.8598	9	.	.	.	.	12.6058	0.56523	0.2495:0.7504:0.0:0.0	.	139;117	Q5VVW2;B7Z3Q6	GARL3_HUMAN;.	C	162;162;117;117;139;139	ENSP00000400579:R162C;ENSP00000411329:R117C;ENSP00000396205:R117C;ENSP00000313970:R139C;ENSP00000362485:R139C	.	R	+	1	0	GARNL3	129115636	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.574000	0.36482	2.871000	0.98454	0.655000	0.94253	CGT		0.438	GARNL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054151.3	NM_032293		T	130075815	C	T	130075815	3	4	733	1	0	0	0	0	1	0	0	0	6243	652	23	1	429	1	GARNL3	9	130075815	Missense_Mutation	SNP	C	TCGA-KN-8427-01A-11D-2310-10	35588476	130075815	11137616	69	41360											
PPAPDC3	84814	mdanderson.org	37	9	134183379	134183379	+	Missense_Mutation	SNP	C	C	T	rs2966332	byFrequency	TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr9:134183379C>T	ENST00000372264.3	+	2	825	c.521C>T	c.(520-522)aCg>aTg	p.T174M		NM_032728.3	NP_116117.3	Q8NBV4	PPAC3_HUMAN	phosphatidic acid phosphatase type 2 domain containing 3	174			T -> M (in dbSNP:rs2966332). {ECO:0000269|PubMed:15489334}.		negative regulation of myotube differentiation (GO:0010832)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	hydrolase activity (GO:0016787)			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16	all_hematologic(7;0.0119)			OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)		CCGTACGAGACGAGCCCCAGC	0.677													C|||	3122	0.623403	0.4047	0.6499	5008	,	,		15990	0.7252		0.7416	False		,,,				2504	0.6738															0								C	MET/THR	2051,2355	561.2+/-380.7	478,1095,630	53	47	49		521	3.5	0.9	9	dbSNP_101	49	6480,2120	710.7+/-405.8	2455,1570,275	yes	missense	PPAPDC3	NM_032728.3	81	2933,2665,905	TT,TC,CC		24.6512,46.5502,34.4072	benign	174/272	134183379	8531,4475	2203	4300	6503	SO:0001583	missense	84814			AK027568	CCDS6942.1	9q34.2-q34.3	2008-02-26	2005-07-15	2005-07-15	ENSG00000160539	ENSG00000160539			28174	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 67"	C9orf67		12958361	Standard	NM_032728		Approved	MGC12921, FLJ14662, NET39	uc004cal.2	Q8NBV4	OTTHUMG00000020822	ENST00000372264.3:c.521C>T	9.37:g.134183379C>T	ENSP00000361338:p.Thr174Met		Q5T6P0|Q96SS7|Q9BRC3	Missense_Mutation	SNP	ENST00000372264.3	37	CCDS6942.1	1420	0.6501831501831502	208	0.42276422764227645	243	0.6712707182320442	413	0.722027972027972	556	0.7335092348284961	C	9.934	1.215704	0.22373	0.465502	0.753488	ENSG00000160539	ENST00000372264	T	0.75050	-0.9	4.68	3.5	0.40072	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.293233	0.40144	N	0.001179	T	0.00012	0.0000	N	0.02854	-0.475	0.09310	P	1.0	B	0.06786	0.001	B	0.06405	0.002	T	0.45934	-0.9227	9	0.30854	T	0.27	-33.1479	3.8455	0.08933	0.0:0.6576:0.0:0.3424	rs2966332;rs17845091;rs17857876;rs58914852;rs2966332	174	Q8NBV4	PPAC3_HUMAN	M	174	ENSP00000361338:T174M	ENSP00000361338:T174M	T	+	2	0	PPAPDC3	133173200	1.000000	0.71417	0.918000	0.36340	0.293000	0.27360	3.020000	0.49643	2.296000	0.77279	0.505000	0.49811	ACG		0.677	PPAPDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054724.1	NM_032728		T	134183379	C	T	134183379	3	4	733	1	0	0	0	0	1	0	0	0	12298	536	19	1	527	1	PPAPDC3	9	134183379	Missense_Mutation	SNP	C	TCGA-KN-8427-01A-11D-2310-10	4107564	134183379	7030052	70	41361											
DCLRE1C	64421	ucsc.edu;mdanderson.org;bcgsc.ca	37	10	14951197	14951197	+	Missense_Mutation	SNP	C	C	G			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr10:14951197C>G	ENST00000378278.2	-	14	1326	c.1289G>C	c.(1288-1290)aGa>aCa	p.R430T	DCLRE1C_ENST00000378258.1_Missense_Mutation_p.R310T|DCLRE1C_ENST00000378289.4_Intron|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.R315T|DCLRE1C_ENST00000378249.1_Missense_Mutation_p.R315T|DCLRE1C_ENST00000453695.2_Missense_Mutation_p.R310T|DCLRE1C_ENST00000378242.1_Missense_Mutation_p.R83T|DCLRE1C_ENST00000378254.1_Missense_Mutation_p.R310T|DCLRE1C_ENST00000492201.1_5'UTR|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.R310T|DCLRE1C_ENST00000357717.2_Missense_Mutation_p.R315T|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.R310T			Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	430					B cell differentiation (GO:0030183)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)|telomere maintenance (GO:0000723)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						TGGGGTTTGTCTCAGTTTTTC	0.428								Non-homologous end-joining																																								0													88	90	90					10																	14951197		2203	4300	6503	SO:0001583	missense	64421			BC022254	CCDS7105.1, CCDS31149.1, CCDS31150.1	10p13	2014-09-17	2010-06-24		ENSG00000152457	ENSG00000152457			17642	protein-coding gene	gene with protein product	"PSO2 homolog (S. cerevisiae)"	605988	"severe combined immunodeficiency, type a (Athabascan)", "DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)"	SCIDA		11336668, 9443881	Standard	XM_005252558		Approved	ARTEMIS, FLJ11360, SNM1C, A-SCID	uc001inn.3	Q96SD1	OTTHUMG00000017716	ENST00000378278.2:c.1289G>C	10.37:g.14951197C>G	ENSP00000367527:p.Arg430Thr		D3DRT6|Q1HCL2|Q5JSR4|Q5JSR5|Q5JSR7|Q5JSR8|Q5JSR9|Q5JSS0|Q5JSS7|Q6PK14|Q8N101|Q8N132|Q8TBW9|Q9BVW9|Q9HAM4	Missense_Mutation	SNP	ENST00000378278.2	37	CCDS31149.1	.	.	.	.	.	.	.	.	.	.	C	3.260	-0.151372	0.06585	.	.	ENSG00000152457	ENST00000453695;ENST00000378246;ENST00000357717;ENST00000378249;ENST00000396817;ENST00000378255;ENST00000378254;ENST00000378278;ENST00000378258;ENST00000378242	T;T;T;T;T;T;T;T;T	0.75589	-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.95;-0.41	5.73	-0.364	0.12553	.	0.988959	0.08284	N	0.969455	T	0.60327	0.2260	L	0.33485	1.01	0.09310	N	1	B;B	0.15141	0.012;0.001	B;B	0.12156	0.007;0.002	T	0.50775	-0.8788	10	0.56958	D	0.05	.	4.8617	0.13587	0.2243:0.4756:0.2203:0.0798	.	315;430	Q96SD1-3;Q96SD1	.;DCR1C_HUMAN	T	310;315;315;315;310;310;310;430;310;83	ENSP00000400529:R310T;ENSP00000367492:R315T;ENSP00000350349:R315T;ENSP00000367496:R315T;ENSP00000380030:R310T;ENSP00000367503:R310T;ENSP00000367502:R310T;ENSP00000367527:R430T;ENSP00000367506:R310T	ENSP00000350349:R315T	R	-	2	0	DCLRE1C	14991203	0.000000	0.05858	0.004000	0.12327	0.092000	0.18411	-0.318000	0.08050	0.031000	0.15407	0.650000	0.86243	AGA		0.428	DCLRE1C-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046934.1	NM_022487		G	14951197	C	G	14951197	3	3	733	1	0	0	0	0	1	0	0	0	4298	913	32	4	793	4	DCLRE1C	10	14951197	Missense_Mutation	SNP	C	TCGA-KN-8427-01A-11D-2310-10		14951197	120583550	71	41362											
C10orf114	399726	broad.mit.edu	37	10	21784654	21784655	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr10:21784654_21784655insC	ENST00000377113.5	-	2	732_733	c.285_286insG	c.(283-288)gggcctfs	p.P96fs	MIR1915_ENST00000410139.1_RNA	NM_001010911.2	NP_001010911.1	Q5T4H9	CSC10_HUMAN	cancer susceptibility candidate 10	96																	GGACGGTCAGGCCCGCCGCTAC	0.668											OREG0020066	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0																																										SO:0001589	frameshift_variant	399726			BC040880	CCDS31163.1	10p12.31	2013-07-17	2013-07-17	2013-07-17	ENSG00000204682	ENSG00000204682			31448	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 114"	C10orf114		21804547	Standard	NM_001010911		Approved	bA418C1.3	uc001iqn.4	Q5T4H9	OTTHUMG00000017795	ENST00000377113.5:c.286dupG	10.37:g.21784657_21784657dupC	ENSP00000366317:p.Pro96fs	751	A1L4M3	Frame_Shift_Ins	INS	ENST00000377113.5	37	CCDS31163.1																																																																																				0.668	CASC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047130.2	NM_001010911		C	21784655	-	C	21784654	7	5	733	1	0	1	1	0	0	0	0	0	1587	1203	42	0	128	0	C10orf114	10	21784654	Frame_Shift_Ins	INS	-	TCGA-KN-8427-01A-11D-2310-10	6833457	21784654	113750093	72	41363											
KIAA1462	57608	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	10	30318485	30318485	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr10:30318485G>A	ENST00000375377.1	-	3	693	c.592C>T	c.(592-594)Cag>Tag	p.Q198*		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	198					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						TCAGACATCTGCCTCCCTAAT	0.483																																																0													192	191	191					10																	30318485		2072	4201	6273	SO:0001587	stop_gained	57608			AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"junctional protein associated with coronary artery disease"	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.592C>T	10.37:g.30318485G>A	ENSP00000364526:p.Gln198*		Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Nonsense_Mutation	SNP	ENST00000375377.1	37	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	G	37	6.049493	0.97236	.	.	ENSG00000165757	ENST00000375377	.	.	.	5.17	5.17	0.71159	.	0.474213	0.22270	N	0.062271	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-15.556	13.6056	0.62046	0.0:0.0:0.8448:0.1552	.	.	.	.	X	198	.	ENSP00000364526:Q198X	Q	-	1	0	KIAA1462	30358491	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	7.033000	0.76504	2.401000	0.81631	0.655000	0.94253	CAG		0.483	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		A	30318485	G	A	30318485	4	1	733	1	0	0	0	0	0	1	0	0	8236	1328	46	2	3495	2	KIAA1462	10	30318485	Nonsense_Mutation	SNP	G	TCGA-KN-8427-01A-11D-2310-10	8533831	30318485	105216262	73	41364											
RTKN2	219790	hgsc.bcm.edu;mdanderson.org	37	10	63957976	63957976	+	Silent	SNP	A	A	C			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr10:63957976A>C	ENST00000373789.3	-	12	1617	c.1521T>G	c.(1519-1521)ccT>ccG	p.P507P	RTKN2_ENST00000315289.2_Intron|RTKN2_ENST00000395265.1_Intron	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	507					hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					TATCAGAAGGAGGAAGGGGAG	0.398																																																0													222	221	221					10																	63957976		2203	4300	6503	SO:0001819	synonymous_variant	219790			BC025765	CCDS7263.1, CCDS73140.1	10q21.3	2013-01-10	2007-12-14	2007-12-14	ENSG00000182010	ENSG00000182010		"Pleckstrin homology (PH) domain containing"	19364	protein-coding gene	gene with protein product			"pleckstrin homology domain containing, family K member 1"	PLEKHK1		15504364	Standard	NM_001282941		Approved	Em:AC024597.2, bA531F24.1, FLJ39352	uc001jlw.3	Q8IZC4	OTTHUMG00000018299	ENST00000373789.3:c.1521T>G	10.37:g.63957976A>C			Q3ZCR1|Q68DZ6|Q8N8K1|Q8TAV2	Silent	SNP	ENST00000373789.3	37	CCDS7263.1																																																																																				0.398	RTKN2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091618.1	NM_145307		C	63957976	A	C	63957976	2	2	733	1	0	0	0	0	0	0	0	1	13729	291	11	5		5	RTKN2	10	63957976	Silent	SNP	A	TCGA-KN-8427-01A-11D-2310-10	33639491	63957976	71576771	74	41365											
DDX50	79009	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	10	70702984	70702984	+	Missense_Mutation	SNP	G	G	C			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr10:70702984G>C	ENST00000373585.3	+	14	2013	c.1906G>C	c.(1906-1908)Gtt>Ctt	p.V636L	DDX50_ENST00000466265.1_3'UTR	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	636						membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						TTGCTTTGATGTTCCTACAAC	0.289																																																0													159	151	154					10																	70702984		2202	4298	6500	SO:0001583	missense	79009			AF334103	CCDS7283.1	10q22.2	2010-09-30			ENSG00000107625	ENSG00000107625		"DEAD-boxes"	17906	protein-coding gene	gene with protein product		610373				11891046	Standard	NM_024045		Approved	GU2, MGC3199, GUB, RH-II/GuB	uc001jou.3	Q9BQ39	OTTHUMG00000018362	ENST00000373585.3:c.1906G>C	10.37:g.70702984G>C	ENSP00000362687:p.Val636Leu		Q5VX37|Q8WV76|Q9BWI8	Missense_Mutation	SNP	ENST00000373585.3	37	CCDS7283.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.078399	0.36662	.	.	ENSG00000107625	ENST00000373585;ENST00000541832	T	0.20881	2.04	5.46	4.54	0.55810	GUCT (1);	0.111139	0.64402	D	0.000011	T	0.17831	0.0428	L	0.32530	0.975	0.41726	D	0.989531	B	0.18863	0.031	B	0.33960	0.173	T	0.07046	-1.0793	10	0.27785	T	0.31	-13.3868	8.7587	0.34661	0.1485:0.0:0.8515:0.0	.	636	Q9BQ39	DDX50_HUMAN	L	636	ENSP00000362687:V636L	ENSP00000362687:V636L	V	+	1	0	DDX50	70372990	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.695000	0.37763	2.715000	0.92844	0.563000	0.77884	GTT		0.289	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048363.1	NM_024045		C	70702984	G	C	70702984	3	2	733	1	0	0	0	0	1	0	0	0	4370	1377	48	4	1960	4	DDX50	10	70702984	Missense_Mutation	SNP	G	TCGA-KN-8427-01A-11D-2310-10	6745008	70702984	64831763	75	41366											
TYSND1	219743	mdanderson.org	37	10	71906150	71906150	+	Missense_Mutation	SNP	T	T	C	rs4746970	byFrequency	TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr10:71906150T>C	ENST00000287078.6	-	1	192	c.193A>G	c.(193-195)Acc>Gcc	p.T65A	TYSND1_ENST00000335494.5_Missense_Mutation_p.T65A|TYSND1_ENST00000494143.1_5'Flank	NM_173555.2	NP_775826.2	Q2T9J0	TYSD1_HUMAN	trypsin domain containing 1	65			T -> A (in dbSNP:rs4746970). {ECO:0000269|PubMed:15489334}.		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						CCGGCCGCGGTCAGGACTTCG	0.726													T|||	1930	0.385383	0.1679	0.513	5008	,	,		13022	0.5327		0.4115	False		,,,				2504	0.41															0								T	ALA/THR,ALA/THR	733,3169		101,531,1319	7	8	8		193,193	2.6	0	10	dbSNP_111	8	2989,4601		673,1643,1479	yes	missense,missense	TYSND1	NM_001040273.1,NM_173555.2	58,58	774,2174,2798	CC,CT,TT		39.3808,18.7852,32.3877	benign,benign	65/399,65/567	71906150	3722,7770	1951	3795	5746	SO:0001583	missense	219743			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.193A>G	10.37:g.71906150T>C	ENSP00000287078:p.Thr65Ala		Q5SQT4|Q5SQU1|Q8N6H2|Q96AR5	Missense_Mutation	SNP	ENST00000287078.6	37	CCDS31213.1	903	0.41346153846153844	77	0.1565040650406504	179	0.494475138121547	330	0.5769230769230769	317	0.4182058047493404	T	3.128	-0.179013	0.06380	0.187852	0.393808	ENSG00000156521	ENST00000287078;ENST00000335494	T;T	0.47177	0.85;0.85	4.98	2.59	0.31030	.	0.704604	0.13805	N	0.361502	T	0.00012	0.0000	L	0.47716	1.5	0.80722	P	0.0	B;B	0.09022	0.002;0.0	B;B	0.08055	0.003;0.001	T	0.42068	-0.9473	9	0.44086	T	0.13	-20.2145	2.3036	0.04168	0.2184:0.3024:0.0:0.4792	rs4746970;rs17854223	65;65	Q2T9J0-2;Q2T9J0	.;TYSD1_HUMAN	A	65	ENSP00000287078:T65A;ENSP00000335673:T65A	ENSP00000287078:T65A	T	-	1	0	TYSND1	71576156	0.001000	0.12720	0.030000	0.17652	0.297000	0.27493	0.483000	0.22292	0.905000	0.36596	0.418000	0.28097	ACC		0.726	TYSND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048483.1	NM_173555		C	71906150	T	C	71906150	3	2	733	1	0	0	0	0	1	0	0	0	16822	1667	58	3	1523	3	TYSND1	10	71906150	Missense_Mutation	SNP	T	TCGA-KN-8427-01A-11D-2310-10	1203166	71906150	63628597	76	41367											
CYP2C9	1559	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	10	96748762	96748762	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr10:96748762C>T	ENST00000260682.6	+	9	1462	c.1450C>T	c.(1450-1452)Cag>Tag	p.Q484*		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	484					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)	GCCCTTCTACCAGCTGTGCTT	0.498																																					Ovarian(54;1266 1406 16072 35076)											0													142	132	136					10																	96748762		2203	4300	6503	SO:0001587	stop_gained	1559			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.1450C>T	10.37:g.96748762C>T	ENSP00000260682:p.Gln484*		P11713|Q16756|Q16872|Q5VX92|Q6IRV8|Q8WW80	Nonsense_Mutation	SNP	ENST00000260682.6	37	CCDS7437.1	.	.	.	.	.	.	.	.	.	.	C	9.226	1.034558	0.19590	.	.	ENSG00000138109	ENST00000260682	.	.	.	3.42	-6.84	0.01687	.	0.591503	0.15177	U	0.276321	.	.	.	.	.	.	0.37381	D	0.912041	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	.	3.6305	0.08130	0.4706:0.2525:0.1957:0.0813	.	.	.	.	X	484	.	ENSP00000260682:Q484X	Q	+	1	0	CYP2C9	96738752	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-1.646000	0.01998	-2.310000	0.00650	0.453000	0.30009	CAG		0.498	CYP2C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049501.1	NM_000771		T	96748762	C	T	96748762	4	4	733	1	0	0	0	0	0	1	0	0	4170	595	21	2	1484	2	CYP2C9	10	96748762	Nonsense_Mutation	SNP	C	TCGA-KN-8427-01A-11D-2310-10	24842612	96748762	38785985	77	41368											
UBTD1	80019	hgsc.bcm.edu	37	10	99329915	99329915	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr10:99329915G>A	ENST00000370664.3	+	3	655	c.319G>A	c.(319-321)Gat>Aat	p.D107N	ANKRD2_ENST00000455090.1_5'Flank|ANKRD2_ENST00000307518.5_5'Flank|ANKRD2_ENST00000370655.1_5'Flank|ANKRD2_ENST00000298808.5_5'Flank	NM_024954.3	NP_079230.1	Q9HAC8	UBTD1_HUMAN	ubiquitin domain containing 1	107										central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(1)	7		Colorectal(252;0.162)		Epithelial(162;3.04e-10)|all cancers(201;2.86e-08)		TGAATGCTACGATGAGCTGGG	0.582																																					Pancreas(100;169 2668 32720)											0													91	103	99					10																	99329915		2203	4300	6503	SO:0001583	missense	80019			BC007331	CCDS7465.1	10q24.2	2005-09-22			ENSG00000165886	ENSG00000165886			25683	protein-coding gene	gene with protein product						12477932	Standard	NM_024954		Approved	FLJ11807	uc001knv.1	Q9HAC8	OTTHUMG00000018856	ENST00000370664.3:c.319G>A	10.37:g.99329915G>A	ENSP00000359698:p.Asp107Asn		D3DR57|Q53HI3	Missense_Mutation	SNP	ENST00000370664.3	37	CCDS7465.1	.	.	.	.	.	.	.	.	.	.	G	32	5.174620	0.94807	.	.	ENSG00000165886	ENST00000370664	T	0.80738	-1.41	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	D	0.91751	0.7391	M	0.90814	3.15	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93167	0.6563	10	0.87932	D	0	-20.3796	18.6768	0.91531	0.0:0.0:1.0:0.0	.	107	Q9HAC8	UBTD1_HUMAN	N	107	ENSP00000359698:D107N	ENSP00000359698:D107N	D	+	1	0	UBTD1	99319905	1.000000	0.71417	0.968000	0.41197	0.946000	0.59487	9.813000	0.99286	2.687000	0.91594	0.655000	0.94253	GAT		0.582	UBTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049701.1	NM_024954		A	99329915	G	A	99329915	3	1	733	1	0	0	0	0	1	0	0	0	16912	1058	37	1	329	1	UBTD1	10	99329915	Missense_Mutation	SNP	G	TCGA-KN-8427-01A-11D-2310-10	2581153	99329915	36204832	78	41369											
DCLRE1A	9937	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	10	115609249	115609249	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr10:115609249G>A	ENST00000361384.2	-	2	2532	c.1615C>T	c.(1615-1617)Cct>Tct	p.P539S	DCLRE1A_ENST00000369305.1_Missense_Mutation_p.P539S	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	539	Nuclear focus formation.				mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)				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)		AGACCAGAAGGCAATATTTTC	0.383								Other identified genes with known or suspected DNA repair function																																								0													125	127	126					10																	115609249		2203	4300	6503	SO:0001583	missense	9937				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.1615C>T	10.37:g.115609249G>A	ENSP00000355185:p.Pro539Ser		D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Missense_Mutation	SNP	ENST00000361384.2	37	CCDS7584.1	.	.	.	.	.	.	.	.	.	.	G	10.16	1.275052	0.23307	.	.	ENSG00000198924	ENST00000361384;ENST00000369305	T;T	0.64991	-0.13;-0.13	5.18	2.31	0.28768	.	0.913298	0.09546	N	0.787542	T	0.53367	0.1792	L	0.56769	1.78	0.09310	N	1	B	0.24721	0.11	B	0.17979	0.02	T	0.41752	-0.9491	10	0.33141	T	0.24	-0.4037	5.248	0.15508	0.2294:0.0:0.6271:0.1435	.	539	Q6PJP8	DCR1A_HUMAN	S	539	ENSP00000355185:P539S;ENSP00000358311:P539S	ENSP00000355185:P539S	P	-	1	0	DCLRE1A	115599239	0.014000	0.17966	0.007000	0.13788	0.322000	0.28314	0.058000	0.14301	0.339000	0.23719	-0.302000	0.09304	CCT		0.383	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050444.1	NM_014881		A	115609249	G	A	115609249	3	1	733	1	0	0	0	0	1	0	0	0	4296	1203	42	2	1539	2	DCLRE1A	10	115609249	Missense_Mutation	SNP	G	TCGA-KN-8427-01A-11D-2310-10	16279334	115609249	19925498	79	41370											
MUC6	4588	mdanderson.org	37	11	1018262	1018262	+	Missense_Mutation	SNP	G	G	T	rs78003962		TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr11:1018262G>T	ENST00000421673.2	-	31	4589	c.4539C>A	c.(4537-4539)caC>caA	p.H1513Q		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1513	Pro-rich.|Thr-rich.				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)		TGAATGAGCTGTGGGCTTGGC	0.542																																																0													227	240	236					11																	1018262		2167	4262	6429	SO:0001583	missense	4588			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.4539C>A	11.37:g.1018262G>T	ENSP00000406861:p.His1513Gln		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.293037	0.00245	.	.	ENSG00000184956	ENST00000421673	T	0.16196	2.36	2.56	-5.11	0.02901	.	.	.	.	.	T	0.08758	0.0217	L	0.37630	1.12	0.09310	N	1	B	0.17667	0.023	B	0.13407	0.009	T	0.38779	-0.9645	9	0.13108	T	0.6	.	2.1779	0.03866	0.2718:0.3724:0.2397:0.116	.	1513	Q6W4X9	MUC6_HUMAN	Q	1513	ENSP00000406861:H1513Q	ENSP00000406861:H1513Q	H	-	3	2	MUC6	1008262	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.824000	0.00747	-2.466000	0.00533	-4.769000	0.00003	CAC		0.542	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		T	1018262	G	T	1018262	3	4	733	1	0	0	0	0	1	0	0	0	9982	1368	48	4	2792	4	MUC6	11	1018262	Missense_Mutation	SNP	G	TCGA-KN-8427-01A-11D-2310-10		1018262	133988254	80	41371											
MUC5B	727897	broad.mit.edu	37	11	1271712	1271713	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr11:1271712_1271713insC	ENST00000529681.1	+	31	13660_13661	c.13602_13603insC	c.(13603-13605)accfs	p.T4535fs	MUC5B_ENST00000447027.1_Frame_Shift_Ins_p.T4538fs|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4535	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)		GCACCACCTGGACCCGCCTATC	0.624																																																0																																										SO:0001589	frameshift_variant	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		Exception_encountered	11.37:g.1271712_1271713insC	ENSP00000436812:p.Thr4535fs		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Frame_Shift_Ins	INS	ENST00000529681.1	37	CCDS44515.2																																																																																				0.624	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		C	1271713	-	C	1271712	7	5	733	1	0	1	1	0	0	0	0	0	9981	1183	41	0	13733	0	MUC5B	11	1271712	Frame_Shift_Ins	INS	-	TCGA-KN-8427-01A-11D-2310-10	253450	1271712	133734804	81	41372											
BRSK2	9024	broad.mit.edu;hgsc.bcm.edu	37	11	1466625	1466625	+	Missense_Mutation	SNP	G	G	A	rs200112243		TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr11:1466625G>A	ENST00000528841.1	+	10	1298	c.914G>A	c.(913-915)aGc>aAc	p.S305N	BRSK2_ENST00000382179.1_Missense_Mutation_p.S351N|BRSK2_ENST00000528710.1_Missense_Mutation_p.S245N|BRSK2_ENST00000308230.5_Missense_Mutation_p.S305N|BRSK2_ENST00000531197.1_Missense_Mutation_p.S305N|BRSK2_ENST00000526678.1_Missense_Mutation_p.S305N|BRSK2_ENST00000308219.9_Missense_Mutation_p.S305N|BRSK2_ENST00000544817.1_5'UTR			Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	305	UBA.				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)		GTGCTGGACAGCATGCACTCA	0.672																																																0													33	41	39					11																	1466625		2133	4244	6377	SO:0001583	missense	9024			AF020089	CCDS41590.1, CCDS58106.1, CCDS58107.1, CCDS58108.1, CCDS60696.1	11p15.5	2008-02-05	2003-09-11	2005-01-27	ENSG00000174672	ENSG00000174672			11405	protein-coding gene	gene with protein product	"serine/threonine kinase 29"	609236	"chromsosome 11 open reading frame 7"	C11orf7, STK29		9852686, 9929968	Standard	NM_001256629		Approved	PEN11B	uc001ltm.4	Q8IWQ3	OTTHUMG00000167089	ENST00000528841.1:c.914G>A	11.37:g.1466625G>A	ENSP00000432000:p.Ser305Asn		B3KVE9|E9PLM7|O60843|O95099|Q5J5B4|Q6ZMQ4|Q8TB60	Missense_Mutation	SNP	ENST00000528841.1	37	CCDS58107.1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.749752	0.69533	.	.	ENSG00000174672	ENST00000308219;ENST00000531197;ENST00000308230;ENST00000528841;ENST00000526678;ENST00000528710;ENST00000382179	T;T;T;T;T;T;T	0.72505	-0.66;-0.66;-0.63;-0.66;-0.63;-0.47;-0.49	3.55	3.55	0.40652	Protein kinase-like domain (1);	0.000000	0.85682	U	0.000000	D	0.82779	0.5111	M	0.78637	2.42	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.996;0.999;0.998;0.997	D;D;D;D;D	0.91635	0.999;0.986;0.999;0.954;0.962	T	0.82589	-0.0382	10	0.31617	T	0.26	.	15.6596	0.77174	0.0:0.0:1.0:0.0	.	305;351;305;305;305	Q8IWQ3-4;Q8IWQ3-5;Q8IWQ3-3;Q8IWQ3;Q8IWQ3-2	.;.;.;BRSK2_HUMAN;.	N	305;305;305;305;305;245;351	ENSP00000310697:S305N;ENSP00000431152:S305N;ENSP00000310805:S305N;ENSP00000432000:S305N;ENSP00000433370:S305N;ENSP00000433235:S245N;ENSP00000371614:S351N	ENSP00000310697:S305N	S	+	2	0	BRSK2	1423201	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.367000	0.79558	1.993000	0.58246	0.462000	0.41574	AGC		0.672	BRSK2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393033.1	NM_003957		A	1466625	G	A	1466625	3	1	733	1	0	0	0	0	1	0	0	0	1526	971	34	2	952	2	BRSK2	11	1466625	Missense_Mutation	SNP	G	TCGA-KN-8427-01A-11D-2310-10	194913	1466625	133539891	82	41373											
MS4A5	64232	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	11	60198312	60198312	+	Missense_Mutation	SNP	T	T	G			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr11:60198312T>G	ENST00000300190.2	+	2	283	c.197T>G	c.(196-198)gTt>gGt	p.V66G	MS4A5_ENST00000534071.1_Intron	NM_023945.2	NP_076434.2	Q9H3V2	MS4A5_HUMAN	membrane-spanning 4-domains, subfamily A, member 5	66						integral component of membrane (GO:0016021)				large_intestine(7)|lung(7)|ovary(1)|skin(1)	16						TCTTTTGGAGTTATCTTCCTT	0.373																																																0													241	236	238					11																	60198312		2203	4300	6503	SO:0001583	missense	64232			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.197T>G	11.37:g.60198312T>G	ENSP00000300190:p.Val66Gly		Q9BZH1	Missense_Mutation	SNP	ENST00000300190.2	37	CCDS7987.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	4.573|4.573	0.106380|0.106380	0.08780|0.08780	.|.	.|.	ENSG00000166930|ENSG00000166930	ENST00000528905|ENST00000300190	.|T	.|0.02280	.|4.36	4.82|4.82	2.48|2.48	0.30137|0.30137	.|.	.|0.667620	.|0.14473	.|N	.|0.317428	T|T	0.02727|0.02727	0.0082|0.0082	L|L	0.46885|0.46885	1.475|1.475	0.09310|0.09310	N|N	0.999997|0.999997	.|B	.|0.20887	.|0.049	.|B	.|0.29716	.|0.106	T|T	0.43130|0.43130	-0.9410|-0.9410	5|10	.|0.29301	.|T	.|0.29	-0.5522|-0.5522	5.1697|5.1697	0.15103|0.15103	0.0:0.2396:0.0:0.7604|0.0:0.2396:0.0:0.7604	.|.	.|66	.|Q9H3V2	.|MS4A5_HUMAN	R|G	39|66	.|ENSP00000300190:V66G	.|ENSP00000300190:V66G	S|V	+|+	3|2	2|0	MS4A5|MS4A5	59954888|59954888	0.026000|0.026000	0.19158|0.19158	0.001000|0.001000	0.08648|0.08648	0.006000|0.006000	0.05464|0.05464	1.186000|1.186000	0.32078|0.32078	0.882000|0.882000	0.36016|0.36016	0.533000|0.533000	0.62120|0.62120	AGT|GTT		0.373	MS4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395392.1			G	60198312	T	G	60198312	3	3	733	1	0	0	0	0	1	0	0	0	9865	1725	60	5	203	5	MS4A5	11	60198312	Missense_Mutation	SNP	T	TCGA-KN-8427-01A-11D-2310-10	58731687	60198312	74808204	83	41374											
MACROD1	28992	mdanderson.org	37	11	63767186	63767186	+	Silent	SNP	A	A	G	rs709594	byFrequency	TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr11:63767186A>G	ENST00000255681.6	-	6	780	c.714T>C	c.(712-714)agT>agC	p.S238S	OTUB1_ENST00000535715.1_Intron	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1	238	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				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						CGGCAGCCTGACTGGCGCTGG	0.726													G|||	2143	0.427915	0.736	0.2493	5008	,	,		10778	0.1379		0.4463	False		,,,				2504	0.4182															0								G		2959,1321		1069,821,250	10	13	12		714	3.8	1	11	dbSNP_86	12	3770,4672		906,1958,1357	no	coding-synonymous	MACROD1	NM_014067.3		1975,2779,1607	GG,GA,AA		44.6577,30.8645,47.1074		238/326	63767186	6729,5993	2140	4221	6361	SO:0001819	synonymous_variant	28992			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.714T>C	11.37:g.63767186A>G			Q9UH96	Silent	SNP	ENST00000255681.6	37	CCDS8056.1																																																																																				0.726	MACROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396570.1	NM_014067		G	63767186	A	G	63767186	2	3	733	1	0	0	0	0	0	0	0	1	9147	272	10	3		3	MACROD1	11	63767186	Silent	SNP	A	TCGA-KN-8427-01A-11D-2310-10	3568874	63767186	71239330	84	41375											
GAL3ST3	89792	hgsc.bcm.edu;mdanderson.org	37	11	65811123	65811124	+	Missense_Mutation	DNP	AG	AG	CT			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	AG	AG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr11:65811123_65811124AG>CT	ENST00000312006.4	-	3	431_432	c.150_151CT>AG	c.(148-153)agCTgc>agAGgc	p.50_51SC>RG	GAL3ST3_ENST00000527878.1_Missense_Mutation_p.50_51SC>RG	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	50					monosaccharide metabolic process (GO:0005996)|oligosaccharide metabolic process (GO:0009311)|poly-N-acetyllactosamine metabolic process (GO:0030309)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|carbohydrate binding (GO:0030246)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			kidney(1)|lung(9)|ovary(2)|skin(2)	14						AGAGGAGGGCAGCTCAAGGGGA	0.644																																																0																																										SO:0001583	missense	89792			AY026481	CCDS8128.1	11q13.1	2014-08-12			ENSG00000175229	ENSG00000175229		"Sulfotransferases, membrane-bound"	24144	protein-coding gene	gene with protein product		608234				11323440, 11356829	Standard	NM_033036		Approved	GAL3ST2	uc001ogw.3	Q96A11	OTTHUMG00000166667	ENST00000312006.4:c.150_151delinsCT	11.37:g.65811123_65811124delinsCT	ENSP00000308591:p.S50_C51delinsRG		Q14D05	Missense_Mutation	DNP	ENST00000312006.4	37	CCDS8128.1																																																																																				0.644	GAL3ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391052.1	NM_033036		CT	65811124	AG	CT	65811123	3	2	733	1	0	0	0	0	1	0	0	0	6201	188	7	5	1148	5	GAL3ST3	11	65811123	Missense_Mutation	DNP	AG	TCGA-KN-8427-01A-11D-2310-10	2043937	65811123	69195393	85	41376	384	2									
GAL3ST3	89792	broad.mit.edu;bcgsc.ca	37	11	65811124	65811124	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr11:65811124G>T	ENST00000312006.4	-	3	431	c.150C>A	c.(148-150)agC>agA	p.S50R	GAL3ST3_ENST00000527878.1_Missense_Mutation_p.S50R	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	50					monosaccharide metabolic process (GO:0005996)|oligosaccharide metabolic process (GO:0009311)|poly-N-acetyllactosamine metabolic process (GO:0030309)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|carbohydrate binding (GO:0030246)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			kidney(1)|lung(9)|ovary(2)|skin(2)	14						GAGGAGGGCAGCTCAAGGGGA	0.647																																																0													19	16	17					11																	65811124		2171	4254	6425	SO:0001583	missense	89792			AY026481	CCDS8128.1	11q13.1	2014-08-12			ENSG00000175229	ENSG00000175229		"Sulfotransferases, membrane-bound"	24144	protein-coding gene	gene with protein product		608234				11323440, 11356829	Standard	NM_033036		Approved	GAL3ST2	uc001ogw.3	Q96A11	OTTHUMG00000166667	ENST00000312006.4:c.150C>A	11.37:g.65811124G>T	ENSP00000308591:p.Ser50Arg		Q14D05	Missense_Mutation	SNP	ENST00000312006.4	37	CCDS8128.1	.	.	.	.	.	.	.	.	.	.	G	9.315	1.056628	0.19907	.	.	ENSG00000175229	ENST00000312006;ENST00000527878	T;T	0.16457	2.34;2.34	4.11	3.19	0.36642	.	0.458205	0.21075	N	0.080594	T	0.10121	0.0248	N	0.14661	0.345	0.32681	N	0.515536	B	0.33413	0.411	B	0.37198	0.243	T	0.13872	-1.0493	10	0.21540	T	0.41	-32.6987	9.5646	0.39391	0.1062:0.0:0.8938:0.0	.	50	Q96A11	G3ST3_HUMAN	R	50	ENSP00000308591:S50R;ENSP00000434829:S50R	ENSP00000308591:S50R	S	-	3	2	GAL3ST3	65567700	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	3.565000	0.53798	2.295000	0.77249	0.462000	0.41574	AGC		0.647	GAL3ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391052.1	NM_033036		T	65811124	G	T	65811124	3	4	733	1	0	0	0	0	1	0	0	0	6201	962	34	4	1149	4	GAL3ST3	11	65811124	Missense_Mutation	SNP	G	TCGA-KN-8427-01A-11D-2310-10	1	65811124	69195392	86	41377	384	2									
MMP12	4321	broad.mit.edu;ucsc.edu;mdanderson.org	37	11	102737125	102737125	+	RNA	SNP	A	A	C			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr11:102737125A>C	ENST00000532855.1	-	0	1061							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	GCCATAAGGAAGAAATTAAAT	0.353																																																0													72	75	74					11																	102737125		1822	4080	5902			4321			L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"matrix metalloproteinase 12 (macrophage elastase)"				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102737125A>C			B2R9X8|B7ZLF6|Q2M1L9	Silent	SNP	ENST00000532855.1	37																																																																																					0.353	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1	NM_002426		C	102737125	A	C	102737125	1	2	733	0	1	0	0	0	0	0	0	0	9653	59	3	5		5	MMP12	11	102737125	RNA	SNP	A	TCGA-KN-8427-01A-11D-2310-10	36926001	102737125	32269391	87	41378											
GRIA4	2893	ucsc.edu;mdanderson.org;bcgsc.ca	37	11	105776029	105776029	+	Splice_Site	SNP	T	T	G			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr11:105776029T>G	ENST00000530497.1	+	8	1158		c.e8+2		GRIA4_ENST00000393127.2_Splice_Site|GRIA4_ENST00000525187.1_Splice_Site|GRIA4_ENST00000393125.2_Splice_Site|GRIA4_ENST00000282499.5_Splice_Site|GRIA4_ENST00000428631.2_Splice_Site			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)		CCTAGAAAGGTGAGCCACGAT	0.383																																																0													105	96	99					11																	105776029		2202	4299	6501	SO:0001630	splice_region_variant	2893			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.1158+2T>G	11.37:g.105776029T>G			Q86XE8	Splice_Site	SNP	ENST00000530497.1	37	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	t	25.8	4.678395	0.88542	.	.	ENSG00000152578	ENST00000393125;ENST00000282499;ENST00000393127;ENST00000428631;ENST00000530497;ENST00000525187	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3825	0.83473	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	GRIA4	105281239	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	7.624000	0.83124	2.323000	0.78572	0.529000	0.55759	.		0.383	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1		Intron	G	105776029	T	G	105776029	5	3	733	1	0	0	0	0	0	0	1	0	6772	1710	59	5	1190	5	GRIA4	11	105776029	Splice_Site	SNP	T	TCGA-KN-8427-01A-11D-2310-10	3038904	105776029	29230487	88	41379											
NTM	50863	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	11	132081945	132081945	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr11:132081945G>T	ENST00000374786.1	+	3	909	c.430G>T	c.(430-432)Gat>Tat	p.D144Y	NTM_ENST00000425719.2_Missense_Mutation_p.D144Y|NTM_ENST00000374784.1_Missense_Mutation_p.D144Y|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000374791.3_Missense_Mutation_p.D144Y|NTM_ENST00000427481.2_Missense_Mutation_p.D135Y|NTM_ENST00000539799.1_Missense_Mutation_p.D144Y	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	144	Ig-like C2-type 2.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						GATTTCTTCAGATATCTCCAT	0.383																																																0													86	85	85					11																	132081945		2201	4297	6498	SO:0001583	missense	50863			AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"Immunoglobulin superfamily / I-set domain containing"	17941	protein-coding gene	gene with protein product	"neurotrimin", "IgLON family member 2"	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.430G>T	11.37:g.132081945G>T	ENSP00000363918:p.Asp144Tyr		A0MTT2|Q6UXJ3|Q86VJ9	Missense_Mutation	SNP	ENST00000374786.1	37	CCDS8491.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052330	0.75960	.	.	ENSG00000182667	ENST00000374791;ENST00000539799;ENST00000550167;ENST00000427481;ENST00000374786;ENST00000425719;ENST00000374784	T;T;T;T;T;T;T	0.70045	1.5;1.5;-0.45;1.5;1.5;1.5;1.5	5.87	5.87	0.94306	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.141134	0.64402	D	0.000005	T	0.79947	0.4534	M	0.90252	3.1	0.58432	D	0.999999	P;P;P;P;P;P	0.52170	0.951;0.951;0.717;0.871;0.717;0.844	P;P;B;P;B;B	0.52189	0.692;0.562;0.349;0.562;0.349;0.426	D	0.83633	0.0146	10	0.87932	D	0	-20.5157	13.7487	0.62894	0.0701:0.0:0.9299:0.0	.	144;135;144;144;144;144	B7Z1Z5;B7Z1I4;Q9P121-4;Q9P121;Q9P121-3;Q9P121-2	.;.;.;NTRI_HUMAN;.;.	Y	144;144;135;135;144;144;144	ENSP00000363923:D144Y;ENSP00000437668:D144Y;ENSP00000448104:D135Y;ENSP00000416320:D135Y;ENSP00000363918:D144Y;ENSP00000396722:D144Y;ENSP00000363916:D144Y	ENSP00000363916:D144Y	D	+	1	0	NTM	131587155	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.891000	0.69782	2.941000	0.99782	0.655000	0.94253	GAT		0.383	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	NM_016522		T	132081945	G	T	132081945	3	4	733	1	0	0	0	0	1	0	0	0	10701	942	33	4	526	4	NTM	11	132081945	Missense_Mutation	SNP	G	TCGA-KN-8427-01A-11D-2310-10	26305916	132081945	2924571	89	41380											
A2M	2	bcgsc.ca	37	12	9253745	9253745	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr12:9253745T>C	ENST00000318602.7	-	13	1860	c.1553A>G	c.(1552-1554)gAa>gGa	p.E518G		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	518					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)	CTCACTGTCTTCCTGCTTCAC	0.428																																																0													60	71	68					12																	9253745		1969	4151	6120	SO:0001583	missense	2			BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.1553A>G	12.37:g.9253745T>C	ENSP00000323929:p.Glu518Gly		Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	ENST00000318602.7	37	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	T	0.003	-2.476010	0.00165	.	.	ENSG00000175899	ENST00000318602;ENST00000540099	T	0.64803	-0.12	4.93	-0.411	0.12370	Alpha-2-macroglobulin, N-terminal 2 (1);	0.997527	0.08122	N	0.994535	T	0.18467	0.0443	N	0.00099	-2.14	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.31641	-0.9936	10	0.02654	T	1	.	8.7772	0.34769	0.0:0.4879:0.0:0.5121	.	518	P01023	A2MG_HUMAN	G	518;533	ENSP00000323929:E518G	ENSP00000323929:E518G	E	-	2	0	A2M	9145012	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-0.127000	0.10547	-0.243000	0.09653	-1.145000	0.01858	GAA		0.428	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		C	9253745	T	C	9253745	3	2	733	1	0	0	0	0	1	0	0	0	4	1783	62	3	2967	3	A2M	12	9253745	Missense_Mutation	SNP	T	TCGA-KN-8427-01A-11D-2310-10		9253745	124598150	90	41381											
PRB2	653247	mdanderson.org	37	12	11546378	11546378	+	Missense_Mutation	SNP	G	G	A	rs200759746	byFrequency	TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr12:11546378G>A	ENST00000389362.4	-	3	669	c.634C>T	c.(634-636)Cct>Tct	p.P212S	PRB1_ENST00000546254.1_Intron|PRB2_ENST00000545829.1_5'Flank	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	212	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGACCTTGAGGTTTGTTGCCT	0.602													g|||	9	0.00179712	0.0	0.0014	5008	,	,		19017	0.004		0.001	False		,,,				2504	0.0031															0													68	88	82					12																	11546378		2052	4138	6190	SO:0001583	missense	653247			K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.634C>T	12.37:g.11546378G>A	ENSP00000374013:p.Pro212Ser		O00599|P02811|P04281	Missense_Mutation	SNP	ENST00000389362.4	37	CCDS41757.2	.	.	.	.	.	.	.	.	.	.	.	0.147	-1.095485	0.01858	.	.	ENSG00000121335	ENST00000389362	T	0.04015	3.73	1.23	-0.356	0.12583	.	0.674464	0.11286	U	0.579821	T	0.02929	0.0087	N	0.20530	0.585	0.09310	N	1	P	0.52061	0.95	P	0.45577	0.486	T	0.25606	-1.0127	10	0.07482	T	0.82	.	3.6218	0.08099	0.0:0.0:0.563:0.437	.	212	P02812	PRB2_HUMAN	S	212	ENSP00000374013:P212S	ENSP00000374013:P212S	P	-	1	0	PRB2	11437645	0.005000	0.15991	0.048000	0.18961	0.632000	0.37999	0.049000	0.14099	0.566000	0.29273	0.175000	0.17021	CCT		0.602	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		A	11546378	G	A	11546378	3	1	733	1	0	0	0	0	1	0	0	0	12448	1261	44	2	620	2	PRB2	12	11546378	Missense_Mutation	SNP	G	TCGA-KN-8427-01A-11D-2310-10	2292633	11546378	122305517	91	41382											
ALG10B	144245	broad.mit.edu	37	12	38714025	38714025	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr12:38714025delT	ENST00000308742.4	+	3	748	c.432delT	c.(430-432)tatfs	p.Y144fs	AC117372.1_ENST00000401168.2_RNA|ALG10B_ENST00000551464.1_Intron	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	144					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)|plasma membrane (GO:0005886)	transferase activity, transferring hexosyl groups (GO:0016758)			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				CAACACTTTATTTTTTTAACT	0.318																																																0													68	74	72					12																	38714025		2203	4295	6498	SO:0001589	frameshift_variant	144245			AY845858	CCDS31772.1	12q12	2013-03-04	2013-03-04		ENSG00000175548	ENSG00000175548	2.4.1.256		31088	protein-coding gene	gene with protein product	"potassium channel regulator 1", "dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"		"asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast)"				Standard	NM_001013620		Approved	KCR1	uc001rln.4	Q5I7T1	OTTHUMG00000169298	ENST00000308742.4:c.432delT	12.37:g.38714025delT	ENSP00000310120:p.Tyr144fs		B2RPF4	Frame_Shift_Del	DEL	ENST00000308742.4	37	CCDS31772.1																																																																																				0.318	ALG10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403349.1	NM_001013620		-	38714025	T	-	38714025	7	5	733	1	0	1	0	1	0	0	0	0	512	1500	52	0	442	0	ALG10B	12	38714025	Frame_Shift_Del	DEL	T	TCGA-KN-8427-01A-11D-2310-10	27167647	38714025	95137870	92	41383											
ESPL1	9700	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	53670499	53670499	+	Missense_Mutation	SNP	C	C	G			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr12:53670499C>G	ENST00000257934.4	+	8	1887	c.1796C>G	c.(1795-1797)aCt>aGt	p.T599S	ESPL1_ENST00000552462.1_Missense_Mutation_p.T599S	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	599					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CGGGCCGACACTGGACAGGAA	0.662																																					Colon(53;1069 1201 2587 5382)											0													45	45	45					12																	53670499		2203	4300	6503	SO:0001583	missense	9700			D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"separin", "separase", "separin, cysteine protease"	604143	"extra spindle poles like 1 (S. cerevisiae)"			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.1796C>G	12.37:g.53670499C>G	ENSP00000257934:p.Thr599Ser			Missense_Mutation	SNP	ENST00000257934.4	37	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.438324	0.62955	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.13538	2.58;2.58	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.35885	0.0947	M	0.62723	1.935	0.58432	D	0.999997	D	0.89917	1.0	D	0.83275	0.996	T	0.00593	-1.1654	10	0.36615	T	0.2	.	18.0804	0.89440	0.0:1.0:0.0:0.0	.	599	Q14674	ESPL1_HUMAN	S	599;274;599	ENSP00000257934:T599S;ENSP00000449831:T599S	ENSP00000257934:T599S	T	+	2	0	ESPL1	51956766	1.000000	0.71417	0.403000	0.26384	0.152000	0.21847	7.220000	0.78008	2.808000	0.96608	0.655000	0.94253	ACT		0.662	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		G	53670499	C	G	53670499	3	3	733	1	0	0	0	0	1	0	0	0	5255	565	20	4	1822	4	ESPL1	12	53670499	Missense_Mutation	SNP	C	TCGA-KN-8427-01A-11D-2310-10	14956474	53670499	80181396	93	41384											
LATS2	26524	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	13	21557476	21557476	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr13:21557476C>T	ENST00000382592.4	-	5	2774	c.2369G>A	c.(2368-2370)cGa>cAa	p.R790Q	LATS2_ENST00000542899.1_Missense_Mutation_p.R790Q	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)		CTTGATGTCTCGGTGGATGAA	0.502																																																0													107	95	99					13																	21557476		2203	4300	6503	SO:0001583	missense	26524			AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"LATS (large tumor suppressor, Drosophila) homolog 2", "LATS, large tumor suppressor, homolog 2 (Drosophila)"			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.2369G>A	13.37:g.21557476C>T	ENSP00000372035:p.Arg790Gln			Missense_Mutation	SNP	ENST00000382592.4	37	CCDS9294.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.753970	0.89843	.	.	ENSG00000150457	ENST00000382592;ENST00000542899	T;T	0.19250	2.16;2.16	5.05	4.2	0.49525	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	0.000005	T	0.61751	0.2372	H	0.97758	4.07	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	T	0.77661	-0.2504	10	0.87932	D	0	.	14.9578	0.71131	0.144:0.856:0.0:0.0	.	790	Q9NRM7	LATS2_HUMAN	Q	790	ENSP00000372035:R790Q;ENSP00000441817:R790Q	ENSP00000372035:R790Q	R	-	2	0	LATS2	20455476	1.000000	0.71417	0.951000	0.38953	0.998000	0.95712	7.568000	0.82369	1.338000	0.45544	0.555000	0.69702	CGA		0.502	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1			T	21557476	C	T	21557476	3	4	733	1	0	0	0	0	1	0	0	0	8649	884	31	1	913	1	LATS2	13	21557476	Missense_Mutation	SNP	C	TCGA-KN-8427-01A-11D-2310-10		21557476	93612402	94	41385											
KIF26A	26153	mdanderson.org	37	14	104642341	104642341	+	Silent	SNP	A	A	G	rs2487304	byFrequency	TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr14:104642341A>G	ENST00000423312.2	+	12	3216	c.3216A>G	c.(3214-3216)ccA>ccG	p.P1072P	KIF26A_ENST00000315264.7_Silent_p.P933P	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1072					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)		GGTCCCGGCCAGTCAGCATCA	0.697													G|||	3898	0.778355	0.8306	0.7205	5008	,	,		14332	0.7897		0.7097	False		,,,				2504	0.8078															0								G		3234,646		1359,516,65	7	9	8		3216	-8.6	0.3	14	dbSNP_100	8	5992,2234		2221,1550,342	no	coding-synonymous	KIF26A	NM_015656.1		3580,2066,407	GG,GA,AA		27.1578,16.6495,23.7899		1072/1883	104642341	9226,2880	1940	4113	6053	SO:0001819	synonymous_variant	26153			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.3216A>G	14.37:g.104642341A>G			Q8TAZ7|Q96GK3|Q9UFL3	Silent	SNP	ENST00000423312.2	37	CCDS45171.1																																																																																				0.697	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1			G	104642341	A	G	104642341	2	3	733	1	0	0	0	0	0	0	0	1	8296	175	7	3		3	KIF26A	14	104642341	Silent	SNP	A	TCGA-KN-8427-01A-11D-2310-10		104642341	2707199	95	41386											
AGBL1	123624	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	15	86808034	86808034	+	Silent	SNP	C	C	A			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr15:86808034C>A	ENST00000441037.2	+	10	1589	c.1494C>A	c.(1492-1494)acC>acA	p.T498T	AGBL1_ENST00000389298.3_Silent_p.T229T|AGBL1_ENST00000421325.2_Silent_p.T498T	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	498					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						CTCCCACCACCCAGCCTATGT	0.458																																																0													77	76	76					15																	86808034		1933	4133	6066	SO:0001819	synonymous_variant	123624			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.1494C>A	15.37:g.86808034C>A			A1A4X5|A6NJH6|C9JHL5	Silent	SNP	ENST00000441037.2	37	CCDS58398.1																																																																																				0.458	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		A	86808034	C	A	86808034	2	1	733	1	0	0	0	0	0	0	0	1	375	610	22	4		4	AGBL1	15	86808034	Silent	SNP	C	TCGA-KN-8427-01A-11D-2310-10		86808034	15723358	96	41387											
DNAH9	1770	hgsc.bcm.edu	37	17	11540080	11540080	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr17:11540080G>A	ENST00000262442.4	+	9	1833	c.1765G>A	c.(1765-1767)Gtc>Atc	p.V589I	DNAH9_ENST00000454412.2_Missense_Mutation_p.V589I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	589	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)		CAGTCAGCACGTCCAGGAGGA	0.438																																																0													142	136	138					17																	11540080		2203	4300	6503	SO:0001583	missense	1770			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.1765G>A	17.37:g.11540080G>A	ENSP00000262442:p.Val589Ile		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	8.137	0.784355	0.16189	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.55930	0.49;0.49	5.7	-2.02	0.07388	Dynein heavy chain, domain-1 (1);	0.744667	0.11942	N	0.514613	T	0.29882	0.0747	N	0.17723	0.515	0.40336	D	0.978987	B	0.11235	0.004	B	0.06405	0.002	T	0.09952	-1.0651	10	0.22109	T	0.4	.	6.3992	0.21628	0.4728:0.1275:0.3997:0.0	.	589	Q9NYC9	DYH9_HUMAN	I	589	ENSP00000262442:V589I;ENSP00000414874:V589I	ENSP00000262442:V589I	V	+	1	0	DNAH9	11480805	0.000000	0.05858	0.600000	0.28864	0.827000	0.46813	-0.478000	0.06575	-0.157000	0.11059	0.655000	0.94253	GTC		0.438	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		A	11540080	G	A	11540080	3	1	733	1	0	0	0	0	1	0	0	0	4610	1145	40	1	1799	1	DNAH9	17	11540080	Missense_Mutation	SNP	G	TCGA-KN-8427-01A-11D-2310-10		11540080	69655130	97	41388											
TMUB2	79089	ucsc.edu;mdanderson.org	37	17	42268154	42268154	+	Silent	SNP	C	C	T			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr17:42268154C>T	ENST00000587989.1	+	4	1041	c.888C>T	c.(886-888)ttC>ttT	p.F296F	TMUB2_ENST00000589184.1_3'UTR|TMUB2_ENST00000590235.1_3'UTR|TMUB2_ENST00000319511.6_Silent_p.F276F|TMUB2_ENST00000538716.2_Silent_p.F296F|TMUB2_ENST00000589785.1_Silent_p.F276F|TMUB2_ENST00000357984.3_Silent_p.F276F|TMUB2_ENST00000592825.1_3'UTR|TMUB2_ENST00000446571.3_Silent_p.F239F|TMUB2_ENST00000587172.1_3'UTR			Q71RG4	TMUB2_HUMAN	transmembrane and ubiquitin-like domain containing 2	296						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)		GCCAATTCTTCACAGCACCTG	0.507																																																0													126	111	116					17																	42268154		2203	4300	6503	SO:0001819	synonymous_variant	79089				CCDS11479.1, CCDS54134.1	17q21	2006-06-27				ENSG00000168591			28459	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_177441		Approved	MGC3123	uc002ifo.3	Q71RG4		ENST00000587989.1:c.888C>T	17.37:g.42268154C>T			B3KU81|Q8NDI2|Q9BPZ5|Q9HAG3	Silent	SNP	ENST00000587989.1	37	CCDS54134.1																																																																																				0.507	TMUB2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457711.1	NM_177441		T	42268154	C	T	42268154	2	4	733	1	0	0	0	0	0	0	0	1	16270	825	29	2		2	TMUB2	17	42268154	Silent	SNP	C	TCGA-KN-8427-01A-11D-2310-10	30728074	42268154	38927056	98	41389											
SP2	6668	broad.mit.edu;mdanderson.org	37	17	46000417	46000417	+	Silent	SNP	C	C	G			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr17:46000417C>G	ENST00000376741.4	+	4	1286	c.1149C>G	c.(1147-1149)acC>acG	p.T383T	AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000451140.2_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	383					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						CTAACACCACCTGTAGCAGCC	0.607																																																0													83	78	80					17																	46000417		2203	4300	6503	SO:0001819	synonymous_variant	6668				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.1149C>G	17.37:g.46000417C>G			A6NK74	Silent	SNP	ENST00000376741.4	37	CCDS11521.2																																																																																				0.607	SP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316777.1	NM_003110		G	46000417	C	G	46000417	2	3	733	1	0	0	0	0	0	0	0	1	14970	668	24	4		4	SP2	17	46000417	Silent	SNP	C	TCGA-KN-8427-01A-11D-2310-10	3732263	46000417	35194793	99	41390											
ITGA3	3675	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	17	48154412	48154412	+	Missense_Mutation	SNP	C	C	G			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr17:48154412C>G	ENST00000320031.8	+	15	2327	c.1997C>G	c.(1996-1998)tCc>tGc	p.S666C	ITGA3_ENST00000007722.7_Missense_Mutation_p.S666C	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)	666					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						TCGGAGCGCTCCGGGGAGGAC	0.687																																																0													18	18	18					17																	48154412		2202	4298	6500	SO:0001583	missense	3675			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.1997C>G	17.37:g.48154412C>G	ENSP00000315190:p.Ser666Cys		A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Missense_Mutation	SNP	ENST00000320031.8	37	CCDS11558.1	.	.	.	.	.	.	.	.	.	.	C	7.673	0.687351	0.14973	.	.	ENSG00000005884	ENST00000007722;ENST00000538917;ENST00000320031	T;T	0.48522	0.81;0.81	5.44	3.49	0.39957	Integrin alpha-2 (1);	0.576176	0.18753	N	0.132140	T	0.22244	0.0536	N	0.08118	0	0.09310	N	0.999999	B;B	0.29531	0.086;0.247	B;B	0.24394	0.015;0.053	T	0.12708	-1.0537	9	.	.	.	.	6.737	0.23415	0.1437:0.7021:0.0:0.1542	.	666;666	P26006-1;P26006	.;ITA3_HUMAN	C	666;652;666	ENSP00000007722:S666C;ENSP00000315190:S666C	.	S	+	2	0	ITGA3	45509411	0.034000	0.19679	0.146000	0.22360	0.008000	0.06430	2.241000	0.43097	0.877000	0.35895	-0.137000	0.14449	TCC		0.687	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000366298.1	NM_005501		G	48154412	C	G	48154412	3	3	733	1	0	0	0	0	1	0	0	0	7879	855	30	4	2055	4	ITGA3	17	48154412	Missense_Mutation	SNP	C	TCGA-KN-8427-01A-11D-2310-10	2153995	48154412	33040798	100	41391											
COL1A1	1277	broad.mit.edu;bcgsc.ca	37	17	48267232	48267232	+	Missense_Mutation	SNP	G	G	C			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr17:48267232G>C	ENST00000225964.5	-	37	2719	c.2601C>G	c.(2599-2601)agC>agG	p.S867R		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	867	Triple-helical region.				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)	GGGGACCAGCGCTGCCGCGAG	0.652			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta																																Dom	yes		17	17q21.31-q22	1277	"collagen, type I, alpha 1"	yes	M	0													31	30	30					17																	48267232		2202	4299	6501	SO:0001583	missense	1277			Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"Collagens"	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.2601C>G	17.37:g.48267232G>C	ENSP00000225964:p.Ser867Arg		O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Missense_Mutation	SNP	ENST00000225964.5	37	CCDS11561.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.513412	0.44660	.	.	ENSG00000108821	ENST00000225964	D	0.93307	-3.2	5.41	-6.02	0.02192	.	0.616511	0.16164	N	0.226603	D	0.87253	0.6131	L	0.28458	0.855	0.23943	N	0.996394	B	0.27286	0.174	B	0.31751	0.135	T	0.69548	-0.5116	10	0.27785	T	0.31	.	16.3739	0.83378	0.8239:0.0:0.1761:0.0	.	867	P02452	CO1A1_HUMAN	R	867	ENSP00000225964:S867R	ENSP00000225964:S867R	S	-	3	2	COL1A1	45622231	0.000000	0.05858	0.430000	0.26722	0.774000	0.43823	-0.597000	0.05713	-1.245000	0.02513	0.313000	0.20887	AGC		0.652	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2			C	48267232	G	C	48267232	3	2	733	1	0	0	0	0	1	0	0	0	3679	1078	38	4	1853	4	COL1A1	17	48267232	Missense_Mutation	SNP	G	TCGA-KN-8427-01A-11D-2310-10	112820	48267232	32927978	101	41392											
ABCA6	23460	mdanderson.org	37	17	67092895	67092895	+	Silent	SNP	A	A	C			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr17:67092895A>C	ENST00000284425.2	-	24	3342	c.3168T>G	c.(3166-3168)gcT>gcG	p.A1056A	ABCA6_ENST00000446604.2_5'UTR|MIR4524B_ENST00000581569.1_RNA	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1056					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)					CACACCAGTAAGCAGAAGTGT	0.333																																																0													34	38	36					17																	67092895		2203	4298	6501	SO:0001819	synonymous_variant	23460			U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"ATP binding cassette transporters / subfamily A"	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.3168T>G	17.37:g.67092895A>C			Q6NSH9|Q8N856|Q8WWZ6	Silent	SNP	ENST00000284425.2	37	CCDS11683.1																																																																																				0.333	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		C	67092895	A	C	67092895	2	2	733	1	0	0	0	0	0	0	0	1	36	59	3	5		5	ABCA6	17	67092895	Silent	SNP	A	TCGA-KN-8427-01A-11D-2310-10	18825663	67092895	14102315	102	41393											
KIF19	124602	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	17	72348987	72348987	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr17:72348987G>A	ENST00000389916.4	+	15	2146	c.2008G>A	c.(2008-2010)Gca>Aca	p.A670T	AC103809.2_ENST00000599136.1_5'Flank	NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	670					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						AATTACCCCAGCAGGAACCTC	0.567																																																0													124	132	129					17																	72348987		1976	4173	6149	SO:0001583	missense	124602			AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"Kinesins"	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.2008G>A	17.37:g.72348987G>A	ENSP00000374566:p.Ala670Thr		A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Missense_Mutation	SNP	ENST00000389916.4	37	CCDS32718.2	.	.	.	.	.	.	.	.	.	.	G	12.75	2.031178	0.35797	.	.	ENSG00000196169	ENST00000389916	T	0.70986	-0.53	5.22	3.19	0.36642	.	.	.	.	.	T	0.56688	0.2002	L	0.47716	1.5	0.28564	N	0.91098	P	0.39391	0.671	B	0.32864	0.154	T	0.44112	-0.9349	9	0.13853	T	0.58	.	10.0998	0.42497	0.077:0.1383:0.7847:0.0	.	670	Q2TAC6	KIF19_HUMAN	T	670	ENSP00000374566:A670T	ENSP00000374566:A670T	A	+	1	0	KIF19	69860582	0.018000	0.18449	0.154000	0.22540	0.734000	0.41952	1.180000	0.32005	0.695000	0.31675	0.456000	0.33151	GCA		0.567	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209		A	72348987	G	A	72348987	3	1	733	1	0	0	0	0	1	0	0	0	8284	971	34	2	2066	2	KIF19	17	72348987	Missense_Mutation	SNP	G	TCGA-KN-8427-01A-11D-2310-10	5256092	72348987	8846223	103	41394											
BAIAP2	10458	broad.mit.edu	37	17	79080558	79080558	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr17:79080558A>G	ENST00000321300.6	+	12	1444	c.1351A>G	c.(1351-1353)Aag>Gag	p.K451E	BAIAP2_ENST00000392411.3_Missense_Mutation_p.K373E|BAIAP2_ENST00000321280.7_Missense_Mutation_p.K451E|BAIAP2_ENST00000575712.1_Missense_Mutation_p.K451E|BAIAP2_ENST00000435091.3_Missense_Mutation_p.K451E|BAIAP2_ENST00000416299.2_Missense_Mutation_p.K314E|BAIAP2_ENST00000575245.1_Missense_Mutation_p.K484E|BAIAP2_ENST00000428708.2_Missense_Mutation_p.K451E	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	451					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)			GCAGCAAGGGAAGAGCAGCAG	0.706																																																0													59	59	59					17																	79080558		2202	4298	6500	SO:0001583	missense	10458			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.1351A>G	17.37:g.79080558A>G	ENSP00000316338:p.Lys451Glu		O43858|Q53HB1|Q86WC1|Q8N5C0|Q96CR7|Q9UBR3|Q9UQ43	Missense_Mutation	SNP	ENST00000321300.6	37	CCDS11775.1	.	.	.	.	.	.	.	.	.	.	A	15.13	2.741905	0.49151	.	.	ENSG00000175866	ENST00000321300;ENST00000428708;ENST00000435091;ENST00000321280;ENST00000392411;ENST00000416299	T;T;T;T;T;T	0.33438	1.85;1.86;1.41;1.41;1.86;1.42	4.69	4.69	0.59074	.	0.167559	0.51477	D	0.000086	T	0.21962	0.0529	L	0.39898	1.24	0.50467	D	0.99987	B;P;P;B;B;B;B;B;B	0.44627	0.411;0.515;0.839;0.06;0.029;0.227;0.099;0.068;0.029	B;B;B;B;B;B;B;B;B	0.35312	0.11;0.093;0.2;0.07;0.064;0.093;0.147;0.093;0.093	T	0.03829	-1.1000	10	0.22706	T	0.39	-23.9754	13.1745	0.59617	1.0:0.0:0.0:0.0	.	314;373;452;451;451;451;451;452;451	B4DWA1;F8W878;B3KPV9;Q9UQB8;Q9UQB8-2;Q9UQB8-3;Q9UQB8-5;Q9UQB8-6;Q9UQB8-4	.;.;.;BAIP2_HUMAN;.;.;.;.;.	E	451;451;451;451;373;314	ENSP00000316338:K451E;ENSP00000401022:K451E;ENSP00000413069:K451E;ENSP00000315685:K451E;ENSP00000376211:K373E;ENSP00000391837:K314E	ENSP00000315685:K451E	K	+	1	0	BAIAP2	76695153	1.000000	0.71417	0.998000	0.56505	0.414000	0.31173	8.497000	0.90488	1.769000	0.52152	0.248000	0.18094	AAG		0.706	BAIAP2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438553.1			G	79080558	A	G	79080558	3	3	733	1	0	0	0	0	1	0	0	0	1301	247	9	3	1397	3	BAIAP2	17	79080558	Missense_Mutation	SNP	A	TCGA-KN-8427-01A-11D-2310-10	6731571	79080558	2114652	104	41395											
FSCN2	25794	mdanderson.org	37	17	79495969	79495969	+	Missense_Mutation	SNP	C	C	T	rs143796236	byFrequency	TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr17:79495969C>T	ENST00000417245.2	+	1	548	c.412C>T	c.(412-414)Cac>Tac	p.H138Y	RP13-766D20.2_ENST00000442532.1_RNA|RP13-766D20.2_ENST00000430912.1_RNA|FSCN2_ENST00000334850.7_Missense_Mutation_p.H138Y	NM_001077182.2|NM_012418.3	NP_001070650.1|NP_036550.1	O14926	FSCN2_HUMAN	fascin actin-bundling protein 2, retinal	138					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|anatomical structure morphogenesis (GO:0009653)|eye photoreceptor cell development (GO:0042462)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|stereocilium (GO:0032420)	actin binding (GO:0003779)|actin filament binding (GO:0051015)			endometrium(1)|lung(1)|prostate(1)|urinary_tract(1)	4	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			CCTGGCCATCCACCCGCAGGC	0.716													C|||	8	0.00159744	0.0	0.0	5008	,	,		16925	0.0		0.007	False		,,,				2504	0.001															0								C	TYR/HIS,TYR/HIS	1,4181		0,1,2090	8	10	9		412,412	4.8	1	17	dbSNP_134	9	71,8275		0,71,4102	yes	missense,missense	FSCN2	NM_001077182.2,NM_012418.3	83,83	0,72,6192	TT,TC,CC		0.8507,0.0239,0.5747	probably-damaging,probably-damaging	138/517,138/493	79495969	72,12456	2091	4173	6264	SO:0001583	missense	25794			AF030165	CCDS45810.1, CCDS45811.1	17q25	2014-02-03	2014-02-03		ENSG00000186765	ENSG00000186765		"Fascins"	3960	protein-coding gene	gene with protein product		607643	"fascin (Strongylocentrotus purpuratus) homolog 2 (actin-bundling protein, retinal)", "fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)"			10234509	Standard	NM_012418		Approved	RP30, RFSN	uc010wuo.2	O14926	OTTHUMG00000167477	ENST00000417245.2:c.412C>T	17.37:g.79495969C>T	ENSP00000388716:p.His138Tyr		A0AVC4|A8MRA6	Missense_Mutation	SNP	ENST00000417245.2	37	CCDS45811.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	C	26.6	4.751103	0.89753	2.39E-4	0.008507	ENSG00000186765	ENST00000417245;ENST00000334850	T;T	0.24151	1.87;1.87	4.78	4.78	0.61160	Actin cross-linking (1);	0.000000	0.85682	D	0.000000	T	0.48040	0.1478	M	0.85945	2.785	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.75484	0.978;0.986	T	0.62704	-0.6798	10	0.87932	D	0	-21.2088	16.5597	0.84537	0.0:1.0:0.0:0.0	.	138;138	O14926;A8MRA6	FSCN2_HUMAN;.	Y	138	ENSP00000388716:H138Y;ENSP00000334665:H138Y	ENSP00000334665:H138Y	H	+	1	0	FSCN2	77110564	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.216000	0.77974	2.169000	0.68431	0.411000	0.27672	CAC		0.716	FSCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394746.1	NM_012418		T	79495969	C	T	79495969	3	4	733	1	0	0	0	0	1	0	0	0	6070	594	21	2	414	2	FSCN2	17	79495969	Missense_Mutation	SNP	C	TCGA-KN-8427-01A-11D-2310-10	415411	79495969	1699241	105	41396											
DSG2	1829	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	18	29122688	29122688	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr18:29122688C>T	ENST00000261590.8	+	14	2416	c.2207C>T	c.(2206-2208)aCa>aTa	p.T736I	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	736					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)			ACAGGGGCCACAGGCGCTATC	0.552																																																0													102	108	106					18																	29122688		2011	4187	6198	SO:0001583	missense	1829			Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"Cadherins / Major cadherins"	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.2207C>T	18.37:g.29122688C>T	ENSP00000261590:p.Thr736Ile		Q4KKU6	Missense_Mutation	SNP	ENST00000261590.8	37	CCDS42423.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.258185	0.39896	.	.	ENSG00000046604	ENST00000261590	T	0.59772	0.24	5.97	5.1	0.69264	.	0.803958	0.11227	N	0.586116	T	0.42675	0.1213	N	0.14661	0.345	0.42832	D	0.994021	B	0.14805	0.011	B	0.09377	0.004	T	0.18053	-1.0349	10	0.38643	T	0.18	.	12.7234	0.57154	0.0:0.9209:0.0:0.0791	.	736	Q14126	DSG2_HUMAN	I	736	ENSP00000261590:T736I	ENSP00000261590:T736I	T	+	2	0	DSG2	27376686	0.002000	0.14202	0.047000	0.18901	0.003000	0.03518	0.773000	0.26661	1.522000	0.49001	0.655000	0.94253	ACA		0.552	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	NM_001943		T	29122688	C	T	29122688	3	4	733	1	0	0	0	0	1	0	0	0	4779	478	17	2	2261	2	DSG2	18	29122688	Missense_Mutation	SNP	C	TCGA-KN-8427-01A-11D-2310-10		29122688	48954560	106	41397											
HCN2	610	mdanderson.org	37	19	613898	613898	+	Silent	SNP	T	T	C	rs1054786	byFrequency	TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr19:613898T>C	ENST00000251287.2	+	7	1925	c.1872T>C	c.(1870-1872)gcT>gcC	p.A624A	AC005559.2_ENST00000591847.1_RNA	NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	624					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)		GCGTGCGGGCTGACACCTACT	0.706													c|||	4115	0.821685	0.9796	0.7349	5008	,	,		4851	0.8958		0.5865	False		,,,				2504	0.8354				Melanoma(145;1175 2427 8056 36306)											0								C		4024,366		1851,322,22	28	29	28		1872	-7.7	0.6	19	dbSNP_86	28	4945,3649		1422,2101,774	no	coding-synonymous	HCN2	NM_001194.3		3273,2423,796	CC,CT,TT		42.4599,8.3371,30.9227		624/890	613898	8969,4015	2195	4297	6492	SO:0001819	synonymous_variant	610			AF064877	CCDS12035.1	19p13	2011-07-05				ENSG00000099822		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4846	protein-coding gene	gene with protein product		602781		BCNG2		9405696, 9630217, 16382102	Standard	NM_001194		Approved	BCNG-2, HAC-1	uc002lpe.3	Q9UL51		ENST00000251287.2:c.1872T>C	19.37:g.613898T>C			O60742|O60743|O75267|Q9UBS2	Silent	SNP	ENST00000251287.2	37	CCDS12035.1																																																																																				0.706	HCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452100.1	NM_001194		C	613898	T	C	613898	2	2	733	1	0	0	0	0	0	0	0	1	6999	1567	55	3		3	HCN2	19	613898	Silent	SNP	T	TCGA-KN-8427-01A-11D-2310-10		613898	58515085	107	41398											
MUC16	94025	mdanderson.org	37	19	8999441	8999441	+	Silent	SNP	G	G	A	rs80293661		TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr19:8999441G>A	ENST00000397910.4	-	56	40937	c.40734C>T	c.(40732-40734)atC>atT	p.I13578I	MUC16_ENST00000380951.5_Silent_p.I219I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13580	SEA 10. {ECO:0000255|PROSITE- ProRule:PRU00188}.			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						CCAGCTCAGTGATGCTGTGGG	0.572																																																0													233	195	208					19																	8999441		2056	4205	6261	SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.40734C>T	19.37:g.8999441G>A			Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	0.024	-1.394273	0.01175	.	.	ENSG00000181143	ENST00000542240	.	.	.	2.95	1.9	0.25705	.	.	.	.	.	T	0.37544	0.1007	.	.	.	.	.	.	.	.	.	.	.	.	T	0.42531	-0.9446	3	.	.	.	.	5.174	0.15126	0.1723:0.0:0.8277:0.0	.	.	.	.	L	418	.	.	S	-	2	0	MUC16	8860441	0.993000	0.37304	0.014000	0.15608	0.016000	0.09150	1.607000	0.36836	0.786000	0.33708	0.555000	0.69702	TCA		0.572	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	8999441	G	A	8999441	2	1	733	1	0	0	0	0	0	0	0	1	9975	1280	45	2		2	MUC16	19	8999441	Silent	SNP	G	TCGA-KN-8427-01A-11D-2310-10	8385543	8999441	50129542	108	41399											
ATG4D	84971	bcgsc.ca	37	19	10654987	10654987	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr19:10654987A>G	ENST00000309469.4	+	1	394	c.221A>G	c.(220-222)aAc>aGc	p.N74S	ATG4D_ENST00000540862.1_5'Flank	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	74	Cryptic mitochondrial signal peptide.				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)			ACAGCCTGGAACAACGTCAAG	0.652																																																0													9	7	8					19																	10654987		2016	3899	5915	SO:0001583	missense	84971			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.221A>G	19.37:g.10654987A>G	ENSP00000311318:p.Asn74Ser		Q969K0	Missense_Mutation	SNP	ENST00000309469.4	37	CCDS12241.1	.	.	.	.	.	.	.	.	.	.	a	17.69	3.452721	0.63290	.	.	ENSG00000130734	ENST00000309469	T	0.41758	0.99	3.9	3.9	0.45041	.	0.000000	0.85682	U	0.000000	T	0.55955	0.1953	M	0.78049	2.395	0.80722	D	1	D;D	0.63880	0.993;0.967	P;P	0.56163	0.793;0.792	T	0.57923	-0.7727	10	0.36615	T	0.2	-16.6651	11.7064	0.51599	1.0:0.0:0.0:0.0	.	74;74	B7ZAY9;Q86TL0	.;ATG4D_HUMAN	S	74	ENSP00000311318:N74S	ENSP00000311318:N74S	N	+	2	0	ATG4D	10515987	1.000000	0.71417	1.000000	0.80357	0.073000	0.16967	8.697000	0.91307	1.406000	0.46857	0.387000	0.25754	AAC		0.652	ATG4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452022.1	NM_032885		G	10654987	A	G	10654987	3	3	733	1	0	0	0	0	1	0	0	0	1099	43	2	3	223	3	ATG4D	19	10654987	Missense_Mutation	SNP	A	TCGA-KN-8427-01A-11D-2310-10	1655546	10654987	48473996	109	41400											
ZNF563	147837	broad.mit.edu	37	19	12433413	12433423	+	Frame_Shift_Del	DEL	TTCCTGATGGT	TTCCTGATGGT	-			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	TTCCTGATGGT	TTCCTGATGGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr19:12433413_12433423delTTCCTGATGGT	ENST00000293725.5	-	2	311_321	c.106_116delACCATCAGGAA	c.(106-117)accatcaggaacfs	p.TIRN36fs	ZNF563_ENST00000595977.1_Frame_Shift_Del_p.TIRN36fs	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	36	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)	p.R38R(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						ACAGTCCAGGTTCCTGATGGTTTCTTGCATC	0.417																																					GBM(39;623 795 5132 29510 31476)											1	Substitution - coding silent(1)	endometrium(1)																																								SO:0001589	frameshift_variant	147837			BC022523	CCDS12270.1	19p13.2	2013-09-20			ENSG00000188868	ENSG00000188868		"Zinc fingers, C2H2-type", "-"	30498	protein-coding gene	gene with protein product							Standard	NM_145276		Approved	FLJ34797	uc002mtp.3	Q8TA94	OTTHUMG00000156413	ENST00000293725.5:c.106_116delACCATCAGGAA	19.37:g.12433413_12433423delTTCCTGATGGT	ENSP00000293725:p.Thr36fs		B2R9E7|Q8NAT7	Frame_Shift_Del	DEL	ENST00000293725.5	37	CCDS12270.1																																																																																				0.417	ZNF563-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344114.1	NM_145276		-	12433423	TTCCTGATGGT	-	12433413	7	5	733	1	0	1	0	1	0	0	0	0	17999	1725	60	0	1326	0	ZNF563	19	12433413	Frame_Shift_Del	DEL	TTCCTGATGGT	TCGA-KN-8427-01A-11D-2310-10	1778426	12433413	46695570	110	41401	385	2									
ZNF563	147837	bcgsc.ca	37	19	12433414	12433424	+	Frame_Shift_Del	DEL	TTCCTGATGGT	TTCCTGATGGT	-			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	TTCCTGATGGT	TTCCTGATGGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr19:12433414_12433424delTTCCTGATGGT	ENST00000293725.5	-	2	310_320	c.105_115delACCATCAGGAA	c.(103-117)gaaccatcaggaaacfs	p.PSGN36fs	ZNF563_ENST00000595977.1_Frame_Shift_Del_p.PSGN36fs	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	36	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)	p.R38R(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CAGTCCAGGTTCCTGATGGTTTCTTGCATCA	0.417																																					GBM(39;623 795 5132 29510 31476)											1	Substitution - coding silent(1)	endometrium(1)																																								SO:0001589	frameshift_variant	147837			BC022523	CCDS12270.1	19p13.2	2013-09-20			ENSG00000188868	ENSG00000188868		"Zinc fingers, C2H2-type", "-"	30498	protein-coding gene	gene with protein product							Standard	NM_145276		Approved	FLJ34797	uc002mtp.3	Q8TA94	OTTHUMG00000156413	ENST00000293725.5:c.105_115delACCATCAGGAA	19.37:g.12433414_12433424delTTCCTGATGGT	ENSP00000293725:p.Pro36fs		B2R9E7|Q8NAT7	Frame_Shift_Del	DEL	ENST00000293725.5	37	CCDS12270.1																																																																																				0.417	ZNF563-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344114.1	NM_145276		-	12433424	TTCCTGATGGT	-	12433414	7	5	733	1	0	1	0	1	0	0	0	0	17999	1783	62	0	1327	0	ZNF563	19	12433414	Frame_Shift_Del	DEL	TTCCTGATGGT	TCGA-KN-8427-01A-11D-2310-10	1	12433414	46695569	111	41402	385	2									
ZNF799	90576	mdanderson.org	37	19	12502998	12502998	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr19:12502998C>T	ENST00000430385.3	-	4	414	c.214G>A	c.(214-216)Gtt>Att	p.V72I	ZNF799_ENST00000595766.1_3'UTR|CTD-3105H18.16_ENST00000595562.1_Missense_Mutation_p.V72I|ZNF799_ENST00000419318.1_Missense_Mutation_p.V40I|CTD-3105H18.14_ENST00000435033.1_Intron	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	72	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TTACTTTCAACAAATCTCTCT	0.333																																																0													63	58	60					19																	12502998		2202	4280	6482	SO:0001583	missense	90576			BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"Zinc fingers, C2H2-type", "-"	28071	protein-coding gene	gene with protein product			"zinc finger protein 842"	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.214G>A	19.37:g.12502998C>T	ENSP00000411084:p.Val72Ile			Missense_Mutation	SNP	ENST00000430385.3	37	CCDS45989.1	.	.	.	.	.	.	.	.	.	.	C	1.357	-0.589722	0.03799	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	T;T	0.07800	3.16;3.27	0.92	-1.84	0.07809	Krueppel-associated box (1);	.	.	.	.	T	0.03871	0.0109	N	0.12746	0.255	0.09310	N	1	B	0.17667	0.023	B	0.15052	0.012	T	0.40001	-0.9586	9	0.42905	T	0.14	.	2.6031	0.04871	0.5009:0.2585:0.0:0.2406	.	72	Q96GE5	ZN799_HUMAN	I	40;72	ENSP00000415278:V40I;ENSP00000411084:V72I	ENSP00000415278:V40I	V	-	1	0	ZNF799	12363998	0.000000	0.05858	0.000000	0.03702	0.061000	0.15899	0.148000	0.16224	-1.109000	0.02996	-0.719000	0.03609	GTT		0.333	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821		T	12502998	C	T	12502998	3	4	733	1	0	0	0	0	1	0	0	0	18171	478	17	2	1721	2	ZNF799	19	12502998	Missense_Mutation	SNP	C	TCGA-KN-8427-01A-11D-2310-10	69584	12502998	46625985	112	41403											
PRDX2	7001	broad.mit.edu;ucsc.edu;mdanderson.org	37	19	12911998	12911998	+	Silent	SNP	T	T	C			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr19:12911998T>C	ENST00000301522.2	-	2	206	c.78A>G	c.(76-78)aaA>aaG	p.K26K	CTD-2659N19.10_ENST00000585496.1_RNA|PRDX2_ENST00000435703.1_Silent_p.K26K|PRDX2_ENST00000334482.5_Silent_p.K26K	NM_005809.4	NP_005800.3	P32119	PRDX2_HUMAN	peroxiredoxin 2	26	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cellular response to oxidative stress (GO:0034599)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neuron apoptotic process (GO:0043524)|regulation of apoptotic process (GO:0042981)|removal of superoxide radicals (GO:0019430)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	antioxidant activity (GO:0016209)|thioredoxin peroxidase activity (GO:0008379)			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						GCTTCACCTCTTTGAAGGCGC	0.637																																																0													34	34	34					19																	12911998		2203	4300	6503	SO:0001819	synonymous_variant	7001				CCDS12281.1	19p13.2	2008-07-17			ENSG00000167815	ENSG00000167815			9353	protein-coding gene	gene with protein product	"thioredoxin-dependent peroxide reductase 1", "thiol-specific antioxidant 1", "natural killer-enhancing factor B", "thioredoxin peroxidase 1", "torin"	600538		TDPX1		7607688	Standard	NM_005809		Approved	PRP, NKEFB, TSA, PRXII, PRX2, MGC4104	uc002mvd.4	P32119	OTTHUMG00000134285	ENST00000301522.2:c.78A>G	19.37:g.12911998T>C			A8K0C0|P31945|P32118|P35701|Q6FHG4|Q92763|Q9UC23	Silent	SNP	ENST00000301522.2	37	CCDS12281.1																																																																																				0.637	PRDX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258950.2	NM_005809		C	12911998	T	C	12911998	2	2	733	1	0	0	0	0	0	0	0	1	12470	1606	56	3		3	PRDX2	19	12911998	Silent	SNP	T	TCGA-KN-8427-01A-11D-2310-10	409000	12911998	46216985	113	41404											
CYP4F11	57834	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	16025181	16025181	+	Missense_Mutation	SNP	C	C	T	rs200410691		TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr19:16025181C>T	ENST00000402119.4	-	11	1757	c.1331G>A	c.(1330-1332)cGt>cAt	p.R444H	CYP4F11_ENST00000326742.8_Silent_p.P422P|CYP4F11_ENST00000591841.1_Missense_Mutation_p.R119H|CYP4F11_ENST00000248041.8_Missense_Mutation_p.R444H	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						TTGGTCGAAACGGAAGGGGTC	0.587																																																0								C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	135	135	135		1331,1331	2.9	0.8	19		135	0,8600		0,0,4300	no	missense,missense	CYP4F11	NM_001128932.1,NM_021187.3	29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	444/525,444/525	16025181	1,13005	2203	4300	6503	SO:0001583	missense	57834			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.1331G>A	19.37:g.16025181C>T	ENSP00000384588:p.Arg444His			Missense_Mutation	SNP	ENST00000402119.4	37	CCDS12337.1	.	.	.	.	.	.	.	.	.	.	c	14.69	2.611014	0.46631	2.27E-4	0.0	ENSG00000171903	ENST00000402119;ENST00000248041	D;D	0.94000	-3.33;-3.33	2.93	2.93	0.34026	.	0.000000	0.64402	U	0.000003	D	0.96731	0.8933	M	0.90483	3.12	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.96926	0.9677	10	0.87932	D	0	.	11.6202	0.51113	0.0:1.0:0.0:0.0	.	444	Q9HBI6	CP4FB_HUMAN	H	444	ENSP00000384588:R444H;ENSP00000248041:R444H	ENSP00000248041:R444H	R	-	2	0	CYP4F11	15886181	1.000000	0.71417	0.763000	0.31416	0.009000	0.06853	6.462000	0.73526	1.621000	0.50320	0.462000	0.41574	CGT		0.587	CYP4F11-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460385.2	NM_021187		T	16025181	C	T	16025181	3	4	733	1	0	0	0	0	1	0	0	0	4188	536	19	1	251	1	CYP4F11	19	16025181	Missense_Mutation	SNP	C	TCGA-KN-8427-01A-11D-2310-10	3113183	16025181	43103802	114	41405											
UNC13A	23025	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	19	17756839	17756839	+	Missense_Mutation	SNP	T	T	G	rs543896701		TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr19:17756839T>G	ENST00000519716.2	-	18	2125	c.2126A>C	c.(2125-2127)aAg>aCg	p.K709T	UNC13A_ENST00000550896.1_Missense_Mutation_p.K707T|UNC13A_ENST00000252773.7_Missense_Mutation_p.K709T|UNC13A_ENST00000552293.1_Missense_Mutation_p.K709T|UNC13A_ENST00000428389.2_Missense_Mutation_p.K797T|UNC13A_ENST00000551649.1_Missense_Mutation_p.K709T	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	709	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						TGTCCGTTTCTTGGTCTTCCC	0.577																																																0													85	81	83					19																	17756839		1970	4183	6153	SO:0001583	missense	23025			AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.2126A>C	19.37:g.17756839T>G	ENSP00000429562:p.Lys709Thr		E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	T	19.74	3.883115	0.72410	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58;-0.58;-0.58	3.85	3.85	0.44370	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	T	0.72558	0.3475	N	0.25031	0.7	0.53688	D	0.999976	D	0.76494	0.999	D	0.83275	0.996	T	0.75528	-0.3286	10	0.87932	D	0	-25.0588	10.8835	0.46953	0.0:0.0:0.0:1.0	.	709	Q9UPW8	UN13A_HUMAN	T	709;797;709;709;709;707	ENSP00000429562:K709T;ENSP00000400409:K797T;ENSP00000252773:K709T;ENSP00000447236:K709T;ENSP00000447572:K709T;ENSP00000446831:K707T	ENSP00000252773:K709T	K	-	2	0	UNC13A	17617839	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.846000	0.86887	1.526000	0.49068	0.260000	0.18958	AAG		0.577	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		G	17756839	T	G	17756839	3	3	733	1	0	0	0	0	1	0	0	0	16989	1609	56	5	3089	5	UNC13A	19	17756839	Missense_Mutation	SNP	T	TCGA-KN-8427-01A-11D-2310-10	1731658	17756839	41372144	115	41406											
ANKRD27	84079	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	19	33113433	33113433	+	Silent	SNP	G	G	T			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr19:33113433G>T	ENST00000306065.4	-	18	1880	c.1722C>A	c.(1720-1722)cgC>cgA	p.R574R		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	574					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					GGTAGCCCCAGCGGGCAGCAA	0.532																																																0													175	162	167					19																	33113433		2203	4300	6503	SO:0001819	synonymous_variant	84079			AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"Ankyrin repeat domain containing"	25310	protein-coding gene	gene with protein product	"Vps9 domain and ankyrin-repeat-containing protein"					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.1722C>A	19.37:g.33113433G>T			Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Silent	SNP	ENST00000306065.4	37	CCDS32986.1																																																																																				0.532	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1	NM_032139		T	33113433	G	T	33113433	2	4	733	1	0	0	0	0	0	0	0	1	655	958	34	4		4	ANKRD27	19	33113433	Silent	SNP	G	TCGA-KN-8427-01A-11D-2310-10	15356594	33113433	26015550	116	41407											
CADM4	199731	ucsc.edu	37	19	44130965	44130965	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr19:44130965C>T	ENST00000222374.2	-	4	518	c.470G>A	c.(469-471)cGc>cAc	p.R157H	CADM4_ENST00000593506.1_5'Flank	NM_145296.1	NP_660339.1	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4	157	Ig-like C2-type 1.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				CCGGTACCAGCGCAGGGTGGC	0.647																																																0													58	67	63					19																	44130965		2202	4298	6500	SO:0001583	missense	199731			AF363368	CCDS12627.1	19q13.32	2013-01-29	2007-02-07	2007-02-07		ENSG00000105767		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	30825	protein-coding gene	gene with protein product	"nectin-like 4"	609744	"immunoglobulin superfamily, member 4C"	IGSF4C		11536053	Standard	NM_145296		Approved	TSLL2, Necl-4, SynCAM4	uc002oxc.1	Q8NFZ8		ENST00000222374.2:c.470G>A	19.37:g.44130965C>T	ENSP00000222374:p.Arg157His		B2R7L5|Q9Y4A4	Missense_Mutation	SNP	ENST00000222374.2	37	CCDS12627.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.820780	0.71028	.	.	ENSG00000105767	ENST00000222374	T	0.76186	-1.0	5.48	5.48	0.80851	Immunoglobulin subtype (1);CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.84880	0.5570	M	0.67625	2.065	0.52501	D	0.999958	D	0.89917	1.0	D	0.85130	0.997	D	0.84620	0.0683	10	0.46703	T	0.11	.	16.8373	0.85960	0.0:1.0:0.0:0.0	.	157	Q8NFZ8	CADM4_HUMAN	H	157	ENSP00000222374:R157H	ENSP00000222374:R157H	R	-	2	0	CADM4	48822805	1.000000	0.71417	1.000000	0.80357	0.015000	0.08874	6.171000	0.71926	2.560000	0.86352	0.591000	0.81541	CGC		0.647	CADM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463352.1	NM_145296		T	44130965	C	T	44130965	3	4	733	1	0	0	0	0	1	0	0	0	2571	768	27	1	720	1	CADM4	19	44130965	Missense_Mutation	SNP	C	TCGA-KN-8427-01A-11D-2310-10	11017532	44130965	14998018	117	41408											
NAPA	8775	ucsc.edu	37	19	47991552	47991552	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr19:47991552A>G	ENST00000263354.3	-	11	1180	c.881T>C	c.(880-882)cTg>cCg	p.L294P	NAPA_ENST00000595227.1_Missense_Mutation_p.L255P|NAPA-AS1_ENST00000593284.1_RNA|NAPA-AS1_ENST00000594367.1_RNA	NM_003827.3	NP_003818.2	P54920	SNAA_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, alpha	294					apical protein localization (GO:0045176)|brain development (GO:0007420)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|membrane organization (GO:0061024)|neuron differentiation (GO:0030182)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of synaptic vesicle priming (GO:0010807)|SNARE complex disassembly (GO:0035494)|synaptic transmission, glutamatergic (GO:0035249)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)	11		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049)		GGCTTAGCGCAGGTCCTCCTC	0.622																																					Ovarian(185;1135 2042 27703 31345 42493)											0													115	94	101					19																	47991552		2203	4300	6503	SO:0001583	missense	8775			U39412	CCDS12702.1	19q13.33	2012-08-16			ENSG00000105402	ENSG00000105402			7641	protein-coding gene	gene with protein product	"alpha SNAP"	603215				9269766	Standard	NM_003827		Approved		uc002pha.2	P54920		ENST00000263354.3:c.881T>C	19.37:g.47991552A>G	ENSP00000263354:p.Leu294Pro		A8K879|Q96IK3|Q9BVJ3	Missense_Mutation	SNP	ENST00000263354.3	37	CCDS12702.1	.	.	.	.	.	.	.	.	.	.	A	16.37	3.103146	0.56183	.	.	ENSG00000105402	ENST00000263354	T	0.49139	0.79	4.8	4.8	0.61643	.	0.000000	0.64402	D	0.000001	T	0.74711	0.3752	M	0.92880	3.355	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.81645	-0.0839	10	0.87932	D	0	-14.239	13.486	0.61366	1.0:0.0:0.0:0.0	.	294	P54920	SNAA_HUMAN	P	294	ENSP00000263354:L294P	ENSP00000263354:L294P	L	-	2	0	NAPA	52683364	1.000000	0.71417	1.000000	0.80357	0.097000	0.18754	8.750000	0.91623	2.015000	0.59207	0.533000	0.62120	CTG		0.622	NAPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466048.2	NM_003827		G	47991552	A	G	47991552	3	3	733	1	0	0	0	0	1	0	0	0	10163	188	7	3	10	3	NAPA	19	47991552	Missense_Mutation	SNP	A	TCGA-KN-8427-01A-11D-2310-10	3860587	47991552	11137431	118	41409											
ZNF667	63934	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	19	56952705	56952705	+	Silent	SNP	T	T	C			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr19:56952705T>C	ENST00000504904.3	-	7	2378	c.1659A>G	c.(1657-1659)aaA>aaG	p.K553K	ZNF667_ENST00000342634.3_Silent_p.K681K|ZNF667_ENST00000292069.6_Silent_p.K553K|ZNF667_ENST00000591790.1_3'UTR			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	553					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)		ATTCATAGGGTTTCTCTCCAG	0.408																																																0													102	95	97					19																	56952705		2203	4300	6503	SO:0001819	synonymous_variant	63934				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.1659A>G	19.37:g.56952705T>C			B2RMS6|B9EK36|Q6B093|Q9H807	Silent	SNP	ENST00000504904.3	37	CCDS12944.1																																																																																				0.408	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458394.1	NM_022103		C	56952705	T	C	56952705	2	2	733	1	0	0	0	0	0	0	0	1	18079	1722	60	3		3	ZNF667	19	56952705	Silent	SNP	T	TCGA-KN-8427-01A-11D-2310-10	8961153	56952705	2176278	119	41410											
DDRGK1	65992	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	20	3172425	3172425	+	Missense_Mutation	SNP	C	C	A			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr20:3172425C>A	ENST00000354488.3	-	7	772	c.715G>T	c.(715-717)Ggc>Tgc	p.G239C	DDRGK1_ENST00000380201.2_Missense_Mutation_p.G239C|DDRGK1_ENST00000496781.1_5'Flank	NM_023935.1	NP_076424.1	Q96HY6	DDRGK_HUMAN	DDRGK domain containing 1	239	PCI.					endoplasmic reticulum (GO:0005783)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7						GTGCGTAGGCCCACCTGGGAA	0.547																																																0													56	43	48					20																	3172425		2202	4300	6502	SO:0001583	missense	65992			AL121891	CCDS13050.1	20p13	2011-08-18	2008-10-03	2008-10-03	ENSG00000198171	ENSG00000198171			16110	protein-coding gene	gene with protein product	"Dashurin"		"chromosome 20 open reading frame 116"	C20orf116		20036718, 20228063, 21494687	Standard	NM_023935		Approved	dJ1187M17.3	uc002wic.3	Q96HY6	OTTHUMG00000031732	ENST00000354488.3:c.715G>T	20.37:g.3172425C>A	ENSP00000346483:p.Gly239Cys		A6NIU5|C9JSZ5|Q9BW47	Missense_Mutation	SNP	ENST00000354488.3	37	CCDS13050.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.136183	0.77662	.	.	ENSG00000198171	ENST00000354488;ENST00000380213;ENST00000380201	T	0.52754	0.65	4.99	4.99	0.66335	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.71962	0.3402	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.77376	-0.2611	10	0.72032	D	0.01	-14.2679	15.7693	0.78152	0.0:1.0:0.0:0.0	.	239	Q96HY6	DDRGK_HUMAN	C	239	ENSP00000346483:G239C	ENSP00000346483:G239C	G	-	1	0	DDRGK1	3120425	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.054000	0.64275	2.332000	0.79248	0.591000	0.81541	GGC		0.547	DDRGK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077709.2	NM_023935		A	3172425	C	A	3172425	3	1	733	1	0	0	0	0	1	0	0	0	4340	623	22	4	241	4	DDRGK1	20	3172425	Missense_Mutation	SNP	C	TCGA-KN-8427-01A-11D-2310-10		3172425	59853095	120	41411											
WISP2	8839	mdanderson.org	37	20	43348735	43348735	+	Silent	SNP	C	C	A	rs2296530	byFrequency	TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr20:43348735C>A	ENST00000372868.2	+	3	601	c.258C>A	c.(256-258)ggC>ggA	p.G86G	WISP2_ENST00000372865.4_Silent_p.G86G|RP11-445H22.4_ENST00000445420.1_RNA|RP11-445H22.4_ENST00000427598.1_RNA|WISP2_ENST00000190983.4_Silent_p.G86G|RP11-445H22.4_ENST00000427303.1_RNA			O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2	86	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)				GACCCGGTGGCCGGGGGGCCC	0.706													C|||	1984	0.396166	0.4803	0.4452	5008	,	,		15685	0.3909		0.339	False		,,,				2504	0.3119															0								C		1905,2317		492,921,698	5	5	5		258	5.5	0.1	20	dbSNP_100	5	2588,5598		519,1550,2024	no	coding-synonymous	WISP2	NM_003881.2		1011,2471,2722	AA,AC,CC		31.615,45.1208,36.2105		86/251	43348735	4493,7915	2111	4093	6204	SO:0001819	synonymous_variant	8839			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.258C>A	20.37:g.43348735C>A			B2R9N4|E1P612|Q6PEG3	Silent	SNP	ENST00000372868.2	37	CCDS13336.1																																																																																				0.706	WISP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127824.1	NM_003881		A	43348735	C	A	43348735	2	1	733	1	0	0	0	0	0	0	0	1	17378	726	26	4		4	WISP2	20	43348735	Silent	SNP	C	TCGA-KN-8427-01A-11D-2310-10	40176310	43348735	19676785	121	41412											
DIDO1	11083	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	20	61525220	61525220	+	Missense_Mutation	SNP	C	C	A			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr20:61525220C>A	ENST00000266070.4	-	12	3224	c.2899G>T	c.(2899-2901)Gac>Tac	p.D967Y	DIDO1_ENST00000395340.1_Missense_Mutation_p.D967Y|DIDO1_ENST00000395335.2_Missense_Mutation_p.D967Y|DIDO1_ENST00000395343.1_Missense_Mutation_p.D967Y	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	967					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)					GTCCTGGGGTCCCGGCCGGAC	0.677																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)											0													63	61	62					20																	61525220		2203	4300	6503	SO:0001583	missense	11083			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.2899G>T	20.37:g.61525220C>A	ENSP00000266070:p.Asp967Tyr		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.923538	0.92319	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335	T;T;T;T	0.45668	1.91;1.91;0.89;0.89	6.17	6.17	0.99709	.	0.000000	0.44902	D	0.000420	T	0.67487	0.2898	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.66705	-0.5856	10	0.87932	D	0	-55.9966	20.8794	0.99867	0.0:1.0:0.0:0.0	.	967;967	Q9BTC0-1;Q9BTC0	.;DIDO1_HUMAN	Y	967	ENSP00000266070:D967Y;ENSP00000378752:D967Y;ENSP00000378749:D967Y;ENSP00000378744:D967Y	ENSP00000266070:D967Y	D	-	1	0	DIDO1	60995665	1.000000	0.71417	0.997000	0.53966	0.949000	0.60115	6.112000	0.71547	2.941000	0.99782	0.655000	0.94253	GAC		0.677	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		A	61525220	C	A	61525220	3	1	733	1	0	0	0	0	1	0	0	0	4524	855	30	4	3872	4	DIDO1	20	61525220	Missense_Mutation	SNP	C	TCGA-KN-8427-01A-11D-2310-10	18176485	61525220	1500300	122	41413											
PFKL	5211	hgsc.bcm.edu	37	21	45744402	45744402	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr21:45744402C>T	ENST00000349048.4	+	17	1734	c.1679C>T	c.(1678-1680)tCg>tTg	p.S560L	PFKL_ENST00000403390.1_Missense_Mutation_p.S607L	NM_002626.4	NP_002617.3	P17858	PFKAL_HUMAN	phosphofructokinase, liver	560	C-terminal regulatory PFK domain 2.				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.S607L(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)		CAGTCTGCCTCGGGGACCAAG	0.667																																																1	Substitution - Missense(1)	skin(1)											69	64	66					21																	45744402		2202	4300	6502	SO:0001583	missense	5211				CCDS33582.1	21q22.3	1992-12-17			ENSG00000141959	ENSG00000141959	2.7.1.11		8876	protein-coding gene	gene with protein product		171860					Standard	NR_024108		Approved		uc002zel.3	P17858	OTTHUMG00000086910	ENST00000349048.4:c.1679C>T	21.37:g.45744402C>T	ENSP00000269848:p.Ser560Leu		Q96A64|Q96IH4|Q9BR91	Missense_Mutation	SNP	ENST00000349048.4	37	CCDS33582.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.282805	0.40394	.	.	ENSG00000141959	ENST00000349048;ENST00000534847;ENST00000403390	T;T	0.77750	-1.12;-1.12	4.1	4.1	0.47936	Phosphofructokinase domain (2);	0.000000	0.85682	D	0.000000	D	0.84790	0.5550	M	0.79805	2.47	0.46823	D	0.999219	B;D	0.60575	0.034;0.988	B;P	0.59171	0.023;0.853	D	0.85581	0.1240	10	0.48119	T	0.1	-12.4209	11.2359	0.48940	0.0:0.8136:0.1864:0.0	.	560;607	P17858;P17858-2	K6PL_HUMAN;.	L	560;353;607	ENSP00000269848:S560L;ENSP00000384038:S607L	ENSP00000269848:S560L	S	+	2	0	PFKL	44568830	0.753000	0.28349	0.971000	0.41717	0.412000	0.31113	2.861000	0.48380	1.852000	0.53769	0.467000	0.42956	TCG		0.667	PFKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195805.1			T	45744402	C	T	45744402	3	4	733	1	0	0	0	0	1	0	0	0	11766	893	31	1	1745	1	PFKL	21	45744402	Missense_Mutation	SNP	C	TCGA-KN-8427-01A-11D-2310-10		45744402	2385493	123	41414											
TTLL12	23170	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	22	43565506	43565506	+	Splice_Site	SNP	C	C	T			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr22:43565506C>T	ENST00000216129.6	-	12	1707	c.1644G>A	c.(1642-1644)caG>caA	p.Q548Q	TTLL12_ENST00000494035.1_5'UTR	NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	548	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)					central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				CAGGAATTACCTGGACGTCCG	0.622																																																0													50	43	45					22																	43565506		2202	4299	6501	SO:0001630	splice_region_variant	23170			D63487	CCDS14047.1	22q13.31	2013-02-14	2006-02-02		ENSG00000100304	ENSG00000100304		"Tubulin tyrosine ligase-like family"	28974	protein-coding gene	gene with protein product						15890843	Standard	NM_015140		Approved	KIAA0153	uc003bdp.3	Q14166	OTTHUMG00000150682	ENST00000216129.6:c.1644+1G>A	22.37:g.43565506C>T			Q20WK5|Q9UGU3	Silent	SNP	ENST00000216129.6	37	CCDS14047.1																																																																																				0.622	TTLL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319611.1	NM_015140	Silent	T	43565506	C	T	43565506	5	4	733	1	0	0	0	0	0	0	1	0	16730	695	24	2	302	2	TTLL12	22	43565506	Splice_Site	SNP	C	TCGA-KN-8427-01A-11D-2310-10		43565506	7739060	124	41415											
PRR5	55615	mdanderson.org	37	22	45132785	45132785	+	Silent	SNP	T	T	C	rs6006865	byFrequency	TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr22:45132785T>C	ENST00000336985.6	+	8	1102	c.825T>C	c.(823-825)ggT>ggC	p.G275G	PRR5-ARHGAP8_ENST00000361473.5_Intron|ARHGAP8_ENST00000389773.5_Intron|PRR5_ENST00000006251.7_Silent_p.G266G|PRR5_ENST00000403581.1_Silent_p.G298G|PRR5-ARHGAP8_ENST00000352766.7_Intron|ARHGAP8_ENST00000517296.3_Intron|PRR5_ENST00000477331.1_3'UTR	NM_181333.3	NP_851850.1	P85299	PRR5_HUMAN	proline rich 5 (renal)	275					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)		CGGCCGGCGGTACCAGCATCC	0.697													C|||	362	0.0722843	0.084	0.1167	5008	,	,		12728	0.0704		0.0308	False		,,,				2504	0.0695															0								C	,,,,,,	319,4049		6,307,1871	17	21	20		798,540,540,894,798,825,	4.4	0	22	dbSNP_114	20	249,8303		5,239,4032	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,intron	PRR5,PRR5-ARHGAP8	NM_001017528.2,NM_001017529.2,NM_001017530.1,NM_001198721.1,NM_015366.3,NM_181333.3,NM_181334.4	,,,,,,	11,546,5903	CC,CT,TT		2.9116,7.3031,4.3963	,,,,,,	266/380,180/294,180/294,298/412,266/380,275/389,	45132785	568,12352	2184	4276	6460	SO:0001819	synonymous_variant	55615			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.825T>C	22.37:g.45132785T>C			B1AHF6|B1AHG5|B3KP73|O75983|O95695|Q5BIW2|Q5EAJ8|Q5EAJ9|Q5XKJ6|Q96RW1|Q96RW2|Q9HA49|Q9HC46|Q9NSG0|Q9NVX8|Q9NXL1|Q9UH20	Silent	SNP	ENST00000336985.6	37	CCDS14058.1	121	0.0554029304029304	32	0.06504065040650407	33	0.09116022099447514	37	0.06468531468531469	19	0.025065963060686015	C	2.996	-0.207184	0.06180	0.073031	0.029116	ENSG00000186654	ENST00000455389	.	.	.	5.41	4.39	0.52855	.	.	.	.	.	T	0.03520	0.0101	.	.	.	0.27874	P	0.9399136	.	.	.	.	.	.	T	0.34850	-0.9812	3	.	.	.	.	10.4463	0.44497	0.0:0.6788:0.2508:0.0704	rs6006865	.	.	.	A	235	.	.	V	+	2	0	PRR5	43511449	0.001000	0.12720	0.003000	0.11579	0.090000	0.18270	-0.032000	0.12266	0.672000	0.31204	-0.642000	0.03964	GTA		0.697	PRR5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318200.2	NM_001017528		C	45132785	T	C	45132785	2	2	733	1	0	0	0	0	0	0	0	1	12605	1625	57	3		3	PRR5	22	45132785	Silent	SNP	T	TCGA-KN-8427-01A-11D-2310-10	1567279	45132785	6171781	125	41416											
XPNPEP2	7512	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	X	128886303	128886303	+	Silent	SNP	C	C	T			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chrX:128886303C>T	ENST00000371106.3	+	10	1191	c.999C>T	c.(997-999)atC>atT	p.I333I		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	333						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						TGTATGGGATCTATGAAATGA	0.512																																																0													121	100	107					X																	128886303		2203	4299	6502	SO:0001819	synonymous_variant	7512			U90724	CCDS14613.1	Xq25	2008-02-05			ENSG00000122121	ENSG00000122121	3.4.11.9		12823	protein-coding gene	gene with protein product		300145				9375790, 9628831	Standard	NM_003399		Approved		uc004eut.1	O43895	OTTHUMG00000022373	ENST00000371106.3:c.999C>T	X.37:g.128886303C>T			A0AV16|O75994	Silent	SNP	ENST00000371106.3	37	CCDS14613.1																																																																																				0.512	XPNPEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058210.1	NM_003399		T	128886303	C	T	128886303	2	4	733	1	0	0	0	0	0	0	0	1	17448	903	32	2		2	XPNPEP2	23	128886303	Silent	SNP	C	TCGA-KN-8427-01A-11D-2310-10		128886303	26384257	126	41417											
GPR101	83550	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	X	136112626	136112626	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chrX:136112626A>G	ENST00000298110.1	-	1	1207	c.1208T>C	c.(1207-1209)aTc>aCc	p.I403T		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	403						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)					GAAAATGATGATGAAGATCAC	0.552																																																0													118	108	112					X																	136112626		2203	4300	6503	SO:0001583	missense	83550			AF411115	CCDS14662.1	Xq26.3	2014-01-30			ENSG00000165370	ENSG00000165370		"GPCR / Class A : Orphans"	14963	protein-coding gene	gene with protein product		300393				11574155	Standard	NM_054021		Approved		uc011mwh.2	Q96P66	OTTHUMG00000022521	ENST00000298110.1:c.1208T>C	X.37:g.136112626A>G	ENSP00000298110:p.Ile403Thr		Q5JSM8|Q8NG93	Missense_Mutation	SNP	ENST00000298110.1	37	CCDS14662.1	.	.	.	.	.	.	.	.	.	.	A	13.28	2.189604	0.38707	.	.	ENSG00000165370	ENST00000298110	T	0.39406	1.08	5.77	5.77	0.91146	GPCR, rhodopsin-like superfamily (1);	0.916112	0.08872	N	0.881448	T	0.33789	0.0875	L	0.34521	1.04	0.29580	N	0.849237	B	0.32010	0.351	B	0.30943	0.122	T	0.32375	-0.9909	10	0.56958	D	0.05	-10.9714	7.6287	0.28226	0.9061:0.0:0.0939:0.0	.	403	Q96P66	GP101_HUMAN	T	403	ENSP00000298110:I403T	ENSP00000298110:I403T	I	-	2	0	GPR101	135940292	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.618000	0.54188	1.950000	0.56595	0.430000	0.28490	ATC		0.552	GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058519.1			G	136112626	A	G	136112626	3	3	733	1	0	0	0	0	1	0	0	0	6624	333	12	3	321	3	GPR101	23	136112626	Missense_Mutation	SNP	A	TCGA-KN-8427-01A-11D-2310-10	7226323	136112626	19157934	127	41418											
ABCD1	215	mdanderson.org	37	X	153006092	153006093	+	Nonsense_Mutation	DNP	CA	CA	TG	rs201878013|rs201114595		TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	CA	CA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chrX:153006092_153006093CA>TG	ENST00000218104.3	+	7	2098_2099	c.1699_1700CA>TG	c.(1699-1701)CAa>TGa	p.Q567*	U52111.14_ENST00000434284.1_RNA	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	567	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				alpha-linolenic acid metabolic process (GO:0036109)|ATP catabolic process (GO:0006200)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|linoleic acid metabolic process (GO:0043651)|long-chain fatty acid catabolic process (GO:0042758)|peroxisomal long-chain fatty acid import (GO:0015910)|peroxisomal membrane transport (GO:0015919)|peroxisome organization (GO:0007031)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid catabolic process (GO:0042760)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|peroxisomal fatty-acyl-CoA transporter activity (GO:0005325)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGAGGACATGCAAAGGAAGGGC	0.644																																																0			GRCh37	CM050985	ABCD1	M																																				SO:0001587	stop_gained	215			Z21876	CCDS14728.1	Xq28	2012-03-14			ENSG00000101986	ENSG00000101986		"ATP binding cassette transporters / subfamily D"	61	protein-coding gene	gene with protein product		300371		ALD		8441467, 6795626	Standard	NM_000033		Approved	AMN, ALDP, adrenoleukodystrophy	uc004fif.2	P33897	OTTHUMG00000024215	Exception_encountered	X.37:g.153006092_153006093delinsTG	ENSP00000218104:p.Gln567*		Q6GTZ2	Missense_Mutation	DNP	ENST00000218104.3	37	CCDS14728.1																																																																																				0.644	ABCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061041.1	NM_000033		TG	153006093	CA	TG	153006092	4	4	733	1	0	0	0	0	0	1	0	0	60	711	25	2	1725	2	ABCD1	23	153006092	Nonsense_Mutation	DNP	CA	TCGA-KN-8427-01A-11D-2310-10	16893466	153006092	2264468	128	41419											
HES4	57801	broad.mit.edu;mdanderson.org	37	1	934923	934923	+	Missense_Mutation	SNP	C	C	T	rs372013830		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:934923C>T	ENST00000304952.6	-	3	412	c.275G>A	c.(274-276)cGt>cAt	p.R92H	HES4_ENST00000484667.2_Missense_Mutation_p.R60H|HES4_ENST00000428771.2_Missense_Mutation_p.R118H|RP11-54O7.17_ENST00000606034.1_lincRNA			Q9HCC6	HES4_HUMAN	hes family bHLH transcription factor 4	92					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription factor binding (GO:0008134)			lung(2)	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;9.36e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.41e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00237)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTGCACGCGACGCAGGCTCCG	0.736																																																0								C	HIS/ARG,HIS/ARG	1,4227		0,1,2113	9	11	11		353,275	-1.2	0.1	1		11	0,8430		0,0,4215	no	missense,missense	HES4	NM_001142467.1,NM_021170.3	29,29	0,1,6328	TT,TC,CC		0.0,0.0237,0.0079	probably-damaging,probably-damaging	118/248,92/222	934923	1,12657	2114	4215	6329	SO:0001583	missense	57801			BC012351	CCDS5.1, CCDS44034.1	1p36	2013-10-17	2013-10-17		ENSG00000188290	ENSG00000188290		"Basic helix-loop-helix proteins"	24149	protein-coding gene	gene with protein product		608060	"hairy and enhancer of split 4 (Drosophila)"			11260262, 15254753	Standard	NM_021170		Approved	bHLHb42	uc001aci.2	Q9HCC6	OTTHUMG00000040758	ENST00000304952.6:c.275G>A	1.37:g.934923C>T	ENSP00000304595:p.Arg92His		Q5SVA5	Missense_Mutation	SNP	ENST00000304952.6	37	CCDS5.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.811275	0.50527	2.37E-4	0.0	ENSG00000188290	ENST00000428771;ENST00000304952;ENST00000484667	D;D;T	0.97642	-4.47;-4.47;1.49	3.29	-1.18	0.09617	Helix-loop-helix DNA-binding (4);	0.530450	0.14196	U	0.335030	D	0.92047	0.7480	N	0.25485	0.75	0.33046	D	0.532084	B;P	0.34837	0.226;0.472	B;B	0.34824	0.058;0.19	D	0.88177	0.2868	10	0.48119	T	0.1	.	8.16	0.31194	0.0:0.2009:0.0:0.7991	.	118;92	E9PB28;Q9HCC6	.;HES4_HUMAN	H	118;92;60	ENSP00000393198:R118H;ENSP00000304595:R92H;ENSP00000425085:R60H	ENSP00000304595:R92H	R	-	2	0	HES4	924786	1.000000	0.71417	0.051000	0.19133	0.875000	0.50365	1.671000	0.37513	-0.096000	0.12329	0.407000	0.27541	CGT		0.736	HES4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097944.1	NM_021170		T	934923	C	T	934923	3	4	734	1	0	0	0	0	1	0	0	0	7070	536	19	1	398	1	HES4	1	934923	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10		934923	248315698	1	41420											
AGRN	375790	broad.mit.edu	37	1	978746	978746	+	Silent	SNP	C	C	T	rs527601442		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:978746C>T	ENST00000379370.2	+	8	1562	c.1512C>T	c.(1510-1512)agC>agT	p.S504S		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	504	Kazal-like 5. {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)		TGTGCGGCAGCGACGGCGTCA	0.662													C|||	1	0.000199681	0.0	0.0	5008	,	,		14876	0.0		0.0	False		,,,				2504	0.001															0													62	51	54					1																	978746		2198	4296	6494	SO:0001819	synonymous_variant	375790			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.1512C>T	1.37:g.978746C>T			Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Silent	SNP	ENST00000379370.2	37	CCDS30551.1																																																																																				0.662	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576		T	978746	C	T	978746	2	4	734	1	0	0	0	0	0	0	0	1	397	767	27	1		1	AGRN	1	978746	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	43823	978746	248271875	2	41421											
AGRN	375790	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	985016	985016	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:985016C>T	ENST00000379370.2	+	26	4635	c.4585C>T	c.(4585-4587)Cgc>Tgc	p.R1529C		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1529	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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)		CAACAACCAGCGCCTGGAGCT	0.731																																																0													12	16	14					1																	985016		2180	4279	6459	SO:0001583	missense	375790			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.4585C>T	1.37:g.985016C>T	ENSP00000368678:p.Arg1529Cys		Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Missense_Mutation	SNP	ENST00000379370.2	37	CCDS30551.1	.	.	.	.	.	.	.	.	.	.	c	11.61	1.689710	0.29962	.	.	ENSG00000188157	ENST00000379370	T	0.75938	-0.98	4.34	2.3	0.28687	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, subdomain 1 (1);	1.296030	0.05695	U	0.593034	T	0.68320	0.2988	L	0.42245	1.32	0.09310	N	1	P	0.43431	0.807	B	0.41088	0.347	T	0.60910	-0.7169	10	0.51188	T	0.08	-6.052	8.2735	0.31857	0.2411:0.63:0.1289:0.0	.	1529	O00468	AGRIN_HUMAN	C	1529	ENSP00000368678:R1529C	ENSP00000368678:R1529C	R	+	1	0	AGRN	974879	0.006000	0.16342	0.917000	0.36280	0.023000	0.10783	0.566000	0.23593	2.145000	0.66743	0.298000	0.19748	CGC		0.731	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576		T	985016	C	T	985016	3	4	734	1	0	0	0	0	1	0	0	0	397	768	27	1	4687	1	AGRN	1	985016	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	6270	985016	248265605	3	41422											
ACAP3	116983	mdanderson.org	37	1	1229953	1229953	+	Silent	SNP	C	C	T	rs574689077		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:1229953C>T	ENST00000354700.5	-	21	2170	c.1968G>A	c.(1966-1968)gaG>gaA	p.E656E	ACAP3_ENST00000379037.2_5'Flank|ACAP3_ENST00000353662.3_Silent_p.E581E	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	656					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						GGCCCCAGGCCTCGGCCTCAG	0.761													C|||	1	0.000199681	0.0	0.0014	5008	,	,		10451	0.0		0.0	False		,,,				2504	0.0															0																																										SO:0001819	synonymous_variant	116983			AF411981	CCDS19.2	1p36	2013-01-10	2008-09-22	2008-09-22	ENSG00000131584	ENSG00000131584		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16754	protein-coding gene	gene with protein product			"centaurin, beta 5"	CENTB5			Standard	NM_030649		Approved	KIAA1716	uc001aeb.2	Q96P50	OTTHUMG00000002235	ENST00000354700.5:c.1968G>A	1.37:g.1229953C>T			B1AMF5|Q5TA42|Q5TA43|Q86UT3|Q9BSR9|Q9C0E7	Silent	SNP	ENST00000354700.5	37	CCDS19.2																																																																																				0.761	ACAP3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006366.2	NM_030649		T	1229953	C	T	1229953	2	4	734	1	0	0	0	0	0	0	0	1	120	680	24	2		2	ACAP3	1	1229953	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	244937	1229953	248020668	4	41423											
GABRD	2563	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	1956478	1956478	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:1956478C>T	ENST00000378585.4	+	2	249	c.166C>T	c.(166-168)Cgg>Tgg	p.R56W		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	56					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)	CCGCAACTTCCGGCCTGGCAT	0.682																																																0													29	31	30					1																	1956478		2203	4299	6502	SO:0001583	missense	2563			BC033801	CCDS36.1	1p36.3	2012-06-22			ENSG00000187730	ENSG00000187730		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4084	protein-coding gene	gene with protein product	"GABA(A) receptor, delta"	137163				2176788, 10965146	Standard	NM_000815		Approved		uc001aip.2	O14764	OTTHUMG00000041064	ENST00000378585.4:c.166C>T	1.37:g.1956478C>T	ENSP00000367848:p.Arg56Trp		Q8N4N9	Missense_Mutation	SNP	ENST00000378585.4	37	CCDS36.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.997979	0.54147	.	.	ENSG00000187730	ENST00000378585	D	0.83591	-1.74	4.84	3.8	0.43715	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.64402	D	0.000002	D	0.89993	0.6876	M	0.82630	2.6	0.58432	D	0.999992	D	0.89917	1.0	D	0.87578	0.998	D	0.90344	0.4361	10	0.87932	D	0	-17.3036	9.5764	0.39461	0.3134:0.6866:0.0:0.0	.	56	O14764	GBRD_HUMAN	W	56	ENSP00000367848:R56W	ENSP00000367848:R56W	R	+	1	2	GABRD	1946338	1.000000	0.71417	1.000000	0.80357	0.376000	0.30014	1.696000	0.37773	2.425000	0.82216	0.555000	0.69702	CGG		0.682	GABRD-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098493.1	NM_000815		T	1956478	C	T	1956478	3	4	734	1	0	0	0	0	1	0	0	0	6171	643	23	1	172	1	GABRD	1	1956478	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	726525	1956478	247294143	5	41424											
WDR8	49856	broad.mit.edu	37	1	3547644	3547644	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:3547644G>A	ENST00000270708.7	-	12	1351	c.1278C>T	c.(1276-1278)agC>agT	p.S426S	WRAP73_ENST00000378322.3_3'UTR	NM_017818.3	NP_060288.3	Q9P2S5	WRP73_HUMAN	WD repeat containing, antisense to TP73	426						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						TCGAGTCTCCGCTTAAATGCC	0.602																																																0													65	63	64					1																	3547644		2203	4300	6503	SO:0001819	synonymous_variant	49856			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.1278C>T	1.37:g.3547644G>A			Q5T0D6|Q9BUH7|Q9NTK7|Q9NX56	Silent	SNP	ENST00000270708.7	37	CCDS48.1																																																																																				0.602	WRAP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001470.1			A	3547644	G	A	3547644	2	1	734	1	0	0	0	0	0	0	0	1	17334	1078	38	1		1	WDR8	1	3547644	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1591166	3547644	245702977	6	41425											
TP73	7161	broad.mit.edu;mdanderson.org;bcgsc.ca	37	1	3599709	3599709	+	Missense_Mutation	SNP	G	G	A	rs146218192		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:3599709G>A	ENST00000378295.4	+	3	306	c.151G>A	c.(151-153)Gtc>Atc	p.V51I	TP73_ENST00000604074.1_Missense_Mutation_p.V51I|TP73_ENST00000354437.4_Missense_Mutation_p.V51I|TP73_ENST00000604479.1_Missense_Mutation_p.V51I|TP73_ENST00000603362.1_Missense_Mutation_p.V51I|TP73_ENST00000357733.3_Missense_Mutation_p.V51I|TP73_ENST00000346387.4_Missense_Mutation_p.V51I	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	51	Asp/Glu-rich (acidic).				activation of MAPK activity (GO:0000187)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|digestive tract morphogenesis (GO:0048546)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|hippocampus development (GO:0021766)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|kidney development (GO:0001822)|mismatch repair (GO:0006298)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron development (GO:0048666)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell size (GO:0045793)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein tetramerization (GO:0051262)|release of cytochrome c from mitochondria (GO:0001836)|response to gamma radiation (GO:0010332)|response to organonitrogen compound (GO:0010243)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		CAGCATGGACGTCTTCCACCT	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		19210	0.0		0.001	False		,,,				2504	0.0															0								G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	119	114	115		151,151,151,151,151,151	4.6	1	1	dbSNP_134	115	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense	TP73	NM_001204184.1,NM_001204185.1,NM_001204186.1,NM_001204187.1,NM_001204188.1,NM_005427.3	29,29,29,29,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	51/500,51/476,51/404,51/556,51/541,51/637	3599709	1,13005	2203	4300	6503	SO:0001583	missense	7161			AB055065	CCDS49.1, CCDS44049.1, CCDS44050.1, CCDS44051.1, CCDS55566.1, CCDS55567.1, CCDS55568.1, CCDS55569.1, CCDS59965.1	1p36.3	2010-06-15			ENSG00000078900	ENSG00000078900			12003	protein-coding gene	gene with protein product		601990				9296498, 9288759	Standard	NM_001204186		Approved	P73	uc001akp.3	O15350	OTTHUMG00000000610	ENST00000378295.4:c.151G>A	1.37:g.3599709G>A	ENSP00000367545:p.Val51Ile		B7Z7J4|B7Z8Z1|B7Z9C1|C9J521|O15351|Q17RN8|Q5TBV5|Q5TBV6|Q8NHW9|Q8TDY5|Q8TDY6|Q9NTK8	Missense_Mutation	SNP	ENST00000378295.4	37	CCDS49.1	.	.	.	.	.	.	.	.	.	.	G	12.23	1.875023	0.33162	2.27E-4	0.0	ENSG00000078900	ENST00000378295;ENST00000354437;ENST00000357733;ENST00000346387	D;D;D;D	0.99422	-5.76;-5.88;-5.62;-5.72	4.6	4.6	0.57074	.	0.000000	0.64402	U	0.000002	D	0.99171	0.9713	L	0.48642	1.525	0.80722	D	1	D;D	0.76494	0.993;0.999	P;D	0.72982	0.848;0.979	D	0.99379	1.0922	10	0.36615	T	0.2	-38.0352	16.7783	0.85557	0.0:0.0:1.0:0.0	.	51;51	O15350-2;O15350	.;P73_HUMAN	I	51	ENSP00000367545:V51I;ENSP00000346423:V51I;ENSP00000350366:V51I;ENSP00000340740:V51I	ENSP00000340740:V51I	V	+	1	0	TP73	3589569	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	4.352000	0.59404	2.250000	0.74265	0.563000	0.77884	GTC		0.597	TP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001468.4	NM_005427		A	3599709	G	A	3599709	3	1	734	1	0	0	0	0	1	0	0	0	16398	1145	40	1	157	1	TP73	1	3599709	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	52065	3599709	245650912	7	41426											
C1orf174	339448	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	1	3807424	3807424	+	Silent	SNP	G	G	A	rs368113639		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:3807424G>A	ENST00000361605.3	-	3	425	c.327C>T	c.(325-327)ggC>ggT	p.G109G	C1orf174_ENST00000486765.1_5'UTR	NM_207356.2	NP_997239.2	Q8IYL3	CA174_HUMAN	chromosome 1 open reading frame 174	109						nucleus (GO:0005634)				endometrium(1)|large_intestine(5)|lung(4)|prostate(1)	11	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;5.09e-25)|all_epithelial(116;9.35e-17)|all_lung(118;1.09e-06)|Lung NSC(185;0.000139)|all_neural(13;0.00287)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0219)|all_hematologic(16;0.027)|Colorectal(325;0.0276)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;1.55e-39)|OV - Ovarian serous cystadenocarcinoma(86;5.99e-23)|GBM - Glioblastoma multiforme(42;2.22e-17)|Colorectal(212;1.08e-05)|COAD - Colon adenocarcinoma(227;5.49e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000365)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.19)		GCACAGAAACGCCAGCCTCGC	0.542																																																0								G		0,4406		0,0,2203	58	56	57		327	-11.1	0	1		57	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	C1orf174	NM_207356.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		109/244	3807424	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	339448			BC035643	CCDS53.1	1p36.32	2012-07-25			ENSG00000198912	ENSG00000198912			27915	protein-coding gene	gene with protein product						12477932	Standard	NM_207356		Approved	RP13-531C17.2	uc001alf.3	Q8IYL3	OTTHUMG00000003739	ENST00000361605.3:c.327C>T	1.37:g.3807424G>A			A8K0C8|A8MUG9|Q5SR20|Q6NX36	Silent	SNP	ENST00000361605.3	37	CCDS53.1																																																																																				0.542	C1orf174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010539.1	NM_207356		A	3807424	G	A	3807424	2	1	734	1	0	0	0	0	0	0	0	1	2017	1074	38	1		1	C1orf174	1	3807424	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	207715	3807424	245443197	8	41427											
NPHP4	261734	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	5951002	5951002	+	Missense_Mutation	SNP	C	C	T	rs199712626		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:5951002C>T	ENST00000378156.4	-	17	2495	c.2230G>A	c.(2230-2232)Gtg>Atg	p.V744M	NPHP4_ENST00000478423.2_5'UTR|AL356261.1_ENST00000585151.1_RNA	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	744					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		AGGGTCTGCACGGCCAGGTAG	0.622																																																0								C	MET/VAL	2,4004		0,2,2001	26	29	28		2230	-5.9	0	1		28	2,8314		0,2,4156	yes	missense	NPHP4	NM_015102.3	21	0,4,6157	TT,TC,CC		0.0241,0.0499,0.0325	benign	744/1427	5951002	4,12318	2003	4158	6161	SO:0001583	missense	261734			AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"nephroretinin", "nephrocystin-4", "POC10 centriolar protein homolog (Chlamydomonas)"	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.2230G>A	1.37:g.5951002C>T	ENSP00000367398:p.Val744Met		Q8IWC0	Missense_Mutation	SNP	ENST00000378156.4	37	CCDS44052.1	.	.	.	.	.	.	.	.	.	.	C	5.218	0.225771	0.09916	4.99E-4	2.41E-4	ENSG00000131697	ENST00000378156;ENST00000378160	D	0.87029	-2.2	5.61	-5.93	0.02254	.	1.385230	0.04696	N	0.415002	T	0.73401	0.3582	L	0.27053	0.805	0.09310	N	1	B	0.18610	0.029	B	0.15052	0.012	T	0.56697	-0.7936	10	0.46703	T	0.11	.	0.4116	0.00442	0.2859:0.1877:0.2805:0.246	.	744	O75161	NPHP4_HUMAN	M	744;147	ENSP00000367398:V744M	ENSP00000367398:V744M	V	-	1	0	NPHP4	5873589	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.832000	0.01696	-0.814000	0.04352	-2.328000	0.00250	GTG		0.622	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2			T	5951002	C	T	5951002	3	4	734	1	0	0	0	0	1	0	0	0	10583	536	19	1	2106	1	NPHP4	1	5951002	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	2143578	5951002	243299619	9	41428											
ZBTB48	3104	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	1	6646763	6646763	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:6646763G>A	ENST00000377674.4	+	5	1211	c.1053G>A	c.(1051-1053)acG>acA	p.T351T		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	351				FT -> LP (in Ref. 1; AAA65124). {ECO:0000305}.	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)		AGGTCTTCACGTGCTCTGTGT	0.637																																					Esophageal Squamous(125;1449 1657 4031 29866 49542)											0													79	57	64					1																	6646763		2203	4299	6502	SO:0001819	synonymous_variant	3104			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.1053G>A	1.37:g.6646763G>A			Q5SY19	Silent	SNP	ENST00000377674.4	37	CCDS84.1																																																																																				0.637	ZBTB48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004193.1	NM_005341		A	6646763	G	A	6646763	2	1	734	1	0	0	0	0	0	0	0	1	17554	1132	40	1		1	ZBTB48	1	6646763	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	695761	6646763	242603858	10	41429											
SLC45A1	50651	broad.mit.edu	37	1	8385423	8385423	+	Missense_Mutation	SNP	C	C	T	rs200531790	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:8385423C>T	ENST00000471889.1	+	3	848	c.463C>T	c.(463-465)Cgc>Tgc	p.R155C	Y_RNA_ENST00000516445.1_RNA|SLC45A1_ENST00000377479.2_Missense_Mutation_p.R189C|SLC45A1_ENST00000289877.8_Missense_Mutation_p.R155C			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	155					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)		TGGAAGGAGACGCCCTTTCAT	0.483													C|||	2	0.000399361	0.0015	0.0	5008	,	,		16918	0.0		0.0	False		,,,				2504	0.0															0													182	160	167					1																	8385423		2203	4300	6503	SO:0001583	missense	50651			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.463C>T	1.37:g.8385423C>T	ENSP00000418096:p.Arg155Cys		Q5VY46|Q5VY49	Missense_Mutation	SNP	ENST00000471889.1	37	CCDS30577.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	19.52	3.842456	0.71488	.	.	ENSG00000162426	ENST00000471889;ENST00000377479;ENST00000289877	D;D;D	0.96041	-3.89;-3.89;-3.89	5.55	4.58	0.56647	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.97851	0.9294	M	0.91038	3.17	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98003	1.0361	10	0.87932	D	0	-37.0141	11.4331	0.50052	0.3221:0.6779:0.0:0.0	.	155	Q9Y2W3	S45A1_HUMAN	C	155;189;155	ENSP00000418096:R155C;ENSP00000366699:R189C;ENSP00000289877:R155C	ENSP00000289877:R155C	R	+	1	0	SLC45A1	8308010	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.393000	0.34497	2.594000	0.87642	0.650000	0.86243	CGC		0.483	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001245.5			T	8385423	C	T	8385423	3	4	734	1	0	0	0	0	1	0	0	0	14646	536	19	1	469	1	SLC45A1	1	8385423	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1738660	8385423	240865198	11	41430											
RERE	473	mdanderson.org	37	1	8421203	8421203	+	Silent	SNP	T	T	C	rs13596	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:8421203T>C	ENST00000337907.3	-	19	2998	c.2364A>G	c.(2362-2364)ccA>ccG	p.P788P	RERE_ENST00000377464.1_Silent_p.P520P|RERE_ENST00000476556.1_Silent_p.P234P|RERE_ENST00000400907.2_Intron|RERE_ENST00000400908.2_Silent_p.P788P	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	788	Pro-rich.				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)		TGGGAGCCTGTGGCTGGTTAG	0.731													t|||	4006	0.79992	0.8411	0.7925	5008	,	,		12992	0.9206		0.6819	False		,,,				2504	0.7464															0								T	,,	3390,752		1409,572,90	6	7	7		2364,702,2364	-10	0	1	dbSNP_52	7	5605,2589		1942,1721,434	no	coding-synonymous,coding-synonymous,coding-synonymous	RERE	NM_001042681.1,NM_001042682.1,NM_012102.3	,,	3351,2293,524	CC,CT,TT		31.5963,18.1555,27.0833	,,	788/1567,234/1013,788/1567	8421203	8995,3341	2071	4097	6168	SO:0001819	synonymous_variant	473			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.2364A>G	1.37:g.8421203T>C			O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Silent	SNP	ENST00000337907.3	37	CCDS95.1																																																																																				0.731	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			C	8421203	T	C	8421203	2	2	734	1	0	0	0	0	0	0	0	1	13237	1683	59	3		3	RERE	1	8421203	Silent	SNP	T	TCGA-KN-8428-01A-11D-2310-10	35780	8421203	240829418	12	41431											
UBE4B	10277	broad.mit.edu;bcgsc.ca	37	1	10155570	10155570	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:10155570C>T	ENST00000253251.8	+	3	1102	c.263C>T	c.(262-264)tCg>tTg	p.S88L	UBE4B_ENST00000377157.3_5'UTR|UBE4B_ENST00000343090.6_Missense_Mutation_p.S88L					ubiquitination factor E4B											NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-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;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		CTCAGCAGCTCGCCCTCTAAT	0.468																																																0													154	124	134					1																	10155570		2203	4300	6503	SO:0001583	missense	10277			AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939		"U-box domain containing"	12500	protein-coding gene	gene with protein product		613565	"ubiquitination factor E4B (homologous to yeast UFD2)", "ubiquitination factor E4B (UFD2 homolog, yeast)"			9734811, 10089879	Standard	NM_006048		Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000253251.8:c.263C>T	1.37:g.10155570C>T	ENSP00000253251:p.Ser88Leu			Missense_Mutation	SNP	ENST00000253251.8	37	CCDS110.1	.	.	.	.	.	.	.	.	.	.	C	36	5.797910	0.96952	.	.	ENSG00000130939	ENST00000253251;ENST00000343090	T;T	0.57595	0.56;0.39	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.66277	0.2773	L	0.43923	1.385	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.70227	0.968;0.947	T	0.63152	-0.6701	10	0.39692	T	0.17	-13.1798	19.3992	0.94621	0.0:1.0:0.0:0.0	.	88;88	O95155;O95155-2	UBE4B_HUMAN;.	L	88	ENSP00000253251:S88L;ENSP00000343001:S88L	ENSP00000253251:S88L	S	+	2	0	UBE4B	10078157	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.445000	0.80570	2.659000	0.90383	0.650000	0.86243	TCG		0.468	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005017.1	NM_006048		T	10155570	C	T	10155570	3	4	734	1	0	0	0	0	1	0	0	0	16888	893	31	1	273	1	UBE4B	1	10155570	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1734367	10155570	239095051	13	41432											
CORT	1325	hgsc.bcm.edu;ucsc.edu	37	1	10510334	10510334	+	Silent	SNP	C	C	T	rs182159138	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:10510334C>T	ENST00000377049.3	+	1	559	c.54C>T	c.(52-54)acC>acT	p.T18T	APITD1_ENST00000602296.1_Intron|APITD1-CORT_ENST00000470413.2_Intron|APITD1-CORT_ENST00000465026.1_Intron|APITD1-CORT_ENST00000400900.2_Intron|CORT_ENST00000320498.4_Silent_p.T68T|APITD1_ENST00000602787.1_Intron	NM_001302.4	NP_001293.3	O00230	CORT_HUMAN	cortistatin	18					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|synaptic transmission (GO:0007268)	extracellular space (GO:0005615)	G-protein coupled receptor binding (GO:0001664)|neuropeptide hormone activity (GO:0005184)			breast(1)|endometrium(1)|stomach(1)	3	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0487)		CCACGGCCACCGCTGCCCTGC	0.677													C|||	2	0.000399361	0.0	0.0029	5008	,	,		15737	0.0		0.0	False		,,,				2504	0.0															0								C	,,	0,4404		0,0,2202	25	26	26		54,,	-7.2	0	1		26	3,8593		0,3,4295	no	coding-synonymous,intron,intron	CORT,APITD1-CORT	NM_001302.4,NM_198544.3,NM_199006.2	,,	0,3,6497	TT,TC,CC		0.0349,0.0,0.0231	,,	18/106,,	10510334	3,12997	2202	4298	6500	SO:0001819	synonymous_variant	1325			AF013252	CCDS117.1, CCDS117.2	1p36.22	2013-02-25			ENSG00000241563	ENSG00000241563		"Endogenous ligands"	2257	protein-coding gene	gene with protein product	"prepro-cortistatin"	602784				9205124	Standard	NM_001302		Approved	MGC32686		O00230	OTTHUMG00000001906	ENST00000377049.3:c.54C>T	1.37:g.10510334C>T			Q5T6G0|Q6UX11	Silent	SNP	ENST00000377049.3	37	CCDS117.2																																																																																				0.677	CORT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005410.3	NM_001302		T	10510334	C	T	10510334	2	4	734	1	0	0	0	0	0	0	0	1	3762	639	23	1		1	CORT	1	10510334	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	354764	10510334	238740287	14	41433											
CASZ1	54897	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	1	10713846	10713846	+	Silent	SNP	G	G	A	rs372443290		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:10713846G>A	ENST00000377022.3	-	11	2585	c.2268C>T	c.(2266-2268)gcC>gcT	p.A756A	RP4-734G22.3_ENST00000606802.1_RNA|CASZ1_ENST00000344008.5_Silent_p.A756A	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	756					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)		CCTCGGTGGCGGCAGTGGCGG	0.682																																																0													32	42	39					1																	10713846		2203	4298	6501	SO:0001819	synonymous_variant	54897			AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"Zinc fingers, C2H2-type"	26002	protein-coding gene	gene with protein product	"zinc finger protein 693", "survival related gene"	609895	"castor homolog 1, zinc finger (Drosophila)"			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.2268C>T	1.37:g.10713846G>A			Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Silent	SNP	ENST00000377022.3	37	CCDS41246.1																																																																																				0.682	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		A	10713846	G	A	10713846	2	1	734	1	0	0	0	0	0	0	0	1	2687	1103	39	1		1	CASZ1	1	10713846	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	203512	10713846	238536775	15	41434											
PRDM2	7799	broad.mit.edu;mdanderson.org	37	1	14107224	14107224	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:14107224G>A	ENST00000235372.7	+	8	3790	c.2934G>A	c.(2932-2934)ccG>ccA	p.P978P	PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000343137.4_Silent_p.P777P|PRDM2_ENST00000413440.1_Silent_p.P777P|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000311066.5_Silent_p.P978P	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	978	Pro-rich.				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)		CCTGTCCCCCGGTATTAACTG	0.612																																																0													126	120	122					1																	14107224		2203	4300	6503	SO:0001819	synonymous_variant	7799			U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"Chromatin-modifying enzymes / K-methyltransferases"	9347	protein-coding gene	gene with protein product	"retinoblastoma protein-binding zinc finger protein", "retinoblastoma protein-interacting zinc finger protein", "MTE-binding protein", "zinc-finger DNA-binding protein", "GATA-3 binding protein G3B"	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.2934G>A	1.37:g.14107224G>A			B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Silent	SNP	ENST00000235372.7	37	CCDS150.1																																																																																				0.612	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		A	14107224	G	A	14107224	2	1	734	1	0	0	0	0	0	0	0	1	12463	1103	39	1		1	PRDM2	1	14107224	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	3393378	14107224	235143397	16	41435											
PLEKHM2	23207	broad.mit.edu;ucsc.edu;mdanderson.org	37	1	16053893	16053893	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:16053893C>T	ENST00000375799.3	+	9	1553	c.1326C>T	c.(1324-1326)ccC>ccT	p.P442P	RP11-288I21.1_ENST00000453804.1_RNA|PLEKHM2_ENST00000375793.2_Silent_p.P422P	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	442					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)		CCGGCTCTCCCGGGGATGCCC	0.627																																																0													7	8	8					1																	16053893		1811	4039	5850	SO:0001819	synonymous_variant	23207			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.1326C>T	1.37:g.16053893C>T			O94928|Q5VT65|Q6NUH9|Q7L8G1|Q8IVT7|Q8N2T4|Q96AY0|Q9NTF7	Silent	SNP	ENST00000375799.3	37	CCDS44063.1																																																																																				0.627	PLEKHM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008463.1	NM_015164		T	16053893	C	T	16053893	2	4	734	1	0	0	0	0	0	0	0	1	12083	639	23	1		1	PLEKHM2	1	16053893	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1946669	16053893	233196728	17	41436											
CROCC	9696	mdanderson.org	37	1	17270751	17270751	+	Silent	SNP	G	G	A	rs12025984	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:17270751G>A	ENST00000375541.5	+	14	2034	c.1965G>A	c.(1963-1965)gcG>gcA	p.A655A	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)		AGGATGGCGCGCGGGTGCGCC	0.711													g|||	1190	0.23762	0.0182	0.3242	5008	,	,		21546	0.4643		0.2495	False		,,,				2504	0.227															0													8	6	7					1																	17270751		2084	4087	6171	SO:0001819	synonymous_variant	9696			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.1965G>A	1.37:g.17270751G>A				Silent	SNP	ENST00000375541.5	37	CCDS30616.1																																																																																				0.711	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		A	17270751	G	A	17270751	2	1	734	1	0	0	0	0	0	0	0	1	3895	1074	38	1		1	CROCC	1	17270751	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1216858	17270751	231979870	18	41437											
PADI4	23569	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	17664602	17664602	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:17664602G>A	ENST00000375448.4	+	5	504	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K	AC004824.2_ENST00000602074.1_Intron	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	160					cellular protein modification process (GO:0006464)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|histone citrullination (GO:0036414)|histone H3-R26 citrullination (GO:0036413)|innate immune response (GO:0045087)|nucleosome assembly (GO:0006334)|protein citrullination (GO:0018101)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginine deiminase activity (GO:0016990)|calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	AGACAATCTCGAATCTTCTGC	0.527																																																0													152	128	136					1																	17664602		2203	4300	6503	SO:0001583	missense	23569			AB017919	CCDS180.1	1p36.13	2014-06-06	2003-02-12		ENSG00000159339	ENSG00000159339	3.5.3.15	"Peptidyl arginine deiminases"	18368	protein-coding gene	gene with protein product		605347	"peptidyl arginine deiminase, type V"	PADI5		10488123	Standard	NM_012387		Approved	PAD, PDI5, PDI4	uc001baj.2	Q9UM07	OTTHUMG00000002371	ENST00000375448.4:c.478G>A	1.37:g.17664602G>A	ENSP00000364597:p.Glu160Lys		A8K392|B2RBW0|Q5VTZ8|Q70SX4	Missense_Mutation	SNP	ENST00000375448.4	37	CCDS180.1	.	.	.	.	.	.	.	.	.	.	g	7.390	0.630670	0.14322	.	.	ENSG00000159339	ENST00000375448	T	0.16597	2.33	5.15	-10.3	0.00346	Protein-arginine deiminase (PAD), central domain (2);	1.431090	0.04168	N	0.324253	T	0.02455	0.0075	N	0.00237	-1.79	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.26538	-1.0100	10	0.09338	T	0.73	0.0019	3.264	0.06859	0.3132:0.3875:0.204:0.0953	.	160;160	A8K392;Q9UM07	.;PADI4_HUMAN	K	160	ENSP00000364597:E160K	ENSP00000364597:E160K	E	+	1	0	PADI4	17537189	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.930000	0.01557	-2.431000	0.00556	-2.173000	0.00322	GAA		0.527	PADI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006799.1	NM_012387		A	17664602	G	A	17664602	3	1	734	1	0	0	0	0	1	0	0	0	11382	1059	37	1	496	1	PADI4	1	17664602	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	393851	17664602	231586019	19	41438											
HTR6	3362	broad.mit.edu;ucsc.edu;mdanderson.org	37	1	20005813	20005813	+	Silent	SNP	C	C	T	rs201218739		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:20005813C>T	ENST00000289753.1	+	3	1742	c.1275C>T	c.(1273-1275)ccC>ccT	p.P425P	TMCO4_ENST00000489814.1_5'Flank	NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	425					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)	ACATCGACCCCGCGGAGCCCG	0.692																																					Esophageal Squamous(168;1879 2619 6848 21062)											0													9	10	9					1																	20005813		1870	3762	5632	SO:0001819	synonymous_variant	3362			L41147	CCDS197.1	1p36-p35	2012-08-08	2012-02-03		ENSG00000158748	ENSG00000158748		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5301	protein-coding gene	gene with protein product		601109	"5-hydroxytryptamine (serotonin) receptor 6"			8522988	Standard	NM_000871		Approved	5-HT6, 5-HT6R	uc001bcl.3	P50406	OTTHUMG00000002713	ENST00000289753.1:c.1275C>T	1.37:g.20005813C>T			Q13640|Q5TGZ1	Silent	SNP	ENST00000289753.1	37	CCDS197.1																																																																																				0.692	HTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007704.1	NM_000871		T	20005813	C	T	20005813	2	4	734	1	0	0	0	0	0	0	0	1	7453	639	23	1		1	HTR6	1	20005813	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	2341211	20005813	229244808	20	41439											
TMCO4	255104	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	20067419	20067419	+	Missense_Mutation	SNP	G	G	A	rs371982006		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:20067419G>A	ENST00000294543.6	-	11	1134	c.893C>T	c.(892-894)cCg>cTg	p.P298L	TMCO4_ENST00000489814.1_5'Flank|TMCO4_ENST00000375127.1_Missense_Mutation_p.P298L|TMCO4_ENST00000375122.2_Missense_Mutation_p.P258L	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	298						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		GGCAGCCCACGGGGCACTGAA	0.617																																																0								G	LEU/PRO	0,4406		0,0,2203	39	35	36		893	5.3	1	1		36	1,8599	1.2+/-3.3	0,1,4299	no	missense	TMCO4	NM_181719.4	98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	298/635	20067419	1,13005	2203	4300	6503	SO:0001583	missense	255104				CCDS198.1	1p36.13	2008-02-05			ENSG00000162542	ENSG00000162542			27393	protein-coding gene	gene with protein product							Standard	NM_181719		Approved	DKFZp686C23231	uc001bcn.3	Q5TGY1	OTTHUMG00000002697	ENST00000294543.6:c.893C>T	1.37:g.20067419G>A	ENSP00000294543:p.Pro298Leu		Q5TGY2|Q6MZN5|Q7Z6K6|Q9UQP4|Q9Y3K1	Missense_Mutation	SNP	ENST00000294543.6	37	CCDS198.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.100784	0.76983	0.0	1.16E-4	ENSG00000162542	ENST00000294543;ENST00000375127;ENST00000375122	T;T;T	0.46063	0.88;0.88;0.88	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.65964	0.2742	M	0.78916	2.43	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.69873	-0.5027	10	0.72032	D	0.01	-13.9474	16.5542	0.84481	0.0:0.0:1.0:0.0	.	298	Q5TGY1	TMCO4_HUMAN	L	298;298;258	ENSP00000294543:P298L;ENSP00000364269:P298L;ENSP00000364264:P258L	ENSP00000294543:P298L	P	-	2	0	TMCO4	19940006	1.000000	0.71417	0.954000	0.39281	0.583000	0.36354	9.114000	0.94329	2.506000	0.84524	0.655000	0.94253	CCG		0.617	TMCO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007658.1	NM_181719		A	20067419	G	A	20067419	3	1	734	1	0	0	0	0	1	0	0	0	16003	1116	39	1	1035	1	TMCO4	1	20067419	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	61606	20067419	229183202	21	41440											
ALPL	249	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	21887145	21887145	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:21887145C>T	ENST00000374840.3	+	3	338	c.88C>T	c.(88-90)Cga>Tga	p.R30*	ALPL_ENST00000425315.2_Nonsense_Mutation_p.R30*|ALPL_ENST00000468526.1_3'UTR|ALPL_ENST00000540617.1_5'UTR|ALPL_ENST00000374832.1_Nonsense_Mutation_p.R30*|ALPL_ENST00000539907.1_5'UTR	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	30					cellular response to organic cyclic compound (GO:0071407)|cementum mineralization (GO:0071529)|developmental process involved in reproduction (GO:0003006)|endochondral ossification (GO:0001958)|osteoblast differentiation (GO:0001649)|response to antibiotic (GO:0046677)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)	anchored component of membrane (GO:0031225)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)|Fospropofol(DB06716)	CAAGTACTGGCGAGACCAAGC	0.517																																																0													92	90	91					1																	21887145		2203	4300	6503	SO:0001587	stop_gained	249			BC021289	CCDS217.1, CCDS53274.1, CCDS53275.1	1p36.12	2008-02-05			ENSG00000162551	ENSG00000162551	3.1.3.1		438	protein-coding gene	gene with protein product		171760		HOPS		3532105, 3446011	Standard	NM_001127501		Approved	TNSALP	uc001bet.3	P05186	OTTHUMG00000002949	ENST00000374840.3:c.88C>T	1.37:g.21887145C>T	ENSP00000363973:p.Arg30*		A1A4E7|B2RMP8|B7Z387|B7Z4Y6|O75090|Q2TAI7|Q59EJ7|Q5BKZ5|Q5VTG5|Q6NZI8|Q8WU32|Q9UBK0	Nonsense_Mutation	SNP	ENST00000374840.3	37	CCDS217.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.522219	0.85600	.	.	ENSG00000162551	ENST00000374840;ENST00000374832;ENST00000425315	.	.	.	5.71	0.99	0.19807	.	0.095596	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-7.7262	14.81	0.69989	0.4959:0.504:0.0:0.0	.	.	.	.	X	30	.	ENSP00000363965:R30X	R	+	1	2	ALPL	21759732	0.969000	0.33509	0.933000	0.37362	0.228000	0.25075	0.388000	0.20735	0.243000	0.21327	-0.314000	0.08810	CGA		0.517	ALPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000008202.1	NM_000478		T	21887145	C	T	21887145	4	4	734	1	0	0	0	0	0	1	0	0	547	760	27	1	94	1	ALPL	1	21887145	Nonsense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1819726	21887145	227363476	22	41441											
EPHA8	2046	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	1	22902937	22902937	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:22902937G>A	ENST00000166244.3	+	3	459	c.387G>A	c.(385-387)tcG>tcA	p.S129S	EPHA8_ENST00000538803.1_Silent_p.S129S|EPHA8_ENST00000374644.4_Silent_p.S129S	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	129	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.S129S(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)		ACCTGGAGTCGGACCGCGACC	0.592																																																2	Substitution - coding silent(2)	upper_aerodigestive_tract(2)											65	61	63					1																	22902937		2203	4300	6503	SO:0001819	synonymous_variant	2046			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.387G>A	1.37:g.22902937G>A			Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Silent	SNP	ENST00000166244.3	37	CCDS225.1																																																																																				0.592	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		A	22902937	G	A	22902937	2	1	734	1	0	0	0	0	0	0	0	1	5175	1103	39	1		1	EPHA8	1	22902937	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1015792	22902937	226347684	23	41442											
SEPN1	57190	broad.mit.edu;bcgsc.ca	37	1	26140634	26140634	+	Missense_Mutation	SNP	G	G	A	rs138259627		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:26140634G>A	ENST00000527604.1	+	2	88	c.88G>A	c.(88-90)Gtg>Atg	p.V30M	SEPN1_ENST00000374315.1_Missense_Mutation_p.V489M|SEPN1_ENST00000494537.1_3'UTR|RP1-317E23.3_ENST00000442055.1_RNA|SEPN1_ENST00000354177.4_Missense_Mutation_p.V489M|SEPN1_ENST00000361547.2_Missense_Mutation_p.V523M																							CAGCTTCCCCGTGGAGATGAT	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		18421	0.001		0.0	False		,,,				2504	0.0															0													75	93	87					1																	26140634		2114	4213	6327	SO:0001583	missense	57190																														ENST00000527604.1:c.88G>A	1.37:g.26140634G>A	ENSP00000457066:p.Val30Met			Missense_Mutation	SNP	ENST00000527604.1	37		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	28.7	4.941056	0.92526	.	.	ENSG00000162430	ENST00000361547;ENST00000354177;ENST00000374315	D;D;D	0.92699	-3.09;-3.07;-3.06	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.95611	0.8573	M	0.67953	2.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.95888	0.8904	10	0.87932	D	0	-32.1731	18.5754	0.91153	0.0:0.0:1.0:0.0	.	489;523	Q9NZV5-2;Q9NZV5	.;SELN_HUMAN	M	523;489;489	ENSP00000355141:V523M;ENSP00000346109:V489M;ENSP00000363434:V489M	ENSP00000432311:V30M	V	+	1	0	SEPN1	26013221	1.000000	0.71417	0.992000	0.48379	0.950000	0.60333	9.657000	0.98554	2.630000	0.89119	0.561000	0.74099	GTG		0.647	RP1-317E23.6-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000393345.1			A	26140634	G	A	26140634	3	1	734	1	0	0	0	0	1	0	0	0	14062	1145	40	1	1613	1	SEPN1	1	26140634	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	3237697	26140634	223109987	24	41443											
SERINC2	347735	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	31899552	31899552	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:31899552C>T	ENST00000373709.3	+	6	812	c.662C>T	c.(661-663)gCg>gTg	p.A221V	SERINC2_ENST00000491976.1_3'UTR|SERINC2_ENST00000536859.1_Missense_Mutation_p.A225V|SERINC2_ENST00000373710.1_Missense_Mutation_p.A230V|SERINC2_ENST00000536384.1_Missense_Mutation_p.A225V	NM_178865.4	NP_849196.2	Q96SA4	SERC2_HUMAN	serine incorporator 2	221					phosphatidylserine metabolic process (GO:0006658)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	L-serine transmembrane transporter activity (GO:0015194)			cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		GCGGCCGTGGCGCTGATGTTC	0.597																																																0													209	183	192					1																	31899552		2203	4300	6503	SO:0001583	missense	347735			AY094595	CCDS30662.1, CCDS55583.1, CCDS55584.1, CCDS55585.1	1p35.1	2008-02-05	2005-11-01	2005-11-01	ENSG00000168528	ENSG00000168528			23231	protein-coding gene	gene with protein product		614549	"tumor differentially expressed 2-like"	TDE2L		12949800	Standard	NM_178865		Approved	FKSG84, PRO0899, TDE2	uc010ogh.2	Q96SA4	OTTHUMG00000003796	ENST00000373709.3:c.662C>T	1.37:g.31899552C>T	ENSP00000362813:p.Ala221Val		A0AVB4|B4DJK5|B7Z567|B7ZAP2|E7EUZ9|Q86Y23	Missense_Mutation	SNP	ENST00000373709.3	37	CCDS30662.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.741064	0.00675	.	.	ENSG00000168528	ENST00000373710;ENST00000536859;ENST00000373709;ENST00000536384	T;T;T;T	0.11277	2.79;2.79;2.79;2.79	4.99	-0.359	0.12571	.	0.733403	0.13725	N	0.367136	T	0.04182	0.0116	N	0.04805	-0.155	0.09310	N	1	B;B;B	0.14012	0.0;0.004;0.009	B;B;B	0.09377	0.0;0.004;0.003	T	0.43376	-0.9395	10	0.02654	T	1	-1.0421	11.9824	0.53127	0.0:0.5352:0.0:0.4648	.	225;230;221	B4DJK5;E7EUZ9;Q96SA4	.;.;SERC2_HUMAN	V	230;225;221;225	ENSP00000362814:A230V;ENSP00000444307:A225V;ENSP00000362813:A221V;ENSP00000439048:A225V	ENSP00000362813:A221V	A	+	2	0	SERINC2	31672139	0.009000	0.17119	0.000000	0.03702	0.247000	0.25773	0.477000	0.22196	-0.468000	0.06922	-1.267000	0.01435	GCG		0.597	SERINC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010680.1	NM_018565		T	31899552	C	T	31899552	3	4	734	1	0	0	0	0	1	0	0	0	14086	768	27	1	684	1	SERINC2	1	31899552	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	5758918	31899552	217351069	25	41444											
BAI2	576	broad.mit.edu	37	1	32222290	32222290	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:32222290C>T	ENST00000373658.3	-	4	489	c.148G>A	c.(148-150)Ggg>Agg	p.G50R	BAI2_ENST00000398542.1_Missense_Mutation_p.G38R|BAI2_ENST00000398556.3_Missense_Mutation_p.G53R|MIR4254_ENST00000581063.1_RNA|BAI2_ENST00000398547.1_Missense_Mutation_p.G38R|BAI2_ENST00000257070.4_Missense_Mutation_p.G50R|BAI2_ENST00000373655.2_Missense_Mutation_p.G50R|BAI2_ENST00000398538.1_Missense_Mutation_p.G38R|BAI2_ENST00000527361.1_Missense_Mutation_p.G50R	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	50					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GAGAAGGCCCCGTAGAGCACA	0.652																																																0													43	44	43					1																	32222290		2201	4298	6499	SO:0001583	missense	576			AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"-", "GPCR / Class B : Orphans"	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.148G>A	1.37:g.32222290C>T	ENSP00000362762:p.Gly50Arg		B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	ENST00000373658.3	37	CCDS346.2	.	.	.	.	.	.	.	.	.	.	C	27.9	4.873768	0.91664	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000398538;ENST00000420125;ENST00000533175	T;T;T;T;T;T;T;T;T;T	0.80033	-0.9;-0.65;-1.32;-1.33;-0.43;-1.32;-1.32;-1.19;-0.93;-0.79	5.22	5.22	0.72569	.	0.000000	0.43747	D	0.000525	D	0.88243	0.6384	L	0.57536	1.79	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D	0.97110	0.998;1.0;0.996;0.958;0.999;0.994	D	0.89093	0.3484	10	0.87932	D	0	.	17.9359	0.89012	0.0:1.0:0.0:0.0	.	38;50;38;38;50;50	A2A3C3;O60241-4;O60241-3;A2A3C1;O60241-2;O60241	.;.;.;.;.;BAI2_HUMAN	R	53;38;50;50;38;50;50;38;43;84	ENSP00000381564:G53R;ENSP00000381555:G38R;ENSP00000362762:G50R;ENSP00000362759:G50R;ENSP00000381550:G38R;ENSP00000257070:G50R;ENSP00000435397:G50R;ENSP00000381548:G38R;ENSP00000410921:G43R;ENSP00000437219:G84R	ENSP00000257070:G50R	G	-	1	0	BAI2	31994877	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.453000	0.80700	2.608000	0.88229	0.462000	0.41574	GGG		0.652	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703		T	32222290	C	T	32222290	3	4	734	1	0	0	0	0	1	0	0	0	1299	652	23	1	4729	1	BAI2	1	32222290	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	322738	32222290	217028331	26	41445											
CCDC28B	79140	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	32667610	32667610	+	Missense_Mutation	SNP	G	G	A	rs371310338		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:32667610G>A	ENST00000373602.5	+	2	421	c.74G>A	c.(73-75)cGg>cAg	p.R25Q	RP4-622L5.7_ENST00000373604.4_RNA|CCDC28B_ENST00000483009.1_3'UTR|CCDC28B_ENST00000421922.2_Missense_Mutation_p.R25Q	NM_024296.3	NP_077272.2	Q9BUN5	CC28B_HUMAN	coiled-coil domain containing 28B	25			R -> W (in dbSNP:rs1407134).		cilium assembly (GO:0042384)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GGCACACTACGGAGGGTCCCT	0.637																																																0								G	GLN/ARG	0,4406		0,0,2203	43	51	49		74	5.4	0.8	1		49	1,8599	1.2+/-3.3	0,1,4299	no	missense	CCDC28B	NM_024296.3	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	25/201	32667610	1,13005	2203	4300	6503	SO:0001583	missense	79140			BC022848	CCDS354.2, CCDS72749.1	1p36.11-p34.2	2008-02-05			ENSG00000160050	ENSG00000160050			28163	protein-coding gene	gene with protein product		610162				16327777	Standard	XM_006710892		Approved	MGC1203, RP4-622L5.5	uc001bul.1	Q9BUN5	OTTHUMG00000005738	ENST00000373602.5:c.74G>A	1.37:g.32667610G>A	ENSP00000362704:p.Arg25Gln		A8K789|Q8TBV8	Missense_Mutation	SNP	ENST00000373602.5	37	CCDS354.2	.	.	.	.	.	.	.	.	.	.	G	34	5.322060	0.95708	0.0	1.16E-4	ENSG00000160050	ENST00000373602;ENST00000421922	T;T	0.54866	0.64;0.55	5.39	5.39	0.77823	.	0.115026	0.64402	D	0.000020	T	0.58047	0.2095	L	0.55481	1.735	0.40176	D	0.97723	D;D	0.76494	0.96;0.999	B;P	0.56751	0.238;0.805	T	0.58411	-0.7641	10	0.40728	T	0.16	-1.0299	8.1332	0.31039	0.084:0.1605:0.7555:0.0	.	25;25	Q9BUN5;E9PM81	CC28B_HUMAN;.	Q	25	ENSP00000362704:R25Q;ENSP00000413017:R25Q	ENSP00000362704:R25Q	R	+	2	0	CCDC28B	32440197	1.000000	0.71417	0.838000	0.33150	0.981000	0.71138	6.802000	0.75175	2.704000	0.92352	0.655000	0.94253	CGG		0.637	CCDC28B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015723.4	NM_024296		A	32667610	G	A	32667610	3	1	734	1	0	0	0	0	1	0	0	0	2805	1116	39	1	76	1	CCDC28B	1	32667610	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	445320	32667610	216583011	27	41446											
AK2	204	mdanderson.org	37	1	33478959	33478959	+	Missense_Mutation	SNP	C	C	G	rs72884305		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:33478959C>G	ENST00000373449.2	-	6	584	c.543G>C	c.(541-543)aaG>aaC	p.K181N	RP1-117O3.2_ENST00000427524.1_RNA|AK2_ENST00000491241.1_5'Flank|AK2_ENST00000548033.1_Missense_Mutation_p.K139N|AK2_ENST00000467905.1_Missense_Mutation_p.K181N|AK2_ENST00000354858.6_Missense_Mutation_p.K181N|AK2_ENST00000480134.1_3'UTR	NM_001199199.1|NM_013411.4	NP_001186128.1|NP_037543.1			adenylate kinase 2											kidney(1)|large_intestine(2)|lung(4)|skin(1)	8		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				TTTTCAAGGCCTTTTCATTAT	0.498																																																0													90	84	86					1																	33478959		2203	4300	6503	SO:0001583	missense	204			U84371	CCDS373.1, CCDS374.1	1p35.1	2014-09-17			ENSG00000004455	ENSG00000004455	2.7.4.3	"Adenylate kinases"	362	protein-coding gene	gene with protein product		103020				8843353, 6961883	Standard	NM_013411		Approved		uc001bwp.2	P54819	OTTHUMG00000004131	ENST00000373449.2:c.543G>C	1.37:g.33478959C>G	ENSP00000362548:p.Lys181Asn			Missense_Mutation	SNP	ENST00000373449.2	37	CCDS373.1	579	0.2651098901098901	166	0.33739837398373984	101	0.27900552486187846	109	0.19055944055944055	203	0.2678100263852243	C	13.25	2.182376	0.38511	.	.	ENSG00000004455	ENST00000373449;ENST00000548033;ENST00000467905;ENST00000354858	T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03	5.17	1.5	0.22942	.	0.199168	0.50627	D	0.000117	T	0.00012	0.0000	N	0.03071	-0.42	0.80722	D	1	B;B;B;B	0.27416	0.026;0.178;0.108;0.026	B;B;B;B	0.25506	0.022;0.045;0.061;0.022	T	0.34875	-0.9811	10	0.87932	D	0	-26.0335	6.3424	0.21330	0.0:0.4499:0.1246:0.4255	.	173;139;181;181	P54819-5;F8VY04;P54819;P54819-2	.;.;KAD2_HUMAN;.	N	181;139;181;181	ENSP00000362548:K181N;ENSP00000449003:K139N;ENSP00000447082:K181N;ENSP00000346921:K181N	ENSP00000346921:K181N	K	-	3	2	AK2	33251546	0.171000	0.23029	1.000000	0.80357	0.989000	0.77384	-0.404000	0.07205	0.148000	0.19059	0.563000	0.77884	AAG		0.498	AK2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011884.1	NM_001625		G	33478959	C	G	33478959	3	3	734	1	0	0	0	0	1	0	0	0	440	680	24	4	189	4	AK2	1	33478959	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	811349	33478959	215771662	28	41447											
NCDN	23154	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	1	36028957	36028957	+	Missense_Mutation	SNP	G	G	A	rs571289950		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:36028957G>A	ENST00000373243.2	+	5	1923	c.1540G>A	c.(1540-1542)Gtg>Atg	p.V514M	NCDN_ENST00000356090.4_Missense_Mutation_p.V514M|NCDN_ENST00000373253.3_Missense_Mutation_p.V497M	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	514					bone resorption (GO:0045453)|neuron projection development (GO:0031175)|regulation of neuronal synaptic plasticity (GO:0048168)	cytosol (GO:0005829)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GCCTGACAGCGTGGAGATTGG	0.627																																																0													104	101	102					1																	36028957		2203	4300	6503	SO:0001583	missense	23154			AB011179	CCDS392.1, CCDS30672.1	1p34.3	2008-02-05			ENSG00000020129	ENSG00000020129			17597	protein-coding gene	gene with protein product		608458				15007648	Standard	NM_014284		Approved	NCDN-1, NCDN-2	uc001bza.3	Q9UBB6	OTTHUMG00000059204	ENST00000373243.2:c.1540G>A	1.37:g.36028957G>A	ENSP00000362340:p.Val514Met		D3DPR9|Q9UBY2|Q9Y4A6|Q9Y4D9	Missense_Mutation	SNP	ENST00000373243.2	37	CCDS392.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.768116	0.69878	.	.	ENSG00000020129	ENST00000373253;ENST00000356090;ENST00000373243	.	.	.	4.71	4.71	0.59529	.	0.301676	0.31922	N	0.006852	T	0.36413	0.0966	N	0.22421	0.69	0.30719	N	0.748488	D	0.67145	0.996	P	0.50082	0.63	T	0.41466	-0.9507	9	0.72032	D	0.01	.	10.2947	0.43616	0.1028:0.0:0.8972:0.0	.	514	Q9UBB6	NCDN_HUMAN	M	497;514;514	.	ENSP00000348394:V514M	V	+	1	0	NCDN	35801544	0.995000	0.38212	0.991000	0.47740	0.996000	0.88848	2.410000	0.44592	2.157000	0.67596	0.462000	0.41574	GTG		0.627	NCDN-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131298.1	NM_014284		A	36028957	G	A	36028957	3	1	734	1	0	0	0	0	1	0	0	0	10216	1145	40	1	1558	1	NCDN	1	36028957	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	2549998	36028957	213221664	29	41448											
EIF2C3	192669	broad.mit.edu;bcgsc.ca	37	1	36479606	36479606	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:36479606G>A	ENST00000373191.4	+	11	1712	c.1363G>A	c.(1363-1365)Gct>Act	p.A455T	RP4-665N4.8_ENST00000479395.2_RNA|AGO3_ENST00000246314.6_Missense_Mutation_p.A221T|RP4-665N4.8_ENST00000466576.2_RNA	NM_024852.3	NP_079128.2	Q9H9G7	AGO3_HUMAN	argonaute RISC catalytic component 3	455					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of stem cell proliferation (GO:0072091)	cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)										GTGGGCTATCGCTTGTTTTGC	0.433																																																0													161	152	155					1																	36479606		2203	4300	6503	SO:0001583	missense	192669			AB046787	CCDS399.1, CCDS400.1	1p34	2013-06-03	2013-02-15	2013-02-15	ENSG00000126070	ENSG00000126070		"Argonaute/PIWI family"	18421	protein-coding gene	gene with protein product	"argonaute 3"	607355	"eukaryotic translation initiation factor 2C, 3"	EIF2C3		12906857	Standard	NM_024852		Approved	hAGO3, FLJ12765	uc001bzp.3	Q9H9G7	OTTHUMG00000184172	ENST00000373191.4:c.1363G>A	1.37:g.36479606G>A	ENSP00000362287:p.Ala455Thr		B1ALI0|Q5TA55|Q9H1U6	Missense_Mutation	SNP	ENST00000373191.4	37	CCDS399.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.602398	0.87157	.	.	ENSG00000126070	ENST00000373191;ENST00000246314	T;T	0.05786	3.39;3.39	5.65	5.65	0.86999	.	0.048504	0.85682	D	0.000000	T	0.20007	0.0481	M	0.91354	3.2	0.80722	D	1	B	0.26258	0.145	B	0.29440	0.102	T	0.04708	-1.0932	10	0.87932	D	0	-17.7659	19.7916	0.96461	0.0:0.0:1.0:0.0	.	455	Q9H9G7	AGO3_HUMAN	T	455;221	ENSP00000362287:A455T;ENSP00000246314:A221T	ENSP00000246314:A221T	A	+	1	0	EIF2C3	36252193	1.000000	0.71417	0.987000	0.45799	0.859000	0.49053	9.858000	0.99539	2.685000	0.91497	0.650000	0.86243	GCT		0.433	AGO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019831.4	NM_024852		A	36479606	G	A	36479606	3	1	734	1	0	0	0	0	1	0	0	0	5009	1087	38	1	1405	1	EIF2C3	1	36479606	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	450649	36479606	212771015	30	41449											
EPHA10	284656	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	1	38227629	38227629	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:38227629G>A	ENST00000373048.4	-	3	297	c.298C>T	c.(298-300)Cgc>Tgc	p.R100C	EPHA10_ENST00000427468.2_Missense_Mutation_p.R100C|EPHA10_ENST00000319637.6_Missense_Mutation_p.R100C	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	100	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				ACGAAGATGCGCTGCCCGCGG	0.607																																																0													91	85	87					1																	38227629		2203	4300	6503	SO:0001583	missense	284656			AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.298C>T	1.37:g.38227629G>A	ENSP00000362139:p.Arg100Cys		A4FU89|J3KPB5|Q6NW42	Missense_Mutation	SNP	ENST00000373048.4	37	CCDS41305.1	.	.	.	.	.	.	.	.	.	.	G	19.63	3.863579	0.71949	.	.	ENSG00000183317	ENST00000427468;ENST00000373048;ENST00000319637	T;T;T	0.06768	3.26;3.26;3.26	4.47	3.47	0.39725	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.40728	N	0.001040	T	0.34919	0.0914	M	0.92026	3.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.43766	-0.9371	10	0.87932	D	0	.	13.4895	0.61386	0.0:0.0:0.7792:0.2208	.	100;100	Q5JZY3;Q5JZY3-2	EPHAA_HUMAN;.	C	100	ENSP00000397746:R100C;ENSP00000362139:R100C;ENSP00000316395:R100C	ENSP00000316395:R100C	R	-	1	0	EPHA10	38000216	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	0.937000	0.28951	2.448000	0.82819	0.549000	0.68633	CGC		0.607	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641		A	38227629	G	A	38227629	3	1	734	1	0	0	0	0	1	0	0	0	5168	1087	38	1	2826	1	EPHA10	1	38227629	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1748023	38227629	211022992	31	41450											
INPP5B	3633	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	38345781	38345781	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:38345781G>A	ENST00000373026.1	-	14	1757	c.1757C>T	c.(1756-1758)aCg>aTg	p.T586M	INPP5B_ENST00000373027.1_Missense_Mutation_p.T342M|INPP5B_ENST00000458109.2_3'UTR|INPP5B_ENST00000373023.2_Missense_Mutation_p.T586M|INPP5B_ENST00000373024.3_Missense_Mutation_p.T506M			P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	586	5-phosphatase. {ECO:0000250}.				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)				GTCAGAGCCCGTATCATACTT	0.483																																																0													109	105	106					1																	38345781		1855	4100	5955	SO:0001583	missense	3633			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.1757C>T	1.37:g.38345781G>A	ENSP00000362117:p.Thr586Met		C9J6U5|Q5VSG9|Q5VSH0|Q5VSH1|Q658Q5|Q6P6D4|Q6PD53|Q86YE1	Missense_Mutation	SNP	ENST00000373026.1	37		.	.	.	.	.	.	.	.	.	.	G	29.6	5.019861	0.93462	.	.	ENSG00000204084	ENST00000373027;ENST00000373023;ENST00000373029;ENST00000373026;ENST00000373024	T;T;T;T	0.80480	-1.38;-1.38;-1.38;-1.38	5.83	5.83	0.93111	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.093070	0.85682	D	0.000000	D	0.86087	0.5849	L	0.41356	1.27	0.80722	D	1	D;D	0.89917	1.0;1.0	D;P	0.68353	0.957;0.842	D	0.84515	0.0624	10	0.41790	T	0.15	.	20.1184	0.97949	0.0:0.0:1.0:0.0	.	586;506	P32019;P32019-2	I5P2_HUMAN;.	M	342;586;586;586;506	ENSP00000362118:T342M;ENSP00000362114:T586M;ENSP00000362117:T586M;ENSP00000362115:T506M	ENSP00000362114:T586M	T	-	2	0	INPP5B	38118368	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	9.637000	0.98443	2.769000	0.95229	0.655000	0.94253	ACG		0.483	INPP5B-003	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000012968.1	NM_005540		A	38345781	G	A	38345781	3	1	734	1	0	0	0	0	1	0	0	0	7757	1145	40	1	1264	1	INPP5B	1	38345781	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	118152	38345781	210904840	32	41451											
MACF1	23499	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	1	39951259	39951259	+	Silent	SNP	C	C	T	rs201356281		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:39951259C>T	ENST00000372915.3	+	97	22047	c.21960C>T	c.(21958-21960)gcC>gcT	p.A7320A	MACF1_ENST00000539005.1_Silent_p.A5232A|MACF1_ENST00000289893.4_Silent_p.A5870A|MACF1_ENST00000545844.1_Silent_p.A5362A|MACF1_ENST00000564288.1_Silent_p.A7487A|MACF1_ENST00000567887.1_Silent_p.A7524A|MACF1_ENST00000317713.7_Silent_p.A5362A|MACF1_ENST00000361689.2_Silent_p.A5362A			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7320	4 X 4 AA tandem repeats of [GS]-S-R-[AR].|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)			ggagtcgagccgggagtcgag	0.552																																																0													38	44	42					1																	39951259		2203	4300	6503	SO:0001819	synonymous_variant	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.21960C>T	1.37:g.39951259C>T			B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.254|4.254	0.046072|0.046072	0.08243|0.08243	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000360115;ENST00000442046|ENST00000372925;ENST00000446276	.|.	.|.	.|.	5.28|5.28	-5.68|-5.68	0.02436|0.02436	.|.	.|.	.|.	.|.	.|.	T|T	0.38532|0.38532	0.1044|0.1044	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.39643|0.39643	-0.9604|-0.9604	4|4	.|.	.|.	.|.	.|.	3.3677|3.3677	0.07210|0.07210	0.093:0.2728:0.1651:0.4691|0.093:0.2728:0.1651:0.4691	.|.	.|.	.|.	.|.	L|W	475;300|4366;387	.|.	.|.	P|R	+|+	2|1	0|2	MACF1|MACF1	39723846|39723846	0.000000|0.000000	0.05858|0.05858	0.842000|0.842000	0.33263|0.33263	0.980000|0.980000	0.70556|0.70556	-4.901000|-4.901000	0.00172|0.00172	-0.904000|-0.904000	0.03876|0.03876	-0.786000|-0.786000	0.03341|0.03341	CCG|CGG		0.552	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		T	39951259	C	T	39951259	2	4	734	1	0	0	0	0	0	0	0	1	9146	639	23	1		1	MACF1	1	39951259	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1605478	39951259	209299362	33	41452											
NT5C1A	84618	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	40125029	40125029	+	Missense_Mutation	SNP	G	G	A	rs539519081		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:40125029G>A	ENST00000235628.1	-	6	870	c.871C>T	c.(871-873)Cgg>Tgg	p.R291W		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	291					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)			TTGAGAGCCCGGGCCCCGGAA	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		17606	0.0		0.0	False		,,,				2504	0.001															0													47	57	54					1																	40125029		2203	4300	6503	SO:0001583	missense	84618			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.871C>T	1.37:g.40125029G>A	ENSP00000235628:p.Arg291Trp		Q3SYB9|Q5TG98|Q9BWT8	Missense_Mutation	SNP	ENST00000235628.1	37	CCDS440.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.764523	0.89932	.	.	ENSG00000116981	ENST00000235628	.	.	.	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.89750	0.6805	H	0.96111	3.77	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92744	0.6210	9	0.87932	D	0	-0.3811	19.2474	0.93908	0.0:0.0:1.0:0.0	.	291	Q9BXI3	5NT1A_HUMAN	W	291	.	ENSP00000235628:R291W	R	-	1	2	NT5C1A	39897616	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.641000	0.74324	2.624000	0.88883	0.655000	0.94253	CGG		0.612	NT5C1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025626.1	NM_032526		A	40125029	G	A	40125029	3	1	734	1	0	0	0	0	1	0	0	0	10687	1115	39	1	239	1	NT5C1A	1	40125029	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	173770	40125029	209125592	34	41453											
HIVEP3	59269	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	42047504	42047504	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:42047504G>A	ENST00000372583.1	-	4	3850	c.2965C>T	c.(2965-2967)Cgg>Tgg	p.R989W	HIVEP3_ENST00000372584.1_Missense_Mutation_p.R989W|HIVEP3_ENST00000247584.5_Missense_Mutation_p.R989W|HIVEP3_ENST00000429157.2_Missense_Mutation_p.R989W|HIVEP3_ENST00000460604.1_5'Flank	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	989	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)				GCTGACCTCCGCATCTCTCGG	0.602																																																0													77	79	79					1																	42047504		2203	4300	6503	SO:0001583	missense	59269			AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"Zinc fingers, C2H2-type"	13561	protein-coding gene	gene with protein product	"kappabinding protein-1"	606649	"human immunodeficiency virus type I enhancer-binding protein 3"			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.2965C>T	1.37:g.42047504G>A	ENSP00000361664:p.Arg989Trp		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	CCDS463.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.295201	0.60086	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.26223	1.75;1.75;1.75;1.75	5.01	4.07	0.47477	.	0.000000	0.45361	D	0.000372	T	0.49457	0.1558	M	0.76727	2.345	0.47584	D	0.99946	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.53585	-0.8418	10	0.87932	D	0	-0.5425	12.1102	0.53836	0.0:0.0:0.6775:0.3224	.	989;989	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	W	989	ENSP00000361665:R989W;ENSP00000361664:R989W;ENSP00000247584:R989W;ENSP00000410828:R989W	ENSP00000247584:R989W	R	-	1	2	HIVEP3	41820091	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	2.834000	0.48167	1.271000	0.44313	0.462000	0.41574	CGG		0.602	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		A	42047504	G	A	42047504	3	1	734	1	0	0	0	0	1	0	0	0	7190	1086	38	1	4279	1	HIVEP3	1	42047504	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1922475	42047504	207203117	35	41454											
GUCA2B	2981	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	42620453	42620453	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:42620453G>A	ENST00000372581.1	+	2	223	c.193G>A	c.(193-195)Gcc>Acc	p.A65T		NM_007102.2	NP_009033.1	Q16661	GUC2B_HUMAN	guanylate cyclase activator 2B (uroguanylin)	65					body fluid secretion (GO:0007589)|cGMP biosynthetic process (GO:0006182)|excretion (GO:0007588)|negative regulation of blood pressure (GO:0045776)|positive regulation of guanylate cyclase activity (GO:0031284)	extracellular vesicular exosome (GO:0070062)	calcium sensitive guanylate cyclase activator activity (GO:0008048)			breast(1)|large_intestine(2)	3	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCTCCTGCCCGCCGTGTGCCA	0.657																																																0													47	48	47					1																	42620453		2203	4300	6503	SO:0001583	missense	2981			BC069301	CCDS464.1	1p34-p33	2014-01-30			ENSG00000044012	ENSG00000044012		"Endogenous ligands"	4683	protein-coding gene	gene with protein product	"prepro-uroguanylin"	601271				8605041, 9268639	Standard	NM_007102		Approved		uc001chc.1	Q16661	OTTHUMG00000007024	ENST00000372581.1:c.193G>A	1.37:g.42620453G>A	ENSP00000361662:p.Ala65Thr		Q52LV0	Missense_Mutation	SNP	ENST00000372581.1	37	CCDS464.1	.	.	.	.	.	.	.	.	.	.	g	5.429	0.264302	0.10294	.	.	ENSG00000044012	ENST00000372581	T	0.42900	0.96	4.83	-9.66	0.00534	.	1.074620	0.07201	N	0.857413	T	0.18509	0.0444	L	0.36672	1.1	0.09310	N	1	B	0.34313	0.448	B	0.25987	0.065	T	0.06427	-1.0827	10	0.13470	T	0.59	-0.6155	2.8913	0.05677	0.208:0.0771:0.2167:0.4983	.	65	Q16661	GUC2B_HUMAN	T	65	ENSP00000361662:A65T	ENSP00000361662:A65T	A	+	1	0	GUCA2B	42393040	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-4.184000	0.00278	-2.211000	0.00737	-0.974000	0.02594	GCC		0.657	GUCA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000018307.1	NM_007102		A	42620453	G	A	42620453	3	1	734	1	0	0	0	0	1	0	0	0	6894	1087	38	1	199	1	GUCA2B	1	42620453	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	572949	42620453	206630168	36	41455											
KIAA0467	23334	broad.mit.edu	37	1	43896377	43896377	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:43896377C>T	ENST00000562955.1	+	31	4520	c.4520C>T	c.(4519-4521)cCg>cTg	p.P1507L	SZT2_ENST00000372442.1_Missense_Mutation_p.P665L	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1564					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						GACCTGCCACCGCTCTTCCTG	0.597																																																0													133	138	137					1																	43896377		2203	4300	6503	SO:0001583	missense	23334			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.4520C>T	1.37:g.43896377C>T	ENSP00000457168:p.Pro1507Leu		A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	C	22.0	4.227283	0.79576	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.77579	0.4151	L	0.54323	1.7	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.78086	-0.2341	9	0.87932	D	0	.	20.04	0.97581	0.0:1.0:0.0:0.0	.	1507	Q5T011-5	.	L	665	.	ENSP00000361519:P665L	P	+	2	0	SZT2	43668964	1.000000	0.71417	0.904000	0.35570	0.859000	0.49053	7.314000	0.78988	2.733000	0.93635	0.655000	0.94253	CCG		0.597	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		T	43896377	C	T	43896377	3	4	734	1	0	0	0	0	1	0	0	0	8180	652	23	1	2052	1	KIAA0467	1	43896377	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1275924	43896377	205354244	37	41456											
ST3GAL3	6487	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	1	44303969	44303969	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:44303969G>A	ENST00000361392.4	+	5	465	c.288G>A	c.(286-288)acG>acA	p.T96T	ST3GAL3_ENST00000372366.1_Silent_p.T95T|ST3GAL3_ENST00000528371.1_Silent_p.T80T|ST3GAL3_ENST00000262915.3_Silent_p.T165T|ST3GAL3_ENST00000531993.1_Silent_p.T80T|ST3GAL3_ENST00000332628.6_Intron|ST3GAL3_ENST00000361746.4_Silent_p.T165T|ST3GAL3_ENST00000361400.4_Silent_p.T80T|ST3GAL3_ENST00000531451.1_Silent_p.T80T|ST3GAL3_ENST00000372362.2_Silent_p.T96T|ST3GAL3_ENST00000330208.2_Silent_p.T96T|ST3GAL3_ENST00000372372.2_Silent_p.T134T|ST3GAL3_ENST00000372369.1_Silent_p.T96T|ST3GAL3_ENST00000372374.2_Intron|ST3GAL3_ENST00000531816.1_Silent_p.T80T|ST3GAL3_ENST00000545417.1_Silent_p.T111T|ST3GAL3_ENST00000372375.2_Silent_p.T150T|ST3GAL3_ENST00000361812.4_Silent_p.T111T|ST3GAL3_ENST00000372365.1_Silent_p.T96T|ST3GAL3_ENST00000461375.1_3'UTR|ST3GAL3_ENST00000533933.1_Silent_p.T96T|ST3GAL3_ENST00000335430.6_Silent_p.T80T|ST3GAL3_ENST00000372377.4_Silent_p.T96T|ST3GAL3_ENST00000372367.1_Silent_p.T95T|ST3GAL3_ENST00000353126.3_Silent_p.T96T|ST3GAL3_ENST00000351035.3_Silent_p.T134T|ST3GAL3_ENST00000372368.2_Silent_p.T150T|ST3GAL3_ENST00000347631.2_Silent_p.T111T	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	96					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)				CCTTGATGACGGCCATCTTCC	0.542																																																0													184	168	173					1																	44303969		2203	4300	6503	SO:0001819	synonymous_variant	6487			L23768	CCDS492.1, CCDS493.1, CCDS494.1, CCDS495.1, CCDS496.1, CCDS497.1, CCDS498.1, CCDS499.1, CCDS500.1, CCDS53310.1, CCDS57988.1, CCDS57989.1, CCDS57990.1, CCDS57991.1, CCDS57992.1, CCDS57993.1, CCDS57994.1	1p34.1	2014-01-31	2005-02-07	2005-02-07	ENSG00000126091	ENSG00000126091	2.4.99.6	"Sialyltransferases"	10866	protein-coding gene	gene with protein product	"ST3Gal III"	606494	"sialyltransferase 6 (N-acetyllacosaminide alpha 2,3-sialyltransferase)", "mental retardation, non-syndromic, autosomal recessive, 12"	SIAT6, MRT12		8333853, 21907012	Standard	NM_174963		Approved		uc001cjz.4	Q11203	OTTHUMG00000007561	ENST00000361392.4:c.288G>A	1.37:g.44303969G>A			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	Silent	SNP	ENST00000361392.4	37	CCDS492.1																																																																																				0.542	ST3GAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019964.1	NM_174963		A	44303969	G	A	44303969	2	1	734	1	0	0	0	0	0	0	0	1	15221	1103	39	1		1	ST3GAL3	1	44303969	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	407592	44303969	204946652	38	41457											
MAST2	23139	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	46493480	46493480	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:46493480C>T	ENST00000361297.2	+	17	2280	c.1997C>T	c.(1996-1998)aCg>aTg	p.T666M	MAST2_ENST00000372009.2_Missense_Mutation_p.T596M	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)					AGTCTGACAACGAACTTGTAT	0.458																																																0													115	113	113					1																	46493480		1908	4135	6043	SO:0001583	missense	23139			AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.1997C>T	1.37:g.46493480C>T	ENSP00000354671:p.Thr666Met			Missense_Mutation	SNP	ENST00000361297.2	37	CCDS41326.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.134446	0.77662	.	.	ENSG00000086015	ENST00000361297;ENST00000372009;ENST00000432341;ENST00000372008	T;T;T	0.68624	-0.3;-0.26;-0.34	5.41	5.41	0.78517	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.053664	0.64402	D	0.000001	T	0.78181	0.4243	L	0.43554	1.36	0.80722	D	1	D;D;D;D	0.89917	1.0;0.995;1.0;1.0	D;P;D;D	0.91635	0.996;0.906;0.999;0.999	T	0.79443	-0.1801	10	0.87932	D	0	-13.9027	19.5867	0.95492	0.0:1.0:0.0:0.0	.	596;340;596;666	Q6P0Q8-2;E7EWL1;E7ERL6;Q6P0Q8	.;.;.;MAST2_HUMAN	M	666;596;340;551	ENSP00000354671:T666M;ENSP00000361079:T596M;ENSP00000361078:T551M	ENSP00000354671:T666M	T	+	2	0	MAST2	46266067	1.000000	0.71417	0.993000	0.49108	0.426000	0.31534	7.818000	0.86416	2.712000	0.92718	0.561000	0.74099	ACG		0.458	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112		T	46493480	C	T	46493480	3	4	734	1	0	0	0	0	1	0	0	0	9327	536	19	1	2063	1	MAST2	1	46493480	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	2189511	46493480	202757141	39	41458											
MOBKL2C	148932	broad.mit.edu;hgsc.bcm.edu	37	1	47078805	47078805	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:47078805G>A	ENST00000319928.3	-	2	419	c.189C>T	c.(187-189)caC>caT	p.H63H	MKNK1_ENST00000545730.1_Intron|MOB3C_ENST00000371940.1_Silent_p.H86H|MOB3C_ENST00000477318.1_5'UTR|MOB3C_ENST00000271139.8_Silent_p.H115H	NM_201403.2	NP_958805.1	Q70IA8	MOB3C_HUMAN	MOB kinase activator 3C	63							metal ion binding (GO:0046872)										AGTCCACCACGTGCACGGCGA	0.637																																																0													113	80	91					1																	47078805		2203	4300	6503	SO:0001819	synonymous_variant	148932			AK091808	CCDS539.1, CCDS540.1	1p34.1	2011-09-28	2011-09-28	2011-09-28	ENSG00000142961	ENSG00000142961		"MOB kinase activators"	29800	protein-coding gene	gene with protein product			"MOB1, Mps One Binder kinase activator-like 2C (yeast)"	MOBKL2C		12477932	Standard	NM_145279		Approved	MOB1E	uc001cqe.4	Q70IA8	OTTHUMG00000007989	ENST00000319928.3:c.189C>T	1.37:g.47078805G>A			D3DQ22|Q0VA98|Q5TC10|Q5TC11|Q8NAZ2|Q8NF28	Silent	SNP	ENST00000319928.3	37	CCDS540.1																																																																																				0.637	MOB3C-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_145279		A	47078805	G	A	47078805	2	1	734	1	0	0	0	0	0	0	0	1	9688	1136	40	1		1	MOBKL2C	1	47078805	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	585325	47078805	202171816	40	41459											
BEND5	79656	broad.mit.edu	37	1	49208391	49208391	+	Silent	SNP	C	C	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:49208391C>A	ENST00000371833.3	-	4	884	c.798G>T	c.(796-798)ccG>ccT	p.P266P	AGBL4_ENST00000371838.1_Intron|AGBL4_ENST00000371839.1_Intron|BEND5_ENST00000476096.1_Intron	NM_024603.2	NP_078879.2	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	266						Golgi apparatus (GO:0005794)				large_intestine(5)|lung(2)|skin(1)	8						TCCGTAACTCCGGCTCGGGCT	0.468																																																0													104	98	100					1																	49208391		2203	4300	6503	SO:0001819	synonymous_variant	79656			BC007932	CCDS552.2	1p33	2012-11-22	2008-10-03	2008-10-03	ENSG00000162373	ENSG00000162373		"BEN domain containing"	25668	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 165"	C1orf165		12477932	Standard	NM_024603		Approved	FLJ11588	uc001crx.4	Q7L4P6	OTTHUMG00000008153	ENST00000371833.3:c.798G>T	1.37:g.49208391C>A			D3DQ27|Q96A62|Q9HAI3	Silent	SNP	ENST00000371833.3	37	CCDS552.2																																																																																				0.468	BEND5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022323.1	NM_024603		A	49208391	C	A	49208391	2	1	734	1	0	0	0	0	0	0	0	1	1401	639	23	4		4	BEND5	1	49208391	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	2129586	49208391	200042230	41	41460											
SLC1A7	6512	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	53580601	53580601	+	Missense_Mutation	SNP	C	C	T	rs139757854	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:53580601C>T	ENST00000371494.4	-	3	387	c.260G>A	c.(259-261)cGc>cAc	p.R87H	RP11-334A14.8_ENST00000439621.1_RNA|SLC1A7_ENST00000371491.4_Missense_Mutation_p.R87H	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	87					dicarboxylic acid transport (GO:0006835)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)		GACGCCCAGGCGGCTAGAGGT	0.662													C|||	7	0.00139776	0.0038	0.0014	5008	,	,		19321	0.001		0.0	False		,,,				2504	0.0				NSCLC(128;80 1811 21245 38490 51715)											0								C	HIS/ARG	13,4393	21.2+/-45.6	0,13,2190	81	66	71		260	5.7	1	1	dbSNP_134	71	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SLC1A7	NM_006671.4	29	0,14,6489	TT,TC,CC		0.0116,0.2951,0.1076	probably-damaging	87/561	53580601	14,12992	2203	4300	6503	SO:0001583	missense	6512			U76362	CCDS574.1, CCDS72796.1, CCDS72797.1, CCDS72798.1	1p32.3	2013-05-22			ENSG00000162383	ENSG00000162383		"Solute carriers"	10945	protein-coding gene	gene with protein product		604471				9108121	Standard	NM_001287597		Approved	EAAT5	uc001cuy.3	O00341	OTTHUMG00000008937	ENST00000371494.4:c.260G>A	1.37:g.53580601C>T	ENSP00000360549:p.Arg87His		Q5VVZ0|Q969Z8|Q9BW45	Missense_Mutation	SNP	ENST00000371494.4	37	CCDS574.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	36	5.643268	0.96704	0.002951	1.16E-4	ENSG00000162383	ENST00000371494;ENST00000371491	T;T	0.62498	0.02;0.02	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.85168	0.5635	M	0.93462	3.42	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.74023	0.955;0.982	D	0.88426	0.3032	10	0.87932	D	0	-19.1116	19.8154	0.96566	0.0:1.0:0.0:0.0	.	87;87	Q9BW45;O00341	.;EAA5_HUMAN	H	87	ENSP00000360549:R87H;ENSP00000360546:R87H	ENSP00000360546:R87H	R	-	2	0	SLC1A7	53353189	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.777000	0.68931	2.699000	0.92147	0.655000	0.94253	CGC		0.662	SLC1A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024746.1	NM_006671		T	53580601	C	T	53580601	3	4	734	1	0	0	0	0	1	0	0	0	14443	768	27	1	1458	1	SLC1A7	1	53580601	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	4372210	53580601	195670020	42	41461											
C1orf168	199920	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	57185885	57185885	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:57185885C>T	ENST00000343433.6	-	18	2172	c.2092G>A	c.(2092-2094)Gaa>Aaa	p.E698K		NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	698										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						AGATTTTGTTCGGTGGTATCA	0.303																																																0													73	69	70					1																	57185885		2202	4299	6501	SO:0001583	missense	199920			BX648439	CCDS30729.1	1p32.2	2011-02-22			ENSG00000187889	ENSG00000187889			27295	protein-coding gene	gene with protein product						14702039	Standard	NM_001004303		Approved	RP4-758N20.2, FLJ43208	uc001cym.4	Q5VWT5	OTTHUMG00000008281	ENST00000343433.6:c.2092G>A	1.37:g.57185885C>T	ENSP00000345972:p.Glu698Lys		Q63HM3|Q6ZUY6	Missense_Mutation	SNP	ENST00000343433.6	37	CCDS30729.1	.	.	.	.	.	.	.	.	.	.	C	14.56	2.573175	0.45902	.	.	ENSG00000187889	ENST00000343433	T	0.33865	1.39	4.85	1.8	0.24995	Src homology-3 domain (2);	0.106418	0.40385	N	0.001119	T	0.30510	0.0767	M	0.68317	2.08	0.37302	D	0.908737	B	0.31989	0.35	B	0.22880	0.042	T	0.33624	-0.9861	10	0.62326	D	0.03	-12.4878	8.1341	0.31043	0.0:0.7104:0.1321:0.1575	.	698	Q5VWT5	CA168_HUMAN	K	698	ENSP00000345972:E698K	ENSP00000345972:E698K	E	-	1	0	C1orf168	56958473	0.970000	0.33590	0.944000	0.38274	0.296000	0.27459	1.987000	0.40687	0.777000	0.33496	-0.727000	0.03589	GAA		0.303	C1orf168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022751.2	NM_001004303		T	57185885	C	T	57185885	3	4	734	1	0	0	0	0	1	0	0	0	2014	893	31	1	106	1	C1orf168	1	57185885	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	3605284	57185885	192064736	43	41462											
NFIA	4774	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	61818215	61818215	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:61818215C>T	ENST00000403491.3	+	5	1278	c.794C>T	c.(793-795)tCt>tTt	p.S265F	NFIA_ENST00000479364.1_3'UTR|NFIA_ENST00000371185.2_Missense_Mutation_p.S243F|NFIA_ENST00000485903.2_Missense_Mutation_p.S265F|NFIA_ENST00000371187.3_Missense_Mutation_p.S265F|NFIA_ENST00000371184.2_Intron|NFIA_ENST00000407417.3_Missense_Mutation_p.S257F|NFIA_ENST00000371191.1_Missense_Mutation_p.S288F|NFIA_ENST00000371189.4_Missense_Mutation_p.S310F	NM_001134673.3|NM_005595.4	NP_001128145.1|NP_005586.1	Q12857	NFIA_HUMAN	nuclear factor I/A	265					DNA replication (GO:0006260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to organic cyclic compound (GO:0014070)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)		NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						ATGAGGAGGTCTTTACCCAGC	0.433																																																0													99	97	97					1																	61818215		2203	4300	6503	SO:0001583	missense	4774			U07809	CCDS615.1, CCDS44156.1, CCDS53322.1, CCDS53321.1	1p31.3-p31.2	2008-02-05			ENSG00000162599	ENSG00000162599			7784	protein-coding gene	gene with protein product		600727				7590749	Standard	NM_001134673		Approved	NFI-L, KIAA1439	uc010oos.2	Q12857	OTTHUMG00000008618	ENST00000403491.3:c.794C>T	1.37:g.61818215C>T	ENSP00000384523:p.Ser265Phe		B4DRJ3|B4DS53|F5H0R0|F8W8W3|Q8TA97|Q9H3X9|Q9P2A9	Missense_Mutation	SNP	ENST00000403491.3	37	CCDS44156.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.838354	0.91117	.	.	ENSG00000162599	ENST00000371191;ENST00000407417;ENST00000371189;ENST00000403491;ENST00000485903;ENST00000371185;ENST00000371187	T;T;T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71;0.71;0.71	5.85	5.85	0.93711	.	0.055720	0.85682	D	0.000000	T	0.60157	0.2247	M	0.77820	2.39	0.54753	D	0.999984	P;P;P;P	0.47191	0.785;0.891;0.82;0.867	P;P;B;B	0.46026	0.466;0.501;0.378;0.367	T	0.65368	-0.6185	10	0.72032	D	0.01	-11.0848	20.1576	0.98120	0.0:1.0:0.0:0.0	.	310;288;265;265	F8W8W3;B1AKN8;Q12857;Q12857-2	.;.;NFIA_HUMAN;.	F	288;257;310;265;265;243;265	ENSP00000360233:S288F;ENSP00000384680:S257F;ENSP00000360231:S310F;ENSP00000384523:S265F;ENSP00000419785:S265F;ENSP00000360227:S243F;ENSP00000360229:S265F	ENSP00000360227:S243F	S	+	2	0	NFIA	61590803	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.212000	0.77941	2.773000	0.95371	0.650000	0.86243	TCT		0.433	NFIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023799.3	NM_005595		T	61818215	C	T	61818215	3	4	734	1	0	0	0	0	1	0	0	0	10372	913	32	2	958	2	NFIA	1	61818215	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	4632330	61818215	187432406	44	41463											
KANK4	163782	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	62739646	62739646	+	Missense_Mutation	SNP	A	A	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:62739646A>T	ENST00000371153.4	-	3	1508	c.1130T>A	c.(1129-1131)aTc>aAc	p.I377N	KANK4_ENST00000354381.3_Intron|KANK4_ENST00000371150.1_5'Flank	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	377						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						CCTAGCTTTGATTTCCTCTTC	0.542																																																0													119	108	112					1																	62739646		2203	4300	6503	SO:0001583	missense	163782			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.1130T>A	1.37:g.62739646A>T	ENSP00000360195:p.Ile377Asn		B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Missense_Mutation	SNP	ENST00000371153.4	37	CCDS620.1	.	.	.	.	.	.	.	.	.	.	A	3.082	-0.188865	0.06299	.	.	ENSG00000132854	ENST00000371153	T	0.44881	0.91	5.36	0.288	0.15719	.	1.022470	0.07836	N	0.962235	T	0.30916	0.0780	L	0.40543	1.245	0.09310	N	1	B	0.34181	0.44	B	0.31191	0.125	T	0.25813	-1.0121	10	0.87932	D	0	-1.2477	5.3376	0.15967	0.6232:0.1378:0.239:0.0	.	377	Q5T7N3	KANK4_HUMAN	N	377	ENSP00000360195:I377N	ENSP00000360195:I377N	I	-	2	0	KANK4	62512234	0.000000	0.05858	0.036000	0.18154	0.004000	0.04260	0.556000	0.23438	-0.194000	0.10399	-0.415000	0.06103	ATC		0.542	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024877.1	NM_181712		T	62739646	A	T	62739646	3	4	734	1	0	0	0	0	1	0	0	0	7981	333	12	5	1889	5	KANK4	1	62739646	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	921431	62739646	186510975	45	41464											
DOCK7	85440	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	1	62979274	62979274	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:62979274T>C	ENST00000340370.5	-	32	4047	c.4030A>G	c.(4030-4032)Aaa>Gaa	p.K1344E	DOCK7_ENST00000251157.5_Missense_Mutation_p.K1375E	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1375					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						AACACTTTTTTCCCCTAAAAT	0.353																																																0													75	73	73					1																	62979274		2203	4300	6503	SO:0001583	missense	85440				CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.4030A>G	1.37:g.62979274T>C	ENSP00000340742:p.Lys1344Glu		Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	CCDS30734.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.2|20.2	3.944363|3.944363	0.73672|0.73672	.|.	.|.	ENSG00000116641|ENSG00000116641	ENST00000454575|ENST00000371140;ENST00000251157;ENST00000340370;ENST00000395441	.|T;T	.|0.02216	.|4.39;4.39	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.10380|0.10380	0.0254|0.0254	M|M	0.76574|0.76574	2.34|2.34	0.80722|0.80722	D|D	1|1	.|B;P;P;P;P;P	.|0.52170	.|0.397;0.855;0.835;0.835;0.951;0.824	.|B;P;P;P;P;P	.|0.57548	.|0.269;0.64;0.574;0.574;0.823;0.767	T|T	0.00260|0.00260	-1.1869|-1.1869	5|10	.|0.72032	.|D	.|0.01	.|.	15.8506|15.8506	0.78927|0.78927	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1375;1375;1344;1344;1344;1375	.|Q96N67;Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3;Q96N67-6	.|DOCK7_HUMAN;.;.;.;.;.	G|E	546|1375;1375;1344;114	.|ENSP00000251157:K1375E;ENSP00000340742:K1344E	.|ENSP00000251157:K1375E	E|K	-|-	2|1	0|0	DOCK7|DOCK7	62751862|62751862	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	8.037000|8.037000	0.88933|0.88933	2.137000|2.137000	0.66172|0.66172	0.460000|0.460000	0.39030|0.39030	GAA|AAA		0.353	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		C	62979274	T	C	62979274	3	2	734	1	0	0	0	0	1	0	0	0	4694	1792	62	3	2371	3	DOCK7	1	62979274	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	239628	62979274	186271347	46	41465											
CACHD1	57685	broad.mit.edu;mdanderson.org;bcgsc.ca	37	1	65146953	65146953	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:65146953G>A	ENST00000371073.2	+	25	3419	c.3419G>A	c.(3418-3420)cGt>cAt	p.R1140H	CACHD1_ENST00000290039.5_Missense_Mutation_p.R1089H|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	1140					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						ATGTCAGTGCGTATGTCCAAC	0.443																																																0													177	167	170					1																	65146953		2203	4300	6503	SO:0001583	missense	57685			AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"von Willebrand factor type A and cache domain containing 1"	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.3419G>A	1.37:g.65146953G>A	ENSP00000360113:p.Arg1140His		Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Missense_Mutation	SNP	ENST00000371073.2	37		.	.	.	.	.	.	.	.	.	.	G	28.2	4.895773	0.91962	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	T;T	0.28454	1.61;1.63	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.42517	0.1206	L	0.43923	1.385	0.80722	D	1	D	0.71674	0.998	D	0.72075	0.976	T	0.22243	-1.0222	10	0.56958	D	0.05	-17.9156	19.7173	0.96127	0.0:0.0:1.0:0.0	.	1140	Q5VU97	CAHD1_HUMAN	H	1140;1089	ENSP00000360113:R1140H;ENSP00000290039:R1089H	ENSP00000290039:R1089H	R	+	2	0	CACHD1	64919541	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.388000	0.97237	2.724000	0.93272	0.563000	0.77884	CGT		0.443	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925		A	65146953	G	A	65146953	3	1	734	1	0	0	0	0	1	0	0	0	2539	1145	40	1	3364	1	CACHD1	1	65146953	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	2167679	65146953	184103668	47	41466											
FUBP1	8880	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	1	78428480	78428480	+	Missense_Mutation	SNP	C	C	T	rs569795654		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:78428480C>T	ENST00000370768.2	-	14	1400	c.1319G>A	c.(1318-1320)cGg>cAg	p.R440Q	FUBP1_ENST00000436586.2_Missense_Mutation_p.R461Q|FUBP1_ENST00000370767.1_Missense_Mutation_p.R440Q	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	440	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						TATGAGTTGCCGAGCATAGTC	0.343			"F, N"		oligodendroglioma								C|||	1	0.000199681	0.0	0.0	5008	,	,		18337	0.0		0.0	False		,,,				2504	0.001						Rec	yes		1	1p13.1	8880	far upstream element (FUSE) binding protein 1		O	0													102	98	99					1																	78428480		2202	4300	6502	SO:0001583	missense	8880			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.1319G>A	1.37:g.78428480C>T	ENSP00000359804:p.Arg440Gln		Q12828	Missense_Mutation	SNP	ENST00000370768.2	37	CCDS683.1	.	.	.	.	.	.	.	.	.	.	C	18.46	3.629104	0.67015	.	.	ENSG00000162613	ENST00000370773;ENST00000370767;ENST00000370768;ENST00000394922;ENST00000436586	T;T;T	0.30981	1.51;1.51;1.51	5.63	4.72	0.59763	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.11665	0.0284	N	0.20685	0.6	0.58432	D	0.999999	P;P	0.51537	0.946;0.6	P;B	0.47430	0.547;0.144	T	0.02885	-1.1098	10	0.07990	T	0.79	-13.7264	14.6631	0.68888	0.0:0.9301:0.0:0.0699	.	461;440	B4DT31;Q96AE4	.;FUBP1_HUMAN	Q	439;440;440;439;461	ENSP00000359803:R440Q;ENSP00000359804:R440Q;ENSP00000389536:R461Q	ENSP00000294623:R439Q	R	-	2	0	FUBP1	78201068	1.000000	0.71417	0.997000	0.53966	0.014000	0.08584	7.773000	0.85462	1.531000	0.49152	0.650000	0.86243	CGG		0.343	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		T	78428480	C	T	78428480	3	4	734	1	0	0	0	0	1	0	0	0	6094	652	23	1	643	1	FUBP1	1	78428480	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	13281527	78428480	170822141	48	41467											
SH3GLB1	51100	mdanderson.org	37	1	87181510	87181510	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:87181510T>C	ENST00000370558.4	+	2	500	c.176T>C	c.(175-177)aTa>aCa	p.I59T	SH3GLB1_ENST00000535010.1_Intron|SH3GLB1_ENST00000482504.1_Missense_Mutation_p.I59T	NM_001206651.1|NM_001206653.1|NM_016009.4	NP_001193580.1|NP_001193582.1|NP_057093.1	Q9Y371	SHLB1_HUMAN	SH3-domain GRB2-like endophilin B1	59	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				'de novo' posttranslational protein folding (GO:0051084)|apoptotic process (GO:0006915)|phosphatidic acid biosynthetic process (GO:0006654)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial outer membrane (GO:0005741)|protein complex (GO:0043234)	fatty acid binding (GO:0005504)|identical protein binding (GO:0042802)|lysophosphatidic acid acyltransferase activity (GO:0042171)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|stomach(1)	11		Lung NSC(277;0.209)		all cancers(265;0.0136)|Epithelial(280;0.0414)		ACAGAAAAAATAATGAAACAA	0.358																																																0													72	69	70					1																	87181510		2203	4300	6503	SO:0001583	missense	51100			AF263293	CCDS710.1, CCDS55612.1, CCDS55613.1, CCDS72819.1	1p22.3	2012-04-17	2001-12-04		ENSG00000097033	ENSG00000097033		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	10833	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 70"	609287	"SH3-domain, GRB2-like, endophilin B1"			11161816, 11259440	Standard	NM_016009		Approved	CGI-61, KIAA0491, Bif-1, PPP1R70	uc001dly.3	Q9Y371	OTTHUMG00000010257	ENST00000370558.4:c.176T>C	1.37:g.87181510T>C	ENSP00000473267:p.Ile59Thr		B4E182|Q5H8U5|Q9H3Z0|Q9NR47|Q9NYA9	Missense_Mutation	SNP	ENST00000370558.4	37	CCDS710.1	.	.	.	.	.	.	.	.	.	.	T	17.99	3.522680	0.64747	.	.	ENSG00000097033	ENST00000212369;ENST00000482504	T	0.36340	1.26	5.21	5.21	0.72293	BAR (3);	0.041759	0.85682	D	0.000000	T	0.55114	0.1900	M	0.87827	2.91	0.80722	D	1	P;D	0.55605	0.726;0.972	B;P	0.62491	0.261;0.903	T	0.65656	-0.6115	10	0.87932	D	0	-9.4644	15.0805	0.72110	0.0:0.0:0.0:1.0	.	59;59	Q9Y371-2;Q9Y371	.;SHLB1_HUMAN	T	59	ENSP00000418744:I59T	ENSP00000212369:I59T	I	+	2	0	SH3GLB1	86954098	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.036000	0.88901	1.963000	0.57068	0.482000	0.46254	ATA		0.358	SH3GLB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028287.2	NM_016009		C	87181510	T	C	87181510	3	2	734	1	0	0	0	0	1	0	0	0	14259	1406	49	3	182	3	SH3GLB1	1	87181510	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	8753030	87181510	162069111	49	41468											
HFM1	164045	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	1	91809065	91809065	+	Silent	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:91809065A>G	ENST00000370425.3	-	20	2355	c.2257T>C	c.(2257-2259)Tta>Cta	p.L753L	HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000370424.3_Silent_p.L432L	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	753					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)		TTCAAACATAATTCTGTTTAA	0.264																																																0													20	20	20					1																	91809065		2177	4229	6406	SO:0001819	synonymous_variant	164045			AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"SEC63 domain containing 1"	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.2257T>C	1.37:g.91809065A>G			B1B0B6|Q8N9Q0	Silent	SNP	ENST00000370425.3	37	CCDS30769.2																																																																																				0.264	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		G	91809065	A	G	91809065	2	3	734	1	0	0	0	0	0	0	0	1	7085	98	4	3		3	HFM1	1	91809065	Silent	SNP	A	TCGA-KN-8428-01A-11D-2310-10	4627555	91809065	157441556	50	41469											
VCAM1	7412	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	101186203	101186203	+	Missense_Mutation	SNP	C	C	T	rs142501320		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:101186203C>T	ENST00000294728.2	+	2	337	c.236C>T	c.(235-237)aCg>aTg	p.T79M	VCAM1_ENST00000370119.4_Intron|VCAM1_ENST00000370115.1_Missense_Mutation_p.T79M|VCAM1_ENST00000347652.2_Missense_Mutation_p.T79M	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	79	Ig-like C2-type 1.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	ACCACATCTACGCTGACAATG	0.468																																																0								C	MET/THR,,MET/THR	0,4406		0,0,2203	108	92	98		236,,236	0.8	0.1	1	dbSNP_134	98	1,8599		0,1,4299	no	missense,intron,missense	VCAM1	NM_001078.3,NM_001199834.1,NM_080682.2	81,,81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,,possibly-damaging	79/740,,79/648	101186203	1,13005	2203	4300	6503	SO:0001583	missense	7412			M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Endogenous ligands"	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.236C>T	1.37:g.101186203C>T	ENSP00000294728:p.Thr79Met		A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Missense_Mutation	SNP	ENST00000294728.2	37	CCDS773.1	.	.	.	.	.	.	.	.	.	.	C	11.66	1.703656	0.30232	0.0	1.16E-4	ENSG00000162692	ENST00000347652;ENST00000294728;ENST00000370115	T;T;T	0.70986	-0.53;-0.53;-0.53	5.82	0.799	0.18667	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.500140	0.25035	N	0.033655	T	0.65015	0.2651	M	0.87038	2.855	0.19945	N	0.999943	P;P	0.51653	0.915;0.947	B;P	0.49561	0.118;0.615	T	0.61681	-0.7013	9	.	.	.	-0.3281	8.3979	0.32568	0.0:0.6113:0.0:0.3887	.	79;79	P19320-2;P19320	.;VCAM1_HUMAN	M	79	ENSP00000304611:T79M;ENSP00000294728:T79M;ENSP00000359133:T79M	.	T	+	2	0	VCAM1	100958791	0.000000	0.05858	0.093000	0.20910	0.435000	0.31806	-0.230000	0.09083	0.097000	0.17492	-0.136000	0.14681	ACG		0.468	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030213.1	NM_001078		T	101186203	C	T	101186203	3	4	734	1	0	0	0	0	1	0	0	0	17142	536	19	1	242	1	VCAM1	1	101186203	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	9377138	101186203	148064418	51	41470											
KIAA1324	57535	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	1	109735386	109735386	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:109735386C>T	ENST00000369939.3	+	14	2020	c.1837C>T	c.(1837-1839)Cga>Tga	p.R613*	KIAA1324_ENST00000369938.1_3'UTR|KIAA1324_ENST00000529753.1_Nonsense_Mutation_p.R526*	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	613					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)	p.R613*(1)		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)		CTATATTGACCGAGATTCAGG	0.557																																																1	Substitution - Nonsense(1)	breast(1)											171	161	164					1																	109735386		2203	4300	6503	SO:0001587	stop_gained	57535			AK057647	CCDS794.1, CCDS58015.1	1p13.3	2008-09-18			ENSG00000116299	ENSG00000116299			29618	protein-coding gene	gene with protein product	"estrogen induced gene 121"	611298				10718198, 16322283	Standard	NM_020775		Approved	maba1, EIG121	uc021orb.1	Q6UXG2	OTTHUMG00000011725	ENST00000369939.3:c.1837C>T	1.37:g.109735386C>T	ENSP00000358955:p.Arg613*		Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	Nonsense_Mutation	SNP	ENST00000369939.3	37	CCDS794.1	.	.	.	.	.	.	.	.	.	.	C	36	5.811795	0.96975	.	.	ENSG00000116299	ENST00000369939;ENST00000457623;ENST00000529753	.	.	.	4.81	3.87	0.44632	.	0.296646	0.33732	N	0.004604	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	0.3541	10.9302	0.47213	0.4598:0.5402:0.0:0.0	.	.	.	.	X	613;563;526	.	ENSP00000358955:R613X	R	+	1	2	KIAA1324	109536909	0.001000	0.12720	0.993000	0.49108	0.969000	0.65631	0.746000	0.26275	1.343000	0.45638	0.650000	0.86243	CGA		0.557	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032389.2	NM_020775		T	109735386	C	T	109735386	4	4	734	1	0	0	0	0	0	1	0	0	8225	644	23	1	1891	1	KIAA1324	1	109735386	Nonsense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	8549183	109735386	139515235	52	41471											
GSTM2	2946	broad.mit.edu	37	1	110211966	110211966	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:110211966C>T	ENST00000241337.4	+	4	282	c.232C>T	c.(232-234)Cgg>Tgg	p.R78W	GSTM2_ENST00000369831.2_Missense_Mutation_p.R78W|GSTM2_ENST00000460717.3_Missense_Mutation_p.R78W|GSTM2_ENST00000369827.3_Missense_Mutation_p.R76W|GSTM2_ENST00000369829.2_Missense_Mutation_p.R78W|GSTM2_ENST00000414179.2_5'UTR|GSTM2_ENST00000442650.1_Missense_Mutation_p.R78W|GSTM2_ENST00000464206.1_3'UTR	NM_000848.3	NP_000839.1	P28161	GSTM2_HUMAN	glutathione S-transferase mu 2 (muscle)	78	GST N-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)	CGCCATCCTGCGGTACATTGC	0.592																																																0													236	197	210					1																	110211966		2203	4300	6503	SO:0001583	missense	2946			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.232C>T	1.37:g.110211966C>T	ENSP00000241337:p.Arg78Trp		B4DRY4|E9PEM9|Q2M318|Q5TZY5|Q8WWE1	Missense_Mutation	SNP	ENST00000241337.4	37	CCDS808.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.596233	0.66332	.	.	ENSG00000213366	ENST00000442650;ENST00000369827;ENST00000369831;ENST00000460717;ENST00000467579;ENST00000369829;ENST00000241337	T;T;T;T;T;T;T	0.09538	2.97;2.97;2.97;2.97;2.97;2.97;2.97	3.12	3.12	0.35913	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.068387	0.56097	U	0.000040	T	0.45337	0.1337	H	0.99777	4.77	0.50313	D	0.999867	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.997	T	0.68044	-0.5513	10	0.87932	D	0	.	11.6039	0.51020	0.0:1.0:0.0:0.0	.	78;78;78	E9PEM9;P28161;Q0D2I8	.;GSTM2_HUMAN;.	W	78;76;78;78;78;78;78	ENSP00000416883:R78W;ENSP00000358842:R76W;ENSP00000358846:R78W;ENSP00000435910:R78W;ENSP00000435157:R78W;ENSP00000358844:R78W;ENSP00000241337:R78W	ENSP00000241337:R78W	R	+	1	2	GSTM2	110013489	1.000000	0.71417	0.999000	0.59377	0.935000	0.57460	2.607000	0.46300	1.740000	0.51718	0.552000	0.68991	CGG		0.592	GSTM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032167.2	NM_000848		T	110211966	C	T	110211966	3	4	734	1	0	0	0	0	1	0	0	0	6840	759	27	1	246	1	GSTM2	1	110211966	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	476580	110211966	139038655	53	41472											
SLC6A17	388662	broad.mit.edu;mdanderson.org;bcgsc.ca	37	1	110709687	110709687	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:110709687G>A	ENST00000331565.4	+	2	621	c.136G>A	c.(136-138)Ggc>Agc	p.G46S	RP5-1028L10.1_ENST00000418579.1_RNA|RP5-1028L10.1_ENST00000430098.1_RNA|RP5-1028L10.1_ENST00000443008.1_RNA	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	46					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)		TGAGGCAGGCGGCAAGCAGAA	0.612																																																0													61	50	54					1																	110709687		2203	4300	6503	SO:0001583	missense	388662				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.136G>A	1.37:g.110709687G>A	ENSP00000330199:p.Gly46Ser		A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Missense_Mutation	SNP	ENST00000331565.4	37	CCDS30799.1	.	.	.	.	.	.	.	.	.	.	G	1.760	-0.487155	0.04352	.	.	ENSG00000197106	ENST00000331565;ENST00000450985	T	0.74106	-0.81	4.55	1.64	0.23874	.	1.365360	0.04314	N	0.349445	T	0.26557	0.0649	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.22800	-1.0206	10	0.06757	T	0.87	.	8.1845	0.31330	0.3973:0.0:0.6027:0.0	.	46	Q9H1V8	S6A17_HUMAN	S	46	ENSP00000330199:G46S	ENSP00000330199:G46S	G	+	1	0	SLC6A17	110511210	0.445000	0.25657	0.441000	0.26858	0.138000	0.21146	0.667000	0.25112	0.168000	0.19655	-0.993000	0.02533	GGC		0.612	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032550.2	XM_371280		A	110709687	G	A	110709687	3	1	734	1	0	0	0	0	1	0	0	0	14686	1116	39	1	138	1	SLC6A17	1	110709687	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	497721	110709687	138540934	54	41473											
IGSF3	3321	broad.mit.edu;mdanderson.org;bcgsc.ca	37	1	117150686	117150686	+	Missense_Mutation	SNP	C	C	T	rs202203327	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:117150686C>T	ENST00000369486.3	-	5	1865	c.1100G>A	c.(1099-1101)cGc>cAc	p.R367H	IGSF3_ENST00000369483.1_Missense_Mutation_p.R367H|IGSF3_ENST00000318837.6_Missense_Mutation_p.R367H	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	367	Ig-like C2-type 3.				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)		ATCTTCCTGGCGGAGGTGGTA	0.537																																																0													61	63	62					1																	117150686		2199	4295	6494	SO:0001583	missense	3321			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.1100G>A	1.37:g.117150686C>T	ENSP00000358498:p.Arg367His		A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.442537	0.63067	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.68479	-0.33;-0.33;-0.33	4.67	4.67	0.58626	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.187265	0.47852	D	0.000220	T	0.59636	0.2208	N	0.12182	0.205	0.42261	D	0.992011	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.994;1.0;0.997	T	0.64622	-0.6364	10	0.39692	T	0.17	-35.2863	15.4322	0.75108	0.0:1.0:0.0:0.0	.	367;367;367	O75054-2;O75054;A6NJZ6	.;IGSF3_HUMAN;.	H	367	ENSP00000358498:R367H;ENSP00000358495:R367H;ENSP00000321184:R367H	ENSP00000321184:R367H	R	-	2	0	IGSF3	116952209	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.622000	0.46427	2.571000	0.86741	0.557000	0.71058	CGC		0.537	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		T	117150686	C	T	117150686	3	4	734	1	0	0	0	0	1	0	0	0	7603	768	27	1	2576	1	IGSF3	1	117150686	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	6440999	117150686	132099935	55	41474											
PDE4DIP	9659	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	1	144879218	144879218	+	Missense_Mutation	SNP	C	C	T	rs587744111	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:144879218C>T	ENST00000369354.3	-	27	4421	c.4232G>A	c.(4231-4233)aGt>aAt	p.S1411N	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.S1547N|RP4-791M13.5_ENST00000531288.1_RNA|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.S1547N|AL138796.1_ENST00000582173.1_RNA|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S1411N|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S1367N			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1411					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ATCAGGGACACTATGAGGTGA	0.547			T	PDGFRB	MPD																																		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													94	98	97					1																	144879218		2203	4300	6503	SO:0001583	missense	9659			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.4232G>A	1.37:g.144879218C>T	ENSP00000358360:p.Ser1411Asn		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.468890	0.63625	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.02103	4.45;4.57;4.55;4.55;4.57	5.55	5.55	0.83447	.	.	.	.	.	T	0.03871	0.0109	M	0.66939	2.045	0.80722	D	1	D;P	0.55800	0.973;0.9	P;P	0.50490	0.642;0.576	T	0.48198	-0.9056	9	0.48119	T	0.1	.	17.002	0.86383	0.0:1.0:0.0:0.0	.	1367;1411	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	N	1367;1411;1411;1547;1547	ENSP00000327209:S1367N;ENSP00000358360:S1411N;ENSP00000358363:S1411N;ENSP00000435654:S1547N;ENSP00000358366:S1547N	ENSP00000327209:S1367N	S	-	2	0	PDE4DIP	143590575	1.000000	0.71417	0.844000	0.33320	0.112000	0.19704	6.873000	0.75541	2.616000	0.88540	0.591000	0.81541	AGT		0.547	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		T	144879218	C	T	144879218	3	4	734	1	0	0	0	0	1	0	0	0	11645	565	20	2	2880	2	PDE4DIP	1	144879218	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	27728532	144879218	104371403	56	41475											
NBPF10	100132406	mdanderson.org	37	1	145299824	145299824	+	Missense_Mutation	SNP	C	C	G	rs9424711		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:145299824C>G	ENST00000369338.1	+	2	250	c.60C>G	c.(58-60)atC>atG	p.I20M	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000342960.5_Missense_Mutation_p.I291M|RP11-458D21.5_ENST00000468030.1_3'UTR			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	291						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)		TTCTAGAAATCAATGAGAAAT	0.522																																																0													14	12	12					1																	145299824		691	1577	2268	SO:0001583	missense	100132406			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	ENST00000369338.1:c.60C>G	1.37:g.145299824C>G	ENSP00000358344:p.Ile20Met		Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369338.1	37		.	.	.	.	.	.	.	.	.	.	.	8.435	0.849541	0.17034	.	.	ENSG00000163386	ENST00000448873;ENST00000369338;ENST00000369334;ENST00000342960	T;T	0.03272	3.99;4.04	1.05	1.05	0.20165	.	.	.	.	.	T	0.01835	0.0058	M	0.73962	2.25	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37244	-0.9714	9	0.48119	T	0.1	.	5.4961	0.16804	0.0:1.0:0.0:0.0	rs9424711	20	Q86T75-2	.	M	216;20;20;291	ENSP00000358344:I20M;ENSP00000345684:I291M	ENSP00000345684:I291M	I	+	3	3	NBPF10	144011181	0.009000	0.17119	0.003000	0.11579	0.009000	0.06853	0.514000	0.22786	0.879000	0.35944	0.281000	0.19383	ATC		0.522	NBPF10-003	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038552.1	NM_001039703		G	145299824	C	G	145299824	3	3	734	1	0	0	0	0	1	0	0	0	10195	816	29	4	895	4	NBPF10	1	145299824	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	420606	145299824	103950797	57	41476											
C1orf51	148523	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	150259023	150259023	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:150259023G>A	ENST00000290363.5	+	5	1264	c.815G>A	c.(814-816)aGc>aAc	p.S272N	C1orf51_ENST00000369094.1_Missense_Mutation_p.S184N|C1orf51_ENST00000369095.1_Missense_Mutation_p.S272N	NM_144697.2	NP_653298.1	Q8N365	CIART_HUMAN		272					circadian regulation of gene expression (GO:0032922)|locomotor rhythm (GO:0045475)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|E-box binding (GO:0070888)			endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	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)			CCCCCTCTCAGCTCCCCAGGT	0.527																																																0													229	185	200					1																	150259023		2203	4300	6503	SO:0001583	missense	148523																														ENST00000290363.5:c.815G>A	1.37:g.150259023G>A	ENSP00000290363:p.Ser272Asn		B2RD43|D3DV01|Q8N795|Q96MG6	Missense_Mutation	SNP	ENST00000290363.5	37	CCDS949.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.099915	0.56183	.	.	ENSG00000159208	ENST00000447007;ENST00000369095;ENST00000369094;ENST00000417398;ENST00000290363	.	.	.	5.65	5.65	0.86999	.	0.583933	0.18710	N	0.133303	T	0.45716	0.1356	L	0.60455	1.87	0.30762	N	0.743957	B	0.30584	0.286	B	0.38985	0.287	T	0.50608	-0.8808	9	0.59425	D	0.04	-3.4695	16.751	0.85485	0.0:0.0:1.0:0.0	.	272	Q8N365	CA051_HUMAN	N	184;272;184;184;272	.	ENSP00000290363:S272N	S	+	2	0	C1orf51	148525647	0.426000	0.25506	0.494000	0.27515	0.805000	0.45488	4.988000	0.63863	2.941000	0.99782	0.655000	0.94253	AGC		0.527	C1orf51-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035058.1			A	150259023	G	A	150259023	3	1	734	1	0	0	0	0	1	0	0	0	2045	971	34	2	833	2	C1orf51	1	150259023	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	4959199	150259023	98991598	58	41477											
RPRD2	23248	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	1	150445515	150445515	+	Missense_Mutation	SNP	G	G	A	rs372428982		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:150445515G>A	ENST00000369068.4	+	11	4095	c.4091G>A	c.(4090-4092)cGt>cAt	p.R1364H	RPRD2_ENST00000401000.4_Missense_Mutation_p.R1338H|RPRD2_ENST00000492220.1_3'UTR	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1364	Pro-rich.					DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GGCCTTAGCCGTGTACGAGAG	0.662													G|||	1	0.000199681	0.0	0.0	5008	,	,		15852	0.0		0.0	False		,,,				2504	0.001															0								G	HIS/ARG	0,3872		0,0,1936	33	36	35		4091	3.5	1	1		35	2,8246		0,2,4122	no	missense	RPRD2	NM_015203.3	29	0,2,6058	AA,AG,GG		0.0242,0.0,0.0165	probably-damaging	1364/1462	150445515	2,12118	1936	4124	6060	SO:0001583	missense	23248			BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"KIAA0460"	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.4091G>A	1.37:g.150445515G>A	ENSP00000358064:p.Arg1364His		A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Missense_Mutation	SNP	ENST00000369068.4	37	CCDS44216.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.504194	0.64410	0.0	2.42E-4	ENSG00000163125	ENST00000401000;ENST00000369068	T;T	0.54866	0.55;0.56	4.43	3.52	0.40303	.	0.088754	0.45867	N	0.000333	T	0.43366	0.1244	N	0.24115	0.695	0.80722	D	1	D;D	0.76494	0.998;0.999	P;D	0.63033	0.816;0.91	T	0.50145	-0.8862	10	0.59425	D	0.04	-2.0436	12.1687	0.54146	0.0841:0.0:0.9159:0.0	.	1364;1338	Q5VT52;Q5VT52-3	RPRD2_HUMAN;.	H	1338;1364	ENSP00000383785:R1338H;ENSP00000358064:R1364H	ENSP00000358064:R1364H	R	+	2	0	RPRD2	148712139	0.995000	0.38212	0.993000	0.49108	0.997000	0.91878	2.455000	0.44988	1.086000	0.41228	0.650000	0.86243	CGT		0.662	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203		A	150445515	G	A	150445515	3	1	734	1	0	0	0	0	1	0	0	0	13623	1145	40	1	4133	1	RPRD2	1	150445515	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	186492	150445515	98805106	59	41478											
HORMAD1	84072	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	150679259	150679259	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:150679259C>T	ENST00000361824.2	-	10	679	c.574G>A	c.(574-576)Ggt>Agt	p.G192S	HORMAD1_ENST00000368993.2_Missense_Mutation_p.G192S|HORMAD1_ENST00000368995.4_Missense_Mutation_p.G112S|HORMAD1_ENST00000322343.7_Missense_Mutation_p.G185S	NM_032132.4	NP_115508.2	Q86X24	HORM1_HUMAN	HORMA domain containing 1	192	HORMA. {ECO:0000255|PROSITE- ProRule:PRU00109}.				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)			TCCTTAAAACCGGGAGGCTGG	0.343																																																0													58	59	59					1																	150679259		2202	4298	6500	SO:0001583	missense	84072			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.574G>A	1.37:g.150679259C>T	ENSP00000355167:p.Gly192Ser		A6NMK2|B3KUK1|Q4G114|Q5T5I3|Q5T5I4|Q5T5I5|Q6FIC1|Q9H0K8	Missense_Mutation	SNP	ENST00000361824.2	37	CCDS967.1	.	.	.	.	.	.	.	.	.	.	C	33	5.253463	0.95336	.	.	ENSG00000143452	ENST00000368995;ENST00000368993;ENST00000368992;ENST00000540570;ENST00000322343;ENST00000361824;ENST00000368987;ENST00000442853	T;T;T;T	0.54479	0.57;1.1;1.19;1.12	5.6	5.6	0.85130	DNA-binding HORMA (4);	0.000000	0.85682	D	0.000000	T	0.74359	0.3706	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	1.0;1.0;1.0	T	0.76748	-0.2845	10	0.45353	T	0.12	-18.6661	18.1798	0.89773	0.0:1.0:0.0:0.0	.	112;185;192	Q86X24-4;Q86X24-2;Q86X24	.;.;HORM1_HUMAN	S	112;192;121;112;185;192;121;114	ENSP00000357991:G112S;ENSP00000357989:G192S;ENSP00000326489:G185S;ENSP00000355167:G192S	ENSP00000326489:G185S	G	-	1	0	HORMAD1	148945883	1.000000	0.71417	0.999000	0.59377	0.961000	0.63080	7.067000	0.76741	2.644000	0.89710	0.467000	0.42956	GGT		0.343	HORMAD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084722.1	NM_032132		T	150679259	C	T	150679259	3	4	734	1	0	0	0	0	1	0	0	0	7288	652	23	1	634	1	HORMAD1	1	150679259	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	233744	150679259	98571362	60	41479											
SELENBP1	8991	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	1	151339349	151339349	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:151339349G>A	ENST00000368868.5	-	6	604	c.513C>T	c.(511-513)ttC>ttT	p.F171F	SELENBP1_ENST00000426705.2_Silent_p.F213F|SELENBP1_ENST00000447402.3_Silent_p.F109F|SELENBP1_ENST00000435071.1_Silent_p.F107F|SELENBP1_ENST00000473693.1_5'Flank	NM_003944.3	NP_003935.2	Q13228	SBP1_HUMAN	selenium binding protein 1	171					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)			CCTTCACCTCGAACGTCTCCC	0.582																																																0													180	155	163					1																	151339349		2203	4300	6503	SO:0001819	synonymous_variant	8991			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.513C>T	1.37:g.151339349G>A			A6NML9|A6PVW9|B2RDR3|B4DKP6|B4E1F3|Q49AQ8|Q96GX7	Silent	SNP	ENST00000368868.5	37	CCDS995.1	.	.	.	.	.	.	.	.	.	.	G	1.536	-0.542991	0.04053	.	.	ENSG00000143416	ENST00000424475	.	.	.	5.32	-4.56	0.03431	.	.	.	.	.	T	0.35682	0.0940	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48725	-0.9010	4	.	.	.	-17.87	8.8363	0.35115	0.3795:0.1209:0.4996:0.0	.	.	.	.	L	132	.	.	S	-	2	0	SELENBP1	149605973	0.039000	0.19947	0.228000	0.23943	0.160000	0.22226	-0.624000	0.05540	-0.793000	0.04475	-0.367000	0.07326	TCG		0.582	SELENBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034904.4			A	151339349	G	A	151339349	2	1	734	1	0	0	0	0	0	0	0	1	14020	1049	37	1		1	SELENBP1	1	151339349	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	660090	151339349	97911272	61	41480											
POGZ	23126	broad.mit.edu;ucsc.edu;mdanderson.org	37	1	151377515	151377515	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:151377515G>A	ENST00000271715.2	-	19	4310	c.3996C>T	c.(3994-3996)ccC>ccT	p.P1332P	POGZ_ENST00000368863.2_Silent_p.P1237P|POGZ_ENST00000409503.1_Silent_p.P1323P|POGZ_ENST00000531094.1_Silent_p.P1270P|POGZ_ENST00000361398.3_Silent_p.P1279P|POGZ_ENST00000491586.1_Silent_p.P1288P|POGZ_ENST00000540984.1_Silent_p.P694P|POGZ_ENST00000392723.1_Silent_p.P1279P	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1332					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)			TGTTGCCATCGGGGCCAGGCA	0.537											OREG0003905	type=REGULATORY REGION|Gene=POGZ|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																				0													92	87	89					1																	151377515		2203	4300	6503	SO:0001819	synonymous_variant	23126			AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"zinc finger protein 280E", "putative protein product of Nbla00003"	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.3996C>T	1.37:g.151377515G>A		1739	B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Silent	SNP	ENST00000271715.2	37	CCDS997.1																																																																																				0.537	POGZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034915.2	NM_207171		A	151377515	G	A	151377515	2	1	734	1	0	0	0	0	0	0	0	1	12188	1103	39	1		1	POGZ	1	151377515	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	38166	151377515	97873106	62	41481											
SNX27	81609	broad.mit.edu	37	1	151641045	151641045	+	Silent	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:151641045T>C	ENST00000458013.2	+	7	1203	c.1083T>C	c.(1081-1083)ctT>ctC	p.L361L	SNX27_ENST00000368843.3_Silent_p.L361L|SNX27_ENST00000368838.1_Silent_p.L268L|SNX27_ENST00000482791.1_3'UTR			Q96L92	SNX27_HUMAN	sorting nexin family member 27	361	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)			GAAAGTGGCTTTTTACAACAG	0.383																																					Colon(46;291 966 40145 41237 41888)											0													96	94	95					1																	151641045		2203	4300	6503	SO:0001819	synonymous_variant	81609			AB007957	CCDS1001.1	1q21.3	2008-03-11			ENSG00000143376	ENSG00000143376		"Sorting nexins"	20073	protein-coding gene	gene with protein product		611541				12461558	Standard	XM_005245509		Approved	MY014, KIAA0488, MGC20471	uc001eyn.1	Q96L92	OTTHUMG00000013052	ENST00000458013.2:c.1083T>C	1.37:g.151641045T>C			Q32Q36|Q4AEJ5|Q5VWB0|Q5VWB1|Q5VWB2|Q6IPP6|Q86UB1|Q96D79|Q9H3K8	Silent	SNP	ENST00000458013.2	37																																																																																					0.383	SNX27-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000036624.3	NM_030918		C	151641045	T	C	151641045	2	2	734	1	0	0	0	0	0	0	0	1	14903	1828	64	3		3	SNX27	1	151641045	Silent	SNP	T	TCGA-KN-8428-01A-11D-2310-10	263530	151641045	97609576	63	41482											
S100A4	6275	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	153516294	153516294	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:153516294C>T	ENST00000368716.4	-	3	394	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	S100A4_ENST00000481009.1_5'UTR|S100A5_ENST00000359215.1_5'Flank|S100A4_ENST00000368715.1_Missense_Mutation_p.A83T|S100A4_ENST00000368714.1_Missense_Mutation_p.A83T|S100A4_ENST00000354332.4_Missense_Mutation_p.A83T|S100A5_ENST00000368718.1_5'Flank	NM_002961.2	NP_002952.1	P26447	S10A4_HUMAN	S100 calcium binding protein A4	83	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				epithelial to mesenchymal transition (GO:0001837)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)			large_intestine(2)|lung(1)|prostate(1)	4	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)		Trifluoperazine(DB00831)	CACATCATGGCGATGCAGGAC	0.517																																																0													227	207	214					1																	153516294		2203	4300	6503	SO:0001583	missense	6275			BC016300	CCDS1042.1	1q12-q22	2013-01-10	2006-09-11		ENSG00000196154	ENSG00000196154		"S100 calcium binding proteins", "EF-hand domain containing"	10494	protein-coding gene	gene with protein product	"fibroblast-specific protein-1"	114210	"S100 calcium-binding protein A4 (calcium protein, calvasculin, metastasin, murine placental homolog)", "S100 calcium binding protein A4 (calcium protein, calvasculin, metastasin, murine placental homolog)"	MTS1, CAPL		3155863	Standard	NM_019554		Approved	P9KA, 18A2, PEL98, 42A, FSP1	uc001fbz.3	P26447	OTTHUMG00000013546	ENST00000368716.4:c.247G>A	1.37:g.153516294C>T	ENSP00000357705:p.Ala83Thr		A8K7R8|D3DV46|Q6ICP8	Missense_Mutation	SNP	ENST00000368716.4	37	CCDS1042.1	.	.	.	.	.	.	.	.	.	.	C	5.809	0.333474	0.11013	.	.	ENSG00000196154	ENST00000368715;ENST00000354332;ENST00000368716;ENST00000368714;ENST00000545360	T;T;T;T	0.13778	2.56;2.56;2.56;2.56	4.86	3.95	0.45737	EF-hand-like domain (1);	0.116893	0.64402	N	0.000018	T	0.01661	0.0053	N	0.05467	-0.045	0.37702	D	0.924244	B	0.30605	0.287	B	0.30401	0.115	T	0.31364	-0.9946	10	0.02654	T	1	.	9.0488	0.36363	0.0:0.8979:0.0:0.1021	.	83	P26447	S10A4_HUMAN	T	83;83;83;83;72	ENSP00000357704:A83T;ENSP00000346294:A83T;ENSP00000357705:A83T;ENSP00000357703:A83T	ENSP00000346294:A83T	A	-	1	0	S100A4	151782918	0.295000	0.24389	1.000000	0.80357	0.987000	0.75469	0.808000	0.27154	1.057000	0.40506	0.561000	0.74099	GCC		0.517	S100A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037714.1	NM_002961		T	153516294	C	T	153516294	3	4	734	1	0	0	0	0	1	0	0	0	13786	768	27	1	62	1	S100A4	1	153516294	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1875249	153516294	95734327	64	41483											
UBAP2L	9898	broad.mit.edu	37	1	154209571	154209571	+	Missense_Mutation	SNP	C	C	T	rs147740832		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:154209571C>T	ENST00000361546.2	+	7	704	c.662C>T	c.(661-663)aCg>aTg	p.T221M	UBAP2L_ENST00000271877.7_Missense_Mutation_p.T232M|UBAP2L_ENST00000343815.6_Missense_Mutation_p.T221M|UBAP2L_ENST00000428931.1_Missense_Mutation_p.T221M			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	221					binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AGCGGCAATACGTGGAACAAC	0.408																																																0								C	MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	132	112	119		662,662	5.7	1	1	dbSNP_134	119	0,8600		0,0,4300	no	missense,missense	UBAP2L	NM_001127320.1,NM_014847.3	81,81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	221/984,221/1088	154209571	1,13005	2203	4300	6503	SO:0001583	missense	9898			BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.662C>T	1.37:g.154209571C>T	ENSP00000355343:p.Thr221Met		B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	Missense_Mutation	SNP	ENST00000361546.2	37	CCDS1063.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.896345	0.91962	2.27E-4	0.0	ENSG00000143569	ENST00000343815;ENST00000428931;ENST00000271877;ENST00000412596;ENST00000368504;ENST00000437652;ENST00000456325;ENST00000361546	T;T;T;T;T;T;T;T	0.51817	2.56;2.53;2.55;0.78;0.75;0.78;0.69;2.53	5.68	5.68	0.88126	.	0.105567	0.64402	D	0.000004	T	0.54631	0.1870	L	0.36672	1.1	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	0.83275	0.991;0.965;0.996;0.996;0.994	T	0.56932	-0.7897	10	0.66056	D	0.02	-4.3154	18.7723	0.91898	0.0:1.0:0.0:0.0	.	135;232;214;221;221	B4DZJ6;F8W726;Q14157-4;Q14157-1;Q14157	.;.;.;.;UBP2L_HUMAN	M	221;221;232;221;232;214;221;221	ENSP00000345308:T221M;ENSP00000389445:T221M;ENSP00000271877:T232M;ENSP00000389052:T221M;ENSP00000357490:T232M;ENSP00000389717:T214M;ENSP00000415310:T221M;ENSP00000355343:T221M	ENSP00000271877:T232M	T	+	2	0	UBAP2L	152476195	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.431000	0.80335	2.676000	0.91093	0.591000	0.81541	ACG		0.408	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087673.1	NM_014847		T	154209571	C	T	154209571	3	4	734	1	0	0	0	0	1	0	0	0	16843	536	19	1	688	1	UBAP2L	1	154209571	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	693277	154209571	95041050	65	41484											
YY1AP1	55249	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	155629537	155629537	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:155629537A>G	ENST00000295566.4	-	11	2325	c.2302T>C	c.(2302-2304)Tct>Cct	p.S768P	YY1AP1_ENST00000361831.5_Missense_Mutation_p.S711P|YY1AP1_ENST00000368339.5_Missense_Mutation_p.S860P|YY1AP1_ENST00000535662.1_Missense_Mutation_p.S568P|YY1AP1_ENST00000368330.2_Missense_Mutation_p.S722P|YY1AP1_ENST00000355499.4_Missense_Mutation_p.S722P|YY1AP1_ENST00000407221.1_Missense_Mutation_p.S691P|YY1AP1_ENST00000347088.5_Missense_Mutation_p.S722P|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000368340.5_Missense_Mutation_p.S840P|YY1AP1_ENST00000359205.5_Missense_Mutation_p.S711P|YY1AP1_ENST00000311573.5_Missense_Mutation_p.S691P|YY1AP1_ENST00000404643.1_Missense_Mutation_p.S702P|MSTO1_ENST00000538143.1_Intron	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1	768					regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					TTGTTTAGAGACTCCTGGATG	0.498																																																0													110	111	111					1																	155629537		2203	4300	6503	SO:0001583	missense	55249			BC008766	CCDS1115.1, CCDS1116.1, CCDS55643.1, CCDS55644.1, CCDS55645.1	1q22	2009-05-07			ENSG00000163374	ENSG00000163374			30935	protein-coding gene	gene with protein product		607860				11710830	Standard	NM_139119		Approved	YY1AP, HCCA2, YAP		Q9H869	OTTHUMG00000035437	ENST00000295566.4:c.2302T>C	1.37:g.155629537A>G	ENSP00000295566:p.Ser768Pro		B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84	Missense_Mutation	SNP	ENST00000295566.4	37	CCDS1115.1	.	.	.	.	.	.	.	.	.	.	a	14.36	2.513648	0.44763	.	.	ENSG00000163374	ENST00000359205;ENST00000355499;ENST00000311573;ENST00000347088;ENST00000361831;ENST00000368340;ENST00000295566;ENST00000368330;ENST00000407221;ENST00000404643;ENST00000368339;ENST00000535662	T;T;T;T;T;T;T;T;T;T;T;T	0.26660	1.77;1.77;1.79;1.77;1.77;1.75;1.77;1.77;1.79;1.79;1.72;1.8	2.42	-0.388	0.12459	.	0.999489	0.08099	N	0.998101	T	0.16642	0.0400	L	0.47716	1.5	0.09310	N	1	P;D;P;P;P	0.54964	0.539;0.969;0.914;0.919;0.898	B;P;P;B;B	0.58391	0.064;0.461;0.838;0.419;0.434	T	0.10337	-1.0634	10	0.62326	D	0.03	.	1.6973	0.02865	0.5284:0.0:0.1833:0.2883	.	860;702;768;722;840	B4DMP2;Q9H869-4;Q9H869;Q9H869-2;Q5VYZ1	.;.;YYAP1_HUMAN;.;.	P	711;722;691;722;711;840;768;722;691;702;860;568	ENSP00000352134:S711P;ENSP00000347686:S722P;ENSP00000311138:S691P;ENSP00000316079:S722P;ENSP00000355298:S711P;ENSP00000357324:S840P;ENSP00000295566:S768P;ENSP00000357314:S722P;ENSP00000385791:S691P;ENSP00000385390:S702P;ENSP00000357323:S860P;ENSP00000437926:S568P	ENSP00000295566:S768P	S	-	1	0	YY1AP1	153896161	0.001000	0.12720	0.018000	0.16275	0.378000	0.30076	0.223000	0.17719	0.181000	0.19994	0.260000	0.18958	TCT		0.498	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000086027.1	NM_139118		G	155629537	A	G	155629537	3	3	734	1	0	0	0	0	1	0	0	0	17513	275	10	3	92	3	YY1AP1	1	155629537	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	1419966	155629537	93621084	66	41485											
ARHGEF2	9181	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	155921539	155921539	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:155921539G>A	ENST00000361247.4	-	18	2300	c.2201C>T	c.(2200-2202)cCg>cTg	p.P734L	ARHGEF2_ENST00000462460.2_Missense_Mutation_p.P779L|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.P706L|ARHGEF2_ENST00000368316.1_Missense_Mutation_p.P706L|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.P733L|ARHGEF2_ENST00000368315.4_Missense_Mutation_p.P735L|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	734					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)	p.P706Q(1)		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)					CACCTCTTGCGGTGATCTCAG	0.517																																					Melanoma(178;35 2768 6610 28839)											1	Substitution - Missense(1)	lung(1)											107	107	107					1																	155921539		2203	4300	6503	SO:0001583	missense	9181			AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	682	protein-coding gene	gene with protein product		607560	"rho/rac guanine nucleotide exchange factor (GEF) 2"			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.2201C>T	1.37:g.155921539G>A	ENSP00000354837:p.Pro734Leu		D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Missense_Mutation	SNP	ENST00000361247.4	37	CCDS53376.1	.	.	.	.	.	.	.	.	.	.	G	12.21	1.870583	0.33069	.	.	ENSG00000116584	ENST00000313695;ENST00000361247;ENST00000368315;ENST00000368316;ENST00000313667	T;T;T;T;T	0.11169	2.8;2.8;2.8;2.8;2.8	5.23	4.32	0.51571	.	0.000000	0.43110	D	0.000609	T	0.02888	0.0086	L	0.40543	1.245	0.49687	D	0.999811	B;B;B	0.29716	0.125;0.255;0.08	B;B;B	0.16722	0.008;0.016;0.016	T	0.36601	-0.9741	10	0.17832	T	0.49	-29.7262	9.7219	0.40308	0.0928:0.0:0.9072:0.0	.	778;734;733	D3DVA5;Q92974;Q92974-2	.;ARHG2_HUMAN;.	L	706;734;735;706;733	ENSP00000315325:P706L;ENSP00000354837:P734L;ENSP00000357298:P735L;ENSP00000357299:P706L;ENSP00000314787:P733L	ENSP00000314787:P733L	P	-	2	0	ARHGEF2	154188163	1.000000	0.71417	0.990000	0.47175	0.727000	0.41649	4.930000	0.63462	1.435000	0.47434	0.655000	0.94253	CCG		0.517	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046204.2	NM_004723		A	155921539	G	A	155921539	3	1	734	1	0	0	0	0	1	0	0	0	903	1116	39	1	779	1	ARHGEF2	1	155921539	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	292002	155921539	93329082	67	41486											
MRPL24	79590	hgsc.bcm.edu;bcgsc.ca	37	1	156708172	156708172	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:156708172C>T	ENST00000361531.2	-	3	378	c.242G>A	c.(241-243)cGg>cAg	p.R81Q	MRPL24_ENST00000368211.4_Missense_Mutation_p.R81Q|MRPL24_ENST00000478899.1_5'Flank			Q96A35	RM24_HUMAN	mitochondrial ribosomal protein L24	81	KOW.				translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)			endometrium(1)|large_intestine(1)|lung(4)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTTTCGCTGCCGGATAACTTG	0.562																																																0													270	249	256					1																	156708172		2203	4300	6503	SO:0001583	missense	79590			AB051341	CCDS1155.1	1q23.1	2012-11-14			ENSG00000143314	ENSG00000143314		"Mitochondrial ribosomal proteins / large subunits"	14037	protein-coding gene	gene with protein product		611836					Standard	NM_145729		Approved	MRP-L18	uc001fpx.1	Q96A35	OTTHUMG00000041296	ENST00000361531.2:c.242G>A	1.37:g.156708172C>T	ENSP00000354525:p.Arg81Gln		D3DVC8|Q53G65|Q53HT0|Q5SYZ9|Q5SZ00|Q5SZ02|Q96Q70|Q9H7G3	Missense_Mutation	SNP	ENST00000361531.2	37	CCDS1155.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.387886	0.61956	.	.	ENSG00000143314	ENST00000361531;ENST00000368211;ENST00000434558;ENST00000412846	.	.	.	5.57	5.57	0.84162	KOW (2);Translation protein SH3-like (1);Ribosomal protein L24, SH3-like (1);	0.000000	0.85682	D	0.000000	T	0.56601	0.1996	L	0.49571	1.57	0.80722	D	1	D	0.69078	0.997	P	0.58077	0.832	T	0.49254	-0.8959	9	0.20519	T	0.43	-21.3163	17.0489	0.86513	0.0:1.0:0.0:0.0	.	81	Q96A35	RM24_HUMAN	Q	81	.	ENSP00000354525:R81Q	R	-	2	0	MRPL24	154974796	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	3.069000	0.50026	2.633000	0.89246	0.650000	0.86243	CGG		0.562	MRPL24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098955.1	NM_145729		T	156708172	C	T	156708172	3	4	734	1	0	0	0	0	1	0	0	0	9792	652	23	1	424	1	MRPL24	1	156708172	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	786633	156708172	92542449	68	41487											
SH2D2A	9047	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	156785800	156785800	+	Missense_Mutation	SNP	C	C	T	rs146718843	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:156785800C>T	ENST00000368199.3	-	2	274	c.121G>A	c.(121-123)Gcg>Acg	p.A41T	SH2D2A_ENST00000392306.2_Missense_Mutation_p.A41T|NTRK1_ENST00000392302.2_Intron|SH2D2A_ENST00000368198.3_Missense_Mutation_p.A23T|SH2D2A_ENST00000495306.1_5'UTR	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	41					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)					CCACTCACCGCAGTGTAGCCC	0.602																																																0													68	66	66					1																	156785800		2203	4300	6503	SO:0001583	missense	9047			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.121G>A	1.37:g.156785800C>T	ENSP00000357182:p.Ala41Thr		O43817|Q5UBZ1|Q5VZS4|Q5VZS5|Q9UPA7	Missense_Mutation	SNP	ENST00000368199.3	37	CCDS1159.1	.	.	.	.	.	.	.	.	.	.	C	9.380	1.072670	0.20147	.	.	ENSG00000027869	ENST00000368199;ENST00000368198;ENST00000392306	T;T;T	0.55413	0.54;0.52;0.95	4.81	0.587	0.17439	.	5.399390	0.00424	N	0.000064	T	0.12135	0.0295	N	0.14661	0.345	0.09310	N	1	B;B;B	0.14805	0.011;0.002;0.003	B;B;B	0.09377	0.004;0.002;0.001	T	0.04885	-1.0920	10	0.20046	T	0.44	3.1443	2.9431	0.05837	0.317:0.4389:0.1541:0.0901	.	41;23;41	Q9NP31-2;Q5VZS4;Q9NP31	.;.;SH22A_HUMAN	T	41;23;41	ENSP00000357182:A41T;ENSP00000357181:A23T;ENSP00000376123:A41T	ENSP00000357181:A23T	A	-	1	0	SH2D2A	155052424	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.397000	0.07269	0.024000	0.15214	0.655000	0.94253	GCG		0.602	SH2D2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098982.1	NM_003975		T	156785800	C	T	156785800	3	4	734	1	0	0	0	0	1	0	0	0	14238	710	25	2	1106	2	SH2D2A	1	156785800	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	77628	156785800	92464821	69	41488											
INSRR	3645	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	1	156814312	156814312	+	Silent	SNP	G	G	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:156814312G>T	ENST00000368195.3	-	14	3075	c.2679C>A	c.(2677-2679)acC>acA	p.T893T	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	893	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)					CAGCCAGTGAGGTTGCCCTAA	0.572																																																0													65	60	61					1																	156814312		2203	4300	6503	SO:0001819	synonymous_variant	3645			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.2679C>A	1.37:g.156814312G>T			O60724|Q5VZS3	Silent	SNP	ENST00000368195.3	37	CCDS1160.1																																																																																				0.572	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215		T	156814312	G	T	156814312	2	4	734	1	0	0	0	0	0	0	0	1	7776	987	35	4		4	INSRR	1	156814312	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	28512	156814312	92436309	70	41489											
IGSF9	57549	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	159898623	159898623	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:159898623C>T	ENST00000368094.1	-	19	2752	c.2555G>A	c.(2554-2556)cGc>cAc	p.R852H	IGSF9_ENST00000361509.3_Missense_Mutation_p.R836H|IGSF9_ENST00000493195.1_5'UTR	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	852	Pro-rich.				dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			CATCACAAAGCGCCCGTCTGG	0.692																																																0													5	6	6					1																	159898623		2125	4175	6300	SO:0001583	missense	57549			AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.2555G>A	1.37:g.159898623C>T	ENSP00000357073:p.Arg852His			Missense_Mutation	SNP	ENST00000368094.1	37	CCDS44254.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.775958	0.90195	.	.	ENSG00000085552	ENST00000361509;ENST00000368094	T;T	0.79033	-1.23;-1.17	5.15	5.15	0.70609	.	0.000000	0.38436	N	0.001699	D	0.83880	0.5350	M	0.66939	2.045	0.41370	D	0.987484	D	0.89917	1.0	D	0.83275	0.996	D	0.83801	0.0236	9	.	.	.	-16.8921	16.1159	0.81304	0.0:1.0:0.0:0.0	.	852	Q9P2J2	TUTLA_HUMAN	H	836;852	ENSP00000355049:R836H;ENSP00000357073:R852H	.	R	-	2	0	IGSF9	158165247	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.908000	0.63307	2.378000	0.81104	0.655000	0.94253	CGC		0.692	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1	NM_020789		T	159898623	C	T	159898623	3	4	734	1	0	0	0	0	1	0	0	0	7607	768	27	1	996	1	IGSF9	1	159898623	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	3084311	159898623	89351998	71	41490											
PPOX	5498	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	1	161139815	161139815	+	Splice_Site	SNP	G	G	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:161139815G>T	ENST00000367999.4	+	9	1253		c.e9+1		PPOX_ENST00000495483.1_Splice_Site|PPOX_ENST00000352210.5_Splice_Site|B4GALT3_ENST00000470882.1_5'Flank|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000432542.2_Intron|PPOX_ENST00000544598.1_Intron	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase						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)			GCCTGTCCAGGTATGATAAAG	0.577																																																0													42	37	39					1																	161139815		2203	4300	6503	SO:0001630	splice_region_variant	5498			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.987+1G>T	1.37:g.161139815G>T			D3DVG0|Q5VTW8	Splice_Site	SNP	ENST00000367999.4	37	CCDS1221.1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.407846	0.42715	.	.	ENSG00000143224	ENST00000352210;ENST00000367999;ENST00000435935;ENST00000537829	.	.	.	3.87	3.87	0.44632	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1667	0.48547	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PPOX	159406439	1.000000	0.71417	0.993000	0.49108	0.633000	0.38033	6.684000	0.74538	2.005000	0.58758	0.305000	0.20034	.		0.577	PPOX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082993.1	NM_000309	Intron	T	161139815	G	T	161139815	5	4	734	1	0	0	0	0	0	0	1	0	12353	1275	44	4	1018	4	PPOX	1	161139815	Splice_Site	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1241192	161139815	88110806	72	41491											
DDR2	4921	hgsc.bcm.edu	37	1	162724541	162724541	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:162724541C>T	ENST00000367922.3	+	6	751	c.313C>T	c.(313-315)Cgc>Tgc	p.R105C	DDR2_ENST00000367921.3_Missense_Mutation_p.R105C	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	105	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.		R -> S (in a lung large cell carcinoma sample; somatic mutation). {ECO:0000269|PubMed:16140923, ECO:0000269|PubMed:17344846}.		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)	p.R105S(1)		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)	GACCCAGGGGCGCCATGCAGG	0.547																																					NSCLC(161;314 2006 8283 19651 23192)											1	Substitution - Missense(1)	lung(1)											95	86	89					1																	162724541		2203	4300	6503	SO:0001583	missense	4921			AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"discoidin domain receptor family, member 2"	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.313C>T	1.37:g.162724541C>T	ENSP00000356899:p.Arg105Cys		Q7Z730	Missense_Mutation	SNP	ENST00000367922.3	37	CCDS1241.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.770917	0.90108	.	.	ENSG00000162733	ENST00000446985;ENST00000415555;ENST00000542391;ENST00000367922;ENST00000367921	D;D;D;D	0.98876	-5.2;-5.2;-5.2;-5.2	5.78	4.87	0.63330	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.99254	0.9740	M	0.93375	3.41	0.42876	D	0.994153	D	0.89917	1.0	D	0.97110	1.0	D	0.99029	1.0820	9	0.87932	D	0	.	13.5351	0.61643	0.0:0.9249:0.0:0.0751	.	105	Q16832	DDR2_HUMAN	C	105	ENSP00000400309:R105C;ENSP00000391310:R105C;ENSP00000356899:R105C;ENSP00000356898:R105C	ENSP00000356898:R105C	R	+	1	0	DDR2	160991165	1.000000	0.71417	0.948000	0.38648	0.998000	0.95712	7.660000	0.83776	1.453000	0.47775	0.650000	0.86243	CGC		0.547	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083213.2	NM_006182		T	162724541	C	T	162724541	3	4	734	1	0	0	0	0	1	0	0	0	4339	768	27	1	323	1	DDR2	1	162724541	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1584726	162724541	86526080	73	41492											
DUSP27	92235	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	1	167088687	167088687	+	Silent	SNP	G	G	A	rs573463190		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:167088687G>A	ENST00000361200.2	+	5	805	c.639G>A	c.(637-639)gcG>gcA	p.A213A	DUSP27_ENST00000271385.5_Silent_p.A213A|DUSP27_ENST00000443333.1_Silent_p.A213A			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	213	Tyrosine-protein phosphatase.				protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.A213A(1)		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						TGGATGAGGCGCTGCTGACTT	0.532													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18581	0.0		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	lung(1)											81	69	73					1																	167088687		2203	4300	6503	SO:0001819	synonymous_variant	92235			AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.639G>A	1.37:g.167088687G>A			A0AUM4|Q9C074	Silent	SNP	ENST00000361200.2	37	CCDS30932.1																																																																																				0.532	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		A	167088687	G	A	167088687	2	1	734	1	0	0	0	0	0	0	0	1	4826	1074	38	1		1	DUSP27	1	167088687	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	4364146	167088687	82161934	74	41493											
TBX19	9095	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	1	168282043	168282043	+	Missense_Mutation	SNP	G	G	A	rs559696399		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:168282043G>A	ENST00000367821.3	+	8	1201	c.1150G>A	c.(1150-1152)Gga>Aga	p.G384R	TBX19_ENST00000465440.1_3'UTR	NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	384					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)					ATTTCTCCTCGGAAACCCAGC	0.652													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19641	0.0		0.0	False		,,,				2504	0.0															0													70	62	65					1																	168282043		2203	4300	6503	SO:0001583	missense	9095			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.1150G>A	1.37:g.168282043G>A	ENSP00000356795:p.Gly384Arg		Q52M53	Missense_Mutation	SNP	ENST00000367821.3	37	CCDS1272.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.92|16.92	3.256719|3.256719	0.59321|0.59321	.|.	.|.	ENSG00000143178|ENSG00000143178	ENST00000367821;ENST00000367828|ENST00000431969;ENST00000441464	D|.	0.94537|.	-3.45|.	5.65|5.65	3.71|3.71	0.42584|0.42584	.|.	1.018940|.	0.07797|.	N|.	0.955850|.	T|T	0.43255|0.43255	0.1239|0.1239	M|M	0.70595|0.70595	2.14|2.14	.|.	.|.	.|.	P;P|.	0.51240|.	0.866;0.943|.	B;B|.	0.40982|.	0.239;0.345|.	T|T	0.47195|0.47195	-0.9136|-0.9136	9|4	0.26408|.	T|.	0.33|.	.|.	6.1328|6.1328	0.20215|0.20215	0.2943:0.0:0.7057:0.0|0.2943:0.0:0.7057:0.0	.|.	384;252|.	O60806;B3KRD9|.	TBX19_HUMAN;.|.	R|Q	384;261|253;216	ENSP00000356795:G384R|.	ENSP00000356795:G384R|.	G|R	+|+	1|2	0|0	TBX19|TBX19	166548667|166548667	0.998000|0.998000	0.40836|0.40836	0.421000|0.421000	0.26609|0.26609	0.467000|0.467000	0.32768|0.32768	1.330000|1.330000	0.33781|0.33781	1.299000|1.299000	0.44798|0.44798	0.655000|0.655000	0.94253|0.94253	GGA|CGG		0.652	TBX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083825.1	NM_005149		A	168282043	G	A	168282043	3	1	734	1	0	0	0	0	1	0	0	0	15659	1117	39	1	1180	1	TBX19	1	168282043	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1193356	168282043	80968578	75	41494											
C1orf114	57821	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	169391220	169391220	+	Missense_Mutation	SNP	C	C	T	rs376964448		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:169391220C>T	ENST00000367806.3	-	3	601	c.449G>A	c.(448-450)cGa>cAa	p.R150Q	CCDC181_ENST00000545005.1_Missense_Mutation_p.R150Q|CCDC181_ENST00000367805.3_Missense_Mutation_p.R150Q|CCDC181_ENST00000491570.1_5'UTR	NM_021179.1	NP_067002.1	Q5TID7	CC181_HUMAN	coiled-coil domain containing 181	150						nucleus (GO:0005634)											CTTAAGTTTTCGCTCCCTTTT	0.348																																																0								C	GLN/ARG	0,4406		0,0,2203	107	111	110		449	4.4	0.7	1		110	2,8598	2.2+/-6.3	0,2,4298	no	missense	C1orf114	NM_021179.1	43	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	150/509	169391220	2,13004	2203	4300	6503	SO:0001583	missense	57821			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.449G>A	1.37:g.169391220C>T	ENSP00000356780:p.Arg150Gln		O60780|Q53FD5|Q5TID9|Q8TC48	Missense_Mutation	SNP	ENST00000367806.3	37		.	.	.	.	.	.	.	.	.	.	C	23.0	4.365590	0.82463	0.0	2.33E-4	ENSG00000117477	ENST00000367805;ENST00000367806;ENST00000545005;ENST00000456107	T;T;T;T	0.61040	0.14;0.14;0.14;0.29	5.34	4.43	0.53597	.	0.000000	0.85682	D	0.000000	T	0.68146	0.2969	M	0.76002	2.32	0.41703	D	0.989414	P;D;D	0.89917	0.931;1.0;1.0	B;D;D	0.91635	0.291;0.999;0.999	T	0.75476	-0.3304	9	0.87932	D	0	-9.2924	13.8307	0.63380	0.0:0.9263:0.0:0.0737	.	150;150;150	Q5TID7-2;Q5TID7;Q5TID7-3	.;CA114_HUMAN;.	Q	150	ENSP00000356779:R150Q;ENSP00000356780:R150Q;ENSP00000442297:R150Q;ENSP00000411000:R150Q	ENSP00000356779:R150Q	R	-	2	0	C1orf114	167657844	0.415000	0.25416	0.669000	0.29828	0.974000	0.67602	6.057000	0.71119	1.249000	0.43950	0.563000	0.77884	CGA		0.348	CCDC181-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086099.1	NM_021179		T	169391220	C	T	169391220	3	4	734	1	0	0	0	0	1	0	0	0	1989	884	31	1	1093	1	C1orf114	1	169391220	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1109177	169391220	79859401	76	41495											
TOR3A	64222	ucsc.edu;mdanderson.org	37	1	179057117	179057117	+	Silent	SNP	G	G	A	rs12092348	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:179057117G>A	ENST00000367627.3	+	4	1463	c.711G>A	c.(709-711)gcG>gcA	p.A237A	TOR3A_ENST00000495145.1_3'UTR|TOR3A_ENST00000352445.6_Silent_p.A237A	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN	torsin family 3, member A	237					ATP catabolic process (GO:0006200)|chaperone mediated protein folding requiring cofactor (GO:0051085)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						TCGATGAAGCGGAGAAGCTGC	0.612													G|||	79	0.0157748	0.0552	0.0058	5008	,	,		16403	0.002		0.0	False		,,,				2504	0.0															0								G		229,4177	137.3+/-173.1	6,217,1980	68	74	72		711	-10.7	0	1	dbSNP_120	72	0,8600		0,0,4300	no	coding-synonymous	TOR3A	NM_022371.3		6,217,6280	AA,AG,GG		0.0,5.1975,1.7607		237/398	179057117	229,12777	2203	4300	6503	SO:0001819	synonymous_variant	64222			BC001085	CCDS1329.1	1q25.2	2008-02-05	2003-04-02		ENSG00000186283	ENSG00000186283			11997	protein-coding gene	gene with protein product		607555	"ATP-dependant interferon responsive"	ADIR		10644435	Standard	NM_022371		Approved	FLJ22345, ADIR2	uc001gmd.3	Q9H497	OTTHUMG00000035077	ENST00000367627.3:c.711G>A	1.37:g.179057117G>A			B4DSY0|B7ZB65|Q5M7Y7|Q8WVA7|Q8WWM2|Q9H495|Q9H6E7	Silent	SNP	ENST00000367627.3	37	CCDS1329.1																																																																																				0.612	TOR3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084927.1	NM_022371		A	179057117	G	A	179057117	2	1	734	1	0	0	0	0	0	0	0	1	16381	1103	39	1		1	TOR3A	1	179057117	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	9665897	179057117	70193504	77	41496											
C1orf125	126859	hgsc.bcm.edu	37	1	179494565	179494568	+	Frame_Shift_Del	DEL	AAAG	AAAG	-			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	AAAG	AAAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:179494565_179494568delAAAG	ENST00000367618.3	+	22	2980_2983	c.2593_2596delAAAG	c.(2593-2598)aaagagfs	p.KE865fs		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	865	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						GGAGGAAAATAAAGAGAGAGCAGA	0.358																																																0																																										SO:0001589	frameshift_variant	126859			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.2593_2596delAAAG	1.37:g.179494565_179494568delAAAG	ENSP00000356590:p.Lys865fs		Q6AWB2|Q96LJ3|Q96M01	Frame_Shift_Del	DEL	ENST00000367618.3	37	CCDS30948.1																																																																																				0.358	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696		-	179494568	AAAG	-	179494565	7	5	734	1	0	1	0	1	0	0	0	0	1995	363	13	0	2675	0	C1orf125	1	179494565	Frame_Shift_Del	DEL	AAAG	TCGA-KN-8428-01A-11D-2310-10	437448	179494565	69756056	78	41497	386	2									
C1orf125	126859	bcgsc.ca	37	1	179494566	179494569	+	Frame_Shift_Del	DEL	AAAG	AAAG	-			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	AAAG	AAAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:179494566_179494569delAAAG	ENST00000367618.3	+	22	2981_2984	c.2594_2597delAAAG	c.(2593-2598)aaaaggfs	p.KR865fs		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	865	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						GAGGAAAATAAAGAGAGAGCAGAA	0.358																																																0																																										SO:0001589	frameshift_variant	126859			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.2594_2597delAAAG	1.37:g.179494566_179494569delAAAG	ENSP00000356590:p.Lys865fs		Q6AWB2|Q96LJ3|Q96M01	Frame_Shift_Del	DEL	ENST00000367618.3	37	CCDS30948.1																																																																																				0.358	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696		-	179494569	AAAG	-	179494566	7	5	734	1	0	1	0	1	0	0	0	0	1995	14	1	0	2676	0	C1orf125	1	179494566	Frame_Shift_Del	DEL	AAAG	TCGA-KN-8428-01A-11D-2310-10	1	179494566	69756055	79	41498	386	2									
QSOX1	5768	broad.mit.edu;hgsc.bcm.edu	37	1	180135639	180135639	+	Silent	SNP	C	C	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:180135639C>A	ENST00000367602.3	+	2	353	c.279C>A	c.(277-279)gcC>gcA	p.A93A	QSOX1_ENST00000367600.5_Silent_p.A93A			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	93	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)	flavin-linked sulfhydryl oxidase activity (GO:0016971)|protein disulfide isomerase activity (GO:0003756)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						GGAGGCCGGCCCTGTATCTCG	0.592																																																0													76	72	73					1																	180135639		2203	4300	6503	SO:0001819	synonymous_variant	5768			U97276	CCDS1337.1, CCDS30950.1	1q24	2008-02-05	2007-04-23	2007-04-23	ENSG00000116260	ENSG00000116260			9756	protein-coding gene	gene with protein product		603120	"quiescin Q6"	QSCN6		9878249, 8396966	Standard	NM_002826		Approved		uc001gnz.3	O00391	OTTHUMG00000035256	ENST00000367602.3:c.279C>A	1.37:g.180135639C>A			Q59G29|Q5T2X0|Q8TDL6|Q8WVP4	Silent	SNP	ENST00000367602.3	37	CCDS1337.1																																																																																				0.592	QSOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085289.1	NM_002826		A	180135639	C	A	180135639	2	1	734	1	0	0	0	0	0	0	0	1	12889	610	22	4		4	QSOX1	1	180135639	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	641073	180135639	69114982	80	41499											
TPR	7175	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	186289518	186289518	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:186289518C>T	ENST00000367478.4	-	46	6790	c.6494G>A	c.(6493-6495)cGg>cAg	p.R2165Q		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	2165					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)		TGGCCCAAACCGGAATCTAGG	0.403			T	NTRK1	papillary thyroid																																		Dom	yes		1	1q25	7175	translocated promoter region		E	0													82	74	77					1																	186289518		1856	4088	5944	SO:0001583	missense	7175			U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"translocated promoter region (to activated MET oncogene)"			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.6494G>A	1.37:g.186289518C>T	ENSP00000356448:p.Arg2165Gln		Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	C	35	5.541373	0.96474	.	.	ENSG00000047410	ENST00000367478	T	0.26067	1.76	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.47764	0.1463	M	0.71581	2.175	0.58432	D	0.999996	D	0.76494	0.999	P	0.56751	0.805	T	0.50268	-0.8848	10	0.87932	D	0	.	19.2507	0.93923	0.0:1.0:0.0:0.0	.	2165	P12270	TPR_HUMAN	Q	2165	ENSP00000356448:R2165Q	ENSP00000356448:R2165Q	R	-	2	0	TPR	184556141	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	6.924000	0.75823	2.538000	0.85594	0.563000	0.77884	CGG		0.403	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		T	186289518	C	T	186289518	3	4	734	1	0	0	0	0	1	0	0	0	16421	652	23	1	621	1	TPR	1	186289518	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	6153879	186289518	62961103	81	41500											
CACNA1S	779	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	201029943	201029943	+	Splice_Site	SNP	C	C	T	rs1800559		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:201029943C>T	ENST00000362061.3	-	26	3483	c.3257G>A	c.(3256-3258)cGc>cAc	p.R1086H	CACNA1S_ENST00000367338.3_Splice_Site_p.R1086H	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1086			R -> H (in MHS5; dbSNP:rs1800559). {ECO:0000269|PubMed:9199552}.		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)	p.R1086H(1)		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)	TACACATTGGCGCTGTGACAC	0.562																																																1	Substitution - Missense(1)	large_intestine(1)	GRCh37	CM970210	CACNA1S	M	rs1800559						211	204	206					1																	201029943		2203	4300	6503	SO:0001630	splice_region_variant	779			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.3256-1G>A	1.37:g.201029943C>T			A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.044776	0.55110	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.96885	-4.16;-4.08	5.17	4.26	0.50523	.	0.152379	0.64402	D	0.000015	D	0.98460	0.9487	M	0.93638	3.44	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.99342	1.0912	10	0.87932	D	0	.	13.6178	0.62120	0.0:0.9234:0.0:0.0766	rs1800559;rs28931587	1086	Q13698	CAC1S_HUMAN	H	1086	ENSP00000355192:R1086H;ENSP00000356307:R1086H	ENSP00000355192:R1086H	R	-	2	0	CACNA1S	199296566	1.000000	0.71417	1.000000	0.80357	0.031000	0.12232	7.774000	0.85478	1.297000	0.44761	-0.136000	0.14681	CGC		0.562	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069	Missense_Mutation	T	201029943	C	T	201029943	5	4	734	1	0	0	0	0	0	0	1	0	2549	782	27	1	2440	1	CACNA1S	1	201029943	Splice_Site	SNP	C	TCGA-KN-8428-01A-11D-2310-10	14740425	201029943	48220678	82	41501											
CACNA1S	779	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	1	201060823	201060823	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:201060823G>A	ENST00000362061.3	-	5	865	c.639C>T	c.(637-639)atC>atT	p.I213I	CACNA1S_ENST00000367338.3_Silent_p.I213I	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	213					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)	GCTCCAGCCCGATGATGGCAT	0.567																																																0													115	99	105					1																	201060823		2203	4300	6503	SO:0001819	synonymous_variant	779			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.639C>T	1.37:g.201060823G>A			A4IF51|B1ALM2|Q12896|Q13934	Silent	SNP	ENST00000362061.3	37	CCDS1407.1																																																																																				0.567	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		A	201060823	G	A	201060823	2	1	734	1	0	0	0	0	0	0	0	1	2549	1048	37	1		1	CACNA1S	1	201060823	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	30880	201060823	48189798	83	41502											
CNTN2	6900	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	205041226	205041226	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:205041226C>T	ENST00000331830.4	+	20	2980	c.2696C>T	c.(2695-2697)gCc>gTc	p.A899V		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	899	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ACTGGGCCTGCCAGCCCTTCT	0.627																																					Melanoma(183;2548 2817 37099 41192)											0													79	81	80					1																	205041226		2203	4300	6503	SO:0001583	missense	6900			X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.2696C>T	1.37:g.205041226C>T	ENSP00000330633:p.Ala899Val		P78432|Q5T054	Missense_Mutation	SNP	ENST00000331830.4	37	CCDS1449.1	.	.	.	.	.	.	.	.	.	.	c	35	5.582083	0.96578	.	.	ENSG00000184144	ENST00000331830	T	0.17370	2.28	5.69	5.69	0.88448	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.292700	0.24087	U	0.041661	T	0.36663	0.0975	L	0.58583	1.82	0.40376	D	0.97939	B;D	0.54207	0.277;0.965	P;P	0.59221	0.474;0.854	T	0.01188	-1.1424	10	0.38643	T	0.18	.	19.4013	0.94630	0.0:1.0:0.0:0.0	.	899;790	Q02246;Q68DA2	CNTN2_HUMAN;.	V	899	ENSP00000330633:A899V	ENSP00000330633:A899V	A	+	2	0	CNTN2	203307849	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.768000	0.85345	2.683000	0.91414	0.651000	0.88453	GCC		0.627	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3	NM_005076		T	205041226	C	T	205041226	3	4	734	1	0	0	0	0	1	0	0	0	3643	739	26	2	2770	2	CNTN2	1	205041226	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	3980403	205041226	44209395	84	41503											
PLXNA2	5362	broad.mit.edu;bcgsc.ca	37	1	208383788	208383788	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:208383788T>C	ENST00000367033.3	-	3	1965	c.1208A>G	c.(1207-1209)aAc>aGc	p.N403S		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	403	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TCCACAGAAGTTATCATCGAT	0.577																																																0													65	57	60					1																	208383788		2203	4300	6503	SO:0001583	missense	5362			X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"Plexins"	9100	protein-coding gene	gene with protein product	"plexin 2", "plexin-A2", "semaphorin receptor OCT", "transmembrane protein OCT"	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.1208A>G	1.37:g.208383788T>C	ENSP00000356000:p.Asn403Ser		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	T	14.21	2.466119	0.43839	.	.	ENSG00000076356	ENST00000367033	T	0.10860	2.83	5.53	3.19	0.36642	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.341026	0.31909	N	0.006873	T	0.07728	0.0194	L	0.33485	1.01	0.36246	D	0.853606	B;B	0.11235	0.004;0.002	B;B	0.11329	0.006;0.002	T	0.15809	-1.0424	10	0.42905	T	0.14	.	5.3898	0.16237	0.0:0.1449:0.1517:0.7034	.	457;403	O75051-2;O75051	.;PLXA2_HUMAN	S	403	ENSP00000356000:N403S	ENSP00000356000:N403S	N	-	2	0	PLXNA2	206450411	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	1.567000	0.36407	0.903000	0.36546	0.533000	0.62120	AAC		0.577	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		C	208383788	T	C	208383788	3	2	734	1	0	0	0	0	1	0	0	0	12122	1725	60	3	4596	3	PLXNA2	1	208383788	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	3342562	208383788	40866833	85	41504											
CDC42BPA	8476	ucsc.edu;bcgsc.ca	37	1	227504801	227504801	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:227504801A>G	ENST00000366769.3	-	1	1374	c.83T>C	c.(82-84)gTg>gCg	p.V28A	CDC42BPA_ENST00000334218.5_Missense_Mutation_p.V28A|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.V28A|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.V28A|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.V28A|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.V28A|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.V28A	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)				TAATGTCTCCACACTGAAGCA	0.448																																																0													133	119	124					1																	227504801		2203	4300	6503	SO:0001583	missense	8476			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.83T>C	1.37:g.227504801A>G	ENSP00000355731:p.Val28Ala			Missense_Mutation	SNP	ENST00000366769.3	37	CCDS1558.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.659730	0.88154	.	.	ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000535525;ENST00000366765	T;T;T;T;T;T;T	0.68025	-0.28;-0.22;-0.3;-0.29;-0.3;-0.26;-0.3	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.74504	0.3725	M	0.79475	2.455	0.58432	D	0.999993	P;P;P;P	0.46578	0.878;0.84;0.801;0.88	P;P;B;P	0.49301	0.584;0.538;0.428;0.606	T	0.77920	-0.2407	10	0.51188	T	0.08	.	14.6849	0.69042	1.0:0.0:0.0:0.0	.	28;28;28;28	F5H5N0;Q5VT25-4;Q5VT25-3;Q5VT25-5	.;.;.;.	A	28	ENSP00000355731:V28A;ENSP00000355729:V28A;ENSP00000335341:V28A;ENSP00000355728:V28A;ENSP00000355726:V28A;ENSP00000443275:V28A;ENSP00000355727:V28A	ENSP00000335341:V28A	V	-	2	0	CDC42BPA	225571424	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.880000	0.92407	1.932000	0.55993	0.460000	0.39030	GTG		0.448	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826		G	227504801	A	G	227504801	3	3	734	1	0	0	0	0	1	0	0	0	3074	159	6	3	5220	3	CDC42BPA	1	227504801	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	19121013	227504801	21745820	86	41505											
JMJD4	65094	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	1	227921193	227921193	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:227921193G>A	ENST00000366758.3	-	4	881	c.882C>T	c.(880-882)ggC>ggT	p.G294G	SNAP47_ENST00000480897.1_3'UTR|SNAP47_ENST00000366759.4_5'Flank|SNAP47_ENST00000366760.1_Intron|JMJD4_ENST00000438896.2_Silent_p.G294G|SNAP47_ENST00000315781.5_5'Flank|JMJD4_ENST00000485807.1_5'UTR	NM_023007.2	NP_075383.2	Q9H9V9	JMJD4_HUMAN	jumonji domain containing 4	294	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.									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)				CCAAGGGTGGGCCAGCAAGCT	0.642																																																0													69	55	60					1																	227921193		2201	4300	6501	SO:0001819	synonymous_variant	65094			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.882C>T	1.37:g.227921193G>A			Q5TBZ1|Q5TBZ6|Q9H970	Silent	SNP	ENST00000366758.3	37	CCDS1561.1	.	.	.	.	.	.	.	.	.	.	.	1.828	-0.470611	0.04445	.	.	ENSG00000081692	ENST00000438896	.	.	.	4.5	1.43	0.22495	.	.	.	.	.	T	0.51193	0.1660	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39941	-0.9589	4	.	.	.	-14.187	4.7081	0.12860	0.2132:0.0:0.612:0.1748	.	.	.	.	V	287	.	.	A	-	2	0	JMJD4	225987816	1.000000	0.71417	0.031000	0.17742	0.214000	0.24535	0.895000	0.28363	0.554000	0.29061	0.655000	0.94253	GCC		0.642	JMJD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091970.1	NM_023007		A	227921193	G	A	227921193	2	1	734	1	0	0	0	0	0	0	0	1	7953	1190	42	2		2	JMJD4	1	227921193	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	416392	227921193	21329428	87	41506											
TARBP1	6894	broad.mit.edu	37	1	234527364	234527364	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:234527364T>C	ENST00000040877.1	-	30	4824	c.4825A>G	c.(4825-4827)Acc>Gcc	p.T1609A	TARBP1_ENST00000483404.1_5'UTR	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1609					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)			TGCTGCCTGGTGTACTCCCAG	0.488																																																0													64	55	58					1																	234527364		2203	4300	6503	SO:0001583	missense	6894				CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"tRNA methyltransferase 3 homolog (S. cerevisiae)"	605052	"Tar (HIV-1) RNA binding protein 1"			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.4825A>G	1.37:g.234527364T>C	ENSP00000040877:p.Thr1609Ala		Q9H581	Missense_Mutation	SNP	ENST00000040877.1	37	CCDS1601.1	.	.	.	.	.	.	.	.	.	.	T	10.41	1.342560	0.24339	.	.	ENSG00000059588	ENST00000040877	T	0.28454	1.61	5.47	4.34	0.51931	.	0.056427	0.64402	N	0.000001	T	0.19446	0.0467	N	0.21448	0.665	0.58432	D	0.999999	B	0.30193	0.272	B	0.22386	0.039	T	0.03717	-1.1010	10	0.39692	T	0.17	-15.7136	11.2194	0.48846	0.0:0.0722:0.0:0.9278	.	1609	Q13395	TARB1_HUMAN	A	1609	ENSP00000040877:T1609A	ENSP00000040877:T1609A	T	-	1	0	TARBP1	232593987	1.000000	0.71417	0.352000	0.25734	0.253000	0.25986	5.114000	0.64648	0.916000	0.36871	0.482000	0.46254	ACC		0.488	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646		C	234527364	T	C	234527364	3	2	734	1	0	0	0	0	1	0	0	0	15560	1696	59	3	44	3	TARBP1	1	234527364	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	6606171	234527364	14723257	88	41507											
HEATR1	55127	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	1	236762781	236762781	+	Splice_Site	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:236762781A>G	ENST00000366582.3	-	4	616		c.e4+1		HEATR1_ENST00000483073.1_Splice_Site|HEATR1_ENST00000366581.2_Splice_Site	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1						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)			CAGCAATTATACCTTAACTGG	0.353																																																0													83	80	81					1																	236762781		2203	4300	6503	SO:0001630	splice_region_variant	55127			BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"UTP10, small subunit (SSU) processome component, homolog (yeast)"					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.501+1T>C	1.37:g.236762781A>G			Q5T3Q8|Q6P197|Q9NW23	Splice_Site	SNP	ENST00000366582.3	37	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	A	14.85	2.658177	0.47467	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5903	0.76523	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HEATR1	234829404	1.000000	0.71417	0.994000	0.49952	0.558000	0.35554	7.087000	0.76893	2.128000	0.65567	0.459000	0.35465	.		0.353	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853	Intron	G	236762781	A	G	236762781	5	3	734	1	0	0	0	0	0	0	1	0	7029	405	14	3	6099	3	HEATR1	1	236762781	Splice_Site	SNP	A	TCGA-KN-8428-01A-11D-2310-10	2235417	236762781	12487840	89	41508											
NLRP3	114548	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	247587215	247587215	+	Missense_Mutation	SNP	G	G	A	rs533920557		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:247587215G>A	ENST00000336119.3	+	3	1216	c.470G>A	c.(469-471)cGt>cAt	p.R157H	NLRP3_ENST00000366497.2_Missense_Mutation_p.R157H|NLRP3_ENST00000391827.2_Missense_Mutation_p.R157H|NLRP3_ENST00000348069.2_Missense_Mutation_p.R157H|NLRP3_ENST00000366496.2_Missense_Mutation_p.R157H|NLRP3_ENST00000391828.3_Missense_Mutation_p.R157H|NLRP3_ENST00000474792.1_3'UTR	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	157					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)	p.R157H(2)		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)			AGGAATGCCCGTCTGGGTGAG	0.522													G|||	1	0.000199681	0.0	0.0	5008	,	,		21031	0.001		0.0	False		,,,				2504	0.0															2	Substitution - Missense(2)	prostate(1)|endometrium(1)											95	75	82					1																	247587215		2203	4300	6503	SO:0001583	missense	114548			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.470G>A	1.37:g.247587215G>A	ENSP00000337383:p.Arg157His		B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.359037	0.61403	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	D;D;D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48;-2.48;-2.48	4.27	4.27	0.50696	.	0.000000	0.51477	D	0.000081	D	0.92319	0.7563	M	0.71206	2.165	0.33532	D	0.593746	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.997;0.958	D;D;D;D;P	0.97110	0.917;0.975;1.0;0.924;0.585	D	0.90744	0.4652	10	0.15066	T	0.55	.	12.5127	0.56015	0.0:0.0:1.0:0.0	.	157;157;157;157;157	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	H	157	ENSP00000375704:R157H;ENSP00000355453:R157H;ENSP00000337383:R157H;ENSP00000294752:R157H;ENSP00000355452:R157H;ENSP00000375703:R157H	ENSP00000337383:R157H	R	+	2	0	NLRP3	245653838	0.043000	0.20138	0.997000	0.53966	0.916000	0.54674	2.089000	0.41672	2.669000	0.90835	0.655000	0.94253	CGT		0.522	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		A	247587215	G	A	247587215	3	1	734	1	0	0	0	0	1	0	0	0	10480	1145	40	1	480	1	NLRP3	1	247587215	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	10824434	247587215	1663406	90	41509											
TRIM58	25893	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	1	248031300	248031300	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:248031300T>C	ENST00000366481.3	+	5	854	c.806T>C	c.(805-807)aTc>aCc	p.I269T	OR2W3_ENST00000537741.1_5'UTR	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	269						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)			GCAGAGAACATCCCCATGGAA	0.532																																																0													103	94	97					1																	248031300		2203	4300	6503	SO:0001583	missense	25893			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.806T>C	1.37:g.248031300T>C	ENSP00000355437:p.Ile269Thr		Q6B0H9	Missense_Mutation	SNP	ENST00000366481.3	37	CCDS1636.1	.	.	.	.	.	.	.	.	.	.	T	3.105	-0.183845	0.06340	.	.	ENSG00000162722	ENST00000366481	T	0.05996	3.36	5.12	3.98	0.46160	.	0.359505	0.23849	N	0.043970	T	0.05640	0.0148	L	0.38692	1.165	0.22401	N	0.999132	B	0.14438	0.01	B	0.12156	0.007	T	0.34925	-0.9809	10	0.30078	T	0.28	.	7.9931	0.30252	0.0:0.0946:0.0:0.9054	.	269	Q8NG06	TRI58_HUMAN	T	269	ENSP00000355437:I269T	ENSP00000355437:I269T	I	+	2	0	TRIM58	246097923	0.005000	0.15991	0.006000	0.13384	0.059000	0.15707	1.574000	0.36482	1.039000	0.40074	0.533000	0.62120	ATC		0.532	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	NM_015431		C	248031300	T	C	248031300	3	2	734	1	0	0	0	0	1	0	0	0	16536	1435	50	3	824	3	TRIM58	1	248031300	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	444085	248031300	1219321	91	41510											
OR2M3	127062	broad.mit.edu;bcgsc.ca	37	1	248366613	248366613	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:248366613G>A	ENST00000456743.1	+	1	282	c.244G>A	c.(244-246)Gcc>Acc	p.A82T		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	82						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)			ACCCAAGATGGCCTTCAACTA	0.512																																																0													270	262	265					1																	248366613		2203	4297	6500	SO:0001583	missense	127062				CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"GPCR / Class A : Olfactory receptors"	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.244G>A	1.37:g.248366613G>A	ENSP00000389625:p.Ala82Thr		B9EH06|Q6IEY0	Missense_Mutation	SNP	ENST00000456743.1	37	CCDS31107.1	.	.	.	.	.	.	.	.	.	.	G	10.21	1.287757	0.23478	.	.	ENSG00000228198	ENST00000456743	T	0.00325	8.1	2.44	-1.56	0.08532	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31976	U	0.006763	T	0.00178	0.0005	M	0.64170	1.965	0.09310	N	1	B	0.19706	0.038	B	0.27715	0.082	T	0.50083	-0.8869	10	0.34782	T	0.22	.	0.0794	0.00030	0.296:0.166:0.2028:0.3352	.	82	Q8NG83	OR2M3_HUMAN	T	82	ENSP00000389625:A82T	ENSP00000389625:A82T	A	+	1	0	OR2M3	246433236	0.000000	0.05858	0.001000	0.08648	0.251000	0.25915	-2.471000	0.00990	-0.058000	0.13177	-0.491000	0.04670	GCC		0.512	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689		A	248366613	G	A	248366613	3	1	734	1	0	0	0	0	1	0	0	0	11013	1203	42	2	246	2	OR2M3	1	248366613	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	335313	248366613	884008	92	41511											
PGBD2	267002	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	249211775	249211775	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:249211775T>C	ENST00000329291.5	+	3	1139	c.992T>C	c.(991-993)gTa>gCa	p.V331A	PGBD2_ENST00000539153.1_Missense_Mutation_p.V328A|PGBD2_ENST00000355360.4_Missense_Mutation_p.V80A	NM_170725.2	NP_733843.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	331										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	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;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GGCAGTATGGTAATAAAATTT	0.458																																																0													126	129	128					1																	249211775		2203	4300	6503	SO:0001583	missense	267002			AF229602	CCDS31128.1, CCDS31129.1	1q	2008-02-05			ENSG00000185220	ENSG00000185220			19399	protein-coding gene	gene with protein product							Standard	XM_005270333		Approved		uc001ifh.3	Q6P3X8	OTTHUMG00000040424	ENST00000329291.5:c.992T>C	1.37:g.249211775T>C	ENSP00000331643:p.Val331Ala		B3KVR8|Q6MZF8	Missense_Mutation	SNP	ENST00000329291.5	37	CCDS31128.1	.	.	.	.	.	.	.	.	.	.	T	15.47	2.842924	0.51057	.	.	ENSG00000185220	ENST00000355360;ENST00000329291;ENST00000539153	T;T;T	0.25085	1.82;1.82;1.82	3.91	3.91	0.45181	.	0.126959	0.32578	N	0.005910	T	0.48840	0.1522	M	0.80616	2.505	0.29977	N	0.818056	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.994	T	0.49943	-0.8885	10	0.49607	T	0.09	-17.4516	9.3396	0.38071	0.0:0.0:0.0:1.0	.	328;331	F5H4U7;Q6P3X8	.;PGBD2_HUMAN	A	80;331;328	ENSP00000355424:V80A;ENSP00000331643:V331A;ENSP00000439950:V328A	ENSP00000331643:V331A	V	+	2	0	PGBD2	247178398	1.000000	0.71417	0.630000	0.29268	0.660000	0.38997	3.412000	0.52679	1.765000	0.52091	0.460000	0.39030	GTA		0.458	PGBD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097318.1			C	249211775	T	C	249211775	3	2	734	1	0	0	0	0	1	0	0	0	11783	1638	57	3	998	3	PGBD2	1	249211775	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	845162	249211775	38846	93	41512											
MYT1L	23040	hgsc.bcm.edu;mdanderson.org	37	2	1896005	1896005	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:1896005G>A	ENST00000399161.2	-	15	2834	c.2087C>T	c.(2086-2088)gCg>gTg	p.A696V	MYT1L_ENST00000428368.2_Missense_Mutation_p.A694V	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	696	Ser-rich.				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)		gctgctgggcgcgtagctgct	0.692																																																0													9	17	14					2																	1896005		1695	3114	4809	SO:0001583	missense	23040			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"Zinc fingers, C2HC-type containing"	7623	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 1"	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.2087C>T	2.37:g.1896005G>A	ENSP00000382114:p.Ala696Val		A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37		.	.	.	.	.	.	.	.	.	.	G	17.50	3.403971	0.62288	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.36878	1.23;1.23	4.93	4.93	0.64822	Myelin transcription factor 1 (1);	0.769532	0.12417	N	0.470758	T	0.38585	0.1046	M	0.62723	1.935	0.58432	D	0.999998	B;B	0.29115	0.233;0.098	B;B	0.15484	0.013;0.008	T	0.23619	-1.0183	10	0.32370	T	0.25	-8.1458	18.1375	0.89624	0.0:0.0:1.0:0.0	.	696;694	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	V	696;642;694	ENSP00000382114:A696V;ENSP00000396103:A694V	ENSP00000295067:A642V	A	-	2	0	MYT1L	1875012	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.236000	0.78154	2.298000	0.77334	0.467000	0.42956	GCG		0.692	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		A	1896005	G	A	1896005	3	1	734	1	0	0	0	0	1	0	0	0	10109	1087	38	1	1517	1	MYT1L	2	1896005	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10		1896005	241303368	94	41513											
NT5C1B	93034	ucsc.edu;mdanderson.org	37	2	18745215	18745215	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:18745215G>A	ENST00000359846.2	-	10	1757	c.1680C>T	c.(1678-1680)gaC>gaT	p.D560D	NT5C1B_ENST00000600945.1_Silent_p.D560D|NT5C1B_ENST00000304081.4_Silent_p.D500D|NT5C1B-RDH14_ENST00000532967.1_Silent_p.D560D	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	560					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)				AAAGAGCTTCGTCTATCTCTA	0.537																																																0													83	83	83					2																	18745215		2203	4300	6503	SO:0001819	synonymous_variant	93034			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.1680C>T	2.37:g.18745215G>A			B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Silent	SNP	ENST00000359846.2	37	CCDS33150.1	.	.	.	.	.	.	.	.	.	.	G	10.18	1.278623	0.23307	.	.	ENSG00000185013	ENST00000418427	.	.	.	6.16	-2.76	0.05896	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-32.4387	13.609	0.62065	0.6484:0.0:0.3516:0.0	.	.	.	.	X	215	.	.	R	-	1	2	NT5C1B	18608696	0.853000	0.29707	0.986000	0.45419	0.998000	0.95712	-0.017000	0.12590	-0.319000	0.08652	0.650000	0.86243	CGA		0.537	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323822.1			A	18745215	G	A	18745215	2	1	734	1	0	0	0	0	0	0	0	1	10688	1136	40	1		1	NT5C1B	2	18745215	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	16849210	18745215	224454158	95	41514											
GDF7	151449	broad.mit.edu	37	2	20871061	20871061	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:20871061C>T	ENST00000272224.3	+	2	1805	c.1229C>T	c.(1228-1230)gCg>gTg	p.A410V		NM_182828.2	NP_878248.2	Q7Z4P5	GDF7_HUMAN	growth differentiation factor 7	410					activin receptor signaling pathway (GO:0032924)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|branching morphogenesis of an epithelial tube (GO:0048754)|cell fate commitment (GO:0045165)|epithelial cell differentiation (GO:0030855)|forebrain morphogenesis (GO:0048853)|gland morphogenesis (GO:0022612)|growth (GO:0040007)|midbrain development (GO:0030901)|morphogenesis of an epithelial fold (GO:0060571)|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 tendon cell differentiation (GO:2001051)|positive regulation of transcription, DNA-templated (GO:0045893)|reproductive structure development (GO:0048608)|roof plate formation (GO:0021509)|spinal cord association neuron differentiation (GO:0021527)	extracellular space (GO:0005615)				breast(1)|cervix(1)|endometrium(2)|lung(1)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAGACGCGGCGCCGGCCTCC	0.612																																																0													65	58	60					2																	20871061		2203	4300	6503	SO:0001583	missense	151449			AF522369	CCDS1701.1	2p24.1	2008-05-22			ENSG00000143869	ENSG00000143869			4222	protein-coding gene	gene with protein product		604651				10022976, 9808626	Standard	NM_182828		Approved	BMP12	uc002rdz.1	Q7Z4P5	OTTHUMG00000090781	ENST00000272224.3:c.1229C>T	2.37:g.20871061C>T	ENSP00000272224:p.Ala410Val			Missense_Mutation	SNP	ENST00000272224.3	37	CCDS1701.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.827491	0.90955	.	.	ENSG00000143869	ENST00000272224	T	0.61742	0.08	4.05	4.05	0.47172	Transforming growth factor-beta, C-terminal (3);	0.105770	0.39341	U	0.001385	T	0.26810	0.0656	N	0.00424	-1.51	0.37148	D	0.902031	P	0.51147	0.942	B	0.41691	0.364	T	0.57323	-0.7831	10	0.51188	T	0.08	.	16.7259	0.85421	0.0:1.0:0.0:0.0	.	410	Q7Z4P5	GDF7_HUMAN	V	410	ENSP00000272224:A410V	ENSP00000272224:A410V	A	+	2	0	GDF7	20734542	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.781000	0.62389	2.187000	0.69744	0.561000	0.74099	GCG		0.612	GDF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207563.2	NM_182828		T	20871061	C	T	20871061	3	4	734	1	0	0	0	0	1	0	0	0	6320	768	27	1	1235	1	GDF7	2	20871061	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	2125846	20871061	222328312	96	41515											
DTNB	1838	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	2	25799755	25799755	+	Silent	SNP	G	G	A	rs373794202		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:25799755G>A	ENST00000406818.3	-	8	1077	c.828C>T	c.(826-828)gcC>gcT	p.A276A	DTNB_ENST00000404103.3_Silent_p.A276A|DTNB_ENST00000407038.3_Silent_p.A276A|DTNB_ENST00000407186.1_Silent_p.A276A|DTNB_ENST00000407661.3_Silent_p.A276A|DTNB_ENST00000545439.1_Silent_p.A72A|DTNB_ENST00000288642.8_Silent_p.A276A|DTNB_ENST00000405222.1_Silent_p.A276A|DTNB_ENST00000496972.2_Silent_p.A219A|DTNB_ENST00000472690.1_5'UTR	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	276						cytoplasm (GO:0005737)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGGGCCGCCGGCATGGCCAC	0.527																																																0								G	,,,,	0,4258		0,0,2129	46	51	49		828,828,828,828,828	4.9	1	2		49	2,8522		0,2,4260	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DTNB	NM_021907.3,NM_033147.2,NM_033148.2,NM_183360.1,NM_183361.1	,,,,	0,2,6389	AA,AG,GG		0.0235,0.0,0.0156	,,,,	276/628,276/598,276/568,276/610,276/561	25799755	2,12780	2129	4262	6391	SO:0001819	synonymous_variant	1838			AF022728	CCDS46233.1, CCDS46234.1, CCDS46235.1, CCDS46236.1, CCDS46237.1, CCDS58702.1, CCDS74496.1	2p23.2	2008-05-15			ENSG00000138101	ENSG00000138101			3058	protein-coding gene	gene with protein product		602415				9419360	Standard	NM_021907		Approved		uc002rgh.4	O60941	OTTHUMG00000152129	ENST00000406818.3:c.828C>T	2.37:g.25799755G>A			B7Z733|F5GZG4|G5E9F6|O43782|O60881|O75538|Q86VR4|Q96AW0|Q9UE14|Q9UE15|Q9UE16	Silent	SNP	ENST00000406818.3	37	CCDS46237.1																																																																																				0.527	DTNB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325361.1	NM_033147		A	25799755	G	A	25799755	2	1	734	1	0	0	0	0	0	0	0	1	4791	1103	39	1		1	DTNB	2	25799755	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	4928694	25799755	217399618	97	41516											
C2orf16	84226	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	2	27802448	27802448	+	Silent	SNP	G	G	A	rs370553692		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:27802448G>A	ENST00000408964.2	+	1	3060	c.3009G>A	c.(3007-3009)acG>acA	p.T1003T	AC074091.1_ENST00000408604.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1003						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)					CAAACTCAACGTTCAATGGTA	0.443													G|||	1	0.000199681	0.0	0.0	5008	,	,		20637	0.001		0.0	False		,,,				2504	0.0															0								G		0,4088		0,0,2044	102	100	101		3009	2.1	0	2		101	1,8401		0,1,4200	no	coding-synonymous	C2orf16	NM_032266.3		0,1,6244	AA,AG,GG		0.0119,0.0,0.0080		1003/1985	27802448	1,12489	2044	4201	6245	SO:0001819	synonymous_variant	84226			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.3009G>A	2.37:g.27802448G>A			B9EIQ4|Q53S01|Q8ND64|Q9H088	Silent	SNP	ENST00000408964.2	37	CCDS42666.1																																																																																				0.443	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		A	27802448	G	A	27802448	2	1	734	1	0	0	0	0	0	0	0	1	2159	1132	40	1		1	C2orf16	2	27802448	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	2002693	27802448	215396925	98	41517											
EHD3	30845	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	31484520	31484520	+	Missense_Mutation	SNP	C	C	T	rs370790409		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:31484520C>T	ENST00000322054.5	+	5	1306	c.1021C>T	c.(1021-1023)Cgg>Tgg	p.R341W	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	341					blood coagulation (GO:0007596)|endocytic recycling (GO:0032456)|protein homooligomerization (GO:0051260)|protein targeting to plasma membrane (GO:0072661)|regulation of cardiac muscle cell membrane potential (GO:0086036)	cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					GATCTATGGCCGGATCGAGCG	0.572																																																0								C	TRP/ARG	0,4406		0,0,2203	129	123	125		1021	4.1	0.7	2		125	1,8599	1.2+/-3.3	0,1,4299	no	missense	EHD3	NM_014600.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	341/536	31484520	1,13005	2203	4300	6503	SO:0001583	missense	30845			AF181264	CCDS1774.1	2p21	2013-01-10			ENSG00000013016	ENSG00000013016		"EF-hand domain containing"	3244	protein-coding gene	gene with protein product		605891		PAST3		10673336	Standard	NM_014600		Approved		uc002rnu.3	Q9NZN3	OTTHUMG00000099365	ENST00000322054.5:c.1021C>T	2.37:g.31484520C>T	ENSP00000327116:p.Arg341Trp		B4DFR5|D6W574|Q8N514|Q9NZB3	Missense_Mutation	SNP	ENST00000322054.5	37	CCDS1774.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.437362	0.62955	0.0	1.16E-4	ENSG00000013016	ENST00000322054	T	0.18174	2.23	6.04	4.08	0.47627	.	0.093728	0.64402	D	0.000001	T	0.24314	0.0589	M	0.65498	2.005	0.80722	D	1	D	0.57899	0.981	P	0.44860	0.462	T	0.06826	-1.0805	10	0.87932	D	0	-22.374	15.4034	0.74858	0.2293:0.7707:0.0:0.0	.	341	Q9NZN3	EHD3_HUMAN	W	341	ENSP00000327116:R341W	ENSP00000327116:R341W	R	+	1	2	EHD3	31338024	1.000000	0.71417	0.730000	0.30809	0.107000	0.19398	3.007000	0.49536	2.873000	0.98535	0.561000	0.74099	CGG		0.572	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216810.1	NM_014600		T	31484520	C	T	31484520	3	4	734	1	0	0	0	0	1	0	0	0	4981	643	23	1	1039	1	EHD3	2	31484520	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	3682072	31484520	211714853	99	41518											
BIRC6	57448	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	32713733	32713733	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:32713733A>G	ENST00000421745.2	+	42	8181	c.8047A>G	c.(8047-8049)Ata>Gta	p.I2683V		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2683					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)					TGGAGCAGACATATTTTTATA	0.318																																					Pancreas(94;175 1509 16028 18060 45422)											0													19	18	18					2																	32713733		2126	4166	6292	SO:0001583	missense	57448			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"Baculoviral IAP repeat containing", "Ubiquitin-conjugating enzymes E2"	13516	protein-coding gene	gene with protein product	"apollon"	605638	"baculoviral IAP repeat-containing 6"			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.8047A>G	2.37:g.32713733A>G	ENSP00000393596:p.Ile2683Val		Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	A	15.17	2.753814	0.49362	.	.	ENSG00000115760	ENST00000421745	T	0.74421	-0.84	5.67	5.67	0.87782	.	0.067092	0.64402	D	0.000012	T	0.57740	0.2074	N	0.19112	0.55	0.48087	D	0.999583	B	0.13594	0.008	B	0.17098	0.017	T	0.53718	-0.8399	10	0.13108	T	0.6	.	11.5764	0.50864	0.8509:0.149:0.0:0.0	.	2683	Q9NR09	BIRC6_HUMAN	V	2683	ENSP00000393596:I2683V	ENSP00000393596:I2683V	I	+	1	0	BIRC6	32567237	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.015000	0.57152	2.170000	0.68504	0.533000	0.62120	ATA		0.318	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		G	32713733	A	G	32713733	3	3	734	1	0	0	0	0	1	0	0	0	1438	217	8	3	8213	3	BIRC6	2	32713733	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	1229213	32713733	210485640	100	41519											
CRIM1	51232	broad.mit.edu	37	2	36691711	36691711	+	Missense_Mutation	SNP	G	G	A	rs373577546		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:36691711G>A	ENST00000280527.2	+	5	1271	c.904G>A	c.(904-906)Gtg>Atg	p.V302M		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	302					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)				TGGTTTCCCCGTGTGTGAGGT	0.493																																																0								G	MET/VAL	0,4406		0,0,2203	261	236	244		904	2.8	1	2		244	1,8599	1.2+/-3.3	0,1,4299	no	missense	CRIM1	NM_016441.2	21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	302/1037	36691711	1,13005	2203	4300	6503	SO:0001583	missense	51232			AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"cysteine-rich motor neuron 1"	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.904G>A	2.37:g.36691711G>A	ENSP00000280527:p.Val302Met		Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Missense_Mutation	SNP	ENST00000280527.2	37	CCDS1783.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.030171	0.35797	0.0	1.16E-4	ENSG00000150938	ENST00000280527;ENST00000426856	T	0.04360	3.64	5.94	2.83	0.33086	.	0.346611	0.29172	N	0.012927	T	0.03305	0.0096	N	0.19112	0.55	0.29209	N	0.874718	B	0.13594	0.008	B	0.09377	0.004	T	0.24799	-1.0150	10	0.44086	T	0.13	-3.1507	7.1527	0.25620	0.3699:0.0:0.6301:0.0	.	302	Q9NZV1	CRIM1_HUMAN	M	302;194	ENSP00000280527:V302M	ENSP00000280527:V302M	V	+	1	0	CRIM1	36545215	0.996000	0.38824	1.000000	0.80357	0.999000	0.98932	0.549000	0.23329	0.861000	0.35504	0.650000	0.86243	GTG		0.493	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216878.2	NM_016441		A	36691711	G	A	36691711	3	1	734	1	0	0	0	0	1	0	0	0	3875	1145	40	1	922	1	CRIM1	2	36691711	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	3977978	36691711	206507662	101	41520											
KCNG3	170850	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	2	42720408	42720408	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:42720408G>A	ENST00000306078.1	-	1	829	c.234C>T	c.(232-234)cgC>cgT	p.R78R	MTA3_ENST00000405592.1_5'Flank|KCNG3_ENST00000394973.4_Silent_p.R78R	NM_133329.5|NM_172344.2	NP_579875.1|NP_758847.1	Q8TAE7	KCNG3_HUMAN	potassium voltage-gated channel, subfamily G, member 3	78					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			central_nervous_system(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	6						TGCCGTGGCCGCGCACGTAGA	0.647																																																0													30	29	30					2																	42720408		2198	4300	6498	SO:0001819	synonymous_variant	170850			AB070604	CCDS1809.1, CCDS42674.1	2p21	2011-07-05			ENSG00000171126	ENSG00000171126		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18306	protein-coding gene	gene with protein product		606767				11852086, 16382104	Standard	NM_133329		Approved	Kv6.3	uc002rsn.3	Q8TAE7	OTTHUMG00000128604	ENST00000306078.1:c.234C>T	2.37:g.42720408G>A			Q53SC1	Silent	SNP	ENST00000306078.1	37	CCDS1809.1																																																																																				0.647	KCNG3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250464.2	NM_172344		A	42720408	G	A	42720408	2	1	734	1	0	0	0	0	0	0	0	1	8031	1074	38	1		1	KCNG3	2	42720408	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	6028697	42720408	200478965	102	41521											
OXER1	165140	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	42990143	42990143	+	Missense_Mutation	SNP	G	G	A	rs374132247		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:42990143G>A	ENST00000378661.2	-	1	1258	c.1177C>T	c.(1177-1179)Cgc>Tgc	p.R393C		NM_148962.4	NP_683765.1	Q8TDS5	OXER1_HUMAN	oxoeicosanoid (OXE) receptor 1	393					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						TCCCGGTAGCGCCACTGCCTG	0.677													.|||	1	0.000199681	0.0	0.0	5008	,	,		18890	0.0		0.0	False		,,,				2504	0.001															0								G	CYS/ARG	0,4406		0,0,2203	44	47	46		1177	-0.1	0	2		46	2,8598	2.2+/-6.3	0,2,4298	no	missense	OXER1	NM_148962.4	180	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	393/424	42990143	2,13004	2203	4300	6503	SO:0001583	missense	165140			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.1177C>T	2.37:g.42990143G>A	ENSP00000367930:p.Arg393Cys		Q86WP7|Q8NGW4	Missense_Mutation	SNP	ENST00000378661.2	37	CCDS1810.1	.	.	.	.	.	.	.	.	.	.	G	7.917	0.737792	0.15574	0.0	2.33E-4	ENSG00000162881	ENST00000378661	T	0.61510	0.1	1.59	-0.094	0.13646	.	2.639090	0.02716	U	0.113495	T	0.46678	0.1405	N	0.08118	0	0.09310	N	1	D	0.71674	0.998	P	0.53185	0.72	T	0.36962	-0.9726	10	0.59425	D	0.04	.	3.4552	0.07512	0.5217:0.0:0.4783:0.0	.	393	Q8TDS5	OXER1_HUMAN	C	393	ENSP00000367930:R393C	ENSP00000367930:R393C	R	-	1	0	OXER1	42843647	0.000000	0.05858	0.014000	0.15608	0.035000	0.12851	-0.284000	0.08422	-0.044000	0.13491	0.655000	0.94253	CGC		0.677	OXER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250514.1	NM_148962		A	42990143	G	A	42990143	3	1	734	1	0	0	0	0	1	0	0	0	11333	1087	38	1	98	1	OXER1	2	42990143	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	269735	42990143	200209230	103	41522											
OXER1	165140	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	42990181	42990181	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:42990181A>G	ENST00000378661.2	-	1	1220	c.1139T>C	c.(1138-1140)gTg>gCg	p.V380A		NM_148962.4	NP_683765.1	Q8TDS5	OXER1_HUMAN	oxoeicosanoid (OXE) receptor 1	380					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						CTCGTCGCTCACTGGGCCCTG	0.662																																																0													40	45	44					2																	42990181		2203	4300	6503	SO:0001583	missense	165140			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.1139T>C	2.37:g.42990181A>G	ENSP00000367930:p.Val380Ala		Q86WP7|Q8NGW4	Missense_Mutation	SNP	ENST00000378661.2	37	CCDS1810.1	.	.	.	.	.	.	.	.	.	.	A	0.200	-1.045308	0.01997	.	.	ENSG00000162881	ENST00000378661	T	0.37752	1.18	3.79	-4.65	0.03339	.	3.447910	0.02281	U	0.069387	T	0.13072	0.0317	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16129	-1.0413	10	0.06236	T	0.91	.	0.7743	0.01029	0.3082:0.1227:0.3231:0.246	.	380	Q8TDS5	OXER1_HUMAN	A	380	ENSP00000367930:V380A	ENSP00000367930:V380A	V	-	2	0	OXER1	42843685	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.262000	0.08682	-0.626000	0.05596	-0.250000	0.11733	GTG		0.662	OXER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250514.1	NM_148962		G	42990181	A	G	42990181	3	3	734	1	0	0	0	0	1	0	0	0	11333	159	6	3	136	3	OXER1	2	42990181	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	38	42990181	200209192	104	41523											
PPM1B	5495	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	44428691	44428691	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:44428691G>A	ENST00000282412.4	+	2	765	c.353G>A	c.(352-354)cGt>cAt	p.R118H	PPM1B_ENST00000378551.2_Missense_Mutation_p.R118H|PPM1B_ENST00000345249.4_Intron|PPM1B_ENST00000409895.4_Missense_Mutation_p.R118H|PPM1B_ENST00000378540.4_3'UTR|PPM1B_ENST00000409432.3_Missense_Mutation_p.R118H	NM_002706.4	NP_002697.1	O75688	PPM1B_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1B	118					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)				GAATACATGCGTAACTTTTCA	0.398																																																0													121	121	121					2																	44428691		2203	4300	6503	SO:0001583	missense	5495			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.353G>A	2.37:g.44428691G>A	ENSP00000282412:p.Arg118His		Q461Q2|Q4J6C1|Q4J6C2|Q658R4|Q96ER6|Q9HAY8	Missense_Mutation	SNP	ENST00000282412.4	37	CCDS1817.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.802576	0.70682	.	.	ENSG00000138032	ENST00000419807;ENST00000409895;ENST00000409432;ENST00000282412;ENST00000378551;ENST00000409473	T;T;T;T;T;T	0.18657	2.2;2.2;2.2;2.2;2.2;2.2	5.71	5.71	0.89125	Protein phosphatase 2C-like (5);	0.000000	0.85682	D	0.000000	T	0.50769	0.1635	M	0.83774	2.66	0.80722	D	1	P;P;D;P;B	0.89917	0.725;0.455;1.0;0.535;0.336	B;B;D;B;B	0.68192	0.162;0.043;0.956;0.179;0.298	T	0.43507	-0.9387	10	0.32370	T	0.25	-15.4016	19.8632	0.96793	0.0:0.0:1.0:0.0	.	118;118;118;118;118	Q4J6C0;O75688-2;Q4J6C1;O75688;Q4J6C2	.;.;.;PPM1B_HUMAN;.	H	118	ENSP00000390087:R118H;ENSP00000387341:R118H;ENSP00000387287:R118H;ENSP00000282412:R118H;ENSP00000367813:R118H;ENSP00000386982:R118H	ENSP00000282412:R118H	R	+	2	0	PPM1B	44282195	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.699000	0.92147	0.655000	0.94253	CGT		0.398	PPM1B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250672.1	NM_002706		A	44428691	G	A	44428691	3	1	734	1	0	0	0	0	1	0	0	0	12341	1145	40	1	355	1	PPM1B	2	44428691	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1438510	44428691	198770682	105	41524											
MSH6	2956	bcgsc.ca	37	2	48030692	48030693	+	Frame_Shift_Ins	INS	-	-	T	rs267608092|rs267608093|rs2020910	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:48030692_48030693insT	ENST00000234420.5	+	5	3458_3459	c.3306_3307insT	c.(3307-3309)tttfs	p.F1103fs	MSH6_ENST00000540021.1_Frame_Shift_Ins_p.F973fs|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000538136.1_Frame_Shift_Ins_p.F801fs	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	1103					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTACGAAGACTTTTTTTGGAGA	0.45			"Mis, N, F, S"		colorectal	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	mutS homolog 6 (E. coli)		E	2	Whole gene deletion(2)	haematopoietic_and_lymphoid_tissue(2)																																								SO:0001589	frameshift_variant	2956	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	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"mutS (E. coli) homolog 6", "mutS homolog 6 (E. coli)"	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.3312dupT	2.37:g.48030698_48030698dupT	ENSP00000234420:p.Phe1103fs		B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Frame_Shift_Ins	INS	ENST00000234420.5	37	CCDS1836.1																																																																																				0.45	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179		T	48030693	-	T	48030692	7	5	734	1	0	1	1	0	0	0	0	0	9876	1596	56	0	3324	0	MSH6	2	48030692	Frame_Shift_Ins	INS	-	TCGA-KN-8428-01A-11D-2310-10	3602001	48030692	195168681	106	41525											
SPTBN1	6711	broad.mit.edu	37	2	54876812	54876812	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:54876812G>A	ENST00000356805.4	+	26	5544	c.5263G>A	c.(5263-5265)Gtg>Atg	p.V1755M	SPTBN1_ENST00000333896.5_Missense_Mutation_p.V1742M	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1755	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)			GCAGGAGCGCGTGGACACGGT	0.552																																																0													66	64	65					2																	54876812		2203	4300	6503	SO:0001583	missense	6711				CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"Pleckstrin homology (PH) domain containing"	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.5263G>A	2.37:g.54876812G>A	ENSP00000349259:p.Val1755Met		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.395228	0.83011	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	T;T	0.58210	0.35;0.35	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.79353	0.4431	M	0.90309	3.105	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.932;0.998	T	0.83200	-0.0079	10	0.87932	D	0	.	19.632	0.95713	0.0:0.0:1.0:0.0	.	1742;1755	Q01082-3;Q01082	.;SPTB2_HUMAN	M	1755;1742	ENSP00000349259:V1755M;ENSP00000334156:V1742M	ENSP00000334156:V1742M	V	+	1	0	SPTBN1	54730316	1.000000	0.71417	0.965000	0.40720	0.463000	0.32649	9.747000	0.98863	2.647000	0.89833	0.555000	0.69702	GTG		0.552	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			A	54876812	G	A	54876812	3	1	734	1	0	0	0	0	1	0	0	0	15124	1145	40	1	5474	1	SPTBN1	2	54876812	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	6846120	54876812	188322561	107	41526											
RTN4	57142	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	55254295	55254295	+	Missense_Mutation	SNP	C	C	T	rs144622313		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:55254295C>T	ENST00000337526.6	-	3	1183	c.940G>A	c.(940-942)Gta>Ata	p.V314I	RTN4_ENST00000317610.7_Intron|RTN4_ENST00000357376.3_Missense_Mutation_p.V108I|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000405240.1_Missense_Mutation_p.V108I|RTN4_ENST00000354474.6_Missense_Mutation_p.V82I|RTN4_ENST00000394611.2_Missense_Mutation_p.V108I|RTN4_ENST00000404909.1_Missense_Mutation_p.V108I	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	314					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						GCTACTATTACGGCAGATTCT	0.333													C|||	1	0.000199681	0.0	0.0014	5008	,	,		21464	0.0		0.0	False		,,,				2504	0.0															0								C	ILE/VAL,,,ILE/VAL	4,4402	8.1+/-20.4	0,4,2199	90	88	89		940,,,322	-12	0	2	dbSNP_134	89	10,8588	7.7+/-29.5	0,10,4289	yes	missense,intron,intron,missense	RTN4	NM_020532.4,NM_153828.2,NM_207520.1,NM_207521.1	29,,,29	0,14,6488	TT,TC,CC		0.1163,0.0908,0.1077	benign,,,benign	314/1193,,,108/987	55254295	14,12990	2203	4299	6502	SO:0001583	missense	57142			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.940G>A	2.37:g.55254295C>T	ENSP00000337838:p.Val314Ile		O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Missense_Mutation	SNP	ENST00000337526.6	37	CCDS42684.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	0.003	-2.572382	0.00133	9.08E-4	0.001163	ENSG00000115310	ENST00000405240;ENST00000357376;ENST00000337526;ENST00000394611;ENST00000404909;ENST00000354474	T;T;T;T;T;T	0.16897	2.32;2.32;2.31;2.32;2.32;2.31	6.02	-12.0	0.00017	.	1.724100	0.02202	N	0.062322	T	0.05318	0.0141	N	0.02391	-0.57	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.43702	-0.9375	10	0.02654	T	1	2.7456	15.2947	0.73894	0.1131:0.6214:0.0:0.2655	.	314	Q9NQC3	RTN4_HUMAN	I	108;108;314;108;108;82	ENSP00000384471:V108I;ENSP00000349944:V108I;ENSP00000337838:V314I;ENSP00000378109:V108I;ENSP00000385650:V108I;ENSP00000346465:V82I	ENSP00000337838:V314I	V	-	1	0	RTN4	55107799	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-1.135000	0.03225	-1.910000	0.01083	-1.929000	0.00512	GTA		0.333	RTN4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251484.1			T	55254295	C	T	55254295	3	4	734	1	0	0	0	0	1	0	0	0	13734	536	19	1	2704	1	RTN4	2	55254295	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	377483	55254295	187945078	108	41527											
C2orf63	130162	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	55408743	55408743	+	Missense_Mutation	SNP	G	G	A	rs368001227		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:55408743G>A	ENST00000401408.1	-	10	1489	c.1144C>T	c.(1144-1146)Cgg>Tgg	p.R382W	CLHC1_ENST00000407122.1_Missense_Mutation_p.R382W|CLHC1_ENST00000494539.1_Intron|CLHC1_ENST00000406076.1_Missense_Mutation_p.R260W|CLHC1_ENST00000406437.2_De_novo_Start_OutOfFrame	NM_152385.2	NP_689598.2	Q8NHS4	CLHC1_HUMAN	clathrin heavy chain linker domain containing 1	382																	AAATCTAACCGTTTTTCTGAT	0.343																																																0								G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	86	80	82		778,1144	5.8	1	2		82	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	C2orf63	NM_001135598.1,NM_152385.2	101,101	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging	260/465,382/587	55408743	2,13004	2203	4300	6503	SO:0001583	missense	130162				CCDS33201.1, CCDS46287.1	2p16.1	2012-08-03	2012-08-03	2012-08-03	ENSG00000162994	ENSG00000162994			26453	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 63"	C2orf63			Standard	NM_152385		Approved	FLJ31438	uc002ryi.2	Q8NHS4	OTTHUMG00000151918	ENST00000401408.1:c.1144C>T	2.37:g.55408743G>A	ENSP00000384869:p.Arg382Trp		B2RDV1|Q53R93|Q8N403	Missense_Mutation	SNP	ENST00000401408.1	37	CCDS33201.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.391201	0.82902	0.0	2.33E-4	ENSG00000162994	ENST00000407122;ENST00000401408;ENST00000406076	T;T;T	0.52526	0.66;0.66;0.66	5.78	5.78	0.91487	Clathrin, heavy chain, linker (1);Armadillo-type fold (1);	0.180442	0.38837	N	0.001557	T	0.69070	0.3070	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.70321	-0.4904	10	0.87932	D	0	-14.0778	17.2896	0.87152	0.0:0.0:1.0:0.0	.	382	Q8NHS4	CB063_HUMAN	W	382;382;260	ENSP00000385778:R382W;ENSP00000384869:R382W;ENSP00000385512:R260W	ENSP00000384869:R382W	R	-	1	2	C2orf63	55262247	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	3.922000	0.56462	2.894000	0.99253	0.591000	0.81541	CGG		0.343	CLHC1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324412.4	NM_152385		A	55408743	G	A	55408743	3	1	734	1	0	0	0	0	1	0	0	0	2184	1144	40	1	632	1	C2orf63	2	55408743	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	154448	55408743	187790630	109	41528											
ETAA1	54465	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	2	67637129	67637129	+	Nonsense_Mutation	SNP	C	C	T	rs368100435		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:67637129C>T	ENST00000272342.5	+	6	2870	c.2740C>T	c.(2740-2742)Cga>Tga	p.R914*		NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	914						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						GGCTAAAGCACGAGCCTCATC	0.373																																																0													94	112	106					2																	67637129		2203	4300	6503	SO:0001587	stop_gained	54465			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.2740C>T	2.37:g.67637129C>T	ENSP00000272342:p.Arg914*		Q05BT7|Q53SC4	Nonsense_Mutation	SNP	ENST00000272342.5	37	CCDS1882.1	.	.	.	.	.	.	.	.	.	.	C	41	8.572554	0.98868	.	.	ENSG00000143971	ENST00000272342	.	.	.	5.83	4.73	0.59995	.	0.322034	0.28135	N	0.016468	.	.	.	.	.	.	0.53688	D	0.999978	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-28.0792	11.0857	0.48086	0.0:0.8843:0.0:0.1157	.	.	.	.	X	914	.	ENSP00000272342:R914X	R	+	1	2	ETAA1	67490633	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.054000	0.49908	1.127000	0.42034	0.591000	0.81541	CGA		0.373	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251735.1	NM_019002		T	67637129	C	T	67637129	4	4	734	1	0	0	0	0	0	1	0	0	5269	528	19	1	2762	1	ETAA1	2	67637129	Nonsense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	12228386	67637129	175562244	110	41529											
GFPT1	2673	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	2	69583647	69583647	+	Missense_Mutation	SNP	C	C	T	rs370171865		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:69583647C>T	ENST00000357308.4	-	7	764	c.586G>A	c.(586-588)Ggg>Agg	p.G196R	GFPT1_ENST00000361060.5_Missense_Mutation_p.G196R	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	196	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				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						ACTGCTTGCCCGGGAAAATGA	0.358																																																0								C	ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	146	146	146		586	4.5	1	2		146	0,8600		0,0,4300	no	missense	GFPT1	NM_002056.3	125	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	196/682	69583647	1,13005	2203	4300	6503	SO:0001583	missense	2673				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.586G>A	2.37:g.69583647C>T	ENSP00000349860:p.Gly196Arg		Q53QE6|Q9BXF8	Missense_Mutation	SNP	ENST00000357308.4	37	CCDS58713.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.316483	0.81469	2.27E-4	0.0	ENSG00000198380	ENST00000357308;ENST00000361060	T;T	0.76448	-1.02;-1.02	5.34	4.47	0.54385	.	0.000000	0.85682	D	0.000000	D	0.86180	0.5871	M	0.74881	2.28	0.80722	D	1	D	0.71674	0.998	D	0.69654	0.965	D	0.87609	0.2502	10	0.72032	D	0.01	-12.7973	12.7181	0.57127	0.0:0.9208:0.0:0.0792	.	196	Q06210-2	.	R	196	ENSP00000349860:G196R;ENSP00000354347:G196R	ENSP00000349860:G196R	G	-	1	0	GFPT1	69437151	1.000000	0.71417	0.998000	0.56505	0.926000	0.56050	5.785000	0.68998	1.491000	0.48482	0.655000	0.94253	GGG		0.358	GFPT1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				T	69583647	C	T	69583647	3	4	734	1	0	0	0	0	1	0	0	0	6347	652	23	1	1511	1	GFPT1	2	69583647	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1946518	69583647	173615726	111	41530											
DYSF	8291	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	71887760	71887760	+	Missense_Mutation	SNP	C	C	T	rs144383140		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:71887760C>T	ENST00000258104.3	+	44	5142	c.4865C>T	c.(4864-4866)aCg>aTg	p.T1622M	DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000410041.1_Missense_Mutation_p.T1640M|DYSF_ENST00000429174.2_Missense_Mutation_p.T1643M|DYSF_ENST00000409762.1_Missense_Mutation_p.T1639M|DYSF_ENST00000394120.2_Missense_Mutation_p.T1623M|DYSF_ENST00000409366.1_Missense_Mutation_p.T1644M|DYSF_ENST00000413539.2_Missense_Mutation_p.T1653M|DYSF_ENST00000410020.3_Missense_Mutation_p.T1661M|DYSF_ENST00000409582.3_Missense_Mutation_p.T1660M|DYSF_ENST00000409651.1_Missense_Mutation_p.T1654M|DYSF_ENST00000409744.1_Missense_Mutation_p.T1630M	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1622	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						ATCCCCTGCACGCTGGAGCCC	0.502																																																0								C	MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	145	128	134		4868,4823,4886,4928,4958,4916,4979,4961,4931,4889,4919,4826,4982,4865	5.8	1	2	dbSNP_134	134	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	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	81,81,81,81,81,81,81,81,81,81,81,81,81,81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	1623/2082,1608/2067,1629/2088,1643/2102,1653/2112,1639/2098,1660/2119,1654/2113,1644/2103,1630/2089,1640/2099,1609/2068,1661/2120,1622/2081	71887760	1,13005	2203	4300	6503	SO:0001583	missense	8291			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.4865C>T	2.37:g.71887760C>T	ENSP00000258104:p.Thr1622Met		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	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.677535	0.88445	0.0	1.16E-4	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	T;T;T;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;0.68;0.68;0.68	5.78	5.78	0.91487	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.245141	0.47455	D	0.000231	T	0.78027	0.4219	H	0.97186	3.955	0.58432	D	0.999996	D;P;P;D;D;D;D;D;D;P;P;P;D;D;D	0.69078	0.99;0.924;0.924;0.992;0.985;0.979;0.997;0.979;0.997;0.924;0.79;0.921;0.972;0.985;0.988	P;P;P;P;P;P;P;P;P;P;P;P;P;P;P	0.61722	0.893;0.525;0.65;0.809;0.809;0.657;0.888;0.657;0.888;0.525;0.65;0.496;0.809;0.809;0.88	D	0.85230	0.1032	10	0.72032	D	0.01	-23.1535	17.5763	0.87950	0.0:1.0:0.0:0.0	.	386;1654;1661;1644;1609;1640;1630;1639;1629;1653;1660;1643;1608;1623;1622	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	M	1653;1639;1660;1643;1622;1654;1623;1630;1644;1661;1640	ENSP00000407046:T1653M;ENSP00000387137:T1639M;ENSP00000386547:T1660M;ENSP00000398305:T1643M;ENSP00000258104:T1622M;ENSP00000386683:T1654M;ENSP00000377678:T1623M;ENSP00000386285:T1630M;ENSP00000386512:T1644M;ENSP00000386881:T1661M;ENSP00000386617:T1640M	ENSP00000258104:T1622M	T	+	2	0	DYSF	71741268	1.000000	0.71417	0.963000	0.40424	0.939000	0.58152	5.958000	0.70330	2.754000	0.94517	0.549000	0.68633	ACG		0.502	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		T	71887760	C	T	71887760	3	4	734	1	0	0	0	0	1	0	0	0	4861	536	19	1	5298	1	DYSF	2	71887760	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	2304113	71887760	171311613	112	41531											
EGR4	1961	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	73520376	73520376	+	Missense_Mutation	SNP	C	C	T	rs370512012		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:73520376C>T	ENST00000545030.1	-	1	453	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	EGR4_ENST00000436467.2_Missense_Mutation_p.E24K	NM_001965.3	NP_001956.3	Q05215	EGR4_HUMAN	early growth response 4	127					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						GCGCTGGGTTCGGCGCAACAG	0.701																																																0													21	17	19					2																	73520376		2194	4292	6486	SO:0001583	missense	1961				CCDS1925.2	2p13	2013-01-08			ENSG00000135625	ENSG00000135625		"Zinc fingers, C2H2-type"	3241	protein-coding gene	gene with protein product		128992				1584812	Standard	NM_001965		Approved	NGFI-C, PAT133	uc010yrj.2	Q05215	OTTHUMG00000129774	ENST00000545030.1:c.379G>A	2.37:g.73520376C>T	ENSP00000445626:p.Glu127Lys		B2RAE3|G3V1T5|Q2Z1P5	Missense_Mutation	SNP	ENST00000545030.1	37	CCDS1925.2	.	.	.	.	.	.	.	.	.	.	C	12.50	1.956665	0.34565	.	.	ENSG00000135625	ENST00000545030;ENST00000436467	T;T	0.15372	2.43;2.83	4.06	2.19	0.27852	.	0.797021	0.10981	N	0.612656	T	0.10594	0.0259	N	0.24115	0.695	0.09310	N	1	B;B	0.22909	0.046;0.077	B;B	0.16722	0.007;0.016	T	0.31308	-0.9948	10	0.72032	D	0.01	-0.6171	3.9935	0.09548	0.0:0.5634:0.2109:0.2256	.	24;127	Q05215;G3V1T5	EGR4_HUMAN;.	K	127;24	ENSP00000445626:E127K;ENSP00000419687:E24K	ENSP00000419687:E24K	E	-	1	0	EGR4	73373884	0.000000	0.05858	0.080000	0.20451	0.537000	0.34900	0.041000	0.13927	0.345000	0.23873	0.561000	0.74099	GAA		0.701	EGR4-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001965		T	73520376	C	T	73520376	3	4	734	1	0	0	0	0	1	0	0	0	4976	893	31	1	1398	1	EGR4	2	73520376	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1632616	73520376	169678997	113	41532											
TET3	200424	broad.mit.edu;ucsc.edu;mdanderson.org	37	2	74327959	74327959	+	Silent	SNP	C	C	T	rs530077169	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:74327959C>T	ENST00000409262.3	+	9	3639	c.3639C>T	c.(3637-3639)gaC>gaT	p.D1213D		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	1213					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TTCCCACAGACGCCCACCACC	0.642													C|||	2	0.000399361	0.0008	0.0014	5008	,	,		17802	0.0		0.0	False		,,,				2504	0.0															0													19	23	22					2																	74327959		2078	4211	6289	SO:0001819	synonymous_variant	200424				CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"tet oncogene family member 3"			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.3639C>T	2.37:g.74327959C>T			A6NEI3|Q86Z24|Q8TBM9	Silent	SNP	ENST00000409262.3	37	CCDS46339.1																																																																																				0.642	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4			T	74327959	C	T	74327959	2	4	734	1	0	0	0	0	0	0	0	1	15776	535	19	1		1	TET3	2	74327959	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	807583	74327959	168871414	114	41533											
TCF7L1	83439	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	85533623	85533623	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:85533623C>T	ENST00000282111.3	+	10	1473	c.1198C>T	c.(1198-1200)Cgg>Tgg	p.R400W		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	400					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						CGAGCTGGCCCGGAAGGAGCG	0.607																																																0													70	65	67					2																	85533623		2203	4300	6503	SO:0001583	missense	83439			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.1198C>T	2.37:g.85533623C>T	ENSP00000282111:p.Arg400Trp		Q53R97|Q6PD70|Q9NP00	Missense_Mutation	SNP	ENST00000282111.3	37	CCDS1971.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.604526	0.66445	.	.	ENSG00000152284	ENST00000282111	D	0.98135	-4.74	4.74	2.88	0.33553	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.053873	0.64402	D	0.000001	D	0.98704	0.9565	M	0.92317	3.295	0.53005	D	0.999965	D	0.89917	1.0	D	0.80764	0.994	D	0.98574	1.0647	10	0.87932	D	0	.	9.2326	0.37446	0.1649:0.676:0.1591:0.0	.	400	Q9HCS4	TF7L1_HUMAN	W	400	ENSP00000282111:R400W	ENSP00000282111:R400W	R	+	1	2	TCF7L1	85387134	0.740000	0.28207	0.998000	0.56505	0.830000	0.47004	1.445000	0.35079	0.562000	0.29204	-0.293000	0.09583	CGG		0.607	TCF7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252301.2	NM_031283		T	85533623	C	T	85533623	3	4	734	1	0	0	0	0	1	0	0	0	15702	643	23	1	1236	1	TCF7L1	2	85533623	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	11205664	85533623	157665750	115	41534											
POLR1A	25885	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	2	86315989	86315989	+	Missense_Mutation	SNP	T	T	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:86315989T>G	ENST00000263857.6	-	5	923	c.545A>C	c.(544-546)aAg>aCg	p.K182T	POLR1A_ENST00000409681.1_Missense_Mutation_p.K182T			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	182					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						ACACACGTTCTTTACCTGTTT	0.398																																																0													91	87	88					2																	86315989		1904	4113	6017	SO:0001583	missense	25885			AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"RNA polymerase subunits"	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.545A>C	2.37:g.86315989T>G	ENSP00000263857:p.Lys182Thr		B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	ENST00000263857.6	37	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	T	19.50	3.840075	0.71488	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	T;T	0.69435	-0.4;-0.38	6.07	6.07	0.98685	RNA polymerase Rpb1, domain 1 (1);	0.230096	0.47455	D	0.000221	T	0.76849	0.4045	L	0.52266	1.64	0.80722	D	1	D;D	0.60575	0.977;0.988	D;P	0.63877	0.919;0.869	T	0.77902	-0.2414	10	0.59425	D	0.04	-29.6231	16.3021	0.82825	0.0:0.0:0.0:1.0	.	182;182	B9ZVN9;O95602	.;RPA1_HUMAN	T	182	ENSP00000263857:K182T;ENSP00000386300:K182T	ENSP00000263857:K182T	K	-	2	0	POLR1A	86169500	1.000000	0.71417	0.990000	0.47175	0.925000	0.55904	7.073000	0.76784	2.326000	0.78906	0.533000	0.62120	AAG		0.398	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		G	86315989	T	G	86315989	3	3	734	1	0	0	0	0	1	0	0	0	12211	1609	56	5	4737	5	POLR1A	2	86315989	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	782366	86315989	156883384	116	41535											
FAM178B	51252	bcgsc.ca	37	2	97568436	97568436	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:97568436C>T	ENST00000417561.3	-	17	2014	c.2015G>A	c.(2014-2016)cGa>cAa	p.R672Q	FAM178B_ENST00000490605.2_Missense_Mutation_p.R524Q|FAM178B_ENST00000327896.3_Missense_Mutation_p.R492Q			Q8IXR5	F178B_HUMAN	family with sequence similarity 178, member B	672										large_intestine(1)|ovary(1)	2						GAGCTGGCTTCGAAGCCGCCT	0.617																																																0													37	38	38					2																	97568436		692	1591	2283	SO:0001583	missense	51252			AF151068, BC039488	CCDS33252.1, CCDS46366.1, CCDS46366.2	2q11.2	2008-08-08			ENSG00000168754	ENSG00000168754			28036	protein-coding gene	gene with protein product						11042152	Standard	NM_001122646		Approved	LOC51252	uc002sxl.4	Q8IXR5	OTTHUMG00000155257	ENST00000417561.3:c.2015G>A	2.37:g.97568436C>T	ENSP00000413245:p.Arg672Gln		A8MXN2|E9PD86|Q8IUY0|Q9P0P4	Missense_Mutation	SNP	ENST00000417561.3	37		.	.	.	.	.	.	.	.	.	.	C	24.6	4.553217	0.86127	.	.	ENSG00000168754	ENST00000417561;ENST00000327896;ENST00000490605	T;T;T	0.57595	0.39;0.42;0.4	5.42	5.42	0.78866	.	.	.	.	.	T	0.63663	0.2530	M	0.64404	1.975	0.29515	N	0.853893	.	.	.	.	.	.	T	0.64249	-0.6452	7	0.72032	D	0.01	-5.6676	14.7261	0.69346	0.0:1.0:0.0:0.0	.	.	.	.	Q	672;492;524	ENSP00000413245:R672Q;ENSP00000333553:R492Q;ENSP00000429896:R524Q	ENSP00000333553:R492Q	R	-	2	0	FAM178B	96932163	1.000000	0.71417	0.988000	0.46212	0.865000	0.49528	3.512000	0.53407	2.547000	0.85894	0.561000	0.74099	CGA		0.617	FAM178B-202	KNOWN	basic	protein_coding	protein_coding		NM_016490		T	97568436	C	T	97568436	3	4	734	1	0	0	0	0	1	0	0	0	5506	884	31	1	519	1	FAM178B	2	97568436	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	11252447	97568436	145630937	117	41536											
LYG2	254773	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	99860551	99860551	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:99860551T>C	ENST00000409238.1	-	4	451	c.431A>G	c.(430-432)cAc>cGc	p.H144R	LYG2_ENST00000333017.2_Missense_Mutation_p.H144R|LYG2_ENST00000423800.1_Missense_Mutation_p.H144R|LYG2_ENST00000409679.1_Missense_Mutation_p.H144R			Q86SG7	LYG2_HUMAN	lysozyme G-like 2	144					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						CTGTGAAAGGTGCTCTTTGCT	0.433																																																0													100	94	96					2																	99860551		2203	4300	6503	SO:0001583	missense	254773			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.431A>G	2.37:g.99860551T>C	ENSP00000386939:p.His144Arg		Q496G2|Q53RW0	Missense_Mutation	SNP	ENST00000409238.1	37	CCDS2042.1	.	.	.	.	.	.	.	.	.	.	T	14.62	2.588887	0.46110	.	.	ENSG00000185674	ENST00000409238;ENST00000333017;ENST00000409679;ENST00000423306	.	.	.	5.58	5.58	0.84498	Lytic transglycosylase-like, catalytic (1);Lysozyme-like domain (1);	0.000000	0.64402	D	0.000013	T	0.79399	0.4439	M	0.84326	2.69	0.49687	D	0.999816	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.999;0.999	T	0.81531	-0.0890	8	.	.	.	-3.0463	12.1331	0.53955	0.0:0.0:0.0:1.0	.	144;144;144	Q496G2;C9J4J0;Q86SG7	.;.;LYG2_HUMAN	R	144	.	.	H	-	2	0	LYG2	99226983	1.000000	0.71417	0.998000	0.56505	0.065000	0.16274	5.205000	0.65186	2.121000	0.65114	0.454000	0.30748	CAC		0.433	LYG2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330307.1	NM_175735		C	99860551	T	C	99860551	3	2	734	1	0	0	0	0	1	0	0	0	9107	1696	59	3	215	3	LYG2	2	99860551	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	2292115	99860551	143338822	118	41537											
AFF3	3899	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	100210166	100210166	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:100210166G>A	ENST00000409236.2	-	13	2069	c.1957C>T	c.(1957-1959)Cgg>Tgg	p.R653W	AFF3_ENST00000356421.2_Missense_Mutation_p.R678W|AFF3_ENST00000317233.4_Missense_Mutation_p.R653W|AFF3_ENST00000409579.1_Missense_Mutation_p.R678W			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	653					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						CTTAGCCCCCGCGTGCGGCGC	0.632																																																0													60	66	64					2																	100210166		2203	4299	6502	SO:0001583	missense	3899			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.1957C>T	2.37:g.100210166G>A	ENSP00000387207:p.Arg653Trp		B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.899400	0.52227	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38	5.17	3.3	0.37823	.	0.086860	0.45867	D	0.000326	T	0.81384	0.4811	M	0.81497	2.545	0.34164	D	0.669057	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.989	D	0.87301	0.2305	10	0.72032	D	0.01	.	13.6734	0.62438	0.0:0.0:0.6001:0.3999	.	806;653;678	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	W	653;678;678;653;653;806;678	ENSP00000317421:R653W;ENSP00000348793:R678W;ENSP00000386834:R678W;ENSP00000387207:R653W	ENSP00000317421:R653W	R	-	1	2	AFF3	99576598	0.001000	0.12720	0.611000	0.29010	0.738000	0.42128	-0.157000	0.10085	0.523000	0.28482	0.561000	0.74099	CGG		0.632	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		A	100210166	G	A	100210166	3	1	734	1	0	0	0	0	1	0	0	0	358	1086	38	1	1767	1	AFF3	2	100210166	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	349615	100210166	142989207	119	41538											
IL1R1	3554	broad.mit.edu;mdanderson.org;bcgsc.ca	37	2	102789203	102789203	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:102789203C>T	ENST00000410023.1	+	9	1214	c.896C>T	c.(895-897)tCg>tTg	p.S299L	IL1R1_ENST00000409929.1_Missense_Mutation_p.S299L|IL1R1_ENST00000409288.1_Missense_Mutation_p.S299L|IL1R1_ENST00000424272.1_Missense_Mutation_p.S299L|IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000409329.1_Missense_Mutation_p.S299L|AC007271.3_ENST00000428188.1_RNA|IL1R1_ENST00000233946.3_Missense_Mutation_p.S299L			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	299	Ig-like C2-type 3.				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)	CTTAATATATCGGAAATTGAA	0.333																																																0													120	113	115					2																	102789203		2203	4300	6503	SO:0001583	missense	3554			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.896C>T	2.37:g.102789203C>T	ENSP00000386380:p.Ser299Leu		Q587I7	Missense_Mutation	SNP	ENST00000410023.1	37	CCDS2055.1	.	.	.	.	.	.	.	.	.	.	C	7.955	0.745632	0.15710	.	.	ENSG00000115594	ENST00000409929;ENST00000424272;ENST00000409329;ENST00000428279;ENST00000409288;ENST00000410023;ENST00000233946	T;T;T;T;T;T;T	0.04015	3.73;3.73;3.73;3.73;3.73;3.73;3.73	4.87	3.05	0.35203	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.129319	0.56097	N	0.000040	T	0.05227	0.0139	L	0.42245	1.32	0.35207	D	0.774809	B;B;B	0.24186	0.044;0.099;0.058	B;B;B	0.22753	0.041;0.041;0.031	T	0.19063	-1.0317	10	0.49607	T	0.09	.	9.1313	0.36846	0.0:0.8255:0.0:0.1745	.	299;299;299	B8ZZW4;P14778;B8ZZ73	.;IL1R1_HUMAN;.	L	299;299;299;155;299;299;299	ENSP00000386776:S299L;ENSP00000415366:S299L;ENSP00000387131:S299L;ENSP00000410461:S155L;ENSP00000386478:S299L;ENSP00000386380:S299L;ENSP00000233946:S299L	ENSP00000233946:S299L	S	+	2	0	IL1R1	102155635	0.743000	0.28239	0.109000	0.21407	0.027000	0.11550	1.082000	0.30803	0.743000	0.32719	0.591000	0.81541	TCG		0.333	IL1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253299.1			T	102789203	C	T	102789203	3	4	734	1	0	0	0	0	1	0	0	0	7660	893	31	1	922	1	IL1R1	2	102789203	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	2579037	102789203	140410170	120	41539											
MALL	7851	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	110849317	110849317	+	Missense_Mutation	SNP	C	C	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:110849317C>A	ENST00000272462.2	-	2	909	c.136G>T	c.(136-138)Gcc>Tcc	p.A46S	MALL_ENST00000427178.1_Intron	NM_005434.4	NP_005425.1	Q13021	MALL_HUMAN	mal, T-cell differentiation protein-like	46	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cholesterol homeostasis (GO:0042632)	clathrin-coated vesicle (GO:0030136)|cytoplasmic membrane-bounded vesicle (GO:0016023)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	9				Epithelial(1;0.0546)|STAD - Stomach adenocarcinoma(1;0.18)		TGGGTGGCGGCTACCATGGTC	0.463																																																0													90	79	83					2																	110849317		2201	4295	6496	SO:0001583	missense	7851			U17077	CCDS2085.1	2q13	2008-02-05			ENSG00000144063	ENSG00000144063			6818	protein-coding gene	gene with protein product		602022				9326933	Standard	NM_005434		Approved	BENE	uc002tfk.3	Q13021	OTTHUMG00000131196	ENST00000272462.2:c.136G>T	2.37:g.110849317C>A	ENSP00000272462:p.Ala46Ser		B3KWR6|Q9BTU0	Missense_Mutation	SNP	ENST00000272462.2	37	CCDS2085.1	.	.	.	.	.	.	.	.	.	.	C	4.439	0.081328	0.08533	.	.	ENSG00000144063	ENST00000272462	T	0.30182	1.54	3.47	3.47	0.39725	Marvel (1);MARVEL-like domain (1);	0.000000	0.53938	D	0.000051	T	0.57184	0.2036	M	0.85197	2.74	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.63373	-0.6652	10	0.49607	T	0.09	-14.0004	12.7991	0.57576	0.0:1.0:0.0:0.0	.	46	Q13021	MALL_HUMAN	S	46	ENSP00000272462:A46S	ENSP00000272462:A46S	A	-	1	0	MALL	110206606	0.996000	0.38824	0.802000	0.32245	0.092000	0.18411	4.652000	0.61454	1.664000	0.50801	0.313000	0.20887	GCC		0.463	MALL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253921.1	NM_005434		A	110849317	C	A	110849317	3	1	734	1	0	0	0	0	1	0	0	0	9203	797	28	4	337	4	MALL	2	110849317	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	8060114	110849317	132350056	121	41540											
BUB1	699	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	2	111416221	111416221	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:111416221A>G	ENST00000302759.6	-	12	1493	c.1375T>C	c.(1375-1377)Tca>Cca	p.S459P	BUB1_ENST00000535254.1_Missense_Mutation_p.S439P|BUB1_ENST00000409311.1_Missense_Mutation_p.S459P	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	459	Essential for loading of BUBR1, MAD1L1 and MAD2L1 to kinetochores.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		ACGGTGGGTGATGGCTGCACT	0.433																																																0													225	192	203					2																	111416221		2203	4300	6503	SO:0001583	missense	699			AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679			1148	protein-coding gene	gene with protein product		602452	"budding uninhibited by benzimidazoles 1 (yeast homolog)", "budding uninhibited by benzimidazoles 1 homolog (yeast)"	BUB1L			Standard	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.1375T>C	2.37:g.111416221A>G	ENSP00000302530:p.Ser459Pro		E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Missense_Mutation	SNP	ENST00000302759.6	37	CCDS33273.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.600316	0.87055	.	.	ENSG00000169679	ENST00000535254;ENST00000409311;ENST00000302759;ENST00000541432	T;T;T	0.62639	0.87;0.01;1.15	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.77363	0.4119	M	0.65498	2.005	0.51012	D	0.999905	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.79359	-0.1836	10	0.72032	D	0.01	-18.7989	14.5065	0.67755	1.0:0.0:0.0:0.0	.	439;459;459	F5GXI5;E9PC26;O43683	.;.;BUB1_HUMAN	P	439;459;459;459	ENSP00000441013:S439P;ENSP00000386701:S459P;ENSP00000302530:S459P	ENSP00000302530:S459P	S	-	1	0	BUB1	111132694	1.000000	0.71417	0.835000	0.33067	0.976000	0.68499	7.143000	0.77348	2.367000	0.80283	0.528000	0.53228	TCA		0.433	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331925.1	NM_004336		G	111416221	A	G	111416221	3	3	734	1	0	0	0	0	1	0	0	0	1572	333	12	3	1938	3	BUB1	2	111416221	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	566904	111416221	131783152	122	41541											
TMEM177	80775	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	120438454	120438454	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:120438454G>A	ENST00000424086.1	+	2	498	c.25G>A	c.(25-27)Gca>Aca	p.A9T	TMEM177_ENST00000272521.6_Missense_Mutation_p.A9T|TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000401466.1_Missense_Mutation_p.A9T|TMEM177_ENST00000409951.1_Missense_Mutation_p.A9T	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN	transmembrane protein 177	9						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)					GTGGCGGACCGCAGCATTTGT	0.577																																																0													31	32	32					2																	120438454		2203	4300	6503	SO:0001583	missense	80775			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.25G>A	2.37:g.120438454G>A	ENSP00000402661:p.Ala9Thr		Q9BT20	Missense_Mutation	SNP	ENST00000424086.1	37	CCDS2128.1	.	.	.	.	.	.	.	.	.	.	G	3.212	-0.161456	0.06502	.	.	ENSG00000144120	ENST00000401466;ENST00000424086;ENST00000272521;ENST00000445518;ENST00000409951;ENST00000415646	T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26	4.05	-1.07	0.09968	.	0.587988	0.18617	N	0.135983	T	0.10380	0.0254	L	0.47716	1.5	0.09310	N	1	B;B	0.14012	0.009;0.005	B;B	0.10450	0.005;0.003	T	0.25257	-1.0137	10	0.26408	T	0.33	.	0.9877	0.01450	0.3926:0.1542:0.296:0.1572	.	9;9	B8ZZT5;Q53S58	.;TM177_HUMAN	T	9	ENSP00000385966:A9T;ENSP00000402661:A9T;ENSP00000272521:A9T;ENSP00000405898:A9T;ENSP00000386430:A9T	ENSP00000272521:A9T	A	+	1	0	TMEM177	120154924	0.001000	0.12720	0.000000	0.03702	0.267000	0.26476	-0.011000	0.12721	-0.221000	0.09973	0.549000	0.68633	GCA		0.577	TMEM177-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330673.1	NM_030577		A	120438454	G	A	120438454	3	1	734	1	0	0	0	0	1	0	0	0	16099	1087	38	1	27	1	TMEM177	2	120438454	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	9022233	120438454	122760919	123	41542											
BIN1	274	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	127810999	127810999	+	Splice_Site	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:127810999T>C	ENST00000316724.5	-	14	1673	c.1262A>G	c.(1261-1263)gAg>gGg	p.E421G	BIN1_ENST00000393040.3_Intron|BIN1_ENST00000466111.1_Intron|BIN1_ENST00000376113.2_Intron|BIN1_ENST00000351659.3_Intron|BIN1_ENST00000259238.4_Intron|BIN1_ENST00000357970.3_Splice_Site_p.E378G|BIN1_ENST00000346226.3_Intron|BIN1_ENST00000393041.3_Intron|BIN1_ENST00000348750.4_Intron|BIN1_ENST00000409400.1_Intron|BIN1_ENST00000352848.3_Intron	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	421	Clathrin-binding.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|lipid tube assembly (GO:0060988)|muscle cell differentiation (GO:0042692)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of endocytosis (GO:0045807)|positive regulation of GTPase activity (GO:0043547)|regulation of cell cycle arrest (GO:0071156)|regulation of neuron differentiation (GO:0045664)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|axon initial segment (GO:0043194)|axon terminus (GO:0043679)|cerebellar mossy fiber (GO:0044300)|cytoplasm (GO:0005737)|I band (GO:0031674)|lipid tube (GO:0060987)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)|T-tubule (GO:0030315)|varicosity (GO:0043196)|Z disc (GO:0030018)	identical protein binding (GO:0042802)|tau protein binding (GO:0048156)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		GCAGCTTACCTCCCAGAGGTC	0.602																																																0													106	87	93					2																	127810999		2203	4300	6503	SO:0001630	splice_region_variant	274			U68485	CCDS2137.1, CCDS2138.1, CCDS2139.1, CCDS2140.1, CCDS2141.1, CCDS2142.1, CCDS2143.1, CCDS42743.1, CCDS42744.1, CCDS46403.1	2q14	2014-09-17			ENSG00000136717	ENSG00000136717			1052	protein-coding gene	gene with protein product	"amphiphysin II"	601248		AMPHL		8725406, 8782822, 17676042	Standard	NM_004305		Approved	SH3P9, AMPH2	uc002tns.2	O00499	OTTHUMG00000131465	ENST00000316724.5:c.1263+1A>G	2.37:g.127810999T>C			O00297|O00545|O43867|O60552|O60553|O60554|O60555|O75514|O75515|O75516|O75517|O75518|Q659B7|Q92944|Q99688	Missense_Mutation	SNP	ENST00000316724.5	37	CCDS2138.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.187063	0.78789	.	.	ENSG00000136717	ENST00000357970;ENST00000316724	T;T	0.65916	-0.18;-0.18	5.39	5.39	0.77823	.	0.230194	0.34777	N	0.003693	T	0.71195	0.3311	L	0.43152	1.355	0.80722	D	1	P;D	0.71674	0.879;0.998	P;D	0.72982	0.5;0.979	T	0.72290	-0.4337	10	0.51188	T	0.08	-30.8542	12.9831	0.58575	0.0:0.0:0.0:1.0	.	378;421	O00499-5;O00499	.;BIN1_HUMAN	G	378;421	ENSP00000350654:E378G;ENSP00000316779:E421G	ENSP00000316779:E421G	E	-	2	0	BIN1	127527469	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	2.417000	0.44653	2.075000	0.62263	0.454000	0.30748	GAG		0.602	BIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254298.2	NM_139343	Missense_Mutation	C	127810999	T	C	127810999	5	2	734	1	0	0	0	0	0	0	1	0	1432	1565	54	3	543	3	BIN1	2	127810999	Splice_Site	SNP	T	TCGA-KN-8428-01A-11D-2310-10	7372545	127810999	115388374	124	41543											
MYO7B	4648	broad.mit.edu;bcgsc.ca	37	2	128324245	128324245	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:128324245G>A	ENST00000409816.2	+	4	345	c.313G>A	c.(313-315)Gtc>Atc	p.V105I	MYO7B_ENST00000389524.4_Missense_Mutation_p.V105I|MYO7B_ENST00000428314.1_Missense_Mutation_p.V105I			Q6PIF6	MYO7B_HUMAN	myosin VIIB	105	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)		CCTGGTGGCCGTCAACCCGTT	0.637																																																0													26	31	29					2																	128324245		2010	4165	6175	SO:0001583	missense	4648				CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"Myosins / Myosin superfamily : Class VII"	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.313G>A	2.37:g.128324245G>A	ENSP00000386461:p.Val105Ile		Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.154856	0.78114	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816	D;D;D	0.89617	-2.54;-2.54;-2.54	5.55	5.55	0.83447	Myosin head, motor domain (3);	0.000000	0.64402	D	0.000002	D	0.91556	0.7333	L	0.60957	1.885	0.58432	D	0.999997	D	0.76494	0.999	P	0.62491	0.903	D	0.89338	0.3652	10	0.26408	T	0.33	.	13.7612	0.62968	0.0733:0.0:0.9266:0.0	.	105	Q6PIF6	MYO7B_HUMAN	I	105	ENSP00000374175:V105I;ENSP00000415090:V105I;ENSP00000386461:V105I	ENSP00000374175:V105I	V	+	1	0	MYO7B	128040715	1.000000	0.71417	0.992000	0.48379	0.928000	0.56348	4.885000	0.63142	2.595000	0.87683	0.561000	0.74099	GTC		0.637	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		A	128324245	G	A	128324245	3	1	734	1	0	0	0	0	1	0	0	0	10085	1145	40	1	327	1	MYO7B	2	128324245	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	513246	128324245	114875128	125	41544											
RAB3GAP1	22930	ucsc.edu	37	2	135920123	135920123	+	Splice_Site	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:135920123A>G	ENST00000264158.8	+	20	2332		c.e20-1		RAB3GAP1_ENST00000487003.1_Splice_Site|ZRANB3_ENST00000412849.1_5'UTR|RAB3GAP1_ENST00000442034.1_Splice_Site|RAB3GAP1_ENST00000539493.1_Splice_Site	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)						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)		CACCTCCTTCAGGTGCTGCAC	0.488																																																0													42	40	41					2																	135920123		2203	4300	6503	SO:0001630	splice_region_variant	22930			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.2290-1A>G	2.37:g.135920123A>G			A6H8Z3|C9J837|Q659F5|Q8TBB4	Splice_Site	SNP	ENST00000264158.8	37	CCDS33294.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.333142	0.81801	.	.	ENSG00000115839	ENST00000264158;ENST00000539493;ENST00000442034	.	.	.	6.06	6.06	0.98353	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6093	0.84858	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RAB3GAP1	135636593	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	8.574000	0.90763	2.324000	0.78689	0.533000	0.62120	.		0.488	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337514.2	NM_012233	Intron	G	135920123	A	G	135920123	5	3	734	1	0	0	0	0	0	0	1	0	12941	202	7	3	2366	3	RAB3GAP1	2	135920123	Splice_Site	SNP	A	TCGA-KN-8428-01A-11D-2310-10	7595878	135920123	107279250	126	41545											
LCT	3938	broad.mit.edu;bcgsc.ca	37	2	136547323	136547323	+	Missense_Mutation	SNP	G	G	A	rs183725992		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:136547323G>A	ENST00000264162.2	-	16	5391	c.5381C>T	c.(5380-5382)gCg>gTg	p.A1794V		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1794	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)	ATTGTCCATCGCACTCCAAAC	0.483													G|||	1	0.000199681	0.0	0.0014	5008	,	,		21694	0.0		0.0	False		,,,				2504	0.0															0													143	136	138					2																	136547323		2203	4300	6503	SO:0001583	missense	3938			X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.5381C>T	2.37:g.136547323G>A	ENSP00000264162:p.Ala1794Val		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	CCDS2178.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	16.72	3.200915	0.58234	.	.	ENSG00000115850	ENST00000264162	T	0.29397	1.57	5.74	4.49	0.54785	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.758642	0.12190	N	0.491292	T	0.17492	0.0420	N	0.05012	-0.13	0.30009	N	0.81537	B	0.09022	0.002	B	0.12837	0.008	T	0.13818	-1.0495	10	0.52906	T	0.07	-0.198	10.5282	0.44960	0.9161:0.0:0.0839:0.0	.	1794	P09848	LPH_HUMAN	V	1794	ENSP00000264162:A1794V	ENSP00000264162:A1794V	A	-	2	0	LCT	136263793	1.000000	0.71417	0.709000	0.30452	0.987000	0.75469	5.364000	0.66110	0.885000	0.36088	-0.253000	0.11424	GCG		0.483	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		A	136547323	G	A	136547323	3	1	734	1	0	0	0	0	1	0	0	0	8695	1087	38	1	410	1	LCT	2	136547323	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	627200	136547323	106652050	127	41546											
COBLL1	22837	broad.mit.edu;hgsc.bcm.edu	37	2	165578972	165578972	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:165578972delA	ENST00000392717.2	-	6	840	c.836delT	c.(835-837)ttcfs	p.F279fs	COBLL1_ENST00000194871.6_Frame_Shift_Del_p.F307fs|COBLL1_ENST00000342193.4_Frame_Shift_Del_p.F241fs|COBLL1_ENST00000491126.2_Intron|COBLL1_ENST00000375458.2_Frame_Shift_Del_p.F241fs|COBLL1_ENST00000409184.3_Frame_Shift_Del_p.F279fs			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	279						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						AAAAAAACTGAAAAACCCTTT	0.284																																																0													63	69	67					2																	165578972		2202	4299	6501	SO:0001589	frameshift_variant	22837			AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"COBL-like 1"				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.836delT	2.37:g.165578972delA	ENSP00000376478:p.Phe279fs		A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Frame_Shift_Del	DEL	ENST00000392717.2	37																																																																																					0.284	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014900		-	165578972	A	-	165578972	7	5	734	1	0	1	0	1	0	0	0	0	3656	246	9	0	2818	0	COBLL1	2	165578972	Frame_Shift_Del	DEL	A	TCGA-KN-8428-01A-11D-2310-10	29031649	165578972	77620401	128	41547	387	2									
COBLL1	22837	bcgsc.ca	37	2	165578973	165578973	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:165578973delA	ENST00000392717.2	-	6	839	c.835delT	c.(835-837)ttcfs	p.F279fs	COBLL1_ENST00000194871.6_Frame_Shift_Del_p.F307fs|COBLL1_ENST00000342193.4_Frame_Shift_Del_p.F241fs|COBLL1_ENST00000491126.2_Intron|COBLL1_ENST00000375458.2_Frame_Shift_Del_p.F241fs|COBLL1_ENST00000409184.3_Frame_Shift_Del_p.F279fs			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	279						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						AAAAAACTGAAAAACCCTTTA	0.284																																																0													63	69	67					2																	165578973		2202	4299	6501	SO:0001589	frameshift_variant	22837			AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"COBL-like 1"				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.835delT	2.37:g.165578973delA	ENSP00000376478:p.Phe279fs		A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Frame_Shift_Del	DEL	ENST00000392717.2	37																																																																																					0.284	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014900		-	165578973	A	-	165578973	7	5	734	1	0	1	0	1	0	0	0	0	3656	14	1	0	2819	0	COBLL1	2	165578973	Frame_Shift_Del	DEL	A	TCGA-KN-8428-01A-11D-2310-10	1	165578973	77620400	129	41548	387	2									
XIRP2	129446	broad.mit.edu	37	2	168100185	168100185	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:168100185C>T	ENST00000409195.1	+	9	2372	c.2283C>T	c.(2281-2283)gaC>gaT	p.D761D	XIRP2_ENST00000295237.9_Silent_p.D761D|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Silent_p.D539D|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	586					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ACAGAGAAGACGTTGAAAAGG	0.363																																																0													72	67	69					2																	168100185		1861	4088	5949	SO:0001819	synonymous_variant	129446			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.2283C>T	2.37:g.168100185C>T			A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409195.1	37	CCDS42769.1																																																																																				0.363	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		T	168100185	C	T	168100185	2	4	734	1	0	0	0	0	0	0	0	1	17435	535	19	1		1	XIRP2	2	168100185	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	2521212	168100185	75099188	130	41549											
METTL8	79828	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	172182369	172182369	+	Missense_Mutation	SNP	C	C	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:172182369C>G	ENST00000375258.4	-	9	1230	c.1015G>C	c.(1015-1017)Gca>Cca	p.A339P	METTL8_ENST00000463392.1_5'UTR	NM_024770.3	NP_079046.2	Q9H825	METL8_HUMAN	methyltransferase like 8	0						cytoplasm (GO:0005737)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	11						AAGAAATATGCTCTGGTACCA	0.289																																																0													45	45	45					2																	172182369		2199	4294	6493	SO:0001583	missense	79828			AK024046	CCDS2242.1, CCDS2242.2	2q31.1	2012-06-12			ENSG00000123600	ENSG00000123600			25856	protein-coding gene	gene with protein product	"tension-induced/inhibited protein"	609525				15992539	Standard	NM_024770		Approved	FLJ13984, TIP	uc010zdo.2	Q9H825	OTTHUMG00000132261	ENST00000375258.4:c.1015G>C	2.37:g.172182369C>G	ENSP00000364407:p.Ala339Pro		Q53TM9|Q53TQ0	Missense_Mutation	SNP	ENST00000375258.4	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.0|25.0	4.593825|4.593825	0.86953|0.86953	.|.	.|.	ENSG00000123600|ENSG00000123600	ENST00000375258|ENST00000438609	T|.	0.04049|.	3.72|.	5.59|5.59	5.59|5.59	0.84812|0.84812	.|.	0.187532|.	0.47455|.	D|.	0.000222|.	T|T	0.79787|0.79787	0.4506|0.4506	M|M	0.83223|0.83223	2.63|2.63	0.34421|0.34421	D|D	0.697469|0.697469	D;D|.	0.71674|.	0.998;0.995|.	D;P|.	0.64877|.	0.93;0.806|.	D|D	0.85163|0.85163	0.0993|0.0993	10|5	0.66056|.	D|.	0.02|.	-6.4851|-6.4851	19.597|19.597	0.95544|0.95544	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	294;339|.	B4DLT0;B3KW44|.	.;.|.	P|T	339|174	ENSP00000364407:A339P|.	ENSP00000364407:A339P|.	A|S	-|-	1|2	0|0	METTL8|METTL8	171890615|171890615	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	5.366000|5.366000	0.66122|0.66122	2.631000|2.631000	0.89168|0.89168	0.650000|0.650000	0.86243|0.86243	GCA|AGC		0.289	METTL8-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255345.3	NM_024770		G	172182369	C	G	172182369	3	3	734	1	0	0	0	0	1	0	0	0	9509	797	28	4	216	4	METTL8	2	172182369	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	4082184	172182369	71017004	131	41550											
TTN	7273	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	2	179460285	179460285	+	Missense_Mutation	SNP	T	T	C	rs372963343		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:179460285T>C	ENST00000591111.1	-	245	53097	c.52873A>G	c.(52873-52875)Atg>Gtg	p.M17625V	TTN_ENST00000342175.6_Missense_Mutation_p.M10393V|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.M16698V|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.M10326V|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.M10201V|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.M19266V|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17625	Fibronectin type-III 27. {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)			AATGGACCCATGCCAATACTA	0.373																																																0								T	VAL/MET,VAL/MET,VAL/MET,VAL/MET	0,3712		0,0,1856	41	39	39		31177,30976,50092,30601	4.9	1	2		39	1,8197		0,1,4098	no	missense,missense,missense,missense	TTN	NM_133437.3,NM_133432.3,NM_133378.4,NM_003319.4	21,21,21,21	0,1,5954	CC,CT,TT		0.0122,0.0,0.0084	benign,benign,benign,benign	10393/27119,10326/27052,16698/33424,10201/26927	179460285	1,11909	1856	4099	5955	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.52873A>G	2.37:g.179460285T>C	ENSP00000465570:p.Met17625Val		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		.	.	.	.	.	.	.	.	.	.	T	14.31	2.496259	0.44352	0.0	1.22E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.51574	0.7;0.7;0.7;0.7	6.07	4.9	0.64082	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.23611	0.0571	N	0.01410	-0.885	0.33765	D	0.622356	B;B;B;B	0.09022	0.002;0.002;0.002;0.002	B;B;B;B	0.14578	0.006;0.006;0.011;0.011	T	0.22591	-1.0212	9	0.87932	D	0	.	13.5887	0.61946	0.0:0.0:0.1296:0.8704	.	10201;10326;10393;17625	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	16698;10201;10393;10326;10199	ENSP00000343764:M16698V;ENSP00000434586:M10201V;ENSP00000340554:M10393V;ENSP00000352154:M10326V	ENSP00000340554:M10393V	M	-	1	0	TTN	179168531	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.991000	0.88244	1.099000	0.41499	0.477000	0.44152	ATG		0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		C	179460285	T	C	179460285	3	2	734	1	0	0	0	0	1	0	0	0	16740	1464	51	3	50455	3	TTN	2	179460285	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	7277916	179460285	63739088	132	41551											
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	2	179578856	179578856	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:179578856C>T	ENST00000591111.1	-	90	25802	c.25578G>A	c.(25576-25578)acG>acA	p.T8526T	TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.T7599T|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Silent_p.T8843T|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12691	Ig-like 68.				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.T7599T(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)			AGGTGTCTCCCGTGGTAACTT	0.378																																																1	Substitution - coding silent(1)	central_nervous_system(1)											69	63	65					2																	179578856		1834	4090	5924	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.25578G>A	2.37:g.179578856C>T			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179578856	C	T	179578856	2	4	734	1	0	0	0	0	0	0	0	1	16740	639	23	1		1	TTN	2	179578856	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	118571	179578856	63620517	133	41552											
STAT1	6772	ucsc.edu;bcgsc.ca	37	2	191848415	191848415	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:191848415C>T	ENST00000361099.3	-	17	1786	c.1399G>A	c.(1399-1401)Ggt>Agt	p.G467S	STAT1_ENST00000392322.3_Missense_Mutation_p.G467S|STAT1_ENST00000392323.2_Missense_Mutation_p.G469S|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Missense_Mutation_p.G467S	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	467					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)			GAGGCCCAACCGCTCGGGAGC	0.527																																																0													114	108	110					2																	191848415		2203	4300	6503	SO:0001583	missense	6772				CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"SH2 domain containing"	11362	protein-coding gene	gene with protein product	"transcription factor ISGF-3 components p91/p84"	600555	"signal transducer and activator of transcription 1, 91kD"			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.1399G>A	2.37:g.191848415C>T	ENSP00000354394:p.Gly467Ser		A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Missense_Mutation	SNP	ENST00000361099.3	37	CCDS2309.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.763457	0.89932	.	.	ENSG00000115415	ENST00000361099;ENST00000409465;ENST00000392322;ENST00000392323	T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05	5.19	5.19	0.71726	STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);EF-hand-like domain (1);	0.044894	0.85682	D	0.000000	D	0.84352	0.5453	L	0.46614	1.455	0.80722	D	1	D;P	0.71674	0.998;0.581	D;B	0.66351	0.943;0.227	D	0.83613	0.0135	10	0.48119	T	0.1	-22.6387	19.2755	0.94030	0.0:1.0:0.0:0.0	.	467;467	P42224-2;P42224	.;STAT1_HUMAN	S	467;467;467;469	ENSP00000354394:G467S;ENSP00000386244:G467S;ENSP00000376136:G467S;ENSP00000376137:G469S	ENSP00000354394:G467S	G	-	1	0	STAT1	191556660	1.000000	0.71417	0.244000	0.24202	0.510000	0.34073	7.609000	0.82925	2.865000	0.98341	0.655000	0.94253	GGT		0.527	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255997.3	NM_007315		T	191848415	C	T	191848415	3	4	734	1	0	0	0	0	1	0	0	0	15269	652	23	1	893	1	STAT1	2	191848415	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	12269559	191848415	51350958	134	41553											
HSPD1	3329	broad.mit.edu;bcgsc.ca	37	2	198353083	198353083	+	Missense_Mutation	SNP	C	C	T	rs531108523		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:198353083C>T	ENST00000388968.3	-	10	1615	c.1348G>A	c.(1348-1350)Gcc>Acc	p.A450T	HSPD1_ENST00000345042.2_Missense_Mutation_p.A450T	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	450					'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)			GAGTCCAAGGCTGGAATGCAT	0.393																																																0													52	50	51					2																	198353083		2203	4300	6503	SO:0001583	missense	3329			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.1348G>A	2.37:g.198353083C>T	ENSP00000373620:p.Ala450Thr		B2R5M6|B7Z712|Q38L19|Q9UCR6	Missense_Mutation	SNP	ENST00000388968.3	37	CCDS33357.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.465020	0.63513	.	.	ENSG00000144381	ENST00000388968;ENST00000345042	T;T	0.79033	-1.23;-1.23	5.39	5.39	0.77823	.	0.148886	0.64402	D	0.000014	T	0.81550	0.4846	M	0.63428	1.95	0.80722	D	1	B;B;P	0.40000	0.026;0.026;0.698	B;B;P	0.45753	0.056;0.056;0.492	T	0.81627	-0.0847	10	0.49607	T	0.09	-3.9209	19.5044	0.95110	0.0:1.0:0.0:0.0	.	441;450;450	B7Z597;B3GQS7;P10809	.;.;CH60_HUMAN	T	450	ENSP00000373620:A450T;ENSP00000340019:A450T	ENSP00000340019:A450T	A	-	1	0	HSPD1	198061328	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.512000	0.53407	2.685000	0.91497	0.555000	0.69702	GCC		0.393	HSPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335324.2	NM_002156		T	198353083	C	T	198353083	3	4	734	1	0	0	0	0	1	0	0	0	7430	797	28	2	385	2	HSPD1	2	198353083	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	6504668	198353083	44846290	135	41554											
NBEAL1	65065	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	204002940	204002940	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:204002940A>G	ENST00000449802.1	+	29	4867	c.4534A>G	c.(4534-4536)Aat>Gat	p.N1512D		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1512										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						AGCAAAAACTAATCCAGTAAC	0.393																																																0													96	86	89					2																	204002940		1854	4093	5947	SO:0001583	missense	65065			AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"WD repeat domain containing"	20681	protein-coding gene	gene with protein product		609816	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17", "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.4534A>G	2.37:g.204002940A>G	ENSP00000399903:p.Asn1512Asp		A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	ENST00000449802.1	37	CCDS46495.1	.	.	.	.	.	.	.	.	.	.	A	7.467	0.645890	0.14451	.	.	ENSG00000144426	ENST00000449802;ENST00000340268	T	0.52295	0.67	5.61	5.61	0.85477	.	0.339152	0.26156	N	0.026006	T	0.35508	0.0934	L	0.40543	1.245	0.09310	N	1	B;B	0.19817	0.039;0.039	B;B	0.16722	0.016;0.016	T	0.22208	-1.0223	10	0.09843	T	0.71	.	11.1297	0.48339	0.7252:0.2748:0.0:0.0	.	1512;1501	Q6ZS30;C9JGK5	NBEL1_HUMAN;.	D	1512	ENSP00000399903:N1512D	ENSP00000344985:N1512D	N	+	1	0	NBEAL1	203711185	0.982000	0.34865	0.669000	0.29828	0.995000	0.86356	5.109000	0.64615	2.141000	0.66446	0.533000	0.62120	AAT		0.393	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4			G	204002940	A	G	204002940	3	3	734	1	0	0	0	0	1	0	0	0	10190	362	13	3	4644	3	NBEAL1	2	204002940	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	5649857	204002940	39196433	136	41555											
PIKFYVE	200576	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	209214769	209214769	+	Missense_Mutation	SNP	C	C	T	rs147015179		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:209214769C>T	ENST00000264380.4	+	36	5554	c.5396C>T	c.(5395-5397)aCa>aTa	p.T1799I		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1799	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				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)	p.T1799I(1)		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						GGAGGAGATACACAAAAGAAG	0.348													C|||	1	0.000199681	0.0	0.0014	5008	,	,		13680	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	large_intestine(1)						C	ILE/THR	1,4405	2.1+/-5.4	0,1,2202	115	117	116		5396	4.9	1	2	dbSNP_134	116	0,8598		0,0,4299	no	missense	PIKFYVE	NM_015040.3	89	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	benign	1799/2099	209214769	1,13003	2203	4299	6502	SO:0001583	missense	200576			AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"Zinc fingers, FYVE domain containing"	23785	protein-coding gene	gene with protein product	"zinc finger, FYVE domain containing 29"	609414	"phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.5396C>T	2.37:g.209214769C>T	ENSP00000264380:p.Thr1799Ile		Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	CCDS2382.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	14.04	2.417161	0.42918	2.27E-4	0.0	ENSG00000115020	ENST00000264380	T	0.29397	1.57	5.75	4.87	0.63330	Phosphatidylinositol-4-phosphate 5-kinase, core (1);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.527367	0.21560	N	0.072593	T	0.16685	0.0401	N	0.14661	0.345	0.80722	D	1	B	0.17038	0.02	B	0.15484	0.013	T	0.07195	-1.0785	10	0.37606	T	0.19	0.2043	6.1812	0.20472	0.1366:0.6582:0.1323:0.0728	.	1799	Q9Y2I7	FYV1_HUMAN	I	1799	ENSP00000264380:T1799I	ENSP00000264380:T1799I	T	+	2	0	PIKFYVE	208923014	0.996000	0.38824	0.959000	0.39883	0.981000	0.71138	2.550000	0.45811	1.436000	0.47453	0.655000	0.94253	ACA		0.348	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		T	209214769	C	T	209214769	3	4	734	1	0	0	0	0	1	0	0	0	11926	478	17	2	5545	2	PIKFYVE	2	209214769	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	5211829	209214769	33984604	137	41556											
ACCN4	55515	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	220379312	220379312	+	Missense_Mutation	SNP	C	C	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:220379312C>A	ENST00000347842.3	+	1	261	c.247C>A	c.(247-249)Cct>Act	p.P83T	ASIC4_ENST00000358078.4_Missense_Mutation_p.P83T|AC053503.11_ENST00000429882.1_RNA	NM_182847.2	NP_878267.2	Q96FT7	ASIC4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	83					ion transmembrane transport (GO:0034220)|sodium ion transmembrane transport (GO:0035725)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)	ion channel activity (GO:0005216)|sodium channel activity (GO:0005272)|sodium ion transmembrane transporter activity (GO:0015081)										CCACCCTGTCCCTGTCCTCTT	0.687																																																0													12	13	13					2																	220379312		2190	4291	6481	SO:0001583	missense	55515			AJ271643	CCDS2442.1	2q36.1	2012-02-22	2012-02-22	2012-02-22	ENSG00000072182	ENSG00000072182		"Ion channels / Acid-sensing (proton-gated) ion channels"	21263	protein-coding gene	gene with protein product		606715	"amiloride-sensitive cation channel 4, pituitary", "amiloride-sensitive cation channel family member 4, pituitary"	ACCN4		10852210	Standard	NM_182847		Approved	BNAC4	uc002vma.3	Q96FT7	OTTHUMG00000058928	ENST00000347842.3:c.247C>A	2.37:g.220379312C>A	ENSP00000326627:p.Pro83Thr		Q53SB7|Q6GMS1|Q6PIN9|Q9NQA4	Missense_Mutation	SNP	ENST00000347842.3	37	CCDS2442.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.922747	0.52653	.	.	ENSG00000072182	ENST00000347842;ENST00000358078	T;T	0.67171	-0.24;-0.25	4.73	3.85	0.44370	.	.	.	.	.	T	0.45498	0.1345	N	0.08118	0	0.27326	N	0.956917	B;B;B	0.31174	0.063;0.103;0.311	B;B;B	0.30646	0.026;0.058;0.118	T	0.39722	-0.9600	9	0.49607	T	0.09	-2.4131	9.1116	0.36732	0.0:0.8966:0.0:0.1034	.	83;83;83	Q96FT7;Q96FT7-4;Q96FT7-2	ACCN4_HUMAN;.;.	T	83	ENSP00000326627:P83T;ENSP00000350786:P83T	ENSP00000326627:P83T	P	+	1	0	ACCN4	220087556	0.582000	0.26749	0.526000	0.27913	0.817000	0.46193	2.772000	0.47678	1.103000	0.41568	0.561000	0.74099	CCT		0.687	ASIC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130263.1	NM_018674		A	220379312	C	A	220379312	3	1	734	1	0	0	0	0	1	0	0	0	131	623	22	4	249	4	ACCN4	2	220379312	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	11164543	220379312	22820061	138	41557											
OBSL1	23363	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	2	220435086	220435086	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:220435086C>T	ENST00000404537.1	-	1	925	c.869G>A	c.(868-870)cGc>cAc	p.R290H	OBSL1_ENST00000603926.1_Missense_Mutation_p.R290H|OBSL1_ENST00000491370.1_5'Flank|INHA_ENST00000243786.2_5'Flank|INHA_ENST00000489456.1_Intron|OBSL1_ENST00000373876.1_Missense_Mutation_p.R290H|OBSL1_ENST00000265318.4_Missense_Mutation_p.R290H|OBSL1_ENST00000373873.4_Missense_Mutation_p.R290H|OBSL1_ENST00000289656.3_Intron	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	290	Ig-like 3.				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)		GAGGCGGCGGCGGTCCGGGAG	0.682																																																0													20	26	24					2																	220435086		2007	4140	6147	SO:0001583	missense	23363			BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.869G>A	2.37:g.220435086C>T	ENSP00000385636:p.Arg290His		A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	ENST00000404537.1	37	CCDS46520.1	.	.	.	.	.	.	.	.	.	.	C	35	5.526696	0.96431	.	.	ENSG00000124006	ENST00000265318;ENST00000404537;ENST00000373876;ENST00000373873	T;T;T;T	0.73047	-0.71;-0.71;-0.71;-0.71	4.39	4.39	0.52855	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.81182	0.4769	L	0.54965	1.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.82246	-0.0552	9	0.52906	T	0.07	.	17.4831	0.87679	0.0:1.0:0.0:0.0	.	290;290	O75147;O75147-2	OBSL1_HUMAN;.	H	290	ENSP00000265318:R290H;ENSP00000385636:R290H;ENSP00000362983:R290H;ENSP00000362980:R290H	ENSP00000265318:R290H	R	-	2	0	OBSL1	220143330	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.751000	0.68720	2.434000	0.82447	0.407000	0.27541	CGC		0.682	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1			T	220435086	C	T	220435086	3	4	734	1	0	0	0	0	1	0	0	0	10815	768	27	1	5057	1	OBSL1	2	220435086	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	55774	220435086	22764287	139	41558											
DOCK10	55619	broad.mit.edu	37	2	225684245	225684245	+	Splice_Site	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:225684245C>T	ENST00000258390.7	-	29	3252	c.3185G>A	c.(3184-3186)cGc>cAc	p.R1062H	DOCK10_ENST00000409592.3_Splice_Site_p.R1056H	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1062					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)			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)		TGTAAAGCAGCGCTAAAATAG	0.308																																																0													88	84	85					2																	225684245		1817	4072	5889	SO:0001630	splice_region_variant	55619			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.3184-1G>A	2.37:g.225684245C>T			B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.944537	0.73672	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	T;T	0.24538	1.85;1.85	6.15	6.15	0.99193	.	0.000000	0.85682	D	0.000000	T	0.58864	0.2152	M	0.83118	2.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	T	0.60026	-0.7343	10	0.87932	D	0	.	20.8387	0.99724	0.0:1.0:0.0:0.0	.	1062;1056	Q96BY6;B3FL70	DOC10_HUMAN;.	H	1056;1062	ENSP00000386694:R1056H;ENSP00000258390:R1062H	ENSP00000258390:R1062H	R	-	2	0	DOCK10	225392489	1.000000	0.71417	1.000000	0.80357	0.272000	0.26649	4.856000	0.62932	2.932000	0.99384	0.643000	0.83706	CGC		0.308	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1		Missense_Mutation	T	225684245	C	T	225684245	5	4	734	1	0	0	0	0	0	0	1	0	4687	782	27	1	3487	1	DOCK10	2	225684245	Splice_Site	SNP	C	TCGA-KN-8428-01A-11D-2310-10	5249159	225684245	17515128	140	41559											
PID1	55022	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	230127481	230127481	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:230127481G>A	ENST00000392054.3	-	2	380	c.41C>T	c.(40-42)tCg>tTg	p.S14L	PID1_ENST00000392055.3_Intron|PID1_ENST00000409462.1_Intron	NM_017933.4	NP_060403.3	Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	0					cellular response to cytokine stimulus (GO:0071345)|cellular response to fatty acid (GO:0071398)|cellular response to interleukin-6 (GO:0071354)|cellular response to leptin stimulus (GO:0044320)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|mitochondrion morphogenesis (GO:0070584)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of mitochondrial DNA replication (GO:0090298)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of fat cell proliferation (GO:0070346)|positive regulation of gene expression (GO:0010628)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of mitochondrial fusion (GO:0010635)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		acatgtcctcgactcttctaa	0.468																																																0													211	207	208					2																	230127481		1327	2309	3636	SO:0001583	missense	55022			AK096636	CCDS2471.1, CCDS42830.1	2q36.3	2007-02-02			ENSG00000153823	ENSG00000153823			26084	protein-coding gene	gene with protein product		612930				17124247, 16815647, 15221005	Standard	NM_001100818		Approved	NYGGF4, FLJ20701	uc002vps.4	Q7Z2X4	OTTHUMG00000133191	ENST00000392054.3:c.41C>T	2.37:g.230127481G>A	ENSP00000375907:p.Ser14Leu		B3KU82|Q68CJ2|Q6ZUS3|Q8IXL0|Q9NWP6	Missense_Mutation	SNP	ENST00000392054.3	37	CCDS2471.1	.	.	.	.	.	.	.	.	.	.	G	8.942	0.966064	0.18659	.	.	ENSG00000153823	ENST00000392054	.	.	.	2.98	-2.74	0.05932	.	.	.	.	.	T	0.21509	0.0518	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21895	-1.0232	6	.	.	.	.	5.5214	0.16936	0.2302:0.493:0.2769:0.0	.	14	Q7Z2X4-2	.	L	14	.	.	S	-	2	0	PID1	229835725	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.752000	0.04797	-0.680000	0.05211	-0.371000	0.07208	TCG		0.468	PID1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331809.1	NM_017933		A	230127481	G	A	230127481	3	1	734	1	0	0	0	0	1	0	0	0	11884	1059	37	1	717	1	PID1	2	230127481	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	4443236	230127481	13071892	141	41560											
C2orf57	165100	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	232458786	232458786	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:232458786C>T	ENST00000313965.2	+	1	1212	c.1124C>T	c.(1123-1125)gCc>gTc	p.A375V		NM_152614.2	NP_689827.2	Q53QW1	CB057_HUMAN	chromosome 2 open reading frame 57	375										endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		ATCCGCTCAGCCATGCGCTAC	0.647																																																0													49	45	46					2																	232458786		2203	4300	6503	SO:0001583	missense	165100			BC034405	CCDS2487.1	2q37.1	2008-02-05			ENSG00000177673	ENSG00000177673			28563	protein-coding gene	gene with protein product						12477932	Standard	NM_152614		Approved	MGC35154	uc002vrz.3	Q53QW1	OTTHUMG00000133226	ENST00000313965.2:c.1124C>T	2.37:g.232458786C>T	ENSP00000315557:p.Ala375Val		Q8N4F2	Missense_Mutation	SNP	ENST00000313965.2	37	CCDS2487.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.593729	0.46214	.	.	ENSG00000177673	ENST00000313965	T	0.30448	1.53	5.15	5.15	0.70609	.	0.249622	0.21052	N	0.080972	T	0.43344	0.1243	L	0.29908	0.895	0.09310	N	0.999999	D	0.76494	0.999	D	0.76071	0.987	T	0.26883	-1.0090	10	0.72032	D	0.01	.	13.9928	0.64378	0.0:1.0:0.0:0.0	.	375	Q53QW1	CB057_HUMAN	V	375	ENSP00000315557:A375V	ENSP00000315557:A375V	A	+	2	0	C2orf57	232167030	0.629000	0.27146	0.081000	0.20488	0.037000	0.13140	3.303000	0.51858	2.683000	0.91414	0.557000	0.71058	GCC		0.647	C2orf57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256962.1	NM_152614		T	232458786	C	T	232458786	3	4	734	1	0	0	0	0	1	0	0	0	2180	739	26	2	1126	2	C2orf57	2	232458786	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	2331305	232458786	10740587	142	41561											
ILKAP	80895	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	239079272	239079272	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:239079272G>A	ENST00000254654.3	-	12	1259	c.1084C>T	c.(1084-1086)Cgc>Tgc	p.R362C		NM_030768.2	NP_110395.1	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated serine/threonine phosphatase	362	PP2C-like.				protein dephosphorylation (GO:0006470)|regulation of nuclear cell cycle DNA replication (GO:0033262)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		GCTTCGTAGCGGGCGTCGGCT	0.607																																																0													43	43	43					2																	239079272		2203	4300	6503	SO:0001583	missense	80895			AY024365	CCDS2526.1	2q37.3	2012-04-17	2010-10-25		ENSG00000132323	ENSG00000132323	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	15566	protein-coding gene	gene with protein product			"integrin-linked kinase-associated serine/threonine phosphatase 2C"				Standard	NM_030768		Approved	DKFZP434J2031, FLJ10181	uc002vxv.3	Q9H0C8	OTTHUMG00000133334	ENST00000254654.3:c.1084C>T	2.37:g.239079272G>A	ENSP00000254654:p.Arg362Cys		B3KM39	Missense_Mutation	SNP	ENST00000254654.3	37	CCDS2526.1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.464041	0.63513	.	.	ENSG00000132323	ENST00000254654	T	0.17691	2.26	5.69	4.74	0.60224	Protein phosphatase 2C-like (5);	0.112628	0.64402	D	0.000012	T	0.35422	0.0931	L	0.58101	1.795	0.54753	D	0.999988	D	0.76494	0.999	D	0.65443	0.935	T	0.01185	-1.1425	10	0.38643	T	0.18	-0.4038	15.2411	0.73471	0.0:0.0:0.8185:0.1815	.	362	Q9H0C8	ILKAP_HUMAN	C	362	ENSP00000254654:R362C	ENSP00000254654:R362C	R	-	1	0	ILKAP	238744011	1.000000	0.71417	1.000000	0.80357	0.719000	0.41307	3.097000	0.50251	2.688000	0.91661	0.563000	0.77884	CGC		0.607	ILKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257163.2	NM_030768		A	239079272	G	A	239079272	3	1	734	1	0	0	0	0	1	0	0	0	7716	1116	39	1	98	1	ILKAP	2	239079272	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	6620486	239079272	4120101	143	41562											
TRNT1	51095	broad.mit.edu	37	3	3179092	3179092	+	Silent	SNP	G	G	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:3179092G>C	ENST00000251607.6	+	3	399	c.297G>C	c.(295-297)cgG>cgC	p.R99R	TRNT1_ENST00000280591.6_Silent_p.R99R	NM_182916.2	NP_886552	Q96Q11	TRNT1_HUMAN	tRNA nucleotidyl transferase, CCA-adding, 1	99					protein targeting to mitochondrion (GO:0006626)|tRNA 3'-end processing (GO:0042780)|tRNA 3'-terminal CCA addition (GO:0001680)	intracellular (GO:0005622)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP:3'-cytidine-cytidine-tRNA adenylyltransferase activity (GO:0052929)|CTP:3'-cytidine-tRNA cytidylyltransferase activity (GO:0052928)|CTP:tRNA cytidylyltransferase activity (GO:0052927)|tRNA adenylyltransferase activity (GO:0004810)|tRNA binding (GO:0000049)			breast(2)|endometrium(3)|large_intestine(4)|lung(2)|urinary_tract(1)	12				Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011)		CTGGGATTCGGATGATAAACA	0.393																																																0													78	81	80					3																	3179092		2203	4300	6503	SO:0001819	synonymous_variant	51095			AF151805	CCDS2561.2	3p25.1	2002-05-30			ENSG00000072756	ENSG00000072756	2.7.7.25		17341	protein-coding gene	gene with protein product		612907				10810093, 11504732	Standard	NM_182916		Approved	MtCCA, CGI-47, CCA1	uc003bpp.4	Q96Q11	OTTHUMG00000090259	ENST00000251607.6:c.297G>C	3.37:g.3179092G>C			A8K2Z6|B7WP13|C9JKA2|Q8ND57|Q9BS97|Q9Y362	Silent	SNP	ENST00000251607.6	37	CCDS2561.2																																																																																				0.393	TRNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337616.1			C	3179092	G	C	3179092	2	2	734	1	0	0	0	0	0	0	0	1	16578	1161	41	4		4	TRNT1	3	3179092	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10		3179092	194843338	144	41563											
CIDEC	63924	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	3	9918797	9918797	+	Missense_Mutation	SNP	C	C	T	rs148744468		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:9918797C>T	ENST00000336832.2	-	3	299	c.160G>A	c.(160-162)Gtg>Atg	p.V54M	CIDEC_ENST00000383817.1_Missense_Mutation_p.V54M|CIDEC_ENST00000430427.1_Missense_Mutation_p.V54M|CIDEC_ENST00000423850.1_Intron|CIDEC_ENST00000443115.1_Missense_Mutation_p.V54M|CIDEC_ENST00000455015.1_Intron	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	54	CIDE-N. {ECO:0000255|PROSITE- ProRule:PRU00447}.				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)					CCCTTCCTCACGCTTCGATCC	0.647																																																0								C	MET/VAL,MET/VAL,MET/VAL,MET/VAL	0,4330		0,0,2165	54	42	46		160,160,199,160	1.5	0.1	3	dbSNP_134	46	1,8485		0,1,4242	no	missense,missense,missense,missense	CIDEC	NM_001199551.1,NM_001199552.1,NM_001199623.1,NM_022094.3	21,21,21,21	0,1,6407	TT,TC,CC		0.0118,0.0,0.0078	probably-damaging,probably-damaging,probably-damaging,probably-damaging	54/249,54/239,67/252,54/239	9918797	1,12815	2165	4243	6408	SO:0001583	missense	63924				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.160G>A	3.37:g.9918797C>T	ENSP00000338642:p.Val54Met		C9JMN7|Q67DW9|Q9GZY9	Missense_Mutation	SNP	ENST00000336832.2	37	CCDS2587.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.631938	0.29068	0.0	1.18E-4	ENSG00000187288	ENST00000336832;ENST00000383817;ENST00000430427;ENST00000443115	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	5.3	1.45	0.22620	Caspase-activated nuclease CIDE-N (3);	0.483231	0.22273	N	0.062225	T	0.32556	0.0833	M	0.76574	2.34	0.09310	N	1	P;P;B	0.47034	0.889;0.586;0.063	B;B;B	0.34138	0.154;0.176;0.044	T	0.29941	-0.9995	10	0.45353	T	0.12	-14.8423	5.16	0.15056	0.0:0.4801:0.2798:0.2401	.	54;54;54	Q96AQ7-3;Q96AQ7;C9JMN7	.;CIDEC_HUMAN;.	M	54	ENSP00000338642:V54M;ENSP00000373328:V54M;ENSP00000408631:V54M;ENSP00000411356:V54M	ENSP00000338642:V54M	V	-	1	0	CIDEC	9893797	0.000000	0.05858	0.055000	0.19348	0.047000	0.14425	-0.264000	0.08658	0.377000	0.24735	-0.133000	0.14855	GTG		0.647	CIDEC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250334.1	NM_022094		T	9918797	C	T	9918797	3	4	734	1	0	0	0	0	1	0	0	0	3429	536	19	1	572	1	CIDEC	3	9918797	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	6739705	9918797	188103633	145	41564											
SLC6A11	6538	broad.mit.edu;ucsc.edu;mdanderson.org	37	3	10960101	10960101	+	Silent	SNP	C	C	T	rs144421280	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:10960101C>T	ENST00000254488.2	+	8	1149	c.1083C>T	c.(1081-1083)taC>taT	p.Y361Y		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	361					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)	TTATGGCGTACGAGCAGGGGG	0.572													C|||	2	0.000399361	0.0	0.0	5008	,	,		20821	0.002		0.0	False		,,,				2504	0.0															0													124	102	110					3																	10960101		2203	4300	6503	SO:0001819	synonymous_variant	6538			S75989	CCDS2602.1	3p25.3	2013-07-19	2013-07-19		ENSG00000132164	ENSG00000132164		"Solute carriers"	11044	protein-coding gene	gene with protein product	"GABA transporter 3"	607952	"solute carrier family 6 (neurotransmitter transporter, GABA), member 11"			7874447	Standard	NM_014229		Approved	GAT3	uc003bvz.3	P48066	OTTHUMG00000129718	ENST00000254488.2:c.1083C>T	3.37:g.10960101C>T			B2R6U6|Q8IYC9	Silent	SNP	ENST00000254488.2	37	CCDS2602.1																																																																																				0.572	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251927.1	NM_014229		T	10960101	C	T	10960101	2	4	734	1	0	0	0	0	0	0	0	1	14680	547	19	1		1	SLC6A11	3	10960101	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1041304	10960101	187062329	146	41565											
CAND2	23066	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	3	12858741	12858741	+	Silent	SNP	G	G	A	rs371560476		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:12858741G>A	ENST00000456430.2	+	10	2351	c.2310G>A	c.(2308-2310)ccG>ccA	p.P770P	CAND2_ENST00000295989.5_Silent_p.P677P	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	770					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CCCGTCCCCCGTGTGTGGACT	0.627																																					GBM(43;676 868 1633 6395 37496)											0								G	,	0,4074		0,0,2037	41	45	43		2310,2031	-8.3	0	3		43	1,8363		0,1,4181	no	coding-synonymous,coding-synonymous	CAND2	NM_001162499.1,NM_012298.2	,	0,1,6218	AA,AG,GG		0.012,0.0,0.0080	,	770/1237,677/1120	12858741	1,12437	2037	4182	6219	SO:0001819	synonymous_variant	23066				CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"TBP interacting protein"	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.2310G>A	3.37:g.12858741G>A			B9EGM9|E9KL24	Silent	SNP	ENST00000456430.2	37	CCDS54554.1																																																																																				0.627	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	XM_371617		A	12858741	G	A	12858741	2	1	734	1	0	0	0	0	0	0	0	1	2618	1132	40	1		1	CAND2	3	12858741	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1898640	12858741	185163689	147	41566											
C3orf20	84077	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	3	14724594	14724594	+	Missense_Mutation	SNP	G	G	A	rs145497672		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:14724594G>A	ENST00000253697.3	+	3	826	c.374G>A	c.(373-375)cGt>cAt	p.R125H	C3orf20_ENST00000435614.1_Missense_Mutation_p.R3H|C3orf20_ENST00000412910.1_Missense_Mutation_p.R3H	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	125						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						ACCATGGCCCGTCAGGTGCGC	0.622													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18501	0.0		0.0	False		,,,				2504	0.0															0								G	HIS/ARG,HIS/ARG,HIS/ARG	4,4402	8.1+/-20.4	0,4,2199	48	47	48		8,8,374	-7.1	0	3	dbSNP_134	48	0,8600		0,0,4300	yes	missense,missense,missense	C3orf20	NM_001184957.1,NM_001184958.1,NM_032137.4	29,29,29	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	benign,benign,benign	3/783,3/783,125/905	14724594	4,13002	2203	4300	6503	SO:0001583	missense	84077			AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.374G>A	3.37:g.14724594G>A	ENSP00000253697:p.Arg125His		Q7L0U6|Q8NCP2|Q9H0I7	Missense_Mutation	SNP	ENST00000253697.3	37	CCDS33706.1	.	.	.	.	.	.	.	.	.	.	G	10.13	1.265751	0.23136	9.08E-4	0.0	ENSG00000131379	ENST00000253697;ENST00000435614;ENST00000412910	T;T;T	0.09350	3.37;2.99;2.99	4.51	-7.14	0.01527	.	1.704600	0.03351	N	0.196276	T	0.05914	0.0154	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.31641	-0.9936	10	0.27082	T	0.32	1.064	10.1083	0.42546	0.6525:0.0982:0.2493:0.0	.	125	Q8ND61	CC020_HUMAN	H	125;3;3	ENSP00000253697:R125H;ENSP00000402933:R3H;ENSP00000396081:R3H	ENSP00000253697:R125H	R	+	2	0	C3orf20	14699598	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.418000	0.02462	-1.708000	0.01401	-1.864000	0.00558	CGT		0.622	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340586.1	NM_032137		A	14724594	G	A	14724594	3	1	734	1	0	0	0	0	1	0	0	0	2215	1145	40	1	376	1	C3orf20	3	14724594	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1865853	14724594	183297836	148	41567											
EFHB	151651	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	3	19921161	19921161	+	Missense_Mutation	SNP	G	G	A	rs368362844		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:19921161G>A	ENST00000295824.9	-	13	2625	c.2464C>T	c.(2464-2466)Cgg>Tgg	p.R822W	EFHB_ENST00000344838.4_Missense_Mutation_p.R692W	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	822							calcium ion binding (GO:0005509)			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						TCTGCATGCCGTAGCTCATCT	0.343																																																0								G	TRP/ARG	0,4406		0,0,2203	226	207	214		2464	4.7	0	3		214	1,8599	1.2+/-3.3	0,1,4299	no	missense	EFHB	NM_144715.3	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	822/834	19921161	1,13005	2203	4300	6503	SO:0001583	missense	151651			AK122616	CCDS33715.2	3p24.3	2014-07-18			ENSG00000163576	ENSG00000163576		"EF-hand domain containing"	26330	protein-coding gene	gene with protein product	"cilia and flagella associated protein 21"					12477932	Standard	NM_144715		Approved	FLJ25200, CFAP21	uc003cbl.4	Q8N7U6	OTTHUMG00000150505	ENST00000295824.9:c.2464C>T	3.37:g.19921161G>A	ENSP00000295824:p.Arg822Trp		A6ND25|A8MPR3|Q6ZWK9|Q8IV58|Q96LQ6	Missense_Mutation	SNP	ENST00000295824.9	37	CCDS33715.2	.	.	.	.	.	.	.	.	.	.	G	11.05	1.526148	0.27299	0.0	1.16E-4	ENSG00000163576	ENST00000295824;ENST00000344838	T;T	0.24350	1.86;1.87	5.57	4.7	0.59300	.	0.302763	0.31167	N	0.008136	T	0.16085	0.0387	N	0.14661	0.345	0.09310	N	1	P;D	0.56968	0.923;0.978	B;B	0.43916	0.436;0.226	T	0.07290	-1.0780	9	.	.	.	-0.4946	10.3889	0.44156	0.0901:0.0:0.9099:0.0	.	692;822	Q8N7U6-3;Q8N7U6	.;EFHB_HUMAN	W	822;692	ENSP00000295824:R822W;ENSP00000342263:R692W	.	R	-	1	2	EFHB	19896165	0.516000	0.26218	0.037000	0.18230	0.109000	0.19521	1.787000	0.38704	1.360000	0.45960	-0.136000	0.14681	CGG		0.343	EFHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318673.2	NM_144715		A	19921161	G	A	19921161	3	1	734	1	0	0	0	0	1	0	0	0	4947	1144	40	1	41	1	EFHB	3	19921161	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	5196567	19921161	178101269	149	41568											
GADL1	339896	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	3	30769804	30769804	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:30769804C>T	ENST00000282538.5	-	15	1646	c.1496G>A	c.(1495-1497)aGc>aAc	p.S499N	GADL1_ENST00000498387.1_5'UTR	NM_207359.2	NP_997242.2	Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	499					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						CACTTGAGGGCTGATCACCAC	0.552																																																0													130	119	123					3																	30769804		2203	4300	6503	SO:0001583	missense	339896			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.1496G>A	3.37:g.30769804C>T	ENSP00000282538:p.Ser499Asn			Missense_Mutation	SNP	ENST00000282538.5	37	CCDS2649.2	.	.	.	.	.	.	.	.	.	.	C	4.865	0.160842	0.09287	.	.	ENSG00000144644	ENST00000282538	T	0.32753	1.44	5.91	5.04	0.67666	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.095913	0.64402	D	0.000002	T	0.11707	0.0285	N	0.02120	-0.675	0.80722	D	1	B	0.06786	0.001	B	0.11329	0.006	T	0.16188	-1.0411	10	0.02654	T	1	-0.3994	14.9266	0.70884	0.0:0.9317:0.0:0.0683	.	499	Q6ZQY3	GADL1_HUMAN	N	499	ENSP00000282538:S499N	ENSP00000282538:S499N	S	-	2	0	GADL1	30744808	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.242000	0.32755	1.501000	0.48654	0.655000	0.94253	AGC		0.552	GADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253106.2	NM_207359		T	30769804	C	T	30769804	3	4	734	1	0	0	0	0	1	0	0	0	6187	797	28	2	73	2	GADL1	3	30769804	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	10848643	30769804	167252626	150	41569											
STT3B	201595	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	3	31617961	31617961	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:31617961G>A	ENST00000295770.2	+	2	597	c.388G>A	c.(388-390)Gca>Aca	p.A130T	STT3B_ENST00000453168.1_3'UTR	NM_178862.1	NP_849193.1	Q8TCJ2	STT3B_HUMAN	STT3B, subunit of the oligosaccharyltransferase complex (catalytic)	130					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						TGATGAAAGAGCATGGTATCC	0.289																																																0													104	109	107					3																	31617961		2203	4294	6497	SO:0001583	missense	201595			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.388G>A	3.37:g.31617961G>A	ENSP00000295770:p.Ala130Thr		Q96JZ4|Q96KY7	Missense_Mutation	SNP	ENST00000295770.2	37	CCDS2650.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.942467	0.73672	.	.	ENSG00000163527	ENST00000295770	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.72087	0.3417	L	0.45352	1.415	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63510	-0.6621	9	0.10377	T	0.69	-13.3357	19.7278	0.96172	0.0:0.0:1.0:0.0	.	130	Q8TCJ2	STT3B_HUMAN	T	130	.	ENSP00000295770:A130T	A	+	1	0	STT3B	31592965	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.656000	0.90262	0.591000	0.81541	GCA		0.289	STT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253166.2	NM_178862		A	31617961	G	A	31617961	3	1	734	1	0	0	0	0	1	0	0	0	15339	971	34	2	394	2	STT3B	3	31617961	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	848157	31617961	166404469	151	41570											
DCLK3	85443	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	3	36759593	36759593	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:36759593C>T	ENST00000416516.2	-	4	2151	c.1661G>A	c.(1660-1662)cGc>cAc	p.R554H	DCLK3_ENST00000498047.1_5'UTR	NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	554	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> C (in a lung squamous cell carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.			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						CTCAGGGCTGCGGAATGGGGG	0.552																																																0													153	166	162					3																	36759593		2066	4229	6295	SO:0001583	missense	85443			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.1661G>A	3.37:g.36759593C>T	ENSP00000394484:p.Arg554His			Missense_Mutation	SNP	ENST00000416516.2	37	CCDS43064.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.921101	0.92249	.	.	ENSG00000163673	ENST00000416516	T	0.66280	-0.2	5.51	5.51	0.81932	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	0.32147	N	0.006510	T	0.74076	0.3669	L	0.41573	1.285	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73688	-0.3904	10	0.52906	T	0.07	.	19.7913	0.96458	0.0:1.0:0.0:0.0	.	554	Q9C098	DCLK3_HUMAN	H	554	ENSP00000394484:R554H	ENSP00000394484:R554H	R	-	2	0	DCLK3	36734597	1.000000	0.71417	1.000000	0.80357	0.639000	0.38242	7.818000	0.86416	2.765000	0.95021	0.555000	0.69702	CGC		0.552	DCLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341727.1	XM_047355		T	36759593	C	T	36759593	3	4	734	1	0	0	0	0	1	0	0	0	4295	768	27	1	293	1	DCLK3	3	36759593	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	5141632	36759593	161262837	152	41571											
SLC22A13	9390	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	3	38316965	38316965	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:38316965C>T	ENST00000311856.4	+	5	960	c.911C>T	c.(910-912)cCg>cTg	p.P304L	SLC22A13_ENST00000450935.2_3'UTR	NM_004256.3	NP_004247.2	Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 13	304					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)		AAACTCTCCCCGGAGCTCATG	0.602																																																0													58	58	58					3																	38316965		2203	4300	6503	SO:0001583	missense	9390			AB010438	CCDS2676.1	3p22.2	2013-07-18	2013-07-18	2003-10-15	ENSG00000172940	ENSG00000172940		"Solute carriers"	8494	protein-coding gene	gene with protein product		604047	"organic cationic transporter-like 3", "solute carrier family 22 (organic anion transporter), member 13"	ORCTL3		10072596, 18411268	Standard	NM_004256		Approved	OCTL1, OCTL3, OAT10	uc003chz.3	Q9Y226	OTTHUMG00000131086	ENST00000311856.4:c.911C>T	3.37:g.38316965C>T	ENSP00000310241:p.Pro304Leu		B2RCV9|Q8IYG1	Missense_Mutation	SNP	ENST00000311856.4	37	CCDS2676.1	.	.	.	.	.	.	.	.	.	.	C	4.118	0.020056	0.08006	.	.	ENSG00000172940	ENST00000311856	T	0.74315	-0.83	4.84	2.9	0.33743	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.289868	0.39146	N	0.001457	T	0.59266	0.2181	L	0.35542	1.07	0.19775	N	0.999958	B;B	0.17268	0.017;0.021	B;B	0.15484	0.008;0.013	T	0.44436	-0.9328	10	0.25751	T	0.34	.	8.7276	0.34478	0.1484:0.7713:0.0:0.0803	.	304;304	Q9Y226-2;Q9Y226	.;S22AD_HUMAN	L	304	ENSP00000310241:P304L	ENSP00000310241:P304L	P	+	2	0	SLC22A13	38291969	0.000000	0.05858	0.002000	0.10522	0.169000	0.22640	0.837000	0.27558	1.174000	0.42811	0.655000	0.94253	CCG		0.602	SLC22A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253746.2	NM_004256		T	38316965	C	T	38316965	3	4	734	1	0	0	0	0	1	0	0	0	14450	652	23	1	929	1	SLC22A13	3	38316965	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1557372	38316965	159705465	153	41572											
ZNF621	285268	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	3	40573994	40573994	+	Missense_Mutation	SNP	C	C	T	rs144763141		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:40573994C>T	ENST00000339296.5	+	5	1185	c.733C>T	c.(733-735)Cgt>Tgt	p.R245C	ZNF621_ENST00000310898.1_Intron|ZNF621_ENST00000490457.1_Intron|ZNF621_ENST00000431278.1_Missense_Mutation_p.R134C|ZNF621_ENST00000403205.2_Missense_Mutation_p.R245C	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	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)|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)		AAAGGCTTTCCGTAGGAGTGC	0.453																																																0								C	CYS/ARG,CYS/ARG	0,4406		0,0,2203	85	90	89		733,733	3.1	1	3	dbSNP_134	89	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ZNF621	NM_001098414.1,NM_198484.3	180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	245/440,245/440	40573994	1,13005	2203	4300	6503	SO:0001583	missense	285268			AK127181	CCDS2693.1, CCDS74920.1	3p21.33	2013-01-08			ENSG00000172888	ENSG00000172888		"Zinc fingers, C2H2-type", "-"	24787	protein-coding gene	gene with protein product							Standard	XM_005265079		Approved	FLJ45246	uc003ckm.2	Q6ZSS3	OTTHUMG00000131389	ENST00000339296.5:c.733C>T	3.37:g.40573994C>T	ENSP00000340841:p.Arg245Cys		Q14DC7|Q8TE91	Missense_Mutation	SNP	ENST00000339296.5	37	CCDS2693.1	.	.	.	.	.	.	.	.	.	.	c	5.829	0.337228	0.11013	0.0	1.16E-4	ENSG00000172888	ENST00000403205;ENST00000339296;ENST00000431278	T;T;T	0.18502	2.21;2.21;2.21	3.94	3.06	0.35304	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.206892	0.24409	N	0.038765	T	0.26702	0.0653	L	0.43554	1.36	0.80722	D	1	B;D	0.76494	0.06;0.999	B;P	0.61658	0.013;0.892	T	0.01169	-1.1430	10	0.44086	T	0.13	.	9.8917	0.41294	0.0:0.8967:0.0:0.1033	.	134;245	C9JZC2;Q6ZSS3	.;ZN621_HUMAN	C	245;245;134	ENSP00000386051:R245C;ENSP00000340841:R245C;ENSP00000413236:R134C	ENSP00000340841:R245C	R	+	1	0	ZNF621	40548998	0.000000	0.05858	0.955000	0.39395	0.054000	0.15201	-1.398000	0.02509	1.251000	0.43983	-0.253000	0.11424	CGT		0.453	ZNF621-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254178.2	NM_198484		T	40573994	C	T	40573994	3	4	734	1	0	0	0	0	1	0	0	0	18050	652	23	1	747	1	ZNF621	3	40573994	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	2257029	40573994	157448436	154	41573											
CTNNB1	1499	broad.mit.edu;mdanderson.org;bcgsc.ca	37	3	41266964	41266964	+	Missense_Mutation	SNP	G	G	A	rs200890083		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:41266964G>A	ENST00000349496.5	+	5	915	c.635G>A	c.(634-636)cGt>cAt	p.R212H	CTNNB1_ENST00000405570.1_Missense_Mutation_p.R212H|CTNNB1_ENST00000396185.3_Missense_Mutation_p.R212H|CTNNB1_ENST00000453024.1_Missense_Mutation_p.R205H|CTNNB1_ENST00000396183.3_Missense_Mutation_p.R212H	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	212					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)		GAAACAGCTCGTTGTACCGCT	0.478		15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of				G|||	1	0.000199681	0.0	0.0	5008	,	,		21147	0.0		0.001	False		,,,				2504	0.0				Colon(6;3 56 14213 18255)		Dom	yes		3	3p22-p21.3	1499	"catenin (cadherin-associated protein), beta 1"		"E, M, O"	0													102	98	99					3																	41266964		2203	4300	6503	SO:0001583	missense	1499	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	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.635G>A	3.37:g.41266964G>A	ENSP00000344456:p.Arg212His		A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	CCDS2694.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	19.27	3.794849	0.70452	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01;-0.01	5.7	5.7	0.88788	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.63058	0.2479	M	0.74647	2.275	0.80722	D	1	P;P	0.36378	0.55;0.55	B;B	0.26094	0.044;0.066	T	0.69072	-0.5242	10	0.87932	D	0	-14.4568	19.8405	0.96681	0.0:0.0:1.0:0.0	.	140;212	B4DSW9;P35222	.;CTNB1_HUMAN	H	212;212;212;205;212	ENSP00000385604:R212H;ENSP00000379486:R212H;ENSP00000344456:R212H;ENSP00000411226:R205H;ENSP00000379488:R212H	ENSP00000344456:R212H	R	+	2	0	CTNNB1	41241968	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.869000	0.99810	2.692000	0.91855	0.655000	0.94253	CGT		0.478	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		A	41266964	G	A	41266964	3	1	734	1	0	0	0	0	1	0	0	0	4018	1145	40	1	649	1	CTNNB1	3	41266964	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	692970	41266964	156755466	155	41574											
ZNF197	10168	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	3	44684294	44684294	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:44684294C>T	ENST00000396058.1	+	5	1839	c.1672C>T	c.(1672-1674)Cga>Tga	p.R558*	ZNF197_ENST00000344387.4_Nonsense_Mutation_p.R558*|RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000383745.2_Intron|ZNF197_ENST00000383744.4_Intron			O14709	ZN197_HUMAN	zinc finger protein 197	558					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		TGACCATCAGCGACTCCACAG	0.428																																																0													76	82	80					3																	44684294		2203	4299	6502	SO:0001587	stop_gained	10168			AF011573	CCDS2717.1, CCDS33743.1	3p21	2013-01-09	2003-10-07		ENSG00000186448	ENSG00000186448		"Zinc fingers, C2H2-type", "-", "-", "-"	12988	protein-coding gene	gene with protein product			"zinc finger protein 166"	ZNF166		9380504, 8353497	Standard	XM_005264783		Approved	P18, D3S1363E, ZKSCAN9, ZSCAN41	uc003cnm.3	O14709	OTTHUMG00000133089	ENST00000396058.1:c.1672C>T	3.37:g.44684294C>T	ENSP00000379370:p.Arg558*		B2RAH8|Q86VG0	Nonsense_Mutation	SNP	ENST00000396058.1	37	CCDS2717.1	.	.	.	.	.	.	.	.	.	.	A	33	5.289130	0.95517	.	.	ENSG00000186448	ENST00000344387;ENST00000396058	.	.	.	3.63	2.74	0.32292	.	0.000000	0.28465	U	0.015256	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.6139	0.04899	0.1945:0.5128:0.1883:0.1044	.	.	.	.	X	558	.	ENSP00000345809:R558X	R	+	1	2	ZNF197	44659298	0.000000	0.05858	1.000000	0.80357	0.993000	0.82548	0.058000	0.14301	1.080000	0.41073	0.454000	0.30748	CGA		0.428	ZNF197-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256747.4	NM_006991		T	44684294	C	T	44684294	4	4	734	1	0	0	0	0	0	1	0	0	17764	760	27	1	1690	1	ZNF197	3	44684294	Nonsense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	3417330	44684294	153338136	156	41575											
PLXNB1	5364	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	3	48462160	48462160	+	Missense_Mutation	SNP	G	G	A	rs555355943		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:48462160G>A	ENST00000358536.4	-	10	2211	c.1942C>T	c.(1942-1944)Cgc>Tgc	p.R648C	PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000358459.4_Missense_Mutation_p.R648C|PLXNB1_ENST00000456774.1_Missense_Mutation_p.R648C|PLXNB1_ENST00000296440.6_Missense_Mutation_p.R648C	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	648					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)		CACCCCCAGCGGCTGCTCACA	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		17417	0.0		0.0	False		,,,				2504	0.001															0													47	43	44					3																	48462160		2203	4300	6503	SO:0001583	missense	5364			X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"Plexins"	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.1942C>T	3.37:g.48462160G>A	ENSP00000351338:p.Arg648Cys		A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	ENST00000358536.4	37	CCDS2765.1	.	.	.	.	.	.	.	.	.	.	G	18.37	3.610071	0.66558	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000456774	T;T;T;T	0.03580	3.88;3.9;3.88;3.9	5.24	3.35	0.38373	.	0.414294	0.24022	N	0.042266	T	0.08670	0.0215	M	0.71036	2.16	0.80722	D	1	P;P	0.52170	0.923;0.951	B;P	0.48901	0.232;0.594	T	0.02115	-1.1211	10	0.56958	D	0.05	.	10.9355	0.47243	0.0:0.2377:0.6355:0.1267	.	648;648	O43157;O43157-2	PLXB1_HUMAN;.	C	648	ENSP00000296440:R648C;ENSP00000351242:R648C;ENSP00000351338:R648C;ENSP00000414199:R648C	ENSP00000296440:R648C	R	-	1	0	PLXNB1	48437164	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.903000	0.48711	2.468000	0.83385	0.561000	0.74099	CGC		0.637	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673		A	48462160	G	A	48462160	3	1	734	1	0	0	0	0	1	0	0	0	12125	1116	39	1	4581	1	PLXNB1	3	48462160	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	3777866	48462160	149560270	157	41576											
COL7A1	1294	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	3	48626075	48626075	+	Splice_Site	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:48626075G>A	ENST00000328333.8	-	19	2694	c.2587C>T	c.(2587-2589)Ccg>Tcg	p.P863S	COL7A1_ENST00000454817.1_Splice_Site_p.P863S	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	863	Fibronectin type-III 7. {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)		CTCTGCCTACGCGTAGTGACA	0.582																																																0													68	71	70					3																	48626075		2203	4300	6503	SO:0001630	splice_region_variant	1294			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"Collagens", "Fibronectin type III domain containing"	2214	protein-coding gene	gene with protein product	"collagen VII, alpha-1 polypeptide", "LC collagen"	120120	"epidermolysis bullosa, dystrophic, dominant and recessive"	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.2587+1C>T	3.37:g.48626075G>A			Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	G	10.85	1.466665	0.26335	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	T;T	0.54866	0.55;0.55	5.38	5.38	0.77491	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.000000	0.45867	D	0.000330	T	0.52435	0.1734	L	0.54323	1.7	0.45366	D	0.998355	P	0.49862	0.929	B	0.42798	0.398	T	0.52845	-0.8521	9	.	.	.	.	18.2888	0.90122	0.0:0.0:1.0:0.0	.	863	Q02388	CO7A1_HUMAN	S	863	ENSP00000332371:P863S;ENSP00000412569:P863S	.	P	-	1	0	COL7A1	48601079	1.000000	0.71417	0.999000	0.59377	0.058000	0.15608	4.006000	0.57083	2.686000	0.91538	0.655000	0.94253	CCG		0.582	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094	Missense_Mutation	A	48626075	G	A	48626075	5	1	734	1	0	0	0	0	0	0	1	0	3706	1101	38	1	6647	1	COL7A1	3	48626075	Splice_Site	SNP	G	TCGA-KN-8428-01A-11D-2310-10	163915	48626075	149396355	158	41577											
NDUFAF3	25915	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	3	49059935	49059935	+	Silent	SNP	C	C	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:49059935C>A	ENST00000326925.6	+	2	1368	c.234C>A	c.(232-234)ccC>ccA	p.P78P	NDUFAF3_ENST00000395458.2_Silent_p.P21P|DALRD3_ENST00000440857.1_5'Flank|MIR425_ENST00000362162.1_RNA|DALRD3_ENST00000313778.5_5'Flank|NDUFAF3_ENST00000451378.2_Silent_p.P21P|NDUFAF3_ENST00000326912.4_Silent_p.P21P|DALRD3_ENST00000496568.1_5'Flank|MIR191_ENST00000384873.1_RNA	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 3	78					mitochondrial respiratory chain complex I assembly (GO:0032981)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						TGCTCGGCCCCTGCGCTCTGC	0.632																																																0													23	23	23					3																	49059935		2202	4300	6502	SO:0001819	synonymous_variant	25915				CCDS2784.1, CCDS2785.1	3p21.31	2012-10-12	2012-05-08	2009-03-18	ENSG00000178057	ENSG00000178057		"Mitochondrial respiratory chain complex assembly factors"	29918	protein-coding gene	gene with protein product		612911	"chromosome 3 open reading frame 60", "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3"	C3orf60		12653254, 9349717	Standard	NM_199069		Approved	MGC10527, DKFZP564J0123, E3-3, 2P1	uc003cvq.3	Q9BU61	OTTHUMG00000156773	ENST00000326925.6:c.234C>A	3.37:g.49059935C>A				Silent	SNP	ENST00000326925.6	37	CCDS2784.1																																																																																				0.632	NDUFAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345683.2	NM_199069		A	49059935	C	A	49059935	2	1	734	1	0	0	0	0	0	0	0	1	10278	668	24	4		4	NDUFAF3	3	49059935	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	433860	49059935	148962495	159	41578											
IMPDH2	25915	broad.mit.edu	37	3	49061970	49061970	+	IGR	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:49061970G>A	ENST00000326925.6	+	0	2012				IMPDH2_ENST00000326739.4_Missense_Mutation_p.T494M|DALRD3_ENST00000496568.1_5'Flank	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 3						mitochondrial respiratory chain complex I assembly (GO:0032981)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						GGCTGAGGACGTTCTCTTCTC	0.567																																																0													123	113	116					3																	49061970		2203	4300	6503	SO:0001628	intergenic_variant	3615				CCDS2784.1, CCDS2785.1	3p21.31	2012-10-12	2012-05-08	2009-03-18	ENSG00000178057	ENSG00000178057		"Mitochondrial respiratory chain complex assembly factors"	29918	protein-coding gene	gene with protein product		612911	"chromosome 3 open reading frame 60", "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3"	C3orf60		12653254, 9349717	Standard	NM_199069		Approved	MGC10527, DKFZP564J0123, E3-3, 2P1	uc003cvq.3	Q9BU61	OTTHUMG00000156773		3.37:g.49061970G>A				Missense_Mutation	SNP	ENST00000326925.6	37	CCDS2784.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.761076	0.89932	.	.	ENSG00000178035	ENST00000326739	D	0.82893	-1.66	5.68	5.68	0.88126	Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);	0.000000	0.85682	D	0.000000	D	0.94228	0.8147	H	0.95780	3.72	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.95373	0.8466	10	0.87932	D	0	-12.7463	19.7926	0.96466	0.0:0.0:1.0:0.0	.	494	P12268	IMDH2_HUMAN	M	494	ENSP00000321584:T494M	ENSP00000321584:T494M	T	-	2	0	IMPDH2	49036974	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.367000	0.97148	2.670000	0.90874	0.655000	0.94253	ACG		0.567	NDUFAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345683.2	NM_199069		A	49061970	G	A	49061970	1	1	734	0	1	0	0	0	0	0	0	0	7729	1145	40	1		1	IMPDH2	3	49061970	IGR	SNP	G	TCGA-KN-8428-01A-11D-2310-10	2035	49061970	148960460	160	41579											
BSN	8927	broad.mit.edu;mdanderson.org;bcgsc.ca	37	3	49694040	49694040	+	Missense_Mutation	SNP	C	C	T	rs370022838		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:49694040C>T	ENST00000296452.4	+	5	7165	c.7051C>T	c.(7051-7053)Cgg>Tgg	p.R2351W		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2351					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)		GGCCCTCAGCCGGCCAGGGTT	0.647																																																0								C	TRP/ARG	0,4384		0,0,2192	14	15	15		7051	4.6	1	3		15	1,8569		0,1,4284	no	missense	BSN	NM_003458.3	101	0,1,6476	TT,TC,CC		0.0117,0.0,0.0077	probably-damaging	2351/3927	49694040	1,12953	2192	4285	6477	SO:0001583	missense	8927			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"zinc finger protein 231", "neuronal double zinc finger protein"	604020	"bassoon (presynaptic cytomatrix protein)"	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.7051C>T	3.37:g.49694040C>T	ENSP00000296452:p.Arg2351Trp		O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	C	8.910	0.958563	0.18507	0.0	1.17E-4	ENSG00000164061	ENST00000296452	T	0.18657	2.2	5.45	4.55	0.56014	.	0.745176	0.12546	N	0.459461	T	0.31796	0.0808	N	0.19112	0.55	0.37687	D	0.923715	D	0.89917	1.0	D	0.87578	0.998	T	0.23476	-1.0187	10	0.72032	D	0.01	-20.9049	11.971	0.53063	0.1737:0.8263:0.0:0.0	.	2351	Q9UPA5	BSN_HUMAN	W	2351	ENSP00000296452:R2351W	ENSP00000296452:R2351W	R	+	1	2	BSN	49669044	0.651000	0.27340	0.995000	0.50966	0.880000	0.50808	1.645000	0.37238	1.561000	0.49584	0.655000	0.94253	CGG		0.647	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		T	49694040	C	T	49694040	3	4	734	1	0	0	0	0	1	0	0	0	1532	643	23	1	7069	1	BSN	3	49694040	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	632070	49694040	148328390	161	41580											
MST1	327	hgsc.bcm.edu;mdanderson.org	37	3	49723817	49723817	+	IGR	SNP	G	G	A	rs146923247	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:49723817G>A	ENST00000296456.5	+	0	3220				MST1_ENST00000383728.3_Silent_p.G240G|MST1_ENST00000449682.2_Silent_p.G315G|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000545762.1_3'UTR|MST1_ENST00000494828.2_5'Flank	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)		GGCAAGGTACGCCCGCAGTGG	0.652																																																0													35	33	33					3																	49723817		2202	4297	6499	SO:0001628	intergenic_variant	4485			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.49723817G>A			Q9BQ33|Q9P0Y2	Silent	SNP	ENST00000296456.5	37	CCDS2801.1																																																																																				0.652	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			A	49723817	G	A	49723817	1	1	734	0	1	0	0	0	0	0	0	0	9892	1074	38	1		1	MST1	3	49723817	IGR	SNP	G	TCGA-KN-8428-01A-11D-2310-10	29777	49723817	148298613	162	41581											
MST1R	4486	broad.mit.edu;mdanderson.org	37	3	49940431	49940431	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:49940431G>A	ENST00000296474.3	-	1	639	c.612C>T	c.(610-612)gaC>gaT	p.D204D	CTD-2330K9.2_ENST00000435478.1_RNA|MST1R_ENST00000344206.4_Silent_p.D204D|CTD-2330K9.3_ENST00000419183.1_5'Flank	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	204	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CCACGGCTGCGTCCAGTGAGG	0.622																																																0													24	26	25					3																	49940431		2202	4299	6501	SO:0001819	synonymous_variant	4486			X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"CD molecules"	7381	protein-coding gene	gene with protein product		600168	"PTK8 protein tyrosine kinase 8"	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.612C>T	3.37:g.49940431G>A			B5A944|B5A945|B5A946|B5A947	Silent	SNP	ENST00000296474.3	37	CCDS2807.1																																																																																				0.622	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1			A	49940431	G	A	49940431	2	1	734	1	0	0	0	0	0	0	0	1	9893	1136	40	1		1	MST1R	3	49940431	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	216614	49940431	148081999	163	41582											
RBM6	10180	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	3	50005642	50005642	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:50005642C>T	ENST00000266022.4	+	3	1043	c.784C>T	c.(784-786)Cga>Tga	p.R262*	RBM6_ENST00000443081.1_Nonsense_Mutation_p.R130*|RBM6_ENST00000539992.1_Intron|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000422955.1_Intron	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	262					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		AGGTAGACACCGATCTAGGAC	0.448																																																0													83	85	84					3																	50005642		2203	4300	6503	SO:0001587	stop_gained	10180			AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"RNA binding motif (RRM) containing", "G patch domain containing"	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.784C>T	3.37:g.50005642C>T	ENSP00000266022:p.Arg262*		O60549|O75524|Q86SS3	Nonsense_Mutation	SNP	ENST00000266022.4	37	CCDS2809.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.576649	0.65878	.	.	ENSG00000004534	ENST00000266022;ENST00000443081	.	.	.	6.04	5.16	0.70880	.	0.237148	0.34853	N	0.003622	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.8677	8.0479	0.30559	0.3512:0.5757:0.0:0.0731	.	.	.	.	X	262;130	.	.	R	+	1	2	RBM6	49980646	0.920000	0.31207	0.998000	0.56505	0.992000	0.81027	2.172000	0.42463	1.543000	0.49345	0.561000	0.74099	CGA		0.448	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345528.4	NM_005777		T	50005642	C	T	50005642	4	4	734	1	0	0	0	0	0	1	0	0	13150	644	23	1	790	1	RBM6	3	50005642	Nonsense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	65211	50005642	148016788	164	41583											
IFRD2	7866	mdanderson.org	37	3	50329826	50329826	+	Silent	SNP	A	A	G	rs1076872	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:50329826A>G	ENST00000429673.2	-	1	71	c.72T>C	c.(70-72)cgT>cgC	p.R24R	IFRD2_ENST00000417626.2_5'UTR|IFRD2_ENST00000436390.1_5'UTR|IFRD2_ENST00000484043.1_5'Flank|IFRD2_ENST00000336089.4_Silent_p.R126R			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	24						nucleus (GO:0005634)		p.R126R(1)		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)		GCCACACGCCACGCGCGCCAC	0.711													g|||	3866	0.771965	0.9871	0.8329	5008	,	,		12532	0.7817		0.6809	False		,,,				2504	0.5215															1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)						G		1241,85		585,71,7	6	13	11		72	-2.6	0.9	3	dbSNP_86	11	2184,926		782,620,153	no	coding-synonymous	IFRD2	NM_006764.4		1367,691,160	GG,GA,AA		29.7749,6.4103,22.7908		24/507	50329826	3425,1011	663	1555	2218	SO:0001819	synonymous_variant	7866			U09585		3p21.3	2008-07-18			ENSG00000214706	ENSG00000214706			5457	protein-coding gene	gene with protein product	"interferon-related protein"	602725				9050919	Standard	NM_006764		Approved	SKMc15, SM15, IFNRP	uc011bdp.2	Q12894	OTTHUMG00000156935	ENST00000429673.2:c.72T>C	3.37:g.50329826A>G			Q9BVB4|Q9UJ88	Silent	SNP	ENST00000429673.2	37	CCDS46831.1																																																																																				0.711	IFRD2-202	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_006764		G	50329826	A	G	50329826	2	3	734	1	0	0	0	0	0	0	0	1	7556	146	6	3		3	IFRD2	3	50329826	Silent	SNP	A	TCGA-KN-8428-01A-11D-2310-10	324184	50329826	147692604	165	41584											
DOCK3	1795	hgsc.bcm.edu;mdanderson.org	37	3	51315164	51315164	+	Silent	SNP	G	G	A	rs370843265		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:51315164G>A	ENST00000266037.9	+	26	2825	c.2802G>A	c.(2800-2802)ccG>ccA	p.P934P		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	934					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AGCGGTGCCCGCAGTGCACAG	0.552																																																0								G		0,4060		0,0,2030	35	37	36		2802	2.5	1	3		36	1,8351		0,1,4175	no	coding-synonymous	DOCK3	NM_004947.4		0,1,6205	AA,AG,GG		0.012,0.0,0.0081		934/2031	51315164	1,12411	2030	4176	6206	SO:0001819	synonymous_variant	1795			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"dedicator of cyto-kinesis 3"			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.2802G>A	3.37:g.51315164G>A			O15017	Silent	SNP	ENST00000266037.9	37	CCDS46835.1																																																																																				0.552	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		A	51315164	G	A	51315164	2	1	734	1	0	0	0	0	0	0	0	1	4690	1074	38	1		1	DOCK3	3	51315164	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	985338	51315164	146707266	166	41585											
DNAH1	25981	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	3	52420183	52420183	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:52420183C>T	ENST00000420323.2	+	55	8894	c.8633C>T	c.(8632-8634)aCg>aTg	p.T2878M		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2878	Stalk. {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)		CAGGTGGATACGGCCATCGCC	0.552																																																0													50	54	53					3																	52420183		2050	4200	6250	SO:0001583	missense	25981			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.8633C>T	3.37:g.52420183C>T	ENSP00000401514:p.Thr2878Met		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.846980	0.71603	.	.	ENSG00000114841	ENST00000420323	T	0.77358	-1.09	4.86	4.86	0.63082	.	0.000000	0.49916	D	0.000136	D	0.90854	0.7127	M	0.93062	3.375	0.50467	D	0.999872	D	0.89917	1.0	D	0.79784	0.993	D	0.92965	0.6392	10	0.72032	D	0.01	.	18.1681	0.89734	0.0:1.0:0.0:0.0	.	2878	C9JXH6	.	M	2878	ENSP00000401514:T2878M	ENSP00000401514:T2878M	T	+	2	0	DNAH1	52395223	1.000000	0.71417	0.994000	0.49952	0.934000	0.57294	7.039000	0.76544	2.518000	0.84900	0.563000	0.77884	ACG		0.552	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		T	52420183	C	T	52420183	3	4	734	1	0	0	0	0	1	0	0	0	4599	536	19	1	8847	1	DNAH1	3	52420183	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1105019	52420183	145602247	167	41586											
STAB1	23166	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	3	52552013	52552013	+	Silent	SNP	C	C	T	rs185967985		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:52552013C>T	ENST00000321725.6	+	45	4831	c.4755C>T	c.(4753-4755)gtC>gtT	p.V1585V		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1585	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)		GTGCCCGAGTCGGCCTGGTAA	0.602													C|||	1	0.000199681	0.0	0.0	5008	,	,		19871	0.0		0.001	False		,,,				2504	0.0															0													55	57	56					3																	52552013		2203	4300	6503	SO:0001819	synonymous_variant	23166			AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"MS-1 antigen", "fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1", "common lymphatic endothelial and vascular endothelial receptor-1"	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.4755C>T	3.37:g.52552013C>T			A7E297|Q8IUH0|Q8IUH1|Q93072	Silent	SNP	ENST00000321725.6	37	CCDS33768.1																																																																																				0.602	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		T	52552013	C	T	52552013	2	4	734	1	0	0	0	0	0	0	0	1	15242	871	31	1		1	STAB1	3	52552013	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	131830	52552013	145470417	168	41587											
CACNA1D	776	broad.mit.edu;ucsc.edu;mdanderson.org	37	3	53757945	53757945	+	Silent	SNP	C	C	T	rs562114124		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:53757945C>T	ENST00000350061.5	+	14	2530	c.2019C>T	c.(2017-2019)ggC>ggT	p.G673G	CACNA1D_ENST00000288139.4_Silent_p.G693G|CACNA1D_ENST00000422281.2_Silent_p.G673G	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	673					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)	AGCTGTTTGGCGGCAAGTTTA	0.453													C|||	1	0.000199681	0.0	0.0	5008	,	,		21775	0.001		0.0	False		,,,				2504	0.0															0													144	132	136					3																	53757945		2203	4300	6503	SO:0001819	synonymous_variant	776			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.2019C>T	3.37:g.53757945C>T			B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Silent	SNP	ENST00000350061.5	37	CCDS46848.1																																																																																				0.453	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		T	53757945	C	T	53757945	2	4	734	1	0	0	0	0	0	0	0	1	2543	755	27	1		1	CACNA1D	3	53757945	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1205932	53757945	144264485	169	41588											
SLMAP	7871	broad.mit.edu	37	3	57843846	57843846	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:57843846G>A	ENST00000428312.1	+	7	741	c.647G>A	c.(646-648)cGg>cAg	p.R216Q	SLMAP_ENST00000295952.3_Missense_Mutation_p.R216Q|SLMAP_ENST00000383718.3_Missense_Mutation_p.R216Q|SLMAP_ENST00000416870.1_5'UTR|SLMAP_ENST00000295951.3_Missense_Mutation_p.R216Q|SLMAP_ENST00000449503.2_Missense_Mutation_p.R216Q			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	216					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)		CTCTTATCACGGTTAGAAGTT	0.294																																																0													117	123	121					3																	57843846		2203	4297	6500	SO:0001583	missense	7871			AF100750	CCDS33774.1	3p21.2-p14.3	2008-07-18			ENSG00000163681	ENSG00000163681			16643	protein-coding gene	gene with protein product	"Sarcolemmal-associated protein"	602701				9405447, 11042152	Standard	NM_007159		Approved	SLAP, KIAA1601	uc003djd.1	Q14BN4	OTTHUMG00000133764	ENST00000428312.1:c.647G>A	3.37:g.57843846G>A	ENSP00000398661:p.Arg216Gln		Q14C95|Q6AI54|Q6UXC9|Q6ZVQ8|Q8NCW9|Q9H297|Q9HCH1|Q9Y681	Missense_Mutation	SNP	ENST00000428312.1	37		.	.	.	.	.	.	.	.	.	.	G	36	5.602794	0.96614	.	.	ENSG00000163681	ENST00000295951;ENST00000295952;ENST00000383718;ENST00000428312;ENST00000449503	T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.73814	0.3635	M	0.70595	2.14	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.983;0.997;0.997;0.991	T	0.70299	-0.4910	10	0.44086	T	0.13	-8.5479	20.6721	0.99693	0.0:0.0:1.0:0.0	.	216;216;216;216	Q14BN4-2;Q14BN4;Q14BN4-3;Q14BN4-6	.;SLMAP_HUMAN;.;.	Q	216	ENSP00000295951:R216Q;ENSP00000295952:R216Q;ENSP00000373224:R216Q;ENSP00000398661:R216Q;ENSP00000412945:R216Q	ENSP00000295951:R216Q	R	+	2	0	SLMAP	57818886	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.781000	0.91805	2.894000	0.99253	0.591000	0.81541	CGG		0.294	SLMAP-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351584.1	NM_007159		A	57843846	G	A	57843846	3	1	734	1	0	0	0	0	1	0	0	0	14755	1116	39	1	673	1	SLMAP	3	57843846	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	4085901	57843846	140178584	170	41589											
ATXN7	6314	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	3	63981293	63981293	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:63981293G>A	ENST00000295900.6	+	12	2345	c.1795G>A	c.(1795-1797)Gtc>Atc	p.V599I	ATXN7_ENST00000487717.1_Missense_Mutation_p.V599I|ATXN7_ENST00000398590.3_Missense_Mutation_p.V599I|ATXN7_ENST00000484332.1_Missense_Mutation_p.V454I|ATXN7_ENST00000538065.1_Missense_Mutation_p.V599I	NM_000333.3	NP_000324.1	O15265	ATX7_HUMAN	ataxin 7	599					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)		AGCAGCCACCGTCTCTACATC	0.537																																																0													125	130	128					3																	63981293		2200	4299	6499	SO:0001583	missense	6314			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.1795G>A	3.37:g.63981293G>A	ENSP00000295900:p.Val599Ile		B4E207|E9PHP9|O75328|O75329|Q9Y6P8	Missense_Mutation	SNP	ENST00000295900.6	37	CCDS43102.1	.	.	.	.	.	.	.	.	.	.	G	1.445	-0.566474	0.03910	.	.	ENSG00000163635	ENST00000398590;ENST00000295900;ENST00000487717;ENST00000538065;ENST00000484332	T;T;T;T;T	0.14640	2.5;2.51;2.51;2.5;2.49	5.33	2.56	0.30785	.	0.430246	0.24381	N	0.039018	T	0.06142	0.0159	N	0.22421	0.69	0.09310	N	1	B;B;P	0.39737	0.396;0.017;0.685	B;B;B	0.28385	0.038;0.003;0.089	T	0.35798	-0.9774	10	0.07325	T	0.83	-0.3532	10.9505	0.47325	0.2054:0.0:0.7946:0.0	.	454;599;599	E9PHP9;O15265-2;O15265	.;.;ATX7_HUMAN	I	599;599;599;599;454	ENSP00000381590:V599I;ENSP00000295900:V599I;ENSP00000420234:V599I;ENSP00000439585:V599I;ENSP00000428277:V454I	ENSP00000295900:V599I	V	+	1	0	ATXN7	63956333	0.054000	0.20591	0.008000	0.14137	0.002000	0.02628	0.283000	0.18846	0.253000	0.21552	-0.156000	0.13503	GTC		0.537	ATXN7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352070.1	NM_000333		A	63981293	G	A	63981293	3	1	734	1	0	0	0	0	1	0	0	0	1215	1145	40	1	1901	1	ATXN7	3	63981293	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	6137447	63981293	134041137	171	41590											
LMOD3	56203	broad.mit.edu;mdanderson.org;bcgsc.ca	37	3	69168210	69168210	+	Missense_Mutation	SNP	C	C	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:69168210C>A	ENST00000420581.2	-	2	1475	c.1296G>T	c.(1294-1296)gaG>gaT	p.E432D	LMOD3_ENST00000475434.1_Missense_Mutation_p.E432D|LMOD3_ENST00000489031.1_Missense_Mutation_p.E432D	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	432						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)		CTCCCAACAGCTCCCACATCC	0.542																																																0													73	77	76					3																	69168210		1947	4126	6073	SO:0001583	missense	56203			AK096900	CCDS46862.1	3p14.1	2003-03-07			ENSG00000163380	ENSG00000163380			6649	protein-coding gene	gene with protein product							Standard	NM_198271		Approved		uc003dns.2	Q0VAK6	OTTHUMG00000158774	ENST00000420581.2:c.1296G>T	3.37:g.69168210C>A	ENSP00000414670:p.Glu432Asp		B4DT85|Q0JTT2|Q5JPG6|Q8IUK4|Q96LS4	Missense_Mutation	SNP	ENST00000420581.2	37	CCDS46862.1	.	.	.	.	.	.	.	.	.	.	C	13.72	2.320980	0.41096	.	.	ENSG00000163380	ENST00000420581;ENST00000489031;ENST00000475434	T;T;T	0.13778	2.56;2.56;2.56	5.84	5.84	0.93424	.	0.090855	0.85682	D	0.000000	T	0.15478	0.0373	M	0.67953	2.075	0.48135	D	0.999595	P	0.45348	0.856	B	0.38842	0.283	T	0.03922	-1.0992	10	0.20046	T	0.44	-33.5411	12.8236	0.57707	0.0:0.8839:0.0:0.1161	.	432	Q0VAK6	LMOD3_HUMAN	D	432	ENSP00000414670:E432D;ENSP00000417210:E432D;ENSP00000418645:E432D	ENSP00000414670:E432D	E	-	3	2	LMOD3	69250900	1.000000	0.71417	0.984000	0.44739	0.879000	0.50718	1.401000	0.34589	2.779000	0.95612	0.591000	0.81541	GAG		0.542	LMOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352138.1	XM_067529		A	69168210	C	A	69168210	3	1	734	1	0	0	0	0	1	0	0	0	8860	796	28	4	394	4	LMOD3	3	69168210	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	5186917	69168210	128854220	172	41591											
GPR27	2850	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	3	71804265	71804265	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:71804265C>T	ENST00000304411.2	+	1	1065	c.1065C>T	c.(1063-1065)tgC>tgT	p.C355C	EIF4E3_ENST00000448225.1_5'Flank|EIF4E3_ENST00000421769.2_5'Flank|EIF4E3_ENST00000295612.3_5'Flank	NM_018971.1	NP_061844.1	Q9NS67	GPR27_HUMAN	G protein-coupled receptor 27	355					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			kidney(1)|lung(2)|ovary(1)|prostate(1)	5		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)		AGTTCCCCTGCTGCCAGAGCC	0.647																																																0													14	14	14					3																	71804265		2160	4226	6386	SO:0001819	synonymous_variant	2850			AB040799	CCDS2915.1	3p21-p14	2012-08-21			ENSG00000170837	ENSG00000170837		"GPCR / Class A : Orphans"	4482	protein-coding gene	gene with protein product		605187				10833454	Standard	NM_018971		Approved	SREB1	uc011bge.2	Q9NS67	OTTHUMG00000158810	ENST00000304411.2:c.1065C>T	3.37:g.71804265C>T				Silent	SNP	ENST00000304411.2	37	CCDS2915.1																																																																																				0.647	GPR27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352303.1	NM_018971		T	71804265	C	T	71804265	2	4	734	1	0	0	0	0	0	0	0	1	6687	805	28	2		2	GPR27	3	71804265	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	2636055	71804265	126218165	173	41592											
PPP4R2	151987	broad.mit.edu;mdanderson.org;bcgsc.ca	37	3	73096446	73096446	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:73096446G>A	ENST00000356692.5	+	3	479	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K	PPP4R2_ENST00000394284.3_Intron|PPP4R2_ENST00000295862.9_Missense_Mutation_p.E20K			Q9NY27	PP4R2_HUMAN	protein phosphatase 4, regulatory subunit 2	76					cellular protein modification process (GO:0006464)|hematopoietic progenitor cell differentiation (GO:0002244)|mRNA processing (GO:0006397)|regulation of catalytic activity (GO:0050790)|regulation of double-strand break repair via homologous recombination (GO:0010569)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)	protein binding, bridging (GO:0030674)|protein phosphatase type 4 regulator activity (GO:0030362)			breast(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)|urinary_tract(2)	12		Prostate(10;0.0187)|Lung SC(41;0.236)		Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031)		CCCTAATGTCGAATATATTCC	0.348																																																0													51	56	54					3																	73096446		2203	4299	6502	SO:0001583	missense	151987			AJ271448	CCDS2917.1	3q29	2010-06-18			ENSG00000163605	ENSG00000163605		"Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"	18296	protein-coding gene	gene with protein product		613822				10769191	Standard	NM_174907		Approved		uc003dph.1	Q9NY27	OTTHUMG00000158816	ENST00000356692.5:c.226G>A	3.37:g.73096446G>A	ENSP00000349124:p.Glu76Lys		A8K1I6|Q2TAJ9|Q498B8|Q8WXX6	Missense_Mutation	SNP	ENST00000356692.5	37	CCDS2917.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.255741	0.80135	.	.	ENSG00000163605	ENST00000356692;ENST00000488810;ENST00000295862;ENST00000476505	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.69975	0.3171	M	0.71296	2.17	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.72308	-0.4332	10	0.72032	D	0.01	.	19.3579	0.94422	0.0:0.0:1.0:0.0	.	76	Q9NY27	PP4R2_HUMAN	K	76;76;20;38	ENSP00000349124:E76K;ENSP00000418750:E76K;ENSP00000295862:E20K;ENSP00000420098:E38K	ENSP00000295862:E20K	E	+	1	0	PPP4R2	73179136	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.700000	0.98707	2.576000	0.86940	0.557000	0.71058	GAA		0.348	PPP4R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352321.1	NM_174907		A	73096446	G	A	73096446	3	1	734	1	0	0	0	0	1	0	0	0	12409	1059	37	1	236	1	PPP4R2	3	73096446	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1292181	73096446	124925984	174	41593											
ROBO1	6091	hgsc.bcm.edu;ucsc.edu	37	3	78666912	78666912	+	Silent	SNP	G	G	A	rs536505138		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:78666912G>A	ENST00000464233.1	-	27	4268	c.4155C>T	c.(4153-4155)agC>agT	p.S1385S	ROBO1_ENST00000436010.2_Silent_p.S1346S|ROBO1_ENST00000495273.1_Silent_p.S1340S|ROBO1_ENST00000467549.1_Silent_p.S1285S	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1385					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.S1362S(1)|p.S1340S(1)|p.S1385S(1)|p.S1389S(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)		TGGAGCGTCCGCTGGAAATGT	0.577																																																4	Substitution - coding silent(4)	lung(4)											53	60	57					3																	78666912		1967	4136	6103	SO:0001819	synonymous_variant	6091			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10249	protein-coding gene	gene with protein product		602430	"roundabout (axon guidance receptor, Drosophila) homolog 1"			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.4155C>T	3.37:g.78666912G>A			B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Silent	SNP	ENST00000464233.1	37	CCDS54611.1																																																																																				0.577	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		A	78666912	G	A	78666912	2	1	734	1	0	0	0	0	0	0	0	1	13519	1078	38	1		1	ROBO1	3	78666912	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	5570466	78666912	119355518	175	41594											
HTR1F	3355	broad.mit.edu;bcgsc.ca	37	3	88040986	88040986	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:88040986C>T	ENST00000319595.4	+	1	1141	c.1087C>T	c.(1087-1089)Cga>Tga	p.R363*		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	363					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)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Ketamine(DB01221)|Methysergide(DB00247)|Mianserin(DB06148)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	AAAGCTTGTGCGATGTCGATG	0.338																																																0													44	47	46					3																	88040986		2200	4299	6499	SO:0001587	stop_gained	3355			L05597	CCDS2920.1	3p12	2012-08-08	2012-02-03		ENSG00000179097	ENSG00000179097		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5292	protein-coding gene	gene with protein product		182134	"5-hydroxytryptamine (serotonin) receptor 1F"			8384716, 8380639	Standard	NM_000866		Approved	HTR1EL, 5-HT1F	uc003dqr.2	P30939	OTTHUMG00000159008	ENST00000319595.4:c.1087C>T	3.37:g.88040986C>T	ENSP00000322924:p.Arg363*			Nonsense_Mutation	SNP	ENST00000319595.4	37	CCDS2920.1	.	.	.	.	.	.	.	.	.	.	C	32	5.115192	0.94339	.	.	ENSG00000179097	ENST00000319595	.	.	.	5.54	4.59	0.56863	.	0.271359	0.32518	N	0.005996	.	.	.	.	.	.	0.31805	N	0.627955	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	12.5546	0.56246	0.1989:0.801:0.0:0.0	.	.	.	.	X	363	.	ENSP00000322924:R363X	R	+	1	2	HTR1F	88123676	0.995000	0.38212	1.000000	0.80357	0.972000	0.66771	2.287000	0.43505	2.607000	0.88179	0.557000	0.71058	CGA		0.338	HTR1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352890.1	NM_000866		T	88040986	C	T	88040986	4	4	734	1	0	0	0	0	0	1	0	0	7442	760	27	1	1089	1	HTR1F	3	88040986	Nonsense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	9374074	88040986	109981444	176	41595											
CGGBP1	8545	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	3	88105046	88105046	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:88105046G>A	ENST00000398392.2	-	1	1413	c.81C>T	c.(79-81)gtC>gtT	p.V27V	CGGBP1_ENST00000309534.6_Silent_p.V27V|CGGBP1_ENST00000482016.1_Silent_p.V27V|CGGBP1_ENST00000462901.1_Silent_p.V27V|CGGBP1_ENST00000474441.1_5'Flank			Q9UFW8	CGBP1_HUMAN	CGG triplet repeat binding protein 1	27					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|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)			kidney(1)|large_intestine(2)|lung(2)	5		Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00359)|Lung(72;0.00677)		CAAACTCAGTGACTCGATCCA	0.453																																																0													103	103	103					3																	88105046		1990	4178	6168	SO:0001819	synonymous_variant	8545			AJ000258	CCDS43111.1	3p12-p11.1	2008-07-18			ENSG00000163320	ENSG00000163320			1888	protein-coding gene	gene with protein product	"p20-CGG binding protein"	603363				9201980, 14667814	Standard	NM_001195308		Approved	p20-CGGBP, CGGBP	uc003dqt.3	Q9UFW8	OTTHUMG00000159009	ENST00000398392.2:c.81C>T	3.37:g.88105046G>A			D3DU38|O15183	Silent	SNP	ENST00000398392.2	37	CCDS43111.1																																																																																				0.453	CGGBP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352955.1	NM_001008390		A	88105046	G	A	88105046	2	1	734	1	0	0	0	0	0	0	0	1	3304	1277	45	2		2	CGGBP1	3	88105046	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	64060	88105046	109917384	177	41596											
EPHA3	2042	broad.mit.edu;bcgsc.ca	37	3	89498501	89498501	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:89498501T>C	ENST00000336596.2	+	14	2698	c.2473T>C	c.(2473-2475)Tac>Cac	p.Y825H	EPHA3_ENST00000494014.1_Missense_Mutation_p.Y825H	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	825	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)		AGAGAGACCATACTGGGAGAT	0.438										TSP Lung(6;0.00050)																																						0													250	228	235					3																	89498501		2203	4300	6503	SO:0001583	missense	2042			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.2473T>C	3.37:g.89498501T>C	ENSP00000337451:p.Tyr825His		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.463042	0.84425	.	.	ENSG00000044524	ENST00000336596;ENST00000494014	T;T	0.64438	-0.1;-0.1	5.34	5.34	0.76211	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	0.82604	0.5073	M	0.90369	3.11	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86236	0.1640	9	.	.	.	.	15.3454	0.74334	0.0:0.0:0.0:1.0	.	825	P29320	EPHA3_HUMAN	H	825	ENSP00000337451:Y825H;ENSP00000419190:Y825H	.	Y	+	1	0	EPHA3	89581191	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.993000	0.88291	2.030000	0.59900	0.533000	0.62120	TAC		0.438	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		C	89498501	T	C	89498501	3	2	734	1	0	0	0	0	1	0	0	0	5170	1406	49	3	2553	3	EPHA3	3	89498501	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	1393455	89498501	108523929	178	41597											
CRYBG3	131544	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	3	97607247	97607247	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:97607247G>A	ENST00000182096.4	+	6	1572	c.1508G>A	c.(1507-1509)gGg>gAg	p.G503E		NM_153605.3	NP_705833.3	Q68DQ2	CRBG3_HUMAN	beta-gamma crystallin domain containing 3	2451							carbohydrate binding (GO:0030246)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						GAAGACCATGGGCTCTTTGAG	0.343																																																0													64	59	60					3																	97607247		1818	4070	5888	SO:0001583	missense	131544					3q11.2	2008-09-30			ENSG00000080200	ENSG00000080200			34427	protein-coding gene	gene with protein product							Standard	NM_153605		Approved	DKFZp667G2110	uc021xbn.2	Q68DQ2	OTTHUMG00000159187	ENST00000182096.4:c.1508G>A	3.37:g.97607247G>A	ENSP00000182096:p.Gly503Glu		B4DLE8|F6VHI2|Q4G0V8|Q7Z4R9|Q86VD0|Q8N262|Q8N7F1|Q8NDQ8	Missense_Mutation	SNP	ENST00000182096.4	37		.	.	.	.	.	.	.	.	.	.	G	11.15	1.555254	0.27739	.	.	ENSG00000080200	ENST00000182096	T	0.74421	-0.84	5.54	3.74	0.42951	Beta/gamma crystallin (2);Gamma-crystallin-related (1);	0.404354	0.23782	N	0.044602	T	0.51058	0.1652	N	0.10874	0.06	0.54753	D	0.999988	B	0.19331	0.035	B	0.20767	0.031	T	0.42849	-0.9427	10	0.30854	T	0.27	.	5.8824	0.18862	0.1634:0.0:0.6808:0.1558	.	503	Q68DQ2	CRBG3_HUMAN	E	503	ENSP00000182096:G503E	ENSP00000182096:G503E	G	+	2	0	CRYBG3	99089937	0.487000	0.25988	0.998000	0.56505	0.987000	0.75469	1.347000	0.33975	1.345000	0.45676	0.655000	0.94253	GGG		0.343	CRYBG3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353751.1	NM_153605		A	97607247	G	A	97607247	3	1	734	1	0	0	0	0	1	0	0	0	3915	1232	43	2	1530	2	CRYBG3	3	97607247	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	8108746	97607247	100415183	179	41598											
PARP14	54625	broad.mit.edu;ucsc.edu;mdanderson.org	37	3	122420029	122420029	+	Silent	SNP	C	C	T	rs375197249		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:122420029C>T	ENST00000474629.2	+	6	2894	c.2628C>T	c.(2626-2628)caC>caT	p.H876H		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	876	Macro 1. {ECO:0000255|PROSITE- ProRule:PRU00490}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		CCTACCACCACGTGATCCATG	0.582																																																0								C		1,4009		0,1,2004	29	30	30		2628	-12.1	0	3		30	0,8314		0,0,4157	no	coding-synonymous	PARP14	NM_017554.2		0,1,6161	TT,TC,CC		0.0,0.0249,0.0081		876/1802	122420029	1,12323	2005	4157	6162	SO:0001819	synonymous_variant	54625			AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"Poly (ADP-ribose) polymerases"	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.2628C>T	3.37:g.122420029C>T			B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Silent	SNP	ENST00000474629.2	37	CCDS46894.1																																																																																				0.582	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554		T	122420029	C	T	122420029	2	4	734	1	0	0	0	0	0	0	0	1	11460	535	19	1		1	PARP14	3	122420029	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	24812782	122420029	75602401	180	41599											
CCDC14	64770	broad.mit.edu	37	3	123675252	123675252	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:123675252G>A	ENST00000488653.2	-	3	343	c.253C>T	c.(253-255)Cgt>Tgt	p.R85C	CCDC14_ENST00000433542.2_Missense_Mutation_p.R85C|CCDC14_ENST00000485727.1_De_novo_Start_OutOfFrame|CCDC14_ENST00000483247.1_Intron|CCDC14_ENST00000489746.1_De_novo_Start_OutOfFrame			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	85					substantia nigra development (GO:0021762)	centrosome (GO:0005813)				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		GCATTAAAACGTGGTATTTTT	0.284																																																0													65	62	63					3																	123675252		692	1585	2277	SO:0001583	missense	64770			AL122079	CCDS3025.2	3q21.1	2014-03-20			ENSG00000175455	ENSG00000175455			25766	protein-coding gene	gene with protein product						12477932	Standard	NM_022757		Approved	FLJ12892, DKFZp434L1050	uc010hrt.3	Q49A88	OTTHUMG00000153005	ENST00000488653.2:c.253C>T	3.37:g.123675252G>A	ENSP00000420180:p.Arg85Cys		B7Z2T2|B8ZZ41|B8ZZ58|D3DN98|Q7Z3N3|Q86T30|Q8IWF8|Q8WUJ8|Q96K47|Q9H9A3|Q9UFH0	Missense_Mutation	SNP	ENST00000488653.2	37		.	.	.	.	.	.	.	.	.	.	G	3.595	-0.082774	0.07141	.	.	ENSG00000175455	ENST00000488653;ENST00000433542;ENST00000409697	T;T;T	0.50277	0.77;0.75;0.77	5.43	4.55	0.56014	.	.	.	.	.	T	0.32763	0.0840	N	0.21448	0.665	0.24462	N	0.99443	B;B	0.28082	0.2;0.2	B;B	0.21917	0.037;0.037	T	0.17715	-1.0360	9	0.44086	T	0.13	.	9.8274	0.40921	0.0914:0.0:0.9086:0.0	.	85;85	Q49A88;Q49A88-6	CCD14_HUMAN;.	C	85;85;66	ENSP00000420180:R85C;ENSP00000395706:R85C;ENSP00000386866:R66C	ENSP00000386866:R66C	R	-	1	0	CCDC14	125157942	0.953000	0.32496	0.096000	0.21009	0.182000	0.23217	3.213000	0.51153	1.527000	0.49086	0.655000	0.94253	CGT		0.284	CCDC14-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_022757		A	123675252	G	A	123675252	3	1	734	1	0	0	0	0	1	0	0	0	2775	1145	40	1	2525	1	CCDC14	3	123675252	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1255223	123675252	74347178	181	41600											
ROPN1	54763	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	3	123689003	123689003	+	Missense_Mutation	SNP	G	G	A	rs140868038		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:123689003G>A	ENST00000184183.4	-	6	798	c.458C>T	c.(457-459)tCg>tTg	p.S153L	ROPN1_ENST00000405845.3_Missense_Mutation_p.S153L	NM_017578.2	NP_060048.2	Q9HAT0	ROP1A_HUMAN	rhophilin associated tail protein 1	153						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.S153L(1)		lung(2)|ovary(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.148)		GATCCGGGGCGACCCACCATT	0.433																																																1	Substitution - Missense(1)	skin(1)											144	128	133					3																	123689003		2203	4300	6503	SO:0001583	missense	54763			AF231410	CCDS3026.1	3q21.1	2011-01-20	2011-01-20			ENSG00000065371			17692	protein-coding gene	gene with protein product	"cancer/testis antigen 91"	611757	"ropporin, rhophilin associated protein 1"			10591629	Standard	NM_017578		Approved	ODF6, ropporin, ROPN1A, CT91	uc003eha.3	Q9HAT0		ENST00000184183.4:c.458C>T	3.37:g.123689003G>A	ENSP00000184183:p.Ser153Leu		D3DN99|Q9UF38	Missense_Mutation	SNP	ENST00000184183.4	37	CCDS3026.1	.	.	.	.	.	.	.	.	.	.	G	7.115	0.576882	0.13686	.	.	ENSG00000065371	ENST00000184183;ENST00000405845	T;T	0.25749	1.78;1.78	4.84	3.06	0.35304	.	0.263021	0.28515	N	0.015079	T	0.18800	0.0451	L	0.29908	0.895	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.03641	-1.1017	10	0.44086	T	0.13	0.0093	11.6213	0.51119	0.0981:0.0:0.9019:0.0	.	153	Q9HAT0	ROP1A_HUMAN	L	153	ENSP00000184183:S153L;ENSP00000385919:S153L	ENSP00000184183:S153L	S	-	2	0	ROPN1	125171693	1.000000	0.71417	0.463000	0.27130	0.000000	0.00434	2.704000	0.47118	0.600000	0.29862	-0.921000	0.02739	TCG		0.433	ROPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356188.2	NM_017578		A	123689003	G	A	123689003	3	1	734	1	0	0	0	0	1	0	0	0	13529	1059	37	1	188	1	ROPN1	3	123689003	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	13751	123689003	74333427	182	41601											
KALRN	8997	broad.mit.edu;bcgsc.ca	37	3	123946899	123946899	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:123946899G>T	ENST00000240874.3	+	2	287	c.130G>T	c.(130-132)Gcc>Tcc	p.A44S	KALRN_ENST00000460856.1_Missense_Mutation_p.A44S|KALRN_ENST00000360013.3_Missense_Mutation_p.A44S	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	44	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				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						GGAAAAGGTGGCCTTCGTGTC	0.448																																																0													258	247	250					3																	123946899		2203	4300	6503	SO:0001583	missense	8997			U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	4814	protein-coding gene	gene with protein product	"serine/threonine kinase with Dbl and pleckstrin homology domains"	604605	"huntingtin-associated protein interacting protein (duo)"	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.130G>T	3.37:g.123946899G>T	ENSP00000240874:p.Ala44Ser		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	CCDS3027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	30|30	5.057071|5.057071	0.93846|0.93846	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013|ENST00000448253;ENST00000354186	D;D;D|.	0.84298|.	-1.83;-1.83;-1.83|.	4.79|4.79	4.79|4.79	0.61399|0.61399	Cellular retinaldehyde-binding/triple function, C-terminal (4);|.	0.000000|.	0.64402|.	D|.	0.000001|.	D|D	0.82416|0.82416	0.5032|0.5032	M|M	0.85710|0.85710	2.77|2.77	0.80722|0.80722	D|D	1|1	P;D;P|.	0.69078|.	0.946;0.997;0.933|.	P;D;P|.	0.80764|.	0.719;0.994;0.597|.	D|D	0.84731|0.84731	0.0745|0.0745	10|5	0.87932|.	D|.	0|.	.|.	18.0511|18.0511	0.89349|0.89349	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	44;44;44|.	C9IZQ6;O60229;O60229-2|.	.;KALRN_HUMAN;.|.	S|C	44|71;21	ENSP00000418611:A44S;ENSP00000240874:A44S;ENSP00000353109:A44S|.	ENSP00000240874:A44S|.	A|W	+|+	1|3	0|0	KALRN|KALRN	125429589|125429589	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.262000|8.262000	0.89862|0.89862	2.485000|2.485000	0.83878|0.83878	0.650000|0.650000	0.86243|0.86243	GCC|TGG		0.448	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		T	123946899	G	T	123946899	3	4	734	1	0	0	0	0	1	0	0	0	7977	1203	42	4	136	4	KALRN	3	123946899	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	257896	123946899	74075531	183	41602											
ITGB5	3693	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	3	124515406	124515406	+	Missense_Mutation	SNP	C	C	T	rs576577571		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:124515406C>T	ENST00000296181.4	-	10	1818	c.1522G>A	c.(1522-1524)Gtg>Atg	p.V508M		NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	508	Cysteine-rich tandem repeats.				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-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|epithelial cell-cell adhesion (GO:0090136)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alphav-beta5 complex (GO:0034684)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		TTCTGGTACACGCTCTGGTTC	0.657													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17297	0.0		0.0	False		,,,				2504	0.0															0													48	47	47					3																	124515406		2203	4300	6503	SO:0001583	missense	3693			J05633	CCDS3030.1	3q21.2	2010-03-23			ENSG00000082781	ENSG00000082781		"Integrins"	6160	protein-coding gene	gene with protein product		147561				2211615	Standard	NM_002213		Approved		uc003eho.3	P18084	OTTHUMG00000159432	ENST00000296181.4:c.1522G>A	3.37:g.124515406C>T	ENSP00000296181:p.Val508Met		B0LPF8|B2RD70	Missense_Mutation	SNP	ENST00000296181.4	37	CCDS3030.1	.	.	.	.	.	.	.	.	.	.	C	10.37	1.330459	0.24167	.	.	ENSG00000082781	ENST00000296181	D	0.90732	-2.72	5.26	3.38	0.38709	.	1.165470	0.05915	N	0.632346	T	0.81927	0.4926	N	0.19112	0.55	0.09310	N	1	B	0.19073	0.033	B	0.10450	0.005	T	0.69285	-0.5185	10	0.46703	T	0.11	.	1.548	0.02569	0.2704:0.3406:0.2537:0.1353	.	508	P18084	ITB5_HUMAN	M	508	ENSP00000296181:V508M	ENSP00000296181:V508M	V	-	1	0	ITGB5	125998096	0.000000	0.05858	0.015000	0.15790	0.824000	0.46624	-0.244000	0.08903	1.426000	0.47256	0.563000	0.77884	GTG		0.657	ITGB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355286.3	NM_002213		T	124515406	C	T	124515406	3	4	734	1	0	0	0	0	1	0	0	0	7900	536	19	1	901	1	ITGB5	3	124515406	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	568507	124515406	73507024	184	41603											
PLXNA1	5361	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	3	126723819	126723819	+	Missense_Mutation	SNP	C	C	T	rs117043507	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:126723819C>T	ENST00000393409.2	+	5	1711	c.1711C>T	c.(1711-1713)Cgc>Tgc	p.R571C	PLXNA1_ENST00000251772.4_Missense_Mutation_p.R548C	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	571					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)		TGTGCAGCCCCGCAATGTGTC	0.657													C|||	2	0.000399361	0.0	0.0	5008	,	,		17680	0.001		0.001	False		,,,				2504	0.0															0													47	44	45					3																	126723819		2203	4300	6503	SO:0001583	missense	5361			X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"Plexins"	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.1711C>T	3.37:g.126723819C>T	ENSP00000377061:p.Arg571Cys			Missense_Mutation	SNP	ENST00000393409.2	37	CCDS33847.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	6.096	0.386016	0.11524	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.10005	2.92;2.92	3.4	2.43	0.29744	.	0.347098	0.20648	N	0.088262	T	0.09555	0.0235	L	0.44542	1.39	0.20403	N	0.9999	B	0.12013	0.005	B	0.09377	0.004	T	0.18272	-1.0342	10	0.72032	D	0.01	.	8.5712	0.33569	0.4609:0.5391:0.0:0.0	.	571	Q9UIW2	PLXA1_HUMAN	C	571;548	ENSP00000377061:R571C;ENSP00000251772:R548C	ENSP00000251772:R548C	R	+	1	0	PLXNA1	128206509	0.377000	0.25106	0.416000	0.26546	0.046000	0.14306	2.447000	0.44917	1.927000	0.55829	0.313000	0.20887	CGC		0.657	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		T	126723819	C	T	126723819	3	4	734	1	0	0	0	0	1	0	0	0	12121	652	23	1	1729	1	PLXNA1	3	126723819	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	2208413	126723819	71298611	185	41604											
MCM2	4171	broad.mit.edu;bcgsc.ca	37	3	127339608	127339608	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:127339608C>T	ENST00000265056.7	+	14	2577	c.2333C>T	c.(2332-2334)gCg>gTg	p.A778V	MCM2_ENST00000468414.1_3'UTR	NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	778					cell cycle (GO:0007049)|cellular response to interleukin-4 (GO:0071353)|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)|nucleosome assembly (GO:0006334)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|MCM complex (GO:0042555)|microtubule cytoskeleton (GO:0015630)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA replication origin binding (GO:0003688)|metal ion binding (GO:0046872)			ovary(3)|skin(2)|stomach(1)	6						GAGGCCCACGCGCGCATCCAT	0.582																																																0													119	110	113					3																	127339608		2203	4300	6503	SO:0001583	missense	4171			X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111			6944	protein-coding gene	gene with protein product	"mitotin"	116945	"minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin)", "MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)"	CCNL1, CDCL1		1710453, 8258304	Standard	NM_004526		Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.2333C>T	3.37:g.127339608C>T	ENSP00000265056:p.Ala778Val		Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Missense_Mutation	SNP	ENST00000265056.7	37	CCDS3043.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.49|18.49	3.636410|3.636410	0.67130|0.67130	.|.	.|.	ENSG00000073111|ENSG00000073111	ENST00000265056;ENST00000539922;ENST00000543142|ENST00000491422	T|.	0.21031|.	2.03|.	5.7|5.7	4.82|4.82	0.62117|0.62117	.|.	0.047367|.	0.85682|.	D|.	0.000000|.	D|D	0.91157|0.91157	0.7215|0.7215	H|H	0.99143|0.99143	4.445|4.445	0.80722|0.80722	D|D	1|1	B;B;P|.	0.50443|.	0.214;0.287;0.935|.	B;B;P|.	0.48921|.	0.053;0.172;0.595|.	D|D	0.95135|0.95135	0.8258|0.8258	10|5	0.87932|.	D|.	0|.	-29.4073|-29.4073	16.8658|16.8658	0.86029|0.86029	0.0:0.8717:0.1283:0.0|0.0:0.8717:0.1283:0.0	.|.	828;648;778|.	F5H1E9;B4DSV5;P49736|.	.;.;MCM2_HUMAN|.	V|C	778;682;828|710	ENSP00000265056:A778V|.	ENSP00000265056:A778V|.	A|R	+|+	2|1	0|0	MCM2|MCM2	128822298|128822298	1.000000|1.000000	0.71417|0.71417	0.823000|0.823000	0.32752|0.32752	0.005000|0.005000	0.04900|0.04900	7.344000|7.344000	0.79328|0.79328	1.408000|1.408000	0.46895|0.46895	-0.171000|-0.171000	0.13296|0.13296	GCG|CGC		0.582	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1			T	127339608	C	T	127339608	3	4	734	1	0	0	0	0	1	0	0	0	9388	768	27	1	2387	1	MCM2	3	127339608	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	615789	127339608	70682822	186	41605											
IFT122	55764	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	3	129233374	129233374	+	Missense_Mutation	SNP	G	G	A	rs149245630		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:129233374G>A	ENST00000348417.2	+	25	3207	c.3130G>A	c.(3130-3132)Gcc>Acc	p.A1044T	IFT122_ENST00000507564.1_Missense_Mutation_p.A1037T|IFT122_ENST00000440957.2_Missense_Mutation_p.A835T|IFT122_ENST00000347300.2_Missense_Mutation_p.A985T|IFT122_ENST00000504021.1_Missense_Mutation_p.A921T|IFT122_ENST00000349441.2_Missense_Mutation_p.A934T|IFT122_ENST00000431818.2_Missense_Mutation_p.A894T|IFT122_ENST00000296266.3_Missense_Mutation_p.A1095T	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	1044					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						GACCATCCGCGCCAAGCCCTT	0.612																																																0								G	THR/ALA,THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	108	90	96		2953,3283,3130,2800	4	1	3	dbSNP_134	96	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	IFT122	NM_018262.2,NM_052985.2,NM_052989.1,NM_052990.1	58,58,58,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign	985/1183,1095/1293,1044/1242,934/1132	129233374	1,13005	2203	4300	6503	SO:0001583	missense	55764			AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"WD repeat domain containing", "Intraflagellar transport homologs"	13556	protein-coding gene	gene with protein product		606045	"WD repeat domain 10", "intraflagellar transport 122 homolog (Chlamydomonas)"	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.3130G>A	3.37:g.129233374G>A	ENSP00000324005:p.Ala1044Thr		B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Missense_Mutation	SNP	ENST00000348417.2	37	CCDS3061.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.964504	0.53507	0.0	1.16E-4	ENSG00000163913	ENST00000347300;ENST00000296266;ENST00000507564;ENST00000431818;ENST00000504021;ENST00000349441;ENST00000348417;ENST00000446384;ENST00000440957	T;T;T;T;T;T;T;T	0.65916	0.44;-0.18;-0.07;0.01;0.62;0.59;0.44;0.01	5.18	4.02	0.46733	.	0.113969	0.64402	D	0.000008	T	0.51210	0.1661	L	0.32530	0.975	0.35742	D	0.818777	B;B;B;B;P;P;B;B;B;B	0.34780	0.207;0.236;0.205;0.441;0.468;0.468;0.195;0.427;0.066;0.308	B;B;B;B;B;B;B;B;B;B	0.34991	0.07;0.079;0.038;0.066;0.065;0.053;0.065;0.193;0.015;0.057	T	0.61753	-0.6998	10	0.72032	D	0.01	-17.1118	12.0472	0.53487	0.0:0.0:0.1513:0.8487	.	835;370;1037;432;921;886;934;985;1044;1095	E9PDG2;B3KUD1;E7EQF4;B3KT43;B4DEY9;B4DPW7;Q9BTY4;Q9HBG6-3;Q9HBG6;G3XAB1	.;.;.;.;.;.;.;.;IF122_HUMAN;.	T	985;1095;1037;894;921;934;1044;886;835	ENSP00000323973:A985T;ENSP00000296266:A1095T;ENSP00000425536:A1037T;ENSP00000410946:A894T;ENSP00000422179:A921T;ENSP00000324165:A934T;ENSP00000324005:A1044T;ENSP00000401569:A835T	ENSP00000296266:A1095T	A	+	1	0	IFT122	130716064	1.000000	0.71417	0.997000	0.53966	0.750000	0.42670	4.037000	0.57311	0.822000	0.34565	-0.397000	0.06425	GCC		0.612	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1	NM_018262		A	129233374	G	A	129233374	3	1	734	1	0	0	0	0	1	0	0	0	7557	1087	38	1	3388	1	IFT122	3	129233374	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1893766	129233374	68789056	187	41606											
DNAJC13	23317	broad.mit.edu;mdanderson.org;bcgsc.ca	37	3	132172979	132172979	+	Missense_Mutation	SNP	C	C	T	rs147315244	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:132172979C>T	ENST00000260818.6	+	9	1158	c.910C>T	c.(910-912)Cgg>Tgg	p.R304W	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	304					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						AGGGCAAGTACGGAAATATTC	0.318													C|||	2	0.000399361	0.0	0.0029	5008	,	,		12225	0.0		0.0	False		,,,				2504	0.0															0								C	TRP/ARG	0,4402		0,0,2201	75	88	83		910	4.7	1	3	dbSNP_134	83	1,8565	1.2+/-3.3	0,1,4282	yes	missense	DNAJC13	NM_015268.3	101	0,1,6483	TT,TC,CC		0.0117,0.0,0.0077	probably-damaging	304/2244	132172979	1,12967	2201	4283	6484	SO:0001583	missense	23317			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.910C>T	3.37:g.132172979C>T	ENSP00000260818:p.Arg304Trp		Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	CCDS33857.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	21.2	4.116152	0.77323	0.0	1.17E-4	ENSG00000138246	ENST00000260818	T	0.47177	0.85	5.58	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.69700	0.3140	M	0.84326	2.69	0.58432	D	0.999999	D;D	0.76494	0.999;0.997	D;P	0.71184	0.972;0.813	T	0.75258	-0.3381	10	0.87932	D	0	.	13.9305	0.63991	0.161:0.839:0.0:0.0	.	304;304	A7E2Y5;O75165	.;DJC13_HUMAN	W	304	ENSP00000260818:R304W	ENSP00000260818:R304W	R	+	1	2	DNAJC13	133655669	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	2.165000	0.42396	1.315000	0.45114	0.650000	0.86243	CGG		0.318	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		T	132172979	C	T	132172979	3	4	734	1	0	0	0	0	1	0	0	0	4634	527	19	1	940	1	DNAJC13	3	132172979	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	2939605	132172979	65849451	188	41607											
DNAJC13	23317	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	3	132221145	132221145	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:132221145G>A	ENST00000260818.6	+	40	4797	c.4549G>A	c.(4549-4551)Gta>Ata	p.V1517I		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1517					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						TATTCCCCGCGTAGCTGCTCT	0.403																																																0													131	126	127					3																	132221145		2203	4300	6503	SO:0001583	missense	23317			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.4549G>A	3.37:g.132221145G>A	ENSP00000260818:p.Val1517Ile		Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.856146	0.32791	.	.	ENSG00000138246	ENST00000260818;ENST00000538066	T	0.56444	0.46	5.54	5.54	0.83059	Armadillo-like helical (1);Armadillo-type fold (1);	0.141484	0.49305	D	0.000159	T	0.26231	0.0640	N	0.01576	-0.805	0.33835	D	0.630672	B	0.24882	0.113	B	0.09377	0.004	T	0.33803	-0.9854	10	0.36615	T	0.2	.	15.0241	0.71653	0.0:0.1418:0.8581:0.0	.	1517	O75165	DJC13_HUMAN	I	1517;164	ENSP00000260818:V1517I	ENSP00000260818:V1517I	V	+	1	0	DNAJC13	133703835	1.000000	0.71417	0.748000	0.31131	0.341000	0.28922	4.145000	0.58065	2.585000	0.87301	0.650000	0.86243	GTA		0.403	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		A	132221145	G	A	132221145	3	1	734	1	0	0	0	0	1	0	0	0	4634	1145	40	1	4703	1	DNAJC13	3	132221145	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	48166	132221145	65801285	189	41608											
RAB6B	51560	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	3	133553468	133553468	+	Silent	SNP	C	C	T	rs370450177		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:133553468C>T	ENST00000285208.4	-	7	862	c.513G>A	c.(511-513)gcG>gcA	p.A171A	RAB6B_ENST00000486858.1_Silent_p.A158A|RAB6B_ENST00000469959.1_Intron|RAB6B_ENST00000543906.1_Silent_p.A171A	NM_016577.3	NP_057661.3	Q9NRW1	RAB6B_HUMAN	RAB6B, member RAS oncogene family	171					GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	11						GTAGAGCCGACGCCACACGTC	0.502																																																0								C		0,4406		0,0,2203	116	119	118		513	-10.3	0	3		118	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RAB6B	NM_016577.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		171/209	133553468	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51560			AF166492	CCDS3082.1	3q22.1	2008-05-15			ENSG00000154917	ENSG00000154917		"RAB, member RAS oncogene"	14902	protein-coding gene	gene with protein product		615852					Standard	NM_016577		Approved		uc003epy.3	Q9NRW1	OTTHUMG00000159749	ENST00000285208.4:c.513G>A	3.37:g.133553468C>T			B2R5Z9|B7Z337|D3DND3|Q92929	Silent	SNP	ENST00000285208.4	37	CCDS3082.1																																																																																				0.502	RAB6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357152.1			T	133553468	C	T	133553468	2	4	734	1	0	0	0	0	0	0	0	1	12958	523	19	1		1	RAB6B	3	133553468	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1332323	133553468	64468962	190	41609											
ATR	545	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	3	142272665	142272665	+	Splice_Site	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:142272665A>G	ENST00000350721.4	-	11	2654		c.e11+1		ATR_ENST00000383101.3_Splice_Site	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase						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						AAAATTATCAACCTCCTTTAT	0.308								Other conserved DNA damage response genes																																								0													68	68	68					3																	142272665		2202	4299	6501	SO:0001630	splice_region_variant	545			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"	601215	"ataxia telangiectasia and Rad3 related"			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.2532+1T>C	3.37:g.142272665A>G			Q59HB2|Q7KYL3|Q93051|Q9BXK4	Splice_Site	SNP	ENST00000350721.4	37	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.199697	0.79015	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3122	0.74042	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATR	143755355	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	6.323000	0.72891	2.027000	0.59764	0.477000	0.44152	.		0.308	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184	Intron	G	142272665	A	G	142272665	5	3	734	1	0	0	0	0	0	0	1	0	1204	57	2	3	5548	3	ATR	3	142272665	Splice_Site	SNP	A	TCGA-KN-8428-01A-11D-2310-10	8719197	142272665	55749765	191	41610											
C3orf58	205428	broad.mit.edu	37	3	143691481	143691481	+	Missense_Mutation	SNP	G	G	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:143691481G>C	ENST00000315691.3	+	1	842	c.307G>C	c.(307-309)Ggc>Cgc	p.G103R	C3orf58_ENST00000493396.1_3'UTR|C3orf58_ENST00000441925.2_5'Flank|C3orf58_ENST00000495414.1_5'Flank	NM_173552.3	NP_775823.1	Q8NDZ4	DIA1_HUMAN	chromosome 3 open reading frame 58	103					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						CCGCGAGGGCGGCCGCCGCCG	0.716																																																0													15	19	18					3																	143691481		1964	3965	5929	SO:0001583	missense	205428			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.307G>C	3.37:g.143691481G>C	ENSP00000320081:p.Gly103Arg		B2RCF2|B7Z1W3	Missense_Mutation	SNP	ENST00000315691.3	37	CCDS3130.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.592068	0.46214	.	.	ENSG00000181744	ENST00000315691	T	0.33654	1.4	3.81	3.81	0.43845	.	0.000000	0.85682	D	0.000000	T	0.18173	0.0436	N	0.19112	0.55	0.80722	D	1	B	0.30914	0.3	B	0.29267	0.1	T	0.08785	-1.0705	10	0.32370	T	0.25	.	2.6503	0.04996	0.2473:0.0:0.5175:0.2351	.	103	Q8NDZ4	CC058_HUMAN	R	103	ENSP00000320081:G103R	ENSP00000320081:G103R	G	+	1	0	C3orf58	145174171	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.147000	0.64851	1.981000	0.57761	0.561000	0.74099	GGC		0.716	C3orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355038.1	NM_173552		C	143691481	G	C	143691481	3	2	734	1	0	0	0	0	1	0	0	0	2238	1116	39	4	309	4	C3orf58	3	143691481	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1418816	143691481	54330949	192	41611											
TM4SF1	4071	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	3	149093475	149093475	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:149093475G>A	ENST00000305366.3	-	2	576	c.259C>T	c.(259-261)Cga>Tga	p.R87*	TM4SF1_ENST00000472441.1_De_novo_Start_OutOfFrame|TM4SF1-AS1_ENST00000496491.1_RNA|TM4SF1-AS1_ENST00000484046.1_RNA	NM_014220.2	NP_055035.1	P30408	T4S1_HUMAN	transmembrane 4 L six family member 1	87						integral component of plasma membrane (GO:0005887)				endometrium(3)|large_intestine(1)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			ACCGCACATCGTTTGCCACAG	0.512																																																0													193	167	176					3																	149093475		2203	4300	6503	SO:0001587	stop_gained	4071			M90657	CCDS3143.1	3q21-q25	2005-03-21	2005-03-21		ENSG00000169908	ENSG00000169908			11853	protein-coding gene	gene with protein product		191155	"transmembrane 4 superfamily member 1"	M3S1		1565644	Standard	NM_014220		Approved	L6	uc003exb.1	P30408	OTTHUMG00000159597	ENST00000305366.3:c.259C>T	3.37:g.149093475G>A	ENSP00000304277:p.Arg87*		Q6IB51	Nonsense_Mutation	SNP	ENST00000305366.3	37	CCDS3143.1	.	.	.	.	.	.	.	.	.	.	G	37	6.444988	0.97572	.	.	ENSG00000169908	ENST00000305366;ENST00000383054	.	.	.	5.77	0.387	0.16259	.	0.141035	0.47852	D	0.000210	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.6632	14.9699	0.71226	0.0:0.0:0.4858:0.5142	.	.	.	.	X	87	.	ENSP00000304277:R87X	R	-	1	2	TM4SF1	150576165	0.999000	0.42202	0.881000	0.34555	0.947000	0.59692	0.628000	0.24522	-0.156000	0.11079	-0.262000	0.10625	CGA		0.512	TM4SF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356368.1			A	149093475	G	A	149093475	4	1	734	1	0	0	0	0	0	1	0	0	15971	1153	40	1	365	1	TM4SF1	3	149093475	Nonsense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	5401994	149093475	48928955	193	41612											
WDR49	151790	broad.mit.edu	37	3	167272531	167272531	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:167272531G>T	ENST00000308378.3	-	6	1012	c.707C>A	c.(706-708)gCt>gAt	p.A236D	WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Missense_Mutation_p.A289D|WDR49_ENST00000476376.1_Missense_Mutation_p.A61D	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	236										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						AATATCCACAGCTCCATCTTG	0.363																																																0													148	139	142					3																	167272531		2203	4298	6501	SO:0001583	missense	151790			AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"WD repeat domain containing"	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.707C>A	3.37:g.167272531G>T	ENSP00000311343:p.Ala236Asp		Q8N297	Missense_Mutation	SNP	ENST00000308378.3	37	CCDS3201.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.20|11.20	1.568457|1.568457	0.28003|0.28003	.|.	.|.	ENSG00000174776|ENSG00000174776	ENST00000308378;ENST00000476376;ENST00000453925|ENST00000472600	T;T;T|.	0.55930|.	0.49;1.26;0.89|.	5.36|5.36	1.22|1.22	0.21188|0.21188	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.703897|.	0.14640|.	N|.	0.307292|.	T|T	0.32133|0.32133	0.0819|0.0819	L|L	0.38531|0.38531	1.155|1.155	0.25661|0.25661	N|N	0.986003|0.986003	B;B|.	0.14805|.	0.011;0.009|.	B;B|.	0.13407|.	0.009;0.006|.	T|T	0.24476|0.24476	-1.0159|-1.0159	10|5	0.32370|.	T|.	0.25|.	.|.	5.3587|5.3587	0.16075|0.16075	0.1605:0.0:0.5575:0.2821|0.1605:0.0:0.5575:0.2821	.|.	289;236|.	E7EQK3;Q8IV35|.	.;WDR49_HUMAN|.	D|M	236;61;289|301	ENSP00000311343:A236D;ENSP00000420508:A61D;ENSP00000410863:A289D|.	ENSP00000311343:A236D|.	A|L	-|-	2|1	0|2	WDR49|WDR49	168755225|168755225	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.632000|0.632000	0.37999|0.37999	1.040000|1.040000	0.30278|0.30278	0.230000|0.230000	0.21059|0.21059	0.585000|0.585000	0.79938|0.79938	GCT|CTG		0.363	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3	NM_178824		T	167272531	G	T	167272531	3	4	734	1	0	0	0	0	1	0	0	0	17307	971	34	4	1426	4	WDR49	3	167272531	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	18179056	167272531	30749899	194	41613											
DCUN1D1	54165	broad.mit.edu	37	3	182681755	182681755	+	Silent	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:182681755A>G	ENST00000292782.4	-	3	456	c.303T>C	c.(301-303)agT>agC	p.S101S	DCUN1D1_ENST00000469954.1_Silent_p.S86S	NM_020640.2	NP_065691.2	Q96GG9	DCNL1_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 1	101	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.					ubiquitin ligase complex (GO:0000151)		p.S101R(1)		endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			TAATCAACACACTAATGCTGG	0.418																																																1	Substitution - Missense(1)	ovary(1)											152	125	134					3																	182681755		2203	4300	6503	SO:0001819	synonymous_variant	54165			AF292100, AK056335	CCDS3240.1	3q26.3	2013-06-10	2013-06-10		ENSG00000043093	ENSG00000043093			18184	protein-coding gene	gene with protein product	"squamous cell carcinoma related oncogene"	605905	"DCN1, defective in cullin neddylation 1, domain containing 1 (S. cerevisiae)"			10777668, 15988528	Standard	NM_020640		Approved	RP42, SCRO, DCUN1L1, Tes3, SCCRO	uc003fld.1	Q96GG9	OTTHUMG00000158314	ENST00000292782.4:c.303T>C	3.37:g.182681755A>G			B2RB37|Q7L3G9|Q8TEX7|Q9H6M1|Q9HCT3	Silent	SNP	ENST00000292782.4	37	CCDS3240.1																																																																																				0.418	DCUN1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350658.1	NM_020640		G	182681755	A	G	182681755	2	3	734	1	0	0	0	0	0	0	0	1	4315	156	6	3		3	DCUN1D1	3	182681755	Silent	SNP	A	TCGA-KN-8428-01A-11D-2310-10	15409224	182681755	15340675	195	41614											
EIF4G1	1981	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	3	184038753	184038753	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:184038753G>A	ENST00000346169.2	+	9	940	c.669G>A	c.(667-669)acG>acA	p.T223T	EIF4G1_ENST00000414031.1_Silent_p.T183T|EIF4G1_ENST00000382330.3_Silent_p.T230T|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000435046.2_Silent_p.T27T|EIF4G1_ENST00000434061.2_Silent_p.T27T|EIF4G1_ENST00000441154.1_Silent_p.T59T|EIF4G1_ENST00000411531.1_Silent_p.T183T|EIF4G1_ENST00000350481.5_Silent_p.T59T|EIF4G1_ENST00000424196.1_Silent_p.T230T|EIF4G1_ENST00000427845.1_Silent_p.T136T|EIF4G1_ENST00000342981.4_Silent_p.T223T|EIF4G1_ENST00000392537.2_Silent_p.T136T|EIF4G1_ENST00000319274.6_Silent_p.T223T|EIF4G1_ENST00000352767.3_Silent_p.T230T	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	223					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)			ATGGGGAGACGCCCCAGGTTG	0.532																																																0													48	46	47					3																	184038753		2203	4300	6503	SO:0001819	synonymous_variant	1981			D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"Parkinson disease"	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.669G>A	3.37:g.184038753G>A			D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Silent	SNP	ENST00000346169.2	37	CCDS3259.1																																																																																				0.532	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		A	184038753	G	A	184038753	2	1	734	1	0	0	0	0	0	0	0	1	5038	1074	38	1		1	EIF4G1	3	184038753	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1356998	184038753	13983677	196	41615											
CLCN2	1181	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	3	184073265	184073265	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:184073265C>T	ENST00000265593.4	-	12	1394	c.1223G>A	c.(1222-1224)cGc>cAc	p.R408H	CLCN2_ENST00000344937.7_Missense_Mutation_p.R408H|CLCN2_ENST00000475279.1_5'UTR|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000423355.2_Missense_Mutation_p.R49H|CLCN2_ENST00000434054.2_Missense_Mutation_p.R364H|CLCN2_ENST00000457512.1_Missense_Mutation_p.R408H	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	408					cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	CAGGCCCTGGCGGACCCACGT	0.587																																																0													129	115	120					3																	184073265		2203	4300	6503	SO:0001583	missense	1181			S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"Ion channels / Chloride channels : Voltage-sensitive"	2020	protein-coding gene	gene with protein product		600570	"chloride channel 2"			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.1223G>A	3.37:g.184073265C>T	ENSP00000265593:p.Arg408His		B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Missense_Mutation	SNP	ENST00000265593.4	37	CCDS3263.1	.	.	.	.	.	.	.	.	.	.	c	13.81	2.349514	0.41599	.	.	ENSG00000114859	ENST00000265593;ENST00000344937;ENST00000423355;ENST00000434054;ENST00000457512	D;D;T;D;D	0.85013	-1.88;-1.83;-0.36;-1.93;-1.92	5.6	3.81	0.43845	Chloride channel, core (2);	0.322809	0.33732	N	0.004606	T	0.78572	0.4304	L	0.40543	1.245	0.33251	D	0.558472	B;B;B;B;B	0.18741	0.02;0.03;0.013;0.011;0.03	B;B;B;B;B	0.19391	0.013;0.025;0.01;0.004;0.015	T	0.75825	-0.3181	10	0.56958	D	0.05	-8.8308	9.476	0.38871	0.0:0.6653:0.0:0.3347	.	408;364;408;408;408	B4DYE3;E9PBD9;E9PCD2;P51788-3;P51788	.;.;.;.;CLCN2_HUMAN	H	408;408;49;364;408	ENSP00000265593:R408H;ENSP00000345056:R408H;ENSP00000412226:R49H;ENSP00000400425:R364H;ENSP00000391928:R408H	ENSP00000265593:R408H	R	-	2	0	CLCN2	185555959	1.000000	0.71417	1.000000	0.80357	0.719000	0.41307	1.782000	0.38654	0.342000	0.23796	-1.119000	0.02030	CGC		0.587	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345571.1			T	184073265	C	T	184073265	3	4	734	1	0	0	0	0	1	0	0	0	3465	768	27	1	1525	1	CLCN2	3	184073265	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	34512	184073265	13949165	197	41616											
DGKG	1608	broad.mit.edu;mdanderson.org;bcgsc.ca	37	3	185993360	185993360	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:185993360G>A	ENST00000265022.3	-	10	1425	c.886C>T	c.(886-888)Cgc>Tgc	p.R296C	DGKG_ENST00000382164.4_Missense_Mutation_p.R296C|DGKG_ENST00000544847.1_Missense_Mutation_p.R296C|DGKG_ENST00000344484.4_Missense_Mutation_p.R296C	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	296					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)	CCTTGCTTGCGGACGCCCATG	0.547																																																0													114	99	104					3																	185993360		2203	4300	6503	SO:0001583	missense	1608			AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"EF-hand domain containing"	2853	protein-coding gene	gene with protein product		601854	"diacylglycerol kinase, gamma (90kD)"	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.886C>T	3.37:g.185993360G>A	ENSP00000265022:p.Arg296Cys		B2RAH4|Q2M1H4|Q5FWG1	Missense_Mutation	SNP	ENST00000265022.3	37	CCDS3274.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.079743	0.55753	.	.	ENSG00000058866	ENST00000265022;ENST00000344484;ENST00000382164;ENST00000544847;ENST00000538691;ENST00000437018	D;D;D;D;D	0.93076	-3.16;-3.16;-3.16;-3.16;-3.16	5.31	3.47	0.39725	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.140036	0.48767	D	0.000164	D	0.94195	0.8137	L	0.55990	1.75	0.58432	D	0.999994	D;D;D;D	0.76494	0.997;0.997;0.999;0.999	P;P;P;P	0.61722	0.88;0.828;0.88;0.893	D	0.93299	0.6675	10	0.72032	D	0.01	.	10.2937	0.43612	0.0:0.2752:0.5826:0.1422	.	296;296;296;296	F5GX27;P49619-2;P49619-3;P49619	.;.;.;DGKG_HUMAN	C	296;296;296;296;299;47	ENSP00000265022:R296C;ENSP00000339777:R296C;ENSP00000371599:R296C;ENSP00000440507:R296C;ENSP00000395526:R47C	ENSP00000265022:R296C	R	-	1	0	DGKG	187476054	0.792000	0.28813	0.643000	0.29450	0.945000	0.59286	1.063000	0.30567	0.680000	0.31366	0.655000	0.94253	CGC		0.547	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344800.3			A	185993360	G	A	185993360	3	1	734	1	0	0	0	0	1	0	0	0	4471	1116	39	1	1553	1	DGKG	3	185993360	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1920095	185993360	12029070	198	41617											
TP63	8626	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	3	189526150	189526150	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:189526150C>T	ENST00000264731.3	+	4	503	c.414C>T	c.(412-414)caC>caT	p.H138H	TP63_ENST00000440651.2_Silent_p.H138H|TP63_ENST00000449992.1_Intron|TP63_ENST00000320472.5_Silent_p.H138H|TP63_ENST00000392463.2_Silent_p.H44H|TP63_ENST00000354600.5_Silent_p.H44H|TP63_ENST00000437221.1_Silent_p.H44H|TP63_ENST00000382063.4_Intron|TP63_ENST00000392461.3_Silent_p.H44H|TP63_ENST00000392460.3_Silent_p.H138H|TP63_ENST00000418709.2_Silent_p.H138H|TP63_ENST00000456148.1_Silent_p.H44H	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	138					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)		ACACAGACCACGCGCAGAACA	0.612										HNSCC(45;0.13)																																						0													180	135	150					3																	189526150		2203	4300	6503	SO:0001819	synonymous_variant	8626			AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"tumor protein p73-like", "tumor protein p53-like", "tumor protein p53-competing protein"	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.414C>T	3.37:g.189526150C>T			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	CCDS3293.1																																																																																				0.612	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722		T	189526150	C	T	189526150	2	4	734	1	0	0	0	0	0	0	0	1	16397	535	19	1		1	TP63	3	189526150	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	3532790	189526150	8496280	199	41618											
ATP13A3	79572	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	3	194149621	194149621	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:194149621T>C	ENST00000439040.1	-	28	3691	c.2900A>G	c.(2899-2901)cAg>cGg	p.Q967R	ATP13A3_ENST00000256031.4_Missense_Mutation_p.Q967R			Q9H7F0	AT133_HUMAN	ATPase type 13A3	967						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)		GAAGAGAAACTGGAAGTCTCC	0.294																																																0													59	55	56					3																	194149621		1809	4065	5874	SO:0001583	missense	79572			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.2900A>G	3.37:g.194149621T>C	ENSP00000416508:p.Gln967Arg		Q8NC11|Q96KS1	Missense_Mutation	SNP	ENST00000439040.1	37	CCDS43187.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.751223	0.89753	.	.	ENSG00000133657	ENST00000439040;ENST00000256031	D;D	0.92249	-3.0;-3.0	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.97015	0.9025	M	0.94021	3.485	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	D	0.97978	1.0347	10	0.87932	D	0	0.0469	15.3339	0.74234	0.0:0.0:0.0:1.0	.	967	Q9H7F0	AT133_HUMAN	R	967	ENSP00000416508:Q967R;ENSP00000256031:Q967R	ENSP00000256031:Q967R	Q	-	2	0	ATP13A3	195630910	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.673000	0.83973	2.279000	0.76181	0.533000	0.62120	CAG		0.294	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2	NM_024524		C	194149621	T	C	194149621	3	2	734	1	0	0	0	0	1	0	0	0	1125	1580	55	3	804	3	ATP13A3	3	194149621	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	4623471	194149621	3872809	200	41619											
DLG1	1739	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	3	196792176	196792176	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:196792176C>T	ENST00000419354.1	-	23	2663	c.2377G>A	c.(2377-2379)Gtt>Att	p.V793I	DLG1_ENST00000448528.2_Missense_Mutation_p.V793I|DLG1_ENST00000357674.4_Missense_Mutation_p.V782I|DLG1_ENST00000443183.1_Missense_Mutation_p.V689I|DLG1_ENST00000346964.2_Missense_Mutation_p.V815I|DLG1_ENST00000452595.1_Missense_Mutation_p.V677I|DLG1_ENST00000314062.3_Missense_Mutation_p.V742I|DLG1_ENST00000450955.1_Missense_Mutation_p.V782I|DLG1_ENST00000392382.2_Missense_Mutation_p.V760I|DLG1_ENST00000422288.1_Missense_Mutation_p.V742I			Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	793	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				actin filament organization (GO:0007015)|activation of protein kinase activity (GO:0032147)|amyloid precursor protein metabolic process (GO:0042982)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|cortical actin cytoskeleton organization (GO:0030866)|dephosphorylation (GO:0016311)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell proliferation (GO:0001935)|establishment or maintenance of cell polarity (GO:0007163)|hard palate development (GO:0060022)|immunological synapse formation (GO:0001771)|lens development in camera-type eye (GO:0002088)|membrane raft organization (GO:0031579)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell proliferation (GO:0042130)|nucleotide phosphorylation (GO:0046939)|peristalsis (GO:0030432)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|protein localization to plasma membrane (GO:0072659)|regulation of membrane potential (GO:0042391)|regulation of myelination (GO:0031641)|regulation of sodium ion transmembrane transport (GO:1902305)|reproductive structure development (GO:0048608)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|synaptic transmission (GO:0007268)|T cell activation (GO:0042110)|T cell cytokine production (GO:0002369)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	basal lamina (GO:0005605)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell projection membrane (GO:0031253)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|immunological synapse (GO:0001772)|intercalated disc (GO:0014704)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|membrane raft (GO:0045121)|microtubule (GO:0005874)|MPP7-DLG1-LIN7 complex (GO:0097025)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	cytoskeletal protein binding (GO:0008092)|guanylate kinase activity (GO:0004385)|ion channel binding (GO:0044325)|L27 domain binding (GO:0097016)|mitogen-activated protein kinase kinase binding (GO:0031434)|phosphatase binding (GO:0019902)|phosphoprotein phosphatase activity (GO:0004721)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		ACAGACTGAACACTTGTTCCA	0.373																																																0													235	236	235					3																	196792176		2203	4300	6503	SO:0001583	missense	1739			U13897	CCDS3327.1, CCDS43194.1, CCDS56300.1, CCDS56301.1, CCDS75072.1	3q29	2008-12-15	2001-11-28		ENSG00000075711	ENSG00000075711			2900	protein-coding gene	gene with protein product	"discs large homolog 1", "presynaptic protein SAP97", "synapse-associated protein 97"	601014	"discs, large (Drosophila) homolog 1"			7937897, 8825652	Standard	NM_004087		Approved	SAP97, SAP-97, hdlg, DLGH1, dJ1061C18.1.1	uc003fxn.4	Q12959	OTTHUMG00000047972	ENST00000419354.1:c.2377G>A	3.37:g.196792176C>T	ENSP00000407531:p.Val793Ile		A5YKK7|B4DGU1|B4DGZ8|B7ZMM0|B9EIQ5|D3DXB8|D3DXB9|E7EWL7|E9PG21|Q12958	Missense_Mutation	SNP	ENST00000419354.1	37	CCDS43194.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.268692	0.40095	.	.	ENSG00000075711	ENST00000346964;ENST00000359922;ENST00000357674;ENST00000381807;ENST00000314062;ENST00000419354;ENST00000452595;ENST00000422288;ENST00000448528;ENST00000443183;ENST00000392382;ENST00000450955	T;T;T;T;T;T;T;T;T;T	0.16897	2.31;2.31;2.31;2.31;2.31;2.31;2.31;2.31;2.31;2.31	5.32	5.32	0.75619	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.000000	0.85682	D	0.000000	T	0.11024	0.0269	N	0.12663	0.25	0.49582	D	0.999805	B;P;B;P;B	0.40302	0.087;0.712;0.174;0.479;0.145	B;B;B;B;B	0.38225	0.025;0.252;0.075;0.268;0.045	T	0.24225	-1.0166	10	0.14252	T	0.57	.	17.9766	0.89129	0.0:1.0:0.0:0.0	.	782;677;689;793;815	Q12959-4;E9PG21;E7EWL7;Q12959;Q12959-2	.;.;.;DLG1_HUMAN;.	I	815;806;782;780;742;793;677;742;793;689;760;782	ENSP00000345731:V815I;ENSP00000350303:V782I;ENSP00000321087:V742I;ENSP00000407531:V793I;ENSP00000398939:V677I;ENSP00000413238:V742I;ENSP00000391732:V793I;ENSP00000396658:V689I;ENSP00000376187:V760I;ENSP00000411278:V782I	ENSP00000321087:V742I	V	-	1	0	DLG1	198276573	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.844000	0.48246	2.497000	0.84241	0.467000	0.42956	GTT		0.373	DLG1-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000258170.2	NM_004087		T	196792176	C	T	196792176	3	4	734	1	0	0	0	0	1	0	0	0	4556	478	17	2	353	2	DLG1	3	196792176	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	2642555	196792176	1230254	201	41620											
SLC26A1	10861	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	4	983647	983647	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:983647C>T	ENST00000361661.2	-	4	1457	c.1080G>A	c.(1078-1080)gcG>gcA	p.A360A	SLC26A1_ENST00000398516.2_Silent_p.A360A|IDUA_ENST00000453894.1_Intron|SLC26A1_ENST00000513138.1_5'Flank|IDUA_ENST00000247933.4_Intron|SLC26A1_ENST00000398520.2_Intron	NM_213613.2	NP_998778.1	Q9H2B4	S26A1_HUMAN	solute carrier family 26 (anion exchanger), member 1	360					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|chloride transport (GO:0006821)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|oxalate transport (GO:0019532)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|chloride transmembrane transporter activity (GO:0015108)|oxalate transmembrane transporter activity (GO:0019531)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CGAACATCTCCGCCAGCGAGA	0.662																																																0													14	12	13					4																	983647		2149	4239	6388	SO:0001819	synonymous_variant	10861			AF297659	CCDS33933.1, CCDS33934.1	4p16.3	2013-07-18	2013-07-18		ENSG00000145217	ENSG00000145217		"Solute carriers"	10993	protein-coding gene	gene with protein product		610130	"solute carrier family 26 (sulfate transporter), member 1"				Standard	NM_213613		Approved	SAT-1, EDM4	uc003gcc.3	Q9H2B4	OTTHUMG00000160003	ENST00000361661.2:c.1080G>A	4.37:g.983647C>T			A8K9N2|Q7Z5R3|Q96BK0	Silent	SNP	ENST00000361661.2	37	CCDS33934.1																																																																																				0.662	SLC26A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358783.1	NM_022042, NM_134425		T	983647	C	T	983647	2	4	734	1	0	0	0	0	0	0	0	1	14520	639	23	1		1	SLC26A1	4	983647	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10		983647	190170629	202	41621											
FGFRL1	53834	ucsc.edu	37	4	1017489	1017489	+	Missense_Mutation	SNP	A	A	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:1017489A>C	ENST00000398484.2	+	5	993	c.413A>C	c.(412-414)gAc>gCc	p.D138A	FGFRL1_ENST00000510644.1_Missense_Mutation_p.D138A|FGFRL1_ENST00000264748.6_Missense_Mutation_p.D138A|FGFRL1_ENST00000504138.1_Missense_Mutation_p.D138A			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	138					diaphragm development (GO:0060539)|heart valve morphogenesis (GO:0003179)|negative regulation of cell proliferation (GO:0008285)|skeletal system development (GO:0001501)|ventricular septum morphogenesis (GO:0060412)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GGTCAAGAGGACCCCGCCAGC	0.697																																																0													6	8	7					4																	1017489		2156	4227	6383	SO:0001583	missense	53834				CCDS3344.1	4p16	2013-01-11			ENSG00000127418	ENSG00000127418		"Immunoglobulin superfamily / I-set domain containing"	3693	protein-coding gene	gene with protein product		605830					Standard	NM_021923		Approved		uc003gcg.3	Q8N441	OTTHUMG00000118998	ENST00000398484.2:c.413A>C	4.37:g.1017489A>C	ENSP00000381498:p.Asp138Ala		B2RAU9|Q6PJN1|Q9BXN7|Q9H4D7	Missense_Mutation	SNP	ENST00000398484.2	37	CCDS3344.1	.	.	.	.	.	.	.	.	.	.	a	7.133	0.580375	0.13686	.	.	ENSG00000127418	ENST00000398484;ENST00000542622;ENST00000510644;ENST00000504138;ENST00000507339;ENST00000264748	T;T;T;T;T	0.72505	-0.66;-0.66;-0.66;0.08;-0.66	4.39	4.39	0.52855	.	0.765487	0.12236	N	0.487022	T	0.57330	0.2046	N	0.24115	0.695	0.44149	D	0.996949	B	0.16396	0.017	B	0.12156	0.007	T	0.49072	-0.8977	10	0.26408	T	0.33	-24.6479	12.834	0.57763	1.0:0.0:0.0:0.0	.	138	Q8N441	FGRL1_HUMAN	A	138;108;138;138;138;138	ENSP00000381498:D138A;ENSP00000425025:D138A;ENSP00000423091:D138A;ENSP00000424037:D138A;ENSP00000264748:D138A	ENSP00000264748:D138A	D	+	2	0	FGFRL1	1007489	0.247000	0.23920	0.998000	0.56505	0.806000	0.45545	0.568000	0.23623	1.620000	0.50308	0.358000	0.22013	GAC		0.697	FGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239195.2	NM_021923		C	1017489	A	C	1017489	3	2	734	1	0	0	0	0	1	0	0	0	5871	275	10	5	423	5	FGFRL1	4	1017489	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	33842	1017489	190136787	203	41622											
KIAA1530	57654	ucsc.edu	37	4	1377724	1377724	+	Missense_Mutation	SNP	G	G	A	rs139310992	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:1377724G>A	ENST00000389851.4	+	13	2479	c.2032G>A	c.(2032-2034)Gcc>Acc	p.A678T	UVSSA_ENST00000511563.1_Missense_Mutation_p.A229T|UVSSA_ENST00000507531.1_Missense_Mutation_p.A678T|UVSSA_ENST00000511216.1_Missense_Mutation_p.A678T|UVSSA_ENST00000512728.1_Missense_Mutation_p.A229T	NM_020894.2	NP_065945.2	Q2YD98	UVSSA_HUMAN	UV-stimulated scaffold protein A	678					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)										AAAAGTCTTCGCCAAGTAAGA	0.627													G|||	4	0.000798722	0.0023	0.0014	5008	,	,		16905	0.0		0.0	False		,,,				2504	0.0															0								G	THR/ALA	17,4385	24.3+/-50.5	1,15,2185	53	50	51		2032	2.2	1	4	dbSNP_134	51	0,8600		0,0,4300	yes	missense	KIAA1530	NM_020894.2	58	1,15,6485	AA,AG,GG		0.0,0.3862,0.1307	possibly-damaging	678/710	1377724	17,12985	2201	4300	6501	SO:0001583	missense	57654			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.2032G>A	4.37:g.1377724G>A	ENSP00000374501:p.Ala678Thr		A8K9E6|B2RU11|Q8WTX4|Q9P1Z8	Missense_Mutation	SNP	ENST00000389851.4	37	CCDS33938.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	12.25	1.881607	0.33255	0.003862	0.0	ENSG00000163945	ENST00000511216;ENST00000389851;ENST00000507531;ENST00000511563;ENST00000512728	T;T;T;T;T	0.44083	1.53;1.53;1.53;0.93;0.93	4.99	2.15	0.27550	.	0.336647	0.31821	N	0.007019	T	0.27967	0.0689	L	0.60455	1.87	0.26539	N	0.974118	P	0.44946	0.846	B	0.34242	0.178	T	0.17349	-1.0372	10	0.30078	T	0.28	.	4.1502	0.10234	0.2149:0.4065:0.3786:0.0	.	678	Q2YD98	K1530_HUMAN	T	678;678;678;229;229	ENSP00000425130:A678T;ENSP00000374501:A678T;ENSP00000421741:A678T;ENSP00000423340:A229T;ENSP00000427701:A229T	ENSP00000374501:A678T	A	+	1	0	KIAA1530	1367724	1.000000	0.71417	0.988000	0.46212	0.389000	0.30415	3.855000	0.55957	0.566000	0.29273	0.505000	0.49811	GCC		0.627	UVSSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359480.1	NM_020894		A	1377724	G	A	1377724	3	1	734	1	0	0	0	0	1	0	0	0	8243	1087	38	1	2078	1	KIAA1530	4	1377724	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	360235	1377724	189776552	204	41623											
TACC3	10460	broad.mit.edu	37	4	1746487	1746487	+	Silent	SNP	G	G	A	rs148572882		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:1746487G>A	ENST00000313288.4	+	15	2485	c.2379G>A	c.(2377-2379)gcG>gcA	p.A793A		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	793					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|cytoplasmic sequestering of transcription factor (GO:0042994)|hemopoiesis (GO:0030097)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of cell cycle (GO:0051726)|regulation of microtubule-based process (GO:0032886)|response to hypoxia (GO:0001666)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			AGGCGGAAGCGTTGGCCCTCC	0.672																																					Ovarian(120;482 2294 11894 35824)											0								G		1,4391	2.1+/-5.4	0,1,2195	27	28	28		2379	-10.4	0	4	dbSNP_134	28	1,8595		0,1,4297	no	coding-synonymous	TACC3	NM_006342.1		0,2,6492	AA,AG,GG		0.0116,0.0228,0.0154		793/839	1746487	2,12986	2196	4298	6494	SO:0001819	synonymous_variant	10460			AF093543	CCDS3352.1	4p16.3	2008-07-29			ENSG00000013810	ENSG00000013810			11524	protein-coding gene	gene with protein product		605303				17675670	Standard	NM_006342		Approved	ERIC1	uc003gdo.3	Q9Y6A5	OTTHUMG00000089535	ENST00000313288.4:c.2379G>A	4.37:g.1746487G>A			Q2NKK4|Q3KQS5|Q9UMQ1	Silent	SNP	ENST00000313288.4	37	CCDS3352.1																																																																																				0.672	TACC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000203730.2			A	1746487	G	A	1746487	2	1	734	1	0	0	0	0	0	0	0	1	15508	1132	40	1		1	TACC3	4	1746487	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	368763	1746487	189407789	205	41624											
NOP14	8602	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	4	2950032	2950032	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:2950032G>A	ENST00000314262.6	-	9	1434	c.1386C>T	c.(1384-1386)ctC>ctT	p.L462L	NOP14-AS1_ENST00000515194.1_RNA|NOP14-AS1_ENST00000507702.1_RNA|NOP14_ENST00000398071.4_Silent_p.L462L|NOP14_ENST00000502735.1_Silent_p.L462L|NOP14-AS1_ENST00000505731.1_RNA|NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000416614.2_Silent_p.L462L	NM_003703.1	NP_003694.1	P78316	NOP14_HUMAN	NOP14 nucleolar protein	462					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						TTCCTTCTGCGAGACTCGGGT	0.473																																																0													258	204	222					4																	2950032		2203	4300	6503	SO:0001819	synonymous_variant	8602			AB000467	CCDS33945.1	4p16.3	2012-12-10	2012-12-10	2008-10-13	ENSG00000087269	ENSG00000087269			16821	protein-coding gene	gene with protein product	"NOP14 homolog (S. cerevisiae)"	611526	"chromosome 4 open reading frame 9", "nucleolar protein 14", "nucleolar protein 14 homolog (yeast)", "NOP14 nucleolar protein homolog (yeast)"	C4orf9, NOL14		9734812, 11694595	Standard	XR_241655		Approved	RES4-25, UTP2	uc003ggj.1	P78316	OTTHUMG00000159911	ENST00000314262.6:c.1386C>T	4.37:g.2950032G>A			D3DVR6|Q7LGI5|Q7Z6K0|Q8TBR6	Silent	SNP	ENST00000314262.6	37	CCDS33945.1																																																																																				0.473	NOP14-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358135.2	NM_003703		A	2950032	G	A	2950032	2	1	734	1	0	0	0	0	0	0	0	1	10538	1045	37	1		1	NOP14	4	2950032	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1203545	2950032	188204244	206	41625											
HTT	3064	broad.mit.edu;ucsc.edu;mdanderson.org	37	4	3107131	3107131	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:3107131G>A	ENST00000355072.5	+	5	721	c.576G>A	c.(574-576)gaG>gaA	p.E192E		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	192					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)		GGTTTGCTGAGCTGGCTCACC	0.532																																																0													115	119	118					4																	3107131		2151	4272	6423	SO:0001819	synonymous_variant	3064			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.576G>A	4.37:g.3107131G>A			Q9UQB7	Silent	SNP	ENST00000355072.5	37	CCDS43206.1																																																																																				0.532	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		A	3107131	G	A	3107131	2	1	734	1	0	0	0	0	0	0	0	1	7459	962	34	2		2	HTT	4	3107131	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	157099	3107131	188047145	207	41626											
HGFAC	3083	hgsc.bcm.edu;mdanderson.org	37	4	3446155	3446155	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:3446155G>A	ENST00000382774.3	+	6	831	c.716G>A	c.(715-717)gGc>gAc	p.G239D	HGFAC_ENST00000511533.1_Missense_Mutation_p.G239D	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	239	Fibronectin type-I. {ECO:0000255|PROSITE- ProRule:PRU00478}.				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)		TGGTGCGAAGGCACCCGACAT	0.701																																																0													10	12	11					4																	3446155		2169	4276	6445	SO:0001583	missense	3083			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.716G>A	4.37:g.3446155G>A	ENSP00000372224:p.Gly239Asp		Q14726|Q2M1W7|Q53X47	Missense_Mutation	SNP	ENST00000382774.3	37	CCDS3369.1	.	.	.	.	.	.	.	.	.	.	G	0.101	-1.152830	0.01700	.	.	ENSG00000109758	ENST00000382774;ENST00000511533	D;D	0.88201	-2.35;-2.32	3.74	-2.65	0.06095	Fibronectin, type I (2);	0.603497	0.17051	N	0.188911	T	0.73418	0.3584	N	0.22421	0.69	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.10450	0.005;0.002	T	0.58014	-0.7711	10	0.12103	T	0.63	.	4.4014	0.11388	0.6291:0.1705:0.2004:0.0	.	239;239	D6RAR4;Q04756	.;HGFA_HUMAN	D	239	ENSP00000372224:G239D;ENSP00000421801:G239D	ENSP00000372224:G239D	G	+	2	0	HGFAC	3415953	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-0.212000	0.09319	-0.124000	0.11724	0.462000	0.41574	GGC		0.701	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206607.3			A	3446155	G	A	3446155	3	1	734	1	0	0	0	0	1	0	0	0	7088	1203	42	2	738	2	HGFAC	4	3446155	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	339024	3446155	187708121	208	41627											
ZBTB49	166793	ucsc.edu;mdanderson.org	37	4	4322722	4322722	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:4322722C>T	ENST00000337872.4	+	8	2098	c.1977C>T	c.(1975-1977)atC>atT	p.I659I	ZBTB49_ENST00000355834.3_Silent_p.I537I|ZBTB49_ENST00000538529.1_Silent_p.I142I|RP11-265O12.1_ENST00000509015.1_lincRNA	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	659					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						GGTCCATGATCCAACCTCATG	0.507																																																0													44	43	43					4																	4322722		2203	4300	6503	SO:0001819	synonymous_variant	166793			AK095878	CCDS3375.1	4p16.2	2013-01-08	2010-01-26	2010-01-26	ENSG00000168826	ENSG00000168826		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	19883	protein-coding gene	gene with protein product			"zinc finger protein 509"	ZNF509		12477932	Standard	NM_145291		Approved	FLJ38559	uc003ghu.3	Q6ZSB9	OTTHUMG00000090325	ENST00000337872.4:c.1977C>T	4.37:g.4322722C>T			Q59FJ4|Q5EBN0|Q8TB80	Silent	SNP	ENST00000337872.4	37	CCDS3375.1																																																																																				0.507	ZBTB49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206688.3	NM_145291		T	4322722	C	T	4322722	2	4	734	1	0	0	0	0	0	0	0	1	17555	845	30	2		2	ZBTB49	4	4322722	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	876567	4322722	186831554	209	41628											
SORCS2	57537	broad.mit.edu	37	4	7725501	7725501	+	Silent	SNP	C	C	T	rs566460730	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:7725501C>T	ENST00000507866.2	+	19	2611	c.2502C>T	c.(2500-2502)acC>acT	p.T834T	SORCS2_ENST00000329016.9_Silent_p.T662T	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	834	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.				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						TTACACTGACCGGGGAGCCCA	0.612													C|||	2	0.000399361	0.0	0.0	5008	,	,		17345	0.001		0.001	False		,,,				2504	0.0															0													129	131	130					4																	7725501		2078	4198	6276	SO:0001819	synonymous_variant	57537			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.2502C>T	4.37:g.7725501C>T			Q9P2L7	Silent	SNP	ENST00000507866.2	37	CCDS47008.1																																																																																				0.612	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	NM_020777		T	7725501	C	T	7725501	2	4	734	1	0	0	0	0	0	0	0	1	14937	639	23	1		1	SORCS2	4	7725501	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	3402779	7725501	183428775	210	41629											
CPZ	8532	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	4	8607769	8607769	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:8607769C>T	ENST00000360986.4	+	5	937	c.763C>T	c.(763-765)Cgg>Tgg	p.R255W	CPZ_ENST00000382480.2_Missense_Mutation_p.R118W|CPZ_ENST00000429646.2_5'UTR|CPZ_ENST00000315782.6_Missense_Mutation_p.R244W	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	255					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						GGTGGCGGGCCGGGAGATGCT	0.602																																																0													132	107	115					4																	8607769		2203	4300	6503	SO:0001583	missense	8532			U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"metallocarboxypeptidase Z"	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.763C>T	4.37:g.8607769C>T	ENSP00000354255:p.Arg255Trp		O00520|Q96MX2	Missense_Mutation	SNP	ENST00000360986.4	37	CCDS33953.1	.	.	.	.	.	.	.	.	.	.	c	17.35	3.366907	0.61513	.	.	ENSG00000109625	ENST00000360986;ENST00000382480;ENST00000315782	T;T;T	0.12465	2.68;2.68;2.68	3.41	1.33	0.21861	Peptidase M14, carboxypeptidase A (1);	0.260464	0.30201	U	0.010174	T	0.45397	0.1340	H	0.95043	3.615	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.57353	-0.7826	10	0.87932	D	0	-31.5712	10.5322	0.44983	0.4571:0.5429:0.0:0.0	.	244;255	Q66K79-2;Q66K79	.;CBPZ_HUMAN	W	255;118;244	ENSP00000354255:R255W;ENSP00000371920:R118W;ENSP00000315074:R244W	ENSP00000315074:R244W	R	+	1	2	CPZ	8658669	0.870000	0.30015	0.889000	0.34880	0.636000	0.38137	1.403000	0.34612	0.631000	0.30412	0.461000	0.40582	CGG		0.602	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207001.4	NM_003652		T	8607769	C	T	8607769	3	4	734	1	0	0	0	0	1	0	0	0	3841	643	23	1	781	1	CPZ	4	8607769	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	882268	8607769	182546507	211	41630											
HS3ST1	9957	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	4	11401504	11401504	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:11401504G>A	ENST00000002596.5	-	2	1300	c.126C>T	c.(124-126)cgC>cgT	p.R42R		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	42					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						CCACGCCATCGCGGACGTCAT	0.692																																																0													23	22	22					4																	11401504		2200	4294	6494	SO:0001819	synonymous_variant	9957			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.126C>T	4.37:g.11401504G>A			B3KUA6|Q6PEY8	Silent	SNP	ENST00000002596.5	37	CCDS3408.1																																																																																				0.692	HS3ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207073.3	NM_005114		A	11401504	G	A	11401504	2	1	734	1	0	0	0	0	0	0	0	1	7365	1074	38	1		1	HS3ST1	4	11401504	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	2793735	11401504	179752772	212	41631											
BOD1L	259282	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	4	13592029	13592029	+	Silent	SNP	G	G	A	rs555836394		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:13592029G>A	ENST00000040738.5	-	14	8325	c.8190C>T	c.(8188-8190)agC>agT	p.S2730S		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2730						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S2730S(1)									TATAAGATTCGCTATGAATTT	0.274													G|||	1	0.000199681	0.0	0.0014	5008	,	,		14939	0.0		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	large_intestine(1)											22	24	24					4																	13592029		2182	4267	6449	SO:0001819	synonymous_variant	259282			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.8190C>T	4.37:g.13592029G>A			Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Silent	SNP	ENST00000040738.5	37	CCDS3411.2																																																																																				0.274	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		A	13592029	G	A	13592029	2	1	734	1	0	0	0	0	0	0	0	1	1483	1078	38	1		1	BOD1L	4	13592029	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	2190525	13592029	177562247	213	41632											
SLIT2	9353	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	4	20533609	20533609	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:20533609G>A	ENST00000504154.1	+	17	1868	c.1616G>A	c.(1615-1617)cGt>cAt	p.R539H	SLIT2_ENST00000273739.5_Missense_Mutation_p.R543H|SLIT2_ENST00000503837.1_Missense_Mutation_p.R535H|SLIT2_ENST00000503823.1_Missense_Mutation_p.R531H	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	539					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						TTCTTCAGGCGTCTCAATAAT	0.279																																																0													45	44	44					4																	20533609		2203	4294	6497	SO:0001583	missense	9353			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"slit (Drosophila) homolog 2"	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.1616G>A	4.37:g.20533609G>A	ENSP00000422591:p.Arg539His		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.757477	0.89843	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.24538	1.85;1.85;1.85;1.85	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.35537	0.0935	N	0.20807	0.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;P	0.71870	0.975;0.9	T	0.05767	-1.0865	10	0.14252	T	0.57	.	19.8677	0.96824	0.0:0.0:1.0:0.0	.	531;539	O94813-3;O94813	.;SLIT2_HUMAN	H	531;539;543;535;535	ENSP00000427548:R531H;ENSP00000422591:R539H;ENSP00000273739:R543H;ENSP00000422261:R535H	ENSP00000273739:R543H	R	+	2	0	SLIT2	20142707	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	9.230000	0.95299	2.709000	0.92574	0.655000	0.94253	CGT		0.279	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			A	20533609	G	A	20533609	3	1	734	1	0	0	0	0	1	0	0	0	14746	1145	40	1	1682	1	SLIT2	4	20533609	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	6941580	20533609	170620667	214	41633											
CCKAR	886	broad.mit.edu;mdanderson.org;bcgsc.ca	37	4	26483646	26483646	+	Missense_Mutation	SNP	A	A	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:26483646A>C	ENST00000295589.3	-	5	1095	c.901T>G	c.(901-903)Tcc>Gcc	p.S301A		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	301					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)			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)	TTGGCTGCGGAGCTGTTACTC	0.612																																																0													103	90	95					4																	26483646		2203	4300	6503	SO:0001583	missense	886			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.901T>G	4.37:g.26483646A>C	ENSP00000295589:p.Ser301Ala		B2R9Z5	Missense_Mutation	SNP	ENST00000295589.3	37	CCDS3438.1	.	.	.	.	.	.	.	.	.	.	A	9.149	1.015752	0.19355	.	.	ENSG00000163394	ENST00000295589	T	0.39056	1.1	5.16	3.99	0.46301	GPCR, rhodopsin-like superfamily (1);	0.112402	0.64402	D	0.000006	T	0.33206	0.0855	L	0.52206	1.635	0.39202	D	0.963159	B	0.11235	0.004	B	0.22152	0.038	T	0.12066	-1.0562	10	0.08599	T	0.76	.	9.7742	0.40609	0.9156:0.0:0.0844:0.0	.	301	P32238	CCKAR_HUMAN	A	301	ENSP00000295589:S301A	ENSP00000295589:S301A	S	-	1	0	CCKAR	26092744	1.000000	0.71417	0.977000	0.42913	0.331000	0.28603	5.896000	0.69822	0.824000	0.34613	0.379000	0.24179	TCC		0.612	CCKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250418.2			C	26483646	A	C	26483646	3	2	734	1	0	0	0	0	1	0	0	0	2882	304	11	5	389	5	CCKAR	4	26483646	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	5950037	26483646	164670630	215	41634											
PTTG2	23216	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	4	37962188	37962188	+	Intron	SNP	C	C	T	rs544810432		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:37962188C>T	ENST00000261439.4	+	3	772				TBC1D1_ENST00000508802.1_Intron|PTTG2_ENST00000504686.1_Missense_Mutation_p.R45C	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						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						TTTAACACGACGTTTTGGCAA	0.463													C|||	1	0.000199681	0.0	0.0	5008	,	,		20063	0.0		0.001	False		,,,				2504	0.0															0													71	75	73					4																	37962188		2201	4300	6501	SO:0001627	intron_variant	10744			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.418-53942C>T	4.37:g.37962188C>T			B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Missense_Mutation	SNP	ENST00000261439.4	37	CCDS33972.1	.	.	.	.	.	.	.	.	.	.	C	4.225	0.040670	0.08196	.	.	ENSG00000250254	ENST00000504686	T	0.54071	0.59	1.89	-0.253	0.12996	.	.	.	.	.	T	0.31575	0.0801	N	0.17674	0.51	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.21008	-1.0258	9	0.66056	D	0.02	.	3.0078	0.06034	0.2579:0.5633:0.0:0.1789	.	45	Q9NZH5-2	.	C	45	ENSP00000424261:R45C	ENSP00000424261:R45C	R	+	1	0	PTTG2	37638583	0.012000	0.17670	0.000000	0.03702	0.000000	0.00434	-0.600000	0.05693	-0.316000	0.08690	-1.559000	0.00887	CGT		0.463	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173		T	37962188	C	T	37962188	1	4	734	0	1	0	0	0	0	0	0	0	12827	536	19	1		1	PTTG2	4	37962188	Intron	SNP	C	TCGA-KN-8428-01A-11D-2310-10	11478542	37962188	153192088	216	41635											
KIAA1211	57482	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	4	57182448	57182448	+	Missense_Mutation	SNP	G	G	A	rs200653846	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:57182448G>A	ENST00000504228.1	+	6	2885	c.2780G>A	c.(2779-2781)cGc>cAc	p.R927H	KIAA1211_ENST00000264229.6_Missense_Mutation_p.R927H|KIAA1211_ENST00000541073.1_Missense_Mutation_p.R920H			Q6ZU35	K1211_HUMAN	KIAA1211	927										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)					TCCAGCAGCCGCTCTGTTCCT	0.647													G|||	4	0.000798722	0.0	0.0014	5008	,	,		15311	0.0		0.003	False		,,,				2504	0.0															0								G	HIS/ARG	6,4112		0,6,2053	26	36	33		2780	-7.1	0	4		33	40,8350		1,38,4156	yes	missense	KIAA1211	NM_020722.1	29	1,44,6209	AA,AG,GG		0.4768,0.1457,0.3678	benign	927/1234	57182448	46,12462	2059	4195	6254	SO:0001583	missense	57482			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.2780G>A	4.37:g.57182448G>A	ENSP00000423366:p.Arg927His		Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	CCDS43230.1	11	0.005036630036630037	1	0.0020325203252032522	2	0.0055248618784530384	0	0.0	8	0.010554089709762533	G	5.871	0.344809	0.11126	0.001457	0.004768	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	T;T;T	0.11604	2.77;2.77;2.76	3.53	-7.05	0.01573	.	.	.	.	.	T	0.01800	0.0057	N	0.03608	-0.345	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	0.41770	-0.9490	9	0.15066	T	0.55	-2.4439	0.2445	0.00197	0.3509:0.2295:0.1952:0.2244	.	920;920;927	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	H	927;927;920;837	ENSP00000264229:R927H;ENSP00000423366:R927H;ENSP00000444006:R920H	ENSP00000264229:R927H	R	+	2	0	KIAA1211	56877205	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.670000	0.05256	-1.491000	0.01840	-0.502000	0.04539	CGC		0.647	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		A	57182448	G	A	57182448	3	1	734	1	0	0	0	0	1	0	0	0	8217	1087	38	1	2798	1	KIAA1211	4	57182448	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	19220260	57182448	133971828	217	41636											
KIAA1211	57482	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	4	57189672	57189672	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:57189672C>T	ENST00000504228.1	+	7	3422	c.3317C>T	c.(3316-3318)aCg>aTg	p.T1106M	KIAA1211_ENST00000264229.6_Missense_Mutation_p.T1106M|KIAA1211_ENST00000541073.1_Missense_Mutation_p.T1099M			Q6ZU35	K1211_HUMAN	KIAA1211	1106										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)					CAGCAGGCGACGCGGGAGGAG	0.507																																																0													69	82	78					4																	57189672		1960	4139	6099	SO:0001583	missense	57482			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.3317C>T	4.37:g.57189672C>T	ENSP00000423366:p.Thr1106Met		Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.125700	0.37533	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073	T;T;T	0.13538	2.59;2.59;2.58	5.5	5.5	0.81552	.	.	.	.	.	T	0.38639	0.1048	M	0.62723	1.935	0.22562	N	0.998984	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.988	T	0.13255	-1.0516	9	0.87932	D	0	-3.1528	19.4113	0.94673	0.0:1.0:0.0:0.0	.	1099;1106	F5H1N7;Q6ZU35	.;K1211_HUMAN	M	1106;1106;1099	ENSP00000264229:T1106M;ENSP00000423366:T1106M;ENSP00000444006:T1099M	ENSP00000264229:T1106M	T	+	2	0	KIAA1211	56884429	0.946000	0.32159	0.073000	0.20177	0.106000	0.19336	2.186000	0.42593	2.579000	0.87056	0.563000	0.77884	ACG		0.507	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		T	57189672	C	T	57189672	3	4	734	1	0	0	0	0	1	0	0	0	8217	536	19	1	3339	1	KIAA1211	4	57189672	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	7224	57189672	133964604	218	41637											
PPAT	5471	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	4	57267640	57267640	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:57267640G>A	ENST00000264220.2	-	7	879	c.742C>T	c.(742-744)Cgt>Tgt	p.R248C	PPAT_ENST00000507648.1_5'UTR	NM_002703.4	NP_002694.3	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase	248	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				'de novo' IMP biosynthetic process (GO:0006189)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|G1/S transition of mitotic cell cycle (GO:0000082)|glutamine catabolic process (GO:0006543)|kidney development (GO:0001822)|lactation (GO:0007595)|maternal process involved in female pregnancy (GO:0060135)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|protein homotetramerization (GO:0051289)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|amidophosphoribosyltransferase activity (GO:0004044)|metal ion binding (GO:0046872)			cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20	Glioma(25;0.08)|all_neural(26;0.101)				Fluorouracil(DB00544)|L-Glutamine(DB00130)|Mercaptopurine(DB01033)	AAGACTTCACGGTAATATCTT	0.348																																																0													402	421	415					4																	57267640		2203	4300	6503	SO:0001583	missense	5471				CCDS3505.1	4q12	2012-10-02			ENSG00000128059	ENSG00000128059	2.4.2.14		9238	protein-coding gene	gene with protein product		172450					Standard	NM_002703		Approved	GPAT, PRAT	uc003hbr.3	Q06203	OTTHUMG00000128842	ENST00000264220.2:c.742C>T	4.37:g.57267640G>A	ENSP00000264220:p.Arg248Cys			Missense_Mutation	SNP	ENST00000264220.2	37	CCDS3505.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.359676	0.61403	.	.	ENSG00000128059	ENST00000264220	T	0.78707	-1.2	5.35	5.35	0.76521	Glutamine amidotransferase, type II (1);	0.045285	0.85682	D	0.000000	D	0.84875	0.5569	M	0.92367	3.3	0.80722	D	1	B	0.22983	0.078	B	0.25987	0.065	D	0.84585	0.0663	10	0.87932	D	0	-19.2629	19.4212	0.94721	0.0:0.0:1.0:0.0	.	248	Q06203	PUR1_HUMAN	C	248	ENSP00000264220:R248C	ENSP00000264220:R248C	R	-	1	0	PPAT	56962397	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	6.145000	0.71769	2.675000	0.91044	0.650000	0.86243	CGT		0.348	PPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250781.2	NM_002703		A	57267640	G	A	57267640	3	1	734	1	0	0	0	0	1	0	0	0	12304	1116	39	1	831	1	PPAT	4	57267640	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	77968	57267640	133886636	219	41638											
SRP72	6731	mdanderson.org;bcgsc.ca	37	4	57344581	57344581	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:57344581A>G	ENST00000342756.5	+	7	1400	c.679A>G	c.(679-681)Atc>Gtc	p.I227V	SRP72_ENST00000510663.1_Intron	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	227					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)					AGAACTGGCCATCATTCATGG	0.373																																																0													58	57	57					4																	57344581		2203	4300	6503	SO:0001583	missense	6731			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.679A>G	4.37:g.57344581A>G	ENSP00000342181:p.Ile227Val		G5E9Z8|Q7Z3C0	Missense_Mutation	SNP	ENST00000342756.5	37	CCDS3506.1	.	.	.	.	.	.	.	.	.	.	A	5.002	0.185997	0.09495	.	.	ENSG00000174780	ENST00000342756;ENST00000505314	D	0.93763	-3.28	5.09	5.09	0.68999	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.049028	0.85682	D	0.000000	T	0.82176	0.4980	N	0.03050	-0.425	0.80722	D	1	B;B	0.09022	0.001;0.002	B;B	0.14023	0.006;0.01	T	0.77520	-0.2557	10	0.14252	T	0.57	.	12.8538	0.57873	1.0:0.0:0.0:0.0	.	227;227	Q86X80;O76094	.;SRP72_HUMAN	V	227;32	ENSP00000342181:I227V	ENSP00000342181:I227V	I	+	1	0	SRP72	57039338	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.095000	0.71439	1.913000	0.55393	0.528000	0.53228	ATC		0.373	SRP72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250782.7			G	57344581	A	G	57344581	3	3	734	1	0	0	0	0	1	0	0	0	15162	217	8	3	705	3	SRP72	4	57344581	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	76941	57344581	133809695	220	41639											
SHROOM3	57619	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	4	77691990	77691990	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:77691990G>A	ENST00000296043.6	+	10	6514	c.5561G>A	c.(5560-5562)cGt>cAt	p.R1854H	RP11-359D14.3_ENST00000449007.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1854	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)			CTCTCGGGGCGTCTAGCCCGT	0.517																																																0													132	132	132					4																	77691990		2203	4300	6503	SO:0001583	missense	57619			AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.5561G>A	4.37:g.77691990G>A	ENSP00000296043:p.Arg1854His		Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	G	31	5.096592	0.94197	.	.	ENSG00000138771	ENST00000296043	T	0.67171	-0.25	5.53	5.53	0.82687	Apx/shroom, ASD2 (2);	0.000000	0.64402	D	0.000001	D	0.85066	0.5612	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86671	0.1910	10	0.87932	D	0	-21.8478	19.6591	0.95857	0.0:0.0:1.0:0.0	.	1854	Q8TF72	SHRM3_HUMAN	H	1854	ENSP00000296043:R1854H	ENSP00000296043:R1854H	R	+	2	0	SHROOM3	77911014	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	9.657000	0.98554	2.879000	0.98667	0.650000	0.86243	CGT		0.517	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		A	77691990	G	A	77691990	3	1	734	1	0	0	0	0	1	0	0	0	14301	1145	40	1	5599	1	SHROOM3	4	77691990	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	20347409	77691990	113462286	221	41640											
FRAS1	80144	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	4	79236854	79236854	+	Silent	SNP	C	C	T	rs557214616		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:79236854C>T	ENST00000325942.6	+	16	2225	c.1785C>T	c.(1783-1785)ggC>ggT	p.G595G	FRAS1_ENST00000264895.6_Silent_p.G595G|FRAS1_ENST00000264899.6_Silent_p.G595G	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	595					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						AATGCCCTGGCGGGTACTATG	0.483																																																0													109	106	107					4																	79236854		1986	4165	6151	SO:0001819	synonymous_variant	80144			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.1785C>T	4.37:g.79236854C>T			A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	ENST00000325942.6	37	CCDS54772.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	0.016|0.016	-1.531790|-1.531790	0.00951|0.00951	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000502446|ENST00000508900	.|.	.|.	.|.	5.74|5.74	-5.79|-5.79	0.02354|0.02354	.|.	.|.	.|.	.|.	.|.	T|T	0.42653|0.42653	0.1212|0.1212	.|.	.|.	.|.	0.33376|0.33376	D|D	0.57422|0.57422	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.53078|0.53078	-0.8489|-0.8489	4|4	.|.	.|.	.|.	.|.	9.0288|9.0288	0.36247|0.36247	0.0886:0.2912:0.0:0.6202|0.0886:0.2912:0.0:0.6202	.|.	.|.	.|.	.|.	V|W	524|438	.|.	.|.	A|R	+|+	2|1	0|2	FRAS1|FRAS1	79455878|79455878	0.001000|0.001000	0.12720|0.12720	0.007000|0.007000	0.13788|0.13788	0.001000|0.001000	0.01503|0.01503	-0.538000|-0.538000	0.06120|0.06120	-0.754000|-0.754000	0.04715|0.04715	-2.655000|-2.655000	0.00148|0.00148	GCG|CGG		0.483	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			T	79236854	C	T	79236854	2	4	734	1	0	0	0	0	0	0	0	1	6044	755	27	1		1	FRAS1	4	79236854	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1544864	79236854	111917422	222	41641											
RASGEF1B	153020	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	4	82366931	82366931	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:82366931C>T	ENST00000264400.2	-	7	942	c.791G>A	c.(790-792)cGc>cAc	p.R264H	RASGEF1B_ENST00000509081.1_Missense_Mutation_p.R263H|RASGEF1B_ENST00000335927.7_Missense_Mutation_p.R222H	NM_152545.1	NP_689758.1	Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	264	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	endosome (GO:0005768)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						GTAGCTGAGGCGATTAAACCA	0.353																																																0													95	92	93					4																	82366931		2203	4300	6503	SO:0001583	missense	153020			AK056257	CCDS34022.1, CCDS75151.1, CCDS75152.1	4q21.21	2013-09-24				ENSG00000138670			24881	protein-coding gene	gene with protein product		614532				12488504	Standard	XM_005262776		Approved	GPIG4, FLJ31695	uc003hmi.1	Q0VAM2		ENST00000264400.2:c.791G>A	4.37:g.82366931C>T	ENSP00000264400:p.Arg264His		Q0VAM1|Q4W5L7|Q4W5M3|Q96MY8	Missense_Mutation	SNP	ENST00000264400.2	37	CCDS34022.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.622406	0.87460	.	.	ENSG00000138670	ENST00000509081;ENST00000264400;ENST00000335927;ENST00000504863	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	5.44	4.6	0.57074	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.34135	0.0887	L	0.41492	1.28	0.80722	D	1	P;P;P	0.51351	0.944;0.858;0.884	P;P;P	0.48627	0.567;0.448;0.584	T	0.14811	-1.0459	10	0.66056	D	0.02	.	14.0876	0.64968	0.0:0.9274:0.0:0.0726	.	222;263;264	Q0VAM2-2;Q0VAM2-3;Q0VAM2	.;.;RGF1B_HUMAN	H	263;264;222;109	ENSP00000425393:R263H;ENSP00000264400:R264H;ENSP00000338437:R222H;ENSP00000426929:R109H	ENSP00000264400:R264H	R	-	2	0	RASGEF1B	82585955	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.320000	0.79064	1.536000	0.49237	0.655000	0.94253	CGC		0.353	RASGEF1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362830.1	NM_152545		T	82366931	C	T	82366931	3	4	734	1	0	0	0	0	1	0	0	0	13076	768	27	1	662	1	RASGEF1B	4	82366931	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	3130077	82366931	108787345	223	41642											
SCD5	79966	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	4	83557759	83557759	+	Missense_Mutation	SNP	C	C	T	rs371261082		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:83557759C>T	ENST00000319540.4	-	4	1106	c.787G>A	c.(787-789)Gct>Act	p.A263T		NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	263					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)				GCACCCAGAGCGACGAGTGGG	0.552																																																0								C	THR/ALA	0,4406		0,0,2203	89	80	83		787	0.7	0.1	4		83	1,8599	1.2+/-3.3	0,1,4299	no	missense	SCD5	NM_001037582.2	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	263/331	83557759	1,13005	2203	4300	6503	SO:0001583	missense	79966			AF389338	CCDS3595.1, CCDS34024.1	4q21.3	2013-01-25	2005-06-09	2005-06-09	ENSG00000145284	ENSG00000145284		"Fatty acid desaturases"	21088	protein-coding gene	gene with protein product		608370	"stearoyl-CoA desaturase 4"	SCD4		12477932	Standard	NM_024906		Approved	ACOD4, FLJ21032, FADS4, HSCD5	uc003hna.2	Q86SK9	OTTHUMG00000130293	ENST00000319540.4:c.787G>A	4.37:g.83557759C>T	ENSP00000316329:p.Ala263Thr		B2RPG0|Q4W5Q5|Q8NDS0|Q9H7D1	Missense_Mutation	SNP	ENST00000319540.4	37	CCDS34024.1	.	.	.	.	.	.	.	.	.	.	C	3.842	-0.033678	0.07543	0.0	1.16E-4	ENSG00000145284	ENST00000319540	T	0.15718	2.4	5.08	0.695	0.18070	Fatty acid desaturase, type 1 (1);	0.251785	0.47455	N	0.000229	T	0.14527	0.0351	L	0.54323	1.7	0.80722	D	1	B	0.12630	0.006	B	0.15052	0.012	T	0.08351	-1.0726	10	0.31617	T	0.26	-3.3454	8.4765	0.33016	0.0:0.3574:0.0:0.6426	.	263	Q86SK9	SCD5_HUMAN	T	263	ENSP00000316329:A263T	ENSP00000316329:A263T	A	-	1	0	SCD5	83776783	0.987000	0.35691	0.102000	0.21198	0.034000	0.12701	0.707000	0.25704	0.056000	0.16144	-0.982000	0.02568	GCT		0.552	SCD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252635.1	NM_024906		T	83557759	C	T	83557759	3	4	734	1	0	0	0	0	1	0	0	0	13893	768	27	1	213	1	SCD5	4	83557759	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1190828	83557759	107596517	224	41643											
WDFY3	23001	broad.mit.edu	37	4	85758218	85758218	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:85758218A>G	ENST00000295888.4	-	7	847	c.440T>C	c.(439-441)aTg>aCg	p.M147T	WDFY3_ENST00000322366.6_Missense_Mutation_p.M147T	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	147					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)		AGGCACTGACATTGTTGTCAT	0.403																																																0													73	67	69					4																	85758218		2203	4300	6503	SO:0001583	missense	23001			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.440T>C	4.37:g.85758218A>G	ENSP00000295888:p.Met147Thr		Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	A	13.53	2.264860	0.40095	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.15834	2.39;2.39	5.76	5.76	0.90799	.	0.111475	0.85682	D	0.000000	T	0.09598	0.0236	N	0.08118	0	0.80722	D	1	B;B	0.33103	0.397;0.019	B;B	0.30782	0.12;0.008	T	0.34900	-0.9810	10	0.17832	T	0.49	.	16.0697	0.80914	1.0:0.0:0.0:0.0	.	147;147	E2QRK8;Q8IZQ1	.;WDFY3_HUMAN	T	147	ENSP00000318466:M147T;ENSP00000295888:M147T	ENSP00000295888:M147T	M	-	2	0	WDFY3	85977242	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.157000	0.94714	2.190000	0.69967	0.374000	0.22700	ATG		0.403	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		G	85758218	A	G	85758218	3	3	734	1	0	0	0	0	1	0	0	0	17275	217	8	3	10431	3	WDFY3	4	85758218	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	2200459	85758218	105396058	225	41644											
PTPN13	5783	bcgsc.ca	37	4	87728796	87728796	+	Missense_Mutation	SNP	T	T	C	rs199502086		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:87728796T>C	ENST00000411767.2	+	45	6892	c.6829T>C	c.(6829-6831)Ttc>Ctc	p.F2277L	PTPN13_ENST00000427191.2_Missense_Mutation_p.F2258L|PTPN13_ENST00000436978.1_Missense_Mutation_p.F2282L|PTPN13_ENST00000316707.6_Missense_Mutation_p.F2086L|PTPN13_ENST00000511467.1_Missense_Mutation_p.F2282L			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	2277	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				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)		GAAAGAAGAGTTCGTTTACAT	0.448																																																0													185	176	179					4																	87728796		1916	4122	6038	SO:0001583	missense	5783				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.6829T>C	4.37:g.87728796T>C	ENSP00000407249:p.Phe2277Leu		B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	T	15.66	2.900210	0.52227	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	D;D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71;-1.71	5.48	5.48	0.80851	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.48286	D	0.000187	T	0.68742	0.3034	N	0.12182	0.205	0.44477	D	0.997416	B;B;B;B	0.30914	0.11;0.162;0.3;0.255	B;B;B;B	0.28465	0.026;0.054;0.09;0.054	T	0.66956	-0.5792	10	0.16896	T	0.51	.	15.5763	0.76392	0.0:0.0:0.0:1.0	.	2086;2258;2277;2282	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	L	2258;2282;2086;2277;2282;2226	ENSP00000408368:F2258L;ENSP00000394794:F2282L;ENSP00000322675:F2086L;ENSP00000407249:F2277L;ENSP00000426626:F2282L	ENSP00000322675:F2086L	F	+	1	0	PTPN13	87947820	1.000000	0.71417	0.831000	0.32960	0.978000	0.69477	6.141000	0.71744	2.075000	0.62263	0.528000	0.53228	TTC		0.448	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			C	87728796	T	C	87728796	3	2	734	1	0	0	0	0	1	0	0	0	12788	1725	60	3	7018	3	PTPN13	4	87728796	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	1970578	87728796	103425480	226	41645											
ADH1C	126	broad.mit.edu	37	4	100268909	100268909	+	RNA	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:100268909C>T	ENST00000510055.1	-	0	287				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)	CACCTTAATGCGAACTTCATG	0.333																																																0													67	64	65					4																	100268909		2203	4300	6503			126			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.100268909C>T			Q4PJ18|Q5WRV0|Q6LBW4|Q6NWV0|Q6NZA7	RNA	SNP	ENST00000510055.1	37																																																																																					0.333	ADH1C-004	KNOWN	mRNA_end_NF|basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000365189.2	NM_000669		T	100268909	C	T	100268909	1	4	734	0	1	0	0	0	0	0	0	0	309	768	27	1		1	ADH1C	4	100268909	RNA	SNP	C	TCGA-KN-8428-01A-11D-2310-10	12540113	100268909	90885367	227	41646											
EMCN	51705	ucsc.edu;mdanderson.org	37	4	101386644	101386644	+	Silent	SNP	G	G	A	rs115243972	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:101386644G>A	ENST00000296420.4	-	4	490	c.312C>T	c.(310-312)aaC>aaT	p.N104N	EMCN_ENST00000502327.1_5'UTR|EMCN_ENST00000511970.1_Silent_p.N104N|EMCN_ENST00000305864.3_Silent_p.N104N	NM_001159694.1|NM_016242.3	NP_001153166.1|NP_057326.2	Q9ULC0	MUCEN_HUMAN	endomucin	104	Thr-rich.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.49e-08)		TTACTGTTACGTTTGAAATGA	0.368													G|||	25	0.00499201	0.0166	0.0029	5008	,	,		18716	0.0		0.0	False		,,,				2504	0.001															0								G	,	101,4305	80.9+/-119.3	2,97,2104	191	168	176		312,312	-7.9	0	4	dbSNP_132	176	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	EMCN	NM_001159694.1,NM_016242.3	,	2,99,6402	AA,AG,GG		0.0233,2.2923,0.7919	,	104/249,104/262	101386644	103,12903	2203	4300	6503	SO:0001819	synonymous_variant	51705			AF205940	CCDS3655.1, CCDS54782.1	4q22.1	2008-02-05			ENSG00000164035	ENSG00000164035		"Mucins"	16041	protein-coding gene	gene with protein product		608350				11418125, 11594763	Standard	NM_016242		Approved	MUC14	uc003hvr.3	Q9ULC0	OTTHUMG00000131051	ENST00000296420.4:c.312C>T	4.37:g.101386644G>A			A8K716|B4E347|Q8NEY5|Q8WWE7|Q9NRM8	Silent	SNP	ENST00000296420.4	37	CCDS3655.1																																																																																				0.368	EMCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253699.2	NM_016242		A	101386644	G	A	101386644	2	1	734	1	0	0	0	0	0	0	0	1	5088	1136	40	1		1	EMCN	4	101386644	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1117735	101386644	89767632	228	41647											
SYNPO2	171024	hgsc.bcm.edu;ucsc.edu	37	4	119951253	119951253	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:119951253C>T	ENST00000429713.2	+	4	1505	c.1323C>T	c.(1321-1323)agC>agT	p.S441S	SYNPO2_ENST00000307142.4_Silent_p.S441S|SYNPO2_ENST00000434046.2_Silent_p.S441S|SYNPO2_ENST00000448416.2_Intron	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	441						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						TTGGTGCAAGCGAATCAGAGG	0.483																																																0													194	187	189					4																	119951253		2203	4300	6503	SO:0001819	synonymous_variant	171024			AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.1323C>T	4.37:g.119951253C>T			B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Silent	SNP	ENST00000429713.2	37	CCDS47129.1	.	.	.	.	.	.	.	.	.	.	C	1.222	-0.626610	0.03610	.	.	ENSG00000172403	ENST00000504178	.	.	.	5.69	-1.15	0.09709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-20.3512	12.9267	0.58264	0.0:0.3209:0.0:0.6791	.	.	.	.	X	393	.	.	R	+	1	2	SYNPO2	120170701	0.011000	0.17503	0.197000	0.23402	0.042000	0.13812	-0.893000	0.04127	-0.674000	0.05253	-0.244000	0.11960	CGA		0.483	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364020.1			T	119951253	C	T	119951253	2	4	734	1	0	0	0	0	0	0	0	1	15462	767	27	1		1	SYNPO2	4	119951253	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	18564609	119951253	71203023	229	41648											
FAT4	79633	broad.mit.edu	37	4	126389786	126389786	+	Missense_Mutation	SNP	A	A	G	rs183593425		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:126389786A>G	ENST00000394329.3	+	11	12032	c.12019A>G	c.(12019-12021)Agt>Ggt	p.S4007G	FAT4_ENST00000335110.5_Missense_Mutation_p.S2270G	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4007	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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						CACGATTAAAAGTCATGCCTT	0.388													A|||	1	0.000199681	0.0	0.0	5008	,	,		15216	0.001		0.0	False		,,,				2504	0.0															0													78	77	77					4																	126389786		2203	4300	6503	SO:0001583	missense	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.12019A>G	4.37:g.126389786A>G	ENSP00000377862:p.Ser4007Gly		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	A	15.46	2.840879	0.51057	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.78707	-1.2;-1.2	5.13	5.13	0.70059	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.176916	0.26262	U	0.025385	T	0.78181	0.4243	L	0.51914	1.62	0.37495	D	0.916531	B;B;B	0.29835	0.135;0.258;0.218	B;B;B	0.39738	0.082;0.308;0.082	T	0.80899	-0.1176	10	0.56958	D	0.05	.	15.0081	0.71527	1.0:0.0:0.0:0.0	.	2270;4007;4007	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	G	4007;2270	ENSP00000377862:S4007G;ENSP00000335169:S2270G	ENSP00000335169:S2270G	S	+	1	0	FAT4	126609236	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	3.922000	0.56462	1.943000	0.56356	0.473000	0.43528	AGT		0.388	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		G	126389786	A	G	126389786	3	3	734	1	0	0	0	0	1	0	0	0	5694	72	3	3	12061	3	FAT4	4	126389786	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	6438533	126389786	64764490	230	41649											
UCP1	7350	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	4	141481158	141481158	+	Silent	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:141481158T>C	ENST00000262999.3	-	6	891	c.816A>G	c.(814-816)gtA>gtG	p.V272V		NM_021833.4	NP_068605.1	P25874	UCP1_HUMAN	uncoupling protein 1 (mitochondrial, proton carrier)	272					brown fat cell differentiation (GO:0050873)|cellular metabolic process (GO:0044237)|mitochondrial transport (GO:0006839)|proton transport (GO:0015992)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	oxidative phosphorylation uncoupler activity (GO:0017077)			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|stomach(1)	16	all_hematologic(180;0.162)					AGAAGGAAGGTACCAACCTAG	0.413																																																0													161	125	137					4																	141481158		2203	4300	6503	SO:0001819	synonymous_variant	7350			X51955	CCDS3753.1	4q28-q31	2013-05-22			ENSG00000109424	ENSG00000109424		"Solute carriers"	12517	protein-coding gene	gene with protein product		113730		UCP		2380264	Standard	NM_021833		Approved	SLC25A7	uc011chj.2	P25874	OTTHUMG00000133415	ENST00000262999.3:c.816A>G	4.37:g.141481158T>C			Q13218|Q4KMZ3|Q68G66	Silent	SNP	ENST00000262999.3	37	CCDS3753.1																																																																																				0.413	UCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257273.1			C	141481158	T	C	141481158	2	2	734	1	0	0	0	0	0	0	0	1	16935	1625	57	3		3	UCP1	4	141481158	Silent	SNP	T	TCGA-KN-8428-01A-11D-2310-10	15091372	141481158	49673118	231	41650											
DCHS2	54798	broad.mit.edu	37	4	155163876	155163876	+	Silent	SNP	C	C	T	rs558078073		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:155163876C>T	ENST00000357232.4	-	22	5624	c.5625G>A	c.(5623-5625)acG>acA	p.T1875T		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1875	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)		TGATTACAGTCGTATTAGAAA	0.408																																																0													132	123	126					4																	155163876		2203	4300	6503	SO:0001819	synonymous_variant	54798			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.5625G>A	4.37:g.155163876C>T			B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	CCDS3785.1																																																																																				0.408	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		T	155163876	C	T	155163876	2	4	734	1	0	0	0	0	0	0	0	1	4290	871	31	1		1	DCHS2	4	155163876	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	13682718	155163876	35990400	232	41651											
DCHS2	54798	broad.mit.edu;ucsc.edu;mdanderson.org	37	4	155254036	155254036	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:155254036C>T	ENST00000357232.4	-	9	1826	c.1827G>A	c.(1825-1827)gcG>gcA	p.A609A	DCHS2_ENST00000339452.1_Silent_p.A1108A|DCHS2_ENST00000507542.1_5'Flank	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	609	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CAAGTGGGTGCGCCTGTGTTT	0.552																																																0													67	66	66					4																	155254036		2203	4300	6503	SO:0001819	synonymous_variant	54798			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.1827G>A	4.37:g.155254036C>T			B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	CCDS3785.1																																																																																				0.552	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		T	155254036	C	T	155254036	2	4	734	1	0	0	0	0	0	0	0	1	4290	755	27	1		1	DCHS2	4	155254036	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	90160	155254036	35900240	233	41652											
DCHS2	54798	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	4	155254288	155254288	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:155254288G>A	ENST00000357232.4	-	9	1574	c.1575C>T	c.(1573-1575)ggC>ggT	p.G525G	DCHS2_ENST00000339452.1_Silent_p.G1024G|DCHS2_ENST00000507542.1_5'UTR	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	525	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|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)		TGGCAAAGACGCCTGGCTGCG	0.682																																																0													28	31	30					4																	155254288		2203	4300	6503	SO:0001819	synonymous_variant	54798			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.1575C>T	4.37:g.155254288G>A			B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	CCDS3785.1																																																																																				0.682	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		A	155254288	G	A	155254288	2	1	734	1	0	0	0	0	0	0	0	1	4290	1074	38	1		1	DCHS2	4	155254288	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	252	155254288	35899988	234	41653											
FGB	2244	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	4	155487066	155487066	+	Missense_Mutation	SNP	G	G	A	rs571624045		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:155487066G>A	ENST00000302068.4	+	2	284	c.221G>A	c.(220-222)cGt>cAt	p.R74H	FGB_ENST00000509493.1_Intron|FGB_ENST00000502545.1_3'UTR	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	74			Missing (in New York-1). {ECO:0000269|PubMed:3156856}.|R -> C (in Nijmegen). {ECO:0000269|PubMed:1565641}.		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)	TATCGGGCTCGTCCAGCCAAA	0.587													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14457	0.0		0.0	False		,,,				2504	0.0				NSCLC(106;1133 1613 21870 46110 52656)											0													33	36	35					4																	155487066		2202	4298	6500	SO:0001583	missense	2244				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.221G>A	4.37:g.155487066G>A	ENSP00000306099:p.Arg74His		A0JLR9|B2R7G3|Q32Q65|Q3KPF2	Missense_Mutation	SNP	ENST00000302068.4	37	CCDS3786.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.420758	0.83559	.	.	ENSG00000171564	ENST00000302068;ENST00000537843	T	0.69561	-0.41	5.21	5.21	0.72293	.	0.048577	0.85682	D	0.000000	T	0.80839	0.4700	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.68621	0.959	T	0.82608	-0.0373	10	0.87932	D	0	.	19.1257	0.93382	0.0:0.0:1.0:0.0	.	74	P02675	FIBB_HUMAN	H	74;57	ENSP00000306099:R74H	ENSP00000306099:R74H	R	+	2	0	FGB	155706516	1.000000	0.71417	0.998000	0.56505	0.596000	0.36781	6.249000	0.72427	2.597000	0.87782	0.591000	0.81541	CGT		0.587	FGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317595.1	NM_005141		A	155487066	G	A	155487066	3	1	734	1	0	0	0	0	1	0	0	0	5833	1145	40	1	227	1	FGB	4	155487066	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	232778	155487066	35667210	235	41654											
FGB	2244	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	4	155487081	155487081	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:155487081C>T	ENST00000302068.4	+	2	299	c.236C>T	c.(235-237)gCt>gTt	p.A79V	FGB_ENST00000509493.1_Intron|FGB_ENST00000502545.1_3'UTR	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	79			Missing (in New York-1). {ECO:0000269|PubMed:3156856}.		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)	GCCAAAGCAGCTGCCACTCAA	0.577																																					NSCLC(106;1133 1613 21870 46110 52656)											0													37	39	38					4																	155487081		2198	4292	6490	SO:0001583	missense	2244				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.236C>T	4.37:g.155487081C>T	ENSP00000306099:p.Ala79Val		A0JLR9|B2R7G3|Q32Q65|Q3KPF2	Missense_Mutation	SNP	ENST00000302068.4	37	CCDS3786.1	.	.	.	.	.	.	.	.	.	.	C	3.374	-0.127748	0.06753	.	.	ENSG00000171564	ENST00000302068;ENST00000537843	T	0.60171	0.21	5.21	-3.56	0.04626	.	1.841320	0.02642	N	0.105473	T	0.36963	0.0986	N	0.16478	0.41	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.08806	-1.0704	10	0.23891	T	0.37	.	4.9716	0.14119	0.396:0.2565:0.0:0.3475	.	79	P02675	FIBB_HUMAN	V	79;62	ENSP00000306099:A79V	ENSP00000306099:A79V	A	+	2	0	FGB	155706531	0.000000	0.05858	0.000000	0.03702	0.087000	0.18053	-2.289000	0.01149	-1.135000	0.02895	-0.230000	0.12252	GCT		0.577	FGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317595.1	NM_005141		T	155487081	C	T	155487081	3	4	734	1	0	0	0	0	1	0	0	0	5833	797	28	2	242	2	FGB	4	155487081	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	15	155487081	35667195	236	41655											
FAM198B	51313	broad.mit.edu;ucsc.edu;mdanderson.org	37	4	159076877	159076877	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:159076877C>T	ENST00000296530.8	-	3	1632	c.1011G>A	c.(1009-1011)caG>caA	p.Q337Q	FAM198B_ENST00000585682.1_Silent_p.Q337Q|FAM198B_ENST00000393807.5_Silent_p.Q345Q|FAM198B_ENST00000589306.1_5'UTR	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	337						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						GTTTCAGCAACTGCTGATAAG	0.473																																																0													106	92	96					4																	159076877		2203	4299	6502	SO:0001819	synonymous_variant	51313				CCDS3798.1, CCDS34087.1	4q32.1	2012-11-29	2009-10-19	2009-10-19	ENSG00000164125	ENSG00000164125			25312	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 18"	C4orf18		12975309	Standard	NM_001031700		Approved	FLJ38155, DKFZp434L142	uc003ipr.4	Q6UWH4	OTTHUMG00000161537	ENST00000296530.8:c.1011G>A	4.37:g.159076877C>T			Q498Z3|Q6IAF9|Q6ZMF2|Q86XL0	Silent	SNP	ENST00000296530.8	37	CCDS3798.1																																																																																				0.473	FAM198B-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365230.1	NM_001031700, NM_016613		T	159076877	C	T	159076877	2	4	734	1	0	0	0	0	0	0	0	1	5531	564	20	2		2	FAM198B	4	159076877	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	3589796	159076877	32077399	237	41656											
GALNT7	51809	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	4	174169387	174169387	+	Missense_Mutation	SNP	G	G	A	rs201773910	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:174169387G>A	ENST00000265000.4	+	2	466	c.383G>A	c.(382-384)cGc>cAc	p.R128H	GALNT7_ENST00000512285.1_Missense_Mutation_p.R128H	NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	polypeptide N-acetylgalactosaminyltransferase 7	128					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 (GO:0006493)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		CCTGTGCTTCGCCCAGGGATC	0.512													G|||	2	0.000399361	0.0008	0.0	5008	,	,		18950	0.0		0.0	False		,,,				2504	0.001															0													83	82	83					4																	174169387		2203	4300	6503	SO:0001583	missense	51809			AJ002744	CCDS3815.1	4q31.1	2014-03-13	2014-03-13		ENSG00000109586	ENSG00000109586		"Glycosyltransferase family 2 domain containing"	4129	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 7"	605005	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)"			10544240	Standard	NM_017423		Approved	GALNAC-T7	uc003isz.4	Q86SF2	OTTHUMG00000160817	ENST00000265000.4:c.383G>A	4.37:g.174169387G>A	ENSP00000265000:p.Arg128His		B3KQU3|Q7Z5W7|Q9UJ28	Missense_Mutation	SNP	ENST00000265000.4	37	CCDS3815.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	11.60	1.687301	0.29962	.	.	ENSG00000109586	ENST00000265000;ENST00000512285	T;T	0.57107	0.42;1.46	5.93	4.21	0.49690	.	0.898146	0.09841	N	0.748891	T	0.49795	0.1578	L	0.52573	1.65	0.48632	D	0.999687	B	0.11235	0.004	B	0.04013	0.001	T	0.45848	-0.9233	10	0.72032	D	0.01	.	12.1843	0.54229	0.1364:0.0:0.8636:0.0	.	128	Q86SF2	GALT7_HUMAN	H	128	ENSP00000265000:R128H;ENSP00000427050:R128H	ENSP00000265000:R128H	R	+	2	0	GALNT7	174405962	1.000000	0.71417	1.000000	0.80357	0.055000	0.15305	3.260000	0.51523	1.533000	0.49186	-0.140000	0.14226	CGC		0.512	GALNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362456.2	NM_017423		A	174169387	G	A	174169387	3	1	734	1	0	0	0	0	1	0	0	0	6220	1087	38	1	389	1	GALNT7	4	174169387	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	15092510	174169387	16984889	238	41657											
HMGB2	3148	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	4	174254650	174254650	+	Splice_Site	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:174254650C>T	ENST00000296503.5	-	2	1024		c.e2+1		HMGB2_ENST00000438704.2_Splice_Site|HMGB2_ENST00000446922.2_Splice_Site			P26583	HMGB2_HUMAN	high mobility group box 2						apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cell chemotaxis (GO:0060326)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to lipopolysaccharide (GO:0071222)|chromatin organization (GO:0006325)|DNA ligation involved in DNA repair (GO:0051103)|DNA topological change (GO:0006265)|male gonad development (GO:0008584)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive chemotaxis (GO:0050918)|positive regulation of DNA binding (GO:0043388)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of nuclease activity (GO:0032075)|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)|response to steroid hormone (GO:0048545)|spermatid nucleus differentiation (GO:0007289)|V(D)J recombination (GO:0033151)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	chemoattractant activity (GO:0042056)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		TCCTGCCTCACCTTCCATCTC	0.552																																																0													95	96	95					4																	174254650		2203	4300	6503	SO:0001630	splice_region_variant	3148				CCDS3816.1	4q31	2011-07-01	2011-04-05	2002-08-16	ENSG00000164104	ENSG00000164104		"High-mobility group / Canonical"	5000	protein-coding gene	gene with protein product		163906	"high-mobility group (nonhistone chromosomal) protein 2", "high-mobility group box 2"	HMG2		1754403	Standard	NM_002129		Approved		uc011ckc.1	P26583	OTTHUMG00000160799	ENST00000296503.5:c.150+1G>A	4.37:g.174254650C>T			B2R4K8|D3DP37|Q5U072	Splice_Site	SNP	ENST00000296503.5	37	CCDS3816.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.027733	0.54790	.	.	ENSG00000164104	ENST00000296503;ENST00000446922;ENST00000438704;ENST00000506267	.	.	.	4.25	4.25	0.50352	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.232	0.82352	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HMGB2	174491225	1.000000	0.71417	1.000000	0.80357	0.372000	0.29890	7.456000	0.80751	1.907000	0.55213	0.313000	0.20887	.		0.552	HMGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362362.1	NM_001130688	Intron	T	174254650	C	T	174254650	5	4	734	1	0	0	0	0	0	0	1	0	7228	521	18	2	494	2	HMGB2	4	174254650	Splice_Site	SNP	C	TCGA-KN-8428-01A-11D-2310-10	85263	174254650	16899626	239	41658											
SNX25	83891	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	4	186185677	186185677	+	Missense_Mutation	SNP	C	C	T	rs140041413	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:186185677C>T	ENST00000504273.1	+	4	619	c.325C>T	c.(325-327)Cgg>Tgg	p.R109W	SNX25_ENST00000264694.8_Missense_Mutation_p.R109W			Q9H3E2	SNX25_HUMAN	sorting nexin 25	109	PXA. {ECO:0000255|PROSITE- ProRule:PRU00147, ECO:0000255|PROSITE- ProRule:PRU00553}.				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)		AACGTGTTCTCGGGTTCTGGT	0.413																																																0								C	TRP/ARG	0,4406		0,0,2203	175	162	166		325	4.2	1	4	dbSNP_134	166	3,8591	3.0+/-9.4	0,3,4294	no	missense	SNX25	NM_031953.2	101	0,3,6497	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	109/841	186185677	3,12997	2203	4297	6500	SO:0001583	missense	83891			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.325C>T	4.37:g.186185677C>T	ENSP00000426255:p.Arg109Trp		Q3ZT30|Q8N6K3	Missense_Mutation	SNP	ENST00000504273.1	37	CCDS34116.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.169225	0.78339	0.0	3.49E-4	ENSG00000109762	ENST00000504273;ENST00000264694	T;T	0.10763	2.84;2.84	5.04	4.17	0.49024	Phox-associated domain (2);	0.213930	0.38897	N	0.001529	T	0.17577	0.0422	L	0.36672	1.1	0.35902	D	0.830485	D	0.65815	0.995	P	0.54210	0.745	T	0.14227	-1.0480	10	0.87932	D	0	-4.6564	14.7072	0.69200	0.1461:0.8539:0.0:0.0	.	109	Q9H3E2	SNX25_HUMAN	W	109	ENSP00000426255:R109W;ENSP00000264694:R109W	ENSP00000264694:R109W	R	+	1	2	SNX25	186422671	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	3.564000	0.53791	1.306000	0.44926	0.491000	0.48974	CGG		0.413	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360756.1	NM_031953		T	186185677	C	T	186185677	3	4	734	1	0	0	0	0	1	0	0	0	14902	875	31	1	335	1	SNX25	4	186185677	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	11931027	186185677	4968599	240	41659											
F11	2160	broad.mit.edu;mdanderson.org;bcgsc.ca	37	4	187209727	187209727	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:187209727G>A	ENST00000403665.2	+	15	2189	c.1837G>A	c.(1837-1839)Gag>Aag	p.E613K	F11_ENST00000264692.4_Missense_Mutation_p.E561K|F11-AS1_ENST00000505103.1_RNA	NM_000128.3	NP_000119.1	P03951	FA11_HUMAN	coagulation factor XI	613	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	CAACGTGGTCGAGTACGTGGA	0.567																																																0													120	116	117					4																	187209727		2203	4300	6503	SO:0001583	missense	2160			M13142	CCDS3847.1	4q35	2008-08-01	2008-08-01		ENSG00000088926	ENSG00000088926	3.4.21.27		3529	protein-coding gene	gene with protein product	"plasma thromboplastin antecedent"	264900					Standard	NM_000128		Approved	FXI	uc003iza.1	P03951	OTTHUMG00000150311	ENST00000403665.2:c.1837G>A	4.37:g.187209727G>A	ENSP00000384957:p.Glu613Lys		D3DP64|Q4W5C2|Q9Y495	Missense_Mutation	SNP	ENST00000403665.2	37	CCDS3847.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.629525	0.46944	.	.	ENSG00000088926	ENST00000403665;ENST00000264692	D;D	0.88201	-2.35;-2.35	5.49	2.56	0.30785	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.144296	0.47455	N	0.000230	T	0.64702	0.2622	N	0.00788	-1.185	0.30559	N	0.764699	B	0.23377	0.084	B	0.17098	0.017	T	0.59611	-0.7422	10	0.17369	T	0.5	.	7.4289	0.27115	0.3207:0.0:0.6793:0.0	.	613	P03951	FA11_HUMAN	K	613;561	ENSP00000384957:E613K;ENSP00000264692:E561K	ENSP00000264692:E561K	E	+	1	0	F11	187446721	0.220000	0.23631	0.395000	0.26283	0.974000	0.67602	0.649000	0.24843	0.262000	0.21774	0.555000	0.69702	GAG		0.567	F11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317519.4			A	187209727	G	A	187209727	3	1	734	1	0	0	0	0	1	0	0	0	5339	1059	37	1	1891	1	F11	4	187209727	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1024050	187209727	3944549	241	41660											
FAT1	2195	broad.mit.edu;ucsc.edu;mdanderson.org	37	4	187629557	187629557	+	Silent	SNP	G	G	A	rs202036099		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:187629557G>A	ENST00000441802.2	-	2	1634	c.1425C>T	c.(1423-1425)aaC>aaT	p.N475N		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	475	Cadherin 4. {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						CAATGGGCACGTTCTCATCAA	0.473										HNSCC(5;0.00058)			g|||	1	0.000199681	0.0	0.0014	5008	,	,		20713	0.0		0.0	False		,,,				2504	0.0				Colon(197;1040 2055 4143 4984 49344)											0													160	155	157					4																	187629557		2024	4187	6211	SO:0001819	synonymous_variant	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.1425C>T	4.37:g.187629557G>A				Silent	SNP	ENST00000441802.2	37	CCDS47177.1																																																																																				0.473	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		A	187629557	G	A	187629557	2	1	734	1	0	0	0	0	0	0	0	1	5691	1136	40	1		1	FAT1	4	187629557	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	419830	187629557	3524719	242	41661											
FRG1	2483	mdanderson.org	37	4	190876227	190876227	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:190876227G>A	ENST00000226798.4	+	5	575	c.353G>A	c.(352-354)gGt>gAt	p.G118D	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	118					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)		AAATATCTTGGTATAAATTCA	0.343																																																0													63	63	63					4																	190876227		2203	4300	6503	SO:0001583	missense	2483			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.353G>A	4.37:g.190876227G>A	ENSP00000226798:p.Gly118Asp		A8K775	Missense_Mutation	SNP	ENST00000226798.4	37	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	23.7	4.443643	0.83993	.	.	ENSG00000109536	ENST00000226798;ENST00000531991	T;T	0.50548	1.91;0.74	4.04	4.04	0.47022	Actin cross-linking (1);	0.000000	0.85682	D	0.000000	T	0.70684	0.3252	M	0.84433	2.695	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	T	0.77016	-0.2744	10	0.72032	D	0.01	-10.9283	14.145	0.65344	0.0:0.0:1.0:0.0	.	118	Q14331	FRG1_HUMAN	D	118;55	ENSP00000226798:G118D;ENSP00000435943:G55D	ENSP00000226798:G118D	G	+	2	0	FRG1	191113221	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.218000	0.95166	1.964000	0.57103	0.567000	0.79289	GGT		0.343	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		A	190876227	G	A	190876227	3	1	734	1	0	0	0	0	1	0	0	0	6048	1261	44	2	371	2	FRG1	4	190876227	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	3246670	190876227	278049	243	41662											
C5orf55	116349	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	5	442635	442635	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:442635C>T	ENST00000408966.2	-	1	623	c.303G>A	c.(301-303)gcG>gcA	p.A101A	EXOC3_ENST00000512944.1_5'Flank	NM_138464.2	NP_612473.1	Q8N2X6	CE055_HUMAN	chromosome 5 open reading frame 55	101						extracellular region (GO:0005576)				large_intestine(1)|lung(2)	3						CCAAGACCTGCGCTGCTGGGC	0.657																																																0													50	55	53					5																	442635		1883	4111	5994	SO:0001819	synonymous_variant	116349			BC014011	CCDS43298.1	5p15.33	2012-02-24			ENSG00000221990	ENSG00000221990			25175	protein-coding gene	gene with protein product						12477932	Standard	NM_138464		Approved		uc010ita.3	Q8N2X6	OTTHUMG00000162235	ENST00000408966.2:c.303G>A	5.37:g.442635C>T			Q96CR9	Silent	SNP	ENST00000408966.2	37	CCDS43298.1																																																																																				0.657	C5orf55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368033.1	NM_138464		T	442635	C	T	442635	2	4	734	1	0	0	0	0	0	0	0	1	2313	755	27	1		1	C5orf55	5	442635	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10		442635	180472625	244	41663											
TERT	7015	broad.mit.edu	37	5	1293799	1293799	+	Missense_Mutation	SNP	G	G	A	rs539667998		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:1293799G>A	ENST00000310581.5	-	2	1259	c.1202C>T	c.(1201-1203)gCg>gTg	p.A401V	TERT_ENST00000522877.1_5'Flank|TERT_ENST00000296820.5_Missense_Mutation_p.A401V|TERT_ENST00000334602.6_Missense_Mutation_p.A401V|TERT_ENST00000508104.2_Missense_Mutation_p.A401V	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	401	CP motif.|QFP motif.|RNA-interacting domain 2.|Required for oligomerization.				DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	GGGGCACTGCGCGTGGTTCCC	0.697									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				G|||	1	0.000199681	0.0	0.0	5008	,	,		15406	0.001		0.0	False		,,,				2504	0.0															0													12	14	13					5																	1293799		2165	4273	6438	SO:0001583	missense	7015	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.1202C>T	5.37:g.1293799G>A	ENSP00000309572:p.Ala401Val		O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Missense_Mutation	SNP	ENST00000310581.5	37	CCDS3861.2	.	.	.	.	.	.	.	.	.	.	G	14.48	2.547628	0.45383	.	.	ENSG00000164362	ENST00000310581;ENST00000296820;ENST00000334602;ENST00000508104	D;D;D;D	0.96885	-4.16;-4.13;-4.07;-4.13	4.38	1.41	0.22369	.	0.457119	0.24980	N	0.034069	D	0.95655	0.8587	M	0.71581	2.175	0.09310	N	1	B;D;B	0.76494	0.213;0.999;0.136	B;P;B	0.59012	0.034;0.85;0.015	D	0.88240	0.2909	10	0.30854	T	0.27	-30.7517	1.6145	0.02701	0.1842:0.2005:0.4091:0.2062	.	401;401;401	O14746-3;O14746;Q8NG38	.;TERT_HUMAN;.	V	401	ENSP00000309572:A401V;ENSP00000296820:A401V;ENSP00000334346:A401V;ENSP00000426042:A401V	ENSP00000296820:A401V	A	-	2	0	TERT	1346799	0.000000	0.05858	0.506000	0.27664	0.801000	0.45260	0.165000	0.16564	0.305000	0.22832	0.549000	0.68633	GCG		0.697	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2			A	1293799	G	A	1293799	3	1	734	1	0	0	0	0	1	0	0	0	15769	1087	38	1	2256	1	TERT	5	1293799	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	851164	1293799	179621461	245	41664											
ADAMTS16	170690	broad.mit.edu;mdanderson.org;bcgsc.ca	37	5	5239898	5239898	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:5239898T>C	ENST00000274181.7	+	16	2521	c.2383T>C	c.(2383-2385)Tac>Cac	p.Y795H		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	795	Spacer.				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						CCTCAGAAGGTACTACCTGAA	0.512																																																0													118	112	114					5																	5239898		1895	4112	6007	SO:0001583	missense	170690			AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"ADAM metallopeptidases with thrombospondin type 1 motif"	17108	protein-coding gene	gene with protein product		607510	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2383T>C	5.37:g.5239898T>C	ENSP00000274181:p.Tyr795His		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	T	19.96	3.924234	0.73213	.	.	ENSG00000145536	ENST00000274181;ENST00000536857	T	0.57107	0.42	5.56	5.56	0.83823	ADAM-TS Spacer 1 (1);	0.000000	0.64402	D	0.000001	T	0.77356	0.4118	M	0.90595	3.13	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.983	T	0.82293	-0.0529	10	0.66056	D	0.02	.	14.6848	0.69042	0.0:0.0:0.0:1.0	.	795;795	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	H	795	ENSP00000274181:Y795H	ENSP00000274181:Y795H	Y	+	1	0	ADAMTS16	5292898	1.000000	0.71417	0.910000	0.35882	0.429000	0.31625	7.310000	0.78947	2.113000	0.64589	0.533000	0.62120	TAC		0.512	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		C	5239898	T	C	5239898	3	2	734	1	0	0	0	0	1	0	0	0	261	1638	57	3	2445	3	ADAMTS16	5	5239898	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	3946099	5239898	175675362	246	41665											
RAI14	26064	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	5	34821933	34821933	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:34821933A>G	ENST00000265109.3	+	14	1378	c.1091A>G	c.(1090-1092)aAg>aGg	p.K364R	RAI14_ENST00000503673.1_Missense_Mutation_p.K364R|RAI14_ENST00000512629.1_Missense_Mutation_p.K335R|RAI14_ENST00000515799.1_Missense_Mutation_p.K367R|RAI14_ENST00000506376.1_Missense_Mutation_p.K356R|RAI14_ENST00000397449.1_Missense_Mutation_p.K357R|RAI14_ENST00000428746.2_Missense_Mutation_p.K364R	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	364						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					TTACACAATAAGGAGTTACAA	0.358																																																0													85	83	84					5																	34821933		2203	4299	6502	SO:0001583	missense	26064			AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"Ankyrin repeat domain containing"	14873	protein-coding gene	gene with protein product	"novel retinal pigment epithelial"	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.1091A>G	5.37:g.34821933A>G	ENSP00000265109:p.Lys364Arg		E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Missense_Mutation	SNP	ENST00000265109.3	37	CCDS34142.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.351867	0.82132	.	.	ENSG00000039560	ENST00000265109;ENST00000512629;ENST00000428746;ENST00000503673;ENST00000515799;ENST00000506376;ENST00000397449	T;T;T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16;1.2;1.19	5.81	5.81	0.92471	.	.	.	.	.	T	0.50599	0.1625	L	0.34521	1.04	0.45194	D	0.998203	D;D;D;D	0.89917	0.998;0.997;1.0;0.997	D;D;D;D	0.87578	0.994;0.985;0.998;0.985	T	0.51387	-0.8712	9	0.59425	D	0.04	-25.6914	16.1677	0.81782	1.0:0.0:0.0:0.0	.	356;335;367;364	Q9P0K7-3;E9PED3;Q9P0K7-2;Q9P0K7	.;.;.;RAI14_HUMAN	R	364;335;364;364;367;356;357	ENSP00000265109:K364R;ENSP00000422377:K335R;ENSP00000388725:K364R;ENSP00000422942:K364R;ENSP00000427123:K367R;ENSP00000423854:K356R;ENSP00000380591:K357R	ENSP00000265109:K364R	K	+	2	0	RAI14	34857690	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.881000	0.75584	2.218000	0.71995	0.528000	0.53228	AAG		0.358	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577		G	34821933	A	G	34821933	3	3	734	1	0	0	0	0	1	0	0	0	13014	72	3	3	1206	3	RAI14	5	34821933	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	29582035	34821933	146093327	247	41666											
NIPBL	25836	broad.mit.edu;mdanderson.org;bcgsc.ca	37	5	37000622	37000622	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:37000622C>T	ENST00000282516.8	+	12	3951	c.3452C>T	c.(3451-3453)cCg>cTg	p.P1151L	NIPBL_ENST00000448238.2_Missense_Mutation_p.P1151L	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1151					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)			AACCGAAGTCCGTCAGATTCT	0.448																																																0													162	155	157					5																	37000622		2203	4300	6503	SO:0001583	missense	25836			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"sister chromatid cohesion 2 homolog (yeast)"	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.3452C>T	5.37:g.37000622C>T	ENSP00000282516:p.Pro1151Leu		Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.271463	0.80469	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.93488	-3.23;-3.23	5.81	5.81	0.92471	.	0.093959	0.47852	D	0.000220	D	0.88306	0.6401	N	0.24115	0.695	0.58432	D	0.999997	P;P	0.43287	0.524;0.802	B;B	0.34180	0.043;0.177	D	0.89300	0.3625	10	0.59425	D	0.04	.	20.0749	0.97738	0.0:1.0:0.0:0.0	.	1151;1151	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	L	1151	ENSP00000282516:P1151L;ENSP00000406266:P1151L	ENSP00000282516:P1151L	P	+	2	0	NIPBL	37036379	0.999000	0.42202	0.992000	0.48379	0.957000	0.61999	4.629000	0.61290	2.759000	0.94783	0.591000	0.81541	CCG		0.448	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		T	37000622	C	T	37000622	3	4	734	1	0	0	0	0	1	0	0	0	10430	652	23	1	3494	1	NIPBL	5	37000622	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	2178689	37000622	143914638	248	41667											
NIPBL	25836	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	5	37036493	37036493	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:37036493G>A	ENST00000282516.8	+	33	6374	c.5875G>A	c.(5875-5877)Gaa>Aaa	p.E1959K	NIPBL_ENST00000448238.2_Missense_Mutation_p.E1959K	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1959					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)			GTTGAAGTCCGAAGAGGATTC	0.279																																																0													17	16	16					5																	37036493		2166	4195	6361	SO:0001583	missense	25836			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"sister chromatid cohesion 2 homolog (yeast)"	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.5875G>A	5.37:g.37036493G>A	ENSP00000282516:p.Glu1959Lys		Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.629682	0.67015	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	T;T	0.64260	-0.09;-0.09	5.58	5.58	0.84498	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.40448	0.1117	N	0.03930	-0.32	0.80722	D	1	B;B	0.27416	0.112;0.178	B;B	0.32211	0.046;0.142	T	0.43702	-0.9375	10	0.02654	T	1	-16.5384	19.5724	0.95427	0.0:0.0:1.0:0.0	.	1959;1959	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	K	1959	ENSP00000282516:E1959K;ENSP00000406266:E1959K	ENSP00000282516:E1959K	E	+	1	0	NIPBL	37072250	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	9.438000	0.97539	2.624000	0.88883	0.650000	0.86243	GAA		0.279	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		A	37036493	G	A	37036493	3	1	734	1	0	0	0	0	1	0	0	0	10430	1059	37	1	6001	1	NIPBL	5	37036493	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	35871	37036493	143878767	249	41668											
LIFR	3977	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	5	38510729	38510729	+	Silent	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:38510729T>C	ENST00000263409.4	-	7	990	c.828A>G	c.(826-828)aaA>aaG	p.K276K	LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Silent_p.K276K	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	276					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)					CTGATAACACTTTTTCTTGAC	0.378			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)		Dom	yes		5	5p13-p12	3977	leukemia inhibitory factor receptor		E	0													106	93	97					5																	38510729		2203	4300	6503	SO:0001819	synonymous_variant	3977			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.828A>G	5.37:g.38510729T>C			Q6LCD9	Silent	SNP	ENST00000263409.4	37	CCDS3927.1																																																																																				0.378	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310		C	38510729	T	C	38510729	2	2	734	1	0	0	0	0	0	0	0	1	8782	1606	56	3		3	LIFR	5	38510729	Silent	SNP	T	TCGA-KN-8428-01A-11D-2310-10	1474236	38510729	142404531	250	41669											
DAB2	1601	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	5	39377146	39377146	+	Silent	SNP	G	G	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:39377146G>T	ENST00000320816.6	-	12	2210	c.1743C>A	c.(1741-1743)ccC>ccA	p.P581P	DAB2_ENST00000339788.6_Silent_p.P363P|DAB2_ENST00000545653.1_Silent_p.P560P|DAB2_ENST00000509337.1_Silent_p.P560P	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	581					activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			ACCAAGCATTGGGTGCCACAG	0.547											OREG0016586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													76	86	82					5																	39377146		2203	4300	6503	SO:0001819	synonymous_variant	1601			U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071			2662	protein-coding gene	gene with protein product		601236	"disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)", "disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)"			8660969, 9620555	Standard	NM_001343		Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.1743C>A	5.37:g.39377146G>T		885	A6NES5|Q13598|Q9BTY0|Q9UK04	Silent	SNP	ENST00000320816.6	37	CCDS34149.1																																																																																				0.547	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367014.1	NM_001343		T	39377146	G	T	39377146	2	4	734	1	0	0	0	0	0	0	0	1	4220	1335	47	4		4	DAB2	5	39377146	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	866417	39377146	141538114	251	41670											
PTGER4	5734	hgsc.bcm.edu;mdanderson.org	37	5	40681716	40681716	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:40681716C>T	ENST00000302472.3	+	2	1645	c.621C>T	c.(619-621)tgC>tgT	p.C207C	PTGER4_ENST00000514343.1_3'UTR	NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	207					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)	TGCTTGTGTGCGGCGCGCTGC	0.701																																																0													24	21	22					5																	40681716		2202	4295	6497	SO:0001819	synonymous_variant	5734			L28175	CCDS3930.1	5p13.1	2012-08-08			ENSG00000171522	ENSG00000171522		"GPCR / Class A : Prostanoid receptors"	9596	protein-coding gene	gene with protein product		601586				7759114, 8661119	Standard	NM_000958		Approved	EP4	uc003jlz.3	P35408	OTTHUMG00000094769	ENST00000302472.3:c.621C>T	5.37:g.40681716C>T			Q3MJ87	Silent	SNP	ENST00000302472.3	37	CCDS3930.1																																																																																				0.701	PTGER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211578.2	NM_000958		T	40681716	C	T	40681716	2	4	734	1	0	0	0	0	0	0	0	1	12751	776	27	1		1	PTGER4	5	40681716	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1304570	40681716	140233544	252	41671											
NNT	23530	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	5	43613077	43613077	+	Silent	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:43613077A>G	ENST00000264663.5	+	3	440	c.219A>G	c.(217-219)gcA>gcG	p.A73A	NNT_ENST00000512996.2_5'UTR|NNT_ENST00000344920.4_Silent_p.A73A	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	73					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)					AGCGAGTGGCATTGTCTCCTG	0.423																																																0													155	158	157					5																	43613077		2203	4300	6503	SO:0001819	synonymous_variant	23530			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.219A>G	5.37:g.43613077A>G			Q16796|Q2TB60|Q8N3V4	Silent	SNP	ENST00000264663.5	37	CCDS3949.1																																																																																				0.423	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977		G	43613077	A	G	43613077	2	3	734	1	0	0	0	0	0	0	0	1	10512	204	8	3		3	NNT	5	43613077	Silent	SNP	A	TCGA-KN-8428-01A-11D-2310-10	2931361	43613077	137302183	253	41672											
MRPS30	10884	mdanderson.org	37	5	44811198	44811198	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:44811198G>A	ENST00000507110.1	+	2	727	c.689G>A	c.(688-690)cGa>cAa	p.R230Q	RP11-53O19.1_ENST00000503179.1_RNA|RP11-53O19.1_ENST00000503452.1_RNA|RP11-53O19.1_ENST00000505637.1_RNA|RP11-53O19.1_ENST00000514597.1_RNA|RP11-53O19.1_ENST00000508123.1_RNA|RP11-53O19.1_ENST00000505401.1_RNA|RP11-53O19.1_ENST00000508945.1_RNA|RP11-53O19.1_ENST00000505302.1_RNA	NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	230					apoptotic process (GO:0006915)|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)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					GATGACTTGCGATACCAGATA	0.383																																																0													137	135	136					5																	44811198		2203	4300	6503	SO:0001583	missense	10884			AF146192	CCDS3951.1	5q11	2012-09-13		2001-11-09	ENSG00000112996	ENSG00000112996		"Mitochondrial ribosomal proteins / small subunits"	8769	protein-coding gene	gene with protein product		611991		PDCD9		10640817, 11279123	Standard	NM_016640		Approved	PAP	uc003joh.3	Q9NP92	OTTHUMG00000096967	ENST00000507110.1:c.689G>A	5.37:g.44811198G>A	ENSP00000424328:p.Arg230Gln		Q96I91|Q96Q19|Q9H0P8|Q9NSF9|Q9NZ76	Missense_Mutation	SNP	ENST00000507110.1	37	CCDS3951.1	.	.	.	.	.	.	.	.	.	.	G	31	5.080982	0.94050	.	.	ENSG00000112996	ENST00000507110	T	0.19669	2.13	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.48519	0.1504	M	0.78049	2.395	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.37056	-0.9722	10	0.27785	T	0.31	-2.816	18.9329	0.92574	0.0:0.0:1.0:0.0	.	230	Q9NP92	RT30_HUMAN	Q	230	ENSP00000424328:R230Q	ENSP00000424328:R230Q	R	+	2	0	MRPS30	44846955	1.000000	0.71417	0.998000	0.56505	0.722000	0.41435	8.419000	0.90253	2.631000	0.89168	0.655000	0.94253	CGA		0.383	MRPS30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214033.2	NM_016640		A	44811198	G	A	44811198	3	1	734	1	0	0	0	0	1	0	0	0	9842	1058	37	1	695	1	MRPS30	5	44811198	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1198121	44811198	136104062	254	41673											
MRPS30	10884	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	5	44812095	44812095	+	Missense_Mutation	SNP	C	C	T	rs61753790		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:44812095C>T	ENST00000507110.1	+	3	864	c.826C>T	c.(826-828)Cgg>Tgg	p.R276W		NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	276					apoptotic process (GO:0006915)|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)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					ATTATTCAAACGGCAGTATGA	0.323																																																0													91	90	90					5																	44812095		2203	4299	6502	SO:0001583	missense	10884			AF146192	CCDS3951.1	5q11	2012-09-13		2001-11-09	ENSG00000112996	ENSG00000112996		"Mitochondrial ribosomal proteins / small subunits"	8769	protein-coding gene	gene with protein product		611991		PDCD9		10640817, 11279123	Standard	NM_016640		Approved	PAP	uc003joh.3	Q9NP92	OTTHUMG00000096967	ENST00000507110.1:c.826C>T	5.37:g.44812095C>T	ENSP00000424328:p.Arg276Trp		Q96I91|Q96Q19|Q9H0P8|Q9NSF9|Q9NZ76	Missense_Mutation	SNP	ENST00000507110.1	37	CCDS3951.1	.	.	.	.	.	.	.	.	.	.	C	15.44	2.834500	0.50951	.	.	ENSG00000112996	ENST00000507110	T	0.19250	2.16	5.81	4.93	0.64822	.	0.106321	0.64402	D	0.000009	T	0.45175	0.1329	M	0.77103	2.36	0.47094	D	0.999311	D	0.89917	1.0	D	0.87578	0.998	T	0.37619	-0.9698	10	0.28530	T	0.3	-0.2011	12.5333	0.56128	0.3696:0.6304:0.0:0.0	rs61753790	276	Q9NP92	RT30_HUMAN	W	276	ENSP00000424328:R276W	ENSP00000424328:R276W	R	+	1	2	MRPS30	44847852	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.829000	0.48128	1.432000	0.47375	-0.181000	0.13052	CGG		0.323	MRPS30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214033.2	NM_016640		T	44812095	C	T	44812095	3	4	734	1	0	0	0	0	1	0	0	0	9842	527	19	1	836	1	MRPS30	5	44812095	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	897	44812095	136103165	255	41674											
ACTBL2	345651	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	5	56777945	56777945	+	Missense_Mutation	SNP	C	C	T	rs149395843	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:56777945C>T	ENST00000423391.1	-	1	691	c.590G>A	c.(589-591)cGa>cAa	p.R197Q	CTD-2023N9.1_ENST00000506106.1_RNA|AC025470.1_ENST00000584598.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	197						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		GTTATAGCCTCGCTCTGTCAG	0.532													C|||	19	0.00379393	0.0144	0.0	5008	,	,		22585	0.0		0.0	False		,,,				2504	0.0															0								C	GLN/ARG	41,4365	45.3+/-79.5	1,39,2163	101	82	88		590	3.9	0.9	5	dbSNP_134	88	0,8600		0,0,4300	yes	missense	ACTBL2	NM_001017992.2	43	1,39,6463	TT,TC,CC		0.0,0.9305,0.3152	probably-damaging	197/377	56777945	41,12965	2203	4300	6503	SO:0001583	missense	345651				CCDS34163.1	5q11.2	2014-08-08			ENSG00000169067	ENSG00000169067			17780	protein-coding gene	gene with protein product		614835					Standard	NM_001017992		Approved	DKFZp686D0972	uc003jrm.3	Q562R1	OTTHUMG00000162330	ENST00000423391.1:c.590G>A	5.37:g.56777945C>T	ENSP00000416706:p.Arg197Gln		B2RPJ1|Q562R2|Q562S9|Q562X8	Missense_Mutation	SNP	ENST00000423391.1	37	CCDS34163.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	13.17	2.156197	0.38021	0.009305	0.0	ENSG00000169067	ENST00000423391	D	0.94576	-3.46	4.77	3.89	0.44902	.	0.094398	0.39083	N	0.001479	D	0.94142	0.8121	H	0.94771	3.58	0.39485	D	0.967951	B	0.27068	0.167	B	0.32211	0.142	D	0.93849	0.7143	10	0.87932	D	0	.	10.9769	0.47472	0.0:0.9077:0.0:0.0923	.	197	Q562R1	ACTBL_HUMAN	Q	197	ENSP00000416706:R197Q	ENSP00000416706:R197Q	R	-	2	0	ACTBL2	56813702	0.866000	0.29940	0.890000	0.34922	0.974000	0.67602	5.926000	0.70070	1.201000	0.43203	0.655000	0.94253	CGA		0.532	ACTBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368579.1	NM_001017992		T	56777945	C	T	56777945	3	4	734	1	0	0	0	0	1	0	0	0	194	884	31	1	544	1	ACTBL2	5	56777945	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	11965850	56777945	124137315	256	41675											
PIK3R1	5295	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	5	67522808	67522808	+	Missense_Mutation	SNP	C	C	T	rs368742778		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:67522808C>T	ENST00000521381.1	+	2	921	c.305C>T	c.(304-306)tCg>tTg	p.S102L	PIK3R1_ENST00000521657.1_Missense_Mutation_p.S102L|PIK3R1_ENST00000274335.5_Missense_Mutation_p.S102L|PIK3R1_ENST00000396611.1_Missense_Mutation_p.S102L	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	102					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)		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)	CCAGGTTCTTCGAAAACTGAA	0.433			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																													Rec	yes		5	5q13.1	5295	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"		"E, O"	1	Whole gene deletion(1)	large_intestine(1)						C	LEU/SER	0,4406		0,0,2203	49	59	55		305	5.8	0.9	5		55	1,8599	1.2+/-3.3	0,1,4299	no	missense	PIK3R1	NM_181523.2	145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	102/725	67522808	1,13005	2203	4300	6503	SO:0001583	missense	5295			M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"SH2 domain containing"	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.305C>T	5.37:g.67522808C>T	ENSP00000428056:p.Ser102Leu		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	ENST00000521381.1	37	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.475463	0.43942	0.0	1.16E-4	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335	T;T;T;T	0.69685	-0.42;-0.42;-0.3;-0.42	5.77	5.77	0.91146	.	0.462575	0.21847	N	0.068223	T	0.55924	0.1951	L	0.29908	0.895	0.33287	D	0.563063	B	0.13145	0.007	B	0.12837	0.008	T	0.58612	-0.7606	10	0.28530	T	0.3	-7.4193	15.789	0.78338	0.0:0.8646:0.1354:0.0	.	102	P27986	P85A_HUMAN	L	102	ENSP00000428056:S102L;ENSP00000429277:S102L;ENSP00000379855:S102L;ENSP00000274335:S102L	ENSP00000274335:S102L	S	+	2	0	PIK3R1	67558564	0.991000	0.36638	0.916000	0.36221	0.971000	0.66376	3.099000	0.50267	2.884000	0.98904	0.655000	0.94253	TCG		0.433	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		T	67522808	C	T	67522808	3	4	734	1	0	0	0	0	1	0	0	0	11920	893	31	1	307	1	PIK3R1	5	67522808	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	10744863	67522808	113392452	257	41676											
PDE8B	8622	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	5	76645327	76645327	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:76645327C>T	ENST00000264917.5	+	8	1005	c.960C>T	c.(958-960)agC>agT	p.S320S	PDE8B_ENST00000333194.4_Silent_p.S320S|PDE8B_ENST00000342343.4_Silent_p.S300S|PDE8B_ENST00000346042.3_Intron|PDE8B_ENST00000340978.3_Intron	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	320	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.				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)	TGCCCAAAAGCGATAAGAACC	0.502																																																0													133	114	121					5																	76645327		2203	4300	6503	SO:0001819	synonymous_variant	8622			AF079529	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	5q14.1	2008-05-15			ENSG00000113231	ENSG00000113231	3.1.4.17	"Phosphodiesterases"	8794	protein-coding gene	gene with protein product		603390				9784418	Standard	NM_003719		Approved		uc003kfa.3	O95263	OTTHUMG00000102170	ENST00000264917.5:c.960C>T	5.37:g.76645327C>T			Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Silent	SNP	ENST00000264917.5	37	CCDS4037.1																																																																																				0.502	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000220015.3	NM_003719		T	76645327	C	T	76645327	2	4	734	1	0	0	0	0	0	0	0	1	11656	767	27	1		1	PDE8B	5	76645327	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	9122519	76645327	104269933	258	41677											
THBS4	7060	broad.mit.edu	37	5	79366537	79366537	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:79366537C>T	ENST00000350881.2	+	12	1714	c.1524C>T	c.(1522-1524)gaC>gaT	p.D508D	CTD-2201I18.1_ENST00000503007.1_RNA|CTD-2201I18.1_ENST00000514042.1_RNA|THBS4_ENST00000511733.1_Silent_p.D417D	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	508					behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		ACGCTTGTGACGAGGATGCTG	0.532																																																0													138	121	127					5																	79366537		2203	4300	6503	SO:0001819	synonymous_variant	7060				CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.1524C>T	5.37:g.79366537C>T			B2R909|Q86TG2	Silent	SNP	ENST00000350881.2	37	CCDS4049.1																																																																																				0.532	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1			T	79366537	C	T	79366537	2	4	734	1	0	0	0	0	0	0	0	1	15861	535	19	1		1	THBS4	5	79366537	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	2721210	79366537	101548723	259	41678											
ACOT12	134526	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	5	80640001	80640001	+	Missense_Mutation	SNP	G	G	A	rs149103852		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:80640001G>A	ENST00000307624.3	-	9	986	c.958C>T	c.(958-960)Cgc>Tgc	p.R320C	ACOT12_ENST00000508234.1_5'UTR	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	320					acetyl-CoA metabolic process (GO:0006084)|acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)|pyruvate metabolic process (GO:0006090)	cytosol (GO:0005829)	acetyl-CoA hydrolase activity (GO:0003986)|ATP binding (GO:0005524)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		ATTCGCTTGCGTGCAATAGCT	0.358																																																0								G	CYS/ARG	0,4406		0,0,2203	68	70	70		958	5.4	1	5	dbSNP_134	70	1,8599	1.2+/-3.3	0,1,4299	no	missense	ACOT12	NM_130767.2	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	320/556	80640001	1,13005	2203	4300	6503	SO:0001583	missense	134526			AB078619	CCDS4055.1	5q14.1	2011-09-13			ENSG00000172497	ENSG00000172497		"Acyl CoA thioesterases", "StAR-related lipid transfer (START) domain containing"	24436	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 15"	614315				16103133, 16940157	Standard	NM_130767		Approved	Cach, THEAL, STARD15	uc003khl.4	Q8WYK0	OTTHUMG00000131305	ENST00000307624.3:c.958C>T	5.37:g.80640001G>A	ENSP00000303246:p.Arg320Cys		B3KVK9|Q5FWE9	Missense_Mutation	SNP	ENST00000307624.3	37	CCDS4055.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.543967	0.65198	0.0	1.16E-4	ENSG00000172497	ENST00000307624	T	0.38077	1.16	5.45	5.45	0.79879	.	0.124801	0.51477	D	0.000098	T	0.69178	0.3082	M	0.92459	3.31	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.76844	-0.2809	10	0.87932	D	0	-15.5955	16.5697	0.84608	0.0:0.0:1.0:0.0	.	320	Q8WYK0	ACO12_HUMAN	C	320	ENSP00000303246:R320C	ENSP00000303246:R320C	R	-	1	0	ACOT12	80675757	1.000000	0.71417	0.998000	0.56505	0.692000	0.40212	3.345000	0.52182	2.725000	0.93324	0.655000	0.94253	CGC		0.358	ACOT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254074.1	NM_130767		A	80640001	G	A	80640001	3	1	734	1	0	0	0	0	1	0	0	0	150	1145	40	1	737	1	ACOT12	5	80640001	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1273464	80640001	100275259	260	41679											
XRCC4	7518	broad.mit.edu;mdanderson.org;bcgsc.ca	37	5	82499423	82499423	+	Missense_Mutation	SNP	C	C	T	rs140143447		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:82499423C>T	ENST00000511817.1	+	5	615	c.535C>T	c.(535-537)Cgg>Tgg	p.R179W	XRCC4_ENST00000509268.1_3'UTR|XRCC4_ENST00000396027.4_Missense_Mutation_p.R179W|XRCC4_ENST00000282268.3_Missense_Mutation_p.R179W|XRCC4_ENST00000338635.6_Missense_Mutation_p.R179W			Q13426	XRCC4_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 4	179					cellular response to lithium ion (GO:0071285)|central nervous system development (GO:0007417)|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)|immunoglobulin V(D)J recombination (GO:0033152)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of ligase activity (GO:0051351)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|T cell differentiation in thymus (GO:0033077)|viral process (GO:0016032)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytosol (GO:0005829)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)	p.R179W(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(2)|skin(3)	17		Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034)		OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28)		TCTTTATAAGCGGTTTATTCT	0.318								Non-homologous end-joining																																								1	Substitution - Missense(1)	kidney(1)						C	TRP/ARG,TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	89	97	94		535,535,535	4.9	0.1	5	dbSNP_134	94	0,8600		0,0,4300	no	missense,missense,missense	XRCC4	NM_003401.3,NM_022406.2,NM_022550.2	101,101,101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	179/335,179/337,179/335	82499423	1,13005	2203	4300	6503	SO:0001583	missense	7518			AB017445	CCDS4058.1, CCDS4059.1	5q14.2	2008-02-05			ENSG00000152422	ENSG00000152422			12831	protein-coding gene	gene with protein product	"X-ray repair, complementing defective, repair in Chinese hamster", "DNA repair protein XRCC4"	194363				1697445, 7665175	Standard	NM_022406		Approved		uc003kib.3	Q13426	OTTHUMG00000131319	ENST00000511817.1:c.535C>T	5.37:g.82499423C>T	ENSP00000421491:p.Arg179Trp		A8K3X4|Q9BS72|Q9UP94	Missense_Mutation	SNP	ENST00000511817.1	37	CCDS4059.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.409449	0.62399	2.27E-4	0.0	ENSG00000152422	ENST00000282268;ENST00000338635;ENST00000396027;ENST00000511817	T;T;T;T	0.38240	1.15;1.15;1.15;1.15	5.88	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.60235	0.2253	M	0.76328	2.33	0.34914	D	0.7478	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.74077	-0.3781	10	0.87932	D	0	-12.6205	14.0478	0.64714	0.331:0.669:0.0:0.0	.	179;179;179	Q13426-2;Q13426;Q13426-3	.;XRCC4_HUMAN;.	W	179	ENSP00000282268:R179W;ENSP00000342011:R179W;ENSP00000379344:R179W;ENSP00000421491:R179W	ENSP00000282268:R179W	R	+	1	2	XRCC4	82535179	0.789000	0.28775	0.134000	0.22075	0.967000	0.64934	1.155000	0.31700	1.263000	0.44181	0.555000	0.69702	CGG		0.318	XRCC4-003	NOVEL	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369624.1	NM_022550		T	82499423	C	T	82499423	3	4	734	1	0	0	0	0	1	0	0	0	17460	759	27	1	549	1	XRCC4	5	82499423	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1859422	82499423	98415837	261	41680											
TMEM161B	153396	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	5	87494939	87494939	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:87494939G>A	ENST00000296595.6	-	10	1067	c.943C>T	c.(943-945)Cga>Tga	p.R315*	TMEM161B_ENST00000514135.1_Nonsense_Mutation_p.R315*|TMEM161B_ENST00000515293.1_5'Flank|TMEM161B_ENST00000506536.1_Nonsense_Mutation_p.R133*|TMEM161B_ENST00000512429.1_Nonsense_Mutation_p.R304*|TMEM161B_ENST00000511218.1_Intron	NM_153354.3	NP_699185.1	Q8NDZ6	T161B_HUMAN	transmembrane protein 161B	315						integral component of membrane (GO:0016021)				endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		AACCAGAGTCGCAGAGTATCG	0.413																																																0													49	45	46					5																	87494939		2203	4299	6502	SO:0001587	stop_gained	153396			BC037287	CCDS4065.1, CCDS75269.1, CCDS75270.1	5q14.3	2008-02-05			ENSG00000164180	ENSG00000164180			28483	protein-coding gene	gene with protein product						12477932	Standard	NM_001289008		Approved	MGC33214	uc003kjc.3	Q8NDZ6	OTTHUMG00000131323	ENST00000296595.6:c.943C>T	5.37:g.87494939G>A	ENSP00000296595:p.Arg315*		Q5CZH7|Q6UWQ6	Nonsense_Mutation	SNP	ENST00000296595.6	37	CCDS4065.1	.	.	.	.	.	.	.	.	.	.	G	39	7.374376	0.98245	.	.	ENSG00000164180	ENST00000514135;ENST00000296595;ENST00000506536;ENST00000512429	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-28.4847	14.9408	0.70992	0.0:0.0:0.8236:0.1764	.	.	.	.	X	315;315;133;304	.	ENSP00000296595:R315X	R	-	1	2	TMEM161B	87530695	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.499000	0.66937	2.805000	0.96524	0.460000	0.39030	CGA		0.413	TMEM161B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254094.1	NM_153354		A	87494939	G	A	87494939	4	1	734	1	0	0	0	0	0	1	0	0	16082	1095	38	1	532	1	TMEM161B	5	87494939	Nonsense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	4995516	87494939	93420321	262	41681											
ANKRD32	84250	broad.mit.edu	37	5	94005883	94005883	+	Silent	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:94005883T>C	ENST00000265140.5	+	13	1979	c.1560T>C	c.(1558-1560)tgT>tgC	p.C520C		NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	520						centrosome (GO:0005813)|nucleus (GO:0005634)				NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		AAAGCTTTTGTCATCAAATTT	0.323																																																0													83	70	74					5																	94005883		692	1589	2281	SO:0001819	synonymous_variant	84250			AL136560	CCDS4071.2	5q15	2013-01-10			ENSG00000133302	ENSG00000133302		"Ankyrin repeat domain containing"	25408	protein-coding gene	gene with protein product			"BRCT domain containing 1"	BRCTD1			Standard	NM_032290		Approved	DKFZp761C121, DKFZp564C0469	uc003kkr.4	Q9BQI6	OTTHUMG00000121133	ENST00000265140.5:c.1560T>C	5.37:g.94005883T>C			B4DMG4|Q3B7K4|Q6NSA5|Q6PHW9|Q9Y402	Silent	SNP	ENST00000265140.5	37	CCDS4071.2																																																																																				0.323	ANKRD32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241610.1	NM_032290		C	94005883	T	C	94005883	2	2	734	1	0	0	0	0	0	0	0	1	660	1673	58	3		3	ANKRD32	5	94005883	Silent	SNP	T	TCGA-KN-8428-01A-11D-2310-10	6510944	94005883	86909377	263	41682											
NUDT12	83594	mdanderson.org	37	5	102895830	102895830	+	Silent	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:102895830A>G	ENST00000230792.2	-	2	216	c.120T>C	c.(118-120)aaT>aaC	p.N40N	NUDT12_ENST00000507423.1_Silent_p.N40N	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	40					NAD catabolic process (GO:0019677)|NADP catabolic process (GO:0006742)	nucleus (GO:0005634)|peroxisome (GO:0005777)	metal ion binding (GO:0046872)|NAD+ diphosphatase activity (GO:0000210)|NADH pyrophosphatase activity (GO:0035529)			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		CAGAAGTTTCATTGAGAAGAG	0.413																																																0													135	129	131					5																	102895830		2202	4300	6502	SO:0001819	synonymous_variant	83594			AL136592	CCDS4096.1, CCDS75284.1	5q15	2013-01-10			ENSG00000112874	ENSG00000112874		"Nudix motif containing", "Ankyrin repeat domain containing"	18826	protein-coding gene	gene with protein product	"nucleoside diphosphate linked moiety X-type motif 12"	609232				11230166	Standard	XM_005272095		Approved	DKFZP761I172	uc003koi.3	Q9BQG2	OTTHUMG00000128739	ENST00000230792.2:c.120T>C	5.37:g.102895830A>G			B3KUW2|Q8TAL7	Silent	SNP	ENST00000230792.2	37	CCDS4096.1																																																																																				0.413	NUDT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250650.1	NM_031438		G	102895830	A	G	102895830	2	3	734	1	0	0	0	0	0	0	0	1	10730	214	8	3		3	NUDT12	5	102895830	Silent	SNP	A	TCGA-KN-8428-01A-11D-2310-10	8889947	102895830	78019430	264	41683											
PJA2	9867	ucsc.edu;mdanderson.org	37	5	108714549	108714549	+	Silent	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:108714549A>G	ENST00000361189.2	-	4	878	c.639T>C	c.(637-639)acT>acC	p.T213T	PJA2_ENST00000511624.1_5'Flank|PJA2_ENST00000361557.3_Silent_p.T213T	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase	213					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)		GTGAAAGACCAGTGTATGCCT	0.408																																																0													143	129	134					5																	108714549		2202	4300	6502	SO:0001819	synonymous_variant	9867			AB007898	CCDS4099.1	5q22.1	2013-01-09	2012-02-23	2003-06-05	ENSG00000198961	ENSG00000198961		"RING-type (C3HC4) zinc fingers"	17481	protein-coding gene	gene with protein product			"ring finger protein 131", "praja ring finger 2"	RNF131			Standard	NM_014819		Approved	KIAA0438, Neurodap1	uc003kos.4	O43164	OTTHUMG00000128750	ENST00000361189.2:c.639T>C	5.37:g.108714549A>G			A8K6U4|D3DSZ5|Q68D49|Q8N1G5	Silent	SNP	ENST00000361189.2	37	CCDS4099.1																																																																																				0.408	PJA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250663.1	NM_014819		G	108714549	A	G	108714549	2	3	734	1	0	0	0	0	0	0	0	1	11964	175	7	3		3	PJA2	5	108714549	Silent	SNP	A	TCGA-KN-8428-01A-11D-2310-10	5818719	108714549	72200711	265	41684											
YTHDC2	64848	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	5	112902857	112902857	+	Missense_Mutation	SNP	G	G	A	rs149048625		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:112902857G>A	ENST00000161863.4	+	22	3124	c.2911G>A	c.(2911-2913)Gtt>Att	p.V971I		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	971					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)		TTGGGCTGTCGTTAAAGCTGC	0.443																																																0								G	ILE/VAL	0,4404		0,0,2202	153	134	141		2911	4.9	1	5	dbSNP_134	141	1,8599	1.2+/-3.3	0,1,4299	no	missense	YTHDC2	NM_022828.3	29	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	benign	971/1431	112902857	1,13003	2202	4300	6502	SO:0001583	missense	64848			AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.2911G>A	5.37:g.112902857G>A	ENSP00000161863:p.Val971Ile		B2RP66	Missense_Mutation	SNP	ENST00000161863.4	37	CCDS4113.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.329351	0.81690	0.0	1.16E-4	ENSG00000047188	ENST00000161863;ENST00000511372	T	0.02763	4.17	4.86	4.86	0.63082	Domain of unknown function DUF1605 (1);	0.000000	0.85682	D	0.000000	T	0.04318	0.0119	L	0.33093	0.98	0.80722	D	1	P	0.36944	0.574	B	0.40782	0.34	T	0.60500	-0.7251	10	0.22706	T	0.39	.	18.1593	0.89703	0.0:0.0:1.0:0.0	.	971	Q9H6S0	YTDC2_HUMAN	I	971;881	ENSP00000161863:V971I	ENSP00000161863:V971I	V	+	1	0	YTHDC2	112930756	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.612000	0.67681	2.513000	0.84729	0.563000	0.77884	GTT		0.443	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	NM_022828		A	112902857	G	A	112902857	3	1	734	1	0	0	0	0	1	0	0	0	17502	1145	40	1	2997	1	YTHDC2	5	112902857	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	4188308	112902857	68012403	266	41685											
CCDC112	153733	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	5	114607065	114607065	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:114607065G>A	ENST00000512261.1	-	8	1344	c.928C>T	c.(928-930)Cgc>Tgc	p.R310C	CCDC112_ENST00000379611.5_Missense_Mutation_p.R393C|CCDC112_ENST00000506442.1_Missense_Mutation_p.R310C|CCDC112_ENST00000395557.4_Missense_Mutation_p.R310C			Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	310										endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		TTAAACTGGCGCTGGCGTTCT	0.358																																																0													136	144	142					5																	114607065		2202	4300	6502	SO:0001583	missense	153733			BC031242	CCDS4117.1, CCDS34213.1	5q22.3	2009-04-17			ENSG00000164221	ENSG00000164221			28599	protein-coding gene	gene with protein product						12477932	Standard	NM_001040440		Approved	MGC39633	uc003kqz.2	Q8NEF3	OTTHUMG00000128894	ENST00000512261.1:c.928C>T	5.37:g.114607065G>A	ENSP00000423712:p.Arg310Cys		Q6A334	Missense_Mutation	SNP	ENST00000512261.1	37	CCDS4117.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.255077	0.80135	.	.	ENSG00000164221	ENST00000379611;ENST00000512261;ENST00000506442;ENST00000395557	T;T;T;T	0.25085	1.89;1.82;1.82;1.82	6.17	5.29	0.74685	.	0.211814	0.49305	D	0.000146	T	0.42921	0.1224	L	0.54323	1.7	0.47037	D	0.99929	D;D;D	0.76494	0.999;0.999;0.992	P;P;P	0.58130	0.833;0.833;0.752	T	0.39742	-0.9599	10	0.87932	D	0	-4.2486	16.4344	0.83871	0.0:0.0:0.8674:0.1326	.	310;393;310	D6RF76;Q8NEF3-2;Q8NEF3	.;.;CC112_HUMAN	C	393;310;310;310	ENSP00000368931:R393C;ENSP00000423712:R310C;ENSP00000424876:R310C;ENSP00000378925:R310C	ENSP00000368931:R393C	R	-	1	0	CCDC112	114634964	1.000000	0.71417	0.987000	0.45799	0.990000	0.78478	3.114000	0.50383	1.584000	0.49913	0.655000	0.94253	CGC		0.358	CCDC112-003	PUTATIVE	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370999.1	NM_152549		A	114607065	G	A	114607065	3	1	734	1	0	0	0	0	1	0	0	0	2751	1087	38	1	428	1	CCDC112	5	114607065	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1704208	114607065	66308195	267	41686											
DMXL1	1657	broad.mit.edu;mdanderson.org;bcgsc.ca	37	5	118500256	118500256	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:118500256T>C	ENST00000311085.8	+	20	4837	c.4757T>C	c.(4756-4758)cTg>cCg	p.L1586P	DMXL1_ENST00000539542.1_Missense_Mutation_p.L1586P	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1586										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)		GAAGAAGAACTGCTGAACATG	0.433																																																0													109	105	106					5																	118500256		2202	4300	6502	SO:0001583	missense	1657			AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"WD repeat domain containing"	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.4757T>C	5.37:g.118500256T>C	ENSP00000309690:p.Leu1586Pro			Missense_Mutation	SNP	ENST00000311085.8	37	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.576757	0.86645	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.70986	-0.53;-0.53	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.87771	0.6261	M	0.92923	3.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.90772	0.4673	10	0.87932	D	0	-5.389	15.7828	0.78275	0.0:0.0:0.0:1.0	.	1586;1586	F5H269;Q9Y485	.;DMXL1_HUMAN	P	1586	ENSP00000309690:L1586P;ENSP00000439479:L1586P	ENSP00000309690:L1586P	L	+	2	0	DMXL1	118528155	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.977000	0.88081	2.125000	0.65367	0.482000	0.46254	CTG		0.433	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		C	118500256	T	C	118500256	3	2	734	1	0	0	0	0	1	0	0	0	4596	1580	55	3	4835	3	DMXL1	5	118500256	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	3893191	118500256	62415004	268	41687											
FTMT	94033	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	5	121188112	121188112	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:121188112G>A	ENST00000321339.1	+	1	463	c.454G>A	c.(454-456)Gac>Aac	p.D152N		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	152	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)			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)		GGAACAGGACGACTGGGAAAG	0.587																																																0													90	88	89					5																	121188112		2203	4300	6503	SO:0001583	missense	94033			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.454G>A	5.37:g.121188112G>A	ENSP00000313691:p.Asp152Asn			Missense_Mutation	SNP	ENST00000321339.1	37	CCDS4128.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.793247	0.31685	.	.	ENSG00000181867	ENST00000321339	T	0.68181	-0.31	3.6	-0.168	0.13343	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);Ferritin/DPS protein domain (1);Ferritin-like (1);	0.209784	0.38837	N	0.001553	T	0.59473	0.2196	M	0.70275	2.135	0.25718	N	0.985403	B	0.14805	0.011	B	0.18263	0.021	T	0.54430	-0.8295	10	0.52906	T	0.07	.	7.1071	0.25370	0.5427:0.0:0.4573:0.0	.	152	Q8N4E7	FTMT_HUMAN	N	152	ENSP00000313691:D152N	ENSP00000313691:D152N	D	+	1	0	FTMT	121216011	1.000000	0.71417	0.260000	0.24451	0.985000	0.73830	2.184000	0.42575	-0.062000	0.13088	0.655000	0.94253	GAC		0.587	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250884.1	NM_177478		A	121188112	G	A	121188112	3	1	734	1	0	0	0	0	1	0	0	0	6087	1058	37	1	456	1	FTMT	5	121188112	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	2687856	121188112	59727148	269	41688											
SIL1	64374	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	5	138287496	138287496	+	Missense_Mutation	SNP	G	G	A	rs201546394	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:138287496G>A	ENST00000394817.2	-	8	984	c.845C>T	c.(844-846)cCg>cTg	p.P282L	SIL1_ENST00000265195.5_Missense_Mutation_p.P282L|SIL1_ENST00000515008.1_5'UTR|SIL1_ENST00000509534.1_Missense_Mutation_p.P289L	NM_022464.4	NP_071909.1	Q9H173	SIL1_HUMAN	SIL1 nucleotide exchange factor	282					intracellular protein transport (GO:0006886)|protein folding (GO:0006457)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TGCAGTGAGCGGCTGCTCCGT	0.617									Marinesco-Sjgren syndrome				G|||	4	0.000798722	0.0	0.0	5008	,	,		19521	0.004		0.0	False		,,,				2504	0.0															0													132	113	119					5																	138287496		2203	4300	6503	SO:0001583	missense	64374	Familial Cancer Database	Marinesco-Sjogren syndrome	AK075177	CCDS4209.1	5q31	2013-08-21	2013-08-21		ENSG00000120725	ENSG00000120725			24624	protein-coding gene	gene with protein product		608005	"Marinesco-Sjogren syndrome", "SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae)"	MSS		11101517, 12356756, 16282977	Standard	XM_006714671		Approved	BAP, ULG5	uc003ldp.3	Q9H173	OTTHUMG00000129226	ENST00000394817.2:c.845C>T	5.37:g.138287496G>A	ENSP00000378294:p.Pro282Leu		D3DQC2|Q8N2L3	Missense_Mutation	SNP	ENST00000394817.2	37	CCDS4209.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	17.21	3.332730	0.60853	.	.	ENSG00000120725	ENST00000394817;ENST00000265195;ENST00000509534	T;T;T	0.51574	0.7;0.7;0.7	4.75	4.75	0.60458	Armadillo-like helical (1);Armadillo-type fold (1);	0.182869	0.48767	D	0.000174	T	0.55577	0.1929	L	0.56769	1.78	0.80722	D	1	D;D	0.67145	0.996;0.991	P;P	0.53401	0.725;0.676	T	0.56050	-0.8043	10	0.42905	T	0.14	-6.8693	14.6129	0.68529	0.0:0.0:1.0:0.0	.	289;282	D6REA1;Q9H173	.;SIL1_HUMAN	L	282;282;289	ENSP00000378294:P282L;ENSP00000265195:P282L;ENSP00000426858:P289L	ENSP00000265195:P282L	P	-	2	0	SIL1	138315395	1.000000	0.71417	0.990000	0.47175	0.228000	0.25075	3.288000	0.51739	2.471000	0.83476	0.655000	0.94253	CCG		0.617	SIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251319.1	NM_022464		A	138287496	G	A	138287496	3	1	734	1	0	0	0	0	1	0	0	0	14327	1116	39	1	552	1	SIL1	5	138287496	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	17099384	138287496	42627764	270	41689											
NRG2	9542	broad.mit.edu;ucsc.edu;mdanderson.org	37	5	139251392	139251392	+	Silent	SNP	G	G	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:139251392G>T	ENST00000361474.1	-	4	1250	c.1026C>A	c.(1024-1026)gcC>gcA	p.A342A	NRG2_ENST00000394770.1_Silent_p.A342A|NRG2_ENST00000340391.3_Silent_p.A139A|NRG2_ENST00000541337.1_Intron|NRG2_ENST00000289422.7_Silent_p.A342A|NRG2_ENST00000545385.1_Silent_p.A342A|NRG2_ENST00000358522.3_Silent_p.A342A|NRG2_ENST00000518130.1_5'UTR|NRG2_ENST00000289409.4_Silent_p.A342A	NM_004883.2	NP_004874.1	O14511	NRG2_HUMAN	neuregulin 2	342	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)			TGCACTTCCGGGCGTGCCCCG	0.562																																																0													164	123	137					5																	139251392		2203	4300	6503	SO:0001819	synonymous_variant	9542				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.1026C>A	5.37:g.139251392G>T				Silent	SNP	ENST00000361474.1	37	CCDS4217.1																																																																																				0.562	NRG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251340.1	NM_013982		T	139251392	G	T	139251392	2	4	734	1	0	0	0	0	0	0	0	1	10650	1219	43	4		4	NRG2	5	139251392	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	963896	139251392	41663868	271	41690											
ANKHD1	54882	broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	139815782	139815782	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:139815782G>A	ENST00000360839.2	+	2	554	c.400G>A	c.(400-402)Gac>Aac	p.D134N	ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.D134N|ANKHD1_ENST00000297183.6_Missense_Mutation_p.D134N|ANKHD1_ENST00000394723.3_Missense_Mutation_p.D134N|ANKHD1_ENST00000394722.3_Missense_Mutation_p.D134N	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	134						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAAGGAGCAGACTTACGCAC	0.368																																																0													90	92	91					5																	139815782		2203	4300	6503	SO:0001583	missense	54882			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"Ankyrin repeat domain containing"	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.400G>A	5.37:g.139815782G>A	ENSP00000354085:p.Asp134Asn		A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	CCDS4225.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.529525	0.85706	.	.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000421134;ENST00000394723;ENST00000511151;ENST00000394722;ENST00000532219	T;T;T;T;T;T;T	0.72835	-0.68;-0.69;-0.67;-0.32;-0.42;-0.2;-0.69	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.76147	0.3947	N	0.24115	0.695	0.80722	D	1	D;D;D;P;B	0.69078	0.968;0.997;0.997;0.936;0.314	P;D;D;P;B	0.77004	0.856;0.989;0.989;0.755;0.121	T	0.76141	-0.3068	10	0.39692	T	0.17	.	19.344	0.94356	0.0:0.0:1.0:0.0	.	134;134;134;134;134	Q8IWZ3-5;Q8IWZ2;Q8IWZ3;Q8IWZ3-3;Q8IWZ3-2	.;.;ANKH1_HUMAN;.;.	N	134;148;134;134;134;134;134;134;134	ENSP00000354085:D134N;ENSP00000297183:D134N;ENSP00000394489:D134N;ENSP00000378212:D134N;ENSP00000421069:D134N;ENSP00000378211:D134N;ENSP00000432016:D134N	ENSP00000432016:D134N	D	+	1	0	ANKHD1-EIF4EBP3;ANKHD1	139795966	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.809000	0.99208	2.534000	0.85438	0.655000	0.94253	GAC		0.368	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		A	139815782	G	A	139815782	3	1	734	1	0	0	0	0	1	0	0	0	628	942	33	2	406	2	ANKHD1	5	139815782	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	564390	139815782	41099478	272	41691											
PCDHA6	56142	broad.mit.edu	37	5	140209042	140209042	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:140209042G>A	ENST00000529310.1	+	1	1480	c.1366G>A	c.(1366-1368)Gcg>Acg	p.A456T	PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.A456T|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	456	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)			TCCGGCGTTCGCGCAGCCCGA	0.657																																																0													52	59	56					5																	140209042		2203	4300	6503	SO:0001583	missense	56142			AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"Cadherins / Protocadherins : Clustered"	8672	other	complex locus constituent	"KIAA0345-like 8"	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1366G>A	5.37:g.140209042G>A	ENSP00000433378:p.Ala456Thr		O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	G	0.141	-1.101871	0.01828	.	.	ENSG00000081842	ENST00000529310;ENST00000527624	T;T	0.01359	4.98;4.98	3.55	1.67	0.24075	Cadherin (3);Cadherin-like (1);	0.220936	0.22040	U	0.065461	T	0.01029	0.0034	N	0.12569	0.235	0.09310	N	1	B;B;B	0.24823	0.018;0.091;0.112	B;B;B	0.28011	0.085;0.025;0.043	T	0.48822	-0.9001	10	0.42905	T	0.14	.	6.2726	0.20963	0.0816:0.1306:0.6539:0.1338	.	456;456;456	Q9UN73-3;Q9UN73;Q9UN73-2	.;PCDA6_HUMAN;.	T	456	ENSP00000433378:A456T;ENSP00000434113:A456T	ENSP00000434113:A456T	A	+	1	0	PCDHA6	140189226	0.000000	0.05858	0.609000	0.28983	0.003000	0.03518	-1.403000	0.02497	-0.001000	0.14495	-1.786000	0.00637	GCG		0.657	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		A	140209042	G	A	140209042	3	1	734	1	0	0	0	0	1	0	0	0	11530	1087	38	1	1368	1	PCDHA6	5	140209042	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	393260	140209042	40706218	273	41692											
PCDHA8	56140	hgsc.bcm.edu;mdanderson.org	37	5	140222343	140222343	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:140222343G>A	ENST00000531613.1	+	1	1437	c.1437G>A	c.(1435-1437)gcG>gcA	p.A479A	PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000378123.3_Silent_p.A479A|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	479	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)|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)			CGGTGTCTGCGCGAGACGCGG	0.657																																																0													44	49	47					5																	140222343		2195	4260	6455	SO:0001819	synonymous_variant	56140			AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"Cadherins / Protocadherins : Clustered"	8674	other	complex locus constituent	"KIAA0345-like 6"	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1437G>A	5.37:g.140222343G>A			B9EGT7|O75281	Silent	SNP	ENST00000531613.1	37	CCDS54919.1																																																																																				0.657	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		A	140222343	G	A	140222343	2	1	734	1	0	0	0	0	0	0	0	1	11532	1074	38	1		1	PCDHA8	5	140222343	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	13301	140222343	40692917	274	41693											
PCDHA9	9752	hgsc.bcm.edu;mdanderson.org	37	5	140229541	140229541	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:140229541C>T	ENST00000532602.1	+	1	2494	c.1461C>T	c.(1459-1461)aaC>aaT	p.N487N	PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000378122.3_Silent_p.N487N|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	487	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCAGGAGAACGCCCTGGTGT	0.667																																					Melanoma(55;1800 1972 14909)											0													55	63	60					5																	140229541		2194	4269	6463	SO:0001819	synonymous_variant	9752			AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"Cadherins / Protocadherins : Clustered"	8675	other	complex locus constituent	"KIAA0345-like 5"	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1461C>T	5.37:g.140229541C>T			O15053|Q2M3S5	Silent	SNP	ENST00000532602.1	37	CCDS54920.1																																																																																				0.667	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		T	140229541	C	T	140229541	2	4	734	1	0	0	0	0	0	0	0	1	11533	535	19	1		1	PCDHA9	5	140229541	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	7198	140229541	40685719	275	41694											
PCDHA11	56138	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	5	140250128	140250128	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:140250128C>T	ENST00000398640.2	+	1	1440	c.1440C>T	c.(1438-1440)gaC>gaT	p.D480D	PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	480	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)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGCGCGGGACGCGGACGCGC	0.662																																																0													91	95	94					5																	140250128		2203	4300	6503	SO:0001819	synonymous_variant	56138			AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"Cadherins / Protocadherins : Clustered"	8665	other	complex locus constituent	"KIAA0345-like 3", "ortholog of mouse CNR7"	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1440C>T	5.37:g.140250128C>T			B2RN58|O75279	Silent	SNP	ENST00000398640.2	37	CCDS47284.1																																																																																				0.662	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		T	140250128	C	T	140250128	2	4	734	1	0	0	0	0	0	0	0	1	11523	535	19	1		1	PCDHA11	5	140250128	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	20587	140250128	40665132	276	41695											
PCDHB8	56128	mdanderson.org	37	5	140559320	140559320	+	Missense_Mutation	SNP	G	G	A	rs17844498	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:140559320G>A	ENST00000239444.2	+	1	1950	c.1705G>A	c.(1705-1707)Ggc>Agc	p.G569S	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	569	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.			G -> S (in Ref. 4; AAG10031). {ECO:0000305}.	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)			GCTGCAGAATGGCTCCGCGCC	0.716													g|||	2327	0.464657	0.4826	0.5	5008	,	,		18920	0.5625		0.3857	False		,,,				2504	0.3957															0													15	26	22					5																	140559320		2189	4273	6462	SO:0001583	missense	56128			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.1705G>A	5.37:g.140559320G>A	ENSP00000239444:p.Gly569Ser		B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	CCDS4250.1	962	0.44047619047619047	215	0.4369918699186992	163	0.45027624309392267	320	0.5594405594405595	264	0.3482849604221636	G	6.532	0.466426	0.12402	.	.	ENSG00000120322	ENST00000239444	T	0.60797	0.16	4.22	2.36	0.29203	Cadherin-like (1);	.	.	.	.	T	0.00012	0.0000	N	0.21448	0.665	0.80722	P	0.0	B	0.11235	0.004	B	0.20767	0.031	T	0.45687	-0.9244	8	0.45353	T	0.12	.	8.2304	0.31595	0.2825:0.0:0.7175:0.0	rs17844498	569	Q9UN66	PCDB8_HUMAN	S	569	ENSP00000239444:G569S	ENSP00000239444:G569S	G	+	1	0	PCDHB8	140539504	0.000000	0.05858	0.335000	0.25508	0.491000	0.33493	0.188000	0.17018	0.235000	0.21160	-0.706000	0.03657	GGC		0.716	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		A	140559320	G	A	140559320	3	1	734	1	0	0	0	0	1	0	0	0	11550	1348	47	2	1707	2	PCDHB8	5	140559320	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	309192	140559320	40355940	277	41696											
PCDHGA4	56111	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	5	140735119	140735119	+	Missense_Mutation	SNP	C	C	T	rs182004159	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:140735119C>T	ENST00000571252.1	+	1	352	c.352C>T	c.(352-354)Cgg>Tgg	p.R118W	PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	118	Cadherin 1. {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)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAGATTTTGCGGGTAGAGGT	0.458																																																0													52	55	54					5																	140735119		1938	4172	6110	SO:0001583	missense	56111			AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.352C>T	5.37:g.140735119C>T	ENSP00000458570:p.Arg118Trp		Q9Y5D3	Missense_Mutation	SNP	ENST00000571252.1	37	CCDS58979.1																																																																																				0.458	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	NM_018917		T	140735119	C	T	140735119	3	4	734	1	0	0	0	0	1	0	0	0	11558	759	27	1	354	1	PCDHGA4	5	140735119	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	175799	140735119	40180141	278	41697											
PCDHGB2	56103	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	5	140740942	140740942	+	Missense_Mutation	SNP	G	G	A	rs267600451		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:140740942G>A	ENST00000522605.1	+	1	1240	c.1240G>A	c.(1240-1242)Gag>Aag	p.E414K	PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_5'Flank|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	414	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)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACCGGGAGGAGATCCCAGA	0.502																																																0													73	82	79					5																	140740942		2010	4158	6168	SO:0001583	missense	56103			AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"Cadherins / Protocadherins : Clustered"	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.1240G>A	5.37:g.140740942G>A	ENSP00000429018:p.Glu414Lys		Q3MIJ3|Q9UN65	Missense_Mutation	SNP	ENST00000522605.1	37	CCDS54924.1	.	.	.	.	.	.	.	.	.	.	.	0.006	-2.043203	0.00398	.	.	ENSG00000253910	ENST00000522605	T	0.01725	4.67	5.3	-0.3	0.12804	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.01523	0.0049	N	0.21324	0.655	0.09310	N	1	B;B	0.14012	0.002;0.009	B;B	0.11329	0.003;0.006	T	0.46952	-0.9154	9	0.13108	T	0.6	.	12.16	0.54099	0.1306:0.6011:0.2683:0.0	.	414;414	Q9Y5G2-2;Q9Y5G2	.;PCDGE_HUMAN	K	414	ENSP00000429018:E414K	ENSP00000429018:E414K	E	+	1	0	PCDHGB2	140721126	0.000000	0.05858	0.664000	0.29753	0.035000	0.12851	-0.204000	0.09425	0.016000	0.14998	-0.176000	0.13171	GAG		0.502	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374741.1	NM_018923		A	140740942	G	A	140740942	3	1	734	1	0	0	0	0	1	0	0	0	11565	1175	41	2	1242	2	PCDHGB2	5	140740942	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	5823	140740942	40174318	279	41698											
PCDHGB3	56102	broad.mit.edu	37	5	140750096	140750096	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:140750096G>A	ENST00000576222.1	+	1	266	c.135G>A	c.(133-135)tcG>tcA	p.S45S	PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	45	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)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGGGGCTCGCTGGTAGGGA	0.552																																																0													73	82	79					5																	140750096		1865	4098	5963	SO:0001819	synonymous_variant	56102			AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.135G>A	5.37:g.140750096G>A			A7E229|Q9Y5C7	Silent	SNP	ENST00000576222.1	37	CCDS58980.1																																																																																				0.552	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		A	140750096	G	A	140750096	2	1	734	1	0	0	0	0	0	0	0	1	11566	1074	38	1		1	PCDHGB3	5	140750096	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	9154	140750096	40165164	280	41699											
PCDHGB5	56102	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	5	140779700	140779700	+	Intron	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:140779700C>T	ENST00000576222.1	+	1	2546				PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_5'Flank|PCDHGA7_ENST00000518325.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3						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)			GAGGTGCTGCCGGATATCACT	0.622																																																0													146	157	154					5																	140779700		2180	4263	6443	SO:0001627	intron_variant	56101			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.2415+27324C>T	5.37:g.140779700C>T			A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	CCDS58980.1																																																																																				0.622	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		T	140779700	C	T	140779700	1	4	734	0	1	0	0	0	0	0	0	0	11568	652	23	1		1	PCDHGB5	5	140779700	Intron	SNP	C	TCGA-KN-8428-01A-11D-2310-10	29604	140779700	40135560	281	41700											
RELL2	285613	broad.mit.edu	37	5	141019122	141019122	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:141019122C>T	ENST00000297164.3	+	4	1609	c.409C>T	c.(409-411)Cgc>Tgc	p.R137C	HDAC3_ENST00000305264.3_5'Flank|FCHSD1_ENST00000523856.1_5'UTR|FCHSD1_ENST00000435817.2_3'UTR|RELL2_ENST00000518856.1_Missense_Mutation_p.R71C|RELL2_ENST00000518025.1_3'UTR|RELL2_ENST00000444782.1_Missense_Mutation_p.R137C|RELL2_ENST00000521367.1_Missense_Mutation_p.R71C	NM_173828.4	NP_776189.3	Q8NC24	RELL2_HUMAN	RELT-like 2	137					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)			CCATTGCAGCCGCAGCAAGAG	0.647																																																0													42	44	43					5																	141019122		2202	4300	6502	SO:0001583	missense	285613			AK054889	CCDS4265.1	5q31.3	2011-10-11	2007-06-15	2007-06-15	ENSG00000164620	ENSG00000164620			26902	protein-coding gene	gene with protein product		611213	"chromosome 5 open reading frame 16"	C5orf16		12975309, 16389068	Standard	NM_173828		Approved	FLJ90583	uc003lli.3	Q8NC24	OTTHUMG00000129612	ENST00000297164.3:c.409C>T	5.37:g.141019122C>T	ENSP00000297164:p.Arg137Cys		D3DQE2|Q6P4E7|Q6UXY2	Missense_Mutation	SNP	ENST00000297164.3	37	CCDS4265.1	.	.	.	.	.	.	.	.	.	.	C	19.47	3.833101	0.71258	.	.	ENSG00000164620	ENST00000444782;ENST00000521367;ENST00000297164;ENST00000518856	T;T;T;T	0.36157	1.27;1.27;1.27;1.27	5.7	5.7	0.88788	.	0.502118	0.19074	N	0.123434	T	0.49490	0.1560	L	0.40543	1.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;P	0.63703	0.917;0.869	T	0.46247	-0.9205	10	0.87932	D	0	-12.8261	14.2977	0.66325	0.1858:0.8142:0.0:0.0	.	71;137	E5RHA7;Q8NC24	.;RELL2_HUMAN	C	137;71;137;71	ENSP00000409443:R137C;ENSP00000430948:R71C;ENSP00000297164:R137C;ENSP00000427992:R71C	ENSP00000297164:R137C	R	+	1	0	RELL2	140999306	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.731000	0.55013	2.683000	0.91414	0.655000	0.94253	CGC		0.647	RELL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251807.2	NM_173828		T	141019122	C	T	141019122	3	4	734	1	0	0	0	0	1	0	0	0	13225	652	23	1	423	1	RELL2	5	141019122	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	239422	141019122	39896138	282	41701											
PCDH1	5097	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	5	141233894	141233894	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:141233894G>A	ENST00000287008.3	-	5	3574	c.3427C>T	c.(3427-3429)Cgc>Tgc	p.R1143C	PCDH1_ENST00000503492.1_3'UTR	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	0					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		TTGGTCCGGCGGCTGGGAGAT	0.657																																					Ovarian(132;1609 1739 4190 14731 45037)											0													26	24	24					5																	141233894		2196	4287	6483	SO:0001583	missense	5097			AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"Cadherins / Protocadherins : Non-clustered"	8655	protein-coding gene	gene with protein product		603626	"protocadherin 1 (cadherin-like 1)"			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000287008.3:c.3427C>T	5.37:g.141233894G>A	ENSP00000287008:p.Arg1143Cys		Q8IUP2	Missense_Mutation	SNP	ENST00000287008.3	37	CCDS4267.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.433086	0.62844	.	.	ENSG00000156453	ENST00000287008	T	0.54675	0.56	4.27	4.27	0.50696	.	0.000000	0.41500	U	0.000867	T	0.67924	0.2945	L	0.56769	1.78	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.72141	-0.4380	10	0.87932	D	0	.	14.5302	0.67920	0.0:0.0:1.0:0.0	.	1143	Q08174-2	.	C	1143	ENSP00000287008:R1143C	ENSP00000287008:R1143C	R	-	1	0	PCDH1	141214078	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.111000	0.71541	2.079000	0.62486	0.313000	0.20887	CGC		0.657	PCDH1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320587.2	NM_032420		A	141233894	G	A	141233894	3	1	734	1	0	0	0	0	1	0	0	0	11508	1116	39	1	290	1	PCDH1	5	141233894	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	214772	141233894	39681366	283	41702											
NR3C1	2908	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	5	142661564	142661564	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:142661564C>T	ENST00000343796.2	-	9	3217	c.2224G>A	c.(2224-2226)Gat>Aat	p.D742N	NR3C1_ENST00000394464.2_Missense_Mutation_p.D742N|NR3C1_ENST00000503201.1_Missense_Mutation_p.D742N|NR3C1_ENST00000504572.1_Missense_Mutation_p.D743N|NR3C1_ENST00000231509.3_Missense_Mutation_p.D743N|NR3C1_ENST00000424646.2_Missense_Mutation_p.D716N|NR3C1_ENST00000394466.2_Missense_Mutation_p.D743N|NR3C1_ENST00000415690.2_Intron|NR3C1_ENST00000416954.2_Missense_Mutation_p.D345N	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)	742	Interaction with CLOCK.|Steroid-binding.				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)	ATGGTCTTATCCAAAAATGTT	0.358																																																0													113	114	114					5																	142661564		2203	4300	6503	SO:0001583	missense	2908			X03225	CCDS4278.1, CCDS34258.1, CCDS47298.1	5q31-q32	2013-01-16	2002-08-27		ENSG00000113580	ENSG00000113580		"Nuclear hormone receptors"	7978	protein-coding gene	gene with protein product		138040	"nuclear receptor subfamily 3, group C, member 1"	GRL		2867473	Standard	NM_001204258		Approved	GR	uc003lnb.3	P04150	OTTHUMG00000129677	ENST00000343796.2:c.2224G>A	5.37:g.142661564C>T	ENSP00000343205:p.Asp742Asn		A0ZXF9|B0LPG8|D3DQF4|P04151|Q53EP5|Q6N0A4	Missense_Mutation	SNP	ENST00000343796.2	37	CCDS4278.1	.	.	.	.	.	.	.	.	.	.	C	7.618	0.676170	0.14841	.	.	ENSG00000113580	ENST00000394464;ENST00000343796;ENST00000361001;ENST00000424646;ENST00000504572;ENST00000394466;ENST00000231509;ENST00000416954;ENST00000503201	D;D;D;D;D;D;D;D	0.95137	-3.62;-3.62;-3.62;-3.62;-3.62;-3.62;-3.62;-3.62	5.93	5.07	0.68467	Nuclear hormone receptor, ligand-binding (2);	0.136660	0.64402	D	0.000003	D	0.92057	0.7483	N	0.08118	0	0.48452	D	0.999652	B;D	0.89917	0.302;1.0	B;D	0.87578	0.101;0.998	D	0.88085	0.2809	10	0.02654	T	1	.	15.2886	0.73849	0.0:0.9331:0.0:0.0669	.	742;743	P04150;E5KQF6	GCR_HUMAN;.	N	742;742;558;716;743;743;743;345;742	ENSP00000377977:D742N;ENSP00000343205:D742N;ENSP00000405282:D716N;ENSP00000422518:D743N;ENSP00000377979:D743N;ENSP00000231509:D743N;ENSP00000404218:D345N;ENSP00000427672:D742N	ENSP00000231509:D743N	D	-	1	0	NR3C1	142641757	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.991000	0.56973	1.528000	0.49103	0.655000	0.94253	GAT		0.358	NR3C1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370829.1			T	142661564	C	T	142661564	3	4	734	1	0	0	0	0	1	0	0	0	10632	855	30	2	165	2	NR3C1	5	142661564	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1427670	142661564	38253696	284	41703											
SH3RF2	153769	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	5	145428792	145428792	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:145428792G>A	ENST00000511217.1	+	6	1358	c.1306G>A	c.(1306-1308)Gtc>Atc	p.V436I	SH3RF2_ENST00000359120.4_Missense_Mutation_p.V436I			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	436	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of phosphatase activity (GO:0010923)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAACAATTACGTCATCCCCAT	0.607											OREG0016895	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													70	69	69					5																	145428792		2203	4300	6503	SO:0001583	missense	153769			AL833297	CCDS4280.1	5q32	2013-01-09	2011-11-04	2011-11-04	ENSG00000156463	ENSG00000156463		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	26299	protein-coding gene	gene with protein product	"heart protein phosphatase 1-binding protein", "POSH-eliminating RING protein"	613377	"protein phosphatase 1, regulatory subunit 39"	PPP1R39		22128169	Standard	NM_152550		Approved	FLJ23654, RNF158, Hepp1, POSHER	uc003lnt.3	Q8TEC5	OTTHUMG00000129685	ENST00000511217.1:c.1306G>A	5.37:g.145428792G>A	ENSP00000424497:p.Val436Ile	1694	A8K961|Q08AM9|Q6GMR9|Q8N5S8|Q96LP8	Missense_Mutation	SNP	ENST00000511217.1	37	CCDS4280.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.452171	0.63290	.	.	ENSG00000156463	ENST00000359120;ENST00000511217	T;T	0.51817	0.69;0.69	5.29	5.29	0.74685	Src homology-3 domain (4);	0.192109	0.34802	N	0.003667	T	0.45135	0.1327	M	0.67517	2.055	0.49389	D	0.999788	P	0.43938	0.822	B	0.32342	0.144	T	0.56257	-0.8009	10	0.59425	D	0.04	-18.2123	17.6888	0.88263	0.0:0.0:1.0:0.0	.	436	Q8TEC5	SH3R2_HUMAN	I	436	ENSP00000352028:V436I;ENSP00000424497:V436I	ENSP00000352028:V436I	V	+	1	0	SH3RF2	145408985	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	5.238000	0.65366	2.470000	0.83445	0.484000	0.47621	GTC		0.607	SH3RF2-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372804.1	NM_152550		A	145428792	G	A	145428792	3	1	734	1	0	0	0	0	1	0	0	0	14265	1145	40	1	1328	1	SH3RF2	5	145428792	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	2767228	145428792	35486468	285	41704											
PPARGC1B	133522	broad.mit.edu	37	5	149212386	149212386	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:149212386G>A	ENST00000309241.5	+	5	782	c.750G>A	c.(748-750)ccG>ccA	p.P250P	PPARGC1B_ENST00000403750.1_Silent_p.P186P|PPARGC1B_ENST00000394320.3_Silent_p.P250P|PPARGC1B_ENST00000360453.4_Silent_p.P211P	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	250					actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			ACAAGGAGCCGGGTGAGGACT	0.682																																																0													34	42	39					5																	149212386		2202	4299	6501	SO:0001819	synonymous_variant	133522			AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"RNA binding motif (RRM) containing"	30022	protein-coding gene	gene with protein product		608886	"peroxisome proliferative activated receptor, gamma, coactivator 1, beta"			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.750G>A	5.37:g.149212386G>A			A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	Silent	SNP	ENST00000309241.5	37	CCDS4298.1																																																																																				0.682	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	NM_133263		A	149212386	G	A	149212386	2	1	734	1	0	0	0	0	0	0	0	1	12303	1103	39	1		1	PPARGC1B	5	149212386	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	3783594	149212386	31702874	286	41705											
GALNT10	55568	broad.mit.edu;mdanderson.org	37	5	153795447	153795447	+	Silent	SNP	C	C	T	rs368630751		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:153795447C>T	ENST00000297107.6	+	11	1745	c.1608C>T	c.(1606-1608)taC>taT	p.Y536Y	GALNT10_ENST00000377661.2_Silent_p.Y474Y|SAP30L-AS1_ENST00000519727.1_RNA|SAP30L-AS1_ENST00000524264.1_RNA|GALNT10_ENST00000377657.3_Silent_p.Y209Y	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	536	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)			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)			TCACGCTGTACGACTGCCACA	0.537																																																0								T		0,4406		0,0,2203	102	92	95		1608	-11.2	0.1	5		95	4,8596	3.0+/-9.4	0,4,4296	no	coding-synonymous	GALNT10	NM_198321.3		0,4,6499	TT,TC,CC		0.0465,0.0,0.0308		536/604	153795447	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	55568			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.1608C>T	5.37:g.153795447C>T			B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Silent	SNP	ENST00000297107.6	37	CCDS4325.1																																																																																				0.537	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252453.1	NM_198321		T	153795447	C	T	153795447	2	4	734	1	0	0	0	0	0	0	0	1	6210	547	19	1		1	GALNT10	5	153795447	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	4583061	153795447	27119813	287	41706											
ATP10B	23120	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	5	160047389	160047389	+	Missense_Mutation	SNP	G	G	A	rs375049408		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:160047389G>A	ENST00000327245.5	-	15	3227	c.2381C>T	c.(2380-2382)tCg>tTg	p.S794L	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	794					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)			CATGATGACCGAGTCAGCACC	0.537																																																0								G	LEU/SER	0,4102		0,0,2051	59	62	61		2381	4.6	0.8	5		61	1,8387		0,1,4193	no	missense	ATP10B	NM_025153.2	145	0,1,6244	AA,AG,GG		0.0119,0.0,0.0080	probably-damaging	794/1462	160047389	1,12489	2051	4194	6245	SO:0001583	missense	23120			AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"ATPases / P-type"	13543	protein-coding gene	gene with protein product			"ATPase, Class V, type 10B"			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.2381C>T	5.37:g.160047389G>A	ENSP00000313600:p.Ser794Leu		Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.190491	0.78789	0.0	1.19E-4	ENSG00000118322	ENST00000327245;ENST00000520108	T;T	0.70164	-0.46;-0.46	5.48	4.61	0.57282	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.236620	0.37012	N	0.002294	T	0.74786	0.3762	M	0.92923	3.36	0.45464	D	0.998431	P;P	0.49862	0.774;0.929	B;B	0.41374	0.284;0.355	T	0.82192	-0.0579	9	.	.	.	.	15.5072	0.75750	0.0:0.1472:0.8528:0.0	.	402;794	Q2YDW8;O94823	.;AT10B_HUMAN	L	794;402	ENSP00000313600:S794L;ENSP00000431081:S402L	.	S	-	2	0	ATP10B	159979967	0.950000	0.32346	0.812000	0.32479	0.948000	0.59901	1.469000	0.35343	1.307000	0.44944	0.644000	0.83932	TCG		0.537	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		A	160047389	G	A	160047389	3	1	734	1	0	0	0	0	1	0	0	0	1117	1059	37	1	2052	1	ATP10B	5	160047389	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	6251942	160047389	20867871	288	41707											
GABRA6	2559	bcgsc.ca	37	5	161119027	161119027	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:161119027A>G	ENST00000274545.5	+	8	1340	c.907A>G	c.(907-909)Atg>Gtg	p.M303V	RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000523217.1_Missense_Mutation_p.M293V			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	303					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)	TGCCACTGCCATGGATTGGTT	0.438										TCGA Ovarian(5;0.080)																																						0													161	137	145					5																	161119027		2203	4300	6503	SO:0001583	missense	2559				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.907A>G	5.37:g.161119027A>G	ENSP00000274545:p.Met303Val		A8K096|Q4VAV2	Missense_Mutation	SNP	ENST00000274545.5	37	CCDS4356.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.627125	0.87560	.	.	ENSG00000145863	ENST00000274545;ENST00000523217	D;D	0.85955	-2.05;-2.05	5.32	5.32	0.75619	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.88808	0.6537	L	0.38733	1.17	0.58432	D	0.999994	D	0.76494	0.999	D	0.85130	0.997	D	0.90200	0.4256	10	0.87932	D	0	.	15.2799	0.73773	1.0:0.0:0.0:0.0	.	303	Q16445	GBRA6_HUMAN	V	303;293	ENSP00000274545:M303V;ENSP00000430527:M293V	ENSP00000274545:M303V	M	+	1	0	GABRA6	161051605	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.228000	0.95250	1.997000	0.58415	0.528000	0.53228	ATG		0.438	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2			G	161119027	A	G	161119027	3	3	734	1	0	0	0	0	1	0	0	0	6167	217	8	3	937	3	GABRA6	5	161119027	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	1071638	161119027	19796233	289	41708											
GABRG2	2566	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	5	161531032	161531032	+	Splice_Site	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:161531032G>A	ENST00000361925.4	+	6	989	c.769G>A	c.(769-771)Gga>Aga	p.G257R	GABRG2_ENST00000414552.2_Splice_Site_p.G297R|GABRG2_ENST00000356592.3_Splice_Site_p.G257R|GABRG2_ENST00000393933.4_Splice_Site_p.G162R			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	257					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|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(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	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;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	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)|Ginkgo biloba(DB01381)|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)	GACAACTTCCGGTAAGATGCA	0.383																																																0													69	67	68					5																	161531032		2203	4300	6503	SO:0001630	splice_region_variant	2566				CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4087	protein-coding gene	gene with protein product	"GABA(A) receptor, gamma 2"	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.769+1G>A	5.37:g.161531032G>A			F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Missense_Mutation	SNP	ENST00000361925.4	37	CCDS4358.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.171779	0.78452	.	.	ENSG00000113327	ENST00000356592;ENST00000414552;ENST00000361925;ENST00000393933;ENST00000522053	T;T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41;-1.41	5.39	5.39	0.77823	Neurotransmitter-gated ion-channel ligand-binding (3);	0.098346	0.64402	D	0.000001	D	0.91600	0.7346	M	0.89163	3.01	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.995	D	0.92927	0.6360	10	0.87932	D	0	.	18.7444	0.91787	0.0:0.0:1.0:0.0	.	297;257;257	F5HB82;P18507;P18507-2	.;GBRG2_HUMAN;.	R	257;297;257;162;162	ENSP00000349000:G257R;ENSP00000410732:G297R;ENSP00000354651:G257R;ENSP00000377510:G162R;ENSP00000430182:G162R	ENSP00000349000:G257R	G	+	1	0	GABRG2	161463610	1.000000	0.71417	1.000000	0.80357	0.410000	0.31052	9.751000	0.98889	2.533000	0.85409	0.655000	0.94253	GGA		0.383	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1		Missense_Mutation	A	161531032	G	A	161531032	5	1	734	1	0	0	0	0	0	0	1	0	6174	1130	39	1	915	1	GABRG2	5	161531032	Splice_Site	SNP	G	TCGA-KN-8428-01A-11D-2310-10	412005	161531032	19384228	290	41709											
SLIT3	6586	broad.mit.edu;ucsc.edu;mdanderson.org	37	5	168096804	168096804	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:168096804G>A	ENST00000519560.1	-	35	4739	c.4320C>T	c.(4318-4320)ggC>ggT	p.G1440G	SLIT3_ENST00000332966.8_Silent_p.G1447G|SLIT3_ENST00000404867.3_Silent_p.G1440G|CTC-558O2.2_ENST00000520041.1_RNA	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1440	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)			GGCAGTGCTCGCCGCTAAAGC	0.592																																					Ovarian(29;311 847 10864 17279 24903)											0													82	63	70					5																	168096804		2203	4300	6503	SO:0001819	synonymous_variant	6586			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.4320C>T	5.37:g.168096804G>A			A6H8U9|J3KNP3|O95804|Q9UFH5	Silent	SNP	ENST00000519560.1	37	CCDS4369.1																																																																																				0.592	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		A	168096804	G	A	168096804	2	1	734	1	0	0	0	0	0	0	0	1	14747	1074	38	1		1	SLIT3	5	168096804	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	6565772	168096804	12818456	291	41710											
KCNIP1	30820	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	5	169931585	169931585	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:169931585C>T	ENST00000411494.1	+	1	9	c.9C>T	c.(7-9)gcC>gcT	p.A3A	KCNIP1_ENST00000390656.4_Silent_p.A3A|KCNIP1_ENST00000328939.4_Silent_p.A3A|KCNIP1_ENST00000434108.1_Silent_p.A3A|KCNIP1_ENST00000377360.4_Intron|KCNIP1_ENST00000520740.1_5'UTR			Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1	3					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)			CCATGGGGGCCGTCATGGGCA	0.582																																																0													86	90	89					5																	169931585		2203	4300	6503	SO:0001819	synonymous_variant	30820			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.9C>T	5.37:g.169931585C>T			B7Z7B4|Q3YAD0|Q3YAD1|Q3YAD2|Q3YAD3|Q5U822	Silent	SNP	ENST00000411494.1	37	CCDS34286.1																																																																																				0.582	KCNIP1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000371760.1			T	169931585	C	T	169931585	2	4	734	1	0	0	0	0	0	0	0	1	8041	639	23	1		1	KCNIP1	5	169931585	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1834781	169931585	10983675	292	41711											
STK10	6793	broad.mit.edu	37	5	171482625	171482626	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:171482625_171482626insC	ENST00000176763.5	-	16	2835_2836	c.2492_2493insG	c.(2491-2493)ggcfs	p.G831fs		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	831	Gln-rich.				cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAGCTGCGCTGCCCCCGCCGTT	0.653																																																0																																										SO:0001589	frameshift_variant	6793			AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.2493dupG	5.37:g.171482630_171482630dupC	ENSP00000176763:p.Gly831fs		A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Frame_Shift_Ins	INS	ENST00000176763.5	37	CCDS34290.1																																																																																				0.653	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372374.2	NM_005990		C	171482626	-	C	171482625	7	5	734	1	0	1	1	0	0	0	0	0	15291	1306	46	0	429	0	STK10	5	171482625	Frame_Shift_Ins	INS	-	TCGA-KN-8428-01A-11D-2310-10	1551040	171482625	9432635	293	41712											
COL23A1	91522	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	5	177679589	177679589	+	Missense_Mutation	SNP	C	C	T	rs371777604		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:177679589C>T	ENST00000390654.3	-	17	1327	c.970G>A	c.(970-972)Gga>Aga	p.G324R		NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	324	Collagen-like 3.|Gly-rich.				collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	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)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		CCCTGTGGTCCGGGAGGCCCC	0.642																																																0								C	ARG/GLY	0,3884		0,0,1942	33	42	39		970	3.7	0.9	5		39	1,8237		0,1,4118	no	missense	COL23A1	NM_173465.3	125	0,1,6060	TT,TC,CC		0.0121,0.0,0.0082	probably-damaging	324/541	177679589	1,12121	1942	4119	6061	SO:0001583	missense	91522			AL137461	CCDS4436.1	5q35.3	2013-01-16			ENSG00000050767	ENSG00000050767		"Collagens"	22990	protein-coding gene	gene with protein product		610043				12644459	Standard	NM_173465		Approved	DKFZp434K0621	uc021yiz.1	Q86Y22	OTTHUMG00000130890	ENST00000390654.3:c.970G>A	5.37:g.177679589C>T	ENSP00000375069:p.Gly324Arg		Q8IVR4|Q9NT93	Missense_Mutation	SNP	ENST00000390654.3	37	CCDS4436.1	.	.	.	.	.	.	.	.	.	.	C	13.38	2.218647	0.39201	0.0	1.21E-4	ENSG00000050767	ENST00000390654	D	0.99353	-5.77	3.73	3.73	0.42828	.	0.000000	0.64402	D	0.000004	D	0.99667	0.9876	H	0.99582	4.64	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97270	0.9910	10	0.87932	D	0	-9.5659	11.2277	0.48892	0.0:1.0:0.0:0.0	.	324	Q86Y22	CONA1_HUMAN	R	324	ENSP00000375069:G324R	ENSP00000375069:G324R	G	-	1	0	COL23A1	177612195	0.988000	0.35896	0.873000	0.34254	0.785000	0.44390	4.157000	0.58144	2.092000	0.63282	0.563000	0.77884	GGA		0.642	COL23A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253475.1	NM_173465		T	177679589	C	T	177679589	3	4	734	1	0	0	0	0	1	0	0	0	3684	661	23	1	704	1	COL23A1	5	177679589	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	6196964	177679589	3235671	294	41713											
MAML1	9794	broad.mit.edu;mdanderson.org	37	5	179192794	179192794	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:179192794G>A	ENST00000292599.3	+	2	1046	c.783G>A	c.(781-783)tcG>tcA	p.S261S	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)			TGAACAGGTCGGTGCCCGATG	0.547																																																0													80	72	75					5																	179192794		2203	4300	6503	SO:0001819	synonymous_variant	9794			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.783G>A	5.37:g.179192794G>A				Silent	SNP	ENST00000292599.3	37	CCDS34315.1																																																																																				0.547	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	NM_014757		A	179192794	G	A	179192794	2	1	734	1	0	0	0	0	0	0	0	1	9207	1103	39	1		1	MAML1	5	179192794	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1513205	179192794	1722466	295	41714											
FLT4	2324	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	5	180052908	180052908	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:180052908C>T	ENST00000261937.6	-	10	1460	c.1382G>A	c.(1381-1383)cGg>cAg	p.R461Q	FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Missense_Mutation_p.R461Q|FLT4_ENST00000393347.3_Missense_Mutation_p.R461Q	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	461	Ig-like C2-type 5.				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)	p.R461Q(2)		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)	TGTCCAGGGCCGCCAGTGCCA	0.667																																					Colon(97;1075 1466 27033 27547 35871)											2	Substitution - Missense(2)	lung(2)											38	45	42					5																	180052908		2201	4294	6495	SO:0001583	missense	2324			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.1382G>A	5.37:g.180052908C>T	ENSP00000261937:p.Arg461Gln		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.192772	0.58017	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000376868	D;D;D	0.93953	-3.32;-3.32;-3.32	4.26	4.26	0.50523	Immunoglobulin subtype (1);Immunoglobulin-like (1);Tyrosine-protein kinase, vascular endothelial growth factor receptor 3 (VEGFR3), N-terminal (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.94172	0.8130	L	0.45744	1.44	0.58432	D	0.999996	D;B;B	0.89917	1.0;0.037;0.064	D;B;B	0.72338	0.977;0.02;0.034	D	0.91303	0.5068	9	0.06891	T	0.86	.	17.0681	0.86564	0.0:1.0:0.0:0.0	.	461;461;461	P35916-3;E9PD35;P35916	.;.;VGFR3_HUMAN	Q	461;461;461;271	ENSP00000261937:R461Q;ENSP00000377016:R461Q;ENSP00000426057:R461Q	ENSP00000261937:R461Q	R	-	2	0	FLT4	179985514	1.000000	0.71417	0.998000	0.56505	0.944000	0.59088	5.593000	0.67550	2.117000	0.64856	0.561000	0.74099	CGG		0.667	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			T	180052908	C	T	180052908	3	4	734	1	0	0	0	0	1	0	0	0	5946	652	23	1	2801	1	FLT4	5	180052908	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	860114	180052908	862352	296	41715											
FAM50B	26240	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	6	3850118	3850118	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:3850118C>T	ENST00000380274.1	+	1	499	c.73C>T	c.(73-75)Cgg>Tgg	p.R25W	FAM50B_ENST00000380272.3_Missense_Mutation_p.R25W			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	25						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)				CGAAAGGCAGCGGGAGCAGAT	0.652																																																0													47	42	43					6																	3850118		2203	4300	6503	SO:0001583	missense	26240			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.73C>T	6.37:g.3850118C>T	ENSP00000369627:p.Arg25Trp		Q5T2L6	Missense_Mutation	SNP	ENST00000380274.1	37	CCDS4487.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.804072	0.70682	.	.	ENSG00000145945	ENST00000380274;ENST00000380272	.	.	.	4.16	-3.77	0.04346	.	0.614436	0.15622	N	0.252852	T	0.45796	0.1360	M	0.64404	1.975	0.32106	N	0.589936	D	0.65815	0.995	P	0.52343	0.696	T	0.62011	-0.6944	9	0.87932	D	0	-14.4722	16.4087	0.83699	0.2079:0.7921:0.0:0.0	.	25	Q9Y247	FA50B_HUMAN	W	25	.	ENSP00000369625:R25W	R	+	1	2	FAM50B	3795117	0.997000	0.39634	0.695000	0.30226	0.935000	0.57460	0.275000	0.18698	-0.356000	0.08187	-0.397000	0.06425	CGG		0.652	FAM50B-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039693.1	NM_012135		T	3850118	C	T	3850118	3	4	734	1	0	0	0	0	1	0	0	0	5580	759	27	1	75	1	FAM50B	6	3850118	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10		3850118	167264949	297	41716											
RREB1	6239	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	6	7231628	7231628	+	Missense_Mutation	SNP	C	C	T	rs376220493		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:7231628C>T	ENST00000349384.6	+	10	3610	c.3296C>T	c.(3295-3297)aCg>aTg	p.T1099M	RREB1_ENST00000379933.3_Missense_Mutation_p.T1099M|RREB1_ENST00000379938.2_Missense_Mutation_p.T1099M|RREB1_ENST00000334984.6_Missense_Mutation_p.T1099M	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1099					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)				AGTAACACCACGGCTTCAGAC	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		13398	0.0		0.0	False		,,,				2504	0.001															0								C	MET/THR,MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	35	40	38		3296,3296,3296,3296	1.1	0	6		38	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	81,81,81,81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	1099/1688,1099/1743,1099/1477,1099/1688	7231628	1,13005	2203	4300	6503	SO:0001583	missense	6239			U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"Zinc fingers, C2H2-type"	10449	protein-coding gene	gene with protein product	"hindsight homolog (drosophila)"	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.3296C>T	6.37:g.7231628C>T	ENSP00000305560:p.Thr1099Met		A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	C	4.189	0.033643	0.08101	0.0	1.16E-4	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984	T;T;T;T	0.11063	2.94;2.91;2.94;2.81	5.46	1.07	0.20283	.	2.026260	0.02349	N	0.075710	T	0.03348	0.0097	L	0.40543	1.245	0.09310	N	1	B;B;B	0.30482	0.07;0.185;0.281	B;B;B	0.18871	0.023;0.01;0.023	T	0.41431	-0.9509	10	0.34782	T	0.22	-0.0059	10.8935	0.47008	0.0:0.6928:0.0:0.3072	.	1099;1099;1099	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	M	1099	ENSP00000369265:T1099M;ENSP00000369270:T1099M;ENSP00000305560:T1099M;ENSP00000335574:T1099M	ENSP00000335574:T1099M	T	+	2	0	RREB1	7176627	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.435000	0.21510	0.258000	0.21686	-0.150000	0.13652	ACG		0.627	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			T	7231628	C	T	7231628	3	4	734	1	0	0	0	0	1	0	0	0	13685	536	19	1	3322	1	RREB1	6	7231628	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	3381510	7231628	163883439	298	41717											
RREB1	6239	hgsc.bcm.edu	37	6	7247005	7247005	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:7247005C>T	ENST00000349384.6	+	11	4471	c.4157C>T	c.(4156-4158)gCg>gTg	p.A1386V	RREB1_ENST00000379933.3_Missense_Mutation_p.A1386V|RREB1_ENST00000379938.2_Missense_Mutation_p.A1441V|RREB1_ENST00000334984.6_Intron	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1386					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)				GCCGGGGGCGCGGCCTCGCAG	0.697																																																0													8	10	9					6																	7247005		2067	4045	6112	SO:0001583	missense	6239			U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"Zinc fingers, C2H2-type"	10449	protein-coding gene	gene with protein product	"hindsight homolog (drosophila)"	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.4157C>T	6.37:g.7247005C>T	ENSP00000305560:p.Ala1386Val		A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	C	8.342	0.828815	0.16749	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384	T;T;T	0.09538	2.99;2.97;2.99	5.69	2.95	0.34219	.	1.656210	0.03303	N	0.189369	T	0.02083	0.0065	N	0.16478	0.41	0.33650	D	0.608334	B;P	0.36378	0.414;0.55	B;B	0.25614	0.028;0.062	T	0.29366	-1.0014	10	0.28530	T	0.3	-0.0137	8.7629	0.34685	0.0:0.548:0.31:0.1419	.	1386;1441	Q92766;Q92766-2	RREB1_HUMAN;.	V	1386;1441;1386	ENSP00000369265:A1386V;ENSP00000369270:A1441V;ENSP00000305560:A1386V	ENSP00000305560:A1386V	A	+	2	0	RREB1	7192004	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.113000	0.15499	0.340000	0.23745	-0.122000	0.15005	GCG		0.697	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			T	7247005	C	T	7247005	3	4	734	1	0	0	0	0	1	0	0	0	13685	768	27	1	4356	1	RREB1	6	7247005	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	15377	7247005	163868062	299	41718											
DSP	1832	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	6	7580988	7580988	+	Missense_Mutation	SNP	C	C	T	rs375150075		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:7580988C>T	ENST00000379802.3	+	23	4906	c.4565C>T	c.(4564-4566)aCg>aTg	p.T1522M	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1522	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)		AGTAGTGCGACGGAGACAATA	0.473																																																0								C	,MET/THR	1,4405	2.1+/-5.4	0,1,2202	119	118	118		,4565	4.1	0	6		118	0,8600		0,0,4300	no	intron,missense	DSP	NM_001008844.1,NM_004415.2	,81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,probably-damaging	,1522/2872	7580988	1,13005	2203	4300	6503	SO:0001583	missense	1832			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.4565C>T	6.37:g.7580988C>T	ENSP00000369129:p.Thr1522Met		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	C	0.509	-0.867174	0.02590	2.27E-4	0.0	ENSG00000096696	ENST00000379802	T	0.71579	-0.58	5.85	4.09	0.47781	.	0.376063	0.25711	N	0.028804	T	0.44705	0.1306	L	0.43152	1.355	0.09310	N	0.999991	B	0.31968	0.349	B	0.28916	0.096	T	0.37596	-0.9699	10	0.54805	T	0.06	.	12.5287	0.56102	0.0:0.8653:0.0:0.1347	.	1522	P15924	DESP_HUMAN	M	1522	ENSP00000369129:T1522M	ENSP00000369129:T1522M	T	+	2	0	DSP	7525987	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	1.064000	0.30579	0.828000	0.34709	-0.137000	0.14449	ACG		0.473	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		T	7580988	C	T	7580988	3	4	734	1	0	0	0	0	1	0	0	0	4783	536	19	1	4655	1	DSP	6	7580988	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	333983	7580988	163534079	300	41719											
TBC1D7	51256	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	6	13321234	13321234	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:13321234C>T	ENST00000379300.3	-	4	530	c.287G>A	c.(286-288)cGc>cAc	p.R96H	TBC1D7_ENST00000356436.4_Missense_Mutation_p.R96H|TBC1D7_ENST00000607658.1_Missense_Mutation_p.R69H|TBC1D7_ENST00000379307.2_Missense_Mutation_p.R69H|TBC1D7_ENST00000343141.4_Missense_Mutation_p.R96H|TBC1D7_ENST00000607532.1_5'UTR	NM_001143964.2|NM_016495.4	NP_001137436.1|NP_057579.1	Q9P0N9	TBCD7_HUMAN	TBC1 domain family, member 7	96	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				activation of Rho GTPase activity (GO:0032862)|negative regulation of cilium assembly (GO:1902018)|negative regulation of TOR signaling (GO:0032007)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of Rab GTPase activity (GO:0032851)|response to growth factor (GO:0070848)	ciliary basal body (GO:0036064)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)			ACTAACAAAGCGAACGACTTT	0.498																																																0													293	257	269					6																	13321234		2203	4300	6503	SO:0001583	missense	51256			AF151073	CCDS4523.1, CCDS47376.1, CCDS58995.1	6p23	2013-07-10			ENSG00000145979	ENSG00000145979			21066	protein-coding gene	gene with protein product		612655				11042152, 17646400	Standard	XM_005249163		Approved	dJ257A7.3, FLJ32666	uc003nan.3	Q9P0N9	OTTHUMG00000014272	ENST00000379300.3:c.287G>A	6.37:g.13321234C>T	ENSP00000368602:p.Arg96His		E7EV96|Q2TU37|Q53F44|Q5SZL7|Q86VM8|Q96MB8	Missense_Mutation	SNP	ENST00000379300.3	37	CCDS4523.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.791100	0.50102	.	.	ENSG00000145979	ENST00000334971;ENST00000421203;ENST00000356436;ENST00000379300;ENST00000379307;ENST00000343141;ENST00000452989;ENST00000450347;ENST00000422136;ENST00000446018;ENST00000420456;ENST00000428109;ENST00000416436;ENST00000379291	T;T;T;T;T;T;T;T;T;T;T;T;T	0.50813	2.22;2.22;2.22;1.24;1.35;1.25;1.25;2.22;1.22;1.2;2.22;2.22;0.73	5.85	4.99	0.66335	Rab-GAP/TBC domain (1);	0.044377	0.85682	D	0.000000	T	0.26122	0.0637	M	0.64567	1.98	0.54753	D	0.999987	P;P;B;B;B	0.38642	0.501;0.641;0.066;0.32;0.092	B;B;B;B;B	0.29942	0.109;0.109;0.008;0.081;0.01	T	0.22941	-1.0202	10	0.56958	D	0.05	-10.901	10.0772	0.42368	0.0:0.8495:0.0:0.1505	.	96;69;69;69;96	Q2TU37;Q5JPB9;Q5SZL5;Q9P0N9-2;Q9P0N9	.;.;.;.;TBCD7_HUMAN	H	37;96;96;96;69;96;69;69;96;69;69;96;96;96	ENSP00000401438:R96H;ENSP00000348813:R96H;ENSP00000368602:R96H;ENSP00000368609:R69H;ENSP00000343100:R96H;ENSP00000414292:R69H;ENSP00000404680:R69H;ENSP00000394425:R96H;ENSP00000417005:R69H;ENSP00000412102:R69H;ENSP00000414101:R96H;ENSP00000401339:R96H;ENSP00000368593:R96H	ENSP00000334212:R37H	R	-	2	0	TBC1D7	13429213	1.000000	0.71417	0.920000	0.36463	0.645000	0.38454	5.699000	0.68310	1.499000	0.48617	0.555000	0.69702	CGC		0.498	TBC1D7-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039896.2	NM_016495		T	13321234	C	T	13321234	3	4	734	1	0	0	0	0	1	0	0	0	15629	768	27	1	614	1	TBC1D7	6	13321234	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	5740246	13321234	157793833	301	41720											
HIST1H3C	8352	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	6	26045706	26045706	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:26045706C>T	ENST00000540144.1	+	1	68	c.68C>T	c.(67-69)aCt>aTt	p.T23I	HIST1H2BB_ENST00000357905.2_5'Flank	NM_003531.2	NP_003522.1	P68431	H31_HUMAN	histone cluster 1, H3c	23					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)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						CAGCTTGCTACTAAAGCAGCC	0.587																																																0													38	42	41					6																	26045706		2203	4300	6503	SO:0001583	missense	8352			X57128	CCDS4576.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196532	ENSG00000278272		"Histones / Replication-dependent"	4768	protein-coding gene	gene with protein product		602812	"H3 histone family, member C", "histone 1, H3c"	H3FC		8227173, 9119399, 12408966	Standard	NM_003531		Approved	H3/c, H3.1	uc003nfv.3	P68431	OTTHUMG00000014416	ENST00000540144.1:c.68C>T	6.37:g.26045706C>T	ENSP00000439493:p.Thr23Ile		A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000540144.1	37	CCDS4576.1	.	.	.	.	.	.	.	.	.	.	C	10.64	1.407551	0.25378	.	.	ENSG00000196532	ENST00000540144	T	0.48836	0.8	4.67	4.67	0.58626	.	.	.	.	.	T	0.59770	0.2218	.	.	.	0.43824	D	0.996397	.	.	.	.	.	.	T	0.65249	-0.6214	6	0.87932	D	0	.	17.4292	0.87534	0.0:1.0:0.0:0.0	.	.	.	.	I	23	ENSP00000439493:T23I	ENSP00000439493:T23I	T	+	2	0	HIST1H3C	26153685	1.000000	0.71417	0.998000	0.56505	0.009000	0.06853	7.682000	0.84083	2.529000	0.85273	0.591000	0.81541	ACT		0.587	HIST1H3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040078.1	NM_003531		T	26045706	C	T	26045706	3	4	734	1	0	0	0	0	1	0	0	0	7159	565	20	2	70	2	HIST1H3C	6	26045706	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	12724472	26045706	145069361	302	41721											
HIST1H1T	3010	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	6	26108074	26108074	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:26108074C>T	ENST00000338379.4	-	1	290	c.248G>A	c.(247-249)cGc>cAc	p.R83H		NM_005323.3	NP_005314.2	P22492	H1T_HUMAN	histone cluster 1, H1t	83	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				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						CAGTTTGATGCGGCTGTTATT	0.502																																																0													119	118	118					6																	26108074		2203	4300	6503	SO:0001583	missense	3010			M60094	CCDS34349.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000187475	ENSG00000187475		"Histones / Replication-dependent"	4720	protein-coding gene	gene with protein product		142712	"H1 histone family, member T (testis-specific)", "histone 1, H1t"	H1FT		8175896, 12408966	Standard	NM_005323		Approved	H1t	uc003ngj.3	P22492	OTTHUMG00000014430	ENST00000338379.4:c.248G>A	6.37:g.26108074C>T	ENSP00000341214:p.Arg83His		Q6ISI1|Q8IUE8	Missense_Mutation	SNP	ENST00000338379.4	37	CCDS34349.1	.	.	.	.	.	.	.	.	.	.	.	18.33	3.600291	0.66332	.	.	ENSG00000187475	ENST00000338379	T	0.10382	2.88	5.53	4.67	0.58626	Histone H1/H5 (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.16557	0.0398	L	0.55481	1.735	0.49051	D	0.999744	D	0.60160	0.987	D	0.65140	0.932	T	0.00773	-1.1572	10	0.59425	D	0.04	-14.1027	13.622	0.62143	0.0:0.9264:0.0:0.0736	.	83	P22492	H1T_HUMAN	H	83	ENSP00000341214:R83H	ENSP00000341214:R83H	R	-	2	0	HIST1H1T	26216053	1.000000	0.71417	0.995000	0.50966	0.018000	0.09664	2.499000	0.45372	1.583000	0.49898	0.655000	0.94253	CGC		0.502	HIST1H1T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040093.2	NM_005323		T	26108074	C	T	26108074	3	4	734	1	0	0	0	0	1	0	0	0	7129	768	27	1	379	1	HIST1H1T	6	26108074	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	62368	26108074	145006993	303	41722											
UBD	10537	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	6	29524017	29524017	+	Missense_Mutation	SNP	C	C	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:29524017C>A	ENST00000377050.4	-	2	361	c.138G>T	c.(136-138)caG>caT	p.Q46H	GABBR1_ENST00000355973.3_3'UTR	NM_006398.3	NP_006389.2	O15205	UBD_HUMAN	ubiquitin D	46	Ubiquitin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00214}.				aggresome assembly (GO:0070842)|myeloid dendritic cell differentiation (GO:0043011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein modification by small protein conjugation (GO:0032446)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to organonitrogen compound (GO:0010243)|response to tumor necrosis factor (GO:0034612)|ubiquitin-dependent protein catabolic process (GO:0006511)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	proteasome binding (GO:0070628)			kidney(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						GAACCTGGTCCTGCACAGGAA	0.463																																																0													82	68	73					6																	29524017		1511	2709	4220	SO:0001583	missense	10537			Y12653	CCDS4662.1	6p21.3	2008-04-11			ENSG00000213886	ENSG00000213886			18795	protein-coding gene	gene with protein product		606050				9368598, 8662070	Standard	NM_006398		Approved	FAT10	uc003nmo.3	O15205	OTTHUMG00000031289	ENST00000377050.4:c.138G>T	6.37:g.29524017C>A	ENSP00000366249:p.Gln46His		B0UZT6|Q5STL2|Q5SUK2|Q96EC7	Missense_Mutation	SNP	ENST00000377050.4	37	CCDS4662.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.173002	0.57584	.	.	ENSG00000213886	ENST00000377050	T	0.72725	-0.68	5.17	3.03	0.35002	Ubiquitin supergroup (1);Ubiquitin (2);	0.268702	0.18643	U	0.135240	T	0.48943	0.1528	L	0.36672	1.1	0.80722	D	1	P	0.47484	0.896	P	0.44673	0.457	T	0.55153	-0.8185	10	0.87932	D	0	-14.0263	7.8356	0.29368	0.0:0.7767:0.0:0.2233	.	46	O15205	UBD_HUMAN	H	46	ENSP00000366249:Q46H	ENSP00000366249:Q46H	Q	-	3	2	UBD	29631996	0.001000	0.12720	0.989000	0.46669	0.707000	0.40811	-0.805000	0.04530	1.162000	0.42619	0.609000	0.83330	CAG		0.463	UBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076628.3			A	29524017	C	A	29524017	3	1	734	1	0	0	0	0	1	0	0	0	16848	680	24	4	363	4	UBD	6	29524017	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	3415943	29524017	141591050	304	41723											
DDR1	780	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	6	30864435	30864435	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:30864435C>T	ENST00000324771.8	+	15	2210	c.1662C>T	c.(1660-1662)ggC>ggT	p.G554G	DDR1_ENST00000376567.2_Silent_p.G517G|DDR1_ENST00000452441.1_Silent_p.G554G|DDR1_ENST00000513240.1_Silent_p.G554G|DDR1_ENST00000376569.3_Silent_p.G517G|DDR1_ENST00000508312.1_Silent_p.G535G|DDR1_ENST00000376570.4_Silent_p.G517G|DDR1_ENST00000376575.3_Silent_p.G554G|DDR1_ENST00000376568.3_Silent_p.G554G|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000454612.2_Silent_p.G517G|DDR1_ENST00000418800.2_Silent_p.G517G|DDR1_ENST00000361741.4_Intron			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	554	Gly/Pro-rich.				branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|ear development (GO:0043583)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine autophosphorylation (GO:0038083)|protein autophosphorylation (GO:0046777)|regulation of cell growth (GO:0001558)|regulation of cell-matrix adhesion (GO:0001952)|regulation of extracellular matrix disassembly (GO:0010715)|smooth muscle cell migration (GO:0014909)|smooth muscle cell-matrix adhesion (GO:0061302)|wound healing, spreading of cells (GO:0044319)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	AGAAGCCAGGCGCCCCGCTTC	0.607																																																0													42	49	46					6																	30864435		2203	4300	6503	SO:0001819	synonymous_variant	780			X99031	CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1	6p21.33	2010-02-17	2008-01-23		ENSG00000204580	ENSG00000204580	2.7.10.1	"CD molecules"	2730	protein-coding gene	gene with protein product		600408	"discoidin domain receptor family, member 1"	NTRK4, PTK3A, NEP, CAK, EDDR1		7789998	Standard	NM_001954		Approved	RTK6, CD167	uc003nrv.3	Q08345	OTTHUMG00000031236	ENST00000324771.8:c.1662C>T	6.37:g.30864435C>T			B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Silent	SNP	ENST00000324771.8	37	CCDS34385.1	.	.	.	.	.	.	.	.	.	.	C	8.689	0.907010	0.17833	.	.	ENSG00000204580	ENST00000514434	.	.	.	5.21	-10.4	0.00318	.	.	.	.	.	T	0.28200	0.0696	.	.	.	0.36146	D	0.847148	.	.	.	.	.	.	T	0.46414	-0.9193	4	.	.	.	.	8.6903	0.34262	0.0:0.4028:0.189:0.4082	.	.	.	.	C	46	.	.	R	+	1	0	DDR1	30972414	0.001000	0.12720	0.144000	0.22314	0.963000	0.63663	-2.977000	0.00664	-1.503000	0.01812	-1.384000	0.01168	CGC		0.607	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076494.3	NM_013994		T	30864435	C	T	30864435	2	4	734	1	0	0	0	0	0	0	0	1	4338	755	27	1		1	DDR1	6	30864435	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1340418	30864435	140250632	305	41724											
HLA-B	3106	mdanderson.org	37	6	31324176	31324176	+	Silent	SNP	C	C	G	rs12721836	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:31324176C>G	ENST00000412585.2	-	3	415	c.387G>C	c.(385-387)ccG>ccC	p.P129P		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	129	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						GGCGCCCGTCCGGCCCCACGT	0.731									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																																							0													20	17	18					6																	31324176		1973	4106	6079	SO:0001819	synonymous_variant	3106	Familial Cancer Database	;Lichen Sclerosis, Familial	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4932	protein-coding gene	gene with protein product		142830	"ankylosing spondylitis"	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.387G>C	6.37:g.31324176C>G			Q29764	Silent	SNP	ENST00000412585.2	37	CCDS34394.1																																																																																				0.731	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514		G	31324176	C	G	31324176	2	3	734	1	0	0	0	0	0	0	0	1	7198	639	23	4		4	HLA-B	6	31324176	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	459741	31324176	139790891	306	41725											
MICB	4277	bcgsc.ca	37	6	31475183	31475183	+	Missense_Mutation	SNP	C	C	T	rs45470602	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:31475183C>T	ENST00000252229.6	+	5	978	c.899C>T	c.(898-900)gCg>gTg	p.A300V	MICB_ENST00000538442.1_Missense_Mutation_p.A268V|MICB_ENST00000399150.3_Missense_Mutation_p.A257V	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						TCAGGGAAGGCGCTGGTGCTT	0.498													c|||	12	0.00239617	0.0083	0.0	5008	,	,		21752	0.0		0.001	False		,,,				2504	0.0															0								C	VAL/ALA	31,3891		0,31,1930	127	127	127		899	-0.7	0	6	dbSNP_127	127	0,8294		0,0,4147	yes	missense	MICB	NM_005931.3	64	0,31,6077	TT,TC,CC		0.0,0.7904,0.2538	benign	300/384	31475183	31,12185	1961	4147	6108	SO:0001583	missense	4277				CCDS43449.1, CCDS75422.1, CCDS75423.1	6p21.3	2013-01-11			ENSG00000204516	ENSG00000204516		"Immunoglobulin superfamily / C1-set domain containing"	7091	protein-coding gene	gene with protein product		602436				8022771	Standard	NM_005931		Approved	PERB11.2	uc003ntn.4	Q29980	OTTHUMG00000031074	ENST00000252229.6:c.899C>T	6.37:g.31475183C>T	ENSP00000252229:p.Ala300Val			Missense_Mutation	SNP	ENST00000252229.6	37	CCDS43449.1	5	0.0022893772893772895	4	0.008130081300813009	0	0.0	0	0.0	1	0.0013192612137203166	-	0.014	-1.587280	0.00872	0.007904	0.0	ENSG00000204516	ENST00000538442;ENST00000399150;ENST00000252229	T;T;T	0.00816	5.66;5.78;5.76	1.33	-0.662	0.11413	.	.	.	.	.	T	0.00241	0.0007	.	.	.	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.08055	0.003;0.002	T	0.29336	-1.0015	8	0.28530	T	0.3	.	4.7187	0.12909	0.0:0.674:0.0:0.326	rs45470602	268;257	F5H7Q8;A2AC57	.;.	V	268;257;300	ENSP00000442345:A268V;ENSP00000382103:A257V;ENSP00000252229:A300V	ENSP00000252229:A300V	A	+	2	0	MICB	31583162	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.586000	0.05787	-0.269000	0.09298	-1.358000	0.01219	GCG		0.498	MICB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076102.3	NM_005931		T	31475183	C	T	31475183	3	4	734	1	0	0	0	0	1	0	0	0	9577	768	27	1	917	1	MICB	6	31475183	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	151007	31475183	139639884	307	41726											
SLC39A7	7922	ucsc.edu;mdanderson.org	37	6	33169433	33169433	+	Splice_Site	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:33169433T>C	ENST00000374677.3	+	1	784	c.411T>C	c.(409-411)taT>taC	p.Y137Y	HSD17B8_ENST00000374662.3_5'Flank|RNY4P10_ENST00000365571.1_RNA|RXRB_ENST00000374680.3_5'Flank|SLC39A7_ENST00000374675.3_Splice_Site_p.Y137Y|RXRB_ENST00000413614.2_5'Flank|RXRB_ENST00000374685.4_5'Flank|RXRB_ENST00000544186.1_5'Flank	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	137					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						TCTGGGCTTATGTGAGTCTCC	0.572																																																0													53	53	53					6																	33169433		2021	4191	6212	SO:0001630	splice_region_variant	7922			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.411+1T>C	6.37:g.33169433T>C			B0UXF6|Q5STP8|Q9UIQ0	Silent	SNP	ENST00000374677.3	37	CCDS43453.1																																																																																				0.572	SLC39A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076499.2	NM_006979	Silent	C	33169433	T	C	33169433	5	2	734	1	0	0	0	0	0	0	1	0	14629	1478	51	3	413	3	SLC39A7	6	33169433	Splice_Site	SNP	T	TCGA-KN-8428-01A-11D-2310-10	1694250	33169433	137945634	308	41727											
MDGA1	266727	hgsc.bcm.edu	37	6	37618098	37618098	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:37618098G>A	ENST00000434837.3	-	8	2574	c.1396C>T	c.(1396-1398)Cgg>Tgg	p.R466W	MDGA1_ENST00000297153.7_Missense_Mutation_p.R466W|MDGA1_ENST00000505425.1_Missense_Mutation_p.R466W|MDGA1_ENST00000510077.1_5'Flank	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	466	Ig-like 5.				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						GGCTTGCCCCGCACCTCGCAT	0.706																																																0													7	10	9					6																	37618098		2028	4132	6160	SO:0001583	missense	266727			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.1396C>T	6.37:g.37618098G>A	ENSP00000402584:p.Arg466Trp		A6NHG0|Q8NBE3	Missense_Mutation	SNP	ENST00000434837.3	37	CCDS47417.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.056466	0.76074	.	.	ENSG00000112139	ENST00000434837;ENST00000297153;ENST00000505425	T;T;T	0.68025	-0.3;-0.3;-0.3	3.69	3.69	0.42338	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.37012	N	0.002289	T	0.67183	0.2866	L	0.43757	1.38	0.38348	D	0.944243	D	0.89917	1.0	D	0.69824	0.966	T	0.72064	-0.4403	10	0.66056	D	0.02	.	12.7081	0.57073	0.0:0.0:1.0:0.0	.	466	Q8NFP4	MDGA1_HUMAN	W	466	ENSP00000402584:R466W;ENSP00000297153:R466W;ENSP00000422042:R466W	ENSP00000297153:R466W	R	-	1	2	MDGA1	37726076	1.000000	0.71417	0.997000	0.53966	0.759000	0.43091	4.821000	0.62679	1.893000	0.54813	0.407000	0.27541	CGG		0.706	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040419.3			A	37618098	G	A	37618098	3	1	734	1	0	0	0	0	1	0	0	0	9408	1086	38	1	1511	1	MDGA1	6	37618098	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	4448665	37618098	133496969	309	41728											
DNAH8	1769	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	6	38773263	38773263	+	Missense_Mutation	SNP	G	G	A	rs375687323		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:38773263G>A	ENST00000359357.3	+	21	2644	c.2390G>A	c.(2389-2391)cGg>cAg	p.R797Q	DNAH8_ENST00000449981.2_Missense_Mutation_p.R1014Q|DNAH8_ENST00000441566.1_Missense_Mutation_p.R797Q			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	797					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						ATAGAACAGCGGAAACACGTT	0.328																																																0								G	GLN/ARG	0,4406		0,0,2203	100	95	97		3041	2.7	0.9	6		97	3,8597	3.0+/-9.4	0,3,4297	no	missense	DNAH8	NM_001206927.1	43	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign	1014/4708	38773263	3,13003	2203	4300	6503	SO:0001583	missense	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.2390G>A	6.37:g.38773263G>A	ENSP00000352312:p.Arg797Gln		O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37		.	.	.	.	.	.	.	.	.	.	G	9.880	1.201280	0.22121	0.0	3.49E-4	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.24151	1.9;1.89;1.87	5.45	2.68	0.31781	.	0.435915	0.21628	N	0.071528	T	0.01976	0.0062	N	0.00926	-1.1	0.24700	N	0.993261	B	0.17667	0.023	B	0.09377	0.004	T	0.47983	-0.9074	10	0.12103	T	0.63	.	9.4369	0.38643	0.2346:0.0:0.7654:0.0	.	797	Q96JB1	DYH8_HUMAN	Q	1002;1002;797;797	ENSP00000333363:R1002Q;ENSP00000352312:R797Q;ENSP00000402294:R797Q	ENSP00000333363:R1002Q	R	+	2	0	DNAH8	38881241	0.994000	0.37717	0.925000	0.36789	0.902000	0.53008	0.766000	0.26560	0.797000	0.33971	0.655000	0.94253	CGG		0.328	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		A	38773263	G	A	38773263	3	1	734	1	0	0	0	0	1	0	0	0	4609	1116	39	1	2464	1	DNAH8	6	38773263	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1155165	38773263	132341804	310	41729											
USP49	25862	broad.mit.edu;mdanderson.org;bcgsc.ca	37	6	41767668	41767668	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:41767668G>A	ENST00000394253.3	-	5	1899	c.1570C>T	c.(1570-1572)Cga>Tga	p.R524*	USP49_ENST00000297229.2_Nonsense_Mutation_p.R524*|USP49_ENST00000373006.1_Nonsense_Mutation_p.R524*|USP49_ENST00000373009.3_Nonsense_Mutation_p.R524*|USP49_ENST00000373010.1_Nonsense_Mutation_p.R524*			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	524	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)			TTGGATTTTCGTCGTTTGCCT	0.433																																																0													196	182	187					6																	41767668		2203	4300	6503	SO:0001587	stop_gained	25862			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.1570C>T	6.37:g.41767668G>A	ENSP00000377797:p.Arg524*		Q5T3D9|Q5T3E0|Q96CK4	Nonsense_Mutation	SNP	ENST00000394253.3	37		.	.	.	.	.	.	.	.	.	.	G	40	8.030610	0.98619	.	.	ENSG00000164663	ENST00000394253;ENST00000373010;ENST00000373009;ENST00000373006;ENST00000297229	.	.	.	5.67	4.81	0.61882	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.1102	9.2025	0.37268	0.0736:0.0:0.7818:0.1446	.	.	.	.	X	524	.	ENSP00000297229:R524X	R	-	1	2	USP49	41875646	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.391000	0.66266	1.416000	0.47057	0.655000	0.94253	CGA		0.433	USP49-007	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000316513.3	NM_018561		A	41767668	G	A	41767668	4	1	734	1	0	0	0	0	0	1	0	0	17085	1153	40	1	360	1	USP49	6	41767668	Nonsense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	2994405	41767668	129347399	311	41730											
UBR2	23304	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	6	42641562	42641562	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:42641562G>A	ENST00000372899.1	+	37	4378	c.4120G>A	c.(4120-4122)Gca>Aca	p.A1374T	UBR2_ENST00000372883.3_3'UTR|UBR2_ENST00000372901.1_Missense_Mutation_p.A1374T	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1374					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)			GAGATTTGCCGCAGCACACTG	0.353																																																0													150	131	138					6																	42641562		2203	4300	6503	SO:0001583	missense	23304			BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"Ubiquitin protein ligase E3 component n-recognins"	21289	protein-coding gene	gene with protein product		609134	"chromosome 6 open reading frame 133"	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.4120G>A	6.37:g.42641562G>A	ENSP00000361990:p.Ala1374Thr		O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	ENST00000372899.1	37	CCDS4870.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.254407	0.39896	.	.	ENSG00000024048	ENST00000372899;ENST00000372901	T;T	0.57595	0.39;0.39	5.27	4.39	0.52855	.	0.231094	0.45126	D	0.000387	T	0.26340	0.0643	L	0.42245	1.32	0.80722	D	1	B;B	0.27951	0.06;0.195	B;B	0.24394	0.023;0.053	T	0.07654	-1.0761	10	0.22109	T	0.4	-30.9545	13.6138	0.62094	0.0:0.0:0.719:0.281	.	1374;1374	Q8IWV8-4;Q8IWV8	.;UBR2_HUMAN	T	1374	ENSP00000361990:A1374T;ENSP00000361992:A1374T	ENSP00000361990:A1374T	A	+	1	0	UBR2	42749540	1.000000	0.71417	1.000000	0.80357	0.746000	0.42486	2.869000	0.48444	1.196000	0.43129	-0.314000	0.08810	GCA		0.353	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255		A	42641562	G	A	42641562	3	1	734	1	0	0	0	0	1	0	0	0	16907	1087	38	1	4412	1	UBR2	6	42641562	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	873894	42641562	128473505	312	41731											
CUL9	23113	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	6	43164505	43164505	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:43164505T>C	ENST00000252050.4	+	11	2792	c.2708T>C	c.(2707-2709)aTa>aCa	p.I903T	CUL9_ENST00000354495.3_Missense_Mutation_p.I793T|CUL9_ENST00000372647.2_Missense_Mutation_p.I903T	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	903					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CACTCAGGGATAGCACCAAGA	0.537																																																0													198	164	175					6																	43164505		2203	4300	6503	SO:0001583	missense	23113			AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"parkin-like cytoplasmic p53 binding protein", "p53-associated parkin-like cytoplasmic protein"	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.2708T>C	6.37:g.43164505T>C	ENSP00000252050:p.Ile903Thr		O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	37	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	T	12.31	1.898417	0.33535	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.72394	-0.65;-0.65;-0.54	5.08	3.86	0.44501	Armadillo-type fold (1);	1.226840	0.05326	N	0.527436	T	0.34221	0.0890	N	0.22421	0.69	0.09310	N	0.999999	B;B;B	0.33379	0.038;0.41;0.41	B;B;B	0.25614	0.006;0.062;0.062	T	0.11203	-1.0597	10	0.21014	T	0.42	-4.0112	9.0056	0.36109	0.0:0.0:0.1852:0.8148	.	793;903;903	Q8IWT3-3;E9PEZ1;Q8IWT3	.;.;CUL9_HUMAN	T	903;793;903	ENSP00000252050:I903T;ENSP00000346490:I793T;ENSP00000361730:I903T	ENSP00000252050:I903T	I	+	2	0	CUL9	43272483	0.127000	0.22367	0.848000	0.33437	0.492000	0.33523	2.030000	0.41108	2.146000	0.66826	0.533000	0.62120	ATA		0.537	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		C	43164505	T	C	43164505	3	2	734	1	0	0	0	0	1	0	0	0	4063	1406	49	3	2746	3	CUL9	6	43164505	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	522943	43164505	127950562	313	41732											
ZNF318	24149	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	6	43309889	43309889	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:43309889C>T	ENST00000361428.2	-	8	3414	c.3337G>A	c.(3337-3339)Gcc>Acc	p.A1113T	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1113					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)			CGCTTTATGGCATCTTGCTTG	0.468																																																0													229	182	198					6																	43309889		2203	4300	6503	SO:0001583	missense	24149			AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"Zinc fingers, C2H2-type"	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.3337G>A	6.37:g.43309889C>T	ENSP00000354964:p.Ala1113Thr		O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	37	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	C	9.480	1.097997	0.20552	.	.	ENSG00000171467	ENST00000361428	T	0.11495	2.77	5.9	-2.06	0.07298	.	0.784196	0.12292	N	0.481978	T	0.01800	0.0057	L	0.44542	1.39	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.47235	-0.9133	10	0.12103	T	0.63	-0.731	3.3182	0.07040	0.1321:0.2018:0.1162:0.5499	.	1113	Q5VUA4	ZN318_HUMAN	T	1113	ENSP00000354964:A1113T	ENSP00000354964:A1113T	A	-	1	0	ZNF318	43417867	0.015000	0.18098	0.354000	0.25760	0.924000	0.55760	0.041000	0.13927	-0.086000	0.12550	0.563000	0.77884	GCC		0.468	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		T	43309889	C	T	43309889	3	4	734	1	0	0	0	0	1	0	0	0	17841	710	25	2	3514	2	ZNF318	6	43309889	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	145384	43309889	127805178	314	41733											
ZNF318	24149	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	6	43323076	43323076	+	Missense_Mutation	SNP	C	C	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:43323076C>A	ENST00000361428.2	-	4	2073	c.1996G>T	c.(1996-1998)Gct>Tct	p.A666S	ZNF318_ENST00000318149.3_Missense_Mutation_p.A666S	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	666					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)			CGTCGATCAGCTGAGAAGCAG	0.547																																																0													152	118	130					6																	43323076		2203	4300	6503	SO:0001583	missense	24149			AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"Zinc fingers, C2H2-type"	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.1996G>T	6.37:g.43323076C>A	ENSP00000354964:p.Ala666Ser		O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	37	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	C	3.285	-0.146181	0.06627	.	.	ENSG00000171467	ENST00000318149;ENST00000361428	T;T	0.30714	1.52;2.82	3.9	-0.753	0.11068	.	0.375070	0.21947	N	0.066800	T	0.02888	0.0086	N	0.04508	-0.205	0.28921	N	0.892149	B	0.18166	0.026	B	0.16289	0.015	T	0.44922	-0.9296	10	0.07644	T	0.81	-0.7498	8.3459	0.32272	0.3916:0.5317:0.0:0.0767	.	666	Q5VUA4	ZN318_HUMAN	S	666	ENSP00000323032:A666S;ENSP00000354964:A666S	ENSP00000323032:A666S	A	-	1	0	ZNF318	43431054	0.995000	0.38212	0.978000	0.43139	0.717000	0.41224	0.646000	0.24797	0.026000	0.15269	0.306000	0.20318	GCT		0.547	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		A	43323076	C	A	43323076	3	1	734	1	0	0	0	0	1	0	0	0	17841	797	28	4	4871	4	ZNF318	6	43323076	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	13187	43323076	127791991	315	41734											
ABCC10	89845	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	6	43415467	43415467	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:43415467G>A	ENST00000372530.4	+	18	3966	c.3751G>A	c.(3751-3753)Gtg>Atg	p.V1251M	ABCC10_ENST00000244533.3_Missense_Mutation_p.V1223M	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1251	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)	GTTCCAGGACGTGGTGTTGGC	0.662																																																0													141	152	148					6																	43415467		2203	4300	6503	SO:0001583	missense	89845			U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"ATP binding cassette transporters / subfamily C"	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.3751G>A	6.37:g.43415467G>A	ENSP00000361608:p.Val1251Met		Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	G	33	5.204917	0.95033	.	.	ENSG00000124574	ENST00000372530;ENST00000244533;ENST00000443394	D;D	0.92446	-3.04;-3.04	5.61	5.61	0.85477	ABC transporter-like (1);	0.065822	0.64402	D	0.000010	D	0.95906	0.8667	M	0.79693	2.465	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.75020	0.985;0.866	D	0.95443	0.8527	10	0.56958	D	0.05	-37.1139	19.6398	0.95753	0.0:0.0:1.0:0.0	.	1223;1251	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	M	1251;1223;2	ENSP00000361608:V1251M;ENSP00000244533:V1223M	ENSP00000244533:V1223M	V	+	1	0	ABCC10	43523445	1.000000	0.71417	0.986000	0.45419	0.985000	0.73830	9.862000	0.99564	2.641000	0.89580	0.591000	0.81541	GTG		0.662	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		A	43415467	G	A	43415467	3	1	734	1	0	0	0	0	1	0	0	0	50	1145	40	1	3729	1	ABCC10	6	43415467	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	92391	43415467	127699600	316	41735											
SPATS1	221409	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	6	44329698	44329698	+	Silent	SNP	G	G	A	rs371949352		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:44329698G>A	ENST00000288390.2	+	4	890	c.543G>A	c.(541-543)acG>acA	p.T181T	RP11-444E17.6_ENST00000505802.1_3'UTR|SPATS1_ENST00000323108.8_Silent_p.T181T			Q496A3	SPAS1_HUMAN	spermatogenesis associated, serine-rich 1	181										NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1)	14	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CAGAGAGGACGGTGGACAAGT	0.498																																																0								G		2,4404	2.1+/-5.4	0,2,2201	188	181	183		543	-7.9	0.1	6		183	0,8600		0,0,4300	no	coding-synonymous	SPATS1	NM_145026.3		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		181/301	44329698	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	221409			AK058171	CCDS4911.1	6p21.1	2003-08-08			ENSG00000249481	ENSG00000249481			22957	protein-coding gene	gene with protein product							Standard	NM_145026		Approved	SPATA8, FLJ25442, SRSP1	uc021yzz.1	Q496A3	OTTHUMG00000014764	ENST00000288390.2:c.543G>A	6.37:g.44329698G>A			Q496A2|Q496A5|Q96LJ0	Silent	SNP	ENST00000288390.2	37	CCDS4911.1																																																																																				0.498	SPATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040738.2	NM_145026		A	44329698	G	A	44329698	2	1	734	1	0	0	0	0	0	0	0	1	15023	1103	39	1		1	SPATS1	6	44329698	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	914231	44329698	126785369	317	41736											
SUPT3H	8464	ucsc.edu;mdanderson.org;bcgsc.ca	37	6	45290634	45290634	+	Missense_Mutation	SNP	G	G	A	rs9472463	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:45290634G>A	ENST00000371460.1	-	3	337	c.20C>T	c.(19-21)aCg>aTg	p.T7M	SUPT3H_ENST00000371461.2_Missense_Mutation_p.T7M|SUPT3H_ENST00000371459.1_Intron|SUPT3H_ENST00000306867.5_Intron|SUPT3H_ENST00000459689.1_Intron	NM_181356.2	NP_852001.1	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog (S. cerevisiae)	0					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						GTTGAAGAACGTTGTTCCAAA	0.413													G|||	23	0.00459265	0.0008	0.0029	5008	,	,		16239	0.0		0.0179	False		,,,				2504	0.002															0								G	,MET/THR	16,4390	24.3+/-50.5	0,16,2187	108	95	99		,20	4.3	1	6	dbSNP_119	99	133,8467	67.0+/-129.4	1,131,4168	yes	intron,missense	SUPT3H	NM_003599.2,NM_181356.1	,81	1,147,6355	AA,AG,GG		1.5465,0.3631,1.1456	,	,7/329	45290634	149,12857	2203	4300	6503	SO:0001583	missense	8464			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.20C>T	6.37:g.45290634G>A	ENSP00000360515:p.Thr7Met		A6NKG9|B2R9Q5|O76066|Q5TAV9|Q86VN7	Missense_Mutation	SNP	ENST00000371460.1	37	CCDS34466.1	17	0.007783882783882784	1	0.0020325203252032522	2	0.0055248618784530384	0	0.0	14	0.018469656992084433	G	14.57	2.574496	0.45902	0.003631	0.015465	ENSG00000196284	ENST00000371460;ENST00000371461	T;T	0.48836	0.8;0.8	5.23	4.34	0.51931	.	1.633690	0.03317	N	0.191370	T	0.22044	0.0531	.	.	.	0.27760	N	0.94385	B	0.12013	0.005	B	0.14023	0.01	T	0.18398	-1.0338	9	0.87932	D	0	.	8.3299	0.32180	0.08:0.0:0.7657:0.1543	rs9472463;rs52806481;rs56415076;rs9472463	7	O75486-3	.	M	7	ENSP00000360515:T7M;ENSP00000360516:T7M	ENSP00000360515:T7M	T	-	2	0	SUPT3H	45398612	1.000000	0.71417	0.972000	0.41901	0.993000	0.82548	2.849000	0.48286	1.293000	0.44690	0.557000	0.71058	ACG		0.413	SUPT3H-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000106910.3	NM_181356		A	45290634	G	A	45290634	3	1	734	1	0	0	0	0	1	0	0	0	15402	1145	40	1	1010	1	SUPT3H	6	45290634	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	960936	45290634	125824433	318	41737											
RUNX2	860	mdanderson.org	37	6	45459753	45459753	+	Missense_Mutation	SNP	A	A	G	rs377128508		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:45459753A>G	ENST00000371438.1	+	5	1119	c.761A>G	c.(760-762)cAt>cGt	p.H254R	RUNX2_ENST00000541979.1_Missense_Mutation_p.H322R|RUNX2_ENST00000371432.3_Missense_Mutation_p.H240R|RUNX2_ENST00000465038.2_Missense_Mutation_p.H254R|RUNX2_ENST00000352853.5_Missense_Mutation_p.H322R|RUNX2_ENST00000371436.6_Missense_Mutation_p.H254R|RUNX2_ENST00000359524.5_Missense_Mutation_p.H240R|RUNX2_ENST00000576263.1_Missense_Mutation_p.H254R	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	254	Pro/Ser/Thr-rich.|Required for interaction with FOXO1. {ECO:0000250}.				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						CGCATTCCTCATCCCAGTATG	0.478																																																0								A	ARG/HIS,ARG/HIS,ARG/HIS	0,4406		0,0,2203	419	323	356		719,761,761	6	1	6		356	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	RUNX2	NM_004348.3,NM_001024630.3,NM_001015051.3	29,29,29	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign,benign,benign	240/508,254/522,254/500	45459753	1,13005	2203	4300	6503	SO:0001583	missense	860			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.761A>G	6.37:g.45459753A>G	ENSP00000360493:p.His254Arg		O14614|O14615|O95181	Missense_Mutation	SNP	ENST00000371438.1	37	CCDS43467.2	.	.	.	.	.	.	.	.	.	.	A	8.548	0.874842	0.17395	0.0	1.16E-4	ENSG00000124813	ENST00000465038;ENST00000352853;ENST00000541979;ENST00000371438;ENST00000371436;ENST00000359524;ENST00000371432	D;D;D;D;D;D;D	0.96745	-4.1;-4.11;-4.11;-4.1;-4.1;-4.09;-4.1	6.03	6.03	0.97812	.	0.054231	0.85682	D	0.000000	D	0.85414	0.5691	N	0.12182	0.205	0.49582	D	0.999807	B;B;B	0.19706	0.029;0.038;0.017	B;B;B	0.19946	0.027;0.01;0.009	T	0.82766	-0.0295	10	0.07644	T	0.81	-8.894	16.5655	0.84588	1.0:0.0:0.0:0.0	.	322;254;240	F6RGB9;Q13950;Q13950-2	.;RUNX2_HUMAN;.	R	254;322;322;254;254;240;240	ENSP00000420707:H254R;ENSP00000319087:H322R;ENSP00000446290:H322R;ENSP00000360493:H254R;ENSP00000360491:H254R;ENSP00000352514:H240R;ENSP00000360486:H240R	ENSP00000319087:H322R	H	+	2	0	RUNX2	45567731	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.414000	0.73318	2.302000	0.77476	0.533000	0.62120	CAT		0.478	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		G	45459753	A	G	45459753	3	3	734	1	0	0	0	0	1	0	0	0	13754	217	8	3	795	3	RUNX2	6	45459753	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	169119	45459753	125655314	319	41738											
PKHD1	5314	hgsc.bcm.edu;bcgsc.ca	37	6	51695719	51695719	+	Missense_Mutation	SNP	C	C	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:51695719C>A	ENST00000371117.3	-	52	8517	c.8242G>T	c.(8242-8244)Ggc>Tgc	p.G2748C	PKHD1_ENST00000340994.4_Missense_Mutation_p.G2748C	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2748	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)					CCTCCCCAGCCTTCTTCAACA	0.428																																																0													120	108	112					6																	51695719		2203	4300	6503	SO:0001583	missense	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.8242G>T	6.37:g.51695719C>A	ENSP00000360158:p.Gly2748Cys		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.850298	0.71719	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.88431	-2.2;-2.38	5.32	4.45	0.53987	G8 domain (1);	0.000000	0.64402	D	0.000001	D	0.91938	0.7447	M	0.72118	2.19	0.41357	D	0.987406	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.92929	0.6362	10	0.72032	D	0.01	.	13.2455	0.60020	0.0:0.9231:0.0:0.0769	.	2748;2748;2748	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	C	2748	ENSP00000360158:G2748C;ENSP00000341097:G2748C	ENSP00000341097:G2748C	G	-	1	0	PKHD1	51803678	1.000000	0.71417	0.853000	0.33588	0.989000	0.77384	5.161000	0.64935	1.220000	0.43490	0.655000	0.94253	GGC		0.428	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		A	51695719	C	A	51695719	3	1	734	1	0	0	0	0	1	0	0	0	11973	681	24	4	4085	4	PKHD1	6	51695719	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	6235966	51695719	119419348	320	41739											
TINAG	27283	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	6	54214609	54214609	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:54214609G>A	ENST00000259782.4	+	7	1091	c.995G>A	c.(994-996)cGg>cAg	p.R332Q		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	332					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)			CGAGGAAAACGGCATGCCACG	0.463																																																0													154	141	145					6																	54214609		2203	4300	6503	SO:0001583	missense	27283			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.995G>A	6.37:g.54214609G>A	ENSP00000259782:p.Arg332Gln		Q5T467|Q9UJW1|Q9ULZ4	Missense_Mutation	SNP	ENST00000259782.4	37	CCDS4955.1	.	.	.	.	.	.	.	.	.	.	G	33	5.241226	0.95272	.	.	ENSG00000137251	ENST00000339741;ENST00000259782;ENST00000370865	D	0.83992	-1.79	5.87	5.87	0.94306	Peptidase C1A, papain C-terminal (2);	0.166795	0.41712	D	0.000836	D	0.85626	0.5740	L	0.55103	1.725	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.80986	-0.1137	10	0.18710	T	0.47	.	17.7085	0.88315	0.0:0.0:1.0:0.0	.	332	Q9UJW2	TINAG_HUMAN	Q	191;332;11	ENSP00000259782:R332Q	ENSP00000259782:R332Q	R	+	2	0	TINAG	54322568	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	4.653000	0.61462	2.785000	0.95823	0.591000	0.81541	CGG		0.463	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040984.1	NM_014464		A	54214609	G	A	54214609	3	1	734	1	0	0	0	0	1	0	0	0	15926	1116	39	1	1021	1	TINAG	6	54214609	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	2518890	54214609	116900458	321	41740											
COL21A1	81578	broad.mit.edu	37	6	56044473	56044473	+	Silent	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:56044473A>G	ENST00000244728.5	-	3	940	c.543T>C	c.(541-543)gcT>gcC	p.A181A	COL21A1_ENST00000535941.1_Silent_p.A181A|COL21A1_ENST00000370819.1_Silent_p.A181A	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	181	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)			TGTTGGCAATAGCTCTAAGTT	0.383																																																0													88	82	84					6																	56044473		1907	4133	6040	SO:0001819	synonymous_variant	81578			AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"Collagens"	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.543T>C	6.37:g.56044473A>G			A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Silent	SNP	ENST00000244728.5	37	CCDS55025.1																																																																																				0.383	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2			G	56044473	A	G	56044473	2	3	734	1	0	0	0	0	0	0	0	1	3682	407	15	3		3	COL21A1	6	56044473	Silent	SNP	A	TCGA-KN-8428-01A-11D-2310-10	1829864	56044473	115070594	322	41741											
DST	667	broad.mit.edu	37	6	56335939	56335939	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:56335939G>A	ENST00000361203.3	-	90	21333	c.21326C>T	c.(21325-21327)aCg>aTg	p.T7109M	DST_ENST00000446842.2_Missense_Mutation_p.T6894M|DST_ENST00000370769.4_Missense_Mutation_p.T7220M|DST_ENST00000421834.2_Missense_Mutation_p.T5105M|DST_ENST00000244364.6_Missense_Mutation_p.T4806M|DST_ENST00000370754.5_Missense_Mutation_p.T7398M|DST_ENST00000370788.2_Missense_Mutation_p.T5023M|DST_ENST00000312431.6_3'UTR			Q03001	DYST_HUMAN	dystonin	7218					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)			TTCCTGCCGCGTTATTTTCCC	0.363																																																0													64	62	63					6																	56335939		1859	4129	5988	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.21326C>T	6.37:g.56335939G>A	ENSP00000354508:p.Thr7109Met		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		.	.	.	.	.	.	.	.	.	.	G	21.7	4.191243	0.78902	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81;-0.81;-0.81;-0.81	6.02	6.02	0.97574	EF-hand-like domain (1);	0.000000	0.56097	D	0.000029	D	0.90431	0.7004	H	0.95294	3.65	0.32881	D	0.510558	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;0.998	D	0.91704	0.5376	9	0.66056	D	0.02	.	20.5407	0.99260	0.0:0.0:1.0:0.0	.	5105;7220;7398;7218;4806	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	M	4806;7398;7220;5105;6894;5023;7109	ENSP00000244364:T4806M;ENSP00000359790:T7398M;ENSP00000359805:T7220M;ENSP00000400883:T5105M;ENSP00000393645:T6894M;ENSP00000359824:T5023M;ENSP00000354508:T7109M	ENSP00000244364:T4806M	T	-	2	0	DST	56443898	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	9.869000	0.99810	2.865000	0.98341	0.655000	0.94253	ACG		0.363	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		A	56335939	G	A	56335939	3	1	734	1	0	0	0	0	1	0	0	0	4785	1145	40	1	1134	1	DST	6	56335939	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	291466	56335939	114779128	323	41742											
PHIP	55023	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	6	79711796	79711796	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:79711796G>A	ENST00000275034.4	-	17	1866	c.1699C>T	c.(1699-1701)Cgt>Tgt	p.R567C		NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	567					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)		TTGGCATCACGAATAAGTGGC	0.373																																																0													118	109	112					6																	79711796		2203	4300	6503	SO:0001583	missense	55023			AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	15673	protein-coding gene	gene with protein product	"DDB1 and CUL4 associated factor 14"	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.1699C>T	6.37:g.79711796G>A	ENSP00000275034:p.Arg567Cys		A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000275034.4	37	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.471484	0.43942	.	.	ENSG00000146247	ENST00000275034	T	0.51071	0.72	5.63	4.76	0.60689	.	0.147419	0.48286	D	0.000199	T	0.67581	0.2908	M	0.91196	3.185	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	T	0.76454	-0.2953	9	.	.	.	-13.6584	13.1967	0.59743	0.0:0.0:0.7104:0.2896	.	567;567	A7J992;Q8WWQ0	.;PHIP_HUMAN	C	567	ENSP00000275034:R567C	.	R	-	1	0	PHIP	79768515	1.000000	0.71417	1.000000	0.80357	0.017000	0.09413	9.358000	0.97109	1.492000	0.48499	-0.175000	0.13238	CGT		0.373	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			A	79711796	G	A	79711796	3	1	734	1	0	0	0	0	1	0	0	0	11844	1058	37	1	3862	1	PHIP	6	79711796	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	23375857	79711796	91403271	324	41743											
TTK	7272	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	6	80749554	80749554	+	Missense_Mutation	SNP	G	G	A	rs2230512	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:80749554G>A	ENST00000369798.2	+	19	2383	c.2272G>A	c.(2272-2274)Gat>Aat	p.D758N	TTK_ENST00000509894.1_Missense_Mutation_p.D757N|TTK_ENST00000230510.3_Missense_Mutation_p.D757N	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	758	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		D -> N (in dbSNP:rs2230512).		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)	p.D742N(1)		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)		TGAATTTCCCGATATTCCAGA	0.269													G|||	11	0.00219649	0.0083	0.0	5008	,	,		12837	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	large_intestine(1)						G	ASN/ASP,ASN/ASP	45,4357	46.7+/-81.2	0,45,2156	54	54	54		2269,2272	4.9	1	6	dbSNP_98	54	0,8578		0,0,4289	yes	missense,missense	TTK	NM_001166691.1,NM_003318.4	23,23	0,45,6445	AA,AG,GG		0.0,1.0223,0.3467	benign,benign	757/857,758/858	80749554	45,12935	2201	4289	6490	SO:0001583	missense	7272				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.2272G>A	6.37:g.80749554G>A	ENSP00000358813:p.Asp758Asn		A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Missense_Mutation	SNP	ENST00000369798.2	37	CCDS4993.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	G	10.12	1.261975	0.23051	0.010223	0.0	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798	T;T;T	0.74209	-0.82;-0.82;-0.82	5.75	4.89	0.63831	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.132776	0.64402	D	0.000002	T	0.46776	0.1410	L	0.41824	1.3	0.49582	D	0.999806	B;P	0.34615	0.073;0.459	B;B	0.29716	0.023;0.106	T	0.50197	-0.8856	10	0.30078	T	0.28	.	9.9745	0.41774	0.153:0.0:0.847:0.0	rs2230512	758;757	P33981;A8K8U5	TTK_HUMAN;.	N	757;757;758	ENSP00000422936:D757N;ENSP00000230510:D757N;ENSP00000358813:D758N	ENSP00000230510:D757N	D	+	1	0	TTK	80806273	1.000000	0.71417	1.000000	0.80357	0.073000	0.16967	7.681000	0.84073	1.424000	0.47217	0.650000	0.86243	GAT		0.269	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2			A	80749554	G	A	80749554	3	1	734	1	0	0	0	0	1	0	0	0	16725	1058	37	1	2342	1	TTK	6	80749554	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1037758	80749554	90365513	325	41744											
SNX14	57231	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	6	86248557	86248557	+	Splice_Site	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:86248557G>A	ENST00000314673.3	-	16	1650	c.1474C>T	c.(1474-1476)Cgg>Tgg	p.R492W	SNX14_ENST00000505648.1_Splice_Site_p.R440W|SNX14_ENST00000346348.3_Intron|SNX14_ENST00000508980.1_Intron|SNX14_ENST00000369627.2_Intron|SNX14_ENST00000513865.1_Intron	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	492					protein transport (GO:0015031)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)	phosphatidylinositol binding (GO:0035091)			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		AAGACTTACCGAAAATCATCC	0.303																																																0													75	74	74					6																	86248557		2203	4298	6501	SO:0001630	splice_region_variant	57231			AF121863	CCDS5003.1, CCDS5004.1, CCDS75490.1	6q15	2008-10-22			ENSG00000135317	ENSG00000135317		"Sorting nexins"	14977	protein-coding gene	gene with protein product						11485546, 11736640	Standard	XM_005248738		Approved	RGS-PX2	uc003pkr.3	Q9Y5W7	OTTHUMG00000015140	ENST00000314673.3:c.1475+1C>T	6.37:g.86248557G>A			B4DI55|Q4VBR3|Q5TCF9|Q5TCG0|Q6NUI7|Q6PI37|Q9BSD1	Missense_Mutation	SNP	ENST00000314673.3	37	CCDS5004.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.533886	0.85812	.	.	ENSG00000135317	ENST00000314673;ENST00000505648	T;T	0.26660	1.72;1.76	5.86	5.86	0.93980	.	0.416196	0.28790	N	0.014139	T	0.31606	0.0802	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.03840	-1.0999	10	0.46703	T	0.11	-8.079	18.7712	0.91893	0.0:0.0:1.0:0.0	.	492;440	Q9Y5W7;Q9Y5W7-3	SNX14_HUMAN;.	W	492;440	ENSP00000313121:R492W;ENSP00000427380:R440W	ENSP00000313121:R492W	R	-	1	2	SNX14	86305276	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.878000	0.69682	2.771000	0.95319	0.563000	0.77884	CGG		0.303	SNX14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041393.2	NM_153816	Missense_Mutation	A	86248557	G	A	86248557	5	1	734	1	0	0	0	0	0	0	1	0	14891	1072	37	1	1422	1	SNX14	6	86248557	Splice_Site	SNP	G	TCGA-KN-8428-01A-11D-2310-10	5499003	86248557	84866510	326	41745											
C6orf165	154313	mdanderson.org;bcgsc.ca	37	6	88173817	88173817	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:88173817A>G	ENST00000507897.1	+	13	1801	c.1718A>G	c.(1717-1719)tAc>tGc	p.Y573C	C6ORF165_ENST00000369562.4_Missense_Mutation_p.Y573C|C6orf165_ENST00000506888.1_3'UTR			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	573										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)		TCCCAAGTGTACCCTCCAAAG	0.473																																																0													66	60	62					6																	88173817		2203	4300	6503	SO:0001583	missense	154313			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.1718A>G	6.37:g.88173817A>G	ENSP00000426769:p.Tyr573Cys		A8K969|E1P507|Q8N9U4	Missense_Mutation	SNP	ENST00000507897.1	37	CCDS34498.1	.	.	.	.	.	.	.	.	.	.	A	12.75	2.030745	0.35797	.	.	ENSG00000213204	ENST00000369562	T	0.37752	1.18	5.68	4.5	0.54988	.	0.165538	0.56097	D	0.000028	T	0.47340	0.1440	M	0.75447	2.3	0.52501	D	0.999955	D	0.89917	1.0	D	0.76071	0.987	T	0.50415	-0.8831	10	0.46703	T	0.11	.	12.0793	0.53662	0.871:0.0:0.0:0.129	.	573	Q8IYR0	CF165_HUMAN	C	573	ENSP00000358575:Y573C	ENSP00000358575:Y573C	Y	+	2	0	C6orf165	88230536	1.000000	0.71417	0.298000	0.25002	0.165000	0.22458	4.968000	0.63728	0.955000	0.37878	0.460000	0.39030	TAC		0.473	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000470406.1	NM_178823		G	88173817	A	G	88173817	3	3	734	1	0	0	0	0	1	0	0	0	2343	391	14	3	1764	3	C6orf165	6	88173817	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	1925260	88173817	82941250	327	41746											
CNR1	1268	broad.mit.edu	37	6	88853689	88853689	+	Silent	SNP	G	G	A	rs75641625	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:88853689G>A	ENST00000537554.1	-	2	4867	c.1305C>T	c.(1303-1305)caC>caT	p.H435H	CNR1_ENST00000535130.1_Silent_p.H435H|CNR1_ENST00000369499.2_Silent_p.H435H|CNR1_ENST00000428600.2_Silent_p.H435H|CNR1_ENST00000549716.1_Silent_p.H374H|CNR1_ENST00000369501.2_Silent_p.H435H|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000468898.1_Silent_p.H402H|CNR1_ENST00000549890.1_Silent_p.H435H	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	435					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)	CATTGTTTGCGTGTTTGTGCA	0.557																																																0								G	,,,,	1,4405	2.1+/-5.4	0,1,2202	200	180	187		1305,1305,1305,1305,1206	-8.8	0.1	6	dbSNP_131	187	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CNR1	NM_001160226.1,NM_001160258.1,NM_001160259.1,NM_016083.4,NM_033181.3	,,,,	0,7,6496	AA,AG,GG		0.0698,0.0227,0.0538	,,,,	435/473,435/473,435/473,435/473,402/440	88853689	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	1268			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.1305C>T	6.37:g.88853689G>A			B2R9T4|E1P512|Q13949|Q495Z0|Q4PLI4|Q4VBM6|Q5JVL5|Q5UB37|Q9UNN0	Silent	SNP	ENST00000537554.1	37	CCDS5015.1																																																																																				0.557	CNR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354204.2			A	88853689	G	A	88853689	2	1	734	1	0	0	0	0	0	0	0	1	3633	1136	40	1		1	CNR1	6	88853689	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	679872	88853689	82261378	328	41747											
ANKRD6	22881	hgsc.bcm.edu;ucsc.edu	37	6	90333671	90333671	+	Silent	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:90333671T>C	ENST00000522441.1	+	12	1754	c.1113T>C	c.(1111-1113)ccT>ccC	p.P371P	LYRM2_ENST00000520441.1_Intron|ANKRD6_ENST00000369408.5_Silent_p.P336P|ANKRD6_ENST00000447838.2_Silent_p.P371P|ANKRD6_ENST00000520793.1_Silent_p.P312P|ANKRD6_ENST00000339746.4_Silent_p.P371P	NM_001242811.1	NP_001229740.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	371					negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of JNK cascade (GO:0046330)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		ATAATCACCCTAAAAAGAGGA	0.537																																																0													101	106	105					6																	90333671		2078	4216	6294	SO:0001819	synonymous_variant	22881			AB023174	CCDS47460.1, CCDS56441.1, CCDS56442.1, CCDS56443.1	6q14.2-q16.1	2013-03-20			ENSG00000135299	ENSG00000135299		"Ankyrin repeat domain containing"	17280	protein-coding gene	gene with protein product		610583					Standard	NM_001242809		Approved	KIAA0957	uc003pni.4	Q9Y2G4	OTTHUMG00000015202	ENST00000522441.1:c.1113T>C	6.37:g.90333671T>C			B3KUC3|Q5JUJ4|Q5JUJ5|Q8IUQ8|Q9NU24|Q9UFQ9	Silent	SNP	ENST00000522441.1	37	CCDS56441.1																																																																																				0.537	ANKRD6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376594.1			C	90333671	T	C	90333671	2	2	734	1	0	0	0	0	0	0	0	1	685	1509	53	3		3	ANKRD6	6	90333671	Silent	SNP	T	TCGA-KN-8428-01A-11D-2310-10	1479982	90333671	80781396	329	41748											
BACH2	60468	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	6	90661558	90661558	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:90661558C>T	ENST00000257749.4	-	7	974	c.267G>A	c.(265-267)ccG>ccA	p.P89P	BACH2_ENST00000343122.3_Silent_p.P89P|BACH2_ENST00000537989.1_Silent_p.P89P|RP3-512E2.2_ENST00000445838.1_RNA|RP3-512E2.2_ENST00000413986.1_RNA	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	89	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					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)		ACTGTAACAGCGGCCCAAAGC	0.527																																																0													46	46	46					6																	90661558		2202	4297	6499	SO:0001819	synonymous_variant	60468			AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"BTB/POZ domain containing", "basic leucine zipper proteins"	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.267G>A	6.37:g.90661558C>T			E1P518|Q59H70|Q5T793|Q9NTS5	Silent	SNP	ENST00000257749.4	37	CCDS5026.1																																																																																				0.527	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041522.2	NM_021813		T	90661558	C	T	90661558	2	4	734	1	0	0	0	0	0	0	0	1	1284	755	27	1		1	BACH2	6	90661558	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	327887	90661558	80453509	330	41749											
MAP3K7	6885	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	6	91261815	91261815	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:91261815G>A	ENST00000369329.3	-	8	981	c.820C>T	c.(820-822)Cgc>Tgc	p.R274C	MAP3K7_ENST00000369320.1_5'UTR|MAP3K7_ENST00000369332.3_Missense_Mutation_p.R274C|MAP3K7_ENST00000369327.3_Missense_Mutation_p.R274C|MAP3K7_ENST00000369325.3_Missense_Mutation_p.R274C	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	274	Interaction with MAPK8IP1. {ECO:0000250}.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|Fc-epsilon receptor signaling pathway (GO:0038095)|histone H3 acetylation (GO:0043966)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|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 apoptotic signaling pathway (GO:2001234)|negative regulation of ripoptosome assembly involved in necroptotic process (GO:1902443)|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 I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|regulation of reactive oxygen species metabolic process (GO:2000377)|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)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		ATTGAAGGGCGCTGGGAAGGA	0.413																																																0													125	121	122					6																	91261815		2203	4300	6503	SO:0001583	missense	6885			AB009356	CCDS5027.1, CCDS5028.1, CCDS5029.1, CCDS5030.1	6q15	2011-06-09			ENSG00000135341	ENSG00000135341		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6859	protein-coding gene	gene with protein product		602614		TAK1		9466656	Standard	NM_003188		Approved	MEKK7	uc003pnz.2	O43318	OTTHUMG00000015217	ENST00000369329.3:c.820C>T	6.37:g.91261815G>A	ENSP00000358335:p.Arg274Cys		B2RE27|E1P523|O43317|O43319|Q5TDN2|Q5TDN3|Q5TDT7|Q9NTR3|Q9NZ70	Missense_Mutation	SNP	ENST00000369329.3	37	CCDS5028.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.400848	0.83120	.	.	ENSG00000135341	ENST00000369332;ENST00000369329;ENST00000369325;ENST00000369327;ENST00000450832	T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01	5.76	5.76	0.90799	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.109878	0.64402	D	0.000005	D	0.93288	0.7861	H	0.99668	4.69	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.95357	0.8452	10	0.87932	D	0	.	15.1047	0.72312	0.0:0.0:0.8584:0.1416	.	274;274;274;274	O43318-4;O43318-2;O43318-3;O43318	.;.;.;M3K7_HUMAN	C	274;274;274;274;201	ENSP00000358338:R274C;ENSP00000358335:R274C;ENSP00000358331:R274C;ENSP00000358333:R274C	ENSP00000358331:R274C	R	-	1	0	MAP3K7	91318536	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.607000	0.54102	2.880000	0.98712	0.650000	0.86243	CGC		0.413	MAP3K7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041530.1	NM_145331		A	91261815	G	A	91261815	3	1	734	1	0	0	0	0	1	0	0	0	9257	1087	38	1	1040	1	MAP3K7	6	91261815	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	600257	91261815	79853252	331	41750											
PRDM1	639	broad.mit.edu;mdanderson.org	37	6	106553250	106553250	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:106553250G>A	ENST00000369096.4	+	5	1449	c.1215G>A	c.(1213-1215)tcG>tcA	p.S405S	PRDM1_ENST00000369091.2_Silent_p.S369S|PRDM1_ENST00000369089.3_Silent_p.S271S	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	405					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)		TCATCCCCTCGTACAACGCTC	0.582			"D, N, Mis, F, S"		DLBCL																																		Rec	yes		6	6q21	639	"PR domain containing 1, with ZNF domain"		L	0													85	63	71					6																	106553250		2203	4300	6503	SO:0001819	synonymous_variant	639				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.1215G>A	6.37:g.106553250G>A			B2REA6|E1P5E0|Q86WM7	Silent	SNP	ENST00000369096.4	37	CCDS5054.2																																																																																				0.582	PRDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041661.3			A	106553250	G	A	106553250	2	1	734	1	0	0	0	0	0	0	0	1	12455	1132	40	1		1	PRDM1	6	106553250	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	15291435	106553250	64561817	332	41751											
AIM1	202	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	6	107000090	107000090	+	Splice_Site	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:107000090A>G	ENST00000369066.3	+	13	4734	c.4247A>G	c.(4246-4248)cAg>cGg	p.Q1416R	AIM1_ENST00000535438.1_Splice_Site_p.Q235R|AIM1_ENST00000487681.1_3'UTR	NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					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(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AGACGAAATCAGGTAACttta	0.328																																																0													15	16	16					6																	107000090		2186	4259	6445	SO:0001630	splice_region_variant	202			U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"suppression of tumorigenicity 4", "beta-gamma crystallin domain containing 1"	601797	"suppression of tumorigenicity 4 (malignant melanoma)"	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.4248+1A>G	6.37:g.107000090A>G			Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	A	15.84	2.951320	0.53186	.	.	ENSG00000112297	ENST00000369066;ENST00000457437;ENST00000535438	T;T;T	0.74842	-0.88;-0.88;-0.88	5.53	5.53	0.82687	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.482215	0.19530	N	0.112062	T	0.49064	0.1535	N	0.16790	0.44	0.41292	D	0.986988	B;B	0.22683	0.011;0.073	B;B	0.25987	0.024;0.065	T	0.55573	-0.8120	10	0.62326	D	0.03	.	13.6978	0.62591	1.0:0.0:0.0:0.0	.	235;1416	B4DU04;Q9Y4K1	.;AIM1_HUMAN	R	1416;235;235	ENSP00000358062:Q1416R;ENSP00000391419:Q235R;ENSP00000439183:Q235R	ENSP00000358062:Q1416R	Q	+	2	0	AIM1	107106783	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	2.853000	0.48317	2.226000	0.72624	0.460000	0.39030	CAG		0.328	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1		Missense_Mutation	G	107000090	A	G	107000090	5	3	734	1	0	0	0	0	0	0	1	0	430	202	7	3	4297	3	AIM1	6	107000090	Splice_Site	SNP	A	TCGA-KN-8428-01A-11D-2310-10	446840	107000090	64114977	333	41752											
SCML4	256380	bcgsc.ca	37	6	108042039	108042039	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:108042039C>T	ENST00000369020.3	-	6	1086	c.841G>A	c.(841-843)Ggt>Agt	p.G281S	SCML4_ENST00000369022.2_Missense_Mutation_p.G223S|SCML4_ENST00000479803.1_5'UTR|SCML4_ENST00000369021.3_Missense_Mutation_p.G252S|SCML4_ENST00000369025.2_Missense_Mutation_p.G39S	NM_198081.3	NP_932347.2	Q8N228	SCML4_HUMAN	sex comb on midleg-like 4 (Drosophila)	281					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		GCAGGACCACCCCCAAGGTGG	0.662																																																0													43	50	48					6																	108042039		2203	4300	6503	SO:0001583	missense	256380				CCDS5060.2, CCDS69163.1, CCDS75500.1	6q21	2013-01-10			ENSG00000146285	ENSG00000146285		"Sterile alpha motif (SAM) domain containing"	21397	protein-coding gene	gene with protein product							Standard	NM_001286409		Approved	dJ47M23.1	uc010kdf.3	Q8N228	OTTHUMG00000015313	ENST00000369020.3:c.841G>A	6.37:g.108042039C>T	ENSP00000358016:p.Gly281Ser		B0QZ10|B0QZ11|B7ZBX3|Q5JXD0|Q5T0T6|Q8IYY6	Missense_Mutation	SNP	ENST00000369020.3	37	CCDS5060.2	.	.	.	.	.	.	.	.	.	.	C	11.44	1.639946	0.29157	.	.	ENSG00000146285	ENST00000369022;ENST00000369025;ENST00000369020;ENST00000369021	T;T;T	0.44881	0.98;0.97;0.91	5.19	2.27	0.28462	.	0.436668	0.25349	N	0.031310	T	0.36936	0.0985	L	0.56769	1.78	0.45464	D	0.99843	D;B;D	0.76494	0.993;0.027;0.999	P;B;D	0.68943	0.751;0.016;0.961	T	0.42207	-0.9465	10	0.07644	T	0.81	.	11.4501	0.50147	0.0:0.7746:0.0:0.2254	.	281;281;252	B4E0X3;Q8N228;Q8N228-3	.;SCML4_HUMAN;.	S	223;39;281;252	ENSP00000358018:G223S;ENSP00000358016:G281S;ENSP00000358017:G252S	ENSP00000358016:G281S	G	-	1	0	SCML4	108148732	0.909000	0.30893	0.119000	0.21687	0.410000	0.31052	1.673000	0.37534	0.785000	0.33685	-0.133000	0.14855	GGT		0.662	SCML4-005	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000041700.3	XM_171128		T	108042039	C	T	108042039	3	4	734	1	0	0	0	0	1	0	0	0	13917	623	22	2	415	2	SCML4	6	108042039	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1041949	108042039	63073028	334	41753											
MICAL1	64780	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	6	109766433	109766433	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:109766433C>T	ENST00000358807.3	-	22	3159	c.2848G>A	c.(2848-2850)Gtg>Atg	p.V950M	MICAL1_ENST00000368952.4_Missense_Mutation_p.V969M|MICAL1_ENST00000358577.3_Missense_Mutation_p.V864M	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	950					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)		TCCAGCTTCACGCCCTCGGCC	0.572																																																0													59	58	58					6																	109766433		2203	4300	6503	SO:0001583	missense	64780			AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"NEDD9 interacting protein with calponin homology and LIM domains"	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.2848G>A	6.37:g.109766433C>T	ENSP00000351664:p.Val950Met		B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Missense_Mutation	SNP	ENST00000358807.3	37	CCDS5076.1	.	.	.	.	.	.	.	.	.	.	C	4.389	0.071791	0.08436	.	.	ENSG00000135596	ENST00000358807;ENST00000368952;ENST00000358577;ENST00000368957;ENST00000335266	T;T;T	0.56444	0.46;0.46;0.46	5.4	-3.89	0.04193	Domain of unknown function DUF3585 (1);	0.908073	0.09419	N	0.804763	T	0.16214	0.0390	N	0.20328	0.56	0.09310	N	1	B;B;B	0.19817	0.039;0.014;0.015	B;B;B	0.16289	0.015;0.006;0.015	T	0.33727	-0.9857	10	0.54805	T	0.06	.	11.5325	0.50618	0.0:0.4014:0.0:0.5986	.	969;864;950	B7Z3R5;Q8TDZ2-2;Q8TDZ2	.;.;MICA1_HUMAN	M	950;969;864;474;206	ENSP00000351664:V950M;ENSP00000357948:V969M;ENSP00000351385:V864M	ENSP00000335372:V206M	V	-	1	0	MICAL1	109873126	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-0.133000	0.10451	-0.701000	0.05063	-0.793000	0.03317	GTG		0.572	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	NM_022765		T	109766433	C	T	109766433	3	4	734	1	0	0	0	0	1	0	0	0	9571	536	19	1	371	1	MICAL1	6	109766433	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1724394	109766433	61348634	335	41754											
MICAL1	64780	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	6	109769510	109769510	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:109769510G>A	ENST00000358807.3	-	13	2062	c.1751C>T	c.(1750-1752)cCg>cTg	p.P584L	MICAL1_ENST00000368952.4_Missense_Mutation_p.P603L|MICAL1_ENST00000358577.3_Missense_Mutation_p.P498L	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	584	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				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)		AGACACCACCGGTGTGATGCC	0.607																																																0													173	161	165					6																	109769510		2203	4300	6503	SO:0001583	missense	64780			AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"NEDD9 interacting protein with calponin homology and LIM domains"	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.1751C>T	6.37:g.109769510G>A	ENSP00000351664:p.Pro584Leu		B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Missense_Mutation	SNP	ENST00000358807.3	37	CCDS5076.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.872109	0.91587	.	.	ENSG00000135596	ENST00000358807;ENST00000368952;ENST00000358577;ENST00000368957	T;T;T	0.59638	0.25;0.25;0.25	5.38	5.38	0.77491	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	T	0.71728	0.3374	M	0.74647	2.275	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.999;1.0	T	0.75077	-0.3445	10	0.72032	D	0.01	.	16.6283	0.84992	0.0:0.0:1.0:0.0	.	603;498;584	B7Z3R5;Q8TDZ2-2;Q8TDZ2	.;.;MICA1_HUMAN	L	584;603;498;108	ENSP00000351664:P584L;ENSP00000357948:P603L;ENSP00000351385:P498L	ENSP00000351385:P498L	P	-	2	0	MICAL1	109876203	1.000000	0.71417	0.689000	0.30133	0.870000	0.49936	6.142000	0.71750	2.529000	0.85273	0.561000	0.74099	CCG		0.607	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	NM_022765		A	109769510	G	A	109769510	3	1	734	1	0	0	0	0	1	0	0	0	9571	1116	39	1	1504	1	MICAL1	6	109769510	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	3077	109769510	61345557	336	41755											
NCOA7	135112	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	6	126210643	126210643	+	Silent	SNP	G	G	A	rs375161871		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:126210643G>A	ENST00000368357.3	+	10	1795	c.1443G>A	c.(1441-1443)gcG>gcA	p.A481A	NCOA7_ENST00000392477.2_Silent_p.A481A|NCOA7_ENST00000229634.9_Silent_p.A366A	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	481					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		TGAAGGGGGCGCTAGATTTAG	0.453													G|||	1	0.000199681	0.0	0.0	5008	,	,		17339	0.0		0.0	False		,,,				2504	0.001															0								G	,,,,	1,4397	2.1+/-5.4	0,1,2198	54	57	56		1410,1443,1443,1098,1443	0.4	0.5	6		56	0,8596		0,0,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NCOA7	NM_001122842.2,NM_001199619.1,NM_001199620.1,NM_001199621.1,NM_181782.4	,,,,	0,1,6496	AA,AG,GG		0.0,0.0227,0.0077	,,,,	470/932,481/943,481/943,366/828,481/943	126210643	1,12993	2199	4298	6497	SO:0001819	synonymous_variant	135112			AJ420542	CCDS5132.1, CCDS56448.1	6q22.33	2013-03-14			ENSG00000111912	ENSG00000111912			21081	protein-coding gene	gene with protein product	"TBC/LysM-associated domain containing 4"	609752				11971969	Standard	NM_001199619		Approved	ERAP140, dJ187J11.3, TLDC4	uc003qai.3	Q8NI08	OTTHUMG00000015513	ENST00000368357.3:c.1443G>A	6.37:g.126210643G>A			B2RNS2|B7Z2C4|B9EH71|G8JL91|Q3LID6|Q4G0V1|Q5TF95|Q6IPQ4|Q6NE83|Q86T89|Q8N1W4	Silent	SNP	ENST00000368357.3	37	CCDS5132.1																																																																																				0.453	NCOA7-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042083.4	XM_059748		A	126210643	G	A	126210643	2	1	734	1	0	0	0	0	0	0	0	1	10236	1074	38	1		1	NCOA7	6	126210643	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	16441133	126210643	44904424	337	41756											
KIAA1244	57221	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	6	138655393	138655393	+	Missense_Mutation	SNP	G	G	A	rs201470794		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:138655393G>A	ENST00000251691.4	+	33	5576	c.5410G>A	c.(5410-5412)Gcc>Acc	p.A1804T		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)		CGGGGGCGCCGCCAACCTCTA	0.557																																																0													25	25	25					6																	138655393		2203	4300	6503	SO:0001583	missense	57221			AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	21213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 33"		"chromosome 6 open reading frame 92"	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.5410G>A	6.37:g.138655393G>A	ENSP00000251691:p.Ala1804Thr			Missense_Mutation	SNP	ENST00000251691.4	37	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	G	32	5.179957	0.94846	.	.	ENSG00000112379	ENST00000251691	T	0.33216	1.42	5.23	5.23	0.72850	.	0.354096	0.32518	N	0.005989	T	0.43678	0.1258	L	0.52573	1.65	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.25363	-1.0134	10	0.46703	T	0.11	-25.0529	18.8012	0.92018	0.0:0.0:1.0:0.0	.	1804	Q5TH69	BIG3_HUMAN	T	1804	ENSP00000251691:A1804T	ENSP00000251691:A1804T	A	+	1	0	KIAA1244	138697086	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	9.787000	0.99055	2.452000	0.82932	0.411000	0.27672	GCC		0.557	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		A	138655393	G	A	138655393	3	1	734	1	0	0	0	0	1	0	0	0	8219	1087	38	1	5540	1	KIAA1244	6	138655393	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	12444750	138655393	32459674	338	41757											
STXBP5	134957	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	6	147527114	147527114	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:147527114G>A	ENST00000321680.6	+	2	158	c.158G>A	c.(157-159)cGc>cAc	p.R53H	STXBP5-AS1_ENST00000427394.1_RNA|STXBP5_ENST00000367481.3_Missense_Mutation_p.R53H|STXBP5_ENST00000546097.1_Missense_Mutation_p.R53H|STXBP5_ENST00000179882.6_5'UTR|STXBP5_ENST00000367480.3_Missense_Mutation_p.R53H|STXBP5-AS1_ENST00000367477.3_RNA	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	53					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)	p.R53H(2)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		TAGACTGTTCGCCATGGATTT	0.463																																																2	Substitution - Missense(2)	endometrium(2)											172	154	160					6																	147527114		2203	4300	6503	SO:0001583	missense	134957			AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"WD repeat domain containing"	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.158G>A	6.37:g.147527114G>A	ENSP00000321826:p.Arg53His		Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Missense_Mutation	SNP	ENST00000321680.6	37	CCDS47499.1	.	.	.	.	.	.	.	.	.	.	G	37	6.027106	0.97216	.	.	ENSG00000164506	ENST00000367481;ENST00000546097;ENST00000321680;ENST00000367480	D;D;D;D	0.95918	-3.85;-3.85;-3.85;-3.85	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.97266	0.9106	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.77004	0.989;0.968	D	0.95799	0.8831	10	0.42905	T	0.14	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	53;53	Q5T5C0-2;Q5T5C0	.;STXB5_HUMAN	H	53	ENSP00000356451:R53H;ENSP00000441479:R53H;ENSP00000321826:R53H;ENSP00000356450:R53H	ENSP00000321826:R53H	R	+	2	0	STXBP5	147568807	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.238000	0.95380	2.941000	0.99782	0.655000	0.94253	CGC		0.463	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1			A	147527114	G	A	147527114	3	1	734	1	0	0	0	0	1	0	0	0	15361	1087	38	1	164	1	STXBP5	6	147527114	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	8871721	147527114	23587953	339	41758											
TIAM2	26230	broad.mit.edu;ucsc.edu;mdanderson.org	37	6	155450720	155450720	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:155450720C>T	ENST00000461783.3	+	6	1636	c.363C>T	c.(361-363)caC>caT	p.H121H	TIAM2_ENST00000529824.2_Silent_p.H121H|TIAM2_ENST00000456144.1_Silent_p.H121H|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000360366.4_Silent_p.H121H|TIAM2_ENST00000318981.5_Silent_p.H121H			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	121					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)		CTGTTGGCCACGAGCTGGCAG	0.562																																																0													75	63	67					6																	155450720		2203	4300	6503	SO:0001819	synonymous_variant	26230				CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.363C>T	6.37:g.155450720C>T			B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Silent	SNP	ENST00000461783.3	37	CCDS34558.1																																																																																				0.562	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		T	155450720	C	T	155450720	2	4	734	1	0	0	0	0	0	0	0	1	15896	535	19	1		1	TIAM2	6	155450720	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	7923606	155450720	15664347	340	41759											
NOX3	50508	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	6	155764489	155764489	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:155764489G>A	ENST00000159060.2	-	5	506	c.404C>T	c.(403-405)gCc>gTc	p.A135V		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	135	Ferric oxidoreductase.				detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		AAGTCCCTGGGCCTCCTCGGA	0.577																																																0													104	87	93					6																	155764489		2203	4300	6503	SO:0001583	missense	50508			AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.404C>T	6.37:g.155764489G>A	ENSP00000159060:p.Ala135Val		Q9HBJ9	Missense_Mutation	SNP	ENST00000159060.2	37	CCDS5250.1	.	.	.	.	.	.	.	.	.	.	G	2.828	-0.243237	0.05906	.	.	ENSG00000074771	ENST00000159060	D	0.95554	-3.74	5.52	3.71	0.42584	Flavoprotein transmembrane component (1);	0.203527	0.34555	N	0.003879	D	0.84247	0.5430	L	0.43152	1.355	0.09310	N	1	B	0.14012	0.009	B	0.12156	0.007	T	0.71849	-0.4468	10	0.15952	T	0.53	-6.1288	9.0805	0.36550	0.074:0.0:0.7802:0.1458	.	135	Q9HBY0	NOX3_HUMAN	V	135	ENSP00000159060:A135V	ENSP00000159060:A135V	A	-	2	0	NOX3	155806181	0.009000	0.17119	0.003000	0.11579	0.032000	0.12392	1.563000	0.36364	0.666000	0.31087	0.561000	0.74099	GCC		0.577	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1			A	155764489	G	A	155764489	3	1	734	1	0	0	0	0	1	0	0	0	10559	1203	42	2	1338	2	NOX3	6	155764489	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	313769	155764489	15350578	341	41760											
PARK2	5071	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	6	162206903	162206903	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:162206903C>T	ENST00000366898.1	-	7	874	c.772G>A	c.(772-774)Gtg>Atg	p.V258M	PARK2_ENST00000366896.1_Missense_Mutation_p.V109M|PARK2_ENST00000366894.1_Missense_Mutation_p.V67M|PARK2_ENST00000366897.1_Missense_Mutation_p.V230M|PARK2_ENST00000338468.3_Missense_Mutation_p.V67M|PARK2_ENST00000366892.1_Missense_Mutation_p.V258M	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	258	SYT11 binding 2.				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)		AAGCAAATCACGTGGCGGGAG	0.512																																																0			GRCh37	CM056034	PARK2	M							88	76	80					6																	162206903		2203	4300	6503	SO:0001583	missense	5071				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.772G>A	6.37:g.162206903C>T	ENSP00000355865:p.Val258Met		A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Missense_Mutation	SNP	ENST00000366898.1	37	CCDS5281.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.767302	0.90020	.	.	ENSG00000185345	ENST00000366898;ENST00000366897;ENST00000366896;ENST00000366894;ENST00000338468;ENST00000392134;ENST00000366892;ENST00000366895	D;D;D;D;D;D	0.90133	-2.62;-2.62;-2.62;-2.62;-2.62;-2.62	5.75	5.75	0.90469	.	0.000000	0.64402	D	0.000001	D	0.95252	0.8460	M	0.83953	2.67	0.49051	D	0.999746	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;0.994;0.988;0.988;0.971	D	0.95119	0.8245	10	0.62326	D	0.03	.	17.7106	0.88321	0.0:1.0:0.0:0.0	.	258;109;230;258;67	O60260-5;Q5VVX3;Q5VVX4;O60260;Q8NI42	.;.;.;PRKN2_HUMAN;.	M	258;230;109;67;67;67;258;179	ENSP00000355865:V258M;ENSP00000355863:V230M;ENSP00000355862:V109M;ENSP00000355860:V67M;ENSP00000343589:V67M;ENSP00000355858:V258M	ENSP00000343589:V67M	V	-	1	0	PARK2	162126893	1.000000	0.71417	0.992000	0.48379	0.981000	0.71138	6.554000	0.73923	2.717000	0.92951	0.650000	0.86243	GTG		0.512	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042995.1			T	162206903	C	T	162206903	3	4	734	1	0	0	0	0	1	0	0	0	11451	536	19	1	649	1	PARK2	6	162206903	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	6442414	162206903	8908164	342	41761											
TMEM184A	202915	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	7	1588279	1588279	+	Silent	SNP	G	G	A	rs368580121		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:1588279G>A	ENST00000297477.5	-	7	1006	c.690C>T	c.(688-690)tcC>tcT	p.S230S	TMEM184A_ENST00000449955.1_5'Flank	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	230					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)		CGAGGCTGACGGAGGCGTTGT	0.637																																																0								G		3,4397	6.2+/-15.9	0,3,2197	119	150	139		690	-10.2	0	7		139	0,8598		0,0,4299	no	coding-synonymous	TMEM184A	NM_001097620.1		0,3,6496	AA,AG,GG		0.0,0.0682,0.0231		230/414	1588279	3,12995	2200	4299	6499	SO:0001819	synonymous_variant	202915				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.690C>T	7.37:g.1588279G>A			Q8TBQ6	Silent	SNP	ENST00000297477.5	37	CCDS43537.1																																																																																				0.637	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239229.4	NM_152689		A	1588279	G	A	1588279	2	1	734	1	0	0	0	0	0	0	0	1	16109	1103	39	1		1	TMEM184A	7	1588279	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10		1588279	157550384	343	41762											
KIAA0415	9907	broad.mit.edu	37	7	4830934	4830934	+	Missense_Mutation	SNP	G	G	A	rs375090264		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:4830934G>A	ENST00000348624.4	+	17	2436	c.2342G>A	c.(2341-2343)cGc>cAc	p.R781H	MIR4656_ENST00000579503.1_RNA|AP5Z1_ENST00000490487.1_3'UTR	NM_014855.2	NP_055670.1	O43299	AP5Z1_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	781					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)											CGCTATCACCGCGATGCCAAC	0.687																																																0													23	29	27					7																	4830934		2136	4206	6342	SO:0001583	missense	9907			AB007875	CCDS47528.1	7p22.1	2012-03-20	2012-03-20	2012-03-20	ENSG00000242802	ENSG00000242802			22197	protein-coding gene	gene with protein product		613653	"KIAA0415"	KIAA0415		20613862, 22022230	Standard	NM_014855		Approved	SPG48, zeta	uc003sne.3	O43299	OTTHUMG00000151754	ENST00000348624.4:c.2342G>A	7.37:g.4830934G>A	ENSP00000297562:p.Arg781His		Q8N3X2|Q96H80	Missense_Mutation	SNP	ENST00000348624.4	37	CCDS47528.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.858165	0.51376	.	.	ENSG00000242802	ENST00000348624	T	0.51817	0.69	5.13	1.97	0.26223	.	.	.	.	.	T	0.57577	0.2063	M	0.72894	2.215	0.38297	D	0.942867	D;D	0.76494	0.999;0.999	P;P	0.60068	0.818;0.868	T	0.60900	-0.7171	9	0.49607	T	0.09	.	6.9415	0.24496	0.2252:0.0:0.6337:0.1411	.	1492;781	A4D1Z4;O43299	.;K0415_HUMAN	H	781	ENSP00000297562:R781H	ENSP00000297562:R781H	R	+	2	0	KIAA0415	4797460	1.000000	0.71417	0.676000	0.29932	0.005000	0.04900	3.440000	0.52886	1.104000	0.41587	0.655000	0.94253	CGC		0.687	AP5Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323771.1			A	4830934	G	A	4830934	3	1	734	1	0	0	0	0	1	0	0	0	8177	1087	38	1	2408	1	KIAA0415	7	4830934	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	3242655	4830934	154307729	344	41763											
RADIL	55698	mdanderson.org	37	7	4876100	4876100	+	Silent	SNP	G	G	A	rs138811640	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:4876100G>A	ENST00000399583.3	-	3	859	c.672C>T	c.(670-672)aaC>aaT	p.N224N	RADIL_ENST00000538469.1_De_novo_Start_OutOfFrame|RADIL_ENST00000536091.1_Silent_p.N224N	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	224					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)		p.N224N(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)		CGGGCAGGGCGTTCACTGGGC	0.721													G|||	60	0.0119808	0.0015	0.0173	5008	,	,		12942	0.0		0.0249	False		,,,				2504	0.0215															1	Substitution - coding silent(1)	lung(1)						G		16,4162		0,16,2073	11	18	16		672	0.3	0.1	7	dbSNP_134	16	205,8153		6,193,3980	no	coding-synonymous	RADIL	NM_018059.4		6,209,6053	AA,AG,GG		2.4527,0.383,1.7629		224/1076	4876100	221,12315	2089	4179	6268	SO:0001819	synonymous_variant	55698			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.672C>T	7.37:g.4876100G>A			A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Silent	SNP	ENST00000399583.3	37	CCDS43544.1																																																																																				0.721	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059		A	4876100	G	A	4876100	2	1	734	1	0	0	0	0	0	0	0	1	13003	1136	40	1		1	RADIL	7	4876100	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	45166	4876100	154262563	345	41764											
CYTH3	9265	broad.mit.edu;mdanderson.org	37	7	6217521	6217521	+	Missense_Mutation	SNP	C	C	T	rs555480535		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:6217521C>T	ENST00000350796.3	-	5	437	c.301G>A	c.(301-303)Gtc>Atc	p.V101I	Y_RNA_ENST00000458975.1_RNA	NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN	cytohesin 3	101	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				establishment of epithelial cell polarity (GO:0090162)|Golgi vesicle transport (GO:0048193)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						AACTGGGCGACGTCTTCTGGG	0.458													C|||	1	0.000199681	0.0	0.0	5008	,	,		19725	0.0		0.0	False		,,,				2504	0.001															0													127	120	122					7																	6217521		2203	4300	6503	SO:0001583	missense	9265			AJ223957	CCDS5346.1	7p22.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000008256	ENSG00000008256		"Pleckstrin homology (PH) domain containing"	9504	protein-coding gene	gene with protein product		605081	"pleckstrin homology, Sec7 and coiled-coil domains 3"	PSCD3		9072969	Standard	NM_004227		Approved	GRP1, ARNO3, cytohesin-3	uc003spt.3	O43739	OTTHUMG00000023440	ENST00000350796.3:c.301G>A	7.37:g.6217521C>T	ENSP00000297044:p.Val101Ile		A4D2N8	Missense_Mutation	SNP	ENST00000350796.3	37	CCDS5346.1	.	.	.	.	.	.	.	.	.	.	C	5.917	0.353326	0.11182	.	.	ENSG00000008256	ENST00000350796	T	0.56611	0.45	5.16	4.03	0.46877	.	0.098253	0.64402	N	0.000003	T	0.22044	0.0531	N	0.05351	-0.065	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.30534	-0.9975	10	0.02654	T	1	.	3.7502	0.08563	0.0:0.651:0.0:0.349	.	101	O43739-2	.	I	101	ENSP00000297044:V101I	ENSP00000297044:V101I	V	-	1	0	CYTH3	6184046	1.000000	0.71417	0.145000	0.22337	0.748000	0.42578	4.901000	0.63259	2.559000	0.86315	0.655000	0.94253	GTC		0.458	CYTH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207396.2	NM_004227		T	6217521	C	T	6217521	3	4	734	1	0	0	0	0	1	0	0	0	4207	536	19	1	934	1	CYTH3	7	6217521	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1341421	6217521	152921142	346	41765											
COL28A1	340267	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	7	7472278	7472278	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:7472278G>A	ENST00000399429.3	-	24	2054	c.1914C>T	c.(1912-1914)ggC>ggT	p.G638G		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	638					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)		CACCAGGATAGCCATCACCTT	0.488																																																0													109	113	112					7																	7472278		2006	4166	6172	SO:0001819	synonymous_variant	340267			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.1914C>T	7.37:g.7472278G>A			A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Silent	SNP	ENST00000399429.3	37	CCDS43553.1																																																																																				0.488	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315899.1	NM_001037763		A	7472278	G	A	7472278	2	1	734	1	0	0	0	0	0	0	0	1	3688	958	34	2		2	COL28A1	7	7472278	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1254757	7472278	151666385	347	41766											
DGKB	1607	broad.mit.edu	37	7	14620499	14620499	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:14620499G>A	ENST00000403951.2	-	19	2019	c.1600C>T	c.(1600-1602)Cga>Tga	p.R534*	DGKB_ENST00000402815.1_Nonsense_Mutation_p.R533*|DGKB_ENST00000406247.3_Nonsense_Mutation_p.R534*|DGKB_ENST00000258767.5_Nonsense_Mutation_p.R534*|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000399322.3_Nonsense_Mutation_p.R534*|DGKB_ENST00000444700.2_Nonsense_Mutation_p.R515*|DGKB_ENST00000407950.1_Nonsense_Mutation_p.R526*			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	534	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				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)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						CCTCCCCATCGCAGGCATCTT	0.428																																																0													81	76	78					7																	14620499		1957	4172	6129	SO:0001587	stop_gained	1607			AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"EF-hand domain containing"	2850	protein-coding gene	gene with protein product		604070	"diacylglycerol kinase, beta (90kD)"	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.1600C>T	7.37:g.14620499G>A	ENSP00000385780:p.Arg534*		A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Nonsense_Mutation	SNP	ENST00000403951.2	37	CCDS47547.1	.	.	.	.	.	.	.	.	.	.	G	38	7.162631	0.98107	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247	.	.	.	5.77	4.82	0.62117	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.4202	0.49976	0.0:0.0:0.6084:0.3916	.	.	.	.	X	534;534;534;533;526;515;534	.	ENSP00000258767:R534X	R	-	1	2	DGKB	14587024	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.030000	0.70903	2.718000	0.92993	0.591000	0.81541	CGA		0.428	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080		A	14620499	G	A	14620499	4	1	734	1	0	0	0	0	0	1	0	0	4468	1095	38	1	861	1	DGKB	7	14620499	Nonsense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	7148221	14620499	144518164	348	41767											
HDAC9	9734	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	7	18975462	18975462	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:18975462C>T	ENST00000432645.2	+	22	2825	c.2825C>T	c.(2824-2826)aCa>aTa	p.T942I	HDAC9_ENST00000406451.4_Missense_Mutation_p.T942I|HDAC9_ENST00000401921.1_Missense_Mutation_p.T901I|HDAC9_ENST00000441542.2_Missense_Mutation_p.T945I	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	942	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|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 deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CAATTGATGACATTGGCTGAT	0.398																																																0													219	216	217					7																	18975462		1964	4149	6113	SO:0001583	missense	9734			AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.2825C>T	7.37:g.18975462C>T	ENSP00000410337:p.Thr942Ile		A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	ENST00000432645.2	37	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.315918	0.40996	.	.	ENSG00000048052	ENST00000406451;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000341009	T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48	5.81	4.85	0.62838	Histone deacetylase domain (2);	0.304559	0.27951	N	0.017190	T	0.68293	0.2985	L	0.48642	1.525	0.45015	D	0.998035	B;B;B;B;B	0.31625	0.332;0.006;0.006;0.007;0.006	B;B;B;B;B	0.43889	0.435;0.003;0.003;0.005;0.003	T	0.68047	-0.5512	10	0.49607	T	0.09	-40.5538	6.7135	0.23290	0.2865:0.6219:0.0:0.0916	.	190;901;945;942;942	Q8N926;Q9UKV0-6;Q9UKV0-7;Q9UKV0;Q9UKV0-5	.;.;.;HDAC9_HUMAN;.	I	942;901;942;945;854	ENSP00000384657:T942I;ENSP00000383912:T901I;ENSP00000410337:T942I;ENSP00000408617:T945I	ENSP00000339165:T854I	T	+	2	0	HDAC9	18941987	0.996000	0.38824	0.981000	0.43875	0.984000	0.73092	3.150000	0.50662	2.739000	0.93911	0.563000	0.77884	ACA		0.398	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			T	18975462	C	T	18975462	3	4	734	1	0	0	0	0	1	0	0	0	7016	478	17	2	3033	2	HDAC9	7	18975462	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	4354963	18975462	140163201	349	41768											
ABCB5	340273	hgsc.bcm.edu;mdanderson.org	37	7	20778687	20778687	+	Silent	SNP	G	G	A	rs369991802		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:20778687G>A	ENST00000404938.2	+	24	3601	c.2949G>A	c.(2947-2949)tcG>tcA	p.S983S	ABCB5_ENST00000258738.6_Silent_p.S538S	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	983					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)	p.S538S(1)|p.S983S(1)		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						AAGCCAAATCGGGGGCTGCGC	0.428																																																2	Substitution - coding silent(2)	lung(2)						G	,	0,4406		0,0,2203	54	52	52		2949,1614	-3.3	1	7		52	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ABCB5	NM_001163941.1,NM_178559.5	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	983/1258,538/813	20778687	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	340273			U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"ATP binding cassette transporters / subfamily B"	46	protein-coding gene	gene with protein product	"P-glycoprotein ABCB5", "ATP-binding cassette protein"	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.2949G>A	7.37:g.20778687G>A			A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Silent	SNP	ENST00000404938.2	37	CCDS55090.1																																																																																				0.428	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		A	20778687	G	A	20778687	2	1	734	1	0	0	0	0	0	0	0	1	44	1103	39	1		1	ABCB5	7	20778687	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1803225	20778687	138359976	350	41769											
C7orf46	340277	hgsc.bcm.edu;ucsc.edu	37	7	23724139	23724139	+	Silent	SNP	A	A	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:23724139A>T	ENST00000344962.4	+	2	176	c.87A>T	c.(85-87)ggA>ggT	p.G29G	FAM221A_ENST00000409653.1_Intron|FAM221A_ENST00000409994.3_Intron|FAM221A_ENST00000409192.3_Silent_p.G29G	NM_199136.3	NP_954587.2	A4D161	F221A_HUMAN	family with sequence similarity 221, member A	29																	AGGATGATGGAGGGAAACTTT	0.363																																																0													58	60	59					7																	23724139		2203	4300	6503	SO:0001819	synonymous_variant	340277				CCDS5385.1, CCDS47561.1, CCDS47562.1, CCDS75570.1	7p15.3	2012-04-02	2012-04-02	2012-04-02	ENSG00000188732	ENSG00000188732			27977	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 46"	C7orf46		12477932	Standard	XR_242080		Approved	FLJ45875, MGC72075, DKFZp686F0810	uc003swo.4	A4D161	OTTHUMG00000128463	ENST00000344962.4:c.87A>T	7.37:g.23724139A>T			Q05CG4|Q4G0Q7|Q6P519	Silent	SNP	ENST00000344962.4	37	CCDS5385.1																																																																																				0.363	FAM221A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250261.1	NM_199136		T	23724139	A	T	23724139	2	4	734	1	0	0	0	0	0	0	0	1	2398	291	11	5		5	C7orf46	7	23724139	Silent	SNP	A	TCGA-KN-8428-01A-11D-2310-10	2945452	23724139	135414524	351	41770											
GARS	2617	broad.mit.edu;ucsc.edu;mdanderson.org	37	7	30662010	30662010	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:30662010G>A	ENST00000389266.3	+	12	1786	c.1545G>A	c.(1543-1545)gtG>gtA	p.V515V		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	515					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|glycyl-tRNA aminoacylation (GO:0006426)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|glycine-tRNA ligase activity (GO:0004820)|protein dimerization activity (GO:0046983)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	CAAAACTGGTGATGGAGTATC	0.403																																																0													213	199	204					7																	30662010		1943	4157	6100	SO:0001819	synonymous_variant	2617			AK074524	CCDS43564.1	7p15	2014-09-17	2004-02-13		ENSG00000106105	ENSG00000106105	6.1.1.14	"Aminoacyl tRNA synthetases / Class II"	4162	protein-coding gene	gene with protein product	"glycine tRNA ligase"	600287	"Charcot-Marie-Tooth neuropathy 2D"	CMT2D		8595897, 8872480	Standard	NM_002047		Approved	GlyRS, DSMAV, SMAD1	uc003tbm.3	P41250	OTTHUMG00000152769	ENST00000389266.3:c.1545G>A	7.37:g.30662010G>A			B3KQA2|B4DIA0|Q969Y1	Silent	SNP	ENST00000389266.3	37	CCDS43564.1																																																																																				0.403	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327735.1	NM_002047		A	30662010	G	A	30662010	2	1	734	1	0	0	0	0	0	0	0	1	6244	1277	45	2		2	GARS	7	30662010	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	6937871	30662010	128476653	352	41771											
AQP1	358	ucsc.edu;mdanderson.org	37	7	30951659	30951659	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:30951659G>A	ENST00000311813.4	+	1	190	c.135G>A	c.(133-135)gcG>gcA	p.A45A	AQP1_ENST00000509504.1_Silent_p.A222A|AQP1_ENST00000434909.2_Silent_p.A105A	NM_198098.2	NP_932766.1	P29972	AQP1_HUMAN	aquaporin 1 (Colton blood group)	45			A -> V (in Co(A-B+) antigen; dbSNP:rs28362692). {ECO:0000269|PubMed:7521882, ECO:0000269|Ref.6}.	A -> T (in Ref. 10; AAH22486). {ECO:0000305}.	ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|bicarbonate transport (GO:0015701)|camera-type eye morphogenesis (GO:0048593)|carbon dioxide transmembrane transport (GO:0035378)|carbon dioxide transport (GO:0015670)|cation transmembrane transport (GO:0098655)|cell volume homeostasis (GO:0006884)|cellular homeostasis (GO:0019725)|cellular hyperosmotic response (GO:0071474)|cellular response to cAMP (GO:0071320)|cellular response to copper ion (GO:0071280)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to inorganic substance (GO:0071241)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mercury ion (GO:0071288)|cellular response to nitric oxide (GO:0071732)|cellular response to retinoic acid (GO:0071300)|cellular response to salt stress (GO:0071472)|cellular response to stress (GO:0033554)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|cGMP biosynthetic process (GO:0006182)|corticotropin secretion (GO:0051458)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|glomerular filtration (GO:0003094)|glycerol transport (GO:0015793)|hyperosmotic salinity response (GO:0042538)|lateral ventricle development (GO:0021670)|lipid digestion (GO:0044241)|maintenance of symbiont-containing vacuole by host (GO:0085018)|metanephric descending thin limb development (GO:0072220)|metanephric glomerulus vasculature development (GO:0072239)|metanephric proximal convoluted tubule segment 2 development (GO:0072232)|metanephric proximal straight tubule development (GO:0072230)|multicellular organismal water homeostasis (GO:0050891)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|nitric oxide transport (GO:0030185)|odontogenesis (GO:0042476)|pancreatic juice secretion (GO:0030157)|positive regulation of angiogenesis (GO:0045766)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of saliva secretion (GO:0046878)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|renal water absorption (GO:0070295)|renal water transport (GO:0003097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|secretory granule organization (GO:0033363)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)|transepithelial water transport (GO:0035377)|transmembrane transport (GO:0055085)|water transport (GO:0006833)|wound healing (GO:0042060)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|axon terminus (GO:0043679)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|symbiont-containing vacuole (GO:0020003)	ammonium transmembrane transporter activity (GO:0008519)|carbon dioxide transmembrane transporter activity (GO:0035379)|glycerol transmembrane transporter activity (GO:0015168)|intracellular cGMP activated cation channel activity (GO:0005223)|nitric oxide transmembrane transporter activity (GO:0030184)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)|transmembrane transporter activity (GO:0022857)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			kidney(1)|large_intestine(2)|lung(9)	12		Melanoma(862;0.16)			Acetazolamide(DB00819)	ACCAGACGGCGGTCCAGGACA	0.647																																																0													48	50	49					7																	30951659		2203	4300	6503	SO:0001819	synonymous_variant	358			M77829	CCDS5431.1, CCDS55096.1, CCDS55097.1, CCDS55098.1	7p14	2014-07-19	2014-01-02		ENSG00000240583	ENSG00000240583		"Ion channels / Aquaporins", "Blood group antigens"	633	protein-coding gene	gene with protein product		107776	"Colton blood group", "aquaporin 1 (channel-forming integral protein, 28kDa)", "aquaporin 1 (channel-forming integral protein, 28kDa, CO blood group)", "aquaporin 1"	CO		1722319, 3166547	Standard	NM_198098		Approved	CHIP28		P29972	OTTHUMG00000023944	ENST00000311813.4:c.135G>A	7.37:g.30951659G>A			B5BU39|E7EM69|E9PC21|F5GY19|Q8TBI5|Q8TDC1	Silent	SNP	ENST00000311813.4	37	CCDS5431.1																																																																																				0.647	AQP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215002.3	NM_000385		A	30951659	G	A	30951659	2	1	734	1	0	0	0	0	0	0	0	1	821	1103	39	1		1	AQP1	7	30951659	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	289649	30951659	128187004	353	41772											
BMPER	168667	broad.mit.edu;bcgsc.ca	37	7	34006162	34006162	+	Missense_Mutation	SNP	C	C	T	rs374945016		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:34006162C>T	ENST00000297161.2	+	5	765	c.391C>T	c.(391-393)Cgc>Tgc	p.R131C	BMPER_ENST00000426693.1_Missense_Mutation_p.R131C	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	131	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TTGTGTTCTACGCCAGTGCCA	0.448																																																0								C	CYS/ARG	0,4406		0,0,2203	71	72	72		391	5.9	1	7		72	1,8599	1.2+/-3.3	0,1,4299	no	missense	BMPER	NM_133468.3	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	131/686	34006162	1,13005	2203	4300	6503	SO:0001583	missense	168667				CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"crossveinless-2"	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.391C>T	7.37:g.34006162C>T	ENSP00000297161:p.Arg131Cys		A8K1P8|Q8TF36	Missense_Mutation	SNP	ENST00000297161.2	37	CCDS5442.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.584504	0.46110	0.0	1.16E-4	ENSG00000164619	ENST00000297161;ENST00000426693	T;T	0.32272	1.46;1.46	5.87	5.87	0.94306	von Willebrand factor, type C (1);	0.696787	0.15764	N	0.245769	T	0.10723	0.0262	N	0.00560	-1.38	0.38776	D	0.954666	B	0.24882	0.113	B	0.12156	0.007	T	0.29941	-0.9995	10	0.37606	T	0.19	.	13.8324	0.63389	0.0:0.9214:0.0:0.0786	.	131	Q8N8U9	BMPER_HUMAN	C	131	ENSP00000297161:R131C;ENSP00000393950:R131C	ENSP00000297161:R131C	R	+	1	0	BMPER	33972687	0.235000	0.23794	0.957000	0.39632	0.979000	0.70002	2.342000	0.43992	2.780000	0.95670	0.655000	0.94253	CGC		0.448	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250570.2	NM_133468		T	34006162	C	T	34006162	3	4	734	1	0	0	0	0	1	0	0	0	1468	536	19	1	405	1	BMPER	7	34006162	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	3054503	34006162	125132501	354	41773											
URGCP	55665	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	7	43917672	43917672	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:43917672C>T	ENST00000453200.1	-	6	1883	c.1390G>A	c.(1390-1392)Gag>Aag	p.E464K	URGCP_ENST00000443736.1_Missense_Mutation_p.E421K|URGCP_ENST00000447717.3_Missense_Mutation_p.E421K|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000402306.3_Missense_Mutation_p.E455K|URGCP_ENST00000336086.6_Missense_Mutation_p.E421K|URGCP_ENST00000223341.7_Missense_Mutation_p.E421K|URGCP-MRPS24_ENST00000603700.1_Intron			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	464					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						TCACAGTCCTCGTCGACCTTT	0.587																																																0													128	135	133					7																	43917672		2041	4188	6229	SO:0001583	missense	55665				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.1390G>A	7.37:g.43917672C>T	ENSP00000396918:p.Glu464Lys		E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Missense_Mutation	SNP	ENST00000453200.1	37	CCDS47578.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.170495	0.78452	.	.	ENSG00000106608	ENST00000223341;ENST00000336086;ENST00000402306;ENST00000443736;ENST00000453200;ENST00000447717	T;T;T;T;T;T	0.14766	2.51;2.51;2.48;2.51;2.48;2.51	5.79	5.79	0.91817	.	0.100474	0.64402	D	0.000004	T	0.42381	0.1200	M	0.84082	2.675	0.39491	D	0.968051	D;D	0.89917	1.0;1.0	D;D	0.71414	0.973;0.973	T	0.42032	-0.9475	10	0.87932	D	0	-43.3797	17.5201	0.87784	0.0:1.0:0.0:0.0	.	455;464	Q8TCY9-2;Q8TCY9	.;URGCP_HUMAN	K	421;421;455;421;464;421	ENSP00000223341:E421K;ENSP00000336872:E421K;ENSP00000384955:E455K;ENSP00000392136:E421K;ENSP00000396918:E464K;ENSP00000402803:E421K	ENSP00000223341:E421K	E	-	1	0	URGCP	43884197	0.999000	0.42202	0.967000	0.41034	0.729000	0.41735	4.298000	0.59067	2.735000	0.93741	0.655000	0.94253	GAG		0.587	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338995.1	NM_001077664		T	43917672	C	T	43917672	3	4	734	1	0	0	0	0	1	0	0	0	17031	893	31	1	1409	1	URGCP	7	43917672	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	9911510	43917672	115220991	355	41774											
POLM	27434	mdanderson.org	37	7	44121936	44121936	+	Silent	SNP	C	C	A	rs3218655	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:44121936C>A	ENST00000242248.5	-	1	203	c.102G>T	c.(100-102)ctG>ctT	p.L34L	POLM_ENST00000395831.3_Silent_p.L34L|POLM_ENST00000335195.6_Silent_p.L34L	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	34	BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						GAGGCTCGACCAGGTAGATGG	0.736								DNA polymerases (catalytic subunits)					C|||	853	0.170327	0.2163	0.1844	5008	,	,		9905	0.1111		0.1491	False		,,,				2504	0.181															0								C		772,3464		79,614,1425	7	8	8		102	4.4	1	7	dbSNP_106	8	995,7359		69,857,3251	no	coding-synonymous	POLM	NM_013284.2		148,1471,4676	AA,AC,CC		11.9105,18.2247,14.0349		34/495	44121936	1767,10823	2118	4177	6295	SO:0001819	synonymous_variant	27434			AF176097	CCDS34625.1, CCDS64635.1, CCDS64636.1	7p13	2012-05-18			ENSG00000122678	ENSG00000122678		"DNA polymerases"	9185	protein-coding gene	gene with protein product	"Pol iota"	606344				10982892	Standard	XM_005249708		Approved	Tdt-N	uc003tjt.3	Q9NP87	OTTHUMG00000155353	ENST00000242248.5:c.102G>T	7.37:g.44121936C>A			D3DVK4|Q6P5X8|Q86WQ9	Silent	SNP	ENST00000242248.5	37	CCDS34625.1																																																																																				0.736	POLM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339594.1	NM_013284		A	44121936	C	A	44121936	2	1	734	1	0	0	0	0	0	0	0	1	12208	581	21	4		4	POLM	7	44121936	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	204264	44121936	115016727	356	41775											
NPC1L1	29881	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	7	44579467	44579467	+	Missense_Mutation	SNP	C	C	T	rs149017550	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:44579467C>T	ENST00000289547.4	-	2	584	c.529G>A	c.(529-531)Gtc>Atc	p.V177I	NPC1L1_ENST00000381160.3_Missense_Mutation_p.V177I|NPC1L1_ENST00000546276.1_Missense_Mutation_p.V177I|NPC1L1_ENST00000423141.1_Missense_Mutation_p.V177I	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	177					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)	GCTGCAGGGACGCGCACACGG	0.622													C|||	10	0.00199681	0.0	0.0	5008	,	,		20278	0.0		0.0099	False		,,,				2504	0.0															0								C	ILE/VAL,ILE/VAL	1,4405		0,1,2202	56	50	52		529,529	-0.2	0.9	7	dbSNP_134	52	51,8549		0,51,4249	yes	missense,missense	NPC1L1	NM_001101648.1,NM_013389.2	29,29	0,52,6451	TT,TC,CC		0.593,0.0227,0.3998	benign,benign	177/1333,177/1360	44579467	52,12954	2203	4300	6503	SO:0001583	missense	29881				CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"NPC1 (Niemann-Pick disease, type C1, gene)-like 1"			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.529G>A	7.37:g.44579467C>T	ENSP00000289547:p.Val177Ile		A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	ENST00000289547.4	37	CCDS5491.1	9	0.004120879120879121	0	0.0	0	0.0	0	0.0	9	0.011873350923482849	N	0.005	-2.221995	0.00283	2.27E-4	0.00593	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276;ENST00000423141	D;D;D;D	0.90385	-2.66;-2.66;-2.66;-2.66	5.04	-0.208	0.13185	.	0.337134	0.29868	N	0.010994	T	0.57154	0.2034	N	0.00595	-1.35	0.09310	N	0.999999	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	0.60707	-0.7210	10	0.23891	T	0.37	-27.144	5.2314	0.15424	0.0:0.3359:0.1498:0.5143	.	177;177;177;177	B7ZLE6;Q9UHC9-3;Q17RV5;D3DVK9	.;.;.;.	I	177	ENSP00000289547:V177I;ENSP00000370552:V177I;ENSP00000438033:V177I;ENSP00000404670:V177I	ENSP00000289547:V177I	V	-	1	0	NPC1L1	44545992	0.285000	0.24296	0.873000	0.34254	0.021000	0.10359	0.124000	0.15728	-0.265000	0.09352	-0.505000	0.04504	GTC		0.622	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		T	44579467	C	T	44579467	3	4	734	1	0	0	0	0	1	0	0	0	10573	536	19	1	3626	1	NPC1L1	7	44579467	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	457531	44579467	114559196	357	41776											
UPP1	7378	broad.mit.edu	37	7	48134391	48134391	+	Missense_Mutation	SNP	C	C	T	rs11971829	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:48134391C>T	ENST00000331803.4	+	4	634	c.11C>T	c.(10-12)aCg>aTg	p.T4M	UPP1_ENST00000429491.2_5'UTR|UPP1_ENST00000341253.4_Missense_Mutation_p.T4M|UPP1_ENST00000482015.1_3'UTR|UPP1_ENST00000395564.4_Missense_Mutation_p.T4M			Q16831	UPP1_HUMAN	uridine phosphorylase 1	4					cellular response to glucose starvation (GO:0042149)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide catabolic process (GO:0009166)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)|uridine metabolic process (GO:0046108)	cytosol (GO:0005829)	uridine phosphorylase activity (GO:0004850)			breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18					Fluorouracil(DB00544)	ATGGCGGCCACGGGAGCCAAT	0.498													C|||	6	0.00119808	0.0038	0.0014	5008	,	,		16453	0.0		0.0	False		,,,				2504	0.0															0								C	MET/THR,MET/THR	20,4386	26.2+/-53.5	0,20,2183	107	93	97		11,11	1.4	0	7	dbSNP_120	97	0,8600		0,0,4300	yes	missense,missense	UPP1	NM_003364.2,NM_181597.1	81,81	0,20,6483	TT,TC,CC		0.0,0.4539,0.1538	possibly-damaging,possibly-damaging	4/311,4/311	48134391	20,12986	2203	4300	6503	SO:0001583	missense	7378			AK096167	CCDS5507.1	7p12.3	2012-10-02	2003-08-28	2003-08-29	ENSG00000183696	ENSG00000183696	2.4.2.3		12576	protein-coding gene	gene with protein product		191730	"uridine phosphorylase"	UP		752472, 11807789	Standard	NM_003364		Approved	UPASE, UPP, UDRPASE	uc003toj.3	Q16831	OTTHUMG00000129253	ENST00000331803.4:c.11C>T	7.37:g.48134391C>T	ENSP00000330032:p.Thr4Met		D3DVM4|Q15362	Missense_Mutation	SNP	ENST00000331803.4	37	CCDS5507.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	C	3.804	-0.041115	0.07452	0.004539	0.0	ENSG00000183696	ENST00000416681;ENST00000331803;ENST00000432131;ENST00000341253;ENST00000395564;ENST00000436673	T;T;T;T;T	0.46451	0.87;0.89;0.89;0.89;0.87	3.23	1.37	0.22104	.	2.685510	0.01278	N	0.009653	T	0.15696	0.0378	N	0.04508	-0.205	0.23023	N	0.998416	B;B	0.26081	0.141;0.081	B;B	0.10450	0.005;0.003	T	0.15694	-1.0428	10	0.48119	T	0.1	0.0042	3.8331	0.08882	0.2382:0.6327:0.0:0.1291	rs11971829;rs11971829	4;4	B4DND0;Q16831	.;UPP1_HUMAN	M	4	ENSP00000405209:T4M;ENSP00000330032:T4M;ENSP00000342878:T4M;ENSP00000378931:T4M;ENSP00000390118:T4M	ENSP00000330032:T4M	T	+	2	0	UPP1	48100916	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.120000	0.10660	0.374000	0.24650	-0.181000	0.13052	ACG		0.498	UPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251360.1	NM_003364		T	48134391	C	T	48134391	3	4	734	1	0	0	0	0	1	0	0	0	17017	536	19	1	13	1	UPP1	7	48134391	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	3554924	48134391	111004272	358	41777											
LAT2	7462	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	7	73630393	73630393	+	Missense_Mutation	SNP	C	C	T	rs369438020		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:73630393C>T	ENST00000460943.1	+	3	977	c.88C>T	c.(88-90)Cgc>Tgc	p.R30C	LAT2_ENST00000398475.1_Missense_Mutation_p.R30C|LAT2_ENST00000344995.5_Missense_Mutation_p.R30C|LAT2_ENST00000275635.7_Missense_Mutation_p.R30C	NM_032464.2	NP_115853.2	Q9UHI5	LAT2_HUMAN	linker for activation of T cells family, member 2	0					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|metal ion homeostasis (GO:0055065)|neutral amino acid transport (GO:0015804)|organic cation transport (GO:0015695)|response to toxic substance (GO:0009636)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|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)|organic cation transmembrane transporter activity (GO:0015101)|peptide antigen binding (GO:0042605)|toxin transporter activity (GO:0019534)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6					L-Alanine(DB00160)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	GCGCTGCTCACGCCCAGGTAA	0.647													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18325	0.0		0.0	False		,,,				2504	0.0															0								C	CYS/ARG,CYS/ARG,CYS/ARG	0,4308		0,0,2154	36	45	42		88,88,88	3.5	0.7	7		42	2,8488		0,2,4243	no	missense,missense,missense	LAT2	NM_014146.3,NM_032463.2,NM_032464.2	180,180,180	0,2,6397	TT,TC,CC		0.0236,0.0,0.0156	probably-damaging,probably-damaging,probably-damaging	30/244,30/244,30/244	73630393	2,12796	2154	4245	6399	SO:0001583	missense	7462			AF257135	CCDS5566.2	7q11.23	2011-11-01	2005-04-26	2005-04-26	ENSG00000086730	ENSG00000086730			12749	protein-coding gene	gene with protein product	"linker for activation of B cells", "non-T cell activation linker", "linker for activation of T cells, transmembrane adaptor 2"	605719	"Williams-Beuren syndrome chromosome region 5"	WBSCR15, WBSCR5		8812460, 12514734	Standard	NM_032464		Approved	WSCR5, HSPC046, LAB, NTAL	uc003uai.3	Q9GZY6	OTTHUMG00000130151	ENST00000460943.1:c.88C>T	7.37:g.73630393C>T	ENSP00000420494:p.Arg30Cys		B2R8Q4|B4DKT4|B4DTV6|D3DS46|F2Z2J4|Q86U05|Q9UKQ6|Q9UKQ7|Q9UKQ8|Q9Y445	Missense_Mutation	SNP	ENST00000460943.1	37	CCDS5566.2	.	.	.	.	.	.	.	.	.	.	C	16.13	3.036763	0.54896	0.0	2.36E-4	ENSG00000086730	ENST00000465116;ENST00000344995;ENST00000460943;ENST00000475494;ENST00000398475;ENST00000361082;ENST00000275635;ENST00000470709	T;T;T;T;T;T;T;T	0.09911	2.93;2.93;2.93;2.93;2.93;2.93;2.93;2.93	3.49	3.49	0.39957	.	0.403035	0.18670	N	0.134471	T	0.19565	0.0470	L	0.32530	0.975	0.40535	D	0.98096	D	0.89917	1.0	D	0.69654	0.965	T	0.01360	-1.1375	10	0.66056	D	0.02	-10.4302	10.7933	0.46445	0.0:1.0:0.0:0.0	.	30	Q9GZY6	NTAL_HUMAN	C	30	ENSP00000420549:R30C;ENSP00000344881:R30C;ENSP00000420494:R30C;ENSP00000417533:R30C;ENSP00000381492:R30C;ENSP00000354374:R30C;ENSP00000275635:R30C;ENSP00000419150:R30C	ENSP00000275635:R30C	R	+	1	0	LAT2	73268329	0.967000	0.33354	0.740000	0.30986	0.478000	0.33099	1.466000	0.35310	2.256000	0.74724	0.561000	0.74099	CGC		0.647	LAT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277062.1			T	73630393	C	T	73630393	3	4	734	1	0	0	0	0	1	0	0	0	8647	536	19	1	90	1	LAT2	7	73630393	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	25496002	73630393	85508270	359	41778											
POR	5447	ucsc.edu;mdanderson.org;bcgsc.ca	37	7	75608803	75608803	+	Missense_Mutation	SNP	C	C	T	rs562750402		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:75608803C>T	ENST00000461988.1	+	4	377	c.272C>T	c.(271-273)aCg>aTg	p.T91M	POR_ENST00000439269.1_5'Flank|POR_ENST00000419840.1_5'UTR|POR_ENST00000475509.1_3'UTR|POR_ENST00000450476.1_5'Flank|POR_ENST00000545601.1_5'Flank|POR_ENST00000394893.1_Missense_Mutation_p.T91M	NM_000941.2	NP_000932.3	P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase	88	Flavodoxin-like. {ECO:0000255|PROSITE- ProRule:PRU00088}.				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)	GGCTCCCAGACGGGGACTGCA	0.617																																																0													42	51	48					7																	75608803		2093	4208	6301	SO:0001583	missense	5447			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	ENST00000461988.1:c.272C>T	7.37:g.75608803C>T	ENSP00000419970:p.Thr91Met		Q16455|Q197M5|Q8N181|Q9H3M8|Q9UDT3	Missense_Mutation	SNP	ENST00000461988.1	37	CCDS5579.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.616300	0.87359	.	.	ENSG00000127948	ENST00000453773;ENST00000439963;ENST00000461988;ENST00000394893;ENST00000412521;ENST00000414186;ENST00000432753;ENST00000426184	T;T;T;T;T;T;T;T	0.80653	-1.4;-1.4;-1.4;-1.4;-1.4;-1.4;-1.4;-1.4	3.78	3.78	0.43462	.	0.000000	0.85682	D	0.000000	D	0.91513	0.7320	M	0.92604	3.325	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93741	0.7050	10	0.87932	D	0	-35.3056	15.1594	0.72771	0.0:1.0:0.0:0.0	.	97	Q59ED7	.	M	91;91;91;91;91;91;91;44	ENSP00000395813:T91M;ENSP00000390540:T91M;ENSP00000419970:T91M;ENSP00000378355:T91M;ENSP00000409238:T91M;ENSP00000399327:T91M;ENSP00000389409:T91M;ENSP00000400964:T44M	ENSP00000378355:T91M	T	+	2	0	POR	75446739	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.209000	0.77916	2.118000	0.64928	0.655000	0.94253	ACG		0.617	POR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252796.7	NM_000941		T	75608803	C	T	75608803	3	4	734	1	0	0	0	0	1	0	0	0	12259	536	19	1	282	1	POR	7	75608803	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1978410	75608803	83529860	360	41779											
SRCRB4D	136853	broad.mit.edu;mdanderson.org	37	7	76024631	76024631	+	Silent	SNP	C	C	T	rs139627347		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:76024631C>T	ENST00000275560.3	-	7	1232	c.885G>A	c.(883-885)acG>acA	p.T295T	ZP3_ENST00000336517.4_5'Flank|SRCRB4D_ENST00000492979.2_5'Flank	NM_080744.1	NP_542782.1														autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						GTGCTGTGAGCGTTGGGGGAC	0.622																																																0								C		0,4406		0,0,2203	56	53	54		885	1.6	0.2	7	dbSNP_134	54	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SRCRB4D	NM_080744.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		295/576	76024631	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	136853																														ENST00000275560.3:c.885G>A	7.37:g.76024631C>T				Silent	SNP	ENST00000275560.3	37	CCDS5585.1																																																																																				0.622	SRCRB4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253001.3			T	76024631	C	T	76024631	2	4	734	1	0	0	0	0	0	0	0	1	15142	755	27	1		1	SRCRB4D	7	76024631	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	415828	76024631	83114032	361	41780											
SRCRB4D	136853	broad.mit.edu;bcgsc.ca	37	7	76030355	76030355	+	Missense_Mutation	SNP	C	C	T	rs77067369	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:76030355C>T	ENST00000275560.3	-	3	486	c.139G>A	c.(139-141)Gcc>Acc	p.A47T	ZP3_ENST00000336517.4_Intron	NM_080744.1	NP_542782.1														autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						GGCTGTAGGGCGCTGGCTGAA	0.627													C|||	50	0.00998403	0.0	0.0	5008	,	,		16587	0.0496		0.0	False		,,,				2504	0.0															0								C	,THR/ALA	1,3991		0,1,1995	120	92	101		,139	1.3	0.5	7	dbSNP_131	101	0,7736		0,0,3868	yes	intron,missense	ZP3,SRCRB4D	NM_007155.5,NM_080744.1	,58	0,1,5863	TT,TC,CC		0.0,0.0251,0.0085	,benign	,47/576	76030355	1,11727	1996	3868	5864	SO:0001583	missense	136853																														ENST00000275560.3:c.139G>A	7.37:g.76030355C>T	ENSP00000275560:p.Ala47Thr			Missense_Mutation	SNP	ENST00000275560.3	37	CCDS5585.1	36	0.016483516483516484	0	0.0	0	0.0	36	0.06293706293706294	0	0.0	C	11.06	1.528752	0.27387	2.51E-4	0.0	ENSG00000146700	ENST00000275560	T	0.01209	5.17	4.78	1.3	0.21679	.	0.529873	0.15674	N	0.250223	T	0.00144	0.0004	L	0.36672	1.1	0.46028	D	0.998824	B	0.33739	0.422	B	0.25405	0.06	T	0.67699	-0.5603	10	0.22706	T	0.39	.	3.4369	0.07449	0.0:0.5166:0.2105:0.2729	.	47	Q8WTU2	SRB4D_HUMAN	T	47	ENSP00000275560:A47T	ENSP00000275560:A47T	A	-	1	0	SRCRB4D	75868291	0.062000	0.20869	0.473000	0.27253	0.876000	0.50452	0.135000	0.15952	0.519000	0.28406	-0.350000	0.07774	GCC		0.627	SRCRB4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253001.3			T	76030355	C	T	76030355	3	4	734	1	0	0	0	0	1	0	0	0	15142	768	27	1	1624	1	SRCRB4D	7	76030355	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	5724	76030355	83108308	362	41781											
CACNA2D1	781	broad.mit.edu;bcgsc.ca	37	7	81620513	81620513	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:81620513C>T	ENST00000356253.5	-	22	2096	c.1841G>A	c.(1840-1842)gGc>gAc	p.G614D	CACNA2D1_ENST00000356860.3_Missense_Mutation_p.G595D			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	614					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)	GTAATCTGTGCCATTGACAGG	0.303																																																0													147	126	133					7																	81620513		2202	4295	6497	SO:0001583	missense	781			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.1841G>A	7.37:g.81620513C>T	ENSP00000348589:p.Gly614Asp		Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.41|13.41	2.227764|2.227764	0.39399|0.39399	.|.	.|.	ENSG00000153956|ENSG00000153956	ENST00000443883|ENST00000356860;ENST00000284088;ENST00000356253	.|T;T	.|0.75260	.|-0.92;-0.92	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	.|0.046899	.|0.85682	.|D	.|0.000000	T|T	0.69242|0.69242	0.3089|0.3089	L|L	0.38175|0.38175	1.15|1.15	0.80722|0.80722	D|D	1|1	.|B	.|0.23735	.|0.09	.|B	.|0.29176	.|0.099	T|T	0.62039|0.62039	-0.6938|-0.6938	5|10	.|0.18710	.|T	.|0.47	-10.5042|-10.5042	20.3465|20.3465	0.98790|0.98790	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|595	.|P54289-2	.|.	T|D	113|595;614;614	.|ENSP00000349320:G595D;ENSP00000348589:G614D	.|ENSP00000284088:G614D	A|G	-|-	1|2	0|0	CACNA2D1|CACNA2D1	81458449|81458449	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	4.548000|4.548000	0.60718|0.60718	2.798000|2.798000	0.96311|0.96311	0.655000|0.655000	0.94253|0.94253	GCA|GGC		0.303	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				T	81620513	C	T	81620513	3	4	734	1	0	0	0	0	1	0	0	0	2550	739	26	2	1567	2	CACNA2D1	7	81620513	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	5590158	81620513	77518150	363	41782											
STEAP2	261729	broad.mit.edu;ucsc.edu;mdanderson.org	37	7	89854552	89854552	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:89854552C>T	ENST00000287908.3	+	2	549	c.156C>T	c.(154-156)tgC>tgT	p.C52C	STEAP2_ENST00000394632.1_Silent_p.C52C|STEAP2_ENST00000394621.2_Silent_p.C52C|STEAP2_ENST00000394626.1_Silent_p.C52C|STEAP2_ENST00000402625.2_Silent_p.C52C|STEAP2_ENST00000394629.2_Silent_p.C52C|STEAP2_ENST00000394622.2_Silent_p.C52C	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	52					copper ion import (GO:0015677)|endocytosis (GO:0006897)|ferric iron import into cell (GO:0097461)|Golgi to plasma membrane transport (GO:0006893)|iron ion homeostasis (GO:0055072)|regulated secretory pathway (GO:0045055)|response to hormone (GO:0009725)	cytosol (GO:0005829)|early endosome (GO:0005769)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					TTATTAGATGCGGCTATCATG	0.393																																																0													207	180	189					7																	89854552		2203	4300	6503	SO:0001819	synonymous_variant	261729			AF455138	CCDS5615.1, CCDS43612.1, CCDS59064.1	7q21.13	2011-09-30	2011-09-30		ENSG00000157214	ENSG00000157214			17885	protein-coding gene	gene with protein product		605094	"prostate cancer associated protein 1", "six transmembrane epithelial antigen of the prostate 2"	PCANAP1		10613842, 12095985	Standard	NM_001040665		Approved	IPCA-1, STAMP1, STMP	uc003ujz.3	Q8NFT2	OTTHUMG00000023341	ENST00000287908.3:c.156C>T	7.37:g.89854552C>T			A4D1F1|G5E9C6|Q6UXN6|Q6YPB1|Q8IUE7	Silent	SNP	ENST00000287908.3	37	CCDS5615.1																																																																																				0.393	STEAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059662.4	NM_152999		T	89854552	C	T	89854552	2	4	734	1	0	0	0	0	0	0	0	1	15283	776	27	1		1	STEAP2	7	89854552	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	8234039	89854552	69284111	364	41783											
AKAP9	10142	broad.mit.edu;mdanderson.org;bcgsc.ca	37	7	91631833	91631833	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:91631833T>C	ENST00000359028.2	+	9	2863	c.2638T>C	c.(2638-2640)Tat>Cat	p.Y880H	AKAP9_ENST00000358100.2_Missense_Mutation_p.Y880H|AKAP9_ENST00000356239.3_Missense_Mutation_p.Y868H			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	880	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)			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)			ACAAGAGGAGTATGCTTGCCT	0.299			T	BRAF	papillary thyroid																																		Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0													51	56	55					7																	91631833		2200	4296	6496	SO:0001583	missense	10142			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.2638T>C	7.37:g.91631833T>C	ENSP00000351922:p.Tyr880His		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37		.	.	.	.	.	.	.	.	.	.	T	11.98	1.801164	0.31869	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565	T;T;T	0.05025	3.51;3.51;3.51	5.25	5.25	0.73442	.	0.000000	0.37809	N	0.001932	T	0.24470	0.0593	M	0.69823	2.125	0.41469	D	0.988096	D;D;D;D	0.89917	0.998;0.999;1.0;1.0	D;D;D;D	0.78314	0.975;0.989;0.983;0.991	T	0.00536	-1.1683	10	0.72032	D	0.01	.	15.6084	0.76692	0.0:0.0:0.0:1.0	.	880;868;868;880	Q99996;Q99996-2;Q99996-3;A4D1E4	AKAP9_HUMAN;.;.;.	H	868;880;880;880;880	ENSP00000348573:Y868H;ENSP00000351922:Y880H;ENSP00000350813:Y880H	ENSP00000348573:Y868H	Y	+	1	0	AKAP9	91469769	1.000000	0.71417	0.950000	0.38849	0.938000	0.57974	4.127000	0.57944	2.326000	0.78906	0.533000	0.62120	TAT		0.299	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		C	91631833	T	C	91631833	3	2	734	1	0	0	0	0	1	0	0	0	459	1638	57	3	2632	3	AKAP9	7	91631833	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	1777281	91631833	67506830	365	41784											
CDK6	1021	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	7	92252390	92252390	+	Missense_Mutation	SNP	G	G	A	rs373488172		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:92252390G>A	ENST00000265734.4	-	6	1069	c.658C>T	c.(658-660)Cgt>Tgt	p.R220C	CDK6_ENST00000424848.2_Missense_Mutation_p.R220C	NM_001259.6	NP_001250.1	Q00534	CDK6_HUMAN	cyclin-dependent kinase 6	220	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				astrocyte development (GO:0014002)|cell cycle arrest (GO:0007050)|cell dedifferentiation (GO:0043697)|cell division (GO:0051301)|dentate gyrus development (GO:0021542)|G1/S transition of mitotic cell cycle (GO:0000082)|generation of neurons (GO:0048699)|gliogenesis (GO:0042063)|hematopoietic stem cell differentiation (GO:0060218)|lateral ventricle development (GO:0021670)|mitotic cell cycle (GO:0000278)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular senescence (GO:2000773)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of osteoblast differentiation (GO:0045668)|Notch signaling pathway (GO:0007219)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of erythrocyte differentiation (GO:0045646)|regulation of gene expression (GO:0010468)|response to virus (GO:0009615)|T cell differentiation in thymus (GO:0033077)|type B pancreatic cell development (GO:0003323)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ruffle (GO:0001726)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	11	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			GAACTTCCACGAAAAAGAGGC	0.294			T	MLLT10	ALL																																		Dom	yes		7	7q21-q22	1021	cyclin-dependent kinase 6		L	0								G	CYS/ARG,CYS/ARG	0,4398		0,0,2199	43	44	43		658,658	5.2	1	7		43	1,8591		0,1,4295	no	missense,missense	CDK6	NM_001259.6,NM_001145306.1	180,180	0,1,6494	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	220/327,220/327	92252390	1,12989	2199	4296	6495	SO:0001583	missense	1021				CCDS5628.1	7q21-q22	2011-11-08			ENSG00000105810	ENSG00000105810		"Cyclin-dependent kinases"	1777	protein-coding gene	gene with protein product		603368				1639063	Standard	NM_001259		Approved	PLSTIRE	uc010lez.3	Q00534	OTTHUMG00000131697	ENST00000265734.4:c.658C>T	7.37:g.92252390G>A	ENSP00000265734:p.Arg220Cys		A4D1G0	Missense_Mutation	SNP	ENST00000265734.4	37	CCDS5628.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.693066	0.48202	0.0	1.16E-4	ENSG00000105810	ENST00000265734;ENST00000424848	T;T	0.66638	-0.22;-0.22	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	0.85682	D	0.000000	T	0.61426	0.2346	L	0.43923	1.385	0.80722	D	1	B	0.24132	0.098	B	0.15870	0.014	T	0.58434	-0.7637	10	0.45353	T	0.12	-10.0515	19.094	0.93242	0.0:0.0:1.0:0.0	.	220	Q00534	CDK6_HUMAN	C	220	ENSP00000265734:R220C;ENSP00000397087:R220C	ENSP00000265734:R220C	R	-	1	0	CDK6	92090326	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.245000	0.72398	2.595000	0.87683	0.650000	0.86243	CGT		0.294	CDK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254605.2			A	92252390	G	A	92252390	3	1	734	1	0	0	0	0	1	0	0	0	3150	1058	37	1	334	1	CDK6	7	92252390	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	620557	92252390	66886273	366	41785											
LMTK2	22853	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	7	97823453	97823453	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:97823453G>A	ENST00000297293.5	+	11	3969	c.3676G>A	c.(3676-3678)Gct>Act	p.A1226T		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1226					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)					CTGCACCCTCGCTTCCACGGG	0.607																																																0													67	64	65					7																	97823453		2203	4300	6503	SO:0001583	missense	22853			AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 100"	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.3676G>A	7.37:g.97823453G>A	ENSP00000297293:p.Ala1226Thr		A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	ENST00000297293.5	37	CCDS5654.1	.	.	.	.	.	.	.	.	.	.	G	5.442	0.266728	0.10294	.	.	ENSG00000164715	ENST00000297293	T	0.77229	-1.08	5.84	0.0503	0.14293	.	0.727788	0.13285	N	0.399478	T	0.59142	0.2172	L	0.29908	0.895	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.37384	-0.9708	10	0.12766	T	0.61	.	5.8759	0.18828	0.6301:0.0:0.2131:0.1568	.	1226	Q8IWU2	LMTK2_HUMAN	T	1226	ENSP00000297293:A1226T	ENSP00000297293:A1226T	A	+	1	0	LMTK2	97661389	0.085000	0.21516	0.033000	0.17914	0.382000	0.30200	0.427000	0.21379	-0.208000	0.10171	-0.345000	0.07892	GCT		0.607	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		A	97823453	G	A	97823453	3	1	734	1	0	0	0	0	1	0	0	0	8861	1087	38	1	3718	1	LMTK2	7	97823453	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	5571063	97823453	61315210	367	41786											
TRRAP	8295	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	7	98576517	98576517	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:98576517C>T	ENST00000359863.4	+	57	8812	c.8603C>T	c.(8602-8604)gCg>gTg	p.A2868V	TRRAP_ENST00000355540.3_Missense_Mutation_p.A2850V|TRRAP_ENST00000446306.3_Missense_Mutation_p.A2850V	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2868	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				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)	p.A2850V(1)		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)			ATGAAGGAGGCGCTGGTGCAG	0.622																																																1	Substitution - Missense(1)	stomach(1)											45	47	46					7																	98576517		2203	4300	6503	SO:0001583	missense	8295			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.8603C>T	7.37:g.98576517C>T	ENSP00000352925:p.Ala2868Val		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.64|18.64	3.666500|3.666500	0.67814|0.67814	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.69040|.	-0.37;-0.37|.	6.03|6.03	6.03|6.03	0.97812|0.97812	PIK-related kinase (1);PIK-related kinase, FAT (1);|.	0.055526|.	0.64402|.	D|.	0.000001|.	T|T	0.71986|0.71986	0.3405|0.3405	L|L	0.52206|0.52206	1.635|1.635	0.80722|0.80722	D|D	1|1	P;B;P|.	0.38711|.	0.594;0.113;0.643|.	B;B;B|.	0.28709|.	0.067;0.056;0.093|.	T|T	0.65952|0.65952	-0.6043|-0.6043	10|5	0.31617|.	T|.	0.26|.	.|.	20.5568|20.5568	0.99304|0.99304	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2850;2589;2868|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	V|C	2868;2850;2849|2590	ENSP00000352925:A2868V;ENSP00000347733:A2850V|.	ENSP00000347733:A2850V|.	A|R	+|+	2|1	0|0	TRRAP|TRRAP	98414453|98414453	1.000000|1.000000	0.71417|0.71417	0.971000|0.971000	0.41717|0.41717	0.916000|0.916000	0.54674|0.54674	7.818000|7.818000	0.86416|0.86416	2.861000|2.861000	0.98227|0.98227	0.655000|0.655000	0.94253|0.94253	GCG|CGC		0.622	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		T	98576517	C	T	98576517	3	4	734	1	0	0	0	0	1	0	0	0	16606	768	27	1	8767	1	TRRAP	7	98576517	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	753064	98576517	60562146	368	41787											
CYP3A5	1577	mdanderson.org;bcgsc.ca	37	7	99247772	99247772	+	Missense_Mutation	SNP	A	A	G	rs41279854		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:99247772A>G	ENST00000222982.4	-	12	1436	c.1337T>C	c.(1336-1338)tTt>tCt	p.F446S	CYP3A5_ENST00000343703.5_Missense_Mutation_p.F436S|CYP3A5_ENST00000339843.2_3'UTR	NM_000777.3	NP_000768.1	P20815	CP3A5_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 5	446			F -> S (in dbSNP:rs41279854). {ECO:0000269|PubMed:12893984}.		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)	CATGAGAGCAAACCTCATGCC	0.403													A|||	1	0.000199681	0.0	0.0	5008	,	,		18307	0.0		0.001	False		,,,				2504	0.0															0			GRCh37	CM033965	CYP3A5	M	rs41279854						279	241	254					7																	99247772		2203	4300	6503	SO:0001583	missense	1577			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.1337T>C	7.37:g.99247772A>G	ENSP00000222982:p.Phe446Ser		A4D289|B7Z5I7|Q53WY8|Q75MV0|Q9HB56	Missense_Mutation	SNP	ENST00000222982.4	37	CCDS5672.1	.	.	.	.	.	.	.	.	.	.	A	19.71	3.878797	0.72294	.	.	ENSG00000106258	ENST00000222982;ENST00000343703	T;T	0.73258	-0.73;-0.73	4.73	3.58	0.41010	.	0.099610	0.64402	D	0.000001	D	0.88149	0.6359	H	0.98027	4.13	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.992;0.991;0.995	D	0.87882	0.2678	10	0.87932	D	0	.	8.2279	0.31579	0.9032:0.0:0.0968:0.0	rs41279854	436;446;446	F5H4S0;B2R9K2;P20815	.;.;CP3A5_HUMAN	S	446;436	ENSP00000222982:F446S;ENSP00000342969:F436S	ENSP00000222982:F446S	F	-	2	0	CYP3A5	99085708	1.000000	0.71417	0.419000	0.26584	0.997000	0.91878	8.759000	0.91667	0.660000	0.30964	0.459000	0.35465	TTT		0.403	CYP3A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345469.1			G	99247772	A	G	99247772	3	3	734	1	0	0	0	0	1	0	0	0	4182	14	1	3	179	3	CYP3A5	7	99247772	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	671255	99247772	59890891	369	41788											
ZNF3	7551	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	7	99669271	99669271	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:99669271G>A	ENST00000424697.1	-	6	1142	c.836C>T	c.(835-837)aCg>aTg	p.T279M	ZNF3_ENST00000299667.4_Missense_Mutation_p.T279M|ZNF3_ENST00000303915.6_Missense_Mutation_p.T279M|ZNF3_ENST00000413658.2_Intron	NM_001278284.1|NM_001278287.1|NM_001278290.1|NM_001278291.1|NM_001278292.1|NM_032924.3	NP_001265213.1|NP_001265216.1|NP_001265219.1|NP_001265220.1|NP_001265221.1|NP_116313.3	P17036	ZNF3_HUMAN	zinc finger protein 3	279					cell differentiation (GO:0030154)|leukocyte activation (GO:0045321)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			TTTCTCCCCCGTGTGGATCCT	0.502																																																0													64	73	70					7																	99669271		2201	4299	6500	SO:0001583	missense	7551			AF027136	CCDS43618.1, CCDS43619.1	7q22.1	2013-01-08	2006-05-05					"Zinc fingers, C2H2-type", "-"	13089	protein-coding gene	gene with protein product		194510	"zinc finger protein 3 (A8-51)"				Standard	NM_032924		Approved	A8-51, KOX25, PP838, FLJ20216, HF.12, Zfp113	uc003usr.4	P17036		ENST00000424697.1:c.836C>T	7.37:g.99669271G>A	ENSP00000415358:p.Thr279Met		D6W5U0|P13683|Q9HBR4|Q9NNX8|Q9NXJ1|Q9UC15|Q9UC16	Missense_Mutation	SNP	ENST00000424697.1	37	CCDS43619.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.241770	0.58995	.	.	ENSG00000166526	ENST00000424697;ENST00000303915;ENST00000299667	T;T;T	0.26373	1.74;1.74;1.74	4.71	3.82	0.43975	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.53938	D	0.000041	T	0.50718	0.1632	M	0.77486	2.375	0.42125	D	0.991445	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.987	T	0.57900	-0.7731	10	0.87932	D	0	-34.2278	12.9626	0.58466	0.0:0.1644:0.8356:0.0	.	262;279	B3KRP4;P17036	.;ZNF3_HUMAN	M	279	ENSP00000415358:T279M;ENSP00000306372:T279M;ENSP00000299667:T279M	ENSP00000299667:T279M	T	-	2	0	ZNF3	99507207	1.000000	0.71417	0.852000	0.33557	0.952000	0.60782	6.437000	0.73421	1.344000	0.45657	0.655000	0.94253	ACG		0.502	ZNF3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336247.3	NM_017715		A	99669271	G	A	99669271	3	1	734	1	0	0	0	0	1	0	0	0	17834	1145	40	1	637	1	ZNF3	7	99669271	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	421499	99669271	59469392	370	41789											
COPS6	10980	broad.mit.edu	37	7	99688529	99688529	+	Missense_Mutation	SNP	C	C	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:99688529C>A	ENST00000303904.3	+	6	528	c.491C>A	c.(490-492)cCt>cAt	p.P164H	MIR25_ENST00000384816.1_RNA|MIR93_ENST00000385024.1_RNA|COPS6_ENST00000418625.1_Missense_Mutation_p.P163H	NM_006833.4	NP_006824.2	Q7L5N1	CSN6_HUMAN	COP9 signalosome subunit 6	164					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)			TCACAGCTTCCTGTCAGCGTT	0.443																																																0													157	155	155					7																	99688529		2203	4300	6503	SO:0001583	missense	10980			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.491C>A	7.37:g.99688529C>A	ENSP00000304102:p.Pro164His		A4D2A3|O15387	Missense_Mutation	SNP	ENST00000303904.3	37	CCDS5682.1	.	.	.	.	.	.	.	.	.	.	C	18.20	3.571796	0.65765	.	.	ENSG00000168090	ENST00000303904;ENST00000418625	T;T	0.58210	0.35;0.35	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.77922	0.4203	M	0.90870	3.155	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.83408	0.0026	10	0.87932	D	0	-20.2736	15.3999	0.74830	0.0:1.0:0.0:0.0	.	164	Q7L5N1	CSN6_HUMAN	H	164;163	ENSP00000304102:P164H;ENSP00000400617:P163H	ENSP00000304102:P164H	P	+	2	0	COPS6	99526465	1.000000	0.71417	0.982000	0.44146	0.713000	0.41058	6.368000	0.73104	2.484000	0.83849	0.655000	0.94253	CCT		0.443	COPS6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336412.3	NM_006833		A	99688529	C	A	99688529	3	1	734	1	0	0	0	0	1	0	0	0	3739	681	24	4	513	4	COPS6	7	99688529	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	19258	99688529	59450134	371	41790											
C7orf51	222950	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	7	100085892	100085892	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:100085892G>A	ENST00000300179.2	+	4	707	c.548G>A	c.(547-549)gGc>gAc	p.G183D	NYAP1_ENST00000423930.1_Missense_Mutation_p.G183D|NYAP1_ENST00000454988.1_Missense_Mutation_p.G126D	NM_173564.2	NP_775835.2	Q6ZVC0	NYAP1_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	183	Involved in CYFIP1- and NCKAP1-binding. {ECO:0000250}.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												TGCCCCCCAGGCCCCTCTCCT	0.657																																																0													60	69	66					7																	100085892		2203	4300	6503	SO:0001583	missense	222950			AK094857	CCDS5696.1	7q22.1	2011-11-30	2011-11-30	2011-11-30	ENSG00000166924	ENSG00000166924			22009	protein-coding gene	gene with protein product		615477	"chromosome 7 open reading frame 51", "KIAA1486-like"	C7orf51, KIAA1486L		21946561	Standard	NM_173564		Approved	FLJ37538	uc003uvd.2	Q6ZVC0	OTTHUMG00000155290	ENST00000300179.2:c.548G>A	7.37:g.100085892G>A	ENSP00000300179:p.Gly183Asp		Q6U9Y3|Q8N1V0	Missense_Mutation	SNP	ENST00000300179.2	37	CCDS5696.1	.	.	.	.	.	.	.	.	.	.	G	6.463	0.453518	0.12283	.	.	ENSG00000166924	ENST00000300179;ENST00000423930;ENST00000454988	T;T;T	0.40756	1.02;1.02;1.02	5.14	3.28	0.37604	.	0.127824	0.35646	N	0.003064	T	0.20292	0.0488	N	0.03608	-0.345	0.25451	N	0.988001	B	0.16603	0.018	B	0.17433	0.018	T	0.14924	-1.0455	10	0.20046	T	0.44	-10.2403	13.2611	0.60106	0.0:0.6886:0.3114:0.0	.	183	Q6ZVC0	CG051_HUMAN	D	183;183;126	ENSP00000300179:G183D;ENSP00000411861:G183D;ENSP00000394424:G126D	ENSP00000300179:G183D	G	+	2	0	C7orf51	99923828	0.992000	0.36948	0.956000	0.39512	0.961000	0.63080	2.022000	0.41030	0.516000	0.28340	-0.693000	0.03709	GGC		0.657	NYAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339335.2	NM_173564		A	100085892	G	A	100085892	3	1	734	1	0	0	0	0	1	0	0	0	2402	1203	42	2	558	2	C7orf51	7	100085892	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	397363	100085892	59052771	372	41791											
FBXO24	26261	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	7	100198383	100198383	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:100198383G>A	ENST00000241071.6	+	10	1926	c.1604G>A	c.(1603-1605)cGc>cAc	p.R535H	FBXO24_ENST00000468962.1_Missense_Mutation_p.R523H|PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000427939.2_Missense_Mutation_p.R573H|FBXO24_ENST00000360609.2_3'UTR|PCOLCE-AS1_ENST00000442166.2_RNA|PCOLCE_ENST00000223061.5_5'Flank|PCOLCE-AS1_ENST00000446022.1_RNA	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	535					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)					TTGCAGGACCGCACGGAGAAG	0.642																																																0													83	75	78					7																	100198383		2203	4300	6503	SO:0001583	missense	26261			AF174604	CCDS5698.1, CCDS5699.1, CCDS5699.2, CCDS55138.1	7q22	2005-10-07	2004-06-15		ENSG00000106336	ENSG00000106336		"F-boxes /  "other""	13595	protein-coding gene	gene with protein product		609097	"F-box only protein 24"			10531035, 10531037	Standard	NM_012172		Approved	FBX24	uc011kjz.1	O75426	OTTHUMG00000159543	ENST00000241071.6:c.1604G>A	7.37:g.100198383G>A	ENSP00000241071:p.Arg535His		A4D2D4|B4DX91|B4DY42|Q9H0G1	Missense_Mutation	SNP	ENST00000241071.6	37	CCDS5698.1	.	.	.	.	.	.	.	.	.	.	g	12.40	1.927552	0.34002	.	.	ENSG00000106336	ENST00000241071;ENST00000468962;ENST00000427939	T;T;T	0.16196	2.38;2.38;2.36	4.22	4.22	0.49857	.	0.116434	0.37348	N	0.002139	T	0.06554	0.0168	N	0.08118	0	0.80722	D	1	B;B;B;B	0.34329	0.449;0.449;0.449;0.449	B;B;B;B	0.19148	0.024;0.024;0.024;0.024	T	0.32134	-0.9918	10	0.35671	T	0.21	-8.1622	7.8933	0.29691	0.1108:0.0:0.8892:0.0	.	523;573;535;535	B4DY42;B4DX91;A4D2D3;O75426	.;.;.;FBX24_HUMAN	H	535;523;573	ENSP00000241071:R535H;ENSP00000420239:R523H;ENSP00000416558:R573H	ENSP00000241071:R535H	R	+	2	0	FBXO24	100036319	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	3.529000	0.53532	2.191000	0.70037	0.454000	0.30748	CGC		0.642	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356104.1			A	100198383	G	A	100198383	3	1	734	1	0	0	0	0	1	0	0	0	5737	1087	38	1	1799	1	FBXO24	7	100198383	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	112491	100198383	58940280	373	41792											
ZAN	7455	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	7	100334486	100334486	+	RNA	SNP	G	G	A	rs374155932		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:100334486G>A	ENST00000348028.3	+	0	473				ZAN_ENST00000542585.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_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)			GGAGTGGCCCGCCTGCTCAGC	0.647																																																0													7	10	9					7																	100334486		1878	3846	5724			7455			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100334486G>A			A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	ENST00000348028.3	37		.	.	.	.	.	.	.	.	.	.	G	17.02	3.282921	0.59867	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.02421	4.3;4.3;4.3	4.55	3.65	0.41850	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.000000	0.35677	N	0.003050	T	0.12774	0.0310	M	0.82923	2.615	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74674	0.973;0.984	T	0.00035	-1.2263	10	0.62326	D	0.03	.	7.5698	0.27900	0.1123:0.0:0.8877:0.0	.	103;103	F5H0T8;Q9Y493	.;ZAN_HUMAN	H	103	ENSP00000445943:R103H;ENSP00000445091:R103H;ENSP00000444427:R103H	ENSP00000423579:R103H	R	+	2	0	ZAN	100172422	0.706000	0.27856	1.000000	0.80357	0.508000	0.34012	1.727000	0.38095	2.473000	0.83533	0.561000	0.74099	CGC		0.647	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		A	100334486	G	A	100334486	1	1	734	0	1	0	0	0	0	0	0	0	17518	1087	38	1		1	ZAN	7	100334486	RNA	SNP	G	TCGA-KN-8428-01A-11D-2310-10	136103	100334486	58804177	374	41793											
SLC12A9	56996	broad.mit.edu;bcgsc.ca	37	7	100453339	100453339	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:100453339C>T	ENST00000354161.3	+	4	453	c.328C>T	c.(328-330)Cgc>Tgc	p.R110C	SLC12A9_ENST00000428758.1_Missense_Mutation_p.R110C|SLC12A9_ENST00000415287.1_Intron|SLC12A9_ENST00000540482.1_Missense_Mutation_p.R110C|SLC12A9_ENST00000275729.3_Intron	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	110					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)					CATGATCAGCCGCACACTGGG	0.572																																																0													137	136	136					7																	100453339		2203	4300	6503	SO:0001583	missense	56996			AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828		"Solute carriers"	17435	protein-coding gene	gene with protein product	"cation-chloride cotransporter-interacting protein"					10871601, 11239002	Standard	NM_020246		Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	ENST00000354161.3:c.328C>T	7.37:g.100453339C>T	ENSP00000275730:p.Arg110Cys		B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Missense_Mutation	SNP	ENST00000354161.3	37	CCDS5707.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.226635	0.58668	.	.	ENSG00000146828	ENST00000540482;ENST00000428758;ENST00000354161;ENST00000434158	D;D;D;D	0.99176	-5.52;-5.52;-5.52;-5.52	4.08	1.94	0.25998	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.99414	0.9793	H	0.97240	3.965	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98725	1.0710	10	0.87932	D	0	.	8.0469	0.30555	0.4741:0.5259:0.0:0.0	.	110	Q9BXP2	S12A9_HUMAN	C	110	ENSP00000443702:R110C;ENSP00000408301:R110C;ENSP00000275730:R110C;ENSP00000408571:R110C	ENSP00000275730:R110C	R	+	1	0	SLC12A9	100291275	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	1.846000	0.39289	0.857000	0.35407	0.462000	0.41574	CGC		0.572	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1	NM_020246		T	100453339	C	T	100453339	3	4	734	1	0	0	0	0	1	0	0	0	14396	652	23	1	338	1	SLC12A9	7	100453339	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	118853	100453339	58685324	375	41794											
SLC12A9	56996	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	7	100454700	100454700	+	Missense_Mutation	SNP	G	G	A	rs150811167	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:100454700G>A	ENST00000354161.3	+	5	784	c.659G>A	c.(658-660)cGc>cAc	p.R220H	SLC12A9_ENST00000428758.1_Missense_Mutation_p.R220H|SLC12A9_ENST00000415287.1_Missense_Mutation_p.R131H|SLC12A9_ENST00000540482.1_Missense_Mutation_p.R220H|SLC12A9_ENST00000275729.3_Missense_Mutation_p.R131H	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	220					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)					AGGGACATCCGCTTGACTCCT	0.627																																																0													99	86	90					7																	100454700		2203	4300	6503	SO:0001583	missense	56996			AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828		"Solute carriers"	17435	protein-coding gene	gene with protein product	"cation-chloride cotransporter-interacting protein"					10871601, 11239002	Standard	NM_020246		Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	ENST00000354161.3:c.659G>A	7.37:g.100454700G>A	ENSP00000275730:p.Arg220His		B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Missense_Mutation	SNP	ENST00000354161.3	37	CCDS5707.1	.	.	.	.	.	.	.	.	.	.	G	4.396	0.073139	0.08485	.	.	ENSG00000146828	ENST00000540482;ENST00000428758;ENST00000275729;ENST00000415287;ENST00000354161	D;D;D;D;D	0.98835	-5.17;-5.17;-5.17;-5.17;-5.17	4.62	-0.721	0.11189	Amino acid permease domain (1);	0.494253	0.19028	N	0.124638	D	0.92760	0.7698	N	0.14661	0.345	0.09310	N	1	B;B	0.31193	0.312;0.136	B;B	0.23275	0.027;0.045	D	0.87949	0.2722	10	0.45353	T	0.12	.	2.7391	0.05248	0.1331:0.4432:0.2635:0.1603	.	131;220	Q9BXP2-2;Q9BXP2	.;S12A9_HUMAN	H	220;220;131;131;220	ENSP00000443702:R220H;ENSP00000408301:R220H;ENSP00000275729:R131H;ENSP00000413796:R131H;ENSP00000275730:R220H	ENSP00000275729:R131H	R	+	2	0	SLC12A9	100292636	0.000000	0.05858	0.002000	0.10522	0.025000	0.11179	-0.710000	0.05024	-0.560000	0.06102	-0.384000	0.06662	CGC		0.627	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1	NM_020246		A	100454700	G	A	100454700	3	1	734	1	0	0	0	0	1	0	0	0	14396	1087	38	1	673	1	SLC12A9	7	100454700	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1361	100454700	58683963	376	41795											
SRRT	51593	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	7	100484814	100484814	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:100484814C>T	ENST00000347433.4	+	15	2126	c.1968C>T	c.(1966-1968)caC>caT	p.H656H	SRRT_ENST00000388793.4_Silent_p.H655H|SRRT_ENST00000432932.1_Silent_p.H655H|SRRT_ENST00000457580.2_Silent_p.H656H			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	656					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						GCATCAGTCACGGGGAAGGTG	0.607																																																0													93	89	91					7																	100484814		2203	4300	6503	SO:0001819	synonymous_variant	51593				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.1968C>T	7.37:g.100484814C>T			A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Silent	SNP	ENST00000347433.4	37	CCDS34709.1																																																																																				0.607	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	NM_015908		T	100484814	C	T	100484814	2	4	734	1	0	0	0	0	0	0	0	1	15177	535	19	1		1	SRRT	7	100484814	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	30114	100484814	58653849	377	41796											
MYL10	93408	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	7	101259535	101259535	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:101259535G>A	ENST00000223167.4	-	6	675	c.498C>T	c.(496-498)ttC>ttT	p.F166F		NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN	myosin, light chain 10, regulatory	166	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						CTTCAGTGTCGAACACTTTGA	0.567																																					Esophageal Squamous(24;575 709 17516 40384 51639)											0													117	95	102					7																	101259535		2203	4300	6503	SO:0001819	synonymous_variant	93408			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.498C>T	7.37:g.101259535G>A				Silent	SNP	ENST00000223167.4	37	CCDS34713.1																																																																																				0.567	MYL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347575.1	NM_138403		A	101259535	G	A	101259535	2	1	734	1	0	0	0	0	0	0	0	1	10046	1049	37	1		1	MYL10	7	101259535	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	774721	101259535	57879128	378	41797											
FBXL13	222235	broad.mit.edu;ucsc.edu;mdanderson.org	37	7	102566787	102566787	+	Missense_Mutation	SNP	G	G	A	rs150674888		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:102566787G>A	ENST00000313221.4	-	10	1238	c.812C>T	c.(811-813)cCg>cTg	p.P271L	FBXL13_ENST00000456695.1_Missense_Mutation_p.P271L|FBXL13_ENST00000379306.3_Missense_Mutation_p.P271L|FBXL13_ENST00000393772.2_Missense_Mutation_p.P271L|FBXL13_ENST00000379305.3_Missense_Mutation_p.P271L|LRRC17_ENST00000249377.4_Intron|FBXL13_ENST00000379308.3_Missense_Mutation_p.P271L|FBXL13_ENST00000455112.2_Missense_Mutation_p.P271L|LRRC17_ENST00000339431.4_Intron|FBXL13_ENST00000436908.1_Missense_Mutation_p.P271L	NM_145032.3	NP_659469.3	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	271										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						CAGGACCCCCGGGCAGCCCTC	0.438													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18726	0.0		0.0	False		,,,				2504	0.0															0								G	,LEU/PRO,,LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	63	60	61		,812,,812	3.5	0.1	7	dbSNP_134	61	0,8600		0,0,4300	no	intron,missense,intron,missense	LRRC17,FBXL13	NM_001031692.2,NM_001111038.1,NM_005824.2,NM_145032.3	,98,,98	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,benign,,benign	,271/691,,271/736	102566787	1,13005	2203	4300	6503	SO:0001583	missense	222235			BC031285	CCDS5726.1, CCDS47678.1, CCDS75649.1	7q22.1	2014-07-18			ENSG00000161040	ENSG00000161040		"F-boxes / Leucine-rich repeats"	21658	protein-coding gene	gene with protein product		609080					Standard	NM_145032		Approved	MGC21636, Fbl13	uc003vaq.2	Q8NEE6	OTTHUMG00000157224	ENST00000313221.4:c.812C>T	7.37:g.102566787G>A	ENSP00000321927:p.Pro271Leu		C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0	Missense_Mutation	SNP	ENST00000313221.4	37	CCDS5726.1	.	.	.	.	.	.	.	.	.	.	G	12.14	1.849680	0.32699	2.27E-4	0.0	ENSG00000161040	ENST00000393772;ENST00000379308;ENST00000379306;ENST00000379305;ENST00000436908;ENST00000313221;ENST00000456695;ENST00000455112	T;T;T;T;T;T;T;T	0.19669	2.28;2.28;2.13;2.28;2.28;2.28;2.13;2.28	5.42	3.47	0.39725	.	0.486738	0.18321	N	0.144803	T	0.19525	0.0469	L	0.58510	1.815	0.19300	N	0.999975	B;B;B;B	0.31040	0.002;0.305;0.049;0.003	B;B;B;B	0.26517	0.011;0.07;0.03;0.004	T	0.11299	-1.0593	10	0.39692	T	0.17	.	9.4317	0.38615	0.0:0.1368:0.5818:0.2814	.	271;271;271;271	Q8NEE6-3;Q8NEE6-4;Q8NEE6-2;Q8NEE6	.;.;.;FXL13_HUMAN	L	271	ENSP00000377367:P271L;ENSP00000368610:P271L;ENSP00000368608:P271L;ENSP00000368607:P271L;ENSP00000388608:P271L;ENSP00000321927:P271L;ENSP00000409716:P271L;ENSP00000391550:P271L	ENSP00000321927:P271L	P	-	2	0	FBXL13	102354023	0.866000	0.29940	0.128000	0.21923	0.583000	0.36354	1.657000	0.37366	1.404000	0.46819	0.655000	0.94253	CCG		0.438	FBXL13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348001.1	NM_145032		A	102566787	G	A	102566787	3	1	734	1	0	0	0	0	1	0	0	0	5711	1116	39	1	1439	1	FBXL13	7	102566787	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1307252	102566787	56571876	379	41798											
CDHR3	222256	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	7	105669000	105669000	+	Missense_Mutation	SNP	C	C	T	rs368556227		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:105669000C>T	ENST00000317716.9	+	17	2356	c.2276C>T	c.(2275-2277)aCg>aTg	p.T759M	CDHR3_ENST00000470188.1_3'UTR|CDHR3_ENST00000542731.1_Missense_Mutation_p.T759M|CDHR3_ENST00000478080.1_Missense_Mutation_p.T671M|CDHR3_ENST00000343407.5_Silent_p.N261N	NM_152750.4	NP_689963.2	Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	759					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						TCTGCAGAAACGAAGACTGCA	0.537																																																0								C	MET/THR	0,3892		0,0,1946	65	65	65		2276	-4	0.4	7		65	1,8293		0,1,4146	no	missense	CDHR3	NM_152750.4	81	0,1,6092	TT,TC,CC		0.0121,0.0,0.0082	benign	759/886	105669000	1,12185	1946	4147	6093	SO:0001583	missense	222256			AK126338	CCDS47684.1, CCDS75651.1	7q22.2	2011-07-01			ENSG00000128536	ENSG00000128536		"Cadherins / Cadherin-related"	26308	protein-coding gene	gene with protein product		615610					Standard	NM_152750		Approved	FLJ44366, FLJ23834, CDH28	uc003vdl.4	Q6ZTQ4	OTTHUMG00000157520	ENST00000317716.9:c.2276C>T	7.37:g.105669000C>T	ENSP00000325954:p.Thr759Met		Q8TCI7	Missense_Mutation	SNP	ENST00000317716.9	37	CCDS47684.1	.	.	.	.	.	.	.	.	.	.	C	7.912	0.736668	0.15574	0.0	1.21E-4	ENSG00000128536	ENST00000542731;ENST00000317716;ENST00000478080	T;T;T	0.56611	0.55;0.51;0.45	6.08	-3.95	0.04118	.	0.810325	0.11697	N	0.538287	T	0.22781	0.0550	N	0.04297	-0.235	0.25461	N	0.987917	B;B	0.10296	0.003;0.003	B;B	0.04013	0.001;0.001	T	0.17137	-1.0379	10	0.27785	T	0.31	-1.9056	6.6547	0.22981	0.1722:0.4538:0.0:0.3739	.	746;759	B3KYA0;Q6ZTQ4	.;CDHR3_HUMAN	M	759;759;671	ENSP00000439766:T759M;ENSP00000325954:T759M;ENSP00000417771:T671M	ENSP00000325954:T759M	T	+	2	0	CDHR3	105456236	0.075000	0.21258	0.388000	0.26195	0.467000	0.32768	-0.976000	0.03786	-0.256000	0.09473	-0.982000	0.02568	ACG		0.537	CDHR3-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349025.2	NM_152750		T	105669000	C	T	105669000	3	4	734	1	0	0	0	0	1	0	0	0	3122	536	19	1	2342	1	CDHR3	7	105669000	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	3102213	105669000	53469663	380	41799											
LAMB1	3912	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	7	107605032	107605032	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:107605032A>G	ENST00000222399.6	-	14	1893	c.1663T>C	c.(1663-1665)Tac>Cac	p.Y555H	LAMB1_ENST00000393560.1_Missense_Mutation_p.Y555H|LAMB1_ENST00000393561.1_Missense_Mutation_p.Y579H	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	555	Laminin IV type B. {ECO:0000255|PROSITE- ProRule:PRU00462}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|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-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						TCATAGAGGTAGTGATCCAGG	0.542																																																0													185	160	168					7																	107605032		2203	4300	6503	SO:0001583	missense	3912			M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"Laminins"	6486	protein-coding gene	gene with protein product		150240	"cutis laxa with marfanoid phenotype"	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.1663T>C	7.37:g.107605032A>G	ENSP00000222399:p.Tyr555His		Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.381108	0.82792	.	.	ENSG00000091136	ENST00000393561;ENST00000222399;ENST00000393560	T;T;T	0.39056	1.36;1.36;1.1	4.64	4.64	0.57946	Laminin IV (1);EGF-like, laminin (1);	.	.	.	.	T	0.68192	0.2974	M	0.90483	3.12	0.58432	D	0.999999	D;D;D	0.67145	0.992;0.996;0.996	D;D;D	0.70487	0.93;0.969;0.955	T	0.72743	-0.4201	9	0.35671	T	0.21	.	14.0581	0.64781	1.0:0.0:0.0:0.0	.	555;555;579	E7EPA6;P07942;G3XAI2	.;LAMB1_HUMAN;.	H	579;555;555	ENSP00000377191:Y579H;ENSP00000222399:Y555H;ENSP00000377190:Y555H	ENSP00000222399:Y555H	Y	-	1	0	LAMB1	107392268	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	5.957000	0.70323	1.730000	0.51580	0.460000	0.39030	TAC		0.542	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		G	107605032	A	G	107605032	3	3	734	1	0	0	0	0	1	0	0	0	8612	420	15	3	3781	3	LAMB1	7	107605032	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	1936032	107605032	51533631	381	41800											
LAMB4	22798	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	7	107717415	107717415	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:107717415C>T	ENST00000388781.3	-	17	2181	c.2098G>A	c.(2098-2100)Gct>Act	p.A700T	LAMB4_ENST00000418464.1_Missense_Mutation_p.A700T|LAMB4_ENST00000414450.2_Missense_Mutation_p.A700T|LAMB4_ENST00000205386.4_Missense_Mutation_p.A700T|LAMB4_ENST00000388780.3_Missense_Mutation_p.A700T	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	700	Laminin IV type B. {ECO:0000255|PROSITE- ProRule:PRU00462}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)		p.A700S(1)		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						TGTGAATGAGCGTGGGACTCT	0.418																																																1	Substitution - Missense(1)	lung(1)											111	113	113					7																	107717415		2203	4300	6503	SO:0001583	missense	22798			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.2098G>A	7.37:g.107717415C>T	ENSP00000373433:p.Ala700Thr		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	C	1.440	-0.567907	0.03910	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000388780;ENST00000418464;ENST00000414450	T;T;T;T;T	0.32272	1.47;1.47;1.5;1.46;1.53	5.3	0.207	0.15214	Laminin IV (1);	0.387023	0.21811	N	0.068775	T	0.18257	0.0438	L	0.39020	1.185	0.09310	N	1	B	0.14805	0.011	B	0.09377	0.004	T	0.29852	-0.9998	10	0.15066	T	0.55	.	7.1886	0.25813	0.1063:0.4809:0.0:0.4128	.	700	A4D0S4	LAMB4_HUMAN	T	700	ENSP00000205386:A700T;ENSP00000373433:A700T;ENSP00000373432:A700T;ENSP00000402353:A700T;ENSP00000402265:A700T	ENSP00000205386:A700T	A	-	1	0	LAMB4	107504651	0.000000	0.05858	0.004000	0.12327	0.001000	0.01503	-0.572000	0.05881	-0.383000	0.07858	-1.851000	0.00568	GCT		0.418	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		T	107717415	C	T	107717415	3	4	734	1	0	0	0	0	1	0	0	0	8615	768	27	1	3259	1	LAMB4	7	107717415	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	112383	107717415	51421248	382	41801											
DOCK4	9732	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	7	111368531	111368531	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:111368531C>T	ENST00000437633.1	-	52	5956	c.5700G>A	c.(5698-5700)ccG>ccA	p.P1900P	DOCK4_ENST00000428084.1_Silent_p.P1909P|DOCK4_ENST00000494651.2_Silent_p.P783P	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1900	Pro-rich.				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)				TGTACGGGGGCGGAGTCTTGC	0.711																																																0													24	30	28					7																	111368531		2076	4191	6267	SO:0001819	synonymous_variant	9732				CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.5700G>A	7.37:g.111368531C>T			O14584|O94824|Q8NB45	Silent	SNP	ENST00000437633.1	37	CCDS47688.1	.	.	.	.	.	.	.	.	.	.	C	8.458	0.854645	0.17106	.	.	ENSG00000128512	ENST00000423057;ENST00000445943	.	.	.	5.59	-7.72	0.01250	.	.	.	.	.	T	0.49012	0.1532	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54417	-0.8297	4	.	.	.	.	8.9441	0.35747	0.0:0.2168:0.447:0.3361	.	.	.	.	H	1323;1933	.	.	R	-	2	0	DOCK4	111155767	0.000000	0.05858	0.092000	0.20876	0.876000	0.50452	-2.142000	0.01298	-1.877000	0.01129	-0.878000	0.02970	CGC		0.711	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		T	111368531	C	T	111368531	2	4	734	1	0	0	0	0	0	0	0	1	4691	755	27	1		1	DOCK4	7	111368531	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	3651116	111368531	47770132	383	41802											
WNT2	7472	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	7	116918232	116918232	+	Missense_Mutation	SNP	C	C	T	rs143749132		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:116918232C>T	ENST00000265441.3	-	5	1359	c.1060G>A	c.(1060-1062)Gct>Act	p.A354T		NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	354					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)		GTCCAGTCAGCGTTCTTGGGG	0.567																																																0								C	THR/ALA	0,4406		0,0,2203	149	115	127		1060	4.1	1	7	dbSNP_134	127	1,8599	1.2+/-3.3	0,1,4299	no	missense	WNT2	NM_003391.2	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	354/361	116918232	1,13005	2203	4300	6503	SO:0001583	missense	7472			X07876	CCDS5771.1	7q31	2013-02-28			ENSG00000105989	ENSG00000105989		"Wingless-type MMTV integration sites", "Endogenous ligands"	12780	protein-coding gene	gene with protein product	"secreted growth factor"	147870		INT1L1		2971536	Standard	NM_003391		Approved	IRP	uc003viz.3	P09544	OTTHUMG00000023428	ENST00000265441.3:c.1060G>A	7.37:g.116918232C>T	ENSP00000265441:p.Ala354Thr		A4D0V1|Q75N05|Q9UDP9	Missense_Mutation	SNP	ENST00000265441.3	37	CCDS5771.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.386759	0.61956	0.0	1.16E-4	ENSG00000105989	ENST00000265441	T	0.75367	-0.93	5.99	4.08	0.47627	.	0.297679	0.32147	N	0.006501	T	0.72692	0.3492	M	0.75447	2.3	0.27854	N	0.94063	P;P	0.40332	0.713;0.713	B;B	0.32864	0.154;0.154	T	0.71932	-0.4443	10	0.59425	D	0.04	.	17.7731	0.88499	0.0:0.7421:0.2579:0.0	.	354;354	A4D0V1;P09544	.;WNT2_HUMAN	T	354	ENSP00000265441:A354T	ENSP00000265441:A354T	A	-	1	0	WNT2	116705468	0.912000	0.30974	0.991000	0.47740	0.925000	0.55904	2.211000	0.42825	1.513000	0.48852	0.655000	0.94253	GCT		0.567	WNT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059749.3	NM_003391		T	116918232	C	T	116918232	3	4	734	1	0	0	0	0	1	0	0	0	17391	768	27	1	26	1	WNT2	7	116918232	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	5549701	116918232	42220431	384	41803											
CTTNBP2	83992	hgsc.bcm.edu;ucsc.edu	37	7	117407222	117407222	+	Silent	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:117407222T>C	ENST00000160373.3	-	9	2878	c.2787A>G	c.(2785-2787)ctA>ctG	p.L929L		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	929					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		ACAAGATTTCTAGGCAGTTCT	0.443																																																0													123	108	113					7																	117407222		2203	4300	6503	SO:0001819	synonymous_variant	83992				CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"Ankyrin repeat domain containing"	15679	protein-coding gene	gene with protein product		609772	"cortactin binding protein 2"	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.2787A>G	7.37:g.117407222T>C			O43389|Q7LG11|Q9C0A5	Silent	SNP	ENST00000160373.3	37	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	T	9.882	1.201776	0.22121	.	.	ENSG00000077063	ENST00000446636	.	.	.	5.64	0.326	0.15908	.	.	.	.	.	T	0.50429	0.1615	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34030	-0.9845	4	.	.	.	-9.2463	4.8846	0.13697	0.1252:0.2842:0.0:0.5907	.	.	.	.	G	417	.	.	R	-	1	2	CTTNBP2	117194458	1.000000	0.71417	0.996000	0.52242	0.981000	0.71138	0.779000	0.26746	-0.099000	0.12263	-0.375000	0.07067	AGA		0.443	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		C	117407222	T	C	117407222	2	2	734	1	0	0	0	0	0	0	0	1	4047	1509	53	3		3	CTTNBP2	7	117407222	Silent	SNP	T	TCGA-KN-8428-01A-11D-2310-10	488990	117407222	41731441	385	41804											
WASL	8976	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	7	123346348	123346348	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:123346348C>T	ENST00000223023.4	-	4	751	c.419G>A	c.(418-420)cGt>cAt	p.R140H		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	140	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cellular protein complex localization (GO:0034629)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane budding (GO:0006900)|mitotic nuclear division (GO:0007067)|nitric oxide metabolic process (GO:0046209)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of filopodium assembly (GO:0051491)|protein complex assembly (GO:0006461)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|response to bacterium (GO:0009617)|small molecule metabolic process (GO:0044281)|spindle localization (GO:0051653)|transcription, DNA-templated (GO:0006351)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	small GTPase regulator activity (GO:0005083)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCTTTGTCGACGGCCCAAAAG	0.363																																																0													68	68	68					7																	123346348		2203	4300	6503	SO:0001583	missense	8976			D88460	CCDS34743.1	7q31.3	2008-02-01			ENSG00000106299	ENSG00000106299			12735	protein-coding gene	gene with protein product		605056				9422512, 9322739	Standard	NM_003941		Approved	N-WASP, NWASP	uc003vkz.3	O00401	OTTHUMG00000157346	ENST00000223023.4:c.419G>A	7.37:g.123346348C>T	ENSP00000223023:p.Arg140His		A1JUI9|Q7Z746	Missense_Mutation	SNP	ENST00000223023.4	37	CCDS34743.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.962656	0.74016	.	.	ENSG00000106299	ENST00000223023	D	0.99511	-6.05	5.77	5.77	0.91146	EVH1 (1);Pleckstrin homology-type (1);	0.052002	0.85682	D	0.000000	D	0.99199	0.9722	L	0.38838	1.175	0.80722	D	1	D	0.64830	0.994	D	0.71870	0.975	D	0.99904	1.1174	10	0.72032	D	0.01	-13.4183	20.3627	0.98863	0.0:1.0:0.0:0.0	.	140	O00401	WASL_HUMAN	H	140	ENSP00000223023:R140H	ENSP00000223023:R140H	R	-	2	0	WASL	123133584	0.993000	0.37304	0.925000	0.36789	0.964000	0.63967	3.476000	0.53143	2.885000	0.99019	0.655000	0.94253	CGT		0.363	WASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348522.1	NM_003941		T	123346348	C	T	123346348	3	4	734	1	0	0	0	0	1	0	0	0	17261	536	19	1	1130	1	WASL	7	123346348	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	5939126	123346348	35792315	386	41805											
GRM8	2918	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	7	126173105	126173105	+	Missense_Mutation	SNP	G	G	T	rs569979812		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:126173105G>T	ENST00000339582.2	-	9	3139	c.2331C>A	c.(2329-2331)ttC>ttA	p.F777L	GRM8_ENST00000444921.2_Missense_Mutation_p.F777L|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.F777L			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	777					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)				TGGCTTCATTGAAAGTCTCTG	0.413										HNSCC(24;0.065)																																						0													140	122	128					7																	126173105		2203	4300	6503	SO:0001583	missense	2918				CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.2331C>A	7.37:g.126173105G>T	ENSP00000344173:p.Phe777Leu		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.161074	0.78226	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373	D;D;D	0.93019	-3.15;-3.15;-3.15	5.72	5.72	0.89469	GPCR, family 3, conserved site (1);GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.97757	0.9264	H	0.94886	3.595	0.80722	D	1	D;D	0.76494	0.99;0.999	D;D	0.72982	0.979;0.967	D	0.98483	1.0606	10	0.87932	D	0	.	18.8846	0.92370	0.0:0.0:1.0:0.0	.	777;777	O00222-2;O00222	.;GRM8_HUMAN	L	777	ENSP00000344173:F777L;ENSP00000409790:F777L;ENSP00000351142:F777L	ENSP00000344173:F777L	F	-	3	2	GRM8	125960341	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.879000	0.63100	2.717000	0.92951	0.655000	0.94253	TTC		0.413	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			T	126173105	G	T	126173105	3	4	734	1	0	0	0	0	1	0	0	0	6805	1281	45	4	457	4	GRM8	7	126173105	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	2826757	126173105	32965558	387	41806											
C7orf45	136263	mdanderson.org;bcgsc.ca	37	7	129855843	129855843	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:129855843A>G	ENST00000297819.3	+	3	319	c.268A>G	c.(268-270)Agc>Ggc	p.S90G		NM_145268.3	NP_660311.1	Q8WWF3	SSMM1_HUMAN	serine-rich single-pass membrane protein 1	90						integral component of membrane (GO:0016021)											TAAGCGGCAAAGCAAAGACAG	0.408																																																0													116	105	109					7																	129855843		2203	4300	6503	SO:0001583	missense	0			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.268A>G	7.37:g.129855843A>G	ENSP00000297819:p.Ser90Gly			Missense_Mutation	SNP	ENST00000297819.3	37	CCDS5816.1	.	.	.	.	.	.	.	.	.	.	A	7.226	0.598261	0.13939	.	.	ENSG00000165120	ENST00000297819	T	0.49139	0.79	5.84	4.69	0.59074	.	0.722123	0.13772	N	0.363833	T	0.37571	0.1008	L	0.35723	1.085	0.09310	N	1	B	0.17268	0.021	B	0.15484	0.013	T	0.23547	-1.0185	10	0.36615	T	0.2	0.0253	9.5225	0.39145	0.9201:0.0:0.0799:0.0	.	90	Q8WWF3	CG045_HUMAN	G	90	ENSP00000297819:S90G	ENSP00000297819:S90G	S	+	1	0	C7orf45	129643079	0.035000	0.19736	0.002000	0.10522	0.006000	0.05464	1.590000	0.36654	1.052000	0.40392	0.482000	0.46254	AGC		0.408	SSMEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349768.1	NM_145268		G	129855843	A	G	129855843	3	3	734	1	0	0	0	0	1	0	0	0	2397	72	3	3	278	3	C7orf45	7	129855843	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	3682738	129855843	29282820	388	41807											
KLF14	136259	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	7	130417993	130417993	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:130417993G>A	ENST00000310992.4	-	1	895	c.868C>T	c.(868-870)Cgt>Tgt	p.R290C		NM_138693.2	NP_619638.2	Q8TD94	KLF14_HUMAN	Kruppel-like factor 14	290					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(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(18;0.0435)					GTTCGACGACGTCCCCGGTAC	0.672																																																0													51	48	49					7																	130417993		2196	4293	6489	SO:0001583	missense	136259			AF490374	CCDS5825.1	7q32.3	2014-05-06			ENSG00000174595	ENSG00000266265		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	23025	protein-coding gene	gene with protein product		609393				17480121	Standard	NM_138693		Approved	BTEB5	uc003vqk.2	Q8TD94	OTTHUMG00000188298	ENST00000310992.4:c.868C>T	7.37:g.130417993G>A	ENSP00000310878:p.Arg290Cys		Q19A42|Q19A43	Missense_Mutation	SNP	ENST00000310992.4	37	CCDS5825.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.079248	0.76528	.	.	ENSG00000174595	ENST00000310992	T	0.09163	3.01	4.41	4.41	0.53225	.	0.000000	0.32055	U	0.006641	T	0.21881	0.0527	L	0.40543	1.245	0.42964	D	0.994416	D	0.89917	1.0	D	0.73708	0.981	T	0.00455	-1.1729	10	0.59425	D	0.04	.	11.2262	0.48886	0.0:0.1866:0.8134:0.0	.	290	Q8TD94	KLF14_HUMAN	C	290	ENSP00000310878:R290C	ENSP00000310878:R290C	R	-	1	0	KLF14	130068533	0.002000	0.14202	1.000000	0.80357	0.933000	0.57130	0.923000	0.28757	2.374000	0.81015	0.561000	0.74099	CGT		0.672	KLF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338013.1	NM_138693		A	130417993	G	A	130417993	3	1	734	1	0	0	0	0	1	0	0	0	8344	1145	40	1	107	1	KLF14	7	130417993	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	562150	130417993	28720670	389	41808											
NUP205	23165	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	7	135292055	135292055	+	Missense_Mutation	SNP	C	C	T	rs540996642	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:135292055C>T	ENST00000285968.6	+	22	3157	c.3131C>T	c.(3130-3132)aCg>aTg	p.T1044M		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1044					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						GAGAAAGGAACGGAAGGGAGA	0.463																																																0													99	94	96					7																	135292055		2203	4300	6503	SO:0001583	missense	23165			D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"chromosome 7 open reading frame 14"	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.3131C>T	7.37:g.135292055C>T	ENSP00000285968:p.Thr1044Met		A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	37	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.966911	0.74131	.	.	ENSG00000155561	ENST00000285968	T	0.29917	1.55	5.15	5.15	0.70609	.	0.047461	0.85682	D	0.000000	T	0.40423	0.1116	L	0.34521	1.04	0.80722	D	1	D	0.65815	0.995	P	0.55545	0.778	T	0.14337	-1.0476	10	0.46703	T	0.11	-10.5056	18.9876	0.92779	0.0:1.0:0.0:0.0	.	1044	Q92621	NU205_HUMAN	M	1044	ENSP00000285968:T1044M	ENSP00000285968:T1044M	T	+	2	0	NUP205	134942595	0.999000	0.42202	0.784000	0.31847	0.898000	0.52572	3.793000	0.55484	2.550000	0.86006	0.561000	0.74099	ACG		0.463	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			T	135292055	C	T	135292055	3	4	734	1	0	0	0	0	1	0	0	0	10761	536	19	1	3217	1	NUP205	7	135292055	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	4874062	135292055	23846608	390	41809											
UBN2	254048	broad.mit.edu;hgsc.bcm.edu	37	7	138969008	138969010	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	CAG	CAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:138969008_138969010delCAG	ENST00000473989.3	+	15	3357_3359	c.3357_3359delCAG	c.(3355-3360)atcagc>atc	p.S1120del	UBN2_ENST00000288561.8_In_Frame_Del_p.S1037del	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	1120	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						GAATGAACATCAGCAGACAGTCT	0.493																																																0																																										SO:0001651	inframe_deletion	254048			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.3357_3359delCAG	7.37:g.138969011_138969013delCAG	ENSP00000418648:p.Ser1120del		A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	In_Frame_Del	DEL	ENST00000473989.3	37	CCDS43655.2																																																																																				0.493	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	NM_173569		-	138969010	CAG	-	138969008	7	5	734	1	0	1	0	1	0	0	0	0	16898	816	29	0	3415	0	UBN2	7	138969008	In_Frame_Del	DEL	CAG	TCGA-KN-8428-01A-11D-2310-10	3676953	138969008	20169655	391	41810	388	2									
UBN2	254048	bcgsc.ca	37	7	138969009	138969011	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	CAG	CAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:138969009_138969011delCAG	ENST00000473989.3	+	15	3358_3360	c.3358_3360delCAG	c.(3358-3360)cagdel	p.Q1120del	UBN2_ENST00000288561.8_In_Frame_Del_p.Q1037del	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	1120	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						AATGAACATCAGCAGACAGTCTC	0.488																																																0																																										SO:0001651	inframe_deletion	254048			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.3358_3360delCAG	7.37:g.138969009_138969011delCAG	ENSP00000418648:p.Gln1120del		A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	In_Frame_Del	DEL	ENST00000473989.3	37	CCDS43655.2																																																																																				0.488	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	NM_173569		-	138969011	CAG	-	138969009	7	5	734	1	0	1	0	1	0	0	0	0	16898	188	7	0	3416	0	UBN2	7	138969009	In_Frame_Del	DEL	CAG	TCGA-KN-8428-01A-11D-2310-10	1	138969009	20169654	392	41811	388	2									
OR9A4	130075	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	7	141619431	141619431	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:141619431C>T	ENST00000548136.1	+	1	815	c.756C>T	c.(754-756)taC>taT	p.Y252Y	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	252						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y252*(1)		NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					TGATTGGCTACGGCAGCTGCT	0.498																																																1	Substitution - Nonsense(1)	lung(1)											71	75	74					7																	141619431		2203	4300	6503	SO:0001819	synonymous_variant	130075				CCDS43661.1	7q34	2012-10-03			ENSG00000258083	ENSG00000258083		"GPCR / Class A : Olfactory receptors"	15095	protein-coding gene	gene with protein product							Standard	NM_001001656		Approved		uc003vwu.1	Q8NGU2	OTTHUMG00000158370	ENST00000548136.1:c.756C>T	7.37:g.141619431C>T			B9EGV6|Q6IFI4	Silent	SNP	ENST00000548136.1	37	CCDS43661.1																																																																																				0.498	OR9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350806.3	NM_001001656		T	141619431	C	T	141619431	2	4	734	1	0	0	0	0	0	0	0	1	11251	547	19	1		1	OR9A4	7	141619431	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	2650422	141619431	17519232	393	41812											
TRYX3	136541	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	7	141952190	141952190	+	Splice_Site	SNP	C	C	T	rs533423282	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:141952190C>T	ENST00000552471.1	-	5	896	c.577G>A	c.(577-579)Gaa>Aaa	p.E193K	PRSS58_ENST00000547058.2_Splice_Site_p.E193K			Q8IYP2	PRS58_HUMAN	protease, serine, 58	193	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						GCAGAAACTTCCTGCCAGGAA	0.408													C|||	2	0.000399361	0.0	0.0	5008	,	,		18676	0.0		0.0	False		,,,				2504	0.002															0													53	54	54					7																	141952190		2203	4300	6503	SO:0001630	splice_region_variant	136541				CCDS5871.1	7q34	2012-10-03			ENSG00000258223	ENSG00000258223	3.4.21.4	"Serine peptidases / Serine peptidases"	39125	protein-coding gene	gene with protein product	"trypsin X3"						Standard	NM_001001317		Approved	TRYX3	uc003vxc.4	Q8IYP2	OTTHUMG00000158565	ENST00000552471.1:c.577-1G>A	7.37:g.141952190C>T			B3KVJ6|D3DXD2	Missense_Mutation	SNP	ENST00000552471.1	37	CCDS5871.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.744598	0.89663	.	.	ENSG00000258223	ENST00000547058;ENST00000552471	D;D	0.88431	-2.38;-2.38	5.24	5.24	0.73138	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.93969	0.8069	M	0.77103	2.36	0.49798	D	0.999822	D	0.89917	1.0	D	0.85130	0.997	D	0.94161	0.7414	9	0.72032	D	0.01	.	14.1973	0.65679	0.0:1.0:0.0:0.0	.	193	Q8IYP2	PRS58_HUMAN	K	193	ENSP00000447588:E193K;ENSP00000446916:E193K	ENSP00000307206:E193K	E	-	1	0	PRSS58	141598668	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	3.896000	0.56266	2.723000	0.93209	0.655000	0.94253	GAA		0.408	PRSS58-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351328.2	NM_001001317	Missense_Mutation	T	141952190	C	T	141952190	5	4	734	1	0	0	0	0	0	0	1	0	16609	869	30	2	152	2	TRYX3	7	141952190	Splice_Site	SNP	C	TCGA-KN-8428-01A-11D-2310-10	332759	141952190	17186473	394	41813											
PRSS1	5644	mdanderson.org	37	7	142460764	142460764	+	Missense_Mutation	SNP	G	G	A	rs200902389		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:142460764G>A	ENST00000311737.7	+	5	643	c.637G>A	c.(637-639)Gtt>Att	p.V213I	PRSS1_ENST00000486171.1_Missense_Mutation_p.V227I	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	213	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	GCTCCAAGGAGTTGTCTCCTG	0.507																																																0																																										SO:0001583	missense	5644			M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"Serine peptidases / Serine peptidases"	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.637G>A	7.37:g.142460764G>A	ENSP00000308720:p.Val213Ile		A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Missense_Mutation	SNP	ENST00000311737.7	37	CCDS5872.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.715405	0.00093	.	.	ENSG00000204983	ENST00000486171;ENST00000311737;ENST00000529243	D;D	0.92495	-3.05;-3.05	3.18	-2.69	0.06022	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.441828	0.26891	N	0.021970	T	0.73860	0.3641	N	0.04387	-0.21	0.19575	N	0.999967	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.003	T	0.65500	-0.6153	10	0.02654	T	1	.	8.608	0.33784	0.6977:0.0:0.3023:0.0	.	227;213	E7EQ64;P07477	.;TRY1_HUMAN	I	227;213;203	ENSP00000417854:V227I;ENSP00000308720:V213I	ENSP00000308720:V213I	V	+	1	0	PRSS1	142140338	0.000000	0.05858	0.014000	0.15608	0.002000	0.02628	-0.180000	0.09754	-0.675000	0.05246	-1.152000	0.01820	GTT		0.507	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2			A	142460764	G	A	142460764	3	1	734	1	0	0	0	0	1	0	0	0	12619	1029	36	2	655	2	PRSS1	7	142460764	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	508574	142460764	16677899	395	41814											
PRSS1	5644	mdanderson.org	37	7	142460778	142460778	+	Silent	SNP	T	T	C	rs562372415		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:142460778T>C	ENST00000311737.7	+	5	657	c.651T>C	c.(649-651)ggT>ggC	p.G217G	PRSS1_ENST00000486171.1_Silent_p.G231G	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	217	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	TCTCCTGGGGTGATGGCTGTG	0.522													t|||	1	0.000199681	0.0	0.0	5008	,	,		16577	0.001		0.0	False		,,,				2504	0.0															0													81	82	81					7																	142460778		2203	4300	6503	SO:0001819	synonymous_variant	5644			M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"Serine peptidases / Serine peptidases"	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.651T>C	7.37:g.142460778T>C			A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Silent	SNP	ENST00000311737.7	37	CCDS5872.1																																																																																				0.522	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2			C	142460778	T	C	142460778	2	2	734	1	0	0	0	0	0	0	0	1	12619	1683	59	3		3	PRSS1	7	142460778	Silent	SNP	T	TCGA-KN-8428-01A-11D-2310-10	14	142460778	16677885	396	41815											
OR2A2	442361	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	7	143807471	143807471	+	Nonsense_Mutation	SNP	C	C	T	rs536132673		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:143807471C>T	ENST00000408979.2	+	1	865	c.796C>T	c.(796-798)Cga>Tga	p.R266*		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, 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)			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					CTCTAATCAACGAGAGGAGCA	0.512													-|||	1	0.000199681	0.0	0.0	5008	,	,		19383	0.001		0.0	False		,,,				2504	0.0															0													174	169	171					7																	143807471		2028	4204	6232	SO:0001587	stop_gained	442361				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.796C>T	7.37:g.143807471C>T	ENSP00000386209:p.Arg266*		B2RN85|Q8NGT6	Nonsense_Mutation	SNP	ENST00000408979.2	37	CCDS43671.1	.	.	.	.	.	.	.	.	.	.	C	10.68	1.417609	0.25552	.	.	ENSG00000221989	ENST00000408979	.	.	.	3.47	1.61	0.23674	.	1.769010	0.04226	U	0.334378	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	0.2154	4.7794	0.13195	0.0:0.6092:0.0:0.3908	.	.	.	.	X	266	.	ENSP00000386209:R266X	R	+	1	2	OR2A2	143438404	0.000000	0.05858	0.001000	0.08648	0.045000	0.14185	-2.818000	0.00751	0.795000	0.33922	0.511000	0.50034	CGA		0.512	OR2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349978.1			T	143807471	C	T	143807471	4	4	734	1	0	0	0	0	0	1	0	0	10979	528	19	1	798	1	OR2A2	7	143807471	Nonsense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1346693	143807471	15331192	397	41816											
SSPO	23145	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	7	149483252	149483252	+	RNA	SNP	G	G	A	rs374088477		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:149483252G>A	ENST00000378016.2	+	0	3320							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)	p.R357L(1)				Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGCCTGCGTCGTGCTGGCCTC	0.652																																																1	Substitution - Missense(1)	lung(1)						G		1,4273		0,1,2136	34	41	39		3324	-8.3	0	7		39	0,8480		0,0,4240	no	coding-notMod3	SSPO	NM_198455.2		0,1,6376	AA,AG,GG		0.0,0.0234,0.0078			149483252	1,12753	2137	4240	6377			23145			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149483252G>A			Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37																																																																																					0.652	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				A	149483252	G	A	149483252	1	1	734	0	1	0	0	0	0	0	0	0	15194	1145	40	1		1	SSPO	7	149483252	RNA	SNP	G	TCGA-KN-8428-01A-11D-2310-10	5675781	149483252	9655411	398	41817											
TMEM176B	28959	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	7	150490188	150490188	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:150490188C>T	ENST00000447204.2	-	5	960	c.588G>A	c.(586-588)atG>atA	p.M196I	TMEM176B_ENST00000429904.2_Missense_Mutation_p.M196I|TMEM176B_ENST00000450753.2_Missense_Mutation_p.M159I|TMEM176B_ENST00000434545.1_Missense_Mutation_p.M196I|TMEM176B_ENST00000326442.5_Missense_Mutation_p.M196I|TMEM176B_ENST00000492607.1_Missense_Mutation_p.M196I	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	196					cell differentiation (GO:0030154)|negative regulation of dendritic cell differentiation (GO:2001199)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCAGCATCTGCATGTAAGCTC	0.557																																																0													131	106	115					7																	150490188		2203	4300	6503	SO:0001583	missense	28959			AF115384	CCDS5908.1, CCDS47746.1	7q36.1	2006-09-04			ENSG00000106565	ENSG00000106565			29596	protein-coding gene	gene with protein product		610385				9922225	Standard	NM_014020		Approved	LR8	uc003whu.4	Q3YBM2	OTTHUMG00000157577	ENST00000447204.2:c.588G>A	7.37:g.150490188C>T	ENSP00000410269:p.Met196Ile		B2RDK2|D3DWZ7|E9PAV4|Q5BJI2|Q9BT42|Q9Y609	Missense_Mutation	SNP	ENST00000447204.2	37	CCDS5908.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.939542	0.52972	.	.	ENSG00000106565	ENST00000492607;ENST00000326442;ENST00000447204;ENST00000434545;ENST00000429904;ENST00000450753;ENST00000528038	T;T;T;T;T;T	0.02280	4.36;4.36;4.36;4.36;4.36;4.36	3.7	3.7	0.42460	.	0.436853	0.20880	U	0.084010	T	0.08537	0.0212	M	0.73598	2.24	0.09310	N	0.999992	P;D	0.56968	0.945;0.978	P;P	0.57620	0.76;0.824	T	0.02901	-1.1096	10	0.56958	D	0.05	-14.5952	11.6847	0.51479	0.0:1.0:0.0:0.0	.	159;196	E9PAV4;Q3YBM2	.;T176B_HUMAN	I	196;196;196;196;196;159;196	ENSP00000419258:M196I;ENSP00000318409:M196I;ENSP00000410269:M196I;ENSP00000413531:M196I;ENSP00000397810:M196I;ENSP00000404831:M159I	ENSP00000318409:M196I	M	-	3	0	TMEM176B	150121121	0.666000	0.27475	0.064000	0.19789	0.007000	0.05969	2.540000	0.45727	2.023000	0.59567	0.448000	0.29417	ATG		0.557	TMEM176B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349204.1	NM_014020		T	150490188	C	T	150490188	3	4	734	1	0	0	0	0	1	0	0	0	16098	710	25	2	236	2	TMEM176B	7	150490188	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1006936	150490188	8648475	399	41818											
KCNH2	3757	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	7	150648045	150648045	+	Silent	SNP	G	G	A	rs202214833		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:150648045G>A	ENST00000262186.5	-	8	2510	c.2109C>T	c.(2107-2109)caC>caT	p.H703H	KCNH2_ENST00000392968.2_Silent_p.H607H|KCNH2_ENST00000430723.3_Silent_p.H703H|KCNH2_ENST00000330883.4_Silent_p.H363H	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	703					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)			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	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)	AGGACCAGGCGTGCTGGAAGT	0.652													G|||	1	0.000199681	0.0	0.0	5008	,	,		17046	0.001		0.0	False		,,,				2504	0.0				GBM(137;110 1844 13671 20123 45161)											0													106	83	91					7																	150648045		2203	4300	6503	SO:0001819	synonymous_variant	3757			U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.2109C>T	7.37:g.150648045G>A			A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Silent	SNP	ENST00000262186.5	37	CCDS5910.1																																																																																				0.652	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350741.2	NM_000238		A	150648045	G	A	150648045	2	1	734	1	0	0	0	0	0	0	0	1	8034	1136	40	1		1	KCNH2	7	150648045	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	157857	150648045	8490618	400	41819											
ACCN3	9311	broad.mit.edu;mdanderson.org	37	7	150747623	150747623	+	Silent	SNP	G	G	A	rs149333074		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:150747623G>A	ENST00000349064.5	+	3	939	c.741G>A	c.(739-741)ccG>ccA	p.P247P	ASIC3_ENST00000357922.4_Silent_p.P247P|ASIC3_ENST00000297512.8_Silent_p.P247P	NM_004769.3|NM_020321.3	NP_004760.1|NP_064717.1	Q9UHC3	ASIC3_HUMAN	acid-sensing (proton-gated) ion channel 3	247					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)										AGGAGGAGCCGCCCATCATCG	0.627																																																0								G	,,	1,4405	2.1+/-5.4	0,1,2202	70	74	73		741,741,741	-8.7	0	7	dbSNP_134	73	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	ACCN3	NM_004769.2,NM_020321.2,NM_020322.2	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	247/532,247/550,247/544	150747623	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9311			AB010575	CCDS5914.1, CCDS5915.1, CCDS5916.1	7q35	2012-02-23	2012-02-22	2012-02-22	ENSG00000213199	ENSG00000213199		"Ion channels / Acid-sensing (proton-gated) ion channels"	101	protein-coding gene	gene with protein product	"testis sodium channel 1"	611741	"amiloride-sensitive cation channel 3, testis", "amiloride-sensitive cation channel 3"	ACCN3		9571199, 9744806	Standard	NM_004769		Approved	TNaC1, DRASIC	uc003wio.3	Q9UHC3	OTTHUMG00000158685	ENST00000349064.5:c.741G>A	7.37:g.150747623G>A			B2R9V0|O60263|O75906|Q59FN9|Q9UER8|Q9UHC4	Silent	SNP	ENST00000349064.5	37	CCDS5916.1																																																																																				0.627	ASIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351725.1	NM_004769		A	150747623	G	A	150747623	2	1	734	1	0	0	0	0	0	0	0	1	130	1074	38	1		1	ACCN3	7	150747623	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	99578	150747623	8391040	401	41820											
MYOM2	9172	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	8	2033488	2033488	+	Missense_Mutation	SNP	G	G	A	rs544544159	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:2033488G>A	ENST00000262113.4	+	14	1751	c.1610G>A	c.(1609-1611)cGt>cAt	p.R537H	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	537	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CCCACTCCCCGTGGCAAGGAC	0.597													G|||	2	0.000399361	0.0	0.0	5008	,	,		17975	0.002		0.0	False		,,,				2504	0.0															0													64	57	59					8																	2033488		2203	4300	6503	SO:0001583	missense	9172				CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7614	protein-coding gene	gene with protein product		603509	"myomesin (M-protein) 2 (165kD)", "myomesin (M-protein) 2, 165kDa"				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.1610G>A	8.37:g.2033488G>A	ENSP00000262113:p.Arg537His		Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.637676	0.67130	.	.	ENSG00000036448	ENST00000262113	T	0.57595	0.39	5.75	5.75	0.90469	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.130725	0.52532	D	0.000068	T	0.62270	0.2414	L	0.46157	1.445	0.80722	D	1	D	0.56746	0.977	P	0.53593	0.73	T	0.63743	-0.6568	10	0.72032	D	0.01	.	19.961	0.97250	0.0:0.0:1.0:0.0	.	537	P54296	MYOM2_HUMAN	H	537	ENSP00000262113:R537H	ENSP00000262113:R537H	R	+	2	0	MYOM2	2020895	1.000000	0.71417	0.962000	0.40283	0.009000	0.06853	7.686000	0.84128	2.709000	0.92574	0.651000	0.88453	CGT		0.597	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		A	2033488	G	A	2033488	3	1	734	1	0	0	0	0	1	0	0	0	10094	1145	40	1	1660	1	MYOM2	8	2033488	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10		2033488	144330534	402	41821											
AMAC1L2	83650	mdanderson.org	37	8	11189403	11189403	+	Missense_Mutation	SNP	C	C	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:11189403C>A	ENST00000382435.4	+	1	1007	c.788C>A	c.(787-789)gCc>gAc	p.A263D		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	263						integral component of membrane (GO:0016021)											GGGATCCTCGCCTTGGTCTCC	0.627																																																0													118	114	115					8																	11189403		2203	4300	6503	SO:0001583	missense	83650			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.788C>A	8.37:g.11189403C>A	ENSP00000371872:p.Ala263Asp		A2RRL6	Missense_Mutation	SNP	ENST00000382435.4	37	CCDS5980.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.115895	0.37339	.	.	ENSG00000177710	ENST00000382435	T	0.69685	-0.42	.	.	.	.	0.000000	0.44285	D	0.000479	T	0.62380	0.2423	L	0.51422	1.61	0.37002	D	0.895315	P	0.38582	0.638	P	0.47015	0.534	T	0.61068	-0.7137	9	0.49607	T	0.09	-2.6207	5.8679	0.18786	0.0:0.9992:0.0:8.0E-4	.	263	Q96KT7	S35G5_HUMAN	D	263	ENSP00000371872:A263D	ENSP00000371872:A263D	A	+	2	0	SLC35G5	11226813	0.246000	0.23909	0.169000	0.22859	0.170000	0.22686	3.079000	0.50104	0.088000	0.17205	0.089000	0.15464	GCC		0.627	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207313.2	NM_054028		A	11189403	C	A	11189403	3	1	734	1	0	0	0	0	1	0	0	0	560	739	26	4	790	4	AMAC1L2	8	11189403	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	9155915	11189403	135174619	403	41822											
MTUS1	57509	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	8	17503472	17503472	+	Missense_Mutation	SNP	G	G	A	rs148435996		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:17503472G>A	ENST00000262102.6	-	15	4000	c.3776C>T	c.(3775-3777)tCg>tTg	p.S1259L	MTUS1_ENST00000544260.1_Missense_Mutation_p.S404L|MTUS1_ENST00000297488.6_Missense_Mutation_p.S425L|MTUS1_ENST00000381869.3_Missense_Mutation_p.S1205L|MTUS1_ENST00000519263.1_Missense_Mutation_p.S1205L|MTUS1_ENST00000400046.1_Missense_Mutation_p.S331L|MTUS1_ENST00000381861.3_Missense_Mutation_p.S506L	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	1259					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		GAAGGAGCCCGAATTCCTTGG	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		14747	0.0		0.001	False		,,,				2504	0.0															0													60	64	63					8																	17503472		1928	4138	6066	SO:0001583	missense	57509			AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"AT2 receptor-interacting protein", "AT2R binding protein", "mitochondrial tumor suppressor gene 1"	609589	"mitochondrial tumor suppressor 1"			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.3776C>T	8.37:g.17503472G>A	ENSP00000262102:p.Ser1259Leu		A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Missense_Mutation	SNP	ENST00000262102.6	37	CCDS43717.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	17.90	3.502973	0.64298	.	.	ENSG00000129422	ENST00000381869;ENST00000544260;ENST00000400046;ENST00000297488;ENST00000381861;ENST00000262102;ENST00000519263	T;T;T;T;T;T;T	0.25085	2.85;2.03;1.82;2.04;1.96;2.74;2.85	4.66	4.66	0.58398	.	0.106321	0.64402	D	0.000003	T	0.55114	0.1900	M	0.80028	2.48	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;0.996	T	0.61811	-0.6986	10	0.87932	D	0	-5.5731	18.1297	0.89597	0.0:0.0:1.0:0.0	.	1205;1259;506;425	Q9ULD2-2;Q9ULD2;Q9ULD2-6;Q9ULD2-3	.;MTUS1_HUMAN;.;.	L	1205;404;331;425;506;1259;1205	ENSP00000371293:S1205L;ENSP00000445738:S404L;ENSP00000382921:S331L;ENSP00000297488:S425L;ENSP00000371285:S506L;ENSP00000262102:S1259L;ENSP00000430167:S1205L	ENSP00000262102:S1259L	S	-	2	0	MTUS1	17547752	1.000000	0.71417	0.089000	0.20774	0.011000	0.07611	9.104000	0.94239	2.583000	0.87209	0.655000	0.94253	TCG		0.552	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031		A	17503472	G	A	17503472	3	1	734	1	0	0	0	0	1	0	0	0	9967	1059	37	1	40	1	MTUS1	8	17503472	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	6314069	17503472	128860550	404	41823											
CSGALNACT1	55790	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	8	19363316	19363316	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:19363316C>T	ENST00000454498.2	-	4	1043	c.30G>A	c.(28-30)gcG>gcA	p.A10A	CSGALNACT1_ENST00000522854.1_Silent_p.A10A|CSGALNACT1_ENST00000311540.4_Silent_p.A10A|CSGALNACT1_ENST00000544602.1_Silent_p.A10A|CSGALNACT1_ENST00000332246.6_Silent_p.A10A	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	10					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|endochondral ossification (GO:0001958)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|heparin biosynthetic process (GO:0030210)|nervous system development (GO:0007399)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|UDP-glucuronate metabolic process (GO:0046398)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|intracellular (GO:0005622)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|glucuronosyltransferase activity (GO:0015020)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)|peptidoglycan glycosyltransferase activity (GO:0008955)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		GGGAAATCCACGCAAGCAGCC	0.607																																																0													101	106	104					8																	19363316		2203	4300	6503	SO:0001819	synonymous_variant	55790			AK002126	CCDS6010.1	8p21.3	2013-02-19				ENSG00000147408		"Beta 4-glycosyltransferases"	24290	protein-coding gene	gene with protein product	"chondroitin beta1,4 N-acetylgalactosaminyltransferase"					17145758, 12446672	Standard	NM_018371		Approved	CSGalNAcT-1, FLJ11264, ChGn	uc011kyo.2	Q8TDX6		ENST00000454498.2:c.30G>A	8.37:g.19363316C>T			B2RBE4|Q6P9G6|Q8IUF9|Q9NSQ7|Q9NUM9	Silent	SNP	ENST00000454498.2	37	CCDS6010.1																																																																																				0.607	CSGALNACT1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375204.1	NM_018371		T	19363316	C	T	19363316	2	4	734	1	0	0	0	0	0	0	0	1	3940	523	19	1		1	CSGALNACT1	8	19363316	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1859844	19363316	127000706	405	41824											
ATP6V1B2	526	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	8	20070346	20070346	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:20070346C>T	ENST00000276390.2	+	9	897	c.857C>T	c.(856-858)gCg>gTg	p.A286V		NM_001693.3	NP_001684.2	P21281	VATB2_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2	286					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|ruffle (GO:0001726)	ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			endometrium(1)|kidney(2)|lung(5)|prostate(1)	9				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)	Gallium nitrate(DB05260)	GAATTTCTGGCGTACCAATGT	0.413																																					Pancreas(119;1230 1726 3901 4036 31644)											0													193	171	179					8																	20070346		2203	4300	6503	SO:0001583	missense	526			L35249	CCDS6014.1	8p21.3	2010-04-21	2006-01-13	2002-05-10	ENSG00000147416	ENSG00000147416	3.6.3.14	"ATPases / V-type"	854	protein-coding gene	gene with protein product		606939	"ATPase, H+ transporting, lysosomal (vacuolar proton pump), beta polypeptide, 56/58kD, isoform 2", "ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B, isoform 2"	VPP3, ATP6B2		2145275, 14580332	Standard	NM_001693		Approved	VATB, Vma2, HO57	uc003wzp.3	P21281	OTTHUMG00000131073	ENST00000276390.2:c.857C>T	8.37:g.20070346C>T	ENSP00000276390:p.Ala286Val		B2R5Z3|D3DSQ5|Q14544|Q15859|Q96IR0	Missense_Mutation	SNP	ENST00000276390.2	37	CCDS6014.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.454562	0.84209	.	.	ENSG00000147416	ENST00000276390;ENST00000542368	T	0.79554	-1.28	4.9	4.9	0.64082	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);	0.047194	0.85682	D	0.000000	D	0.86615	0.5975	M	0.91561	3.22	0.80722	D	1	D	0.63046	0.992	P	0.45753	0.492	D	0.90445	0.4434	10	0.87932	D	0	-20.994	17.1689	0.86824	0.0:1.0:0.0:0.0	.	286	P21281	VATB2_HUMAN	V	286;160	ENSP00000276390:A286V	ENSP00000276390:A286V	A	+	2	0	ATP6V1B2	20114626	1.000000	0.71417	0.977000	0.42913	0.482000	0.33219	7.651000	0.83577	2.699000	0.92147	0.655000	0.94253	GCG		0.413	ATP6V1B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253732.1	NM_001693		T	20070346	C	T	20070346	3	4	734	1	0	0	0	0	1	0	0	0	1179	768	27	1	891	1	ATP6V1B2	8	20070346	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	707030	20070346	126293676	406	41825											
LZTS1	11178	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	8	20110814	20110814	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:20110814C>T	ENST00000381569.1	-	3	985	c.628G>A	c.(628-630)Gcc>Acc	p.A210T	LZTS1_ENST00000265801.6_Missense_Mutation_p.A210T|LZTS1_ENST00000522290.1_Missense_Mutation_p.A210T			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	210					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)		ATGTTGTGGGCGGAGCCCCCA	0.622																																																0													52	56	54					8																	20110814		2203	4300	6503	SO:0001583	missense	11178			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.628G>A	8.37:g.20110814C>T	ENSP00000370981:p.Ala210Thr		D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	Missense_Mutation	SNP	ENST00000381569.1	37	CCDS6015.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.065170	0.76187	.	.	ENSG00000061337	ENST00000381569;ENST00000265801;ENST00000522290;ENST00000360248	T;T;T	0.25085	2.14;2.14;1.82	5.93	5.93	0.95920	.	0.209202	0.48767	D	0.000164	T	0.38134	0.1029	L	0.29908	0.895	0.50313	D	0.999866	D;D	0.76494	0.999;0.998	D;P	0.64506	0.926;0.825	T	0.01819	-1.1267	10	0.23891	T	0.37	-32.7352	18.9076	0.92469	0.0:1.0:0.0:0.0	.	210;210	Q9Y250-4;Q9Y250	.;LZTS1_HUMAN	T	210	ENSP00000370981:A210T;ENSP00000265801:A210T;ENSP00000429263:A210T	ENSP00000265801:A210T	A	-	1	0	LZTS1	20155094	1.000000	0.71417	0.978000	0.43139	0.906000	0.53458	5.335000	0.65929	2.815000	0.96918	0.561000	0.74099	GCC		0.622	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214122.1	NM_021020		T	20110814	C	T	20110814	3	4	734	1	0	0	0	0	1	0	0	0	9140	768	27	1	1170	1	LZTS1	8	20110814	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	40468	20110814	126253208	407	41826											
XPO7	23039	hgsc.bcm.edu	37	8	21827087	21827087	+	Splice_Site	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:21827087C>T	ENST00000252512.9	+	3	359	c.259C>T	c.(259-261)Cgg>Tgg	p.R87W	XPO7_ENST00000433566.4_Splice_Site_p.R88W|XPO7_ENST00000434536.1_Splice_Site_p.R87W|XPO7_ENST00000518017.1_3'UTR	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	87	Importin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00115}.				mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		AATAGATATTCGTAAGTGGAG	0.398																																																0													79	75	76					8																	21827087		1856	4105	5961	SO:0001630	splice_region_variant	23039			AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227		"Exportins"	14108	protein-coding gene	gene with protein product		606140	"RAN binding protein 16"	RANBP16		11024021, 9872452	Standard	NM_015024		Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.259+1C>T	8.37:g.21827087C>T			O94846|Q6PJK9|Q8NEK7	Missense_Mutation	SNP	ENST00000252512.9	37	CCDS47818.1	.	.	.	.	.	.	.	.	.	.	C	34	5.408153	0.96051	.	.	ENSG00000130227	ENST00000434536;ENST00000252512;ENST00000433566	T;T;T	0.71341	-0.56;-0.56;-0.56	5.51	5.51	0.81932	Armadillo-like helical (1);Armadillo-type fold (1);Importin-beta, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.88336	0.6409	M	0.92833	3.35	0.80722	D	1	D;P;P	0.89917	1.0;0.951;0.903	D;P;P	0.87578	0.998;0.648;0.648	D	0.89589	0.3826	10	0.52906	T	0.07	-16.741	19.3771	0.94514	0.0:1.0:0.0:0.0	.	88;87;87	E7ESC6;E9PEN8;Q9UIA9	.;.;XPO7_HUMAN	W	87;87;88	ENSP00000404853:R87W;ENSP00000252512:R87W;ENSP00000410249:R88W	ENSP00000252512:R87W	R	+	1	2	XPO7	21883033	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.347000	0.79356	2.753000	0.94483	0.591000	0.81541	CGG		0.398	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375494.1	NM_015024	Missense_Mutation	T	21827087	C	T	21827087	5	4	734	1	0	0	0	0	0	0	1	0	17454	898	31	1	294	1	XPO7	8	21827087	Splice_Site	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1716273	21827087	124536935	408	41827											
EPB49	2039	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	8	21924625	21924625	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:21924625C>T	ENST00000523266.1	+	3	510	c.48C>T	c.(46-48)agC>agT	p.S16S	DMTN_ENST00000415253.1_Silent_p.S16S|DMTN_ENST00000519907.1_Silent_p.S16S|DMTN_ENST00000517600.1_Intron|DMTN_ENST00000432128.1_Silent_p.S16S|DMTN_ENST00000265800.5_Silent_p.S16S|DMTN_ENST00000358242.3_Silent_p.S16S|DMTN_ENST00000381470.3_Silent_p.S16S|DMTN_ENST00000523782.2_Intron|DMTN_ENST00000443491.2_Intron	NM_001978.2	NP_001969.2	Q08495	DEMA_HUMAN	dematin actin binding protein	16					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)										GGAGCGTGAGCCCCTCCCGAG	0.721																																																0													29	30	29					8																	21924625		2200	4299	6499	SO:0001819	synonymous_variant	2039			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.48C>T	8.37:g.21924625C>T			A8K0T5|B3KP70|B3KRH3|E9PEJ0|Q13215|Q9BRE3	Silent	SNP	ENST00000523266.1	37	CCDS6020.1																																																																																				0.721	DMTN-009	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375178.1	NM_001978		T	21924625	C	T	21924625	2	4	734	1	0	0	0	0	0	0	0	1	5161	738	26	2		2	EPB49	8	21924625	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	97538	21924625	124439397	409	41828											
HR	55806	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	8	21983099	21983099	+	Missense_Mutation	SNP	G	G	A	rs138624433		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:21983099G>A	ENST00000381418.4	-	4	3032	c.1552C>T	c.(1552-1554)Cgg>Tgg	p.R518W	HR_ENST00000312841.8_Missense_Mutation_p.R518W	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	518					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)		GCTCACCTCCGCACTTGCTGA	0.652																																																0								G	TRP/ARG,TRP/ARG	0,4398		0,0,2199	42	37	39		1552,1552	-0.2	0	8	dbSNP_134	39	2,8596	1.2+/-3.3	0,2,4297	yes	missense,missense	HR	NM_005144.4,NM_018411.4	101,101	0,2,6496	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging	518/1190,518/1135	21983099	2,12994	2199	4299	6498	SO:0001583	missense	55806			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.1552C>T	8.37:g.21983099G>A	ENSP00000370826:p.Arg518Trp		Q6GS30|Q96H33|Q9NPE1	Missense_Mutation	SNP	ENST00000381418.4	37	CCDS6022.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.458779	0.43634	0.0	2.33E-4	ENSG00000168453	ENST00000381418;ENST00000312841	T;T	0.75260	-0.92;-0.91	5.39	-0.245	0.13027	.	1.146510	0.06485	N	0.733587	T	0.63450	0.2512	L	0.42245	1.32	0.09310	N	1	B;B	0.14438	0.002;0.01	B;B	0.04013	0.001;0.001	T	0.53344	-0.8452	10	0.87932	D	0	.	3.3279	0.07074	0.2786:0.0:0.4001:0.3213	.	518;518	O43593-2;O43593	.;HAIR_HUMAN	W	518	ENSP00000370826:R518W;ENSP00000326765:R518W	ENSP00000326765:R518W	R	-	1	2	HR	22039044	0.000000	0.05858	0.000000	0.03702	0.376000	0.30014	0.061000	0.14366	0.045000	0.15804	0.561000	0.74099	CGG		0.652	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214213.1			A	21983099	G	A	21983099	3	1	734	1	0	0	0	0	1	0	0	0	7349	1086	38	1	2081	1	HR	8	21983099	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	58474	21983099	124380923	410	41829											
LGI3	203190	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	8	22012104	22012104	+	Missense_Mutation	SNP	C	C	T	rs375380959		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:22012104C>T	ENST00000306317.2	-	3	608	c.319G>A	c.(319-321)Gcc>Acc	p.A107T	LGI3_ENST00000424267.2_Missense_Mutation_p.A107T	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	107					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)		CCTGTGAAGGCGTTGTCTCCA	0.582																																																0								C	THR/ALA	0,4406		0,0,2203	161	147	152		319	5.5	1	8		152	1,8599	1.2+/-3.3	0,1,4299	no	missense	LGI3	NM_139278.2	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	107/549	22012104	1,13005	2203	4300	6503	SO:0001583	missense	203190			AJ487518	CCDS6025.1	8p21.2	2008-07-28			ENSG00000168481	ENSG00000168481			18711	protein-coding gene	gene with protein product		608302				12023020, 18628660	Standard	NM_139278		Approved		uc003xav.3	Q8N145	OTTHUMG00000131599	ENST00000306317.2:c.319G>A	8.37:g.22012104C>T	ENSP00000302297:p.Ala107Thr		A5PLP2|Q86TL4|Q8N296	Missense_Mutation	SNP	ENST00000306317.2	37	CCDS6025.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.729823	0.89390	0.0	1.16E-4	ENSG00000168481	ENST00000306317;ENST00000424267;ENST00000517694	T;T;D	0.90620	0.2;0.32;-2.7	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.90844	0.7124	L	0.37697	1.125	0.47698	D	0.999499	D;D	0.71674	0.998;0.998	P;P	0.55749	0.783;0.783	D	0.91746	0.5408	10	0.87932	D	0	-25.6384	14.9559	0.71113	0.0:1.0:0.0:0.0	.	107;107	A5PLP2;Q8N145	.;LGI3_HUMAN	T	107;107;68	ENSP00000302297:A107T;ENSP00000399121:A107T;ENSP00000427817:A68T	ENSP00000302297:A107T	A	-	1	0	LGI3	22068049	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.399000	0.66314	2.611000	0.88343	0.655000	0.94253	GCC		0.582	LGI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254482.1			T	22012104	C	T	22012104	3	4	734	1	0	0	0	0	1	0	0	0	8755	768	27	1	1351	1	LGI3	8	22012104	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	29005	22012104	124351918	411	41830											
LOXL2	4017	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	8	23174480	23174480	+	Missense_Mutation	SNP	C	C	T	rs369018704		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:23174480C>T	ENST00000389131.3	-	9	1987	c.1618G>A	c.(1618-1620)Gga>Aga	p.G540R		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	540	SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}.				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)	p.G540R(1)		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)		CAGGCAACTCCGGCCCCGTAC	0.662																																																1	Substitution - Missense(1)	lung(1)						C	ARG/GLY	1,4403	2.1+/-5.4	0,1,2201	49	44	46		1618	5.2	1	8		46	0,8600		0,0,4300	no	missense	LOXL2	NM_002318.2	125	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	540/775	23174480	1,13003	2202	4300	6502	SO:0001583	missense	4017			U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.1618G>A	8.37:g.23174480C>T	ENSP00000373783:p.Gly540Arg		B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Missense_Mutation	SNP	ENST00000389131.3	37	CCDS34864.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.762976	0.89932	2.27E-4	0.0	ENSG00000134013	ENST00000389131	T	0.39406	1.08	5.15	5.15	0.70609	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.000000	0.85682	D	0.000000	T	0.77698	0.4169	H	0.97291	3.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.86093	0.1551	10	0.87932	D	0	.	17.5716	0.87935	0.0:1.0:0.0:0.0	.	540;540	B2R5Q0;Q9Y4K0	.;LOXL2_HUMAN	R	540	ENSP00000373783:G540R	ENSP00000373783:G540R	G	-	1	0	LOXL2	23230425	1.000000	0.71417	0.993000	0.49108	0.638000	0.38207	7.810000	0.86072	2.562000	0.86427	0.655000	0.94253	GGA		0.662	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375603.1			T	23174480	C	T	23174480	3	4	734	1	0	0	0	0	1	0	0	0	8902	661	23	1	730	1	LOXL2	8	23174480	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1162376	23174480	123189542	412	41831											
LOXL2	4017	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	8	23174516	23174516	+	Missense_Mutation	SNP	C	C	T	rs145002005		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:23174516C>T	ENST00000389131.3	-	9	1951	c.1582G>A	c.(1582-1584)Gtg>Atg	p.V528M		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	528	SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}.				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)		GGGCAGGCCACGTCCTCCCCG	0.657																																																0								C	MET/VAL	0,4406		0,0,2203	65	56	59		1582	5.4	0.5	8	dbSNP_134	59	1,8599	1.2+/-3.3	0,1,4299	no	missense	LOXL2	NM_002318.2	21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	528/775	23174516	1,13005	2203	4300	6503	SO:0001583	missense	4017			U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.1582G>A	8.37:g.23174516C>T	ENSP00000373783:p.Val528Met		B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Missense_Mutation	SNP	ENST00000389131.3	37	CCDS34864.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.073941	0.76415	0.0	1.16E-4	ENSG00000134013	ENST00000389131	T	0.35605	1.3	5.39	5.39	0.77823	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.170904	0.52532	D	0.000069	T	0.56277	0.1974	M	0.81341	2.54	0.38341	D	0.944073	D;D	0.60575	0.988;0.975	P;P	0.59761	0.78;0.863	T	0.64287	-0.6443	10	0.66056	D	0.02	.	11.5723	0.50841	0.0:0.9175:0.0:0.0825	.	528;528	B2R5Q0;Q9Y4K0	.;LOXL2_HUMAN	M	528	ENSP00000373783:V528M	ENSP00000373783:V528M	V	-	1	0	LOXL2	23230461	0.124000	0.22315	0.487000	0.27428	0.859000	0.49053	0.674000	0.25218	2.678000	0.91216	0.655000	0.94253	GTG		0.657	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375603.1			T	23174516	C	T	23174516	3	4	734	1	0	0	0	0	1	0	0	0	8902	536	19	1	766	1	LOXL2	8	23174516	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	36	23174516	123189506	413	41832											
NEFL	4747	broad.mit.edu	37	8	24813771	24813771	+	RNA	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:24813771G>A	ENST00000221169.5	-	0	853				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)		TCCTGCGTGCGGATGGACTTG	0.622																																																0													32	35	34					8																	24813771		2170	4271	6441			4747				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.24813771G>A			B9ZVN2|Q16154|Q8IU72	Missense_Mutation	SNP	ENST00000221169.5	37																																																																																					0.622	NEFL-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000258943.4	NM_006158		A	24813771	G	A	24813771	1	1	734	0	1	0	0	0	0	0	0	0	10317	1116	39	1		1	NEFL	8	24813771	RNA	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1639255	24813771	121550251	414	41833											
KCTD9	54793	broad.mit.edu	37	8	25296836	25296836	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:25296836C>T	ENST00000221200.4	-	6	678	c.458G>A	c.(457-459)cGt>cAt	p.R153H	KCTD9_ENST00000518067.1_5'Flank	NM_017634.3	NP_060104.2	Q7L273	KCTD9_HUMAN	potassium channel tetramerization domain containing 9	153	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				protein homooligomerization (GO:0051260)					breast(1)|endometrium(2)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	12		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)		CTGTCCATGACGCAAGTAGTT	0.353																																																0													42	40	41					8																	25296836		2203	4300	6503	SO:0001583	missense	54793			BC021216	CCDS6048.1	8p21.1	2013-06-20	2013-06-20		ENSG00000104756	ENSG00000104756		"BTB/POZ domain containing"	22401	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 9"			11483580	Standard	NM_017634		Approved	FLJ20038, BTBD27	uc003xeo.3	Q7L273	OTTHUMG00000099428	ENST00000221200.4:c.458G>A	8.37:g.25296836C>T	ENSP00000221200:p.Arg153His		Q6NUM8|Q9NXV4	Missense_Mutation	SNP	ENST00000221200.4	37	CCDS6048.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.163457	0.78226	.	.	ENSG00000104756	ENST00000221200	T	0.55760	0.5	5.61	5.61	0.85477	BTB/POZ-like (2);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.64402	U	0.000001	D	0.85788	0.5778	H	0.99425	4.56	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.91610	0.5302	10	0.87932	D	0	.	20.0086	0.97443	0.0:1.0:0.0:0.0	.	153	Q7L273	KCTD9_HUMAN	H	153	ENSP00000221200:R153H	ENSP00000221200:R153H	R	-	2	0	KCTD9	25352753	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.808000	0.96608	0.655000	0.94253	CGT		0.353	KCTD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216890.1	NM_017634		T	25296836	C	T	25296836	3	4	734	1	0	0	0	0	1	0	0	0	8118	536	19	1	739	1	KCTD9	8	25296836	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	483065	25296836	121067186	415	41834											
CDCA2	157313	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	8	25341585	25341585	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:25341585G>A	ENST00000330560.3	+	10	1701	c.1224G>A	c.(1222-1224)ttG>ttA	p.L408L	CDCA2_ENST00000380665.3_Silent_p.L393L|CDCA2_ENST00000521098.2_3'UTR	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	408					mitotic nuclear division (GO:0007067)|positive regulation of protein dephosphorylation (GO:0035307)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		ATGAATCTTTGCCAGCAAATA	0.433																																																0													90	88	88					8																	25341585		2203	4300	6503	SO:0001819	synonymous_variant	157313			BG354575	CCDS6049.1	8p21.2	2014-06-12			ENSG00000184661	ENSG00000184661			14623	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 81"					12188893, 16492807	Standard	NM_152562		Approved	Repo-Man, PPP1R81	uc003xep.1	Q69YH5	OTTHUMG00000099429	ENST00000330560.3:c.1224G>A	8.37:g.25341585G>A			Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Silent	SNP	ENST00000330560.3	37	CCDS6049.1																																																																																				0.433	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216891.3	NM_152562		A	25341585	G	A	25341585	2	1	734	1	0	0	0	0	0	0	0	1	3088	1310	46	2		2	CDCA2	8	25341585	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	44749	25341585	121022437	416	41835											
DPYSL2	1808	broad.mit.edu;hgsc.bcm.edu	37	8	26513189	26513189	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:26513189C>T	ENST00000311151.5	+	14	2098	c.1686C>T	c.(1684-1686)ccC>ccT	p.P562P	DPYSL2_ENST00000521913.1_Silent_p.P526P|DPYSL2_ENST00000523027.1_Silent_p.P526P	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	562					axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|olfactory bulb development (GO:0021772)|positive regulation of glutamate secretion (GO:0014049)|pyrimidine nucleobase catabolic process (GO:0006208)|regulation of neuron differentiation (GO:0045664)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|spinal cord development (GO:0021510)|synaptic vesicle transport (GO:0048489)	axon (GO:0030424)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	dihydropyrimidinase activity (GO:0004157)			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		TGGCGCCCCCCGGTGGCCGTG	0.637											OREG0018659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													65	64	65					8																	26513189		2203	4299	6502	SO:0001819	synonymous_variant	1808			D78013	CCDS6051.1, CCDS59096.1	8p22-p21	2011-09-28			ENSG00000092964	ENSG00000092964			3014	protein-coding gene	gene with protein product		602463				8973361	Standard	NM_001197293		Approved	DRP-2, DHPRP2, CRMP2, DRP2	uc003xfa.3	Q16555	OTTHUMG00000099439	ENST00000311151.5:c.1686C>T	8.37:g.26513189C>T		787	A8K5H2|B4DR31|D3DSS7|O00424	Silent	SNP	ENST00000311151.5	37	CCDS6051.1																																																																																				0.637	DPYSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216904.3	NM_001386		T	26513189	C	T	26513189	2	4	734	1	0	0	0	0	0	0	0	1	4749	639	23	1		1	DPYSL2	8	26513189	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1171604	26513189	119850833	417	41836											
PBK	55872	broad.mit.edu;mdanderson.org;bcgsc.ca	37	8	27679912	27679912	+	Missense_Mutation	SNP	C	C	T	rs371557868		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:27679912C>T	ENST00000301905.4	-	5	852	c.389G>A	c.(388-390)cGa>cAa	p.R130Q	PBK_ENST00000522944.1_Missense_Mutation_p.R130Q	NM_018492.2	NP_060962.2	Q96KB5	TOPK_HUMAN	PDZ binding kinase	130	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mitotic nuclear division (GO:0007067)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|large_intestine(2)|lung(1)	4		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|KIRC - Kidney renal clear cell carcinoma(542;0.101)|Kidney(114;0.121)|Colorectal(74;0.141)		GGCTTTATATCGTTCTTCTAT	0.353																																																0													81	77	78					8																	27679912		2202	4300	6502	SO:0001583	missense	55872			AB027249	CCDS6063.1, CCDS64858.1	8p21.2	2009-08-06			ENSG00000168078	ENSG00000168078			18282	protein-coding gene	gene with protein product	"T-LAK cell-originated protein kinase", "cancer/testis antigen 84"	611210				10781613, 10779557	Standard	NM_018492		Approved	TOPK, FLJ14385, Nori-3, SPK, CT84	uc003xgi.3	Q96KB5	OTTHUMG00000102113	ENST00000301905.4:c.389G>A	8.37:g.27679912C>T	ENSP00000301905:p.Arg130Gln		B4DX68|D3DST2|Q9NPD9|Q9NYL7|Q9NZK6	Missense_Mutation	SNP	ENST00000301905.4	37	CCDS6063.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.989672	0.74589	.	.	ENSG00000168078	ENST00000301905;ENST00000522944	T;T	0.35236	1.32;1.32	5.22	5.22	0.72569	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	0.51176	0.1659	L	0.58669	1.825	0.80722	D	1	D;D	0.64830	0.994;0.985	P;P	0.58520	0.84;0.604	T	0.39272	-0.9622	10	0.30854	T	0.27	-3.5252	16.643	0.85134	0.0:1.0:0.0:0.0	.	130;130	B4DX68;Q96KB5	.;TOPK_HUMAN	Q	130	ENSP00000301905:R130Q;ENSP00000428489:R130Q	ENSP00000301905:R130Q	R	-	2	0	PBK	27735831	1.000000	0.71417	0.664000	0.29753	0.070000	0.16714	5.532000	0.67154	2.567000	0.86603	0.655000	0.94253	CGA		0.353	PBK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219952.2	NM_018492		T	27679912	C	T	27679912	3	4	734	1	0	0	0	0	1	0	0	0	11490	884	31	1	595	1	PBK	8	27679912	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1166723	27679912	118684110	418	41837											
GTF2E2	2961	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	8	30436512	30436512	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:30436512G>A	ENST00000355904.4	-	8	1084	c.802C>T	c.(802-804)Cga>Tga	p.R268*		NM_002095.4	NP_002086.1	P29084	T2EB_HUMAN	general transcription factor IIE, polypeptide 2, beta 34kDa	268	Arg/Lys-rich (basic).				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIE complex (GO:0005673)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)		TTAAAGCGTCGCTTTTTCTGT	0.453																																																0													163	156	159					8																	30436512		2203	4300	6503	SO:0001587	stop_gained	2961			BC030572	CCDS6078.1	8p12	2010-03-23	2002-08-29		ENSG00000197265	ENSG00000197265		"General transcription factors"	4651	protein-coding gene	gene with protein product		189964	"general transcription factor IIE, polypeptide 2 (beta subunit, 34kD)"			1956404	Standard	NM_002095		Approved	TFIIE-B, FE, TF2E2	uc003xig.3	P29084	OTTHUMG00000163934	ENST00000355904.4:c.802C>T	8.37:g.30436512G>A	ENSP00000348168:p.Arg268*		D3DSV2|Q9H2B9	Nonsense_Mutation	SNP	ENST00000355904.4	37	CCDS6078.1	.	.	.	.	.	.	.	.	.	.	G	37	6.199703	0.97371	.	.	ENSG00000197265	ENST00000355904	.	.	.	5.62	2.66	0.31614	.	0.154150	0.56097	D	0.000033	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.1608	6.8209	0.23857	0.0815:0.0:0.4988:0.4197	.	.	.	.	X	268	.	ENSP00000348168:R268X	R	-	1	2	GTF2E2	30556054	1.000000	0.71417	0.988000	0.46212	0.939000	0.58152	4.482000	0.60257	0.834000	0.34852	-0.182000	0.12963	CGA		0.453	GTF2E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376459.2	NM_002095		A	30436512	G	A	30436512	4	1	734	1	0	0	0	0	0	1	0	0	6859	1095	38	1	77	1	GTF2E2	8	30436512	Nonsense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	2756600	30436512	115927510	419	41838											
WRN	7486	broad.mit.edu	37	8	30924630	30924630	+	Missense_Mutation	SNP	C	C	T	rs375762379		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:30924630C>T	ENST00000298139.5	+	6	835	c.586C>T	c.(586-588)Cgc>Tgc	p.R196C		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	196	3'-5' exonuclease.|Interaction with WRNIP1. {ECO:0000250}.				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)		CAAGTCTATCCGCTGTAGCAA	0.413			"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)	yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	Werner syndrome (RECQL2)		"L, E, M, O"	0								C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	93	81	85		586	5.8	1	8		85	0,8600		0,0,4300	no	missense	WRN	NM_000553.4	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	196/1433	30924630	1,13005	2203	4300	6503	SO:0001583	missense	7486	Familial Cancer Database	WS, Adult Progeria		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.586C>T	8.37:g.30924630C>T	ENSP00000298139:p.Arg196Cys		A1KYY9	Missense_Mutation	SNP	ENST00000298139.5	37	CCDS6082.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.886939	0.91814	2.27E-4	0.0	ENSG00000165392	ENST00000298139	T	0.63913	-0.07	5.82	5.82	0.92795	-5&apos (2);Ribonuclease H-like (1); exonuclease (2);3&apos (2);	0.056461	0.64402	N	0.000001	D	0.85444	0.5698	M	0.93638	3.44	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88398	0.3013	10	0.87932	D	0	-10.7416	19.6956	0.96023	0.0:1.0:0.0:0.0	.	196	Q14191	WRN_HUMAN	C	196	ENSP00000298139:R196C	ENSP00000298139:R196C	R	+	1	0	WRN	31044172	1.000000	0.71417	0.992000	0.48379	0.966000	0.64601	6.162000	0.71874	2.757000	0.94681	0.561000	0.74099	CGC		0.413	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			T	30924630	C	T	30924630	3	4	734	1	0	0	0	0	1	0	0	0	17407	652	23	1	604	1	WRN	8	30924630	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	488118	30924630	115439392	420	41839											
BRF2	55290	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	8	37706116	37706116	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:37706116C>T	ENST00000220659.6	-	2	332	c.212G>A	c.(211-213)cGa>cAa	p.R71Q	BRF2_ENST00000521170.1_Missense_Mutation_p.R71Q|BRF2_ENST00000520601.1_Missense_Mutation_p.R71Q	NM_018310.3	NP_060780.2	P47974	TISD_HUMAN	BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit	0					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)			ATTCTCACCTCGTTGCTGGCT	0.453																																																0													272	230	245					8																	37706116		2203	4300	6503	SO:0001583	missense	55290			AF298153	CCDS6098.1	8p11.23	2013-05-29	2013-05-29		ENSG00000104221	ENSG00000104221			17298	protein-coding gene	gene with protein product		607013	"BRF2, subunit of RNA polymerase III transcription initiation factor, BRF1-like"			11483580, 11564744	Standard	NM_018310		Approved	FLJ11052, BRFU, TFIIIB50	uc003xkk.3	Q9HAW0	OTTHUMG00000164025	ENST00000220659.6:c.212G>A	8.37:g.37706116C>T	ENSP00000220659:p.Arg71Gln		Q53TB4|Q9BSJ3	Missense_Mutation	SNP	ENST00000220659.6	37	CCDS6098.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.380363	0.82682	.	.	ENSG00000104221	ENST00000220659;ENST00000545765;ENST00000520601;ENST00000521170	.	.	.	5.91	4.14	0.48551	Cyclin-like (2);	0.262213	0.33813	N	0.004522	T	0.64000	0.2559	L	0.56769	1.78	0.37519	D	0.917441	D	0.76494	0.999	P	0.57548	0.823	T	0.65055	-0.6261	9	0.31617	T	0.26	.	10.1671	0.42886	0.0:0.845:0.0:0.155	.	71	Q9HAW0	BRF2_HUMAN	Q	71;48;71;71	.	ENSP00000220659:R71Q	R	-	2	0	BRF2	37825274	1.000000	0.71417	0.999000	0.59377	0.913000	0.54294	2.576000	0.46033	0.855000	0.35359	-0.136000	0.14681	CGA		0.453	BRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376811.2	NM_018310		T	37706116	C	T	37706116	3	4	734	1	0	0	0	0	1	0	0	0	1513	884	31	1	1059	1	BRF2	8	37706116	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	6781486	37706116	108657906	421	41840											
AP3M2	10947	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	8	42015607	42015607	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:42015607G>A	ENST00000518421.1	+	4	713	c.422G>A	c.(421-423)cGa>cAa	p.R141Q	AP3M2_ENST00000174653.3_Missense_Mutation_p.R141Q|AP3M2_ENST00000517922.1_Missense_Mutation_p.R141Q|AP3M2_ENST00000396926.3_Missense_Mutation_p.R141Q|AP3M2_ENST00000520685.1_Intron	NM_001134296.1	NP_001127768.1	P53677	AP3M2_HUMAN	adaptor-related protein complex 3, mu 2 subunit	141					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)		p.R141Q(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1)	17	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			ACCATCCTTCGAACGGTTGTC	0.468																																																1	Substitution - Missense(1)	large_intestine(1)											111	103	106					8																	42015607		2203	4300	6503	SO:0001583	missense	10947			D38293	CCDS6125.1	8p11.2	2008-07-07			ENSG00000070718	ENSG00000070718			570	protein-coding gene	gene with protein product		610469				7601449	Standard	NM_006803		Approved	CLA20, AP47B	uc003xoo.3	P53677	OTTHUMG00000164060	ENST00000518421.1:c.422G>A	8.37:g.42015607G>A	ENSP00000428787:p.Arg141Gln		B2RCR0|D3DSY2|Q7Z472	Missense_Mutation	SNP	ENST00000518421.1	37	CCDS6125.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.535738	0.85812	.	.	ENSG00000070718	ENST00000518421;ENST00000174653;ENST00000396926;ENST00000521280;ENST00000517922;ENST00000517499	T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-0.99;-1.01	4.79	4.79	0.61399	Longin-like (1);	0.000000	0.85682	D	0.000000	T	0.71484	0.3345	L	0.52126	1.63	0.80722	D	1	B;P	0.48294	0.403;0.908	B;B	0.36378	0.042;0.223	T	0.76208	-0.3043	10	0.46703	T	0.11	-10.2754	18.2325	0.89938	0.0:0.0:1.0:0.0	.	141;141	E7ER80;P53677	.;AP3M2_HUMAN	Q	141;141;141;26;141;50	ENSP00000428787:R141Q;ENSP00000174653:R141Q;ENSP00000380132:R141Q;ENSP00000430616:R26Q;ENSP00000429435:R141Q	ENSP00000174653:R141Q	R	+	2	0	AP3M2	42134764	1.000000	0.71417	0.906000	0.35671	0.970000	0.65996	9.330000	0.96422	2.363000	0.80096	0.650000	0.86243	CGA		0.468	AP3M2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376996.1			A	42015607	G	A	42015607	3	1	734	1	0	0	0	0	1	0	0	0	748	1058	37	1	428	1	AP3M2	8	42015607	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	4309491	42015607	104348415	422	41841											
IKBKB	3551	broad.mit.edu;hgsc.bcm.edu	37	8	42179650	42179650	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:42179650G>A	ENST00000520810.1	+	18	2003	c.1817G>A	c.(1816-1818)cGa>cAa	p.R606Q	IKBKB_ENST00000379708.3_Missense_Mutation_p.R383Q|IKBKB_ENST00000416505.2_Missense_Mutation_p.R547Q|IKBKB_ENST00000520835.1_Missense_Mutation_p.R604Q|IKBKB_ENST00000522147.1_Intron	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	606					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)	AAGAAAGTGCGAGTGATCTAT	0.552																																																0													96	96	96					8																	42179650		2203	4300	6503	SO:0001583	missense	3551			AF029684	CCDS6128.1, CCDS55228.1, CCDS56535.1	8p11.2	2008-08-18			ENSG00000104365	ENSG00000104365			5960	protein-coding gene	gene with protein product		603258				9878263, 9763654	Standard	NM_001556		Approved	IKK2, NFKBIKB, IKK-beta, IKKB	uc003xow.2	O14920	OTTHUMG00000164092	ENST00000520810.1:c.1817G>A	8.37:g.42179650G>A	ENSP00000430684:p.Arg606Gln		B4DZ30|B4E0U4|O75327	Missense_Mutation	SNP	ENST00000520810.1	37	CCDS6128.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.795081	0.50208	.	.	ENSG00000104365	ENST00000520810;ENST00000416505;ENST00000520835;ENST00000379708	T;T;T;T	0.22336	1.96;1.96;1.96;1.96	5.61	4.74	0.60224	.	0.258863	0.31404	N	0.007712	T	0.29652	0.0740	L	0.53249	1.67	0.37206	D	0.90459	D;P;D;P	0.76494	0.998;0.723;0.999;0.602	P;B;P;B	0.55011	0.652;0.146;0.766;0.069	T	0.20240	-1.0281	10	0.26408	T	0.33	.	9.0543	0.36397	0.0747:0.0:0.779:0.1464	.	547;604;383;606	B4E0U4;O14920-2;B3KRB7;O14920	.;.;.;IKKB_HUMAN	Q	606;547;604;383	ENSP00000430684:R606Q;ENSP00000404920:R547Q;ENSP00000430868:R604Q;ENSP00000369030:R383Q	ENSP00000369030:R383Q	R	+	2	0	IKBKB	42298807	0.977000	0.34250	0.988000	0.46212	0.987000	0.75469	3.596000	0.54024	1.370000	0.46153	0.655000	0.94253	CGA		0.552	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377214.1			A	42179650	G	A	42179650	3	1	734	1	0	0	0	0	1	0	0	0	7613	1058	37	1	1883	1	IKBKB	8	42179650	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	164043	42179650	104184372	423	41842											
SLC20A2	6575	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	8	42296994	42296994	+	Missense_Mutation	SNP	G	G	A	rs200267443		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:42296994G>A	ENST00000342228.3	-	7	1277	c.908C>T	c.(907-909)gCg>gTg	p.A303V	SLC20A2_ENST00000520262.1_Missense_Mutation_p.A303V|SLC20A2_ENST00000520179.1_Missense_Mutation_p.A303V	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	303					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)			GTGGCTGCCCGCAGAAGTGCC	0.607																																																0													84	79	81					8																	42296994		2203	4300	6503	SO:0001583	missense	6575				CCDS6132.1	8p11.21	2013-05-22			ENSG00000168575	ENSG00000168575		"Solute carriers"	10947	protein-coding gene	gene with protein product		158378		MLVAR, GLVR2		7745689, 16790504	Standard	NM_001257180		Approved	PiT-2, Glvr-2	uc010lxm.4	Q08357	OTTHUMG00000164169	ENST00000342228.3:c.908C>T	8.37:g.42296994G>A	ENSP00000340465:p.Ala303Val			Missense_Mutation	SNP	ENST00000342228.3	37	CCDS6132.1	.	.	.	.	.	.	.	.	.	.	G	12.19	1.863931	0.32884	.	.	ENSG00000168575	ENST00000342228;ENST00000520262;ENST00000520179	D;D;D	0.90385	-2.66;-2.66;-2.66	5.79	-7.61	0.01299	.	1.703850	0.02716	N	0.113497	T	0.77110	0.4082	N	0.12637	0.245	0.09310	N	1	B	0.06786	0.001	B	0.12837	0.008	T	0.65487	-0.6156	10	0.28530	T	0.3	-0.0518	3.4171	0.07380	0.5448:0.0863:0.2283:0.1405	.	303	Q08357	S20A2_HUMAN	V	303	ENSP00000340465:A303V;ENSP00000429754:A303V;ENSP00000429712:A303V	ENSP00000340465:A303V	A	-	2	0	SLC20A2	42416151	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.032000	0.13732	-1.243000	0.02519	-0.781000	0.03364	GCG		0.607	SLC20A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377578.1			A	42296994	G	A	42296994	3	1	734	1	0	0	0	0	1	0	0	0	14445	1087	38	1	1070	1	SLC20A2	8	42296994	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	117344	42296994	104067028	424	41843											
HOOK3	84376	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	8	42873507	42873507	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:42873507A>G	ENST00000307602.4	+	22	2223	c.2023A>G	c.(2023-2025)Acc>Gcc	p.T675A	RP11-598P20.5_ENST00000534420.1_5'Flank	NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	675	Required for association with Golgi.|Required for interaction with MSR1.				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)			GCAGGGAATGACCCTGCATAA	0.413			T	RET	papillary thyroid																																		Dom	yes		8	8p11.21	84376	hook homolog 3		E	0													65	64	64					8																	42873507		2203	4300	6503	SO:0001583	missense	84376			AK090540	CCDS6139.1	8p11.21	2013-08-21	2013-08-21		ENSG00000168172	ENSG00000168172			23576	protein-coding gene	gene with protein product		607825	"hook homolog 3 (Drosophila)"			9927460	Standard	NM_032410		Approved	HK3	uc003xpr.3	Q86VS8	OTTHUMG00000165278	ENST00000307602.4:c.2023A>G	8.37:g.42873507A>G	ENSP00000305699:p.Thr675Ala		D3DSY8|Q8NBH0|Q9BY13	Missense_Mutation	SNP	ENST00000307602.4	37	CCDS6139.1	.	.	.	.	.	.	.	.	.	.	A	0.531	-0.857910	0.02610	.	.	ENSG00000168172	ENST00000307602;ENST00000533539	T;T	0.16073	2.37;2.37	5.96	5.96	0.96718	.	0.183353	0.64402	D	0.000013	T	0.10723	0.0262	N	0.14661	0.345	0.43010	D	0.994546	B	0.12630	0.006	B	0.15052	0.012	T	0.12682	-1.0538	10	0.07644	T	0.81	-6.63	16.4484	0.83959	1.0:0.0:0.0:0.0	.	675	Q86VS8	HOOK3_HUMAN	A	675;153	ENSP00000305699:T675A;ENSP00000433953:T153A	ENSP00000305699:T675A	T	+	1	0	HOOK3	42992664	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.429000	0.59901	2.285000	0.76669	0.533000	0.62120	ACC		0.413	HOOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383172.2	NM_032410		G	42873507	A	G	42873507	3	3	734	1	0	0	0	0	1	0	0	0	7286	275	10	3	2109	3	HOOK3	8	42873507	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	576513	42873507	103490515	425	41844											
HGSNAT	138050	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	8	43052122	43052122	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:43052122G>A	ENST00000458501.2	+	15	1580	c.1580G>A	c.(1579-1581)cGg>cAg	p.R527Q	HGSNAT_ENST00000521576.1_Missense_Mutation_p.R216Q|HGSNAT_ENST00000379644.4_Missense_Mutation_p.R499Q|HGSNAT_ENST00000297798.7_Missense_Mutation_p.R231Q			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	527					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lysosomal transport (GO:0007041)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	heparan-alpha-glucosaminide N-acetyltransferase activity (GO:0015019)|transferase activity, transferring acyl groups (GO:0016746)			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			TACAAGGCTCGGACCAAAGAC	0.373																																																0													99	101	100					8																	43052122		1876	4112	5988	SO:0001583	missense	138050				CCDS47852.1	8p11.1	2011-11-16	2006-09-05	2006-08-16	ENSG00000165102	ENSG00000165102	2.3.1.78		26527	protein-coding gene	gene with protein product		610453	"transmembrane protein 76"	TMEM76		17033958, 16960811	Standard	NM_152419		Approved	FLJ32731, HGNAT	uc003xpx.4	Q68CP4	OTTHUMG00000164102	ENST00000458501.2:c.1580G>A	8.37:g.43052122G>A	ENSP00000389524:p.Arg527Gln		B4E2V0	Missense_Mutation	SNP	ENST00000458501.2	37		.	.	.	.	.	.	.	.	.	.	G	0.010	-1.751718	0.00663	.	.	ENSG00000165102	ENST00000458501;ENST00000379644;ENST00000521576;ENST00000297798	D;D;D;D	0.87491	-2.26;-2.26;-2.26;-2.26	5.26	1.18	0.20946	.	0.788509	0.11879	N	0.520667	T	0.59569	0.2203	N	0.00621	-1.32	0.09310	N	1	B	0.11235	0.004	B	0.01281	0.0	T	0.51795	-0.8660	10	0.08381	T	0.77	-1.9362	7.8652	0.29533	0.6653:0.0:0.3347:0.0	.	527	Q68CP4	HGNAT_HUMAN	Q	527;499;216;231	ENSP00000389524:R527Q;ENSP00000368965:R499Q;ENSP00000429029:R216Q;ENSP00000297798:R231Q	ENSP00000297798:R231Q	R	+	2	0	HGSNAT	43171279	0.990000	0.36364	0.946000	0.38457	0.021000	0.10359	0.726000	0.25984	-0.117000	0.11872	-1.851000	0.00568	CGG		0.373	HGSNAT-202	KNOWN	basic	protein_coding	protein_coding		XM_372038		A	43052122	G	A	43052122	3	1	734	1	0	0	0	0	1	0	0	0	7090	1116	39	1	1554	1	HGSNAT	8	43052122	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	178615	43052122	103311900	426	41845											
OPRK1	4986	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	8	54147439	54147439	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:54147439C>T	ENST00000265572.3	-	3	787	c.490G>A	c.(490-492)Gtg>Atg	p.V164M	OPRK1_ENST00000520287.1_Missense_Mutation_p.V164M|OPRK1_ENST00000524278.1_Missense_Mutation_p.V75M|RP11-162D9.3_ENST00000524425.1_RNA	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	164					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)	AAAGCCTTCACGGGGTGGCAC	0.488																																																0													116	95	102					8																	54147439		2203	4300	6503	SO:0001583	missense	4986				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.490G>A	8.37:g.54147439C>T	ENSP00000265572:p.Val164Met		E5RHC9|Q499G4	Missense_Mutation	SNP	ENST00000265572.3	37	CCDS6152.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.559329	0.86335	.	.	ENSG00000082556	ENST00000265572;ENST00000524278;ENST00000520287;ENST00000396798	T;T;T	0.20463	2.07;2.07;2.07	5.95	5.95	0.96441	GPCR, rhodopsin-like superfamily (1);	0.051660	0.85682	D	0.000000	T	0.49847	0.1581	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.42430	-0.9452	10	0.66056	D	0.02	.	20.3732	0.98896	0.0:1.0:0.0:0.0	.	164	P41145	OPRK_HUMAN	M	164;75;164;150	ENSP00000265572:V164M;ENSP00000430923:V75M;ENSP00000429706:V164M	ENSP00000265572:V164M	V	-	1	0	OPRK1	54309992	1.000000	0.71417	0.988000	0.46212	0.995000	0.86356	5.936000	0.70153	2.809000	0.96659	0.650000	0.86243	GTG		0.488	OPRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378048.1			T	54147439	C	T	54147439	3	4	734	1	0	0	0	0	1	0	0	0	10887	536	19	1	660	1	OPRK1	8	54147439	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	11095317	54147439	92216583	427	41846											
NSMAF	8439	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	8	59499082	59499082	+	Missense_Mutation	SNP	G	G	A	rs138530641		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:59499082G>A	ENST00000038176.3	-	28	2593	c.2381C>T	c.(2380-2382)aCg>aTg	p.T794M	NSMAF_ENST00000427130.2_Missense_Mutation_p.T825M	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	794					ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				TAAGGTGGCCGTTGTGAGGTC	0.408																																																0													207	179	188					8																	59499082		2203	4300	6503	SO:0001583	missense	8439			X96586	CCDS6173.1, CCDS47864.1	8q12-q13	2013-01-10			ENSG00000035681	ENSG00000035681		"WD repeat domain containing"	8017	protein-coding gene	gene with protein product		603043				8808629, 10640829	Standard	NM_003580		Approved	FAN	uc011lee.2	Q92636	OTTHUMG00000164352	ENST00000038176.3:c.2381C>T	8.37:g.59499082G>A	ENSP00000038176:p.Thr794Met		B4DFB0|E9PCH0|Q8IW26	Missense_Mutation	SNP	ENST00000038176.3	37	CCDS6173.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	19.95	3.920826	0.73213	.	.	ENSG00000035681	ENST00000038176;ENST00000427130	T;T	0.34667	1.35;1.35	5.96	5.96	0.96718	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.147538	0.64402	D	0.000007	T	0.55940	0.1952	M	0.88377	2.95	0.24266	N	0.99526	D;P	0.63046	0.992;0.916	P;B	0.47015	0.534;0.346	T	0.60464	-0.7258	9	.	.	.	.	20.4043	0.99006	0.0:0.0:1.0:0.0	.	825;794	Q92636-2;Q92636	.;FAN_HUMAN	M	794;825	ENSP00000038176:T794M;ENSP00000411012:T825M	.	T	-	2	0	NSMAF	59661636	0.998000	0.40836	0.011000	0.14972	0.610000	0.37248	8.862000	0.92283	2.823000	0.97156	0.650000	0.86243	ACG		0.408	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378384.1	NM_003580		A	59499082	G	A	59499082	3	1	734	1	0	0	0	0	1	0	0	0	10676	1145	40	1	388	1	NSMAF	8	59499082	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	5351643	59499082	86864940	428	41847											
CHD7	55636	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	8	61766042	61766042	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:61766042A>G	ENST00000423902.2	+	31	7237	c.6758A>G	c.(6757-6759)gAg>gGg	p.E2253G	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2253	Glu-rich.				adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			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)			AAGTCGGAAGAGTCTTCCCAG	0.557																																																0													58	61	60					8																	61766042		2042	4164	6206	SO:0001583	missense	55636			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"CHARGE association"	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.6758A>G	8.37:g.61766042A>G	ENSP00000392028:p.Glu2253Gly		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	A	18.16	3.562718	0.65538	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	T	0.74315	-0.83	5.41	5.41	0.78517	.	0.060626	0.64402	D	0.000003	T	0.66674	0.2813	L	0.40543	1.245	0.45806	D	0.998687	P	0.39480	0.675	B	0.37144	0.242	T	0.67201	-0.5730	10	0.35671	T	0.21	-23.5408	15.463	0.75373	1.0:0.0:0.0:0.0	.	2253	Q9P2D1	CHD7_HUMAN	G	2253	ENSP00000392028:E2253G	ENSP00000307304:E2253G	E	+	2	0	CHD7	61928596	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.393000	0.90182	2.055000	0.61198	0.533000	0.62120	GAG		0.557	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		G	61766042	A	G	61766042	3	3	734	1	0	0	0	0	1	0	0	0	3332	304	11	3	6876	3	CHD7	8	61766042	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	2266960	61766042	84597980	429	41848											
C8orf34	116328	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	8	69380981	69380981	+	Missense_Mutation	SNP	G	G	A	rs142064557		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:69380981G>A	ENST00000539993.1	+	4	953	c.404G>A	c.(403-405)cGt>cAt	p.R135H	C8orf34_ENST00000349492.3_Intron|C8orf34_ENST00000337103.4_Missense_Mutation_p.R110H|C8orf34_ENST00000348340.2_Missense_Mutation_p.R135H|C8orf34_ENST00000518698.1_Missense_Mutation_p.R221H			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	135										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)			CCACAAAGCCGTGATTTTGAT	0.378													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18960	0.0		0.0	False		,,,				2504	0.0															0								G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	107	97	101		662,662	3.5	1	8	dbSNP_134	101	12,8586	9.1+/-34.3	0,12,4287	yes	missense,missense	C8orf34	NM_001195639.1,NM_052958.2	29,29	0,13,6489	AA,AG,GG		0.1396,0.0227,0.1	benign,benign	221/374,221/539	69380981	13,12991	2203	4299	6502	SO:0001583	missense	116328			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.404G>A	8.37:g.69380981G>A	ENSP00000438159:p.Arg135His		A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	Missense_Mutation	SNP	ENST00000539993.1	37		.	.	.	.	.	.	.	.	.	.	G	17.45	3.393332	0.62066	2.27E-4	0.001396	ENSG00000165084	ENST00000518698;ENST00000539993;ENST00000348340;ENST00000337103	T;T;T	0.48836	0.8;0.84;0.83	5.51	3.45	0.39498	.	0.173617	0.52532	N	0.000061	T	0.26738	0.0654	N	0.16066	0.365	0.38916	D	0.957645	B;B	0.15473	0.013;0.001	B;B	0.13407	0.009;0.001	T	0.08743	-1.0707	9	.	.	.	-7.1312	9.0069	0.36117	0.2677:0.0:0.7323:0.0	.	135;135	Q49A92;Q49A92-3	CH034_HUMAN;.	H	221;135;135;110	ENSP00000427820:R221H;ENSP00000438159:R135H;ENSP00000337174:R110H	.	R	+	2	0	C8orf34	69543535	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.461000	0.45040	1.315000	0.45114	0.591000	0.81541	CGT		0.378	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_052958		A	69380981	G	A	69380981	3	1	734	1	0	0	0	0	1	0	0	0	2424	1145	40	1	339	1	C8orf34	8	69380981	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	7614939	69380981	76983041	430	41849											
EYA1	2138	broad.mit.edu;ucsc.edu;mdanderson.org	37	8	72129051	72129051	+	Silent	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:72129051T>C	ENST00000340726.3	-	14	1875	c.1236A>G	c.(1234-1236)gcA>gcG	p.A412A	EYA1_ENST00000303824.7_Silent_p.A406A|EYA1_ENST00000388743.2_Silent_p.A411A|EYA1_ENST00000388741.2_Silent_p.A378A|EYA1_ENST00000388742.4_Silent_p.A412A|EYA1_ENST00000388740.3_Silent_p.A379A|EYA1_ENST00000419131.1_Silent_p.A377A	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	412					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)			CACTGGTTGCTGCAGCAGGAA	0.443																																																0													129	118	122					8																	72129051		2203	4300	6503	SO:0001819	synonymous_variant	2138			AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"Protein tyrosine phosphatases / Asp-based PTPs"	3519	protein-coding gene	gene with protein product		601653	"eyes absent (Drosophila) homolog 1", "eyes absent homolog 1 (Drosophila)"	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.1236A>G	8.37:g.72129051T>C			A6NHQ0|G5E9R4|Q0P516|Q8WX80	Silent	SNP	ENST00000340726.3	37	CCDS34906.1																																																																																				0.443	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313788.2	NM_000503, NM_172060		C	72129051	T	C	72129051	2	2	734	1	0	0	0	0	0	0	0	1	5330	1567	55	3		3	EYA1	8	72129051	Silent	SNP	T	TCGA-KN-8428-01A-11D-2310-10	2748070	72129051	74234971	431	41850											
ZFHX4	79776	broad.mit.edu	37	8	77763332	77763332	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:77763332G>A	ENST00000521891.2	+	10	4623	c.4175G>A	c.(4174-4176)cGt>cAt	p.R1392H	ZFHX4_ENST00000050961.6_Missense_Mutation_p.R1347H|ZFHX4_ENST00000518282.1_Missense_Mutation_p.R1366H|ZFHX4_ENST00000455469.2_Missense_Mutation_p.R1347H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1347					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)	p.R1392H(1)		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)			GTTTCTGACCGTCATGTCTAC	0.418										HNSCC(33;0.089)																																						1	Substitution - Missense(1)	endometrium(1)											98	92	94					8																	77763332		1890	4115	6005	SO:0001583	missense	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.4175G>A	8.37:g.77763332G>A	ENSP00000430497:p.Arg1392His		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	17.15	3.316211	0.60524	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.55588	0.51;0.58;0.55;0.53	4.65	4.65	0.58169	.	0.000000	0.45361	U	0.000366	T	0.72407	0.3456	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.994;0.997;0.997	T	0.75844	-0.3174	10	0.72032	D	0.01	.	18.1305	0.89599	0.0:0.0:1.0:0.0	.	1347;1347;1392	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	H	1392;1392;1347;1347;1366	ENSP00000430497:R1392H;ENSP00000399605:R1347H;ENSP00000050961:R1347H;ENSP00000430848:R1366H	ENSP00000050961:R1347H	R	+	2	0	ZFHX4	77925887	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.601000	0.98297	2.593000	0.87608	0.555000	0.69702	CGT		0.418	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		A	77763332	G	A	77763332	3	1	734	1	0	0	0	0	1	0	0	0	17640	1145	40	1	4209	1	ZFHX4	8	77763332	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	5634281	77763332	68600690	432	41851											
ZFHX4	79776	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	8	77775707	77775707	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:77775707G>A	ENST00000521891.2	+	11	10205	c.9757G>A	c.(9757-9759)Gac>Aac	p.D3253N	ZFHX4_ENST00000050961.6_Missense_Mutation_p.D3204N|ZFHX4_ENST00000518282.1_Missense_Mutation_p.D3227N|ZFHX4_ENST00000455469.2_Missense_Mutation_p.D3208N	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3204					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)			AATTGCTGGTGACCCAGCTTC	0.458										HNSCC(33;0.089)																																						0													163	155	157					8																	77775707		1899	4122	6021	SO:0001583	missense	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.9757G>A	8.37:g.77775707G>A	ENSP00000430497:p.Asp3253Asn		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	15.96	2.987704	0.53934	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.58797	0.31;0.37;0.34;0.34	4.55	4.55	0.56014	.	0.000000	0.44688	U	0.000421	T	0.75339	0.3836	M	0.72894	2.215	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.78443	-0.2202	10	0.66056	D	0.02	.	17.8708	0.88810	0.0:0.0:1.0:0.0	.	3208	Q86UP3-4	.	N	3253;3237;3208;3204;3227	ENSP00000430497:D3253N;ENSP00000399605:D3208N;ENSP00000050961:D3204N;ENSP00000430848:D3227N	ENSP00000050961:D3204N	D	+	1	0	ZFHX4	77938262	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.715000	0.84713	2.525000	0.85131	0.561000	0.74099	GAC		0.458	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		A	77775707	G	A	77775707	3	1	734	1	0	0	0	0	1	0	0	0	17640	1290	45	2	9795	2	ZFHX4	8	77775707	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	12375	77775707	68588315	433	41852											
IMPA1	3612	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	8	82571603	82571603	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:82571603G>A	ENST00000256108.5	-	9	1282	c.817C>T	c.(817-819)Cga>Tga	p.R273*	IMPA1_ENST00000449740.2_Nonsense_Mutation_p.R332*|IMPA1_ENST00000523710.1_5'Flank|IMPA1_ENST00000311489.4_3'UTR	NM_005536.3	NP_005527.1	P29218	IMPA1_HUMAN	inositol(myo)-1(or 4)-monophosphatase 1	273					inositol biosynthetic process (GO:0006021)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|inositol monophosphate 1-phosphatase activity (GO:0008934)|inositol monophosphate 3-phosphatase activity (GO:0052832)|inositol monophosphate 4-phosphatase activity (GO:0052833)|inositol monophosphate phosphatase activity (GO:0052834)|lithium ion binding (GO:0031403)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|stomach(1)	18					Lithium(DB01356)	TCGTCGTCTCGTTGCAAAGGT	0.378																																																0													154	145	148					8																	82571603		2203	4300	6503	SO:0001587	stop_gained	3612				CCDS6231.1, CCDS47883.1, CCDS47884.1	8q21.1-q21.3	2008-01-28			ENSG00000133731	ENSG00000133731	3.1.3.25		6050	protein-coding gene	gene with protein product		602064		IMPA		1377913	Standard	NM_005536		Approved		uc011lfq.1	P29218	OTTHUMG00000164682	ENST00000256108.5:c.817C>T	8.37:g.82571603G>A	ENSP00000256108:p.Arg273*		B2R733|B4DLN3|B7Z6Q4|J3KQT7|Q9UK71	Nonsense_Mutation	SNP	ENST00000256108.5	37	CCDS6231.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.550978	0.45383	.	.	ENSG00000133731	ENST00000256108;ENST00000449740	.	.	.	5.03	1.01	0.19927	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.37532	D	0.91796	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.1317	14.7679	0.69654	0.0:0.0:0.5226:0.4774	.	.	.	.	X	273;332	.	ENSP00000256108:R273X	R	-	1	2	IMPA1	82734158	0.424000	0.25490	0.965000	0.40720	0.445000	0.32107	0.749000	0.26320	0.270000	0.21984	0.643000	0.83706	CGA		0.378	IMPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379723.1			A	82571603	G	A	82571603	4	1	734	1	0	0	0	0	0	1	0	0	7724	1153	40	1	20	1	IMPA1	8	82571603	Nonsense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	4795896	82571603	63792419	434	41853											
DECR1	1666	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	8	91029431	91029431	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:91029431C>T	ENST00000220764.2	+	2	237	c.149C>T	c.(148-150)gCg>gTg	p.A50V	DECR1_ENST00000522161.1_Missense_Mutation_p.A41V|DECR1_ENST00000519007.1_3'UTR	NM_001359.1	NP_001350.1	Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1, mitochondrial	50					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	2,4-dienoyl-CoA reductase (NADPH) activity (GO:0008670)|NADPH binding (GO:0070402)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15			BRCA - Breast invasive adenocarcinoma(11;0.00953)			CTTCAAAAAGCGATGCTACCA	0.373																																																0													87	90	89					8																	91029431		2203	4300	6503	SO:0001583	missense	1666			L26050	CCDS6250.1	8q21.3	2011-09-14			ENSG00000104325	ENSG00000104325		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	2753	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 18C, member 1"	222745		DECR		7818482, 19027726	Standard	NM_001359		Approved	SDR18C1	uc003yek.1	Q16698	OTTHUMG00000163829	ENST00000220764.2:c.149C>T	8.37:g.91029431C>T	ENSP00000220764:p.Ala50Val		B7Z6B8|Q2M304|Q93085	Missense_Mutation	SNP	ENST00000220764.2	37	CCDS6250.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.066121	0.55539	.	.	ENSG00000104325	ENST00000220764;ENST00000519410;ENST00000522161;ENST00000517761	D;D;D;D	0.85484	-1.78;-1.99;-1.89;-1.94	5.88	-1.48	0.08745	.	0.894138	0.09830	N	0.750295	T	0.61739	0.2371	N	0.02225	-0.63	0.20764	N	0.999859	B;B	0.09022	0.002;0.0	B;B	0.01281	0.0;0.0	T	0.49224	-0.8962	10	0.07813	T	0.8	.	11.1284	0.48333	0.0:0.3047:0.0:0.6953	.	41;50	B7Z6B8;Q16698	.;DECR_HUMAN	V	50;28;41;41	ENSP00000220764:A50V;ENSP00000430561:A28V;ENSP00000429779:A41V;ENSP00000427936:A41V	ENSP00000220764:A50V	A	+	2	0	DECR1	91098607	0.000000	0.05858	0.639000	0.29394	0.890000	0.51754	-0.171000	0.09883	-0.145000	0.11294	0.655000	0.94253	GCG		0.373	DECR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375822.1			T	91029431	C	T	91029431	3	4	734	1	0	0	0	0	1	0	0	0	4384	768	27	1	155	1	DECR1	8	91029431	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	8457828	91029431	55334591	435	41854											
KIAA1429	25962	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	8	95541376	95541376	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:95541376G>A	ENST00000297591.5	-	7	877	c.802C>T	c.(802-804)Cga>Tga	p.R268*	KIAA1429_ENST00000421249.2_Nonsense_Mutation_p.R268*|KIAA1429_ENST00000437199.1_Nonsense_Mutation_p.R268*	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	268	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)			ACTGTTCGTCGATCATCCTCA	0.438																																																0													481	365	404					8																	95541376		2203	4300	6503	SO:0001587	stop_gained	25962			AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 121"					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.802C>T	8.37:g.95541376G>A	ENSP00000297591:p.Arg268*		Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Nonsense_Mutation	SNP	ENST00000297591.5	37	CCDS34923.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.274705	0.59649	.	.	ENSG00000164944	ENST00000297591;ENST00000437199;ENST00000421249	.	.	.	5.23	2.08	0.27032	.	0.680837	0.15074	N	0.282015	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-2.3219	3.9535	0.09379	0.0992:0.3855:0.3966:0.1187	.	.	.	.	X	268	.	ENSP00000297591:R268X	R	-	1	2	KIAA1429	95610552	0.997000	0.39634	0.986000	0.45419	0.463000	0.32649	3.068000	0.50018	0.674000	0.31244	-0.230000	0.12252	CGA		0.438	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		A	95541376	G	A	95541376	4	1	734	1	0	0	0	0	0	1	0	0	8233	1066	37	1	4762	1	KIAA1429	8	95541376	Nonsense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	4511945	95541376	50822646	436	41855											
MATN2	4147	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	8	98943420	98943420	+	Missense_Mutation	SNP	C	C	T	rs377009254		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:98943420C>T	ENST00000520016.1	+	2	506	c.382C>T	c.(382-384)Cgg>Tgg	p.R128W	MATN2_ENST00000522025.2_Intron|MATN2_ENST00000254898.5_Missense_Mutation_p.R128W|MATN2_ENST00000521689.1_Missense_Mutation_p.R128W|MATN2_ENST00000524308.1_Missense_Mutation_p.R128W			O00339	MATN2_HUMAN	matrilin 2	128	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.R128W(1)		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)			CAAGAGGATGCGGCATCTGTC	0.587																																																1	Substitution - Missense(1)	large_intestine(1)						C	TRP/ARG,TRP/ARG	1,4261		0,1,2130	55	60	59		382,382	0.8	1	8		59	0,8508		0,0,4254	no	missense,missense	MATN2	NM_002380.3,NM_030583.2	101,101	0,1,6384	TT,TC,CC		0.0,0.0235,0.0078	probably-damaging,probably-damaging	128/957,128/938	98943420	1,12769	2131	4254	6385	SO:0001583	missense	4147			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.382C>T	8.37:g.98943420C>T	ENSP00000430487:p.Arg128Trp		A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Missense_Mutation	SNP	ENST00000520016.1	37	CCDS55264.1	.	.	.	.	.	.	.	.	.	.	C	19.44	3.827179	0.71143	2.35E-4	0.0	ENSG00000132561	ENST00000521689;ENST00000254898;ENST00000378716;ENST00000524308;ENST00000520016	T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27	5.97	0.813	0.18749	von Willebrand factor, type A (3);	0.081678	0.51477	D	0.000095	D	0.83594	0.5288	L	0.59436	1.845	0.31865	N	0.620505	D;D;D;D	0.89917	0.999;0.998;1.0;0.999	D;D;D;P	0.64877	0.93;0.921;0.91;0.873	D	0.85514	0.1199	10	0.59425	D	0.04	-22.3411	15.5484	0.76126	0.4575:0.5425:0.0:0.0	.	128;128;128;128	E9PF03;O00339-2;O00339;Q8N2G3	.;.;MATN2_HUMAN;.	W	128	ENSP00000429977:R128W;ENSP00000254898:R128W;ENSP00000430221:R128W;ENSP00000430487:R128W	ENSP00000254898:R128W	R	+	1	2	MATN2	99012596	0.996000	0.38824	0.998000	0.56505	0.997000	0.91878	0.484000	0.22308	-0.083000	0.12618	0.655000	0.94253	CGG		0.587	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380332.1			T	98943420	C	T	98943420	3	4	734	1	0	0	0	0	1	0	0	0	9336	759	27	1	388	1	MATN2	8	98943420	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	3402044	98943420	47420602	437	41856											
AZIN1	51582	broad.mit.edu;mdanderson.org	37	8	103848546	103848546	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:103848546C>T	ENST00000337198.5	-	6	1685	c.522G>A	c.(520-522)ctG>ctA	p.L174L	AZIN1_ENST00000522311.1_5'UTR|AZIN1_ENST00000347770.4_Silent_p.L174L	NM_148174.2	NP_680479.1	O14977	AZIN1_HUMAN	antizyme inhibitor 1	174					cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|negative regulation of protein catabolic process (GO:0042177)|polyamine biosynthetic process (GO:0006596)|positive regulation of polyamine transmembrane transport (GO:1902269)|regulation of cellular amino acid metabolic process (GO:0006521)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|enzyme inhibitor activity (GO:0004857)|ornithine decarboxylase activator activity (GO:0042978)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	9	Lung NSC(17;0.000143)|all_lung(17;0.000294)		OV - Ovarian serous cystadenocarcinoma(57;0.000196)|STAD - Stomach adenocarcinoma(118;0.0414)			TACAGTTCTTCAGGGTAGTGC	0.393																																																0													212	195	201					8																	103848546		2203	4300	6503	SO:0001819	synonymous_variant	51582			AAC25391	CCDS6295.1	8p22-q21.3	2005-03-21	2005-03-21	2005-03-21		ENSG00000155096			16432	protein-coding gene	gene with protein product	"ornithine decarboxylase 1-like"	607909	"ornithine decarboxylase antizyme inhibitor"	OAZIN		9349715, 9110174	Standard	XM_005250969		Approved	OAZI, ODC1L	uc003yky.3	O14977		ENST00000337198.5:c.522G>A	8.37:g.103848546C>T			A6NCD5|Q6IBQ7|Q96D20	Silent	SNP	ENST00000337198.5	37	CCDS6295.1																																																																																				0.393	AZIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380133.1			T	103848546	C	T	103848546	2	4	734	1	0	0	0	0	0	0	0	1	1242	813	29	2		2	AZIN1	8	103848546	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	4905126	103848546	42515476	438	41857											
SYBU	55638	broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	110587782	110587782	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:110587782T>C	ENST00000422135.1	-	8	1860	c.1345A>G	c.(1345-1347)Acc>Gcc	p.T449A	SYBU_ENST00000528647.1_Missense_Mutation_p.T448A|SYBU_ENST00000529690.1_Missense_Mutation_p.T319A|SYBU_ENST00000424158.2_Missense_Mutation_p.T454A|SYBU_ENST00000408908.2_Missense_Mutation_p.T449A|SYBU_ENST00000446070.2_Missense_Mutation_p.T448A|SYBU_ENST00000527707.1_5'Flank|SYBU_ENST00000528331.1_Missense_Mutation_p.T330A|SYBU_ENST00000533171.1_Missense_Mutation_p.T449A|SYBU_ENST00000419099.1_Missense_Mutation_p.T448A|SYBU_ENST00000533895.1_Missense_Mutation_p.T448A|SYBU_ENST00000399066.3_Missense_Mutation_p.T446A|SYBU_ENST00000529175.1_Missense_Mutation_p.T243A|SYBU_ENST00000276646.9_Missense_Mutation_p.T449A|SYBU_ENST00000440310.1_Missense_Mutation_p.T449A|SYBU_ENST00000532779.1_Missense_Mutation_p.T381A|SYBU_ENST00000408889.3_Missense_Mutation_p.T330A|SYBU_ENST00000433638.1_Missense_Mutation_p.T449A|SYBU_ENST00000533065.1_Missense_Mutation_p.T330A	NM_001099744.1	NP_001093214.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	449					regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|dense body (GO:0097433)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						TCTGTGGTGGTGGCTGTCACT	0.567																																																0													141	145	144					8																	110587782		2092	4222	6314	SO:0001583	missense	55638			AB040905	CCDS43763.1, CCDS43764.1, CCDS47912.1, CCDS55271.1	8q23.2	2010-08-27				ENSG00000147642			26011	protein-coding gene	gene with protein product	"syntaphilin-like"	611568				17611281, 16750881, 16157705, 15656992, 15459722	Standard	NM_001099743		Approved	FLJ20366, GOLSYN, KIAA1472, OCSYN, SNPHL	uc003ynj.4	Q9NX95		ENST00000422135.1:c.1345A>G	8.37:g.110587782T>C	ENSP00000407118:p.Thr449Ala		A8K354|B3KQX3|B3KU61|Q5R1T1|Q5R1T2|Q5R1T3|Q5Y2M6|Q8ND49|Q8TCR6|Q96D80|Q9P256	Missense_Mutation	SNP	ENST00000422135.1	37	CCDS47912.1	.	.	.	.	.	.	.	.	.	.	T	1.806	-0.475920	0.04414	.	.	ENSG00000147642	ENST00000533895;ENST00000424158;ENST00000532779;ENST00000399066;ENST00000446070;ENST00000528331;ENST00000529175;ENST00000276646;ENST00000528647;ENST00000422135;ENST00000419099;ENST00000433638;ENST00000408908;ENST00000440310;ENST00000408889;ENST00000533065;ENST00000529690;ENST00000533171	.	.	.	5.74	-5.88	0.02290	.	0.372415	0.32593	N	0.005895	T	0.19127	0.0459	N	0.12182	0.205	0.09310	N	1	B;B;B;B;B	0.16166	0.016;0.009;0.004;0.009;0.005	B;B;B;B;B	0.17722	0.007;0.007;0.019;0.016;0.016	T	0.07809	-1.0753	9	0.33141	T	0.24	-0.0912	11.2815	0.49197	0.0:0.5089:0.1016:0.3895	.	319;381;448;449;446	B7Z4D2;Q9NX95-2;Q9NX95-3;Q9NX95;Q9NX95-4	.;.;.;SYBU_HUMAN;.	A	448;454;381;446;448;330;243;449;448;449;448;449;449;449;330;330;319;449	.	ENSP00000276646:T449A	T	-	1	0	SYBU	110656958	0.683000	0.27633	0.000000	0.03702	0.009000	0.06853	0.142000	0.16096	-1.122000	0.02945	-0.326000	0.08463	ACC		0.567	SYBU-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385501.1	NM_017786		C	110587782	T	C	110587782	3	2	734	1	0	0	0	0	1	0	0	0	15432	1696	59	3	650	3	SYBU	8	110587782	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	6739236	110587782	35776240	439	41858											
CSMD3	114788	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	8	113657336	113657336	+	Splice_Site	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:113657336A>G	ENST00000297405.5	-	20	3555		c.e20+1		CSMD3_ENST00000352409.3_Splice_Site|MIR2053_ENST00000459295.1_RNA|CSMD3_ENST00000455883.2_Splice_Site|CSMD3_ENST00000343508.3_Splice_Site	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3							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						GAGGCAAATTACCTTTTCCAT	0.343										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																						0													85	85	85					8																	113657336		2203	4300	6503	SO:0001630	splice_region_variant	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.3310+1T>C	8.37:g.113657336A>G			Q96PZ3	Splice_Site	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	13.72	2.321813	0.41096	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4053	0.83662	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CSMD3	113726512	1.000000	0.71417	1.000000	0.80357	0.345000	0.29048	5.160000	0.64929	2.333000	0.79357	0.482000	0.46254	.		0.343	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	Intron	G	113657336	A	G	113657336	5	3	734	1	0	0	0	0	0	0	1	0	3948	405	14	3	8019	3	CSMD3	8	113657336	Splice_Site	SNP	A	TCGA-KN-8428-01A-11D-2310-10	3069554	113657336	32706686	440	41859											
TRPS1	7227	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	8	116430676	116430676	+	Missense_Mutation	SNP	C	C	T	rs549374718		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:116430676C>T	ENST00000220888.5	-	5	2825	c.2666G>A	c.(2665-2667)cGt>cAt	p.R889H	TRPS1_ENST00000520276.1_Missense_Mutation_p.R893H|TRPS1_ENST00000395715.3_Missense_Mutation_p.R902H|TRPS1_ENST00000519076.1_Missense_Mutation_p.R643H			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	889					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GGAGCCTCTACGCCTCTGAAA	0.478									Langer-Giedion syndrome				C|||	1	0.000199681	0.0	0.0	5008	,	,		19725	0.0		0.0	False		,,,				2504	0.001															0													91	93	92					8																	116430676		1913	4124	6037	SO:0001583	missense	7227	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"GATA zinc finger domain containing", "Zinc fingers, C2H2-type"	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.2666G>A	8.37:g.116430676C>T	ENSP00000220888:p.Arg889His		B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37		.	.	.	.	.	.	.	.	.	.	C	19.18	3.777453	0.70107	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276	D;D;D;D	0.99683	-6.39;-6.39;-6.39;-6.39	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.99402	0.9789	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.998	D	0.99601	1.0978	10	0.72032	D	0.01	.	20.0805	0.97772	0.0:1.0:0.0:0.0	.	893;889;902	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	H	902;889;643;893	ENSP00000379065:R902H;ENSP00000220888:R889H;ENSP00000428910:R643H;ENSP00000428680:R893H	ENSP00000220888:R889H	R	-	2	0	TRPS1	116499852	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	4.899000	0.63245	2.755000	0.94549	0.650000	0.86243	CGT		0.478	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		T	116430676	C	T	116430676	3	4	734	1	0	0	0	0	1	0	0	0	16598	536	19	1	1187	1	TRPS1	8	116430676	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	2773340	116430676	29933346	441	41860											
ENPP2	5168	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	8	120606001	120606001	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:120606001C>T	ENST00000075322.6	-	12	1130	c.1072G>A	c.(1072-1074)Gga>Aga	p.G358R	ENPP2_ENST00000427067.2_Missense_Mutation_p.G354R|ENPP2_ENST00000522826.1_Missense_Mutation_p.G358R|ENPP2_ENST00000522167.1_5'Flank|ENPP2_ENST00000259486.6_Missense_Mutation_p.G410R	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	358					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)			CCATGGTCTCCGACAAAGATG	0.393																																					Melanoma(20;305 879 2501 4818 31020)											0													239	223	229					8																	120606001		2203	4300	6503	SO:0001583	missense	5168			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.1072G>A	8.37:g.120606001C>T	ENSP00000075322:p.Gly358Arg		A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	ENST00000075322.6	37	CCDS34936.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.261552	0.80358	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522826;ENST00000075322	T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.77	5.26	5.26	0.73747	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.89577	0.6755	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;1.0	D	0.91579	0.5277	10	0.87932	D	0	.	19.2484	0.93912	0.0:1.0:0.0:0.0	.	358;358;410	E9PHP7;Q13822;Q13822-2	.;ENPP2_HUMAN;.	R	410;354;358;358	ENSP00000259486:G410R;ENSP00000403315:G354R;ENSP00000428291:G358R;ENSP00000075322:G358R	ENSP00000075322:G358R	G	-	1	0	ENPP2	120675182	1.000000	0.71417	0.998000	0.56505	0.544000	0.35116	7.750000	0.85110	2.629000	0.89072	0.655000	0.94253	GGA		0.393	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			T	120606001	C	T	120606001	3	4	734	1	0	0	0	0	1	0	0	0	5132	661	23	1	1654	1	ENPP2	8	120606001	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	4175325	120606001	25758021	442	41861											
ENPP2	5168	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	8	120628543	120628543	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:120628543G>A	ENST00000075322.6	-	8	797	c.739C>T	c.(739-741)Cga>Tga	p.R247*	ENPP2_ENST00000427067.2_Nonsense_Mutation_p.R243*|ENPP2_ENST00000522826.1_Nonsense_Mutation_p.R247*|ENPP2_ENST00000259486.6_Nonsense_Mutation_p.R247*	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	247	Substrate binding. {ECO:0000250}.				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)			AATTTCTCTCGCCCTCGCAGA	0.378																																					Melanoma(20;305 879 2501 4818 31020)											0													132	117	122					8																	120628543		2203	4300	6503	SO:0001587	stop_gained	5168			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.739C>T	8.37:g.120628543G>A	ENSP00000075322:p.Arg247*		A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Nonsense_Mutation	SNP	ENST00000075322.6	37	CCDS34936.1	.	.	.	.	.	.	.	.	.	.	G	19.81	3.896837	0.72639	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522826;ENST00000075322;ENST00000520066	.	.	.	5.55	3.71	0.42584	.	0.124216	0.53938	D	0.000060	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	13.5977	0.62000	0.0:0.0:0.5932:0.4068	.	.	.	.	X	247;243;247;247;229	.	ENSP00000075322:R247X	R	-	1	2	ENPP2	120697724	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	2.426000	0.44731	0.662000	0.31006	0.563000	0.77884	CGA		0.378	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			A	120628543	G	A	120628543	4	1	734	1	0	0	0	0	0	1	0	0	5132	1095	38	1	2163	1	ENPP2	8	120628543	Nonsense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	22542	120628543	25735479	443	41862											
ZHX2	22882	broad.mit.edu;ucsc.edu;mdanderson.org	37	8	123964437	123964437	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:123964437C>T	ENST00000314393.4	+	3	1522	c.687C>T	c.(685-687)ctC>ctT	p.L229L		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	229	Required for homodimerization.				mRNA catabolic process (GO:0006402)|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)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	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)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			TCTCGAGACTCGGCGGGGTGG	0.587																																					Esophageal Squamous(94;1056 1388 11767 13799 49639)											0													109	118	115					8																	123964437		2203	4300	6503	SO:0001819	synonymous_variant	22882			AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	18513	protein-coding gene	gene with protein product		609185	"zinc-fingers and homeoboxes 2"			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.687C>T	8.37:g.123964437C>T				Silent	SNP	ENST00000314393.4	37	CCDS6336.1																																																																																				0.587	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381709.1	NM_014943		T	123964437	C	T	123964437	2	4	734	1	0	0	0	0	0	0	0	1	17681	871	31	1		1	ZHX2	8	123964437	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	3335894	123964437	22399585	444	41863											
TG	7038	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	8	133953625	133953625	+	Missense_Mutation	SNP	C	C	T	rs375968742	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:133953625C>T	ENST00000220616.4	+	26	5111	c.5071C>T	c.(5071-5073)Cgc>Tgc	p.R1691C	TG_ENST00000377869.1_Missense_Mutation_p.R1634C|TG_ENST00000542445.1_Intron	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1691					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)		ACTTCAGAAACGCTTTGAACC	0.463													A|||	7	0.00139776	0.0	0.0	5008	,	,		23317	0.0		0.0	False		,,,				2504	0.0072															0								A	CYS/ARG	1,4405		0,1,2202	150	133	139		5071	0.6	0.7	8		139	0,8600		0,0,4300	no	missense	TG	NM_003235.4	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	1691/2769	133953625	1,13005	2203	4300	6503	SO:0001583	missense	7038			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.5071C>T	8.37:g.133953625C>T	ENSP00000220616:p.Arg1691Cys		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	A	16.68	3.189246	0.57909	2.27E-4	0.0	ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616	T;T	0.64803	-0.12;-0.12	5.81	0.561	0.17285	.	0.450057	0.22625	N	0.057643	T	0.43055	0.1230	L	0.40543	1.245	0.24772	N	0.992862	P	0.40000	0.698	B	0.31547	0.132	T	0.33828	-0.9853	10	0.72032	D	0.01	.	5.9363	0.19167	0.4205:0.4254:0.1541:0.0	.	1691	P01266	THYG_HUMAN	C	1634;497;1691	ENSP00000367100:R1634C;ENSP00000220616:R1691C	ENSP00000220616:R1691C	R	+	1	0	TG	134022807	0.953000	0.32496	0.655000	0.29622	0.347000	0.29111	0.752000	0.26362	-0.381000	0.07882	-0.525000	0.04345	CGC		0.463	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		T	133953625	C	T	133953625	3	4	734	1	0	0	0	0	1	0	0	0	15818	536	19	1	5173	1	TG	8	133953625	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	9989188	133953625	12410397	445	41864											
ZFAT	57623	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	8	135615108	135615108	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:135615108G>A	ENST00000377838.3	-	6	1028	c.854C>T	c.(853-855)tCg>tTg	p.S285L	ZFAT_ENST00000520727.1_Missense_Mutation_p.S273L|ZFAT_ENST00000523399.1_Missense_Mutation_p.S223L|ZFAT_ENST00000520356.1_Missense_Mutation_p.S273L|ZFAT-AS1_ENST00000505776.1_RNA|ZFAT_ENST00000520214.1_Missense_Mutation_p.S273L|ZFAT_ENST00000429442.2_Missense_Mutation_p.S273L	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	285					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)			GGCCTGCAGCGAGTGCTTGAA	0.507																																																0													99	101	100					8																	135615108		2001	4172	6173	SO:0001583	missense	57623			BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"Zinc fingers, C2H2-type"	19899	protein-coding gene	gene with protein product		610931	"zinc finger protein 406"	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.854C>T	8.37:g.135615108G>A	ENSP00000367069:p.Ser285Leu		B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	ENST00000377838.3	37	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	G	32	5.148713	0.94603	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399;ENST00000398946	T;T;T;T;T;T	0.07444	3.19;3.19;3.19;3.19;3.19;3.19	6.04	6.04	0.98038	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	0.18676	0.0448	N	0.21373	0.66	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;P	0.91635	0.999;0.999;0.996;0.908	T	0.03852	-1.0998	10	0.29301	T	0.29	-11.6166	19.583	0.95478	0.0:0.0:1.0:0.0	.	223;273;273;285	E9PER3;E9PBN4;Q9P243-3;Q9P243	.;.;.;ZFAT_HUMAN	L	273;273;273;285;273;273;223;273	ENSP00000427879:S273L;ENSP00000427831:S273L;ENSP00000394501:S273L;ENSP00000367069:S285L;ENSP00000428483:S273L;ENSP00000429091:S223L	ENSP00000326997:S273L	S	-	2	0	ZFAT	135684290	1.000000	0.71417	0.970000	0.41538	0.986000	0.74619	8.004000	0.88535	2.873000	0.98535	0.563000	0.77884	TCG		0.507	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		A	135615108	G	A	135615108	3	1	734	1	0	0	0	0	1	0	0	0	17637	1059	37	1	2921	1	ZFAT	8	135615108	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1661483	135615108	10748914	446	41865											
DENND3	22898	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	8	142178160	142178160	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:142178160C>T	ENST00000262585.2	+	13	1849	c.1571C>T	c.(1570-1572)cCg>cTg	p.P524L	DENND3_ENST00000519811.1_Missense_Mutation_p.P604L|DENND3_ENST00000424248.1_Missense_Mutation_p.P472L	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	524					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)			ATCCACTTTCCGCTGGAGAGC	0.527																																																0													119	114	116					8																	142178160		2203	4300	6503	SO:0001583	missense	22898			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.1571C>T	8.37:g.142178160C>T	ENSP00000262585:p.Pro524Leu		B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Missense_Mutation	SNP	ENST00000262585.2	37	CCDS34947.1	.	.	.	.	.	.	.	.	.	.	C	19.58	3.854990	0.71719	.	.	ENSG00000105339	ENST00000262585;ENST00000424248;ENST00000519811	T;T;T	0.18338	2.6;2.22;2.58	5.36	5.36	0.76844	.	0.270437	0.43110	D	0.000610	T	0.32376	0.0827	M	0.74881	2.28	0.80722	D	1	D;D;D	0.60160	0.979;0.987;0.979	P;P;P	0.48089	0.512;0.566;0.512	T	0.19192	-1.0313	10	0.87932	D	0	-7.7876	19.08	0.93178	0.0:1.0:0.0:0.0	.	604;472;524	E9PF32;A2RUS2-2;A2RUS2	.;.;DEND3_HUMAN	L	524;472;604	ENSP00000262585:P524L;ENSP00000410594:P472L;ENSP00000428714:P604L	ENSP00000262585:P524L	P	+	2	0	DENND3	142247342	1.000000	0.71417	0.895000	0.35142	0.237000	0.25408	6.606000	0.74159	2.513000	0.84729	0.462000	0.41574	CCG		0.527	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014957		T	142178160	C	T	142178160	3	4	734	1	0	0	0	0	1	0	0	0	4434	652	23	1	1617	1	DENND3	8	142178160	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	6563052	142178160	4185862	447	41866											
FLJ43860	389690	broad.mit.edu;ucsc.edu;mdanderson.org	37	8	142477562	142477562	+	RNA	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:142477562G>A	ENST00000430863.1	-	0	2339					NM_207414.2	NP_997297.2	Q6ZUA9	MROH5_HUMAN	maestro heat-like repeat family member 5																		CTGCCTGCACGCGGAAGGGGC	0.667																																																0													35	41	39					8																	142477562		2054	4193	6247			389690					8q24.3	2012-12-20			ENSG00000226807	ENSG00000226807		"maestro heat-like repeat containing"	42976	protein-coding gene	gene with protein product							Standard	NM_207414		Approved	FLJ43860	uc003ywi.2	Q6ZUA9	OTTHUMG00000155944		8.37:g.142477562G>A				Silent	SNP	ENST00000430863.1	37																																																																																					0.667	MROH5-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000342412.4	NM_207414		A	142477562	G	A	142477562	1	1	734	0	1	0	0	0	0	0	0	0	5932	1074	38	1		1	FLJ43860	8	142477562	RNA	SNP	G	TCGA-KN-8428-01A-11D-2310-10	299402	142477562	3886460	448	41867											
BAI1	575	broad.mit.edu	37	8	143566068	143566068	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:143566068G>A	ENST00000517894.1	+	13	3145	c.2251G>A	c.(2251-2253)Gtc>Atc	p.V751I	BAI1_ENST00000323289.5_Missense_Mutation_p.V751I			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	751					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)					CTTTGTGGACGTCATCGGCTT	0.657																																																0													36	47	44					8																	143566068		2073	4196	6269	SO:0001583	missense	575			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.2251G>A	8.37:g.143566068G>A	ENSP00000430945:p.Val751Ile			Missense_Mutation	SNP	ENST00000517894.1	37		.	.	.	.	.	.	.	.	.	.	G	14.84	2.655014	0.47467	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.10573	2.86;2.86	4.8	4.8	0.61643	.	0.093782	0.42964	U	0.000624	T	0.14141	0.0342	L	0.32530	0.975	0.46396	D	0.999021	D	0.60160	0.987	P	0.52758	0.708	T	0.08432	-1.0722	10	0.08837	T	0.75	.	16.4232	0.83773	0.0:0.0:1.0:0.0	.	751	E9PBK0	.	I	751	ENSP00000430945:V751I;ENSP00000313046:V751I	ENSP00000313046:V751I	V	+	1	0	BAI1	143563070	1.000000	0.71417	0.998000	0.56505	0.861000	0.49209	5.244000	0.65400	2.211000	0.71520	0.313000	0.20887	GTC		0.657	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		A	143566068	G	A	143566068	3	1	734	1	0	0	0	0	1	0	0	0	1298	1145	40	1	2297	1	BAI1	8	143566068	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1088506	143566068	2797954	449	41868											
JRK	8629	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	8	143746611	143746611	+	RNA	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:143746611C>T	ENST00000507178.2	-	0	1199							O75564	JERKY_HUMAN	Jrk homolog (mouse)							nucleus (GO:0005634)	DNA binding (GO:0003677)					all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)				tgctgtcttccggcaaaccta	0.557																																																0													19	23	22					8																	143746611		1479	2859	4338			8629			AF072467	CCDS75796.1, CCDS75797.1	8q24.3	2014-03-28	2014-03-28			ENSG00000234616			6199	protein-coding gene	gene with protein product		603210	"jerky (mouse) homolog", "jerky homolog (mouse)"			9675132	Standard	NM_003724		Approved	JH8, jerky	uc003ywo.3	O75564			8.37:g.143746611C>T			O75565	Silent	SNP	ENST00000507178.2	37																																																																																					0.557	JRK-003	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000362914.1	NM_003724		T	143746611	C	T	143746611	1	4	734	0	1	0	0	0	0	0	0	0	7966	639	23	1		1	JRK	8	143746611	RNA	SNP	C	TCGA-KN-8428-01A-11D-2310-10	180543	143746611	2617411	450	41869											
MAPK15	225689	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	8	144800421	144800421	+	Missense_Mutation	SNP	G	G	A	rs140275267		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:144800421G>A	ENST00000338033.4	+	4	354	c.235G>A	c.(235-237)Gtg>Atg	p.V79M	MAPK15_ENST00000395107.4_Missense_Mutation_p.V79M|RP11-429J17.5_ENST00000527908.1_RNA|MAPK15_ENST00000395108.2_Missense_Mutation_p.V79M	NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	79	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)			CCTCCTTGACGTGATCCGGGC	0.617																																																0													71	59	63					8																	144800421		2203	4300	6503	SO:0001583	missense	225689			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.235G>A	8.37:g.144800421G>A	ENSP00000337691:p.Val79Met		Q2TCF9|Q8N362	Missense_Mutation	SNP	ENST00000338033.4	37	CCDS6409.2	.	.	.	.	.	.	.	.	.	.	g	17.45	3.391744	0.62066	.	.	ENSG00000181085	ENST00000338033;ENST00000395107;ENST00000395108	T;T;T	0.67171	-0.25;-0.25;-0.25	5.31	4.43	0.53597	Serine/threonine-protein kinase-like domain (1);MAP kinase, conserved site (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.80989	0.4730	M	0.75447	2.3	0.58432	D	0.999991	D	0.89917	1.0	D	0.85130	0.997	D	0.83512	0.0081	10	0.87932	D	0	-6.6704	14.54	0.67987	0.0:0.1599:0.8401:0.0	.	79	Q8TD08	MK15_HUMAN	M	79	ENSP00000337691:V79M;ENSP00000378539:V79M;ENSP00000378540:V79M	ENSP00000337691:V79M	V	+	1	0	MAPK15	144872409	1.000000	0.71417	0.967000	0.41034	0.077000	0.17291	6.539000	0.73856	1.228000	0.43614	-0.416000	0.06073	GTG		0.617	MAPK15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000300348.1	NM_139021		A	144800421	G	A	144800421	3	1	734	1	0	0	0	0	1	0	0	0	9279	1145	40	1	249	1	MAPK15	8	144800421	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1053810	144800421	1563601	451	41870											
EPPK1	83481	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	8	144942815	144942815	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:144942815G>A	ENST00000525985.1	-	2	4678	c.4607C>T	c.(4606-4608)gCg>gTg	p.A1536V				P58107	EPIPL_HUMAN	epiplakin 1	1536						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)			GATCAGCTGCGCCCTGAACAG	0.652																																																0													18	19	19					8																	144942815		2077	4207	6284	SO:0001583	missense	83481			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.4607C>T	8.37:g.144942815G>A	ENSP00000436337:p.Ala1536Val		Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37		.	.	.	.	.	.	.	.	.	.	G	14.69	2.611441	0.46631	.	.	ENSG00000227184	ENST00000525985	T	0.69435	-0.4	4.56	4.56	0.56223	.	.	.	.	.	T	0.54481	0.1861	L	0.36672	1.1	0.20074	N	0.999939	P	0.49862	0.929	B	0.35770	0.21	T	0.54248	-0.8322	9	0.49607	T	0.09	.	14.8833	0.70550	0.0:0.0:1.0:0.0	.	1536	E9PPU0	.	V	1536	ENSP00000436337:A1536V	ENSP00000436337:A1536V	A	-	2	0	EPPK1	145014803	0.229000	0.23729	0.010000	0.14722	0.547000	0.35210	2.624000	0.46444	2.361000	0.80049	0.591000	0.81541	GCG		0.652	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		A	144942815	G	A	144942815	3	1	734	1	0	0	0	0	1	0	0	0	5192	1087	38	1	2659	1	EPPK1	8	144942815	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	142394	144942815	1421207	452	41871											
PLEC	5339	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	8	144995547	144995547	+	Silent	SNP	G	G	A	rs186703073	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:144995547G>A	ENST00000322810.4	-	32	9022	c.8853C>T	c.(8851-8853)ggC>ggT	p.G2951G	PLEC_ENST00000357649.2_Silent_p.G2818G|PLEC_ENST00000356346.3_Silent_p.G2800G|PLEC_ENST00000398774.2_Silent_p.G2782G|PLEC_ENST00000354958.2_Silent_p.G2792G|PLEC_ENST00000527096.1_Silent_p.G2837G|PLEC_ENST00000345136.3_Silent_p.G2814G|PLEC_ENST00000436759.2_Silent_p.G2841G|PLEC_ENST00000354589.3_Silent_p.G2814G	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2951	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						GGTCGATAACGCCGCCCGTGG	0.682													G|||	3	0.000599042	0.0	0.0014	5008	,	,		17217	0.001		0.001	False		,,,				2504	0.0															0								G	,,,,,,,	0,3998		0,0,1999	50	55	53		8523,8400,8376,8853,8346,8442,8454,8442	3.2	0.9	8		53	6,8288		0,6,4141	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	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	,,,,,,,	0,6,6140	AA,AG,GG		0.0723,0.0,0.0488	,,,,,,,	2841/4575,2800/4534,2792/4526,2951/4685,2782/4516,2814/4548,2818/4552,2814/4548	144995547	6,12286	1999	4147	6146	SO:0001819	synonymous_variant	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.8853C>T	8.37:g.144995547G>A			Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																				0.682	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		A	144995547	G	A	144995547	2	1	734	1	0	0	0	0	0	0	0	1	12054	1074	38	1		1	PLEC	8	144995547	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	52732	144995547	1368475	453	41872											
SPATC1	375686	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	8	145094825	145094825	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:145094825C>T	ENST00000377470.3	+	2	329	c.227C>T	c.(226-228)cCg>cTg	p.P76L	SPATC1_ENST00000447830.2_Missense_Mutation_p.P76L	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)			TTCCTGCCCCCGTCCCCAGCA	0.627																																																0													68	74	72					8																	145094825		2203	4300	6503	SO:0001583	missense	375686			BC053547	CCDS6413.2, CCDS47937.1	8q24.3	2005-01-11			ENSG00000186583	ENSG00000186583			30510	protein-coding gene	gene with protein product		610874				15280373	Standard	NM_198572		Approved	MGC61633, SPATA15, SPERIOLIN	uc011lkw.2	Q76KD6	OTTHUMG00000156976	ENST00000377470.3:c.227C>T	8.37:g.145094825C>T	ENSP00000366690:p.Pro76Leu		B4DWW9|Q5U5I8|Q7Z6L7	Missense_Mutation	SNP	ENST00000377470.3	37	CCDS6413.2	.	.	.	.	.	.	.	.	.	.	C	11.50	1.658372	0.29425	.	.	ENSG00000186583	ENST00000377470;ENST00000447830	T;T	0.51817	0.69;0.69	5.05	2.79	0.32731	.	0.577983	0.15653	N	0.251268	T	0.54415	0.1857	M	0.66939	2.045	0.09310	N	1	D;B	0.67145	0.996;0.354	P;B	0.57548	0.823;0.025	T	0.46205	-0.9208	10	0.66056	D	0.02	-14.049	3.7743	0.08654	0.2336:0.6174:0.0:0.149	.	76;76	B4DWW9;Q76KD6	.;SPERI_HUMAN	L	76	ENSP00000366690:P76L;ENSP00000387613:P76L	ENSP00000366690:P76L	P	+	2	0	SPATC1	145166813	0.000000	0.05858	0.006000	0.13384	0.561000	0.35649	0.087000	0.14958	1.218000	0.43458	0.650000	0.86243	CCG		0.627	SPATC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346926.1	NM_198572		T	145094825	C	T	145094825	3	4	734	1	0	0	0	0	1	0	0	0	15022	652	23	1	233	1	SPATC1	8	145094825	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	99278	145094825	1269197	454	41873											
GPAA1	8733	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	8	145138659	145138659	+	Missense_Mutation	SNP	C	C	T	rs550126943		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:145138659C>T	ENST00000355091.4	+	4	530	c.409C>T	c.(409-411)Cgt>Tgt	p.R137C	GPAA1_ENST00000361036.6_Missense_Mutation_p.R77C|GPAA1_ENST00000527144.1_3'UTR	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	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)|protein complex assembly (GO:0006461)|protein retention in ER lumen (GO:0006621)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	tubulin binding (GO:0015631)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCGGGCCCCGCGTGCTGCCAG	0.642													C|||	1	0.000199681	0.0	0.0	5008	,	,		17087	0.001		0.0	False		,,,				2504	0.0															0													24	28	27					8																	145138659		2135	4234	6369	SO:0001583	missense	8733			AB006969	CCDS43776.1	8q24.3	2012-12-10	2012-12-10		ENSG00000197858	ENSG00000197858			4446	protein-coding gene	gene with protein product	"GPI transamidase subunit"	603048	"anchor attachment protein 1 (Gaa1p, yeast) homolog", "GPAA1P anchor attachment protein 1 homolog (yeast)", "glycosylphosphatidylinositol anchor attachment protein 1 homolog (yeast)"			9828142	Standard	NM_003801		Approved	GAA1, hGAA1	uc003zax.3	O43292	OTTHUMG00000165438	ENST00000355091.4:c.409C>T	8.37:g.145138659C>T	ENSP00000347206:p.Arg137Cys		Q9NSS0|Q9UQ31	Missense_Mutation	SNP	ENST00000355091.4	37	CCDS43776.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.152259	0.57259	.	.	ENSG00000197858	ENST00000355091;ENST00000361036;ENST00000524418	.	.	.	5.43	4.47	0.54385	.	0.056860	0.64402	D	0.000004	D	0.83529	0.5274	M	0.88979	2.995	0.49798	D	0.999822	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.978	D	0.86726	0.1945	9	0.87932	D	0	-14.242	14.4603	0.67445	0.1574:0.8426:0.0:0.0	.	137;77	O43292;O43292-2	GPAA1_HUMAN;.	C	137;77;137	.	ENSP00000347206:R137C	R	+	1	0	GPAA1	145210647	0.992000	0.36948	0.362000	0.25862	0.665000	0.39181	3.122000	0.50446	2.543000	0.85770	0.462000	0.41574	CGT		0.642	GPAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384070.1	NM_003801		T	145138659	C	T	145138659	3	4	734	1	0	0	0	0	1	0	0	0	6589	768	27	1	423	1	GPAA1	8	145138659	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	43834	145138659	1225363	455	41874											
GPAA1	8733	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	8	145139221	145139221	+	Silent	SNP	G	G	A	rs189367473		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:145139221G>A	ENST00000355091.4	+	6	922	c.801G>A	c.(799-801)acG>acA	p.T267T	GPAA1_ENST00000361036.6_Silent_p.T207T|GPAA1_ENST00000527144.1_3'UTR	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	267					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein complex assembly (GO:0006461)|protein retention in ER lumen (GO:0006621)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	tubulin binding (GO:0015631)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGTTGTGCACGCTTCAGGGCA	0.627													G|||	1	0.000199681	0.0	0.0	5008	,	,		19669	0.001		0.0	False		,,,				2504	0.0															0													47	50	49					8																	145139221		2062	4196	6258	SO:0001819	synonymous_variant	8733			AB006969	CCDS43776.1	8q24.3	2012-12-10	2012-12-10		ENSG00000197858	ENSG00000197858			4446	protein-coding gene	gene with protein product	"GPI transamidase subunit"	603048	"anchor attachment protein 1 (Gaa1p, yeast) homolog", "GPAA1P anchor attachment protein 1 homolog (yeast)", "glycosylphosphatidylinositol anchor attachment protein 1 homolog (yeast)"			9828142	Standard	NM_003801		Approved	GAA1, hGAA1	uc003zax.3	O43292	OTTHUMG00000165438	ENST00000355091.4:c.801G>A	8.37:g.145139221G>A			Q9NSS0|Q9UQ31	Silent	SNP	ENST00000355091.4	37	CCDS43776.1																																																																																				0.627	GPAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384070.1	NM_003801		A	145139221	G	A	145139221	2	1	734	1	0	0	0	0	0	0	0	1	6589	1074	38	1		1	GPAA1	8	145139221	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	562	145139221	1224801	456	41875											
NFKBIL2	4796	hgsc.bcm.edu;ucsc.edu	37	8	145668062	145668062	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:145668062C>T	ENST00000409379.3	-	5	605	c.576G>A	c.(574-576)gcG>gcA	p.A192A	AC084125.4_ENST00000442850.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	192					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						GGCCTTACTCCGCAAGGAAGA	0.567																																																0													112	113	113					8																	145668062		2203	4300	6503	SO:0001819	synonymous_variant	4796				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.576G>A	8.37:g.145668062C>T			B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Silent	SNP	ENST00000409379.3	37	CCDS34968.2																																																																																				0.567	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329668.2	NM_013432		T	145668062	C	T	145668062	2	4	734	1	0	0	0	0	0	0	0	1	10384	639	23	1		1	NFKBIL2	8	145668062	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	528841	145668062	695960	457	41876											
LRRC14	9684	broad.mit.edu;mdanderson.org;bcgsc.ca	37	8	145746758	145746758	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:145746758G>A	ENST00000292524.1	+	4	1524	c.1378G>A	c.(1378-1380)Gta>Ata	p.V460I	LRRC14_ENST00000529022.1_Missense_Mutation_p.V460I	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	460										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)			GTTTGCCCGCGTAGAAGCTGA	0.627																																																0													41	41	41					8																	145746758		2203	4299	6502	SO:0001583	missense	9684			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.1378G>A	8.37:g.145746758G>A	ENSP00000292524:p.Val460Ile		A8K0A8|D3DWM8	Missense_Mutation	SNP	ENST00000292524.1	37	CCDS6432.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.523003	0.27211	.	.	ENSG00000160959	ENST00000529022;ENST00000292524	T;T	0.01538	4.79;4.79	4.65	3.77	0.43336	.	0.223478	0.37906	N	0.001893	T	0.02494	0.0076	L	0.42632	1.34	0.09310	N	1	D	0.55605	0.972	P	0.46718	0.525	T	0.41910	-0.9482	10	0.09084	T	0.74	.	12.4806	0.55839	0.0:0.17:0.8299:0.0	.	460	Q15048	LRC14_HUMAN	I	460	ENSP00000434768:V460I;ENSP00000292524:V460I	ENSP00000292524:V460I	V	+	1	0	LRRC14	145717566	0.981000	0.34729	0.065000	0.19835	0.000000	0.00434	4.925000	0.63425	1.170000	0.42753	-0.175000	0.13238	GTA		0.627	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382494.1	NM_014665		A	145746758	G	A	145746758	3	1	734	1	0	0	0	0	1	0	0	0	8970	1145	40	1	1388	1	LRRC14	8	145746758	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	78696	145746758	617264	458	41877											
RPL8	6132	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	8	146015277	146015277	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:146015277G>A	ENST00000262584.3	-	6	918	c.686C>T	c.(685-687)gCc>gTc	p.A229V	RPL8_ENST00000529163.1_5'UTR|ZNF34_ENST00000343459.4_5'Flank|ZNF34_ENST00000429371.2_5'Flank|RPL8_ENST00000394920.2_Missense_Mutation_p.A229V|RPL8_ENST00000527914.1_Missense_Mutation_p.A120V|RPL8_ENST00000528957.1_Missense_Mutation_p.A229V	NM_000973.3	NP_000964.1	P62917	RL8_HUMAN	ribosomal protein L8	229					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			kidney(12)|lung(7)|prostate(1)	20	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.191)		GCCAGCAGGGGCATCTCTGCG	0.592																																																0													108	109	109					8																	146015277		2203	4300	6503	SO:0001583	missense	6132			Z28407	CCDS6433.1	8q24.3	2011-04-06			ENSG00000161016	ENSG00000161016		"L ribosomal proteins"	10368	protein-coding gene	gene with protein product		604177				7506540, 9582194	Standard	NM_033301		Approved	L8	uc003zec.3	P62917	OTTHUMG00000165249	ENST00000262584.3:c.686C>T	8.37:g.146015277G>A	ENSP00000262584:p.Ala229Val		A8K094|D3DWN2|P25120|Q567Q7|Q969V7|Q9BWQ9	Missense_Mutation	SNP	ENST00000262584.3	37	CCDS6433.1	.	.	.	.	.	.	.	.	.	.	G	33	5.289544	0.95517	.	.	ENSG00000161016	ENST00000394920;ENST00000527914;ENST00000262584;ENST00000534813;ENST00000533397	D;D;D;D	0.95690	-3.78;-3.78;-3.78;-3.78	4.85	4.85	0.62838	Translation protein SH3-like (1);Ribosomal protein L2, domain 3 (1);Ribosomal protein L2, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97892	0.9307	H	0.96239	3.79	0.80722	D	1	P;B	0.35714	0.517;0.026	P;B	0.48114	0.567;0.014	D	0.99552	1.0966	10	0.72032	D	0.01	-16.033	15.8928	0.79312	0.0:0.0:1.0:0.0	.	229;193	P62917;E9PIZ3	RL8_HUMAN;.	V	229;120;229;193;208	ENSP00000378378:A229V;ENSP00000436460:A120V;ENSP00000262584:A229V;ENSP00000435313:A208V	ENSP00000262584:A229V	A	-	2	0	RPL8	145986081	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.425000	0.90270	2.422000	0.82143	0.555000	0.69702	GCC		0.592	RPL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382948.1	NM_000973		A	146015277	G	A	146015277	3	1	734	1	0	0	0	0	1	0	0	0	13608	1203	42	2	91	2	RPL8	8	146015277	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	268519	146015277	348745	459	41878											
SMARCA2	6595	broad.mit.edu;mdanderson.org	37	9	2191375	2191375	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:2191375C>T	ENST00000382203.1	+	33	4913	c.4704C>T	c.(4702-4704)agC>agT	p.S1568S	SMARCA2_ENST00000357248.2_Silent_p.S1550S|SMARCA2_ENST00000382185.1_Silent_p.S214S|SMARCA2_ENST00000349721.2_Silent_p.S1568S|SMARCA2_ENST00000302401.3_Silent_p.S256S|SMARCA2_ENST00000324954.5_Silent_p.S214S|SMARCA2_ENST00000382194.1_Silent_p.S1550S|SMARCA2_ENST00000382186.1_Silent_p.S232S			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1568					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)		CTGTAGTGAGCGATTTTGACA	0.493																																																0													176	140	152					9																	2191375		2203	4300	6503	SO:0001819	synonymous_variant	6595			D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.4704C>T	9.37:g.2191375C>T			B1ALG3|B1ALG4|D3DRH4|D3DRH5	Silent	SNP	ENST00000382203.1	37	CCDS34977.1																																																																																				0.493	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		T	2191375	C	T	2191375	2	4	734	1	0	0	0	0	0	0	0	1	14775	767	27	1		1	SMARCA2	9	2191375	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10		2191375	139022056	460	41879											
PTPRD	5789	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	9	8485823	8485823	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:8485823C>T	ENST00000381196.4	-	25	3537	c.2994G>A	c.(2992-2994)acG>acA	p.T998T	PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000358503.5_Silent_p.T976T|PTPRD_ENST00000360074.4_Silent_p.T985T|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000540109.1_Silent_p.T998T|PTPRD_ENST00000356435.5_Silent_p.T998T	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	998	Fibronectin type-III 7. {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)		GCCCTTTGCTCGTATGAGCAC	0.493										TSP Lung(15;0.13)																																						0													102	89	94					9																	8485823		2203	4300	6503	SO:0001819	synonymous_variant	5789			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.2994G>A	9.37:g.8485823C>T			B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Silent	SNP	ENST00000381196.4	37	CCDS43786.1																																																																																				0.493	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			T	8485823	C	T	8485823	2	4	734	1	0	0	0	0	0	0	0	1	12805	871	31	1		1	PTPRD	9	8485823	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	6294448	8485823	132727608	461	41880											
PTPRD	5789	broad.mit.edu	37	9	8507359	8507359	+	Missense_Mutation	SNP	C	C	T	rs371642520		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:8507359C>T	ENST00000381196.4	-	19	2162	c.1619G>A	c.(1618-1620)cGt>cAt	p.R540H	PTPRD_ENST00000397611.3_Missense_Mutation_p.R537H|PTPRD_ENST00000355233.5_Missense_Mutation_p.R540H|PTPRD_ENST00000358503.5_Missense_Mutation_p.R527H|PTPRD_ENST00000360074.4_Missense_Mutation_p.R527H|PTPRD_ENST00000486161.1_Missense_Mutation_p.R540H|PTPRD_ENST00000397617.3_Missense_Mutation_p.R530H|PTPRD_ENST00000397606.3_Missense_Mutation_p.R530H|PTPRD_ENST00000537002.1_Missense_Mutation_p.R537H|PTPRD_ENST00000540109.1_Missense_Mutation_p.R540H|PTPRD_ENST00000356435.5_Missense_Mutation_p.R540H	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	540	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GGTATCTGAACGTGGAGGTGT	0.448										TSP Lung(15;0.13)																																						0								C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	227	201	209		1610,1589,1619,1619,1619,1601	6.1	1	9		209	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense,missense,missense,missense	PTPRD	NM_001040712.2,NM_001171025.1,NM_002839.3,NM_130391.3,NM_130392.3,NM_130393.3	29,29,29,29,29,29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	537/1503,530/1506,540/1913,540/1506,540/1507,534/1497	8507359	2,13004	2203	4300	6503	SO:0001583	missense	5789			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.1619G>A	9.37:g.8507359C>T	ENSP00000370593:p.Arg540His		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.574809	0.86542	0.0	2.33E-4	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.58060	0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36	6.06	6.06	0.98353	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.053957	0.85682	D	0.000000	T	0.68641	0.3023	L	0.52266	1.64	0.50813	D	0.999898	D;D;D;P;D;D;B;D;D	0.76494	0.985;0.97;0.985;0.938;0.999;0.963;0.44;0.984;0.995	P;P;P;P;D;P;B;P;D	0.68353	0.666;0.666;0.666;0.666;0.955;0.536;0.069;0.767;0.957	T	0.62732	-0.6792	9	.	.	.	.	20.6397	0.99537	0.0:1.0:0.0:0.0	.	530;534;540;540;537;537;527;540;540	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	H	540;540;527;527;540;530;537;537;540;540;540;530	ENSP00000370593:R540H;ENSP00000348812:R540H;ENSP00000353187:R527H;ENSP00000351293:R527H;ENSP00000347373:R540H;ENSP00000380741:R530H;ENSP00000380735:R537H;ENSP00000440515:R537H;ENSP00000438164:R540H;ENSP00000417093:R540H;ENSP00000380731:R530H	.	R	-	2	0	PTPRD	8497359	0.999000	0.42202	0.998000	0.56505	0.958000	0.62258	1.867000	0.39499	2.880000	0.98712	0.650000	0.86243	CGT		0.448	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			T	8507359	C	T	8507359	3	4	734	1	0	0	0	0	1	0	0	0	12805	536	19	1	4287	1	PTPRD	9	8507359	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	21536	8507359	132706072	462	41881											
BNC2	54796	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	9	16552695	16552695	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:16552695C>T	ENST00000380672.4	-	5	559	c.502G>A	c.(502-504)Gtg>Atg	p.V168M	BNC2_ENST00000380666.2_Missense_Mutation_p.V168M|BNC2_ENST00000545497.1_Missense_Mutation_p.V73M|BNC2_ENST00000380667.2_Missense_Mutation_p.V101M	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)		ATGTCAAACACGACGTTGGAC	0.562																																																0													141	113	123					9																	16552695		2203	4300	6503	SO:0001583	missense	54796			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.502G>A	9.37:g.16552695C>T	ENSP00000370047:p.Val168Met			Missense_Mutation	SNP	ENST00000380672.4	37	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	C	34	5.384721	0.95967	.	.	ENSG00000173068	ENST00000380672;ENST00000418777;ENST00000456672;ENST00000436939;ENST00000380667;ENST00000545497;ENST00000380666;ENST00000540340;ENST00000451290	T;T;T;T;T	0.03860	3.78;3.78;3.78;3.78;3.78	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.23806	0.0576	M	0.69823	2.125	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.998	D;D;D;D;D	0.91635	0.999;0.996;0.996;0.988;0.967	T	0.00018	-1.2373	10	0.87932	D	0	-19.1872	20.4366	0.99092	0.0:1.0:0.0:0.0	.	73;205;168;126;168	F5H586;Q06HC4;Q6ZN30-2;Q5H9S4;Q6ZN30	.;.;.;.;BNC2_HUMAN	M	168;125;205;196;101;73;168;168;91	ENSP00000370047:V168M;ENSP00000408370:V125M;ENSP00000370042:V101M;ENSP00000444640:V73M;ENSP00000370041:V168M	ENSP00000370041:V168M	V	-	1	0	BNC2	16542695	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.818000	0.86416	2.837000	0.97791	0.591000	0.81541	GTG		0.562	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		T	16552695	C	T	16552695	3	4	734	1	0	0	0	0	1	0	0	0	1475	536	19	1	2809	1	BNC2	9	16552695	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	8045336	16552695	124660736	463	41882											
PLIN2	123	broad.mit.edu;mdanderson.org;bcgsc.ca	37	9	19121114	19121114	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:19121114G>A	ENST00000276914.2	-	5	538	c.359C>T	c.(358-360)aCg>aTg	p.T120M	PLIN2_ENST00000411567.1_Missense_Mutation_p.T120M	NM_001122.3	NP_001113.2	Q99541	PLIN2_HUMAN	perilipin 2	120					cellular lipid metabolic process (GO:0044255)|lipid storage (GO:0019915)|long-chain fatty acid transport (GO:0015909)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						CACAGTAGTCGTCACAGCATC	0.532																																																0													100	84	90					9																	19121114		2203	4300	6503	SO:0001583	missense	123			X97324	CCDS6490.1	9p22.1	2009-08-12	2009-08-12	2009-08-12	ENSG00000147872	ENSG00000147872		"Perilipins"	248	protein-coding gene	gene with protein product	"adipophilin"	103195	"adipose differentiation-related protein"	ADFP		9003395, 19638644	Standard	NM_001122		Approved	ADRP	uc003zno.3	Q99541	OTTHUMG00000019624	ENST00000276914.2:c.359C>T	9.37:g.19121114G>A	ENSP00000276914:p.Thr120Met		Q9BSC3	Missense_Mutation	SNP	ENST00000276914.2	37	CCDS6490.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.431934	0.62844	.	.	ENSG00000147872	ENST00000411567;ENST00000276914;ENST00000434144	T;T;T	0.06142	3.87;3.87;3.34	5.27	2.36	0.29203	.	0.901065	0.09834	N	0.749763	T	0.21427	0.0516	M	0.78637	2.42	0.21897	N	0.999485	P;D	0.89917	0.716;1.0	B;D	0.78314	0.207;0.991	T	0.10730	-1.0617	10	0.34782	T	0.22	.	6.7118	0.23282	0.1485:0.0:0.7089:0.1425	.	120;120	E9PG83;Q99541	.;PLIN2_HUMAN	M	120	ENSP00000415270:T120M;ENSP00000276914:T120M;ENSP00000403421:T120M	ENSP00000276914:T120M	T	-	2	0	PLIN2	19111114	1.000000	0.71417	0.457000	0.27056	0.879000	0.50718	5.870000	0.69620	0.297000	0.22615	0.555000	0.69702	ACG		0.532	PLIN2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051835.1	NM_001122		A	19121114	G	A	19121114	3	1	734	1	0	0	0	0	1	0	0	0	12092	1145	40	1	970	1	PLIN2	9	19121114	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	2568419	19121114	122092317	464	41883											
LINGO2	158038	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	9	27949033	27949033	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:27949033G>T	ENST00000379992.2	-	6	2086	c.1637C>A	c.(1636-1638)gCt>gAt	p.A546D	LINGO2_ENST00000308675.3_Missense_Mutation_p.A546D	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	546						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GCAGCCCATAGCTGTAGACAC	0.448																																																0													125	114	118					9																	27949033		2203	4300	6503	SO:0001583	missense	158038			AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"Immunoglobulin superfamily / I-set domain containing"	21207	protein-coding gene	gene with protein product		609793	"leucine rich repeat neuronal 6C"	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.1637C>A	9.37:g.27949033G>T	ENSP00000369328:p.Ala546Asp		A8K4K7|B2RPM5|Q6ZMD0	Missense_Mutation	SNP	ENST00000379992.2	37	CCDS6524.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.564630	0.65651	.	.	ENSG00000174482	ENST00000379992;ENST00000308675	T;T	0.58940	0.3;0.3	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.76090	0.3939	M	0.69823	2.125	0.80722	D	1	D	0.71674	0.998	D	0.71656	0.974	T	0.73962	-0.3817	9	.	.	.	.	20.1184	0.97949	0.0:0.0:1.0:0.0	.	546	Q7L985	LIGO2_HUMAN	D	546	ENSP00000369328:A546D;ENSP00000310126:A546D	.	A	-	2	0	LINGO2	27939033	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.769000	0.95229	0.655000	0.94253	GCT		0.448	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	NM_152570		T	27949033	G	T	27949033	3	4	734	1	0	0	0	0	1	0	0	0	8817	971	34	4	187	4	LINGO2	9	27949033	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	8827919	27949033	113264398	465	41884											
CCL27	10850	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	9	34661943	34661943	+	Nonstop_Mutation	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:34661943A>G	ENST00000259631.4	-	3	395	c.337T>C	c.(337-339)Tga>Cga	p.*113R	RP11-195F19.30_ENST00000564224.1_RNA|CCL27_ENST00000557161.1_5'UTR	NM_006664.2	NP_006655.1	Q9Y4X3	CCL27_HUMAN	chemokine (C-C motif) ligand 27	0					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|immune response (GO:0006955)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)			kidney(1)|large_intestine(3)|ovary(1)	5	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		TGGGGGCTTCAGCCCATTTTC	0.453																																																0													86	96	93					9																	34661943		2203	4300	6503	SO:0001578	stop_lost	10850			AJ243542	CCDS6569.1	9p13	2014-05-16	2002-08-22	2002-08-23	ENSG00000213927	ENSG00000213927		"Chemokine ligands", "Endogenous ligands"	10626	protein-coding gene	gene with protein product	"CC chemokine ILC", "IL-11 Ralpha-locus chemokine", "cutaneous T-cell attracting chemokine"	604833	"small inducible cytokine subfamily A (Cys-Cys), member 27"	SCYA27		10556532, 10588729	Standard	NM_006664		Approved	ALP, ILC, CTACK, skinkine, ESkine, PESKY, CTAK	uc003zvm.1	Q9Y4X3	OTTHUMG00000019834	ENST00000259631.4:c.337T>C	9.37:g.34661943A>G	ENSP00000259631:p.*113Glyext*4			Missense_Mutation	SNP	ENST00000259631.4	37	CCDS6569.1	.	.	.	.	.	.	.	.	.	.	A	1.604	-0.525897	0.04141	.	.	ENSG00000213927	ENST00000259631	.	.	.	4.33	-7.15	0.01521	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.5354	0.17007	0.3557:0.0:0.4179:0.2263	.	.	.	.	R	113	.	.	X	-	1	0	CCL27	34651943	0.000000	0.05858	0.000000	0.03702	0.522000	0.34438	-0.630000	0.05502	-1.556000	0.01695	-0.256000	0.11100	TGA		0.453	CCL27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052228.1	NM_006664		G	34661943	A	G	34661943	4	3	734	1	0	0	0	0	0	0	0	0	2901	201	7	3	5	3	CCL27	9	34661943	Nonstop_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	6712910	34661943	106551488	466	41885											
PIGO	84720	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	9	35095327	35095327	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:35095327C>T	ENST00000378617.3	-	2	630	c.236G>A	c.(235-237)cGa>cAa	p.R79Q	PIGO_ENST00000361778.2_Missense_Mutation_p.R79Q|PIGO_ENST00000341666.3_Missense_Mutation_p.R79Q|PIGO_ENST00000298004.5_Missense_Mutation_p.R79Q|RP11-182N22.8_ENST00000431804.1_RNA|PIGO_ENST00000492770.1_5'UTR	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	79					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)			GAAGTCAAATCGCAGAGCATC	0.602																																																0													102	102	102					9																	35095327		2203	4300	6503	SO:0001583	missense	84720			AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"Phosphatidylinositol glycan anchor biosynthesis"	23215	protein-coding gene	gene with protein product		614730	"phosphatidylinositol glycan, class O"			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.236G>A	9.37:g.35095327C>T	ENSP00000367880:p.Arg79Gln		B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Missense_Mutation	SNP	ENST00000378617.3	37	CCDS6575.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.577399	0.86645	.	.	ENSG00000165282	ENST00000298004;ENST00000378617;ENST00000341666;ENST00000361778	T;T;T;T	0.35048	1.33;1.33;1.33;1.33	5.54	5.54	0.83059	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.094005	0.48767	D	0.000164	T	0.59783	0.2219	M	0.91038	3.17	0.42183	D	0.991692	D;D	0.69078	0.981;0.997	B;P	0.57425	0.43;0.82	T	0.68481	-0.5397	10	0.72032	D	0.01	-37.321	9.3963	0.38404	0.0:0.8023:0.0:0.1977	.	79;79	Q8TEQ8-2;Q8TEQ8	.;PIGO_HUMAN	Q	79	ENSP00000298004:R79Q;ENSP00000367880:R79Q;ENSP00000339382:R79Q;ENSP00000354678:R79Q	ENSP00000298004:R79Q	R	-	2	0	PIGO	35085327	0.991000	0.36638	1.000000	0.80357	0.914000	0.54420	1.499000	0.35671	2.628000	0.89032	0.563000	0.77884	CGA		0.602	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	NM_032634		T	35095327	C	T	35095327	3	4	734	1	0	0	0	0	1	0	0	0	11896	884	31	1	3073	1	PIGO	9	35095327	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	433384	35095327	106118104	467	41886											
UNC13B	10497	broad.mit.edu;mdanderson.org;bcgsc.ca	37	9	35396917	35396917	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:35396917C>T	ENST00000378495.3	+	27	3490	c.3268C>T	c.(3268-3270)Cga>Tga	p.R1090*	UNC13B_ENST00000481299.1_3'UTR|UNC13B_ENST00000378496.4_Nonsense_Mutation_p.R1090*|UNC13B_ENST00000396787.1_Nonsense_Mutation_p.R1102*	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	1090	MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				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)			GGCCCTGGAACGAGATAAGAA	0.552																																																0													156	154	155					9																	35396917		2203	4300	6503	SO:0001587	stop_gained	10497			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.3268C>T	9.37:g.35396917C>T	ENSP00000367756:p.Arg1090*		Q5VYM8	Nonsense_Mutation	SNP	ENST00000378495.3	37	CCDS6579.1	.	.	.	.	.	.	.	.	.	.	C	44	10.552975	0.99426	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496;ENST00000535471	.	.	.	5.7	4.73	0.59995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.6976	13.3613	0.60657	0.2371:0.7629:0.0:0.0	.	.	.	.	X	1102;1090;1090;677	.	ENSP00000367756:R1090X	R	+	1	2	UNC13B	35386917	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.446000	0.35090	2.682000	0.91365	0.563000	0.77884	CGA		0.552	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377		T	35396917	C	T	35396917	4	4	734	1	0	0	0	0	0	1	0	0	16990	528	19	1	3374	1	UNC13B	9	35396917	Nonsense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	301590	35396917	105816514	468	41887											
C9orf100	84904	broad.mit.edu;hgsc.bcm.edu	37	9	35664388	35664389	+	Frame_Shift_Del	DEL	CT	CT	-	rs139646420	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:35664388_35664389delCT	ENST00000378387.3	-	3	451_452	c.334_335delAG	c.(334-336)aggfs	p.R112fs	ARHGEF39_ENST00000343259.3_Frame_Shift_Del_p.R112fs|ARHGEF39_ENST00000378395.2_Frame_Shift_Del_p.R76fs|ARHGEF39_ENST00000490970.1_5'UTR	NM_032818.2	NP_116207.2	Q8N4T4	ARG39_HUMAN	Rho guanine nucleotide exchange factor (GEF) 39	112	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)										GGTCTGGGACCTCTCTGAGTTG	0.545																																																0																																										SO:0001589	frameshift_variant	84904			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.334_335delAG	9.37:g.35664392_35664393delCT	ENSP00000367638:p.Arg112fs		Q49AG0|Q6TPQ2|Q96ST6	Frame_Shift_Del	DEL	ENST00000378387.3	37	CCDS6584.2																																																																																				0.545	ARHGEF39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052330.1	NM_032818		-	35664389	CT	-	35664388	7	5	734	1	0	1	0	1	0	0	0	0	2446	681	24	0	700	0	C9orf100	9	35664388	Frame_Shift_Del	DEL	CT	TCGA-KN-8428-01A-11D-2310-10	267471	35664388	105549043	469	41888	389	2									
C9orf100	84904	bcgsc.ca	37	9	35664389	35664390	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:35664389_35664390delCT	ENST00000378387.3	-	3	450_451	c.333_334delAG	c.(331-336)gaagggfs	p.G112fs	ARHGEF39_ENST00000343259.3_Frame_Shift_Del_p.G112fs|ARHGEF39_ENST00000378395.2_Frame_Shift_Del_p.G76fs|ARHGEF39_ENST00000490970.1_5'UTR	NM_032818.2	NP_116207.2	Q8N4T4	ARG39_HUMAN	Rho guanine nucleotide exchange factor (GEF) 39	112	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)										GTCTGGGACCTCTCTGAGTTGG	0.55																																																0																																										SO:0001589	frameshift_variant	84904			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.333_334delAG	9.37:g.35664389_35664390delCT	ENSP00000367638:p.Gly112fs		Q49AG0|Q6TPQ2|Q96ST6	Frame_Shift_Del	DEL	ENST00000378387.3	37	CCDS6584.2																																																																																				0.55	ARHGEF39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052330.1	NM_032818		-	35664390	CT	-	35664389	7	5	734	1	0	1	0	1	0	0	0	0	2446	1550	54	0	701	0	C9orf100	9	35664389	Frame_Shift_Del	DEL	CT	TCGA-KN-8428-01A-11D-2310-10	1	35664389	105549042	470	41889	389	2									
CREB3	57704	broad.mit.edu	37	9	35736467	35736467	+	IGR	SNP	C	C	T	rs190901541		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:35736467C>T	ENST00000378103.3	-	0	3611				GBA2_ENST00000467252.1_5'Flank|CREB3_ENST00000486056.1_3'UTR|CREB3_ENST00000353704.2_Missense_Mutation_p.P287L	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)			TCAGAAGTGCCGAAAGACAGC	0.587											OREG0019176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0.0	0.0	5008	,	,		19716	0.001		0.0	False		,,,				2504	0.0															0													95	88	91					9																	35736467		2203	4300	6503	SO:0001628	intergenic_variant	10488			AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"bile acid beta-glucosidase", "non-lysosomal glucosylceramidase"	609471	"spastic paraplegia 46 (autosomal recessive)"	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024		9.37:g.35736467C>T		857	D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Missense_Mutation	SNP	ENST00000378103.3	37	CCDS6589.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	7.427	0.637911	0.14386	.	.	ENSG00000107175	ENST00000353704	T	0.64260	-0.09	5.38	2.5	0.30297	.	0.850382	0.10376	N	0.682185	T	0.47691	0.1459	L	0.31926	0.97	0.58432	D	0.999993	B;B	0.24768	0.111;0.054	B;B	0.14578	0.011;0.007	T	0.37079	-0.9721	10	0.41790	T	0.15	.	7.2495	0.26142	0.1394:0.7099:0.0:0.1506	.	311;287	O43889;O43889-2	CREB3_HUMAN;.	L	287	ENSP00000342136:P287L	ENSP00000342136:P287L	P	+	2	0	CREB3	35726467	0.000000	0.05858	0.995000	0.50966	0.182000	0.23217	-0.013000	0.12678	0.759000	0.33084	-0.137000	0.14449	CCG		0.587	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944		T	35736467	C	T	35736467	1	4	734	0	1	0	0	0	0	0	0	0	3857	652	23	1		1	CREB3	9	35736467	IGR	SNP	C	TCGA-KN-8428-01A-11D-2310-10	72078	35736467	105476964	471	41890											
CNTNAP3	79937	broad.mit.edu	37	9	39177437	39177437	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:39177437C>T	ENST00000297668.6	-	6	878	c.805G>A	c.(805-807)Gac>Aac	p.D269N	CNTNAP3_ENST00000377653.2_5'UTR|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.D181N|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.D269N|CNTNAP3_ENST00000323947.7_Missense_Mutation_p.D269N|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.D269N	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	269	Laminin G-like 1. {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)		CAGTGCTGGTCGTCCAGCAGG	0.507																																																0													70	64	66					9																	39177437		2203	4300	6503	SO:0001583	missense	79937			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.805G>A	9.37:g.39177437C>T	ENSP00000297668:p.Asp269Asn		B1AMA0|Q9C0E9	Missense_Mutation	SNP	ENST00000297668.6	37	CCDS6616.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.337218	0.81911	.	.	ENSG00000106714	ENST00000297668;ENST00000377656;ENST00000358144;ENST00000323947;ENST00000377659;ENST00000377653	D;D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03;-2.03	3.12	3.12	0.35913	Concanavalin A-like lectin/glucanase (2);Concanavalin A-like lectin/glucanase, subgroup (2);Laminin G domain (4);Laminin G, subdomain 2 (2);	.	.	.	.	D	0.92919	0.7747	M	0.90425	3.115	0.38141	D	0.938449	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;0.997;0.932;0.999;0.976	D	0.94840	0.8004	9	0.66056	D	0.02	.	13.3498	0.60595	0.0:1.0:0.0:0.0	.	269;269;269;269;269	E2QRH2;Q96NU0;Q9BZ76-2;A6NC89;Q9BZ76	.;CNT3B_HUMAN;.;.;CNTP3_HUMAN	N	269;269;181;269;269;181	ENSP00000297668:D269N;ENSP00000366884:D269N;ENSP00000350863:D181N;ENSP00000320728:D269N;ENSP00000366887:D269N	ENSP00000297668:D269N	D	-	1	0	CNTNAP3	39167437	1.000000	0.71417	0.189000	0.23252	0.940000	0.58332	6.462000	0.73526	1.735000	0.51646	0.558000	0.71614	GAC		0.507	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	NM_033655		T	39177437	C	T	39177437	3	4	734	1	0	0	0	0	1	0	0	0	3650	884	31	1	3137	1	CNTNAP3	9	39177437	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	3440970	39177437	102035994	472	41891											
FXN	2395	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	9	71668178	71668178	+	Splice_Site	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:71668178T>C	ENST00000377270.3	+	3	908		c.e3+2		FXN_ENST00000396364.3_Splice_Site|FXN_ENST00000498653.1_Splice_Site|FXN_ENST00000396366.2_Splice_Site	NM_000144.4	NP_000135.2	Q16595	FRDA_HUMAN	frataxin						adult walking behavior (GO:0007628)|aerobic respiration (GO:0009060)|cellular iron ion homeostasis (GO:0006879)|cellular response to hydrogen peroxide (GO:0070301)|embryo development ending in birth or egg hatching (GO:0009792)|heme biosynthetic process (GO:0006783)|ion transport (GO:0006811)|iron incorporation into metallo-sulfur cluster (GO:0018283)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|oxidative phosphorylation (GO:0006119)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)|proprioception (GO:0019230)|protein autoprocessing (GO:0016540)|regulation of ferrochelatase activity (GO:0010722)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)|iron chaperone activity (GO:0034986)|iron-sulfur cluster binding (GO:0051536)			large_intestine(1)|lung(1)	2						TCCTTTGGGGTACCTCTTGAC	0.413																																																0													174	185	182					9																	71668178		2203	4300	6503	SO:0001630	splice_region_variant	2395			U43752	CCDS6626.1, CCDS43834.1, CCDS55313.1	9q21.11	2014-09-17	2004-08-16	2004-08-19	ENSG00000165060	ENSG00000165060			3951	protein-coding gene	gene with protein product		606829	"Friedreich ataxia"	FRDA		8596916, 8841185	Standard	NM_000144		Approved	FA, FARR, X25, CyaY	uc004aha.2	Q16595	OTTHUMG00000019977	ENST00000377270.3:c.384+2T>C	9.37:g.71668178T>C			A8MXJ6|C9JJ89|O15545|O95656|Q15294|Q5VZ01	Splice_Site	SNP	ENST00000377270.3	37	CCDS6626.1	.	.	.	.	.	.	.	.	.	.	T	16.47	3.131134	0.56828	.	.	ENSG00000165060	ENST00000377270;ENST00000396364;ENST00000396366;ENST00000498653	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5414	0.67997	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	FXN	70857998	1.000000	0.71417	0.993000	0.49108	0.685000	0.39939	5.378000	0.66190	2.076000	0.62316	0.523000	0.50628	.		0.413	FXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052568.2	NM_000144	Intron	C	71668178	T	C	71668178	5	2	734	1	0	0	0	0	0	0	1	0	6116	1652	57	3	396	3	FXN	9	71668178	Splice_Site	SNP	T	TCGA-KN-8428-01A-11D-2310-10	32490741	71668178	69545253	473	41892											
PCSK5	5125	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	9	78641898	78641898	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:78641898G>A	ENST00000545128.1	+	5	1115	c.577G>A	c.(577-579)Gtg>Atg	p.V193M	PCSK5_ENST00000376767.3_Missense_Mutation_p.V193M|PCSK5_ENST00000376752.4_Missense_Mutation_p.V193M	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	193	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						AAGTTGCGACGTGAATGGGAA	0.512																																																0													147	115	126					9																	78641898		2203	4300	6503	SO:0001583	missense	5125				CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.577G>A	9.37:g.78641898G>A	ENSP00000446280:p.Val193Met		F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	ENST00000545128.1	37	CCDS55320.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.757070	0.89843	.	.	ENSG00000099139	ENST00000545128;ENST00000376767;ENST00000396108;ENST00000376752	D;D;D	0.88046	-2.33;-2.33;-2.33	5.28	5.28	0.74379	.	.	.	.	.	D	0.87103	0.6094	L	0.45470	1.425	0.58432	D	0.999999	P;D	0.55800	0.946;0.973	P;P	0.46585	0.466;0.521	D	0.88798	0.3283	9	0.87932	D	0	.	19.2859	0.94069	0.0:0.0:1.0:0.0	.	193;193	Q92824-2;B1AMG5	.;.	M	193	ENSP00000446280:V193M;ENSP00000365958:V193M;ENSP00000365943:V193M	ENSP00000365943:V193M	V	+	1	0	PCSK5	77831718	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.569000	0.82380	2.624000	0.88883	0.655000	0.94253	GTG		0.512	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				A	78641898	G	A	78641898	3	1	734	1	0	0	0	0	1	0	0	0	11605	1145	40	1	595	1	PCSK5	9	78641898	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	6973720	78641898	62571533	474	41893											
PRUNE2	158471	broad.mit.edu	37	9	79322501	79322501	+	Silent	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:79322501T>C	ENST00000376718.3	-	8	4812	c.4689A>G	c.(4687-4689)caA>caG	p.Q1563Q	PRUNE2_ENST00000428286.1_Silent_p.Q1204Q	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1563					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						CAGAACTGGGTTGCTGGCCCC	0.413																																																0													74	65	68					9																	79322501		1568	3582	5150	SO:0001819	synonymous_variant	158471			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.4689A>G	9.37:g.79322501T>C			B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Silent	SNP	ENST00000376718.3	37	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	T	0.009	-1.816420	0.00595	.	.	ENSG00000106772	ENST00000426088	.	.	.	5.8	2.31	0.28768	.	.	.	.	.	T	0.24699	0.0599	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.18429	-1.0337	4	.	.	.	0.7131	3.6481	0.08192	0.1698:0.2838:0.0:0.5464	.	.	.	.	A	885	.	.	T	-	1	0	PRUNE2	78512321	0.003000	0.15002	0.006000	0.13384	0.029000	0.11900	-0.108000	0.10857	1.028000	0.39785	0.533000	0.62120	ACC		0.413	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		C	79322501	T	C	79322501	2	2	734	1	0	0	0	0	0	0	0	1	12646	1722	60	3		3	PRUNE2	9	79322501	Silent	SNP	T	TCGA-KN-8428-01A-11D-2310-10	680603	79322501	61890930	475	41894											
C9orf64	84267	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	9	86571236	86571236	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:86571236G>A	ENST00000376344.3	-	1	396	c.180C>T	c.(178-180)gcC>gcT	p.A60A	C9orf64_ENST00000376340.2_5'UTR|C9orf64_ENST00000314700.1_Intron	NM_032307.3	NP_115683.3	Q5T6V5	CI064_HUMAN	chromosome 9 open reading frame 64	60										central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						CGGCCTCGTCGGCCGCCCTGG	0.647																																																0													63	65	65					9																	86571236		1987	4159	6146	SO:0001819	synonymous_variant	84267			AK090882	CCDS6666.2	9q22.1	2014-06-11			ENSG00000165118	ENSG00000165118			28144	protein-coding gene	gene with protein product		611342				24911101	Standard	NM_032307		Approved	MGC10999	uc004anb.3	Q5T6V5	OTTHUMG00000020111	ENST00000376344.3:c.180C>T	9.37:g.86571236G>A			B2RPI6|Q8N2B1|Q9BT18	Silent	SNP	ENST00000376344.3	37	CCDS6666.2																																																																																				0.647	C9orf64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052865.1	NM_032307		A	86571236	G	A	86571236	2	1	734	1	0	0	0	0	0	0	0	1	2491	1103	39	1		1	C9orf64	9	86571236	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	7248735	86571236	54642195	476	41895											
SLC28A3	64078	broad.mit.edu	37	9	86895780	86895780	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:86895780G>A	ENST00000376238.4	-	15	1714	c.1665C>T	c.(1663-1665)atC>atT	p.I555I	RP11-380F14.2_ENST00000419815.1_RNA|SLC28A3_ENST00000537648.1_Silent_p.I486I	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	555					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)	CGTAAGTGGCGATTATCTCAG	0.428																																					Ovarian(106;425 1539 34835 42413 43572)											0													160	134	143					9																	86895780		2203	4300	6503	SO:0001819	synonymous_variant	64078			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.1665C>T	9.37:g.86895780G>A			A8K9Y4|B1AML0|B2RA51|B4E2S8|F5GYE3	Silent	SNP	ENST00000376238.4	37	CCDS6670.1																																																																																				0.428	SLC28A3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052874.1	NM_022127		A	86895780	G	A	86895780	2	1	734	1	0	0	0	0	0	0	0	1	14539	1048	37	1		1	SLC28A3	9	86895780	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	324544	86895780	54317651	477	41896											
SHC3	53358	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	9	91692802	91692802	+	Missense_Mutation	SNP	C	C	T	rs539726812		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:91692802C>T	ENST00000375835.4	-	3	868	c.562G>A	c.(562-564)Gtc>Atc	p.V188I	SHC3_ENST00000375830.1_5'UTR	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	188	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						GCTTCACAGACGCGGCTGATG	0.473																																																0													123	116	118					9																	91692802		2203	4300	6503	SO:0001583	missense	53358			D84361	CCDS6681.1	9q22.1	2013-02-14	2005-05-24		ENSG00000148082	ENSG00000148082		"SH2 domain containing"	18181	protein-coding gene	gene with protein product		605263	"src homology 2 domain containing transforming protein C3"			8808684	Standard	NM_016848		Approved	N-Shc, NSHC, SHCC	uc004aqf.2	Q92529	OTTHUMG00000020179	ENST00000375835.4:c.562G>A	9.37:g.91692802C>T	ENSP00000364995:p.Val188Ile		Q5T7I7|Q8TAP2|Q9UCX5	Missense_Mutation	SNP	ENST00000375835.4	37	CCDS6681.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.186566	0.57909	.	.	ENSG00000148082	ENST00000375835	T	0.22336	1.96	5.64	4.61	0.57282	Phosphotyrosine interaction (PID/PI) (1);Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.061292	0.64402	N	0.000003	T	0.22166	0.0534	L	0.59436	1.845	0.80722	D	1	B	0.23128	0.08	B	0.26416	0.069	T	0.04178	-1.0971	10	0.54805	T	0.06	-34.1954	8.8237	0.35041	0.0:0.7953:0.0:0.2047	.	188	Q92529	SHC3_HUMAN	I	188	ENSP00000364995:V188I	ENSP00000364995:V188I	V	-	1	0	SHC3	90882622	1.000000	0.71417	0.833000	0.33012	0.900000	0.52787	2.887000	0.48586	1.364000	0.46038	0.650000	0.86243	GTC		0.473	SHC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052986.1	NM_016848		T	91692802	C	T	91692802	3	4	734	1	0	0	0	0	1	0	0	0	14278	536	19	1	1262	1	SHC3	9	91692802	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	4797022	91692802	49520629	478	41897											
FAM120A	23196	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	9	96326776	96326776	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:96326776G>A	ENST00000277165.6	+	18	3505	c.3311G>A	c.(3310-3312)cGc>cAc	p.R1104H	AL353629.1_ENST00000582353.1_RNA|FAM120A_ENST00000333936.5_Missense_Mutation_p.R1132H|FAM120A_ENST00000340893.4_Missense_Mutation_p.R1058H	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	1104	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						AGCGCTTGCCGCAGAGAAGCT	0.433																																																0													62	67	65					9																	96326776		2203	4299	6502	SO:0001583	missense	23196			AF214737	CCDS6706.1, CCDS75859.1	9q22.31	2013-03-08	2006-07-04	2006-07-04	ENSG00000048828	ENSG00000048828			13247	protein-coding gene	gene with protein product	"DNA polymerase-transactivated protein 1", "oxidative stess-associated Src activator"	612265	"chromosome 9 open reading frame 10"	C9orf10		14585507	Standard	NM_001286722		Approved	KIAA0183, DNAPTP1, OSSA	uc004atw.3	Q9NZB2	OTTHUMG00000020252	ENST00000277165.6:c.3311G>A	9.37:g.96326776G>A	ENSP00000277165:p.Arg1104His		A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Missense_Mutation	SNP	ENST00000277165.6	37	CCDS6706.1	.	.	.	.	.	.	.	.	.	.	G	0.412	-0.912889	0.02415	.	.	ENSG00000048828	ENST00000277165;ENST00000333936;ENST00000340893;ENST00000427765	T;T;T;T	0.42131	1.57;1.57;1.57;0.98	5.54	1.27	0.21489	.	0.455677	0.22483	N	0.059479	T	0.15696	0.0378	N	0.02916	-0.46	0.30686	N	0.751839	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.14811	-1.0459	10	0.23302	T	0.38	-3.7237	6.753	0.23497	0.647:0.0:0.353:0.0	.	1058;1132;1104	Q9NZB2-4;Q9NZB2-6;Q9NZB2	.;.;F120A_HUMAN	H	1104;1132;1058;480	ENSP00000277165:R1104H;ENSP00000334918:R1132H;ENSP00000344698:R1058H;ENSP00000412440:R480H	ENSP00000277165:R1104H	R	+	2	0	FAM120A	95366597	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	3.318000	0.51975	0.312000	0.23038	-0.150000	0.13652	CGC		0.433	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053160.2	NM_014612		A	96326776	G	A	96326776	3	1	734	1	0	0	0	0	1	0	0	0	5417	1087	38	1	3381	1	FAM120A	9	96326776	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	4633974	96326776	44886655	479	41898											
TEX10	54881	broad.mit.edu;ucsc.edu;mdanderson.org	37	9	103064527	103064527	+	Silent	SNP	G	G	A	rs373037476		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:103064527G>A	ENST00000374902.4	-	15	2912	c.2736C>T	c.(2734-2736)aaC>aaT	p.N912N	TEX10_ENST00000477648.1_5'UTR|TEX10_ENST00000535814.1_Silent_p.N896N	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	912						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|MLL1 complex (GO:0071339)				NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TGATATACACGTTGAAGCAGT	0.448																																																0								G	,	1,4405	2.1+/-5.4	0,1,2202	150	128	136		2688,2736	-5.6	0	9		136	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	TEX10	NM_001161584.1,NM_017746.3	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	896/914,912/930	103064527	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54881			AB060968	CCDS6748.1, CCDS55330.1	9q31.1	2012-05-02	2007-03-13		ENSG00000136891	ENSG00000136891			25988	protein-coding gene	gene with protein product			"testis expressed gene 10", "testis expressed sequence 10"			12477932	Standard	NM_017746		Approved	FLJ20287, bA208F1.2, Ipi1	uc004bas.3	Q9NXF1	OTTHUMG00000020366	ENST00000374902.4:c.2736C>T	9.37:g.103064527G>A			B4DYV2|Q5T722|Q5T723|Q8NCN8|Q8TDY0	Silent	SNP	ENST00000374902.4	37	CCDS6748.1																																																																																				0.448	TEX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053416.1	NM_017746		A	103064527	G	A	103064527	2	1	734	1	0	0	0	0	0	0	0	1	15777	1136	40	1		1	TEX10	9	103064527	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	6737751	103064527	38148904	480	41899											
MURC	347273	bcgsc.ca	37	9	103348063	103348063	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:103348063C>T	ENST00000307584.5	+	2	490	c.425C>T	c.(424-426)cCg>cTg	p.P142L		NM_001018116.1	NP_001018126.1	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	142					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Z disc (GO:0030018)				endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16		Acute lymphoblastic leukemia(62;0.0461)				TTTCGGTGTCCGACATCCCTG	0.423																																																0													54	51	52					9																	103348063		2203	4300	6503	SO:0001583	missense	347273			BC090888	CCDS35083.1	9q31.1	2014-09-17			ENSG00000170681	ENSG00000170681			33742	protein-coding gene	gene with protein product	"muscle-restricted coiled-coil protein"					18508909, 18332105	Standard	NM_001018116		Approved	cavin-4, CAVIN4	uc004bba.3	Q5BKX8	OTTHUMG00000020368	ENST00000307584.5:c.425C>T	9.37:g.103348063C>T	ENSP00000418668:p.Pro142Leu		B1PRL3|B4DT88	Missense_Mutation	SNP	ENST00000307584.5	37	CCDS35083.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.401722	0.62288	.	.	ENSG00000170681	ENST00000307584	T	0.65732	-0.17	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.79155	0.4398	M	0.77486	2.375	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.82155	-0.0597	10	0.87932	D	0	-6.8673	16.0689	0.80909	0.0:1.0:0.0:0.0	.	142	Q5BKX8	MURC_HUMAN	L	142	ENSP00000418668:P142L	ENSP00000418668:P142L	P	+	2	0	MURC	102387884	0.996000	0.38824	0.588000	0.28705	0.704000	0.40688	3.603000	0.54074	2.463000	0.83235	0.561000	0.74099	CCG		0.423	MURC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053419.2	NM_001018116		T	103348063	C	T	103348063	3	4	734	1	0	0	0	0	1	0	0	0	9989	652	23	1	431	1	MURC	9	103348063	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	283536	103348063	37865368	481	41900											
MRPL50	54534	broad.mit.edu;mdanderson.org;bcgsc.ca	37	9	104153053	104153053	+	Nonsense_Mutation	SNP	G	G	A	rs150313404		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:104153053G>A	ENST00000374865.4	-	2	193	c.172C>T	c.(172-174)Cga>Tga	p.R58*	MRPL50_ENST00000539624.1_Nonsense_Mutation_p.R58*	NM_019051.2	NP_061924.1	Q8N5N7	RM50_HUMAN	mitochondrial ribosomal protein L50	58						mitochondrion (GO:0005739)|ribosome (GO:0005840)				large_intestine(1)|lung(2)|prostate(2)	5		Acute lymphoblastic leukemia(62;0.0559)				GTGTATGCTCGGCTTCGTAAA	0.418																																																0								G	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	141	141	141		172	3.8	0.7	9	dbSNP_134	141	0,8600		0,0,4300	no	stop-gained	MRPL50	NM_019051.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		58/159	104153053	1,13005	2203	4300	6503	SO:0001587	stop_gained	54534			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.172C>T	9.37:g.104153053G>A	ENSP00000363999:p.Arg58*		B7Z358|Q5T7E0|Q9NX15	Nonsense_Mutation	SNP	ENST00000374865.4	37	CCDS6753.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.114943	0.77210	2.27E-4	0.0	ENSG00000136897	ENST00000374865;ENST00000539624	.	.	.	5.62	3.75	0.43078	.	0.350015	0.23964	N	0.042831	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.881	6.6634	0.23027	0.083:0.0:0.6018:0.3152	.	.	.	.	X	58	.	ENSP00000363999:R58X	R	-	1	2	MRPL50	103192874	0.926000	0.31397	0.712000	0.30502	0.791000	0.44710	1.265000	0.33027	0.702000	0.31825	0.557000	0.71058	CGA		0.418	MRPL50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053450.1	NM_019051		A	104153053	G	A	104153053	4	1	734	1	0	0	0	0	0	1	0	0	9816	1124	39	1	308	1	MRPL50	9	104153053	Nonsense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	804990	104153053	37060378	482	41901											
RGS3	5998	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	9	116353631	116353631	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:116353631G>A	ENST00000374140.2	+	22	3243	c.3034G>A	c.(3034-3036)Gtt>Att	p.V1012I	RGS3_ENST00000462143.1_Missense_Mutation_p.V333I|RP11-168K11.2_ENST00000428429.1_RNA|RGS3_ENST00000343817.5_Missense_Mutation_p.V731I|RGS3_ENST00000394646.3_Missense_Mutation_p.V405I|RGS3_ENST00000462403.1_5'Flank|RGS3_ENST00000350696.5_Missense_Mutation_p.V1012I|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000374134.3_Missense_Mutation_p.V333I	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	1012					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						GGCTGACACCGTTGGGGATGA	0.572																																																0													99	89	92					9																	116353631		2203	4300	6503	SO:0001583	missense	5998			AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"Regulators of G-protein signaling"	9999	protein-coding gene	gene with protein product		602189	"regulator of G-protein signalling 3"			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.3034G>A	9.37:g.116353631G>A	ENSP00000363255:p.Val1012Ile		A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	ENST00000374140.2	37	CCDS43869.1	.	.	.	.	.	.	.	.	.	.	G	6.794	0.515463	0.12944	.	.	ENSG00000138835	ENST00000374140;ENST00000350696;ENST00000343817;ENST00000394646;ENST00000474719;ENST00000462143;ENST00000374134;ENST00000467805	T;T;T;T;T;T;T	0.76709	0.95;0.95;0.45;2.55;0.44;0.44;-1.04	4.53	2.27	0.28462	.	0.435553	0.19907	N	0.103365	T	0.54631	0.1870	N	0.22421	0.69	0.09310	N	1	P;B;B;P;B;B;B	0.35700	0.516;0.002;0.335;0.516;0.335;0.226;0.342	B;B;B;B;B;B;B	0.22386	0.039;0.0;0.038;0.039;0.014;0.028;0.028	T	0.45716	-0.9242	10	0.38643	T	0.18	.	5.2355	0.15445	0.1607:0.2259:0.6134:0.0	.	351;405;908;333;731;902;1012	B4DWF9;B3KUB2;P49796-6;Q6ZV17;P49796-4;B3KWG8;P49796	.;.;.;.;.;.;RGS3_HUMAN	I	1012;1012;731;405;180;333;333;178	ENSP00000363255:V1012I;ENSP00000259406:V1012I;ENSP00000340284:V731I;ENSP00000378141:V405I;ENSP00000420356:V333I;ENSP00000363249:V333I;ENSP00000417994:V178I	ENSP00000340284:V731I	V	+	1	0	RGS3	115393452	0.601000	0.26907	0.009000	0.14445	0.046000	0.14306	1.485000	0.35519	0.865000	0.35603	0.555000	0.69702	GTT		0.572	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790		A	116353631	G	A	116353631	3	1	734	1	0	0	0	0	1	0	0	0	13312	1145	40	1	3369	1	RGS3	9	116353631	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	12200578	116353631	24859800	483	41902											
ZNF618	114991	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	9	116812166	116812166	+	Missense_Mutation	SNP	G	G	A	rs372290471		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:116812166G>A	ENST00000374126.5	+	15	2683	c.2584G>A	c.(2584-2586)Gca>Aca	p.A862T	ZNF618_ENST00000288466.7_Missense_Mutation_p.A769T|ZNF618_ENST00000470105.1_3'UTR			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	862					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						CGAGAACCCCGCAGCTCAGGA	0.597																																																0								G	THR/ALA	1,3961		0,1,1980	74	81	79		2305	-8.4	0	9		79	0,8282		0,0,4141	no	missense	ZNF618	NM_133374.2	58	0,1,6121	AA,AG,GG		0.0,0.0252,0.0082	benign	769/862	116812166	1,12243	1981	4141	6122	SO:0001583	missense	114991			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.2584G>A	9.37:g.116812166G>A	ENSP00000363241:p.Ala862Thr		B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Missense_Mutation	SNP	ENST00000374126.5	37		.	.	.	.	.	.	.	.	.	.	G	4.045	0.006041	0.07866	2.52E-4	0.0	ENSG00000157657	ENST00000374126;ENST00000288466	T;T	0.22743	1.94;1.94	5.63	-8.45	0.00946	Ribonuclease H-like (1);	0.899482	0.09826	N	0.750823	T	0.06462	0.0166	.	.	.	0.09310	N	0.99999	B;B;B	0.09022	0.001;0.002;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.36335	-0.9752	9	0.11485	T	0.65	0.0314	4.7216	0.12920	0.4829:0.1097:0.3256:0.0818	.	829;862;769	B9EG82;Q5T7W0;Q5T7W0-2	.;ZN618_HUMAN;.	T	862;769	ENSP00000363241:A862T;ENSP00000288466:A769T	ENSP00000288466:A769T	A	+	1	0	ZNF618	115851987	0.000000	0.05858	0.001000	0.08648	0.390000	0.30446	-1.955000	0.01523	-1.088000	0.03077	-0.997000	0.02515	GCA		0.597	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000053749.1	XM_054983		A	116812166	G	A	116812166	3	1	734	1	0	0	0	0	1	0	0	0	18047	1087	38	1	2359	1	ZNF618	9	116812166	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	458535	116812166	24401265	484	41903											
TNC	3371	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	9	117797539	117797539	+	Missense_Mutation	SNP	G	G	A	rs148674204	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:117797539G>A	ENST00000350763.4	-	22	6142	c.5731C>T	c.(5731-5733)Cgg>Tgg	p.R1911W	TNC_ENST00000535648.1_Missense_Mutation_p.R1456W|TNC_ENST00000537320.1_Missense_Mutation_p.R1274W|TNC_ENST00000341037.4_Missense_Mutation_p.R1729W|TNC_ENST00000542877.1_Missense_Mutation_p.R1548W|TNC_ENST00000345230.3_Missense_Mutation_p.R1274W|TNC_ENST00000340094.3_Missense_Mutation_p.R1547W|TNC_ENST00000346706.3_Missense_Mutation_p.R1365W|TNC_ENST00000423613.2_Missense_Mutation_p.R1638W	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1911	Fibronectin type-III 15. {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						ACTGATGCCCGGGGGGGTCGC	0.478																																																0								G	TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	81	83	82		5731	4	0.7	9	dbSNP_134	82	4,8596	3.7+/-12.6	0,4,4296	yes	missense	TNC	NM_002160.3	101	0,6,6497	AA,AG,GG		0.0465,0.0454,0.0461	probably-damaging	1911/2202	117797539	6,13000	2203	4300	6503	SO:0001583	missense	3371				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.5731C>T	9.37:g.117797539G>A	ENSP00000265131:p.Arg1911Trp		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	CCDS6811.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.03|17.03	3.283309|3.283309	0.59867|0.59867	4.54E-4|4.54E-4	4.65E-4|4.65E-4	ENSG00000041982|ENSG00000041982	ENST00000544972|ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T|T;T;T;T;T;T;T;T;T	0.74315|0.57907	-0.83|0.37;0.37;0.37;0.37;0.37;0.37;0.37;0.37;0.37	5.97|5.97	4.02|4.02	0.46733|0.46733	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	.|0.239042	.|0.41823	.|D	.|0.000804	T|T	0.74427|0.74427	0.3715|0.3715	M|M	0.84948|0.84948	2.725|2.725	0.09310|0.09310	N|N	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.85130	.|0.995;0.997	T|T	0.69643|0.69643	-0.5090|-0.5090	7|10	0.72032|0.72032	D|D	0.01|0.01	.|.	14.1271|14.1271	0.65228|0.65228	0.0:0.0:0.5477:0.4523|0.0:0.0:0.5477:0.4523	.|.	.|1638;1911	.|E9PC84;P24821	.|.;TENA_HUMAN	L|W	473|1547;1456;1365;1274;1911;983;1729;1638;1274;1548	ENSP00000445380:P473L|ENSP00000344400:R1547W;ENSP00000438152:R1456W;ENSP00000344555:R1365W;ENSP00000345861:R1274W;ENSP00000265131:R1911W;ENSP00000339553:R1729W;ENSP00000411406:R1638W;ENSP00000443478:R1274W;ENSP00000442242:R1548W	ENSP00000445380:P473L|ENSP00000344400:R1547W	P|R	-|-	2|1	0|2	TNC|TNC	116837360|116837360	0.749000|0.749000	0.28305|0.28305	0.706000|0.706000	0.30403|0.30403	0.778000|0.778000	0.44026|0.44026	2.922000|2.922000	0.48860|0.48860	0.693000|0.693000	0.31634|0.31634	0.655000|0.655000	0.94253|0.94253	CCG|CGG		0.478	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		A	117797539	G	A	117797539	3	1	734	1	0	0	0	0	1	0	0	0	16275	1115	39	1	902	1	TNC	9	117797539	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	985373	117797539	23415892	485	41904											
DBC1	1620	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	9	122001025	122001025	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:122001025C>T	ENST00000265922.3	-	5	1054	c.593G>A	c.(592-594)cGc>cAc	p.R198H	BRINP1_ENST00000373964.2_Missense_Mutation_p.R198H	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	198	MACPF.				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)											AGGCCCAGTGCGTGTCTCTGT	0.507																																																0													106	78	88					9																	122001025		2203	4300	6503	SO:0001583	missense	1620			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.593G>A	9.37:g.122001025C>T	ENSP00000265922:p.Arg198His		Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	ENST00000265922.3	37	CCDS6822.1	.	.	.	.	.	.	.	.	.	.	C	35	5.458407	0.96240	.	.	ENSG00000078725	ENST00000373969;ENST00000265922;ENST00000373964	T;T	0.55930	2.14;0.49	5.91	5.91	0.95273	Membrane attack complex component/perforin (MACPF) domain (1);	0.000000	0.85682	D	0.000000	T	0.71921	0.3397	M	0.64404	1.975	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.81914	0.991;0.995	T	0.72629	-0.4235	10	0.87932	D	0	-21.6133	19.2777	0.94039	0.0:1.0:0.0:0.0	.	198;198	O60477-2;O60477	.;DBC1_HUMAN	H	198	ENSP00000265922:R198H;ENSP00000363075:R198H	ENSP00000265922:R198H	R	-	2	0	DBC1	121040846	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.625000	0.83145	2.794000	0.96219	0.655000	0.94253	CGC		0.507	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		T	122001025	C	T	122001025	3	4	734	1	0	0	0	0	1	0	0	0	4249	768	27	1	1708	1	DBC1	9	122001025	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	4203486	122001025	19212406	486	41905											
NEK6	10783	broad.mit.edu;ucsc.edu	37	9	127064218	127064218	+	5'UTR	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:127064218G>A	ENST00000320246.5	+	0	120				NEK6_ENST00000539416.1_Missense_Mutation_p.R17H|NEK6_ENST00000373600.3_Missense_Mutation_p.R26H|NEK6_ENST00000373603.1_5'UTR|NEK6_ENST00000546191.1_5'UTR|NEK6_ENST00000540326.1_Missense_Mutation_p.R10H|NEK6_ENST00000394199.2_Missense_Mutation_p.R26H|NEK6_ENST00000545174.1_5'UTR	NM_014397.5	NP_055212.2	Q9HC98	NEK6_HUMAN	NIMA-related kinase 6						apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cellular senescence (GO:2000772)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|signal transduction (GO:0007165)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinesin binding (GO:0019894)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15						GTTGCAGTTCGTGCCCTCGTG	0.582																																					NSCLC(122;934 1785 18647 44295 45571)											0													37	32	34					9																	127064218		2195	4290	6485	SO:0001623	5_prime_UTR_variant	10783			AF087909	CCDS6854.1, CCDS48015.1, CCDS55338.1, CCDS55339.1	9q33.3-q34.11	2012-11-15	2012-11-15		ENSG00000119408	ENSG00000119408			7749	protein-coding gene	gene with protein product	"putative serine-threonine protein kinase"	604884	"NIMA (never in mitosis gene a)-related kinase 6"			10702691	Standard	NM_001145001		Approved	SID6-1512	uc004boh.3	Q9HC98	OTTHUMG00000020650	ENST00000320246.5:c.-26G>A	9.37:g.127064218G>A			B7Z2D9|Q5TBG3|Q5TBG9|Q6FG86|Q6IAR3|Q96E83|Q9ULX2	Missense_Mutation	SNP	ENST00000320246.5	37	CCDS6854.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.184141	0.38609	.	.	ENSG00000119408	ENST00000540326;ENST00000373600;ENST00000423785;ENST00000394199;ENST00000539416	T;T;T;T;T	0.71934	-0.61;-0.57;-0.42;-0.57;-0.57	4.85	2.97	0.34412	.	1.576480	0.04628	U	0.403160	T	0.53351	0.1791	N	0.14661	0.345	0.80722	D	1	P;B	0.36733	0.567;0.265	B;B	0.32149	0.141;0.053	T	0.38394	-0.9663	10	0.51188	T	0.08	.	7.0487	0.25061	0.0961:0.1754:0.7285:0.0	.	26;10	Q9HC98-2;Q9HC98-3	.;.	H	10;26;26;26;17	ENSP00000441469:R10H;ENSP00000362702:R26H;ENSP00000399847:R26H;ENSP00000377749:R26H;ENSP00000439651:R17H	ENSP00000362702:R26H	R	+	2	0	NEK6	126104039	0.346000	0.24844	0.908000	0.35775	0.360000	0.29518	0.900000	0.28431	0.703000	0.31848	0.563000	0.77884	CGT		0.582	NEK6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054016.1	NM_014397		A	127064218	G	A	127064218	1	1	734	0	1	0	0	0	0	0	0	0	10330	1145	40	1		1	NEK6	9	127064218	5'UTR	SNP	G	TCGA-KN-8428-01A-11D-2310-10	5063193	127064218	14149213	487	41906											
RABEPK	10244	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	9	127975736	127975736	+	Missense_Mutation	SNP	G	G	A	rs147509125		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:127975736G>A	ENST00000373538.3	+	4	609	c.299G>A	c.(298-300)cGt>cAt	p.R100H	RABEPK_ENST00000259460.8_Intron|RABEPK_ENST00000394125.4_Missense_Mutation_p.R100H|RABEPK_ENST00000373544.1_Missense_Mutation_p.R100H|RABEPK_ENST00000394124.4_Missense_Mutation_p.R100H	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	100					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						ACACCTGACCGTATCTGGGTA	0.448																																																0								G	HIS/ARG,,HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	131	119	123		299,,299	1.5	0.2	9	dbSNP_134	123	0,8600		0,0,4300	no	missense,intron,missense	RABEPK	NM_001174152.1,NM_001174153.1,NM_005833.3	29,,29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign,,benign	100/373,,100/373	127975736	2,13004	2203	4300	6503	SO:0001583	missense	10244			BC000503	CCDS6862.1, CCDS55341.1	9q33.1-q33.3	2010-04-19			ENSG00000136933	ENSG00000136933			16896	protein-coding gene	gene with protein product		605962				9230071	Standard	NM_005833		Approved	RAB9P40, bA65N13.1	uc004bpi.3	Q7Z6M1	OTTHUMG00000020674	ENST00000373538.3:c.299G>A	9.37:g.127975736G>A	ENSP00000362639:p.Arg100His		A8K403|O00568|Q69YR2|Q6FHA4|Q6IBG7|Q6P092|Q86Y76|Q9BWB1	Missense_Mutation	SNP	ENST00000373538.3	37	CCDS6862.1	.	.	.	.	.	.	.	.	.	.	G	4.987	0.183381	0.09495	4.54E-4	0.0	ENSG00000136933	ENST00000394125;ENST00000373544;ENST00000394124;ENST00000373538;ENST00000416065	T;T;T;T;T	0.68181	0.84;-0.31;-0.31;0.84;0.84	5.47	1.49	0.22878	Galactose oxidase, beta-propeller (1);	0.429767	0.29403	N	0.012242	T	0.54532	0.1864	L	0.52206	1.635	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.0	T	0.43798	-0.9369	10	0.40728	T	0.16	-0.2788	6.7011	0.23225	0.2233:0.254:0.5227:0.0	.	100;100	Q7Z6M1;Q5T1S4	RABEK_HUMAN;.	H	100;100;100;100;183	ENSP00000377683:R100H;ENSP00000362645:R100H;ENSP00000377682:R100H;ENSP00000362639:R100H;ENSP00000402234:R183H	ENSP00000362639:R100H	R	+	2	0	RABEPK	127015557	1.000000	0.71417	0.195000	0.23364	0.047000	0.14425	1.514000	0.35834	-0.185000	0.10550	-2.511000	0.00188	CGT		0.448	RABEPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054064.1	NM_005833		A	127975736	G	A	127975736	3	1	734	1	0	0	0	0	1	0	0	0	12969	1145	40	1	309	1	RABEPK	9	127975736	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	911518	127975736	13237695	488	41907											
ZBTB34	403341	broad.mit.edu;mdanderson.org	37	9	129641862	129641862	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:129641862C>T	ENST00000373452.2	+	1	236	c.172C>T	c.(172-174)Cgg>Tgg	p.R58W	ZBTB34_ENST00000319119.4_Missense_Mutation_p.R62W			Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	58	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)			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						CCCATATTTCCGGGACCATTC	0.468																																																0													118	127	124					9																	129641862		2033	4177	6210	SO:0001583	missense	403341			DQ227306	CCDS48023.1	9q33.3	2013-01-08			ENSG00000177125	ENSG00000177125		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	31446	protein-coding gene	gene with protein product		611692				16718364	Standard	NM_001099270		Approved	KIAA1993, MGC24652, ZNF918	uc004bqm.4	Q8NCN2	OTTHUMG00000020694	ENST00000373452.2:c.172C>T	9.37:g.129641862C>T	ENSP00000362551:p.Arg58Trp		Q38IA7|Q5VYE9	Missense_Mutation	SNP	ENST00000373452.2	37	CCDS48023.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.757294	0.89843	.	.	ENSG00000177125	ENST00000319119;ENST00000373452	T;T	0.70164	-0.46;-0.46	5.53	5.53	0.82687	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.83681	0.5307	M	0.81802	2.56	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84932	0.0860	10	0.72032	D	0.01	.	19.8241	0.96610	0.0:1.0:0.0:0.0	.	58	Q8NCN2	ZBT34_HUMAN	W	62;58	ENSP00000317534:R62W;ENSP00000362551:R58W	ENSP00000317534:R62W	R	+	1	2	ZBTB34	128681683	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.440000	0.80464	2.758000	0.94735	0.655000	0.94253	CGG		0.468	ZBTB34-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001099270		T	129641862	C	T	129641862	3	4	734	1	0	0	0	0	1	0	0	0	17542	643	23	1	174	1	ZBTB34	9	129641862	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1666126	129641862	11571569	489	41908											
ZBTB34	403341	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	9	129642636	129642636	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:129642636C>T	ENST00000373452.2	+	1	1010	c.946C>T	c.(946-948)Cga>Tga	p.R316*	ZBTB34_ENST00000319119.4_Nonsense_Mutation_p.R320*			Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	316					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						GAGCTGTTTCCGAGGAGGGCG	0.547																																																0													35	37	37					9																	129642636		1968	4143	6111	SO:0001587	stop_gained	403341			DQ227306	CCDS48023.1	9q33.3	2013-01-08			ENSG00000177125	ENSG00000177125		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	31446	protein-coding gene	gene with protein product		611692				16718364	Standard	NM_001099270		Approved	KIAA1993, MGC24652, ZNF918	uc004bqm.4	Q8NCN2	OTTHUMG00000020694	ENST00000373452.2:c.946C>T	9.37:g.129642636C>T	ENSP00000362551:p.Arg316*		Q38IA7|Q5VYE9	Nonsense_Mutation	SNP	ENST00000373452.2	37	CCDS48023.1	.	.	.	.	.	.	.	.	.	.	C	36	5.867591	0.97043	.	.	ENSG00000177125	ENST00000319119;ENST00000373452	.	.	.	5.78	4.83	0.62350	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	14.1263	0.65222	0.2213:0.7787:0.0:0.0	.	.	.	.	X	320;316	.	ENSP00000317534:R320X	R	+	1	2	ZBTB34	128682457	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.814000	0.48010	2.731000	0.93534	0.655000	0.94253	CGA		0.547	ZBTB34-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001099270		T	129642636	C	T	129642636	4	4	734	1	0	0	0	0	0	1	0	0	17542	644	23	1	948	1	ZBTB34	9	129642636	Nonsense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	774	129642636	11570795	490	41909											
ANGPTL2	23452	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	9	129870870	129870870	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:129870870C>T	ENST00000373425.3	-	2	758	c.141G>A	c.(139-141)gcG>gcA	p.A47A	RALGPS1_ENST00000259351.5_Intron|ANGPTL2_ENST00000373417.1_Intron|RALGPS1_ENST00000394022.3_Intron|ANGPTL2_ENST00000491991.1_5'Flank|RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000373436.1_Intron|RALGPS1_ENST00000424082.2_Intron	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	47					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						GGGACTCGCCCGCCCGCTTGT	0.602																																																0													76	61	66					9																	129870870		2203	4300	6503	SO:0001819	synonymous_variant	23452			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.141G>A	9.37:g.129870870C>T			Q5JT58|Q8NCH7	Silent	SNP	ENST00000373425.3	37	CCDS6868.1																																																																																				0.602	ANGPTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054129.1	NM_012098		T	129870870	C	T	129870870	2	4	734	1	0	0	0	0	0	0	0	1	614	639	23	1		1	ANGPTL2	9	129870870	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	228234	129870870	11342561	491	41910											
SLC2A8	29988	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	9	130167788	130167788	+	Missense_Mutation	SNP	G	G	A	rs201045999	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:130167788G>A	ENST00000373371.3	+	9	1329	c.1240G>A	c.(1240-1242)Gtc>Atc	p.V414I	SLC2A8_ENST00000373360.3_Intron|SLC2A8_ENST00000373352.1_Missense_Mutation_p.V151I	NM_001271712.1|NM_014580.3	NP_001258641.1|NP_055395.2	Q9NY64	GTR8_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 8	414					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|male meiosis I (GO:0007141)|response to hypoxia (GO:0001666)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	glucose binding (GO:0005536)|glucose transmembrane transporter activity (GO:0005355)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	11						AGGCATCTGCGTCCTCACCAA	0.632													G|||	18	0.00359425	0.0	0.0	5008	,	,		22112	0.0		0.0	False		,,,				2504	0.0184															0													123	91	101					9																	130167788		2202	4300	6502	SO:0001583	missense	29988			AJ245937	CCDS6870.1, CCDS65138.1, CCDS75903.1	9q33.3	2013-05-22	2008-09-02		ENSG00000136856	ENSG00000136856		"Solute carriers"	13812	protein-coding gene	gene with protein product		605245	"solute carrier family 2 (facilitated glucose transporter) member 8"			10671487, 10821868	Standard	NM_014580		Approved	GLUTX1, GLUT8	uc004bqu.4	Q9NY64	OTTHUMG00000020702	ENST00000373371.3:c.1240G>A	9.37:g.130167788G>A	ENSP00000362469:p.Val414Ile		Q8WUZ9|Q9NSC4	Missense_Mutation	SNP	ENST00000373371.3	37	CCDS6870.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.399352	0.83120	.	.	ENSG00000136856	ENST00000373371;ENST00000451404;ENST00000373352;ENST00000430147	T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0	5.35	5.35	0.76521	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.056140	0.64402	D	0.000001	D	0.84406	0.5465	L	0.58302	1.8	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.84562	0.0650	10	0.54805	T	0.06	.	18.1845	0.89789	0.0:0.0:1.0:0.0	.	414	Q9NY64	GTR8_HUMAN	I	414;251;151;253	ENSP00000362469:V414I;ENSP00000392434:V251I;ENSP00000362450:V151I;ENSP00000391213:V253I	ENSP00000362450:V151I	V	+	1	0	SLC2A8	129207609	1.000000	0.71417	0.974000	0.42286	0.484000	0.33280	9.349000	0.97066	2.674000	0.91012	0.655000	0.94253	GTC		0.632	SLC2A8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054177.1	NM_014580		A	130167788	G	A	130167788	3	1	734	1	0	0	0	0	1	0	0	0	14557	1145	40	1	1274	1	SLC2A8	9	130167788	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	296918	130167788	11045643	492	41911											
FPGS	2356	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	9	130569287	130569287	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:130569287G>A	ENST00000373247.2	+	5	472	c.422G>A	c.(421-423)cGc>cAc	p.R141H	FPGS_ENST00000373245.1_Missense_Mutation_p.R141H|FPGS_ENST00000373225.3_Missense_Mutation_p.R91H|FPGS_ENST00000393706.2_Missense_Mutation_p.R141H|FPGS_ENST00000460181.1_3'UTR	NM_004957.4	NP_004948.4	Q05932	FOLC_HUMAN	folylpolyglutamate synthase	141					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)	GAGCGGATCCGCATCAATGGG	0.652																																																0													90	87	88					9																	130569287		2203	4300	6503	SO:0001583	missense	2356				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.422G>A	9.37:g.130569287G>A	ENSP00000362344:p.Arg141His		B3KPW4|B7Z2Z3|F5H0K6|Q5JU19|Q5JU22|Q6P2P6	Missense_Mutation	SNP	ENST00000373247.2	37	CCDS35148.1	.	.	.	.	.	.	.	.	.	.	g	35	5.448987	0.96205	.	.	ENSG00000136877	ENST00000373247;ENST00000373245;ENST00000393706;ENST00000373228;ENST00000373225;ENST00000431857;ENST00000423577	T;T;T;T;T	0.38077	2.5;1.16;2.47;1.16;2.1	5.45	5.45	0.79879	Mur ligase, central (2);	0.000000	0.85682	D	0.000000	T	0.70937	0.3281	M	0.93854	3.465	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.79313	-0.1855	10	0.87932	D	0	-0.0707	17.882	0.88843	0.0:0.0:1.0:0.0	.	141;141	Q05932-4;Q05932	.;FOLC_HUMAN	H	141;141;141;141;91;91;91	ENSP00000362344:R141H;ENSP00000362342:R141H;ENSP00000377309:R141H;ENSP00000362325:R141H;ENSP00000362322:R91H	ENSP00000362322:R91H	R	+	2	0	FPGS	129609108	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.637000	0.98443	2.582000	0.87167	0.450000	0.29827	CGC		0.652	FPGS-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054251.1			A	130569287	G	A	130569287	3	1	734	1	0	0	0	0	1	0	0	0	6038	1087	38	1	440	1	FPGS	9	130569287	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	401499	130569287	10644144	493	41912											
PIP5KL1	138429	hgsc.bcm.edu;ucsc.edu	37	9	130684387	130684387	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:130684387C>T	ENST00000388747.4	-	10	968	c.924G>A	c.(922-924)gtG>gtA	p.V308V	PIP5KL1_ENST00000300432.3_Silent_p.V105V	NM_001135219.1	NP_001128691.1	Q5T9C9	PI5L1_HUMAN	phosphatidylinositol-4-phosphate 5-kinase-like 1	308	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.					cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)	8						GTGCCCCTTGCACAGACCTGG	0.701																																																0													10	12	12					9																	130684387		2129	4201	6330	SO:0001819	synonymous_variant	138429			BC042184	CCDS6885.1, CCDS48030.1	9q34.13	2008-02-05			ENSG00000167103	ENSG00000167103			28711	protein-coding gene	gene with protein product		612865				12477932	Standard	NM_001135219		Approved	bA203J24.5, MGC46424	uc011mao.2	Q5T9C9	OTTHUMG00000020719	ENST00000388747.4:c.924G>A	9.37:g.130684387C>T			Q8IVS3	Silent	SNP	ENST00000388747.4	37	CCDS48030.1																																																																																				0.701	PIP5KL1-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054289.2	NM_173492		T	130684387	C	T	130684387	2	4	734	1	0	0	0	0	0	0	0	1	11944	697	25	2		2	PIP5KL1	9	130684387	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	115100	130684387	10529044	494	41913											
GOLGA2	2801	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	9	131023004	131023004	+	Missense_Mutation	SNP	G	G	A	rs376675493		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:131023004G>A	ENST00000421699.2	-	17	1429	c.1417C>T	c.(1417-1419)Cgg>Tgg	p.R473W	GOLGA2_ENST00000609374.1_Missense_Mutation_p.R461W|AL590708.1_ENST00000408370.1_RNA	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	473					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						AGCTCCTTCCGCAGGTGCTCA	0.637																																																0													21	24	23					9																	131023004		2203	4300	6503	SO:0001583	missense	2801			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.1417C>T	9.37:g.131023004G>A	ENSP00000416097:p.Arg473Trp		Q6GRM9|Q9BRB0|Q9NYF9	Missense_Mutation	SNP	ENST00000421699.2	37	CCDS6896.2	.	.	.	.	.	.	.	.	.	.	g	36	5.620943	0.96660	.	.	ENSG00000167110	ENST00000421699	T	0.24723	1.84	5.3	5.3	0.74995	.	0.303264	0.36815	N	0.002390	T	0.37073	0.0990	M	0.63843	1.955	0.33982	D	0.64812	D	0.56521	0.976	P	0.46975	0.533	T	0.55692	-0.8101	10	0.87932	D	0	.	18.9624	0.92681	0.0:0.0:1.0:0.0	.	473	Q08379	GOGA2_HUMAN	W	473	ENSP00000416097:R473W	ENSP00000416097:R473W	R	-	1	2	GOLGA2	130062825	0.990000	0.36364	0.028000	0.17463	0.807000	0.45602	6.781000	0.75068	2.482000	0.83794	0.305000	0.20034	CGG		0.637	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054358.2	NM_004486		A	131023004	G	A	131023004	3	1	734	1	0	0	0	0	1	0	0	0	6554	1086	38	1	1631	1	GOLGA2	9	131023004	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	338617	131023004	10190427	495	41914											
SPTAN1	6709	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	9	131329101	131329101	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:131329101C>T	ENST00000372731.4	+	2	192	c.82C>T	c.(82-84)Cgc>Tgc	p.R28C	SPTAN1_ENST00000358161.5_Missense_Mutation_p.R28C|SPTAN1_ENST00000372739.3_Missense_Mutation_p.R28C	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	28					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						CCGATACCACCGCTTCAAGGA	0.488																																					NSCLC(120;833 1744 2558 35612 37579)											0													106	105	105					9																	131329101		2203	4300	6503	SO:0001583	missense	6709			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"EF-hand domain containing"	11273	protein-coding gene	gene with protein product	"alpha-fodrin"	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.82C>T	9.37:g.131329101C>T	ENSP00000361816:p.Arg28Cys		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.625175	0.87560	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.36520	1.25;1.25;1.25	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.59183	0.2175	M	0.72479	2.2	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.998;1.0;0.999	P;D;P;D;D	0.77004	0.898;0.989;0.88;0.978;0.922	T	0.60347	-0.7281	10	0.72032	D	0.01	.	14.5719	0.68218	0.1549:0.8451:0.0:0.0	.	28;28;28;28;28	A6NG51;B4DTV8;Q13813-3;Q13813-2;Q13813	.;.;.;.;SPTA2_HUMAN	C	28	ENSP00000350882:R28C;ENSP00000361816:R28C;ENSP00000361824:R28C	ENSP00000350882:R28C	R	+	1	0	SPTAN1	130368922	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.801000	0.69115	2.829000	0.97493	0.655000	0.94253	CGC		0.488	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		T	131329101	C	T	131329101	3	4	734	1	0	0	0	0	1	0	0	0	15122	652	23	1	84	1	SPTAN1	9	131329101	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	306097	131329101	9884330	496	41915											
DOLPP1	57171	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	9	131849014	131849014	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:131849014G>A	ENST00000372546.4	+	7	649	c.617G>A	c.(616-618)cGa>cAa	p.R206Q	DOLPP1_ENST00000540102.1_Missense_Mutation_p.R65Q|DOLPP1_ENST00000406974.3_Missense_Mutation_p.R163Q	NM_020438.4	NP_065171.2	Q86YN1	DOPP1_HUMAN	dolichyldiphosphatase 1	206					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|lipid biosynthetic process (GO:0008610)|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 endoplasmic reticulum membrane (GO:0030176)	dolichyldiphosphatase activity (GO:0047874)			endometrium(3)|kidney(2)|lung(7)|skin(1)	13						TTCCTAATCCGAGACACAAGC	0.577																																																0													139	116	124					9																	131849014		2203	4300	6503	SO:0001583	missense	57171			BC009493	CCDS6918.1, CCDS48039.1	9q34.1	2013-05-21	2013-05-21		ENSG00000167130	ENSG00000167130	3.6.1.43		29565	protein-coding gene	gene with protein product	"linked to Surfeit genes in Fugu rubripes 2"	614516	"dolichyl pyrophosphate phosphatase 1"			10369878, 12198133	Standard	NM_020438		Approved	LSFR2	uc004bxc.3	Q86YN1	OTTHUMG00000020771	ENST00000372546.4:c.617G>A	9.37:g.131849014G>A	ENSP00000361625:p.Arg206Gln		A8K3U8|B0QZG4|Q96GF8|Q9Y3G1	Missense_Mutation	SNP	ENST00000372546.4	37	CCDS6918.1	.	.	.	.	.	.	.	.	.	.	G	36	5.833991	0.97003	.	.	ENSG00000167130	ENST00000372546;ENST00000406974;ENST00000540102	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.75722	0.3888	M	0.73372	2.23	0.80722	D	1	D;D	0.63880	0.993;0.973	P;P	0.57720	0.826;0.467	T	0.76825	-0.2816	9	0.52906	T	0.07	-17.6525	18.4844	0.90823	0.0:0.0:1.0:0.0	.	163;206	B0QZG4;Q86YN1	.;DOPP1_HUMAN	Q	206;163;65	.	ENSP00000361625:R206Q	R	+	2	0	DOLPP1	130888835	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.375000	0.97178	2.607000	0.88179	0.555000	0.69702	CGA		0.577	DOLPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054548.4	NM_020438		A	131849014	G	A	131849014	3	1	734	1	0	0	0	0	1	0	0	0	4706	1058	37	1	643	1	DOLPP1	9	131849014	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	519913	131849014	9364417	497	41916											
BAT2L1	84726	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	9	134334701	134334701	+	Silent	SNP	G	G	A	rs565217318	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:134334701G>A	ENST00000357304.4	+	10	1417	c.1362G>A	c.(1360-1362)ccG>ccA	p.P454P	PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000405995.1_Silent_p.P454P|PRRC2B_ENST00000458550.1_Silent_p.P454P	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	454							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CTCAGCCACCGCCCAGGAAGC	0.617													G|||	2	0.000399361	0.0	0.0	5008	,	,		15507	0.0		0.0	False		,,,				2504	0.002															0													39	47	44					9																	134334701		2077	4213	6290	SO:0001819	synonymous_variant	84726			AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"KIAA0515", "HLA-B associated transcript 2-like", "HLA-B associated transcript 2-like 1"	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.1362G>A	9.37:g.134334701G>A			O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Silent	SNP	ENST00000357304.4	37	CCDS48044.1																																																																																				0.617	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				A	134334701	G	A	134334701	2	1	734	1	0	0	0	0	0	0	0	1	1320	1074	38	1		1	BAT2L1	9	134334701	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	2485687	134334701	6878730	498	41917											
NTNG2	84628	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	9	135073709	135073709	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:135073709G>A	ENST00000393229.3	+	3	1346	c.570G>A	c.(568-570)gcG>gcA	p.A190A	NTNG2_ENST00000393228.4_Silent_p.A190A|NTNG2_ENST00000360670.3_Silent_p.A190A|NTNG2_ENST00000372179.3_Silent_p.A190A	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	190	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		CCTCCAGCGCGCACCGCGTGC	0.677																																																0													33	27	29					9																	135073709		2203	4296	6499	SO:0001819	synonymous_variant	84628			AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"Netrins"	14288	protein-coding gene	gene with protein product	"Netrin-G2"		"netrin G1"	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.570G>A	9.37:g.135073709G>A			Q5JUJ2|Q6UXY0|Q96JH0	Silent	SNP	ENST00000393229.3	37	CCDS6946.1																																																																																				0.677	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	NM_032536		A	135073709	G	A	135073709	2	1	734	1	0	0	0	0	0	0	0	1	10707	1074	38	1		1	NTNG2	9	135073709	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	739008	135073709	6139722	499	41918											
GTF3C4	9329	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	9	135553528	135553528	+	Silent	SNP	C	C	T	rs372437145		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:135553528C>T	ENST00000372146.4	+	2	1086	c.522C>T	c.(520-522)tgC>tgT	p.C174C	GTF3C4_ENST00000483873.2_Intron	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	174					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)		CCATGGGTTGCGATGCTAATG	0.532																																					Pancreas(142;417 1875 11086 31973 47667)											0								C		0,4406		0,0,2203	114	111	112		522	-2.7	1	9		112	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GTF3C4	NM_012204.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		174/823	135553528	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9329			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.522C>T	9.37:g.135553528C>T			Q5VZJ7	Silent	SNP	ENST00000372146.4	37	CCDS6953.1																																																																																				0.532	GTF3C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054792.1			T	135553528	C	T	135553528	2	4	734	1	0	0	0	0	0	0	0	1	6877	776	27	1		1	GTF3C4	9	135553528	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	479819	135553528	5659903	500	41919											
GTF3C5	9328	broad.mit.edu;ucsc.edu;mdanderson.org	37	9	135919149	135919149	+	Silent	SNP	G	G	A	rs575422131		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:135919149G>A	ENST00000372097.5	+	3	731	c.408G>A	c.(406-408)acG>acA	p.T136T	GTF3C5_ENST00000372095.5_Silent_p.T11T|GTF3C5_ENST00000372108.5_Silent_p.T136T|GTF3C5_ENST00000372099.6_Silent_p.T127T|GTF3C5_ENST00000485692.1_3'UTR|GTF3C5_ENST00000342018.8_Silent_p.T136T	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	136					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		CTGTGCATACGGAAGCAGGCG	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		19894	0.0		0.0	False		,,,				2504	0.001															0													102	83	89					9																	135919149		2203	4300	6503	SO:0001819	synonymous_variant	9328			AF133124	CCDS6958.1, CCDS48050.1, CCDS75927.1	9q34.13	2010-03-23	2002-08-29		ENSG00000148308	ENSG00000148308		"General transcription factors"	4668	protein-coding gene	gene with protein product	"transcription factor IIIC, 63 kD"	604890	"general transcription factor IIIC, polypeptide 5 (63kD)"			10373544	Standard	NM_012087		Approved	TFiiiC2-63, TFIIIC63, TFIIICepsilon	uc004ccj.4	Q9Y5Q8	OTTHUMG00000020856	ENST00000372097.5:c.408G>A	9.37:g.135919149G>A			A6NI44|A6NJB9|Q5T7U2|Q5T7U3|Q8N2U7|Q8N857|Q96GD9|Q9H4P2	Silent	SNP	ENST00000372097.5	37	CCDS6958.1																																																																																				0.567	GTF3C5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054826.1	NM_001122823		A	135919149	G	A	135919149	2	1	734	1	0	0	0	0	0	0	0	1	6878	1103	39	1		1	GTF3C5	9	135919149	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	365621	135919149	5294282	501	41920											
COL5A1	1289	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	9	137712006	137712006	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:137712006G>T	ENST00000371817.3	+	58	4905	c.4491G>T	c.(4489-4491)caG>caT	p.Q1497H		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1497	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)		CGGGTGAACAGGGTGAGAAGG	0.622																																																0													104	97	99					9																	137712006		2203	4300	6503	SO:0001583	missense	1289			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.4491G>T	9.37:g.137712006G>T	ENSP00000360882:p.Gln1497His		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.790277	0.50102	.	.	ENSG00000130635	ENST00000371817;ENST00000355306	D	0.92805	-3.11	4.69	3.77	0.43336	.	0.000000	0.85682	U	0.000000	D	0.89255	0.6663	M	0.65975	2.015	0.49483	D	0.999797	B	0.15719	0.014	B	0.17722	0.019	D	0.85085	0.0948	10	0.62326	D	0.03	.	6.8449	0.23982	0.1697:0.1461:0.6843:0.0	.	1497	P20908	CO5A1_HUMAN	H	1497;34	ENSP00000360882:Q1497H	ENSP00000347458:Q34H	Q	+	3	2	COL5A1	136851827	1.000000	0.71417	0.992000	0.48379	0.970000	0.65996	1.914000	0.39966	0.923000	0.37045	0.643000	0.83706	CAG		0.622	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		T	137712006	G	T	137712006	3	4	734	1	0	0	0	0	1	0	0	0	3698	991	35	4	4721	4	COL5A1	9	137712006	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1792857	137712006	3501425	502	41921											
C9orf86	55684	broad.mit.edu;mdanderson.org	37	9	139730292	139730292	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:139730292C>T	ENST00000311502.7	+	8	1040	c.804C>T	c.(802-804)taC>taT	p.Y268Y	RABL6_ENST00000432842.2_Silent_p.Y230Y|RABL6_ENST00000371663.4_Silent_p.Y269Y|RABL6_ENST00000466096.1_3'UTR|RABL6_ENST00000371675.3_Silent_p.Y153Y|RABL6_ENST00000357466.2_Silent_p.Y268Y			Q3YEC7	RABL6_HUMAN	RAB, member RAS oncogene family-like 6	268	Small GTPase-like.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)										ACCAGAACTACGGCATGTATG	0.687																																																0													21	29	26					9																	139730292		2054	4098	6152	SO:0001819	synonymous_variant	55684			AK094382	CCDS48058.1, CCDS55352.1, CCDS55353.1	9q34.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000196642	ENSG00000196642			24703	protein-coding gene	gene with protein product	"Rab-like protein 1", "partner of ARF"	610615	"chromosome 9 open reading frame 86"	C9orf86		14702039, 16582619, 17962191, 19433581	Standard	NM_024718		Approved	FLJ10101, FLJ13045, pp8875, bA216L13.9, Parf, RBEL1	uc004cjj.1	Q3YEC7	OTTHUMG00000020947	ENST00000311502.7:c.804C>T	9.37:g.139730292C>T			A8QVZ7|A8QVZ8|C6K8I4|C6K8I5|Q4F968|Q5T5R7|Q8IWK1|Q8TCL4|Q8WU94|Q96SR8|Q9BU21|Q9H935	Silent	SNP	ENST00000311502.7	37	CCDS48058.1																																																																																				0.687	RABL6-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055141.4	NM_024718		T	139730292	C	T	139730292	2	4	734	1	0	0	0	0	0	0	0	1	2504	547	19	1		1	C9orf86	9	139730292	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	2018286	139730292	1483139	503	41922											
ABCA2	20	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	9	139908708	139908708	+	Silent	SNP	G	G	A	rs567851206		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:139908708G>A	ENST00000371605.3	-	26	4296	c.4149C>T	c.(4147-4149)ggC>ggT	p.G1383G	ABCA2_ENST00000341511.6_Silent_p.G1384G|ABCA2_ENST00000265662.5_Silent_p.G1384G			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1383					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)		CTCCCTCGTCGCCACGGGCAG	0.652													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15627	0.0		0.0	False		,,,				2504	0.0															0													17	21	20					9																	139908708		2184	4283	6467	SO:0001819	synonymous_variant	20			U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"ATP binding cassette transporters / subfamily A"	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.4149C>T	9.37:g.139908708G>A			A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Silent	SNP	ENST00000371605.3	37																																																																																					0.652	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		A	139908708	G	A	139908708	2	1	734	1	0	0	0	0	0	0	0	1	32	1074	38	1		1	ABCA2	9	139908708	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	178416	139908708	1304723	504	41923											
ABCA2	20	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	9	139915957	139915957	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:139915957G>A	ENST00000371605.3	-	7	928	c.781C>T	c.(781-783)Cag>Tag	p.Q261*	ABCA2_ENST00000492260.1_5'UTR|ABCA2_ENST00000341511.6_Nonsense_Mutation_p.Q262*|ABCA2_ENST00000265662.5_Nonsense_Mutation_p.Q262*			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	261					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)		CGGTAGCCCTGCAGGGCTCCC	0.687																																																0													14	19	17					9																	139915957		2158	4267	6425	SO:0001587	stop_gained	20			U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"ATP binding cassette transporters / subfamily A"	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.781C>T	9.37:g.139915957G>A	ENSP00000360666:p.Gln261*		A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Nonsense_Mutation	SNP	ENST00000371605.3	37		.	.	.	.	.	.	.	.	.	.	g	24.6	4.544433	0.86022	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	.	.	.	4.03	3.04	0.35103	.	5.649370	0.01815	U	0.033717	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	.	6.235	0.20758	0.0:0.2773:0.4324:0.2903	.	.	.	.	X	262;261;292;262	.	ENSP00000265662:Q262X	Q	-	1	0	ABCA2	139035778	0.060000	0.20803	0.973000	0.42090	0.347000	0.29111	0.572000	0.23684	1.784000	0.52394	0.197000	0.17608	CAG		0.687	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		A	139915957	G	A	139915957	4	1	734	1	0	0	0	0	0	1	0	0	32	1328	46	2	6694	2	ABCA2	9	139915957	Nonsense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	7249	139915957	1297474	505	41924											
UAP1L1	91373	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	9	139973538	139973538	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:139973538C>T	ENST00000409858.3	+	4	813	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W	UAP1L1_ENST00000476184.1_3'UTR|UAP1L1_ENST00000360271.3_Missense_Mutation_p.R138W	NM_207309.2	NP_997192.2	Q3KQV9	UAP1L_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1 like 1	261							uridylyltransferase activity (GO:0070569)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		CATCCTGGTGCGGCTGGCGGA	0.657																																																0													81	79	80					9																	139973538		2203	4300	6503	SO:0001583	missense	91373			AK022632	CCDS7028.2	9q34.3	2014-07-31	2014-07-31		ENSG00000197355	ENSG00000197355			28082	protein-coding gene	gene with protein product							Standard	NM_207309		Approved		uc010ncb.3	Q3KQV9	OTTHUMG00000020962	ENST00000409858.3:c.781C>T	9.37:g.139973538C>T	ENSP00000386935:p.Arg261Trp		A2AMJ8|Q5SPZ2|Q69YQ3|Q6ZR38	Missense_Mutation	SNP	ENST00000409858.3	37	CCDS7028.2	.	.	.	.	.	.	.	.	.	.	C	19.02	3.746443	0.69418	.	.	ENSG00000197355	ENST00000409858;ENST00000360271	T;T	0.17854	2.25;2.25	5.27	4.29	0.51040	.	0.107189	0.64402	D	0.000008	T	0.42291	0.1196	M	0.86178	2.8	0.36084	D	0.842964	D;D	0.76494	0.999;0.999	D;P	0.70016	0.967;0.893	T	0.56667	-0.7941	10	0.87932	D	0	.	10.321	0.43767	0.3919:0.6081:0.0:0.0	.	261;138	Q3KQV9;Q3KQV9-2	UAP1L_HUMAN;.	W	261;138	ENSP00000386935:R261W;ENSP00000353409:R138W	ENSP00000353409:R138W	R	+	1	2	UAP1L1	139093359	1.000000	0.71417	0.991000	0.47740	0.399000	0.30720	4.453000	0.60061	2.470000	0.83445	0.561000	0.74099	CGG		0.657	UAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055216.2	XM_038063		T	139973538	C	T	139973538	3	4	734	1	0	0	0	0	1	0	0	0	16831	759	27	1	795	1	UAP1L1	9	139973538	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	57581	139973538	1239893	506	41925											
ANAPC2	29882	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	9	140074818	140074818	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:140074818G>A	ENST00000323927.2	-	10	1709	c.1705C>T	c.(1705-1707)Cgc>Tgc	p.R569C		NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	569					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		GCATTGATGCGGCGGGAGTCC	0.677																																																0													37	38	38					9																	140074818		2203	4298	6501	SO:0001583	missense	29882			AB037827	CCDS7033.1	9q34.3	2011-06-15			ENSG00000176248	ENSG00000176248		"Anaphase promoting complex subunits"	19989	protein-coding gene	gene with protein product		606946				11739784	Standard	NM_013366		Approved	APC2, KIAA1406	uc004clr.1	Q9UJX6	OTTHUMG00000020983	ENST00000323927.2:c.1705C>T	9.37:g.140074818G>A	ENSP00000314004:p.Arg569Cys		Q5VSG1|Q96DG5|Q96GG4|Q9P2E1	Missense_Mutation	SNP	ENST00000323927.2	37	CCDS7033.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.363861	0.61513	.	.	ENSG00000176248	ENST00000323927	T	0.74947	-0.89	4.27	4.27	0.50696	Cullin, N-terminal (1);Cullin homology (3);	0.000000	0.85682	D	0.000000	D	0.87160	0.6108	M	0.91872	3.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88706	0.3219	10	0.87932	D	0	-18.2855	9.4373	0.38646	0.0:0.0:0.7879:0.2121	.	569;566	Q9UJX6;Q9UJX6-2	ANC2_HUMAN;.	C	569	ENSP00000314004:R569C	ENSP00000314004:R569C	R	-	1	0	ANAPC2	139194639	1.000000	0.71417	1.000000	0.80357	0.689000	0.40095	4.106000	0.57804	2.202000	0.70862	0.462000	0.41574	CGC		0.677	ANAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055315.1	NM_013366		A	140074818	G	A	140074818	3	1	734	1	0	0	0	0	1	0	0	0	603	1116	39	1	779	1	ANAPC2	9	140074818	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	101280	140074818	1138613	507	41926											
RNF208	727800	broad.mit.edu;bcgsc.ca	37	9	140115390	140115390	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:140115390G>A	ENST00000392827.1	-	2	443	c.275C>T	c.(274-276)cCg>cTg	p.P92L	RNF208_ENST00000391553.1_Missense_Mutation_p.P92L			Q9H0X6	RN208_HUMAN	ring finger protein 208	92					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)		TGGCAGTGGCGGGGTATGGGG	0.637																																																0													7	10	9					9																	140115390		1905	4068	5973	SO:0001583	missense	727800			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.275C>T	9.37:g.140115390G>A	ENSP00000376572:p.Pro92Leu		A2BFA0	Missense_Mutation	SNP	ENST00000392827.1	37	CCDS7037.2	.	.	.	.	.	.	.	.	.	.	G	7.445	0.641575	0.14451	.	.	ENSG00000212864	ENST00000392827;ENST00000391553	T;T	0.37752	1.18;1.18	3.44	3.44	0.39384	.	1.210940	0.06361	N	0.711722	T	0.38558	0.1045	N	0.19112	0.55	0.80722	D	1	D	0.64830	0.994	P	0.53146	0.719	T	0.17684	-1.0361	10	0.30854	T	0.27	-10.054	13.6115	0.62080	0.0:0.0:1.0:0.0	.	92	Q9H0X6	RN208_HUMAN	L	92	ENSP00000376572:P92L;ENSP00000375397:P92L	ENSP00000375397:P92L	P	-	2	0	RNF208	139235211	1.000000	0.71417	0.893000	0.35052	0.127000	0.20565	3.868000	0.56055	1.756000	0.51951	0.491000	0.48974	CCG		0.637	RNF208-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254714.1	NM_031297		A	140115390	G	A	140115390	3	1	734	1	0	0	0	0	1	0	0	0	13481	1116	39	1	514	1	RNF208	9	140115390	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	40572	140115390	1098041	508	41927											
PNPLA7	375775	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	9	140355132	140355132	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:140355132G>A	ENST00000277531.4	-	33	4010	c.3824C>T	c.(3823-3825)gCa>gTa	p.A1275V	NSMF_ENST00000371475.3_5'Flank|PNPLA7_ENST00000371457.1_Missense_Mutation_p.A881V|PNPLA7_ENST00000492278.1_5'UTR|NSMF_ENST00000371474.3_5'Flank|NSMF_ENST00000265663.7_5'Flank|PNPLA7_ENST00000406427.1_Missense_Mutation_p.A1300V|NSMF_ENST00000437259.1_5'Flank|NSMF_ENST00000371472.2_5'Flank|NSMF_ENST00000371473.3_5'Flank|NSMF_ENST00000392812.4_5'Flank	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	1275					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)		GTCTGCGTATGCATCCCTGGG	0.632																																																0													108	87	94					9																	140355132		2202	4300	6502	SO:0001583	missense	375775			AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"Patatin-like phospholipase domain containing"	24768	protein-coding gene	gene with protein product		612122	"chromosome 9 open reading frame 111"	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.3824C>T	9.37:g.140355132G>A	ENSP00000277531:p.Ala1275Val		B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Missense_Mutation	SNP	ENST00000277531.4	37	CCDS7045.1	.	.	.	.	.	.	.	.	.	.	G	11.92	1.782611	0.31502	.	.	ENSG00000130653	ENST00000371457;ENST00000371446;ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090	T;T;T;T;T	0.71222	-0.55;3.36;0.25;0.25;0.23	4.22	3.22	0.36961	.	0.433103	0.23604	N	0.046415	T	0.53174	0.1780	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.24368	0.049;0.102;0.027;0.003	B;B;B;B	0.28139	0.016;0.086;0.011;0.007	T	0.39921	-0.9590	10	0.31617	T	0.26	-1.2611	7.6817	0.28518	0.0:0.0:0.6711:0.3289	.	683;1300;1275;522	E2QRF8;Q6ZV29-5;Q6ZV29;B3KXH5	.;.;PLPL7_HUMAN;.	V	881;683;1275;1300;1212;1266	ENSP00000360512:A881V;ENSP00000360501:A683V;ENSP00000277531:A1275V;ENSP00000384610:A1300V;ENSP00000400582:A1266V	ENSP00000277531:A1275V	A	-	2	0	PNPLA7	139474953	0.934000	0.31675	0.002000	0.10522	0.123000	0.20343	0.082000	0.14847	1.888000	0.54679	0.563000	0.77884	GCA		0.632	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286		A	140355132	G	A	140355132	3	1	734	1	0	0	0	0	1	0	0	0	12172	1319	46	2	137	2	PNPLA7	9	140355132	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	239742	140355132	858299	509	41928											
CACNA1B	774	ucsc.edu;mdanderson.org	37	9	140865971	140865971	+	Silent	SNP	C	C	T	rs78326958	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:140865971C>T	ENST00000371372.1	+	11	1615	c.1470C>T	c.(1468-1470)tgC>tgT	p.C490C	CACNA1B_ENST00000371363.1_Silent_p.C490C|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371355.4_Silent_p.C491C|CACNA1B_ENST00000277551.2_Silent_p.C490C|CACNA1B_ENST00000371357.1_Silent_p.C491C	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	490					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	TGGTGCTGTGCGTGGTGGCCC	0.577													C|||	56	0.0111821	0.0129	0.0101	5008	,	,		18426	0.006		0.0119	False		,,,				2504	0.0143															0								C		53,4309		0,53,2128	102	117	111		1470	-9.6	0.8	9	dbSNP_131	111	86,8452		0,86,4183	no	coding-synonymous	CACNA1B	NM_000718.3		0,139,6311	TT,TC,CC		1.0073,1.215,1.0775		490/2340	140865971	139,12761	2181	4269	6450	SO:0001819	synonymous_variant	774			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.1470C>T	9.37:g.140865971C>T			B1AQK5	Silent	SNP	ENST00000371372.1	37	CCDS59522.1																																																																																				0.577	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		T	140865971	C	T	140865971	2	4	734	1	0	0	0	0	0	0	0	1	2541	776	27	1		1	CACNA1B	9	140865971	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	510839	140865971	347460	510	41929											
CACNA1B	774	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	9	140941360	140941360	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:140941360C>T	ENST00000371372.1	+	22	3563	c.3418C>T	c.(3418-3420)Cgc>Tgc	p.R1140C	CACNA1B_ENST00000371363.1_Missense_Mutation_p.R1140C|CACNA1B_ENST00000277549.5_Missense_Mutation_p.R332C|CACNA1B_ENST00000545473.1_Missense_Mutation_p.R166C|CACNA1B_ENST00000371355.4_Missense_Mutation_p.R1141C|CACNA1B_ENST00000277551.2_Missense_Mutation_p.R1140C|CACNA1B_ENST00000371357.1_Missense_Mutation_p.R1141C	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1140					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	TCACAGGCTCCGCCGCTTCTG	0.652																																																0													51	54	53					9																	140941360		2112	4216	6328	SO:0001583	missense	774			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.3418C>T	9.37:g.140941360C>T	ENSP00000360423:p.Arg1140Cys		B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	C	18.12	3.553682	0.65425	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355;ENST00000545473	T;T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87;0.87	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.73830	0.3637	M	0.93854	3.465	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.995;0.995	T	0.81920	-0.0712	10	0.87932	D	0	.	17.44	0.87562	0.0:1.0:0.0:0.0	.	1140;1141;1140	B1AQK4;B1AQK7;B1AQK6	.;.;.	C	1140;1140;332;1140;1141;1141;166	ENSP00000360423:R1140C;ENSP00000277551:R1140C;ENSP00000277549:R332C;ENSP00000360414:R1140C;ENSP00000360408:R1141C;ENSP00000360406:R1141C;ENSP00000441232:R166C	ENSP00000277549:R332C	R	+	1	0	CACNA1B	140061181	0.986000	0.35501	1.000000	0.80357	0.624000	0.37722	2.783000	0.47766	2.416000	0.81992	0.561000	0.74099	CGC		0.652	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		T	140941360	C	T	140941360	3	4	734	1	0	0	0	0	1	0	0	0	2541	652	23	1	3504	1	CACNA1B	9	140941360	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	75389	140941360	272071	511	41930											
WDR37	22884	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	10	1175232	1175232	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:1175232G>A	ENST00000358220.1	+	14	1577	c.1433G>A	c.(1432-1434)cGg>cAg	p.R478Q	WDR37_ENST00000263150.4_Missense_Mutation_p.R478Q			Q9Y2I8	WDR37_HUMAN	WD repeat domain 37	478										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)		GGGTTTGACCGGCAAGCCATT	0.502																																																0													122	96	105					10																	1175232		2203	4300	6503	SO:0001583	missense	22884			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.1433G>A	10.37:g.1175232G>A	ENSP00000350954:p.Arg478Gln		A8K976|D3DRQ7|Q5SW03|Q8WVG2|Q9NTJ6	Missense_Mutation	SNP	ENST00000358220.1	37	CCDS7057.1	.	.	.	.	.	.	.	.	.	.	G	36	5.831306	0.97003	.	.	ENSG00000047056	ENST00000358220;ENST00000263150	T;T	0.01323	5.01;5.01	5.72	5.72	0.89469	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.10680	0.0261	M	0.85542	2.76	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.76575	0.988;0.849	T	0.04481	-1.0948	10	0.33141	T	0.24	.	19.8706	0.96849	0.0:0.0:1.0:0.0	.	479;478	A8K976;Q9Y2I8	.;WDR37_HUMAN	Q	478	ENSP00000350954:R478Q;ENSP00000263150:R478Q	ENSP00000263150:R478Q	R	+	2	0	WDR37	1165232	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.731000	0.98807	2.692000	0.91855	0.561000	0.74099	CGG		0.502	WDR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046418.1	NM_014023		A	1175232	G	A	1175232	3	1	734	1	0	0	0	0	1	0	0	0	17296	1116	39	1	1483	1	WDR37	10	1175232	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10		1175232	134359515	512	41931											
GDI2	2665	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	10	5827121	5827121	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:5827121G>A	ENST00000380191.4	-	6	993	c.703C>T	c.(703-705)Ccc>Tcc	p.P235S	GDI2_ENST00000380181.3_Missense_Mutation_p.P190S|GDI2_ENST00000380132.4_Missense_Mutation_p.P239S	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2	235					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|Rab GDP-dissociation inhibitor activity (GO:0005093)|Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						AATCCTTGGGGCAGTTCTCCA	0.363																																																0													113	115	114					10																	5827121		2203	4300	6503	SO:0001583	missense	2665			D13988	CCDS7071.1, CCDS44352.1	10p15	2010-03-16			ENSG00000057608	ENSG00000057608			4227	protein-coding gene	gene with protein product	"rab GDP-dissociation"	600767				9434952	Standard	NM_001494		Approved	RABGDIB	uc001iil.4	P50395	OTTHUMG00000017607	ENST00000380191.4:c.703C>T	10.37:g.5827121G>A	ENSP00000369538:p.Pro235Ser		O43928|Q5SX88|Q9UQM6	Missense_Mutation	SNP	ENST00000380191.4	37	CCDS7071.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.665129	0.88251	.	.	ENSG00000057608	ENST00000380191;ENST00000380153;ENST00000447751;ENST00000380132;ENST00000380181;ENST00000456041	D;D;D;D;D	0.93547	-3.24;-3.24;-3.24;-3.24;-3.24	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.96583	0.8885	M	0.77103	2.36	0.80722	D	1	D;D;D	0.76494	0.999;0.996;0.999	D;D;D	0.74023	0.95;0.982;0.95	D	0.96498	0.9369	10	0.54805	T	0.06	-15.047	18.6982	0.91610	0.0:0.0:1.0:0.0	.	239;190;235	E7EU23;Q5SX88;P50395	.;.;GDIB_HUMAN	S	235;68;63;239;190;225	ENSP00000369538:P235S;ENSP00000387565:P63S;ENSP00000369475:P239S;ENSP00000369528:P190S;ENSP00000401733:P225S	ENSP00000369475:P239S	P	-	1	0	GDI2	5867127	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.721000	0.98766	2.594000	0.87642	0.655000	0.94253	CCC		0.363	GDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046580.1	NM_001494		A	5827121	G	A	5827121	3	1	734	1	0	0	0	0	1	0	0	0	6323	1203	42	2	658	2	GDI2	10	5827121	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	4651889	5827121	129707626	513	41932											
IL2RA	3559	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	10	6063568	6063568	+	Silent	SNP	G	G	A	rs377104035		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:6063568G>A	ENST00000379959.3	-	4	629	c.456C>T	c.(454-456)tgC>tgT	p.C152C	IL2RA_ENST00000256876.6_Silent_p.C152C|IL2RA_ENST00000379954.1_Intron	NM_000417.2	NP_000408.1	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha	152	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				activation-induced cell death of T cells (GO:0006924)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of defense response to virus (GO:0050687)|negative regulation of immune response (GO:0050777)|negative regulation of inflammatory response (GO:0050728)|negative regulation of T cell proliferation (GO:0042130)|Notch signaling pathway (GO:0007219)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of T cell differentiation (GO:0045582)|regulation of T cell homeostatic proliferation (GO:0046013)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|interleukin-2 receptor activity (GO:0004911)			endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	ATCCCTGGACGCACTGATAAT	0.527																																																0								G		0,4406		0,0,2203	178	157	164		456	-0.8	0.1	10		164	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	IL2RA	NM_000417.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		152/273	6063568	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3559			X01057	CCDS7076.1	10p15-p14	2014-09-17			ENSG00000134460	ENSG00000134460		"Interleukins and interleukin receptors", "CD molecules"	6008	protein-coding gene	gene with protein product		147730	"insulin-dependent diabetes mellitus 10"	IL2R, IDDM10		3925551, 17676041	Standard	NM_000417		Approved	CD25	uc001iiz.2	P01589	OTTHUMG00000017616	ENST00000379959.3:c.456C>T	10.37:g.6063568G>A			Q5W007	Silent	SNP	ENST00000379959.3	37	CCDS7076.1																																																																																				0.527	IL2RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046627.1	NM_000417		A	6063568	G	A	6063568	2	1	734	1	0	0	0	0	0	0	0	1	7688	1079	38	1		1	IL2RA	10	6063568	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	236447	6063568	129471179	514	41933											
RSU1	6251	broad.mit.edu	37	10	16858984	16858984	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:16858984C>T	ENST00000377921.3	-	1	398	c.97G>A	c.(97-99)Gtc>Atc	p.V33I	RSU1_ENST00000464074.2_Intron|RSU1_ENST00000602389.1_Intron|RSU1_ENST00000345264.5_Missense_Mutation_p.V33I			Q15404	RSU1_HUMAN	Ras suppressor protein 1	33					cell junction assembly (GO:0034329)|positive regulation of neural precursor cell proliferation (GO:2000179)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(1;7.54e-08)		AGGCCGTTGACATCCAGCATG	0.562																																																0													118	100	106					10																	16858984		2203	4300	6503	SO:0001583	missense	6251			AK055596	CCDS7112.1, CCDS31157.1	10p13	2012-09-20			ENSG00000148484	ENSG00000148484			10464	protein-coding gene	gene with protein product		179555				8288261	Standard	NM_152724		Approved	RSP-1, FLJ31034	uc001iol.3	Q15404	OTTHUMG00000017740	ENST00000377921.3:c.97G>A	10.37:g.16858984C>T	ENSP00000367154:p.Val33Ile		A8KA46|D3DRU3|Q6FI17	Missense_Mutation	SNP	ENST00000377921.3	37	CCDS7112.1	.	.	.	.	.	.	.	.	.	.	C	3.759	-0.050046	0.07407	.	.	ENSG00000148484	ENST00000345264;ENST00000377921	T;T	0.37058	1.22;1.22	5.21	3.38	0.38709	.	.	.	.	.	T	0.16642	0.0400	N	0.04508	-0.205	0.36840	D	0.887341	B;B	0.06786	0.001;0.0	B;B	0.10450	0.005;0.001	T	0.10154	-1.0642	9	0.22109	T	0.4	.	9.6892	0.40118	0.0:0.7749:0.0:0.2251	.	33;33	B0YJ73;Q15404	.;RSU1_HUMAN	I	33	ENSP00000339521:V33I;ENSP00000367154:V33I	ENSP00000339521:V33I	V	-	1	0	RSU1	16898990	0.968000	0.33430	0.947000	0.38551	0.667000	0.39255	0.782000	0.26788	0.800000	0.34041	0.555000	0.69702	GTC		0.562	RSU1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047006.1	NM_012425, NM_152724		T	16858984	C	T	16858984	3	4	734	1	0	0	0	0	1	0	0	0	13722	478	17	2	768	2	RSU1	10	16858984	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	10795416	16858984	118675763	515	41934											
NEBL	10529	broad.mit.edu	37	10	21097515	21097515	+	Silent	SNP	G	G	A	rs140245727	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:21097515G>A	ENST00000377122.4	-	26	3081	c.2685C>T	c.(2683-2685)gaC>gaT	p.D895D	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	895	Linker.				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						CTGACCTGTCGTCTCCGAGAC	0.458													G|||	5	0.000998403	0.0038	0.0	5008	,	,		16098	0.0		0.0	False		,,,				2504	0.0															0								G	,,	16,4390	23.3+/-48.9	0,16,2187	135	126	129		,2685,	-2.4	1	10	dbSNP_134	129	0,8600		0,0,4300	no	intron,coding-synonymous,intron	NEBL	NM_001173484.1,NM_006393.2,NM_213569.2	,,	0,16,6487	AA,AG,GG		0.0,0.3631,0.123	,,	,895/1015,	21097515	16,12990	2203	4300	6503	SO:0001819	synonymous_variant	10529			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.2685C>T	10.37:g.21097515G>A			B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Silent	SNP	ENST00000377122.4	37	CCDS7134.1																																																																																				0.458	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393		A	21097515	G	A	21097515	2	1	734	1	0	0	0	0	0	0	0	1	10305	1136	40	1		1	NEBL	10	21097515	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	4238531	21097515	114437232	516	41935											
RASSF4	83937	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	10	45485141	45485141	+	Silent	SNP	C	C	T	rs192302639		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:45485141C>T	ENST00000340258.5	+	8	770	c.657C>T	c.(655-657)ttC>ttT	p.F219F	RASSF4_ENST00000334940.6_Silent_p.F228F|RASSF4_ENST00000374417.2_3'UTR|RASSF4_ENST00000472561.1_3'UTR	NM_032023.3	NP_114412.2	Q8WYP3	RIN2_HUMAN	Ras association (RalGDS/AF-6) domain family member 4	834					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)			NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						CCAGTGAGTTCGCACTCTACA	0.557													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19556	0.0		0.0	False		,,,				2504	0.0															0													142	111	122					10																	45485141		2203	4300	6503	SO:0001819	synonymous_variant	83937			BC032593	CCDS7208.1	10q11.1	2008-02-22	2008-02-22		ENSG00000107551	ENSG00000107551			20793	protein-coding gene	gene with protein product		610559					Standard	NM_032023		Approved	AD037, MGC44914	uc001jbo.3	Q9H2L5	OTTHUMG00000018060	ENST00000340258.5:c.657C>T	10.37:g.45485141C>T			Q00425|Q5TFT8|Q9BQL3|Q9H071	Silent	SNP	ENST00000340258.5	37	CCDS7208.1																																																																																				0.557	RASSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047745.2	NM_032023		T	45485141	C	T	45485141	2	4	734	1	0	0	0	0	0	0	0	1	13094	883	31	1		1	RASSF4	10	45485141	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	24387626	45485141	90049606	517	41936											
C10orf71	118461	hgsc.bcm.edu;mdanderson.org	37	10	50534403	50534403	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:50534403C>T	ENST00000374144.3	+	3	4101	c.3813C>T	c.(3811-3813)ccC>ccT	p.P1271P	C10orf71_ENST00000323868.4_Intron			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	1271										endometrium(1)	1						CCGCGTACCCCGCCACCCAGA	0.667																																																0													3	6	5					10																	50534403		625	1488	2113	SO:0001819	synonymous_variant	118461			AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.3813C>T	10.37:g.50534403C>T			A0AVL8	Silent	SNP	ENST00000374144.3	37	CCDS44387.1																																																																																				0.667	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		T	50534403	C	T	50534403	2	4	734	1	0	0	0	0	0	0	0	1	1616	639	23	1		1	C10orf71	10	50534403	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	5049262	50534403	85000344	518	41937											
DDX50	79009	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	10	70695777	70695777	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:70695777C>T	ENST00000373585.3	+	11	1644	c.1537C>T	c.(1537-1539)Cgt>Tgt	p.R513C	DDX50_ENST00000466265.1_3'UTR	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	513	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						TACTTTTAAACGTGTAGGTGT	0.279																																																0													63	61	62					10																	70695777		2202	4298	6500	SO:0001583	missense	79009			AF334103	CCDS7283.1	10q22.2	2010-09-30			ENSG00000107625	ENSG00000107625		"DEAD-boxes"	17906	protein-coding gene	gene with protein product		610373				11891046	Standard	NM_024045		Approved	GU2, MGC3199, GUB, RH-II/GuB	uc001jou.3	Q9BQ39	OTTHUMG00000018362	ENST00000373585.3:c.1537C>T	10.37:g.70695777C>T	ENSP00000362687:p.Arg513Cys		Q5VX37|Q8WV76|Q9BWI8	Missense_Mutation	SNP	ENST00000373585.3	37	CCDS7283.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.531750	0.64972	.	.	ENSG00000107625	ENST00000373585;ENST00000541832	T	0.21543	2.0	5.46	5.46	0.80206	Helicase, C-terminal (1);	0.046278	0.85682	D	0.000000	T	0.29223	0.0727	M	0.77406	2.37	0.80722	D	1	B	0.33238	0.403	B	0.26202	0.067	T	0.13361	-1.0512	10	0.66056	D	0.02	-8.0118	18.6472	0.91415	0.0:1.0:0.0:0.0	.	513	Q9BQ39	DDX50_HUMAN	C	513	ENSP00000362687:R513C	ENSP00000362687:R513C	R	+	1	0	DDX50	70365783	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.308000	0.51896	2.725000	0.93324	0.591000	0.81541	CGT		0.279	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048363.1	NM_024045		T	70695777	C	T	70695777	3	4	734	1	0	0	0	0	1	0	0	0	4370	536	19	1	1579	1	DDX50	10	70695777	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	20161374	70695777	64838970	519	41938											
KIAA1274	27143	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	10	72324139	72324139	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:72324139C>T	ENST00000263563.6	+	19	2550	c.2282C>T	c.(2281-2283)gCg>gTg	p.A761V		NM_014431.2	NP_055246.2	Q9ULE6	PALD_HUMAN	phosphatase domain containing, paladin 1	761						cytosol (GO:0005829)											GCGAAAGAGGCGCAAGAAATG	0.617																																																0													77	75	76					10																	72324139		2203	4300	6503	SO:0001583	missense	27143			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.2282C>T	10.37:g.72324139C>T	ENSP00000263563:p.Ala761Val		B2RMS1|B9EGC6|Q5JTK7|Q5JTK8	Missense_Mutation	SNP	ENST00000263563.6	37	CCDS31215.1	.	.	.	.	.	.	.	.	.	.	c	10.63	1.404595	0.25378	.	.	ENSG00000107719	ENST00000263563;ENST00000373214	T	0.29917	1.55	4.9	2.42	0.29668	.	0.426837	0.24803	N	0.035474	T	0.24547	0.0595	L	0.47716	1.5	0.26423	N	0.976068	B	0.18610	0.029	B	0.12156	0.007	T	0.16158	-1.0412	10	0.40728	T	0.16	-12.6907	8.4465	0.32845	0.3575:0.52:0.0:0.1225	.	761	Q9ULE6	PALD_HUMAN	V	761;737	ENSP00000263563:A761V	ENSP00000263563:A761V	A	+	2	0	KIAA1274	71994145	1.000000	0.71417	0.147000	0.22382	0.613000	0.37349	1.533000	0.36040	0.168000	0.19655	-0.410000	0.06199	GCG		0.617	PALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048515.2	NM_014431		T	72324139	C	T	72324139	3	4	734	1	0	0	0	0	1	0	0	0	8222	768	27	1	2352	1	KIAA1274	10	72324139	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1628362	72324139	63210608	520	41939											
CHST3	9469	hgsc.bcm.edu;mdanderson.org	37	10	73768163	73768163	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:73768163C>T	ENST00000373115.4	+	3	1811	c.1374C>T	c.(1372-1374)gaC>gaT	p.D458D		NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN	carbohydrate (chondroitin 6) sulfotransferase 3	458					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						TGGCGCGGGACGCCGCCGCCC	0.692																																																0													13	12	12					10																	73768163		2164	4246	6410	SO:0001819	synonymous_variant	9469			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.1374C>T	10.37:g.73768163C>T			O75099|Q52M30	Silent	SNP	ENST00000373115.4	37	CCDS7312.1																																																																																				0.692	CHST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048563.1	NM_004273		T	73768163	C	T	73768163	2	4	734	1	0	0	0	0	0	0	0	1	3407	535	19	1		1	CHST3	10	73768163	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1444024	73768163	61766584	521	41940											
TSPAN14	81619	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	10	82269147	82269147	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:82269147C>T	ENST00000429989.3	+	5	593	c.370C>T	c.(370-372)Cgg>Tgg	p.R124W	TSPAN14_ENST00000481124.1_Intron|TSPAN14_ENST00000372164.3_Missense_Mutation_p.R107W|TSPAN14_ENST00000372158.1_Missense_Mutation_p.R124W|TSPAN14_ENST00000341863.6_Intron|TSPAN14_ENST00000372156.1_Missense_Mutation_p.R124W	NM_030927.2	NP_112189.2	Q8NG11	TSN14_HUMAN	tetraspanin 14	124					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)			GGACCGGTTCCGGGAGTTCTT	0.582																																																0													111	95	100					10																	82269147		2203	4300	6503	SO:0001583	missense	81619			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.370C>T	10.37:g.82269147C>T	ENSP00000396270:p.Arg124Trp		A6NHE1|B4DHY6|D3DWD7|D3DWD8|Q567U7|Q9BU34|Q9H0U1	Missense_Mutation	SNP	ENST00000429989.3	37	CCDS7369.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.256647	0.59321	.	.	ENSG00000108219	ENST00000429989;ENST00000372157;ENST00000372164;ENST00000372158;ENST00000372156	D;D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3;-2.3	5.21	4.23	0.50019	Tetraspanin, EC2 domain (1);	0.293169	0.37437	N	0.002084	T	0.82033	0.4949	L	0.47716	1.5	0.44048	D	0.996787	B;B	0.09022	0.001;0.002	B;B	0.15870	0.014;0.005	T	0.79845	-0.1631	10	0.72032	D	0.01	-34.6436	9.7385	0.40404	0.3472:0.6528:0.0:0.0	.	124;107	Q8NG11;Q8NG11-2	TSN14_HUMAN;.	W	124;94;107;124;124	ENSP00000396270:R124W;ENSP00000361230:R94W;ENSP00000361237:R107W;ENSP00000361231:R124W;ENSP00000361229:R124W	ENSP00000361229:R124W	R	+	1	2	TSPAN14	82259127	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.438000	0.59961	2.435000	0.82474	0.655000	0.94253	CGG		0.582	TSPAN14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049081.2	NM_030927		T	82269147	C	T	82269147	3	4	734	1	0	0	0	0	1	0	0	0	16643	643	23	1	384	1	TSPAN14	10	82269147	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	8500984	82269147	53265600	522	41941											
PANK1	53354	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	10	91371798	91371798	+	Silent	SNP	T	T	C	rs376656328		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:91371798T>C	ENST00000307534.4	-	2	866	c.711A>G	c.(709-711)ccA>ccG	p.P237P	PANK1_ENST00000371774.2_Silent_p.P39P|PANK1_ENST00000322191.6_Silent_p.P12P|PANK1_ENST00000342512.3_Silent_p.P12P	NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN	pantothenate kinase 1	237					coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell periphery (GO:0071944)|clathrin coat (GO:0030118)|cytosol (GO:0005829)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11						TGCCAAACCATGGGAATGCTA	0.433																																																0								T	,,	0,4406		0,0,2203	64	60	61		36,711,36	-12.2	0.1	10		61	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	PANK1	NM_138316.3,NM_148977.2,NM_148978.2	,,	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	,,	12/315,237/599,12/374	91371798	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	53354			AF355198	CCDS7405.1, CCDS7406.1, CCDS31244.1	10q23.31	2008-05-14	2002-11-13	2002-11-15	ENSG00000152782	ENSG00000152782			8598	protein-coding gene	gene with protein product		606160	"pantothenate kinase"	PANK		11809413	Standard	NM_148977		Approved	MGC24596, PANK1a, PANK1b	uc001kgp.2	Q8TE04	OTTHUMG00000018718	ENST00000307534.4:c.711A>G	10.37:g.91371798T>C			A6NIP0|Q7RTX6|Q7Z495|Q8TBQ8	Silent	SNP	ENST00000307534.4	37	CCDS31244.1																																																																																				0.433	PANK1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				C	91371798	T	C	91371798	2	2	734	1	0	0	0	0	0	0	0	1	11418	1451	51	3		3	PANK1	10	91371798	Silent	SNP	T	TCGA-KN-8428-01A-11D-2310-10	9102651	91371798	44162949	523	41942											
CPEB3	22849	mdanderson.org	37	10	93999850	93999850	+	Silent	SNP	A	A	G	rs3824734	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:93999850A>G	ENST00000265997.4	-	2	430	c.258T>C	c.(256-258)ccT>ccC	p.P86P	CPEB3_ENST00000412050.4_Silent_p.P86P	NM_014912.4	NP_055727.3	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	86	Pro-rich.				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)				GCTGCTGAGGAGGCTGATGGA	0.721													G|||	3298	0.658546	0.9501	0.745	5008	,	,		9820	0.499		0.6173	False		,,,				2504	0.41															0								G	,	3896,456		1755,386,35	13	15	14		258,258	-0.1	1	10	dbSNP_107	14	5207,3285		1622,1963,661	no	coding-synonymous,coding-synonymous	CPEB3	NM_001178137.1,NM_014912.4	,	3377,2349,696	GG,GA,AA		38.6835,10.4779,29.1264	,	86/685,86/699	93999850	9103,3741	2176	4246	6422	SO:0001819	synonymous_variant	22849			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.258T>C	10.37:g.93999850A>G			Q5T389|Q9NQJ7|Q9Y2E9	Silent	SNP	ENST00000265997.4	37	CCDS31246.1																																																																																				0.721	CPEB3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049387.2	NM_014912		G	93999850	A	G	93999850	2	3	734	1	0	0	0	0	0	0	0	1	3804	291	11	3		3	CPEB3	10	93999850	Silent	SNP	A	TCGA-KN-8428-01A-11D-2310-10	2628052	93999850	41534897	524	41943											
MYOF	26509	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	10	95168570	95168570	+	Silent	SNP	T	T	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:95168570T>G	ENST00000359263.4	-	7	702	c.703A>C	c.(703-705)Aga>Cga	p.R235R	MYOF_ENST00000371502.4_Silent_p.R235R|MYOF_ENST00000371489.1_Silent_p.R235R|MYOF_ENST00000371501.4_Silent_p.R235R|MYOF_ENST00000358334.5_Silent_p.R235R	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	235	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Necessary for interaction with EHD2.				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						TTGTTTCCTCTCTTGATTCTT	0.517																																																0													129	121	124					10																	95168570		1940	4141	6081	SO:0001819	synonymous_variant	26509			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.703A>C	10.37:g.95168570T>G			B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Silent	SNP	ENST00000359263.4	37	CCDS41551.1																																																																																				0.517	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451		G	95168570	T	G	95168570	2	3	734	1	0	0	0	0	0	0	0	1	10091	1559	54	5		5	MYOF	10	95168570	Silent	SNP	T	TCGA-KN-8428-01A-11D-2310-10	1168720	95168570	40366177	525	41944											
PLCE1	51196	broad.mit.edu	37	10	96022395	96022395	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:96022395G>A	ENST00000371380.3	+	13	4194	c.3959G>A	c.(3958-3960)gGc>gAc	p.G1320D	PLCE1_ENST00000371375.1_Missense_Mutation_p.G1012D|PLCE1_ENST00000371385.3_Missense_Mutation_p.G1012D|PLCE1_ENST00000260766.3_Missense_Mutation_p.G1320D			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1320					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)				ACATCTCTGGGCATTTTTGGG	0.473																																																0													213	206	208					10																	96022395		1988	4176	6164	SO:0001583	missense	51196				CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"nephrosis type 3"	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.3959G>A	10.37:g.96022395G>A	ENSP00000360431:p.Gly1320Asp		A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.926955	0.92319	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.24908	1.83;1.83;1.85;1.85	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.46870	0.1415	L	0.44542	1.39	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.996	T	0.28138	-1.0053	10	0.56958	D	0.05	.	19.9596	0.97236	0.0:0.0:1.0:0.0	.	1304;1012;1320	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	D	1320;1320;1012;1012	ENSP00000260766:G1320D;ENSP00000360431:G1320D;ENSP00000360438:G1012D;ENSP00000360426:G1012D	ENSP00000260766:G1320D	G	+	2	0	PLCE1	96012385	1.000000	0.71417	0.976000	0.42696	0.799000	0.45148	9.827000	0.99397	2.726000	0.93360	0.655000	0.94253	GGC		0.473	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		A	96022395	G	A	96022395	3	1	734	1	0	0	0	0	1	0	0	0	12036	1203	42	2	4295	2	PLCE1	10	96022395	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	853825	96022395	39512352	526	41945											
NOC3L	64318	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	10	96121511	96121511	+	Missense_Mutation	SNP	C	C	T	rs77771649	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:96121511C>T	ENST00000371361.3	-	2	228	c.128G>A	c.(127-129)cGa>cAa	p.R43Q	NOC3L_ENST00000463649.1_5'UTR|NOC3L_ENST00000371350.1_Missense_Mutation_p.R43Q	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	43					fat cell differentiation (GO:0045444)	nuclear speck (GO:0016607)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				CTGTTCTTTTCGGTACTTCTT	0.373													C|||	18	0.00359425	0.0121	0.0029	5008	,	,		19349	0.0		0.0	False		,,,				2504	0.0															0								C	GLN/ARG	37,4369	41.6+/-74.8	0,37,2166	280	247	258		128	4.2	1	10	dbSNP_132	258	1,8599	1.2+/-3.3	0,1,4299	yes	missense	NOC3L	NM_022451.9	43	0,38,6465	TT,TC,CC		0.0116,0.8398,0.2922	probably-damaging	43/801	96121511	38,12968	2203	4300	6503	SO:0001583	missense	64318			AL355341	CCDS7433.1	10q23.33	2004-04-20	2005-08-01	2005-08-01	ENSG00000173145	ENSG00000173145			24034	protein-coding gene	gene with protein product		610769	"chromosome 10 open reading frame 117"	C10orf117		15564382	Standard	NM_022451		Approved	AD24, FLJ12820, FAD24	uc001kjq.1	Q8WTT2	OTTHUMG00000018788	ENST00000371361.3:c.128G>A	10.37:g.96121511C>T	ENSP00000360412:p.Arg43Gln		Q9H5M6|Q9H9D8	Missense_Mutation	SNP	ENST00000371361.3	37	CCDS7433.1	8	0.003663003663003663	6	0.012195121951219513	2	0.0055248618784530384	0	0.0	0	0.0	C	31	5.065118	0.93898	0.008398	1.16E-4	ENSG00000173145	ENST00000371361;ENST00000371350	T;T	0.12672	2.66;2.66	5.09	4.19	0.49359	.	0.000000	0.85682	D	0.000000	T	0.16085	0.0387	N	0.19112	0.55	0.48185	D	0.999601	D	0.89917	1.0	D	0.79108	0.992	T	0.02417	-1.1162	10	0.62326	D	0.03	-4.2335	13.3566	0.60631	0.0:0.9238:0.0:0.0762	.	43	Q8WTT2	NOC3L_HUMAN	Q	43	ENSP00000360412:R43Q;ENSP00000360401:R43Q	ENSP00000360401:R43Q	R	-	2	0	NOC3L	96111501	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	7.461000	0.80834	1.145000	0.42336	0.561000	0.74099	CGA		0.373	NOC3L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049466.1	NM_022451		T	96121511	C	T	96121511	3	4	734	1	0	0	0	0	1	0	0	0	10516	884	31	1	2354	1	NOC3L	10	96121511	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	99116	96121511	39413236	527	41946											
HPS1	3257	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	10	100177455	100177455	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:100177455G>A	ENST00000325103.6	-	20	2202	c.1969C>T	c.(1969-1971)Cgc>Tgc	p.R657C	HPS1_ENST00000467246.1_5'UTR|PYROXD2_ENST00000370575.4_5'Flank|HPS1_ENST00000361490.4_Missense_Mutation_p.R657C	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	657					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)	p.R657C(1)		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)		TCGGTTGGGCGGTTCTTGCTG	0.662									Hermansky-Pudlak syndrome																																							1	Substitution - Missense(1)	prostate(1)											69	63	65					10																	100177455		2203	4300	6503	SO:0001583	missense	3257	Familial Cancer Database	HPS, HPS1-8	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.1969C>T	10.37:g.100177455G>A	ENSP00000326649:p.Arg657Cys		A8MRT2|O15402|O15502|Q5TAA3|Q8WXE5	Missense_Mutation	SNP	ENST00000325103.6	37	CCDS7475.1	.	.	.	.	.	.	.	.	.	.	G	18.54	3.646100	0.67358	.	.	ENSG00000107521	ENST00000325103;ENST00000361490;ENST00000407891	T;T	0.33438	1.41;1.41	5.5	4.59	0.56863	.	0.252703	0.46442	D	0.000298	T	0.36880	0.0983	L	0.44542	1.39	0.80722	D	1	D;D	0.71674	0.998;0.997	P;P	0.52856	0.599;0.711	T	0.03524	-1.1028	10	0.38643	T	0.18	.	13.7676	0.63004	0.0735:0.0:0.9265:0.0	.	624;658	Q92902-2;D3DR62	.;.	C	657;657;624	ENSP00000326649:R657C;ENSP00000355310:R657C	ENSP00000326649:R657C	R	-	1	0	HPS1	100167445	1.000000	0.71417	0.998000	0.56505	0.533000	0.34776	7.607000	0.82883	2.593000	0.87608	0.456000	0.33151	CGC		0.662	HPS1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049776.1	NM_000195, NM_182637, NM_182638, NM_182639		A	100177455	G	A	100177455	3	1	734	1	0	0	0	0	1	0	0	0	7341	1116	39	1	137	1	HPS1	10	100177455	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	4055944	100177455	35357292	528	41947											
COX15	1355	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	10	101483798	101483798	+	Missense_Mutation	SNP	C	C	T	rs377568460		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:101483798C>T	ENST00000016171.5	-	5	715	c.665G>A	c.(664-666)cGc>cAc	p.R222H	COX15_ENST00000370483.5_Missense_Mutation_p.R222H|CUTC_ENST00000493385.1_Intron			Q7KZN9	COX15_HUMAN	cytochrome c oxidase assembly homolog 15 (yeast)	222					cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)|oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		GGCAGCAAGGCGGTACTGACT	0.522																																																0								C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	131	129	130		665,665	4.6	1	10		130	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	COX15	NM_004376.5,NM_078470.4	29,29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	222/389,222/411	101483798	2,13004	2203	4300	6503	SO:0001583	missense	1355			AF044323	CCDS7481.1, CCDS7482.1	10q24	2014-09-17	2012-10-15		ENSG00000014919	ENSG00000014919		"Mitochondrial respiratory chain complex assembly factors"	2263	protein-coding gene	gene with protein product		603646	"COX15 (yeast) homolog, cytochrome c oxidase assembly protein", "COX15 homolog, cytochrome c oxidase assembly protein (yeast)"			9878253	Standard	NM_078470		Approved		uc001kqb.4	Q7KZN9	OTTHUMG00000018893	ENST00000016171.5:c.665G>A	10.37:g.101483798C>T	ENSP00000016171:p.Arg222His		A8K6I9|O60556|O75878|Q5TD00|Q5TD01|Q7Z3Q3|Q9NTN0	Missense_Mutation	SNP	ENST00000016171.5	37	CCDS7482.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.018218	0.93404	0.0	2.33E-4	ENSG00000014919	ENST00000370483;ENST00000016171	D;D	0.84442	-1.85;-1.85	4.61	4.61	0.57282	.	0.052347	0.85682	D	0.000000	D	0.95472	0.8529	H	0.97806	4.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.99;0.995	D	0.97566	1.0101	10	0.87932	D	0	-6.6653	17.8123	0.88619	0.0:1.0:0.0:0.0	.	222;222	Q7KZN9-2;Q7KZN9	.;COX15_HUMAN	H	222	ENSP00000359514:R222H;ENSP00000016171:R222H	ENSP00000016171:R222H	R	-	2	0	COX15	101473788	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.211000	0.77933	2.269000	0.75478	0.462000	0.41574	CGC		0.522	COX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049818.1	NP_510870		T	101483798	C	T	101483798	3	4	734	1	0	0	0	0	1	0	0	0	3766	768	27	1	657	1	COX15	10	101483798	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1306343	101483798	34050949	529	41948											
DNMBP	23268	broad.mit.edu;ucsc.edu	37	10	101716912	101716912	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:101716912G>A	ENST00000324109.4	-	4	410	c.319C>T	c.(319-321)Cga>Tga	p.R107*	DNMBP_ENST00000342239.3_Nonsense_Mutation_p.R107*|DNMBP-AS1_ENST00000434409.1_RNA	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	107	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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)		CAGCAGCTTCGGCCCTGCAGC	0.602																																																0													21	22	22					10																	101716912		2203	4299	6502	SO:0001587	stop_gained	23268			AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"Rho guanine nucleotide exchange factors"	30373	protein-coding gene	gene with protein product	"scaffold protein TUBA"	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.319C>T	10.37:g.101716912G>A	ENSP00000315659:p.Arg107*		Q8IVY3|Q9Y2L3	Nonsense_Mutation	SNP	ENST00000324109.4	37	CCDS7485.1	.	.	.	.	.	.	.	.	.	.	G	32	5.124634	0.94429	.	.	ENSG00000107554	ENST00000342239;ENST00000324109	.	.	.	5.46	4.55	0.56014	.	0.000000	0.41712	D	0.000830	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.6987	15.8694	0.79101	0.0:0.0:0.8632:0.1368	.	.	.	.	X	107	.	ENSP00000315659:R107X	R	-	1	2	DNMBP	101706902	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.754000	0.47532	1.412000	0.46977	0.555000	0.69702	CGA		0.602	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221		A	101716912	G	A	101716912	4	1	734	1	0	0	0	0	0	1	0	0	4676	1124	39	1	4470	1	DNMBP	10	101716912	Nonsense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	233114	101716912	33817835	530	41949											
SEMA4G	57715	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	10	102743469	102743469	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:102743469T>C	ENST00000370250.4	+	14	2471	c.2098T>C	c.(2098-2100)Tgt>Cgt	p.C700R	MRPL43_ENST00000342071.1_Intron|MRPL43_ENST00000370241.3_Intron|MRPL43_ENST00000370242.4_Intron|SEMA4G_ENST00000517724.1_Intron|MRPL43_ENST00000299179.5_Intron|RP11-108L7.4_ENST00000447344.1_RNA|MRPL43_ENST00000318325.2_Intron|MRPL43_ENST00000493646.1_5'Flank|SEMA4G_ENST00000210633.3_Missense_Mutation_p.C705R	NM_017893.3	NP_060363.2	Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	700					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		CTATGTGGCCTGTCTGCGGGA	0.637																																																0													54	49	51					10																	102743469		2203	4300	6503	SO:0001583	missense	57715			AB046839	CCDS7501.1, CCDS55724.1	10q24.31	2013-01-11			ENSG00000095539	ENSG00000095539		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10735	protein-coding gene	gene with protein product							Standard	NM_017893		Approved	FLJ20590, KIAA1619	uc001krw.2	Q9NTN9	OTTHUMG00000018922	ENST00000370250.4:c.2098T>C	10.37:g.102743469T>C	ENSP00000359270:p.Cys700Arg		A1A5C6|A6NJY8|Q58EY1|Q9HCF3	Missense_Mutation	SNP	ENST00000370250.4	37		.	.	.	.	.	.	.	.	.	.	t	19.60	3.857746	0.71834	.	.	ENSG00000095539	ENST00000370250;ENST00000210633	T;T	0.19394	2.15;2.21	5.53	5.53	0.82687	.	0.913030	0.09543	N	0.788077	T	0.33235	0.0856	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	T	0.01545	-1.1328	10	0.06757	T	0.87	.	14.843	0.70240	0.0:0.0:0.0:1.0	.	705	Q9NTN9-2	.	R	700;705	ENSP00000359270:C700R;ENSP00000210633:C705R	ENSP00000210633:C705R	C	+	1	0	SEMA4G	102733459	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.232000	0.78116	2.111000	0.64477	0.449000	0.29647	TGT		0.637	SEMA4G-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049920.2			C	102743469	T	C	102743469	3	2	734	1	0	0	0	0	1	0	0	0	14042	1580	55	3	2167	3	SEMA4G	10	102743469	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	1026557	102743469	32791278	531	41950											
CALHM1	255022	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	10	105215188	105215188	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:105215188C>T	ENST00000329905.5	-	2	1008	c.872G>A	c.(871-873)cGt>cAt	p.R291H	RP11-225H22.4_ENST00000411906.1_RNA|CALHM2_ENST00000393235.1_5'Flank	NM_001001412.3	NP_001001412.3	Q8IU99	CAHM1_HUMAN	calcium homeostasis modulator 1	291					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						CGTGATGCCACGCAGCTTCTC	0.667																																																0													72	54	60					10																	105215188		2203	4300	6503	SO:0001583	missense	255022			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.872G>A	10.37:g.105215188C>T	ENSP00000329926:p.Arg291His		Q5W091	Missense_Mutation	SNP	ENST00000329905.5	37	CCDS7550.1	.	.	.	.	.	.	.	.	.	.	C	7.643	0.681194	0.14907	.	.	ENSG00000185933	ENST00000329905	T	0.18657	2.2	4.8	1.81	0.25067	.	0.301816	0.30752	N	0.008960	T	0.08935	0.0221	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.35500	-0.9786	10	0.11182	T	0.66	-6.5134	5.7241	0.18002	0.2155:0.5563:0.0:0.2282	.	291	Q8IU99	CAHM1_HUMAN	H	291	ENSP00000329926:R291H	ENSP00000329926:R291H	R	-	2	0	CALHM1	105205178	0.209000	0.23505	0.671000	0.29857	0.688000	0.40055	1.658000	0.37376	0.543000	0.28864	0.462000	0.41574	CGT		0.667	CALHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050165.1	NM_001001412		T	105215188	C	T	105215188	3	4	734	1	0	0	0	0	1	0	0	0	2584	536	19	1	172	1	CALHM1	10	105215188	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	2471719	105215188	30319559	532	41951											
BTBD16	118663	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	10	124057337	124057337	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:124057337C>T	ENST00000260723.4	+	8	896	c.645C>T	c.(643-645)taC>taT	p.Y215Y	BTBD16_ENST00000368994.2_Silent_p.Y216Y	NM_144587.2	NP_653188.2	Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	215										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)				AGAAATTCTACGAGGCCGGCT	0.567																																																0													61	54	56					10																	124057337		2203	4300	6503	SO:0001819	synonymous_variant	118663			AK058088	CCDS31301.1	10q26.13	2013-01-24	2006-07-04	2006-07-04	ENSG00000138152	ENSG00000138152		"BTB/POZ domain containing"	26340	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 87"	C10orf87			Standard	NM_144587		Approved	FLJ25359, Em:AC061711.1	uc001lgc.1	Q32M84	OTTHUMG00000019182	ENST00000260723.4:c.645C>T	10.37:g.124057337C>T			A6NM63|Q4VXL1|Q96LN0	Silent	SNP	ENST00000260723.4	37	CCDS31301.1																																																																																				0.567	BTBD16-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050780.3	NM_144587		T	124057337	C	T	124057337	2	4	734	1	0	0	0	0	0	0	0	1	1543	547	19	1		1	BTBD16	10	124057337	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	18842149	124057337	11477410	533	41952											
PLEKHA1	59338	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	10	124172505	124172505	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:124172505C>T	ENST00000368990.3	+	6	543	c.412C>T	c.(412-414)Caa>Taa	p.Q138*	PLEKHA1_ENST00000433307.1_Nonsense_Mutation_p.Q138*|PLEKHA1_ENST00000368988.1_Nonsense_Mutation_p.Q138*|PLEKHA1_ENST00000494222.1_3'UTR|PLEKHA1_ENST00000538022.1_Nonsense_Mutation_p.Q138*|PLEKHA1_ENST00000368989.2_Nonsense_Mutation_p.Q138*	NM_001001974.2	NP_001001974.1	Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1	138					androgen metabolic process (GO:0008209)|B cell receptor signaling pathway (GO:0050853)|cellular response to hydrogen peroxide (GO:0070301)|establishment of protein localization (GO:0045184)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|multicellular organism growth (GO:0035264)|negative regulation of protein kinase B signaling (GO:0051898)|palate development (GO:0060021)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|ruffle organization (GO:0031529)|skeletal system morphogenesis (GO:0048705)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGGGAAAAAGCAAGTGTCTTA	0.383																																																0													132	119	124					10																	124172505		2203	4300	6503	SO:0001587	stop_gained	59338			AF286160	CCDS7629.1, CCDS55730.1	10q26.3	2013-01-10	2002-01-14		ENSG00000107679	ENSG00000107679		"Pleckstrin homology (PH) domain containing"	14335	protein-coding gene	gene with protein product	"tandem PH domain containing protein-1"	607772	"pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 1"			11001876, 15485858	Standard	NM_001001974		Approved	TAPP1	uc001lge.2	Q9HB21	OTTHUMG00000019184	ENST00000368990.3:c.412C>T	10.37:g.124172505C>T	ENSP00000357986:p.Gln138*		B3KQ55|D3DRE2|Q9BVK0	Nonsense_Mutation	SNP	ENST00000368990.3	37	CCDS7629.1	.	.	.	.	.	.	.	.	.	.	C	38	6.990199	0.97987	.	.	ENSG00000107679	ENST00000368990;ENST00000368989;ENST00000409427;ENST00000368988;ENST00000538022;ENST00000433307	.	.	.	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-19.5925	20.2314	0.98350	0.0:1.0:0.0:0.0	.	.	.	.	X	138	.	ENSP00000357984:Q138X	Q	+	1	0	PLEKHA1	124162495	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.126000	0.77201	2.789000	0.95967	0.591000	0.81541	CAA		0.383	PLEKHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050783.1	NM_001001974		T	124172505	C	T	124172505	4	4	734	1	0	0	0	0	0	1	0	0	12057	711	25	2	430	2	PLEKHA1	10	124172505	Nonsense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	115168	124172505	11362242	534	41953											
DOCK1	1793	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	10	129216676	129216676	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:129216676G>A	ENST00000280333.6	+	45	4609	c.4500G>A	c.(4498-4500)acG>acA	p.T1500T		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1500	DHR-2.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TGCAGCTGACGAACGACAAGA	0.597																																																0													62	73	69					10																	129216676		2199	4300	6499	SO:0001819	synonymous_variant	1793			D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"DOwnstream of CrK"	601403	"dedicator of cyto-kinesis 1"			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.4500G>A	10.37:g.129216676G>A			A9Z1Z5	Silent	SNP	ENST00000280333.6	37																																																																																					0.597	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380		A	129216676	G	A	129216676	2	1	734	1	0	0	0	0	0	0	0	1	4686	1045	37	1		1	DOCK1	10	129216676	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	5044171	129216676	6318071	535	41954											
MKI67	4288	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	10	129901498	129901498	+	Missense_Mutation	SNP	G	G	A	rs371728740		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:129901498G>A	ENST00000368654.3	-	13	8981	c.8606C>T	c.(8605-8607)aCg>aTg	p.T2869M	MKI67_ENST00000368653.3_Missense_Mutation_p.T2509M	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2869	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)				GTCGGTGTGCGTGGTCTCCCC	0.542																																																0													181	160	167					10																	129901498		2203	4300	6503	SO:0001583	missense	4288			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.8606C>T	10.37:g.129901498G>A	ENSP00000357643:p.Thr2869Met		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	G	8.274	0.813950	0.16537	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02121	4.44;4.44	4.16	-2.78	0.05859	.	.	.	.	.	T	0.02610	0.0079	L	0.56769	1.78	0.09310	N	1	B;B;B	0.21905	0.018;0.062;0.012	B;B;B	0.21708	0.005;0.036;0.01	T	0.40646	-0.9552	9	0.39692	T	0.17	.	4.8027	0.13305	0.4516:0.2774:0.271:0.0	.	2868;2509;2869	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	M	2869;2509;2868	ENSP00000357643:T2869M;ENSP00000357642:T2509M	ENSP00000357642:T2509M	T	-	2	0	MKI67	129791488	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.745000	0.00796	-0.609000	0.05724	-0.126000	0.14955	ACG		0.542	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		A	129901498	G	A	129901498	3	1	734	1	0	0	0	0	1	0	0	0	9600	1145	40	1	1176	1	MKI67	10	129901498	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	684822	129901498	5633249	536	41955											
KNDC1	85442	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	10	134996849	134996849	+	Splice_Site	SNP	C	C	T	rs201644896		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:134996849C>T	ENST00000304613.3	+	4	383	c.362C>T	c.(361-363)gCg>gTg	p.A121V	KNDC1_ENST00000368571.2_Splice_Site_p.A56V|KNDC1_ENST00000368572.2_Splice_Site_p.A121V			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	121	KIND 1. {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)		TGCCCACAGGCGCACATCTAC	0.657																																																0									VAL/ALA	1,4391		0,1,2195	17	16	17		362	2.5	0.6	10		17	0,8580		0,0,4290	yes	missense-near-splice	KNDC1	NM_152643.6	64	0,1,6485	TT,TC,CC		0.0,0.0228,0.0077	possibly-damaging	121/1750	134996849	1,12971	2196	4290	6486	SO:0001630	splice_region_variant	85442			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.361-1C>T	10.37:g.134996849C>T			B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.804390	0.50315	2.28E-4	0.0	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.30182	1.54;1.54;1.84	4.49	2.45	0.29901	KIND (2);	0.088104	0.46145	D	0.000304	T	0.24967	0.0606	M	0.67953	2.075	0.30336	N	0.786205	P;B	0.44195	0.828;0.213	B;B	0.35353	0.201;0.015	T	0.35773	-0.9775	10	0.87932	D	0	-13.4062	5.8947	0.18933	0.0:0.6975:0.1944:0.1081	.	56;121	Q76NI1-2;Q76NI1	.;VKIND_HUMAN	V	121;121;56	ENSP00000304437:A121V;ENSP00000357561:A121V;ENSP00000357560:A56V	ENSP00000304437:A121V	A	+	2	0	KNDC1	134846839	0.657000	0.27393	0.616000	0.29078	0.224000	0.24922	1.027000	0.30115	1.032000	0.39892	0.450000	0.29827	GCG		0.657	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643	Missense_Mutation	T	134996849	C	T	134996849	5	4	734	1	0	0	0	0	0	0	1	0	8428	782	27	1	376	1	KNDC1	10	134996849	Splice_Site	SNP	C	TCGA-KN-8428-01A-11D-2310-10	5095351	134996849	537898	537	41956											
ANO9	338440	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	11	428582	428582	+	Missense_Mutation	SNP	C	C	T	rs199542627		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:428582C>T	ENST00000332826.6	-	13	1162	c.1078G>A	c.(1078-1080)Gcg>Acg	p.A360T		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	360					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						CTGAAGAGCGCGGAGGCCAGG	0.667																																																0									THR/ALA	0,4388		0,0,2194	32	35	34		1078	2.2	0	11		34	2,8568	2.2+/-6.3	0,2,4283	yes	missense	ANO9	NM_001012302.2	58	0,2,6477	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	360/783	428582	2,12956	2194	4285	6479	SO:0001583	missense	338440			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.1078G>A	11.37:g.428582C>T	ENSP00000332788:p.Ala360Thr		B3KUC4|B4E134|Q8TEN4	Missense_Mutation	SNP	ENST00000332826.6	37	CCDS31326.1	.	.	.	.	.	.	.	.	.	.	C	9.850	1.193288	0.22037	0.0	2.33E-4	ENSG00000185101	ENST00000332826	T	0.63744	-0.06	4.17	2.21	0.28008	.	1.993630	0.02753	U	0.117660	T	0.66277	0.2773	L	0.48877	1.53	0.09310	N	1	D;D	0.64830	0.981;0.994	P;P	0.53954	0.481;0.738	T	0.52646	-0.8548	10	0.17369	T	0.5	.	8.8995	0.35485	0.0:0.764:0.1515:0.0845	.	61;360	A1A5B4-2;A1A5B4	.;ANO9_HUMAN	T	360	ENSP00000332788:A360T	ENSP00000332788:A360T	A	-	1	0	ANO9	418582	0.013000	0.17824	0.002000	0.10522	0.001000	0.01503	1.289000	0.33307	0.879000	0.35944	-0.532000	0.04303	GCG		0.667	ANO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384116.1	NM_001012302		T	428582	C	T	428582	3	4	734	1	0	0	0	0	1	0	0	0	704	768	27	1	1314	1	ANO9	11	428582	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10		428582	134577934	538	41957											
MUC5B	727897	hgsc.bcm.edu	37	11	1253980	1253980	+	Missense_Mutation	SNP	A	A	G	rs202127660		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:1253980A>G	ENST00000529681.1	+	17	2103	c.2045A>G	c.(2044-2046)gAc>gGc	p.D682G	MUC5B_ENST00000447027.1_Missense_Mutation_p.D685G	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	682					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)		CAGCTCAGCGACTGGAGGGAC	0.682																																																0													21	24	23					11																	1253980		2116	4228	6344	SO:0001583	missense	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.2045A>G	11.37:g.1253980A>G	ENSP00000436812:p.Asp682Gly		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	A	7.541	0.660740	0.14645	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.76060	-0.99;-0.99	4.6	2.72	0.32119	Uncharacterised domain, cysteine-rich (2);	.	.	.	.	T	0.50103	0.1596	N	0.02960	-0.455	0.24874	N	0.992269	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.45920	-0.9228	9	0.87932	D	0	.	8.6635	0.34108	0.2416:0.0:0.7584:0.0	.	682;1341;685	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	G	682;685;683;718	ENSP00000436812:D682G;ENSP00000415793:D685G	ENSP00000343037:D683G	D	+	2	0	MUC5B	1210556	0.999000	0.42202	0.632000	0.29296	0.070000	0.16714	2.607000	0.46300	0.373000	0.24621	-1.983000	0.00453	GAC		0.682	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		G	1253980	A	G	1253980	3	3	734	1	0	0	0	0	1	0	0	0	9981	275	10	3	2120	3	MUC5B	11	1253980	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	825398	1253980	133752536	539	41958											
TRIM68	55128	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	11	4624492	4624492	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:4624492G>A	ENST00000300747.5	-	3	794	c.505C>T	c.(505-507)Cga>Tga	p.R169*		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	169					protein autoubiquitination (GO:0051865)|regulation of androgen receptor signaling pathway (GO:0060765)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|histone acetyltransferase binding (GO:0035035)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		GTGGCAGTTCGTTTCCTTTCA	0.522																																																0													184	159	167					11																	4624492		2201	4298	6499	SO:0001587	stop_gained	55128			AF360739	CCDS31356.1	11p15.4	2013-01-09	2011-01-25	2004-11-17		ENSG00000167333		"RING-type (C3HC4) zinc fingers", "Tripartite motif containing / Tripartite motif containing"	21161	protein-coding gene	gene with protein product		613184	"ring finger protein 137", "tripartite motif-containing 68"	RNF137		11597395	Standard	NM_018073		Approved	SS-56, FLJ10369	uc001lzf.2	Q6AZZ1		ENST00000300747.5:c.505C>T	11.37:g.4624492G>A	ENSP00000300747:p.Arg169*		A6NI19|A8K551|B3KPM5|B4DVK4|Q8WZ70|Q96LE5|Q96PF7|Q9H9C2|Q9NW18	Nonsense_Mutation	SNP	ENST00000300747.5	37	CCDS31356.1	.	.	.	.	.	.	.	.	.	.	G	31	5.079343	0.94050	.	.	ENSG00000167333	ENST00000300747	.	.	.	4.76	1.54	0.23209	.	0.808617	0.10194	N	0.704299	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	.	4.9031	0.13784	0.1013:0.0:0.5219:0.3768	.	.	.	.	X	169	.	ENSP00000300747:R169X	R	-	1	2	TRIM68	4581068	0.009000	0.17119	0.530000	0.27963	0.775000	0.43874	1.533000	0.36040	0.674000	0.31244	0.561000	0.74099	CGA		0.522	TRIM68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385948.1	NM_018073		A	4624492	G	A	4624492	4	1	734	1	0	0	0	0	0	1	0	0	16546	1153	40	1	972	1	TRIM68	11	4624492	Nonsense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	3370512	4624492	130382024	540	41959											
TRIM34	53840	ucsc.edu	37	11	5655127	5655127	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:5655127A>G	ENST00000514226.1	+	3	854	c.517A>G	c.(517-519)Aag>Gag	p.K173E	TRIM34_ENST00000429814.2_Missense_Mutation_p.K173E|TRIM6-TRIM34_ENST00000457787.2_Missense_Mutation_p.K173E|HBG2_ENST00000380259.2_Intron|TRIM6-TRIM34_ENST00000354852.5_Missense_Mutation_p.K527E	NM_001003827.1	NP_001003827.1	Q9BYJ4	TRI34_HUMAN	tripartite motif containing 34	173					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)		AACTTCCTGGAAGGCAAGAGG	0.473																																																0													63	65	64					11																	5655127		2201	4297	6498	SO:0001583	missense	53840			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.517A>G	11.37:g.5655127A>G	ENSP00000422947:p.Lys173Glu		D3DQS7|Q9C016|Q9HCR0|Q9HCR1|Q9HCR2	Missense_Mutation	SNP	ENST00000514226.1	37	CCDS31391.1	.	.	.	.	.	.	.	.	.	.	A	13.97	2.394975	0.42512	.	.	ENSG00000258659;ENSG00000258659;ENSG00000258659;ENSG00000258659;ENSG00000258588	ENST00000337072;ENST00000514226;ENST00000429814;ENST00000457787;ENST00000354852	T;T;T;T	0.27890	3.56;3.56;3.56;1.64	3.78	2.61	0.31194	.	0.000000	0.33610	N	0.004729	T	0.32971	0.0847	M	0.71871	2.18	0.20196	N	0.999922	P;P;B	0.39376	0.67;0.646;0.025	B;B;B	0.42319	0.351;0.383;0.023	T	0.15093	-1.0449	10	0.46703	T	0.11	.	7.0658	0.25151	0.7678:0.2322:0.0:0.0	.	173;173;527	Q9BYJ4-2;Q9BYJ4;B2RNG4	.;TRI34_HUMAN;.	E	527;173;173;173;527	ENSP00000422947:K173E;ENSP00000402595:K173E;ENSP00000395982:K173E;ENSP00000346916:K527E	ENSP00000402595:K173E	K	+	1	0	TRIM34;TRIM6-TRIM34	5611703	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.381000	0.34362	0.772000	0.33382	0.533000	0.62120	AAG		0.473	TRIM34-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143357.2	NM_001003827		G	5655127	A	G	5655127	3	3	734	1	0	0	0	0	1	0	0	0	16513	247	9	3	523	3	TRIM34	11	5655127	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	1030635	5655127	129351389	541	41960											
DNHD1	144132	broad.mit.edu;mdanderson.org;bcgsc.ca	37	11	6555328	6555328	+	Missense_Mutation	SNP	G	G	A	rs372619391		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:6555328G>A	ENST00000527990.2	+	12	2923	c.2923G>A	c.(2923-2925)Gtc>Atc	p.V975I	DNHD1_ENST00000254579.6_Missense_Mutation_p.V975I			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	975					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GCACCAGCTCGTCTCCCTAGA	0.582																																																0								G	ILE/VAL	2,1382		0,2,690	25	24	24		2923	-0.3	0	11		24	0,3182		0,0,1591	no	missense	DNHD1	NM_144666.2	29	0,2,2281	AA,AG,GG		0.0,0.1445,0.0438	benign	975/4754	6555328	2,4564	692	1591	2283	SO:0001583	missense	144132			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 47", "dynein heavy chain domain 1-like", "coiled-coil domain containing 35"	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.2923G>A	11.37:g.6555328G>A	ENSP00000436180:p.Val975Ile		Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.752282	0.00663	0.001445	0.0	ENSG00000179532	ENST00000254579;ENST00000527990	T;T	0.25085	1.82;1.82	6.17	-0.271	0.12922	.	.	.	.	.	T	0.08626	0.0214	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30416	-0.9979	9	0.37606	T	0.19	.	5.3228	0.15891	0.5461:0.1439:0.3099:0.0	.	975	Q96M86	DNHD1_HUMAN	I	975	ENSP00000254579:V975I;ENSP00000436180:V975I	ENSP00000254579:V975I	V	+	1	0	DNHD1	6511904	0.002000	0.14202	0.045000	0.18777	0.024000	0.10985	-0.061000	0.11693	-0.266000	0.09339	-0.238000	0.12139	GTC		0.582	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		A	6555328	G	A	6555328	3	1	734	1	0	0	0	0	1	0	0	0	4670	1145	40	1	2978	1	DNHD1	11	6555328	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	900201	6555328	128451188	542	41961											
TAF10	6881	broad.mit.edu;ucsc.edu;mdanderson.org	37	11	6632970	6632970	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:6632970G>A	ENST00000299424.4	-	2	789	c.312C>T	c.(310-312)aaC>aaT	p.N104N	TAF10_ENST00000531760.1_5'UTR|RP11-732A19.2_ENST00000527398.1_RNA	NM_006284.3	NP_006275.1	Q12962	TAF10_HUMAN	TAF10 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 30kDa	104					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|perinuclear region of cytoplasm (GO:0048471)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|RNA polymerase binding (GO:0070063)|transcription coactivator activity (GO:0003713)						Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.0481)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCACGTCTCCGTTGGCCGCGC	0.637																																																0													36	42	40					11																	6632970		2201	4296	6497	SO:0001819	synonymous_variant	6881			U13991, U25816	CCDS7769.1	11p15.5-p15.2	2006-11-14	2002-08-29	2001-12-07	ENSG00000166337	ENSG00000166337			11543	protein-coding gene	gene with protein product		600475	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, H, 30kD"	TAF2H, TAF2A		7923369	Standard	NM_006284		Approved	TAFII30	uc001mej.2	Q12962	OTTHUMG00000133402	ENST00000299424.4:c.312C>T	11.37:g.6632970G>A			O00703|Q13175|Q6FH13	Silent	SNP	ENST00000299424.4	37	CCDS7769.1																																																																																				0.637	TAF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257259.2	NM_006284		A	6632970	G	A	6632970	2	1	734	1	0	0	0	0	0	0	0	1	15519	1136	40	1		1	TAF10	11	6632970	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	77642	6632970	128373546	543	41962											
TPP1	1200	broad.mit.edu;bcgsc.ca	37	11	6638918	6638918	+	Missense_Mutation	SNP	C	C	T	rs201613668		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:6638918C>T	ENST00000299427.6	-	4	379	c.319G>A	c.(319-321)Gga>Aga	p.G107R	RP11-732A19.9_ENST00000545572.1_RNA|TPP1_ENST00000533371.1_5'UTR|TPP1_ENST00000534644.1_5'UTR	NM_000391.3	NP_000382.3	P49638	TTPA_HUMAN	tripeptidyl peptidase I	0	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				embryonic placenta development (GO:0001892)|intermembrane transport (GO:0046909)|intracellular pH reduction (GO:0051452)|lipid metabolic process (GO:0006629)|negative regulation of cell death (GO:0060548)|negative regulation of establishment of blood-brain barrier (GO:0090212)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|response to toxic substance (GO:0009636)|transport (GO:0006810)|vitamin E metabolic process (GO:0042360)|vitamin transport (GO:0051180)	cytosol (GO:0005829)|late endosome (GO:0005770)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)	Vitamin E(DB00163)	TTCTGGGCTCCGGCTGCCAAG	0.542																																																0													145	137	140					11																	6638918		2201	4296	6497	SO:0001583	missense	1200			AF017456	CCDS7770.1	11p15.4	2014-09-17	2004-12-09	2004-12-10	ENSG00000166340	ENSG00000166340			2073	protein-coding gene	gene with protein product	"TPP I"	607998	"ceroid-lipofuscinosis, neuronal 2, late infantile (Jansky-Bielschowsky disease)", "spinocerebellar ataxia, autosomal recessive 7"	CLN2, SCAR7		9653647, 23418007	Standard	NM_000391		Approved		uc001mel.1	O14773	OTTHUMG00000133404	ENST00000299427.6:c.319G>A	11.37:g.6638918C>T	ENSP00000299427:p.Gly107Arg		Q71V64	Missense_Mutation	SNP	ENST00000299427.6	37	CCDS7770.1	.	.	.	.	.	.	.	.	.	.	C	19.10	3.761740	0.69763	.	.	ENSG00000166340	ENST00000299427;ENST00000453338;ENST00000436873	T;T	0.80304	-1.36;-1.36	5.7	5.7	0.88788	Proteinase inhibitor, propeptide (1);Peptidase S53, propeptide (2);	0.000000	0.85682	D	0.000000	D	0.92414	0.7592	M	0.93854	3.465	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.93911	0.7197	10	0.87932	D	0	-19.7212	17.0031	0.86385	0.0:1.0:0.0:0.0	.	107;107	B4DEQ3;O14773	.;TPP1_HUMAN	R	107	ENSP00000299427:G107R;ENSP00000398136:G107R	ENSP00000299427:G107R	G	-	1	0	TPP1	6595494	1.000000	0.71417	1.000000	0.80357	0.383000	0.30230	6.487000	0.73633	2.688000	0.91661	0.655000	0.94253	GGA		0.542	TPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257261.2			T	6638918	C	T	6638918	3	4	734	1	0	0	0	0	1	0	0	0	16416	661	23	1	1412	1	TPP1	11	6638918	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	5948	6638918	128367598	544	41963											
DCHS1	8642	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	11	6650025	6650025	+	Missense_Mutation	SNP	G	G	A	rs146184962		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:6650025G>A	ENST00000299441.3	-	13	5609	c.5198C>T	c.(5197-5199)aCg>aTg	p.T1733M	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1733	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)		AGTGACATGCGTTAACTGAGG	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		24423	0.0		0.001	False		,,,				2504	0.0															0													84	74	77					11																	6650025		2201	4296	6497	SO:0001583	missense	8642			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"Cadherins / Cadherin-related"	13681	protein-coding gene	gene with protein product	"cadherin-related family member 6"	603057	"protocadherin 16", "dachsous 1 (Drosophila)"	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.5198C>T	11.37:g.6650025G>A	ENSP00000299441:p.Thr1733Met		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	CCDS7771.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	11.19	1.566660	0.28003	.	.	ENSG00000166341	ENST00000299441	T	0.01725	4.67	4.58	3.62	0.41486	Cadherin (4);Cadherin-like (1);	0.150272	0.31041	N	0.008375	T	0.04724	0.0128	L	0.58810	1.83	0.32005	N	0.602907	D	0.59767	0.986	P	0.55667	0.781	T	0.02202	-1.1196	10	0.59425	D	0.04	.	8.5943	0.33705	0.0916:0.1692:0.7392:0.0	.	1733	Q96JQ0	PCD16_HUMAN	M	1733	ENSP00000299441:T1733M	ENSP00000299441:T1733M	T	-	2	0	DCHS1	6606601	1.000000	0.71417	1.000000	0.80357	0.135000	0.20990	7.390000	0.79816	2.385000	0.81259	0.563000	0.77884	ACG		0.557	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		A	6650025	G	A	6650025	3	1	734	1	0	0	0	0	1	0	0	0	4289	1145	40	1	4734	1	DCHS1	11	6650025	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	11107	6650025	128356491	545	41964											
NLRP10	338322	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	11	7982431	7982431	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:7982431C>T	ENST00000328600.2	-	2	889	c.728G>A	c.(727-729)cGg>cAg	p.R243Q		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	243	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				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)		GAACAGGAGCCGCTCTGGCTG	0.552																																																0													42	43	43					11																	7982431		2201	4296	6497	SO:0001583	missense	338322			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.728G>A	11.37:g.7982431C>T	ENSP00000327763:p.Arg243Gln		Q2M3C4|Q6JGT0	Missense_Mutation	SNP	ENST00000328600.2	37	CCDS7784.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.192945	0.58017	.	.	ENSG00000182261	ENST00000328600	D	0.83591	-1.74	4.85	2.94	0.34122	NACHT nucleoside triphosphatase (1);	0.000000	0.35207	N	0.003364	D	0.87795	0.6267	M	0.66439	2.03	0.24750	N	0.992983	D	0.89917	1.0	D	0.85130	0.997	T	0.77940	-0.2399	10	0.59425	D	0.04	.	8.135	0.31050	0.0:0.7994:0.0:0.2006	.	243	Q86W26	NAL10_HUMAN	Q	243	ENSP00000327763:R243Q	ENSP00000327763:R243Q	R	-	2	0	NLRP10	7939007	0.002000	0.14202	0.998000	0.56505	0.447000	0.32167	1.326000	0.33735	1.207000	0.43291	-0.140000	0.14226	CGG		0.552	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821		T	7982431	C	T	7982431	3	4	734	1	0	0	0	0	1	0	0	0	10474	652	23	1	1243	1	NLRP10	11	7982431	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1332406	7982431	127024085	546	41965											
SBF2	81846	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	11	9802030	9802030	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:9802030C>T	ENST00000256190.8	-	40	5622	c.5485G>A	c.(5485-5487)Gcc>Acc	p.A1829T	SBF2-AS1_ENST00000527406.1_RNA|SBF2-AS1_ENST00000499953.2_RNA|SBF2-AS1_ENST00000525636.1_RNA|SBF2-AS1_ENST00000498905.2_RNA|SBF2-AS1_ENST00000534671.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1829	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.A1829T(1)		breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CCATCCTGGGCGCAGAAGTTA	0.488																																																1	Substitution - Missense(1)	large_intestine(1)											141	119	127					11																	9802030		2201	4294	6495	SO:0001583	missense	81846			AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins", "DENN/MADD domain containing", "Pleckstrin homology (PH) domain containing"	2135	protein-coding gene	gene with protein product	"myotubularin related 13"	607697	"Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)", "DENN/MADD domain containing 7B"	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.5485G>A	11.37:g.9802030C>T	ENSP00000256190:p.Ala1829Thr		Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Missense_Mutation	SNP	ENST00000256190.8	37	CCDS31427.1	.	.	.	.	.	.	.	.	.	.	C	36	5.743529	0.96873	.	.	ENSG00000133812	ENST00000256190	T	0.27557	1.66	5.93	5.93	0.95920	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.64605	0.2613	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68599	-0.5366	10	0.87932	D	0	.	20.3409	0.98764	0.0:1.0:0.0:0.0	.	1829	Q86WG5	MTMRD_HUMAN	T	1829	ENSP00000256190:A1829T	ENSP00000256190:A1829T	A	-	1	0	SBF2	9758606	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	5.918000	0.69996	2.814000	0.96858	0.655000	0.94253	GCC		0.488	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962		T	9802030	C	T	9802030	3	4	734	1	0	0	0	0	1	0	0	0	13865	768	27	1	68	1	SBF2	11	9802030	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1819599	9802030	125204486	547	41966											
GALNTL4	374378	broad.mit.edu;mdanderson.org	37	11	11400665	11400665	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:11400665C>T	ENST00000227756.4	-	4	1153	c.742G>A	c.(742-744)Gca>Aca	p.A248T		NM_198516.2	NP_940918.2	Q6P9A2	GLT18_HUMAN	polypeptide N-acetylgalactosaminyltransferase 18	248	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)										TCAAAGAGTGCCACCACAGGG	0.607																																																0													68	59	62					11																	11400665		2201	4294	6495	SO:0001583	missense	374378			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.742G>A	11.37:g.11400665C>T	ENSP00000227756:p.Ala248Thr		O95903|Q8NDY9	Missense_Mutation	SNP	ENST00000227756.4	37	CCDS7807.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.941178	0.73557	.	.	ENSG00000110328	ENST00000227756	T	0.61274	0.12	5.82	5.82	0.92795	Glycosyl transferase, family 2 (1);	0.066568	0.56097	D	0.000025	T	0.50292	0.1607	N	0.11284	0.12	0.80722	D	1	P	0.49447	0.924	P	0.55785	0.784	T	0.41698	-0.9494	10	0.02654	T	1	.	18.6715	0.91513	0.0:1.0:0.0:0.0	.	248	Q6P9A2	GLTL4_HUMAN	T	248	ENSP00000227756:A248T	ENSP00000227756:A248T	A	-	1	0	GALNTL4	11357241	1.000000	0.71417	0.999000	0.59377	0.863000	0.49368	7.760000	0.85248	2.762000	0.94881	0.514000	0.50259	GCA		0.607	GALNT18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385848.1	NM_198516		T	11400665	C	T	11400665	3	4	734	1	0	0	0	0	1	0	0	0	6225	739	26	2	1113	2	GALNTL4	11	11400665	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1598635	11400665	123605851	548	41967											
KCNC1	3746	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	11	17793281	17793281	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:17793281C>T	ENST00000379472.3	+	2	670	c.640C>T	c.(640-642)Cgc>Tgc	p.R214C	KCNC1_ENST00000265969.6_Missense_Mutation_p.R214C	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	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)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33					Dalfampridine(DB06637)	GACCCACGAGCGCTTCAACCC	0.567																																																0													170	137	148					11																	17793281		2200	4293	6493	SO:0001583	missense	3746			M96747	CCDS7827.1, CCDS44547.1	11p15	2012-07-05			ENSG00000129159	ENSG00000129159		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6233	protein-coding gene	gene with protein product		176258				8449507, 16382104	Standard	NM_004976		Approved	Kv3.1	uc009yhc.1	P48547	OTTHUMG00000166359	ENST00000379472.3:c.640C>T	11.37:g.17793281C>T	ENSP00000368785:p.Arg214Cys		K4DI87	Missense_Mutation	SNP	ENST00000379472.3	37	CCDS7827.1	.	.	.	.	.	.	.	.	.	.	C	19.29	3.799882	0.70567	.	.	ENSG00000129159	ENST00000265969;ENST00000379472	D;D	0.97430	-4.38;-4.38	4.7	3.75	0.43078	.	0.123303	0.48286	D	0.000188	D	0.93818	0.8023	N	0.14661	0.345	0.53688	D	0.99997	P;P	0.49358	0.923;0.896	P;B	0.48677	0.586;0.416	D	0.94079	0.7342	10	0.62326	D	0.03	.	11.9761	0.53091	0.3982:0.6018:0.0:0.0	.	214;214	Q3KNS8;P48547	.;KCNC1_HUMAN	C	214	ENSP00000265969:R214C;ENSP00000368785:R214C	ENSP00000265969:R214C	R	+	1	0	KCNC1	17749857	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.554000	0.60760	2.166000	0.68216	0.505000	0.49811	CGC		0.567	KCNC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389389.1	NM_004976		T	17793281	C	T	17793281	3	4	734	1	0	0	0	0	1	0	0	0	8016	768	27	1	646	1	KCNC1	11	17793281	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	6392616	17793281	117213235	549	41968											
SPTY2D1	144108	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	11	18636542	18636542	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:18636542G>A	ENST00000336349.5	-	3	1514	c.1279C>T	c.(1279-1281)Cgg>Tgg	p.R427W	SPTY2D1_ENST00000543776.1_5'Flank	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	427	Ser-rich.									breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						CTGACTGTCCGCCTAGAGGGA	0.582																																																0													94	89	91					11																	18636542		2199	4293	6492	SO:0001583	missense	144108			BX647798	CCDS31441.1	11p15.1	2005-10-28			ENSG00000179119	ENSG00000179119			26818	protein-coding gene	gene with protein product							Standard	NM_194285		Approved	FLJ39441, DKFZp686I068	uc001moy.3	Q68D10	OTTHUMG00000167733	ENST00000336349.5:c.1279C>T	11.37:g.18636542G>A	ENSP00000337991:p.Arg427Trp		Q6AWA5|Q6MZI5|Q7Z390|Q7Z470|Q86VG8|Q8N3E7|Q8N417|Q8N8I3	Missense_Mutation	SNP	ENST00000336349.5	37	CCDS31441.1	.	.	.	.	.	.	.	.	.	.	G	11.14	1.551665	0.27739	.	.	ENSG00000179119	ENST00000336349	T	0.32272	1.46	5.95	3.06	0.35304	.	0.651159	0.15755	N	0.246242	T	0.31451	0.0797	M	0.76328	2.33	0.09310	N	1	B	0.19817	0.039	B	0.08055	0.003	T	0.31668	-0.9935	10	0.66056	D	0.02	-0.1893	6.651	0.22961	0.1285:0.0:0.5147:0.3568	.	427	Q68D10	SPT2_HUMAN	W	427	ENSP00000337991:R427W	ENSP00000337991:R427W	R	-	1	2	SPTY2D1	18593118	0.011000	0.17503	0.043000	0.18650	0.749000	0.42624	1.693000	0.37742	0.402000	0.25451	0.563000	0.77884	CGG		0.582	SPTY2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395941.1	NM_194285		A	18636542	G	A	18636542	3	1	734	1	0	0	0	0	1	0	0	0	15131	1086	38	1	794	1	SPTY2D1	11	18636542	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	843261	18636542	116369974	550	41969											
ZDHHC13	54503	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	11	19170818	19170818	+	Silent	SNP	C	C	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:19170818C>A	ENST00000446113.2	+	5	580	c.459C>A	c.(457-459)atC>atA	p.I153I	ZDHHC13_ENST00000399351.3_Silent_p.I23I|ZDHHC13_ENST00000532812.1_3'UTR	NM_019028.2	NP_061901.2	Q8IUH4	ZDH13_HUMAN	zinc finger, DHHC-type containing 13	153					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						TCAGCAGCATCCACCTGGCAG	0.403																																																0													93	82	85					11																	19170818		1910	4113	6023	SO:0001819	synonymous_variant	54503			AB024495	CCDS44550.1, CCDS44551.1	11p15.1	2013-01-10			ENSG00000177054	ENSG00000177054		"Zinc fingers, DHHC-type", "Ankyrin repeat domain containing"	18413	protein-coding gene	gene with protein product		612815				18794299	Standard	NM_001001483		Approved	FLJ10852, FLJ10941, HIP14L	uc001mpi.3	Q8IUH4	OTTHUMG00000166099	ENST00000446113.2:c.459C>A	11.37:g.19170818C>A			Q7Z2D3|Q86VK2|Q9NV30|Q9NV99	Silent	SNP	ENST00000446113.2	37	CCDS44550.1																																																																																				0.403	ZDHHC13-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387821.1	NM_019028		A	19170818	C	A	19170818	2	1	734	1	0	0	0	0	0	0	0	1	17608	845	30	4		4	ZDHHC13	11	19170818	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	534276	19170818	115835698	551	41970											
KIF18A	81930	broad.mit.edu;mdanderson.org	37	11	28110079	28110079	+	Missense_Mutation	SNP	C	C	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:28110079C>G	ENST00000263181.6	-	6	1179	c.889G>C	c.(889-891)Gat>Cat	p.D297H		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	297	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 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						ACCTTTGAATCTGCTAAGGCA	0.328																																																0													66	60	62					11																	28110079		2202	4299	6501	SO:0001583	missense	81930			AL136819	CCDS7867.1	11p14.1	2014-06-12			ENSG00000121621	ENSG00000121621		"Kinesins"	29441	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 99"	611271				11230166	Standard	NM_031217		Approved	DKFZP434G2226, PPP1R99	uc001msc.2	Q8NI77	OTTHUMG00000166195	ENST00000263181.6:c.889G>C	11.37:g.28110079C>G	ENSP00000263181:p.Asp297His		Q4VPE3|Q86VS5|Q9H0F3	Missense_Mutation	SNP	ENST00000263181.6	37	CCDS7867.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.033272	0.35893	.	.	ENSG00000121621	ENST00000263181	T	0.75938	-0.98	5.56	3.68	0.42216	Kinesin, motor domain (3);	0.093895	0.64402	D	0.000001	D	0.86789	0.6017	M	0.89287	3.02	0.51012	D	0.9999	D	0.71674	0.998	D	0.71414	0.973	D	0.88015	0.2765	10	0.87932	D	0	.	12.4601	0.55727	0.0:0.8619:0.0:0.1381	.	297	Q8NI77	KI18A_HUMAN	H	297	ENSP00000263181:D297H	ENSP00000263181:D297H	D	-	1	0	KIF18A	28066655	1.000000	0.71417	1.000000	0.80357	0.081000	0.17604	4.062000	0.57492	0.695000	0.31675	-0.229000	0.12294	GAT		0.328	KIF18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388328.3	NM_031217		G	28110079	C	G	28110079	3	3	734	1	0	0	0	0	1	0	0	0	8282	913	32	4	1855	4	KIF18A	11	28110079	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	8939261	28110079	106896437	552	41971											
FBXO3	26273	broad.mit.edu;ucsc.edu;mdanderson.org	37	11	33770354	33770354	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:33770354G>A	ENST00000265651.3	-	9	1035	c.1017C>T	c.(1015-1017)gaC>gaT	p.D339D	FBXO3_ENST00000530401.1_Silent_p.D334D|FBXO3_ENST00000532057.1_Silent_p.D26D|FBXO3_ENST00000531080.1_Silent_p.D26D|FBXO3_ENST00000534136.1_Silent_p.D339D|FBXO3_ENST00000448981.2_Silent_p.D339D|FBXO3_ENST00000526785.1_Silent_p.D226D	NM_012175.3	NP_036307.2	Q9UK99	FBX3_HUMAN	F-box protein 3	339	ApaG. {ECO:0000255|PROSITE- ProRule:PRU00412}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		CTTCTTCCACGTCACCCTTAG	0.403																																																0													117	113	114					11																	33770354		2202	4298	6500	SO:0001819	synonymous_variant	26273			AK001943	CCDS7887.1, CCDS44566.1	11p13	2006-07-07	2004-06-15		ENSG00000110429	ENSG00000110429		"F-boxes /  "other""	13582	protein-coding gene	gene with protein product		609089	"F-box only protein 3"			10531037	Standard	NM_033406		Approved	FBX3, FBA	uc001muz.3	Q9UK99	OTTHUMG00000166244	ENST00000265651.3:c.1017C>T	11.37:g.33770354G>A			B3KY16|D3DR05|Q86X90|Q9H0V2|Q9NUX2	Silent	SNP	ENST00000265651.3	37	CCDS7887.1																																																																																				0.403	FBXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388665.1	NM_012175		A	33770354	G	A	33770354	2	1	734	1	0	0	0	0	0	0	0	1	5741	1136	40	1		1	FBXO3	11	33770354	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	5660275	33770354	101236162	553	41972											
ABTB2	25841	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	11	34192538	34192538	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:34192538C>T	ENST00000435224.2	-	5	1902	c.1478G>A	c.(1477-1479)cGc>cAc	p.R493H	ABTB2_ENST00000298992.2_Missense_Mutation_p.R307H|ABTB2_ENST00000530814.1_5'Flank	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	493					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)				GTTGAGCATGCGGAAACCCAG	0.562																																																0													109	87	95					11																	34192538		2202	4298	6500	SO:0001583	missense	25841			AK056863	CCDS7890.1, CCDS7890.2	11p13	2013-10-02			ENSG00000166016	ENSG00000166016		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	23842	protein-coding gene	gene with protein product							Standard	NM_145804		Approved	DKFZP586C1619, BTBD22, ABTB2A	uc001mvl.2	Q8N961	OTTHUMG00000044382	ENST00000435224.2:c.1478G>A	11.37:g.34192538C>T	ENSP00000410157:p.Arg493His		A8K6S9|E9PRW7|Q52LD6|Q6MZW4|Q8NB44	Missense_Mutation	SNP	ENST00000435224.2	37	CCDS7890.2	.	.	.	.	.	.	.	.	.	.	C	34	5.350737	0.95830	.	.	ENSG00000166016	ENST00000435224;ENST00000298992	T;T	0.62105	0.06;0.05	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.74974	0.3787	L	0.45698	1.435	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.77341	-0.2624	10	0.66056	D	0.02	.	18.3507	0.90337	0.0:1.0:0.0:0.0	.	307	Q8N961	ABTB2_HUMAN	H	493;307	ENSP00000410157:R493H;ENSP00000298992:R307H	ENSP00000298992:R307H	R	-	2	0	ABTB2	34149114	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.818000	0.86416	2.329000	0.79093	0.491000	0.48974	CGC		0.562	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388703.3	NM_145804		T	34192538	C	T	34192538	3	4	734	1	0	0	0	0	1	0	0	0	103	768	27	1	1651	1	ABTB2	11	34192538	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	422184	34192538	100813978	554	41973											
LRP4	4038	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	11	46911059	46911059	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:46911059G>A	ENST00000378623.1	-	16	2360	c.2118C>T	c.(2116-2118)aaC>aaT	p.N706N		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	706	EGF-like 3.				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)		TGCAGCCTCCGTTGTTGTCCC	0.587											OREG0020948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													75	72	73					11																	46911059		2201	4299	6500	SO:0001819	synonymous_variant	4038			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.2118C>T	11.37:g.46911059G>A		942	B2RN39|Q4AC85|Q5KTZ5	Silent	SNP	ENST00000378623.1	37	CCDS31478.1																																																																																				0.587	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		A	46911059	G	A	46911059	2	1	734	1	0	0	0	0	0	0	0	1	8961	1136	40	1		1	LRP4	11	46911059	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	12718521	46911059	88095457	555	41974											
GLYATL1	92292	broad.mit.edu;bcgsc.ca	37	11	58711065	58711065	+	5'UTR	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:58711065C>T	ENST00000317391.4	+	0	224				GLYATL1_ENST00000300079.5_Missense_Mutation_p.A25V|RP11-142C4.6_ENST00000533954.1_RNA	NM_001220494.1	NP_001207423.1	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1							mitochondrion (GO:0005739)	glutamine N-acyltransferase activity (GO:0047946)|glycine N-acyltransferase activity (GO:0047961)			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	tccccaggagcgcgaagtgaa	0.443																																																0													57	53	54					11																	58711065		2201	4295	6496	SO:0001623	5_prime_UTR_variant	92292			AK091965	CCDS31556.1, CCDS55768.1	11q12.1	2014-08-12			ENSG00000166840	ENSG00000166840			30519	protein-coding gene	gene with protein product		614761				12477932	Standard	NM_080661		Approved	MGC15397, FLJ34646	uc001nnh.2	Q969I3	OTTHUMG00000167221	ENST00000317391.4:c.-117C>T	11.37:g.58711065C>T			A6NDT0|Q7Z510|Q8NAW8	Missense_Mutation	SNP	ENST00000317391.4	37	CCDS55768.1	.	.	.	.	.	.	.	.	.	.	.	6.405	0.442787	0.12164	.	.	ENSG00000166840	ENST00000526351;ENST00000300079	T;T	0.52526	0.66;2.03	0.113	0.113	0.14631	.	.	.	.	.	T	0.18425	0.0442	N	0.08118	0	0.09310	N	0.999999	P	0.47841	0.901	B	0.29176	0.099	T	0.14144	-1.0483	8	0.87932	D	0	.	.	.	.	.	25	Q969I3-2	.	V	17;25	ENSP00000434652:A17V;ENSP00000300079:A25V	ENSP00000300079:A25V	A	+	2	0	GLYATL1	58467641	0.006000	0.16342	0.018000	0.16275	0.019000	0.09904	0.212000	0.17497	0.183000	0.20059	0.186000	0.17326	GCG		0.443	GLYATL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393783.1	NM_080661		T	58711065	C	T	58711065	1	4	734	0	1	0	0	0	0	0	0	0	6482	768	27	1		1	GLYATL1	11	58711065	5'UTR	SNP	C	TCGA-KN-8428-01A-11D-2310-10	11800006	58711065	76295451	556	41975											
MS4A15	219995	ucsc.edu;mdanderson.org;bcgsc.ca	37	11	60535105	60535105	+	Missense_Mutation	SNP	G	G	A	rs76307175	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:60535105G>A	ENST00000405633.3	+	3	404	c.325G>A	c.(325-327)Gtc>Atc	p.V109I	MS4A15_ENST00000337911.4_Missense_Mutation_p.V16I|MS4A15_ENST00000528170.1_Intron	NM_001098835.1	NP_001092305.1	Q8N5U1	M4A15_HUMAN	membrane-spanning 4-domains, subfamily A, member 15	109						integral component of membrane (GO:0016021)				breast(1)|large_intestine(2)|lung(3)	6						CGAGGGCGGCGTCCCCTTCTG	0.682													G|||	20	0.00399361	0.0	0.0072	5008	,	,		13559	0.001		0.0139	False		,,,				2504	0.0															0								G	ILE/VAL,ILE/VAL	6,4334		0,6,2164	30	23	25		325,46	2.8	0.9	11	dbSNP_134	25	42,8438		0,42,4198	yes	missense,missense	MS4A15	NM_001098835.1,NM_152717.2	29,29	0,48,6362	AA,AG,GG		0.4953,0.1382,0.3744	benign,benign	109/241,16/148	60535105	48,12772	2170	4240	6410	SO:0001583	missense	219995			AY584608	CCDS7991.1, CCDS44617.1, CCDS60802.1	11q12.2	2008-03-25							28573	protein-coding gene	gene with protein product							Standard	NM_001098835		Approved		uc009ynf.1	Q8N5U1		ENST00000405633.3:c.325G>A	11.37:g.60535105G>A	ENSP00000386022:p.Val109Ile		A9UJY6|A9UJY7|F2Z2J5	Missense_Mutation	SNP	ENST00000405633.3	37	CCDS44617.1	12	0.005494505494505495	0	0.0	1	0.0027624309392265192	0	0.0	11	0.014511873350923483	G	10.69	1.420060	0.25552	0.001382	0.004953	ENSG00000166961	ENST00000337911;ENST00000405633	T;T	0.02323	4.34;4.34	4.93	2.75	0.32379	.	0.320649	0.30311	N	0.009907	T	0.01092	0.0036	N	0.11106	0.095	0.29717	N	0.838982	B	0.24368	0.102	B	0.26693	0.072	T	0.38585	-0.9654	10	0.27082	T	0.32	-50.2615	3.8604	0.08993	0.1587:0.2552:0.5861:0.0	.	109	Q8N5U1	M4A15_HUMAN	I	16;109	ENSP00000338692:V16I;ENSP00000386022:V109I	ENSP00000338692:V16I	V	+	1	0	MS4A15	60291681	0.978000	0.34361	0.914000	0.36105	0.562000	0.35680	1.994000	0.40757	1.052000	0.40392	0.561000	0.74099	GTC		0.682	MS4A15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395618.1			A	60535105	G	A	60535105	3	1	734	1	0	0	0	0	1	0	0	0	9861	1145	40	1	331	1	MS4A15	11	60535105	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1824040	60535105	74471411	557	41976											
TMEM109	79073	hgsc.bcm.edu;mdanderson.org	37	11	60689599	60689599	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:60689599C>T	ENST00000227525.3	+	4	1097	c.694C>T	c.(694-696)Cga>Tga	p.R232*	RP11-881M11.4_ENST00000543907.1_RNA|TMEM132A_ENST00000005286.4_5'Flank|TMEM109_ENST00000536171.1_Nonsense_Mutation_p.R232*|TMEM132A_ENST00000453848.2_5'Flank	NM_024092.2	NP_076997.1	Q9BVC6	TM109_HUMAN	transmembrane protein 109	232					cellular response to gamma radiation (GO:0071480)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of cell death (GO:0060548)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						GCGCCAGAGGCGAGCGGCCAA	0.692																																																0																																										SO:0001587	stop_gained	79073				CCDS7996.1	11q12.2	2005-12-22				ENSG00000110108			28771	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_024092		Approved	MGC5508	uc001nqg.3	Q9BVC6		ENST00000227525.3:c.694C>T	11.37:g.60689599C>T	ENSP00000227525:p.Arg232*			Nonsense_Mutation	SNP	ENST00000227525.3	37	CCDS7996.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.307184	0.81247	.	.	ENSG00000110108	ENST00000227525;ENST00000536171	.	.	.	5.05	4.05	0.47172	.	0.000000	0.64402	D	0.000009	.	.	.	.	.	.	0.47183	D	0.999345	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-36.6751	8.9868	0.35999	0.1609:0.751:0.0:0.0881	.	.	.	.	X	232	.	ENSP00000227525:R232X	R	+	1	2	TMEM109	60446175	0.920000	0.31207	0.993000	0.49108	0.983000	0.72400	1.480000	0.35464	2.344000	0.79699	0.650000	0.86243	CGA		0.692	TMEM109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396343.1	NM_024092		T	60689599	C	T	60689599	4	4	734	1	0	0	0	0	0	1	0	0	16030	760	27	1	704	1	TMEM109	11	60689599	Nonsense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	154494	60689599	74316917	558	41977											
VPS37C	55048	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	11	60899839	60899839	+	Missense_Mutation	SNP	C	C	T	rs375223987		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:60899839C>T	ENST00000301765.5	-	5	753	c.521G>A	c.(520-522)cGt>cAt	p.R174H		NM_017966.4	NP_060436.4	A5D8V6	VP37C_HUMAN	vacuolar protein sorting 37 homolog C (S. cerevisiae)	174	Pro-rich.				endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						GGGTGGTGGACGGGGTGGAGG	0.672																																																0								C	HIS/ARG	0,4392		0,0,2196	12	15	14		521	3.7	0.1	11		14	1,8559		0,1,4279	no	missense	VPS37C	NM_017966.4	29	0,1,6475	TT,TC,CC		0.0117,0.0,0.0077	probably-damaging	174/356	60899839	1,12951	2196	4280	6476	SO:0001583	missense	55048			AK097326	CCDS31573.1	11q12.2	2008-02-05	2006-04-04			ENSG00000167987			26097	protein-coding gene	gene with protein product		610038	"vacuolar protein sorting 37C (yeast)"			15509564	Standard	XM_005274077		Approved	FLJ20847	uc001nqv.1	A5D8V6		ENST00000301765.5:c.521G>A	11.37:g.60899839C>T	ENSP00000301765:p.Arg174His		Q8N3K4	Missense_Mutation	SNP	ENST00000301765.5	37	CCDS31573.1	.	.	.	.	.	.	.	.	.	.	C	6.830	0.522243	0.13066	0.0	1.17E-4	ENSG00000167987	ENST00000301765;ENST00000540084	T	0.46451	0.87	4.71	3.67	0.42095	.	0.814749	0.11502	N	0.557626	T	0.21307	0.0513	L	0.27053	0.805	0.09310	N	1	P	0.45715	0.865	B	0.36504	0.226	T	0.04693	-1.0933	10	0.15066	T	0.55	-15.5277	2.6626	0.05031	0.0:0.4542:0.31:0.2359	.	174	A5D8V6	VP37C_HUMAN	H	174	ENSP00000301765:R174H	ENSP00000301765:R174H	R	-	2	0	VPS37C	60656415	0.000000	0.05858	0.123000	0.21794	0.470000	0.32858	0.020000	0.13466	2.165000	0.68154	0.462000	0.41574	CGT		0.672	VPS37C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396467.1	NM_017966		T	60899839	C	T	60899839	3	4	734	1	0	0	0	0	1	0	0	0	17212	536	19	1	550	1	VPS37C	11	60899839	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	210240	60899839	74106677	559	41978											
DDB1	1642	broad.mit.edu;mdanderson.org;bcgsc.ca	37	11	61081572	61081572	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:61081572C>T	ENST00000301764.7	-	14	2097	c.1700G>A	c.(1699-1701)cGt>cAt	p.R567H	DDB1_ENST00000545930.1_5'Flank|DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	567	Interaction with CDT1.|WD repeat beta-propeller B; Interaction with CUL4A.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CTTCAAGATACGAGCCGAGAT	0.507								Nucleotide excision repair (NER)																																								0													92	95	94					11																	61081572		2203	4299	6502	SO:0001583	missense	1642			AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"damage-specific DNA binding protein 1 (127kD)"			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.1700G>A	11.37:g.61081572C>T	ENSP00000301764:p.Arg567His		A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Missense_Mutation	SNP	ENST00000301764.7	37	CCDS31576.1	.	.	.	.	.	.	.	.	.	.	C	19.23	3.787793	0.70337	.	.	ENSG00000167986	ENST00000301764;ENST00000535147;ENST00000537877;ENST00000535967;ENST00000539739	T;T;T	0.52526	1.17;0.7;0.66	5.84	5.84	0.93424	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.48429	0.1499	L	0.60957	1.885	0.80722	D	1	P	0.38455	0.632	B	0.34722	0.188	T	0.50508	-0.8820	10	0.52906	T	0.07	-12.6831	20.1379	0.98040	0.0:1.0:0.0:0.0	.	567	Q16531	DDB1_HUMAN	H	567;34;131;218;286	ENSP00000301764:R567H;ENSP00000437713:R218H;ENSP00000445563:R286H	ENSP00000301764:R567H	R	-	2	0	DDB1	60838148	1.000000	0.71417	0.839000	0.33178	0.920000	0.55202	7.370000	0.79589	2.779000	0.95612	0.655000	0.94253	CGT		0.507	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923		T	61081572	C	T	61081572	3	4	734	1	0	0	0	0	1	0	0	0	4325	536	19	1	1778	1	DDB1	11	61081572	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	181733	61081572	73924944	560	41979											
DAGLA	747	hgsc.bcm.edu	37	11	61511437	61511437	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:61511437C>T	ENST00000257215.5	+	20	2721	c.2605C>T	c.(2605-2607)Cgg>Tgg	p.R869W	RP11-467L20.10_ENST00000536405.1_lincRNA	NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	869					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)		CACTCCTGAGCGGCCCCCCAG	0.731																																																0													27	36	33					11																	61511437		2165	4215	6380	SO:0001583	missense	747			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.2605C>T	11.37:g.61511437C>T	ENSP00000257215:p.Arg869Trp		A7E233|Q6WQJ0	Missense_Mutation	SNP	ENST00000257215.5	37	CCDS31578.1	.	.	.	.	.	.	.	.	.	.	C	14.01	2.408759	0.42715	.	.	ENSG00000134780	ENST00000257215	T	0.24723	1.84	3.21	2.27	0.28462	.	0.599264	0.16232	N	0.223561	T	0.15132	0.0365	N	0.14661	0.345	0.41869	D	0.990266	D	0.69078	0.997	B	0.44315	0.446	T	0.04915	-1.0918	10	0.72032	D	0.01	-24.8238	6.5939	0.22661	0.18:0.7248:0.0:0.0952	.	869	Q9Y4D2	DGLA_HUMAN	W	869	ENSP00000257215:R869W	ENSP00000257215:R869W	R	+	1	2	DAGLA	61268013	1.000000	0.71417	0.999000	0.59377	0.935000	0.57460	4.100000	0.57762	0.899000	0.36444	0.561000	0.74099	CGG		0.731	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	NM_006133		T	61511437	C	T	61511437	3	4	734	1	0	0	0	0	1	0	0	0	4228	759	27	1	2679	1	DAGLA	11	61511437	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	429865	61511437	73495079	561	41980											
INCENP	3619	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	11	61906227	61906227	+	Silent	SNP	G	G	A	rs562346092	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:61906227G>A	ENST00000394818.3	+	6	1360	c.1158G>A	c.(1156-1158)gcG>gcA	p.A386A	INCENP_ENST00000278849.4_Silent_p.A386A	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	386					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						AGCCTGTGGCGGCAGCTGAGC	0.637													G|||	2	0.000399361	0.0	0.0	5008	,	,		16788	0.0		0.0	False		,,,				2504	0.002															0													49	54	52					11																	61906227		2202	4299	6501	SO:0001819	synonymous_variant	3619			AF282265	CCDS31582.1, CCDS44624.1	11q12.3	2013-01-17	2002-08-29		ENSG00000149503	ENSG00000149503			6058	protein-coding gene	gene with protein product		604411	"inner centromere protein antigens (135kD, 155kD)"			1860899, 11453556	Standard	NM_001040694		Approved	FLJ31633	uc001nsw.1	Q9NQS7	OTTHUMG00000167470	ENST00000394818.3:c.1158G>A	11.37:g.61906227G>A			A8MQD2|Q5Y192	Silent	SNP	ENST00000394818.3	37	CCDS44624.1																																																																																				0.637	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394723.2	NM_020238		A	61906227	G	A	61906227	2	1	734	1	0	0	0	0	0	0	0	1	7735	1103	39	1		1	INCENP	11	61906227	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	394790	61906227	73100289	562	41981											
AHNAK	79026	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	11	62286931	62286931	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:62286931G>A	ENST00000378024.4	-	5	15232	c.14958C>T	c.(14956-14958)agC>agT	p.S4986S	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000525875.1_5'Flank|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4986					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)				CAGCTTTGGGGCTTTTTGCCC	0.458																																																0													85	91	89					11																	62286931		2202	4299	6501	SO:0001819	synonymous_variant	79026			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.14958C>T	11.37:g.62286931G>A			A1A586	Silent	SNP	ENST00000378024.4	37	CCDS31584.1																																																																																				0.458	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		A	62286931	G	A	62286931	2	1	734	1	0	0	0	0	0	0	0	1	414	1194	42	2		2	AHNAK	11	62286931	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	380704	62286931	72719585	563	41982											
WDR74	54663	broad.mit.edu;mdanderson.org	37	11	62601996	62601996	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:62601996G>A	ENST00000525239.1	-	8	1159	c.622C>T	c.(622-624)Cgt>Tgt	p.R208C	RP11-727F15.9_ENST00000535867.1_RNA|WDR74_ENST00000278856.4_Missense_Mutation_p.R208C|WDR74_ENST00000540620.1_5'Flank|WDR74_ENST00000529106.1_Missense_Mutation_p.R208C|WDR74_ENST00000525752.1_Missense_Mutation_p.R151C|STX5_ENST00000377897.4_5'Flank|WDR74_ENST00000311713.7_Missense_Mutation_p.R208C|STX5_ENST00000394690.1_5'Flank|STX5_ENST00000541317.1_5'Flank|RP11-727F15.9_ENST00000535817.1_RNA|STX5_ENST00000294179.3_5'Flank			Q6RFH5	WDR74_HUMAN	WD repeat domain 74	208					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						TCATAAACACGGACCTAGAGG	0.572																																																0													39	44	43					11																	62601996		2056	4210	6266	SO:0001583	missense	54663				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.622C>T	11.37:g.62601996G>A	ENSP00000432119:p.Arg208Cys		A8K8G5|Q9BRC9|Q9H6X8|Q9NVY2	Missense_Mutation	SNP	ENST00000525239.1	37	CCDS44630.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.950333	0.53186	.	.	ENSG00000133316	ENST00000311713;ENST00000529106;ENST00000525239;ENST00000278856;ENST00000525752	T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42	3.95	3.02	0.34903	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.202885	0.38837	N	0.001555	T	0.52419	0.1733	M	0.83953	2.67	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.66497	0.944;0.919;0.944	T	0.55611	-0.8114	10	0.87932	D	0	-0.5544	8.9454	0.35756	0.0:0.0:0.5992:0.4008	.	151;208;208	E9PS41;Q6RFH5;Q6RFH5-2	.;WDR74_HUMAN;.	C	208;208;208;208;151	ENSP00000308931:R208C;ENSP00000435726:R208C;ENSP00000432119:R208C;ENSP00000278856:R208C;ENSP00000432113:R151C	ENSP00000278856:R208C	R	-	1	0	WDR74	62358572	1.000000	0.71417	1.000000	0.80357	0.736000	0.42039	3.834000	0.55798	0.835000	0.34877	0.313000	0.20887	CGT		0.572	WDR74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395678.1	NM_018093		A	62601996	G	A	62601996	3	1	734	1	0	0	0	0	1	0	0	0	17329	1116	39	1	555	1	WDR74	11	62601996	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	315065	62601996	72404520	564	41983											
CCDC88B	283234	broad.mit.edu	37	11	64120286	64120286	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:64120286C>T	ENST00000356786.5	+	20	3471	c.3427C>T	c.(3427-3429)Cgc>Tgc	p.R1143C	CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000359902.2_Missense_Mutation_p.R295C	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	1143						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						AGAGCGTGAACGCCTGATGCA	0.682																																																0													24	28	26					11																	64120286		2199	4295	6494	SO:0001583	missense	283234			AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"brain leucine zipper protein", "GRP78-interacting protein induced by ER stress"	611205	"coiled-coil domain containing 88"	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.3427C>T	11.37:g.64120286C>T	ENSP00000349238:p.Arg1143Cys		A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Missense_Mutation	SNP	ENST00000356786.5	37	CCDS8072.2	.	.	.	.	.	.	.	.	.	.	c	18.03	3.532071	0.64972	.	.	ENSG00000168071	ENST00000377638;ENST00000356786;ENST00000359902	T;T	0.47869	1.82;0.83	3.95	2.94	0.34122	.	.	.	.	.	T	0.58278	0.2111	L	0.54323	1.7	0.46701	D	0.999169	D;D;D	0.89917	1.0;1.0;1.0	P;D;P	0.72625	0.869;0.978;0.869	T	0.58781	-0.7576	9	0.59425	D	0.04	.	8.2175	0.31521	0.2379:0.7621:0.0:0.0	.	1143;279;1143	B2RTU8;A6NC98-5;A6NC98	.;.;CC88B_HUMAN	C	1025;1143;295	ENSP00000349238:R1143C;ENSP00000352974:R295C	ENSP00000349238:R1143C	R	+	1	0	CCDC88B	63876862	1.000000	0.71417	0.940000	0.37924	0.920000	0.55202	0.994000	0.29693	2.196000	0.70406	0.462000	0.41574	CGC		0.682	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251		T	64120286	C	T	64120286	3	4	734	1	0	0	0	0	1	0	0	0	2866	536	19	1	3505	1	CCDC88B	11	64120286	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1518290	64120286	70886230	565	41984											
ATG2A	23130	broad.mit.edu;bcgsc.ca	37	11	64665396	64665396	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:64665396C>T	ENST00000377264.3	-	35	5021	c.4909G>A	c.(4909-4911)Gaa>Aaa	p.E1637K	ATG2A_ENST00000421419.2_Missense_Mutation_p.E1639K	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1637					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						TCTACGCCTTCGGCCTGCCCT	0.667																																																0													32	38	36					11																	64665396		2200	4296	6496	SO:0001583	missense	23130				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.4909G>A	11.37:g.64665396C>T	ENSP00000366475:p.Glu1637Lys		O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	ENST00000377264.3	37	CCDS31602.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.23|10.23	1.293510|1.293510	0.23564|0.23564	.|.	.|.	ENSG00000110046|ENSG00000110046	ENST00000421419;ENST00000377264|ENST00000418259	T;T|.	0.06608|.	3.28;3.28|.	4.38|4.38	0.0643|0.0643	0.14352|0.14352	.|.	0.464888|.	0.21212|.	N|.	0.078283|.	T|T	0.40145|0.40145	0.1105|0.1105	L|L	0.61387|0.61387	1.9|1.9	0.09310|0.09310	N|N	1|1	B;B|.	0.26577|.	0.095;0.153|.	B;B|.	0.20184|.	0.013;0.028|.	T|T	0.35201|0.35201	-0.9798|-0.9798	10|5	0.10636|.	T|.	0.68|.	.|.	3.6629|3.6629	0.08245|0.08245	0.0:0.4688:0.188:0.3431|0.0:0.4688:0.188:0.3431	.|.	1637;1639|.	Q2TAZ0;Q2TAZ0-3|.	ATG2A_HUMAN;.|.	K|Q	1639;1637|1440	ENSP00000410522:E1639K;ENSP00000366475:E1637K|.	ENSP00000366475:E1637K|.	E|R	-|-	1|2	0|0	ATG2A|ATG2A	64421972|64421972	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.005000|0.005000	0.04900|0.04900	0.353000|0.353000	0.20130|0.20130	-0.066000|-0.066000	0.12998|0.12998	0.561000|0.561000	0.74099|0.74099	GAA|CGA		0.667	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		T	64665396	C	T	64665396	3	4	734	1	0	0	0	0	1	0	0	0	1093	893	31	1	935	1	ATG2A	11	64665396	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	545110	64665396	70341120	566	41985											
TSGA10IP	254187	broad.mit.edu;ucsc.edu;mdanderson.org	37	11	65721060	65721060	+	RNA	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:65721060C>T	ENST00000532620.1	+	0	1405				TSGA10IP_ENST00000608857.1_RNA			Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein									p.R362R(1)		endometrium(2)|kidney(3)|lung(9)	14						GGCCTGGGAGCGGCAGCGGCA	0.697																																																1	Substitution - coding silent(1)	lung(1)											40	46	44					11																	65721060		1619	3582	5201			254187			AK057442	CCDS66138.1	11q13.1	2014-03-25			ENSG00000175513	ENSG00000175513			26555	protein-coding gene	gene with protein product						14702039	Standard	NM_152762		Approved	FLJ32880, FAM161C	uc001ogk.1	Q3SY00	OTTHUMG00000166753		11.37:g.65721060C>T			Q3SXZ9|Q3SY01|Q96M26	Missense_Mutation	SNP	ENST00000532620.1	37																																																																																					0.697	TSGA10IP-001	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000391373.2	NM_152762		T	65721060	C	T	65721060	1	4	734	0	1	0	0	0	0	0	0	0	16623	759	27	1		1	TSGA10IP	11	65721060	RNA	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1055664	65721060	69285456	567	41986											
SART1	9092	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	11	65744159	65744159	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:65744159C>T	ENST00000312397.5	+	14	1871	c.1779C>T	c.(1777-1779)aaC>aaT	p.N593N		NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T cells	593					cell cycle arrest (GO:0007050)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|spliceosomal snRNP assembly (GO:0000387)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GCTCAGCCAACGGTGGCTCCG	0.672																																																0													31	29	30					11																	65744159		2201	4296	6497	SO:0001819	synonymous_variant	9092			AB006198	CCDS31611.1	11q13.1	2009-01-06	2006-12-07		ENSG00000175467	ENSG00000175467			10538	protein-coding gene	gene with protein product	"small nuclear ribonucleoprotein 110kDa (U4/U6.U5)"	605941	"squamous cell carcinoma antigen recognised by T cells"			9449708	Standard	NM_005146		Approved	Ara1, Snu66, SNRNP110	uc001ogl.3	O43290	OTTHUMG00000166771	ENST00000312397.5:c.1779C>T	11.37:g.65744159C>T			A6NDN1|Q53GB5	Silent	SNP	ENST00000312397.5	37	CCDS31611.1																																																																																				0.672	SART1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391409.1			T	65744159	C	T	65744159	2	4	734	1	0	0	0	0	0	0	0	1	13852	535	19	1		1	SART1	11	65744159	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	23099	65744159	69262357	568	41987											
PACS1	55690	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	11	65978707	65978707	+	Missense_Mutation	SNP	G	G	A	rs142653069	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:65978707G>A	ENST00000320580.4	+	4	670	c.637G>A	c.(637-639)Gtg>Atg	p.V213M		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	213				Missing (in Ref. 2; BAC04831). {ECO:0000305}.	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						GACCTTGGCCGTGGGACTCAT	0.527																																																0								G	MET/VAL	0,4402		0,0,2201	155	126	136		637	4.2	1	11	dbSNP_134	136	4,8586	3.7+/-12.6	0,4,4291	yes	missense	PACS1	NM_018026.2	21	0,4,6492	AA,AG,GG		0.0466,0.0,0.0308	benign	213/964	65978707	4,12988	2201	4295	6496	SO:0001583	missense	55690			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.637G>A	11.37:g.65978707G>A	ENSP00000316454:p.Val213Met		Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Missense_Mutation	SNP	ENST00000320580.4	37	CCDS8129.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.656829	0.47467	0.0	4.66E-4	ENSG00000175115	ENST00000320580;ENST00000527380	T	0.26810	1.71	5.09	4.16	0.48862	.	0.345518	0.30959	N	0.008532	T	0.27559	0.0677	M	0.78637	2.42	0.80722	D	1	B;B	0.32893	0.066;0.389	B;B	0.19148	0.007;0.024	T	0.16541	-1.0399	10	0.51188	T	0.08	-20.3959	12.9718	0.58517	0.0817:0.0:0.9183:0.0	.	213;213	Q6VY07;Q6VY07-2	PACS1_HUMAN;.	M	213;115	ENSP00000316454:V213M	ENSP00000316454:V213M	V	+	1	0	PACS1	65735283	0.856000	0.29760	0.999000	0.59377	0.853000	0.48598	1.113000	0.31184	2.659000	0.90383	0.313000	0.20887	GTG		0.527	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391690.2	NM_018026		A	65978707	G	A	65978707	3	1	734	1	0	0	0	0	1	0	0	0	11374	1145	40	1	651	1	PACS1	11	65978707	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	234548	65978707	69027809	569	41988											
RAB1B	81876	broad.mit.edu;hgsc.bcm.edu	37	11	66039636	66039636	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:66039636G>A	ENST00000311481.6	+	3	243	c.96G>A	c.(94-96)acG>acA	p.T32T	RP11-867G23.3_ENST00000501708.1_lincRNA|RAB1B_ENST00000527397.1_Silent_p.T32T	NM_030981.2	NP_112243.1	Q9H0U4	RAB1B_HUMAN	RAB1B, member RAS oncogene family	32					ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of glycoprotein metabolic process (GO:1903020)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|virion assembly (GO:0019068)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)			large_intestine(2)|lung(1)|ovary(1)|prostate(1)	5						AGGATGACACGTACACAGAGA	0.532																																																0													213	205	208					11																	66039636		2200	4295	6495	SO:0001819	synonymous_variant	81876			AJ245875	CCDS31613.1	11q13.1	2008-02-05			ENSG00000174903	ENSG00000174903		"RAB, member RAS oncogene"	18370	protein-coding gene	gene with protein product		612565				9030196	Standard	NM_030981		Approved		uc001ohf.3	Q9H0U4	OTTHUMG00000166916	ENST00000311481.6:c.96G>A	11.37:g.66039636G>A			A8K7S1	Silent	SNP	ENST00000311481.6	37	CCDS31613.1																																																																																				0.532	RAB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391886.2	NM_030981		A	66039636	G	A	66039636	2	1	734	1	0	0	0	0	0	0	0	1	12912	1132	40	1		1	RAB1B	11	66039636	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	60929	66039636	68966880	570	41989											
RIN1	9610	broad.mit.edu;mdanderson.org	37	11	66101541	66101541	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:66101541G>A	ENST00000311320.4	-	7	1566	c.1440C>T	c.(1438-1440)ttC>ttT	p.F480F	RIN1_ENST00000424433.2_Silent_p.F375F|RIN1_ENST00000524804.1_5'Flank|RP11-867G23.12_ENST00000526655.1_RNA|RIN1_ENST00000530056.1_Intron	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	480	Ras and 14-3-3 protein binding region.|VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				associative learning (GO:0008306)|endocytosis (GO:0006897)|memory (GO:0007613)|negative regulation of synaptic plasticity (GO:0031914)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						GGTGGGACCCGAAGGCTCCGG	0.731																																																0													7	7	7					11																	66101541		2115	4173	6288	SO:0001819	synonymous_variant	9610			L36463	CCDS31614.1	11q13.2	2005-09-18				ENSG00000174791			18749	protein-coding gene	gene with protein product		605965				9144171, 1849280	Standard	NM_004292		Approved		uc001ohn.1	Q13671		ENST00000311320.4:c.1440C>T	11.37:g.66101541G>A			O15010|Q00427|Q96CC8	Silent	SNP	ENST00000311320.4	37	CCDS31614.1																																																																																				0.731	RIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392980.2	NM_004292		A	66101541	G	A	66101541	2	1	734	1	0	0	0	0	0	0	0	1	13377	1049	37	1		1	RIN1	11	66101541	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	61905	66101541	68904975	571	41990											
PITPNM1	9600	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	11	67261522	67261522	+	Missense_Mutation	SNP	G	G	A	rs371845321		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:67261522G>A	ENST00000534749.1	-	19	3067	c.2879C>T	c.(2878-2880)aCg>aTg	p.T960M	PITPNM1_ENST00000436757.2_Missense_Mutation_p.T959M|PITPNM1_ENST00000526450.1_5'UTR|PITPNM1_ENST00000356404.3_Missense_Mutation_p.T960M			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	960					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						CAGCGGCTGCGTCATGATGTA	0.652																																					GBM(28;144 709 4607 5525)											0								G	MET/THR,MET/THR	0,4398		0,0,2199	41	44	43		2876,2879	4.2	1	11		43	1,8589	1.2+/-3.3	0,1,4294	no	missense,missense	PITPNM1	NM_001130848.1,NM_004910.2	81,81	0,1,6493	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	959/1244,960/1245	67261522	1,12987	2199	4295	6494	SO:0001583	missense	9600			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.2879C>T	11.37:g.67261522G>A	ENSP00000437286:p.Thr960Met		A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Missense_Mutation	SNP	ENST00000534749.1	37	CCDS31620.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.322959	0.81580	0.0	1.16E-4	ENSG00000110697	ENST00000534749;ENST00000436757;ENST00000356404	T;T;T	0.49432	0.78;0.78;0.78	4.21	4.21	0.49690	.	0.000000	0.47852	D	0.000205	T	0.49201	0.1543	L	0.41492	1.28	0.58432	D	0.999999	P;D	0.60160	0.905;0.987	B;P	0.50754	0.305;0.649	T	0.52449	-0.8574	10	0.49607	T	0.09	-25.7326	15.5133	0.75802	0.0:0.0:1.0:0.0	.	959;960	O00562-2;O00562	.;PITM1_HUMAN	M	960;959;960	ENSP00000437286:T960M;ENSP00000398787:T959M;ENSP00000348772:T960M	ENSP00000348772:T960M	T	-	2	0	PITPNM1	67018098	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.624000	0.74243	2.071000	0.62044	0.305000	0.20034	ACG		0.652	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395520.1	NM_004910		A	67261522	G	A	67261522	3	1	734	1	0	0	0	0	1	0	0	0	11952	1145	40	1	875	1	PITPNM1	11	67261522	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1159981	67261522	67744994	572	41991											
SUV420H1	51111	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	11	67925896	67925896	+	Silent	SNP	G	G	A	rs149239650		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:67925896G>A	ENST00000304363.4	-	11	2270	c.1917C>T	c.(1915-1917)gaC>gaT	p.D639D		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	639					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						GTACCGCGTCGTCTTTTCCAG	0.507													G|||	1	0.000199681	0.0	0.0014	5008	,	,		21360	0.0		0.0	False		,,,				2504	0.0															0								G		1,4399	2.1+/-5.4	0,1,2199	92	83	86		1917	-6.6	0	11	dbSNP_134	86	2,8586	2.2+/-6.3	0,2,4292	no	coding-synonymous	SUV420H1	NM_017635.3		0,3,6491	AA,AG,GG		0.0233,0.0227,0.0231		639/886	67925896	3,12985	2200	4294	6494	SO:0001819	synonymous_variant	51111			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.1917C>T	11.37:g.67925896G>A			B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Silent	SNP	ENST00000304363.4	37	CCDS31623.1																																																																																				0.507	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	NM_017635		A	67925896	G	A	67925896	2	1	734	1	0	0	0	0	0	0	0	1	15419	1136	40	1		1	SUV420H1	11	67925896	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	664374	67925896	67080620	573	41992											
CPT1A	1374	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	11	68530138	68530138	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:68530138T>C	ENST00000265641.5	-	15	1986	c.1832A>G	c.(1831-1833)gAg>gGg	p.E611G	CPT1A_ENST00000539743.1_Missense_Mutation_p.E611G|CPT1A_ENST00000537756.2_5'UTR|CPT1A_ENST00000376618.2_Missense_Mutation_p.E611G|CPT1A_ENST00000540367.1_Missense_Mutation_p.E611G	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	611					carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	GTCGCATGACTCAGTGGTGCA	0.597																																																0													78	68	71					11																	68530138		2200	4294	6494	SO:0001583	missense	1374			L39211	CCDS8185.1, CCDS31624.1	11q13.2	2007-07-26				ENSG00000110090	2.3.1.21		2328	protein-coding gene	gene with protein product		600528		CPT1		7892212, 9070950	Standard	NM_001876		Approved	CPT1-L, L-CPT1	uc001oog.4	P50416		ENST00000265641.5:c.1832A>G	11.37:g.68530138T>C	ENSP00000265641:p.Glu611Gly		Q8TCU0|Q9BWK0	Missense_Mutation	SNP	ENST00000265641.5	37	CCDS8185.1	.	.	.	.	.	.	.	.	.	.	T	15.71	2.912559	0.52439	.	.	ENSG00000110090	ENST00000540367;ENST00000376618;ENST00000265641;ENST00000538308;ENST00000539743	D;D;D;D	0.90732	-2.72;-2.72;-2.72;-2.72	5.57	5.57	0.84162	.	0.051436	0.85682	D	0.000000	D	0.95341	0.8488	H	0.97983	4.12	0.80722	D	1	B;B	0.29671	0.254;0.214	B;B	0.37346	0.247;0.238	D	0.95305	0.8407	10	0.87932	D	0	.	16.0252	0.80538	0.0:0.0:0.0:1.0	.	611;611	P50416;P50416-2	CPT1A_HUMAN;.	G	611	ENSP00000439084:E611G;ENSP00000365803:E611G;ENSP00000265641:E611G;ENSP00000446108:E611G	ENSP00000265641:E611G	E	-	2	0	CPT1A	68286714	1.000000	0.71417	0.997000	0.53966	0.041000	0.13682	7.562000	0.82300	2.246000	0.74042	0.533000	0.62120	GAG		0.597	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397457.2	NM_001876		C	68530138	T	C	68530138	3	2	734	1	0	0	0	0	1	0	0	0	3833	1551	54	3	549	3	CPT1A	11	68530138	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	604242	68530138	66476378	574	41993											
ARAP1	116985	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	11	72404807	72404807	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:72404807G>A	ENST00000393609.3	-	28	3940	c.3738C>T	c.(3736-3738)caC>caT	p.H1246H	ARAP1_ENST00000359373.5_Silent_p.H1246H|ARAP1_ENST00000455638.2_Silent_p.H1246H|ARAP1_ENST00000426523.1_Silent_p.H1001H|ARAP1_ENST00000429686.1_Silent_p.H940H|ARAP1_ENST00000393605.3_Silent_p.H1006H|ARAP1-AS1_ENST00000542022.1_RNA|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000334211.8_Silent_p.H1001H	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	1246	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				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						TGCCCAGCCCGTGCAGGATGG	0.652																																					Ovarian(102;1198 1520 13195 17913 37529)											0													53	39	44					11																	72404807		2200	4292	6492	SO:0001819	synonymous_variant	116985			AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16925	protein-coding gene	gene with protein product		606646	"centaurin, delta 2"	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.3738C>T	11.37:g.72404807G>A			A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Silent	SNP	ENST00000393609.3	37	CCDS41687.1																																																																																				0.652	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1	NM_001040118		A	72404807	G	A	72404807	2	1	734	1	0	0	0	0	0	0	0	1	838	1136	40	1		1	ARAP1	11	72404807	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	3874669	72404807	62601709	575	41994											
UCP2	7351	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	11	73689005	73689005	+	Missense_Mutation	SNP	C	C	T	rs145061662		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:73689005C>T	ENST00000310473.3	-	4	1105	c.263G>A	c.(262-264)cGc>cAc	p.R88H	UCP2_ENST00000536983.1_Missense_Mutation_p.R88H|UCP2_ENST00000542615.1_5'Flank	NM_003355.2	NP_003346.2	P55851	UCP2_HUMAN	uncoupling protein 2 (mitochondrial, proton carrier)	88					aging (GO:0007568)|cellular metabolic process (GO:0044237)|cellular response to amino acid starvation (GO:0034198)|cellular response to glucose stimulus (GO:0071333)|cellular response to insulin stimulus (GO:0032869)|female pregnancy (GO:0007565)|liver regeneration (GO:0097421)|mitochondrial transport (GO:0006839)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|positive regulation of cell death (GO:0010942)|proton transport (GO:0015992)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to superoxide (GO:0000303)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				large_intestine(1)|lung(3)|prostate(1)	5	Breast(11;0.000112)					GCTCATTTGGCGCTGCAGGCC	0.597																																					Colon(191;388 2040 43557 45622 48925)											0								C	HIS/ARG	0,4400		0,0,2200	70	69	69		263	5.2	1	11	dbSNP_134	69	2,8584	2.2+/-6.3	0,2,4291	yes	missense	UCP2	NM_003355.2	29	0,2,6491	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	88/310	73689005	2,12984	2200	4293	6493	SO:0001583	missense	7351			U76367	CCDS8228.1	11q13	2014-02-12						"Solute carriers"	12518	protein-coding gene	gene with protein product		601693	"body mass index QTL 4", "body mass index quantitative trait 4"	BMIQ4		9196039, 11381268	Standard	NM_003355		Approved	SLC25A8	uc001oup.1	P55851		ENST00000310473.3:c.263G>A	11.37:g.73689005C>T	ENSP00000312029:p.Arg88His		Q4PJH8|Q53HM3	Missense_Mutation	SNP	ENST00000310473.3	37	CCDS8228.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.035217	0.93575	0.0	2.33E-4	ENSG00000175567	ENST00000310473;ENST00000536983;ENST00000544615	D;D;D	0.81659	-1.52;-1.52;-1.52	6.07	5.15	0.70609	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.93933	0.8058	H	0.98351	4.21	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.96356	0.9262	10	0.87932	D	0	-7.1629	16.1962	0.82025	0.0:0.8667:0.1333:0.0	.	88;88	F5GX45;P55851	.;UCP2_HUMAN	H	88;88;61	ENSP00000312029:R88H;ENSP00000441147:R88H;ENSP00000439951:R61H	ENSP00000312029:R88H	R	-	2	0	UCP2	73366653	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.776000	0.85560	1.562000	0.49601	0.655000	0.94253	CGC		0.597	UCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398108.1	NM_003355		T	73689005	C	T	73689005	3	4	734	1	0	0	0	0	1	0	0	0	16936	768	27	1	686	1	UCP2	11	73689005	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1284198	73689005	61317511	576	41995											
P4HA3	283208	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	11	73988139	73988139	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:73988139C>T	ENST00000331597.4	-	9	1271	c.1226G>A	c.(1225-1227)cGc>cAc	p.R409H	P4HA3_ENST00000427714.2_Missense_Mutation_p.R409H	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha polypeptide III	409						endoplasmic reticulum (GO:0005783)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					GGCAGCAATGCGGTGGTTGAG	0.522																																																0													194	148	163					11																	73988139		2200	4293	6493	SO:0001583	missense	283208			AY327887	CCDS8230.1, CCDS73347.1	11q13	2008-12-09	2008-12-09			ENSG00000149380			30135	protein-coding gene	gene with protein product	"collagen prolyl 4-hydroxylase alpha(III)"	608987	"procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide III"			14500733	Standard	XM_005273924		Approved	C-P4Halpha(III)	uc001ouz.3	Q7Z4N8		ENST00000331597.4:c.1226G>A	11.37:g.73988139C>T	ENSP00000332170:p.Arg409His		A0AV13|B4DUD3|Q5EBL3|Q5JPA9	Missense_Mutation	SNP	ENST00000331597.4	37	CCDS8230.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.352642	0.82132	.	.	ENSG00000149380	ENST00000331597;ENST00000427714	T;T	0.70869	0.98;-0.52	5.2	5.2	0.72013	Prolyl 4-hydroxylase, alpha subunit (1);	0.097922	0.64402	D	0.000002	D	0.85944	0.5815	M	0.88906	2.99	0.43693	D	0.996141	D;D	0.89917	1.0;0.995	D;P	0.68621	0.959;0.679	D	0.88404	0.3017	10	0.87932	D	0	-16.3221	16.28	0.82672	0.0:1.0:0.0:0.0	.	409;409	B4DUD3;Q7Z4N8	.;P4HA3_HUMAN	H	409	ENSP00000332170:R409H;ENSP00000401749:R409H	ENSP00000332170:R409H	R	-	2	0	P4HA3	73665787	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.902000	0.56310	2.691000	0.91804	0.655000	0.94253	CGC		0.522	P4HA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382988.1	NM_182904		T	73988139	C	T	73988139	3	4	734	1	0	0	0	0	1	0	0	0	11360	768	27	1	428	1	P4HA3	11	73988139	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	299134	73988139	61018377	577	41996											
ARRB1	408	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	11	74988453	74988453	+	Missense_Mutation	SNP	C	C	T	rs370469526		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:74988453C>T	ENST00000420843.2	-	9	755	c.658G>A	c.(658-660)Gtc>Atc	p.V220I	ARRB1_ENST00000360025.3_Missense_Mutation_p.V220I|ARRB1_ENST00000393505.4_Missense_Mutation_p.V220I	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1	220					activation of MAPK activity (GO:0000187)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of GTPase activity (GO:0034260)|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 protein phosphorylation (GO:0001933)|negative regulation of protein ubiquitination (GO:0031397)|Notch signaling pathway (GO:0007219)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of GTPase activity (GO:0043547)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H4 acetylation (GO:0090240)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-Golgi vesicle-mediated transport (GO:0006892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)|transcription from RNA polymerase II promoter (GO:0006366)	basolateral plasma membrane (GO:0016323)|chromatin (GO:0000785)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|pseudopodium (GO:0031143)	angiotensin receptor binding (GO:0031701)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|enzyme inhibitor activity (GO:0004857)|GTPase activator activity (GO:0005096)|insulin-like growth factor receptor binding (GO:0005159)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						TTGTTGGTGACGTGGACGTTG	0.547													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19587	0.0		0.0	False		,,,				2504	0.0															0								C	ILE/VAL,ILE/VAL	0,4400		0,0,2200	333	267	290		658,658	5.1	1	11		290	1,8585	1.2+/-3.3	0,1,4292	no	missense,missense	ARRB1	NM_004041.4,NM_020251.3	29,29	0,1,6492	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	220/419,220/411	74988453	1,12985	2200	4293	6493	SO:0001583	missense	408			BC003636	CCDS31640.1, CCDS44684.1	11q13	2008-12-11			ENSG00000137486	ENSG00000137486			711	protein-coding gene	gene with protein product	"arrestin 2"	107940		ARR1		8486659	Standard	NM_004041		Approved		uc001owe.2	P49407	OTTHUMG00000165444	ENST00000420843.2:c.658G>A	11.37:g.74988453C>T	ENSP00000409581:p.Val220Ile		B6V9G8|O75625|O75630|Q2PP20|Q9BTK8	Missense_Mutation	SNP	ENST00000420843.2	37	CCDS44684.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.98|10.98	1.504591|1.504591	0.26949|0.26949	0.0|0.0	1.16E-4|1.16E-4	ENSG00000137486|ENSG00000137486	ENST00000532447|ENST00000420843;ENST00000393505;ENST00000360025;ENST00000532525	.|T;T;T;T	.|0.14516	.|2.5;2.5;2.5;2.5	5.14|5.14	5.14|5.14	0.70334|0.70334	.|Immunoglobulin E-set (1);Arrestin, C-terminal (1);Arrestin-like, C-terminal (1);	.|0.000000	.|0.64402	.|D	.|0.000003	T|T	0.07954|0.07954	0.0199|0.0199	N|N	0.17594|0.17594	0.5|0.5	0.80722|0.80722	D|D	1|1	.|B;B	.|0.33266	.|0.029;0.404	.|B;B	.|0.26864	.|0.024;0.074	T|T	0.23583|0.23583	-1.0184|-1.0184	5|10	.|0.08837	.|T	.|0.75	-24.7659|-24.7659	16.0992|16.0992	0.81158|0.81158	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|220;220	.|P49407-2;P49407	.|.;ARRB1_HUMAN	H|I	44|220;220;220;215	.|ENSP00000409581:V220I;ENSP00000377141:V220I;ENSP00000353124:V220I;ENSP00000433171:V215I	.|ENSP00000353124:V220I	R|V	-|-	2|1	0|0	ARRB1|ARRB1	74666101|74666101	0.987000|0.987000	0.35691|0.35691	0.984000|0.984000	0.44739|0.44739	0.963000|0.963000	0.63663|0.63663	2.756000|2.756000	0.47549|0.47549	2.371000|2.371000	0.80710|0.80710	0.561000|0.561000	0.74099|0.74099	CGT|GTC		0.547	ARRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384092.3	NM_004041		T	74988453	C	T	74988453	3	4	734	1	0	0	0	0	1	0	0	0	980	536	19	1	630	1	ARRB1	11	74988453	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1000314	74988453	60018063	578	41997											
TSKU	25987	broad.mit.edu;mdanderson.org	37	11	76506753	76506753	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:76506753C>T	ENST00000527881.1	+	2	1119	c.93C>T	c.(91-93)ttC>ttT	p.F31F	TSKU_ENST00000333090.4_Silent_p.F31F			Q8WUA8	TSK_HUMAN	tsukushi, small leucine rich proteoglycan	31	LRRNT.				anterior commissure morphogenesis (GO:0021960)|ciliary body morphogenesis (GO:0061073)|corpus callosum morphogenesis (GO:0021540)|lateral ventricle development (GO:0021670)|negative regulation of Wnt signaling pathway (GO:0030178)|regulation of gene expression (GO:0010468)	extracellular space (GO:0005615)				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					TGGAGACCTTCGGCCTTTTCG	0.672																																																0													67	62	64					11																	76506753		2200	4292	6492	SO:0001819	synonymous_variant	25987			AK075476	CCDS8246.1	11q13.5	2012-12-05	2012-12-05	2006-11-21	ENSG00000182704	ENSG00000182704			28850	protein-coding gene	gene with protein product		608015	"leucine rich repeat containing 54", "tsukushin", "tsukushi small leucine rich proteoglycan homolog (Xenopus laevis)"	LRRC54		11085516, 19710929, 22880013	Standard	NM_001258210		Approved	E2IG4, TSK	uc031qcw.1	Q8WUA8		ENST00000527881.1:c.93C>T	11.37:g.76506753C>T			B3KQT7|Q6UXK1|Q9UG10|Q9UJX9	Silent	SNP	ENST00000527881.1	37	CCDS8246.1																																																																																				0.672	TSKU-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382871.1	NM_015516		T	76506753	C	T	76506753	2	4	734	1	0	0	0	0	0	0	0	1	16632	883	31	1		1	TSKU	11	76506753	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1518300	76506753	58499763	579	41998											
CHORDC1	26973	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	11	89935620	89935620	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:89935620G>T	ENST00000320585.6	-	11	1361	c.952C>A	c.(952-954)Cct>Act	p.P318T	CHORDC1_ENST00000529726.1_Missense_Mutation_p.P130T|CHORDC1_ENST00000457199.2_Missense_Mutation_p.P299T|CHORDC1_ENST00000529987.1_Missense_Mutation_p.P130T	NM_012124.2	NP_036256.2	Q9UHD1	CHRD1_HUMAN	cysteine and histidine-rich domain (CHORD) containing 1	318					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)				TTAGCTGCAGGCAGTTCAAGG	0.393																																																0													103	88	93					11																	89935620		2200	4298	6498	SO:0001583	missense	26973			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.952C>A	11.37:g.89935620G>T	ENSP00000319255:p.Pro318Thr		B2R6P8|Q6IN49|Q8WVL9|Q9H3D6	Missense_Mutation	SNP	ENST00000320585.6	37	CCDS8289.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.486590	0.84854	.	.	ENSG00000110172	ENST00000320585;ENST00000529987;ENST00000457199;ENST00000529726	T;T;T;T	0.43294	0.96;0.99;0.95;0.99	5.43	5.43	0.79202	HSP20-like chaperone (1);	0.000000	0.85682	D	0.000000	T	0.53997	0.1831	L	0.35542	1.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.978	T	0.48007	-0.9072	9	.	.	.	-0.1676	17.486	0.87688	0.0:0.0:1.0:0.0	.	299;318	Q9UHD1-2;Q9UHD1	.;CHRD1_HUMAN	T	318;130;299;130	ENSP00000319255:P318T;ENSP00000433719:P130T;ENSP00000401080:P299T;ENSP00000436632:P130T	.	P	-	1	0	CHORDC1	89575268	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	8.594000	0.90836	2.539000	0.85634	0.650000	0.86243	CCT		0.393	CHORDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394111.1	NM_012124		T	89935620	G	T	89935620	3	4	734	1	0	0	0	0	1	0	0	0	3367	1203	42	4	50	4	CHORDC1	11	89935620	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	13428867	89935620	45070896	580	41999											
FAT3	120114	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	11	92086239	92086239	+	Silent	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:92086239T>C	ENST00000298047.6	+	1	978	c.961T>C	c.(961-963)Ttg>Ctg	p.L321L	FAT3_ENST00000409404.2_Silent_p.L321L|FAT3_ENST00000541502.1_Silent_p.L321L|FAT3_ENST00000525166.1_Silent_p.L171L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	321	Cadherin 3. {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)				AGGAAAGTGGTTGAATGAGTA	0.448										TCGA Ovarian(4;0.039)																																						0													76	71	72					11																	92086239		1954	4153	6107	SO:0001819	synonymous_variant	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.961T>C	11.37:g.92086239T>C			B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37																																																																																					0.448	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		C	92086239	T	C	92086239	2	2	734	1	0	0	0	0	0	0	0	1	5693	1722	60	3		3	FAT3	11	92086239	Silent	SNP	T	TCGA-KN-8428-01A-11D-2310-10	2150619	92086239	42920277	581	42000											
FAT3	120114	ucsc.edu;mdanderson.org;bcgsc.ca	37	11	92577151	92577151	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:92577151C>T	ENST00000298047.6	+	18	10635	c.10618C>T	c.(10618-10620)Cga>Tga	p.R3540*	FAT3_ENST00000409404.2_Nonsense_Mutation_p.R3540*|FAT3_ENST00000533797.1_5'Flank|FAT3_ENST00000525166.1_Nonsense_Mutation_p.R3390*			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3540	Cadherin 32. {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)				CATCCGCGTGCGAGTCATTGA	0.468										TCGA Ovarian(4;0.039)																																						0													169	166	167					11																	92577151		1940	4143	6083	SO:0001587	stop_gained	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.10618C>T	11.37:g.92577151C>T	ENSP00000298047:p.Arg3540*		B5MDB0|Q96AU6	Nonsense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	C	51	18.536724	0.99906	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	.	.	.	5.62	2.63	0.31362	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	.	15.3673	0.74531	0.6076:0.3924:0.0:0.0	.	.	.	.	X	3540;3540;3390	.	ENSP00000298047:R3540X	R	+	1	2	FAT3	92216799	0.944000	0.32072	0.995000	0.50966	0.339000	0.28857	0.871000	0.28023	0.278000	0.22164	0.561000	0.74099	CGA		0.468	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		T	92577151	C	T	92577151	4	4	734	1	0	0	0	0	0	1	0	0	5693	760	27	1	10688	1	FAT3	11	92577151	Nonsense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	490912	92577151	42429365	582	42001											
PIWIL4	143689	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	11	94353042	94353042	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:94353042G>A	ENST00000299001.6	+	18	2496	c.2285G>A	c.(2284-2286)cGt>cAt	p.R762H	RP11-867G2.8_ENST00000536540.1_RNA|PIWIL4_ENST00000537419.1_Missense_Mutation_p.R113H|RP11-867G2.8_ENST00000537874.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	762	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				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)				GAAGCAACACGTAACGAATGG	0.428																																																0													122	107	112					11																	94353042		2201	4298	6499	SO:0001583	missense	143689			AB079366	CCDS31656.1	11q12	2013-02-15	2013-02-15			ENSG00000134627		"Argonaute/PIWI family"	18444	protein-coding gene	gene with protein product		610315	"piwi-like 4 (Drosophila)"			12906857	Standard	NM_152431		Approved	FLJ36156, HIWI2, Miwi2	uc001pfa.3	Q7Z3Z4		ENST00000299001.6:c.2285G>A	11.37:g.94353042G>A	ENSP00000299001:p.Arg762His		B4DEG5|Q68CZ4|Q8N8G9|Q8N9V8|Q8NEH2	Missense_Mutation	SNP	ENST00000299001.6	37	CCDS31656.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.213149	0.39102	.	.	ENSG00000134627	ENST00000299001;ENST00000537419	T;T	0.28666	1.6;1.6	5.13	3.25	0.37280	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.099888	0.39544	N	0.001325	T	0.43055	0.1230	L	0.52011	1.625	0.35257	D	0.779229	D	0.89917	1.0	D	0.87578	0.998	T	0.47661	-0.9100	10	0.13853	T	0.58	-6.5072	10.3432	0.43891	0.1625:0.0:0.8375:0.0	.	762	Q7Z3Z4	PIWL4_HUMAN	H	762;113	ENSP00000299001:R762H;ENSP00000439710:R113H	ENSP00000299001:R762H	R	+	2	0	PIWIL4	93992690	1.000000	0.71417	0.024000	0.17045	0.238000	0.25445	6.741000	0.74837	0.561000	0.29186	0.561000	0.74099	CGT		0.428	PIWIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396388.1	NM_152431		A	94353042	G	A	94353042	3	1	734	1	0	0	0	0	1	0	0	0	11962	1145	40	1	2355	1	PIWIL4	11	94353042	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1775891	94353042	40653474	583	42002											
BIRC3	330	broad.mit.edu	37	11	102201825	102201825	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:102201825A>G	ENST00000263464.3	+	6	3927	c.1177A>G	c.(1177-1179)Agc>Ggc	p.S393G	BIRC3_ENST00000532808.1_Missense_Mutation_p.S393G	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	baculoviral IAP repeat containing 3	393					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)		CTTTAGTAGAAGCCTGGTAAA	0.383			T	MALT1	MALT																																		Dom	yes		11	11q22-q23	330	baculoviral IAP repeat-containing 3		L	0													101	103	103					11																	102201825		2203	4299	6502	SO:0001583	missense	330			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.1177A>G	11.37:g.102201825A>G	ENSP00000263464:p.Ser393Gly		Q16628|Q9HC27|Q9UP46	Missense_Mutation	SNP	ENST00000263464.3	37	CCDS8315.1	.	.	.	.	.	.	.	.	.	.	A	6.750	0.507284	0.12883	.	.	ENSG00000023445	ENST00000263464;ENST00000532808	T;T	0.21932	1.98;1.98	5.19	2.78	0.32641	.	0.645884	0.18860	N	0.129165	T	0.24084	0.0583	M	0.74258	2.255	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.31194	-0.9952	10	0.14252	T	0.57	.	13.8423	0.63446	0.5406:0.4594:0.0:0.0	.	393	Q13489	BIRC3_HUMAN	G	393	ENSP00000263464:S393G;ENSP00000432907:S393G	ENSP00000263464:S393G	S	+	1	0	BIRC3	101707035	0.928000	0.31464	0.067000	0.19924	0.634000	0.38068	2.135000	0.42112	0.398000	0.25338	0.402000	0.26972	AGC		0.383	BIRC3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394159.1	NM_001165		G	102201825	A	G	102201825	3	3	734	1	0	0	0	0	1	0	0	0	1436	72	3	3	1195	3	BIRC3	11	102201825	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	7848783	102201825	32804691	584	42003											
MMP1	4312	broad.mit.edu;bcgsc.ca	37	11	102667418	102667418	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:102667418T>C	ENST00000315274.6	-	4	669	c.602A>G	c.(601-603)gAa>gGa	p.E201G	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	201	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)	GGTCCACCTTTCATCTTCATC	0.428																																																0													137	119	125					11																	102667418		2203	4299	6502	SO:0001583	missense	4312			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.602A>G	11.37:g.102667418T>C	ENSP00000322788:p.Glu201Gly		P08156	Missense_Mutation	SNP	ENST00000315274.6	37	CCDS8322.1	.	.	.	.	.	.	.	.	.	.	t	24.5	4.542761	0.85917	.	.	ENSG00000196611	ENST00000315274	T	0.32272	1.46	5.87	5.87	0.94306	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.083275	0.51477	D	0.000087	T	0.67804	0.2932	H	0.94385	3.53	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77778	-0.2460	10	0.87932	D	0	.	16.5764	0.84681	0.0:0.0:0.0:1.0	.	201	P03956	MMP1_HUMAN	G	201	ENSP00000322788:E201G	ENSP00000322788:E201G	E	-	2	0	MMP1	102172628	1.000000	0.71417	0.855000	0.33649	0.694000	0.40290	7.655000	0.83696	2.371000	0.80710	0.533000	0.62120	GAA		0.428	MMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109632.1	NM_002421		C	102667418	T	C	102667418	3	2	734	1	0	0	0	0	1	0	0	0	9650	1783	62	3	835	3	MMP1	11	102667418	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	465593	102667418	32339098	585	42004											
MMP12	4321	broad.mit.edu;ucsc.edu;mdanderson.org	37	11	102738681	102738681	+	RNA	SNP	G	G	A	rs183458117		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:102738681G>A	ENST00000532855.1	-	0	840							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	GCAGAGAGGCGAAATGTGTTG	0.418													G|||	1	0.000199681	0.0	0.0014	5008	,	,		21284	0.0		0.0	False		,,,				2504	0.0															0													81	79	80					11																	102738681		1918	4125	6043			4321			L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"matrix metalloproteinase 12 (macrophage elastase)"				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102738681G>A			B2R9X8|B7ZLF6|Q2M1L9	Missense_Mutation	SNP	ENST00000532855.1	37																																																																																					0.418	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1	NM_002426		A	102738681	G	A	102738681	1	1	734	0	1	0	0	0	0	0	0	0	9653	1049	37	1		1	MMP12	11	102738681	RNA	SNP	G	TCGA-KN-8428-01A-11D-2310-10	71263	102738681	32267835	586	42005											
DYNC2H1	79659	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	11	102987417	102987417	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:102987417G>A	ENST00000375735.2	+	5	884	c.740G>A	c.(739-741)cGa>cAa	p.R247Q	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.R247Q|DYNC2H1_ENST00000334267.7_Missense_Mutation_p.R247Q	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	247	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)		CCTGAGTCACGAATGTTGCAT	0.348																																																0													202	193	196					11																	102987417		1880	4111	5991	SO:0001583	missense	79659			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.740G>A	11.37:g.102987417G>A	ENSP00000364887:p.Arg247Gln		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	G	35	5.476600	0.96291	.	.	ENSG00000187240	ENST00000375735;ENST00000334267;ENST00000398093	T;T;T	0.70399	-0.48;-0.48;-0.48	5.49	5.49	0.81192	Dynein heavy chain, domain-1 (1);	0.636430	0.11876	U	0.521016	D	0.86125	0.5858	M	0.77820	2.39	0.80722	D	1	D;D;D	0.89917	1.0;0.98;0.997	D;P;P	0.83275	0.996;0.832;0.868	D	0.85384	0.1121	10	0.87932	D	0	.	19.3705	0.94481	0.0:0.0:1.0:0.0	.	247;247;247	Q8NCM8-3;Q8NCM8;Q8NCM8-2	.;DYHC2_HUMAN;.	Q	247	ENSP00000364887:R247Q;ENSP00000334021:R247Q;ENSP00000381167:R247Q	ENSP00000334021:R247Q	R	+	2	0	DYNC2H1	102492627	1.000000	0.71417	0.965000	0.40720	0.941000	0.58515	9.476000	0.97823	2.567000	0.86603	0.650000	0.86243	CGA		0.348	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		A	102987417	G	A	102987417	3	1	734	1	0	0	0	0	1	0	0	0	4848	1058	37	1	758	1	DYNC2H1	11	102987417	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	248736	102987417	32019099	587	42006											
ATM	472	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	11	108201014	108201014	+	Missense_Mutation	SNP	C	C	T	rs201314561		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:108201014C>T	ENST00000452508.2	+	51	7570	c.7381C>T	c.(7381-7383)Cgc>Tgc	p.R2461C	ATM_ENST00000278616.4_Missense_Mutation_p.R2461C|C11orf65_ENST00000525729.1_Intron			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2461	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				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)	GGATCGTAAACGCTTCTTATG	0.388			"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)			C|||	1	0.000199681	0.0008	0.0	5008	,	,		20856	0.0		0.0	False		,,,				2504	0.0					yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	0								C	CYS/ARG	3,4399	6.2+/-15.9	0,3,2198	127	130	129		7381	4.7	1	11		129	0,8596		0,0,4298	no	missense	ATM	NM_000051.3	180	0,3,6496	TT,TC,CC		0.0,0.0682,0.0231	probably-damaging	2461/3057	108201014	3,12995	2201	4298	6499	SO:0001583	missense	472	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.7381C>T	11.37:g.108201014C>T	ENSP00000388058:p.Arg2461Cys		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.701750	0.88924	6.82E-4	0.0	ENSG00000149311	ENST00000278616;ENST00000452508	D;D	0.83591	-1.74;-1.74	4.7	4.7	0.59300	PIK-related kinase (1);PIK-related kinase, FAT (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.90150	0.6922	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	D	0.91062	0.4886	10	0.59425	D	0.04	.	16.9756	0.86312	0.0:1.0:0.0:0.0	.	2461	Q13315	ATM_HUMAN	C	2461	ENSP00000278616:R2461C;ENSP00000388058:R2461C	ENSP00000278616:R2461C	R	+	1	0	ATM	107706224	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	4.480000	0.60243	2.293000	0.77203	0.561000	0.74099	CGC		0.388	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		T	108201014	C	T	108201014	3	4	734	1	0	0	0	0	1	0	0	0	1109	536	19	1	7575	1	ATM	11	108201014	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	5213597	108201014	26805502	588	42007											
PIH1D2	120379	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	11	111938616	111938616	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:111938616G>A	ENST00000280350.4	-	6	1149	c.927C>T	c.(925-927)atC>atT	p.I309I	PIH1D2_ENST00000528775.1_Intron|PIH1D2_ENST00000532211.1_Silent_p.I309I|PIH1D2_ENST00000431456.1_Intron	NM_138789.3	NP_620144.1	Q8WWB5	PIHD2_HUMAN	PIH1 domain containing 2	309										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)		GCATTGTGATGATTAGCGTGG	0.343																																																0													174	164	167					11																	111938616		2201	4296	6497	SO:0001819	synonymous_variant	120379			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.927C>T	11.37:g.111938616G>A			B4DU48|E9PD82	Silent	SNP	ENST00000280350.4	37	CCDS8355.1																																																																																				0.343	PIH1D2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391916.1	NM_138789		A	111938616	G	A	111938616	2	1	734	1	0	0	0	0	0	0	0	1	11909	1280	45	2		2	PIH1D2	11	111938616	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	3737602	111938616	23067900	589	42008											
TTC12	54970	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	11	113187003	113187003	+	Missense_Mutation	SNP	T	T	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:113187003T>A	ENST00000529221.1	+	2	129	c.24T>A	c.(22-24)gaT>gaA	p.D8E	TTC12_ENST00000483239.2_Missense_Mutation_p.D8E|RP11-839D17.3_ENST00000533504.1_RNA|TTC12_ENST00000393020.1_Missense_Mutation_p.D8E|TTC12_ENST00000314756.3_Missense_Mutation_p.D8E|RP11-839D17.3_ENST00000526487.1_RNA	NM_017868.3	NP_060338.3	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	8										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)		AAGAGAAAGATTTGCAGAAAT	0.333																																																0													44	48	47					11																	113187003		2201	4295	6496	SO:0001583	missense	54970			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.24T>A	11.37:g.113187003T>A	ENSP00000433757:p.Asp8Glu		Q8N5H9|Q9NWY3	Missense_Mutation	SNP	ENST00000529221.1	37	CCDS8360.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.16|13.16	2.154401|2.154401	0.38021|0.38021	.|.	.|.	ENSG00000149292|ENSG00000149292	ENST00000529221;ENST00000429951;ENST00000442859;ENST00000529850;ENST00000314756;ENST00000525965;ENST00000393020;ENST00000455306;ENST00000483239|ENST00000524580	T;T;T;T;T;T;T;T;T|.	0.56275|.	2.56;0.47;1.65;1.05;2.51;1.03;2.49;1.65;2.57|.	4.87|4.87	-0.324|-0.324	0.12706|0.12706	.|.	0.911967|.	0.09570|.	N|.	0.784259|.	T|T	0.50990|0.50990	0.1648|0.1648	M|M	0.64997|0.64997	1.995|1.995	0.29800|0.29800	N|N	0.832486|0.832486	P;P|.	0.46706|.	0.883;0.883|.	B;B|.	0.43301|.	0.415;0.415|.	T|T	0.55075|0.55075	-0.8197|-0.8197	10|6	0.34782|0.87932	T|D	0.22|0	-26.8681|-26.8681	8.7028|8.7028	0.34336|0.34336	0.0:0.4798:0.0:0.5202|0.0:0.4798:0.0:0.5202	.|.	8;8|.	A8K8G6;Q9H892|.	.;TTC12_HUMAN|.	E|N	8|7	ENSP00000433757:D8E;ENSP00000413335:D8E;ENSP00000400039:D8E;ENSP00000431806:D8E;ENSP00000315160:D8E;ENSP00000435308:D8E;ENSP00000376743:D8E;ENSP00000402004:D8E;ENSP00000419652:D8E|.	ENSP00000315160:D8E|ENSP00000436677:I7N	D|I	+|+	3|2	2|0	TTC12|TTC12	112692213|112692213	0.987000|0.987000	0.35691|0.35691	0.990000|0.990000	0.47175|0.47175	0.748000|0.748000	0.42578|0.42578	-0.111000|-0.111000	0.10807|0.10807	-0.230000|-0.230000	0.09840|0.09840	0.460000|0.460000	0.39030|0.39030	GAT|ATT		0.333	TTC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286455.2	NM_017868		A	113187003	T	A	113187003	3	1	734	1	0	0	0	0	1	0	0	0	16684	1490	52	5	26	5	TTC12	11	113187003	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	1248387	113187003	21819513	590	42009											
C11orf71	54494	broad.mit.edu	37	11	114262382	114262382	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:114262382T>C	ENST00000325636.4	-	2	434	c.349A>G	c.(349-351)Acc>Gcc	p.T117A		NM_019021.3	NP_061894.2	Q6IPW1	CK071_HUMAN	chromosome 11 open reading frame 71	0										large_intestine(3)|lung(1)	4		all_cancers(61;1.15e-11)|all_epithelial(67;5.3e-06)|all_hematologic(158;0.000303)|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;2.6e-06)|Epithelial(105;4.31e-05)|all cancers(92;0.00036)		agggtccaggtagtaactaaa	0.358																																																0													68	64	65					11																	114262382		692	1591	2283	SO:0001583	missense	54494			BC071695	CCDS8369.2	11q23.2	2012-08-09			ENSG00000180425	ENSG00000180425			25937	protein-coding gene	gene with protein product						12477932	Standard	NM_001271562		Approved	FLJ20010	uc001pot.2	Q6IPW1	OTTHUMG00000168247	ENST00000325636.4:c.349A>G	11.37:g.114262382T>C	ENSP00000325508:p.Thr117Ala		Q6IAD3|Q9NXX1	Missense_Mutation	SNP	ENST00000325636.4	37	CCDS8369.2	.	.	.	.	.	.	.	.	.	.	T	8.947	0.967299	0.18659	.	.	ENSG00000180425	ENST00000325636	.	.	.	1.61	-1.44	0.08856	.	.	.	.	.	T	0.25975	0.0633	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.19386	-1.0307	7	0.45353	T	0.12	0.035	4.8719	0.13637	0.0:0.6068:0.0:0.3932	.	117	Q6IPW1-2	.	A	117	.	ENSP00000325508:T117A	T	-	1	0	C11orf71	113767592	0.016000	0.18221	0.027000	0.17364	0.105000	0.19272	0.071000	0.14594	-0.306000	0.08818	0.372000	0.22366	ACC		0.358	C11orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398959.1	NM_019021		C	114262382	T	C	114262382	3	2	734	1	0	0	0	0	1	0	0	0	1662	1638	57	3	98	3	C11orf71	11	114262382	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	1075379	114262382	20744134	591	42010											
CEP164	22897	broad.mit.edu	37	11	117262985	117262985	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:117262985G>A	ENST00000278935.3	+	18	2474	c.2327G>A	c.(2326-2328)cGg>cAg	p.R776Q	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	776	Glu-rich.				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)		GAGCTGGAGCGGCTCTGCTCC	0.597																																																0													51	47	48					11																	117262985		2201	4296	6497	SO:0001583	missense	22897			AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.2327G>A	11.37:g.117262985G>A	ENSP00000278935:p.Arg776Gln		Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Missense_Mutation	SNP	ENST00000278935.3	37	CCDS31683.1	.	.	.	.	.	.	.	.	.	.	G	9.955	1.221185	0.22457	.	.	ENSG00000110274	ENST00000278935;ENST00000529538;ENST00000375253	T	0.41400	1.0	4.56	-2.63	0.06133	.	0.705996	0.12139	N	0.496071	T	0.19406	0.0466	N	0.12746	0.255	0.20074	N	0.999936	B;B;B;B	0.27117	0.047;0.168;0.078;0.078	B;B;B;B	0.20384	0.013;0.029;0.016;0.016	T	0.14559	-1.0468	10	0.27082	T	0.32	-4.898	7.9665	0.30102	0.6098:0.1213:0.2689:0.0	.	750;550;776;779	E9PI34;Q9NTH6;Q9UPV0;Q9UPV0-2	.;.;CE164_HUMAN;.	Q	776;750;657	ENSP00000278935:R776Q	ENSP00000278935:R776Q	R	+	2	0	CEP164	116768195	0.023000	0.18921	0.071000	0.20095	0.417000	0.31264	-0.959000	0.03853	-0.842000	0.04195	-0.339000	0.08088	CGG		0.597	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	NM_014956		A	117262985	G	A	117262985	3	1	734	1	0	0	0	0	1	0	0	0	3251	1116	39	1	2389	1	CEP164	11	117262985	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	3000603	117262985	17743531	592	42011											
MFRP	83552	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	11	119212383	119212383	+	Missense_Mutation	SNP	G	G	A	rs374823079		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:119212383G>A	ENST00000530681.1	-	13	1759	c.1615C>T	c.(1615-1617)Cgc>Tgc	p.R539C	MFRP_ENST00000555262.1_Missense_Mutation_p.R539C|C1QTNF5_ENST00000445041.2_5'UTR|C1QTNF5_ENST00000528368.1_5'Flank|MFRP_ENST00000449574.2_Missense_Mutation_p.R539C|MFRP_ENST00000360167.4_Missense_Mutation_p.R421C|C1QTNF5_ENST00000525657.1_5'Flank	NM_001278431.1	NP_001265360.1	Q9BY79	MFRP_HUMAN	membrane frizzled-related protein	539	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				embryo development (GO:0009790)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		CAGACAGAGCGGCAAGGGGGC	0.647																																																0								G	CYS/ARG,	0,4398		0,0,2199	31	37	35		1615,	4	1	11		35	1,8589	1.2+/-3.3	0,1,4294	no	missense,utr-5	MFRP,C1QTNF5	NM_031433.2,NM_015645.3	180,	0,1,6493	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,	539/580,	119212383	1,12987	2199	4295	6494	SO:0001583	missense	83552			AB055505	CCDS8421.1	11q23.3	2014-01-28			ENSG00000235718	ENSG00000235718			18121	protein-coding gene	gene with protein product	"membrane-type frizzled-related protein", "complement C1q tumor necrosis factor-related protein 5 precursor variant 1"	606227				11263980	Standard	NM_031433		Approved	FLJ30570, rd6, NNO2, C1QTNF5	uc001pwj.2	Q9BY79		ENST00000530681.1:c.1615C>T	11.37:g.119212383G>A	ENSP00000456533:p.Arg539Cys		B0YJ36|B0YJ37|B4DHN8|Q335M3|Q96DQ9	Missense_Mutation	SNP	ENST00000530681.1	37	CCDS8421.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.106910	0.77096	0.0	1.16E-4	ENSG00000235718	ENST00000555262;ENST00000449574;ENST00000360167	T;T;T	0.61510	0.1;0.1;0.1	4.89	3.95	0.45737	Frizzled domain (4);	0.000000	0.85682	D	0.000000	T	0.80644	0.4662	M	0.93150	3.385	0.58432	D	0.999998	D;D	0.89917	0.997;1.0	P;D	0.85130	0.887;0.997	D	0.84126	0.0409	10	0.54805	T	0.06	-22.1657	12.8114	0.57641	0.0:0.0:0.7042:0.2958	.	421;539	B4DHN8;Q9BY79	.;MFRP_HUMAN	C	539;539;421	ENSP00000450509:R539C;ENSP00000391664:R539C;ENSP00000353291:R421C	ENSP00000353291:R421C	R	-	1	0	MFRP	118717593	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.980000	0.63812	1.000000	0.39049	0.561000	0.74099	CGC		0.647	MFRP-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000415179.1	NM_031433		A	119212383	G	A	119212383	3	1	734	1	0	0	0	0	1	0	0	0	9528	1116	39	1	128	1	MFRP	11	119212383	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1949398	119212383	15794133	593	42012											
SRPR	6734	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	11	126135007	126135007	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:126135007G>A	ENST00000332118.6	-	11	1526	c.1372C>T	c.(1372-1374)Cgt>Tgt	p.R458C	SRPR_ENST00000532259.1_Missense_Mutation_p.R430C|SRPR_ENST00000530680.1_5'Flank	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	458					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)		GCCCCAGCACGAAATGTATCA	0.517																																																0													57	54	55					11																	126135007		2201	4299	6500	SO:0001583	missense	6734			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.1372C>T	11.37:g.126135007G>A	ENSP00000328023:p.Arg458Cys		A6NIB3|B2R5Z8|B4E0H3|E9PJS4|Q9BVJ4	Missense_Mutation	SNP	ENST00000332118.6	37	CCDS31717.1	.	.	.	.	.	.	.	.	.	.	G	33	5.231973	0.95207	.	.	ENSG00000182934	ENST00000332118;ENST00000532259	.	.	.	5.26	5.26	0.73747	ATPase, AAA+ type, core (1);Signal recognition particle, SRP54 subunit, GTPase (2);	0.000000	0.85682	D	0.000000	D	0.91771	0.7397	H	0.99415	4.555	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95098	0.8228	9	0.87932	D	0	-8.6525	19.0619	0.93096	0.0:0.0:1.0:0.0	.	430;458	E9PJS4;P08240	.;SRPR_HUMAN	C	458;430	.	ENSP00000328023:R458C	R	-	1	0	SRPR	125640217	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.345000	0.97053	2.744000	0.94065	0.650000	0.86243	CGT		0.517	SRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386425.2	NM_003139		A	126135007	G	A	126135007	3	1	734	1	0	0	0	0	1	0	0	0	15167	1058	37	1	560	1	SRPR	11	126135007	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	6922624	126135007	8871509	594	42013											
KCNJ1	3758	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	11	128709264	128709264	+	Missense_Mutation	SNP	C	C	T	rs373198476		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:128709264C>T	ENST00000392664.2	-	2	1048	c.932G>A	c.(931-933)cGg>cAg	p.R311Q	KCNJ1_ENST00000392665.2_Missense_Mutation_p.R292Q|KCNJ1_ENST00000392666.1_Missense_Mutation_p.R292Q|KCNJ1_ENST00000324036.3_Missense_Mutation_p.R292Q|KCNJ1_ENST00000440599.2_Missense_Mutation_p.R292Q	NM_000220.4	NP_000211.1	P48048	KCNJ1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	311					cardiovascular system development (GO:0072358)|excretion (GO:0007588)|kidney development (GO:0001822)|post-embryonic development (GO:0009791)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of G-protein activated inward rectifier potassium channel activity (GO:1900128)|renal sodium ion absorption (GO:0070294)|synaptic transmission (GO:0007268)|tissue homeostasis (GO:0001894)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Bethanidine(DB00217)|Glimepiride(DB00222)|Glyburide(DB01016)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Tolazamide(DB00839)|Tolbutamide(DB01124)|Yohimbine(DB01392)	ATAGGATGTCCGGACTTGGCA	0.498													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20427	0.0		0.0	False		,,,				2504	0.0															0			GRCh37	CM994546	KCNJ1	M		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4402		0,0,2201	73	69	70		932,875,875,875,875	5.6	1	11		70	1,8593	1.2+/-3.3	0,1,4296	no	missense,missense,missense,missense,missense	KCNJ1	NM_000220.2,NM_153764.1,NM_153765.1,NM_153766.1,NM_153767.2	43,43,43,43,43	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	311/392,292/373,292/373,292/373,292/373	128709264	1,12995	2201	4297	6498	SO:0001583	missense	3758			BC063109	CCDS8476.1, CCDS8477.1	11q24	2011-07-05			ENSG00000151704	ENSG00000151704		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6255	protein-coding gene	gene with protein product		600359				7680431, 8190102, 16382105	Standard	NM_153765		Approved	Kir1.1, ROMK1	uc001qeo.2	P48048	OTTHUMG00000048247	ENST00000392664.2:c.932G>A	11.37:g.128709264C>T	ENSP00000376432:p.Arg311Gln		B2RMR4|Q6LD67	Missense_Mutation	SNP	ENST00000392664.2	37	CCDS8476.1	.	.	.	.	.	.	.	.	.	.	C	32	5.192115	0.94923	0.0	1.16E-4	ENSG00000151704	ENST00000392665;ENST00000392666;ENST00000440599;ENST00000324036;ENST00000392664	D;D;D;D;D	0.94758	-3.51;-3.51;-3.51;-3.51;-3.51	5.63	5.63	0.86233	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	0.98055	0.9359	M	0.93106	3.38	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98703	1.0701	10	0.87932	D	0	.	19.6914	0.96002	0.0:1.0:0.0:0.0	.	311	P48048	IRK1_HUMAN	Q	292;292;292;292;311	ENSP00000376433:R292Q;ENSP00000376434:R292Q;ENSP00000406320:R292Q;ENSP00000316233:R292Q;ENSP00000376432:R311Q	ENSP00000316233:R292Q	R	-	2	0	KCNJ1	128214474	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.644000	0.89710	0.563000	0.77884	CGG		0.498	KCNJ1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386233.1	NM_000220		T	128709264	C	T	128709264	3	4	734	1	0	0	0	0	1	0	0	0	8045	652	23	1	247	1	KCNJ1	11	128709264	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	2574257	128709264	6297252	595	42014											
KCNJ5	3762	broad.mit.edu;ucsc.edu;mdanderson.org	37	11	128781258	128781258	+	Silent	SNP	C	C	T	rs201886526		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:128781258C>T	ENST00000338350.4	+	3	442	c.90C>T	c.(88-90)cgC>cgT	p.R30R	KCNJ5_ENST00000529694.1_Silent_p.R30R|KCNJ5_ENST00000533599.1_Silent_p.R30R			P48544	KCNJ5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	30					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)	AACAGGCCCGCGATTATGTCC	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		19312	0.0		0.0	False		,,,				2504	0.001				Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231)											0													78	80	80					11																	128781258		2201	4297	6498	SO:0001819	synonymous_variant	3762			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.90C>T	11.37:g.128781258C>T			B2R744|Q6DK13|Q6DK14|Q92807	Silent	SNP	ENST00000338350.4	37	CCDS8479.1																																																																																				0.582	KCNJ5-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386239.1	NM_000890		T	128781258	C	T	128781258	2	4	734	1	0	0	0	0	0	0	0	1	8056	755	27	1		1	KCNJ5	11	128781258	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	71994	128781258	6225258	596	42015											
IGSF9B	22997	broad.mit.edu;mdanderson.org	37	11	133800913	133800913	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:133800913C>T	ENST00000321016.8	-	11	1715	c.1485G>A	c.(1483-1485)acG>acA	p.T495T	IGSF9B_ENST00000533871.2_Silent_p.T495T			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	495	Ig-like 5.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CAGTGATGCTCGTGACCACGT	0.682																																																0													66	75	72					11																	133800913		2199	4294	6493	SO:0001819	synonymous_variant	22997			AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.1485G>A	11.37:g.133800913C>T			G5EA26	Silent	SNP	ENST00000321016.8	37																																																																																					0.682	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		T	133800913	C	T	133800913	2	4	734	1	0	0	0	0	0	0	0	1	7608	871	31	1		1	IGSF9B	11	133800913	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	5019655	133800913	1205603	597	42016											
JAM3	83700	broad.mit.edu;hgsc.bcm.edu	37	11	134009776	134009777	+	Nonsense_Mutation	DNP	CC	CC	AA	rs143947882		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	CC	CC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:134009776_134009777CC>AA	ENST00000299106.4	+	2	266_267	c.107_108CC>AA	c.(106-108)tCC>tAA	p.S36*	JAM3_ENST00000441717.3_Nonsense_Mutation_p.S36*|JAM3_ENST00000524969.1_3'UTR|JAM3_ENST00000529443.2_Nonsense_Mutation_p.S81*			Q9BX67	JAM3_HUMAN	junctional adhesion molecule 3	36	Ig-like V-type.				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)		AATCTCAAATCCAGCAATCGAA	0.441											OREG0021547	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0																																										SO:0001587	stop_gained	83700			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	Exception_encountered	11.37:g.134009776_134009777delinsAA	ENSP00000299106:p.Ser36*	1607	B3KWG9|Q8WWL8|Q96FL1	Silent	DNP	ENST00000299106.4	37	CCDS8494.2																																																																																				0.441	JAM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393303.4	NM_032801		AA	134009777	CC	AA	134009776	4	1	734	1	0	0	0	0	0	1	0	0	7946	855	30	4	248	4	JAM3	11	134009776	Nonsense_Mutation	DNP	CC	TCGA-KN-8428-01A-11D-2310-10	208863	134009776	996740	598	42017											
NCAPD3	23310	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	11	134027834	134027834	+	Missense_Mutation	SNP	G	G	A	rs116394634	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:134027834G>A	ENST00000534548.2	-	31	4227	c.4163C>T	c.(4162-4164)aCg>aTg	p.T1388M		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1388					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)		CTGACTGCACGTTTTTTCTGG	0.453													G|||	21	0.00419329	0.0144	0.0014	5008	,	,		19869	0.0		0.001	False		,,,				2504	0.0															0								G	MET/THR	48,4354	49.6+/-84.7	1,46,2154	214	220	218		4163	-5.2	0	11	dbSNP_132	218	1,8593	1.2+/-3.3	0,1,4296	yes	missense	NCAPD3	NM_015261.2	81	1,47,6450	AA,AG,GG		0.0116,1.0904,0.377	benign	1388/1499	134027834	49,12947	2201	4297	6498	SO:0001583	missense	23310			AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.4163C>T	11.37:g.134027834G>A	ENSP00000433681:p.Thr1388Met		A6NFS2|Q4KMQ9	Missense_Mutation	SNP	ENST00000534548.2	37	CCDS31723.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	G	8.614	0.889716	0.17540	0.010904	1.16E-4	ENSG00000151503	ENST00000534548	T	0.30448	1.53	3.99	-5.24	0.02789	.	1.841410	0.02497	N	0.090091	T	0.12305	0.0299	N	0.22421	0.69	0.09310	N	1	B;B	0.20368	0.032;0.044	B;B	0.13407	0.009;0.004	T	0.12837	-1.0532	10	0.52906	T	0.07	0.2656	1.8603	0.03187	0.2792:0.3818:0.2094:0.1296	.	1388;448	P42695;Q96FA6	CNDD3_HUMAN;.	M	1388	ENSP00000433681:T1388M	ENSP00000433681:T1388M	T	-	2	0	NCAPD3	133533044	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.108000	0.15396	-1.094000	0.03054	0.561000	0.74099	ACG		0.453	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		A	134027834	G	A	134027834	3	1	734	1	0	0	0	0	1	0	0	0	10208	1145	40	1	353	1	NCAPD3	11	134027834	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	18058	134027834	978682	599	42018											
KCNA1	3736	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	12	5020791	5020791	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:5020791G>T	ENST00000382545.3	+	2	1354	c.247G>T	c.(247-249)Gac>Tac	p.D83Y	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)	83					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)	GTACTTCTTCGACCGCAACCG	0.632																																																0													65	66	66					12																	5020791		2203	4300	6503	SO:0001583	missense	3736			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.247G>T	12.37:g.5020791G>T	ENSP00000371985:p.Asp83Tyr		A6NM83|Q3MIQ9	Missense_Mutation	SNP	ENST00000382545.3	37	CCDS8535.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.528424	0.64860	.	.	ENSG00000111262	ENST00000382545;ENST00000228858	D	0.85773	-2.03	4.34	3.44	0.39384	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.95774	0.8625	H	0.99650	4.68	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96686	0.9507	10	0.87932	D	0	.	13.0486	0.58942	0.0:0.0:0.8379:0.1621	.	83	Q09470	KCNA1_HUMAN	Y	83	ENSP00000371985:D83Y	ENSP00000228858:D83Y	D	+	1	0	KCNA1	4891052	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.699000	0.84547	1.152000	0.42452	0.650000	0.86243	GAC		0.632	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103343.2	NM_000217		T	5020791	G	T	5020791	3	4	734	1	0	0	0	0	1	0	0	0	8003	1058	37	4	249	4	KCNA1	12	5020791	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10		5020791	128831104	600	42019											
VWF	7450	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	6078503	6078503	+	Nonsense_Mutation	SNP	G	G	A	rs61751296		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:6078503G>A	ENST00000261405.5	-	45	7857	c.7603C>T	c.(7603-7605)Cga>Tga	p.R2535*		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2535					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)	TCCTTCACTCGGACACACTCA	0.607																																																0			GRCh37	CM910408	VWF	M	rs61751296	G	stop/ARG	0,4406		0,0,2203	59	59	59	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	7603	4	1	12	dbSNP_129	59	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	VWF	NM_000552.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		2535/2814	6078503	1,13005	2203	4300	6503	SO:0001587	stop_gained	7450				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.7603C>T	12.37:g.6078503G>A	ENSP00000261405:p.Arg2535*		Q8TCE8|Q99806	Nonsense_Mutation	SNP	ENST00000261405.5	37	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	G	50	16.762652	0.99871	0.0	1.16E-4	ENSG00000110799	ENST00000261405	.	.	.	4.87	3.96	0.45880	.	0.217378	0.23358	N	0.049054	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.1546	0.54070	0.0:0.0:0.8279:0.1721	rs61751296	.	.	.	X	2535	.	ENSP00000261405:R2535X	R	-	1	2	VWF	5948764	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	2.597000	0.46214	1.234000	0.43709	0.561000	0.74099	CGA		0.607	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		A	6078503	G	A	6078503	4	1	734	1	0	0	0	0	0	1	0	0	17251	1124	39	1	870	1	VWF	12	6078503	Nonsense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1057712	6078503	127773392	601	42020											
PLEKHG6	55200	broad.mit.edu;bcgsc.ca	37	12	6435610	6435610	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:6435610T>C	ENST00000396988.3	+	14	1771	c.1541T>C	c.(1540-1542)cTg>cCg	p.L514P	PLEKHG6_ENST00000011684.7_Missense_Mutation_p.L514P|PLEKHG6_ENST00000449001.2_Missense_Mutation_p.L482P|PLEKHG6_ENST00000304581.8_Missense_Mutation_p.L44P	NM_001144856.1	NP_001138328.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	514						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						CTACAGAAGCTGAAGGCAGAG	0.557																																																0													54	53	54					12																	6435610		2203	4300	6503	SO:0001583	missense	55200			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.1541T>C	12.37:g.6435610T>C	ENSP00000380185:p.Leu514Pro		Q3SWR1|Q8N1P1|Q8WYY1|Q9H8F4|Q9NVK9	Missense_Mutation	SNP	ENST00000396988.3	37	CCDS8541.1	.	.	.	.	.	.	.	.	.	.	T	19.51	3.840501	0.71488	.	.	ENSG00000008323	ENST00000011684;ENST00000396988;ENST00000449001;ENST00000304581	T;T;T	0.69306	-0.26;-0.26;-0.39	5.21	5.21	0.72293	Pleckstrin homology-type (1);	0.000000	0.40064	N	0.001191	T	0.70552	0.3237	L	0.36672	1.1	0.53688	D	0.999976	D;D	0.61697	0.99;0.984	P;P	0.61201	0.885;0.819	T	0.73626	-0.3923	10	0.87932	D	0	-12.4017	11.4464	0.50125	0.0:0.0:0.0:1.0	.	482;514	Q3KR16-2;Q3KR16	.;PKHG6_HUMAN	P	514;514;482;44	ENSP00000011684:L514P;ENSP00000380185:L514P;ENSP00000393194:L482P	ENSP00000011684:L514P	L	+	2	0	PLEKHG6	6305871	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	3.432000	0.52824	2.195000	0.70347	0.529000	0.55759	CTG		0.557	PLEKHG6-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399031.1	NM_018173		C	6435610	T	C	6435610	3	2	734	1	0	0	0	0	1	0	0	0	12076	1580	55	3	1637	3	PLEKHG6	12	6435610	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	357107	6435610	127416285	602	42021											
SCNN1A	6337	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	12	6471284	6471284	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:6471284G>T	ENST00000228916.2	-	4	906	c.808C>A	c.(808-810)Ctg>Atg	p.L270M	SCNN1A_ENST00000360168.3_Missense_Mutation_p.L329M|SCNN1A_ENST00000396966.2_Missense_Mutation_p.L270M|SCNN1A_ENST00000540037.1_De_novo_Start_OutOfFrame|SCNN1A_ENST00000358945.3_Missense_Mutation_p.L270M|SCNN1A_ENST00000543768.1_Missense_Mutation_p.L293M|SCNN1A_ENST00000538979.1_Intron	NM_001038.5	NP_001029.1	P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	270					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)	TCCTCCTCCAGGGATGGCAGA	0.592																																																0													126	104	112					12																	6471284		2203	4300	6503	SO:0001583	missense	6337			Z92978	CCDS8543.1, CCDS53738.1, CCDS53739.1	12p13	2012-02-28	2012-02-28		ENSG00000111319	ENSG00000111319		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10599	protein-coding gene	gene with protein product		600228	"sodium channel, nonvoltage-gated 1 alpha", "sodium channel, non-voltage-gated 1 alpha"	SCNN1		7896277	Standard	NM_001038		Approved	ENaCalpha	uc001qnw.3	P37088	OTTHUMG00000168268	ENST00000228916.2:c.808C>A	12.37:g.6471284G>T	ENSP00000228916:p.Leu270Met		A5X2U9|B4E2Q5|C5HTZ0|O43271|Q6GSQ6|Q9UM64	Missense_Mutation	SNP	ENST00000228916.2	37	CCDS8543.1	.	.	.	.	.	.	.	.	.	.	G	10.45	1.353258	0.24512	.	.	ENSG00000111319	ENST00000360168;ENST00000358945;ENST00000228916;ENST00000396966;ENST00000543768	T;T;T;T;T	0.70631	-0.45;-0.5;-0.43;-0.1;-0.43	5.05	3.19	0.36642	.	0.949950	0.08696	N	0.907143	T	0.79435	0.4445	M	0.70595	2.14	0.09310	N	1	D;D;P	0.56968	0.978;0.96;0.757	P;P;P	0.61003	0.878;0.882;0.511	T	0.61753	-0.6998	10	0.45353	T	0.12	-6.8226	6.8831	0.24185	0.0961:0.1769:0.727:0.0	.	293;270;329	B4E2Q5;P37088;P37088-2	.;SCNNA_HUMAN;.	M	329;270;270;270;293	ENSP00000353292:L329M;ENSP00000351825:L270M;ENSP00000228916:L270M;ENSP00000380166:L270M;ENSP00000438739:L293M	ENSP00000228916:L270M	L	-	1	2	SCNN1A	6341545	0.298000	0.24417	0.000000	0.03702	0.215000	0.24574	1.623000	0.37008	0.500000	0.27991	0.561000	0.74099	CTG		0.592	SCNN1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399055.1			T	6471284	G	T	6471284	3	4	734	1	0	0	0	0	1	0	0	0	13933	991	35	4	1241	4	SCNN1A	12	6471284	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	35674	6471284	127380611	603	42022											
IFFO1	25900	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	12	6657689	6657689	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:6657689C>T	ENST00000396840.2	-	6	1293	c.1252G>A	c.(1252-1254)Gac>Aac	p.D418N	IFFO1_ENST00000436152.2_Missense_Mutation_p.D114N|IFFO1_ENST00000336604.4_Missense_Mutation_p.D421N|IFFO1_ENST00000465801.1_Missense_Mutation_p.D114N|IFFO1_ENST00000356896.4_Missense_Mutation_p.D421N			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	418						intermediate filament (GO:0005882)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						CTGTCACAGTCGTCCTCAAAA	0.642																																																0													65	65	65					12																	6657689		2203	4300	6503	SO:0001583	missense	25900			AF124432	CCDS8550.1, CCDS41741.1, CCDS8550.2, CCDS73425.1	12p13.31	2013-01-16	2008-09-11	2008-09-11	ENSG00000010295	ENSG00000010295		"Intermediate filament family orphans"	24970	protein-coding gene	gene with protein product		610495	"intermediate filament family orphan"	IFFO		8771189, 3052284	Standard	NM_001193457		Approved	HOM-TES-103	uc010sfe.2	Q0D2I5	OTTHUMG00000141264	ENST00000396840.2:c.1252G>A	12.37:g.6657689C>T	ENSP00000380052:p.Asp418Asn		Q24JT6|Q7L5J9|Q7Z5X4|Q9BQ46	Missense_Mutation	SNP	ENST00000396840.2	37		.	.	.	.	.	.	.	.	.	.	C	23.1	4.373339	0.82573	.	.	ENSG00000010295	ENST00000436152;ENST00000465801;ENST00000336604;ENST00000396840;ENST00000356896;ENST00000423501	D;D;D;D;D	0.95069	-3.6;-3.31;-3.13;-3.13;-3.18	4.55	3.65	0.41850	.	0.057967	0.64402	D	0.000003	D	0.96565	0.8879	M	0.71581	2.175	0.80722	D	1	D;D;D;D;D;D	0.89917	0.984;1.0;0.984;0.984;0.984;1.0	P;D;P;P;P;D	0.91635	0.593;0.999;0.593;0.593;0.593;0.999	D	0.96579	0.9429	10	0.87932	D	0	-21.9407	13.8215	0.63322	0.1544:0.8456:0.0:0.0	.	420;113;421;418;421;122	Q0D2I5-7;Q6P593;Q0D2I5-4;Q0D2I5;Q0D2I5-5;B4DQQ1	.;.;.;IFFO1_HUMAN;.;.	N	114;114;421;418;421;58	ENSP00000390721:D114N;ENSP00000436261:D114N;ENSP00000337593:D421N;ENSP00000380052:D418N;ENSP00000349364:D421N	ENSP00000337593:D421N	D	-	1	0	IFFO1	6527950	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.681000	0.84073	0.878000	0.35920	-0.182000	0.12963	GAC		0.642	IFFO1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000280428.1	NM_080730		T	6657689	C	T	6657689	3	4	734	1	0	0	0	0	1	0	0	0	7512	884	31	1	446	1	IFFO1	12	6657689	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	186405	6657689	127194206	604	42023											
LPCAT3	10162	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	12	7088722	7088722	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:7088722G>A	ENST00000261407.4	-	7	782	c.697C>T	c.(697-699)Cgc>Tgc	p.R233C	LPCAT3_ENST00000535021.1_5'UTR|U47924.30_ENST00000606112.1_lincRNA	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	233					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						AGACTCAGGCGCTTGAGAGCA	0.512																																																0													104	86	92					12																	7088722		2203	4300	6503	SO:0001583	missense	10162			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.697C>T	12.37:g.7088722G>A	ENSP00000261407:p.Arg233Cys		B2RDH0|B7Z3N3|Q7KZS1|Q92980|Q9BW40	Missense_Mutation	SNP	ENST00000261407.4	37	CCDS8572.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.638586	0.87760	.	.	ENSG00000111684	ENST00000261407	T	0.73897	-0.79	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.86785	0.6016	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87116	0.2188	10	0.62326	D	0.03	-14.3872	19.7096	0.96089	0.0:0.0:1.0:0.0	.	233	Q6P1A2	MBOA5_HUMAN	C	233	ENSP00000261407:R233C	ENSP00000261407:R233C	R	-	1	0	LPCAT3	6958983	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.678000	0.68153	2.652000	0.90054	0.655000	0.94253	CGC		0.512	LPCAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401812.1	NM_005768		A	7088722	G	A	7088722	3	1	734	1	0	0	0	0	1	0	0	0	8914	1087	38	1	790	1	LPCAT3	12	7088722	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	431033	7088722	126763173	605	42024											
C1R	715	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	7188165	7188165	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:7188165C>T	ENST00000542285.1	-	11	1782	c.1633G>A	c.(1633-1635)Ggg>Agg	p.G545R				P00736	C1R_HUMAN	complement component 1, r subcomponent	597	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TCCATGACCCCGAAGCCACTG	0.552																																																0													49	50	49					12																	7188165		2064	4200	6264	SO:0001583	missense	715			M14058		12p13.31	2014-05-14			ENSG00000159403	ENSG00000159403	3.4.21.41	"Complement system"	1246	protein-coding gene	gene with protein product		613785					Standard	NM_001733		Approved		uc010sfy.2	P00736	OTTHUMG00000168149	ENST00000542285.1:c.1633G>A	12.37:g.7188165C>T	ENSP00000438615:p.Gly545Arg		A6NJQ8|Q68D77|Q8J012	Missense_Mutation	SNP	ENST00000542285.1	37		.	.	.	.	.	.	.	.	.	.	C	23.6	4.438853	0.83885	.	.	ENSG00000159403	ENST00000290575;ENST00000542285	D	0.94000	-3.33	5.7	5.7	0.88788	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.64402	D	0.000001	D	0.97071	0.9043	.	.	.	0.58432	D	0.999994	D	0.89917	1.0	D	0.97110	1.0	D	0.97261	0.9904	9	0.87932	D	0	.	19.8479	0.96722	0.0:1.0:0.0:0.0	.	597	P00736	C1R_HUMAN	R	560;545	ENSP00000438615:G545R	ENSP00000290575:G560R	G	-	1	0	C1R	7058420	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	5.510000	0.67018	2.681000	0.91329	0.655000	0.94253	GGG		0.552	C1R-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001733		T	7188165	C	T	7188165	3	4	734	1	0	0	0	0	1	0	0	0	1974	652	23	1	332	1	C1R	12	7188165	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	99443	7188165	126663730	606	42025											
SLC2A3	6515	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	12	8083895	8083895	+	Silent	SNP	A	A	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:8083895A>T	ENST00000075120.7	-	4	696	c.456T>A	c.(454-456)ggT>ggA	p.G152G		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	152					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		TGCCAAAGGCACCCCGCAGGG	0.522																																					Colon(96;424 1461 14416 20933 23688)											0													80	76	77					12																	8083895		2203	4300	6503	SO:0001819	synonymous_variant	6515			M20681	CCDS8586.1	12p13.3	2013-05-22			ENSG00000059804	ENSG00000059804		"Solute carriers"	11007	protein-coding gene	gene with protein product		138170		GLUT3			Standard	NM_006931		Approved		uc001qtr.3	P11169	OTTHUMG00000133685	ENST00000075120.7:c.456T>A	12.37:g.8083895A>T			B2R606|D3DUU6|Q6I9U2|Q9UG15	Silent	SNP	ENST00000075120.7	37	CCDS8586.1																																																																																				0.522	SLC2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257914.1	NM_006931		T	8083895	A	T	8083895	2	4	734	1	0	0	0	0	0	0	0	1	14551	146	6	5		5	SLC2A3	12	8083895	Silent	SNP	A	TCGA-KN-8428-01A-11D-2310-10	895730	8083895	125768000	607	42026											
AICDA	57379	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	8757413	8757413	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:8757413C>T	ENST00000229335.6	-	4	636	c.533G>A	c.(532-534)cGc>cAc	p.R178H	AICDA_ENST00000537228.1_Missense_Mutation_p.R168H	NM_020661.2	NP_065712.1	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	178					B cell differentiation (GO:0030183)|cellular response to lipopolysaccharide (GO:0071222)|DNA demethylation (GO:0080111)|isotype switching (GO:0045190)|mRNA processing (GO:0006397)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|somatic diversification of immunoglobulins (GO:0016445)|somatic hypermutation of immunoglobulin genes (GO:0016446)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cytidine deaminase activity (GO:0004126)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					CAAAAGGATGCGCCGAAGCTG	0.378																																					GBM(62;896 1067 5527 26594 30137)											0													116	113	114					12																	8757413		1809	4078	5887	SO:0001583	missense	57379			AB040430	CCDS41747.1	12p13	2014-09-17			ENSG00000111732	ENSG00000111732		"Apolipoprotein B mRNA editing enzymes"	13203	protein-coding gene	gene with protein product		605257					Standard	NM_020661		Approved	HIGM2, CDA2, ARP2, AID	uc001qur.2	Q9GZX7	OTTHUMG00000168676	ENST00000229335.6:c.533G>A	12.37:g.8757413C>T	ENSP00000229335:p.Arg178His		Q6QJ81|Q8NFC1	Missense_Mutation	SNP	ENST00000229335.6	37	CCDS41747.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.6|21.6	4.174200|4.174200	0.78452|0.78452	.|.	.|.	ENSG00000111732|ENSG00000111732	ENST00000545512|ENST00000229335;ENST00000537228	.|T;T	.|0.64085	.|-0.08;-0.08	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	.|0.161178	.|0.56097	.|D	.|0.000025	T|T	0.78984|0.78984	0.4370|0.4370	M|M	0.78456|0.78456	2.415|2.415	0.58432|0.58432	D|D	0.999992|0.999992	.|D;D	.|0.76494	.|0.999;0.999	.|D;D	.|0.70935	.|0.971;0.958	T|T	0.80786|0.80786	-0.1227|-0.1227	5|10	.|0.59425	.|D	.|0.04	-21.6348|-21.6348	15.9806|15.9806	0.80105|0.80105	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|178;168	.|Q9GZX7;Q6QJ81	.|AICDA_HUMAN;.	T|H	177|178;168	.|ENSP00000229335:R178H;ENSP00000445691:R168H	.|ENSP00000229335:R178H	A|R	-|-	1|2	0|0	AICDA|AICDA	8648680|8648680	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.936000|0.936000	0.57629|0.57629	5.700000|5.700000	0.68318|0.68318	2.546000|2.546000	0.85860|0.85860	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.378	AICDA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400575.1	NM_020661		T	8757413	C	T	8757413	3	4	734	1	0	0	0	0	1	0	0	0	422	768	27	1	71	1	AICDA	12	8757413	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	673518	8757413	125094482	608	42027											
RIMKLB	57494	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	8902463	8902463	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:8902463C>T	ENST00000538135.1	+	3	1006	c.181C>T	c.(181-183)Cgg>Tgg	p.R61W	RIMKLB_ENST00000357529.3_Missense_Mutation_p.R61W|RIMKLB_ENST00000299673.5_3'UTR|RIMKLB_ENST00000535829.1_Missense_Mutation_p.R61W			Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family member B	61					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|citrate-L-glutamate ligase activity (GO:0072591)|metal ion binding (GO:0046872)|N-acetyl-L-aspartate-L-glutamate ligase activity (GO:0072590)			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TTCAGGTCTGCGGATCAATGG	0.408																																																0													34	32	33					12																	8902463		1872	4104	5976	SO:0001583	missense	57494			AB033064	CCDS41748.1	12p13.31	2011-09-21	2008-10-13	2008-10-13	ENSG00000166532	ENSG00000166532	6.3.2.N6		29228	protein-coding gene	gene with protein product	"N-acetylaspartyl-glutamate synthetase"	614054	"family with sequence similarity 80, member B"	FAM80B		10574462, 20643647	Standard	XM_006719116		Approved	KIAA1238, NAAGS, NAAGS-I	uc001qux.2	Q9ULI2		ENST00000538135.1:c.181C>T	12.37:g.8902463C>T	ENSP00000440943:p.Arg61Trp		B7Z834|D3DUV2|Q8N4P4|Q8WTW6	Missense_Mutation	SNP	ENST00000538135.1	37	CCDS41748.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.112773	0.77210	.	.	ENSG00000166532	ENST00000541044;ENST00000539923;ENST00000537189;ENST00000535829;ENST00000357529;ENST00000538135	.	.	.	5.47	5.47	0.80525	.	0.092366	0.45606	U	0.000341	T	0.67674	0.2918	L	0.47716	1.5	0.80722	D	1	D;D	0.76494	0.999;0.998	P;P	0.59221	0.854;0.732	T	0.68481	-0.5397	9	0.54805	T	0.06	.	17.8968	0.88891	0.0:1.0:0.0:0.0	.	61;61	Q9ULI2-2;Q9ULI2	.;RIMKB_HUMAN	W	61;61;122;61;61;61	.	ENSP00000350136:R61W	R	+	1	2	RIMKLB	8793730	1.000000	0.71417	0.953000	0.39169	0.434000	0.31775	7.392000	0.79840	2.571000	0.86741	0.591000	0.81541	CGG		0.408	RIMKLB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398874.1	NM_020734		T	8902463	C	T	8902463	3	4	734	1	0	0	0	0	1	0	0	0	13372	759	27	1	187	1	RIMKLB	12	8902463	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	145050	8902463	124949432	609	42028											
LOH12CR1	118426	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	12618601	12618601	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:12618601T>C	ENST00000314565.4	+	4	813	c.482T>C	c.(481-483)aTg>aCg	p.M161T	LOH12CR1_ENST00000542728.1_Missense_Mutation_p.M142T|LOH12CR1_ENST00000298571.6_Missense_Mutation_p.M113T	NM_058169.3	NP_477517.1	Q969J3	L12R1_HUMAN	loss of heterozygosity, 12, chromosomal region 1	161										kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.0205)		CGCATACAGATGGGCATCGAC	0.607																																																0													80	63	69					12																	12618601		2203	4300	6503	SO:0001583	missense	118426			AY037865	CCDS8649.1, CCDS73448.1	12p12	2008-07-03			ENSG00000165714	ENSG00000165714			17950	protein-coding gene	gene with protein product						11896457, 15284860	Standard	XR_242885		Approved	LOH1CR12	uc001ral.2	Q969J3	OTTHUMG00000168542	ENST00000314565.4:c.482T>C	12.37:g.12618601T>C	ENSP00000321546:p.Met161Thr		Q96QS5	Missense_Mutation	SNP	ENST00000314565.4	37	CCDS8649.1	.	.	.	.	.	.	.	.	.	.	T	5.793	0.330582	0.10956	.	.	ENSG00000165714	ENST00000542728;ENST00000314565;ENST00000298571	T;T;T	0.42513	0.97;0.97;0.97	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.31295	0.0792	L	0.38838	1.175	0.58432	D	0.999996	B;B	0.30634	0.119;0.288	B;B	0.29267	0.067;0.1	T	0.09228	-1.0684	10	0.07990	T	0.79	-29.0378	14.4761	0.67546	0.0:0.0:0.0:1.0	.	113;161	Q969J3-2;Q969J3	.;L12R1_HUMAN	T	142;161;113	ENSP00000443023:M142T;ENSP00000321546:M161T;ENSP00000298571:M113T	ENSP00000298571:M113T	M	+	2	0	LOH12CR1	12509868	1.000000	0.71417	1.000000	0.80357	0.741000	0.42261	7.649000	0.83500	2.151000	0.67156	0.455000	0.32223	ATG		0.607	LOH12CR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400150.1			C	12618601	T	C	12618601	3	2	734	1	0	0	0	0	1	0	0	0	8893	1464	51	3	496	3	LOH12CR1	12	12618601	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	3716138	12618601	121233294	610	42029											
C12orf60	144608	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	14976228	14976228	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:14976228C>T	ENST00000330828.2	+	2	563	c.359C>T	c.(358-360)aCg>aTg	p.T120M	C12orf60_ENST00000527783.1_Intron	NM_175874.3	NP_787070.2	Q5U649	CL060_HUMAN	chromosome 12 open reading frame 60	120										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	9						AGTGCCCATACGCCAGTCATC	0.428																																																0													159	156	157					12																	14976228		2203	4300	6503	SO:0001583	missense	144608			BC038836	CCDS8667.1	12p12.3	2012-08-16			ENSG00000182993	ENSG00000182993			28726	protein-coding gene	gene with protein product						12477932	Standard	NM_175874		Approved	MGC47869	uc001rcj.4	Q5U649	OTTHUMG00000167473	ENST00000330828.2:c.359C>T	12.37:g.14976228C>T	ENSP00000331691:p.Thr120Met		A8K1M7|Q5XKK8|Q8IXY2	Missense_Mutation	SNP	ENST00000330828.2	37	CCDS8667.1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.480950	0.44044	.	.	ENSG00000182993	ENST00000330828	T	0.18174	2.23	4.62	-1.82	0.07857	.	1.310590	0.05203	N	0.505336	T	0.09818	0.0241	L	0.32530	0.975	0.09310	N	1	P	0.37398	0.593	B	0.24701	0.055	T	0.27606	-1.0069	10	0.59425	D	0.04	-5.0763	3.2598	0.06845	0.2825:0.3048:0.0:0.4127	.	120	Q5U649	CL060_HUMAN	M	120	ENSP00000331691:T120M	ENSP00000331691:T120M	T	+	2	0	C12orf60	14867495	0.000000	0.05858	0.001000	0.08648	0.021000	0.10359	-1.809000	0.01731	-0.207000	0.10187	0.561000	0.74099	ACG		0.428	C12orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394735.1	NM_175874		T	14976228	C	T	14976228	3	4	734	1	0	0	0	0	1	0	0	0	1705	536	19	1	361	1	C12orf60	12	14976228	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	2357627	14976228	118875667	611	42030											
ITPR2	3709	hgsc.bcm.edu;ucsc.edu	37	12	26581017	26581017	+	Silent	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:26581017T>C	ENST00000381340.3	-	49	7190	c.6774A>G	c.(6772-6774)acA>acG	p.T2258T		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2258					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)	ATGGAGAAAGTGTACCTGTAA	0.358																																																0													63	57	59					12																	26581017		1845	4093	5938	SO:0001819	synonymous_variant	3709			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.6774A>G	12.37:g.26581017T>C			O94773	Silent	SNP	ENST00000381340.3	37	CCDS41764.1																																																																																				0.358	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		C	26581017	T	C	26581017	2	2	734	1	0	0	0	0	0	0	0	1	7923	1683	59	3		3	ITPR2	12	26581017	Silent	SNP	T	TCGA-KN-8428-01A-11D-2310-10	11604789	26581017	107270878	612	42031											
KLHDC5	57542	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	12	27933686	27933686	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:27933686G>A	ENST00000381271.2	+	1	734	c.423G>A	c.(421-423)ggG>ggA	p.G141G	RP11-860B13.1_ENST00000545904.1_RNA	NM_020782.1	NP_065833.1	Q9P2K6	KLH42_HUMAN	kelch-like family member 42	141					mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of microtubule-based process (GO:0032886)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											AGGTGTACGGGCTGCCCGACC	0.657																																																0													51	55	54					12																	27933686		2203	4300	6503	SO:0001819	synonymous_variant	57542			AB037761	CCDS31763.1	12p11.22	2013-04-24	2013-02-22	2013-01-30	ENSG00000087448	ENSG00000087448		"Kelch-like"	29252	protein-coding gene	gene with protein product			"kelch domain containing 5"	KLHDC5		19261606	Standard	NM_020782		Approved	KIAA1340, Ctb9	uc001rij.3	Q9P2K6	OTTHUMG00000169217	ENST00000381271.2:c.423G>A	12.37:g.27933686G>A			Q2VPK1|Q8N334	Silent	SNP	ENST00000381271.2	37	CCDS31763.1																																																																																				0.657	KLHL42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402904.1	NM_020782		A	27933686	G	A	27933686	2	1	734	1	0	0	0	0	0	0	0	1	8361	1190	42	2		2	KLHDC5	12	27933686	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1352669	27933686	105918209	613	42032											
LRRK2	120892	broad.mit.edu	37	12	40689347	40689347	+	Silent	SNP	C	C	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:40689347C>A	ENST00000298910.7	+	23	3055	c.2997C>A	c.(2995-2997)gcC>gcA	p.A999A	LRRK2_ENST00000343742.2_Silent_p.A999A	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	999					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)				ATATTGATGCCCTAAGCCAGA	0.418																																																0													83	77	79					12																	40689347		2203	4300	6503	SO:0001819	synonymous_variant	120892			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.2997C>A	12.37:g.40689347C>A			A6NJU2|Q6ZS50|Q8NCX9	Silent	SNP	ENST00000298910.7	37	CCDS31774.1																																																																																				0.418	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		A	40689347	C	A	40689347	2	1	734	1	0	0	0	0	0	0	0	1	9035	610	22	4		4	LRRK2	12	40689347	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	12755661	40689347	93162548	614	42033											
TMEM117	84216	broad.mit.edu	37	12	44238507	44238507	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:44238507T>C	ENST00000266534.3	+	2	180	c.53T>C	c.(52-54)gTg>gCg	p.V18A	TMEM117_ENST00000551577.1_Missense_Mutation_p.V18A|TMEM117_ENST00000536799.1_5'Flank	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	18						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		CGCATGATTGTGGCTTACTTG	0.388																																																0													191	191	191					12																	44238507		2203	4300	6503	SO:0001583	missense	84216			BC060798	CCDS8745.1, CCDS73462.1	12q12	2006-02-03				ENSG00000139173			25308	protein-coding gene	gene with protein product						11230166	Standard	NM_001286211		Approved	DKFZp434K2435	uc001rod.3	Q9H0C3	OTTHUMG00000169427	ENST00000266534.3:c.53T>C	12.37:g.44238507T>C	ENSP00000266534:p.Val18Ala			Missense_Mutation	SNP	ENST00000266534.3	37	CCDS8745.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.059810	0.76074	.	.	ENSG00000139173	ENST00000551577;ENST00000266534	T;T	0.56275	0.47;0.47	5.72	5.72	0.89469	.	0.058546	0.64402	D	0.000002	T	0.48660	0.1512	L	0.43152	1.355	0.80722	D	1	P;P	0.39181	0.525;0.663	B;B	0.37731	0.188;0.257	T	0.53493	-0.8431	10	0.66056	D	0.02	-20.8088	16.2962	0.82776	0.0:0.0:0.0:1.0	.	18;18	F8VS00;Q9H0C3	.;TM117_HUMAN	A	18	ENSP00000448595:V18A;ENSP00000266534:V18A	ENSP00000266534:V18A	V	+	2	0	TMEM117	42524774	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.951000	0.87819	2.304000	0.77564	0.528000	0.53228	GTG		0.388	TMEM117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403969.1	NM_032256		C	44238507	T	C	44238507	3	2	734	1	0	0	0	0	1	0	0	0	16036	1696	59	3	55	3	TMEM117	12	44238507	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	3549160	44238507	89613388	615	42034											
HDAC7	51564	broad.mit.edu;ucsc.edu;mdanderson.org	37	12	48185382	48185382	+	Silent	SNP	G	G	A	rs138164422		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:48185382G>A	ENST00000427332.2	-	15	1959	c.1803C>T	c.(1801-1803)aaC>aaT	p.N601N	HDAC7_ENST00000488927.1_5'UTR|HDAC7_ENST00000552960.1_Silent_p.N623N|HDAC7_ENST00000354334.3_Silent_p.N603N|HDAC7_ENST00000380610.4_Silent_p.N657N|HDAC7_ENST00000080059.7_Silent_p.N640N			Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	601	Histone deacetylase.				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)		CCAGCTTCCCGTTGTCCAGTT	0.652																																																0								G	,	1,4405	2.1+/-5.4	0,1,2202	34	35	35		1809,1920	1.3	1	12	dbSNP_134	35	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	HDAC7	NM_001098416.2,NM_015401.3	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	603/955,640/992	48185382	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51564			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.1803C>T	12.37:g.48185382G>A			B3KY08|B4DWI0|B4E0Q5|Q6P1W9|Q6W9G7|Q7Z4K2|Q7Z5I1|Q96K01|Q9BR73|Q9H7L0|Q9NW41|Q9NWA9|Q9NYK9|Q9UFU7	Silent	SNP	ENST00000427332.2	37		.	.	.	.	.	.	.	.	.	.	G	9.279	1.047755	0.19827	2.27E-4	0.0	ENSG00000061273	ENST00000548080	.	.	.	5.23	1.32	0.21799	.	.	.	.	.	T	0.57932	0.2087	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51795	-0.8660	4	.	.	.	.	9.6755	0.40039	0.3745:0.0:0.6255:0.0	.	.	.	.	M	81	.	.	T	-	2	0	HDAC7	46471649	0.996000	0.38824	1.000000	0.80357	0.996000	0.88848	0.288000	0.18939	0.324000	0.23333	0.558000	0.71614	ACG		0.652	HDAC7-013	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000328804.2			A	48185382	G	A	48185382	2	1	734	1	0	0	0	0	0	0	0	1	7014	1136	40	1		1	HDAC7	12	48185382	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	3946875	48185382	85666513	616	42035											
VDR	7421	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	48272845	48272845	+	Missense_Mutation	SNP	G	G	A	rs147496897	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:48272845G>A	ENST00000395324.2	-	3	320	c.52C>T	c.(52-54)Cgg>Tgg	p.R18W	VDR_ENST00000549336.1_Missense_Mutation_p.R18W|VDR_ENST00000229022.3_Missense_Mutation_p.R18W|VDR_ENST00000535672.1_5'UTR|VDR_ENST00000550325.1_Missense_Mutation_p.R68W			P11473	VDR_HUMAN	vitamin D (1,25- dihydroxyvitamin D3) receptor	18					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)	GGCACGTTCCGGTCAAAGTCT	0.587													G|||	2	0.000399361	0.0008	0.0	5008	,	,		12672	0.0		0.0	False		,,,				2504	0.001															0													107	89	95					12																	48272845		2203	4300	6503	SO:0001583	missense	7421			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.52C>T	12.37:g.48272845G>A	ENSP00000378734:p.Arg18Trp		B2R5Q1|G3V1V9|Q5PSV3	Missense_Mutation	SNP	ENST00000395324.2	37	CCDS8757.1	.	.	.	.	.	.	.	.	.	.	G	19.22	3.785656	0.70337	.	.	ENSG00000111424	ENST00000395324;ENST00000229022;ENST00000549336;ENST00000550325;ENST00000546653;ENST00000550314;ENST00000548664	D;D;D;D;D;D;D	0.94537	-3.37;-3.37;-3.37;-3.37;-2.92;-3.45;-3.3	5.58	5.58	0.84498	.	0.134840	0.50627	D	0.000118	D	0.96667	0.8912	M	0.75884	2.315	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.73708	0.918;0.981	D	0.96760	0.9560	10	0.87932	D	0	.	13.1559	0.59516	0.0:0.0:0.8403:0.1597	.	18;68	P11473;G3V1V9	VDR_HUMAN;.	W	18;18;18;68;18;18;18	ENSP00000378734:R18W;ENSP00000229022:R18W;ENSP00000449573:R18W;ENSP00000447173:R68W;ENSP00000448659:R18W;ENSP00000449561:R18W;ENSP00000450105:R18W	ENSP00000229022:R18W	R	-	1	2	VDR	46559112	0.992000	0.36948	1.000000	0.80357	0.937000	0.57800	0.594000	0.24014	2.630000	0.89119	0.655000	0.94253	CGG		0.587	VDR-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406433.1			A	48272845	G	A	48272845	3	1	734	1	0	0	0	0	1	0	0	0	17154	1115	39	1	1263	1	VDR	12	48272845	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	87463	48272845	85579050	617	42036											
RND1	27289	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	12	49251932	49251932	+	Silent	SNP	C	C	T	rs145827381	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:49251932C>T	ENST00000309739.5	-	5	676	c.546G>A	c.(544-546)acG>acA	p.T182T		NM_014470.3	NP_055285.1	Q92730	RND1_HUMAN	Rho family GTPase 1	182					actin filament organization (GO:0007015)|axon guidance (GO:0007411)|GTP catabolic process (GO:0006184)|negative regulation of cell adhesion (GO:0007162)|neuron remodeling (GO:0016322)|small GTPase mediated signal transduction (GO:0007264)	adherens junction (GO:0005912)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(2)|skin(1)|urinary_tract(1)	10						GCATGGATGCCGTCCGAAAGA	0.557													C|||	2	0.000399361	0.0	0.0	5008	,	,		16084	0.002		0.0	False		,,,				2504	0.0															0													123	110	115					12																	49251932		2203	4300	6503	SO:0001819	synonymous_variant	27289			Y07923	CCDS8771.1	12q12	2008-01-23				ENSG00000172602			18314	protein-coding gene	gene with protein product	"ras homolog gene family, member S"	609038				9531558	Standard	NM_014470		Approved	Rho6, ARHS, RHOS	uc001rsn.3	Q92730	OTTHUMG00000170400	ENST00000309739.5:c.546G>A	12.37:g.49251932C>T			A8K9P7	Silent	SNP	ENST00000309739.5	37	CCDS8771.1																																																																																				0.557	RND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408915.1	NM_014470		T	49251932	C	T	49251932	2	4	734	1	0	0	0	0	0	0	0	1	13425	639	23	1		1	RND1	12	49251932	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	979087	49251932	84599963	618	42037											
PRKAG1	5571	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	49396782	49396782	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:49396782C>T	ENST00000548065.1	-	12	1352	c.896G>A	c.(895-897)cGa>cAa	p.R299Q	PRKAG1_ENST00000547306.1_Missense_Mutation_p.R248Q|PRKAG1_ENST00000552212.1_Missense_Mutation_p.R267Q|RP11-386G11.5_ENST00000547395.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA|PRKAG1_ENST00000395170.3_Missense_Mutation_p.R215Q|PRKAG1_ENST00000316299.5_Missense_Mutation_p.R308Q			P54619	AAKG1_HUMAN	protein kinase, AMP-activated, gamma 1 non-catalytic subunit	299	CBS 4. {ECO:0000255|PROSITE- ProRule:PRU00703}.				cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|insulin receptor signaling pathway (GO:0008286)|membrane organization (GO:0061024)|positive regulation of gene expression (GO:0010628)|positive regulation of protein kinase activity (GO:0045860)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of glycolytic process (GO:0006110)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)	p.R299Q(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	9					Acetylsalicylic acid(DB00945)	CACTACAAGTCGGTGAACCTG	0.542																																																1	Substitution - Missense(1)	large_intestine(1)											146	119	128					12																	49396782		2203	4300	6503	SO:0001583	missense	5571			U42412	CCDS8777.1, CCDS55824.1, CCDS55825.1	12q12-q14	1998-07-16				ENSG00000181929			9385	protein-coding gene	gene with protein product		602742				8557660, 8621499	Standard	NM_002733		Approved		uc001rsz.3	P54619	OTTHUMG00000170406	ENST00000548065.1:c.896G>A	12.37:g.49396782C>T	ENSP00000447433:p.Arg299Gln		B4DDT7|Q8N7V9	Missense_Mutation	SNP	ENST00000548065.1	37	CCDS8777.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.526842	0.64860	.	.	ENSG00000181929	ENST00000548362;ENST00000395170;ENST00000547306;ENST00000316299;ENST00000548065;ENST00000552212;ENST00000551770;ENST00000551696	D;D;D;D;D;D;D;D	0.94687	-3.49;-3.49;-3.49;-3.49;-3.49;-3.49;-3.49;-3.49	5.18	4.28	0.50868	Aldolase-type TIM barrel (1);Cystathionine beta-synthase, core (3);	0.056121	0.64402	D	0.000001	D	0.97620	0.9220	M	0.91920	3.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98472	1.0601	10	0.87932	D	0	-4.9987	14.178	0.65555	0.151:0.849:0.0:0.0	.	308;299	Q8N7V9;P54619	.;AAKG1_HUMAN	Q	64;215;248;308;299;267;219;193	ENSP00000446987:R64Q;ENSP00000378599:R215Q;ENSP00000448873:R248Q;ENSP00000323867:R308Q;ENSP00000447433:R299Q;ENSP00000448972:R267Q;ENSP00000449121:R219Q;ENSP00000447671:R193Q	ENSP00000323867:R308Q	R	-	2	0	PRKAG1	47683049	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.574000	0.82434	1.402000	0.46780	0.655000	0.94253	CGA		0.542	PRKAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408946.1	NM_002733		T	49396782	C	T	49396782	3	4	734	1	0	0	0	0	1	0	0	0	12505	884	31	1	103	1	PRKAG1	12	49396782	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	144850	49396782	84455113	619	42038											
PRPF40B	25766	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	50025707	50025707	+	Splice_Site	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:50025707C>T	ENST00000380281.1	+	3	291	c.227C>T	c.(226-228)gCg>gTg	p.A76V	PRPF40B_ENST00000548825.2_Splice_Site_p.A98V|PRPF40B_ENST00000261897.1_Splice_Site_p.A70V			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	76					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						GTCACCGCAGCGGTAAGCACT	0.542																																																0													166	151	156					12																	50025707		2203	4300	6503	SO:0001630	splice_region_variant	25766			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.228+1C>T	12.37:g.50025707C>T			O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Missense_Mutation	SNP	ENST00000380281.1	37		.	.	.	.	.	.	.	.	.	.	C	15.05	2.717180	0.48622	.	.	ENSG00000110844	ENST00000548825;ENST00000261897;ENST00000380281	T;T;T	0.25912	1.77;1.84;1.78	4.86	3.97	0.46021	.	0.196494	0.33834	N	0.004505	T	0.13756	0.0333	N	0.19112	0.55	0.34778	D	0.734407	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.16808	-1.0390	9	.	.	.	-6.4768	6.9653	0.24619	0.0:0.7305:0.1757:0.0938	.	76;70;76	Q6NWY9;Q6NWY9-2;Q6NWY9-3	PR40B_HUMAN;.;.	V	98;70;76	ENSP00000448073:A98V;ENSP00000261897:A70V;ENSP00000369634:A76V	.	A	+	2	0	PRPF40B	48311974	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	0.740000	0.26188	1.401000	0.46761	0.655000	0.94253	GCG		0.542	PRPF40B-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000404838.1	NM_012272	Missense_Mutation	T	50025707	C	T	50025707	5	4	734	1	0	0	0	0	0	0	1	0	12577	782	27	1	237	1	PRPF40B	12	50025707	Splice_Site	SNP	C	TCGA-KN-8428-01A-11D-2310-10	628925	50025707	83826188	620	42039											
NCKAP5L	57701	broad.mit.edu;hgsc.bcm.edu	37	12	50185655	50185655	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:50185655G>A	ENST00000335999.6	-	13	4173	c.3972C>T	c.(3970-3972)taC>taT	p.Y1324Y		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	1320										central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						ACAGCGAGTCGTAGAGTGAGT	0.687																																																0													17	22	21					12																	50185655		2007	4171	6178	SO:0001819	synonymous_variant	57701			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.3972C>T	12.37:g.50185655G>A			Q2TB26|Q71RH1|Q8N4W1|Q96HX2	Silent	SNP	ENST00000335999.6	37	CCDS41781.2																																																																																				0.687	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346884.2	XM_035497		A	50185655	G	A	50185655	2	1	734	1	0	0	0	0	0	0	0	1	10226	1140	40	1		1	NCKAP5L	12	50185655	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	159948	50185655	83666240	621	42040											
TMPRSS12	283471	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	51252617	51252617	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:51252617C>T	ENST00000398458.3	+	3	465	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C	TMPRSS12_ENST00000551456.1_Missense_Mutation_p.R145C	NM_182559.2	NP_872365	Q86WS5	TMPSC_HUMAN	transmembrane (C-terminal) protease, serine 12	145	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	18						TATACATGGACGCTATCCTCA	0.279																																																0													33	31	31					12																	51252617		1815	4071	5886	SO:0001583	missense	283471			BC048112	CCDS44881.1	12q13.12	2014-08-12	2010-04-21		ENSG00000186452	ENSG00000186452		"Serine peptidases / Transmembrane"	28779	protein-coding gene	gene with protein product			"transmembrane protease, serine 12"				Standard	NM_182559		Approved	MGC57341, CT151	uc001rwx.4	Q86WS5	OTTHUMG00000169483	ENST00000398458.3:c.433C>T	12.37:g.51252617C>T	ENSP00000381476:p.Arg145Cys		B9ZVX2	Missense_Mutation	SNP	ENST00000398458.3	37	CCDS44881.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.903861	0.33628	.	.	ENSG00000186452	ENST00000551456;ENST00000398458	D;T	0.89343	-2.5;0.29	5.75	-11.5	0.00074	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	2.367380	0.01447	N	0.015346	D	0.83751	0.5322	L	0.55481	1.735	0.09310	N	1	D;P	0.60160	0.987;0.876	B;B	0.38500	0.275;0.054	T	0.77547	-0.2547	10	0.38643	T	0.18	4.4334	16.6272	0.84974	0.184:0.7002:0.1158:0.0	.	145;145	F8WBX2;Q86WS5	.;TMPSC_HUMAN	C	145	ENSP00000447259:R145C;ENSP00000381476:R145C	ENSP00000381476:R145C	R	+	1	0	TMPRSS12	49538884	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.762000	0.04745	-1.833000	0.01195	-1.120000	0.02017	CGC		0.279	TMPRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404289.1	NM_182559		T	51252617	C	T	51252617	3	4	734	1	0	0	0	0	1	0	0	0	16249	536	19	1	443	1	TMPRSS12	12	51252617	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1066962	51252617	82599278	622	42041											
GALNT6	11226	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	51752021	51752021	+	Nonsense_Mutation	SNP	G	G	A	rs200682302		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:51752021G>A	ENST00000543196.2	-	8	1598	c.1393C>T	c.(1393-1395)Cga>Tga	p.R465*	GALNT6_ENST00000356317.3_Nonsense_Mutation_p.R465*			Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	465					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)	p.R465*(1)		endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						AGCTGCAGTCGTTCCGAAATG	0.468													g|||	1	0.000199681	0.0	0.0	5008	,	,		16880	0.0		0.0	False		,,,				2504	0.001															1	Substitution - Nonsense(1)	skin(1)							stop/ARG	0,4406		0,0,2203	226	189	201		1393	3	0.9	12		201	1,8599	1.2+/-3.3	0,1,4299	yes	stop-gained	GALNT6	NM_007210.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		465/623	51752021	1,13005	2203	4300	6503	SO:0001587	stop_gained	11226			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.1393C>T	12.37:g.51752021G>A	ENSP00000444171:p.Arg465*		Q8IYH4|Q9H6G2|Q9UIV5	Nonsense_Mutation	SNP	ENST00000543196.2	37	CCDS8813.1	.	.	.	.	.	.	.	.	.	.	g	38	7.025785	0.98010	0.0	1.16E-4	ENSG00000139629	ENST00000543196;ENST00000356317;ENST00000546163	.	.	.	3.95	3.05	0.35203	.	0.563076	0.19138	N	0.121749	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.8734	0.46896	0.0:0.0:0.662:0.338	.	.	.	.	X	465;465;446	.	ENSP00000348668:R465X	R	-	1	2	GALNT6	50038288	0.273000	0.24181	0.862000	0.33874	0.948000	0.59901	0.695000	0.25527	1.215000	0.43411	0.457000	0.33378	CGA		0.468	GALNT6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469735.1	NM_007210		A	51752021	G	A	51752021	4	1	734	1	0	0	0	0	0	1	0	0	6219	1153	40	1	491	1	GALNT6	12	51752021	Nonsense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	499404	51752021	82099874	623	42042											
NR4A1	3164	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	52449897	52449897	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:52449897G>A	ENST00000243050.1	+	4	1274	c.960G>A	c.(958-960)caG>caA	p.Q320Q	RP11-1100L3.8_ENST00000564363.1_lincRNA|NR4A1_ENST00000550082.1_Silent_p.Q333Q|NR4A1_ENST00000394825.1_Silent_p.Q320Q|NR4A1_ENST00000360284.3_Silent_p.Q333Q|NR4A1_ENST00000545748.1_Silent_p.Q374Q|NR4A1_ENST00000394824.2_Silent_p.Q320Q	NM_002135.4	NP_002126.2	P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	320					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell chemotaxis (GO:0035767)|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)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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 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)			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		ACCGCTGCCAGTTCTGCCGCT	0.637																																																0													80	77	78					12																	52449897		2203	4300	6503	SO:0001819	synonymous_variant	3164			L13740	CCDS8818.1, CCDS55828.1, CCDS73471.1	12q13	2013-01-16			ENSG00000123358	ENSG00000123358		"Nuclear hormone receptors"	7980	protein-coding gene	gene with protein product		139139		HMR, GFRP1		2626032	Standard	NM_002135		Approved	TR3, N10, NAK-1, NGFIB, NUR77	uc001rzt.3	P22736	OTTHUMG00000150393	ENST00000243050.1:c.960G>A	12.37:g.52449897G>A			B4DML7|Q15627|Q53Y00|Q6IBU8	Silent	SNP	ENST00000243050.1	37	CCDS8818.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.008969	0.54361	.	.	ENSG00000123358	ENST00000550763	T	0.48201	0.82	4.27	3.38	0.38709	.	.	.	.	.	T	0.58694	0.2140	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63301	-0.6668	6	0.72032	D	0.01	.	11.7719	0.51965	0.0893:0.0:0.9107:0.0	.	.	.	.	N	136	ENSP00000449858:S136N	ENSP00000449858:S136N	S	+	2	0	NR4A1	50736164	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.709000	0.47160	1.396000	0.46663	0.561000	0.74099	AGT		0.637	NR4A1-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000317922.2			A	52449897	G	A	52449897	2	1	734	1	0	0	0	0	0	0	0	1	10634	1020	36	2		2	NR4A1	12	52449897	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	697876	52449897	81401998	624	42043											
KRT81	3887	broad.mit.edu;hgsc.bcm.edu	37	12	52681795	52681795	+	Silent	SNP	G	G	A	rs200239075	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:52681795G>A	ENST00000327741.5	-	5	941	c.873C>T	c.(871-873)gcC>gcT	p.A291A	KRT86_ENST00000544024.1_Intron|KRT86_ENST00000423955.2_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	291	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)		ACTCGGCCTCGGCCCGGCTGC	0.562																																																0													97	83	88					12																	52681795		2203	4300	6503	SO:0001819	synonymous_variant	3887			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.873C>T	12.37:g.52681795G>A			Q14846|Q16274|Q17R48|Q8WU52|Q9BR74	Silent	SNP	ENST00000327741.5	37	CCDS31805.1																																																																																				0.562	KRT81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395128.2	NM_002281		A	52681795	G	A	52681795	2	1	734	1	0	0	0	0	0	0	0	1	8497	1103	39	1		1	KRT81	12	52681795	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	231898	52681795	81170100	625	42044	390	2									
KRT81	3887	hgsc.bcm.edu	37	12	52681804	52681804	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:52681804G>A	ENST00000327741.5	-	5	932	c.864C>T	c.(862-864)cgC>cgT	p.R288R	KRT86_ENST00000544024.1_Intron|KRT86_ENST00000423955.2_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	288	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)		CGGCCCGGCTGCGGGTGACAA	0.567																																																0													109	92	98					12																	52681804		2203	4300	6503	SO:0001819	synonymous_variant	3887			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.864C>T	12.37:g.52681804G>A			Q14846|Q16274|Q17R48|Q8WU52|Q9BR74	Silent	SNP	ENST00000327741.5	37	CCDS31805.1																																																																																				0.567	KRT81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395128.2	NM_002281		A	52681804	G	A	52681804	2	1	734	1	0	0	0	0	0	0	0	1	8497	1306	46	2		2	KRT81	12	52681804	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	9	52681804	81170091	626	42045	390	2									
KRT81	3887	hgsc.bcm.edu	37	12	52682214	52682214	+	Silent	SNP	C	C	T	rs141008448	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:52682214C>T	ENST00000327741.5	-	4	734	c.666G>A	c.(664-666)aaG>aaA	p.K222K	KRT86_ENST00000544024.1_Intron|KRT86_ENST00000423955.2_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	222	Coil 1B.|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)		CCAGGTCTGACTTGCGGAGGT	0.622													.|||	11	0.00219649	0.0	0.0	5008	,	,		18781	0.0099		0.0	False		,,,				2504	0.001															0													116	115	116					12																	52682214		2203	4300	6503	SO:0001819	synonymous_variant	3887			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.666G>A	12.37:g.52682214C>T			Q14846|Q16274|Q17R48|Q8WU52|Q9BR74	Silent	SNP	ENST00000327741.5	37	CCDS31805.1																																																																																				0.622	KRT81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395128.2	NM_002281		T	52682214	C	T	52682214	2	4	734	1	0	0	0	0	0	0	0	1	8497	564	20	2		2	KRT81	12	52682214	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	410	52682214	81169681	627	42046											
KRT6C	286887	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	12	52867039	52867039	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:52867039G>A	ENST00000252250.6	-	1	530	c.483C>T	c.(481-483)gcC>gcT	p.A161A		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	161	Head.				intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		CACGCTCCTCGGCCCGCACCC	0.612																																																0													34	25	28					12																	52867039		2187	4104	6291	SO:0001819	synonymous_variant	286887			L42611	CCDS8829.1	12q13.13	2013-01-16	2006-07-17	2006-07-17	ENSG00000170465	ENSG00000170465		"-", "Intermediate filaments type II, keratins (basic)"	20406	protein-coding gene	gene with protein product		612315	"keratin 6E"	KRT6E		7543104, 16831889	Standard	NM_173086		Approved		uc001sal.4	P48668	OTTHUMG00000169596	ENST00000252250.6:c.483C>T	12.37:g.52867039G>A			A1L4L5|P48666|Q2TAZ9|Q7RTN9	Silent	SNP	ENST00000252250.6	37	CCDS8829.1																																																																																				0.612	KRT6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404976.1	NM_173086		A	52867039	G	A	52867039	2	1	734	1	0	0	0	0	0	0	0	1	8484	1103	39	1		1	KRT6C	12	52867039	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	184825	52867039	80984856	628	42047											
KRT6A	3853	mdanderson.org	37	12	52882315	52882315	+	Silent	SNP	G	G	A	rs369027797		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:52882315G>A	ENST00000330722.6	-	7	1289	c.1221C>T	c.(1219-1221)gcC>gcT	p.A407A		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	407	Coil 2.|Rod.				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)		CAGCAATGGCGGCCTGCAGGT	0.557																																																0								G		2,4404	2.1+/-5.4	0,2,2201	71	67	68		1221	-5.9	0.7	12		68	2,8598		0,2,4298	no	coding-synonymous	KRT6A	NM_005554.3		0,4,6499	AA,AG,GG		0.0233,0.0454,0.0308		407/565	52882315	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	3853			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.1221C>T	12.37:g.52882315G>A			A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Silent	SNP	ENST00000330722.6	37	CCDS41786.1																																																																																				0.557	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404978.2	NM_005554		A	52882315	G	A	52882315	2	1	734	1	0	0	0	0	0	0	0	1	8482	1103	39	1		1	KRT6A	12	52882315	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	15276	52882315	80969580	629	42048											
KRT5	3852	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	12	52910639	52910639	+	Silent	SNP	G	G	A	rs539263098		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:52910639G>A	ENST00000252242.4	-	7	1611	c.1221C>T	c.(1219-1221)tgC>tgT	p.C407C		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	407	Coil 2.|Rod.				cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCAGATTGGCGCACTACAGAT	0.572													G|||	1	0.000199681	0.0	0.0	5008	,	,		20701	0.0		0.0	False		,,,				2504	0.001															0													53	49	51					12																	52910639		2203	4300	6503	SO:0001819	synonymous_variant	3852				CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"-", "Intermediate filaments type II, keratins (basic)"	6442	protein-coding gene	gene with protein product		148040	"epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types", "keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.1221C>T	12.37:g.52910639G>A			Q6PI71|Q6UBJ0|Q8TA91	Silent	SNP	ENST00000252242.4	37	CCDS8830.1	.	.	.	.	.	.	.	.	.	.	G	7.163	0.586132	0.13749	.	.	ENSG00000186081	ENST00000548409	.	.	.	5.72	-5.42	0.02640	.	.	.	.	.	T	0.65270	0.2675	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67067	-0.5764	4	.	.	.	.	16.6149	0.84904	0.6611:0.0:0.3389:0.0	.	.	.	.	C	115	.	.	R	-	1	0	KRT5	51196906	0.000000	0.05858	0.889000	0.34880	0.847000	0.48162	-1.493000	0.02298	-0.962000	0.03604	-0.122000	0.15005	CGC		0.572	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405312.1			A	52910639	G	A	52910639	2	1	734	1	0	0	0	0	0	0	0	1	8481	1079	38	1		1	KRT5	12	52910639	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	28324	52910639	80941256	630	42049											
KRT2	3849	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	12	53045674	53045674	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:53045674C>T	ENST00000309680.3	-	1	274	c.253G>A	c.(253-255)Gcc>Acc	p.A85T		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	85	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)		ccaccagcggcgccaaagcca	0.622																																																0													52	37	42					12																	53045674		2203	4300	6503	SO:0001583	missense	3849				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.253G>A	12.37:g.53045674C>T	ENSP00000310861:p.Ala85Thr		Q4VAQ2	Missense_Mutation	SNP	ENST00000309680.3	37	CCDS8835.1	.	.	.	.	.	.	.	.	.	.	C	8.388	0.839044	0.16891	.	.	ENSG00000172867	ENST00000309680	D	0.85629	-2.01	5.27	-3.3	0.05003	.	.	.	.	.	T	0.69333	0.3099	L	0.27053	0.805	0.09310	N	1	B	0.18863	0.031	B	0.11329	0.006	T	0.52208	-0.8606	9	0.22706	T	0.39	.	4.007	0.09605	0.1764:0.4844:0.0701:0.2691	.	85	P35908	K22E_HUMAN	T	85	ENSP00000310861:A85T	ENSP00000310861:A85T	A	-	1	0	KRT2	51331941	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.275000	0.08525	-0.506000	0.06558	-1.373000	0.01185	GCC		0.622	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	NM_000423		T	53045674	C	T	53045674	3	4	734	1	0	0	0	0	1	0	0	0	8459	768	27	1	1702	1	KRT2	12	53045674	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	135035	53045674	80806221	631	42050											
ESPL1	9700	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	12	53663207	53663207	+	Missense_Mutation	SNP	C	C	T	rs145536592		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:53663207C>T	ENST00000257934.4	+	3	572	c.481C>T	c.(481-483)Cgg>Tgg	p.R161W	ESPL1_ENST00000552462.1_Missense_Mutation_p.R161W	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	161					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CCTGTTGGAACGGCGAGCTGC	0.577																																					Colon(53;1069 1201 2587 5382)											0								C	TRP/ARG	0,4406		0,0,2203	78	83	82		481	1.9	0	12	dbSNP_134	82	1,8599	1.2+/-3.3	0,1,4299	no	missense	ESPL1	NM_012291.4	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	161/2121	53663207	1,13005	2203	4300	6503	SO:0001583	missense	9700			D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"separin", "separase", "separin, cysteine protease"	604143	"extra spindle poles like 1 (S. cerevisiae)"			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.481C>T	12.37:g.53663207C>T	ENSP00000257934:p.Arg161Trp			Missense_Mutation	SNP	ENST00000257934.4	37	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	C	10.84	1.465148	0.26335	0.0	1.16E-4	ENSG00000135476	ENST00000257934;ENST00000552462	T;T	0.13778	2.56;2.56	4.89	1.85	0.25348	.	0.549157	0.17944	N	0.156737	T	0.17238	0.0414	L	0.57536	1.79	0.09310	N	1	D	0.62365	0.991	B	0.44315	0.446	T	0.09079	-1.0691	10	0.66056	D	0.02	.	12.8226	0.57702	0.4273:0.5727:0.0:0.0	.	161	Q14674	ESPL1_HUMAN	W	161	ENSP00000257934:R161W;ENSP00000449831:R161W	ENSP00000257934:R161W	R	+	1	2	ESPL1	51949474	0.000000	0.05858	0.007000	0.13788	0.086000	0.17979	0.105000	0.15333	0.279000	0.22186	0.561000	0.74099	CGG		0.577	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		T	53663207	C	T	53663207	3	4	734	1	0	0	0	0	1	0	0	0	5255	527	19	1	487	1	ESPL1	12	53663207	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	617533	53663207	80188688	632	42051											
ESPL1	9700	broad.mit.edu;ucsc.edu;mdanderson.org	37	12	53685530	53685530	+	Silent	SNP	C	C	T	rs527909578		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:53685530C>T	ENST00000257934.4	+	26	5668	c.5577C>T	c.(5575-5577)taC>taT	p.Y1859Y	ESPL1_ENST00000552462.1_Silent_p.Y1859Y	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1859					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CCCTGGCCTACGGGCTGTGCC	0.582													c|||	1	0.000199681	0.0	0.0	5008	,	,		19231	0.0		0.0	False		,,,				2504	0.001				Colon(53;1069 1201 2587 5382)											0													139	137	138					12																	53685530		2203	4300	6503	SO:0001819	synonymous_variant	9700			D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"separin", "separase", "separin, cysteine protease"	604143	"extra spindle poles like 1 (S. cerevisiae)"			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.5577C>T	12.37:g.53685530C>T				Silent	SNP	ENST00000257934.4	37	CCDS8852.1																																																																																				0.582	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		T	53685530	C	T	53685530	2	4	734	1	0	0	0	0	0	0	0	1	5255	547	19	1		1	ESPL1	12	53685530	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	22323	53685530	80166365	633	42052											
TARBP2	7786	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	53895879	53895879	+	5'Flank	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:53895879C>T	ENST00000267079.2	-	0	0				TARBP2_ENST00000456234.2_Missense_Mutation_p.T24M|TARBP2_ENST00000266987.2_Missense_Mutation_p.T45M|RP11-793H13.11_ENST00000602306.1_RNA|TARBP2_ENST00000552857.1_Intron|TARBP2_ENST00000549028.1_3'UTR|TARBP2_ENST00000394357.2_Missense_Mutation_p.T24M|MAP3K12_ENST00000547488.1_5'Flank|MAP3K12_ENST00000547151.1_5'Flank	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						ATAGGGAAGACGCCTGTGTAC	0.597																																																0													105	88	94					12																	53895879		2203	4300	6503	SO:0001631	upstream_gene_variant	6895			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		12.37:g.53895879C>T	Exception_encountered		B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Missense_Mutation	SNP	ENST00000267079.2	37	CCDS8860.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.270886	0.80469	.	.	ENSG00000139546	ENST00000266987;ENST00000456234;ENST00000549610;ENST00000394357	T;T;T	0.76709	-1.04;-1.04;-1.04	3.95	3.95	0.45737	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.86924	0.6050	M	0.73753	2.245	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.998	D	0.87989	0.2748	10	0.52906	T	0.07	-9.0831	15.2673	0.73672	0.0:1.0:0.0:0.0	.	45;45;45	F8VWR8;A8K3X2;Q15633	.;.;TRBP2_HUMAN	M	45;24;45;24	ENSP00000266987:T45M;ENSP00000416077:T24M;ENSP00000377885:T24M	ENSP00000266987:T45M	T	+	2	0	TARBP2	52182146	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.295000	0.78780	2.197000	0.70478	0.467000	0.42956	ACG		0.597	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1	NM_006301		T	53895879	C	T	53895879	1	4	734	0	1	0	0	0	0	0	0	0	15561	536	19	1		1	TARBP2	12	53895879	5'Flank	SNP	C	TCGA-KN-8428-01A-11D-2310-10	210349	53895879	79956016	634	42053											
HOXC13	3229	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	54333126	54333126	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:54333126G>A	ENST00000243056.3	+	1	592	c.436G>A	c.(436-438)Gcc>Acc	p.A146T	HOXC-AS5_ENST00000512916.2_RNA	NM_017410.2	NP_059106.2	P31276	HXC13_HUMAN	homeobox C13	146					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|hair follicle development (GO:0001942)|nail development (GO:0035878)|tongue morphogenesis (GO:0043587)	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(1)|skin(1)	3						GAAGCCTTGCGCCTACCACCC	0.672			T	NUP98	AML																																		Dom	yes		12	12q13.3	3229	homeo box C13		L	0													13	14	14					12																	54333126		2194	4294	6488	SO:0001583	missense	3229				CCDS8865.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123364	ENSG00000123364		"Homeoboxes / ANTP class : HOXL subclass"	5125	protein-coding gene	gene with protein product		142976	"homeo box C13"	HOX3, HOX3G		1973146, 1358459	Standard	NM_017410		Approved		uc001sei.3	P31276	OTTHUMG00000160008	ENST00000243056.3:c.436G>A	12.37:g.54333126G>A	ENSP00000243056:p.Ala146Thr		Q5BL02|Q96J32|Q9NR24|Q9NYD5	Missense_Mutation	SNP	ENST00000243056.3	37	CCDS8865.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.768156	0.49680	.	.	ENSG00000123364	ENST00000243056	T	0.54071	0.59	2.87	0.899	0.19271	.	0.439557	0.22602	N	0.057946	T	0.36082	0.0954	L	0.34521	1.04	0.31154	N	0.705187	B	0.33238	0.403	B	0.28784	0.094	T	0.35992	-0.9766	10	0.46703	T	0.11	.	9.9089	0.41392	0.0:0.0:0.3313:0.6687	.	146	P31276	HXC13_HUMAN	T	146	ENSP00000243056:A146T	ENSP00000243056:A146T	A	+	1	0	HOXC13	52619393	1.000000	0.71417	0.996000	0.52242	0.978000	0.69477	1.192000	0.32150	0.241000	0.21283	0.313000	0.20887	GCC		0.672	HOXC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358865.2			A	54333126	G	A	54333126	3	1	734	1	0	0	0	0	1	0	0	0	7314	1087	38	1	438	1	HOXC13	12	54333126	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	437247	54333126	79518769	635	42054											
ITGA7	3679	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	56090778	56090778	+	Missense_Mutation	SNP	G	G	A	rs146411608		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:56090778G>A	ENST00000555728.1	-	13	1802	c.1774C>T	c.(1774-1776)Cgt>Tgt	p.R592C	ITGA7_ENST00000347027.6_Missense_Mutation_p.R542C|ITGA7_ENST00000394230.2_Missense_Mutation_p.R552C|ITGA7_ENST00000452168.2_Missense_Mutation_p.R455C|ITGA7_ENST00000257880.7_Missense_Mutation_p.R592C|ITGA7_ENST00000257879.6_Missense_Mutation_p.R548C|ITGA7_ENST00000553804.1_Missense_Mutation_p.R552C|ITGA7_ENST00000394229.2_Missense_Mutation_p.R548C			Q13683	ITA7_HUMAN	integrin, alpha 7	592					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						TCCAGGTTACGGCTCAGGAAC	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		17775	0.001		0.0	False		,,,				2504	0.0															0													71	62	65					12																	56090778		2203	4300	6503	SO:0001583	missense	3679				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.1774C>T	12.37:g.56090778G>A	ENSP00000452387:p.Arg592Cys		B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Missense_Mutation	SNP	ENST00000555728.1	37		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	23.0	4.361745	0.82353	.	.	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000257880;ENST00000394230;ENST00000394229;ENST00000353687;ENST00000555728	T;T;T;T;T;T;T;T	0.71698	-0.57;-0.57;-0.59;-0.11;-0.55;-0.55;-0.56;-0.55	4.41	4.41	0.53225	Integrin alpha-2 (1);	0.070371	0.56097	D	0.000023	T	0.81809	0.4901	M	0.65498	2.005	0.80722	D	1	D;D;D;D	0.89917	0.993;0.995;0.984;1.0	P;P;P;D	0.72075	0.663;0.773;0.761;0.976	D	0.84193	0.0446	10	0.72032	D	0.01	.	14.8887	0.70590	0.0:0.0:1.0:0.0	.	455;592;552;611	Q13683-13;Q13683;Q13683-3;Q4LE35	.;ITA7_HUMAN;.;.	C	552;548;542;455;592;552;548;592;592	ENSP00000452120:R552C;ENSP00000257879:R548C;ENSP00000343009:R542C;ENSP00000393844:R455C;ENSP00000257880:R592C;ENSP00000377777:R552C;ENSP00000377776:R548C;ENSP00000452387:R592C	ENSP00000257879:R548C	R	-	1	0	ITGA7	54377045	1.000000	0.71417	0.977000	0.42913	0.666000	0.39218	4.398000	0.59697	2.180000	0.69256	0.561000	0.74099	CGT		0.617	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206		A	56090778	G	A	56090778	3	1	734	1	0	0	0	0	1	0	0	0	7883	1116	39	1	1827	1	ITGA7	12	56090778	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1757652	56090778	77761117	636	42055											
GDF11	10220	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	12	56142583	56142583	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:56142583G>A	ENST00000257868.5	+	2	696	c.659G>A	c.(658-660)cGt>cAt	p.R220H		NM_005811.3	NP_005802.1	O95390	GDF11_HUMAN	growth differentiation factor 11	220					camera-type eye morphogenesis (GO:0048593)|cell maturation (GO:0048469)|growth (GO:0040007)|mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|palate development (GO:0060021)|pancreas development (GO:0031016)|skeletal system development (GO:0001501)|spinal cord anterior/posterior patterning (GO:0021512)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)|protein complex (GO:0043234)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|urinary_tract(1)	12						CGTCACATCCGTATCCGCTCA	0.612																																																0													51	41	45					12																	56142583		2203	4300	6503	SO:0001583	missense	10220			AF100907	CCDS8891.1	12q13.13	2008-08-01							4216	protein-coding gene	gene with protein product		603936				15988002	Standard	NM_005811		Approved	BMP-11	uc001shq.3	O95390		ENST00000257868.5:c.659G>A	12.37:g.56142583G>A	ENSP00000257868:p.Arg220His		Q9UID1|Q9UID2	Missense_Mutation	SNP	ENST00000257868.5	37	CCDS8891.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.67|16.67	3.187468|3.187468	0.57909|0.57909	.|.	.|.	ENSG00000135414|ENSG00000135414	ENST00000257868|ENST00000546799	T|.	0.65364|.	-0.15|.	4.75|4.75	4.75|4.75	0.60458|0.60458	Transforming growth factor-beta, N-terminal (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73690|0.73690	0.3619|0.3619	M|M	0.73217|0.73217	2.22|2.22	0.58432|0.58432	D|D	0.999999|0.999999	P|.	0.39282|.	0.666|.	B|.	0.42245|.	0.381|.	T|T	0.74318|0.74318	-0.3704|-0.3704	10|5	0.45353|.	T|.	0.12|.	-5.14|-5.14	15.6178|15.6178	0.76780|0.76780	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	220|.	O95390|.	GDF11_HUMAN|.	H|I	220|193	ENSP00000257868:R220H|.	ENSP00000257868:R220H|.	R|V	+|+	2|1	0|0	GDF11|GDF11	54428850|54428850	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.062000|8.062000	0.89475|0.89475	2.380000|2.380000	0.81148|0.81148	0.555000|0.555000	0.69702|0.69702	CGT|GTA		0.612	GDF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407842.3			A	56142583	G	A	56142583	3	1	734	1	0	0	0	0	1	0	0	0	6314	1145	40	1	665	1	GDF11	12	56142583	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	51805	56142583	77709312	637	42056											
ERBB3	2065	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	56478809	56478809	+	Missense_Mutation	SNP	G	G	A	rs77228285		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:56478809G>A	ENST00000267101.3	+	3	705	c.265G>A	c.(265-267)Gtg>Atg	p.V89M	ERBB3_ENST00000411731.2_Missense_Mutation_p.V89M|ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.V30M	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	89					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CTATGTCCTCGTGGCCATGAA	0.483																																																0													168	140	149					12																	56478809		2203	4300	6503	SO:0001583	missense	2065			M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"lethal congenital contracture syndrome 2"	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.265G>A	12.37:g.56478809G>A	ENSP00000267101:p.Val89Met		A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.726333	0.69074	.	.	ENSG00000065361	ENST00000549282;ENST00000549061;ENST00000267101;ENST00000394099;ENST00000411731;ENST00000549672;ENST00000415288	D;D;D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56;-1.56;-1.56	5.82	4.75	0.60458	EGF receptor, L domain (1);	0.125118	0.37577	N	0.002023	D	0.85461	0.5702	L	0.46819	1.47	0.80722	D	1	D;D	0.89917	0.981;1.0	P;D	0.67900	0.507;0.954	D	0.85354	0.1103	10	0.87932	D	0	.	7.8034	0.29187	0.217:0.0:0.783:0.0	.	89;89	P21860;P21860-2	ERBB3_HUMAN;.	M	89;30;89;89;89;30;30	ENSP00000448636:V89M;ENSP00000449138:V30M;ENSP00000267101:V89M;ENSP00000415753:V89M;ENSP00000449713:V30M;ENSP00000408340:V30M	ENSP00000267101:V89M	V	+	1	0	ERBB3	54765076	0.993000	0.37304	0.972000	0.41901	0.852000	0.48524	2.658000	0.46733	2.748000	0.94277	0.655000	0.94253	GTG		0.483	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			A	56478809	G	A	56478809	3	1	734	1	0	0	0	0	1	0	0	0	5210	1145	40	1	275	1	ERBB3	12	56478809	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	336226	56478809	77373086	638	42057											
ANKRD52	283373	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	56648376	56648376	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:56648376G>A	ENST00000267116.7	-	7	800	c.679C>T	c.(679-681)Cgg>Tgg	p.R227W		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	227										endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						GCTCCCATCCGAAGCAGGTAC	0.567																																																0													41	42	41					12																	56648376		1982	4173	6155	SO:0001583	missense	283373			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.679C>T	12.37:g.56648376G>A	ENSP00000267116:p.Arg227Trp		A6NE79|B1Q2K2	Missense_Mutation	SNP	ENST00000267116.7	37	CCDS44920.1	.	.	.	.	.	.	.	.	.	.	G	19.34	3.808497	0.70797	.	.	ENSG00000139645	ENST00000267116;ENST00000417002	T	0.65364	-0.15	4.85	4.85	0.62838	Ankyrin repeat-containing domain (4);	0.058570	0.64402	D	0.000005	T	0.74261	0.3693	M	0.73319	2.225	0.51482	D	0.99992	D	0.71674	0.998	D	0.64410	0.925	T	0.76515	-0.2931	10	0.87932	D	0	.	10.8398	0.46708	0.0:0.0:0.7084:0.2916	.	227	Q8NB46	ANR52_HUMAN	W	227	ENSP00000267116:R227W	ENSP00000267116:R227W	R	-	1	2	ANKRD52	54934643	0.011000	0.17503	1.000000	0.80357	0.989000	0.77384	1.099000	0.31013	2.688000	0.91661	0.655000	0.94253	CGG		0.567	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1	NM_173595		A	56648376	G	A	56648376	3	1	734	1	0	0	0	0	1	0	0	0	678	1057	37	1	2639	1	ANKRD52	12	56648376	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	169567	56648376	77203519	639	42058											
NACA	4666	ucsc.edu;mdanderson.org	37	12	57114975	57114975	+	Silent	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:57114975T>C	ENST00000454682.1	-	3	620	c.339A>G	c.(337-339)ccA>ccG	p.P113P	NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000550952.1_Silent_p.P113P	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	113	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						CTAAGGCAGCTGGGGAGATGG	0.567			T	BCL6	NHL																																		Dom	yes		12	12q23-q24.1	4666	nascent-polypeptide-associated complex alpha polypeptide		L	0													66	66	66					12																	57114975		1568	3582	5150	SO:0001819	synonymous_variant	4666			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.339A>G	12.37:g.57114975T>C				Silent	SNP	ENST00000454682.1	37																																																																																					0.567	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		C	57114975	T	C	57114975	2	2	734	1	0	0	0	0	0	0	0	1	10135	1567	55	3		3	NACA	12	57114975	Silent	SNP	T	TCGA-KN-8428-01A-11D-2310-10	466599	57114975	76736920	640	42059											
R3HDM2	22864	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	57693939	57693939	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:57693939C>T	ENST00000347140.3	-	5	623	c.233G>A	c.(232-234)cGt>cAt	p.R78H	R3HDM2_ENST00000402412.1_Missense_Mutation_p.R78H|R3HDM2_ENST00000403821.2_Missense_Mutation_p.R78H|R3HDM2_ENST00000358907.2_Missense_Mutation_p.R78H			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	78						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						TGCCAGGCTACGCACCAACTT	0.403																																																0													59	51	53					12																	57693939		692	1591	2283	SO:0001583	missense	22864			AB023219	CCDS8937.2	12q13.3	2012-11-19			ENSG00000179912	ENSG00000179912			29167	protein-coding gene	gene with protein product							Standard	NM_014925		Approved	KIAA1002	uc009zpm.1	Q9Y2K5	OTTHUMG00000171568	ENST00000347140.3:c.233G>A	12.37:g.57693939C>T	ENSP00000317903:p.Arg78His		Q2M1T9|Q3ZCT5	Missense_Mutation	SNP	ENST00000347140.3	37	CCDS8937.2	.	.	.	.	.	.	.	.	.	.	C	33	5.259207	0.95368	.	.	ENSG00000179912	ENST00000347140;ENST00000402412;ENST00000358907;ENST00000403821	T;T;T;T	0.58358	0.54;0.34;0.54;0.61	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.69780	0.3149	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.991	T	0.71813	-0.4479	10	0.87932	D	0	-8.834	17.6848	0.88254	0.0:1.0:0.0:0.0	.	78;78	B5MCU0;Q9Y2K5	.;R3HD2_HUMAN	H	78	ENSP00000317903:R78H;ENSP00000385839:R78H;ENSP00000351784:R78H;ENSP00000385169:R78H	ENSP00000317903:R78H	R	-	2	0	R3HDM2	55980206	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	7.567000	0.82357	2.785000	0.95823	0.591000	0.81541	CGT		0.403	R3HDM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326570.2	NM_014925		T	57693939	C	T	57693939	3	4	734	1	0	0	0	0	1	0	0	0	12894	536	19	1	2777	1	R3HDM2	12	57693939	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	578964	57693939	76157956	641	42060											
CYP27B1	1594	ucsc.edu;mdanderson.org	37	12	58160795	58160795	+	Missense_Mutation	SNP	T	T	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:58160795T>G	ENST00000228606.4	-	1	239	c.30A>C	c.(28-30)agA>agC	p.R10S	CYP27B1_ENST00000546496.1_5'Flank	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	10					bone mineralization (GO:0030282)|calcitriol biosynthetic process from calciol (GO:0036378)|calcium ion homeostasis (GO:0055074)|calcium ion transport (GO:0006816)|decidualization (GO:0046697)|G1 to G0 transition (GO:0070314)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of bone mineralization (GO:0030500)|response to estrogen (GO:0043627)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	calcidiol 1-monooxygenase activity (GO:0004498)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Alfacalcidol(DB01436)|Calcidiol(DB00146)|Corticotropin(DB01285)|Ergocalciferol(DB00153)	GATGGAACACTCTGGAGGCGT	0.597																																																0													81	96	91					12																	58160795		2203	4300	6503	SO:0001583	missense	1594			AB006987	CCDS8954.1	12q14.1	2013-11-13	2003-01-14		ENSG00000111012	ENSG00000111012		"Cytochrome P450s"	2606	protein-coding gene	gene with protein product	"VDDR I", "1alpha(OH)ase", "25-Hydroxyvitamin D3 1alpha-hydroxylase"	609506	"cytochrome P450, subfamily XXVIIB (25-hydroxyvitamin D-1-alpha-hydroxylase), polypeptide 1"	VDD1, PDDR		9295274, 9344864	Standard	NM_000785		Approved	CYP1, P450c1	uc001spz.1	O15528	OTTHUMG00000170457	ENST00000228606.4:c.30A>C	12.37:g.58160795T>G	ENSP00000228606:p.Arg10Ser		B2RC61|Q548T3	Missense_Mutation	SNP	ENST00000228606.4	37	CCDS8954.1	.	.	.	.	.	.	.	.	.	.	T	14.50	2.553432	0.45487	.	.	ENSG00000111012	ENST00000228606	T	0.77098	-1.07	5.26	-3.2	0.05156	.	0.400045	0.25285	N	0.031768	T	0.47021	0.1423	N	0.08118	0	0.09310	N	1	B	0.32573	0.376	B	0.26770	0.073	T	0.51988	-0.8635	10	0.07175	T	0.84	.	10.5905	0.45306	0.0:0.622:0.1134:0.2646	.	10	O15528	CP27B_HUMAN	S	10	ENSP00000228606:R10S	ENSP00000228606:R10S	R	-	3	2	CYP27B1	56447062	0.234000	0.23783	0.002000	0.10522	0.031000	0.12232	-0.194000	0.09559	-1.300000	0.02341	-1.937000	0.00501	AGA		0.597	CYP27B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409248.1	NM_000785		G	58160795	T	G	58160795	3	3	734	1	0	0	0	0	1	0	0	0	4161	1548	54	5	1532	5	CYP27B1	12	58160795	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	466856	58160795	75691100	642	42061											
DYRK2	8445	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	12	68052183	68052183	+	Missense_Mutation	SNP	C	C	T	rs138614034	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:68052183C>T	ENST00000344096.3	+	3	1909	c.1496C>T	c.(1495-1497)gCg>gTg	p.A499V	DYRK2_ENST00000393555.3_Missense_Mutation_p.A426V|RP11-335O4.3_ENST00000425371.2_RNA	NM_006482.2	NP_006473.2	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2	499	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of NFAT protein import into nucleus (GO:0051534)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of glycogen biosynthetic process (GO:0045725)|protein phosphorylation (GO:0006468)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		TGGGGGAACGCGCTGAAGGGG	0.587																																																0								C	VAL/ALA,VAL/ALA	0,4406		0,0,2203	58	62	60		1277,1496	5.2	1	12	dbSNP_134	60	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense	DYRK2	NM_003583.3,NM_006482.2	64,64	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	probably-damaging,probably-damaging	426/529,499/602	68052183	4,13002	2203	4300	6503	SO:0001583	missense	8445			Y09216	CCDS8978.1, CCDS8979.1	12q15	2008-07-03				ENSG00000127334			3093	protein-coding gene	gene with protein product		603496				9748265	Standard	NM_003583		Approved		uc001str.4	Q92630		ENST00000344096.3:c.1496C>T	12.37:g.68052183C>T	ENSP00000342105:p.Ala499Val		B2R9V9|Q9BRB5	Missense_Mutation	SNP	ENST00000344096.3	37	CCDS8978.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.356088	0.41700	0.0	4.65E-4	ENSG00000127334	ENST00000344096;ENST00000393555	T;T	0.68025	-0.3;-0.28	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	0.64800	0.2631	N	0.12471	0.22	0.80722	D	1	D	0.64830	0.994	P	0.58013	0.831	T	0.63677	-0.6583	9	.	.	.	.	19.5702	0.95409	0.0:1.0:0.0:0.0	.	499	Q92630	DYRK2_HUMAN	V	499;426	ENSP00000342105:A499V;ENSP00000377186:A426V	.	A	+	2	0	DYRK2	66338450	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	7.776000	0.85560	2.800000	0.96347	0.455000	0.32223	GCG		0.587	DYRK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402218.1			T	68052183	C	T	68052183	3	4	734	1	0	0	0	0	1	0	0	0	4858	768	27	1	1506	1	DYRK2	12	68052183	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	9891388	68052183	65799712	643	42062											
CPSF6	11052	broad.mit.edu;ucsc.edu	37	12	69656278	69656278	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:69656278G>A	ENST00000435070.2	+	9	1705	c.1595G>A	c.(1594-1596)cGg>cAg	p.R532Q	CPSF6_ENST00000266679.8_Missense_Mutation_p.R569Q|CPSF6_ENST00000456847.3_Missense_Mutation_p.R459Q|CPSF6_ENST00000551516.1_Missense_Mutation_p.G35R	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	532	Arg-rich.|Sufficient for nuclear targeting.				mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			GAGAGGCACCGGGATcgtgac	0.493																																																0													197	143	161					12																	69656278		2203	4300	6503	SO:0001583	missense	11052			X67336	CCDS8988.1, CCDS73494.1	12q15	2013-06-18	2002-08-29			ENSG00000111605		"RNA binding motif (RRM) containing"	13871	protein-coding gene	gene with protein product	"cleavage factor Im complex 68 kDa subunit"	604979	"cleavage and polyadenylation specific factor 6, 68kD subunit"			9659921, 17267687	Standard	NM_007007		Approved	CFIM, HPBRII-4, HPBRII-7, CFIM68	uc001sut.4	Q16630		ENST00000435070.2:c.1595G>A	12.37:g.69656278G>A	ENSP00000391774:p.Arg532Gln		A8K7K9|Q53ES1|Q9BSJ7|Q9BW18	Missense_Mutation	SNP	ENST00000435070.2	37	CCDS8988.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.6|25.6	4.650795|4.650795	0.87958|0.87958	.|.	.|.	ENSG00000111605|ENSG00000111605	ENST00000551516|ENST00000435070;ENST00000456847;ENST00000266679	.|T;T;T	.|0.73681	.|-0.77;-0.77;-0.77	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.76300|0.76300	0.3968|0.3968	M|M	0.74467|0.74467	2.265|2.265	0.40144|0.40144	D|D	0.976867|0.976867	.|P;D;D	.|0.56968	.|0.78;0.978;0.962	.|B;B;B	.|0.41412	.|0.022;0.356;0.194	T|T	0.79001|0.79001	-0.1981|-0.1981	5|9	.|.	.|.	.|.	-6.2025|-6.2025	19.9178|19.9178	0.97067|0.97067	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|281;569;532	.|B4DSU9;Q16630-2;Q16630	.|.;.;CPSF6_HUMAN	R|Q	35|532;459;569	.|ENSP00000391774:R532Q;ENSP00000391437:R459Q;ENSP00000266679:R569Q	.|.	G|R	+|+	1|2	0|0	CPSF6|CPSF6	67942545|67942545	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	9.869000|9.869000	0.99810|0.99810	2.880000|2.880000	0.98712|0.98712	0.650000|0.650000	0.86243|0.86243	GGG|CGG		0.493	CPSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403609.1	NM_007007		A	69656278	G	A	69656278	3	1	734	1	0	0	0	0	1	0	0	0	3831	1116	39	1	1629	1	CPSF6	12	69656278	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1604095	69656278	64195617	644	42063											
OSBPL8	114882	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	76780412	76780412	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:76780412G>A	ENST00000261183.3	-	13	1860	c.1381C>T	c.(1381-1383)Cgt>Tgt	p.R461C	OSBPL8_ENST00000393249.2_Missense_Mutation_p.R419C|OSBPL8_ENST00000393250.4_Missense_Mutation_p.R419C	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	461					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						TTCTTCAAACGGAAATAAGGA	0.274																																																0													60	66	64					12																	76780412		2202	4283	6485	SO:0001583	missense	114882			AF392452	CCDS31862.1, CCDS41814.1	12q14	2013-01-10				ENSG00000091039		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16396	protein-coding gene	gene with protein product		606736				1735225, 17991739	Standard	NM_020841		Approved	OSBP10, ORP8, MST120, MSTP120	uc001sye.1	Q9BZF1		ENST00000261183.3:c.1381C>T	12.37:g.76780412G>A	ENSP00000261183:p.Arg461Cys		A8K1T2|E9PE66|E9PE68|Q52LQ3|Q68D75|Q8WXP8|Q9P277	Missense_Mutation	SNP	ENST00000261183.3	37	CCDS31862.1	.	.	.	.	.	.	.	.	.	.	G	32	5.159090	0.94686	.	.	ENSG00000091039	ENST00000393249;ENST00000261183;ENST00000446075;ENST00000393250;ENST00000438913;ENST00000547540;ENST00000546946	T;T;T;T;T	0.61274	0.12;0.12;0.12;0.12;0.12	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.85182	0.5638	H	0.97131	3.945	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89625	0.3851	10	0.87932	D	0	-12.342	19.8585	0.96775	0.0:0.0:1.0:0.0	.	436;461	F8VUA7;Q9BZF1	.;OSBL8_HUMAN	C	419;461;446;419;461;461;436	ENSP00000376939:R419C;ENSP00000261183:R461C;ENSP00000376940:R419C;ENSP00000450238:R461C;ENSP00000447893:R436C	ENSP00000261183:R461C	R	-	1	0	OSBPL8	75304543	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.021000	0.70832	2.760000	0.94817	0.655000	0.94253	CGT		0.274	OSBPL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406357.1	NM_020841		A	76780412	G	A	76780412	3	1	734	1	0	0	0	0	1	0	0	0	11285	1116	39	1	1336	1	OSBPL8	12	76780412	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	7124134	76780412	57071483	645	42064											
ZDHHC17	23390	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	77222268	77222268	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:77222268A>G	ENST00000426126.2	+	10	1788	c.1139A>G	c.(1138-1140)aAt>aGt	p.N380S	ZDHHC17_ENST00000334822.5_Missense_Mutation_p.N380S	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	380					lipoprotein transport (GO:0042953)|magnesium ion transport (GO:0015693)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein palmitoylation (GO:0018345)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|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)	identical protein binding (GO:0042802)|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)			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						TGGTTTTGGAATGATATCCTT	0.328																																																0													266	251	255					12																	77222268		1827	4076	5903	SO:0001583	missense	23390			AB023163	CCDS44946.1	12q21.2	2013-01-10				ENSG00000186908		"Zinc fingers, DHHC-type", "Ankyrin repeat domain containing"	18412	protein-coding gene	gene with protein product		607799				9700202, 18794299	Standard	NM_015336		Approved	HIP14, HYPH, KIAA0946	uc001syk.1	Q8IUH5	OTTHUMG00000169917	ENST00000426126.2:c.1139A>G	12.37:g.77222268A>G	ENSP00000403397:p.Asn380Ser		B4DR39|O75407|Q7Z2I0|Q86W89|Q86YK0|Q9P088|Q9UPZ8	Missense_Mutation	SNP	ENST00000426126.2	37	CCDS44946.1	.	.	.	.	.	.	.	.	.	.	A	13.87	2.367365	0.41902	.	.	ENSG00000186908	ENST00000426126;ENST00000334822	T;T	0.31769	1.48;1.48	5.72	5.72	0.89469	.	6.143080	0.00919	N	0.002577	T	0.21841	0.0526	N	0.03608	-0.345	0.80722	D	1	B	0.22414	0.069	B	0.18263	0.021	T	0.03453	-1.1035	10	0.25751	T	0.34	16.3248	16.0023	0.80306	1.0:0.0:0.0:0.0	.	380	Q8IUH5	ZDH17_HUMAN	S	380	ENSP00000403397:N380S;ENSP00000334868:N380S	ENSP00000334868:N380S	N	+	2	0	ZDHHC17	75746399	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.269000	0.78482	2.177000	0.69029	0.533000	0.62120	AAT		0.328	ZDHHC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406555.1	NM_015336		G	77222268	A	G	77222268	3	3	734	1	0	0	0	0	1	0	0	0	17612	101	4	3	1177	3	ZDHHC17	12	77222268	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	441856	77222268	56629627	646	42065											
ATP2B1	490	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	12	89992451	89992451	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:89992451C>T	ENST00000359142.3	-	20	3645	c.3421G>A	c.(3421-3423)Gcc>Acc	p.A1141T	ATP2B1_ENST00000261173.2_Intron|ATP2B1_ENST00000348959.3_Intron|ATP2B1_ENST00000428670.3_Intron|ATP2B1_ENST00000393164.2_Intron	NM_001001323.1	NP_001001323.1	P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	1141					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						TGCTGGCTGGCGATGGAGGGT	0.478																																																0													200	199	199					12																	89992451		1985	4168	6153	SO:0001583	missense	490			J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"ATPases / P-type"	814	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 1"	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000359142.3:c.3421G>A	12.37:g.89992451C>T	ENSP00000352054:p.Ala1141Thr		Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Missense_Mutation	SNP	ENST00000359142.3	37	CCDS41817.1	.	.	.	.	.	.	.	.	.	.	C	6.580	0.475408	0.12521	.	.	ENSG00000070961	ENST00000359142	T	0.78481	-1.18	5.77	5.77	0.91146	.	.	.	.	.	T	0.53334	0.1790	N	0.01729	-0.75	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.58629	-0.7603	9	0.02654	T	1	.	19.9855	0.97347	0.0:1.0:0.0:0.0	.	1141	P20020-2	.	T	1141	ENSP00000352054:A1141T	ENSP00000352054:A1141T	A	-	1	0	ATP2B1	88516582	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.028000	0.64115	2.715000	0.92844	0.655000	0.94253	GCC		0.478	ATP2B1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000406652.1	NM_001682		T	89992451	C	T	89992451	3	4	734	1	0	0	0	0	1	0	0	0	1139	768	27	1	403	1	ATP2B1	12	89992451	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	12770183	89992451	43859444	647	42066											
VEZT	55591	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	12	95694384	95694384	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:95694384A>G	ENST00000436874.1	+	12	2380	c.2275A>G	c.(2275-2277)Act>Gct	p.T759A	VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_Missense_Mutation_p.T711A	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	759					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						GCAGGAACAGACTTTTGGTGG	0.413																																																0													48	45	46					12																	95694384		1875	4107	5982	SO:0001583	missense	55591			AF216644	CCDS44954.1	12q22	2011-02-15			ENSG00000028203	ENSG00000028203			18258	protein-coding gene	gene with protein product						11080149, 16199027, 21156161	Standard	NM_017599		Approved	DKFZP761C241	uc001tdz.2	Q9HBM0	OTTHUMG00000170182	ENST00000436874.1:c.2275A>G	12.37:g.95694384A>G	ENSP00000410083:p.Thr759Ala		Q6P1Q3|Q9H2F4|Q9H2U5|Q9NT70|Q9NVW0|Q9UF91	Missense_Mutation	SNP	ENST00000436874.1	37	CCDS44954.1	.	.	.	.	.	.	.	.	.	.	A	15.41	2.825883	0.50739	.	.	ENSG00000028203	ENST00000436874;ENST00000261219;ENST00000397792;ENST00000397796	T;T;T	0.31769	1.48;1.48;1.49	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.54743	0.1877	M	0.66939	2.045	0.54753	D	0.999984	D	0.76494	0.999	D	0.78314	0.991	T	0.57808	-0.7747	10	0.72032	D	0.01	-16.7085	15.8862	0.79251	1.0:0.0:0.0:0.0	.	759	Q9HBM0	VEZA_HUMAN	A	759;711;715;759	ENSP00000410083:T759A;ENSP00000261219:T711A;ENSP00000380894:T715A	ENSP00000261219:T711A	T	+	1	0	VEZT	94218515	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	7.704000	0.84595	2.150000	0.67090	0.528000	0.53228	ACT		0.413	VEZT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407804.2	NM_017599		G	95694384	A	G	95694384	3	3	734	1	0	0	0	0	1	0	0	0	17161	275	10	3	2321	3	VEZT	12	95694384	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	5701933	95694384	38157511	648	42067											
TMPO	7112	bcgsc.ca	37	12	98931296	98931296	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:98931296G>T	ENST00000556029.1	+	4	965	c.609G>T	c.(607-609)aaG>aaT	p.K203N	TMPO_ENST00000261210.5_Missense_Mutation_p.K203N|TMPO_ENST00000343315.5_Missense_Mutation_p.K203N|TMPO_ENST00000393053.2_Missense_Mutation_p.K203N	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin	203	NAKAP95-binding N.|Nucleoplasmic. {ECO:0000255}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)|lamin binding (GO:0005521)			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AACCACTAAAGGGCAGAGCAA	0.383																																																0													94	88	90					12																	98931296		2203	4300	6503	SO:0001583	missense	7112				CCDS9064.1, CCDS31879.1, CCDS31880.1	12q22	2014-09-17			ENSG00000120802	ENSG00000120802			11875	protein-coding gene	gene with protein product	"LEM domain containing 4"	188380				7517549	Standard	NM_003276		Approved	TP, LAP2, LEMD4	uc001tfh.2	P42166	OTTHUMG00000170210	ENST00000556029.1:c.609G>T	12.37:g.98931296G>T	ENSP00000450627:p.Lys203Asn		A2T926|Q14861	Missense_Mutation	SNP	ENST00000556029.1	37	CCDS31879.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.024802	0.75390	.	.	ENSG00000120802	ENST00000556029;ENST00000343315;ENST00000393053;ENST00000261210;ENST00000556678	T;T;T;T;T	0.74632	-0.04;0.26;-0.21;-0.86;-0.81	5.56	1.19	0.21007	.	.	.	.	.	T	0.79185	0.4403	L	0.47716	1.5	0.27883	N	0.939617	D;D;D	0.76494	0.999;0.972;0.997	D;P;P	0.63488	0.915;0.724;0.879	T	0.70923	-0.4740	9	0.72032	D	0.01	.	11.5403	0.50663	0.3536:0.0:0.6464:0.0	.	236;203;203	Q59G12;P42167;A2T926	.;LAP2B_HUMAN;.	N	203;203;203;203;110	ENSP00000450627:K203N;ENSP00000340251:K203N;ENSP00000376773:K203N;ENSP00000261210:K203N;ENSP00000451552:K110N	ENSP00000261210:K203N	K	+	3	2	TMPO	97455427	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	0.399000	0.20916	0.320000	0.23234	0.650000	0.86243	AAG		0.383	TMPO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407973.2	NM_003276		T	98931296	G	T	98931296	3	4	734	1	0	0	0	0	1	0	0	0	16242	991	35	4	2147	4	TMPO	12	98931296	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	3236912	98931296	34920599	649	42068											
GNPTAB	79158	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	102164267	102164267	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:102164267G>A	ENST00000299314.7	-	9	1292	c.1030C>T	c.(1030-1032)Cgg>Tgg	p.R344W	RP11-511H9.3_ENST00000600133.1_RNA|GNPTAB_ENST00000549940.1_Missense_Mutation_p.R344W	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	344					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						AAAATATTCCGAACCCATGGT	0.453																																																0													108	88	94					12																	102164267		2203	4300	6503	SO:0001583	missense	79158			AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"EF-hand domain containing"	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.1030C>T	12.37:g.102164267G>A	ENSP00000299314:p.Arg344Trp		A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Missense_Mutation	SNP	ENST00000299314.7	37	CCDS9088.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.175474	0.78564	.	.	ENSG00000111670	ENST00000299314;ENST00000549940	D;D	0.92965	-3.14;-3.14	5.62	3.61	0.41365	.	0.000000	0.85682	D	0.000000	D	0.97034	0.9031	H	0.96269	3.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.97564	1.0100	10	0.87932	D	0	-21.6459	12.2157	0.54404	0.069:0.0:0.8031:0.1279	.	344;344	Q3T906-2;Q3T906	.;GNPTA_HUMAN	W	344	ENSP00000299314:R344W;ENSP00000449150:R344W	ENSP00000299314:R344W	R	-	1	2	GNPTAB	100688398	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	4.381000	0.59587	1.372000	0.46190	0.655000	0.94253	CGG		0.453	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409182.1			A	102164267	G	A	102164267	3	1	734	1	0	0	0	0	1	0	0	0	6547	1057	37	1	2792	1	GNPTAB	12	102164267	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	3232971	102164267	31687628	650	42069											
C12orf48	55010	broad.mit.edu	37	12	102590010	102590010	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:102590010A>G	ENST00000358383.5	+	11	1726	c.1681A>G	c.(1681-1683)Act>Gct	p.T561A	PARPBP_ENST00000541394.1_Missense_Mutation_p.T638A|PARPBP_ENST00000392911.2_Missense_Mutation_p.T480A|PARPBP_ENST00000327680.2_Missense_Mutation_p.T480A|PARPBP_ENST00000378128.3_3'UTR|PARPBP_ENST00000543784.1_3'UTR|PARPBP_ENST00000535811.1_3'UTR			Q9NWS1	PARI_HUMAN	PARP1 binding protein	561					DNA repair (GO:0006281)|negative regulation of double-strand break repair via homologous recombination (GO:2000042)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|lung(8)|urinary_tract(2)	11						TAATAAATGTACTGCCAAGGA	0.318																																																0													67	69	69					12																	102590010		2203	4299	6502	SO:0001583	missense	55010			AK000648	CCDS9090.1, CCDS9090.2	12q23.2	2013-03-14	2012-01-24	2012-01-24		ENSG00000185480			26074	protein-coding gene	gene with protein product	"PARP-1 binding protein"	613687	"chromosome 12 open reading frame 48"	C12orf48		20931645	Standard	NM_017915		Approved	FLJ20641, PARI	uc001tjf.3	Q9NWS1		ENST00000358383.5:c.1681A>G	12.37:g.102590010A>G	ENSP00000351153:p.Thr561Ala		B4E0Y0|Q05C00|Q499L8|Q4FZA0|Q4KMW7|Q6NSC6|Q6PJA1|Q86W36	Missense_Mutation	SNP	ENST00000358383.5	37	CCDS9090.2	.	.	.	.	.	.	.	.	.	.	A	6.222	0.409187	0.11812	.	.	ENSG00000185480	ENST00000327680;ENST00000541394;ENST00000358383;ENST00000392911	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	4.82	-0.464	0.12160	.	0.814911	0.11696	N	0.538409	T	0.23289	0.0563	L	0.43923	1.385	0.09310	N	1	B;B;B	0.17667	0.023;0.002;0.001	B;B;B	0.17433	0.018;0.006;0.004	T	0.29731	-1.0002	10	0.05833	T	0.94	-1.1585	0.7572	0.01000	0.3411:0.1255:0.293:0.2404	.	638;276;561	B4DZ31;Q9NWS1-5;Q9NWS1	.;.;PR1BP_HUMAN	A	480;638;561;480	ENSP00000332915:T480A;ENSP00000440850:T638A;ENSP00000351153:T561A;ENSP00000376643:T480A	ENSP00000332915:T480A	T	+	1	0	C12orf48	101114140	0.000000	0.05858	0.002000	0.10522	0.049000	0.14656	-0.250000	0.08830	-0.013000	0.14199	0.533000	0.62120	ACT		0.318	PARPBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397030.2	NM_017915		G	102590010	A	G	102590010	3	3	734	1	0	0	0	0	1	0	0	0	1694	391	14	3	1472	3	C12orf48	12	102590010	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	425743	102590010	31261885	651	42070											
GLT8D2	83468	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	12	104391269	104391269	+	Silent	SNP	G	G	A	rs142096211	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:104391269G>A	ENST00000360814.4	-	7	852	c.447C>T	c.(445-447)caC>caT	p.H149H	GLT8D2_ENST00000546436.1_Silent_p.H149H|GLT8D2_ENST00000548660.1_Silent_p.H149H	NM_031302.3	NP_112592.1	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	149						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						TGACTTTCTCGTGTTGGTGGA	0.403																																																0								G		6,4400	11.4+/-27.6	0,6,2197	174	173	173		447	-9.5	0.7	12	dbSNP_134	173	8,8592	6.4+/-24.3	0,8,4292	no	coding-synonymous	GLT8D2	NM_031302.3		0,14,6489	AA,AG,GG		0.093,0.1362,0.1076		149/350	104391269	14,12992	2203	4300	6503	SO:0001819	synonymous_variant	83468			BC022343	CCDS9096.1	12q23.3	2013-02-22			ENSG00000120820	ENSG00000120820		"Glycosyltransferase family 8 domain containing"	24890	protein-coding gene	gene with protein product							Standard	NM_031302		Approved	FLJ31494	uc001tkh.1	Q9H1C3	OTTHUMG00000170120	ENST00000360814.4:c.447C>T	12.37:g.104391269G>A			Q96KA2	Silent	SNP	ENST00000360814.4	37	CCDS9096.1																																																																																				0.403	GLT8D2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407371.1	NM_031302		A	104391269	G	A	104391269	2	1	734	1	0	0	0	0	0	0	0	1	6472	1136	40	1		1	GLT8D2	12	104391269	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1801259	104391269	29460626	652	42071											
ALDH1L2	160428	mdanderson.org	37	12	105464485	105464485	+	Silent	SNP	G	G	A	rs74449999	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:105464485G>A	ENST00000258494.9	-	3	431	c.291C>T	c.(289-291)tcC>tcT	p.S97S	ALDH1L2_ENST00000424857.2_Silent_p.S97S|RP11-61E11.1_ENST00000547750.1_RNA	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	97	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						CTGCACCCACGGATCTGTAGG	0.483													G|||	59	0.0117812	0.003	0.0144	5008	,	,		17150	0.001		0.0408	False		,,,				2504	0.0031															0								G		39,4367	44.6+/-78.6	0,39,2164	184	148	160		291	-10.5	0.2	12	dbSNP_132	160	322,8278	114.0+/-174.0	8,306,3986	no	coding-synonymous	ALDH1L2	NM_001034173.3		8,345,6150	AA,AG,GG		3.7442,0.8852,2.7756		97/924	105464485	361,12645	2203	4300	6503	SO:0001819	synonymous_variant	160428			AK095827	CCDS31891.1	12q23.3	2014-09-11			ENSG00000136010	ENSG00000136010	1.5.1.6	"Aldehyde dehydrogenases"	26777	protein-coding gene	gene with protein product	"mitochondrial 10-formyltetrahydrofolate dehydrogenase"	613584				20498374	Standard	NM_001034173		Approved	FLJ38508, mtFDH	uc001tlc.3	Q3SY69	OTTHUMG00000169823	ENST00000258494.9:c.291C>T	12.37:g.105464485G>A			Q3SY68|Q68D62|Q6AI55|Q8N922	Silent	SNP	ENST00000258494.9	37	CCDS31891.1																																																																																				0.483	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406098.1	XM_090294		A	105464485	G	A	105464485	2	1	734	1	0	0	0	0	0	0	0	1	495	1103	39	1		1	ALDH1L2	12	105464485	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1073216	105464485	28387410	653	42072											
RFX4	5992	broad.mit.edu	37	12	107105260	107105260	+	Missense_Mutation	SNP	C	C	T	rs76703390	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:107105260C>T	ENST00000392842.1	+	10	1378	c.964C>T	c.(964-966)Cgg>Tgg	p.R322W	RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000357881.4_Missense_Mutation_p.R331W|RFX4_ENST00000229387.5_Missense_Mutation_p.R228W	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	322	Necessary for dimerization.				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						AATTCTGAGACGGCAAACATC	0.408													C|||	3	0.000599042	0.0008	0.0	5008	,	,		19023	0.0		0.001	False		,,,				2504	0.001															0								C	TRP/ARG,TRP/ARG,TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	151	132	139		991,682,964	4.6	1	12	dbSNP_132	139	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense,missense	RFX4	NM_001206691.1,NM_032491.5,NM_213594.2	101,101,101	0,6,6497	TT,TC,CC		0.0465,0.0454,0.0461	probably-damaging,probably-damaging,probably-damaging	331/745,228/642,322/736	107105260	6,13000	2203	4300	6503	SO:0001583	missense	5992			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.964C>T	12.37:g.107105260C>T	ENSP00000376585:p.Arg322Trp		A8K5Y0|B2RDW4|Q33DW6|Q33DW7|Q33E95|Q6YM53|Q8MHQ1|Q8NC78|Q8NDF9|Q8SNA1|Q96S80|Q9BXI0	Missense_Mutation	SNP	ENST00000392842.1	37	CCDS9106.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	20.9	4.064115	0.76187	4.54E-4	4.65E-4	ENSG00000111783	ENST00000392842;ENST00000357881;ENST00000266774;ENST00000229387	T;T;T	0.50813	0.73;0.73;0.73	5.46	4.55	0.56014	.	0.000000	0.85682	D	0.000000	T	0.70360	0.3215	M	0.85859	2.78	0.58432	D	0.999999	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.79108	0.917;0.992;0.992;0.973	T	0.75599	-0.3262	10	0.87932	D	0	-18.033	12.8063	0.57616	0.4362:0.5638:0.0:0.0	.	228;331;331;322	B2RDW4;Q33E94-2;Q33E94-4;Q33E94	.;.;.;RFX4_HUMAN	W	322;331;331;228	ENSP00000376585:R322W;ENSP00000350552:R331W;ENSP00000229387:R228W	ENSP00000229387:R228W	R	+	1	2	RFX4	105629390	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.116000	0.41930	1.254000	0.44035	0.655000	0.94253	CGG		0.408	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402707.1	NM_032491		T	107105260	C	T	107105260	3	4	734	1	0	0	0	0	1	0	0	0	13271	527	19	1	1175	1	RFX4	12	107105260	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1640775	107105260	26746635	654	42073											
SVOP	55530	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	12	109316565	109316565	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:109316565G>A	ENST00000299134.5	-	10	860	c.861C>T	c.(859-861)gtC>gtT	p.V287V		NM_018711.2	NP_061181.1	Q8N4V2	SVOP_HUMAN	SV2 related protein homolog (rat)	0						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	ion transmembrane transporter activity (GO:0015075)			breast(2)|lung(4)	6						GCCTTCTTCCGACTGGAGACT	0.542																																																0													60	57	58					12																	109316565		1959	4154	6113	SO:0001819	synonymous_variant	55530			BC033587	CCDS73520.1	12q24.11	2011-07-12				ENSG00000166111			25417	protein-coding gene	gene with protein product		611699					Standard	NM_018711		Approved	DKFZp761H039	uc010sxh.1	Q8N4V2		ENST00000299134.5:c.861C>T	12.37:g.109316565G>A			Q9NPW5	Missense_Mutation	SNP	ENST00000299134.5	37																																																																																					0.542	SVOP-001	KNOWN	mRNA_start_NF|cds_start_NF|basic	protein_coding	protein_coding	OTTHUMT00000403982.1	NM_018711		A	109316565	G	A	109316565	2	1	734	1	0	0	0	0	0	0	0	1	15428	1057	37	1		1	SVOP	12	109316565	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	2211305	109316565	24535330	655	42074											
MYO1H	283446	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	109882246	109882246	+	Missense_Mutation	SNP	G	G	A	rs369009537		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:109882246G>A	ENST00000431443.2	+	29	2887	c.2887G>A	c.(2887-2889)Gtt>Att	p.V963I	MYO1H_ENST00000310903.5_Missense_Mutation_p.V953I|RP11-256L11.3_ENST00000539987.1_RNA	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH	963	Myosin tail. {ECO:0000255}.					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						GGGGGATGCCGTTTTGCAGTG	0.453																																																0													124	117	119					12																	109882246		1960	4161	6121	SO:0001583	missense	283446				CCDS53826.1	12q24.11	2011-09-27			ENSG00000174527	ENSG00000174527		"Myosins / Myosin superfamily : Class I"	13879	protein-coding gene	gene with protein product		614636					Standard	NM_001101421		Approved	FLJ37587	uc010sxn.1	Q8N1T3	OTTHUMG00000169252	ENST00000431443.2:c.2887G>A	12.37:g.109882246G>A	ENSP00000444076:p.Val963Ile		F5H3C6	Missense_Mutation	SNP	ENST00000431443.2	37		.	.	.	.	.	.	.	.	.	.	G	0.010	-1.781801	0.00634	.	.	ENSG00000174527	ENST00000310903;ENST00000431443;ENST00000542268	T;T	0.39229	1.09;1.09	5.6	-6.93	0.01638	Myosin tail 2 (1);	.	.	.	.	T	0.14700	0.0355	N	0.03016	-0.435	0.09310	N	1	B;B	0.13145	0.007;0.006	B;B	0.13407	0.009;0.003	T	0.43032	-0.9416	9	0.02654	T	1	.	13.9631	0.64193	0.5982:0.0:0.4018:0.0	.	963;953	Q8N1T3;F5H3C6	MYO1H_HUMAN;.	I	953;963;144	ENSP00000439182:V953I;ENSP00000444076:V963I	ENSP00000439182:V953I	V	+	1	0	MYO1H	108366629	0.290000	0.24343	0.003000	0.11579	0.023000	0.10783	0.355000	0.20163	-1.700000	0.01414	-1.642000	0.00770	GTT		0.453	MYO1H-201	KNOWN	basic	protein_coding	protein_coding		NM_173597		A	109882246	G	A	109882246	3	1	734	1	0	0	0	0	1	0	0	0	10077	1145	40	1	2971	1	MYO1H	12	109882246	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	565681	109882246	23969649	656	42075											
GIT2	9815	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	110390995	110390995	+	Missense_Mutation	SNP	C	C	T	rs560157222	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:110390995C>T	ENST00000355312.3	-	13	1143	c.1144G>A	c.(1144-1146)Gtt>Att	p.V382I	GIT2_ENST00000551209.1_Missense_Mutation_p.V381I|GIT2_ENST00000361006.5_Missense_Mutation_p.V382I|GIT2_ENST00000553118.1_Missense_Mutation_p.V382I|TCHP_ENST00000550780.1_Intron|GIT2_ENST00000343646.5_Intron|GIT2_ENST00000320063.9_Missense_Mutation_p.V382I|GIT2_ENST00000547815.1_Missense_Mutation_p.V382I|GIT2_ENST00000338373.5_Missense_Mutation_p.V382I|GIT2_ENST00000360185.4_Missense_Mutation_p.V382I|GIT2_ENST00000457474.2_Missense_Mutation_p.V384I|GIT2_ENST00000356259.4_Missense_Mutation_p.V382I|GIT2_ENST00000354574.4_Missense_Mutation_p.V384I	NM_057169.3	NP_476510.1	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	382					behavioral response to pain (GO:0048266)|regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						TGACTCTCAACGCTGTGCTGG	0.428													C|||	5	0.000998403	0.0	0.0	5008	,	,		22911	0.0		0.0	False		,,,				2504	0.0051															0													253	212	226					12																	110390995		2203	4300	6503	SO:0001583	missense	9815			AF124491	CCDS9138.1, CCDS9139.1, CCDS44968.1, CCDS44969.1, CCDS55884.1	12q24.1	2013-01-10	2008-09-05			ENSG00000139436		"ADP-ribosylation factor GTPase activating proteins", "Ankyrin repeat domain containing"	4273	protein-coding gene	gene with protein product		608564	"G protein-coupled receptor kinase interactor 2"			9826657, 10896954	Standard	NM_139201		Approved	KIAA0148	uc001tps.2	Q14161	OTTHUMG00000169313	ENST00000355312.3:c.1144G>A	12.37:g.110390995C>T	ENSP00000347464:p.Val382Ile		Q86U59|Q96CI2|Q9BV91|Q9Y5V2	Missense_Mutation	SNP	ENST00000355312.3	37	CCDS9138.1	.	.	.	.	.	.	.	.	.	.	C	11.70	1.718157	0.30503	.	.	ENSG00000139436	ENST00000355312;ENST00000360185;ENST00000354574;ENST00000338373;ENST00000356259;ENST00000457474;ENST00000361006;ENST00000553118;ENST00000551209;ENST00000542273;ENST00000547815;ENST00000320063	T;T;T;T;T;T;T;T;T;T;T	0.71222	-0.54;-0.49;-0.47;-0.44;-0.46;-0.44;-0.55;-0.54;-0.52;-0.49;-0.5	5.22	-4.34	0.03666	.	0.604715	0.18446	N	0.140997	T	0.45196	0.1330	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B;B	0.11235	0.003;0.004;0.0;0.0;0.001;0.0;0.0	B;B;B;B;B;B;B	0.12156	0.007;0.001;0.0;0.0;0.002;0.0;0.001	T	0.28267	-1.0049	10	0.36615	T	0.2	.	12.9502	0.58397	0.0:0.2543:0.0:0.7457	.	382;382;384;384;382;382;382	B4E2E7;Q6FI58;Q14161-10;F8WAK2;Q14161-11;Q14161;Q14161-5	.;.;.;.;.;GIT2_HUMAN;.	I	382;382;384;382;382;384;382;382;381;320;382;382	ENSP00000347464:V382I;ENSP00000353312:V382I;ENSP00000346585:V384I;ENSP00000340342:V382I;ENSP00000348595:V382I;ENSP00000391813:V384I;ENSP00000354282:V382I;ENSP00000447465:V382I;ENSP00000448832:V381I;ENSP00000450348:V382I;ENSP00000323833:V382I	ENSP00000323833:V382I	V	-	1	0	GIT2	108875378	0.001000	0.12720	0.006000	0.13384	0.714000	0.41099	0.052000	0.14163	-0.534000	0.06315	-0.752000	0.03492	GTT		0.428	GIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403407.1	NM_057169		T	110390995	C	T	110390995	3	4	734	1	0	0	0	0	1	0	0	0	6399	536	19	1	1195	1	GIT2	12	110390995	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	508749	110390995	23460900	657	42076											
OAS1	4938	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	113346548	113346548	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:113346548C>T	ENST00000202917.5	+	2	651	c.388C>T	c.(388-390)Cgt>Tgt	p.R130C	OAS1_ENST00000551241.1_Missense_Mutation_p.R130C|OAS1_ENST00000553185.1_Missense_Mutation_p.R130C|OAS1_ENST00000445409.2_Missense_Mutation_p.R130C|OAS1_ENST00000452357.2_Missense_Mutation_p.R130C|RP1-71H24.1_ENST00000552784.1_RNA	NM_016816.2	NP_058132.2	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa	130					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						GGGCAACCCCCGTGCGCTCAG	0.577																																																0													81	77	78					12																	113346548		2203	4300	6503	SO:0001583	missense	4938			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.388C>T	12.37:g.113346548C>T	ENSP00000202917:p.Arg130Cys		A8K4N8|P04820|P29080|P29081|P78485|P78486|Q16700|Q16701|Q1PG42|Q3ZM01|Q53GC5|Q53YA4|Q6A1Z3|Q6IPC6|Q6P7N9|Q96J61	Missense_Mutation	SNP	ENST00000202917.5	37	CCDS41838.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.926322	0.52759	.	.	ENSG00000089127	ENST00000202917;ENST00000445409;ENST00000452357;ENST00000549820;ENST00000551241;ENST00000377508;ENST00000553185;ENST00000550689	T;T;T;T;T;T	0.09723	2.95;2.95;2.95;2.95;2.95;2.95	4.31	2.4	0.29515	.	0.563411	0.15923	N	0.238042	T	0.34919	0.0914	M	0.91510	3.215	0.22581	N	0.998969	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	0.83275	0.995;0.993;0.991;0.996;0.993;0.988	T	0.13072	-1.0523	10	0.87932	D	0	-25.987	5.0945	0.14725	0.2056:0.6858:0.0:0.1087	.	130;130;130;130;130;130	B4DWE7;E7EMI9;F8VXY3;P00973;P00973-3;P00973-2	.;.;.;OAS1_HUMAN;.;.	C	130;130;130;130;130;130;130;126	ENSP00000202917:R130C;ENSP00000388001:R130C;ENSP00000415721:R130C;ENSP00000448790:R130C;ENSP00000448001:R130C;ENSP00000448348:R126C	ENSP00000202917:R130C	R	+	1	0	OAS1	111830931	0.151000	0.22747	0.204000	0.23530	0.009000	0.06853	0.901000	0.28445	0.541000	0.28827	0.455000	0.32223	CGT		0.577	OAS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405896.2			T	113346548	C	T	113346548	3	4	734	1	0	0	0	0	1	0	0	0	10801	652	23	1	394	1	OAS1	12	113346548	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	2955553	113346548	20505347	658	42077											
RASAL1	8437	ucsc.edu	37	12	113554915	113554915	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:113554915G>A	ENST00000261729.5	-	9	1009	c.694C>T	c.(694-696)Cgc>Tgc	p.R232C	RASAL1_ENST00000546530.1_Missense_Mutation_p.R232C|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000548055.1_Missense_Mutation_p.R232C|RASAL1_ENST00000446861.3_Missense_Mutation_p.R232C			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	232					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						GGCAGGAGGCGGAACCAGCCT	0.627																																																0													53	50	51					12																	113554915		2203	4300	6503	SO:0001583	missense	8437			AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"Pleckstrin homology (PH) domain containing"	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.694C>T	12.37:g.113554915G>A	ENSP00000261729:p.Arg232Cys		B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Missense_Mutation	SNP	ENST00000261729.5	37	CCDS9165.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.839684	0.91117	.	.	ENSG00000111344	ENST00000546530;ENST00000261729;ENST00000446861;ENST00000548055	T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39	5.58	5.58	0.84498	C2 calcium/lipid-binding domain, CaLB (1);	0.055459	0.64402	D	0.000001	D	0.87951	0.6307	L	0.56769	1.78	0.54753	D	0.999989	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	0.79784	0.977;0.977;0.99;0.977;0.969;0.993;0.99	D	0.86489	0.1796	10	0.39692	T	0.17	.	18.3457	0.90321	0.0:0.0:1.0:0.0	.	232;232;232;244;232;232;232	B7ZKM4;B4DG06;F8VRH9;Q59H24;F8VQX1;O95294;O95294-2	.;.;.;.;.;RASL1_HUMAN;.	C	232	ENSP00000450244:R232C;ENSP00000261729:R232C;ENSP00000395920:R232C;ENSP00000448510:R232C	ENSP00000261729:R232C	R	-	1	0	RASAL1	112039298	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.605000	0.54088	2.611000	0.88343	0.655000	0.94253	CGC		0.627	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	NM_004658		A	113554915	G	A	113554915	3	1	734	1	0	0	0	0	1	0	0	0	13069	1116	39	1	1776	1	RASAL1	12	113554915	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	208367	113554915	20296980	659	42078											
PLBD2	196463	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	113825669	113825669	+	Missense_Mutation	SNP	C	C	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:113825669C>A	ENST00000280800.3	+	11	1591	c.1560C>A	c.(1558-1560)ttC>ttA	p.F520L	PLBD2_ENST00000545182.2_Missense_Mutation_p.F488L	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	520					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						CCTACCCCTTCCAGGCCCTGC	0.632																																																0													146	145	145					12																	113825669		2203	4300	6503	SO:0001583	missense	196463			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.1560C>A	12.37:g.113825669C>A	ENSP00000280800:p.Phe520Leu		F5H5E2	Missense_Mutation	SNP	ENST00000280800.3	37	CCDS9168.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.067603	0.36470	.	.	ENSG00000151176	ENST00000545182;ENST00000280800	T;T	0.17370	2.28;2.28	5.07	3.18	0.36537	.	0.000000	0.85682	D	0.000000	T	0.18676	0.0448	L	0.56340	1.77	0.29869	N	0.826998	P;P	0.37525	0.598;0.528	B;B	0.41374	0.355;0.274	T	0.06285	-1.0835	10	0.51188	T	0.08	-34.3898	8.5231	0.33289	0.0:0.6392:0.0:0.3608	.	488;520	F5H5E2;Q8NHP8	.;PLBL2_HUMAN	L	488;520	ENSP00000443463:F488L;ENSP00000280800:F520L	ENSP00000280800:F520L	F	+	3	2	PLBD2	112310052	1.000000	0.71417	0.972000	0.41901	0.529000	0.34654	1.313000	0.33585	1.251000	0.43983	0.555000	0.69702	TTC		0.632	PLBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404835.1	NM_173542		A	113825669	C	A	113825669	3	1	734	1	0	0	0	0	1	0	0	0	12028	854	30	4	1602	4	PLBD2	12	113825669	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	270754	113825669	20026226	660	42079											
TAOK3	51347	broad.mit.edu;ucsc.edu;mdanderson.org	37	12	118588925	118588925	+	Silent	SNP	G	G	A	rs539247810	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:118588925G>A	ENST00000392533.3	-	21	3064	c.2574C>T	c.(2572-2574)agC>agT	p.S858S	TAOK3_ENST00000537952.1_Silent_p.S398S|TAOK3_ENST00000536979.1_Silent_p.S53S|TAOK3_ENST00000543709.1_5'UTR|TAOK3_ENST00000419821.2_Silent_p.S858S	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	858					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)					TTATTCTCTCGCTGCGTTCCT	0.458													G|||	8	0.00159744	0.0	0.0	5008	,	,		16400	0.0		0.0	False		,,,				2504	0.0082															0													125	126	125					12																	118588925		2203	4300	6503	SO:0001819	synonymous_variant	51347			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.2574C>T	12.37:g.118588925G>A			Q658N1|Q8IUM4|Q9HC79|Q9NZM9|Q9UHG7	Silent	SNP	ENST00000392533.3	37	CCDS9188.1																																																																																				0.458	TAOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401456.2	NM_016281		A	118588925	G	A	118588925	2	1	734	1	0	0	0	0	0	0	0	1	15554	1078	38	1		1	TAOK3	12	118588925	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	4763256	118588925	15262970	661	42080											
CCDC60	160777	broad.mit.edu;hgsc.bcm.edu	37	12	119968788	119968788	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:119968788C>T	ENST00000327554.2	+	13	1936	c.1471C>T	c.(1471-1473)Cga>Tga	p.R491*	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	491										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)		CTTGCGGATTCGACCCCATGT	0.522																																																0													126	108	114					12																	119968788		2203	4300	6503	SO:0001587	stop_gained	160777			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.1471C>T	12.37:g.119968788C>T	ENSP00000333374:p.Arg491*			Nonsense_Mutation	SNP	ENST00000327554.2	37	CCDS9190.1	.	.	.	.	.	.	.	.	.	.	C	42	9.525726	0.99195	.	.	ENSG00000183273	ENST00000327554	.	.	.	5.55	3.67	0.42095	.	0.238775	0.28760	N	0.014230	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-27.0254	12.2972	0.54854	0.3343:0.6657:0.0:0.0	.	.	.	.	X	491	.	.	R	+	1	2	CCDC60	118453171	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.361000	0.34136	0.624000	0.30286	0.655000	0.94253	CGA		0.522	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401680.1	NM_178499		T	119968788	C	T	119968788	4	4	734	1	0	0	0	0	0	1	0	0	2833	876	31	1	1521	1	CCDC60	12	119968788	Nonsense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1379863	119968788	13883107	662	42081											
CIT	11113	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	120150093	120150093	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:120150093T>C	ENST00000261833.7	-	36	4670	c.4618A>G	c.(4618-4620)Acc>Gcc	p.T1540A	CIT_ENST00000392521.2_Missense_Mutation_p.T1582A|MIR1178_ENST00000408396.1_RNA|CIT_ENST00000537607.1_5'UTR	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1540	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)		AAGTAGAGGGTTCTCCCGGGC	0.532																																																0													199	207	204					12																	120150093		2203	4300	6503	SO:0001583	missense	11113			AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"serine/threonine kinase 21"	605629	"citron (rho-interacting, serine/threonine kinase 21)"			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.4618A>G	12.37:g.120150093T>C	ENSP00000261833:p.Thr1540Ala		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	CCDS9192.1	.	.	.	.	.	.	.	.	.	.	T	13.39	2.221702	0.39300	.	.	ENSG00000122966	ENST00000392521;ENST00000261833	T;T	0.65916	-0.15;-0.18	5.64	4.45	0.53987	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.064498	0.64402	D	0.000006	T	0.54919	0.1888	L	0.47716	1.5	0.40248	D	0.978031	B;B;B	0.21905	0.005;0.062;0.001	B;B;B	0.19148	0.001;0.024;0.003	T	0.54302	-0.8314	10	0.66056	D	0.02	.	11.8488	0.52399	0.1312:0.0:0.0:0.8688	.	1582;1540;1058	Q2M5E1;O14578;O14578-3	.;CTRO_HUMAN;.	A	1582;1540	ENSP00000376306:T1582A;ENSP00000261833:T1540A	ENSP00000261833:T1540A	T	-	1	0	CIT	118634476	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	2.035000	0.41155	0.908000	0.36671	0.533000	0.62120	ACC		0.532	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		C	120150093	T	C	120150093	3	2	734	1	0	0	0	0	1	0	0	0	3440	1725	60	3	1513	3	CIT	12	120150093	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	181305	120150093	13701802	663	42082											
RNF10	9921	ucsc.edu;mdanderson.org;bcgsc.ca	37	12	121000814	121000814	+	Missense_Mutation	SNP	C	C	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:121000814C>A	ENST00000325954.4	+	8	1656	c.1195C>A	c.(1195-1197)Ctg>Atg	p.L399M	RNF10_ENST00000413266.2_Missense_Mutation_p.L399M	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	399					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)					TGTGGCTGCTCTGGAACAACT	0.537																																																0													142	128	132					12																	121000814		2203	4300	6503	SO:0001583	missense	9921			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.1195C>A	12.37:g.121000814C>A	ENSP00000322242:p.Leu399Met		Q92550|Q9NPP8|Q9ULW4	Missense_Mutation	SNP	ENST00000325954.4	37	CCDS9201.1	.	.	.	.	.	.	.	.	.	.	C	9.302	1.053360	0.19907	.	.	ENSG00000022840	ENST00000325954;ENST00000458409;ENST00000413266	D;D	0.89875	-2.56;-2.58	5.5	2.57	0.30868	.	0.472617	0.21042	N	0.081155	T	0.79661	0.4484	N	0.25647	0.755	0.30643	N	0.756245	B;B	0.19817	0.039;0.011	B;B	0.19391	0.025;0.007	T	0.70464	-0.4864	10	0.32370	T	0.25	.	7.635	0.28261	0.0:0.6905:0.1449:0.1646	.	399;399	Q8N5U6-2;Q8N5U6	.;RNF10_HUMAN	M	399	ENSP00000322242:L399M;ENSP00000415682:L399M	ENSP00000322242:L399M	L	+	1	2	RNF10	119485197	0.989000	0.36119	1.000000	0.80357	0.683000	0.39861	0.072000	0.14617	0.453000	0.26858	-0.797000	0.03246	CTG		0.537	RNF10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401898.4			A	121000814	C	A	121000814	3	1	734	1	0	0	0	0	1	0	0	0	13428	912	32	4	1225	4	RNF10	12	121000814	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	850721	121000814	12851081	664	42083											
SCARB1	949	ucsc.edu	37	12	125263104	125263104	+	3'UTR	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:125263104C>T	ENST00000415380.2	-	0	1805				SCARB1_ENST00000339570.5_Missense_Mutation_p.G477D|SCARB1_ENST00000376788.1_3'UTR|SCARB1_ENST00000546215.1_3'UTR|SCARB1_ENST00000261693.6_3'UTR			Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1						adhesion of symbiont to host (GO:0044406)|androgen biosynthetic process (GO:0006702)|blood vessel endothelial cell migration (GO:0043534)|cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|detection of lipopolysaccharide (GO:0032497)|endothelial cell proliferation (GO:0001935)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|recognition of apoptotic cell (GO:0043654)|regulation of phagocytosis (GO:0050764)|regulation of phosphatidylcholine catabolic process (GO:0010899)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|viral process (GO:0016032)|wound healing (GO:0042060)	caveola (GO:0005901)|cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein binding (GO:0034185)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor activity (GO:0070506)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	AGCGGCCAGGCCTGGCTGGCT	0.706																																																0													4	7	6					12																	125263104		1754	3797	5551	SO:0001624	3_prime_UTR_variant	949			Z22555	CCDS9259.1, CCDS45008.1	12q24.32	2008-08-05	2002-09-06	2002-09-06	ENSG00000073060	ENSG00000073060			1664	protein-coding gene	gene with protein product		601040	"CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 1"	CD36L1		7689561	Standard	NM_001082959		Approved	SRB1, CLA-1, CLA1, SR-BI	uc001ugm.4	Q8WTV0	OTTHUMG00000168544	ENST00000415380.2:c.*21G>A	12.37:g.125263104C>T			F8W8N0|Q14016|Q52LZ5|Q6KFX4	Missense_Mutation	SNP	ENST00000415380.2	37		.	.	.	.	.	.	.	.	.	.	C	6.791	0.514930	0.12944	.	.	ENSG00000073060	ENST00000339570	T	0.59906	0.23	4.51	2.35	0.29111	.	.	.	.	.	T	0.29716	0.0742	N	0.08118	0	0.09310	N	0.999995	B	0.06786	0.001	B	0.04013	0.001	T	0.23154	-1.0196	9	0.09338	T	0.73	.	5.4703	0.16666	0.0:0.6756:0.0:0.3244	.	477	F8W8N0	.	D	477	ENSP00000343795:G477D	ENSP00000343795:G477D	G	-	2	0	SCARB1	123829057	0.000000	0.05858	0.000000	0.03702	0.208000	0.24298	-0.053000	0.11846	0.182000	0.20032	0.555000	0.69702	GGC		0.706	SCARB1-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000400165.1	NM_005505		T	125263104	C	T	125263104	1	4	734	0	1	0	0	0	0	0	0	0	13887	739	26	2		2	SCARB1	12	125263104	3'UTR	SNP	C	TCGA-KN-8428-01A-11D-2310-10	4262290	125263104	8588791	665	42084											
GPR133	283383	broad.mit.edu;ucsc.edu;mdanderson.org	37	12	131466490	131466490	+	Silent	SNP	G	G	A	rs145796361	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:131466490G>A	ENST00000261654.5	+	5	931	c.372G>A	c.(370-372)gcG>gcA	p.A124A	GPR133_ENST00000535015.1_Silent_p.A156A	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	124					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.A124A(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)		TCCCTTCTGCGTATGGGGGAC	0.507													g|||	8	0.00159744	0.0008	0.0043	5008	,	,		18530	0.0		0.001	False		,,,				2504	0.0031															1	Substitution - coding silent(1)	ovary(1)								0,4406		0,0,2203	134	124	127		372	-7.9	0	12	dbSNP_134	127	3,8597	3.7+/-12.6	0,3,4297	yes	coding-synonymous	GPR133	NM_198827.3		0,3,6500	AA,AG,GG		0.0349,0.0,0.0231		124/875	131466490	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	283383			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.372G>A	12.37:g.131466490G>A			B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Silent	SNP	ENST00000261654.5	37	CCDS9272.1																																																																																				0.507	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		A	131466490	G	A	131466490	2	1	734	1	0	0	0	0	0	0	0	1	6645	1132	40	1		1	GPR133	12	131466490	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	6203386	131466490	2385405	666	42085											
EP400	57634	broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	132474512	132474512	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:132474512G>A	ENST00000333577.4	+	9	2630	c.2521G>A	c.(2521-2523)Gtt>Att	p.V841I	EP400_ENST00000389562.2_Missense_Mutation_p.V804I|EP400_ENST00000330386.6_Missense_Mutation_p.V805I|EP400_ENST00000389561.2_Missense_Mutation_p.V805I|EP400_ENST00000332482.4_Missense_Mutation_p.V768I			Q96L91	EP400_HUMAN	E1A binding protein p400	841	HSA. {ECO:0000255|PROSITE- ProRule:PRU00549}.				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)		TCACCAGCTCGTTAGAACTGT	0.448																																																0													50	48	49					12																	132474512		2203	4300	6503	SO:0001583	missense	57634			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.2521G>A	12.37:g.132474512G>A	ENSP00000333602:p.Val841Ile		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37		.	.	.	.	.	.	.	.	.	.	G	11.18	1.562698	0.27915	.	.	ENSG00000183495	ENST00000537902;ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000423130;ENST00000541296;ENST00000542457	D;D;D;D;D	0.91351	-2.83;-2.81;-2.81;-2.8;-2.81	5.05	4.16	0.48862	.	0.000000	0.85682	D	0.000000	D	0.88713	0.6511	M	0.77103	2.36	0.38212	D	0.940518	B;B;B;B;B	0.33826	0.104;0.061;0.104;0.038;0.427	B;B;B;B;B	0.25506	0.029;0.029;0.029;0.012;0.061	D	0.88106	0.2822	10	0.35671	T	0.21	.	13.9058	0.63834	0.0745:0.0:0.9255:0.0	.	805;805;804;841;768	Q96L91-2;Q96L91-4;Q96L91-5;F8WCN8;Q96L91-3	.;.;.;.;.	I	768;841;805;804;768;805;841;805;805	ENSP00000333602:V841I;ENSP00000374212:V805I;ENSP00000374213:V804I;ENSP00000331737:V768I;ENSP00000330620:V805I	ENSP00000330620:V805I	V	+	1	0	EP400	131040465	1.000000	0.71417	0.285000	0.24819	0.212000	0.24457	5.177000	0.65032	1.259000	0.44117	0.561000	0.74099	GTT		0.448	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		A	132474512	G	A	132474512	3	1	734	1	0	0	0	0	1	0	0	0	5151	1145	40	1	2436	1	EP400	12	132474512	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1008022	132474512	1377383	667	42086											
POLE	5426	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	133250211	133250211	+	Missense_Mutation	SNP	C	C	T	rs115047349		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:133250211C>T	ENST00000320574.5	-	13	1352	c.1309G>A	c.(1309-1311)Gtg>Atg	p.V437M	POLE_ENST00000535270.1_Missense_Mutation_p.V410M	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	437					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)	TCTAGCTCCACGGGATCATAG	0.617								DNA polymerases (catalytic subunits)																																								0													137	129	132					12																	133250211		2203	4300	6503	SO:0001583	missense	5426				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.1309G>A	12.37:g.133250211C>T	ENSP00000322570:p.Val437Met		Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	C	18.54	3.645576	0.67358	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000376577;ENST00000535934	T;T;T;T	0.47177	4.7;4.7;4.7;0.85	5.62	5.62	0.85841	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.67458	0.2895	M	0.76433	2.335	0.80722	D	1	D;D	0.64830	0.994;0.994	P;P	0.59595	0.86;0.815	T	0.68953	-0.5273	10	0.56958	D	0.05	.	19.656	0.95842	0.0:1.0:0.0:0.0	.	410;437	F5H1D6;Q07864	.;DPOE1_HUMAN	M	437;448;410;217;372;55	ENSP00000322570:V437M;ENSP00000406383:V448M;ENSP00000445753:V410M;ENSP00000442519:V217M	ENSP00000322570:V437M	V	-	1	0	POLE	131760284	1.000000	0.71417	0.975000	0.42487	0.086000	0.17979	7.736000	0.84948	2.660000	0.90430	0.305000	0.20034	GTG		0.617	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		T	133250211	C	T	133250211	3	4	734	1	0	0	0	0	1	0	0	0	12198	536	19	1	5699	1	POLE	12	133250211	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	775699	133250211	601684	668	42087											
MPHOSPH8	54737	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	13	20220830	20220830	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr13:20220830C>T	ENST00000361479.5	+	3	685	c.617C>T	c.(616-618)gCc>gTc	p.A206V	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.A206V	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	206	Lys-rich.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of DNA methylation (GO:0044030)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nuclear nucleosome (GO:0000788)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	methylated histone binding (GO:0035064)			breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		ATTTCTGAAGCCAAAGAAGAA	0.348																																																0													22	24	23					13																	20220830		2198	4296	6494	SO:0001583	missense	54737			AK056785, AJ293409	CCDS9287.1	13q12.11	2013-01-10			ENSG00000196199	ENSG00000196199		"Ankyrin repeat domain containing"	29810	protein-coding gene	gene with protein product		611626				8885239	Standard	NM_017520		Approved	mpp8, HSMPP8	uc001umh.3	Q99549	OTTHUMG00000016498	ENST00000361479.5:c.617C>T	13.37:g.20220830C>T	ENSP00000355388:p.Ala206Val		B7Z6F9|Q5JPE5|Q5JTQ0|Q86TK3|Q96MK4|Q9BTP1	Missense_Mutation	SNP	ENST00000361479.5	37	CCDS9287.1	.	.	.	.	.	.	.	.	.	.	C	8.054	0.766734	0.15983	.	.	ENSG00000196199	ENST00000414242;ENST00000361479;ENST00000538024	T;T	0.34472	1.38;1.36	6.02	3.3	0.37823	.	0.602723	0.17580	N	0.169162	T	0.17152	0.0412	N	0.13043	0.29	0.21802	N	0.999539	B;B;B	0.17852	0.006;0.01;0.024	B;B;B	0.15052	0.003;0.011;0.012	T	0.30090	-0.9990	10	0.10377	T	0.69	.	5.8271	0.18560	0.0:0.5275:0.2606:0.2119	.	206;206;206	Q99549;Q99549-2;B3KS10	MPP8_HUMAN;.;.	V	206	ENSP00000414663:A206V;ENSP00000355388:A206V	ENSP00000355388:A206V	A	+	2	0	MPHOSPH8	19118830	0.115000	0.22152	1.000000	0.80357	0.482000	0.33219	0.744000	0.26245	0.402000	0.25451	0.650000	0.86243	GCC		0.348	MPHOSPH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044028.2	NM_017520		T	20220830	C	T	20220830	3	4	734	1	0	0	0	0	1	0	0	0	9729	739	26	2	627	2	MPHOSPH8	13	20220830	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10		20220830	94949048	669	42088											
SLC7A1	6541	broad.mit.edu;ucsc.edu	37	13	30088682	30088682	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr13:30088682C>T	ENST00000380752.5	-	13	2211	c.1825G>A	c.(1825-1827)Gag>Aag	p.E609K	SLC7A1_ENST00000473577.1_5'Flank	NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	609					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)	GACGCCTCCTCGCTGTGCCAC	0.667																																																0													53	42	46					13																	30088682		2203	4300	6503	SO:0001583	missense	6541			AF078107	CCDS9333.1	13q12.3	2013-05-22			ENSG00000139514	ENSG00000139514		"Solute carriers"	11057	protein-coding gene	gene with protein product	"ecotropic retroviral receptor", "amino acid transporter, cationic 1"	104615		ERR, ATRC1		1348489	Standard	NM_003045		Approved	CAT-1, HCAT1, REC1L	uc001uso.3	P30825	OTTHUMG00000016658	ENST00000380752.5:c.1825G>A	13.37:g.30088682C>T	ENSP00000370128:p.Glu609Lys		Q5JR50	Missense_Mutation	SNP	ENST00000380752.5	37	CCDS9333.1	.	.	.	.	.	.	.	.	.	.	C	10.49	1.366122	0.24684	.	.	ENSG00000139514	ENST00000380752	D	0.84873	-1.91	4.27	4.27	0.50696	.	0.457271	0.25520	N	0.030112	T	0.57814	0.2079	N	0.02765	-0.5	0.31206	N	0.699233	P	0.34909	0.475	B	0.23716	0.048	T	0.63033	-0.6727	10	0.05436	T	0.98	.	9.9362	0.41552	0.0:0.9063:0.0:0.0937	.	609	P30825	CTR1_HUMAN	K	609	ENSP00000370128:E609K	ENSP00000370128:E609K	E	-	1	0	SLC7A1	28986682	0.965000	0.33210	0.937000	0.37676	0.968000	0.65278	2.298000	0.43602	2.387000	0.81309	0.561000	0.74099	GAG		0.667	SLC7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044337.2	NM_003045		T	30088682	C	T	30088682	3	4	734	1	0	0	0	0	1	0	0	0	14698	893	31	1	68	1	SLC7A1	13	30088682	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	9867852	30088682	85081196	670	42089											
NBEA	26960	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	13	35733452	35733452	+	Silent	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr13:35733452A>G	ENST00000400445.3	+	22	3678	c.3144A>G	c.(3142-3144)gtA>gtG	p.V1048V	NBEA_ENST00000540320.1_Silent_p.V1048V|NBEA_ENST00000379939.2_Silent_p.V1048V|NBEA_ENST00000310336.4_Silent_p.V1048V	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1048					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)		GAAGTGGTGTACATGTGGAAG	0.393																																																0													91	87	88					13																	35733452		1895	4128	6023	SO:0001819	synonymous_variant	26960			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.3144A>G	13.37:g.35733452A>G			B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Silent	SNP	ENST00000400445.3	37	CCDS45026.1																																																																																				0.393	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		G	35733452	A	G	35733452	2	3	734	1	0	0	0	0	0	0	0	1	10189	378	14	3		3	NBEA	13	35733452	Silent	SNP	A	TCGA-KN-8428-01A-11D-2310-10	5644770	35733452	79436426	671	42090											
SPG20	23111	broad.mit.edu;ucsc.edu	37	13	36909383	36909383	+	Silent	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr13:36909383T>C	ENST00000451493.1	-	2	802	c.585A>G	c.(583-585)tcA>tcG	p.S195S	SPG20_ENST00000438666.2_Silent_p.S195S|SPG20_ENST00000495510.1_5'UTR|SPG20_ENST00000494062.2_Silent_p.S195S|SPG20_ENST00000355182.4_Silent_p.S195S	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	195					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)		CTCCAACTGATGAAAACTCCC	0.453																																																0													66	64	65					13																	36909383		2203	4300	6503	SO:0001819	synonymous_variant	23111			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.585A>G	13.37:g.36909383T>C			O60349|Q86Y67|Q9H1T2|Q9H1T3	Silent	SNP	ENST00000451493.1	37	CCDS9356.1																																																																																				0.453	SPG20-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044494.2			C	36909383	T	C	36909383	2	2	734	1	0	0	0	0	0	0	0	1	15047	1451	51	3		3	SPG20	13	36909383	Silent	SNP	T	TCGA-KN-8428-01A-11D-2310-10	1175931	36909383	78260495	672	42091											
WBP4	11193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	13	41657033	41657033	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr13:41657033C>T	ENST00000379487.3	+	10	1514	c.1114C>T	c.(1114-1116)Cga>Tga	p.R372*	WBP4_ENST00000542082.1_Nonsense_Mutation_p.R351*	NM_007187.3	NP_009118.1	O75554	WBP4_HUMAN	WW domain binding protein 4	372					mRNA cis splicing, via spliceosome (GO:0045292)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spliceosomal complex (GO:0005681)	nucleic acid binding (GO:0003676)|proline-rich region binding (GO:0070064)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|prostate(1)|skin(1)	12		Lung NSC(96;3.55e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;3.11e-09)|Epithelial(112;3.37e-06)|OV - Ovarian serous cystadenocarcinoma(117;8.3e-05)|GBM - Glioblastoma multiforme(144;0.00102)|BRCA - Breast invasive adenocarcinoma(63;0.07)		TTTAAGGCAACGAGGTGATGA	0.378																																																0													58	56	57					13																	41657033		2203	4300	6503	SO:0001587	stop_gained	11193			AF071185	CCDS9375.1	13q13.3	2012-10-17	2012-10-17		ENSG00000120688	ENSG00000120688			12739	protein-coding gene	gene with protein product	"formin binding protein 21"	604981				9724750	Standard	NM_007187		Approved	FBP21, MGC117310	uc001uxt.3	O75554	OTTHUMG00000016784	ENST00000379487.3:c.1114C>T	13.37:g.41657033C>T	ENSP00000368801:p.Arg372*		B7Z4M2|Q32P29	Nonsense_Mutation	SNP	ENST00000379487.3	37	CCDS9375.1	.	.	.	.	.	.	.	.	.	.	C	39	7.700010	0.98441	.	.	ENSG00000120688	ENST00000379487;ENST00000542082	.	.	.	6.07	4.14	0.48551	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.43841	D	0.996429	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.4043	11.7567	0.51880	0.4966:0.5034:0.0:0.0	.	.	.	.	X	372;351	.	ENSP00000368801:R372X	R	+	1	2	WBP4	40555033	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.583000	0.53928	1.534000	0.49203	0.655000	0.94253	CGA		0.378	WBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044655.2	NM_007187		T	41657033	C	T	41657033	4	4	734	1	0	0	0	0	0	1	0	0	17266	528	19	1	1152	1	WBP4	13	41657033	Nonsense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	4747650	41657033	73512845	673	42092											
SPERT	220082	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	13	46287927	46287927	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr13:46287927C>T	ENST00000310521.1	+	3	847	c.767C>T	c.(766-768)gCg>gTg	p.A256V	SPERT_ENST00000378966.3_Missense_Mutation_p.A220V	NM_152719.1	NP_689932.1	Q8NA61	SPERT_HUMAN	spermatid associated	256						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)		GAGAATCGCGCGCTGCAGCAG	0.692																																																0													19	17	18					13																	46287927		2187	4290	6477	SO:0001583	missense	220082			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.767C>T	13.37:g.46287927C>T	ENSP00000309189:p.Ala256Val		A8K8I5|Q8NHV2	Missense_Mutation	SNP	ENST00000310521.1	37	CCDS9399.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.592367	0.46214	.	.	ENSG00000174015	ENST00000310521;ENST00000378966	T;T	0.51071	0.74;0.72	5.27	5.27	0.74061	.	0.099939	0.44483	D	0.000442	T	0.34193	0.0889	L	0.32530	0.975	0.28594	N	0.909472	P;P	0.43352	0.804;0.531	B;B	0.38156	0.266;0.178	T	0.34825	-0.9813	10	0.40728	T	0.16	.	9.7621	0.40539	0.0:0.9087:0.0:0.0913	.	220;256	Q8NA61-2;Q8NA61	.;SPERT_HUMAN	V	256;220	ENSP00000309189:A256V;ENSP00000368249:A220V	ENSP00000309189:A256V	A	+	2	0	SPERT	45185928	0.113000	0.22115	0.988000	0.46212	0.856000	0.48823	2.116000	0.41930	2.735000	0.93741	0.655000	0.94253	GCG		0.692	SPERT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044786.2	NM_152719		T	46287927	C	T	46287927	3	4	734	1	0	0	0	0	1	0	0	0	15044	768	27	1	777	1	SPERT	13	46287927	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	4630894	46287927	68881951	674	42093											
RB1	5925	broad.mit.edu;hgsc.bcm.edu	37	13	49033915	49033915	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr13:49033915delC	ENST00000267163.4	+	20	2190	c.2052delC	c.(2050-2052)ttcfs	p.F684fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	684	Domain B.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(11)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	GGACCCTTTTCCAGCACACCC	0.458		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"L, E, M, O"	26	Whole gene deletion(15)|Unknown(11)	bone(10)|breast(5)|haematopoietic_and_lymphoid_tissue(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|lung(1)|liver(1)											97	91	93					13																	49033915		2203	4300	6503	SO:0001589	frameshift_variant	5925	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.2052delC	13.37:g.49033915delC	ENSP00000267163:p.Phe684fs		A8K5E3|P78499|Q5VW46|Q8IZL4	Frame_Shift_Del	DEL	ENST00000267163.4	37	CCDS31973.1																																																																																				0.458	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			-	49033915	C	-	49033915	7	5	734	1	0	1	0	1	0	0	0	0	13104	854	30	0	2130	0	RB1	13	49033915	Frame_Shift_Del	DEL	C	TCGA-KN-8428-01A-11D-2310-10	2745988	49033915	66135963	675	42094	391	2									
RB1	5925	bcgsc.ca	37	13	49033916	49033916	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr13:49033916delC	ENST00000267163.4	+	20	2191	c.2053delC	c.(2053-2055)cagfs	p.Q685fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	685	Domain B.|Pocket; binds T and E1A.		Q -> P (in RB). {ECO:0000269|PubMed:7795591}.		androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(11)|p.Q685*(2)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	GACCCTTTTCCAGCACACCCT	0.458		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"L, E, M, O"	28	Whole gene deletion(15)|Unknown(11)|Substitution - Nonsense(2)	bone(10)|breast(5)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|adrenal_gland(1)|eye(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|stomach(1)|liver(1)	GRCh37	CM016044	RB1	M							94	90	91					13																	49033916		2203	4300	6503	SO:0001589	frameshift_variant	5925	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.2053delC	13.37:g.49033916delC	ENSP00000267163:p.Gln685fs		A8K5E3|P78499|Q5VW46|Q8IZL4	Frame_Shift_Del	DEL	ENST00000267163.4	37	CCDS31973.1																																																																																				0.458	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			-	49033916	C	-	49033916	7	5	734	1	0	1	0	1	0	0	0	0	13104	595	21	0	2131	0	RB1	13	49033916	Frame_Shift_Del	DEL	C	TCGA-KN-8428-01A-11D-2310-10	1	49033916	66135962	676	42095	391	2									
DIS3	22894	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	13	73348179	73348179	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr13:73348179C>T	ENST00000377767.4	-	7	1106	c.1006G>A	c.(1006-1008)Gag>Aag	p.E336K	DIS3_ENST00000545453.1_Missense_Mutation_p.E174K|DIS3_ENST00000377780.4_Missense_Mutation_p.E306K	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	336					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)		AACATTTTCTCGCTTACAGCA	0.343										Multiple Myeloma(4;0.011)																																						0													97	97	97					13																	73348179		2202	4300	6502	SO:0001583	missense	22894			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.1006G>A	13.37:g.73348179C>T	ENSP00000366997:p.Glu336Lys		A6NI21|B2RBL2|Q5W0P7|Q5W0P8|Q658Z7|Q7Z481|Q8WWI2|Q9UG36	Missense_Mutation	SNP	ENST00000377767.4	37	CCDS9447.1	.	.	.	.	.	.	.	.	.	.	C	13.12	2.141048	0.37825	.	.	ENSG00000083520	ENST00000377767;ENST00000377780;ENST00000545453	T;T;T	0.40476	1.03;1.03;1.03	5.8	5.8	0.92144	.	0.528815	0.22419	N	0.060314	T	0.23210	0.0561	N	0.16307	0.4	0.34150	D	0.667477	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.27571	-1.0070	10	0.08837	T	0.75	.	9.0011	0.36083	0.0:0.8765:0.0:0.1235	.	306;336	Q9Y2L1-2;Q9Y2L1	.;RRP44_HUMAN	K	336;306;174	ENSP00000366997:E336K;ENSP00000367011:E306K;ENSP00000440058:E174K	ENSP00000366997:E336K	E	-	1	0	DIS3	72246180	0.999000	0.42202	0.900000	0.35374	0.851000	0.48451	4.910000	0.63321	2.737000	0.93849	0.563000	0.77884	GAG		0.343	DIS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045250.2	NM_014953		T	73348179	C	T	73348179	3	4	734	1	0	0	0	0	1	0	0	0	4537	893	31	1	1930	1	DIS3	13	73348179	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	24314263	73348179	41821699	677	42096											
HS6ST3	266722	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	13	97484970	97484970	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr13:97484970C>T	ENST00000376705.2	+	2	958	c.934C>T	c.(934-936)Cgc>Tgc	p.R312C		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	312					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)					TCGCCAGGTGCGCATGCTGGC	0.527																																																0													77	72	74					13																	97484970		2203	4300	6503	SO:0001583	missense	266722			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.934C>T	13.37:g.97484970C>T	ENSP00000365895:p.Arg312Cys		Q5W0L0|Q68CW6	Missense_Mutation	SNP	ENST00000376705.2	37	CCDS9481.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.788595	0.90367	.	.	ENSG00000185352	ENST00000376705	T	0.42131	0.98	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.73063	0.3539	M	0.90369	3.11	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78532	-0.2168	10	0.87932	D	0	-28.732	19.7149	0.96113	0.0:1.0:0.0:0.0	.	312	Q8IZP7	H6ST3_HUMAN	C	312	ENSP00000365895:R312C	ENSP00000365895:R312C	R	+	1	0	HS6ST3	96282971	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.814000	0.86154	2.648000	0.89879	0.650000	0.86243	CGC		0.527	HS6ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045517.2	NM_153456		T	97484970	C	T	97484970	3	4	734	1	0	0	0	0	1	0	0	0	7374	768	27	1	940	1	HS6ST3	13	97484970	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	24136791	97484970	17684908	678	42097											
ATP11A	23250	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	13	113530121	113530121	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr13:113530121G>A	ENST00000487903.1	+	28	3281	c.3193G>A	c.(3193-3195)Gtg>Atg	p.V1065M	ATP11A_ENST00000283558.8_Missense_Mutation_p.V1065M|ATP11A_ENST00000375630.2_Missense_Mutation_p.V1065M|ATP11A_ENST00000375645.3_Missense_Mutation_p.V1065M			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	1065					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	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(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	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;0.134)|all_epithelial(44;0.141)				GATGTACTACGTGTTCATCCA	0.617																																																0													87	81	83					13																	113530121		2203	4300	6503	SO:0001583	missense	23250			AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"ATPases / P-type"	13552	protein-coding gene	gene with protein product	"potential phospholipid-transporting ATPase IH", "phospholipid-translocating ATPase"	605868	"ATPase, Class VI, type 11A"			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.3193G>A	13.37:g.113530121G>A	ENSP00000420387:p.Val1065Met		Q5VXT2	Missense_Mutation	SNP	ENST00000487903.1	37	CCDS32011.1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.529398	0.64860	.	.	ENSG00000068650	ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558;ENST00000419631	T;T;T;T;T	0.58210	0.35;0.35;0.35;0.35;0.35	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.71256	0.3318	M	0.73430	2.235	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.65140	0.932;0.932	T	0.74450	-0.3661	10	0.51188	T	0.08	.	17.8446	0.88725	0.0:0.0:1.0:0.0	.	1065;1065	E9PEJ6;P98196	.;AT11A_HUMAN	M	1065;1065;1065;1065;57	ENSP00000420387:V1065M;ENSP00000364781:V1065M;ENSP00000364796:V1065M;ENSP00000283558:V1065M;ENSP00000410824:V57M	ENSP00000283558:V1065M	V	+	1	0	ATP11A	112578122	1.000000	0.71417	0.985000	0.45067	0.068000	0.16541	8.990000	0.93510	2.198000	0.70561	0.561000	0.74099	GTG		0.617	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205		A	113530121	G	A	113530121	3	1	734	1	0	0	0	0	1	0	0	0	1119	1145	40	1	3303	1	ATP11A	13	113530121	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	16045151	113530121	1639757	679	42098											
RASA3	22821	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	13	114780772	114780772	+	Missense_Mutation	SNP	C	C	T	rs370539205		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr13:114780772C>T	ENST00000334062.7	-	14	1439	c.1318G>A	c.(1318-1320)Gcc>Acc	p.A440T	RASA3_ENST00000389544.4_Missense_Mutation_p.A408T	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	440	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				calcium ion transmembrane transport (GO:0070588)|intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	calcium-release channel activity (GO:0015278)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			TCAGTGATGGCGTGGAAGACG	0.647																																																0								C	THR/ALA	0,4406		0,0,2203	117	100	106		1318	3.3	0	13		106	1,8599	1.2+/-3.3	0,1,4299	no	missense	RASA3	NM_007368.2	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	440/835	114780772	1,13005	2203	4300	6503	SO:0001583	missense	22821				CCDS32016.1	13q34	2013-01-10			ENSG00000185989	ENSG00000185989		"Pleckstrin homology (PH) domain containing"	20331	protein-coding gene	gene with protein product		605182				7637787, 9382842	Standard	NM_007368		Approved	GAP1IP4BP, GAPIII	uc001vui.3	Q14644	OTTHUMG00000017399	ENST00000334062.7:c.1318G>A	13.37:g.114780772C>T	ENSP00000335029:p.Ala440Thr		A6NL15|F8W6X8|Q8IUY2	Missense_Mutation	SNP	ENST00000334062.7	37	CCDS32016.1	.	.	.	.	.	.	.	.	.	.	C	11.71	1.720226	0.30503	0.0	1.16E-4	ENSG00000185989	ENST00000334062;ENST00000389544	T;T	0.80214	-1.35;-1.35	5.07	3.34	0.38264	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.267542	0.35936	N	0.002897	T	0.70535	0.3235	L	0.34521	1.04	0.80722	D	1	B	0.09022	0.002	B	0.28784	0.094	T	0.59016	-0.7533	9	.	.	.	.	10.2263	0.43227	0.0:0.834:0.0:0.166	.	440	Q14644	RASA3_HUMAN	T	440;408	ENSP00000335029:A440T;ENSP00000374195:A408T	.	A	-	1	0	RASA3	113798874	0.991000	0.36638	0.002000	0.10522	0.010000	0.07245	2.982000	0.49337	0.526000	0.28541	0.591000	0.81541	GCC		0.647	RASA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045957.2	NM_007368		T	114780772	C	T	114780772	3	4	734	1	0	0	0	0	1	0	0	0	13068	768	27	1	1230	1	RASA3	13	114780772	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1250651	114780772	389106	680	42099											
OR4K13	390433	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	14	20502143	20502143	+	Missense_Mutation	SNP	C	C	T	rs199734457		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:20502143C>T	ENST00000315693.2	-	1	776	c.775G>A	c.(775-777)Gtc>Atc	p.V259I	AL359218.1_ENST00000580563.1_RNA	NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	259						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)		AAGGGCCAGACGTAGATAAAG	0.403																																																0													91	83	86					14																	20502143		2203	4300	6503	SO:0001583	missense	390433				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.775G>A	14.37:g.20502143C>T	ENSP00000319322:p.Val259Ile		Q6IF13	Missense_Mutation	SNP	ENST00000315693.2	37	CCDS32028.1	.	.	.	.	.	.	.	.	.	.	.	0.132	-1.112246	0.01799	.	.	ENSG00000176253	ENST00000315693	T	0.36699	1.24	3.46	1.51	0.23008	GPCR, rhodopsin-like superfamily (1);	0.230090	0.21786	U	0.069139	T	0.21631	0.0521	N	0.25060	0.705	0.09310	N	1	B	0.09022	0.002	B	0.12837	0.008	T	0.16305	-1.0407	10	0.33940	T	0.23	.	8.2777	0.31881	0.177:0.6517:0.1713:0.0	.	259	Q8NH42	OR4KD_HUMAN	I	259	ENSP00000319322:V259I	ENSP00000319322:V259I	V	-	1	0	OR4K13	19571983	0.000000	0.05858	0.004000	0.12327	0.003000	0.03518	-1.254000	0.02874	0.137000	0.18759	0.514000	0.50259	GTC		0.403	OR4K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410344.1			T	20502143	C	T	20502143	3	4	734	1	0	0	0	0	1	0	0	0	11070	536	19	1	141	1	OR4K13	14	20502143	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10		20502143	86847397	681	42100											
TTC5	91875	broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	20763923	20763923	+	Nonsense_Mutation	SNP	G	G	A	rs199831317		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:20763923G>A	ENST00000258821.3	-	7	843	c.787C>T	c.(787-789)Cga>Tga	p.R263*		NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	263					DNA repair (GO:0006281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		TGTTGCTCTCGTTGCCGGGGC	0.483																																																0																																										SO:0001587	stop_gained	91875			BC008647	CCDS9546.1	14q11.2	2013-01-11			ENSG00000136319	ENSG00000136319		"Tetratricopeptide (TTC) repeat domain containing"	19274	protein-coding gene	gene with protein product						11511361	Standard	NM_138376		Approved	Strap	uc001vwt.3	Q8N0Z6	OTTHUMG00000029506	ENST00000258821.3:c.787C>T	14.37:g.20763923G>A	ENSP00000258821:p.Arg263*		A8MQ18|Q96HF9	Nonsense_Mutation	SNP	ENST00000258821.3	37	CCDS9546.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.344399|5.344399	0.95807|0.95807	.|.	.|.	ENSG00000136319|ENSG00000136319	ENST00000258821|ENST00000423949	.|.	.|.	.|.	4.94|4.94	4.94|4.94	0.65067|0.65067	.|.	0.058488|.	0.64402|.	D|.	0.000003|.	.|T	.|0.55577	.|0.1929	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.64296	.|-0.6441	.|3	0.07030|.	T|.	0.85|.	.|.	11.1516|11.1516	0.48462|0.48462	0.0:0.0:0.7045:0.2955|0.0:0.0:0.7045:0.2955	.|.	.|.	.|.	.|.	X|M	263|207	.|.	ENSP00000258821:R263X|.	R|T	-|-	1|2	2|0	TTC5|TTC5	19833763|19833763	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.997000|0.997000	0.91878|0.91878	2.883000|2.883000	0.48554|0.48554	2.459000|2.459000	0.83118|0.83118	0.655000|0.655000	0.94253|0.94253	CGA|ACG		0.483	TTC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073529.4	NM_138376		A	20763923	G	A	20763923	4	1	734	1	0	0	0	0	0	1	0	0	16716	1153	40	1	551	1	TTC5	14	20763923	Nonsense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	261780	20763923	86585617	682	42101											
TEP1	7011	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	14	20854663	20854663	+	Missense_Mutation	SNP	C	C	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:20854663C>A	ENST00000262715.5	-	19	2844	c.2804G>T	c.(2803-2805)aGc>aTc	p.S935I	TEP1_ENST00000556935.1_Missense_Mutation_p.S827I	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	935					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)		TCCGTGAAGGCTGATACGGTG	0.637																																																0													44	39	41					14																	20854663		2203	4300	6503	SO:0001583	missense	7011				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"WD repeat domain containing"	11726	protein-coding gene	gene with protein product	"TROVE domain family, member 1"	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.2804G>T	14.37:g.20854663C>A	ENSP00000262715:p.Ser935Ile		A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	C	13.11	2.139513	0.37728	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.43294	0.95;0.95	5.21	3.35	0.38373	.	0.534882	0.22064	N	0.065124	T	0.42314	0.1197	L	0.31420	0.93	0.49299	D	0.999771	P;D;P	0.58620	0.815;0.983;0.934	B;P;P	0.56700	0.387;0.804;0.617	T	0.34725	-0.9817	10	0.72032	D	0.01	-7.6996	8.1729	0.31264	0.0:0.4663:0.447:0.0867	.	827;285;935	G3V5X7;G3V2A4;Q99973	.;.;TEP1_HUMAN	I	935;935;827	ENSP00000262715:S935I;ENSP00000452574:S827I	ENSP00000262715:S935I	S	-	2	0	TEP1	19924503	0.948000	0.32251	0.939000	0.37840	0.011000	0.07611	1.342000	0.33919	1.168000	0.42723	-0.176000	0.13171	AGC		0.637	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		A	20854663	C	A	20854663	3	1	734	1	0	0	0	0	1	0	0	0	15764	797	28	4	5227	4	TEP1	14	20854663	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	90740	20854663	86494877	683	42102											
OR5AU1	390445	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	14	21623218	21623218	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:21623218G>A	ENST00000304418.3	-	1	1004	c.967C>T	c.(967-969)Cgc>Tgc	p.R323C		NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU, member 1	323						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(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		GCAACTGTGCGGTCCTGGGTC	0.498																																																0													115	107	110					14																	21623218		2203	4300	6503	SO:0001583	missense	390445			AL157687	CCDS32042.1	14q11.2	2013-09-23			ENSG00000169327	ENSG00000169327		"GPCR / Class A : Olfactory receptors"	15362	protein-coding gene	gene with protein product							Standard	NM_001004731		Approved		uc010tlp.2	Q8NGC0	OTTHUMG00000170753	ENST00000304418.3:c.967C>T	14.37:g.21623218G>A	ENSP00000302057:p.Arg323Cys		B2RP78|Q6IEU2|Q96R10	Missense_Mutation	SNP	ENST00000304418.3	37	CCDS32042.1	.	.	.	.	.	.	.	.	.	.	G	10.17	1.276421	0.23307	.	.	ENSG00000169327	ENST00000304418	T	0.00130	8.69	4.48	0.337	0.15966	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00271	0.0008	M	0.70787	2.145	0.09310	N	0.999999	D	0.64830	0.994	P	0.58820	0.846	T	0.48864	-0.8997	9	0.87932	D	0	.	0.8644	0.01200	0.288:0.1586:0.3903:0.1631	.	323	Q8NGC0	O5AU1_HUMAN	C	323	ENSP00000302057:R323C	ENSP00000302057:R323C	R	-	1	0	OR5AU1	20693058	0.049000	0.20398	0.105000	0.21289	0.031000	0.12232	0.129000	0.15830	0.505000	0.28104	0.491000	0.48974	CGC		0.498	OR5AU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410213.1			A	21623218	G	A	21623218	3	1	734	1	0	0	0	0	1	0	0	0	11149	1116	39	1	124	1	OR5AU1	14	21623218	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	768555	21623218	85726322	684	42103											
SUPT16H	11198	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	14	21834651	21834651	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:21834651G>A	ENST00000216297.2	-	8	1331	c.993C>T	c.(991-993)gaC>gaT	p.D331D		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	331					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)		TTTTAACCACGTCCATGACAG	0.353																																																0													234	212	219					14																	21834651		2203	4300	6503	SO:0001819	synonymous_variant	11198			AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"facilitates chromatin remodeling 140 kDa subunit"	605012	"suppressor of Ty (S.cerevisiae) 16 homolog"			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.993C>T	14.37:g.21834651G>A			Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Silent	SNP	ENST00000216297.2	37	CCDS9569.1																																																																																				0.353	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2			A	21834651	G	A	21834651	2	1	734	1	0	0	0	0	0	0	0	1	15401	1136	40	1		1	SUPT16H	14	21834651	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	211433	21834651	85514889	685	42104											
ACIN1	22985	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	14	23530539	23530539	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:23530539G>A	ENST00000262710.1	-	17	3893	c.3566C>T	c.(3565-3567)gCg>gTg	p.A1189V	ACIN1_ENST00000557515.1_Missense_Mutation_p.A430V|ACIN1_ENST00000338631.6_Missense_Mutation_p.A462V|ACIN1_ENST00000397341.3_Missense_Mutation_p.A431V|ACIN1_ENST00000605057.1_Missense_Mutation_p.A1131V|ACIN1_ENST00000555053.1_Missense_Mutation_p.A1176V|ACIN1_ENST00000357481.2_Missense_Mutation_p.A431V|ACIN1_ENST00000457657.1_Missense_Mutation_p.A1149V	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1189	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TTTAGACTTCGCACGTTCCTT	0.562																																																0													185	190	188					14																	23530539		2203	4300	6503	SO:0001583	missense	22985			AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 152"	604562	"apoptotic chromatin condensation inducer in the nucleus"	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.3566C>T	14.37:g.23530539G>A	ENSP00000262710:p.Ala1189Val		B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	ENST00000262710.1	37	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	G	18.12	3.553228	0.65425	.	.	ENSG00000100813	ENST00000557515;ENST00000338631;ENST00000357481;ENST00000262710;ENST00000457657;ENST00000397341;ENST00000555053	T;T;T;T;T;T;T	0.05513	3.43;3.43;3.43;3.43;3.43;3.43;3.43	4.79	3.89	0.44902	.	0.000000	0.39341	N	0.001387	T	0.04543	0.0124	L	0.34521	1.04	0.37513	D	0.917249	P;P;B;B;B	0.37500	0.597;0.462;0.231;0.022;0.086	B;B;B;B;B	0.22753	0.041;0.018;0.01;0.005;0.005	T	0.50162	-0.8860	10	0.33141	T	0.24	-10.8231	12.5296	0.56106	0.0831:0.0:0.9169:0.0	.	1176;1189;1149;462;431	G3V3M7;Q9UKV3;E7EQT4;Q9UKV3-2;Q9UKV3-3	.;ACINU_HUMAN;.;.;.	V	430;462;431;1189;1149;431;1176	ENSP00000451138:A430V;ENSP00000345541:A462V;ENSP00000350073:A431V;ENSP00000262710:A1189V;ENSP00000405677:A1149V;ENSP00000380502:A431V;ENSP00000451328:A1176V	ENSP00000262710:A1189V	A	-	2	0	ACIN1	22600379	0.968000	0.33430	0.923000	0.36655	0.736000	0.42039	2.188000	0.42612	1.358000	0.45922	0.563000	0.77884	GCG		0.562	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		A	23530539	G	A	23530539	3	1	734	1	0	0	0	0	1	0	0	0	142	1087	38	1	471	1	ACIN1	14	23530539	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1695888	23530539	83819001	686	42105											
SLC7A8	23428	broad.mit.edu;mdanderson.org;bcgsc.ca	37	14	23596496	23596496	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:23596496G>A	ENST00000316902.7	-	11	2223	c.1498C>T	c.(1498-1500)Cgg>Tgg	p.R500W	SLC7A8_ENST00000422941.2_Missense_Mutation_p.R276W|SLC7A8_ENST00000453702.1_Missense_Mutation_p.R297W|SLC7A8_ENST00000469263.1_Missense_Mutation_p.A282V|SLC7A8_ENST00000529705.2_Missense_Mutation_p.R395W	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8	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)|metal ion homeostasis (GO:0055065)|neutral amino acid transport (GO:0015804)|organic cation transport (GO:0015695)|response to toxic substance (GO:0009636)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|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)|organic cation transmembrane transporter activity (GO:0015101)|peptide antigen binding (GO:0042605)|toxin transporter activity (GO:0019534)			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	CCTGAGCCCCGCTCCACCTCG	0.592																																																0													197	149	165					14																	23596496		2203	4300	6503	SO:0001583	missense	23428			Y18483	CCDS9590.1, CCDS41924.1, CCDS58304.1, CCDS58305.1	14q11.2	2013-05-22	2011-07-12		ENSG00000092068	ENSG00000092068		"Solute carriers"	11066	protein-coding gene	gene with protein product		604235				10080183, 10391915	Standard	NM_001267036		Approved	LPI-PC1, LAT2	uc001wiz.4	Q9UHI5	OTTHUMG00000028720	ENST00000316902.7:c.1498C>T	14.37:g.23596496G>A	ENSP00000320378:p.Arg500Trp		B2R8Q4|B4DKT4|B4DTV6|D3DS46|F2Z2J4|Q86U05|Q9UKQ6|Q9UKQ7|Q9UKQ8|Q9Y445	Missense_Mutation	SNP	ENST00000316902.7	37	CCDS9590.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	13.09|13.09|13.09	2.131992|2.131992|2.131992	0.37630|0.37630|0.37630	.|.|.	.|.|.	ENSG00000092068|ENSG00000092068|ENSG00000092068	ENST00000206514|ENST00000469263|ENST00000316902;ENST00000453702;ENST00000529705;ENST00000422941	.|D|D;D;D;D	.|0.92249|0.90385	.|-3.0|-2.66;-2.18;-2.49;-2.16	3.88|3.88|3.88	0.298|0.298|0.298	0.15766|0.15766|0.15766	.|.|.	.|.|1.355130	.|.|0.04310	.|.|N	.|.|0.348721	.|T|T	.|0.81479|0.81479	.|0.4831|0.4831	N|N|N	0.08118|0.08118|0.08118	0|0|0	0.09310|0.09310|0.09310	N|N|N	1|1|1	.|B|D;P;P	.|0.13145|0.53312	.|0.007|0.959;0.927;0.587	.|B|B;B;B	.|0.08055|0.44163	.|0.003|0.443;0.113;0.023	.|T|T	.|0.73148|0.73148	.|-0.4074|-0.4074	.|9|10	.|0.87932|0.66056	.|D|D	.|0|0.02	.|.|.	4.4348|4.4348|4.4348	0.11545|0.11545|0.11545	0.0:0.399:0.3526:0.2484|0.0:0.399:0.3526:0.2484|0.0:0.399:0.3526:0.2484	.|.|.	.|282|395;276;500	.|E9PLV9|B4DKT4;B4DTV6;Q9UHI5	.|.|.;.;LAT2_HUMAN	.|V|W	-1|282|500;297;395;276	.|ENSP00000435114:A282V|ENSP00000320378:R500W;ENSP00000391577:R297W;ENSP00000434345:R395W;ENSP00000416398:R276W	.|ENSP00000435114:A282V|ENSP00000320378:R500W	.|A|R	-|-|-	.|2|1	.|0|2	SLC7A8|SLC7A8|SLC7A8	22666336|22666336|22666336	0.000000|0.000000|0.000000	0.05858|0.05858|0.05858	0.000000|0.000000|0.000000	0.03702|0.03702|0.03702	0.007000|0.007000|0.007000	0.05969|0.05969|0.05969	0.185000|0.185000|0.185000	0.16958|0.16958|0.16958	-0.297000|-0.297000|-0.297000	0.08934|0.08934|0.08934	-0.410000|-0.410000|-0.410000	0.06199|0.06199|0.06199	.|GCG|CGG		0.592	SLC7A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071718.3			A	23596496	G	A	23596496	3	1	734	1	0	0	0	0	1	0	0	0	14710	1086	38	1	113	1	SLC7A8	14	23596496	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	65957	23596496	83753044	687	42106											
LRRC16B	90668	broad.mit.edu	37	14	24529235	24529235	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:24529235G>A	ENST00000342740.5	+	23	2079	c.1925G>A	c.(1924-1926)cGc>cAc	p.R642H	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	642						cytoplasm (GO:0005737)				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		CAAGCCTATCGCAGCGCGCCT	0.657																																																0													142	124	130					14																	24529235		2203	4300	6503	SO:0001583	missense	90668			AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"chromosome 14 open reading frame 121"	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.1925G>A	14.37:g.24529235G>A	ENSP00000340467:p.Arg642His		Q8TEF7|Q96HS9	Missense_Mutation	SNP	ENST00000342740.5	37	CCDS32054.1	.	.	.	.	.	.	.	.	.	.	G	17.14	3.314513	0.60524	.	.	ENSG00000186648	ENST00000342740	T	0.50001	0.76	4.52	4.52	0.55395	.	0.067934	0.64402	D	0.000013	T	0.36963	0.0986	L	0.53249	1.67	0.80722	D	1	P	0.35011	0.48	B	0.23852	0.049	T	0.41752	-0.9491	10	0.72032	D	0.01	-2.2737	8.3812	0.32472	0.1048:0.0:0.8952:0.0	.	642	Q8ND23	LR16B_HUMAN	H	642	ENSP00000340467:R642H	ENSP00000340467:R642H	R	+	2	0	LRRC16B	23599075	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	5.311000	0.65786	2.331000	0.79229	0.561000	0.74099	CGC		0.657	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416527.1	NM_138360		A	24529235	G	A	24529235	3	1	734	1	0	0	0	0	1	0	0	0	8974	1087	38	1	2015	1	LRRC16B	14	24529235	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	932739	24529235	82820305	688	42107											
PSME2	5721	broad.mit.edu	37	14	24615753	24615753	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:24615753G>A	ENST00000216802.5	-	1	677	c.38C>T	c.(37-39)gCc>gTc	p.A13V	RNF31_ENST00000559275.1_5'Flank|RNF31_ENST00000324103.6_5'Flank|PSME2_ENST00000471700.2_5'UTR|PSME2_ENST00000560410.1_Missense_Mutation_p.A13V|RNF31_ENST00000382687.3_5'Flank	NM_002818.2	NP_002809.2	Q9UL46	PSME2_HUMAN	proteasome (prosome, macropain) activator subunit 2 (PA28 beta)	13					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome activator complex (GO:0008537)|proteasome complex (GO:0000502)				endometrium(1)|lung(3)|prostate(2)	6				GBM - Glioblastoma multiforme(265;0.00839)		CTGTTTGCGGGCTTCCCCGCT	0.627																																																0													72	70	71					14																	24615753		2203	4300	6503	SO:0001583	missense	5721				CCDS9614.1	14q11.2	2010-03-10			ENSG00000100911	ENSG00000100911		"Proteasome (prosome, macropain) subunits"	9569	protein-coding gene	gene with protein product		602161				7789512	Standard	NM_002818		Approved	PA28beta	uc001wmj.3	Q9UL46	OTTHUMG00000028797	ENST00000216802.5:c.38C>T	14.37:g.24615753G>A	ENSP00000216802:p.Ala13Val		Q15129	Missense_Mutation	SNP	ENST00000216802.5	37	CCDS9614.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.392027	0.62066	.	.	ENSG00000100911	ENST00000216802	T	0.42900	0.96	5.22	5.22	0.72569	Proteasome activator pa28, REG alpha subunit (2);	0.421812	0.27004	N	0.021411	T	0.27832	0.0685	N	0.19112	0.55	0.34426	D	0.697993	B	0.06786	0.001	B	0.11329	0.006	T	0.25257	-1.0137	10	0.14656	T	0.56	-30.1892	14.1557	0.65417	0.0:0.0:1.0:0.0	.	13	Q9UL46	PSME2_HUMAN	V	13	ENSP00000216802:A13V	ENSP00000216802:A13V	A	-	2	0	PSME2	23685593	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	2.980000	0.49321	2.714000	0.92807	0.561000	0.74099	GCC		0.627	PSME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071918.3	NM_002818		A	24615753	G	A	24615753	3	1	734	1	0	0	0	0	1	0	0	0	12712	1203	42	2	725	2	PSME2	14	24615753	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	86518	24615753	82733787	689	42108											
TSSK4	283629	broad.mit.edu;mdanderson.org;bcgsc.ca	37	14	24675808	24675808	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:24675808G>A	ENST00000287913.6	+	2	487	c.319G>A	c.(319-321)Ggt>Agt	p.G107S	TSSK4_ENST00000339917.5_Missense_Mutation_p.G107S|TM9SF1_ENST00000556387.1_Intron|TSSK4_ENST00000556621.1_Missense_Mutation_p.G31S|TSSK4_ENST00000428351.2_Intron|TM9SF1_ENST00000530611.1_Intron			Q6SA08	TSSK4_HUMAN	testis-specific serine kinase 4	107	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|positive regulation of CREB transcription factor activity (GO:0032793)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8				GBM - Glioblastoma multiforme(265;0.018)		ACTGGCTCAGGGTGGTGATGT	0.547																																																0													151	128	136					14																	24675808		2203	4300	6503	SO:0001583	missense	283629			AF542390	CCDS9618.1, CCDS53890.1	14q11.2	2006-03-31	2005-03-10	2005-03-12	ENSG00000139908	ENSG00000139908			19825	protein-coding gene	gene with protein product	"chromosome 14 open reading frame 20"	610711	"serine/threonine kinase 22E"	C14orf20, STK22E			Standard	NM_174944		Approved		uc001wnh.3	Q6SA08	OTTHUMG00000029323	ENST00000287913.6:c.319G>A	14.37:g.24675808G>A	ENSP00000287913:p.Gly107Ser		Q2TA60|Q6ZNM2	Missense_Mutation	SNP	ENST00000287913.6	37	CCDS9618.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.80|15.80	2.939586|2.939586	0.52972|0.52972	.|.	.|.	ENSG00000139908|ENSG00000139908	ENST00000555092|ENST00000339917;ENST00000556621;ENST00000287913	.|T;T;T	.|0.32988	.|1.43;1.43;1.43	4.97|4.97	4.97|4.97	0.65823|0.65823	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000|0.000000	0.52532|0.52532	D|D	0.000068|0.000068	T|T	0.40272|0.40272	0.1110|0.1110	M|M	0.71206|0.71206	2.165|2.165	0.80722|0.80722	D|D	1|1	.|P;P	.|0.37423	.|0.539;0.594	.|B;P	.|0.45167	.|0.341;0.472	T|T	0.23691|0.23691	-1.0181|-1.0181	6|10	.|0.45353	.|T	.|0.12	.|.	10.7571|10.7571	0.46243|0.46243	0.0:0.0:0.8106:0.1894|0.0:0.0:0.8106:0.1894	.|.	.|107;107	.|Q6SA08-2;Q6SA08	.|.;TSSK4_HUMAN	E|S	101|107;31;107	.|ENSP00000339179:G107S;ENSP00000452054:G31S;ENSP00000287913:G107S	.|ENSP00000287913:G107S	G|G	+|+	2|1	0|0	TSSK4|TSSK4	23745648|23745648	0.486000|0.486000	0.25980|0.25980	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	1.702000|1.702000	0.37836|0.37836	2.583000|2.583000	0.87209|0.87209	0.462000|0.462000	0.41574|0.41574	GGG|GGT		0.547	TSSK4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000073139.3	NM_174944		A	24675808	G	A	24675808	3	1	734	1	0	0	0	0	1	0	0	0	16676	1232	43	2	325	2	TSSK4	14	24675808	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	60055	24675808	82673732	690	42109											
TINF2	26277	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	14	24709841	24709841	+	Missense_Mutation	SNP	C	C	T	rs121918544		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:24709841C>T	ENST00000267415.7	-	6	1186	c.845G>A	c.(844-846)cGc>cAc	p.R282H	TINF2_ENST00000538777.1_Missense_Mutation_p.R68H|TINF2_ENST00000558510.1_5'Flank|TINF2_ENST00000558566.1_3'UTR|TINF2_ENST00000399423.4_Missense_Mutation_p.R282H|TINF2_ENST00000540705.1_Missense_Mutation_p.R247H|TINF2_ENST00000559019.1_3'UTR	NM_001099274.1	NP_001092744.1	Q9BSI4	TINF2_HUMAN	TERF1 (TRF1)-interacting nuclear factor 2	282			R -> H (in DKCA3 and DKCA5). {ECO:0000269|PubMed:18252230}.|R -> S (in DKCA3). {ECO:0000269|PubMed:18252230}.		negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of protein ADP-ribosylation (GO:0010836)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of telomere maintenance (GO:0032206)|protein localization to chromosome (GO:0034502)|protein localization to chromosome, telomeric region (GO:0070198)|telomere assembly (GO:0032202)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)	chromosome, telomeric region (GO:0000781)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinucleolar chromocenter (GO:0010370)	telomeric DNA binding (GO:0042162)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0185)		GACTGTGGGGCGCTCCTTATG	0.552									Congenital Dyskeratosis;Ataxia Pancytopenia syndrome																																							0			GRCh37	CM080574	TINF2	M	rs121918544						72	69	70					14																	24709841		1959	4153	6112	SO:0001583	missense	26277	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita;Myelocerebellar disorder	AF195512	CCDS41936.1, CCDS41937.1	14q12	2008-07-29				ENSG00000092330			11824	protein-coding gene	gene with protein product		604319				10581025, 18252230	Standard	NM_012461		Approved	TIN2	uc001woa.4	Q9BSI4		ENST00000267415.7:c.845G>A	14.37:g.24709841C>T	ENSP00000267415:p.Arg282His		B3W5Q7|Q9H904|Q9UHC2	Missense_Mutation	SNP	ENST00000267415.7	37	CCDS41936.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.084034	0.55861	.	.	ENSG00000092330	ENST00000267415;ENST00000540705;ENST00000399423;ENST00000538777	D;D;D;D	0.94184	-2.97;-2.98;-2.96;-3.37	5.16	5.16	0.70880	.	0.338213	0.29002	N	0.013456	D	0.90830	0.7120	M	0.66939	2.045	0.41571	A	0.988685	P;P	0.41710	0.76;0.76	B;B	0.32533	0.147;0.147	D	0.94700	0.7882	9	0.87932	D	0	-14.2187	14.1675	0.65488	0.0:1.0:0.0:0.0	.	247;282	B4DFJ1;Q9BSI4	.;TINF2_HUMAN	H	282;247;282;68	ENSP00000267415:R282H;ENSP00000442154:R247H;ENSP00000382350:R282H;ENSP00000437495:R68H	ENSP00000267415:R282H	R	-	2	0	TINF2	23779681	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.482000	0.53186	2.404000	0.81709	0.462000	0.41574	CGC		0.552	TINF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415406.2			T	24709841	C	T	24709841	3	4	734	1	0	0	0	0	1	0	0	0	15928	768	27	1	530	1	TINF2	14	24709841	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	34033	24709841	82639699	691	42110											
NYNRIN	57523	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	14	24877295	24877295	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:24877295G>A	ENST00000382554.3	+	3	737	c.419G>A	c.(418-420)cGa>cAa	p.R140Q		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	140					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)	p.R140Q(1)		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						CTGGTGGGGCGACTGCGCTGG	0.682																																																1	Substitution - Missense(1)	prostate(1)											34	40	38					14																	24877295		2027	4175	6202	SO:0001583	missense	57523			AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"Cousin of GIN1"		"KIAA1305"	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.419G>A	14.37:g.24877295G>A	ENSP00000371994:p.Arg140Gln		Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	G	19.82	3.897699	0.72639	.	.	ENSG00000205978	ENST00000382554	T	0.14640	2.49	4.93	4.04	0.47022	.	0.120816	0.27262	N	0.020170	T	0.14270	0.0345	M	0.65975	2.015	0.25000	N	0.991479	B	0.29612	0.251	B	0.21917	0.037	T	0.20273	-1.0280	10	0.87932	D	0	.	7.2114	0.25935	0.194:0.0:0.806:0.0	.	140	Q9P2P1	NYNRI_HUMAN	Q	140	ENSP00000371994:R140Q	ENSP00000371994:R140Q	R	+	2	0	NYNRIN	23947135	0.838000	0.29461	0.923000	0.36655	0.905000	0.53344	2.990000	0.49401	1.297000	0.44761	0.563000	0.77884	CGA		0.682	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			A	24877295	G	A	24877295	3	1	734	1	0	0	0	0	1	0	0	0	10798	1058	37	1	425	1	NYNRIN	14	24877295	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	167454	24877295	82472245	692	42111											
NYNRIN	57523	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	14	24879316	24879316	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:24879316C>T	ENST00000382554.3	+	4	2634	c.2316C>T	c.(2314-2316)caC>caT	p.H772H		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	772					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						AGAGGTACCACGAGGCCCTGA	0.627																																																0													47	52	50					14																	24879316		2105	4231	6336	SO:0001819	synonymous_variant	57523			AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"Cousin of GIN1"		"KIAA1305"	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.2316C>T	14.37:g.24879316C>T			Q6P153|Q86TR3|Q9HAC4	Silent	SNP	ENST00000382554.3	37	CCDS45090.1																																																																																				0.627	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			T	24879316	C	T	24879316	2	4	734	1	0	0	0	0	0	0	0	1	10798	535	19	1		1	NYNRIN	14	24879316	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	2021	24879316	82470224	693	42112											
HECTD1	25831	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	14	31609189	31609189	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:31609189G>A	ENST00000399332.1	-	19	3376	c.2888C>T	c.(2887-2889)gCg>gTg	p.A963V	HECTD1_ENST00000553700.1_Missense_Mutation_p.A963V|RNU6-541P_ENST00000384709.1_RNA	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	963					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)	p.A963_V971delALIRKLIAV(1)		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)		TCGAATTAACGCAACTGCTGG	0.338																																																1	Deletion - In frame(1)	breast(1)											123	115	118					14																	31609189		1825	4090	5915	SO:0001583	missense	25831			AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"Ankyrin repeat domain containing"	20157	protein-coding gene	gene with protein product			"HECT domain containing 1"			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.2888C>T	14.37:g.31609189G>A	ENSP00000382269:p.Ala963Val		D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	CCDS41939.1	.	.	.	.	.	.	.	.	.	.	G	13.06	2.125292	0.37533	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000553957	T;T;T	0.41400	1.0;1.0;1.5	5.89	5.01	0.66863	Armadillo-type fold (1);	0.000000	0.64402	U	0.000001	T	0.25082	0.0609	L	0.27053	0.805	0.80722	D	1	P;B	0.40250	0.709;0.008	B;B	0.30251	0.113;0.002	T	0.05666	-1.0871	10	0.11182	T	0.66	-13.4886	14.9607	0.71156	0.0681:0.0:0.9319:0.0	.	963;963	D3DS86;Q9ULT8	.;HECD1_HUMAN	V	963;965;963;437	ENSP00000450697:A963V;ENSP00000382269:A963V;ENSP00000451860:A437V	ENSP00000261312:A965V	A	-	2	0	HECTD1	30678940	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.738000	0.84966	1.506000	0.48736	0.655000	0.94253	GCG		0.338	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			A	31609189	G	A	31609189	3	1	734	1	0	0	0	0	1	0	0	0	7041	1087	38	1	5044	1	HECTD1	14	31609189	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	6729873	31609189	75740351	694	42113											
NPAS3	64067	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	14	34145548	34145548	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:34145548C>T	ENST00000356141.4	+	6	690	c.690C>T	c.(688-690)gcC>gcT	p.A230A	NPAS3_ENST00000548645.1_Silent_p.A200A|NPAS3_ENST00000551008.1_Silent_p.A128A|NPAS3_ENST00000551492.1_Silent_p.A235A|NPAS3_ENST00000346562.2_Silent_p.A198A|NPAS3_ENST00000547068.1_Silent_p.A126A|NPAS3_ENST00000357798.5_Silent_p.A217A|NPAS3_ENST00000341321.4_Silent_p.A230A			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	230					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)		AGGACGGAGCCAGCTCAGCAT	0.622																																																0													56	54	55					14																	34145548		2203	4300	6503	SO:0001819	synonymous_variant	64067			AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"Basic helix-loop-helix proteins"	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.690C>T	14.37:g.34145548C>T			Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Silent	SNP	ENST00000356141.4	37	CCDS53891.1																																																																																				0.622	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1			T	34145548	C	T	34145548	2	4	734	1	0	0	0	0	0	0	0	1	10566	581	21	2		2	NPAS3	14	34145548	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	2536359	34145548	73203992	695	42114											
SDCCAG1	9147	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	14	50272839	50272839	+	Missense_Mutation	SNP	G	G	A	rs374912149		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:50272839G>A	ENST00000298310.5	-	19	2206	c.1757C>T	c.(1756-1758)cCc>cTc	p.P586L	NEMF_ENST00000556925.1_5'UTR|NEMF_ENST00000546046.1_Missense_Mutation_p.P565L|NEMF_ENST00000545773.1_Missense_Mutation_p.P544L			O60524	NEMF_HUMAN	nuclear export mediator factor	586					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						GGTCCGTGGGGGGATGGGTTC	0.473																																																0								G	LEU/PRO	0,4406		0,0,2203	97	81	86		1757	6	1	14		86	1,8599		0,1,4299	no	missense	NEMF	NM_004713.3	98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	586/1077	50272839	1,13005	2203	4300	6503	SO:0001583	missense	9147			AF039687	CCDS9694.1	14q21.3	2012-11-19	2011-01-31	2011-01-31	ENSG00000165525	ENSG00000165525			10663	protein-coding gene	gene with protein product		608378	"serologically defined colon cancer antigen 1"	SDCCAG1		9610721, 10575219	Standard	XR_429334		Approved	NY-CO-1, FLJ10051	uc001wxc.3	O60524	OTTHUMG00000170857	ENST00000298310.5:c.1757C>T	14.37:g.50272839G>A	ENSP00000298310:p.Pro586Leu		A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	Missense_Mutation	SNP	ENST00000298310.5	37	CCDS9694.1	.	.	.	.	.	.	.	.	.	.	G	33	5.237392	0.95240	0.0	1.16E-4	ENSG00000165525	ENST00000298310;ENST00000545773;ENST00000546046;ENST00000534912;ENST00000555970	T;T;T;T	0.59083	0.29;0.36;0.45;0.36	6.01	6.01	0.97437	Domain of unknown function DUF814 (1);	0.000000	0.85682	D	0.000000	D	0.83454	0.5258	M	0.93720	3.45	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;0.997;0.999;0.999	D	0.86229	0.1636	10	0.66056	D	0.02	-9.9353	20.1162	0.97934	0.0:0.0:1.0:0.0	.	565;561;544;586	O60524-3;O60524-5;O60524-4;O60524	.;.;.;NEMF_HUMAN	L	586;544;565;358;544	ENSP00000298310:P586L;ENSP00000438309:P544L;ENSP00000441016:P565L;ENSP00000452540:P544L	ENSP00000298310:P586L	P	-	2	0	NEMF	49342589	1.000000	0.71417	0.969000	0.41365	0.983000	0.72400	8.734000	0.91543	2.861000	0.98227	0.650000	0.86243	CCC		0.473	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410798.1	NM_004713		A	50272839	G	A	50272839	3	1	734	1	0	0	0	0	1	0	0	0	13963	1232	43	2	1533	2	SDCCAG1	14	50272839	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	16127291	50272839	57076701	696	42115											
NIN	51199	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	14	51245506	51245506	+	Missense_Mutation	SNP	C	C	T	rs190295991	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:51245506C>T	ENST00000382041.3	-	6	642	c.452G>A	c.(451-453)cGc>cAc	p.R151H	NIN_ENST00000245441.5_Missense_Mutation_p.R151H|NIN_ENST00000382043.4_Missense_Mutation_p.R151H|NIN_ENST00000453196.1_Missense_Mutation_p.R151H|NIN_ENST00000389868.3_Missense_Mutation_p.R151H|NIN_ENST00000324330.9_Missense_Mutation_p.R151H|NIN_ENST00000530997.2_Missense_Mutation_p.R151H	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	151					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					CTCCTCACTGCGTTGCGTCTT	0.512			T	PDGFRB	MPD								C|||	3	0.000599042	0.0	0.0	5008	,	,		18810	0.003		0.0	False		,,,				2504	0.0						Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	0								C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	133	108	117		452,452,452,452	-5.1	0	14		117	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense,missense	NIN	NM_016350.4,NM_020921.3,NM_182944.2,NM_182946.1	29,29,29,29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign,benign,benign,benign	151/1378,151/2134,151/2047,151/2091	51245506	2,13004	2203	4300	6503	SO:0001583	missense	51199			AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"EF-hand domain containing"	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.452G>A	14.37:g.51245506C>T	ENSP00000371472:p.Arg151His		A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	ENST00000382041.3	37	CCDS32079.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	C	15.77	2.930127	0.52759	0.0	2.33E-4	ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000389868;ENST00000382043;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196;ENST00000453401	T;T;T;T;T;T;T	0.22743	1.94;1.94;1.94;1.94;1.94;1.94;1.94	5.3	-5.11	0.02901	.	0.773947	0.12806	N	0.437624	T	0.04588	0.0125	N	0.03115	-0.41	0.09310	N	0.999999	B;B;B;B;B	0.16166	0.01;0.016;0.007;0.0;0.006	B;B;B;B;B	0.06405	0.002;0.002;0.002;0.0;0.001	T	0.29366	-1.0014	10	0.33141	T	0.24	3.2268	7.5949	0.28041	0.0:0.2535:0.2088:0.5377	.	157;151;151;151;151	Q8N4C6-5;C9J066;Q8N4C6;Q5BKU3;Q8N4C6-7	.;.;NIN_HUMAN;.;.	H	151;151;151;151;157;151;151;151;113	ENSP00000245441:R151H;ENSP00000374518:R151H;ENSP00000371474:R151H;ENSP00000371472:R151H;ENSP00000324210:R151H;ENSP00000412391:R151H;ENSP00000398641:R113H	ENSP00000245441:R151H	R	-	2	0	NIN	50315256	0.000000	0.05858	0.012000	0.15200	0.841000	0.47740	-1.605000	0.02074	-0.845000	0.04179	-0.345000	0.07892	CGC		0.512	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		T	51245506	C	T	51245506	3	4	734	1	0	0	0	0	1	0	0	0	10419	768	27	1	6201	1	NIN	14	51245506	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	972667	51245506	56104034	697	42116											
GPR137C	283554	broad.mit.edu;mdanderson.org;bcgsc.ca	37	14	53100600	53100600	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:53100600G>A	ENST00000321662.6	+	6	1048	c.1048G>A	c.(1048-1050)Gac>Aac	p.D350N		NM_001099652.1	NP_001093122.1	Q8N3F9	G137C_HUMAN	G protein-coupled receptor 137C	350						integral component of membrane (GO:0016021)				NS(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8	Breast(41;0.0716)					TTACTTTTTCGACAATCCAAG	0.393																																																0													121	115	117					14																	53100600		1896	4119	6015	SO:0001583	missense	283554			BX647179	CCDS45106.1	14q22.1	2012-08-10				ENSG00000180998			25445	protein-coding gene	gene with protein product							Standard	NM_001099652		Approved	DKFZp762F0713, TM7SF1L2	uc001wzu.4	Q8N3F9		ENST00000321662.6:c.1048G>A	14.37:g.53100600G>A	ENSP00000315106:p.Asp350Asn		Q86SM2	Missense_Mutation	SNP	ENST00000321662.6	37	CCDS45106.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.280854|5.280854	0.95489|0.95489	.|.	.|.	ENSG00000180998|ENSG00000180998	ENST00000321662|ENST00000542169	T|.	0.60797|.	0.16|.	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72028|0.72028	0.3410|0.3410	L|L	0.53561|0.53561	1.675|1.675	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.998;0.998|.	T|T	0.67476|0.67476	-0.5661|-0.5661	10|5	0.45353|.	T|.	0.12|.	-19.2591|-19.2591	19.8667|19.8667	0.96806|0.96806	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	350;179|.	Q8N3F9;B3KW22|.	G137C_HUMAN;.|.	N|Q	350|319	ENSP00000315106:D350N|.	ENSP00000315106:D350N|.	D|R	+|+	1|2	0|0	GPR137C|GPR137C	52170350|52170350	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.988000|0.988000	0.76386|0.76386	9.174000|9.174000	0.94824|0.94824	2.773000|2.773000	0.95371|0.95371	0.655000|0.655000	0.94253|0.94253	GAC|CGA		0.393	GPR137C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411685.1	XM_290615		A	53100600	G	A	53100600	3	1	734	1	0	0	0	0	1	0	0	0	6649	1058	37	1	1070	1	GPR137C	14	53100600	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1855094	53100600	54248940	698	42117											
SYT16	83851	broad.mit.edu;bcgsc.ca	37	14	62463128	62463128	+	Missense_Mutation	SNP	C	C	T	rs533386682		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:62463128C>T	ENST00000430451.2	+	1	588	c.391C>T	c.(391-393)Cgc>Tgc	p.R131C	SYT16_ENST00000446982.2_Missense_Mutation_p.R131C	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	131			R -> L (in dbSNP:rs17099370). {ECO:0000269|PubMed:15238157}.		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)		CAGTGATGACCGCAAGTTACC	0.502													C|||	1	0.000199681	0.0	0.0	5008	,	,		20897	0.0		0.0	False		,,,				2504	0.001															0													131	122	125					14																	62463128		1905	4122	6027	SO:0001583	missense	83851			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.391C>T	14.37:g.62463128C>T	ENSP00000394700:p.Arg131Cys		B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Missense_Mutation	SNP	ENST00000430451.2	37	CCDS45121.1	.	.	.	.	.	.	.	.	.	.	C	4.550	0.102148	0.08731	.	.	ENSG00000139973	ENST00000446982;ENST00000430451	T;T	0.32272	1.46;3.72	5.45	4.54	0.55810	.	0.450724	0.18822	N	0.130228	T	0.13329	0.0323	N	0.08118	0	0.09310	N	1	P;P	0.41978	0.61;0.767	B;B	0.36885	0.235;0.183	T	0.05716	-1.0868	10	0.38643	T	0.18	-9.7901	5.7569	0.18178	0.1541:0.6415:0.1314:0.0729	.	131;131	B4DZH2;Q17RD7	.;SYT16_HUMAN	C	131	ENSP00000388023:R131C;ENSP00000394700:R131C	ENSP00000394700:R131C	R	+	1	0	SYT16	61532881	0.002000	0.14202	0.264000	0.24511	0.256000	0.26092	0.467000	0.22035	1.455000	0.47813	0.655000	0.94253	CGC		0.502	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000411700.1	NM_031914		T	62463128	C	T	62463128	3	4	734	1	0	0	0	0	1	0	0	0	15477	652	23	1	393	1	SYT16	14	62463128	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	9362528	62463128	44886412	699	42118											
ZFYVE1	53349	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	14	73441651	73441651	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:73441651G>A	ENST00000556143.1	-	10	2543	c.1823C>T	c.(1822-1824)gCg>gTg	p.A608V	ZFYVE1_ENST00000554145.1_5'UTR|ZFYVE1_ENST00000553891.1_Missense_Mutation_p.A608V|ZFYVE1_ENST00000555072.1_Missense_Mutation_p.A193V|ZFYVE1_ENST00000318876.5_Missense_Mutation_p.A594V|ZFYVE1_ENST00000394207.2_Missense_Mutation_p.A193V	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	608					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)		AAAGGACGTCGCACACTTGTT	0.527																																																0													81	77	78					14																	73441651		2203	4300	6503	SO:0001583	missense	53349			AF251025	CCDS9811.1, CCDS41969.1, CCDS61498.1	14q24.2	2014-06-13	2003-02-28	2003-03-07		ENSG00000165861		"Zinc fingers, FYVE domain containing"	13180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 172"	605471	"zinc finger protein, subfamily 2A (FYVE domain containing), 1"	ZNFN2A1		11024279, 11256955	Standard	NM_021260		Approved	DFCP1, KIAA1589, TAFF1, PPP1R172	uc001xnm.3	Q9HBF4		ENST00000556143.1:c.1823C>T	14.37:g.73441651G>A	ENSP00000450742:p.Ala608Val		J3KNL9|Q8WYX7|Q96K57|Q9BXP9|Q9HCI3	Missense_Mutation	SNP	ENST00000556143.1	37	CCDS9811.1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.644266	0.47258	.	.	ENSG00000165861	ENST00000553891;ENST00000318876;ENST00000556143;ENST00000394207;ENST00000555072	T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06	6.17	4.3	0.51218	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.753997	0.13519	N	0.381842	T	0.65842	0.2730	L	0.34521	1.04	0.09310	N	0.999998	B;B	0.31256	0.316;0.126	B;B	0.24006	0.05;0.041	T	0.56932	-0.7897	10	0.54805	T	0.06	-12.6079	9.4951	0.38984	0.0:0.2226:0.4171:0.3602	.	608;608	G3V5N8;Q9HBF4	.;ZFYV1_HUMAN	V	608;594;608;193;193	ENSP00000452442:A608V;ENSP00000326921:A594V;ENSP00000450742:A608V;ENSP00000377757:A193V;ENSP00000452232:A193V	ENSP00000326921:A608V	A	-	2	0	ZFYVE1	72511404	0.793000	0.28825	1.000000	0.80357	0.994000	0.84299	1.786000	0.38694	0.880000	0.35969	0.655000	0.94253	GCG		0.527	ZFYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413172.1	NM_021260		A	73441651	G	A	73441651	3	1	734	1	0	0	0	0	1	0	0	0	17668	1087	38	1	522	1	ZFYVE1	14	73441651	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	10978523	73441651	33907889	700	42119											
RBM25	58517	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	14	73570174	73570174	+	Missense_Mutation	SNP	G	G	A	rs202176813		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:73570174G>A	ENST00000261973.7	+	10	1427	c.1142G>A	c.(1141-1143)cGc>cAc	p.R381H	RBM25_ENST00000527432.1_Missense_Mutation_p.R381H	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	381	Arg-rich.|Glu-rich.|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)		AATAAGGATCGCAGTCGATCA	0.468																																																0													73	64	67					14																	73570174		2203	4300	6503	SO:0001583	missense	58517			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.1142G>A	14.37:g.73570174G>A	ENSP00000261973:p.Arg381His		A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Missense_Mutation	SNP	ENST00000261973.7	37	CCDS32113.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.205316	0.58234	.	.	ENSG00000119707	ENST00000261973;ENST00000527432	T;T	0.15952	2.38;2.38	5.75	5.75	0.90469	.	0.053390	0.85682	D	0.000000	T	0.14787	0.0357	L	0.34521	1.04	0.80722	D	1	P	0.42483	0.781	B	0.35240	0.198	T	0.01706	-1.1291	10	0.46703	T	0.11	.	17.7126	0.88326	0.0:0.0:1.0:0.0	.	381	P49756	RBM25_HUMAN	H	381	ENSP00000261973:R381H;ENSP00000431150:R381H	ENSP00000261973:R381H	R	+	2	0	RBM25	72639927	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	8.547000	0.90665	2.712000	0.92718	0.655000	0.94253	CGC		0.468	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394966.1	XM_027330		A	73570174	G	A	73570174	3	1	734	1	0	0	0	0	1	0	0	0	13131	1087	38	1	1176	1	RBM25	14	73570174	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	128523	73570174	33779366	701	42120											
YLPM1	56252	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	14	75302098	75302098	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:75302098G>A	ENST00000552421.1	+	19	4431	c.4307G>A	c.(4306-4308)cGa>cAa	p.R1436Q	YLPM1_ENST00000325680.7_Missense_Mutation_p.R2142Q			P49750	YLPM1_HUMAN	YLP motif containing 1	1947					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)		GCCCTCAATCGAACCAAATAT	0.413																																																0													96	97	97					14																	75302098		1872	4103	5975	SO:0001583	missense	56252			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	ENST00000552421.1:c.4307G>A	14.37:g.75302098G>A	ENSP00000447921:p.Arg1436Gln		P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	ENST00000552421.1	37		.	.	.	.	.	.	.	.	.	.	G	21.6	4.179110	0.78564	.	.	ENSG00000119596	ENST00000552421;ENST00000325680	T;T	0.36699	1.24;1.24	5.9	5.9	0.94986	.	0.000000	0.64402	D	0.000018	T	0.49626	0.1568	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.45293	-0.9271	10	0.46703	T	0.11	-8.0289	20.2768	0.98488	0.0:0.0:1.0:0.0	.	2142	P49750-4	.	Q	1436;2142	ENSP00000447921:R1436Q;ENSP00000324463:R2142Q	ENSP00000324463:R2142Q	R	+	2	0	YLPM1	74371851	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.797000	0.96272	0.655000	0.94253	CGA		0.413	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589		A	75302098	G	A	75302098	3	1	734	1	0	0	0	0	1	0	0	0	17491	1058	37	1	6503	1	YLPM1	14	75302098	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1731924	75302098	32047442	702	42121											
NEK9	91754	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	14	75555313	75555313	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:75555313G>T	ENST00000238616.5	-	20	2632	c.2474C>A	c.(2473-2475)cCt>cAt	p.P825H		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	825	Interaction with NEK6.|Pro/Ser/Thr-rich.				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)		TGGGCTGTCAGGCATGGGGAT	0.448											OREG0022811	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													103	94	97					14																	75555313		2203	4300	6503	SO:0001583	missense	91754			AY048580	CCDS9839.1	14q24.2	2012-11-15	2012-11-15		ENSG00000119638	ENSG00000119638			18591	protein-coding gene	gene with protein product		609798	"NIMA (never in mitosis gene a)- related kinase 9"			11864968	Standard	NM_033116		Approved	Nek8, NERCC, DKFZp434D0935, MGC16714	uc001xrl.3	Q8TD19	OTTHUMG00000171768	ENST00000238616.5:c.2474C>A	14.37:g.75555313G>T	ENSP00000238616:p.Pro825His	1161	Q52LK6|Q8NCN0|Q8TCY4|Q9UPI4|Q9Y6S4|Q9Y6S5|Q9Y6S6	Missense_Mutation	SNP	ENST00000238616.5	37	CCDS9839.1	.	.	.	.	.	.	.	.	.	.	G	31	5.071923	0.93950	.	.	ENSG00000119638	ENST00000238616	T	0.74632	-0.86	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.80592	0.4652	N	0.24115	0.695	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.76575	0.956;0.988	T	0.81745	-0.0792	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	825;168	Q8TD19;Q6PKF2	NEK9_HUMAN;.	H	825	ENSP00000238616:P825H	ENSP00000238616:P825H	P	-	2	0	NEK9	74625066	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.490000	0.97952	2.941000	0.99782	0.655000	0.94253	CCT		0.448	NEK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415021.1	NM_033116		T	75555313	G	T	75555313	3	4	734	1	0	0	0	0	1	0	0	0	10333	1000	35	4	477	4	NEK9	14	75555313	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	253215	75555313	31794227	703	42122											
GPR65	8477	broad.mit.edu;mdanderson.org;bcgsc.ca	37	14	88477823	88477823	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:88477823G>A	ENST00000267549.3	+	2	1190	c.632G>A	c.(631-633)cGg>cAg	p.R211Q	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	211					actin cytoskeleton reorganization (GO:0031532)|activation of Rho GTPase activity (GO:0032862)|apoptotic process (GO:0006915)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of stress fiber assembly (GO:0051496)|response to acidic pH (GO:0010447)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						CAAGCTGTGCGGCACAATAAA	0.423																																																0													58	57	57					14																	88477823		2203	4300	6503	SO:0001583	missense	8477			U95218	CCDS9879.1	14q31-q32.1	2012-08-21			ENSG00000140030	ENSG00000140030		"GPCR / Class A : Orphans"	4517	protein-coding gene	gene with protein product		604620				9655242	Standard	NM_003608		Approved	hTDAG8, TDAG8	uc001xvv.3	Q8IYL9	OTTHUMG00000028648	ENST00000267549.3:c.632G>A	14.37:g.88477823G>A	ENSP00000267549:p.Arg211Gln		O75819	Missense_Mutation	SNP	ENST00000267549.3	37	CCDS9879.1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.731479	0.30684	.	.	ENSG00000140030	ENST00000267549	T	0.42131	0.98	5.96	-8.89	0.00785	GPCR, rhodopsin-like superfamily (1);	1.610560	0.03651	N	0.240992	T	0.24928	0.0605	N	0.21282	0.65	0.09310	N	1	B	0.27316	0.175	B	0.23275	0.045	T	0.09662	-1.0664	10	0.20519	T	0.43	.	12.3078	0.54912	0.6519:0.0:0.2666:0.0815	.	211	Q8IYL9	PSYR_HUMAN	Q	211	ENSP00000267549:R211Q	ENSP00000267549:R211Q	R	+	2	0	GPR65	87547576	0.000000	0.05858	0.007000	0.13788	0.684000	0.39900	-1.016000	0.03633	-1.274000	0.02421	-0.133000	0.14855	CGG		0.423	GPR65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071564.4			A	88477823	G	A	88477823	3	1	734	1	0	0	0	0	1	0	0	0	6708	1116	39	1	634	1	GPR65	14	88477823	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	12922510	88477823	18871717	704	42123											
KCNK10	54207	broad.mit.edu;mdanderson.org	37	14	88652027	88652027	+	Missense_Mutation	SNP	G	G	A	rs370557951		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:88652027G>A	ENST00000340700.5	-	7	1920	c.1469C>T	c.(1468-1470)aCg>aTg	p.T490M	KCNK10_ENST00000312350.5_Missense_Mutation_p.T495M|KCNK10_ENST00000319231.5_Missense_Mutation_p.T495M	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	490					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						CATCTTTTCCGTCTCCTCCTC	0.502																																																0								G	MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	166	161	163		1469,1484,1484	3.6	0.2	14		163	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	KCNK10	NM_021161.4,NM_138317.2,NM_138318.2	81,81,81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	490/539,495/544,495/544	88652027	1,13005	2203	4300	6503	SO:0001583	missense	54207			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.1469C>T	14.37:g.88652027G>A	ENSP00000343104:p.Thr490Met		B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Missense_Mutation	SNP	ENST00000340700.5	37	CCDS9880.1	.	.	.	.	.	.	.	.	.	.	G	12.72	2.022338	0.35701	0.0	1.16E-4	ENSG00000100433	ENST00000340700;ENST00000312350;ENST00000319231	D;D;D	0.91180	-2.79;-2.8;-2.78	5.5	3.62	0.41486	.	1.171940	0.05778	N	0.608048	D	0.82370	0.5022	N	0.22421	0.69	0.09310	N	1	B;B;B	0.33904	0.431;0.431;0.431	B;B;B	0.24269	0.031;0.021;0.052	T	0.72747	-0.4200	10	0.72032	D	0.01	.	4.8714	0.13635	0.0817:0.1471:0.6189:0.1523	.	490;495;495	P57789;B2R8T4;Q6B014	KCNKA_HUMAN;.;.	M	490;495;495	ENSP00000343104:T490M;ENSP00000310568:T495M;ENSP00000312811:T495M	ENSP00000310568:T495M	T	-	2	0	KCNK10	87721780	0.070000	0.21116	0.171000	0.22900	0.939000	0.58152	1.814000	0.38972	0.650000	0.30769	0.655000	0.94253	ACG		0.502	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	NM_021161		A	88652027	G	A	88652027	3	1	734	1	0	0	0	0	1	0	0	0	8061	1145	40	1	151	1	KCNK10	14	88652027	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	174204	88652027	18697513	705	42124											
PTPN21	11099	broad.mit.edu;ucsc.edu;mdanderson.org	37	14	88945933	88945933	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:88945933C>T	ENST00000556564.1	-	13	2126	c.1842G>A	c.(1840-1842)gcG>gcA	p.A614A	PTPN21_ENST00000328736.3_Silent_p.A614A	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	614					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GCAGCGAGTGCGCCACGGGCA	0.687																																																0													19	19	19					14																	88945933		2200	4293	6493	SO:0001819	synonymous_variant	11099			X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.1842G>A	14.37:g.88945933C>T				Silent	SNP	ENST00000556564.1	37	CCDS9884.1																																																																																				0.687	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			T	88945933	C	T	88945933	2	4	734	1	0	0	0	0	0	0	0	1	12792	755	27	1		1	PTPN21	14	88945933	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	293906	88945933	18403607	706	42125											
TTC8	123016	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	14	89307767	89307767	+	Splice_Site	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:89307767A>G	ENST00000345383.5	+	5	543		c.e5-1		TTC8_ENST00000354441.6_Intron|TTC8_ENST00000338104.6_Splice_Site|TTC8_ENST00000536576.1_Intron|TTC8_ENST00000380656.2_Splice_Site|TTC8_ENST00000346301.4_Intron|TTC8_ENST00000358622.5_5'Flank|Y_RNA_ENST00000384612.1_RNA	NM_198309.2	NP_938051.1	Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8						axon guidance (GO:0007411)|camera-type eye photoreceptor cell differentiation (GO:0060219)|cilium assembly (GO:0042384)|establishment of anatomical structure orientation (GO:0048560)|fat cell differentiation (GO:0045444)|multicellular organism growth (GO:0035264)|nonmotile primary cilium assembly (GO:0035058)|olfactory bulb development (GO:0021772)|protein transport (GO:0015031)|regulation of protein localization (GO:0032880)|renal tubule development (GO:0061326)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)	BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TTTCCTCTGTAGGCTTCCATG	0.308																																																0													70	70	70					14																	89307767		2203	4298	6501	SO:0001630	splice_region_variant	123016			AK093891	CCDS9885.1, CCDS9886.1, CCDS32137.1, CCDS73674.1, CCDS73675.1	14q31.3	2013-02-14				ENSG00000165533		"Tetratricopeptide (TTC) repeat domain containing"	20087	protein-coding gene	gene with protein product		608132				14520415, 20451172	Standard	NM_144596		Approved	BBS8, RP51	uc001xxi.3	Q8TAM2		ENST00000345383.5:c.460-1A>G	14.37:g.89307767A>G			A6NFG2|B3KWA5|Q67B97|Q86SY0|Q86TV9|Q86U26|Q8NDH9|Q96DG8	Splice_Site	SNP	ENST00000345383.5	37	CCDS9885.1	.	.	.	.	.	.	.	.	.	.	A	17.48	3.401036	0.62288	.	.	ENSG00000165533	ENST00000343648;ENST00000345383;ENST00000338104;ENST00000380656;ENST00000556651	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7711	0.78170	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TTC8	88377520	1.000000	0.71417	0.985000	0.45067	0.836000	0.47400	8.876000	0.92379	2.136000	0.66102	0.460000	0.39030	.		0.308	TTC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410861.1	NM_144596	Intron	G	89307767	A	G	89307767	5	3	734	1	0	0	0	0	0	0	1	0	16719	434	15	3	510	3	TTC8	14	89307767	Splice_Site	SNP	A	TCGA-KN-8428-01A-11D-2310-10	361834	89307767	18041773	707	42126											
FOXN3	1112	broad.mit.edu	37	14	89817014	89817014	+	Splice_Site	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:89817014A>G	ENST00000345097.4	-	3	797		c.e3+1		RP11-356K23.1_ENST00000556942.1_RNA|FOXN3_ENST00000557258.1_Splice_Site|FOXN3_ENST00000555353.1_Splice_Site|FOXN3_ENST00000555658.1_Splice_Site|FOXN3_ENST00000261302.5_Splice_Site|RP11-356K23.1_ENST00000555407.1_RNA	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3						mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TGAATTGCTTACCTTTGATAT	0.393																																																0													178	160	166					14																	89817014		2203	4300	6503	SO:0001630	splice_region_variant	1112				CCDS32138.1, CCDS41977.1	14q32.11	2012-04-17	2007-05-02	2007-05-02	ENSG00000053254	ENSG00000053254		"Forkhead boxes"	1928	protein-coding gene	gene with protein product		602628	"chromosome 14 open reading frame 116", "checkpoint suppressor 1"	C14orf116, CHES1		9154802	Standard	NM_005197		Approved		uc001xxo.4	O00409	OTTHUMG00000170898	ENST00000345097.4:c.680+1T>C	14.37:g.89817014A>G			Q96II7|Q9UIE7	Splice_Site	SNP	ENST00000345097.4	37	CCDS41977.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.207484	0.79240	.	.	ENSG00000053254	ENST00000345097;ENST00000261302;ENST00000557258;ENST00000555353;ENST00000553840;ENST00000553353;ENST00000556916	.	.	.	6.04	6.04	0.98038	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5763	0.84648	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FOXN3	88886767	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.019000	0.93662	2.317000	0.78254	0.459000	0.35465	.		0.393	FOXN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410902.2	NM_005197	Intron	G	89817014	A	G	89817014	5	3	734	1	0	0	0	0	0	0	1	0	6023	405	14	3	810	3	FOXN3	14	89817014	Splice_Site	SNP	A	TCGA-KN-8428-01A-11D-2310-10	509247	89817014	17532526	708	42127											
RPS6KA5	9252	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	14	91366523	91366523	+	Missense_Mutation	SNP	A	A	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:91366523A>C	ENST00000261991.3	-	11	1481	c.1308T>G	c.(1306-1308)agT>agG	p.S436R	RPS6KA5_ENST00000536315.2_Missense_Mutation_p.S357R|RPS6KA5_ENST00000418736.2_Missense_Mutation_p.S436R	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	436	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|histone H2A-S1 phosphorylation (GO:0043990)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cytokine production (GO:0001818)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|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)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		AAATTGAAAAACTACCTTCTC	0.328																																																0													87	91	90					14																	91366523		2203	4299	6502	SO:0001583	missense	9252			AF074393	CCDS9893.1, CCDS45149.1	14q31-q32.1	2011-04-05	2002-08-29			ENSG00000100784			10434	protein-coding gene	gene with protein product		603607	"ribosomal protein S6 kinase, 90kD, polypeptide 5"			9687510, 10702687	Standard	NM_004755		Approved	MSK1, RLPK	uc001xys.2	O75582		ENST00000261991.3:c.1308T>G	14.37:g.91366523A>C	ENSP00000261991:p.Ser436Arg		O95316|Q96AF7	Missense_Mutation	SNP	ENST00000261991.3	37	CCDS9893.1	.	.	.	.	.	.	.	.	.	.	A	14.68	2.606994	0.46527	.	.	ENSG00000100784	ENST00000261991;ENST00000536315;ENST00000418736	T;T;T	0.53423	0.62;0.62;0.62	5.81	0.863	0.19062	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	0.56441	0.1985	L	0.46567	1.45	0.58432	D	0.999999	D;D	0.76494	0.957;0.999	P;D	0.77557	0.775;0.99	T	0.53767	-0.8392	10	0.87932	D	0	.	9.5152	0.39102	0.736:0.0:0.264:0.0	.	436;436	O75582-2;O75582	.;KS6A5_HUMAN	R	436;357;436	ENSP00000261991:S436R;ENSP00000442803:S357R;ENSP00000402787:S436R	ENSP00000261991:S436R	S	-	3	2	RPS6KA5	90436276	1.000000	0.71417	0.985000	0.45067	0.116000	0.19942	2.924000	0.48876	-0.079000	0.12707	-0.250000	0.11733	AGT		0.328	RPS6KA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411442.2	NM_004755		C	91366523	A	C	91366523	3	2	734	1	0	0	0	0	1	0	0	0	13660	40	2	5	1134	5	RPS6KA5	14	91366523	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	1549509	91366523	15983017	709	42128											
GOLGA5	9950	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	14	93277911	93277911	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:93277911C>T	ENST00000163416.2	+	6	1388	c.1132C>T	c.(1132-1134)Cgc>Tgc	p.R378C	GOLGA5_ENST00000355976.2_Missense_Mutation_p.R378C	NM_005113.2	NP_005104	Q8TBA6	GOGA5_HUMAN	golgin A5	378					Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		GTTTGCTGCACGCCTTAATAA	0.358			T	RET	papillary thyroid																																		Dom	yes		14	14q	9950	"golgi autoantigen, golgin subfamily a, 5  (PTC5)"		E	0													71	74	73					14																	93277911		2203	4300	6503	SO:0001583	missense	9950			AF085199	CCDS9905.1	14q32.12	2012-05-04	2010-02-12		ENSG00000066455	ENSG00000066455			4428	protein-coding gene	gene with protein product	"golgi integral membrane protein 5"	606918	"golgi autoantigen, golgin subfamily a, 5"			2734021, 9443391, 15004235	Standard	NM_005113		Approved	ret-II, golgin-84, rfg5, GOLIM5	uc001yaz.1	Q8TBA6	OTTHUMG00000171217	ENST00000163416.2:c.1132C>T	14.37:g.93277911C>T	ENSP00000163416:p.Arg378Cys		C9JRU1|O95287|Q03962|Q2TS49|Q9UQQ7	Missense_Mutation	SNP	ENST00000163416.2	37	CCDS9905.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.310531	0.60414	.	.	ENSG00000066455	ENST00000163416;ENST00000355976;ENST00000439315	T;T	0.55930	0.49;0.49	5.22	4.33	0.51752	.	0.130046	0.35262	N	0.003329	T	0.51958	0.1705	M	0.71581	2.175	0.80722	D	1	P	0.47106	0.89	B	0.38985	0.287	T	0.61098	-0.7131	10	0.87932	D	0	-2.9888	14.1378	0.65297	0.0:0.9268:0.0:0.0731	.	378	Q8TBA6	GOGA5_HUMAN	C	378;378;287	ENSP00000163416:R378C;ENSP00000348252:R378C	ENSP00000163416:R378C	R	+	1	0	GOLGA5	92347664	1.000000	0.71417	0.999000	0.59377	0.821000	0.46438	5.516000	0.67055	1.192000	0.43071	0.557000	0.71058	CGC		0.358	GOLGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412365.1			T	93277911	C	T	93277911	3	4	734	1	0	0	0	0	1	0	0	0	6558	536	19	1	1150	1	GOLGA5	14	93277911	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1911388	93277911	14071629	710	42129											
ATG2B	55102	broad.mit.edu;mdanderson.org;bcgsc.ca	37	14	96772058	96772058	+	Missense_Mutation	SNP	G	G	A	rs138090571		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:96772058G>A	ENST00000359933.4	-	31	5494	c.4601C>T	c.(4600-4602)aCg>aTg	p.T1534M	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1534					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)		GGCTTTGCTCGTATCGGTCTT	0.403																																																0								G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	134	122	126		4601	1.4	0	14	dbSNP_134	126	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ATG2B	NM_018036.5	81	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	possibly-damaging	1534/2079	96772058	2,13004	2203	4300	6503	SO:0001583	missense	55102			AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 103", "ATG2 autophagy related 2 homolog B (S. cerevisiae)"	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.4601C>T	14.37:g.96772058G>A	ENSP00000353010:p.Thr1534Met		Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	37	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	G	11.09	1.535650	0.27475	2.27E-4	1.16E-4	ENSG00000066739	ENST00000359933	T	0.48201	0.82	5.55	1.43	0.22495	.	0.856800	0.10787	N	0.634158	T	0.48822	0.1521	L	0.57536	1.79	0.09310	N	1	D	0.59767	0.986	B	0.42386	0.386	T	0.50074	-0.8870	10	0.48119	T	0.1	.	17.9381	0.89019	0.0:0.515:0.485:0.0	.	1534	Q96BY7	ATG2B_HUMAN	M	1534	ENSP00000353010:T1534M	ENSP00000261834:T178M	T	-	2	0	ATG2B	95841811	0.053000	0.20554	0.000000	0.03702	0.082000	0.17680	2.208000	0.42797	-0.005000	0.14395	-0.189000	0.12847	ACG		0.403	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		A	96772058	G	A	96772058	3	1	734	1	0	0	0	0	1	0	0	0	1094	1145	40	1	1683	1	ATG2B	14	96772058	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	3494147	96772058	10577482	711	42130											
PAPOLA	10914	broad.mit.edu	37	14	97014212	97014212	+	Missense_Mutation	SNP	T	T	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:97014212T>A	ENST00000216277.8	+	16	1698	c.1478T>A	c.(1477-1479)cTc>cAc	p.L493H	PAPOLA_ENST00000392990.2_Missense_Mutation_p.L493H	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	493					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)		AGAAAGCAACTCCATCAACTA	0.308																																					NSCLC(19;254 734 11908 35501 39234)											0													83	82	82					14																	97014212		2203	4298	6501	SO:0001583	missense	10914			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.1478T>A	14.37:g.97014212T>A	ENSP00000216277:p.Leu493His		Q86SX4|Q86TV0|Q8IYF5|Q9BVU2	Missense_Mutation	SNP	ENST00000216277.8	37	CCDS9946.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.622974	0.87460	.	.	ENSG00000090060	ENST00000216277;ENST00000546064;ENST00000392990;ENST00000555626	.	.	.	5.54	5.54	0.83059	Poly(A) polymerase, RNA-binding domain (2);Nucleotidyltransferase, class I, C-terminal-like (1);	0.000000	0.85682	D	0.000000	T	0.80706	0.4674	M	0.83774	2.66	0.80722	D	1	D;D;D	0.69078	0.997;0.987;0.997	D;D;D	0.77557	0.983;0.99;0.99	D	0.83960	0.0321	9	0.87932	D	0	.	15.6775	0.77338	0.0:0.0:0.0:1.0	.	509;509;493	F5H5I8;B4DYF4;P51003	.;.;PAPOA_HUMAN	H	493;509;493;243	.	ENSP00000216277:L493H	L	+	2	0	PAPOLA	96083965	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.693000	0.84214	2.104000	0.64026	0.533000	0.62120	CTC		0.308	PAPOLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413411.2			A	97014212	T	A	97014212	3	1	734	1	0	0	0	0	1	0	0	0	11431	1551	54	5	1540	5	PAPOLA	14	97014212	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	242154	97014212	10335328	712	42131											
HHIPL1	84439	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	14	100141822	100141822	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:100141822G>A	ENST00000330710.5	+	9	2306	c.2208G>A	c.(2206-2208)ctG>ctA	p.L736L		NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	736	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.				carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				GCGGCTCGCTGCCCATTCTGC	0.697																																																0													9	13	12					14																	100141822		688	1582	2270	SO:0001819	synonymous_variant	84439			AB058725	CCDS9953.1, CCDS45162.1	14q32	2008-01-16	2008-01-16	2008-01-16		ENSG00000182218			19710	protein-coding gene	gene with protein product			"KIAA1822"	KIAA1822			Standard	NM_032425		Approved		uc010avs.3	Q96JK4		ENST00000330710.5:c.2208G>A	14.37:g.100141822G>A			A2RUF8|B2RN09|Q6UXX2	Silent	SNP	ENST00000330710.5	37	CCDS45162.1																																																																																				0.697	HHIPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413811.1	XM_041566		A	100141822	G	A	100141822	2	1	734	1	0	0	0	0	0	0	0	1	7095	1306	46	2		2	HHIPL1	14	100141822	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	3127610	100141822	7207718	713	42132											
RTL1	388015	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	14	101350657	101350657	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:101350657C>T	ENST00000534062.1	-	1	527	c.469G>A	c.(469-471)Gag>Aag	p.E157K	MIR136_ENST00000385207.1_RNA|MIR127_ENST00000384876.1_RNA|MIR433_ENST00000384837.1_RNA|MIR432_ENST00000606207.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	157					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						GTTGAGTGCTCGGTCTGGTTT	0.522																																																0													268	231	242					14																	101350657		692	1591	2283	SO:0001583	missense	388015				CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.469G>A	14.37:g.101350657C>T	ENSP00000435342:p.Glu157Lys		E9PKS8	Missense_Mutation	SNP	ENST00000534062.1	37	CCDS53910.1	.	.	.	.	.	.	.	.	.	.	C	5.423	0.263163	0.10294	.	.	ENSG00000254656	ENST00000534062	T	0.21734	1.99	2.2	0.156	0.14910	.	.	.	.	.	T	0.07503	0.0189	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.40327	-0.9569	9	0.07175	T	0.84	.	4.2224	0.10565	0.0:0.5895:0.0:0.4105	.	157	E9PKS8	.	K	157	ENSP00000435342:E157K	ENSP00000435342:E157K	E	-	1	0	RTL1	100420410	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.172000	0.09868	0.018000	0.15052	0.555000	0.69702	GAG		0.522	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395127.1	NM_001134888		T	101350657	C	T	101350657	3	4	734	1	0	0	0	0	1	0	0	0	13730	893	31	1	3611	1	RTL1	14	101350657	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1208835	101350657	5998883	714	42133											
ZNF839	55778	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	14	102807759	102807759	+	Missense_Mutation	SNP	C	C	T	rs544983444	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:102807759C>T	ENST00000558850.1	+	8	2029	c.1679C>T	c.(1678-1680)cCg>cTg	p.P560L	ZNF839_ENST00000262236.5_Missense_Mutation_p.P562L|AL137229.1_ENST00000577622.1_RNA|ZNF839_ENST00000442396.2_Missense_Mutation_p.P676L|ZNF839_ENST00000559185.1_Missense_Mutation_p.P560L|ZNF839_ENST00000420933.2_3'UTR	NM_001267827.1	NP_001254756.1	A8K0R7	ZN839_HUMAN	zinc finger protein 839	560							metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CAGGCGGGCCCGCAGCTTCAG	0.557													C|||	3	0.000599042	0.0	0.0	5008	,	,		16604	0.0		0.0	False		,,,				2504	0.0031															0													61	62	62					14																	102807759		1970	4167	6137	SO:0001583	missense	55778			AK093342	CCDS45164.1, CCDS58336.1	14q32.32	2010-05-06	2008-06-23	2008-06-23	ENSG00000022976	ENSG00000022976			20345	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 131"	C14orf131			Standard	NM_018335		Approved		uc010awk.2	A8K0R7		ENST00000558850.1:c.1679C>T	14.37:g.102807759C>T	ENSP00000453363:p.Pro560Leu		B3KSD2|Q53FH5|Q6GPI5|Q86TU1|Q9BQ86|Q9NUU3	Missense_Mutation	SNP	ENST00000558850.1	37	CCDS58336.1	.	.	.	.	.	.	.	.	.	.	C	10.77	1.444871	0.25987	.	.	ENSG00000022976	ENST00000442396;ENST00000262236;ENST00000398436;ENST00000420933	T;T	0.16897	2.31;2.31	4.56	-4.45	0.03546	.	2.076230	0.02062	N	0.050829	T	0.07052	0.0179	N	0.04636	-0.2	0.09310	N	1	B;B;B	0.31077	0.307;0.134;0.134	B;B;B	0.24394	0.053;0.023;0.031	T	0.18967	-1.0320	10	0.45353	T	0.12	.	5.4007	0.16295	0.3927:0.2829:0.3244:0.0	.	676;562;560	A8K0R7-5;A8K0R7-2;A8K0R7	.;.;ZN839_HUMAN	L	676;562;228;94	ENSP00000399863:P676L;ENSP00000262236:P562L	ENSP00000262236:P562L	P	+	2	0	ZNF839	101877512	0.000000	0.05858	0.003000	0.11579	0.068000	0.16541	-0.134000	0.10436	-1.147000	0.02851	-0.578000	0.04140	CCG		0.557	ZNF839-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000415492.2	NM_018335		T	102807759	C	T	102807759	3	4	734	1	0	0	0	0	1	0	0	0	18193	652	23	1	2057	1	ZNF839	14	102807759	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1457102	102807759	4541781	715	42134											
C14orf73	91828	hgsc.bcm.edu	37	14	103568933	103568933	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:103568933G>A	ENST00000380069.3	+	2	949	c.873G>A	c.(871-873)caG>caA	p.Q291Q		NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN	exocyst complex component 3-like 4	291					exocytosis (GO:0006887)	exocyst (GO:0000145)				cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						GCGACCTGCAGAAGGTGCGGC	0.746																																																0													4	7	6					14																	103568933		1955	3925	5880	SO:0001819	synonymous_variant	91828			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.873G>A	14.37:g.103568933G>A			Q14CR2	Silent	SNP	ENST00000380069.3	37	CCDS32163.1																																																																																				0.746	EXOC3L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415663.1	XM_941093		A	103568933	G	A	103568933	2	1	734	1	0	0	0	0	0	0	0	1	1781	933	33	2		2	C14orf73	14	103568933	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	761174	103568933	3780607	716	42135											
CKB	1152	broad.mit.edu;mdanderson.org	37	14	103988669	103988669	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:103988669G>A	ENST00000348956.2	-	2	519	c.162C>T	c.(160-162)gaC>gaT	p.D54D	RP11-600F24.7_ENST00000568177.1_RNA	NM_001823.4	NP_001814.2	P12277	KCRB_HUMAN	creatine kinase, brain	54	Phosphagen kinase N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00842}.				cellular chloride ion homeostasis (GO:0030644)|cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			lung(2)|prostate(1)	3		Melanoma(154;0.155)	Epithelial(46;0.14)		Creatine(DB00148)	GGATGACGTCGTCCAGCGTGA	0.726																																					Esophageal Squamous(186;2492 2823 49929 50127)											0													46	45	45					14																	103988669		2200	4298	6498	SO:0001819	synonymous_variant	1152				CCDS9981.1	14q32.32	2012-10-02			ENSG00000166165	ENSG00000166165	2.7.3.2		1991	protein-coding gene	gene with protein product		123280		CKBB			Standard	NM_001823		Approved		uc001ynf.2	P12277	OTTHUMG00000171786	ENST00000348956.2:c.162C>T	14.37:g.103988669G>A			A8K236|B2R5R4|Q2LE07|Q6FG40|Q9UC66	Silent	SNP	ENST00000348956.2	37	CCDS9981.1																																																																																				0.726	CKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415111.1			A	103988669	G	A	103988669	2	1	734	1	0	0	0	0	0	0	0	1	3448	1136	40	1		1	CKB	14	103988669	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	419736	103988669	3360871	717	42136											
TDRD9	122402	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	14	104431775	104431775	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:104431775C>T	ENST00000409874.4	+	4	574	c.526C>T	c.(526-528)Cgc>Tgc	p.R176C	TDRD9_ENST00000554571.1_3'UTR|TDRD9_ENST00000339063.5_Missense_Mutation_p.R176C	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	176	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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)				CTACGTTCAGCGCTCCGCCTA	0.562																																																0													81	77	78					14																	104431775		692	1591	2283	SO:0001583	missense	122402			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.526C>T	14.37:g.104431775C>T	ENSP00000387303:p.Arg176Cys		A1A4S7|Q6ZU54|Q8N7T3|Q8N827|Q8N9V5|Q96AS9	Missense_Mutation	SNP	ENST00000409874.4	37	CCDS9987.2	.	.	.	.	.	.	.	.	.	.	C	15.34	2.804306	0.50315	.	.	ENSG00000156414	ENST00000409874;ENST00000339063	T;T	0.15487	2.42;2.42	4.54	2.55	0.30701	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	.	.	.	.	T	0.33323	0.0859	L	0.60067	1.865	0.28715	N	0.903313	D	0.89917	1.0	D	0.66847	0.947	T	0.07578	-1.0765	9	0.87932	D	0	.	9.2326	0.37446	0.0:0.7723:0.1464:0.0813	.	176	Q8NDG6	TDRD9_HUMAN	C	176	ENSP00000387303:R176C;ENSP00000343545:R176C	ENSP00000343545:R176C	R	+	1	0	TDRD9	103501528	0.995000	0.38212	0.691000	0.30163	0.390000	0.30446	3.237000	0.51344	1.025000	0.39708	0.460000	0.39030	CGC		0.562	TDRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328325.3	NM_153046		T	104431775	C	T	104431775	3	4	734	1	0	0	0	0	1	0	0	0	15741	768	27	1	540	1	TDRD9	14	104431775	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	443106	104431775	2917765	718	42137											
KIAA0284	283638	mdanderson.org	37	14	105354293	105354293	+	Silent	SNP	A	A	G	rs2582548	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:105354293A>G	ENST00000414716.3	+	12	3945	c.3717A>G	c.(3715-3717)tcA>tcG	p.S1239S	CEP170B_ENST00000556508.1_Silent_p.S1169S|CEP170B_ENST00000453495.1_Silent_p.S1240S|CEP170B_ENST00000418279.1_Silent_p.S1169S	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	1239						cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.S1170S(1)|p.S1169S(1)|p.S1239S(1)									GGGCCCGCTCAGGCAGTGCCC	0.682													g|||	2823	0.563698	0.5454	0.6527	5008	,	,		15507	0.2272		0.7753	False		,,,				2504	0.6544															3	Substitution - coding silent(3)	prostate(3)							,	2278,1490		703,872,309	4	5	4		3717,3507	-2	0.9	14	dbSNP_100	4	6255,1709		2492,1271,219	no	coding-synonymous,coding-synonymous	KIAA0284	NM_001112726.2,NM_015005.2	,	3195,2143,528	GG,GA,AA		21.4591,39.5435,27.2673	,	1239/1555,1169/1520	105354293	8533,3199	1884	3982	5866	SO:0001819	synonymous_variant	283638			AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"Cep170-related"		"KIAA0284"	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.3717A>G	14.37:g.105354293A>G			Q2KHR7|Q86TI7	Silent	SNP	ENST00000414716.3	37	CCDS45175.1																																																																																				0.682	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2	NM_001112726		G	105354293	A	G	105354293	2	3	734	1	0	0	0	0	0	0	0	1	8168	175	7	3		3	KIAA0284	14	105354293	Silent	SNP	A	TCGA-KN-8428-01A-11D-2310-10	922518	105354293	1995247	719	42138											
AHNAK2	113146	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	14	105416582	105416582	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:105416582C>T	ENST00000333244.5	-	7	5325	c.5206G>A	c.(5206-5208)Ggc>Agc	p.G1736S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1736						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)			CCTTTGAAGCCGGCTCCCTCG	0.637																																																0													85	97	93					14																	105416582		1811	4033	5844	SO:0001583	missense	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.5206G>A	14.37:g.105416582C>T	ENSP00000353114:p.Gly1736Ser		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	15.52	2.858847	0.51376	.	.	ENSG00000185567	ENST00000333244	T	0.01527	4.8	4.8	-4.57	0.03421	.	.	.	.	.	T	0.02083	0.0065	L	0.45581	1.43	0.09310	N	1	P	0.45240	0.854	P	0.46253	0.509	T	0.26395	-1.0104	9	0.08179	T	0.78	-4.5506	8.8196	0.35018	0.0:0.377:0.0985:0.5245	.	1736	Q8IVF2	AHNK2_HUMAN	S	1736	ENSP00000353114:G1736S	ENSP00000353114:G1736S	G	-	1	0	AHNAK2	104487627	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-0.303000	0.08210	-1.144000	0.02862	-1.256000	0.01477	GGC		0.637	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		T	105416582	C	T	105416582	3	4	734	1	0	0	0	0	1	0	0	0	415	652	23	1	12185	1	AHNAK2	14	105416582	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	62289	105416582	1932958	720	42139											
CYFIP1	23191	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	15	22999456	22999456	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:22999456C>T	ENST00000313077.7	+	29	3453	c.3328C>T	c.(3328-3330)Cgc>Tgc	p.R1110C	CYFIP1_ENST00000560848.1_Missense_Mutation_p.R1110C|CYFIP1_ENST00000435939.2_Missense_Mutation_p.R679C	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1									p.R1110C(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		CCCCATCTGGCGCGGGCCTCT	0.592																																																1	Substitution - Missense(1)	large_intestine(1)											59	59	59					15																	22999456		2203	4300	6503	SO:0001583	missense	23191			D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"selective hybridizing clone", "cytoplasmic FMRP interacting protein 1"	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.3328C>T	15.37:g.22999456C>T	ENSP00000324549:p.Arg1110Cys			Missense_Mutation	SNP	ENST00000313077.7	37	CCDS10009.1	.	.	.	.	.	.	.	.	.	.	C	31	5.063093	0.93898	.	.	ENSG00000068793	ENST00000313077;ENST00000412127;ENST00000435939	T;T	0.23754	1.89;1.89	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000002	T	0.31513	0.0799	N	0.17082	0.46	0.80722	D	1	B;D	0.63046	0.129;0.992	B;P	0.56088	0.022;0.791	T	0.05402	-1.0887	10	0.42905	T	0.14	-15.0561	19.4921	0.95054	0.0:1.0:0.0:0.0	.	679;1110	Q7L576-2;Q7L576	.;CYFP1_HUMAN	C	1110;1112;679	ENSP00000324549:R1110C;ENSP00000405956:R679C	ENSP00000324549:R1110C	R	+	1	0	CYFIP1	20550897	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.977000	0.70492	2.624000	0.88883	0.561000	0.74099	CGC		0.592	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2	NM_014608		T	22999456	C	T	22999456	3	4	734	1	0	0	0	0	1	0	0	0	4139	768	27	1	3819	1	CYFIP1	15	22999456	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10		22999456	79531936	721	42140											
MAGEL2	54551	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	15	23889371	23889371	+	Silent	SNP	A	A	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:23889371A>T	ENST00000532292.1	-	1	1804	c.1710T>A	c.(1708-1710)ccT>ccA	p.P570P		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	453					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		GCTCAGTGTAAGGGATTCGCC	0.507																																																0													49	50	50					15																	23889371		1914	4128	6042	SO:0001819	synonymous_variant	54551			AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.1710T>A	15.37:g.23889371A>T				Silent	SNP	ENST00000532292.1	37		.	.	.	.	.	.	.	.	.	.	A	6.277	0.419253	0.11870	.	.	ENSG00000254585	ENST00000532292	.	.	.	4.52	-8.18	0.01053	.	.	.	.	.	T	0.28928	0.0718	.	.	.	0.21499	N	0.999664	.	.	.	.	.	.	T	0.34875	-0.9811	4	.	.	.	.	11.1534	0.48473	0.7556:0.1131:0.1313:0.0	.	.	.	.	H	602	.	.	L	-	2	0	MAGEL2	21440464	0.082000	0.21442	0.000000	0.03702	0.825000	0.46686	-0.403000	0.07214	-1.612000	0.01579	-0.414000	0.06135	CTT		0.507	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	NM_019066		T	23889371	A	T	23889371	2	4	734	1	0	0	0	0	0	0	0	1	9191	59	3	5		5	MAGEL2	15	23889371	Silent	SNP	A	TCGA-KN-8428-01A-11D-2310-10	889915	23889371	78642021	722	42141											
HERC2	8924	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	15	28427617	28427617	+	Missense_Mutation	SNP	G	G	A	rs200987196		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:28427617G>A	ENST00000261609.7	-	57	8975	c.8867C>T	c.(8866-8868)aCg>aTg	p.T2956M		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)		GGTTCTTATCGTAGCTGCTGA	0.493													G|||	1	0.000199681	0.0	0.0	5008	,	,		14650	0.0		0.0	False		,,,				2504	0.001															0													70	71	71					15																	28427617		2203	4300	6503	SO:0001583	missense	8924			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.8867C>T	15.37:g.28427617G>A	ENSP00000261609:p.Thr2956Met			Missense_Mutation	SNP	ENST00000261609.7	37	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.123030	0.56613	.	.	ENSG00000128731	ENST00000261609	T	0.39406	1.08	5.16	5.16	0.70880	.	0.055502	0.64402	D	0.000001	T	0.45637	0.1352	N	0.08118	0	0.58432	D	0.999995	D	0.89917	1.0	D	0.69654	0.965	T	0.55995	-0.8052	10	0.48119	T	0.1	.	18.6542	0.91445	0.0:0.0:1.0:0.0	.	2956	O95714	HERC2_HUMAN	M	2956	ENSP00000261609:T2956M	ENSP00000261609:T2956M	T	-	2	0	HERC2	26101212	1.000000	0.71417	0.729000	0.30791	0.363000	0.29612	6.593000	0.74100	2.386000	0.81285	0.650000	0.86243	ACG		0.493	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		A	28427617	G	A	28427617	3	1	734	1	0	0	0	0	1	0	0	0	7060	1145	40	1	5785	1	HERC2	15	28427617	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	4538246	28427617	74103775	723	42142											
HERC2	8924	broad.mit.edu	37	15	28478879	28478879	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:28478879G>A	ENST00000261609.7	-	28	4390	c.4282C>T	c.(4282-4284)Ccc>Tcc	p.P1428S		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.P1428S(1)		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)		TGCTCGGGGGGAAACATGATC	0.458																																																1	Substitution - Missense(1)	large_intestine(1)											53	51	51					15																	28478879		2203	4283	6486	SO:0001583	missense	8924			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.4282C>T	15.37:g.28478879G>A	ENSP00000261609:p.Pro1428Ser			Missense_Mutation	SNP	ENST00000261609.7	37	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	g	9.301	1.053063	0.19907	.	.	ENSG00000128731	ENST00000261609	T	0.37915	1.17	4.24	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.48277	0.1491	L	0.40543	1.245	0.80722	D	1	D	0.63880	0.993	D	0.72982	0.979	T	0.26780	-1.0093	10	0.13470	T	0.59	.	17.2162	0.86945	0.0:0.0:1.0:0.0	.	1428	O95714	HERC2_HUMAN	S	1428	ENSP00000261609:P1428S	ENSP00000261609:P1428S	P	-	1	0	HERC2	26152474	1.000000	0.71417	1.000000	0.80357	0.060000	0.15804	9.260000	0.95568	2.360000	0.80028	0.550000	0.68814	CCC		0.458	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		A	28478879	G	A	28478879	3	1	734	1	0	0	0	0	1	0	0	0	7060	1174	41	2	10486	2	HERC2	15	28478879	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	51262	28478879	74052513	724	42143											
TJP1	7082	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	15	30010880	30010880	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:30010880G>A	ENST00000346128.6	-	21	3940	c.3466C>T	c.(3466-3468)Cgg>Tgg	p.R1156W	TJP1_ENST00000545208.2_Missense_Mutation_p.R1076W|TJP1_ENST00000400011.2_Missense_Mutation_p.R1080W|TJP1_ENST00000356107.6_Missense_Mutation_p.R1156W	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1156					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)		TCTTCGTGCCGCAGGGCGGAT	0.592																																					Melanoma(77;681 1843 6309 6570)											0													88	93	92					15																	30010880		2091	4227	6318	SO:0001583	missense	7082				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.3466C>T	15.37:g.30010880G>A	ENSP00000281537:p.Arg1156Trp		B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	ENST00000346128.6	37	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.328664	0.60743	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T	0.11604	2.82;2.76	6.05	5.13	0.70059	.	0.057456	0.64402	D	0.000001	T	0.31513	0.0799	L	0.61218	1.895	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.72075	0.971;0.976;0.928;0.973	T	0.04427	-1.0952	10	0.87932	D	0	.	16.7023	0.85357	0.0:0.0:0.8694:0.1306	.	1149;1076;1156;1080	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	W	1156;1080;1156;1076;1076	ENSP00000281537:R1156W;ENSP00000382890:R1080W	ENSP00000281537:R1156W	R	-	1	2	TJP1	27798172	1.000000	0.71417	0.074000	0.20217	0.074000	0.17049	5.902000	0.69869	1.538000	0.49270	0.650000	0.86243	CGG		0.592	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257		A	30010880	G	A	30010880	3	1	734	1	0	0	0	0	1	0	0	0	15934	1086	38	1	1812	1	TJP1	15	30010880	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1532001	30010880	72520512	725	42144											
CHRNA7	1139	mdanderson.org	37	15	32460285	32460285	+	Missense_Mutation	SNP	G	G	A	rs573369306		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:32460285G>A	ENST00000306901.3	+	10	1232	c.1135G>A	c.(1135-1137)Gcc>Acc	p.A379T	CHRNA7_ENST00000454250.3_Missense_Mutation_p.A408T|CHRNA7_ENST00000455693.2_Missense_Mutation_p.A198T	NM_000746.5	NP_000737.1	P36544	ACHA7_HUMAN	cholinergic receptor, nicotinic, alpha 7 (neuronal)	379					activation of MAPK activity (GO:0000187)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to ethanol (GO:0048149)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cellular calcium ion homeostasis (GO:0006874)|cognition (GO:0050890)|dopamine biosynthetic process (GO:0042416)|endocytosis (GO:0006897)|generation of ovulation cycle rhythm (GO:0060112)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|memory (GO:0007613)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of tumor necrosis factor production (GO:0032720)|neuronal action potential (GO:0019228)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart rate involved in baroreceptor response to decreased systemic arterial blood pressure (GO:0001988)|regulation of norepinephrine secretion (GO:0014061)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to food (GO:0032094)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|signal transduction (GO:0007165)|sperm motility (GO:0030317)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|T cell activation (GO:0042110)	acetylcholine-gated channel complex (GO:0005892)|apical plasma membrane (GO:0016324)|asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|external side of plasma membrane (GO:0009897)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|acetylcholine-gated cation channel activity (GO:0022848)|beta-amyloid binding (GO:0001540)|chloride channel regulator activity (GO:0017081)|drug binding (GO:0008144)|protein homodimerization activity (GO:0042803)|toxic substance binding (GO:0015643)			endometrium(3)|large_intestine(1)|lung(6)|ovary(2)	12		all_lung(180;6.35e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	GCCGCCGCCCGCCAGCAACGG	0.716																																					Esophageal Squamous(193;529 2900 40232 43193)											0													16	24	21					15																	32460285		2179	4281	6460	SO:0001583	missense	1139			Z23141	CCDS10027.1, CCDS53924.1	15q13.3	2012-02-11	2012-02-07		ENSG00000175344	ENSG00000175344		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1960	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 7 (neuronal)"	118511	"cholinergic receptor, nicotinic, alpha polypeptide 7"			8188270	Standard	NM_001190455		Approved		uc021sic.2	P36544	OTTHUMG00000129285	ENST00000306901.3:c.1135G>A	15.37:g.32460285G>A	ENSP00000303727:p.Ala379Thr		A8K7Q4|B4DFS0|Q15826|Q8IUZ4|Q96RH2|Q99555|Q9BXH0	Missense_Mutation	SNP	ENST00000306901.3	37	CCDS10027.1	.	.	.	.	.	.	.	.	.	.	g	3.425	-0.117298	0.06838	.	.	ENSG00000175344	ENST00000437966;ENST00000454250;ENST00000306901;ENST00000455693	T;T;T	0.19669	2.13;2.13;2.13	3.84	-0.555	0.11807	Neurotransmitter-gated ion-channel transmembrane domain (2);	2.523290	0.01582	N	0.021155	T	0.08179	0.0204	N	0.03000	-0.44	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.20505	-1.0273	10	0.12766	T	0.61	.	3.6481	0.08192	0.494:0.0:0.3237:0.1823	.	408;379	B4DFS0;P36544	.;ACHA7_HUMAN	T	289;408;379;198	ENSP00000407546:A408T;ENSP00000303727:A379T;ENSP00000405989:A198T	ENSP00000303727:A379T	A	+	1	0	CHRNA7	30247577	0.000000	0.05858	0.001000	0.08648	0.477000	0.33069	-0.094000	0.11094	-0.091000	0.12440	0.650000	0.86243	GCC		0.716	CHRNA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251410.2			A	32460285	G	A	32460285	3	1	734	1	0	0	0	0	1	0	0	0	3390	1087	38	1	1173	1	CHRNA7	15	32460285	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	2449405	32460285	70071107	726	42145											
CASC5	57082	broad.mit.edu;mdanderson.org;bcgsc.ca	37	15	40916787	40916787	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:40916787A>G	ENST00000346991.5	+	11	4793	c.4403A>G	c.(4402-4404)cAg>cGg	p.Q1468R	CASC5_ENST00000399668.2_Missense_Mutation_p.Q1442R			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1468					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)		GTTATTCCTCAGCCTCATTTC	0.353																																																0													89	85	86					15																	40916787		1851	4093	5944	SO:0001583	missense	57082			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.4403A>G	15.37:g.40916787A>G	ENSP00000335463:p.Gln1468Arg		Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	ENST00000346991.5	37	CCDS42023.1	.	.	.	.	.	.	.	.	.	.	A	5.267	0.234746	0.09969	.	.	ENSG00000137812	ENST00000346991;ENST00000260369;ENST00000399668	T;T	0.05717	3.4;3.4	4.6	2.17	0.27698	.	0.926357	0.08995	N	0.863806	T	0.11623	0.0283	M	0.61703	1.905	0.09310	N	1	P;P;D	0.54047	0.557;0.557;0.964	B;B;P	0.45829	0.299;0.299;0.494	T	0.26121	-1.0112	10	0.87932	D	0	.	10.278	0.43521	0.6807:0.3193:0.0:0.0	.	1442;1468;1442	Q8NG31-2;Q8NG31;Q8NG31-4	.;CASC5_HUMAN;.	R	1468;1442;1442	ENSP00000335463:Q1468R;ENSP00000382576:Q1442R	ENSP00000260369:Q1442R	Q	+	2	0	CASC5	38704079	0.080000	0.21391	0.512000	0.27736	0.026000	0.11368	1.336000	0.33850	0.324000	0.23333	0.491000	0.48974	CAG		0.353	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508		G	40916787	A	G	40916787	3	3	734	1	0	0	0	0	1	0	0	0	2665	188	7	3	4441	3	CASC5	15	40916787	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	8456502	40916787	61614605	727	42146											
ZFYVE19	84936	hgsc.bcm.edu;mdanderson.org	37	15	41105576	41105576	+	Silent	SNP	C	C	T	rs201883316		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:41105576C>T	ENST00000355341.4	+	8	1572	c.1071C>T	c.(1069-1071)gaC>gaT	p.D357D	ZFYVE19_ENST00000564258.1_Silent_p.D182D|ZFYVE19_ENST00000299173.10_Silent_p.D289D|ZFYVE19_ENST00000336455.5_Silent_p.D347D|ZFYVE19_ENST00000570108.1_Silent_p.D334D	NM_001077268.1	NP_001070736.1	Q96K21	ANCHR_HUMAN	zinc finger, FYVE domain containing 19	357					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)		GTGATGACGACGAGGATGAGG	0.582													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19736	0.0		0.0	False		,,,				2504	0.0															0								C		1,4161		0,1,2080	50	57	54		1071	-6.9	0.6	15		54	0,8418		0,0,4209	no	coding-synonymous	ZFYVE19	NM_001077268.1		0,1,6289	TT,TC,CC		0.0,0.024,0.0079		357/472	41105576	1,12579	2081	4209	6290	SO:0001819	synonymous_variant	84936			AK027746	CCDS42025.1, CCDS58353.1, CCDS58354.1, CCDS58355.1	15q14	2008-05-02				ENSG00000166140		"Zinc fingers, FYVE domain containing"	20758	protein-coding gene	gene with protein product							Standard	NM_001077268		Approved	FLJ14840	uc031qrk.1	Q96K21		ENST00000355341.4:c.1071C>T	15.37:g.41105576C>T			B3KVB2|C9JNF4|H3BUF9|Q86WC2|Q8WU96	Silent	SNP	ENST00000355341.4	37	CCDS42025.1																																																																																				0.582	ZFYVE19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418996.1	NM_032850		T	41105576	C	T	41105576	2	4	734	1	0	0	0	0	0	0	0	1	17670	535	19	1		1	ZFYVE19	15	41105576	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	188789	41105576	61425816	728	42147											
RTF1	23168	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	15	41769459	41769459	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:41769459C>T	ENST00000389629.4	+	13	1669	c.1657C>T	c.(1657-1659)Cgg>Tgg	p.R553W		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	553					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)		GGACCGCCAGCGGACCAAGAA	0.547																																																0													113	123	120					15																	41769459		2203	4300	6503	SO:0001583	missense	23168			D87440	CCDS32200.2	15q14	2004-03-03	2005-07-20	2005-07-20	ENSG00000137815	ENSG00000137815			28996	protein-coding gene	gene with protein product		611633	"KIAA0252"	KIAA0252		15632063	Standard	NM_015138		Approved		uc001zny.3	Q92541	OTTHUMG00000133744	ENST00000389629.4:c.1657C>T	15.37:g.41769459C>T	ENSP00000374280:p.Arg553Trp		Q96BX6	Missense_Mutation	SNP	ENST00000389629.4	37	CCDS32200.2	.	.	.	.	.	.	.	.	.	.	C	21.0	4.078271	0.76528	.	.	ENSG00000137815	ENST00000389629	.	.	.	5.42	3.49	0.39957	.	0.000000	0.85682	D	0.000000	T	0.77280	0.4107	M	0.76727	2.345	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.80074	-0.1534	9	0.72032	D	0.01	-4.1498	14.5409	0.67995	0.2674:0.7326:0.0:0.0	.	553	Q92541	RTF1_HUMAN	W	553	.	ENSP00000374280:R553W	R	+	1	2	RTF1	39556751	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.470000	0.60175	0.808000	0.34231	-0.311000	0.09066	CGG		0.547	RTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258111.1	NM_015138		T	41769459	C	T	41769459	3	4	734	1	0	0	0	0	1	0	0	0	13727	759	27	1	1707	1	RTF1	15	41769459	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	663883	41769459	60761933	729	42148											
RPAP1	26015	broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	41814441	41814441	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:41814441G>A	ENST00000304330.4	-	20	2866	c.2750C>T	c.(2749-2751)gCc>gTc	p.A917V	RPAP1_ENST00000561603.1_Missense_Mutation_p.A917V	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	917	Leu-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		AGCCAATATGGCAGCCAGCTG	0.562																																																0													18	23	21					15																	41814441		2201	4297	6498	SO:0001583	missense	26015			BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.2750C>T	15.37:g.41814441G>A	ENSP00000306123:p.Ala917Val		Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Missense_Mutation	SNP	ENST00000304330.4	37	CCDS10079.1	.	.	.	.	.	.	.	.	.	.	G	4.735	0.136744	0.09032	.	.	ENSG00000103932	ENST00000304330	T	0.11821	2.74	5.0	0.893	0.19236	.	0.969729	0.08589	N	0.923357	T	0.10252	0.0251	N	0.25647	0.755	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.35549	-0.9784	10	0.46703	T	0.11	-9.0683	8.2846	0.31922	0.4263:0.0:0.5737:0.0	.	917	Q9BWH6	RPAP1_HUMAN	V	917	ENSP00000306123:A917V	ENSP00000306123:A917V	A	-	2	0	RPAP1	39601733	0.017000	0.18338	0.002000	0.10522	0.564000	0.35744	1.305000	0.33493	0.009000	0.14813	-0.391000	0.06502	GCC		0.562	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252694.2	NM_015540		A	41814441	G	A	41814441	3	1	734	1	0	0	0	0	1	0	0	0	13547	1203	42	2	1455	2	RPAP1	15	41814441	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	44982	41814441	60716951	730	42149											
PLA2G4B	100137049	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	15	42131115	42131115	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:42131115G>T	ENST00000452633.1	+	2	356	c.4G>T	c.(4-6)Gct>Tct	p.A2S	JMJD7-PLA2G4B_ENST00000342159.4_Intron|PLA2G4B_ENST00000542534.2_Intron|PLA2G4B_ENST00000458483.1_Missense_Mutation_p.A2S|JMJD7-PLA2G4B_ENST00000382448.4_Intron|JMJD7-PLA2G4B_ENST00000476036.1_Intron			P0C869	PA24B_HUMAN	phospholipase A2, group IVB (cytosolic)	2	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|arachidonic acid metabolic process (GO:0019369)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|parturition (GO:0007567)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|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)						all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		CAGTCTCATGGCTGTGGTAAG	0.562																																																0													44	40	41					15																	42131115		1567	3581	5148	SO:0001583	missense	100137049			AF065215	CCDS45241.1	15q11.2-q21.3	2010-08-17			ENSG00000243708	ENSG00000243708	3.1.1.4		9036	protein-coding gene	gene with protein product		606088				9705332	Standard	NM_001114633		Approved	cPLA2-beta, HsT16992		P0C869	OTTHUMG00000156809	ENST00000452633.1:c.4G>T	15.37:g.42131115G>T	ENSP00000396045:p.Ala2Ser		B4DRT9|O95712|Q19KD5|Q19KD6|Q59GF9|Q8TB10|Q9UKV7	Missense_Mutation	SNP	ENST00000452633.1	37	CCDS45241.1	.	.	.	.	.	.	.	.	.	.	.	15.82	2.945454	0.53079	.	.	ENSG00000168970;ENSG00000243708	ENST00000458483;ENST00000452633	T;T	0.01313	5.02;5.02	5.15	5.15	0.70609	.	.	.	.	.	T	0.01189	0.0039	.	.	.	0.22666	N	0.998871	P	0.46987	0.888	B	0.42163	0.378	T	0.52102	-0.8620	8	0.06757	T	0.87	-0.7799	14.5006	0.67719	0.0:0.0:1.0:0.0	.	2	P0C869	PA24B_HUMAN	S	2	ENSP00000416610:A2S;ENSP00000396045:A2S	ENSP00000416610:A2S	A	+	1	0	JMJD7-PLA2G4B;PLA2G4B	39918407	1.000000	0.71417	1.000000	0.80357	0.689000	0.40095	4.743000	0.62110	2.567000	0.86603	0.655000	0.94253	GCT		0.562	PLA2G4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345969.1	NM_001114633		T	42131115	G	T	42131115	3	4	734	1	0	0	0	0	1	0	0	0	12004	1203	42	4	6	4	PLA2G4B	15	42131115	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	316674	42131115	60400277	731	42150											
EHD4	30844	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	15	42193092	42193092	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:42193092C>T	ENST00000220325.4	-	6	1460	c.1377G>A	c.(1375-1377)tcG>tcA	p.S459S	RP11-23P13.6_ENST00000564432.2_RNA	NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	459	EH. {ECO:0000255|PROSITE- ProRule:PRU00077}.				cellular response to growth factor stimulus (GO:0071363)|endocytic recycling (GO:0032456)|pinocytosis (GO:0006907)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein homooligomerization (GO:0051260)|regulation of endocytosis (GO:0030100)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		CATTGATGGGCGACAGAGTGT	0.602																																																0													86	72	77					15																	42193092		2203	4299	6502	SO:0001819	synonymous_variant	30844			AF181265	CCDS10081.1	15q11.1	2013-01-10			ENSG00000103966	ENSG00000103966		"EF-hand domain containing"	3245	protein-coding gene	gene with protein product		605892		PAST4		10673336, 11533061	Standard	NM_139265		Approved		uc001zot.3	Q9H223	OTTHUMG00000130370	ENST00000220325.4:c.1377G>A	15.37:g.42193092C>T			Q9HAR1|Q9NZN2	Silent	SNP	ENST00000220325.4	37	CCDS10081.1																																																																																				0.602	EHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252737.2	NM_139265		T	42193092	C	T	42193092	2	4	734	1	0	0	0	0	0	0	0	1	4982	755	27	1		1	EHD4	15	42193092	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	61977	42193092	60338300	732	42151											
TMEM87A	25963	broad.mit.edu	37	15	42564314	42564314	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:42564314delT	ENST00000389834.4	-	2	416	c.152delA	c.(151-153)aatfs	p.N51fs	TMEM87A_ENST00000448392.1_Intron|TMEM87A_ENST00000307216.6_Frame_Shift_Del_p.N51fs|GANC_ENST00000318010.8_5'Flank|GANC_ENST00000440615.2_5'Flank|TMEM87A_ENST00000568432.1_5'UTR|GANC_ENST00000566442.1_5'Flank	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A	51						integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		ACTAAAATAATTTTTCCCCTG	0.294																																																0													36	37	37					15																	42564314		2202	4296	6498	SO:0001589	frameshift_variant	25963			AF132733	CCDS32205.1, CCDS45243.1, CCDS66742.1	15q15.1	2005-10-30				ENSG00000103978			24522	protein-coding gene	gene with protein product						12477932	Standard	XM_005254287		Approved	DKFZP564G2022	uc021sjr.1	Q8NBN3		ENST00000389834.4:c.152delA	15.37:g.42564314delT	ENSP00000374484:p.Asn51fs		Q6NT77|Q8NCA4|Q9BS46|Q9P103|Q9Y3Y7	Frame_Shift_Del	DEL	ENST00000389834.4	37	CCDS32205.1																																																																																				0.294	TMEM87A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420482.2	NM_015497		-	42564314	T	-	42564314	7	5	734	1	0	1	0	1	0	0	0	0	16215	1493	52	0	1637	0	TMEM87A	15	42564314	Frame_Shift_Del	DEL	T	TCGA-KN-8428-01A-11D-2310-10	371222	42564314	59967078	733	42152											
GANC	2595	broad.mit.edu;mdanderson.org	37	15	42619597	42619597	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:42619597T>C	ENST00000318010.8	+	13	1697	c.1457T>C	c.(1456-1458)gTc>gCc	p.V486A		NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	486					carbohydrate metabolic process (GO:0005975)		alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)	Miglitol(DB00491)	AATCCCAAGGTCAGAGAGTGG	0.423																																																0													291	254	267					15																	42619597		2203	4299	6502	SO:0001583	missense	2595			AF545045	CCDS10084.1	15q15.2	2012-10-02			ENSG00000214013	ENSG00000214013	3.2.1.20		4139	protein-coding gene	gene with protein product		104180				6995030, 12370436	Standard	NM_198141		Approved		uc001zpi.3	Q8TET4	OTTHUMG00000130487	ENST00000318010.8:c.1457T>C	15.37:g.42619597T>C	ENSP00000326227:p.Val486Ala		Q52LQ4|Q8IWZ0|Q8IZM4|Q8IZM5	Missense_Mutation	SNP	ENST00000318010.8	37	CCDS10084.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.281005	0.80692	.	.	ENSG00000214013	ENST00000318010	D	0.95035	-3.59	5.32	5.32	0.75619	Glycoside hydrolase, superfamily (1);	0.121554	0.56097	D	0.000027	D	0.90477	0.7017	N	0.17248	0.465	0.52099	D	0.999945	P	0.36616	0.561	B	0.42882	0.401	D	0.89515	0.3774	10	0.31617	T	0.26	-16.5794	13.884	0.63698	0.0:0.0:0.0:1.0	.	486	Q8TET4	GANC_HUMAN	A	486	ENSP00000326227:V486A	ENSP00000326227:V486A	V	+	2	0	GANC	40406889	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.305000	0.59110	2.013000	0.59113	0.528000	0.53228	GTC		0.423	GANC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252887.2	NM_198141		C	42619597	T	C	42619597	3	2	734	1	0	0	0	0	1	0	0	0	6236	1667	58	3	1507	3	GANC	15	42619597	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	55283	42619597	59911795	734	42153											
TGM7	116179	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	15	43585733	43585733	+	Missense_Mutation	SNP	C	C	T	rs150218635	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:43585733C>T	ENST00000452443.2	-	2	111	c.107G>A	c.(106-108)cGc>cAc	p.R36H		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	36					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)	CTGGCCGCGGCGCACAGTGAG	0.617																																																0									HIS/ARG	5,4397	9.9+/-24.2	0,5,2196	84	86	85		107	5.1	1	15	dbSNP_134	85	0,8596		0,0,4298	no	missense	TGM7	NM_052955.2	29	0,5,6494	TT,TC,CC		0.0,0.1136,0.0385	probably-damaging	36/711	43585733	5,12993	2201	4298	6499	SO:0001583	missense	116179			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.107G>A	15.37:g.43585733C>T	ENSP00000389466:p.Arg36His			Missense_Mutation	SNP	ENST00000452443.2	37	CCDS32213.1	.	.	.	.	.	.	.	.	.	.	c	21.9	4.211069	0.79240	0.001136	0.0	ENSG00000159495	ENST00000452443	D	0.98947	-5.26	5.07	5.07	0.68467	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.99275	0.9747	M	0.92833	3.35	0.38616	D	0.951023	D	0.89917	1.0	D	0.91635	0.999	D	0.99858	1.1079	10	0.87932	D	0	-20.0004	14.3332	0.66572	0.0:1.0:0.0:0.0	.	36	Q96PF1	TGM7_HUMAN	H	36	ENSP00000389466:R36H	ENSP00000389466:R36H	R	-	2	0	TGM7	41373025	1.000000	0.71417	0.967000	0.41034	0.064000	0.16182	5.029000	0.64121	2.534000	0.85438	0.454000	0.30748	CGC		0.617	TGM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432489.1	NM_052955		T	43585733	C	T	43585733	3	4	734	1	0	0	0	0	1	0	0	0	15840	768	27	1	2073	1	TGM7	15	43585733	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	966136	43585733	58945659	735	42154											
TP53BP1	7158	broad.mit.edu	37	15	43773188	43773188	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:43773188G>A	ENST00000263801.3	-	5	641	c.389C>T	c.(388-390)gCt>gTt	p.A130V	TP53BP1_ENST00000382039.3_Missense_Mutation_p.A135V|TP53BP1_ENST00000450115.2_Missense_Mutation_p.A135V|TP53BP1_ENST00000382044.4_Missense_Mutation_p.A135V	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	130					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)		ttcctccACAGCAGGAGCAGA	0.453								Other conserved DNA damage response genes																																								0													229	175	193					15																	43773188		2201	4298	6499	SO:0001583	missense	7158			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"tumor protein p53-binding protein, 1"			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.389C>T	15.37:g.43773188G>A	ENSP00000263801:p.Ala130Val		F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	ENST00000263801.3	37	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	G	9.638	1.138150	0.21123	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115;ENST00000413546	T;T;T;T;T	0.09911	3.75;3.75;3.75;3.75;2.93	4.61	3.68	0.42216	.	1.743780	0.02818	N	0.125177	T	0.09555	0.0235	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.001;0.001	T	0.31024	-0.9958	10	0.24483	T	0.36	2.085	8.1265	0.31001	0.1171:0.0:0.8829:0.0	.	135;130;135;135	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	V	130;135;135;135;135	ENSP00000263801:A130V;ENSP00000371475:A135V;ENSP00000371470:A135V;ENSP00000393497:A135V;ENSP00000388028:A135V	ENSP00000263801:A130V	A	-	2	0	TP53BP1	41560480	0.025000	0.19082	0.020000	0.16555	0.831000	0.47069	1.588000	0.36633	1.054000	0.40438	0.467000	0.42956	GCT		0.453	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			A	43773188	G	A	43773188	3	1	734	1	0	0	0	0	1	0	0	0	16388	971	34	2	5625	2	TP53BP1	15	43773188	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	187455	43773188	58758204	736	42155											
MAP1A	4130	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	15	43821457	43821457	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:43821457C>T	ENST00000300231.5	+	4	8236	c.7786C>T	c.(7786-7788)Cgg>Tgg	p.R2596W	MAP1A_ENST00000382031.1_Missense_Mutation_p.R2834W|MAP1A_ENST00000399453.1_Missense_Mutation_p.R2596W			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2596					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)	AGAGAGGCTACGGGAGAAGGA	0.662																																																0													36	43	41					15																	43821457		1912	4110	6022	SO:0001583	missense	4130			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.7786C>T	15.37:g.43821457C>T	ENSP00000300231:p.Arg2596Trp		O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.132937	0.37630	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01505	4.82;4.82;4.82	4.95	4.95	0.65309	.	.	.	.	.	T	0.04452	0.0122	N	0.22421	0.69	0.37754	D	0.92608	D	0.89917	1.0	D	0.67548	0.952	T	0.52660	-0.8546	9	0.87932	D	0	-12.1772	12.2202	0.54429	0.0:0.9111:0.0:0.0889	.	2596	P78559	MAP1A_HUMAN	W	2834;2596;2596	ENSP00000371462:R2834W;ENSP00000382380:R2596W;ENSP00000300231:R2596W	ENSP00000300231:R2596W	R	+	1	2	MAP1A	41608749	0.182000	0.23173	1.000000	0.80357	0.988000	0.76386	1.218000	0.32467	2.557000	0.86248	0.462000	0.41574	CGG		0.662	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		T	43821457	C	T	43821457	3	4	734	1	0	0	0	0	1	0	0	0	9229	527	19	1	7788	1	MAP1A	15	43821457	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	48269	43821457	58709935	737	42156											
DUOX2	50506	broad.mit.edu;mdanderson.org;bcgsc.ca	37	15	45396231	45396231	+	Missense_Mutation	SNP	G	G	A	rs201955961		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:45396231G>A	ENST00000603300.1	-	20	2783	c.2581C>T	c.(2581-2583)Cgt>Tgt	p.R861C	DUOX2_ENST00000389039.6_Missense_Mutation_p.R861C	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	861	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				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)		AACATTAGACGGGACTTATCC	0.507																																																0								G	CYS/ARG	0,4396		0,0,2198	120	108	112		2581	5.2	1	15		112	2,8594	2.2+/-6.3	0,2,4296	no	missense	DUOX2	NM_014080.4	180	0,2,6494	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	861/1549	45396231	2,12990	2198	4298	6496	SO:0001583	missense	50506			AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"EF-hand domain containing"	13273	protein-coding gene	gene with protein product	"dual oxidase-like domains 2", "nicotinamide adenine dinucleotide phosphate oxidase", "flavoprotein NADPH oxidase", "NADPH thyroid oxidase 2", "NADH/NADPH thyroid oxidase p138-tox", "NADPH oxidase/peroxidase DUOX2"	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.2581C>T	15.37:g.45396231G>A	ENSP00000475084:p.Arg861Cys		A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	ENST00000603300.1	37	CCDS10117.1	.	.	.	.	.	.	.	.	.	.	G	19.83	3.900727	0.72754	0.0	2.33E-4	ENSG00000140279	ENST00000389039	.	.	.	5.23	5.23	0.72850	EF-hand-like domain (1);	0.399295	0.26955	N	0.021659	T	0.82001	0.4942	H	0.94964	3.605	0.44611	D	0.997587	D;D	0.89917	1.0;1.0	D;D	0.67725	0.953;0.953	D	0.85455	0.1163	9	0.87932	D	0	-10.1059	9.4386	0.38655	0.0:0.1432:0.6886:0.1681	.	861;423	Q9NRD8;Q59GU9	DUOX2_HUMAN;.	C	861	.	ENSP00000373691:R861C	R	-	1	0	DUOX2	43183523	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	3.975000	0.56859	2.579000	0.87056	0.563000	0.77884	CGT		0.507	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080		A	45396231	G	A	45396231	3	1	734	1	0	0	0	0	1	0	0	0	4803	1116	39	1	2125	1	DUOX2	15	45396231	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1574774	45396231	57135161	738	42157											
FBN1	2200	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	15	48703307	48703307	+	Silent	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:48703307A>G	ENST00000316623.5	-	66	8951	c.8496T>C	c.(8494-8496)agT>agC	p.S2832S	FBN1_ENST00000561429.1_5'Flank	NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2832					extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GTGGAGTACTACTGATTTGTA	0.373																																																0													123	125	124					15																	48703307		2198	4296	6494	SO:0001819	synonymous_variant	2200			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"Marfan syndrome"	134797	"fibrillin 1 (Marfan syndrome)"	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.8496T>C	15.37:g.48703307A>G			B2RUU0|D2JYH6|Q15972|Q75N87	Silent	SNP	ENST00000316623.5	37	CCDS32232.1																																																																																				0.373	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			G	48703307	A	G	48703307	2	3	734	1	0	0	0	0	0	0	0	1	5704	388	14	3		3	FBN1	15	48703307	Silent	SNP	A	TCGA-KN-8428-01A-11D-2310-10	3307076	48703307	53828085	739	42158											
FBN1	2200	broad.mit.edu;ucsc.edu;mdanderson.org	37	15	48755319	48755319	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:48755319C>T	ENST00000316623.5	-	42	5639	c.5184G>A	c.(5182-5184)gcG>gcA	p.A1728A		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1728	TB 7.		A -> T (in GPHYSD2 and ACMICD). {ECO:0000269|PubMed:21683322}.|A -> V (in GPHYSD2). {ECO:0000269|PubMed:21683322}.		extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GCTTGTTCCACGCCCGGCCAA	0.423																																																0													119	120	120					15																	48755319		2198	4296	6494	SO:0001819	synonymous_variant	2200			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"Marfan syndrome"	134797	"fibrillin 1 (Marfan syndrome)"	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.5184G>A	15.37:g.48755319C>T			B2RUU0|D2JYH6|Q15972|Q75N87	Silent	SNP	ENST00000316623.5	37	CCDS32232.1																																																																																				0.423	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			T	48755319	C	T	48755319	2	4	734	1	0	0	0	0	0	0	0	1	5704	523	19	1		1	FBN1	15	48755319	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	52012	48755319	53776073	740	42159											
CEP152	22995	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	15	49030737	49030737	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:49030737G>A	ENST00000380950.2	-	27	5029	c.4842C>T	c.(4840-4842)tcC>tcT	p.S1614S	CEP152_ENST00000399334.3_Silent_p.S1558S	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1614					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)		AAAGATAACCGGATGGTGAAA	0.378																																																0													100	99	99					15																	49030737		1904	4130	6034	SO:0001819	synonymous_variant	22995			AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"asterless"	613529	"microcephaly, primary autosomal recessive 4"	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.4842C>T	15.37:g.49030737G>A			E7ER66|Q17RV1|Q6NTA0	Silent	SNP	ENST00000380950.2	37	CCDS58361.1																																																																																				0.378	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		A	49030737	G	A	49030737	2	1	734	1	0	0	0	0	0	0	0	1	3250	1103	39	1		1	CEP152	15	49030737	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	275418	49030737	53500655	741	42160											
SECISBP2L	9728	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	15	49304966	49304966	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:49304966G>T	ENST00000559471.1	-	12	1873	c.1610C>A	c.(1609-1611)cCt>cAt	p.P537H	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.P492H	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	537							poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						TTTGGTTAAAGGTTTTCTATT	0.353																																																0													102	109	107					15																	49304966		2197	4295	6492	SO:0001583	missense	9728			BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.1610C>A	15.37:g.49304966G>T	ENSP00000453854:p.Pro537His		Q8N767	Missense_Mutation	SNP	ENST00000559471.1	37	CCDS53942.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.201942	0.58234	.	.	ENSG00000138593	ENST00000261847;ENST00000380927	T	0.72725	-0.68	5.76	5.76	0.90799	.	0.411718	0.29853	N	0.011027	T	0.53610	0.1807	N	0.08118	0	0.28199	N	0.927438	B;P	0.41569	0.412;0.755	B;B	0.41036	0.125;0.346	T	0.57207	-0.7851	10	0.52906	T	0.07	.	13.2058	0.59795	0.0726:0.0:0.9274:0.0	.	537;492	Q93073;Q93073-2	SBP2L_HUMAN;.	H	492;537	ENSP00000261847:P492H	ENSP00000261847:P492H	P	-	2	0	SECISBP2L	47092258	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	6.336000	0.72954	2.727000	0.93392	0.650000	0.86243	CCT		0.353	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1	NM_014701		T	49304966	G	T	49304966	3	4	734	1	0	0	0	0	1	0	0	0	14013	1000	35	4	1723	4	SECISBP2L	15	49304966	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	274229	49304966	53226426	742	42161											
HERC1	8925	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	15	63966709	63966709	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:63966709G>A	ENST00000443617.2	-	38	7765	c.7678C>T	c.(7678-7680)Cga>Tga	p.R2560*	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	2560					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						AGGGCTGCTCGCATCTCCACG	0.493																																																0													74	72	73					15																	63966709		2050	4221	6271	SO:0001587	stop_gained	8925			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.7678C>T	15.37:g.63966709G>A	ENSP00000390158:p.Arg2560*		Q8IW65	Nonsense_Mutation	SNP	ENST00000443617.2	37	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	G	48	14.509192	0.99798	.	.	ENSG00000103657	ENST00000443617	.	.	.	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.9748	0.71264	0.0:0.0:0.8574:0.1426	.	.	.	.	X	2560	.	ENSP00000390158:R2560X	R	-	1	2	HERC1	61753762	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.095000	0.57728	2.775000	0.95449	0.650000	0.86243	CGA		0.493	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		A	63966709	G	A	63966709	4	1	734	1	0	0	0	0	0	1	0	0	7059	1095	38	1	7071	1	HERC1	15	63966709	Nonsense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	14661743	63966709	38564683	743	42162											
PLEKHO2	80301	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	15	65157910	65157910	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:65157910C>T	ENST00000323544.4	+	6	1424	c.1296C>T	c.(1294-1296)ggC>ggT	p.G432G	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	432										NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						AGGTGCTGGGCAGTGAGCCGG	0.612																																																0													46	49	48					15																	65157910		2202	4299	6501	SO:0001819	synonymous_variant	80301			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.1296C>T	15.37:g.65157910C>T			Q7L4H4|Q8WYS8	Silent	SNP	ENST00000323544.4	37	CCDS10196.1																																																																																				0.612	PLEKHO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256659.1	NM_025201		T	65157910	C	T	65157910	2	4	734	1	0	0	0	0	0	0	0	1	12087	697	25	2		2	PLEKHO2	15	65157910	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1191201	65157910	37373482	744	42163											
MEGF11	84465	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	15	66214758	66214758	+	Silent	SNP	G	G	A	rs146260891	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:66214758G>A	ENST00000409699.2	-	15	2047	c.1875C>T	c.(1873-1875)tgC>tgT	p.C625C	MEGF11_ENST00000288745.3_Silent_p.C550C|MEGF11_ENST00000395614.1_5'UTR|MEGF11_ENST00000422354.1_Silent_p.C625C|MEGF11_ENST00000360698.4_Silent_p.C625C|MEGF11_ENST00000395625.2_Silent_p.C550C			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	625					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						TGCTGTGCACGCAGAGGGGGC	0.637													G|||	2	0.000399361	0.0015	0.0	5008	,	,		17955	0.0		0.0	False		,,,				2504	0.0															0								G		2,4396		0,2,2197	24	22	22		1875	-1.3	1	15	dbSNP_134	22	0,8580		0,0,4290	no	coding-synonymous	MEGF11	NM_032445.2		0,2,6487	AA,AG,GG		0.0,0.0455,0.0154		625/1045	66214758	2,12976	2199	4290	6489	SO:0001819	synonymous_variant	84465			AB058677	CCDS10213.2	15q22.31	2006-03-31			ENSG00000157890	ENSG00000157890			29635	protein-coding gene	gene with protein product		612454				11347906	Standard	NM_032445		Approved	KIAA1781, DKFZp434L121	uc002apm.2	A6BM72	OTTHUMG00000133175	ENST00000409699.2:c.1875C>T	15.37:g.66214758G>A			Q17R86|Q6UXS5|Q8ND91|Q96KG6	Silent	SNP	ENST00000409699.2	37	CCDS10213.2																																																																																				0.637	MEGF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329307.2	NM_032445		A	66214758	G	A	66214758	2	1	734	1	0	0	0	0	0	0	0	1	9463	1079	38	1		1	MEGF11	15	66214758	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1056848	66214758	36316634	745	42164											
SMAD3	4088	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	15	67358664	67358664	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:67358664C>T	ENST00000327367.4	+	1	482	c.172C>T	c.(172-174)Cag>Tag	p.Q58*		NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	58	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell-cell junction organization (GO:0045216)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|embryonic pattern specification (GO:0009880)|endoderm development (GO:0007492)|evasion or tolerance of host defenses by virus (GO:0019049)|extrinsic apoptotic signaling pathway (GO:0097191)|gene expression (GO:0010467)|heart looping (GO:0001947)|immune response (GO:0006955)|immune system development (GO:0002520)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|lens fiber cell differentiation (GO:0070306)|liver development (GO:0001889)|mesoderm formation (GO:0001707)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)|nodal signaling pathway (GO:0038092)|osteoblast development (GO:0002076)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta3 production (GO:0032916)|primary miRNA processing (GO:0031053)|protein stabilization (GO:0050821)|regulation of binding (GO:0051098)|regulation of epithelial cell proliferation (GO:0050678)|regulation of immune response (GO:0050776)|regulation of striated muscle tissue development (GO:0016202)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|somitogenesis (GO:0001756)|T cell activation (GO:0042110)|thyroid gland development (GO:0030878)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transdifferentiation (GO:0060290)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transport (GO:0006810)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|bHLH transcription factor binding (GO:0043425)|chromatin DNA binding (GO:0031490)|co-SMAD binding (GO:0070410)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		CATCACCACGCAGAACGTCAA	0.677																																																0													98	91	93					15																	67358664		2199	4299	6498	SO:0001587	stop_gained	4088			BC050743	CCDS10222.1, CCDS45288.1, CCDS53950.1, CCDS53951.1	15q21-q22	2006-11-06	2006-11-06	2004-05-26	ENSG00000166949	ENSG00000166949		"SMADs"	6769	protein-coding gene	gene with protein product		603109	"MAD, mothers against decapentaplegic homolog 3 (Drosophila)", "SMAD, mothers against DPP homolog 3 (Drosophila)"	MADH3		8774881, 8673135	Standard	NM_001145102		Approved	JV15-2, HsT17436	uc002aqj.3	P84022	OTTHUMG00000133230	ENST00000327367.4:c.172C>T	15.37:g.67358664C>T	ENSP00000332973:p.Gln58*		A8K4B6|B7Z4Z5|B7Z6M9|B7Z9Q2|F5H383|O09064|O09144|O14510|O35273|Q92940|Q93002|Q9GKR4	Nonsense_Mutation	SNP	ENST00000327367.4	37	CCDS10222.1	.	.	.	.	.	.	.	.	.	.	C	40	8.222234	0.98712	.	.	ENSG00000166949	ENST00000327367;ENST00000535241	.	.	.	4.21	4.21	0.49690	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	16.0748	0.80962	0.0:1.0:0.0:0.0	.	.	.	.	X	58	.	ENSP00000332973:Q58X	Q	+	1	0	SMAD3	65145718	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.334000	0.79224	2.315000	0.78130	0.561000	0.74099	CAG		0.677	SMAD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256967.2	NM_005902		T	67358664	C	T	67358664	4	4	734	1	0	0	0	0	0	1	0	0	14765	711	25	2	174	2	SMAD3	15	67358664	Nonsense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1143906	67358664	35172728	746	42165											
GLCE	26035	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	15	69548276	69548276	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:69548276G>T	ENST00000261858.2	+	3	359	c.131G>T	c.(130-132)aGt>aTt	p.S44I	GLCE_ENST00000559420.2_5'UTR	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN	glucuronic acid epimerase	44					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	heparosan-N-sulfate-glucuronate 5-epimerase activity (GO:0047464)|racemase and epimerase activity, acting on carbohydrates and derivatives (GO:0016857)|UDP-glucuronate 5'-epimerase activity (GO:0050379)			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						CGGCGTTCGAGTAGTGGCTTC	0.438																																																0													101	97	98					15																	69548276		2200	4298	6498	SO:0001583	missense	26035			AB020643	CCDS32277.1	15q23	2007-01-30	2007-01-30			ENSG00000138604	5.1.3.12		17855	protein-coding gene	gene with protein product	"heparan sulfate epimerase"	612134	"D-glucuronyl C5-epimerase", "UDP-glucuronic acid epimerase"			15853773	Standard	NM_015554		Approved	KIAA0836, HSEPI	uc002ary.1	O94923		ENST00000261858.2:c.131G>T	15.37:g.69548276G>T	ENSP00000261858:p.Ser44Ile		Q6GUQ2	Missense_Mutation	SNP	ENST00000261858.2	37	CCDS32277.1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.841090	0.32513	.	.	ENSG00000138604	ENST00000261858	T	0.32515	1.45	5.3	3.39	0.38822	.	0.732889	0.14624	N	0.308237	T	0.16557	0.0398	N	0.08118	0	0.30766	N	0.743522	B	0.12013	0.005	B	0.09377	0.004	T	0.09465	-1.0673	10	0.39692	T	0.17	-12.9551	11.3542	0.49607	0.1588:0.0:0.8412:0.0	.	44	O94923	GLCE_HUMAN	I	44	ENSP00000261858:S44I	ENSP00000261858:S44I	S	+	2	0	GLCE	67335330	0.027000	0.19231	1.000000	0.80357	0.886000	0.51366	0.851000	0.27751	1.361000	0.45981	0.655000	0.94253	AGT		0.438	GLCE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015554		T	69548276	G	T	69548276	3	4	734	1	0	0	0	0	1	0	0	0	6434	1029	36	4	133	4	GLCE	15	69548276	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	2189612	69548276	32983116	747	42166											
MYO9A	4649	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	15	72292238	72292238	+	Missense_Mutation	SNP	G	G	A	rs148826761		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:72292238G>A	ENST00000356056.5	-	9	1896	c.1424C>T	c.(1423-1425)aCg>aTg	p.T475M	MYO9A_ENST00000444904.1_Missense_Mutation_p.T456M|MYO9A_ENST00000424560.1_Missense_Mutation_p.T475M|MYO9A_ENST00000564571.1_Missense_Mutation_p.T475M|MYO9A_ENST00000563542.1_5'UTR|RP11-390D11.1_ENST00000568391.1_RNA|MYO9A_ENST00000566885.1_Missense_Mutation_p.T70M	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	475	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						CACTGTCACCGTCTTCCTTGT	0.328																																																0								G	MET/THR	0,4398		0,0,2199	166	151	156		1424	5.7	1	15	dbSNP_134	156	1,8593	1.2+/-3.3	0,1,4296	no	missense	MYO9A	NM_006901.2	81	0,1,6495	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	475/2549	72292238	1,12991	2199	4297	6496	SO:0001583	missense	4649			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.1424C>T	15.37:g.72292238G>A	ENSP00000348349:p.Thr475Met		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.993643	0.93167	0.0	1.16E-4	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864;ENST00000446448	D;D;D	0.86627	-2.15;-2.15;-2.15	5.73	5.73	0.89815	Myosin head, motor domain (2);	.	.	.	.	D	0.88614	0.6484	N	0.17594	0.5	0.80722	D	1	D;P;D;D	0.89917	1.0;0.884;0.988;0.974	D;B;P;P	0.85130	0.997;0.422;0.576;0.871	D	0.87321	0.2318	9	0.30078	T	0.28	.	19.4942	0.95065	0.0:0.0:1.0:0.0	.	456;475;456;475	B2RTY4-2;B2RTY4-3;B7WP69;B2RTY4	.;.;.;MYO9A_HUMAN	M	475;475;456;456;475	ENSP00000348349:T475M;ENSP00000399162:T475M;ENSP00000398250:T456M	ENSP00000261864:T456M	T	-	2	0	MYO9A	70079292	1.000000	0.71417	0.987000	0.45799	0.989000	0.77384	9.145000	0.94634	2.706000	0.92434	0.557000	0.71058	ACG		0.328	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		A	72292238	G	A	72292238	3	1	734	1	0	0	0	0	1	0	0	0	10086	1145	40	1	6358	1	MYO9A	15	72292238	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	2743962	72292238	30239154	748	42167											
HCN4	10021	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	15	73615982	73615982	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:73615982C>T	ENST00000261917.3	-	8	3445	c.2452G>A	c.(2452-2454)Ggt>Agt	p.G818S		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	818					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)		TGCCCGGCACCGAGGTTGCCC	0.697																																																0													26	30	29					15																	73615982		2194	4295	6489	SO:0001583	missense	10021			AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.2452G>A	15.37:g.73615982C>T	ENSP00000261917:p.Gly818Ser		Q9UMQ7	Missense_Mutation	SNP	ENST00000261917.3	37	CCDS10248.1	.	.	.	.	.	.	.	.	.	.	C	8.628	0.892994	0.17613	.	.	ENSG00000138622	ENST00000261917	T	0.78003	-1.14	3.59	3.59	0.41128	.	.	.	.	.	T	0.69780	0.3149	L	0.47716	1.5	0.09310	N	1	D	0.67145	0.996	P	0.45343	0.477	T	0.59268	-0.7486	9	0.08599	T	0.76	.	10.7797	0.46371	0.1896:0.8104:0.0:0.0	.	818	Q9Y3Q4	HCN4_HUMAN	S	818	ENSP00000261917:G818S	ENSP00000261917:G818S	G	-	1	0	HCN4	71403035	0.254000	0.23992	0.173000	0.22940	0.177000	0.22998	1.910000	0.39927	1.828000	0.53243	0.462000	0.41574	GGT		0.697	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	NM_005477		T	73615982	C	T	73615982	3	4	734	1	0	0	0	0	1	0	0	0	7001	652	23	1	1163	1	HCN4	15	73615982	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1323744	73615982	28915410	749	42168											
PML	5371	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	15	74315583	74315583	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:74315583C>T	ENST00000268058.3	+	3	1113	c.1017C>T	c.(1015-1017)taC>taT	p.Y339Y	PML_ENST00000395135.3_Silent_p.Y339Y|PML_ENST00000268059.6_Silent_p.Y339Y|PML_ENST00000569161.1_3'UTR|PML_ENST00000565898.1_Silent_p.Y339Y|PML_ENST00000436891.3_Silent_p.Y339Y|PML_ENST00000567543.1_Silent_p.Y339Y|PML_ENST00000569965.1_Silent_p.Y339Y|PML_ENST00000395132.2_Silent_p.Y339Y|PML_ENST00000354026.6_Silent_p.Y339Y|PML_ENST00000563500.1_Silent_p.Y339Y|PML_ENST00000359928.4_Silent_p.Y339Y|PML_ENST00000564428.1_Silent_p.Y339Y|PML_ENST00000569477.1_Silent_p.Y339Y|PML_ENST00000435786.2_Silent_p.Y339Y	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia	339					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						TGAAGTGCTACGCCTCGGACC	0.692			T	"RARA, PAX5"	"APL, ALL"																																		Dom	yes		15	15q22	5371	promyelocytic leukemia		L	0													26	31	30					15																	74315583		2193	4284	6477	SO:0001819	synonymous_variant	5371			AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.1017C>T	15.37:g.74315583C>T			E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Silent	SNP	ENST00000268058.3	37	CCDS10255.1																																																																																				0.692	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269021.3	NM_002675		T	74315583	C	T	74315583	2	4	734	1	0	0	0	0	0	0	0	1	12137	547	19	1		1	PML	15	74315583	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	699601	74315583	28215809	750	42169											
PML	5371	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	15	74327978	74327978	+	Intron	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:74327978C>T	ENST00000268058.3	+	7	1806				PML_ENST00000395135.3_Intron|PML_ENST00000268059.6_Nonsense_Mutation_p.R726*|PML_ENST00000565898.1_Intron|PML_ENST00000436891.3_3'UTR|PML_ENST00000569965.1_Intron|PML_ENST00000395132.2_Intron|PML_ENST00000354026.6_Nonsense_Mutation_p.R678*|PML_ENST00000563500.1_3'UTR|PML_ENST00000359928.4_Intron|PML_ENST00000564428.1_Intron|PML_ENST00000435786.2_3'UTR	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						CCACCGGATACGAGGGGCTGT	0.627			T	"RARA, PAX5"	"APL, ALL"																																		Dom	yes		15	15q22	5371	promyelocytic leukemia		L	0													59	62	61					15																	74327978		2198	4296	6494	SO:0001627	intron_variant	5371			AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.1710+1107C>T	15.37:g.74327978C>T			E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Nonsense_Mutation	SNP	ENST00000268058.3	37	CCDS10255.1	.	.	.	.	.	.	.	.	.	.	C	18.71	3.681459	0.68042	.	.	ENSG00000140464	ENST00000268059;ENST00000354026	.	.	.	2.93	-1.43	0.08884	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.2058	0.03935	0.1872:0.3287:0.3666:0.1176	.	.	.	.	X	726;678	.	ENSP00000268059:R726X	R	+	1	2	PML	72115031	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.282000	0.08445	-0.309000	0.08779	0.462000	0.41574	CGA		0.627	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269021.3	NM_002675		T	74327978	C	T	74327978	1	4	734	0	1	0	0	0	0	0	0	0	12137	528	19	1		1	PML	15	74327978	Intron	SNP	C	TCGA-KN-8428-01A-11D-2310-10	12395	74327978	28203414	751	42170											
CCDC33	80125	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	15	74554873	74554873	+	Missense_Mutation	SNP	C	C	T	rs201382754		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:74554873C>T	ENST00000398814.3	+	3	709	c.278C>T	c.(277-279)aCg>aTg	p.T93M	CCDC33_ENST00000321288.5_Missense_Mutation_p.T296M	NM_025055.3	NP_079331.3	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	296										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						TGGGGGGACACGGTGAATGTG	0.582													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18790	0.0		0.0	False		,,,				2504	0.0															0								C	MET/THR	4,4038		0,4,2017	31	34	33		278	3.8	1	15		33	0,8320		0,0,4160	yes	missense	CCDC33	NM_025055.3	81	0,4,6177	TT,TC,CC		0.0,0.099,0.0324	probably-damaging	93/756	74554873	4,12358	2021	4160	6181	SO:0001583	missense	80125			BC025689	CCDS42058.1, CCDS42059.1, CCDS73753.1	15q24.1	2009-08-06				ENSG00000140481			26552	protein-coding gene	gene with protein product	"cancer/testis antigen 61"					12477932	Standard	NM_025055		Approved	FLJ32855, CT61	uc002axo.4	Q8N5R6		ENST00000398814.3:c.278C>T	15.37:g.74554873C>T	ENSP00000381795:p.Thr93Met		A8K3U4|A8MPQ6|A8MV61|A8MVU9|B3KQ49|Q8TAX6|Q9H5Q6	Missense_Mutation	SNP	ENST00000398814.3	37	CCDS42058.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.902160	0.52227	9.9E-4	0.0	ENSG00000140481	ENST00000321288;ENST00000398814	T;T	0.70631	-0.5;-0.5	4.67	3.75	0.43078	.	0.000000	0.38005	U	0.001850	T	0.78104	0.4231	M	0.65975	2.015	0.33452	D	0.583762	D	0.89917	1.0	D	0.66847	0.947	T	0.82020	-0.0664	10	0.48119	T	0.1	.	7.77	0.29001	0.0:0.8872:0.0:0.1128	.	93	Q8N5R6-6	.	M	296;93	ENSP00000325012:T296M;ENSP00000381795:T93M	ENSP00000325012:T296M	T	+	2	0	CCDC33	72341926	0.099000	0.21834	0.983000	0.44433	0.675000	0.39556	0.539000	0.23175	2.141000	0.66446	0.462000	0.41574	ACG		0.582	CCDC33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419491.2	NM_182791		T	74554873	C	T	74554873	3	4	734	1	0	0	0	0	1	0	0	0	2808	536	19	1	288	1	CCDC33	15	74554873	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	226895	74554873	27976519	752	42171											
LMAN1L	79748	broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	75108525	75108525	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:75108525G>A	ENST00000309664.5	+	2	342	c.203G>A	c.(202-204)cGg>cAg	p.R68Q	LMAN1L_ENST00000379709.3_Missense_Mutation_p.R68Q	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	68	L-type lectin-like. {ECO:0000255|PROSITE- ProRule:PRU00658}.					integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GAGGAAGTGCGGCTGACGCCA	0.642																																																0													31	26	27					15																	75108525		2159	4232	6391	SO:0001583	missense	79748			AF303398	CCDS10270.1	15q24.1	2005-08-05			ENSG00000140506	ENSG00000140506			6632	protein-coding gene	gene with protein product		609548				11255007	Standard	NM_021819		Approved	ERGL, ERGIC-53L	uc002ayt.1	Q9HAT1	OTTHUMG00000142813	ENST00000309664.5:c.203G>A	15.37:g.75108525G>A	ENSP00000310431:p.Arg68Gln		Q6UWN2	Missense_Mutation	SNP	ENST00000309664.5	37	CCDS10270.1	.	.	.	.	.	.	.	.	.	.	G	32	5.114969	0.94339	.	.	ENSG00000140506	ENST00000309664;ENST00000379709	T;T	0.67171	-0.25;-0.25	5.35	5.35	0.76521	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.64402	D	0.000005	D	0.84520	0.5490	M	0.89715	3.055	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.87546	0.2462	10	0.87932	D	0	.	14.5567	0.68106	0.0:0.0:1.0:0.0	.	68;68	Q9HAT1-3;Q9HAT1	.;LMA1L_HUMAN	Q	68	ENSP00000310431:R68Q;ENSP00000369031:R68Q	ENSP00000310431:R68Q	R	+	2	0	LMAN1L	72895578	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	3.605000	0.54088	2.508000	0.84585	0.484000	0.47621	CGG		0.642	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286397.4			A	75108525	G	A	75108525	3	1	734	1	0	0	0	0	1	0	0	0	8839	1116	39	1	209	1	LMAN1L	15	75108525	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	553652	75108525	27422867	753	42172											
SNX33	257364	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	15	75949418	75949418	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:75949418C>T	ENST00000308527.5	+	2	2784	c.1587C>T	c.(1585-1587)gcC>gcT	p.A529A		NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	529	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						CCCTGCAGGCCGAGATGAACC	0.627																																																0													99	82	88					15																	75949418		2197	4294	6491	SO:0001819	synonymous_variant	257364			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.1587C>T	15.37:g.75949418C>T			B1NM17	Silent	SNP	ENST00000308527.5	37	CCDS10283.1																																																																																				0.627	SNX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286471.1	NM_153271		T	75949418	C	T	75949418	2	4	734	1	0	0	0	0	0	0	0	1	14909	639	23	1		1	SNX33	15	75949418	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	840893	75949418	26581974	754	42173											
CSPG4	1464	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	15	75980709	75980709	+	Silent	SNP	C	C	T	rs144209551		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:75980709C>T	ENST00000308508.5	-	3	2789	c.2697G>A	c.(2695-2697)gcG>gcA	p.A899A		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	899	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1. {ECO:0000250}.|Interaction with COL6A2. {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						TGAGGACAGGCGCATCTGGGT	0.567																																																0								C		0,4392		0,0,2196	69	65	67		2697	-10	0	15	dbSNP_134	67	2,8586		0,2,4292	no	coding-synonymous	CSPG4	NM_001897.4		0,2,6488	TT,TC,CC		0.0233,0.0,0.0154		899/2323	75980709	2,12978	2196	4294	6490	SO:0001819	synonymous_variant	1464			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.2697G>A	15.37:g.75980709C>T			D3DW77|Q92675	Silent	SNP	ENST00000308508.5	37	CCDS10284.1																																																																																				0.567	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		T	75980709	C	T	75980709	2	4	734	1	0	0	0	0	0	0	0	1	3962	755	27	1		1	CSPG4	15	75980709	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	31291	75980709	26550683	755	42174											
TSPAN3	10099	hgsc.bcm.edu	37	15	77363263	77363263	+	Missense_Mutation	SNP	C	C	T	rs111428129	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:77363263C>T	ENST00000267970.4	-	1	307	c.34G>A	c.(34-36)Gtg>Atg	p.V12M	TSPAN3_ENST00000558745.1_Intron|TSPAN3_ENST00000561277.1_Intron|TSPAN3_ENST00000559494.1_Missense_Mutation_p.V12M|TSPAN3_ENST00000424443.3_Missense_Mutation_p.V12M|TSPAN3_ENST00000558394.1_5'UTR|TSPAN3_ENST00000346495.2_Missense_Mutation_p.V12M|RP11-797A18.6_ENST00000602975.1_RNA	NM_001168412.1|NM_005724.5|NM_198902.2	NP_001161884.1|NP_005715.1|NP_944492.1	O60637	TSN3_HUMAN	tetraspanin 3	12						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	10				all cancers(203;1.14e-19)		AAGACCAGCACGGTCTTGGAG	0.756													C|||	12	0.00239617	0.0	0.0014	5008	,	,		7377	0.0		0.0099	False		,,,				2504	0.001															0								C	MET/VAL,MET/VAL,MET/VAL	3,3785		0,3,1891	13	14	13		34,34,34	5.6	1	15	dbSNP_132	13	29,7105		0,29,3538	yes	missense,missense,missense	TSPAN3	NM_001168412.1,NM_005724.5,NM_198902.2	21,21,21	0,32,5429	TT,TC,CC		0.4065,0.0792,0.293	benign,benign,benign	12/190,12/254,12/229	77363263	32,10890	1894	3567	5461	SO:0001583	missense	10099				CCDS10292.1, CCDS10293.1, CCDS53963.1	15q23	2013-02-14	2005-03-21	2005-03-21	ENSG00000140391	ENSG00000140391		"Tetraspanins"	17752	protein-coding gene	gene with protein product		613134	"transmembrane 4 superfamily member 8"	TM4SF8			Standard	NM_005724		Approved	TM4-A, TSPAN-3	uc002bcj.3	O60637	OTTHUMG00000143728	ENST00000267970.4:c.34G>A	15.37:g.77363263C>T	ENSP00000267970:p.Val12Met		A6NEH4|B3KQQ2|B4DP19|Q9BW22|Q9NVX9	Missense_Mutation	SNP	ENST00000267970.4	37	CCDS10292.1	5	0.0022893772893772895	0	0.0	0	0.0	0	0.0	5	0.006596306068601583	C	32	5.138719	0.94560	7.92E-4	0.004065	ENSG00000140391	ENST00000267970;ENST00000424443;ENST00000346495	T;T;T	0.80653	-1.4;0.53;-1.4	5.58	5.58	0.84498	.	0.392961	0.24808	N	0.035429	T	0.78566	0.4303	L	0.45137	1.4	0.80722	D	1	D;P;B	0.59357	0.985;0.535;0.368	P;B;B	0.55749	0.783;0.169;0.169	T	0.79694	-0.1696	10	0.38643	T	0.18	.	16.4874	0.84188	0.0:1.0:0.0:0.0	.	12;12;12	B4DP19;A6NEH4;O60637	.;.;TSN3_HUMAN	M	12	ENSP00000267970:V12M;ENSP00000407243:V12M;ENSP00000341329:V12M	ENSP00000267970:V12M	V	-	1	0	TSPAN3	75150318	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.131000	0.50515	2.619000	0.88677	0.563000	0.77884	GTG		0.756	TSPAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289792.3	NM_005724		T	77363263	C	T	77363263	3	4	734	1	0	0	0	0	1	0	0	0	16650	536	19	1	755	1	TSPAN3	15	77363263	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1382554	77363263	25168129	756	42175											
RASGRF1	5923	mdanderson.org;bcgsc.ca	37	15	79324607	79324607	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:79324607A>G	ENST00000419573.3	-	7	1284	c.1010T>C	c.(1009-1011)gTc>gCc	p.V337A	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.V337A	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	337	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				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						GTGGTTGCGGACGAACTCTTG	0.587																																																0													182	108	133					15																	79324607		2196	4293	6489	SO:0001583	missense	5923			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.1010T>C	15.37:g.79324607A>G	ENSP00000405963:p.Val337Ala		F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	ENST00000419573.3	37	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.303454	0.81136	.	.	ENSG00000058335	ENST00000419573;ENST00000394741	T	0.64618	-0.11	4.35	4.35	0.52113	Dbl homology (DH) domain (5);	0.000000	0.64402	D	0.000001	T	0.74906	0.3778	M	0.74389	2.26	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;0.998	D;D;D;D	0.81914	0.986;0.991;0.995;0.984	T	0.72757	-0.4197	10	0.22706	T	0.39	.	11.5552	0.50743	1.0:0.0:0.0:0.0	.	337;337;337;337	A8K270;Q8IUU5;Q13972;F8VPA5	.;.;RGRF1_HUMAN;.	A	337	ENSP00000405963:V337A	ENSP00000378224:V337A	V	-	2	0	RASGRF1	77111662	1.000000	0.71417	0.656000	0.29637	0.959000	0.62525	8.915000	0.92740	1.833000	0.53350	0.402000	0.26972	GTC		0.587	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		G	79324607	A	G	79324607	3	3	734	1	0	0	0	0	1	0	0	0	13078	275	10	3	2899	3	RASGRF1	15	79324607	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	1961344	79324607	23206785	757	42176											
MESDC1	59274	broad.mit.edu;ucsc.edu;mdanderson.org	37	15	81295560	81295560	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:81295560C>T	ENST00000267984.2	+	1	2266	c.948C>T	c.(946-948)ggC>ggT	p.G316G		NM_022566.2	NP_072088.1	Q9H1K6	MESD1_HUMAN	mesoderm development candidate 1	316										endometrium(1)|lung(2)	3						CCGACGGGGGCGCCAAGATGT	0.672																																																0													11	14	13					15																	81295560		2197	4294	6491	SO:0001819	synonymous_variant	59274			AY007810	CCDS10316.1	15q13	2008-07-18			ENSG00000140406	ENSG00000140406			13519	protein-coding gene	gene with protein product		615466				11247670	Standard	NM_022566		Approved	MGC99595	uc002bfz.3	Q9H1K6	OTTHUMG00000144185	ENST00000267984.2:c.948C>T	15.37:g.81295560C>T				Silent	SNP	ENST00000267984.2	37	CCDS10316.1																																																																																				0.672	MESDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291390.1	NM_022566		T	81295560	C	T	81295560	2	4	734	1	0	0	0	0	0	0	0	1	9482	755	27	1		1	MESDC1	15	81295560	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1970953	81295560	21235832	758	42177											
TMC3	342125	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	15	81630237	81630237	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:81630237C>T	ENST00000359440.5	-	19	2245	c.2110G>A	c.(2110-2112)Gca>Aca	p.A704T	RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000560973.1_RNA|TMC3_ENST00000558726.1_Missense_Mutation_p.A705T|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						AGAGACCGTGCGATGCTCTGG	0.443																																																0													155	157	156					15																	81630237		2013	4183	6196	SO:0001583	missense	342125			AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.2110G>A	15.37:g.81630237C>T	ENSP00000352413:p.Ala704Thr			Missense_Mutation	SNP	ENST00000359440.5	37	CCDS45324.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.072804	0.76415	.	.	ENSG00000188869	ENST00000359440	T	0.66280	-0.2	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.63271	0.2497	L	0.40543	1.245	0.54753	D	0.999985	D;D	0.55385	0.965;0.971	B;P	0.51833	0.411;0.681	T	0.62378	-0.6867	10	0.35671	T	0.21	-18.4032	15.8865	0.79255	0.0:1.0:0.0:0.0	.	704;704	Q7Z5M5-2;Q7Z5M5	.;TMC3_HUMAN	T	704	ENSP00000352413:A704T	ENSP00000352413:A704T	A	-	1	0	TMC3	79417292	1.000000	0.71417	0.994000	0.49952	0.760000	0.43138	6.445000	0.73456	2.390000	0.81377	0.655000	0.94253	GCA		0.443	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3	NM_181841		T	81630237	C	T	81630237	3	4	734	1	0	0	0	0	1	0	0	0	15991	768	27	1	1208	1	TMC3	15	81630237	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	334677	81630237	20901155	759	42178											
TMC3	342125	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	15	81637207	81637207	+	Missense_Mutation	SNP	G	G	A	rs199835792		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:81637207G>A	ENST00000359440.5	-	13	1553	c.1418C>T	c.(1417-1419)aCc>aTc	p.T473I	RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000559277.1_RNA|TMC3_ENST00000558726.1_Missense_Mutation_p.T474I|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						TGAAATGCTGGTCTCTTCCAA	0.512																																																0								G	ILE/THR	0,3932		0,0,1966	118	113	115		1418	2.6	0	15		115	5,8309		0,5,4152	yes	missense	TMC3	NM_001080532.1	89	0,5,6118	AA,AG,GG		0.0601,0.0,0.0408	benign	473/1101	81637207	5,12241	1966	4157	6123	SO:0001583	missense	342125			AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.1418C>T	15.37:g.81637207G>A	ENSP00000352413:p.Thr473Ile			Missense_Mutation	SNP	ENST00000359440.5	37	CCDS45324.1	.	.	.	.	.	.	.	.	.	.	G	6.015	0.371195	0.11409	0.0	6.01E-4	ENSG00000188869	ENST00000359440	T	0.63744	-0.06	3.51	2.6	0.31112	.	1.197350	0.05767	N	0.605985	T	0.54727	0.1876	L	0.51422	1.61	0.09310	N	1	B;B	0.14438	0.0;0.01	B;B	0.14023	0.002;0.01	T	0.42749	-0.9433	10	0.41790	T	0.15	-2.3549	4.5851	0.12279	0.1137:0.0:0.6126:0.2737	.	473;473	Q7Z5M5-2;Q7Z5M5	.;TMC3_HUMAN	I	473	ENSP00000352413:T473I	ENSP00000352413:T473I	T	-	2	0	TMC3	79424262	0.000000	0.05858	0.002000	0.10522	0.017000	0.09413	0.211000	0.17474	1.049000	0.40321	-0.136000	0.14681	ACC		0.512	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3	NM_181841		A	81637207	G	A	81637207	3	1	734	1	0	0	0	0	1	0	0	0	15991	1261	44	2	1924	2	TMC3	15	81637207	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	6970	81637207	20894185	760	42179											
HOMER2	9455	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	15	83527811	83527811	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:83527811T>C	ENST00000304231.8	-	5	689	c.497A>G	c.(496-498)aAt>aGt	p.N166S	HOMER2_ENST00000399166.2_Missense_Mutation_p.N155S|HOMER2_ENST00000450735.2_Missense_Mutation_p.N155S|HOMER2_ENST00000426485.1_Missense_Mutation_p.N166S	NM_199330.2	NP_955362.1	Q9NSB8	HOME2_HUMAN	homer homolog 2 (Drosophila)	166					behavioral response to cocaine (GO:0048148)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|chemical homeostasis within a tissue (GO:0048875)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				cervix(1)|endometrium(2)|lung(6)	9						CAGCTTGTCATTCTCAGACTT	0.502																																																0													134	139	137					15																	83527811		2008	4168	6176	SO:0001583	missense	9455			AF093264	CCDS45334.1, CCDS45336.1	15q24.3	2008-02-05				ENSG00000103942			17513	protein-coding gene	gene with protein product		604799				9808459, 9808458	Standard	NM_199330		Approved	CPD, Cupidin, Vesl-2, HOMER-2B, HOMER-2, HOMER-2A	uc002bjg.3	Q9NSB8		ENST00000304231.8:c.497A>G	15.37:g.83527811T>C	ENSP00000305632:p.Asn166Ser		O95269|O95349|Q9NSB6|Q9NSB7|Q9UNT7	Missense_Mutation	SNP	ENST00000304231.8	37	CCDS45334.1	.	.	.	.	.	.	.	.	.	.	t	13.46	2.244416	0.39697	.	.	ENSG00000103942	ENST00000304231;ENST00000450735;ENST00000426485;ENST00000399166	T;T;T;T	0.77358	2.11;-1.09;2.4;2.45	5.92	5.92	0.95590	.	0.204008	0.49916	D	0.000127	T	0.77798	0.4184	M	0.80982	2.52	0.48511	D	0.999668	B;P;P;P	0.46142	0.041;0.835;0.873;0.835	B;B;B;B	0.38156	0.096;0.18;0.266;0.238	T	0.79125	-0.1932	10	0.33940	T	0.23	.	15.5454	0.76093	0.0:0.0:0.0:1.0	.	155;166;155;166	F8W826;E9PAZ1;Q9NSB8-2;Q9NSB8	.;.;.;HOME2_HUMAN	S	166;155;166;155	ENSP00000305632:N166S;ENSP00000407634:N155S;ENSP00000394293:N166S;ENSP00000382119:N155S	ENSP00000305632:N166S	N	-	2	0	HOMER2	81324865	1.000000	0.71417	0.933000	0.37362	0.573000	0.36030	7.135000	0.77276	2.260000	0.74910	0.529000	0.55759	AAT		0.502	HOMER2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418689.1			C	83527811	T	C	83527811	3	2	734	1	0	0	0	0	1	0	0	0	7281	1493	52	3	587	3	HOMER2	15	83527811	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	1890604	83527811	19003581	761	42180											
ALPK3	57538	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	15	85403008	85403008	+	Splice_Site	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:85403008G>A	ENST00000258888.5	+	8	4740	c.4573G>A	c.(4573-4575)Gca>Aca	p.A1525T		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1525	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)			ACTCTGCAGCGCAGGGGATGA	0.657																																																0													20	19	19					15																	85403008		2202	4297	6499	SO:0001630	splice_region_variant	57538			AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17574	protein-coding gene	gene with protein product	"myocyte induction differentiation originator", "muscle alpha-kinase"					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.4572-1G>A	15.37:g.85403008G>A			Q9P2L6	Missense_Mutation	SNP	ENST00000258888.5	37	CCDS10333.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.006425	0.93287	.	.	ENSG00000136383	ENST00000258888	T	0.40476	1.03	5.45	5.45	0.79879	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.139747	0.49305	D	0.000153	T	0.56426	0.1984	L	0.55481	1.735	0.44268	D	0.997126	D	0.76494	0.999	D	0.66084	0.941	T	0.58476	-0.7630	10	0.87932	D	0	-6.3153	11.8267	0.52271	0.0:0.0:0.8249:0.1751	.	1525	Q96L96	ALPK3_HUMAN	T	1525	ENSP00000258888:A1525T	ENSP00000258888:A1525T	A	+	1	0	ALPK3	83204012	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	3.260000	0.51523	2.564000	0.86499	0.563000	0.77884	GCA		0.657	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778	Missense_Mutation	A	85403008	G	A	85403008	5	1	734	1	0	0	0	0	0	0	1	0	546	1101	38	1	4603	1	ALPK3	15	85403008	Splice_Site	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1875197	85403008	17128384	762	42181											
AGBL1	123624	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	15	86807816	86807816	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:86807816G>A	ENST00000441037.2	+	10	1371	c.1276G>A	c.(1276-1278)Gca>Aca	p.A426T	AGBL1_ENST00000389298.3_Missense_Mutation_p.A157T|AGBL1_ENST00000421325.2_Missense_Mutation_p.A426T	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	426					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						GGACGTAGATGCAATTTTCTG	0.443																																																0													102	103	103					15																	86807816		1884	4119	6003	SO:0001583	missense	123624			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.1276G>A	15.37:g.86807816G>A	ENSP00000413001:p.Ala426Thr		A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	37	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	G	11.05	1.525621	0.27299	.	.	ENSG00000166748	ENST00000441037;ENST00000421325;ENST00000389298	T;T	0.09817	2.94;2.94	5.44	0.615	0.17608	Armadillo-type fold (1);	1.706500	0.02572	N	0.097924	T	0.11965	0.0291	L	0.56769	1.78	0.09310	N	1	P;B;B	0.37276	0.589;0.053;0.004	B;B;B	0.33392	0.163;0.022;0.002	T	0.33007	-0.9885	10	0.25751	T	0.34	0.0701	6.5659	0.22511	0.5759:0.0:0.4241:0.0	.	125;157;426	Q96MI9-2;Q96MI9-3;Q96MI9	.;.;CBPC4_HUMAN	T	455;426;157	ENSP00000397173:A426T;ENSP00000373949:A157T	ENSP00000373949:A157T	A	+	1	0	AGBL1	84608820	0.000000	0.05858	0.000000	0.03702	0.114000	0.19823	-0.445000	0.06845	0.286000	0.22352	0.650000	0.86243	GCA		0.443	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		A	86807816	G	A	86807816	3	1	734	1	0	0	0	0	1	0	0	0	375	1319	46	2	1310	2	AGBL1	15	86807816	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1404808	86807816	15723576	763	42182											
NTRK3	4916	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	15	88420245	88420245	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:88420245C>T	ENST00000360948.2	-	19	2602	c.2441G>A	c.(2440-2442)cGg>cAg	p.R814Q	NTRK3_ENST00000394480.2_Missense_Mutation_p.R800Q|NTRK3_ENST00000557856.1_Missense_Mutation_p.R792Q|NTRK3_ENST00000355254.2_Missense_Mutation_p.R800Q|NTRK3_ENST00000357724.2_Missense_Mutation_p.R806Q	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	814	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			GATGTTCAACCGCTGCTGTGG	0.547			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)																													Dom	yes		15	15q25	4916	"neurotrophic tyrosine kinase, receptor, type 3"		"E, M"	0													155	123	134					15																	88420245		2201	4299	6500	SO:0001583	missense	4916			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.2441G>A	15.37:g.88420245C>T	ENSP00000354207:p.Arg814Gln		B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	37	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	C	35	5.501625	0.96371	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254	D;D;D;D	0.98345	-4.88;-4.88;-4.88;-4.88	5.58	5.58	0.84498	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	0.99426	0.9797	H	0.97983	4.12	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.99;1.0	D	0.98364	1.0550	10	0.87932	D	0	.	18.1313	0.89602	0.0:1.0:0.0:0.0	.	792;800;814	B7Z4C5;Q16288-3;Q16288	.;.;NTRK3_HUMAN	Q	800;814;806;800	ENSP00000377990:R800Q;ENSP00000354207:R814Q;ENSP00000350356:R806Q;ENSP00000347397:R800Q	ENSP00000347397:R800Q	R	-	2	0	NTRK3	86221249	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.636000	0.83301	2.640000	0.89533	0.561000	0.74099	CGG		0.547	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				T	88420245	C	T	88420245	3	4	734	1	0	0	0	0	1	0	0	0	10710	652	23	1	82	1	NTRK3	15	88420245	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1612429	88420245	14111147	764	42183											
IGF1R	3480	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	15	99454671	99454671	+	Splice_Site	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:99454671G>A	ENST00000268035.6	+	7	2200		c.e7+1		IGF1R_ENST00000558762.1_Splice_Site	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor						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)"	ACAAGGAAGCGTGAGTTTCTG	0.537																																																0													158	141	147					15																	99454671		2197	4297	6494	SO:0001630	splice_region_variant	3480			M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"CD molecules", "Fibronectin type III domain containing"	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.1589+1G>A	15.37:g.99454671G>A			B1B5Y2|Q14CV2|Q9UCC0	Splice_Site	SNP	ENST00000268035.6	37	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.005527	0.93287	.	.	ENSG00000140443	ENST00000268035	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1313	0.98000	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IGF1R	97272194	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.778000	0.99011	2.837000	0.97791	0.655000	0.94253	.		0.537	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875	Intron	A	99454671	G	A	99454671	5	1	734	1	0	0	0	0	0	0	1	0	7573	1159	40	1	1616	1	IGF1R	15	99454671	Splice_Site	SNP	G	TCGA-KN-8428-01A-11D-2310-10	11034426	99454671	3076721	765	42184											
OR4F15	390649	broad.mit.edu	37	15	102359272	102359272	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:102359272A>G	ENST00000332238.4	+	1	907	c.883A>G	c.(883-885)Aaa>Gaa	p.K295E		NM_001001674.1	NP_001001674.1	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F, member 15	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)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19	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)			CAAAGACATGAAAGTGGCAAT	0.383																																																0													67	58	61					15																	102359272		2203	4300	6503	SO:0001583	missense	390649			BK004405	CCDS32342.1	15q26.3	2012-08-09				ENSG00000182854		"GPCR / Class A : Olfactory receptors"	15078	protein-coding gene	gene with protein product							Standard	NM_001001674		Approved		uc010uts.2	Q8NGB8		ENST00000332238.4:c.883A>G	15.37:g.102359272A>G	ENSP00000333184:p.Lys295Glu		B2RNQ5|Q6IF57|Q96R70	Missense_Mutation	SNP	ENST00000332238.4	37	CCDS32342.1	.	.	.	.	.	.	.	.	.	.	.	13.80	2.344493	0.41498	.	.	ENSG00000182854	ENST00000332238	T	0.41065	1.01	5.46	4.32	0.51571	.	.	.	.	.	T	0.62245	0.2412	M	0.93016	3.37	0.29484	N	0.8561	P	0.45283	0.855	P	0.49597	0.616	T	0.66015	-0.6028	8	.	.	.	.	10.9232	0.47178	0.8426:0.1574:0.0:0.0	.	295	Q8NGB8	O4F15_HUMAN	E	295	ENSP00000333184:K295E	.	K	+	1	0	OR4F15	100176795	0.985000	0.35326	0.848000	0.33437	0.046000	0.14306	3.710000	0.54860	1.067000	0.40740	0.528000	0.53228	AAA		0.383	OR4F15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417594.1	NM_001001674		G	102359272	A	G	102359272	3	3	734	1	0	0	0	0	1	0	0	0	11063	247	9	3	885	3	OR4F15	15	102359272	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	2904601	102359272	172120	766	42185											
RHBDL1	9028	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	16	727990	727990	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:727990G>A	ENST00000219551.2	+	7	1282	c.1255G>A	c.(1255-1257)Gcc>Acc	p.A419T	STUB1_ENST00000219548.4_5'Flank|LA16c-313D11.9_ENST00000567091.1_RNA|RHBDL1_ENST00000352681.3_Missense_Mutation_p.A354T|LA16c-313D11.9_ENST00000571933.1_RNA|STUB1_ENST00000565677.1_5'Flank			O75783	RHBL1_HUMAN	rhomboid, veinlet-like 1 (Drosophila)	419					signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(1)|lung(4)|urinary_tract(3)	9		Hepatocellular(780;0.0218)				CCTGCTCTTCGCCGTCTTCTG	0.687																																																0													53	46	49					16																	727990		2195	4296	6491	SO:0001583	missense	9028			Y17108	CCDS61779.1	16p13.3	2008-02-05	2001-11-28	2003-04-11	ENSG00000103269	ENSG00000103269			10007	protein-coding gene	gene with protein product		603264	"rhomboid (veinlet, Drosophila)-like"	RHBDL		9662444	Standard	NM_001278720		Approved	RRP	uc002cis.1	O75783	OTTHUMG00000121141	ENST00000219551.2:c.1255G>A	16.37:g.727990G>A	ENSP00000219551:p.Ala419Thr		A2IDC0|A2IDC1|Q0VAX4|Q9NQ85	Missense_Mutation	SNP	ENST00000219551.2	37	CCDS10418.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.620438	0.87460	.	.	ENSG00000103269	ENST00000352681;ENST00000219551	T;T	0.38401	1.21;1.14	4.41	4.41	0.53225	.	0.000000	0.85682	D	0.000000	T	0.53351	0.1791	L	0.58583	1.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.65684	0.937;0.925	T	0.54603	-0.8269	10	0.48119	T	0.1	-19.5669	14.4906	0.67647	0.0:0.0:1.0:0.0	.	419;354	O75783;O75783-2	RHBL1_HUMAN;.	T	354;419	ENSP00000344206:A354T;ENSP00000219551:A419T	ENSP00000219551:A419T	A	+	1	0	RHBDL1	667991	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.376000	0.97181	1.998000	0.58463	0.561000	0.74099	GCC		0.687	RHBDL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000241619.1	NM_003961		A	727990	G	A	727990	3	1	734	1	0	0	0	0	1	0	0	0	13327	1087	38	1	1281	1	RHBDL1	16	727990	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10		727990	89626763	767	42186											
MSLN	10232	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	16	818456	818456	+	Silent	SNP	G	G	A	rs201466189	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:818456G>A	ENST00000382862.3	+	16	1793	c.1698G>A	c.(1696-1698)ccG>ccA	p.P566P	MIR662_ENST00000384847.1_RNA|MSLN_ENST00000563941.1_Silent_p.P558P|MSLN_ENST00000566549.1_Silent_p.P558P|MSLN_ENST00000545450.2_Silent_p.P558P	NM_013404.4	NP_037536.2	Q13421	MSLN_HUMAN	mesothelin	566					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)				GGCACCGCCCGGTGCGGGACT	0.687																																																0								G	,,	0,4354		0,0,2177	23	29	27		1674,1674,1698	-8.5	0	16		27	1,8563	1.2+/-3.3	0,1,4281	no	coding-synonymous,coding-synonymous,coding-synonymous	MSLN	NM_001177355.1,NM_005823.5,NM_013404.4	,,	0,1,6458	AA,AG,GG		0.0117,0.0,0.0077	,,	558/623,558/623,566/631	818456	1,12917	2177	4282	6459	SO:0001819	synonymous_variant	10232			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.1698G>A	16.37:g.818456G>A			D3DU65|Q14859|Q4VQD5|Q96GR6|Q96KJ5|Q9BR17|Q9BTR2|Q9UCB2|Q9UK57	Silent	SNP	ENST00000382862.3	37	CCDS32356.1																																																																																				0.687	MSLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109253.2			A	818456	G	A	818456	2	1	734	1	0	0	0	0	0	0	0	1	9883	1103	39	1		1	MSLN	16	818456	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	90466	818456	89536297	768	42187											
TPSAB1	7177	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	16	1291624	1291624	+	Silent	SNP	C	C	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:1291624C>G	ENST00000338844.3	+	4	456	c.423C>G	c.(421-423)acC>acG	p.T141T	TPSAB1_ENST00000461509.2_Silent_p.T148T	NM_003294.3	NP_003285.2	Q15661	TRYB1_HUMAN	tryptase alpha/beta 1	141	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		T -> A (in dbSNP:rs1800992). {ECO:0000269|PubMed:10898108}.|T -> M (in allele alpha).		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)				ACACGGTCACCCTGCCCCCTG	0.662																																																0													31	25	27					16																	1291624		2198	4297	6495	SO:0001819	synonymous_variant	7177			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.423C>G	16.37:g.1291624C>G			D2E6R9|D2E6S1|P15157|Q15663|Q6B052|Q9H2Y4|Q9H2Y5|Q9UQI1	Silent	SNP	ENST00000338844.3	37	CCDS10431.1																																																																																				0.662	TPSAB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000206914.1	NM_003294		G	1291624	C	G	1291624	2	3	734	1	0	0	0	0	0	0	0	1	16428	610	22	4		4	TPSAB1	16	1291624	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	473168	1291624	89063129	769	42188											
TPSD1	23430	broad.mit.edu;ucsc.edu;mdanderson.org	37	16	1306310	1306311	+	Missense_Mutation	DNP	GC	GC	AT	rs201494832		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	GC	GC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:1306310_1306311GC>AT	ENST00000211076.3	+	1	177_178	c.29_30GC>AT	c.(28-30)aGC>aAT	p.S10N	TPSD1_ENST00000397534.2_Missense_Mutation_p.S3N|RP11-616M22.5_ENST00000566997.1_RNA	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	10						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.S10I(1)		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)				CAGATGCTGAGCCTGCTGCTGC	0.683																																																1	Substitution - Missense(1)	lung(1)																																								SO:0001583	missense	23430			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	Exception_encountered	16.37:g.1306310_1306311delinsAT	ENSP00000211076:p.Ser10Asn		O95824|Q8TDI6|Q96L36|Q96RZ5|Q9H2Y6|Q9UQI8	Silent	DNP	ENST00000211076.3	37	CCDS10432.1																																																																																				0.683	TPSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250320.2			AT	1306311	GC	AT	1306310	3	1	734	1	0	0	0	0	1	0	0	0	16430	971	34	2	31	2	TPSD1	16	1306310	Missense_Mutation	DNP	GC	TCGA-KN-8428-01A-11D-2310-10	14686	1306310	89048443	770	42189											
TPSD1	23430	ucsc.edu;mdanderson.org	37	16	1306954	1306954	+	Silent	SNP	C	C	G	rs61729110	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:1306954C>G	ENST00000211076.3	+	3	559	c.411C>G	c.(409-411)ccC>ccG	p.P137P	TPSD1_ENST00000397534.2_Silent_p.P130P|RP11-616M22.5_ENST00000566997.1_RNA	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	137	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)				TGGAGGAGCCCGTGAACATCT	0.667													c|||	60	0.0119808	0.0454	0.0	5008	,	,		18890	0.0		0.0	False		,,,				2504	0.0															0								C		166,4232	100.7+/-139.4	2,162,2035	58	58	58		411	-1.9	0.1	16	dbSNP_129	58	1,8595		0,1,4297	no	coding-synonymous	TPSD1	NM_012217.2		2,163,6332	GG,GC,CC		0.0116,3.7744,1.2852		137/243	1306954	167,12827	2199	4298	6497	SO:0001819	synonymous_variant	23430			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.411C>G	16.37:g.1306954C>G			O95824|Q8TDI6|Q96L36|Q96RZ5|Q9H2Y6|Q9UQI8	Silent	SNP	ENST00000211076.3	37	CCDS10432.1																																																																																				0.667	TPSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250320.2			G	1306954	C	G	1306954	2	3	734	1	0	0	0	0	0	0	0	1	16430	639	23	4		4	TPSD1	16	1306954	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	644	1306954	89047799	771	42190	392	2									
TPSD1	23430	ucsc.edu;bcgsc.ca	37	16	1306961	1306961	+	Missense_Mutation	SNP	A	A	G	rs139077060		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:1306961A>G	ENST00000211076.3	+	3	566	c.418A>G	c.(418-420)Atc>Gtc	p.I140V	TPSD1_ENST00000397534.2_Missense_Mutation_p.I133V|RP11-616M22.5_ENST00000566997.1_RNA	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	140	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)				GCCCGTGAACATCTCCAGCCA	0.652																																																0								A	VAL/ILE	1,4397		0,1,2198	52	51	51		418	-1.8	0.1	16	dbSNP_134	51	0,8596		0,0,4298	no	missense	TPSD1	NM_012217.2	29	0,1,6496	GG,GA,AA		0.0,0.0227,0.0077	benign	140/243	1306961	1,12993	2199	4298	6497	SO:0001583	missense	23430			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.418A>G	16.37:g.1306961A>G	ENSP00000211076:p.Ile140Val		O95824|Q8TDI6|Q96L36|Q96RZ5|Q9H2Y6|Q9UQI8	Missense_Mutation	SNP	ENST00000211076.3	37	CCDS10432.1	.	.	.	.	.	.	.	.	.	.	a	0.001	-3.254975	0.00022	2.27E-4	0.0	ENSG00000095917	ENST00000397534;ENST00000211076	D;D	0.81499	-1.5;-1.5	2.55	-1.82	0.07857	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.511430	0.04283	N	0.344227	T	0.62441	0.2428	N	0.17674	0.51	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.11329	0.001;0.006	T	0.41822	-0.9487	10	0.15499	T	0.54	.	2.4188	0.04443	0.3756:0.0:0.2912:0.3332	.	124;140	C9JJL5;Q9BZJ3	.;TRYD_HUMAN	V	133;140	ENSP00000380668:I133V;ENSP00000211076:I140V	ENSP00000211076:I140V	I	+	1	0	TPSD1	1246962	0.000000	0.05858	0.056000	0.19401	0.068000	0.16541	-2.552000	0.00927	-0.143000	0.11334	-1.425000	0.01104	ATC		0.652	TPSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250320.2			G	1306961	A	G	1306961	3	3	734	1	0	0	0	0	1	0	0	0	16430	217	8	3	428	3	TPSD1	16	1306961	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	7	1306961	89047792	772	42191	392	2									
IFT140	9742	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	16	1574679	1574679	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:1574679G>A	ENST00000426508.2	-	24	3378	c.3015C>T	c.(3013-3015)aaC>aaT	p.N1005N	IFT140_ENST00000361339.5_Silent_p.N199N	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	1005					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)				TTCCTGTCTCGTTGGCTATTT	0.647																																																0													53	55	54					16																	1574679		2199	4300	6499	SO:0001819	synonymous_variant	9742			AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"Intraflagellar transport homologs", "WD repeat domain containing"	29077	protein-coding gene	gene with protein product		614620	"WD and tetratricopeptide repeats 2", "intraflagellar transport 140 homolog (Chlamydomonas)"	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.3015C>T	16.37:g.1574679G>A			A2A2A8|D3DU75|O60332|Q9UG52	Silent	SNP	ENST00000426508.2	37	CCDS10439.1																																																																																				0.647	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		A	1574679	G	A	1574679	2	1	734	1	0	0	0	0	0	0	0	1	7558	1136	40	1		1	IFT140	16	1574679	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	267718	1574679	88780074	773	42192											
IFT140	9742	broad.mit.edu	37	16	1612076	1612076	+	Silent	SNP	G	G	A	rs375957506		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:1612076G>A	ENST00000426508.2	-	18	2472	c.2109C>T	c.(2107-2109)caC>caT	p.H703H	IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	703					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)				GCAGGAAGCCGTGCTCTTCGG	0.463																																																0								G		1,4397	2.1+/-5.4	0,1,2198	70	71	71		2109	-9.5	0.4	16		71	0,8600		0,0,4300	no	coding-synonymous	IFT140	NM_014714.3		0,1,6498	AA,AG,GG		0.0,0.0227,0.0077		703/1463	1612076	1,12997	2199	4300	6499	SO:0001819	synonymous_variant	9742			AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"Intraflagellar transport homologs", "WD repeat domain containing"	29077	protein-coding gene	gene with protein product		614620	"WD and tetratricopeptide repeats 2", "intraflagellar transport 140 homolog (Chlamydomonas)"	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.2109C>T	16.37:g.1612076G>A			A2A2A8|D3DU75|O60332|Q9UG52	Silent	SNP	ENST00000426508.2	37	CCDS10439.1																																																																																				0.463	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		A	1612076	G	A	1612076	2	1	734	1	0	0	0	0	0	0	0	1	7558	1136	40	1		1	IFT140	16	1612076	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	37397	1612076	88742677	774	42193											
SEPX1	6123	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	16	1991404	1991404	+	IGR	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:1991404C>T	ENST00000268661.7	-	0	2182				MSRB1_ENST00000564908.1_Missense_Mutation_p.V20I|MSRB1_ENST00000399753.2_Missense_Mutation_p.V20I|MSRB1_ENST00000489198.1_5'UTR|MSRB1_ENST00000361871.3_Missense_Mutation_p.V20I	NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like						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)|membrane (GO:0016020)|ribosome (GO:0005840)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						CACACGTAAACGCCTGTGGTG	0.592																																																0													30	33	32					16																	1991404		2092	4221	6313	SO:0001628	intergenic_variant	51734			U65581	CCDS10450.1	16p13.3	2008-02-05			ENSG00000140986	ENSG00000140986		"L ribosomal proteins"	10351	protein-coding gene	gene with protein product						8921388	Standard	NM_005061		Approved		uc002cnh.3	Q92901	OTTHUMG00000128685		16.37:g.1991404C>T				Missense_Mutation	SNP	ENST00000268661.7	37	CCDS10450.1	.	.	.	.	.	.	.	.	.	.	C	10.06	1.247097	0.22796	.	.	ENSG00000198736	ENST00000361871;ENST00000399753	T;T	0.75154	-0.91;-0.91	4.74	-6.66	0.01789	Mss4-like (1);Methionine sulphoxide reductase B (2);	0.829113	0.11048	N	0.605335	T	0.43166	0.1235	N	0.03891	-0.335	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.50171	-0.8859	10	0.02654	T	1	1.6117	15.1597	0.72775	0.0:0.2787:0.0:0.7213	.	20	Q9NZV6	MSRB1_HUMAN	I	20	ENSP00000355084:V20I;ENSP00000382657:V20I	ENSP00000355084:V20I	V	-	1	0	SEPX1	1931405	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.249000	0.08842	-1.211000	0.02624	-1.769000	0.00663	GTT		0.592	RPL3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250582.2	NM_005061		T	1991404	C	T	1991404	1	4	734	0	1	0	0	0	0	0	0	0	14079	536	19	1		1	SEPX1	16	1991404	IGR	SNP	C	TCGA-KN-8428-01A-11D-2310-10	379328	1991404	88363349	775	42194											
TBL3	10607	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	16	2026870	2026870	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:2026870C>T	ENST00000568546.1	+	14	1476	c.1348C>T	c.(1348-1350)Cct>Tct	p.P450S		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	450					G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|intracellular signal transduction (GO:0035556)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						GAAGCTGTGGCCTCTTCCCAA	0.602																																					Melanoma(118;616 1651 35077 38081 48633)											0													103	83	90					16																	2026870		2198	4300	6498	SO:0001583	missense	10607			U02609	CCDS10453.1	16p13.3	2013-01-10			ENSG00000183751	ENSG00000183751		"WD repeat domain containing"	11587	protein-coding gene	gene with protein product		605915				8307582	Standard	NM_006453		Approved	SAZD, UTP13	uc002cnu.1	Q12788	OTTHUMG00000128710	ENST00000568546.1:c.1348C>T	16.37:g.2026870C>T	ENSP00000454836:p.Pro450Ser		Q59GD6|Q8IVB7|Q96A78	Missense_Mutation	SNP	ENST00000568546.1	37	CCDS10453.1	.	.	.	.	.	.	.	.	.	.	C	8.346	0.829811	0.16749	.	.	ENSG00000183751	ENST00000332704	.	.	.	5.27	4.3	0.51218	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.683346	0.15040	N	0.283918	T	0.14960	0.0361	N	0.01668	-0.77	0.35595	D	0.807376	B;P	0.36990	0.097;0.577	B;B	0.31442	0.048;0.13	T	0.14952	-1.0454	9	0.28530	T	0.3	-25.4819	8.6372	0.33955	0.2797:0.5848:0.1355:0.0	.	212;450	A0JLS5;Q12788	.;TBL3_HUMAN	S	450	.	ENSP00000331815:P450S	P	+	1	0	TBL3	1966871	1.000000	0.71417	0.996000	0.52242	0.960000	0.62799	1.635000	0.37134	1.186000	0.42985	0.561000	0.74099	CCT		0.602	TBL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250615.3	NM_006453		T	2026870	C	T	2026870	3	4	734	1	0	0	0	0	1	0	0	0	15648	739	26	2	1402	2	TBL3	16	2026870	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	35466	2026870	88327883	776	42195											
NTHL1	4913	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	16	2093638	2093638	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:2093638C>T	ENST00000219066.1	-	4	657	c.639G>A	c.(637-639)gcG>gcA	p.A213A	NTHL1_ENST00000562951.1_5'UTR	NM_002528.5	NP_002519.1			nth endonuclease III-like 1 (E. coli)											lung(1)	1						CACCCGGCAGCGCCACCAGCT	0.627								Base excision repair (BER), DNA glycosylases																																								0																																										SO:0001819	synonymous_variant	4913			U81285	CCDS10457.1	16p13.3	2008-02-05	2001-11-28		ENSG00000065057	ENSG00000065057			8028	protein-coding gene	gene with protein product		602656	"nth (E.coli endonuclease III)-like 1"			9045706, 8990169	Standard	NM_002528		Approved	NTH1, OCTS3	uc002col.1	P78549	OTTHUMG00000128744	ENST00000219066.1:c.639G>A	16.37:g.2093638C>T				Silent	SNP	ENST00000219066.1	37	CCDS10457.1																																																																																				0.627	NTHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250656.1	NM_002528		T	2093638	C	T	2093638	2	4	734	1	0	0	0	0	0	0	0	1	10700	755	27	1		1	NTHL1	16	2093638	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	66768	2093638	88261115	777	42196											
TRAF7	84231	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	16	2226329	2226329	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:2226329G>A	ENST00000326181.6	+	20	2074	c.1942G>A	c.(1942-1944)Gcg>Acg	p.A648T		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	648					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						CAGTGTCACCGCGCTGGCTGT	0.642																																																0													24	23	23					16																	2226329		2189	4297	6486	SO:0001583	missense	84231			AL136921	CCDS10461.1	16p13.3	2013-01-10	2012-02-23	2004-06-04	ENSG00000131653	ENSG00000131653		"RING-type (C3HC4) zinc fingers", "WD repeat domain containing"	20456	protein-coding gene	gene with protein product		606692	"ring finger and WD repeat domain 1", "TNF receptor-associated factor 7"	RFWD1		11230166, 15001576	Standard	NM_032271		Approved	RNF119, DKFZp586I021, MGC7807	uc002cow.3	Q6Q0C0	OTTHUMG00000128826	ENST00000326181.6:c.1942G>A	16.37:g.2226329G>A	ENSP00000318944:p.Ala648Thr		Q9H073	Missense_Mutation	SNP	ENST00000326181.6	37	CCDS10461.1	.	.	.	.	.	.	.	.	.	.	G	18.56	3.650320	0.67472	.	.	ENSG00000131653	ENST00000326181	T	0.61510	0.1	4.99	4.99	0.66335	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	0.44117	0.1278	N	0.25380	0.74	0.80722	D	1	P	0.34724	0.465	B	0.28385	0.089	T	0.41270	-0.9518	10	0.35671	T	0.21	-34.4038	17.4344	0.87547	0.0:0.0:1.0:0.0	.	648	Q6Q0C0	TRAF7_HUMAN	T	648	ENSP00000318944:A648T	ENSP00000318944:A648T	A	+	1	0	TRAF7	2166330	1.000000	0.71417	0.209000	0.23619	0.664000	0.39144	8.732000	0.91534	2.599000	0.87857	0.563000	0.77884	GCG		0.642	TRAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250762.1	NM_032271		A	2226329	G	A	2226329	3	1	734	1	0	0	0	0	1	0	0	0	16451	1087	38	1	2016	1	TRAF7	16	2226329	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	132691	2226329	88128424	778	42197											
E4F1	1877	mdanderson.org	37	16	2282184	2282184	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:2282184T>C	ENST00000301727.4	+	4	476	c.428T>C	c.(427-429)aTc>aCc	p.I143T	E4F1_ENST00000564139.1_Missense_Mutation_p.I143T|E4F1_ENST00000565090.1_Missense_Mutation_p.I143T	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	143					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						GGTGGGCACATCAAAGAGGTC	0.692																																																0													62	74	70					16																	2282184		2196	4290	6486	SO:0001583	missense	1877			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.428T>C	16.37:g.2282184T>C	ENSP00000301727:p.Ile143Thr		A8K2R4|O00146	Missense_Mutation	SNP	ENST00000301727.4	37	CCDS32370.1	.	.	.	.	.	.	.	.	.	.	T	10.68	1.417085	0.25552	.	.	ENSG00000167967	ENST00000301727	T	0.06768	3.26	5.33	5.33	0.75918	.	0.250879	0.44097	D	0.000499	T	0.20901	0.0503	L	0.53249	1.67	0.36522	D	0.870225	D;D;D	0.63880	0.988;0.988;0.993	P;P;D	0.72338	0.728;0.788;0.977	T	0.15206	-1.0445	10	0.18710	T	0.47	-31.1599	12.6759	0.56893	0.0:0.0:0.0:1.0	.	139;143;143	E9PFZ8;E7EMF7;Q66K89	.;.;E4F1_HUMAN	T	143	ENSP00000301727:I143T	ENSP00000301727:I143T	I	+	2	0	E4F1	2222185	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	0.816000	0.27267	2.026000	0.59711	0.459000	0.35465	ATC		0.692	E4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435225.1	NM_004424		C	2282184	T	C	2282184	3	2	734	1	0	0	0	0	1	0	0	0	4876	1435	50	3	442	3	E4F1	16	2282184	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	55855	2282184	88072569	779	42198											
CEMP1	752014	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	16	2580968	2580968	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:2580968C>T	ENST00000567119.1	-	1	441	c.107G>A	c.(106-108)gGc>gAc	p.G36D	AMDHD2_ENST00000565570.1_3'UTR|CEMP1_ENST00000382350.1_Missense_Mutation_p.G36D|AMDHD2_ENST00000302956.4_3'UTR|MIR3178_ENST00000581887.1_RNA|CEMP1_ENST00000565480.1_Missense_Mutation_p.G36D	NM_001048212.3	NP_001041677.1	Q6PRD7	CEMP1_HUMAN	cementum protein 1	36						cytoplasm (GO:0005737)				lung(1)|skin(1)	2						AGCTGTCTTGCCAGGGCTCCC	0.632																																																0													33	39	37					16																	2580968		2033	4178	6211	SO:0001583	missense	752014			AY584596	CCDS42108.1	16p13.3	2006-09-22							32553	protein-coding gene	gene with protein product	"cementum protein-23"	611113				16263347	Standard	NM_001048212		Approved	CP-23	uc002cqr.3	Q6PRD7		ENST00000567119.1:c.107G>A	16.37:g.2580968C>T	ENSP00000457380:p.Gly36Asp		B2RUY1	Missense_Mutation	SNP	ENST00000567119.1	37	CCDS42108.1	.	.	.	.	.	.	.	.	.	.	C	2.931	-0.220975	0.06061	.	.	ENSG00000205923	ENST00000382350	T	0.59083	0.29	1.38	-2.75	0.05914	.	.	.	.	.	T	0.30696	0.0773	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.10019	-1.0648	9	0.87932	D	0	.	3.7716	0.08643	0.0:0.2959:0.4032:0.3009	.	36	Q6PRD7	CEMP1_HUMAN	D	36	ENSP00000371787:G36D	ENSP00000371787:G36D	G	-	2	0	CEMP1	2520969	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.036000	0.13819	-1.512000	0.01791	0.561000	0.74099	GGC		0.632	CEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435686.1	NM_001048212		T	2580968	C	T	2580968	3	4	734	1	0	0	0	0	1	0	0	0	3226	739	26	2	640	2	CEMP1	16	2580968	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	298784	2580968	87773785	780	42199											
ZNF263	10127	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	16	3334016	3334016	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:3334016C>T	ENST00000219069.5	+	1	1074	c.198C>T	c.(196-198)tgC>tgT	p.C66C	ZNF263_ENST00000573578.1_Silent_p.C66C|ZNF263_ENST00000538765.1_Intron|ZNF263_ENST00000574253.1_Silent_p.C66C	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN	zinc finger protein 263	66	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|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)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						AAGAGCTTTGCCATGGGTGGC	0.632																																																0													54	59	57					16																	3334016		2197	4300	6497	SO:0001819	synonymous_variant	10127			AC004232	CCDS10499.1	16p13.3	2013-01-09			ENSG00000006194	ENSG00000006194		"Zinc fingers, C2H2-type", "-", "-", "-"	13056	protein-coding gene	gene with protein product		604191				9256059	Standard	NM_005741		Approved	FPM315, ZKSCAN12, ZSCAN44	uc002cuq.3	O14978	OTTHUMG00000129323	ENST00000219069.5:c.198C>T	16.37:g.3334016C>T			B2R634|O43387|Q96H95	Silent	SNP	ENST00000219069.5	37	CCDS10499.1																																																																																				0.632	ZNF263-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251463.2			T	3334016	C	T	3334016	2	4	734	1	0	0	0	0	0	0	0	1	17808	747	26	2		2	ZNF263	16	3334016	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	753048	3334016	87020737	781	42200											
PPL	5493	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	16	4934370	4934370	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:4934370G>A	ENST00000345988.2	-	22	4375	c.4286C>T	c.(4285-4287)gCg>gTg	p.A1429V	PPL_ENST00000590782.2_Missense_Mutation_p.A1427V	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1429					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						CTGCTCCAGCGCTGCCAGCCG	0.687																																																0													53	55	55					16																	4934370		2161	4247	6408	SO:0001583	missense	5493			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.4286C>T	16.37:g.4934370G>A	ENSP00000340510:p.Ala1429Val		O60314|O60454|Q14C98	Missense_Mutation	SNP	ENST00000345988.2	37	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	G	5.476	0.272799	0.10349	.	.	ENSG00000118898	ENST00000345988	T	0.36340	1.26	5.44	-2.13	0.07144	.	0.684498	0.14258	N	0.330964	T	0.22166	0.0534	L	0.29908	0.895	0.09310	N	0.999996	B	0.09022	0.002	B	0.04013	0.001	T	0.12941	-1.0528	10	0.56958	D	0.05	.	7.0929	0.25293	0.3621:0.0:0.1348:0.5031	.	1429	O60437	PEPL_HUMAN	V	1429	ENSP00000340510:A1429V	ENSP00000340510:A1429V	A	-	2	0	PPL	4874371	0.097000	0.21791	0.000000	0.03702	0.075000	0.17131	0.914000	0.28624	-0.697000	0.05092	-0.948000	0.02665	GCG		0.687	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		A	4934370	G	A	4934370	3	1	734	1	0	0	0	0	1	0	0	0	12339	1087	38	1	988	1	PPL	16	4934370	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1600354	4934370	85420383	782	42201											
PPL	5493	broad.mit.edu;mdanderson.org	37	16	4940317	4940317	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:4940317G>A	ENST00000345988.2	-	18	2270	c.2181C>T	c.(2179-2181)agC>agT	p.S727S	PPL_ENST00000590782.2_Silent_p.S725S	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	727					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						CTGCCTTGGCGCTCTGTAGGC	0.567																																																0													92	75	81					16																	4940317		2197	4300	6497	SO:0001819	synonymous_variant	5493			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.2181C>T	16.37:g.4940317G>A			O60314|O60454|Q14C98	Silent	SNP	ENST00000345988.2	37	CCDS10526.1																																																																																				0.567	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		A	4940317	G	A	4940317	2	1	734	1	0	0	0	0	0	0	0	1	12339	1078	38	1		1	PPL	16	4940317	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	5947	4940317	85414436	783	42202											
ALG1	56052	mdanderson.org	37	16	5129069	5129069	+	Silent	SNP	C	C	T	rs144029725	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:5129069C>T	ENST00000262374.5	+	8	898	c.867C>T	c.(865-867)gaC>gaT	p.D289D	ALG1_ENST00000544428.1_Silent_p.D178D|ALG1_ENST00000588623.1_Silent_p.D178D	NM_019109.4	NP_061982.3	Q9BT22	ALG1_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	289					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipopolysaccharide biosynthetic process (GO:0009103)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|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)	chitobiosyldiphosphodolichol beta-mannosyltransferase activity (GO:0004578)|mannosyltransferase activity (GO:0000030)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(90;0.0164)				TCATAGAGGACGAAGACTTCT	0.567													C|||	11	0.00219649	0.0076	0.0014	5008	,	,		18008	0.0		0.0	False		,,,				2504	0.0															0								C		21,2761		0,21,1370	13	14	13		867	0.7	1	16	dbSNP_134	13	0,4778		0,0,2389	no	coding-synonymous	ALG1	NM_019109.4		0,21,3759	TT,TC,CC		0.0,0.7549,0.2778		289/465	5129069	21,7539	1391	2389	3780	SO:0001819	synonymous_variant	56052			AB019038	CCDS10528.1	16p13.3	2013-02-22	2013-02-22		ENSG00000033011	ENSG00000033011	2.4.1.142	"Glycosyltransferase group 1 domain containing"	18294	protein-coding gene	gene with protein product		605907	"asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase)", "asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae)"			10704531	Standard	NM_019109		Approved	HMT-1, HMAT1	uc002cym.3	Q9BT22	OTTHUMG00000129529	ENST00000262374.5:c.867C>T	16.37:g.5129069C>T			B4DP08|Q6UVZ9|Q8N5Y4|Q9P2Y2	Silent	SNP	ENST00000262374.5	37	CCDS10528.1																																																																																				0.567	ALG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251716.2	NM_019109		T	5129069	C	T	5129069	2	4	734	1	0	0	0	0	0	0	0	1	510	535	19	1		1	ALG1	16	5129069	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	188752	5129069	85225684	784	42203											
C16orf68	79091	broad.mit.edu	37	16	8729031	8729031	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:8729031C>T	ENST00000381920.3	+	5	820	c.562C>T	c.(562-564)Cgg>Tgg	p.R188W	METTL22_ENST00000568967.1_3'UTR|METTL22_ENST00000561758.1_Missense_Mutation_p.R132W	NM_024109.2	NP_077014.2	Q9BUU2	MET22_HUMAN	methyltransferase like 22	188						nucleus (GO:0005634)	methyltransferase activity (GO:0008168)			large_intestine(5)|lung(4)	9						CCAGGTGTGGCGGGGCGCCCT	0.647																																																0													74	77	76					16																	8729031		2107	4230	6337	SO:0001583	missense	79091			AK022495	CCDS10533.2	16p13.2	2014-07-15	2011-03-03	2011-03-03	ENSG00000067365	ENSG00000067365			28368	protein-coding gene	gene with protein product		615261	"chromosome 16 open reading frame 68"	C16orf68		24140279	Standard	XM_005255570		Approved	FLJ12433,MGC2654	uc002cyz.3	Q9BUU2	OTTHUMG00000129694	ENST00000381920.3:c.562C>T	16.37:g.8729031C>T	ENSP00000371345:p.Arg188Trp		B2RD29|D3DUF2|Q6XYB4|Q9HA03	Missense_Mutation	SNP	ENST00000381920.3	37	CCDS10533.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.90|19.90	3.912727|3.912727	0.72983|0.72983	.|.	.|.	ENSG00000067365|ENSG00000067365	ENST00000163678|ENST00000381920	T|T	0.50813|0.06768	0.73|3.26	4.69|4.69	3.67|3.67	0.42095|0.42095	.|.	.|0.229248	.|0.35970	.|N	.|0.002876	T|T	0.30854|0.30854	0.0778|0.0778	M|M	0.85630|0.85630	2.765|2.765	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.80764	.|0.994	T|T	0.14896|0.14896	-1.0456|-1.0456	7|10	0.66056|0.72032	D|D	0.02|0.01	-20.7383|-20.7383	13.4424|13.4424	0.61121|0.61121	0.1564:0.8436:0.0:0.0|0.1564:0.8436:0.0:0.0	.|.	.|188	.|Q9BUU2	.|MET22_HUMAN	V|W	174|188	ENSP00000163678:A174V|ENSP00000371345:R188W	ENSP00000163678:A174V|ENSP00000371345:R188W	A|R	+|+	2|1	0|2	METTL22|METTL22	8636532|8636532	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.960000|0.960000	0.62799|0.62799	3.311000|3.311000	0.51919|0.51919	2.324000|2.324000	0.78689|0.78689	0.655000|0.655000	0.94253|0.94253	GCG|CGG		0.647	METTL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251901.1	NM_024109		T	8729031	C	T	8729031	3	4	734	1	0	0	0	0	1	0	0	0	1829	759	27	1	576	1	C16orf68	16	8729031	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	3599962	8729031	81625722	785	42204											
KIAA0430	9665	broad.mit.edu;ucsc.edu;mdanderson.org	37	16	15711251	15711251	+	Silent	SNP	G	G	A	rs533235779	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:15711251G>A	ENST00000396368.3	-	14	3068	c.2862C>T	c.(2860-2862)caC>caT	p.H954H	KIAA0430_ENST00000548025.1_Silent_p.H951H|KIAA0430_ENST00000602337.1_Silent_p.H951H|KIAA0430_ENST00000344181.3_Silent_p.H596H|KIAA0430_ENST00000551742.1_Silent_p.H954H|KIAA0430_ENST00000540441.2_Silent_p.H789H	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	954					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						AGGAGCCGTCGTGTGACTGGG	0.537													G|||	2	0.000399361	0.0	0.0029	5008	,	,		15822	0.0		0.0	False		,,,				2504	0.0															0													55	57	56					16																	15711251		1877	4102	5979	SO:0001819	synonymous_variant	9665			AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29562	protein-coding gene	gene with protein product	"limkain b1", "protein phosphatase 1, regulatory subunit 34", "meiosis arrest female 1"	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.2862C>T	16.37:g.15711251G>A			A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Silent	SNP	ENST00000396368.3	37	CCDS10562.2																																																																																				0.537	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647		A	15711251	G	A	15711251	2	1	734	1	0	0	0	0	0	0	0	1	8179	1136	40	1		1	KIAA0430	16	15711251	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	6982220	15711251	74643502	786	42205											
MYH11	4629	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	16	15818057	15818057	+	Silent	SNP	G	G	A	rs369335485		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:15818057G>A	ENST00000300036.5	-	31	4435	c.4326C>T	c.(4324-4326)ctC>ctT	p.L1442L	NDE1_ENST00000342673.5_Silent_p.T319T|NDE1_ENST00000396354.1_Silent_p.T319T|AF001548.5_ENST00000574212.1_RNA|NDE1_ENST00000571896.1_3'UTR|NDE1_ENST00000396355.1_Silent_p.T319T|MYH11_ENST00000396324.3_Silent_p.L1449L|MYH11_ENST00000576790.2_Silent_p.L1442L|MYH11_ENST00000452625.2_Silent_p.L1449L	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1442					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						GGTTGGACACGAGTTGCCGCT	0.547			T	CBFB	AML																																		Dom	yes		16	16p13.13-p13.12	4629	"myosin, heavy polypeptide 11, smooth muscle"		L	0													87	83	85					16																	15818057		2197	4300	6497	SO:0001819	synonymous_variant	4629			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.4326C>T	16.37:g.15818057G>A			D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Silent	SNP	ENST00000300036.5	37	CCDS10565.1																																																																																				0.547	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		A	15818057	G	A	15818057	2	1	734	1	0	0	0	0	0	0	0	1	10033	1045	37	1		1	MYH11	16	15818057	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	106806	15818057	74536696	787	42206											
ITPRIPL2	162073	hgsc.bcm.edu;ucsc.edu	37	16	19126839	19126839	+	Silent	SNP	A	A	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:19126839A>C	ENST00000381440.3	+	1	1586	c.1056A>C	c.(1054-1056)gcA>gcC	p.A352A	CTD-2349B8.1_ENST00000564808.2_Intron	NM_001034841.3	NP_001030013.1	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 2	352						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						TGAACACAGCACGCCAGGAGC	0.652																																																0													35	40	39					16																	19126839		2196	4300	6496	SO:0001819	synonymous_variant	162073				CCDS32395.1	16p12.3	2011-04-28	2011-04-28		ENSG00000205730	ENSG00000205730			27257	protein-coding gene	gene with protein product			"inositol 1,4,5-triphosphate receptor interacting protein-like 2"				Standard	NM_001034841		Approved	FLJ22994, MGC126798, MGC126800, LOC162073	uc002dfu.4	Q3MIP1		ENST00000381440.3:c.1056A>C	16.37:g.19126839A>C				Silent	SNP	ENST00000381440.3	37	CCDS32395.1																																																																																				0.652	ITPRIPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435827.3	NM_001034841		C	19126839	A	C	19126839	2	2	734	1	0	0	0	0	0	0	0	1	7927	146	6	5		5	ITPRIPL2	16	19126839	Silent	SNP	A	TCGA-KN-8428-01A-11D-2310-10	3308782	19126839	71227914	788	42207											
SYT17	51760	broad.mit.edu;mdanderson.org	37	16	19236099	19236099	+	Silent	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:19236099T>C	ENST00000355377.2	+	7	1565	c.1167T>C	c.(1165-1167)aaT>aaC	p.N389N	SYT17_ENST00000568433.1_Silent_p.N83N|SYT17_ENST00000562034.1_Silent_p.N328N|SYT17_ENST00000568115.1_Silent_p.N328N|SYT17_ENST00000562711.2_Silent_p.N385N	NM_016524.2	NP_057608.2	Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	389	C2 2. {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						CTTTCTACAATGAATCCTTCA	0.448																																																0													126	124	125					16																	19236099		2197	4300	6497	SO:0001819	synonymous_variant	51760				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.1167T>C	16.37:g.19236099T>C			O43330|Q9NZ18	Silent	SNP	ENST00000355377.2	37	CCDS10575.1																																																																																				0.448	SYT17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254286.2	NM_016524		C	19236099	T	C	19236099	2	2	734	1	0	0	0	0	0	0	0	1	15478	1461	51	3		3	SYT17	16	19236099	Silent	SNP	T	TCGA-KN-8428-01A-11D-2310-10	109260	19236099	71118654	789	42208											
UMOD	7369	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	16	20360337	20360337	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:20360337C>T	ENST00000570689.1	-	3	432	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K	UMOD_ENST00000302509.4_Missense_Mutation_p.E96K|UMOD_ENST00000396138.4_Missense_Mutation_p.E145K|UMOD_ENST00000424589.1_Missense_Mutation_p.E129K|UMOD_ENST00000396134.2_Missense_Mutation_p.E129K|UMOD_ENST00000396142.2_Missense_Mutation_p.E96K			P07911	UROM_HUMAN	uromodulin	96	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.		VCPEG -> AASC (in MCKD2). {ECO:0000269|PubMed:14531790}.		cellular defense response (GO:0006968)|chemical homeostasis (GO:0048878)|excretion (GO:0007588)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte cell-cell adhesion (GO:0007159)|metanephric ascending thin limb development (GO:0072218)|metanephric distal convoluted tubule development (GO:0072221)|metanephric thick ascending limb development (GO:0072233)|negative regulation of cell proliferation (GO:0008285)|neutrophil migration (GO:1990266)|regulation of ion homeostasis (GO:2000021)|response to organic substance (GO:0010033)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|primary cilium (GO:0072372)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|IgG binding (GO:0019864)			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CGGAAGCCTTCGGGGCAGACG	0.637																																																0													32	21	25					16																	20360337		2202	4299	6501	SO:0001583	missense	7369			M17778	CCDS10583.1, CCDS61876.1	16p12.3	2008-06-23	2008-06-23		ENSG00000169344	ENSG00000169344			12559	protein-coding gene	gene with protein product	"Tamm-Horsfall glycoprotein", "uromucoid"	191845	"uromodulin (uromucoid, Tamm-Horsfall glycoprotein)"			8382593	Standard	NM_003361		Approved		uc002dha.3	P07911	OTTHUMG00000131488	ENST00000570689.1:c.286G>A	16.37:g.20360337C>T	ENSP00000460548:p.Glu96Lys		B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Missense_Mutation	SNP	ENST00000570689.1	37	CCDS10583.1	.	.	.	.	.	.	.	.	.	.	c	8.398	0.841251	0.16891	.	.	ENSG00000169344	ENST00000396138;ENST00000396134;ENST00000424589;ENST00000302509;ENST00000429954;ENST00000396142	D;D;D;D	0.92348	-3.02;-3.02;-3.02;-3.02	5.45	1.09	0.20402	Growth factor, receptor (1);EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.984329	0.08288	N	0.968839	T	0.80717	0.4676	N	0.25201	0.72	0.09310	N	1	P;P	0.40250	0.709;0.567	B;B	0.28784	0.094;0.065	T	0.68010	-0.5522	10	0.12766	T	0.61	-6.0448	7.0601	0.25121	0.0:0.4396:0.403:0.1574	.	129;96	E9PEA4;P07911	.;UROM_HUMAN	K	96;129;129;96;96;96	ENSP00000379438:E129K;ENSP00000416346:E129K;ENSP00000306279:E96K;ENSP00000379446:E96K	ENSP00000306279:E96K	E	-	1	0	UMOD	20267838	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.211000	0.17474	0.227000	0.20999	-0.313000	0.08912	GAA		0.637	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436862.1			T	20360337	C	T	20360337	3	4	734	1	0	0	0	0	1	0	0	0	16984	893	31	1	1672	1	UMOD	16	20360337	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1124238	20360337	69994416	790	42209											
DCUN1D3	123879	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	16	20873571	20873571	+	Missense_Mutation	SNP	C	C	T	rs368022474		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:20873571C>T	ENST00000324344.4	-	2	575	c.290G>A	c.(289-291)cGc>cAc	p.R97H	ERI2_ENST00000564349.1_Intron|DCUN1D3_ENST00000563934.1_Missense_Mutation_p.R97H	NM_173475.2	NP_775746.1	Q8IWE4	DCNL3_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 3	97	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)		ATCCTTGTAGCGCCTGAACAG	0.542																																																0								C	HIS/ARG	0,4402		0,0,2201	162	144	150		290	5.9	1	16		150	2,8598	2.2+/-6.3	0,2,4298	no	missense	DCUN1D3	NM_173475.2	29	0,2,6499	TT,TC,CC		0.0233,0.0,0.0154	benign	97/305	20873571	2,13000	2201	4300	6501	SO:0001583	missense	123879			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.290G>A	16.37:g.20873571C>T	ENSP00000319482:p.Arg97His		B3KVY4	Missense_Mutation	SNP	ENST00000324344.4	37	CCDS10592.1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.744633	0.69418	0.0	2.33E-4	ENSG00000188215	ENST00000324344	D	0.94092	-3.35	5.92	5.92	0.95590	Domain of unknown function DUF298 (1);	0.090703	0.85682	D	0.000000	D	0.91026	0.7177	L	0.41356	1.27	0.51012	D	0.999909	B	0.21309	0.054	B	0.12837	0.008	D	0.86060	0.1531	10	0.51188	T	0.08	-6.6182	20.3214	0.98679	0.0:1.0:0.0:0.0	.	97	Q8IWE4	DCNL3_HUMAN	H	97	ENSP00000319482:R97H	ENSP00000319482:R97H	R	-	2	0	DCUN1D3	20781072	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.089000	0.71384	2.804000	0.96469	0.655000	0.94253	CGC		0.542	DCUN1D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254415.2	NM_173475		T	20873571	C	T	20873571	3	4	734	1	0	0	0	0	1	0	0	0	4317	768	27	1	632	1	DCUN1D3	16	20873571	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	513234	20873571	69481182	791	42210											
DNAH3	55567	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	16	20996802	20996802	+	Missense_Mutation	SNP	C	C	T	rs200916697		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:20996802C>T	ENST00000261383.3	-	48	7261	c.7262G>A	c.(7261-7263)cGt>cAt	p.R2421H	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2421	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTTCAGGACACGGCAGATCCT	0.552													C|||	1	0.000199681	0.0	0.0	5008	,	,		19647	0.001		0.0	False		,,,				2504	0.0															0													81	70	74					16																	20996802		2201	4300	6501	SO:0001583	missense	55567			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.7262G>A	16.37:g.20996802C>T	ENSP00000261383:p.Arg2421His		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	CCDS10594.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	29.4	4.999055	0.93227	.	.	ENSG00000158486	ENST00000261383	T	0.57273	0.41	5.43	5.43	0.79202	Dynein heavy chain, P-loop containing D4 domain (1);	0.000000	0.64402	D	0.000001	D	0.85699	0.5757	H	0.99454	4.575	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92110	0.5695	10	0.87932	D	0	.	19.2603	0.93966	0.0:1.0:0.0:0.0	.	2421	Q8TD57	DYH3_HUMAN	H	2421	ENSP00000261383:R2421H	ENSP00000261383:R2421H	R	-	2	0	DNAH3	20904303	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	7.783000	0.85696	2.554000	0.86153	0.655000	0.94253	CGT		0.552	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		T	20996802	C	T	20996802	3	4	734	1	0	0	0	0	1	0	0	0	4605	536	19	1	5147	1	DNAH3	16	20996802	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	123231	20996802	69357951	792	42211											
OTOA	146183	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	16	21734300	21734300	+	Splice_Site	SNP	G	G	A	rs148690740		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:21734300G>A	ENST00000286149.4	+	17	1923		c.e17+1		OTOA_ENST00000388957.3_Splice_Site|OTOA_ENST00000388956.4_Splice_Site|OTOA_ENST00000388958.3_Splice_Site			Q7RTW8	OTOAN_HUMAN	otoancorin						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)		CTGCACTCCCGTAAGTGAACA	0.478																																																0								G	,,	1,4395	2.1+/-5.4	0,1,2197	96	81	86		,,	4.8	1	16	dbSNP_134	86	1,8599	1.2+/-3.3	0,1,4299	no	splice-5,splice-5,splice-5	OTOA	NM_001161683.1,NM_144672.3,NM_170664.2	,,	0,2,6496	AA,AG,GG		0.0116,0.0227,0.0154	,,	,,	21734300	2,12994	2198	4300	6498	SO:0001630	splice_region_variant	146183			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.1922+1G>A	16.37:g.21734300G>A			A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Splice_Site	SNP	ENST00000286149.4	37		.	.	.	.	.	.	.	.	.	.	G	20.7	4.037065	0.75617	2.27E-4	1.16E-4	ENSG00000155719	ENST00000388958;ENST00000286149;ENST00000388956;ENST00000388957	.	.	.	4.77	4.77	0.60923	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6549	0.77126	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	OTOA	21641801	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.715000	0.68430	2.353000	0.79882	0.655000	0.94253	.		0.478	OTOA-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000430021.1		Intron	A	21734300	G	A	21734300	5	1	734	1	0	0	0	0	0	0	1	0	11304	1159	40	1	1993	1	OTOA	16	21734300	Splice_Site	SNP	G	TCGA-KN-8428-01A-11D-2310-10	737498	21734300	68620453	793	42212											
UQCRC2	7385	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	16	21968871	21968871	+	Missense_Mutation	SNP	G	G	A	rs371099781		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:21968871G>A	ENST00000268379.4	+	3	1015	c.251G>A	c.(250-252)cGt>cAt	p.R84H	UQCRC2_ENST00000561553.1_Missense_Mutation_p.R84H	NM_003366.2	NP_003357.2	P22695	QCR2_HUMAN	ubiquinol-cytochrome c reductase core protein II	84					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)		CATTTGCTGCGTCTTACATCC	0.388																																					Colon(123;450 1645 12841 25393 45623)											0								G	HIS/ARG	0,4396		0,0,2198	175	151	159		251	5.2	1	16		159	1,8599	1.2+/-3.3	0,1,4299	no	missense	UQCRC2	NM_003366.2	29	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	84/454	21968871	1,12995	2198	4300	6498	SO:0001583	missense	7385			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.251G>A	16.37:g.21968871G>A	ENSP00000268379:p.Arg84His		B3KSN4|Q9BQ05	Missense_Mutation	SNP	ENST00000268379.4	37	CCDS10601.1	.	.	.	.	.	.	.	.	.	.	G	18.48	3.633627	0.67015	0.0	1.16E-4	ENSG00000140740	ENST00000268379	T	0.17691	2.26	5.19	5.19	0.71726	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);Peptidase M16, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.41926	0.1180	M	0.73217	2.22	0.80722	D	1	D	0.76494	0.999	D	0.66979	0.948	T	0.31447	-0.9943	10	0.87932	D	0	-9.502	17.6661	0.88203	0.0:0.0:1.0:0.0	.	84	P22695	QCR2_HUMAN	H	84	ENSP00000268379:R84H	ENSP00000268379:R84H	R	+	2	0	UQCRC2	21876372	1.000000	0.71417	1.000000	0.80357	0.626000	0.37791	9.322000	0.96357	2.569000	0.86673	0.655000	0.94253	CGT		0.388	UQCRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254466.1	NM_003366		A	21968871	G	A	21968871	3	1	734	1	0	0	0	0	1	0	0	0	17025	1145	40	1	261	1	UQCRC2	16	21968871	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	234571	21968871	68385882	794	42213											
ERN2	5347	mdanderson.org	37	16	23702743	23702743	+	IGR	SNP	C	C	T	rs144279415	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:23702743C>T	ENST00000300093.4	+	0	2227				ERN2_ENST00000457008.2_Missense_Mutation_p.V742I|ERN2_ENST00000256797.4_Missense_Mutation_p.V842I	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)		CAGTCACTGACGTCCTGGGGC	0.622													C|||	2	0.000399361	0.0015	0.0	5008	,	,		17344	0.0		0.0	False		,,,				2504	0.0				Colon(12;240 564 27038 33155)											0								C	ILE/VAL	2,4392	4.2+/-10.8	0,2,2195	19	21	20		2524	4.7	0.9	16	dbSNP_134	20	0,8600		0,0,4300	yes	missense	ERN2	NM_033266.3	29	0,2,6495	TT,TC,CC		0.0,0.0455,0.0154	probably-damaging	842/975	23702743	2,12992	2197	4300	6497	SO:0001628	intergenic_variant	10595				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.23702743C>T			Q15153|Q99746	Missense_Mutation	SNP	ENST00000300093.4	37	CCDS10616.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	18.31	3.595516	0.66219	4.55E-4	0.0	ENSG00000134398	ENST00000256797;ENST00000457008	T;T	0.35973	1.28;1.28	5.68	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.62282	0.2415	M	0.85373	2.75	0.58432	D	0.999997	B;D	0.89917	0.161;1.0	B;D	0.77557	0.018;0.99	T	0.67189	-0.5733	10	0.54805	T	0.06	.	12.4641	0.55749	0.0:0.9188:0.0:0.0812	.	742;794	E7ETG2;A5YM65	.;.	I	842;742	ENSP00000256797:V842I;ENSP00000413812:V742I	ENSP00000256797:V842I	V	-	1	0	ERN2	23610244	1.000000	0.71417	0.888000	0.34837	0.437000	0.31866	4.598000	0.61069	1.410000	0.46936	0.563000	0.77884	GTC		0.622	PLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214057.2	NM_005030		T	23702743	C	T	23702743	1	4	734	0	1	0	0	0	0	0	0	0	5240	536	19	1		1	ERN2	16	23702743	IGR	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1733872	23702743	66652010	795	42214											
CHP2	63928	broad.mit.edu	37	16	23767738	23767738	+	Missense_Mutation	SNP	G	G	A	rs79455352	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:23767738G>A	ENST00000300113.2	+	5	805	c.382G>A	c.(382-384)Gat>Aat	p.D128N		NM_022097.2	NP_071380.1	O43745	CHP2_HUMAN	calcineurin-like EF-hand protein 2	128	EF-hand 3. {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)	p.D128Y(1)		central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9				GBM - Glioblastoma multiforme(48;0.0144)		CCTGGATCGCGATGGGAAGAT	0.537																																																1	Substitution - Missense(1)	stomach(1)											86	69	75					16																	23767738		2197	4300	6497	SO:0001583	missense	63928				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.382G>A	16.37:g.23767738G>A	ENSP00000300113:p.Asp128Asn		A8K2I8	Missense_Mutation	SNP	ENST00000300113.2	37	CCDS10617.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.211780	0.58452	.	.	ENSG00000166869	ENST00000300113	T	0.79352	-1.26	3.82	3.82	0.43975	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.68293	0.2985	N	0.21324	0.655	0.58432	D	0.999999	D	0.58268	0.982	P	0.46237	0.508	T	0.69529	-0.5121	10	0.36615	T	0.2	-17.3968	14.0131	0.64509	0.0:0.0:1.0:0.0	.	128	O43745	CHP2_HUMAN	N	128	ENSP00000300113:D128N	ENSP00000300113:D128N	D	+	1	0	AC130454.2	23675239	1.000000	0.71417	0.942000	0.38095	0.291000	0.27294	8.034000	0.88864	2.414000	0.81942	0.591000	0.81541	GAT		0.537	CHP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254498.1	NM_022097		A	23767738	G	A	23767738	3	1	734	1	0	0	0	0	1	0	0	0	3369	1058	37	1	400	1	CHP2	16	23767738	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	64995	23767738	66587015	796	42215											
PRKCB	5579	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	16	23999859	23999859	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:23999859A>G	ENST00000321728.7	+	3	411	c.236A>G	c.(235-237)cAt>cGt	p.H79R	PRKCB_ENST00000303531.7_Missense_Mutation_p.H79R	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	79					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)	AAGCGGTGCCATGAATTTGTC	0.517																																																0													147	130	135					16																	23999859		2197	4300	6497	SO:0001583	missense	5579			M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"protein kinase C, beta 1"	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.236A>G	16.37:g.23999859A>G	ENSP00000318315:p.His79Arg		C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	ENST00000321728.7	37	CCDS10618.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.522160	0.85600	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	D;D	0.93366	-3.21;-3.21	5.58	5.58	0.84498	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.000000	0.85682	D	0.000000	D	0.96153	0.8746	M	0.75615	2.305	0.80722	D	1	D;D	0.71674	0.995;0.998	D;D	0.79784	0.98;0.993	D	0.96355	0.9261	10	0.62326	D	0.03	.	13.6966	0.62582	1.0:0.0:0.0:0.0	.	79;79	P05771-2;P05771	.;KPCB_HUMAN	R	79	ENSP00000318315:H79R;ENSP00000305355:H79R	ENSP00000305355:H79R	H	+	2	0	PRKCB	23907360	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.493000	0.90474	2.122000	0.65172	0.459000	0.35465	CAT		0.517	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535		G	23999859	A	G	23999859	3	3	734	1	0	0	0	0	1	0	0	0	12513	217	8	3	246	3	PRKCB	16	23999859	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	232121	23999859	66354894	797	42216											
SULT1A2	6799	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	16	28603675	28603675	+	Silent	SNP	C	C	T	rs141569114	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:28603675C>T	ENST00000395630.1	-	7	1034	c.684G>A	c.(682-684)tcG>tcA	p.S228S	SULT1A2_ENST00000533150.1_Silent_p.S195S|SULT1A2_ENST00000335715.4_Silent_p.S228S	NM_177528.2	NP_803564	P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2	228					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						TCTCCTTGAACGACGTGTGCT	0.552													.|||	3	0.000599042	0.0015	0.0	5008	,	,		19209	0.0		0.0	False		,,,				2504	0.001															0								C	,	1,4393	2.1+/-5.4	0,1,2196	215	187	197		684,684	-10	0.1	16	dbSNP_134	197	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SULT1A2	NM_001054.3,NM_177528.2	,	0,1,6496	TT,TC,CC		0.0,0.0228,0.0077	,	228/296,228/296	28603675	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	6799			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.684G>A	16.37:g.28603675C>T			A9QY25|P78393|Q14CJ7	Silent	SNP	ENST00000395630.1	37	CCDS10636.1																																																																																				0.552	SULT1A2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109415.2	NM_001054		T	28603675	C	T	28603675	2	4	734	1	0	0	0	0	0	0	0	1	15378	523	19	1		1	SULT1A2	16	28603675	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	4603816	28603675	61751078	798	42217											
ASPHD1	253982	broad.mit.edu	37	16	29917204	29917204	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:29917204G>A	ENST00000308748.5	+	3	1411	c.1159G>A	c.(1159-1161)Gcc>Acc	p.A387T	ASPHD1_ENST00000483405.1_Missense_Mutation_p.A106T	NM_181718.3	NP_859069.2	Q5U4P2	ASPH1_HUMAN	aspartate beta-hydroxylase domain containing 1	387					peptidyl-amino acid modification (GO:0018193)	integral component of membrane (GO:0016021)	dioxygenase activity (GO:0051213)			endometrium(4)|large_intestine(2)|lung(1)|prostate(1)	8						CTTTGTCTTCGCCCCAGACCC	0.632																																																0													49	42	45					16																	29917204		2197	4300	6497	SO:0001583	missense	253982			AF070642	CCDS10660.1	16p11.2	2008-02-05			ENSG00000174939	ENSG00000174939			27380	protein-coding gene	gene with protein product							Standard	NM_181718		Approved		uc002dut.3	Q5U4P2	OTTHUMG00000132121	ENST00000308748.5:c.1159G>A	16.37:g.29917204G>A	ENSP00000311447:p.Ala387Thr		A0AVE3|B7ZLZ3|Q8IW63|Q8N316|Q96H00	Missense_Mutation	SNP	ENST00000308748.5	37	CCDS10660.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.441667	0.63067	.	.	ENSG00000174939	ENST00000414952;ENST00000308748	T;T	0.47177	0.85;0.85	5.76	3.81	0.43845	.	0.245036	0.35291	N	0.003313	T	0.24812	0.0602	N	0.05351	-0.065	0.80722	D	1	P	0.36587	0.559	B	0.29524	0.103	T	0.09335	-1.0679	10	0.52906	T	0.07	-4.2254	11.6302	0.51168	0.1466:0.0:0.8534:0.0	.	387	Q5U4P2	ASPH1_HUMAN	T	387	ENSP00000388036:A387T;ENSP00000311447:A387T	ENSP00000311447:A387T	A	+	1	0	ASPHD1	29824705	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	3.176000	0.50863	0.794000	0.33899	-0.140000	0.14226	GCC		0.632	ASPHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255163.2	NM_181718		A	29917204	G	A	29917204	3	1	734	1	0	0	0	0	1	0	0	0	1054	1087	38	1	1169	1	ASPHD1	16	29917204	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1313529	29917204	60437549	799	42218											
TBX6	6911	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	16	30097724	30097724	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:30097724C>T	ENST00000395224.2	-	9	1192	c.1133G>A	c.(1132-1134)cGc>cAc	p.R378H	TBX6_ENST00000279386.2_Missense_Mutation_p.R378H	NM_004608.3	NP_004599.2	O95947	TBX6_HUMAN	T-box 6	378					anatomical structure morphogenesis (GO:0009653)|cell fate specification (GO:0001708)|mesoderm development (GO:0007498)|mesoderm formation (GO:0001707)|negative regulation of neuron maturation (GO:0014043)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|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)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						GGGGGCTGAGCGCCCGGAGTC	0.697																																																0													6	8	8					16																	30097724		2104	4124	6228	SO:0001583	missense	6911			AJ007989	CCDS10670.1	16p11.2	2008-02-05			ENSG00000149922	ENSG00000149922		"T-boxes"	11605	protein-coding gene	gene with protein product		602427				9888994, 9933572	Standard	NM_004608		Approved		uc010veh.2	O95947	OTTHUMG00000132115	ENST00000395224.2:c.1133G>A	16.37:g.30097724C>T	ENSP00000378650:p.Arg378His		Q8TAS4|Q9HA44	Missense_Mutation	SNP	ENST00000395224.2	37	CCDS10670.1	.	.	.	.	.	.	.	.	.	.	C	9.618	1.133005	0.21041	.	.	ENSG00000149922	ENST00000395224;ENST00000279386	D;D	0.87256	-2.23;-2.23	5.25	2.23	0.28157	.	1.998930	0.02243	N	0.065938	T	0.78966	0.4367	N	0.19112	0.55	0.27721	N	0.945124	B	0.06786	0.001	B	0.04013	0.001	T	0.63825	-0.6549	10	0.46703	T	0.11	.	4.3271	0.11045	0.1582:0.5904:0.0:0.2514	.	378	O95947	TBX6_HUMAN	H	378	ENSP00000378650:R378H;ENSP00000279386:R378H	ENSP00000279386:R378H	R	-	2	0	TBX6	30005225	0.898000	0.30612	0.980000	0.43619	0.289000	0.27227	0.761000	0.26489	0.231000	0.21079	-0.300000	0.09419	CGC		0.697	TBX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255157.2	NM_004608, NM_080758		T	30097724	C	T	30097724	3	4	734	1	0	0	0	0	1	0	0	0	15667	768	27	1	181	1	TBX6	16	30097724	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	180520	30097724	60257029	800	42219											
SRCAP	10847	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	16	30748499	30748499	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:30748499C>T	ENST00000262518.4	+	34	7523	c.7138C>T	c.(7138-7140)Cgg>Tgg	p.R2380W	SRCAP_ENST00000395059.2_Missense_Mutation_p.R2318W|SRCAP_ENST00000344771.4_Missense_Mutation_p.R2222W	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2380					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.R2380W(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)			AGGCACCCACCGGCGCAGTAA	0.652																																																1	Substitution - Missense(1)	large_intestine(1)											39	43	42					16																	30748499		2197	4300	6497	SO:0001583	missense	10847			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.7138C>T	16.37:g.30748499C>T	ENSP00000262518:p.Arg2380Trp		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	C	14.98	2.697016	0.48202	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.93366	-3.13;-3.19;-3.21	4.8	4.8	0.61643	.	0.000000	0.42682	D	0.000670	D	0.92450	0.7603	N	0.08118	0	0.33581	D	0.599891	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.981	D	0.95121	0.8246	10	0.72032	D	0.01	-1.144	16.865	0.86027	0.0:1.0:0.0:0.0	.	2318;2380	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	W	2380;2318;2222	ENSP00000262518:R2380W;ENSP00000378499:R2318W;ENSP00000343042:R2222W	ENSP00000262518:R2380W	R	+	1	2	SRCAP	30656000	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	2.762000	0.47597	2.513000	0.84729	0.558000	0.71614	CGG		0.652	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		T	30748499	C	T	30748499	3	4	734	1	0	0	0	0	1	0	0	0	15140	643	23	1	7264	1	SRCAP	16	30748499	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	650775	30748499	59606254	801	42220											
RNF40	9810	broad.mit.edu;mdanderson.org;bcgsc.ca	37	16	30777565	30777565	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:30777565G>A	ENST00000324685.6	+	9	1510	c.1075G>A	c.(1075-1077)Gaa>Aaa	p.E359K	RNF40_ENST00000563683.1_Intron|RNF40_ENST00000357890.5_Intron|RNF40_ENST00000402121.3_Intron	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	359					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			ACTGCAGGCCGAACTTCAGGG	0.587																																																0													72	81	78					16																	30777565		2197	4300	6497	SO:0001583	missense	9810			AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"RING-type (C3HC4) zinc fingers"	16867	protein-coding gene	gene with protein product	"BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"	607700	"ring finger protein 40"			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.1075G>A	16.37:g.30777565G>A	ENSP00000325677:p.Glu359Lys		Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Missense_Mutation	SNP	ENST00000324685.6	37	CCDS10691.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.798379	0.90538	.	.	ENSG00000103549	ENST00000324685;ENST00000452273	T	0.27720	1.65	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.42854	0.1221	L	0.47716	1.5	0.80722	D	1	D;D	0.76494	0.995;0.999	P;P	0.58520	0.738;0.84	T	0.06716	-1.0811	10	0.09843	T	0.71	-4.4002	18.8306	0.92137	0.0:0.0:1.0:0.0	.	359;359	A8K6K1;O75150	.;BRE1B_HUMAN	K	359;208	ENSP00000325677:E359K	ENSP00000325677:E359K	E	+	1	0	RNF40	30685066	1.000000	0.71417	0.921000	0.36526	0.956000	0.61745	8.988000	0.93501	2.747000	0.94245	0.462000	0.41574	GAA		0.587	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255524.2	NM_014771		A	30777565	G	A	30777565	3	1	734	1	0	0	0	0	1	0	0	0	13499	1059	37	1	1105	1	RNF40	16	30777565	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	29066	30777565	59577188	802	42221											
ZNF646	9726	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	16	31090347	31090347	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:31090347G>A	ENST00000394979.2	+	1	3125	c.2702G>A	c.(2701-2703)cGc>cAc	p.R901H	ZNF646_ENST00000300850.5_Missense_Mutation_p.R901H			O15015	ZN646_HUMAN	zinc finger protein 646	901					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						CTTCACCGGCGCCAGGCCCAC	0.652																																																0													25	28	27					16																	31090347		2197	4299	6496	SO:0001583	missense	9726			AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"Zinc fingers, C2H2-type"	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.2702G>A	16.37:g.31090347G>A	ENSP00000378429:p.Arg901His		Q8IVD8	Missense_Mutation	SNP	ENST00000394979.2	37		.	.	.	.	.	.	.	.	.	.	G	18.78	3.696206	0.68386	.	.	ENSG00000167395	ENST00000300850;ENST00000394979	T;T	0.33865	1.39;1.39	5.25	4.28	0.50868	.	.	.	.	.	T	0.24890	0.0604	L	0.29908	0.895	0.38415	D	0.946034	B	0.24651	0.108	B	0.18871	0.023	T	0.11084	-1.0602	9	0.59425	D	0.04	-13.1981	7.6144	0.28150	0.2539:0.0:0.7461:0.0	.	901	O15015-2	.	H	901	ENSP00000300850:R901H;ENSP00000378429:R901H	ENSP00000300850:R901H	R	+	2	0	ZNF646	30997848	0.018000	0.18449	1.000000	0.80357	0.978000	0.69477	0.214000	0.17541	1.188000	0.43014	0.563000	0.77884	CGC		0.652	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		A	31090347	G	A	31090347	3	1	734	1	0	0	0	0	1	0	0	0	18067	1087	38	1	2704	1	ZNF646	16	31090347	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	312782	31090347	59264406	803	42222											
ZNF423	23090	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	16	49671194	49671194	+	Silent	SNP	G	G	A	rs151294188	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:49671194G>A	ENST00000561648.1	-	4	1922	c.1869C>T	c.(1867-1869)agC>agT	p.S623S	ZNF423_ENST00000535559.1_Silent_p.S506S|ZNF423_ENST00000562871.1_Silent_p.S563S|ZNF423_ENST00000562520.1_Silent_p.S563S|ZNF423_ENST00000563137.2_Silent_p.S563S|ZNF423_ENST00000567169.1_Silent_p.S506S|ZNF423_ENST00000262383.2_Silent_p.S623S	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	623					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)				TGGAGTTGGCGCTTGCTGAGA	0.577																																																0								G		1,4395	2.1+/-5.4	0,1,2197	81	72	75		1869	-8.6	0	16	dbSNP_134	75	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZNF423	NM_015069.2		0,2,6496	AA,AG,GG		0.0116,0.0227,0.0154		623/1285	49671194	2,12994	2198	4300	6498	SO:0001819	synonymous_variant	23090			AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"Zinc fingers, C2H2-type"	16762	protein-coding gene	gene with protein product	"OLF-1/EBF associated zinc finger gene", " Smad- and Olf-interacting zinc finger protein", "early B-cell factor associated zinc finger protein"	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.1869C>T	16.37:g.49671194G>A			O94860|Q76N04|Q9NZ13	Silent	SNP	ENST00000561648.1	37	CCDS32445.1																																																																																				0.577	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		A	49671194	G	A	49671194	2	1	734	1	0	0	0	0	0	0	0	1	17903	1078	38	1		1	ZNF423	16	49671194	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	18580847	49671194	40683559	804	42223											
SALL1	6299	broad.mit.edu	37	16	51173805	51173805	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:51173805C>T	ENST00000251020.4	-	2	2361	c.2328G>A	c.(2326-2328)acG>acA	p.T776T	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000440970.1_Silent_p.T679T	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	776					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)	p.T776T(1)		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)			CCACAGCGTTCGTGAACTTCT	0.557																																					GBM(103;1352 1446 1855 4775 8890)											1	Substitution - coding silent(1)	large_intestine(1)											90	93	92					16																	51173805		2198	4300	6498	SO:0001819	synonymous_variant	6299			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.2328G>A	16.37:g.51173805C>T			Q99881|Q9NSC3|Q9P1R0	Silent	SNP	ENST00000251020.4	37	CCDS10747.1																																																																																				0.557	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		T	51173805	C	T	51173805	2	4	734	1	0	0	0	0	0	0	0	1	13816	871	31	1		1	SALL1	16	51173805	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1502611	51173805	39180948	805	42224											
IRX6	79190	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	16	55360358	55360358	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:55360358C>T	ENST00000290552.7	+	2	1488	c.156C>T	c.(154-156)taC>taT	p.Y52Y	RP11-26L20.3_ENST00000558730.2_RNA|IRX6_ENST00000558315.1_3'UTR	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	52					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						GCGCACCCTACGATAGTCGAC	0.652																																																0													36	33	34					16																	55360358		2198	4300	6498	SO:0001819	synonymous_variant	79190			AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"Homeoboxes / TALE class"	14675	protein-coding gene	gene with protein product		606196	"iroquois homeobox protein 7", "iroquois homeobox protein 6"	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.156C>T	16.37:g.55360358C>T			B2RN06|Q7Z2K0	Silent	SNP	ENST00000290552.7	37	CCDS32449.1																																																																																				0.652	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417445.4	NM_024335		T	55360358	C	T	55360358	2	4	734	1	0	0	0	0	0	0	0	1	7850	547	19	1		1	IRX6	16	55360358	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	4186553	55360358	34994395	806	42225											
SLC6A2	6530	broad.mit.edu;ucsc.edu;mdanderson.org	37	16	55690630	55690630	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:55690630G>A	ENST00000379906.2	+	1	279	c.24G>A	c.(22-24)ccG>ccA	p.P8P	SLC6A2_ENST00000566163.1_Silent_p.P8P|SLC6A2_ENST00000561820.1_Silent_p.P8P|SLC6A2_ENST00000219833.8_Silent_p.P8P|SLC6A2_ENST00000568943.1_Silent_p.P8P|SLC6A2_ENST00000414754.3_Silent_p.P8P	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	8					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)	GGATGAACCCGCAGGTGCAGC	0.652																																																0													28	32	31					16																	55690630		2196	4295	6491	SO:0001819	synonymous_variant	6530				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.24G>A	16.37:g.55690630G>A			B2R707|B4DX48|Q96KH8	Silent	SNP	ENST00000379906.2	37	CCDS10754.1																																																																																				0.652	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256922.2			A	55690630	G	A	55690630	2	1	734	1	0	0	0	0	0	0	0	1	14689	1074	38	1		1	SLC6A2	16	55690630	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	330272	55690630	34664123	807	42226											
FAM192A	80011	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	16	57188284	57188284	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:57188284G>A	ENST00000309137.8	-	7	941	c.683C>T	c.(682-684)tCa>tTa	p.S228L	FAM192A_ENST00000567439.1_Missense_Mutation_p.S228L|FAM192A_ENST00000566077.1_Missense_Mutation_p.S151L|FAM192A_ENST00000564108.1_Missense_Mutation_p.S228L|FAM192A_ENST00000389447.5_Missense_Mutation_p.S228L|FAM192A_ENST00000569266.1_Missense_Mutation_p.S228L	NM_024946.2	NP_079222.1	Q9GZU8	F192A_HUMAN	family with sequence similarity 192, member A	228						nucleus (GO:0005634)				endometrium(2)|large_intestine(3)|lung(4)|prostate(2)	11						TTCGCTGTCTGAGCTGGACTC	0.597																																																0													58	68	65					16																	57188284		2041	4200	6241	SO:0001583	missense	80011				CCDS42168.1	16q13	2009-08-19	2009-08-19	2009-08-19		ENSG00000172775			29856	protein-coding gene	gene with protein product	"NEFA interacting nuclear protein NIP30"		"chromosome 16 open reading frame 94"	C16orf94		12477932	Standard	NM_024946		Approved	NIP30	uc021tiy.1	Q9GZU8		ENST00000309137.8:c.683C>T	16.37:g.57188284G>A	ENSP00000335808:p.Ser228Leu			Missense_Mutation	SNP	ENST00000309137.8	37	CCDS42168.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.782533	0.70222	.	.	ENSG00000172775	ENST00000309137;ENST00000389447	.	.	.	5.25	5.25	0.73442	.	0.436913	0.24854	N	0.035075	T	0.59797	0.2220	L	0.42245	1.32	0.58432	D	0.999996	B	0.21821	0.061	B	0.24848	0.056	T	0.58736	-0.7584	9	0.72032	D	0.01	-0.3098	19.0487	0.93032	0.0:0.0:1.0:0.0	.	228	Q9GZU8	F192A_HUMAN	L	228	.	ENSP00000335808:S228L	S	-	2	0	FAM192A	55745785	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.800000	0.62524	2.724000	0.93272	0.563000	0.77884	TCA		0.597	FAM192A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433022.2	NM_024946		A	57188284	G	A	57188284	3	1	734	1	0	0	0	0	1	0	0	0	5525	1294	45	2	85	2	FAM192A	16	57188284	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1497654	57188284	33166469	808	42227											
SLC12A4	6560	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	16	67980419	67980419	+	Missense_Mutation	SNP	G	G	A	rs370220716		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:67980419G>A	ENST00000316341.3	-	18	2499	c.2359C>T	c.(2359-2361)Cgg>Tgg	p.R787W	SLC12A4_ENST00000572037.1_Missense_Mutation_p.R739W|LCAT_ENST00000264005.5_5'Flank|CTC-479C5.17_ENST00000590594.1_lincRNA|SLC12A4_ENST00000338335.3_Intron|SLC12A4_ENST00000576616.1_Missense_Mutation_p.R787W|SLC12A4_ENST00000422611.2_Missense_Mutation_p.R789W|SLC12A4_ENST00000537830.2_Missense_Mutation_p.R781W|SLC12A4_ENST00000541864.2_Missense_Mutation_p.R756W	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	787					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)	GAGTTATGCCGCATGCCTCCC	0.652																																																0								G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4396		0,0,2198	56	57	57		2359,2365,2341,2266,2359	2.2	1	16		57	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,missense,missense,missense	SLC12A4	NM_001145961.1,NM_001145962.1,NM_001145963.1,NM_001145964.1,NM_005072.4	101,101,101,101,101	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	787/1080,789/1088,781/1080,756/1055,787/1086	67980419	1,12993	2198	4299	6497	SO:0001583	missense	6560				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.2359C>T	16.37:g.67980419G>A	ENSP00000318557:p.Arg787Trp		B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Missense_Mutation	SNP	ENST00000316341.3	37	CCDS10855.1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.728223	0.69074	0.0	1.16E-4	ENSG00000124067	ENST00000422611;ENST00000541864;ENST00000537830;ENST00000316341	D;D;D;D	0.92595	-3.07;-3.07;-3.07;-3.07	4.57	2.23	0.28157	.	0.048575	0.85682	D	0.000000	D	0.94837	0.8332	M	0.80982	2.52	0.80722	D	1	D;D;D;D;D;D	0.63046	0.989;0.986;0.992;0.992;0.992;0.986	P;P;D;P;P;P	0.63381	0.877;0.582;0.914;0.761;0.828;0.582	D	0.93878	0.7168	10	0.87932	D	0	.	11.329	0.49465	0.0:0.0:0.3051:0.6949	.	789;787;756;781;787;787	F5H3C0;B4DF30;F5H066;F5H0S9;Q9UP95-2;Q9UP95	.;.;.;.;.;S12A4_HUMAN	W	789;756;781;787	ENSP00000395983:R789W;ENSP00000438334:R756W;ENSP00000445962:R781W;ENSP00000318557:R787W	ENSP00000318557:R787W	R	-	1	2	SLC12A4	66537920	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.502000	0.53332	0.220000	0.20860	-0.262000	0.10625	CGG		0.652	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4	NM_005072		A	67980419	G	A	67980419	3	1	734	1	0	0	0	0	1	0	0	0	14391	1086	38	1	926	1	SLC12A4	16	67980419	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	10792135	67980419	22374334	809	42228											
PDPR	55066	broad.mit.edu	37	16	70164360	70164360	+	Missense_Mutation	SNP	T	T	A	rs201953730		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:70164360T>A	ENST00000288050.4	+	7	1599	c.642T>A	c.(640-642)caT>caA	p.H214Q	PDPR_ENST00000568530.1_Missense_Mutation_p.H214Q|PDPR_ENST00000398122.3_Missense_Mutation_p.H114Q	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	214					cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		CTGTTCTTCATGTAATGGTCA	0.448																																																0													147	148	147					16																	70164360		1917	4144	6061	SO:0001583	missense	55066				CCDS45520.1	16q22.1	2010-08-24			ENSG00000090857	ENSG00000090857			30264	protein-coding gene	gene with protein product						9395502	Standard	NM_017990		Approved	PDP3	uc002eyf.1	Q8NCN5		ENST00000288050.4:c.642T>A	16.37:g.70164360T>A	ENSP00000288050:p.His214Gln		A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Missense_Mutation	SNP	ENST00000288050.4	37	CCDS45520.1	6	0.0027472527472527475	0	0.0	3	0.008287292817679558	0	0.0	3	0.00395778364116095	T	12.71	2.019723	0.35606	.	.	ENSG00000090857	ENST00000288050;ENST00000398122	D;D	0.84660	-1.88;-1.88	4.93	-2.98	0.05513	FAD dependent oxidoreductase (1);	0.054244	0.64402	D	0.000001	T	0.62575	0.2439	N	0.16790	0.44	0.80722	D	1	B	0.14438	0.01	B	0.18263	0.021	T	0.41484	-0.9506	10	0.33940	T	0.23	.	10.9854	0.47518	0.0:0.4457:0.0:0.5543	.	214	Q8NCN5	PDPR_HUMAN	Q	214;114	ENSP00000288050:H214Q;ENSP00000381190:H114Q	ENSP00000288050:H214Q	H	+	3	2	PDPR	68721861	0.947000	0.32204	0.893000	0.35052	0.909000	0.53808	0.008000	0.13197	-0.680000	0.05211	-0.479000	0.04858	CAT		0.448	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434502.1	NM_017990		A	70164360	T	A	70164360	3	1	734	1	0	0	0	0	1	0	0	0	11691	1461	51	5	660	5	PDPR	16	70164360	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	2183941	70164360	20190393	810	42229											
TAT	6898	broad.mit.edu	37	16	71602619	71602619	+	Missense_Mutation	SNP	C	C	T	rs137946175	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:71602619C>T	ENST00000355962.4	-	11	1352	c.1219G>A	c.(1219-1221)Gca>Aca	p.A407T	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	407					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|L-phenylalanine catabolic process (GO:0006559)|response to glucocorticoid (GO:0051384)|response to mercury ion (GO:0046689)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|L-tyrosine:2-oxoglutarate aminotransferase activity (GO:0004838)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)	CCCACCGTTGCTGGGAGGCAG	0.498																																					Melanoma(198;542 2142 10292 21661 50033)|Esophageal Squamous(48;487 1013 5572 44395 52594)											0								C	THR/ALA	3,4393	6.2+/-15.9	0,3,2195	62	52	55		1219	5	0.7	16	dbSNP_134	55	0,8600		0,0,4300	yes	missense	TAT	NM_000353.2	58	0,3,6495	TT,TC,CC		0.0,0.0682,0.0231	benign	407/455	71602619	3,12993	2198	4300	6498	SO:0001583	missense	6898				CCDS10903.1	16q22.1	2012-10-02			ENSG00000198650	ENSG00000198650	2.6.1.5		11573	protein-coding gene	gene with protein product		613018					Standard	NM_000353		Approved		uc002fap.2	P17735	OTTHUMG00000137590	ENST00000355962.4:c.1219G>A	16.37:g.71602619C>T	ENSP00000348234:p.Ala407Thr		B2R8I1|D3DWS2	Missense_Mutation	SNP	ENST00000355962.4	37	CCDS10903.1	.	.	.	.	.	.	.	.	.	.	C	34	5.312294	0.95655	6.82E-4	0.0	ENSG00000198650	ENST00000355962	D	0.88354	-2.37	5.93	4.98	0.66077	Tyrosine aminotransferase (1);Aminotransferase, class I/classII (1);Tyrosine/nicotianamine aminotransferase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.194477	0.53938	D	0.000045	D	0.92410	0.7591	M	0.76574	2.34	0.80722	D	1	D	0.55605	0.972	P	0.54060	0.741	D	0.93310	0.6684	10	0.87932	D	0	-0.4645	16.6213	0.84931	0.131:0.869:0.0:0.0	.	407	P17735	ATTY_HUMAN	T	407	ENSP00000348234:A407T	ENSP00000348234:A407T	A	-	1	0	TAT	70160120	1.000000	0.71417	0.715000	0.30552	0.919000	0.55068	7.567000	0.82357	1.517000	0.48917	-0.169000	0.13324	GCA		0.498	TAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268989.1			T	71602619	C	T	71602619	3	4	734	1	0	0	0	0	1	0	0	0	15595	797	28	2	153	2	TAT	16	71602619	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1438259	71602619	18752134	811	42230											
ZFHX3	463	broad.mit.edu	37	16	72822644	72822644	+	Silent	SNP	C	C	T	rs138129897	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:72822644C>T	ENST00000268489.5	-	10	10203	c.9531G>A	c.(9529-9531)tcG>tcA	p.S3177S	ZFHX3_ENST00000397992.5_Silent_p.S2263S|RP5-991G20.1_ENST00000563328.2_RNA|AC004943.1_ENST00000584072.1_RNA|RP5-991G20.4_ENST00000569195.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3177					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)				GGGAGCTCAGCGACGCTGAGG	0.607													C|||	3	0.000599042	0.0	0.0	5008	,	,		14507	0.0		0.0	False		,,,				2504	0.0031															0													73	78	76					16																	72822644		2198	4300	6498	SO:0001819	synonymous_variant	463			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.9531G>A	16.37:g.72822644C>T			D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	CCDS10908.1																																																																																				0.607	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		T	72822644	C	T	72822644	2	4	734	1	0	0	0	0	0	0	0	1	17639	755	27	1		1	ZFHX3	16	72822644	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1220025	72822644	17532109	812	42231											
MON1B	22879	broad.mit.edu	37	16	77228770	77228770	+	Silent	SNP	C	C	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:77228770C>A	ENST00000248248.3	+	4	1364	c.1014C>A	c.(1012-1014)gcC>gcA	p.A338A	MON1B_ENST00000320859.6_Intron|MON1B_ENST00000439557.2_Silent_p.A229A|MON1B_ENST00000545553.1_Silent_p.A192A	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	338										breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						TTTTCTACGCCTACGTGGCCC	0.637																																																0													97	99	98					16																	77228770		2198	4300	6498	SO:0001819	synonymous_variant	22879			BC024277	CCDS10925.1, CCDS67082.1, CCDS67083.1	16q23.1	2013-08-21	2013-08-21		ENSG00000103111	ENSG00000103111			25020	protein-coding gene	gene with protein product		608954	"MON1 homolog B (yeast)"			10048485	Standard	NM_014940		Approved	SAND2, HSRG1, KIAA0872	uc002fez.3	Q7L1V2	OTTHUMG00000137618	ENST00000248248.3:c.1014C>A	16.37:g.77228770C>A			B4DDZ0|O94949	Silent	SNP	ENST00000248248.3	37	CCDS10925.1																																																																																				0.637	MON1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269036.2	NM_014940		A	77228770	C	A	77228770	2	1	734	1	0	0	0	0	0	0	0	1	9701	668	24	4		4	MON1B	16	77228770	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	4406126	77228770	13125983	813	42232											
WFDC1	58189	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	16	84353088	84353088	+	Missense_Mutation	SNP	C	C	T	rs145066295		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:84353088C>T	ENST00000219454.5	+	4	799	c.473C>T	c.(472-474)tCg>tTg	p.S158L	WFDC1_ENST00000568638.1_Missense_Mutation_p.S158L	NM_001282466.1|NM_001282467.1	NP_001269395.1|NP_001269396.1	Q9HC57	WFDC1_HUMAN	WAP four-disulfide core domain 1	158					negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|response to drug (GO:0042493)|response to estradiol (GO:0032355)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.S158L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)	9						CTCTGTCCCTCGGGCTATGAG	0.662													C|||	1	0.000199681	0.0	0.0	5008	,	,		20424	0.001		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	endometrium(1)						C	LEU/SER	1,4399	2.1+/-5.4	0,1,2199	80	62	68		473	4.4	1	16	dbSNP_134	68	1,8599		0,1,4299	no	missense	WFDC1	NM_021197.2	145	0,2,6498	TT,TC,CC		0.0116,0.0227,0.0154	benign	158/221	84353088	2,12998	2200	4300	6500	SO:0001583	missense	58189			AF302109	CCDS10946.1	16q24.1	2013-01-21			ENSG00000103175	ENSG00000103175		"WAP four-disulfide core domain containing"	15466	protein-coding gene	gene with protein product		605322				10967136	Standard	NM_021197		Approved	PS20	uc002fhw.3	Q9HC57	OTTHUMG00000137641	ENST00000219454.5:c.473C>T	16.37:g.84353088C>T	ENSP00000219454:p.Ser158Leu		D3DUL7|Q8NC27|Q9HAU1	Missense_Mutation	SNP	ENST00000219454.5	37	CCDS10946.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.516037	0.64634	2.27E-4	1.16E-4	ENSG00000103175	ENST00000219454	T	0.32753	1.44	4.43	4.43	0.53597	.	0.130447	0.49916	D	0.000127	T	0.21962	0.0529	N	0.24115	0.695	0.45704	D	0.998618	P	0.40083	0.702	B	0.35240	0.198	T	0.10451	-1.0629	10	0.62326	D	0.03	-16.3228	15.7941	0.78394	0.0:1.0:0.0:0.0	.	158	Q9HC57	WFDC1_HUMAN	L	158	ENSP00000219454:S158L	ENSP00000219454:S158L	S	+	2	0	WFDC1	82910589	1.000000	0.71417	0.986000	0.45419	0.725000	0.41563	6.721000	0.74728	2.295000	0.77249	0.555000	0.69702	TCG		0.662	WFDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269083.2			T	84353088	C	T	84353088	3	4	734	1	0	0	0	0	1	0	0	0	17351	893	31	1	487	1	WFDC1	16	84353088	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	7124318	84353088	6001665	814	42233											
USP10	9100	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	16	84778426	84778426	+	Silent	SNP	C	C	T	rs200755558	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:84778426C>T	ENST00000219473.7	+	4	452	c.339C>T	c.(337-339)atC>atT	p.I113I	USP10_ENST00000570191.1_Silent_p.I117I|USP10_ENST00000562743.1_3'UTR	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	113					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						ATGGCTCCATCGACTGCCAGT	0.488													C|||	2	0.000399361	0.0	0.0	5008	,	,		16534	0.002		0.0	False		,,,				2504	0.0															0													70	69	69					16																	84778426		1853	4099	5952	SO:0001819	synonymous_variant	9100			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.339C>T	16.37:g.84778426C>T			B2RDJ8|B4DS84|Q9BWG7|Q9NSL7	Silent	SNP	ENST00000219473.7	37	CCDS45537.1																																																																																				0.488	USP10-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433660.1			T	84778426	C	T	84778426	2	4	734	1	0	0	0	0	0	0	0	1	17046	874	31	1		1	USP10	16	84778426	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	425338	84778426	5576327	815	42234											
ACSF3	197322	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	16	89169104	89169104	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:89169104G>A	ENST00000317447.4	+	4	1136	c.759G>A	c.(757-759)gcG>gcA	p.A253A	ACSF3_ENST00000406948.3_Silent_p.A253A|ACSF3_ENST00000378345.4_De_novo_Start_InFrame	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	253					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)		TGGTCAACGCGCTGCTCTGTC	0.627																																																0													130	93	106					16																	89169104		2198	4300	6498	SO:0001819	synonymous_variant	197322			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.759G>A	16.37:g.89169104G>A			A8K4J8|C9JQL6|Q6INA0|Q8N2F7	Silent	SNP	ENST00000317447.4	37	CCDS10974.1	.	.	.	.	.	.	.	.	.	.	G	3.211	-0.161523	0.06502	.	.	ENSG00000176715	ENST00000543676	.	.	.	5.02	5.02	0.67125	.	0.090843	0.85682	D	0.000000	T	0.74238	0.3690	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73720	-0.3894	5	.	.	.	-30.6413	18.3267	0.90256	0.0:0.0:1.0:0.0	.	.	.	.	T	1	.	.	A	+	1	0	ACSF3	87696605	1.000000	0.71417	1.000000	0.80357	0.025000	0.11179	7.177000	0.77650	2.326000	0.78906	0.467000	0.42956	GCT		0.627	ACSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269919.1	NM_174917		A	89169104	G	A	89169104	2	1	734	1	0	0	0	0	0	0	0	1	176	1074	38	1		1	ACSF3	16	89169104	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	4390678	89169104	1185649	816	42235											
DEF8	54849	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	16	90020686	90020686	+	Missense_Mutation	SNP	G	G	A	rs373457887		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:90020686G>A	ENST00000268676.7	+	3	298	c.209G>A	c.(208-210)cGt>cAt	p.R70H	DEF8_ENST00000563594.1_Missense_Mutation_p.R9H|DEF8_ENST00000563795.1_Missense_Mutation_p.R9H|DEF8_ENST00000418391.2_Missense_Mutation_p.R9H|DEF8_ENST00000567874.1_Intron|DEF8_ENST00000569453.1_Missense_Mutation_p.R9H|DEF8_ENST00000570182.1_Missense_Mutation_p.R9H	NM_207514.2	NP_997397.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)	70					intracellular signal transduction (GO:0035556)		zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		AAGCTGGCCCGTTTCCGGCAG	0.632																																																0								G	HIS/ARG,,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4395	2.1+/-5.4	0,1,2197	74	71	72		26,,26,26,26,26,26,26,209	5.1	1	16		72	0,8600		0,0,4300	no	missense,intron,missense,missense,missense,missense,missense,missense,missense	DEF8	NM_001242816.1,NM_001242817.1,NM_001242818.1,NM_001242819.1,NM_001242820.1,NM_001242821.1,NM_001242822.1,NM_017702.3,NM_207514.2	29,,29,29,29,29,29,29,29	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	benign,,benign,benign,benign,benign,benign,benign,benign	9/442,,9/452,9/435,9/452,9/198,9/198,9/198,70/513	90020686	1,12995	2198	4300	6498	SO:0001583	missense	54849			AK131370	CCDS10989.1, CCDS45555.1, CCDS58493.1, CCDS58494.1, CCDS58495.1, CCDS58496.1	16q24.3	2011-01-31			ENSG00000140995	ENSG00000140995			25969	protein-coding gene	gene with protein product						12477932	Standard	NM_207514		Approved	FLJ20186	uc002fpn.2	Q6ZN54	OTTHUMG00000138989	ENST00000268676.7:c.209G>A	16.37:g.90020686G>A	ENSP00000268676:p.Arg70His		B3KT65|B4DK62|B4E0S9|B7Z3H6|H3BUG7|Q8N8N3|Q9NXL0	Missense_Mutation	SNP	ENST00000268676.7	37	CCDS10989.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.230866	0.79688	2.27E-4	0.0	ENSG00000140995	ENST00000268676;ENST00000418391	T;T	0.50277	0.75;0.76	5.11	5.11	0.69529	.	0.412580	0.24735	N	0.036023	T	0.47451	0.1446	M	0.69823	2.125	0.38061	D	0.936082	B;B;B;P	0.35600	0.116;0.116;0.014;0.511	B;B;B;B	0.25291	0.016;0.016;0.003;0.059	T	0.60566	-0.7238	10	0.87932	D	0	-15.9482	17.6689	0.88211	0.0:0.0:1.0:0.0	.	9;9;70;9	Q6ZN54-5;Q6ZN54-3;Q6ZN54;Q6ZN54-2	.;.;DEFI8_HUMAN;.	H	70;9	ENSP00000268676:R70H;ENSP00000412784:R9H	ENSP00000268676:R70H	R	+	2	0	DEF8	88548187	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	4.092000	0.57707	2.538000	0.85594	0.561000	0.74099	CGT		0.632	DEF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000272878.1	NM_207514		A	90020686	G	A	90020686	3	1	734	1	0	0	0	0	1	0	0	0	4389	1145	40	1	215	1	DEF8	16	90020686	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	851582	90020686	334067	817	42236											
C16orf3	2622	mdanderson.org	37	16	90095596	90095597	+	Intron	DNP	AT	AT	GC	rs61118444|rs55742939|rs71137702	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	AT	AT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:90095596_90095597AT>GC	ENST00000268699.4	+	2	212				GAS8_ENST00000536122.1_Intron|C16orf3_ENST00000408886.2_Missense_Mutation_p.I52A|GAS8_ENST00000540721.1_Intron	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8						cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		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;0.029)		ggggcaggctatggggcagcct	0.663																																																0																																										SO:0001627	intron_variant	750			AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"growth arrest-specific 11"	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	Exception_encountered	16.37:g.90095596_90095597delinsGC			B2RCT1|B7Z4U1|G3V1L5|Q2M234	Missense_Mutation	DNP	ENST00000268699.4	37	CCDS10992.1																																																																																				0.663	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2			GC	90095597	AT	GC	90095596	1	3	734	0	1	0	0	0	0	0	0	0	1814	449	16	3		3	C16orf3	16	90095596	Intron	DNP	AT	TCGA-KN-8428-01A-11D-2310-10	74910	90095596	259157	818	42237											
ITGAE	3682	hgsc.bcm.edu;ucsc.edu	37	17	3649159	3649159	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:3649159G>A	ENST00000263087.4	-	18	2316	c.2218C>T	c.(2218-2220)Ctg>Ttg	p.L740L		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	740					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)		GAACACTGCAGCCGTCTCCTC	0.597																																					NSCLC(182;635 2928 8995 38788)											0													137	110	119					17																	3649159		2203	4300	6503	SO:0001819	synonymous_variant	3682			L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"CD molecules", "Integrins"	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.2218C>T	17.37:g.3649159G>A			Q17RS6|Q9NZU9	Silent	SNP	ENST00000263087.4	37	CCDS32531.1																																																																																				0.597	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438169.1	NM_002208		A	3649159	G	A	3649159	2	1	734	1	0	0	0	0	0	0	0	1	7887	962	34	2		2	ITGAE	17	3649159	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10		3649159	77546051	819	42238											
ATP2A3	489	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	17	3839671	3839671	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:3839671G>A	ENST00000352011.3	-	16	2468	c.2414C>T	c.(2413-2415)aCg>aTg	p.T805M	ATP2A3_ENST00000397035.3_Missense_Mutation_p.T805M|ATP2A3_ENST00000359983.3_Missense_Mutation_p.T805M|ATP2A3_ENST00000397039.1_De_novo_Start_InFrame|ATP2A3_ENST00000397043.3_Missense_Mutation_p.T805M|ATP2A3_ENST00000309890.7_Missense_Mutation_p.T805M|ATP2A3_ENST00000397041.3_Missense_Mutation_p.T805M			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	805					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)	p.T805M(1)		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)		GCCCAGAGCCGTGGCAGGTAG	0.622																																					GBM(32;29 774 15719 37967)											1	Substitution - Missense(1)	large_intestine(1)											76	78	77					17																	3839671		2203	4300	6503	SO:0001583	missense	489				CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"ATPases / P-type"	813	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 3", "calcium pump 3"	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.2414C>T	17.37:g.3839671G>A	ENSP00000301387:p.Thr805Met		A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Missense_Mutation	SNP	ENST00000352011.3	37	CCDS11041.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.131325	0.77549	.	.	ENSG00000074370	ENST00000397043;ENST00000352011;ENST00000359983;ENST00000397041;ENST00000397045;ENST00000309890;ENST00000397035	D;D;D;D;D;D	0.95821	-3.82;-3.82;-3.82;-3.82;-3.82;-3.82	4.16	4.16	0.48862	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.97617	0.9219	M	0.83384	2.64	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.987;0.996;0.995;0.995;0.987	D;P;P;P;P;P	0.87578	0.998;0.52;0.551;0.52;0.52;0.52	D	0.97484	1.0049	10	0.49607	T	0.09	.	16.7249	0.85419	0.0:0.0:1.0:0.0	.	805;805;805;805;805;805	Q93084-4;Q93084-2;Q93084;Q93084-6;G3XAE1;Q93084-3	.;.;AT2A3_HUMAN;.;.;.	M	805	ENSP00000380236:T805M;ENSP00000301387:T805M;ENSP00000353072:T805M;ENSP00000380234:T805M;ENSP00000312577:T805M;ENSP00000380229:T805M	ENSP00000312577:T805M	T	-	2	0	ATP2A3	3786420	1.000000	0.71417	0.963000	0.40424	0.828000	0.46876	9.657000	0.98554	2.607000	0.88179	0.561000	0.74099	ACG		0.622	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438401.1	NM_174953		A	3839671	G	A	3839671	3	1	734	1	0	0	0	0	1	0	0	0	1138	1145	40	1	820	1	ATP2A3	17	3839671	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	190512	3839671	77355539	820	42239											
SMTNL2	342527	hgsc.bcm.edu;ucsc.edu	37	17	4500239	4500239	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:4500239C>T	ENST00000389313.4	+	6	1141	c.1074C>T	c.(1072-1074)ctC>ctT	p.L358L	SMTNL2_ENST00000338859.4_Silent_p.L214L	NM_001114974.1	NP_001108446.1	Q2TAL5	SMTL2_HUMAN	smoothelin-like 2	358	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.									breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1)	13				READ - Rectum adenocarcinoma(115;0.0325)		AGATCCTGCTCGAGTGGTGCC	0.692																																																0													12	11	11					17																	4500239		2105	4143	6248	SO:0001819	synonymous_variant	342527			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.1074C>T	17.37:g.4500239C>T			Q6ZVK6	Silent	SNP	ENST00000389313.4	37	CCDS45583.1																																																																																				0.692	SMTNL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439129.1	NM_198501		T	4500239	C	T	4500239	2	4	734	1	0	0	0	0	0	0	0	1	14822	871	31	1		1	SMTNL2	17	4500239	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	660568	4500239	76694971	821	42240											
USP6	9098	mdanderson.org	37	17	5044784	5044784	+	Silent	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:5044784T>C	ENST00000574788.1	+	23	3793	c.1563T>C	c.(1561-1563)gaT>gaC	p.D521D	USP6_ENST00000250066.6_Silent_p.D521D|USP6_ENST00000304328.5_Silent_p.D204D|USP6_ENST00000332776.4_Silent_p.D521D			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	521					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						GTAAAATAGATAGACAAAAGG	0.294			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts																																		Dom	yes		17	17p13	9098	ubiquitin specific peptidase 6 (Tre-2 oncogene)		M	0													82	78	79					17																	5044784		2203	4295	6498	SO:0001819	synonymous_variant	9098			X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"Ubiquitin-specific peptidases"	12629	protein-coding gene	gene with protein product	"ubiquitin carboxyl-terminal hydrolase 6", "TBC1D3 and USP32 fusion", "Tre-2 oncogene"	604334	"ubiquitin specific protease 6 (Tre-2 oncogene)", "TRE oncogene, Smith Magenis syndrome chromosome region", "ubiquitin specific peptidase 6 (Tre-2 oncogene)"	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.1563T>C	17.37:g.5044784T>C			Q15634|Q86WP6|Q8IWT4	Silent	SNP	ENST00000574788.1	37	CCDS11069.2																																																																																				0.294	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505		C	5044784	T	C	5044784	2	2	734	1	0	0	0	0	0	0	0	1	17091	1403	49	3		3	USP6	17	5044784	Silent	SNP	T	TCGA-KN-8428-01A-11D-2310-10	544545	5044784	76150426	822	42241											
NLRP1	22861	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	17	5436264	5436264	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:5436264G>A	ENST00000572272.1	-	11	3173	c.3174C>T	c.(3172-3174)tgC>tgT	p.C1058C	NLRP1_ENST00000354411.3_Silent_p.C1028C|NLRP1_ENST00000262467.5_Silent_p.C1062C|NLRP1_ENST00000577119.1_Silent_p.C1028C|NLRP1_ENST00000269280.4_Silent_p.C1058C|NLRP1_ENST00000345221.3_Silent_p.C1058C|NLRP1_ENST00000571307.1_5'UTR			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1058					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)				GAGAAGGCACGCACAAGAGTT	0.607																																																0													88	77	81					17																	5436264		2203	4300	6503	SO:0001819	synonymous_variant	22861			AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"Nucleotide-binding domain and leucine rich repeat containing"	14374	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"	606636	"NACHT, leucine rich repeat and PYD (pyrin domain) containing 1", "systemic lupus erythematosus, vitiligo-related 1"	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.3174C>T	17.37:g.5436264G>A			E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Silent	SNP	ENST00000572272.1	37	CCDS42246.1																																																																																				0.607	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004		A	5436264	G	A	5436264	2	1	734	1	0	0	0	0	0	0	0	1	10473	1079	38	1		1	NLRP1	17	5436264	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	391480	5436264	75758946	823	42242											
SLC16A13	201232	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	17	6941569	6941569	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:6941569G>A	ENST00000308027.6	+	3	750	c.442G>A	c.(442-444)Gtg>Atg	p.V148M		NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN	solute carrier family 16, member 13	148						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						ACTGACAGGCGTGGGCCTCTC	0.642																																																0													77	81	80					17																	6941569		2203	4300	6503	SO:0001583	missense	201232			BN000145	CCDS11085.1	17p13.1	2013-07-18	2013-07-18		ENSG00000174327	ENSG00000174327		"Solute carriers"	31037	protein-coding gene	gene with protein product	"monocarboxylic acid transporter 13"		"solute carrier family 16 (monocarboxylic acid transporters), member 13"				Standard	NM_201566		Approved	MCT13	uc002geh.3	Q7RTY0	OTTHUMG00000102089	ENST00000308027.6:c.442G>A	17.37:g.6941569G>A	ENSP00000309751:p.Val148Met		A3KMG3|A5PKU5|Q2VP92	Missense_Mutation	SNP	ENST00000308027.6	37	CCDS11085.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.558032	0.65538	.	.	ENSG00000174327	ENST00000308027	T	0.37584	1.19	5.54	4.37	0.52481	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.212945	0.40640	N	0.001057	T	0.23886	0.0578	N	0.24115	0.695	0.45046	D	0.998069	P	0.37398	0.593	B	0.33521	0.165	T	0.06516	-1.0822	10	0.48119	T	0.1	.	12.5283	0.56100	0.095:0.0:0.905:0.0	.	148	Q7RTY0	MOT13_HUMAN	M	148	ENSP00000309751:V148M	ENSP00000309751:V148M	V	+	1	0	SLC16A13	6882293	1.000000	0.71417	0.988000	0.46212	0.914000	0.54420	4.252000	0.58785	2.602000	0.87976	0.563000	0.77884	GTG		0.642	SLC16A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219923.2			A	6941569	G	A	6941569	3	1	734	1	0	0	0	0	1	0	0	0	14412	1145	40	1	452	1	SLC16A13	17	6941569	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1505305	6941569	74253641	824	42243											
NEURL4	84461	hgsc.bcm.edu;mdanderson.org	37	17	7228701	7228701	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:7228701G>A	ENST00000399464.2	-	8	1473	c.1458C>T	c.(1456-1458)aaC>aaT	p.N486N	NEURL4_ENST00000315614.7_Silent_p.N486N|NEURL4_ENST00000570460.1_Silent_p.N464N	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	486						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						GGTCACTGTGGTTGTTATTGT	0.642																																																0													111	122	119					17																	7228701		2123	4217	6340	SO:0001819	synonymous_variant	84461				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.1458C>T	17.37:g.7228701G>A			Q6GPI8|Q96IU9|Q9H0B0	Silent	SNP	ENST00000399464.2	37	CCDS42251.1																																																																																				0.642	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	NM_032442		A	7228701	G	A	7228701	2	1	734	1	0	0	0	0	0	0	0	1	10349	1252	44	2		2	NEURL4	17	7228701	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	287132	7228701	73966509	825	42244											
TP53	7157	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A	rs397516435		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:7578263G>A	ENST00000269305.4	-	6	775	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000420246.2_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)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	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)	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)	GRCh37	CM941329	TP53	M							102	91	94					17																	7578263		2203	4300	6503	SO:0001587	stop_gained	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.586C>T	17.37:g.7578263G>A	ENSP00000269305:p.Arg196*		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	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		A	7578263	G	A	7578263	4	1	734	1	0	0	0	0	0	1	0	0	16386	1124	39	1	708	1	TP53	17	7578263	Nonsense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	349562	7578263	73616947	826	42245											
CHD3	1107	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	17	7814222	7814222	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:7814222G>A	ENST00000330494.7	+	39	5962	c.5812G>A	c.(5812-5814)Gca>Aca	p.A1938T	AC025335.1_ENST00000324348.7_RNA|CHD3_ENST00000380358.4_Missense_Mutation_p.A1997T|CHD3_ENST00000358181.4_Missense_Mutation_p.A1904T	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1938	Required for interaction with PCNT.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CTTCAGCGCCGCACCCGTAGG	0.627																																																0													61	72	68					17																	7814222		2203	4299	6502	SO:0001583	missense	1107			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"Zinc fingers, PHD-type"	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.5812G>A	17.37:g.7814222G>A	ENSP00000332628:p.Ala1938Thr		D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	37	CCDS32554.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	11.87|11.87	1.767540|1.767540	0.31320|0.31320	.|.	.|.	ENSG00000170004|ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494|ENST00000439235;ENST00000449744	D;D;D|.	0.90385|.	-2.66;-2.59;-2.59|.	5.05|5.05	3.02|3.02	0.34903|0.34903	.|.	0.000000|.	0.42821|.	D|.	0.000656|.	T|T	0.32912|0.32912	0.0845|0.0845	N|N	0.14661|0.14661	0.345|0.345	0.33703|0.33703	D|D	0.614842|0.614842	B;B;B;B;B|.	0.11235|.	0.003;0.004;0.0;0.0;0.002|.	B;B;B;B;B|.	0.04013|.	0.001;0.001;0.001;0.0;0.001|.	T|T	0.47341|0.47341	-0.9125|-0.9125	10|6	0.20519|0.56958	T|D	0.43|0.05	-6.0176|-6.0176	6.1389|6.1389	0.20249|0.20249	0.3916:0.0:0.6084:0.0|0.3916:0.0:0.6084:0.0	.|.	917;515;1904;1938;1997|.	B4DLC6;B3KWV4;Q12873-2;Q12873;E9PG89|.	.;.;.;CHD3_HUMAN;.|.	T|H	1997;1904;1938|281;175	ENSP00000369716:A1997T;ENSP00000350907:A1904T;ENSP00000332628:A1938T|.	ENSP00000332628:A1938T|ENSP00000395252:R281H	A|R	+|+	1|2	0|0	CHD3|CHD3	7754947|7754947	0.705000|0.705000	0.27846|0.27846	1.000000|1.000000	0.80357|0.80357	0.939000|0.939000	0.58152|0.58152	2.108000|2.108000	0.41854|0.41854	1.358000|1.358000	0.45922|0.45922	0.604000|0.604000	0.83254|0.83254	GCA|CGC		0.627	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		A	7814222	G	A	7814222	3	1	734	1	0	0	0	0	1	0	0	0	3328	1087	38	1	6247	1	CHD3	17	7814222	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	235959	7814222	73380988	827	42246											
PER1	5187	broad.mit.edu;ucsc.edu;mdanderson.org	37	17	8044491	8044491	+	Silent	SNP	G	G	A	rs199916672	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:8044491G>A	ENST00000317276.4	-	23	4005	c.3768C>T	c.(3766-3768)ggC>ggT	p.G1256G	PER1_ENST00000581082.1_Silent_p.G1233G|PER1_ENST00000578089.1_5'Flank	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	1256	CRY binding domain. {ECO:0000250}.				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						CCTTGGCCCCGCCTTGGGCCT	0.637			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes					G|||	3	0.000599042	0.0	0.0	5008	,	,		18924	0.0		0.0	False		,,,				2504	0.0031						Dom	yes		17	17p13.1-17p12	5187	period homolog 1 (Drosophila)		L	0								G		0,4406		0,0,2203	156	168	164		3768	0.2	0	17		164	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PER1	NM_002616.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1256/1291	8044491	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5187			AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"period (Drosophila) homolog 1", "period homolog 1 (Drosophila)"	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.3768C>T	17.37:g.8044491G>A			B2RPA8|B4DI49|D3DTR3	Silent	SNP	ENST00000317276.4	37	CCDS11131.1																																																																																				0.637	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2			A	8044491	G	A	8044491	2	1	734	1	0	0	0	0	0	0	0	1	11731	1074	38	1		1	PER1	17	8044491	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	230269	8044491	73150719	828	42247											
MYH13	8735	ucsc.edu;mdanderson.org	37	17	10267836	10267836	+	Silent	SNP	G	G	A	rs34042358	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:10267836G>A	ENST00000418404.3	-	2	175	c.12C>T	c.(10-12)gaC>gaT	p.D4D	MYH13_ENST00000252172.4_Silent_p.D4D			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	4					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						CCATTTCTGCGTCAGAGCTCA	0.527																																																0													49	46	47					17																	10267836		1937	4152	6089	SO:0001819	synonymous_variant	8735			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.12C>T	17.37:g.10267836G>A			O95252|Q9P0U8	Silent	SNP	ENST00000418404.3	37	CCDS45613.1																																																																																				0.527	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		A	10267836	G	A	10267836	2	1	734	1	0	0	0	0	0	0	0	1	10034	1136	40	1		1	MYH13	17	10267836	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	2223345	10267836	70927374	829	42248											
ELAC2	60528	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	17	12896262	12896262	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:12896262C>T	ENST00000338034.4	-	24	2593	c.2354G>A	c.(2353-2355)cGg>cAg	p.R785Q	RP11-597M12.1_ENST00000582915.1_RNA|ELAC2_ENST00000395962.2_Missense_Mutation_p.R766Q|ELAC2_ENST00000426905.3_Missense_Mutation_p.R745Q	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	785					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						CCGCAGCTCCCGCTTCTCCCT	0.647																																																0													53	56	55					17																	12896262		2203	4300	6503	SO:0001583	missense	60528			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.2354G>A	17.37:g.12896262C>T	ENSP00000337445:p.Arg785Gln		B4DPL9|Q6IA94|Q9HAS8|Q9HAS9|Q9NVT1	Missense_Mutation	SNP	ENST00000338034.4	37	CCDS11164.1	.	.	.	.	.	.	.	.	.	.	C	19.64	3.865682	0.71949	.	.	ENSG00000006744	ENST00000426905;ENST00000338034;ENST00000395962	T;T;T	0.69040	0.15;-0.33;-0.37	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.82337	0.5015	M	0.79011	2.435	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D;D;D	0.83275	0.978;0.992;0.996;0.992;0.992;0.978;0.992;0.996	D	0.83997	0.0341	10	0.66056	D	0.02	-33.6924	16.9478	0.86235	0.0:1.0:0.0:0.0	.	745;768;766;583;785;545;770;413	B4DPL9;E9PGJ0;G5E9D5;E7ES68;Q9BQ52;B3KSU9;B4DT15;Q9BQ52-3	.;.;.;.;RNZ2_HUMAN;.;.;.	Q	745;785;766	ENSP00000405223:R745Q;ENSP00000337445:R785Q;ENSP00000379291:R766Q	ENSP00000337445:R785Q	R	-	2	0	ELAC2	12836987	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.133000	0.77259	2.593000	0.87608	0.655000	0.94253	CGG		0.647	ELAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129934.5			T	12896262	C	T	12896262	3	4	734	1	0	0	0	0	1	0	0	0	5049	652	23	1	130	1	ELAC2	17	12896262	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	2628426	12896262	68298948	830	42249											
MED9	55090	ucsc.edu	37	17	17380564	17380564	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:17380564A>G	ENST00000268711.3	+	1	265	c.209A>G	c.(208-210)cAc>cGc	p.H70R	MED9_ENST00000585041.1_3'UTR|MED9_ENST00000580462.1_Missense_Mutation_p.H70R	NM_018019.2	NP_060489.1	Q9NWA0	MED9_HUMAN	mediator complex subunit 9	70						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						CCTTTGGTTCACAACATCATC	0.597																																																0													34	34	34					17																	17380564		2203	4300	6503	SO:0001583	missense	55090			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.209A>G	17.37:g.17380564A>G	ENSP00000268711:p.His70Arg			Missense_Mutation	SNP	ENST00000268711.3	37	CCDS11184.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.338659	0.81911	.	.	ENSG00000141026	ENST00000268711	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.70971	0.3285	L	0.59912	1.85	0.44439	D	0.997367	D	0.62365	0.991	D	0.78314	0.991	T	0.71609	-0.4541	9	0.48119	T	0.1	-36.0499	12.4145	0.55486	1.0:0.0:0.0:0.0	.	70	Q9NWA0	MED9_HUMAN	R	70	.	ENSP00000268711:H70R	H	+	2	0	MED9	17321289	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.540000	0.60664	2.182000	0.69389	0.482000	0.46254	CAC		0.597	MED9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131669.2	NM_018019		G	17380564	A	G	17380564	3	3	734	1	0	0	0	0	1	0	0	0	9456	159	6	3	211	3	MED9	17	17380564	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	4484302	17380564	63814646	831	42250											
MYO15A	51168	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	17	18052173	18052173	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:18052173C>T	ENST00000205890.5	+	33	7201	c.6863C>T	c.(6862-6864)tCg>tTg	p.S2288L	snoU13_ENST00000459354.1_RNA	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2288	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)					GACCTGGTGTCGGACCTGGAG	0.627																																																0													24	27	26					17																	18052173		2055	4201	6256	SO:0001583	missense	51168			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.6863C>T	17.37:g.18052173C>T	ENSP00000205890:p.Ser2288Leu		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	c	17.57	3.421513	0.62622	.	.	ENSG00000091536	ENST00000205890	D	0.89810	-2.57	4.48	4.48	0.54585	.	.	.	.	.	D	0.89252	0.6662	M	0.76002	2.32	0.80722	D	1	D	0.58970	0.984	P	0.45538	0.484	D	0.90609	0.4550	9	0.66056	D	0.02	.	13.1395	0.59426	0.0:0.8391:0.1609:0.0	.	2288	Q9UKN7	MYO15_HUMAN	L	2288	ENSP00000205890:S2288L	ENSP00000205890:S2288L	S	+	2	0	MYO15A	17992898	1.000000	0.71417	0.984000	0.44739	0.907000	0.53573	5.725000	0.68507	2.322000	0.78497	0.450000	0.29827	TCG		0.627	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		T	18052173	C	T	18052173	3	4	734	1	0	0	0	0	1	0	0	0	10065	893	31	1	6985	1	MYO15A	17	18052173	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	671609	18052173	63143037	832	42251											
SLC5A10	125206	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	17	18923133	18923133	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:18923133C>T	ENST00000395645.3	+	13	1536	c.1518C>T	c.(1516-1518)gcC>gcT	p.A506A	SLC5A10_ENST00000395643.2_Silent_p.A479A|SLC5A10_ENST00000395642.1_Silent_p.A476A|SLC5A10_ENST00000395647.2_Silent_p.A522A|SLC5A10_ENST00000417251.2_Silent_p.A470A|SLC5A10_ENST00000317977.6_Silent_p.A476A	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	506					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						CGCGGCCAGCCGTCCTGGGGA	0.657																																																0													47	44	45					17																	18923133		2203	4299	6502	SO:0001819	synonymous_variant	125206				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.1518C>T	17.37:g.18923133C>T			A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	Silent	SNP	ENST00000395645.3	37	CCDS42275.1																																																																																				0.657	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132129.2	NM_152351		T	18923133	C	T	18923133	2	4	734	1	0	0	0	0	0	0	0	1	14668	639	23	1		1	SLC5A10	17	18923133	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	870960	18923133	62272077	833	42252											
MYO18A	399687	broad.mit.edu	37	17	27423863	27423863	+	Missense_Mutation	SNP	C	C	T	rs375872794		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:27423863C>T	ENST00000527372.1	-	28	4481	c.4301G>A	c.(4300-4302)cGa>cAa	p.R1434Q	MYO18A_ENST00000533112.1_Missense_Mutation_p.R1434Q|MYO18A_ENST00000354329.4_Missense_Mutation_p.R1434Q|MYO18A_ENST00000531253.1_Missense_Mutation_p.R1434Q	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1434					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)			AGCCGTCAGTCGCTGGCACTT	0.617																																					Esophageal Squamous(182;472 2015 7001 15270 22562)											0								C	GLN/ARG,GLN/ARG	1,4255		0,1,2127	28	31	30		4301,4301	5.5	1	17		30	0,8536		0,0,4268	no	missense,missense	MYO18A	NM_078471.3,NM_203318.1	43,43	0,1,6395	TT,TC,CC		0.0,0.0235,0.0078	probably-damaging,probably-damaging	1434/2055,1434/2040	27423863	1,12791	2128	4268	6396	SO:0001583	missense	399687			D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"Myosins / Myosin superfamily : Class XVIII"	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.4301G>A	17.37:g.27423863C>T	ENSP00000437073:p.Arg1434Gln		Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	C	34	5.306160	0.95629	2.35E-4	0.0	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000529799;ENST00000540575;ENST00000458428	D;T;D;D	0.83250	-1.7;1.57;-1.7;-1.7	5.53	5.53	0.82687	Myosin tail (1);	0.105696	0.64402	D	0.000013	D	0.90079	0.6901	M	0.77820	2.39	0.33459	D	0.584714	D;D;D;D;D	0.65815	0.99;0.975;0.975;0.975;0.995	P;P;P;P;P	0.58210	0.593;0.482;0.482;0.482;0.835	D	0.93109	0.6515	10	0.72032	D	0.01	.	19.4519	0.94871	0.0:1.0:0.0:0.0	.	1103;1046;1434;1434;1434	Q92614-2;F8W6Y3;Q92614-3;Q92614-4;Q92614	.;.;.;.;MY18A_HUMAN	Q	1434;1434;1434;1434;1434;330;330;1046	ENSP00000346291:R1434Q;ENSP00000435932:R1434Q;ENSP00000434228:R1434Q;ENSP00000437073:R1434Q	ENSP00000346291:R1434Q	R	-	2	0	MYO18A	24447989	0.977000	0.34250	0.999000	0.59377	0.922000	0.55478	2.369000	0.44231	2.606000	0.88127	0.591000	0.81541	CGA		0.617	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		T	27423863	C	T	27423863	3	4	734	1	0	0	0	0	1	0	0	0	10067	884	31	1	1923	1	MYO18A	17	27423863	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	8500730	27423863	53771347	834	42253											
GIT1	28964	broad.mit.edu	37	17	27901911	27901911	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:27901911G>A	ENST00000225394.3	-	20	2343	c.2095C>T	c.(2095-2097)Cgg>Tgg	p.R699W	RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000579937.1_3'UTR|GIT1_ENST00000581348.1_Missense_Mutation_p.R685W|GIT1_ENST00000394869.3_Missense_Mutation_p.R708W	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	699	Interaction with PXN and TGFB1I1. {ECO:0000250}.				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)		AGTGAGCTCCGCACTGGCTCC	0.657																																					Colon(81;41 1719 20078 35068)											0													9	10	10					17																	27901911		2177	4255	6432	SO:0001583	missense	28964			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.2095C>T	17.37:g.27901911G>A	ENSP00000225394:p.Arg699Trp		B4DGU9|B4DSV3|Q86SS0|Q9BRJ4	Missense_Mutation	SNP	ENST00000225394.3	37	CCDS11250.1	.	.	.	.	.	.	.	.	.	.	G	19.71	3.879048	0.72294	.	.	ENSG00000108262	ENST00000225394;ENST00000394869	T;T	0.75938	-0.92;-0.98	4.65	4.65	0.58169	G protein-coupled receptor kinase-interacting protein 1 C term (1);	0.063541	0.64402	D	0.000005	D	0.87676	0.6237	M	0.85197	2.74	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.998;0.998;0.994	D	0.89738	0.3931	10	0.87932	D	0	.	17.7096	0.88318	0.0:0.0:1.0:0.0	.	712;708;699	Q59FC3;B4DGU9;Q9Y2X7	.;.;GIT1_HUMAN	W	699;708	ENSP00000225394:R699W;ENSP00000378338:R708W	ENSP00000225394:R699W	R	-	1	2	GIT1	24926037	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.645000	0.46621	2.574000	0.86865	0.655000	0.94253	CGG		0.657	GIT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256073.1	NM_014030		A	27901911	G	A	27901911	3	1	734	1	0	0	0	0	1	0	0	0	6398	1086	38	1	194	1	GIT1	17	27901911	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	478048	27901911	53293299	835	42254											
NF1	4763	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	17	29653046	29653046	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:29653046T>C	ENST00000358273.4	+	37	5427	c.5044T>C	c.(5044-5046)Tgt>Cgt	p.C1682R	NF1_ENST00000581113.2_3'UTR|NF1_ENST00000356175.3_Missense_Mutation_p.C1661R	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1682	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)		TATCTATAACTGTAACTCCTG	0.463			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	11	Whole gene deletion(8)|Unknown(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)											104	99	101					17																	29653046		2203	4300	6503	SO:0001583	missense	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.5044T>C	17.37:g.29653046T>C	ENSP00000351015:p.Cys1682Arg		O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.495195	0.85069	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	T;T;T	0.62498	0.02;0.02;0.02	5.63	5.63	0.86233	Cellular retinaldehyde-binding/triple function, C-terminal (2);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.80071	0.4556	M	0.80028	2.48	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.996;0.998;0.99	T	0.82862	-0.0247	10	0.72032	D	0.01	.	15.0195	0.71617	0.0:0.0:0.0:1.0	.	711;1661;1682	Q59FX3;P21359-2;P21359	.;.;NF1_HUMAN	R	1682;1661;1327	ENSP00000351015:C1682R;ENSP00000348498:C1661R;ENSP00000389907:C1327R	ENSP00000348498:C1661R	C	+	1	0	NF1	26677172	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.665000	0.83852	2.156000	0.67533	0.528000	0.53228	TGT		0.463	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		C	29653046	T	C	29653046	3	2	734	1	0	0	0	0	1	0	0	0	10358	1580	55	3	5251	3	NF1	17	29653046	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	1751135	29653046	51542164	836	42255											
GPR179	440435	broad.mit.edu;mdanderson.org;bcgsc.ca	37	17	36499408	36499408	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:36499408G>A	ENST00000342292.4	-	1	285	c.265C>T	c.(265-267)Cca>Tca	p.P89S		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	89					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)				GGGAGCCCTGGCATGGCTCCT	0.627																																																0													26	27	27					17																	36499408		1973	4131	6104	SO:0001583	missense	440435				CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"GPCR / Class C : Orphans"	31371	protein-coding gene	gene with protein product		614515	"GPR158-like 1", "GPR179"	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.265C>T	17.37:g.36499408G>A	ENSP00000345060:p.Pro89Ser			Missense_Mutation	SNP	ENST00000342292.4	37	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	G	2.305	-0.359368	0.05138	.	.	ENSG00000188888	ENST00000342292	T	0.77877	-1.13	5.32	-6.93	0.01638	.	1.079380	0.07091	N	0.838662	T	0.61211	0.2329	L	0.28694	0.88	0.09310	N	1	P	0.35077	0.483	B	0.30943	0.122	T	0.53823	-0.8384	10	0.44086	T	0.13	0.5925	11.1639	0.48531	0.3154:0.5573:0.1273:0.0	.	89	Q6PRD1	GP179_HUMAN	S	89	ENSP00000345060:P89S	ENSP00000345060:P89S	P	-	1	0	GPR179	33752934	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-0.709000	0.05030	-1.063000	0.03177	-0.768000	0.03414	CCA		0.627	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			A	36499408	G	A	36499408	3	1	734	1	0	0	0	0	1	0	0	0	6676	1203	42	2	6882	2	GPR179	17	36499408	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	6846362	36499408	44695802	837	42256											
SOCS7	30837	broad.mit.edu	37	17	36521270	36521270	+	Silent	SNP	G	G	A	rs149190855		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:36521270G>A	ENST00000577233.1	+	4	1038	c.1038G>A	c.(1036-1038)ccG>ccA	p.P346P	SOCS7_ENST00000331159.5_Intron	NM_014598.2	NP_055413.1	O14512	SOCS7_HUMAN	suppressor of cytokine signaling 7	346	Mediates interaction with SORBS3.|Poly-Pro.				fat cell differentiation (GO:0045444)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|negative regulation of signal transduction (GO:0009968)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			central_nervous_system(1)|endometrium(1)|kidney(1)|prostate(1)|skin(5)	9	Breast(7;3.47e-17)					CCCTACCTCCGCCTCCTCCAC	0.498																																																0								G		0,4406		0,0,2203	87	81	83		1038	2.5	1	17	dbSNP_134	83	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	SOCS7	NM_014598.2		0,3,6500	AA,AG,GG		0.0349,0.0,0.0231		346/582	36521270	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	30837			AB005216	CCDS32637.1	17q12	2014-08-12			ENSG00000274211	ENSG00000274211		"Suppressors of cytokine signaling", "SH2 domain containing"	29846	protein-coding gene	gene with protein product	"Nck, Ash and phospholipase C binding protein", "NCK-associated protein 4"	608788				9344857, 12076535	Standard	XM_005257264		Approved	NAP4, NCKAP4	uc002hqa.3	O14512	OTTHUMG00000188546	ENST00000577233.1:c.1038G>A	17.37:g.36521270G>A			A2VCU2|Q0IJ63	Silent	SNP	ENST00000577233.1	37	CCDS32637.1																																																																																				0.498	SOCS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440486.4	XM_371052		A	36521270	G	A	36521270	2	1	734	1	0	0	0	0	0	0	0	1	14925	1074	38	1		1	SOCS7	17	36521270	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	21862	36521270	44673940	838	42257											
GRB7	2886	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	17	37900401	37900401	+	Missense_Mutation	SNP	C	C	T	rs373836261		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:37900401C>T	ENST00000309156.4	+	7	999	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C	GRB7_ENST00000309185.3_Missense_Mutation_p.R248C|GRB7_ENST00000394209.2_Missense_Mutation_p.R248C|GRB7_ENST00000445327.2_Missense_Mutation_p.R271C|GRB7_ENST00000394211.3_Missense_Mutation_p.R248C|GRB7_ENST00000394204.1_Missense_Mutation_p.R248C	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	248	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)			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)			GCTTTGGAAACGCTTTTTCTG	0.567													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17930	0.0		0.0	False		,,,				2504	0.0															0								C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	173	173	173		742,811,742,742	5.5	1	17		173	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	GRB7	NM_001030002.2,NM_001242442.1,NM_001242443.1,NM_005310.3	180,180,180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/533,271/556,248/533,248/533	37900401	1,13005	2203	4300	6503	SO:0001583	missense	2886			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.742C>T	17.37:g.37900401C>T	ENSP00000310771:p.Arg248Cys		B2RAV1|B3KNL0|B3KWP9|B7WP75|J3KQM4|Q53YD3|Q92568|Q96DF9|Q9Y220	Missense_Mutation	SNP	ENST00000309156.4	37	CCDS11345.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.328103	0.81690	0.0	1.16E-4	ENSG00000141738	ENST00000309185;ENST00000309156;ENST00000394211;ENST00000394209;ENST00000445327;ENST00000394204	T;T;T;T;T;T	0.21191	2.02;2.02;2.02;2.02;2.02;2.02	5.47	5.47	0.80525	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.111742	0.64402	D	0.000015	T	0.39600	0.1084	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.985	T	0.11397	-1.0589	10	0.87932	D	0	-28.253	13.697	0.62587	0.155:0.845:0.0:0.0	.	248;248	Q14451-2;Q14451	.;GRB7_HUMAN	C	248;248;248;248;271;248	ENSP00000311752:R248C;ENSP00000310771:R248C;ENSP00000377761:R248C;ENSP00000377759:R248C;ENSP00000403459:R271C;ENSP00000377754:R248C	ENSP00000310771:R248C	R	+	1	0	GRB7	35153927	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.202000	0.51067	2.571000	0.86741	0.561000	0.74099	CGC		0.567	GRB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257024.2	NM_005310		T	37900401	C	T	37900401	3	4	734	1	0	0	0	0	1	0	0	0	6761	536	19	1	764	1	GRB7	17	37900401	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1379131	37900401	43294809	839	42258											
RAPGEFL1	51195	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	17	38345215	38345215	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:38345215C>T	ENST00000456989.2	+	5	524	c.478C>T	c.(478-480)Cgg>Tgg	p.R160W	RAPGEFL1_ENST00000436615.3_Missense_Mutation_p.R105W|RAPGEFL1_ENST00000544503.1_Missense_Mutation_p.R154W|RAPGEFL1_ENST00000264644.6_Missense_Mutation_p.R105W|RAPGEFL1_ENST00000540388.1_3'UTR			Q9UHV5	RPGFL_HUMAN	Rap guanine nucleotide exchange factor (GEF)-like 1	311					G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						GGTGGCCTTCCGGGGCTCTGA	0.612																																					Esophageal Squamous(28;274 750 6870 14218 42203)											0													39	43	41					17																	38345215		2203	4300	6503	SO:0001583	missense	51195			AF117946	CCDS11363.1	17q21.2	2006-08-01	2004-03-26		ENSG00000108352	ENSG00000108352			17428	protein-coding gene	gene with protein product	"Link guanine nucleotide exchange factor II"		"RAP guanine-nucleotide-exchange factor (GEF)-like 1"				Standard	NM_016339		Approved	Link-GEFII	uc010cwu.1	Q9UHV5	OTTHUMG00000133325	ENST00000456989.2:c.478C>T	17.37:g.38345215C>T	ENSP00000394530:p.Arg160Trp			Missense_Mutation	SNP	ENST00000456989.2	37		.	.	.	.	.	.	.	.	.	.	C	21.8	4.198133	0.79015	.	.	ENSG00000108352	ENST00000456989;ENST00000543876;ENST00000544503;ENST00000537255;ENST00000264644;ENST00000436615	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	5.73	4.73	0.59995	Ras guanine nucleotide exchange factor, domain (1);	0.063189	0.64402	D	0.000014	T	0.63861	0.2547	L	0.58101	1.795	0.53688	D	0.999976	D;D	0.89917	0.999;1.0	D;D	0.87578	0.96;0.998	T	0.66803	-0.5831	10	0.87932	D	0	.	12.5738	0.56352	0.3021:0.6979:0.0:0.0	.	41;311	B4DGK9;Q9UHV5	.;RPGFL_HUMAN	W	160;105;154;105;310;105	ENSP00000394530:R160W;ENSP00000440226:R105W;ENSP00000438631:R154W;ENSP00000408322:R105W	ENSP00000264644:R310W	R	+	1	2	RAPGEFL1	35598741	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.343000	0.44001	1.355000	0.45865	0.655000	0.94253	CGG		0.612	RAPGEFL1-005	PUTATIVE	non_canonical_conserved|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000397518.1	NM_016339		T	38345215	C	T	38345215	3	4	734	1	0	0	0	0	1	0	0	0	13055	643	23	1	323	1	RAPGEFL1	17	38345215	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	444814	38345215	42849995	840	42259											
RARA	5914	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	17	38512460	38512460	+	Silent	SNP	G	G	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:38512460G>T	ENST00000254066.5	+	9	1826	c.1371G>T	c.(1369-1371)ccG>ccT	p.P457P	RARA_ENST00000425707.3_Silent_p.P360P|RARA_ENST00000394081.3_Silent_p.P452P|RARA_ENST00000394089.2_Silent_p.P457P|RARA_ENST00000394086.3_Silent_p.P473P|RARA_ENST00000420042.1_3'UTR	NM_000964.3	NP_000955.1	P10276	RARA_HUMAN	retinoic acid receptor, alpha	457					apoptotic cell clearance (GO:0043277)|cellular response to estrogen stimulus (GO:0071391)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|chondroblast differentiation (GO:0060591)|embryonic camera-type eye development (GO:0031076)|face development (GO:0060324)|female pregnancy (GO:0007565)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|intracellular estrogen receptor signaling pathway (GO:0030520)|limb development (GO:0060173)|liver development (GO:0001889)|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 granulocyte differentiation (GO:0030853)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translational initiation (GO:0045947)|negative regulation of tumor necrosis factor production (GO:0032720)|neural tube closure (GO:0001843)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of binding (GO:0051099)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|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)|prostate gland development (GO:0030850)|protein phosphorylation (GO:0006468)|regulation of myelination (GO:0031641)|regulation of synaptic plasticity (GO:0048167)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to retinoic acid (GO:0032526)|response to vitamin A (GO:0033189)|retinoic acid receptor signaling pathway (GO:0048384)|Sertoli cell fate commitment (GO:0060010)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chromatin DNA binding (GO:0031490)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|mRNA 5'-UTR binding (GO:0048027)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein kinase A binding (GO:0051018)|protein kinase B binding (GO:0043422)|receptor binding (GO:0005102)|retinoic acid binding (GO:0001972)|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)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|translation repressor activity, nucleic acid binding (GO:0000900)|zinc ion binding (GO:0008270)			breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	GAAGCAGCCCGGCCACCCACT	0.731			T	"PML, ZNF145, TIF1, NUMA1, NPM1"	APL																																		Dom	yes		17	17q12	5914	"retinoic acid receptor, alpha"		L	0													2	2	2					17																	38512460		1439	2883	4322	SO:0001819	synonymous_variant	5914			X06538	CCDS11366.1, CCDS42317.1, CCDS45671.1	17q21.1	2014-01-20			ENSG00000131759	ENSG00000131759		"Nuclear hormone receptors"	9864	protein-coding gene	gene with protein product		180240				2825036, 8244378	Standard	NM_001145301		Approved	RAR, NR1B1	uc002huk.2	P10276	OTTHUMG00000133328	ENST00000254066.5:c.1371G>T	17.37:g.38512460G>T			B8Y636|P78456|Q13440|Q13441|Q96S41|Q9NQS0	Silent	SNP	ENST00000254066.5	37	CCDS11366.1	.	.	.	.	.	.	.	.	.	.	G	10.13	1.265831	0.23136	.	.	ENSG00000131759	ENST00000319149	.	.	.	5.24	0.475	0.16774	.	1.324360	0.05783	N	0.608960	T	0.50582	0.1624	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50600	-0.8809	6	0.72032	D	0.01	.	1.303	0.02083	0.217:0.2236:0.3994:0.1599	.	.	.	.	L	449	.	ENSP00000316769:R449L	R	+	2	0	RARA	35765986	0.183000	0.23186	0.998000	0.56505	0.986000	0.74619	-0.636000	0.05465	-0.058000	0.13177	0.561000	0.74099	CGG		0.731	RARA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257136.2			T	38512460	G	T	38512460	2	4	734	1	0	0	0	0	0	0	0	1	13058	1103	39	4		4	RARA	17	38512460	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	167245	38512460	42682750	841	42260											
TMEM99	147184	hgsc.bcm.edu;bcgsc.ca	37	17	38990812	38990812	+	Missense_Mutation	SNP	C	C	T	rs189743949		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:38990812C>T	ENST00000301665.3	+	3	348	c.44C>T	c.(43-45)tCg>tTg	p.S15L		NM_001195386.1|NM_001195387.1|NM_145274.3	NP_001182315.1|NP_001182316.1|NP_660317.2	Q8N816	TMM99_HUMAN	transmembrane protein 99	15						integral component of membrane (GO:0016021)				cervix(1)|large_intestine(1)|lung(5)|skin(2)|urinary_tract(1)	10		Breast(137;0.000301)				TGTGTCCCCTCGCTCTGTTGT	0.552													C|||	1	0.000199681	0.0	0.0	5008	,	,		17027	0.0		0.001	False		,,,				2504	0.0															0								C	LEU/SER,LEU/SER,LEU/SER	1,4215		0,1,2107	113	109	111		44,44,44	-0.3	0	17		111	2,8456		0,2,4227	yes	missense,missense,missense	TMEM99	NM_145274.3,NM_001195387.1,NM_001195386.1	145,145,145	0,3,6334	TT,TC,CC		0.0236,0.0237,0.0237	,,	15/259,15/259,15/259	38990812	3,12671	2108	4229	6337	SO:0001583	missense	147184			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.44C>T	17.37:g.38990812C>T	ENSP00000301665:p.Ser15Leu		B4DQ34|Q96BP9	Missense_Mutation	SNP	ENST00000301665.3	37	CCDS42319.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	0.059	-1.229268	0.01518	2.37E-4	2.36E-4	ENSG00000167920	ENST00000436612;ENST00000301665	T;T	0.29142	1.58;1.58	0.131	-0.261	0.12963	.	.	.	.	.	T	0.12987	0.0315	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.22068	-1.0227	6	0.87932	D	0	.	.	.	.	.	15	Q8N816	TMM99_HUMAN	L	15	ENSP00000390036:S15L;ENSP00000301665:S15L	ENSP00000301665:S15L	S	+	2	0	TMEM99	36244338	0.010000	0.17322	0.011000	0.14972	0.011000	0.07611	-1.070000	0.03440	-1.420000	0.02009	-1.450000	0.01041	TCG		0.552	TMEM99-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257681.1	NM_145274		T	38990812	C	T	38990812	3	4	734	1	0	0	0	0	1	0	0	0	16231	893	31	1	46	1	TMEM99	17	38990812	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	478352	38990812	42204398	842	42261											
KRTAP9-9	81870	broad.mit.edu;mdanderson.org	37	17	39411913	39411913	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:39411913C>T	ENST00000394008.1	+	1	278	c.276C>T	c.(274-276)ggC>ggT	p.G92G		NM_030975.2	NP_112237.2	Q9BYP9	KRA99_HUMAN	keratin associated protein 9-9	77	14 X 5 AA repeats of C-C-[RQVGE]- [SPSTNQ]-[TASL].					keratin filament (GO:0045095)				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			GCTGCTGTGGCCAAACCAGCT	0.627																																																0													60	62	62					17																	39411913		2203	4299	6502	SO:0001819	synonymous_variant	81870			AJ406951	CCDS54127.1	17q21.2	2010-06-03			ENSG00000198083	ENSG00000198083		"Keratin associated proteins"	16773	protein-coding gene	gene with protein product			"keratin associated protein 9-5"	KRTAP9-5		11279113	Standard	NM_030975		Approved	KAP9.9, KAP9.5	uc021txh.1	Q9BYP9	OTTHUMG00000133602	ENST00000394008.1:c.276C>T	17.37:g.39411913C>T			B5MDD6|Q9BYQ1	Silent	SNP	ENST00000394008.1	37	CCDS54127.1																																																																																				0.627	KRTAP9-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257710.1	NM_030975		T	39411913	C	T	39411913	2	4	734	1	0	0	0	0	0	0	0	1	8579	726	26	2		2	KRTAP9-9	17	39411913	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	421101	39411913	41783297	843	42262											
KRT15	3866	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	17	39673348	39673348	+	Missense_Mutation	SNP	C	C	T	rs147023381		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:39673348C>T	ENST00000254043.3	-	2	4153	c.568G>A	c.(568-570)Gac>Aac	p.D190N	KRT15_ENST00000393976.2_Missense_Mutation_p.D190N|KRT15_ENST00000393974.3_Intron|KRT15_ENST00000393981.3_Intron	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	190	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)				AGCCTGAAGTCGTCCGCAGCC	0.597																																																0								C	ASN/ASP	0,4406		0,0,2203	177	167	171		568	3.9	1	17	dbSNP_134	171	1,8599	1.2+/-3.3	0,1,4299	no	missense	KRT15	NM_002275.3	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	190/457	39673348	1,13005	2203	4300	6503	SO:0001583	missense	3866				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.568G>A	17.37:g.39673348C>T	ENSP00000254043:p.Asp190Asn		B3KQY1|B3KRA2|E0CX14|Q53XV8|Q9BUG4	Missense_Mutation	SNP	ENST00000254043.3	37	CCDS11398.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.728445	0.89390	0.0	1.16E-4	ENSG00000171346	ENST00000254043;ENST00000393976	D;D	0.89746	-2.56;-2.56	4.86	3.87	0.44632	Filament (1);	0.000000	0.52532	D	0.000076	D	0.95300	0.8475	M	0.92367	3.3	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95861	0.8883	10	0.87932	D	0	.	13.692	0.62550	0.0:0.9238:0.0:0.0762	.	190	P19012	K1C15_HUMAN	N	190	ENSP00000254043:D190N;ENSP00000377546:D190N	ENSP00000254043:D190N	D	-	1	0	KRT15	36926874	0.996000	0.38824	0.962000	0.40283	0.692000	0.40212	5.074000	0.64401	2.525000	0.85131	0.655000	0.94253	GAC		0.597	KRT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257301.1	NM_002275		T	39673348	C	T	39673348	3	4	734	1	0	0	0	0	1	0	0	0	8454	884	31	1	830	1	KRT15	17	39673348	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	261435	39673348	41521862	844	42263											
KIF18B	146909	broad.mit.edu;mdanderson.org	37	17	43004364	43004364	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:43004364C>T	ENST00000593135.1	-	14	2456	c.2359G>A	c.(2359-2361)Gtt>Att	p.V787I	KIF18B_ENST00000438933.2_Missense_Mutation_p.V799I|KIF18B_ENST00000339151.4_Missense_Mutation_p.V790I|KIF18B_ENST00000590129.1_Missense_Mutation_p.V808I|KIF18B_ENST00000587309.1_Missense_Mutation_p.V799I	NM_001265577.1	NP_001252506.1	Q86Y91	KI18B_HUMAN	kinesin family member 18B	799					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)	p.V799I(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				CACCTCGCAACGCGCTTCTTC	0.637																																																1	Substitution - Missense(1)	large_intestine(1)											33	36	35					17																	43004364		2033	4203	6236	SO:0001583	missense	146909				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.2359G>A	17.37:g.43004364C>T	ENSP00000465992:p.Val787Ile		A6NJI2|B7ZM49|B9EGM8|D5L6I1	Missense_Mutation	SNP	ENST00000593135.1	37	CCDS45709.2	.	.	.	.	.	.	.	.	.	.	C	7.843	0.722392	0.15439	.	.	ENSG00000186185	ENST00000438933;ENST00000339151;ENST00000376982	T;T	0.72615	-0.66;-0.67	4.94	-9.87	0.00470	.	.	.	.	.	T	0.44117	0.1278	N	0.16478	0.41	0.09310	N	1	B;B;B	0.10296	0.003;0.001;0.001	B;B;B	0.06405	0.001;0.002;0.001	T	0.29579	-1.0007	9	0.36615	T	0.2	.	4.9781	0.14151	0.0807:0.4484:0.343:0.1279	.	799;796;808	Q86Y91;Q86Y91-3;Q86Y91-2	KI18B_HUMAN;.;.	I	799;790;799	ENSP00000412798:V799I;ENSP00000341466:V790I	ENSP00000341466:V790I	V	-	1	0	KIF18B	40359890	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-4.657000	0.00202	-3.230000	0.00209	-1.004000	0.02495	GTT		0.637	KIF18B-001	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000448724.1	NM_001080443		T	43004364	C	T	43004364	3	4	734	1	0	0	0	0	1	0	0	0	8283	536	19	1	210	1	KIF18B	17	43004364	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	3331016	43004364	38190846	845	42264											
NOG	9241	broad.mit.edu;bcgsc.ca	37	17	54672235	54672235	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:54672235G>A	ENST00000332822.4	+	1	1176	c.651G>A	c.(649-651)tgG>tgA	p.W217*		NM_005450.4	NP_005441.1	Q13253	NOGG_HUMAN	noggin	217			W -> G (in SYNS1). {ECO:0000269|PubMed:10080184}.		axial mesoderm development (GO:0048318)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cell differentiation in hindbrain (GO:0021533)|cellular response to BMP stimulus (GO:0071773)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal joint morphogenesis (GO:0060272)|embryonic skeletal system development (GO:0048706)|endoderm formation (GO:0001706)|epithelial to mesenchymal transition (GO:0001837)|face morphogenesis (GO:0060325)|fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060825)|in utero embryonic development (GO:0001701)|limb development (GO:0060173)|lung morphogenesis (GO:0060425)|mesoderm formation (GO:0001707)|middle ear morphogenesis (GO:0042474)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell migration (GO:0030336)|negative regulation of cytokine activity (GO:0060302)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural plate morphogenesis (GO:0001839)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of glomerulus development (GO:0090193)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostatic bud formation (GO:0060513)|regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000313)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|somite development (GO:0061053)|spinal cord development (GO:0021510)|ureteric bud formation (GO:0060676)|wound healing (GO:0042060)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine binding (GO:0019955)|protein homodimerization activity (GO:0042803)			ovary(1)	1	Breast(9;5.24e-08)					GCTGCGGCTGGATTCCCATCC	0.682																																																0													15	16	16					17																	54672235		2198	4288	6486	SO:0001587	stop_gained	9241			U31202	CCDS11589.1	17q22	2006-04-25	2003-03-12		ENSG00000183691	ENSG00000183691			7866	protein-coding gene	gene with protein product		602991	"synostoses (multiple) syndrome 1", "symphalangism 1 (proximal)"	SYNS1, SYM1		7666191, 10080184, 11545688	Standard	NM_005450		Approved		uc002iup.2	Q13253	OTTHUMG00000151770	ENST00000332822.4:c.651G>A	17.37:g.54672235G>A	ENSP00000328181:p.Trp217*			Nonsense_Mutation	SNP	ENST00000332822.4	37	CCDS11589.1	.	.	.	.	.	.	.	.	.	.	G	41	8.622229	0.98888	.	.	ENSG00000183691	ENST00000332822	.	.	.	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.4384	17.712	0.88324	0.0:0.0:1.0:0.0	.	.	.	.	X	217	.	ENSP00000328181:W217X	W	+	3	0	NOG	52027234	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.550000	0.98110	2.418000	0.82041	0.561000	0.74099	TGG		0.682	NOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323857.1	NM_005450		A	54672235	G	A	54672235	4	1	734	1	0	0	0	0	0	1	0	0	10521	1183	41	2	653	2	NOG	17	54672235	Nonsense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	11667871	54672235	26522975	846	42265											
TRIM25	7706	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	17	54985879	54985879	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:54985879C>T	ENST00000316881.4	-	2	692	c.643G>A	c.(643-645)Ggg>Agg	p.G215R	TRIM25_ENST00000537230.1_Missense_Mutation_p.G215R	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN	tripartite motif containing 25	215	Interaction with influenza A virus NS1.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|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 ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)|response to estrogen (GO:0043627)|response to vitamin D (GO:0033280)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					CTCGACGCCCCGTTGATCTGA	0.582																																																0													149	107	121					17																	54985879		2203	4300	6503	SO:0001583	missense	7706			D21205	CCDS11591.1	17q23.1	2013-01-09	2011-01-25	2004-03-30				"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	12932	protein-coding gene	gene with protein product		600453	"zinc finger protein 147 (estrogen-responsive finger protein)", "tripartite motif-containing 25"	ZNF147		7789997	Standard	NM_005082		Approved	EFP, RNF147	uc002iut.3	Q14258		ENST00000316881.4:c.643G>A	17.37:g.54985879C>T	ENSP00000323889:p.Gly215Arg			Missense_Mutation	SNP	ENST00000316881.4	37	CCDS11591.1	.	.	.	.	.	.	.	.	.	.	C	9.289	1.050020	0.19827	.	.	ENSG00000121060	ENST00000316881;ENST00000537230	T;T	0.41065	1.01;1.01	4.38	4.38	0.52667	.	0.208574	0.33753	N	0.004600	T	0.29588	0.0738	L	0.41356	1.27	0.30299	N	0.789598	B	0.32829	0.386	B	0.20184	0.028	T	0.20009	-1.0288	10	0.27082	T	0.32	.	12.7546	0.57328	0.0:1.0:0.0:0.0	.	215	Q14258	TRI25_HUMAN	R	215	ENSP00000323889:G215R;ENSP00000445961:G215R	ENSP00000323889:G215R	G	-	1	0	TRIM25	52340878	0.146000	0.22672	0.563000	0.28383	0.539000	0.34962	2.313000	0.43735	2.706000	0.92434	0.655000	0.94253	GGG		0.582	TRIM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440609.1	NM_005082		T	54985879	C	T	54985879	3	4	734	1	0	0	0	0	1	0	0	0	16504	652	23	1	1281	1	TRIM25	17	54985879	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	313644	54985879	26209331	847	42266											
OR4D2	124538	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	17	56247381	56247381	+	Missense_Mutation	SNP	G	G	A	rs142058863	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:56247381G>A	ENST00000545221.1	+	1	365	c.365G>A	c.(364-366)cGc>cAc	p.R122H		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	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)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						GCCTTTGACCGCCTCATTGCC	0.562																																																1	Substitution - Missense(1)	stomach(1)						G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	83	81	81		365	3.7	0.6	17	dbSNP_134	81	3,8597	3.0+/-9.4	0,3,4297	yes	missense	OR4D2	NM_001004707.3	29	0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308	probably-damaging	122/308	56247381	4,13002	2203	4300	6503	SO:0001583	missense	124538				CCDS32688.1	17q22	2013-09-23			ENSG00000255713	ENSG00000255713		"GPCR / Class A : Olfactory receptors"	8294	protein-coding gene	gene with protein product							Standard	NM_001004707		Approved		uc010wnp.2	P58180	OTTHUMG00000178801	ENST00000545221.1:c.365G>A	17.37:g.56247381G>A	ENSP00000441354:p.Arg122His		Q6IFN8|Q96R75	Missense_Mutation	SNP	ENST00000545221.1	37	CCDS32688.1	.	.	.	.	.	.	.	.	.	.	G	11.28	1.592236	0.28357	2.27E-4	3.49E-4	ENSG00000255713	ENST00000545221	T	0.77489	-1.1	5.71	3.74	0.42951	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000034	T	0.76040	0.3932	M	0.86178	2.8	0.36718	D	0.881022	P	0.35684	0.515	B	0.27715	0.082	T	0.80400	-0.1398	10	0.87932	D	0	-26.1465	10.7946	0.46453	0.1547:0.0:0.8453:0.0	.	122	P58180	OR4D2_HUMAN	H	122	ENSP00000441354:R122H	ENSP00000441354:R122H	R	+	2	0	OR4D2	53602380	1.000000	0.71417	0.567000	0.28434	0.094000	0.18550	7.976000	0.88070	0.899000	0.36444	-0.166000	0.13349	CGC		0.562	OR4D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443366.1			A	56247381	G	A	56247381	3	1	734	1	0	0	0	0	1	0	0	0	11058	1087	38	1	367	1	OR4D2	17	56247381	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1261502	56247381	24947829	848	42267											
OR4D2	124538	broad.mit.edu;bcgsc.ca	37	17	56247407	56247407	+	Missense_Mutation	SNP	C	C	T	rs370339516		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:56247407C>T	ENST00000545221.1	+	1	391	c.391C>T	c.(391-393)Cgc>Tgc	p.R131C		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	131						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(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						CCGGCCCCTCCGCTATGTCAC	0.567																																																0								C	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	84	84	84		391	5.7	1	17		84	0,8600		0,0,4300	no	missense	OR4D2	NM_001004707.3	180	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	131/308	56247407	2,13004	2203	4300	6503	SO:0001583	missense	124538				CCDS32688.1	17q22	2013-09-23			ENSG00000255713	ENSG00000255713		"GPCR / Class A : Olfactory receptors"	8294	protein-coding gene	gene with protein product							Standard	NM_001004707		Approved		uc010wnp.2	P58180	OTTHUMG00000178801	ENST00000545221.1:c.391C>T	17.37:g.56247407C>T	ENSP00000441354:p.Arg131Cys		Q6IFN8|Q96R75	Missense_Mutation	SNP	ENST00000545221.1	37	CCDS32688.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.810088	0.90707	4.54E-4	0.0	ENSG00000255713	ENST00000545221	T	0.00922	5.54	5.71	5.71	0.89125	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000021	T	0.03053	0.0090	L	0.59436	1.845	0.43787	D	0.996324	D	0.65815	0.995	P	0.52343	0.696	T	0.50056	-0.8872	10	0.87932	D	0	-22.3682	17.7075	0.88312	0.0:1.0:0.0:0.0	.	131	P58180	OR4D2_HUMAN	C	131	ENSP00000441354:R131C	ENSP00000441354:R131C	R	+	1	0	OR4D2	53602406	0.086000	0.21541	1.000000	0.80357	0.944000	0.59088	3.329000	0.52060	2.860000	0.98153	0.609000	0.83330	CGC		0.567	OR4D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443366.1			T	56247407	C	T	56247407	3	4	734	1	0	0	0	0	1	0	0	0	11058	652	23	1	393	1	OR4D2	17	56247407	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	26	56247407	24947803	849	42268											
MKS1	54903	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	17	56290442	56290442	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:56290442C>T	ENST00000393119.2	-	8	833	c.759G>A	c.(757-759)acG>acA	p.T253T	MKS1_ENST00000337050.7_Silent_p.T253T|MKS1_ENST00000313863.6_Silent_p.T253T|MKS1_ENST00000546108.1_Silent_p.T50T|MKS1_ENST00000537529.2_Silent_p.T243T	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	253					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						TCTCCCCCTCCGTCTCAATCC	0.562																																																0													70	72	71					17																	56290442		1937	4138	6075	SO:0001819	synonymous_variant	54903			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.759G>A	17.37:g.56290442C>T			B7WNX4|F5H885|Q284T0|Q96G13	Silent	SNP	ENST00000393119.2	37	CCDS11603.2	.	.	.	.	.	.	.	.	.	.	C	1.361	-0.588849	0.03799	.	.	ENSG00000011143	ENST00000313863	.	.	.	5.69	-11.4	0.00090	.	.	.	.	.	T	0.30572	0.0769	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38672	-0.9650	4	.	.	.	-24.1711	1.1885	0.01860	0.2967:0.3287:0.1524:0.2222	.	.	.	.	Q	254	.	.	R	-	2	0	MKS1	53645441	0.000000	0.05858	0.404000	0.26397	0.178000	0.23041	-2.189000	0.01248	-2.371000	0.00602	-0.311000	0.09066	CGG		0.562	MKS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258015.2	NM_017777		T	56290442	C	T	56290442	2	4	734	1	0	0	0	0	0	0	0	1	9611	639	23	1		1	MKS1	17	56290442	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	43035	56290442	24904768	850	42269											
SEPT4	5414	ucsc.edu;bcgsc.ca	37	17	56599003	56599003	+	Missense_Mutation	SNP	C	C	T	rs533106066		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:56599003C>T	ENST00000317268.3	-	8	1096	c.920G>A	c.(919-921)cGg>cAg	p.R307Q	SEPT4_ENST00000412945.3_Missense_Mutation_p.R299Q|SEPT4_ENST00000580844.1_Missense_Mutation_p.R208Q|SEPT4_ENST00000317256.6_Missense_Mutation_p.R288Q|SEPT4_ENST00000457347.2_Missense_Mutation_p.R322Q|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000580809.1_3'UTR|SEPT4_ENST00000579371.1_Missense_Mutation_p.R208Q|SEPT4_ENST00000583114.1_Missense_Mutation_p.R160Q|SEPT4_ENST00000393086.1_Missense_Mutation_p.R288Q|SEPT4_ENST00000426861.1_3'UTR	NM_004574.3	NP_004565.1	O43236	SEPT4_HUMAN	septin 4	307	Septin-type G.				apoptotic process (GO:0006915)|brain development (GO:0007420)|cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of protein ubiquitination (GO:0031398)|regulation of apoptotic process (GO:0042981)|sperm capacitation (GO:0048240)|sperm mitochondrion organization (GO:0030382)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm annulus (GO:0097227)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AATCTCCTCCCGGATCTGACA	0.512													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19676	0.0		0.0	False		,,,				2504	0.0															0													111	107	108					17																	56599003		2203	4300	6503	SO:0001583	missense	5414			AF073312	CCDS11609.1, CCDS11610.1, CCDS45743.1, CCDS56041.1, CCDS58581.1, CCDS58582.1	17q22	2013-01-21	2005-01-11	2005-01-12	ENSG00000108387	ENSG00000108387		"Septins"	9165	protein-coding gene	gene with protein product	"bradeoin", "septin-M"	603696	"peanut-like 2 (Drosophila)"	PNUTL2		9889007	Standard	NM_001198713		Approved	H5, CE5B3, hucep-7, ARTS, hCDCREL-2, MART	uc002iwm.2	O43236		ENST00000317268.3:c.920G>A	17.37:g.56599003C>T	ENSP00000321674:p.Arg307Gln		B2RD42|B3KSX9|B4DXC6|B4DXV5|Q6IAP3|Q9H315|Q9UM58	Missense_Mutation	SNP	ENST00000317268.3	37	CCDS11610.1	.	.	.	.	.	.	.	.	.	.	C	12.46	1.945750	0.34377	.	.	ENSG00000108387	ENST00000412945;ENST00000457347;ENST00000317256;ENST00000317268;ENST00000393086	T;T;T;T	0.33865	1.39;1.39;1.39;1.39	5.59	5.59	0.84812	.	0.061554	0.64402	D	0.000005	T	0.53351	0.1791	L	0.46567	1.45	0.54753	D	0.999987	P;D;P;P;P	0.89917	0.882;1.0;0.941;0.497;0.952	B;D;B;B;P	0.67382	0.212;0.951;0.358;0.118;0.49	T	0.52238	-0.8602	10	0.62326	D	0.03	.	17.0726	0.86578	0.0:1.0:0.0:0.0	.	299;322;288;160;307	O43236-3;O43236-4;O43236-2;O43236-5;O43236	.;.;.;.;SEPT4_HUMAN	Q	299;321;288;307;288	ENSP00000414779:R299Q;ENSP00000321071:R288Q;ENSP00000321674:R307Q;ENSP00000376801:R288Q	ENSP00000321071:R288Q	R	-	2	0	SEPT4	53954002	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	6.077000	0.71275	2.619000	0.88677	0.557000	0.71058	CGG		0.512	SEPT4-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445420.1	NM_080417		T	56599003	C	T	56599003	3	4	734	1	0	0	0	0	1	0	0	0	14072	652	23	1	536	1	SEPT4	17	56599003	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	308561	56599003	24596207	851	42270											
BCAS3	54828	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	17	59445725	59445725	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:59445725C>T	ENST00000390652.5	+	24	2539	c.2508C>T	c.(2506-2508)tgC>tgT	p.C836C	BCAS3_ENST00000585812.1_3'UTR|BCAS3_ENST00000407086.3_Silent_p.C821C|BCAS3_ENST00000588874.1_Silent_p.C592C|RP11-332H18.5_ENST00000585765.1_RNA|BCAS3_ENST00000408905.3_Silent_p.C821C|BCAS3_ENST00000585744.1_Silent_p.C607C|BCAS3_ENST00000588462.1_Silent_p.C836C|BCAS3_ENST00000589222.1_Silent_p.C821C	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)			TGGAGGTGTGCGGGAGCTGGC	0.642																																																0													78	89	85					17																	59445725		2139	4247	6386	SO:0001819	synonymous_variant	54828			AF361219	CCDS11626.1, CCDS45749.1	17q23.2	2013-06-25			ENSG00000141376	ENSG00000141376		"WD repeat domain containing"	14347	protein-coding gene	gene with protein product		607470				12378525	Standard	NM_017679		Approved	FLJ20128	uc002iyv.4	Q9H6U6	OTTHUMG00000180064	ENST00000390652.5:c.2508C>T	17.37:g.59445725C>T				Silent	SNP	ENST00000390652.5	37	CCDS45749.1																																																																																				0.642	BCAS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449578.1	NM_017679		T	59445725	C	T	59445725	2	4	734	1	0	0	0	0	0	0	0	1	1352	776	27	1		1	BCAS3	17	59445725	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	2846722	59445725	21749485	852	42271											
TANC2	26115	broad.mit.edu	37	17	61497780	61497780	+	Silent	SNP	A	A	G	rs200208895		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:61497780A>G	ENST00000424789.2	+	25	4441	c.4437A>G	c.(4435-4437)agA>agG	p.R1479R	TANC2_ENST00000389520.4_Silent_p.R1489R|RP11-269G24.3_ENST00000583552.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1479					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						CTCCCACTAGACAGACCTATC	0.552																																																0								A		0,4060		0,0,2030	105	105	105		4437	-1.6	1	17		105	2,8370		0,2,4184	no	coding-synonymous	TANC2	NM_025185.3		0,2,6214	GG,GA,AA		0.0239,0.0,0.0161		1479/1991	61497780	2,12430	2030	4186	6216	SO:0001819	synonymous_variant	26115			AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30212	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.4437A>G	17.37:g.61497780A>G			Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Silent	SNP	ENST00000424789.2	37	CCDS45754.1																																																																																				0.552	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1			G	61497780	A	G	61497780	2	3	734	1	0	0	0	0	0	0	0	1	15550	272	10	3		3	TANC2	17	61497780	Silent	SNP	A	TCGA-KN-8428-01A-11D-2310-10	2052055	61497780	19697430	853	42272											
TEX2	55852	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	17	62291323	62291323	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:62291323G>A	ENST00000583097.1	-	2	427	c.255C>T	c.(253-255)ccC>ccT	p.P85P	TEX2_ENST00000584379.1_Silent_p.P85P|TEX2_ENST00000258991.3_Silent_p.P85P			Q8IWB9	TEX2_HUMAN	testis expressed 2	85					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)		CAGGGCCGGCGGGGTCATGGC	0.577																																																0													144	144	144					17																	62291323		2203	4300	6503	SO:0001819	synonymous_variant	55852			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.255C>T	17.37:g.62291323G>A			Q6AHZ5|Q8N3L0|Q9C0C5	Silent	SNP	ENST00000583097.1	37																																																																																					0.577	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	NM_018469		A	62291323	G	A	62291323	2	1	734	1	0	0	0	0	0	0	0	1	15786	1103	39	1		1	TEX2	17	62291323	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	793543	62291323	18903887	854	42273											
HELZ	9931	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	17	65134098	65134098	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:65134098G>A	ENST00000358691.5	-	22	3068	c.2902C>T	c.(2902-2904)Cga>Tga	p.R968*	HELZ_ENST00000580168.1_Nonsense_Mutation_p.R969*	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	968						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)					CTCTTTTTTCGAAGTTCAGCA	0.378																																																0													202	205	204					17																	65134098		2079	4211	6290	SO:0001587	stop_gained	9931			D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"Zinc fingers, CCCH-type domain containing"	16878	protein-coding gene	gene with protein product	"down-regulated in human cancers"	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.2902C>T	17.37:g.65134098G>A	ENSP00000351524:p.Arg968*		I6L9H4	Nonsense_Mutation	SNP	ENST00000358691.5	37	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	G	43	9.825446	0.99273	.	.	ENSG00000198265	ENST00000358691	.	.	.	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.5631	18.8583	0.92262	0.0:0.0:1.0:0.0	.	.	.	.	X	968	.	ENSP00000351524:R968X	R	-	1	2	HELZ	62564560	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	9.476000	0.97823	2.437000	0.82529	0.655000	0.94253	CGA		0.378	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		A	65134098	G	A	65134098	4	1	734	1	0	0	0	0	0	1	0	0	7051	1066	37	1	2974	1	HELZ	17	65134098	Nonsense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	2842775	65134098	16061112	855	42274											
KIF19	124602	mdanderson.org	37	17	72350412	72350412	+	Missense_Mutation	SNP	G	G	A	rs2271535	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:72350412G>A	ENST00000389916.4	+	18	2558	c.2420G>A	c.(2419-2421)cGc>cAc	p.R807H	AC103809.2_ENST00000599136.1_5'Flank	NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	807			R -> H (in dbSNP:rs2271535).		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						GCGACAGAGCGCAGCAGCCTG	0.711													G|||	1718	0.343051	0.0756	0.4207	5008	,	,		13893	0.4008		0.4712	False		,,,				2504	0.4581															0								G	HIS/ARG	571,3475		68,435,1520	16	22	20		2420	1.8	1	17	dbSNP_100	20	3907,4455		949,2009,1223	yes	missense	KIF19	NM_153209.3	29	1017,2444,2743	AA,AG,GG		46.7233,14.1127,36.0896	possibly-damaging	807/999	72350412	4478,7930	2023	4181	6204	SO:0001583	missense	124602			AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"Kinesins"	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.2420G>A	17.37:g.72350412G>A	ENSP00000374566:p.Arg807His		A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Missense_Mutation	SNP	ENST00000389916.4	37	CCDS32718.2	790	0.3617216117216117	40	0.08130081300813008	149	0.4116022099447514	242	0.4230769230769231	359	0.4736147757255937	G	12.77	2.036734	0.35893	0.141127	0.467233	ENSG00000196169	ENST00000389916	T	0.71817	-0.6	5.06	1.78	0.24846	.	.	.	.	.	T	0.00012	0.0000	L	0.54323	1.7	0.41050	P	0.014703000000000022	B	0.13594	0.008	B	0.06405	0.002	T	0.38351	-0.9665	8	0.37606	T	0.19	.	6.784	0.23664	0.2165:0.2365:0.547:0.0	rs2271535;rs58995647	807	Q2TAC6	KIF19_HUMAN	H	807	ENSP00000374566:R807H	ENSP00000374566:R807H	R	+	2	0	KIF19	69862007	1.000000	0.71417	0.967000	0.41034	0.417000	0.31264	1.286000	0.33273	1.141000	0.42275	0.556000	0.70494	CGC		0.711	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209		A	72350412	G	A	72350412	3	1	734	1	0	0	0	0	1	0	0	0	8284	1087	38	1	2490	1	KIF19	17	72350412	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	7216314	72350412	8844798	856	42275											
RECQL5	9400	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	17	73626346	73626346	+	Missense_Mutation	SNP	C	C	T	rs199975622		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:73626346C>T	ENST00000317905.5	-	14	1889	c.1730G>A	c.(1729-1731)cGg>cAg	p.R577Q	RECQL5_ENST00000423245.2_Missense_Mutation_p.R550Q|RECQL5_ENST00000443199.2_5'UTR	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	577	Interaction with POLR2A.				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)			GGCCTTGGCCCGGAGGTCAGC	0.632								Other identified genes with known or suspected DNA repair function					C|||	1	0.000199681	0.0008	0.0	5008	,	,		20052	0.0		0.0	False		,,,				2504	0.0															0								C	GLN/ARG	1,4217		0,1,2108	37	39	38		1730	-0.9	0.3	17		38	3,8465		0,3,4231	yes	missense	RECQL5	NM_004259.6	43	0,4,6339	TT,TC,CC		0.0354,0.0237,0.0315	benign	577/992	73626346	4,12682	2109	4234	6343	SO:0001583	missense	9400			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.1730G>A	17.37:g.73626346C>T	ENSP00000317636:p.Arg577Gln		Q9H0B1|Q9P1W7|Q9UNC8	Missense_Mutation	SNP	ENST00000317905.5	37	CCDS42380.1	.	.	.	.	.	.	.	.	.	.	C	10.88	1.474567	0.26511	2.37E-4	3.54E-4	ENSG00000108469	ENST00000443199;ENST00000423245;ENST00000317905	T	0.54866	0.55	5.39	-0.855	0.10700	.	0.552264	0.18297	N	0.145543	T	0.11580	0.0282	N	0.00246	-1.78	0.09310	N	0.999996	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.27640	-1.0068	10	0.15499	T	0.54	-0.663	1.7148	0.02899	0.1404:0.319:0.1278:0.4129	.	577;550	O94762;Q6P4G0	RECQ5_HUMAN;.	Q	172;577;577	ENSP00000317636:R577Q	ENSP00000317636:R577Q	R	-	2	0	RECQL5	71137941	0.002000	0.14202	0.343000	0.25615	0.582000	0.36321	-0.443000	0.06862	-0.506000	0.06558	-0.302000	0.09304	CGG		0.632	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448207.1	NM_004259		T	73626346	C	T	73626346	3	4	734	1	0	0	0	0	1	0	0	0	13209	652	23	1	1273	1	RECQL5	17	73626346	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1275934	73626346	7568864	857	42276											
RNF157	114804	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	17	74157965	74157965	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:74157965G>A	ENST00000269391.6	-	10	1043	c.911C>T	c.(910-912)aCg>aTg	p.T304M	RNF157_ENST00000319945.6_Missense_Mutation_p.T304M	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	304							zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			GTAGCGCAGCGTGTCTGCACA	0.602																																					GBM(186;507 2120 27388 27773 52994)											0													132	117	122					17																	74157965		2203	4300	6503	SO:0001583	missense	114804			AK091467	CCDS32740.1	17q25.3	2004-02-27			ENSG00000141576	ENSG00000141576		"RING-type (C3HC4) zinc fingers"	29402	protein-coding gene	gene with protein product						11572484	Standard	NM_052916		Approved	KIAA1917	uc002jqz.3	Q96PX1	OTTHUMG00000132627	ENST00000269391.6:c.911C>T	17.37:g.74157965G>A	ENSP00000269391:p.Thr304Met		Q8NB72|Q96N56	Missense_Mutation	SNP	ENST00000269391.6	37	CCDS32740.1	.	.	.	.	.	.	.	.	.	.	G	32	5.168123	0.94768	.	.	ENSG00000141576	ENST00000269391;ENST00000319945;ENST00000301610	T;T	0.67345	-0.26;-0.26	5.49	5.49	0.81192	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.000000	0.85682	D	0.000000	T	0.74313	0.3700	L	0.28274	0.84	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.985	T	0.77313	-0.2634	10	0.72032	D	0.01	-33.4353	19.3674	0.94469	0.0:0.0:1.0:0.0	.	304;304	Q96PX1-2;Q96PX1	.;RN157_HUMAN	M	304;304;266	ENSP00000269391:T304M;ENSP00000321837:T304M	ENSP00000269391:T304M	T	-	2	0	RNF157	71669560	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.577000	0.86979	0.655000	0.94253	ACG		0.602	RNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255874.2	XM_290732		A	74157965	G	A	74157965	3	1	734	1	0	0	0	0	1	0	0	0	13460	1145	40	1	1168	1	RNF157	17	74157965	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	531619	74157965	7037245	858	42277											
MGAT5B	146664	broad.mit.edu;bcgsc.ca	37	17	74901299	74901299	+	Missense_Mutation	SNP	G	G	A	rs199861646		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:74901299G>A	ENST00000569840.2	+	7	1313	c.739G>A	c.(739-741)Ggg>Agg	p.G247R	MGAT5B_ENST00000374998.3_3'UTR|MGAT5B_ENST00000428789.2_Missense_Mutation_p.G258R|MGAT5B_ENST00000301618.4_Missense_Mutation_p.G247R	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	247					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						GATGGGCAGCGGGAAGGAGTC	0.637																																																0													40	44	42					17																	74901299		2203	4300	6503	SO:0001583	missense	146664			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.739G>A	17.37:g.74901299G>A	ENSP00000456037:p.Gly247Arg		Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Missense_Mutation	SNP	ENST00000569840.2	37	CCDS59299.1	.	.	.	.	.	.	.	.	.	.	G	18.95	3.732689	0.69189	.	.	ENSG00000167889	ENST00000374998;ENST00000301618;ENST00000428789	T;T	0.44083	0.94;0.93	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.60077	0.2241	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.53774	-0.8391	10	0.12430	T	0.62	-47.5883	17.7669	0.88481	0.0:0.0:1.0:0.0	.	258;247	Q3V5L5-2;Q3V5L5-5	.;.	R	247;247;258	ENSP00000301618:G247R;ENSP00000391227:G258R	ENSP00000301618:G247R	G	+	1	0	MGAT5B	72412894	1.000000	0.71417	0.997000	0.53966	0.957000	0.61999	8.893000	0.92498	2.416000	0.81992	0.514000	0.50259	GGG		0.637	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460624.2	NM_144677		A	74901299	G	A	74901299	3	1	734	1	0	0	0	0	1	0	0	0	9551	1116	39	1	866	1	MGAT5B	17	74901299	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	743334	74901299	6293911	859	42278											
SEPT9	10801	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	17	75471796	75471796	+	Intron	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:75471796C>T	ENST00000427177.1	+	4	847				SEPT9_ENST00000585930.1_Intron|SEPT9_ENST00000592420.1_Intron|RP11-75C10.9_ENST00000591110.1_RNA|SEPT9_ENST00000591198.1_Intron|SEPT9_ENST00000449803.2_Intron|SEPT9_ENST00000329047.8_Intron|SEPT9_ENST00000592481.1_Intron|SEPT9_ENST00000423034.2_Intron|SEPT9_ENST00000541152.2_Intron|SEPT9_ENST00000427674.2_Intron|SEPT9_ENST00000592951.1_Intron|SEPT9_ENST00000588690.1_Intron|SEPT9_ENST00000590917.1_Intron|SEPT9_ENST00000591088.1_Intron|SEPT9_ENST00000431235.2_Intron|SEPT9_ENST00000590294.1_Intron|SEPT9_ENST00000427180.1_Missense_Mutation_p.R66C	NM_001113491.1	NP_001106963.1	Q9UHD8	SEPT9_HUMAN	septin 9						cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|protein heterooligomerization (GO:0051291)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|stress fiber (GO:0001725)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			AGGAAGTCTTCGCCGGGGCAA	0.652																																																0													39	41	41					17																	75471796		1568	3582	5150	SO:0001627	intron_variant	10801			AB023208	CCDS45790.1, CCDS45791.1, CCDS45792.1, CCDS45793.1, CCDS45794.1, CCDS45795.1, CCDS74166.1	17q25.3	2014-09-17	2005-01-11	2005-01-12	ENSG00000184640	ENSG00000184640		"Septins"	7323	protein-coding gene	gene with protein product	"Ov/Br septin"	604061	"MLL septin-like fusion"	MSF		10339604, 10485469	Standard	NM_006640		Approved	MSF1, KIAA0991, PNUTL4, AF17q25, SeptD1	uc002jts.4	Q9UHD8		ENST00000427177.1:c.722-6430C>T	17.37:g.75471796C>T			A8K2V3|B3KPM0|B4DTL9|B4E0N2|B4E274|B7Z654|Q96QF3|Q96QF4|Q96QF5|Q9HA04|Q9UG40|Q9Y5W4	Missense_Mutation	SNP	ENST00000427177.1	37	CCDS45790.1	.	.	.	.	.	.	.	.	.	.	C	8.511	0.866491	0.17250	.	.	ENSG00000184640	ENST00000427180	T	0.54675	0.56	1.35	-0.966	0.10320	.	.	.	.	.	T	0.35008	0.0917	.	.	.	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.30179	-0.9987	8	0.72032	D	0.01	.	2.6267	0.04931	0.0:0.4635:0.3143:0.2222	.	66	Q9UHD8-8	.	C	66	ENSP00000415624:R66C	ENSP00000415624:R66C	R	+	1	0	SEPT9	72983391	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.942000	0.03921	-0.256000	0.09473	0.297000	0.19635	CGC		0.652	SEPT9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000436304.2	NM_006640		T	75471796	C	T	75471796	1	4	734	0	1	0	0	0	0	0	0	0	14077	884	31	1		1	SEPT9	17	75471796	Intron	SNP	C	TCGA-KN-8428-01A-11D-2310-10	570497	75471796	5723414	860	42279											
TNRC6C	57690	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	17	76071339	76071339	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:76071339C>T	ENST00000588061.1	+	10	3767	c.3040C>T	c.(3040-3042)Cgc>Tgc	p.R1014C	TNRC6C_ENST00000544502.1_Missense_Mutation_p.R1011C|TNRC6C_ENST00000301624.4_Missense_Mutation_p.R1014C|TNRC6C_ENST00000335749.4_Missense_Mutation_p.R1011C|TNRC6C_ENST00000541771.1_Missense_Mutation_p.R1014C|TNRC6C_ENST00000588847.1_Missense_Mutation_p.R1011C			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1014					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)			TTCCGTGGACCGCCCCACCTT	0.507																																																0													18	20	19					17																	76071339		1866	4088	5954	SO:0001583	missense	57690			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.3040C>T	17.37:g.76071339C>T	ENSP00000468647:p.Arg1014Cys		G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Missense_Mutation	SNP	ENST00000588061.1	37	CCDS45798.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.875961	0.91664	.	.	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	T;T;T;T	0.17691	2.27;2.26;2.26;2.27	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.41096	0.1144	L	0.55481	1.735	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.996	T	0.03184	-1.1063	10	0.54805	T	0.06	-13.682	20.1707	0.98158	0.0:1.0:0.0:0.0	.	1011;1014;1014	G3XAB8;Q9HCJ0-2;Q9HCJ0	.;.;TNR6C_HUMAN	C	1014;1011;1011;1014;1014;1011	ENSP00000336783:R1011C;ENSP00000301624:R1014C;ENSP00000440310:R1014C;ENSP00000442421:R1011C	ENSP00000301624:R1014C	R	+	1	0	TNRC6C	73582934	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.226000	0.65299	2.773000	0.95371	0.655000	0.94253	CGC		0.507	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996		T	76071339	C	T	76071339	3	4	734	1	0	0	0	0	1	0	0	0	16347	652	23	1	3062	1	TNRC6C	17	76071339	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	599543	76071339	5123871	861	42280											
RNF213	57674	hgsc.bcm.edu;mdanderson.org	37	17	78318717	78318717	+	Silent	SNP	G	G	A	rs140158248	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:78318717G>A	ENST00000582970.1	+	29	6725	c.6582G>A	c.(6580-6582)ccG>ccA	p.P2194P	RNF213_ENST00000508628.2_Silent_p.P2243P|RNF213_ENST00000336301.6_Silent_p.P267P	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2194					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AAGGCACCCCGGAGGAATGCC	0.473													G|||	11	0.00219649	0.0076	0.0	5008	,	,		21249	0.001		0.0	False		,,,				2504	0.0															0								G		28,4378	34.3+/-65.2	0,28,2175	93	94	94		6729	-11.1	0	17	dbSNP_134	94	0,8600		0,0,4300	no	coding-synonymous	RNF213	NM_020914.4		0,28,6475	AA,AG,GG		0.0,0.6355,0.2153		2243/5257	78318717	28,12978	2203	4300	6503	SO:0001819	synonymous_variant	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.6582G>A	17.37:g.78318717G>A			C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	37	CCDS58606.1																																																																																				0.473	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		A	78318717	G	A	78318717	2	1	734	1	0	0	0	0	0	0	0	1	13483	1103	39	1		1	RNF213	17	78318717	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	2247378	78318717	2876493	862	42281											
RNF213	57674	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	17	78320904	78320904	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:78320904C>T	ENST00000582970.1	+	29	8912	c.8769C>T	c.(8767-8769)ctC>ctT	p.L2923L	RNF213_ENST00000508628.2_Silent_p.L2972L|RNF213_ENST00000336301.6_Silent_p.L996L	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2923					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CAGACATCCTCGTCCAGGACC	0.557																																																0													60	53	55					17																	78320904		2203	4300	6503	SO:0001819	synonymous_variant	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.8769C>T	17.37:g.78320904C>T			C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	37	CCDS58606.1																																																																																				0.557	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		T	78320904	C	T	78320904	2	4	734	1	0	0	0	0	0	0	0	1	13483	871	31	1		1	RNF213	17	78320904	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	2187	78320904	2874306	863	42282											
C17orf56	146705	broad.mit.edu;mdanderson.org	37	17	79203107	79203107	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:79203107G>A	ENST00000300714.3	-	12	1256	c.1199C>T	c.(1198-1200)tCg>tTg	p.S400L	ENTHD2_ENST00000374769.2_Missense_Mutation_p.S316L|AC027601.1_ENST00000569559.1_RNA|AC027601.1_ENST00000575922.1_RNA	NM_144679.2	NP_653280.1	Q96N21	AP4AT_HUMAN	ENTH domain containing 2	400	Pro-rich.					cytoplasmic vesicle (GO:0031410)											GCTCCGGGACGAGACCGGGGT	0.697																																																0													12	10	11					17																	79203107		2186	4284	6470	SO:0001583	missense	146705			AK056090	CCDS11779.1	17q25.3	2012-07-18	2012-07-18	2012-07-18	ENSG00000167302	ENSG00000167302			26458	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 56"	C17orf56			Standard	NM_144679		Approved	FLJ31528	uc002jzu.2	Q96N21	OTTHUMG00000177866	ENST00000300714.3:c.1199C>T	17.37:g.79203107G>A	ENSP00000300714:p.Ser400Leu		Q6ZQU0|Q6ZSQ9	Missense_Mutation	SNP	ENST00000300714.3	37	CCDS11779.1	.	.	.	.	.	.	.	.	.	.	G	4.727	0.135111	0.09032	.	.	ENSG00000167302	ENST00000300714;ENST00000374769	T;T	0.63255	-0.03;-0.03	4.31	-5.6	0.02497	.	.	.	.	.	T	0.33030	0.0849	N	0.16478	0.41	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.04013	0.001;0.001	T	0.39563	-0.9608	9	0.02654	T	1	2.2347	6.7078	0.23260	0.6036:0.0:0.2796:0.1168	.	400;316	Q96N21;Q96N21-2	CQ056_HUMAN;.	L	400;316	ENSP00000300714:S400L;ENSP00000363901:S316L	ENSP00000300714:S400L	S	-	2	0	C17orf56	76817702	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.483000	0.06536	-1.170000	0.02769	-0.373000	0.07131	TCG		0.697	ENTHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439315.1	NM_144679		A	79203107	G	A	79203107	3	1	734	1	0	0	0	0	1	0	0	0	1866	1059	37	1	382	1	C17orf56	17	79203107	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	882203	79203107	1992103	864	42283											
SLC38A10	124565	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	17	79226231	79226231	+	Missense_Mutation	SNP	G	G	A	rs376751634		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:79226231G>A	ENST00000374759.3	-	13	2092	c.1709C>T	c.(1708-1710)gCg>gTg	p.A570V	SLC38A10_ENST00000288439.5_Missense_Mutation_p.A570V	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	570					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)			AAGATCACCCGCCTCCTCCAA	0.622																																																0									VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	47	53	51		1709,1709	-4.2	0	17		51	0,8600		0,0,4300	no	missense,missense	SLC38A10	NM_001037984.1,NM_138570.2	64,64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	570/1120,570/781	79226231	1,13005	2203	4300	6503	SO:0001583	missense	124565			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.1709C>T	17.37:g.79226231G>A	ENSP00000363891:p.Ala570Val		Q6ZRC5|Q8NA99|Q96C66	Missense_Mutation	SNP	ENST00000374759.3	37	CCDS42397.1	.	.	.	.	.	.	.	.	.	.	G	4.717	0.133407	0.09032	2.27E-4	0.0	ENSG00000157637	ENST00000374759;ENST00000288439	T;T	0.09630	3.21;2.96	3.57	-4.19	0.03835	.	1376.610000	0.00166	N	0.000000	T	0.06325	0.0163	N	0.11255	0.115	0.09310	N	1	B;B	0.11235	0.004;0.002	B;B	0.06405	0.002;0.001	T	0.34725	-0.9817	10	0.22109	T	0.4	-0.1859	10.2033	0.43099	0.5972:0.0:0.4028:0.0	.	570;570	Q9HBR0-2;Q9HBR0	.;S38AA_HUMAN	V	570	ENSP00000363891:A570V;ENSP00000288439:A570V	ENSP00000288439:A570V	A	-	2	0	SLC38A10	76840826	0.000000	0.05858	0.000000	0.03702	0.067000	0.16453	-0.578000	0.05841	-0.783000	0.04534	-0.760000	0.03462	GCG		0.622	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397747.1	NM_138570		A	79226231	G	A	79226231	3	1	734	1	0	0	0	0	1	0	0	0	14608	1087	38	1	1944	1	SLC38A10	17	79226231	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	23124	79226231	1968979	865	42284											
C17orf70	80233	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	17	79512906	79512906	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:79512906C>T	ENST00000327787.8	-	6	2222	c.2176G>A	c.(2176-2178)Gtg>Atg	p.V726M	C17orf70_ENST00000537152.1_Missense_Mutation_p.V575M|C17orf70_ENST00000425898.2_Missense_Mutation_p.V375M			Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	726					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)			CACAGGGGCACGCCTGGAGGG	0.642																																																0													39	31	34					17																	79512906		2199	4300	6499	SO:0001583	missense	80233			BC008883	CCDS32765.1, CCDS32765.2	17q25.3	2012-05-30			ENSG00000185504	ENSG00000185504			26171	protein-coding gene	gene with protein product	"Fanconi anemia-associated protein, 100kDa"	611301				17396147	Standard	NM_025161		Approved	FLJ22175, FAAP100	uc002kaq.3	Q0VG06	OTTHUMG00000167764	ENST00000327787.8:c.2176G>A	17.37:g.79512906C>T	ENSP00000333283:p.Val726Met		A6NNM1|Q8N3F7|Q9BV13|Q9H6K7|Q9H7E8	Missense_Mutation	SNP	ENST00000327787.8	37	CCDS32765.2	.	.	.	.	.	.	.	.	.	.	C	15.77	2.930341	0.52866	.	.	ENSG00000185504	ENST00000327787;ENST00000425898;ENST00000361039;ENST00000537152	T;T;T	0.35421	1.31;1.31;1.31	4.41	-1.67	0.08238	.	1.397600	0.05224	N	0.509143	T	0.32010	0.0815	L	0.44542	1.39	0.09310	N	1	D;D	0.57571	0.98;0.98	B;P	0.48598	0.407;0.583	T	0.19877	-1.0292	10	0.39692	T	0.17	-4.1034	1.4826	0.02440	0.1482:0.4547:0.136:0.2612	.	726;375	Q0VG06;E7EVV8	FP100_HUMAN;.	M	726;375;99;575	ENSP00000333283:V726M;ENSP00000399674:V375M;ENSP00000440151:V575M	ENSP00000333283:V726M	V	-	1	0	C17orf70	77123359	0.000000	0.05858	0.000000	0.03702	0.242000	0.25591	-0.558000	0.05978	-0.283000	0.09115	-0.304000	0.09214	GTG		0.642	C17orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396170.1	NM_025161		T	79512906	C	T	79512906	3	4	734	1	0	0	0	0	1	0	0	0	1879	536	19	1	485	1	C17orf70	17	79512906	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	286675	79512906	1682304	866	42285											
HGS	9146	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	17	79663491	79663491	+	Missense_Mutation	SNP	G	G	A	rs567318549		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:79663491G>A	ENST00000329138.4	+	16	1633	c.1498G>A	c.(1498-1500)Gag>Aag	p.E500K		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	500	Interaction with NF2.|Interaction with SNAP25 and TRAK2. {ECO:0000250}.|Interaction with SNX1. {ECO:0000250}.|Interaction with STAM1. {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)			CCGGGCAGCCGAGGAGGCAGA	0.687													G|||	1	0.000199681	0.0	0.0	5008	,	,		14536	0.0		0.0	False		,,,				2504	0.001															0													10	13	12					17																	79663491		2176	4273	6449	SO:0001583	missense	9146			D84064	CCDS11784.1	17q25	2009-04-29				ENSG00000185359		"Zinc fingers, FYVE domain containing"	4897	protein-coding gene	gene with protein product		604375				9407053, 9630564	Standard	NM_004712		Approved	Hrs, ZFYVE8, Vps27	uc002kbg.3	O14964		ENST00000329138.4:c.1498G>A	17.37:g.79663491G>A	ENSP00000331201:p.Glu500Lys		Q9NR36	Missense_Mutation	SNP	ENST00000329138.4	37	CCDS11784.1	.	.	.	.	.	.	.	.	.	.	G	35	5.497274	0.96355	.	.	ENSG00000185359	ENST00000329138;ENST00000442335	T	0.04706	3.57	4.42	4.42	0.53409	Hepatocyte growth factor-regulated tyrosine kinase substrate, helical domain (1);	0.000000	0.85682	D	0.000000	T	0.17704	0.0425	L	0.57536	1.79	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	T	0.00636	-1.1633	10	0.51188	T	0.08	-37.8227	16.3585	0.83245	0.0:0.0:1.0:0.0	.	500	O14964	HGS_HUMAN	K	500	ENSP00000331201:E500K	ENSP00000331201:E500K	E	+	1	0	HGS	77273896	1.000000	0.71417	0.954000	0.39281	0.992000	0.81027	9.099000	0.94207	2.164000	0.68074	0.549000	0.68633	GAG		0.687	HGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440541.1	NM_004712		A	79663491	G	A	79663491	3	1	734	1	0	0	0	0	1	0	0	0	7089	1059	37	1	1560	1	HGS	17	79663491	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	150585	79663491	1531719	867	42286											
USP14	9097	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	18	198072	198072	+	Missense_Mutation	SNP	C	C	T	rs199949125		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr18:198072C>T	ENST00000261601.7	+	9	792	c.701C>T	c.(700-702)gCg>gTg	p.A234V	USP14_ENST00000400266.3_Missense_Mutation_p.A223V|USP14_ENST00000582707.1_Missense_Mutation_p.A199V|USP14_ENST00000383589.2_Missense_Mutation_p.A188V	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)	234	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)				GCATCGGCAGCGACACCTTCT	0.333													C|||	1	0.000199681	0.0	0.0	5008	,	,		14356	0.001		0.0	False		,,,				2504	0.0															0													58	60	59					18																	198072		2203	4300	6503	SO:0001583	missense	9097			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.701C>T	18.37:g.198072C>T	ENSP00000261601:p.Ala234Val		J3QRZ5|Q53XY5	Missense_Mutation	SNP	ENST00000261601.7	37	CCDS32780.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	7.068	0.567778	0.13560	.	.	ENSG00000101557	ENST00000261601;ENST00000383589;ENST00000400266	T;T	0.31247	1.5;1.5	6.17	1.12	0.20585	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.254724	0.44902	N	0.000410	T	0.13157	0.0319	N	0.19112	0.55	0.44728	D	0.997725	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.09377	0.003;0.004;0.003	T	0.14559	-1.0468	10	0.09084	T	0.74	-5.7672	3.78	0.08677	0.1964:0.4519:0.0:0.3516	.	223;199;234	B7Z4N8;A6NJA2;P54578	.;.;UBP14_HUMAN	V	234;199;223	ENSP00000261601:A234V;ENSP00000383125:A223V	ENSP00000261601:A234V	A	+	2	0	USP14	188072	0.165000	0.22948	0.949000	0.38748	0.530000	0.34684	0.732000	0.26072	0.190000	0.20209	-0.302000	0.09304	GCG		0.333	USP14-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440305.3	NM_005151		T	198072	C	T	198072	3	4	734	1	0	0	0	0	1	0	0	0	17050	768	27	1	735	1	USP14	18	198072	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10		198072	77879176	868	42287											
THOC1	9984	broad.mit.edu;mdanderson.org	37	18	216576	216576	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr18:216576G>A	ENST00000261600.6	-	19	1519	c.1512C>T	c.(1510-1512)agC>agT	p.S504S		NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN	THO complex 1	504					apoptotic process (GO:0006915)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of isotype switching to IgA isotypes (GO:0048297)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|regulation of DNA recombination (GO:0000018)|regulation of DNA-templated transcription, elongation (GO:0032784)|replication fork processing (GO:0031297)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				AGAAGTGAGGGCTTCTCCGTG	0.393																																																0													151	151	151					18																	216576		1851	4094	5945	SO:0001819	synonymous_variant	9984			AK055354	CCDS45820.1	18p11.32	2013-02-11			ENSG00000079134	ENSG00000079134		"THO complex subunits"	19070	protein-coding gene	gene with protein product		606930				11979277	Standard	NM_005131		Approved	P84, HPR1	uc002kkj.4	Q96FV9		ENST00000261600.6:c.1512C>T	18.37:g.216576G>A			B2RBP6|Q15219|Q64I72|Q64I73	Silent	SNP	ENST00000261600.6	37	CCDS45820.1																																																																																				0.393	THOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440348.5	NM_005131		A	216576	G	A	216576	2	1	734	1	0	0	0	0	0	0	0	1	15869	1194	42	2		2	THOC1	18	216576	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	18504	216576	77860672	869	42288											
NDC80	10403	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	18	2610781	2610781	+	Missense_Mutation	SNP	C	C	T	rs536241153		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr18:2610781C>T	ENST00000261597.4	+	16	1894	c.1712C>T	c.(1711-1713)aCg>aTg	p.T571M		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	571	Interaction with NEK2 and ZWINT.|Interaction with the C-terminus of CDCA1 and the SPBC24-SPBC25 subcomplex.				attachment of spindle microtubules to kinetochore (GO:0008608)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						GTGCAAACCACGACTGAAGAA	0.388													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16274	0.0		0.0	False		,,,				2504	0.0															0													188	173	178					18																	2610781		2203	4300	6503	SO:0001583	missense	10403			AF017790	CCDS11827.1	18p11.31	2013-01-17	2013-01-17	2007-03-02	ENSG00000080986	ENSG00000080986			16909	protein-coding gene	gene with protein product		607272	"highly expressed in cancer, rich in leucine heptad repeats (yeast)", "kinetochore associated 2", "NDC80 kinetochore complex component homolog (S. cerevisiae)"	KNTC2		9315664, 12351790	Standard	NM_006101		Approved	HEC, HEC1, hsNDC80, TID3	uc002kli.3	O14777	OTTHUMG00000131483	ENST00000261597.4:c.1712C>T	18.37:g.2610781C>T	ENSP00000261597:p.Thr571Met		Q6PJX2	Missense_Mutation	SNP	ENST00000261597.4	37	CCDS11827.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.611199	0.28712	.	.	ENSG00000080986	ENST00000261597	T	0.50001	0.76	5.34	5.34	0.76211	.	0.045740	0.85682	D	0.000000	T	0.65821	0.2728	M	0.66939	2.045	0.53688	D	0.999977	D	0.89917	1.0	D	0.69479	0.964	T	0.61589	-0.7032	10	0.27785	T	0.31	-12.0354	17.7979	0.88578	0.0:1.0:0.0:0.0	.	571	O14777	NDC80_HUMAN	M	571	ENSP00000261597:T571M	ENSP00000261597:T571M	T	+	2	0	NDC80	2600781	1.000000	0.71417	1.000000	0.80357	0.043000	0.13939	4.732000	0.62029	2.500000	0.84329	0.585000	0.79938	ACG		0.388	NDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254327.1	NM_006101		T	2610781	C	T	2610781	3	4	734	1	0	0	0	0	1	0	0	0	10244	536	19	1	1770	1	NDC80	18	2610781	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	2394205	2610781	75466467	870	42289											
ROCK1	6093	broad.mit.edu;mdanderson.org	37	18	18533573	18533573	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr18:18533573G>A	ENST00000399799.2	-	32	4967	c.4027C>T	c.(4027-4029)Cgg>Tgg	p.R1343W		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	1343	Auto-inhibitory.				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)					ACCACTTTCCGGAAAGACTGA	0.358																																																0													91	101	97					18																	18533573		2201	4296	6497	SO:0001583	missense	6093				CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"Pleckstrin homology (PH) domain containing"	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.4027C>T	18.37:g.18533573G>A	ENSP00000382697:p.Arg1343Trp		B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	ENST00000399799.2	37	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	G	11.86	1.764115	0.31228	.	.	ENSG00000067900	ENST00000399799	T	0.72394	-0.65	4.88	3.99	0.46301	.	0.000000	0.85682	D	0.000000	T	0.69296	0.3095	N	0.08118	0	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.75628	-0.3252	10	0.87932	D	0	.	13.4607	0.61225	0.0:0.0:0.6287:0.3713	.	1343	Q13464	ROCK1_HUMAN	W	1343	ENSP00000382697:R1343W	ENSP00000382697:R1343W	R	-	1	2	ROCK1	16787571	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.691000	0.54720	1.024000	0.39682	0.404000	0.27445	CGG		0.358	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406		A	18533573	G	A	18533573	3	1	734	1	0	0	0	0	1	0	0	0	13523	1115	39	1	45	1	ROCK1	18	18533573	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	15922792	18533573	59543675	871	42290											
LAMA3	3909	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	18	21474920	21474920	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr18:21474920C>T	ENST00000313654.9	+	44	5752	c.5511C>T	c.(5509-5511)ggC>ggT	p.G1837G	LAMA3_ENST00000269217.6_Silent_p.G228G|AC010754.1_ENST00000408462.1_RNA|LAMA3_ENST00000587184.1_Silent_p.G228G|LAMA3_ENST00000399516.3_Silent_p.G1837G	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1837	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)					CCACCATGGGCGAGCAGCTCC	0.622																																																0													54	46	49					18																	21474920		2203	4300	6503	SO:0001819	synonymous_variant	3909			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"Laminins"	6483	protein-coding gene	gene with protein product		600805	"laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.5511C>T	18.37:g.21474920C>T			B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Silent	SNP	ENST00000313654.9	37	CCDS42419.1																																																																																				0.622	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		T	21474920	C	T	21474920	2	4	734	1	0	0	0	0	0	0	0	1	8609	755	27	1		1	LAMA3	18	21474920	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	2941347	21474920	56602328	872	42291											
DSG4	147409	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	18	28972125	28972125	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr18:28972125C>T	ENST00000308128.4	+	8	962	c.827C>T	c.(826-828)gCc>gTc	p.A276V	RP11-534N16.1_ENST00000581452.1_RNA|DSG4_ENST00000359747.4_Missense_Mutation_p.A276V|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	276	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.		Missing (in HYPT6). {ECO:0000269|PubMed:12705872, ECO:0000269|PubMed:15191570}.		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)			TAGTACTCAGCCAGTATTGAA	0.294																																																0													99	99	99					18																	28972125		2203	4300	6503	SO:0001583	missense	147409			AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"Cadherins / Major cadherins"	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.827C>T	18.37:g.28972125C>T	ENSP00000311859:p.Ala276Val		A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	ENST00000308128.4	37	CCDS11897.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.400614	0.42613	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.52295	0.67;0.67	5.66	5.66	0.87406	Cadherin (4);Cadherin-like (1);	0.000000	0.34603	N	0.003836	T	0.31389	0.0795	N	0.17082	0.46	0.39001	D	0.959358	B;B	0.33379	0.207;0.41	B;B	0.37091	0.219;0.241	T	0.17228	-1.0376	10	0.15499	T	0.54	.	10.5213	0.44920	0.0:0.856:0.0:0.144	.	276;276	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	V	276	ENSP00000311859:A276V;ENSP00000352785:A276V	ENSP00000311859:A276V	A	+	2	0	DSG4	27226123	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	2.728000	0.47319	2.830000	0.97506	0.655000	0.94253	GCC		0.294	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986		T	28972125	C	T	28972125	3	4	734	1	0	0	0	0	1	0	0	0	4781	739	26	2	857	2	DSG4	18	28972125	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	7497205	28972125	49105123	873	42292											
TCEB3C	162699	broad.mit.edu	37	18	44554924	44554924	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr18:44554924C>T	ENST00000330682.2	-	1	1525	c.1290G>A	c.(1288-1290)gtG>gtA	p.V430V	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	430	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)			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						TTTTCGTGGTCACTACTCGCA	0.567																																																0													8	8	8					18																	44554924		1152	2342	3494	SO:0001819	synonymous_variant	162699			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.1290G>A	18.37:g.44554924C>T				Silent	SNP	ENST00000330682.2	37	CCDS11931.1																																																																																				0.567	TCEB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255902.1	NM_145653		T	44554924	C	T	44554924	2	4	734	1	0	0	0	0	0	0	0	1	15688	813	29	2		2	TCEB3C	18	44554924	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	15582799	44554924	33522324	874	42293											
TCEB3B	51224	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	18	44561229	44561229	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr18:44561229G>T	ENST00000332567.4	-	1	759	c.407C>A	c.(406-408)cCt>cAt	p.P136H	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)	136					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						TTGCCCCGGAGGTGTTCTGCG	0.632																																																0													56	65	62					18																	44561229		2203	4294	6497	SO:0001583	missense	51224			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.407C>A	18.37:g.44561229G>T	ENSP00000331302:p.Pro136His		Q9P2V9	Missense_Mutation	SNP	ENST00000332567.4	37	CCDS11932.1	.	.	.	.	.	.	.	.	.	.	g	5.687	0.311323	0.10789	.	.	ENSG00000206181	ENST00000332567	T	0.07021	3.23	2.74	-5.48	0.02592	.	2.324160	0.02057	N	0.050446	T	0.16599	0.0399	L	0.47716	1.5	0.09310	N	1	D	0.89917	1.0	D	0.73708	0.981	T	0.40098	-0.9581	10	0.15499	T	0.54	-0.0466	6.1248	0.20174	0.3003:0.372:0.3277:0.0	.	136	Q8IYF1	ELOA2_HUMAN	H	136	ENSP00000331302:P136H	ENSP00000331302:P136H	P	-	2	0	TCEB3B	42815227	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.530000	0.02221	-2.758000	0.00371	-1.335000	0.01260	CCT		0.632	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427		T	44561229	G	T	44561229	3	4	734	1	0	0	0	0	1	0	0	0	15687	1000	35	4	1858	4	TCEB3B	18	44561229	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	6305	44561229	33516019	875	42294											
ZBTB7C	201501	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	18	45567082	45567082	+	Missense_Mutation	SNP	C	C	T	rs200362895		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr18:45567082C>T	ENST00000588982.1	-	3	898	c.397G>A	c.(397-399)Ggg>Agg	p.G133R	ZBTB7C_ENST00000332053.2_Missense_Mutation_p.G133R|ZBTB7C_ENST00000535628.2_Missense_Mutation_p.G133R|ZBTB7C_ENST00000590800.1_Missense_Mutation_p.G133R|ZBTB7C_ENST00000586438.1_Missense_Mutation_p.G133R			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	133	Asp-rich.|Glu-rich.						metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						tcctcccccccgtcccccCCA	0.582																																																0													141	98	112					18																	45567082		2203	4300	6503	SO:0001583	missense	201501			Y14591	CCDS32830.1	18q21.1	2013-01-08		2005-04-07	ENSG00000184828	ENSG00000184828		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	31700	protein-coding gene	gene with protein product			"zinc finger and BTB domain containing 36"	ZBTB36			Standard	NM_001039360		Approved	ZNF857C	uc002ldb.3	A1YPR0		ENST00000588982.1:c.397G>A	18.37:g.45567082C>T	ENSP00000468782:p.Gly133Arg		O73453	Missense_Mutation	SNP	ENST00000588982.1	37	CCDS32830.1	.	.	.	.	.	.	.	.	.	.	C	10.38	1.334375	0.24253	.	.	ENSG00000184828	ENST00000535628;ENST00000332053	T;T	0.08984	3.03;3.03	4.93	4.93	0.64822	.	0.313831	0.32987	N	0.005419	T	0.07773	0.0195	N	0.14661	0.345	0.31493	N	0.665741	P;P;D	0.58268	0.501;0.501;0.982	B;B;P	0.44732	0.122;0.098;0.459	T	0.06534	-1.0821	10	0.34782	T	0.22	.	18.1181	0.89563	0.0:1.0:0.0:0.0	.	133;133;133	B4DKU0;B2RG49;A1YPR0	.;.;ZBT7C_HUMAN	R	133	ENSP00000439781:G133R;ENSP00000328732:G133R	ENSP00000328732:G133R	G	-	1	0	ZBTB7C	43821080	0.350000	0.24878	0.016000	0.15963	0.168000	0.22595	4.459000	0.60102	2.285000	0.76669	0.561000	0.74099	GGG		0.582	ZBTB7C-025	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450731.1	NM_001039360		T	45567082	C	T	45567082	3	4	734	1	0	0	0	0	1	0	0	0	17560	652	23	1	1470	1	ZBTB7C	18	45567082	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1005853	45567082	32510166	876	42295											
KIAA0427	9811	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	18	46146071	46146071	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr18:46146071G>A	ENST00000256413.3	+	2	430	c.135G>A	c.(133-135)acG>acA	p.T45T	CTIF_ENST00000382998.4_Silent_p.T45T	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	45	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						CTGACAAGACGGAGGGTGATG	0.652																																																0													37	28	31					18																	46146071		2201	4299	6500	SO:0001819	synonymous_variant	9811			AB007887	CCDS11935.1, CCDS45864.1	18q21.1	2011-01-20	2011-01-20	2011-01-20	ENSG00000134030	ENSG00000134030			23925	protein-coding gene	gene with protein product		613178	"KIAA0427"	KIAA0427		9455477, 19648179	Standard	NM_014772		Approved		uc002ldd.3	O43310	OTTHUMG00000132656	ENST00000256413.3:c.135G>A	18.37:g.46146071G>A			B3KTR8|Q8IVD5	Silent	SNP	ENST00000256413.3	37	CCDS11935.1																																																																																				0.652	CTIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255907.1	NM_014772		A	46146071	G	A	46146071	2	1	734	1	0	0	0	0	0	0	0	1	8178	1103	39	1		1	KIAA0427	18	46146071	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	578989	46146071	31931177	877	42296											
MYO5B	4645	mdanderson.org	37	18	47363927	47363927	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr18:47363927G>A	ENST00000285039.7	-	37	5397	c.5098C>T	c.(5098-5100)Cgg>Tgg	p.R1700W	MYO5B_ENST00000592688.1_Missense_Mutation_p.R270W|MYO5B_ENST00000324581.6_Missense_Mutation_p.R815W|SCARNA17_ENST00000589499.1_RNA|RP11-886H22.1_ENST00000590532.2_Missense_Mutation_p.R23W	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1700	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)		ACGTCCTTCCGCAAGAGCAGG	0.532																																																0													69	68	68					18																	47363927		2041	4196	6237	SO:0001583	missense	4645			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.5098C>T	18.37:g.47363927G>A	ENSP00000285039:p.Arg1700Trp		B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	ENST00000285039.7	37	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.921476	0.73213	.	.	ENSG00000167306	ENST00000285039;ENST00000324581	D;T	0.89939	-2.59;1.88	4.77	2.84	0.33178	Dilute (1);Dil domain (1);	0.000000	0.85682	D	0.000000	D	0.95159	0.8431	M	0.93462	3.42	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95459	0.8541	10	0.87932	D	0	.	11.3617	0.49646	0.0:0.0:0.4652:0.5348	.	1700;815	Q9ULV0;Q9H6Y6	MYO5B_HUMAN;.	W	1700;815	ENSP00000285039:R1700W;ENSP00000315531:R815W	ENSP00000285039:R1700W	R	-	1	2	MYO5B	45617925	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.565000	0.36386	1.356000	0.45884	0.591000	0.81541	CGG		0.532	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			A	47363927	G	A	47363927	3	1	734	1	0	0	0	0	1	0	0	0	10081	1086	38	1	464	1	MYO5B	18	47363927	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1217856	47363927	30713321	878	42297											
WDR7	23335	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	18	54358459	54358459	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr18:54358459G>A	ENST00000254442.3	+	8	941	c.730G>A	c.(730-732)Gga>Aga	p.G244R	WDR7_ENST00000357574.3_Missense_Mutation_p.G244R|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	244					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GTTCGATGCCGGAGACTATTC	0.398																																																0													123	132	129					18																	54358459		2203	4300	6503	SO:0001583	missense	23335			AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"WD repeat domain containing"	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.730G>A	18.37:g.54358459G>A	ENSP00000254442:p.Gly244Arg		A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	ENST00000254442.3	37	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	G	32	5.130878	0.94473	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000398311	T;T	0.03920	3.76;3.76	5.45	5.45	0.79879	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.052701	0.85682	D	0.000000	T	0.13713	0.0332	M	0.66939	2.045	0.80722	D	1	D;D	0.59767	0.986;0.968	P;B	0.51516	0.672;0.235	T	0.02026	-1.1227	10	0.30078	T	0.28	.	19.2552	0.93943	0.0:0.0:1.0:0.0	.	244;244	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	R	244	ENSP00000254442:G244R;ENSP00000350187:G244R	ENSP00000254442:G244R	G	+	1	0	WDR7	52509457	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	7.810000	0.86072	2.729000	0.93468	0.460000	0.39030	GGA		0.398	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			A	54358459	G	A	54358459	3	1	734	1	0	0	0	0	1	0	0	0	17325	1117	39	1	756	1	WDR7	18	54358459	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	6994532	54358459	23718789	879	42298											
WDR7	23335	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	18	54591323	54591323	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr18:54591323G>A	ENST00000254442.3	+	22	3908	c.3697G>A	c.(3697-3699)Gag>Aag	p.E1233K	WDR7_ENST00000357574.3_Missense_Mutation_p.E1200K|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1233					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TGCCGATGCCGAGAAACAACT	0.428																																																0													184	171	176					18																	54591323		2203	4300	6503	SO:0001583	missense	23335			AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"WD repeat domain containing"	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.3697G>A	18.37:g.54591323G>A	ENSP00000254442:p.Glu1233Lys		A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	ENST00000254442.3	37	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.869877	0.91587	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000444065;ENST00000398311	T;T	0.69806	-0.43;2.64	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.73016	0.3533	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.76575	0.988;0.972	T	0.71248	-0.4649	10	0.33141	T	0.24	.	18.869	0.92305	0.0:0.0:1.0:0.0	.	1200;1233	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	K	1233;1200;558;1200	ENSP00000254442:E1233K;ENSP00000350187:E1200K	ENSP00000254442:E1233K	E	+	1	0	WDR7	52742321	1.000000	0.71417	0.998000	0.56505	0.929000	0.56500	9.438000	0.97539	2.553000	0.86117	0.591000	0.81541	GAG		0.428	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			A	54591323	G	A	54591323	3	1	734	1	0	0	0	0	1	0	0	0	17325	1059	37	1	3779	1	WDR7	18	54591323	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	232864	54591323	23485925	880	42299											
ALPK2	115701	broad.mit.edu	37	18	56191246	56191246	+	Silent	SNP	C	C	T	rs145864025	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr18:56191246C>T	ENST00000361673.3	-	7	5763	c.5550G>A	c.(5548-5550)ccG>ccA	p.P1850P		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1850	Ig-like 2.					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						CCTGGTCCTTCGGACTGGCTT	0.448													C|||	4	0.000798722	0.003	0.0	5008	,	,		22113	0.0		0.0	False		,,,				2504	0.0															0								C		19,4387	26.2+/-53.5	0,19,2184	91	87	89		5550	-0.9	0.8	18	dbSNP_134	89	0,8600		0,0,4300	no	coding-synonymous	ALPK2	NM_052947.3		0,19,6484	TT,TC,CC		0.0,0.4312,0.1461		1850/2171	56191246	19,12987	2203	4300	6503	SO:0001819	synonymous_variant	115701			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"Immunoglobulin superfamily / I-set domain containing"	20565	protein-coding gene	gene with protein product	"heart alpha-kinase"					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.5550G>A	18.37:g.56191246C>T			Q6ZUX0|Q8NAT5|Q96L95	Silent	SNP	ENST00000361673.3	37	CCDS11966.2																																																																																				0.448	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		T	56191246	C	T	56191246	2	4	734	1	0	0	0	0	0	0	0	1	545	871	31	1		1	ALPK2	18	56191246	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1599923	56191246	21886002	881	42300											
DOK6	220164	bcgsc.ca	37	18	67406218	67406218	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr18:67406218A>G	ENST00000382713.5	+	6	807	c.617A>G	c.(616-618)gAa>gGa	p.E206G	DOK6_ENST00000584435.1_3'UTR	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	206	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)				GACACAGGAGAAGGACTATTC	0.428																																																0													154	151	152					18																	67406218		2203	4300	6503	SO:0001583	missense	220164			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.617A>G	18.37:g.67406218A>G	ENSP00000372160:p.Glu206Gly		A6NNG3|Q4V9S3|Q8WUZ8|Q96HI2|Q96LU2	Missense_Mutation	SNP	ENST00000382713.5	37	CCDS32841.1	.	.	.	.	.	.	.	.	.	.	A	15.60	2.880649	0.51801	.	.	ENSG00000206052	ENST00000382713	D	0.85258	-1.96	6.17	6.17	0.99709	Pleckstrin homology-type (1);Insulin receptor substrate-1, PTB (3);	0.000000	0.85682	D	0.000000	D	0.93298	0.7864	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94001	0.7275	10	0.66056	D	0.02	-18.3736	16.0034	0.80327	1.0:0.0:0.0:0.0	.	206	Q6PKX4	DOK6_HUMAN	G	206	ENSP00000372160:E206G	ENSP00000372160:E206G	E	+	2	0	DOK6	65557198	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.160000	0.94734	2.371000	0.80710	0.533000	0.62120	GAA		0.428	DOK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442969.1	NM_152721		G	67406218	A	G	67406218	3	3	734	1	0	0	0	0	1	0	0	0	4703	246	9	3	639	3	DOK6	18	67406218	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	11214972	67406218	10671030	882	42301											
ATP9B	374868	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	18	76886295	76886295	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr18:76886295G>A	ENST00000426216.2	+	5	604	c.587G>A	c.(586-588)cGg>cAg	p.R196Q	ATP9B_ENST00000307671.7_Missense_Mutation_p.R196Q|ATP9B_ENST00000591464.1_3'UTR	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	196					establishment of protein localization to Golgi (GO:0072600)|phospholipid translocation (GO:0045332)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		ACTATGACACGGGAAGCAATT	0.333																																																0													168	147	154					18																	76886295		2203	4300	6503	SO:0001583	missense	374868			R51412	CCDS12014.1	18q23	2010-04-20	2007-09-19		ENSG00000166377	ENSG00000166377		"ATPases / P-type"	13541	protein-coding gene	gene with protein product		614446	"ATPase, Class II, type 9B"			9548971, 11015572	Standard	NM_198531		Approved	ATPIIB	uc002lmx.3	O43861	OTTHUMG00000132898	ENST00000426216.2:c.587G>A	18.37:g.76886295G>A	ENSP00000398076:p.Arg196Gln		O60872|Q08AD8|Q08AD9	Missense_Mutation	SNP	ENST00000426216.2	37	CCDS12014.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.060644	0.76074	.	.	ENSG00000166377	ENST00000542323;ENST00000426216;ENST00000307671	T;T	0.76709	-1.04;-1.04	5.42	5.42	0.78866	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.90079	0.6901	M	0.88906	2.99	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.71184	0.972;0.952	D	0.91498	0.5217	10	0.87932	D	0	.	19.164	0.93546	0.0:0.0:1.0:0.0	.	196;196	O43861;O43861-2	ATP9B_HUMAN;.	Q	119;196;196	ENSP00000398076:R196Q;ENSP00000304500:R196Q	ENSP00000304500:R196Q	R	+	2	0	ATP9B	74987283	1.000000	0.71417	0.758000	0.31321	0.165000	0.22458	8.533000	0.90617	2.703000	0.92315	0.591000	0.81541	CGG		0.333	ATP9B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256402.3	NM_198531		A	76886295	G	A	76886295	3	1	734	1	0	0	0	0	1	0	0	0	1199	1116	39	1	605	1	ATP9B	18	76886295	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	9480077	76886295	1190953	883	42302											
NFATC1	4772	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	77170445	77170445	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr18:77170445C>T	ENST00000427363.2	+	2	170	c.170C>T	c.(169-171)cCg>cTg	p.P57L	NFATC1_ENST00000591814.1_Missense_Mutation_p.P57L|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000586434.1_Missense_Mutation_p.P44L|NFATC1_ENST00000592223.1_Missense_Mutation_p.P44L|NFATC1_ENST00000318065.5_Missense_Mutation_p.P44L|NFATC1_ENST00000329101.4_Missense_Mutation_p.P44L|NFATC1_ENST00000587635.1_Missense_Mutation_p.P57L|NFATC1_ENST00000542384.1_Missense_Mutation_p.P57L|NFATC1_ENST00000253506.5_Missense_Mutation_p.P57L			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	57					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)	CCCGCCCTGCCGCTCCCCACG	0.632																																					GBM(151;1210 2593 28719 45011)											0													66	78	74					18																	77170445		2203	4299	6502	SO:0001583	missense	4772			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.170C>T	18.37:g.77170445C>T	ENSP00000389377:p.Pro57Leu		B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Missense_Mutation	SNP	ENST00000427363.2	37		.	.	.	.	.	.	.	.	.	.	C	14.76	2.632325	0.46944	.	.	ENSG00000131196	ENST00000318065;ENST00000253506;ENST00000542384;ENST00000329101;ENST00000427363;ENST00000397794	T;T;T	0.48836	0.8;0.8;0.8	4.39	3.51	0.40186	.	0.394001	0.26824	N	0.022317	T	0.57710	0.2072	M	0.65498	2.005	0.80722	D	1	D;D;D;D;D;D;D	0.69078	0.995;0.992;0.963;0.992;0.992;0.997;0.979	P;B;B;P;P;P;B	0.52881	0.712;0.44;0.238;0.559;0.559;0.559;0.319	T	0.64997	-0.6275	10	0.87932	D	0	-22.4283	14.4591	0.67438	0.0:0.8519:0.1481:0.0	.	44;44;57;57;57;44;57	B5B2M7;B5B2N1;B5B2M6;O95644;B5B2M4;B5B2M5;Q2M1S3	.;.;.;NFAC1_HUMAN;.;.;.	L	57;57;57;44;44;21	ENSP00000253506:P57L;ENSP00000442435:P57L;ENSP00000327850:P44L	ENSP00000253506:P57L	P	+	2	0	NFATC1	75271433	0.996000	0.38824	0.023000	0.16930	0.004000	0.04260	3.399000	0.52586	1.054000	0.40438	-0.264000	0.10439	CCG		0.632	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	NM_172390		T	77170445	C	T	77170445	3	4	734	1	0	0	0	0	1	0	0	0	10363	652	23	1	268	1	NFATC1	18	77170445	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	284150	77170445	906803	884	42303											
BSG	682	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	19	579590	579590	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:579590A>G	ENST00000333511.3	+	3	576	c.506A>G	c.(505-507)cAc>cGc	p.H169R	BSG_ENST00000545507.2_5'UTR|BSG_ENST00000574970.1_3'UTR|BSG_ENST00000346916.4_Intron|BSG_ENST00000353555.4_Missense_Mutation_p.H53R	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN	basigin (Ok blood group)	169	Ig-like C2-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)		GTCACAGGGCACCGCTGGCTG	0.627																																																0													61	53	56					19																	579590		2202	4298	6500	SO:0001583	missense	682			L10240	CCDS12032.1, CCDS12033.1, CCDS12034.1, CCDS58635.1	19p13.3	2014-07-19	2014-01-02		ENSG00000172270	ENSG00000172270		"CD molecules", "Blood group antigens", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1116	protein-coding gene	gene with protein product	"Ok blood group"	109480	"basigin"	OK		8404035, 7812975	Standard	NM_198591		Approved	EMMPRIN, CD147	uc002loz.4	P35613		ENST00000333511.3:c.506A>G	19.37:g.579590A>G	ENSP00000333769:p.His169Arg		A6NJW1|D3YLG5|Q7Z796|Q8IZL7	Missense_Mutation	SNP	ENST00000333511.3	37	CCDS12033.1	.	.	.	.	.	.	.	.	.	.	A	14.00	2.405786	0.42715	.	.	ENSG00000172270	ENST00000333511;ENST00000353555	T;T	0.13307	2.6;3.12	4.24	4.24	0.50183	Immunoglobulin-like (1);	0.179527	0.48286	D	0.000188	T	0.35393	0.0930	M	0.83483	2.645	0.42996	D	0.994508	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.997;0.999;0.997	T	0.18116	-1.0347	10	0.25106	T	0.35	-53.7606	9.7618	0.40537	1.0:0.0:0.0:0.0	.	53;169;53;169	P35613-2;B4DNE1;Q54A51;P35613	.;.;.;BASI_HUMAN	R	169;53	ENSP00000333769:H169R;ENSP00000343809:H53R	ENSP00000333769:H169R	H	+	2	0	BSG	530590	1.000000	0.71417	0.654000	0.29608	0.144000	0.21451	2.723000	0.47277	1.570000	0.49709	0.454000	0.30748	CAC		0.627	BSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438630.2	NM_001728		G	579590	A	G	579590	3	3	734	1	0	0	0	0	1	0	0	0	1531	159	6	3	552	3	BSG	19	579590	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10		579590	58549393	885	42304											
SBNO2	22904	hgsc.bcm.edu;mdanderson.org	37	19	1116900	1116900	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:1116900G>A	ENST00000361757.3	-	16	1967	c.1730C>T	c.(1729-1731)aCg>aTg	p.T577M	SBNO2_ENST00000438103.2_Missense_Mutation_p.T520M|SBNO2_ENST00000587024.1_Missense_Mutation_p.T567M	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	577					bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCCTCGCCCGTGGACTGCAG	0.677																																																0																																										SO:0001583	missense	22904			AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"KIAA0963"	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000361757.3:c.1730C>T	19.37:g.1116900G>A	ENSP00000354733:p.Thr577Met		A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Missense_Mutation	SNP	ENST00000361757.3	37	CCDS45894.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.609753	0.87258	.	.	ENSG00000064932	ENST00000361757;ENST00000438103;ENST00000250872	T;T	0.37058	1.22;1.22	4.18	4.18	0.49190	.	0.000000	0.85682	D	0.000000	T	0.67655	0.2916	M	0.91612	3.225	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	0.77259	-0.2654	10	0.87932	D	0	-21.2277	16.0091	0.80385	0.0:0.0:1.0:0.0	.	577;577;520	B4DV91;Q9Y2G9;Q9Y2G9-3	.;SBNO2_HUMAN;.	M	577;520;601	ENSP00000354733:T577M;ENSP00000400762:T520M	ENSP00000250872:T601M	T	-	2	0	SBNO2	1067900	1.000000	0.71417	0.937000	0.37676	0.824000	0.46624	9.372000	0.97165	2.320000	0.78422	0.563000	0.77884	ACG		0.677	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	NM_014963		A	1116900	G	A	1116900	3	1	734	1	0	0	0	0	1	0	0	0	13869	1145	40	1	2438	1	SBNO2	19	1116900	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	537310	1116900	58012083	886	42305											
SBNO2	22904	mdanderson.org	37	19	1116911	1116911	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:1116911C>T	ENST00000361757.3	-	16	1956	c.1719G>A	c.(1717-1719)ggG>ggA	p.G573G	SBNO2_ENST00000438103.2_Silent_p.G516G|SBNO2_ENST00000587024.1_Silent_p.G563G	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	573					bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGACTGCAGCCCGATGACCA	0.687																																																0													24	28	26					19																	1116911		2138	4209	6347	SO:0001819	synonymous_variant	22904			AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"KIAA0963"	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000361757.3:c.1719G>A	19.37:g.1116911C>T			A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Silent	SNP	ENST00000361757.3	37	CCDS45894.1																																																																																				0.687	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	NM_014963		T	1116911	C	T	1116911	2	4	734	1	0	0	0	0	0	0	0	1	13869	726	26	2		2	SBNO2	19	1116911	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	11	1116911	58012072	887	42306											
TCF3	6929	hgsc.bcm.edu	37	19	1621856	1621856	+	Silent	SNP	G	G	A	rs377363979		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:1621856G>A	ENST00000262965.5	-	11	1280	c.936C>T	c.(934-936)agC>agT	p.S312S	TCF3_ENST00000453954.2_Silent_p.S228S|TCF3_ENST00000588136.1_Silent_p.S312S|TCF3_ENST00000344749.5_Silent_p.S312S|TCF3_ENST00000395423.3_Silent_p.S261S	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)		TGTCGGCCCCGCTGACAGGCG	0.701			T	"PBX1, HLF, TFPT"	pre B-ALL																																		Dom	yes		19	19p13.3	6929	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)		L	0								G	,	1,4351		0,1,2175	9	12	11		936,936	-8.8	0	19		11	2,8548		0,2,4273	no	coding-synonymous,coding-synonymous	TCF3	NM_001136139.2,NM_003200.3	,	0,3,6448	AA,AG,GG		0.0234,0.023,0.0233	,	312/652,312/655	1621856	3,12899	2176	4275	6451	SO:0001819	synonymous_variant	6929			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.936C>T	19.37:g.1621856G>A			Q53R97|Q6PD70|Q9NP00	Silent	SNP	ENST00000262965.5	37	CCDS12074.1																																																																																				0.701	TCF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449367.1	NM_003200		A	1621856	G	A	1621856	2	1	734	1	0	0	0	0	0	0	0	1	15699	1078	38	1		1	TCF3	19	1621856	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	504945	1621856	57507127	888	42307											
FAM108A1	81926	broad.mit.edu;mdanderson.org;bcgsc.ca	37	19	1881247	1881247	+	Missense_Mutation	SNP	C	C	T	rs536953984		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:1881247C>T	ENST00000292577.7	-	2	752	c.319G>A	c.(319-321)Gtg>Atg	p.V107M	ABHD17A_ENST00000590661.1_Missense_Mutation_p.V107M|ABHD17A_ENST00000250974.9_Missense_Mutation_p.V107M	NM_001130111.1	NP_001123583.1	Q96GS6	AB17A_HUMAN	abhydrolase domain containing 17A	107						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)										GCACCAGGCACGCAGCGAACA	0.657													c|||	1	0.000199681	0.0	0.0	5008	,	,		14967	0.0		0.0	False		,,,				2504	0.001															0													37	42	40					19																	1881247		2202	4300	6502	SO:0001583	missense	81926			BC020512	CCDS32867.1, CCDS45902.1	19p13.3	2013-03-15	2013-03-15	2013-03-15	ENSG00000129968	ENSG00000129968		"Abhydrolase domain containing"	28756	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 27", "family with sequence similarity 108, member A1"	C19orf27, FAM108A1		14702039	Standard	NM_031213		Approved	MGC5244	uc002lug.3	Q96GS6	OTTHUMG00000171872	ENST00000292577.7:c.319G>A	19.37:g.1881247C>T	ENSP00000292577:p.Val107Met		A8K0G8|D6W5Z9|Q6PJU2|Q8WUH9|Q9BWL0|Q9H7Q9	Missense_Mutation	SNP	ENST00000292577.7	37	CCDS45902.1	.	.	.	.	.	.	.	.	.	.	c	21.4	4.148561	0.78001	.	.	ENSG00000129968	ENST00000250974;ENST00000292577	T;T	0.32272	1.46;1.51	4.0	4.0	0.46444	.	0.251859	0.39210	N	0.001438	T	0.41673	0.1169	L	0.54323	1.7	0.46631	D	0.999133	P;D;D;D	0.58268	0.904;0.982;0.967;0.982	B;P;P;P	0.52710	0.255;0.707;0.52;0.62	T	0.37663	-0.9696	10	0.49607	T	0.09	-8.8925	15.6325	0.76923	0.0:1.0:0.0:0.0	.	107;107;107;107	Q96GS6;Q96GS6-2;Q96GS6-3;Q96GS6-4	F18A1_HUMAN;.;.;.	M	107	ENSP00000250974:V107M;ENSP00000292577:V107M	ENSP00000250974:V107M	V	-	1	0	FAM108A1	1832247	0.534000	0.26362	0.949000	0.38748	0.778000	0.44026	2.927000	0.48900	2.226000	0.72624	0.561000	0.74099	GTG		0.657	ABHD17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415556.2	NM_031213		T	1881247	C	T	1881247	3	4	734	1	0	0	0	0	1	0	0	0	5393	536	19	1	786	1	FAM108A1	19	1881247	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	259391	1881247	57247736	889	42308											
AMH	268	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	19	2249496	2249496	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:2249496C>T	ENST00000221496.4	+	1	187	c.165C>T	c.(163-165)tgC>tgT	p.C55C	MIR4321_ENST00000592276.1_RNA	NM_000479.3	NP_000470	P03971	MIS_HUMAN	anti-Mullerian hormone	55					aging (GO:0007568)|cell-cell signaling (GO:0007267)|gonadal mesoderm development (GO:0007506)|Mullerian duct regression (GO:0001880)|positive regulation of gene expression (GO:0010628)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|preantral ovarian follicle growth (GO:0001546)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|sex determination (GO:0007530)|sex differentiation (GO:0007548)|urogenital system development (GO:0001655)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)|receptor binding (GO:0005102)			lung(2)	2		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)		AGCCTCTGTGCCTGGTGGCAC	0.667									Persistant Mullerian Duct Syndrome (type I and II)																																							0													17	19	19					19																	2249496		2197	4297	6494	SO:0001819	synonymous_variant	268	Familial Cancer Database	PMDS, Persistent Oviduct Syndrome	K03474	CCDS12085.1	19p13.3	2014-01-30				ENSG00000104899		"Endogenous ligands"	464	protein-coding gene	gene with protein product		600957				3754790, 18784351	Standard	NM_000479		Approved	MIS	uc002lvh.2	P03971		ENST00000221496.4:c.165C>T	19.37:g.2249496C>T			O75246|Q6GTN3	Silent	SNP	ENST00000221496.4	37	CCDS12085.1																																																																																				0.667	AMH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451276.3	NM_000479		T	2249496	C	T	2249496	2	4	734	1	0	0	0	0	0	0	0	1	572	747	26	2		2	AMH	19	2249496	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	368249	2249496	56879487	890	42309											
TMPRSS9	360200	hgsc.bcm.edu;mdanderson.org	37	19	2425067	2425067	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:2425067C>T	ENST00000332578.3	+	15	2683	c.2683C>T	c.(2683-2685)Ctg>Ttg	p.L895L		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	895	Peptidase S1 3. {ECO:0000255|PROSITE- ProRule:PRU00274}.				plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				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)		GGAGGGGCAGCTGGAGCGCGT	0.711																																																0													12	10	11					19																	2425067		2178	4267	6445	SO:0001819	synonymous_variant	360200			AJ488946	CCDS12088.1	19p13.3	2010-04-13						"Serine peptidases / Transmembrane"	30079	protein-coding gene	gene with protein product	"polyserase 1"	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.2683C>T	19.37:g.2425067C>T			Q6ZND6|Q7Z411	Silent	SNP	ENST00000332578.3	37	CCDS12088.1																																																																																				0.711	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451330.3	NM_182973		T	2425067	C	T	2425067	2	4	734	1	0	0	0	0	0	0	0	1	16258	796	28	2		2	TMPRSS9	19	2425067	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	175571	2425067	56703916	891	42310											
SGTA	6449	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	2757763	2757763	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:2757763G>A	ENST00000221566.2	-	10	916	c.755C>T	c.(754-756)tCg>tTg	p.S252L		NM_003021.3	NP_003012.1	O43765	SGTA_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha	252					viral process (GO:0016032)	cytoplasm (GO:0005737)				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTTGCCACCCGAAATCATGCC	0.667																																																0													84	67	73					19																	2757763		2202	4300	6502	SO:0001583	missense	6449			AJ223828	CCDS12094.1	19p13	2013-01-10	2003-11-24	2003-11-26		ENSG00000104969		"Tetratricopeptide (TTC) repeat domain containing"	10819	protein-coding gene	gene with protein product		603419	"small glutamine-rich tetratricopeptide repeat (TPR)-containing"	SGT		9740675, 12735788	Standard	NM_003021		Approved		uc002lwi.1	O43765		ENST00000221566.2:c.755C>T	19.37:g.2757763G>A	ENSP00000221566:p.Ser252Leu		D6W610|Q6FIA9|Q9BTZ9	Missense_Mutation	SNP	ENST00000221566.2	37	CCDS12094.1	.	.	.	.	.	.	.	.	.	.	G	10.49	1.365421	0.24684	.	.	ENSG00000104969	ENST00000221566	T	0.37235	1.21	4.68	3.63	0.41609	.	0.439728	0.26055	N	0.026613	T	0.32645	0.0836	M	0.72118	2.19	0.58432	D	0.999995	P	0.46512	0.879	B	0.34180	0.177	T	0.26395	-1.0104	10	0.52906	T	0.07	-13.5307	11.172	0.48577	0.0:0.0:0.8153:0.1847	.	252	O43765	SGTA_HUMAN	L	252	ENSP00000221566:S252L	ENSP00000221566:S252L	S	-	2	0	SGTA	2708763	1.000000	0.71417	0.121000	0.21740	0.002000	0.02628	7.190000	0.77755	0.951000	0.37770	-0.181000	0.13052	TCG		0.667	SGTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451448.2	NM_003021		A	2757763	G	A	2757763	3	1	734	1	0	0	0	0	1	0	0	0	14231	1059	37	1	194	1	SGTA	19	2757763	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	332696	2757763	56371220	892	42311											
S1PR4	8698	broad.mit.edu	37	19	3179323	3179323	+	Missense_Mutation	SNP	T	T	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:3179323T>G	ENST00000246115.3	+	1	588	c.533T>G	c.(532-534)aTg>aGg	p.M178R	S1PR4_ENST00000591346.1_3'UTR	NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4	178					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)			breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						CTGCTGGGGATGCTGCCTTTG	0.667																																					GBM(82;318 1638 33279 49708)											0													73	77	76					19																	3179323		2203	4299	6502	SO:0001583	missense	8698			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.533T>G	19.37:g.3179323T>G	ENSP00000246115:p.Met178Arg		D6W612	Missense_Mutation	SNP	ENST00000246115.3	37	CCDS12105.1	.	.	.	.	.	.	.	.	.	.	T	9.100	1.003889	0.19199	.	.	ENSG00000125910	ENST00000246115	T	0.72505	-0.66	4.17	4.17	0.49024	GPCR, rhodopsin-like superfamily (1);	0.183707	0.38381	N	0.001712	T	0.56514	0.1990	L	0.27053	0.805	0.29963	N	0.819214	B	0.14438	0.01	B	0.06405	0.002	T	0.54970	-0.8213	10	0.36615	T	0.2	.	12.346	0.55122	0.0:0.0:0.0:1.0	.	178	O95977	S1PR4_HUMAN	R	178	ENSP00000246115:M178R	ENSP00000246115:M178R	M	+	2	0	S1PR4	3130323	1.000000	0.71417	0.972000	0.41901	0.067000	0.16453	4.698000	0.61789	1.660000	0.50760	0.379000	0.24179	ATG		0.667	S1PR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452517.1	NM_003775		G	3179323	T	G	3179323	3	3	734	1	0	0	0	0	1	0	0	0	13802	1464	51	5	535	5	S1PR4	19	3179323	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	421560	3179323	55949660	893	42312											
TBXA2R	6915	hgsc.bcm.edu	37	19	3595775	3595775	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:3595775C>T	ENST00000375190.4	-	3	1336	c.943G>A	c.(943-945)Gtg>Atg	p.V315M	TBXA2R_ENST00000587717.1_5'Flank|TBXA2R_ENST00000411851.3_Missense_Mutation_p.V315M|TBXA2R_ENST00000589966.1_Missense_Mutation_p.R185H	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	315					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)	CGCCGGAGCACGGCGCGGCGG	0.677																																																0													17	22	21					19																	3595775		2172	4275	6447	SO:0001583	missense	6915				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.943G>A	19.37:g.3595775C>T	ENSP00000364336:p.Val315Met		O75228|Q6DK52|Q9UCY1|Q9UCY2	Missense_Mutation	SNP	ENST00000375190.4	37	CCDS42467.1	.	.	.	.	.	.	.	.	.	.	C	18.95	3.732336	0.69189	.	.	ENSG00000006638	ENST00000411851;ENST00000375190	T;T	0.39229	1.09;1.09	5.27	5.27	0.74061	.	0.000000	0.64402	D	0.000001	T	0.55641	0.1933	L	0.32530	0.975	0.51767	D	0.99993	D	0.89917	1.0	D	0.87578	0.998	T	0.59043	-0.7528	10	0.87932	D	0	-38.9854	17.4889	0.87698	0.0:1.0:0.0:0.0	.	315	P21731	TA2R_HUMAN	M	315	ENSP00000393333:V315M;ENSP00000364336:V315M	ENSP00000364336:V315M	V	-	1	0	TBXA2R	3546775	1.000000	0.71417	0.825000	0.32803	0.106000	0.19336	5.784000	0.68990	2.486000	0.83907	0.561000	0.74099	GTG		0.677	TBXA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453081.2			T	3595775	C	T	3595775	3	4	734	1	0	0	0	0	1	0	0	0	15668	536	19	1	337	1	TBXA2R	19	3595775	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	416452	3595775	55533208	894	42313											
CHAF1A	10036	broad.mit.edu;ucsc.edu;mdanderson.org	37	19	4409549	4409549	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:4409549G>A	ENST00000301280.5	+	3	854	c.753G>A	c.(751-753)ccG>ccA	p.P251P		NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	251	Binds to CBX1 chromo shadow domain.				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)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)	p.P251P(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAGACCACCGCAAATCAAGT	0.542								Chromatin Structure																																								1	Substitution - coding silent(1)	endometrium(1)											108	102	104					19																	4409549		2203	4300	6503	SO:0001819	synonymous_variant	10036			U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"chromatin assembly factor I (150 kDa)"	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.753G>A	19.37:g.4409549G>A			Q6NXG5|Q7Z7K3|Q9UJY8	Silent	SNP	ENST00000301280.5	37	CCDS32875.1																																																																																				0.542	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458310.2	NM_005483		A	4409549	G	A	4409549	2	1	734	1	0	0	0	0	0	0	0	1	3313	1074	38	1		1	CHAF1A	19	4409549	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	813774	4409549	54719434	895	42314											
PLIN4	729359	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	4511019	4511019	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:4511019C>T	ENST00000301286.3	-	3	2910	c.2911G>A	c.(2911-2913)Gcc>Acc	p.A971T		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	971	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						GCCTTGGAGGCGTCCACGCCG	0.617																																																0													42	48	46					19																	4511019		2173	4255	6428	SO:0001583	missense	729359			AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"Perilipins"	29393	protein-coding gene	gene with protein product		613247	"KIAA1881"	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.2911G>A	19.37:g.4511019C>T	ENSP00000301286:p.Ala971Thr		A6NEI2	Missense_Mutation	SNP	ENST00000301286.3	37	CCDS45927.1	.	.	.	.	.	.	.	.	.	.	T	0.035	-1.313322	0.01331	.	.	ENSG00000167676	ENST00000301286	T	0.01767	4.65	4.9	2.79	0.32731	.	0.000000	0.49305	N	0.000143	T	0.00666	0.0022	N	0.01048	-1.04	0.19775	N	0.999956	B	0.02656	0.0	B	0.04013	0.001	T	0.48456	-0.9034	10	0.11182	T	0.66	-9.5149	7.6921	0.28573	0.0:0.2515:0.0:0.7485	.	971	Q96Q06	PLIN4_HUMAN	T	971	ENSP00000301286:A971T	ENSP00000301286:A971T	A	-	1	0	PLIN4	4462019	0.011000	0.17503	0.929000	0.37066	0.001000	0.01503	0.205000	0.17356	0.728000	0.32382	-0.443000	0.05667	GCC		0.617	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		T	4511019	C	T	4511019	3	4	734	1	0	0	0	0	1	0	0	0	12094	768	27	1	1178	1	PLIN4	19	4511019	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	101470	4511019	54617964	896	42315											
LONP1	9361	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	5707746	5707746	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:5707746C>T	ENST00000360614.3	-	6	1181	c.1024G>A	c.(1024-1026)Gag>Aag	p.E342K	LONP1_ENST00000593119.1_Missense_Mutation_p.E278K|LONP1_ENST00000585374.1_Missense_Mutation_p.E228K|LONP1_ENST00000540670.2_Missense_Mutation_p.E146K|LONP1_ENST00000590729.1_Missense_Mutation_p.E212K	NM_004793.2	NP_004784.2			lon peptidase 1, mitochondrial											breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCATGGGACTCGGCCCCGGTG	0.662																																																0													58	60	59					19																	5707746		2203	4300	6503	SO:0001583	missense	9361			U02389	CCDS12148.1, CCDS62507.1, CCDS62508.1	19p13.2	2014-01-28	2006-10-20	2006-10-20	ENSG00000196365	ENSG00000196365		"ATPases / AAA-type", "Serine peptidases / Serine peptidases"	9479	protein-coding gene	gene with protein product		605490	"protease, serine, 15"	PRSS15		8248235, 8119403	Standard	NM_004793		Approved	LonHS, hLON, PIM1	uc002mcx.4	P36776		ENST00000360614.3:c.1024G>A	19.37:g.5707746C>T	ENSP00000353826:p.Glu342Lys			Missense_Mutation	SNP	ENST00000360614.3	37	CCDS12148.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.652507	0.67472	.	.	ENSG00000196365	ENST00000360614;ENST00000358403;ENST00000540670	T;T	0.41400	1.0;1.0	4.63	3.57	0.40892	Peptidase S16, lon N-terminal (2);	0.051787	0.85682	D	0.000000	T	0.56934	0.2019	M	0.85041	2.73	0.58432	D	0.999999	D;P;D	0.55800	0.973;0.951;0.973	P;P;P	0.55087	0.768;0.768;0.768	T	0.58769	-0.7578	10	0.27785	T	0.31	-44.5514	10.9772	0.47473	0.0:0.9037:0.0:0.0963	.	342;278;342	E5KMH8;Q8N8K8;P36776	.;.;LONM_HUMAN	K	342;306;146	ENSP00000353826:E342K;ENSP00000441523:E146K	ENSP00000351177:E306K	E	-	1	0	LONP1	5658746	1.000000	0.71417	0.991000	0.47740	0.223000	0.24884	7.368000	0.79567	2.111000	0.64477	0.555000	0.69702	GAG		0.662	LONP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451662.1	NM_004793		T	5707746	C	T	5707746	3	4	734	1	0	0	0	0	1	0	0	0	8894	893	31	1	1907	1	LONP1	19	5707746	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1196727	5707746	53421237	897	42316											
FUT6	2528	broad.mit.edu	37	19	5832569	5832569	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:5832569G>T	ENST00000318336.4	-	3	1204	c.10C>A	c.(10-12)Ctg>Atg	p.L4M	FUT6_ENST00000527106.1_Missense_Mutation_p.L4M|FUT6_ENST00000592563.1_Missense_Mutation_p.L4M|FUT6_ENST00000524754.1_Missense_Mutation_p.L4M|FUT6_ENST00000286955.5_Missense_Mutation_p.L4M	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN	fucosyltransferase 6 (alpha (1,3) fucosyltransferase)	4					fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						GCCGGGCCCAGGGGATCCATG	0.572																																																0													24	23	23					19																	5832569		2203	4298	6501	SO:0001583	missense	2528				CCDS12152.1	19p13.3	2013-02-26			ENSG00000156413	ENSG00000156413	2.4.1.65	"Fucosyltransferases"	4017	protein-coding gene	gene with protein product	"alpha-(1,3)-fucosyltransferase", "galactoside 3-L-fucosyltransferase"	136836				1520296, 7782074	Standard	NM_001040701		Approved	FT1A, FCT3A, FucT-VI, FLJ40754	uc002mdh.1	P51993	OTTHUMG00000167335	ENST00000318336.4:c.10C>A	19.37:g.5832569G>T	ENSP00000313398:p.Leu4Met		A6NEX0|D6W637|Q9UND8	Missense_Mutation	SNP	ENST00000318336.4	37	CCDS12152.1	.	.	.	.	.	.	.	.	.	.	G	6.593	0.477774	0.12521	.	.	ENSG00000156413	ENST00000524754;ENST00000527106;ENST00000318336;ENST00000286955;ENST00000341530;ENST00000529165;ENST00000531085;ENST00000531199;ENST00000532464;ENST00000528505	T;T;T;T;T;T;T;T;T	0.60424	1.47;1.47;1.47;1.47;0.73;1.53;1.05;0.95;0.19	3.7	-0.311	0.12761	.	2.076500	0.03294	N	0.188040	T	0.52386	0.1731	L	0.59436	1.845	0.09310	N	1	P;P	0.45283	0.855;0.744	B;B	0.39027	0.288;0.288	T	0.46721	-0.9171	10	0.39692	T	0.17	.	7.2312	0.26043	0.0:0.1502:0.4851:0.3647	.	4;4	C9J8A2;P51993	.;FUT6_HUMAN	M	4	ENSP00000431708:L4M;ENSP00000432954:L4M;ENSP00000313398:L4M;ENSP00000286955:L4M;ENSP00000436547:L4M;ENSP00000432161:L4M;ENSP00000436413:L4M;ENSP00000431880:L4M;ENSP00000433811:L4M	ENSP00000286955:L4M	L	-	1	2	FUT6	5783569	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	0.153000	0.16323	-0.057000	0.13199	0.436000	0.28706	CTG		0.572	FUT6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394218.2	NM_000150		T	5832569	G	T	5832569	3	4	734	1	0	0	0	0	1	0	0	0	6110	991	35	4	1073	4	FUT6	19	5832569	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	124823	5832569	53296414	898	42317											
GPR108	56927	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	19	6733232	6733232	+	Silent	SNP	G	G	A	rs77003966	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:6733232G>A	ENST00000264080.7	-	9	830	c.804C>T	c.(802-804)tcC>tcT	p.S268S	GPR108_ENST00000598626.1_5'Flank|GPR108_ENST00000430424.4_Silent_p.S26S	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	268						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						GGAAGCAGGCGGACATGACCA	0.627													G|||	3	0.000599042	0.0023	0.0	5008	,	,		16773	0.0		0.0	False		,,,				2504	0.0															0								G		9,4243		0,9,2117	60	70	67		804	-6.2	0.9	19	dbSNP_132	67	0,8446		0,0,4223	no	coding-synonymous	GPR108	NM_001080452.1		0,9,6340	AA,AG,GG		0.0,0.2117,0.0709		268/544	6733232	9,12689	2126	4223	6349	SO:0001819	synonymous_variant	56927				CCDS42479.1	19p13.3	2014-01-30				ENSG00000125734		"GPCR / Unclassified : 7TM orphan receptors"	17829	protein-coding gene	gene with protein product							Standard	NM_001080452		Approved	LUSTR2	uc002mfp.3	Q9NPR9	OTTHUMG00000170129	ENST00000264080.7:c.804C>T	19.37:g.6733232G>A			B9EJD7	Silent	SNP	ENST00000264080.7	37	CCDS42479.1																																																																																				0.627	GPR108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407508.2			A	6733232	G	A	6733232	2	1	734	1	0	0	0	0	0	0	0	1	6626	1103	39	1		1	GPR108	19	6733232	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	900663	6733232	52395751	899	42318											
ARHGEF18	23370	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	7505040	7505040	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:7505040C>T	ENST00000359920.6	+	1	467	c.214C>T	c.(214-216)Cgc>Tgc	p.R72C	ARHGEF18_ENST00000319670.9_Intron|CTD-2207O23.3_ENST00000593531.1_Intron	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	72					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)	p.R72C(1)		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)				GCTCCCCGGCCGCCCCGAGCT	0.662																																																1	Substitution - Missense(1)	endometrium(1)											18	23	21					19																	7505040		692	1591	2283	SO:0001583	missense	23370			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.214C>T	19.37:g.7505040C>T	ENSP00000352995:p.Arg72Cys		A8MV62|B5ME81|O60274|Q6DD92	Missense_Mutation	SNP	ENST00000359920.6	37	CCDS45946.1	.	.	.	.	.	.	.	.	.	.	C	9.017	0.983984	0.18889	.	.	ENSG00000104880	ENST00000359920	T	0.31769	1.48	5.49	4.44	0.53790	.	0.551628	0.15055	N	0.283090	T	0.22589	0.0545	N	0.12182	0.205	0.35488	D	0.798702	D	0.65815	0.995	B	0.44315	0.446	T	0.34725	-0.9817	10	0.87932	D	0	-1.0871	13.9825	0.64313	0.0:0.8471:0.1529:0.0	.	72	Q6ZSZ5	ARHGI_HUMAN	C	72	ENSP00000352995:R72C	ENSP00000352995:R72C	R	+	1	0	ARHGEF18	7411040	0.914000	0.31030	0.068000	0.19968	0.180000	0.23129	1.808000	0.38912	1.289000	0.44618	0.561000	0.74099	CGC		0.662	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436340.1	NM_015318		T	7505040	C	T	7505040	3	4	734	1	0	0	0	0	1	0	0	0	901	652	23	1	216	1	ARHGEF18	19	7505040	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	771808	7505040	51623943	900	42319											
ARHGEF18	23370	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	7521290	7521290	+	Splice_Site	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:7521290G>A	ENST00000359920.6	+	8	1870		c.e8+1		ARHGEF18_ENST00000319670.9_Splice_Site|CTD-2207O23.3_ENST00000593531.1_Splice_Site	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18						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)				TGCTTCTGTGGTATGTATCCT	0.502																																																0													265	244	251					19																	7521290		2203	4300	6503	SO:0001630	splice_region_variant	23370			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.1617+1G>A	19.37:g.7521290G>A			A8MV62|B5ME81|O60274|Q6DD92	Splice_Site	SNP	ENST00000359920.6	37	CCDS45946.1	.	.	.	.	.	.	.	.	.	.	G	12.61	1.988343	0.35036	.	.	ENSG00000104880	ENST00000319670;ENST00000359920	.	.	.	4.7	4.7	0.59300	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1329	0.72539	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARHGEF18	7427290	1.000000	0.71417	0.762000	0.31397	0.109000	0.19521	9.177000	0.94849	2.167000	0.68274	0.655000	0.94253	.		0.502	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436340.1	NM_015318	Intron	A	7521290	G	A	7521290	5	1	734	1	0	0	0	0	0	0	1	0	901	1275	44	2	1648	2	ARHGEF18	19	7521290	Splice_Site	SNP	G	TCGA-KN-8428-01A-11D-2310-10	16250	7521290	51607693	901	42320											
PNPLA6	10908	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	7606949	7606949	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:7606949C>T	ENST00000221249.6	+	13	1562	c.1131C>T	c.(1129-1131)atC>atT	p.I377I	PNPLA6_ENST00000600737.1_Silent_p.I416I|PNPLA6_ENST00000545201.2_Silent_p.I377I|PNPLA6_ENST00000414982.3_Silent_p.I425I|PNPLA6_ENST00000450331.3_Silent_p.I377I	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	416					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						CAGGGGACATCTCAGGTTTGG	0.597																																																0													42	41	41					19																	7606949		2203	4300	6503	SO:0001819	synonymous_variant	10908			AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"Patatin-like phospholipase domain containing"	16268	protein-coding gene	gene with protein product	"neuropathy target esterase"	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.1131C>T	19.37:g.7606949C>T			A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Silent	SNP	ENST00000221249.6	37	CCDS32891.1																																																																																				0.597	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	NM_006702		T	7606949	C	T	7606949	2	4	734	1	0	0	0	0	0	0	0	1	12171	903	32	2		2	PNPLA6	19	7606949	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	85659	7606949	51522034	902	42321											
FBN3	84467	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	8201286	8201286	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:8201286C>T	ENST00000600128.1	-	11	1745	c.1331G>A	c.(1330-1332)cGc>cAc	p.R444H	FBN3_ENST00000270509.2_Missense_Mutation_p.R444H|FBN3_ENST00000601739.1_Missense_Mutation_p.R444H			Q75N90	FBN3_HUMAN	fibrillin 3	444	EGF-like 3. {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						GCACTCGCCGCGCACGTCCTG	0.647																																																0													73	68	69					19																	8201286		2203	4300	6503	SO:0001583	missense	84467				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.1331G>A	19.37:g.8201286C>T	ENSP00000470498:p.Arg444His		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	c	14.65	2.598035	0.46318	.	.	ENSG00000142449	ENST00000270509	T	0.29917	1.55	4.4	2.25	0.28309	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	U	0.000000	T	0.17704	0.0425	L	0.37466	1.105	0.31353	N	0.682257	P	0.49253	0.921	B	0.31869	0.137	T	0.15350	-1.0440	10	0.45353	T	0.12	.	10.0282	0.42085	0.0:0.8332:0.0:0.1668	.	444	Q75N90	FBN3_HUMAN	H	444	ENSP00000270509:R444H	ENSP00000270509:R444H	R	-	2	0	FBN3	8107286	0.908000	0.30866	0.002000	0.10522	0.009000	0.06853	2.777000	0.47717	0.313000	0.23062	0.462000	0.41574	CGC		0.647	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		T	8201286	C	T	8201286	3	4	734	1	0	0	0	0	1	0	0	0	5706	768	27	1	7314	1	FBN3	19	8201286	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	594337	8201286	50927697	903	42322											
FBN3	84467	broad.mit.edu	37	19	8209801	8209801	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:8209801G>A	ENST00000600128.1	-	6	915	c.501C>T	c.(499-501)tgC>tgT	p.C167C	FBN3_ENST00000270509.2_Silent_p.C167C|FBN3_ENST00000601739.1_Silent_p.C167C			Q75N90	FBN3_HUMAN	fibrillin 3	167	EGF-like 1. {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						ACACACAGGCGCAGCGGTTGG	0.622																																																0													52	40	44					19																	8209801		2202	4300	6502	SO:0001819	synonymous_variant	84467				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.501C>T	19.37:g.8209801G>A			Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	ENST00000600128.1	37	CCDS12196.1																																																																																				0.622	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		A	8209801	G	A	8209801	2	1	734	1	0	0	0	0	0	0	0	1	5706	1079	38	1		1	FBN3	19	8209801	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	8515	8209801	50919182	904	42323											
MYO1F	4542	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	8592315	8592315	+	Missense_Mutation	SNP	C	C	T	rs201723456	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:8592315C>T	ENST00000338257.8	-	22	2648	c.2381G>A	c.(2380-2382)cGa>cAa	p.R794Q		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	794	Myosin tail. {ECO:0000255}.				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						CACTTTCTCTCGCCCAATCAC	0.562													C|||	2	0.000399361	0.0008	0.0	5008	,	,		21929	0.0		0.0	False		,,,				2504	0.001															0								C	GLN/ARG	0,4020		0,0,2010	83	84	83		2381	5.2	1	19		83	1,8367		0,1,4183	no	missense	MYO1F	NM_012335.3	43	0,1,6193	TT,TC,CC		0.012,0.0,0.0081	possibly-damaging	794/1099	8592315	1,12387	2010	4184	6194	SO:0001583	missense	4542			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.2381G>A	19.37:g.8592315C>T	ENSP00000344871:p.Arg794Gln		Q8WWN7	Missense_Mutation	SNP	ENST00000338257.8	37	CCDS42494.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	27.9	4.876209	0.91664	0.0	1.2E-4	ENSG00000142347	ENST00000305795;ENST00000338257	T	0.35973	1.28	5.16	5.16	0.70880	Myosin tail 2 (1);	0.000000	0.64402	D	0.000001	T	0.32675	0.0837	L	0.52126	1.63	0.80722	D	1	P	0.39022	0.655	B	0.34489	0.184	T	0.08994	-1.0695	10	0.21014	T	0.42	.	17.7053	0.88308	0.0:1.0:0.0:0.0	.	794	O00160	MYO1F_HUMAN	Q	839;794	ENSP00000344871:R794Q	ENSP00000304899:R839Q	R	-	2	0	MYO1F	8498315	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.773000	0.62331	2.430000	0.82344	0.456000	0.33151	CGA		0.562	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2			T	8592315	C	T	8592315	3	4	734	1	0	0	0	0	1	0	0	0	10075	884	31	1	943	1	MYO1F	19	8592315	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	382514	8592315	50536668	905	42324											
OLFM2	93145	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	9967485	9967485	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:9967485G>A	ENST00000264833.4	-	5	870	c.685C>T	c.(685-687)Cgg>Tgg	p.R229W	OLFM2_ENST00000590841.1_Missense_Mutation_p.R151W	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	229	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				protein secretion (GO:0009306)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular region (GO:0005576)|synapse (GO:0045202)				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						TCACTCACCCGGCTATCCGCA	0.647																																																0													22	22	22					19																	9967485		2202	4300	6502	SO:0001583	missense	93145			AF131839	CCDS12221.1	19p13.2	2008-07-03				ENSG00000105088			17189	protein-coding gene	gene with protein product	"noelin 2"						Standard	NM_058164		Approved	OlfC, NOE2	uc002mmp.3	O95897		ENST00000264833.4:c.685C>T	19.37:g.9967485G>A	ENSP00000264833:p.Arg229Trp		Q6IMJ3|Q96FC2	Missense_Mutation	SNP	ENST00000264833.4	37	CCDS12221.1	.	.	.	.	.	.	.	.	.	.	G	19.50	3.839856	0.71488	.	.	ENSG00000105088	ENST00000264833	D	0.89746	-2.56	4.45	3.4	0.38934	Olfactomedin-like (3);	0.000000	0.85682	D	0.000000	D	0.94251	0.8154	M	0.88704	2.975	0.53688	D	0.99997	D	0.89917	1.0	D	0.91635	0.999	D	0.93817	0.7115	9	.	.	.	.	9.735	0.40382	0.0:0.0:0.6267:0.3732	.	229	O95897	NOE2_HUMAN	W	229	ENSP00000264833:R229W	.	R	-	1	2	OLFM2	9828485	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	0.534000	0.23098	1.069000	0.40788	0.563000	0.77884	CGG		0.647	OLFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451119.1			A	9967485	G	A	9967485	3	1	734	1	0	0	0	0	1	0	0	0	10855	1115	39	1	687	1	OLFM2	19	9967485	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1375170	9967485	49161498	906	42325											
DNMT1	1786	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	10246467	10246467	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:10246467T>C	ENST00000340748.4	-	38	4905	c.4670A>G	c.(4669-4671)cAg>cGg	p.Q1557R	DNMT1_ENST00000540357.1_Missense_Mutation_p.Q1560R|DNMT1_ENST00000359526.4_Missense_Mutation_p.Q1573R			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1557	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)	AGGGAAGCCCTGGGAGCGGGC	0.697																																																0													22	21	21					19																	10246467		2198	4297	6495	SO:0001583	missense	1786			X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.4670A>G	19.37:g.10246467T>C	ENSP00000345739:p.Gln1557Arg		A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	ENST00000340748.4	37	CCDS12228.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.530539	0.85706	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	T;T;T	0.56275	0.47;0.47;0.47	5.22	4.17	0.49024	.	0.000000	0.85682	D	0.000000	T	0.82217	0.4989	H	0.98883	4.36	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	D	0.86248	0.1647	10	0.87932	D	0	-37.846	11.1333	0.48360	0.0:0.0:0.1553:0.8447	.	1560;1573;1557	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	R	1573;1560;1557;1425	ENSP00000352516:Q1573R;ENSP00000440457:Q1560R;ENSP00000345739:Q1557R	ENSP00000345739:Q1557R	Q	-	2	0	DNMT1	10107467	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.749000	0.85096	0.779000	0.33543	0.459000	0.35465	CAG		0.697	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		C	10246467	T	C	10246467	3	2	734	1	0	0	0	0	1	0	0	0	4677	1580	55	3	192	3	DNMT1	19	10246467	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	278982	10246467	48882516	907	42326											
ICAM4	3386	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	10398019	10398019	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:10398019G>A	ENST00000380770.3	+	1	377	c.331G>A	c.(331-333)Gcg>Acg	p.A111T	ICAM4_ENST00000393717.2_Missense_Mutation_p.A111T|ICAM4_ENST00000340992.4_Missense_Mutation_p.A111T|CTD-2369P2.5_ENST00000592893.1_RNA|ICAM5_ENST00000221980.4_5'Flank|CTD-2369P2.8_ENST00000589379.1_RNA	NM_001544.4	NP_001535.1	Q14773	ICAM4_HUMAN	intercellular adhesion molecule 4 (Landsteiner-Wiener blood group)	111	Ig-like C2-type 1.				extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)			breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GAGCTCCCTCGCGCACTGCCT	0.677																																																0													20	21	20					19																	10398019		2203	4300	6503	SO:0001583	missense	3386			X93093	CCDS12232.1, CCDS32904.1, CCDS42500.1	19p13.2	2014-07-19	2006-02-23		ENSG00000105371	ENSG00000105371		"CD molecules", "Blood group antigens", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5347	protein-coding gene	gene with protein product		614088	"intercellular adhesion molecule 4, Landsteiner-Wiener blood group", "Landsteiner-Wiener blood group", "intercellular adhesion molecule 4 (LW blood group)"	LW		8639917, 6431896	Standard	NM_001039132		Approved	CD242	uc002mnr.2	Q14773	OTTHUMG00000180405	ENST00000380770.3:c.331G>A	19.37:g.10398019G>A	ENSP00000370147:p.Ala111Thr		A0M8X2|Q14771|Q14772|Q16375|Q9BWR0	Missense_Mutation	SNP	ENST00000380770.3	37	CCDS12232.1	.	.	.	.	.	.	.	.	.	.	G	10.68	1.419667	0.25552	.	.	ENSG00000105371	ENST00000340992;ENST00000380770;ENST00000393717	T;T;T	0.21932	1.98;1.98;1.98	4.18	4.18	0.49190	Intercellular adhesion molecule, N-terminal (1);Immunoglobulin-like fold (1);	0.677075	0.13608	N	0.375336	T	0.20007	0.0481	N	0.22421	0.69	0.09310	N	1	D;D;D	0.57899	0.981;0.958;0.977	B;B;P	0.49047	0.356;0.353;0.599	T	0.06789	-1.0807	10	0.34782	T	0.22	-1.6884	11.8729	0.52531	0.0:0.0:1.0:0.0	.	111;111;111	Q14773-2;Q14773;Q9BWR0	.;ICAM4_HUMAN;.	T	111	ENSP00000342114:A111T;ENSP00000370147:A111T;ENSP00000377320:A111T	ENSP00000342114:A111T	A	+	1	0	ICAM4	10259019	0.125000	0.22332	0.004000	0.12327	0.006000	0.05464	4.235000	0.58666	2.162000	0.67917	0.491000	0.48974	GCG		0.677	ICAM4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000451214.1	NM_001544		A	10398019	G	A	10398019	3	1	734	1	0	0	0	0	1	0	0	0	7484	1087	38	1	333	1	ICAM4	19	10398019	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	151552	10398019	48730964	908	42327											
TYK2	7297	ucsc.edu;mdanderson.org;bcgsc.ca	37	19	10477123	10477123	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:10477123A>G	ENST00000525621.1	-	6	1080	c.599T>C	c.(598-600)aTc>aCc	p.I200T	TYK2_ENST00000524462.1_Missense_Mutation_p.I15T|TYK2_ENST00000529370.1_Missense_Mutation_p.I200T|TYK2_ENST00000264818.6_Missense_Mutation_p.I200T	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	200	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CTCCAGGGGGATGCCATGGCG	0.607																																																0													94	86	89					19																	10477123		2203	4300	6503	SO:0001583	missense	7297				CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.599T>C	19.37:g.10477123A>G	ENSP00000431885:p.Ile200Thr		Q6QB10|Q96CH0	Missense_Mutation	SNP	ENST00000525621.1	37	CCDS12236.1	.	.	.	.	.	.	.	.	.	.	A	8.411	0.844139	0.16963	.	.	ENSG00000105397	ENST00000524462;ENST00000525621;ENST00000264818;ENST00000529370	T;T;T;T	0.75154	-0.91;0.95;0.95;0.95	5.15	5.15	0.70609	FERM central domain (1);Band 4.1 domain (1);FERM domain (1);	0.510102	0.15582	N	0.254823	T	0.61664	0.2365	L	0.34521	1.04	0.23260	N	0.99802	B;B	0.31769	0.339;0.061	B;B	0.24701	0.055;0.044	T	0.50224	-0.8853	10	0.21540	T	0.41	-38.9989	12.9524	0.58409	1.0:0.0:0.0:0.0	.	200;200	E9PPF2;P29597	.;TYK2_HUMAN	T	15;200;200;200	ENSP00000433203:I15T;ENSP00000431885:I200T;ENSP00000264818:I200T;ENSP00000432728:I200T	ENSP00000264818:I200T	I	-	2	0	TYK2	10338123	0.002000	0.14202	0.933000	0.37362	0.262000	0.26303	1.690000	0.37711	1.943000	0.56356	0.460000	0.39030	ATC		0.607	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1			G	10477123	A	G	10477123	3	3	734	1	0	0	0	0	1	0	0	0	16815	333	12	3	3044	3	TYK2	19	10477123	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	79104	10477123	48651860	909	42328											
AP1M2	10053	ucsc.edu;mdanderson.org;bcgsc.ca	37	19	10692022	10692022	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:10692022A>G	ENST00000250244.6	-	6	675	c.593T>C	c.(592-594)aTc>aCc	p.I198T	AP1M2_ENST00000590923.1_Missense_Mutation_p.I198T	NM_005498.4	NP_005489.2	Q9Y6Q5	AP1M2_HUMAN	adaptor-related protein complex 1, mu 2 subunit	198	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)			CTTGAGCTTGATGGTACCGAC	0.562											OREG0025241	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													56	57	57					19																	10692022		2065	4220	6285	SO:0001583	missense	10053			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.593T>C	19.37:g.10692022A>G	ENSP00000250244:p.Ile198Thr	666	B2RDV5|Q9BSI8	Missense_Mutation	SNP	ENST00000250244.6	37	CCDS45964.1	.	.	.	.	.	.	.	.	.	.	a	22.3	4.268826	0.80469	.	.	ENSG00000129354	ENST00000250244	T	0.32988	1.43	5.28	4.25	0.50352	Clathrin adaptor, mu subunit, C-terminal (3);	0.119066	0.56097	D	0.000037	T	0.62950	0.2470	H	0.97315	3.98	0.54753	D	0.999986	P;B	0.47034	0.889;0.065	P;B	0.55222	0.771;0.093	T	0.73040	-0.4108	10	0.87932	D	0	-44.2162	11.4368	0.50072	0.8485:0.1515:0.0:0.0	.	198;198	Q9Y6Q5-2;Q9Y6Q5	.;AP1M2_HUMAN	T	198	ENSP00000250244:I198T	ENSP00000250244:I198T	I	-	2	0	AP1M2	10553022	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	9.284000	0.95882	0.832000	0.34804	0.449000	0.29647	ATC		0.562	AP1M2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452034.1			G	10692022	A	G	10692022	3	3	734	1	0	0	0	0	1	0	0	0	735	333	12	3	706	3	AP1M2	19	10692022	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	214899	10692022	48436961	910	42329											
ILF3	3609	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	19	10794618	10794618	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:10794618C>T	ENST00000590261.1	+	16	2031	c.2031C>T	c.(2029-2031)taC>taT	p.Y677Y	ILF3_ENST00000407004.3_Silent_p.Y681Y|ILF3_ENST00000449870.1_Silent_p.Y681Y|ILF3_ENST00000420083.1_Silent_p.Y677Y|ILF3_ENST00000589998.1_Silent_p.Y677Y|ILF3_ENST00000592763.1_Silent_p.Y681Y|ILF3_ENST00000588657.1_Silent_p.Y681Y|ILF3_ENST00000318511.3_Silent_p.Y677Y|ILF3_ENST00000250241.8_Silent_p.Y677Y			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	677	Interaction with PRMT1.				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)			GCTATGGGTACGGAGGCAACT	0.582																																																0													169	139	149					19																	10794618		2203	4300	6503	SO:0001819	synonymous_variant	3609			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.2031C>T	19.37:g.10794618C>T			A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Silent	SNP	ENST00000590261.1	37	CCDS12246.1																																																																																				0.582	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1			T	10794618	C	T	10794618	2	4	734	1	0	0	0	0	0	0	0	1	7714	547	19	1		1	ILF3	19	10794618	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	102596	10794618	48334365	911	42330											
QTRT1	81890	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	19	10818003	10818003	+	Silent	SNP	C	C	T	rs151104617		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:10818003C>T	ENST00000250237.5	+	4	487	c.477C>T	c.(475-477)gaC>gaT	p.D159D	QTRT1_ENST00000585885.1_3'UTR	NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	159					queuosine biosynthetic process (GO:0008616)|tRNA modification (GO:0006400)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|queuine tRNA-ribosyltransferase activity (GO:0008479)			large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			TGCAGCTGGACGACGTGGTTA	0.567																																																0								C		1,4405	2.1+/-5.4	0,1,2202	334	247	277		477	-3.2	0.3	19	dbSNP_134	277	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	QTRT1	NM_031209.2		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		159/404	10818003	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	81890			AF302783	CCDS12248.1	19p13.3	2014-06-11	2008-07-31		ENSG00000213339	ENSG00000213339	2.4.2.29		23797	protein-coding gene	gene with protein product	"tRNA-guanine transglycosylase"	609615				20354154	Standard	NM_031209		Approved	TGT	uc002mpr.3	Q9BXR0		ENST00000250237.5:c.477C>T	19.37:g.10818003C>T			B4DFM7|Q96BQ4|Q9BXQ9	Silent	SNP	ENST00000250237.5	37	CCDS12248.1																																																																																				0.567	QTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452086.1	NM_031209		T	10818003	C	T	10818003	2	4	734	1	0	0	0	0	0	0	0	1	12891	535	19	1		1	QTRT1	19	10818003	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	23385	10818003	48310980	912	42331											
TMEM205	374882	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	19	11453630	11453630	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:11453630C>T	ENST00000354882.5	-	3	857	c.431G>A	c.(430-432)cGa>cAa	p.R144Q	TMEM205_ENST00000586956.1_Missense_Mutation_p.R144Q|RAB3D_ENST00000589655.1_Intron|TMEM205_ENST00000589555.1_Missense_Mutation_p.R144Q|TMEM205_ENST00000588560.1_Missense_Mutation_p.R144Q|TMEM205_ENST00000586590.1_Missense_Mutation_p.R144Q|TMEM205_ENST00000447337.1_Missense_Mutation_p.R144Q|TMEM205_ENST00000586218.1_Missense_Mutation_p.R83Q|TMEM205_ENST00000587948.1_Missense_Mutation_p.R144Q|CCDC159_ENST00000588790.1_5'Flank|TMEM205_ENST00000593256.2_Missense_Mutation_p.R144Q			Q6UW68	TM205_HUMAN	transmembrane protein 205	144						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(1)|lung(1)	2						GTCCTTCTCTCGCAGCTGGCG	0.622																																																0													99	89	93					19																	11453630		2203	4300	6503	SO:0001583	missense	374882			AK127147	CCDS32909.1	19p13.2	2008-01-09				ENSG00000105518			29631	protein-coding gene	gene with protein product		613771				12975309	Standard	NM_198536		Approved	UNQ501, MBC3205	uc002mrb.2	Q6UW68		ENST00000354882.5:c.431G>A	19.37:g.11453630C>T	ENSP00000346954:p.Arg144Gln			Missense_Mutation	SNP	ENST00000354882.5	37	CCDS32909.1	.	.	.	.	.	.	.	.	.	.	C	11.25	1.582875	0.28268	.	.	ENSG00000105518	ENST00000354882;ENST00000447337	.	.	.	4.96	0.39	0.16275	.	0.078138	0.51477	U	0.000099	T	0.44329	0.1288	L	0.55103	1.725	0.37141	D	0.90169	B	0.11235	0.004	B	0.09377	0.004	T	0.33420	-0.9869	9	0.13108	T	0.6	-15.8945	8.4711	0.32986	0.0:0.5096:0.0:0.4904	.	144	Q6UW68	TM205_HUMAN	Q	144	.	ENSP00000346954:R144Q	R	-	2	0	TMEM205	11314630	0.258000	0.24033	0.360000	0.25837	0.555000	0.35460	0.735000	0.26115	0.001000	0.14605	-0.768000	0.03414	CGA		0.622	TMEM205-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458743.1	NM_198536		T	11453630	C	T	11453630	3	4	734	1	0	0	0	0	1	0	0	0	16135	884	31	1	142	1	TMEM205	19	11453630	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	635627	11453630	47675353	913	42332											
ELAVL3	1995	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	19	11568980	11568980	+	Silent	SNP	C	C	T	rs547655016		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:11568980C>T	ENST00000359227.3	-	5	1033	c.609G>A	c.(607-609)gcG>gcA	p.A203A	ELAVL3_ENST00000438662.2_Silent_p.A203A	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN	ELAV like neuron-specific RNA binding protein 3	203	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)		AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)	p.A203A(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						TTGGGTTGTTCGCGAACTTGA	0.602													C|||	1	0.000199681	0.0	0.0	5008	,	,		17572	0.0		0.001	False		,,,				2504	0.0															1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)											88	77	81					19																	11568980		2203	4300	6503	SO:0001819	synonymous_variant	1995				CCDS32912.1, CCDS45978.1	19p13.2	2013-10-03	2013-10-03			ENSG00000196361		"RNA binding motif (RRM) containing"	3314	protein-coding gene	gene with protein product	"Hu antigen C", "paraneoplastic limbic encephalitis antigen 21", "paraneoplastic cerebellar degeneration-associated antigen", "ELAV-like protein 3"	603458	"ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C)"			9799595	Standard	NM_001420		Approved	HUC, PLE21, DKFZp547J036, HUCL, MGC20653	uc002mry.1	Q14576		ENST00000359227.3:c.609G>A	19.37:g.11568980C>T			Q16135|Q96CL8|Q96QS9	Silent	SNP	ENST00000359227.3	37	CCDS32912.1																																																																																				0.602	ELAVL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458827.2	NM_001420		T	11568980	C	T	11568980	2	4	734	1	0	0	0	0	0	0	0	1	5053	871	31	1		1	ELAVL3	19	11568980	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	115350	11568980	47560003	914	42333											
ZNF653	115950	ucsc.edu;mdanderson.org;bcgsc.ca	37	19	11598527	11598527	+	Missense_Mutation	SNP	C	C	T	rs140179197	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:11598527C>T	ENST00000293771.5	-	4	887	c.751G>A	c.(751-753)Gtg>Atg	p.V251M	CTC-398G3.6_ENST00000585656.1_Intron	NM_138783.3	NP_620138.2	Q96CK0	ZN653_HUMAN	zinc finger protein 653	251					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)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						AGGCTTTCCACGTGGTGGACG	0.687													C|||	9	0.00179712	0.0008	0.0014	5008	,	,		12948	0.0		0.005	False		,,,				2504	0.002				Pancreas(83;980 1446 4542 6441 43352)											0								C	MET/VAL	17,4389	21.2+/-45.6	0,17,2186	52	49	50		751	3.2	1	19	dbSNP_134	50	46,8554	28.5+/-78.6	0,46,4254	yes	missense	ZNF653	NM_138783.3	21	0,63,6440	TT,TC,CC		0.5349,0.3858,0.4844	benign	251/616	11598527	63,12943	2203	4300	6503	SO:0001583	missense	115950			AY072704	CCDS12261.1	19p13.2	2013-01-08						"Zinc fingers, C2H2-type"	25196	protein-coding gene	gene with protein product		611371				12477932	Standard	NM_138783		Approved	Zip67	uc002mrz.2	Q96CK0		ENST00000293771.5:c.751G>A	19.37:g.11598527C>T	ENSP00000293771:p.Val251Met		Q96AS7	Missense_Mutation	SNP	ENST00000293771.5	37	CCDS12261.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	C	9.411	1.080482	0.20309	0.003858	0.005349	ENSG00000161914	ENST00000293771	T	0.11169	2.8	4.49	3.2	0.36748	.	0.848002	0.10512	N	0.665997	T	0.03220	0.0094	N	0.03608	-0.345	0.32087	N	0.592312	B	0.22211	0.066	B	0.12156	0.007	T	0.07009	-1.0795	10	0.56958	D	0.05	-30.1147	6.9266	0.24418	0.0:0.7833:0.0:0.2167	.	251	Q96CK0	ZN653_HUMAN	M	251	ENSP00000293771:V251M	ENSP00000293771:V251M	V	-	1	0	ZNF653	11459527	0.988000	0.35896	0.998000	0.56505	0.571000	0.35966	0.664000	0.25068	2.210000	0.71456	0.561000	0.74099	GTG		0.687	ZNF653-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458836.2	NM_138783		T	11598527	C	T	11598527	3	4	734	1	0	0	0	0	1	0	0	0	18071	536	19	1	1120	1	ZNF653	19	11598527	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	29547	11598527	47530456	915	42334											
ZNF441	126068	broad.mit.edu	37	19	11891522	11891522	+	Missense_Mutation	SNP	T	T	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:11891522T>G	ENST00000357901.4	+	4	985	c.883T>G	c.(883-885)Ttt>Gtt	p.F295V	ZNF441_ENST00000454339.2_Missense_Mutation_p.F228V	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	295					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCTTGGAAGCTTTCAAAGACA	0.393																																																0													100	101	101					19																	11891522		2203	4300	6503	SO:0001583	missense	126068			AK095956	CCDS12266.2	19p13.13	2013-01-08			ENSG00000197044	ENSG00000197044		"Zinc fingers, C2H2-type", "-"	20875	protein-coding gene	gene with protein product							Standard	NM_152355		Approved	FLJ38637	uc010dyj.3	Q8N8Z8	OTTHUMG00000154449	ENST00000357901.4:c.883T>G	19.37:g.11891522T>G	ENSP00000350576:p.Phe295Val			Missense_Mutation	SNP	ENST00000357901.4	37	CCDS12266.2	.	.	.	.	.	.	.	.	.	.	-	14.82	2.650710	0.47362	.	.	ENSG00000197044	ENST00000409902;ENST00000357901;ENST00000454339	T;T	0.18338	2.22;2.22	0.998	-1.72	0.08107	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13415	0.0325	L	0.33189	0.99	0.09310	N	1	B	0.28713	0.22	B	0.34652	0.187	T	0.35574	-0.9783	9	0.72032	D	0.01	.	6.5207	0.22272	0.0:0.4892:0.0:0.5108	.	295	Q8N8Z8	ZN441_HUMAN	V	251;295;228	ENSP00000350576:F295V;ENSP00000403738:F228V	ENSP00000350576:F295V	F	+	1	0	ZNF441	11752522	0.000000	0.05858	0.005000	0.12908	0.776000	0.43924	-0.479000	0.06567	-0.701000	0.05063	0.248000	0.18094	TTT		0.393	ZNF441-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335273.3	NM_152355		G	11891522	T	G	11891522	3	3	734	1	0	0	0	0	1	0	0	0	17919	1609	56	5	897	5	ZNF441	19	11891522	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	292995	11891522	47237461	916	42335											
ZNF441	126068	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	19	11892622	11892622	+	Silent	SNP	T	T	C	rs376601123		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:11892622T>C	ENST00000357901.4	+	4	2085	c.1983T>C	c.(1981-1983)caT>caC	p.H661H	ZNF441_ENST00000454339.2_Silent_p.H594H	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	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)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTCATAAACATGAAAGGACCC	0.388																																																0								T		1,4405	2.1+/-5.4	0,1,2202	70	74	73		1983	0.1	0	19		73	0,8600		0,0,4300	no	coding-synonymous	ZNF441	NM_152355.2		0,1,6502	CC,CT,TT		0.0,0.0227,0.0077		661/694	11892622	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	126068			AK095956	CCDS12266.2	19p13.13	2013-01-08			ENSG00000197044	ENSG00000197044		"Zinc fingers, C2H2-type", "-"	20875	protein-coding gene	gene with protein product							Standard	NM_152355		Approved	FLJ38637	uc010dyj.3	Q8N8Z8	OTTHUMG00000154449	ENST00000357901.4:c.1983T>C	19.37:g.11892622T>C				Silent	SNP	ENST00000357901.4	37	CCDS12266.2																																																																																				0.388	ZNF441-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335273.3	NM_152355		C	11892622	T	C	11892622	2	2	734	1	0	0	0	0	0	0	0	1	17919	1461	51	3		3	ZNF441	19	11892622	Silent	SNP	T	TCGA-KN-8428-01A-11D-2310-10	1100	11892622	47236361	917	42336											
ZNF878	729747	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	12155144	12155144	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:12155144C>T	ENST00000547628.1	-	4	1209	c.1072G>A	c.(1072-1074)Gaa>Aaa	p.E358K	ZNF878_ENST00000602107.1_Missense_Mutation_p.E405K|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	358					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						TGTGTCCTTTCATGTATTCGA	0.388																																																0													46	51	49					19																	12155144		2194	4296	6490	SO:0001583	missense	729747				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.1072G>A	19.37:g.12155144C>T	ENSP00000447931:p.Glu358Lys			Missense_Mutation	SNP	ENST00000547628.1	37	CCDS45984.2	.	.	.	.	.	.	.	.	.	.	C	12.44	1.939478	0.34189	.	.	ENSG00000257446;ENSG00000232371	ENST00000547628;ENST00000440730	T	0.07327	3.2	1.29	-2.13	0.07144	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06554	0.0168	L	0.28014	0.82	0.09310	N	1	P	0.45283	0.855	P	0.46850	0.529	T	0.35375	-0.9791	9	0.26408	T	0.33	.	4.3632	0.11211	0.0:0.2994:0.4899:0.2107	.	358	C9JN71	ZN878_HUMAN	K	358;405	ENSP00000447931:E358K	ENSP00000447931:E358K	E	-	1	0	AC022415.4;ZNF878	12016144	0.000000	0.05858	0.001000	0.08648	0.520000	0.34377	-0.192000	0.09587	-0.128000	0.11641	0.305000	0.20034	GAA		0.388	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404		T	12155144	C	T	12155144	3	4	734	1	0	0	0	0	1	0	0	0	18201	835	29	2	527	2	ZNF878	19	12155144	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	262522	12155144	46973839	918	42337											
ZNF799	90576	bcgsc.ca	37	19	12502787	12502787	+	Missense_Mutation	SNP	G	G	A	rs12974755	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:12502787G>A	ENST00000430385.3	-	4	625	c.425C>T	c.(424-426)aCg>aTg	p.T142M	CTD-3105H18.14_ENST00000435033.1_Intron|CTD-3105H18.16_ENST00000595562.1_Missense_Mutation_p.T142M|ZNF799_ENST00000419318.1_Missense_Mutation_p.T110M	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	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)			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TTGTTTATGCGTATCTGGCTT	0.423													G|||	443	0.0884585	0.0174	0.0793	5008	,	,		22280	0.0585		0.1501	False		,,,				2504	0.1585															0								G	MET/THR	191,4215	123.7+/-161.0	5,181,2017	163	154	158		425	-0.8	0	19	dbSNP_121	158	1319,7281	260.2+/-283.1	101,1117,3082	no	missense	ZNF799	NM_001080821.2	81	106,1298,5099	AA,AG,GG		15.3372,4.335,11.61	possibly-damaging	142/644	12502787	1510,11496	2203	4300	6503	SO:0001583	missense	90576			BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"Zinc fingers, C2H2-type", "-"	28071	protein-coding gene	gene with protein product			"zinc finger protein 842"	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.425C>T	19.37:g.12502787G>A	ENSP00000411084:p.Thr142Met			Missense_Mutation	SNP	ENST00000430385.3	37	CCDS45989.1	185	0.08470695970695971	11	0.022357723577235773	33	0.09116022099447514	26	0.045454545454545456	115	0.1517150395778364	G	11.07	1.529300	0.27387	0.04335	0.153372	ENSG00000196466	ENST00000419318;ENST00000430385	T;T	0.08458	3.09;3.22	1.0	-0.771	0.11002	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00073	0.0002	M	0.64997	1.995	0.80722	P	0.0	D	0.65815	0.995	P	0.54060	0.741	T	0.16041	-1.0416	8	0.72032	D	0.01	.	6.2771	0.20987	0.0:0.0:0.6435:0.3565	rs12974755	142	Q96GE5	ZN799_HUMAN	M	110;142	ENSP00000415278:T110M;ENSP00000411084:T142M	ENSP00000415278:T110M	T	-	2	0	ZNF799	12363787	0.001000	0.12720	0.005000	0.12908	0.287000	0.27160	-0.024000	0.12435	-0.311000	0.08754	0.430000	0.28490	ACG		0.423	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821		A	12502787	G	A	12502787	3	1	734	1	0	0	0	0	1	0	0	0	18171	1145	40	1	1510	1	ZNF799	19	12502787	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	347643	12502787	46626196	919	42338											
ZNF709	163051	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	12574914	12574914	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:12574914G>A	ENST00000397732.3	-	4	1993	c.1822C>T	c.(1822-1824)Cga>Tga	p.R608*	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Nonsense_Mutation_p.R608*	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	608					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(3)|upper_aerodigestive_tract(3)	6						GTGTGAGTTCGTTCATGGATT	0.428																																					GBM(33;565 669 12371 29134 51667)											0													139	149	145					19																	12574914		2203	4300	6503	SO:0001587	stop_gained	163051			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.1822C>T	19.37:g.12574914G>A	ENSP00000380840:p.Arg608*		A8K4E6	Nonsense_Mutation	SNP	ENST00000397732.3	37	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	g	38	6.779989	0.97833	.	.	ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000428311	.	.	.	2.79	-0.572	0.11745	.	.	.	.	.	.	.	.	.	.	.	0.42414	D	0.992616	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.2002	0.15260	0.0:0.211:0.1661:0.6228	.	.	.	.	X	608	.	ENSP00000404127:R608X	R	-	1	2	ZNF709;CTD-2192J16.17	12435914	0.000000	0.05858	0.000000	0.03702	0.135000	0.20990	-0.742000	0.04850	-0.192000	0.10432	-1.077000	0.02231	CGA		0.428	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		A	12574914	G	A	12574914	4	1	734	1	0	0	0	0	0	1	0	0	18118	1153	40	1	107	1	ZNF709	19	12574914	Nonsense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	72127	12574914	46554069	920	42339											
TNPO2	30000	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	19	12812988	12812988	+	Missense_Mutation	SNP	C	C	T	rs368882556		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:12812988C>T	ENST00000592287.1	-	21	2417	c.2309G>A	c.(2308-2310)cGc>cAc	p.R770H	TNPO2_ENST00000356861.5_Intron|TNPO2_ENST00000425528.1_Missense_Mutation_p.R770H|TNPO2_ENST00000441499.1_Intron|TNPO2_ENST00000450764.2_Intron|TNPO2_ENST00000588216.1_Intron	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	770					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						ACTCGTCAGGCGACCTGCAAC	0.682																																																0								C	,HIS/ARG,	0,4222		0,0,2111	30	37	35		,2309,	3.1	1	19		35	1,8433		0,1,4216	no	intron,missense,intron	TNPO2	NM_001136195.1,NM_001136196.1,NM_013433.4	,29,	0,1,6327	TT,TC,CC		0.0119,0.0,0.0079	,benign,	,770/898,	12812988	1,12655	2111	4217	6328	SO:0001583	missense	30000			AF019039	CCDS45991.1, CCDS45992.1	19p13.13	2009-01-12	2009-01-12			ENSG00000105576		"Importins"	19998	protein-coding gene	gene with protein product	"importin 3", "karyopherin beta 2b"	603002				9298975, 12384575	Standard	NM_013433		Approved	IPO3, KPNB2B, FLJ12155, TRN2	uc002muo.3	O14787		ENST00000592287.1:c.2309G>A	19.37:g.12812988C>T	ENSP00000468434:p.Arg770His		O14655|Q6IN77	Missense_Mutation	SNP	ENST00000592287.1	37	CCDS45991.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.460680	0.43736	0.0	1.19E-4	ENSG00000105576	ENST00000425528;ENST00000450764	T	0.22945	1.93	5.26	3.08	0.35506	Armadillo-like helical (1);Armadillo-type fold (1);	0.554792	0.17271	N	0.180376	T	0.08980	0.0222	N	0.14661	0.345	0.80722	D	1	P	0.46457	0.878	B	0.21360	0.034	T	0.24154	-1.0168	9	.	.	.	-17.3437	7.4918	0.27466	0.1649:0.7487:0.0:0.0864	.	770	O14787	TNPO2_HUMAN	H	770	ENSP00000407182:R770H	.	R	-	2	0	TNPO2	12673988	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.150000	0.31639	0.563000	0.29222	0.561000	0.74099	CGC		0.682	TNPO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450785.1	NM_013433		T	12812988	C	T	12812988	3	4	734	1	0	0	0	0	1	0	0	0	16341	768	27	1	400	1	TNPO2	19	12812988	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	238074	12812988	46315995	921	42340											
BEST2	54831	broad.mit.edu	37	19	12865478	12865478	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:12865478C>T	ENST00000549706.1	+	4	684	c.360C>T	c.(358-360)cgC>cgT	p.R120R	BEST2_ENST00000553030.1_Silent_p.R120R|BEST2_ENST00000042931.1_Silent_p.R120R			Q8NFU1	BEST2_HUMAN	bestrophin 2	120					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						GCGACGACCGCGGCCGCCTCT	0.697																																																0													11	12	12					19																	12865478		2086	4168	6254	SO:0001819	synonymous_variant	54831			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.360C>T	19.37:g.12865478C>T			Q53YQ8|Q9NXP0	Silent	SNP	ENST00000549706.1	37	CCDS42506.1																																																																																				0.697	BEST2-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403343.1	NM_017682		T	12865478	C	T	12865478	2	4	734	1	0	0	0	0	0	0	0	1	1405	755	27	1		1	BEST2	19	12865478	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	52490	12865478	46263505	922	42341											
NFIX	4784	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	13183866	13183866	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:13183866G>A	ENST00000592199.1	+	3	565	c.565G>A	c.(565-567)Gga>Aga	p.G189R	NFIX_ENST00000397661.2_Missense_Mutation_p.G189R|NFIX_ENST00000358552.3_Missense_Mutation_p.G188R|NFIX_ENST00000360105.4_Missense_Mutation_p.G192R|NFIX_ENST00000585575.1_Missense_Mutation_p.G181R|NFIX_ENST00000588228.1_Missense_Mutation_p.G142R|AC007787.2_ENST00000588095.1_RNA|NFIX_ENST00000588680.1_3'UTR|NFIX_ENST00000587760.1_Missense_Mutation_p.G181R|NFIX_ENST00000587260.1_Missense_Mutation_p.G188R			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)	189					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)			TGCAGAATCCGGACAATCAGA	0.557																																																0													138	139	139					19																	13183866		2015	4165	6180	SO:0001583	missense	4784			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.565G>A	19.37:g.13183866G>A	ENSP00000467512:p.Gly189Arg		B4DM25|O60413|Q0VG09|Q12859|Q13050|Q13052|Q5U094|Q9UPH1|Q9Y6R8	Missense_Mutation	SNP	ENST00000592199.1	37		.	.	.	.	.	.	.	.	.	.	G	24.0	4.480896	0.84747	.	.	ENSG00000008441	ENST00000397661;ENST00000360105;ENST00000264825;ENST00000438869;ENST00000358552	T;T	0.45276	0.91;0.9	4.59	4.59	0.56863	CTF transcription factor/nuclear factor 1, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.58864	0.2152	L	0.55481	1.735	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	T	0.59177	-0.7503	10	0.48119	T	0.1	.	14.6799	0.69009	0.0:0.0:1.0:0.0	.	197;188;192;189;189	B4DHW2;Q14938-5;F8W8H9;Q14938;Q14938-3	.;.;.;NFIX_HUMAN;.	R	189;189;192;142;188	ENSP00000380781:G189R;ENSP00000351354:G188R	ENSP00000264825:G192R	G	+	1	0	NFIX	13044866	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.228000	0.89789	2.280000	0.76307	0.462000	0.41574	GGA		0.557	NFIX-013	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000452763.1	NM_002501		A	13183866	G	A	13183866	3	1	734	1	0	0	0	0	1	0	0	0	10376	1117	39	1	575	1	NFIX	19	13183866	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	318388	13183866	45945117	923	42342											
NFIX	4784	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	19	13186460	13186460	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:13186460C>T	ENST00000592199.1	+	6	930	c.930C>T	c.(928-930)agC>agT	p.S310S	NFIX_ENST00000397661.2_Silent_p.S310S|NFIX_ENST00000358552.3_Silent_p.S309S|NFIX_ENST00000360105.4_Silent_p.S313S|NFIX_ENST00000585575.1_Silent_p.S302S|NFIX_ENST00000588228.1_Silent_p.S263S|NFIX_ENST00000587760.1_Silent_p.S302S|NFIX_ENST00000587260.1_Silent_p.S309S			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)	310					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)			GCCAGTCCAGCGGGTGGCCCA	0.607																																																0													26	32	30					19																	13186460		2038	4192	6230	SO:0001819	synonymous_variant	4784			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.930C>T	19.37:g.13186460C>T			B4DM25|O60413|Q0VG09|Q12859|Q13050|Q13052|Q5U094|Q9UPH1|Q9Y6R8	Silent	SNP	ENST00000592199.1	37																																																																																					0.607	NFIX-013	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000452763.1	NM_002501		T	13186460	C	T	13186460	2	4	734	1	0	0	0	0	0	0	0	1	10376	767	27	1		1	NFIX	19	13186460	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	2594	13186460	45942523	924	42343											
NACC1	112939	broad.mit.edu;bcgsc.ca	37	19	13248350	13248350	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:13248350C>T	ENST00000292431.4	+	5	1411	c.1285C>T	c.(1285-1287)Cgg>Tgg	p.R429W	CTC-250I14.3_ENST00000591825.1_RNA	NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN	nucleus accumbens associated 1, BEN and BTB (POZ) domain containing	429	BEN. {ECO:0000255|PROSITE- ProRule:PRU00784}.				negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear body (GO:0016604)|nucleus (GO:0005634)				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						CGATCCCCGTCGGAAGCCCCT	0.652																																																0													17	17	17					19																	13248350		2199	4290	6489	SO:0001583	missense	112939			AF395817	CCDS12294.1	19p13.13	2013-01-09	2008-10-03	2008-10-03		ENSG00000160877		"BEN domain containing", "BTB/POZ domain containing"	20967	protein-coding gene	gene with protein product	"nucleus accumbens associated 1", "BEN domain containing 8"	610672	"BTB (POZ) domain containing 14B"	BTBD14B		12477932	Standard	NM_052876		Approved	NAC1, NAC-1, BEND8, BTBD30	uc002mwm.4	Q96RE7		ENST00000292431.4:c.1285C>T	19.37:g.13248350C>T	ENSP00000292431:p.Arg429Trp			Missense_Mutation	SNP	ENST00000292431.4	37	CCDS12294.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.097309	0.56075	.	.	ENSG00000160877	ENST00000292431	T	0.49139	0.79	4.33	4.33	0.51752	BEN domain (2);	0.061313	0.64402	D	0.000013	T	0.50240	0.1604	N	0.19112	0.55	0.47698	D	0.999499	D	0.89917	1.0	D	0.79784	0.993	T	0.54091	-0.8345	10	0.87932	D	0	.	9.6254	0.39748	0.2084:0.7916:0.0:0.0	.	429	Q96RE7	NACC1_HUMAN	W	429	ENSP00000292431:R429W	ENSP00000292431:R429W	R	+	1	2	NACC1	13109350	0.964000	0.33143	0.997000	0.53966	0.081000	0.17604	2.266000	0.43320	2.267000	0.75376	0.555000	0.69702	CGG		0.652	NACC1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452879.1	NM_052876		T	13248350	C	T	13248350	3	4	734	1	0	0	0	0	1	0	0	0	10137	875	31	1	1299	1	NACC1	19	13248350	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	61890	13248350	45880633	925	42344											
ZSWIM4	65249	mdanderson.org	37	19	13936443	13936443	+	Silent	SNP	G	G	A	rs202144110	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:13936443G>A	ENST00000254323.2	+	11	2133	c.1944G>A	c.(1942-1944)gcG>gcA	p.A648A	ZSWIM4_ENST00000440752.2_Silent_p.A482A	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	648							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)			TTAAGCTGGCGCAGGACGCCT	0.662													G|||	3	0.000599042	0.0	0.0043	5008	,	,		15695	0.0		0.0	False		,,,				2504	0.0															0								G		0,4406		0,0,2203	63	65	65		1944	-7.8	0.9	19		65	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZSWIM4	NM_023072.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		648/990	13936443	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	65249			AK022283	CCDS32924.1	19p13.13	2012-02-23			ENSG00000132003	ENSG00000132003		"Zinc fingers, SWIM-type"	25704	protein-coding gene	gene with protein product							Standard	NM_023072		Approved	FLJ12221	uc002mxh.1	Q9H7M6		ENST00000254323.2:c.1944G>A	19.37:g.13936443G>A				Silent	SNP	ENST00000254323.2	37	CCDS32924.1																																																																																				0.662	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457457.1	XM_031342		A	13936443	G	A	13936443	2	1	734	1	0	0	0	0	0	0	0	1	18248	1074	38	1		1	ZSWIM4	19	13936443	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	688093	13936443	45192540	926	42345											
LPHN1	22859	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	14268815	14268815	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:14268815C>T	ENST00000340736.6	-	14	2726	c.2429G>A	c.(2428-2430)cGt>cAt	p.R810H	CTB-55O6.12_ENST00000588658.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.R805H|CTB-55O6.12_ENST00000592086.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	810	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				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						CAGCATGGAACGCTCCGAGTA	0.567																																																0													202	161	175					19																	14268815		2203	4300	6503	SO:0001583	missense	22859			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.2429G>A	19.37:g.14268815C>T	ENSP00000340688:p.Arg810His		Q96IE7|Q9BU07|Q9HAR3	Missense_Mutation	SNP	ENST00000340736.6	37	CCDS32928.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.126719	0.37533	.	.	ENSG00000072071	ENST00000340736;ENST00000361434	T;T	0.70631	-0.5;-0.5	4.73	4.73	0.59995	GPS domain (3);	0.000000	0.85682	D	0.000000	T	0.70465	0.3227	L	0.41961	1.31	0.50632	D	0.999883	P;P	0.42203	0.74;0.773	P;P	0.47015	0.479;0.534	T	0.73757	-0.3882	10	0.56958	D	0.05	.	15.5416	0.76052	0.0:1.0:0.0:0.0	.	805;810	O94910-2;O94910	.;LPHN1_HUMAN	H	810;805	ENSP00000340688:R810H;ENSP00000355328:R805H	ENSP00000340688:R810H	R	-	2	0	LPHN1	14129815	1.000000	0.71417	0.918000	0.36340	0.417000	0.31264	4.920000	0.63390	2.339000	0.79563	0.561000	0.74099	CGT		0.567	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921		T	14268815	C	T	14268815	3	4	734	1	0	0	0	0	1	0	0	0	8917	536	19	1	2039	1	LPHN1	19	14268815	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	332372	14268815	44860168	927	42346											
LPHN1	22859	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	14273936	14273936	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:14273936C>T	ENST00000340736.6	-	6	989	c.692G>A	c.(691-693)cGc>cAc	p.R231H	LPHN1_ENST00000591528.1_5'UTR|LPHN1_ENST00000361434.3_Missense_Mutation_p.R226H|CTB-55O6.12_ENST00000592086.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	231	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				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						GACGATGTTGCGCGTGCGCTC	0.622																																																0													145	100	115					19																	14273936		2203	4300	6503	SO:0001583	missense	22859			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.692G>A	19.37:g.14273936C>T	ENSP00000340688:p.Arg231His		Q96IE7|Q9BU07|Q9HAR3	Missense_Mutation	SNP	ENST00000340736.6	37	CCDS32928.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.983472	0.93044	.	.	ENSG00000072071	ENST00000340736;ENST00000361434	D;D	0.90069	-2.61;-2.61	4.8	4.8	0.61643	Olfactomedin-like (3);	0.000000	0.85682	D	0.000000	D	0.93893	0.8046	M	0.74467	2.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.94657	0.7844	10	0.87932	D	0	.	15.3705	0.74560	0.0:1.0:0.0:0.0	.	226;231	O94910-2;O94910	.;LPHN1_HUMAN	H	231;226	ENSP00000340688:R231H;ENSP00000355328:R226H	ENSP00000340688:R231H	R	-	2	0	LPHN1	14134936	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.749000	0.85096	2.204000	0.70986	0.655000	0.94253	CGC		0.622	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921		T	14273936	C	T	14273936	3	4	734	1	0	0	0	0	1	0	0	0	8917	768	27	1	3808	1	LPHN1	19	14273936	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	5121	14273936	44855047	928	42347											
SLC1A6	6511	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	19	15063793	15063793	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:15063793C>T	ENST00000221742.3	-	8	1453	c.1446G>A	c.(1444-1446)tcG>tcA	p.S482S	SLC1A6_ENST00000430939.2_Silent_p.S418S|SLC1A6_ENST00000600144.1_Silent_p.S404S	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	482					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						GCAAGCCGACCGACGTAAGCA	0.612																																																0													189	149	162					19																	15063793		2203	4300	6503	SO:0001819	synonymous_variant	6511				CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"Solute carriers"	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.1446G>A	19.37:g.15063793C>T			Q8N753	Silent	SNP	ENST00000221742.3	37	CCDS12321.1																																																																																				0.612	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071		T	15063793	C	T	15063793	2	4	734	1	0	0	0	0	0	0	0	1	14442	639	23	1		1	SLC1A6	19	15063793	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	789857	15063793	44065190	929	42348											
NOTCH3	4854	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	15297722	15297722	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:15297722G>A	ENST00000263388.2	-	12	1993	c.1918C>T	c.(1918-1920)Cgc>Tgc	p.R640C		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	640	EGF-like 16; 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)			CAGTCGTAGCGGTTGATGCCA	0.582																																																0													106	82	90					19																	15297722		2203	4300	6503	SO:0001583	missense	4854			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"Ankyrin repeat domain containing"	7883	protein-coding gene	gene with protein product		600276	"Notch (Drosophila) homolog 3", "Notch homolog 3 (Drosophila)"	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.1918C>T	19.37:g.15297722G>A	ENSP00000263388:p.Arg640Cys		Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	G	19.27	3.794432	0.70452	.	.	ENSG00000074181	ENST00000263388;ENST00000539383	D	0.95137	-3.62	4.52	3.45	0.39498	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.96040	0.8710	M	0.72479	2.2	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.76071	0.956;0.987	D	0.95023	0.8162	9	0.56958	D	0.05	.	8.8859	0.35402	0.0:0.1636:0.6673:0.1691	.	643;640	Q59FL3;Q9UM47	.;NOTC3_HUMAN	C	640;642	ENSP00000263388:R640C	ENSP00000263388:R640C	R	-	1	0	NOTCH3	15158722	0.999000	0.42202	1.000000	0.80357	0.991000	0.79684	0.750000	0.26334	0.979000	0.38497	0.655000	0.94253	CGC		0.582	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		A	15297722	G	A	15297722	3	1	734	1	0	0	0	0	1	0	0	0	10552	1116	39	1	5135	1	NOTCH3	19	15297722	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	233929	15297722	43831261	930	42349											
CYP4F3	4051	broad.mit.edu	37	19	15752327	15752327	+	Silent	SNP	C	C	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:15752327C>A	ENST00000221307.8	+	2	149	c.102C>A	c.(100-102)atC>atA	p.I34I	CYP4F3_ENST00000585846.1_Silent_p.I34I|CYP4F3_ENST00000586182.2_Silent_p.I34I|CYP4F3_ENST00000591058.1_Silent_p.I34I	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	34					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						TGGCCCGCATCCTGGCCTGGA	0.637																																																0													60	63	62					19																	15752327		2203	4300	6503	SO:0001819	synonymous_variant	4051			AB002454	CCDS12332.1, CCDS59362.1	19p13.12	2013-02-21	2003-01-14		ENSG00000186529	ENSG00000186529		"Cytochrome P450s"	2646	protein-coding gene	gene with protein product		601270	"cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase)"	LTB4H		8486631, 9539102	Standard	NM_000896		Approved	CYP4F	uc010xol.2	Q08477	OTTHUMG00000182374	ENST00000221307.8:c.102C>A	19.37:g.15752327C>A			B7Z8Z3|O60634|Q5U740	Silent	SNP	ENST00000221307.8	37	CCDS12332.1																																																																																				0.637	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460819.3	NM_000896		A	15752327	C	A	15752327	2	1	734	1	0	0	0	0	0	0	0	1	4192	845	30	4		4	CYP4F3	19	15752327	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	454605	15752327	43376656	931	42350											
AP1M1	8907	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	16345014	16345014	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:16345014G>A	ENST00000291439.3	+	11	1627	c.1178G>A	c.(1177-1179)cGc>cAc	p.R393H	AP1M1_ENST00000429941.2_Missense_Mutation_p.R340H|AP1M1_ENST00000590756.1_Missense_Mutation_p.R321H|AP1M1_ENST00000444449.2_Missense_Mutation_p.R405H|AP1M1_ENST00000541844.1_Missense_Mutation_p.R321H	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	393	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|trans-Golgi network membrane (GO:0032588)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						CCCCAGGTGCGCTACCTGAAG	0.647																																																0													63	56	58					19																	16345014		2203	4300	6503	SO:0001583	missense	8907				CCDS12342.1, CCDS46008.1	19p13.12	2008-05-23							13667	protein-coding gene	gene with protein product		603535				9653655, 17988225	Standard	NM_032493		Approved	AP47, CLAPM2	uc002ndv.2	Q9BXS5		ENST00000291439.3:c.1178G>A	19.37:g.16345014G>A	ENSP00000291439:p.Arg393His		Q4TTY5	Missense_Mutation	SNP	ENST00000291439.3	37	CCDS12342.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.657095	0.88154	.	.	ENSG00000072958	ENST00000444449;ENST00000291439;ENST00000541844;ENST00000429941	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	3.58	3.58	0.41010	Clathrin adaptor, mu subunit, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.48589	0.1508	M	0.93978	3.48	0.80722	D	1	D;P;P	0.57899	0.981;0.864;0.864	P;P;P	0.54312	0.748;0.458;0.458	T	0.66771	-0.5839	10	0.72032	D	0.01	-29.6875	14.7335	0.69399	0.0:0.0:1.0:0.0	.	340;405;393	E7ENJ6;Q4TTY5;Q9BXS5	.;.;AP1M1_HUMAN	H	405;393;321;340	ENSP00000388996:R405H;ENSP00000291439:R393H;ENSP00000445682:R321H;ENSP00000411498:R340H	ENSP00000291439:R393H	R	+	2	0	AP1M1	16206014	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	9.354000	0.97083	2.017000	0.59298	0.561000	0.74099	CGC		0.647	AP1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460492.1	NM_032493		A	16345014	G	A	16345014	3	1	734	1	0	0	0	0	1	0	0	0	734	1087	38	1	1260	1	AP1M1	19	16345014	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	592687	16345014	42783969	932	42351											
SIN3B	23309	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	16976291	16976291	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:16976291G>A	ENST00000248054.5	+	11	1475	c.1454G>A	c.(1453-1455)cGg>cAg	p.R485Q	SIN3B_ENST00000595541.1_Missense_Mutation_p.R75Q|SIN3B_ENST00000379803.1_Missense_Mutation_p.R517Q					SIN3 transcription regulator family member B											endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						AAGCTATCTCGGATGGCGCCG	0.582																																																0													88	78	81					19																	16976291		2203	4300	6503	SO:0001583	missense	23309			AB014600	CCDS32946.1, CCDS74308.1	19p13.12	2013-08-21	2013-08-21						19354	protein-coding gene	gene with protein product		607777	"SIN3 homolog B, transcription regulator (yeast)", "SIN3 transcription regulator homolog B (yeast)"			9734811	Standard	XM_005259832		Approved	KIAA0700	uc002ney.2	O75182		ENST00000248054.5:c.1454G>A	19.37:g.16976291G>A	ENSP00000248054:p.Arg485Gln			Missense_Mutation	SNP	ENST00000248054.5	37		.	.	.	.	.	.	.	.	.	.	G	20.1	3.934950	0.73442	.	.	ENSG00000127511	ENST00000379803;ENST00000248054	T;T	0.47869	0.86;0.83	4.77	4.77	0.60923	Histone deacetylase interacting (2);	0.054954	0.85682	D	0.000000	T	0.58623	0.2135	L	0.55103	1.725	0.80722	D	1	P;P;D	0.59357	0.928;0.603;0.985	P;B;P	0.56751	0.54;0.265;0.805	T	0.55095	-0.8194	10	0.27082	T	0.32	-13.5955	17.85	0.88744	0.0:0.0:1.0:0.0	.	75;485;517	B7Z392;O75182-2;O75182	.;.;SIN3B_HUMAN	Q	517;485	ENSP00000369131:R517Q;ENSP00000248054:R485Q	ENSP00000248054:R485Q	R	+	2	0	SIN3B	16837291	1.000000	0.71417	0.728000	0.30774	0.473000	0.32948	7.776000	0.85560	2.205000	0.71048	0.456000	0.33151	CGG		0.582	SIN3B-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000462846.1	NM_015260		A	16976291	G	A	16976291	3	1	734	1	0	0	0	0	1	0	0	0	14332	1116	39	1	1596	1	SIN3B	19	16976291	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	631277	16976291	42152692	933	42352											
HAPLN4	404037	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	19369385	19369385	+	Missense_Mutation	SNP	C	C	T	rs372695408		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:19369385C>T	ENST00000291481.7	-	4	827	c.764G>A	c.(763-765)cGc>cAc	p.R255H	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	255	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323, ECO:0000305}.				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)	GGCGTTATGGCGATACCCGTA	0.701																																																0								C	HIS/ARG	0,4406		0,0,2203	75	61	66		764	4	0.7	19		66	1,8599	1.2+/-3.3	0,1,4299	no	missense	HAPLN4	NM_023002.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	255/403	19369385	1,13005	2203	4300	6503	SO:0001583	missense	404037			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.764G>A	19.37:g.19369385C>T	ENSP00000291481:p.Arg255His		A5PKW5|Q96PW2	Missense_Mutation	SNP	ENST00000291481.7	37	CCDS12398.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.435566	0.83885	0.0	1.16E-4	ENSG00000187664	ENST00000291481	T	0.14144	2.53	3.97	3.97	0.46021	C-type lectin fold (1);Link (3);C-type lectin-like (1);	0.071699	0.50627	D	0.000116	T	0.48995	0.1531	H	0.95539	3.685	0.46222	D	0.99893	D	0.89917	1.0	D	0.79784	0.993	T	0.66516	-0.5904	10	0.72032	D	0.01	-25.3078	14.7601	0.69600	0.0:1.0:0.0:0.0	.	255	Q86UW8	HPLN4_HUMAN	H	255	ENSP00000291481:R255H	ENSP00000291481:R255H	R	-	2	0	HAPLN4	19230385	0.996000	0.38824	0.692000	0.30179	0.636000	0.38137	3.440000	0.52886	2.055000	0.61198	0.313000	0.20887	CGC		0.701	HAPLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460117.2	NM_023002		T	19369385	C	T	19369385	3	4	734	1	0	0	0	0	1	0	0	0	6959	768	27	1	452	1	HAPLN4	19	19369385	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	2393094	19369385	39759598	934	42353											
ZNF737	100129842	broad.mit.edu;mdanderson.org;bcgsc.ca	37	19	20735292	20735292	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:20735292G>A	ENST00000427401.4	-	3	309	c.215C>T	c.(214-216)gCc>gTc	p.A72V	ZNF737_ENST00000596797.1_Missense_Mutation_p.A72V|CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001159293.1	NP_001152765.1	O75373	ZN737_HUMAN	zinc finger protein 737	72	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						TGAGGGGTTGGCTACCATCTC	0.413																																																0													163	135	143					19																	20735292		692	1591	2283	SO:0001583	missense	100129842			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.215C>T	19.37:g.20735292G>A	ENSP00000395733:p.Ala72Val		C9JHM3	Missense_Mutation	SNP	ENST00000427401.4	37	CCDS54238.1	.	.	.	.	.	.	.	.	.	.	g	5.004	0.186380	0.09495	.	.	ENSG00000237440	ENST00000427401	T	0.06933	3.24	0.118	0.118	0.14667	.	.	.	.	.	T	0.11024	0.0269	L	0.43701	1.375	0.09310	N	1	P	0.40376	0.715	P	0.47827	0.558	T	0.26395	-1.0104	8	0.49607	T	0.09	.	.	.	.	.	72	C9JHM3	.	V	72	ENSP00000395733:A72V	ENSP00000395733:A72V	A	-	2	0	ZNF737	20527132	0.879000	0.30193	0.005000	0.12908	0.005000	0.04900	1.348000	0.33987	0.191000	0.20236	0.194000	0.17425	GCC		0.413	ZNF737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447844.2	NM_145289		A	20735292	G	A	20735292	3	1	734	1	0	0	0	0	1	0	0	0	18131	1203	42	2	1403	2	ZNF737	19	20735292	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1365907	20735292	38393691	935	42354											
ANKRD27	84079	broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	33137475	33137475	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:33137475G>A	ENST00000306065.4	-	4	418	c.260C>T	c.(259-261)gCc>gTc	p.A87V	ANKRD27_ENST00000587352.1_Missense_Mutation_p.A87V	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	87					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					GAGAAGACAGGCAAAACCAGC	0.443																																																0													85	86	86					19																	33137475		2203	4300	6503	SO:0001583	missense	84079			AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"Ankyrin repeat domain containing"	25310	protein-coding gene	gene with protein product	"Vps9 domain and ankyrin-repeat-containing protein"					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.260C>T	19.37:g.33137475G>A	ENSP00000304292:p.Ala87Val		Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Missense_Mutation	SNP	ENST00000306065.4	37	CCDS32986.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.068697	0.76301	.	.	ENSG00000105186	ENST00000306065	T	0.62364	0.03	5.13	4.03	0.46877	.	0.390695	0.22004	N	0.065963	T	0.55721	0.1938	L	0.36672	1.1	0.27654	N	0.947297	P	0.44195	0.828	B	0.44163	0.443	T	0.56926	-0.7898	10	0.62326	D	0.03	-17.2719	13.01	0.58725	0.0:0.0:0.7561:0.2439	.	87	Q96NW4	ANR27_HUMAN	V	87	ENSP00000304292:A87V	ENSP00000304292:A87V	A	-	2	0	ANKRD27	37829315	0.776000	0.28616	1.000000	0.80357	0.998000	0.95712	1.745000	0.38278	2.409000	0.81822	0.545000	0.68477	GCC		0.443	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1	NM_032139		A	33137475	G	A	33137475	3	1	734	1	0	0	0	0	1	0	0	0	655	1203	42	2	2996	2	ANKRD27	19	33137475	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	12402183	33137475	25991508	936	42355											
WDR88	126248	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	19	33666433	33666433	+	Silent	SNP	G	G	A	rs145406953	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:33666433G>A	ENST00000355868.3	+	11	1450	c.1374G>A	c.(1372-1374)tcG>tcA	p.S458S	AC008738.2_ENST00000577275.1_RNA|WDR88_ENST00000361680.2_3'UTR|CTD-2540B15.10_ENST00000590117.1_RNA	NM_173479.3	NP_775750.3	Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	458	Poly-Ser.									breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					CATCATCATCGGAAAGGGAGA	0.522													G|||	6	0.00119808	0.003	0.0029	5008	,	,		18538	0.0		0.0	False		,,,				2504	0.0															0								G		12,4394	20.2+/-43.8	0,12,2191	108	102	104		1374	-6.3	0	19	dbSNP_134	104	0,8600		0,0,4300	no	coding-synonymous	WDR88	NM_173479.3		0,12,6491	AA,AG,GG		0.0,0.2724,0.0923		458/473	33666433	12,12994	2203	4300	6503	SO:0001819	synonymous_variant	126248			BC031227	CCDS12429.1	19q13.11	2013-01-09	2007-04-04	2007-04-04		ENSG00000166359		"WD repeat domain containing"	26999	protein-coding gene	gene with protein product			"PQQ repeat and WD repeat domain containing"	PQWD		12477932	Standard	NM_173479		Approved		uc002nui.3	Q6ZMY6		ENST00000355868.3:c.1374G>A	19.37:g.33666433G>A			Q8NEF8	Silent	SNP	ENST00000355868.3	37	CCDS12429.1																																																																																				0.522	WDR88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450840.1	NM_173479		A	33666433	G	A	33666433	2	1	734	1	0	0	0	0	0	0	0	1	17340	1103	39	1		1	WDR88	19	33666433	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	528958	33666433	25462550	937	42356											
WTIP	126374	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	34984440	34984440	+	Missense_Mutation	SNP	G	G	A	rs539423563		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:34984440G>A	ENST00000590071.2	+	5	1281	c.944G>A	c.(943-945)cGg>cAg	p.R315Q	WTIP_ENST00000270288.6_Missense_Mutation_p.R539Q	NM_001080436.1	NP_001073905.1	A6NIX2	WTIP_HUMAN	Wilms tumor 1 interacting protein	315	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cytoskeleton organization (GO:0007010)|gene silencing by miRNA (GO:0035195)|negative regulation of hippo signaling (GO:0035331)|positive regulation of gene silencing by miRNA (GO:2000637)|regulation of cell morphogenesis (GO:0022604)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasmic mRNA processing body (GO:0000932)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(1)	4	all_lung(56;5.94e-07)|Lung NSC(56;9.35e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			GGCTGCTTCCGGTGCTCCGTG	0.642													G|||	1	0.000199681	0.0	0.0	5008	,	,		17989	0.0		0.001	False		,,,				2504	0.0															0													59	68	65					19																	34984440		2186	4290	6476	SO:0001583	missense	126374			AK130059	CCDS59375.1	19q13.11	2012-03-16			ENSG00000142279	ENSG00000142279			20964	protein-coding gene	gene with protein product	"WT1-interacting protein"	614790				14736876	Standard	NM_001080436		Approved		uc002nvm.3	A6NIX2		ENST00000590071.2:c.944G>A	19.37:g.34984440G>A	ENSP00000466953:p.Arg315Gln			Missense_Mutation	SNP	ENST00000590071.2	37	CCDS59375.1	.	.	.	.	.	.	.	.	.	.	G	35	5.541018	0.96474	.	.	ENSG00000142279	ENST00000270288	D	0.88664	-2.41	5.59	5.59	0.84812	Zinc finger, LIM-type (4);	0.000000	0.85682	D	0.000000	D	0.91908	0.7438	L	0.37630	1.12	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91746	0.5408	10	0.48119	T	0.1	.	18.3542	0.90351	0.0:0.0:1.0:0.0	.	539	A6NIX2	WTIP_HUMAN	Q	539	ENSP00000270288:R539Q	ENSP00000270288:R539Q	R	+	2	0	WTIP	39676280	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	9.268000	0.95675	2.624000	0.88883	0.561000	0.74099	CGG		0.642	WTIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459381.3	XM_059037		A	34984440	G	A	34984440	3	1	734	1	0	0	0	0	1	0	0	0	17415	1116	39	1	962	1	WTIP	19	34984440	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1318007	34984440	24144543	938	42357											
FFAR2	2867	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	19	35941487	35941487	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:35941487C>T	ENST00000599180.2	+	2	951	c.871C>T	c.(871-873)Ctg>Ttg	p.L291L	FFAR2_ENST00000601590.1_Intron|FFAR2_ENST00000246549.2_Silent_p.L291L			O15552	FFAR2_HUMAN	free fatty acid receptor 2	291					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)			GCTGCAGGTGCTGCGGAATCA	0.582																																					GBM(40;139 809 9833 23358 48736)											0													92	90	91					19																	35941487		2203	4300	6503	SO:0001819	synonymous_variant	2867			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.871C>T	19.37:g.35941487C>T			B0M0J9|Q4VAZ3|Q4VAZ5|Q4VBL5	Silent	SNP	ENST00000599180.2	37	CCDS12461.1																																																																																				0.582	FFAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466120.3	NM_005306		T	35941487	C	T	35941487	2	4	734	1	0	0	0	0	0	0	0	1	5830	796	28	2		2	FFAR2	19	35941487	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	957047	35941487	23187496	939	42358											
RBM42	79171	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	19	36120479	36120479	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:36120479G>A	ENST00000262633.4	+	2	291	c.186G>A	c.(184-186)gcG>gcA	p.A62A	RBM42_ENST00000592202.1_Silent_p.A62A|RBM42_ENST00000360475.4_Silent_p.A62A|RBM42_ENST00000589559.1_Silent_p.A62A|RBM42_ENST00000588161.1_Silent_p.A62A|RBM42_ENST00000586618.1_Silent_p.A62A|RBM42_ENST00000589871.1_Silent_p.A62A	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	62						cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CTGTGCCTGCGGTGCCCACTG	0.592																																																0													88	83	84					19																	36120479		2203	4300	6503	SO:0001819	synonymous_variant	79171			BC004204	CCDS12468.1	19q13.12	2013-02-12				ENSG00000126254		"RNA binding motif (RRM) containing"	28117	protein-coding gene	gene with protein product		613232				12477932	Standard	NM_024321		Approved	MGC10433	uc002oan.3	Q9BTD8		ENST00000262633.4:c.186G>A	19.37:g.36120479G>A			O00320|Q8N5R7|Q9BU66	Silent	SNP	ENST00000262633.4	37	CCDS12468.1																																																																																				0.592	RBM42-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459057.2	NM_024321		A	36120479	G	A	36120479	2	1	734	1	0	0	0	0	0	0	0	1	13142	1103	39	1		1	RBM42	19	36120479	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	178992	36120479	23008504	940	42359											
MLL4	9757	broad.mit.edu	37	19	36210431	36210431	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:36210431C>T	ENST00000222270.7	+	2	424	c.424C>T	c.(424-426)Cga>Tga	p.R142*	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Nonsense_Mutation_p.R142*|KMT2B_ENST00000341701.1_Nonsense_Mutation_p.R142*	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	142					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)										CTCTGCGCTCCGATCCCAGCG	0.562																																																0													52	53	52					19																	36210431		1939	4139	6078	SO:0001587	stop_gained	8085			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.424C>T	19.37:g.36210431C>T	ENSP00000222270:p.Arg142*		O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Nonsense_Mutation	SNP	ENST00000222270.7	37	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.350651	0.82132	.	.	ENSG00000105663	ENST00000222270;ENST00000420124;ENST00000341701	.	.	.	5.35	5.35	0.76521	.	0.000000	0.34828	N	0.003645	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.6267	0.51149	0.1776:0.8223:0.0:0.0	.	.	.	.	X	142	.	ENSP00000222270:R142X	R	+	1	2	AD000671.1	40902271	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.185000	0.58330	2.516000	0.84829	0.561000	0.74099	CGA		0.562	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		T	36210431	C	T	36210431	4	4	734	1	0	0	0	0	0	1	0	0	9625	644	23	1	430	1	MLL4	19	36210431	Nonsense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	89952	36210431	22918552	941	42360											
MLL4	9757	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	19	36210898	36210898	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:36210898C>T	ENST00000222270.7	+	3	649	c.649C>T	c.(649-651)Cgg>Tgg	p.R217W	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.R217W|KMT2B_ENST00000341701.1_Missense_Mutation_p.R217W	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	217					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)										CTCCACCCCCCGGCGGTCTCG	0.682																																																0													19	27	24					19																	36210898		1968	4135	6103	SO:0001583	missense	8085			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.649C>T	19.37:g.36210898C>T	ENSP00000222270:p.Arg217Trp		O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.974481	0.74246	.	.	ENSG00000105663	ENST00000222270;ENST00000420124;ENST00000341701	D;D;T	0.85773	-2.03;-2.03;0.51	5.59	5.59	0.84812	AT hook, DNA-binding motif (1);	0.000000	0.41823	D	0.000801	D	0.85457	0.5701	N	0.14661	0.345	0.37476	D	0.9158	D	0.89917	1.0	D	0.69654	0.965	D	0.89018	0.3433	10	0.87932	D	0	.	15.0853	0.72148	0.0:1.0:0.0:0.0	.	217	Q9UMN6	MLL4_HUMAN	W	217	ENSP00000222270:R217W;ENSP00000398837:R217W;ENSP00000345761:R217W	ENSP00000222270:R217W	R	+	1	2	AD000671.1	40902738	0.993000	0.37304	0.999000	0.59377	0.937000	0.57800	3.836000	0.55813	2.632000	0.89209	0.561000	0.74099	CGG		0.682	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		T	36210898	C	T	36210898	3	4	734	1	0	0	0	0	1	0	0	0	9625	643	23	1	659	1	MLL4	19	36210898	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	467	36210898	22918085	942	42361											
C19orf55	148137	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	19	36255795	36255795	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:36255795C>T	ENST00000544099.1	+	6	647	c.584C>T	c.(583-585)aCg>aTg	p.T195M	C19orf55_ENST00000396908.4_Missense_Mutation_p.T195M			Q2NL68	PRSR3_HUMAN		195										cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	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)			GACCTGGAGACGCTGAGCCTA	0.642																																																0													40	50	47					19																	36255795		2110	4233	6343	SO:0001583	missense	148137																														ENST00000544099.1:c.584C>T	19.37:g.36255795C>T	ENSP00000467267:p.Thr195Met		Q8NDI3|Q8WWC8|Q96NL4	Missense_Mutation	SNP	ENST00000544099.1	37		.	.	.	.	.	.	.	.	.	.	C	13.30	2.195170	0.38806	.	.	ENSG00000167595	ENST00000396908;ENST00000301165	T;T	0.48836	0.8;0.8	4.42	3.39	0.38822	.	0.000000	0.39407	N	0.001370	T	0.56630	0.1998	M	0.68952	2.095	0.30480	N	0.772409	D	0.65815	0.995	P	0.57009	0.811	T	0.60571	-0.7237	10	0.72032	D	0.01	-14.8863	8.2684	0.31829	0.0:0.8908:0.0:0.1092	.	195	E5RFB9	.	M	195;194	ENSP00000380116:T195M;ENSP00000301165:T194M	ENSP00000301165:T194M	T	+	2	0	C19orf55	40947635	0.579000	0.26725	0.872000	0.34217	0.828000	0.46876	0.707000	0.25704	1.217000	0.43442	0.558000	0.71614	ACG		0.642	C19orf55-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000398160.2			T	36255795	C	T	36255795	3	4	734	1	0	0	0	0	1	0	0	0	1939	536	19	1	606	1	C19orf55	19	36255795	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	44897	36255795	22873188	943	42362											
ARHGAP33	115703	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	36279135	36279135	+	Missense_Mutation	SNP	C	C	T	rs200225433		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:36279135C>T	ENST00000007510.4	+	21	3812	c.3668C>T	c.(3667-3669)cCg>cTg	p.P1223L	AC002398.5_ENST00000433059.1_lincRNA|ARHGAP33_ENST00000378944.5_Missense_Mutation_p.P1059L|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.P1062L			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	1223					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						CATAGGGTGCCGGGTCCCTGG	0.692																																																0													10	14	13					19																	36279135		2088	4091	6179	SO:0001583	missense	115703			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.3668C>T	19.37:g.36279135C>T	ENSP00000007510:p.Pro1223Leu		O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Missense_Mutation	SNP	ENST00000007510.4	37		.	.	.	.	.	.	.	.	.	.	c	9.803	1.181068	0.21787	.	.	ENSG00000004777	ENST00000007510;ENST00000314737;ENST00000378944	T;T;T	0.10099	3.34;2.91;3.19	3.99	2.82	0.32997	.	0.000000	0.35870	N	0.002934	T	0.05914	0.0154	N	0.14661	0.345	0.09310	N	0.999998	B;B	0.12630	0.006;0.006	B;B	0.04013	0.001;0.001	T	0.25257	-1.0137	10	0.87932	D	0	.	6.6413	0.22911	0.0:0.7092:0.1855:0.1053	.	1059;1062	O14559-10;O14559-11	.;.	L	1223;1062;1059	ENSP00000007510:P1223L;ENSP00000320038:P1062L;ENSP00000368227:P1059L	ENSP00000007510:P1223L	P	+	2	0	ARHGAP33	40970975	0.003000	0.15002	0.775000	0.31657	0.131000	0.20780	1.223000	0.32527	2.174000	0.68829	0.401000	0.26515	CCG		0.692	ARHGAP33-201	KNOWN	basic	protein_coding	protein_coding		NM_052948		T	36279135	C	T	36279135	3	4	734	1	0	0	0	0	1	0	0	0	882	652	23	1	3750	1	ARHGAP33	19	36279135	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	23340	36279135	22849848	944	42363											
KIRREL2	84063	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	36349605	36349605	+	Splice_Site	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:36349605G>A	ENST00000360202.5	+	4	559		c.e4-1		KIRREL2_ENST00000592409.1_Splice_Site|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000262625.7_Splice_Site|KIRREL2_ENST00000347900.6_Splice_Site	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)						cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	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)			CCACCTTGCAGTCCCCCCAGA	0.627																																																0													50	58	55					19																	36349605		2203	4300	6503	SO:0001630	splice_region_variant	84063			AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.362-1G>A	19.37:g.36349605G>A			C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Splice_Site	SNP	ENST00000360202.5	37	CCDS12481.1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.607817	0.28623	.	.	ENSG00000126259	ENST00000262625;ENST00000347900;ENST00000360202;ENST00000341658	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.466	0.75400	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIRREL2	41041445	1.000000	0.71417	0.995000	0.50966	0.020000	0.10135	7.608000	0.82898	2.793000	0.96121	0.563000	0.77884	.		0.627	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	NM_032123	Intron	A	36349605	G	A	36349605	5	1	734	1	0	0	0	0	0	0	1	0	8327	1043	36	2	375	2	KIRREL2	19	36349605	Splice_Site	SNP	G	TCGA-KN-8428-01A-11D-2310-10	70470	36349605	22779378	945	42364											
WDR62	284403	broad.mit.edu	37	19	36592604	36592604	+	Missense_Mutation	SNP	G	G	A	rs370416793		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:36592604G>A	ENST00000270301.7	+	25	3010	c.3010G>A	c.(3010-3012)Gca>Aca	p.A1004T	WDR62_ENST00000401500.2_Missense_Mutation_p.A1004T			O43379	WDR62_HUMAN	WD repeat domain 62	1004					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GTGCAGCTTCGCAGCCATCCA	0.667																																																0													21	17	18					19																	36592604		2051	3901	5952	SO:0001583	missense	284403			BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"WD repeat domain containing"	24502	protein-coding gene	gene with protein product		613583	"chromosome 19 open reading frame 14", "microcephaly, primary autosomal recessive 2"	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.3010G>A	19.37:g.36592604G>A	ENSP00000270301:p.Ala1004Thr		Q63HP9|Q659D7|Q8NBF7|Q96AD9	Missense_Mutation	SNP	ENST00000270301.7	37	CCDS33001.1	.	.	.	.	.	.	.	.	.	.	G	8.541	0.873333	0.17322	.	.	ENSG00000075702	ENST00000401500;ENST00000270301	T;T	0.45668	0.98;0.89	4.28	-6.24	0.02046	.	1.437660	0.03815	N	0.266608	T	0.17662	0.0424	N	0.04355	-0.22	0.21473	N	0.999679	B;B	0.13145	0.007;0.004	B;B	0.08055	0.003;0.001	T	0.14476	-1.0471	10	0.19590	T	0.45	-7.7739	6.9063	0.24311	0.5919:0.0:0.2839:0.1241	.	1004;1004	O43379-4;O43379	.;WDR62_HUMAN	T	1004	ENSP00000384792:A1004T;ENSP00000270301:A1004T	ENSP00000270301:A1004T	A	+	1	0	WDR62	41284444	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.504000	0.02275	-1.191000	0.02695	-0.825000	0.03093	GCA		0.667	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	NM_015671		A	36592604	G	A	36592604	3	1	734	1	0	0	0	0	1	0	0	0	17318	1087	38	1	3108	1	WDR62	19	36592604	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	242999	36592604	22536379	946	42365											
ZNF569	148266	broad.mit.edu;ucsc.edu;mdanderson.org	37	19	37916858	37916858	+	Silent	SNP	C	C	T	rs534219621		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:37916858C>T	ENST00000316950.6	-	5	707	c.150G>A	c.(148-150)ccG>ccA	p.P50P	ZNF569_ENST00000592490.1_Intron|ZNF569_ENST00000591073.1_5'Flank|ZNF569_ENST00000392150.2_Intron|ZNF569_ENST00000589833.1_Silent_p.P74P|ZNF569_ENST00000392149.2_Silent_p.P50P	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	50	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(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)			GTTTGGTGAACGGATAGCCTG	0.443													C|||	1	0.000199681	0.0	0.0	5008	,	,		17935	0.0		0.0	False		,,,				2504	0.001															0													295	283	287					19																	37916858		2203	4300	6503	SO:0001819	synonymous_variant	148266			AL833408	CCDS12503.1	19q13.12	2013-09-20			ENSG00000196437	ENSG00000196437		"Zinc fingers, C2H2-type", "-"	24737	protein-coding gene	gene with protein product		613904				12477932	Standard	NM_152484		Approved	FLJ32053, ZAP1	uc002ogi.3	Q5MCW4	OTTHUMG00000048172	ENST00000316950.6:c.150G>A	19.37:g.37916858C>T			A8K1S2|Q15925|Q17RR6|Q96MQ2	Silent	SNP	ENST00000316950.6	37	CCDS12503.1																																																																																				0.443	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109594.2	NM_152484		T	37916858	C	T	37916858	2	4	734	1	0	0	0	0	0	0	0	1	18005	523	19	1		1	ZNF569	19	37916858	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1324254	37916858	21212125	947	42366											
RASGRP4	115727	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	38901988	38901988	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:38901988G>A	ENST00000587738.1	-	14	1784	c.1714C>T	c.(1714-1716)Cgg>Tgg	p.R572W	RASGRP4_ENST00000454404.2_Missense_Mutation_p.R538W|RASGRP4_ENST00000426920.2_Missense_Mutation_p.R383W|RASGRP4_ENST00000293062.9_Missense_Mutation_p.R475W|RASGRP4_ENST00000586305.1_Missense_Mutation_p.R558W|RASGRP4_ENST00000433821.2_Missense_Mutation_p.R480W|RASGRP4_ENST00000587753.1_Missense_Mutation_p.R503W			Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	572					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)			CACTCACCCCGACAGCGGTAG	0.617																																																0													26	27	27					19																	38901988		1972	4154	6126	SO:0001583	missense	115727			AY048119	CCDS46068.1, CCDS54262.1, CCDS54263.1, CCDS54264.1	19q13.1	2013-01-10						"EF-hand domain containing"	18958	protein-coding gene	gene with protein product		607320				11956218	Standard	NM_170604		Approved		uc021uub.1	Q8TDF6		ENST00000587738.1:c.1714C>T	19.37:g.38901988G>A	ENSP00000465772:p.Arg572Trp		A6H8M4|C0LTP2|C0LTP3|C0LTP4|C0LTP5|C0LTP7|C9J416|C9JHZ1|Q8N858|Q96QN5|Q96QN6|Q96QN7	Missense_Mutation	SNP	ENST00000587738.1	37	CCDS46068.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.423059	0.83559	.	.	ENSG00000171777	ENST00000433821;ENST00000293062;ENST00000426920;ENST00000405332;ENST00000454404	D;D;D	0.93133	-3.17;-3.17;-3.17	5.7	5.7	0.88788	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);Diacylglycerol/phorbol-ester binding (1);	0.200789	0.42964	D	0.000636	D	0.96836	0.8967	M	0.89095	3.005	0.39659	D	0.970589	D;D;D;D;D;D;D	0.89917	0.998;1.0;0.995;0.995;0.995;0.984;0.998	P;D;P;P;P;P;P	0.79784	0.817;0.993;0.745;0.745;0.745;0.828;0.885	D	0.97572	1.0105	10	0.87932	D	0	.	12.2986	0.54862	0.0:0.0:0.8308:0.1692	.	383;475;480;538;503;558;572	C0LTP5;C0LTP7;C0LTP2;C0LTP4;C0LTP3;Q8TDF6-2;Q8TDF6	.;.;.;.;.;.;GRP4_HUMAN	W	480;475;383;572;572	ENSP00000411878:R480W;ENSP00000293062:R475W;ENSP00000445966:R383W	ENSP00000293062:R475W	R	-	1	2	RASGRP4	43593828	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.229000	0.51278	2.687000	0.91594	0.655000	0.94253	CGG		0.617	RASGRP4-013	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460540.1	NM_170604		A	38901988	G	A	38901988	3	1	734	1	0	0	0	0	1	0	0	0	13083	1057	37	1	323	1	RASGRP4	19	38901988	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	985130	38901988	20226995	948	42367											
MAP4K1	11184	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	39090577	39090577	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:39090577T>C	ENST00000591517.1	-	22	1685	c.1657A>G	c.(1657-1659)Atg>Gtg	p.M553V	MAP4K1_ENST00000423454.2_Intron|MAP4K1_ENST00000396857.2_Missense_Mutation_p.M553V|CTB-186G2.1_ENST00000589557.1_RNA|MAP4K1_ENST00000589130.1_Missense_Mutation_p.M549V|MAP4K1_ENST00000586296.1_Intron	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	553	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)	membrane (GO:0016020)	ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GAGAGAGACATGAGAACGTTG	0.587																																																0													138	143	142					19																	39090577		2053	4212	6265	SO:0001583	missense	11184			U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6863	protein-coding gene	gene with protein product	"hematopoietic progenitor kinase 1"	601983				8824585	Standard	NM_001042600		Approved	HPK1	uc002oix.1	Q92918		ENST00000591517.1:c.1657A>G	19.37:g.39090577T>C	ENSP00000465039:p.Met553Val			Missense_Mutation	SNP	ENST00000591517.1	37	CCDS59385.1	.	.	.	.	.	.	.	.	.	.	.	14.30	2.494029	0.44352	.	.	ENSG00000104814	ENST00000396857;ENST00000221409	T	0.04015	3.73	4.87	3.86	0.44501	Citron-like (3);	0.046500	0.85682	N	0.000000	T	0.06781	0.0173	L	0.58810	1.83	0.80722	D	1	B;B	0.21821	0.049;0.061	B;B	0.23574	0.028;0.047	T	0.11591	-1.0581	10	0.87932	D	0	.	8.1226	0.30980	0.0:0.093:0.0:0.907	.	553;553	Q92918-2;Q92918	.;M4K1_HUMAN	V	553	ENSP00000380066:M553V	ENSP00000221409:M553V	M	-	1	0	MAP4K1	43782417	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.078000	0.57606	0.907000	0.36646	0.454000	0.30748	ATG		0.587	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453390.1	NM_001042600		C	39090577	T	C	39090577	3	2	734	1	0	0	0	0	1	0	0	0	9261	1464	51	3	950	3	MAP4K1	19	39090577	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	188589	39090577	20038406	949	42368											
ZFP36	7538	bcgsc.ca	37	19	39899072	39899072	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:39899072delC	ENST00000248673.3	+	2	772	c.714delC	c.(712-714)accfs	p.T238fs	MIR4530_ENST00000581459.1_RNA|ZFP36_ENST00000597629.1_Frame_Shift_Del_p.T244fs	NM_003407.3	NP_003398.2	P26651	TTP_HUMAN	ZFP36 ring finger protein	238					3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of inflammatory response (GO:0050728)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of tumor necrosis factor production (GO:0032680)|response to starvation (GO:0042594)|RNA destabilization (GO:0050779)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|AU-rich element binding (GO:0017091)|C-C chemokine binding (GO:0019957)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|single-stranded RNA binding (GO:0003727)			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CCCCTGGCACCCCCCTGGCTC	0.682																																					NSCLC(67;1164 1324 12056 21056 30097)											0													35	40	39					19																	39899072		2202	4300	6502	SO:0001589	frameshift_variant	7538			M63625	CCDS12534.1, CCDS12534.2	19q13.1	2012-11-27	2012-11-27			ENSG00000128016		"RING-type (C3HC4) zinc fingers"	12862	protein-coding gene	gene with protein product		190700	"zinc finger protein 36, C3H type, homolog (mouse)"			1699942	Standard	NM_003407		Approved	RNF162A, TIS11, G0S24, TTP, NUP475, tristetraprolin	uc002olh.2	P26651		ENST00000248673.3:c.714delC	19.37:g.39899072delC	ENSP00000248673:p.Thr238fs		B2RA54	Frame_Shift_Del	DEL	ENST00000248673.3	37																																																																																					0.682	ZFP36-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				-	39899072	C	-	39899072	7	5	734	1	0	1	0	1	0	0	0	0	17650	610	22	0	720	0	ZFP36	19	39899072	Frame_Shift_Del	DEL	C	TCGA-KN-8428-01A-11D-2310-10	808495	39899072	19229911	950	42369											
FCGBP	8857	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	19	40366434	40366434	+	Silent	SNP	G	G	A	rs373753795		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:40366434G>A	ENST00000221347.6	-	30	13807	c.13800C>T	c.(13798-13800)cgC>cgT	p.R4600R		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4600	VWFD 11. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)		p.R4600R(1)		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)			CCGCCGGCACGCGCAGGCGCA	0.672																																																1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)											45	51	49					19																	40366434		2202	4297	6499	SO:0001819	synonymous_variant	8857			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.13800C>T	19.37:g.40366434G>A			O95784	Silent	SNP	ENST00000221347.6	37	CCDS12546.1																																																																																				0.672	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		A	40366434	G	A	40366434	2	1	734	1	0	0	0	0	0	0	0	1	5780	1074	38	1		1	FCGBP	19	40366434	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	467362	40366434	18762549	951	42370											
FCGBP	8857	broad.mit.edu;mdanderson.org	37	19	40368741	40368741	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:40368741C>T	ENST00000221347.6	-	28	12614	c.12607G>A	c.(12607-12609)Gtg>Atg	p.V4203M		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4203	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)			GGGAGCGTCACGTCTACCCGC	0.607																																																0													244	249	247					19																	40368741		2203	4300	6503	SO:0001583	missense	8857			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.12607G>A	19.37:g.40368741C>T	ENSP00000221347:p.Val4203Met		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	11.79	1.742965	0.30865	.	.	ENSG00000090920	ENST00000221347	T	0.63255	-0.03	3.92	2.89	0.33648	von Willebrand factor, type D domain (3);	.	.	.	.	T	0.78629	0.4313	M	0.88842	2.985	0.20563	N	0.99989	D	0.89917	1.0	D	0.68943	0.961	T	0.65442	-0.6167	9	0.72032	D	0.01	.	7.7633	0.28965	0.0:0.8163:0.0:0.1837	.	4203	Q9Y6R7	FCGBP_HUMAN	M	4203	ENSP00000221347:V4203M	ENSP00000221347:V4203M	V	-	1	0	FCGBP	45060581	0.000000	0.05858	0.865000	0.33974	0.018000	0.09664	-0.540000	0.06106	2.201000	0.70794	0.305000	0.20034	GTG		0.607	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		T	40368741	C	T	40368741	3	4	734	1	0	0	0	0	1	0	0	0	5780	536	19	1	3646	1	FCGBP	19	40368741	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	2307	40368741	18760242	952	42371											
CNTD2	79935	broad.mit.edu;ucsc.edu;mdanderson.org	37	19	40730407	40730407	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:40730407G>A	ENST00000430325.2	-	3	549	c.501C>T	c.(499-501)tgC>tgT	p.C167C	CNTD2_ENST00000433940.1_Silent_p.C137C|CNTD2_ENST00000513948.1_Silent_p.C61C	NM_024877.3	NP_079153.2	Q9H8S5	CNTD2_HUMAN	cyclin N-terminal domain containing 2	167	Cyclin N-terminal.				regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)					lung(1)|prostate(1)	2						CGGGAAGCACGCACTCTTCCA	0.592																																																0													178	196	190					19																	40730407		2203	4300	6503	SO:0001819	synonymous_variant	79935			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.501C>T	19.37:g.40730407G>A			B4DX65	Silent	SNP	ENST00000430325.2	37	CCDS12551.2																																																																																				0.592	CNTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360785.1	NM_024877		A	40730407	G	A	40730407	2	1	734	1	0	0	0	0	0	0	0	1	3638	1079	38	1		1	CNTD2	19	40730407	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	361666	40730407	18398576	953	42372											
SPTBN4	57731	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	19	41072217	41072217	+	Silent	SNP	G	G	A	rs577033896		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:41072217G>A	ENST00000352632.3	+	30	6374	c.6288G>A	c.(6286-6288)gcG>gcA	p.A2096A	SPTBN4_ENST00000392025.1_Silent_p.A839A|SPTBN4_ENST00000598249.1_Silent_p.A2096A|SPTBN4_ENST00000338932.3_Silent_p.A2096A			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	2096					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)			TCCGCAAAGCGGCTGCAGCCT	0.667													g|||	1	0.000199681	0.0	0.0	5008	,	,		14384	0.001		0.0	False		,,,				2504	0.0															0													17	19	18					19																	41072217		2200	4300	6500	SO:0001819	synonymous_variant	57731			AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"Pleckstrin homology (PH) domain containing"	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.6288G>A	19.37:g.41072217G>A			E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Silent	SNP	ENST00000352632.3	37	CCDS12559.1																																																																																				0.667	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			A	41072217	G	A	41072217	2	1	734	1	0	0	0	0	0	0	0	1	15126	1103	39	1		1	SPTBN4	19	41072217	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	341810	41072217	18056766	954	42373											
ADCK4	79934	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	19	41198899	41198899	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:41198899T>C	ENST00000324464.3	-	14	1554	c.1253A>G	c.(1252-1254)cAg>cGg	p.Q418R	NUMBL_ENST00000540131.1_5'Flank|ADCK4_ENST00000243583.6_Missense_Mutation_p.Q377R|NUMBL_ENST00000252891.4_5'Flank|NUMBL_ENST00000599594.1_5'Flank|NUMBL_ENST00000598779.1_5'Flank|ADCK4_ENST00000450541.1_Missense_Mutation_p.Q377R	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	418	Protein kinase.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			CCTGGACTTCTGCAGGACACA	0.607																																																0													98	90	93					19																	41198899		2203	4300	6503	SO:0001583	missense	79934			AK022291	CCDS12562.1, CCDS46081.1	19q13.2	2008-02-05				ENSG00000123815			19041	protein-coding gene	gene with protein product		615567					Standard	NM_024876		Approved	FLJ12229, COQ8	uc002oor.2	Q96D53		ENST00000324464.3:c.1253A>G	19.37:g.41198899T>C	ENSP00000315118:p.Gln418Arg		Q8TAJ1|Q9HA52	Missense_Mutation	SNP	ENST00000324464.3	37	CCDS12562.1	.	.	.	.	.	.	.	.	.	.	T	10.22	1.291259	0.23564	.	.	ENSG00000123815	ENST00000324464;ENST00000450541;ENST00000243583	T;T;T	0.54071	0.59;0.59;0.59	5.37	4.35	0.52113	Protein kinase-like domain (1);	0.444670	0.24973	N	0.034129	T	0.33614	0.0869	N	0.17594	0.5	0.37920	D	0.931658	B;B	0.06786	0.001;0.001	B;B	0.08055	0.001;0.003	T	0.15838	-1.0423	10	0.39692	T	0.17	-11.5279	7.7486	0.28883	0.0:0.1652:0.0:0.8348	.	418;377	Q96D53;Q96D53-2	ADCK4_HUMAN;.	R	418;377;377	ENSP00000315118:Q418R;ENSP00000412839:Q377R;ENSP00000243583:Q377R	ENSP00000243583:Q377R	Q	-	2	0	ADCK4	45890739	0.994000	0.37717	0.998000	0.56505	0.579000	0.36224	2.254000	0.43214	0.884000	0.36064	0.533000	0.62120	CAG		0.607	ADCK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462731.1	NM_024876		C	41198899	T	C	41198899	3	2	734	1	0	0	0	0	1	0	0	0	290	1580	55	3	389	3	ADCK4	19	41198899	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	126682	41198899	17930084	955	42374											
POU2F2	5452	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	42600329	42600329	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:42600329G>A	ENST00000526816.2	-	8	583	c.568C>T	c.(568-570)Cca>Tca	p.P190S	POU2F2_ENST00000560558.1_Missense_Mutation_p.P135S|POU2F2_ENST00000529067.1_Missense_Mutation_p.P174S|POU2F2_ENST00000389341.5_Missense_Mutation_p.P174S|POU2F2_ENST00000560398.1_Missense_Mutation_p.P196S|POU2F2_ENST00000533720.1_Missense_Mutation_p.P174S|POU2F2_ENST00000529952.1_Missense_Mutation_p.P190S|POU2F2_ENST00000342301.4_Missense_Mutation_p.P190S			P09086	PO2F2_HUMAN	POU class 2 homeobox 2	190					cell maturation (GO:0048469)|humoral immune response (GO:0006959)|immunoglobulin secretion involved in immune response (GO:0002380)|mature B cell differentiation (GO:0002335)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)			Dolutegravir(DB08930)	TGGGATGGTGGCTCCAAGCAT	0.682																																																0													35	35	35					19																	42600329		2203	4300	6503	SO:0001583	missense	5452				CCDS33035.1, CCDS56094.1, CCDS56095.1, CCDS58665.1	19q13.2	2011-06-20	2007-07-13					"Homeoboxes / POU class"	9213	protein-coding gene	gene with protein product		164176	"POU domain class 2, transcription factor 2"	OTF2			Standard	NM_001207026		Approved	OCT2	uc002osp.3	P09086		ENST00000526816.2:c.568C>T	19.37:g.42600329G>A	ENSP00000431603:p.Pro190Ser		Q16648|Q7M4M8|Q9BRS4	Missense_Mutation	SNP	ENST00000526816.2	37	CCDS56095.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.676257	0.47886	.	.	ENSG00000028277	ENST00000389341;ENST00000342301;ENST00000292077;ENST00000533720;ENST00000526816;ENST00000529067;ENST00000529952	D;D;D;T;D	0.83335	-1.64;-1.65;-1.71;-1.43;-1.57	4.33	4.33	0.51752	.	0.634983	0.12915	N	0.428654	T	0.78553	0.4301	N	0.22421	0.69	0.40871	D	0.983912	B;D;B	0.57257	0.356;0.979;0.409	B;P;B	0.51777	0.185;0.679;0.249	T	0.71862	-0.4464	10	0.11794	T	0.64	.	14.2132	0.65778	0.0:0.0:1.0:0.0	.	174;190;174	P09086-4;P09086;P09086-3	.;PO2F2_HUMAN;.	S	174;190;190;174;189;174;190	ENSP00000373992:P174S;ENSP00000339369:P190S;ENSP00000437221:P174S;ENSP00000437224:P174S;ENSP00000436988:P190S	ENSP00000292077:P190S	P	-	1	0	POU2F2	47292169	0.963000	0.33076	1.000000	0.80357	0.997000	0.91878	1.558000	0.36309	2.393000	0.81446	0.650000	0.86243	CCA		0.682	POU2F2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387329.3			A	42600329	G	A	42600329	3	1	734	1	0	0	0	0	1	0	0	0	12274	1203	42	2	899	2	POU2F2	19	42600329	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1401430	42600329	16528654	956	42375											
ZNF526	116115	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	42729973	42729973	+	Missense_Mutation	SNP	G	G	A	rs149858475		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:42729973G>A	ENST00000301215.3	+	3	1643	c.1418G>A	c.(1417-1419)cGc>cAc	p.R473H		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	473					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				CGGCGTCACCGCTGTGGGGTT	0.657																																																0								G	HIS/ARG	0,4406		0,0,2203	67	70	69		1418	0.3	0	19	dbSNP_134	69	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF526	NM_133444.1	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	473/671	42729973	1,13005	2203	4300	6503	SO:0001583	missense	116115			AB075831	CCDS12598.1	19q13.31	2013-01-08				ENSG00000167625		"Zinc fingers, C2H2-type"	29415	protein-coding gene	gene with protein product		614387				11853319	Standard	NM_133444		Approved	KIAA1951, MGC4267	uc002osz.1	Q8TF50		ENST00000301215.3:c.1418G>A	19.37:g.42729973G>A	ENSP00000301215:p.Arg473His		B3KV29|Q69YI2|Q96E24	Missense_Mutation	SNP	ENST00000301215.3	37	CCDS12598.1	.	.	.	.	.	.	.	.	.	.	G	12.97	2.096005	0.36952	0.0	1.16E-4	ENSG00000167625	ENST00000437878;ENST00000301215	T	0.14893	2.47	4.97	0.305	0.15801	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.513891	0.17231	N	0.181951	T	0.11153	0.0272	L	0.28649	0.875	0.09310	N	1	P	0.48350	0.909	B	0.40565	0.333	T	0.17018	-1.0383	10	0.54805	T	0.06	-18.3772	8.4082	0.32627	0.4764:0.0:0.5236:0.0	.	473	Q8TF50	ZN526_HUMAN	H	329;473	ENSP00000301215:R473H	ENSP00000301215:R473H	R	+	2	0	ZNF526	47421813	0.000000	0.05858	0.000000	0.03702	0.972000	0.66771	-0.022000	0.12480	0.093000	0.17368	0.650000	0.86243	CGC		0.657	ZNF526-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463681.2	XM_057401		A	42729973	G	A	42729973	3	1	734	1	0	0	0	0	1	0	0	0	17972	1087	38	1	1420	1	ZNF526	19	42729973	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	129644	42729973	16399010	957	42376											
ERF	2077	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	42754628	42754628	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:42754628G>A	ENST00000222329.4	-	2	269	c.112C>T	c.(112-114)Cgg>Tgg	p.R38W	AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000595941.1_5'UTR|ERF_ENST00000440177.2_5'UTR	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	38					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				TCCTCCTTCCGCAGCAGCTCC	0.622																																																0													56	49	52					19																	42754628		2203	4300	6503	SO:0001583	missense	2077			U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"Ets2 repressor factor"	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.112C>T	19.37:g.42754628G>A	ENSP00000222329:p.Arg38Trp		B2RAP1|B7Z4R0|Q59G38|Q9UPI7	Missense_Mutation	SNP	ENST00000222329.4	37	CCDS12600.1	.	.	.	.	.	.	.	.	.	.	G	18.53	3.643487	0.67244	.	.	ENSG00000105722	ENST00000222329	T	0.23754	1.89	5.45	3.27	0.37495	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.000000	0.85682	D	0.000000	T	0.39279	0.1072	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.21245	-1.0251	10	0.87932	D	0	.	12.9636	0.58472	0.0:0.0:0.7055:0.2945	.	38	P50548	ERF_HUMAN	W	38	ENSP00000222329:R38W	ENSP00000222329:R38W	R	-	1	2	ERF	47446468	0.030000	0.19436	0.992000	0.48379	0.952000	0.60782	0.880000	0.28159	0.766000	0.33244	0.655000	0.94253	CGG		0.622	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463684.1	NM_006494		A	42754628	G	A	42754628	3	1	734	1	0	0	0	0	1	0	0	0	5223	1086	38	1	1546	1	ERF	19	42754628	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	24655	42754628	16374355	958	42377											
MEGF8	1954	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	42861000	42861000	+	Missense_Mutation	SNP	G	G	A	rs397515427		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:42861000G>A	ENST00000251268.6	+	27	4697	c.4697G>A	c.(4696-4698)cGc>cAc	p.R1566H	MEGF8_ENST00000334370.4_Missense_Mutation_p.R1499H	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1566			R -> H (in CRPT2). {ECO:0000269|PubMed:23063620}.		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)				CCATCGCCCCGCTCCTTCCAT	0.662																																																0													29	27	28					19																	42861000		2197	4284	6481	SO:0001583	missense	1954			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"HBV pre s2 binding protein 1"	604267	"EGF-like-domain, multiple 4", "chromosome 19 open reading frame 49"	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.4697G>A	19.37:g.42861000G>A	ENSP00000251268:p.Arg1566His		A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37		.	.	.	.	.	.	.	.	.	.	G	22.3	4.267534	0.80469	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	D;D	0.83163	-1.69;-1.69	5.11	5.11	0.69529	Galactose oxidase/kelch, beta-propeller (1);Kelch-type beta propeller (1);	0.000000	0.64402	D	0.000001	D	0.92241	0.7539	M	0.87381	2.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.993	D	0.93570	0.6903	10	0.87932	D	0	-30.787	17.3138	0.87217	0.0:0.0:1.0:0.0	.	1566;1499	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	H	1499;1566	ENSP00000334219:R1499H;ENSP00000251268:R1566H	ENSP00000251268:R1566H	R	+	2	0	MEGF8	47552840	1.000000	0.71417	1.000000	0.80357	0.478000	0.33099	7.659000	0.83766	2.400000	0.81607	0.563000	0.77884	CGC		0.662	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		A	42861000	G	A	42861000	3	1	734	1	0	0	0	0	1	0	0	0	9465	1087	38	1	4598	1	MEGF8	19	42861000	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	106372	42861000	16267983	959	42378											
LYPD3	27076	hgsc.bcm.edu;ucsc.edu	37	19	43965542	43965542	+	Silent	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:43965542T>C	ENST00000244333.3	-	5	1090	c.1002A>G	c.(1000-1002)gcA>gcG	p.A334A		NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN	LY6/PLAUR domain containing 3	334					cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				ACAGAAGGGCTGCCAATCCAG	0.592																																																0													29	31	30					19																	43965542		2203	4300	6503	SO:0001819	synonymous_variant	27076			AF082889	CCDS12620.1	19q13.31	2008-02-05				ENSG00000124466			24880	protein-coding gene	gene with protein product		609484				11179665, 11245483	Standard	NM_014400		Approved	C4.4A	uc002owl.1	O95274		ENST00000244333.3:c.1002A>G	19.37:g.43965542T>C			Q9UJ74	Silent	SNP	ENST00000244333.3	37	CCDS12620.1																																																																																				0.592	LYPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463177.1	NM_014400		C	43965542	T	C	43965542	2	2	734	1	0	0	0	0	0	0	0	1	9113	1567	55	3		3	LYPD3	19	43965542	Silent	SNP	T	TCGA-KN-8428-01A-11D-2310-10	1104542	43965542	15163441	960	42379											
ZNF234	10780	broad.mit.edu;mdanderson.org;bcgsc.ca	37	19	44661482	44661482	+	Missense_Mutation	SNP	G	G	A	rs376364041		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:44661482G>A	ENST00000426739.2	+	6	1571	c.1313G>A	c.(1312-1314)cGt>cAt	p.R438H	ZNF234_ENST00000592437.1_Missense_Mutation_p.R438H	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	438					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)				AAAGCCTTCCGTCAGAGTTCA	0.413																																																0								G	HIS/ARG,HIS/ARG	0,4142		0,0,2071	60	61	61		1313,1313	2.8	0.4	19		61	1,8475		0,1,4237	no	missense,missense	ZNF234	NM_001144824.1,NM_006630.2	29,29	0,1,6308	AA,AG,GG		0.0118,0.0,0.0079	probably-damaging,probably-damaging	438/701,438/701	44661482	1,12617	2071	4238	6309	SO:0001583	missense	10780			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.1313G>A	19.37:g.44661482G>A	ENSP00000400878:p.Arg438His		A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Missense_Mutation	SNP	ENST00000426739.2	37	CCDS46101.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.996673	0.54147	0.0	1.18E-4	ENSG00000167380	ENST00000426739	T	0.07567	3.18	3.94	2.8	0.32819	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15132	0.0365	L	0.46157	1.445	0.09310	N	1	D	0.65815	0.995	P	0.55545	0.778	T	0.07271	-1.0781	9	0.41790	T	0.15	.	10.4269	0.44385	0.0:0.0:0.8053:0.1947	.	438	Q14588	ZN234_HUMAN	H	438	ENSP00000400878:R438H	ENSP00000400878:R438H	R	+	2	0	ZNF226	49353322	0.001000	0.12720	0.393000	0.26258	0.996000	0.88848	0.825000	0.27393	2.192000	0.70111	0.591000	0.81541	CGT		0.413	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460586.2			A	44661482	G	A	44661482	3	1	734	1	0	0	0	0	1	0	0	0	17792	1145	40	1	1327	1	ZNF234	19	44661482	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	695940	44661482	14467501	961	42380											
CEACAM16	388551	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	45207383	45207383	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:45207383G>A	ENST00000405314.2	+	3	575	c.478G>A	c.(478-480)Gcc>Acc	p.A160T	CTB-171A8.1_ENST00000590796.1_RNA|CEACAM16_ENST00000587331.1_Missense_Mutation_p.A160T			Q2WEN9	CEA16_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 16	160	Ig-like C2-type 1.				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)				CAGCCCCACCGCCGAGGTCCG	0.697																																																0													11	15	13					19																	45207383		1958	4115	6073	SO:0001583	missense	388551				CCDS54278.1	19q13.31	2014-01-27			ENSG00000213892	ENSG00000213892		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	31948	protein-coding gene	gene with protein product		614591				21368133	Standard	NM_001039213		Approved	DFNA4B	uc010xxd.2	Q2WEN9	OTTHUMG00000151519	ENST00000405314.2:c.478G>A	19.37:g.45207383G>A	ENSP00000385576:p.Ala160Thr		A7LI12	Missense_Mutation	SNP	ENST00000405314.2	37	CCDS54278.1	.	.	.	.	.	.	.	.	.	.	G	5.932	0.355948	0.11239	.	.	ENSG00000213892	ENST00000396750;ENST00000405314	T	0.12465	2.68	5.64	4.6	0.57074	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.298565	0.17891	U	0.158524	T	0.11707	0.0285	N	0.17764	0.52	0.09310	N	1	D	0.63046	0.992	P	0.50570	0.644	T	0.08472	-1.0720	10	0.09590	T	0.72	-17.3407	10.5959	0.45338	0.0888:0.0:0.9112:0.0	.	219	Q2WEN9	CEA16_HUMAN	T	225;160	ENSP00000385576:A160T	ENSP00000379974:A225T	A	+	1	0	CEACAM16	49899223	0.611000	0.26992	0.104000	0.21259	0.023000	0.10783	4.896000	0.63222	1.520000	0.48965	0.561000	0.74099	GCC		0.697	CEACAM16-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		XM_371177		A	45207383	G	A	45207383	3	1	734	1	0	0	0	0	1	0	0	0	3190	1087	38	1	488	1	CEACAM16	19	45207383	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	545901	45207383	13921600	962	42381											
BCL3	602	broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	45262838	45262838	+	Missense_Mutation	SNP	C	C	T	rs377071242		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:45262838C>T	ENST00000164227.5	+	9	1575	c.1331C>T	c.(1330-1332)cCg>cTg	p.P444L		NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3	444	Pro/Ser-rich.				antimicrobial humoral response (GO:0019730)|cellular response to DNA damage stimulus (GO:0006974)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|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)|protein import into nucleus, translocation (GO:0000060)|regulation of apoptotic process (GO:0042981)|regulation of DNA binding (GO:0051101)|regulation of NF-kappaB import into nucleus (GO:0042345)|response to UV-C (GO:0010225)|response to virus (GO:0009615)|spleen development (GO:0048536)|T-helper 1 type immune response (GO:0042088)|T-helper 2 cell differentiation (GO:0045064)|transcription, DNA-templated (GO:0006351)	Bcl3-Bcl10 complex (GO:0032996)|Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.P436Q(1)		kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				CCTGGCCGGCCGGTGCCCCCC	0.682			T	IGH@	CLL								C|||	1	0.000199681	0.0	0.0	5008	,	,		12004	0.001		0.0	False		,,,				2504	0.0						Dom	yes		19	19q13	602	B-cell CLL/lymphoma 3		L	1	Substitution - Missense(1)	ovary(1)						C	LEU/PRO	0,4404		0,0,2202	34	43	40		1331	4.6	1	19		40	2,8588		0,2,4293	no	missense	BCL3	NM_005178.4	98	0,2,6495	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	444/455	45262838	2,12992	2202	4295	6497	SO:0001583	missense	602			M31732	CCDS12642.2	19q13.1-q13.2	2013-01-10			ENSG00000069399	ENSG00000069399		"Ankyrin repeat domain containing"	998	protein-coding gene	gene with protein product	"B-cell lymphoma 3-encoded protein", "B-cell leukemia/lymphoma 3", "chronic lymphatic leukemia protein"	109560		D19S37, BCL4		1501714, 2180580	Standard	NM_005178		Approved		uc010xxe.2	P20749	OTTHUMG00000151517	ENST00000164227.5:c.1331C>T	19.37:g.45262838C>T	ENSP00000164227:p.Pro444Leu			Missense_Mutation	SNP	ENST00000164227.5	37	CCDS12642.2	.	.	.	.	.	.	.	.	.	.	C	17.71	3.456786	0.63401	0.0	2.33E-4	ENSG00000069399	ENST00000164227	T	0.47869	0.83	4.64	4.64	0.57946	.	0.000000	0.42548	D	0.000681	T	0.55847	0.1946	L	0.27053	0.805	0.47584	D	0.999465	D	0.89917	1.0	D	0.81914	0.995	T	0.61227	-0.7105	10	0.72032	D	0.01	-22.3929	14.9891	0.71371	0.0:1.0:0.0:0.0	.	444	P20749	BCL3_HUMAN	L	444	ENSP00000164227:P444L	ENSP00000164227:P444L	P	+	2	0	BCL3	49954678	0.975000	0.34042	0.968000	0.41197	0.951000	0.60555	2.622000	0.46427	2.115000	0.64714	0.491000	0.48974	CCG		0.682	BCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322976.1	NM_005178		T	45262838	C	T	45262838	3	4	734	1	0	0	0	0	1	0	0	0	1375	652	23	1	1365	1	BCL3	19	45262838	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	55455	45262838	13866145	963	42382											
PVRL2	5819	broad.mit.edu	37	19	45375403	45375403	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:45375403C>T	ENST00000252483.5	+	3	772	c.772C>T	c.(772-774)Cgc>Tgc	p.R258C	PVRL2_ENST00000252485.4_Missense_Mutation_p.R258C	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	258					acrosome assembly (GO:0001675)|adherens junction organization (GO:0034332)|adhesion of symbiont to host (GO:0044406)|cell junction assembly (GO:0034329)|cell part morphogenesis (GO:0032990)|cell-cell junction organization (GO:0045216)|cilium organization (GO:0044782)|coreceptor-mediated virion attachment to host cell (GO:0046814)|cytoskeleton organization (GO:0007010)|establishment of mitochondrion localization (GO:0051654)|fertilization (GO:0009566)|fusion of virus membrane with host plasma membrane (GO:0019064)|homophilic cell adhesion (GO:0007156)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|sperm mitochondrion organization (GO:0030382)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|virus receptor activity (GO:0001618)	p.R258C(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		CCTCTCTGTACGCTGTGAGTG	0.557																																																1	Substitution - Missense(1)	large_intestine(1)											160	118	132					19																	45375403		2203	4300	6503	SO:0001583	missense	5819			X80038	CCDS12645.1, CCDS42576.1	19q13.32	2013-01-29			ENSG00000130202	ENSG00000130202		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9707	protein-coding gene	gene with protein product		600798		HVEB		7622062, 10196354	Standard	NM_001042724		Approved	PVRR2, PRR2, CD112	uc002ozw.1	Q92692	OTTHUMG00000180839	ENST00000252483.5:c.772C>T	19.37:g.45375403C>T	ENSP00000252483:p.Arg258Cys		A8K5L5|O75455|Q6IBI6|Q96J29	Missense_Mutation	SNP	ENST00000252483.5	37	CCDS42576.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.172643	0.57584	.	.	ENSG00000130202	ENST00000252483;ENST00000252485	T;T	0.15487	2.42;2.42	4.25	3.15	0.36227	Immunoglobulin-like fold (1);	0.000000	0.49305	D	0.000142	T	0.36138	0.0956	M	0.79475	2.455	0.47441	D	0.999425	D;D	0.89917	1.0;1.0	P;D	0.65987	0.872;0.94	T	0.14643	-1.0465	10	0.72032	D	0.01	.	8.3414	0.32245	0.254:0.746:0.0:0.0	.	258;258	Q92692;Q92692-2	PVRL2_HUMAN;.	C	258	ENSP00000252483:R258C;ENSP00000252485:R258C	ENSP00000252483:R258C	R	+	1	0	PVRL2	50067243	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	2.396000	0.44468	2.190000	0.69967	0.561000	0.74099	CGC		0.557	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453231.1	NM_002856		T	45375403	C	T	45375403	3	4	734	1	0	0	0	0	1	0	0	0	12846	536	19	1	782	1	PVRL2	19	45375403	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	112565	45375403	13753580	964	42383											
TOMM40	10452	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	19	45397308	45397308	+	Missense_Mutation	SNP	G	G	A	rs373123327		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:45397308G>A	ENST00000426677.2	+	5	808	c.628G>A	c.(628-630)Gtc>Atc	p.V210I	TOMM40_ENST00000252487.5_Missense_Mutation_p.V210I|TOMM40_ENST00000592434.1_Missense_Mutation_p.V210I|TOMM40_ENST00000405636.2_Missense_Mutation_p.V210I	NM_001128917.1	NP_001122389.1	O96008	TOM40_HUMAN	translocase of outer mitochondrial membrane 40 homolog (yeast)	210					cellular protein metabolic process (GO:0044267)|ion transport (GO:0006811)|protein targeting to mitochondrion (GO:0006626)|protein transmembrane transport (GO:0071806)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial outer membrane translocase complex (GO:0005742)|pore complex (GO:0046930)	porin activity (GO:0015288)|protein transmembrane transporter activity (GO:0008320)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1)	5	Lung NSC(12;0.0018)|all_lung(12;0.00481)			OV - Ovarian serous cystadenocarcinoma(262;0.0033)|Epithelial(262;0.176)		GAACCCAGACGTCCTCGTGGG	0.577													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17156	0.0		0.0	False		,,,				2504	0.0															0								G	ILE/VAL,ILE/VAL,ILE/VAL	2,4404	2.1+/-5.4	0,2,2201	35	35	35		628,628,628	4.7	0.9	19		35	0,8600		0,0,4300	no	missense,missense,missense	TOMM40	NM_001128916.1,NM_001128917.1,NM_006114.2	29,29,29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign,benign,benign	210/362,210/362,210/362	45397308	2,13004	2203	4300	6503	SO:0001583	missense	10452			AF043250	CCDS12646.1	19q13	2008-07-04				ENSG00000130204			18001	protein-coding gene	gene with protein product		608061				10980201, 15644312	Standard	NM_006114		Approved	PEREC1, D19S1177E, C19orf1, TOM40, PER-EC1	uc002paa.4	O96008		ENST00000426677.2:c.628G>A	19.37:g.45397308G>A	ENSP00000410339:p.Val210Ile		Q86VW4|Q8WY09|Q8WY10|Q8WY11|Q9BR95	Missense_Mutation	SNP	ENST00000426677.2	37	CCDS12646.1	.	.	.	.	.	.	.	.	.	.	G	4.709	0.131812	0.08981	4.54E-4	0.0	ENSG00000130204	ENST00000426677;ENST00000405636;ENST00000252487	T;T;T	0.40225	1.04;1.04;1.04	4.66	4.66	0.58398	.	0.070286	0.56097	D	0.000025	T	0.17195	0.0413	N	0.11131	0.1	0.49582	D	0.999807	B;B	0.31290	0.318;0.046	B;B	0.24394	0.031;0.053	T	0.14643	-1.0465	10	0.02654	T	1	-6.3551	8.8123	0.34974	0.1042:0.0:0.8958:0.0	.	210;210	O96008-2;O96008	.;TOM40_HUMAN	I	210	ENSP00000410339:V210I;ENSP00000385184:V210I;ENSP00000252487:V210I	ENSP00000252487:V210I	V	+	1	0	TOMM40	50089148	0.996000	0.38824	0.916000	0.36221	0.676000	0.39594	2.372000	0.44257	2.133000	0.65898	0.561000	0.74099	GTC		0.577	TOMM40-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453241.1			A	45397308	G	A	45397308	3	1	734	1	0	0	0	0	1	0	0	0	16363	1145	40	1	646	1	TOMM40	19	45397308	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	21905	45397308	13731675	965	42384											
RSPH6A	81492	broad.mit.edu;ucsc.edu	37	19	46308230	46308230	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:46308230G>A	ENST00000221538.3	-	3	1075	c.933C>T	c.(931-933)ttC>ttT	p.F311F	RSPH6A_ENST00000600188.1_Silent_p.F47F|RSPH6A_ENST00000597055.1_Silent_p.F311F	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	311						intracellular (GO:0005622)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						CGGCCTGCTCGAAGTAGAAGG	0.617																																																0													46	43	44					19																	46308230		2203	4300	6503	SO:0001819	synonymous_variant	81492			AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"radial spokehead-like 1"	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.933C>T	19.37:g.46308230G>A			Q53FE2|Q6PEZ9	Silent	SNP	ENST00000221538.3	37	CCDS12675.1																																																																																				0.617	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461657.1			A	46308230	G	A	46308230	2	1	734	1	0	0	0	0	0	0	0	1	13713	1049	37	1		1	RSPH6A	19	46308230	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	910922	46308230	12820753	966	42385											
GRIN2D	2906	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	48945611	48945611	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:48945611G>A	ENST00000263269.3	+	12	2733	c.2645G>A	c.(2644-2646)cGc>cAc	p.R882H		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	882					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)	CCCACCCACCGCATGGACTTC	0.657																																																0													56	60	59					19																	48945611		2203	4300	6503	SO:0001583	missense	2906			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.2645G>A	19.37:g.48945611G>A	ENSP00000263269:p.Arg882His			Missense_Mutation	SNP	ENST00000263269.3	37	CCDS12719.1	.	.	.	.	.	.	.	.	.	.	g	13.09	2.132782	0.37630	.	.	ENSG00000105464	ENST00000263269	T	0.13196	2.61	3.85	2.82	0.32997	.	0.075697	0.50627	D	0.000120	T	0.08537	0.0212	N	0.20986	0.625	0.25545	N	0.987145	B	0.15473	0.013	B	0.08055	0.003	T	0.17531	-1.0366	10	0.56958	D	0.05	.	7.5626	0.27860	0.2035:0.0:0.7965:0.0	.	882	O15399	NMDE4_HUMAN	H	882	ENSP00000263269:R882H	ENSP00000263269:R882H	R	+	2	0	GRIN2D	53637423	0.999000	0.42202	1.000000	0.80357	0.463000	0.32649	2.343000	0.44001	2.161000	0.67846	0.450000	0.29827	CGC		0.657	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1			A	48945611	G	A	48945611	3	1	734	1	0	0	0	0	1	0	0	0	6784	1087	38	1	2687	1	GRIN2D	19	48945611	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	2637381	48945611	10183372	967	42386											
LMTK3	114783	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	19	49002432	49002432	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:49002432G>A	ENST00000600059.1	-	11	2121	c.1894C>T	c.(1894-1896)Cgg>Tgg	p.R632W	LMTK3_ENST00000270238.3_Missense_Mutation_p.R661W			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	632	Pro-rich.				negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GCGGTCCCCCGCTCCCCCAAG	0.731																																																0													3	3	3					19																	49002432		1342	3198	4540	SO:0001583	missense	114783			AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 101"						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.1894C>T	19.37:g.49002432G>A	ENSP00000472020:p.Arg632Trp		Q4G0U1	Missense_Mutation	SNP	ENST00000600059.1	37		.	.	.	.	.	.	.	.	.	.	G	13.39	2.221564	0.39300	.	.	ENSG00000142235	ENST00000270238	T	0.79247	-1.25	3.86	1.28	0.21552	.	1.169160	0.06763	U	0.782141	T	0.55049	0.1896	N	0.08118	0	0.25401	N	0.988445	D	0.56968	0.978	B	0.37422	0.249	T	0.51419	-0.8708	10	0.45353	T	0.12	.	7.4012	0.26965	0.0:0.184:0.6273:0.1887	.	632	Q96Q04	LMTK3_HUMAN	W	661	ENSP00000270238:R661W	ENSP00000270238:R661W	R	-	1	2	LMTK3	53694244	0.035000	0.19736	0.954000	0.39281	0.332000	0.28634	2.264000	0.43302	0.685000	0.31468	0.386000	0.25728	CGG		0.731	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000466137.1	NM_052895		A	49002432	G	A	49002432	3	1	734	1	0	0	0	0	1	0	0	0	8862	1086	38	1	2508	1	LMTK3	19	49002432	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	56821	49002432	10126551	968	42387											
FUT2	2524	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	49206425	49206425	+	Missense_Mutation	SNP	G	G	A	rs374416675		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:49206425G>A	ENST00000425340.2	+	2	329	c.212G>A	c.(211-213)cGc>cAc	p.R71H	FUT2_ENST00000391876.4_Missense_Mutation_p.R71H	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN	fucosyltransferase 2 (secretor status included)	71					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	fucosyltransferase activity (GO:0008417)|galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		GCAATAGGCCGCCTGGGGAAC	0.622																																																0								G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	59	56	57		212,212	4.3	1	19		57	0,8600		0,0,4300	no	missense,missense	FUT2	NM_000511.5,NM_001097638.2	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	71/344,71/344	49206425	1,13005	2203	4300	6503	SO:0001583	missense	2524				CCDS33069.1	19q13.33	2014-07-19			ENSG00000176920	ENSG00000176920		"Fucosyltransferases"	4013	protein-coding gene	gene with protein product	"alpha (1,2) fucosyltransferase", "galactoside 2-alpha-L-fucosyltransferase 2", "GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 2", "alpha(1,2)FT2", "secretor factor", "secretor blood group alpha-2-fucosyltransferase"	182100		SE		1763885	Standard	NM_000511		Approved	sej, Se2, SEC2	uc010emc.3	Q10981	OTTHUMG00000164427	ENST00000425340.2:c.212G>A	19.37:g.49206425G>A	ENSP00000387498:p.Arg71His		Q0VAG5|Q14338|Q5D0G2	Missense_Mutation	SNP	ENST00000425340.2	37	CCDS33069.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.153140	0.78001	2.27E-4	0.0	ENSG00000176920	ENST00000522966;ENST00000425340;ENST00000391876	D;D;D	0.96802	-4.13;-4.13;-4.13	4.33	4.33	0.51752	.	.	.	.	.	D	0.98283	0.9431	M	0.90759	3.145	0.42790	D	0.993895	D	0.89917	1.0	D	0.97110	1.0	D	0.99712	1.1007	9	0.87932	D	0	.	14.7241	0.69329	0.0:0.0:1.0:0.0	.	71	Q10981	FUT2_HUMAN	H	71	ENSP00000430227:R71H;ENSP00000387498:R71H;ENSP00000375748:R71H	ENSP00000375748:R71H	R	+	2	0	FUT2	53898237	1.000000	0.71417	0.999000	0.59377	0.801000	0.45260	5.966000	0.70395	2.131000	0.65755	0.549000	0.68633	CGC		0.622	FUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378731.2	NM_000511		A	49206425	G	A	49206425	3	1	734	1	0	0	0	0	1	0	0	0	6106	1087	38	1	214	1	FUT2	19	49206425	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	203993	49206425	9922558	969	42388											
GYS1	2997	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	19	49473833	49473833	+	Silent	SNP	G	G	A	rs372542706		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:49473833G>A	ENST00000323798.3	-	14	1975	c.1779C>T	c.(1777-1779)tcC>tcT	p.S593S	GYS1_ENST00000263276.6_Silent_p.S529S|GYS1_ENST00000541188.1_Silent_p.S513S|GYS1_ENST00000544287.1_Silent_p.S226S	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	593					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|heart development (GO:0007507)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|inclusion body (GO:0016234)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		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;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		CCAGAAGGTCGGAGAGGCGCT	0.597											OREG0025611	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0								G	,	1,4405	2.1+/-5.4	0,1,2202	33	37	36		1587,1779	-10.4	0.1	19		36	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	GYS1	NM_001161587.1,NM_002103.4	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	529/674,593/738	49473833	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2997				CCDS12747.1, CCDS54292.1	19q13.3	2013-02-22			ENSG00000104812	ENSG00000104812	2.4.1.11	"Glycosyltransferase group 1 domain containing"	4706	protein-coding gene	gene with protein product		138570		GYS			Standard	NM_002103		Approved	GSY	uc002plp.3	P13807	OTTHUMG00000150723	ENST00000323798.3:c.1779C>T	19.37:g.49473833G>A		962	Q9BTT9	Silent	SNP	ENST00000323798.3	37	CCDS12747.1																																																																																				0.597	GYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319791.1	NM_002103		A	49473833	G	A	49473833	2	1	734	1	0	0	0	0	0	0	0	1	6914	1103	39	1		1	GYS1	19	49473833	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	267408	49473833	9655150	970	42389											
NTF4	4909	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	19	49564657	49564657	+	Missense_Mutation	SNP	C	C	T	rs200081067		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:49564657C>T	ENST00000593537.1	-	1	597	c.598G>A	c.(598-600)Gtc>Atc	p.V200I	NTF4_ENST00000451356.2_Intron|CTB-60B18.18_ENST00000599209.1_lincRNA|NTF4_ENST00000594938.1_5'Flank|CGB7_ENST00000356213.4_5'Flank|CGB7_ENST00000597853.1_5'Flank|CTB-60B18.12_ENST00000597865.1_RNA|NTF4_ENST00000301411.3_Missense_Mutation_p.V200I			P34130	NTF4_HUMAN	neurotrophin 4	200					adult locomotory behavior (GO:0008344)|epidermis development (GO:0008544)|ganglion mother cell fate determination (GO:0007402)|innervation (GO:0060384)|long-term memory (GO:0007616)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell death (GO:0060548)|sensory organ boundary specification (GO:0008052)|taste bud development (GO:0061193)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	growth factor activity (GO:0008083)			kidney(1)|lung(4)|upper_aerodigestive_tract(1)	6		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;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		AGTGTGCAGACGCAGGCAGTG	0.602																																																0													37	34	35					19																	49564657		2203	4300	6503	SO:0001583	missense	4909				CCDS12754.1	19q13.3	2014-01-30	2008-01-31	2008-01-31		ENSG00000225950		"Endogenous ligands"	8024	protein-coding gene	gene with protein product	"neurotrophic factor 4"	162662	"neurotrophin 5 (neurotrophin 4/5)"	NTF5		1496419	Standard	NM_006179		Approved	NT-4/5, GLC1O	uc010yah.1	P34130		ENST00000593537.1:c.598G>A	19.37:g.49564657C>T	ENSP00000469455:p.Val200Ile		Q6FH56	Missense_Mutation	SNP	ENST00000593537.1	37	CCDS12754.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.387981	0.82902	.	.	ENSG00000167744	ENST00000301411	T	0.72835	-0.69	3.27	3.27	0.37495	Nerve growth factor-related (5);	0.000000	0.64402	D	0.000013	T	0.78168	0.4241	M	0.64170	1.965	0.54753	D	0.999981	D	0.76494	0.999	P	0.58454	0.839	T	0.82067	-0.0641	10	0.87932	D	0	-2.3554	14.4638	0.67470	0.0:1.0:0.0:0.0	.	200	P34130	NTF4_HUMAN	I	200	ENSP00000301411:V200I	ENSP00000301411:V200I	V	-	1	0	NTF4	54256469	1.000000	0.71417	0.995000	0.50966	0.883000	0.51084	7.450000	0.80656	2.150000	0.67090	0.313000	0.20887	GTC		0.602	NTF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466258.1	NM_006179		T	49564657	C	T	49564657	3	4	734	1	0	0	0	0	1	0	0	0	10699	536	19	1	38	1	NTF4	19	49564657	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	90824	49564657	9564326	971	42390											
AP2A1	160	hgsc.bcm.edu	37	19	50305240	50305240	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:50305240G>A	ENST00000359032.5	+	15	1956	c.1956G>A	c.(1954-1956)tcG>tcA	p.S652S	AP2A1_ENST00000354293.5_Silent_p.S652S	NM_014203.2	NP_055018.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	652					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	AP-2 adaptor complex (GO:0030122)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		TCCTACAGTCGACGCCCTCGC	0.731																																																0													5	7	6					19																	50305240		1835	3913	5748	SO:0001819	synonymous_variant	160			AA993745	CCDS46148.1, CCDS46149.1	19q13.3	2008-05-23				ENSG00000196961			561	protein-coding gene	gene with protein product		601026		CLAPA1, ADTAA		2564002	Standard	NM_014203		Approved		uc002ppn.3	O95782		ENST00000359032.5:c.1956G>A	19.37:g.50305240G>A			Q96CI7|Q96PP6|Q96PP7|Q9H070	Silent	SNP	ENST00000359032.5	37	CCDS46148.1																																																																																				0.731	AP2A1-008	NOVEL	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465809.1			A	50305240	G	A	50305240	2	1	734	1	0	0	0	0	0	0	0	1	739	1045	37	1		1	AP2A1	19	50305240	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	740583	50305240	8823743	972	42391											
ZNF473	25888	broad.mit.edu;ucsc.edu;mdanderson.org	37	19	50548036	50548036	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:50548036C>T	ENST00000595661.1	+	6	831	c.336C>T	c.(334-336)ttC>ttT	p.F112F	ZNF473_ENST00000391821.2_Silent_p.F112F|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000445728.3_Silent_p.F100F|ZNF473_ENST00000270617.3_Silent_p.F112F|CTD-2126E3.3_ENST00000599410.1_RNA			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	112					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		ACTCCAATTTCGGAGAAGCCT	0.473																																																0													64	64	64					19																	50548036		2203	4300	6503	SO:0001819	synonymous_variant	25888			AB032967	CCDS33077.1	19q13.33	2013-01-08						"Zinc fingers, C2H2-type", "-"	23239	protein-coding gene	gene with protein product						11782445	Standard	NM_015428		Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7		ENST00000595661.1:c.336C>T	19.37:g.50548036C>T			A8K8T7|Q9ULS9|Q9Y4Q7	Silent	SNP	ENST00000595661.1	37	CCDS33077.1																																																																																				0.473	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464833.1	XM_046390		T	50548036	C	T	50548036	2	4	734	1	0	0	0	0	0	0	0	1	17936	883	31	1		1	ZNF473	19	50548036	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	242796	50548036	8580947	973	42392											
MYH14	79784	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	19	50760714	50760714	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:50760714C>T	ENST00000596571.1	+	15	2080	c.2080C>T	c.(2080-2082)Cgc>Tgc	p.R694C	MYH14_ENST00000440075.2_Missense_Mutation_p.R735C|MYH14_ENST00000262269.8_Missense_Mutation_p.R735C|MYH14_ENST00000425460.1_Missense_Mutation_p.R702C|MYH14_ENST00000376970.2_Missense_Mutation_p.R727C|MYH14_ENST00000601313.1_Missense_Mutation_p.R735C|MYH14_ENST00000598205.1_Missense_Mutation_p.R702C			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	694	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)		CAGTTTTGTCCGCTGCATTGT	0.612																																																0													31	34	33					19																	50760714		2136	4251	6387	SO:0001583	missense	79784			AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"Myosins / Myosin superfamily : Class II"	23212	protein-coding gene	gene with protein product		608568	"myosin, heavy polypeptide 14", "myosin, heavy chain 14"	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.2080C>T	19.37:g.50760714C>T	ENSP00000472819:p.Arg694Cys		B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	ENST00000596571.1	37	CCDS59411.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.660691	0.88154	.	.	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	D;D;D;D	0.90732	-2.72;-2.72;-2.72;-2.72	4.51	4.51	0.55191	Myosin head, motor domain (2);	.	.	.	.	D	0.97315	0.9122	H	0.98701	4.305	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.996	D	0.98463	1.0597	9	0.87932	D	0	.	15.1131	0.72375	0.0:1.0:0.0:0.0	.	735;694;702	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	C	694;735;727;702;694;735	ENSP00000406273:R735C;ENSP00000366169:R727C;ENSP00000407879:R702C;ENSP00000262269:R735C	ENSP00000262269:R735C	R	+	1	0	MYH14	55452526	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.546000	0.82137	2.520000	0.84964	0.655000	0.94253	CGC		0.612	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		T	50760714	C	T	50760714	3	4	734	1	0	0	0	0	1	0	0	0	10035	652	23	1	2269	1	MYH14	19	50760714	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	212678	50760714	8368269	974	42393											
LRRC4B	94030	broad.mit.edu	37	19	51021776	51021776	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:51021776C>T	ENST00000599957.1	-	3	1391	c.1194G>A	c.(1192-1194)acG>acA	p.T398T	LRRC4B_ENST00000389201.3_Silent_p.T398T			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	398	Ig-like C2-type.				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)		TGCCGTTGGGCGTCAGCCAGT	0.647																																																0													61	71	68					19																	51021776		2190	4279	6469	SO:0001819	synonymous_variant	94030			BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"Immunoglobulin superfamily / I-set domain containing", "Endogenous ligands"	25042	protein-coding gene	gene with protein product	"netrin-G3 ligand"		"leucine-rich repeats and immunoglobulin-like domains 4"	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.1194G>A	19.37:g.51021776C>T			Q3ZCQ4|Q58F20	Silent	SNP	ENST00000599957.1	37	CCDS42595.1																																																																																				0.647	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464907.1	NM_001080457		T	51021776	C	T	51021776	2	4	734	1	0	0	0	0	0	0	0	1	9009	755	27	1		1	LRRC4B	19	51021776	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	261062	51021776	8107207	975	42394											
SIGLEC7	27036	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	19	51646040	51646040	+	Silent	SNP	G	G	A	rs541602063		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:51646040G>A	ENST00000317643.6	+	1	483	c.414G>A	c.(412-414)caG>caA	p.Q138Q	SIGLEC7_ENST00000600577.1_Silent_p.Q138Q|SIGLEC7_ENST00000305628.7_Silent_p.Q138Q	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	138					cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		AATATGACCAGCTCTCTGTGA	0.483													.|||	1	0.000199681	0.0	0.0	5008	,	,		20713	0.001		0.0	False		,,,				2504	0.0															0													68	73	71					19																	51646040		2203	4300	6503	SO:0001819	synonymous_variant	27036			AF170485	CCDS12826.1, CCDS42601.1, CCDS62771.1	19q13.41	2014-03-20			ENSG00000168995	ENSG00000168995		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10876	protein-coding gene	gene with protein product		604410	"sialic acid binding Ig-like lectin 19, pseudogene", "sialic acid binding Ig-like lectin, pseudogene 2"	SIGLEC19P, SIGLECP2		10567377	Standard	NM_001277201		Approved	SIGLEC-7, p75/AIRM1, QA79, CD328	uc002pvv.1	Q9Y286	OTTHUMG00000182895	ENST00000317643.6:c.414G>A	19.37:g.51646040G>A			Q9NZQ1|Q9UJ86|Q9UJ87|Q9Y502	Silent	SNP	ENST00000317643.6	37	CCDS12826.1																																																																																				0.483	SIGLEC7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464226.2	NM_016543		A	51646040	G	A	51646040	2	1	734	1	0	0	0	0	0	0	0	1	14319	962	34	2		2	SIGLEC7	19	51646040	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	624264	51646040	7482943	976	42395											
CD33	945	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	19	51738931	51738931	+	Splice_Site	SNP	G	G	A	rs111722079		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:51738931G>A	ENST00000262262.4	+	6	945	c.924G>A	c.(922-924)ccG>ccA	p.P308P	CD33_ENST00000436584.2_Silent_p.P181P|CD33_ENST00000391796.3_Splice_Site_p.P308P|CD33_ENST00000421133.2_Splice_Site_p.P181P	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	308					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|negative regulation of cell proliferation (GO:0008285)|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)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	CAGCCTCCCCGGTGAGTGATG	0.597													g|||	1	0.000199681	0.0	0.0	5008	,	,		16666	0.0		0.001	False		,,,				2504	0.0															0								G	,,	0,4406		0,0,2203	68	58	61		543,924,924	2.7	0.8	19	dbSNP_132	61	8,8588	6.4+/-24.3	0,8,4290	yes	coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice	CD33	NM_001082618.1,NM_001177608.1,NM_001772.3	,,	0,8,6493	AA,AG,GG		0.0931,0.0,0.0615	,,	181/238,308/311,308/365	51738931	8,12994	2203	4298	6501	SO:0001630	splice_region_variant	945			M23197	CCDS33084.1, CCDS46157.1, CCDS54299.1	19q13.3	2013-01-29	2006-03-28		ENSG00000105383	ENSG00000105383		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1659	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 3"	159590	"CD33 antigen (gp67)"			3139766, 9465907	Standard	NM_001772		Approved	SIGLEC3, SIGLEC-3, p67, FLJ00391	uc002pwa.2	P20138		ENST00000262262.4:c.924+1G>A	19.37:g.51738931G>A			B4E3P8|C9JEN7|F8WAL2|Q8TD24	Silent	SNP	ENST00000262262.4	37	CCDS33084.1																																																																																				0.597	CD33-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464199.2	NM_001772	Silent	A	51738931	G	A	51738931	5	1	734	1	0	0	0	0	0	0	1	0	3007	1130	39	1	946	1	CD33	19	51738931	Splice_Site	SNP	G	TCGA-KN-8428-01A-11D-2310-10	92891	51738931	7390052	977	42396											
HAS1	3036	hgsc.bcm.edu	37	19	52217097	52217097	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:52217097G>A	ENST00000222115.1	-	5	1354	c.1320C>T	c.(1318-1320)ggC>ggT	p.G440G	HAS1_ENST00000540069.2_Silent_p.G439G|HAS1_ENST00000601714.1_Silent_p.G447G	NM_001523.2	NP_001514.2	Q92839	HYAS1_HUMAN	hyaluronan synthase 1	440					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)		CCAGTGCCACGCCCTGCACGC	0.697																																					NSCLC(132;636 2450 45807 47979)											0													21	21	21					19																	52217097		2188	4289	6477	SO:0001819	synonymous_variant	3036			U59269	CCDS12838.1, CCDS74436.1	19q13.3-q13.4	2013-02-22			ENSG00000105509	ENSG00000105509	2.4.1.212	"Glycosyltransferase family 2 domain containing"	4818	protein-coding gene	gene with protein product		601463		HAS		9169154	Standard	XM_005258834		Approved		uc002pxo.1	Q92839		ENST00000222115.1:c.1320C>T	19.37:g.52217097G>A			Q14470|Q9NS49	Silent	SNP	ENST00000222115.1	37	CCDS12838.1																																																																																				0.697	HAS1-005	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466953.1	NM_001523		A	52217097	G	A	52217097	2	1	734	1	0	0	0	0	0	0	0	1	6963	1074	38	1		1	HAS1	19	52217097	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	478166	52217097	6911886	978	42397											
ZNF616	90317	broad.mit.edu;mdanderson.org	37	19	52619951	52619951	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:52619951T>C	ENST00000600228.1	-	4	727	c.466A>G	c.(466-468)Act>Gct	p.T156A	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	156					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)		CTCCCTTCAGTTTGAACTTTC	0.363																																																0													161	148	153					19																	52619951		2202	4300	6502	SO:0001583	missense	90317			AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"Zinc fingers, C2H2-type", "-"	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.466A>G	19.37:g.52619951T>C	ENSP00000471000:p.Thr156Ala		B3KRV1|Q0P658|Q658V7	Missense_Mutation	SNP	ENST00000600228.1	37	CCDS33090.1	.	.	.	.	.	.	.	.	.	.	T	15.07	2.723677	0.48728	.	.	ENSG00000204611	ENST00000330123	.	.	.	1.57	0.191	0.15130	.	.	.	.	.	T	0.49729	0.1574	M	0.75264	2.295	0.23727	N	0.997009	P	0.45569	0.861	P	0.51701	0.677	T	0.38001	-0.9681	8	0.45353	T	0.12	.	6.4896	0.22107	0.0:0.0:0.2421:0.7579	.	156	Q08AN1	ZN616_HUMAN	A	156	.	ENSP00000328722:T156A	T	-	1	0	ZNF616	57311763	0.000000	0.05858	0.011000	0.14972	0.036000	0.12997	0.067000	0.14510	0.701000	0.31803	0.254000	0.18369	ACT		0.363	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	XM_030892		C	52619951	T	C	52619951	3	2	734	1	0	0	0	0	1	0	0	0	18046	1725	60	3	1883	3	ZNF616	19	52619951	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	402854	52619951	6509032	979	42398											
ZNF534	147658	broad.mit.edu	37	19	52941908	52941908	+	Nonsense_Mutation	SNP	C	C	T	rs199880338		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:52941908C>T	ENST00000332323.6	+	4	1295	c.1234C>T	c.(1234-1236)Cga>Tga	p.R412*	ZNF534_ENST00000433050.1_Nonsense_Mutation_p.R399*|ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000432303.2_Intron	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	412					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)|lung(1)|prostate(1)|skin(1)	4						ACGCCTTGCACGACATAGGAA	0.423													C|||	1	0.000199681	0.0	0.0	5008	,	,		23868	0.0		0.0	False		,,,				2504	0.001															0								C	stop/ARG,stop/ARG	0,1384		0,0,692	87	79	81		1195,1234	-2.5	0	19		81	1,3181		0,1,1590	no	stop-gained,stop-gained	ZNF534	NM_001143938.1,NM_001143939.1	,	0,1,2282	TT,TC,CC		0.0314,0.0,0.0219	,	399/662,412/675	52941908	1,4565	692	1591	2283	SO:0001587	stop_gained	147658			AK058073	CCDS46165.1, CCDS46166.1	19q13.41	2013-01-08	2004-02-06	2004-02-11	ENSG00000198633	ENSG00000198633		"Zinc fingers, C2H2-type", "-"	26337	protein-coding gene	gene with protein product			"KRAB domain only 3"	KRBO3			Standard	NM_001143938		Approved	FLJ25344	uc002pzk.3	Q76KX8	OTTHUMG00000156493	ENST00000332323.6:c.1234C>T	19.37:g.52941908C>T	ENSP00000327538:p.Arg412*		Q76KX9	Nonsense_Mutation	SNP	ENST00000332323.6	37	CCDS46165.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.450957	0.43531	0.0	3.14E-4	ENSG00000198633	ENST00000332323;ENST00000433050;ENST00000391790	.	.	.	1.76	-2.52	0.06346	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	0.327	0.00312	0.1935:0.2786:0.1922:0.3357	.	.	.	.	X	412;399;411	.	ENSP00000327538:R412X	R	+	1	2	ZNF534	57633720	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-9.090000	0.00014	-0.646000	0.05452	0.411000	0.27672	CGA		0.423	ZNF534-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460877.1	NM_182512		T	52941908	C	T	52941908	4	4	734	1	0	0	0	0	0	1	0	0	17978	528	19	1	1248	1	ZNF534	19	52941908	Nonsense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	321957	52941908	6187075	980	42399											
TSEN34	79042	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	19	54696083	54696083	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:54696083T>C	ENST00000396383.1	+	4	915	c.604T>C	c.(604-606)Tgg>Cgg	p.W202R	MBOAT7_ENST00000431666.2_5'Flank|TSEN34_ENST00000396388.2_Missense_Mutation_p.W202R|CTD-3093M3.1_ENST00000594382.1_lincRNA|TSEN34_ENST00000302937.4_Missense_Mutation_p.W202R|MBOAT7_ENST00000474910.1_5'Flank|MBOAT7_ENST00000391754.1_5'Flank|MBOAT7_ENST00000245615.1_5'Flank|TSEN34_ENST00000429671.2_Missense_Mutation_p.W202R|MBOAT7_ENST00000338624.6_5'Flank			Q9BSV6	SEN34_HUMAN	TSEN34 tRNA splicing endonuclease subunit	202					mRNA processing (GO:0006397)|tRNA-type intron splice site recognition and cleavage (GO:0000379)	tRNA-intron endonuclease complex (GO:0000214)	lyase activity (GO:0016829)|nucleic acid binding (GO:0003676)|tRNA-intron endonuclease activity (GO:0000213)			endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	10	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCCCCTGGACTGGCGTGTCCA	0.647																																					Esophageal Squamous(37;841 964 4869 42824)											0													53	56	55					19																	54696083		1873	4083	5956	SO:0001583	missense	79042			AF211970	CCDS42609.1, CCDS74446.1	19q13.4	2013-08-06	2013-08-06	2005-03-12	ENSG00000170892	ENSG00000170892		"tRNA splicing endonuclease subunits"	15506	protein-coding gene	gene with protein product		608754	"leukocyte receptor cluster (LRC) member 5", "tRNA splicing endonuclease 34 homolog (SEN34, S. cerevisiae)", "tRNA splicing endonuclease 34 homolog (S. cerevisiae)"	LENG5		10941842, 15109492	Standard	NM_024075		Approved	SEN34, SEN34L	uc002qdw.3	Q9BSV6	OTTHUMG00000066515	ENST00000396383.1:c.604T>C	19.37:g.54696083T>C	ENSP00000379667:p.Trp202Arg		A6NNB1|B0V3J1|Q9BVT1|Q9H6H5	Missense_Mutation	SNP	ENST00000396383.1	37	CCDS42609.1	.	.	.	.	.	.	.	.	.	.	T	12.83	2.054183	0.36277	.	.	ENSG00000170892	ENST00000455798;ENST00000456872;ENST00000302937;ENST00000429671;ENST00000396383;ENST00000396388	T;T;T;T;T;T	0.62941	-0.01;0.02;0.03;0.02;0.03;0.03	4.56	4.56	0.56223	.	0.135233	0.53938	D	0.000042	T	0.41534	0.1163	N	0.24115	0.695	0.33529	D	0.593424	B;B	0.31968	0.15;0.349	B;B	0.24848	0.041;0.056	T	0.50701	-0.8797	10	0.10377	T	0.69	.	11.7599	0.51896	0.0:0.0:0.0:1.0	.	202;202	E7EQB3;Q9BSV6	.;SEN34_HUMAN	R	202;205;202;202;202;202	ENSP00000400743:W202R;ENSP00000408689:W205R;ENSP00000305524:W202R;ENSP00000397402:W202R;ENSP00000379667:W202R;ENSP00000379671:W202R	ENSP00000305524:W202R	W	+	1	0	TSEN34	59387895	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.144000	0.31565	1.842000	0.53543	0.459000	0.35465	TGG		0.647	TSEN34-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142200.1	NM_024075		C	54696083	T	C	54696083	3	2	734	1	0	0	0	0	1	0	0	0	16618	1580	55	3	614	3	TSEN34	19	54696083	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	1754175	54696083	4432900	981	42400											
LENG8	114823	hgsc.bcm.edu;mdanderson.org	37	19	54966579	54966579	+	Silent	SNP	C	C	T	rs889147	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:54966579C>T	ENST00000326764.5	+	8	1337	c.858C>T	c.(856-858)ccC>ccT	p.P286P	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	249										breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		CTGGGAAGCCCGATGACTGGC	0.617																																																0													51	59	56					19																	54966579		2202	4300	6502	SO:0001819	synonymous_variant	114823			AF211975	CCDS12894.1	19q13.4	2008-02-05			ENSG00000167615	ENSG00000167615			15500	protein-coding gene	gene with protein product						10941842	Standard	XM_005278248		Approved	KIAA1932, MGC40108, pp13842	uc002qfw.2	Q96PV6	OTTHUMG00000065548	ENST00000326764.5:c.858C>T	19.37:g.54966579C>T			B0VJY9|Q8IZ27|Q8NCX6	Silent	SNP	ENST00000326764.5	37	CCDS12894.1																																																																																				0.617	LENG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140523.2	NM_052925		T	54966579	C	T	54966579	2	4	734	1	0	0	0	0	0	0	0	1	8726	639	23	1		1	LENG8	19	54966579	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	270496	54966579	4162404	982	42401											
KIR3DL3	115653	broad.mit.edu;mdanderson.org;bcgsc.ca	37	19	55239156	55239156	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:55239156G>A	ENST00000291860.1	+	4	453	c.435G>A	c.(433-435)tgG>tgA	p.W145*	KIR3DL1_ENST00000541392.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000538269.1_Intron	NM_153443.3	NP_703144.2	Q8N743	KI3L3_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3	145	Ig-like C2-type 2. {ECO:0000305}.					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)		TGCAATGTTGGTCAGATGTCA	0.572																																																0													30	24	26					19																	55239156		1948	3303	5251	SO:0001587	stop_gained	115653			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.435G>A	19.37:g.55239156G>A	ENSP00000291860:p.Trp145*		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	Nonsense_Mutation	SNP	ENST00000291860.1	37	CCDS12903.1	.	.	.	.	.	.	.	.	.	.	N	11.70	1.716055	0.30413	.	.	ENSG00000242019	ENST00000291860	.	.	.	1.38	-2.75	0.05914	.	1.619910	0.04495	U	0.380315	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.4034	0.07332	0.0:0.3197:0.4555:0.2248	.	.	.	.	X	145	.	ENSP00000291860:W145X	W	+	3	0	KIR3DL3	59930968	0.001000	0.12720	0.000000	0.03702	0.051000	0.14879	-0.574000	0.05868	-0.726000	0.04895	0.205000	0.17691	TGG		0.572	KIR3DL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141147.1	NM_153443		A	55239156	G	A	55239156	4	1	734	1	0	0	0	0	0	1	0	0	8324	1270	44	2	449	2	KIR3DL3	19	55239156	Nonsense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	272577	55239156	3889827	983	42402											
ZNF628	89887	mdanderson.org	37	19	55995597	55995597	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:55995597G>A	ENST00000598519.1	+	3	3590	c.3037G>A	c.(3037-3039)Gcg>Acg	p.A1013T	NAT14_ENST00000205194.4_5'Flank|NAT14_ENST00000591590.1_5'Flank|NAT14_ENST00000587400.1_5'Flank|ZNF628_ENST00000391718.2_Missense_Mutation_p.A1009T			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	1013					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(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		CTCGGGCCCCGCGGGGCTCCC	0.716																																																0													3	3	3					19																	55995597		1920	3767	5687	SO:0001583	missense	89887			AF367249	CCDS33116.3	19q13.43	2013-01-08			ENSG00000197483	ENSG00000197483		"Zinc fingers, C2H2-type"	28054	protein-coding gene	gene with protein product	"Zinc finger expressed in Embryonal cells and Certain adult organs"	610671					Standard	NM_033113		Approved	ZEC, Zfp628	uc002qld.3	Q5EBL2	OTTHUMG00000150396	ENST00000598519.1:c.3037G>A	19.37:g.55995597G>A	ENSP00000469591:p.Ala1013Thr		Q86X34	Missense_Mutation	SNP	ENST00000598519.1	37	CCDS33116.3	.	.	.	.	.	.	.	.	.	.	.	7.440	0.640533	0.14386	.	.	ENSG00000197483	ENST00000391718	T	0.07908	3.15	2.98	1.92	0.25849	.	0.899723	0.09173	N	0.838513	T	0.04407	0.0121	N	0.08118	0	0.09310	N	1	B	0.16166	0.016	B	0.06405	0.002	T	0.41233	-0.9520	10	0.41790	T	0.15	-0.551	5.8577	0.18728	0.1534:0.0:0.8466:0.0	.	1009	Q5EBL2	ZN628_HUMAN	T	1009	ENSP00000375598:A1009T	ENSP00000375598:A1009T	A	+	1	0	ZNF628	60687409	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.543000	0.23237	0.601000	0.29879	0.472000	0.43445	GCG		0.716	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2	XM_058964		A	55995597	G	A	55995597	3	1	734	1	0	0	0	0	1	0	0	0	18057	1087	38	1	3027	1	ZNF628	19	55995597	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	756441	55995597	3133386	984	42403											
ZNF835	90485	mdanderson.org	37	19	57175578	57175578	+	Missense_Mutation	SNP	C	C	T	rs12610410	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:57175578C>T	ENST00000537055.2	-	2	1220	c.989G>A	c.(988-990)gGc>gAc	p.G330D		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	330					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						GGGCTTCTCGCCTGTGTGGAT	0.706													.|||	598	0.119409	0.0817	0.0692	5008	,	,		17838	0.1667		0.1223	False		,,,				2504	0.1544															0								C	ASP/GLY	316,4088		23,270,1909	19	19	19		989	2.1	0	19	dbSNP_120	19	1177,7417		79,1019,3199	yes	missense	ZNF835	NM_001005850.2	94	102,1289,5108	TT,TC,CC		13.6956,7.1753,11.4864	probably-damaging	330/538	57175578	1493,11505	2202	4297	6499	SO:0001583	missense	90485			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.989G>A	19.37:g.57175578C>T	ENSP00000444747:p.Gly330Asp		B7Z5Y0|G3V1S0	Missense_Mutation	SNP	ENST00000537055.2	37	CCDS56105.1	263	0.12042124542124542	54	0.10975609756097561	25	0.06906077348066299	99	0.17307692307692307	85	0.11213720316622691	C	21.3	4.123991	0.77436	0.071753	0.136956	ENSG00000127903	ENST00000342088;ENST00000537055	T	0.26660	1.72	2.12	2.12	0.27331	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00178	0.0005	M	0.64676	1.99	0.31405	P	0.676168	D	0.89917	1.0	D	0.85130	0.997	T	0.09707	-1.0662	8	0.66056	D	0.02	.	11.9519	0.52961	0.0:1.0:0.0:0.0	rs12610410	352	Q9Y2P0	ZN835_HUMAN	D	352;330	ENSP00000444747:G330D	ENSP00000341756:G352D	G	-	2	0	ZNF835	61867390	0.926000	0.31397	0.003000	0.11579	0.279000	0.26890	4.604000	0.61112	1.502000	0.48669	0.561000	0.74099	GGC		0.706	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		T	57175578	C	T	57175578	3	4	734	1	0	0	0	0	1	0	0	0	18191	739	26	2	626	2	ZNF835	19	57175578	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1179981	57175578	1953405	985	42404											
ZIM3	114026	broad.mit.edu	37	19	57647366	57647366	+	Silent	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:57647366A>G	ENST00000269834.1	-	5	724	c.339T>C	c.(337-339)acT>acC	p.T113T	U3_ENST00000516874.1_RNA	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	113					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(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTTTCTGCGTAGTCAGCGTTT	0.413																																																0													203	197	199					19																	57647366		2203	4300	6503	SO:0001819	synonymous_variant	114026			AF365931	CCDS33125.1	19q13.4	2013-01-08				ENSG00000141946		"Zinc fingers, C2H2-type", "-"	16366	protein-coding gene	gene with protein product							Standard	NM_052882		Approved	ZNF657	uc002qnz.1	Q96PE6		ENST00000269834.1:c.339T>C	19.37:g.57647366A>G			Q14CA6	Silent	SNP	ENST00000269834.1	37	CCDS33125.1																																																																																				0.413	ZIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465078.1			G	57647366	A	G	57647366	2	3	734	1	0	0	0	0	0	0	0	1	17690	407	15	3		3	ZIM3	19	57647366	Silent	SNP	A	TCGA-KN-8428-01A-11D-2310-10	471788	57647366	1481617	986	42405											
ZNF805	390980	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	19	57765510	57765510	+	Silent	SNP	T	T	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:57765510T>G	ENST00000414468.2	+	4	1323	c.1323T>G	c.(1321-1323)acT>acG	p.T441T	ZNF805_ENST00000535550.1_Silent_p.T308T|ZNF805_ENST00000354309.4_Silent_p.T308T	NM_001023563.3	NP_001018857.2	Q5CZA5	ZN805_HUMAN	zinc finger protein 805	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)			breast(1)|endometrium(3)|kidney(3)|lung(1)|stomach(1)	9						ACTGCTCTACTTTCATCTTGC	0.498																																																0													48	49	49					19																	57765510		692	1591	2283	SO:0001819	synonymous_variant	390980			AF024708	CCDS46207.1, CCDS46208.1	19q13.43	2013-01-08			ENSG00000204524	ENSG00000204524		"Zinc fingers, C2H2-type", "-"	23272	protein-coding gene	gene with protein product							Standard	NM_001023563		Approved		uc010ygt.2	Q5CZA5		ENST00000414468.2:c.1323T>G	19.37:g.57765510T>G			B4DNM5	Silent	SNP	ENST00000414468.2	37	CCDS46207.1																																																																																				0.498	ZNF805-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465722.1	NM_001023563		G	57765510	T	G	57765510	2	3	734	1	0	0	0	0	0	0	0	1	18177	1596	56	5		5	ZNF805	19	57765510	Silent	SNP	T	TCGA-KN-8428-01A-11D-2310-10	118144	57765510	1363473	987	42406											
ZNF773	374928	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	58017797	58017797	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:58017797G>A	ENST00000282292.4	+	4	474	c.334G>A	c.(334-336)Gtt>Att	p.V112I	ZNF773_ENST00000598770.1_Missense_Mutation_p.V111I|ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000593916.1_Intron	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	112					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)		CAGTTCAAACGTTCAGCAACA	0.488																																																0													94	96	95					19																	58017797		2203	4300	6503	SO:0001583	missense	374928			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.334G>A	19.37:g.58017797G>A	ENSP00000282292:p.Val112Ile		Q96DL8	Missense_Mutation	SNP	ENST00000282292.4	37	CCDS33134.1	.	.	.	.	.	.	.	.	.	.	G	5.699	0.313462	0.10789	.	.	ENSG00000152439	ENST00000282292	T	0.05855	3.38	1.25	-1.2	0.09554	.	.	.	.	.	T	0.02767	0.0083	N	0.11560	0.145	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.04013	0.001;0.0	T	0.44112	-0.9349	9	0.49607	T	0.09	.	0.4362	0.00479	0.2328:0.3037:0.2641:0.1993	.	111;112	Q6PK81-2;Q6PK81	.;ZN773_HUMAN	I	112	ENSP00000282292:V112I	ENSP00000282292:V112I	V	+	1	0	ZNF773	62709609	0.000000	0.05858	0.001000	0.08648	0.366000	0.29705	-1.381000	0.02549	-0.307000	0.08804	0.313000	0.20887	GTT		0.488	ZNF773-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466475.1	NM_198542		A	58017797	G	A	58017797	3	1	734	1	0	0	0	0	1	0	0	0	18151	1145	40	1	348	1	ZNF773	19	58017797	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	252287	58017797	1111186	988	42407											
ZNF776	284309	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	19	58264681	58264681	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:58264681C>T	ENST00000317178.5	+	3	446	c.183C>T	c.(181-183)gaC>gaT	p.D61D	ZNF776_ENST00000431353.1_3'UTR|AC003006.7_ENST00000594684.1_Silent_p.D61D	NM_173632.3	NP_775903.3	Q68DI1	ZN776_HUMAN	zinc finger protein 776	61	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)			cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)		GAGCAAAAGACGAGACACCTT	0.443																																																0													122	124	123					19																	58264681		2203	4300	6503	SO:0001819	synonymous_variant	284309			AK095607	CCDS12962.2	19q13.43	2013-01-08			ENSG00000152443	ENSG00000152443		"Zinc fingers, C2H2-type", "-"	26765	protein-coding gene	gene with protein product							Standard	NM_173632		Approved	FLJ38288		Q68DI1	OTTHUMG00000156943	ENST00000317178.5:c.183C>T	19.37:g.58264681C>T			Q6ZS36|Q8N968	Silent	SNP	ENST00000317178.5	37	CCDS12962.2																																																																																				0.443	ZNF776-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346722.2	NM_173632		T	58264681	C	T	58264681	2	4	734	1	0	0	0	0	0	0	0	1	18154	535	19	1		1	ZNF776	19	58264681	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	246884	58264681	864302	989	42408											
RBCK1	10616	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	20	398443	398443	+	Missense_Mutation	SNP	A	A	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:398443A>T	ENST00000356286.5	+	4	1034	c.329A>T	c.(328-330)gAc>gTc	p.D110V	RBCK1_ENST00000353660.3_Missense_Mutation_p.D68V|RBCK1_ENST00000382181.2_5'UTR	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing 1	110	Interaction with IRF3.|Interaction with RNF31.|Interaction with TAB2.|Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				negative regulation of necroptotic process (GO:0060546)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|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 NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				CTGGCACGAGACCAGGAGACC	0.612																																																0													48	41	43					20																	398443		2203	4300	6503	SO:0001583	missense	10616			U67322	CCDS12998.1, CCDS13000.2	20p13	2014-09-17	2006-06-28	2006-06-28	ENSG00000125826	ENSG00000125826		"RING-type (C3HC4) zinc fingers", "Zinc fingers, RAN-binding domain containing"	15864	protein-coding gene	gene with protein product	"heme-oxidized IRP2 ubiquitin ligase 1"	610924	"chromosome 20 open reading frame 18"	C20orf18			Standard	NM_031229		Approved	RBCK2, XAP4, RNF54, ZRANB4, UBCE7IP3, HOIL1	uc002wdp.4	Q9BYM8	OTTHUMG00000031634	ENST00000356286.5:c.329A>T	20.37:g.398443A>T	ENSP00000348632:p.Asp110Val		O95623|Q86SL2|Q96BS3|Q9BYM9	Missense_Mutation	SNP	ENST00000356286.5	37	CCDS13000.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.8|23.8	4.453339|4.453339	0.84209|0.84209	.|.	.|.	ENSG00000125826|ENSG00000125826	ENST00000411647;ENST00000356286;ENST00000441733;ENST00000353660;ENST00000400244;ENST00000400243|ENST00000414880	T;T;T;T|.	0.22945|.	1.93;1.93;1.93;1.93|.	4.77|4.77	4.77|4.77	0.60923|0.60923	Ubiquitin supergroup (1);|.	0.051204|.	0.85682|.	D|.	0.000000|.	T|T	0.71634|0.71634	0.3363|0.3363	M|M	0.73217|0.73217	2.22|2.22	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;0.997|.	D;D;D|.	0.91635|.	0.999;0.986;0.925|.	T|T	0.72388|0.72388	-0.4309|-0.4309	10|5	0.87932|.	D|.	0|.	-22.682|-22.682	12.5534|12.5534	0.56240|0.56240	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	100;68;110|.	B4E0F5;Q9BYM8-3;Q9BYM8|.	.;.;HOIL1_HUMAN|.	V|S	110;110;109;68;110;151|143	ENSP00000415080:D110V;ENSP00000348632:D110V;ENSP00000387799:D109V;ENSP00000254960:D68V|.	ENSP00000254960:D68V|.	D|T	+|+	2|1	0|0	RBCK1|RBCK1	346443|346443	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	5.134000|5.134000	0.64770|0.64770	2.131000|2.131000	0.65755|0.65755	0.374000|0.374000	0.22700|0.22700	GAC|ACC		0.612	RBCK1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077461.3	NM_031229		T	398443	A	T	398443	3	4	734	1	0	0	0	0	1	0	0	0	13113	275	10	5	362	5	RBCK1	20	398443	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10		398443	62627077	990	42409											
TBC1D20	128637	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	20	420958	420958	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:420958G>A	ENST00000354200.4	-	6	849	c.702C>T	c.(700-702)caC>caT	p.H234H	TBC1D20_ENST00000461188.1_5'UTR	NM_144628.2	NP_653229.1	Q96BZ9	TBC20_HUMAN	TBC1 domain family, member 20	234	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				acrosome assembly (GO:0001675)|cargo loading into COPII-coated vesicle (GO:0090110)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|lens fiber cell morphogenesis (GO:0070309)|lipid particle organization (GO:0034389)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|seminiferous tubule development (GO:0072520)|virion assembly (GO:0019068)	endoplasmic reticulum membrane (GO:0005789)|integral component of Golgi membrane (GO:0030173)|nuclear membrane (GO:0031965)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(17;0.228)|Breast(17;0.231)				ACCGCACGACGTGCCTGAAGT	0.552																																																0													111	89	96					20																	420958		2203	4300	6503	SO:0001819	synonymous_variant	128637			AK055573	CCDS13002.1	20p13	2013-07-10	2005-01-05	2005-01-05	ENSG00000125875	ENSG00000125875			16133	protein-coding gene	gene with protein product		611663	"chromosome 20 open reading frame 140"	C20orf140		17901050	Standard	XM_005260661		Approved	dJ852M4.2	uc002wds.3	Q96BZ9	OTTHUMG00000031637	ENST00000354200.4:c.702C>T	20.37:g.420958G>A			A8K6I3|B9A6M1|Q5JWQ7|Q6ZSY8|Q96NE1|Q9BYM7|Q9H140	Silent	SNP	ENST00000354200.4	37	CCDS13002.1																																																																																				0.552	TBC1D20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251397.2	NM_144628		A	420958	G	A	420958	2	1	734	1	0	0	0	0	0	0	0	1	15614	1136	40	1		1	TBC1D20	20	420958	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	22515	420958	62604562	991	42410											
FAM110A	83541	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	20	826273	826273	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:826273C>T	ENST00000304189.2	+	3	1207	c.826C>T	c.(826-828)Cgc>Tgc	p.R276C	FAM110A_ENST00000381941.3_Missense_Mutation_p.R276C|FAM110A_ENST00000541082.1_Missense_Mutation_p.R276C|FAM110A_ENST00000381939.1_Missense_Mutation_p.R276C|FAM110A_ENST00000246100.3_Missense_Mutation_p.R276C			Q9BQ89	F110A_HUMAN	family with sequence similarity 110, member A	276						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|lung(2)	3						GCGCAATGCCCGCGTGATCAA	0.657																																																0													54	63	60					20																	826273		2203	4300	6503	SO:0001583	missense	83541			BC012800	CCDS13008.1	20p13	2007-06-21	2007-03-21	2007-03-21	ENSG00000125898	ENSG00000125898			16188	protein-coding gene	gene with protein product		611393	"chromosome 20 open reading frame 55"	C20orf55		17499476	Standard	NM_001042353		Approved	bA371L19.3	uc002wef.1	Q9BQ89	OTTHUMG00000031649	ENST00000304189.2:c.826C>T	20.37:g.826273C>T	ENSP00000354163:p.Arg276Cys		D3DVW2|Q5R1M7	Missense_Mutation	SNP	ENST00000304189.2	37	CCDS13008.1	.	.	.	.	.	.	.	.	.	.	.	23.2	4.389789	0.82902	.	.	ENSG00000125898	ENST00000381941;ENST00000304189;ENST00000381939;ENST00000246100;ENST00000541082	T;T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6;-0.6	4.38	4.38	0.52667	.	0.000000	0.64402	D	0.000006	D	0.84745	0.5540	M	0.83384	2.64	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	D	0.87576	0.2481	10	0.87932	D	0	-3.4911	15.6478	0.77068	0.0:1.0:0.0:0.0	.	276	Q9BQ89	F110A_HUMAN	C	276	ENSP00000371367:R276C;ENSP00000354163:R276C;ENSP00000371365:R276C;ENSP00000246100:R276C;ENSP00000445228:R276C	ENSP00000246100:R276C	R	+	1	0	FAM110A	774273	0.955000	0.32602	1.000000	0.80357	0.987000	0.75469	1.451000	0.35145	2.269000	0.75478	0.484000	0.47621	CGC		0.657	FAM110A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077489.1	NM_031424		T	826273	C	T	826273	3	4	734	1	0	0	0	0	1	0	0	0	5398	652	23	1	828	1	FAM110A	20	826273	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	405315	826273	62199247	992	42411											
SNRPB	6628	broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	2442418	2442418	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:2442418C>T	ENST00000438552.2	-	7	869	c.707G>A	c.(706-708)cGc>cAc	p.R236H	SNRPB_ENST00000381342.2_3'UTR|SNORD119_ENST00000515997.1_RNA	NM_198216.1	NP_937859.1	P14678	RSMB_HUMAN	small nuclear ribonucleoprotein polypeptides B and B1	236	Repeat-rich region.				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)	p.R236H(1)		kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						CCTTGGTGGGCGCATTCCCGG	0.542																																																1	Substitution - Missense(1)	kidney(1)											47	51	50					20																	2442418		2203	4300	6503	SO:0001583	missense	6628				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.707G>A	20.37:g.2442418C>T	ENSP00000412566:p.Arg236His		Q15490|Q6IB35|Q9UIS5	Missense_Mutation	SNP	ENST00000438552.2	37	CCDS13026.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.892568	0.33442	.	.	ENSG00000125835	ENST00000438552;ENST00000303103	T	0.44881	0.91	4.7	1.51	0.23008	.	0.298090	0.36338	N	0.002646	T	0.26195	0.0639	N	0.24115	0.695	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.06534	-1.0821	10	0.87932	D	0	.	7.9054	0.29759	0.0:0.7006:0.0:0.2994	.	236	P14678	RSMB_HUMAN	H	236;284	ENSP00000412566:R236H	ENSP00000303591:R284H	R	-	2	0	SNRPB	2390418	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.285000	0.33261	0.234000	0.21139	0.561000	0.74099	CGC		0.542	SNRPB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077585.2			T	2442418	C	T	2442418	3	4	734	1	0	0	0	0	1	0	0	0	14867	768	27	1	19	1	SNRPB	20	2442418	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1616145	2442418	60583102	993	42412											
ZNF343	79175	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	20	2464066	2464066	+	Missense_Mutation	SNP	G	G	A	rs139834625	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:2464066G>A	ENST00000278772.4	-	6	2028	c.1541C>T	c.(1540-1542)aCg>aTg	p.T514M	RP4-734P14.4_ENST00000461548.1_Intron	NM_001282495.1|NM_001282496.1|NM_024325.4	NP_001269424.1|NP_001269425.1|NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	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)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						ATTTGAGTGCGTCCTCTGGTG	0.493													G|||	24	0.00479233	0.0166	0.0014	5008	,	,		21849	0.0		0.001	False		,,,				2504	0.0															0								G	MET/THR	37,4369	42.3+/-75.8	0,37,2166	132	121	125		1541	-4.2	0	20	dbSNP_134	125	0,8600		0,0,4300	yes	missense	ZNF343	NM_024325.4	81	0,37,6466	AA,AG,GG		0.0,0.8398,0.2845	probably-damaging	514/600	2464066	37,12969	2203	4300	6503	SO:0001583	missense	79175			AK096911	CCDS13028.1, CCDS74692.1, CCDS74693.1, CCDS74694.1	20p13	2013-01-08			ENSG00000088876	ENSG00000088876		"Zinc fingers, C2H2-type", "-"	16017	protein-coding gene	gene with protein product							Standard	NM_001282498		Approved	MGC10715	uc002wge.1	Q6P1L6	OTTHUMG00000031701	ENST00000278772.4:c.1541C>T	20.37:g.2464066G>A	ENSP00000278772:p.Thr514Met		Q5JXU8|Q5JXU9|Q8N8F2|Q96EX8|Q96NA5|Q9BQB0	Missense_Mutation	SNP	ENST00000278772.4	37	CCDS13028.1	8	0.003663003663003663	7	0.014227642276422764	0	0.0	0	0.0	1	0.0013192612137203166	G	11.96	1.794078	0.31777	0.008398	0.0	ENSG00000088876	ENST00000278772	T	0.54279	0.58	2.57	-4.18	0.03846	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.53384	0.1793	L	0.53561	1.675	0.09310	N	1	D	0.89917	1.0	D	0.77557	0.99	T	0.57236	-0.7846	9	0.59425	D	0.04	.	9.4035	0.38447	0.7197:0.0:0.2803:0.0	.	514	Q6P1L6	ZN343_HUMAN	M	514	ENSP00000278772:T514M	ENSP00000278772:T514M	T	-	2	0	ZNF343	2412066	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.510000	0.06328	-1.297000	0.02351	-0.216000	0.12614	ACG		0.493	ZNF343-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077617.1	NM_024325		A	2464066	G	A	2464066	3	1	734	1	0	0	0	0	1	0	0	0	17863	1145	40	1	262	1	ZNF343	20	2464066	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	21648	2464066	60561454	994	42413											
TMC2	117532	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	20	2560637	2560637	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:2560637C>T	ENST00000358864.1	+	7	784	c.769C>T	c.(769-771)Cga>Tga	p.R257*		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	257					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						CATCTTTCTCCGATGGATGTA	0.398																																																0													243	210	221					20																	2560637		2203	4300	6503	SO:0001587	stop_gained	117532			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.769C>T	20.37:g.2560637C>T	ENSP00000351732:p.Arg257*		Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Nonsense_Mutation	SNP	ENST00000358864.1	37	CCDS13029.2	.	.	.	.	.	.	.	.	.	.	C	37	6.154665	0.97329	.	.	ENSG00000149488	ENST00000358864	.	.	.	5.12	4.14	0.48551	.	0.139429	0.47852	D	0.000214	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.4483	10.8042	0.46507	0.3434:0.6566:0.0:0.0	.	.	.	.	X	257	.	ENSP00000351732:R257X	R	+	1	2	TMC2	2508637	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.957000	0.49137	1.232000	0.43678	0.563000	0.77884	CGA		0.398	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2			T	2560637	C	T	2560637	4	4	734	1	0	0	0	0	0	1	0	0	15990	644	23	1	795	1	TMC2	20	2560637	Nonsense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	96571	2560637	60464883	995	42414											
PRNP	5621	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	20	4680473	4680473	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:4680473G>A	ENST00000379440.4	+	2	894	c.607G>A	c.(607-609)Gtt>Att	p.V203I	PRNP_ENST00000430350.2_Missense_Mutation_p.V203I	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)				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14						CGAGACCGACGTTAAGATGAT	0.522																																																0			GRCh37	CM001314	PRNP	M							176	151	159					20																	4680473		2203	4300	6503	SO:0001583	missense	5621			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.607G>A	20.37:g.4680473G>A	ENSP00000368752:p.Val203Ile			Missense_Mutation	SNP	ENST00000379440.4	37	CCDS13080.1	.	.	.	.	.	.	.	.	.	.	G	0.827	-0.746602	0.03065	.	.	ENSG00000171867	ENST00000379440;ENST00000430350;ENST00000424424;ENST00000444805;ENST00000457586	D;D;D;D	0.92048	-2.96;-2.96;-2.96;-2.36	5.39	-4.2	0.03823	Prion/Doppel protein, beta-ribbon domain (4);	0.953375	0.08715	N	0.904371	T	0.80819	0.4696	N	0.20807	0.61	0.09310	N	1	B;B;B	0.25521	0.002;0.002;0.128	B;B;B	0.19148	0.003;0.002;0.024	T	0.67933	-0.5542	10	0.02654	T	1	-0.7995	11.8224	0.52247	0.68:0.0:0.32:0.0	.	203;203;235	B2NI04;P04156;O75942	.;PRIO_HUMAN;.	I	203;203;203;142;203	ENSP00000368752:V203I;ENSP00000399376:V203I;ENSP00000411599:V203I;ENSP00000415284:V203I	ENSP00000368752:V203I	V	+	1	0	PRNP	4628473	0.000000	0.05858	0.041000	0.18516	0.863000	0.49368	-0.472000	0.06623	-0.660000	0.05352	-0.136000	0.14681	GTT		0.522	PRNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077820.2	NM_000311		A	4680473	G	A	4680473	3	1	734	1	0	0	0	0	1	0	0	0	12549	1145	40	1	609	1	PRNP	20	4680473	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	2119836	4680473	58345047	996	42415											
C20orf196	149840	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	20	5843951	5843951	+	Missense_Mutation	SNP	C	C	T	rs140278441		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:5843951C>T	ENST00000303142.6	+	3	547	c.460C>T	c.(460-462)Cgg>Tgg	p.R154W		NM_152504.2	NP_689717.2	Q8IYI0	CT196_HUMAN	chromosome 20 open reading frame 196	154										endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	9						GATCTTCAACCGGGACGGCTG	0.522																																																0								C	TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	58	57	57		460	3.9	1	20	dbSNP_134	57	0,8600		0,0,4300	no	missense	C20orf196	NM_152504.2	101	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	154/206	5843951	2,13004	2203	4300	6503	SO:0001583	missense	149840			AK057796	CCDS13091.1	20p12.3	2006-07-07			ENSG00000171984	ENSG00000171984			26318	protein-coding gene	gene with protein product						12477932	Standard	NM_152504		Approved	FLJ25067	uc002wmf.3	Q8IYI0	OTTHUMG00000031813	ENST00000303142.6:c.460C>T	20.37:g.5843951C>T	ENSP00000305875:p.Arg154Trp		A8K9J3|Q5TGA9|Q96LU1	Missense_Mutation	SNP	ENST00000303142.6	37	CCDS13091.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.157705	0.38119	4.54E-4	0.0	ENSG00000171984	ENST00000303142	T	0.55588	0.51	5.86	3.92	0.45320	.	0.356526	0.24113	N	0.041425	T	0.36082	0.0954	L	0.28115	0.83	0.36750	D	0.88268	B	0.26876	0.162	B	0.20384	0.029	T	0.34775	-0.9815	10	0.54805	T	0.06	-11.3596	7.7804	0.29062	0.16:0.7582:0.0:0.0817	.	154	Q8IYI0	CT196_HUMAN	W	154	ENSP00000305875:R154W	ENSP00000305875:R154W	R	+	1	2	C20orf196	5791951	0.902000	0.30710	0.971000	0.41717	0.576000	0.36127	0.336000	0.19823	0.813000	0.34350	-0.899000	0.02877	CGG		0.522	C20orf196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077882.2	NM_152504		T	5843951	C	T	5843951	3	4	734	1	0	0	0	0	1	0	0	0	2103	643	23	1	466	1	C20orf196	20	5843951	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1163478	5843951	57181569	997	42416											
MACROD2	140733	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	20	16021924	16021924	+	Splice_Site	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:16021924G>A	ENST00000310348.4	+	16	1231		c.e16+1		MACROD2_ENST00000402914.1_Splice_Site|MACROD2_ENST00000407045.3_Splice_Site|MACROD2_ENST00000217246.4_Splice_Site|MACROD2_ENST00000378058.3_Splice_Site			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2						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)				GGTCCTGATGGTAAGGTTCTG	0.443																																																0													65	65	65					20																	16021924		2203	4299	6502	SO:0001630	splice_region_variant	140733			BC101218	CCDS13120.2, CCDS33443.1	20p12.1	2011-04-28	2007-07-24	2007-07-24	ENSG00000172264	ENSG00000172264			16126	protein-coding gene	gene with protein product		611567	"chromosome 20 open reading frame 133"	C20orf133			Standard	NM_080676		Approved	dJ631M13.5	uc002wot.3	A1Z1Q3	OTTHUMG00000031919	ENST00000310348.4:c.1231+1G>A	20.37:g.16021924G>A			A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	Splice_Site	SNP	ENST00000310348.4	37	CCDS13120.2	.	.	.	.	.	.	.	.	.	.	G	12.40	1.926267	0.34002	.	.	ENSG00000172264	ENST00000217246;ENST00000310348;ENST00000402914;ENST00000378058;ENST00000407045	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3828	0.83481	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MACROD2	15969924	1.000000	0.71417	0.998000	0.56505	0.191000	0.23601	5.251000	0.65438	2.679000	0.91253	0.655000	0.94253	.		0.443	MACROD2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_080676	Intron	A	16021924	G	A	16021924	5	1	734	1	0	0	0	0	0	0	1	0	9148	1275	44	2	1294	2	MACROD2	20	16021924	Splice_Site	SNP	G	TCGA-KN-8428-01A-11D-2310-10	10177973	16021924	47003596	998	42417											
OVOL2	58495	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	20	18022295	18022295	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:18022295G>A	ENST00000278780.6	-	3	636	c.394C>T	c.(394-396)Cgc>Tgc	p.R132C	OVOL2_ENST00000483661.1_5'UTR	NM_021220.2	NP_067043.2	Q9BRP0	OVOL2_HUMAN	ovo-like zinc finger 2	132					angiogenesis (GO:0001525)|dorsal/ventral pattern formation (GO:0009953)|embryonic digestive tract morphogenesis (GO:0048557)|endocardium formation (GO:0060214)|heart looping (GO:0001947)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|neural fold formation (GO:0001842)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of keratinocyte proliferation (GO:0010837)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)	6						TTCAGCATGCGCTGCAGACGG	0.597																																																0													126	82	97					20																	18022295		2203	4300	6503	SO:0001583	missense	58495			AK022284	CCDS13132.1	20p11.23	2013-10-17	2013-10-17	2005-05-31	ENSG00000125850	ENSG00000125850		"Zinc fingers, C2H2-type"	15804	protein-coding gene	gene with protein product			"zinc finger protein 339", "ovo-like 2 (Drosophila)"	ZNF339			Standard	NM_021220		Approved	bA504H3.3, HOVO2	uc002wqi.1	Q9BRP0	OTTHUMG00000031960	ENST00000278780.6:c.394C>T	20.37:g.18022295G>A	ENSP00000278780:p.Arg132Cys		Q5T8B4|Q9BX22|Q9HA54|Q9Y4M0	Missense_Mutation	SNP	ENST00000278780.6	37	CCDS13132.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.645835	0.87958	.	.	ENSG00000125850	ENST00000278780	T	0.76709	-1.04	5.57	4.59	0.56863	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	0.82416	0.5032	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.83289	-0.0034	10	0.56958	D	0.05	-48.5453	14.8485	0.70277	0.0:0.0:0.7425:0.2575	.	132	Q9BRP0	OVOL2_HUMAN	C	132	ENSP00000278780:R132C	ENSP00000278780:R132C	R	-	1	0	OVOL2	17970295	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.724000	0.61972	2.624000	0.88883	0.655000	0.94253	CGC		0.597	OVOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078148.5	NM_021220		A	18022295	G	A	18022295	3	1	734	1	0	0	0	0	1	0	0	0	11329	1087	38	1	441	1	OVOL2	20	18022295	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	2000371	18022295	45003225	999	42418											
ZNF133	7692	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	20	18287023	18287023	+	Missense_Mutation	SNP	C	C	T	rs149645929		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:18287023C>T	ENST00000316358.4	+	3	300	c.203C>T	c.(202-204)cCg>cTg	p.P68L	ZNF133_ENST00000535822.1_5'UTR|ZNF133_ENST00000402618.2_5'UTR|ZNF133_ENST00000401790.1_Missense_Mutation_p.P68L|ZNF133_ENST00000396026.3_Missense_Mutation_p.P71L|ZNF133_ENST00000538547.1_Intron|ZNF133_ENST00000377671.3_Missense_Mutation_p.P68L	NM_001282998.1|NM_001282999.1|NM_001283000.1|NM_001283001.1|NM_001283008.1	NP_001269927.1|NP_001269928.1|NP_001269929.1|NP_001269930.1|NP_001269937.1	P52736	ZN133_HUMAN	zinc finger protein 133	68	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						AAATGTTCACCGGCAACCTGT	0.507																																																0								C	LEU/PRO,LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	51	50	51		203,203	-3	0	20	dbSNP_134	51	0,8600		0,0,4300	no	missense,missense	ZNF133	NM_001083330.1,NM_003434.4	98,98	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	68/654,68/654	18287023	1,13005	2203	4300	6503	SO:0001583	missense	7692			AK123005	CCDS13134.1, CCDS63234.1, CCDS63235.1, CCDS74703.1, CCDS74704.1	20p11.23	2013-01-08	2006-06-13		ENSG00000125846	ENSG00000125846		"Zinc fingers, C2H2-type", "-"	12917	protein-coding gene	gene with protein product		604075	"zinc finger protein 150 (pHZ-66)", "zinc finger protein 133 (clone pHZ-13)"	ZNF150		7557990, 7649249	Standard	XM_005260819		Approved	pHZ-13, pHZ-66	uc010gcs.3	P52736	OTTHUMG00000031965	ENST00000316358.4:c.203C>T	20.37:g.18287023C>T	ENSP00000346090:p.Pro68Leu		A8K5S4|B4DHU7|B4DIB8|B7ZAS1|F5H289|J3KQ11|J3KQJ0|Q53XU1|Q5JXV8|Q9BUV2|Q9H443	Missense_Mutation	SNP	ENST00000316358.4	37		.	.	.	.	.	.	.	.	.	.	C	3.466	-0.108858	0.06924	2.27E-4	0.0	ENSG00000125846	ENST00000377671;ENST00000360010;ENST00000396026;ENST00000401790;ENST00000434018;ENST00000316358;ENST00000425686	T;T;T;T;T;T;T	0.05996	3.39;5.52;3.36;3.36;5.59;3.36;5.58	4.49	-2.96	0.05547	Krueppel-associated box (1);	0.996321	0.08125	N	0.994047	T	0.02807	0.0084	N	0.13299	0.325	0.09310	N	0.999999	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.06405	0.001;0.001;0.002	T	0.48198	-0.9056	10	0.10636	T	0.68	-1.5162	3.469	0.07561	0.4587:0.2608:0.0:0.2805	.	71;68;68	B4DHU7;P52736;P52736-2	.;ZN133_HUMAN;.	L	68;68;71;68;68;68;68	ENSP00000366899:P68L;ENSP00000353105:P68L;ENSP00000400897:P71L;ENSP00000383945:P68L;ENSP00000403835:P68L;ENSP00000346090:P68L;ENSP00000406638:P68L	ENSP00000346090:P68L	P	+	2	0	ZNF133	18235023	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-0.090000	0.11163	-0.266000	0.09339	-0.136000	0.14681	CCG		0.507	ZNF133-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000127616.1	NM_003434		T	18287023	C	T	18287023	3	4	734	1	0	0	0	0	1	0	0	0	17728	652	23	1	209	1	ZNF133	20	18287023	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	264728	18287023	44738497	1000	42419											
RALGAPA2	57186	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	20	20475759	20475759	+	Splice_Site	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:20475759A>G	ENST00000202677.7	-	36	5375		c.e36+1			NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)						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						ATGAAAACGTACCTCAGGTTT	0.378																																																0													135	130	131					20																	20475759		1904	4129	6033	SO:0001630	splice_region_variant	57186			AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 74"	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.5367+1T>C	20.37:g.20475759A>G			Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Splice_Site	SNP	ENST00000202677.7	37	CCDS46584.1	.	.	.	.	.	.	.	.	.	.	A	17.22	3.333165	0.60853	.	.	ENSG00000188559	ENST00000417022;ENST00000430436;ENST00000202677;ENST00000427175	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7051	0.77573	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RALGAPA2	20423759	1.000000	0.71417	0.985000	0.45067	0.556000	0.35491	9.273000	0.95719	2.106000	0.64143	0.460000	0.39030	.		0.378	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343	Intron	G	20475759	A	G	20475759	5	3	734	1	0	0	0	0	0	0	1	0	13020	405	14	3	268	3	RALGAPA2	20	20475759	Splice_Site	SNP	A	TCGA-KN-8428-01A-11D-2310-10	2188736	20475759	42549761	1001	42420											
NKX2-4	644524	hgsc.bcm.edu;ucsc.edu	37	20	21376975	21376975	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:21376975G>A	ENST00000351817.4	-	2	1267	c.639C>T	c.(637-639)taC>taT	p.Y213Y	RP11-227D2.3_ENST00000419666.2_RNA|RP11-227D2.3_ENST00000552439.1_RNA	NM_033176.1	NP_149416.1	Q9H2Z4	NKX24_HUMAN	NK2 homeobox 4	213					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			lung(2)|upper_aerodigestive_tract(1)	3						GCGCCGACAGGTACTTCTGCT	0.667																																																0													30	31	31					20																	21376975		2202	4299	6501	SO:0001819	synonymous_variant	644524				CCDS42855.1	20p11.22	2012-03-09	2007-07-09	2002-10-04	ENSG00000125816	ENSG00000125816		"Homeoboxes / ANTP class : NKL subclass"	7837	protein-coding gene	gene with protein product		607808	"NK-2 (Drosophila) homolog D", "NK2 transcription factor related, locus 4 (Drosophila)"	NKX2D		1346742, 10818213	Standard	NM_033176		Approved	NKX2.4	uc010gcz.3	Q9H2Z4	OTTHUMG00000032022	ENST00000351817.4:c.639C>T	20.37:g.21376975G>A			Q5VZV8	Silent	SNP	ENST00000351817.4	37	CCDS42855.1																																																																																				0.667	NKX2-4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078270.2			A	21376975	G	A	21376975	2	1	734	1	0	0	0	0	0	0	0	1	10454	1256	44	2		2	NKX2-4	20	21376975	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	901216	21376975	41648545	1002	42421											
CST5	1473	ucsc.edu;mdanderson.org;bcgsc.ca	37	20	23858242	23858242	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:23858242A>G	ENST00000304710.4	-	2	318	c.245T>C	c.(244-246)gTg>gCg	p.V82A		NM_001900.4	NP_001891.2	P28325	CYTD_HUMAN	cystatin D	82					negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11						GTAGTAGTTCACCCCACCCAC	0.532																																																0													199	147	165					20																	23858242		2203	4300	6503	SO:0001583	missense	1473				CCDS13162.1	20p11.21	2008-04-15			ENSG00000170367	ENSG00000170367			2477	protein-coding gene	gene with protein product		123858				1939105	Standard	NM_001900		Approved		uc002wtr.1	P28325	OTTHUMG00000032089	ENST00000304710.4:c.245T>C	20.37:g.23858242A>G	ENSP00000307132:p.Val82Ala		Q5JRF5|Q9UCA0	Missense_Mutation	SNP	ENST00000304710.4	37	CCDS13162.1	.	.	.	.	.	.	.	.	.	.	A	11.84	1.758309	0.31137	.	.	ENSG00000170367	ENST00000304710	T	0.27402	1.67	2.56	1.43	0.22495	Proteinase inhibitor I25, cystatin, conserved site (1);Proteinase inhibitor I25, cystatin (2);	1.558470	0.04237	U	0.336299	T	0.50377	0.1612	M	0.77103	2.36	0.09310	N	1	P	0.52692	0.955	P	0.61533	0.89	T	0.12785	-1.0534	10	0.30854	T	0.27	.	4.3883	0.11328	0.8291:0.0:0.1709:0.0	.	82	P28325	CYTD_HUMAN	A	82	ENSP00000307132:V82A	ENSP00000307132:V82A	V	-	2	0	CST5	23806242	0.030000	0.19436	0.050000	0.19076	0.025000	0.11179	0.314000	0.19432	0.230000	0.21059	-0.464000	0.05259	GTG		0.532	CST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078355.2	NM_001900		G	23858242	A	G	23858242	3	3	734	1	0	0	0	0	1	0	0	0	3977	159	6	3	191	3	CST5	20	23858242	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	2481267	23858242	39167278	1003	42422											
TMEM90B	79953	broad.mit.edu;mdanderson.org	37	20	24524119	24524119	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:24524119C>T	ENST00000376862.3	+	2	1019	c.386C>T	c.(385-387)cCg>cTg	p.P129L		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	129					intracellular protein transport (GO:0006886)|positive regulation of synapse assembly (GO:0051965)|response to biotic stimulus (GO:0009607)|synaptic vesicle clustering (GO:0097091)	cell body (GO:0044297)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	glutamate receptor binding (GO:0035254)|protein homodimerization activity (GO:0042803)	p.P129L(1)		breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						CTCGAGTACCCGGATGGGAAG	0.607																																																1	Substitution - Missense(1)	large_intestine(1)											81	84	83					20																	24524119		2203	4300	6503	SO:0001583	missense	79953			AK024282	CCDS13164.1	20p11.21	2011-06-30	2011-06-30	2011-06-30	ENSG00000101463	ENSG00000101463			15885	protein-coding gene	gene with protein product	"interferon induced transmembrane protein domain containing 5", "synapse differentiation induced gene 1"	614311	"chromosome 20 open reading frame 39", "transmembrane protein 90B"	C20orf39, TMEM90B		20152115	Standard	NM_024893		Approved	FLJ14220, IFITMD5, SynDIG1	uc002wtw.1	Q9H7V2	OTTHUMG00000032104	ENST00000376862.3:c.386C>T	20.37:g.24524119C>T	ENSP00000366058:p.Pro129Leu		Q6IA30|Q9H514	Missense_Mutation	SNP	ENST00000376862.3	37	CCDS13164.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.330865	0.60853	.	.	ENSG00000101463	ENST00000376862	D	0.90444	-2.67	5.47	5.47	0.80525	.	0.138225	0.51477	D	0.000099	D	0.86485	0.5944	M	0.62723	1.935	0.80722	D	1	D	0.54772	0.968	B	0.28385	0.089	D	0.89436	0.3720	10	0.87932	D	0	-33.8773	16.8193	0.85741	0.0:1.0:0.0:0.0	.	129	Q9H7V2	SYNG1_HUMAN	L	129	ENSP00000366058:P129L	ENSP00000366058:P129L	P	+	2	0	SYNDIG1	24472119	0.989000	0.36119	0.975000	0.42487	0.689000	0.40095	7.082000	0.76851	2.582000	0.87167	0.561000	0.74099	CCG		0.607	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078376.1	NM_024893		T	24524119	C	T	24524119	3	4	734	1	0	0	0	0	1	0	0	0	16224	652	23	1	388	1	TMEM90B	20	24524119	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	665877	24524119	38501401	1004	42423											
COX4I2	84701	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	20	30231238	30231238	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:30231238G>A	ENST00000376075.3	+	4	354	c.279G>A	c.(277-279)gcG>gcA	p.A93A	COX4I2_ENST00000490030.1_Intron	NM_032609.2	NP_115998.2	Q96KJ9	COX42_HUMAN	cytochrome c oxidase subunit IV isoform 2 (lung)	93					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)			AGACCTTTGCGGAGATGAACC	0.567																																																0													187	151	163					20																	30231238		2203	4300	6503	SO:0001819	synonymous_variant	84701			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.279G>A	20.37:g.30231238G>A			Q6GTF4|Q9H0Z4	Silent	SNP	ENST00000376075.3	37	CCDS13187.1																																																																																				0.567	COX4I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078548.1	NM_032609		A	30231238	G	A	30231238	2	1	734	1	0	0	0	0	0	0	0	1	3772	1103	39	1		1	COX4I2	20	30231238	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	5707119	30231238	32794282	1005	42424											
CEP250	11190	ucsc.edu;mdanderson.org;bcgsc.ca	37	20	34050290	34050290	+	Missense_Mutation	SNP	A	A	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:34050290A>C	ENST00000397527.1	+	4	818	c.98A>C	c.(97-99)gAg>gCg	p.E33A	CEP250_ENST00000342580.4_Missense_Mutation_p.E33A|CEP250_ENST00000397524.1_Missense_Mutation_p.E33A	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	33					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)			CAGATGGCAGAGAATCAGGCA	0.582																																																0													42	38	40					20																	34050290		2203	4299	6502	SO:0001583	missense	11190			AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"centrosomal protein 2"	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.98A>C	20.37:g.34050290A>C	ENSP00000380661:p.Glu33Ala		E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	ENST00000397527.1	37	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	A	19.61	3.859359	0.71834	.	.	ENSG00000126001	ENST00000446710;ENST00000420564;ENST00000397527;ENST00000342580;ENST00000397524;ENST00000425934	T;T;T;T	0.55760	2.43;2.37;0.5;1.4	5.12	5.12	0.69794	.	0.228497	0.30809	N	0.008828	T	0.51975	0.1706	M	0.71581	2.175	0.45883	D	0.998736	P	0.46142	0.873	B	0.39660	0.306	T	0.61128	-0.7125	10	0.72032	D	0.01	.	12.5217	0.56062	1.0:0.0:0.0:0.0	.	33	Q9BV73	CP250_HUMAN	A	33	ENSP00000380661:E33A;ENSP00000341541:E33A;ENSP00000380658:E33A;ENSP00000413827:E33A	ENSP00000341541:E33A	E	+	2	0	CEP250	33513704	1.000000	0.71417	0.996000	0.52242	0.980000	0.70556	6.683000	0.74533	2.132000	0.65825	0.528000	0.53228	GAG		0.582	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		C	34050290	A	C	34050290	3	2	734	1	0	0	0	0	1	0	0	0	3254	304	11	5	100	5	CEP250	20	34050290	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	3819052	34050290	28975230	1006	42425											
SPAG4	6676	ucsc.edu	37	20	34207645	34207645	+	Missense_Mutation	SNP	G	G	A	rs376632243|rs532323841	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:34207645G>A	ENST00000374273.3	+	10	1166	c.1054G>A	c.(1054-1056)Gcc>Acc	p.A352T		NM_003116.1	NP_003107.1	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	352	SUN. {ECO:0000255|PROSITE- ProRule:PRU00802}.				spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|motile cilium (GO:0031514)	structural molecule activity (GO:0005198)			NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			AGCCAACAGCGCCCCCCGCGA	0.627																																																0													37	39	38					20																	34207645		2203	4300	6503	SO:0001583	missense	6676			AF043344	CCDS13259.1	20q11.2	2010-04-23			ENSG00000061656	ENSG00000061656			11214	protein-coding gene	gene with protein product	"acrosomal protein ACR55", "Sad1 and UNC84 domain containing 4", "cancer/testis antigen 127"	603038				9691178, 10373309	Standard	NM_003116		Approved	SUN4, CT127	uc002xdb.1	Q9NPE6	OTTHUMG00000032352	ENST00000374273.3:c.1054G>A	20.37:g.34207645G>A	ENSP00000363391:p.Ala352Thr		O43648	Missense_Mutation	SNP	ENST00000374273.3	37	CCDS13259.1	.	.	.	.	.	.	.	.	.	.	G	17.52	3.411031	0.62399	.	.	ENSG00000061656	ENST00000374273;ENST00000430878	T;T	0.52754	0.65;0.65	4.66	3.72	0.42706	Sad1/UNC-like, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.50274	0.1606	M	0.88241	2.94	0.46396	D	0.999025	P	0.52692	0.955	B	0.38327	0.271	T	0.62412	-0.6860	10	0.87932	D	0	-0.0314	10.1876	0.43006	0.0:0.0:0.8012:0.1988	.	352	Q9NPE6	SPAG4_HUMAN	T	352;47	ENSP00000363391:A352T;ENSP00000399231:A47T	ENSP00000363391:A352T	A	+	1	0	SPAG4	33671059	1.000000	0.71417	0.993000	0.49108	0.957000	0.61999	3.537000	0.53590	1.186000	0.42985	-0.218000	0.12543	GCC		0.627	SPAG4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078896.1	NM_003116		A	34207645	G	A	34207645	3	1	734	1	0	0	0	0	1	0	0	0	14986	1087	38	1	1092	1	SPAG4	20	34207645	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	157355	34207645	28817875	1007	42426											
C20orf117	140710	broad.mit.edu;mdanderson.org	37	20	35467800	35467800	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:35467800G>A	ENST00000357779.3	-	2	344	c.18C>T	c.(16-18)gaC>gaT	p.D6D	SOGA1_ENST00000279034.6_Silent_p.D6D|SOGA1_ENST00000237536.4_Silent_p.D244D			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	6					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						CCATATAGACGTCCCGCATCT	0.627																																																0													40	44	42					20																	35467800		2113	4241	6354	SO:0001819	synonymous_variant	140710			AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"suppressor of glucose by autophagy", "suppressor of glucose from autophagy"		"chromosome 20 open reading frame 117", "KIAA0889"	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.18C>T	20.37:g.35467800G>A			A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Silent	SNP	ENST00000357779.3	37																																																																																					0.627	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181		A	35467800	G	A	35467800	2	1	734	1	0	0	0	0	0	0	0	1	2085	1136	40	1		1	C20orf117	20	35467800	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1260155	35467800	27557720	1008	42427											
SLC32A1	140679	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	20	37353701	37353701	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:37353701G>A	ENST00000217420.1	+	1	597	c.334G>A	c.(334-336)Gac>Aac	p.D112N		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	112					aging (GO:0007568)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell tip (GO:0051286)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cone cell pedicle (GO:0044316)|dendrite (GO:0030425)|dendrite terminus (GO:0044292)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	gamma-aminobutyric acid:proton symporter activity (GO:0015495)|glycine transmembrane transporter activity (GO:0015187)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CGGGGGCCACGACAAGCCCAA	0.652																																																0													43	47	45					20																	37353701		2151	4231	6382	SO:0001583	missense	140679			AL133519	CCDS13307.1	20q11	2013-05-22			ENSG00000101438	ENSG00000101438		"Solute carriers"	11018	protein-coding gene	gene with protein product			"vesicular inhibitory amino acid transporter"	VIAAT		19843525	Standard	NM_080552		Approved	VGAT, bA122O1.1	uc002xjc.3	Q9H598	OTTHUMG00000032457	ENST00000217420.1:c.334G>A	20.37:g.37353701G>A	ENSP00000217420:p.Asp112Asn		Q8N489	Missense_Mutation	SNP	ENST00000217420.1	37	CCDS13307.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.979286	0.74360	.	.	ENSG00000101438	ENST00000217420	T	0.06933	3.24	5.09	5.09	0.68999	.	0.235220	0.42420	D	0.000720	T	0.04182	0.0116	N	0.08118	0	0.49051	D	0.999741	P	0.34724	0.465	B	0.23716	0.048	T	0.54423	-0.8296	10	0.17369	T	0.5	-37.7686	15.968	0.79987	0.0:0.0:1.0:0.0	.	112	Q9H598	VIAAT_HUMAN	N	112	ENSP00000217420:D112N	ENSP00000217420:D112N	D	+	1	0	SLC32A1	36787115	1.000000	0.71417	0.990000	0.47175	0.852000	0.48524	9.583000	0.98217	2.365000	0.80145	0.561000	0.74099	GAC		0.652	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079206.1	NM_080552		A	37353701	G	A	37353701	3	1	734	1	0	0	0	0	1	0	0	0	14571	1058	37	1	336	1	SLC32A1	20	37353701	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1885901	37353701	25671819	1009	42428											
PPP1R16B	26051	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	20	37529279	37529279	+	Missense_Mutation	SNP	G	G	A	rs139690056	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:37529279G>A	ENST00000299824.1	+	5	712	c.523G>A	c.(523-525)Gag>Aag	p.E175K	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.E175K	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	175					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)				TGACCTCTGCGAGGATGAACC	0.572																																																0								G	LYS/GLU,LYS/GLU	0,4406		0,0,2203	159	104	123		523,523	5	1	20	dbSNP_134	123	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	PPP1R16B	NM_001172735.1,NM_015568.2	56,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	175/526,175/568	37529279	1,13005	2203	4300	6503	SO:0001583	missense	26051			AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	15850	protein-coding gene	gene with protein product	"TGF-beta-inhibited membrane-associated protein", "ankyrin repeat domain protein 4"	613275	"protein phosphatase 1, regulatory (inhibitor) subunit 16B"			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.523G>A	20.37:g.37529279G>A	ENSP00000299824:p.Glu175Lys		A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Missense_Mutation	SNP	ENST00000299824.1	37	CCDS13309.1	.	.	.	.	.	.	.	.	.	.	G	36	5.767257	0.96914	0.0	1.16E-4	ENSG00000101445	ENST00000299824;ENST00000373331	T;T	0.52754	0.65;0.65	4.98	4.98	0.66077	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.67392	0.2888	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73380	0.957;0.98	T	0.65829	-0.6073	10	0.42905	T	0.14	.	18.8173	0.92081	0.0:0.0:1.0:0.0	.	175;175	E9PFS8;Q96T49	.;PP16B_HUMAN	K	175	ENSP00000299824:E175K;ENSP00000362428:E175K	ENSP00000299824:E175K	E	+	1	0	PPP1R16B	36962693	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	9.657000	0.98554	2.746000	0.94184	0.655000	0.94253	GAG		0.572	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079220.2	NM_015568		A	37529279	G	A	37529279	3	1	734	1	0	0	0	0	1	0	0	0	12371	1059	37	1	537	1	PPP1R16B	20	37529279	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	175578	37529279	25496241	1010	42429											
PLCG1	5335	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	20	39801085	39801085	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:39801085A>G	ENST00000373271.1	+	26	3335	c.2930A>G	c.(2929-2931)tAc>tGc	p.Y977C	PLCG1_ENST00000244007.3_Missense_Mutation_p.Y977C|PLCG1_ENST00000373272.2_Missense_Mutation_p.Y977C|PLCG1_ENST00000608689.1_3'UTR	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	977	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				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)				CGTGCTTGCTACCGGGACATG	0.517																																																0													54	49	51					20																	39801085		2203	4300	6503	SO:0001583	missense	5335			M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"Pleckstrin homology (PH) domain containing", "EF-hand domain containing", "SH2 domain containing"	9065	protein-coding gene	gene with protein product		172420	"phospholipase C, gamma 1 (formerly subtype 148)"	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.2930A>G	20.37:g.39801085A>G	ENSP00000362368:p.Tyr977Cys		B7ZLY7|B9EGH4|E1P5W4|Q2V575	Missense_Mutation	SNP	ENST00000373271.1	37	CCDS13314.1	.	.	.	.	.	.	.	.	.	.	A	14.98	2.698732	0.48307	.	.	ENSG00000124181	ENST00000244007;ENST00000373271;ENST00000373272	T;T;T	0.53640	0.61;0.61;0.61	5.67	5.67	0.87782	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.116625	0.64402	D	0.000015	T	0.55737	0.1939	M	0.64260	1.97	0.54753	D	0.999989	B;P;B	0.35348	0.09;0.496;0.11	B;B;B	0.43728	0.067;0.429;0.111	T	0.58165	-0.7684	10	0.56958	D	0.05	.	15.9087	0.79450	1.0:0.0:0.0:0.0	.	977;977;977	P19174-2;P19174;A2A284	.;PLCG1_HUMAN;.	C	977	ENSP00000244007:Y977C;ENSP00000362368:Y977C;ENSP00000362369:Y977C	ENSP00000244007:Y977C	Y	+	2	0	PLCG1	39234499	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.230000	0.51286	2.165000	0.68154	0.533000	0.62120	TAC		0.517	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080514.3	NM_182811		G	39801085	A	G	39801085	3	3	734	1	0	0	0	0	1	0	0	0	12037	391	14	3	3032	3	PLCG1	20	39801085	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	2271806	39801085	23224435	1011	42430											
LPIN3	64900	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	20	39980542	39980542	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:39980542C>T	ENST00000373257.3	+	8	1275	c.1184C>T	c.(1183-1185)gCg>gTg	p.A395V		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	395					fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|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)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				GAGAATGCAGCGCTTTACTTC	0.597																																																0													106	99	101					20																	39980542		2203	4300	6503	SO:0001583	missense	64900			AL132654	CCDS33469.1	20q11.2-q12	2006-04-04	2002-05-23		ENSG00000132793	ENSG00000132793			14451	protein-coding gene	gene with protein product		605520	"lipin 3-like"	LIPN3L		11138012	Standard	XM_005260515		Approved	SMP2	uc002xjx.3	Q9BQK8	OTTHUMG00000033056	ENST00000373257.3:c.1184C>T	20.37:g.39980542C>T	ENSP00000362354:p.Ala395Val		B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Missense_Mutation	SNP	ENST00000373257.3	37	CCDS33469.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.268312	0.80469	.	.	ENSG00000132793	ENST00000373257;ENST00000373259	D	0.86097	-2.07	5.32	3.4	0.38934	.	0.129916	0.50627	N	0.000109	D	0.91459	0.7304	M	0.83384	2.64	0.53688	D	0.999976	D;D	0.89917	1.0;1.0	D;D	0.80764	0.923;0.994	D	0.90563	0.4517	9	.	.	.	-19.3926	10.7572	0.46243	0.0:0.844:0.0:0.156	.	396;395	Q9BQK8-2;Q9BQK8	.;LPIN3_HUMAN	V	395;59	ENSP00000362354:A395V	.	A	+	2	0	LPIN3	39413956	0.999000	0.42202	0.991000	0.47740	0.889000	0.51656	3.976000	0.56867	0.629000	0.30376	-0.222000	0.12452	GCG		0.597	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080393.1	NM_022896		T	39980542	C	T	39980542	3	4	734	1	0	0	0	0	1	0	0	0	8922	768	27	1	1210	1	LPIN3	20	39980542	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	179457	39980542	23044978	1012	42431											
MMP9	4318	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	20	44641958	44641958	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:44641958G>A	ENST00000372330.3	+	9	1414	c.1395G>A	c.(1393-1395)ccG>ccA	p.P465P	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	465					collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	CGGCTCCCCCGACGGTCTGCC	0.687											OREG0025990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													45	60	55					20																	44641958		2185	4271	6456	SO:0001819	synonymous_variant	4318				CCDS13390.1	20q12-q13	2008-01-07	2005-08-08		ENSG00000100985	ENSG00000100985	3.4.24.35		7176	protein-coding gene	gene with protein product		120361	"matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase)", "matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)"	CLG4B		2158484	Standard	NM_004994		Approved		uc002xqz.3	P14780	OTTHUMG00000033044	ENST00000372330.3:c.1395G>A	20.37:g.44641958G>A		925	B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Silent	SNP	ENST00000372330.3	37	CCDS13390.1																																																																																				0.687	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080337.1			A	44641958	G	A	44641958	2	1	734	1	0	0	0	0	0	0	0	1	9671	1045	37	1		1	MMP9	20	44641958	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	4661416	44641958	18383562	1013	42432											
SLC2A10	81031	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	20	45355544	45355544	+	Nonsense_Mutation	SNP	C	C	T	rs370547023		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:45355544C>T	ENST00000359271.2	+	3	1580	c.1330C>T	c.(1330-1332)Cga>Tga	p.R444*		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	444					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sugar:proton symporter activity (GO:0005351)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				TGTGGAGATACGAGGAAGAGC	0.592																																																0			GRCh37	CM070263	SLC2A10	M		C	stop/ARG	0,4406		0,0,2203	154	139	144		1330	2.6	1	20		144	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	SLC2A10	NM_030777.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		444/542	45355544	1,13005	2203	4300	6503	SO:0001587	stop_gained	81031			AL137188	CCDS13402.1	20q13.12	2013-05-22			ENSG00000197496	ENSG00000197496		"Solute carriers"	13444	protein-coding gene	gene with protein product		606145				11247674	Standard	NM_030777		Approved	GLUT10	uc002xsl.3	O95528	OTTHUMG00000032657	ENST00000359271.2:c.1330C>T	20.37:g.45355544C>T	ENSP00000352216:p.Arg444*		A8K4J6|Q3MIX5|Q9H4I6	Nonsense_Mutation	SNP	ENST00000359271.2	37	CCDS13402.1	.	.	.	.	.	.	.	.	.	.	C	36	5.906790	0.97093	0.0	1.16E-4	ENSG00000197496	ENST00000359271	.	.	.	5.8	2.61	0.31194	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.5252	15.405	0.74871	0.5717:0.4283:0.0:0.0	.	.	.	.	X	444	.	ENSP00000352216:R444X	R	+	1	2	SLC2A10	44788951	0.989000	0.36119	1.000000	0.80357	0.179000	0.23085	1.977000	0.40589	0.768000	0.33290	0.467000	0.42956	CGA		0.592	SLC2A10-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079578.2			T	45355544	C	T	45355544	4	4	734	1	0	0	0	0	0	1	0	0	14545	528	19	1	1340	1	SLC2A10	20	45355544	Nonsense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	713586	45355544	17669976	1014	42433											
SULF2	55959	broad.mit.edu	37	20	46365622	46365622	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:46365622G>A	ENST00000359930.4	-	3	1091	c.240C>T	c.(238-240)aaC>aaT	p.N80N	SULF2_ENST00000361612.4_Silent_p.N80N|SULF2_ENST00000467815.1_Silent_p.N80N|SULF2_ENST00000484875.1_Silent_p.N80N|SULF2_ENST00000478766.1_5'UTR	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	80					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						TCACGAAGGCGTTGATGAAGT	0.582																																																0													235	181	199					20																	46365622		2203	4300	6503	SO:0001819	synonymous_variant	55959			AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.240C>T	20.37:g.46365622G>A			E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Silent	SNP	ENST00000359930.4	37	CCDS13408.1																																																																																				0.582	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837		A	46365622	G	A	46365622	2	1	734	1	0	0	0	0	0	0	0	1	15376	1136	40	1		1	SULF2	20	46365622	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1010078	46365622	16659898	1015	42434											
KCNB1	3745	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	20	48098552	48098552	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:48098552G>A	ENST00000371741.4	-	1	632	c.466C>T	c.(466-468)Cgg>Tgg	p.R156W		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	156					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)	TCCCGCTCCCGTAGGGTCTCG	0.582																																																0													170	138	148					20																	48098552		2203	4300	6503	SO:0001583	missense	3745			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.466C>T	20.37:g.48098552G>A	ENSP00000360806:p.Arg156Trp		Q14193	Missense_Mutation	SNP	ENST00000371741.4	37	CCDS13418.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.177032	0.38413	.	.	ENSG00000158445	ENST00000371741;ENST00000538812	D	0.96554	-4.05	5.15	3.17	0.36434	.	0.132166	0.46758	D	0.000280	D	0.97845	0.9292	M	0.85542	2.76	0.32967	D	0.521814	D	0.89917	1.0	D	0.67548	0.952	D	0.99908	1.1188	10	0.87932	D	0	.	13.7034	0.62622	0.0:0.0:0.6011:0.3989	.	156	Q14721	KCNB1_HUMAN	W	156;111	ENSP00000360806:R156W	ENSP00000360806:R156W	R	-	1	2	KCNB1	47531959	0.998000	0.40836	0.009000	0.14445	0.619000	0.37552	1.309000	0.33539	0.726000	0.32339	-0.311000	0.09066	CGG		0.582	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975		A	48098552	G	A	48098552	3	1	734	1	0	0	0	0	1	0	0	0	8014	1144	40	1	2118	1	KCNB1	20	48098552	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1732930	48098552	14926968	1016	42435											
SPATA2	9825	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	20	48524979	48524979	+	Missense_Mutation	SNP	G	G	A	rs77667957		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:48524979G>A	ENST00000422556.1	-	2	398	c.49C>T	c.(49-51)Cgg>Tgg	p.R17W	SPATA2_ENST00000543716.1_Intron|SPATA2_ENST00000289431.5_Missense_Mutation_p.R17W	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	17					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)			ACGTACTTCCGAAATAAGTCA	0.552																																																0								G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	90	84	86		49,49	3.8	1	20	dbSNP_131	86	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	SPATA2	NM_001135773.1,NM_006038.3	101,101	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging,probably-damaging	17/521,17/521	48524979	3,13003	2203	4300	6503	SO:0001583	missense	9825			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.49C>T	20.37:g.48524979G>A	ENSP00000416799:p.Arg17Trp		E1P626|O94857	Missense_Mutation	SNP	ENST00000422556.1	37	CCDS13422.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.223817	0.79576	0.0	3.49E-4	ENSG00000158480	ENST00000289431;ENST00000422556	T;T	0.57107	0.42;0.42	4.79	3.77	0.43336	.	0.000000	0.85682	D	0.000000	T	0.67392	0.2888	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.69487	-0.5132	10	0.87932	D	0	-23.3774	10.756	0.46237	0.0:0.0:0.6354:0.3646	.	17	Q9UM82	SPAT2_HUMAN	W	17	ENSP00000289431:R17W;ENSP00000416799:R17W	ENSP00000289431:R17W	R	-	1	2	SPATA2	47958386	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.214000	0.65236	2.661000	0.90470	0.655000	0.94253	CGG		0.552	SPATA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079658.1	NM_006038		A	48524979	G	A	48524979	3	1	734	1	0	0	0	0	1	0	0	0	15010	1057	37	1	1521	1	SPATA2	20	48524979	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	426427	48524979	14500541	1017	42436											
TMEM189	387522	broad.mit.edu;mdanderson.org	37	20	48744630	48744630	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:48744630C>T	ENST00000341698.2	-	5	572	c.573G>A	c.(571-573)acG>acA	p.T191T	TMEM189_ENST00000371656.2_Silent_p.T116T|TMEM189_ENST00000371652.4_Silent_p.T191T|TMEM189_ENST00000371650.5_Silent_p.T188T|TMEM189_ENST00000557021.1_Silent_p.T191T	NM_001257399.1	NP_001244328.1			TMEM189-UBE2V1 readthrough											breast(1)|endometrium(4)|large_intestine(6)|lung(6)	17			BRCA - Breast invasive adenocarcinoma(9;8.29e-07)			GCCCAAAGTACGTGTGCGACC	0.587																																																0													219	146	171					20																	48744630		2203	4300	6503	SO:0001819	synonymous_variant	387521			U39361	CCDS13424.1	20q13.13	2011-05-31			ENSG00000124208	ENSG00000124208			33521	other	readthrough						11076860	Standard	NM_199203		Approved	Kua-UEV, CROC-1B	uc002xvf.3		OTTHUMG00000033085	ENST00000341698.2:c.573G>A	20.37:g.48744630C>T				Silent	SNP	ENST00000341698.2	37	CCDS13424.1																																																																																				0.587	TMEM189-UBE2V1-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000080532.5			T	48744630	C	T	48744630	2	4	734	1	0	0	0	0	0	0	0	1	16116	523	19	1		1	TMEM189	20	48744630	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	219651	48744630	14280890	1018	42437											
FAM65C	140876	broad.mit.edu	37	20	49218734	49218734	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:49218734C>T	ENST00000327979.2	-	13	1933	c.1522G>A	c.(1522-1524)Ggg>Agg	p.G508R	FAM65C_ENST00000045083.2_Missense_Mutation_p.G508R|FAM65C_ENST00000535356.1_Missense_Mutation_p.G512R			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	508										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						ACGCCAGGCCCGTCCTCTCTG	0.697																																																0													28	28	28					20																	49218734		2203	4300	6503	SO:0001583	missense	140876			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.1522G>A	20.37:g.49218734C>T	ENSP00000332663:p.Gly508Arg		Q5QPB6|Q9NQQ2	Missense_Mutation	SNP	ENST00000327979.2	37	CCDS13431.2	.	.	.	.	.	.	.	.	.	.	C	11.17	1.559252	0.27827	.	.	ENSG00000042062	ENST00000327979;ENST00000045083;ENST00000535356	T;T;T	0.16597	2.33;2.33;2.33	4.63	-2.66	0.06077	.	0.766780	0.12147	N	0.495269	T	0.07773	0.0195	N	0.21583	0.68	0.09310	N	1	B;B	0.18968	0.013;0.032	B;B	0.14578	0.011;0.006	T	0.33599	-0.9862	10	0.25751	T	0.34	-9.5507	1.9319	0.03328	0.1256:0.437:0.1229:0.3144	.	512;508	F5H0X2;Q96MK2	.;FA65C_HUMAN	R	508;508;512	ENSP00000332663:G508R;ENSP00000045083:G508R;ENSP00000439802:G512R	ENSP00000045083:G508R	G	-	1	0	FAM65C	48652141	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.606000	0.05654	-0.521000	0.06426	-1.036000	0.02392	GGG		0.697	FAM65C-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257962.1			T	49218734	C	T	49218734	3	4	734	1	0	0	0	0	1	0	0	0	5603	652	23	1	1358	1	FAM65C	20	49218734	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	474104	49218734	13806786	1019	42438											
BCAS1	8537	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	20	52601913	52601913	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:52601913G>A	ENST00000395961.3	-	7	1219	c.1053C>T	c.(1051-1053)tcC>tcT	p.S351S	BCAS1_ENST00000371440.3_Silent_p.S396S|BCAS1_ENST00000434986.2_Silent_p.S109S|BCAS1_ENST00000371435.2_Silent_p.S351S	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	351						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			GGGTTGTCACGGACTGTGTGT	0.517																																																0													261	222	235					20																	52601913		2203	4300	6503	SO:0001819	synonymous_variant	8537			AF041260	CCDS13444.1	20q13.2	2006-11-10			ENSG00000064787	ENSG00000064787			974	protein-coding gene	gene with protein product		602968				9671742	Standard	NM_003657		Approved	NABC1, AIBC1	uc002xws.2	O75363	OTTHUMG00000032772	ENST00000395961.3:c.1053C>T	20.37:g.52601913G>A			A0AVG5|Q68CZ3	Silent	SNP	ENST00000395961.3	37	CCDS13444.1	.	.	.	.	.	.	.	.	.	.	G	4.443	0.082021	0.08533	.	.	ENSG00000064787	ENST00000422805	.	.	.	4.44	-6.42	0.01932	.	.	.	.	.	T	0.16385	0.0394	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.29941	-0.9995	4	.	.	.	-2.4618	1.8346	0.03137	0.1966:0.1373:0.3962:0.2698	.	.	.	.	L	70	.	.	P	-	2	0	BCAS1	52035320	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.874000	0.00718	-0.508000	0.06540	-0.302000	0.09304	CCG		0.517	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079766.2	NM_003657		A	52601913	G	A	52601913	2	1	734	1	0	0	0	0	0	0	0	1	1350	1103	39	1		1	BCAS1	20	52601913	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	3383179	52601913	10423607	1020	42439											
BCAS1	8537	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	20	52645320	52645320	+	Missense_Mutation	SNP	C	C	T	rs201371925		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:52645320C>T	ENST00000395961.3	-	4	500	c.334G>A	c.(334-336)Gca>Aca	p.A112T	BCAS1_ENST00000371440.3_Missense_Mutation_p.A112T|BCAS1_ENST00000411563.1_Missense_Mutation_p.A15T|BCAS1_ENST00000371435.2_Missense_Mutation_p.A112T	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	112						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			GATGAATCTGCGGCTTGGTCT	0.532																																																0													71	68	69					20																	52645320		2203	4300	6503	SO:0001583	missense	8537			AF041260	CCDS13444.1	20q13.2	2006-11-10			ENSG00000064787	ENSG00000064787			974	protein-coding gene	gene with protein product		602968				9671742	Standard	NM_003657		Approved	NABC1, AIBC1	uc002xws.2	O75363	OTTHUMG00000032772	ENST00000395961.3:c.334G>A	20.37:g.52645320C>T	ENSP00000379290:p.Ala112Thr		A0AVG5|Q68CZ3	Missense_Mutation	SNP	ENST00000395961.3	37	CCDS13444.1	.	.	.	.	.	.	.	.	.	.	C	1.524	-0.546098	0.04024	.	.	ENSG00000064787	ENST00000371440;ENST00000395961;ENST00000371435;ENST00000411563	T;T;T;T	0.04758	3.56;3.56;3.56;3.56	5.11	-3.93	0.04143	.	0.785958	0.11479	N	0.559912	T	0.00784	0.0026	N	0.00142	-2.005	0.09310	N	0.999999	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	0.38520	-0.9657	10	0.02654	T	1	-0.4969	4.5089	0.11901	0.5014:0.2285:0.0:0.2701	.	15;112;112;112;112;112	B4E2C4;B2RCQ5;O75363-2;G3XAF7;A0AVG7;O75363	.;.;.;.;.;BCAS1_HUMAN	T	112;112;112;15	ENSP00000360495:A112T;ENSP00000379290:A112T;ENSP00000360490:A112T;ENSP00000397442:A15T	ENSP00000360490:A112T	A	-	1	0	BCAS1	52078727	0.082000	0.21442	0.548000	0.28192	0.660000	0.38997	-0.061000	0.11693	-1.046000	0.03246	-0.414000	0.06135	GCA		0.532	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079766.2	NM_003657		T	52645320	C	T	52645320	3	4	734	1	0	0	0	0	1	0	0	0	1350	768	27	1	1456	1	BCAS1	20	52645320	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	43407	52645320	10380200	1021	42440											
C20orf107	388799	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	20	55111249	55111249	+	Nonsense_Mutation	SNP	C	C	T	rs200395408	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:55111249C>T	ENST00000371325.1	+	2	367	c.271C>T	c.(271-273)Cga>Tga	p.R91*		NM_001013646.2	NP_001013668.2	Q5JX69	F209B_HUMAN	family with sequence similarity 209, member B	91						integral component of membrane (GO:0016021)|nucleus (GO:0005634)											TCCTGGCCTTCGAGGCTTCCC	0.408													C|||	2	0.000399361	0.0015	0.0	5008	,	,		21293	0.0		0.0	False		,,,				2504	0.0															0													89	91	90					20																	55111249		2203	4300	6503	SO:0001587	stop_gained	388799			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.271C>T	20.37:g.55111249C>T	ENSP00000360376:p.Arg91*		Q3KRB5	Nonsense_Mutation	SNP	ENST00000371325.1	37	CCDS33494.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	19.90	3.913153	0.72983	.	.	ENSG00000213714	ENST00000371325	.	.	.	2.71	2.71	0.32032	.	0.451422	0.16428	U	0.214854	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.8967	9.076	0.36522	0.0:1.0:0.0:0.0	.	.	.	.	X	91	.	ENSP00000360376:R91X	R	+	1	2	C20orf107	54544656	0.280000	0.24249	0.316000	0.25252	0.524000	0.34500	0.976000	0.29462	1.829000	0.53265	0.491000	0.48974	CGA		0.408	FAM209B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079816.1			T	55111249	C	T	55111249	4	4	734	1	0	0	0	0	0	1	0	0	2079	876	31	1	277	1	C20orf107	20	55111249	Nonsense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	2465929	55111249	7914271	1022	42441											
BMP7	655	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	20	55803427	55803427	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:55803427G>A	ENST00000395863.3	-	2	974	c.469C>T	c.(469-471)Cgg>Tgg	p.R157W	BMP7_ENST00000450594.2_Missense_Mutation_p.R157W|BMP7_ENST00000395864.3_Missense_Mutation_p.R157W	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	157					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of an epithelial tube (GO:0048754)|cartilage development (GO:0051216)|cellular response to hypoxia (GO:0071456)|dendrite development (GO:0016358)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint morphogenesis (GO:0060272)|epithelial cell differentiation (GO:0030855)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|growth (GO:0040007)|mesenchymal cell differentiation (GO:0048762)|mesenchyme development (GO:0060485)|mesoderm formation (GO:0001707)|mesonephros development (GO:0001823)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|metanephric mesenchyme morphogenesis (GO:0072133)|metanephros development (GO:0001656)|monocyte aggregation (GO:0070487)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell apoptotic process involved in nephron morphogenesis (GO:0072040)|negative regulation of mitosis (GO:0045839)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of dendrite development (GO:1900006)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of hyaluranon cable assembly (GO:1900106)|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 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 localization to nucleus (GO:0034504)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of removal of superoxide radicals (GO:2000121)|response to estradiol (GO:0032355)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|steroid hormone mediated signaling pathway (GO:0043401)|ureteric bud development (GO:0001657)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	heparin binding (GO:0008201)			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			AGATCAAACCGGAACTCTCGA	0.512																																																0													168	165	166					20																	55803427		2203	4300	6503	SO:0001583	missense	655				CCDS13455.1	20q13	2014-01-30	2008-05-22		ENSG00000101144	ENSG00000101144		"Bone morphogenetic proteins", "Endogenous ligands"	1074	protein-coding gene	gene with protein product	"osteogenic protein 1"	112267				1427904	Standard	NM_001719		Approved	OP-1	uc010gip.1	P18075	OTTHUMG00000032812	ENST00000395863.3:c.469C>T	20.37:g.55803427G>A	ENSP00000379204:p.Arg157Trp		Q9H512|Q9NTQ7	Missense_Mutation	SNP	ENST00000395863.3	37	CCDS13455.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.15|15.15	2.748028|2.748028	0.49257|0.49257	.|.	.|.	ENSG00000101144|ENSG00000101144	ENST00000433911|ENST00000395863;ENST00000395864;ENST00000450594	.|T;T;T	.|0.64438	.|-0.1;-0.1;-0.1	5.33|5.33	4.32|4.32	0.51571|0.51571	.|Transforming growth factor-beta, N-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.72236|0.72236	0.3435|0.3435	L|L	0.47016|0.47016	1.485|1.485	0.80722|0.80722	D|D	1|1	.|B;B;D	.|0.89917	.|0.066;0.02;1.0	.|B;B;D	.|0.85130	.|0.039;0.013;0.997	T|T	0.69483|0.69483	-0.5133|-0.5133	5|10	.|0.34782	.|T	.|0.22	.|.	15.5359|15.5359	0.76001|0.76001	0.0:0.0:0.8035:0.1965|0.0:0.0:0.8035:0.1965	.|.	.|157;157;157	.|B1AKZ9;P18075;B1AL00	.|.;BMP7_HUMAN;.	L|W	42|157	.|ENSP00000379204:R157W;ENSP00000379205:R157W;ENSP00000398687:R157W	.|ENSP00000379204:R157W	P|R	-|-	2|1	0|2	BMP7|BMP7	55236834|55236834	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	3.728000|3.728000	0.54991|0.54991	2.644000|2.644000	0.89710|0.89710	0.655000|0.655000	0.94253|0.94253	CCG|CGG		0.512	BMP7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079831.2			A	55803427	G	A	55803427	3	1	734	1	0	0	0	0	1	0	0	0	1465	1115	39	1	850	1	BMP7	20	55803427	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	692178	55803427	7222093	1023	42442											
ZBP1	81030	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	20	56185305	56185305	+	Silent	SNP	G	G	A	rs186925447		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:56185305G>A	ENST00000371173.3	-	7	1170	c.993C>T	c.(991-993)gaC>gaT	p.D331D	ZBP1_ENST00000395822.3_Silent_p.D256D|ZBP1_ENST00000343535.4_Silent_p.D331D|ZBP1_ENST00000340462.4_Silent_p.D308D	NM_001160417.1|NM_030776.2	NP_001153889.1|NP_110403.2	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	331					innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|left-handed Z-DNA binding (GO:0003692)|RNA binding (GO:0003723)	p.D331D(1)		large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			CGATGGTGGCGTCCTCGAGAA	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		18253	0.001		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	large_intestine(1)						G	,,	1,4405	2.1+/-5.4	0,1,2202	209	213	211		990,768,993	-6.6	0	20		211	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	ZBP1	NM_001160417.1,NM_001160418.1,NM_030776.2	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	330/429,256/355,331/430	56185305	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	81030			AJ300575	CCDS13461.1, CCDS54477.1, CCDS54478.1	20q13.31	2009-08-21	2002-07-25	2002-07-26	ENSG00000124256	ENSG00000124256			16176	protein-coding gene	gene with protein product	"DNA-dependent activator of IRFs"	606750	"chromosome 20 open reading frame 183"	C20orf183		11842111	Standard	NM_030776		Approved	dJ718J7.3, DLM1, DLM-1, DAI	uc002xyo.3	Q9H171	OTTHUMG00000032824	ENST00000371173.3:c.993C>T	20.37:g.56185305G>A			A2A2F7|B3KVA1|F5GYT1|Q5JY39|Q9BYW4	Silent	SNP	ENST00000371173.3	37	CCDS13461.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	2.819	-0.245245	0.05906	2.27E-4	0.0	ENSG00000124256	ENST00000453793	.	.	.	4.03	-6.57	0.01842	.	.	.	.	.	T	0.24967	0.0606	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.27400	-1.0075	4	.	.	.	-18.5432	6.8038	0.23766	0.4777:0.2171:0.3052:0.0	.	.	.	.	M	6	.	.	T	-	2	0	ZBP1	55618711	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.448000	0.02394	-1.778000	0.01282	-1.564000	0.00881	ACG		0.597	ZBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079849.1	NM_030776		A	56185305	G	A	56185305	2	1	734	1	0	0	0	0	0	0	0	1	17526	1136	40	1		1	ZBP1	20	56185305	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	381878	56185305	6840215	1024	42443											
PMEPA1	56937	broad.mit.edu;mdanderson.org;bcgsc.ca	37	20	56227600	56227600	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:56227600C>T	ENST00000341744.3	-	4	692	c.373G>A	c.(373-375)Gcc>Acc	p.A125T	PMEPA1_ENST00000395814.1_Missense_Mutation_p.A75T|PMEPA1_ENST00000347215.4_Missense_Mutation_p.A90T|PMEPA1_ENST00000265626.4_Missense_Mutation_p.A75T|PMEPA1_ENST00000395816.3_Missense_Mutation_p.A75T	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	125					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						TCCCGCTGGGCGAAGGGCGGC	0.706																																																0													20	21	21					20																	56227600		2198	4286	6484	SO:0001583	missense	56937			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.373G>A	20.37:g.56227600C>T	ENSP00000345826:p.Ala125Thr		Q5TDR6|Q8NER4|Q96B72|Q9UJD3	Missense_Mutation	SNP	ENST00000341744.3	37	CCDS13463.1	.	.	.	.	.	.	.	.	.	.	C	11.05	1.524389	0.27299	.	.	ENSG00000124225	ENST00000341744;ENST00000347215;ENST00000395816;ENST00000265626;ENST00000395814;ENST00000414037;ENST00000395819	T;T;T;T;T;T;T	0.45668	0.89;0.9;0.92;0.92;0.92;0.9;0.9	5.32	-5.54	0.02544	.	0.645184	0.15683	N	0.249802	T	0.14743	0.0356	N	0.11255	0.115	0.22835	N	0.998677	B;B	0.13594	0.003;0.008	B;B	0.06405	0.001;0.002	T	0.06552	-1.0820	10	0.34782	T	0.22	-17.5275	1.6546	0.02779	0.1716:0.1762:0.1887:0.4634	.	90;125	Q5JY37;Q969W9	.;PMEPA_HUMAN	T	125;90;75;75;75;97;182	ENSP00000345826:A125T;ENSP00000344014:A90T;ENSP00000379161:A75T;ENSP00000265626:A75T;ENSP00000379159:A75T;ENSP00000401506:A97T;ENSP00000379164:A182T	ENSP00000265626:A75T	A	-	1	0	PMEPA1	55661006	0.000000	0.05858	0.918000	0.36340	0.589000	0.36550	-1.384000	0.02542	-0.775000	0.04584	-0.216000	0.12614	GCC		0.706	PMEPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079858.2	NM_020182		T	56227600	C	T	56227600	3	4	734	1	0	0	0	0	1	0	0	0	12134	768	27	1	494	1	PMEPA1	20	56227600	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	42295	56227600	6797920	1025	42444											
ZNF831	128611	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	20	57769704	57769704	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:57769704C>T	ENST00000371030.2	+	1	3630	c.3630C>T	c.(3628-3630)caC>caT	p.H1210H		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1210							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)					TGGCGGTGCACTTTCCTGGTA	0.642																																																0													31	36	34					20																	57769704		2094	4220	6314	SO:0001819	synonymous_variant	128611			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 174"	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.3630C>T	20.37:g.57769704C>T			Q5TDR4|Q8TCP0	Silent	SNP	ENST00000371030.2	37	CCDS42894.1																																																																																				0.642	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		T	57769704	C	T	57769704	2	4	734	1	0	0	0	0	0	0	0	1	18190	564	20	2		2	ZNF831	20	57769704	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1542104	57769704	5255816	1026	42445											
EDN3	1908	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	20	57899467	57899467	+	Missense_Mutation	SNP	G	G	A	rs11570351	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:57899467G>A	ENST00000337938.2	+	5	1056	c.670G>A	c.(670-672)Gct>Act	p.A224T	EDN3_ENST00000311585.7_3'UTR|EDN3_ENST00000371028.2_Missense_Mutation_p.A224T|EDN3_ENST00000371025.3_3'UTR|EDN3_ENST00000395654.3_Missense_Mutation_p.A210T	NM_207034.1	NP_996917.1	P14138	EDN3_HUMAN	endothelin 3	224			A -> T (in HSCR4; dbSNP:rs11570351). {ECO:0000269|PubMed:9359047}.		blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|inositol phosphate-mediated signaling (GO:0048016)|melanocyte differentiation (GO:0030318)|multicellular organismal development (GO:0007275)|neural crest cell migration (GO:0001755)|neuron differentiation (GO:0030182)|neutrophil chemotaxis (GO:0030593)|peptide hormone secretion (GO:0030072)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart rate (GO:0010460)|positive regulation of hormone secretion (GO:0046887)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|regulation of developmental pigmentation (GO:0048070)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|signal transduction (GO:0007165)|vasoconstriction (GO:0042310)|vein smooth muscle contraction (GO:0014826)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)|receptor binding (GO:0005102)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					ACTCGCCCTCGCTCCATCTAC	0.592													G|||	7	0.00139776	0.0053	0.0	5008	,	,		15172	0.0		0.0	False		,,,				2504	0.0															0			GRCh37	CM972864	EDN3	M	rs11570351	G	THR/ALA,,THR/ALA,THR/ALA	21,4385	28.1+/-56.4	0,21,2182	93	94	94	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	670,,628,670	0.2	0	20	dbSNP_120	94	1,8599	1.2+/-3.3	0,1,4299	yes	missense,utr-3,missense,missense	EDN3	NM_000114.2,NM_207032.1,NM_207033.1,NM_207034.1	58,,58,58	0,22,6481	AA,AG,GG		0.0116,0.4766,0.1692	benign,,benign,benign	224/239,,210/225,224/239	57899467	22,12984	2203	4300	6503	SO:0001583	missense	1908			X52001	CCDS13477.1, CCDS13478.1, CCDS13479.1	20q13.2-q13.3	2013-02-26			ENSG00000124205	ENSG00000124205		"Endogenous ligands"	3178	protein-coding gene	gene with protein product		131242					Standard	NM_000114		Approved	ET3	uc002yaq.3	P14138	OTTHUMG00000032867	ENST00000337938.2:c.670G>A	20.37:g.57899467G>A	ENSP00000337128:p.Ala224Thr		E1P5I5|Q03229|Q7Z6D2|Q9UGT7	Missense_Mutation	SNP	ENST00000337938.2	37	CCDS13477.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	G	10.61	1.399258	0.25291	0.004766	1.16E-4	ENSG00000124205	ENST00000337938;ENST00000371028;ENST00000395654	D;D;D	0.96232	-2.15;-2.15;-3.95	4.51	0.201	0.15186	.	.	.	.	.	D	0.86439	0.5933	N	0.22421	0.69	0.09310	N	1	B;B	0.32350	0.366;0.251	B;B	0.23419	0.046;0.021	T	0.80797	-0.1222	9	0.62326	D	0.03	.	4.04	0.09746	0.2984:0.1754:0.5262:0.0	rs11570351	210;224	P14138-2;P14138	.;EDN3_HUMAN	T	224;224;210	ENSP00000337128:A224T;ENSP00000360067:A224T;ENSP00000379015:A210T	ENSP00000337128:A224T	A	+	1	0	EDN3	57332862	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.158000	0.10070	-0.021000	0.14009	-0.251000	0.11542	GCT		0.592	EDN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079919.2	NM_000114		A	57899467	G	A	57899467	3	1	734	1	0	0	0	0	1	0	0	0	4920	1087	38	1	727	1	EDN3	20	57899467	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	129763	57899467	5126053	1027	42446											
HRH3	11255	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	20	60791451	60791451	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:60791451G>A	ENST00000340177.5	-	3	1233	c.949C>T	c.(949-951)Ccg>Tcg	p.P317S	HRH3_ENST00000317393.6_Missense_Mutation_p.P317S	NM_007232.2	NP_009163.2	Q9Y5N1	HRH3_HUMAN	histamine receptor H3	317					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)	AGTGAGCGCGGCCTCTCAGTG	0.706																																																0													7	7	7					20																	60791451		2146	4213	6359	SO:0001583	missense	11255			AF140538	CCDS13493.1	20q13.33	2013-09-19			ENSG00000101180	ENSG00000101180		"GPCR / Class A : Histamine receptors"	5184	protein-coding gene	gene with protein product		604525				10347254	Standard	NM_007232		Approved	GPCR97	uc002ycf.2	Q9Y5N1	OTTHUMG00000032899	ENST00000340177.5:c.949C>T	20.37:g.60791451G>A	ENSP00000342560:p.Pro317Ser		Q4QRI7|Q9GZX2|Q9H4K8	Missense_Mutation	SNP	ENST00000340177.5	37	CCDS13493.1	.	.	.	.	.	.	.	.	.	.	G	11.45	1.643694	0.29246	.	.	ENSG00000101180	ENST00000340177;ENST00000317393;ENST00000370797	T;T	0.69040	-0.3;-0.37	4.8	4.8	0.61643	GPCR, rhodopsin-like superfamily (1);	0.239450	0.36972	N	0.002304	T	0.55878	0.1948	M	0.64997	1.995	0.09310	N	1	B;B	0.24823	0.112;0.051	B;B	0.24541	0.032;0.054	T	0.44360	-0.9333	10	0.07482	T	0.82	-16.1255	7.4237	0.27085	0.0829:0.0:0.6663:0.2508	.	317;317	Q9Y5N1-2;Q9Y5N1	.;HRH3_HUMAN	S	317;317;287	ENSP00000342560:P317S;ENSP00000321482:P317S	ENSP00000321482:P317S	P	-	1	0	HRH3	60224846	0.961000	0.32948	0.987000	0.45799	0.965000	0.64279	2.510000	0.45468	2.185000	0.69588	0.407000	0.27541	CCG		0.706	HRH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079994.1	NM_007232		A	60791451	G	A	60791451	3	1	734	1	0	0	0	0	1	0	0	0	7359	1203	42	2	392	2	HRH3	20	60791451	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	2891984	60791451	2234069	1028	42447											
C20orf20	55257	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	20	61429984	61429984	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:61429984G>A	ENST00000370487.3	+	3	387	c.316G>A	c.(316-318)Gtc>Atc	p.V106I	OGFR-AS1_ENST00000431361.1_RNA	NM_018270.4	NP_060740.1	Q9NV56	MRGBP_HUMAN	MRG/MORF4L binding protein	106					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)											GAGGAACTTCGTCCTTCCAGA	0.483																																																0													142	141	142					20																	61429984		2203	4300	6503	SO:0001583	missense	55257			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.316G>A	20.37:g.61429984G>A	ENSP00000359518:p.Val106Ile		A8C4L5	Missense_Mutation	SNP	ENST00000370487.3	37	CCDS13503.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.089004	0.36855	.	.	ENSG00000101189	ENST00000370487	.	.	.	5.16	2.97	0.34412	.	0.301114	0.36893	N	0.002358	T	0.12263	0.0298	N	0.01482	-0.84	0.28329	N	0.921897	B	0.15473	0.013	B	0.12156	0.007	T	0.11665	-1.0578	9	0.33940	T	0.23	-21.2312	6.3757	0.21505	0.429:0.0:0.571:0.0	.	106	Q9NV56	MRGBP_HUMAN	I	106	.	ENSP00000359518:V106I	V	+	1	0	C20orf20	60900429	0.982000	0.34865	0.993000	0.49108	0.989000	0.77384	1.498000	0.35660	1.154000	0.42482	0.561000	0.74099	GTC		0.483	MRGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080080.1	NM_018270		A	61429984	G	A	61429984	3	1	734	1	0	0	0	0	1	0	0	0	2105	1145	40	1	326	1	C20orf20	20	61429984	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	638533	61429984	1595536	1029	42448											
NKAIN4	128414	broad.mit.edu;mdanderson.org	37	20	61878938	61878938	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:61878938G>A	ENST00000370316.3	-	4	552	c.463C>T	c.(463-465)Ctg>Ttg	p.L155L	NKAIN4_ENST00000466885.1_5'UTR|NKAIN4_ENST00000370313.1_Silent_p.L93L|NKAIN4_ENST00000370307.2_Silent_p.L93L	NM_152864.3	NP_690603.3	Q8IVV8	NKAI4_HUMAN	Na+/K+ transporting ATPase interacting 4	155						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|lung(1)|ovary(1)	4	all_cancers(38;2.72e-09)					ACCGCGATCAGGATCTGCAGG	0.701																																																0													19	17	18					20																	61878938		1898	3620	5518	SO:0001819	synonymous_variant	128414			BC041812	CCDS13514.1	20q13.33	2007-10-04	2007-10-04	2007-10-04	ENSG00000101198	ENSG00000101198		"Na+/K+ transporting ATPase interacting"	16191	protein-coding gene	gene with protein product		612873	"chromosome 20 open reading frame 58"	C20orf58		17606467	Standard	NM_152864		Approved	bA261N11.2, FAM77A	uc002yek.3	Q8IVV8	OTTHUMG00000032959	ENST00000370316.3:c.463C>T	20.37:g.61878938G>A			Q4VXQ6|Q9BQU8|Q9BQU9	Silent	SNP	ENST00000370316.3	37	CCDS13514.1																																																																																				0.701	NKAIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080117.3	NM_152864		A	61878938	G	A	61878938	2	1	734	1	0	0	0	0	0	0	0	1	10440	991	35	2		2	NKAIN4	20	61878938	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	448954	61878938	1146582	1030	42449											
CHRNA4	1137	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	20	61981545	61981545	+	Silent	SNP	C	C	T	rs200528988		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:61981545C>T	ENST00000370263.4	-	5	1439	c.1218G>A	c.(1216-1218)ccG>ccA	p.P406P	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)	406					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)	CACAGAAGGACGGTGAGGGCG	0.672																																																0													15	14	15					20																	61981545		2191	4283	6474	SO:0001819	synonymous_variant	1137				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.1218G>A	20.37:g.61981545C>T			Q4JGR7|Q4VAQ5|Q4VAQ6	Silent	SNP	ENST00000370263.4	37	CCDS13517.1																																																																																				0.672	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080508.3			T	61981545	C	T	61981545	2	4	734	1	0	0	0	0	0	0	0	1	3387	523	19	1		1	CHRNA4	20	61981545	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	102607	61981545	1043975	1031	42450											
KCNQ2	3785	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	20	62065203	62065203	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:62065203C>T	ENST00000359125.2	-	8	1251	c.1077G>A	c.(1075-1077)acG>acA	p.T359T	KCNQ2_ENST00000344462.4_Silent_p.T359T|KCNQ2_ENST00000482957.1_5'UTR|KCNQ2_ENST00000360480.3_Silent_p.T359T|KCNQ2_ENST00000354587.3_Silent_p.T359T|KCNQ2_ENST00000344425.5_Silent_p.T359T|KCNQ2_ENST00000359689.1_Silent_p.T359T|KCNQ2_ENST00000357249.2_Silent_p.T359T|KCNQ2_ENST00000370224.1_Silent_p.T359T	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	359					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	AGTACTGCCACGTGGAGTGCA	0.592																																																0													136	112	120					20																	62065203		2203	4300	6503	SO:0001819	synonymous_variant	3785			AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.1077G>A	20.37:g.62065203C>T			O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Silent	SNP	ENST00000359125.2	37	CCDS13520.1																																																																																				0.592	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080353.1	NM_172109		T	62065203	C	T	62065203	2	4	734	1	0	0	0	0	0	0	0	1	8085	523	19	1		1	KCNQ2	20	62065203	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	83658	62065203	960317	1032	42451											
C20orf195	79025	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	20	62187191	62187191	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:62187191C>T	ENST00000370098.3	+	2	267	c.175C>T	c.(175-177)Cac>Tac	p.H59Y	C20orf195_ENST00000370097.1_Missense_Mutation_p.H59Y	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	chromosome 20 open reading frame 195	59						extracellular vesicular exosome (GO:0070062)				large_intestine(3)|lung(4)	7	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)			CCTGAGTCCGCACCTGCTCAA	0.647																																																0													60	54	56					20																	62187191		2203	4300	6503	SO:0001583	missense	79025				CCDS13526.1	20q13.33	2014-02-12			ENSG00000125531	ENSG00000125531			28764	protein-coding gene	gene with protein product						12477932	Standard	NM_024059		Approved	MGC5356	uc002yfj.3	Q9BVV2	OTTHUMG00000032980	ENST00000370098.3:c.175C>T	20.37:g.62187191C>T	ENSP00000359116:p.His59Tyr			Missense_Mutation	SNP	ENST00000370098.3	37	CCDS13526.1	.	.	.	.	.	.	.	.	.	.	C	9.739	1.164239	0.21538	.	.	ENSG00000125531	ENST00000370098;ENST00000370097	.	.	.	5.26	4.31	0.51392	.	0.121992	0.36303	N	0.002662	T	0.26846	0.0657	N	0.24115	0.695	0.24081	N	0.995942	P	0.45176	0.852	B	0.43783	0.431	T	0.09930	-1.0652	9	0.66056	D	0.02	-28.4762	8.4646	0.32949	0.1533:0.7689:0.0:0.0778	.	59	Q9BVV2	CT195_HUMAN	Y	59	.	ENSP00000359115:H59Y	H	+	1	0	C20orf195	61657635	0.306000	0.24490	0.489000	0.27452	0.313000	0.28021	2.399000	0.44495	1.203000	0.43233	0.655000	0.94253	CAC		0.647	C20orf195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080155.1	NM_024059		T	62187191	C	T	62187191	3	4	734	1	0	0	0	0	1	0	0	0	2102	710	25	2	177	2	C20orf195	20	62187191	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	121988	62187191	838329	1033	42452											
PRIC285	85441	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	20	62200925	62200925	+	Missense_Mutation	SNP	G	G	A	rs371600411	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:62200925G>A	ENST00000467148.1	-	4	733	c.664C>T	c.(664-666)Cgg>Tgg	p.R222W	HELZ2_ENST00000427522.2_5'Flank|HELZ2_ENST00000479540.1_5'Flank	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	222					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)										CGCTCACCCCGTGCGTAGAGC	0.667													G|||	3	0.000599042	0.0023	0.0	5008	,	,		16090	0.0		0.0	False		,,,				2504	0.0															0								G	TRP/ARG	1,4335		0,1,2167	13	14	14		664	-3.5	0	20		14	0,8544		0,0,4272	no	missense	PRIC285	NM_001037335.2	101	0,1,6439	AA,AG,GG		0.0,0.0231,0.0078	probably-damaging	222/2650	62200925	1,12879	2168	4272	6440	SO:0001583	missense	85441			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.664C>T	20.37:g.62200925G>A	ENSP00000417401:p.Arg222Trp		Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	G	7.374	0.627323	0.14257	2.31E-4	0.0	ENSG00000130589	ENST00000467148	T	0.02472	4.28	4.5	-3.51	0.04696	.	2.574830	0.01368	N	0.012460	T	0.02688	0.0081	L	0.36672	1.1	0.09310	N	1	D	0.61080	0.989	B	0.40534	0.332	T	0.35051	-0.9804	10	0.72032	D	0.01	-1.2993	2.2691	0.04086	0.1313:0.3039:0.2558:0.309	.	222	Q9BYK8	PR285_HUMAN	W	222	ENSP00000417401:R222W	ENSP00000417401:R222W	R	-	1	2	RP4-697K14.7	61671369	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.170000	0.09897	-1.144000	0.02862	0.563000	0.77884	CGG		0.667	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		A	62200925	G	A	62200925	3	1	734	1	0	0	0	0	1	0	0	0	12490	1144	40	1	7372	1	PRIC285	20	62200925	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	13734	62200925	824595	1034	42453											
RTEL1	51750	mdanderson.org	37	20	62322288	62322288	+	Silent	SNP	T	T	C	rs3208007	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:62322288T>C	ENST00000360203.5	+	27	2869	c.2544T>C	c.(2542-2544)ccT>ccC	p.P848P	RTEL1_ENST00000318100.4_Silent_p.P848P|RTEL1_ENST00000370018.3_Silent_p.P848P|RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.P848P|RTEL1_ENST00000508582.2_Silent_p.P872P|RTEL1_ENST00000370003.1_Silent_p.P93P					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)			CGGGGAGCCCTGGCGAGGAGC	0.692													C|||	3596	0.718051	0.9735	0.7161	5008	,	,		14969	0.2907		0.7952	False		,,,				2504	0.7352															0								C	,	3922,276		1840,242,17	15	16	16		2544,2616	-2	0	20	dbSNP_105	16	6536,1786		2569,1398,194	no	coding-synonymous,coding-synonymous	RTEL1	NM_016434.3,NM_032957.4	,	4409,1640,211	CC,CT,TT		21.4612,6.5746,16.4696	,	848/1220,872/1244	62322288	10458,2062	2099	4161	6260	SO:0001819	synonymous_variant	51750			AB029011	CCDS13530.2, CCDS13531.1, CCDS13530.3, CCDS63331.1, CCDS74751.1	20q13.3	2012-06-27	2004-10-29	2004-10-29	ENSG00000258366	ENSG00000258366			15888	protein-coding gene	gene with protein product		608833	"chromosome 20 open reading frame 41"	C20orf41		10655513, 15210109	Standard	NM_016434		Approved	bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL	uc011abd.2	Q9NZ71	OTTHUMG00000032992	ENST00000360203.5:c.2544T>C	20.37:g.62322288T>C				Silent	SNP	ENST00000360203.5	37																																																																																					0.692	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000289781.1	NM_032957		C	62322288	T	C	62322288	2	2	734	1	0	0	0	0	0	0	0	1	13726	1567	55	3		3	RTEL1	20	62322288	Silent	SNP	T	TCGA-KN-8428-01A-11D-2310-10	121363	62322288	703232	1035	42454											
UCKL1	54963	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	20	62571654	62571654	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:62571654G>A	ENST00000354216.6	-	14	1458	c.1416C>T	c.(1414-1416)caC>caT	p.H472H	UCKL1_ENST00000358711.3_3'UTR|UCKL1_ENST00000369892.3_Silent_p.H472H|MIR1914_ENST00000607800.1_RNA|MIR647_ENST00000384823.1_RNA|UCKL1_ENST00000369908.5_Silent_p.H457H	NM_017859.3	NP_060329.2	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	472					CTP salvage (GO:0044211)|UMP salvage (GO:0044206)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|uridine kinase activity (GO:0004849)			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CAGGCACGTCGTGGTCCTACC	0.577																																																0													114	89	97					20																	62571654		2198	4292	6490	SO:0001819	synonymous_variant	54963			AK000524	CCDS13547.1, CCDS54479.1	20q13.33	2012-09-20	2004-07-13	2004-07-13	ENSG00000198276	ENSG00000198276			15938	protein-coding gene	gene with protein product		610866	"uridine kinase-like 1"	URKL1			Standard	NM_017859		Approved	FLJ20517	uc010gkn.3	Q9NWZ5	OTTHUMG00000033003	ENST00000354216.6:c.1416C>T	20.37:g.62571654G>A			B7Z8N2|Q5JWV0|Q70AQ5|Q8N524|Q9H3Z2	Silent	SNP	ENST00000354216.6	37	CCDS13547.1																																																																																				0.577	UCKL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080236.1	NM_017859		A	62571654	G	A	62571654	2	1	734	1	0	0	0	0	0	0	0	1	16930	1136	40	1		1	UCKL1	20	62571654	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	249366	62571654	453866	1036	42455											
ZNF512B	57473	broad.mit.edu;ucsc.edu;mdanderson.org	37	20	62598240	62598240	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:62598240G>A	ENST00000450537.1	-	4	442	c.382C>T	c.(382-384)Cgg>Tgg	p.R128W	ZNF512B_ENST00000369888.1_Missense_Mutation_p.R128W|ZNF512B_ENST00000217130.3_Missense_Mutation_p.R128W			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	128					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)					CCTTGGCACCGCTGGTAATGG	0.612																																																0													106	93	98					20																	62598240		2203	4300	6503	SO:0001583	missense	57473			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.382C>T	20.37:g.62598240G>A	ENSP00000393795:p.Arg128Trp		Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.976442	0.92982	.	.	ENSG00000196700	ENST00000369888;ENST00000450537;ENST00000217130	T;T;T	0.39056	1.1;1.1;1.1	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.54303	0.1850	L	0.29908	0.895	0.51482	D	0.999921	D	0.89917	1.0	D	0.91635	0.999	T	0.58364	-0.7649	10	0.87932	D	0	-24.539	17.032	0.86463	0.0:0.0:1.0:0.0	.	128	Q96KM6	Z512B_HUMAN	W	128	ENSP00000358904:R128W;ENSP00000393795:R128W;ENSP00000217130:R128W	ENSP00000217130:R128W	R	-	1	2	ZNF512B	62068684	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.065000	0.93941	2.451000	0.82905	0.585000	0.79938	CGG		0.612	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		A	62598240	G	A	62598240	3	1	734	1	0	0	0	0	1	0	0	0	17962	1086	38	1	2352	1	ZNF512B	20	62598240	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	26586	62598240	427280	1037	42456											
RNF160	26046	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	21	30307615	30307615	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr21:30307615G>A	ENST00000361371.5	-	27	4770	c.4691C>T	c.(4690-4692)gCt>gTt	p.A1564V	LTN1_ENST00000389194.2_Missense_Mutation_p.A1610V			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	1564					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						GACTGAACAAGCCAAGTGTGG	0.333																																																0													92	80	84					21																	30307615		2203	4300	6503	SO:0001583	missense	26046			AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"RING-type (C3HC4) zinc fingers"	13082	protein-coding gene	gene with protein product	"listerin"	613083	"chromosome 21 open reading frame 98", "zinc finger protein 294", "ring finger protein 160"	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.4691C>T	21.37:g.30307615G>A	ENSP00000354977:p.Ala1564Val		A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	ENST00000361371.5	37		.	.	.	.	.	.	.	.	.	.	G	29.1	4.977803	0.92982	.	.	ENSG00000198862	ENST00000389194;ENST00000361371	T;T	0.24538	1.85;1.86	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.44891	0.1315	L	0.41824	1.3	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.25572	-1.0128	10	0.54805	T	0.06	.	19.0456	0.93018	0.0:0.0:1.0:0.0	.	1564	O94822	LTN1_HUMAN	V	1610;1564	ENSP00000373846:A1610V;ENSP00000354977:A1564V	ENSP00000354977:A1564V	A	-	2	0	LTN1	29229486	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.657000	0.98554	2.738000	0.93877	0.591000	0.81541	GCT		0.333	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565		A	30307615	G	A	30307615	3	1	734	1	0	0	0	0	1	0	0	0	13461	971	34	2	625	2	RNF160	21	30307615	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10		30307615	17822280	1038	42457											
ITSN1	6453	ucsc.edu;mdanderson.org;bcgsc.ca	37	21	35260567	35260567	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr21:35260567T>C	ENST00000381318.3	+	40	5417	c.5129T>C	c.(5128-5130)gTg>gCg	p.V1710A	ITSN1_ENST00000399367.3_Missense_Mutation_p.V1705A|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000437442.2_Missense_Mutation_p.V1649A|ITSN1_ENST00000381285.4_Missense_Mutation_p.V1710A|AP000304.12_ENST00000429238.1_Intron	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1710					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						GGAGAGATTGTGGTCCGCTTG	0.592																																																0													68	60	63					21																	35260567		2203	4300	6503	SO:0001583	missense	6453			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.5129T>C	21.37:g.35260567T>C	ENSP00000370719:p.Val1710Ala		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	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	T	19.92	3.916719	0.73098	.	.	ENSG00000205726	ENST00000381318;ENST00000381285;ENST00000381288;ENST00000399367;ENST00000437442	T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25	5.65	5.65	0.86999	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.73892	0.3645	L	0.38175	1.15	0.80722	D	1	D;D;D	0.71674	0.998;0.994;0.994	D;D;D	0.75484	0.986;0.97;0.97	T	0.71407	-0.4602	10	0.29301	T	0.29	.	15.8787	0.79185	0.0:0.0:0.0:1.0	.	1649;1705;1710	A8CTY3;A8CTX8;Q15811	.;.;ITSN1_HUMAN	A	1710;1710;1639;1705;1649	ENSP00000370719:V1710A;ENSP00000370685:V1710A;ENSP00000382301:V1705A;ENSP00000387377:V1649A	ENSP00000370685:V1710A	V	+	2	0	ITSN1	34182437	1.000000	0.71417	0.997000	0.53966	0.960000	0.62799	7.671000	0.83941	2.139000	0.66308	0.533000	0.62120	GTG		0.592	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		C	35260567	T	C	35260567	3	2	734	1	0	0	0	0	1	0	0	0	7928	1696	59	3	5289	3	ITSN1	21	35260567	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	4952952	35260567	12869328	1039	42458											
KCNE1	3753	mdanderson.org	37	21	35821711	35821711	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr21:35821711C>T	ENST00000337385.3	-	3	597	c.222G>A	c.(220-222)tcG>tcA	p.S74S	KCNE1_ENST00000399284.1_Silent_p.S74S|KCNE1_ENST00000416357.2_Silent_p.S74S|KCNE1_ENST00000399289.3_Silent_p.S74S|KCNE1_ENST00000432085.1_Silent_p.S74S|KCNE1_ENST00000399286.2_Silent_p.S74S	NM_001270402.1|NM_001270403.1	NP_001257331.1|NP_001257332.1	P15382	KCNE1_HUMAN	potassium voltage-gated channel, Isk-related family, member 1	74			S -> L (in LQT5). {ECO:0000269|PubMed:9354802}.		cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular response to cAMP (GO:0071320)|membrane repolarization (GO:0086009)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|protein N-linked glycosylation (GO:0006487)|protein O-linked glycosylation (GO:0006493)|regulation of delayed rectifier potassium channel activity (GO:1902259)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sensory perception of sound (GO:0007605)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	potassium channel regulator activity (GO:0015459)|telethonin binding (GO:0031433)|voltage-gated potassium channel activity (GO:0005249)			large_intestine(4)|lung(1)|ovary(2)	7					Indapamide(DB00808)	ATGGGTCGTTCGAGTGCTCCA	0.572																																																0													95	81	86					21																	35821711		2203	4300	6503	SO:0001819	synonymous_variant	3753			L28168	CCDS13636.1	21q22.1-q22.2	2014-09-17			ENSG00000180509	ENSG00000180509		"Potassium channels"	6240	protein-coding gene	gene with protein product		176261				8432548	Standard	NM_001127670		Approved	minK, ISK, JLNS2, LQT5	uc010gmp.4	P15382	OTTHUMG00000086236	ENST00000337385.3:c.222G>A	21.37:g.35821711C>T			A5H1P2|Q8N709|Q91Z94	Silent	SNP	ENST00000337385.3	37	CCDS13636.1																																																																																				0.572	KCNE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194155.1			T	35821711	C	T	35821711	2	4	734	1	0	0	0	0	0	0	0	1	8023	871	31	1		1	KCNE1	21	35821711	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	561144	35821711	12308184	1040	42459											
IGSF5	150084	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	21	41151173	41151173	+	Missense_Mutation	SNP	G	G	A	rs199672249		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr21:41151173G>A	ENST00000380588.4	+	5	978	c.875G>A	c.(874-876)cGt>cAt	p.R292H	IGSF5_ENST00000479378.1_3'UTR	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	292	Cys-rich.				single organismal cell-cell adhesion (GO:0016337)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				tgctgccgccgtcgttgttgt	0.463													-|||	1	0.000199681	0.0	0.0	5008	,	,		16702	0.0		0.001	False		,,,				2504	0.0															0								G	HIS/ARG	1,4405		0,1,2202	55	53	54		875	-2.3	0	21		54	2,8598		0,2,4298	no	missense	IGSF5	NM_001080444.1	29	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	benign	292/408	41151173	3,13003	2203	4300	6503	SO:0001583	missense	150084				CCDS33562.1	21q22.2	2013-01-29			ENSG00000183067	ENSG00000183067		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5952	protein-coding gene	gene with protein product	"junctional adhesion molecule 4"	610638					Standard	NM_001080444		Approved	JAM4	uc002yyo.3	Q9NSI5	OTTHUMG00000086724	ENST00000380588.4:c.875G>A	21.37:g.41151173G>A	ENSP00000369962:p.Arg292His			Missense_Mutation	SNP	ENST00000380588.4	37	CCDS33562.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	-	10.72	1.429696	0.25726	2.27E-4	2.33E-4	ENSG00000183067	ENST00000380588	T	0.06768	3.26	4.24	-2.27	0.06846	.	.	.	.	.	T	0.03390	0.0098	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.41538	-0.9503	9	0.72032	D	0.01	.	1.1088	0.01700	0.4273:0.1665:0.2534:0.1528	.	292	Q9NSI5	IGSF5_HUMAN	H	292	ENSP00000369962:R292H	ENSP00000369962:R292H	R	+	2	0	IGSF5	40073043	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.137000	0.15995	-0.476000	0.06842	-0.140000	0.14226	CGT		0.463	IGSF5-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195005.1			A	41151173	G	A	41151173	3	1	734	1	0	0	0	0	1	0	0	0	7604	1145	40	1	893	1	IGSF5	21	41151173	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	5329462	41151173	6978722	1041	42460											
UMODL1	89766	mdanderson.org	37	21	43531403	43531403	+	Intron	SNP	C	C	G	rs220127	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr21:43531403C>G	ENST00000408910.2	+	11	1899				UMODL1_ENST00000400424.2_Intron|C21orf128_ENST00000329015.2_5'Flank|UMODL1_ENST00000408989.2_Missense_Mutation_p.R691G|UMODL1_ENST00000400427.1_Missense_Mutation_p.R619G	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1						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						CCCCAGCCAGCGGAGCACCAG	0.731													G|||	3619	0.722644	0.4304	0.8343	5008	,	,		9993	0.881		0.8062	False		,,,				2504	0.7894				Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)											0								-	,GLY/ARG,,GLY/ARG	2088,1402		642,804,299	4	7	6		,1855,,2071	-3.3	0	21	dbSNP_79	6	6286,1428		2593,1100,164	no	intron,missense,intron,missense	UMODL1	NM_001004416.2,NM_001199527.1,NM_001199528.2,NM_173568.3	,125,,125	3235,1904,463	GG,GC,CC		18.5118,40.1719,25.2588	,benign,,benign	,619/1375,,691/1447	43531403	8374,2830	1745	3857	5602	SO:0001627	intron_variant	89766				CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"olfactorin"	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.1899+172C>G	21.37:g.43531403C>G			C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	ENST00000408910.2	37	CCDS42936.1	1618	0.7408424908424909	212	0.43089430894308944	295	0.8149171270718232	490	0.8566433566433567	621	0.8192612137203166	G	2.002	-0.429238	0.04701	0.598281	0.814882	ENSG00000177398	ENST00000400427;ENST00000408989	T;T	0.71461	-0.57;-0.37	2.16	-3.33	0.04958	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.34004	-0.9846	7	0.19590	T	0.45	.	2.0086	0.03482	0.2061:0.4652:0.166:0.1626	rs220127;rs520946	691	Q5DID0-2	.	G	619;691	ENSP00000383279:R619G;ENSP00000386126:R691G	ENSP00000383279:R619G	R	+	1	2	UMODL1	42404472	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.665000	0.05286	-1.264000	0.02452	-1.000000	0.02509	CGG		0.731	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			G	43531403	C	G	43531403	1	3	734	0	1	0	0	0	0	0	0	0	16985	759	27	4		4	UMODL1	21	43531403	Intron	SNP	C	TCGA-KN-8428-01A-11D-2310-10	2380230	43531403	4598492	1042	42461											
CCT8L2	150160	broad.mit.edu;mdanderson.org;bcgsc.ca	37	22	17072519	17072519	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:17072519C>T	ENST00000359963.3	-	1	1181	c.922G>A	c.(922-924)Gac>Aac	p.D308N		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	308					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)				CCATACTTGTCCGCCAGTGTG	0.532																																																0													189	167	174					22																	17072519		2203	4300	6503	SO:0001583	missense	150160			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.922G>A	22.37:g.17072519C>T	ENSP00000353048:p.Asp308Asn		A4QPH3|Q9UJS3	Missense_Mutation	SNP	ENST00000359963.3	37	CCDS13738.1	.	.	.	.	.	.	.	.	.	.	c	0.023	-1.400013	0.01165	.	.	ENSG00000198445	ENST00000359963	T	0.77358	-1.09	1.98	1.98	0.26296	.	0.178508	0.26457	N	0.024274	T	0.43700	0.1259	N	0.02158	-0.66	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.41928	-0.9481	10	0.02654	T	1	-16.9039	7.4423	0.27190	0.0:1.0:0.0:0.0	.	308	Q96SF2	TCPQM_HUMAN	N	308	ENSP00000353048:D308N	ENSP00000353048:D308N	D	-	1	0	CCT8L2	15452519	0.128000	0.22383	0.002000	0.10522	0.007000	0.05969	1.637000	0.37155	1.115000	0.41800	0.379000	0.24179	GAC		0.532	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			T	17072519	C	T	17072519	3	4	734	1	0	0	0	0	1	0	0	0	2963	855	30	2	755	2	CCT8L2	22	17072519	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10		17072519	34232047	1043	42462											
PRODH	5625	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	22	18912624	18912624	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:18912624C>T	ENST00000357068.6	-	4	872	c.607G>A	c.(607-609)Gcc>Acc	p.A203T	PRODH_ENST00000420436.1_Missense_Mutation_p.A95T|PRODH_ENST00000334029.2_Missense_Mutation_p.A95T	NM_016335.4	NP_057419	O43272	PROD_HUMAN	proline dehydrogenase (oxidase) 1	203					4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)	FAD binding (GO:0071949)|proline dehydrogenase activity (GO:0004657)			breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1)	9					L-Proline(DB00172)	GCCTCATTGGCGTAGAAGTAG	0.597																																																0													136	117	124					22																	18912624		2203	4300	6503	SO:0001583	missense	5625			AF010310	CCDS13754.1, CCDS56223.1	22q11.2	2014-07-10	2001-12-05		ENSG00000100033	ENSG00000100033	1.5.5.2		9453	protein-coding gene	gene with protein product		606810	"proline dehydrogenase (proline oxidase )"			9385373, 10192398	Standard	NM_001195226		Approved	HSPOX2, PRODH1, PIG6, PRODH2, TP53I6	uc002zok.4	O43272	OTTHUMG00000150163	ENST00000357068.6:c.607G>A	22.37:g.18912624C>T	ENSP00000349577:p.Ala203Thr		A6NF53|O14680|Q0P507|Q147W8|Q504W1|Q59FI8|Q6NV86|Q9UF13	Missense_Mutation	SNP	ENST00000357068.6	37	CCDS13754.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	23.7|23.7	4.447846|4.447846	0.84101|0.84101	.|.	.|.	ENSG00000100033|ENSG00000100033	ENST00000357068;ENST00000438924;ENST00000450579|ENST00000457083	T;T|.	0.75938|.	-0.98;-0.98|.	5.03|5.03	5.03|5.03	0.67393|0.67393	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69593|0.69593	0.3128|0.3128	L|L	0.55990|0.55990	1.75|1.75	0.58432|0.58432	D|D	0.999999|0.999999	D;P;P|.	0.55385|.	0.971;0.95;0.87|.	B;B;B|.	0.40165|.	0.321;0.265;0.184|.	T|T	0.67436|0.67436	-0.5671|-0.5671	10|5	0.28530|.	T|.	0.3|.	-18.4529|-18.4529	16.2912|16.2912	0.82752|0.82752	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	119;203;95|.	O43272-1;O43272;E7EQL6|.	.;PROD_HUMAN;.|.	T|H	203;85;44|126	ENSP00000349577:A203T;ENSP00000396806:A44T|.	ENSP00000334726:A95T|.	A|R	-|-	1|2	0|0	PRODH|PRODH	17292624|17292624	0.997000|0.997000	0.39634|0.39634	0.995000|0.995000	0.50966|0.50966	0.847000|0.847000	0.48162|0.48162	4.493000|4.493000	0.60341|0.60341	2.528000|2.528000	0.85240|0.85240	0.450000|0.450000	0.29827|0.29827	GCC|CGC		0.597	PRODH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316637.2	NM_016335		T	18912624	C	T	18912624	3	4	734	1	0	0	0	0	1	0	0	0	12553	768	27	1	1239	1	PRODH	22	18912624	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1840105	18912624	32391942	1044	42463											
SEPT5	5413	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	22	19707904	19707904	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:19707904G>A	ENST00000455784.2	+	6	549	c.424G>A	c.(424-426)Ggc>Agc	p.G142S	GP1BB_ENST00000366425.3_5'Flank|SEPT5_ENST00000406395.1_Missense_Mutation_p.G142S|SEPT5_ENST00000438754.2_Missense_Mutation_p.G151S|SEPT5_ENST00000383045.3_Missense_Mutation_p.G151S	NM_002688.5	NP_002679.2	Q99719	SEPT5_HUMAN	septin 5	142	Septin-type G.				cytokinesis (GO:0000910)|GTP catabolic process (GO:0006184)|regulation of exocytosis (GO:0017157)|regulation of synaptic vesicle exocytosis (GO:2000300)|synaptic vesicle targeting (GO:0016080)	plasma membrane (GO:0005886)|septin complex (GO:0031105)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					TGATGAGAGCGGCCTCAACCG	0.597																																																0													158	142	147					22																	19707904		2203	4300	6503	SO:0001583	missense	5413			Y11593	CCDS13764.1, CCDS56224.1	22q11.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000184702	ENSG00000184702		"Septins"	9164	protein-coding gene	gene with protein product		602724	"peanut-like 1 (Drosophila)"	PNUTL1		9385360, 9611266	Standard	NM_002688		Approved	HCDCREL-1, H5		Q99719	OTTHUMG00000150399	ENST00000455784.2:c.424G>A	22.37:g.19707904G>A	ENSP00000391311:p.Gly142Ser		O15251|Q96MY5	Missense_Mutation	SNP	ENST00000455784.2	37	CCDS13764.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.9|29.9	5.046567|5.046567	0.93740|0.93740	.|.	.|.	ENSG00000184702|ENSG00000184702	ENST00000455784;ENST00000406395;ENST00000446882;ENST00000412544;ENST00000431124;ENST00000383045;ENST00000438754;ENST00000395109|ENST00000413258	T;T;T;T;T;T;T|.	0.50548|.	0.74;0.74;0.74;0.74;0.74;0.74;0.74|.	3.88|3.88	3.88|3.88	0.44766|0.44766	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73628|0.73628	0.3611|0.3611	M|M	0.72624|0.72624	2.21|2.21	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.85130|.	0.997|.	T|T	0.75340|0.75340	-0.3352|-0.3352	10|5	0.66056|.	D|.	0.02|.	.|.	16.403|16.403	0.83649|0.83649	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	142|.	Q99719|.	SEPT5_HUMAN|.	S|Q	142;142;113;95;180;151;151;95|38	ENSP00000391311:G142S;ENSP00000384535:G142S;ENSP00000408678:G95S;ENSP00000414488:G180S;ENSP00000372515:G151S;ENSP00000394541:G151S;ENSP00000378541:G95S|.	ENSP00000372515:G151S|.	G|R	+|+	1|2	0|0	SEPT5|SEPT5	18087904|18087904	1.000000|1.000000	0.71417|0.71417	0.964000|0.964000	0.40570|0.40570	0.765000|0.765000	0.43378|0.43378	7.612000|7.612000	0.82975|0.82975	2.154000|2.154000	0.67381|0.67381	0.462000|0.462000	0.41574|0.41574	GGC|CGG		0.597	SEPT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317937.1	NM_002688		A	19707904	G	A	19707904	3	1	734	1	0	0	0	0	1	0	0	0	14073	1116	39	1	446	1	SEPT5	22	19707904	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	795280	19707904	31596662	1045	42464											
C22orf29	79680	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	22	19839716	19839716	+	Silent	SNP	G	G	A	rs376068168		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:19839716G>A	ENST00000405640.1	-	2	737	c.69C>T	c.(67-69)aaC>aaT	p.N23N	C22orf29_ENST00000484072.1_Intron|GNB1L_ENST00000460402.1_Intron|C22orf29_ENST00000328554.4_Silent_p.N23N|C22orf29_ENST00000407472.1_Silent_p.N23N|GNB1L_ENST00000403325.1_Intron|GNB1L_ENST00000329517.6_Intron|GNB1L_ENST00000405009.1_Intron			Q7L3V2	BOP_HUMAN	chromosome 22 open reading frame 29	23					mitochondrial outer membrane permeabilization (GO:0097345)|regulation of mitochondrial membrane potential (GO:0051881)	mitochondrion (GO:0005739)				NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7	Colorectal(54;0.0993)					ATGGATGTGCGTTGGCATAAT	0.642																																																0								G	,	0,4406		0,0,2203	81	76	78		69,	-7.4	0	22		78	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,intron	GNB1L,C22orf29	NM_024627.5,NM_053004.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	23/365,	19839716	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79680			BX640998	CCDS13769.1	22q11.21	2006-07-05			ENSG00000215012	ENSG00000215012			26112	protein-coding gene	gene with protein product						12477932	Standard	NM_024627		Approved	FLJ21125	uc002zqh.3	Q7L3V2	OTTHUMG00000030314	ENST00000405640.1:c.69C>T	22.37:g.19839716G>A			A8K5E7|D3DX21|Q6MZM8|Q6N000|Q9H7A0	Silent	SNP	ENST00000405640.1	37	CCDS13769.1																																																																																				0.642	C22orf29-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317290.2	NM_024627		A	19839716	G	A	19839716	2	1	734	1	0	0	0	0	0	0	0	1	2143	1136	40	1		1	C22orf29	22	19839716	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	131812	19839716	31464850	1046	42465											
PI4KA	5297	broad.mit.edu;mdanderson.org	37	22	21082095	21082095	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:21082095C>T	ENST00000572273.1	-	40	4796	c.4566G>A	c.(4564-4566)ccG>ccA	p.P1522P	PI4KA_ENST00000414196.3_Silent_p.P332P|AC007308.6_ENST00000430719.1_RNA|PI4KA_ENST00000255882.6_Silent_p.P1580P			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1522	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)			TAACGGCTCCCGGGTCCAACC	0.542																																					GBM(136;1332 1831 3115 23601 50806)											0													135	106	116					22																	21082095		2203	4300	6503	SO:0001819	synonymous_variant	5297			L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.4566G>A	22.37:g.21082095C>T			Q7Z625|Q9UPG2	Silent	SNP	ENST00000572273.1	37																																																																																					0.542	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		T	21082095	C	T	21082095	2	4	734	1	0	0	0	0	0	0	0	1	11875	639	23	1		1	PI4KA	22	21082095	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1242379	21082095	30222471	1047	42466											
ZNF280A	129025	broad.mit.edu;bcgsc.ca	37	22	22868961	22868961	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:22868961C>T	ENST00000302097.3	-	2	1246	c.994G>A	c.(994-996)Gac>Aac	p.D332N		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	332					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)		GTGGTGTGGTCTTCCCAGCTG	0.478																																																0													146	130	136					22																	22868961		2203	4300	6503	SO:0001583	missense	129025			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.994G>A	22.37:g.22868961C>T	ENSP00000302855:p.Asp332Asn			Missense_Mutation	SNP	ENST00000302097.3	37	CCDS13800.1	.	.	.	.	.	.	.	.	.	.	c	0.591	-0.832942	0.02713	.	.	ENSG00000169548	ENST00000302097	T	0.01092	5.35	3.9	-1.13	0.09775	.	.	.	.	.	T	0.00412	0.0013	N	0.00538	-1.39	0.09310	N	0.99999	B	0.02656	0.0	B	0.01281	0.0	T	0.44314	-0.9336	9	0.12430	T	0.62	0.3313	6.2591	0.20889	0.0:0.0988:0.2772:0.624	.	332	P59817	Z280A_HUMAN	N	332	ENSP00000302855:D332N	ENSP00000302855:D332N	D	-	1	0	ZNF280A	21198961	0.996000	0.38824	0.113000	0.21522	0.730000	0.41778	2.624000	0.46444	-0.274000	0.09232	-1.044000	0.02363	GAC		0.478	ZNF280A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075433.3	NM_080740		T	22868961	C	T	22868961	3	4	734	1	0	0	0	0	1	0	0	0	17819	913	32	2	638	2	ZNF280A	22	22868961	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1786866	22868961	28435605	1048	42467											
IGLL5	100423062	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	22	23230424	23230424	+	Missense_Mutation	SNP	G	G	A	rs534077784	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:23230424G>A	ENST00000526893.1	+	1	465	c.191G>A	c.(190-192)cGg>cAg	p.R64Q	IGLL5_ENST00000532223.2_Missense_Mutation_p.R64Q|hsa-mir-5571_ENST00000577998.1_RNA|IGLL5_ENST00000531372.1_Missense_Mutation_p.R64Q	NM_001178126.1	NP_001171597.1	B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	64						extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						TCCAGCCTGCGGAGCCTGTGG	0.647													G|||	2	0.000399361	0.0015	0.0	5008	,	,		11770	0.0		0.0	False		,,,				2504	0.0															0																																										SO:0001583	missense	100423062			M34518, M34515	CCDS54506.1	22q11.22	2013-01-11			ENSG00000254709	ENSG00000254709		"Immunoglobulin superfamily / C1-set domain containing"	38476	protein-coding gene	gene with protein product							Standard	NM_001178126		Approved		uc010gtu.3	B9A064	OTTHUMG00000165670	ENST00000526893.1:c.191G>A	22.37:g.23230424G>A	ENSP00000431254:p.Arg64Gln			Missense_Mutation	SNP	ENST00000526893.1	37	CCDS54506.1	.	.	.	.	.	.	.	.	.	.	G	9.191	1.025926	0.19512	.	.	ENSG00000254709	ENST00000532223;ENST00000526893;ENST00000531372	T;T	0.00571	6.53;6.5	3.92	-2.68	0.06041	.	.	.	.	.	T	0.00384	0.0012	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.40720	-0.9548	9	0.87932	D	0	.	5.98	0.19401	0.3958:0.1334:0.4708:0.0	.	64	B9A064	IGLL5_HUMAN	Q	64	ENSP00000436353:R64Q;ENSP00000431254:R64Q	ENSP00000431254:R64Q	R	+	2	0	IGLL5	21560424	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.573000	0.02134	-0.708000	0.05015	-0.829000	0.03081	CGG		0.647	IGLL5-002	KNOWN	basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000385699.1	NM_001178126		A	23230424	G	A	23230424	3	1	734	1	0	0	0	0	1	0	0	0	7596	1116	39	1	193	1	IGLL5	22	23230424	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	361463	23230424	28074142	1049	42468											
GNAZ	2781	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	22	23438268	23438268	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:23438268G>A	ENST00000248996.4	+	2	1052	c.386G>A	c.(385-387)cGa>cAa	p.R129Q	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	129					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)		GGTGTCATGCGACGGCTCTGG	0.677																																																0													54	54	54					22																	23438268		2203	4299	6502	SO:0001583	missense	2781				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.386G>A	22.37:g.23438268G>A	ENSP00000248996:p.Arg129Gln		B2R6C1|Q4QRJ6	Missense_Mutation	SNP	ENST00000248996.4	37	CCDS13804.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.785671	0.31593	.	.	ENSG00000128266	ENST00000248996;ENST00000456059	D	0.88586	-2.4	4.85	2.38	0.29361	G protein alpha subunit, helical insertion (2);	0.055374	0.64402	D	0.000001	T	0.77370	0.4120	N	0.21194	0.64	0.35898	D	0.830197	B	0.06786	0.001	B	0.01281	0.0	T	0.72465	-0.4285	10	0.42905	T	0.14	.	4.3483	0.11143	0.4511:0.0:0.5489:0.0	.	129	P19086	GNAZ_HUMAN	Q	129;77	ENSP00000248996:R129Q	ENSP00000248996:R129Q	R	+	2	0	GNAZ	21768268	1.000000	0.71417	1.000000	0.80357	0.018000	0.09664	6.248000	0.72418	1.197000	0.43143	0.655000	0.94253	CGA		0.677	GNAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319073.1	NM_002073		A	23438268	G	A	23438268	3	1	734	1	0	0	0	0	1	0	0	0	6516	1058	37	1	388	1	GNAZ	22	23438268	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	207844	23438268	27866298	1050	42469											
SMARCB1	6598	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	22	24176351	24176351	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:24176351C>T	ENST00000263121.7	+	9	1338	c.1142C>T	c.(1141-1143)aCg>aTg	p.T381M	DERL3_ENST00000464023.1_5'Flank|SMARCB1_ENST00000407082.3_Missense_Mutation_p.T335M|SMARCB1_ENST00000407422.3_Missense_Mutation_p.T372M|SMARCB1_ENST00000344921.6_Missense_Mutation_p.T390M	NM_003073.3	NP_003064.2	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	381					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)				CTTGCCAACACGGCCCCGGCC	0.652			"D, N, F, S"		malignant rhabdoid	malignant rhabdoid																																yes	Rec	yes	Rhabdoid predisposition syndrome	22	22q11	6598	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1"		M	3	Unknown(2)|Deletion - In frame(1)	central_nervous_system(3)											34	26	29					22																	24176351		2193	4297	6490	SO:0001583	missense	6598			U04847	CCDS13817.1, CCDS46671.1	22q11.23	2014-09-17			ENSG00000099956	ENSG00000099956			11103	protein-coding gene	gene with protein product	"sucrose nonfermenting, yeast, homolog-like 1", "integrase interactor 1", "malignant rhabdoid tumor suppressor", "protein phosphatase 1, regulatory subunit 144"	601607		SNF5L1		7801128, 10319872, 10365963	Standard	NM_003073		Approved	BAF47, Ini1, Snr1, hSNFS, Sfh1p, RDT, PPP1R144	uc002zyb.3	Q12824	OTTHUMG00000150737	ENST00000263121.7:c.1142C>T	22.37:g.24176351C>T	ENSP00000263121:p.Thr381Met		O75784|O95474|Q17S11|Q38GA1|Q76N08|Q9UBH2	Missense_Mutation	SNP	ENST00000263121.7	37	CCDS13817.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.346690	0.61073	.	.	ENSG00000099956	ENST00000344921;ENST00000263121;ENST00000407422;ENST00000407082	D;D;D;D	0.94417	-3.42;-3.41;-3.42;-3.33	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.95778	0.8626	L	0.40543	1.245	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.983;0.988	D	0.96175	0.9126	10	0.62326	D	0.03	-17.4606	17.8693	0.88806	0.0:1.0:0.0:0.0	.	390;372;381	G5E975;Q17S11;Q12824	.;.;SNF5_HUMAN	M	390;381;372;335	ENSP00000340883:T390M;ENSP00000263121:T381M;ENSP00000383984:T372M;ENSP00000385226:T335M	ENSP00000263121:T381M	T	+	2	0	SMARCB1	22506351	1.000000	0.71417	0.998000	0.56505	0.132000	0.20833	7.508000	0.81686	2.544000	0.85801	0.543000	0.68304	ACG		0.652	SMARCB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319872.1	NM_003073		T	24176351	C	T	24176351	3	4	734	1	0	0	0	0	1	0	0	0	14780	536	19	1	1176	1	SMARCB1	22	24176351	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	738083	24176351	27128215	1051	42470											
ADORA2A	135	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	22	24836835	24836835	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:24836835G>A	ENST00000337539.7	+	3	1076	c.617G>A	c.(616-618)cGa>cAa	p.R206Q	SPECC1L-ADORA2A_ENST00000358654.2_3'UTR|ADORA2A-AS1_ENST00000543438.1_RNA|ADORA2A-AS1_ENST00000326341.4_RNA|ADORA2A_ENST00000496497.1_3'UTR|ADORA2A-AS1_ENST00000427813.2_RNA	NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1	NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1	P29274	AA2AR_HUMAN	adenosine A2a receptor	206					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cAMP biosynthetic process (GO:0006171)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|central nervous system development (GO:0007417)|inflammatory response (GO:0006954)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phagocytosis (GO:0006909)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|sensory perception (GO:0007600)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|G-protein coupled adenosine receptor activity (GO:0001609)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21	Colorectal(2;0.196)				Adenosine(DB00640)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Mefloquine(DB00358)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Regadenoson(DB06213)|Theobromine(DB01412)|Theophylline(DB00277)	GCGGCGCGACGACAGCTGAAG	0.592																																																0													137	137	137					22																	24836835		2203	4300	6503	SO:0001583	missense	135			X68486	CCDS13826.1	22q11.23	2012-08-08			ENSG00000128271	ENSG00000128271		"GPCR / Class A : Adenosine receptors"	263	protein-coding gene	gene with protein product		102776		ADORA2		1662665, 2541503	Standard	NM_001278497		Approved	RDC8	uc002zzy.4	P29274	OTTHUMG00000150761	ENST00000337539.7:c.617G>A	22.37:g.24836835G>A	ENSP00000336630:p.Arg206Gln		B2R7E0	Missense_Mutation	SNP	ENST00000337539.7	37	CCDS13826.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.132314	0.56828	.	.	ENSG00000128271	ENST00000444262;ENST00000541988;ENST00000337539;ENST00000417596	T;T	0.41400	1.0;1.0	5.13	4.11	0.48088	GPCR, rhodopsin-like superfamily (1);	0.066245	0.64402	D	0.000009	T	0.27629	0.0679	L	0.38649	1.16	0.38637	D	0.951517	P	0.37824	0.609	B	0.27170	0.077	T	0.19778	-1.0295	10	0.59425	D	0.04	-14.2909	9.1234	0.36801	0.1663:0.0:0.8337:0.0	.	206	P29274	AA2AR_HUMAN	Q	206	ENSP00000414802:R206Q;ENSP00000336630:R206Q	ENSP00000336630:R206Q	R	+	2	0	ADORA2A	23166835	1.000000	0.71417	0.969000	0.41365	0.881000	0.50899	5.322000	0.65852	1.156000	0.42514	0.462000	0.41574	CGA		0.592	ADORA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319971.2	NM_000675		A	24836835	G	A	24836835	3	1	734	1	0	0	0	0	1	0	0	0	327	1058	37	1	623	1	ADORA2A	22	24836835	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	660484	24836835	26467731	1052	42471											
ADORA2A	135	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	22	24837116	24837116	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:24837116C>T	ENST00000337539.7	+	3	1357	c.898C>T	c.(898-900)Cgc>Tgc	p.R300C	SPECC1L-ADORA2A_ENST00000358654.2_3'UTR|ADORA2A-AS1_ENST00000543438.1_RNA|ADORA2A-AS1_ENST00000326341.4_RNA|ADORA2A_ENST00000496497.1_3'UTR|ADORA2A-AS1_ENST00000427813.2_RNA	NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1	NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1	P29274	AA2AR_HUMAN	adenosine A2a receptor	300			R -> H (in dbSNP:rs4990).		activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cAMP biosynthetic process (GO:0006171)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|central nervous system development (GO:0007417)|inflammatory response (GO:0006954)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phagocytosis (GO:0006909)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|sensory perception (GO:0007600)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|G-protein coupled adenosine receptor activity (GO:0001609)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21	Colorectal(2;0.196)				Adenosine(DB00640)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Mefloquine(DB00358)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Regadenoson(DB06213)|Theobromine(DB01412)|Theophylline(DB00277)	CCAGACCTTCCGCAAGATCAT	0.582																																																0													75	66	69					22																	24837116		2203	4300	6503	SO:0001583	missense	135			X68486	CCDS13826.1	22q11.23	2012-08-08			ENSG00000128271	ENSG00000128271		"GPCR / Class A : Adenosine receptors"	263	protein-coding gene	gene with protein product		102776		ADORA2		1662665, 2541503	Standard	NM_001278497		Approved	RDC8	uc002zzy.4	P29274	OTTHUMG00000150761	ENST00000337539.7:c.898C>T	22.37:g.24837116C>T	ENSP00000336630:p.Arg300Cys		B2R7E0	Missense_Mutation	SNP	ENST00000337539.7	37	CCDS13826.1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.250623	0.59212	.	.	ENSG00000128271	ENST00000444262;ENST00000541988;ENST00000337539;ENST00000417596	T;T	0.40476	1.03;1.03	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.41880	0.1178	L	0.61218	1.895	0.80722	D	1	D	0.63880	0.993	B	0.42916	0.402	T	0.39143	-0.9628	10	0.40728	T	0.16	-50.0074	12.9218	0.58237	0.162:0.8379:0.0:0.0	.	300	P29274	AA2AR_HUMAN	C	300	ENSP00000414802:R300C;ENSP00000336630:R300C	ENSP00000336630:R300C	R	+	1	0	ADORA2A	23167116	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.516000	0.60496	2.473000	0.83533	0.462000	0.41574	CGC		0.582	ADORA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319971.2	NM_000675		T	24837116	C	T	24837116	3	4	734	1	0	0	0	0	1	0	0	0	327	652	23	1	904	1	ADORA2A	22	24837116	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	281	24837116	26467450	1053	42472											
MYO18B	84700	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	22	26422449	26422449	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:26422449C>T	ENST00000407587.2	+	43	6681	c.6512C>T	c.(6511-6513)tCg>tTg	p.S2171L	MYO18B_ENST00000335473.7_Missense_Mutation_p.S2170L|MYO18B_ENST00000536101.1_Missense_Mutation_p.S2170L			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2170						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						AGGACCCAGTCGGCATTGGCA	0.507																																																0													112	122	119					22																	26422449		1922	4134	6056	SO:0001583	missense	84700			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.6512C>T	22.37:g.26422449C>T	ENSP00000386096:p.Ser2171Leu		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.35|11.35	1.612358|1.612358	0.28712|0.28712	.|.	.|.	ENSG00000133454|ENSG00000133454	ENST00000543971|ENST00000536101;ENST00000335473;ENST00000407587	.|D;D;D	.|0.86627	.|-2.13;-2.13;-2.15	4.28|4.28	-0.72|-0.72	0.11195|0.11195	.|.	.|.	.|.	.|.	.|.	T|T	0.69548|0.69548	0.3123|0.3123	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B	.|0.26935	.|0.164;0.102;0.043;0.002;0.072	.|B;B;B;B;B	.|0.14578	.|0.011;0.005;0.005;0.001;0.011	T|T	0.55685|0.55685	-0.8102|-0.8102	5|9	.|0.28530	.|T	.|0.3	.|.	7.9115|7.9115	0.29793|0.29793	0.0:0.5385:0.3586:0.1029|0.0:0.5385:0.3586:0.1029	.|.	.|1683;2172;2170;2171;2170	.|Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7	.|.;.;MY18B_HUMAN;.;.	W|L	120|2170;2170;2171	.|ENSP00000441229:S2170L;ENSP00000334563:S2170L;ENSP00000386096:S2171L	.|ENSP00000334563:S2170L	R|S	+|+	1|2	2|0	MYO18B|MYO18B	24752449|24752449	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.212000|-0.212000	0.09319|0.09319	0.019000|0.019000	0.15079|0.15079	0.591000|0.591000	0.81541|0.81541	CGG|TCG		0.507	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		T	26422449	C	T	26422449	3	4	734	1	0	0	0	0	1	0	0	0	10068	893	31	1	6675	1	MYO18B	22	26422449	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1585333	26422449	24882117	1054	42473											
SEZ6L	23544	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	22	26688611	26688611	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:26688611G>A	ENST00000248933.6	+	2	429	c.334G>A	c.(334-336)Gcc>Acc	p.A112T	SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000404234.3_Missense_Mutation_p.A112T|SEZ6L_ENST00000343706.4_Missense_Mutation_p.A112T|SEZ6L_ENST00000529632.2_Missense_Mutation_p.A112T|SEZ6L_ENST00000360929.3_Missense_Mutation_p.A112T|SEZ6L_ENST00000402979.1_5'UTR			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	112					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						CCCCAAGCACGCCTTGCCCCC	0.647																																																0													43	36	39					22																	26688611		2203	4300	6503	SO:0001583	missense	23544			AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"seizure related gene 6 (mouse)-like"				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.334G>A	22.37:g.26688611G>A	ENSP00000248933:p.Ala112Thr		A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	ENST00000248933.6	37	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	G	1.111	-0.658295	0.03454	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706	T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55	4.15	-7.7	0.01259	.	1.340970	0.05467	N	0.552354	T	0.10380	0.0254	N	0.08118	0	0.09310	N	0.999995	B;B;B;B;B;B	0.23891	0.001;0.001;0.009;0.093;0.001;0.001	B;B;B;B;B;B	0.12837	0.001;0.001;0.005;0.008;0.001;0.001	T	0.20009	-1.0288	10	0.13108	T	0.6	.	3.7933	0.08730	0.5686:0.1179:0.2071:0.1064	.	112;112;112;112;112;112	B7ZLJ8;B7ZLJ6;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;SE6L1_HUMAN	T	112	ENSP00000384772:A112T;ENSP00000437037:A112T;ENSP00000354185:A112T;ENSP00000248933:A112T;ENSP00000342661:A112T	ENSP00000248933:A112T	A	+	1	0	SEZ6L	25018611	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.512000	0.06313	-1.455000	0.01923	-0.300000	0.09419	GCC		0.647	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			A	26688611	G	A	26688611	3	1	734	1	0	0	0	0	1	0	0	0	14149	1087	38	1	340	1	SEZ6L	22	26688611	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	266162	26688611	24615955	1055	42474											
CHEK2	11200	broad.mit.edu;mdanderson.org;bcgsc.ca	37	22	29091740	29091740	+	Missense_Mutation	SNP	C	C	T	rs200649225		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:29091740C>T	ENST00000405598.1	-	12	1408	c.1217G>A	c.(1216-1218)cGt>cAt	p.R406H	CHEK2_ENST00000382578.1_Missense_Mutation_p.R315H|CHEK2_ENST00000403642.1_Missense_Mutation_p.R315H|CHEK2_ENST00000328354.6_Missense_Mutation_p.R406H|CHEK2_ENST00000404276.1_Missense_Mutation_p.R406H|CHEK2_ENST00000544772.1_Missense_Mutation_p.R185H|CHEK2_ENST00000348295.3_Missense_Mutation_p.R377H|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Missense_Mutation_p.R449H|CHEK2_ENST00000402731.1_Missense_Mutation_p.R377H			O96017	CHK2_HUMAN	checkpoint kinase 2	406	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> H (in dbSNP:rs299671).		cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						GTCCACAGCACGGTTATACCC	0.443			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					C|||	1	0.000199681	0.0	0.0	5008	,	,		19868	0.0		0.0	False		,,,				2504	0.001					yes	Rec		familial breast cancer	22	22q12.1	11200	CHK2 checkpoint homolog (S. pombe)		E	0								C	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	40	41	41		1346,1217,1130	3.5	0.9	22		41	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	CHEK2	NM_001005735.1,NM_007194.3,NM_145862.2	29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	449/587,406/544,377/515	29091740	1,13005	2203	4300	6503	SO:0001583	missense	11200			AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"CHK2 (checkpoint, S.pombe) homolog", "CHK2 checkpoint homolog (S. pombe)"	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1217G>A	22.37:g.29091740C>T	ENSP00000386087:p.Arg406His		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	CCDS13843.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.7|21.7	4.191485|4.191485	0.78902|0.78902	0.0|0.0	1.16E-4|1.16E-4	ENSG00000183765|ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000382563;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731|ENST00000434810	T;T;T;T;T;T;T;T;T|.	0.66280|.	-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2|.	5.73|5.73	3.53|3.53	0.40419|0.40419	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.264364|.	0.40064|.	N|.	0.001198|.	T|T	0.52901|0.52901	0.1763|0.1763	L|L	0.37850|0.37850	1.14|1.14	0.58432|0.58432	D|D	0.999996|0.999996	D;D;D;D;D;D|.	0.89917|.	1.0;0.997;1.0;1.0;0.997;0.999|.	P;P;D;D;P;P|.	0.69307|.	0.858;0.839;0.963;0.953;0.763;0.766|.	T|T	0.47560|0.47560	-0.9108|-0.9108	10|5	0.59425|.	D|.	0.04|.	-8.0499|-8.0499	10.4422|10.4422	0.44472|0.44472	0.0:0.7927:0.1342:0.0731|0.0:0.7927:0.1342:0.0731	.|.	315;185;406;377;406;449|.	O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9|.	.;.;.;.;CHK2_HUMAN;.|.	H|M	377;315;89;185;406;406;406;449;315;377|150	ENSP00000329012:R377H;ENSP00000372021:R315H;ENSP00000442458:R185H;ENSP00000329178:R406H;ENSP00000385747:R406H;ENSP00000386087:R406H;ENSP00000372023:R449H;ENSP00000384919:R315H;ENSP00000384835:R377H|.	ENSP00000329178:R406H|.	R|V	-|-	2|1	0|0	CHEK2|CHEK2	27421740|27421740	0.854000|0.854000	0.29725|0.29725	0.920000|0.920000	0.36463|0.36463	0.956000|0.956000	0.61745|0.61745	1.622000|1.622000	0.36997|0.36997	1.429000|1.429000	0.47314|0.47314	0.650000|0.650000	0.86243|0.86243	CGT|GTG		0.443	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		T	29091740	C	T	29091740	3	4	734	1	0	0	0	0	1	0	0	0	3337	536	19	1	434	1	CHEK2	22	29091740	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	2403129	29091740	22212826	1056	42475											
GAL3ST1	9514	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	22	30951743	30951743	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:30951743C>T	ENST00000402321.1	-	3	786	c.469G>A	c.(469-471)Gcc>Acc	p.A157T	GAL3ST1_ENST00000402369.1_Missense_Mutation_p.A157T|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.A157T|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.A157T|GAL3ST1_ENST00000338911.5_Missense_Mutation_p.A157T|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.A157T|GAL3ST1_ENST00000443111.2_Missense_Mutation_p.A157T			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	157					galactosylceramide biosynthetic process (GO:0006682)|glycosphingolipid metabolic process (GO:0006687)|myelination (GO:0042552)|protein N-linked glycosylation (GO:0006487)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						ATGAAGATGGCGTTGGTCGGC	0.657																																																0													78	82	81					22																	30951743		2203	4300	6503	SO:0001583	missense	9514			D88667	CCDS13879.1	22q12.2	2007-04-02			ENSG00000128242	ENSG00000128242		"Sulfotransferases, membrane-bound"	24240	protein-coding gene	gene with protein product	"cerebroside (3' phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase"	602300				9847074, 9030544	Standard	NM_004861		Approved	CST	uc003aii.1	Q99999	OTTHUMG00000151200	ENST00000402321.1:c.469G>A	22.37:g.30951743C>T	ENSP00000385735:p.Ala157Thr		Q96C63	Missense_Mutation	SNP	ENST00000402321.1	37	CCDS13879.1	.	.	.	.	.	.	.	.	.	.	C	10.26	1.301624	0.23736	.	.	ENSG00000128242	ENST00000406955;ENST00000402321;ENST00000402369;ENST00000401975;ENST00000338911;ENST00000406361;ENST00000443111;ENST00000441967;ENST00000431313;ENST00000452827;ENST00000437282;ENST00000416358;ENST00000427899	T;T;T;T;T;T;T;T;T;T;T;T;T	0.12774	2.65;2.65;2.65;2.65;2.65;2.65;2.65;2.65;2.65;2.65;2.65;2.65;2.65	5.11	4.06	0.47325	.	0.050236	0.85682	D	0.000000	T	0.06096	0.0158	N	0.13371	0.34	0.80722	D	1	P	0.43314	0.803	B	0.33295	0.161	T	0.15578	-1.0432	10	0.02654	T	1	-23.5279	14.5964	0.68410	0.1566:0.8434:0.0:0.0	.	157	Q99999	G3ST1_HUMAN	T	157;157;157;157;157;157;157;157;158;157;157;157;158	ENSP00000385825:A157T;ENSP00000385735:A157T;ENSP00000384122:A157T;ENSP00000384388:A157T;ENSP00000343234:A157T;ENSP00000385207:A157T;ENSP00000402587:A157T;ENSP00000390545:A157T;ENSP00000395080:A158T;ENSP00000405017:A157T;ENSP00000401426:A157T;ENSP00000391485:A157T;ENSP00000397092:A158T	ENSP00000343234:A157T	A	-	1	0	GAL3ST1	29281743	0.998000	0.40836	1.000000	0.80357	0.921000	0.55340	0.766000	0.26560	1.048000	0.40298	0.491000	0.48974	GCC		0.657	GAL3ST1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321745.1	NM_004861		T	30951743	C	T	30951743	3	4	734	1	0	0	0	0	1	0	0	0	6199	768	27	1	806	1	GAL3ST1	22	30951743	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1860003	30951743	20352823	1057	42476											
MORC2	22880	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	22	31328607	31328607	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:31328607C>T	ENST00000397641.3	-	23	3080	c.2672G>A	c.(2671-2673)tGc>tAc	p.C891Y	MORC2-AS1_ENST00000441558.1_RNA|MORC2_ENST00000215862.4_Missense_Mutation_p.C829Y			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	891						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						AATGCGGAGGCATTCGGAAGT	0.592																																																0													116	89	98					22																	31328607		2203	4300	6503	SO:0001583	missense	22880			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.2672G>A	22.37:g.31328607C>T	ENSP00000380763:p.Cys891Tyr		B2RNB1|Q9UF28|Q9Y6V2	Missense_Mutation	SNP	ENST00000397641.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.68|14.68	2.608736|2.608736	0.46527|0.46527	.|.	.|.	ENSG00000133422|ENSG00000133422	ENST00000397641;ENST00000215862|ENST00000445980	T;T|.	0.13307|.	2.61;2.6|.	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	0.336528|.	0.32884|.	N|.	0.005525|.	T|T	0.65471|0.65471	0.2694|0.2694	L|L	0.56769|0.56769	1.78|1.78	0.80722|0.80722	D|D	1|1	P|.	0.44195|.	0.828|.	B|.	0.40782|.	0.34|.	T|T	0.61969|0.61969	-0.6953|-0.6953	10|5	0.51188|.	T|.	0.08|.	.|.	13.5674|13.5674	0.61826|0.61826	0.0:0.9293:0.0:0.0707|0.0:0.9293:0.0:0.0707	.|.	891|.	Q9Y6X9|.	MORC2_HUMAN|.	Y|I	891;829|52	ENSP00000380763:C891Y;ENSP00000215862:C829Y|.	ENSP00000215862:C829Y|.	C|M	-|-	2|3	0|0	MORC2|MORC2	29658607|29658607	0.993000|0.993000	0.37304|0.37304	0.813000|0.813000	0.32504|0.32504	0.013000|0.013000	0.08279|0.08279	3.318000|3.318000	0.51975|0.51975	2.825000|2.825000	0.97269|0.97269	0.655000|0.655000	0.94253|0.94253	TGC|ATG		0.592	MORC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000321710.2	NM_014941		T	31328607	C	T	31328607	3	4	734	1	0	0	0	0	1	0	0	0	9704	710	25	2	442	2	MORC2	22	31328607	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	376864	31328607	19975959	1058	42477											
EIF4ENIF1	56478	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	22	31843508	31843508	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:31843508G>A	ENST00000397525.1	-	14	2115	c.1892C>T	c.(1891-1893)gCc>gTc	p.A631V	EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.A457V|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.A631V|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.A607V|EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.A286V	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	631						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						ATGTGGCAAGGCCAGCCCTTC	0.512																																																0													70	64	66					22																	31843508		2203	4300	6503	SO:0001583	missense	56478			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.1892C>T	22.37:g.31843508G>A	ENSP00000380659:p.Ala631Val		B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Missense_Mutation	SNP	ENST00000397525.1	37	CCDS13898.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.034959	0.54896	.	.	ENSG00000184708	ENST00000344710;ENST00000397525;ENST00000330125;ENST00000397523;ENST00000382180;ENST00000418321	.	.	.	6.17	4.01	0.46588	.	0.388525	0.28908	N	0.013746	T	0.37320	0.0999	L	0.34521	1.04	0.27305	N	0.957477	B;B;B;B	0.27910	0.193;0.193;0.161;0.085	B;B;B;B	0.31614	0.129;0.129;0.079;0.133	T	0.21586	-1.0241	9	0.34782	T	0.22	-5.9143	12.3657	0.55226	0.0:0.1258:0.7445:0.1297	.	457;631;456;607	B1AKL3;Q9NRA8;Q9NRA8-2;B1AKL4	.;4ET_HUMAN;.;.	V	457;631;631;607;286;188	.	ENSP00000328103:A631V	A	-	2	0	EIF4ENIF1	30173508	0.844000	0.29557	0.978000	0.43139	0.805000	0.45488	3.314000	0.51943	2.941000	0.99782	0.655000	0.94253	GCC		0.512	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1	NM_019843		A	31843508	G	A	31843508	3	1	734	1	0	0	0	0	1	0	0	0	5037	1203	42	2	1089	2	EIF4ENIF1	22	31843508	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	514901	31843508	19461058	1059	42478											
EIF4ENIF1	56478	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	22	31851930	31851930	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:31851930C>T	ENST00000397525.1	-	8	1230	c.1007G>A	c.(1006-1008)cGg>cAg	p.R336Q	EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.R173Q|RP11-247I13.11_ENST00000464523.1_RNA|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.R336Q|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.R336Q|EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.R15Q	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	336						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)	p.R336Q(1)		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						CCTACTGAACCGACTGGCAGA	0.433											OREG0003517	type=REGULATORY REGION|Gene=LOC486366|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																				1	Substitution - Missense(1)	endometrium(1)											98	90	93					22																	31851930		2203	4300	6503	SO:0001583	missense	56478			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.1007G>A	22.37:g.31851930C>T	ENSP00000380659:p.Arg336Gln	828	B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Missense_Mutation	SNP	ENST00000397525.1	37	CCDS13898.1	.	.	.	.	.	.	.	.	.	.	C	35	5.526108	0.96431	.	.	ENSG00000184708	ENST00000344710;ENST00000397525;ENST00000330125;ENST00000397523;ENST00000382180;ENST00000420671	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.78285	0.4259	M	0.67397	2.05	0.58432	D	0.999999	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	P;D;D;D	0.85130	0.874;0.986;0.963;0.997	T	0.76124	-0.3074	9	0.45353	T	0.12	-15.0571	17.8153	0.88630	0.0:1.0:0.0:0.0	.	173;336;173;336	B1AKL3;Q9NRA8;Q9NRA8-2;B1AKL4	.;4ET_HUMAN;.;.	Q	173;336;336;336;15;336	.	ENSP00000328103:R336Q	R	-	2	0	EIF4ENIF1	30181930	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.158000	0.77470	2.885000	0.99019	0.655000	0.94253	CGG		0.433	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1	NM_019843		T	31851930	C	T	31851930	3	4	734	1	0	0	0	0	1	0	0	0	5037	652	23	1	2001	1	EIF4ENIF1	22	31851930	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	8422	31851930	19452636	1060	42479											
PISD	23761	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	22	32019743	32019743	+	Intron	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:32019743G>A	ENST00000439502.2	-	4	545				PISD_ENST00000382151.2_Missense_Mutation_p.T49I|PISD_ENST00000478893.1_5'UTR|PISD_ENST00000397500.1_Missense_Mutation_p.T49I|PISD_ENST00000336566.4_Intron|PISD_ENST00000266095.5_Missense_Mutation_p.T49I			Q9UG56	PISD_HUMAN	phosphatidylserine decarboxylase						glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	phosphatidylserine decarboxylase activity (GO:0004609)			central_nervous_system(3)|endometrium(2)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12					Phosphatidylserine(DB00144)	GTAGAGGACGGTCAAGGGCCA	0.672																																																0													106	85	92					22																	32019743		2203	4300	6503	SO:0001627	intron_variant	23761				CCDS13899.1	22q12.2	2011-01-25			ENSG00000241878	ENSG00000241878	4.1.1.65		8999	protein-coding gene	gene with protein product		612770				10591208	Standard	NM_014338		Approved	dJ858B16.2, PSDC	uc003alk.2	Q9UG56	OTTHUMG00000030252	ENST00000439502.2:c.322-1872C>T	22.37:g.32019743G>A			B1AKM7|O43207|O95535|Q6IC28|Q96GQ2|Q9UGA9	Missense_Mutation	SNP	ENST00000439502.2	37		.	.	.	.	.	.	.	.	.	.	G	19.23	3.786977	0.70337	.	.	ENSG00000241878	ENST00000382151;ENST00000266095;ENST00000397500;ENST00000451635;ENST00000422020;ENST00000442379;ENST00000431201;ENST00000429683	.	.	.	5.61	4.6	0.57074	.	.	.	.	.	T	0.56790	0.2009	M	0.63843	1.955	0.43187	D	0.995015	B;P	0.37276	0.139;0.589	B;B	0.38378	0.039;0.272	T	0.60944	-0.7162	8	0.56958	D	0.05	.	13.5452	0.61699	0.0747:0.0:0.9253:0.0	.	49;49	B1AKM6;Q9UG56-2	.;.	I	49	.	ENSP00000266095:T49I	T	-	2	0	PISD	30349743	1.000000	0.71417	0.881000	0.34555	0.988000	0.76386	6.289000	0.72696	1.370000	0.46153	0.591000	0.81541	ACC		0.672	PISD-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000075106.4			A	32019743	G	A	32019743	1	1	734	0	1	0	0	0	0	0	0	0	11948	1261	44	2		2	PISD	22	32019743	Intron	SNP	G	TCGA-KN-8428-01A-11D-2310-10	167813	32019743	19284823	1061	42480											
RFPL2	10739	broad.mit.edu;bcgsc.ca	37	22	32587274	32587274	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:32587274C>T	ENST00000400237.1	-	5	1557	c.622G>A	c.(622-624)Gtc>Atc	p.V208I	RFPL2_ENST00000248983.4_Missense_Mutation_p.V118I|RFPL2_ENST00000248980.4_Missense_Mutation_p.V147I|RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000400236.3_Missense_Mutation_p.V118I			O75678	RFPL2_HUMAN	ret finger protein-like 2	208	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						CCACTTCGGACGCTCCTGAGG	0.527																																																0													131	120	123					22																	32587274		2203	4300	6503	SO:0001583	missense	10739			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.622G>A	22.37:g.32587274C>T	ENSP00000383096:p.Val208Ile			Missense_Mutation	SNP	ENST00000400237.1	37	CCDS43009.2	.	.	.	.	.	.	.	.	.	.	C	12.40	1.927680	0.34002	.	.	ENSG00000128253	ENST00000248980;ENST00000248983;ENST00000400236;ENST00000400237	T;T;T;T	0.24723	1.84;1.84;1.84;1.84	0.351	-0.702	0.11265	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.35128	0.0921	M	0.66378	2.025	0.09310	N	1	D;D	0.57257	0.979;0.967	P;P	0.55785	0.784;0.677	T	0.19614	-1.0300	9	0.59425	D	0.04	.	4.8587	0.13571	0.3466:0.6534:0.0:0.0	.	208;147	O75678;O75678-3	RFPL2_HUMAN;.	I	147;118;118;208	ENSP00000248980:V147I;ENSP00000248983:V118I;ENSP00000383095:V118I;ENSP00000383096:V208I	ENSP00000248980:V147I	V	-	1	0	RFPL2	30917274	0.426000	0.25506	0.003000	0.11579	0.003000	0.03518	1.638000	0.37165	-0.726000	0.04895	-0.745000	0.03516	GTC		0.527	RFPL2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075262.2	NM_006605		T	32587274	C	T	32587274	3	4	734	1	0	0	0	0	1	0	0	0	13260	536	19	1	518	1	RFPL2	22	32587274	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	567531	32587274	18717292	1062	42481											
RBM9	23543	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	22	36334942	36334942	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:36334942C>T	ENST00000438146.2	-	2	189	c.190G>A	c.(190-192)Gag>Aag	p.E64K	RBFOX2_ENST00000359369.4_5'UTR	NM_001082578.1|NM_001082579.1	NP_001076047|NP_001076048.1	O43251	RFOX2_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 2	4					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						GTCAGAGGCTCGTTCTATGAG	0.403																																																0													83	84	84					22																	36334942		1915	4130	6045	SO:0001583	missense	23543			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.190G>A	22.37:g.36334942C>T	ENSP00000413035:p.Glu64Lys		A4F5G8|A8K5Z5|B0QYY8|B0QYY9|Q0PRL5|Q0VH35|Q5TF71|Q6IC09|Q8TD00|Q8WYB1|Q96DZ6|Q96NL7|Q9UGW4|Q9UH33	Missense_Mutation	SNP	ENST00000438146.2	37	CCDS43013.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.195731	0.58126	.	.	ENSG00000100320	ENST00000338644;ENST00000438146;ENST00000408983	T;T	0.49139	0.79;1.42	5.22	5.22	0.72569	.	0.000000	0.43416	D	0.000577	T	0.47820	0.1466	N	0.08118	0	0.32323	N	0.562168	D;D	0.65815	0.995;0.995	D;D	0.68192	0.956;0.956	T	0.60342	-0.7282	10	0.87932	D	0	.	14.1472	0.65357	0.0:1.0:0.0:0.0	.	64;64	O43251-6;O43251-8	.;.	K	4;64;16	ENSP00000413035:E64K;ENSP00000386177:E16K	ENSP00000342831:E4K	E	-	1	0	RBFOX2	34664888	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.801000	0.55545	2.717000	0.92951	0.563000	0.77884	GAG		0.403	RBFOX2-005	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319299.3			T	36334942	C	T	36334942	3	4	734	1	0	0	0	0	1	0	0	0	13153	893	31	1	1258	1	RBM9	22	36334942	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	3747668	36334942	14969624	1063	42482											
PDXP	57026	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	22	38061706	38061706	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:38061706T>C	ENST00000215904.6	+	2	775	c.719T>C	c.(718-720)cTg>cCg	p.L240P	PDXP_ENST00000403251.1_Missense_Mutation_p.L23P|SH3BP1_ENST00000599616.1_Missense_Mutation_p.L549P	NM_020315.4	NP_064711.1	Q96GD0	PLPP_HUMAN	pyridoxal (pyridoxine, vitamin B6) phosphatase	240					actin rod assembly (GO:0031247)|cellular response to ATP (GO:0071318)|positive regulation of actin filament depolymerization (GO:0030836)|protein dephosphorylation (GO:0006470)|pyridoxal phosphate catabolic process (GO:0032361)|regulation of cytokinesis (GO:0032465)|regulation of mitosis (GO:0007088)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	heat shock protein binding (GO:0031072)|magnesium ion binding (GO:0000287)|phosphoprotein phosphatase activity (GO:0004721)|phosphoserine phosphatase activity (GO:0004647)|pyridoxal phosphatase activity (GO:0033883)			kidney(1)|large_intestine(1)|lung(5)|ovary(2)	9	Melanoma(58;0.0574)					GGTGACCGCCTGGAGACCGAC	0.642																																																0													137	122	127					22																	38061706		2203	4300	6503	SO:0001583	missense	57026			BC064922	CCDS13953.1	22q12.3	2005-08-16			ENSG00000241360	ENSG00000241360			30259	protein-coding gene	gene with protein product		609246				14522954	Standard	NM_020315		Approved	dJ37E16.5, FLJ32703		Q96GD0	OTTHUMG00000044618	ENST00000215904.6:c.719T>C	22.37:g.38061706T>C	ENSP00000215904:p.Leu240Pro		Q9UGY2	Missense_Mutation	SNP	ENST00000215904.6	37	CCDS13953.1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.744933	0.89663	.	.	ENSG00000241360	ENST00000215904;ENST00000403251	T;T	0.36340	1.26;1.26	5.78	5.78	0.91487	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);	.	.	.	.	T	0.62696	0.2449	M	0.76938	2.355	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.67252	-0.5717	9	0.87932	D	0	-7.7132	16.1061	0.81223	0.0:0.0:0.0:1.0	.	240;549	Q96GD0;Q6ZT62	PLPP_HUMAN;.	P	240;23	ENSP00000215904:L240P;ENSP00000385336:L23P	ENSP00000215904:L240P	L	+	2	0	PDXP	36391652	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.955000	0.87856	2.210000	0.71456	0.459000	0.35465	CTG		0.642	PDXP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104105.2	NM_020315		C	38061706	T	C	38061706	3	2	734	1	0	0	0	0	1	0	0	0	11700	1580	55	3	725	3	PDXP	22	38061706	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	1726764	38061706	13242860	1064	42483											
TRIOBP	11078	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	22	38153951	38153951	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:38153951C>T	ENST00000406386.3	+	16	6274	c.6019C>T	c.(6019-6021)Cgc>Tgc	p.R2007C	TRIOBP_ENST00000407319.2_Missense_Mutation_p.R294C|TRIOBP_ENST00000403663.2_Missense_Mutation_p.R294C	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	2007					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)					TGAGGGGCCGCGCCGGGGCCT	0.682																																																0													9	11	11					22																	38153951		2090	4132	6222	SO:0001583	missense	11078			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.6019C>T	22.37:g.38153951C>T	ENSP00000384312:p.Arg2007Cys		B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	CCDS43015.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.50|15.50	2.853008|2.853008	0.51270|0.51270	.|.	.|.	ENSG00000100106|ENSG00000100106	ENST00000428075|ENST00000406386;ENST00000407319;ENST00000403663;ENST00000418339;ENST00000417857	.|T	.|0.24151	.|1.87	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	.|.	.|.	.|.	.|.	T|T	0.44222|0.44222	0.1283|0.1283	L|L	0.59436|0.59436	1.845|1.845	0.09310|0.09310	N|N	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.68039	.|0.955;0.945;0.928	T|T	0.29458|0.29458	-1.0011|-1.0011	5|9	.|0.49607	.|T	.|0.09	.|.	10.746|10.746	0.46181|0.46181	0.0:0.7937:0.1333:0.0729|0.0:0.7937:0.1333:0.0729	.|.	.|294;294;2007	.|F8W6V6;F2Z2W0;Q9H2D6	.|.;.;TARA_HUMAN	V|C	247|2007;294;294;253;223	.|ENSP00000384312:R2007C	.|ENSP00000386026:R294C	A|R	+|+	2|1	0|0	TRIOBP|TRIOBP	36483897|36483897	0.954000|0.954000	0.32549|0.32549	0.903000|0.903000	0.35520|0.35520	0.727000|0.727000	0.41649|0.41649	2.030000|2.030000	0.41108|0.41108	2.527000|2.527000	0.85204|0.85204	0.561000|0.561000	0.74099|0.74099	GCG|CGC		0.682	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			T	38153951	C	T	38153951	3	4	734	1	0	0	0	0	1	0	0	0	16558	768	27	1	6260	1	TRIOBP	22	38153951	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	92245	38153951	13150615	1065	42484											
PLA2G6	8398	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	22	38522429	38522429	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:38522429C>T	ENST00000332509.3	-	10	1559	c.1376G>A	c.(1375-1377)cGg>cAg	p.R459Q	PLA2G6_ENST00000402064.1_Missense_Mutation_p.R405Q|PLA2G6_ENST00000335539.3_Missense_Mutation_p.R405Q|PLA2G6_ENST00000490473.1_5'UTR	NM_003560.2	NP_003551.2	O60733	PLPL9_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	459					cardiolipin acyl-chain remodeling (GO:0035965)|cardiolipin biosynthetic process (GO:0032049)|cell death (GO:0008219)|chemotaxis (GO:0006935)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of exocytosis (GO:0045921)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of vasodilation (GO:0045909)|regulation of store-operated calcium channel activity (GO:1901339)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|urinary bladder smooth muscle contraction (GO:0014832)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipase A2 activity (GO:0004623)			breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	CTTCCGGGCCCGTGAGATGTG	0.612																																																0													115	99	105					22																	38522429		2203	4300	6503	SO:0001583	missense	8398			AF064594	CCDS13967.1, CCDS33645.1	22q13.1	2013-01-10			ENSG00000184381	ENSG00000184381	3.1.1.4	"Patatin-like phospholipase domain containing", "Parkinson disease", "Ankyrin repeat domain containing"	9039	protein-coding gene	gene with protein product	"neurodegeneration with brain iron accumulation 2"	603604				9417066, 16799181, 19029121	Standard	NM_001199562		Approved	iPLA2, PNPLA9, PARK14, iPLA2beta, NBIA2	uc003aux.1	O60733	OTTHUMG00000151246	ENST00000332509.3:c.1376G>A	22.37:g.38522429C>T	ENSP00000333142:p.Arg459Gln		A8K597|B0QYE8|O75645|Q8N452|Q9UG29|Q9UIT0|Q9Y671	Missense_Mutation	SNP	ENST00000332509.3	37	CCDS13967.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.158668	0.57368	.	.	ENSG00000184381	ENST00000332509;ENST00000419848;ENST00000335539;ENST00000402064;ENST00000396860	T;T;T	0.61980	0.08;0.06;0.06	4.7	4.7	0.59300	.	0.186924	0.45606	D	0.000343	T	0.60881	0.2303	N	0.14661	0.345	0.80722	D	1	D;D	0.71674	0.998;0.959	D;B	0.75484	0.986;0.287	T	0.55679	-0.8103	10	0.16896	T	0.51	-32.198	13.0024	0.58683	0.0:1.0:0.0:0.0	.	405;459	O60733-2;O60733	.;PA2G6_HUMAN	Q	459;320;405;405;459	ENSP00000333142:R459Q;ENSP00000335149:R405Q;ENSP00000386100:R405Q	ENSP00000333142:R459Q	R	-	2	0	PLA2G6	36852375	0.996000	0.38824	0.991000	0.47740	0.242000	0.25591	3.576000	0.53878	2.428000	0.82296	0.655000	0.94253	CGG		0.612	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321860.1	NM_001004426		T	38522429	C	T	38522429	3	4	734	1	0	0	0	0	1	0	0	0	12010	652	23	1	1076	1	PLA2G6	22	38522429	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	368478	38522429	12782137	1066	42485											
PLA2G6	8398	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	22	38536030	38536030	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:38536030G>A	ENST00000332509.3	-	5	939	c.756C>T	c.(754-756)aaC>aaT	p.N252N	PLA2G6_ENST00000402064.1_Silent_p.N252N|PLA2G6_ENST00000335539.3_Silent_p.N252N	NM_003560.2	NP_003551.2	O60733	PLPL9_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	252					cardiolipin acyl-chain remodeling (GO:0035965)|cardiolipin biosynthetic process (GO:0032049)|cell death (GO:0008219)|chemotaxis (GO:0006935)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of exocytosis (GO:0045921)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of vasodilation (GO:0045909)|regulation of store-operated calcium channel activity (GO:1901339)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|urinary bladder smooth muscle contraction (GO:0014832)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipase A2 activity (GO:0004623)			breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	TGGGGTAGCCGTTGGGGCCCA	0.637																																																0													44	44	44					22																	38536030		2203	4300	6503	SO:0001819	synonymous_variant	8398			AF064594	CCDS13967.1, CCDS33645.1	22q13.1	2013-01-10			ENSG00000184381	ENSG00000184381	3.1.1.4	"Patatin-like phospholipase domain containing", "Parkinson disease", "Ankyrin repeat domain containing"	9039	protein-coding gene	gene with protein product	"neurodegeneration with brain iron accumulation 2"	603604				9417066, 16799181, 19029121	Standard	NM_001199562		Approved	iPLA2, PNPLA9, PARK14, iPLA2beta, NBIA2	uc003aux.1	O60733	OTTHUMG00000151246	ENST00000332509.3:c.756C>T	22.37:g.38536030G>A			A8K597|B0QYE8|O75645|Q8N452|Q9UG29|Q9UIT0|Q9Y671	Silent	SNP	ENST00000332509.3	37	CCDS13967.1	.	.	.	.	.	.	.	.	.	.	G	2.650	-0.282260	0.05642	.	.	ENSG00000184381	ENST00000427453;ENST00000452542	.	.	.	5.69	-5.62	0.02481	.	.	.	.	.	T	0.38799	0.1054	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36817	-0.9732	4	.	.	.	-0.0272	3.4062	0.07341	0.3981:0.3313:0.1814:0.0892	.	.	.	.	M	4;83	.	.	T	-	2	0	PLA2G6	36865976	0.000000	0.05858	0.001000	0.08648	0.418000	0.31294	-0.887000	0.04152	-1.319000	0.02286	-0.224000	0.12420	ACG		0.637	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321860.1	NM_001004426		A	38536030	G	A	38536030	2	1	734	1	0	0	0	0	0	0	0	1	12010	1136	40	1		1	PLA2G6	22	38536030	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	13601	38536030	12768536	1067	42486											
KDELR3	11015	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	22	38875685	38875685	+	Missense_Mutation	SNP	C	C	T	rs569201267		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:38875685C>T	ENST00000216014.4	+	3	452	c.280C>T	c.(280-282)Cgc>Tgc	p.R94C	KDELR3_ENST00000409006.3_Missense_Mutation_p.R94C|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	94					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)					TGACACATTCCGCCTGGAGTT	0.443													C|||	1	0.000199681	0.0	0.0	5008	,	,		21964	0.001		0.0	False		,,,				2504	0.0				Ovarian(11;103 529 24120 28493 32980)											0													288	291	290					22																	38875685		2203	4300	6503	SO:0001583	missense	11015			AL035081	CCDS13972.1, CCDS46705.1	22q13	2008-05-02			ENSG00000100196	ENSG00000100196			6306	protein-coding gene	gene with protein product							Standard	NM_006855		Approved		uc003avu.3	O43731	OTTHUMG00000153520	ENST00000216014.4:c.280C>T	22.37:g.38875685C>T	ENSP00000216014:p.Arg94Cys		A8K7T7|B8ZZ26|O95557|Q4V750|Q4V767|Q53FP4|Q53GK1	Missense_Mutation	SNP	ENST00000216014.4	37	CCDS13972.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.140095	0.77775	.	.	ENSG00000100196	ENST00000216014;ENST00000409006	T;T	0.29655	1.56;1.56	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.52008	0.1708	M	0.86420	2.815	0.80722	D	1	P;D	0.53462	0.937;0.96	P;P	0.50791	0.633;0.65	T	0.64136	-0.6478	10	0.62326	D	0.03	.	17.7055	0.88308	0.0:1.0:0.0:0.0	.	94;94	O43731;O43731-2	ERD23_HUMAN;.	C	94	ENSP00000216014:R94C;ENSP00000386918:R94C	ENSP00000216014:R94C	R	+	1	0	KDELR3	37205631	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.574000	0.53863	2.401000	0.81631	0.655000	0.94253	CGC		0.443	KDELR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331474.1			T	38875685	C	T	38875685	3	4	734	1	0	0	0	0	1	0	0	0	8123	652	23	1	290	1	KDELR3	22	38875685	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	339655	38875685	12428881	1068	42487											
APOBEC3G	60489	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	22	39482315	39482315	+	Missense_Mutation	SNP	G	G	A	rs17000736	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:39482315G>A	ENST00000407997.3	+	6	1124	c.767G>A	c.(766-768)cGc>cAc	p.R256H	APOBEC3G_ENST00000452957.2_Missense_Mutation_p.R256H	NM_021822.3	NP_068594.1	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G	256	Necessary for homooligomerization.		R -> H (in dbSNP:rs17000736).		base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral process (GO:0048525)|positive regulation of defense response to virus by host (GO:0002230)|viral process (GO:0016032)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|ribonucleoprotein complex (GO:0030529)	cytidine deaminase activity (GO:0004126)|deoxycytidine deaminase activity (GO:0047844)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12	Melanoma(58;0.04)					CTTGAAGGCCGCCATGCAGAG	0.498													G|||	19	0.00379393	0.0144	0.0	5008	,	,		17133	0.0		0.0	False		,,,				2504	0.0															0								G	HIS/ARG	68,4338		0,68,2135	77	80	79		767	-0.7	0	22	dbSNP_123	79	0,8600		0,0,4300	yes	missense	APOBEC3G	NM_021822.3	29	0,68,6435	AA,AG,GG		0.0,1.5433,0.5228	probably-damaging	256/385	39482315	68,12938	2203	4300	6503	SO:0001583	missense	60489			AF182420	CCDS13984.1	22q13.1-q13.2	2008-05-15			ENSG00000239713	ENSG00000239713		"Apolipoprotein B mRNA editing enzymes"	17357	protein-coding gene	gene with protein product		607113				11863358	Standard	NM_021822		Approved	CEM15, MDS019, dJ494G10.1, FLJ12740, bK150C2.7		Q9HC16	OTTHUMG00000151081	ENST00000407997.3:c.767G>A	22.37:g.39482315G>A	ENSP00000385057:p.Arg256His		B2RDR9|Q45F02|Q5TF77|Q7Z2N1|Q7Z2N4|Q9H9H8	Missense_Mutation	SNP	ENST00000407997.3	37	CCDS13984.1	7	0.003205128205128205	7	0.014227642276422764	0	0.0	0	0.0	0	0.0	.	9.142	1.014009	0.19277	0.015433	0.0	ENSG00000239713	ENST00000452957;ENST00000407997	T;T	0.64803	-0.12;-0.12	1.65	-0.725	0.11174	APOBEC-like, N-terminal (1);Cytidine deaminase-like (1);	.	.	.	.	T	0.49541	0.1563	L	0.43646	1.37	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.48281	-0.9049	9	0.41790	T	0.15	.	4.413	0.11443	0.1617:0.2335:0.6048:0.0	rs17000736;rs17000736	256	Q9HC16	ABC3G_HUMAN	H	256	ENSP00000413376:R256H;ENSP00000385057:R256H	ENSP00000385057:R256H	R	+	2	0	APOBEC3G	37812261	0.968000	0.33430	0.002000	0.10522	0.018000	0.09664	2.037000	0.41174	-0.131000	0.11578	-0.315000	0.08773	CGC		0.498	APOBEC3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321219.1	NM_021822		A	39482315	G	A	39482315	3	1	734	1	0	0	0	0	1	0	0	0	794	1087	38	1	789	1	APOBEC3G	22	39482315	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	606630	39482315	11822251	1069	42488											
TNRC6B	23112	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	22	40717184	40717184	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:40717184C>T	ENST00000454349.2	+	22	5276	c.5065C>T	c.(5065-5067)Cga>Tga	p.R1689*	TNRC6B_ENST00000402203.1_Nonsense_Mutation_p.R885*|TNRC6B_ENST00000335727.9_Nonsense_Mutation_p.R1579*|TNRC6B_ENST00000301923.9_Nonsense_Mutation_p.R885*	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1689	RRM.|Silencing domain; interaction with CNOT1 and PAN3.				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						TGCCCTGATCCGATACAGCAC	0.522																																																0													66	65	65					22																	40717184		2080	4227	6307	SO:0001587	stop_gained	23112			AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"Trinucleotide (CAG) repeat containing"	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.5065C>T	22.37:g.40717184C>T	ENSP00000401946:p.Arg1689*		B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Nonsense_Mutation	SNP	ENST00000454349.2	37	CCDS54533.1	.	.	.	.	.	.	.	.	.	.	C	46	12.313979	0.99656	.	.	ENSG00000100354	ENST00000301923;ENST00000402203;ENST00000454349;ENST00000400140;ENST00000335727	.	.	.	5.52	5.52	0.82312	.	0.063647	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.1621	19.8022	0.96513	0.0:1.0:0.0:0.0	.	.	.	.	X	885;885;1689;1579;1579	.	ENSP00000306759:R885X	R	+	1	2	TNRC6B	39047130	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.839000	0.62810	2.764000	0.94973	0.650000	0.86243	CGA		0.522	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding				T	40717184	C	T	40717184	4	4	734	1	0	0	0	0	0	1	0	0	16346	644	23	1	5272	1	TNRC6B	22	40717184	Nonsense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1234869	40717184	10587382	1070	42489											
CENPM	79019	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	22	42341239	42341239	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:42341239G>A	ENST00000215980.5	-	4	387	c.300C>T	c.(298-300)ctC>ctT	p.L100L	CENPM_ENST00000407253.3_Silent_p.L100L|CENPM_ENST00000404067.1_Silent_p.L66L|CENPM_ENST00000402420.1_Missense_Mutation_p.R95C|CENPM_ENST00000402338.1_Silent_p.L66L	NM_024053.3	NP_076958.1	Q9NSP4	CENPM_HUMAN	centromere protein M	100					mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)				kidney(1)|large_intestine(1)|prostate(1)	3						CACCTGTGGCGAGGAAACACA	0.602																																																0													105	81	89					22																	42341239		2203	4300	6503	SO:0001819	synonymous_variant	79019			BC000705	CCDS14025.1, CCDS46719.1, CCDS46720.1	22q13.2	2013-11-05	2006-06-15	2006-06-15	ENSG00000100162	ENSG00000100162			18352	protein-coding gene	gene with protein product		610152	"chromosome 22 open reading frame 18"	C22orf18		16622420, 16622419	Standard	NM_001110215		Approved	Pane1, CENP-M, MGC861	uc003bbn.3	Q9NSP4	OTTHUMG00000151277	ENST00000215980.5:c.300C>T	22.37:g.42341239G>A			A7LM22|B1AHQ9|Q6I9W3	Silent	SNP	ENST00000215980.5	37	CCDS14025.1	.	.	.	.	.	.	.	.	.	.	G	12.19	1.864539	0.32977	.	.	ENSG00000100162	ENST00000402420	.	.	.	5.71	-11.4	0.00090	.	.	.	.	.	T	0.27832	0.0685	.	.	.	0.20489	N	0.999892	.	.	.	.	.	.	T	0.38908	-0.9639	5	0.46703	T	0.11	-11.2713	5.7759	0.18279	0.3699:0.39:0.1722:0.0679	.	.	.	.	C	95	.	ENSP00000384132:R95C	R	-	1	0	CENPM	40671185	0.000000	0.05858	0.009000	0.14445	0.516000	0.34256	-2.795000	0.00764	-2.780000	0.00361	-0.797000	0.03246	CGC		0.602	CENPM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322058.1	NM_024053		A	42341239	G	A	42341239	2	1	734	1	0	0	0	0	0	0	0	1	3239	1045	37	1		1	CENPM	22	42341239	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1624055	42341239	8963327	1071	42490											
C22orf32	91689	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	22	42475891	42475891	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:42475891G>T	ENST00000331479.3	+	1	193	c.119G>T	c.(118-120)cGg>cTg	p.R40L		NM_033318.4	NP_201575.3	Q9H4I9	EMRE_HUMAN	single-pass membrane protein with aspartate-rich tail 1	40					calcium ion transmembrane import into mitochondrion (GO:0036444)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)	integral component of mitochondrial inner membrane (GO:0031305)|uniplex complex (GO:1990246)											GGCTCAGGCCGGAGCCTGGTA	0.652																																																0													67	70	69					22																	42475891		2203	4300	6503	SO:0001583	missense	91689			BC024237	CCDS14031.1	22q13.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000183172	ENSG00000183172			25055	protein-coding gene	gene with protein product		615588	"chromosome 22 open reading frame 32"	C22orf32		12477932	Standard	NM_033318		Approved	dJ186O1.1, DDDD	uc003bca.3	Q9H4I9	OTTHUMG00000151286	ENST00000331479.3:c.119G>T	22.37:g.42475891G>T	ENSP00000327467:p.Arg40Leu		B2R5D1|Q8TAB9	Missense_Mutation	SNP	ENST00000331479.3	37	CCDS14031.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.242444	0.58995	.	.	ENSG00000183172	ENST00000331479	T	0.39229	1.09	6.08	-9.13	0.00704	.	1.290520	0.04919	N	0.454658	T	0.14141	0.0342	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.14783	-1.0460	10	0.09338	T	0.73	0.8194	2.0571	0.03583	0.226:0.2377:0.3707:0.1656	.	40	Q9H4I9	CV032_HUMAN	L	40	ENSP00000327467:R40L	ENSP00000327467:R40L	R	+	2	0	C22orf32	40805837	0.004000	0.15560	0.003000	0.11579	0.031000	0.12232	-0.474000	0.06607	-1.272000	0.02427	-1.239000	0.01543	CGG		0.652	SMDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322086.1	NM_033318		T	42475891	G	T	42475891	3	4	734	1	0	0	0	0	1	0	0	0	2146	1116	39	4	121	4	C22orf32	22	42475891	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	134652	42475891	8828675	1072	42491											
C22orf32	91689	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	22	42475902	42475902	+	Missense_Mutation	SNP	C	C	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:42475902C>A	ENST00000331479.3	+	1	204	c.130C>A	c.(130-132)Ccg>Acg	p.P44T		NM_033318.4	NP_201575.3	Q9H4I9	EMRE_HUMAN	single-pass membrane protein with aspartate-rich tail 1	44					calcium ion transmembrane import into mitochondrion (GO:0036444)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)	integral component of mitochondrial inner membrane (GO:0031305)|uniplex complex (GO:1990246)											GAGCCTGGTACCGTCGAGGTC	0.647																																																0													70	72	71					22																	42475902		2203	4300	6503	SO:0001583	missense	91689			BC024237	CCDS14031.1	22q13.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000183172	ENSG00000183172			25055	protein-coding gene	gene with protein product		615588	"chromosome 22 open reading frame 32"	C22orf32		12477932	Standard	NM_033318		Approved	dJ186O1.1, DDDD	uc003bca.3	Q9H4I9	OTTHUMG00000151286	ENST00000331479.3:c.130C>A	22.37:g.42475902C>A	ENSP00000327467:p.Pro44Thr		B2R5D1|Q8TAB9	Missense_Mutation	SNP	ENST00000331479.3	37	CCDS14031.1	.	.	.	.	.	.	.	.	.	.	C	32	5.110148	0.94292	.	.	ENSG00000183172	ENST00000331479	T	0.46063	0.88	6.08	5.07	0.68467	.	0.053286	0.85682	D	0.000000	T	0.59865	0.2225	M	0.66939	2.045	0.58432	D	0.99999	D	0.62365	0.991	P	0.61201	0.885	T	0.63655	-0.6588	10	0.59425	D	0.04	-7.7469	15.0475	0.71838	0.0:0.9316:0.0:0.0684	.	44	Q9H4I9	CV032_HUMAN	T	44	ENSP00000327467:P44T	ENSP00000327467:P44T	P	+	1	0	C22orf32	40805848	0.997000	0.39634	1.000000	0.80357	0.733000	0.41908	2.943000	0.49026	1.591000	0.50007	0.591000	0.81541	CCG		0.647	SMDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322086.1	NM_033318		A	42475902	C	A	42475902	3	1	734	1	0	0	0	0	1	0	0	0	2146	507	18	4	132	4	C22orf32	22	42475902	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	11	42475902	8828664	1073	42492											
CYP2D6	1565	broad.mit.edu;mdanderson.org;bcgsc.ca	37	22	42525053	42525053	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:42525053C>T	ENST00000360608.5	-	3	601	c.487G>A	c.(487-489)Gcc>Acc	p.A163T	NDUFA6-AS1_ENST00000439129.1_RNA|CYP2D6_ENST00000359033.4_Intron|NDUFA6-AS1_ENST00000608288.1_RNA|NDUFA6-AS1_ENST00000416037.2_RNA|NDUFA6-AS1_ENST00000608491.1_RNA|CYP2D6_ENST00000389970.3_Missense_Mutation_p.A163T	NM_000106.5	NP_000097	P10635	CP2D6_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	163					alkaloid catabolic process (GO:0009822)|alkaloid metabolic process (GO:0009820)|coumarin metabolic process (GO:0009804)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|isoquinoline alkaloid metabolic process (GO:0033076)|monoterpenoid metabolic process (GO:0016098)|negative regulation of binding (GO:0051100)|negative regulation of cellular organofluorine metabolic process (GO:0090350)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21					Abiraterone(DB05812)|Acebutolol(DB01193)|Acetaminophen(DB00316)|Ajmaline(DB01426)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alprenolol(DB00866)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amoxapine(DB00543)|Amphetamine(DB00182)|Amprenavir(DB00701)|Amsacrine(DB00276)|Antipyrine(DB01435)|Aprindine(DB01429)|Arformoterol(DB01274)|Aripiprazole(DB01238)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzatropine(DB00245)|Benzyl alcohol(DB06770)|Bepridil(DB01244)|Betaxolol(DB00195)|Bicalutamide(DB01128)|Biperiden(DB00810)|Bisoprolol(DB00612)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Caffeine(DB00201)|Captopril(DB01197)|Carbinoxamine(DB00748)|Carteolol(DB00521)|Carvedilol(DB01136)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Cisapride(DB00604)|Citalopram(DB00215)|Clemastine(DB00283)|Clevidipine(DB04920)|Clomipramine(DB01242)|Clonidine(DB00575)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Darifenacin(DB00496)|Debrisoquin(DB04840)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dihydrocodeine(DB01551)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronedarone(DB04855)|Duloxetine(DB00476)|Efavirenz(DB00625)|Eletriptan(DB00216)|Encainide(DB01228)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erlotinib(DB00530)|Escitalopram(DB01175)|Ethylmorphine(DB01466)|Etoricoxib(DB01628)|Felodipine(DB01023)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fingolimod(DB08868)|Flecainide(DB01195)|Flunarizine(DB04841)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Galantamine(DB00674)|Gefitinib(DB00317)|Glutethimide(DB01437)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Histamine Phosphate(DB00667)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Hydroxychloroquine(DB01611)|Hydroxyurea(DB01005)|Hydroxyzine(DB00557)|Idarubicin(DB01177)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Isoniazid(DB00951)|Itraconazole(DB01167)|Ketoconazole(DB01026)|L-DOPA(DB01235)|Labetalol(DB00598)|Lansoprazole(DB00448)|Lercanidipine(DB00528)|Levomilnacipran(DB08918)|Lidocaine(DB00281)|Lisuride(DB00589)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Lovastatin(DB00227)|Lumefantrine(DB06708)|Maprotiline(DB00934)|Mefloquine(DB00358)|Mepyramine(DB06691)|Mequitazine(DB01071)|Mesoridazine(DB00933)|Methadone(DB00333)|Methamphetamine(DB01577)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Methylnaltrexone(DB06800)|Methylphenidate(DB00422)|Methyprylon(DB01107)|Metoclopramide(DB01233)|Metoprolol(DB00264)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midodrine(DB00211)|Mifepristone(DB00834)|Minaprine(DB00805)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Morphine(DB00295)|Nateglinide(DB00731)|Nebivolol(DB04861)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niacin(DB00627)|Nicardipine(DB00622)|Nicergoline(DB00699)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitrofural(DB00336)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxamniquine(DB01096)|Oxprenolol(DB01580)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paliperidone(DB01267)|Palonosetron(DB00377)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Pergolide(DB01186)|Perhexiline(DB01074)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenformin(DB00914)|Phentermine(DB00191)|Pimozide(DB01100)|Pindolol(DB00960)|Pioglitazone(DB01132)|Piperazine(DB00592)|Pipotiazine(DB01621)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Primaquine(DB01087)|Procainamide(DB01035)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Pyrimethamine(DB00205)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Remoxipride(DB00409)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivastigmine(DB00989)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tapentadol(DB06204)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Terbinafine(DB00857)|Tetrabenazine(DB04844)|Theophylline(DB00277)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Timolol(DB00373)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tolterodine(DB01036)|Trabectedin(DB05109)|Tramadol(DB00193)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Trospium(DB00209)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vinorelbine(DB00361)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Ziprasidone(DB00246)|Zolpidem(DB00425)	TTGGCGAAGGCGGCACAAAGG	0.667																																																0													12	16	15					22																	42525053		2133	4213	6346	SO:0001583	missense	1565			M20403	CCDS33657.1, CCDS46721.1	22q13.1	2014-09-17	2003-01-14		ENSG00000100197	ENSG00000100197		"Cytochrome P450s"	2625	protein-coding gene	gene with protein product		124030	"cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6", "cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2", "cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2", "cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2", "cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2"	CYP2DL1, CYP2D7P2, CYP2D7BP, CYP2D8P2, CYP2D7AP		8449513	Standard	NM_000106		Approved	CPD6, P450-DB1, CYP2D, P450C2D	uc003bce.3	P10635	OTTHUMG00000150918	ENST00000360608.5:c.487G>A	22.37:g.42525053C>T	ENSP00000353820:p.Ala163Thr		Q16752|Q2XND6|Q2XND7|Q2XNE0|Q6B012|Q6NXU8	Missense_Mutation	SNP	ENST00000360608.5	37	CCDS46721.1	.	.	.	.	.	.	.	.	.	.	c	13.04	2.117873	0.37339	.	.	ENSG00000100197	ENST00000360608;ENST00000389970;ENST00000413640	T;T	0.68765	-0.35;-0.35	3.37	2.35	0.29111	.	0.598136	0.15077	N	0.281880	T	0.64125	0.2570	L	0.53617	1.68	0.42544	D	0.993086	D	0.67145	0.996	P	0.47864	0.559	T	0.65261	-0.6211	10	0.56958	D	0.05	.	8.8621	0.35265	0.0:0.8829:0.0:0.1171	.	163	Q6NWU0	.	T	163;163;112	ENSP00000353820:A163T;ENSP00000374620:A163T	ENSP00000353820:A163T	A	-	1	0	CYP2D6	40854997	0.998000	0.40836	0.840000	0.33206	0.020000	0.10135	4.220000	0.58567	0.987000	0.38709	0.305000	0.20034	GCC		0.667	CYP2D6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320525.1			T	42525053	C	T	42525053	3	4	734	1	0	0	0	0	1	0	0	0	4171	768	27	1	1034	1	CYP2D6	22	42525053	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	49151	42525053	8779513	1074	42493											
TCF20	6942	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	22	42607545	42607545	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:42607545C>T	ENST00000359486.3	-	1	3903	c.3767G>A	c.(3766-3768)cGt>cAt	p.R1256H	TCF20_ENST00000404876.1_5'Flank|TCF20_ENST00000335626.4_Missense_Mutation_p.R1256H	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1256					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						AGAACGAACACGCCTCCTCAT	0.453																																																0													146	134	138					22																	42607545		2203	4300	6503	SO:0001583	missense	6942			U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"stromelysin-1 platelet-derived growth factor-responsive element binding protein"	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.3767G>A	22.37:g.42607545C>T	ENSP00000352463:p.Arg1256His		A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	37	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.985812	0.74589	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.73575	-0.76;-0.75	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000002	D	0.84092	0.5396	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.991	D	0.84556	0.0647	10	0.87932	D	0	-15.6878	19.6556	0.95837	0.0:1.0:0.0:0.0	.	1256;1256	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	H	1256	ENSP00000352463:R1256H;ENSP00000335561:R1256H	ENSP00000335561:R1256H	R	-	2	0	TCF20	40937489	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.065000	0.76727	2.882000	0.98803	0.655000	0.94253	CGT		0.453	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		T	42607545	C	T	42607545	3	4	734	1	0	0	0	0	1	0	0	0	15695	536	19	1	2153	1	TCF20	22	42607545	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	82492	42607545	8697021	1075	42494											
POLDIP3	84271	broad.mit.edu	37	22	42987962	42987962	+	Splice_Site	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:42987962G>A	ENST00000252115.5	-	7	1124	c.1020C>T	c.(1018-1020)gaC>gaT	p.D340D	POLDIP3_ENST00000451060.2_Splice_Site_p.D184D|POLDIP3_ENST00000348657.2_Splice_Site_p.D311D|POLDIP3_ENST00000491021.1_5'UTR|POLDIP3_ENST00000339677.6_Intron	NM_032311.3	NP_115687.2	Q9BY77	PDIP3_HUMAN	polymerase (DNA-directed), delta interacting protein 3	340	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				poly(A)+ mRNA export from nucleus (GO:0016973)|positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						CTAACTTACCGTCCAGACACC	0.542																																					Ovarian(52;967 1128 5875 19997 42537)											0													238	191	207					22																	42987962		2203	4300	6503	SO:0001630	splice_region_variant	84271				CCDS14038.1, CCDS14039.1, CCDS74873.1	22q13.31	2013-02-12			ENSG00000100227	ENSG00000100227		"RNA binding motif (RRM) containing"	23782	protein-coding gene	gene with protein product		611520				12522211	Standard	NM_032311		Approved	PDIP46, KIAA1649	uc003bcu.3	Q9BY77	OTTHUMG00000150887	ENST00000252115.5:c.1021+1C>T	22.37:g.42987962G>A			A8K6F8|A8K6V9|Q009A7|Q5H972|Q6PGN6|Q7Z6Z0|Q9NSP5|Q9NSP6	Silent	SNP	ENST00000252115.5	37	CCDS14038.1																																																																																				0.542	POLDIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320433.1	NM_032311	Silent	A	42987962	G	A	42987962	5	1	734	1	0	0	0	0	0	0	1	0	12197	1159	40	1	257	1	POLDIP3	22	42987962	Splice_Site	SNP	G	TCGA-KN-8428-01A-11D-2310-10	380417	42987962	8316604	1076	42495											
ARFGAP3	26286	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	22	43236982	43236982	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:43236982G>A	ENST00000263245.5	-	3	448	c.229C>T	c.(229-231)Cga>Tga	p.R77*	ARFGAP3_ENST00000437119.2_Nonsense_Mutation_p.R77*|ARFGAP3_ENST00000429508.2_Nonsense_Mutation_p.R77*	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	77	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|protein secretion (GO:0009306)|regulation of ARF GTPase activity (GO:0032312)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						TGCATGCATCGCAACTGAAAC	0.353																																					GBM(58;544 1030 21460 27159 48838)											0													92	80	84					22																	43236982		2203	4300	6503	SO:0001587	stop_gained	26286			AK002083	CCDS14042.1, CCDS46722.1	22q13.2	2009-11-30	2002-08-20	2002-08-23	ENSG00000242247	ENSG00000242247		"ADP-ribosylation factor GTPase activating proteins"	661	protein-coding gene	gene with protein product		612439	"ADP-ribosylation factor GTPase activating protein 1"	ARFGAP1		10704287, 11172815	Standard	NM_014570		Approved		uc003bdd.2	Q9NP61	OTTHUMG00000150718	ENST00000263245.5:c.229C>T	22.37:g.43236982G>A	ENSP00000263245:p.Arg77*		E9PB03|Q9BSC6|Q9H9J0|Q9NT10|Q9NUP5|Q9Y4V3|Q9Y4V4	Nonsense_Mutation	SNP	ENST00000263245.5	37	CCDS14042.1	.	.	.	.	.	.	.	.	.	.	g	26.1	4.700696	0.88924	.	.	ENSG00000242247	ENST00000263245;ENST00000429508;ENST00000437119;ENST00000454099;ENST00000435208	.	.	.	5.22	2.97	0.34412	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.2764	0.49170	0.0:0.0:0.3933:0.6066	.	.	.	.	X	77;77;77;77;55	.	ENSP00000263245:R77X	R	-	1	2	ARFGAP3	41566926	1.000000	0.71417	0.757000	0.31301	0.901000	0.52897	3.349000	0.52217	1.149000	0.42402	0.580000	0.79431	CGA		0.353	ARFGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319747.2	NM_014570		A	43236982	G	A	43236982	4	1	734	1	0	0	0	0	0	1	0	0	851	1095	38	1	1377	1	ARFGAP3	22	43236982	Nonsense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	249020	43236982	8067584	1077	42496											
TSPO	706	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	22	43558971	43558971	+	Missense_Mutation	SNP	C	C	T	rs41371752	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:43558971C>T	ENST00000396265.3	+	3	378	c.203C>T	c.(202-204)gCg>gTg	p.A68V	TSPO_ENST00000583777.1_Missense_Mutation_p.R58C|TSPO_ENST00000329563.4_Missense_Mutation_p.R162C|TSPO_ENST00000337554.3_Missense_Mutation_p.R162C			B1AH88	TSPOB_HUMAN	translocator protein (18kDa)	68					adrenal gland development (GO:0030325)|aging (GO:0007568)|behavioral response to pain (GO:0048266)|cellular hypotonic response (GO:0071476)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to zinc ion (GO:0071294)|chloride transport (GO:0006821)|contact inhibition (GO:0060242)|glial cell migration (GO:0008347)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of tumor necrosis factor production (GO:0032720)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of necrotic cell death (GO:0010940)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|regulation of steroid biosynthetic process (GO:0050810)|response to drug (GO:0042493)|response to manganese ion (GO:0010042)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to vitamin B1 (GO:0010266)|steroid biosynthetic process (GO:0006694)	mitochondrial outer membrane (GO:0005741)	androgen binding (GO:0005497)|benzodiazepine receptor activity (GO:0008503)			endometrium(1)|prostate(1)	2		Ovarian(80;0.0694)				CCATGGCTGGCGTGGGGGACG	0.677																																																0													27	21	23					22																	43558971		2189	4284	6473	SO:0001583	missense	706			AF075589	CCDS33661.1	22q13.3	2006-07-12	2006-07-12	2006-07-12	ENSG00000100300	ENSG00000100300			1158	protein-coding gene	gene with protein product	"peripheral-type benzodiazepine receptor/recognition site"	109610	"benzodiazapine receptor (peripheral)"	BZRP		1326278, 1847678, 16822554	Standard	NM_000714		Approved	PBR, MBR, PKBS, mDRC, DBI, IBP, pk18	uc003bdo.4	B1AH88	OTTHUMG00000150573	ENST00000396265.3:c.203C>T	22.37:g.43558971C>T	ENSP00000379563:p.Ala68Val		Q13849|Q6IAZ7	Missense_Mutation	SNP	ENST00000396265.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.92|14.92	2.678935|2.678935	0.47886|0.47886	.|.	.|.	ENSG00000100300|ENSG00000100300	ENST00000396265|ENST00000337554;ENST00000329563	T|T;T	0.54479|0.24538	0.57|1.85;1.85	4.38|4.38	3.35|3.35	0.38373|0.38373	.|.	.|0.339156	.|0.29192	.|N	.|0.012880	T|T	0.27629|0.27629	0.0679|0.0679	L|L	0.54323|0.54323	1.7|1.7	0.09310|0.09310	N|N	1|1	D|D	0.71674|0.65815	0.998|0.995	P|P	0.59948|0.46339	0.866|0.513	T|T	0.11518|0.11518	-1.0584|-1.0584	9|10	0.87932|0.59425	D|D	0|0.04	-12.9691|-12.9691	9.6469|9.6469	0.39872|0.39872	0.4008:0.5992:0.0:0.0|0.4008:0.5992:0.0:0.0	.|.	68|162	B1AH88|P30536	TSPOB_HUMAN|TSPOA_HUMAN	V|C	68|162	ENSP00000379563:A68V|ENSP00000338004:R162C;ENSP00000328973:R162C	ENSP00000379563:A68V|ENSP00000328973:R162C	A|R	+|+	2|1	0|0	TSPO|TSPO	41888915|41888915	0.327000|0.327000	0.24678|0.24678	0.029000|0.029000	0.17559|0.17559	0.070000|0.070000	0.16714|0.16714	1.141000|1.141000	0.31528|0.31528	1.156000|1.156000	0.42514|0.42514	0.655000|0.655000	0.94253|0.94253	GCG|CGT		0.677	TSPO-201	KNOWN	basic	protein_coding	protein_coding		NM_007311		T	43558971	C	T	43558971	3	4	734	1	0	0	0	0	1	0	0	0	16660	768	27	1	494	1	TSPO	22	43558971	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	321989	43558971	7745595	1078	42497											
CELSR1	9620	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	22	46806300	46806300	+	Missense_Mutation	SNP	C	C	T	rs368495315		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:46806300C>T	ENST00000262738.3	-	7	4927	c.4928G>A	c.(4927-4929)cGg>cAg	p.R1643Q		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1643	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)		CGTACCTTCCCGGGTGCCATT	0.627																																																0								C	GLN/ARG	4,4402	6.2+/-15.9	0,4,2199	92	82	85		4928	-2.2	0.8	22		85	0,8600		0,0,4300	no	missense	CELSR1	NM_014246.1	43	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	possibly-damaging	1643/3015	46806300	4,13002	2203	4300	6503	SO:0001583	missense	9620			AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.4928G>A	22.37:g.46806300C>T	ENSP00000262738:p.Arg1643Gln		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	C	2.193	-0.384861	0.04966	9.08E-4	0.0	ENSG00000075275	ENST00000262738	D	0.87334	-2.24	4.41	-2.16	0.07080	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.953479	0.08591	N	0.923106	T	0.66056	0.2751	N	0.11201	0.11	0.09310	N	0.999999	P	0.34587	0.458	B	0.28849	0.095	T	0.58059	-0.7703	10	0.23302	T	0.38	.	1.3803	0.02229	0.2552:0.428:0.1032:0.2136	.	1643	Q9NYQ6	CELR1_HUMAN	Q	1643	ENSP00000262738:R1643Q	ENSP00000262738:R1643Q	R	-	2	0	CELSR1	45184964	0.000000	0.05858	0.843000	0.33291	0.036000	0.12997	-0.232000	0.09055	-0.130000	0.11599	-0.710000	0.03640	CGG		0.627	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		T	46806300	C	T	46806300	3	4	734	1	0	0	0	0	1	0	0	0	3223	652	23	1	4232	1	CELSR1	22	46806300	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	3247329	46806300	4498266	1079	42498											
TBC1D22A	25771	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	22	47189694	47189694	+	Missense_Mutation	SNP	G	G	A	rs535972526		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:47189694G>A	ENST00000337137.4	+	3	582	c.416G>A	c.(415-417)cGg>cAg	p.R139Q	TBC1D22A_ENST00000380995.1_Missense_Mutation_p.R92Q|TBC1D22A_ENST00000406733.1_Missense_Mutation_p.R92Q|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.R120Q|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.R139Q	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	139							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)		GGCGACCTCCGGCTGGTGAAG	0.667																																																0													10	12	11					22																	47189694		2124	4155	6279	SO:0001583	missense	25771			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.416G>A	22.37:g.47189694G>A	ENSP00000336724:p.Arg139Gln		B0QYI2|B0QYI3|B9A6M3|Q5TE47|Q6ZUH2|Q92680|Q9BVD6|Q9UGG0|Q9UGT2|Q9UGU6|Q9UH25|Q9Y4W5	Missense_Mutation	SNP	ENST00000337137.4	37	CCDS14078.1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.447214	0.63178	.	.	ENSG00000054611	ENST00000337137;ENST00000380995;ENST00000407381;ENST00000355704;ENST00000406733	T;T;T;T;T	0.44881	1.87;0.91;1.84;1.82;1.92	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.40398	0.1115	M	0.77820	2.39	0.40491	D	0.980544	B;P;D;B	0.54047	0.17;0.765;0.964;0.17	B;B;B;B	0.39068	0.018;0.081;0.289;0.018	T	0.46596	-0.9180	10	0.12430	T	0.62	6.9507	14.2057	0.65732	0.0:0.0:1.0:0.0	.	139;120;139;139	B9A6M3;Q8WUA7-2;B0QYI1;Q8WUA7	.;.;.;TB22A_HUMAN	Q	139;92;139;120;92	ENSP00000336724:R139Q;ENSP00000370383:R92Q;ENSP00000384036:R139Q;ENSP00000347932:R120Q;ENSP00000385634:R92Q	ENSP00000336724:R139Q	R	+	2	0	TBC1D22A	45568358	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	6.219000	0.72231	2.367000	0.80283	0.511000	0.50034	CGG		0.667	TBC1D22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317600.3	NM_014346		A	47189694	G	A	47189694	3	1	734	1	0	0	0	0	1	0	0	0	15616	1116	39	1	426	1	TBC1D22A	22	47189694	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	383394	47189694	4114872	1080	42499											
BRD1	23774	ucsc.edu	37	22	50217223	50217223	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:50217223A>G	ENST00000216267.8	-	1	1229	c.743T>C	c.(742-744)gTg>gCg	p.V248A	BRD1_ENST00000457780.2_Missense_Mutation_p.V248A|BRD1_ENST00000542442.1_5'Flank|BRD1_ENST00000342989.5_5'Flank|BRD1_ENST00000459821.1_5'Flank|BRD1_ENST00000404034.1_Missense_Mutation_p.V248A|BRD1_ENST00000404760.1_Missense_Mutation_p.V248A	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	248					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)		GATGTAGGGCACCCCGTAGCA	0.662																																																0													35	31	32					22																	50217223		2203	4300	6503	SO:0001583	missense	23774			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.743T>C	22.37:g.50217223A>G	ENSP00000216267:p.Val248Ala		A6ZJA4	Missense_Mutation	SNP	ENST00000216267.8	37	CCDS14080.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.334999	0.81801	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000457780	D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31	5.0	5.0	0.66597	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.93697	0.7986	M	0.85945	2.785	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	0.94314	0.7548	9	.	.	.	.	14.7	0.69150	1.0:0.0:0.0:0.0	.	248;248;248	Q86X06;O95696;O95696-2	.;BRD1_HUMAN;.	A	248	ENSP00000216267:V248A;ENSP00000384076:V248A;ENSP00000385858:V248A;ENSP00000410042:V248A	.	V	-	2	0	BRD1	48603227	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	8.769000	0.91742	1.882000	0.54519	0.383000	0.25322	GTG		0.662	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	NM_014577		G	50217223	A	G	50217223	3	3	734	1	0	0	0	0	1	0	0	0	1503	159	6	3	2481	3	BRD1	22	50217223	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	3027529	50217223	1087343	1081	42500											
PANX2	56666	broad.mit.edu	37	22	50617544	50617544	+	Silent	SNP	G	G	A	rs114447696	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:50617544G>A	ENST00000395842.2	+	3	1872	c.1872G>A	c.(1870-1872)ccG>ccA	p.P624P	PANX2_ENST00000159647.5_Silent_p.P624P	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN	pannexin 2	624					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)		CCACACACCCGCTGCTGCACA	0.716													G|||	4	0.000798722	0.0	0.0	5008	,	,		14056	0.003		0.0	False		,,,				2504	0.001															0													43	40	41					22																	50617544		2197	4298	6495	SO:0001819	synonymous_variant	56666				CCDS14085.2, CCDS54544.1	22q13.33	2011-12-05			ENSG00000073150	ENSG00000073150		"Ion channels / Pannexins"	8600	protein-coding gene	gene with protein product		608421				14702039, 14597722	Standard	NM_052839		Approved	hPANX2, PX2	uc003bjn.4	Q96RD6	OTTHUMG00000044649	ENST00000395842.2:c.1872G>A	22.37:g.50617544G>A			B7Z684|Q96RD5|Q9UGX8	Silent	SNP	ENST00000395842.2	37	CCDS14085.2																																																																																				0.716	PANX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075010.3	NM_052839		A	50617544	G	A	50617544	2	1	734	1	0	0	0	0	0	0	0	1	11423	1074	38	1		1	PANX2	22	50617544	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	400321	50617544	687022	1082	42501											
TUBGCP6	85378	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	22	50664592	50664592	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:50664592C>T	ENST00000248846.5	-	9	1824	c.1720G>A	c.(1720-1722)Gtg>Atg	p.V574M	TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000439308.2_Missense_Mutation_p.V574M			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	574					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)		GAGATGAGCACGTAGCCATGT	0.557																																																0													241	225	231					22																	50664592		2203	4300	6503	SO:0001583	missense	85378			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.1720G>A	22.37:g.50664592C>T	ENSP00000248846:p.Val574Met		Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP	ENST00000248846.5	37	CCDS14087.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.343671	0.61073	.	.	ENSG00000128159	ENST00000248846;ENST00000439308	T;T	0.08458	3.09;3.09	5.04	4.01	0.46588	.	0.292321	0.33290	N	0.005065	T	0.11623	0.0283	L	0.59436	1.845	0.36269	D	0.855028	P;D	0.54207	0.929;0.965	B;B	0.42995	0.329;0.404	T	0.19712	-1.0297	10	0.45353	T	0.12	.	13.7035	0.62624	0.0:0.9239:0.0:0.0761	.	574;574	B2RWN4;Q96RT7	.;GCP6_HUMAN	M	574	ENSP00000248846:V574M;ENSP00000397387:V574M	ENSP00000248846:V574M	V	-	1	0	TUBGCP6	49006719	1.000000	0.71417	1.000000	0.80357	0.656000	0.38851	2.274000	0.43390	1.109000	0.41680	0.462000	0.41574	GTG		0.557	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		T	50664592	C	T	50664592	3	4	734	1	0	0	0	0	1	0	0	0	16775	536	19	1	3807	1	TUBGCP6	22	50664592	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	47048	50664592	639974	1083	42502											
PLXNB2	23654	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	22	50720400	50720400	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:50720400G>A	ENST00000449103.1	-	20	3368	c.3228C>T	c.(3226-3228)gaC>gaT	p.D1076D	PLXNB2_ENST00000359337.4_Silent_p.D1076D|PLXNB2_ENST00000496720.1_5'Flank			O15031	PLXB2_HUMAN	plexin B2	1076	IPT/TIG 3.				brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		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)		CACGGTGCCCGTCCATCTCGA	0.597																																																0													54	60	58					22																	50720400		2083	4193	6276	SO:0001819	synonymous_variant	23654				CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"Plexins"	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.3228C>T	22.37:g.50720400G>A			A6QRH0|Q7KZU3|Q9BSU7	Silent	SNP	ENST00000449103.1	37	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	G	8.224	0.803093	0.16397	.	.	ENSG00000196576	ENST00000427829	.	.	.	4.63	-2.52	0.06346	.	.	.	.	.	T	0.55657	0.1934	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54682	-0.8257	4	.	.	.	.	10.9952	0.47571	0.6569:0.0:0.3431:0.0	.	.	.	.	M	94	.	.	T	-	2	0	PLXNB2	49062527	1.000000	0.71417	0.997000	0.53966	0.684000	0.39900	0.683000	0.25349	-0.211000	0.10124	0.313000	0.20887	ACG		0.597	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		A	50720400	G	A	50720400	2	1	734	1	0	0	0	0	0	0	0	1	12126	1136	40	1		1	PLXNB2	22	50720400	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	55808	50720400	584166	1084	42503											
PLXNB2	23654	hgsc.bcm.edu	37	22	50726135	50726135	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:50726135G>A	ENST00000449103.1	-	7	1709	c.1569C>T	c.(1567-1569)agC>agT	p.S523S	PLXNB2_ENST00000359337.4_Silent_p.S523S|PLXNB2_ENST00000496720.1_5'Flank			O15031	PLXB2_HUMAN	plexin B2	523					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		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)		GTGGCTGGGCGCTGGTGACGG	0.746																																																0													3	4	4					22																	50726135		1668	3672	5340	SO:0001819	synonymous_variant	23654				CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"Plexins"	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.1569C>T	22.37:g.50726135G>A			A6QRH0|Q7KZU3|Q9BSU7	Silent	SNP	ENST00000449103.1	37	CCDS43035.1																																																																																				0.746	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		A	50726135	G	A	50726135	2	1	734	1	0	0	0	0	0	0	0	1	12126	1078	38	1		1	PLXNB2	22	50726135	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	5735	50726135	578431	1085	42504											
ARSA	410	broad.mit.edu	37	22	51064679	51064679	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:51064679G>A	ENST00000547307.1	-	5	1281	c.876C>T	c.(874-876)ggC>ggT	p.G292G	ARSA_ENST00000356098.5_Silent_p.G294G|ARSA_ENST00000395619.3_Silent_p.G294G|ARSA_ENST00000547805.1_Silent_p.G292G|ARSA_ENST00000395621.3_Silent_p.G294G|ARSA_ENST00000453344.2_Silent_p.G208G|ARSA_ENST00000610191.1_5'Flank|ARSA_ENST00000216124.5_Silent_p.G294G			P15289	ARSA_HUMAN	arylsulfatase A	292					autophagy (GO:0006914)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to methylmercury (GO:0051597)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum lumen (GO:0005788)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|cerebroside-sulfatase activity (GO:0004098)|sulfuric ester hydrolase activity (GO:0008484)			endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		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)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)|Suramin(DB04786)	CGGAGCAGCCGCCTCGGGACA	0.652																																																0													48	44	45					22																	51064679		2203	4300	6503	SO:0001819	synonymous_variant	410			X52150	CCDS14100.1, CCDS46736.1, CCDS14100.2	22q13.33	2013-09-19			ENSG00000100299	ENSG00000100299	3.1.6.8	"Arylsulfatase family"	713	protein-coding gene	gene with protein product	"metachromatic leucodystrophy"	607574				15772092	Standard	NM_000487		Approved		uc003bmz.5	P15289	OTTHUMG00000150180	ENST00000547307.1:c.876C>T	22.37:g.51064679G>A			B2RCA6|B7XD04|F8WCC8|Q6ICI5|Q96CJ0	Silent	SNP	ENST00000547307.1	37																																																																																					0.652	ARSA-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000487		A	51064679	G	A	51064679	2	1	734	1	0	0	0	0	0	0	0	1	987	1074	38	1		1	ARSA	22	51064679	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	338544	51064679	239887	1086	42505											
SHANK3	85358	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	22	51117231	51117231	+	Silent	SNP	C	C	T	rs79762996	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:51117231C>T	ENST00000414786.2	+	5	710	c.483C>T	c.(481-483)aaC>aaT	p.N161N	SHANK3_ENST00000262795.3_Silent_p.N161N|SHANK3_ENST00000445220.2_Silent_p.N161N			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	161					adult behavior (GO:0030534)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|brain morphogenesis (GO:0048854)|dendritic spine morphogenesis (GO:0060997)|guanylate kinase-associated protein clustering (GO:0097117)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell volume (GO:0045794)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glutamate receptor signaling pathway (GO:1900451)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse structural plasticity (GO:0051835)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density assembly (GO:0097107)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of long term synaptic depression (GO:1900452)|regulation of long-term synaptic potentiation (GO:1900271)|social behavior (GO:0035176)|striatal medium spiny neuron differentiation (GO:0021773)|synapse assembly (GO:0007416)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|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)		BRCA - Breast invasive adenocarcinoma(115;0.22)		AGCTGGACAACGCCACGGACC	0.652													C|||	16	0.00319489	0.0	0.0014	5008	,	,		19825	0.0149		0.0	False		,,,				2504	0.0															0													42	46	45					22																	51117231		2155	4252	6407	SO:0001819	synonymous_variant	85358			AB051437		22q13.3	2013-11-14			ENSG00000251322	ENSG00000251322		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14294	protein-coding gene	gene with protein product	"proline rich synapse associated protein 2", "shank postsynaptic density protein"	606230				11258795, 11431708, 10806096, 17173049	Standard	NM_033517		Approved	SPANK-2, prosap2, KIAA1650, PSAP2	uc031ryd.1	Q9BYB0	OTTHUMG00000150169	ENST00000414786.2:c.483C>T	22.37:g.51117231C>T			D7UT47|Q8TET3	Silent	SNP	ENST00000414786.2	37																																																																																					0.652	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000316674.2	NM_001080420		T	51117231	C	T	51117231	2	4	734	1	0	0	0	0	0	0	0	1	14272	535	19	1		1	SHANK3	22	51117231	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	52552	51117231	187335	1087	42506											
SLC25A6	293	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	X	1506261	1506261	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:1506261G>A	ENST00000381401.5	-	3	1364	c.650C>T	c.(649-651)gCg>gTg	p.A217V	SLC25A6_ENST00000475167.1_5'UTR	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	217					active induction of host immune response by virus (GO:0046732)|ADP transport (GO:0015866)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|modulation by virus of host morphology or physiology (GO:0019048)|protein targeting to mitochondrion (GO:0006626)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP:ADP antiporter activity (GO:0005471)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	CACGGTCTGCGCGATCATCCA	0.692																																																0													114	98	104					X																	1506261		2203	4296	6499	SO:0001583	missense	293			AY007135	CCDS14114.1	Xp22.32 and Yp11.3	2013-05-22			ENSG00000169100	ENSG00000169100		"Pseudoautosomal regions / PAR1", "Solute carriers"	10992	protein-coding gene	gene with protein product		300151, 403000		ANT3			Standard	NM_001636		Approved	ANT3Y, MGC17525	uc004cpt.3	P12236	OTTHUMG00000021058	ENST00000381401.5:c.650C>T	X.37:g.1506261G>A	ENSP00000370808:p.Ala217Val		Q96C49	Missense_Mutation	SNP	ENST00000381401.5	37	CCDS14114.1	.	.	.	.	.	.	.	.	.	.	.	22.2	4.252145	0.80135	.	.	ENSG00000169100	ENST00000381401	T	0.80566	-1.39	1.87	1.87	0.25490	Mitochondrial carrier domain (2);	0.000000	0.53938	U	0.000046	D	0.90184	0.6932	H	0.99444	4.57	0.09310	N	1	D	0.76494	0.999	P	0.48921	0.595	D	0.84987	0.0892	10	0.87932	D	0	.	12.0724	0.53624	0.0:0.0:1.0:0.0	.	217	P12236	ADT3_HUMAN	V	217	ENSP00000370808:A217V	ENSP00000370808:A217V	A	-	2	0	SLC25A6	1466261	1.000000	0.71417	0.650000	0.29550	0.657000	0.38888	7.381000	0.79718	0.987000	0.38709	0.409000	0.27619	GCG		0.692	SLC25A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055596.1	NM_001636		A	1506261	G	A	1506261	3	1	734	1	0	0	0	0	1	0	0	0	14519	1087	38	1	254	1	SLC25A6	23	1506261	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10		1506261	153764299	1088	42507											
ARSH	347527	broad.mit.edu	37	X	2933300	2933300	+	Silent	SNP	C	C	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:2933300C>A	ENST00000381130.2	+	4	630	c.630C>A	c.(628-630)tcC>tcA	p.S210S		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	210					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)|integral component of membrane (GO:0016021)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		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)				TTTTCACTTCCTGGTACTCTA	0.453																																																0													189	126	148					X																	2933300		2203	4300	6503	SO:0001819	synonymous_variant	347527			AY875940	CCDS35198.1	Xp22.33	2013-02-14	2006-03-07		ENSG00000205667	ENSG00000205667		"Arylsulfatase family"	32488	protein-coding gene	gene with protein product		300586	"arylsulfatase H"			16174644	Standard	NM_001011719		Approved		uc011mhj.2	Q5FYA8	OTTHUMG00000159612	ENST00000381130.2:c.630C>A	X.37:g.2933300C>A				Silent	SNP	ENST00000381130.2	37	CCDS35198.1																																																																																				0.453	ARSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356489.1	NM_001011719		A	2933300	C	A	2933300	2	1	734	1	0	0	0	0	0	0	0	1	993	668	24	4		4	ARSH	23	2933300	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1427039	2933300	152337260	1089	42508											
NLGN4X	57502	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	X	5827148	5827148	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:5827148G>A	ENST00000381095.3	-	4	1385	c.758C>T	c.(757-759)tCg>tTg	p.S253L	NLGN4X_ENST00000381092.1_Missense_Mutation_p.S253L|NLGN4X_ENST00000275857.6_Missense_Mutation_p.S253L|NLGN4X_ENST00000538097.1_Missense_Mutation_p.S253L|NLGN4X_ENST00000381093.2_Missense_Mutation_p.S273L	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	253					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						CCCAGCCCCCGAGCCAAAGAT	0.587																																																0													68	63	65					X																	5827148		2203	4300	6503	SO:0001583	missense	57502			AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"neuroligin 4"	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.758C>T	X.37:g.5827148G>A	ENSP00000370485:p.Ser253Leu		Q6UX10|Q9ULG0	Missense_Mutation	SNP	ENST00000381095.3	37	CCDS14126.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.300364	0.60195	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;-0.29	3.48	3.48	0.39840	Carboxylesterase, type B (1);	.	.	.	.	T	0.75620	0.3874	L	0.47716	1.5	0.58432	D	0.999998	D;D;D	0.89917	0.981;1.0;0.998	P;D;P	0.83275	0.698;0.996;0.774	T	0.78237	-0.2282	9	0.66056	D	0.02	.	13.8719	0.63624	0.0:0.0:1.0:0.0	.	310;253;273	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	L	253;273;253;253;253	ENSP00000370485:S253L;ENSP00000370483:S273L;ENSP00000275857:S253L;ENSP00000370482:S253L;ENSP00000439203:S253L	ENSP00000275857:S253L	S	-	2	0	NLGN4X	5837148	1.000000	0.71417	0.648000	0.29521	0.217000	0.24651	8.345000	0.90057	1.508000	0.48769	0.600000	0.82982	TCG		0.587	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742		A	5827148	G	A	5827148	3	1	734	1	0	0	0	0	1	0	0	0	10466	1059	37	1	1704	1	NLGN4X	23	5827148	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	2893848	5827148	149443412	1090	42509											
ATXN3L	92552	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	X	13337345	13337345	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:13337345G>A	ENST00000380622.2	-	1	1173	c.709C>T	c.(709-711)Cgc>Tgc	p.R237C	GS1-600G8.3_ENST00000431486.1_RNA	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	237					protein deubiquitination (GO:0016579)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	omega peptidase activity (GO:0008242)|ubiquitin-specific protease activity (GO:0004843)			endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						GTTTCTTGGCGGCTTAGTTCA	0.423																																																0													277	251	259					X																	13337345		1568	3582	5150	SO:0001583	missense	92552				CCDS48080.1	Xp22	2010-09-30			ENSG00000123594	ENSG00000123594			24173	protein-coding gene	gene with protein product		300920					Standard	NM_001135995		Approved	MJDL	uc010ned.3	Q9H3M9	OTTHUMG00000021146	ENST00000380622.2:c.709C>T	X.37:g.13337345G>A	ENSP00000369996:p.Arg237Cys		B2RNY8	Missense_Mutation	SNP	ENST00000380622.2	37	CCDS48080.1	.	.	.	.	.	.	.	.	.	.	g	8.243	0.807365	0.16467	.	.	ENSG00000123594	ENST00000380622	T	0.21031	2.03	0.793	0.793	0.18632	Ubiquitin interacting motif (3);	0.000000	0.85682	D	0.000000	T	0.16769	0.0403	L	0.47190	1.495	0.58432	D	0.999997	P	0.47545	0.897	B	0.43701	0.428	T	0.03524	-1.1028	10	0.87932	D	0	.	3.7528	0.08573	0.0:1.0E-4:0.5717:0.4282	.	237	Q9H3M9	ATX3L_HUMAN	C	237	ENSP00000369996:R237C	ENSP00000369996:R237C	R	-	1	0	ATXN3L	13247266	0.829000	0.29322	0.002000	0.10522	0.004000	0.04260	0.433000	0.21477	0.661000	0.30985	0.417000	0.27973	CGC		0.423	ATXN3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055785.2	NM_001135995		A	13337345	G	A	13337345	3	1	734	1	0	0	0	0	1	0	0	0	1214	1116	39	1	362	1	ATXN3L	23	13337345	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	7510197	13337345	141933215	1091	42510											
KLHL34	257240	hgsc.bcm.edu	37	X	21675168	21675168	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:21675168G>A	ENST00000379499.2	-	1	1280	c.739C>T	c.(739-741)Cgg>Tgg	p.R247W		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	247						extracellular space (GO:0005615)				cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						CCCTTGACCCGGGCGGGCAGC	0.682																																																0													18	19	18					X																	21675168		2198	4293	6491	SO:0001583	missense	257240			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.739C>T	X.37:g.21675168G>A	ENSP00000368813:p.Arg247Trp			Missense_Mutation	SNP	ENST00000379499.2	37	CCDS14199.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.476305	0.26511	.	.	ENSG00000185915	ENST00000379499	T	0.73258	-0.73	4.65	3.76	0.43208	.	0.431057	0.22852	N	0.054854	T	0.59932	0.2230	N	0.22421	0.69	0.09310	N	1	D	0.76494	0.999	P	0.52672	0.706	T	0.55673	-0.8104	10	0.72032	D	0.01	.	1.0565	0.01591	0.1687:0.1555:0.3336:0.3422	.	247	Q8N239	KLH34_HUMAN	W	247	ENSP00000368813:R247W	ENSP00000368813:R247W	R	-	1	2	KLHL34	21585089	0.000000	0.05858	0.118000	0.21660	0.405000	0.30901	0.188000	0.17018	0.909000	0.36697	0.422000	0.28245	CGG		0.682	KLHL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056022.1	NM_153270		A	21675168	G	A	21675168	3	1	734	1	0	0	0	0	1	0	0	0	8389	1115	39	1	1199	1	KLHL34	23	21675168	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	8337823	21675168	133595392	1092	42511											
CXorf22	170063	mdanderson.org;bcgsc.ca	37	X	35944236	35944236	+	Missense_Mutation	SNP	C	C	T	rs368440669		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:35944236C>T	ENST00000297866.5	+	2	418	c.352C>T	c.(352-354)Cgg>Tgg	p.R118W		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	118										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						CACTTTTGACCGGCTACTTAT	0.348																																																0													61	57	58					X																	35944236		2202	4300	6502	SO:0001583	missense	170063			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.352C>T	X.37:g.35944236C>T	ENSP00000297866:p.Arg118Trp		Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	C	11.10	1.538677	0.27475	.	.	ENSG00000165164	ENST00000297866	T	0.16073	2.37	4.73	2.49	0.30216	.	0.493349	0.22804	N	0.055437	T	0.23492	0.0568	L	0.50333	1.59	0.09310	N	1	D	0.76494	0.999	P	0.56700	0.804	T	0.03784	-1.1004	10	0.51188	T	0.08	-6.9226	5.4006	0.16293	0.3062:0.5041:0.1897:0.0	.	118	Q6ZTR5	CX022_HUMAN	W	118	ENSP00000297866:R118W	ENSP00000297866:R118W	R	+	1	2	CXorf22	35854157	0.000000	0.05858	0.015000	0.15790	0.006000	0.05464	0.120000	0.15647	0.851000	0.35264	0.529000	0.55759	CGG		0.348	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		T	35944236	C	T	35944236	3	4	734	1	0	0	0	0	1	0	0	0	4104	643	23	1	358	1	CXorf22	23	35944236	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	14269068	35944236	119326324	1093	42512											
FAM47C	442444	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	X	37028375	37028375	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:37028375G>A	ENST00000358047.3	+	1	1944	c.1892G>A	c.(1891-1893)cGc>cAc	p.R631H		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	631										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						TCCCATCTCCGCCCAGAGCCT	0.637																																																0													30	35	33					X																	37028375		2147	4213	6360	SO:0001583	missense	442444			AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1892G>A	X.37:g.37028375G>A	ENSP00000367913:p.Arg631His		Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	10.60	1.394681	0.25205	.	.	ENSG00000198173	ENST00000358047	T	0.15834	2.39	1.67	-3.33	0.04958	.	.	.	.	.	T	0.07098	0.0180	N	0.10685	0.025	0.09310	N	1	P	0.37781	0.608	B	0.37387	0.248	T	0.29792	-1.0000	9	0.39692	T	0.17	.	5.1076	0.14793	0.1894:0.5823:0.2283:0.0	.	631	Q5HY64	FA47C_HUMAN	H	631	ENSP00000367913:R631H	ENSP00000367913:R631H	R	+	2	0	FAM47C	36938296	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-2.462000	0.00997	-0.572000	0.06006	0.414000	0.27820	CGC		0.637	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		A	37028375	G	A	37028375	3	1	734	1	0	0	0	0	1	0	0	0	5573	1087	38	1	1894	1	FAM47C	23	37028375	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1084139	37028375	118242185	1094	42513											
CCDC22	28952	broad.mit.edu;mdanderson.org	37	X	49106626	49106626	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:49106626C>T	ENST00000376227.3	+	17	1958	c.1788C>T	c.(1786-1788)ggC>ggT	p.G596G		NM_014008.3	NP_054727.1	O60826	CCD22_HUMAN	coiled-coil domain containing 22	596										NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	18						CAGAGCTGGGCAAGAAGACCC	0.637																																																0													47	37	40					X																	49106626		2096	4057	6153	SO:0001819	synonymous_variant	28952			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.1788C>T	X.37:g.49106626C>T			A8K7G1	Silent	SNP	ENST00000376227.3	37	CCDS14322.1																																																																																				0.637	CCDC22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060822.1	NM_014008		T	49106626	C	T	49106626	2	4	734	1	0	0	0	0	0	0	0	1	2799	697	25	2		2	CCDC22	23	49106626	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	12078251	49106626	106163934	1095	42514											
HUWE1	10075	broad.mit.edu;bcgsc.ca	37	X	53615355	53615355	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:53615355G>A	ENST00000342160.3	-	36	5058	c.4601C>T	c.(4600-4602)aCg>aTg	p.T1534M	HUWE1_ENST00000218328.8_Missense_Mutation_p.T1534M|HUWE1_ENST00000262854.6_Missense_Mutation_p.T1534M			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1534					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						AAAAAGTAGCGTTAAAAGCAA	0.403																																																0													96	73	81					X																	53615355		2203	4300	6503	SO:0001583	missense	10075			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.4601C>T	X.37:g.53615355G>A	ENSP00000340648:p.Thr1534Met		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.338524	0.81911	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328	T;T;T	0.50277	1.04;1.04;0.75	5.83	5.83	0.93111	Armadillo-like helical (1);	0.119337	0.56097	D	0.000037	T	0.53802	0.1819	L	0.29908	0.895	0.80722	D	1	D;P	0.71674	0.998;0.784	P;B	0.57009	0.811;0.271	T	0.56878	-0.7906	10	0.72032	D	0.01	.	17.7172	0.88341	0.0:0.0:1.0:0.0	.	1534;1534	Q7Z6Z7;Q7Z6Z7-2	HUWE1_HUMAN;.	M	1534	ENSP00000340648:T1534M;ENSP00000262854:T1534M;ENSP00000218328:T1534M	ENSP00000218328:T1534M	T	-	2	0	HUWE1	53632080	1.000000	0.71417	0.938000	0.37757	0.939000	0.58152	9.444000	0.97578	2.457000	0.83068	0.600000	0.82982	ACG		0.403	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		A	53615355	G	A	53615355	3	1	734	1	0	0	0	0	1	0	0	0	7463	1145	40	1	8715	1	HUWE1	23	53615355	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	4508729	53615355	101655205	1096	42515											
PHF8	23133	broad.mit.edu;mdanderson.org	37	X	54012317	54012317	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:54012317G>A	ENST00000357988.5	-	17	2527	c.2169C>T	c.(2167-2169)ggC>ggT	p.G723G	PHF8_ENST00000322659.8_Intron|PHF8_ENST00000338946.6_Silent_p.G586G|PHF8_ENST00000338154.6_Silent_p.G687G	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	723					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						TGCCACCAGCGCCACTACCAT	0.552																																																0													299	195	230					X																	54012317		2203	4300	6503	SO:0001819	synonymous_variant	23133			AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	20672	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1F"	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.2169C>T	X.37:g.54012317G>A			B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Silent	SNP	ENST00000357988.5	37	CCDS55420.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.449|9.449	1.089971|1.089971	0.20390|0.20390	.|.	.|.	ENSG00000172943|ENSG00000172943	ENST00000396282;ENST00000375189|ENST00000443302	.|.	.|.	.|.	5.26|5.26	1.47|1.47	0.22746|0.22746	.|.	.|.	.|.	.|.	.|.	T|T	0.52108|0.52108	0.1714|0.1714	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.38090|0.38090	-0.9677|-0.9677	5|4	0.72032|.	D|.	0.01|.	-5.9991|-5.9991	5.6227|5.6227	0.17465|0.17465	0.0:0.1638:0.5054:0.3307|0.0:0.1638:0.5054:0.3307	.|.	.|.	.|.	.|.	V|C	591;163|451	.|.	ENSP00000364335:A163V|.	A|R	-|-	2|1	0|0	PHF8|PHF8	54029042|54029042	0.697000|0.697000	0.27767|0.27767	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	-0.320000|-0.320000	0.08028|0.08028	0.167000|0.167000	0.19631|0.19631	-0.328000|-0.328000	0.08392|0.08392	GCG|CGC		0.552	PHF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056784.2	NM_015107		A	54012317	G	A	54012317	2	1	734	1	0	0	0	0	0	0	0	1	11842	1074	38	1		1	PHF8	23	54012317	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	396962	54012317	101258243	1097	42516											
EDA2R	60401	broad.mit.edu	37	X	65819457	65819457	+	Missense_Mutation	SNP	T	T	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:65819457T>G	ENST00000374719.3	-	6	819	c.763A>C	c.(763-765)Aca>Cca	p.T255P	EDA2R_ENST00000456230.2_Missense_Mutation_p.T255P|EDA2R_ENST00000253392.5_Missense_Mutation_p.T276P|EDA2R_ENST00000451436.2_Missense_Mutation_p.T131P|EDA2R_ENST00000450752.1_Missense_Mutation_p.T276P|EDA2R_ENST00000396050.1_Missense_Mutation_p.T255P	NM_021783.3	NP_068555	Q9HAV5	TNR27_HUMAN	ectodysplasin A2 receptor	255					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						TCCAGCTCTGTGCATTCGATG	0.577																																																0													47	39	41					X																	65819457		2203	4299	6502	SO:0001583	missense	60401			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.763A>C	X.37:g.65819457T>G	ENSP00000363851:p.Thr255Pro		Q5VYX9|Q5VYY0|Q6UWM2|Q8IZA6	Missense_Mutation	SNP	ENST00000374719.3	37	CCDS14386.1	.	.	.	.	.	.	.	.	.	.	T	18.01	3.527179	0.64860	.	.	ENSG00000131080	ENST00000374719;ENST00000396050;ENST00000451436;ENST00000253392;ENST00000456230;ENST00000450752	D;D;D;D;D	0.92299	-2.63;-2.63;-3.01;-2.63;-3.01	3.7	3.7	0.42460	.	0.214563	0.22867	U	0.054663	D	0.92244	0.7540	L	0.29908	0.895	0.35532	D	0.802292	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.87578	0.991;0.998;0.921	D	0.93696	0.7011	10	0.87932	D	0	-0.5066	9.5549	0.39332	0.0:0.0:0.0:1.0	.	131;276;255	E7EUS4;Q9HAV5-2;Q9HAV5	.;.;TNR27_HUMAN	P	255;255;131;276;255;276	ENSP00000363851:T255P;ENSP00000379365:T255P;ENSP00000253392:T276P;ENSP00000393935:T255P;ENSP00000402929:T276P	ENSP00000253392:T276P	T	-	1	0	EDA2R	65736182	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.914000	0.56401	1.363000	0.46019	0.425000	0.28330	ACA		0.577	EDA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057002.1	NM_021783		G	65819457	T	G	65819457	3	3	734	1	0	0	0	0	1	0	0	0	4906	1696	59	5	134	5	EDA2R	23	65819457	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	11807140	65819457	89451103	1098	42517											
KIF4A	24137	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	X	69595076	69595076	+	Missense_Mutation	SNP	C	C	T	rs374256182		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:69595076C>T	ENST00000374403.3	+	17	1883	c.1801C>T	c.(1801-1803)Cgt>Tgt	p.R601C	KIF4A_ENST00000374388.3_Missense_Mutation_p.R601C	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	601					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						CCGCCGCAAACGTCTCCAGGA	0.473																																																0								C	CYS/ARG	1,3834		0,1,0,1631,571	71	61	65		1801	5.5	1	X		65	1,6727		0,0,1,2428,1871	no	missense	KIF4A	NM_012310.4	180	0,1,1,4059,2442	TT,TC,T,CC,C		0.0149,0.0261,0.0189	benign	601/1233	69595076	2,10561	2203	4300	6503	SO:0001583	missense	24137			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.1801C>T	X.37:g.69595076C>T	ENSP00000363524:p.Arg601Cys		B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Missense_Mutation	SNP	ENST00000374403.3	37	CCDS14401.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.951877	0.53293	2.61E-4	1.49E-4	ENSG00000090889	ENST00000374388;ENST00000374403	T;T	0.70631	2.25;-0.5	5.53	5.53	0.82687	.	0.102401	0.42821	D	0.000648	T	0.68192	0.2974	L	0.55743	1.74	0.80722	D	1	B;B	0.28713	0.033;0.22	B;B	0.35770	0.013;0.21	T	0.68511	-0.5389	10	0.56958	D	0.05	.	10.7456	0.46179	0.3019:0.6981:0.0:0.0	.	601;601	O95239;O95239-2	KIF4A_HUMAN;.	C	601	ENSP00000363509:R601C;ENSP00000363524:R601C	ENSP00000363509:R601C	R	+	1	0	KIF4A	69511801	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.564000	0.45931	2.562000	0.86427	0.600000	0.82982	CGT		0.473	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057068.1	NM_012310		T	69595076	C	T	69595076	3	4	734	1	0	0	0	0	1	0	0	0	8305	536	19	1	1863	1	KIF4A	23	69595076	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	3775619	69595076	85675484	1099	42518											
TEX11	56159	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	X	70080718	70080718	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:70080718G>A	ENST00000395889.2	-	6	513	c.358C>T	c.(358-360)Cga>Tga	p.R120*	TEX11_ENST00000344304.3_Nonsense_Mutation_p.R120*|TEX11_ENST00000374333.2_Nonsense_Mutation_p.R105*	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	120					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)		p.R105R(1)		breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					ATAATCAGTCGTTGAATACTT	0.363																																																1	Substitution - coding silent(1)	endometrium(1)											113	86	95					X																	70080718		2203	4300	6503	SO:0001587	stop_gained	56159			AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"testis expressed sequence 11"			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.358C>T	X.37:g.70080718G>A	ENSP00000379226:p.Arg120*		A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Nonsense_Mutation	SNP	ENST00000395889.2	37	CCDS35323.1	.	.	.	.	.	.	.	.	.	.	G	17.36	3.368975	0.61624	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000344304	.	.	.	4.63	3.47	0.39725	.	0.063218	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.315	7.2818	0.26316	0.0:0.0:0.2363:0.7637	.	.	.	.	X	105;120;120	.	.	R	-	1	2	TEX11	69997443	0.990000	0.36364	0.315000	0.25238	0.035000	0.12851	2.358000	0.44134	0.618000	0.30179	-0.507000	0.04495	CGA		0.363	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1			A	70080718	G	A	70080718	4	1	734	1	0	0	0	0	0	1	0	0	15779	1153	40	1	2568	1	TEX11	23	70080718	Nonsense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	485642	70080718	85189842	1100	42519											
GJB1	2705	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	X	70443744	70443744	+	Missense_Mutation	SNP	G	G	A	rs116840818		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:70443744G>A	ENST00000374022.3	+	2	282	c.187G>A	c.(187-189)Gtt>Att	p.V63I	GJB1_ENST00000361726.6_Missense_Mutation_p.V63I|GJB1_ENST00000374029.1_Missense_Mutation_p.V63I	NM_001097642.2	NP_001091111.1	P08034	CXB1_HUMAN	gap junction protein, beta 1, 32kDa	63			V -> I (in CMTX1; can be associated with Gln-22). {ECO:0000269|PubMed:12477701, ECO:0000269|PubMed:8162049, ECO:0000269|PubMed:9099841, ECO:0000269|PubMed:9361298, ECO:0000269|PubMed:9633821}.		cell death (GO:0008219)|cell-cell signaling (GO:0007267)|gap junction assembly (GO:0016264)|membrane organization (GO:0061024)|nervous system development (GO:0007399)|protein oligomerization (GO:0051259)|purine ribonucleotide transport (GO:0015868)|transport (GO:0006810)	connexon complex (GO:0005922)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	gap junction channel activity (GO:0005243)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(1)	10	Renal(35;0.156)					CTGCAACAGCGTTTGCTATGA	0.557																																																0			GRCh37	CM940832	GJB1	M	rs116840818						107	74	85					X																	70443744		2203	4300	6503	SO:0001583	missense	2705			X04325	CCDS14408.1	Xq13.1	2014-09-17	2007-01-16		ENSG00000169562	ENSG00000169562		"Ion channels / Gap junction proteins (connexins)"	4283	protein-coding gene	gene with protein product	"Charcot-Marie-Tooth neuropathy, X-linked", "connexin 32"	304040	"gap junction protein, beta 1, 32kD (connexin 32, Charcot-Marie-Tooth neuropathy, X-linked)", "gap junction protein, beta 1, 32kDa (connexin 32, Charcot-Marie-Tooth neuropathy, X-linked)", "gap junction protein, beta 1, 32kDa (connexin 32)"	CMTX1, CMTX		1319395	Standard	NM_000166		Approved	CX32	uc004dzf.3	P08034	OTTHUMG00000021797	ENST00000374022.3:c.187G>A	X.37:g.70443744G>A	ENSP00000363134:p.Val63Ile		B2R8R2|D3DVV2|Q5U0S4	Missense_Mutation	SNP	ENST00000374022.3	37	CCDS14408.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.529886	0.27387	.	.	ENSG00000169562	ENST00000374029;ENST00000374022;ENST00000447581;ENST00000361726	D;D;D;D	0.99405	-5.84;-5.84;-5.84;-5.84	4.56	3.68	0.42216	Connexin, conserved site (1);Connexin, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.99450	0.9805	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98789	1.0735	10	0.87932	D	0	.	13.3254	0.60457	0.0:0.0:0.841:0.159	.	63	P08034	CXB1_HUMAN	I	63	ENSP00000363141:V63I;ENSP00000363134:V63I;ENSP00000407223:V63I;ENSP00000354900:V63I	ENSP00000354900:V63I	V	+	1	0	GJB1	70360469	1.000000	0.71417	0.040000	0.18447	0.004000	0.04260	9.654000	0.98509	0.925000	0.37094	-0.369000	0.07265	GTT		0.557	GJB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057133.1	NM_000166		A	70443744	G	A	70443744	3	1	734	1	0	0	0	0	1	0	0	0	6409	1145	40	1	189	1	GJB1	23	70443744	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	363026	70443744	84826816	1101	42520											
NHSL2	340527	hgsc.bcm.edu;mdanderson.org	37	X	71360545	71360545	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:71360545C>T	ENST00000373677.1	+	2	3311	c.2049C>T	c.(2047-2049)ggC>ggT	p.G683G	NHSL2_ENST00000535692.1_Silent_p.G683G|NHSL2_ENST00000510661.1_Silent_p.G818G|NHSL2_ENST00000540800.1_Silent_p.G1049G			Q5HYW2	NHSL2_HUMAN	NHS-like 2	683										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					CCGCCACCGGCGATGACCTGC	0.557																																																0													54	49	51					X																	71360545		2203	4300	6503	SO:0001819	synonymous_variant	340527					Xq13.1	2009-02-18			ENSG00000204131	ENSG00000204131			33737	protein-coding gene	gene with protein product							Standard	NM_001013627		Approved		uc011mqa.2	Q5HYW2	OTTHUMG00000021807	ENST00000373677.1:c.2049C>T	X.37:g.71360545C>T			B2RN94	Silent	SNP	ENST00000373677.1	37																																																																																					0.557	NHSL2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057170.1	NM_001013627		T	71360545	C	T	71360545	2	4	734	1	0	0	0	0	0	0	0	1	10414	755	27	1		1	NHSL2	23	71360545	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	916801	71360545	83910015	1102	42521											
ERCC6L	54821	broad.mit.edu	37	X	71425000	71425000	+	Missense_Mutation	SNP	C	C	T	rs140225715	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:71425000C>T	ENST00000334463.3	-	2	3752	c.3617G>A	c.(3616-3618)cGt>cAt	p.R1206H	ERCC6L_ENST00000373657.1_Missense_Mutation_p.R1083H|PIN4_ENST00000423432.2_Intron	NM_017669.2	NP_060139.2	Q2NKX8	ERC6L_HUMAN	excision repair cross-complementation group 6-like	1206					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					TTCTTTTCCACGCTTTACAAG	0.458													C|||	1	0.000264901	0.0008	0.0	3775	,	,		13090	0.0		0.0	False		,,,				2504	0.0															0								C	,HIS/ARG	8,3827		0,7,1,1625,570	91	78	83		,3617	2.8	0.2	X	dbSNP_134	83	0,6728		0,0,0,2428,1872	yes	intron,missense	PIN4,ERCC6L	NM_001170747.1,NM_017669.2	,29	0,7,1,4053,2442	TT,TC,T,CC,C		0.0,0.2086,0.0757	,benign	,1206/1251	71425000	8,10555	2203	4300	6503	SO:0001583	missense	54821			AK000112	CCDS35329.1	Xq13.1	2014-03-07	2014-03-07		ENSG00000186871	ENSG00000186871			20794	protein-coding gene	gene with protein product	"PLK1-interacting checkpoint helicase"	300687	"excision repair cross-complementing rodent repair deficiency, complementation group 6-like"			17218258	Standard	NM_017669		Approved	FLJ20105, PICH, RAD26L	uc004eaq.1	Q2NKX8	OTTHUMG00000021810	ENST00000334463.3:c.3617G>A	X.37:g.71425000C>T	ENSP00000334675:p.Arg1206His		Q8NCI1|Q96H93|Q9NXQ8	Missense_Mutation	SNP	ENST00000334463.3	37	CCDS35329.1	.	.	.	.	.	.	.	.	.	.	C	11.48	1.650356	0.29336	0.002086	0.0	ENSG00000186871	ENST00000373657;ENST00000334463	T;T	0.76578	-1.03;-1.03	5.49	2.8	0.32819	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	.	.	.	.	T	0.67373	0.2886	L	0.38531	1.155	0.09310	N	1	B	0.16802	0.019	B	0.10450	0.005	T	0.55667	-0.8105	9	0.48119	T	0.1	-0.5306	8.781	0.34792	0.0:0.7424:0.0:0.2576	.	1206	Q2NKX8	ERC6L_HUMAN	H	1083;1206	ENSP00000362761:R1083H;ENSP00000334675:R1206H	ENSP00000334675:R1206H	R	-	2	0	ERCC6L	71341725	0.010000	0.17322	0.226000	0.23910	0.687000	0.40016	0.450000	0.21762	0.161000	0.19458	-0.269000	0.10298	CGT		0.458	ERCC6L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057174.2	NM_017669		T	71425000	C	T	71425000	3	4	734	1	0	0	0	0	1	0	0	0	5220	536	19	1	139	1	ERCC6L	23	71425000	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	64455	71425000	83845560	1103	42522											
SLC16A2	6567	broad.mit.edu;bcgsc.ca	37	X	73744294	73744294	+	Missense_Mutation	SNP	C	C	T	rs201194222		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:73744294C>T	ENST00000587091.1	+	3	853	c.676C>T	c.(676-678)Cgc>Tgc	p.R226C	SLC16A2_ENST00000276033.5_Missense_Mutation_p.R300C	NM_006517.4	NP_006508.2	P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	226					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)	p.R300C(1)		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)	CTACTTTCAACGCCGCCTGGG	0.547																																																1	Substitution - Missense(1)	endometrium(1)						C	CYS/ARG	1,3834		0,0,1,1632,570	110	83	92		898	5.8	1	X		92	1,6727		0,1,0,2427,1872	yes	missense	SLC16A2	NM_006517.3	180	0,1,1,4059,2442	TT,TC,T,CC,C		0.0149,0.0261,0.0189	probably-damaging	300/614	73744294	2,10561	2203	4300	6503	SO:0001583	missense	6567				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.676C>T	X.37:g.73744294C>T	ENSP00000465734:p.Arg226Cys		Q7Z797	Missense_Mutation	SNP	ENST00000587091.1	37	CCDS14426.2	.	.	.	.	.	.	.	.	.	.	C	19.77	3.889751	0.72524	2.61E-4	1.49E-4	ENSG00000147100	ENST00000276033	T	0.58797	0.31	5.75	5.75	0.90469	Major facilitator superfamily domain, general substrate transporter (1);	0.321801	0.35235	N	0.003345	T	0.75547	0.3864	M	0.76838	2.35	0.53688	D	0.999975	D	0.89917	1.0	D	0.75020	0.985	T	0.78727	-0.2091	10	0.87932	D	0	.	13.8526	0.63506	0.1524:0.8475:0.0:0.0	.	226	P36021	MOT8_HUMAN	C	300	ENSP00000276033:R300C	ENSP00000276033:R300C	R	+	1	0	SLC16A2	73661019	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.506000	0.53364	2.420000	0.82092	0.597000	0.82753	CGC		0.547	SLC16A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057266.3			T	73744294	C	T	73744294	3	4	734	1	0	0	0	0	1	0	0	0	14414	536	19	1	908	1	SLC16A2	23	73744294	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	2319294	73744294	81526266	1104	42523											
ATRX	546	broad.mit.edu	37	X	76888847	76888847	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:76888847C>T	ENST00000373344.5	-	19	5196	c.4982G>A	c.(4981-4983)cGt>cAt	p.R1661H	ATRX_ENST00000395603.3_Missense_Mutation_p.R1623H|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1661	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						CTCCTGAGGACGTTTCACAGT	0.363			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																																Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)											209	202	204					X																	76888847		2203	4296	6499	SO:0001583	missense	546			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.4982G>A	X.37:g.76888847C>T	ENSP00000362441:p.Arg1661His		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	C	16.26	3.073045	0.55646	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.93763	-3.28;-3.28	5.83	5.83	0.93111	DEAD-like helicase (2);SNF2-related (1);	0.066342	0.56097	D	0.000024	D	0.93822	0.8024	L	0.59967	1.855	0.80722	D	1	P;P	0.45176	0.784;0.852	P;P	0.46825	0.528;0.52	D	0.94045	0.7313	10	0.62326	D	0.03	-6.8896	19.0151	0.92890	0.0:1.0:0.0:0.0	.	1623;1661	P46100-4;P46100	.;ATRX_HUMAN	H	1661;1623	ENSP00000362441:R1661H;ENSP00000378967:R1623H	ENSP00000362441:R1661H	R	-	2	0	ATRX	76775503	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	5.662000	0.68032	2.440000	0.82611	0.594000	0.82650	CGT		0.363	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		T	76888847	C	T	76888847	3	4	734	1	0	0	0	0	1	0	0	0	1208	536	19	1	2564	1	ATRX	23	76888847	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	3144553	76888847	78381713	1105	42524											
HDX	139324	broad.mit.edu	37	X	83599463	83599463	+	Silent	SNP	A	A	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:83599463A>C	ENST00000297977.5	-	6	1566	c.1455T>G	c.(1453-1455)acT>acG	p.T485T	HDX_ENST00000373177.2_Silent_p.T485T|HDX_ENST00000506585.2_Silent_p.T427T	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	485						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						TCCCAATCCAAGTCTTTATAA	0.373																																					Pancreas(53;231 1169 36156 43751 51139)											0													39	41	40					X																	83599463		2201	4292	6493	SO:0001819	synonymous_variant	139324			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.1455T>G	X.37:g.83599463A>C			A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Silent	SNP	ENST00000297977.5	37	CCDS35342.1																																																																																				0.373	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057379.2	NM_144657		C	83599463	A	C	83599463	2	2	734	1	0	0	0	0	0	0	0	1	7028	59	3	5		5	HDX	23	83599463	Silent	SNP	A	TCGA-KN-8428-01A-11D-2310-10	6710616	83599463	71671097	1106	42525											
FAM199X	139231	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	X	103431192	103431192	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:103431192C>T	ENST00000493442.1	+	4	785	c.619C>T	c.(619-621)Cgg>Tgg	p.R207W	FAM199X_ENST00000299906.5_3'UTR	NM_207318.3	NP_997201.1	Q6PEV8	F199X_HUMAN	family with sequence similarity 199, X-linked	207										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						GATGGGTCTTCGGGAGCAACT	0.358																																																0													132	122	126					X																	103431192		2203	4300	6503	SO:0001583	missense	139231			BC016683	CCDS35364.1	Xq22	2010-02-11	2010-02-11	2010-02-11	ENSG00000123575	ENSG00000123575			25195	protein-coding gene	gene with protein product			"chromosome X open reading frame 39"	CXorf39			Standard	NM_207318		Approved		uc004elw.3	Q6PEV8	OTTHUMG00000022126	ENST00000493442.1:c.619C>T	X.37:g.103431192C>T	ENSP00000417581:p.Arg207Trp		Q8WVP6|Q96AV3	Missense_Mutation	SNP	ENST00000493442.1	37	CCDS35364.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.043222	0.75732	.	.	ENSG00000123575	ENST00000493442	.	.	.	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.76198	0.3954	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.988	T	0.76509	-0.2933	8	.	.	.	-8.1108	16.3372	0.83068	0.0:1.0:0.0:0.0	.	207;207	Q6PEV8-2;Q6PEV8	.;F199X_HUMAN	W	207	.	.	R	+	1	2	FAM199X	103317848	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.818000	0.62657	2.141000	0.66446	0.600000	0.82982	CGG		0.358	FAM199X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057764.1	NM_207318		T	103431192	C	T	103431192	3	4	734	1	0	0	0	0	1	0	0	0	5532	875	31	1	633	1	FAM199X	23	103431192	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	19831729	103431192	51839368	1107	42526											
TEX13A	56157	broad.mit.edu	37	X	104463685	104463685	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:104463685G>A	ENST00000413579.1	-	5	1302	c.1191C>T	c.(1189-1191)ttC>ttT	p.F397F	IL1RAPL2_ENST00000344799.4_Intron|IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372575.1_3'UTR|TEX13A_ENST00000372578.3_3'UTR			Q9BXU3	TX13A_HUMAN	testis expressed 13A	397							zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						TCCCACAGTCGAAGCAAGTAT	0.478																																																0													173	163	166					X																	104463685		2072	4192	6264	SO:0001819	synonymous_variant	56157			AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"testis expressed sequence 13A"			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.1191C>T	X.37:g.104463685G>A			B1B1G8|Q32NB6	Silent	SNP	ENST00000413579.1	37																																																																																					0.478	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_031274		A	104463685	G	A	104463685	2	1	734	1	0	0	0	0	0	0	0	1	15781	1059	37	1		1	TEX13A	23	104463685	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1032493	104463685	50806875	1108	42527											
TBC1D8B	54885	broad.mit.edu;mdanderson.org;bcgsc.ca	37	X	106070529	106070529	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:106070529G>A	ENST00000357242.5	+	7	1339	c.1165G>A	c.(1165-1167)Gga>Aga	p.G389R	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.G389R|TBC1D8B_ENST00000310452.2_Missense_Mutation_p.G389R|TBC1D8B_ENST00000481617.2_Missense_Mutation_p.G389R	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	389							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						GCTCAGATGCGGAGCAGCTTC	0.373																																																0													89	88	89					X																	106070529		2203	4299	6502	SO:0001583	missense	54885			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.1165G>A	X.37:g.106070529G>A	ENSP00000349781:p.Gly389Arg		B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Missense_Mutation	SNP	ENST00000357242.5	37	CCDS14522.1	.	.	.	.	.	.	.	.	.	.	g	7.605	0.673622	0.14776	.	.	ENSG00000133138	ENST00000357242;ENST00000310452;ENST00000481617;ENST00000276175	T;T;T;T	0.22539	3.18;2.57;1.95;3.17	5.36	4.48	0.54585	.	0.188414	0.46145	N	0.000304	T	0.10809	0.0264	N	0.17474	0.49	0.30827	N	0.737095	B;B;B	0.14012	0.005;0.001;0.009	B;B;B	0.10450	0.003;0.001;0.005	T	0.22347	-1.0219	10	0.14656	T	0.56	-1.9774	6.6205	0.22800	0.1004:0.1854:0.7142:0.0	.	389;389;389	Q0IIM8;B9A6K6;D6RFZ2	TBC8B_HUMAN;.;.	R	389	ENSP00000349781:G389R;ENSP00000310675:G389R;ENSP00000421375:G389R;ENSP00000276175:G389R	ENSP00000276175:G389R	G	+	1	0	TBC1D8B	105957185	0.986000	0.35501	0.107000	0.21349	0.337000	0.28794	1.727000	0.38095	0.990000	0.38787	0.502000	0.49764	GGA		0.373	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057807.2	NM_017752		A	106070529	G	A	106070529	3	1	734	1	0	0	0	0	1	0	0	0	15631	1117	39	1	1191	1	TBC1D8B	23	106070529	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1606844	106070529	49200031	1109	42528											
LRCH2	57631	hgsc.bcm.edu	37	X	114357360	114357360	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:114357360C>T	ENST00000317135.8	-	19	2093	c.2063G>A	c.(2062-2064)cGt>cAt	p.R688H	LRCH2_ENST00000538422.1_Missense_Mutation_p.R671H	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	688	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.									breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						AGCAACAGAACGTGGCCTTAT	0.368																																																0													108	97	101					X																	114357360		1959	4150	6109	SO:0001583	missense	57631			AB040928	CCDS48155.1, CCDS59175.1	Xq24	2008-02-05			ENSG00000130224	ENSG00000130224			29292	protein-coding gene	gene with protein product						10819331	Standard	NM_020871		Approved	KIAA1495	uc010nqe.3	Q5VUJ6	OTTHUMG00000022233	ENST00000317135.8:c.2063G>A	X.37:g.114357360C>T	ENSP00000325091:p.Arg688His		F5H2T1|Q08AD5|Q9HA88|Q9P233	Missense_Mutation	SNP	ENST00000317135.8	37	CCDS48155.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.463448	0.84425	.	.	ENSG00000130224	ENST00000317135;ENST00000536655;ENST00000538422	D;D	0.95069	-3.6;-3.6	5.39	5.39	0.77823	Calponin homology domain (5);	0.117372	0.64402	D	0.000015	D	0.97294	0.9115	M	0.83692	2.655	0.80722	D	1	D;D	0.89917	1.0;0.971	D;P	0.87578	0.998;0.8	D	0.97619	1.0134	10	0.59425	D	0.04	-7.9127	16.6315	0.85035	0.0:1.0:0.0:0.0	.	688;671	Q5VUJ6;F5H2T1	LRCH2_HUMAN;.	H	688;167;671	ENSP00000325091:R688H;ENSP00000439366:R671H	ENSP00000325091:R688H	R	-	2	0	LRCH2	114263616	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.320000	0.79064	2.499000	0.84300	0.422000	0.28245	CGT		0.368	LRCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057971.2	NM_020871		T	114357360	C	T	114357360	3	4	734	1	0	0	0	0	1	0	0	0	8935	536	19	1	246	1	LRCH2	23	114357360	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	8286831	114357360	40913200	1110	42529											
IL13RA1	3597	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	X	117907851	117907851	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:117907851G>A	ENST00000371666.3	+	9	1086	c.1019G>A	c.(1018-1020)cGc>cAc	p.R340H	IL13RA1_ENST00000371637.3_Missense_Mutation_p.R139H	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1	340					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						GGTAAGAAGCGCAATTCCACA	0.393																																																0													268	234	246					X																	117907851		2203	4300	6503	SO:0001583	missense	3597			U62858	CCDS14573.1	Xq24	2008-02-05			ENSG00000131724	ENSG00000131724		"Interleukins and interleukin receptors", "CD molecules"	5974	protein-coding gene	gene with protein product	"IL13 receptor alpha-1 chain", "CD213a1 antigen"	300119				8910586, 9013879	Standard	NM_001560		Approved	IL-13Ra, NR4, CD213a1	uc004eqs.3	P78552	OTTHUMG00000022258	ENST00000371666.3:c.1019G>A	X.37:g.117907851G>A	ENSP00000360730:p.Arg340His		O95646|Q5JSL4|Q99656|Q9UDY5	Missense_Mutation	SNP	ENST00000371666.3	37	CCDS14573.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.198911	0.38806	.	.	ENSG00000131724	ENST00000371666;ENST00000371637	D	0.90620	-2.7	5.54	0.181	0.15073	.	1.672200	0.03378	N	0.199998	T	0.79575	0.4469	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.66622	-0.5877	10	0.38643	T	0.18	0.6536	3.5262	0.07760	0.39:0.3911:0.1338:0.0851	.	340;340	Q5JSL4;P78552	.;I13R1_HUMAN	H	340;139	ENSP00000360730:R340H	ENSP00000360700:R139H	R	+	2	0	IL13RA1	117791879	0.000000	0.05858	0.001000	0.08648	0.130000	0.20726	0.181000	0.16880	-0.027000	0.13873	-0.377000	0.06932	CGC		0.393	IL13RA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058009.1	NM_001560		A	117907851	G	A	117907851	3	1	734	1	0	0	0	0	1	0	0	0	7631	1087	38	1	1053	1	IL13RA1	23	117907851	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	3550491	117907851	37362709	1111	42530											
DCAF12L2	340578	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	X	125299514	125299514	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:125299514G>A	ENST00000360028.2	-	1	420	c.394C>T	c.(394-396)Cgc>Tgc	p.R132C	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.R132C			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	132										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						AGGGGGATGCGCGTGATGTGG	0.637																																																0													87	80	83					X																	125299514		2203	4300	6503	SO:0001583	missense	340578			AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"WD repeat domain containing"	32950	protein-coding gene	gene with protein product			"WD repeat domain 40C"	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.394C>T	X.37:g.125299514G>A	ENSP00000353128:p.Arg132Cys		B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	g	9.379	1.072568	0.20147	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.38401	1.14;1.14	3.89	2.03	0.26663	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.	.	.	.	T	0.42921	0.1224	M	0.67953	2.075	0.09310	N	1	D	0.67145	0.996	P	0.50791	0.65	T	0.23511	-1.0186	9	0.49607	T	0.09	.	7.8811	0.29623	0.0:0.0:0.5518:0.4482	.	132	Q5VW00	DC122_HUMAN	C	132	ENSP00000441489:R132C;ENSP00000353128:R132C	ENSP00000353128:R132C	R	-	1	0	DCAF12L2	125127195	1.000000	0.71417	0.000000	0.03702	0.001000	0.01503	3.290000	0.51755	0.396000	0.25283	-0.337000	0.08149	CGC		0.637	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		A	125299514	G	A	125299514	3	1	734	1	0	0	0	0	1	0	0	0	4267	1087	38	1	1001	1	DCAF12L2	23	125299514	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	7391663	125299514	29971046	1112	42531											
BCORL1	63035	mdanderson.org;bcgsc.ca	37	X	129190044	129190044	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:129190044T>C	ENST00000218147.7	+	13	5266	c.5069T>C	c.(5068-5070)gTg>gCg	p.V1690A	BCORL1_ENST00000303743.5_Missense_Mutation_p.V1764A|BCORL1_ENST00000359304.2_Missense_Mutation_p.V1560A|BCORL1_ENST00000540052.1_Missense_Mutation_p.V1690A			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1690					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						GTGGAGCTGGTGCGGTACGAG	0.607																																																0													40	39	40					X																	129190044		2203	4300	6503	SO:0001583	missense	63035			AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"Ankyrin repeat domain containing"	25657	protein-coding gene	gene with protein product		300688	"chromosome X open reading frame 10", "BCL6 co-repressor-like 1"	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.5069T>C	X.37:g.129190044T>C	ENSP00000218147:p.Val1690Ala		B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	t	20.8	4.048561	0.75846	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822	T;T;T;T;T	0.55413	0.54;0.52;0.56;0.54;0.55	4.85	4.85	0.62838	.	0.000000	0.31507	N	0.007529	T	0.65123	0.2661	M	0.65975	2.015	0.50313	D	0.999861	D;D	0.63880	0.971;0.993	P;P	0.56960	0.697;0.81	T	0.70096	-0.4966	10	0.87932	D	0	-11.4851	13.6255	0.62161	0.0:0.0:0.0:1.0	.	1764;1690	Q5H9F3-3;Q5H9F3	.;BCORL_HUMAN	A	1690;1764;1560;1690;1364	ENSP00000218147:V1690A;ENSP00000307541:V1764A;ENSP00000352253:V1560A;ENSP00000437775:V1690A;ENSP00000399483:V1364A	ENSP00000218147:V1690A	V	+	2	0	BCORL1	129017725	1.000000	0.71417	0.997000	0.53966	0.875000	0.50365	7.163000	0.77524	1.790000	0.52503	0.414000	0.27820	GTG		0.607	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		C	129190044	T	C	129190044	3	2	734	1	0	0	0	0	1	0	0	0	1387	1696	59	3	5341	3	BCORL1	23	129190044	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	3890530	129190044	26080516	1113	42532											
ZNF280C	55609	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	X	129363022	129363022	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:129363022T>C	ENST00000370978.4	-	10	1229	c.1076A>G	c.(1075-1077)tAc>tGc	p.Y359C		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	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)			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						ATATTGCCGGTAACAGTGCTG	0.438																																																0													382	281	315					X																	129363022		2203	4300	6503	SO:0001583	missense	55609			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.1076A>G	X.37:g.129363022T>C	ENSP00000360017:p.Tyr359Cys		A8K2V8|Q9NXR3	Missense_Mutation	SNP	ENST00000370978.4	37	CCDS14622.1	.	.	.	.	.	.	.	.	.	.	t	16.18	3.051089	0.55218	.	.	ENSG00000056277	ENST00000066465;ENST00000370978;ENST00000447817	T;T	0.05855	4.24;3.38	4.12	4.12	0.48240	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	.	.	.	.	T	0.17238	0.0414	L	0.50333	1.59	0.33810	D	0.627693	D;D	0.89917	1.0;1.0	D;D	0.79108	0.982;0.992	T	0.10706	-1.0618	9	0.48119	T	0.1	.	10.3849	0.44134	0.0:0.0:0.0:1.0	.	359;359	Q9UJJ2;Q8ND82	.;Z280C_HUMAN	C	359	ENSP00000360017:Y359C;ENSP00000408521:Y359C	ENSP00000066465:Y359C	Y	-	2	0	ZNF280C	129190703	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	2.917000	0.48821	1.647000	0.50633	0.422000	0.28245	TAC		0.438	ZNF280C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058251.1	NM_017666		C	129363022	T	C	129363022	3	2	734	1	0	0	0	0	1	0	0	0	17821	1638	57	3	1177	3	ZNF280C	23	129363022	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	172978	129363022	25907538	1114	42533											
ENOX2	10495	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	X	129804011	129804011	+	Missense_Mutation	SNP	G	G	A	rs143816261		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:129804011G>A	ENST00000370927.1	-	5	730	c.709C>T	c.(709-711)Cgt>Tgt	p.R237C	ENOX2_ENST00000394363.1_Missense_Mutation_p.R208C|ENOX2_ENST00000338144.3_Missense_Mutation_p.R237C|ENOX2_ENST00000370935.1_Missense_Mutation_p.R208C			Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	237					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						GATGGTGGACGCAATCTTTCT	0.463													G|||	5	0.0013245	0.0	0.0	3775	,	,		15898	0.005		0.0	False		,,,				2504	0.0				Ovarian(101;828 1506 2951 9500 35258)											0													229	173	192					X																	129804011		2203	4300	6503	SO:0001583	missense	10495			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.709C>T	X.37:g.129804011G>A	ENSP00000359965:p.Arg237Cys		A8K197|A8K1C2|Q5VTJ1|Q5VTJ2|Q8WUX0|Q9NTP6|Q9UH82	Missense_Mutation	SNP	ENST00000370927.1	37	CCDS14626.1	5	0.0030138637733574444	0	0.0	0	0.0	3	0.00528169014084507	0	0.0	G	21.1	4.093527	0.76756	.	.	ENSG00000165675	ENST00000538435;ENST00000370935;ENST00000338144;ENST00000394363;ENST00000350369;ENST00000370927;ENST00000432489	.	.	.	5.31	5.31	0.75309	.	0.063433	0.64402	D	0.000004	T	0.68550	0.3013	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.66497	0.944;0.944	T	0.73962	-0.3817	8	.	.	.	-5.4965	10.2292	0.43245	0.0:0.0:0.803:0.197	.	237;265	Q16206;A4QPE1	ENOX2_HUMAN;.	C	208;208;237;208;265;237;208	.	.	R	-	1	0	ENOX2	129631692	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.896000	0.63222	2.463000	0.83235	0.600000	0.82982	CGT		0.463	ENOX2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058277.1	NM_182314		A	129804011	G	A	129804011	3	1	734	1	0	0	0	0	1	0	0	0	5129	1087	38	1	1159	1	ENOX2	23	129804011	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	440989	129804011	25466549	1115	42534											
ATP11C	286410	broad.mit.edu;mdanderson.org	37	X	138884415	138884415	+	Silent	SNP	C	C	T	rs376810884		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:138884415C>T	ENST00000327569.3	-	7	746	c.648G>A	c.(646-648)caG>caA	p.Q216Q	ATP11C_ENST00000370557.1_Silent_p.Q213Q|ATP11C_ENST00000370543.1_Silent_p.Q216Q|ATP11C_ENST00000359686.2_Silent_p.Q216Q|ATP11C_ENST00000361648.2_Silent_p.Q216Q	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	216					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)					CAGGTTGAGGCTGTTCACATT	0.423																																																0								C	,	0,3835		0,0,1632,571	286	228	247		648,648	3.9	1	X		247	1,6727		0,1,2427,1872	no	coding-synonymous,coding-synonymous	ATP11C	NM_001010986.2,NM_173694.4	,	0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095	,	216/1120,216/1133	138884415	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	286410			AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"ATPases / P-type"	13554	protein-coding gene	gene with protein product		300516	"ATPase, Class VI, type 11C"			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.648G>A	X.37:g.138884415C>T			Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Silent	SNP	ENST00000327569.3	37	CCDS14668.1																																																																																				0.423	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694		T	138884415	C	T	138884415	2	4	734	1	0	0	0	0	0	0	0	1	1121	796	28	2		2	ATP11C	23	138884415	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	9080404	138884415	16386145	1116	42535											
FMR1	2332	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	X	147011711	147011711	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:147011711G>A	ENST00000370475.4	+	7	706	c.578G>A	c.(577-579)cGc>cAc	p.R193H	FMR1_ENST00000440235.2_5'Flank|FMR1_ENST00000439526.2_Missense_Mutation_p.R193H|FMR1_ENST00000370471.3_Missense_Mutation_p.R193H|FMR1_ENST00000370477.1_Missense_Mutation_p.R193H|FMR1_ENST00000334557.6_Missense_Mutation_p.R193H|FMR1_ENST00000370470.1_Missense_Mutation_p.R193H|FMR1_ENST00000218200.8_Missense_Mutation_p.R193H	NM_002024.5	NP_002015.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	193					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)	p.R193H(1)		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)					CGGAGTCTGCGCACTAAGTTG	0.408									Fragile X syndrome																																							1	Substitution - Missense(1)	NS(1)											141	117	125					X																	147011711		2203	4300	6503	SO:0001583	missense	2332	Familial Cancer Database	Martin-Bell syndrome, FRAXA syndrome	X69962	CCDS14682.1, CCDS55518.1, CCDS55519.1, CCDS76039.1	Xq27.3	2014-09-17			ENSG00000102081	ENSG00000102081			3775	protein-coding gene	gene with protein product		309550	"premature ovarian failure 1"	POF1, POF		1572655	Standard	NM_002024		Approved	FMRP, FRAXA, MGC87458	uc010nst.3	Q06787	OTTHUMG00000022606	ENST00000370475.4:c.578G>A	X.37:g.147011711G>A	ENSP00000359506:p.Arg193His		A6NNH4|D3DWT0|D3DWT1|D3DWT2|G8JL90|Q16578|Q5PQZ6|Q99054	Missense_Mutation	SNP	ENST00000370475.4	37	CCDS14682.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.631865	0.87660	.	.	ENSG00000102081	ENST00000218200;ENST00000370471;ENST00000370477;ENST00000370475;ENST00000334557;ENST00000439526;ENST00000370470	T;T;T;T;T;T;T	0.61627	0.86;0.09;0.9;0.88;1.18;0.9;0.92	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.78935	0.4362	M	0.85542	2.76	0.80722	D	1	D;D;D;D;D	0.89917	0.998;0.998;1.0;1.0;1.0	P;D;D;D;D	0.85130	0.858;0.924;0.994;0.997;0.997	T	0.83127	-0.0115	10	0.87932	D	0	-20.2599	16.6447	0.85173	0.0:0.0:1.0:0.0	.	193;193;109;193;193	Q8IXW7;Q06787;Q59GC1;Q06787-8;G3V0J0	.;FMR1_HUMAN;.;.;.	H	193	ENSP00000218200:R193H;ENSP00000359502:R193H;ENSP00000359508:R193H;ENSP00000359506:R193H;ENSP00000355115:R193H;ENSP00000395923:R193H;ENSP00000359501:R193H	ENSP00000218200:R193H	R	+	2	0	FMR1	146819403	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.679000	0.98649	2.221000	0.72209	0.600000	0.82982	CGC		0.408	FMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058655.1	NM_002024		A	147011711	G	A	147011711	3	1	734	1	0	0	0	0	1	0	0	0	5962	1087	38	1	604	1	FMR1	23	147011711	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	8127296	147011711	8258849	1117	42536											
DUSP9	1852	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	X	152915503	152915503	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:152915503G>A	ENST00000342782.3	+	4	1163	c.898G>A	c.(898-900)Gtc>Atc	p.V300I	DUSP9_ENST00000370167.4_Missense_Mutation_p.V300I			Q99956	DUS9_HUMAN	dual specificity phosphatase 9	300	Tyrosine-protein phosphatase.				inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TTCTGTCACCGTCACTGTGGC	0.582																																																0													247	211	223					X																	152915503		2203	4300	6503	SO:0001583	missense	1852			Y08302	CCDS14724.1	Xq28	2011-06-09			ENSG00000130829	ENSG00000130829		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3076	protein-coding gene	gene with protein product	"map kinase phosphatase 4"	300134				9030581, 9286695	Standard	NM_001395		Approved	MKP-4, MKP4	uc004fhx.4	Q99956	OTTHUMG00000024211	ENST00000342782.3:c.898G>A	X.37:g.152915503G>A	ENSP00000345853:p.Val300Ile		D3DWU5	Missense_Mutation	SNP	ENST00000342782.3	37	CCDS14724.1	.	.	.	.	.	.	.	.	.	.	g	21.6	4.173822	0.78452	.	.	ENSG00000130829	ENST00000370167;ENST00000342782	D;D	0.86030	-2.06;-2.06	4.94	4.05	0.47172	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.233047	0.28077	N	0.016699	T	0.79644	0.4481	N	0.11651	0.15	0.52099	D	0.999946	P	0.43578	0.811	P	0.53006	0.715	T	0.75639	-0.3248	10	0.21014	T	0.42	.	13.1079	0.59257	0.0:0.1585:0.8415:0.0	.	300	Q99956	DUS9_HUMAN	I	300	ENSP00000359186:V300I;ENSP00000345853:V300I	ENSP00000345853:V300I	V	+	1	0	DUSP9	152568697	1.000000	0.71417	0.800000	0.32199	0.866000	0.49608	7.582000	0.82546	1.036000	0.39998	0.529000	0.55759	GTC		0.582	DUSP9-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061022.3	NM_001395		A	152915503	G	A	152915503	3	1	734	1	0	0	0	0	1	0	0	0	4834	1145	40	1	908	1	DUSP9	23	152915503	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	5903792	152915503	2355057	1118	42537											
PLXNB3	5365	broad.mit.edu	37	X	153037418	153037418	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:153037418G>A	ENST00000361971.5	+	15	2731	c.2617G>A	c.(2617-2619)Gtg>Atg	p.V873M	PLXNB3_ENST00000538776.1_Missense_Mutation_p.V526M|PLXNB3_ENST00000538966.1_Missense_Mutation_p.V896M|PLXNB3_ENST00000538282.1_Missense_Mutation_p.V483M|PLXNB3_ENST00000538543.1_3'UTR	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	873	IPT/TIG 1.				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)					CGCCGTGAGCGTGGCCAGCCG	0.697																																																0													39	35	36					X																	153037418		2195	4292	6487	SO:0001583	missense	5365			AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"Plexins"	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.2617G>A	X.37:g.153037418G>A	ENSP00000355378:p.Val873Met		B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	ENST00000361971.5	37	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.416537	0.62511	.	.	ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776;ENST00000538282	T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27	4.96	4.96	0.65561	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.87281	0.6138	M	0.76433	2.335	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.984;0.997;0.999	D	0.88962	0.3394	10	0.87932	D	0	.	14.6355	0.68686	0.0:0.0:1.0:0.0	.	526;555;896;873	B7Z3H9;B7Z9A5;F5H773;Q9ULL4	.;.;.;PLXB3_HUMAN	M	896;873;526;483	ENSP00000442736:V896M;ENSP00000355378:V873M;ENSP00000445569:V526M;ENSP00000441919:V483M	ENSP00000355378:V873M	V	+	1	0	PLXNB3	152690612	1.000000	0.71417	0.892000	0.35008	0.041000	0.13682	7.691000	0.84191	2.035000	0.60131	0.513000	0.50165	GTG		0.697	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			A	153037418	G	A	153037418	3	1	734	1	0	0	0	0	1	0	0	0	12127	1145	40	1	2789	1	PLXNB3	23	153037418	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	121915	153037418	2233142	1119	42538											
MECP2	4204	broad.mit.edu;mdanderson.org;bcgsc.ca	37	X	153296438	153296438	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:153296438C>T	ENST00000303391.6	-	4	1090	c.841G>A	c.(841-843)Gcc>Acc	p.A281T	MECP2_ENST00000460227.1_5'Flank|MECP2_ENST00000453960.2_Missense_Mutation_p.A293T	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2	281					adult locomotory behavior (GO:0008344)|behavioral fear response (GO:0001662)|cardiolipin metabolic process (GO:0032048)|catecholamine secretion (GO:0050432)|cerebellum development (GO:0021549)|chromatin silencing (GO:0006342)|dendrite development (GO:0016358)|glucocorticoid metabolic process (GO:0008211)|glutamine metabolic process (GO:0006541)|histone acetylation (GO:0016573)|histone methylation (GO:0016571)|inositol metabolic process (GO:0006020)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone methylation (GO:0031061)|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)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron maturation (GO:0042551)|pathogenesis (GO:0009405)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|proprioception (GO:0019230)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|startle response (GO:0001964)|synapse assembly (GO:0007416)|transcription, DNA-templated (GO:0006351)|ventricular system development (GO:0021591)|visual learning (GO:0008542)	cytosol (GO:0005829)|extracellular space (GO:0005615)|heterochromatin (GO:0000792)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|siRNA binding (GO:0035197)|transcription corepressor activity (GO:0003714)			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	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)					TTGGCCTCGGCGGCAGCGGCT	0.612																																																0													48	49	48					X																	153296438		2195	4279	6474	SO:0001583	missense	4204			AF158180	CCDS14741.1, CCDS48193.1	Xq28	2014-09-17	2014-06-18		ENSG00000169057	ENSG00000169057			6990	protein-coding gene	gene with protein product		300005	"mental retardation, X-linked 16", "mental retardation, X-linked 79", "Rett syndrome", "methyl CpG binding protein 2 (Rett syndrome)"	RTT, MRX16, MRX79		1606614, 10508514	Standard	NM_004992		Approved		uc004fjw.2	P51608	OTTHUMG00000024229	ENST00000303391.6:c.841G>A	X.37:g.153296438C>T	ENSP00000301948:p.Ala281Thr		O15233|Q6QHH9|Q7Z384	Missense_Mutation	SNP	ENST00000303391.6	37	CCDS14741.1	.	.	.	.	.	.	.	.	.	.	C	11.29	1.595254	0.28445	.	.	ENSG00000169057	ENST00000303391;ENST00000545451;ENST00000453960	D;D	0.91945	-2.94;-2.93	5.06	5.06	0.68205	.	0.273357	0.41001	D	0.000965	T	0.81683	0.4874	N	0.19112	0.55	0.80722	D	1	P;P	0.49253	0.82;0.921	B;B	0.32762	0.152;0.129	T	0.82571	-0.0391	10	0.08837	T	0.75	-13.0911	16.204	0.82108	0.0:1.0:0.0:0.0	.	293;281	P51608-2;P51608	.;MECP2_HUMAN	T	281;281;293	ENSP00000301948:A281T;ENSP00000395535:A293T	ENSP00000301948:A281T	A	-	1	0	MECP2	152949632	0.756000	0.28383	0.130000	0.21974	0.767000	0.43475	2.124000	0.42006	2.344000	0.79699	0.600000	0.82982	GCC		0.612	MECP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061144.1	NM_004992		T	153296438	C	T	153296438	3	4	734	1	0	0	0	0	1	0	0	0	9425	768	27	1	623	1	MECP2	23	153296438	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	259020	153296438	1974122	1120	42539											
F8	2157	broad.mit.edu;mdanderson.org;bcgsc.ca	37	X	154197604	154197604	+	Splice_Site	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:154197604A>G	ENST00000360256.4	-	7	1210		c.e7+1		F8_ENST00000483822.1_5'Flank	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component						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)	CCAAGATATTACCATGTTGGT	0.358																																																0													70	63	66					X																	154197604		2203	4300	6503	SO:0001630	splice_region_variant	2157			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.1009+1T>C	X.37:g.154197604A>G			Q14286|Q5HY69	Splice_Site	SNP	ENST00000360256.4	37	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	A	15.84	2.952972	0.53293	.	.	ENSG00000185010	ENST00000360256	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.1694	0.54148	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	F8	153850798	1.000000	0.71417	0.997000	0.53966	0.645000	0.38454	6.308000	0.72820	1.894000	0.54839	0.441000	0.28932	.		0.358	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4		Intron	G	154197604	A	G	154197604	5	3	734	1	0	0	0	0	0	0	1	0	5352	405	14	3	6152	3	F8	23	154197604	Splice_Site	SNP	A	TCGA-KN-8428-01A-11D-2310-10	901166	154197604	1072956	1121	42540											
AGRN	375790	broad.mit.edu	37	1	983488	983489	+	In_Frame_Ins	INS	-	-	CCA			TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr1:983488_983489insCCA	ENST00000379370.2	+	23	3898_3899	c.3848_3849insCCA	c.(3847-3852)gctgtg>gcCCAtgtg	p.1283_1284AV>AHV		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1283	Ser/Thr-rich.				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)		CCGTCCTCTGCTGTGACCCCTC	0.698																																																0																																										SO:0001652	inframe_insertion	375790			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	Exception_encountered	1.37:g.983488_983489insCCA	ENSP00000368678:p.Ala1283_Val1284insHis		Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	In_Frame_Ins	INS	ENST00000379370.2	37	CCDS30551.1																																																																																				0.698	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576		CCA	983489	-	CCA	983488	7	5	735	1	0	1	1	0	0	0	0	0	397	797	28	0	3938	0	AGRN	1	983488	In_Frame_Ins	INS	-	TCGA-KN-8429-01A-11D-2310-10		983488	248267133	1	42541	393	2									
AGRN	375790	broad.mit.edu	37	1	983491	983493	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	TGA	TGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr1:983491_983493delTGA	ENST00000379370.2	+	23	3901_3903	c.3851_3853delTGA	c.(3850-3855)gtgacc>gcc	p.1284_1285VT>A		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1284	Ser/Thr-rich.				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)		TCCTCTGCTGTGACCCCTCGGGC	0.695																																																0																																										SO:0001651	inframe_deletion	375790			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.3851_3853delTGA	1.37:g.983491_983493delTGA	ENSP00000368678:p.Val1284_Thr1285delinsAla		Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	In_Frame_Del	DEL	ENST00000379370.2	37	CCDS30551.1																																																																																				0.695	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576		-	983493	TGA	-	983491	7	5	735	1	0	1	0	1	0	0	0	0	397	1696	59	0	3941	0	AGRN	1	983491	In_Frame_Del	DEL	TGA	TCGA-KN-8429-01A-11D-2310-10	3	983491	248267130	2	42542	393	2									
NBPF1	55672	mdanderson.org	37	1	16907914	16907914	+	Splice_Site	SNP	C	C	T			TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr1:16907914C>T	ENST00000430580.2	-	15	2267		c.e15+1		NBPF1_ENST00000432949.1_5'Flank	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TTCAGTGTTACCTGGGGGCAG	0.438																																																0													255	285	274					1																	16907914		1493	2696	4189	SO:0001630	splice_region_variant	55672			AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"neuroblastoma breakpoint family"	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.1379+1G>A	1.37:g.16907914C>T			Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																					0.438	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	T	16907914	C	T	16907914	5	4	735	1	0	0	0	0	0	0	1	0	10194	521	18	2	2104	2	NBPF1	1	16907914	Splice_Site	SNP	C	TCGA-KN-8429-01A-11D-2310-10	15924423	16907914	232342707	3	42543											
RBMXL1	494115	mdanderson.org	37	1	89449237	89449237	+	Missense_Mutation	SNP	T	T	A	rs200727134		TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr1:89449237T>A	ENST00000321792.5	-	2	700	c.273A>T	c.(271-273)agA>agT	p.R91S	CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000370485.2_Intron|RBMXL1_ENST00000399794.2_Missense_Mutation_p.R91S|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000260508.4_Intron|RBMXL1_ENST00000413769.1_5'UTR	NM_019610.5	NP_062556.2	Q96E39	RMXL1_HUMAN	RNA binding motif protein, X-linked-like 1	91					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)										CATGTCTACCTCTTTCAAATG	0.522											OREG0013593	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													103	106	105					1																	89449237		2203	4300	6503	SO:0001583	missense	494115			BC012942	CCDS716.1	1p22.2	2013-02-12	2007-01-04	2007-01-04	ENSG00000213516	ENSG00000213516		"RNA binding motif (RRM) containing"	25073	protein-coding gene	gene with protein product	"kynurenine aminotransferase III"					10441733	Standard	NM_019610		Approved	KAT3	uc001dms.3	Q96E39	OTTHUMG00000010661	ENST00000321792.5:c.273A>T	1.37:g.89449237T>A	ENSP00000318415:p.Arg91Ser	1267		Missense_Mutation	SNP	ENST00000321792.5	37	CCDS716.1	.	.	.	.	.	.	.	.	.	.	T	0.418	-0.909529	0.02434	.	.	ENSG00000213516	ENST00000321792;ENST00000399794	T;T	0.74315	-0.83;-0.83	1.59	-1.88	0.07713	Nucleotide-binding, alpha-beta plait (1);	0.103071	0.64402	N	0.000004	T	0.12518	0.0304	N	0.02412	-0.56	0.24373	N	0.994823	B	0.02656	0.0	B	0.01281	0.0	T	0.33394	-0.9870	10	0.02654	T	1	-5.4219	1.5207	0.02515	0.4483:0.0:0.2296:0.322	.	91	Q96E39	RBMXL_HUMAN	S	91	ENSP00000318415:R91S;ENSP00000446099:R91S	ENSP00000318415:R91S	R	-	3	2	RBMXL1	89221825	0.996000	0.38824	0.677000	0.29947	0.326000	0.28443	0.395000	0.20850	-0.106000	0.12110	-1.038000	0.02383	AGA		0.522	RBMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029403.3	NM_019610		A	89449237	T	A	89449237	3	1	735	1	0	0	0	0	1	0	0	0	13159	1548	54	5	903	5	RBMXL1	1	89449237	Missense_Mutation	SNP	T	TCGA-KN-8429-01A-11D-2310-10	72541323	89449237	159801384	4	42544											
CLCC1	23155	broad.mit.edu	37	1	109486125	109486125	+	Missense_Mutation	SNP	A	A	C			TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr1:109486125A>C	ENST00000369971.2	-	6	803	c.674T>G	c.(673-675)tTg>tGg	p.L225W	CLCC1_ENST00000348264.2_Intron|CLCC1_ENST00000369969.2_Intron|CLCC1_ENST00000369970.3_Missense_Mutation_p.L175W|CLCC1_ENST00000415331.1_Missense_Mutation_p.L175W|CLCC1_ENST00000482889.1_5'UTR|CLCC1_ENST00000369968.2_Intron|CLCC1_ENST00000302500.4_Intron|CLCC1_ENST00000356970.2_Missense_Mutation_p.L225W|CLCC1_ENST00000369976.1_Intron|AKNAD1_ENST00000357393.4_Intron	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN	chloride channel CLIC-like 1	225						chloride channel complex (GO:0034707)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	chloride channel activity (GO:0005254)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		ATTCCATCCCAAACTGAACAG	0.368																																																0													94	105	101					1																	109486125		2203	4300	6503	SO:0001583	missense	23155			AB018304	CCDS793.1, CCDS41362.1, CCDS60214.1, CCDS60215.1	1p13.3	2008-02-05			ENSG00000121940	ENSG00000121940			29675	protein-coding gene	gene with protein product	"Mid1-related chloride channel (yeast)"					9872452, 11279057	Standard	NM_001048210		Approved	MCLC	uc001dwf.2	Q96S66	OTTHUMG00000011732	ENST00000369971.2:c.674T>G	1.37:g.109486125A>C	ENSP00000358988:p.Leu225Trp		O94861|Q8WYP8|Q8WYP9|Q9BU25	Missense_Mutation	SNP	ENST00000369971.2	37	CCDS41362.1	.	.	.	.	.	.	.	.	.	.	A	19.54	3.847298	0.71603	.	.	ENSG00000121940	ENST00000356970;ENST00000369971;ENST00000415331;ENST00000369970	T;T;T;T	0.55588	0.51;0.51;0.51;0.51	5.26	5.26	0.73747	.	0.241386	0.42420	D	0.000720	T	0.61565	0.2357	M	0.72118	2.19	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.68943	0.919;0.961	T	0.67546	-0.5643	10	0.72032	D	0.01	-0.3509	11.4695	0.50259	0.927:0.0:0.073:0.0	.	175;225	Q96S66-2;Q96S66	.;CLCC1_HUMAN	W	225;225;175;175	ENSP00000349456:L225W;ENSP00000358988:L225W;ENSP00000411591:L175W;ENSP00000358987:L175W	ENSP00000349456:L225W	L	-	2	0	CLCC1	109287648	0.996000	0.38824	0.948000	0.38648	0.811000	0.45836	3.750000	0.55157	2.114000	0.64651	0.482000	0.46254	TTG		0.368	CLCC1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032405.1	NM_015127		C	109486125	A	C	109486125	3	2	735	1	0	0	0	0	1	0	0	0	3462	131	5	5	1005	5	CLCC1	1	109486125	Missense_Mutation	SNP	A	TCGA-KN-8429-01A-11D-2310-10	20036888	109486125	139764496	5	42545											
OVGP1	5016	bcgsc.ca	37	1	111957517	111957517	+	Missense_Mutation	SNP	T	T	C	rs3767609|rs201350653|rs549398942	byFrequency	TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr1:111957517T>C	ENST00000369732.3	-	11	1661	c.1606A>G	c.(1606-1608)Agt>Ggt	p.S536G		NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	536			S -> G (in dbSNP:rs3767609).		binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)	p.T597_V604delTPVSHQSV(2)|p.T533_V540delTPVSHQSV(2)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		GACTGATGACTCACAGGGGTC	0.547													T|||	1503	0.30012	0.4092	0.2291	5008	,	,		16183	0.2044		0.2972	False		,,,				2504	0.3047															4	Deletion - In frame(4)	haematopoietic_and_lymphoid_tissue(2)|stomach(2)						T	GLY/SER	1138,3170		242,654,1258	58	69	66		1606	-4.5	0	1	dbSNP_107	66	2424,6110		368,1688,2211	yes	missense	OVGP1	NM_002557.3	56	610,2342,3469	CC,CT,TT		28.404,26.416,27.7371	benign	536/679	111957517	3562,9280	2154	4267	6421	SO:0001583	missense	5016			U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"Mucins"	8524	protein-coding gene	gene with protein product	"oviductin"	603578	"mucin 9"	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.1606A>G	1.37:g.111957517T>C	ENSP00000358747:p.Ser536Gly		A0AV19|B9EGE1|Q15841	Missense_Mutation	SNP	ENST00000369732.3	37	CCDS834.1	.	.	.	.	.	.	.	.	.	.	T	6.657	0.489649	0.12702	0.26416	0.28404	ENSG00000085465	ENST00000369732;ENST00000369728;ENST00000434331	T	0.02787	4.16	2.23	-4.46	0.03536	.	.	.	.	.	T	0.00524	0.0017	N	0.19112	0.55	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.44982	-0.9292	8	0.31617	T	0.26	0.2049	3.9657	0.09431	0.0:0.2687:0.3546:0.3767	rs3767609;rs3767609	536;600	Q12889;Q59HH5	OVGP1_HUMAN;.	G	536;600;344	ENSP00000358747:S536G	ENSP00000358743:S600G	S	-	1	0	OVGP1	111759040	0.017000	0.18338	0.000000	0.03702	0.168000	0.22595	0.634000	0.24614	-1.729000	0.01364	0.254000	0.18369	AGT		0.547	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032461.1	NM_002557		C	111957517	T	C	111957517	3	2	735	1	0	0	0	0	1	0	0	0	11327	1551	54	3	434	3	OVGP1	1	111957517	Missense_Mutation	SNP	T	TCGA-KN-8429-01A-11D-2310-10	2471392	111957517	137293104	6	42546											
CGN	57530	bcgsc.ca	37	1	151497210	151497210	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr1:151497210G>T	ENST00000271636.7	+	8	1595	c.1462G>T	c.(1462-1464)Gag>Tag	p.E488*		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	482	Glu-rich.				transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCGAGTAGAGGAGCAGCTGAG	0.572																																																0													27	28	27					1																	151497210		2203	4300	6503	SO:0001587	stop_gained	57530			AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.1462G>T	1.37:g.151497210G>T	ENSP00000271636:p.Glu488*		A6H8L3|A7MD22|Q5T386|Q9NR25	Nonsense_Mutation	SNP	ENST00000271636.7	37	CCDS999.1	.	.	.	.	.	.	.	.	.	.	G	39	7.894441	0.98548	.	.	ENSG00000143375	ENST00000271636	.	.	.	4.86	4.86	0.63082	.	0.255650	0.40222	N	0.001153	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-27.7576	15.5281	0.75928	0.0:0.0:1.0:0.0	.	.	.	.	X	488	.	ENSP00000271636:E488X	E	+	1	0	CGN	149763834	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.226000	0.78060	2.522000	0.85027	0.655000	0.94253	GAG		0.572	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034900.3	NM_020770		T	151497210	G	T	151497210	4	4	735	1	0	0	0	0	0	1	0	0	3305	1175	41	4	1488	4	CGN	1	151497210	Nonsense_Mutation	SNP	G	TCGA-KN-8429-01A-11D-2310-10	39539693	151497210	97753411	7	42547											
ATP8B2	57198	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	1	154315638	154315638	+	Silent	SNP	C	C	T			TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr1:154315638C>T	ENST00000368489.3	+	16	1602	c.1602C>T	c.(1600-1602)acC>acT	p.T534T		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	520					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	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)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCCTGGTCACCGCAGCCAGGA	0.567																																																0													72	58	63					1																	154315638		2203	4300	6503	SO:0001819	synonymous_variant	57198			AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"ATPases / P-type"	13534	protein-coding gene	gene with protein product		605867	"ATPase, class I, type 8B, member 2"			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.1602C>T	1.37:g.154315638C>T			B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Silent	SNP	ENST00000368489.3	37	CCDS1066.1																																																																																				0.567	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2	NM_020452		T	154315638	C	T	154315638	2	4	735	1	0	0	0	0	0	0	0	1	1195	639	23	1		1	ATP8B2	1	154315638	Silent	SNP	C	TCGA-KN-8429-01A-11D-2310-10	2818428	154315638	94934983	8	42548											
CD5L	922	mdanderson.org;bcgsc.ca	37	1	157805692	157805692	+	Missense_Mutation	SNP	C	C	G			TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr1:157805692C>G	ENST00000368174.4	-	3	405	c.309G>C	c.(307-309)ttG>ttC	p.L103F	CD5L_ENST00000484609.1_5'Flank	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	103	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CACACTGAGCCAATGTATCTT	0.488																																																0													213	217	216					1																	157805692		2203	4300	6503	SO:0001583	missense	922			U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"apoptosis inhibitor 6", "CD5 antigen-like (scavenger receptor cysteine rich family)"	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.309G>C	1.37:g.157805692C>G	ENSP00000357156:p.Leu103Phe		A8K7M5|Q6UX63	Missense_Mutation	SNP	ENST00000368174.4	37	CCDS1171.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.471904	0.43942	.	.	ENSG00000073754	ENST00000368174	T	0.57907	0.37	4.68	4.68	0.58851	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.000000	0.35291	N	0.003305	T	0.65491	0.2696	M	0.90759	3.145	0.09310	N	1	D	0.71674	0.998	D	0.68353	0.957	T	0.62296	-0.6884	10	0.87932	D	0	.	8.6725	0.34159	0.0:0.8993:0.0:0.1007	.	103	O43866	CD5L_HUMAN	F	103	ENSP00000357156:L103F	ENSP00000357156:L103F	L	-	3	2	CD5L	156072316	0.000000	0.05858	0.194000	0.23346	0.023000	0.10783	-1.013000	0.03645	2.419000	0.82065	0.563000	0.77884	TTG		0.488	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1	NM_005894		G	157805692	C	G	157805692	3	3	735	1	0	0	0	0	1	0	0	0	3029	593	21	4	750	4	CD5L	1	157805692	Missense_Mutation	SNP	C	TCGA-KN-8429-01A-11D-2310-10	3490054	157805692	91444929	9	42549											
IGFN1	91156	bcgsc.ca	37	1	201181673	201181673	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr1:201181673G>A	ENST00000335211.4	+	12	7782	c.7652G>A	c.(7651-7653)cGg>cAg	p.R2551Q	IGFN1_ENST00000295591.8_5'UTR|IGFN1_ENST00000451870.2_Intron	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	0						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						GGATATGAACGGGACATCTGG	0.587																																																0													25	27	27					1																	201181673		692	1591	2283	SO:0001583	missense	91156			AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.7652G>A	1.37:g.201181673G>A	ENSP00000334714:p.Arg2551Gln		F8WAI1|Q9NT72	Missense_Mutation	SNP	ENST00000335211.4	37	CCDS53455.1	.	.	.	.	.	.	.	.	.	.	g	10.75	1.439042	0.25900	.	.	ENSG00000163395	ENST00000335211	T	0.51574	0.7	3.53	-7.07	0.01563	.	.	.	.	.	T	0.20251	0.0487	N	0.08118	0	0.09310	N	0.999997	.	.	.	.	.	.	T	0.22871	-1.0204	6	.	.	.	.	7.8001	0.29170	0.326:0.0:0.5404:0.1336	.	.	.	.	Q	2551	ENSP00000334714:R2551Q	.	R	+	2	0	IGFN1	199448296	0.000000	0.05858	0.000000	0.03702	0.078000	0.17371	-3.048000	0.00629	-2.294000	0.00663	-0.778000	0.03378	CGG		0.587	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178275		A	201181673	G	A	201181673	3	1	735	1	0	0	0	0	1	0	0	0	7592	1116	39	1	7694	1	IGFN1	1	201181673	Missense_Mutation	SNP	G	TCGA-KN-8429-01A-11D-2310-10	43375981	201181673	48068948	10	42550											
TEKT4	150483	ucsc.edu	37	2	95542418	95542419	+	Missense_Mutation	DNP	TG	TG	CA	rs199648585|rs75603622	byFrequency	TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	TG	TG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr2:95542418_95542419TG>CA	ENST00000295201.4	+	6	1349_1350	c.1212_1213TG>CA	c.(1210-1215)atTGcc>atCAcc	p.A405T	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	405					cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						AGAAGGACATTGCCGCCATGAC	0.584																																																0																																										SO:0001583	missense	150483			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	Exception_encountered	2.37:g.95542418_95542419delinsCA	ENSP00000295201:p.Ala405Thr			Missense_Mutation	DNP	ENST00000295201.4	37	CCDS2005.1																																																																																				0.584	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1	NM_144705		CA	95542419	TG	CA	95542418	3	2	735	1	0	0	0	0	1	0	0	0	15760	1800	63	3	1234	3	TEKT4	2	95542418	Missense_Mutation	DNP	TG	TCGA-KN-8429-01A-11D-2310-10		95542418	147656955	11	42551											
IL1R2	7850	bcgsc.ca	37	2	102626112	102626112	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr2:102626112G>T	ENST00000332549.3	+	3	385	c.156G>T	c.(154-156)caG>caT	p.Q52H	IL1R2_ENST00000393414.2_Missense_Mutation_p.Q52H|IL1R2_ENST00000441002.1_Missense_Mutation_p.Q52H	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	52	Ig-like C2-type 1.				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						GGTGCCCCCAGGTGCCCTACT	0.597																																					Pancreas(106;189 1628 2302 5133 12295)											0													133	140	138					2																	102626112		2203	4300	6503	SO:0001583	missense	7850			X59770	CCDS2054.1, CCDS58719.1	2q12	2013-01-11			ENSG00000115590	ENSG00000115590		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5994	protein-coding gene	gene with protein product		147811		IL1RB		10191101, 1833184	Standard	NM_004633		Approved	CD121b	uc002tbm.3	P27930	OTTHUMG00000130695	ENST00000332549.3:c.156G>T	2.37:g.102626112G>T	ENSP00000330959:p.Gln52His		D3DVJ5|Q6LCE6|Q9UE68	Missense_Mutation	SNP	ENST00000332549.3	37	CCDS2054.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.342180	0.24339	.	.	ENSG00000115590	ENST00000332549;ENST00000393414;ENST00000457817;ENST00000441002	T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06	5.8	0.212	0.15240	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.844176	0.10659	N	0.648915	T	0.70211	0.3198	L	0.54323	1.7	0.09310	N	1	D	0.56521	0.976	P	0.49502	0.613	T	0.58544	-0.7618	10	0.15499	T	0.54	.	1.1662	0.01816	0.1664:0.2397:0.3437:0.2502	.	52	P27930	IL1R2_HUMAN	H	52	ENSP00000330959:Q52H;ENSP00000377066:Q52H;ENSP00000408415:Q52H;ENSP00000414611:Q52H	ENSP00000330959:Q52H	Q	+	3	2	IL1R2	101992544	0.116000	0.22171	0.348000	0.25681	0.571000	0.35966	0.556000	0.23438	0.389000	0.25086	0.561000	0.74099	CAG		0.597	IL1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253191.1	NM_004633		T	102626112	G	T	102626112	3	4	735	1	0	0	0	0	1	0	0	0	7661	991	35	4	162	4	IL1R2	2	102626112	Missense_Mutation	SNP	G	TCGA-KN-8429-01A-11D-2310-10	7083694	102626112	140573261	12	42552											
POTEF	728378	mdanderson.org	37	2	130872871	130872871	+	Silent	SNP	C	C	T	rs199770435		TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr2:130872871C>T	ENST00000409914.2	-	4	951	c.552G>A	c.(550-552)ggG>ggA	p.G184G	POTEF_ENST00000360967.5_Silent_p.G184G|POTEF_ENST00000361163.4_Silent_p.G184G|POTEF_ENST00000357462.5_Silent_p.G184G	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	184					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.G184G(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						CTTCTGAATTCCCATTGGCAG	0.423																																																2	Substitution - coding silent(2)	prostate(2)											45	53	50					2																	130872871		2105	4041	6146	SO:0001819	synonymous_variant	728378			EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33905	protein-coding gene	gene with protein product			"ANKRD26-like family C, member 1B"	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.552G>A	2.37:g.130872871C>T			A6NC34	Silent	SNP	ENST00000409914.2	37	CCDS46409.1																																																																																				0.423	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		T	130872871	C	T	130872871	2	4	735	1	0	0	0	0	0	0	0	1	12267	842	30	2		2	POTEF	2	130872871	Silent	SNP	C	TCGA-KN-8429-01A-11D-2310-10	28246759	130872871	112326502	13	42553											
PASK	23178	mdanderson.org	37	2	242080064	242080064	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr2:242080064G>T	ENST00000405260.1	-	3	999	c.301C>A	c.(301-303)Ccg>Acg	p.P101T	PASK_ENST00000539818.1_Intron|PASK_ENST00000358649.4_Missense_Mutation_p.P101T|PASK_ENST00000403638.3_Missense_Mutation_p.P101T|PASK_ENST00000234040.4_Missense_Mutation_p.P101T|PASK_ENST00000544142.1_Intron	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	101					negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|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;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CTGCCCCGCGGTTCGGACGGG	0.597																																																0													74	71	72					2																	242080064		2203	4300	6503	SO:0001583	missense	23178			U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.301C>A	2.37:g.242080064G>T	ENSP00000384016:p.Pro101Thr		G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Missense_Mutation	SNP	ENST00000405260.1	37	CCDS2545.1	.	.	.	.	.	.	.	.	.	.	G	0.841	-0.741927	0.03088	.	.	ENSG00000115687	ENST00000234040;ENST00000405260;ENST00000358649;ENST00000403638;ENST00000452907	T;T;T;T	0.66995	-0.24;-0.24;-0.19;0.76	4.67	-0.193	0.13244	.	0.522234	0.17487	N	0.172473	T	0.45155	0.1328	L	0.40543	1.245	0.18873	N	0.999988	B;B;P;B	0.38078	0.146;0.228;0.617;0.146	B;B;B;B	0.30855	0.057;0.083;0.121;0.057	T	0.43048	-0.9415	10	0.07325	T	0.83	.	9.3561	0.38168	0.8464:0.0:0.1536:0.0	.	101;101;101;101	B7Z7R6;Q96RG2-2;G5E9F1;Q96RG2	.;.;.;PASK_HUMAN	T	101	ENSP00000234040:P101T;ENSP00000384016:P101T;ENSP00000351475:P101T;ENSP00000384438:P101T	ENSP00000234040:P101T	P	-	1	0	PASK	241728737	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.569000	0.23638	-0.212000	0.10109	-0.258000	0.10820	CCG		0.597	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		T	242080064	G	T	242080064	3	4	735	1	0	0	0	0	1	0	0	0	11474	1261	44	4	3734	4	PASK	2	242080064	Missense_Mutation	SNP	G	TCGA-KN-8429-01A-11D-2310-10	111207193	242080064	1119309	14	42554											
HDAC11	79885	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	3	13544436	13544436	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr3:13544436A>G	ENST00000295757.3	+	8	788	c.605A>G	c.(604-606)gAt>gGt	p.D202G	HDAC11_ENST00000402259.1_Intron|HDAC11_ENST00000522202.1_Missense_Mutation_p.D151G|HDAC11_ENST00000402271.1_Missense_Mutation_p.D123G|HDAC11_ENST00000433119.1_Missense_Mutation_p.M160V|HDAC11_ENST00000405025.1_Intron|HDAC11_ENST00000437379.2_Missense_Mutation_p.D174G|HDAC11_ENST00000495099.2_3'UTR|HDAC11_ENST00000446613.2_Missense_Mutation_p.D10G|HDAC11_ENST00000404040.1_Missense_Mutation_p.D102G|HDAC11_ENST00000404548.1_Intron	NM_024827.3	NP_079103.2	Q96DB2	HDA11_HUMAN	histone deacetylase 11	202	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						TACATCATGGATGTCTACAAC	0.582																																																0													195	181	186					3																	13544436		2203	4300	6503	SO:0001583	missense	79885			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.605A>G	3.37:g.13544436A>G	ENSP00000295757:p.Asp202Gly		B4DDK1|Q9H6I7|Q9H6X3|Q9NTC9	Missense_Mutation	SNP	ENST00000295757.3	37	CCDS2615.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	26.9|26.9	4.784923|4.784923	0.90282|0.90282	.|.	.|.	ENSG00000163517|ENSG00000163517	ENST00000295757;ENST00000402271;ENST00000446613;ENST00000404040;ENST00000405478;ENST00000522202;ENST00000437379|ENST00000433119;ENST00000434848	T;T;T;T;T;T;T|.	0.70986|.	-0.53;-0.53;-0.53;-0.53;-0.53;-0.53;-0.53|.	4.94|4.94	4.94|4.94	0.65067|0.65067	Histone deacetylase domain (2);|.	0.117295|.	0.53938|.	D|.	0.000041|.	T|T	0.73837|0.73837	0.3638|0.3638	M|M	0.92833|0.92833	3.35|3.35	0.80722|0.80722	D|D	1|1	D;D|B	0.89917|0.14012	1.0;1.0|0.009	D;D|B	0.97110|0.11329	1.0;0.999|0.006	T|T	0.75852|0.75852	-0.3171|-0.3171	10|8	0.87932|0.87932	D|D	0|0	-10.674|-10.674	12.5707|12.5707	0.56334|0.56334	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	151;202|160	B4DDK1;Q96DB2|Q658J9	.;HDA11_HUMAN|.	G|V	202;123;10;102;174;151;174|160;168	ENSP00000295757:D202G;ENSP00000384123:D123G;ENSP00000401487:D10G;ENSP00000385475:D102G;ENSP00000385252:D174G;ENSP00000429794:D151G;ENSP00000395188:D174G|.	ENSP00000295757:D202G|ENSP00000412514:M160V	D|M	+|+	2|1	0|0	HDAC11|HDAC11	13519436|13519436	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.986000|0.986000	0.74619|0.74619	7.983000|7.983000	0.88140|0.88140	1.867000|1.867000	0.54127|0.54127	0.402000|0.402000	0.26972|0.26972	GAT|ATG		0.582	HDAC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252028.5	NM_024827		G	13544436	A	G	13544436	3	3	735	1	0	0	0	0	1	0	0	0	7008	333	12	3	635	3	HDAC11	3	13544436	Missense_Mutation	SNP	A	TCGA-KN-8429-01A-11D-2310-10		13544436	184477994	15	42555											
LRRIQ4	344657	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	3	169540071	169540071	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr3:169540071G>A	ENST00000340806.6	+	1	362	c.362G>A	c.(361-363)cGc>cAc	p.R121H		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	121										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						CACGCCCTGCGCGAGCTCCGG	0.607																																																0													53	59	57					3																	169540071		2072	4209	6281	SO:0001583	missense	344657				CCDS46951.1	3q26.2	2008-08-08	2008-06-12	2008-06-12	ENSG00000188306	ENSG00000188306			34298	protein-coding gene	gene with protein product	"leucine rich repeat containing 64"						Standard	NM_001080460		Approved	LRRC64	uc003fgb.3	A6NIV6	OTTHUMG00000164420	ENST00000340806.6:c.362G>A	3.37:g.169540071G>A	ENSP00000342188:p.Arg121His			Missense_Mutation	SNP	ENST00000340806.6	37	CCDS46951.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.565378	0.86439	.	.	ENSG00000188306	ENST00000340806	T	0.59772	0.24	5.56	5.56	0.83823	.	0.082415	0.51477	D	0.000088	T	0.61009	0.2313	M	0.77820	2.39	0.41284	D	0.986936	P	0.52316	0.952	B	0.43225	0.412	T	0.67280	-0.5710	10	0.49607	T	0.09	.	13.7965	0.63175	0.0754:0.0:0.9246:0.0	.	121	A6NIV6	LRIQ4_HUMAN	H	121	ENSP00000342188:R121H	ENSP00000342188:R121H	R	+	2	0	LRRIQ4	171022765	0.280000	0.24249	0.844000	0.33320	0.588000	0.36517	2.749000	0.47492	2.631000	0.89168	0.462000	0.41574	CGC		0.607	LRRIQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378698.1	NM_001080460		A	169540071	G	A	169540071	3	1	735	1	0	0	0	0	1	0	0	0	9033	1087	38	1	364	1	LRRIQ4	3	169540071	Missense_Mutation	SNP	G	TCGA-KN-8429-01A-11D-2310-10	155995635	169540071	28482359	16	42556											
TP63	8626	broad.mit.edu;mdanderson.org;bcgsc.ca	37	3	189526226	189526226	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr3:189526226G>A	ENST00000264731.3	+	4	579	c.490G>A	c.(490-492)Gcc>Acc	p.A164T	TP63_ENST00000449992.1_Intron|TP63_ENST00000320472.5_Missense_Mutation_p.A164T|TP63_ENST00000382063.4_Intron|TP63_ENST00000392460.3_Missense_Mutation_p.A164T|TP63_ENST00000392461.3_Missense_Mutation_p.A70T|TP63_ENST00000354600.5_Missense_Mutation_p.A70T|TP63_ENST00000392463.2_Missense_Mutation_p.A70T|TP63_ENST00000440651.2_Missense_Mutation_p.A164T|TP63_ENST00000418709.2_Missense_Mutation_p.A164T|TP63_ENST00000456148.1_Missense_Mutation_p.A70T|TP63_ENST00000437221.1_Missense_Mutation_p.A70T	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	164					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)		TCCATCACCCGCCATCCCCTC	0.637										HNSCC(45;0.13)																																						0													171	124	140					3																	189526226		2203	4300	6503	SO:0001583	missense	8626			AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"tumor protein p73-like", "tumor protein p53-like", "tumor protein p53-competing protein"	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.490G>A	3.37:g.189526226G>A	ENSP00000264731:p.Ala164Thr		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	CCDS3293.1	.	.	.	.	.	.	.	.	.	.	G	9.717	1.158763	0.21454	.	.	ENSG00000073282	ENST00000264731;ENST00000418709;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000354600;ENST00000434928;ENST00000437221;ENST00000392463;ENST00000392461;ENST00000456148	D;D;D;D;D;D;D;D;D;D;D	0.99732	-6.57;-6.57;-6.57;-6.57;-6.57;-6.57;-6.57;-6.57;-6.57;-6.57;-6.57	5.83	4.96	0.65561	p53, DNA-binding domain (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.106561	0.64402	D	0.000004	D	0.97269	0.9107	N	0.01705	-0.755	0.58432	D	0.999998	P;P;B;B;B;B;P;P;P	0.41643	0.758;0.758;0.347;0.347;0.187;0.223;0.758;0.677;0.758	B;B;B;B;B;B;B;B;B	0.41917	0.254;0.254;0.154;0.127;0.08;0.044;0.254;0.37;0.254	D	0.99222	1.0879	9	.	.	.	-7.0778	14.0633	0.64812	0.0719:0.0:0.9281:0.0	.	164;164;70;70;70;70;164;164;164	Q9H3D4-7;Q9H3D4-11;Q9H3D4-4;Q9H3D4-2;Q9H3D4-6;C9D7C9;Q9H3D4-3;Q9H3D4;Q9H3D4-5	.;.;.;.;.;.;.;P63_HUMAN;.	T	164;164;164;164;164;70;70;70;70;70;70	ENSP00000264731:A164T;ENSP00000407144:A164T;ENSP00000317510:A164T;ENSP00000376253:A164T;ENSP00000394337:A164T;ENSP00000346614:A70T;ENSP00000401661:A70T;ENSP00000392488:A70T;ENSP00000376256:A70T;ENSP00000376254:A70T;ENSP00000389485:A70T	.	A	+	1	0	TP63	191008920	1.000000	0.71417	0.888000	0.34837	0.136000	0.21042	7.863000	0.87023	1.485000	0.48380	-0.140000	0.14226	GCC		0.637	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722		A	189526226	G	A	189526226	3	1	735	1	0	0	0	0	1	0	0	0	16397	1087	38	1	550	1	TP63	3	189526226	Missense_Mutation	SNP	G	TCGA-KN-8429-01A-11D-2310-10	19986155	189526226	8496204	17	42557											
LGI2	55203	hgsc.bcm.edu;ucsc.edu	37	4	25005583	25005583	+	Silent	SNP	C	C	T			TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr4:25005583C>T	ENST00000382114.4	-	8	1313	c.1128G>A	c.(1126-1128)gcG>gcA	p.A376A		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	376						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)				CAACAAACTCCGCATCCGTGT	0.483																																																0													117	121	120					4																	25005583		2203	4300	6503	SO:0001819	synonymous_variant	55203			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.1128G>A	4.37:g.25005583C>T			Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4	Silent	SNP	ENST00000382114.4	37	CCDS3431.1																																																																																				0.483	LGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214978.1			T	25005583	C	T	25005583	2	4	735	1	0	0	0	0	0	0	0	1	8754	639	23	1		1	LGI2	4	25005583	Silent	SNP	C	TCGA-KN-8429-01A-11D-2310-10		25005583	166148693	18	42558											
ADAMTS3	9508	broad.mit.edu;mdanderson.org	37	4	73205262	73205262	+	Silent	SNP	A	A	G			TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr4:73205262A>G	ENST00000286657.4	-	5	846	c.810T>C	c.(808-810)cgT>cgC	p.R270R		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	270	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				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)			TGCCATGGAAACGGACCACAG	0.453																																					NSCLC(168;1941 2048 2918 13048 43078)											0													322	324	324					4																	73205262		2203	4300	6503	SO:0001819	synonymous_variant	9508			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.810T>C	4.37:g.73205262A>G			A1L3U9|Q9BXZ8	Silent	SNP	ENST00000286657.4	37	CCDS3553.1																																																																																				0.453	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			G	73205262	A	G	73205262	2	3	735	1	0	0	0	0	0	0	0	1	267	30	2	3		3	ADAMTS3	4	73205262	Silent	SNP	A	TCGA-KN-8429-01A-11D-2310-10	48199679	73205262	117949014	19	42559											
C4orf17	84103	broad.mit.edu;mdanderson.org	37	4	100460404	100460404	+	Missense_Mutation	SNP	A	A	C			TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr4:100460404A>C	ENST00000326581.4	+	7	1075	c.713A>C	c.(712-714)gAa>gCa	p.E238A	C4orf17_ENST00000514652.1_Missense_Mutation_p.E238A	NM_032149.2	NP_115525.2	Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	238										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)		ACCTCAATGGAACCAGCAGCA	0.428																																																0													133	137	136					4																	100460404		2203	4300	6503	SO:0001583	missense	84103			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	ENST00000326581.4:c.713A>C	4.37:g.100460404A>C	ENSP00000322582:p.Glu238Ala		Q6FI84|Q6IS77|Q8NA78|Q9H0D9	Missense_Mutation	SNP	ENST00000326581.4	37	CCDS3649.1	.	.	.	.	.	.	.	.	.	.	A	13.98	2.400323	0.42613	.	.	ENSG00000138813	ENST00000326581;ENST00000514652	T;T	0.18960	2.18;2.18	5.09	3.92	0.45320	.	0.143577	0.33477	N	0.004867	T	0.33673	0.0871	M	0.69823	2.125	0.09310	N	1	D	0.60160	0.987	P	0.56751	0.805	T	0.11867	-1.0570	10	0.34782	T	0.22	-18.0611	7.0975	0.25317	0.9013:0.0:0.0987:0.0	.	238	Q53FE4	CD017_HUMAN	A	238	ENSP00000322582:E238A;ENSP00000427663:E238A	ENSP00000322582:E238A	E	+	2	0	C4orf17	100679427	0.272000	0.24172	0.066000	0.19879	0.050000	0.14768	1.885000	0.39678	0.987000	0.38709	0.533000	0.62120	GAA		0.428	C4orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253670.2	NM_032149		C	100460404	A	C	100460404	3	2	735	1	0	0	0	0	1	0	0	0	2254	246	9	5	735	5	C4orf17	4	100460404	Missense_Mutation	SNP	A	TCGA-KN-8429-01A-11D-2310-10	27255142	100460404	90693872	20	42560											
TBCK	93627	broad.mit.edu	37	4	107154198	107154198	+	Silent	SNP	A	A	G	rs149535149		TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr4:107154198A>G	ENST00000273980.5	-	18	1983	c.1536T>C	c.(1534-1536)tgT>tgC	p.C512C	TBCK_ENST00000394706.3_Silent_p.C473C|TBCK_ENST00000432496.2_Silent_p.C512C|TBCK_ENST00000394708.2_Silent_p.C512C|TBCK_ENST00000361687.4_Silent_p.C449C					TBC1 domain containing kinase											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						CGTACTGATGACAGCGAGGAA	0.363																																																0								A	,,,	0,4406		0,0,2203	122	116	118		1536,1536,1419,1347	1.5	1	4	dbSNP_134	118	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TBCK	NM_001163435.1,NM_001163436.1,NM_001163437.1,NM_033115.3	,,,	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	,,,	512/894,512/894,473/855,449/831	107154198	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	93627				CCDS3673.1, CCDS54788.1, CCDS54789.1	4q24	2014-09-17			ENSG00000145348	ENSG00000145348			28261	protein-coding gene	gene with protein product						12471243	Standard	XR_427553		Approved	MGC16169, HSPC302	uc010ilv.2	Q8TEA7	OTTHUMG00000131214	ENST00000273980.5:c.1536T>C	4.37:g.107154198A>G				Silent	SNP	ENST00000273980.5	37	CCDS54788.1																																																																																				0.363	TBCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253953.4	NM_033115		G	107154198	A	G	107154198	2	3	735	1	0	0	0	0	0	0	0	1	15641	273	10	3		3	TBCK	4	107154198	Silent	SNP	A	TCGA-KN-8429-01A-11D-2310-10	6693794	107154198	84000078	21	42561											
TERT	7015	broad.mit.edu	37	5	1294102	1294102	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr5:1294102delC	ENST00000310581.5	-	2	956	c.899delG	c.(898-900)ggcfs	p.G300fs	TERT_ENST00000296820.5_Frame_Shift_Del_p.G300fs|TERT_ENST00000508104.2_Frame_Shift_Del_p.G300fs|TERT_ENST00000522877.1_5'Flank|TERT_ENST00000334602.6_Frame_Shift_Del_p.G300fs	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	300	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)	GTGCTGGCGGCCCACGGATGG	0.677									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																																							0													18	17	17					5																	1294102		2161	4254	6415	SO:0001589	frameshift_variant	7015	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.899delG	5.37:g.1294102delC	ENSP00000309572:p.Gly300fs		O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Frame_Shift_Del	DEL	ENST00000310581.5	37	CCDS3861.2																																																																																				0.677	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2			-	1294102	C	-	1294102	7	5	735	1	0	1	0	1	0	0	0	0	15769	739	26	0	2559	0	TERT	5	1294102	Frame_Shift_Del	DEL	C	TCGA-KN-8429-01A-11D-2310-10		1294102	179621158	22	42562											
ERAP2	64167	bcgsc.ca	37	5	96232568	96232568	+	Splice_Site	SNP	G	G	A	rs75364820		TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr5:96232568G>A	ENST00000437043.3	+	9	2214		c.e9+1		ERAP2_ENST00000379904.4_Splice_Site|CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000515095.1_Splice_Site	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2						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)		TCTGTCAAATGTAAGTCATAT	0.323																																																0													106	115	112					5																	96232568		2203	4298	6501	SO:0001630	splice_region_variant	64167			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.1503+1G>A	5.37:g.96232568G>A			Q7Z5K1|Q8TD32|Q8WVJ4|Q9HBX2	Splice_Site	SNP	ENST00000437043.3	37	CCDS4086.1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.690341	0.29962	.	.	ENSG00000164308	ENST00000437043;ENST00000510373;ENST00000513084;ENST00000379904	.	.	.	5.01	3.23	0.37069	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.6132	0.45434	0.1496:0.0:0.8504:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ERAP2	96258324	1.000000	0.71417	0.243000	0.24186	0.446000	0.32137	6.798000	0.75155	0.630000	0.30394	0.563000	0.77884	.		0.323	ERAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250623.2	NM_022350	Intron	A	96232568	G	A	96232568	5	1	735	1	0	0	0	0	0	0	1	0	5206	1391	48	2	1534	2	ERAP2	5	96232568	Splice_Site	SNP	G	TCGA-KN-8429-01A-11D-2310-10	94938466	96232568	84682692	23	42563											
RNF145	153830	bcgsc.ca	37	5	158630640	158630640	+	5'UTR	SNP	T	T	C	rs368977591		TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr5:158630640T>C	ENST00000424310.2	-	0	345				RNF145_ENST00000521606.2_Missense_Mutation_p.K13E|RNF145_ENST00000518802.1_Missense_Mutation_p.K26E|RNF145_ENST00000520638.1_Missense_Mutation_p.K10E|RNF145_ENST00000519865.1_5'UTR|RNF145_ENST00000274542.2_Missense_Mutation_p.K24E	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145							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)			tttttttttttcttttttttt	0.368																																																0													33	36	35					5																	158630640		2203	4300	6503	SO:0001623	5_prime_UTR_variant	153830			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.-15A>G	5.37:g.158630640T>C			B7Z903|B7Z949|E7EVI7|Q8IVP7	Missense_Mutation	SNP	ENST00000424310.2	37	CCDS56390.1	.	.	.	.	.	.	.	.	.	.	T	0.006	-2.071233	0.00379	.	.	ENSG00000145860	ENST00000274542;ENST00000521606;ENST00000413445;ENST00000518802;ENST00000520638	T;T;T;T;T	0.77489	-1.09;-1.07;-1.07;-1.1;-1.06	1.66	0.33	0.15929	.	4.233800	0.00610	N	0.000418	T	0.52581	0.1743	N	0.08118	0	0.09310	N	0.999996	P;P;P;P;P	0.42584	0.784;0.544;0.544;0.544;0.673	B;B;B;B;B	0.28638	0.092;0.032;0.032;0.032;0.071	T	0.53711	-0.8400	10	0.41790	T	0.15	18.6048	3.7362	0.08511	0.0:0.2254:0.0:0.7746	.	12;13;10;26;24	E7EW26;B7Z949;B7Z903;E7EVI7;Q96MT1-2	.;.;.;.;.	E	24;12;13;26;10	ENSP00000274542:K24E;ENSP00000430753:K12E;ENSP00000445115:K13E;ENSP00000430955:K26E;ENSP00000429071:K10E	ENSP00000274542:K24E	K	-	1	0	RNF145	158563218	0.030000	0.19436	0.002000	0.10522	0.002000	0.02628	0.517000	0.22832	-0.074000	0.12820	-1.322000	0.01289	AAA		0.368	RNF145-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374048.1	NM_144726		C	158630640	T	C	158630640	1	2	735	0	1	0	0	0	0	0	0	0	13453	1792	62	3		3	RNF145	5	158630640	5'UTR	SNP	T	TCGA-KN-8429-01A-11D-2310-10	62398072	158630640	22284620	24	42564											
ELMO1	9844	broad.mit.edu	37	7	37136306	37136306	+	Silent	SNP	T	T	C			TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr7:37136306T>C	ENST00000310758.4	-	15	1865	c.1218A>G	c.(1216-1218)gaA>gaG	p.E406E	ELMO1_ENST00000442504.1_Silent_p.E406E|ELMO1_ENST00000448602.1_Silent_p.E406E|ELMO1_ENST00000341056.3_Silent_p.E108E	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	406	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						CATGCTTGTCTTCTCGACTAC	0.408																																																0													177	142	154					7																	37136306		2203	4300	6503	SO:0001819	synonymous_variant	9844			AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"Engulfment and cell motility proteins"	16286	protein-coding gene	gene with protein product		606420	"engulfment and cell motility 1 (ced-12 homolog, C. elegans)"			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.1218A>G	7.37:g.37136306T>C			A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Silent	SNP	ENST00000310758.4	37	CCDS5449.1	.	.	.	.	.	.	.	.	.	.	T	9.607	1.130145	0.21041	.	.	ENSG00000155849	ENST00000433246	.	.	.	4.96	4.96	0.65561	.	.	.	.	.	T	0.70762	0.3261	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70510	-0.4852	4	.	.	.	.	14.9674	0.71204	0.0:0.0:0.0:1.0	.	.	.	.	R	186	.	.	K	-	2	0	ELMO1	37102831	0.999000	0.42202	1.000000	0.80357	0.988000	0.76386	0.469000	0.22067	1.998000	0.58463	0.460000	0.39030	AAG		0.408	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442		C	37136306	T	C	37136306	2	2	735	1	0	0	0	0	0	0	0	1	5067	1606	56	3		3	ELMO1	7	37136306	Silent	SNP	T	TCGA-KN-8429-01A-11D-2310-10		37136306	122002357	25	42565											
ATP6V0A4	50617	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	7	138437565	138437566	+	Missense_Mutation	DNP	CT	CT	GA			TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr7:138437565_138437566CT>GA	ENST00000310018.2	-	11	1115_1116	c.833_834AG>TC	c.(832-834)gAG>gTC	p.E278V	ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.E278V|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.E278V	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	278					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						GGCGGTGAGACTCTGTTTGTGT	0.495																																																0																																										SO:0001583	missense	50617			AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"ATPases / V-type"	866	protein-coding gene	gene with protein product		605239	"ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B", "ATPase, H+ transporting, lysosomal V0 subunit a isoform 4", "ATPase, H+ transporting, lysosomal V0 subunit A4"	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.833_834delinsGA	7.37:g.138437565_138437566delinsGA	ENSP00000308122:p.Glu278Val		A4D1R4|A8KA80|Q32M47	Missense_Mutation	DNP	ENST00000310018.2	37	CCDS5849.1																																																																																				0.495	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347514.1	NM_020632		GA	138437566	CT	GA	138437565	3	3	735	1	0	0	0	0	1	0	0	0	1170	564	20	4	1736	4	ATP6V0A4	7	138437565	Missense_Mutation	DNP	CT	TCGA-KN-8429-01A-11D-2310-10	101301259	138437565	20701098	26	42566	394	2									
ATP6V0A4	50617	bcgsc.ca	37	7	138437566	138437566	+	Missense_Mutation	SNP	T	T	A			TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr7:138437566T>A	ENST00000310018.2	-	11	1115	c.833A>T	c.(832-834)gAg>gTg	p.E278V	ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.E278V|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.E278V	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	278					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						GCGGTGAGACTCTGTTTGTGT	0.498																																																0													61	57	59					7																	138437566		2203	4300	6503	SO:0001583	missense	50617			AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"ATPases / V-type"	866	protein-coding gene	gene with protein product		605239	"ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B", "ATPase, H+ transporting, lysosomal V0 subunit a isoform 4", "ATPase, H+ transporting, lysosomal V0 subunit A4"	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.833A>T	7.37:g.138437566T>A	ENSP00000308122:p.Glu278Val		A4D1R4|A8KA80|Q32M47	Missense_Mutation	SNP	ENST00000310018.2	37	CCDS5849.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.777405	0.90195	.	.	ENSG00000105929	ENST00000310018;ENST00000393054;ENST00000353492	D;D;D	0.87256	-2.23;-2.23;-2.23	5.49	5.49	0.81192	.	0.152547	0.47455	D	0.000235	D	0.93966	0.8068	M	0.85859	2.78	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.94767	0.7941	10	0.72032	D	0.01	-28.8362	15.8766	0.79170	0.0:0.0:0.0:1.0	.	278	Q9HBG4	VPP4_HUMAN	V	278	ENSP00000308122:E278V;ENSP00000376774:E278V;ENSP00000253856:E278V	ENSP00000308122:E278V	E	-	2	0	ATP6V0A4	138088106	1.000000	0.71417	0.972000	0.41901	0.977000	0.68977	6.134000	0.71689	2.208000	0.71279	0.533000	0.62120	GAG		0.498	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347514.1	NM_020632		A	138437566	T	A	138437566	3	1	735	1	0	0	0	0	1	0	0	0	1170	1551	54	5	1737	5	ATP6V0A4	7	138437566	Missense_Mutation	SNP	T	TCGA-KN-8429-01A-11D-2310-10	1	138437566	20701097	27	42567	394	2									
MNX1	3110	hgsc.bcm.edu;bcgsc.ca	37	7	156799223	156799223	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr7:156799223G>A	ENST00000252971.6	-	2	1102	c.802C>T	c.(802-804)Cgg>Tgg	p.R268W	MNX1_ENST00000543409.1_Missense_Mutation_p.R56W|MNX1_ENST00000469500.1_Intron|MNX1-AS2_ENST00000429228.1_RNA	NM_005515.3	NP_005506.3	P50219	MNX1_HUMAN	motor neuron and pancreas homeobox 1	268					anatomical structure morphogenesis (GO:0009653)|diaphragm development (GO:0060539)|dorsal/ventral neural tube patterning (GO:0021904)|endocrine pancreas development (GO:0031018)|humoral immune response (GO:0006959)|motor neuron axon guidance (GO:0008045)|nerve development (GO:0021675)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord motor neuron cell fate specification (GO:0021520)|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)|large_intestine(1)|lung(4)|skin(1)	7	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGCTTGGGCCGCGACAGGTAC	0.697																																																0													44	43	43					7																	156799223		2202	4300	6502	SO:0001583	missense	3110			AF107457	CCDS34788.1, CCDS55187.1	7q36	2012-03-09	2007-08-09	2007-08-09	ENSG00000130675	ENSG00000130675		"Homeoboxes / ANTP class : HOXL subclass"	4979	protein-coding gene	gene with protein product		142994	"homeo box HB9", "homeobox HB9"	HLXB9		9843207	Standard	NM_001165255		Approved	HB9, HOXHB9, SCRA1	uc003wmz.4	P50219	OTTHUMG00000157181	ENST00000252971.6:c.802C>T	7.37:g.156799223G>A	ENSP00000252971:p.Arg268Trp		F5H401|Q9Y648	Missense_Mutation	SNP	ENST00000252971.6	37	CCDS34788.1	.	.	.	.	.	.	.	.	.	.	G	19.42	3.824984	0.71143	.	.	ENSG00000130675	ENST00000252971;ENST00000543409;ENST00000542972;ENST00000428439	D;D;D	0.96459	-4.02;-4.02;-4.02	3.96	0.905	0.19307	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.36972	U	0.002313	D	0.98479	0.9493	H	0.95850	3.73	0.42035	D	0.991044	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.995	D	0.98607	1.0661	10	0.87932	D	0	-27.5498	12.5851	0.56412	0.0:0.0:0.4215:0.5785	.	104;268;56	Q9UDY3;P50219;F5H401	.;MNX1_HUMAN;.	W	268;56;98;56	ENSP00000252971:R268W;ENSP00000438552:R56W;ENSP00000401158:R56W	ENSP00000252971:R268W	R	-	1	2	MNX1	156491984	0.467000	0.25831	0.845000	0.33349	0.985000	0.73830	0.680000	0.25306	-0.054000	0.13266	-0.276000	0.10085	CGG		0.697	MNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347796.3			A	156799223	G	A	156799223	3	1	735	1	0	0	0	0	1	0	0	0	9681	1086	38	1	411	1	MNX1	7	156799223	Missense_Mutation	SNP	G	TCGA-KN-8429-01A-11D-2310-10	18361657	156799223	2339440	28	42568											
PPP1R3B	79660	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	8	8998708	8998708	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr8:8998708G>A	ENST00000310455.3	-	2	604	c.454C>T	c.(454-456)Cag>Tag	p.Q152*	PPP1R3B_ENST00000519699.1_Nonsense_Mutation_p.Q152*|RP11-10A14.3_ENST00000520017.1_RNA|RP11-10A14.3_ENST00000522057.1_RNA	NM_001201329.1|NM_024607.3	NP_001188258.1|NP_078883.2	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory subunit 3B	152	CBM21. {ECO:0000255|PROSITE- ProRule:PRU00491}.				glycogen metabolic process (GO:0005977)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)	glycogen granule (GO:0042587)|intracellular membrane-bounded organelle (GO:0043231)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase regulator activity (GO:0019888)			endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		GCGAGGTTCTGAACCTTCACA	0.478																																																0													188	161	170					8																	8998708		2203	4300	6503	SO:0001587	stop_gained	79660			AK024067	CCDS5973.1	8p23.1	2012-04-17	2011-10-04		ENSG00000173281	ENSG00000173281		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14942	protein-coding gene	gene with protein product	"PP1 subunit R4", "hepatic glycogen-targeting subunit, G(L)"	610541	"protein phosphatase 1, regulatory (inhibitor) subunit 3B"			11948623, 17555403	Standard	NM_024607		Approved	GL, FLJ14005, PPP1R4	uc003wsn.4	Q86XI6	OTTHUMG00000129329	ENST00000310455.3:c.454C>T	8.37:g.8998708G>A	ENSP00000308318:p.Gln152*		B3KTV3|Q9H812	Nonsense_Mutation	SNP	ENST00000310455.3	37	CCDS5973.1	.	.	.	.	.	.	.	.	.	.	G	38	7.007912	0.97998	.	.	ENSG00000173281	ENST00000310455;ENST00000519699	.	.	.	5.87	5.87	0.94306	.	0.098174	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-24.5559	12.7339	0.57212	0.0:0.0:0.7426:0.2574	.	.	.	.	X	152	.	ENSP00000308318:Q152X	Q	-	1	0	PPP1R3B	9036118	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.830000	0.69324	2.780000	0.95670	0.561000	0.74099	CAG		0.478	PPP1R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251472.1	NM_024607		A	8998708	G	A	8998708	4	1	735	1	0	0	0	0	0	1	0	0	12377	1299	45	2	407	2	PPP1R3B	8	8998708	Nonsense_Mutation	SNP	G	TCGA-KN-8429-01A-11D-2310-10		8998708	137365314	29	42569											
DOCK5	80005	bcgsc.ca	37	8	25178551	25178551	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr8:25178551A>G	ENST00000276440.7	+	16	1642	c.1598A>G	c.(1597-1599)cAc>cGc	p.H533R		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	533	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)		ACCTTCCGACACAGGTCATCT	0.373																																					Pancreas(145;34 1887 3271 10937 30165)											0													76	68	71					8																	25178551		2203	4300	6503	SO:0001583	missense	80005				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.1598A>G	8.37:g.25178551A>G	ENSP00000276440:p.His533Arg		B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.536956	0.85812	.	.	ENSG00000147459	ENST00000276440	T	0.17691	2.26	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.54532	0.1864	M	0.93375	3.41	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	0.66448	-0.5921	10	0.72032	D	0.01	.	16.8061	0.85666	1.0:0.0:0.0:0.0	.	523;308;533	D3DSS6;Q68DL4;Q9H7D0	.;.;DOCK5_HUMAN	R	533	ENSP00000276440:H533R	ENSP00000276440:H533R	H	+	2	0	DOCK5	25234468	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.692000	0.91284	2.367000	0.80283	0.528000	0.53228	CAC		0.373	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		G	25178551	A	G	25178551	3	3	735	1	0	0	0	0	1	0	0	0	4692	159	6	3	1660	3	DOCK5	8	25178551	Missense_Mutation	SNP	A	TCGA-KN-8429-01A-11D-2310-10	16179843	25178551	121185471	30	42570											
FBXO16	157574	broad.mit.edu	37	8	28321189	28321189	+	Missense_Mutation	SNP	C	C	A			TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr8:28321189C>A	ENST00000380254.2	-	4	430	c.282G>T	c.(280-282)agG>agT	p.R94S	FBXO16_ENST00000517436.1_5'UTR|FBXO16_ENST00000346498.2_Missense_Mutation_p.R82S|FBXO16_ENST00000518734.1_Missense_Mutation_p.R82S	NM_001258211.1|NM_172366.3	NP_001245140.1|NP_758954.1	Q8IX29	FBX16_HUMAN	F-box protein 16	94	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.									large_intestine(2)|ovary(1)	3		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)		AAGATAACACCCTTGGAAGCT	0.483																																																0													72	70	70					8																	28321189		2203	4300	6503	SO:0001583	missense	157574			AF453435	CCDS6068.1, CCDS59099.1	8p21.1	2008-02-05	2004-06-15		ENSG00000214050	ENSG00000214050		"F-boxes /  "other""	13618	protein-coding gene	gene with protein product		608519	"F-box only protein 16"			12243353	Standard	NM_172366		Approved	FBX16	uc003xgu.4	Q8IX29	OTTHUMG00000102147	ENST00000380254.2:c.282G>T	8.37:g.28321189C>A	ENSP00000369604:p.Arg94Ser		Q3T1B2|Q3T1B3|Q3T1B4	Missense_Mutation	SNP	ENST00000380254.2	37	CCDS6068.1	.	.	.	.	.	.	.	.	.	.	C	18.47	3.630403	0.67015	.	.	ENSG00000214050	ENST00000380254;ENST00000346498;ENST00000518734;ENST00000517673	T;T;T;T	0.53857	1.04;1.04;1.04;0.6	5.63	1.67	0.24075	F-box domain, cyclin-like (2);F-box domain, Skp2-like (1);	0.000000	0.85682	U	0.000000	T	0.48660	0.1512	L	0.35542	1.07	0.80722	D	1	P;P;P	0.50156	0.832;0.932;0.932	P;P;P	0.54965	0.669;0.765;0.765	T	0.44636	-0.9315	10	0.87932	D	0	-46.5598	4.7587	0.13097	0.0:0.4167:0.2818:0.3015	.	82;82;94	Q3T1B3;Q3T1B2;Q8IX29	.;.;FBX16_HUMAN	S	94;82;82;94	ENSP00000369604:R94S;ENSP00000341416:R82S;ENSP00000429687:R82S;ENSP00000429390:R94S	ENSP00000341416:R82S	R	-	3	2	FBXO16	28377108	0.831000	0.29352	0.877000	0.34402	0.977000	0.68977	-0.041000	0.12084	0.088000	0.17205	-0.218000	0.12543	AGG		0.483	FBXO16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219988.2	NM_172366		A	28321189	C	A	28321189	3	1	735	1	0	0	0	0	1	0	0	0	5731	622	22	4	620	4	FBXO16	8	28321189	Missense_Mutation	SNP	C	TCGA-KN-8429-01A-11D-2310-10	3142638	28321189	118042833	31	42571											
ABCA1	19	hgsc.bcm.edu	37	9	107556793	107556794	+	Splice_Site	INS	-	-	A	rs397938228|rs77663187|rs377469216		TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr9:107556793_107556794insA	ENST00000374736.3	-	40	5777		c.e40-2			NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1						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)	p.?(2)		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)	ATTCAGCTTCTAAAAAAAAAAA	0.406																																																2	Unknown(2)	lung(1)|kidney(1)																																								SO:0001630	splice_region_variant	19			AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"ATP binding cassette transporters / subfamily A"	29	protein-coding gene	gene with protein product	"Tangier disease"	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.5383-2->T	9.37:g.107556804_107556804dupA			Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Splice_Site	INS	ENST00000374736.3	37	CCDS6762.1																																																																																				0.406	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502	Intron	A	107556794	-	A	107556793	8	5	735	1	0	1	1	0	0	0	1	0	28	1536	53	0	1448	0	ABCA1	9	107556793	Splice_Site	INS	-	TCGA-KN-8429-01A-11D-2310-10		107556793	33656638	32	42572											
CUL2	8453	hgsc.bcm.edu;bcgsc.ca	37	10	35320289	35320289	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr10:35320289C>T	ENST00000374748.1	-	15	1638	c.1325G>A	c.(1324-1326)cGt>cAt	p.R442H	CUL2_ENST00000374751.3_Missense_Mutation_p.R442H|CUL2_ENST00000537177.1_Missense_Mutation_p.R461H|CUL2_ENST00000374746.1_Missense_Mutation_p.R442H|CUL2_ENST00000374742.1_Missense_Mutation_p.R442H|CUL2_ENST00000374749.3_Missense_Mutation_p.R442H|CUL2_ENST00000602371.1_Missense_Mutation_p.R385H			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						ATGAATTAAACGTTTTGCCAG	0.303																																																0													84	83	83					10																	35320289		2203	4300	6503	SO:0001583	missense	8453			U83410	CCDS7179.1, CCDS73086.1	10p11.2	2011-05-24			ENSG00000108094	ENSG00000108094			2552	protein-coding gene	gene with protein product		603135				8681378	Standard	NM_003591		Approved		uc021ppa.1	Q13617	OTTHUMG00000017950	ENST00000374748.1:c.1325G>A	10.37:g.35320289C>T	ENSP00000363880:p.Arg442His		B3KT95|B7Z6K8|D3DRY6|G3V1S2|O00200|Q5T2B6|Q9UNF9	Missense_Mutation	SNP	ENST00000374748.1	37	CCDS7179.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.914130	0.92178	.	.	ENSG00000108094	ENST00000374751;ENST00000374748;ENST00000374746;ENST00000374749;ENST00000374754;ENST00000374742;ENST00000537177	D;D;D;D;D;D	0.89939	-2.59;-2.59;-2.59;-2.59;-2.59;-2.59	5.87	4.97	0.65823	Cullin, N-terminal (1);Cullin homology (3);	0.000000	0.85682	D	0.000000	D	0.95335	0.8486	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;1.0	D	0.96153	0.9109	10	0.87932	D	0	-18.5811	15.1993	0.73122	0.0:0.9322:0.0:0.0678	.	442;461;442	Q5T2B5;G3V1S2;Q13617	.;.;CUL2_HUMAN	H	442;442;442;442;385;442;461	ENSP00000363883:R442H;ENSP00000363880:R442H;ENSP00000363878:R442H;ENSP00000363881:R442H;ENSP00000363874:R442H;ENSP00000444856:R461H	ENSP00000363874:R442H	R	-	2	0	CUL2	35360295	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.814000	0.86154	1.477000	0.48234	0.591000	0.81541	CGT		0.303	CUL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047538.1	NM_003591		T	35320289	C	T	35320289	3	4	735	1	0	0	0	0	1	0	0	0	4057	536	19	1	944	1	CUL2	10	35320289	Missense_Mutation	SNP	C	TCGA-KN-8429-01A-11D-2310-10		35320289	100214458	33	42573											
TDRD1	56165	broad.mit.edu	37	10	115973824	115973824	+	Silent	SNP	T	T	C			TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr10:115973824T>C	ENST00000369280.1	+	16	2623	c.2163T>C	c.(2161-2163)tgT>tgC	p.C721C	TDRD1_ENST00000251864.2_Silent_p.C721C|TDRD1_ENST00000369281.2_Silent_p.C664C|TDRD1_ENST00000422662.1_Silent_p.C325C|TDRD1_ENST00000369282.1_Silent_p.C721C			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	721					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)		TTGTGGTCTGTGTGATATATA	0.373																																																0													281	261	268					10																	115973824		2203	4300	6503	SO:0001819	synonymous_variant	56165			AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"Tudor domain containing"	11712	protein-coding gene	gene with protein product	"cancer/testis antigen 41.1"	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.2163T>C	10.37:g.115973824T>C			A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Silent	SNP	ENST00000369280.1	37																																																																																					0.373	TDRD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050457.2			C	115973824	T	C	115973824	2	2	735	1	0	0	0	0	0	0	0	1	15735	1702	59	3		3	TDRD1	10	115973824	Silent	SNP	T	TCGA-KN-8429-01A-11D-2310-10	80653535	115973824	19560923	34	42574											
ANO9	338440	broad.mit.edu	37	11	421030	421030	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr11:421030C>T	ENST00000332826.6	-	17	1489	c.1405G>A	c.(1405-1407)Ggc>Agc	p.G469S		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	469					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						ATCATGCAGCCGCTGGCGTGG	0.657																																																0													25	27	27					11																	421030		2201	4293	6494	SO:0001583	missense	338440			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.1405G>A	11.37:g.421030C>T	ENSP00000332788:p.Gly469Ser		B3KUC4|B4E134|Q8TEN4	Missense_Mutation	SNP	ENST00000332826.6	37	CCDS31326.1	.	.	.	.	.	.	.	.	.	.	C	34	5.335785	0.95758	.	.	ENSG00000185101	ENST00000332826	T	0.71579	-0.58	3.99	3.99	0.46301	.	0.217963	0.38548	N	0.001644	D	0.85279	0.5660	M	0.85299	2.745	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88270	0.2929	10	0.62326	D	0.03	.	16.4677	0.84087	0.0:1.0:0.0:0.0	.	170;469	A1A5B4-2;A1A5B4	.;ANO9_HUMAN	S	469	ENSP00000332788:G469S	ENSP00000332788:G469S	G	-	1	0	ANO9	411030	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.818000	0.62657	1.946000	0.56461	0.306000	0.20318	GGC		0.657	ANO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384116.1	NM_001012302		T	421030	C	T	421030	3	4	735	1	0	0	0	0	1	0	0	0	704	652	23	1	971	1	ANO9	11	421030	Missense_Mutation	SNP	C	TCGA-KN-8429-01A-11D-2310-10		421030	134585486	35	42575											
MUC6	4588	broad.mit.edu	37	11	1018550	1018551	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr11:1018550_1018551insG	ENST00000421673.2	-	31	4300_4301	c.4250_4251insC	c.(4249-4251)cctfs	p.P1417fs		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1417	Pro-rich.|Thr-rich.				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)		GACCTGTGGAAGGGACGGGACT	0.559																																																0																																										SO:0001589	frameshift_variant	4588			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.4251dupC	11.37:g.1018553_1018553dupG	ENSP00000406861:p.Pro1417fs		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Frame_Shift_Ins	INS	ENST00000421673.2	37	CCDS44513.1																																																																																				0.559	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		G	1018551	-	G	1018550	7	5	735	1	0	1	1	0	0	0	0	0	9982	59	3	0	3080	0	MUC6	11	1018550	Frame_Shift_Ins	INS	-	TCGA-KN-8429-01A-11D-2310-10	597520	1018550	133987966	36	42576											
OR52M1	119772	mdanderson.org	37	11	4566711	4566711	+	Silent	SNP	C	C	T	rs2709182	byFrequency	TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr11:4566711C>T	ENST00000360213.1	+	1	291	c.291C>T	c.(289-291)gaC>gaT	p.D97D		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	97						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)		TTGGCCTGGACGCCTGCTTGG	0.512													T|||	2190	0.4373	0.5174	0.3444	5008	,	,		21627	0.2639		0.492	False		,,,				2504	0.5174															0								T		2223,2179	585.3+/-386.2	556,1111,534	164	148	153		291	4.7	1	11	dbSNP_100	153	4454,4142	565.0+/-388.4	1154,2146,998	no	coding-synonymous	OR52M1	NM_001004137.1		1710,3257,1532	TT,TC,CC		48.1852,49.5002,48.6306		97/318	4566711	6677,6321	2201	4298	6499	SO:0001819	synonymous_variant	119772			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.291C>T	11.37:g.4566711C>T				Silent	SNP	ENST00000360213.1	37	CCDS31353.1																																																																																				0.512	OR52M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385847.1	NM_001004137		T	4566711	C	T	4566711	2	4	735	1	0	0	0	0	0	0	0	1	11128	535	19	1		1	OR52M1	11	4566711	Silent	SNP	C	TCGA-KN-8429-01A-11D-2310-10	3548161	4566711	130439805	37	42577											
ANO3	63982	mdanderson.org	37	11	26569053	26569053	+	Silent	SNP	C	C	T	rs201539223		TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr11:26569053C>T	ENST00000256737.3	+	12	2097	c.1245C>T	c.(1243-1245)tgC>tgT	p.C415C	ANO3_ENST00000529242.1_3'UTR|ANO3_ENST00000531568.1_Silent_p.C269C|ANO3_ENST00000537978.1_Silent_p.C399C|ANO3_ENST00000525139.1_Silent_p.C399C	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						TTGGTTTGTGCGTTTTCTTCT	0.368													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17646	0.0		0.0	False		,,,				2504	0.0															0													320	287	298					11																	26569053		2203	4300	6503	SO:0001819	synonymous_variant	63982			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.1245C>T	11.37:g.26569053C>T			B7Z3F5	Silent	SNP	ENST00000256737.3	37	CCDS31447.1																																																																																				0.368	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		T	26569053	C	T	26569053	2	4	735	1	0	0	0	0	0	0	0	1	698	776	27	1		1	ANO3	11	26569053	Silent	SNP	C	TCGA-KN-8429-01A-11D-2310-10	22002342	26569053	108437463	38	42578											
OR5D18	219438	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	11	55587779	55587779	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr11:55587779C>T	ENST00000333976.4	+	1	694	c.674C>T	c.(673-675)aCc>aTc	p.T225I		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	225						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)				ATTGTTGTAACCATCCTCAAG	0.488																																																0													171	141	151					11																	55587779		2200	4296	6496	SO:0001583	missense	219438			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.674C>T	11.37:g.55587779C>T	ENSP00000335025:p.Thr225Ile		Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	ENST00000333976.4	37	CCDS31510.1	.	.	.	.	.	.	.	.	.	.	.	5.664	0.307208	0.10733	.	.	ENSG00000186119	ENST00000333976	T	0.00193	8.58	4.73	4.73	0.59995	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40640	N	0.001058	T	0.00384	0.0012	M	0.85859	2.78	0.09310	N	1	P	0.37330	0.59	B	0.43575	0.424	T	0.18903	-1.0322	10	0.72032	D	0.01	-52.0107	12.7851	0.57500	0.1644:0.8356:0.0:0.0	.	225	Q8NGL1	OR5DI_HUMAN	I	225	ENSP00000335025:T225I	ENSP00000335025:T225I	T	+	2	0	OR5D18	55344355	0.005000	0.15991	0.123000	0.21794	0.068000	0.16541	2.037000	0.41174	2.402000	0.81655	0.567000	0.79289	ACC		0.488	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		T	55587779	C	T	55587779	3	4	735	1	0	0	0	0	1	0	0	0	11159	507	18	2	676	2	OR5D18	11	55587779	Missense_Mutation	SNP	C	TCGA-KN-8429-01A-11D-2310-10	29018726	55587779	79418737	39	42579											
SF1	7536	mdanderson.org	37	11	64533401	64533401	+	Silent	SNP	A	A	C			TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr11:64533401A>C	ENST00000377390.3	-	13	2146	c.1809T>G	c.(1807-1809)ccT>ccG	p.P603P	SF1_ENST00000334944.5_Intron|SF1_ENST00000377387.1_Intron|SF1_ENST00000433274.2_Silent_p.P577P|SF1_ENST00000227503.9_Intron|SF1_ENST00000422298.2_Intron|SF1_ENST00000377394.3_Intron|SF1_ENST00000489544.1_5'Flank	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	603	Pro-rich.				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						TGGGAGGCGGAGGAGGAGGGG	0.726																																																0													8	8	8					11																	64533401		2124	4172	6296	SO:0001819	synonymous_variant	7536			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.1809T>G	11.37:g.64533401A>C			B7Z1Q1|C9JJE2|Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	Silent	SNP	ENST00000377390.3	37	CCDS31599.1	.	.	.	.	.	.	.	.	.	.	A	7.114	0.576643	0.13686	.	.	ENSG00000168066	ENST00000413725	.	.	.	4.73	0.919	0.19392	.	.	.	.	.	T	0.42607	0.1210	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.20107	-1.0285	4	.	.	.	.	1.9493	0.03363	0.4292:0.3236:0.0907:0.1565	.	.	.	.	R	173	.	.	L	-	2	0	SF1	64289977	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	1.067000	0.30616	-0.091000	0.12440	0.454000	0.30748	CTC		0.726	SF1-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143242.1	NM_004630		C	64533401	A	C	64533401	2	2	735	1	0	0	0	0	0	0	0	1	14151	291	11	5		5	SF1	11	64533401	Silent	SNP	A	TCGA-KN-8429-01A-11D-2310-10	8945622	64533401	70473115	40	42580											
FGF6	2251	ucsc.edu	37	12	4554715	4554715	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr12:4554715A>G	ENST00000228837.2	-	1	65	c.22T>C	c.(22-24)Ttc>Ctc	p.F8L		NM_020996.1	NP_066276.2	P10767	FGF6_HUMAN	fibroblast growth factor 6	8					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)			ATAGTGATGAACAGTTTCTGT	0.582																																																0													49	56	54					12																	4554715		2203	4300	6503	SO:0001583	missense	2251			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.22T>C	12.37:g.4554715A>G	ENSP00000228837:p.Phe8Leu		Q0VAE1	Missense_Mutation	SNP	ENST00000228837.2	37	CCDS8527.1	.	.	.	.	.	.	.	.	.	.	A	6.186	0.402488	0.11696	.	.	ENSG00000111241	ENST00000228837	T	0.32753	1.44	5.0	1.03	0.20045	.	0.165360	0.56097	N	0.000034	T	0.08313	0.0207	N	0.01729	-0.75	0.31700	N	0.640804	B	0.02656	0.0	B	0.01281	0.0	T	0.40059	-0.9583	10	0.02654	T	1	.	7.2764	0.26288	0.3464:0.0:0.6536:0.0	.	8	P10767	FGF6_HUMAN	L	8	ENSP00000228837:F8L	ENSP00000228837:F8L	F	-	1	0	FGF6	4424976	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.502000	0.53332	0.365000	0.24400	0.459000	0.35465	TTC		0.582	FGF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398939.1	NM_020996		G	4554715	A	G	4554715	3	3	735	1	0	0	0	0	1	0	0	0	5858	43	2	3	616	3	FGF6	12	4554715	Missense_Mutation	SNP	A	TCGA-KN-8429-01A-11D-2310-10		4554715	129297180	41	42581											
DDX11	1663	mdanderson.org	37	12	31242416	31242416	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr12:31242416G>A	ENST00000407793.2	+	8	1123	c.872G>A	c.(871-873)aGc>aAc	p.S291N	DDX11_ENST00000228264.6_Missense_Mutation_p.S265N|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000350437.4_Missense_Mutation_p.S291N|DDX11_ENST00000545668.1_Missense_Mutation_p.S291N|DDX11_ENST00000542838.1_Missense_Mutation_p.S291N	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	291	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					ATGCAGAGAAGCAGGCACGGT	0.512										Multiple Myeloma(12;0.14)																																						0													36	44	42					12																	31242416		2203	4300	6503	SO:0001583	missense	1663			U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"DEAD-boxes"	2736	protein-coding gene	gene with protein product	"CHL1-like helicase homolog (S. cerevisiae)"	601150	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)", "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.872G>A	12.37:g.31242416G>A	ENSP00000384703:p.Ser291Asn		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000407793.2	37	CCDS44856.1	.	.	.	.	.	.	.	.	.	.	G	0.033	-1.321428	0.01320	.	.	ENSG00000013573	ENST00000542838;ENST00000407793;ENST00000228264;ENST00000438391;ENST00000545668;ENST00000350437	T;T;T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58;-0.58;-0.58	3.45	0.218	0.15270	DEAD2 (1);Helicase-like, DEXD box c2 type (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.418647	0.29424	N	0.012196	T	0.35508	0.0934	N	0.02357	-0.585	0.80722	D	1	B;B;B	0.12013	0.005;0.001;0.001	B;B;B	0.14023	0.01;0.003;0.004	T	0.04165	-1.0972	10	0.12103	T	0.63	.	5.4846	0.16743	0.5522:0.0:0.4478:0.0	.	291;291;291	Q96FC9;Q96FC9-4;Q96FC9-2	DDX11_HUMAN;.;.	N	291;291;265;262;291;291	ENSP00000443426:S291N;ENSP00000384703:S291N;ENSP00000228264:S265N;ENSP00000407646:S262N;ENSP00000440402:S291N;ENSP00000309965:S291N	ENSP00000228264:S265N	S	+	2	0	DDX11	31133683	1.000000	0.71417	0.242000	0.24170	0.022000	0.10575	3.115000	0.50391	0.180000	0.19960	0.505000	0.49811	AGC		0.512	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653		A	31242416	G	A	31242416	3	1	735	1	0	0	0	0	1	0	0	0	4345	971	34	2	898	2	DDX11	12	31242416	Missense_Mutation	SNP	G	TCGA-KN-8429-01A-11D-2310-10	26687701	31242416	102609479	42	42582											
RPH3A	22895	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	113333605	113333605	+	Missense_Mutation	SNP	C	C	G			TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr12:113333605C>G	ENST00000389385.4	+	21	2378	c.1881C>G	c.(1879-1881)caC>caG	p.H627Q	RPH3A_ENST00000447659.2_Missense_Mutation_p.H578Q|RPH3A_ENST00000543106.2_Missense_Mutation_p.H627Q|RPH3A_ENST00000551052.1_Missense_Mutation_p.H623Q|RPH3A_ENST00000415485.3_Missense_Mutation_p.H627Q|RPH3A_ENST00000548866.1_Missense_Mutation_p.H578Q|RPH3A_ENST00000420983.2_Missense_Mutation_p.H627Q|RPH3A_ENST00000549913.2_3'UTR	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	627	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		ACATCAAACACAGTGACCTGG	0.468																																																0													97	79	85					12																	113333605		2203	4300	6503	SO:0001583	missense	22895			AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"Synaptotagmins"	17056	protein-coding gene	gene with protein product		612159	"rabphilin 3A homolog (mouse)"			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.1881C>G	12.37:g.113333605C>G	ENSP00000374036:p.His627Gln		B7Z3C3|Q96AE0	Missense_Mutation	SNP	ENST00000389385.4	37	CCDS44979.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.466660	0.63625	.	.	ENSG00000089169	ENST00000543106;ENST00000389385;ENST00000447659;ENST00000551052;ENST00000415485;ENST00000548866;ENST00000420983;ENST00000549913	T;T;T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33	5.42	-1.8	0.07907	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);Synaptotagmin (1);	0.000000	0.64402	D	0.000007	T	0.65903	0.2736	N	0.25789	0.76	0.52099	D	0.999943	D;P;D	0.89917	1.0;0.794;0.999	D;P;D	0.74348	0.983;0.53;0.969	T	0.61574	-0.7035	10	0.29301	T	0.29	.	13.0375	0.58881	0.0:0.6808:0.0:0.3192	.	578;627;623	F8VP47;Q9Y2J0;Q9Y2J0-2	.;RP3A_HUMAN;.	Q	627;627;578;623;627;578;627;279	ENSP00000440384:H627Q;ENSP00000374036:H627Q;ENSP00000413254:H578Q;ENSP00000448297:H623Q;ENSP00000405357:H627Q;ENSP00000450347:H578Q;ENSP00000408889:H627Q	ENSP00000374036:H627Q	H	+	3	2	RPH3A	111817988	0.990000	0.36364	0.969000	0.41365	0.996000	0.88848	0.331000	0.19733	-0.114000	0.11936	-0.137000	0.14449	CAC		0.468	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405561.1	NM_014954		G	113333605	C	G	113333605	3	3	735	1	0	0	0	0	1	0	0	0	13557	477	17	4	1955	4	RPH3A	12	113333605	Missense_Mutation	SNP	C	TCGA-KN-8429-01A-11D-2310-10	82091189	113333605	20518290	43	42583											
TUBA3C	7278	mdanderson.org	37	13	19751292	19751292	+	Silent	SNP	T	T	C	rs147482964	byFrequency	TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr13:19751292T>C	ENST00000400113.3	-	4	935	c.831A>G	c.(829-831)tcA>tcG	p.S277S		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	277					'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)			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)		CCTTCTCGGCTGAGATGACCG	0.612																																																0													131	119	123					13																	19751292		2203	4300	6503	SO:0001819	synonymous_variant	7278			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.831A>G	13.37:g.19751292T>C			A6NJQ0|Q5W099|Q6PEY3|Q96F18	Silent	SNP	ENST00000400113.3	37	CCDS9284.1																																																																																				0.612	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		C	19751292	T	C	19751292	2	2	735	1	0	0	0	0	0	0	0	1	16751	1567	55	3		3	TUBA3C	13	19751292	Silent	SNP	T	TCGA-KN-8429-01A-11D-2310-10		19751292	95418586	44	42584	395	2									
TUBA3C	7278	mdanderson.org	37	13	19751301	19751301	+	Silent	SNP	C	C	T	rs140548354		TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr13:19751301C>T	ENST00000400113.3	-	4	926	c.822G>A	c.(820-822)ccG>ccA	p.P274P		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	274					'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)			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)		CTGAGATGACCGGGGCGTAGG	0.607																																																0													123	114	117					13																	19751301		2203	4300	6503	SO:0001819	synonymous_variant	7278			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.822G>A	13.37:g.19751301C>T			A6NJQ0|Q5W099|Q6PEY3|Q96F18	Silent	SNP	ENST00000400113.3	37	CCDS9284.1																																																																																				0.607	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		T	19751301	C	T	19751301	2	4	735	1	0	0	0	0	0	0	0	1	16751	639	23	1		1	TUBA3C	13	19751301	Silent	SNP	C	TCGA-KN-8429-01A-11D-2310-10	9	19751301	95418577	45	42585	395	2									
MLNR	2862	broad.mit.edu	37	13	49794805	49794805	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr13:49794805delG	ENST00000218721.1	+	1	332	c.332delG	c.(331-333)tgcfs	p.C111fs	MLNR_ENST00000398307.1_Frame_Shift_Del_p.C111fs	NM_001507.1	NP_001498.1	O43193	MTLR_HUMAN	motilin receptor	111					digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone-releasing hormone receptor activity (GO:0016520)			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		CCGCTGCTCTGCCGCCTGTCC	0.706																																																0													20	18	19					13																	49794805		2199	4298	6497	SO:0001589	frameshift_variant	2862			AF034632	CCDS9414.1	13q14-q21	2012-08-08	2004-05-27	2004-05-28	ENSG00000102539	ENSG00000102539		"GPCR / Class A : Motilin receptors"	4495	protein-coding gene	gene with protein product		602885	"G protein-coupled receptor 38"	GPR38		9441746	Standard	NM_001507		Approved		uc010tgj.2	O43193	OTTHUMG00000016909	ENST00000218721.1:c.332delG	13.37:g.49794805delG	ENSP00000218721:p.Cys111fs			Frame_Shift_Del	DEL	ENST00000218721.1	37	CCDS9414.1																																																																																				0.706	MLNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044897.1	NM_001507		-	49794805	G	-	49794805	7	5	735	1	0	1	0	1	0	0	0	0	9634	1319	46	0	334	0	MLNR	13	49794805	Frame_Shift_Del	DEL	G	TCGA-KN-8429-01A-11D-2310-10	30043504	49794805	65375073	46	42586											
DACT1	51339	mdanderson.org	37	14	59112179	59112179	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr14:59112179A>G	ENST00000335867.4	+	4	862	c.838A>G	c.(838-840)Agc>Ggc	p.S280G	DACT1_ENST00000556859.1_5'UTR|DACT1_ENST00000395153.3_Missense_Mutation_p.S243G|DACT1_ENST00000555845.1_3'UTR|DACT1_ENST00000541264.2_5'UTR			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	280					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						GGCTGTGCAGAGCCCAATGTT	0.502																																																0													144	132	136					14																	59112179		2203	4300	6503	SO:0001583	missense	51339			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.838A>G	14.37:g.59112179A>G	ENSP00000337439:p.Ser280Gly		A8MYJ2|Q86TY0	Missense_Mutation	SNP	ENST00000335867.4	37	CCDS9736.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.289521	0.80914	.	.	ENSG00000165617	ENST00000395153;ENST00000335867	T;T	0.69306	-0.39;-0.39	5.71	5.71	0.89125	.	0.101407	0.64402	D	0.000001	D	0.83184	0.5199	M	0.83603	2.65	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.996	D	0.85748	0.1341	10	0.72032	D	0.01	-21.4663	15.979	0.80091	1.0:0.0:0.0:0.0	.	243;280	A8MYJ2;Q9NYF0	.;DACT1_HUMAN	G	243;280	ENSP00000378582:S243G;ENSP00000337439:S280G	ENSP00000337439:S280G	S	+	1	0	DACT1	58181932	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.122000	0.77169	2.182000	0.69389	0.460000	0.39030	AGC		0.502	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	NM_016651		G	59112179	A	G	59112179	3	3	735	1	0	0	0	0	1	0	0	0	4224	304	11	3	852	3	DACT1	14	59112179	Missense_Mutation	SNP	A	TCGA-KN-8429-01A-11D-2310-10		59112179	48237361	47	42587											
ENTPD5	957	broad.mit.edu	37	14	74443082	74443082	+	Missense_Mutation	SNP	C	C	T	rs375628237		TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr14:74443082C>T	ENST00000334696.6	-	9	906	c.587G>A	c.(586-588)gGg>gAg	p.G196E	ENTPD5_ENST00000557325.1_Missense_Mutation_p.G196E	NM_001249.2	NP_001240.1	O75356	ENTP5_HUMAN	ectonucleoside triphosphate diphosphohydrolase 5	196					'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)		GTCCAAGGTCCCCACAGTCTC	0.542																																																0								C	GLU/GLY	2,4404	4.2+/-10.8	0,2,2201	102	87	92		587	5.5	1	14		92	0,8600		0,0,4300	no	missense	ENTPD5	NM_001249.2	98	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	196/429	74443082	2,13004	2203	4300	6503	SO:0001583	missense	957			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.587G>A	14.37:g.74443082C>T	ENSP00000335246:p.Gly196Glu		A1L4C5|Q96RX0	Missense_Mutation	SNP	ENST00000334696.6	37	CCDS9825.1	.	.	.	.	.	.	.	.	.	.	C	35	5.438026	0.96168	4.54E-4	0.0	ENSG00000187097	ENST00000557325;ENST00000334696;ENST00000553284	T;T;T	0.23552	1.9;1.9;1.9	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.66982	0.2845	H	0.96175	3.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.77392	-0.2605	10	0.87932	D	0	-3.7302	19.6556	0.95837	0.0:1.0:0.0:0.0	.	196;196	O75356;G3V4I0	ENTP5_HUMAN;.	E	196	ENSP00000451810:G196E;ENSP00000335246:G196E;ENSP00000451591:G196E	ENSP00000335246:G196E	G	-	2	0	ENTPD5	73512835	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.687000	0.74552	2.882000	0.98803	0.655000	0.94253	GGG		0.542	ENTPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412637.1	NM_001249		T	74443082	C	T	74443082	3	4	735	1	0	0	0	0	1	0	0	0	5144	623	22	2	731	2	ENTPD5	14	74443082	Missense_Mutation	SNP	C	TCGA-KN-8429-01A-11D-2310-10	15330903	74443082	32906458	48	42588											
KIAA1409	57578	broad.mit.edu;mdanderson.org;bcgsc.ca	37	14	93963546	93963546	+	Missense_Mutation	SNP	C	C	A			TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr14:93963546C>A	ENST00000393151.2	+	7	812	c.812C>A	c.(811-813)cCt>cAt	p.P271H	UNC79_ENST00000553484.1_Missense_Mutation_p.P271H|UNC79_ENST00000256339.4_Missense_Mutation_p.P94H|UNC79_ENST00000555664.1_Missense_Mutation_p.P271H			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	271					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						CAAGTGAAGCCTCCAGCTGTG	0.438																																																0													98	91	93					14																	93963546		2203	4300	6503	SO:0001583	missense	57578			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"KIAA1409"	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.812C>A	14.37:g.93963546C>A	ENSP00000376858:p.Pro271His		B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37		.	.	.	.	.	.	.	.	.	.	C	20.2	3.944488	0.73672	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.18016	2.25;2.24;2.24;2.24	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.34687	0.0906	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.01824	-1.1266	10	0.44086	T	0.13	-14.0484	19.3549	0.94408	0.0:1.0:0.0:0.0	.	271	C9JQL1	.	H	94;271;271;271;271	ENSP00000256339:P94H;ENSP00000450868:P271H;ENSP00000451360:P271H;ENSP00000376858:P271H	ENSP00000256339:P94H	P	+	2	0	KIAA1409	93033299	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.569000	0.86673	0.563000	0.77884	CCT		0.438	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		A	93963546	C	A	93963546	3	1	735	1	0	0	0	0	1	0	0	0	8232	681	24	4	295	4	KIAA1409	14	93963546	Missense_Mutation	SNP	C	TCGA-KN-8429-01A-11D-2310-10	19520464	93963546	13385994	49	42589											
EPB42	2038	broad.mit.edu	37	15	43499534	43499534	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr15:43499534A>G	ENST00000441366.2	-	9	1406	c.1181T>C	c.(1180-1182)gTg>gCg	p.V394A	EPB42_ENST00000300215.3_Missense_Mutation_p.V424A|EPB42_ENST00000540029.1_Missense_Mutation_p.V316A|EPB42_ENST00000563128.1_5'Flank	NM_000119.2|NM_001114134.1	NP_000110.2|NP_001107606.1	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	394					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)		CTTCCAGACCACACATGAGGC	0.562																																																0													111	79	90					15																	43499534		2203	4299	6502	SO:0001583	missense	2038			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.1181T>C	15.37:g.43499534A>G	ENSP00000396616:p.Val394Ala		Q4KKX0|Q4VB97	Missense_Mutation	SNP	ENST00000441366.2	37	CCDS45249.1	.	.	.	.	.	.	.	.	.	.	A	9.956	1.221440	0.22457	.	.	ENSG00000166947	ENST00000300215;ENST00000540029;ENST00000441366	T;T;T	0.54279	0.58;0.58;0.58	6.02	3.62	0.41486	.	0.538253	0.21503	N	0.073494	T	0.45337	0.1337	M	0.63208	1.945	0.28107	N	0.93115	B;B;B;B	0.20052	0.041;0.007;0.023;0.007	B;B;B;B	0.19946	0.027;0.005;0.011;0.005	T	0.39272	-0.9622	10	0.46703	T	0.11	-14.4242	5.6677	0.17704	0.7642:0.0:0.0833:0.1525	.	316;394;424;394	F5H563;B7Z4C3;P16452-2;P16452	.;.;.;EPB42_HUMAN	A	424;316;394	ENSP00000300215:V424A;ENSP00000444699:V316A;ENSP00000396616:V394A	ENSP00000300215:V424A	V	-	2	0	EPB42	41286826	0.084000	0.21492	0.995000	0.50966	0.008000	0.06430	1.606000	0.36826	2.299000	0.77371	0.528000	0.53228	GTG		0.562	EPB42-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432219.1	NM_000119		G	43499534	A	G	43499534	3	3	735	1	0	0	0	0	1	0	0	0	5160	159	6	3	914	3	EPB42	15	43499534	Missense_Mutation	SNP	A	TCGA-KN-8429-01A-11D-2310-10		43499534	59031858	50	42590											
THSD4	79875	mdanderson.org	37	15	72040774	72040774	+	Silent	SNP	C	C	T	rs1872056	byFrequency	TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr15:72040774C>T	ENST00000355327.3	+	14	2390	c.2256C>T	c.(2254-2256)tgC>tgT	p.C752C	THSD4_ENST00000357769.4_Silent_p.C392C|THSD4_ENST00000261862.6_Silent_p.C752C|THSD4_ENST00000567838.1_3'UTR			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	752	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						CGGTGCCCTGCGGCGTGGGAC	0.562													C|||	998	0.199281	0.3086	0.147	5008	,	,		19695	0.0823		0.2644	False		,,,				2504	0.1421															0								C		1281,3079		190,901,1089	121	135	130		2256	-8.4	0.6	15	dbSNP_92	130	2145,6401		312,1521,2440	no	coding-synonymous	THSD4	NM_024817.2		502,2422,3529	TT,TC,CC		25.0995,29.3807,26.5458		752/1019	72040774	3426,9480	2180	4273	6453	SO:0001819	synonymous_variant	79875			AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.2256C>T	15.37:g.72040774C>T			B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Silent	SNP	ENST00000355327.3	37	CCDS10238.2																																																																																				0.562	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257253.2	NM_024817		T	72040774	C	T	72040774	2	4	735	1	0	0	0	0	0	0	0	1	15883	776	27	1		1	THSD4	15	72040774	Silent	SNP	C	TCGA-KN-8429-01A-11D-2310-10	28541240	72040774	30490618	51	42591											
RASGRF1	5923	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	15	79324635	79324635	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr15:79324635G>A	ENST00000419573.3	-	7	1256	c.982C>T	c.(982-984)Ccc>Tcc	p.P328S	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.P328S	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	328	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				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						TTGAGCATGGGCAGCAGGATG	0.587																																																0													159	98	118					15																	79324635		2196	4293	6489	SO:0001583	missense	5923			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.982C>T	15.37:g.79324635G>A	ENSP00000405963:p.Pro328Ser		F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	ENST00000419573.3	37	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.538020	0.85917	.	.	ENSG00000058335	ENST00000419573;ENST00000394741	T	0.62232	0.04	4.35	4.35	0.52113	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.72795	0.3505	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	0.97110	1.0;1.0;1.0;1.0	T	0.75752	-0.3207	10	0.72032	D	0.01	.	14.4226	0.67193	0.0:0.0:1.0:0.0	.	328;328;328;328	A8K270;Q8IUU5;Q13972;F8VPA5	.;.;RGRF1_HUMAN;.	S	328	ENSP00000405963:P328S	ENSP00000378224:P328S	P	-	1	0	RASGRF1	77111690	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.418000	0.97395	2.258000	0.74832	0.491000	0.48974	CCC		0.587	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		A	79324635	G	A	79324635	3	1	735	1	0	0	0	0	1	0	0	0	13078	1203	42	2	2927	2	RASGRF1	15	79324635	Missense_Mutation	SNP	G	TCGA-KN-8429-01A-11D-2310-10	7283861	79324635	23206757	52	42592											
LINS1	55180	mdanderson.org	37	15	101110265	101110265	+	Silent	SNP	T	T	A	rs2411836	byFrequency	TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr15:101110265T>A	ENST00000314742.8	-	7	1674	c.1452A>T	c.(1450-1452)acA>acT	p.T484T	LINS_ENST00000559149.1_5'Flank	NM_001040616.2	NP_001035706	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	484								p.T484T(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						CATTTTCATGTGTGTGATGGT	0.353													T|||	1560	0.311502	0.2375	0.2493	5008	,	,		17495	0.246		0.4513	False		,,,				2504	0.3793															1	Substitution - coding silent(1)	stomach(1)						T		1242,3164	413.7+/-336.6	157,928,1118	56	55	55		1452	-0.9	0.8	15	dbSNP_100	55	4032,4566	526.5+/-381.0	961,2110,1228	no	coding-synonymous	LINS	NM_001040616.2		1118,3038,2346	AA,AT,TT		46.8946,28.1888,40.5568		484/758	101110265	5274,7730	2203	4299	6502	SO:0001819	synonymous_variant	55180			AK095448	CCDS10385.1	15q26.3	2010-09-08	2010-09-08	2010-09-08	ENSG00000140471	ENSG00000140471			30922	protein-coding gene	gene with protein product		610350	"lines homolog 1 (Drosophila)"	LINS1		12119551, 8889548	Standard	NM_001040616		Approved	WINS1	uc002bwg.3	Q8NG48	OTTHUMG00000149865	ENST00000314742.8:c.1452A>T	15.37:g.101110265T>A			Q96FW2|Q9NVQ3	Silent	SNP	ENST00000314742.8	37	CCDS10385.1																																																																																				0.353	LINS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313592.1	NM_018148		A	101110265	T	A	101110265	2	1	735	1	0	0	0	0	0	0	0	1	8820	1683	59	5		5	LINS1	15	101110265	Silent	SNP	T	TCGA-KN-8429-01A-11D-2310-10	21785630	101110265	1421127	53	42593											
DHX8	1659	broad.mit.edu	37	17	41585844	41585844	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr17:41585844A>G	ENST00000262415.3	+	16	2530	c.2458A>G	c.(2458-2460)Atg>Gtg	p.M820V	DHX8_ENST00000540306.1_Missense_Mutation_p.M820V	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	820	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		TCCCAGTGAGATGCAGACCCG	0.478																																					NSCLC(56;1548 1661 49258 49987)											0													115	105	109					17																	41585844		2203	4300	6503	SO:0001583	missense	1659			D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"DEAH-boxes"	2749	protein-coding gene	gene with protein product		600396	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.2458A>G	17.37:g.41585844A>G	ENSP00000262415:p.Met820Val			Missense_Mutation	SNP	ENST00000262415.3	37	CCDS11464.1	.	.	.	.	.	.	.	.	.	.	A	15.56	2.868390	0.51588	.	.	ENSG00000067596	ENST00000540306;ENST00000262415	T;T	0.74737	-0.87;-0.87	5.68	5.68	0.88126	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.63721	0.2535	N	0.12611	0.24	0.80722	D	1	P;B	0.34629	0.46;0.091	B;B	0.40329	0.279;0.326	T	0.66296	-0.5959	10	0.42905	T	0.14	.	15.0989	0.72256	1.0:0.0:0.0:0.0	.	820;820	F5H658;Q14562	.;DHX8_HUMAN	V	820	ENSP00000437886:M820V;ENSP00000262415:M820V	ENSP00000262415:M820V	M	+	1	0	DHX8	38941370	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.237000	0.95368	2.162000	0.67917	0.459000	0.35465	ATG		0.478	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453485.1			G	41585844	A	G	41585844	3	3	735	1	0	0	0	0	1	0	0	0	4517	333	12	3	2520	3	DHX8	17	41585844	Missense_Mutation	SNP	A	TCGA-KN-8429-01A-11D-2310-10		41585844	39609366	54	42594											
CRHR1	1394	hgsc.bcm.edu	37	17	43910515	43910515	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr17:43910515G>A	ENST00000398285.3	+	10	869	c.869G>A	c.(868-870)gGc>gAc	p.G290D	CRHR1_ENST00000314537.5_Missense_Mutation_p.G261D|CRHR1_ENST00000352855.5_Missense_Mutation_p.G221D|CRHR1_ENST00000577353.1_Missense_Mutation_p.G261D|CRHR1_ENST00000339069.5_Missense_Mutation_p.G160D|CRHR1_ENST00000293493.7_Missense_Mutation_p.G86D	NM_001145146.1	NP_001138618.1	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	290					activation of adenylate cyclase activity (GO:0007190)|adrenal gland development (GO:0030325)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|behavioral response to pain (GO:0048266)|cellular response to corticotropin-releasing hormone stimulus (GO:0071376)|corticotropin secretion (GO:0051458)|epithelial cell differentiation (GO:0030855)|fear response (GO:0042596)|female pregnancy (GO:0007565)|general adaptation syndrome, behavioral process (GO:0051867)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neuron death (GO:1901215)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neuropeptide signaling pathway (GO:0007218)|parturition (GO:0007567)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mast cell degranulation (GO:0043306)|regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010578)|regulation of corticosterone secretion (GO:2000852)|response to hypoxia (GO:0001666)|response to immobilization stress (GO:0035902)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|vesicle (GO:0031982)	corticotrophin-releasing factor receptor activity (GO:0015056)|corticotropin-releasing hormone binding (GO:0051424)|corticotropin-releasing hormone receptor activity (GO:0043404)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		TGCTGGTTTGGCAAAAGGCCT	0.607																																					Ovarian(110;57 1568 10207 38216 49865)											0													124	130	128					17																	43910515		1993	4160	6153	SO:0001583	missense	1394			L23332	CCDS42350.1, CCDS45712.1, CCDS45713.1, CCDS45714.1	17q12-q22	2012-08-14			ENSG00000120088	ENSG00000120088		"GPCR / Class B : Corticotropin-releasing factor receptors"	2357	protein-coding gene	gene with protein product	"corticotropin-releasing factor receptor"	122561		CRHR		7590738	Standard	NM_004382		Approved	CRF-R, CRF1	uc010dap.3	P34998		ENST00000398285.3:c.869G>A	17.37:g.43910515G>A	ENSP00000381333:p.Gly290Asp		B4DIE9|Q13008|Q4QRJ1|Q9UK64	Missense_Mutation	SNP	ENST00000398285.3	37	CCDS45712.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.130090	0.56721	.	.	ENSG00000120088	ENST00000293493;ENST00000339069;ENST00000398285;ENST00000314537;ENST00000347197;ENST00000352855	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	5.2	5.2	0.72013	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.36331	0.0963	N	0.14661	0.345	0.80722	D	1	P;B;P;P;P;P	0.47034	0.889;0.333;0.536;0.877;0.48;0.819	P;P;B;P;B;B	0.51742	0.618;0.449;0.306;0.678;0.276;0.398	T	0.06899	-1.0801	10	0.11182	T	0.66	.	16.2316	0.82347	0.0:0.0:1.0:0.0	.	261;290;160;160;221;261	P34998-4;P34998;B3TIK8;B4DMR5;P34998-3;P34998-2	.;CRFR1_HUMAN;.;.;.;.	D	86;160;290;261;261;221	ENSP00000293493:G86D;ENSP00000340522:G160D;ENSP00000381333:G290D;ENSP00000326060:G261D;ENSP00000344068:G221D	ENSP00000293493:G86D	G	+	2	0	CRHR1	41266296	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.869000	0.99810	2.427000	0.82271	0.561000	0.74099	GGC		0.607	CRHR1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000441241.3			A	43910515	G	A	43910515	3	1	735	1	0	0	0	0	1	0	0	0	3873	1203	42	2	907	2	CRHR1	17	43910515	Missense_Mutation	SNP	G	TCGA-KN-8429-01A-11D-2310-10	2324671	43910515	37284695	55	42595											
USP32	84669	mdanderson.org	37	17	58292024	58292024	+	Missense_Mutation	SNP	C	C	T	rs571048538	byFrequency	TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr17:58292024C>T	ENST00000300896.4	-	17	2173	c.1979G>A	c.(1978-1980)cGc>cAc	p.R660H	USP32_ENST00000592339.1_Missense_Mutation_p.R330H	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	660					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)			CTCTTTAATGCGCAGCCTTTG	0.408													C|||	3	0.000599042	0.0023	0.0	5008	,	,		19451	0.0		0.0	False		,,,				2504	0.0															0													41	38	39					17																	58292024		2201	4295	6496	SO:0001583	missense	84669			AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"Ubiquitin-specific peptidases", "EF-hand domain containing"	19143	protein-coding gene	gene with protein product		607740	"ubiquitin specific protease 32"			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.1979G>A	17.37:g.58292024C>T	ENSP00000300896:p.Arg660His		Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	ENST00000300896.4	37	CCDS32697.1	.	.	.	.	.	.	.	.	.	.	C	35	5.530108	0.96446	.	.	ENSG00000170832	ENST00000300896	T	0.50001	0.76	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.46073	0.1374	L	0.48642	1.525	0.80722	D	1	P	0.50617	0.937	B	0.41440	0.357	T	0.49113	-0.8973	10	0.49607	T	0.09	.	19.155	0.93506	0.0:1.0:0.0:0.0	.	660	Q8NFA0	UBP32_HUMAN	H	660	ENSP00000300896:R660H	ENSP00000300896:R660H	R	-	2	0	USP32	55646806	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.717000	0.84732	2.539000	0.85634	0.650000	0.86243	CGC		0.408	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	NM_032582		T	58292024	C	T	58292024	3	4	735	1	0	0	0	0	1	0	0	0	17068	768	27	1	2907	1	USP32	17	58292024	Missense_Mutation	SNP	C	TCGA-KN-8429-01A-11D-2310-10	14381509	58292024	22903186	56	42596											
ADCYAP1	116	mdanderson.org	37	18	907675	907675	+	Silent	SNP	G	G	A	rs8192597	byFrequency	TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr18:907675G>A	ENST00000579794.1	+	2	404	c.126G>A	c.(124-126)gcG>gcA	p.A42A	RP11-672L10.2_ENST00000580612.1_RNA|RP11-672L10.3_ENST00000582554.1_RNA|RP11-672L10.2_ENST00000581719.2_RNA|RP11-672L10.2_ENST00000577358.1_RNA|ADCYAP1_ENST00000450565.3_Silent_p.A42A	NM_001117.3	NP_001108.2	P18509	PACA_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary)	42					activation of adenylate cyclase activity (GO:0007190)|ATP metabolic process (GO:0046034)|behavioral fear response (GO:0001662)|cAMP-mediated signaling (GO:0019933)|cell-cell signaling (GO:0007267)|cellular response to glucocorticoid stimulus (GO:0071385)|female pregnancy (GO:0007565)|histamine secretion (GO:0001821)|negative regulation of acute inflammatory response to antigenic stimulus (GO:0002865)|negative regulation of acute inflammatory response to non-antigenic stimulus (GO:0002878)|negative regulation of cell cycle (GO:0045786)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of Rho GTPase activity (GO:0034259)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|pituitary gland development (GO:0021983)|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 cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of somatostatin secretion (GO:0090274)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasodilation (GO:0045909)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)|regulation of postsynaptic membrane potential (GO:0060078)|regulation of protein localization (GO:0032880)|response to ethanol (GO:0045471)|response to starvation (GO:0042594)|sensory perception of pain (GO:0019233)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|terminal bouton (GO:0043195)	neuropeptide hormone activity (GO:0005184)|peptide hormone receptor binding (GO:0051428)|pituitary adenylate cyclase activating polypeptide activity (GO:0016521)|receptor binding (GO:0005102)|receptor signaling protein activity (GO:0005057)			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						AGGAAGAGGCGTACGGCGAGG	0.726													G|||	3516	0.702077	0.5061	0.7622	5008	,	,		8604	0.8492		0.6889	False		,,,				2504	0.7863															0								G	,	2350,1996		679,992,502	9	11	11		126,126	-3.4	1	18	dbSNP_117	11	6028,2476		2167,1694,391	no	coding-synonymous,coding-synonymous	ADCYAP1	NM_001099733.1,NM_001117.3	,	2846,2686,893	AA,AG,GG		29.1157,45.9273,34.8016	,	42/177,42/177	907675	8378,4472	2173	4252	6425	SO:0001819	synonymous_variant	116			S83513	CCDS11825.1	18p11	2013-02-28			ENSG00000141433	ENSG00000141433		"Endogenous ligands"	241	protein-coding gene	gene with protein product	"prepro-PACAP"	102980				1730060	Standard	NM_001099733		Approved	PACAP	uc010dkh.4	P18509	OTTHUMG00000131479	ENST00000579794.1:c.126G>A	18.37:g.907675G>A			B2R7N4|Q52LQ0	Silent	SNP	ENST00000579794.1	37	CCDS11825.1																																																																																				0.726	ADCYAP1-003	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440765.3	NM_001117		A	907675	G	A	907675	2	1	735	1	0	0	0	0	0	0	0	1	302	1132	40	1		1	ADCYAP1	18	907675	Silent	SNP	G	TCGA-KN-8429-01A-11D-2310-10		907675	77169573	57	42597											
ANKRD30B	374860	broad.mit.edu	37	18	14837637	14837637	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr18:14837637delG	ENST00000358984.4	+	30	2773	c.2593delG	c.(2593-2595)ggafs	p.G865fs		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	865										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						ATCAGAATTAGGAAGAAAAGA	0.264																																																0													19	24	23					18																	14837637		690	1579	2269	SO:0001589	frameshift_variant	374860			BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"Ankyrin repeat domain containing"	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.2593delG	18.37:g.14837637delG	ENSP00000351875:p.Gly865fs		B4DGP1|F8WAG3|Q4G175	Frame_Shift_Del	DEL	ENST00000358984.4	37	CCDS54182.1																																																																																				0.264	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029		-	14837637	G	-	14837637	7	5	735	1	0	1	0	1	0	0	0	0	659	1001	35	0	2711	0	ANKRD30B	18	14837637	Frame_Shift_Del	DEL	G	TCGA-KN-8429-01A-11D-2310-10	13929962	14837637	63239611	58	42598											
MUC16	94025	mdanderson.org	37	19	9025604	9025604	+	Silent	SNP	A	A	G	rs200791776		TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr19:9025604A>G	ENST00000397910.4	-	15	37053	c.36850T>C	c.(36850-36852)Ttg>Ctg	p.L12284L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12286	SEA 2. {ECO:0000255|PROSITE- ProRule:PRU00188}.				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						AGCAAGGTCAATCTGCAGCCA	0.522																																																0													115	104	108					19																	9025604		1962	4161	6123	SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.36850T>C	19.37:g.9025604A>G			Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																				0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		G	9025604	A	G	9025604	2	3	735	1	0	0	0	0	0	0	0	1	9975	98	4	3		3	MUC16	19	9025604	Silent	SNP	A	TCGA-KN-8429-01A-11D-2310-10		9025604	50103379	59	42599											
ZNF653	115950	broad.mit.edu;ucsc.edu	37	19	11598244	11598244	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr19:11598244A>G	ENST00000293771.5	-	4	1170	c.1034T>C	c.(1033-1035)gTc>gCc	p.V345A	CTC-398G3.6_ENST00000585656.1_Intron	NM_138783.3	NP_620138.2	Q96CK0	ZN653_HUMAN	zinc finger protein 653	345					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)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						ACTGCCGGGGACACCGCTGCC	0.652																																					Pancreas(83;980 1446 4542 6441 43352)											0													65	55	58					19																	11598244		2203	4300	6503	SO:0001583	missense	115950			AY072704	CCDS12261.1	19p13.2	2013-01-08						"Zinc fingers, C2H2-type"	25196	protein-coding gene	gene with protein product		611371				12477932	Standard	NM_138783		Approved	Zip67	uc002mrz.2	Q96CK0		ENST00000293771.5:c.1034T>C	19.37:g.11598244A>G	ENSP00000293771:p.Val345Ala		Q96AS7	Missense_Mutation	SNP	ENST00000293771.5	37	CCDS12261.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.176622	0.00312	.	.	ENSG00000161914	ENST00000293771	T	0.10005	2.92	2.93	2.93	0.34026	.	0.686095	0.11916	N	0.517184	T	0.04227	0.0117	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43426	-0.9392	10	0.02654	T	1	-7.9695	6.1699	0.20410	0.1428:0.0:0.8572:0.0	.	345	Q96CK0	ZN653_HUMAN	A	345	ENSP00000293771:V345A	ENSP00000293771:V345A	V	-	2	0	ZNF653	11459244	0.617000	0.27043	0.586000	0.28679	0.056000	0.15407	1.002000	0.29796	0.805000	0.34159	-0.642000	0.03964	GTC		0.652	ZNF653-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458836.2	NM_138783		G	11598244	A	G	11598244	3	3	735	1	0	0	0	0	1	0	0	0	18071	275	10	3	837	3	ZNF653	19	11598244	Missense_Mutation	SNP	A	TCGA-KN-8429-01A-11D-2310-10	2572640	11598244	47530739	60	42600											
OR10H2	26538	mdanderson.org	37	19	15839047	15839047	+	Missense_Mutation	SNP	T	T	C	rs201424847	byFrequency	TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr19:15839047T>C	ENST00000305899.3	+	1	214	c.194T>C	c.(193-195)gTc>gCc	p.V65A		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	65						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					TTCCTGTGCGTCCTCTCAGTC	0.637																																																0													234	188	204					19																	15839047		2203	4300	6503	SO:0001583	missense	26538			AC004597	CCDS12333.1	19p13.1	2012-08-09				ENSG00000171942		"GPCR / Class A : Olfactory receptors"	8173	protein-coding gene	gene with protein product							Standard	NM_013939		Approved		uc002nbm.2	O60403		ENST00000305899.3:c.194T>C	19.37:g.15839047T>C	ENSP00000306095:p.Val65Ala		Q6IFQ1|Q96R58	Missense_Mutation	SNP	ENST00000305899.3	37	CCDS12333.1	.	.	.	.	.	.	.	.	.	.	.	0.151	-1.091346	0.01858	.	.	ENSG00000171942	ENST00000305899	T	0.02890	4.12	3.4	2.24	0.28232	GPCR, rhodopsin-like superfamily (1);	0.275578	0.25848	N	0.027919	T	0.01695	0.0054	N	0.17474	0.49	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.49062	-0.8978	10	0.15499	T	0.54	.	5.1985	0.15250	0.2013:0.6781:0.0:0.1206	.	65	O60403	O10H2_HUMAN	A	65	ENSP00000306095:V65A	ENSP00000306095:V65A	V	+	2	0	OR10H2	15700047	0.000000	0.05858	0.937000	0.37676	0.644000	0.38419	0.494000	0.22467	0.427000	0.26145	-0.254000	0.11334	GTC		0.637	OR10H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460917.1			C	15839047	T	C	15839047	3	2	735	1	0	0	0	0	1	0	0	0	10908	1667	58	3	196	3	OR10H2	19	15839047	Missense_Mutation	SNP	T	TCGA-KN-8429-01A-11D-2310-10	4240803	15839047	43289936	61	42601											
TMEM91	641649	broad.mit.edu	37	19	41884219	41884219	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr19:41884219A>G	ENST00000392002.2	+	2	665	c.5A>G	c.(4-6)gAc>gGc	p.D2G	TMEM91_ENST00000356385.4_Missense_Mutation_p.D2G|TMEM91_ENST00000436170.2_Missense_Mutation_p.D2G|TMEM91_ENST00000413014.2_Missense_Mutation_p.D2G|TMEM91_ENST00000542945.1_Missense_Mutation_p.D2G|TMEM91_ENST00000539627.1_Missense_Mutation_p.D2G|CTC-435M10.3_ENST00000540732.1_Missense_Mutation_p.D2G|TMEM91_ENST00000447302.2_Missense_Mutation_p.D2G|CTC-435M10.3_ENST00000604424.1_Intron|TMEM91_ENST00000544232.1_Missense_Mutation_p.D2G|TMEM91_ENST00000604123.1_Missense_Mutation_p.D59G|BCKDHA_ENST00000595085.1_Missense_Mutation_p.D2G	NM_001098821.1	NP_001092291.1	Q6ZNR0	TMM91_HUMAN	transmembrane protein 91	2					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						AAAGCCATGGACAGCCCTAGT	0.557																																																0													66	64	65					19																	41884219		1881	4112	5993	SO:0001583	missense	641649			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.5A>G	19.37:g.41884219A>G	ENSP00000375859:p.Asp2Gly		C9J9D1|C9JZ62|C9K046|Q6P434	Missense_Mutation	SNP	ENST00000392002.2	37	CCDS42571.1	.	.	.	.	.	.	.	.	.	.	A	14.53	2.563594	0.45694	.	.	ENSG00000142046;ENSG00000142046;ENSG00000142046;ENSG00000142046;ENSG00000142046;ENSG00000142046;ENSG00000142046;ENSG00000142046;ENSG00000142046;ENSG00000142046;ENSG00000255730	ENST00000539627;ENST00000413014;ENST00000392002;ENST00000436170;ENST00000447302;ENST00000544232;ENST00000542945;ENST00000537354;ENST00000342187;ENST00000356385;ENST00000540732	D;D	0.99226	-4.46;-5.59	4.44	4.44	0.53790	.	0.000000	0.41605	D	0.000858	D	0.98557	0.9518	L	0.27053	0.805	0.33346	D	0.570468	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.996;1.0;1.0	D;D;D;D;D;D;D	0.83275	0.992;0.992;0.992;0.992;0.981;0.992;0.996	D	0.99780	1.1027	10	0.87932	D	0	.	10.2932	0.43608	1.0:0.0:0.0:0.0	.	2;2;2;2;2;2;2	C9J9D1;C9JZ62;C9K046;Q6P434;F5H5P2;Q6ZNR0;F5GWC9	.;.;.;.;.;TMM91_HUMAN;.	G	2	ENSP00000375859:D2G;ENSP00000443246:D2G	ENSP00000443246:D2G	D	+	2	0	CTC-435M10.3;TMEM91	46576059	0.998000	0.40836	0.986000	0.45419	0.165000	0.22458	3.619000	0.54196	2.013000	0.59113	0.459000	0.35465	GAC		0.557	TMEM91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398302.2			G	41884219	A	G	41884219	3	3	735	1	0	0	0	0	1	0	0	0	16225	275	10	3	7	3	TMEM91	19	41884219	Missense_Mutation	SNP	A	TCGA-KN-8429-01A-11D-2310-10	26045172	41884219	17244764	62	42602											
ZNF418	147686	mdanderson.org	37	19	58439306	58439306	+	Silent	SNP	G	G	A	rs7253514	byFrequency	TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr19:58439306G>A	ENST00000396147.1	-	4	534	c.243C>T	c.(241-243)gcC>gcT	p.A81A	ZNF418_ENST00000599086.1_5'Flank|ZNF418_ENST00000595830.1_Silent_p.A81A|ZNF418_ENST00000599852.1_5'UTR|ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000425570.3_Silent_p.A102A	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	81	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)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		CACAAGAGTGGGCCTTCTTGG	0.507													G|||	1448	0.289137	0.2595	0.3573	5008	,	,		18775	0.4048		0.2545	False		,,,				2504	0.1973															0								G		1066,3340		131,804,1268	62	66	64		243	-1.5	0	19	dbSNP_116	64	2219,6381		293,1633,2374	no	coding-synonymous	ZNF418	NM_133460.1		424,2437,3642	AA,AG,GG		25.8023,24.1943,25.2576		81/677	58439306	3285,9721	2203	4300	6503	SO:0001819	synonymous_variant	147686			AB075836, AY695825	CCDS42642.1	19q13.43	2013-01-08				ENSG00000196724		"Zinc fingers, C2H2-type", "-"	20647	protein-coding gene	gene with protein product						11853319	Standard	NM_133460		Approved	KIAA1956, FLJ31551	uc002qqs.1	Q8TF45		ENST00000396147.1:c.243C>T	19.37:g.58439306G>A			Q2M1S2|Q670L5|Q96N18	Silent	SNP	ENST00000396147.1	37	CCDS42642.1																																																																																				0.507	ZNF418-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466693.1	NM_133460		A	58439306	G	A	58439306	2	1	735	1	0	0	0	0	0	0	0	1	17900	1219	43	2		2	ZNF418	19	58439306	Silent	SNP	G	TCGA-KN-8429-01A-11D-2310-10	16555087	58439306	689677	63	42603											
MN1	4330	hgsc.bcm.edu	37	22	28194900	28194900	+	Silent	SNP	T	T	C	rs202212250|rs530519178	byFrequency	TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr22:28194900T>C	ENST00000302326.4	-	1	2586	c.1632A>G	c.(1630-1632)caA>caG	p.Q544Q		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						gctgctgctgttgctgttgct	0.647			T	ETV6	"AML, meningioma"								C|||	5	0.000998403	0.0023	0.0	5008	,	,		12597	0.0		0.0	False		,,,				2504	0.002						Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"L, O"	0																																										SO:0001819	synonymous_variant	4330			X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"probable tumor suppressor protein MN1"	156100	"meningioma chromosome region"	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.1632A>G	22.37:g.28194900T>C			A9Z1V9	Silent	SNP	ENST00000302326.4	37	CCDS42998.1																																																																																				0.647	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		C	28194900	T	C	28194900	2	2	735	1	0	0	0	0	0	0	0	1	9675	1722	60	3		3	MN1	22	28194900	Silent	SNP	T	TCGA-KN-8429-01A-11D-2310-10		28194900	23109666	64	42604			1	97		3	3	28	N	T_C	1.500171e-09
MN1	4330	mdanderson.org	37	22	28194912	28194912	+	Silent	SNP	T	T	C			TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr22:28194912T>C	ENST00000302326.4	-	1	2574	c.1620A>G	c.(1618-1620)caA>caG	p.Q540Q		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	540	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						gctgttgctgttgctgctgct	0.657			T	ETV6	"AML, meningioma"																																		Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"L, O"	0													4	5	5					22																	28194912		1941	3935	5876	SO:0001819	synonymous_variant	4330			X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"probable tumor suppressor protein MN1"	156100	"meningioma chromosome region"	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.1620A>G	22.37:g.28194912T>C			A9Z1V9	Silent	SNP	ENST00000302326.4	37	CCDS42998.1																																																																																				0.657	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		C	28194912	T	C	28194912	2	2	735	1	0	0	0	0	0	0	0	1	9675	1722	60	3		3	MN1	22	28194912	Silent	SNP	T	TCGA-KN-8429-01A-11D-2310-10	12	28194912	23109654	65	42605			1	97		3	3	28	N	T_C	1.500171e-09
MN1	4330	mdanderson.org	37	22	28194927	28194927	+	Silent	SNP	C	C	T	rs570740760	byFrequency	TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr22:28194927C>T	ENST00000302326.4	-	1	2559	c.1605G>A	c.(1603-1605)caG>caA	p.Q535Q		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	535	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						gctgctgctgctgctgttgct	0.647			T	ETV6	"AML, meningioma"								C|||	8	0.00159744	0.0008	0.0043	5008	,	,		12376	0.001		0.002	False		,,,				2504	0.001						Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"L, O"	0																																										SO:0001819	synonymous_variant	4330			X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"probable tumor suppressor protein MN1"	156100	"meningioma chromosome region"	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.1605G>A	22.37:g.28194927C>T			A9Z1V9	Silent	SNP	ENST00000302326.4	37	CCDS42998.1																																																																																				0.647	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		T	28194927	C	T	28194927	2	4	735	1	0	0	0	0	0	0	0	1	9675	796	28	2		2	MN1	22	28194927	Silent	SNP	C	TCGA-KN-8429-01A-11D-2310-10	15	28194927	23109639	66	42606			1	97		3	3	28	N	T_C	1.500171e-09
PLXNB3	5365	bcgsc.ca	37	X	153035378	153035378	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chrX:153035378G>A	ENST00000361971.5	+	7	1727	c.1613G>A	c.(1612-1614)cGc>cAc	p.R538H	PLXNB3_ENST00000538776.1_Missense_Mutation_p.R191H|PLXNB3_ENST00000538543.1_Missense_Mutation_p.R88H|PLXNB3_ENST00000538966.1_Missense_Mutation_p.R561H|PLXNB3_ENST00000538282.1_Missense_Mutation_p.R148H	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	538					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)					CACCACCCCCGCCAGGAGCAG	0.687																																																0													17	19	18					X																	153035378		2188	4287	6475	SO:0001583	missense	5365			AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"Plexins"	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.1613G>A	X.37:g.153035378G>A	ENSP00000355378:p.Arg538His		B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	ENST00000361971.5	37	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.395171	0.83011	.	.	ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776;ENST00000538543;ENST00000538282	T;T;T;T;T	0.69926	5.11;5.08;4.53;1.71;-0.44	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	T	0.81692	0.4876	M	0.87381	2.88	0.36655	D	0.87762	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.83275	0.991;0.991;0.967;0.996;0.991	D	0.83398	0.0021	10	0.15066	T	0.55	.	14.1448	0.65344	0.0:0.0:1.0:0.0	.	191;220;88;561;538	B7Z3H9;B7Z9A5;F5GZZ4;F5H773;Q9ULL4	.;.;.;.;PLXB3_HUMAN	H	561;538;191;88;148	ENSP00000442736:R561H;ENSP00000355378:R538H;ENSP00000445569:R191H;ENSP00000444086:R88H;ENSP00000441919:R148H	ENSP00000355378:R538H	R	+	2	0	PLXNB3	152688572	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	3.241000	0.51376	1.910000	0.55303	0.600000	0.82982	CGC		0.687	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			A	153035378	G	A	153035378	3	1	735	1	0	0	0	0	1	0	0	0	12127	1087	38	1	1753	1	PLXNB3	23	153035378	Missense_Mutation	SNP	G	TCGA-KN-8429-01A-11D-2310-10		153035378	2235182	67	42607											
ARHGEF19	128272	broad.mit.edu	37	1	16525737	16525737	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr1:16525737A>G	ENST00000270747.3	-	15	2295	c.2159T>C	c.(2158-2160)gTt>gCt	p.V720A	ARHGEF19-AS1_ENST00000457809.1_RNA|ARHGEF19_ENST00000478117.1_5'UTR	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	720	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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)		AACACACTGAACCTGGGGGCA	0.607																																																0													103	87	92					1																	16525737		2203	4300	6503	SO:0001583	missense	128272			BC012982	CCDS170.1	1p36.13	2011-11-16			ENSG00000142632	ENSG00000142632		"Rho guanine nucleotide exchange factors"	26604	protein-coding gene	gene with protein product		612496				12477932	Standard	NM_153213		Approved	FLJ33962, WGEF	uc001ayc.1	Q8IW93	OTTHUMG00000002219	ENST00000270747.3:c.2159T>C	1.37:g.16525737A>G	ENSP00000270747:p.Val720Ala		A6NJ04|Q5TEV2|Q6PJQ4|Q8N244	Missense_Mutation	SNP	ENST00000270747.3	37	CCDS170.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.123998	0.77436	.	.	ENSG00000142632	ENST00000270747	T	0.30182	1.54	4.57	4.57	0.56435	Src homology-3 domain (3);	0.000000	0.56097	D	0.000025	T	0.42562	0.1208	L	0.39326	1.205	0.80722	D	1	D	0.59767	0.986	D	0.64877	0.93	T	0.27123	-1.0083	10	0.51188	T	0.08	.	11.9367	0.52878	1.0:0.0:0.0:0.0	.	720	Q8IW93	ARHGJ_HUMAN	A	720	ENSP00000270747:V720A	ENSP00000270747:V720A	V	-	2	0	ARHGEF19	16398324	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	8.037000	0.88933	1.939000	0.56221	0.459000	0.35465	GTT		0.607	ARHGEF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006289.1	NM_153213		G	16525737	A	G	16525737	3	3	736	1	0	0	0	0	1	0	0	0	902	43	2	3	257	3	ARHGEF19	1	16525737	Missense_Mutation	SNP	A	TCGA-KN-8430-01A-11D-2310-10		16525737	232724884	1	42608											
RCAN3	11123	hgsc.bcm.edu;bcgsc.ca	37	1	24861635	24861635	+	Silent	SNP	T	T	C			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr1:24861635T>C	ENST00000374395.4	+	5	907	c.594T>C	c.(592-594)gtT>gtC	p.V198V	RCAN3_ENST00000374393.2_Missense_Mutation_p.F83S|RCAN3_ENST00000436717.2_Silent_p.V188V|RCAN3_ENST00000538532.1_Silent_p.V140V|RCAN3_ENST00000412742.2_Missense_Mutation_p.F141S	NM_001251978.1|NM_001251979.1|NM_001251984.1	NP_001238907.1|NP_001238908.1|NP_001238913.1	Q9UKA8	RCAN3_HUMAN	RCAN family member 3	198					anatomical structure morphogenesis (GO:0009653)|calcium-mediated signaling (GO:0019722)		RNA binding (GO:0003723)|troponin I binding (GO:0031013)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)	7		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14)		GCGTGGTGGTTCATGTCTGTG	0.498																																																0													47	49	48					1																	24861635		2203	4300	6503	SO:0001819	synonymous_variant	11123				CCDS254.1, CCDS57980.1, CCDS57981.1, CCDS57982.1, CCDS72730.1	1p35.3-p33	2008-02-05	2007-06-26	2007-06-26	ENSG00000117602	ENSG00000117602			3042	protein-coding gene	gene with protein product		605860	"Down syndrome critical region gene 1-like 2"	DSCR1L2		10756093	Standard	NM_001251984		Approved		uc001bjj.3	Q9UKA8	OTTHUMG00000003298	ENST00000374395.4:c.594T>C	1.37:g.24861635T>C			A4GU14|A4LA69|E3VWE2|E5L4P0|E5L4P7|E7ENV1|E7EWD8|G1FI66|G1FLF0|Q5ECL3|Q5TGC6|Q9NUC8|Q9UKA7	Missense_Mutation	SNP	ENST00000374395.4	37	CCDS254.1	.	.	.	.	.	.	.	.	.	.	T	16.58	3.162723	0.57368	.	.	ENSG00000117602	ENST00000412742;ENST00000374393	.	.	.	5.45	-10.9	0.00192	.	.	.	.	.	T	0.34164	0.0888	.	.	.	0.19300	N	0.999973	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.42258	-0.9462	7	0.87932	D	0	-33.0566	15.3457	0.74334	0.0:0.2117:0.6205:0.1677	.	83;141	E7EWD8;E7ENV1	.;.	S	141;83	.	ENSP00000363514:F83S	F	+	2	0	RCAN3	24734222	0.074000	0.21230	0.212000	0.23672	0.975000	0.68041	-0.717000	0.04986	-1.894000	0.01105	-0.435000	0.05868	TTC		0.498	RCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009176.2			C	24861635	T	C	24861635	2	2	736	1	0	0	0	0	0	0	0	1	13176	1770	62	3		3	RCAN3	1	24861635	Silent	SNP	T	TCGA-KN-8430-01A-11D-2310-10	8335898	24861635	224388986	2	42609											
CELSR2	1952	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	109805471	109805471	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr1:109805471G>T	ENST00000271332.3	+	7	4649	c.4588G>T	c.(4588-4590)Gac>Tac	p.D1530Y		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1530	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)		CGGGGTGCCTGACCTGCCCGA	0.642																																					NSCLC(158;1285 2011 34800 34852 42084)											0													55	57	56					1																	109805471		2202	4300	6502	SO:0001583	missense	1952			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3231	protein-coding gene	gene with protein product		604265	"cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.4588G>T	1.37:g.109805471G>T	ENSP00000271332:p.Asp1530Tyr		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	CCDS796.1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.403315	0.62288	.	.	ENSG00000143126	ENST00000271332	T	0.81415	-1.49	4.6	3.65	0.41850	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.79534	0.4462	M	0.62088	1.915	0.38754	D	0.954164	D	0.64830	0.994	D	0.64410	0.925	T	0.80618	-0.1302	9	0.59425	D	0.04	.	5.235	0.15441	0.168:0.0:0.6532:0.1788	.	1530	Q9HCU4	CELR2_HUMAN	Y	1530	ENSP00000271332:D1530Y	ENSP00000271332:D1530Y	D	+	1	0	CELSR2	109606994	0.999000	0.42202	0.933000	0.37362	0.852000	0.48524	3.366000	0.52343	1.221000	0.43506	0.561000	0.74099	GAC		0.642	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		T	109805471	G	T	109805471	3	4	736	1	0	0	0	0	1	0	0	0	3224	1290	45	4	4614	4	CELSR2	1	109805471	Missense_Mutation	SNP	G	TCGA-KN-8430-01A-11D-2310-10	84943836	109805471	139445150	3	42610											
NBPF16	284565	ucsc.edu	37	1	148756448	148756448	+	Missense_Mutation	SNP	G	G	A	rs201036679	byFrequency	TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr1:148756448G>A	ENST00000417839.1	+	16	1967	c.1777G>A	c.(1777-1779)Ggc>Agc	p.G593S		NM_001102663.1	NP_001096133	Q5SXJ2	NBPFG_HUMAN		593	NBPF 6. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4	all_hematologic(923;0.032)					CAGGCTCAACGGCGTGCTGAT	0.443													.|||	2359	0.471046	0.441	0.4942	5008	,	,		13733	0.4782		0.493	False		,,,				2504	0.4652															0													19	14	16					1																	148756448		1538	3069	4607	SO:0001583	missense	728936																														ENST00000417839.1:c.1777G>A	1.37:g.148756448G>A	ENSP00000395369:p.Gly593Ser		A8MPT6	Missense_Mutation	SNP	ENST00000417839.1	37	CCDS41384.1	.	.	.	.	.	.	.	.	.	.	a	0.032	-1.326930	0.01309	.	.	ENSG00000203827	ENST00000417839;ENST00000254372	T	0.06218	3.33	0.109	-0.218	0.13142	DUF1220 (2);	.	.	.	.	T	0.00754	0.0025	N	0.21448	0.665	0.09310	N	1	P;B	0.40211	0.707;0.002	B;B	0.30855	0.121;0.006	T	0.45011	-0.9290	8	0.19147	T	0.46	.	.	.	.	.	593;403	Q5SXJ2;B4DRP3	NBPFG_HUMAN;.	S	593	ENSP00000395369:G593S	ENSP00000254372:G593S	G	+	1	0	NBPF16	147023072	0.998000	0.40836	0.068000	0.19968	0.069000	0.16628	0.720000	0.25896	-1.122000	0.02945	-1.109000	0.02080	GGC		0.443	NBPF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097693.1			A	148756448	G	A	148756448	3	1	736	1	0	0	0	0	1	0	0	0	10198	1116	39	1	3908	1	NBPF16	1	148756448	Missense_Mutation	SNP	G	TCGA-KN-8430-01A-11D-2310-10	38950977	148756448	100494173	4	42611											
CENPF	1063	broad.mit.edu	37	1	214815136	214815136	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr1:214815136A>G	ENST00000366955.3	+	12	3623	c.3455A>G	c.(3454-3456)gAg>gGg	p.E1152G		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0					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)		TTATTACAAGAGAATGAACAG	0.343																																					Colon(80;575 1284 11000 14801 43496)											0													62	64	63					1																	214815136		2203	4300	6503	SO:0001583	missense	1063			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"mitosin"	600236	"centromere protein F, 350/400kDa (mitosin)"			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.3455A>G	1.37:g.214815136A>G	ENSP00000355922:p.Glu1152Gly		Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	A	11.28	1.593293	0.28357	.	.	ENSG00000117724	ENST00000366955	T	0.05382	3.45	5.01	5.01	0.66863	.	0.000000	0.38436	N	0.001682	T	0.08670	0.0215	.	.	.	0.41890	D	0.990365	P	0.48503	0.911	P	0.45406	0.479	T	0.14559	-1.0468	9	0.40728	T	0.16	.	9.8173	0.40860	0.9189:0.0:0.0811:0.0	.	1152	P49454	CENPF_HUMAN	G	1152	ENSP00000355922:E1152G	ENSP00000355922:E1152G	E	+	2	0	CENPF	212881759	1.000000	0.71417	0.946000	0.38457	0.294000	0.27393	4.975000	0.63777	2.011000	0.59026	0.496000	0.49642	GAG		0.343	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		G	214815136	A	G	214815136	3	3	736	1	0	0	0	0	1	0	0	0	3233	304	11	3	3497	3	CENPF	1	214815136	Missense_Mutation	SNP	A	TCGA-KN-8430-01A-11D-2310-10	66058688	214815136	34435485	5	42612											
ALLC	55821	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	2	3743874	3743874	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr2:3743874G>A	ENST00000252505.3	+	9	839	c.677G>A	c.(676-678)gGg>gAg	p.G226E	ALLC_ENST00000471711.1_3'UTR	NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	245					allantoin catabolic process (GO:0000256)		allantoicase activity (GO:0004037)			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		GGAGTTGGCGGGGCAAAGTCT	0.363										HNSCC(21;0.051)																																						0													87	82	84					2																	3743874		1850	4109	5959	SO:0001583	missense	55821			AF215924	CCDS46223.1	2p25.3	2008-02-05			ENSG00000151360	ENSG00000151360			17377	protein-coding gene	gene with protein product		612396				11054555	Standard	NM_018436		Approved	ALC	uc010ewt.3	Q8N6M5	OTTHUMG00000151485	ENST00000252505.3:c.677G>A	2.37:g.3743874G>A	ENSP00000252505:p.Gly226Glu		Q53T95|Q5RL81|Q96RE6|Q9NZA7	Missense_Mutation	SNP	ENST00000252505.3	37	CCDS46223.1	.	.	.	.	.	.	.	.	.	.	G	11.39	1.625012	0.28889	.	.	ENSG00000151360	ENST00000252505	.	.	.	5.66	-9.89	0.00464	Allantoicase domain (1);Galactose-binding domain-like (1);	2.153630	0.01366	N	0.012415	T	0.07999	0.0200	N	0.00661	-1.28	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36625	-0.9740	9	0.51188	T	0.08	-16.7355	4.9664	0.14093	0.1423:0.2747:0.492:0.091	.	245	Q8N6M5	ALLC_HUMAN	E	226	.	ENSP00000252505:G226E	G	+	2	0	ALLC	3721749	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-0.294000	0.08309	-1.949000	0.01031	-0.345000	0.07892	GGG		0.363	ALLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322855.1			A	3743874	G	A	3743874	3	1	736	1	0	0	0	0	1	0	0	0	534	1232	43	2	707	2	ALLC	2	3743874	Missense_Mutation	SNP	G	TCGA-KN-8430-01A-11D-2310-10		3743874	239455499	6	42613											
LIPT1	51601	broad.mit.edu	37	2	99778524	99778524	+	Missense_Mutation	SNP	A	A	T			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr2:99778524A>T	ENST00000393473.2	+	3	328	c.104A>T	c.(103-105)cAg>cTg	p.Q35L	LIPT1_ENST00000393477.3_Missense_Mutation_p.Q35L|LIPT1_ENST00000340066.1_Missense_Mutation_p.Q35L|LIPT1_ENST00000393471.2_Missense_Mutation_p.Q35L|LIPT1_ENST00000393474.3_Missense_Mutation_p.Q35L|MRPL30_ENST00000410042.1_Intron	NM_001204830.1|NM_015929.3	NP_001191759.1|NP_057013.1	Q9Y234	LIPT_HUMAN	lipoyltransferase 1	35					cellular protein modification process (GO:0006464)|lipid metabolic process (GO:0006629)|protein lipoylation (GO:0009249)	mitochondrion (GO:0005739)	transferase activity, transferring acyl groups (GO:0016746)			large_intestine(6)|lung(1)	7					Lipoic Acid(DB00166)	CTCATTTTACAGTCAATTTCC	0.383																																					GBM(84;665 1268 21657 25485 30647)											0													95	91	93					2																	99778524		2203	4300	6503	SO:0001583	missense	51601			AB017566	CCDS2039.1	2q11.2	2010-11-25			ENSG00000144182	ENSG00000144182	2.3.1.181		29569	protein-coding gene	gene with protein product		610284				10103005	Standard	NM_145197		Approved	MGC12290, MGC13378	uc002szq.4	Q9Y234	OTTHUMG00000130640	ENST00000393473.2:c.104A>T	2.37:g.99778524A>T	ENSP00000377115:p.Gln35Leu		Q4ZFZ1	Missense_Mutation	SNP	ENST00000393473.2	37	CCDS2039.1	.	.	.	.	.	.	.	.	.	.	A	6.644	0.487261	0.12641	.	.	ENSG00000144182	ENST00000393473;ENST00000393477;ENST00000393474;ENST00000340066;ENST00000393471;ENST00000449211;ENST00000434566;ENST00000415142;ENST00000436234	.	.	.	5.06	5.06	0.68205	.	0.259619	0.38663	N	0.001611	T	0.41213	0.1149	N	0.20986	0.625	0.80722	D	1	B	0.15930	0.015	B	0.13407	0.009	T	0.27905	-1.0060	9	0.10111	T	0.7	-21.4158	14.1412	0.65320	1.0:0.0:0.0:0.0	.	35	Q9Y234	LIPT_HUMAN	L	35	.	ENSP00000342071:Q35L	Q	+	2	0	LIPT1	99144956	1.000000	0.71417	0.998000	0.56505	0.145000	0.21501	3.555000	0.53727	2.123000	0.65237	0.533000	0.62120	CAG		0.383	LIPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253128.1	NM_015929		T	99778524	A	T	99778524	3	4	736	1	0	0	0	0	1	0	0	0	8831	188	7	5	106	5	LIPT1	2	99778524	Missense_Mutation	SNP	A	TCGA-KN-8430-01A-11D-2310-10	96034650	99778524	143420849	7	42614											
GPR148	344561	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	2	131486934	131486934	+	Silent	SNP	G	G	A			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr2:131486934G>A	ENST00000309926.4	+	1	292	c.210G>A	c.(208-210)ctG>ctA	p.L70L		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	70						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					GCCCCCTGCTGCTGGTGACCA	0.632																																																0													55	54	54					2																	131486934		2203	4300	6503	SO:0001819	synonymous_variant	344561			AY255532	CCDS2163.1	2q21.2	2012-08-21			ENSG00000173302	ENSG00000173302		"GPCR / Class A : Orphans"	23623	protein-coding gene	gene with protein product						12679517	Standard	NM_207364		Approved	PGR6	uc002trv.2	Q8TDV2	OTTHUMG00000131655	ENST00000309926.4:c.210G>A	2.37:g.131486934G>A			Q2M369|Q86SP7|Q86U87	Silent	SNP	ENST00000309926.4	37	CCDS2163.1																																																																																				0.632	GPR148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254552.3	XM_293092		A	131486934	G	A	131486934	2	1	736	1	0	0	0	0	0	0	0	1	6655	1306	46	2		2	GPR148	2	131486934	Silent	SNP	G	TCGA-KN-8430-01A-11D-2310-10	31708410	131486934	111712439	8	42615											
LCT	3938	broad.mit.edu;mdanderson.org	37	2	136558375	136558375	+	Silent	SNP	G	G	A			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr2:136558375G>A	ENST00000264162.2	-	12	4678	c.4668C>T	c.(4666-4668)gtC>gtT	p.V1556V		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1556	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)	GCCTATTGGAGACTCCTGGAA	0.507																																																0													54	50	51					2																	136558375		2203	4300	6503	SO:0001819	synonymous_variant	3938			X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.4668C>T	2.37:g.136558375G>A			Q4ZG58	Silent	SNP	ENST00000264162.2	37	CCDS2178.1																																																																																				0.507	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		A	136558375	G	A	136558375	2	1	736	1	0	0	0	0	0	0	0	1	8695	929	33	2		2	LCT	2	136558375	Silent	SNP	G	TCGA-KN-8430-01A-11D-2310-10	5071441	136558375	106640998	9	42616											
GAD1	2571	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	2	171709233	171709233	+	Silent	SNP	A	A	C			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr2:171709233A>C	ENST00000358196.3	+	13	1744	c.1194A>C	c.(1192-1194)tcA>tcC	p.S398S		NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	398					gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate catabolic process (GO:0006538)|glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|protein-pyridoxal-5-phosphate linkage (GO:0018352)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						GGGCCAACTCAGTCACCTGGA	0.507																																																0													171	134	147					2																	171709233		2203	4300	6503	SO:0001819	synonymous_variant	2571				CCDS2239.1, CCDS2240.1	2q31	2008-02-05	2002-08-29		ENSG00000128683	ENSG00000128683	4.1.1.15		4092	protein-coding gene	gene with protein product		605363	"glutamate decarboxylase 1 (brain, 67kD)"	GAD		1549570	Standard	XM_005246443		Approved		uc002ugi.3	Q99259	OTTHUMG00000044175	ENST00000358196.3:c.1194A>C	2.37:g.171709233A>C			Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Silent	SNP	ENST00000358196.3	37	CCDS2239.1																																																																																				0.507	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102664.2			C	171709233	A	C	171709233	2	2	736	1	0	0	0	0	0	0	0	1	6181	175	7	5		5	GAD1	2	171709233	Silent	SNP	A	TCGA-KN-8430-01A-11D-2310-10	35150858	171709233	71490140	10	42617											
TTN	7273	broad.mit.edu	37	2	179426292	179426292	+	Silent	SNP	A	A	G			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr2:179426292A>G	ENST00000591111.1	-	276	79868	c.79644T>C	c.(79642-79644)taT>taC	p.Y26548Y	TTN_ENST00000589042.1_Silent_p.Y28189Y|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Silent_p.Y19249Y|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Silent_p.Y19124Y|TTN_ENST00000342175.6_Silent_p.Y19316Y|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Silent_p.Y25621Y			Q8WZ42	TITIN_HUMAN	titin	26548	Fibronectin type-III 93. {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)			ACTCAAGATGATAGCCAATTA	0.418																																																0													87	80	83					2																	179426292		1902	4113	6015	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.79644T>C	2.37:g.179426292A>G			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		G	179426292	A	G	179426292	2	3	736	1	0	0	0	0	0	0	0	1	16740	340	12	3		3	TTN	2	179426292	Silent	SNP	A	TCGA-KN-8430-01A-11D-2310-10	7717059	179426292	63773081	11	42618											
FANCD2	2177	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	3	10107113	10107113	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr3:10107113G>A	ENST00000419585.1	+	24	2365	c.2204G>A	c.(2203-2205)cGg>cAg	p.R735Q	FANCD2_ENST00000383806.1_Missense_Mutation_p.R735Q|FANCD2_ENST00000287647.3_Missense_Mutation_p.R735Q|FANCD2_ENST00000383807.1_Missense_Mutation_p.R735Q			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	735					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)		CCGTATTTCCGGTTACTGAGA	0.443			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													yes	Rec		Fanconi anaemia D2	3	3p26	2177	"Fanconi anemia, complementation group D2"		L	0													169	166	167					3																	10107113		2203	4300	6503	SO:0001583	missense	2177	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"Fanconi anemia, complementation groups"	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.2204G>A	3.37:g.10107113G>A	ENSP00000398754:p.Arg735Gln		Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	ENST00000419585.1	37	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	G	31	5.080597	0.94050	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	T;T;T;T	0.60424	0.19;0.19;0.19;0.19	5.29	4.4	0.53042	.	0.000000	0.85682	D	0.000000	T	0.73636	0.3612	M	0.72576	2.205	0.42130	D	0.991465	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.76953	-0.2768	10	0.72032	D	0.01	.	13.0316	0.58845	0.0:0.0:0.8374:0.1626	.	735;735	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	Q	735	ENSP00000287647:R735Q;ENSP00000373318:R735Q;ENSP00000373317:R735Q;ENSP00000398754:R735Q	ENSP00000287647:R735Q	R	+	2	0	FANCD2	10082113	1.000000	0.71417	0.998000	0.56505	0.949000	0.60115	9.152000	0.94680	1.227000	0.43598	0.585000	0.79938	CGG		0.443	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1			A	10107113	G	A	10107113	3	1	736	1	0	0	0	0	1	0	0	0	5667	1116	39	1	2294	1	FANCD2	3	10107113	Missense_Mutation	SNP	G	TCGA-KN-8430-01A-11D-2310-10		10107113	187915317	12	42619											
C3orf20	84077	broad.mit.edu;hgsc.bcm.edu	37	3	14724245	14724246	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr3:14724245_14724246insA	ENST00000253697.3	+	3	477_478	c.25_26insA	c.(25-27)gaafs	p.E9fs	C3orf20_ENST00000435614.1_Intron|C3orf20_ENST00000412910.1_Intron	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	9						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						GAGTAACCTAGAATTATATCAG	0.48																																																0																																										SO:0001589	frameshift_variant	84077			AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.27dupA	3.37:g.14724247_14724247dupA	ENSP00000253697:p.Glu9fs		Q7L0U6|Q8NCP2|Q9H0I7	Frame_Shift_Ins	INS	ENST00000253697.3	37	CCDS33706.1																																																																																				0.48	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340586.1	NM_032137		A	14724246	-	A	14724245	7	5	736	1	0	1	1	0	0	0	0	0	2215	943	33	0	27	0	C3orf20	3	14724245	Frame_Shift_Ins	INS	-	TCGA-KN-8430-01A-11D-2310-10	4617132	14724245	183298185	13	42620	396	2									
C3orf20	84077	bcgsc.ca	37	3	14724246	14724247	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr3:14724246_14724247insA	ENST00000253697.3	+	3	478_479	c.26_27insA	c.(25-30)gaattafs	p.L10fs	C3orf20_ENST00000435614.1_Intron|C3orf20_ENST00000412910.1_Intron	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	10						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						AGTAACCTAGAATTATATCAGC	0.48																																																0																																										SO:0001589	frameshift_variant	84077			AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.27dupA	3.37:g.14724247_14724247dupA	ENSP00000253697:p.Leu10fs		Q7L0U6|Q8NCP2|Q9H0I7	Frame_Shift_Ins	INS	ENST00000253697.3	37	CCDS33706.1																																																																																				0.48	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340586.1	NM_032137		A	14724247	-	A	14724246	7	5	736	1	0	1	1	0	0	0	0	0	2215	246	9	0	28	0	C3orf20	3	14724246	Frame_Shift_Ins	INS	-	TCGA-KN-8430-01A-11D-2310-10	1	14724246	183298184	14	42621	396	2									
DAZL	1618	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	3	16630168	16630168	+	Nonstop_Mutation	SNP	C	C	G			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr3:16630168C>G	ENST00000399444.2	-	11	1180	c.887G>C	c.(886-888)tGa>tCa	p.*296S	DAZL_ENST00000250863.8_Nonstop_Mutation_p.*316S	NM_001351.3	NP_001342.2	Q92904	DAZL_HUMAN	deleted in azoospermia-like	0					female meiosis II (GO:0007147)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|oocyte maturation (GO:0001556)|positive regulation of meiosis (GO:0045836)|positive regulation of translational initiation (GO:0045948)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|translation activator activity (GO:0008494)		RAF1/DAZL(2)	endometrium(1)|large_intestine(3)|lung(4)|prostate(3)	11						CCAGGAGGATCAAACAGATTT	0.338																																																0													182	177	179					3																	16630168		1823	4083	5906	SO:0001578	stop_lost	1618			BC027595	CCDS43059.1, CCDS54556.1	3p24	2013-02-12			ENSG00000092345	ENSG00000092345		"RNA binding motif (RRM) containing"	2685	protein-coding gene	gene with protein product		601486		DAZLA		8896558	Standard	NM_001351		Approved	DAZH, SPGYLA, MGC26406, DAZL1	uc003cbb.3	Q92904	OTTHUMG00000157050	ENST00000399444.2:c.887G>C	3.37:g.16630168C>G			O15396|Q5HYB4|Q92909	Missense_Mutation	SNP	ENST00000399444.2	37	CCDS43059.1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.915762	0.33815	.	.	ENSG00000092345	ENST00000250863;ENST00000399444	.	.	.	5.47	4.59	0.56863	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.6359	0.51202	0.0:0.9173:0.0:0.0827	.	.	.	.	S	316;296	.	.	X	-	2	2	DAZL	16605172	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	1.683000	0.37638	2.560000	0.86352	0.655000	0.94253	TGA		0.338	DAZL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347261.2	NM_001351		G	16630168	C	G	16630168	4	3	736	1	0	0	0	0	0	0	0	0	4248	837	29	4	4	4	DAZL	3	16630168	Nonstop_Mutation	SNP	C	TCGA-KN-8430-01A-11D-2310-10	1905922	16630168	181392262	15	42622											
DAZL	1618	hgsc.bcm.edu;mdanderson.org	37	3	16630220	16630221	+	Splice_Site	DNP	CC	CC	TT			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	CC	CC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr3:16630220_16630221CC>TT	ENST00000399444.2	-	11	1128	c.835_835GG>AA	c.(835-837)GGga>AAgga	p.G279K	DAZL_ENST00000250863.8_Splice_Site_p.G299K	NM_001351.3	NP_001342.2	Q92904	DAZL_HUMAN	deleted in azoospermia-like	279					female meiosis II (GO:0007147)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|oocyte maturation (GO:0001556)|positive regulation of meiosis (GO:0045836)|positive regulation of translational initiation (GO:0045948)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|translation activator activity (GO:0008494)		RAF1/DAZL(2)	endometrium(1)|large_intestine(3)|lung(4)|prostate(3)	11						ACTCTTTTATCCTGGAAAAGAC	0.342																																																0																																										SO:0001630	splice_region_variant	1618			BC027595	CCDS43059.1, CCDS54556.1	3p24	2013-02-12			ENSG00000092345	ENSG00000092345		"RNA binding motif (RRM) containing"	2685	protein-coding gene	gene with protein product		601486		DAZLA		8896558	Standard	NM_001351		Approved	DAZH, SPGYLA, MGC26406, DAZL1	uc003cbb.3	Q92904	OTTHUMG00000157050	ENST00000399444.2:c.835_835delinsTT	3.37:g.16630220_16630221delinsTT			O15396|Q5HYB4|Q92909	Splice_Site	DNP	ENST00000399444.2	37	CCDS43059.1																																																																																				0.342	DAZL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347261.2	NM_001351	Missense_Mutation	TT	16630221	CC	TT	16630220	5	4	736	1	0	0	0	0	0	0	1	0	4248	869	30	2	56	2	DAZL	3	16630220	Splice_Site	DNP	CC	TCGA-KN-8430-01A-11D-2310-10	52	16630220	181392210	16	42623											
SMARCC1	6599	hgsc.bcm.edu	37	3	47823126	47823126	+	Silent	SNP	C	C	T			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr3:47823126C>T	ENST00000254480.5	-	1	281	c.162G>A	c.(160-162)tcG>tcA	p.S54S	SMARCC1_ENST00000425518.1_Intron	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	54					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)		AGACCCGCACCGAATCCAGCT	0.701																																																0													18	22	21					3																	47823126		2177	4262	6439	SO:0001819	synonymous_variant	6599			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.162G>A	3.37:g.47823126C>T			Q17RS0|Q6P172|Q8IWH2	Silent	SNP	ENST00000254480.5	37	CCDS2758.1																																																																																				0.701	SMARCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257491.1			T	47823126	C	T	47823126	2	4	736	1	0	0	0	0	0	0	0	1	14781	639	23	1		1	SMARCC1	3	47823126	Silent	SNP	C	TCGA-KN-8430-01A-11D-2310-10	31192906	47823126	150199304	17	42624											
PBRM1	55193	mdanderson.org;bcgsc.ca	37	3	52643600	52643600	+	Missense_Mutation	SNP	C	C	A			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr3:52643600C>A	ENST00000296302.7	-	16	2297	c.2296G>T	c.(2296-2298)Gat>Tat	p.D766Y	PBRM1_ENST00000410007.1_Missense_Mutation_p.D766Y|PBRM1_ENST00000337303.4_Missense_Mutation_p.D766Y|PBRM1_ENST00000394830.3_Missense_Mutation_p.D766Y|PBRM1_ENST00000356770.4_Missense_Mutation_p.D734Y|PBRM1_ENST00000409114.3_Missense_Mutation_p.D781Y|PBRM1_ENST00000409767.1_Missense_Mutation_p.D781Y|PBRM1_ENST00000409057.1_Missense_Mutation_p.D766Y			Q86U86	PB1_HUMAN	polybromo 1	766					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)	p.D766fs*22(2)|p.D734fs*22(1)		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)		GAGTCCTCATCTCCCTCCAGG	0.433			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	3	Deletion - Frameshift(3)	kidney(3)											82	79	80					3																	52643600		2203	4300	6503	SO:0001583	missense	55193			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.2296G>T	3.37:g.52643600C>A	ENSP00000296302:p.Asp766Tyr		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	C	21.2	4.105828	0.77096	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	T;T;T;T;T;T;T;T;T;T	0.18960	2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18	6.17	6.17	0.99709	Bromodomain (1);	0.090503	0.85682	D	0.000000	T	0.24774	0.0601	L	0.29908	0.895	0.58432	D	0.999995	D;P;D;D;P;D;D;D;D;D;D	0.62365	0.968;0.804;0.972;0.988;0.796;0.959;0.959;0.985;0.991;0.959;0.959	B;B;B;P;B;B;B;P;B;B;P	0.46237	0.409;0.075;0.291;0.492;0.146;0.312;0.406;0.494;0.407;0.312;0.508	T	0.00304	-1.1832	10	0.54805	T	0.06	-5.6171	20.8794	0.99867	0.0:1.0:0.0:0.0	.	766;141;766;766;766;766;781;781;766;734;766	Q86U86-9;Q6IRX1;Q86U86-6;E7EVG2;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;.;.;PB1_HUMAN;.;.	Y	734;766;766;766;766;766;781;781;766;725	ENSP00000349213:D734Y;ENSP00000378307:D766Y;ENSP00000296302:D766Y;ENSP00000338302:D766Y;ENSP00000386593:D766Y;ENSP00000386529:D766Y;ENSP00000386643:D781Y;ENSP00000386601:D781Y;ENSP00000387775:D766Y;ENSP00000397662:D725Y	ENSP00000296302:D766Y	D	-	1	0	PBRM1	52618640	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.994000	0.70623	2.941000	0.99782	0.655000	0.94253	GAT		0.433	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		A	52643600	C	A	52643600	3	1	736	1	0	0	0	0	1	0	0	0	11493	913	32	4	2664	4	PBRM1	3	52643600	Missense_Mutation	SNP	C	TCGA-KN-8430-01A-11D-2310-10	4820474	52643600	145378830	18	42625											
CACNA1D	776	broad.mit.edu	37	3	53844075	53844075	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr3:53844075G>T	ENST00000350061.5	+	47	6453	c.5942G>T	c.(5941-5943)tGg>tTg	p.W1981L	CACNA1D_ENST00000544977.1_3'UTR|CACNA1D_ENST00000422281.2_Missense_Mutation_p.W1957L|CACNA1D_ENST00000288139.4_Missense_Mutation_p.W2001L	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1981					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)	ACCCGGTCGTGGGCCACCCCT	0.612																																																0													57	59	58					3																	53844075		2203	4300	6503	SO:0001583	missense	776			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.5942G>T	3.37:g.53844075G>T	ENSP00000288133:p.Trp1981Leu		B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.039880	0.75732	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478	T;T;T;T	0.58358	0.34;0.34;0.34;0.34	5.21	5.21	0.72293	.	0.090555	0.49305	D	0.000149	T	0.72236	0.3435	M	0.74647	2.275	0.80722	D	1	D;B;B;D	0.76494	0.999;0.012;0.439;0.999	D;B;B;D	0.70716	0.934;0.009;0.109;0.97	T	0.74321	-0.3703	10	0.56958	D	0.05	.	17.3269	0.87251	0.0:0.0:1.0:0.0	.	1957;1674;1981;2001	B0FYA3;Q59GD8;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	L	1981;2001;1957;1674	ENSP00000288133:W1981L;ENSP00000288139:W2001L;ENSP00000409174:W1957L;ENSP00000418014:W1674L	ENSP00000288139:W2001L	W	+	2	0	CACNA1D	53819115	1.000000	0.71417	0.999000	0.59377	0.915000	0.54546	9.790000	0.99075	2.608000	0.88229	0.460000	0.39030	TGG		0.612	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		T	53844075	G	T	53844075	3	4	736	1	0	0	0	0	1	0	0	0	2543	1357	47	4	6300	4	CACNA1D	3	53844075	Missense_Mutation	SNP	G	TCGA-KN-8430-01A-11D-2310-10	1200475	53844075	144178355	19	42626											
OR5H14	403273	mdanderson.org	37	3	97868391	97868391	+	Silent	SNP	T	T	C	rs143765725		TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr3:97868391T>C	ENST00000437310.1	+	1	222	c.162T>C	c.(160-162)caT>caC	p.H54H	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	54						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						AAGACCCTCATCTTCATATCC	0.418													t|||	1	0.000199681	0.0	0.0014	5008	,	,		21040	0.0		0.0	False		,,,				2504	0.0															0																																										SO:0001819	synonymous_variant	403273				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.162T>C	3.37:g.97868391T>C			B9EH15	Silent	SNP	ENST00000437310.1	37	CCDS33798.1																																																																																				0.418	OR5H14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359112.1			C	97868391	T	C	97868391	2	2	736	1	0	0	0	0	0	0	0	1	11162	1432	50	3		3	OR5H14	3	97868391	Silent	SNP	T	TCGA-KN-8430-01A-11D-2310-10	44024316	97868391	100154039	20	42627											
STAG1	10274	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	3	136076575	136076575	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr3:136076575C>T	ENST00000383202.2	-	28	3308	c.3052G>A	c.(3052-3054)Gac>Aac	p.D1018N	STAG1_ENST00000236698.5_Missense_Mutation_p.D1018N|STAG1_ENST00000536929.1_Missense_Mutation_p.D602N|STAG1_ENST00000434713.2_Missense_Mutation_p.D758N	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	1018					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)			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						GTCTTTTTGTCCTGTCGAAGA	0.294																																																0													83	82	83					3																	136076575		2201	4298	6499	SO:0001583	missense	10274			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.3052G>A	3.37:g.136076575C>T	ENSP00000372689:p.Asp1018Asn		O00539|Q6P275	Missense_Mutation	SNP	ENST00000383202.2	37	CCDS3090.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.010320	0.93346	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000434713;ENST00000536929	D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.93916	0.8053	M	0.89968	3.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94931	0.8082	10	0.87932	D	0	.	18.0967	0.89492	0.0:1.0:0.0:0.0	.	1018;1018	Q6P275;Q8WVM7	.;STAG1_HUMAN	N	1018;1018;758;602	ENSP00000372689:D1018N;ENSP00000236698:D1018N;ENSP00000404396:D758N;ENSP00000445787:D602N	ENSP00000236698:D1018N	D	-	1	0	STAG1	137559265	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.814000	0.86154	2.495000	0.84180	0.650000	0.86243	GAC		0.294	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	NM_005862		T	136076575	C	T	136076575	3	4	736	1	0	0	0	0	1	0	0	0	15247	855	30	2	752	2	STAG1	3	136076575	Missense_Mutation	SNP	C	TCGA-KN-8430-01A-11D-2310-10	38208184	136076575	61945855	21	42628											
SLC26A1	10861	mdanderson.org	37	4	985339	985339	+	Missense_Mutation	SNP	C	C	G	rs200471470	byFrequency	TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr4:985339C>G	ENST00000361661.2	-	3	530	c.153G>C	c.(151-153)caG>caC	p.Q51H	IDUA_ENST00000453894.1_Intron|SLC26A1_ENST00000398520.2_Missense_Mutation_p.Q51H|SLC26A1_ENST00000398516.2_Missense_Mutation_p.Q51H|SLC26A1_ENST00000513138.1_5'Flank|IDUA_ENST00000247933.4_Intron	NM_213613.2	NP_998778.1	Q9H2B4	S26A1_HUMAN	solute carrier family 26 (anion exchanger), member 1	51					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|chloride transport (GO:0006821)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|oxalate transport (GO:0019532)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|chloride transmembrane transporter activity (GO:0015108)|oxalate transmembrane transporter activity (GO:0019531)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GGAGCAGGTCCTGCACCAGCG	0.697																																																0								C	,HIS/GLN,HIS/GLN,HIS/GLN	0,4396		0,0,2198	26	24	25		,153,153,153	-1.1	0	4		25	3,8583		0,3,4290	no	intron,missense,missense,missense	IDUA,SLC26A1	NM_000203.3,NM_022042.2,NM_134425.1,NM_213613.2	,24,24,24	0,3,6488	GG,GC,CC		0.0349,0.0,0.0231	,possibly-damaging,possibly-damaging,possibly-damaging	,51/702,51/225,51/702	985339	3,12979	2198	4293	6491	SO:0001583	missense	10861			AF297659	CCDS33933.1, CCDS33934.1	4p16.3	2013-07-18	2013-07-18		ENSG00000145217	ENSG00000145217		"Solute carriers"	10993	protein-coding gene	gene with protein product		610130	"solute carrier family 26 (sulfate transporter), member 1"				Standard	NM_213613		Approved	SAT-1, EDM4	uc003gcc.3	Q9H2B4	OTTHUMG00000160003	ENST00000361661.2:c.153G>C	4.37:g.985339C>G	ENSP00000354721:p.Gln51His		A8K9N2|Q7Z5R3|Q96BK0	Missense_Mutation	SNP	ENST00000361661.2	37	CCDS33934.1	.	.	.	.	.	.	.	.	.	.	C	10.75	1.437794	0.25900	0.0	3.49E-4	ENSG00000145217	ENST00000398520;ENST00000361661;ENST00000398516	D;D;D	0.93307	-3.02;-3.2;-3.2	5.12	-1.13	0.09775	.	0.352418	0.31257	N	0.007971	D	0.85818	0.5785	N	0.19112	0.55	0.09310	N	0.999997	P;P	0.43477	0.808;0.808	B;P	0.45753	0.332;0.492	T	0.79172	-0.1913	10	0.30078	T	0.28	.	6.2708	0.20953	0.0:0.4781:0.1248:0.3971	.	51;51	Q9H2B4;Q96BK0	S26A1_HUMAN;.	H	51	ENSP00000381532:Q51H;ENSP00000354721:Q51H;ENSP00000381528:Q51H	ENSP00000354721:Q51H	Q	-	3	2	SLC26A1	975339	0.023000	0.18921	0.007000	0.13788	0.125000	0.20455	1.512000	0.35812	0.014000	0.14944	-0.379000	0.06801	CAG		0.697	SLC26A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358783.1	NM_022042, NM_134425		G	985339	C	G	985339	3	3	736	1	0	0	0	0	1	0	0	0	14520	680	24	4	2063	4	SLC26A1	4	985339	Missense_Mutation	SNP	C	TCGA-KN-8430-01A-11D-2310-10		985339	190168937	22	42629											
KCTD8	386617	mdanderson.org	37	4	44176969	44176969	+	Silent	SNP	G	G	C			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr4:44176969G>C	ENST00000360029.3	-	2	1543	c.1260C>G	c.(1258-1260)tcC>tcG	p.S420S		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	420					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						TTGTTTCCCGGGACTTGCTGA	0.413										HNSCC(17;0.042)																																						0													212	222	219					4																	44176969		2203	4300	6503	SO:0001819	synonymous_variant	386617			AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 8"				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.1260C>G	4.37:g.44176969G>C			A2RU39	Silent	SNP	ENST00000360029.3	37	CCDS3467.1																																																																																				0.413	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216868.1			C	44176969	G	C	44176969	2	2	736	1	0	0	0	0	0	0	0	1	8117	1219	43	4		4	KCTD8	4	44176969	Silent	SNP	G	TCGA-KN-8430-01A-11D-2310-10	43191630	44176969	146977307	23	42630											
KIAA1211	57482	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	4	57181970	57181970	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr4:57181970G>A	ENST00000504228.1	+	6	2407	c.2302G>A	c.(2302-2304)Gag>Aag	p.E768K	KIAA1211_ENST00000541073.1_Missense_Mutation_p.E761K|KIAA1211_ENST00000264229.6_Missense_Mutation_p.E768K			Q6ZU35	K1211_HUMAN	KIAA1211	768										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)					TGGTGTTCGCGAGCTCGGGAA	0.602																																																0													52	65	60					4																	57181970		1945	4138	6083	SO:0001583	missense	57482			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.2302G>A	4.37:g.57181970G>A	ENSP00000423366:p.Glu768Lys		Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	G	6.105	0.387601	0.11581	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	T;T;T	0.11712	2.75;2.75;2.75	3.92	3.08	0.35506	.	.	.	.	.	T	0.04998	0.0134	N	0.12182	0.205	0.09310	N	1	B;B;B	0.14012	0.009;0.009;0.009	B;B;B	0.15052	0.012;0.004;0.004	T	0.45145	-0.9281	9	0.11182	T	0.66	-12.7984	4.905	0.13793	0.405:0.0:0.595:0.0	.	761;761;768	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	K	768;768;761;678	ENSP00000264229:E768K;ENSP00000423366:E768K;ENSP00000444006:E761K	ENSP00000264229:E768K	E	+	1	0	KIAA1211	56876727	0.791000	0.28800	0.025000	0.17156	0.005000	0.04900	4.000000	0.57039	0.855000	0.35359	0.561000	0.74099	GAG		0.602	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		A	57181970	G	A	57181970	3	1	736	1	0	0	0	0	1	0	0	0	8217	1059	37	1	2320	1	KIAA1211	4	57181970	Missense_Mutation	SNP	G	TCGA-KN-8430-01A-11D-2310-10	13005001	57181970	133972306	24	42631											
CCDC158	339965	broad.mit.edu	37	4	77305357	77305357	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr4:77305357delT	ENST00000388914.3	-	5	762	c.610delA	c.(610-612)atafs	p.I204fs	CCDC158_ENST00000434846.2_Frame_Shift_Del_p.I204fs	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	204										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						TGTTCACATATTTTTTTGCCT	0.393																																																0													106	97	100					4																	77305357		1872	4116	5988	SO:0001589	frameshift_variant	339965			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.610delA	4.37:g.77305357delT	ENSP00000373566:p.Ile204fs		Q8IYQ1|Q8N7D4|Q8N7E3	Frame_Shift_Del	DEL	ENST00000388914.3	37	CCDS43242.1																																																																																				0.393	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	NM_001042784		-	77305357	T	-	77305357	7	5	736	1	0	1	0	1	0	0	0	0	2792	1493	52	0	2811	0	CCDC158	4	77305357	Frame_Shift_Del	DEL	T	TCGA-KN-8430-01A-11D-2310-10	20123387	77305357	113848919	25	42632											
HERC5	51191	broad.mit.edu;mdanderson.org	37	4	89408222	89408222	+	Silent	SNP	C	C	T	rs369956338		TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr4:89408222C>T	ENST00000264350.3	+	15	2007	c.1854C>T	c.(1852-1854)gaC>gaT	p.D618D	HERC5_ENST00000508159.1_Silent_p.D256D	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	618					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)		ATTTTTAGGACGCTTCAGAAA	0.338																																					Esophageal Squamous(39;887 1012 34045 50514)											0								C		1,4405	2.1+/-5.4	0,1,2202	78	77	77		1854	-3.7	0	4		77	0,8596		0,0,4298	no	coding-synonymous	HERC5	NM_016323.2		0,1,6500	TT,TC,CC		0.0,0.0227,0.0077		618/1025	89408222	1,13001	2203	4298	6501	SO:0001819	synonymous_variant	51191			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.1854C>T	4.37:g.89408222C>T			B2RTQ1|Q69G20	Silent	SNP	ENST00000264350.3	37	CCDS3630.1																																																																																				0.338	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253554.2	NM_016323		T	89408222	C	T	89408222	2	4	736	1	0	0	0	0	0	0	0	1	7063	535	19	1		1	HERC5	4	89408222	Silent	SNP	C	TCGA-KN-8430-01A-11D-2310-10	12102865	89408222	101746054	26	42633											
ADH1A	124	mdanderson.org	37	4	100203572	100203572	+	Silent	SNP	C	C	T			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr4:100203572C>T	ENST00000209668.2	-	6	872	c.759G>A	c.(757-759)gaG>gaA	p.E253E	RP11-696N14.1_ENST00000506160.1_RNA|RP11-696N14.1_ENST00000500358.2_RNA	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	253					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)	CCTTTAGCACCTCCTGGATGG	0.463																																																0													352	350	351					4																	100203572		2203	4300	6503	SO:0001819	synonymous_variant	124			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.759G>A	4.37:g.100203572C>T			A8K3E3|Q17R68	Silent	SNP	ENST00000209668.2	37	CCDS3648.1																																																																																				0.463	ADH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253669.1	NM_000667		T	100203572	C	T	100203572	2	4	736	1	0	0	0	0	0	0	0	1	307	680	24	2		2	ADH1A	4	100203572	Silent	SNP	C	TCGA-KN-8430-01A-11D-2310-10	10795350	100203572	90950704	27	42634											
COL25A1	84570	broad.mit.edu;mdanderson.org;bcgsc.ca	37	4	110221771	110221771	+	Missense_Mutation	SNP	C	C	G			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr4:110221771C>G	ENST00000399132.1	-	3	865	c.335G>C	c.(334-336)aGa>aCa	p.R112T	AC004051.2_ENST00000500526.1_lincRNA|COL25A1_ENST00000399127.1_Missense_Mutation_p.R112T|COL25A1_ENST00000399126.1_Missense_Mutation_p.R112T	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)		AGGTGCTTCTCTTGCGATTCT	0.383																																																0													195	173	180					4																	110221771		1849	4102	5951	SO:0001583	missense	84570			AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"Collagens"	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.335G>C	4.37:g.110221771C>G	ENSP00000382083:p.Arg112Thr			Missense_Mutation	SNP	ENST00000399132.1	37	CCDS43258.1	.	.	.	.	.	.	.	.	.	.	C	13.00	2.107390	0.37145	.	.	ENSG00000188517	ENST00000399132;ENST00000333642;ENST00000401873;ENST00000399127;ENST00000399126;ENST00000443653	D;T;D	0.92048	-2.75;0.71;-2.96	5.38	5.38	0.77491	.	0.000000	0.51477	D	0.000084	D	0.93497	0.7925	L	0.36672	1.1	0.80722	D	1	D;D;D	0.71674	0.998;0.989;0.967	D;D;P	0.78314	0.991;0.985;0.879	D	0.92353	0.5891	9	.	.	.	-13.2884	16.4169	0.83745	0.0:1.0:0.0:0.0	.	112;112;112	A8MWQ5;Q9BXS0-2;Q9BXS0	.;.;COPA1_HUMAN	T	112	ENSP00000382083:R112T;ENSP00000382078:R112T;ENSP00000382077:R112T	.	R	-	2	0	COL25A1	110441220	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	5.104000	0.64584	2.686000	0.91538	0.650000	0.86243	AGA		0.383	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2	NM_032518		G	110221771	C	G	110221771	3	3	736	1	0	0	0	0	1	0	0	0	3686	913	32	4	1853	4	COL25A1	4	110221771	Missense_Mutation	SNP	C	TCGA-KN-8430-01A-11D-2310-10	10018199	110221771	80932505	28	42635											
KIAA1109	84162	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	4	123265699	123265699	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr4:123265699C>T	ENST00000264501.4	+	74	13089	c.12716C>T	c.(12715-12717)aCg>aTg	p.T4239M	KIAA1109_ENST00000388738.3_Missense_Mutation_p.T4239M			Q2LD37	K1109_HUMAN	KIAA1109	4239					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						ATGGATACTACGTTAATAAAT	0.308																																																0													103	99	100					4																	123265699		1834	4083	5917	SO:0001583	missense	84162			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.12716C>T	4.37:g.123265699C>T	ENSP00000264501:p.Thr4239Met		Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.7|24.7	4.557440|4.557440	0.86231|0.86231	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000306802|ENST00000264501;ENST00000388738;ENST00000438707	.|T;T;T	.|0.32753	.|2.42;2.42;1.44	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.51924|0.51924	0.1703|0.1703	L|L	0.47716|0.47716	1.5|1.5	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	0.50591|0.50591	-0.8810|-0.8810	5|10	.|0.66056	.|D	.|0.02	.|.	19.4516|19.4516	0.94871|0.94871	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|4238;4239	.|Q2LD37-4;Q2LD37	.|.;K1109_HUMAN	C|M	615|4239;4239;908	.|ENSP00000264501:T4239M;ENSP00000373390:T4239M;ENSP00000410874:T908M	.|ENSP00000264501:T4239M	R|T	+|+	1|2	0|0	KIAA1109|KIAA1109	123485149|123485149	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.951000|0.951000	0.60555|0.60555	7.631000|7.631000	0.83237|0.83237	2.590000|2.590000	0.87494|0.87494	0.655000|0.655000	0.94253|0.94253	CGT|ACG		0.308	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		T	123265699	C	T	123265699	3	4	736	1	0	0	0	0	1	0	0	0	8210	536	19	1	13002	1	KIAA1109	4	123265699	Missense_Mutation	SNP	C	TCGA-KN-8430-01A-11D-2310-10	13043928	123265699	67888577	29	42636											
FRG1	2483	mdanderson.org	37	4	190873411	190873411	+	Silent	SNP	T	T	C			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr4:190873411T>C	ENST00000226798.4	+	3	450	c.228T>C	c.(226-228)ggT>ggC	p.G76G	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	76					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)		TCGACAATGGTCTTTTTACCC	0.423																																																0													88	102	97					4																	190873411		2202	4292	6494	SO:0001819	synonymous_variant	2483			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.228T>C	4.37:g.190873411T>C			A8K775	Silent	SNP	ENST00000226798.4	37	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	4.506	0.093856	0.08632	.	.	ENSG00000109536	ENST00000524583	.	.	.	3.47	-6.93	0.01638	.	.	.	.	.	T	0.49847	0.1581	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57447	-0.7810	5	0.72032	D	0.01	-6.6814	2.1213	0.03726	0.2624:0.3899:0.0988:0.2489	.	.	.	.	A	6	.	ENSP00000435067:V6A	V	+	2	0	FRG1	191110405	0.036000	0.19791	0.635000	0.29338	0.933000	0.57130	-0.963000	0.03837	-1.953000	0.01026	-1.442000	0.01069	GTC		0.423	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		C	190873411	T	C	190873411	2	2	736	1	0	0	0	0	0	0	0	1	6048	1654	58	3		3	FRG1	4	190873411	Silent	SNP	T	TCGA-KN-8430-01A-11D-2310-10	67607712	190873411	280865	30	42637											
SDHA	6389	mdanderson.org	37	5	236676	236676	+	Missense_Mutation	SNP	G	G	A	rs138277996	byFrequency	TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr5:236676G>A	ENST00000264932.6	+	10	1509	c.1394G>A	c.(1393-1395)cGg>cAg	p.R465Q	SDHA_ENST00000510361.1_Missense_Mutation_p.R417Q|SDHA_ENST00000504309.1_Missense_Mutation_p.R465Q	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	465					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)	GTCTTTGGTCGGGCATGTGCC	0.577									Familial Paragangliomas																																							0													87	79	82					5																	236676		2203	4300	6503	SO:0001583	missense	6389	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	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.1394G>A	5.37:g.236676G>A	ENSP00000264932:p.Arg465Gln		A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	ENST00000264932.6	37	CCDS3853.1	149|149	0.06822344322344322|0.06822344322344322	31|31	0.06300813008130081|0.06300813008130081	39|39	0.10773480662983426|0.10773480662983426	48|48	0.08391608391608392|0.08391608391608392	31|31	0.040897097625329816|0.040897097625329816	a|a	35|35	5.478541|5.478541	0.96291|0.96291	.|.	.|.	ENSG00000073578|ENSG00000073578	ENST00000515815|ENST00000264932;ENST00000327872;ENST00000504309;ENST00000510361	.|T;T;T	.|0.66280	.|-0.2;-0.2;-0.2	5.01|5.01	5.01|5.01	0.66863|0.66863	.|.	.|0.225299	.|0.34932	.|U	.|0.003561	T|T	0.04227|0.04227	0.0117|0.0117	H|H	0.94423|0.94423	3.535|3.535	0.80722|0.80722	D|D	1|1	.|P;D;D;D;D	.|0.61080	.|0.718;0.989;0.982;0.978;0.987	.|B;B;B;B;B	.|0.41666	.|0.122;0.342;0.236;0.217;0.363	T|T	0.57585|0.57585	-0.7786|-0.7786	5|10	.|0.87932	.|D	.|0	.|.	14.1614|14.1614	0.65450|0.65450	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|417;465;59;465;465	.|E9PBJ5;B4DYN5;B3KYA5;D6RFM5;P31040	.|.;.;.;.;DHSA_HUMAN	R|Q	17|465;320;465;417	.|ENSP00000264932:R465Q;ENSP00000426514:R465Q;ENSP00000427703:R417Q	.|ENSP00000264932:R465Q	G|R	+|+	1|2	0|0	SDHA|SDHA	289676|289676	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.875000|0.875000	0.50365|0.50365	7.637000|7.637000	0.83313|0.83313	2.483000|2.483000	0.83821|0.83821	0.650000|0.650000	0.86243|0.86243	GGG|CGG		0.577	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	NM_004168		A	236676	G	A	236676	3	1	736	1	0	0	0	0	1	0	0	0	13969	1116	39	1	1432	1	SDHA	5	236676	Missense_Mutation	SNP	G	TCGA-KN-8430-01A-11D-2310-10		236676	180678584	31	42638	397	2									
SDHA	6389	mdanderson.org	37	5	236678	236678	+	Missense_Mutation	SNP	G	G	A	rs111387770	byFrequency	TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr5:236678G>A	ENST00000264932.6	+	10	1511	c.1396G>A	c.(1396-1398)Gca>Aca	p.A466T	SDHA_ENST00000510361.1_Missense_Mutation_p.A418T|SDHA_ENST00000504309.1_Missense_Mutation_p.A466T	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	466					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)	CTTTGGTCGGGCATGTGCCCT	0.577									Familial Paragangliomas																																							0													86	78	81					5																	236678		2203	4300	6503	SO:0001583	missense	6389	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	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.1396G>A	5.37:g.236678G>A	ENSP00000264932:p.Ala466Thr		A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	ENST00000264932.6	37	CCDS3853.1	235	0.10760073260073261	47	0.09552845528455285	43	0.11878453038674033	73	0.12762237762237763	72	0.09498680738786279	g	32	5.147215	0.94603	.	.	ENSG00000073578	ENST00000264932;ENST00000327872;ENST00000504309;ENST00000510361	T;T;T	0.63580	-0.05;-0.05;-0.05	5.01	5.01	0.66863	.	0.138027	0.47852	U	0.000203	T	0.02012	0.0063	M	0.86097	2.795	0.80722	D	1	B;B;D;B;B	0.59357	0.085;0.268;0.985;0.433;0.411	B;B;P;B;B	0.50109	0.049;0.189;0.631;0.132;0.068	T	0.27706	-1.0066	10	0.87932	D	0	.	14.1614	0.65450	0.0:0.0:1.0:0.0	.	418;466;60;466;466	E9PBJ5;B4DYN5;B3KYA5;D6RFM5;P31040	.;.;.;.;DHSA_HUMAN	T	466;321;466;418	ENSP00000264932:A466T;ENSP00000426514:A466T;ENSP00000427703:A418T	ENSP00000264932:A466T	A	+	1	0	SDHA	289678	1.000000	0.71417	0.992000	0.48379	0.881000	0.50899	9.454000	0.97621	2.483000	0.83821	0.650000	0.86243	GCA		0.577	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	NM_004168		A	236678	G	A	236678	3	1	736	1	0	0	0	0	1	0	0	0	13969	1203	42	2	1434	2	SDHA	5	236678	Missense_Mutation	SNP	G	TCGA-KN-8430-01A-11D-2310-10	2	236678	180678582	32	42639	397	2									
ZFR	51663	broad.mit.edu	37	5	32444365	32444372	+	Frame_Shift_Del	DEL	GCCCCGCT	GCCCCGCT	-			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	GCCCCGCT	GCCCCGCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr5:32444365_32444372delGCCCCGCT	ENST00000265069.8	-	2	202_209	c.100_107delAGCGGGGC	c.(100-108)agcggggcgfs	p.SGA34fs		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	34					multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		cgccgccgccgccCCGCTGTGGGTGAAT	0.668																																																0																																										SO:0001589	frameshift_variant	51663			AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.100_107delAGCGGGGC	5.37:g.32444365_32444372delGCCCCGCT	ENSP00000265069:p.Ser34fs		B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Frame_Shift_Del	DEL	ENST00000265069.8	37	CCDS34139.1																																																																																				0.668	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1			-	32444372	GCCCCGCT	-	32444365	7	5	736	1	0	1	0	1	0	0	0	0	17664	1087	38	0	3193	0	ZFR	5	32444365	Frame_Shift_Del	DEL	GCCCCGCT	TCGA-KN-8430-01A-11D-2310-10	32207687	32444365	148470895	33	42640	398	2									
ZFR	51663	bcgsc.ca	37	5	32444366	32444373	+	Frame_Shift_Del	DEL	GCCCCGCT	GCCCCGCT	-			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	GCCCCGCT	GCCCCGCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr5:32444366_32444373delGCCCCGCT	ENST00000265069.8	-	2	201_208	c.99_106delAGCGGGGC	c.(97-108)caagcggggccgfs	p.QAGP33fs		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	33					multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		gccgccgccgccCCGCTGTGGGTGAATC	0.663																																																0																																										SO:0001589	frameshift_variant	51663			AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.99_106delAGCGGGGC	5.37:g.32444366_32444373delGCCCCGCT	ENSP00000265069:p.Gln33fs		B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Frame_Shift_Del	DEL	ENST00000265069.8	37	CCDS34139.1																																																																																				0.663	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1			-	32444373	GCCCCGCT	-	32444366	7	5	736	1	0	1	0	1	0	0	0	0	17664	739	26	0	3194	0	ZFR	5	32444366	Frame_Shift_Del	DEL	GCCCCGCT	TCGA-KN-8430-01A-11D-2310-10	1	32444366	148470894	34	42641	398	2									
CMYA5	202333	broad.mit.edu	37	5	79025641	79025641	+	Silent	SNP	A	A	G	rs369390314		TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr5:79025641A>G	ENST00000446378.2	+	2	1084	c.1053A>G	c.(1051-1053)gcA>gcG	p.A351A		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	351					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)		GTGGCAGAGCAGAACAAGGAA	0.453																																																0								A		0,4162		0,0,2081	70	69	69		1053	1.4	0.1	5		69	1,8441		0,1,4220	no	coding-synonymous	CMYA5	NM_153610.3		0,1,6301	GG,GA,AA		0.0118,0.0,0.0079		351/4070	79025641	1,12603	2081	4221	6302	SO:0001819	synonymous_variant	202333			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.1053A>G	5.37:g.79025641A>G			A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Silent	SNP	ENST00000446378.2	37	CCDS47238.1																																																																																				0.453	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		G	79025641	A	G	79025641	2	3	736	1	0	0	0	0	0	0	0	1	3592	175	7	3		3	CMYA5	5	79025641	Silent	SNP	A	TCGA-KN-8430-01A-11D-2310-10	46581275	79025641	101889619	35	42642											
DMXL1	1657	broad.mit.edu	37	5	118505983	118505983	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr5:118505983A>G	ENST00000311085.8	+	24	5577	c.5497A>G	c.(5497-5499)Aca>Gca	p.T1833A	DMXL1_ENST00000539542.1_Missense_Mutation_p.T1833A	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1833										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)		ATCATCTGATACATTTTCCAC	0.348																																																0													70	70	70					5																	118505983		2202	4300	6502	SO:0001583	missense	1657			AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"WD repeat domain containing"	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.5497A>G	5.37:g.118505983A>G	ENSP00000309690:p.Thr1833Ala			Missense_Mutation	SNP	ENST00000311085.8	37	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	A	1.142	-0.649136	0.03506	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.09163	3.01;3.01	5.52	3.57	0.40892	.	0.395739	0.27275	N	0.020120	T	0.01940	0.0061	N	0.00347	-1.61	0.22199	N	0.999298	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.40887	-0.9539	10	0.11182	T	0.66	-0.7386	2.8114	0.05443	0.3498:0.0:0.3273:0.3229	.	1833;1833	F5H269;Q9Y485	.;DMXL1_HUMAN	A	1833	ENSP00000309690:T1833A;ENSP00000439479:T1833A	ENSP00000309690:T1833A	T	+	1	0	DMXL1	118533882	0.002000	0.14202	0.949000	0.38748	0.910000	0.53928	0.366000	0.20365	0.558000	0.29135	0.455000	0.32223	ACA		0.348	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		G	118505983	A	G	118505983	3	3	736	1	0	0	0	0	1	0	0	0	4596	391	14	3	5591	3	DMXL1	5	118505983	Missense_Mutation	SNP	A	TCGA-KN-8430-01A-11D-2310-10	39480342	118505983	62409277	36	42643											
VEGFA	7422	broad.mit.edu	37	6	43746626	43746626	+	Splice_Site	SNP	A	A	G			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr6:43746626A>G	ENST00000523873.1	+	5	431	c.393A>G	c.(391-393)agA>agG	p.R131R	VEGFA_ENST00000523125.1_Splice_Site_p.R131R|VEGFA_ENST00000518689.1_Splice_Site_p.R131R|VEGFA_ENST00000230480.6_Splice_Site_p.R103R|VEGFA_ENST00000413642.3_Splice_Site_p.R311R|VEGFA_ENST00000482630.2_Splice_Site_p.R311R|VEGFA_ENST00000372064.4_Splice_Site_p.R311R|VEGFA_ENST00000372067.3_Splice_Site_p.R311R|VEGFA_ENST00000324450.6_Intron|VEGFA_ENST00000523950.1_Splice_Site_p.R131R|VEGFA_ENST00000518824.1_Splice_Site_p.R131R|VEGFA_ENST00000520948.1_Splice_Site_p.R131R|VEGFA_ENST00000417285.2_Splice_Site_p.R311R|VEGFA_ENST00000372077.4_Splice_Site_p.R131R|VEGFA_ENST00000372055.4_Splice_Site_p.R311R|VEGFA_ENST00000425836.2_Splice_Site_p.R311R|VEGFA_ENST00000457104.2_Intron			P15692	VEGFA_HUMAN	vascular endothelial growth factor A	131					activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|artery morphogenesis (GO:0048844)|basophil chemotaxis (GO:0002575)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|camera-type eye morphogenesis (GO:0048593)|cardiac muscle fiber development (GO:0048739)|cardiac vascular smooth muscle cell development (GO:0060948)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to hypoxia (GO:0071456)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|dopaminergic neuron differentiation (GO:0071542)|endothelial cell chemotaxis (GO:0035767)|epithelial cell differentiation (GO:0030855)|eye photoreceptor cell development (GO:0042462)|growth (GO:0040007)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|induction of positive chemotaxis (GO:0050930)|kidney development (GO:0001822)|lactation (GO:0007595)|lung development (GO:0030324)|lymph vessel morphogenesis (GO:0036303)|macrophage differentiation (GO:0030225)|mammary gland alveolus development (GO:0060749)|mesoderm development (GO:0007498)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|outflow tract morphogenesis (GO:0003151)|ovarian follicle development (GO:0001541)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|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 proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cellular component movement (GO:0051272)|positive regulation of CREB transcription factor activity (GO:0032793)|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 epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine autophosphorylation (GO:1900086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein localization to early endosome (GO:1902966)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor internalization (GO:0002092)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|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 vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of vascular permeability (GO:0043117)|post-embryonic camera-type eye development (GO:0031077)|primitive erythrocyte differentiation (GO:0060319)|regulation of cell shape (GO:0008360)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to hypoxia (GO:0001666)|surfactant homeostasis (GO:0043129)|tube formation (GO:0035148)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|VEGF-activated neuropilin signaling pathway (GO:0038190)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|neuropilin binding (GO:0038191)|platelet-derived growth factor receptor binding (GO:0005161)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor agonist activity (GO:0048018)|vascular endothelial growth factor receptor 1 binding (GO:0043183)|vascular endothelial growth factor receptor 2 binding (GO:0043184)|vascular endothelial growth factor receptor binding (GO:0005172)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		Aflibercept(DB08885)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Dalteparin(DB06779)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Vandetanib(DB05294)	CCCATTGCAGACCAAAGAAAG	0.438																																																0													199	171	181					6																	43746626		2203	4300	6503	SO:0001630	splice_region_variant	7422			AB021221	CCDS34457.1, CCDS4907.2, CCDS34458.1, CCDS47432.1, CCDS47433.1, CCDS47434.1, CCDS47435.1, CCDS55007.1, CCDS55008.1, CCDS55009.1, CCDS55010.1, CCDS55011.1, CCDS55012.1, CCDS55013.1, CCDS55014.1, CCDS55015.1, CCDS69125.1	6p12	2008-02-05	2006-10-31	2006-10-31	ENSG00000112715	ENSG00000112715			12680	protein-coding gene	gene with protein product		192240	"vascular endothelial growth factor"	VEGF		8786112	Standard	NM_001025366		Approved	VEGF-A, VPF	uc003owh.3	P15692	OTTHUMG00000014745	ENST00000523873.1:c.393-1A>G	6.37:g.43746626A>G			B5BU86|H0Y2S8|H0Y407|H0Y414|H0Y462|H0Y8N2|H3BLW7|O60720|O75875|Q074Z4|Q16889|Q5UB46|Q6P0P5|Q96KJ0|Q96L82|Q96NW5|Q9H1W8|Q9H1W9|Q9UH58|Q9UL23	Silent	SNP	ENST00000523873.1	37	CCDS55010.1	.	.	.	.	.	.	.	.	.	.	A	15.98	2.991235	0.54041	.	.	ENSG00000112715	ENST00000519767	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	T	0.62159	0.2405	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62927	-0.6750	4	.	.	.	.	13.9439	0.64073	1.0:0.0:0.0:0.0	.	.	.	.	A	283	.	.	T	+	1	0	VEGFA	43854604	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.043000	0.71004	2.288000	0.76882	0.533000	0.62120	ACC		0.438	VEGFA-021	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374460.1	NM_001025366	Silent	G	43746626	A	G	43746626	5	3	736	1	0	0	0	0	0	0	1	0	17155	289	10	3	951	3	VEGFA	6	43746626	Splice_Site	SNP	A	TCGA-KN-8430-01A-11D-2310-10		43746626	127368441	37	42644											
CAPN11	11131	broad.mit.edu;bcgsc.ca	37	6	44150954	44150954	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr6:44150954A>G	ENST00000398776.1	+	21	2154	c.2116A>G	c.(2116-2118)Agg>Ggg	p.R706G	CAPN11_ENST00000542245.1_Missense_Mutation_p.R706G	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	706	Domain IV.				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)			CTGTTTCCTGAGGCTAAAGAC	0.547																																																0													145	137	139					6																	44150954		1967	4158	6125	SO:0001583	missense	11131			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.2116A>G	6.37:g.44150954A>G	ENSP00000381758:p.Arg706Gly		B2RA64|Q5T3G1|Q8N4R5	Missense_Mutation	SNP	ENST00000398776.1	37	CCDS47436.1	.	.	.	.	.	.	.	.	.	.	A	17.02	3.282348	0.59867	.	.	ENSG00000137225	ENST00000398776;ENST00000542245	T;T	0.31510	1.49;1.49	5.23	4.04	0.47022	EF-hand-like domain (1);	0.674554	0.12929	N	0.427557	T	0.49847	0.1581	M	0.92784	3.345	0.27095	N	0.962762	D	0.76494	0.999	D	0.65684	0.937	T	0.51466	-0.8702	10	0.87932	D	0	.	11.4587	0.50197	0.8492:0.1508:0.0:0.0	.	706	Q9UMQ6	CAN11_HUMAN	G	706	ENSP00000381758:R706G;ENSP00000441078:R706G	ENSP00000381758:R706G	R	+	1	2	CAPN11	44258932	0.993000	0.37304	1.000000	0.80357	0.909000	0.53808	2.567000	0.45956	0.952000	0.37798	0.523000	0.50628	AGG		0.547	CAPN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040714.3			G	44150954	A	G	44150954	3	3	736	1	0	0	0	0	1	0	0	0	2626	295	11	3	2198	3	CAPN11	6	44150954	Missense_Mutation	SNP	A	TCGA-KN-8430-01A-11D-2310-10	404328	44150954	126964113	38	42645											
DST	667	broad.mit.edu	37	6	56422170	56422171	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr6:56422170_56422171insA	ENST00000361203.3	-	55	13960_13961	c.13953_13954insT	c.(13951-13956)cttgggfs	p.G4652fs	DST_ENST00000370769.4_Frame_Shift_Ins_p.G4654fs|DST_ENST00000244364.6_Frame_Shift_Ins_p.G2240fs|DST_ENST00000421834.2_Frame_Shift_Ins_p.G2566fs|DST_ENST00000370754.5_Frame_Shift_Ins_p.G4832fs|DST_ENST00000446842.2_Frame_Shift_Ins_p.G4328fs|DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_Frame_Shift_Ins_p.G2566fs			Q03001	DYST_HUMAN	dystonin	4652					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)			GACAAGGGCCCAAGAACACTGA	0.426																																																0																																										SO:0001589	frameshift_variant	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.13954dupT	6.37:g.56422172_56422172dupA	ENSP00000354508:p.Gly4652fs		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Frame_Shift_Ins	INS	ENST00000361203.3	37																																																																																					0.426	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		A	56422171	-	A	56422170	7	5	736	1	0	1	1	0	0	0	0	0	4785	594	21	0	8977	0	DST	6	56422170	Frame_Shift_Ins	INS	-	TCGA-KN-8430-01A-11D-2310-10	12271216	56422170	114692897	39	42646											
SAMD5	389432	broad.mit.edu	37	6	147830410	147830411	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr6:147830410_147830411insC	ENST00000367474.1	+	1	348_349	c.346_347insC	c.(346-348)gccfs	p.A116fs		NM_001030060.2	NP_001025231.1	Q5TGI4	SAMD5_HUMAN	sterile alpha motif domain containing 5	116													Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;9.55e-10)|GBM - Glioblastoma multiforme(68;0.112)		CCACACGACCGCCCCCCGCAGC	0.743																																																0																																										SO:0001589	frameshift_variant	389432			AL354880	CCDS34548.1	6q24.3	2013-01-10			ENSG00000203727	ENSG00000203727		"Sterile alpha motif (SAM) domain containing"	21180	protein-coding gene	gene with protein product							Standard	NM_001030060		Approved	dJ875H10.1	uc003qmc.2	Q5TGI4	OTTHUMG00000015767	ENST00000367474.1:c.352dupC	6.37:g.147830416_147830416dupC	ENSP00000356444:p.Ala116fs			Frame_Shift_Ins	INS	ENST00000367474.1	37	CCDS34548.1																																																																																				0.743	SAMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042610.1	NM_001030060		C	147830411	-	C	147830410	7	5	736	1	0	1	1	0	0	0	0	0	13829	1087	38	0	348	0	SAMD5	6	147830410	Frame_Shift_Ins	INS	-	TCGA-KN-8430-01A-11D-2310-10	91408240	147830410	23284657	40	42647											
TTLL2	83887	bcgsc.ca	37	6	167753795	167753795	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr6:167753795A>G	ENST00000239587.5	+	3	495	c.407A>G	c.(406-408)aAc>aGc	p.N136S		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	136	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)		ligase activity (GO:0016874)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		ACCGAACACAACAGTGTTAAA	0.522																																																0													158	139	145					6																	167753795		2203	4300	6503	SO:0001583	missense	83887			AK093039	CCDS5301.1	6q27	2013-02-14		2004-01-14	ENSG00000120440	ENSG00000120440		"Tubulin tyrosine ligase-like family"	21211	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 104"	C6orf104		11054573	Standard	XM_006715572		Approved	NYD-TSPG, dJ366N23.3	uc003qvs.1	Q9BWV7	OTTHUMG00000016023	ENST00000239587.5:c.407A>G	6.37:g.167753795A>G	ENSP00000239587:p.Asn136Ser		B2RB11|B3KS77|Q7Z6R8|Q86X22	Missense_Mutation	SNP	ENST00000239587.5	37	CCDS5301.1	.	.	.	.	.	.	.	.	.	.	a	0.436	-0.900972	0.02472	.	.	ENSG00000120440	ENST00000239587;ENST00000540954	T	0.02258	4.37	3.37	-4.51	0.03483	.	2.260220	0.02250	N	0.066544	T	0.00300	0.0009	N	0.05078	-0.115	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.47032	-0.9148	10	0.10111	T	0.7	.	0.763	0.01010	0.4153:0.1434:0.1229:0.3185	.	136	Q9BWV7	TTLL2_HUMAN	S	136;63	ENSP00000239587:N136S	ENSP00000239587:N136S	N	+	2	0	TTLL2	167673785	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.078000	0.14761	-0.589000	0.05874	-2.495000	0.00193	AAC		0.522	TTLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043127.3	NM_031949		G	167753795	A	G	167753795	3	3	736	1	0	0	0	0	1	0	0	0	16732	43	2	3	417	3	TTLL2	6	167753795	Missense_Mutation	SNP	A	TCGA-KN-8430-01A-11D-2310-10	19923385	167753795	3361272	41	42648											
TRRAP	8295	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	7	98609129	98609129	+	Missense_Mutation	SNP	G	G	A	rs145619183		TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr7:98609129G>A	ENST00000359863.4	+	71	11475	c.11266G>A	c.(11266-11268)Gcc>Acc	p.A3756T	AC004893.11_ENST00000360902.1_RNA|TRRAP_ENST00000446306.3_Missense_Mutation_p.A3745T|TRRAP_ENST00000355540.3_Missense_Mutation_p.A3727T	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3756	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				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)			GATTGCGGTCGCCCGGTGCTT	0.612																																																0								G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	69	64	66		11179	3.8	0.3	7	dbSNP_134	66	0,8600		0,0,4300	no	missense	TRRAP	NM_003496.3	58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	3727/3831	98609129	1,13005	2203	4300	6503	SO:0001583	missense	8295			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.11266G>A	7.37:g.98609129G>A	ENSP00000352925:p.Ala3756Thr		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.352462	0.82132	2.27E-4	0.0	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.81330	-1.48;-1.48	5.67	3.83	0.44106	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.055645	0.64402	D	0.000001	D	0.91212	0.7231	M	0.91196	3.185	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74348	0.98;0.976;0.983	D	0.92652	0.6134	10	0.87932	D	0	.	15.096	0.72235	0.0:0.0:0.7422:0.2578	.	3727;3484;3756	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	T	3756;3727;3744	ENSP00000352925:A3756T;ENSP00000347733:A3727T	ENSP00000347733:A3727T	A	+	1	0	TRRAP	98447065	1.000000	0.71417	0.273000	0.24645	0.502000	0.33828	7.626000	0.83164	0.715000	0.32103	0.655000	0.94253	GCC		0.612	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		A	98609129	G	A	98609129	3	1	736	1	0	0	0	0	1	0	0	0	16606	1087	38	1	11453	1	TRRAP	7	98609129	Missense_Mutation	SNP	G	TCGA-KN-8430-01A-11D-2310-10		98609129	60529534	42	42649											
MYL10	93408	hgsc.bcm.edu;mdanderson.org	37	7	101267298	101267298	+	Missense_Mutation	SNP	G	G	C	rs186580198	byFrequency	TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr7:101267298G>C	ENST00000223167.4	-	3	352	c.175C>G	c.(175-177)Ctg>Gtg	p.L59V		NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN	myosin, light chain 10, regulatory	59						mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						gacagagccagactctgtcaa	0.502													G|||	22	0.00439297	0.0015	0.0058	5008	,	,		14497	0.0		0.0129	False		,,,				2504	0.0031				Esophageal Squamous(24;575 709 17516 40384 51639)											0													2	4	3					7																	101267298		450	613	1063	SO:0001583	missense	93408			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.175C>G	7.37:g.101267298G>C	ENSP00000223167:p.Leu59Val			Missense_Mutation	SNP	ENST00000223167.4	37	CCDS34713.1	9	0.004120879120879121	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	7	0.009234828496042216	G	2.238	-0.374445	0.05034	.	.	ENSG00000106436	ENST00000223167	T	0.23950	1.88	0.235	0.235	0.15431	.	.	.	.	.	T	0.18002	0.0432	M	0.72624	2.21	0.20563	N	0.999885	B	0.06786	0.001	B	0.01281	0.0	T	0.23440	-1.0188	8	0.33141	T	0.24	.	.	.	.	.	59	Q9BUA6	MYL10_HUMAN	V	59	ENSP00000223167:L59V	ENSP00000223167:L59V	L	-	1	2	MYL10	101054018	0.036000	0.19791	0.124000	0.21820	0.129000	0.20672	-0.572000	0.05881	0.308000	0.22923	0.313000	0.20887	CTG		0.502	MYL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347575.1	NM_138403		C	101267298	G	C	101267298	3	2	736	1	0	0	0	0	1	0	0	0	10046	933	33	4	529	4	MYL10	7	101267298	Missense_Mutation	SNP	G	TCGA-KN-8430-01A-11D-2310-10	2658169	101267298	57871365	43	42650											
SSPO	23145	broad.mit.edu;mdanderson.org	37	7	149480236	149480236	+	RNA	SNP	C	C	T			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr7:149480236C>T	ENST00000378016.2	+	0	2118							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)			ACCAGCAGGACGACTTCCTGA	0.592																																																0													97	102	100					7																	149480236		2179	4270	6449			23145			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149480236C>T			Q76B61	Silent	SNP	ENST00000378016.2	37																																																																																					0.592	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				T	149480236	C	T	149480236	1	4	736	0	1	0	0	0	0	0	0	0	15194	535	19	1		1	SSPO	7	149480236	RNA	SNP	C	TCGA-KN-8430-01A-11D-2310-10	48212938	149480236	9658427	44	42651											
NOM1	64434	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	7	156742689	156742689	+	Silent	SNP	G	G	A	rs375339990		TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr7:156742689G>A	ENST00000275820.3	+	1	273	c.258G>A	c.(256-258)agG>agA	p.R86R		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	86	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)		AGGAACTGAGGAAGGAGAAGC	0.701																																																0								G		2,3778		0,2,1888	5	7	6		258	-5	0.1	7		6	0,7658		0,0,3829	no	coding-synonymous	NOM1	NM_138400.1		0,2,5717	AA,AG,GG		0.0,0.0529,0.0175		86/861	156742689	2,11436	1890	3829	5719	SO:0001819	synonymous_variant	64434			AF107455	CCDS34787.1	7q36.3	2014-06-13	2005-03-30	2005-03-30	ENSG00000146909	ENSG00000146909			13244	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 113"	611269	"chromosome 7 open reading frame 3"	C7orf3		10329000	Standard	XM_005249560		Approved	SGD1, PPP1R113	uc003wmy.3	Q5C9Z4	OTTHUMG00000152639	ENST00000275820.3:c.258G>A	7.37:g.156742689G>A			Q96I08	Silent	SNP	ENST00000275820.3	37	CCDS34787.1																																																																																				0.701	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327098.1	NM_138400		A	156742689	G	A	156742689	2	1	736	1	0	0	0	0	0	0	0	1	10532	1165	41	2		2	NOM1	7	156742689	Silent	SNP	G	TCGA-KN-8430-01A-11D-2310-10	7262453	156742689	2395974	45	42652											
CLN8	2055	broad.mit.edu;hgsc.bcm.edu	37	8	1728652	1728652	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr8:1728652delG	ENST00000331222.4	+	3	1027	c.780delG	c.(778-780)ccgfs	p.P260fs	CLN8_ENST00000523237.1_3'UTR	NM_018941.3	NP_061764.2	Q9UBY8	CLN8_HUMAN	ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)	260	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				adult walking behavior (GO:0007628)|age-dependent response to oxidative stress (GO:0001306)|associative learning (GO:0008306)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|ceramide biosynthetic process (GO:0046513)|ceramide metabolic process (GO:0006672)|cholesterol metabolic process (GO:0008203)|L-glutamate uptake involved in synaptic transmission (GO:0051935)|lipid biosynthetic process (GO:0008610)|lipid transport (GO:0006869)|lysosome organization (GO:0007040)|mitochondrial membrane organization (GO:0007006)|musculoskeletal movement (GO:0050881)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteolysis (GO:0045861)|negative regulation of transferase activity (GO:0051348)|nervous system development (GO:0007399)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|phospholipid metabolic process (GO:0006644)|photoreceptor cell maintenance (GO:0045494)|protein catabolic process (GO:0030163)|regulation of cell size (GO:0008361)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic motor neuron differentiation (GO:0021523)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)		TTCTCAATCCGGTGGACTGGA	0.547																																					Pancreas(155;338 1942 6138 10888 50612)											0													117	117	117					8																	1728652		2203	4300	6503	SO:0001589	frameshift_variant	2055			AF123761	CCDS5956.1	8p23.3	2014-09-17			ENSG00000182372	ENSG00000182372			2079	protein-coding gene	gene with protein product		607837	"chromosome 8 open reading frame 61"	EPMR, C8orf61		10508524	Standard	NM_018941		Approved	FLJ39417	uc003wpo.4	Q9UBY8	OTTHUMG00000090343	ENST00000331222.4:c.780delG	8.37:g.1728652delG	ENSP00000328182:p.Pro260fs		Q86U71|Q96I95	Frame_Shift_Del	DEL	ENST00000331222.4	37	CCDS5956.1																																																																																				0.547	CLN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206715.2	NM_018941		-	1728652	G	-	1728652	7	5	736	1	0	1	0	1	0	0	0	0	3548	1103	39	0	786	0	CLN8	8	1728652	Frame_Shift_Del	DEL	G	TCGA-KN-8430-01A-11D-2310-10		1728652	144635370	46	42653	399	2									
CLN8	2055	bcgsc.ca	37	8	1728653	1728653	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr8:1728653delG	ENST00000331222.4	+	3	1028	c.781delG	c.(781-783)gtgfs	p.V261fs	CLN8_ENST00000523237.1_3'UTR	NM_018941.3	NP_061764.2	Q9UBY8	CLN8_HUMAN	ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)	261	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				adult walking behavior (GO:0007628)|age-dependent response to oxidative stress (GO:0001306)|associative learning (GO:0008306)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|ceramide biosynthetic process (GO:0046513)|ceramide metabolic process (GO:0006672)|cholesterol metabolic process (GO:0008203)|L-glutamate uptake involved in synaptic transmission (GO:0051935)|lipid biosynthetic process (GO:0008610)|lipid transport (GO:0006869)|lysosome organization (GO:0007040)|mitochondrial membrane organization (GO:0007006)|musculoskeletal movement (GO:0050881)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteolysis (GO:0045861)|negative regulation of transferase activity (GO:0051348)|nervous system development (GO:0007399)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|phospholipid metabolic process (GO:0006644)|photoreceptor cell maintenance (GO:0045494)|protein catabolic process (GO:0030163)|regulation of cell size (GO:0008361)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic motor neuron differentiation (GO:0021523)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)		TCTCAATCCGGTGGACTGGAA	0.552																																					Pancreas(155;338 1942 6138 10888 50612)											0													116	116	116					8																	1728653		2203	4300	6503	SO:0001589	frameshift_variant	2055			AF123761	CCDS5956.1	8p23.3	2014-09-17			ENSG00000182372	ENSG00000182372			2079	protein-coding gene	gene with protein product		607837	"chromosome 8 open reading frame 61"	EPMR, C8orf61		10508524	Standard	NM_018941		Approved	FLJ39417	uc003wpo.4	Q9UBY8	OTTHUMG00000090343	ENST00000331222.4:c.781delG	8.37:g.1728653delG	ENSP00000328182:p.Val261fs		Q86U71|Q96I95	Frame_Shift_Del	DEL	ENST00000331222.4	37	CCDS5956.1																																																																																				0.552	CLN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206715.2	NM_018941		-	1728653	G	-	1728653	7	5	736	1	0	1	0	1	0	0	0	0	3548	1261	44	0	787	0	CLN8	8	1728653	Frame_Shift_Del	DEL	G	TCGA-KN-8430-01A-11D-2310-10	1	1728653	144635369	47	42654	399	2									
MTMR9	66036	broad.mit.edu	37	8	11162509	11162509	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr8:11162509delA	ENST00000221086.3	+	4	1050	c.577delA	c.(577-579)aaafs	p.K194fs	MTMR9_ENST00000526292.1_Frame_Shift_Del_p.K109fs	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	194	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.			K -> R (in Ref. 2; BAA91170). {ECO:0000305}.		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)		CTATTACCACAAAAAAAATGG	0.453																																																0													97	82	87					8																	11162509		2203	4300	6503	SO:0001589	frameshift_variant	66036			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.577delA	8.37:g.11162509delA	ENSP00000221086:p.Lys194fs		B7Z291|Q52LU3|Q8WW11|Q96QG6|Q9NX50	Frame_Shift_Del	DEL	ENST00000221086.3	37	CCDS5979.1																																																																																				0.453	MTMR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207307.2	NM_015458		-	11162509	A	-	11162509	7	5	736	1	0	1	0	1	0	0	0	0	9952	131	5	0	591	0	MTMR9	8	11162509	Frame_Shift_Del	DEL	A	TCGA-KN-8430-01A-11D-2310-10	9433856	11162509	135201513	48	42655											
NSMAF	8439	bcgsc.ca	37	8	59512397	59512397	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr8:59512397G>T	ENST00000038176.3	-	18	1577	c.1365C>A	c.(1363-1365)agC>agA	p.S455R	NSMAF_ENST00000519858.1_5'Flank|NSMAF_ENST00000427130.2_Missense_Mutation_p.S486R	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	455	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.				ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				TGACTAGAAAGCTCACATCAT	0.438																																																0													84	84	84					8																	59512397		2203	4300	6503	SO:0001583	missense	8439			X96586	CCDS6173.1, CCDS47864.1	8q12-q13	2013-01-10			ENSG00000035681	ENSG00000035681		"WD repeat domain containing"	8017	protein-coding gene	gene with protein product		603043				8808629, 10640829	Standard	NM_003580		Approved	FAN	uc011lee.2	Q92636	OTTHUMG00000164352	ENST00000038176.3:c.1365C>A	8.37:g.59512397G>T	ENSP00000038176:p.Ser455Arg		B4DFB0|E9PCH0|Q8IW26	Missense_Mutation	SNP	ENST00000038176.3	37	CCDS6173.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.821634	0.50633	.	.	ENSG00000035681	ENST00000038176;ENST00000427130	T;T	0.80480	-1.38;-1.38	6.08	6.08	0.98989	BEACH domain (4);	0.115644	0.85682	D	0.000000	T	0.79269	0.4417	M	0.72894	2.215	0.47374	D	0.999403	B;B	0.18610	0.029;0.02	B;B	0.21917	0.022;0.037	T	0.72381	-0.4311	9	.	.	.	.	13.2481	0.60033	0.1122:0.0:0.8878:0.0	.	486;455	Q92636-2;Q92636	.;FAN_HUMAN	R	455;486	ENSP00000038176:S455R;ENSP00000411012:S486R	.	S	-	3	2	NSMAF	59674951	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.236000	0.51336	2.894000	0.99253	0.591000	0.81541	AGC		0.438	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378384.1	NM_003580		T	59512397	G	T	59512397	3	4	736	1	0	0	0	0	1	0	0	0	10676	962	34	4	1444	4	NSMAF	8	59512397	Missense_Mutation	SNP	G	TCGA-KN-8430-01A-11D-2310-10	48349888	59512397	86851625	49	42656											
SLC26A7	115111	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	8	92378833	92378833	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr8:92378833T>C	ENST00000276609.3	+	14	1753	c.1514T>C	c.(1513-1515)aTc>aCc	p.I505T	SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000523719.1_Missense_Mutation_p.I505T|SLC26A7_ENST00000309536.2_Missense_Mutation_p.I505T	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7											breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			GTGAAAATTATCTCAATAAAC	0.328																																																0													45	49	47					8																	92378833		2203	4300	6503	SO:0001583	missense	115111			AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"Solute carriers"	14467	protein-coding gene	gene with protein product		608479	"solute carrier family 26, member 7"			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.1514T>C	8.37:g.92378833T>C	ENSP00000276609:p.Ile505Thr			Missense_Mutation	SNP	ENST00000276609.3	37	CCDS6254.1	.	.	.	.	.	.	.	.	.	.	T	15.13	2.741478	0.49151	.	.	ENSG00000147606	ENST00000523719;ENST00000276609;ENST00000309536	D;D;D	0.88818	-2.43;-2.43;-2.43	5.33	5.33	0.75918	Sulphate transporter/antisigma-factor antagonist STAS (4);	0.224247	0.31760	N	0.007101	D	0.85457	0.5701	L	0.57536	1.79	0.32391	N	0.553211	P;B	0.35272	0.493;0.324	B;B	0.28385	0.053;0.089	D	0.89445	0.3726	10	0.87932	D	0	.	12.8205	0.57690	0.0:0.0:0.0:1.0	.	505;505	Q8TE54-2;Q8TE54	.;S26A7_HUMAN	T	505	ENSP00000428849:I505T;ENSP00000276609:I505T;ENSP00000309504:I505T	ENSP00000276609:I505T	I	+	2	0	SLC26A7	92448009	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.465000	0.60141	2.025000	0.59659	0.533000	0.62120	ATC		0.328	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1			C	92378833	T	C	92378833	3	2	736	1	0	0	0	0	1	0	0	0	14528	1435	50	3	1564	3	SLC26A7	8	92378833	Missense_Mutation	SNP	T	TCGA-KN-8430-01A-11D-2310-10	32866436	92378833	53985189	50	42657											
C8orf85	441376	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	8	117954928	117954928	+	Silent	SNP	G	G	A			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr8:117954928G>A	ENST00000378279.3	+	2	501	c.456G>A	c.(454-456)gcG>gcA	p.A152A	AARD_ENST00000523536.1_3'UTR	NM_001025357.2	NP_001020528.1	Q4LEZ3	AARD_HUMAN	alanine and arginine rich domain containing protein	152					lung development (GO:0030324)												ATGATGCTGCGAATCCGGAAT	0.502																																																0													68	63	65					8																	117954928		2203	4300	6503	SO:0001819	synonymous_variant	441376			AB181519, BC140924	CCDS34935.1	8q24.11	2012-04-19	2012-04-19	2012-04-19	ENSG00000205002	ENSG00000205002			33842	protein-coding gene	gene with protein product	"Alanine and arginine-rich domain-containing protein"		"chromosome 8 open reading frame 85"	C8orf85			Standard	NM_001025357		Approved	LOC441376	uc003yof.3	Q4LEZ3	OTTHUMG00000164961	ENST00000378279.3:c.456G>A	8.37:g.117954928G>A			A5PKU8	Silent	SNP	ENST00000378279.3	37	CCDS34935.1																																																																																				0.502	AARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381195.1	NM_001025357		A	117954928	G	A	117954928	2	1	736	1	0	0	0	0	0	0	0	1	2443	1045	37	1		1	C8orf85	8	117954928	Silent	SNP	G	TCGA-KN-8430-01A-11D-2310-10	25576095	117954928	28409094	51	42658											
RHPN1	114822	broad.mit.edu	37	8	144462920	144462920	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr8:144462920T>C	ENST00000289013.6	+	11	1479	c.1378T>C	c.(1378-1380)Ttc>Ctc	p.F460L		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	485	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)			TGAGGATGACTTCTGTGAGGC	0.672																																																0													20	24	22					8																	144462920		2120	4235	6355	SO:0001583	missense	114822			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.1378T>C	8.37:g.144462920T>C	ENSP00000289013:p.Phe460Leu		Q8TAV1|Q96PV9	Missense_Mutation	SNP	ENST00000289013.6	37	CCDS47927.1	.	.	.	.	.	.	.	.	.	.	T	10.45	1.354829	0.24512	.	.	ENSG00000158106	ENST00000289013	T	0.17691	2.26	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.33498	0.0865	L	0.51914	1.62	0.49687	D	0.999819	D	0.89917	1.0	D	0.87578	0.998	T	0.02539	-1.1144	10	0.28530	T	0.3	-13.6319	13.1807	0.59653	0.0:0.0:0.0:1.0	.	460	Q8TCX5-2	.	L	460	ENSP00000289013:F460L	ENSP00000289013:F460L	F	+	1	0	RHPN1	144534063	1.000000	0.71417	0.998000	0.56505	0.091000	0.18340	7.502000	0.81614	1.712000	0.51347	0.260000	0.18958	TTC		0.672	RHPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381417.1			C	144462920	T	C	144462920	3	2	736	1	0	0	0	0	1	0	0	0	13356	1609	56	3	1420	3	RHPN1	8	144462920	Missense_Mutation	SNP	T	TCGA-KN-8430-01A-11D-2310-10	26507992	144462920	1901102	52	42659											
IFNA21	3452	mdanderson.org	37	9	21166520	21166520	+	Missense_Mutation	SNP	C	C	G	rs140583107		TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr9:21166520C>G	ENST00000380225.1	-	1	139	c.92G>C	c.(91-93)aGc>aCc	p.S31T		NM_002175.2	NP_002166.2	P01568	IFN21_HUMAN	interferon, alpha 21	31					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)		ATTACCCAGGCTGTGGGTCTG	0.522													C|||	1	0.000199681	0.0	0.0	5008	,	,		20238	0.0		0.0	False		,,,				2504	0.001															0													58	62	61					9																	21166520		2202	4280	6482	SO:0001583	missense	3452				CCDS6497.1	9p22	2010-12-10			ENSG00000137080	ENSG00000137080		"Interferons"	5424	protein-coding gene	gene with protein product	"leukocyte interferon protein"	147584				1385305	Standard	NM_002175		Approved	IFN-alphaI	uc003zom.2	P01568	OTTHUMG00000019653	ENST00000380225.1:c.92G>C	9.37:g.21166520C>G	ENSP00000369574:p.Ser31Thr		Q14608|Q5VWD1|Q7M4Q4	Missense_Mutation	SNP	ENST00000380225.1	37	CCDS6497.1	.	.	.	.	.	.	.	.	.	.	N	4.824	0.153276	0.09185	.	.	ENSG00000137080	ENST00000380225	T	0.03413	3.94	3.16	-1.15	0.09709	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.796247	0.11535	N	0.554284	T	0.04182	0.0116	M	0.72118	2.19	0.09310	N	1	B	0.10296	0.003	B	0.23018	0.043	T	0.47573	-0.9107	10	0.20519	T	0.43	.	0.656	0.00834	0.1988:0.3809:0.1955:0.2248	.	31	P01568	IFN21_HUMAN	T	31	ENSP00000369574:S31T	ENSP00000369574:S31T	S	-	2	0	IFNA21	21156520	0.000000	0.05858	0.000000	0.03702	0.143000	0.21401	-0.915000	0.04033	-0.239000	0.09710	0.644000	0.83932	AGC		0.522	IFNA21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051882.1	NM_002175		G	21166520	C	G	21166520	3	3	736	1	0	0	0	0	1	0	0	0	7540	797	28	4	481	4	IFNA21	9	21166520	Missense_Mutation	SNP	C	TCGA-KN-8430-01A-11D-2310-10		21166520	120046911	53	42660											
FKTN	2218	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	9	108358893	108358893	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr9:108358893G>T	ENST00000223528.2	+	3	244	c.120G>T	c.(118-120)ttG>ttT	p.L40F	FKTN_ENST00000540160.1_Missense_Mutation_p.L40F|FKTN_ENST00000357998.5_Missense_Mutation_p.L40F|FKTN_ENST00000448551.2_Missense_Mutation_p.L40F|FKTN_ENST00000602661.1_Missense_Mutation_p.L40F|FKTN_ENST00000490134.1_3'UTR	NM_006731.2	NP_006722.2	O75072	FKTN_HUMAN	fukutin	40					muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|nervous system development (GO:0007399)|regulation of protein glycosylation (GO:0060049)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transferase activity (GO:0016740)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						GAGCTGGTTTGTCAAAATCCA	0.323																																																0													90	91	90					9																	108358893		2203	4300	6503	SO:0001583	missense	2218				CCDS6766.1	9q31-q33	2014-09-17	2007-11-21	2007-11-21	ENSG00000106692	ENSG00000106692			3622	protein-coding gene	gene with protein product		607440	"Fukuyama type congenital muscular dystrophy (fukutin)"	FCMD		8275093, 17036286, 17044012	Standard	NM_001079802		Approved	LGMD2M	uc004bcs.3	O75072	OTTHUMG00000020425	ENST00000223528.2:c.120G>T	9.37:g.108358893G>T	ENSP00000223528:p.Leu40Phe		B4DUX9|J3KP13|Q3MIJ1|Q96TE1|Q9P295	Missense_Mutation	SNP	ENST00000223528.2	37	CCDS6766.1	.	.	.	.	.	.	.	.	.	.	G	11.37	1.617468	0.28801	.	.	ENSG00000106692	ENST00000223528;ENST00000448551;ENST00000540160;ENST00000357998	D;D;D;D	0.91068	-2.45;-2.78;-1.59;-2.78	5.83	3.16	0.36331	.	0.412429	0.26345	N	0.024912	T	0.74015	0.3661	N	0.04880	-0.145	0.23341	N	0.997877	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.09377	0.004;0.001;0.0	T	0.58967	-0.7542	10	0.30078	T	0.28	-4.1447	1.2504	0.01981	0.5098:0.1362:0.1005:0.2535	.	40;40;40	B4E2W4;B4DUX9;O75072	.;.;FKTN_HUMAN	F	40	ENSP00000223528:L40F;ENSP00000399140:L40F;ENSP00000439423:L40F;ENSP00000350687:L40F	ENSP00000223528:L40F	L	+	3	2	FKTN	107398714	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.290000	0.33319	0.912000	0.36772	-0.218000	0.12543	TTG		0.323	FKTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053505.1	NM_006731		T	108358893	G	T	108358893	3	4	736	1	0	0	0	0	1	0	0	0	5921	1368	48	4	126	4	FKTN	9	108358893	Missense_Mutation	SNP	G	TCGA-KN-8430-01A-11D-2310-10	87192373	108358893	32854538	54	42661											
RC3H2	54542	bcgsc.ca	37	9	125639808	125639808	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr9:125639808C>T	ENST00000373670.1	-	8	1867	c.1267G>A	c.(1267-1269)Ggg>Agg	p.G423R	RC3H2_ENST00000357244.2_Missense_Mutation_p.G423R|RC3H2_ENST00000335387.5_Missense_Mutation_p.G423R|RC3H2_ENST00000423239.2_Missense_Mutation_p.G423R|SNORD90_ENST00000391145.1_RNA|RC3H2_ENST00000373665.2_Missense_Mutation_p.G423R			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	423					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						GGACAACCCCCTTGCTGTCGC	0.418																																																0													276	270	272					9																	125639808		1898	4121	6019	SO:0001583	missense	54542			AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"RING-type (C3HC4) zinc fingers", "Zinc fingers, CCCH-type domain containing"	21461	protein-coding gene	gene with protein product		615231	"membrane associated DNA binding protein", "ring finger and CCCH-type zinc finger domains 2"	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.1267G>A	9.37:g.125639808C>T	ENSP00000362774:p.Gly423Arg		Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Missense_Mutation	SNP	ENST00000373670.1	37	CCDS43874.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.810872	0.90707	.	.	ENSG00000056586	ENST00000373670;ENST00000357244;ENST00000373663;ENST00000423239;ENST00000373665;ENST00000335387	T;T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97;-0.97	5.54	5.54	0.83059	Zinc finger, CCCH-type (3);	0.109140	0.64402	N	0.000006	D	0.84660	0.5521	M	0.69463	2.115	0.54753	D	0.999985	B;D;D;D	0.76494	0.329;0.988;0.999;0.998	B;D;D;D	0.70487	0.327;0.954;0.969;0.948	T	0.82774	-0.0291	10	0.35671	T	0.21	-10.2029	18.4783	0.90800	0.0:1.0:0.0:0.0	.	423;294;423;423	A6NHN2;Q4VXB0;Q9HBD1;Q9HBD1-4	.;.;RC3H2_HUMAN;.	R	423;423;294;423;423;423	ENSP00000362774:G423R;ENSP00000349783:G423R;ENSP00000411767:G423R;ENSP00000362769:G423R;ENSP00000335150:G423R	ENSP00000335150:G423R	G	-	1	0	RC3H2	124679629	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.043000	0.71004	2.627000	0.88993	0.637000	0.83480	GGG		0.418	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053966.1	NM_018835		T	125639808	C	T	125639808	3	4	736	1	0	0	0	0	1	0	0	0	13173	681	24	2	2438	2	RC3H2	9	125639808	Missense_Mutation	SNP	C	TCGA-KN-8430-01A-11D-2310-10	17280915	125639808	15573623	55	42662											
LAMC3	10319	bcgsc.ca	37	9	133951292	133951292	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr9:133951292T>C	ENST00000361069.4	+	21	3702	c.3569T>C	c.(3568-3570)cTt>cCt	p.L1190P	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1190	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)		AGCTACGCGCTTCTCTGGAAT	0.627																																																0													51	45	47					9																	133951292		2203	4300	6503	SO:0001583	missense	10319			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.3569T>C	9.37:g.133951292T>C	ENSP00000354360:p.Leu1190Pro		B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	ENST00000361069.4	37	CCDS6938.1	.	.	.	.	.	.	.	.	.	.	T	15.53	2.859643	0.51376	.	.	ENSG00000050555	ENST00000361069;ENST00000355048	T	0.31247	1.5	5.03	5.03	0.67393	.	0.073516	0.56097	D	0.000025	T	0.52964	0.1767	M	0.72118	2.19	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	T	0.56323	-0.7998	10	0.62326	D	0.03	.	12.8413	0.57805	0.0:0.0:0.0:1.0	.	1190	Q9Y6N6	LAMC3_HUMAN	P	1190	ENSP00000354360:L1190P	ENSP00000347156:L1190P	L	+	2	0	LAMC3	132941113	0.937000	0.31787	0.601000	0.28877	0.099000	0.18886	2.761000	0.47589	2.027000	0.59764	0.397000	0.26171	CTT		0.627	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		C	133951292	T	C	133951292	3	2	736	1	0	0	0	0	1	0	0	0	8618	1609	56	3	3651	3	LAMC3	9	133951292	Missense_Mutation	SNP	T	TCGA-KN-8430-01A-11D-2310-10	8311484	133951292	7262139	56	42663											
FRG2B	441581	mdanderson.org	37	10	135438998	135438998	+	Missense_Mutation	SNP	G	G	T	rs200937977		TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr10:135438998G>T	ENST00000425520.1	-	4	494	c.442C>A	c.(442-444)Cgt>Agt	p.R148S	FRG2B_ENST00000443774.1_Missense_Mutation_p.R149S	NM_001080998.1	NP_001074467.1	Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	148						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)		GCCCTGGAACGTCCCCTATGG	0.527																																																0													114	128	123					10																	135438998		2199	4299	6498	SO:0001583	missense	441581			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.442C>A	10.37:g.135438998G>T	ENSP00000401310:p.Arg148Ser		Q5VSQ1	Missense_Mutation	SNP	ENST00000425520.1	37	CCDS44502.1	.	.	.	.	.	.	.	.	.	.	.	1.237	-0.622516	0.03636	.	.	ENSG00000225899	ENST00000443774;ENST00000425520	T;T	0.43688	0.94;0.94	.	.	.	.	2.267060	0.02456	N	0.086049	T	0.27933	0.0688	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16808	-1.0390	8	0.36615	T	0.2	0.3215	.	.	.	.	148	Q96QU4	FRG2B_HUMAN	S	149;148	ENSP00000408343:R149S;ENSP00000401310:R148S	ENSP00000401310:R148S	R	-	1	0	FRG2B	135288988	0.004000	0.15560	0.164000	0.22755	0.165000	0.22458	-0.657000	0.05335	0.119000	0.18210	0.121000	0.15741	CGT		0.527	FRG2B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467780.1	NM_001080998		T	135438998	G	T	135438998	3	4	736	1	0	0	0	0	1	0	0	0	6049	1145	40	4	397	4	FRG2B	10	135438998	Missense_Mutation	SNP	G	TCGA-KN-8430-01A-11D-2310-10		135438998	95749	57	42664											
FRG2B	441581	mdanderson.org	37	10	135439079	135439079	+	Missense_Mutation	SNP	A	A	T	rs201410894		TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr10:135439079A>T	ENST00000425520.1	-	4	413	c.361T>A	c.(361-363)Tca>Aca	p.S121T	FRG2B_ENST00000443774.1_Missense_Mutation_p.S122T	NM_001080998.1	NP_001074467.1	Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	121						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)		TTATTCAATGACAAGCTGCAC	0.512																																																0													31	38	36					10																	135439079		2125	4248	6373	SO:0001583	missense	441581			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.361T>A	10.37:g.135439079A>T	ENSP00000401310:p.Ser121Thr		Q5VSQ1	Missense_Mutation	SNP	ENST00000425520.1	37	CCDS44502.1	.	.	.	.	.	.	.	.	.	.	.	0.001	-3.722229	0.00005	.	.	ENSG00000225899	ENST00000443774;ENST00000425520	T;T	0.42900	0.96;0.96	.	.	.	.	.	.	.	.	T	0.09774	0.0240	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15321	-1.0441	7	0.02654	T	1	-1.6731	.	.	.	.	121	Q96QU4	FRG2B_HUMAN	T	122;121	ENSP00000408343:S122T;ENSP00000401310:S121T	ENSP00000401310:S121T	S	-	1	0	FRG2B	135289069	0.000000	0.05858	0.039000	0.18376	0.039000	0.13416	-0.790000	0.04604	-1.869000	0.01141	-1.957000	0.00481	TCA		0.512	FRG2B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467780.1	NM_001080998		T	135439079	A	T	135439079	3	4	736	1	0	0	0	0	1	0	0	0	6049	275	10	5	478	5	FRG2B	10	135439079	Missense_Mutation	SNP	A	TCGA-KN-8430-01A-11D-2310-10	81	135439079	95668	58	42665											
MUC6	4588	mdanderson.org	37	11	1018169	1018169	+	Silent	SNP	C	C	G	rs111749447|rs77647814	byFrequency	TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr11:1018169C>G	ENST00000421673.2	-	31	4682	c.4632G>C	c.(4630-4632)acG>acC	p.T1544T		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1544	Pro-rich.|Thr-rich.			T -> S (in Ref. 2; AAQ82434). {ECO:0000305}.	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)		TGGGAGTAATCGTGGTAGTAG	0.552																																																0													238	243	241					11																	1018169		2145	4235	6380	SO:0001819	synonymous_variant	4588			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.4632G>C	11.37:g.1018169C>G			O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	CCDS44513.1																																																																																				0.552	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		G	1018169	C	G	1018169	2	3	736	1	0	0	0	0	0	0	0	1	9982	871	31	4		4	MUC6	11	1018169	Silent	SNP	C	TCGA-KN-8430-01A-11D-2310-10		1018169	133988347	59	42666											
MUC6	4588	mdanderson.org	37	11	1018348	1018348	+	Missense_Mutation	SNP	G	G	A	rs202193006		TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr11:1018348G>A	ENST00000421673.2	-	31	4503	c.4453C>T	c.(4453-4455)Cct>Tct	p.P1485S		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1485	Pro-rich.|Thr-rich.				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)		GTTGGTGGAGGAATGGTACCT	0.592																																																0													254	257	256					11																	1018348		2184	4263	6447	SO:0001583	missense	4588			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.4453C>T	11.37:g.1018348G>A	ENSP00000406861:p.Pro1485Ser		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	4.529	0.098268	0.08681	.	.	ENSG00000184956	ENST00000421673	T	0.17054	2.3	2.28	-0.0764	0.13723	.	.	.	.	.	T	0.15089	0.0364	L	0.58101	1.795	0.09310	N	1	B	0.26809	0.16	B	0.20577	0.03	T	0.31530	-0.9940	9	0.19590	T	0.45	.	9.5843	0.39506	0.0:0.4031:0.5969:0.0	.	1485	Q6W4X9	MUC6_HUMAN	S	1485	ENSP00000406861:P1485S	ENSP00000406861:P1485S	P	-	1	0	MUC6	1008348	0.000000	0.05858	0.000000	0.03702	0.108000	0.19459	0.135000	0.15952	-0.162000	0.10964	0.313000	0.20887	CCT		0.592	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		A	1018348	G	A	1018348	3	1	736	1	0	0	0	0	1	0	0	0	9982	1174	41	2	2878	2	MUC6	11	1018348	Missense_Mutation	SNP	G	TCGA-KN-8430-01A-11D-2310-10	179	1018348	133988168	60	42667											
MUC2	4583	broad.mit.edu	37	11	1092953	1092953	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr11:1092953C>T	ENST00000441003.2	+	30	4799	c.4772C>T	c.(4771-4773)aCg>aTg	p.T1591M	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000359061.5_Splice_Site_p.T1592M	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				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)		p.T1592M(1)|p.T1591M(1)		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)	accaccactacggtgacccca	0.627																																																2	Substitution - Missense(2)	endometrium(2)											54	86	74					11																	1092953		1812	3313	5125	SO:0001583	missense	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.4772C>T	11.37:g.1092953C>T	ENSP00000415183:p.Thr1591Met		Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	C	3.179	-0.168424	0.06461	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.16743	2.32;2.56	1.75	-0.619	0.11572	.	6.725620	0.00827	U	0.001636	T	0.08846	0.0219	.	.	.	0.09310	N	1	D	0.60575	0.988	B	0.34489	0.184	T	0.24548	-1.0157	9	0.32370	T	0.25	.	3.3423	0.07123	0.2481:0.5888:0.0:0.163	.	1591	E7EUV1	.	M	1591;1592	ENSP00000415183:T1591M;ENSP00000351956:T1592M	ENSP00000351956:T1592M	T	+	2	0	MUC2	1082953	0.064000	0.20934	0.000000	0.03702	0.189000	0.23516	1.615000	0.36922	-0.313000	0.08728	0.121000	0.15741	ACG		0.627	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		T	1092953	C	T	1092953	3	4	736	1	0	0	0	0	1	0	0	0	9977	536	19	1	4890	1	MUC2	11	1092953	Missense_Mutation	SNP	C	TCGA-KN-8430-01A-11D-2310-10	74605	1092953	133913563	61	42668											
MUC2	4583	mdanderson.org	37	11	1093047	1093047	+	Silent	SNP	T	T	C	rs12575208		TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr11:1093047T>C	ENST00000441003.2	+	30	4893	c.4866T>C	c.(4864-4866)acT>acC	p.T1622T	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000359061.5_Intron	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				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)	caacacccactggcacacaga	0.632																																																0													129	166	153					11																	1093047		1887	3615	5502	SO:0001819	synonymous_variant	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.4866T>C	11.37:g.1093047T>C			Q14878	Silent	SNP	ENST00000441003.2	37																																																																																					0.632	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		C	1093047	T	C	1093047	2	2	736	1	0	0	0	0	0	0	0	1	9977	1567	55	3		3	MUC2	11	1093047	Silent	SNP	T	TCGA-KN-8430-01A-11D-2310-10	94	1093047	133913469	62	42669											
WEE1	7465	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	11	9610060	9610060	+	Missense_Mutation	SNP	A	A	T			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr11:9610060A>T	ENST00000450114.2	+	11	2105	c.1852A>T	c.(1852-1854)Atg>Ttg	p.M618L	WEE1_ENST00000299613.6_Missense_Mutation_p.M404L	NM_003390.3	NP_003381.1	P30291	WEE1_HUMAN	WEE1 G2 checkpoint kinase	618					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)			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)		CACTGACCGGATGGCCACTAG	0.428																																																0													138	133	135					11																	9610060		2201	4294	6495	SO:0001583	missense	7465			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.1852A>T	11.37:g.9610060A>T	ENSP00000402084:p.Met618Leu		B3KVE1|D3DQV0	Missense_Mutation	SNP	ENST00000450114.2	37	CCDS7800.1	.	.	.	.	.	.	.	.	.	.	A	10.04	1.242223	0.22796	.	.	ENSG00000166483	ENST00000450114;ENST00000299613;ENST00000527848	T;T;T	0.51574	0.83;0.7;0.99	5.31	5.31	0.75309	Protein kinase-like domain (1);	0.105878	0.64402	D	0.000003	T	0.23370	0.0565	N	0.08118	0	0.33277	D	0.561807	B	0.10296	0.003	B	0.04013	0.001	T	0.26573	-1.0099	10	0.07482	T	0.82	-15.606	9.7489	0.40464	0.9229:0.0:0.0771:0.0	.	618	P30291	WEE1_HUMAN	L	618;404;70	ENSP00000402084:M618L;ENSP00000299613:M404L;ENSP00000432284:M70L	ENSP00000299613:M404L	M	+	1	0	WEE1	9566636	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.551000	0.53698	2.014000	0.59158	0.460000	0.39030	ATG		0.428	WEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386757.1	NM_003390		T	9610060	A	T	9610060	3	4	736	1	0	0	0	0	1	0	0	0	17349	333	12	5	1894	5	WEE1	11	9610060	Missense_Mutation	SNP	A	TCGA-KN-8430-01A-11D-2310-10	8517013	9610060	125396456	63	42670											
CD44	960	broad.mit.edu;bcgsc.ca	37	11	35226107	35226107	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr11:35226107A>G	ENST00000428726.2	+	10	1325	c.1202A>G	c.(1201-1203)gAa>gGa	p.E401G	CD44_ENST00000433892.2_Intron|CD44_ENST00000360158.4_Intron|CD44_ENST00000415148.2_Missense_Mutation_p.E358G|CD44_ENST00000433354.2_Missense_Mutation_p.E402G|CD44_ENST00000278386.6_Intron|CD44_ENST00000449691.2_Intron|CD44_ENST00000352818.4_Intron|CD44_ENST00000263398.6_Intron|CD44_ENST00000434472.2_Intron|CD44_ENST00000437706.2_Missense_Mutation_p.E401G|CD44_ENST00000526669.2_Intron	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	401	Stem.				blood coagulation (GO:0007596)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|monocyte aggregation (GO:0070487)|negative regulation of apoptotic process (GO:0043066)|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 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|Wnt signaling pathway (GO:0016055)|wound healing involved in inflammatory response (GO:0002246)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronan(DB08818)	ACCCAGAAGGAACAGTGGTTT	0.453																																																0													170	143	152					11																	35226107		2202	4298	6500	SO:0001583	missense	960			M59040	CCDS7897.1, CCDS31455.1, CCDS31456.1, CCDS31457.1, CCDS31458.1, CCDS55754.1, CCDS55755.1	11p13	2014-07-18	2006-03-28		ENSG00000026508	ENSG00000026508		"CD molecules", "Blood group antigens", "Proteoglycans / Cell surface : Other"	1681	protein-coding gene	gene with protein product	"hematopoietic cell E- and L-selectin ligand", "chondroitin sulfate proteoglycan 8"	107269	"CD44 antigen (homing function and Indian blood group system)"	MIC4, MDU2, MDU3		2454887	Standard	NM_001202555		Approved	IN, MC56, Pgp1, CD44R, HCELL, CSPG8	uc001mvu.3	P16070	OTTHUMG00000044388	ENST00000428726.2:c.1202A>G	11.37:g.35226107A>G	ENSP00000398632:p.Glu401Gly		A5YRN9|B6EAT9|D3DR12|D3DR13|O95370|P22511|Q04858|Q13419|Q13957|Q13958|Q13959|Q13960|Q13961|Q13967|Q13968|Q13980|Q15861|Q16064|Q16065|Q16066|Q16208|Q16522|Q86T72|Q86Z27|Q8N694|Q92493|Q96J24|Q9H5A5|Q9UC28|Q9UC29|Q9UC30|Q9UCB0|Q9UJ36	Missense_Mutation	SNP	ENST00000428726.2	37	CCDS7897.1	.	.	.	.	.	.	.	.	.	.	A	11.85	1.761218	0.31137	.	.	ENSG00000026508	ENST00000415148;ENST00000433354;ENST00000437706;ENST00000428726;ENST00000531110;ENST00000528672	T;T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86;1.86	5.05	3.94	0.45596	.	0.251258	0.28307	N	0.015828	T	0.43166	0.1235	M	0.72118	2.19	0.22017	N	0.999417	P;D	0.71674	0.728;0.998	B;D	0.72982	0.425;0.979	T	0.18493	-1.0335	10	0.40728	T	0.16	-18.3994	6.7294	0.23375	0.8981:0.0:0.1019:0.0	.	358;401	P16070-4;P16070	.;CD44_HUMAN	G	358;402;401;401;113;53	ENSP00000389830:E358G;ENSP00000414567:E402G;ENSP00000403990:E401G;ENSP00000398632:E401G;ENSP00000436549:E113G;ENSP00000431860:E53G	ENSP00000389830:E358G	E	+	2	0	CD44	35182683	0.806000	0.28996	0.621000	0.29145	0.003000	0.03518	3.848000	0.55903	2.199000	0.70637	0.533000	0.62120	GAA		0.453	CD44-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388927.1	NM_000610		G	35226107	A	G	35226107	3	3	736	1	0	0	0	0	1	0	0	0	3019	246	9	3	1240	3	CD44	11	35226107	Missense_Mutation	SNP	A	TCGA-KN-8430-01A-11D-2310-10	25616047	35226107	99780409	64	42671											
SIPA1	6494	broad.mit.edu;bcgsc.ca	37	11	65409950	65409950	+	Missense_Mutation	SNP	G	G	C			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr11:65409950G>C	ENST00000394224.3	+	4	1120	c.824G>C	c.(823-825)gGc>gCc	p.G275A	SIPA1_ENST00000527525.1_Missense_Mutation_p.G275A|SIPA1_ENST00000394227.3_Missense_Mutation_p.G275A|SIPA1_ENST00000534313.1_Missense_Mutation_p.G275A	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	275					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						ACACTCCGTGGCACCATCTCG	0.682																																																0													25	24	25					11																	65409950		2201	4295	6496	SO:0001583	missense	6494			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.824G>C	11.37:g.65409950G>C	ENSP00000377771:p.Gly275Ala		O14518|O60484|O60618|Q2YD83	Missense_Mutation	SNP	ENST00000394224.3	37	CCDS8108.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.073406	0.76415	.	.	ENSG00000213445	ENST00000534313;ENST00000527525;ENST00000394224;ENST00000394227	D;D;D;D	0.93811	-3.29;-3.29;-3.29;-3.29	4.0	4.0	0.46444	.	0.000000	0.50627	U	0.000103	D	0.96476	0.8850	M	0.84219	2.685	0.58432	D	0.999994	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.995	D	0.96844	0.9620	10	0.72032	D	0.01	-23.9387	13.9767	0.64277	0.0:0.0:1.0:0.0	.	275;275	F6RY50;Q96FS4	.;SIPA1_HUMAN	A	275	ENSP00000436269:G275A;ENSP00000433686:G275A;ENSP00000377771:G275A;ENSP00000377774:G275A	ENSP00000377771:G275A	G	+	2	0	SIPA1	65166526	1.000000	0.71417	1.000000	0.80357	0.335000	0.28730	7.634000	0.83273	2.240000	0.73641	0.455000	0.32223	GGC		0.682	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390356.1	NM_006747		C	65409950	G	C	65409950	3	2	736	1	0	0	0	0	1	0	0	0	14334	1203	42	4	834	4	SIPA1	11	65409950	Missense_Mutation	SNP	G	TCGA-KN-8430-01A-11D-2310-10	30183843	65409950	69596566	65	42672											
MYO7A	4647	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	11	76917244	76917244	+	Missense_Mutation	SNP	C	C	G	rs375992788		TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr11:76917244C>G	ENST00000409709.3	+	41	6011	c.5739C>G	c.(5737-5739)gaC>gaG	p.D1913E	MYO7A_ENST00000409619.2_Missense_Mutation_p.D1864E|MYO7A_ENST00000458637.2_Missense_Mutation_p.D1875E|MYO7A_ENST00000605744.1_3'UTR	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1913	FERM 2. {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						ATGACACTGACGAGGTGAGGG	0.607																																																0													70	77	75					11																	76917244		1972	4145	6117	SO:0001583	missense	4647			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.5739C>G	11.37:g.76917244C>G	ENSP00000386331:p.Asp1913Glu		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	37	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	c	11.46	1.646762	0.29246	.	.	ENSG00000137474	ENST00000409709;ENST00000458637;ENST00000409619;ENST00000545136;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000458169;ENST00000544424	T;T;T;T	0.74947	-0.89;-0.89;-0.89;-0.89	4.54	-3.63	0.04529	Band 4.1 domain (1);FERM domain (1);	0.000000	0.85682	U	0.000000	T	0.79633	0.4479	M	0.66939	2.045	0.80722	D	1	B;D	0.76494	0.174;0.999	B;D	0.69654	0.132;0.965	T	0.77259	-0.2654	10	0.38643	T	0.18	.	12.1312	0.53944	0.0:0.2909:0.0:0.7091	.	1875;1913	F8VUN5;Q13402	.;MYO7A_HUMAN	E	1913;1875;1864;1086;1912;1882;1789;1055;528	ENSP00000386331:D1913E;ENSP00000392185:D1875E;ENSP00000386635:D1864E;ENSP00000417017:D1055E	ENSP00000345075:D1789E	D	+	3	2	MYO7A	76594892	0.116000	0.22171	0.565000	0.28409	0.133000	0.20885	-0.586000	0.05787	-0.625000	0.05604	-0.299000	0.09455	GAC		0.607	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		G	76917244	C	G	76917244	3	3	736	1	0	0	0	0	1	0	0	0	10084	535	19	4	5931	4	MYO7A	11	76917244	Missense_Mutation	SNP	C	TCGA-KN-8430-01A-11D-2310-10	11507294	76917244	58089272	66	42673											
FAT3	120114	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	11	92543184	92543184	+	Nonsense_Mutation	SNP	T	T	A			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr11:92543184T>A	ENST00000298047.6	+	12	9440	c.9423T>A	c.(9421-9423)taT>taA	p.Y3141*	FAT3_ENST00000409404.2_Nonsense_Mutation_p.Y3141*|FAT3_ENST00000525166.1_Nonsense_Mutation_p.Y2991*			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3141	Cadherin 29. {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)				CCTGTGTCTATGAGAACACAG	0.527										TCGA Ovarian(4;0.039)																																						0													58	59	59					11																	92543184		1943	4133	6076	SO:0001587	stop_gained	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.9423T>A	11.37:g.92543184T>A	ENSP00000298047:p.Tyr3141*		B5MDB0|Q96AU6	Nonsense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	T	51	17.442473	0.99886	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	.	.	.	5.16	2.85	0.33270	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.2732	0.31857	0.0:0.229:0.0:0.771	.	.	.	.	X	3141;3141;2991	.	ENSP00000298047:Y3141X	Y	+	3	2	FAT3	92182832	0.997000	0.39634	1.000000	0.80357	0.922000	0.55478	0.366000	0.20365	0.321000	0.23259	0.460000	0.39030	TAT		0.527	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		A	92543184	T	A	92543184	4	1	736	1	0	0	0	0	0	1	0	0	5693	1471	51	5	9469	5	FAT3	11	92543184	Nonsense_Mutation	SNP	T	TCGA-KN-8430-01A-11D-2310-10	15625940	92543184	42463332	67	42674											
OR10G8	219869	mdanderson.org	37	11	123900385	123900385	+	Missense_Mutation	SNP	C	C	A	rs149524303	byFrequency	TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr11:123900385C>A	ENST00000431524.1	+	1	89	c.56C>A	c.(55-57)cCa>cAa	p.P19Q		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	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)|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)		CCCCATGCCCCAGCGCTGGAC	0.567																																																0																																										SO:0001583	missense	219869			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.56C>A	11.37:g.123900385C>A	ENSP00000389072:p.Pro19Gln		B2RNJ3|Q6IEV2	Missense_Mutation	SNP	ENST00000431524.1	37	CCDS31704.1	.	.	.	.	.	.	.	.	.	.	C	10.41	1.342383	0.24339	.	.	ENSG00000234560	ENST00000431524	T	0.00428	7.44	2.95	2.95	0.34219	.	0.136796	0.33670	N	0.004664	T	0.00384	0.0012	M	0.64170	1.965	0.25608	N	0.986521	B	0.12630	0.006	B	0.15870	0.014	T	0.37798	-0.9690	10	0.32370	T	0.25	.	8.8035	0.34923	0.2255:0.7745:0.0:0.0	.	19	Q8NGN5	O10G8_HUMAN	Q	19	ENSP00000389072:P19Q	ENSP00000389072:P19Q	P	+	2	0	OR10G8	123405595	0.001000	0.12720	0.073000	0.20177	0.007000	0.05969	1.082000	0.30803	1.634000	0.50500	0.585000	0.79938	CCA		0.567	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		A	123900385	C	A	123900385	3	1	736	1	0	0	0	0	1	0	0	0	10905	594	21	4	58	4	OR10G8	11	123900385	Missense_Mutation	SNP	C	TCGA-KN-8430-01A-11D-2310-10	31357201	123900385	11106131	68	42675			1	98		2	2	27	N	G_C	9.070317e-05
OR10G8	219869	mdanderson.org	37	11	123900411	123900411	+	Missense_Mutation	SNP	G	G	A	rs202220125	byFrequency	TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr11:123900411G>A	ENST00000431524.1	+	1	115	c.82G>A	c.(82-84)Gtc>Atc	p.V28I		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	28						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)		CCTCTTTGGAGTCTTCCTGGT	0.572													G|||	7	0.00139776	0.0	0.0043	5008	,	,		19799	0.0		0.001	False		,,,				2504	0.0031															0													195	177	183					11																	123900411		2201	4299	6500	SO:0001583	missense	219869			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.82G>A	11.37:g.123900411G>A	ENSP00000389072:p.Val28Ile		B2RNJ3|Q6IEV2	Missense_Mutation	SNP	ENST00000431524.1	37	CCDS31704.1	.	.	.	.	.	.	.	.	.	.	G	4.296	0.054107	0.08291	.	.	ENSG00000234560	ENST00000431524	T	0.02916	4.11	2.95	-4.35	0.03656	.	0.824866	0.10366	N	0.683403	T	0.01254	0.0041	N	0.16066	0.365	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.48258	-0.9051	10	0.10377	T	0.69	.	1.3401	0.02153	0.2804:0.2787:0.3033:0.1376	.	28	Q8NGN5	O10G8_HUMAN	I	28	ENSP00000389072:V28I	ENSP00000389072:V28I	V	+	1	0	OR10G8	123405621	0.000000	0.05858	0.003000	0.11579	0.022000	0.10575	-3.513000	0.00446	-1.037000	0.03283	-0.324000	0.08512	GTC		0.572	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		A	123900411	G	A	123900411	3	1	736	1	0	0	0	0	1	0	0	0	10905	1029	36	2	84	2	OR10G8	11	123900411	Missense_Mutation	SNP	G	TCGA-KN-8430-01A-11D-2310-10	26	123900411	11106105	69	42676			1	98		2	2	27	N	G_C	9.070317e-05
ADAMTS8	11095	ucsc.edu;bcgsc.ca	37	11	130284611	130284611	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr11:130284611G>A	ENST00000257359.6	-	5	2087	c.1381C>T	c.(1381-1383)Cgc>Tgc	p.R461C		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	461	Disintegrin.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	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;0.039)|Lung(977;0.213)		GGGCAGTGGCGGAAATCCGGC	0.677																																																0													49	56	54					11																	130284611		2051	4202	6253	SO:0001583	missense	11095			AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"ADAM metallopeptidases with thrombospondin type 1 motif"	224	protein-coding gene	gene with protein product		605175	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.1381C>T	11.37:g.130284611G>A	ENSP00000257359:p.Arg461Cys		Q9NZS0	Missense_Mutation	SNP	ENST00000257359.6	37	CCDS41732.1	.	.	.	.	.	.	.	.	.	.	G	18.67	3.673513	0.67928	.	.	ENSG00000134917	ENST00000257359;ENST00000414575	T	0.60797	0.16	5.59	4.68	0.58851	.	0.602094	0.19398	N	0.115243	T	0.72187	0.3429	M	0.76938	2.355	0.40367	D	0.9793	D	0.89917	1.0	P	0.62560	0.904	T	0.75731	-0.3215	10	0.87932	D	0	.	10.5172	0.44896	0.1472:0.0:0.8528:0.0	.	461	Q9UP79	ATS8_HUMAN	C	461;490	ENSP00000257359:R461C	ENSP00000257359:R461C	R	-	1	0	ADAMTS8	129789821	0.996000	0.38824	1.000000	0.80357	0.914000	0.54420	1.602000	0.36783	1.356000	0.45884	0.655000	0.94253	CGC		0.677	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037		A	130284611	G	A	130284611	3	1	736	1	0	0	0	0	1	0	0	0	272	1116	39	1	1308	1	ADAMTS8	11	130284611	Missense_Mutation	SNP	G	TCGA-KN-8430-01A-11D-2310-10	6384200	130284611	4721905	70	42677											
TAS2R46	259292	mdanderson.org	37	12	11214005	11214005	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr12:11214005C>T	ENST00000533467.1	-	1	888	c.889G>A	c.(889-891)Gtg>Atg	p.V297M	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	taste receptor, type 2, member 46	297				HV -> QM (in Ref. 3). {ECO:0000305}.	detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		CAGTACCTCACATGCCACAAA	0.418																																																0													182	183	183					12																	11214005		2032	4234	6266	SO:0001583	missense	259292			AF494227	CCDS53748.1	12p13.2	2012-08-22				ENSG00000226761		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18877	protein-coding gene	gene with protein product		612774				12379855	Standard	NM_176887		Approved	T2R54	uc001qzp.1	P59540		ENST00000533467.1:c.889G>A	12.37:g.11214005C>T	ENSP00000436450:p.Val297Met		P59548|Q645X6	Missense_Mutation	SNP	ENST00000533467.1	37	CCDS53748.1	.	.	.	.	.	.	.	.	.	.	C	3.988	-0.005081	0.07773	.	.	ENSG00000226761	ENST00000533467	T	0.37584	1.19	2.54	1.59	0.23543	.	.	.	.	.	T	0.25457	0.0619	L	0.33245	0.995	0.09310	N	1	B	0.15930	0.015	B	0.26969	0.075	T	0.27468	-1.0073	9	0.36615	T	0.2	.	4.5917	0.12310	0.0:0.3575:0.432:0.2105	.	297	P59540	T2R46_HUMAN	M	297	ENSP00000436450:V297M	ENSP00000436450:V297M	V	-	1	0	TAS2R46	11105272	0.000000	0.05858	0.004000	0.12327	0.077000	0.17291	-1.385000	0.02540	0.356000	0.24157	0.194000	0.17425	GTG		0.418	TAS2R46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383559.1	NM_176887		T	11214005	C	T	11214005	3	4	736	1	0	0	0	0	1	0	0	0	15587	478	17	2	44	2	TAS2R46	12	11214005	Missense_Mutation	SNP	C	TCGA-KN-8430-01A-11D-2310-10		11214005	122637890	71	42678											
TAS2R30	259293	mdanderson.org	37	12	11286736	11286736	+	Silent	SNP	G	G	C	rs112605675		TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr12:11286736G>C	ENST00000539585.1	-	1	507	c.108C>G	c.(106-108)gtC>gtG	p.V36V	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_001097643.1	NP_001091112.1	P59541	T2R30_HUMAN	taste receptor, type 2, member 30	36					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)	p.V36V(1)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						TTTGTCTCTTGACCCACTCAA	0.388																																																1	Substitution - coding silent(1)	lung(1)											67	66	66					12																	11286736		2014	4225	6239	SO:0001819	synonymous_variant	259293			AX097746, AF494233	CCDS53750.1	12p13.2	2012-08-22				ENSG00000256188		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	19112	protein-coding gene	gene with protein product		613963	"taste receptor, type 2, member 47"	TAS2R47			Standard	NM_001097643		Approved	T2R30	uc009zhs.1	P59541		ENST00000539585.1:c.108C>G	12.37:g.11286736G>C			Q645X7	Silent	SNP	ENST00000539585.1	37	CCDS53750.1																																																																																				0.388	TAS2R30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400238.1	NM_001097643		C	11286736	G	C	11286736	2	2	736	1	0	0	0	0	0	0	0	1	15578	1277	45	4		4	TAS2R30	12	11286736	Silent	SNP	G	TCGA-KN-8430-01A-11D-2310-10	72731	11286736	122565159	72	42679											
PRB2	653247	mdanderson.org	37	12	11546751	11546751	+	Missense_Mutation	SNP	G	G	C			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr12:11546751G>C	ENST00000389362.4	-	3	296	c.261C>G	c.(259-261)aaC>aaG	p.N87K	PRB1_ENST00000546254.1_Intron|PRB2_ENST00000545829.1_5'Flank	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	87	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			CTTGAGGTTTGTTGCCTCCTT	0.607																																																0																																										SO:0001583	missense	653247			K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.261C>G	12.37:g.11546751G>C	ENSP00000374013:p.Asn87Lys		O00599|P02811|P04281	Missense_Mutation	SNP	ENST00000389362.4	37	CCDS41757.2	.	.	.	.	.	.	.	.	.	.	.	1.981	-0.434036	0.04669	.	.	ENSG00000121335	ENST00000389362	T	0.03982	3.74	1.06	-2.12	0.07165	.	.	.	.	.	T	0.03220	0.0094	L	0.43152	1.355	0.09310	N	1	B	0.12630	0.006	B	0.11329	0.006	T	0.50825	-0.8782	9	0.05620	T	0.96	.	3.3787	0.07247	0.2438:0.2649:0.4913:0.0	.	87	P02812	PRB2_HUMAN	K	87	ENSP00000374013:N87K	ENSP00000374013:N87K	N	-	3	2	PRB2	11438018	.	.	0.002000	0.10522	0.047000	0.14425	.	.	-1.987000	0.00982	-1.380000	0.01176	AAC		0.607	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		C	11546751	G	C	11546751	3	2	736	1	0	0	0	0	1	0	0	0	12448	1368	48	4	993	4	PRB2	12	11546751	Missense_Mutation	SNP	G	TCGA-KN-8430-01A-11D-2310-10	260015	11546751	122305144	73	42680											
CDKN1B	1027	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	12871758	12871758	+	Splice_Site	SNP	G	G	C			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr12:12871758G>C	ENST00000228872.4	+	2	1191		c.e2-1		CDKN1B_ENST00000396340.1_Intron|CDKN1B_ENST00000477087.1_Splice_Site	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)			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)		CCTGCGCTTAGATTCTTCTAC	0.438																																																0													72	86	81					12																	12871758		2203	4300	6503	SO:0001630	splice_region_variant	1027			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.476-1G>C	12.37:g.12871758G>C			Q16307|Q5U0H2|Q9BUS6	Splice_Site	SNP	ENST00000228872.4	37	CCDS8653.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.301381	0.60195	.	.	ENSG00000111276	ENST00000228872;ENST00000535674;ENST00000442489	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7715	0.85538	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDKN1B	12763025	1.000000	0.71417	0.994000	0.49952	0.746000	0.42486	6.881000	0.75584	2.384000	0.81235	0.655000	0.94253	.		0.438	CDKN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313878.2	NM_004064	Intron	C	12871758	G	C	12871758	5	2	736	1	0	0	0	0	0	0	1	0	3161	956	33	4	481	4	CDKN1B	12	12871758	Splice_Site	SNP	G	TCGA-KN-8430-01A-11D-2310-10	1325007	12871758	120980137	74	42681											
KIF21A	55605	hgsc.bcm.edu;mdanderson.org	37	12	39735383	39735383	+	Silent	SNP	C	C	T			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr12:39735383C>T	ENST00000361418.5	-	14	1860	c.1845G>A	c.(1843-1845)gaG>gaA	p.E615E	KIF21A_ENST00000395670.3_Silent_p.E615E|KIF21A_ENST00000541463.2_Silent_p.E602E|KIF21A_ENST00000544797.2_Silent_p.E602E|KIF21A_ENST00000361961.3_Silent_p.E602E			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	615					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)	p.E602D(1)|p.E602E(1)		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)				cctcctcctcctcttcttcat	0.398																																																2	Substitution - Missense(1)|Substitution - coding silent(1)	lung(1)|kidney(1)											85	82	83					12																	39735383		2203	4299	6502	SO:0001819	synonymous_variant	55605			AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"Kinesins", "WD repeat domain containing"	19349	protein-coding gene	gene with protein product		608283	"fibrosis of the extraocular muscles, congenital, 1"	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.1845G>A	12.37:g.39735383C>T			A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Silent	SNP	ENST00000361418.5	37	CCDS53776.1																																																																																				0.398	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		T	39735383	C	T	39735383	2	4	736	1	0	0	0	0	0	0	0	1	8290	680	24	2		2	KIF21A	12	39735383	Silent	SNP	C	TCGA-KN-8430-01A-11D-2310-10	26863625	39735383	94116512	75	42682											
TBK1	29110	broad.mit.edu	37	12	64873884	64873884	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr12:64873884T>C	ENST00000331710.5	+	7	1133	c.794T>C	c.(793-795)gTt>gCt	p.V265A		NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	265	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|dendritic cell proliferation (GO:0044565)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of gene expression (GO:0010629)|negative regulation of type I interferon production (GO:0032480)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to virus (GO:0009615)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon production (GO:0032606)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)	ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		GACATGCCTGTTTCTTGCAGT	0.398																																																0													201	191	194					12																	64873884		2203	4300	6503	SO:0001583	missense	29110			AF191838	CCDS8968.1	12q14.2	2006-06-10			ENSG00000183735	ENSG00000183735			11584	protein-coding gene	gene with protein product		604834				10581243, 10783893	Standard	NM_013254		Approved	NAK	uc001ssc.2	Q9UHD2	OTTHUMG00000168796	ENST00000331710.5:c.794T>C	12.37:g.64873884T>C	ENSP00000329967:p.Val265Ala		A8K4S4|Q8IYV3|Q9NUJ5	Missense_Mutation	SNP	ENST00000331710.5	37	CCDS8968.1	.	.	.	.	.	.	.	.	.	.	T	11.43	1.637133	0.29157	.	.	ENSG00000183735	ENST00000331710	T	0.64803	-0.12	4.71	3.57	0.40892	Protein kinase, catalytic domain (1);	0.553565	0.19822	N	0.105285	T	0.31327	0.0793	N	0.01874	-0.695	0.30188	N	0.79977	B	0.02656	0.0	B	0.08055	0.003	T	0.20907	-1.0261	9	.	.	.	-3.3263	9.9944	0.41891	0.0:0.0804:0.0:0.9196	.	265	Q9UHD2	TBK1_HUMAN	A	265	ENSP00000329967:V265A	.	V	+	2	0	TBK1	63160151	0.968000	0.33430	0.914000	0.36105	0.893000	0.52053	4.470000	0.60175	0.795000	0.33922	0.477000	0.44152	GTT		0.398	TBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401130.1	NM_013254		C	64873884	T	C	64873884	3	2	736	1	0	0	0	0	1	0	0	0	15642	1725	60	3	816	3	TBK1	12	64873884	Missense_Mutation	SNP	T	TCGA-KN-8430-01A-11D-2310-10	25138501	64873884	68978011	76	42683											
GPR133	283383	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	12	131593399	131593399	+	Missense_Mutation	SNP	G	G	A	rs141128784		TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr12:131593399G>A	ENST00000261654.5	+	18	2577	c.2018G>A	c.(2017-2019)cGt>cAt	p.R673H	GPR133_ENST00000376682.4_Missense_Mutation_p.R359H|GPR133_ENST00000535015.1_Missense_Mutation_p.R705H|GPR133_ENST00000543617.1_Missense_Mutation_p.R192H	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	673					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.R673H(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)		AGCAAGCACCGTTACTACTat	0.607													g|||	1	0.000199681	0.0008	0.0	5008	,	,		11651	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	prostate(1)						A	HIS/ARG	4,4402	8.1+/-20.4	0,4,2199	114	105	108		2018	-5.2	0.3	12	dbSNP_134	108	0,8600		0,0,4300	no	missense	GPR133	NM_198827.3	29	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	benign	673/875	131593399	4,13002	2203	4300	6503	SO:0001583	missense	283383			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.2018G>A	12.37:g.131593399G>A	ENSP00000261654:p.Arg673His		B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	ENST00000261654.5	37	CCDS9272.1	.	.	.	.	.	.	.	.	.	.	g	13.48	2.250340	0.39797	9.08E-4	0.0	ENSG00000111452	ENST00000261654;ENST00000535015;ENST00000376682;ENST00000543617	T;T;T;T	0.42513	1.18;1.21;0.97;0.97	4.78	-5.21	0.02815	GPCR, family 2-like (1);	0.429012	0.26038	N	0.026706	T	0.34629	0.0904	M	0.70842	2.15	0.20074	N	0.999931	B;B;B	0.31351	0.001;0.32;0.216	B;B;B	0.33568	0.005;0.064;0.166	T	0.21415	-1.0246	10	0.33141	T	0.24	.	8.6912	0.34267	0.2113:0.0:0.4899:0.2988	.	705;192;673	B7ZLF7;Q6QNK2-3;Q6QNK2	.;.;GP133_HUMAN	H	673;705;359;192	ENSP00000261654:R673H;ENSP00000444425:R705H;ENSP00000365872:R359H;ENSP00000438021:R192H	ENSP00000261654:R673H	R	+	2	0	GPR133	130159352	0.869000	0.29996	0.336000	0.25522	0.819000	0.46315	0.830000	0.27462	-1.407000	0.02043	-1.480000	0.00990	CGT		0.607	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		A	131593399	G	A	131593399	3	1	736	1	0	0	0	0	1	0	0	0	6645	1145	40	1	2088	1	GPR133	12	131593399	Missense_Mutation	SNP	G	TCGA-KN-8430-01A-11D-2310-10	66719515	131593399	2258496	77	42684											
SKA3	221150	hgsc.bcm.edu	37	13	21742126	21742126	+	Splice_Site	SNP	C	C	A			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr13:21742126C>A	ENST00000314759.5	-	4	868		c.e4+1		SKA3_ENST00000400018.3_Splice_Site	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3						chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|spindle microtubule (GO:0005876)				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						GAGCTGCTTACCTTTTATTAT	0.284																																																0													63	58	60					13																	21742126		2203	4297	6500	SO:0001630	splice_region_variant	221150			AF361358	CCDS31946.1, CCDS53856.1	13q11	2013-01-17	2009-08-19	2009-08-19	ENSG00000165480	ENSG00000165480			20262	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 3"	C13orf3		19387489, 19289083, 19646878, 19360002	Standard	NM_145061		Approved	MGC4832, RAMA1	uc001unt.3	Q8IX90	OTTHUMG00000016539	ENST00000314759.5:c.743+1G>T	13.37:g.21742126C>A			A2A330|A2A331|B2RBY2|Q5VZV5|Q86WR2|Q8NBG1|Q96D22	Splice_Site	SNP	ENST00000314759.5	37	CCDS31946.1	.	.	.	.	.	.	.	.	.	.	C	12.82	2.052163	0.36181	.	.	ENSG00000165480	ENST00000314759;ENST00000400018	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6803	0.77364	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SKA3	20640126	1.000000	0.71417	1.000000	0.80357	0.302000	0.27658	4.395000	0.59678	2.777000	0.95525	0.655000	0.94253	.		0.284	SKA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000272912.1	NM_145061	Intron	A	21742126	C	A	21742126	5	1	736	1	0	0	0	0	0	0	1	0	14360	521	18	4	565	4	SKA3	13	21742126	Splice_Site	SNP	C	TCGA-KN-8430-01A-11D-2310-10		21742126	93427752	78	42685											
PABPC3	5042	bcgsc.ca	37	13	25671027	25671027	+	Missense_Mutation	SNP	A	A	G	rs78826513	byFrequency	TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr13:25671027A>G	ENST00000281589.3	+	1	728	c.691A>G	c.(691-693)Aaa>Gaa	p.K231E		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	231	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TGGAAAATCCAAAGGATTTGG	0.418																																																0													81	76	78					13																	25671027		2203	4300	6503	SO:0001583	missense	5042			AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"RNA binding motif (RRM) containing"	8556	protein-coding gene	gene with protein product	"testis PABP"	604680	"poly(A)-binding protein, cytoplasmic 3"	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.691A>G	13.37:g.25671027A>G	ENSP00000281589:p.Lys231Glu		Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	A	14.76	2.631048	0.46944	.	.	ENSG00000151846	ENST00000281589	T	0.08807	3.05	0.993	0.993	0.19825	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.49916	U	0.000136	T	0.27063	0.0663	M	0.90198	3.095	0.34162	D	0.668825	D	0.65815	0.995	D	0.67725	0.953	T	0.36553	-0.9743	10	0.87932	D	0	.	6.1165	0.20130	1.0:0.0:0.0:0.0	.	231	Q9H361	PABP3_HUMAN	E	231	ENSP00000281589:K231E	ENSP00000281589:K231E	K	+	1	0	PABPC3	24569027	0.998000	0.40836	0.994000	0.49952	0.967000	0.64934	2.374000	0.44274	0.692000	0.31613	0.374000	0.22700	AAA		0.418	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		G	25671027	A	G	25671027	3	3	736	1	0	0	0	0	1	0	0	0	11367	131	5	3	693	3	PABPC3	13	25671027	Missense_Mutation	SNP	A	TCGA-KN-8430-01A-11D-2310-10	3928901	25671027	89498851	79	42686											
PDS5B	23047	bcgsc.ca	37	13	33253045	33253045	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr13:33253045G>T	ENST00000315596.10	+	10	1222	c.1036G>T	c.(1036-1038)Gat>Tat	p.D346Y		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	346					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		GAACCATCCTGATTTAGCAAA	0.343																																																0													99	87	91					13																	33253045		1831	4086	5917	SO:0001583	missense	23047			AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"androgen-induced proliferation inhibitor"	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.1036G>T	13.37:g.33253045G>T	ENSP00000313851:p.Asp346Tyr		Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Missense_Mutation	SNP	ENST00000315596.10	37	CCDS41878.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.863929	0.91511	.	.	ENSG00000083642	ENST00000315596;ENST00000421084	T	0.69806	-0.43	5.49	5.49	0.81192	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.72334	0.3447	L	0.59436	1.845	0.80722	D	1	P;P	0.44877	0.845;0.658	P;B	0.48524	0.58;0.211	T	0.70963	-0.4729	10	0.38643	T	0.18	-1.4873	19.3744	0.94502	0.0:0.0:1.0:0.0	.	346;346	Q9NTI5;Q9NTI5-3	PDS5B_HUMAN;.	Y	346	ENSP00000313851:D346Y	ENSP00000313851:D346Y	D	+	1	0	PDS5B	32151045	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.711000	0.98735	2.585000	0.87301	0.561000	0.74099	GAT		0.343	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	NM_015032		T	33253045	G	T	33253045	3	4	736	1	0	0	0	0	1	0	0	0	11694	1290	45	4	1070	4	PDS5B	13	33253045	Missense_Mutation	SNP	G	TCGA-KN-8430-01A-11D-2310-10	7582018	33253045	81916833	80	42687											
ZNF219	51222	mdanderson.org	37	14	21560706	21560706	+	Silent	SNP	C	C	G	rs370417468|rs1065496	byFrequency	TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr14:21560706C>G	ENST00000360947.3	-	3	1161	c.750G>C	c.(748-750)ccG>ccC	p.P250P	RP11-998D10.7_ENST00000554733.2_lincRNA|ZNF219_ENST00000451119.2_Silent_p.P250P|ZNF219_ENST00000556101.1_5'Flank|ZNF219_ENST00000421093.2_Silent_p.P250P	NM_016423.2	NP_057507.2	Q9P2Y4	ZN219_HUMAN	zinc finger protein 219	250					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurotransmitter levels (GO:0001505)|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)|histamine receptor activity (GO:0004969)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)		gttcgggctccggctccggct	0.726											OREG0022565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	448	0.0894569	0.1097	0.049	5008	,	,		11470	0.0942		0.0785	False		,,,				2504	0.0971															0								C	,,	331,3629		14,303,1663	6	7	7		750,750,750	-8.1	0.1	14	dbSNP_86	7	434,7432		9,416,3508	no	coding-synonymous,coding-synonymous,coding-synonymous	ZNF219	NM_001101672.1,NM_001102454.1,NM_016423.2	,,	23,719,5171	GG,GC,CC		5.5174,8.3586,6.4688	,,	250/723,250/723,250/723	21560706	765,11061	1980	3933	5913	SO:0001819	synonymous_variant	51222			AB015427	CCDS9568.1	14q11	2013-01-08			ENSG00000165804	ENSG00000165804		"Zinc fingers, C2H2-type"	13011	protein-coding gene	gene with protein product		605036				10819330	Standard	NM_016423		Approved		uc001vzs.2	Q9P2Y4	OTTHUMG00000029647	ENST00000360947.3:c.750G>C	14.37:g.21560706C>G		749	D3DS16|Q53Y57|Q8IYC1|Q9BW28	Silent	SNP	ENST00000360947.3	37	CCDS9568.1																																																																																				0.726	ZNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073931.2			G	21560706	C	G	21560706	2	3	736	1	0	0	0	0	0	0	0	1	17778	639	23	4		4	ZNF219	14	21560706	Silent	SNP	C	TCGA-KN-8430-01A-11D-2310-10		21560706	85788834	81	42688											
FLRT2	23768	mdanderson.org;bcgsc.ca	37	14	86087938	86087938	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr14:86087938A>G	ENST00000330753.4	+	2	847	c.80A>G	c.(79-81)tAc>tGc	p.Y27C	FLRT2_ENST00000554746.1_Missense_Mutation_p.Y27C	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	27					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|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)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CTGGGGCTCTACTCACAGGTG	0.517																																																0													93	90	91					14																	86087938		2203	4300	6503	SO:0001583	missense	23768			AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"Fibronectin type III domain containing"	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.80A>G	14.37:g.86087938A>G	ENSP00000332879:p.Tyr27Cys		A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	A	14.23	2.473548	0.43942	.	.	ENSG00000185070	ENST00000330753;ENST00000554746	T;T	0.55588	0.51;0.51	5.73	0.269	0.15631	.	0.474802	0.24024	N	0.042253	T	0.27765	0.0683	N	0.14661	0.345	0.28151	N	0.929377	B	0.02656	0.0	B	0.01281	0.0	T	0.07908	-1.0748	10	0.39692	T	0.17	-5.2127	4.1128	0.10067	0.4357:0.3756:0.0674:0.1213	.	27	O43155	FLRT2_HUMAN	C	27	ENSP00000332879:Y27C;ENSP00000451050:Y27C	ENSP00000332879:Y27C	Y	+	2	0	FLRT2	85157691	0.034000	0.19679	0.993000	0.49108	0.996000	0.88848	0.102000	0.15272	0.084000	0.17077	0.533000	0.62120	TAC		0.517	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			G	86087938	A	G	86087938	3	3	736	1	0	0	0	0	1	0	0	0	5941	391	14	3	82	3	FLRT2	14	86087938	Missense_Mutation	SNP	A	TCGA-KN-8430-01A-11D-2310-10	64527232	86087938	21261602	82	42689											
CLMN	79789	broad.mit.edu	37	14	95662949	95662949	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr14:95662949delT	ENST00000298912.4	-	10	2707	c.2594delA	c.(2593-2595)aagfs	p.K865fs	CLMN_ENST00000557215.1_5'Flank|CLMN_ENST00000556441.1_5'Flank	NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	865					negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.K865fs*10(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		CCTTTTTTCCTTTTTTTTACT	0.408																																																1	Deletion - Frameshift(1)	large_intestine(1)											152	132	139					14																	95662949		2203	4300	6503	SO:0001589	frameshift_variant	79789			AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.2594delA	14.37:g.95662949delT	ENSP00000298912:p.Lys865fs		B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Frame_Shift_Del	DEL	ENST00000298912.4	37	CCDS9933.1																																																																																				0.408	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414518.2			-	95662949	T	-	95662949	7	5	736	1	0	1	0	1	0	0	0	0	3544	1609	56	0	430	0	CLMN	14	95662949	Frame_Shift_Del	DEL	T	TCGA-KN-8430-01A-11D-2310-10	9575011	95662949	11686591	83	42690											
DEGS2	123099	mdanderson.org	37	14	100625902	100625902	+	Missense_Mutation	SNP	C	C	T	rs7157599	byFrequency	TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr14:100625902C>T	ENST00000553834.1	-	1	30	c.23G>A	c.(22-24)aGc>aAc	p.S8N	DEGS2_ENST00000305631.5_Missense_Mutation_p.S8N					delta(4)-desaturase, sphingolipid 2											breast(1)|lung(6)|skin(1)	8		Melanoma(154;0.212)				CTCGAAGTCGCTGCGGCTCGC	0.766													c|||	3842	0.767173	0.8661	0.768	5008	,	,		8798	0.7282		0.6948	False		,,,				2504	0.7474															0								T	ASN/SER	2896,464		1254,388,38	8	7	8	http://www.ncbi.nlm.nih.gov/pubmed?term	23	0.5	1	14	dbSNP_116	8	4583,1505		1740,1103,201	yes	missense	DEGS2	NM_206918.2	46	2994,1491,239	TT,TC,CC	http://www.ncbi.nlm.nih.gov/pubmed?term	24.7208,13.8095,20.8404	benign	8/324	100625902	7479,1969	1680	3044	4724	SO:0001583	missense	123099				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	ENST00000553834.1:c.23G>A	14.37:g.100625902C>T	ENSP00000450637:p.Ser8Asn			Missense_Mutation	SNP	ENST00000553834.1	37		1662	0.760989010989011	431	0.8760162601626016	274	0.7569060773480663	424	0.7412587412587412	533	0.7031662269129287	.	9.769	1.172237	0.21704	0.861905	0.752792	ENSG00000168350	ENST00000305631;ENST00000553834	T;T	0.40476	1.03;1.03	4.72	0.456	0.16655	Sphingolipid delta4-desaturase, N-terminal (1);	0.817312	0.11149	N	0.594331	T	0.00012	0.0000	N	0.13003	0.285	0.58432	P	9.000000000036756E-6	B	0.02656	0.0	B	0.04013	0.001	T	0.21827	-1.0234	9	0.17369	T	0.5	-1.5775	5.1779	0.15145	0.1384:0.5173:0.2681:0.0762	rs7157599;rs60508435;rs7157599	8	Q6QHC5	DEGS2_HUMAN	N	8	ENSP00000307126:S8N;ENSP00000450637:S8N	ENSP00000307126:S8N	S	-	2	0	DEGS2	99695655	0.085000	0.21516	0.990000	0.47175	0.532000	0.34746	-0.317000	0.08060	-0.209000	0.10156	-0.336000	0.08194	AGC		0.766	DEGS2-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000414004.1	NM_206918		T	100625902	C	T	100625902	3	4	736	1	0	0	0	0	1	0	0	0	4425	797	28	2	960	2	DEGS2	14	100625902	Missense_Mutation	SNP	C	TCGA-KN-8430-01A-11D-2310-10	4962953	100625902	6723638	84	42691											
MYO9A	4649	mdanderson.org	37	15	72190902	72190902	+	Silent	SNP	G	G	T			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr15:72190902G>T	ENST00000356056.5	-	25	4414	c.3942C>A	c.(3940-3942)ggC>ggA	p.G1314G	MYO9A_ENST00000444904.1_Silent_p.G1295G|MYO9A_ENST00000424560.1_Silent_p.G1314G|MYO9A_ENST00000564571.1_Silent_p.G1314G|MYO9A_ENST00000566885.1_Silent_p.G934G|MYO9A_ENST00000563542.1_5'UTR	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1314	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						GAGACTGAAGGCCTTCAGGCA	0.458																																																0													116	116	116					15																	72190902		2199	4297	6496	SO:0001819	synonymous_variant	4649			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.3942C>A	15.37:g.72190902G>T			B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Silent	SNP	ENST00000356056.5	37	CCDS10239.1																																																																																				0.458	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		T	72190902	G	T	72190902	2	4	736	1	0	0	0	0	0	0	0	1	10086	1190	42	4		4	MYO9A	15	72190902	Silent	SNP	G	TCGA-KN-8430-01A-11D-2310-10		72190902	30340490	85	42692											
OR4F4	26682	broad.mit.edu	37	15	102462595	102462595	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr15:102462595delA	ENST00000326183.3	-	1	703	c.668delT	c.(667-669)ttafs	p.L223fs		NM_001004195.2	NP_001004195.2	Q96R69	OR4F4_HUMAN	olfactory receptor, family 4, subfamily F, member 4	223						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			ovary(1)	1	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)			CGACTTATCTAAAGGGCAATG	0.413																																																0													303	467	415					15																	102462595		1925	4157	6082	SO:0001589	frameshift_variant	26682				CCDS32343.1	15q26.3	2012-08-09			ENSG00000177693	ENSG00000177693		"GPCR / Class A : Olfactory receptors"	8301	protein-coding gene	gene with protein product							Standard	NM_001004195		Approved	OR4F18	uc002cdf.1	Q96R69		ENST00000326183.3:c.668delT	15.37:g.102462595delA	ENSP00000317482:p.Leu223fs		B2RNI5|Q6IFN9	Nonsense_Mutation	DEL	ENST00000326183.3	37	CCDS32343.1																																																																																				0.413	OR4F4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417599.1	NM_001004195		-	102462595	A	-	102462595	7	5	736	1	0	1	0	1	0	0	0	0	11066	372	13	0	253	0	OR4F4	15	102462595	Frame_Shift_Del	DEL	A	TCGA-KN-8430-01A-11D-2310-10	30271693	102462595	68797	86	42693											
ZNF598	90850	hgsc.bcm.edu	37	16	2059622	2059622	+	Splice_Site	DEL	C	C	-	rs11366527		TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr16:2059622delC	ENST00000431526.1	-	3	139	c.125delG	c.(124-126)ggc>gc	p.G42fs	ZNF598_ENST00000563630.1_5'UTR|ZNF598_ENST00000562103.1_5'UTR	NM_178167.2	NP_835461.2	Q86UK7	ZN598_HUMAN	zinc finger protein 598	42							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						GTCGCAGCGGCCCCAGCGCCG	0.736													CCC|CCCC|CCC|insertion	5008	1.0	1.0	1.0	5008	,	,		6036	1.0		1.0	False		,,,				2504	1.0															0										2432,4		1216,0,2	1	1	1			2.3	1	16	dbSNP_120	2	5091,7		2545,1,3	no	frameshift	ZNF598	NM_178167.2		3761,1,5	A1A1,A1R,RR		0.1373,0.1642,0.146			2059622	7523,11	285	632	917	SO:0001630	splice_region_variant	90850			BC029270		16p13.3	2008-05-02				ENSG00000167962		"Zinc fingers, C2H2-type"	28079	protein-coding gene	gene with protein product							Standard	NM_178167		Approved	FLJ00086	uc002cof.2	Q86UK7		ENST00000431526.1:c.124-1G>-	16.37:g.2059622delC			Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	Frame_Shift_Del	DEL	ENST00000431526.1	37																																																																																					0.736	ZNF598-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_178167	Frame_Shift_Del	-	2059622	C	-	2059622	8	5	736	1	0	1	0	1	0	0	1	0	18033	739	26	0	2637	0	ZNF598	16	2059622	Splice_Site	DEL	C	TCGA-KN-8430-01A-11D-2310-10		2059622	88295131	87	42694											
PKD1	5310	mdanderson.org	37	16	2154573	2154573	+	Missense_Mutation	SNP	A	A	C	rs201238819		TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr16:2154573A>C	ENST00000262304.4	-	22	8295	c.8087T>G	c.(8086-8088)cTc>cGc	p.L2696R	PKD1_ENST00000561991.1_5'UTR|PKD1_ENST00000423118.1_Missense_Mutation_p.L2696R	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2696	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.		L -> R (in PKD1). {ECO:0000269|PubMed:11316854}.		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)	p.L2696R(3)		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						CTGCAGGATGAGCATCATGGC	0.677																																																3	Substitution - Missense(3)	skin(2)|endometrium(1)	GRCh37	CM014074	PKD1	M							16	12	13					16																	2154573		2107	4184	6291	SO:0001583	missense	5310			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.8087T>G	16.37:g.2154573A>C	ENSP00000262304:p.Leu2696Arg		Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	-	0.355	-0.942715	0.02322	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101;ENST00000382481	T;T	0.32988	1.43;1.43	4.37	-1.71	0.08133	Egg jelly receptor, REJ-like (1);Polycystin cation channel (1);	0.646468	0.16090	N	0.230081	T	0.05181	0.0138	N	0.00347	-1.61	0.20873	N	0.99984	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.35500	-0.9786	10	0.12430	T	0.62	.	2.3268	0.04224	0.102:0.2587:0.2052:0.4341	.	2696;2696	P98161-3;P98161	.;PKD1_HUMAN	R	2696;2696;2031;975	ENSP00000262304:L2696R;ENSP00000399501:L2696R	ENSP00000262304:L2696R	L	-	2	0	PKD1	2094574	0.916000	0.31088	0.097000	0.21041	0.126000	0.20510	0.857000	0.27831	-0.349000	0.08274	-0.335000	0.08231	CTC		0.677	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			C	2154573	A	C	2154573	3	2	736	1	0	0	0	0	1	0	0	0	11965	304	11	5	4924	5	PKD1	16	2154573	Missense_Mutation	SNP	A	TCGA-KN-8430-01A-11D-2310-10	94951	2154573	88200180	88	42695											
ITGAD	3681	broad.mit.edu	37	16	31421837	31421837	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr16:31421837C>T	ENST00000389202.2	+	11	1254	c.1205C>T	c.(1204-1206)tCt>tTt	p.S402F		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	402					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						ATGAGGGACTCTTACCTGGGT	0.597																																																0													73	70	71					16																	31421837		2197	4300	6497	SO:0001583	missense	3681			U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"CD molecules", "Integrins"	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.1205C>T	16.37:g.31421837C>T	ENSP00000373854:p.Ser402Phe		Q15575|Q15576	Missense_Mutation	SNP	ENST00000389202.2	37	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	c	13.46	2.243558	0.39697	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.23754	1.89	4.43	4.43	0.53597	.	.	.	.	.	T	0.56426	0.1984	M	0.89658	3.05	0.32435	N	0.547457	D;D	0.62365	0.991;0.991	D;D	0.65010	0.931;0.931	T	0.72453	-0.4289	9	0.87932	D	0	.	14.5149	0.67811	0.0:1.0:0.0:0.0	.	418;402	Q59H14;Q13349	.;ITAD_HUMAN	F	418;402	ENSP00000373854:S402F	ENSP00000373854:S402F	S	+	2	0	ITGAD	31329338	0.967000	0.33354	0.825000	0.32803	0.100000	0.18952	3.338000	0.52128	2.007000	0.58848	0.197000	0.17608	TCT		0.597	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		T	31421837	C	T	31421837	3	4	736	1	0	0	0	0	1	0	0	0	7886	913	32	2	1247	2	ITGAD	16	31421837	Missense_Mutation	SNP	C	TCGA-KN-8430-01A-11D-2310-10	29267264	31421837	58932916	89	42696											
ZNF319	57567	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	16	58031971	58031971	+	Missense_Mutation	SNP	G	G	C			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr16:58031971G>C	ENST00000299237.2	-	2	821	c.199C>G	c.(199-201)Ccc>Gcc	p.P67A	USB1_ENST00000561743.1_5'Flank	NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	67	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						GCCTGCAGGGGTGCGTGTTGT	0.692																																																0													36	38	37					16																	58031971		2198	4299	6497	SO:0001583	missense	57567			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.199C>G	16.37:g.58031971G>C	ENSP00000299237:p.Pro67Ala		Q52LH8	Missense_Mutation	SNP	ENST00000299237.2	37	CCDS32462.1	.	.	.	.	.	.	.	.	.	.	G	5.379	0.255089	0.10185	.	.	ENSG00000166188	ENST00000299237	T	0.03035	4.07	5.34	4.38	0.52667	.	0.085303	0.47455	D	0.000239	T	0.03220	0.0094	N	0.20685	0.6	0.36971	D	0.893841	B	0.18461	0.028	B	0.12156	0.007	T	0.46289	-0.9202	10	0.17832	T	0.49	-23.7999	15.0798	0.72106	0.0:0.1425:0.8575:0.0	.	67	Q9P2F9	ZN319_HUMAN	A	67	ENSP00000299237:P67A	ENSP00000299237:P67A	P	-	1	0	ZNF319	56589472	0.999000	0.42202	0.766000	0.31476	0.008000	0.06430	3.229000	0.51278	1.237000	0.43756	-0.302000	0.09304	CCC		0.692	ZNF319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430317.1			C	58031971	G	C	58031971	3	2	736	1	0	0	0	0	1	0	0	0	17842	1261	44	4	1553	4	ZNF319	16	58031971	Missense_Mutation	SNP	G	TCGA-KN-8430-01A-11D-2310-10	26610134	58031971	32322782	90	42697											
CDH16	1014	broad.mit.edu	37	16	66942345	66942345	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr16:66942345T>C	ENST00000299752.4	-	18	2633	c.2440A>G	c.(2440-2442)Aag>Gag	p.K814E	CDH16_ENST00000568632.1_Missense_Mutation_p.K717E|CDH16_ENST00000565796.1_Missense_Mutation_p.K775E|CDH16_ENST00000570262.1_Missense_Mutation_p.K734E|CDH16_ENST00000394055.3_Missense_Mutation_p.K792E	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	814					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)		TCCGGGTCCTTCTTCCTTGAC	0.577																																																0													111	106	108					16																	66942345		2200	4300	6500	SO:0001583	missense	1014			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.2440A>G	16.37:g.66942345T>C	ENSP00000299752:p.Lys814Glu		B4DPA8|H3BPD3|Q6UW93	Missense_Mutation	SNP	ENST00000299752.4	37	CCDS10823.1	.	.	.	.	.	.	.	.	.	.	T	14.62	2.589247	0.46110	.	.	ENSG00000166589	ENST00000394055;ENST00000299752;ENST00000544875	T;T	0.59906	0.23;0.25	5.52	4.43	0.53597	.	0.165860	0.37219	N	0.002181	T	0.59004	0.2162	N	0.22421	0.69	0.39445	D	0.967316	D;D;D	0.69078	0.997;0.997;0.988	P;D;P	0.75020	0.879;0.985;0.76	T	0.60999	-0.7151	10	0.51188	T	0.08	-26.4532	7.9819	0.30188	0.0:0.0924:0.0:0.9076	.	792;814;814	O75309-2;B2R7S8;O75309	.;.;CAD16_HUMAN	E	792;814;778	ENSP00000377619:K792E;ENSP00000299752:K814E	ENSP00000299752:K814E	K	-	1	0	CDH16	65499846	1.000000	0.71417	1.000000	0.80357	0.242000	0.25591	3.426000	0.52778	0.936000	0.37367	0.533000	0.62120	AAG		0.577	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268839.2	NM_004062		C	66942345	T	C	66942345	3	2	736	1	0	0	0	0	1	0	0	0	3103	1792	62	3	53	3	CDH16	16	66942345	Missense_Mutation	SNP	T	TCGA-KN-8430-01A-11D-2310-10	8910374	66942345	23412408	91	42698											
HPR	3250	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	16	72110892	72110892	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr16:72110892A>G	ENST00000540303.2	+	5	991	c.959A>G	c.(958-960)gAt>gGt	p.D320G	HPR_ENST00000228226.8_Missense_Mutation_p.D357G|HPR_ENST00000561690.1_Nonstop_Mutation_p.*118W|HPR_ENST00000356967.5_Missense_Mutation_p.D320G	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	320	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|spherical high-density lipoprotein particle (GO:0034366)	hemoglobin binding (GO:0030492)|serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				CTAAGCTTTGATAAGAGCTGT	0.542																																																0													260	173	202					16																	72110892		2087	4219	6306	SO:0001583	missense	3250			BC160066	CCDS42193.1	16q22.2	2012-10-03			ENSG00000261701	ENSG00000261701			5156	protein-coding gene	gene with protein product		140210				2987228, 16778136	Standard	NM_020995		Approved		uc002fby.3	P00739	OTTHUMG00000173010	ENST00000540303.2:c.959A>G	16.37:g.72110892A>G	ENSP00000441828:p.Asp320Gly		Q7LE20|Q92658|Q92659|Q9ULB0	Missense_Mutation	SNP	ENST00000540303.2	37	CCDS42193.1	.	.	.	.	.	.	.	.	.	.	A	9.648	1.140896	0.21205	.	.	ENSG00000257017	ENST00000356967;ENST00000540303;ENST00000228226	D;D;D	0.88975	-2.45;-2.45;-2.45	2.64	2.64	0.31445	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	T	0.78464	0.4287	N	0.01140	-0.99	0.40259	D	0.97815	D	0.89917	1.0	D	0.97110	1.0	T	0.75671	-0.3237	10	0.02654	T	1	.	7.1984	0.25866	0.7742:0.2258:0.0:0.0	.	320	P00739	HPTR_HUMAN	G	320;320;357	ENSP00000349451:D320G;ENSP00000441828:D320G;ENSP00000228226:D357G	ENSP00000228226:D357G	D	+	2	0	HP	70668393	0.995000	0.38212	1.000000	0.80357	0.524000	0.34500	2.861000	0.48380	1.198000	0.43158	0.338000	0.21704	GAT		0.542	HPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421696.1	NM_020995		G	72110892	A	G	72110892	3	3	736	1	0	0	0	0	1	0	0	0	7339	333	12	3	977	3	HPR	16	72110892	Missense_Mutation	SNP	A	TCGA-KN-8430-01A-11D-2310-10	5168547	72110892	18243861	92	42699											
WDR59	79726	broad.mit.edu	37	16	74976691	74976691	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr16:74976691delT	ENST00000262144.6	-	7	609	c.479delA	c.(478-480)aatfs	p.N160fs		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	160										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						GCAGTTAGCATTTTTTTTATT	0.502																																																0													84	76	79					16																	74976691		2198	4300	6498	SO:0001589	frameshift_variant	79726			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.479delA	16.37:g.74976691delT	ENSP00000262144:p.Asn160fs		B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43	Frame_Shift_Del	DEL	ENST00000262144.6	37	CCDS32488.1																																																																																				0.502	WDR59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410601.3	NM_030581		-	74976691	T	-	74976691	7	5	736	1	0	1	0	1	0	0	0	0	17313	1493	52	0	2525	0	WDR59	16	74976691	Frame_Shift_Del	DEL	T	TCGA-KN-8430-01A-11D-2310-10	2865799	74976691	15378062	93	42700											
AP2B1	163	ucsc.edu	37	17	34044214	34044214	+	Splice_Site	SNP	A	A	G			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr17:34044214A>G	ENST00000262325.7	+	20	3138	c.2585A>G	c.(2584-2586)gAc>gGc	p.D862G	AP2B1_ENST00000589344.1_Splice_Site_p.D876G|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000537622.2_Splice_Site_p.D876G|AP2B1_ENST00000312678.8_Splice_Site_p.D876G|AP2B1_ENST00000592545.1_Splice_Site_p.D838G|AP2B1_ENST00000538556.1_Splice_Site_p.D805G	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	862	Interaction with ARRB1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	clathrin binding (GO:0030276)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		GTATTTCTAGACACTGTTTCC	0.398																																																0													107	100	103					17																	34044214		2203	4300	6503	SO:0001630	splice_region_variant	163			M34175	CCDS32621.1, CCDS32622.1	17q11.2-q12	2010-06-18			ENSG00000006125	ENSG00000006125			563	protein-coding gene	gene with protein product		601025		ADTB2, CLAPB1		8262066, 8595912	Standard	XM_005257937		Approved		uc002hjq.3	P63010		ENST00000262325.7:c.2585-1A>G	17.37:g.34044214A>G			A6NJP3|P21851|Q7Z451|Q96J19	Missense_Mutation	SNP	ENST00000262325.7	37	CCDS32622.1	.	.	.	.	.	.	.	.	.	.	A	19.07	3.755295	0.69648	.	.	ENSG00000006125	ENST00000262325;ENST00000312678;ENST00000538556;ENST00000537622;ENST00000545922	T;T;T;T	0.41758	1.26;1.26;0.99;1.26	5.86	5.86	0.93980	Coatomer/calthrin adaptor appendage, C-terminal subdomain (1);Clathrin adaptor, beta-adaptin, appendage, C-terminal subdomain (1);Beta2-adaptin/TATA-box binding, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.67477	0.2897	M	0.83483	2.645	0.80722	D	1	D;P;B;B	0.59357	0.985;0.486;0.001;0.001	D;P;B;B	0.74023	0.982;0.457;0.029;0.01	T	0.70502	-0.4854	9	.	.	.	.	15.7408	0.77894	1.0:0.0:0.0:0.0	.	613;838;862;876	F5GYG9;B4DWG4;P63010;P63010-2	.;.;AP2B1_HUMAN;.	G	862;876;805;876;613	ENSP00000262325:D862G;ENSP00000314414:D876G;ENSP00000440563:D805G;ENSP00000437413:D876G	.	D	+	2	0	AP2B1	31068327	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.367000	0.80283	0.528000	0.53228	GAC		0.398	AP2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448969.1		Missense_Mutation	G	34044214	A	G	34044214	5	3	736	1	0	0	0	0	0	0	1	0	741	289	10	3	2705	3	AP2B1	17	34044214	Splice_Site	SNP	A	TCGA-KN-8430-01A-11D-2310-10		34044214	47150996	94	42701											
HEXDC	284004	broad.mit.edu	37	17	80377733	80377733	+	Missense_Mutation	SNP	C	C	A			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr17:80377733C>A	ENST00000327949.9	+	1	69	c.58C>A	c.(58-60)Cca>Aca	p.P20T	OGFOD3_ENST00000313056.5_5'Flank|HEXDC_ENST00000337014.6_Missense_Mutation_p.P20T|Y_RNA_ENST00000364369.1_RNA|OGFOD3_ENST00000329197.5_5'Flank|HEXDC_ENST00000577944.1_Missense_Mutation_p.P20T			Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	20					carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	beta-N-acetylhexosaminidase activity (GO:0004563)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			TAAAGGAGCTCCACCAAAGGT	0.428																																																0													89	90	90					17																	80377733		1877	4092	5969	SO:0001583	missense	284004			AK074405	CCDS42402.1	17q25.3	2011-12-19			ENSG00000169660	ENSG00000169660			26307	protein-coding gene	gene with protein product						12477932	Standard	NM_173620		Approved	FLJ23825	uc002kev.4	Q8WVB3		ENST00000327949.9:c.58C>A	17.37:g.80377733C>A	ENSP00000332634:p.Pro20Thr		B7UUP6|Q8IYN4|Q8TE81	Missense_Mutation	SNP	ENST00000327949.9	37		.	.	.	.	.	.	.	.	.	.	C	18.36	3.607611	0.66558	.	.	ENSG00000169660	ENST00000337014;ENST00000327949	D;D	0.90133	-2.62;-2.62	4.97	4.97	0.65823	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.144606	0.46442	D	0.000281	D	0.94997	0.8381	M	0.83603	2.65	0.58432	D	0.999998	D;D	0.76494	0.996;0.999	D;D	0.72982	0.935;0.979	D	0.93758	0.7064	10	0.30078	T	0.28	-22.7356	15.7781	0.78240	0.0:1.0:0.0:0.0	.	20;20	Q8WVB3;Q8WVB3-2	HEXDC_HUMAN;.	T	20	ENSP00000337854:P20T;ENSP00000332634:P20T	ENSP00000332634:P20T	P	+	1	0	HEXDC	77971022	0.946000	0.32159	0.252000	0.24328	0.687000	0.40016	3.236000	0.51336	2.568000	0.86640	0.655000	0.94253	CCA		0.428	HEXDC-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000443513.1	NM_173620		A	80377733	C	A	80377733	3	1	736	1	0	0	0	0	1	0	0	0	7077	855	30	4	60	4	HEXDC	17	80377733	Missense_Mutation	SNP	C	TCGA-KN-8430-01A-11D-2310-10	46333519	80377733	817477	95	42702											
SIGLEC15	284266	ucsc.edu	37	18	43418922	43418922	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr18:43418922T>C	ENST00000389474.3	+	4	953	c.736T>C	c.(736-738)Tcc>Ccc	p.S246P	SIGLEC15_ENST00000587418.1_Silent_p.A15A|SIGLEC15_ENST00000602118.2_3'UTR|SIGLEC15_ENST00000546268.1_Missense_Mutation_p.S92P	NM_213602.2	NP_998767.1	Q6ZMC9	SIG15_HUMAN	sialic acid binding Ig-like lectin 15	246	Ig-like C2-type.				cellular response to lipoprotein particle stimulus (GO:0071402)|innate immune response (GO:0045087)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of bone resorption (GO:0045124)|regulation of osteoclast development (GO:2001204)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)				endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						CCTGGGCCGCTCCGAGGCCAG	0.706																																																0													10	12	11					18																	43418922		2096	4142	6238	SO:0001583	missense	284266			AK095432	CCDS32819.1	18q21.1	2014-01-28	2007-05-31	2007-05-31	ENSG00000197046	ENSG00000197046		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	27596	protein-coding gene	gene with protein product			"CD33 antigen-like 3", "CD33 molecule-like 3"	CD33L3		17483134	Standard	NM_213602		Approved	HsT1361	uc002lbl.1	Q6ZMC9		ENST00000389474.3:c.736T>C	18.37:g.43418922T>C	ENSP00000374125:p.Ser246Pro		A8K2Y5|B4DVQ9	Missense_Mutation	SNP	ENST00000389474.3	37	CCDS32819.1	.	.	.	.	.	.	.	.	.	.	T	15.34	2.804493	0.50315	.	.	ENSG00000197046	ENST00000389474;ENST00000546268	T;T	0.73258	2.7;-0.73	4.63	0.601	0.17529	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.227470	0.36444	N	0.002590	T	0.61211	0.2329	L	0.57536	1.79	0.23893	N	0.996547	B	0.28400	0.21	B	0.30251	0.113	T	0.54084	-0.8346	10	0.52906	T	0.07	-9.3574	5.9974	0.19501	0.1501:0.0:0.575:0.2749	.	246	Q6ZMC9	SIG15_HUMAN	P	246;92	ENSP00000374125:S246P;ENSP00000443509:S92P	ENSP00000374125:S246P	S	+	1	0	SIGLEC15	41672920	0.650000	0.27331	0.945000	0.38365	0.961000	0.63080	2.248000	0.43160	-0.075000	0.12798	-0.648000	0.03929	TCC		0.706	SIGLEC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410768.2	NM_213602		C	43418922	T	C	43418922	3	2	736	1	0	0	0	0	1	0	0	0	14316	1551	54	3	750	3	SIGLEC15	18	43418922	Missense_Mutation	SNP	T	TCGA-KN-8430-01A-11D-2310-10		43418922	34658326	96	42703											
PPAP2C	8612	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	288028	288028	+	Missense_Mutation	SNP	C	C	T	rs148329482	byFrequency	TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr19:288028C>T	ENST00000269812.3	-	2	245	c.196G>A	c.(196-198)Gtc>Atc	p.V66I	PPAP2C_ENST00000434325.2_Missense_Mutation_p.V10I|PPAP2C_ENST00000327790.3_Missense_Mutation_p.V87I	NM_003712.2|NM_177526.1	NP_003703.1|NP_803545.1	O43688	LPP2_HUMAN	phosphatidic acid phosphatase type 2C	66					dephosphorylation (GO:0016311)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)|phosphoprotein phosphatase activity (GO:0004721)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)|skin(1)	5		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)		ACAAGGATGACGGTGGCCGTG	0.642													.|||	6	0.00119808	0.0	0.0	5008	,	,		12700	0.0		0.006	False		,,,				2504	0.0															0								C	ILE/VAL,ILE/VAL,ILE/VAL	1,4405	824.9+/-416.5	0,1,2202	113	99	104		196,28,259	-3.8	0	19	dbSNP_134	104	0,8600		0,0,4300	yes	missense,missense,missense	PPAP2C	NM_003712.2,NM_177526.1,NM_177543.1	29,29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign	66/289,10/233,87/310	288028	1,13005	2203	4300	6503	SO:0001583	missense	8612			AF035959	CCDS12023.1, CCDS12024.1, CCDS45889.1	19p13	2009-05-27				ENSG00000141934	3.1.3.4		9230	protein-coding gene	gene with protein product		607126				9570154, 9607309	Standard	NM_177543		Approved	PAP-2c, LPP2	uc002loh.3	O43688		ENST00000269812.3:c.196G>A	19.37:g.288028C>T	ENSP00000269812:p.Val66Ile		A6NLV0|E9PAY8	Missense_Mutation	SNP	ENST00000269812.3	37	CCDS12023.1	6	0.0027472527472527475	0	0.0	0	0.0	0	0.0	6	0.0079155672823219	T	0.525	-0.860463	0.02610	2.27E-4	0.0	ENSG00000141934	ENST00000269812;ENST00000327790;ENST00000434325	T;T;T	0.74632	-0.86;-0.83;1.61	4.44	-3.8	0.04307	.	0.415488	0.22661	N	0.057186	T	0.38214	0.1032	N	0.17631	0.505	0.09310	N	1	B;B	0.17038	0.0;0.02	B;B	0.13407	0.001;0.009	T	0.44236	-0.9341	10	0.02654	T	1	-8.3324	7.8963	0.29708	0.0:0.6408:0.1073:0.2519	.	66;87	O43688;O43688-2	LPP2_HUMAN;.	I	66;87;10	ENSP00000269812:V66I;ENSP00000329697:V87I;ENSP00000388565:V10I	ENSP00000269812:V66I	V	-	1	0	PPAP2C	239028	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.062000	0.03468	-0.363000	0.08101	-1.796000	0.00623	GTC		0.642	PPAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451777.2			T	288028	C	T	288028	3	4	736	1	0	0	0	0	1	0	0	0	12294	536	19	1	690	1	PPAP2C	19	288028	Missense_Mutation	SNP	C	TCGA-KN-8430-01A-11D-2310-10		288028	58840955	97	42704											
DPP9	91039	bcgsc.ca	37	19	4719881	4719881	+	5'UTR	SNP	T	T	C			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr19:4719881T>C	ENST00000598800.1	-	0	258				DPP9_ENST00000597849.1_Missense_Mutation_p.N13S|DPP9_ENST00000262960.9_Missense_Mutation_p.N13S			Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9							cytoplasm (GO:0005737)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|identical protein binding (GO:0042802)|serine-type peptidase activity (GO:0008236)			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		ACTTCCGGTGTTCTCCTTGTC	0.577																																																0													106	104	105					19																	4719881		692	1591	2283	SO:0001623	5_prime_UTR_variant	91039			AF452102	CCDS45928.1	19p13.3	2014-06-11	2006-01-12		ENSG00000142002	ENSG00000142002			18648	protein-coding gene	gene with protein product		608258	"dipeptidylpeptidase 9"				Standard	NM_139159		Approved		uc002mba.3	Q86TI2	OTTHUMG00000182040	ENST00000598800.1:c.-248A>G	19.37:g.4719881T>C			O75273|O75868|Q1ZZB8|Q6AI37|Q6UAL0|Q6ZMT2|Q6ZNJ5|Q8N2J7|Q8N3F5|Q8WXD8|Q96NT8|Q9BVR3	Missense_Mutation	SNP	ENST00000598800.1	37		.	.	.	.	.	.	.	.	.	.	T	9.005	0.980970	0.18812	.	.	ENSG00000142002	ENST00000357909;ENST00000381797;ENST00000262960	T	0.28895	1.59	3.29	0.804	0.18697	.	0.204155	0.28712	N	0.014387	T	0.11707	0.0285	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.12156	0.007	T	0.16630	-1.0396	10	0.26408	T	0.33	-11.1953	3.6575	0.08226	0.1805:0.0:0.3564:0.463	.	13	Q1ZZB8	.	S	92;92;13	ENSP00000262960:N13S	ENSP00000262960:N13S	N	-	2	0	DPP9	4670881	0.973000	0.33851	0.010000	0.14722	0.913000	0.54294	1.896000	0.39789	0.329000	0.23460	0.459000	0.35465	AAC		0.577	DPP9-026	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000459343.2			C	4719881	T	C	4719881	1	2	736	0	1	0	0	0	0	0	0	0	4735	1725	60	3		3	DPP9	19	4719881	5'UTR	SNP	T	TCGA-KN-8430-01A-11D-2310-10	4431853	4719881	54409102	98	42705											
MUC16	94025	mdanderson.org	37	19	9006370	9006370	+	Silent	SNP	A	A	G	rs79341062	byFrequency	TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr19:9006370A>G	ENST00000397910.4	-	45	39851	c.39648T>C	c.(39646-39648)taT>taC	p.Y13216Y	MUC16_ENST00000380951.5_5'Flank	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13218	SEA 8. {ECO:0000255|PROSITE- ProRule:PRU00188}.				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						TGCAGCCAGAATACAGAGGGC	0.522																																																0													104	85	91					19																	9006370		2007	4178	6185	SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.39648T>C	19.37:g.9006370A>G			Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	2.163	-0.391777	0.04932	.	.	ENSG00000181143	ENST00000542240	.	.	.	2.73	-2.09	0.07232	.	.	.	.	.	T	0.36799	0.0980	.	.	.	.	.	.	.	.	.	.	.	.	T	0.44544	-0.9321	3	.	.	.	-18.4462	7.5909	0.28021	0.6138:0.0:0.3862:0.0	.	.	.	.	T	56	.	.	I	-	2	0	MUC16	8867370	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-2.632000	0.00870	-0.715000	0.04968	-2.373000	0.00235	ATT		0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		G	9006370	A	G	9006370	2	3	736	1	0	0	0	0	0	0	0	1	9975	108	4	3		3	MUC16	19	9006370	Silent	SNP	A	TCGA-KN-8430-01A-11D-2310-10	4286489	9006370	50122613	99	42706											
MUC16	94025	broad.mit.edu	37	19	9049341	9049341	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr19:9049341T>C	ENST00000397910.4	-	5	32493	c.32290A>G	c.(32290-32292)Acg>Gcg	p.T10764A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10766	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						GAGGCTATCGTCTTTGGTTCA	0.478																																																0													139	128	131					19																	9049341		1936	4138	6074	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.32290A>G	19.37:g.9049341T>C	ENSP00000381008:p.Thr10764Ala		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	6.017	0.371456	0.11409	.	.	ENSG00000181143	ENST00000397910	T	0.02301	4.35	2.66	1.62	0.23740	.	.	.	.	.	T	0.02610	0.0079	L	0.34521	1.04	.	.	.	B	0.30068	0.267	B	0.37304	0.246	T	0.29852	-0.9998	8	0.87932	D	0	.	4.5679	0.12196	0.0:0.157:0.0:0.843	.	10764	B5ME49	.	A	10764	ENSP00000381008:T10764A	ENSP00000381008:T10764A	T	-	1	0	MUC16	8910341	0.001000	0.12720	0.000000	0.03702	0.009000	0.06853	0.303000	0.19210	0.440000	0.26502	0.388000	0.25769	ACG		0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		C	9049341	T	C	9049341	3	2	736	1	0	0	0	0	1	0	0	0	9975	1667	58	3	11553	3	MUC16	19	9049341	Missense_Mutation	SNP	T	TCGA-KN-8430-01A-11D-2310-10	42971	9049341	50079642	100	42707											
ANKLE1	126549	mdanderson.org	37	19	17393015	17393015	+	Missense_Mutation	SNP	C	C	T	rs1864116	byFrequency	TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr19:17393015C>T	ENST00000394458.3	+	2	488	c.212C>T	c.(211-213)gCt>gTt	p.A71V	ANKLE1_ENST00000594072.1_Missense_Mutation_p.A60V|ANKLE1_ENST00000433424.2_Missense_Mutation_p.A125V|ANKLE1_ENST00000598347.1_Missense_Mutation_p.A71V|ANKLE1_ENST00000404085.1_Missense_Mutation_p.A93V|CTD-2278I10.6_ENST00000596542.1_3'UTR	NM_152363.4	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	71			A -> V (in dbSNP:rs1864116). {ECO:0000269|PubMed:14702039, ECO:0000269|Ref.1}.							large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						GACCCCAACGCTCGGTAAGAT	0.741													C|||	3182	0.635383	0.798	0.5533	5008	,	,		8910	0.3125		0.834	False		,,,				2504	0.6022															0								C	VAL/ALA	2161,339		925,311,14	2	2	2		212	0.8	0.5	19	dbSNP_92	2	4508,662		1957,594,34	yes	missense	ANKLE1	NM_152363.4	64	2882,905,48	TT,TC,CC		12.8046,13.56,13.0508	probably-damaging	71/616	17393015	6669,1001	1250	2585	3835	SO:0001583	missense	126549			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.212C>T	19.37:g.17393015C>T	ENSP00000377971:p.Ala71Val		A8VU82|Q8N8J8	Missense_Mutation	SNP	ENST00000394458.3	37	CCDS12354.2	1399	0.6405677655677655	380	0.7723577235772358	218	0.6022099447513812	164	0.2867132867132867	637	0.8403693931398417	C	16.19	3.054076	0.55218	0.8644	0.871954	ENSG00000160117	ENST00000404261;ENST00000433424;ENST00000404085;ENST00000394458;ENST00000438921	T;T;T	0.67865	-0.29;-0.29;-0.29	4.15	0.796	0.18648	Ankyrin repeat-containing domain (4);	0.432303	0.19437	N	0.114285	T	0.00012	0.0000	N	0.20807	0.61	0.80722	P	0.0	B;B;B	0.15930	0.005;0.015;0.002	B;B;B	0.17722	0.016;0.015;0.019	T	0.27606	-1.0069	9	0.18710	T	0.47	-20.551	6.1339	0.20221	0.0:0.667:0.0:0.333	rs1864116;rs17238816;rs59648740;rs1864116	71;57;71	E7ETZ9;Q8NAG6-1;Q8NAG6	.;.;ANKL1_HUMAN	V	71;125;93;60;71	ENSP00000384753:A71V;ENSP00000394460:A125V;ENSP00000384008:A93V	ENSP00000377971:A60V	A	+	2	0	ANKLE1	17254015	0.002000	0.14202	0.527000	0.27925	0.842000	0.47809	0.606000	0.24194	0.078000	0.16900	0.555000	0.69702	GCT		0.741	ANKLE1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325392.2	NM_152363		T	17393015	C	T	17393015	3	4	736	1	0	0	0	0	1	0	0	0	632	797	28	2	218	2	ANKLE1	19	17393015	Missense_Mutation	SNP	C	TCGA-KN-8430-01A-11D-2310-10	8343674	17393015	41735968	101	42708											
INSL3	3640	mdanderson.org	37	19	17932190	17932190	+	Silent	SNP	T	T	C	rs1047233	byFrequency	TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr19:17932190T>C	ENST00000317306.7	-	1	142	c.126A>G	c.(124-126)ctA>ctG	p.L42L	INSL3_ENST00000379695.5_Silent_p.L42L	NM_005543.3	NP_005534.2	P51460	INSL3_HUMAN	insulin-like 3 (Leydig cell)	42					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cell-cell signaling (GO:0007267)|in utero embryonic development (GO:0001701)|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)|positive regulation of cell proliferation (GO:0008284)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|perinuclear region of cytoplasm (GO:0048471)	insulin receptor binding (GO:0005158)|protease binding (GO:0002020)|receptor binding (GO:0005102)			breast(1)|lung(1)	2						ACACGCGCACTAGCGCGCGTA	0.721													C|||	1288	0.257188	0.3941	0.3127	5008	,	,		12303	0.005		0.4076	False		,,,				2504	0.138															0								C		1224,2548		247,730,909	4	7	6		126	-1.9	1	19	dbSNP_86	6	2298,4938		486,1326,1806	no	coding-synonymous	INSL3	NM_005543.2		733,2056,2715	CC,CT,TT		31.7579,32.4496,31.9949		42/132	17932190	3522,7486	1886	3618	5504	SO:0001819	synonymous_variant	3640				CCDS12365.1, CCDS58655.1	19p13.2-p12	2013-02-26	2003-05-13			ENSG00000248099		"Endogenous ligands"	6086	protein-coding gene	gene with protein product	"prepro-INSL3"	146738	"relaxin-like factor"	RLNL		8020942	Standard	NM_001265587		Approved	RLF, MGC119818, MGC119819	uc010ebf.2	P51460		ENST00000317306.7:c.126A>G	19.37:g.17932190T>C			B4DZ72|G3XAG0|Q3KPI5|Q3KPI6|Q6YNB5|Q9UEA2|Q9UPH6	Silent	SNP	ENST00000317306.7	37	CCDS12365.1																																																																																				0.721	INSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466836.1	NM_005543		C	17932190	T	C	17932190	2	2	736	1	0	0	0	0	0	0	0	1	7769	1509	53	3		3	INSL3	19	17932190	Silent	SNP	T	TCGA-KN-8430-01A-11D-2310-10	539175	17932190	41196793	102	42709											
TSHZ3	57616	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	31768447	31768447	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr19:31768447A>G	ENST00000240587.4	-	2	2579	c.2252T>C	c.(2251-2253)tTc>tCc	p.F751S		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	751					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)					GCTCATCTTGAAAAGCATGCT	0.602																																																0													60	62	61					19																	31768447		2203	4300	6503	SO:0001583	missense	57616			AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	30700	protein-coding gene	gene with protein product	"teashirt 3"	614119	"zinc finger protein 537", "teashirt family zinc finger 3"	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.2252T>C	19.37:g.31768447A>G	ENSP00000240587:p.Phe751Ser		Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	A	15.59	2.877495	0.51801	.	.	ENSG00000121297	ENST00000240587	T	0.39406	1.08	5.37	5.37	0.77165	.	0.051638	0.85682	D	0.000000	T	0.49643	0.1569	N	0.22421	0.69	0.58432	D	0.999999	D	0.65815	0.995	D	0.72982	0.979	T	0.46582	-0.9181	10	0.33141	T	0.24	-30.3567	15.3715	0.74568	1.0:0.0:0.0:0.0	.	751	Q63HK5	TSH3_HUMAN	S	751	ENSP00000240587:F751S	ENSP00000240587:F751S	F	-	2	0	TSHZ3	36460287	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	8.930000	0.92872	2.024000	0.59613	0.533000	0.62120	TTC		0.602	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		G	31768447	A	G	31768447	3	3	736	1	0	0	0	0	1	0	0	0	16630	246	9	3	997	3	TSHZ3	19	31768447	Missense_Mutation	SNP	A	TCGA-KN-8430-01A-11D-2310-10	13836257	31768447	27360536	103	42710											
ZFP30	22835	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	38127148	38127148	+	Missense_Mutation	SNP	C	C	A			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr19:38127148C>A	ENST00000351218.2	-	6	851	c.294G>T	c.(292-294)atG>atT	p.M98I	ZFP30_ENST00000392144.1_Missense_Mutation_p.M98I|ZFP30_ENST00000589018.1_Intron|ZFP30_ENST00000514101.2_Missense_Mutation_p.M98I	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	ZFP30 zinc finger protein	98					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAGATAAGTTCATTTCATAAA	0.343																																																0													45	44	44					19																	38127148		2203	4299	6502	SO:0001583	missense	22835			AB023178	CCDS33005.1	19q13.13	2013-01-08	2012-11-27		ENSG00000120784	ENSG00000120784		"Zinc fingers, C2H2-type", "-"	29555	protein-coding gene	gene with protein product			"zinc finger protein 30 homolog (mouse)"			10231032	Standard	NM_014898		Approved	ZNF745, KIAA0961	uc002ogx.1	Q9Y2G7	OTTHUMG00000048177	ENST00000351218.2:c.294G>T	19.37:g.38127148C>A	ENSP00000343581:p.Met98Ile		Q58EY8	Missense_Mutation	SNP	ENST00000351218.2	37	CCDS33005.1	.	.	.	.	.	.	.	.	.	.	C	1.877	-0.458894	0.04508	.	.	ENSG00000120784	ENST00000351218;ENST00000514101;ENST00000392144;ENST00000440715	T;T;T	0.04758	3.56;3.56;3.56	3.82	-2.98	0.05513	.	0.679876	0.12433	N	0.469377	T	0.01320	0.0043	N	0.01493	-0.835	0.22412	N	0.999124	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.45948	-0.9226	10	0.19590	T	0.45	.	2.0782	0.03629	0.2677:0.4359:0.1246:0.1718	.	98;98	D3Y2A0;Q9Y2G7	.;ZFP30_HUMAN	I	98;98;98;97	ENSP00000343581:M98I;ENSP00000422930:M98I;ENSP00000375988:M98I	ENSP00000343581:M98I	M	-	3	0	ZFP30	42818988	0.145000	0.22656	0.979000	0.43373	0.964000	0.63967	-0.420000	0.07062	-0.269000	0.09298	0.561000	0.74099	ATG		0.343	ZFP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109601.2	NM_014898		A	38127148	C	A	38127148	3	1	736	1	0	0	0	0	1	0	0	0	17649	826	29	4	1269	4	ZFP30	19	38127148	Missense_Mutation	SNP	C	TCGA-KN-8430-01A-11D-2310-10	6358701	38127148	21001835	104	42711											
NR1H2	7376	ucsc.edu	37	19	50881825	50881825	+	Silent	SNP	G	G	A	rs55817866	byFrequency	TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr19:50881825G>A	ENST00000253727.5	+	6	754	c.519G>A	c.(517-519)caG>caA	p.Q173Q	NR1H2_ENST00000411902.2_Silent_p.Q76Q|NR1H2_ENST00000593926.1_Silent_p.Q173Q|NR1H2_ENST00000542413.1_5'UTR|NR1H2_ENST00000599105.1_Silent_p.Q173Q|NR1H2_ENST00000598168.1_Silent_p.Q173Q	NM_007121.5	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	173					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)		TTCGGAAACAGCAGCAGGAGT	0.637																																																0													38	47	44					19																	50881825		2140	4249	6389	SO:0001819	synonymous_variant	7376			U14534	CCDS42593.1, CCDS58673.1	19q13.3	2013-01-16				ENSG00000131408		"Nuclear hormone receptors"	7965	protein-coding gene	gene with protein product	"liver X receptor-beta"	600380	"ubiquitously-expressed nuclear receptor"	UNR		7782080, 7971966	Standard	NM_007121		Approved	NER, NER-I, RIP15, LXR-b	uc010enw.4	P55055		ENST00000253727.5:c.519G>A	19.37:g.50881825G>A			A8K490|B4DNM6|E7EWA6|Q12970|Q5I0Y1	Silent	SNP	ENST00000253727.5	37	CCDS42593.1																																																																																				0.637	NR1H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464724.2			A	50881825	G	A	50881825	2	1	736	1	0	0	0	0	0	0	0	1	10619	962	34	2		2	NR1H2	19	50881825	Silent	SNP	G	TCGA-KN-8430-01A-11D-2310-10	12754677	50881825	8247158	105	42712											
LILRA1	11024	mdanderson.org	37	19	55106239	55106239	+	Silent	SNP	G	G	A			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr19:55106239G>A	ENST00000251372.3	+	4	362	c.180G>A	c.(178-180)ctG>ctA	p.L60L	LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000453777.1_Silent_p.L60L|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000473156.1_3'UTR	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	60	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)	p.L60L(3)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		AGTACCGTCTGTATAGAGAAA	0.572																																																3	Substitution - coding silent(3)	kidney(3)											124	119	121					19																	55106239		2203	4300	6503	SO:0001819	synonymous_variant	11024			AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.180G>A	19.37:g.55106239G>A			O75018|Q3MJA6	Silent	SNP	ENST00000251372.3	37	CCDS12901.1																																																																																				0.572	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863		A	55106239	G	A	55106239	2	1	736	1	0	0	0	0	0	0	0	1	8786	1364	48	2		2	LILRA1	19	55106239	Silent	SNP	G	TCGA-KN-8430-01A-11D-2310-10	4224414	55106239	4022744	106	42713											
COL20A1	57642	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	20	61926524	61926524	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr20:61926524G>T	ENST00000358894.6	+	2	165	c.65G>T	c.(64-66)gGa>gTa	p.G22V	COL20A1_ENST00000422202.1_Missense_Mutation_p.G22V|COL20A1_ENST00000326996.6_Missense_Mutation_p.G22V|COL20A1_ENST00000435874.1_Missense_Mutation_p.G22V	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	22					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)					GCCACCCTGGGAAGAGAGCAA	0.697																																																0													13	17	16					20																	61926524		1985	4080	6065	SO:0001583	missense	57642			BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"Collagens", "Fibronectin type III domain containing"	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.65G>T	20.37:g.61926524G>T	ENSP00000351767:p.Gly22Val		Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Missense_Mutation	SNP	ENST00000358894.6	37	CCDS46628.1	.	.	.	.	.	.	.	.	.	.	G	6.546	0.468969	0.12461	.	.	ENSG00000101203	ENST00000358894;ENST00000326996;ENST00000435874;ENST00000422202	D;D;D;D	0.86164	-2.08;-2.05;-1.98;-1.98	2.84	1.79	0.24919	.	0.173457	0.37261	U	0.002171	T	0.74824	0.3767	L	0.28274	0.84	0.09310	N	0.999998	B	0.30068	0.267	B	0.22386	0.039	T	0.63233	-0.6683	10	0.40728	T	0.16	.	7.8695	0.29556	0.0:0.3747:0.6253:0.0	.	22	Q9P218	COKA1_HUMAN	V	22	ENSP00000351767:G22V;ENSP00000323077:G22V;ENSP00000408690:G22V;ENSP00000414753:G22V	ENSP00000323077:G22V	G	+	2	0	COL20A1	61396969	0.281000	0.24258	0.008000	0.14137	0.006000	0.05464	0.941000	0.29005	0.404000	0.25506	0.313000	0.20887	GGA		0.697	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882		T	61926524	G	T	61926524	3	4	736	1	0	0	0	0	1	0	0	0	3681	1174	41	4	67	4	COL20A1	20	61926524	Missense_Mutation	SNP	G	TCGA-KN-8430-01A-11D-2310-10		61926524	1098996	107	42714											
DSCAM	1826	bcgsc.ca	37	21	41719789	41719789	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr21:41719789T>C	ENST00000400454.1	-	6	1495	c.1018A>G	c.(1018-1020)Act>Gct	p.T340A		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	340	Ig-like C2-type 4.				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)				TGGTCCTCAGTTCCTGTCACG	0.493																																					Melanoma(134;970 1778 1785 21664 32388)											0													153	139	144					21																	41719789		1948	4154	6102	SO:0001583	missense	1826			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.1018A>G	21.37:g.41719789T>C	ENSP00000383303:p.Thr340Ala		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	T	13.39	2.223647	0.39300	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.66995	-0.24;-0.24	5.58	1.76	0.24704	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.364917	0.31859	N	0.006951	T	0.53562	0.1804	L	0.46157	1.445	0.21822	N	0.999522	B	0.23128	0.08	B	0.28465	0.09	T	0.37596	-0.9699	10	0.20519	T	0.43	.	6.4105	0.21688	0.26:0.0672:0.0:0.6728	.	340	O60469	DSCAM_HUMAN	A	340;92	ENSP00000383303:T340A;ENSP00000385342:T92A	ENSP00000383303:T340A	T	-	1	0	DSCAM	40641659	1.000000	0.71417	0.800000	0.32199	0.977000	0.68977	2.985000	0.49362	0.045000	0.15804	-0.438000	0.05819	ACT		0.493	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		C	41719789	T	C	41719789	3	2	736	1	0	0	0	0	1	0	0	0	4770	1725	60	3	5132	3	DSCAM	21	41719789	Missense_Mutation	SNP	T	TCGA-KN-8430-01A-11D-2310-10		41719789	6410106	108	42715											
KRTAP10-5	386680	broad.mit.edu	37	21	46000294	46000294	+	Silent	SNP	C	C	T	rs201287112		TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr21:46000294C>T	ENST00000400372.1	-	1	187	c.162G>A	c.(160-162)gcG>gcA	p.A54A	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	54	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						GCTCACAGGCCGCCTGGCAGC	0.716													.|||	1	0.000199681	0.0008	0.0	5008	,	,		17574	0.0		0.0	False		,,,				2504	0.0															0													30	36	34					21																	46000294		2190	4281	6471	SO:0001819	synonymous_variant	386680			AJ566384	CCDS42958.1	21q22.3	2007-10-05			ENSG00000241123	ENSG00000241123		"Keratin associated proteins"	22969	protein-coding gene	gene with protein product				KRTAP18-5			Standard	NM_198694		Approved	KAP10.5, KAP18.5	uc002zfl.1	P60370	OTTHUMG00000057638	ENST00000400372.1:c.162G>A	21.37:g.46000294C>T			Q0VAR7|Q0VAR8|Q70LJ3	Silent	SNP	ENST00000400372.1	37	CCDS42958.1																																																																																				0.716	KRTAP10-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128042.1			T	46000294	C	T	46000294	2	4	736	1	0	0	0	0	0	0	0	1	8514	639	23	1		1	KRTAP10-5	21	46000294	Silent	SNP	C	TCGA-KN-8430-01A-11D-2310-10	4280505	46000294	2129601	109	42716											
CLTCL1	8218	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	22	19175230	19175230	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr22:19175230G>A	ENST00000263200.10	-	29	4517	c.4445C>T	c.(4444-4446)gCa>gTa	p.A1482V	CLTCL1_ENST00000353891.5_Intron|CLTCL1_ENST00000442042.2_Intron|CLTCL1_ENST00000427926.1_Missense_Mutation_p.A1482V	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1482	Heavy chain arm.|Involved in binding clathrin light chain. {ECO:0000250}.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					ATCGATAGATGCCCTTAAGCC	0.522			T	?	ALCL																																		Dom	yes		22	22q11.21	8218	"clathrin, heavy polypeptide-like 1"		L	0													55	56	56					22																	19175230		2041	4191	6232	SO:0001583	missense	8218				CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"clathrin, heavy polypeptide-like 1"	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.4445C>T	22.37:g.19175230G>A	ENSP00000445677:p.Ala1482Val		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	37	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	G	13.10	2.136704	0.37728	.	.	ENSG00000070371	ENST00000263200;ENST00000427926	T;T	0.22539	1.95;1.95	3.97	3.97	0.46021	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.213152	0.39146	N	0.001446	T	0.21841	0.0526	L	0.45581	1.43	0.54753	D	0.999989	B	0.14805	0.011	B	0.18871	0.023	T	0.05257	-1.0896	10	0.41790	T	0.15	-1.1575	16.2212	0.82258	0.0:0.0:1.0:0.0	.	1482	P53675	CLH2_HUMAN	V	1482	ENSP00000445677:A1482V;ENSP00000441158:A1482V	ENSP00000445677:A1482V	A	-	2	0	CLTCL1	17555230	1.000000	0.71417	0.626000	0.29213	0.216000	0.24613	4.814000	0.62627	2.043000	0.60533	0.650000	0.86243	GCA		0.522	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		A	19175230	G	A	19175230	3	1	736	1	0	0	0	0	1	0	0	0	3569	1319	46	2	493	2	CLTCL1	22	19175230	Missense_Mutation	SNP	G	TCGA-KN-8430-01A-11D-2310-10		19175230	32129336	110	42717											
KREMEN1	83999	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	22	29517360	29517360	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr22:29517360G>T	ENST00000407188.1	+	4	362	c.362G>T	c.(361-363)gGc>gTc	p.G121V	KREMEN1_ENST00000400335.4_Missense_Mutation_p.G123V|KREMEN1_ENST00000400338.2_Missense_Mutation_p.G123V|KREMEN1_ENST00000327813.5_Missense_Mutation_p.G123V			Q96MU8	KREM1_HUMAN	kringle containing transmembrane protein 1	121	WSC. {ECO:0000255|PROSITE- ProRule:PRU00558}.				cell communication (GO:0007154)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	20						GGAAACCTTGGCTGCTACAAG	0.428																																																0													93	94	94					22																	29517360		2109	4236	6345	SO:0001583	missense	83999			AB059618	CCDS43000.1, CCDS13849.1, CCDS43000.2	22q12.1	2008-03-27	2002-11-13	2002-11-15	ENSG00000183762	ENSG00000183762			17550	protein-coding gene	gene with protein product		609898	"kringle containing transmembrane protein"	KREMEN		11267660	Standard	NM_001039570		Approved	KRM1	uc011akm.1	Q96MU8	OTTHUMG00000030987	ENST00000407188.1:c.362G>T	22.37:g.29517360G>T	ENSP00000385431:p.Gly121Val		B0QY46|B0QY47|B1AJR5|Q5TIB9|Q6P3X6|Q9BY70|Q9UGS5|Q9UGU1	Missense_Mutation	SNP	ENST00000407188.1	37	CCDS43000.2	.	.	.	.	.	.	.	.	.	.	G	22.9	4.350252	0.82132	.	.	ENSG00000183762	ENST00000400335;ENST00000400338;ENST00000327813;ENST00000407188	T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26	5.14	5.14	0.70334	Carbohydrate-binding WSC (2);Kringle-like fold (1);	0.000000	0.64402	D	0.000006	D	0.88247	0.6385	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;1.0;0.999	D	0.91893	0.5525	10	0.62326	D	0.03	.	16.4852	0.84182	0.0:0.0:1.0:0.0	.	121;123;123	Q96MU8;Q96MU8-2;Q96MU8-3	KREM1_HUMAN;.;.	V	123;123;123;121	ENSP00000383189:G123V;ENSP00000383192:G123V;ENSP00000331242:G123V;ENSP00000385431:G121V	ENSP00000331242:G123V	G	+	2	0	KREMEN1	27847360	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.201000	0.95017	2.566000	0.86566	0.563000	0.77884	GGC		0.428	KREMEN1-004	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320947.1			T	29517360	G	T	29517360	3	4	736	1	0	0	0	0	1	0	0	0	8444	1203	42	4	382	4	KREMEN1	22	29517360	Missense_Mutation	SNP	G	TCGA-KN-8430-01A-11D-2310-10	10342130	29517360	21787206	111	42718											
USP9Y	8287	broad.mit.edu	37	Y	14888667	14888667	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chrY:14888667delA	ENST00000338981.3	+	19	3457	c.2512delA	c.(2512-2514)aaafs	p.K838fs	USP9Y_ENST00000426564.2_3'UTR	NM_004654.3	NP_004645.2	O00507	USP9Y_HUMAN	ubiquitin specific peptidase 9, Y-linked	838					BMP signaling pathway (GO:0030509)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)	co-SMAD binding (GO:0070410)|cysteine-type peptidase activity (GO:0008234)|ubiquitin-specific protease activity (GO:0004843)			kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TGATGGTGACAAAAACAGCAT	0.328																																																0																																										SO:0001589	frameshift_variant	8287			Y13618	CCDS14781.1	Yq11.2	2010-04-09	2009-03-17		ENSG00000114374	ENSG00000114374		"Ubiquitin-specific peptidases"	12633	protein-coding gene	gene with protein product	"fat facets-like homolog (Drosophila)"	400005	"ubiquitin specific peptidase 9, Y-linked (fat facets-like, Drosophila)"			8922996, 9384609, 19246359	Standard	NM_004654		Approved	DFFRY	uc004fst.1	O00507	OTTHUMG00000036469	ENST00000338981.3:c.2512delA	Y.37:g.14888667delA	ENSP00000342812:p.Lys838fs		O14601	Frame_Shift_Del	DEL	ENST00000338981.3	37	CCDS14781.1																																																																																				0.328	USP9Y-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088703.2	NM_004654		-	14888667	A	-	14888667	7	5	736	1	0	1	0	1	0	0	0	0	17096	131	5	0	2578	0	USP9Y	24	14888667	Frame_Shift_Del	DEL	A	TCGA-KN-8430-01A-11D-2310-10		14888667	44484899	112	42719											
CLCNKB	1188	broad.mit.edu	37	1	16383402	16383402	+	Silent	SNP	C	C	T	rs6698427		TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr1:16383402C>T	ENST00000375679.4	+	20	2166	c.2055C>T	c.(2053-2055)gcC>gcT	p.A685A	FAM131C_ENST00000494078.1_5'Flank|CLCNKB_ENST00000375667.3_Silent_p.A515A	NM_000085.4	NP_000076.2	P51801	CLCKB_HUMAN	chloride channel, voltage-sensitive Kb	685					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)		ATCCGCCAGCCCCAAAGTGAG	0.587																																																0													66	64	65					1																	16383402		2203	4300	6503	SO:0001819	synonymous_variant	1188			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.2055C>T	1.37:g.16383402C>T			B3KUY3|Q5T5Q7|Q5T5Q8	Silent	SNP	ENST00000375679.4	37	CCDS168.1																																																																																				0.587	CLCNKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026331.1	NM_000085		T	16383402	C	T	16383402	2	4	737	1	0	0	0	0	0	0	0	1	3472	610	22	2		2	CLCNKB	1	16383402	Silent	SNP	C	TCGA-KN-8431-01A-11D-2310-10		16383402	232867219	1	42720											
USP48	84196	mdanderson.org	37	1	22109370	22109370	+	Silent	SNP	G	G	A	rs10917042	byFrequency	TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr1:22109370G>A	ENST00000308271.9	-	1	729	c.81C>T	c.(79-81)caC>caT	p.H27H	USP48_ENST00000400301.1_Silent_p.H27H|USP48_ENST00000421625.2_Silent_p.H27H|USP48_ENST00000529637.1_Silent_p.H27H	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	27					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)		CGGTCTCGATGTGCTCCTGCG	0.736													G|||	1411	0.281749	0.028	0.5274	5008	,	,		12624	0.5893		0.2197	False		,,,				2504	0.1973															0								G	,	275,4053		11,253,1900	18	16	17		81,81	0.8	1	1	dbSNP_120	17	1858,6642		203,1452,2595	no	coding-synonymous,coding-synonymous	USP48	NM_001032730.1,NM_032236.5	,	214,1705,4495	AA,AG,GG		21.8588,6.354,16.6277	,	27/486,27/1036	22109370	2133,10695	2164	4250	6414	SO:0001819	synonymous_variant	84196			AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"Ubiquitin-specific peptidases"	18533	protein-coding gene	gene with protein product			"ubiquitin specific protease 31", "ubiquitin specific protease 48"	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.81C>T	1.37:g.22109370G>A			B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Silent	SNP	ENST00000308271.9	37	CCDS30623.1																																																																																				0.736	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021372.1	NM_032236		A	22109370	G	A	22109370	2	1	737	1	0	0	0	0	0	0	0	1	17084	1368	48	2		2	USP48	1	22109370	Silent	SNP	G	TCGA-KN-8431-01A-11D-2310-10	5725968	22109370	227141251	2	42721											
C1orf213	80818	broad.mit.edu;hgsc.bcm.edu	37	1	23696027	23696028	+	5'Flank	INS	-	-	T	rs372720347|rs147377149		TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr1:23696027_23696028insT	ENST00000314011.4	-	0	0				Y_RNA_ENST00000364535.1_RNA|C1orf213_ENST00000335648.3_Frame_Shift_Ins_p.L80fs|ZNF436_ENST00000374608.3_5'Flank|C1orf213_ENST00000454117.1_Intron|C1orf213_ENST00000518821.1_Intron|C1orf213_ENST00000458053.1_Intron|C1orf213_ENST00000437367.2_Intron	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN	zinc finger protein 436						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)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		AATTCGTAGACTTGCAGGCGAA	0.564																																																0																																										SO:0001631	upstream_gene_variant	148898			AB051497	CCDS233.1	1p36	2013-01-08			ENSG00000125945	ENSG00000125945		"Zinc fingers, C2H2-type", "-"	20814	protein-coding gene	gene with protein product		611703				11214970	Standard	NM_001077195		Approved	KIAA1710, Zfp46	uc001bgt.3	Q9C0F3	OTTHUMG00000003232		1.37:g.23696029_23696029dupT	Exception_encountered		Q658I9	RNA	INS	ENST00000314011.4	37	CCDS233.1																																																																																				0.564	ZNF436-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008908.1	NM_030634		T	23696028	-	T	23696027	6	5	737	0	1	1	1	0	0	0	0	0	2032	564	20	0		0	C1orf213	1	23696027	5'Flank	INS	-	TCGA-KN-8431-01A-11D-2310-10	1586657	23696027	225554594	3	42722	400	2									
C1orf213	80818	bcgsc.ca	37	1	23696028	23696029	+	5'Flank	INS	-	-	T	rs147377149		TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr1:23696028_23696029insT	ENST00000314011.4	-	0	0				Y_RNA_ENST00000364535.1_RNA|C1orf213_ENST00000335648.3_Frame_Shift_Ins_p.L80fs|ZNF436_ENST00000374608.3_5'Flank|C1orf213_ENST00000454117.1_Intron|C1orf213_ENST00000518821.1_Intron|C1orf213_ENST00000458053.1_Intron|C1orf213_ENST00000437367.2_Intron	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN	zinc finger protein 436						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)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		ATTCGTAGACTTGCAGGCGAAG	0.569																																																0																																										SO:0001631	upstream_gene_variant	148898			AB051497	CCDS233.1	1p36	2013-01-08			ENSG00000125945	ENSG00000125945		"Zinc fingers, C2H2-type", "-"	20814	protein-coding gene	gene with protein product		611703				11214970	Standard	NM_001077195		Approved	KIAA1710, Zfp46	uc001bgt.3	Q9C0F3	OTTHUMG00000003232		1.37:g.23696029_23696029dupT	Exception_encountered		Q658I9	RNA	INS	ENST00000314011.4	37	CCDS233.1																																																																																				0.569	ZNF436-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008908.1	NM_030634		T	23696029	-	T	23696028	6	5	737	0	1	1	1	0	0	0	0	0	2032	1606	56	0		0	C1orf213	1	23696028	5'Flank	INS	-	TCGA-KN-8431-01A-11D-2310-10	1	23696028	225554593	4	42723	400	2									
OR2T33	391195	mdanderson.org	37	1	248436932	248436932	+	Missense_Mutation	SNP	C	C	T	rs200639224		TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr1:248436932C>T	ENST00000318021.2	-	1	206	c.185G>A	c.(184-186)aGc>aAc	p.S62N		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	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(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)			GGAAAGTTGGCTCAGGAGGAA	0.542																																																0								C	ASN/SER	2,4402		0,2,2200	83	75	78		185	2.7	1	1		78	0,8600		0,0,4300	no	missense	OR2T33	NM_001004695.1	46	0,2,6500	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	62/321	248436932	2,13002	2202	4300	6502	SO:0001583	missense	391195				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.185G>A	1.37:g.248436932C>T	ENSP00000324687:p.Ser62Asn		B2RNN0	Missense_Mutation	SNP	ENST00000318021.2	37	CCDS31109.1	18	0.008241758241758242	18	0.036585365853658534	0	0.0	0	0.0	0	0.0	-	10.52	1.373951	0.24857	4.54E-4	0.0	ENSG00000177212	ENST00000318021	T	0.00402	7.56	2.7	2.7	0.31948	GPCR, rhodopsin-like superfamily (1);	0.175206	0.27384	U	0.019616	T	0.00144	0.0004	M	0.88570	2.965	0.09310	N	1	B	0.20368	0.044	B	0.23716	0.048	T	0.50583	-0.8811	10	0.72032	D	0.01	.	2.1724	0.03853	0.1962:0.4885:0.1919:0.1235	.	62	Q8NG76	O2T33_HUMAN	N	62	ENSP00000324687:S62N	ENSP00000324687:S62N	S	-	2	0	OR2T33	246503555	0.000000	0.05858	0.974000	0.42286	0.950000	0.60333	-1.519000	0.02243	1.437000	0.47472	0.494000	0.49563	AGC		0.542	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695		T	248436932	C	T	248436932	3	4	737	1	0	0	0	0	1	0	0	0	11026	797	28	2	780	2	OR2T33	1	248436932	Missense_Mutation	SNP	C	TCGA-KN-8431-01A-11D-2310-10	224740904	248436932	813689	5	42724											
HADHB	3032	broad.mit.edu;bcgsc.ca	37	2	26502036	26502036	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr2:26502036A>G	ENST00000317799.5	+	9	768	c.664A>G	c.(664-666)Acc>Gcc	p.T222A	HADHB_ENST00000494615.1_3'UTR|HADHB_ENST00000405867.3_Intron|HADHB_ENST00000537713.1_Missense_Mutation_p.T207A|HADHB_ENST00000545822.1_Missense_Mutation_p.T200A	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	222					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)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrial envelope (GO:0005740)|mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acyltransferase activity (GO:0003988)|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)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACCAGTGAGACCATGGGCCA	0.537																																																0													101	97	98					2																	26502036		2203	4300	6503	SO:0001583	missense	3032				CCDS1722.1, CCDS62871.1, CCDS62872.1	2p23	2010-04-30	2010-04-30		ENSG00000138029	ENSG00000138029	2.3.1.16		4803	protein-coding gene	gene with protein product	"mitochondrial trifunctional protein, beta subunit"	143450	"hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit"			9605857	Standard	NM_000183		Approved	MTPB	uc002rgz.3	P55084	OTTHUMG00000096978	ENST00000317799.5:c.664A>G	2.37:g.26502036A>G	ENSP00000325136:p.Thr222Ala		B2RB16|B4E2W0|O14969|Q53TA6|Q96C77|Q9H3F5|Q9T2V8	Missense_Mutation	SNP	ENST00000317799.5	37	CCDS1722.1	.	.	.	.	.	.	.	.	.	.	A	19.07	3.756867	0.69648	.	.	ENSG00000138029	ENST00000317799;ENST00000537713;ENST00000545822	D;D;D	0.87103	-2.21;-2.21;-2.21	5.69	5.69	0.88448	Thiolase-like, subgroup (1);Thiolase, N-terminal (1);Thiolase-like (1);	0.090399	0.85682	D	0.000000	D	0.86973	0.6062	L	0.52364	1.645	0.80722	D	1	P;B;P	0.42692	0.747;0.287;0.787	B;B;P	0.45712	0.358;0.411;0.491	D	0.87747	0.2589	10	0.56958	D	0.05	-23.2145	15.0712	0.72040	1.0:0.0:0.0:0.0	.	207;200;222	F5GZQ3;B4E2W0;P55084	.;.;ECHB_HUMAN	A	222;207;200	ENSP00000325136:T222A;ENSP00000444295:T207A;ENSP00000442665:T200A	ENSP00000325136:T222A	T	+	1	0	HADHB	26355540	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.044000	0.76578	2.291000	0.77112	0.533000	0.62120	ACC		0.537	HADHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214050.2	NM_000183		G	26502036	A	G	26502036	3	3	737	1	0	0	0	0	1	0	0	0	6946	275	10	3	694	3	HADHB	2	26502036	Missense_Mutation	SNP	A	TCGA-KN-8431-01A-11D-2310-10		26502036	216697337	6	42725											
NDUFS1	4719	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	2	207008833	207008833	+	Missense_Mutation	SNP	C	C	G	rs137994727		TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr2:207008833C>G	ENST00000233190.6	-	10	1162	c.896G>C	c.(895-897)cGt>cCt	p.R299P	NDUFS1_ENST00000455934.2_Missense_Mutation_p.R313P|NDUFS1_ENST00000457011.1_Missense_Mutation_p.R183P|NDUFS1_ENST00000432169.1_Missense_Mutation_p.R188P|NDUFS1_ENST00000423725.1_Missense_Mutation_p.R242P|NDUFS1_ENST00000440274.1_Missense_Mutation_p.R263P|NDUFS1_ENST00000449699.1_Missense_Mutation_p.R299P	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	299	4Fe-4S Mo/W bis-MGD-type. {ECO:0000255|PROSITE-ProRule:PRU01004}.				apoptotic mitochondrial changes (GO:0008637)|ATP metabolic process (GO:0046034)|cellular metabolic process (GO:0044237)|cellular respiration (GO:0045333)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747)	2 iron, 2 sulfur cluster binding (GO:0051537)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AAGTCTTTGACGTTTTAGCCC	0.368																																																0													101	98	99					2																	207008833		2203	4300	6503	SO:0001583	missense	4719				CCDS2366.1, CCDS56162.1, CCDS56163.1, CCDS56164.1, CCDS56165.1	2q33-q34	2011-07-04	2002-08-29		ENSG00000023228	ENSG00000023228	1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7707	protein-coding gene	gene with protein product	"complex I 75kDa subunit", "NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial"	157655	"NADH dehydrogenase (ubiquinone) Fe-S protein 1 (75kD) (NADH-coenzyme Q reductase)"			1935949	Standard	NM_005006		Approved	CI-75k	uc010ziq.2	P28331	OTTHUMG00000132892	ENST00000233190.6:c.896G>C	2.37:g.207008833C>G	ENSP00000233190:p.Arg299Pro		B4DIN9|B4DJA0|B4DPG1|B4DUC1|E7ENF3|Q53TR8|Q8N1C4|Q8TCC9	Missense_Mutation	SNP	ENST00000233190.6	37	CCDS2366.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.241323	0.79912	.	.	ENSG00000023228	ENST00000233190;ENST00000423725;ENST00000457011;ENST00000440274;ENST00000455934;ENST00000449699;ENST00000432169	D;D;D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54;-1.54;-1.54	5.87	4.04	0.47022	.	0.093926	0.64402	D	0.000001	D	0.90130	0.6916	M	0.89214	3.015	0.80722	D	1	P;D;D;D	0.89917	0.819;1.0;1.0;1.0	B;D;D;D	0.83275	0.19;0.996;0.996;0.993	D	0.90265	0.4303	10	0.59425	D	0.04	-23.6636	11.7113	0.51626	0.0:0.8093:0.1241:0.0665	.	188;263;313;299	B4DPG1;E7ENF3;B4DJA0;P28331	.;.;.;NDUS1_HUMAN	P	299;242;183;263;313;299;188	ENSP00000233190:R299P;ENSP00000397760:R242P;ENSP00000400976:R183P;ENSP00000409766:R263P;ENSP00000392709:R313P;ENSP00000399912:R299P;ENSP00000409689:R188P	ENSP00000233190:R299P	R	-	2	0	NDUFS1	206717078	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.744000	0.85034	0.801000	0.34066	0.591000	0.81541	CGT		0.368	NDUFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256391.4	NM_005006		G	207008833	C	G	207008833	3	3	737	1	0	0	0	0	1	0	0	0	10293	536	19	4	1327	4	NDUFS1	2	207008833	Missense_Mutation	SNP	C	TCGA-KN-8431-01A-11D-2310-10	180506797	207008833	36190540	7	42726											
GPD1L	23171	broad.mit.edu	37	3	32169635	32169643	+	In_Frame_Del	DEL	AAGATGTGG	AAGATGTGG	-			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	AAGATGTGG	AAGATGTGG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr3:32169635_32169643delAAGATGTGG	ENST00000282541.5	+	2	316_324	c.115_123delAAGATGTGG	c.(115-123)aagatgtggdel	p.KMW39del		NM_015141.3	NP_055956.1	Q8N335	GPD1L_HUMAN	glycerol-3-phosphate dehydrogenase 1-like	39					carbohydrate metabolic process (GO:0005975)|cellular lipid metabolic process (GO:0044255)|glycerol-3-phosphate catabolic process (GO:0046168)|glycerophospholipid biosynthetic process (GO:0046474)|NAD metabolic process (GO:0019674)|NADH metabolic process (GO:0006734)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein kinase C signaling (GO:0090038)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of protein localization to cell surface (GO:2000010)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate (GO:0002027)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|ventricular cardiac muscle cell action potential (GO:0086005)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycerol-3-phosphate dehydrogenase complex (GO:0009331)|plasma membrane (GO:0005886)	glycerol-3-phosphate dehydrogenase [NAD+] activity (GO:0004367)|ion channel binding (GO:0044325)|NAD binding (GO:0051287)|sodium channel regulator activity (GO:0017080)			large_intestine(4)|lung(7)|ovary(1)	12						CTCCACAGTCAAGATGTGGGTCTTTGAAG	0.354																																																0																																										SO:0001651	inframe_deletion	23171			D42047	CCDS33729.1	3p22.3	2014-09-17			ENSG00000152642	ENSG00000152642			28956	protein-coding gene	gene with protein product		611778				7788527	Standard	NM_015141		Approved	KIAA0089	uc003cew.3	Q8N335	OTTHUMG00000155846	ENST00000282541.5:c.115_123delAAGATGTGG	3.37:g.32169635_32169643delAAGATGTGG	ENSP00000282541:p.Lys39_Trp41del		A8K9U3|Q14702|Q9BRM5	In_Frame_Del	DEL	ENST00000282541.5	37	CCDS33729.1																																																																																				0.354	GPD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341975.2	NM_015141		-	32169643	AAGATGTGG	-	32169635	7	5	737	1	0	1	0	1	0	0	0	0	6607	131	5	0	121	0	GPD1L	3	32169635	In_Frame_Del	DEL	AAGATGTGG	TCGA-KN-8431-01A-11D-2310-10		32169635	165852795	8	42727	401	2									
GPD1L	23171	bcgsc.ca	37	3	32169636	32169644	+	In_Frame_Del	DEL	AAGATGTGG	AAGATGTGG	-			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	AAGATGTGG	AAGATGTGG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr3:32169636_32169644delAAGATGTGG	ENST00000282541.5	+	2	317_325	c.116_124delAAGATGTGG	c.(115-126)aaagatgtggtc>atc	p.39_42KDVV>I		NM_015141.3	NP_055956.1	Q8N335	GPD1L_HUMAN	glycerol-3-phosphate dehydrogenase 1-like	39					carbohydrate metabolic process (GO:0005975)|cellular lipid metabolic process (GO:0044255)|glycerol-3-phosphate catabolic process (GO:0046168)|glycerophospholipid biosynthetic process (GO:0046474)|NAD metabolic process (GO:0019674)|NADH metabolic process (GO:0006734)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein kinase C signaling (GO:0090038)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of protein localization to cell surface (GO:2000010)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate (GO:0002027)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|ventricular cardiac muscle cell action potential (GO:0086005)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycerol-3-phosphate dehydrogenase complex (GO:0009331)|plasma membrane (GO:0005886)	glycerol-3-phosphate dehydrogenase [NAD+] activity (GO:0004367)|ion channel binding (GO:0044325)|NAD binding (GO:0051287)|sodium channel regulator activity (GO:0017080)			large_intestine(4)|lung(7)|ovary(1)	12						TCCACAGTCAAGATGTGGGTCTTTGAAGA	0.354																																																0																																										SO:0001651	inframe_deletion	23171			D42047	CCDS33729.1	3p22.3	2014-09-17			ENSG00000152642	ENSG00000152642			28956	protein-coding gene	gene with protein product		611778				7788527	Standard	NM_015141		Approved	KIAA0089	uc003cew.3	Q8N335	OTTHUMG00000155846	ENST00000282541.5:c.116_124delAAGATGTGG	3.37:g.32169636_32169644delAAGATGTGG	ENSP00000282541:p.Lys39_Val42delinsIle		A8K9U3|Q14702|Q9BRM5	In_Frame_Del	DEL	ENST00000282541.5	37	CCDS33729.1																																																																																				0.354	GPD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341975.2	NM_015141		-	32169644	AAGATGTGG	-	32169636	7	5	737	1	0	1	0	1	0	0	0	0	6607	72	3	0	122	0	GPD1L	3	32169636	In_Frame_Del	DEL	AAGATGTGG	TCGA-KN-8431-01A-11D-2310-10	1	32169636	165852794	9	42728	401	2									
NHEDC1	150159	mdanderson.org	37	4	103826788	103826788	+	Silent	SNP	T	T	G	rs201197585		TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr4:103826788T>G	ENST00000296422.7	-	11	1356	c.1215A>C	c.(1213-1215)ctA>ctC	p.L405L	SLC9B1_ENST00000512651.2_Intron|SLC9B1_ENST00000394789.3_Silent_p.L405L	NM_139173.3	NP_631912	Q4ZJI4	SL9B1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	405					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)	p.L405L(1)									ATGCCAAACTTAGAGTGGCAA	0.318																																																1	Substitution - coding silent(1)	pancreas(1)											54	54	54					4																	103826788		2201	4295	6496	SO:0001819	synonymous_variant	150159			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.1215A>C	4.37:g.103826788T>G			A1KXV1|B9EH04|C9JBP7|Q49A30|Q8NCV2|Q8WVZ0	Silent	SNP	ENST00000296422.7	37	CCDS34041.1																																																																																				0.318	SLC9B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363841.1	NM_139173		G	103826788	T	G	103826788	2	3	737	1	0	0	0	0	0	0	0	1	10402	1741	61	5		5	NHEDC1	4	103826788	Silent	SNP	T	TCGA-KN-8431-01A-11D-2310-10		103826788	87327488	10	42729											
CCNA2	890	broad.mit.edu	37	4	122743634	122743634	+	Silent	SNP	A	A	G			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr4:122743634A>G	ENST00000274026.5	-	2	684	c.381T>C	c.(379-381)gcT>gcC	p.A127A		NM_001237.3	NP_001228	P20248	CCNA2_HUMAN	cyclin A2	127					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|organ regeneration (GO:0031100)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|response to estradiol (GO:0032355)|response to glucagon (GO:0033762)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	12						CTGAATTAAAAGCCAGGGCAT	0.413																																																0													102	100	101					4																	122743634		2203	4300	6503	SO:0001819	synonymous_variant	890				CCDS3723.1	4q27	2012-07-12			ENSG00000145386	ENSG00000145386			1578	protein-coding gene	gene with protein product		123835		CCNA, CCN1		1675006	Standard	NM_001237		Approved		uc003iec.4	P20248	OTTHUMG00000133072	ENST00000274026.5:c.381T>C	4.37:g.122743634A>G			A8K7B6|Q2M3U6|Q4W5P4|Q6LER8	Silent	SNP	ENST00000274026.5	37	CCDS3723.1																																																																																				0.413	CCNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256712.2	NM_001237		G	122743634	A	G	122743634	2	3	737	1	0	0	0	0	0	0	0	1	2912	59	3	3		3	CCNA2	4	122743634	Silent	SNP	A	TCGA-KN-8431-01A-11D-2310-10	18916846	122743634	68410642	11	42730											
NPY2R	4887	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	4	156136035	156136035	+	Missense_Mutation	SNP	T	T	A			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr4:156136035T>A	ENST00000329476.3	+	2	1433	c.944T>A	c.(943-945)aTg>aAg	p.M315K	NPY2R_ENST00000506608.1_Missense_Mutation_p.M315K	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	315					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)	ATCATCGCCATGTGCTCCACT	0.537																																																0													125	99	108					4																	156136035		2203	4300	6503	SO:0001583	missense	4887			U42766	CCDS3791.1	4q31	2012-08-08				ENSG00000185149		"GPCR / Class A : Neuropeptide receptors : Y"	7957	protein-coding gene	gene with protein product		162642				7559383	Standard	NM_000910		Approved		uc003ioq.3	P49146		ENST00000329476.3:c.944T>A	4.37:g.156136035T>A	ENSP00000332591:p.Met315Lys		Q13281|Q13457|Q4W5G7|Q6AZZ6|Q9UE67	Missense_Mutation	SNP	ENST00000329476.3	37	CCDS3791.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.026321	0.75390	.	.	ENSG00000185149	ENST00000329476;ENST00000506608	T;T	0.64803	-0.12;-0.12	5.86	5.86	0.93980	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.84320	0.5446	M	0.93197	3.39	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88428	0.3033	10	0.87932	D	0	.	15.4267	0.75059	0.0:0.0:0.0:1.0	.	315	P49146	NPY2R_HUMAN	K	315	ENSP00000332591:M315K;ENSP00000426366:M315K	ENSP00000332591:M315K	M	+	2	0	NPY2R	156355485	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	8.040000	0.89188	2.236000	0.73375	0.523000	0.50628	ATG		0.537	NPY2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365128.1	NM_000910		A	156136035	T	A	156136035	3	1	737	1	0	0	0	0	1	0	0	0	10611	1464	51	5	946	5	NPY2R	4	156136035	Missense_Mutation	SNP	T	TCGA-KN-8431-01A-11D-2310-10	33392401	156136035	35018241	12	42731											
KIF2A	3796	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	5	61653554	61653554	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr5:61653554C>T	ENST00000401507.3	+	8	1002	c.691C>T	c.(691-693)Cga>Tga	p.R231*	KIF2A_ENST00000509663.2_Intron|KIF2A_ENST00000407818.3_Nonsense_Mutation_p.R231*|KIF2A_ENST00000381103.2_Nonsense_Mutation_p.R211*|KIF2A_ENST00000506857.1_Nonsense_Mutation_p.R185*	NM_001243953.1|NM_004520.4	NP_001230882.1|NP_004511.2	O00139	KIF2A_HUMAN	kinesin heavy chain member 2A	231	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 differentiation (GO:0030154)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|nervous system development (GO:0007399)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	15		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		TGTAAGAAAACGACCACTCAA	0.254																																																0													75	79	78					5																	61653554		2201	4297	6498	SO:0001587	stop_gained	3796			BC031828	CCDS3980.2, CCDS47216.1, CCDS58949.1	5q12-q13	2008-02-05	2006-09-26	2006-09-26	ENSG00000068796	ENSG00000068796		"Kinesins"	6318	protein-coding gene	gene with protein product		602591	"kinesin heavy chain member 2"	KIF2		9177777	Standard	NM_001098511		Approved	HK2	uc003jsz.4	O00139	OTTHUMG00000097755	ENST00000401507.3:c.691C>T	5.37:g.61653554C>T	ENSP00000385622:p.Arg231*		A5YM42|A5YM54|B4DY54|D3DW97|E9PB70|Q7Z5I3|Q8N5Q7	Nonsense_Mutation	SNP	ENST00000401507.3	37	CCDS3980.2	.	.	.	.	.	.	.	.	.	.	C	38	7.152452	0.98099	.	.	ENSG00000068796	ENST00000401507;ENST00000381103;ENST00000514082;ENST00000407818;ENST00000506857	.	.	.	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.9318	0.92570	0.0:1.0:0.0:0.0	.	.	.	.	X	231;211;212;231;185	.	ENSP00000370493:R211X	R	+	1	2	KIF2A	61689311	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.421000	0.59848	2.459000	0.83118	0.585000	0.79938	CGA		0.254	KIF2A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317989.1	NM_004520		T	61653554	C	T	61653554	4	4	737	1	0	0	0	0	0	1	0	0	8299	528	19	1	721	1	KIF2A	5	61653554	Nonsense_Mutation	SNP	C	TCGA-KN-8431-01A-11D-2310-10		61653554	119261706	13	42732											
MEF2C	4208	hgsc.bcm.edu	37	5	88025096	88025096	+	Silent	SNP	A	A	G			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr5:88025096A>G	ENST00000437473.2	-	9	1320	c.903T>C	c.(901-903)ccT>ccC	p.P301P	MEF2C_ENST00000340208.5_Silent_p.P311P|MEF2C_ENST00000514028.1_Silent_p.P301P|MEF2C_ENST00000424173.2_Silent_p.P291P|MEF2C_ENST00000508569.1_Silent_p.P293P|MEF2C_ENST00000506554.1_Silent_p.P301P|MEF2C_ENST00000503554.1_5'Flank|MEF2C_ENST00000510942.1_Silent_p.P293P|MEF2C_ENST00000514015.1_Silent_p.P301P|MEF2C_ENST00000504921.2_Silent_p.P301P|MEF2C_ENST00000539796.1_Silent_p.P245P	NM_001193350.1|NM_002397.4	NP_001180279.1|NP_002388.2	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	301					apoptotic process (GO:0006915)|B cell homeostasis (GO:0001782)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac ventricle formation (GO:0003211)|cartilage morphogenesis (GO:0060536)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to fluid shear stress (GO:0071498)|cellular response to glucose stimulus (GO:0071333)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to trichostatin A (GO:0035984)|chondrocyte differentiation (GO:0002062)|dentate gyrus development (GO:0021542)|embryonic viscerocranium morphogenesis (GO:0048703)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|germinal center formation (GO:0002467)|glomerulus morphogenesis (GO:0072102)|heart development (GO:0007507)|heart looping (GO:0001947)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|MAPK cascade (GO:0000165)|melanocyte differentiation (GO:0030318)|monocyte differentiation (GO:0030224)|muscle cell differentiation (GO:0042692)|muscle cell fate determination (GO:0007521)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myotube differentiation (GO:0014902)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nephron tubule epithelial cell differentiation (GO:0072160)|nervous system development (GO:0007399)|neural crest cell differentiation (GO:0014033)|neuron development (GO:0048666)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|platelet formation (GO:0030220)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|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)|primary heart field specification (GO:0003138)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of dendritic spine development (GO:0060998)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of germinal center formation (GO:0002634)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron apoptotic process (GO:0043523)|regulation of neurotransmitter secretion (GO:0046928)|regulation of sarcomere organization (GO:0060297)|regulation of synapse assembly (GO:0051963)|regulation of synaptic activity (GO:0060025)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|renal tubule morphogenesis (GO:0061333)|response to ischemia (GO:0002931)|response to virus (GO:0009615)|response to vitamin E (GO:0033197)|secondary heart field specification (GO:0003139)|sinoatrial valve morphogenesis (GO:0003185)|skeletal muscle tissue development (GO:0007519)|smooth muscle cell differentiation (GO:0051145)|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)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|sarcomere (GO:0030017)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|protein heterodimerization activity (GO:0046982)|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 transcription factor activity (GO:0000983)|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)|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)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		CTGGTAAAGTAGGAGTTGCTA	0.398										HNSCC(66;0.2)																																						0													74	82	80					5																	88025096		1860	4108	5968	SO:0001819	synonymous_variant	4208			AL833268	CCDS47244.1, CCDS47245.1, CCDS54877.1, CCDS54878.1	5q14.3	2013-07-03	2007-04-24		ENSG00000081189	ENSG00000081189		"Myocyte enhancer factors"	6996	protein-coding gene	gene with protein product		600662				8455629	Standard	NM_002397		Approved		uc003kjl.3	Q06413	OTTHUMG00000162634	ENST00000437473.2:c.903T>C	5.37:g.88025096A>G			C9JMZ0|D7F7N5|F8W7V7	Silent	SNP	ENST00000437473.2	37	CCDS47245.1																																																																																				0.398	MEF2C-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369817.1	NM_002397		G	88025096	A	G	88025096	2	3	737	1	0	0	0	0	0	0	0	1	9459	407	15	3		3	MEF2C	5	88025096	Silent	SNP	A	TCGA-KN-8431-01A-11D-2310-10	26371542	88025096	92890164	14	42733											
DMXL1	1657	broad.mit.edu	37	5	118525451	118525451	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr5:118525451C>T	ENST00000311085.8	+	29	7264	c.7184C>T	c.(7183-7185)cCg>cTg	p.P2395L	DMXL1_ENST00000539542.1_Missense_Mutation_p.P2395L	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2395										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)		CGTTTTAGGCCGTCAAAAATG	0.403																																																0													103	104	104					5																	118525451		2202	4300	6502	SO:0001583	missense	1657			AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"WD repeat domain containing"	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.7184C>T	5.37:g.118525451C>T	ENSP00000309690:p.Pro2395Leu			Missense_Mutation	SNP	ENST00000311085.8	37	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	C	12.20	1.866827	0.32977	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.08634	3.07;3.07	5.95	5.95	0.96441	.	0.611989	0.18961	N	0.126395	T	0.06781	0.0173	N	0.22421	0.69	0.38100	D	0.937229	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.40346	-0.9568	10	0.18710	T	0.47	-1.0995	13.5655	0.61815	0.0:0.9292:0.0:0.0708	.	2395;2395	F5H269;Q9Y485	.;DMXL1_HUMAN	L	2395	ENSP00000309690:P2395L;ENSP00000439479:P2395L	ENSP00000309690:P2395L	P	+	2	0	DMXL1	118553350	1.000000	0.71417	0.995000	0.50966	0.581000	0.36288	2.212000	0.42835	2.821000	0.97095	0.650000	0.86243	CCG		0.403	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		T	118525451	C	T	118525451	3	4	737	1	0	0	0	0	1	0	0	0	4596	652	23	1	7298	1	DMXL1	5	118525451	Missense_Mutation	SNP	C	TCGA-KN-8431-01A-11D-2310-10	30500355	118525451	62389809	15	42734											
GCNT2	2651	ucsc.edu	37	6	10626704	10626704	+	Missense_Mutation	SNP	T	T	G	rs200336999		TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr6:10626704T>G	ENST00000379597.3	+	3	1629	c.1073T>G	c.(1072-1074)gTt>gGt	p.V358G	GCNT2_ENST00000397423.2_3'UTR|GCNT2_ENST00000316170.3_Missense_Mutation_p.V356G|GCNT2_ENST00000495262.1_Missense_Mutation_p.V358G|GCNT2_ENST00000265012.4_Missense_Mutation_p.V358G|GCNT2_ENST00000410107.1_Missense_Mutation_p.V72G			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	358					maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		AAGTGGCTGGTTAATTCACCA	0.423																																																0													110	109	109					6																	10626704		2203	4300	6503	SO:0001583	missense	2651			L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"Blood group antigens", "Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	4204	protein-coding gene	gene with protein product	"Ii blood group", "unassigned linkage group 3"	600429	"glucosaminyl (N-acetyl) transferase 5", "glucosaminyl (N-acetyl) transferase 2, I-branching enzyme", "glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)", "cataract, congenital"	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.1073T>G	6.37:g.10626704T>G	ENSP00000368917:p.Val358Gly			Missense_Mutation	SNP	ENST00000379597.3	37	CCDS34338.1	.	.	.	.	.	.	.	.	.	.	T	14.84	2.655719	0.47467	.	.	ENSG00000111846	ENST00000410107;ENST00000495262;ENST00000379597;ENST00000316170;ENST00000265012	T;T;T;T;T	0.47869	0.83;2.85;2.85;2.85;2.86	5.6	1.6	0.23607	.	1.025490	0.07750	N	0.948455	T	0.24967	0.0606	L	0.39898	1.24	0.09310	N	1	B;B;B;B	0.31705	0.336;0.154;0.336;0.076	B;B;B;B	0.39027	0.197;0.079;0.288;0.18	T	0.45687	-0.9244	10	0.72032	D	0.01	-30.6503	7.7404	0.28837	0.241:0.0:0.1261:0.6329	.	358;72;358;356	Q8N0V5;B7ZBL3;Q8NFS9;Q06430	GNT2A_HUMAN;.;GNT2C_HUMAN;GNT2B_HUMAN	G	72;358;358;356;358	ENSP00000386321:V72G;ENSP00000419411:V358G;ENSP00000368917:V358G;ENSP00000314844:V356G;ENSP00000265012:V358G	ENSP00000265012:V358G	V	+	2	0	GCNT2	10734690	0.181000	0.23161	0.048000	0.18961	0.987000	0.75469	1.266000	0.33039	0.374000	0.24650	0.528000	0.53228	GTT		0.423	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	NM_145649		G	10626704	T	G	10626704	3	3	737	1	0	0	0	0	1	0	0	0	6303	1725	60	5	2935	5	GCNT2	6	10626704	Missense_Mutation	SNP	T	TCGA-KN-8431-01A-11D-2310-10		10626704	160488363	16	42735											
HLA-A	3105	bcgsc.ca	37	6	29911261	29911261	+	Missense_Mutation	SNP	C	C	G			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr6:29911261C>G	ENST00000396634.1	+	5	901	c.560C>G	c.(559-561)aCg>aGg	p.T187R	HLA-A_ENST00000376802.2_Missense_Mutation_p.T187R|HLA-A_ENST00000376806.5_Missense_Mutation_p.T187R|HLA-A_ENST00000376809.5_Missense_Mutation_p.T187R			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	187	Alpha-2.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CTGGATGGCACGTGCGTGGAG	0.667									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			g|||	1039	0.207468	0.0809	0.1037	5008	,	,		12986	0.3185		0.2018	False		,,,				2504	0.3436															0													45	35	39					6																	29911261		1508	2702	4210	SO:0001583	missense	3105	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.560C>G	6.37:g.29911261C>G	ENSP00000379873:p.Thr187Arg		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	CCDS34373.1	360	0.16483516483516483	26	0.052845528455284556	33	0.09116022099447514	149	0.26048951048951047	152	0.20052770448548812	.	0.003	-2.554518	0.00138	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000376802	T;T;T;T	0.00768	5.72;5.72;5.72;5.72	3.78	-7.56	0.01322	MHC class I, alpha chain, alpha1/alpha2 (6);MHC classes I/II-like antigen recognition protein (3);MHC class I-like antigen recognition (3);	80.137900	0.00166	N	0.000017	T	0.00109	0.0003	L	0.33668	1.02	0.80722	P	0.0	B;B;B;B;B;B	0.16396	0.017;0.003;0.003;0.001;0.003;0.003	B;B;B;B;B;B	0.22386	0.017;0.039;0.02;0.009;0.02;0.02	T	0.50980	-0.8763	9	0.05620	T	0.96	.	2.6157	0.04902	0.4361:0.0993:0.2856:0.1791	rs3129017;rs9260159;rs41555617	66;187;187;187;187;187	B4DVB9;Q5SRN7;P16188;Q5SRN5;P30455;P04439	.;.;1A30_HUMAN;.;1A36_HUMAN;1A03_HUMAN	R	187	ENSP00000379873:T187R;ENSP00000366002:T187R;ENSP00000366005:T187R;ENSP00000365998:T187R	ENSP00000365998:T187R	T	+	2	0	HLA-A	30019240	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-13.082000	0.00001	-8.487000	0.00000	-3.856000	0.00018	ACG		0.667	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		G	29911261	C	G	29911261	3	3	737	1	0	0	0	0	1	0	0	0	7197	536	19	4	570	4	HLA-A	6	29911261	Missense_Mutation	SNP	C	TCGA-KN-8431-01A-11D-2310-10	19284557	29911261	141203806	17	42736											
KCNK5	8645	hgsc.bcm.edu	37	6	39159435	39159435	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr6:39159435C>T	ENST00000359534.3	-	5	1069	c.731G>A	c.(730-732)tGg>tAg	p.W244*		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	244					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						GCTCACCTTCCAGTTGACAAA	0.587																																																0													83	92	89					6																	39159435		2203	4300	6503	SO:0001587	stop_gained	8645			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.731G>A	6.37:g.39159435C>T	ENSP00000352527:p.Trp244*		B2RAQ6|B5TJL2|Q5VV76	Nonsense_Mutation	SNP	ENST00000359534.3	37	CCDS4841.1	.	.	.	.	.	.	.	.	.	.	C	39	7.558550	0.98358	.	.	ENSG00000164626	ENST00000359534	.	.	.	5.27	5.27	0.74061	.	0.691332	0.14594	N	0.310056	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.2502	0.93921	0.0:1.0:0.0:0.0	.	.	.	.	X	244	.	ENSP00000352527:W244X	W	-	2	0	KCNK5	39267413	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.880000	0.69698	2.619000	0.88677	0.561000	0.74099	TGG		0.587	KCNK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040449.1	NM_003740		T	39159435	C	T	39159435	4	4	737	1	0	0	0	0	0	1	0	0	8071	595	21	2	772	2	KCNK5	6	39159435	Nonsense_Mutation	SNP	C	TCGA-KN-8431-01A-11D-2310-10	9248174	39159435	131955632	18	42737											
TREML2	79865	mdanderson.org	37	6	41166022	41166022	+	Silent	SNP	A	A	G	rs386700523|rs139267947		TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr6:41166022A>G	ENST00000483722.1	-	2	386	c.201T>C	c.(199-201)ttT>ttC	p.F67F		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	67	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)					AGACTCGGGCAAAGCCAGGCT	0.572																																																0													135	134	134					6																	41166022		2203	4300	6503	SO:0001819	synonymous_variant	79865			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.201T>C	6.37:g.41166022A>G			Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	Silent	SNP	ENST00000483722.1	37	CCDS4853.2																																																																																				0.572	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043756.3	NM_024807		G	41166022	A	G	41166022	2	3	737	1	0	0	0	0	0	0	0	1	16478	127	5	3		3	TREML2	6	41166022	Silent	SNP	A	TCGA-KN-8431-01A-11D-2310-10	2006587	41166022	129949045	19	42738	402	2									
TREML2	79865	mdanderson.org	37	6	41166025	41166025	+	Silent	SNP	G	G	A	rs113267424	byFrequency	TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr6:41166025G>A	ENST00000483722.1	-	2	383	c.198C>T	c.(196-198)ggC>ggT	p.G66G		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	66	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)					CTCGGGCAAAGCCAGGCTCAC	0.567																																																0													139	139	139					6																	41166025		2203	4300	6503	SO:0001819	synonymous_variant	79865			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.198C>T	6.37:g.41166025G>A			Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	Silent	SNP	ENST00000483722.1	37	CCDS4853.2																																																																																				0.567	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043756.3	NM_024807		A	41166025	G	A	41166025	2	1	737	1	0	0	0	0	0	0	0	1	16478	958	34	2		2	TREML2	6	41166025	Silent	SNP	G	TCGA-KN-8431-01A-11D-2310-10	3	41166025	129949042	20	42739	402	2									
DST	667	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	6	56480802	56480802	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr6:56480802C>T	ENST00000370765.6	-	24	7570	c.7463G>A	c.(7462-7464)gGc>gAc	p.G2488D	DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370754.5_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1784					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)			ATCAATTATGCCCCCTGTACT	0.517																																																0													71	77	75					6																	56480802		2203	4300	6503	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.7463G>A	6.37:g.56480802C>T	ENSP00000359801:p.Gly2488Asp		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	CCDS4959.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.322255	0.81580	.	.	ENSG00000151914	ENST00000370765	D	0.86030	-2.06	5.94	5.94	0.96194	.	.	.	.	.	D	0.92341	0.7570	.	.	.	0.35699	D	0.815492	D	0.89917	1.0	D	0.97110	1.0	D	0.91303	0.5068	7	0.52906	T	0.07	.	20.3593	0.98849	0.0:1.0:0.0:0.0	.	2488	Q03001-3	.	D	2488	ENSP00000359801:G2488D	ENSP00000359801:G2488D	G	-	2	0	DST	56588761	1.000000	0.71417	0.990000	0.47175	0.960000	0.62799	7.818000	0.86416	2.822000	0.97130	0.557000	0.71058	GGC		0.517	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2	NM_001723		T	56480802	C	T	56480802	3	4	737	1	0	0	0	0	1	0	0	0	4785	739	26	2	12936	2	DST	6	56480802	Missense_Mutation	SNP	C	TCGA-KN-8431-01A-11D-2310-10	15314777	56480802	114634265	21	42740											
RINT1	60561	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	7	105182935	105182935	+	Silent	SNP	T	T	C			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr7:105182935T>C	ENST00000257700.2	+	4	585	c.354T>C	c.(352-354)aaT>aaC	p.N118N	RINT1_ENST00000477285.1_3'UTR	NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	118					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						AATTTCTTAATCAGTTTCTGG	0.378																																																0													96	98	97					7																	105182935		2203	4300	6503	SO:0001819	synonymous_variant	60561			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.354T>C	7.37:g.105182935T>C			Q75MG9|Q75MH0|Q96IW8|Q9H229|Q9HAD9	Silent	SNP	ENST00000257700.2	37	CCDS34726.1																																																																																				0.378	RINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348686.1	NM_021930		C	105182935	T	C	105182935	2	2	737	1	0	0	0	0	0	0	0	1	13382	1432	50	3		3	RINT1	7	105182935	Silent	SNP	T	TCGA-KN-8431-01A-11D-2310-10		105182935	53955728	22	42741											
CTAGE6P	340307	broad.mit.edu	37	7	143453697	143453697	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr7:143453697A>G	ENST00000470691.2	-	1	1092	c.1055T>C	c.(1054-1056)cTt>cCt	p.L352P	RNU6-267P_ENST00000516714.1_RNA	NM_178561.4	NP_848656.2	Q86UF2	CTGE6_HUMAN	CTAGE family, member 6	352						integral component of membrane (GO:0016021)						Melanoma(164;0.0903)					ATGCTCTGTAAGCTCTTCCTT	0.303																																																0													16	13	14					7																	143453697		1804	4014	5818	SO:0001583	missense	340307			BC043153	CCDS64790.1	7q35	2013-05-22	2013-02-25	2013-02-25	ENSG00000271321	ENSG00000271321			28644	protein-coding gene	gene with protein product			"CTAGE family, member 6, pseudogene"	CTAGE6P		12477932	Standard	NM_178561		Approved	MGC41943	uc003wdk.4	Q86UF2	OTTHUMG00000157770	ENST00000470691.2:c.1055T>C	7.37:g.143453697A>G	ENSP00000474388:p.Leu352Pro		A4FU29|Q3ZCM5	Missense_Mutation	SNP	ENST00000470691.2	37																																																																																					0.303	CTAGE6-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349580.2	NM_178561		G	143453697	A	G	143453697	3	3	737	1	0	0	0	0	1	0	0	0	3997	72	3	3	1282	3	CTAGE6P	7	143453697	Missense_Mutation	SNP	A	TCGA-KN-8431-01A-11D-2310-10	38270762	143453697	15684966	23	42742											
SMARCA2	6595	broad.mit.edu	37	9	2039815	2039815	+	Silent	SNP	G	G	A	rs574062756	byFrequency	TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr9:2039815G>A	ENST00000382203.1	+	4	914	c.705G>A	c.(703-705)caG>caA	p.Q235Q	SMARCA2_ENST00000382194.1_Silent_p.Q235Q|SMARCA2_ENST00000357248.2_Silent_p.Q235Q|SMARCA2_ENST00000491574.1_3'UTR|RP11-264I13.2_ENST00000426860.1_RNA|SMARCA2_ENST00000349721.2_Silent_p.Q235Q			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	235	Poly-Gln.				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)		agcagcagcagcaacagcagc	0.587													G|||	41	0.0081869	0.0151	0.0029	5008	,	,		10366	0.0089		0.0	False		,,,				2504	0.0102															0													10	13	12					9																	2039815		2161	4205	6366	SO:0001819	synonymous_variant	6595			D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.705G>A	9.37:g.2039815G>A			B1ALG3|B1ALG4|D3DRH4|D3DRH5	Silent	SNP	ENST00000382203.1	37	CCDS34977.1																																																																																				0.587	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		A	2039815	G	A	2039815	2	1	737	1	0	0	0	0	0	0	0	1	14775	962	34	2		2	SMARCA2	9	2039815	Silent	SNP	G	TCGA-KN-8431-01A-11D-2310-10		2039815	139173616	24	42743											
C8G	733	broad.mit.edu	37	9	139839860	139839860	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr9:139839860G>T	ENST00000224181.3	+	1	148	c.88G>T	c.(88-90)Gca>Tca	p.A30S	FBXW5_ENST00000483559.1_5'Flank|FBXW5_ENST00000325285.3_5'Flank	NM_000606.2	NP_000597.2	P07360	CO8G_HUMAN	complement component 8, gamma polypeptide	30					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)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	retinol binding (GO:0019841)			NS(1)|prostate(1)|skin(1)	3	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.88e-06)|Epithelial(140;0.000107)		ACGCCGGCCCGCATCCCCCAT	0.647											OREG0019623	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													18	19	18					9																	139839860		2195	4295	6490	SO:0001583	missense	733			X06465	CCDS7017.1	9q	2011-11-15			ENSG00000176919	ENSG00000176919		"Complement system", "Lipocalins"	1354	protein-coding gene	gene with protein product		120930					Standard	NM_000606		Approved		uc004cka.2	P07360	OTTHUMG00000020955	ENST00000224181.3:c.88G>T	9.37:g.139839860G>T	ENSP00000224181:p.Ala30Ser	1651	Q14CT8|Q14CU0|Q5SQ07	Missense_Mutation	SNP	ENST00000224181.3	37	CCDS7017.1	.	.	.	.	.	.	.	.	.	.	g	9.776	1.174015	0.21704	.	.	ENSG00000176919	ENST00000371634;ENST00000224181	T;T	0.23950	1.88;2.67	5.06	-5.45	0.02616	Calycin-like (1);Calycin (1);	1.279830	0.05352	N	0.532000	T	0.18551	0.0445	L	0.36672	1.1	0.09310	N	1	B	0.26258	0.145	B	0.20577	0.03	T	0.31916	-0.9926	10	0.46703	T	0.11	-4.3064	9.5945	0.39565	0.4247:0.199:0.3763:0.0	.	30	P07360	CO8G_HUMAN	S	30	ENSP00000360697:A30S;ENSP00000224181:A30S	ENSP00000224181:A30S	A	+	1	0	C8G	138959681	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.305000	0.02738	-1.057000	0.03201	-0.328000	0.08392	GCA		0.647	C8G-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055178.1			T	139839860	G	T	139839860	3	4	737	1	0	0	0	0	1	0	0	0	2420	1087	38	4	90	4	C8G	9	139839860	Missense_Mutation	SNP	G	TCGA-KN-8431-01A-11D-2310-10	137800045	139839860	1373571	25	42744											
FBXO18	84893	bcgsc.ca	37	10	5960320	5960320	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr10:5960320T>C	ENST00000362091.4	+	13	2094	c.1979T>C	c.(1978-1980)gTt>gCt	p.V660A	FBXO18_ENST00000397269.3_Missense_Mutation_p.V147A|FBXO18_ENST00000379999.5_Missense_Mutation_p.V711A	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	660					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						ATGAACATAGTTCTGTCTCAG	0.512																																																0													151	156	154					10																	5960320		2203	4300	6503	SO:0001583	missense	84893			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.1979T>C	10.37:g.5960320T>C	ENSP00000355415:p.Val660Ala		Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Missense_Mutation	SNP	ENST00000362091.4	37	CCDS7072.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.656864	0.88154	.	.	ENSG00000134452	ENST00000397269;ENST00000362091;ENST00000379999	D;D;D	0.82433	-1.61;-1.61;-1.61	6.0	6.0	0.97389	.	0.264586	0.38548	N	0.001659	D	0.84156	0.5410	L	0.39898	1.24	0.50313	D	0.999867	D;P;P	0.53745	0.962;0.918;0.931	P;P;P	0.52454	0.466;0.525;0.699	D	0.85834	0.1393	10	0.72032	D	0.01	-23.0821	16.2107	0.82151	0.0:0.0:0.0:1.0	.	711;660;586	Q8NFZ0-2;Q8NFZ0;Q2TAK1	.;FBX18_HUMAN;.	A	147;660;711	ENSP00000380439:V147A;ENSP00000355415:V660A;ENSP00000369335:V711A	ENSP00000355415:V660A	V	+	2	0	FBXO18	6000326	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.192000	0.77771	2.299000	0.77371	0.529000	0.55759	GTT		0.512	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	NM_032807		C	5960320	T	C	5960320	3	2	737	1	0	0	0	0	1	0	0	0	5733	1725	60	3	2191	3	FBXO18	10	5960320	Missense_Mutation	SNP	T	TCGA-KN-8431-01A-11D-2310-10		5960320	129574427	26	42745											
IDE	3416	ucsc.edu	37	10	94291641	94291641	+	Silent	SNP	A	A	G			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr10:94291641A>G	ENST00000265986.6	-	4	581	c.525T>C	c.(523-525)gaT>gaC	p.D175D		NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	175					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)"	TGCAACTTTCATCGAACAAGG	0.363																																																0													73	68	70					10																	94291641		2203	4300	6503	SO:0001819	synonymous_variant	3416			M21188	CCDS7421.1, CCDS53554.1	10q23-q25	2007-03-27			ENSG00000119912	ENSG00000119912			5381	protein-coding gene	gene with protein product	"insulysin"	146680				2293021	Standard	NM_004969		Approved		uc001kia.3	P14735	OTTHUMG00000018759	ENST00000265986.6:c.525T>C	10.37:g.94291641A>G			B2R721|B7ZAU2|D3DR35|Q5T5N2	Silent	SNP	ENST00000265986.6	37	CCDS7421.1																																																																																				0.363	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049393.1	NM_004969		G	94291641	A	G	94291641	2	3	737	1	0	0	0	0	0	0	0	1	7495	214	8	3		3	IDE	10	94291641	Silent	SNP	A	TCGA-KN-8431-01A-11D-2310-10	88331321	94291641	41243106	27	42746											
MUC6	4588	mdanderson.org	37	11	1017654	1017654	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr11:1017654G>A	ENST00000421673.2	-	31	5197	c.5147C>T	c.(5146-5148)cCc>cTc	p.P1716L		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1716	Approximate repeats.|Thr-rich.				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)		GGTGGGGTTGGGGGTGATGTT	0.517																																																0													586	579	581					11																	1017654		2195	4281	6476	SO:0001583	missense	4588			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.5147C>T	11.37:g.1017654G>A	ENSP00000406861:p.Pro1716Leu		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	7.873	0.728666	0.15507	.	.	ENSG00000184956	ENST00000421673	T	0.22539	1.95	1.58	0.52	0.17040	.	.	.	.	.	T	0.16854	0.0405	L	0.58101	1.795	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.30357	-0.9981	9	0.33940	T	0.23	.	2.2855	0.04125	0.2093:0.0:0.4243:0.3664	.	1716	Q6W4X9	MUC6_HUMAN	L	1716	ENSP00000406861:P1716L	ENSP00000406861:P1716L	P	-	2	0	MUC6	1007654	0.000000	0.05858	0.003000	0.11579	0.046000	0.14306	0.316000	0.19469	0.185000	0.20105	0.271000	0.19318	CCC		0.517	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		A	1017654	G	A	1017654	3	1	737	1	0	0	0	0	1	0	0	0	9982	1232	43	2	2184	2	MUC6	11	1017654	Missense_Mutation	SNP	G	TCGA-KN-8431-01A-11D-2310-10		1017654	133988862	28	42747			1	99		2	2	16	G		2.858787e-05
MUC6	4588	mdanderson.org	37	11	1017669	1017669	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr11:1017669G>A	ENST00000421673.2	-	31	5182	c.5132C>T	c.(5131-5133)aCc>aTc	p.T1711I		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1711	Approximate repeats.|Thr-rich.				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)		GATGTTGGTGGTAGAAGTTGA	0.532																																																0													642	631	635					11																	1017669		2196	4287	6483	SO:0001583	missense	4588			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.5132C>T	11.37:g.1017669G>A	ENSP00000406861:p.Thr1711Ile		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	7.740	0.700992	0.15172	.	.	ENSG00000184956	ENST00000421673	T	0.18810	2.19	1.44	0.44	0.16572	.	.	.	.	.	T	0.09686	0.0238	N	0.22421	0.69	0.09310	N	1	P	0.50819	0.939	B	0.33454	0.164	T	0.23013	-1.0200	9	0.38643	T	0.18	.	6.7634	0.23552	0.0:0.0:0.7213:0.2787	.	1711	Q6W4X9	MUC6_HUMAN	I	1711	ENSP00000406861:T1711I	ENSP00000406861:T1711I	T	-	2	0	MUC6	1007669	0.000000	0.05858	0.003000	0.11579	0.070000	0.16714	-0.005000	0.12855	0.159000	0.19401	0.281000	0.19383	ACC		0.532	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		A	1017669	G	A	1017669	3	1	737	1	0	0	0	0	1	0	0	0	9982	1261	44	2	2199	2	MUC6	11	1017669	Missense_Mutation	SNP	G	TCGA-KN-8431-01A-11D-2310-10	15	1017669	133988847	29	42748			1	99		2	2	16	G		2.858787e-05
OR5M9	390162	broad.mit.edu	37	11	56230641	56230641	+	Missense_Mutation	SNP	C	C	A			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr11:56230641C>A	ENST00000279791.1	-	1	236	c.237G>T	c.(235-237)atG>atT	p.M79I		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	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)|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)					AGTTTTCCAGCATTTTGGGGG	0.453																																																0													87	89	89					11																	56230641		2201	4296	6497	SO:0001583	missense	390162			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.237G>T	11.37:g.56230641C>A	ENSP00000279791:p.Met79Ile		Q6IEW5|Q96RB9	Missense_Mutation	SNP	ENST00000279791.1	37	CCDS31531.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.423338	0.43020	.	.	ENSG00000150269	ENST00000279791	T	0.05513	3.43	4.85	4.85	0.62838	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000034	T	0.10380	0.0254	L	0.58510	1.815	0.31057	N	0.714523	P	0.35226	0.491	B	0.35971	0.215	T	0.01935	-1.1244	10	0.87932	D	0	-37.1441	15.8179	0.78618	0.0:1.0:0.0:0.0	.	79	Q8NGP3	OR5M9_HUMAN	I	79	ENSP00000279791:M79I	ENSP00000279791:M79I	M	-	3	0	OR5M9	55987217	0.000000	0.05858	1.000000	0.80357	0.763000	0.43281	0.307000	0.19296	2.394000	0.81467	0.549000	0.68633	ATG		0.453	OR5M9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391638.1	NM_001004743		A	56230641	C	A	56230641	3	1	737	1	0	0	0	0	1	0	0	0	11179	710	25	4	697	4	OR5M9	11	56230641	Missense_Mutation	SNP	C	TCGA-KN-8431-01A-11D-2310-10	55212972	56230641	78775875	30	42749											
NUMA1	10068	broad.mit.edu	37	11	71715034	71715034	+	IGR	SNP	T	T	G			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr11:71715034T>G	ENST00000393703.4	+	0	1788				NUMA1_ENST00000351960.6_Missense_Mutation_p.N943H|NUMA1_ENST00000358965.6_Missense_Mutation_p.N2065H|NUMA1_ENST00000393695.3_Missense_Mutation_p.N2079H	NM_001039660.1	NP_001034749.1	O95998	I18BP_HUMAN	interleukin 18 binding protein						cellular response to hydrogen peroxide (GO:0070301)|cellular response to tumor necrosis factor (GO:0071356)|extracellular negative regulation of signal transduction (GO:1900116)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	interleukin-18 binding (GO:0042007)|receptor antagonist activity (GO:0048019)			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						CTGCGAGTGTTGGGGGAAGCC	0.642																																																0													68	79	75					11																	71715034		2200	4293	6493	SO:0001628	intergenic_variant	4926			AF110798	CCDS8206.2, CCDS44666.1	11q13	2013-01-11			ENSG00000137496	ENSG00000137496		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5987	protein-coding gene	gene with protein product	"MC51L-53L-54L homolog gene product"	604113				10023777	Standard	NM_001145055		Approved	IL18BPa	uc001orf.1	O95998	OTTHUMG00000133713		11.37:g.71715034T>G			B3KUZ0|B7WPK4|O95993|O96027|Q9NZA9|Q9UBR7	Missense_Mutation	SNP	ENST00000393703.4	37	CCDS8206.2	.	.	.	.	.	.	.	.	.	.	T	15.27	2.785011	0.49997	.	.	ENSG00000137497	ENST00000351960;ENST00000358965;ENST00000393695;ENST00000359652;ENST00000536544	T;T;T	0.18338	2.22;2.7;2.7	4.94	3.79	0.43588	.	0.757314	0.12099	N	0.499697	T	0.20659	0.0497	N	0.14661	0.345	0.30119	N	0.80582	P;P;P;D	0.64830	0.547;0.514;0.547;0.994	B;B;B;P	0.62560	0.346;0.351;0.346;0.904	T	0.05273	-1.0895	10	0.54805	T	0.06	.	8.8246	0.35047	0.0:0.0:0.3009:0.6991	.	2085;2065;2079;943	Q4LE64;Q14980-2;Q14980;Q9BTE9	.;.;NUMA1_HUMAN;.	H	943;2065;2079;1628;1052	ENSP00000260051:N943H;ENSP00000351851:N2065H;ENSP00000377298:N2079H	ENSP00000260051:N943H	N	-	1	0	NUMA1	71392682	0.004000	0.15560	0.959000	0.39883	0.398000	0.30690	1.487000	0.35540	2.081000	0.62600	0.533000	0.62120	AAC		0.642	IL18BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000258012.2	NM_173042		G	71715034	T	G	71715034	1	3	737	0	1	0	0	0	0	0	0	0	10752	1812	63	5		5	NUMA1	11	71715034	IGR	SNP	T	TCGA-KN-8431-01A-11D-2310-10	15484393	71715034	63291482	31	42750											
MED17	9440	mdanderson.org	37	11	93517886	93517886	+	Missense_Mutation	SNP	G	G	C	rs2848477	byFrequency	TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr11:93517886G>C	ENST00000251871.3	+	1	494	c.207G>C	c.(205-207)gaG>gaC	p.E69D	MED17_ENST00000530819.1_Missense_Mutation_p.E69D	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	69			E -> D (in dbSNP:rs2848477). {ECO:0000269|PubMed:10198638, ECO:0000269|PubMed:10235266, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:18691976, ECO:0000269|PubMed:19369195}.		androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ACGCGCAGGAGTGGCCGGGCG	0.726											OREG0021291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	2833	0.565695	0.2821	0.7464	5008	,	,		13355	0.7411		0.6382	False		,,,				2504	0.5654															0								C	ASP/GLU	1525,2613		338,849,882	8	7	7		207	1.7	1	11	dbSNP_100	7	5300,2958		1815,1670,644	no	missense	MED17	NM_004268.4	45	2153,2519,1526	CC,CG,GG		35.8198,36.8536,44.9419	benign	69/652	93517886	6825,5571	2069	4129	6198	SO:0001583	missense	9440			AF104254	CCDS8295.1	11q21	2007-07-30	2007-07-30	2007-07-30	ENSG00000042429	ENSG00000042429			2375	protein-coding gene	gene with protein product		603810	"cofactor required for Sp1 transcriptional activation, subunit 6 (77kD)", "cofactor required for Sp1 transcriptional activation, subunit 6, 77kDa"	CRSP6		9989412, 10198638	Standard	NM_004268		Approved	CRSP77, TRAP80, DRIP80	uc001pem.4	Q9NVC6	OTTHUMG00000167497	ENST00000251871.3:c.207G>C	11.37:g.93517886G>C	ENSP00000251871:p.Glu69Asp	1298	B3KN07|Q9HA81|Q9UNP7|Q9Y2W0|Q9Y660	Missense_Mutation	SNP	ENST00000251871.3	37	CCDS8295.1	1311	0.6002747252747253	130	0.26422764227642276	259	0.7154696132596685	427	0.7465034965034965	495	0.6530343007915568	C	3.538	-0.094237	0.07053	0.368536	0.641802	ENSG00000042429	ENST00000251871;ENST00000530819;ENST00000427225;ENST00000533359	T;T;T	0.55588	0.51;0.51;0.51	5.76	1.67	0.24075	.	0.143160	0.64402	N	0.000006	T	0.00012	0.0000	L	0.50333	1.59	0.51482	P	7.199999999996098E-5	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.41251	-0.9519	9	0.12103	T	0.63	-17.8592	6.367	0.21461	0.0:0.5236:0.2246:0.2518	rs2848477;rs17845635;rs17858567	69;69	Q9NVC6;Q9NVC6-2	MED17_HUMAN;.	D	69;69;39;69	ENSP00000251871:E69D;ENSP00000434459:E69D;ENSP00000431524:E69D	ENSP00000251871:E69D	E	+	3	2	MED17	93157534	0.996000	0.38824	1.000000	0.80357	0.330000	0.28571	0.190000	0.17057	0.391000	0.25143	-0.216000	0.12614	GAG		0.726	MED17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394800.2	NM_004268		C	93517886	G	C	93517886	3	2	737	1	0	0	0	0	1	0	0	0	9437	1020	36	4	209	4	MED17	11	93517886	Missense_Mutation	SNP	G	TCGA-KN-8431-01A-11D-2310-10	21802852	93517886	41488630	32	42751											
CNTN5	53942	mdanderson.org	37	11	99690461	99690461	+	Missense_Mutation	SNP	A	A	G	rs10893933		TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr11:99690461A>G	ENST00000524871.1	+	4	532	c.242A>G	c.(241-243)aAt>aGt	p.N81S	CNTN5_ENST00000418526.2_Intron|CNTN5_ENST00000528682.1_Missense_Mutation_p.N81S|CNTN5_ENST00000527185.1_Missense_Mutation_p.N81S|CNTN5_ENST00000279463.3_Missense_Mutation_p.N81S	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	81			N -> S (in dbSNP:rs10893933).		cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TCCCCCATCAATCTTTATCAT	0.428																																																0													53	52	52					11																	99690461		1877	4084	5961	SO:0001583	missense	53942			AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.242A>G	11.37:g.99690461A>G	ENSP00000435637:p.Asn81Ser		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	A	5.900	0.350168	0.11182	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000279463	T;T;T;T	0.53857	0.6;0.67;0.67;0.67	5.06	1.42	0.22433	.	0.775582	0.11744	N	0.533735	T	0.31513	0.0799	N	0.19112	0.55	0.31324	P	0.685664	B;B	0.19445	0.036;0.036	B;B	0.15052	0.012;0.012	T	0.37619	-0.9698	9	0.08179	T	0.78	.	8.939	0.35718	0.7862:0.0:0.2138:0.0	rs10893933;rs10893933	81;81	E9PKE8;O94779	.;CNTN5_HUMAN	S	81	ENSP00000433575:N81S;ENSP00000436185:N81S;ENSP00000435637:N81S;ENSP00000279463:N81S	ENSP00000279463:N81S	N	+	2	0	CNTN5	99195671	0.984000	0.35163	0.688000	0.30117	0.746000	0.42486	2.566000	0.45948	0.128000	0.18479	0.528000	0.53228	AAT		0.428	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		G	99690461	A	G	99690461	3	3	737	1	0	0	0	0	1	0	0	0	3646	101	4	3	248	3	CNTN5	11	99690461	Missense_Mutation	SNP	A	TCGA-KN-8431-01A-11D-2310-10	6172575	99690461	35316055	33	42752											
LST-3TM12	338821	hgsc.bcm.edu	37	12	21168673	21168673	+	Missense_Mutation	SNP	C	C	T	rs560786449		TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr12:21168673C>T	ENST00000421593.2	+	1	44	c.44C>T	c.(43-45)tCc>tTc	p.S15F	SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Intron|LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Intron	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	15						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						TTTGAGATATCCTCTTCTCTT	0.308													C|||	1	0.000199681	0.0008	0.0	5008	,	,		14693	0.0		0.0	False		,,,				2504	0.0															0													81	81	81					12																	21168673		2149	4285	6434	SO:0001583	missense	338821			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.44C>T	12.37:g.21168673C>T	ENSP00000394168:p.Ser15Phe		Q71QF0	Missense_Mutation	SNP	ENST00000421593.2	37	CCDS44843.1	.	.	.	.	.	.	.	.	.	.	.	13.32	2.201898	0.38905	.	.	ENSG00000205754	ENST00000421593	D	0.85171	-1.95	2.68	2.68	0.31781	.	0.613533	0.18029	N	0.153991	D	0.92011	0.7469	M	0.86502	2.82	0.80722	D	1	D	0.59357	0.985	D	0.65987	0.94	D	0.92969	0.6396	10	0.87932	D	0	.	12.7175	0.57123	0.0:1.0:0.0:0.0	.	15	G3V0H7	.	F	15	ENSP00000394168:S15F	ENSP00000394168:S15F	S	+	2	0	SLCO1B7	21059940	0.541000	0.26417	0.931000	0.37212	0.210000	0.24377	6.583000	0.74053	1.476000	0.48215	0.407000	0.27541	TCC		0.308	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1	NM_001009562		T	21168673	C	T	21168673	3	4	737	1	0	0	0	0	1	0	0	0	9068	855	30	2	46	2	LST-3TM12	12	21168673	Missense_Mutation	SNP	C	TCGA-KN-8431-01A-11D-2310-10		21168673	112683222	34	42753											
KDM2B	84678	ucsc.edu	37	12	121891003	121891003	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr12:121891003A>G	ENST00000377071.4	-	13	1951	c.1879T>C	c.(1879-1881)Tgc>Cgc	p.C627R	KDM2B_ENST00000536437.1_Missense_Mutation_p.C510R|KDM2B_ENST00000542973.1_5'UTR|KDM2B_ENST00000377069.4_Missense_Mutation_p.C596R	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	627					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						CAGAAGTGGCACTCTCCGCAC	0.692																																																0													26	31	29					12																	121891003		2048	4183	6231	SO:0001583	missense	84678			AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"F-boxes / Leucine-rich repeats", "Chromatin-modifying enzymes / K-demethylases"	13610	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1B"	609078	"F-box and leucine-rich repeat protein 10"	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.1879T>C	12.37:g.121891003A>G	ENSP00000366271:p.Cys627Arg		A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	ENST00000377071.4	37	CCDS41850.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.474763	0.84640	.	.	ENSG00000089094	ENST00000397480;ENST00000377069;ENST00000377071;ENST00000536437;ENST00000397478;ENST00000540043;ENST00000261824	T;T;T	0.77229	-0.16;-0.8;-1.08	5.03	5.03	0.67393	Zinc finger, CXXC-type (2);	0.000000	0.56097	D	0.000023	D	0.91043	0.7182	H	0.94847	3.59	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.997;0.999	D;D;D;D;D	0.87578	0.998;0.998;0.998;0.988;0.998	D	0.93505	0.6848	10	0.87932	D	0	-17.4654	14.9219	0.70843	1.0:0.0:0.0:0.0	.	67;510;627;596;67	B7ZB05;Q1RLM7;Q8NHM5;A8MRS1;B4DSN4	.;.;KDM2B_HUMAN;.;.	R	627;596;627;510;627;67;627	ENSP00000366269:C596R;ENSP00000366271:C627R;ENSP00000445196:C510R	ENSP00000261824:C627R	C	-	1	0	KDM2B	120375386	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.126000	0.94411	2.112000	0.64535	0.454000	0.30748	TGC		0.692	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590		G	121891003	A	G	121891003	3	3	737	1	0	0	0	0	1	0	0	0	8127	159	6	3	2227	3	KDM2B	12	121891003	Missense_Mutation	SNP	A	TCGA-KN-8431-01A-11D-2310-10	100722330	121891003	11960892	35	42754											
FLJ10357	55701	mdanderson.org	37	14	21549893	21549893	+	Missense_Mutation	SNP	G	G	C	rs7143633	byFrequency	TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr14:21549893G>C	ENST00000298694.4	+	14	2993	c.2866G>C	c.(2866-2868)Gtg>Ctg	p.V956L	ARHGEF40_ENST00000298693.3_Missense_Mutation_p.V956L			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	956			V -> L (in dbSNP:rs7143633). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:17974005}.			cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						CCAGCAACACGTGGGAGAGGA	0.741													C|||	3908	0.780351	0.798	0.8963	5008	,	,		15114	0.5546		0.836	False		,,,				2504	0.8497															0								C	LEU/VAL	3448,786		1409,630,78	8	10	9		2866	4.8	1	14	dbSNP_116	9	7161,1095		3118,925,85	yes	missense	ARHGEF40	NM_018071.3	32	4527,1555,163	CC,CG,GG		13.2631,18.564,15.06	benign	956/1520	21549893	10609,1881	2117	4128	6245	SO:0001583	missense	55701				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.2866G>C	14.37:g.21549893G>C	ENSP00000298694:p.Val956Leu		A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	Missense_Mutation	SNP	ENST00000298694.4	37	CCDS32041.1	1650	0.7554945054945055	392	0.7967479674796748	323	0.8922651933701657	308	0.5384615384615384	627	0.8271767810026385	C	0.838	-0.743038	0.03088	0.81436	0.867369	ENSG00000165801	ENST00000298694;ENST00000298693	T;T	0.01821	4.67;4.62	5.71	4.76	0.60689	.	0.000000	0.43260	N	0.000599	T	0.00012	0.0000	N	0.01352	-0.895	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.25152	-1.0140	9	0.02654	T	1	.	12.2401	0.54538	0.0:0.6703:0.3297:0.0	rs7143633;rs61154299;rs7143633	956;956;242	Q8TER5-4;Q8TER5;Q8TER5-2	.;ARH40_HUMAN;.	L	956	ENSP00000298694:V956L;ENSP00000298693:V956L	ENSP00000298693:V956L	V	+	1	0	ARHGEF40	20619733	0.310000	0.24527	0.974000	0.42286	0.417000	0.31264	0.545000	0.23268	1.428000	0.47296	-0.216000	0.12614	GTG		0.741	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413122.1			C	21549893	G	C	21549893	3	2	737	1	0	0	0	0	1	0	0	0	5928	1145	40	4	2920	4	FLJ10357	14	21549893	Missense_Mutation	SNP	G	TCGA-KN-8431-01A-11D-2310-10		21549893	85799647	36	42755											
MYH7	4625	broad.mit.edu;mdanderson.org	37	14	23892897	23892897	+	Missense_Mutation	SNP	A	A	T	rs140244068		TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr14:23892897A>T	ENST00000355349.3	-	24	3120	c.2958T>A	c.(2956-2958)gaT>gaA	p.D986E		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	986					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)		CAATGATCTCATCCAGCCCAG	0.552																																																0													152	144	147					14																	23892897		2203	4300	6503	SO:0001583	missense	4625			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.2958T>A	14.37:g.23892897A>T	ENSP00000347507:p.Asp986Glu		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	A	18.20	3.571521	0.65765	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.88664	-2.41	5.06	-3.3	0.05003	.	.	.	.	.	T	0.82268	0.5000	N	0.20483	0.58	0.40115	D	0.976535	P	0.39282	0.666	P	0.45712	0.491	T	0.75010	-0.3468	9	0.42905	T	0.14	.	11.5747	0.50854	0.6067:0.0:0.3933:0.0	.	986	P12883	MYH7_HUMAN	E	986	ENSP00000347507:D986E	ENSP00000347507:D986E	D	-	3	2	MYH7	22962737	0.743000	0.28239	0.990000	0.47175	0.962000	0.63368	0.029000	0.13666	-0.447000	0.07138	-0.290000	0.09829	GAT		0.552	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		T	23892897	A	T	23892897	3	4	737	1	0	0	0	0	1	0	0	0	10041	214	8	5	2917	5	MYH7	14	23892897	Missense_Mutation	SNP	A	TCGA-KN-8431-01A-11D-2310-10	2343004	23892897	83456643	37	42756											
SOS2	6655	mdanderson.org;bcgsc.ca	37	14	50626363	50626363	+	Missense_Mutation	SNP	A	A	T			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr14:50626363A>T	ENST00000216373.5	-	10	1912	c.1638T>A	c.(1636-1638)agT>agA	p.S546R	SOS2_ENST00000543680.1_Missense_Mutation_p.S513R|SOS2_ENST00000555794.1_5'UTR	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	546	PH. {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 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)					GATCTAGAGTACTACGATAAT	0.343																																																0													106	110	109					14																	50626363		2203	4300	6503	SO:0001583	missense	6655			L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11188	protein-coding gene	gene with protein product		601247	"son of sevenless (Drosophilia) homolog 2"			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.1638T>A	14.37:g.50626363A>T	ENSP00000216373:p.Ser546Arg		B7ZKT6|D3DSB4|Q15503|Q17RN1	Missense_Mutation	SNP	ENST00000216373.5	37	CCDS9697.1	.	.	.	.	.	.	.	.	.	.	A	14.73	2.621350	0.46736	.	.	ENSG00000100485	ENST00000216373;ENST00000543680	D;D	0.88124	-2.34;-2.34	5.24	1.63	0.23807	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.122555	0.85682	D	0.000000	D	0.87951	0.6307	M	0.81942	2.565	0.54753	D	0.999985	P;P;D	0.58620	0.866;0.913;0.983	B;B;P	0.48030	0.391;0.342;0.564	D	0.85809	0.1378	10	0.56958	D	0.05	.	9.9675	0.41734	0.5506:0.0:0.4494:0.0	.	513;576;546	B7ZKT6;Q59G32;Q07890	.;.;SOS2_HUMAN	R	546;513	ENSP00000216373:S546R;ENSP00000445328:S513R	ENSP00000216373:S546R	S	-	3	2	SOS2	49696113	0.972000	0.33761	1.000000	0.80357	0.991000	0.79684	0.220000	0.17660	0.099000	0.17552	0.477000	0.44152	AGT		0.343	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276878.2			T	50626363	A	T	50626363	3	4	737	1	0	0	0	0	1	0	0	0	14943	388	14	5	2416	5	SOS2	14	50626363	Missense_Mutation	SNP	A	TCGA-KN-8431-01A-11D-2310-10	26733466	50626363	56723177	38	42757											
SOS2	6655	broad.mit.edu;mdanderson.org	37	14	50626456	50626456	+	Silent	SNP	T	T	A			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr14:50626456T>A	ENST00000216373.5	-	10	1819	c.1545A>T	c.(1543-1545)gtA>gtT	p.V515V	SOS2_ENST00000543680.1_Silent_p.V482V|SOS2_ENST00000555794.1_5'UTR	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	515	PH. {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 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)					CATCTTTGGATACTAATTCAA	0.343																																																0													86	88	87					14																	50626456		2203	4300	6503	SO:0001819	synonymous_variant	6655			L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11188	protein-coding gene	gene with protein product		601247	"son of sevenless (Drosophilia) homolog 2"			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.1545A>T	14.37:g.50626456T>A			B7ZKT6|D3DSB4|Q15503|Q17RN1	Silent	SNP	ENST00000216373.5	37	CCDS9697.1																																																																																				0.343	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276878.2			A	50626456	T	A	50626456	2	1	737	1	0	0	0	0	0	0	0	1	14943	1393	49	5		5	SOS2	14	50626456	Silent	SNP	T	TCGA-KN-8431-01A-11D-2310-10	93	50626456	56723084	39	42758											
C14orf73	91828	broad.mit.edu;ucsc.edu	37	14	103576543	103576543	+	Silent	SNP	C	C	T			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr14:103576543C>T	ENST00000380069.3	+	11	2228	c.2152C>T	c.(2152-2154)Ctg>Ttg	p.L718L		NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN	exocyst complex component 3-like 4	718					exocytosis (GO:0006887)	exocyst (GO:0000145)				cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						CATGGCTGTGCTGATCACCTG	0.692																																																0													8	8	8					14																	103576543		2011	3950	5961	SO:0001819	synonymous_variant	91828			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.2152C>T	14.37:g.103576543C>T			Q14CR2	Silent	SNP	ENST00000380069.3	37	CCDS32163.1																																																																																				0.692	EXOC3L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415663.1	XM_941093		T	103576543	C	T	103576543	2	4	737	1	0	0	0	0	0	0	0	1	1781	796	28	2		2	C14orf73	14	103576543	Silent	SNP	C	TCGA-KN-8431-01A-11D-2310-10	52950087	103576543	3772997	40	42759											
CHAC1	79094	broad.mit.edu	37	15	41247647	41247647	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr15:41247647A>G	ENST00000446533.3	+	3	779	c.470A>G	c.(469-471)gAg>gGg	p.E157G	CHAC1_ENST00000487220.1_5'UTR|CHAC1_ENST00000444189.2_Intron	NM_001142776.1|NM_024111.3	NP_001136248.1|NP_077016.2	Q9BUX1	CHAC1_HUMAN	ChaC, cation transport regulator homolog 1 (E. coli)	157					intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of protein processing (GO:0010955)|neurogenesis (GO:0022008)|Notch signaling pathway (GO:0007219)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|trans-Golgi network (GO:0005802)	Notch binding (GO:0005112)			endometrium(1)|large_intestine(1)|skin(1)	3		all_cancers(109;1.42e-13)|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;2.66e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.163)		AATGTGCGAGAGGCAGTGCTT	0.577																																																0													219	167	185					15																	41247647		2203	4299	6502	SO:0001583	missense	79094			BC019625	CCDS10070.2, CCDS45233.1	15q15.1	2013-09-12	2006-09-12		ENSG00000128965	ENSG00000128965			28680	protein-coding gene	gene with protein product	"gamma-GCT acting on glutathione homolog 1"	614587	"ChaC, cation transport regulator-like 1 (E. coli)"			23070364	Standard	NM_024111		Approved	MGC4504	uc001znh.2	Q9BUX1	OTTHUMG00000130208	ENST00000446533.3:c.470A>G	15.37:g.41247647A>G	ENSP00000398105:p.Glu157Gly		Q0VIA0	Missense_Mutation	SNP	ENST00000446533.3	37	CCDS10070.2	.	.	.	.	.	.	.	.	.	.	A	18.28	3.589030	0.66105	.	.	ENSG00000128965	ENST00000446533	T	0.72942	-0.7	6.03	6.03	0.97812	Butirosin biosynthesis, BtrG-like (1);	0.046444	0.85682	D	0.000000	D	0.90383	0.6990	H	0.97874	4.095	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93794	0.7095	10	0.87932	D	0	-30.8996	16.5655	0.84588	1.0:0.0:0.0:0.0	.	157	Q9BUX1	CHAC1_HUMAN	G	157	ENSP00000398105:E157G	ENSP00000398105:E157G	E	+	2	0	CHAC1	39034939	1.000000	0.71417	0.842000	0.33263	0.012000	0.07955	9.271000	0.95698	2.302000	0.77476	0.533000	0.62120	GAG		0.577	CHAC1-001	KNOWN	downstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252526.3	NM_024111		G	41247647	A	G	41247647	3	3	737	1	0	0	0	0	1	0	0	0	3310	304	11	3	480	3	CHAC1	15	41247647	Missense_Mutation	SNP	A	TCGA-KN-8431-01A-11D-2310-10		41247647	61283745	41	42760											
CDH11	1009	hgsc.bcm.edu	37	16	65006841	65006841	+	Silent	SNP	G	G	T			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr16:65006841G>T	ENST00000268603.4	-	9	1971	c.1356C>A	c.(1354-1356)gcC>gcA	p.A452A	CDH11_ENST00000566827.1_Silent_p.A326A|CDH11_ENST00000394156.3_Silent_p.A452A	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	452	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)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TGTTGAGCCAGGCTGTTTCCT	0.388			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																													Dom	yes		16	16q22.1	1009	"cadherin 11, type 2, OB-cadherin (osteoblast)"		M	0													132	133	132					16																	65006841		2203	4300	6503	SO:0001819	synonymous_variant	1009			D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"Cadherins / Major cadherins"	1750	protein-coding gene	gene with protein product	"OB-Cadherin"	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.1356C>A	16.37:g.65006841G>T			A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Silent	SNP	ENST00000268603.4	37	CCDS10803.1																																																																																				0.388	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		T	65006841	G	T	65006841	2	4	737	1	0	0	0	0	0	0	0	1	3099	987	35	4		4	CDH11	16	65006841	Silent	SNP	G	TCGA-KN-8431-01A-11D-2310-10		65006841	25347912	42	42761											
ZFHX3	463	mdanderson.org	37	16	72991715	72991715	+	Missense_Mutation	SNP	A	A	G	rs4788682	byFrequency	TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr16:72991715A>G	ENST00000268489.5	-	2	3002	c.2330T>C	c.(2329-2331)gTg>gCg	p.V777A	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	777	Poly-Ala.		V -> A (in dbSNP:rs4788682). {ECO:0000269|PubMed:7592926}.		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)				cgccgcagccaccgccgccgc	0.642													G|||	3834	0.765575	0.7474	0.8862	5008	,	,		9194	0.6855		0.8559	False		,,,				2504	0.6943															0								G	,ALA/VAL	3072,924		1241,590,167	11	18	16		,2330	4.5	0	16	dbSNP_111	16	6627,1175		2887,853,161	no	intron,missense	ZFHX3	NM_001164766.1,NM_006885.3	,64	4128,1443,328	GG,GA,AA		15.0602,23.1231,17.7912	,benign	,777/3704	72991715	9699,2099	1998	3901	5899	SO:0001583	missense	463			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.2330T>C	16.37:g.72991715A>G	ENSP00000268489:p.Val777Ala		D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	CCDS10908.1	1678	0.7683150183150184	361	0.733739837398374	312	0.861878453038674	376	0.6573426573426573	629	0.8298153034300791	G	1.367	-0.587199	0.03827	0.768769	0.849398	ENSG00000140836	ENST00000268489	T	0.72615	-0.67	5.49	4.54	0.55810	.	0.000000	0.36555	N	0.002526	T	0.00012	0.0000	N	0.08118	0	0.09310	P	1.0	B	0.09022	0.002	B	0.01281	0.0	T	0.36553	-0.9743	9	0.10902	T	0.67	.	12.3576	0.55184	0.1365:0.0:0.8635:0.0	rs4788682;rs57247863	777	Q15911	ZFHX3_HUMAN	A	777	ENSP00000268489:V777A	ENSP00000268489:V777A	V	-	2	0	ZFHX3	71549216	1.000000	0.71417	0.004000	0.12327	0.024000	0.10985	5.328000	0.65887	0.709000	0.31976	-0.215000	0.12644	GTG		0.642	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		G	72991715	A	G	72991715	3	3	737	1	0	0	0	0	1	0	0	0	17639	159	6	3	8817	3	ZFHX3	16	72991715	Missense_Mutation	SNP	A	TCGA-KN-8431-01A-11D-2310-10	7984874	72991715	17363038	43	42762											
ACSF3	197322	broad.mit.edu;bcgsc.ca	37	16	89167160	89167160	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr16:89167160C>T	ENST00000317447.4	+	3	448	c.71C>T	c.(70-72)gCg>gTg	p.A24V	ACSF3_ENST00000378345.4_Intron|ACSF3_ENST00000406948.3_Missense_Mutation_p.A24V	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	24					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)		CTGGCGCCTGCGAGACACAGA	0.677																																																0													18	21	20					16																	89167160		2187	4275	6462	SO:0001583	missense	197322			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.71C>T	16.37:g.89167160C>T	ENSP00000320646:p.Ala24Val		A8K4J8|C9JQL6|Q6INA0|Q8N2F7	Missense_Mutation	SNP	ENST00000317447.4	37	CCDS10974.1	.	.	.	.	.	.	.	.	.	.	C	8.492	0.862167	0.17178	.	.	ENSG00000176715	ENST00000317447;ENST00000537290;ENST00000406948	T;T;T	0.55588	0.94;0.51;0.94	5.02	-2.79	0.05841	.	8.160970	0.00166	N	0.000000	T	0.21267	0.0512	N	0.02539	-0.55	0.09310	N	1	B	0.14805	0.011	B	0.04013	0.001	T	0.27571	-1.0070	10	0.06236	T	0.91	0.3531	3.8312	0.08874	0.1036:0.3059:0.4224:0.1682	.	24	Q4G176	ACSF3_HUMAN	V	24	ENSP00000320646:A24V;ENSP00000440734:A24V;ENSP00000384627:A24V	ENSP00000320646:A24V	A	+	2	0	ACSF3	87694661	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.995000	0.03712	-0.559000	0.06110	-1.027000	0.02421	GCG		0.677	ACSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269919.1	NM_174917		T	89167160	C	T	89167160	3	4	737	1	0	0	0	0	1	0	0	0	176	768	27	1	73	1	ACSF3	16	89167160	Missense_Mutation	SNP	C	TCGA-KN-8431-01A-11D-2310-10	16175445	89167160	1187593	44	42763											
AMAC1L3	643664	mdanderson.org	37	17	7386090	7386091	+	Missense_Mutation	DNP	GC	GC	AA	rs7209977|rs541352076	byFrequency	TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	GC	GC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr17:7386090_7386091GC>AA	ENST00000412468.2	+	2	902_903	c.787_788GC>AA	c.(787-789)GCc>AAc	p.A263N	ZBTB4_ENST00000311403.4_Intron|POLR2A_ENST00000572844.1_5'Flank|POLR2A_ENST00000322644.6_5'Flank	NM_001102614.1	NP_001096084.1	P0C7Q6	S35G6_HUMAN	solute carrier family 35, member G6	263			A -> T (in dbSNP:rs7209977).			integral component of membrane (GO:0016021)											GGGGATCCTCGCCTTGGTCTCC	0.634																																																0																																										SO:0001583	missense	643664				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		Exception_encountered	17.37:g.7386090_7386091delinsAA	ENSP00000396523:p.Ala263Asn			Missense_Mutation	DNP	ENST00000412468.2	37	CCDS45603.1																																																																																				0.634	SLC35G6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001102614		AA	7386091	GC	AA	7386090	3	1	737	1	0	0	0	0	1	0	0	0	561	1087	38	1	793	1	AMAC1L3	17	7386090	Missense_Mutation	DNP	GC	TCGA-KN-8431-01A-11D-2310-10		7386090	73809120	45	42764			2	100		2	2	25	N	GC_A	4.57402e-05
AMAC1L3	643664	mdanderson.org	37	17	7386114	7386114	+	Missense_Mutation	SNP	A	A	G	rs199996601	byFrequency	TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr17:7386114A>G	ENST00000412468.2	+	2	926	c.811A>G	c.(811-813)Agc>Ggc	p.S271G	ZBTB4_ENST00000311403.4_Intron|POLR2A_ENST00000572844.1_5'Flank|POLR2A_ENST00000322644.6_5'Flank	NM_001102614.1	NP_001096084.1	P0C7Q6	S35G6_HUMAN	solute carrier family 35, member G6	271						integral component of membrane (GO:0016021)											CACATGTGTGAGCTATGCGGT	0.592																																																0													137	112	120					17																	7386114		2203	4300	6503	SO:0001583	missense	643664				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.811A>G	17.37:g.7386114A>G	ENSP00000396523:p.Ser271Gly			Missense_Mutation	SNP	ENST00000412468.2	37	CCDS45603.1	.	.	.	.	.	.	.	.	.	.	A	0.943	-0.708930	0.03230	.	.	ENSG00000181222	ENST00000412468	T	0.52295	0.67	4.06	2.97	0.34412	.	.	.	.	.	T	0.34279	0.0892	L	0.44542	1.39	0.25098	N	0.99081	B	0.02656	0.0	B	0.04013	0.001	T	0.23940	-1.0174	9	0.22706	T	0.39	-2.9278	4.559	0.12151	0.7349:0.0:0.0961:0.1691	.	271	P0C7Q6	S35G6_HUMAN	G	271	ENSP00000396523:S271G	ENSP00000396523:S271G	S	+	1	0	SLC35G6	7326838	0.924000	0.31332	0.993000	0.49108	0.007000	0.05969	0.595000	0.24029	0.560000	0.29169	-0.516000	0.04426	AGC		0.592	SLC35G6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001102614		G	7386114	A	G	7386114	3	3	737	1	0	0	0	0	1	0	0	0	561	304	11	3	817	3	AMAC1L3	17	7386114	Missense_Mutation	SNP	A	TCGA-KN-8431-01A-11D-2310-10	24	7386114	73809096	46	42765			2	100		2	2	25	N	GC_A	4.57402e-05
TP53	7157	broad.mit.edu	37	17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A	rs397516436		TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr17:7578212G>A	ENST00000269305.4	-	6	826	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Nonsense_Mutation_p.R213*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_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)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	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)	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)	GRCh37	CM951226	TP53	M							132	118	123					17																	7578212		2203	4300	6503	SO:0001587	stop_gained	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.637C>T	17.37:g.7578212G>A	ENSP00000269305:p.Arg213*		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	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		A	7578212	G	A	7578212	4	1	737	1	0	0	0	0	0	1	0	0	16386	1066	37	1	657	1	TP53	17	7578212	Nonsense_Mutation	SNP	G	TCGA-KN-8431-01A-11D-2310-10	192098	7578212	73616998	47	42766											
RAI1	10743	ucsc.edu	37	17	17712752	17712752	+	Splice_Site	SNP	A	A	G			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr17:17712752A>G	ENST00000353383.1	+	5	6177	c.5708A>G	c.(5707-5709)aAg>aGg	p.K1903R	RAI1_ENST00000261641.6_Intron	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1903					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)		CCCAAACATAAGGTAGGGGAC	0.567																																																0													114	126	122					17																	17712752		2203	4300	6503	SO:0001630	splice_region_variant	10743			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.5709+1A>G	17.37:g.17712752A>G			Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	ENST00000353383.1	37	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.338487	0.81911	.	.	ENSG00000108557	ENST00000353383	T	0.70282	-0.47	4.87	3.77	0.43336	Zinc finger, PHD-type (1);	.	.	.	.	T	0.74589	0.3736	L	0.31926	0.97	0.80722	D	1	D	0.71674	0.998	D	0.85130	0.997	T	0.73072	-0.4098	9	0.45353	T	0.12	.	11.187	0.48662	0.8455:0.1545:0.0:0.0	.	1903	Q7Z5J4	RAI1_HUMAN	R	1903	ENSP00000323074:K1903R	ENSP00000323074:K1903R	K	+	2	0	RAI1	17653477	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	7.258000	0.78371	0.797000	0.33971	-0.438000	0.05819	AAG		0.567	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665	Missense_Mutation	G	17712752	A	G	17712752	5	3	737	1	0	0	0	0	0	0	1	0	13013	86	3	3	5718	3	RAI1	17	17712752	Splice_Site	SNP	A	TCGA-KN-8431-01A-11D-2310-10	10134540	17712752	63482458	48	42767											
HNF1B	6928	broad.mit.edu;hgsc.bcm.edu	37	17	36099508	36099510	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	TTG	TTG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr17:36099508_36099510delTTG	ENST00000225893.4	-	2	826_828	c.465_467delCAA	c.(463-468)aacaag>aag	p.N155del	HNF1B_ENST00000427275.2_In_Frame_Del_p.N155del|HNF1B_ENST00000560016.1_In_Frame_Del_p.N155del|HNF1B_ENST00000561193.1_In_Frame_Del_p.N155del	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	155					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)			AGGGGTGCCCTTGTTGAGATGCT	0.542																																					Colon(71;102 1179 9001 27917 43397)											0			GRCh37	CM060487	HNF1B	M																																				SO:0001651	inframe_deletion	6928			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.465_467delCAA	17.37:g.36099511_36099513delTTG	ENSP00000225893:p.Asn155del		B4DKM3|E0YMJ9	In_Frame_Del	DEL	ENST00000225893.4	37	CCDS11324.1																																																																																				0.542	HNF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256807.3	NM_000458		-	36099510	TTG	-	36099508	7	5	737	1	0	1	0	1	0	0	0	0	7254	1609	56	0	1238	0	HNF1B	17	36099508	In_Frame_Del	DEL	TTG	TCGA-KN-8431-01A-11D-2310-10	18386756	36099508	45095702	49	42768	403	2									
HNF1B	6928	bcgsc.ca	37	17	36099509	36099511	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	TTG	TTG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr17:36099509_36099511delTTG	ENST00000225893.4	-	2	825_827	c.464_466delCAA	c.(463-468)acaaag>aag	p.T155del	HNF1B_ENST00000427275.2_In_Frame_Del_p.T155del|HNF1B_ENST00000560016.1_In_Frame_Del_p.T155del|HNF1B_ENST00000561193.1_In_Frame_Del_p.T155del	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	155					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)			GGGGTGCCCTTGTTGAGATGCTG	0.547																																					Colon(71;102 1179 9001 27917 43397)											0			GRCh37	CM060487	HNF1B	M																																				SO:0001651	inframe_deletion	6928			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.464_466delCAA	17.37:g.36099509_36099511delTTG	ENSP00000225893:p.Thr155del		B4DKM3|E0YMJ9	In_Frame_Del	DEL	ENST00000225893.4	37	CCDS11324.1																																																																																				0.547	HNF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256807.3	NM_000458		-	36099511	TTG	-	36099509	7	5	737	1	0	1	0	1	0	0	0	0	7254	1821	63	0	1239	0	HNF1B	17	36099509	In_Frame_Del	DEL	TTG	TCGA-KN-8431-01A-11D-2310-10	1	36099509	45095701	50	42769	403	2									
UBTF	7343	broad.mit.edu	37	17	42289365	42289365	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr17:42289365T>C	ENST00000302904.4	-	9	1273	c.781A>G	c.(781-783)Aga>Gga	p.R261G	UBTF_ENST00000343638.5_Missense_Mutation_p.R224G|UBTF_ENST00000436088.1_Missense_Mutation_p.R261G|UBTF_ENST00000529383.1_Missense_Mutation_p.R261G|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000527034.1_Missense_Mutation_p.R224G|UBTF_ENST00000533177.1_Missense_Mutation_p.R224G|UBTF_ENST00000393606.3_Missense_Mutation_p.R224G|UBTF_ENST00000526094.1_Missense_Mutation_p.R224G			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	261					chromatin silencing at rDNA (GO:0000183)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|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)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		ATATAGTCTCTCATGATCTCC	0.607																																																0													138	126	130					17																	42289365		2203	4300	6503	SO:0001583	missense	7343			BC042297	CCDS11480.1, CCDS42346.1	17q21.31	2014-03-25			ENSG00000108312	ENSG00000108312			12511	protein-coding gene	gene with protein product		600673				9126496	Standard	NM_001076683		Approved	UBF, NOR-90, UBF1, UBF2	uc010czs.3	P17480	OTTHUMG00000167585	ENST00000302904.4:c.781A>G	17.37:g.42289365T>C	ENSP00000302640:p.Arg261Gly		A8K6R8	Missense_Mutation	SNP	ENST00000302904.4	37	CCDS11480.1	.	.	.	.	.	.	.	.	.	.	t	15.35	2.808102	0.50421	.	.	ENSG00000108312	ENST00000343638;ENST00000302904;ENST00000527034;ENST00000533177;ENST00000436088;ENST00000393606;ENST00000526094;ENST00000529383	D;D;D;D;D;D;D;D	0.98419	-4.88;-4.71;-4.92;-4.88;-4.71;-4.88;-4.88;-4.71	4.58	2.19	0.27852	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.061420	0.64402	N	0.000008	D	0.98204	0.9406	M	0.61703	1.905	0.49213	D	0.999767	D;P;D	0.76494	0.999;0.856;0.999	D;P;D	0.87578	0.997;0.771;0.998	D	0.96981	0.9715	10	0.25751	T	0.34	-8.2683	12.7655	0.57388	0.0:0.0:0.5518:0.4481	.	224;224;261	E9PKP7;P17480-2;P17480	.;.;UBF1_HUMAN	G	224;261;224;224;261;224;224;261	ENSP00000345297:R224G;ENSP00000302640:R261G;ENSP00000431539:R224G;ENSP00000437180:R224G;ENSP00000390669:R261G;ENSP00000377231:R224G;ENSP00000432925:R224G;ENSP00000435708:R261G	ENSP00000302640:R261G	R	-	1	2	UBTF	39644891	1.000000	0.71417	0.999000	0.59377	0.958000	0.62258	3.366000	0.52343	1.032000	0.39892	0.254000	0.18369	AGA		0.607	UBTF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395205.1	NM_014233		C	42289365	T	C	42289365	3	2	737	1	0	0	0	0	1	0	0	0	16914	1559	54	3	1565	3	UBTF	17	42289365	Missense_Mutation	SNP	T	TCGA-KN-8431-01A-11D-2310-10	6189856	42289365	38905845	51	42770											
ZACN	353174	ucsc.edu	37	17	74075997	74075997	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr17:74075997A>G	ENST00000334586.5	+	4	379	c.296A>G	c.(295-297)aAc>aGc	p.N99S	ZACN_ENST00000392503.2_Intron|EXOC7_ENST00000591724.1_5'Flank	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	99					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						CTGGCCTGGAACACTAGTGCA	0.612																																																0													47	43	45					17																	74075997		2202	4299	6501	SO:0001583	missense	353174			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.296A>G	17.37:g.74075997A>G	ENSP00000334854:p.Asn99Ser		Q2TB29|Q6ZWK3|Q86YW4	Missense_Mutation	SNP	ENST00000334586.5	37	CCDS11740.2	.	.	.	.	.	.	.	.	.	.	A	14.59	2.580793	0.46006	.	.	ENSG00000186919	ENST00000334586	T	0.80738	-1.41	3.79	3.79	0.43588	Neurotransmitter-gated ion-channel ligand-binding (3);	0.314541	0.28538	N	0.014981	T	0.79885	0.4523	M	0.65975	2.015	0.51233	D	0.999919	P	0.43826	0.818	P	0.44647	0.456	T	0.81167	-0.1056	10	0.59425	D	0.04	-24.5066	10.1512	0.42794	1.0:0.0:0.0:0.0	.	99	Q401N2	ZACN_HUMAN	S	99	ENSP00000334854:N99S	ENSP00000334854:N99S	N	+	2	0	ZACN	71587592	0.972000	0.33761	0.755000	0.31263	0.354000	0.29330	2.868000	0.48436	1.587000	0.49959	0.533000	0.62120	AAC		0.612	ZACN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347827.2	NM_180990		G	74075997	A	G	74075997	3	3	737	1	0	0	0	0	1	0	0	0	17515	43	2	3	310	3	ZACN	17	74075997	Missense_Mutation	SNP	A	TCGA-KN-8431-01A-11D-2310-10	31786632	74075997	7119213	52	42771											
AZI1	22994	broad.mit.edu	37	17	79164828	79164828	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr17:79164828T>C	ENST00000269392.4	-	23	3078	c.2831A>G	c.(2830-2832)gAg>gGg	p.E944G	AZI1_ENST00000374782.3_Missense_Mutation_p.E905G|AZI1_ENST00000450824.2_Missense_Mutation_p.E941G|AZI1_ENST00000575907.1_Missense_Mutation_p.E908G	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN		944					cell differentiation (GO:0030154)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|regulation of centrosome duplication (GO:0010824)|spermatogenesis (GO:0007283)	BBSome (GO:0034464)|cell projection (GO:0042995)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			AAGCTTCCGCTCCGACTGCTC	0.662																																																0													43	51	48					17																	79164828		2203	4299	6502	SO:0001583	missense	22994																														ENST00000269392.4:c.2831A>G	17.37:g.79164828T>C	ENSP00000269392:p.Glu944Gly		A6NHI8|B2RN11|Q96F50	Missense_Mutation	SNP	ENST00000269392.4	37		.	.	.	.	.	.	.	.	.	.	T	24.2	4.503710	0.85176	.	.	ENSG00000141577	ENST00000450824;ENST00000374782;ENST00000269392	T;T;T	0.20881	2.04;2.06;2.05	4.49	4.49	0.54785	.	0.000000	0.85682	D	0.000000	T	0.43964	0.1271	M	0.66939	2.045	0.58432	D	0.999993	D;D;D;D	0.89917	0.999;0.993;1.0;1.0	D;P;D;D	0.76575	0.928;0.888;0.988;0.988	T	0.43718	-0.9374	10	0.72032	D	0.01	-26.681	13.9375	0.64034	0.0:0.0:0.0:1.0	.	941;944;905;941	B2RN10;Q9UPN4;Q9UPN4-3;Q9UPN4-2	.;AZI1_HUMAN;.;.	G	941;905;944	ENSP00000393583:E941G;ENSP00000363914:E905G;ENSP00000269392:E944G	ENSP00000269392:E944G	E	-	2	0	AZI1	76779423	1.000000	0.71417	0.985000	0.45067	0.919000	0.55068	4.810000	0.62598	1.900000	0.55004	0.482000	0.46254	GAG		0.662	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000256070.1			C	79164828	T	C	79164828	3	2	737	1	0	0	0	0	1	0	0	0	1240	1551	54	3	436	3	AZI1	17	79164828	Missense_Mutation	SNP	T	TCGA-KN-8431-01A-11D-2310-10	5088831	79164828	2030382	53	42772											
INSL3	3640	mdanderson.org	37	19	17932289	17932289	+	Silent	SNP	C	C	T	rs2286663	byFrequency	TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr19:17932289C>T	ENST00000317306.7	-	1	43	c.27G>A	c.(25-27)gcG>gcA	p.A9A	INSL3_ENST00000379695.5_Silent_p.A9A	NM_005543.3	NP_005534.2	P51460	INSL3_HUMAN	insulin-like 3 (Leydig cell)	9					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cell-cell signaling (GO:0007267)|in utero embryonic development (GO:0001701)|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)|positive regulation of cell proliferation (GO:0008284)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|perinuclear region of cytoplasm (GO:0048471)	insulin receptor binding (GO:0005158)|protease binding (GO:0002020)|receptor binding (GO:0005102)			breast(1)|lung(1)	2						GCAGCACCAGCGCCCAGGCGG	0.726													C|||	615	0.122804	0.112	0.1513	5008	,	,		13113	0.2024		0.0547	False		,,,				2504	0.1053															0								C		234,3118		10,214,1452	4	7	6		27	-4.7	0.1	19	dbSNP_100	6	233,6007		3,227,2890	no	coding-synonymous	INSL3	NM_005543.2		13,441,4342	TT,TC,CC		3.734,6.9809,4.8686		9/132	17932289	467,9125	1676	3120	4796	SO:0001819	synonymous_variant	3640				CCDS12365.1, CCDS58655.1	19p13.2-p12	2013-02-26	2003-05-13			ENSG00000248099		"Endogenous ligands"	6086	protein-coding gene	gene with protein product	"prepro-INSL3"	146738	"relaxin-like factor"	RLNL		8020942	Standard	NM_001265587		Approved	RLF, MGC119818, MGC119819	uc010ebf.2	P51460		ENST00000317306.7:c.27G>A	19.37:g.17932289C>T			B4DZ72|G3XAG0|Q3KPI5|Q3KPI6|Q6YNB5|Q9UEA2|Q9UPH6	Silent	SNP	ENST00000317306.7	37	CCDS12365.1																																																																																				0.726	INSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466836.1	NM_005543		T	17932289	C	T	17932289	2	4	737	1	0	0	0	0	0	0	0	1	7769	755	27	1		1	INSL3	19	17932289	Silent	SNP	C	TCGA-KN-8431-01A-11D-2310-10		17932289	41196694	54	42773											
DLL3	10683	broad.mit.edu	37	19	39994863	39994863	+	Missense_Mutation	SNP	G	G	A	rs139297205		TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr19:39994863G>A	ENST00000205143.4	+	5	812	c.805G>A	c.(805-807)Gga>Aga	p.G269R	DLL3_ENST00000356433.5_Missense_Mutation_p.G269R	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	delta-like 3 (Drosophila)	269					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)			TGCTACCACCGGATGCCTTGT	0.642																																																0			GRCh37	CM065111	DLL3	M	rs139297205	G	ARG/GLY,ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	77	69	71		805,805	-0.6	0.2	19	dbSNP_134	71	5,8595	4.3+/-15.6	0,5,4295	yes	missense,missense	DLL3	NM_016941.3,NM_203486.2	125,125	0,6,6497	AA,AG,GG		0.0581,0.0227,0.0461	benign,benign	269/619,269/588	39994863	6,13000	2203	4300	6503	SO:0001583	missense	10683			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.805G>A	19.37:g.39994863G>A	ENSP00000205143:p.Gly269Arg		E9PFG2|Q8NBS4	Missense_Mutation	SNP	ENST00000205143.4	37	CCDS12538.1	.	.	.	.	.	.	.	.	.	.	G	4.072	0.011286	0.07912	2.27E-4	5.81E-4	ENSG00000090932	ENST00000356433;ENST00000205143	D;D	0.89617	-2.49;-2.54	5.4	-0.643	0.11482	.	0.427722	0.19935	N	0.102780	T	0.64627	0.2615	N	0.02158	-0.66	0.18873	N	0.999982	B;B;B	0.11235	0.004;0.002;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.56817	-0.7916	9	.	.	.	.	4.0338	0.09721	0.2132:0.1101:0.5644:0.1123	.	269;269;269	Q8NBS4;Q9NYJ7;E9PFG2	.;DLL3_HUMAN;.	R	269	ENSP00000348810:G269R;ENSP00000205143:G269R	.	G	+	1	0	DLL3	44686703	0.991000	0.36638	0.191000	0.23289	0.009000	0.06853	2.220000	0.42908	0.369000	0.24510	-1.020000	0.02445	GGA		0.642	DLL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464958.1			A	39994863	G	A	39994863	3	1	737	1	0	0	0	0	1	0	0	0	4569	1117	39	1	823	1	DLL3	19	39994863	Missense_Mutation	SNP	G	TCGA-KN-8431-01A-11D-2310-10	22062574	39994863	19134120	55	42774											
DYRK1B	9149	broad.mit.edu	37	19	40321175	40321176	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr19:40321175_40321176insC	ENST00000593685.1	-	4	679_680	c.211_212insG	c.(211-213)gccfs	p.A71fs	DYRK1B_ENST00000323039.5_Frame_Shift_Ins_p.A71fs|DYRK1B_ENST00000430012.2_Frame_Shift_Ins_p.A71fs|DYRK1B_ENST00000348817.3_Frame_Shift_Ins_p.A71fs|DYRK1B_ENST00000601972.1_Frame_Shift_Ins_p.A71fs|DYRK1B_ENST00000597639.1_Frame_Shift_Ins_p.A71fs			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	71					adipose tissue development (GO:0060612)|myoblast fusion (GO:0007520)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|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)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			CGCCTGCTGGGCCCGCCGCTTC	0.584																																																0																																										SO:0001589	frameshift_variant	9149			Y17999	CCDS12543.1, CCDS12544.1, CCDS46075.1	19q13.2	2012-10-02			ENSG00000105204	ENSG00000105204	2.7.12.1		3092	protein-coding gene	gene with protein product	"minibrain-related kinase"	604556				9918863	Standard	XM_005259395		Approved	MIRK	uc002omj.3	Q9Y463		ENST00000593685.1:c.212dupG	19.37:g.40321178_40321178dupC	ENSP00000469863:p.Ala71fs		O75258|O75788|O75789	Frame_Shift_Ins	INS	ENST00000593685.1	37	CCDS12543.1																																																																																				0.584	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462874.2	NM_004714		C	40321176	-	C	40321175	7	5	737	1	0	1	1	0	0	0	0	0	4857	1203	42	0	1709	0	DYRK1B	19	40321175	Frame_Shift_Ins	INS	-	TCGA-KN-8431-01A-11D-2310-10	326312	40321175	18807808	56	42775											
ZNF180	7733	broad.mit.edu	37	19	44980907	44980907	+	Silent	SNP	T	T	C			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr19:44980907T>C	ENST00000221327.4	-	5	2072	c.1791A>G	c.(1789-1791)agA>agG	p.R597R	AC069278.4_ENST00000591684.1_lincRNA|ZNF180_ENST00000391956.4_Silent_p.R572R|ZNF180_ENST00000592529.1_Silent_p.R570R|ZNF180_ENST00000585514.1_5'Flank	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	597					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)				CAGTATGAGTTCTCTGATGTA	0.418																																					Esophageal Squamous(180;1353 2003 32862 46574 49854)											0													107	109	108					19																	44980907		2203	4300	6503	SO:0001819	synonymous_variant	7733			AF192913	CCDS12639.1, CCDS62707.1, CCDS62708.1	19q13.2	2013-01-08	2006-08-22			ENSG00000167384		"Zinc fingers, C2H2-type", "-"	12970	protein-coding gene	gene with protein product		606740	"zinc finger protein 180 (HHZ168)"				Standard	NM_001288762		Approved	HHZ168	uc002ozf.4	Q9UJW8		ENST00000221327.4:c.1791A>G	19.37:g.44980907T>C			B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	Silent	SNP	ENST00000221327.4	37	CCDS12639.1																																																																																				0.418	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451601.1	NM_013256		C	44980907	T	C	44980907	2	2	737	1	0	0	0	0	0	0	0	1	17753	1780	62	3		3	ZNF180	19	44980907	Silent	SNP	T	TCGA-KN-8431-01A-11D-2310-10	4659732	44980907	14148076	57	42776											
SRC	6714	broad.mit.edu;bcgsc.ca	37	20	36022638	36022638	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr20:36022638C>T	ENST00000373578.2	+	7	860	c.511C>T	c.(511-513)Ccg>Tcg	p.P171S	SRC_ENST00000358208.4_Missense_Mutation_p.P171S|SRC_ENST00000360723.4_Missense_Mutation_p.P177S|SRC_ENST00000373558.2_Missense_Mutation_p.P177S|SRC_ENST00000445403.1_Missense_Mutation_p.P171S|SRC_ENST00000373567.2_Missense_Mutation_p.P171S	NM_198291.1	NP_938033.1	P12931	SRC_HUMAN	SRC proto-oncogene, non-receptor tyrosine kinase	171	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cellular response to progesterone stimulus (GO:0071393)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|membrane organization (GO:0061024)|negative regulation of anoikis (GO:2000811)|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)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of mitochondrial depolarization (GO:0051902)|negative regulation of protein homooligomerization (GO:0032463)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oogenesis (GO:0048477)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of integrin activation (GO:0033625)|positive regulation of podosome assembly (GO:0071803)|positive regulation of protein kinase B signaling (GO:0051897)|progesterone receptor signaling pathway (GO:0050847)|protein autophosphorylation (GO:0046777)|Ras protein signal transduction (GO:0007265)|regulation of bone resorption (GO:0045124)|regulation of caveolin-mediated endocytosis (GO:2001286)|regulation of cell-cell adhesion (GO:0022407)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of epithelial cell migration (GO:0010632)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of protein binding (GO:0043393)|regulation of vascular permeability (GO:0043114)|response to interleukin-1 (GO:0070555)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|stress fiber assembly (GO:0043149)|T cell costimulation (GO:0031295)|transforming growth factor beta receptor signaling pathway (GO:0007179)|uterus development (GO:0060065)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|ephrin receptor binding (GO:0046875)|growth factor receptor binding (GO:0070851)|heme binding (GO:0020037)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Bosutinib(DB06616)|Dasatinib(DB01254)|Ponatinib(DB08901)	TGCAGAGAACCCGAGAGGGAC	0.567																																																0													103	100	101					20																	36022638		2203	4300	6503	SO:0001583	missense	6714			AF077754	CCDS13294.1	20q12-q13	2014-06-25	2014-06-25		ENSG00000197122	ENSG00000197122		"SH2 domain containing"	11283	protein-coding gene	gene with protein product		190090	"v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog"	SRC1		2582238	Standard	NM_005417		Approved	ASV, c-src	uc002xgy.3	P12931	OTTHUMG00000032417	ENST00000373578.2:c.511C>T	20.37:g.36022638C>T	ENSP00000362680:p.Pro171Ser		E1P5V4|Q76P87|Q86VB9|Q9H5A8	Missense_Mutation	SNP	ENST00000373578.2	37	CCDS13294.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.760002	0.31137	.	.	ENSG00000197122	ENST00000445403;ENST00000373578;ENST00000360723;ENST00000358208;ENST00000373567;ENST00000373558	D;D;D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42;-2.42;-2.42	4.88	4.88	0.63580	SH2 motif (4);	0.110608	0.64402	D	0.000014	D	0.85427	0.5694	L	0.45352	1.415	0.44469	D	0.997404	P	0.41080	0.737	B	0.41135	0.348	D	0.83441	0.0043	10	0.23302	T	0.38	.	15.5649	0.76284	0.0:1.0:0.0:0.0	.	171	P12931	SRC_HUMAN	S	171;171;177;171;171;177	ENSP00000408503:P171S;ENSP00000362680:P171S;ENSP00000353950:P177S;ENSP00000350941:P171S;ENSP00000362668:P171S;ENSP00000362659:P177S	ENSP00000350941:P171S	P	+	1	0	SRC	35456052	1.000000	0.71417	0.985000	0.45067	0.663000	0.39108	3.598000	0.54038	2.526000	0.85167	0.561000	0.74099	CCG		0.567	SRC-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268142.1	NM_005417		T	36022638	C	T	36022638	3	4	737	1	0	0	0	0	1	0	0	0	15139	623	22	2	525	2	SRC	20	36022638	Missense_Mutation	SNP	C	TCGA-KN-8431-01A-11D-2310-10		36022638	27002882	58	42777											
DSCAM	1826	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	21	41684190	41684190	+	Missense_Mutation	SNP	G	G	A	rs565609019		TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr21:41684190G>A	ENST00000400454.1	-	9	2357	c.1880C>T	c.(1879-1881)aCg>aTg	p.T627M		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	627	Ig-like C2-type 7.				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)				CCAGGTGATCGTGATGGGTAA	0.532													G|||	1	0.000199681	0.0	0.0	5008	,	,		15104	0.0		0.0	False		,,,				2504	0.001				Melanoma(134;970 1778 1785 21664 32388)											0													64	62	63					21																	41684190		1907	4135	6042	SO:0001583	missense	1826			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.1880C>T	21.37:g.41684190G>A	ENSP00000383303:p.Thr627Met		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.921590	0.52653	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.68479	-0.33;-0.33	5.55	4.64	0.57946	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.259938	0.38959	N	0.001504	T	0.74779	0.3761	M	0.72118	2.19	0.30527	N	0.767845	D	0.56287	0.975	P	0.52758	0.708	T	0.75795	-0.3192	10	0.37606	T	0.19	.	16.2728	0.82629	0.0:0.1328:0.8672:0.0	.	627	O60469	DSCAM_HUMAN	M	627;379	ENSP00000383303:T627M;ENSP00000385342:T379M	ENSP00000383303:T627M	T	-	2	0	DSCAM	40606060	0.969000	0.33509	0.960000	0.40013	0.808000	0.45660	1.706000	0.37878	1.284000	0.44531	0.563000	0.77884	ACG		0.532	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		A	41684190	G	A	41684190	3	1	737	1	0	0	0	0	1	0	0	0	4770	1145	40	1	4258	1	DSCAM	21	41684190	Missense_Mutation	SNP	G	TCGA-KN-8431-01A-11D-2310-10		41684190	6445705	59	42778											
HMGXB4	10042	broad.mit.edu	37	22	35661575	35661576	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	AG	AG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr22:35661575_35661576delAG	ENST00000216106.5	+	5	1322_1323	c.1194_1195delAG	c.(1192-1197)aaagagfs	p.E399fs	HMGXB4_ENST00000444518.2_Frame_Shift_Del_p.E290fs	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	399					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						agaaggacaaagagagagagag	0.465																																																0																																										SO:0001589	frameshift_variant	10042			AJ010069	CCDS33641.1	22q13	2011-07-01	2009-01-05	2009-01-05	ENSG00000100281	ENSG00000100281		"High mobility group / Non-canonical"	5003	protein-coding gene	gene with protein product		604702	"high-mobility group protein 2-like 1"	HMG2L1		10329004, 10591208, 20511232	Standard	NM_001003681		Approved	THC211630	uc003anl.3	Q9UGU5	OTTHUMG00000150439	ENST00000216106.5:c.1194_1195delAG	22.37:g.35661585_35661586delAG	ENSP00000216106:p.Glu399fs		O75672|O75673|Q9UMT5	Frame_Shift_Del	DEL	ENST00000216106.5	37	CCDS33641.1																																																																																				0.465	HMGXB4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318104.2	NM_005487		-	35661576	AG	-	35661575	7	5	737	1	0	1	0	1	0	0	0	0	7241	69	3	0	1208	0	HMGXB4	22	35661575	Frame_Shift_Del	DEL	AG	TCGA-KN-8431-01A-11D-2310-10		35661575	15642991	60	42779											
FAM47C	442444	mdanderson.org	37	X	37028209	37028209	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chrX:37028209G>A	ENST00000358047.3	+	1	1778	c.1726G>A	c.(1726-1728)Gat>Aat	p.D576N		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	576								p.D576N(2)		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						GGAGCCTCCCGATACTGGAGT	0.647													-|||	4	0.0010596	0.003	0.0	3775	,	,		11352	0.0		0.0	False		,,,				2504	0.0															2	Substitution - Missense(2)	skin(2)											53	60	57					X																	37028209		2202	4300	6502	SO:0001583	missense	442444			AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1726G>A	X.37:g.37028209G>A	ENSP00000367913:p.Asp576Asn		Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	13.20	2.164778	0.38217	.	.	ENSG00000198173	ENST00000358047	T	0.13778	2.56	1.68	-1.72	0.08107	.	.	.	.	.	T	0.02970	0.0088	N	0.04508	-0.205	0.09310	N	1	P	0.40197	0.706	B	0.21917	0.037	T	0.34453	-0.9828	9	0.21014	T	0.42	.	0.8287	0.01126	0.1821:0.2196:0.3774:0.2209	.	576	Q5HY64	FA47C_HUMAN	N	576	ENSP00000367913:D576N	ENSP00000367913:D576N	D	+	1	0	FAM47C	36938130	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-1.469000	0.02348	-0.773000	0.04596	0.400000	0.26472	GAT		0.647	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		A	37028209	G	A	37028209	3	1	737	1	0	0	0	0	1	0	0	0	5573	1058	37	1	1728	1	FAM47C	23	37028209	Missense_Mutation	SNP	G	TCGA-KN-8431-01A-11D-2310-10		37028209	118242351	61	42780											
WAS	7454	broad.mit.edu;mdanderson.org;bcgsc.ca	37	X	48545247	48545247	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chrX:48545247C>T	ENST00000376701.4	+	7	712	c.637C>T	c.(637-639)Cgt>Tgt	p.R213C	WAS_ENST00000483750.1_3'UTR	NM_000377.2	NP_000368.1	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome	213					actin filament polymerization (GO:0030041)|actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|blood coagulation (GO:0007596)|defense response (GO:0006952)|endosomal transport (GO:0016197)|epidermis development (GO:0008544)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|protein complex assembly (GO:0006461)|regulation of catalytic activity (GO:0050790)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|phospholipase binding (GO:0043274)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				TTCACGATACCGTGGGCTCCC	0.567			"Mis, N, F, S"			lymphoma																																	X-linked recessive		Wiskott-Aldrich syndrome	X	Xp11.23-p11.22	7454	Wiskott-Aldrich syndrome		L	0													89	70	76					X																	48545247		2203	4300	6503	SO:0001583	missense	7454			AF115548	CCDS14303.1	Xp11.4-p11.21	2014-09-17	2012-07-12		ENSG00000015285	ENSG00000015285			12731	protein-coding gene	gene with protein product	"eczema-thrombocytopenia"	300392	"thrombocytopenia 1 (X-linked)", "Wiskott-Aldrich syndrome (eczema-thrombocytopenia)"	IMD2, THC		7795648	Standard	NM_000377		Approved	WASP	uc004dkm.4	P42768	OTTHUMG00000034483	ENST00000376701.4:c.637C>T	X.37:g.48545247C>T	ENSP00000365891:p.Arg213Cys		Q9BU11|Q9UNJ9	Missense_Mutation	SNP	ENST00000376701.4	37	CCDS14303.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.652001	0.67472	.	.	ENSG00000015285	ENST00000450772;ENST00000376701	D;D	0.99741	-6.49;-6.6	4.39	4.39	0.52855	.	0.000000	0.85682	D	0.000000	D	0.99444	0.9803	L	0.52011	1.625	0.58432	D	0.999991	D	0.89917	1.0	D	0.74023	0.982	D	0.98302	1.0519	10	0.72032	D	0.01	-7.2719	13.6191	0.62126	0.0:1.0:0.0:0.0	.	213	P42768	WASP_HUMAN	C	213	ENSP00000410537:R213C;ENSP00000365891:R213C	ENSP00000365891:R213C	R	+	1	0	WAS	48430191	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	5.209000	0.65208	1.777000	0.52277	0.279000	0.19357	CGT		0.567	WAS-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083379.1	NM_000377		T	48545247	C	T	48545247	3	4	737	1	0	0	0	0	1	0	0	0	17256	652	23	1	663	1	WAS	23	48545247	Missense_Mutation	SNP	C	TCGA-KN-8431-01A-11D-2310-10	11517038	48545247	106725313	62	42781											
ZDHHC9	51114	bcgsc.ca	37	X	128945410	128945410	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chrX:128945410C>T	ENST00000357166.6	-	9	1244	c.853G>A	c.(853-855)Gaa>Aaa	p.E285K	ZDHHC9_ENST00000371064.3_Missense_Mutation_p.E285K	NM_016032.3	NP_057116.2	Q9Y397	ZDHC9_HUMAN	zinc finger, DHHC-type containing 9	285					peptidyl-L-cysteine S-palmitoylation (GO:0018230)|protein palmitoylation (GO:0018345)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|palmitoyltransferase complex (GO:0002178)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|Ras palmitoyltransferase activity (GO:0043849)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	19						CACAGCACTTCACAGCAGTTC	0.517																																																0													123	88	100					X																	128945410		2203	4300	6503	SO:0001583	missense	51114			AF151847	CCDS35395.1	Xq26.1	2008-02-05			ENSG00000188706	ENSG00000188706		"Zinc fingers, DHHC-type"	18475	protein-coding gene	gene with protein product		300646	"zinc finger, DHHC-type containing 10", "chromosome X open reading frame 11"	ZDHHC10, CXorf11		10810093	Standard	NM_001008222		Approved	ZNF379, CGI-89, ZNF380	uc004euw.3	Q9Y397	OTTHUMG00000022375	ENST00000357166.6:c.853G>A	X.37:g.128945410C>T	ENSP00000349689:p.Glu285Lys		B4F6G2|D3DTF9|Q59EK4|Q5JSW5|Q8WWS7|Q9BPY4|Q9NSP0|Q9NVL0|Q9NVR6	Missense_Mutation	SNP	ENST00000357166.6	37	CCDS35395.1	.	.	.	.	.	.	.	.	.	.	C	19.31	3.803195	0.70682	.	.	ENSG00000188706	ENST00000357166;ENST00000371064	T;T	0.41400	1.0;1.0	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.37433	0.1003	L	0.38175	1.15	0.80722	D	1	B	0.19706	0.038	B	0.20955	0.032	T	0.09292	-1.0681	10	0.33940	T	0.23	-9.4076	18.1866	0.89795	0.0:1.0:0.0:0.0	.	285	Q9Y397	ZDHC9_HUMAN	K	285	ENSP00000349689:E285K;ENSP00000360103:E285K	ENSP00000349689:E285K	E	-	1	0	ZDHHC9	128773091	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.666000	0.68059	2.419000	0.82065	0.594000	0.82650	GAA		0.517	ZDHHC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058213.1	NM_016032		T	128945410	C	T	128945410	3	4	737	1	0	0	0	0	1	0	0	0	17627	835	29	2	253	2	ZDHHC9	23	128945410	Missense_Mutation	SNP	C	TCGA-KN-8431-01A-11D-2310-10	80400163	128945410	26325150	63	42782											
TMEM51	55092	broad.mit.edu	37	1	15545898	15545898	+	Missense_Mutation	SNP	A	A	T			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr1:15545898A>T	ENST00000428417.1	+	3	867	c.421A>T	c.(421-423)Aac>Tac	p.N141Y	TMEM51_ENST00000434578.2_3'UTR|TMEM51_ENST00000376014.3_Missense_Mutation_p.N141Y|TMEM51_ENST00000400796.3_Missense_Mutation_p.N141Y|TMEM51_ENST00000376008.2_Missense_Mutation_p.N141Y	NM_001136217.1	NP_001129689.1	Q9NW97	TMM51_HUMAN	transmembrane protein 51	141						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(3)|large_intestine(2)|lung(5)|prostate(2)	14		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)		GATGAACACAAACTACTCAGA	0.557																																																0													94	90	91					1																	15545898		2203	4300	6503	SO:0001583	missense	55092			AK098467	CCDS154.1	1p36.21	2008-02-05	2005-05-22	2005-05-22	ENSG00000171729	ENSG00000171729			25488	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 72"	C1orf72		12477932	Standard	NM_018022		Approved	FLJ10199	uc001avx.3	Q9NW97	OTTHUMG00000002046	ENST00000428417.1:c.421A>T	1.37:g.15545898A>T	ENSP00000394899:p.Asn141Tyr		A8K819	Missense_Mutation	SNP	ENST00000428417.1	37	CCDS154.1	.	.	.	.	.	.	.	.	.	.	A	15.89	2.965433	0.53507	.	.	ENSG00000171729	ENST00000428417;ENST00000376014;ENST00000451326;ENST00000434578;ENST00000400796;ENST00000376008;ENST00000303840	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	5.63	2.01	0.26516	.	0.282098	0.44285	D	0.000471	T	0.29652	0.0740	L	0.44542	1.39	0.23366	N	0.997829	P	0.48016	0.904	P	0.47251	0.542	T	0.11179	-1.0598	10	0.72032	D	0.01	1.1303	8.5456	0.33419	0.5697:0.0:0.4303:0.0	.	141	Q9NW97	TMM51_HUMAN	Y	141	ENSP00000394899:N141Y;ENSP00000365182:N141Y;ENSP00000383600:N141Y;ENSP00000365176:N141Y	ENSP00000303666:N141Y	N	+	1	0	TMEM51	15418485	0.984000	0.35163	0.961000	0.40146	0.964000	0.63967	2.179000	0.42528	0.092000	0.17331	0.454000	0.30748	AAC		0.557	TMEM51-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005699.3	NM_018022		T	15545898	A	T	15545898	3	4	738	1	0	0	0	0	1	0	0	0	16182	14	1	5	427	5	TMEM51	1	15545898	Missense_Mutation	SNP	A	TCGA-KN-8432-01A-11D-2310-10		15545898	233704723	1	42783											
IGSF21	84966	broad.mit.edu;mdanderson.org	37	1	18692186	18692186	+	Missense_Mutation	SNP	C	C	T	rs374130273		TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr1:18692186C>T	ENST00000251296.1	+	6	1393	c.1010C>T	c.(1009-1011)aCg>aTg	p.T337M		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	337						extracellular region (GO:0005576)				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		GCAGAGGTCACGCTGGGTAAG	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		19210	0.0		0.001	False		,,,				2504	0.0															0								C	MET/THR	1,4403	2.1+/-5.4	0,1,2201	46	38	41		1010	2.6	1	1		41	0,8600		0,0,4300	no	missense	IGSF21	NM_032880.4	81	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	337/468	18692186	1,13003	2202	4300	6502	SO:0001583	missense	84966			AK075316	CCDS184.1	1p36.13	2013-01-29			ENSG00000117154	ENSG00000117154		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	28246	protein-coding gene	gene with protein product						12477932	Standard	NM_032880		Approved	MGC15730, RP11-121A23.1	uc001bau.2	Q96ID5	OTTHUMG00000002432	ENST00000251296.1:c.1010C>T	1.37:g.18692186C>T	ENSP00000251296:p.Thr337Met		Q8NBR8	Missense_Mutation	SNP	ENST00000251296.1	37	CCDS184.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.277902	0.59758	2.27E-4	0.0	ENSG00000117154	ENST00000251296	T	0.33654	1.4	4.53	2.6	0.31112	Immunoglobulin-like fold (1);	0.209202	0.49305	D	0.000158	T	0.38719	0.1051	L	0.27053	0.805	0.51767	D	0.999934	D	0.89917	1.0	D	0.63192	0.912	T	0.08722	-1.0708	10	0.35671	T	0.21	-18.4742	9.5314	0.39196	0.0:0.82:0.0:0.18	.	337	Q96ID5	IGS21_HUMAN	M	337	ENSP00000251296:T337M	ENSP00000251296:T337M	T	+	2	0	IGSF21	18564773	0.997000	0.39634	1.000000	0.80357	0.963000	0.63663	2.192000	0.42649	1.025000	0.39708	0.491000	0.48974	ACG		0.612	IGSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006924.1	NM_032880		T	18692186	C	T	18692186	3	4	738	1	0	0	0	0	1	0	0	0	7601	536	19	1	1032	1	IGSF21	1	18692186	Missense_Mutation	SNP	C	TCGA-KN-8432-01A-11D-2310-10	3146288	18692186	230558435	2	42784											
INADL	10207	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	62380292	62380292	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr1:62380292A>G	ENST00000371158.2	+	26	3640	c.3526A>G	c.(3526-3528)Atc>Gtc	p.I1176V	INADL_ENST00000316485.6_Missense_Mutation_p.I1176V	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1176					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						GGCCAACAAAATCACCGGTAA	0.358																																																0													92	98	96					1																	62380292		2203	4300	6503	SO:0001583	missense	10207			AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.3526A>G	1.37:g.62380292A>G	ENSP00000360200:p.Ile1176Val		O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	ENST00000371158.2	37	CCDS617.2	.	.	.	.	.	.	.	.	.	.	A	0.171	-1.071684	0.01918	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513	T;T	0.11604	2.89;2.76	4.69	-2.35	0.06684	.	0.883263	0.09789	N	0.755596	T	0.07503	0.0189	L	0.43152	1.355	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.06405	0.002;0.001;0.002	T	0.44667	-0.9313	10	0.15499	T	0.54	.	5.5168	0.16912	0.3216:0.3144:0.364:0.0	.	1176;1176;1176	F8W8T2;Q8NI35;Q8NI35-4	.;INADL_HUMAN;.	V	1176	ENSP00000360200:I1176V;ENSP00000326199:I1176V	ENSP00000326199:I1176V	I	+	1	0	INADL	62152880	0.001000	0.12720	0.001000	0.08648	0.017000	0.09413	0.124000	0.15728	-0.165000	0.10908	-0.370000	0.07254	ATC		0.358	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		G	62380292	A	G	62380292	3	3	738	1	0	0	0	0	1	0	0	0	7733	101	4	3	3624	3	INADL	1	62380292	Missense_Mutation	SNP	A	TCGA-KN-8432-01A-11D-2310-10	43688106	62380292	186870329	3	42785											
LEPR	3953	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	66102278	66102278	+	Missense_Mutation	SNP	T	T	G	rs34130975		TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr1:66102278T>G	ENST00000349533.6	+	20	3263	c.3078T>G	c.(3076-3078)aaT>aaG	p.N1026K	LEPR_ENST00000406510.3_Missense_Mutation_p.N93K	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)		CTTTCTCTAATAGCTCATGGG	0.398																																																0													76	84	81					1																	66102278		2200	4297	6497	SO:0001583	missense	3953			U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.3078T>G	1.37:g.66102278T>G	ENSP00000330393:p.Asn1026Lys		Q6FHL5	Missense_Mutation	SNP	ENST00000349533.6	37	CCDS631.1	.	.	.	.	.	.	.	.	.	.	T	4.357	0.065741	0.08388	.	.	ENSG00000116678	ENST00000349533;ENST00000406510	T	0.55760	0.5	5.4	-2.75	0.05914	.	0.793868	0.12345	N	0.477125	T	0.16514	0.0397	L	0.33485	1.01	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.27938	-1.0059	10	0.44086	T	0.13	-0.5985	7.554	0.27814	0.0:0.4301:0.2383:0.3316	.	1026	P48357	LEPR_HUMAN	K	1026;93	ENSP00000330393:N1026K	ENSP00000330393:N1026K	N	+	3	2	LEPR	65874866	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.591000	0.05753	-0.675000	0.05246	-1.133000	0.01973	AAT		0.398	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		G	66102278	T	G	66102278	3	3	738	1	0	0	0	0	1	0	0	0	8730	1403	49	5	3378	5	LEPR	1	66102278	Missense_Mutation	SNP	T	TCGA-KN-8432-01A-11D-2310-10	3721986	66102278	183148343	4	42786											
HIPK1	204851	hgsc.bcm.edu;bcgsc.ca	37	1	114483037	114483037	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr1:114483037C>T	ENST00000369558.1	+	2	264	c.32C>T	c.(31-33)cCa>cTa	p.P11L	HIPK1_ENST00000369561.4_Missense_Mutation_p.P11L|HIPK1_ENST00000369559.4_Missense_Mutation_p.P11L|HIPK1_ENST00000426820.2_Missense_Mutation_p.P11L|HIPK1_ENST00000369554.2_Missense_Mutation_p.P11L|HIPK1_ENST00000369555.2_Missense_Mutation_p.P11L			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	11					anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-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)		TTTTCGCCCCCATCAGTGTCG	0.433																																																0													146	158	154					1																	114483037		2203	4300	6503	SO:0001583	missense	204851			AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.32C>T	1.37:g.114483037C>T	ENSP00000358571:p.Pro11Leu		A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Missense_Mutation	SNP	ENST00000369558.1	37	CCDS867.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.881132	0.33255	.	.	ENSG00000163349	ENST00000426820;ENST00000369559;ENST00000443627;ENST00000369554;ENST00000369555;ENST00000369558;ENST00000369561;ENST00000514621;ENST00000503968	T;T;T;T;T;T;T;T;T	0.48836	0.8;0.8;0.83;0.83;0.83;0.83;0.84;0.84;0.83	4.78	4.78	0.61160	.	0.090347	0.48286	D	0.000197	T	0.26882	0.0658	L	0.32530	0.975	0.80722	D	1	B;B	0.30281	0.18;0.275	B;B	0.27796	0.038;0.083	T	0.20273	-1.0280	10	0.56958	D	0.05	.	17.834	0.88691	0.0:1.0:0.0:0.0	.	11;11	Q86Z02;Q86Z02-2	HIPK1_HUMAN;.	L	82;11;11;11;11;11;11;11;11	ENSP00000407442:P82L;ENSP00000358572:P11L;ENSP00000409673:P11L;ENSP00000358567:P11L;ENSP00000358568:P11L;ENSP00000358571:P11L;ENSP00000358574:P11L;ENSP00000422322:P11L;ENSP00000426695:P11L	ENSP00000358567:P11L	P	+	2	0	HIPK1	114284560	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.224000	0.42945	2.182000	0.69389	0.650000	0.86243	CCA		0.433	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	NM_198268		T	114483037	C	T	114483037	3	4	738	1	0	0	0	0	1	0	0	0	7118	594	21	2	34	2	HIPK1	1	114483037	Missense_Mutation	SNP	C	TCGA-KN-8432-01A-11D-2310-10	48380759	114483037	134767584	5	42787											
ANP32E	81611	mdanderson.org	37	1	150199057	150199057	+	Silent	SNP	C	C	T			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr1:150199057C>T	ENST00000314136.8	-	5	933	c.564G>A	c.(562-564)gaG>gaA	p.E188E	ANP32E_ENST00000369114.5_Intron|ANP32E_ENST00000436748.2_Silent_p.E147E|ANP32E_ENST00000369119.3_Silent_p.E140E|ANP32E_ENST00000369116.4_Silent_p.E56E|ANP32E_ENST00000533654.1_Missense_Mutation_p.R133K|ANP32E_ENST00000369115.2_Silent_p.E56E	NM_001136478.2|NM_001280559.1|NM_030920.3	NP_001129950.1|NP_001267488.1|NP_112182.1	Q9BTT0	AN32E_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member E	188	Asp/Glu-rich (highly acidic).				histone exchange (GO:0043486)|negative regulation of catalytic activity (GO:0043086)	cytoplasmic membrane-bounded vesicle (GO:0016023)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	histone binding (GO:0042393)|phosphatase inhibitor activity (GO:0019212)			breast(3)|endometrium(3)|lung(7)|skin(1)|urinary_tract(1)	15	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)			cctcttcctcctcctcttcct	0.438																																																0													238	207	217					1																	150199057		2203	4300	6503	SO:0001819	synonymous_variant	81611			AK092672	CCDS946.1, CCDS44214.1, CCDS44215.1, CCDS60245.1	1q22	2008-02-05			ENSG00000143401	ENSG00000143401		"ANP32 acidic nuclear phosphoproteins"	16673	protein-coding gene	gene with protein product		609611				12438741	Standard	NM_030920		Approved	LANPL, MGC5350, LANP-L	uc001etw.3	Q9BTT0	OTTHUMG00000012547	ENST00000314136.8:c.564G>A	1.37:g.150199057C>T			B4E0I6|E9PEA6|Q5TB18|Q5TB20|Q8N1S4|Q8WWW9	Silent	SNP	ENST00000314136.8	37	CCDS946.1	.	.	.	.	.	.	.	.	.	.	C	2.195	-0.384257	0.04966	.	.	ENSG00000143401	ENST00000533654	T	0.00282	8.31	5.31	-2.29	0.06805	.	.	.	.	.	T	0.00039	0.0001	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.02385	-1.1167	8	0.28530	T	0.3	.	0.7934	0.01061	0.2726:0.2404:0.1094:0.3777	.	133	E9PLC4	.	K	133	ENSP00000435215:R133K	ENSP00000435215:R133K	R	-	2	0	ANP32E	148465681	0.560000	0.26570	0.552000	0.28243	0.061000	0.15899	-0.914000	0.04038	-0.093000	0.12396	0.561000	0.74099	AGG		0.438	ANP32E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035056.1	NM_030920		T	150199057	C	T	150199057	2	4	738	1	0	0	0	0	0	0	0	1	709	680	24	2		2	ANP32E	1	150199057	Silent	SNP	C	TCGA-KN-8432-01A-11D-2310-10	35716020	150199057	99051564	6	42788											
FLAD1	80308	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	154965424	154965424	+	Missense_Mutation	SNP	C	C	G			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr1:154965424C>G	ENST00000292180.3	+	7	1997	c.1675C>G	c.(1675-1677)Ctg>Gtg	p.L559V	FLAD1_ENST00000368432.1_3'UTR|FLAD1_ENST00000315144.10_Missense_Mutation_p.L462V|FLAD1_ENST00000368428.1_Missense_Mutation_p.L100V|LENEP_ENST00000392487.1_5'Flank|FLAD1_ENST00000295530.2_3'UTR|FLAD1_ENST00000405236.2_3'UTR	NM_025207.4	NP_079483.3	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	559					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)			GAACCCGGCCCTGAAGTGCCT	0.607																																																0													74	64	67					1																	154965424		2203	4300	6503	SO:0001583	missense	80308				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.1675C>G	1.37:g.154965424C>G	ENSP00000292180:p.Leu559Val		Q8N5J1|Q8N686|Q8WU93|Q8WUJ4|Q96CR8|Q99764|Q9HBN6	Missense_Mutation	SNP	ENST00000292180.3	37	CCDS1078.1	.	.	.	.	.	.	.	.	.	.	C	12.56	1.973492	0.34848	.	.	ENSG00000160688	ENST00000315144;ENST00000292180;ENST00000368428	.	.	.	5.2	2.23	0.28157	.	0.000000	0.64402	D	0.000001	T	0.76371	0.3978	M	0.91300	3.195	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81189	-0.1046	9	0.87932	D	0	-12.7998	12.1264	0.53919	0.0:0.7294:0.0:0.2706	.	559	Q8NFF5	FAD1_HUMAN	V	462;559;100	.	ENSP00000292180:L559V	L	+	1	2	FLAD1	153232048	1.000000	0.71417	0.991000	0.47740	0.030000	0.12068	3.914000	0.56401	0.380000	0.24823	-1.203000	0.01651	CTG		0.607	FLAD1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091089.1	NM_025207		G	154965424	C	G	154965424	3	3	738	1	0	0	0	0	1	0	0	0	5922	680	24	4	1845	4	FLAD1	1	154965424	Missense_Mutation	SNP	C	TCGA-KN-8432-01A-11D-2310-10	4766367	154965424	94285197	7	42789											
ARHGEF2	9181	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	1	155932493	155932493	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr1:155932493G>A	ENST00000361247.4	-	9	1091	c.992C>T	c.(991-993)gCg>gTg	p.A331V	ARHGEF2_ENST00000462460.2_Missense_Mutation_p.A376V|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.A330V|ARHGEF2_ENST00000368316.1_Missense_Mutation_p.A303V|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.A303V|ARHGEF2_ENST00000368315.4_Missense_Mutation_p.A332V|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	331	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				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)					CATCTGCTCCGCACTAGGACC	0.537																																					Melanoma(178;35 2768 6610 28839)											0													70	68	68					1																	155932493		2203	4300	6503	SO:0001583	missense	9181			AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	682	protein-coding gene	gene with protein product		607560	"rho/rac guanine nucleotide exchange factor (GEF) 2"			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.992C>T	1.37:g.155932493G>A	ENSP00000354837:p.Ala331Val		D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Missense_Mutation	SNP	ENST00000361247.4	37	CCDS53376.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.951615	0.73787	.	.	ENSG00000116584	ENST00000313695;ENST00000361247;ENST00000368315;ENST00000368316;ENST00000435736;ENST00000543433;ENST00000313667	T;T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4;-0.4	5.08	5.08	0.68730	Dbl homology (DH) domain (5);	0.000000	0.47852	D	0.000207	T	0.79131	0.4394	M	0.82056	2.57	0.53005	D	0.999967	D;D;P;D	0.76494	0.999;0.997;0.455;0.985	D;P;B;P	0.69142	0.962;0.875;0.151;0.71	T	0.81055	-0.1106	10	0.72032	D	0.01	-16.4095	16.3414	0.83083	0.0:0.0:1.0:0.0	.	376;375;331;330	B7Z977;D3DVA5;Q92974;Q92974-2	.;.;ARHG2_HUMAN;.	V	303;331;332;303;376;304;330	ENSP00000315325:A303V;ENSP00000354837:A331V;ENSP00000357298:A332V;ENSP00000357299:A303V;ENSP00000314787:A330V	ENSP00000314787:A330V	A	-	2	0	ARHGEF2	154199117	1.000000	0.71417	0.342000	0.25602	0.665000	0.39181	4.965000	0.63708	2.803000	0.96430	0.609000	0.83330	GCG		0.537	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046204.2	NM_004723		A	155932493	G	A	155932493	3	1	738	1	0	0	0	0	1	0	0	0	903	1087	38	1	2024	1	ARHGEF2	1	155932493	Missense_Mutation	SNP	G	TCGA-KN-8432-01A-11D-2310-10	967069	155932493	93318128	8	42790											
MR1	3140	mdanderson.org;bcgsc.ca	37	1	181021437	181021437	+	Missense_Mutation	SNP	C	C	A			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr1:181021437C>A	ENST00000367580.5	+	4	676	c.671C>A	c.(670-672)gCt>gAt	p.A224D	MR1_ENST00000438435.2_Intron|MR1_ENST00000367579.3_Missense_Mutation_p.A179D|MR1_ENST00000434571.2_Intron|MR1_ENST00000282990.6_Intron	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related	224	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	MHC class I receptor activity (GO:0032393)|peptide antigen binding (GO:0042605)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18					Antithymocyte globulin(DB00098)	TTCTGCAAAGCTCATGGCTTT	0.428																																					Colon(174;1412 1962 45296 46549 47110)											0													55	55	55					1																	181021437		2203	4300	6503	SO:0001583	missense	3140			AF010446	CCDS1342.1, CCDS53440.1, CCDS53441.1, CCDS53442.1	1q25.3	2013-01-11	2003-03-05	2003-03-07	ENSG00000153029	ENSG00000153029		"Immunoglobulin superfamily / C1-set domain containing"	4975	protein-coding gene	gene with protein product		600764	"major histocompatibility complex, class I-like sequence"	HLALS		7624800, 9784382	Standard	NM_001194999		Approved		uc001goq.2	Q95460	OTTHUMG00000035175	ENST00000367580.5:c.671C>A	1.37:g.181021437C>A	ENSP00000356552:p.Ala224Asp		A8K2V9|B4E3B1|O97985|O97986|Q53GM1|Q95HB8|Q9MY23|Q9NPL2|Q9TQB3|Q9TQB9|Q9TQK3	Missense_Mutation	SNP	ENST00000367580.5	37	CCDS1342.1	.	.	.	.	.	.	.	.	.	.	C	18.93	3.727807	0.69074	.	.	ENSG00000153029	ENST00000367580;ENST00000367579	T;T	0.21734	1.99;1.99	4.52	3.57	0.40892	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.116516	0.38326	N	0.001730	T	0.56499	0.1989	H	0.96833	3.89	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74023	0.982;0.981	T	0.66512	-0.5905	10	0.87932	D	0	.	9.5573	0.39346	0.0:0.8917:0.0:0.1083	.	179;224	Q95460-2;Q95460	.;HMR1_HUMAN	D	224;179	ENSP00000356552:A224D;ENSP00000356551:A179D	ENSP00000356551:A179D	A	+	2	0	MR1	179288060	0.477000	0.25909	0.999000	0.59377	0.874000	0.50279	0.758000	0.26447	1.056000	0.40484	0.655000	0.94253	GCT		0.428	MR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085134.2	NM_001531		A	181021437	C	A	181021437	3	1	738	1	0	0	0	0	1	0	0	0	9754	797	28	4	685	4	MR1	1	181021437	Missense_Mutation	SNP	C	TCGA-KN-8432-01A-11D-2310-10	25088944	181021437	68229184	9	42791											
RGL1	23179	broad.mit.edu	37	1	183885724	183885724	+	Silent	SNP	G	G	A			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr1:183885724G>A	ENST00000360851.3	+	16	2071	c.1893G>A	c.(1891-1893)acG>acA	p.T631T	RGL1_ENST00000536277.1_Silent_p.T629T|RGL1_ENST00000539189.1_Silent_p.T602T|RGL1_ENST00000304685.4_Silent_p.T666T			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	631					cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						TCTCGGTGACGTCCATTACCT	0.498																																																0													197	180	186					1																	183885724		2203	4300	6503	SO:0001819	synonymous_variant	23179			AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000360851.3:c.1893G>A	1.37:g.183885724G>A			Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Silent	SNP	ENST00000360851.3	37																																																																																					0.498	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000085742.1	NM_015149		A	183885724	G	A	183885724	2	1	738	1	0	0	0	0	0	0	0	1	13282	1132	40	1		1	RGL1	1	183885724	Silent	SNP	G	TCGA-KN-8432-01A-11D-2310-10	2864287	183885724	65364897	10	42792											
KIF21B	23046	broad.mit.edu;mdanderson.org;bcgsc.ca	37	1	200943959	200943959	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr1:200943959G>A	ENST00000422435.2	-	34	5013	c.4697C>T	c.(4696-4698)gCg>gTg	p.A1566V	KIF21B_ENST00000332129.2_Missense_Mutation_p.A1553V|KIF21B_ENST00000461742.2_Missense_Mutation_p.A1566V|KIF21B_ENST00000360529.5_Missense_Mutation_p.A1553V	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	1566					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						GATGACACCCGCACGGCAGGC	0.607																																																0													195	172	180					1																	200943959		2203	4300	6503	SO:0001583	missense	23046			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.4697C>T	1.37:g.200943959G>A	ENSP00000411831:p.Ala1566Val		B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	ENST00000422435.2	37	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	G	16.20	3.056322	0.55325	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.59906	0.23;0.23;0.23;0.23	4.48	2.48	0.30137	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.211121	0.39146	N	0.001442	T	0.50905	0.1643	L	0.51422	1.61	0.29302	N	0.868603	P;P;P;P	0.49253	0.921;0.845;0.921;0.903	B;B;B;B	0.41135	0.348;0.348;0.348;0.236	T	0.56523	-0.7965	10	0.72032	D	0.01	.	13.2708	0.60159	0.0:0.6602:0.3398:0.0	.	1553;1566;1566;1553	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	V	1553;1553;1566;1566;1566	ENSP00000328494:A1553V;ENSP00000353724:A1553V;ENSP00000433808:A1566V;ENSP00000411831:A1566V	ENSP00000328494:A1553V	A	-	2	0	KIF21B	199210582	0.999000	0.42202	0.024000	0.17045	0.930000	0.56654	3.649000	0.54417	0.840000	0.34995	0.561000	0.74099	GCG		0.607	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		A	200943959	G	A	200943959	3	1	738	1	0	0	0	0	1	0	0	0	8291	1087	38	1	224	1	KIF21B	1	200943959	Missense_Mutation	SNP	G	TCGA-KN-8432-01A-11D-2310-10	17058235	200943959	48306662	11	42793											
SUSD4	55061	hgsc.bcm.edu;ucsc.edu	37	1	223465989	223465989	+	Silent	SNP	G	G	A			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr1:223465989G>A	ENST00000343846.3	-	2	786	c.153C>T	c.(151-153)ttC>ttT	p.F51F	SUSD4_ENST00000366878.4_Silent_p.F51F|SUSD4_ENST00000484758.2_Intron|SUSD4_ENST00000454695.2_5'UTR|SUSD4_ENST00000344029.6_Silent_p.F51F|SUSD4_ENST00000494793.2_Silent_p.F51F|SUSD4_ENST00000478605.1_5'UTR			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	51						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)		GAAGGTCATCGAACCCTACAT	0.502																																																0													48	53	52					1																	223465989		2203	4300	6503	SO:0001819	synonymous_variant	55061			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.153C>T	1.37:g.223465989G>A			D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Silent	SNP	ENST00000343846.3	37	CCDS41471.1																																																																																				0.502	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092592.2	NM_017982		A	223465989	G	A	223465989	2	1	738	1	0	0	0	0	0	0	0	1	15415	1049	37	1		1	SUSD4	1	223465989	Silent	SNP	G	TCGA-KN-8432-01A-11D-2310-10	22522030	223465989	25784632	12	42794											
CAPN2	824	broad.mit.edu	37	1	223936794	223936794	+	Silent	SNP	G	G	C			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr1:223936794G>C	ENST00000295006.5	+	6	1092	c.783G>C	c.(781-783)ggG>ggC	p.G261G	CAPN2_ENST00000433674.2_Silent_p.G183G	NM_001748.4	NP_001739	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	261	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				blastocyst development (GO:0001824)|cellular response to amino acid stimulus (GO:0071230)|myoblast fusion (GO:0007520)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of cytoskeleton organization (GO:0051493)|response to hypoxia (GO:0001666)	chromatin (GO:0000785)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|cytoskeletal protein binding (GO:0008092)			breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		TGGTGAAGGGGCACGCGTACT	0.647											OREG0014276	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													62	55	57					1																	223936794		2203	4300	6503	SO:0001819	synonymous_variant	824			J04700	CCDS31035.1, CCDS53478.1	1q41-q42	2013-01-10			ENSG00000162909	ENSG00000162909	3.4.22.52	"EF-hand domain containing"	1479	protein-coding gene	gene with protein product		114230				2852952, 2539381	Standard	NM_001748		Approved	mCANP, CANPml, CANPL2	uc001hob.4	P17655	OTTHUMG00000037376	ENST00000295006.5:c.783G>C	1.37:g.223936794G>C		2293	A6NDG7|B7ZA96|E7ES58|Q16738|Q6PJT3|Q8WU26|Q9HBB1	Silent	SNP	ENST00000295006.5	37	CCDS31035.1																																																																																				0.647	CAPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090973.1	NM_001748		C	223936794	G	C	223936794	2	2	738	1	0	0	0	0	0	0	0	1	2629	1190	42	4		4	CAPN2	1	223936794	Silent	SNP	G	TCGA-KN-8432-01A-11D-2310-10	470805	223936794	25313827	13	42795											
OBSCN	84033	broad.mit.edu	37	1	228432096	228432096	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr1:228432096delA	ENST00000422127.1	+	11	3349	c.3305delA	c.(3304-3306)cagfs	p.Q1102fs	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Frame_Shift_Del_p.Q1102fs|OBSCN_ENST00000570156.2_Frame_Shift_Del_p.Q1194fs	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1102	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)				GCCCAGGCCCAGACGGAGGTG	0.597																																																0													85	82	83					1																	228432096		2033	4172	6205	SO:0001589	frameshift_variant	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.3305delA	1.37:g.228432096delA	ENSP00000409493:p.Gln1102fs		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Frame_Shift_Del	DEL	ENST00000422127.1	37	CCDS58065.1																																																																																				0.597	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		-	228432096	A	-	228432096	7	5	738	1	0	1	0	1	0	0	0	0	10814	188	7	0	3343	0	OBSCN	1	228432096	Frame_Shift_Del	DEL	A	TCGA-KN-8432-01A-11D-2310-10	4495302	228432096	20818525	14	42796											
HNRNPU	3192	broad.mit.edu	37	1	245025801	245025803	+	In_Frame_Del	DEL	TCT	TCT	-	rs538951206		TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	TCT	TCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr1:245025801_245025803delTCT	ENST00000283179.9	-	3	1000_1002	c.837_839delAGA	c.(835-840)gaagat>gat	p.E279del	HNRNPU_ENST00000444376.2_In_Frame_Del_p.E260del|RP11-11N7.4_ENST00000610145.1_lincRNA			Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	279	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasmic ribonucleoprotein granule (GO:0036464)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			GAAGTGTTCATCTTCTTCTTCAA	0.394																																					NSCLC(33;911 1010 3329 23631 49995)											0																																										SO:0001651	inframe_deletion	3192			X65488	CCDS31081.1, CCDS41479.1	1q44	2011-10-24		2007-08-16	ENSG00000153187	ENSG00000153187			5048	protein-coding gene	gene with protein product		602869		HNRPU		7509195, 8068679	Standard	NM_031844		Approved	SAF-A, hnRNPU	uc001iaz.1	Q00839	OTTHUMG00000040396	ENST00000283179.9:c.837_839delAGA	1.37:g.245025807_245025809delTCT	ENSP00000283179:p.Glu279del		O75507|Q8N174|Q96HY9|Q9BQ09	In_Frame_Del	DEL	ENST00000283179.9	37	CCDS41479.1																																																																																				0.394	HNRNPU-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097163.3	NM_031844		-	245025803	TCT	-	245025801	7	5	738	1	0	1	0	1	0	0	0	0	7275	1435	50	0	1686	0	HNRNPU	1	245025801	In_Frame_Del	DEL	TCT	TCGA-KN-8432-01A-11D-2310-10	16593705	245025801	4224820	15	42797											
CNST	163882	broad.mit.edu	37	1	246811292	246811292	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr1:246811292A>G	ENST00000366513.4	+	9	2058	c.1789A>G	c.(1789-1791)Agc>Ggc	p.S597G	CNST_ENST00000366512.3_Missense_Mutation_p.S597G|CNST_ENST00000483271.1_3'UTR	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	597					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						TTCTGATGAGAGCTGTCTTTC	0.388																																																0													83	87	86					1																	246811292		2203	4300	6503	SO:0001583	missense	163882			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.1789A>G	1.37:g.246811292A>G	ENSP00000355470:p.Ser597Gly		Q5VSY9|Q5VTM7|Q8IYA9|Q8N3L5|Q8NB09|Q8TEI2|Q96MR5	Missense_Mutation	SNP	ENST00000366513.4	37	CCDS1628.1	.	.	.	.	.	.	.	.	.	.	A	16.18	3.051141	0.55218	.	.	ENSG00000162852	ENST00000366513;ENST00000366512	T;T	0.25912	2.05;1.77	5.62	1.8	0.24995	.	0.454768	0.26082	N	0.026447	T	0.26159	0.0638	M	0.77103	2.36	0.09310	N	0.999997	B;B	0.27997	0.096;0.197	B;B	0.25614	0.039;0.062	T	0.26087	-1.0113	10	0.72032	D	0.01	-27.1833	5.9865	0.19436	0.7426:0.0:0.1354:0.1219	.	597;597	Q6PJW8;Q6PJW8-2	CNST_HUMAN;.	G	597	ENSP00000355470:S597G;ENSP00000355469:S597G	ENSP00000355469:S597G	S	+	1	0	CNST	244877915	0.974000	0.33945	0.007000	0.13788	0.744000	0.42396	2.531000	0.45650	0.498000	0.27948	0.383000	0.25322	AGC		0.388	CNST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096780.1	NM_152609		G	246811292	A	G	246811292	3	3	738	1	0	0	0	0	1	0	0	0	3636	304	11	3	1819	3	CNST	1	246811292	Missense_Mutation	SNP	A	TCGA-KN-8432-01A-11D-2310-10	1785491	246811292	2439329	16	42798											
CAPN13	92291	ucsc.edu;bcgsc.ca	37	2	30953639	30953639	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr2:30953639A>G	ENST00000295055.8	-	22	2173	c.1997T>C	c.(1996-1998)gTc>gCc	p.V666A	CAPN13_ENST00000534090.2_Missense_Mutation_p.V666A	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	666	EF-hand 2.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					GTTGTACATGACCAGGCTCAT	0.478																																																0													129	129	129					2																	30953639		1977	4150	6127	SO:0001583	missense	92291				CCDS46252.1	2p22-p21	2008-02-05			ENSG00000162949	ENSG00000162949			16663	protein-coding gene	gene with protein product		610228				11675017	Standard	NM_144575		Approved	FLJ23523	uc021vfm.1	Q6MZZ7	OTTHUMG00000152053	ENST00000295055.8:c.1997T>C	2.37:g.30953639A>G	ENSP00000295055:p.Val666Ala		Q17RF0|Q580X1|Q8TE80	Missense_Mutation	SNP	ENST00000295055.8	37	CCDS46252.1	.	.	.	.	.	.	.	.	.	.	A	14.50	2.554372	0.45487	.	.	ENSG00000162949	ENST00000295055;ENST00000534090	T;T	0.31769	1.48;1.48	4.79	2.48	0.30137	EF-hand-like domain (1);	0.654613	0.16302	N	0.220413	T	0.19167	0.0460	L	0.29908	0.895	0.32415	N	0.550165	P	0.50710	0.938	B	0.40329	0.326	T	0.25082	-1.0142	10	0.56958	D	0.05	.	5.5473	0.17071	0.7872:0.0:0.2128:0.0	.	666	Q6MZZ7	CAN13_HUMAN	A	666	ENSP00000295055:V666A;ENSP00000431298:V666A	ENSP00000295055:V666A	V	-	2	0	CAPN13	30807143	1.000000	0.71417	1.000000	0.80357	0.495000	0.33615	1.684000	0.37649	0.940000	0.37473	0.533000	0.62120	GTC		0.478	CAPN13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325101.2	NM_144575		G	30953639	A	G	30953639	3	3	738	1	0	0	0	0	1	0	0	0	2628	275	10	3	16	3	CAPN13	2	30953639	Missense_Mutation	SNP	A	TCGA-KN-8432-01A-11D-2310-10		30953639	212245734	17	42799											
XDH	7498	broad.mit.edu	37	2	31590910	31590910	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr2:31590910T>C	ENST00000379416.3	-	20	2162	c.2114A>G	c.(2113-2115)aAc>aGc	p.N705S		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	705					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)	AAAGGAGTTGTTCTTTATAGC	0.438																																					Colon(66;682 1445 30109 40147)											0													157	148	151					2																	31590910		2203	4300	6503	SO:0001583	missense	7498			D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"xanthene dehydrogenase"			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.2114A>G	2.37:g.31590910T>C	ENSP00000368727:p.Asn705Ser		Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	37	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	T	15.87	2.961610	0.53400	.	.	ENSG00000158125	ENST00000379416	T	0.38077	1.16	6.02	6.02	0.97574	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.371642	0.33457	N	0.004886	T	0.31575	0.0801	L	0.28556	0.865	0.34950	D	0.751198	B	0.22080	0.064	B	0.27170	0.077	T	0.39761	-0.9598	10	0.59425	D	0.04	.	14.4967	0.67694	0.0:0.0:0.0:1.0	.	705	P47989	XDH_HUMAN	S	705	ENSP00000368727:N705S	ENSP00000368727:N705S	N	-	2	0	XDH	31444414	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.093000	0.50217	2.311000	0.77944	0.533000	0.62120	AAC		0.438	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		C	31590910	T	C	31590910	3	2	738	1	0	0	0	0	1	0	0	0	17431	1725	60	3	1955	3	XDH	2	31590910	Missense_Mutation	SNP	T	TCGA-KN-8432-01A-11D-2310-10	637271	31590910	211608463	18	42800											
HNRPLL	92906	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	38818735	38818735	+	Missense_Mutation	SNP	C	C	A			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr2:38818735C>A	ENST00000449105.3	-	2	584	c.245G>T	c.(244-246)gGa>gTa	p.G82V	HNRNPLL_ENST00000358367.4_Missense_Mutation_p.G82V|HNRNPLL_ENST00000378915.3_Missense_Mutation_p.G82V|HNRNPLL_ENST00000409636.1_Missense_Mutation_p.G77V|HNRNPLL_ENST00000608859.1_Missense_Mutation_p.G82V|HNRNPLL_ENST00000409328.1_Missense_Mutation_p.G82V|HNRNPLL_ENST00000410076.1_Missense_Mutation_p.G77V|HNRNPLL_ENST00000498516.1_5'UTR			Q8WVV9	HNRLL_HUMAN	heterogeneous nuclear ribonucleoprotein L-like	82	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|positive regulation of RNA splicing (GO:0033120)	membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)										TTCACAGAGTCCTCGAACATG	0.403																																																0													125	120	122					2																	38818735		2203	4300	6503	SO:0001583	missense	92906			BC008217	CCDS46261.1, CCDS1796.2	2p22	2014-02-10		2013-06-12	ENSG00000143889	ENSG00000143889		"RNA binding motif (RRM) containing"	25127	protein-coding gene	gene with protein product		611208		HNRPLL		18669861	Standard	NM_138394		Approved		uc021vgc.1	Q8WVV9	OTTHUMG00000102075	ENST00000449105.3:c.245G>T	2.37:g.38818735C>A	ENSP00000390625:p.Gly82Val		Q53T80|Q5JB51|Q5JB52|Q659B9|Q8IVH5|Q8IVH6|Q96HR5	Missense_Mutation	SNP	ENST00000449105.3	37		.	.	.	.	.	.	.	.	.	.	C	34	5.354370	0.95830	.	.	ENSG00000143889	ENST00000449105;ENST00000409636;ENST00000378915;ENST00000409328;ENST00000358367;ENST00000410076;ENST00000425682	T;T;T;T;T;T;T	0.12361	2.69;2.69;2.69;2.69;2.69;2.69;2.69	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.48926	0.1527	M	0.89715	3.055	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.56153	-0.8026	10	0.87932	D	0	.	20.1992	0.98252	0.0:1.0:0.0:0.0	.	77;82	C9J9G0;D6W592	.;.	V	82;77;82;82;82;77;21	ENSP00000390625:G82V;ENSP00000387088:G77V;ENSP00000368195:G82V;ENSP00000386575:G82V;ENSP00000351136:G82V;ENSP00000386695:G77V;ENSP00000396669:G21V	ENSP00000351136:G82V	G	-	2	0	HNRPLL	38672239	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.515000	0.81761	2.775000	0.95449	0.650000	0.86243	GGA		0.403	HNRNPLL-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000219887.2	NM_138394		A	38818735	C	A	38818735	3	1	738	1	0	0	0	0	1	0	0	0	7279	855	30	4	1431	4	HNRPLL	2	38818735	Missense_Mutation	SNP	C	TCGA-KN-8432-01A-11D-2310-10	7227825	38818735	204380638	19	42801											
SFRS7	6432	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	38978394	38978394	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr2:38978394G>A	ENST00000313117.6	-	1	242	c.5C>T	c.(4-6)tCg>tTg	p.S2L	SRSF7_ENST00000409276.1_Missense_Mutation_p.S2L|SRSF7_ENST00000446327.2_Missense_Mutation_p.S2L|GEMIN6_ENST00000409011.1_5'Flank	NM_001031684.2|NM_001195446.1	NP_001026854.1|NP_001182375.1	Q16629	SRSF7_HUMAN	serine/arginine-rich splicing factor 7	2					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)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CCCGTAACGCGACATGATGAC	0.627																																																0													188	146	160					2																	38978394		2203	4300	6503	SO:0001583	missense	6432			L41887	CCDS33183.1, CCDS56115.1	2p22.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000115875	ENSG00000115875		"Zinc fingers, CCHC domain containing", "Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10789	protein-coding gene	gene with protein product	"SR splicing factor 7"	600572	"splicing factor, arginine/serine-rich 7 (35kD)", "splicing factor, arginine/serine-rich 7, 35kDa"	SFRS7		8013463, 20516191	Standard	NM_001031684		Approved	9G8, ZCRB2, HSSG1, AAG3, RBM37, ZCCHC20	uc002rqz.3	Q16629	OTTHUMG00000102076	ENST00000313117.6:c.5C>T	2.37:g.38978394G>A	ENSP00000325905:p.Ser2Leu		B4DLU6|G5E9M3|Q564D3	Missense_Mutation	SNP	ENST00000313117.6	37	CCDS33183.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.846108	0.91277	.	.	ENSG00000115875	ENST00000313117;ENST00000446327;ENST00000409276	T;T;T	0.26957	1.77;1.7;2.38	4.98	4.98	0.66077	.	0.610527	0.14490	N	0.316430	T	0.47002	0.1422	M	0.82323	2.585	0.80722	D	1	P;P	0.51449	0.945;0.909	P;B	0.50314	0.637;0.434	T	0.54510	-0.8283	10	0.72032	D	0.01	.	17.4054	0.87472	0.0:0.0:1.0:0.0	.	2;2	G5E9M3;Q16629	.;SRSF7_HUMAN	L	2	ENSP00000325905:S2L;ENSP00000402264:S2L;ENSP00000386806:S2L	ENSP00000325905:S2L	S	-	2	0	SRSF7	38831898	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	6.372000	0.73123	2.574000	0.86865	0.561000	0.74099	TCG		0.627	SRSF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219889.2	NM_001031684		A	38978394	G	A	38978394	3	1	738	1	0	0	0	0	1	0	0	0	14188	1059	37	1	743	1	SFRS7	2	38978394	Missense_Mutation	SNP	G	TCGA-KN-8432-01A-11D-2310-10	159659	38978394	204220979	20	42802											
TUBA3D	113457	mdanderson.org	37	2	132236921	132236921	+	Silent	SNP	G	G	A	rs4065352	byFrequency	TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr2:132236921G>A	ENST00000321253.6	+	3	374	c.267G>A	c.(265-267)ccG>ccA	p.P89P	TUBA3D_ENST00000409047.2_3'UTR	NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	89					'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)		TCTTCCACCCGGAGCAGCTGA	0.532																																					Ovarian(137;2059 2432 35543 39401)											0													137	125	129					2																	132236921		2203	4300	6503	SO:0001819	synonymous_variant	113457			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.267G>A	2.37:g.132236921G>A			A6NJQ0|Q5W099|Q6PEY3|Q96F18	Silent	SNP	ENST00000321253.6	37	CCDS33290.1																																																																																				0.532	TUBA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331800.2	NM_080386		A	132236921	G	A	132236921	2	1	738	1	0	0	0	0	0	0	0	1	16752	1103	39	1		1	TUBA3D	2	132236921	Silent	SNP	G	TCGA-KN-8432-01A-11D-2310-10	93258527	132236921	110962452	21	42803											
MCM6	4175	broad.mit.edu	37	2	136614368	136614368	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr2:136614368T>C	ENST00000264156.2	-	11	1616	c.1556A>G	c.(1555-1557)aAt>aGt	p.N519S	MCM6_ENST00000492091.1_Intron	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	519	MCM.				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)		CAAATTTATATTCTGTTTCAA	0.423																																					Ovarian(196;141 2104 8848 24991 25939)											0													133	127	129					2																	136614368		2203	4300	6503	SO:0001583	missense	4175				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.1556A>G	2.37:g.136614368T>C	ENSP00000264156:p.Asn519Ser		B2R6H2|Q13504|Q99859	Missense_Mutation	SNP	ENST00000264156.2	37	CCDS2179.1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.742623	0.89573	.	.	ENSG00000076003	ENST00000264156	T	0.09255	3.0	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.48892	0.1525	H	0.97103	3.94	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67268	-0.5713	10	0.87932	D	0	-24.3423	15.8953	0.79329	0.0:0.0:0.0:1.0	.	519	Q14566	MCM6_HUMAN	S	519	ENSP00000264156:N519S	ENSP00000264156:N519S	N	-	2	0	MCM6	136330838	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.902000	0.87389	2.158000	0.67659	0.482000	0.46254	AAT		0.423	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	NM_005915		C	136614368	T	C	136614368	3	2	738	1	0	0	0	0	1	0	0	0	9393	1493	52	3	937	3	MCM6	2	136614368	Missense_Mutation	SNP	T	TCGA-KN-8432-01A-11D-2310-10	4377447	136614368	106585005	22	42804											
LRP2	4036	broad.mit.edu	37	2	169999257	169999257	+	Silent	SNP	T	T	C			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr2:169999257T>C	ENST00000263816.3	-	71	13320	c.13035A>G	c.(13033-13035)agA>agG	p.R4345R		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4345	EGF-like 16. {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)"	ATCCTCCAGGTCTCAGAAGGC	0.537																																																0													109	104	105					2																	169999257		2203	4300	6503	SO:0001819	synonymous_variant	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.13035A>G	2.37:g.169999257T>C			O00711|Q16215	Silent	SNP	ENST00000263816.3	37	CCDS2232.1																																																																																				0.537	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		C	169999257	T	C	169999257	2	2	738	1	0	0	0	0	0	0	0	1	8958	1664	58	3		3	LRP2	2	169999257	Silent	SNP	T	TCGA-KN-8432-01A-11D-2310-10	33384889	169999257	73200116	23	42805											
ZNF142	7701	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	219513452	219513452	+	Missense_Mutation	SNP	C	C	G			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr2:219513452C>G	ENST00000449707.1	-	6	1600	c.1179G>C	c.(1177-1179)aaG>aaC	p.K393N	ZNF142_ENST00000411696.2_Missense_Mutation_p.K393N	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	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)			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)		gagcaTGCATCTTGCCTACAT	0.542											OREG0015202	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(170;867 1942 8995 15834 18053)											0													96	90	92					2																	219513452		2076	4224	6300	SO:0001583	missense	7701			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.1179G>C	2.37:g.219513452C>G	ENSP00000408643:p.Lys393Asn	2259	Q92510	Missense_Mutation	SNP	ENST00000449707.1	37	CCDS42817.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.118889	0.56505	.	.	ENSG00000115568	ENST00000449707;ENST00000411696	T;T	0.14144	2.53;2.53	5.87	4.99	0.66335	Zinc finger, C2H2-like (1);	0.091759	0.85682	D	0.000000	T	0.31544	0.0800	M	0.72894	2.215	0.41280	D	0.986901	D;P	0.54964	0.969;0.955	P;P	0.57468	0.711;0.821	T	0.01162	-1.1432	10	0.72032	D	0.01	-6.4339	14.7909	0.69841	0.0:0.9311:0.0:0.0689	.	393;230	P52746;A8MWU9	ZN142_HUMAN;.	N	393	ENSP00000408643:K393N;ENSP00000398798:K393N	ENSP00000398798:K393N	K	-	3	2	ZNF142	219221696	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.872000	0.48467	2.941000	0.99782	0.655000	0.94253	AAG		0.542	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	NM_005081		G	219513452	C	G	219513452	3	3	738	1	0	0	0	0	1	0	0	0	17736	912	32	4	3904	4	ZNF142	2	219513452	Missense_Mutation	SNP	C	TCGA-KN-8432-01A-11D-2310-10	49514195	219513452	23685921	24	42806											
OBSL1	23363	broad.mit.edu	37	2	220432822	220432822	+	Missense_Mutation	SNP	C	C	T	rs2292359		TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr2:220432822C>T	ENST00000404537.1	-	2	1293	c.1237G>A	c.(1237-1239)Gag>Aag	p.E413K	OBSL1_ENST00000289656.3_5'UTR|OBSL1_ENST00000603926.1_Missense_Mutation_p.E413K|OBSL1_ENST00000491370.1_5'Flank|OBSL1_ENST00000265318.4_Missense_Mutation_p.E413K|OBSL1_ENST00000373876.1_Missense_Mutation_p.E413K|OBSL1_ENST00000373873.4_Missense_Mutation_p.E413K	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	413	Ig-like 4.				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)		CCCCGCATCTCGCACAGGTAG	0.637											OREG0003988	type=REGULATORY REGION|Gene=OBSL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																				0													71	78	76					2																	220432822		2129	4236	6365	SO:0001583	missense	23363			BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.1237G>A	2.37:g.220432822C>T	ENSP00000385636:p.Glu413Lys	2266	A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	ENST00000404537.1	37	CCDS46520.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.389568	0.82902	.	.	ENSG00000124006	ENST00000265318;ENST00000404537;ENST00000373876;ENST00000373873	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	5.17	5.17	0.71159	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.75860	0.3907	M	0.65677	2.01	0.49483	D	0.999798	D;D	0.89917	1.0;0.998	D;P	0.87578	0.998;0.85	T	0.73072	-0.4098	9	0.33141	T	0.24	.	14.4333	0.67266	0.0:0.7489:0.2511:0.0	rs2292359	413;413	O75147;O75147-2	OBSL1_HUMAN;.	K	413	ENSP00000265318:E413K;ENSP00000385636:E413K;ENSP00000362983:E413K;ENSP00000362980:E413K	ENSP00000265318:E413K	E	-	1	0	OBSL1	220141066	0.999000	0.42202	1.000000	0.80357	0.893000	0.52053	3.913000	0.56394	2.694000	0.91930	0.650000	0.86243	GAG		0.637	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1			T	220432822	C	T	220432822	3	4	738	1	0	0	0	0	1	0	0	0	10815	893	31	1	4685	1	OBSL1	2	220432822	Missense_Mutation	SNP	C	TCGA-KN-8432-01A-11D-2310-10	919370	220432822	22766551	25	42807											
ITM2C	81618	bcgsc.ca	37	2	231741668	231741668	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr2:231741668C>T	ENST00000326427.6	+	4	673	c.547C>T	c.(547-549)Ctc>Ttc	p.L183F	ITM2C_ENST00000335005.6_Missense_Mutation_p.L136F|ITM2C_ENST00000409704.2_Missense_Mutation_p.L121F|ITM2C_ENST00000492029.1_3'UTR|ITM2C_ENST00000326407.6_Intron	NM_030926.4	NP_112188.1	Q9NQX7	ITM2C_HUMAN	integral membrane protein 2C	183	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.				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)		CTGGGAGCTCCTCATGAACGT	0.577																																																0													107	105	106					2																	231741668		2203	4300	6503	SO:0001583	missense	81618			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.547C>T	2.37:g.231741668C>T	ENSP00000322730:p.Leu183Phe		B3KPG4|Q4G0A8|Q53H84|Q6IAE7|Q86VK5|Q8N288|Q8TAW0|Q9BUP8	Missense_Mutation	SNP	ENST00000326427.6	37	CCDS2479.1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.838631	0.71373	.	.	ENSG00000135916	ENST00000541852;ENST00000326427;ENST00000335005;ENST00000543957;ENST00000409704;ENST00000418408	T;T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27;-1.27	5.8	5.8	0.92144	BRICHOS (2);	0.000000	0.85682	D	0.000000	D	0.84642	0.5517	L	0.49513	1.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	T	0.83072	-0.0142	9	.	.	.	-27.6121	15.5632	0.76266	0.0:1.0:0.0:0.0	.	136;183	Q9NQX7-2;Q9NQX7	.;ITM2C_HUMAN	F	121;183;136;121;121;121	ENSP00000440295:L121F;ENSP00000322730:L183F;ENSP00000335121:L136F;ENSP00000444899:L121F;ENSP00000387242:L121F;ENSP00000403257:L121F	.	L	+	1	0	ITM2C	231449912	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	2.967000	0.49216	2.735000	0.93741	0.655000	0.94253	CTC		0.577	ITM2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256954.2	NM_030926		T	231741668	C	T	231741668	3	4	738	1	0	0	0	0	1	0	0	0	7916	681	24	2	561	2	ITM2C	2	231741668	Missense_Mutation	SNP	C	TCGA-KN-8432-01A-11D-2310-10	11308846	231741668	11457705	26	42808											
ALPPL2	251	hgsc.bcm.edu;mdanderson.org	37	2	233274094	233274094	+	Silent	SNP	C	C	T	rs563231782	byFrequency	TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr2:233274094C>T	ENST00000295453.3	+	10	1288	c.1236C>T	c.(1234-1236)taC>taT	p.Y412Y		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	412					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)	TCCTCCTATACGGAAACGGTC	0.662													c|||	2	0.000399361	0.0	0.0029	5008	,	,		12898	0.0		0.0	False		,,,				2504	0.0															0													14	12	13					2																	233274094		2132	4175	6307	SO:0001819	synonymous_variant	251			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.1236C>T	2.37:g.233274094C>T			A8KAF2|Q16727|Q53S81|Q96CM1	Silent	SNP	ENST00000295453.3	37	CCDS2491.1																																																																																				0.662	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257034.2	NM_031313		T	233274094	C	T	233274094	2	4	738	1	0	0	0	0	0	0	0	1	549	547	19	1		1	ALPPL2	2	233274094	Silent	SNP	C	TCGA-KN-8432-01A-11D-2310-10	1532426	233274094	9925279	27	42809											
UGT1A1	54658	bcgsc.ca	37	2	234669525	234669542	+	In_Frame_Del	DEL	CTCCTCTCATTCAGATCA	CTCCTCTCATTCAGATCA	-	rs199675631|rs550460320		TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	CTCCTCTCATTCAGATCA	CTCCTCTCATTCAGATCA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr2:234669525_234669542delCTCCTCTCATTCAGATCA	ENST00000608383.1	+	1	592_609	c.592_609delCTCCTCTCATTCAGATCA	c.(592-609)ctcctctcattcagatcadel	p.LLSFRS198del	UGT1A1_ENST00000609767.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000360418.3_In_Frame_Del_p.LLSFRS198del|UGT1A3_ENST00000482026.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A8_ENST00000305208.5_In_Frame_Del_p.LLSFRS198del|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000373450.4_Intron			P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	198					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)	CAGGCCTCTCTCCTCTCATTCAGATCACATGACCTTCC	0.523																																																0																																										SO:0001651	inframe_deletion	54658			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	ENST00000608383.1:c.592_609delCTCCTCTCATTCAGATCA	2.37:g.234669525_234669542delCTCCTCTCATTCAGATCA	ENSP00000476741:p.Leu198_Ser203del		A6NJC3|B8K286	In_Frame_Del	DEL	ENST00000608383.1	37	CCDS2510.1																																																																																				0.523	UGT1A1-203	KNOWN	basic|CCDS	protein_coding	protein_coding				-	234669542	CTCCTCTCATTCAGATCA	-	234669525	7	5	738	1	0	1	0	1	0	0	0	0	16949	1551	54	0	594	0	UGT1A1	2	234669525	In_Frame_Del	DEL	CTCCTCTCATTCAGATCA	TCGA-KN-8432-01A-11D-2310-10	1395431	234669525	8529848	28	42810											
C2orf85	285093	ucsc.edu;bcgsc.ca	37	2	242815181	242815181	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr2:242815181T>C	ENST00000343216.3	+	2	1502	c.1474T>C	c.(1474-1476)Tac>Cac	p.Y492H		NM_173821.2	NP_776182.2																					CCACGTTGCCTACGGCCCCCA	0.632																																																0													67	80	76					2																	242815181		2078	4195	6273	SO:0001583	missense	285093																														ENST00000343216.3:c.1474T>C	2.37:g.242815181T>C	ENSP00000345374:p.Tyr492His			Missense_Mutation	SNP	ENST00000343216.3	37	CCDS42843.1	.	.	.	.	.	.	.	.	.	.	.	10.51	1.369156	0.24771	.	.	ENSG00000188011	ENST00000343216	T	0.24151	1.87	1.96	-0.631	0.11526	.	.	.	.	.	T	0.08626	0.0214	N	0.08118	0	0.09310	N	1	P	0.46020	0.871	B	0.34242	0.178	T	0.19484	-1.0304	9	0.87932	D	0	-7.1084	1.7057	0.02881	0.5123:0.0:0.1891:0.2986	.	492	Q14D33	CB085_HUMAN	H	492	ENSP00000345374:Y492H	ENSP00000345374:Y492H	Y	+	1	0	C2orf85	242463854	0.000000	0.05858	0.000000	0.03702	0.688000	0.40055	-1.805000	0.01737	-0.153000	0.11137	0.165000	0.16767	TAC		0.632	CXXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322310.1			C	242815181	T	C	242815181	3	2	738	1	0	0	0	0	1	0	0	0	2202	1522	53	3	1480	3	C2orf85	2	242815181	Missense_Mutation	SNP	T	TCGA-KN-8432-01A-11D-2310-10	8145656	242815181	384192	29	42811											
VHL	7428	ucsc.edu;bcgsc.ca	37	3	10183608	10183608	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr3:10183608A>G	ENST00000256474.2	+	1	917	c.77A>G	c.(76-78)gAa>gGa	p.E26G	snoU13_ENST00000458986.1_RNA|VHL_ENST00000345392.2_Missense_Mutation_p.E26G	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	26	8 X 5 AA tandem repeats of G-[PAVG]-E-E- [DAYSLE].				cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|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)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.E26G(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TACGGCCCTGAAGAAGACGGC	0.731		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	1	Substitution - Missense(1)	kidney(1)											9	12	11					3																	10183608		1937	3843	5780	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.77A>G	3.37:g.10183608A>G	ENSP00000256474:p.Glu26Gly		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	A	14.31	2.495981	0.44352	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	D;D	0.85013	-1.93;-1.93	3.41	-0.726	0.11170	.	0.806388	0.09846	N	0.748190	T	0.69378	0.3104	N	0.14661	0.345	0.09310	N	1	B;B	0.11235	0.004;0.002	B;B	0.11329	0.006;0.003	T	0.57365	-0.7824	10	0.87932	D	0	-2.5634	3.318	0.07040	0.5484:0.2091:0.2425:0.0	.	26;26	P40337-2;P40337	.;VHL_HUMAN	G	26	ENSP00000256474:E26G;ENSP00000344757:E26G	ENSP00000256474:E26G	E	+	2	0	VHL	10158608	0.001000	0.12720	0.000000	0.03702	0.048000	0.14542	0.232000	0.17891	-0.217000	0.10033	-0.572000	0.04151	GAA		0.731	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		G	10183608	A	G	10183608	3	3	738	1	0	0	0	0	1	0	0	0	17167	246	9	3	79	3	VHL	3	10183608	Missense_Mutation	SNP	A	TCGA-KN-8432-01A-11D-2310-10		10183608	187838822	30	42812											
ABHD14A	25864	broad.mit.edu;mdanderson.org;bcgsc.ca	37	3	52014444	52014444	+	Missense_Mutation	SNP	A	A	C			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr3:52014444A>C	ENST00000273596.3	+	4	501	c.433A>C	c.(433-435)Aca>Cca	p.T145P	ACY1_ENST00000458031.2_Intron|ABHD14A_ENST00000491470.1_Intron|ABHD14B_ENST00000483233.1_Intron|ABHD14A-ACY1_ENST00000463937.1_Intron	NM_015407.4	NP_056222.2	Q9BUJ0	ABHEA_HUMAN	abhydrolase domain containing 14A	145						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GGAGGCAAGCACAGAGGCAGG	0.642																																																0													41	47	45					3																	52014444		2203	4300	6503	SO:0001583	missense	25864			AY358201	CCDS2843.1	3p21.1	2011-02-14			ENSG00000248487	ENSG00000248487		"Abhydrolase domain containing"	24538	protein-coding gene	gene with protein product							Standard	NM_015407		Approved	DKFZP564O243, DORZ1	uc003dco.3	Q9BUJ0	OTTHUMG00000157818	ENST00000273596.3:c.433A>C	3.37:g.52014444A>C	ENSP00000273596:p.Thr145Pro		Q6UXU8|Q9Y3T7	Missense_Mutation	SNP	ENST00000273596.3	37	CCDS2843.1	.	.	.	.	.	.	.	.	.	.	A	17.75	3.465322	0.63513	.	.	ENSG00000248487	ENST00000497864;ENST00000494478;ENST00000273596;ENST00000538216	T;T;T	0.34472	1.36;1.36;1.93	5.69	5.69	0.88448	.	.	.	.	.	T	0.35885	0.0947	L	0.56396	1.775	0.80722	D	1	B	0.16166	0.016	B	0.17433	0.018	T	0.11717	-1.0576	9	0.24483	T	0.36	.	14.1954	0.65667	1.0:0.0:0.0:0.0	.	145	Q9BUJ0	ABHEA_HUMAN	P	210;140;145;103	ENSP00000418242:T210P;ENSP00000420475:T140P;ENSP00000273596:T145P	ENSP00000273596:T145P	T	+	1	0	ABHD14A	51989484	0.998000	0.40836	0.998000	0.56505	0.825000	0.46686	4.292000	0.59031	2.170000	0.68504	0.460000	0.39030	ACA		0.642	ABHD14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349689.1	NM_015407		C	52014444	A	C	52014444	3	2	738	1	0	0	0	0	1	0	0	0	79	159	6	5	447	5	ABHD14A	3	52014444	Missense_Mutation	SNP	A	TCGA-KN-8432-01A-11D-2310-10	41830836	52014444	146007986	31	42813											
SNTN	132203	broad.mit.edu;bcgsc.ca	37	3	63649637	63649637	+	Nonsense_Mutation	SNP	A	A	T			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr3:63649637A>T	ENST00000343837.3	+	4	330	c.310A>T	c.(310-312)Aga>Tga	p.R104*	SNTN_ENST00000496807.1_Intron	NM_001080537.1	NP_001074006.1	A6NMZ2	SNTAN_HUMAN	sentan, cilia apical structure protein	104						cilium (GO:0005929)	calcium ion binding (GO:0005509)			endometrium(2)|ovary(1)	3						GCCAAAATACAGAGAGATCCT	0.358																																																0													104	99	101					3																	63649637		2203	4300	6503	SO:0001587	stop_gained	132203			AK126350	CCDS33779.1	3p14.2	2009-03-10	2009-03-10		ENSG00000188817	ENSG00000188817			33706	protein-coding gene	gene with protein product	"S100A-like protein"					18829862	Standard	NM_001080537		Approved	FLJ44379, S100AL	uc003dlr.3	A6NMZ2	OTTHUMG00000158766	ENST00000343837.3:c.310A>T	3.37:g.63649637A>T	ENSP00000341442:p.Arg104*		B7FF65	Nonsense_Mutation	SNP	ENST00000343837.3	37	CCDS33779.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.110024	0.77210	.	.	ENSG00000188817	ENST00000343837;ENST00000469440	.	.	.	5.6	4.5	0.54988	.	0.722044	0.13102	N	0.413673	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-0.7598	10.5063	0.44836	0.7943:0.2057:0.0:0.0	.	.	.	.	X	104;134	.	ENSP00000341442:R104X	R	+	1	2	SNTN	63624677	1.000000	0.71417	0.207000	0.23584	0.947000	0.59692	1.480000	0.35464	1.049000	0.40321	0.482000	0.46254	AGA		0.358	SNTN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352094.1	NM_001080537		T	63649637	A	T	63649637	4	4	738	1	0	0	0	0	0	1	0	0	14882	180	7	5	324	5	SNTN	3	63649637	Nonsense_Mutation	SNP	A	TCGA-KN-8432-01A-11D-2310-10	11635193	63649637	134372793	32	42814											
OR5H14	403273	mdanderson.org	37	3	97868588	97868588	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr3:97868588A>G	ENST00000437310.1	+	1	419	c.359A>G	c.(358-360)tAt>tGt	p.Y120C	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	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(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						ACAATGGCATATGATCGCTAT	0.403																																																0													118	130	126					3																	97868588		2203	4299	6502	SO:0001583	missense	403273				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.359A>G	3.37:g.97868588A>G	ENSP00000401706:p.Tyr120Cys		B9EH15	Missense_Mutation	SNP	ENST00000437310.1	37	CCDS33798.1	.	.	.	.	.	.	.	.	.	.	A	3.665	-0.068796	0.07228	.	.	ENSG00000236032	ENST00000437310	T	0.01347	4.99	2.49	2.49	0.30216	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42420	D	0.000704	T	0.02807	0.0084	M	0.84683	2.71	0.22581	N	0.998966	B	0.33280	0.405	B	0.30782	0.12	T	0.23440	-1.0188	10	0.72032	D	0.01	.	8.4219	0.32705	1.0:0.0:0.0:0.0	.	120	A6NHG9	O5H14_HUMAN	C	120	ENSP00000401706:Y120C	ENSP00000401706:Y120C	Y	+	2	0	OR5H14	99351278	1.000000	0.71417	0.963000	0.40424	0.048000	0.14542	3.811000	0.55620	1.132000	0.42129	0.164000	0.16699	TAT		0.403	OR5H14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359112.1			G	97868588	A	G	97868588	3	3	738	1	0	0	0	0	1	0	0	0	11162	449	16	3	361	3	OR5H14	3	97868588	Missense_Mutation	SNP	A	TCGA-KN-8432-01A-11D-2310-10	34218951	97868588	100153842	33	42815											
MCM2	4171	broad.mit.edu	37	3	127323460	127323460	+	Silent	SNP	C	C	T	rs186022338		TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr3:127323460C>T	ENST00000265056.7	+	3	490	c.246C>T	c.(244-246)cgC>cgT	p.R82R		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	82	Interaction with KAT7. {ECO:0000250}.				cell cycle (GO:0007049)|cellular response to interleukin-4 (GO:0071353)|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)|nucleosome assembly (GO:0006334)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|MCM complex (GO:0042555)|microtubule cytoskeleton (GO:0015630)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA replication origin binding (GO:0003688)|metal ion binding (GO:0046872)			ovary(3)|skin(2)|stomach(1)	6						GGGACTACCGCGCCATCCCAG	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		19091	0.001		0.0	False		,,,				2504	0.0															0								C		0,4406		0,0,2203	50	54	53		246	-10.6	0.4	3		53	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MCM2	NM_004526.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		82/905	127323460	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4171			X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111			6944	protein-coding gene	gene with protein product	"mitotin"	116945	"minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin)", "MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)"	CCNL1, CDCL1		1710453, 8258304	Standard	NM_004526		Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.246C>T	3.37:g.127323460C>T			Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Silent	SNP	ENST00000265056.7	37	CCDS3043.1																																																																																				0.592	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1			T	127323460	C	T	127323460	2	4	738	1	0	0	0	0	0	0	0	1	9388	755	27	1		1	MCM2	3	127323460	Silent	SNP	C	TCGA-KN-8432-01A-11D-2310-10	29454872	127323460	70698970	34	42816											
IGSF10	285313	broad.mit.edu	37	3	151163769	151163769	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr3:151163769T>C	ENST00000282466.3	-	4	3999	c.4000A>G	c.(4000-4002)Acc>Gcc	p.T1334A		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	1334					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)			TCTGTTTGGGTTTCATAAGTG	0.418																																																0													326	309	315					3																	151163769		2203	4300	6503	SO:0001583	missense	285313			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"Immunoglobulin superfamily / I-set domain containing"	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.4000A>G	3.37:g.151163769T>C	ENSP00000282466:p.Thr1334Ala		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	T	6.485	0.457729	0.12342	.	.	ENSG00000152580	ENST00000282466	T	0.70516	-0.49	4.51	3.34	0.38264	.	0.434043	0.19170	N	0.120951	T	0.47154	0.1430	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.36237	-0.9756	10	0.46703	T	0.11	.	7.0675	0.25159	0.0:0.1882:0.0:0.8118	.	1334	Q6WRI0	IGS10_HUMAN	A	1334	ENSP00000282466:T1334A	ENSP00000282466:T1334A	T	-	1	0	IGSF10	152646459	0.010000	0.17322	0.157000	0.22605	0.025000	0.11179	0.441000	0.21611	0.695000	0.31675	0.482000	0.46254	ACC		0.418	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		C	151163769	T	C	151163769	3	2	738	1	0	0	0	0	1	0	0	0	7599	1725	60	3	3931	3	IGSF10	3	151163769	Missense_Mutation	SNP	T	TCGA-KN-8432-01A-11D-2310-10	23840309	151163769	46858661	35	42817											
FRYL	285527	broad.mit.edu;mdanderson.org	37	4	48513002	48513002	+	Splice_Site	SNP	C	C	G			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr4:48513002C>G	ENST00000503238.1	-	55	8145		c.e55-1		FRYL_ENST00000358350.4_Splice_Site|FRYL_ENST00000537810.1_Splice_Site|FRYL_ENST00000264319.7_Splice_Site|FRYL_ENST00000507873.2_Splice_Site			O94915	FRYL_HUMAN	FRY-like						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						TTTGAATTGTCTATGGAGAAA	0.328																																																0													57	52	54					4																	48513002		1845	4085	5930	SO:0001630	splice_region_variant	285527			AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"KIAA0826", "furry homolog-like (Drosophila)"	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.8146-1G>C	4.37:g.48513002C>G			O95640|Q8WTZ5|Q9NT40	Splice_Site	SNP	ENST00000503238.1	37	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	C	13.37	2.216286	0.39201	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000264319;ENST00000507873	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.27	0.98469	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FRYL	48207759	1.000000	0.71417	0.998000	0.56505	0.058000	0.15608	7.194000	0.77789	2.854000	0.98071	0.655000	0.94253	.		0.328	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2		Intron	G	48513002	C	G	48513002	5	3	738	1	0	0	0	0	0	0	1	0	6066	927	32	4	924	4	FRYL	4	48513002	Splice_Site	SNP	C	TCGA-KN-8432-01A-11D-2310-10		48513002	142641274	36	42818											
LRRC66	339977	broad.mit.edu;mdanderson.org	37	4	52861445	52861445	+	Silent	SNP	G	G	A	rs187026269		TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr4:52861445G>A	ENST00000343457.3	-	4	1749	c.1743C>T	c.(1741-1743)tcC>tcT	p.S581S		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	581						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						TTATTTCTCCGGAGAGGGAAG	0.498													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19676	0.0		0.0	False		,,,				2504	0.0															0													103	110	108					4																	52861445		2124	4276	6400	SO:0001819	synonymous_variant	339977			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.1743C>T	4.37:g.52861445G>A				Silent	SNP	ENST00000343457.3	37	CCDS43229.1																																																																																				0.498	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611		A	52861445	G	A	52861445	2	1	738	1	0	0	0	0	0	0	0	1	9020	1103	39	1		1	LRRC66	4	52861445	Silent	SNP	G	TCGA-KN-8432-01A-11D-2310-10	4348443	52861445	138292831	37	42819											
MUC7	4589	broad.mit.edu	37	4	71347311	71347311	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr4:71347311C>T	ENST00000304887.5	+	3	1040	c.850C>T	c.(850-852)Cca>Tca	p.P284S	MUC7_ENST00000456088.1_Missense_Mutation_p.P284S|MUC7_ENST00000413702.1_Missense_Mutation_p.P284S	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	284	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)			CACAGCTGCCCCACCCACACC	0.577																																																0													408	367	381					4																	71347311		2203	4300	6503	SO:0001583	missense	4589			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.850C>T	4.37:g.71347311C>T	ENSP00000302021:p.Pro284Ser		Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	C	6.574	0.474257	0.12521	.	.	ENSG00000171195	ENST00000413702;ENST00000456088;ENST00000304887	T;T;T	0.64085	-0.08;-0.08;-0.08	1.95	1.09	0.20402	.	.	.	.	.	T	0.36936	0.0985	N	0.19112	0.55	0.09310	N	1	P	0.41784	0.762	B	0.35655	0.207	T	0.15350	-1.0440	8	.	.	.	.	2.6366	0.04959	0.2801:0.5462:0.0:0.1737	.	284	Q8TAX7	MUC7_HUMAN	S	284	ENSP00000407422:P284S;ENSP00000400585:P284S;ENSP00000302021:P284S	.	P	+	1	0	MUC7	71381900	0.003000	0.15002	0.001000	0.08648	0.004000	0.04260	0.878000	0.28126	0.357000	0.24183	0.603000	0.83216	CCA		0.577	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		T	71347311	C	T	71347311	3	4	738	1	0	0	0	0	1	0	0	0	9983	623	22	2	856	2	MUC7	4	71347311	Missense_Mutation	SNP	C	TCGA-KN-8432-01A-11D-2310-10	18485866	71347311	119806965	38	42820											
MTTP	4547	broad.mit.edu	37	4	100503089	100503091	+	In_Frame_Del	DEL	ATG	ATG	-			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	ATG	ATG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr4:100503089_100503091delATG	ENST00000265517.5	+	2	292_294	c.89_91delATG	c.(88-93)aatgac>aac	p.D31del	MTTP_ENST00000511045.1_In_Frame_Del_p.D58del|MTTP_ENST00000457717.1_In_Frame_Del_p.D31del|MTTP_ENST00000422897.2_In_Frame_Del_p.D31del			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	31	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				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)	TCATTAAATAATGACCGGCTGTA	0.458																																																0																																										SO:0001651	inframe_deletion	4547				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.89_91delATG	4.37:g.100503089_100503091delATG	ENSP00000265517:p.Asp31del		A8K428|Q08AM4|Q6P5T3	In_Frame_Del	DEL	ENST00000265517.5	37	CCDS3651.1																																																																																				0.458	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3			-	100503091	ATG	-	100503089	7	5	738	1	0	1	0	1	0	0	0	0	9966	101	4	0	95	0	MTTP	4	100503089	In_Frame_Del	DEL	ATG	TCGA-KN-8432-01A-11D-2310-10	29155778	100503089	90651187	39	42821											
NPY1R	4886	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	4	164247528	164247528	+	Missense_Mutation	SNP	G	G	C			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr4:164247528G>C	ENST00000296533.2	-	2	710	c.179C>G	c.(178-180)gCc>gGc	p.A60G	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	60					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose metabolic process (GO:0006006)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|regulation of blood pressure (GO:0008217)|regulation of multicellular organism growth (GO:0040014)|sensory perception of pain (GO:0019233)	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)			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TATGATCAAGGCCAGGTTTCC	0.408																																																0													126	114	118					4																	164247528		2203	4300	6503	SO:0001583	missense	4886				CCDS34089.1	4q31.3-q32	2012-08-08				ENSG00000164128		"GPCR / Class A : Neuropeptide receptors : Y"	7956	protein-coding gene	gene with protein product		162641		NPYR		8095935	Standard	NM_000909		Approved		uc003iqm.2	P25929		ENST00000296533.2:c.179C>G	4.37:g.164247528G>C	ENSP00000354652:p.Ala60Gly		B2R6H5	Missense_Mutation	SNP	ENST00000296533.2	37	CCDS34089.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.283635	0.59867	.	.	ENSG00000164128	ENST00000296533;ENST00000504790;ENST00000515701	T	0.72505	-0.66	5.56	5.56	0.83823	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.66446	0.2790	L	0.31420	0.93	0.80722	D	1	P	0.44521	0.837	B	0.43990	0.438	T	0.67632	-0.5621	10	0.45353	T	0.12	.	19.5226	0.95192	0.0:0.0:1.0:0.0	.	60	P25929	NPY1R_HUMAN	G	60	ENSP00000354652:A60G	ENSP00000354652:A60G	A	-	2	0	NPY1R	164466978	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	6.145000	0.71769	2.617000	0.88574	0.585000	0.79938	GCC		0.408	NPY1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364685.1			C	164247528	G	C	164247528	3	2	738	1	0	0	0	0	1	0	0	0	10610	1203	42	4	983	4	NPY1R	4	164247528	Missense_Mutation	SNP	G	TCGA-KN-8432-01A-11D-2310-10	63744439	164247528	26906748	40	42822											
TKTL2	84076	broad.mit.edu	37	4	164393866	164393866	+	Missense_Mutation	SNP	C	C	A			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr4:164393866C>A	ENST00000280605.3	-	1	1181	c.1021G>T	c.(1021-1023)Gtt>Ttt	p.V341F		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	341						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)				CCACTCAGaacaataactctt	0.433																																																0													120	117	118					4																	164393866		2203	4300	6503	SO:0001583	missense	84076			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.1021G>T	4.37:g.164393866C>A	ENSP00000280605:p.Val341Phe		A4FVB4|Q8NCT0|Q96M82	Missense_Mutation	SNP	ENST00000280605.3	37	CCDS3805.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.441919	0.83993	.	.	ENSG00000151005	ENST00000280605	D	0.92249	-3.0	4.3	4.3	0.51218	Transketolase-like, pyrimidine-binding domain (2);	0.133117	0.48286	D	0.000182	D	0.95787	0.8629	M	0.83603	2.65	0.45005	D	0.998025	D	0.61697	0.99	D	0.69142	0.962	D	0.96047	0.9028	10	0.87932	D	0	-19.7279	15.0576	0.71927	0.0:1.0:0.0:0.0	.	341	Q9H0I9	TKTL2_HUMAN	F	341	ENSP00000280605:V341F	ENSP00000280605:V341F	V	-	1	0	TKTL2	164613316	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.325000	0.79124	2.672000	0.90937	0.655000	0.94253	GTT		0.433	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365207.1	NM_032136		A	164393866	C	A	164393866	3	1	738	1	0	0	0	0	1	0	0	0	15941	478	17	4	863	4	TKTL2	4	164393866	Missense_Mutation	SNP	C	TCGA-KN-8432-01A-11D-2310-10	146338	164393866	26760410	41	42823											
SDHA	6389	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	5	235341	235341	+	Missense_Mutation	SNP	A	A	T			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr5:235341A>T	ENST00000264932.6	+	9	1262	c.1147A>T	c.(1147-1149)Att>Ttt	p.I383F	SDHA_ENST00000510361.1_Missense_Mutation_p.I335F|SDHA_ENST00000504309.1_Missense_Mutation_p.I383F	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	383					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)	CCTGCCTGGCATTTCAGAGAC	0.592									Familial Paragangliomas																																							0													65	59	61					5																	235341		2203	4300	6503	SO:0001583	missense	6389	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	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.1147A>T	5.37:g.235341A>T	ENSP00000264932:p.Ile383Phe		A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	ENST00000264932.6	37	CCDS3853.1	.	.	.	.	.	.	.	.	.	.	N	24.4	4.530122	0.85706	.	.	ENSG00000073578	ENST00000264932;ENST00000327872;ENST00000504309;ENST00000510361	T;T;T	0.70399	-0.48;-0.48;-0.48	5.12	5.12	0.69794	Fumarate reductase/succinate dehydrogenase flavoprotein, N-terminal (1);	0.000000	0.85682	U	0.000000	D	0.90160	0.6925	H	0.98936	4.375	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;0.998;1.0;0.998;0.998	D	0.93509	0.6851	10	0.87932	D	0	.	13.1683	0.59583	1.0:0.0:0.0:0.0	.	335;383;383;383;389	E9PBJ5;B4DYN5;D6RFM5;P31040;Q59GW8	.;.;.;DHSA_HUMAN;.	F	383;238;383;335	ENSP00000264932:I383F;ENSP00000426514:I383F;ENSP00000427703:I335F	ENSP00000264932:I383F	I	+	1	0	SDHA	288341	1.000000	0.71417	0.995000	0.50966	0.738000	0.42128	8.509000	0.90529	2.055000	0.61198	0.455000	0.32223	ATT		0.592	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	NM_004168		T	235341	A	T	235341	3	4	738	1	0	0	0	0	1	0	0	0	13969	217	8	5	1181	5	SDHA	5	235341	Missense_Mutation	SNP	A	TCGA-KN-8432-01A-11D-2310-10		235341	180679919	42	42824											
ANKRD43	134548	broad.mit.edu	37	5	132149586	132149590	+	Frame_Shift_Del	DEL	ACCCT	ACCCT	-			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	ACCCT	ACCCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr5:132149586_132149590delACCCT	ENST00000378693.2	+	1	554_558	c.273_277delACCCT	c.(271-279)gcacccttcfs	p.PF92fs		NM_175873.4	NP_787069.3	Q2M3V2	SWAHA_HUMAN	sosondowah ankyrin repeat domain family member A	92	Pro-rich.																CCGAGCCCGCACCCTTCGGCCCCCC	0.712																																																0																																										SO:0001589	frameshift_variant	134548			AK090823	CCDS43361.1	5q23.3	2013-01-10	2012-01-12	2012-01-12	ENSG00000198944	ENSG00000198944		"Ankyrin repeat domain containing"	27033	protein-coding gene	gene with protein product			"ankyrin repeat domain 43"	ANKRD43		22234889	Standard	NM_175873		Approved		uc003kxw.3	Q2M3V2	OTTHUMG00000059844	ENST00000378693.2:c.273_277delACCCT	5.37:g.132149586_132149590delACCCT	ENSP00000367965:p.Pro92fs		Q8NAE7	Frame_Shift_Del	DEL	ENST00000378693.2	37	CCDS43361.1																																																																																				0.712	SOWAHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133062.1	NM_175873		-	132149590	ACCCT	-	132149586	7	5	738	1	0	1	0	1	0	0	0	0	671	146	6	0	275	0	ANKRD43	5	132149586	Frame_Shift_Del	DEL	ACCCT	TCGA-KN-8432-01A-11D-2310-10	131914245	132149586	48765674	43	42825											
ANKHD1-EIF4EBP3	8637	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	5	139928655	139928655	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr5:139928655A>G	ENST00000310331.2	+	2	340	c.268A>G	c.(268-270)Ata>Gta	p.I90V	ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.D2615G|ANKHD1_ENST00000297183.6_Missense_Mutation_p.D2615G|SRA1_ENST00000520427.1_5'Flank	NM_003732.2	NP_003723.1	O60516	4EBP3_HUMAN	eukaryotic translation initiation factor 4E binding protein 3	90					negative regulation of translational initiation (GO:0045947)	eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	translation repressor activity (GO:0030371)			endometrium(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGGAAGAGATACCCGGTAA	0.557																																																0													48	50	49					5																	139928655		2203	4300	6503	SO:0001583	missense	404734			AF038869	CCDS4226.1	5q31.3	2007-07-18			ENSG00000243056	ENSG00000243056			3290	protein-coding gene	gene with protein product		603483				9593750	Standard	NM_003732		Approved	4E-BP3	uc003lfy.1	O60516	OTTHUMG00000129498	ENST00000310331.2:c.268A>G	5.37:g.139928655A>G	ENSP00000308472:p.Ile90Val			Missense_Mutation	SNP	ENST00000310331.2	37	CCDS4226.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.54|18.54	3.646949|3.646949	0.67358|0.67358	.|.	.|.	ENSG00000131503;ENSG00000254996;ENSG00000254996|ENSG00000243056	ENST00000297183;ENST00000532219;ENST00000437495|ENST00000310331	T;T;T|.	0.73258|.	-0.73;-0.73;0.58|.	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	.|.	.|.	.|.	.|.	T|T	0.40222|0.40222	0.1108|0.1108	N|N	0.17474|0.17474	0.49|0.49	0.39119|0.39119	D|D	0.961632|0.961632	B|B	0.12013|0.06786	0.005|0.001	B|B	0.14023|0.04013	0.01|0.001	T|T	0.32666|0.32666	-0.9898|-0.9898	8|7	.|.	.|.	.|.	.|.	12.9688|12.9688	0.58501|0.58501	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	2615|90	Q8IWZ2|O60516	.|4EBP3_HUMAN	G|V	2615;2615;634|90	ENSP00000297183:D2615G;ENSP00000432016:D2615G;ENSP00000396882:D634G|.	.|.	D|I	+|+	2|1	0|0	ANKHD1-EIF4EBP3;ANKHD1|EIF4EBP3	139908839|139908839	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	3.202000|3.202000	0.51067|0.51067	2.091000|2.091000	0.63221|0.63221	0.533000|0.533000	0.62120|0.62120	GAT|ATA		0.557	EIF4EBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251668.2	NM_003732		G	139928655	A	G	139928655	3	3	738	1	0	0	0	0	1	0	0	0	629	333	12	3	7982	3	ANKHD1-EIF4EBP3	5	139928655	Missense_Mutation	SNP	A	TCGA-KN-8432-01A-11D-2310-10	7779069	139928655	40986605	44	42826											
ZNF354A	6940	mdanderson.org	37	5	178139379	178139380	+	Missense_Mutation	DNP	CC	CC	GT	rs199632980|rs201342253	byFrequency	TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	CC	CC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr5:178139379_178139380CC>GT	ENST00000335815.2	-	5	1696_1697	c.1499_1500GG>AC	c.(1498-1500)gGG>gAC	p.G500D		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	500					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)		TGAATGTTTTCCCACACTCGTT	0.391																																																0																																										SO:0001583	missense	6940			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.1499_1500delinsGT	5.37:g.178139379_178139380delinsGT	ENSP00000337122:p.Gly500Asp		Q9UNJ8	Missense_Mutation	DNP	ENST00000335815.2	37	CCDS4438.1																																																																																				0.391	ZNF354A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253481.1	NM_005649		GT	178139380	CC	GT	178139379	3	3	738	1	0	0	0	0	1	0	0	0	17869	842	30	4	321	4	ZNF354A	5	178139379	Missense_Mutation	DNP	CC	TCGA-KN-8432-01A-11D-2310-10	38210724	178139379	2775881	45	42827	404	2									
ZNF354A	6940	mdanderson.org	37	5	178139385	178139385	+	Silent	SNP	C	C	T	rs199620032	byFrequency	TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr5:178139385C>T	ENST00000335815.2	-	5	1691	c.1494G>A	c.(1492-1494)gaG>gaA	p.E498E		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	498					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)		TTTTCCCACACTCGTTACATT	0.388																																																0													122	119	120					5																	178139385		2203	4300	6503	SO:0001819	synonymous_variant	6940			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.1494G>A	5.37:g.178139385C>T			Q9UNJ8	Silent	SNP	ENST00000335815.2	37	CCDS4438.1																																																																																				0.388	ZNF354A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253481.1	NM_005649		T	178139385	C	T	178139385	2	4	738	1	0	0	0	0	0	0	0	1	17869	564	20	2		2	ZNF354A	5	178139385	Silent	SNP	C	TCGA-KN-8432-01A-11D-2310-10	6	178139385	2775875	46	42828	404	2									
HLA-DQA2	3118	mdanderson.org	37	6	32714168	32714168	+	Silent	SNP	A	A	G	rs9276437	byFrequency	TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr6:32714168A>G	ENST00000374940.3	+	4	867	c.765A>G	c.(763-765)ttA>ttG	p.L255L		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	255					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)|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)			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					"""Insulin(DB00071)"	AAGGGCTCTTATGAATCCCAT	0.517													.|||	786	0.156949	0.3033	0.219	5008	,	,		21502	0.0655		0.1153	False		,,,				2504	0.0521															0								G		751,2271		79,593,839	119	121	120		765	1.1	0.1	6	dbSNP_118	120	527,4891		14,499,2196	no	coding-synonymous	HLA-DQA2	NM_020056.4		93,1092,3035	GG,GA,AA		9.7268,24.8511,15.1422		255/256	32714168	1278,7162	1511	2709	4220	SO:0001819	synonymous_variant	3118				CCDS4753.1	6p21.3	2013-01-11			ENSG00000237541	ENSG00000237541		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4943	protein-coding gene	gene with protein product		613503		HLA-DXA			Standard	NM_020056		Approved		uc003obx.3	P01906	OTTHUMG00000031108	ENST00000374940.3:c.765A>G	6.37:g.32714168A>G			A2BF37|B0V0E7|O19789|Q5SQ94|Q5SR04	Silent	SNP	ENST00000374940.3	37	CCDS4753.1																																																																																				0.517	HLA-DQA2-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076179.2	NM_020056		G	32714168	A	G	32714168	2	3	738	1	0	0	0	0	0	0	0	1	7207	446	16	3		3	HLA-DQA2	6	32714168	Silent	SNP	A	TCGA-KN-8432-01A-11D-2310-10		32714168	138400899	47	42829											
MTCH1	23787	broad.mit.edu;hgsc.bcm.edu	37	6	36938223	36938223	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr6:36938223delG	ENST00000373627.5	-	10	1105	c.981delC	c.(979-981)cccfs	p.P327fs	MTCH1_ENST00000471737.1_5'UTR|MTCH1_ENST00000538808.1_Frame_Shift_Del_p.P154fs|MTCH1_ENST00000373616.5_Frame_Shift_Del_p.P310fs	NM_001271641.1	NP_001258570.1	Q9NZJ7	MTCH1_HUMAN	mitochondrial carrier 1	327					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|neuronal ion channel clustering (GO:0045161)|positive regulation of apoptotic process (GO:0043065)|regulation of signal transduction (GO:0009966)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						CTAGCAGGAAGGGGTAGGTCA	0.622																																																0													87	79	82					6																	36938223		2203	4300	6503	SO:0001589	frameshift_variant	23787			AF151822	CCDS4828.1, CCDS64411.1	6p21.2	2013-05-22	2011-05-19		ENSG00000137409	ENSG00000137409		"Solute carriers"	17586	protein-coding gene	gene with protein product	"solute carrier family 25, member 49"	610449	"mitochondrial carrier homolog 1 (C. elegans)"			12377771	Standard	NM_014341		Approved	CGI-64, PSAP, SLC25A49	uc003ond.2	Q9NZJ7	OTTHUMG00000014614	ENST00000373627.5:c.981delC	6.37:g.36938223delG	ENSP00000362730:p.Pro327fs		A8KAX5|B2RCE3|Q6PK60|Q6UX45|Q7L465|Q9BW23|Q9NZR6|Q9UJZ5	Frame_Shift_Del	DEL	ENST00000373627.5	37																																																																																					0.622	MTCH1-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040396.1	NM_014341		-	36938223	G	-	36938223	7	5	738	1	0	1	0	1	0	0	0	0	9915	987	35	0	200	0	MTCH1	6	36938223	Frame_Shift_Del	DEL	G	TCGA-KN-8432-01A-11D-2310-10	4224055	36938223	134176844	48	42830	405	2									
MTCH1	23787	bcgsc.ca	37	6	36938224	36938224	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr6:36938224delG	ENST00000373627.5	-	10	1104	c.980delC	c.(979-981)cccfs	p.P327fs	MTCH1_ENST00000471737.1_5'UTR|MTCH1_ENST00000538808.1_Frame_Shift_Del_p.P154fs|MTCH1_ENST00000373616.5_Frame_Shift_Del_p.P310fs	NM_001271641.1	NP_001258570.1	Q9NZJ7	MTCH1_HUMAN	mitochondrial carrier 1	327					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|neuronal ion channel clustering (GO:0045161)|positive regulation of apoptotic process (GO:0043065)|regulation of signal transduction (GO:0009966)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						TAGCAGGAAGGGGTAGGTCAG	0.617																																																0													87	78	81					6																	36938224		2203	4300	6503	SO:0001589	frameshift_variant	23787			AF151822	CCDS4828.1, CCDS64411.1	6p21.2	2013-05-22	2011-05-19		ENSG00000137409	ENSG00000137409		"Solute carriers"	17586	protein-coding gene	gene with protein product	"solute carrier family 25, member 49"	610449	"mitochondrial carrier homolog 1 (C. elegans)"			12377771	Standard	NM_014341		Approved	CGI-64, PSAP, SLC25A49	uc003ond.2	Q9NZJ7	OTTHUMG00000014614	ENST00000373627.5:c.980delC	6.37:g.36938224delG	ENSP00000362730:p.Pro327fs		A8KAX5|B2RCE3|Q6PK60|Q6UX45|Q7L465|Q9BW23|Q9NZR6|Q9UJZ5	Frame_Shift_Del	DEL	ENST00000373627.5	37																																																																																					0.617	MTCH1-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040396.1	NM_014341		-	36938224	G	-	36938224	7	5	738	1	0	1	0	1	0	0	0	0	9915	1232	43	0	201	0	MTCH1	6	36938224	Frame_Shift_Del	DEL	G	TCGA-KN-8432-01A-11D-2310-10	1	36938224	134176843	49	42831	405	2									
RNF8	9025	bcgsc.ca	37	6	37336717	37336717	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr6:37336717A>G	ENST00000373479.4	+	3	891	c.698A>G	c.(697-699)gAg>gGg	p.E233G	RNF8_ENST00000469731.1_Missense_Mutation_p.E233G|RNF8_ENST00000479516.1_3'UTR	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	233					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|histone exchange (GO:0043486)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A ubiquitination (GO:0033522)|histone H2B ubiquitination (GO:0033523)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|mitotic nuclear division (GO:0007067)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|response to ionizing radiation (GO:0010212)|spermatid development (GO:0007286)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome, telomeric region (GO:0000781)|nucleolus (GO:0005730)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						GTTCATCATGAGCAGAAAGCC	0.463																																																0													93	98	97					6																	37336717		2203	4300	6503	SO:0001583	missense	9025			AB012770	CCDS4833.1, CCDS4834.1	6p21.3	2013-01-09	2012-02-23		ENSG00000112130	ENSG00000112130		"RING-type (C3HC4) zinc fingers"	10071	protein-coding gene	gene with protein product		611685	"ring finger protein (C3HC4 type) 8", "ring finger protein 8"			9734811, 9852682	Standard	NM_003958		Approved	KIAA0646	uc003onq.4	O76064	OTTHUMG00000014620	ENST00000373479.4:c.698A>G	6.37:g.37336717A>G	ENSP00000362578:p.Glu233Gly		A6NN24|A8MYC0|B4DPG0|Q53H16|Q5NKW5	Missense_Mutation	SNP	ENST00000373479.4	37	CCDS4834.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.90|11.90	1.777999|1.777999	0.31502|0.31502	.|.	.|.	ENSG00000112130|ENSG00000112130	ENST00000373479;ENST00000487950;ENST00000469731|ENST00000498460	D;T;T|.	0.82893|.	-1.66;0.84;0.86|.	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	1.171240|.	0.06183|.	N|.	0.679756|.	T|.	0.35098|.	0.0920|.	N|N	0.14661|0.14661	0.345|0.345	0.49915|0.49915	D|D	0.999837|0.999837	B;B|.	0.23937|.	0.094;0.039|.	B;B|.	0.16722|.	0.016;0.016|.	T|.	0.34875|.	-0.9811|.	10|.	0.54805|.	T|.	0.06|.	-0.8433|-0.8433	15.8218|15.8218	0.78654|0.78654	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	176;233|.	C9J858;O76064|.	.;RNF8_HUMAN|.	G|W	233;176;233|22	ENSP00000362578:E233G;ENSP00000417736:E176G;ENSP00000418879:E233G|.	ENSP00000362578:E233G|.	E|X	+|+	2|3	0|0	RNF8|RNF8	37444695|37444695	1.000000|1.000000	0.71417|0.71417	0.949000|0.949000	0.38748|0.38748	0.413000|0.413000	0.31143|0.31143	2.544000|2.544000	0.45761|0.45761	2.326000|2.326000	0.78906|0.78906	0.533000|0.533000	0.62120|0.62120	GAG|TGA		0.463	RNF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040403.2			G	37336717	A	G	37336717	3	3	738	1	0	0	0	0	1	0	0	0	13506	304	11	3	708	3	RNF8	6	37336717	Missense_Mutation	SNP	A	TCGA-KN-8432-01A-11D-2310-10	398493	37336717	133778350	50	42832											
KCNQ5	56479	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	6	73787542	73787542	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr6:73787542G>T	ENST00000370398.1	+	5	959	c.850G>T	c.(850-852)Gtc>Ttc	p.V284F	KCNQ5_ENST00000355194.4_Missense_Mutation_p.V284F|KCNQ5_ENST00000414165.2_Missense_Mutation_p.V284F|KCNQ5_ENST00000370392.1_Missense_Mutation_p.V284F|KCNQ5_ENST00000342056.2_Missense_Mutation_p.V284F|KCNQ5_ENST00000403813.2_Missense_Mutation_p.V284F|KCNQ5_ENST00000402622.2_Missense_Mutation_p.V284F|KCNQ5_ENST00000355635.3_Missense_Mutation_p.V284F	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	284					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	GTCTTTCCTTGTCTATCTGGT	0.333																																					GBM(142;1375 1859 14391 23261 44706)											0													130	112	118					6																	73787542		2203	4300	6503	SO:0001583	missense	56479			AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.850G>T	6.37:g.73787542G>T	ENSP00000359425:p.Val284Phe		A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	ENST00000370398.1	37	CCDS4976.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.043519	0.93685	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000370392;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	D;D;D;D;D;D;D;D	0.96745	-4.11;-4.11;-4.11;-4.11;-4.11;-4.11;-4.11;-4.11	5.86	5.86	0.93980	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97272	0.9108	L	0.48260	1.515	0.80722	D	1	D;D;D;D;D;D	0.89917	0.998;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.976;0.986;0.998;0.996;0.997;0.991	D	0.97750	1.0214	10	0.87932	D	0	.	20.1823	0.98208	0.0:0.0:1.0:0.0	.	284;284;284;284;284;284	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82;Q9NR82-4	.;.;.;.;KCNQ5_HUMAN;.	F	284	ENSP00000345055:V284F;ENSP00000347326:V284F;ENSP00000359425:V284F;ENSP00000359419:V284F;ENSP00000385501:V284F;ENSP00000347853:V284F;ENSP00000384453:V284F;ENSP00000409861:V284F	ENSP00000345055:V284F	V	+	1	0	KCNQ5	73844263	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.771000	0.95319	0.650000	0.86243	GTC		0.333	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842		T	73787542	G	T	73787542	3	4	738	1	0	0	0	0	1	0	0	0	8088	1377	48	4	868	4	KCNQ5	6	73787542	Missense_Mutation	SNP	G	TCGA-KN-8432-01A-11D-2310-10	36450825	73787542	97327525	51	42833											
LAMA4	3910	broad.mit.edu;mdanderson.org	37	6	112480083	112480083	+	Splice_Site	SNP	C	C	G			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr6:112480083C>G	ENST00000230538.7	-	14	2066		c.e14-1		LAMA4_ENST00000424408.2_Splice_Site|RP1-142L7.5_ENST00000585373.1_RNA|RP1-142L7.5_ENST00000425503.1_RNA|LAMA4_ENST00000389463.4_Splice_Site|LAMA4_ENST00000522006.1_Splice_Site	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4						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)		CTGACGCATTCTAAAGAAAAA	0.308																																																0													75	70	71					6																	112480083		2202	4300	6502	SO:0001630	splice_region_variant	3910				CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"Laminins"	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.1669-1G>C	6.37:g.112480083C>G			Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Splice_Site	SNP	ENST00000230538.7	37	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.237236	0.58886	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.695	0.85333	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LAMA4	112586776	1.000000	0.71417	0.997000	0.53966	0.815000	0.46073	4.452000	0.60054	2.668000	0.90789	0.591000	0.81541	.		0.308	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206	Intron	G	112480083	C	G	112480083	5	3	738	1	0	0	0	0	0	0	1	0	8610	927	32	4	3907	4	LAMA4	6	112480083	Splice_Site	SNP	C	TCGA-KN-8432-01A-11D-2310-10	38692541	112480083	58634984	52	42834											
MED23	9439	broad.mit.edu	37	6	131919846	131919846	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr6:131919846delT	ENST00000368068.3	-	19	2455	c.2276delA	c.(2275-2277)aatfs	p.N759fs	MED23_ENST00000368060.3_Frame_Shift_Del_p.N759fs|MED23_ENST00000368058.1_Frame_Shift_Del_p.N765fs|MED23_ENST00000368053.4_Frame_Shift_Del_p.N765fs|MED23_ENST00000540546.1_Frame_Shift_Del_p.N765fs|MED23_ENST00000403834.3_Frame_Shift_Del_p.N765fs|MED23_ENST00000545957.1_Frame_Shift_Del_p.N400fs|MED23_ENST00000354577.4_Frame_Shift_Del_p.N765fs|MED23_ENST00000479213.1_5'Flank	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	759					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)	p.N759fs*7(1)|p.N765fs*7(1)		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)		CTCCTCCACATTTTTTTTCAG	0.378																																																2	Insertion - Frameshift(2)	large_intestine(2)											154	151	152					6																	131919846		2203	4300	6503	SO:0001589	frameshift_variant	9439			AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.2276delA	6.37:g.131919846delT	ENSP00000357047:p.Asn759fs		B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Frame_Shift_Del	DEL	ENST00000368068.3	37	CCDS5147.1																																																																																				0.378	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042215.1			-	131919846	T	-	131919846	7	5	738	1	0	1	0	1	0	0	0	0	9443	1493	52	0	1881	0	MED23	6	131919846	Frame_Shift_Del	DEL	T	TCGA-KN-8432-01A-11D-2310-10	19439763	131919846	39195221	53	42835											
TAAR2	9287	broad.mit.edu	37	6	132945376	132945376	+	Missense_Mutation	SNP	G	G	C			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr6:132945376G>C	ENST00000367931.1	-	1	38	c.39C>G	c.(37-39)ttC>ttG	p.F13L	TAAR2_ENST00000537809.1_5'UTR			Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	13					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)		GTGTTCTTTTGAAATGTGAAA	0.378																																																0													163	139	147					6																	132945376		2203	4300	6503	SO:0001583	missense	9287			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.39C>G	6.37:g.132945376G>C	ENSP00000356908:p.Phe13Leu		Q5QD02|Q6NWS1|Q6NWS2|Q6NWS3	Missense_Mutation	SNP	ENST00000367931.1	37	CCDS34541.1	.	.	.	.	.	.	.	.	.	.	G	10.65	1.411143	0.25465	.	.	ENSG00000146378	ENST00000367931	T	0.58797	0.31	3.9	-0.907	0.10521	.	4.101820	0.00541	N	0.000221	T	0.08758	0.0217	N	0.08118	0	0.20926	N	0.999828	B	0.02656	0.0	B	0.01281	0.0	T	0.08229	-1.0732	10	0.02654	T	1	-3.0145	0.5532	0.00666	0.1716:0.2031:0.2155:0.4097	.	13	Q9P1P5	TAAR2_HUMAN	L	13	ENSP00000356908:F13L	ENSP00000356908:F13L	F	-	3	2	TAAR2	132987069	0.001000	0.12720	0.003000	0.11579	0.183000	0.23260	-0.531000	0.06171	-0.161000	0.10983	0.650000	0.86243	TTC		0.378	TAAR2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390735.1	NM_014626		C	132945376	G	C	132945376	3	2	738	1	0	0	0	0	1	0	0	0	15495	1281	45	4	1024	4	TAAR2	6	132945376	Missense_Mutation	SNP	G	TCGA-KN-8432-01A-11D-2310-10	1025530	132945376	38169691	54	42836											
AHR	196	hgsc.bcm.edu;ucsc.edu	37	7	17369578	17369578	+	Silent	SNP	T	T	A			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr7:17369578T>A	ENST00000242057.4	+	5	1096	c.453T>A	c.(451-453)tcT>tcA	p.S151S		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	151	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				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)	TTCTTTAGTCTGATGTCATAC	0.358																																																0													68	69	69					7																	17369578		2203	4300	6503	SO:0001819	synonymous_variant	196			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.453T>A	7.37:g.17369578T>A			A4D130|Q13728|Q13803|Q13804	Silent	SNP	ENST00000242057.4	37	CCDS5366.1																																																																																				0.358	AHR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314620.2	NM_001621		A	17369578	T	A	17369578	2	1	738	1	0	0	0	0	0	0	0	1	416	1567	55	5		5	AHR	7	17369578	Silent	SNP	T	TCGA-KN-8432-01A-11D-2310-10		17369578	141769085	55	42837											
VWC2	375567	ucsc.edu	37	7	49815089	49815089	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr7:49815089T>C	ENST00000340652.4	+	2	614	c.58T>C	c.(58-60)Tgc>Cgc	p.C20R		NM_198570.3	NP_940972.2	Q2TAL6	VWC2_HUMAN	von Willebrand factor C domain containing 2	20					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						CCTGGTCACCTGCTGCCTGAT	0.711																																																0													22	17	19					7																	49815089		2200	4299	6499	SO:0001583	missense	375567			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.58T>C	7.37:g.49815089T>C	ENSP00000341819:p.Cys20Arg		Q6UXE2	Missense_Mutation	SNP	ENST00000340652.4	37	CCDS5508.1	.	.	.	.	.	.	.	.	.	.	T	16.31	3.086076	0.55861	.	.	ENSG00000188730	ENST00000340652	T	0.33654	1.4	4.53	3.34	0.38264	.	0.159801	0.43747	D	0.000532	T	0.16981	0.0408	N	0.08118	0	0.47547	D	0.999459	P	0.41041	0.736	B	0.32465	0.146	T	0.06481	-1.0824	10	0.87932	D	0	-12.7074	11.0243	0.47736	0.0:0.0:0.1567:0.8433	.	20	Q2TAL6	VWC2_HUMAN	R	20	ENSP00000341819:C20R	ENSP00000341819:C20R	C	+	1	0	VWC2	49785635	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.836000	0.62789	0.538000	0.28769	0.454000	0.30748	TGC		0.711	VWC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251375.2	NM_198570		C	49815089	T	C	49815089	3	2	738	1	0	0	0	0	1	0	0	0	17248	1580	55	3	60	3	VWC2	7	49815089	Missense_Mutation	SNP	T	TCGA-KN-8432-01A-11D-2310-10	32445511	49815089	109323574	56	42838											
IKZF1	10320	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	7	50444370	50444370	+	Silent	SNP	C	C	T			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr7:50444370C>T	ENST00000331340.3	+	4	455	c.300C>T	c.(298-300)ggC>ggT	p.G100G	IKZF1_ENST00000439701.1_Silent_p.G100G|IKZF1_ENST00000438033.1_Intron|IKZF1_ENST00000359197.5_Silent_p.G100G|IKZF1_ENST00000357364.4_Silent_p.G100G|IKZF1_ENST00000349824.4_Silent_p.G100G|IKZF1_ENST00000343574.5_Intron|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000440768.2_Silent_p.G100G	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)	100					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)				GGGACCAAGGCAGCTCGGCTT	0.512			"D,T"	BCL6	"ALL, DLBCL"																																		"Rec,Dom"	yes		7	7p12.2	10320	IKAROS family zinc finger 1		L	131	Unknown(131)	haematopoietic_and_lymphoid_tissue(131)											91	98	96					7																	50444370		1949	4133	6082	SO:0001819	synonymous_variant	10320			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.300C>T	7.37:g.50444370C>T			A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Silent	SNP	ENST00000331340.3	37																																																																																					0.512	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000342242.1	NM_006060		T	50444370	C	T	50444370	2	4	738	1	0	0	0	0	0	0	0	1	7616	697	25	2		2	IKZF1	7	50444370	Silent	SNP	C	TCGA-KN-8432-01A-11D-2310-10	629281	50444370	108694293	57	42839											
GTF2IRD2B	389524	hgsc.bcm.edu	37	7	74563945	74563945	+	Silent	SNP	C	C	A			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr7:74563945C>A	ENST00000312575.7	+	16	1867	c.1692C>A	c.(1690-1692)gcC>gcA	p.A564A	GTF2IRD2B_ENST00000418185.2_Silent_p.A111A	NM_001003795.2	NP_001003795.1	Q6EKJ0	GTD2B_HUMAN	GTF2I repeat domain containing 2B	564					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|ovary(2)|prostate(1)	4						cccagttggccatattcatcc	0.438																																																0													12	13	13					7																	74563945		2195	4276	6471	SO:0001819	synonymous_variant	389524			AY312850	CCDS34659.1	7q11.23	2014-05-06			ENSG00000174428	ENSG00000174428			33125	protein-coding gene	gene with protein product		608900				15100712	Standard	XM_005277580		Approved		uc003ubt.3	Q6EKJ0	OTTHUMG00000181534	ENST00000312575.7:c.1692C>A	7.37:g.74563945C>A			B2RNE9|Q69GU6|Q8N979|Q9H739	Silent	SNP	ENST00000312575.7	37	CCDS34659.1																																																																																				0.438	GTF2IRD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342728.1	NM_001003795		A	74563945	C	A	74563945	2	1	738	1	0	0	0	0	0	0	0	1	6872	581	21	4		4	GTF2IRD2B	7	74563945	Silent	SNP	C	TCGA-KN-8432-01A-11D-2310-10	24119575	74563945	84574718	58	42840											
MLL3	58508	mdanderson.org	37	7	151962294	151962294	+	Splice_Site	SNP	G	G	A			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr7:151962294G>A	ENST00000262189.6	-	8	1231	c.1013C>T	c.(1012-1014)tCg>tTg	p.S338L	KMT2C_ENST00000355193.2_Splice_Site_p.S338L	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	338					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)										ATCTTCCTTCGCTATAATTAA	0.368																																																0													67	63	64					7																	151962294		2203	4299	6502	SO:0001630	splice_region_variant	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1013-1C>T	7.37:g.151962294G>A			Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.342287	0.24339	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.98862	-5.19;-5.19	4.65	4.65	0.58169	Zinc finger, RING/FYVE/PHD-type (1);Protein kinase C-like, phorbol ester/diacylglycerol binding (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.36482	U	0.002566	D	0.98024	0.9349	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	D	0.97032	0.9751	10	0.11794	T	0.64	.	17.9157	0.88950	0.0:0.0:1.0:0.0	.	338	Q8NEZ4	MLL3_HUMAN	L	338	ENSP00000262189:S338L;ENSP00000347325:S338L	ENSP00000262189:S338L	S	-	2	0	MLL3	151593227	1.000000	0.71417	0.997000	0.53966	0.003000	0.03518	7.569000	0.82380	2.271000	0.75665	0.557000	0.71058	TCG		0.368	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3		Missense_Mutation	A	151962294	G	A	151962294	5	1	738	1	0	0	0	0	0	0	1	0	9624	1101	38	1	13930	1	MLL3	7	151962294	Splice_Site	SNP	G	TCGA-KN-8432-01A-11D-2310-10	77398349	151962294	7176369	59	42841											
XKR6	286046	broad.mit.edu	37	8	10755515	10755515	+	Missense_Mutation	SNP	A	A	C			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr8:10755515A>C	ENST00000416569.2	-	3	1899	c.1873T>G	c.(1873-1875)Tat>Gat	p.Y625D	XKR6_ENST00000304437.2_Missense_Mutation_p.Y346D	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	625						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)		CCGTCTCGATATCGAATGCCT	0.468																																																0													125	116	119					8																	10755515		2203	4300	6503	SO:0001583	missense	286046			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.1873T>G	8.37:g.10755515A>C	ENSP00000416707:p.Tyr625Asp		Q8TBA0	Missense_Mutation	SNP	ENST00000416569.2	37	CCDS5978.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.93|15.93	2.978415|2.978415	0.53720|0.53720	.|.	.|.	ENSG00000171044|ENSG00000171044	ENST00000382461|ENST00000304437;ENST00000416569	.|D;D	.|0.94000	.|-3.11;-3.33	4.55|4.55	4.55|4.55	0.56014|0.56014	.|.	.|0.135739	.|0.51477	.|D	.|0.000086	D|D	0.96037|0.96037	0.8709|0.8709	M|M	0.73962|0.73962	2.25|2.25	0.58432|0.58432	D|D	0.999991|0.999991	.|D	.|0.76494	.|0.999	.|D	.|0.80764	.|0.994	D|D	0.96450|0.96450	0.9333|0.9333	5|10	.|0.87932	.|D	.|0	-7.7754|-7.7754	13.2781|13.2781	0.60198|0.60198	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|625	.|Q5GH73	.|XKR6_HUMAN	E|D	401|346;625	.|ENSP00000307120:Y346D;ENSP00000416707:Y625D	.|ENSP00000307120:Y346D	D|Y	-|-	3|1	2|0	XKR6|XKR6	10792925|10792925	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.123000|9.123000	0.94387|0.94387	1.911000|1.911000	0.55334|0.55334	0.449000|0.449000	0.29647|0.29647	GAT|TAT		0.468	XKR6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383958.1	NM_173683		C	10755515	A	C	10755515	3	2	738	1	0	0	0	0	1	0	0	0	17440	449	16	5	56	5	XKR6	8	10755515	Missense_Mutation	SNP	A	TCGA-KN-8432-01A-11D-2310-10		10755515	135608507	60	42842											
INTS10	55174	broad.mit.edu	37	8	19680921	19680921	+	Silent	SNP	T	T	C			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr8:19680921T>C	ENST00000397977.3	+	6	1031	c.633T>C	c.(631-633)acT>acC	p.T211T		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	211					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)		ATTATGTCACTAGGTCTACTC	0.323																																																0													93	87	89					8																	19680921		1824	4075	5899	SO:0001819	synonymous_variant	55174			AK001431	CCDS6011.2	8p21.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000104613	ENSG00000104613			25548	protein-coding gene	gene with protein product		611353	"chromosome 8 open reading frame 35"	C8orf35		16239144	Standard	XM_005273558		Approved	FLJ10569, INT10	uc003wzj.3	Q9NVR2	OTTHUMG00000131065	ENST00000397977.3:c.633T>C	8.37:g.19680921T>C			Q6IA93|Q7L538|Q7L8C8|Q9H3W8	Silent	SNP	ENST00000397977.3	37	CCDS6011.2	.	.	.	.	.	.	.	.	.	.	T	9.641	1.138867	0.21123	.	.	ENSG00000104613	ENST00000523846	.	.	.	5.38	-3.37	0.04898	.	.	.	.	.	T	0.39809	0.1092	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34453	-0.9828	4	.	.	.	-18.7854	2.7856	0.05373	0.1213:0.3811:0.2493:0.2483	.	.	.	.	P	8	.	.	L	+	2	0	INTS10	19725201	0.444000	0.25649	0.939000	0.37840	0.952000	0.60782	-0.305000	0.08188	-0.481000	0.06792	0.379000	0.24179	CTA		0.323	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253724.2	NM_018142		C	19680921	T	C	19680921	2	2	738	1	0	0	0	0	0	0	0	1	7778	1509	53	3		3	INTS10	8	19680921	Silent	SNP	T	TCGA-KN-8432-01A-11D-2310-10	8925406	19680921	126683101	61	42843											
KIAA1429	25962	broad.mit.edu;bcgsc.ca	37	8	95539559	95539559	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr8:95539559C>T	ENST00000297591.5	-	8	988	c.913G>A	c.(913-915)Gaa>Aaa	p.E305K	KIAA1429_ENST00000437199.1_Missense_Mutation_p.E305K|KIAA1429_ENST00000421249.2_Missense_Mutation_p.E305K	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	305	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)			ATTCCATCTTCATCACTGGAA	0.318																																																0													54	54	54					8																	95539559		2203	4300	6503	SO:0001583	missense	25962			AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 121"					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.913G>A	8.37:g.95539559C>T	ENSP00000297591:p.Glu305Lys		Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	ENST00000297591.5	37	CCDS34923.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.584510	0.86748	.	.	ENSG00000164944	ENST00000297591;ENST00000437199;ENST00000421249	T;T;T	0.55052	0.56;0.57;0.54	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.72811	0.3507	M	0.66939	2.045	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.76071	0.987;0.987	T	0.73997	-0.3806	10	0.72032	D	0.01	-17.3179	19.8292	0.96628	0.0:1.0:0.0:0.0	.	305;305	Q69YN4-4;Q69YN4	.;VIR_HUMAN	K	305	ENSP00000297591:E305K;ENSP00000395600:E305K;ENSP00000398390:E305K	ENSP00000297591:E305K	E	-	1	0	KIAA1429	95608735	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.689000	0.91719	0.491000	0.48974	GAA		0.318	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		T	95539559	C	T	95539559	3	4	738	1	0	0	0	0	1	0	0	0	8233	835	29	2	4647	2	KIAA1429	8	95539559	Missense_Mutation	SNP	C	TCGA-KN-8432-01A-11D-2310-10	75858638	95539559	50824463	62	42844											
STK3	6788	ucsc.edu	37	8	99779547	99779547	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr8:99779547C>T	ENST00000419617.2	-	3	300	c.160G>A	c.(160-162)Gca>Aca	p.A54T	STK3_ENST00000523601.1_Missense_Mutation_p.A82T	NM_006281.3	NP_006272.2	Q13188	STK3_HUMAN	serine/threonine kinase 3	54	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell differentiation involved in embryonic placenta development (GO:0060706)|central nervous system development (GO:0007417)|endocardium development (GO:0003157)|hepatocyte apoptotic process (GO:0097284)|hippo signaling (GO:0035329)|intracellular signal transduction (GO:0035556)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of organ growth (GO:0046621)|neural tube formation (GO:0001841)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|primitive hemopoiesis (GO:0060215)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein dimerization activity (GO:0046983)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)	p.A54T(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)		TGTTTAATTGCGACAACTTGA	0.323																																																1	Substitution - Missense(1)	large_intestine(1)											108	100	103					8																	99779547		1877	4142	6019	SO:0001583	missense	6788			BC010640	CCDS47900.1, CCDS59108.1, CCDS75774.1	8q22.2	2011-05-24	2010-06-25		ENSG00000104375	ENSG00000104375			11406	protein-coding gene	gene with protein product		605030	"serine/threonine kinase 3 (Ste20, yeast homolog)"			8816758	Standard	NM_006281		Approved	MST2, KRS1	uc003yip.4	Q13188	OTTHUMG00000164651	ENST00000419617.2:c.160G>A	8.37:g.99779547C>T	ENSP00000390500:p.Ala54Thr		A8K722|B3KYA7|Q15445|Q15801|Q96FM6	Missense_Mutation	SNP	ENST00000419617.2	37	CCDS47900.1	.	.	.	.	.	.	.	.	.	.	C	34	5.319913	0.95682	.	.	ENSG00000104375	ENST00000419617;ENST00000523601;ENST00000518165	T;T;T	0.41758	0.99;0.99;1.53	5.67	5.67	0.87782	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	0.77308	0.4111	H	0.95950	3.745	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77004	0.978;0.989;0.985	D	0.84472	0.0600	10	0.87932	D	0	.	19.7782	0.96405	0.0:1.0:0.0:0.0	.	54;54;82	E5RFQ9;Q13188;B3KYA7	.;STK3_HUMAN;.	T	54;82;54	ENSP00000390500:A54T;ENSP00000429744:A82T;ENSP00000428014:A54T	ENSP00000390500:A54T	A	-	1	0	STK3	99848723	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.776000	0.85560	2.667000	0.90743	0.561000	0.74099	GCA		0.323	STK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379635.1	NM_006281		T	99779547	C	T	99779547	3	4	738	1	0	0	0	0	1	0	0	0	15300	768	27	1	1351	1	STK3	8	99779547	Missense_Mutation	SNP	C	TCGA-KN-8432-01A-11D-2310-10	4239988	99779547	46584475	63	42845											
VPS13B	157680	ucsc.edu;bcgsc.ca	37	8	100533136	100533136	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr8:100533136C>T	ENST00000358544.2	+	30	4829	c.4718C>T	c.(4717-4719)gCa>gTa	p.A1573V	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.A1548V	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1573					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)			GCTAATCAGGCAGCAAAAGAA	0.418																																					Colon(161;2205 2542 7338 31318)											0													126	113	117					8																	100533136		2203	4300	6503	SO:0001583	missense	157680			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"Cohen syndrome 1"	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.4718C>T	8.37:g.100533136C>T	ENSP00000351346:p.Ala1573Val		C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	CCDS6280.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.90|10.90	1.480516|1.480516	0.26598|0.26598	.|.	.|.	ENSG00000132549|ENSG00000132549	ENST00000357162;ENST00000358544|ENST00000521559	T;T|.	0.69685|.	-0.42;-0.41|.	5.65|5.65	3.78|3.78	0.43462|0.43462	.|.	0.685114|.	0.14477|.	N|.	0.317196|.	T|.	0.38746|.	0.1052|.	L|L	0.44542|0.44542	1.39|1.39	0.09310|0.09310	N|N	0.999991|0.999991	B;B|.	0.19200|.	0.034;0.02|.	B;B|.	0.18561|.	0.022;0.01|.	T|.	0.21484|.	-1.0244|.	10|.	0.30854|.	T|.	0.27|.	.|.	8.2142|8.2142	0.31501|0.31501	0.3052:0.6236:0.0:0.0712|0.3052:0.6236:0.0:0.0712	.|.	1548;1573|.	Q7Z7G8-2;Q7Z7G8|.	.;VP13B_HUMAN|.	V|X	1548;1573|4	ENSP00000349685:A1548V;ENSP00000351346:A1573V|.	ENSP00000349685:A1548V|.	A|Q	+|+	2|1	0|0	VPS13B|VPS13B	100602312|100602312	1.000000|1.000000	0.71417|0.71417	0.780000|0.780000	0.31762|0.31762	0.896000|0.896000	0.52359|0.52359	2.548000|2.548000	0.45794|0.45794	0.648000|0.648000	0.30732|0.30732	0.557000|0.557000	0.71058|0.71058	GCA|CAG		0.418	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		T	100533136	C	T	100533136	3	4	738	1	0	0	0	0	1	0	0	0	17195	710	25	2	5026	2	VPS13B	8	100533136	Missense_Mutation	SNP	C	TCGA-KN-8432-01A-11D-2310-10	753589	100533136	45830886	64	42846											
TG	7038	ucsc.edu	37	8	133911147	133911147	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr8:133911147T>C	ENST00000220616.4	+	14	3362	c.3322T>C	c.(3322-3324)Tgc>Cgc	p.C1108R	TG_ENST00000377869.1_Missense_Mutation_p.C1108R	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1108	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)		CGTCCCAGCCTGCCTAGAAGT	0.493																																																0													54	45	48					8																	133911147		2203	4300	6503	SO:0001583	missense	7038			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.3322T>C	8.37:g.133911147T>C	ENSP00000220616:p.Cys1108Arg		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.81|16.81	3.226747|3.226747	0.58668|0.58668	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000377869;ENST00000220616|ENST00000543313	D;D|.	0.87491|.	-2.26;-2.26|.	5.74|5.74	5.74|5.74	0.90152|0.90152	Thyroglobulin type-1 (6);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.73721|0.73721	0.3623|0.3623	M|M	0.75264|0.75264	2.295|2.295	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.79108|.	0.992|.	T|T	0.74578|0.74578	-0.3619|-0.3619	10|5	0.87932|.	D|.	0|.	.|.	13.4199|13.4199	0.60992|0.60992	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1108|.	P01266|.	THYG_HUMAN|.	R|P	1108|15	ENSP00000367100:C1108R;ENSP00000220616:C1108R|.	ENSP00000220616:C1108R|.	C|L	+|+	1|2	0|0	TG|TG	133980329|133980329	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.437000|0.437000	0.31866|0.31866	4.466000|4.466000	0.60148|0.60148	2.182000|2.182000	0.69389|0.69389	0.533000|0.533000	0.62120|0.62120	TGC|CTG		0.493	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		C	133911147	T	C	133911147	3	2	738	1	0	0	0	0	1	0	0	0	15818	1580	55	3	3376	3	TG	8	133911147	Missense_Mutation	SNP	T	TCGA-KN-8432-01A-11D-2310-10	33378011	133911147	12452875	65	42847											
BAI1	575	ucsc.edu;bcgsc.ca	37	8	143603450	143603450	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr8:143603450G>A	ENST00000517894.1	+	21	4043	c.3149G>A	c.(3148-3150)cGc>cAc	p.R1050H	BAI1_ENST00000323289.5_Missense_Mutation_p.R1050H			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1050					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)					CGCCTCATCCGCAAGCGCTTC	0.652																																																0													30	40	37					8																	143603450		2200	4299	6499	SO:0001583	missense	575			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.3149G>A	8.37:g.143603450G>A	ENSP00000430945:p.Arg1050His			Missense_Mutation	SNP	ENST00000517894.1	37		.	.	.	.	.	.	.	.	.	.	G	28.6	4.933063	0.92458	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.39787	1.06;1.06	3.78	3.78	0.43462	.	0.156800	0.43110	U	0.000612	T	0.51024	0.1650	L	0.46947	1.48	0.58432	D	0.999997	D	0.60160	0.987	P	0.56648	0.803	T	0.57493	-0.7802	10	0.87932	D	0	.	14.6053	0.68475	0.0:0.0:1.0:0.0	.	1050	E9PBK0	.	H	1050	ENSP00000430945:R1050H;ENSP00000313046:R1050H	ENSP00000313046:R1050H	R	+	2	0	BAI1	143600452	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	7.618000	0.83043	1.641000	0.50575	0.305000	0.20034	CGC		0.652	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		A	143603450	G	A	143603450	3	1	738	1	0	0	0	0	1	0	0	0	1298	1087	38	1	3227	1	BAI1	8	143603450	Missense_Mutation	SNP	G	TCGA-KN-8432-01A-11D-2310-10	9692303	143603450	2760572	66	42848											
TYRP1	7306	broad.mit.edu;mdanderson.org;bcgsc.ca	37	9	12695641	12695641	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr9:12695641G>A	ENST00000388918.5	+	3	641	c.512G>A	c.(511-513)gGg>gAg	p.G171E	TYRP1_ENST00000381136.2_5'Flank|TYRP1_ENST00000381137.2_5'UTR	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	171					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)			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)		GAAATACTGGGGCCAGATGGC	0.433									Oculocutaneous Albinism																																							0													110	104	106					9																	12695641		2203	4300	6503	SO:0001583	missense	7306	Familial Cancer Database		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.512G>A	9.37:g.12695641G>A	ENSP00000373570:p.Gly171Glu		P78468|P78469|Q13721|Q15679	Missense_Mutation	SNP	ENST00000388918.5	37	CCDS34990.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.532938	0.85812	.	.	ENSG00000107165	ENST00000388918	D	0.85484	-1.99	5.5	5.5	0.81552	Uncharacterised domain, di-copper centre (2);	0.097018	0.64402	D	0.000001	D	0.90614	0.7057	M	0.83384	2.64	0.80722	D	1	D	0.54601	0.967	P	0.56434	0.798	D	0.91438	0.5171	10	0.72032	D	0.01	-9.7978	13.0431	0.58910	0.0739:0.0:0.9261:0.0	.	171	P17643	TYRP1_HUMAN	E	171	ENSP00000373570:G171E	ENSP00000373570:G171E	G	+	2	0	TYRP1	12685641	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.632000	0.83247	2.739000	0.93911	0.467000	0.42956	GGG		0.433	TYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055502.3	NM_000550		A	12695641	G	A	12695641	3	1	738	1	0	0	0	0	1	0	0	0	16821	1232	43	2	518	2	TYRP1	9	12695641	Missense_Mutation	SNP	G	TCGA-KN-8432-01A-11D-2310-10		12695641	128517790	67	42849											
PRSS3	5646	mdanderson.org	37	9	33797978	33797978	+	Missense_Mutation	SNP	G	G	A	rs145485932		TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr9:33797978G>A	ENST00000361005.5	+	3	523	c.523G>A	c.(523-525)Gtc>Atc	p.V175I	PRSS3_ENST00000342836.4_Missense_Mutation_p.V132I|PRSS3_ENST00000429677.3_Missense_Mutation_p.V111I|RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000379405.3_Missense_Mutation_p.V118I	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3	175	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)			CTCACCTGCCGTCATCAATGC	0.562																																																0													252	190	211					9																	33797978		2203	4300	6503	SO:0001583	missense	5646				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.523G>A	9.37:g.33797978G>A	ENSP00000354280:p.Val175Ile		A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	Missense_Mutation	SNP	ENST00000361005.5	37	CCDS47958.1	13	0.005952380952380952	5	0.01016260162601626	4	0.011049723756906077	0	0.0	4	0.005277044854881266	G	9.092	1.002042	0.19121	.	.	ENSG00000010438	ENST00000361005;ENST00000457896;ENST00000342836;ENST00000429677;ENST00000379405	D;D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39;-2.39	3.62	-4.24	0.03777	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	2.578480	0.00881	N	0.002127	T	0.75273	0.3827	L	0.28458	0.855	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	0.63422	-0.6641	10	0.41790	T	0.15	.	4.242	0.10652	0.4472:0.0:0.3013:0.2515	.	118;175;132	P35030-3;P35030;P35030-4	.;TRY3_HUMAN;.	I	175;130;132;111;118	ENSP00000354280:V175I;ENSP00000401249:V130I;ENSP00000340889:V132I;ENSP00000401828:V111I;ENSP00000368715:V118I	ENSP00000340889:V132I	V	+	1	0	PRSS3	33787978	0.000000	0.05858	0.000000	0.03702	0.050000	0.14768	-2.290000	0.01148	-0.947000	0.03673	-0.643000	0.03959	GTC		0.562	PRSS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052121.1	NM_002771		A	33797978	G	A	33797978	3	1	738	1	0	0	0	0	1	0	0	0	12627	1145	40	1	577	1	PRSS3	9	33797978	Missense_Mutation	SNP	G	TCGA-KN-8432-01A-11D-2310-10	21102337	33797978	107415453	68	42850											
CORO2A	7464	broad.mit.edu;bcgsc.ca	37	9	100888937	100888937	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr9:100888937T>C	ENST00000343933.5	-	11	1597	c.1340A>G	c.(1339-1341)gAg>gGg	p.E447G	CORO2A_ENST00000375077.4_Missense_Mutation_p.E447G	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	447					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)				TGGCATCTTCTCCTCCAACAG	0.542																																																0													142	145	144					9																	100888937		2203	4300	6503	SO:0001583	missense	7464			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.1340A>G	9.37:g.100888937T>C	ENSP00000343746:p.Glu447Gly		Q5TBR5|Q92829|Q9BWS5	Missense_Mutation	SNP	ENST00000343933.5	37	CCDS6735.1	.	.	.	.	.	.	.	.	.	.	T	8.352	0.831191	0.16820	.	.	ENSG00000106789	ENST00000343933;ENST00000375077	T;T	0.72835	-0.69;-0.69	5.36	1.71	0.24356	.	0.368808	0.29602	N	0.011696	T	0.59018	0.2163	L	0.52573	1.65	0.36267	D	0.854913	B;B	0.26318	0.146;0.146	B;B	0.24974	0.057;0.038	T	0.53294	-0.8459	10	0.27082	T	0.32	-17.8995	7.7838	0.29080	0.0:0.2385:0.0:0.7615	.	447;447	Q92828;A8K9S3	COR2A_HUMAN;.	G	447	ENSP00000343746:E447G;ENSP00000364218:E447G	ENSP00000343746:E447G	E	-	2	0	CORO2A	99928758	0.311000	0.24536	0.926000	0.36857	0.170000	0.22686	1.294000	0.33365	0.048000	0.15891	0.418000	0.28097	GAG		0.542	CORO2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053357.1	NM_003389		C	100888937	T	C	100888937	3	2	738	1	0	0	0	0	1	0	0	0	3758	1551	54	3	245	3	CORO2A	9	100888937	Missense_Mutation	SNP	T	TCGA-KN-8432-01A-11D-2310-10	67090959	100888937	40324494	69	42851											
RAD23B	5887	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	9	110068852	110068852	+	Missense_Mutation	SNP	A	A	T			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr9:110068852A>T	ENST00000358015.3	+	4	772	c.421A>T	c.(421-423)Agt>Tgt	p.S141C	RAD23B_ENST00000416373.2_Missense_Mutation_p.S69C	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN	RAD23 homolog B (S. cerevisiae)	141					DNA repair (GO:0006281)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|XPC complex (GO:0071942)	damaged DNA binding (GO:0003684)|polyubiquitin binding (GO:0031593)|single-stranded DNA binding (GO:0003697)			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						TGCACCTGCTAGTGCAGCTAA	0.552								Direct reversal of damage;Nucleotide excision repair (NER)																																								0													69	68	68					9																	110068852		2203	4300	6503	SO:0001583	missense	5887				CCDS6769.1, CCDS59138.1	9q31.2	2008-07-21	2001-11-28		ENSG00000119318	ENSG00000119318			9813	protein-coding gene	gene with protein product	"XP-C repair complementing protein", "XP-C repair complementing complex 58 kDa"	600062	"RAD23 (S. cerevisiae) homolog B"			7851894, 8168482	Standard	NM_002874		Approved	HHR23B, P58, HR23B	uc004bde.3	P54727	OTTHUMG00000020446	ENST00000358015.3:c.421A>T	9.37:g.110068852A>T	ENSP00000350708:p.Ser141Cys		B3KWK8|G5E9P0|Q7Z5K8|Q8WUB0	Missense_Mutation	SNP	ENST00000358015.3	37	CCDS6769.1	.	.	.	.	.	.	.	.	.	.	A	19.41	3.821602	0.71028	.	.	ENSG00000119318	ENST00000419616;ENST00000358015;ENST00000374678;ENST00000416373	T;T;T	0.48836	0.8;2.16;2.12	5.61	3.31	0.37934	.	0.388826	0.31188	N	0.008099	T	0.43787	0.1263	L	0.47716	1.5	0.34108	D	0.662702	P;D;P	0.57257	0.454;0.979;0.454	B;P;B	0.46975	0.241;0.533;0.159	T	0.59941	-0.7359	10	0.66056	D	0.02	-12.6394	8.892	0.35439	0.8468:0.0:0.1532:0.0	.	120;141;141	B7Z4W4;B4DEA3;P54727	.;.;RD23B_HUMAN	C	141;141;69;69	ENSP00000416868:S141C;ENSP00000350708:S141C;ENSP00000405623:S69C	ENSP00000350708:S141C	S	+	1	0	RAD23B	109108673	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.045000	0.49838	0.969000	0.38237	0.460000	0.39030	AGT		0.552	RAD23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053548.1	NM_002874		T	110068852	A	T	110068852	3	4	738	1	0	0	0	0	1	0	0	0	12989	420	15	5	435	5	RAD23B	9	110068852	Missense_Mutation	SNP	A	TCGA-KN-8432-01A-11D-2310-10	9179915	110068852	31144579	70	42852											
PITRM1	10531	bcgsc.ca	37	10	3186494	3186494	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr10:3186494T>C	ENST00000224949.4	-	22	2556	c.2522A>G	c.(2521-2523)aAg>aGg	p.K841R	PITRM1-AS1_ENST00000441377.1_RNA|PITRM1_ENST00000380994.1_Missense_Mutation_p.K399R|PITRM1_ENST00000451104.2_Missense_Mutation_p.K743R|PITRM1_ENST00000380989.2_Missense_Mutation_p.K842R|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000464395.1_5'UTR			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	841					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						CATGACCAGCTTCCTAATGAC	0.542																																																0													28	34	32					10																	3186494		1976	4136	6112	SO:0001583	missense	10531			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.2522A>G	10.37:g.3186494T>C	ENSP00000224949:p.Lys841Arg		B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Missense_Mutation	SNP	ENST00000224949.4	37	CCDS59208.1	.	.	.	.	.	.	.	.	.	.	t	9.334	1.061380	0.19987	.	.	ENSG00000107959	ENST00000224949;ENST00000380980;ENST00000380989;ENST00000380994;ENST00000451104;ENST00000455371;ENST00000424714	T;T;T;T;T;T	0.56275	3.12;3.12;3.12;3.12;1.72;0.47	4.63	3.49	0.39957	Peptidase M16, C-terminal (1);	0.095516	0.64402	D	0.000001	T	0.42539	0.1207	L	0.42245	1.32	0.36616	D	0.8755	B;B;B;B;B	0.26120	0.002;0.007;0.142;0.142;0.019	B;B;B;B;B	0.31686	0.007;0.021;0.134;0.134;0.038	T	0.40869	-0.9540	10	0.31617	T	0.26	-29.364	7.2853	0.26335	0.0:0.1041:0.0:0.8959	.	834;743;842;841;834	E9PDX6;E7ES23;C9JSL2;Q5JRX3;B4DH07	.;.;.;PREP_HUMAN;.	R	841;834;842;399;743;22;60	ENSP00000224949:K841R;ENSP00000370377:K842R;ENSP00000370382:K399R;ENSP00000401201:K743R;ENSP00000399307:K22R;ENSP00000402072:K60R	ENSP00000224949:K841R	K	-	2	0	PITRM1	3176494	1.000000	0.71417	0.962000	0.40283	0.031000	0.12232	1.381000	0.34362	0.880000	0.35969	0.379000	0.24179	AAG		0.542	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046469.2			C	3186494	T	C	3186494	3	2	738	1	0	0	0	0	1	0	0	0	11955	1609	56	3	615	3	PITRM1	10	3186494	Missense_Mutation	SNP	T	TCGA-KN-8432-01A-11D-2310-10		3186494	132348253	71	42853											
FAM21C	253725	broad.mit.edu;mdanderson.org	37	10	46248632	46248632	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr10:46248632A>G	ENST00000336378.4	+	13	1245	c.1127A>G	c.(1126-1128)gAc>gGc	p.D376G	FAM21C_ENST00000359860.4_Missense_Mutation_p.D320G|FAM21C_ENST00000374362.2_Missense_Mutation_p.D376G|FAM21C_ENST00000537517.1_Missense_Mutation_p.D352G|FAM21C_ENST00000540872.1_Missense_Mutation_p.D376G	NM_015262.2	NP_056077.2	Q9Y4E1	FA21C_HUMAN	family with sequence similarity 21, member C	376					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome (GO:0005768)|plasma membrane (GO:0005886)|WASH complex (GO:0071203)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						AACCAGAGTGACCTCTTCACG	0.473																																																0													37	40	39					10																	46248632		1230	3396	4626	SO:0001583	missense	253725				CCDS44374.1, CCDS44374.2, CCDS53528.1, CCDS53529.1	10q11.22	2014-05-09			ENSG00000172661	ENSG00000172661			23414	protein-coding gene	gene with protein product		613631				20498093	Standard	NM_015262		Approved	Em:AC012044.3, KIAA0592	uc001jcu.3	Q9Y4E1	OTTHUMG00000018089	ENST00000336378.4:c.1127A>G	10.37:g.46248632A>G	ENSP00000337541:p.Asp376Gly		B4DZQ6|B9EK53|F5H0J6|F5H871|Q5SQU4|Q5SQU5|Q7L521|Q9UG79	Missense_Mutation	SNP	ENST00000336378.4	37		.	.	.	.	.	.	.	.	.	.	A	16.46	3.128197	0.56721	.	.	ENSG00000172661	ENST00000336378;ENST00000540872;ENST00000537517;ENST00000374362;ENST00000399588;ENST00000359860;ENST00000436993	.	.	.	3.23	3.23	0.37069	.	0.000000	0.85682	D	0.000000	T	0.69593	0.3128	M	0.71581	2.175	0.50813	D	0.999894	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	D;D;D;D	0.97110	0.995;1.0;1.0;0.999	T	0.67998	-0.5525	9	0.37606	T	0.19	-18.0159	8.1116	0.30917	1.0:0.0:0.0:0.0	.	352;376;376;321	F5H871;Q9Y4E1-4;Q9Y4E1;Q9Y4E1-3	.;.;FA21C_HUMAN;.	G	376;376;352;376;376;320;288	.	ENSP00000337541:D376G	D	+	2	0	FAM21C	45568638	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	3.870000	0.56070	1.486000	0.48398	0.491000	0.48974	GAC		0.473	FAM21C-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				G	46248632	A	G	46248632	3	3	738	1	0	0	0	0	1	0	0	0	5544	275	10	3	1177	3	FAM21C	10	46248632	Missense_Mutation	SNP	A	TCGA-KN-8432-01A-11D-2310-10	43062138	46248632	89286115	72	42854											
PLCE1	51196	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	10	95891977	95891977	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr10:95891977C>T	ENST00000371380.3	+	2	1488	c.1253C>T	c.(1252-1254)tCt>tTt	p.S418F	PLCE1_ENST00000371375.1_Missense_Mutation_p.S110F|PLCE1_ENST00000260766.3_Missense_Mutation_p.S418F|PLCE1_ENST00000371385.3_Missense_Mutation_p.S110F			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	418					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)				ACAGTTGGATCTCTACTCCAT	0.428																																																0													131	133	133					10																	95891977		2003	4165	6168	SO:0001583	missense	51196				CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"nephrosis type 3"	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.1253C>T	10.37:g.95891977C>T	ENSP00000360431:p.Ser418Phe		A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.157637	0.38119	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68	5.08	4.11	0.48088	Ras guanine nucleotide exchange factor, domain (1);	0.773966	0.11722	N	0.535812	T	0.51041	0.1651	N	0.24115	0.695	0.29947	N	0.820542	B;B;B	0.14438	0.003;0.01;0.001	B;B;B	0.13407	0.002;0.009;0.002	T	0.43523	-0.9386	10	0.10902	T	0.67	.	6.5663	0.22513	0.2799:0.6291:0.0:0.091	.	418;110;418	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	F	418;418;110;110	ENSP00000260766:S418F;ENSP00000360431:S418F;ENSP00000360438:S110F;ENSP00000360426:S110F	ENSP00000260766:S418F	S	+	2	0	PLCE1	95881967	0.999000	0.42202	1.000000	0.80357	0.926000	0.56050	1.272000	0.33109	2.512000	0.84698	0.563000	0.77884	TCT		0.428	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		T	95891977	C	T	95891977	3	4	738	1	0	0	0	0	1	0	0	0	12036	913	32	2	1545	2	PLCE1	10	95891977	Missense_Mutation	SNP	C	TCGA-KN-8432-01A-11D-2310-10	49643345	95891977	39642770	73	42855											
UBQLN3	50613	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	11	5530008	5530008	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr11:5530008T>C	ENST00000311659.4	-	2	928	c.781A>G	c.(781-783)Att>Gtt	p.I261V	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	261										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGTCCATAATATCTGTGTAC	0.517																																					Ovarian(72;684 1260 12332 41642 52180)											0													112	101	105					11																	5530008		2201	4297	6498	SO:0001583	missense	50613			AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"Ubiquilin family"	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.781A>G	11.37:g.5530008T>C	ENSP00000347997:p.Ile261Val		Q9NRE0	Missense_Mutation	SNP	ENST00000311659.4	37	CCDS7758.1	.	.	.	.	.	.	.	.	.	.	t	13.37	2.216064	0.39201	.	.	ENSG00000175520	ENST00000311659	T	0.35789	1.29	5.63	4.49	0.54785	.	0.149702	0.30901	N	0.008646	T	0.22627	0.0546	N	0.16656	0.425	0.32801	D	0.500105	B	0.10296	0.003	B	0.12837	0.008	T	0.17379	-1.0371	10	0.45353	T	0.12	-9.1027	10.2748	0.43504	0.0:0.0823:0.0:0.9177	.	261	Q9H347	UBQL3_HUMAN	V	261	ENSP00000347997:I261V	ENSP00000347997:I261V	I	-	1	0	UBQLN3	5486584	0.997000	0.39634	1.000000	0.80357	0.980000	0.70556	1.572000	0.36461	2.262000	0.75019	0.478000	0.44815	ATT		0.517	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481		C	5530008	T	C	5530008	3	2	738	1	0	0	0	0	1	0	0	0	16903	1406	49	3	1190	3	UBQLN3	11	5530008	Missense_Mutation	SNP	T	TCGA-KN-8432-01A-11D-2310-10		5530008	129476508	74	42856											
OR52N1	79473	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	11	5809593	5809593	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr11:5809593G>A	ENST00000317078.1	-	1	453	c.454C>T	c.(454-456)Ctt>Ttt	p.L152F	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	152						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		ACACCCCTAAGAAAAGTGAGG	0.522																																																0													121	104	110					11																	5809593		2201	4296	6497	SO:0001583	missense	79473			AB065538	CCDS31398.1	11p15.4	2012-08-09			ENSG00000181001	ENSG00000181001		"GPCR / Class A : Olfactory receptors"	14853	protein-coding gene	gene with protein product							Standard	NM_001001913		Approved		uc010qzo.2	Q8NH53	OTTHUMG00000168800	ENST00000317078.1:c.454C>T	11.37:g.5809593G>A	ENSP00000322823:p.Leu152Phe		Q6IFF6	Missense_Mutation	SNP	ENST00000317078.1	37	CCDS31398.1	.	.	.	.	.	.	.	.	.	.	G	1.194	-0.634327	0.03584	.	.	ENSG00000181001	ENST00000317078	T	0.41758	0.99	4.59	2.53	0.30540	GPCR, rhodopsin-like superfamily (1);	0.498524	0.16680	N	0.203974	T	0.33352	0.0860	L	0.48877	1.53	0.09310	N	1	B	0.18968	0.032	B	0.27170	0.077	T	0.25187	-1.0139	10	0.35671	T	0.21	.	5.4489	0.16552	0.1029:0.0:0.4403:0.4568	.	152	Q8NH53	O52N1_HUMAN	F	152	ENSP00000322823:L152F	ENSP00000322823:L152F	L	-	1	0	OR52N1	5766169	0.000000	0.05858	0.033000	0.17914	0.082000	0.17680	-2.660000	0.00851	0.531000	0.28639	-0.466000	0.05196	CTT		0.522	OR52N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401142.1	NM_001001913		A	5809593	G	A	5809593	3	1	738	1	0	0	0	0	1	0	0	0	11129	942	33	2	511	2	OR52N1	11	5809593	Missense_Mutation	SNP	G	TCGA-KN-8432-01A-11D-2310-10	279585	5809593	129196923	75	42857											
OR1S2	219958	mdanderson.org	37	11	57970981	57970981	+	Missense_Mutation	SNP	C	C	T	rs11229278|rs34249289	byFrequency	TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr11:57970981C>T	ENST00000302592.6	-	1	672	c.673G>A	c.(673-675)Gta>Ata	p.V225I		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	225			V -> A (in dbSNP:rs11229277).|V -> I (in dbSNP:rs11229278).			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)				AAGATGAGTACAAAGGGGAAG	0.458													C|||	426	0.0850639	0.0265	0.1138	5008	,	,		23191	0.0556		0.1083	False		,,,				2504	0.1503															0													165	137	146					11																	57970981		2201	4296	6497	SO:0001583	missense	219958			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.673G>A	11.37:g.57970981C>T	ENSP00000305469:p.Val225Ile		Q6IFG5|Q96R85	Missense_Mutation	SNP	ENST00000302592.6	37	CCDS31545.1	109	0.04990842490842491	13	0.026422764227642278	27	0.07458563535911603	19	0.033216783216783216	50	0.06596306068601583	C	0.180	-1.063021	0.01950	.	.	ENSG00000197887	ENST00000302592	T	0.36699	1.24	4.75	2.83	0.33086	GPCR, rhodopsin-like superfamily (1);	0.471664	0.17897	N	0.158338	T	0.01387	0.0045	N	0.05383	-0.06	0.80722	P	0.0	B	0.14805	0.011	B	0.23852	0.049	T	0.12426	-1.0548	9	0.17369	T	0.5	.	12.7854	0.57502	0.2978:0.7022:0.0:0.0	rs11229278;rs52811080;rs11229278	225	Q8NGQ3	OR1S2_HUMAN	I	225	ENSP00000305469:V225I	ENSP00000305469:V225I	V	-	1	0	OR1S2	57727557	0.000000	0.05858	0.426000	0.26672	0.853000	0.48598	-1.185000	0.03073	0.691000	0.31592	0.655000	0.94253	GTA		0.458	OR1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394703.2	NM_001004459		T	57970981	C	T	57970981	3	4	738	1	0	0	0	0	1	0	0	0	10975	478	17	2	307	2	OR1S2	11	57970981	Missense_Mutation	SNP	C	TCGA-KN-8432-01A-11D-2310-10	52161388	57970981	77035535	76	42858											
FERMT3	83706	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	11	63988121	63988121	+	Nonsense_Mutation	SNP	C	C	T	rs121918295		TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr11:63988121C>T	ENST00000279227.5	+	12	1632	c.1537C>T	c.(1537-1539)Cga>Tga	p.R513*	FERMT3_ENST00000345728.5_Nonsense_Mutation_p.R509*	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	513	FERM.				integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|platelet aggregation (GO:0070527)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|podosome (GO:0002102)	integrin binding (GO:0005178)			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						CCGTTTCCAGCGAAAGTTCAA	0.652																																																0													15	14	14					11																	63988121		2195	4291	6486	SO:0001587	stop_gained	83706			L25343	CCDS8059.1, CCDS8060.1	11q13.1	2014-09-17	2010-06-24		ENSG00000149781	ENSG00000149781		"Fermitins", "Pleckstrin homology (PH) domain containing"	23151	protein-coding gene	gene with protein product	"kindlin-3"	607901	"fermitin family homolog 3 (Drosophila)"				Standard	NM_178443		Approved	URP2, KIND3, MIG2B, MGC10966, MIG-2, UNC112C	uc001nym.2	Q86UX7	OTTHUMG00000167790	ENST00000279227.5:c.1537C>T	11.37:g.63988121C>T	ENSP00000279227:p.Arg513*		Q8IUA1|Q8N207|Q9BT48	Nonsense_Mutation	SNP	ENST00000279227.5	37	CCDS8060.1	.	.	.	.	.	.	.	.	.	.	C	36	5.881654	0.97062	.	.	ENSG00000149781	ENST00000345728;ENST00000279227	.	.	.	4.21	3.29	0.37713	.	0.071181	0.53938	D	0.000043	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-14.009	10.2263	0.43227	0.4891:0.5109:0.0:0.0	.	.	.	.	X	509;513	.	ENSP00000279227:R513X	R	+	1	2	FERMT3	63744697	1.000000	0.71417	0.995000	0.50966	0.878000	0.50629	3.997000	0.57016	1.108000	0.41662	0.491000	0.48974	CGA		0.652	FERMT3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396297.1	NM_031471		T	63988121	C	T	63988121	4	4	738	1	0	0	0	0	0	1	0	0	5821	760	27	1	1579	1	FERMT3	11	63988121	Nonsense_Mutation	SNP	C	TCGA-KN-8432-01A-11D-2310-10	6017140	63988121	71018395	77	42859											
ATG2A	23130	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	11	64676833	64676833	+	Missense_Mutation	SNP	T	T	C	rs148849835		TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr11:64676833T>C	ENST00000377264.3	-	15	2226	c.2114A>G	c.(2113-2115)tAt>tGt	p.Y705C	ATG2A_ENST00000421419.2_Missense_Mutation_p.Y705C	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	705					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						TCCATCTTCATAGATACCTGG	0.587																																																0													42	41	41					11																	64676833		2201	4295	6496	SO:0001583	missense	23130				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.2114A>G	11.37:g.64676833T>C	ENSP00000366475:p.Tyr705Cys		O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	ENST00000377264.3	37	CCDS31602.1	.	.	.	.	.	.	.	.	.	.	T	16.85	3.235828	0.58886	.	.	ENSG00000110046	ENST00000421419;ENST00000377264	T;T	0.11063	2.81;2.81	5.3	5.3	0.74995	.	0.325293	0.29722	N	0.011371	T	0.27765	0.0683	L	0.55481	1.735	0.52099	D	0.999942	D	0.76494	0.999	D	0.73380	0.98	T	0.00807	-1.1558	10	0.87932	D	0	.	13.511	0.61513	0.0:0.0:0.0:1.0	.	705	Q2TAZ0	ATG2A_HUMAN	C	705	ENSP00000410522:Y705C;ENSP00000366475:Y705C	ENSP00000366475:Y705C	Y	-	2	0	ATG2A	64433409	0.966000	0.33281	0.468000	0.27192	0.753000	0.42808	1.740000	0.38228	2.129000	0.65627	0.533000	0.62120	TAT		0.587	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		C	64676833	T	C	64676833	3	2	738	1	0	0	0	0	1	0	0	0	1093	1406	49	3	3810	3	ATG2A	11	64676833	Missense_Mutation	SNP	T	TCGA-KN-8432-01A-11D-2310-10	688712	64676833	70329683	78	42860											
FLI1	2313	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	11	128679073	128679073	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr11:128679073C>T	ENST00000527786.2	+	8	1292	c.803C>T	c.(802-804)cCg>cTg	p.P268L	FLI1_ENST00000525560.1_Missense_Mutation_p.P75L|FLI1_ENST00000534087.2_Missense_Mutation_p.P235L|FLI1_ENST00000281428.8_Missense_Mutation_p.P202L|FLI1_ENST00000344954.6_Missense_Mutation_p.P235L	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	268					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)		ATCCTGGGCCCGACCAGCAGT	0.423			T	EWSR1	Ewing sarcoma																																		Dom	yes		11	11q24	2313	Friend leukemia virus integration 1		M	0													86	84	84					11																	128679073		1841	4087	5928	SO:0001583	missense	2313			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.803C>T	11.37:g.128679073C>T	ENSP00000433488:p.Pro268Leu		B2R8H2|B4DFV4|B4DTC6|G3V183|Q14319|Q92480|Q9UE07	Missense_Mutation	SNP	ENST00000527786.2	37	CCDS44768.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.643889	0.87859	.	.	ENSG00000151702	ENST00000525560;ENST00000344954;ENST00000429175;ENST00000534087;ENST00000281428	T;T;T;T;T	0.26810	1.71;2.25;2.26;2.25;2.26	5.69	5.69	0.88448	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.41511	0.1162	M	0.74647	2.275	0.80722	D	1	P;D;D	0.57257	0.953;0.979;0.971	B;B;P	0.47573	0.348;0.406;0.55	T	0.41574	-0.9501	10	0.66056	D	0.02	.	19.8045	0.96525	0.0:1.0:0.0:0.0	.	268;75;202	Q01543;B4DFV4;Q01543-2	FLI1_HUMAN;.;.	L	75;235;268;235;202	ENSP00000437124:P75L;ENSP00000339627:P235L;ENSP00000399985:P268L;ENSP00000432950:P235L;ENSP00000281428:P202L	ENSP00000281428:P202L	P	+	2	0	FLI1	128184283	1.000000	0.71417	0.944000	0.38274	0.991000	0.79684	7.722000	0.84778	2.676000	0.91093	0.655000	0.94253	CCG		0.423	FLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386226.2	NM_002017		T	128679073	C	T	128679073	3	4	738	1	0	0	0	0	1	0	0	0	5926	652	23	1	833	1	FLI1	11	128679073	Missense_Mutation	SNP	C	TCGA-KN-8432-01A-11D-2310-10	64002240	128679073	6327443	79	42861											
TAS2R30	259293	broad.mit.edu	37	12	11286136	11286137	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr12:11286136_11286137insA	ENST00000539585.1	-	1	1106_1107	c.707_708insT	c.(706-708)ctgfs	p.L236fs	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_001097643.1	NP_001091112.1	P59541	T2R30_HUMAN	taste receptor, type 2, member 30	236					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)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						TGGCACATAACAGAAGAAAGGA	0.411																																																0																																										SO:0001589	frameshift_variant	259293			AX097746, AF494233	CCDS53750.1	12p13.2	2012-08-22				ENSG00000256188		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	19112	protein-coding gene	gene with protein product		613963	"taste receptor, type 2, member 47"	TAS2R47			Standard	NM_001097643		Approved	T2R30	uc009zhs.1	P59541		ENST00000539585.1:c.708dupT	12.37:g.11286137_11286137dupA	ENSP00000444736:p.Leu236fs		Q645X7	Frame_Shift_Ins	INS	ENST00000539585.1	37	CCDS53750.1																																																																																				0.411	TAS2R30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400238.1	NM_001097643		A	11286137	-	A	11286136	7	5	738	1	0	1	1	0	0	0	0	0	15578	465	17	0	255	0	TAS2R30	12	11286136	Frame_Shift_Ins	INS	-	TCGA-KN-8432-01A-11D-2310-10		11286136	122565759	80	42862											
SLC38A1	81539	broad.mit.edu	37	12	46633473	46633473	+	Silent	SNP	A	A	G			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr12:46633473A>G	ENST00000398637.5	-	3	805	c.111T>C	c.(109-111)ggT>ggC	p.G37G	SLC38A1_ENST00000546893.1_Silent_p.G37G|SLC38A1_ENST00000439706.1_Silent_p.G37G|SLC38A1_ENST00000552197.1_Silent_p.G37G|SLC38A1_ENST00000549633.1_Intron|SLC38A1_ENST00000549049.1_Silent_p.G37G	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	37					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|neutral amino acid transport (GO:0015804)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neutral amino acid transmembrane transporter activity (GO:0015175)|sodium:amino acid symporter activity (GO:0005283)			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			TATTTATCTGACCATTTTCTA	0.418																																																0													151	140	144					12																	46633473		1874	4124	5998	SO:0001819	synonymous_variant	81539			AF271070	CCDS41774.1, CCDS61106.1	12q13.11	2013-05-22				ENSG00000111371		"Solute carriers"	13447	protein-coding gene	gene with protein product		608490				10891391	Standard	NM_030674		Approved	ATA1, NAT2, SAT1	uc001rpc.3	Q9H2H9		ENST00000398637.5:c.111T>C	12.37:g.46633473A>G			Q8NC61|Q8NCF8|Q96JX2|Q9H2Q2	Silent	SNP	ENST00000398637.5	37	CCDS41774.1																																																																																				0.418	SLC38A1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404218.2			G	46633473	A	G	46633473	2	3	738	1	0	0	0	0	0	0	0	1	14607	262	10	3		3	SLC38A1	12	46633473	Silent	SNP	A	TCGA-KN-8432-01A-11D-2310-10	35347337	46633473	87218422	81	42863											
WNT1	7471	broad.mit.edu;hgsc.bcm.edu	37	12	49373357	49373365	+	In_Frame_Del	DEL	CTGATACGC	CTGATACGC	-			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	CTGATACGC	CTGATACGC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr12:49373357_49373365delCTGATACGC	ENST00000293549.3	+	2	247_255	c.211_219delCTGATACGC	c.(211-219)ctgatacgcdel	p.LIR71del		NM_005430.3	NP_005421.1	P04628	WNT1_HUMAN	wingless-type MMTV integration site family, member 1	71					bone development (GO:0060348)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to peptide hormone stimulus (GO:0071375)|central nervous system morphogenesis (GO:0021551)|cerebellum formation (GO:0021588)|diencephalon development (GO:0021536)|embryonic axis specification (GO:0000578)|forebrain anterior/posterior pattern specification (GO:0021797)|hematopoietic stem cell proliferation (GO:0071425)|hepatocyte differentiation (GO:0070365)|inner ear morphogenesis (GO:0042472)|midbrain development (GO:0030901)|midbrain-hindbrain boundary maturation during brain development (GO:0022004)|myoblast fusion (GO:0007520)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell aging (GO:0090344)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron differentiation (GO:0030182)|neuron fate determination (GO:0048664)|organ regeneration (GO:0031100)|positive regulation of cell proliferation (GO:0008284)|positive regulation of dermatome development (GO:0061184)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to wounding (GO:0009611)|signal transduction in response to DNA damage (GO:0042770)|Spemann organizer formation (GO:0060061)|spinal cord association neuron differentiation (GO:0021527)|T cell differentiation in thymus (GO:0033077)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(357;0.244)		ACAGCGGCGTCTGATACGCCAAAATCCGG	0.603																																																0																																										SO:0001651	inframe_deletion	7471			X03072	CCDS8776.1	12q13	2013-02-28				ENSG00000125084		"Wingless-type MMTV integration sites", "Endogenous ligands"	12774	protein-coding gene	gene with protein product		164820		INT1		2998762, 3281802	Standard	NM_005430		Approved		uc001rsu.3	P04628	OTTHUMG00000170403	ENST00000293549.3:c.211_219delCTGATACGC	12.37:g.49373357_49373365delCTGATACGC	ENSP00000293549:p.Leu71_Arg73del		Q5U0N2	In_Frame_Del	DEL	ENST00000293549.3	37	CCDS8776.1																																																																																				0.603	WNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408937.1			-	49373365	CTGATACGC	-	49373357	7	5	738	1	0	1	0	1	0	0	0	0	17386	912	32	0	217	0	WNT1	12	49373357	In_Frame_Del	DEL	CTGATACGC	TCGA-KN-8432-01A-11D-2310-10	2739884	49373357	84478538	82	42864	406	2									
WNT1	7471	bcgsc.ca	37	12	49373358	49373366	+	In_Frame_Del	DEL	CTGATACGC	CTGATACGC	-			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	CTGATACGC	CTGATACGC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr12:49373358_49373366delCTGATACGC	ENST00000293549.3	+	2	248_256	c.212_220delCTGATACGC	c.(211-222)cctgatacgcaa>caa	p.PDT71del		NM_005430.3	NP_005421.1	P04628	WNT1_HUMAN	wingless-type MMTV integration site family, member 1	71					bone development (GO:0060348)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to peptide hormone stimulus (GO:0071375)|central nervous system morphogenesis (GO:0021551)|cerebellum formation (GO:0021588)|diencephalon development (GO:0021536)|embryonic axis specification (GO:0000578)|forebrain anterior/posterior pattern specification (GO:0021797)|hematopoietic stem cell proliferation (GO:0071425)|hepatocyte differentiation (GO:0070365)|inner ear morphogenesis (GO:0042472)|midbrain development (GO:0030901)|midbrain-hindbrain boundary maturation during brain development (GO:0022004)|myoblast fusion (GO:0007520)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell aging (GO:0090344)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron differentiation (GO:0030182)|neuron fate determination (GO:0048664)|organ regeneration (GO:0031100)|positive regulation of cell proliferation (GO:0008284)|positive regulation of dermatome development (GO:0061184)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to wounding (GO:0009611)|signal transduction in response to DNA damage (GO:0042770)|Spemann organizer formation (GO:0060061)|spinal cord association neuron differentiation (GO:0021527)|T cell differentiation in thymus (GO:0033077)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(357;0.244)		CAGCGGCGTCTGATACGCCAAAATCCGGG	0.608																																																0																																										SO:0001651	inframe_deletion	7471			X03072	CCDS8776.1	12q13	2013-02-28				ENSG00000125084		"Wingless-type MMTV integration sites", "Endogenous ligands"	12774	protein-coding gene	gene with protein product		164820		INT1		2998762, 3281802	Standard	NM_005430		Approved		uc001rsu.3	P04628	OTTHUMG00000170403	ENST00000293549.3:c.212_220delCTGATACGC	12.37:g.49373358_49373366delCTGATACGC	ENSP00000293549:p.Pro71_Thr73del		Q5U0N2	In_Frame_Del	DEL	ENST00000293549.3	37	CCDS8776.1																																																																																				0.608	WNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408937.1			-	49373366	CTGATACGC	-	49373358	7	5	738	1	0	1	0	1	0	0	0	0	17386	1580	55	0	218	0	WNT1	12	49373358	In_Frame_Del	DEL	CTGATACGC	TCGA-KN-8432-01A-11D-2310-10	1	49373358	84478537	83	42865	406	2									
KRT6B	3854	mdanderson.org	37	12	52845665	52845665	+	Silent	SNP	G	G	T	rs141114189		TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr12:52845665G>T	ENST00000252252.3	-	1	245	c.198C>A	c.(196-198)ggC>ggA	p.G66G		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	66	Head.				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)		TCCTCTTGGAGCCCCCCAGGC	0.657																																																0													21	24	23					12																	52845665		1932	3915	5847	SO:0001819	synonymous_variant	3854			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.198C>A	12.37:g.52845665G>T			P48669	Silent	SNP	ENST00000252252.3	37	CCDS8828.1																																																																																				0.657	KRT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404969.1	NM_005555		T	52845665	G	T	52845665	2	4	738	1	0	0	0	0	0	0	0	1	8483	958	34	4		4	KRT6B	12	52845665	Silent	SNP	G	TCGA-KN-8432-01A-11D-2310-10	3472307	52845665	81006230	84	42866											
N4BP2L2	10443	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	13	33016882	33016882	+	Missense_Mutation	SNP	A	A	C			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr13:33016882A>C	ENST00000504114.1	-	6	1838	c.1747T>G	c.(1747-1749)Ttt>Gtt	p.F583V	N4BP2L2_ENST00000399396.3_Missense_Mutation_p.F598V|N4BP2L2_ENST00000446957.2_Intron|N4BP2L2_ENST00000357505.6_Missense_Mutation_p.F583V|N4BP2L2_ENST00000380121.3_5'UTR			Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	33					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)		TGTAGCACAAAAGAAGGAATA	0.323																																																0													33	34	34					13																	33016882		1820	4072	5892	SO:0001583	missense	10443			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.1747T>G	13.37:g.33016882A>C	ENSP00000427477:p.Phe583Val		A3KME8	Missense_Mutation	SNP	ENST00000504114.1	37		.	.	.	.	.	.	.	.	.	.	A	10.17	1.275345	0.23307	.	.	ENSG00000139617;ENSG00000139617;ENSG00000244754;ENSG00000244754;ENSG00000244754	ENST00000380121;ENST00000503296;ENST00000504114;ENST00000357505;ENST00000399396	.	.	.	4.19	2.34	0.29019	.	0.431030	0.19579	N	0.110903	T	0.22399	0.0540	N	0.08118	0	0.09310	N	1	B;B;B;B	0.11235	0.004;0.004;0.002;0.002	B;B;B;B	0.11329	0.004;0.004;0.006;0.006	T	0.21314	-1.0249	9	0.72032	D	0.01	-1.6649	8.8591	0.35247	0.1856:0.0:0.8144:0.0	.	583;598;481;481	B4DPY1;Q92802-3;Q96KV2;Q9Y3H6	.;.;.;.	V	481;510;583;583;598	.	ENSP00000350104:F583V	F	-	1	0	N4BP2L2;RP11-298P3.4	31914882	0.609000	0.26975	0.004000	0.12327	0.032000	0.12392	1.209000	0.32357	0.476000	0.27440	-0.345000	0.07892	TTT		0.323	N4BP2L2-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000361380.1	NM_014887		C	33016882	A	C	33016882	3	2	738	1	0	0	0	0	1	0	0	0	10114	14	1	5	478	5	N4BP2L2	13	33016882	Missense_Mutation	SNP	A	TCGA-KN-8432-01A-11D-2310-10		33016882	82152996	85	42867											
EPSTI1	94240	ucsc.edu;bcgsc.ca	37	13	43469222	43469222	+	Nonsense_Mutation	SNP	G	G	A	rs201385523		TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr13:43469222G>A	ENST00000398762.3	-	11	870	c.871C>T	c.(871-873)Cga>Tga	p.R291*	EPSTI1_ENST00000313640.7_Nonsense_Mutation_p.R291*|EPSTI1_ENST00000313624.7_Nonsense_Mutation_p.R280*			Q96J88	ESIP1_HUMAN	epithelial stromal interaction 1 (breast)	291										endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)		CCTTGGAGTCGGTCCAGAAAA	0.413																																																0								G	stop/ARG,stop/ARG	0,4406		0,0,2203	62	60	60		871,838	5.7	1	13		60	2,8598	3.0+/-9.4	0,2,4298	yes	stop-gained,stop-gained	EPSTI1	NM_001002264.1,NM_033255.2	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	291/411,280/308	43469222	2,13004	2203	4300	6503	SO:0001587	stop_gained	94240			AF396928	CCDS9387.1, CCDS31964.1	13q13.3	2011-06-27			ENSG00000133106	ENSG00000133106			16465	protein-coding gene	gene with protein product	"epithelial stromal interaction protein 1"	607441				11991720	Standard	NM_033255		Approved	BRESI1, MGC29634	uc001uyw.2	Q96J88	OTTHUMG00000016814	ENST00000398762.3:c.871C>T	13.37:g.43469222G>A	ENSP00000381746:p.Arg291*		Q8IVC7|Q8NDQ7	Nonsense_Mutation	SNP	ENST00000398762.3	37	CCDS9387.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.895090	0.91962	0.0	2.33E-4	ENSG00000133106	ENST00000313640;ENST00000313624;ENST00000398762	.	.	.	5.71	5.71	0.89125	.	0.195514	0.32884	N	0.005535	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.6042	12.3473	0.55128	0.0:0.0:0.8316:0.1684	.	.	.	.	X	291;280;291	.	ENSP00000318643:R280X	R	-	1	2	EPSTI1	42367222	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.439000	0.44846	2.691000	0.91804	0.561000	0.74099	CGA		0.413	EPSTI1-010	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400321.1	NM_001002264		A	43469222	G	A	43469222	4	1	738	1	0	0	0	0	0	1	0	0	5200	1124	39	1	373	1	EPSTI1	13	43469222	Nonsense_Mutation	SNP	G	TCGA-KN-8432-01A-11D-2310-10	10452340	43469222	71700656	86	42868											
PCDH8	5100	broad.mit.edu	37	13	53420463	53420465	+	In_Frame_Del	DEL	GGT	GGT	-			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	GGT	GGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr13:53420463_53420465delGGT	ENST00000377942.3	-	1	2310_2312	c.2107_2109delACC	c.(2107-2109)accdel	p.T703del	PCDH8_ENST00000338862.4_In_Frame_Del_p.T703del	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	703	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		TGACAGTTGCGGTGGTGGTGAGC	0.714																																					GBM(36;25 841 9273 49207)											0																																										SO:0001651	inframe_deletion	5100			AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"Cadherins / Protocadherins : Non-clustered"	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.2107_2109delACC	13.37:g.53420469_53420471delGGT	ENSP00000367177:p.Thr703del		B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	In_Frame_Del	DEL	ENST00000377942.3	37	CCDS9438.1																																																																																				0.714	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	NM_002590		-	53420465	GGT	-	53420463	7	5	738	1	0	1	0	1	0	0	0	0	11519	1103	39	0	1115	0	PCDH8	13	53420463	In_Frame_Del	DEL	GGT	TCGA-KN-8432-01A-11D-2310-10	9951241	53420463	61749415	87	42869											
ESR2	2100	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	14	64727212	64727212	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr14:64727212C>T	ENST00000341099.4	-	5	1324	c.907G>A	c.(907-909)Gac>Aac	p.D303N	ESR2_ENST00000353772.3_Missense_Mutation_p.D303N|ESR2_ENST00000542956.1_Missense_Mutation_p.D303N|ESR2_ENST00000358599.5_Missense_Mutation_p.D303N|ESR2_ENST00000553796.1_Missense_Mutation_p.D303N|ESR2_ENST00000357782.2_Missense_Mutation_p.D303N|ESR2_ENST00000557772.1_Missense_Mutation_p.D303N|ESR2_ENST00000554572.1_Missense_Mutation_p.D303N|ESR2_ENST00000555278.1_Missense_Mutation_p.D303N|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000267525.6_Missense_Mutation_p.D303N	NM_001437.2	NP_001428.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	303	Steroid-binding.				brain development (GO:0007420)|cell-cell signaling (GO:0007267)|epithelial cell maturation involved in prostate gland development (GO:0060743)|extracellular negative regulation of signal transduction (GO:1900116)|gene expression (GO:0010467)|hormone-mediated apoptotic signaling pathway (GO:0008628)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|ovarian follicle development (GO:0001541)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|uterus development (GO:0060065)|vagina development (GO:0060068)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor antagonist activity (GO:0048019)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estropipate(DB04574)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	AACTCCTTGTCGGCCAACTTG	0.582																																																0													102	103	103					14																	64727212		2203	4300	6503	SO:0001583	missense	2100			X99101	CCDS9762.1, CCDS32096.1, CCDS55920.1, CCDS61469.1, CCDS61470.1	14q21-q22	2013-01-16			ENSG00000140009	ENSG00000140009		"Nuclear hormone receptors"	3468	protein-coding gene	gene with protein product		601663				8769313	Standard	NM_001214902		Approved	NR3A2, Erb	uc001xha.1	Q92731	OTTHUMG00000141306	ENST00000341099.4:c.907G>A	14.37:g.64727212C>T	ENSP00000343925:p.Asp303Asn		A8K8K5|G3V5M5|O60608|O60685|O60702|O60703|O75583|O75584|Q0MWT5|Q0MWT6|Q86Z31|Q9UEV6|Q9UHD3|Q9UQK9	Missense_Mutation	SNP	ENST00000341099.4	37	CCDS9762.1	.	.	.	.	.	.	.	.	.	.	C	36	5.714190	0.96830	.	.	ENSG00000140009	ENST00000556275;ENST00000542956;ENST00000554572;ENST00000353772;ENST00000358599;ENST00000555278;ENST00000553796;ENST00000357782;ENST00000557772;ENST00000341099;ENST00000267525	D;D;D;D;D;D;D;D;D;D;T	0.96685	-4.09;-4.09;-4.09;-4.09;-4.09;-4.09;-4.09;-4.09;-4.09;-4.09;0.62	5.83	5.83	0.93111	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.98302	0.9437	M	0.84219	2.685	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.998;1.0	D;D;D;P;D	0.97110	1.0;0.999;0.972;0.883;0.984	D	0.98691	1.0696	10	0.72032	D	0.01	.	20.1374	0.98035	0.0:1.0:0.0:0.0	.	303;303;303;303;303	Q92731-7;Q92731;Q92731-6;Q92731-5;F1D8N3	.;ESR2_HUMAN;.;.;.	N	303	ENSP00000452485:D303N;ENSP00000441792:D303N;ENSP00000450699:D303N;ENSP00000335551:D303N;ENSP00000351412:D303N;ENSP00000450488:D303N;ENSP00000452426:D303N;ENSP00000350427:D303N;ENSP00000451582:D303N;ENSP00000343925:D303N;ENSP00000267525:D303N	ENSP00000267525:D303N	D	-	1	0	ESR2	63796965	1.000000	0.71417	0.994000	0.49952	0.972000	0.66771	7.726000	0.84824	2.763000	0.94921	0.563000	0.77884	GAC		0.582	ESR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280621.1			T	64727212	C	T	64727212	3	4	738	1	0	0	0	0	1	0	0	0	5259	884	31	1	791	1	ESR2	14	64727212	Missense_Mutation	SNP	C	TCGA-KN-8432-01A-11D-2310-10		64727212	42622328	88	42870											
C14orf115	55237	broad.mit.edu;mdanderson.org;bcgsc.ca	37	14	74824716	74824716	+	Missense_Mutation	SNP	G	G	C			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr14:74824716G>C	ENST00000256362.4	+	2	1471	c.1230G>C	c.(1228-1230)gaG>gaC	p.E410D		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	410					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						TGTACCTGGAGCATTGCATCT	0.577																																																0													116	103	108					14																	74824716		2203	4300	6503	SO:0001583	missense	55237			AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 115", "vertebrae development homolog (pig)"	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.1230G>C	14.37:g.74824716G>C	ENSP00000256362:p.Glu410Asp		Q9NVC7	Missense_Mutation	SNP	ENST00000256362.4	37	CCDS9830.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.273359	0.59649	.	.	ENSG00000133980	ENST00000256362	T	0.50001	0.76	4.59	4.59	0.56863	.	0.072575	0.56097	D	0.000031	T	0.48169	0.1485	L	0.27053	0.805	0.31311	N	0.687184	D	0.67145	0.996	P	0.58266	0.836	T	0.54603	-0.8269	10	0.62326	D	0.03	-6.1439	10.3686	0.44039	0.09:0.0:0.91:0.0	.	410	Q9H8Y1	VRTN_HUMAN	D	410	ENSP00000256362:E410D	ENSP00000256362:E410D	E	+	3	2	VRTN	73894469	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	1.475000	0.35409	2.371000	0.80710	0.561000	0.74099	GAG		0.577	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412339.1	NM_018228		C	74824716	G	C	74824716	3	2	738	1	0	0	0	0	1	0	0	0	1742	962	34	4	1232	4	C14orf115	14	74824716	Missense_Mutation	SNP	G	TCGA-KN-8432-01A-11D-2310-10	10097504	74824716	32524824	89	42871											
KIAA0284	283638	broad.mit.edu	37	14	105359440	105359440	+	Missense_Mutation	SNP	A	A	C			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr14:105359440A>C	ENST00000414716.3	+	14	4234	c.4006A>C	c.(4006-4008)Acc>Ccc	p.T1336P	CEP170B_ENST00000418279.1_Missense_Mutation_p.T1266P|CEP170B_ENST00000453495.1_Missense_Mutation_p.T1372P|CEP170B_ENST00000556508.1_Missense_Mutation_p.T1301P	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	1371						cytoplasm (GO:0005737)|microtubule (GO:0005874)											CATGCCCAGCACCCCCGCCTC	0.687																																																0													16	25	22					14																	105359440		2084	4203	6287	SO:0001583	missense	283638			AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"Cep170-related"		"KIAA0284"	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.4006A>C	14.37:g.105359440A>C	ENSP00000404151:p.Thr1336Pro		Q2KHR7|Q86TI7	Missense_Mutation	SNP	ENST00000414716.3	37	CCDS45175.1	.	.	.	.	.	.	.	.	.	.	A	18.15	3.559308	0.65538	.	.	ENSG00000099814	ENST00000556508;ENST00000414716;ENST00000453495;ENST00000418279;ENST00000429757	T;T;T;T	0.56103	0.5;0.62;0.48;0.63	4.45	3.25	0.37280	.	0.337000	0.26919	N	0.021828	T	0.57844	0.2081	M	0.71581	2.175	0.36088	D	0.843223	P;P;B	0.43169	0.776;0.8;0.429	P;B;B	0.47626	0.552;0.261;0.326	T	0.67122	-0.5750	10	0.87932	D	0	-24.8257	10.0086	0.41972	0.8482:0.0:0.0:0.1518	.	1336;1371;1266	Q9Y4F5-2;Q9Y4F5;E9PFC1	.;K0284_HUMAN;.	P	1301;1336;1372;1266;4	ENSP00000451249:T1301P;ENSP00000404151:T1336P;ENSP00000407238:T1372P;ENSP00000415006:T1266P	ENSP00000404151:T1336P	T	+	1	0	KIAA0284	104430485	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	4.006000	0.57083	0.527000	0.28560	0.347000	0.21830	ACC		0.687	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2	NM_001112726		C	105359440	A	C	105359440	3	2	738	1	0	0	0	0	1	0	0	0	8168	159	6	5	4056	5	KIAA0284	14	105359440	Missense_Mutation	SNP	A	TCGA-KN-8432-01A-11D-2310-10	30534724	105359440	1990100	90	42872											
EIF2AK4	440275	ucsc.edu	37	15	40235659	40235659	+	Silent	SNP	A	A	G			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr15:40235659A>G	ENST00000263791.5	+	3	376	c.333A>G	c.(331-333)gaA>gaG	p.E111E	EIF2AK4_ENST00000559624.1_Silent_p.E111E|EIF2AK4_ENST00000382727.2_Silent_p.E111E|EIF2AK4_ENST00000560648.1_Silent_p.E111E	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	111	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.				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)		CTCGCCTAGAAGAACTGGCCA	0.338																																																0													108	104	105					15																	40235659		1818	4085	5903	SO:0001819	synonymous_variant	440275			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.333A>G	15.37:g.40235659A>G			C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Silent	SNP	ENST00000263791.5	37	CCDS42016.1																																																																																				0.338	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1			G	40235659	A	G	40235659	2	3	738	1	0	0	0	0	0	0	0	1	5001	69	3	3		3	EIF2AK4	15	40235659	Silent	SNP	A	TCGA-KN-8432-01A-11D-2310-10		40235659	62295733	91	42873											
SQRDL	58472	broad.mit.edu;mdanderson.org;bcgsc.ca	37	15	45954211	45954211	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr15:45954211C>T	ENST00000260324.7	+	3	679	c.293C>T	c.(292-294)tCa>tTa	p.S98L	SQRDL_ENST00000568606.1_Missense_Mutation_p.S98L|RP11-96O20.4_ENST00000564080.1_Missense_Mutation_p.S98L	NM_021199.3	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	98					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)		CAATTGTCCTCATCTGGTCGT	0.443																																																0													115	94	101					15																	45954211		2198	4297	6495	SO:0001583	missense	58472			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.293C>T	15.37:g.45954211C>T	ENSP00000260324:p.Ser98Leu		Q9UQM8	Missense_Mutation	SNP	ENST00000260324.7	37	CCDS10127.1	.	.	.	.	.	.	.	.	.	.	C	7.286	0.610024	0.14066	.	.	ENSG00000137767	ENST00000260324	T	0.50277	0.75	5.52	2.58	0.30949	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.422413	0.26646	N	0.023238	T	0.39835	0.1093	M	0.71581	2.175	0.18873	N	0.999982	B	0.06786	0.001	B	0.13407	0.009	T	0.37361	-0.9709	10	0.37606	T	0.19	.	2.3248	0.04220	0.1332:0.5191:0.1299:0.2178	.	98	Q9Y6N5	SQRD_HUMAN	L	98	ENSP00000260324:S98L	ENSP00000260324:S98L	S	+	2	0	SQRDL	43741503	0.001000	0.12720	0.280000	0.24747	0.020000	0.10135	1.158000	0.31737	0.277000	0.22141	-0.140000	0.14226	TCA		0.443	SQRDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254319.2			T	45954211	C	T	45954211	3	4	738	1	0	0	0	0	1	0	0	0	15134	838	29	2	299	2	SQRDL	15	45954211	Missense_Mutation	SNP	C	TCGA-KN-8432-01A-11D-2310-10	5718552	45954211	56577181	92	42874											
TRPM7	54822	broad.mit.edu;mdanderson.org	37	15	50884111	50884111	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr15:50884111C>T	ENST00000313478.7	-	26	4602	c.4321G>A	c.(4321-4323)Gta>Ata	p.V1441I	TRPM7_ENST00000560955.1_Missense_Mutation_p.V1441I	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	1441					actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		AACTTACCTACAAATGCTCCA	0.318																																																0													74	69	71					15																	50884111		1799	4066	5865	SO:0001583	missense	54822			AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"Voltage-gated ion channels / Transient receptor potential cation channels"	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.4321G>A	15.37:g.50884111C>T	ENSP00000320239:p.Val1441Ile		Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Missense_Mutation	SNP	ENST00000313478.7	37	CCDS42035.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.081246	0.55753	.	.	ENSG00000092439	ENST00000313478	T	0.56611	0.45	5.91	4.05	0.47172	.	0.337756	0.27315	N	0.019932	T	0.37237	0.0996	N	0.24115	0.695	0.44668	D	0.997658	B	0.27229	0.172	B	0.25140	0.058	T	0.09840	-1.0656	10	0.27082	T	0.32	.	12.4344	0.55590	0.0:0.8654:0.0:0.1346	.	1441	Q96QT4	TRPM7_HUMAN	I	1441	ENSP00000320239:V1441I	ENSP00000320239:V1441I	V	-	1	0	TRPM7	48671403	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.988000	0.56951	0.861000	0.35504	-0.259000	0.10710	GTA		0.318	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1	NM_017672		T	50884111	C	T	50884111	3	4	738	1	0	0	0	0	1	0	0	0	16596	478	17	2	1332	2	TRPM7	15	50884111	Missense_Mutation	SNP	C	TCGA-KN-8432-01A-11D-2310-10	4929900	50884111	51647281	93	42875											
SLTM	79811	mdanderson.org	37	15	59191919	59191919	+	Silent	SNP	C	C	A			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr15:59191919C>A	ENST00000380516.2	-	7	894	c.807G>T	c.(805-807)gtG>gtT	p.V269V	SLTM_ENST00000557950.1_5'Flank|SLTM_ENST00000536328.1_Intron	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	269					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTGTAATTTTCACATTTTTAC	0.453																																																0													157	147	150					15																	59191919		2192	4292	6484	SO:0001819	synonymous_variant	79811			BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"RNA binding motif (RRM) containing"	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.807G>T	15.37:g.59191919C>A			A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Silent	SNP	ENST00000380516.2	37	CCDS10168.2																																																																																				0.453	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157124.1	NM_024755		A	59191919	C	A	59191919	2	1	738	1	0	0	0	0	0	0	0	1	14760	813	29	4		4	SLTM	15	59191919	Silent	SNP	C	TCGA-KN-8432-01A-11D-2310-10	8307808	59191919	43339473	94	42876											
CD276	80381	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	15	73995325	73995325	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr15:73995325G>T	ENST00000318443.5	+	4	933	c.631G>T	c.(631-633)Gtg>Ttg	p.V211L	CD276_ENST00000537340.2_Missense_Mutation_p.V65L|CD276_ENST00000318424.5_Intron|CD276_ENST00000564751.1_Intron|CD276_ENST00000561213.1_Missense_Mutation_p.V211L	NM_001024736.1	NP_001019907.1	Q5ZPR3	CD276_HUMAN	CD276 molecule	211	Ig-like C2-type 1.				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						CCTGCGGGTGGTGCTGGGTGC	0.632																																																0													97	78	85					15																	73995325		2198	4297	6495	SO:0001583	missense	80381			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.631G>T	15.37:g.73995325G>T	ENSP00000320084:p.Val211Leu		Q6P5Y4|Q6UXI2|Q8NBI8|Q8NC34|Q8NCB6|Q9BXR1	Missense_Mutation	SNP	ENST00000318443.5	37	CCDS32288.1	.	.	.	.	.	.	.	.	.	.	G	5.969	0.362837	0.11296	.	.	ENSG00000103855	ENST00000318443;ENST00000379823;ENST00000537340	T;T	0.76709	-1.04;-1.04	3.29	1.34	0.21922	Immunoglobulin subtype 2 (1);CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.56156	0.1966	N	0.13235	0.315	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.002;0.003;0.002	T	0.48490	-0.9031	9	0.41790	T	0.15	.	4.3949	0.11358	0.3111:0.177:0.5119:0.0	.	157;211;211	B4DK26;Q5ZPR3;Q5ZPR3-4	.;CD276_HUMAN;.	L	211;211;65	ENSP00000320084:V211L;ENSP00000441087:V65L	ENSP00000320084:V211L	V	+	1	0	CD276	71782378	0.996000	0.38824	1.000000	0.80357	0.135000	0.20990	0.346000	0.19997	0.712000	0.32039	0.313000	0.20887	GTG		0.632	CD276-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268979.1	NM_025240		T	73995325	G	T	73995325	3	4	738	1	0	0	0	0	1	0	0	0	2994	1261	44	4	641	4	CD276	15	73995325	Missense_Mutation	SNP	G	TCGA-KN-8432-01A-11D-2310-10	14803406	73995325	28536067	95	42877											
ZNF592	9640	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	15	85334093	85334093	+	Missense_Mutation	SNP	A	A	G	rs370083133		TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr15:85334093A>G	ENST00000560079.2	+	5	2666	c.2378A>G	c.(2377-2379)tAt>tGt	p.Y793C	ZNF592_ENST00000299927.3_Missense_Mutation_p.Y793C	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	793					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)			TGCCTGCACTATGCCCGCAAG	0.562																																																0								A	CYS/TYR	1,4405	2.1+/-5.4	0,1,2202	102	86	92		2378	5.6	1	15		92	0,8598		0,0,4299	no	missense	ZNF592	NM_014630.2	194	0,1,6501	GG,GA,AA		0.0,0.0227,0.0077	probably-damaging	793/1268	85334093	1,13003	2203	4299	6502	SO:0001583	missense	9640			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.2378A>G	15.37:g.85334093A>G	ENSP00000452877:p.Tyr793Cys		Q2M1T2|Q504Y9	Missense_Mutation	SNP	ENST00000560079.2	37	CCDS32317.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.198225	0.79015	2.27E-4	0.0	ENSG00000166716	ENST00000299927	T	0.03035	4.07	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.13713	0.0332	L	0.52011	1.625	0.53688	D	0.999975	D	0.89917	1.0	D	0.91635	0.999	T	0.00300	-1.1835	10	0.72032	D	0.01	-16.0348	13.7682	0.63008	1.0:0.0:0.0:0.0	.	793	Q92610	ZN592_HUMAN	C	793	ENSP00000299927:Y793C	ENSP00000299927:Y793C	Y	+	2	0	ZNF592	83135097	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	5.104000	0.64584	2.138000	0.66242	0.460000	0.39030	TAT		0.562	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418779.2	NM_014630		G	85334093	A	G	85334093	3	3	738	1	0	0	0	0	1	0	0	0	18027	449	16	3	2384	3	ZNF592	15	85334093	Missense_Mutation	SNP	A	TCGA-KN-8432-01A-11D-2310-10	11338768	85334093	17197299	96	42878											
SOX8	30812	ucsc.edu	37	16	1034902	1034902	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr16:1034902A>G	ENST00000293894.3	+	3	972	c.857A>G	c.(856-858)gAc>gGc	p.D286G		NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	286					adipose tissue development (GO:0060612)|astrocyte fate commitment (GO:0060018)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|enteric nervous system development (GO:0048484)|fat cell differentiation (GO:0045444)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|oligodendrocyte differentiation (GO:0048709)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of gliogenesis (GO:0014015)|positive regulation of kidney development (GO:0090184)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone levels (GO:0010817)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|ureter morphogenesis (GO:0072197)	cytoplasm (GO:0005737)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10		Hepatocellular(780;0.00308)				CACGAGTTCGACCAGTACCTG	0.692																																																0													24	24	24					16																	1034902		2194	4295	6489	SO:0001583	missense	30812			AF164104	CCDS10428.1	16p13.3	2008-05-23			ENSG00000005513	ENSG00000005513		"SRY (sex determining region Y)-boxes"	11203	protein-coding gene	gene with protein product		605923				10662550, 10684944	Standard	NM_014587		Approved		uc002ckn.3	P57073	OTTHUMG00000122101	ENST00000293894.3:c.857A>G	16.37:g.1034902A>G	ENSP00000293894:p.Asp286Gly		Q9NZW2	Missense_Mutation	SNP	ENST00000293894.3	37	CCDS10428.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.096470	0.76870	.	.	ENSG00000005513	ENST00000293894	T	0.79033	-1.23	4.17	4.17	0.49024	.	0.000000	0.85682	D	0.000000	D	0.89781	0.6814	M	0.92833	3.35	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.91611	0.5303	10	0.62326	D	0.03	.	12.6002	0.56492	1.0:0.0:0.0:0.0	.	286	P57073	SOX8_HUMAN	G	286	ENSP00000293894:D286G	ENSP00000293894:D286G	D	+	2	0	SOX8	974903	1.000000	0.71417	0.998000	0.56505	0.951000	0.60555	7.015000	0.76387	1.751000	0.51876	0.529000	0.55759	GAC		0.692	SOX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242867.1			G	1034902	A	G	1034902	3	3	738	1	0	0	0	0	1	0	0	0	14963	275	10	3	867	3	SOX8	16	1034902	Missense_Mutation	SNP	A	TCGA-KN-8432-01A-11D-2310-10		1034902	89319851	97	42879											
ARL6IP1	23204	hgsc.bcm.edu	37	16	18806888	18806888	+	Silent	SNP	C	C	T	rs201647214		TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr16:18806888C>T	ENST00000304414.7	-	4	517	c.306G>A	c.(304-306)caG>caA	p.Q102Q	RP11-1035H13.3_ENST00000567078.2_Silent_p.Q102Q|ARL6IP1_ENST00000562819.1_Intron|ARL6IP1_ENST00000546206.2_Silent_p.Q73Q	NM_015161.1	NP_055976.1	Q15041	AR6P1_HUMAN	ADP-ribosylation factor-like 6 interacting protein 1	102					cell death (GO:0008219)|cotranslational protein targeting to membrane (GO:0006613)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|Sec61 translocon complex (GO:0005784)				breast(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)	11						GGAATCTTTGCTGTTGTTCAG	0.383																																																0													77	69	72					16																	18806888		2197	4300	6497	SO:0001819	synonymous_variant	23204			BC010281	CCDS10572.1	16p12-p11.2	2014-03-12	2006-09-26	2006-09-26	ENSG00000170540	ENSG00000170540			697	protein-coding gene	gene with protein product		607669	"ADP-ribosylation factor-like 6 interacting protein"	ARL6IP		24482476	Standard	NM_015161		Approved	AIP1, ARMER, KIAA0069, SPG61	uc002dfl.1	Q15041	OTTHUMG00000131367	ENST00000304414.7:c.306G>A	16.37:g.18806888C>T				Silent	SNP	ENST00000304414.7	37	CCDS10572.1																																																																																				0.383	ARL6IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254156.2	NM_015161		T	18806888	C	T	18806888	2	4	738	1	0	0	0	0	0	0	0	1	942	796	28	2		2	ARL6IP1	16	18806888	Silent	SNP	C	TCGA-KN-8432-01A-11D-2310-10	17771986	18806888	71547865	98	42880											
NLRC5	84166	ucsc.edu;bcgsc.ca	37	16	57057697	57057697	+	Splice_Site	SNP	G	G	T			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr16:57057697G>T	ENST00000262510.6	+	5	581	c.356G>T	c.(355-357)gGc>gTc	p.G119V	NLRC5_ENST00000308149.7_Splice_Site_p.G119V|NLRC5_ENST00000539144.1_Splice_Site_p.G119V|NLRC5_ENST00000436936.1_Splice_Site_p.G119V	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	119					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)				GCTTTTTCAGGCCTGAAGCGC	0.592																																																0													44	40	41					16																	57057697		2198	4300	6498	SO:0001630	splice_region_variant	84166			AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"Nucleotide-binding domain and leucine rich repeat containing"	29933	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5", "NOD-like receptor C5"	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.356-1G>T	16.37:g.57057697G>T			B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.564515	0.27915	.	.	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000539144	T;T;T;T	0.75050	-0.7;-0.71;-0.9;-0.71	4.62	2.64	0.31445	.	0.000000	0.33005	N	0.005397	T	0.64034	0.2562	L	0.56769	1.78	0.45995	D	0.998801	B	0.26195	0.144	B	0.20955	0.032	T	0.54951	-0.8216	9	.	.	.	.	6.2817	0.21011	0.1009:0.1866:0.7125:0.0	.	119	Q86WI3	NLRC5_HUMAN	V	119	ENSP00000262510:G119V;ENSP00000308886:G119V;ENSP00000389739:G119V;ENSP00000441727:G119V	.	G	+	2	0	NLRC5	55615198	0.743000	0.28239	0.804000	0.32291	0.857000	0.48899	0.785000	0.26830	0.557000	0.29117	0.557000	0.71058	GGC		0.592	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206	Missense_Mutation	T	57057697	G	T	57057697	5	4	738	1	0	0	0	0	0	0	1	0	10472	1217	42	4	366	4	NLRC5	16	57057697	Splice_Site	SNP	G	TCGA-KN-8432-01A-11D-2310-10	38250809	57057697	33297056	99	42881											
CALB2	794	broad.mit.edu;ucsc.edu	37	16	71419536	71419536	+	Silent	SNP	C	C	T	rs139080757		TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr16:71419536C>T	ENST00000302628.4	+	10	761	c.684C>T	c.(682-684)taC>taT	p.Y228Y	CALB2_ENST00000349553.5_3'UTR	NM_001740.4	NP_001731.2	P22676	CALB2_HUMAN	calbindin 2	228	EF-hand 5. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cytosolic calcium ion homeostasis (GO:0051480)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				AGGATCTGTACGAGAAAAACA	0.577																																																0								C	,	1,4395		0,1,2197	51	47	48		684,	-4.6	0.8	16	dbSNP_134	48	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,utr-3	CALB2	NM_001740.4,NM_007088.3	,	0,2,6496	TT,TC,CC		0.0116,0.0227,0.0154	,	228/272,	71419536	2,12994	2198	4300	6498	SO:0001819	synonymous_variant	794			X56667	CCDS10899.1	16q22.2	2013-01-10	2008-05-19		ENSG00000172137	ENSG00000172137		"EF-hand domain containing"	1435	protein-coding gene	gene with protein product	"calretinin"	114051	"calbindin 2, 29kDa (calretinin)"			1906795	Standard	NM_001740		Approved	CAL2	uc002faa.4	P22676	OTTHUMG00000137589	ENST00000302628.4:c.684C>T	16.37:g.71419536C>T			A8K4Y1|Q53HD2|Q96BK4	Silent	SNP	ENST00000302628.4	37	CCDS10899.1																																																																																				0.577	CALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268988.1	NM_001740		T	71419536	C	T	71419536	2	4	738	1	0	0	0	0	0	0	0	1	2576	547	19	1		1	CALB2	16	71419536	Silent	SNP	C	TCGA-KN-8432-01A-11D-2310-10	14361839	71419536	18935217	100	42882											
FANCA	2175	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	16	89838101	89838101	+	Silent	SNP	C	C	T			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr16:89838101C>T	ENST00000389301.3	-	23	2166	c.2136G>A	c.(2134-2136)gaG>gaA	p.E712E	FANCA_ENST00000567284.2_5'UTR|FANCA_ENST00000568369.1_Silent_p.E712E	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	712					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GTTCCCGTGGCTCCAGTCTCG	0.517			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"Fanconi anemia, complementation group A"		L	0													172	142	152					16																	89838101		2198	4300	6498	SO:0001819	synonymous_variant	2175	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"Fanconi anemia, complementation groups"	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.2136G>A	16.37:g.89838101C>T			A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Silent	SNP	ENST00000389301.3	37	CCDS32515.1																																																																																				0.517	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1			T	89838101	C	T	89838101	2	4	738	1	0	0	0	0	0	0	0	1	5664	796	28	2		2	FANCA	16	89838101	Silent	SNP	C	TCGA-KN-8432-01A-11D-2310-10	18418565	89838101	516652	101	42883											
SUPT6H	6830	hgsc.bcm.edu;bcgsc.ca	37	17	27028052	27028052	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr17:27028052C>T	ENST00000314616.6	+	36	5183	c.4900C>T	c.(4900-4902)Cag>Tag	p.Q1634*	SUPT6H_ENST00000347486.4_Nonsense_Mutation_p.Q1634*	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1634	Interaction with histone H2B and H3.				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)					CACCACCCCTCAGTACCACCA	0.642																																																0													185	172	176					17																	27028052		2203	4300	6503	SO:0001587	stop_gained	6830			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.4900C>T	17.37:g.27028052C>T	ENSP00000319104:p.Gln1634*		A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Nonsense_Mutation	SNP	ENST00000314616.6	37	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	C	46	12.401632	0.99664	.	.	ENSG00000109111	ENST00000314616;ENST00000347486	.	.	.	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.7182	18.8074	0.92043	0.0:1.0:0.0:0.0	.	.	.	.	X	1634;634	.	ENSP00000319104:Q1634X	Q	+	1	0	SUPT6H	24052179	1.000000	0.71417	0.988000	0.46212	0.899000	0.52679	7.209000	0.77916	2.465000	0.83290	0.650000	0.86243	CAG		0.642	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		T	27028052	C	T	27028052	4	4	738	1	0	0	0	0	0	1	0	0	15405	827	29	2	5038	2	SUPT6H	17	27028052	Nonsense_Mutation	SNP	C	TCGA-KN-8432-01A-11D-2310-10		27028052	54167158	102	42884											
ERBB2	2064	bcgsc.ca	37	17	37881117	37881117	+	Missense_Mutation	SNP	C	C	T	rs542027040		TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr17:37881117C>T	ENST00000269571.5	+	20	2605	c.2446C>T	c.(2446-2448)Cgc>Tgc	p.R816C	ERBB2_ENST00000584450.1_Missense_Mutation_p.R816C|ERBB2_ENST00000406381.2_Missense_Mutation_p.R786C|ERBB2_ENST00000584601.1_Missense_Mutation_p.R786C|ERBB2_ENST00000445658.2_Missense_Mutation_p.R540C|MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000540147.1_Missense_Mutation_p.R786C|ERBB2_ENST00000541774.1_Missense_Mutation_p.R801C			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	816	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)	AAACCGCGGACGCCTGGGCTC	0.592		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)			C|||	1	0.000199681	0.0	0.0	5008	,	,		18540	0.0		0.0	False		,,,				2504	0.001						Dom	yes		17	17q21.1	2064	"v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"		E	0													55	54	54					17																	37881117		2203	4300	6503	SO:0001583	missense	2064			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"CD molecules"	3430	protein-coding gene	gene with protein product	"neuro/glioblastoma derived oncogene homolog"	164870	"v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.2446C>T	17.37:g.37881117C>T	ENSP00000269571:p.Arg816Cys		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	37	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	C	13.25	2.181207	0.38511	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	D;D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7;-1.7	5.15	4.14	0.48551	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.89033	0.6600	M	0.62088	1.915	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76071	0.974;0.987;0.974	D	0.89754	0.3942	9	0.62326	D	0.03	.	14.6498	0.68789	0.1461:0.8539:0.0:0.0	.	540;801;816	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	C	786;801;540;816;786	ENSP00000385185:R786C;ENSP00000446466:R801C;ENSP00000404047:R540C;ENSP00000269571:R816C;ENSP00000443562:R786C	ENSP00000269571:R816C	R	+	1	0	ERBB2	35134643	0.730000	0.28100	0.949000	0.38748	0.972000	0.66771	0.936000	0.28938	2.397000	0.81536	0.563000	0.77884	CGC		0.592	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			T	37881117	C	T	37881117	3	4	738	1	0	0	0	0	1	0	0	0	5208	536	19	1	2524	1	ERBB2	17	37881117	Missense_Mutation	SNP	C	TCGA-KN-8432-01A-11D-2310-10	10853065	37881117	43314093	103	42885											
RAPGEFL1	51195	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	17	38346943	38346943	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr17:38346943C>T	ENST00000456989.2	+	8	857	c.811C>T	c.(811-813)Cga>Tga	p.R271*	RAPGEFL1_ENST00000540388.1_3'UTR|RAPGEFL1_ENST00000544503.1_Nonsense_Mutation_p.R265*|RAPGEFL1_ENST00000264644.6_Nonsense_Mutation_p.R216*|RAPGEFL1_ENST00000436615.3_Nonsense_Mutation_p.R216*			Q9UHV5	RPGFL_HUMAN	Rap guanine nucleotide exchange factor (GEF)-like 1	422					G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						AGAGATCCACCGAGTGGAGCC	0.647																																					Esophageal Squamous(28;274 750 6870 14218 42203)											0													132	115	121					17																	38346943		2203	4300	6503	SO:0001587	stop_gained	51195			AF117946	CCDS11363.1	17q21.2	2006-08-01	2004-03-26		ENSG00000108352	ENSG00000108352			17428	protein-coding gene	gene with protein product	"Link guanine nucleotide exchange factor II"		"RAP guanine-nucleotide-exchange factor (GEF)-like 1"				Standard	NM_016339		Approved	Link-GEFII	uc010cwu.1	Q9UHV5	OTTHUMG00000133325	ENST00000456989.2:c.811C>T	17.37:g.38346943C>T	ENSP00000394530:p.Arg271*			Nonsense_Mutation	SNP	ENST00000456989.2	37		.	.	.	.	.	.	.	.	.	.	C	41	8.578792	0.98870	.	.	ENSG00000108352	ENST00000456989;ENST00000544503;ENST00000537255;ENST00000264644;ENST00000436615	.	.	.	5.31	5.31	0.75309	.	0.402136	0.23380	N	0.048804	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	13.1138	0.59289	0.1606:0.8394:0.0:0.0	.	.	.	.	X	271;265;216;421;216	.	ENSP00000264644:R421X	R	+	1	2	RAPGEFL1	35600469	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.201000	0.58439	2.635000	0.89317	0.591000	0.81541	CGA		0.647	RAPGEFL1-005	PUTATIVE	non_canonical_conserved|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000397518.1	NM_016339		T	38346943	C	T	38346943	4	4	738	1	0	0	0	0	0	1	0	0	13055	644	23	1	668	1	RAPGEFL1	17	38346943	Nonsense_Mutation	SNP	C	TCGA-KN-8432-01A-11D-2310-10	465826	38346943	42848267	104	42886											
STAT5B	6777	broad.mit.edu	37	17	40364022	40364022	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr17:40364022A>G	ENST00000293328.3	-	13	1828	c.1660T>C	c.(1660-1662)Tcc>Ccc	p.S554P		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	554					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)	TGGGACCAGGACACAGACAGG	0.607																																																0													63	50	54					17																	40364022		2203	4300	6503	SO:0001583	missense	6777			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.1660T>C	17.37:g.40364022A>G	ENSP00000293328:p.Ser554Pro		Q8WWS8	Missense_Mutation	SNP	ENST00000293328.3	37	CCDS11423.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.128074	0.77549	.	.	ENSG00000173757	ENST00000293328	D	0.88664	-2.41	5.42	5.42	0.78866	STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);EF-hand-like domain (1);	0.095971	0.64402	D	0.000001	D	0.91935	0.7446	L	0.45422	1.42	0.52501	D	0.999959	D	0.64830	0.994	D	0.71184	0.972	D	0.92839	0.6287	10	0.87932	D	0	-3.9242	15.6229	0.76820	1.0:0.0:0.0:0.0	.	554	P51692	STA5B_HUMAN	P	554	ENSP00000293328:S554P	ENSP00000293328:S554P	S	-	1	0	STAT5B	37617548	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	5.667000	0.68067	2.279000	0.76181	0.402000	0.26972	TCC		0.607	STAT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319797.1	NM_012448		G	40364022	A	G	40364022	3	3	738	1	0	0	0	0	1	0	0	0	15274	275	10	3	731	3	STAT5B	17	40364022	Missense_Mutation	SNP	A	TCGA-KN-8432-01A-11D-2310-10	2017079	40364022	40831188	105	42887											
SCN4A	6329	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	17	62021160	62021160	+	Silent	SNP	G	G	A			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr17:62021160G>A	ENST00000435607.1	-	22	4039	c.3963C>T	c.(3961-3963)aaC>aaT	p.N1321N	SCN4A_ENST00000578147.1_Silent_p.N1321N	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1321					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)	TCTTCATGGCGTTATAGTATT	0.547																																																0													98	99	99					17																	62021160		2157	4294	6451	SO:0001819	synonymous_variant	6329			U24693		17q23.3	2012-02-26	2007-01-23					"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.3963C>T	17.37:g.62021160G>A			Q15478|Q16447|Q7Z6B1	Silent	SNP	ENST00000435607.1	37	CCDS45761.1																																																																																				0.547	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		A	62021160	G	A	62021160	2	1	738	1	0	0	0	0	0	0	0	1	13926	1136	40	1		1	SCN4A	17	62021160	Silent	SNP	G	TCGA-KN-8432-01A-11D-2310-10	21657138	62021160	19174050	106	42888											
CCDC137	339230	broad.mit.edu;bcgsc.ca	37	17	79633801	79633801	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr17:79633801C>T	ENST00000329214.8	+	1	408	c.5C>T	c.(4-6)gCg>gTg	p.A2V	OXLD1_ENST00000374741.3_5'Flank|OXLD1_ENST00000571503.1_5'Flank|OXLD1_ENST00000573786.1_5'Flank	NM_199287.2	NP_954981.1	Q6PK04	CC137_HUMAN	coiled-coil domain containing 137	2							poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(2)	12	all_neural(118;0.0878)|all_lung(278;0.23)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GTGGAGATGGCGGGAGCTGGT	0.716																																																0													15	23	20					17																	79633801		2120	4226	6346	SO:0001583	missense	339230			BC009369	CCDS42400.1	17q25.3	2008-07-04				ENSG00000185298			33451	protein-coding gene	gene with protein product		614271					Standard	NM_199287		Approved	MGC16597	uc002kbc.4	Q6PK04		ENST00000329214.8:c.5C>T	17.37:g.79633801C>T	ENSP00000329360:p.Ala2Val			Missense_Mutation	SNP	ENST00000329214.8	37	CCDS42400.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.527202	0.44969	.	.	ENSG00000185298	ENST00000329214	T	0.22336	1.96	3.0	0.871	0.19107	.	0.877314	0.09590	N	0.781616	T	0.21718	0.0523	L	0.51422	1.61	0.22531	N	0.999019	D	0.63880	0.993	P	0.46452	0.517	T	0.19647	-1.0299	10	0.30078	T	0.28	.	7.5055	0.27542	0.4677:0.5323:0.0:0.0	.	2	Q6PK04	CC137_HUMAN	V	2	ENSP00000329360:A2V	ENSP00000329360:A2V	A	+	2	0	CCDC137	77244206	0.000000	0.05858	0.345000	0.25642	0.004000	0.04260	-2.213000	0.01224	0.269000	0.21961	-0.311000	0.09066	GCG		0.716	CCDC137-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440387.1			T	79633801	C	T	79633801	3	4	738	1	0	0	0	0	1	0	0	0	2773	768	27	1	7	1	CCDC137	17	79633801	Missense_Mutation	SNP	C	TCGA-KN-8432-01A-11D-2310-10	17612641	79633801	1561409	107	42889											
KIAA1012	22878	broad.mit.edu	37	18	29450409	29450409	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr18:29450409T>C	ENST00000283351.4	-	16	2649	c.2314A>G	c.(2314-2316)Act>Gct	p.T772A	TRAPPC8_ENST00000582539.1_Missense_Mutation_p.T718A	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	772					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GACAAATCAGTCAACAAAAGT	0.289																																																0													62	63	63					18																	29450409		2202	4297	6499	SO:0001583	missense	22878			AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"Trafficking protein particle complex"	29169	protein-coding gene	gene with protein product	"general sporulation gene 1 homolog (S. cerevisiae)"	614136	"KIAA1012"	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.2314A>G	18.37:g.29450409T>C	ENSP00000283351:p.Thr772Ala		A0JP15|B3KME5|Q9H0L2	Missense_Mutation	SNP	ENST00000283351.4	37	CCDS11901.1	.	.	.	.	.	.	.	.	.	.	T	11.99	1.803684	0.31869	.	.	ENSG00000153339	ENST00000283351	T	0.08282	3.11	5.98	4.8	0.61643	.	0.099720	0.64402	D	0.000001	T	0.09598	0.0236	L	0.45581	1.43	0.80722	D	1	B	0.09022	0.002	B	0.09377	0.004	T	0.06162	-1.0842	10	0.42905	T	0.14	.	12.2287	0.54476	0.1311:0.0:0.0:0.8689	.	772	Q9Y2L5	TPPC8_HUMAN	A	772	ENSP00000283351:T772A	ENSP00000283351:T772A	T	-	1	0	TRAPPC8	27704407	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	2.958000	0.49145	1.042000	0.40150	0.528000	0.53228	ACT		0.289	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	NM_014939		C	29450409	T	C	29450409	3	2	738	1	0	0	0	0	1	0	0	0	8206	1667	58	3	2049	3	KIAA1012	18	29450409	Missense_Mutation	SNP	T	TCGA-KN-8432-01A-11D-2310-10		29450409	48626839	108	42890											
MALT1	10892	broad.mit.edu	37	18	56414969	56414969	+	Silent	SNP	C	C	T	rs200126163		TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr18:56414969C>T	ENST00000348428.3	+	17	2628	c.2370C>T	c.(2368-2370)ttC>ttT	p.F790F	RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Silent_p.F779F	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	790					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						TTTCAAGTTTCGCTCACCATG	0.403			T	BIRC3	MALT								C|||	1	0.000199681	0.0008	0.0	5008	,	,		21654	0.0		0.0	False		,,,				2504	0.0						Dom	yes		18	18q21	10892	mucosa associated lymphoid tissue lymphoma translocation gene 1		L	0								C	,	0,4406		0,0,2203	157	154	155		2370,2337	-7.5	0	18		155	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	MALT1	NM_006785.2,NM_173844.1	,	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	,	790/825,779/814	56414969	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	10892				CCDS11967.1, CCDS11968.1	18q21	2013-01-11			ENSG00000172175	ENSG00000172175		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6819	protein-coding gene	gene with protein product	"paracaspase"	604860		MLT		10339464, 10406266, 10523859	Standard	NM_006785		Approved		uc002lhm.1	Q9UDY8	OTTHUMG00000132761	ENST00000348428.3:c.2370C>T	18.37:g.56414969C>T			Q9NTB7|Q9ULX4	Silent	SNP	ENST00000348428.3	37	CCDS11967.1																																																																																				0.403	MALT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256132.2			T	56414969	C	T	56414969	2	4	738	1	0	0	0	0	0	0	0	1	9204	883	31	1		1	MALT1	18	56414969	Silent	SNP	C	TCGA-KN-8432-01A-11D-2310-10	26964560	56414969	21662279	109	42891											
ANGPTL4	51129	hgsc.bcm.edu;mdanderson.org	37	19	8429323	8429323	+	Missense_Mutation	SNP	G	G	A	rs116843064	byFrequency	TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr19:8429323G>A	ENST00000301455.2	+	1	289	c.118G>A	c.(118-120)Gag>Aag	p.E40K	ANGPTL4_ENST00000541807.1_5'UTR|ANGPTL4_ENST00000393962.2_Missense_Mutation_p.E40K	NM_139314.1	NP_647475.1	Q9BY76	ANGL4_HUMAN	angiopoietin-like 4	40			E -> K (associated with lower plasma levels of triglyceride and higher levels of HDL cholesterol; dbSNP:rs116843064). {ECO:0000269|PubMed:17322881}.		angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cellular lipid metabolic process (GO:0044255)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of lipoprotein lipase activity (GO:0051005)|positive regulation of angiogenesis (GO:0045766)|protein homooligomerization (GO:0051260)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	enzyme inhibitor activity (GO:0004857)			large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						GTCCTGGGACGAGATGAATGT	0.721													g|||	47	0.00938498	0.003	0.0245	5008	,	,		12942	0.0		0.0258	False		,,,				2504	0.0															0			GRCh37	CM071551	ANGPTL4	M	rs116843064		LYS/GLU,LYS/GLU	4,4192		0,4,2094	7	5	6	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	118,118	4.9	1	19	dbSNP_132	6	132,8100		1,130,3985	yes	missense,missense	ANGPTL4	NM_001039667.1,NM_139314.1	56,56	1,134,6079	AA,AG,GG		1.6035,0.0953,1.0943	probably-damaging,probably-damaging	40/369,40/407	8429323	136,12292	2098	4116	6214	SO:0001583	missense	51129			AF202636	CCDS12200.1, CCDS42493.1	19p13.3	2013-10-07				ENSG00000167772		"Fibrinogen C domain containing"	16039	protein-coding gene	gene with protein product	"fasting-induced adipose factor", "hepatic angiopoietin-related protein", "PPARG angiopoietin related protein", "hepatic fibrinogen/angiopoietin-related protein", "peroxisome proliferator-activated receptor (PPAR) gamma induced angiopoietin-related protein", "angiopoietin-related protein 4"	605910				10698685, 10866690, 23960078	Standard	NM_139314		Approved	pp1158, PGAR, ARP4, HFARP, FIAF, NL2	uc002mjq.1	Q9BY76		ENST00000301455.2:c.118G>A	19.37:g.8429323G>A	ENSP00000301455:p.Glu40Lys		A8MY84|B4E089|D6W670|F5H0I2|Q53HQ6|Q53HU1|Q6UXN0|Q9HBV4|Q9NZU4|Q9Y5B3	Missense_Mutation	SNP	ENST00000301455.2	37	CCDS12200.1	33	0.01510989010989011	2	0.0040650406504065045	9	0.024861878453038673	0	0.0	22	0.029023746701846966	G	37	6.185911	0.97357	9.53E-4	0.016035	ENSG00000167772	ENST00000301455;ENST00000393962	T;T	0.60672	0.17;0.17	4.95	4.95	0.65309	.	0.244919	0.39210	U	0.001425	T	0.47600	0.1454	L	0.59436	1.845	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.63033	0.91;0.91	T	0.66337	-0.5949	10	0.72032	D	0.01	.	15.7013	0.77544	0.0:0.0:1.0:0.0	.	40;40	A8MY84;Q9BY76	.;ANGL4_HUMAN	K	40	ENSP00000301455:E40K;ENSP00000377534:E40K	ENSP00000301455:E40K	E	+	1	0	ANGPTL4	8335323	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.344000	0.72991	2.295000	0.77249	0.486000	0.48141	GAG		0.721	ANGPTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460322.1	NM_139314		A	8429323	G	A	8429323	3	1	738	1	0	0	0	0	1	0	0	0	616	1059	37	1	120	1	ANGPTL4	19	8429323	Missense_Mutation	SNP	G	TCGA-KN-8432-01A-11D-2310-10		8429323	50699660	110	42892											
RLN3	117579	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	19	14139176	14139176	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr19:14139176C>T	ENST00000431365.2	+	1	217	c.160C>T	c.(160-162)Cga>Tga	p.R54*	RLN3_ENST00000585987.1_Nonsense_Mutation_p.R54*|CTB-55O6.4_ENST00000590528.1_RNA	NM_080864.2	NP_543140.1	Q8WXF3	REL3_HUMAN	relaxin 3	54						extracellular region (GO:0005576)				endometrium(1)|lung(4)	5						CCGGTGGAGACGATCAGACAT	0.642																																																0													46	49	48					19																	14139176		2203	4299	6502	SO:0001587	stop_gained	117579			AF447451	CCDS12302.1	19p13.2	2013-02-26	2004-11-15					"Endogenous ligands"	17135	protein-coding gene	gene with protein product	"prorelaxin H3"	606855	"relaxin 3 (H3)"				Standard	NM_080864		Approved	ZINS4, RXN3, H3	uc002mxw.1	Q8WXF3		ENST00000431365.2:c.160C>T	19.37:g.14139176C>T	ENSP00000397415:p.Arg54*		Q6UXW5	Nonsense_Mutation	SNP	ENST00000431365.2	37	CCDS12302.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.029163	0.75504	.	.	ENSG00000171136	ENST00000431365	.	.	.	4.27	4.27	0.50696	.	0.128902	0.46442	D	0.000290	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-30.5073	13.9885	0.64350	0.0:1.0:0.0:0.0	.	.	.	.	X	54	.	ENSP00000397415:R54X	R	+	1	2	RLN3	14000176	1.000000	0.71417	0.650000	0.29550	0.202000	0.24057	3.267000	0.51577	2.093000	0.63338	0.491000	0.48974	CGA		0.642	RLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458529.1			T	14139176	C	T	14139176	4	4	738	1	0	0	0	0	0	1	0	0	13399	528	19	1	162	1	RLN3	19	14139176	Nonsense_Mutation	SNP	C	TCGA-KN-8432-01A-11D-2310-10	5709853	14139176	44989807	111	42893											
CAPNS1	826	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	19	36632120	36632120	+	Silent	SNP	C	C	T			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr19:36632120C>T	ENST00000246533.3	+	2	805	c.207C>T	c.(205-207)atC>atT	p.I69I	CAPNS1_ENST00000588780.1_Silent_p.I69I|AD001527.7_ENST00000604228.1_RNA|CAPNS1_ENST00000587718.1_Silent_p.I69I|CAPNS1_ENST00000588815.1_Silent_p.I69I|CAPNS1_ENST00000589146.1_Intron|CAPNS1_ENST00000590874.1_Silent_p.I69I	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	calpain, small subunit 1	69					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)			TCAGCGCCATCAGGTAAGGCG	0.692																																					Esophageal Squamous(129;1541 1691 5780 18353 34150)											0													10	9	9					19																	36632120		2183	4282	6465	SO:0001819	synonymous_variant	826			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.207C>T	19.37:g.36632120C>T			A8K0P1|Q8WTX3|Q96EW0	Silent	SNP	ENST00000246533.3	37	CCDS12489.1																																																																																				0.692	CAPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457411.2			T	36632120	C	T	36632120	2	4	738	1	0	0	0	0	0	0	0	1	2635	816	29	2		2	CAPNS1	19	36632120	Silent	SNP	C	TCGA-KN-8432-01A-11D-2310-10	22492944	36632120	22496863	112	42894											
KCNN4	3783	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	44276195	44276195	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr19:44276195C>T	ENST00000262888.3	-	4	1171	c.776G>A	c.(775-777)gGc>gAc	p.G259D		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	259					calcium ion transport (GO:0006816)|cell volume homeostasis (GO:0006884)|defense response (GO:0006952)|immune system process (GO:0002376)|phospholipid translocation (GO:0045332)|positive regulation of protein secretion (GO:0050714)|positive regulation of T cell receptor signaling pathway (GO:0050862)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|saliva secretion (GO:0046541)|stabilization of membrane potential (GO:0030322)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|membrane raft (GO:0045121)|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)|Intermediate conductance calcium-activated potassium channel activity (GO:0022894)|protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Enflurane(DB00228)|Halothane(DB01159)|Miconazole(DB01110)|Procaine(DB00721)|Quinine(DB00468)	CCACATGGTGCCCGGCACCAC	0.572																																																0													150	114	126					19																	44276195		2203	4300	6503	SO:0001583	missense	3783			AF022797	CCDS12630.1	19q13.2	2012-07-05				ENSG00000104783		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6293	protein-coding gene	gene with protein product		602754				9380751, 9407042, 16382103	Standard	NM_002250		Approved	KCa3.1, hSK4, hKCa4, hIKCa1	uc002oxl.3	O15554		ENST00000262888.3:c.776G>A	19.37:g.44276195C>T	ENSP00000262888:p.Gly259Asp		Q53XR4	Missense_Mutation	SNP	ENST00000262888.3	37	CCDS12630.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.972251	0.53614	.	.	ENSG00000104783	ENST00000262888;ENST00000407385	T	0.23552	1.9	5.28	5.28	0.74379	Ion transport 2 (1);	0.399496	0.28125	N	0.016502	T	0.18551	0.0445	N	0.11756	0.17	0.46478	D	0.999061	D;D	0.53312	0.959;0.959	P;P	0.47251	0.542;0.542	T	0.01280	-1.1397	10	0.51188	T	0.08	-20.4112	10.2688	0.43470	0.0:0.9096:0.0:0.0904	.	153;259	D1MQ10;O15554	.;KCNN4_HUMAN	D	259;127	ENSP00000262888:G259D	ENSP00000262888:G259D	G	-	2	0	KCNN4	48968035	0.551000	0.26497	0.990000	0.47175	0.990000	0.78478	1.525000	0.35953	2.648000	0.89879	0.561000	0.74099	GGC		0.572	KCNN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463598.1	NM_002250		T	44276195	C	T	44276195	3	4	738	1	0	0	0	0	1	0	0	0	8083	739	26	2	527	2	KCNN4	19	44276195	Missense_Mutation	SNP	C	TCGA-KN-8432-01A-11D-2310-10	7644075	44276195	14852788	113	42895											
NUCB1	4924	broad.mit.edu	37	19	49425109	49425111	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	AGC	AGC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr19:49425109_49425111delAGC	ENST00000405315.4	+	12	1533_1535	c.1199_1201delAGC	c.(1198-1203)aagcag>aag	p.Q407del	NUCB1_ENST00000485798.1_3'UTR|NUCB1-AS1_ENST00000416432.1_RNA|NUCB1_ENST00000407032.1_In_Frame_Del_p.Q407del|NUCB1_ENST00000263273.5_In_Frame_Del_p.Q407del	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																																																0																																										SO:0001651	inframe_deletion	4924			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		B2RD64|Q15838|Q7Z4J7|Q9BUR1	In_Frame_Del	DEL	ENST00000405315.4	37	CCDS12740.1																																																																																				0.64	NUCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326545.2	NM_006184		-	49425111	AGC	-	49425109	7	5	738	1	0	1	0	1	0	0	0	0	10720	72	3	0	1241	0	NUCB1	19	49425109	In_Frame_Del	DEL	AGC	TCGA-KN-8432-01A-11D-2310-10	5148914	49425109	9703874	114	42896											
KIR2DL1	3811	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	19	55285024	55285024	+	Intron	SNP	G	G	C			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr19:55285024G>C	ENST00000538269.1	+	2	61				KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR2DL1_ENST00000336077.6_Missense_Mutation_p.V104L|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.V104L|KIR3DL1_ENST00000541392.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL3_ENST00000434419.2_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)		CTACGGTTCTGTTACTCACTC	0.532																																																0													272	244	254					19																	55285024		2177	4210	6387	SO:0001627	intron_variant	3802			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.35-43965G>C	19.37:g.55285024G>C			O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000538269.1	37		.	.	.	.	.	.	.	.	.	.	g	0.614	-0.823718	0.02755	.	.	ENSG00000125498	ENST00000336077;ENST00000291633	T;T	0.00717	5.79;5.79	1.24	-2.48	0.06423	.	.	.	.	.	T	0.00637	0.0021	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	0.51647	-0.8679	9	0.51188	T	0.08	.	1.1611	0.01806	0.1669:0.2905:0.3355:0.2071	.	104;104	Q6IST4;Q6H2H3	.;.	L	104	ENSP00000336769:V104L;ENSP00000291633:V104L	ENSP00000291633:V104L	V	+	1	0	KIR2DL1	59976836	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.538000	0.00438	-4.634000	0.00038	-3.779000	0.00021	GTT		0.532	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_013289		C	55285024	G	C	55285024	1	2	738	0	1	0	0	0	0	0	0	0	8318	1377	48	4		4	KIR2DL1	19	55285024	Intron	SNP	G	TCGA-KN-8432-01A-11D-2310-10	5859915	55285024	3843959	115	42897											
ZNF264	9422	broad.mit.edu	37	19	57724079	57724079	+	Silent	SNP	C	C	T			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr19:57724079C>T	ENST00000263095.6	+	4	2028	c.1614C>T	c.(1612-1614)ccC>ccT	p.P538P	ZNF264_ENST00000536056.1_Silent_p.P538P	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	538					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(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		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;0.0135)		GAGAGAAGCCCTATAAATGTA	0.463																																																0													101	99	100					19																	57724079		2203	4300	6503	SO:0001819	synonymous_variant	9422			AB007872	CCDS33127.1	19q13.4	2013-01-08				ENSG00000083844		"Zinc fingers, C2H2-type", "-"	13057	protein-coding gene	gene with protein product		604668				9455477	Standard	NM_003417		Approved	KIAA0412	uc002qob.3	O43296		ENST00000263095.6:c.1614C>T	19.37:g.57724079C>T			A8K8Y9|Q9P1V0	Silent	SNP	ENST00000263095.6	37	CCDS33127.1																																																																																				0.463	ZNF264-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465080.1			T	57724079	C	T	57724079	2	4	738	1	0	0	0	0	0	0	0	1	17809	668	24	2		2	ZNF264	19	57724079	Silent	SNP	C	TCGA-KN-8432-01A-11D-2310-10	2439055	57724079	1404904	116	42898											
SLA2	84174	broad.mit.edu;mdanderson.org;bcgsc.ca	37	20	35260999	35260999	+	Splice_Site	SNP	T	T	A			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr20:35260999T>A	ENST00000262866.4	-	5	803	c.381A>T	c.(379-381)agA>agT	p.R127S	SLA2_ENST00000360672.2_Splice_Site_p.R127S	NM_032214.3|NM_175077.2	NP_115590.1|NP_778252.1	Q9H6Q3	SLAP2_HUMAN	Src-like-adaptor 2	127	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				antigen receptor-mediated signaling pathway (GO:0050851)|B cell mediated immunity (GO:0019724)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of B cell activation (GO:0050869)|negative regulation of calcium-mediated signaling (GO:0050849)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of signal transduction (GO:0009967)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome membrane (GO:0010008)|late endosome (GO:0005770)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)|SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|lung(2)|skin(2)	5	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				CTTACTCACCTCTCCTGGTCT	0.597																																					Ovarian(59;720 1165 26994 46188 51693)											0													64	59	61					20																	35260999		2203	4300	6503	SO:0001630	splice_region_variant	84174			AF326353	CCDS13282.1, CCDS13283.1	20q11.23	2013-02-14			ENSG00000101082	ENSG00000101082		"SH2 domain containing"	17329	protein-coding gene	gene with protein product		606577		C20orf156		11696592	Standard	NM_032214		Approved	FLJ21992, SLAP-2	uc002xfv.3	Q9H6Q3	OTTHUMG00000032393	ENST00000262866.4:c.382+1A>T	20.37:g.35260999T>A			A8K648|E1P5U1|E1P5U2|Q5TH27|Q5TH28|Q8WY18|Q96QI4|Q9H135	Missense_Mutation	SNP	ENST00000262866.4	37	CCDS13282.1	.	.	.	.	.	.	.	.	.	.	T	13.41	2.227592	0.39399	.	.	ENSG00000101082	ENST00000262866;ENST00000360672	D;D	0.88277	-2.36;-2.36	4.53	4.53	0.55603	SH2 motif (5);	0.378993	0.26948	N	0.021691	D	0.82733	0.5101	N	0.17248	0.465	0.37013	D	0.895848	B;B	0.32382	0.368;0.167	B;B	0.42386	0.386;0.138	D	0.83450	0.0048	10	0.52906	T	0.07	-13.4373	7.4364	0.27158	0.1929:0.0:0.0:0.8071	.	127;127	Q9H6Q3;Q9H6Q3-2	SLAP2_HUMAN;.	S	127	ENSP00000262866:R127S;ENSP00000353890:R127S	ENSP00000262866:R127S	R	-	3	2	SLA2	34694413	1.000000	0.71417	1.000000	0.80357	0.695000	0.40330	4.214000	0.58527	1.898000	0.54952	0.459000	0.35465	AGA		0.597	SLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079037.2	NM_175077	Missense_Mutation	A	35260999	T	A	35260999	5	1	738	1	0	0	0	0	0	0	1	0	14370	1565	54	5	420	5	SLA2	20	35260999	Splice_Site	SNP	T	TCGA-KN-8432-01A-11D-2310-10		35260999	27764521	117	42899											
DHX35	60625	broad.mit.edu	37	20	37621034	37621034	+	Missense_Mutation	SNP	T	T	G	rs200532343		TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr20:37621034T>G	ENST00000252011.3	+	7	581	c.548T>G	c.(547-549)tTg>tGg	p.L183W	DHX35_ENST00000373325.2_Missense_Mutation_p.L183W|DHX35_ENST00000373323.4_Missense_Mutation_p.L152W	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	183	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)				GAGAGGACCTTGTACACTGAC	0.413																																																0													229	204	213					20																	37621034		2203	4300	6503	SO:0001583	missense	60625			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.548T>G	20.37:g.37621034T>G	ENSP00000252011:p.Leu183Trp		A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Missense_Mutation	SNP	ENST00000252011.3	37	CCDS13310.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.700696	0.88924	.	.	ENSG00000101452	ENST00000373325;ENST00000252011;ENST00000373323;ENST00000441485	T;T;T;T	0.08546	3.08;3.08;3.08;3.08	5.72	5.72	0.89469	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.42381	0.1200	H	0.95151	3.63	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.96	T	0.59273	-0.7485	10	0.87932	D	0	.	15.6818	0.77376	0.0:0.0:0.0:1.0	.	152;183	F5GXM6;Q9H5Z1	.;DHX35_HUMAN	W	183;183;152;148	ENSP00000362422:L183W;ENSP00000252011:L183W;ENSP00000362420:L152W;ENSP00000414630:L148W	ENSP00000252011:L183W	L	+	2	0	DHX35	37054448	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	6.825000	0.75293	2.174000	0.68829	0.533000	0.62120	TTG		0.413	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079212.2	NM_021931		G	37621034	T	G	37621034	3	3	738	1	0	0	0	0	1	0	0	0	4510	1821	63	5	574	5	DHX35	20	37621034	Missense_Mutation	SNP	T	TCGA-KN-8432-01A-11D-2310-10	2360035	37621034	25404486	118	42900											
SULF2	55959	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	20	46313215	46313215	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr20:46313215C>T	ENST00000359930.4	-	6	1699	c.848G>A	c.(847-849)cGc>cAc	p.R283H	SULF2_ENST00000467815.1_Missense_Mutation_p.R283H|CTD-2653D5.1_ENST00000526566.2_RNA|SULF2_ENST00000484875.1_Missense_Mutation_p.R283H|SULF2_ENST00000361612.4_Missense_Mutation_p.R283H	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	283					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						GGTCTGCAAGCGCTTCCGCTG	0.627																																																0													122	91	102					20																	46313215		2203	4300	6503	SO:0001583	missense	55959			AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.848G>A	20.37:g.46313215C>T	ENSP00000353007:p.Arg283His		E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Missense_Mutation	SNP	ENST00000359930.4	37	CCDS13408.1	.	.	.	.	.	.	.	.	.	.	c	35	5.558879	0.96514	.	.	ENSG00000196562	ENST00000359930;ENST00000484875;ENST00000361612;ENST00000467815	D;D;D;D	0.98684	-5.07;-5.07;-5.07;-5.07	4.76	4.76	0.60689	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.050148	0.85682	D	0.000000	D	0.99387	0.9784	H	0.94847	3.59	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.78314	0.927;0.991	D	0.98567	1.0644	10	0.87932	D	0	-23.6	18.0184	0.89248	0.0:1.0:0.0:0.0	.	283;283	Q8IWU5-2;Q8IWU5	.;SULF2_HUMAN	H	283	ENSP00000353007:R283H;ENSP00000418290:R283H;ENSP00000354662:R283H;ENSP00000418442:R283H	ENSP00000353007:R283H	R	-	2	0	SULF2	45746622	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.600000	0.82769	2.489000	0.83994	0.537000	0.68136	CGC		0.627	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837		T	46313215	C	T	46313215	3	4	738	1	0	0	0	0	1	0	0	0	15376	768	27	1	1828	1	SULF2	20	46313215	Missense_Mutation	SNP	C	TCGA-KN-8432-01A-11D-2310-10	8692181	46313215	16712305	119	42901											
KRTAP10-4	386672	hgsc.bcm.edu;mdanderson.org	37	21	45993747	45993747	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr21:45993747G>A	ENST00000400374.3	+	1	142	c.112G>A	c.(112-114)Gag>Aag	p.E38K	TSPEAR_ENST00000397916.1_5'Flank|TSPEAR_ENST00000323084.4_Intron	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	38	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						GAGCTGCTGCGAGCCCCCCTG	0.697																																																0													38	42	41					21																	45993747		1969	4113	6082	SO:0001583	missense	386672			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.112G>A	21.37:g.45993747G>A	ENSP00000383225:p.Glu38Lys		Q08AS0	Missense_Mutation	SNP	ENST00000400374.3	37	CCDS42957.1	.	.	.	.	.	.	.	.	.	.	N	16.62	3.175003	0.57692	.	.	ENSG00000215454	ENST00000400374;ENST00000334871	T	0.14766	2.48	4.69	3.8	0.43715	.	.	.	.	.	T	0.28466	0.0704	M	0.76170	2.325	0.24203	N	0.995509	D	0.76494	0.999	P	0.57911	0.829	T	0.08994	-1.0695	9	0.54805	T	0.06	.	6.9169	0.24365	0.0961:0.1791:0.7249:0.0	.	38	P60372	KR104_HUMAN	K	38;27	ENSP00000383225:E38K	ENSP00000333987:E27K	E	+	1	0	KRTAP10-4	44818175	0.116000	0.22171	0.987000	0.45799	0.411000	0.31082	1.362000	0.34148	1.080000	0.41073	-0.458000	0.05436	GAG		0.697	KRTAP10-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128045.1	NM_198687		A	45993747	G	A	45993747	3	1	738	1	0	0	0	0	1	0	0	0	8513	1059	37	1	114	1	KRTAP10-4	21	45993747	Missense_Mutation	SNP	G	TCGA-KN-8432-01A-11D-2310-10		45993747	2136148	120	42902											
KRTAP10-6	386674	mdanderson.org	37	21	46011324	46011324	+	Missense_Mutation	SNP	T	T	C	rs1785472		TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr21:46011324T>C	ENST00000400368.1	-	1	1062	c.1042A>G	c.(1042-1044)Atg>Gtg	p.M348V	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	348						keratin filament (GO:0045095)		p.M348V(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						CGGGAGCACATGGGGCGGCAG	0.682																																																1	Substitution - Missense(1)	prostate(1)											47	59	55					21																	46011324		2197	4300	6497	SO:0001583	missense	386674			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.1042A>G	21.37:g.46011324T>C	ENSP00000383219:p.Met348Val			Missense_Mutation	SNP	ENST00000400368.1	37	CCDS42959.1	.	.	.	.	.	.	.	.	.	.	c	0.001	-3.992851	0.00002	.	.	ENSG00000188155	ENST00000400368	T	0.00686	5.85	2.84	-5.55	0.02536	.	.	.	.	.	T	0.00210	0.0006	N	0.00230	-1.795	0.09310	N	1	B	0.14805	0.011	B	0.01281	0.0	T	0.38672	-0.9650	9	0.02654	T	1	.	1.9179	0.03301	0.1134:0.3558:0.2249:0.306	.	348	P60371	KR106_HUMAN	V	348	ENSP00000383219:M348V	ENSP00000383219:M348V	M	-	1	0	KRTAP10-6	44835752	0.000000	0.05858	0.002000	0.10522	0.006000	0.05464	-4.157000	0.00283	-1.772000	0.01292	-2.665000	0.00146	ATG		0.682	KRTAP10-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128037.1	NM_198688		C	46011324	T	C	46011324	3	2	738	1	0	0	0	0	1	0	0	0	8515	1464	51	3	59	3	KRTAP10-6	21	46011324	Missense_Mutation	SNP	T	TCGA-KN-8432-01A-11D-2310-10	17577	46011324	2118571	121	42903											
KRTAP10-12	386685	broad.mit.edu	37	21	46117243	46117243	+	Missense_Mutation	SNP	G	G	A	rs199900483		TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr21:46117243G>A	ENST00000400365.3	+	1	157	c.127G>A	c.(127-129)Gcc>Acc	p.A43T	TSPEAR_ENST00000323084.4_Intron	NM_198699.1	NP_941972.1	P60413	KR10C_HUMAN	keratin associated protein 10-12	43	19 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				large_intestine(1)|lung(8)	9						CCCCTGCTGCGCCCCGGCCCC	0.677																																																0								G	,THR/ALA	0,4172		0,0,2086	44	52	49		,127	0.5	0.7	21		49	2,8452		0,2,4225	no	intron,missense	TSPEAR,KRTAP10-12	NM_144991.2,NM_198699.1	,58	0,2,6311	AA,AG,GG		0.0237,0.0,0.0158	,probably-damaging	,43/246	46117243	2,12624	2086	4227	6313	SO:0001583	missense	386685			AB076364	CCDS42967.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000189169	ENSG00000189169		"Keratin associated proteins"	20533	protein-coding gene	gene with protein product			"keratin associated protein 18-12"	KRTAP18-12			Standard	NM_198699		Approved	KRTAP18.12, KAP10.12	uc002zfw.1	P60413	OTTHUMG00000057629	ENST00000400365.3:c.127G>A	21.37:g.46117243G>A	ENSP00000383216:p.Ala43Thr		B2RPA3	Missense_Mutation	SNP	ENST00000400365.3	37	CCDS42967.1	.	.	.	.	.	.	.	.	.	.	N	7.053	0.564762	0.13498	0.0	2.37E-4	ENSG00000189169	ENST00000400365	T	0.04654	3.58	3.61	0.506	0.16961	.	.	.	.	.	T	0.03305	0.0096	N	0.20986	0.625	0.22446	N	0.999096	B	0.09022	0.002	B	0.04013	0.001	T	0.43861	-0.9365	9	0.39692	T	0.17	.	4.6012	0.12354	0.216:0.3464:0.4376:0.0	.	43	P60413	KR10C_HUMAN	T	43	ENSP00000383216:A43T	ENSP00000383216:A43T	A	+	1	0	KRTAP10-12	44941671	.	.	0.700000	0.30305	0.237000	0.25408	.	.	-0.159000	0.11021	-0.736000	0.03550	GCC		0.677	KRTAP10-12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128032.1	NM_198699		A	46117243	G	A	46117243	3	1	738	1	0	0	0	0	1	0	0	0	8510	1087	38	1	129	1	KRTAP10-12	21	46117243	Missense_Mutation	SNP	G	TCGA-KN-8432-01A-11D-2310-10	105919	46117243	2012652	122	42904											
PHF5A	84844	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	22	41863526	41863526	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr22:41863526G>A	ENST00000216252.3	-	3	240	c.169C>T	c.(169-171)Cgc>Tgc	p.R57C	ACO2_ENST00000396512.3_5'Flank|ACO2_ENST00000216254.4_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)											1	Substitution - Missense(1)	central_nervous_system(1)											104	85	91					22																	41863526		2203	4300	6503	SO:0001583	missense	84844			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		Q9UH06	Missense_Mutation	SNP	ENST00000216252.3	37	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		A	41863526	G	A	41863526	3	1	738	1	0	0	0	0	1	0	0	0	11839	1087	38	1	171	1	PHF5A	22	41863526	Missense_Mutation	SNP	G	TCGA-KN-8432-01A-11D-2310-10		41863526	9441040	123	42905											
ODF3B	440836	hgsc.bcm.edu	37	22	50970068	50970068	+	Missense_Mutation	SNP	C	C	T	rs141953471	byFrequency	TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr22:50970068C>T	ENST00000428989.2	-	2	243	c.244G>A	c.(244-246)Gac>Aac	p.D82N	TYMP_ENST00000395678.3_5'Flank|ODF3B_ENST00000329363.4_Missense_Mutation_p.D82N|TYMP_ENST00000395681.1_5'Flank|TYMP_ENST00000252029.3_5'Flank|TYMP_ENST00000395680.1_5'Flank|ODF3B_ENST00000401779.1_Missense_Mutation_p.R58Q|ODF3B_ENST00000403326.1_Intron|ODF3B_ENST00000405135.1_Missense_Mutation_p.D82N			A8MYP8	ODF3B_HUMAN	outer dense fiber of sperm tails 3B	82										lung(2)	2						GGGGCGCCGTCGGTGCCGCGC	0.761													C|||	91	0.0181709	0.0159	0.0144	5008	,	,		9314	0.0		0.0487	False		,,,				2504	0.0112															0								C	ASN/ASP	68,3178		1,66,1556	3	5	5		244	3.1	0	22	dbSNP_134	5	281,6899		5,271,3314	no	missense	ODF3B	NM_001014440.3	23	6,337,4870	TT,TC,CC		3.9136,2.0949,3.3474	possibly-damaging	82/254	50970068	349,10077	1623	3590	5213	SO:0001583	missense	440836				CCDS43039.1	22q13.33	2008-10-24			ENSG00000177989	ENSG00000177989			34388	protein-coding gene	gene with protein product							Standard	NM_001014440		Approved		uc003bmh.2	A8MYP8	OTTHUMG00000150334	ENST00000428989.2:c.244G>A	22.37:g.50970068C>T	ENSP00000390712:p.Asp82Asn		A0PK18	Missense_Mutation	SNP	ENST00000428989.2	37	CCDS43039.1	58|58	0.026556776556776556|0.026556776556776556	15|15	0.03048780487804878|0.03048780487804878	8|8	0.022099447513812154|0.022099447513812154	0|0	0.0|0.0	35|35	0.04617414248021108|0.04617414248021108	C|C	13.50|13.50	2.254753|2.254753	0.39896|0.39896	0.020949|0.020949	0.039136|0.039136	ENSG00000177989|ENSG00000177989	ENST00000329363;ENST00000405135;ENST00000428989|ENST00000401779;ENST00000438960	T;T;T|.	0.34472|.	1.39;1.36;1.39|.	4.1|4.1	3.06|3.06	0.35304|0.35304	.|.	.|.	.|.	.|.	.|.	T|T	0.09379|0.09379	0.0231|0.0231	M|M	0.75615|0.75615	2.305|2.305	0.09310|0.09310	N|N	1|1	P|P	0.44090|0.46020	0.826|0.871	B|B	0.37047|0.39258	0.24|0.295	T|T	0.06588|0.06588	-1.0818|-1.0818	9|8	0.34782|0.56958	T|D	0.22|0.05	-5.2376|-5.2376	9.2168|9.2168	0.37353|0.37353	0.2168:0.7832:0.0:0.0|0.2168:0.7832:0.0:0.0	.|.	82|58	A8MYP8|B5MD02	ODF3B_HUMAN|.	N|Q	82|58;48	ENSP00000382804:D82N;ENSP00000384012:D82N;ENSP00000390712:D82N|.	ENSP00000382804:D82N|ENSP00000384310:R58Q	D|R	-|-	1|2	0|0	ODF3B|ODF3B	49316934|49316934	0.945000|0.945000	0.32115|0.32115	0.004000|0.004000	0.12327|0.12327	0.192000|0.192000	0.23643|0.23643	2.862000|2.862000	0.48388|0.48388	1.033000|1.033000	0.39918|0.39918	0.462000|0.462000	0.41574|0.41574	GAC|CGA		0.761	ODF3B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317626.2			T	50970068	C	T	50970068	3	4	738	1	0	0	0	0	1	0	0	0	10832	884	31	1	537	1	ODF3B	22	50970068	Missense_Mutation	SNP	C	TCGA-KN-8432-01A-11D-2310-10	9106542	50970068	334498	124	42906											
EIF2S3	1968	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	X	24075766	24075766	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chrX:24075766A>G	ENST00000253039.4	+	4	531	c.278A>G	c.(277-279)gAc>gGc	p.D93G		NM_001415.3	NP_001406.1	P41091	IF2G_HUMAN	eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa	93	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1)	12						AAGCTTGATGACCCAAGTTGC	0.383																																																0													64	65	65					X																	24075766		2203	4300	6503	SO:0001583	missense	1968			L19161	CCDS14210.1	Xp22.2-p22.1	2008-07-31	2002-08-29		ENSG00000130741	ENSG00000130741			3267	protein-coding gene	gene with protein product	"eukaryotic translation initiation factor 2G"	300161	"eukaryotic translation initiation factor 2, subunit 3 (gamma, 52kD)"	EIF2G		8106381, 9736774	Standard	NM_001415		Approved	EIF2gamma, EIF2	uc004dbc.3	P41091	OTTHUMG00000021262	ENST00000253039.4:c.278A>G	X.37:g.24075766A>G	ENSP00000253039:p.Asp93Gly		B5BTZ4	Missense_Mutation	SNP	ENST00000253039.4	37	CCDS14210.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.25|16.25	3.071171|3.071171	0.55646|0.55646	.|.	.|.	ENSG00000130741|ENSG00000130741	ENST00000253039|ENST00000423068	T|.	0.64803|.	-0.12|.	5.03|5.03	5.03|5.03	0.67393|0.67393	Protein synthesis factor, GTP-binding (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.74898|.	0.3777|.	M|M	0.78916|0.78916	2.43|2.43	0.80722|0.80722	D|D	1|1	B|.	0.06786|.	0.001|.	B|.	0.10450|.	0.005|.	T|.	0.76498|.	-0.2937|.	10|.	0.54805|.	T|.	0.06|.	.|.	14.0831|14.0831	0.64937|0.64937	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	93|.	P41091|.	IF2G_HUMAN|.	G|W	93|92	ENSP00000253039:D93G|.	ENSP00000253039:D93G|.	D|X	+|+	2|3	0|0	EIF2S3|EIF2S3	23985687|23985687	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	8.806000|8.806000	0.91930|0.91930	1.771000|1.771000	0.52183|0.52183	0.417000|0.417000	0.27973|0.27973	GAC|TGA		0.383	EIF2S3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056079.1	NM_001415		G	24075766	A	G	24075766	3	3	738	1	0	0	0	0	1	0	0	0	5013	275	10	3	292	3	EIF2S3	23	24075766	Missense_Mutation	SNP	A	TCGA-KN-8432-01A-11D-2310-10		24075766	131194794	125	42907											
FAM47A	158724	bcgsc.ca	37	X	34148877	34148877	+	Missense_Mutation	SNP	C	C	G	rs5973088		TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chrX:34148877C>G	ENST00000346193.3	-	1	1570	c.1519G>C	c.(1519-1521)Gag>Cag	p.E507Q		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	507			Missing. {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.					p.E507Q(1)		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						TTGGGAGGCTCCGAGCGGAGA	0.647																																																1	Substitution - Missense(1)	kidney(1)											29	29	29					X																	34148877		2181	4247	6428	SO:0001583	missense	158724			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.1519G>C	X.37:g.34148877C>G	ENSP00000345029:p.Glu507Gln		A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	CCDS43926.1	6	0.003616636528028933	2	0.0040650406504065045	3	0.008287292817679558	0	0.0	2	0.002638522427440633	c	9.299	1.052687	0.19907	.	.	ENSG00000185448	ENST00000346193	T	0.14391	2.51	0.226	0.226	0.15353	.	.	.	.	.	T	0.05227	0.0139	L	0.27053	0.805	0.09310	N	1	B	0.24483	0.104	B	0.16722	0.016	T	0.41466	-0.9507	8	0.17832	T	0.49	.	.	.	.	rs5973088	507	Q5JRC9	FA47A_HUMAN	Q	507	ENSP00000345029:E507Q	ENSP00000345029:E507Q	E	-	1	0	FAM47A	34058798	0.053000	0.20554	0.000000	0.03702	0.001000	0.01503	1.713000	0.37951	0.283000	0.22279	0.287000	0.19450	GAG		0.647	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		G	34148877	C	G	34148877	3	3	738	1	0	0	0	0	1	0	0	0	5571	864	30	4	860	4	FAM47A	23	34148877	Missense_Mutation	SNP	C	TCGA-KN-8432-01A-11D-2310-10	10073111	34148877	121121683	126	42908											
FAM47C	442444	broad.mit.edu	37	X	37028121	37028121	+	Silent	SNP	C	C	T			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chrX:37028121C>T	ENST00000358047.3	+	1	1690	c.1638C>T	c.(1636-1638)ctC>ctT	p.L546L		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	546										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						TATCTCATCTCCGCCCAGAGC	0.607																																																0													70	74	72					X																	37028121		2202	4300	6502	SO:0001819	synonymous_variant	442444			AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1638C>T	X.37:g.37028121C>T			Q6ZU46	Silent	SNP	ENST00000358047.3	37	CCDS35227.1																																																																																				0.607	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		T	37028121	C	T	37028121	2	4	738	1	0	0	0	0	0	0	0	1	5573	842	30	2		2	FAM47C	23	37028121	Silent	SNP	C	TCGA-KN-8432-01A-11D-2310-10	2879244	37028121	118242439	127	42909											
MAGED2	10916	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	X	54837700	54837700	+	Silent	SNP	G	G	A			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chrX:54837700G>A	ENST00000375068.1	+	5	1097	c.864G>A	c.(862-864)aaG>aaA	p.K288K	MAGED2_ENST00000375062.4_Silent_p.K203K|MAGED2_ENST00000375053.2_Silent_p.K288K|MAGED2_ENST00000347546.4_Silent_p.K270K|MAGED2_ENST00000375058.1_Silent_p.K288K|MAGED2_ENST00000375060.1_Silent_p.K203K|MAGED2_ENST00000218439.4_Silent_p.K288K|MAGED2_ENST00000396224.1_Silent_p.K288K			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	288	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					membrane (GO:0016020)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						ATTTGGTGAAGTACCTTTTGG	0.478																																																0													131	115	121					X																	54837700		2203	4300	6503	SO:0001819	synonymous_variant	10916			AF128527	CCDS14362.1	Xp11.2	2008-08-01			ENSG00000102316	ENSG00000102316			16353	protein-coding gene	gene with protein product	"hepatocellular carcinoma associated protein", "breast cancer associated gene 1", "melanoma-associated antigen D2", "hepatocellular carcinoma-associated protein HCA10"	300470					Standard	NM_014599		Approved	JCL-1, BCG1, 11B6, MAGE-D2, HCA10, MAGED, MGC8386	uc004dtk.1	Q9UNF1	OTTHUMG00000021638	ENST00000375068.1:c.864G>A	X.37:g.54837700G>A			A6NMX0|O76058|Q5BJF3|Q8NAL6|Q9H218|Q9P0U9|Q9UM52	Silent	SNP	ENST00000375068.1	37	CCDS14362.1																																																																																				0.478	MAGED2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056821.2	NM_014599		A	54837700	G	A	54837700	2	1	738	1	0	0	0	0	0	0	0	1	9186	1020	36	2		2	MAGED2	23	54837700	Silent	SNP	G	TCGA-KN-8432-01A-11D-2310-10	17809579	54837700	100432860	128	42910											
RBMX	27316	mdanderson.org	37	X	135960230	135960230	+	Missense_Mutation	SNP	C	C	T	rs199717308		TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chrX:135960230C>T	ENST00000320676.7	-	4	386	c.232G>A	c.(232-234)Gcc>Acc	p.A78T	RBMX_ENST00000562646.1_Missense_Mutation_p.A78T|RBMX_ENST00000565438.1_5'UTR|RBMX_ENST00000431446.3_Intron|SNORD61_ENST00000384252.1_RNA|RBMX_ENST00000570135.1_Intron	NM_002139.3	NP_002130.2	P38159	RBMX_HUMAN	RNA binding motif protein, X-linked	78	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to interleukin-1 (GO:0071347)|gene expression (GO:0010467)|membrane protein ectodomain proteolysis (GO:0006509)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|osteoblast differentiation (GO:0001649)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|supraspliceosomal complex (GO:0044530)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.A78T(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					ACCTTGATGGCTTTTCCATCT	0.398																																																1	Substitution - Missense(1)	prostate(1)											30	27	28					X																	135960230		2203	4300	6503	SO:0001583	missense	27316				CCDS14661.1, CCDS55510.1	Xq26	2013-05-23	2003-09-12		ENSG00000147274	ENSG00000147274		"RNA binding motif (RRM) containing"	9910	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein G"	300199	"RNA binding motif protein, X chromosome"			10391206, 10391207	Standard	NM_002139		Approved	RNMX, hnRNP-G, HNRNPG	uc004fae.2	P38159	OTTHUMG00000022517	ENST00000320676.7:c.232G>A	X.37:g.135960230C>T	ENSP00000359645:p.Ala78Thr		B4E3U4|D3DWH0|E9PG86|Q5JQ67|Q8N8Y7|Q969R3	Missense_Mutation	SNP	ENST00000320676.7	37	CCDS14661.1	.	.	.	.	.	.	.	.	.	.	.	11.06	1.528254	0.27299	.	.	ENSG00000147274	ENST00000320676;ENST00000449161	T	0.15139	2.45	5.15	4.19	0.49359	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.364756	0.24165	U	0.040949	T	0.06781	0.0173	N	0.01168	-0.975	0.80722	D	1	B;B	0.11235	0.001;0.004	B;B	0.14023	0.01;0.01	T	0.28170	-1.0052	10	0.35671	T	0.21	.	13.8269	0.63357	0.1641:0.8359:0.0:0.0	.	78;65	P38159;Q8N8Y7	HNRPG_HUMAN;.	T	78;65	ENSP00000359645:A78T	ENSP00000359645:A78T	A	-	1	0	RBMX	135787896	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	3.150000	0.50662	2.132000	0.65825	0.504000	0.49776	GCC		0.398	RBMX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058507.1	NM_002139		T	135960230	C	T	135960230	3	4	738	1	0	0	0	0	1	0	0	0	13157	797	28	2	1022	2	RBMX	23	135960230	Missense_Mutation	SNP	C	TCGA-KN-8432-01A-11D-2310-10	81122530	135960230	19310330	129	42911											
RER1	11079	mdanderson.org	37	1	2333768	2333768	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr1:2333768A>G	ENST00000605895.1	+	6	621	c.488A>G	c.(487-489)aAg>aGg	p.K163R	RER1_ENST00000378512.1_3'UTR|RER1_ENST00000378513.3_3'UTR|RER1_ENST00000488353.1_Missense_Mutation_p.K163R	NM_007033.4	NP_008964.3	O15258	RER1_HUMAN	retention in endoplasmic reticulum sorting receptor 1	163				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)		ATCACGATGAAGAGGCAAATC	0.557																																																0													114	117	116					1																	2333768		2096	4224	6320	SO:0001583	missense	11079			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.488A>G	1.37:g.2333768A>G	ENSP00000475168:p.Lys163Arg		O95322	Missense_Mutation	SNP	ENST00000605895.1	37	CCDS41232.1	.	.	.	.	.	.	.	.	.	.	A	13.12	2.142674	0.37825	.	.	ENSG00000157916	ENST00000306256;ENST00000434662	.	.	.	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.47358	0.1441	L	0.33668	1.02	0.80722	D	1	B	0.33857	0.429	B	0.39531	0.302	T	0.37731	-0.9693	9	0.06757	T	0.87	.	14.2383	0.65941	1.0:0.0:0.0:0.0	.	163	O15258	RER1_HUMAN	R	163	.	ENSP00000302088:K163R	K	+	2	0	RER1	2323628	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	8.127000	0.89593	1.979000	0.57680	0.383000	0.25322	AAG		0.557	RER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004061.2			G	2333768	A	G	2333768	3	3	739	1	0	0	0	0	1	0	0	0	13236	72	3	3	506	3	RER1	1	2333768	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10		2333768	246916853	1	42912											
KDM1A	23028	mdanderson.org	37	1	23408744	23408744	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr1:23408744C>T	ENST00000356634.3	+	18	2407	c.2258C>T	c.(2257-2259)gCt>gTt	p.A753V	KDM1A_ENST00000542151.1_Missense_Mutation_p.A777V|KDM1A_ENST00000400181.4_Missense_Mutation_p.A777V|RP1-184J9.2_ENST00000427154.1_RNA	NM_015013.3	NP_055828.2	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	753	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						CGTTGGCGTGCTGATCCCTGG	0.473																																																0													103	91	95					1																	23408744		2203	4300	6503	SO:0001583	missense	23028			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.2258C>T	1.37:g.23408744C>T	ENSP00000349049:p.Ala753Val		A8MWP9|Q5TH94|Q5TH95|Q86VT7|Q8IXK4|Q8NDP6|Q8TAZ3|Q96AW4	Missense_Mutation	SNP	ENST00000356634.3	37	CCDS30627.1	.	.	.	.	.	.	.	.	.	.	C	35	5.451613	0.96205	.	.	ENSG00000004487	ENST00000356634;ENST00000400181;ENST00000542151	T;T;T	0.10382	2.88;2.88;2.88	5.93	5.01	0.66863	Amine oxidase (1);	0.000000	0.85682	D	0.000000	T	0.24044	0.0582	L	0.53561	1.675	0.80722	D	1	D;D	0.71674	0.998;0.997	P;P	0.59012	0.787;0.85	T	0.00054	-1.2182	10	0.59425	D	0.04	-18.7936	14.6427	0.68737	0.0:0.9295:0.0:0.0705	.	777;753	O60341-2;O60341	.;KDM1A_HUMAN	V	753;777;777	ENSP00000349049:A753V;ENSP00000383042:A777V;ENSP00000439072:A777V	ENSP00000349049:A753V	A	+	2	0	KDM1A	23281331	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.818000	0.86416	2.826000	0.97356	0.655000	0.94253	GCT		0.473	KDM1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008880.3	NM_015013		T	23408744	C	T	23408744	3	4	739	1	0	0	0	0	1	0	0	0	8124	797	28	2	2408	2	KDM1A	1	23408744	Missense_Mutation	SNP	C	TCGA-KN-8433-01A-11D-2310-10	21074976	23408744	225841877	2	42913											
CNR2	1269	mdanderson.org	37	1	24201162	24201162	+	Missense_Mutation	SNP	G	G	A	rs2229579	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr1:24201162G>A	ENST00000374472.4	-	2	1107	c.946C>T	c.(946-948)Cac>Tac	p.H316Y	CNR2_ENST00000536471.1_Missense_Mutation_p.H316Y	NM_001841.2	NP_001832.1	P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	316			H -> Y (in dbSNP:rs2229579). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:18286196, ECO:0000269|Ref.5}.		G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of action potential (GO:0045759)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|response to amphetamine (GO:0001975)|response to lipopolysaccharide (GO:0032496)|sensory perception of pain (GO:0019233)	dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		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;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Dronabinol(DB00470)|Nabilone(DB00486)	TTCTTCCAGTGAGCCAGGCAG	0.552													G|||	538	0.107428	0.0045	0.1081	5008	,	,		21093	0.2143		0.0885	False		,,,				2504	0.1554															0								G	TYR/HIS	105,4301	80.9+/-119.3	2,101,2100	93	95	94		946	0.7	0	1	dbSNP_98	94	859,7741	197.3+/-242.0	34,791,3475	yes	missense	CNR2	NM_001841.2	83	36,892,5575	AA,AG,GG		9.9884,2.3831,7.412	benign	316/361	24201162	964,12042	2203	4300	6503	SO:0001583	missense	1269			X74328	CCDS245.1	1p	2012-08-08			ENSG00000188822	ENSG00000188822		"GPCR / Class A : Cannabinoid receptors"	2160	protein-coding gene	gene with protein product		605051					Standard	NM_001841		Approved	CB2	uc001bif.3	P34972	OTTHUMG00000013892	ENST00000374472.4:c.946C>T	1.37:g.24201162G>A	ENSP00000363596:p.His316Tyr		C6ES44|Q4VBK8|Q5JRH7|Q6B0G7|Q6NSY0	Missense_Mutation	SNP	ENST00000374472.4	37	CCDS245.1	219	0.10027472527472528	1	0.0020325203252032522	30	0.08287292817679558	119	0.20804195804195805	69	0.09102902374670185	G	0.505	-0.868974	0.02570	0.023831	0.099884	ENSG00000188822	ENST00000374472;ENST00000536471	T;T	0.36878	1.23;1.23	5.21	0.728	0.18260	.	1.823760	0.02519	N	0.092394	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	B	0.30870	0.298	B	0.24974	0.057	T	0.11397	-1.0589	9	0.12430	T	0.62	.	4.3273	0.11046	0.0722:0.2569:0.4207:0.2501	rs2229579;rs3820021;rs52824290;rs2229579	316	P34972	CNR2_HUMAN	Y	316	ENSP00000363596:H316Y;ENSP00000442830:H316Y	ENSP00000363596:H316Y	H	-	1	0	CNR2	24073749	0.000000	0.05858	0.006000	0.13384	0.092000	0.18411	0.023000	0.13533	0.151000	0.19162	0.563000	0.77884	CAC		0.552	CNR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038949.1	NM_001841		A	24201162	G	A	24201162	3	1	739	1	0	0	0	0	1	0	0	0	3634	1290	45	2	140	2	CNR2	1	24201162	Missense_Mutation	SNP	G	TCGA-KN-8433-01A-11D-2310-10	792418	24201162	225049459	3	42914											
NASP	4678	mdanderson.org	37	1	46073372	46073372	+	Missense_Mutation	SNP	G	G	C	rs202027114		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr1:46073372G>C	ENST00000350030.3	+	6	876	c.789G>C	c.(787-789)caG>caC	p.Q263H	NASP_ENST00000351223.3_Intron|NASP_ENST00000372052.4_Intron|NASP_ENST00000402363.3_Missense_Mutation_p.Q265H|NASP_ENST00000537798.1_Missense_Mutation_p.Q199H	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	263	Glu-rich (acidic).				blastocyst development (GO:0001824)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone exchange (GO:0043486)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	Hsp90 protein binding (GO:0051879)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					AGGAGAAGCAGGGAGAGGTAA	0.478																																																0													44	47	46					1																	46073372		2203	4300	6503	SO:0001583	missense	4678			M97856	CCDS524.1, CCDS525.1, CCDS55597.1	1p34.1	2013-01-10			ENSG00000132780	ENSG00000132780		"Tetratricopeptide (TTC) repeat domain containing"	7644	protein-coding gene	gene with protein product		603185				1426632	Standard	NM_002482		Approved	FLB7527, FLJ31599, FLJ35510, MGC19722, MGC20372, MGC2297, DKFZp547F162, PRO1999	uc001coi.2	P49321	OTTHUMG00000007826	ENST00000350030.3:c.789G>C	1.37:g.46073372G>C	ENSP00000255120:p.Gln263His		A8K6H2|B4DQP3|D3DQ07|F5H3J2|Q53GW5|Q5T622|Q5T625|Q96A69|Q9BTW2	Missense_Mutation	SNP	ENST00000350030.3	37	CCDS524.1	.	.	.	.	.	.	.	.	.	.	G	11.36	1.615555	0.28801	.	.	ENSG00000132780	ENST00000537798;ENST00000402363;ENST00000341288;ENST00000350030;ENST00000470768	D;D;D;D	0.94650	-3.48;-3.48;-3.48;-3.48	5.37	5.37	0.77165	.	0.433338	0.26122	N	0.026214	D	0.92113	0.7500	N	0.17082	0.46	0.32940	D	0.518256	D;D;D;D;D	0.69078	0.994;0.996;0.997;0.99;0.994	P;D;D;P;P	0.64321	0.861;0.924;0.924;0.73;0.861	D	0.90293	0.4324	9	.	.	.	-5.1147	6.1073	0.20081	0.113:0.0:0.6989:0.188	.	199;263;163;263;265	F5H3J2;Q53H03;B4DS57;P49321;P49321-3	.;.;.;NASP_HUMAN;.	H	199;265;163;263;226	ENSP00000438871:Q199H;ENSP00000384529:Q265H;ENSP00000255120:Q263H;ENSP00000436924:Q226H	.	Q	+	3	2	NASP	45845959	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.932000	0.48940	2.902000	0.99343	0.650000	0.86243	CAG		0.478	NASP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021533.2	NM_002482		C	46073372	G	C	46073372	3	2	739	1	0	0	0	0	1	0	0	0	10174	991	35	4	888	4	NASP	1	46073372	Missense_Mutation	SNP	G	TCGA-KN-8433-01A-11D-2310-10	21872210	46073372	203177249	4	42915											
ZZZ3	26009	mdanderson.org	37	1	78097667	78097667	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr1:78097667T>C	ENST00000370801.3	-	5	1848	c.1373A>G	c.(1372-1374)gAg>gGg	p.E458G	ZZZ3_ENST00000370798.1_Intron|ZZZ3_ENST00000476275.1_5'UTR	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	458					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						GAGTCTTGCCTCTGAGGGTGG	0.388																																																0													177	163	168					1																	78097667		2203	4300	6503	SO:0001583	missense	26009			AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"Zinc fingers, ZZ-type"	24523	protein-coding gene	gene with protein product	"ATAC component 1 homolog (Drosophila)"					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.1373A>G	1.37:g.78097667T>C	ENSP00000359837:p.Glu458Gly		B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Missense_Mutation	SNP	ENST00000370801.3	37	CCDS677.1	.	.	.	.	.	.	.	.	.	.	T	12.74	2.029389	0.35797	.	.	ENSG00000036549	ENST00000370801	.	.	.	5.74	5.74	0.90152	.	0.136480	0.56097	D	0.000039	T	0.70159	0.3192	L	0.56769	1.78	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.76575	0.988;0.922;0.964	T	0.69903	-0.5019	8	.	.	.	.	16.3545	0.83230	0.0:0.0:0.0:1.0	.	458;458;458	Q8IYH5-4;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	G	458	.	.	E	-	2	0	ZZZ3	77870255	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	6.785000	0.75089	2.326000	0.78906	0.533000	0.62120	GAG		0.388	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026615.1	NM_015534		C	78097667	T	C	78097667	3	2	739	1	0	0	0	0	1	0	0	0	18261	1551	54	3	1382	3	ZZZ3	1	78097667	Missense_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10	32024295	78097667	171152954	5	42916											
USP33	23032	mdanderson.org	37	1	78177501	78177501	+	Silent	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr1:78177501A>G	ENST00000370793.1	-	22	2776	c.2430T>C	c.(2428-2430)tgT>tgC	p.C810C	USP33_ENST00000357428.1_Silent_p.C810C|USP33_ENST00000370794.3_Silent_p.C779C|USP33_ENST00000370792.3_Silent_p.C802C	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	810	DUSP 1. {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						GGCAAGTATGACAAATGTACA	0.318																																					Melanoma(152;72 1870 11110 26780 42647)											0													39	42	41					1																	78177501		2203	4299	6502	SO:0001819	synonymous_variant	23032			AF383173	CCDS678.1, CCDS679.1, CCDS680.1	1p31	2008-02-05	2005-08-08		ENSG00000077254	ENSG00000077254		"Ubiquitin-specific peptidases"	20059	protein-coding gene	gene with protein product		615146	"ubiquitin specific protease 33"			12838346	Standard	NM_015017		Approved	KIAA1097, VDU1	uc001dht.4	Q8TEY7	OTTHUMG00000009651	ENST00000370793.1:c.2430T>C	1.37:g.78177501A>G			Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	Silent	SNP	ENST00000370793.1	37	CCDS678.1	.	.	.	.	.	.	.	.	.	.	A	9.652	1.141738	0.21205	.	.	ENSG00000077254	ENST00000481579	.	.	.	5.37	1.67	0.24075	.	.	.	.	.	T	0.43299	0.1241	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33007	-0.9885	4	.	.	.	.	8.8392	0.35131	0.6413:0.0:0.3587:0.0	.	.	.	.	A	415	.	.	V	-	2	0	USP33	77950089	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.248000	0.43160	0.392000	0.25172	0.533000	0.62120	GTC		0.318	USP33-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026923.2	NM_015017		G	78177501	A	G	78177501	2	3	739	1	0	0	0	0	0	0	0	1	17069	273	10	3		3	USP33	1	78177501	Silent	SNP	A	TCGA-KN-8433-01A-11D-2310-10	79834	78177501	171073120	6	42917											
CELF3	11189	mdanderson.org	37	1	151678746	151678746	+	Silent	SNP	C	C	T			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr1:151678746C>T	ENST00000290583.4	-	10	1873	c.1080G>A	c.(1078-1080)caG>caA	p.Q360Q	CELF3_ENST00000392706.3_Silent_p.Q155Q|RP11-98D18.1_ENST00000457548.1_RNA|CELF3_ENST00000470688.1_5'UTR|CELF3_ENST00000290585.4_Silent_p.Q310Q	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	360	Gln-rich.				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						gctgctgctgctgttgAGGTG	0.652																																																0													19	21	20					1																	151678746		2199	4294	6493	SO:0001819	synonymous_variant	11189			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.1080G>A	1.37:g.151678746C>T			B7ZKK6|O15414|Q499Y6|Q5SZQ7|Q6NVK0|Q8IZ98|Q9BZC2|Q9HB30	Silent	SNP	ENST00000290583.4	37	CCDS1002.1	.	.	.	.	.	.	.	.	.	.	.	8.446	0.851874	0.17034	.	.	ENSG00000159409	ENST00000420342	.	.	.	4.18	3.18	0.36537	.	.	.	.	.	T	0.45994	0.1370	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41910	-0.9482	4	.	.	.	-1.649	8.7523	0.34622	0.0:0.876:0.0:0.124	.	.	.	.	N	361	.	.	S	-	2	0	CELF3	149945370	.	.	1.000000	0.80357	0.943000	0.58893	.	.	2.183000	0.69458	0.655000	0.94253	AGC		0.652	CELF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036663.2	NM_007185		T	151678746	C	T	151678746	2	4	739	1	0	0	0	0	0	0	0	1	3219	796	28	2		2	CELF3	1	151678746	Silent	SNP	C	TCGA-KN-8433-01A-11D-2310-10	73501245	151678746	97571875	7	42918											
FLG2	388698	mdanderson.org	37	1	152325171	152325171	+	Silent	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr1:152325171T>C	ENST00000388718.5	-	3	5163	c.5091A>G	c.(5089-5091)ggA>ggG	p.G1697G	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1697					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)			CTCCTGTCTGTCCATGAGTAG	0.493																																																0													413	360	378					1																	152325171		2203	4300	6503	SO:0001819	synonymous_variant	388698			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.5091A>G	1.37:g.152325171T>C			Q9H4U1	Silent	SNP	ENST00000388718.5	37	CCDS30861.1																																																																																				0.493	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		C	152325171	T	C	152325171	2	2	739	1	0	0	0	0	0	0	0	1	5925	1654	58	3		3	FLG2	1	152325171	Silent	SNP	T	TCGA-KN-8433-01A-11D-2310-10	646425	152325171	96925450	8	42919											
ATP8B2	57198	mdanderson.org	37	1	154315311	154315311	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr1:154315311G>A	ENST00000368489.3	+	15	1426	c.1426G>A	c.(1426-1428)Gac>Aac	p.D476N		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	462					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	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)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TCCTCTGGCTGACAAGAAGTT	0.542																																																0													92	89	90					1																	154315311		2203	4300	6503	SO:0001583	missense	57198			AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"ATPases / P-type"	13534	protein-coding gene	gene with protein product		605867	"ATPase, class I, type 8B, member 2"			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.1426G>A	1.37:g.154315311G>A	ENSP00000357475:p.Asp476Asn		B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Missense_Mutation	SNP	ENST00000368489.3	37	CCDS1066.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.733878	0.89482	.	.	ENSG00000143515	ENST00000368489	T	0.61859	0.07	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.67107	0.2858	M	0.62266	1.93	0.80722	D	1	D	0.59767	0.986	D	0.63283	0.913	T	0.65780	-0.6085	10	0.49607	T	0.09	.	18.3169	0.90224	0.0:0.0:1.0:0.0	.	476	P98198-3	.	N	476	ENSP00000357475:D476N	ENSP00000357475:D476N	D	+	1	0	ATP8B2	152581935	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	7.697000	0.84279	2.808000	0.96608	0.655000	0.94253	GAC		0.542	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2	NM_020452		A	154315311	G	A	154315311	3	1	739	1	0	0	0	0	1	0	0	0	1195	1290	45	2	1614	2	ATP8B2	1	154315311	Missense_Mutation	SNP	G	TCGA-KN-8433-01A-11D-2310-10	1990140	154315311	94935310	9	42920											
SELL	6402	mdanderson.org	37	1	169673838	169673838	+	Missense_Mutation	SNP	G	G	A	rs2229569	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr1:169673838G>A	ENST00000236147.4	-	5	836	c.676C>T	c.(676-678)Cct>Tct	p.P226S	C1orf112_ENST00000498289.1_Intron|SELL_ENST00000463108.1_5'UTR	NM_000655.4	NP_000646.2	P14151	LYAM1_HUMAN	selectin L	213	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|regulation of immune response (GO:0050776)|response to ATP (GO:0033198)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|protease binding (GO:0002020)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					TTTCCCAAAGGGTGAGTACAG	0.478													G|||	1222	0.24401	0.27	0.2752	5008	,	,		19408	0.254		0.175	False		,,,				2504	0.2474															0								G	SER/PRO	809,2909		85,639,1135	47	47	47		676	5.3	0.9	1	dbSNP_98	47	1076,7044		73,930,3057	yes	missense	SELL	NM_000655.4	74	158,1569,4192	AA,AG,GG		13.2512,21.759,15.9233	probably-damaging	226/386	169673838	1885,9953	1859	4060	5919	SO:0001583	missense	6402			M25280	CCDS53427.1	1q23-q25	2008-07-31	2008-07-31		ENSG00000188404	ENSG00000188404		"CD molecules"	10720	protein-coding gene	gene with protein product		153240	"lymphocyte adhesion molecule 1"	LYAM1, LNHR		2664786, 1375831	Standard	NR_029467		Approved	LSEL, LAM1, LAM-1, hLHRc, Leu-8, Lyam-1, PLNHR, CD62L	uc001ggk.3	P14151	OTTHUMG00000034809	ENST00000236147.4:c.676C>T	1.37:g.169673838G>A	ENSP00000236147:p.Pro226Ser		B2R6Q8|P15023|Q9UJ43	Missense_Mutation	SNP	ENST00000236147.4	37	CCDS53427.1	523	0.23946886446886448	139	0.28252032520325204	91	0.2513812154696133	163	0.28496503496503495	130	0.17150395778364116	G	18.76	3.692950	0.68271	0.21759	0.132512	ENSG00000188404	ENST00000236147	T	0.48201	0.82	5.31	5.31	0.75309	Complement control module (2);Sushi/SCR/CCP (3);	0.117810	0.38326	N	0.001734	T	0.56717	0.2004	M	0.63843	1.955	0.23533	P	0.99747012	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.61033	-0.7144	9	0.56958	D	0.05	-9.9883	12.5565	0.56257	0.0:0.1674:0.8325:0.0	rs2229569;rs4987310;rs52812496;rs58249723;rs4987310	226;213	Q8WW79;P14151	.;LYAM1_HUMAN	S	226	ENSP00000236147:P226S	ENSP00000236147:P226S	P	-	1	0	SELL	167940462	0.994000	0.37717	0.872000	0.34217	0.870000	0.49936	2.131000	0.42074	2.631000	0.89168	0.655000	0.94253	CCT		0.478	SELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084233.1	NM_000655		A	169673838	G	A	169673838	3	1	739	1	0	0	0	0	1	0	0	0	14022	1232	43	2	501	2	SELL	1	169673838	Missense_Mutation	SNP	G	TCGA-KN-8433-01A-11D-2310-10	15358527	169673838	79576783	10	42921											
KIAA1614	57710	broad.mit.edu	37	1	180910361	180910362	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr1:180910361_180910362insC	ENST00000367588.4	+	7	3154_3155	c.3099_3100insC	c.(3100-3102)cccfs	p.P1034fs	KIAA1614_ENST00000461346.1_3'UTR|RP11-46A10.5_ENST00000358073.2_RNA|KIAA1614_ENST00000367587.1_Frame_Shift_Ins_p.P655fs	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	1034	Ser-rich.									NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						AGCAGTTGCAGCCCGCCCCGCC	0.658																																																0																																										SO:0001589	frameshift_variant	57710			AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.3102dupC	1.37:g.180910364_180910364dupC	ENSP00000356560:p.Pro1034fs		Q5VZ45|Q9HCF8	Frame_Shift_Ins	INS	ENST00000367588.4	37	CCDS41442.1																																																																																				0.658	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	XM_046531		C	180910362	-	C	180910361	7	5	739	1	0	1	1	0	0	0	0	0	8250	962	34	0	3125	0	KIAA1614	1	180910361	Frame_Shift_Ins	INS	-	TCGA-KN-8433-01A-11D-2310-10	11236523	180910361	68340260	11	42922											
KCNT2	343450	mdanderson.org	37	1	196227480	196227480	+	Silent	SNP	G	G	T			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr1:196227480G>T	ENST00000294725.9	-	26	3970	c.3055C>A	c.(3055-3057)Cga>Aga	p.R1019R	KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000609185.1_Silent_p.R952R|KCNT2_ENST00000367433.5_Silent_p.R995R|KCNT2_ENST00000367431.4_Silent_p.R953R|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1019					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						CTCAGTCTTCGGGCCCACTGC	0.517																																																0													152	131	138					1																	196227480		2203	4300	6503	SO:0001819	synonymous_variant	343450			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.3055C>A	1.37:g.196227480G>T			Q3SY59|Q5VTN1|Q6ZMT3	Silent	SNP	ENST00000294725.9	37	CCDS1384.1																																																																																				0.517	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		T	196227480	G	T	196227480	2	4	739	1	0	0	0	0	0	0	0	1	8094	1124	39	4		4	KCNT2	1	196227480	Silent	SNP	G	TCGA-KN-8433-01A-11D-2310-10	15317119	196227480	53023141	12	42923											
SLC45A3	85414	mdanderson.org	37	1	205628616	205628616	+	Missense_Mutation	SNP	C	C	T	rs137949511	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr1:205628616C>T	ENST00000367145.3	-	5	1703	c.1408G>A	c.(1408-1410)Gta>Ata	p.V470I	SLC45A3_ENST00000460934.1_5'UTR	NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	470					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			ACCACACGTACGGAGACATCA	0.677			T	"ETV1, ETV5, ELK4, ERG"	prostate						OREG0014161	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	21	0.00419329	0.0	0.0043	5008	,	,		18353	0.0		0.0119	False		,,,				2504	0.0061						Dom	yes		1	1q32	85414	"solute carrier family 45, member 3"		E	0								C	ILE/VAL	8,4396	14.3+/-33.2	0,8,2194	38	38	38		1408	-1.4	0.4	1	dbSNP_134	38	78,8520	44.5+/-102.8	0,78,4221	yes	missense	SLC45A3	NM_033102.2	29	0,86,6415	TT,TC,CC		0.9072,0.1817,0.6614	benign	470/554	205628616	86,12916	2202	4299	6501	SO:0001583	missense	85414			AF109301	CCDS1458.1	1q32.1	2013-05-22	2005-10-04	2005-10-04	ENSG00000158715	ENSG00000158715		"Solute carriers"	8642	protein-coding gene	gene with protein product		605097	"prostate cancer associated protein 6", "prostate cancer associated protein 2", "prostate cancer associated protein 8"	PCANAP6, PCANAP2, PCANAP8		10613842, 11245466	Standard	XM_005245556		Approved	IPCA-6, prostein, IPCA-2, IPCA-8	uc001hda.1	Q96JT2	OTTHUMG00000037223	ENST00000367145.3:c.1408G>A	1.37:g.205628616C>T	ENSP00000356113:p.Val470Ile	2153	A8K2U9	Missense_Mutation	SNP	ENST00000367145.3	37	CCDS1458.1	8	0.003663003663003663	0	0.0	1	0.0027624309392265192	0	0.0	7	0.009234828496042216	C	2.983	-0.209897	0.06140	0.001817	0.009072	ENSG00000158715	ENST00000367145	T	0.44482	0.92	5.48	-1.36	0.09085	.	0.387498	0.26341	N	0.024935	T	0.13072	0.0317	N	0.14661	0.345	0.09310	N	1	B	0.22211	0.066	B	0.13407	0.009	T	0.20538	-1.0272	10	0.14656	T	0.56	-17.1135	7.4464	0.27213	0.0:0.4405:0.1634:0.3962	.	470	Q96JT2	S45A3_HUMAN	I	470	ENSP00000356113:V470I	ENSP00000356113:V470I	V	-	1	0	SLC45A3	203895239	0.023000	0.18921	0.369000	0.25952	0.167000	0.22549	-0.027000	0.12371	-0.144000	0.11314	-0.339000	0.08088	GTA		0.677	SLC45A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090619.1	NM_033102		T	205628616	C	T	205628616	3	4	739	1	0	0	0	0	1	0	0	0	14648	536	19	1	257	1	SLC45A3	1	205628616	Missense_Mutation	SNP	C	TCGA-KN-8433-01A-11D-2310-10	9401136	205628616	43622005	13	42924											
IKBKE	9641	mdanderson.org	37	1	206650108	206650108	+	Missense_Mutation	SNP	A	A	T			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr1:206650108A>T	ENST00000367120.3	+	7	1001	c.628A>T	c.(628-630)Acc>Tcc	p.T210S	IKBKE_ENST00000537984.1_Missense_Mutation_p.T125S	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	210	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)					CATTGGAGTGACCTTGTACCA	0.597																																																0													111	92	99					1																	206650108		2203	4300	6503	SO:0001583	missense	9641			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.628A>T	1.37:g.206650108A>T	ENSP00000356087:p.Thr210Ser		D3DT78|Q3B754|Q3KR43|Q5JTS6	Missense_Mutation	SNP	ENST00000367120.3	37	CCDS30996.1	.	.	.	.	.	.	.	.	.	.	A	29.2	4.986030	0.93044	.	.	ENSG00000143466	ENST00000367120;ENST00000537984	T;T	0.46819	0.86;1.71	5.13	5.13	0.70059	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	0.69351	0.3101	M	0.82923	2.615	0.53688	D	0.999976	P;D	0.63880	0.911;0.993	P;D	0.64595	0.605;0.927	T	0.75218	-0.3395	10	0.72032	D	0.01	3.0E-4	14.9434	0.71012	1.0:0.0:0.0:0.0	.	125;210	Q3B754;Q14164	.;IKKE_HUMAN	S	210;125	ENSP00000356087:T210S;ENSP00000444529:T125S	ENSP00000356087:T210S	T	+	1	0	IKBKE	204716731	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	8.942000	0.92970	1.928000	0.55862	0.454000	0.30748	ACC		0.597	IKBKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088484.1			T	206650108	A	T	206650108	3	4	739	1	0	0	0	0	1	0	0	0	7614	275	10	5	646	5	IKBKE	1	206650108	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	1021492	206650108	42600513	14	42925											
GALNT14	79623	mdanderson.org	37	2	31189098	31189098	+	Missense_Mutation	SNP	G	G	A	rs376894318		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr2:31189098G>A	ENST00000349752.5	-	3	1009	c.370C>T	c.(370-372)Cgc>Tgc	p.R124C	GALNT14_ENST00000420311.2_Missense_Mutation_p.R89C|GALNT14_ENST00000356174.3_Intron|GALNT14_ENST00000324589.5_Missense_Mutation_p.R129C|GALNT14_ENST00000406653.1_Missense_Mutation_p.R104C	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	124	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)					AGCGTGGAGCGGGCCTCGTTG	0.592																																																0									CYS/ARG	0,4406		0,0,2203	249	195	213		370	2.7	1	2		213	1,8599	1.2+/-3.3	0,1,4299	no	missense	GALNT14	NM_024572.2	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	124/553	31189098	1,13005	2203	4300	6503	SO:0001583	missense	79623			AB078144	CCDS1773.2, CCDS58705.1, CCDS58706.1	2p23.2	2014-03-13	2014-03-13		ENSG00000158089	ENSG00000158089	2.4.1.41	"Glycosyltransferase family 2 domain containing"	22946	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 14"	608225	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)"			12507512	Standard	NM_024572		Approved	GalNac-T10, FLJ12691, GalNac-T14	uc002rns.3	Q96FL9	OTTHUMG00000074077	ENST00000349752.5:c.370C>T	2.37:g.31189098G>A	ENSP00000288988:p.Arg124Cys		B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Missense_Mutation	SNP	ENST00000349752.5	37	CCDS1773.2	.	.	.	.	.	.	.	.	.	.	g	18.67	3.673428	0.67928	0.0	1.16E-4	ENSG00000158089	ENST00000349752;ENST00000324589;ENST00000406653;ENST00000420311	T;T;T;T	0.59364	0.27;0.27;0.27;0.27	4.85	2.73	0.32206	Glycosyl transferase, family 2 (1);	0.108216	0.56097	D	0.000027	T	0.76364	0.3977	M	0.89353	3.025	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	0.77213	-0.2670	10	0.38643	T	0.18	.	11.246	0.48998	0.0:0.0:0.5947:0.4053	.	89;89;129;124;104	F5H263;B7Z5C5;Q96FL9-3;Q96FL9;B3KV89	.;.;.;GLT14_HUMAN;.	C	124;129;104;89	ENSP00000288988:R124C;ENSP00000314500:R129C;ENSP00000385435:R104C;ENSP00000415514:R89C	ENSP00000314500:R129C	R	-	1	0	GALNT14	31042602	1.000000	0.71417	0.999000	0.59377	0.867000	0.49689	1.856000	0.39389	0.990000	0.38787	0.480000	0.44947	CGC		0.592	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157264.1	NM_024572		A	31189098	G	A	31189098	3	1	739	1	0	0	0	0	1	0	0	0	6214	1116	39	1	1340	1	GALNT14	2	31189098	Missense_Mutation	SNP	G	TCGA-KN-8433-01A-11D-2310-10		31189098	212010275	15	42926											
GCC2	9648	mdanderson.org	37	2	109088337	109088337	+	Missense_Mutation	SNP	A	A	G	rs139623765		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr2:109088337A>G	ENST00000309863.6	+	6	3266	c.2552A>G	c.(2551-2553)cAg>cGg	p.Q851R		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	851					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						GAAGAAATACAGTCAGAAAAA	0.343																																																0													40	44	43					2																	109088337		2199	4298	6497	SO:0001583	missense	9648			BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"GRIP and coiled-coil domain-containing 2"			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.2552A>G	2.37:g.109088337A>G	ENSP00000307939:p.Gln851Arg		A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	ENST00000309863.6	37	CCDS33268.1	.	.	.	.	.	.	.	.	.	.	A	11.51	1.661259	0.29515	.	.	ENSG00000135968	ENST00000309863;ENST00000409896;ENST00000393318	T	0.31510	1.49	5.45	0.302	0.15786	.	0.974151	0.08386	N	0.953701	T	0.12603	0.0306	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32481	-0.9905	10	0.18710	T	0.47	.	2.6103	0.04889	0.2759:0.0724:0.1179:0.5338	.	851	Q8IWJ2	GCC2_HUMAN	R	851;814;595	ENSP00000307939:Q851R	ENSP00000307939:Q851R	Q	+	2	0	GCC2	108454769	0.341000	0.24801	0.003000	0.11579	0.953000	0.61014	1.325000	0.33724	-0.102000	0.12197	0.528000	0.53228	CAG		0.343	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635		G	109088337	A	G	109088337	3	3	739	1	0	0	0	0	1	0	0	0	6288	188	7	3	2574	3	GCC2	2	109088337	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	77899239	109088337	134111036	16	42927											
POTEE	445582	mdanderson.org	37	2	131981279	131981279	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr2:131981279T>C	ENST00000356920.5	+	2	726	c.632T>C	c.(631-633)aTa>aCa	p.I211T	POTEE_ENST00000358087.5_Missense_Mutation_p.I211T|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	211					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.T208fs*21(1)|p.?(1)									ACAGCTCTGATAAAGGTATGC	0.388																																																2	Unknown(1)|Deletion - Frameshift(1)	prostate(2)											4	5	5					2																	131981279		1352	3035	4387	SO:0001583	missense	445582			AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33895	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 2"	608914	"ANKRD26-like family C, member 1A"	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.632T>C	2.37:g.131981279T>C	ENSP00000439189:p.Ile211Thr		Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	2.085	-0.409789	0.04799	.	.	ENSG00000188219	ENST00000356920;ENST00000358087	T;T	0.64991	-0.13;1.56	1.16	-0.171	0.13331	Ankyrin repeat-containing domain (4);	1.226600	0.05905	N	0.630695	T	0.40815	0.1132	N	0.20445	0.575	0.21064	N	0.999798	B	0.17465	0.022	B	0.14023	0.01	T	0.14868	-1.0457	10	0.12766	T	0.61	.	4.0041	0.09593	0.0:0.2359:0.0:0.7641	.	211	Q6S8J3	POTEE_HUMAN	T	211	ENSP00000439189:I211T;ENSP00000443049:I211T	ENSP00000439189:I211T	I	+	2	0	AC131180.1	131697749	1.000000	0.71417	0.006000	0.13384	0.023000	0.10783	1.399000	0.34566	-0.227000	0.09884	-1.288000	0.01363	ATA		0.388	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		C	131981279	T	C	131981279	3	2	739	1	0	0	0	0	1	0	0	0	12266	1406	49	3	638	3	POTEE	2	131981279	Missense_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10	22892942	131981279	111218094	17	42928											
CSRNP3	80034	broad.mit.edu;mdanderson.org	37	2	166532972	166532972	+	Missense_Mutation	SNP	C	C	T	rs150240455		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr2:166532972C>T	ENST00000342316.4	+	4	831	c.559C>T	c.(559-561)Cgt>Tgt	p.R187C	CSRNP3_ENST00000314499.7_Missense_Mutation_p.R187C|CSRNP3_ENST00000409420.1_Missense_Mutation_p.R219C	NM_024969.3	NP_079245.2	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	187					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	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)			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						AGCTCTGCTGCGTGCCTCTGG	0.493																																																0													155	158	157					2																	166532972		2203	4300	6503	SO:0001583	missense	80034			AB063300	CCDS2225.1	2q24.3	2012-04-17	2009-01-07	2009-01-07	ENSG00000178662	ENSG00000178662		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	30729	protein-coding gene	gene with protein product	"TGF beta induced apotosis protein 2", "protein phosphatase 1, regulatory subunit 73"		"family with sequence similarity 130, member A2"	FAM130A2		17726538	Standard	NM_024969		Approved	FLJ32093, TAIP-2, PPP1R73	uc002udg.3	Q8WYN3	OTTHUMG00000132145	ENST00000342316.4:c.559C>T	2.37:g.166532972C>T	ENSP00000344042:p.Arg187Cys		B3KPR4|Q53SG0|Q6ZTX3|Q9HAF9	Missense_Mutation	SNP	ENST00000342316.4	37	CCDS2225.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.618124	0.87359	.	.	ENSG00000178662	ENST00000421875;ENST00000431452;ENST00000314499;ENST00000342316;ENST00000409420	T;T;T;T	0.18657	2.2;2.2;2.2;2.2	5.77	3.92	0.45320	.	0.137201	0.50627	D	0.000118	T	0.48696	0.1514	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.55341	-0.8156	10	0.87932	D	0	-8.8202	14.7122	0.69241	0.2369:0.7631:0.0:0.0	.	187	Q8WYN3	CSRN3_HUMAN	C	187;194;187;187;219	ENSP00000412081:R187C;ENSP00000318258:R187C;ENSP00000344042:R187C;ENSP00000387195:R219C	ENSP00000318258:R187C	R	+	1	0	CSRNP3	166241218	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.209000	0.51122	0.847000	0.35167	0.655000	0.94253	CGT		0.493	CSRNP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255191.2	NM_024969		T	166532972	C	T	166532972	3	4	739	1	0	0	0	0	1	0	0	0	3967	768	27	1	569	1	CSRNP3	2	166532972	Missense_Mutation	SNP	C	TCGA-KN-8433-01A-11D-2310-10	34551693	166532972	76666401	18	42929											
STAT4	6775	mdanderson.org	37	2	191937868	191937868	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr2:191937868T>C	ENST00000392320.2	-	5	735	c.421A>G	c.(421-423)Agg>Ggg	p.R141G	STAT4_ENST00000358470.4_Missense_Mutation_p.R141G	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	141					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			TCCACATTCCTCTGTCTTTCT	0.383																																																0													144	153	150					2																	191937868		2203	4300	6503	SO:0001583	missense	6775				CCDS2310.1	2q32.2-q32.3	2013-02-14			ENSG00000138378	ENSG00000138378		"SH2 domain containing"	11365	protein-coding gene	gene with protein product		600558				8007943, 8700208	Standard	NM_003151		Approved		uc002usn.2	Q14765	OTTHUMG00000132700	ENST00000392320.2:c.421A>G	2.37:g.191937868T>C	ENSP00000376134:p.Arg141Gly		Q96NZ6	Missense_Mutation	SNP	ENST00000392320.2	37	CCDS2310.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.967615	0.74131	.	.	ENSG00000138378	ENST00000358470;ENST00000392320	T;T	0.59772	0.24;0.24	5.92	3.43	0.39272	STAT transcription factor, all-alpha (2);STAT transcription factor, coiled coil (1);	0.115942	0.56097	D	0.000033	T	0.58793	0.2147	L	0.53249	1.67	0.80722	D	1	P;P	0.49185	0.92;0.92	P;P	0.47603	0.551;0.551	T	0.60697	-0.7212	10	0.72032	D	0.01	-5.4751	12.9112	0.58181	0.0:0.0:0.2551:0.7449	.	141;141	B4DV04;Q14765	.;STAT4_HUMAN	G	141	ENSP00000351255:R141G;ENSP00000376134:R141G	ENSP00000351255:R141G	R	-	1	2	STAT4	191646113	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	3.428000	0.52792	0.423000	0.26033	0.455000	0.32223	AGG		0.383	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335586.1	NM_003151		C	191937868	T	C	191937868	3	2	739	1	0	0	0	0	1	0	0	0	15272	1550	54	3	1905	3	STAT4	2	191937868	Missense_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10	25404896	191937868	51261505	19	42930											
STRADB	55437	mdanderson.org	37	2	202343187	202343187	+	Silent	SNP	G	G	A	rs200083822		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr2:202343187G>A	ENST00000194530.3	+	10	1298	c.933G>A	c.(931-933)ggG>ggA	p.G311G	STRADB_ENST00000392249.2_Silent_p.G311G	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	311	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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						TAGACTCTGGGATTGGAGAAA	0.423																																																0													76	72	73					2																	202343187		2203	4300	6503	SO:0001819	synonymous_variant	55437			AB038950	CCDS2348.1, CCDS56161.1	2q33.1	2010-09-30	2008-09-15	2008-09-15	ENSG00000082146	ENSG00000082146			13205	protein-coding gene	gene with protein product		607333	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 2"	ALS2CR2		11161814, 14511394	Standard	NM_018571		Approved	CALS-21, PAPK, ILPIPA, ILPIP	uc002uyd.4	Q9C0K7	OTTHUMG00000132831	ENST00000194530.3:c.933G>A	2.37:g.202343187G>A			Q5BKY7|Q9P1L0	Silent	SNP	ENST00000194530.3	37	CCDS2348.1																																																																																				0.423	STRADB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256297.1	NM_018571		A	202343187	G	A	202343187	2	1	739	1	0	0	0	0	0	0	0	1	15330	1161	41	2		2	STRADB	2	202343187	Silent	SNP	G	TCGA-KN-8433-01A-11D-2310-10	10405319	202343187	40856186	20	42931											
CYP20A1	57404	mdanderson.org	37	2	204154552	204154552	+	Missense_Mutation	SNP	C	C	T	rs1048013	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr2:204154552C>T	ENST00000356079.4	+	10	1159	c.1036C>T	c.(1036-1038)Ctt>Ttt	p.L346F	CYP20A1_ENST00000429815.2_Missense_Mutation_p.L354F|CYP20A1_ENST00000461371.1_3'UTR	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A, polypeptide 1	346			L -> F (in dbSNP:rs1048013). {ECO:0000269|PubMed:15489334, ECO:0000269|Ref.1}.			integral component of membrane (GO:0016021)|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)			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						TTCTGCCCAGCTTCAAGATAT	0.318													C|||	2003	0.39996	0.149	0.4438	5008	,	,		13211	0.3194		0.5606	False		,,,				2504	0.6258															0								C	PHE/LEU	979,3427	364.1+/-316.8	108,763,1332	61	58	59		1036	5.6	1	2	dbSNP_86	59	4837,3763	614.1+/-396.2	1365,2107,828	yes	missense	CYP20A1	NM_177538.2	22	1473,2870,2160	TT,TC,CC		43.7558,22.2197,44.7178	benign	346/463	204154552	5816,7190	2203	4300	6503	SO:0001583	missense	57404			AK021770	CCDS2357.1	2q33	2008-02-05			ENSG00000119004	ENSG00000119004		"Cytochrome P450s"	20576	protein-coding gene	gene with protein product							Standard	NM_177538		Approved	CYP-M	uc002uzv.4	Q6UW02	OTTHUMG00000132854	ENST00000356079.4:c.1036C>T	2.37:g.204154552C>T	ENSP00000348380:p.Leu346Phe		Q4ZG61|Q8N4Q8|Q8WWA9|Q9HC04	Missense_Mutation	SNP	ENST00000356079.4	37	CCDS2357.1	835	0.3823260073260073	84	0.17073170731707318	183	0.505524861878453	158	0.2762237762237762	410	0.5408970976253298	C	14.49	2.549672	0.45383	0.222197	0.562442	ENSG00000119004	ENST00000356079;ENST00000421618;ENST00000429815	T;T	0.70164	-0.46;-0.46	5.6	5.6	0.85130	.	0.060804	0.64402	D	0.000004	T	0.00012	0.0000	L	0.54323	1.7	0.20873	P	0.999831543	B;B	0.12013	0.003;0.005	B;B	0.18871	0.015;0.023	T	0.44997	-0.9291	9	0.12766	T	0.61	-8.4726	19.6715	0.95914	0.0:1.0:0.0:0.0	rs1048013;rs3188004;rs17415875;rs17858536;rs17859053;rs52814168;rs58200424;rs1048013	354;346	E9PHG5;Q6UW02	.;CP20A_HUMAN	F	346;319;354	ENSP00000348380:L346F;ENSP00000407860:L354F	ENSP00000348380:L346F	L	+	1	0	CYP20A1	203862797	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.719000	0.61937	2.667000	0.90743	0.580000	0.79431	CTT		0.318	CYP20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256328.3	NM_020674		T	204154552	C	T	204154552	3	4	739	1	0	0	0	0	1	0	0	0	4154	797	28	2	1074	2	CYP20A1	2	204154552	Missense_Mutation	SNP	C	TCGA-KN-8433-01A-11D-2310-10	1811365	204154552	39044821	21	42932											
NDUFS1	4719	mdanderson.org	37	2	206994915	206994915	+	Silent	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr2:206994915T>C	ENST00000233190.6	-	15	1871	c.1605A>G	c.(1603-1605)gaA>gaG	p.E535E	NDUFS1_ENST00000432169.1_Silent_p.E424E|NDUFS1_ENST00000440274.1_Silent_p.E499E|NDUFS1_ENST00000423725.1_Silent_p.E478E|NDUFS1_ENST00000449699.1_Silent_p.E535E|NDUFS1_ENST00000455934.2_Silent_p.E549E|NDUFS1_ENST00000457011.1_Silent_p.E419E	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	535					apoptotic mitochondrial changes (GO:0008637)|ATP metabolic process (GO:0046034)|cellular metabolic process (GO:0044237)|cellular respiration (GO:0045333)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747)	2 iron, 2 sulfur cluster binding (GO:0051537)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCCGAATTGCTTCCACCCCAG	0.433																																																0													82	77	78					2																	206994915		2203	4300	6503	SO:0001819	synonymous_variant	4719				CCDS2366.1, CCDS56162.1, CCDS56163.1, CCDS56164.1, CCDS56165.1	2q33-q34	2011-07-04	2002-08-29		ENSG00000023228	ENSG00000023228	1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7707	protein-coding gene	gene with protein product	"complex I 75kDa subunit", "NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial"	157655	"NADH dehydrogenase (ubiquinone) Fe-S protein 1 (75kD) (NADH-coenzyme Q reductase)"			1935949	Standard	NM_005006		Approved	CI-75k	uc010ziq.2	P28331	OTTHUMG00000132892	ENST00000233190.6:c.1605A>G	2.37:g.206994915T>C			B4DIN9|B4DJA0|B4DPG1|B4DUC1|E7ENF3|Q53TR8|Q8N1C4|Q8TCC9	Silent	SNP	ENST00000233190.6	37	CCDS2366.1																																																																																				0.433	NDUFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256391.4	NM_005006		C	206994915	T	C	206994915	2	2	739	1	0	0	0	0	0	0	0	1	10293	1606	56	3		3	NDUFS1	2	206994915	Silent	SNP	T	TCGA-KN-8433-01A-11D-2310-10	2840363	206994915	36204458	22	42933											
STK16	8576	bcgsc.ca	37	2	220111919	220111919	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr2:220111919G>T	ENST00000409638.3	+	4	563	c.391G>T	c.(391-393)Ggg>Tgg	p.G131W	GLB1L_ENST00000295759.7_5'Flank|STK16_ENST00000409260.1_Missense_Mutation_p.G176W|GLB1L_ENST00000392089.2_5'Flank|STK16_ENST00000396738.2_Missense_Mutation_p.G131W|STK16_ENST00000409743.1_Missense_Mutation_p.G131W|STK16_ENST00000486813.1_3'UTR|GLB1L_ENST00000356283.3_5'Flank|STK16_ENST00000409516.3_Intron	NM_001008910.2	NP_001008910.1	O75716	STK16_HUMAN	serine/threonine kinase 16	131	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to transforming growth factor beta stimulus (GO:0071560)|protein autophosphorylation (GO:0046777)	Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			skin(1)	1		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTGCTGCTGGGGATCTGCAG	0.552																																					Pancreas(34;887 922 17165 36961 39622)											0													74	75	75					2																	220111919		1941	4146	6087	SO:0001583	missense	8576			AF060798	CCDS42822.1	2q35	2010-04-16			ENSG00000115661	ENSG00000115661			11394	protein-coding gene	gene with protein product		604719				9712705	Standard	NM_001008910		Approved	PKL12, MPSK	uc002vko.2	O75716	OTTHUMG00000154520	ENST00000409638.3:c.391G>T	2.37:g.220111919G>T	ENSP00000386928:p.Gly131Trp		A8K9H9|Q5U0F8|Q96KI2|Q9BUH4|Q9UEN3|Q9UP78	Missense_Mutation	SNP	ENST00000409638.3	37	CCDS42822.1	.	.	.	.	.	.	.	.	.	.	G	19.25	3.791769	0.70452	.	.	ENSG00000115661	ENST00000409638;ENST00000396738;ENST00000409260;ENST00000409743	T;T;T;T	0.75050	1.97;1.97;-0.9;1.97	5.69	4.82	0.62117	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	0.88373	0.6419	M	0.90595	3.13	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;0.996;0.998;1.0	D	0.90803	0.4695	10	0.87932	D	0	-5.5489	14.9395	0.70983	0.0688:0.0:0.9312:0.0	.	131;131;176;131	B4DXY6;B8ZZI5;B8ZZN3;O75716	.;.;.;STK16_HUMAN	W	131;131;176;131	ENSP00000386928:G131W;ENSP00000379964:G131W;ENSP00000387156:G176W;ENSP00000386553:G131W	ENSP00000379964:G131W	G	+	1	0	STK16	219820163	1.000000	0.71417	0.998000	0.56505	0.955000	0.61496	7.688000	0.84153	1.401000	0.46761	0.655000	0.94253	GGG		0.552	STK16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335679.1			T	220111919	G	T	220111919	3	4	739	1	0	0	0	0	1	0	0	0	15294	1232	43	4	401	4	STK16	2	220111919	Missense_Mutation	SNP	G	TCGA-KN-8433-01A-11D-2310-10	13117004	220111919	23087454	23	42934											
UGT1A9	54600	mdanderson.org	37	2	234581157	234581157	+	Missense_Mutation	SNP	A	A	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr2:234581157A>C	ENST00000354728.4	+	1	659	c.577A>C	c.(577-579)Att>Ctt	p.I193L	UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000609637.1_Missense_Mutation_p.I193L|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron			O60656	UD19_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A9	193					cellular glucuronidation (GO:0052695)|cellular lipid metabolic process (GO:0044255)|drug metabolic process (GO:0017144)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|xenobiotic glucuronidation (GO:0052697)|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)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)			breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	Acetaminophen(DB00316)|Buprenorphine(DB00921)|Canagliflozin(DB08907)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Entacapone(DB00494)|Etodolac(DB00749)|Ezogabine(DB04953)|Flurbiprofen(DB00712)|Haloperidol(DB00502)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ketobemidone(DB06738)|Lumiracoxib(DB01283)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Nateglinide(DB00731)|Niflumic Acid(DB04552)|Oxazepam(DB00842)|Propofol(DB00818)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sulfamethoxazole(DB01015)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zileuton(DB00744)	TGTCCCCAGAATTCTCTTAGG	0.468																																																0													156	165	162					2																	234581157		2203	4297	6500	SO:0001583	missense	54600			AF056188	CCDS2505.1	2q37	2010-03-05	2005-07-20		ENSG00000241119	ENSG00000241119		"UDP glucuronosyltransferases"	12541	other	complex locus constituent		606434	"UDP glycosyltransferase 1 family, polypeptide A9"			9295054, 1910331	Standard	NM_021027		Approved	HLUGP4, LUGP4, UGT1AI		O60656	OTTHUMG00000059124	ENST00000354728.4:c.577A>C	2.37:g.234581157A>C	ENSP00000346768:p.Ile193Leu		B8K285|P36509|Q9HAX0	Missense_Mutation	SNP	ENST00000354728.4	37	CCDS2505.1	.	.	.	.	.	.	.	.	.	.	A	0.010	-1.771680	0.00645	.	.	ENSG00000241119	ENST00000354728	T	0.59224	0.28	3.41	-6.83	0.01693	.	.	.	.	.	T	0.22936	0.0554	N	0.02960	-0.455	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.13629	-1.0502	9	0.13470	T	0.59	.	5.5972	0.17333	0.4182:0.4051:0.0932:0.0834	.	193;193	Q5DSZ5;O60656	.;UD19_HUMAN	L	193	ENSP00000346768:I193L	ENSP00000346768:I193L	I	+	1	0	UGT1A9	234245896	0.000000	0.05858	0.000000	0.03702	0.073000	0.16967	-10.910000	0.00005	-3.181000	0.00222	-0.690000	0.03725	ATT		0.468	UGT1A9-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130995.1	NM_021027		C	234581157	A	C	234581157	3	2	739	1	0	0	0	0	1	0	0	0	16957	101	4	5	579	5	UGT1A9	2	234581157	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	14469238	234581157	8618216	24	42935											
SCN11A	11280	mdanderson.org	37	3	38912235	38912235	+	Splice_Site	SNP	C	C	T			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr3:38912235C>T	ENST00000302328.3	-	22	3958	c.3760G>A	c.(3760-3762)Gca>Aca	p.A1254T	SCN11A_ENST00000456224.3_Splice_Site_p.A1216T|SCN11A_ENST00000444237.2_Splice_Site_p.A1254T|SCN11A_ENST00000450244.1_Splice_Site_p.A1254T	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1254					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)	p.A1254S(1)		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)	TTAAATGTTGCCTGCAACAAA	0.418																																																1	Substitution - Missense(1)	lung(1)											92	83	86					3																	38912235		2203	4300	6503	SO:0001630	splice_region_variant	11280			AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10583	protein-coding gene	gene with protein product		604385	"sodium channel, voltage-gated, type XI, alpha polypeptide", "sodium channel, voltage-gated, type XII, alpha"	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.3760-1G>A	3.37:g.38912235C>T			A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	C	30	5.056134	0.93793	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.98602	-5.02;-5.02;-5.02;-5.02	4.55	4.55	0.56014	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98927	0.9636	M	0.83312	2.635	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99835	1.1057	10	0.87932	D	0	.	17.2484	0.87034	0.0:1.0:0.0:0.0	.	1254	Q9UI33	SCNBA_HUMAN	T	1254;1254;1216;1254	ENSP00000307599:A1254T;ENSP00000400945:A1254T;ENSP00000416757:A1216T;ENSP00000408028:A1254T	ENSP00000307599:A1254T	A	-	1	0	SCN11A	38887239	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	5.915000	0.69973	2.219000	0.72066	0.491000	0.48974	GCA		0.418	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139	Missense_Mutation	T	38912235	C	T	38912235	5	4	739	1	0	0	0	0	0	0	1	0	13919	753	26	2	1635	2	SCN11A	3	38912235	Splice_Site	SNP	C	TCGA-KN-8433-01A-11D-2310-10		38912235	159110195	25	42936											
ZNF445	353274	mdanderson.org	37	3	44492834	44492834	+	Silent	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr3:44492834T>C	ENST00000396077.2	-	4	917	c.570A>G	c.(568-570)gaA>gaG	p.E190E	ZNF445_ENST00000425708.2_Silent_p.E190E	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	190					transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		AGTCACGTGCTTCTATTTCAT	0.552																																																0													131	134	133					3																	44492834		2203	4300	6503	SO:0001819	synonymous_variant	353274			AY262260	CCDS2713.1	3p21.32	2013-01-09	2003-10-07		ENSG00000185219	ENSG00000185219		"Zinc fingers, C2H2-type", "-", "-", "-"	21018	protein-coding gene	gene with protein product			"zinc finger protein 168"	ZNF168		7814019	Standard	NM_181489		Approved	ZKSCAN15, ZSCAN47	uc003cnf.2	P59923	OTTHUMG00000133042	ENST00000396077.2:c.570A>G	3.37:g.44492834T>C			Q3MJD1	Silent	SNP	ENST00000396077.2	37	CCDS2713.1																																																																																				0.552	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256647.2	NM_181489		C	44492834	T	C	44492834	2	2	739	1	0	0	0	0	0	0	0	1	17923	1606	56	3		3	ZNF445	3	44492834	Silent	SNP	T	TCGA-KN-8433-01A-11D-2310-10	5580599	44492834	153529596	26	42937											
NBEAL2	23218	mdanderson.org	37	3	47042507	47042507	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr3:47042507A>G	ENST00000450053.3	+	28	4501	c.4322A>G	c.(4321-4323)gAg>gGg	p.E1441G	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Missense_Mutation_p.E1257G	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1441					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)		TCTGAGGAAGAGTTGTGCAAT	0.627																																																0													76	89	85					3																	47042507		2118	4226	6344	SO:0001583	missense	23218			AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"WD repeat domain containing"	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.4322A>G	3.37:g.47042507A>G	ENSP00000415034:p.Glu1441Gly		O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	ENST00000450053.3	37	CCDS46817.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.7|25.7	4.660380|4.660380	0.88154|0.88154	.|.	.|.	ENSG00000160796|ENSG00000160796	ENST00000292309;ENST00000450053|ENST00000416683	T;T|.	0.60672|.	0.22;0.17|.	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72415|0.72415	0.3457|0.3457	M|M	0.69823|0.69823	2.125|2.125	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.70935|.	0.971|.	T|T	0.72593|0.72593	-0.4246|-0.4246	10|5	0.87932|.	D|.	0|.	.|.	13.502|13.502	0.61462|0.61462	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1441|.	Q6ZNJ1|.	NBEL2_HUMAN|.	G|G	1257;1441|729	ENSP00000292309:E1257G;ENSP00000415034:E1441G|.	ENSP00000292309:E1257G|.	E|S	+|+	2|1	0|0	NBEAL2|NBEAL2	47017511|47017511	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.980000|0.980000	0.70556|0.70556	9.064000|9.064000	0.93933|0.93933	2.288000|2.288000	0.76882|0.76882	0.533000|0.533000	0.62120|0.62120	GAG|AGT		0.627	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		G	47042507	A	G	47042507	3	3	739	1	0	0	0	0	1	0	0	0	10191	304	11	3	4432	3	NBEAL2	3	47042507	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	2549673	47042507	150979923	27	42938											
COL7A1	1294	hgsc.bcm.edu;ucsc.edu	37	3	48602898	48602898	+	Silent	SNP	G	G	A	rs116591500	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr3:48602898G>A	ENST00000328333.8	-	115	8579	c.8472C>T	c.(8470-8472)gcC>gcT	p.A2824A	UCN2_ENST00000273610.3_5'Flank|COL7A1_ENST00000454817.1_Silent_p.A2792A|COL7A1_ENST00000470076.1_5'Flank	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2824	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)		GCTGGGAGCCGGCAGTGTCTG	0.652													G|||	13	0.00259585	0.0098	0.0	5008	,	,		17924	0.0		0.0	False		,,,				2504	0.0															0								G		35,4371	38.4+/-70.7	0,35,2168	32	37	35		8472	-6.8	0	3	dbSNP_132	35	0,8600		0,0,4300	no	coding-synonymous	COL7A1	NM_000094.3		0,35,6468	AA,AG,GG		0.0,0.7944,0.2691		2824/2945	48602898	35,12971	2203	4300	6503	SO:0001819	synonymous_variant	1294			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"Collagens", "Fibronectin type III domain containing"	2214	protein-coding gene	gene with protein product	"collagen VII, alpha-1 polypeptide", "LC collagen"	120120	"epidermolysis bullosa, dystrophic, dominant and recessive"	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.8472C>T	3.37:g.48602898G>A			Q14054|Q16507	Silent	SNP	ENST00000328333.8	37	CCDS2773.1																																																																																				0.652	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		A	48602898	G	A	48602898	2	1	739	1	0	0	0	0	0	0	0	1	3706	1103	39	1		1	COL7A1	3	48602898	Silent	SNP	G	TCGA-KN-8433-01A-11D-2310-10	1560391	48602898	149419532	28	42939											
CHDH	55349	mdanderson.org	37	3	53856589	53856589	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr3:53856589C>T	ENST00000315251.6	-	4	1221	c.784G>A	c.(784-786)Gtg>Atg	p.V262M		NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN	choline dehydrogenase	262					glycine betaine biosynthetic process from choline (GO:0019285)	mitochondrial inner membrane (GO:0005743)	choline dehydrogenase activity (GO:0008812)|flavin adenine dinucleotide binding (GO:0050660)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	ACCCTGCTCACAAGCGTCTCG	0.632																																																0													113	91	99					3																	53856589		2203	4300	6503	SO:0001583	missense	55349			AJ272267	CCDS2873.1	3p21	2004-11-24			ENSG00000016391	ENSG00000016391	1.1.99.1		24288	protein-coding gene	gene with protein product							Standard	NM_018397		Approved		uc003dgz.3	Q8NE62	OTTHUMG00000158281	ENST00000315251.6:c.784G>A	3.37:g.53856589C>T	ENSP00000319851:p.Val262Met		Q9NY17	Missense_Mutation	SNP	ENST00000315251.6	37	CCDS2873.1	.	.	.	.	.	.	.	.	.	.	C	18.46	3.629633	0.67015	.	.	ENSG00000016391	ENST00000315251	T	0.78126	-1.15	5.65	5.65	0.86999	Glucose-methanol-choline oxidoreductase, N-terminal (1);	0.271361	0.37348	N	0.002126	D	0.90967	0.7160	M	0.93978	3.48	0.43852	D	0.996441	D	0.53619	0.961	P	0.62813	0.907	D	0.92356	0.5893	10	0.87932	D	0	-27.6343	19.5069	0.95121	0.0:1.0:0.0:0.0	.	262	Q8NE62	CHDH_HUMAN	M	262	ENSP00000319851:V262M	ENSP00000319851:V262M	V	-	1	0	CHDH	53831629	0.979000	0.34478	0.126000	0.21872	0.538000	0.34931	2.244000	0.43124	2.941000	0.99782	0.655000	0.94253	GTG		0.632	CHDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350567.2	NM_018397		T	53856589	C	T	53856589	3	4	739	1	0	0	0	0	1	0	0	0	3335	478	17	2	1024	2	CHDH	3	53856589	Missense_Mutation	SNP	C	TCGA-KN-8433-01A-11D-2310-10	5253691	53856589	144165841	29	42940											
EPHA3	2042	mdanderson.org	37	3	89498483	89498483	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr3:89498483T>C	ENST00000336596.2	+	14	2680	c.2455T>C	c.(2455-2457)Tct>Cct	p.S819P	EPHA3_ENST00000494014.1_Missense_Mutation_p.S819P	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	819	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)		GGAGGTGATGTCTTATGGAGA	0.458										TSP Lung(6;0.00050)																																						0													267	243	251					3																	89498483		2203	4300	6503	SO:0001583	missense	2042			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.2455T>C	3.37:g.89498483T>C	ENSP00000337451:p.Ser819Pro		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.664232	0.88251	.	.	ENSG00000044524	ENST00000336596;ENST00000494014	T;T	0.64085	-0.08;-0.08	5.34	5.34	0.76211	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	T	0.81564	0.4849	M	0.87328	2.875	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.84556	0.0647	9	.	.	.	.	15.3454	0.74334	0.0:0.0:0.0:1.0	.	819	P29320	EPHA3_HUMAN	P	819	ENSP00000337451:S819P;ENSP00000419190:S819P	.	S	+	1	0	EPHA3	89581173	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.993000	0.88291	2.030000	0.59900	0.533000	0.62120	TCT		0.458	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		C	89498483	T	C	89498483	3	2	739	1	0	0	0	0	1	0	0	0	5170	1667	58	3	2535	3	EPHA3	3	89498483	Missense_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10	35641894	89498483	108523947	30	42941											
OR5H6	79295	mdanderson.org	37	3	97983656	97983656	+	Silent	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr3:97983656A>G	ENST00000383696.2	+	1	569	c.528A>G	c.(526-528)gaA>gaG	p.E176E	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	176						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TAATCCATGAAGCTTTTTCAT	0.338																																																0													84	85	85					3																	97983656		2203	4297	6500	SO:0001819	synonymous_variant	79295			BK004374	CCDS33800.1	3q12.1	2013-10-10	2013-10-10		ENSG00000230301	ENSG00000230301		"GPCR / Class A : Olfactory receptors"	14767	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily H, member 6"				Standard	NM_001005479		Approved		uc003dsi.1	Q8NGV6	OTTHUMG00000160078	ENST00000383696.2:c.528A>G	3.37:g.97983656A>G			Q6IF88	Silent	SNP	ENST00000383696.2	37	CCDS33800.1																																																																																				0.338	OR5H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359111.2			G	97983656	A	G	97983656	2	3	739	1	0	0	0	0	0	0	0	1	11165	69	3	3		3	OR5H6	3	97983656	Silent	SNP	A	TCGA-KN-8433-01A-11D-2310-10	8485173	97983656	100038774	31	42942											
NIT2	56954	mdanderson.org	37	3	100073671	100073671	+	Splice_Site	SNP	G	G	A			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr3:100073671G>A	ENST00000394140.4	+	9	830	c.739G>A	c.(739-741)Gac>Aac	p.D247N		NM_020202.4	NP_064587.1	Q9NQR4	NIT2_HUMAN	nitrilase family, member 2	247	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				asparagine metabolic process (GO:0006528)|glutamine metabolic process (GO:0006541)|oxaloacetate metabolic process (GO:0006107)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	omega-amidase activity (GO:0050152)			breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						TTCAGACATAGGTAAGATTTT	0.483																																																0													160	151	154					3																	100073671		2203	4300	6503	SO:0001630	splice_region_variant	56954			AF284574	CCDS33806.1	3q12.3	2004-07-12			ENSG00000114021	ENSG00000114021			29878	protein-coding gene	gene with protein product						10959838	Standard	NM_020202		Approved		uc003dtv.3	Q9NQR4	OTTHUMG00000159066	ENST00000394140.4:c.739+1G>A	3.37:g.100073671G>A			B2R9A3|D3DN47|Q8WUF0	Missense_Mutation	SNP	ENST00000394140.4	37	CCDS33806.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.102526	0.76983	.	.	ENSG00000114021	ENST00000394140	T	0.76316	-1.01	5.63	5.63	0.86233	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (3);	0.000000	0.85682	D	0.000000	T	0.74612	0.3739	L	0.58810	1.83	0.80722	D	1	P	0.39903	0.694	B	0.34452	0.183	T	0.75196	-0.3403	10	0.38643	T	0.18	-17.7733	19.2824	0.94057	0.0:0.0:1.0:0.0	.	247	Q9NQR4	NIT2_HUMAN	N	247	ENSP00000377696:D247N	ENSP00000377696:D247N	D	+	1	0	NIT2	101556361	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	8.499000	0.90494	2.664000	0.90586	0.591000	0.81541	GAC		0.483	NIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353142.2	NM_020202	Missense_Mutation	A	100073671	G	A	100073671	5	1	739	1	0	0	0	0	0	0	1	0	10436	1014	35	2	773	2	NIT2	3	100073671	Splice_Site	SNP	G	TCGA-KN-8433-01A-11D-2310-10	2090015	100073671	97948759	32	42943											
HCLS1	3059	hgsc.bcm.edu	37	3	121351315	121351315	+	Silent	SNP	G	G	A	rs150627065|rs372720825|rs80289672	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr3:121351315G>A	ENST00000314583.3	-	12	1195	c.1104C>T	c.(1102-1104)ccC>ccT	p.P368P	HCLS1_ENST00000428394.2_Silent_p.P331P|HCLS1_ENST00000473883.1_5'UTR	NM_005335.4	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	368					actin filament polymerization (GO:0030041)|cellular response to cytokine stimulus (GO:0071345)|erythrocyte differentiation (GO:0030218)|intracellular signal transduction (GO:0035556)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell proliferation (GO:0008284)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of macrophage differentiation (GO:0045651)|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 factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|regulation of actin filament polymerization (GO:0030833)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	protein kinase binding (GO:0019901)|RNA polymerase II transcription factor binding (GO:0001085)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		gctcaggctcgggctcaggct	0.607																																																0			GRCh37	CI045897	HCLS1	I	rs80289672						145	140	142					3																	121351315		2203	4300	6503	SO:0001819	synonymous_variant	3059				CCDS3003.1	3q13	2007-08-03			ENSG00000180353	ENSG00000180353			4844	protein-coding gene	gene with protein product	"cortactin-like"	601306				8978766, 15710041	Standard	NM_001292041		Approved	HS1, CTTNL	uc003eeh.4	P14317	OTTHUMG00000159409	ENST00000314583.3:c.1104C>T	3.37:g.121351315G>A			B4DQ69|Q53Y93|Q6IBK9|Q9UDK0	Silent	SNP	ENST00000314583.3	37	CCDS3003.1																																																																																				0.607	HCLS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355144.1	NM_005335		A	121351315	G	A	121351315	2	1	739	1	0	0	0	0	0	0	0	1	6997	1103	39	1		1	HCLS1	3	121351315	Silent	SNP	G	TCGA-KN-8433-01A-11D-2310-10	21277644	121351315	76671115	33	42944											
IGSF10	285313	mdanderson.org	37	3	151165120	151165120	+	Silent	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr3:151165120T>C	ENST00000282466.3	-	4	2648	c.2649A>G	c.(2647-2649)caA>caG	p.Q883Q		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	883					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)			TGGTTGTGCCTTGTATTTGGC	0.423																																																0													357	356	356					3																	151165120		2203	4300	6503	SO:0001819	synonymous_variant	285313			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"Immunoglobulin superfamily / I-set domain containing"	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.2649A>G	3.37:g.151165120T>C			Q86YJ9|Q8N772|Q8NA84	Silent	SNP	ENST00000282466.3	37	CCDS3160.1																																																																																				0.423	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		C	151165120	T	C	151165120	2	2	739	1	0	0	0	0	0	0	0	1	7599	1606	56	3		3	IGSF10	3	151165120	Silent	SNP	T	TCGA-KN-8433-01A-11D-2310-10	29813805	151165120	46857310	34	42945											
NMD3	51068	mdanderson.org	37	3	160945096	160945096	+	Silent	SNP	T	T	C	rs138466882		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr3:160945096T>C	ENST00000460469.1	+	3	696	c.241T>C	c.(241-243)Ttg>Ctg	p.L81L	NMD3_ENST00000351193.2_Silent_p.L81L|NMD3_ENST00000472947.1_Silent_p.L81L|NMD3_ENST00000478160.1_3'UTR			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	81					protein transport (GO:0015031)|ribosomal large subunit export from nucleus (GO:0000055)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|ribosomal large subunit binding (GO:0043023)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			ACTTCTTGCTTTGTGCTTGAA	0.353																																																0								T		1,4405	2.1+/-5.4	0,1,2202	121	117	118		241	5.6	1	3	dbSNP_134	118	0,8600		0,0,4300	no	coding-synonymous	NMD3	NM_015938.3		0,1,6502	CC,CT,TT		0.0,0.0227,0.0077		81/504	160945096	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51068			BC013317	CCDS3194.1	3q26.1	2013-08-06	2013-08-06		ENSG00000169251	ENSG00000169251			24250	protein-coding gene	gene with protein product		611021	"NMD3 homolog (S. cerevisiae)"			10810093, 23782956, 12773398	Standard	NM_015938		Approved	CGI-07	uc003feb.1	Q96D46	OTTHUMG00000159063	ENST00000460469.1:c.241T>C	3.37:g.160945096T>C			D3DNM7|Q9Y2Z6	Silent	SNP	ENST00000460469.1	37	CCDS3194.1																																																																																				0.353	NMD3-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353114.1	NM_015938		C	160945096	T	C	160945096	2	2	739	1	0	0	0	0	0	0	0	1	10490	1838	64	3		3	NMD3	3	160945096	Silent	SNP	T	TCGA-KN-8433-01A-11D-2310-10	9779976	160945096	37077334	35	42946											
WDR49	151790	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	3	167245753	167245753	+	Missense_Mutation	SNP	A	A	T			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr3:167245753A>T	ENST00000308378.3	-	11	1708	c.1403T>A	c.(1402-1404)aTa>aAa	p.I468K	WDR49_ENST00000453925.2_Intron|WDR49_ENST00000476376.1_Missense_Mutation_p.I293K|WDR49_ENST00000479765.1_Intron	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	468										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						GAATGATCTTATCAGAGTTGG	0.398																																																0													164	153	157					3																	167245753		2203	4300	6503	SO:0001583	missense	151790			AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"WD repeat domain containing"	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.1403T>A	3.37:g.167245753A>T	ENSP00000311343:p.Ile468Lys		Q8N297	Missense_Mutation	SNP	ENST00000308378.3	37	CCDS3201.1	.	.	.	.	.	.	.	.	.	.	A	11.91	1.779596	0.31502	.	.	ENSG00000174776	ENST00000308378;ENST00000476376	T;T	0.37915	1.43;1.17	5.47	5.47	0.80525	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.916062	0.09445	N	0.801255	T	0.34571	0.0902	L	0.47716	1.5	0.58432	D	0.999999	B	0.30068	0.267	B	0.24701	0.055	T	0.05599	-1.0875	10	0.39692	T	0.17	.	13.08	0.59109	1.0:0.0:0.0:0.0	.	468	Q8IV35	WDR49_HUMAN	K	468;293	ENSP00000311343:I468K;ENSP00000420508:I293K	ENSP00000311343:I468K	I	-	2	0	WDR49	168728447	0.941000	0.31946	0.005000	0.12908	0.018000	0.09664	4.671000	0.61590	2.083000	0.62718	0.445000	0.29226	ATA		0.398	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3	NM_178824		T	167245753	A	T	167245753	3	4	739	1	0	0	0	0	1	0	0	0	17307	449	16	5	710	5	WDR49	3	167245753	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	6300657	167245753	30776677	36	42947											
ALG3	10195	broad.mit.edu;mdanderson.org	37	3	183960376	183960376	+	Missense_Mutation	SNP	C	C	T	rs375976807		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr3:183960376C>T	ENST00000397676.3	-	9	1273	c.1243G>A	c.(1243-1245)Gtc>Atc	p.V415I	MIR1224_ENST00000408193.1_RNA|ALG3_ENST00000455059.1_Missense_Mutation_p.V375I|ALG3_ENST00000418734.2_Missense_Mutation_p.V359I|ALG3_ENST00000463495.1_5'Flank|EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000445626.2_Missense_Mutation_p.V367I	NM_005787.5	NP_005778.1	Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase	415					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-1,3-mannosyltransferase activity (GO:0000033)|dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase activity (GO:0052925)			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGCAGGATGACGGCATGGCAT	0.592																																																0								C	ILE/VAL,ILE/VAL	0,4082		0,0,2041	63	68	66		1099,1243	4.6	0.9	3		66	1,8435		0,1,4217	no	missense,missense	ALG3	NM_001006941.2,NM_005787.5	29,29	0,1,6258	TT,TC,CC		0.0119,0.0,0.0080	benign,benign	367/391,415/439	183960376	1,12517	2041	4218	6259	SO:0001583	missense	10195			BC002839	CCDS46967.1, CCDS46968.1	3q27.3	2013-02-26	2013-02-26		ENSG00000214160	ENSG00000214160	2.4.1.258	"Dolichyl D-mannosyl phosphate dependent mannosyltransferases"	23056	protein-coding gene	gene with protein product	"carbohydrate deficient glycoprotein syndrome type IV", "dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase", "dol-P-Man dependent alpha-1,3- mannosyltransferase"	608750	"asparagine-linked glycosylation 3 homolog (yeast, alpha-1,3-mannosyltransferase)", "asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae)"			1058125	Standard	NM_005787		Approved	NOT56L, Not56, CDGS4, D16Ertd36e	uc003fne.2	Q92685	OTTHUMG00000156823	ENST00000397676.3:c.1243G>A	3.37:g.183960376C>T	ENSP00000380793:p.Val415Ile		A8JZZ6|Q9BT71	Missense_Mutation	SNP	ENST00000397676.3	37	CCDS46968.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.826|4.826	0.153562|0.153562	0.09185|0.09185	0.0|0.0	1.19E-4|1.19E-4	ENSG00000214160|ENSG00000214160	ENST00000446569|ENST00000418734;ENST00000397676;ENST00000445626;ENST00000455059	.|D;D;D;D	.|0.87029	.|-1.63;-2.2;-2.03;-2.04	5.5|5.5	4.63|4.63	0.57726|0.57726	.|.	.|0.318671	.|0.29225	.|N	.|0.012761	T|T	0.73567|0.73567	0.3603|0.3603	N|N	0.19112|0.19112	0.55|0.55	0.32933|0.32933	D|D	0.517347|0.517347	.|B;B;B;B	.|0.12013	.|0.004;0.005;0.0;0.001	.|B;B;B;B	.|0.04013	.|0.001;0.001;0.001;0.001	T|T	0.66044|0.66044	-0.6021|-0.6021	5|10	.|0.05721	.|T	.|0.95	-15.9802|-15.9802	10.001|10.001	0.41929|0.41929	0.0:0.774:0.148:0.078|0.0:0.774:0.148:0.078	.|.	.|367;359;375;415	.|A8JZZ6;B4DS50;C9J7S5;Q92685	.|.;.;.;ALG3_HUMAN	H|I	318|359;415;367;375	.|ENSP00000402976:V359I;ENSP00000380793:V415I;ENSP00000402744:V367I;ENSP00000397613:V375I	.|ENSP00000380793:V415I	R|V	-|-	2|1	0|0	ALG3|ALG3	185443070|185443070	0.285000|0.285000	0.24296|0.24296	0.944000|0.944000	0.38274|0.38274	0.699000|0.699000	0.40488|0.40488	0.758000|0.758000	0.26447|0.26447	1.323000|1.323000	0.45263|0.45263	0.462000|0.462000	0.41574|0.41574	CGT|GTC		0.592	ALG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346033.1	NM_005787		T	183960376	C	T	183960376	3	4	739	1	0	0	0	0	1	0	0	0	520	536	19	1	77	1	ALG3	3	183960376	Missense_Mutation	SNP	C	TCGA-KN-8433-01A-11D-2310-10	16714623	183960376	14062054	37	42948											
AFAP1	60312	mdanderson.org	37	4	7770723	7770723	+	Silent	SNP	G	G	T	rs2285761	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr4:7770723G>T	ENST00000360265.4	-	15	2248	c.2014C>A	c.(2014-2016)Cgg>Agg	p.R672R	AFAP1_ENST00000420658.1_Silent_p.R756R|AFAP1_ENST00000382543.3_Silent_p.R756R|AFAP1_ENST00000513842.1_5'UTR|AFAP1_ENST00000358461.2_Silent_p.R672R|AFAP1-AS1_ENST00000608442.1_RNA			Q8N556	AFAP1_HUMAN	actin filament associated protein 1	672						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						GTCCGGTGCCGGAACACTGGA	0.557													T|||	1854	0.370208	0.264	0.3372	5008	,	,		16548	0.6567		0.1849	False		,,,				2504	0.4325															0								T	,	1053,3353	708.6+/-407.6	127,799,1277	75	90	85		2266,2014	1	0.1	4	dbSNP_100	85	1652,6948	736.1+/-407.0	175,1302,2823	no	coding-synonymous,coding-synonymous	AFAP1	NM_001134647.1,NM_198595.2	,	302,2101,4100	TT,TG,GG		19.2093,23.8992,20.7981	,	756/815,672/731	7770723	2705,10301	2203	4300	6503	SO:0001819	synonymous_variant	60312			AB209676	CCDS3397.1, CCDS47010.1	4p16	2014-02-12	2007-02-07		ENSG00000196526	ENSG00000196526		"Pleckstrin homology (PH) domain containing"	24017	protein-coding gene	gene with protein product		608252				14755689, 11641786, 11607843	Standard	NM_198595		Approved	AFAP-110, AFAP	uc011bwk.1	Q8N556	OTTHUMG00000125515	ENST00000360265.4:c.2014C>A	4.37:g.7770723G>T			A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1	Silent	SNP	ENST00000360265.4	37	CCDS3397.1																																																																																				0.557	AFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246842.2	NM_021638		T	7770723	G	T	7770723	2	4	739	1	0	0	0	0	0	0	0	1	353	1115	39	4		4	AFAP1	4	7770723	Silent	SNP	G	TCGA-KN-8433-01A-11D-2310-10		7770723	183383553	38	42949											
PPARGC1A	10891	mdanderson.org	37	4	23814445	23814445	+	Silent	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr4:23814445T>C	ENST00000264867.2	-	10	2063	c.1944A>G	c.(1942-1944)gaA>gaG	p.E648E	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	648	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)	p.E648D(1)		central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TGCGATATTCTTCCCTCTTCA	0.463																																					Esophageal Squamous(29;694 744 13796 34866 44181)											1	Substitution - Missense(1)	lung(1)											192	178	183					4																	23814445		2203	4300	6503	SO:0001819	synonymous_variant	10891			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.1944A>G	4.37:g.23814445T>C			B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Silent	SNP	ENST00000264867.2	37	CCDS3429.1																																																																																				0.463	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	NM_013261		C	23814445	T	C	23814445	2	2	739	1	0	0	0	0	0	0	0	1	12302	1606	56	3		3	PPARGC1A	4	23814445	Silent	SNP	T	TCGA-KN-8433-01A-11D-2310-10	16043722	23814445	167339831	39	42950											
SEC31A	22872	mdanderson.org	37	4	83774804	83774804	+	Silent	SNP	G	G	A			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr4:83774804G>A	ENST00000395310.2	-	18	2255	c.2073C>T	c.(2071-2073)tgC>tgT	p.C691C	SEC31A_ENST00000509142.1_Silent_p.C691C|SEC31A_ENST00000432794.1_Silent_p.C691C|SEC31A_ENST00000311785.7_Silent_p.C691C|SEC31A_ENST00000513858.1_Silent_p.C652C|SEC31A_ENST00000355196.2_Silent_p.C691C|SEC31A_ENST00000500777.2_Silent_p.C652C|SEC31A_ENST00000505472.1_Silent_p.C691C|SEC31A_ENST00000264405.5_Silent_p.C424C|SEC31A_ENST00000448323.1_Silent_p.C691C|SEC31A_ENST00000326950.5_Silent_p.C652C|SEC31A_ENST00000508502.1_Silent_p.C691C|SEC31A_ENST00000505984.1_Silent_p.C652C|SEC31A_ENST00000443462.2_Silent_p.C686C|SEC31A_ENST00000348405.4_Silent_p.C652C|SEC31A_ENST00000508479.1_Silent_p.C691C	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)	691					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)				CACAAATATAGCAGAGACATG	0.393																																																0													115	112	113					4																	83774804		2203	4300	6503	SO:0001819	synonymous_variant	22872			AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"WD repeat domain containing"	17052	protein-coding gene	gene with protein product		610257	"SEC31-like 1 (S. cerevisiae)", "Sec31 homolog A (S. cerevisiae)"	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.2073C>T	4.37:g.83774804G>A			B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Silent	SNP	ENST00000395310.2	37	CCDS3596.1																																																																																				0.393	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	NM_016211		A	83774804	G	A	83774804	2	1	739	1	0	0	0	0	0	0	0	1	14004	963	34	2		2	SEC31A	4	83774804	Silent	SNP	G	TCGA-KN-8433-01A-11D-2310-10	59960359	83774804	107379472	40	42951											
DMP1	1758	mdanderson.org	37	4	88584283	88584283	+	Silent	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr4:88584283A>G	ENST00000339673.6	+	6	1452	c.1353A>G	c.(1351-1353)gaA>gaG	p.E451E	DMP1_ENST00000282479.7_Silent_p.E435E|RP11-742B18.1_ENST00000507894.1_RNA|RP11-742B18.1_ENST00000506814.1_RNA|RP11-742B18.1_ENST00000506480.1_RNA	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	451					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)		ATTCTGAGGAAGACGACAGTG	0.537																																																0													85	76	79					4																	88584283		2203	4300	6503	SO:0001819	synonymous_variant	1758			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.1353A>G	4.37:g.88584283A>G			A1L4L3|O43265	Silent	SNP	ENST00000339673.6	37	CCDS3623.1																																																																																				0.537	DMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253047.1			G	88584283	A	G	88584283	2	3	739	1	0	0	0	0	0	0	0	1	4585	69	3	3		3	DMP1	4	88584283	Silent	SNP	A	TCGA-KN-8433-01A-11D-2310-10	4809479	88584283	102569993	41	42952											
HERC6	55008	mdanderson.org	37	4	89363472	89363472	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr4:89363472A>G	ENST00000264346.7	+	23	2988	c.2929A>G	c.(2929-2931)Aga>Gga	p.R977G	HERC6_ENST00000380265.5_Missense_Mutation_p.R941G	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	977	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				hematopoietic progenitor cell differentiation (GO:0002244)|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)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		TTTCAGTGAAAGAGATCACCC	0.388																																																0													85	81	82					4																	89363472		1914	4133	6047	SO:0001583	missense	55008			AF336798	CCDS47098.1, CCDS54777.1	4q22	2012-02-23	2012-02-23		ENSG00000138642	ENSG00000138642			26072	protein-coding gene	gene with protein product		609249	"hect domain and RLD 6"				Standard	NM_001165136		Approved	FLJ20637	uc011cdi.2	Q8IVU3	OTTHUMG00000160983	ENST00000264346.7:c.2929A>G	4.37:g.89363472A>G	ENSP00000264346:p.Arg977Gly		B4DIY5|Q5GC90|Q5GRH3|Q5HYM6|Q5JPB6|Q6PIF4|Q8NAN3|Q9NWS4	Missense_Mutation	SNP	ENST00000264346.7	37	CCDS47098.1	.	.	.	.	.	.	.	.	.	.	A	7.415	0.635509	0.14322	.	.	ENSG00000138642	ENST00000380265;ENST00000264346	T;T	0.40225	1.04;1.04	4.69	-0.658	0.11428	HECT (4);	2.080580	0.01635	N	0.023721	T	0.30166	0.0756	N	0.20401	0.57	0.39313	D	0.9651	B;B	0.30146	0.228;0.27	B;B	0.28385	0.053;0.089	T	0.07252	-1.0782	10	0.38643	T	0.18	.	9.0489	0.36363	0.5716:0.0:0.4284:0.0	.	941;977	Q8IVU3-2;Q8IVU3	.;HERC6_HUMAN	G	941;977	ENSP00000369617:R941G;ENSP00000264346:R977G	ENSP00000264346:R977G	R	+	1	2	HERC6	89582495	0.026000	0.19158	0.187000	0.23214	0.651000	0.38670	0.056000	0.14256	0.032000	0.15435	0.482000	0.46254	AGA		0.388	HERC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363259.2			G	89363472	A	G	89363472	3	3	739	1	0	0	0	0	1	0	0	0	7064	64	3	3	2816	3	HERC6	4	89363472	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	779189	89363472	101790804	42	42953											
NHEDC1	150159	mdanderson.org	37	4	103826769	103826769	+	Nonsense_Mutation	SNP	G	G	A	rs200075071		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr4:103826769G>A	ENST00000296422.7	-	11	1375	c.1234C>T	c.(1234-1236)Cga>Tga	p.R412*	SLC9B1_ENST00000394789.3_Nonsense_Mutation_p.R412*|SLC9B1_ENST00000512651.2_Intron	NM_139173.3	NP_631912	Q4ZJI4	SL9B1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	412					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)										GTTAAAATTCGAACACATAAT	0.343																																																0													46	48	48					4																	103826769		2200	4294	6494	SO:0001587	stop_gained	150159			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.1234C>T	4.37:g.103826769G>A	ENSP00000296422:p.Arg412*		A1KXV1|B9EH04|C9JBP7|Q49A30|Q8NCV2|Q8WVZ0	Nonsense_Mutation	SNP	ENST00000296422.7	37	CCDS34041.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.313112	0.81358	.	.	ENSG00000164037	ENST00000394789;ENST00000296422	.	.	.	3.47	2.61	0.31194	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-27.7024	9.543	0.39264	0.0:0.0:0.62:0.38	.	.	.	.	X	412	.	ENSP00000296422:R412X	R	-	1	2	SLC9B1	104046218	0.997000	0.39634	0.506000	0.27664	0.716000	0.41182	2.574000	0.46016	0.760000	0.33108	0.484000	0.47621	CGA		0.343	SLC9B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363841.1	NM_139173		A	103826769	G	A	103826769	4	1	739	1	0	0	0	0	0	1	0	0	10402	1066	37	1	421	1	NHEDC1	4	103826769	Nonsense_Mutation	SNP	G	TCGA-KN-8433-01A-11D-2310-10	14463297	103826769	87327507	43	42954											
NHEDC1	150159	mdanderson.org	37	4	103870560	103870560	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr4:103870560C>T	ENST00000296422.7	-	4	377	c.236G>A	c.(235-237)tGt>tAt	p.C79Y	SLC9B1_ENST00000394789.3_Missense_Mutation_p.C79Y	NM_139173.3	NP_631912	Q4ZJI4	SL9B1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	79					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)										CCAGGTCATACACCATATCAC	0.328																																																0													52	52	52					4																	103870560		2173	4291	6464	SO:0001583	missense	150159			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.236G>A	4.37:g.103870560C>T	ENSP00000296422:p.Cys79Tyr		A1KXV1|B9EH04|C9JBP7|Q49A30|Q8NCV2|Q8WVZ0	Missense_Mutation	SNP	ENST00000296422.7	37	CCDS34041.1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.096865	0.37048	.	.	ENSG00000164037	ENST00000394789;ENST00000296422;ENST00000452285	T;T	0.18338	2.22;2.24	3.71	1.9	0.25705	.	0.621647	0.13757	N	0.364841	T	0.28995	0.0720	M	0.61703	1.905	0.25139	N	0.990519	P;P	0.44627	0.839;0.806	P;P	0.53760	0.734;0.536	T	0.07731	-1.0757	10	0.72032	D	0.01	-2.2718	8.5852	0.33653	0.1443:0.3519:0.5038:0.0	.	79;79	Q4ZJI4;Q4ZJI4-3	SL9B1_HUMAN;.	Y	79	ENSP00000378269:C79Y;ENSP00000296422:C79Y	ENSP00000296422:C79Y	C	-	2	0	SLC9B1	104090009	0.820000	0.29190	0.417000	0.26559	0.034000	0.12701	0.289000	0.18957	0.328000	0.23435	0.555000	0.69702	TGT		0.328	SLC9B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363841.1	NM_139173		T	103870560	C	T	103870560	3	4	739	1	0	0	0	0	1	0	0	0	10402	478	17	2	1447	2	NHEDC1	4	103870560	Missense_Mutation	SNP	C	TCGA-KN-8433-01A-11D-2310-10	43791	103870560	87283716	44	42955											
FBXW7	55294	mdanderson.org	37	4	153332484	153332484	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr4:153332484A>G	ENST00000281708.4	-	2	1701	c.472T>C	c.(472-474)Tcc>Ccc	p.S158P	FBXW7_ENST00000604872.1_Missense_Mutation_p.S158P|FBXW7_ENST00000603841.1_Missense_Mutation_p.S158P|FBXW7_ENST00000603548.1_Missense_Mutation_p.S158P	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	158					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)			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)				AATGGGGAGGAGAGTTGGTGA	0.348			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																		Rec	yes		4	4q31.3	55294	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"		"E, L"	0													173	139	151					4																	153332484		2203	4300	6503	SO:0001583	missense	55294			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"F-boxes / WD-40 domains", "WD repeat domain containing"	16712	protein-coding gene	gene with protein product	"archipelago homolog (Drosophila)"	606278	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)", "F-box and WD repeat domain containing 7"			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.472T>C	4.37:g.153332484A>G	ENSP00000281708:p.Ser158Pro		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	A	12.31	1.900813	0.33535	.	.	ENSG00000109670	ENST00000281708	T	0.56941	0.43	5.54	5.54	0.83059	.	1.610430	0.02973	N	0.144619	T	0.47173	0.1431	N	0.19112	0.55	0.80722	D	1	B	0.34214	0.442	B	0.31869	0.137	T	0.10520	-1.0626	10	0.56958	D	0.05	-3.3189	15.6888	0.77434	1.0:0.0:0.0:0.0	.	158	Q969H0	FBXW7_HUMAN	P	158	ENSP00000281708:S158P	ENSP00000281708:S158P	S	-	1	0	FBXW7	153551934	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.572000	0.60886	2.114000	0.64651	0.528000	0.53228	TCC		0.348	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			G	153332484	A	G	153332484	3	3	739	1	0	0	0	0	1	0	0	0	5771	304	11	3	2111	3	FBXW7	4	153332484	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	49461924	153332484	37821792	45	42956											
FHDC1	85462	broad.mit.edu	37	4	153896828	153896829	+	Frame_Shift_Ins	INS	-	-	G	rs372925250		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr4:153896828_153896829insG	ENST00000511601.1	+	12	2573_2574	c.2385_2386insG	c.(2386-2388)gggfs	p.G796fs	FHDC1_ENST00000260008.3_Frame_Shift_Ins_p.G796fs			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	796									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)					GACCCAGAGGCGGGGACCCGGA	0.614																																																0																																										SO:0001589	frameshift_variant	85462			AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.2389dupG	4.37:g.153896832_153896832dupG	ENSP00000427567:p.Gly796fs			Frame_Shift_Ins	INS	ENST00000511601.1	37	CCDS34081.1																																																																																				0.614	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	NM_033393		G	153896829	-	G	153896828	7	5	739	1	0	1	1	0	0	0	0	0	5878	755	27	0	2427	0	FHDC1	4	153896828	Frame_Shift_Ins	INS	-	TCGA-KN-8433-01A-11D-2310-10	564344	153896828	37257448	46	42957											
GRIA2	2891	mdanderson.org	37	4	158257800	158257800	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr4:158257800A>G	ENST00000264426.9	+	11	2024	c.1745A>G	c.(1744-1746)gAa>gGa	p.E582G	GRIA2_ENST00000393815.2_Missense_Mutation_p.E535G|GRIA2_ENST00000507898.1_Missense_Mutation_p.E535G|GRIA2_ENST00000296526.7_Missense_Mutation_p.E582G|GRIA2_ENST00000449365.1_Missense_Mutation_p.E535G	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	582					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	GATGGAAGAGAAACACAAAGT	0.423																																																0													151	147	148					4																	158257800		2203	4300	6503	SO:0001583	missense	2891				CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.1745A>G	4.37:g.158257800A>G	ENSP00000264426:p.Glu582Gly		A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	ENST00000264426.9	37	CCDS43274.1	.	.	.	.	.	.	.	.	.	.	A	14.19	2.460118	0.43736	.	.	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000296526;ENST00000264426;ENST00000449365	T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57	5.66	5.66	0.87406	Ionotropic glutamate receptor (2);	0.292159	0.34362	N	0.004035	T	0.42426	0.1202	N	0.25789	0.76	0.53688	D	0.999979	B;B;B	0.31193	0.312;0.141;0.094	B;B;B	0.28305	0.072;0.088;0.072	T	0.41520	-0.9504	10	0.62326	D	0.03	.	16.1819	0.81915	1.0:0.0:0.0:0.0	.	582;582;535	P42262;P42262-2;A8MT92	GRIA2_HUMAN;.;.	G	535;535;582;582;535	ENSP00000426845:E535G;ENSP00000377403:E535G;ENSP00000296526:E582G;ENSP00000264426:E582G;ENSP00000389837:E535G	ENSP00000264426:E582G	E	+	2	0	GRIA2	158477250	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.928000	0.70088	2.279000	0.76181	0.533000	0.62120	GAA		0.423	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			G	158257800	A	G	158257800	3	3	739	1	0	0	0	0	1	0	0	0	6770	246	9	3	1787	3	GRIA2	4	158257800	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	4360972	158257800	32896476	47	42958											
CPE	1363	mdanderson.org	37	4	166385729	166385729	+	Silent	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr4:166385729A>G	ENST00000402744.4	+	2	775	c.495A>G	c.(493-495)gcA>gcG	p.A165A		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	165					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)"	TTGAGAAGGCAGCGTCTCAGG	0.473											OREG0016390	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													111	96	101					4																	166385729		2203	4300	6503	SO:0001819	synonymous_variant	1363			X51405	CCDS3810.1	4q32.3	2012-02-10			ENSG00000109472	ENSG00000109472	3.4.17.10		2303	protein-coding gene	gene with protein product	"carboxypeptidase H", "enkephalin convertase", "insulin granule-associated carboxypeptidase", "cobalt-stimulated chromaffin granule carboxypeptidase"	114855				2334405	Standard	NM_001873		Approved		uc003irg.4	P16870	OTTHUMG00000150252	ENST00000402744.4:c.495A>G	4.37:g.166385729A>G		1854	A8K4N1|B3KR42|B4DFN4|D3DP33|Q9UIU9	Silent	SNP	ENST00000402744.4	37	CCDS3810.1																																																																																				0.473	CPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317094.2	NM_001873		G	166385729	A	G	166385729	2	3	739	1	0	0	0	0	0	0	0	1	3801	175	7	3		3	CPE	4	166385729	Silent	SNP	A	TCGA-KN-8433-01A-11D-2310-10	8127929	166385729	24768547	48	42959											
DDX60L	91351	mdanderson.org	37	4	169374381	169374381	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr4:169374381C>T	ENST00000511577.1	-	8	1137	c.890G>A	c.(889-891)cGt>cAt	p.R297H	DDX60L_ENST00000505890.1_Missense_Mutation_p.R297H|DDX60L_ENST00000260184.7_Missense_Mutation_p.R297H			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	297							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)	p.R297L(1)		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)		ACAGAGGCAACGCAGTCTGCA	0.458																																																1	Substitution - Missense(1)	lung(1)											88	92	90					4																	169374381		2003	4176	6179	SO:0001583	missense	91351			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.890G>A	4.37:g.169374381C>T	ENSP00000422423:p.Arg297His		Q96ND6	Missense_Mutation	SNP	ENST00000511577.1	37		.	.	.	.	.	.	.	.	.	.	C	2.777	-0.254392	0.05829	.	.	ENSG00000181381	ENST00000260184;ENST00000511577;ENST00000505890;ENST00000505863	T;T;T;T	0.15718	2.4;2.4;2.4;3.06	3.3	-1.09	0.09904	.	0.782659	0.10119	N	0.713632	T	0.04452	0.0122	N	0.01009	-1.055	0.09310	N	1	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.01281	0.0;0.0;0.0	T	0.44360	-0.9333	10	0.14656	T	0.56	.	6.5863	0.22622	0.0:0.3112:0.0:0.6888	.	297;297;297	E9PAP8;D6R906;Q5H9U9	.;.;DDX6L_HUMAN	H	297;297;297;25	ENSP00000260184:R297H;ENSP00000422423:R297H;ENSP00000422202:R297H;ENSP00000421026:R25H	ENSP00000260184:R297H	R	-	2	0	DDX60L	169610956	0.015000	0.18098	0.001000	0.08648	0.759000	0.43091	0.485000	0.22324	-0.458000	0.07023	-0.444000	0.05651	CGT		0.458	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967		T	169374381	C	T	169374381	3	4	739	1	0	0	0	0	1	0	0	0	4381	536	19	1	4354	1	DDX60L	4	169374381	Missense_Mutation	SNP	C	TCGA-KN-8433-01A-11D-2310-10	2988652	169374381	21779895	49	42960											
C4orf27	54969	mdanderson.org	37	4	170678993	170678993	+	Silent	SNP	T	T	C	rs11540095	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr4:170678993T>C	ENST00000393381.2	-	1	111	c.36A>G	c.(34-36)ggA>ggG	p.G12G		NM_017867.2	NP_060337.2	Q9NWY4	CD027_HUMAN	chromosome 4 open reading frame 27	12						nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	12		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.018)|LUSC - Lung squamous cell carcinoma(193;0.116)		GCGGCCCCTCTCCGCCGGGCC	0.692													C|||	3893	0.777356	0.6899	0.7954	5008	,	,		12693	0.881		0.7843	False		,,,				2504	0.7689															0								C		2972,1212		1062,848,182	5	6	6		36	1.7	0.7	4	dbSNP_120	6	6667,1561		2735,1197,182	no	coding-synonymous	C4orf27	NM_017867.2		3797,2045,364	CC,CT,TT		18.9718,28.9675,22.3413		12/347	170678993	9639,2773	2092	4114	6206	SO:0001819	synonymous_variant	54969			BC010367	CCDS3813.1	4q33	2011-01-25			ENSG00000056050	ENSG00000056050			26051	protein-coding gene	gene with protein product						11230166	Standard	NM_017867		Approved	FLJ20534	uc003isl.4	Q9NWY4	OTTHUMG00000160960	ENST00000393381.2:c.36A>G	4.37:g.170678993T>C				Silent	SNP	ENST00000393381.2	37	CCDS3813.1																																																																																				0.692	C4orf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363140.1	NM_017867		C	170678993	T	C	170678993	2	2	739	1	0	0	0	0	0	0	0	1	2260	1538	54	3		3	C4orf27	4	170678993	Silent	SNP	T	TCGA-KN-8433-01A-11D-2310-10	1304612	170678993	20475283	50	42961											
FRG1	2483	mdanderson.org	37	4	190883028	190883028	+	Silent	SNP	C	C	T			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr4:190883028C>T	ENST00000226798.4	+	8	903	c.681C>T	c.(679-681)gaC>gaT	p.D227D		NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	227					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)		GTAAAGAAGACAGTAAAATTC	0.323																																																0													77	95	89					4																	190883028		2158	4226	6384	SO:0001819	synonymous_variant	2483			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.681C>T	4.37:g.190883028C>T			A8K775	Silent	SNP	ENST00000226798.4	37	CCDS34121.1																																																																																				0.323	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		T	190883028	C	T	190883028	2	4	739	1	0	0	0	0	0	0	0	1	6048	477	17	2		2	FRG1	4	190883028	Silent	SNP	C	TCGA-KN-8433-01A-11D-2310-10	20204035	190883028	271248	51	42962											
FRG1	2483	mdanderson.org	37	4	190883051	190883051	+	Missense_Mutation	SNP	G	G	A	rs1803593		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr4:190883051G>A	ENST00000226798.4	+	8	926	c.704G>A	c.(703-705)cGg>cAg	p.R235Q		NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	235					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)		AAAAAGGCTCGGAAAGATGGA	0.328																																																0													81	99	93					4																	190883051		2158	4213	6371	SO:0001583	missense	2483			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.704G>A	4.37:g.190883051G>A	ENSP00000226798:p.Arg235Gln		A8K775	Missense_Mutation	SNP	ENST00000226798.4	37	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	15.68	2.904307	0.52333	.	.	ENSG00000109536	ENST00000226798	T	0.34472	1.36	4.07	3.23	0.37069	.	0.049801	0.85682	D	0.000000	T	0.27967	0.0689	.	.	.	0.58432	D	0.999998	B	0.30439	0.279	B	0.28385	0.089	T	0.07404	-1.0774	9	0.48119	T	0.1	1.7828	10.172	0.42915	0.1019:0.0:0.8981:0.0	rs1803593;rs3202757;rs17435102	235	Q14331	FRG1_HUMAN	Q	235	ENSP00000226798:R235Q	ENSP00000226798:R235Q	R	+	2	0	FRG1	191120045	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.403000	0.79983	0.849000	0.35215	-0.359000	0.07587	CGG		0.328	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		A	190883051	G	A	190883051	3	1	739	1	0	0	0	0	1	0	0	0	6048	1116	39	1	734	1	FRG1	4	190883051	Missense_Mutation	SNP	G	TCGA-KN-8433-01A-11D-2310-10	23	190883051	271225	52	42963											
PRDM9	56979	mdanderson.org	37	5	23527721	23527721	+	Missense_Mutation	SNP	C	C	A	rs201643800		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr5:23527721C>A	ENST00000296682.3	+	11	2706	c.2524C>A	c.(2524-2526)Cgc>Agc	p.R842S		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	842					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						GCGGGGCTTTCGCAATAAGTC	0.587										HNSCC(3;0.000094)																																						0													64	74	71					5																	23527721		2182	4295	6477	SO:0001583	missense	56979			AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"-", "Zinc fingers, C2H2-type"	13994	protein-coding gene	gene with protein product	"PR-domain containing protein 9"	609760	"minisatellite binding protein 3, 115kDa", "minisatellite binding protein 3 (115kD)"	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.2524C>A	5.37:g.23527721C>A	ENSP00000296682:p.Arg842Ser		B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	A	0.001	-3.150552	0.00029	.	.	ENSG00000164256	ENST00000296682	T	0.07567	3.18	2.67	1.45	0.22620	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01940	0.0061	N	0.01438	-0.865	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.44483	-0.9325	9	0.02654	T	1	0.1175	0.5976	0.00739	0.4516:0.2128:0.1287:0.207	.	842	Q9NQV7	PRDM9_HUMAN	S	842	ENSP00000296682:R842S	ENSP00000296682:R842S	R	+	1	0	PRDM9	23563478	0.000000	0.05858	0.005000	0.12908	0.001000	0.01503	-0.822000	0.04448	0.037000	0.15575	-0.566000	0.04163	CGC		0.587	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		A	23527721	C	A	23527721	3	1	739	1	0	0	0	0	1	0	0	0	12468	884	31	4	2562	4	PRDM9	5	23527721	Missense_Mutation	SNP	C	TCGA-KN-8433-01A-11D-2310-10		23527721	157387539	53	42964											
RAI14	26064	mdanderson.org	37	5	34824215	34824215	+	Silent	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr5:34824215A>G	ENST00000265109.3	+	15	2555	c.2268A>G	c.(2266-2268)gaA>gaG	p.E756E	RAI14_ENST00000512629.1_Silent_p.E727E|RAI14_ENST00000515799.1_Silent_p.E759E|RAI14_ENST00000428746.2_Silent_p.E756E|RAI14_ENST00000506376.1_Silent_p.E748E|RAI14_ENST00000397449.1_Silent_p.E749E|RAI14_ENST00000503673.1_Silent_p.E756E	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	756						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					ATCTTAAGGAACACCTTGCAA	0.423																																																0													80	77	78					5																	34824215		2203	4300	6503	SO:0001819	synonymous_variant	26064			AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"Ankyrin repeat domain containing"	14873	protein-coding gene	gene with protein product	"novel retinal pigment epithelial"	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.2268A>G	5.37:g.34824215A>G			E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Silent	SNP	ENST00000265109.3	37	CCDS34142.1																																																																																				0.423	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577		G	34824215	A	G	34824215	2	3	739	1	0	0	0	0	0	0	0	1	13014	40	2	3		3	RAI14	5	34824215	Silent	SNP	A	TCGA-KN-8433-01A-11D-2310-10	11296494	34824215	146091045	54	42965											
HCN1	348980	broad.mit.edu;hgsc.bcm.edu	37	5	45262024	45262025	+	Stop_Codon_Ins	INS	-	-	A			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr5:45262024_45262025insA	ENST00000303230.4	-	0	2728_2729					NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1						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						CAGCAGGGATCATAAATTTGAA	0.431																																																0																																										SO:0001567	stop_retained_variant	348980			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.2672dupT	5.37:g.45262025_45262025dupA	ENSP00000307342:p.*891Leuext*35			Missense_Mutation	INS	ENST00000303230.4	37	CCDS3952.1																																																																																				0.431	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		A	45262025	-	A	45262024	7	5	739	1	0	1	1	0	0	0	0	0	6998	837	29	0	4	0	HCN1	5	45262024	Stop_Codon_Ins	INS	-	TCGA-KN-8433-01A-11D-2310-10	10437809	45262024	135653236	55	42966	407	3									
HCN1	348980	bcgsc.ca	37	5	45262025	45262026	+	Stop_Codon_Ins	INS	-	-	A			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr5:45262025_45262026insA	ENST00000303230.4	-	0	2727_2728					NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1						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						AGCAGGGATCATAAATTTGAAG	0.431																																																0																																										SO:0001567	stop_retained_variant	348980			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.2670dupT	5.37:g.45262025_45262025dupA	ENSP00000307342:p.*891Leuext*35			Missense_Mutation	INS	ENST00000303230.4	37	CCDS3952.1																																																																																				0.431	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		A	45262026	-	A	45262025	7	5	739	1	0	1	1	0	0	0	0	0	6998	230	8	0	5	0	HCN1	5	45262025	Stop_Codon_Ins	INS	-	TCGA-KN-8433-01A-11D-2310-10	1	45262025	135653235	56	42967	407	3									
HCN1	348980	hgsc.bcm.edu;bcgsc.ca	37	5	45262026	45262026	+	Missense_Mutation	SNP	T	T	A			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr5:45262026T>A	ENST00000303230.4	-	8	2727	c.2670A>T	c.(2668-2670)ttA>ttT	p.L890F		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	890					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						GCAGGGATCATAAATTTGAAG	0.433																																																0													86	101	96					5																	45262026		2202	4300	6502	SO:0001583	missense	348980			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.2670A>T	5.37:g.45262026T>A	ENSP00000307342:p.Leu890Phe			Missense_Mutation	SNP	ENST00000303230.4	37	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	T	16.33	3.093047	0.56075	.	.	ENSG00000164588	ENST00000303230	D	0.98550	-4.99	5.01	5.01	0.66863	.	0.000000	0.49305	D	0.000146	D	0.97439	0.9162	L	0.29908	0.895	0.41621	D	0.988966	D	0.64830	0.994	P	0.58077	0.832	D	0.98805	1.0741	10	0.87932	D	0	.	15.0368	0.71754	0.0:0.0:0.0:1.0	.	890	O60741	HCN1_HUMAN	F	890	ENSP00000307342:L890F	ENSP00000307342:L890F	L	-	3	2	HCN1	45297783	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.629000	0.54266	2.013000	0.59113	0.529000	0.55759	TTA		0.433	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		A	45262026	T	A	45262026	3	1	739	1	0	0	0	0	1	0	0	0	6998	1403	49	5	6	5	HCN1	5	45262026	Missense_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10	1	45262026	135653234	57	42968	407	3									
BDP1	55814	mdanderson.org	37	5	70800538	70800538	+	Missense_Mutation	SNP	G	G	A	rs3761967	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr5:70800538G>A	ENST00000358731.4	+	16	2595	c.2332G>A	c.(2332-2334)Gtg>Atg	p.V778M	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	778			V -> M (in dbSNP:rs3761967).		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)		TTTTCAAAATGTGCAGCCAGA	0.328													G|||	2167	0.432708	0.385	0.3444	5008	,	,		16468	0.379		0.4911	False		,,,				2504	0.5552															0								G	MET/VAL	1365,2307		257,851,728	93	85	87		2332	-3.4	0	5	dbSNP_107	87	3941,4237		979,1983,1127	yes	missense	BDP1	NM_018429.2	21	1236,2834,1855	AA,AG,GG		48.1903,37.1732,44.7764	benign	778/2625	70800538	5306,6544	1836	4089	5925	SO:0001583	missense	55814			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.2332G>A	5.37:g.70800538G>A	ENSP00000351575:p.Val778Met		Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	CCDS43328.1	911	0.41712454212454214	185	0.37601626016260165	126	0.34806629834254144	223	0.38986013986013984	377	0.4973614775725594	G	1.874	-0.459559	0.04508	0.371732	0.481903	ENSG00000145734	ENST00000358731;ENST00000437938;ENST00000451951;ENST00000444711	T	0.13538	2.58	4.48	-3.44	0.04796	.	2.140630	0.01851	N	0.035904	T	0.00012	0.0000	L	0.44542	1.39	0.58432	P	1.999999999946489E-6	B;P;B	0.39022	0.426;0.655;0.065	B;B;B	0.36719	0.14;0.231;0.052	T	0.41945	-0.9480	9	0.40728	T	0.16	.	1.3101	0.02096	0.4538:0.1427:0.2419:0.1615	rs3761967;rs56560745;rs59612064;rs3761967	778;778;778	A6H8Y1;A6H8Y1-2;A6H8Y1-4	BDP1_HUMAN;.;.	M	778;778;358;778	ENSP00000351575:V778M	ENSP00000351575:V778M	V	+	1	0	BDP1	70836294	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.015000	0.12634	-0.485000	0.06754	-0.802000	0.03209	GTG		0.328	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		A	70800538	G	A	70800538	3	1	739	1	0	0	0	0	1	0	0	0	1395	1377	48	2	2394	2	BDP1	5	70800538	Missense_Mutation	SNP	G	TCGA-KN-8433-01A-11D-2310-10	25538512	70800538	110114722	58	42969											
ZNF366	167465	ucsc.edu;mdanderson.org;bcgsc.ca	37	5	71756876	71756876	+	Missense_Mutation	SNP	C	C	T	rs74552129	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr5:71756876C>T	ENST00000318442.5	-	2	938	c.448G>A	c.(448-450)Gtc>Atc	p.V150I		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	150					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)		TCCTGCTTGACGGGCTTGCCC	0.637													C|||	66	0.0131789	0.0477	0.0043	5008	,	,		16704	0.0		0.0	False		,,,				2504	0.0															0								C	ILE/VAL	162,4244	109.9+/-148.2	5,152,2046	103	114	110		448	1.6	0.2	5	dbSNP_131	110	0,8600		0,0,4300	yes	missense	ZNF366	NM_152625.1	29	5,152,6346	TT,TC,CC		0.0,3.6768,1.2456	benign	150/745	71756876	162,12844	2203	4300	6503	SO:0001583	missense	167465			AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"Zinc fingers, C2H2-type"	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.448G>A	5.37:g.71756876C>T	ENSP00000313158:p.Val150Ile		Q5HYI9|Q7RTV4	Missense_Mutation	SNP	ENST00000318442.5	37	CCDS4015.1	24	0.01098901098901099	22	0.044715447154471545	2	0.0055248618784530384	0	0.0	0	0.0	C	0.202	-1.043765	0.01997	0.036768	0.0	ENSG00000178175	ENST00000318442	T	0.32753	1.44	5.82	1.64	0.23874	.	0.389793	0.24703	N	0.036298	T	0.02888	0.0086	N	0.11201	0.11	0.23585	N	0.997353	B	0.10296	0.003	B	0.06405	0.002	T	0.21280	-1.0250	10	0.23302	T	0.38	-26.4553	7.2969	0.26397	0.0:0.4013:0.0:0.5987	.	150	Q8N895	ZN366_HUMAN	I	150	ENSP00000313158:V150I	ENSP00000313158:V150I	V	-	1	0	ZNF366	71792632	0.922000	0.31269	0.192000	0.23308	0.174000	0.22865	1.345000	0.33953	0.304000	0.22809	0.561000	0.74099	GTC		0.637	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218574.3			T	71756876	C	T	71756876	3	4	739	1	0	0	0	0	1	0	0	0	17875	536	19	1	1802	1	ZNF366	5	71756876	Missense_Mutation	SNP	C	TCGA-KN-8433-01A-11D-2310-10	956338	71756876	109158384	59	42970											
PCDHB10	56126	mdanderson.org	37	5	140572820	140572820	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr5:140572820T>C	ENST00000239446.4	+	1	879	c.695T>C	c.(694-696)gTc>gCc	p.V232A		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	232	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)			CGCATCGTTGTCTTGGACGTC	0.552																																																0													75	78	77					5																	140572820		2203	4300	6503	SO:0001583	missense	56126			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.695T>C	5.37:g.140572820T>C	ENSP00000239446:p.Val232Ala		Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	T	13.41	2.229226	0.39399	.	.	ENSG00000120324	ENST00000239446	T	0.68181	-0.31	3.41	3.41	0.39046	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.87010	0.6071	H	0.98612	4.28	0.37600	D	0.920501	D	0.61697	0.99	D	0.65573	0.936	D	0.92125	0.5707	9	0.87932	D	0	.	12.0382	0.53438	0.0:0.0:0.0:1.0	.	232	Q9UN67	PCDBA_HUMAN	A	232	ENSP00000239446:V232A	ENSP00000239446:V232A	V	+	2	0	PCDHB10	140553004	1.000000	0.71417	0.004000	0.12327	0.178000	0.23041	6.028000	0.70889	1.572000	0.49736	0.454000	0.30748	GTC		0.552	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		C	140572820	T	C	140572820	3	2	739	1	0	0	0	0	1	0	0	0	11537	1667	58	3	697	3	PCDHB10	5	140572820	Missense_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10	68815944	140572820	40342440	60	42971											
ATXN1	6310	mdanderson.org	37	6	16327918	16327918	+	Missense_Mutation	SNP	C	C	A	rs28555263	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr6:16327918C>A	ENST00000244769.4	-	8	1560	c.624G>T	c.(622-624)caG>caT	p.Q208H	ATXN1_ENST00000436367.1_Missense_Mutation_p.Q208H	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	208	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)				gatgctgatgctgctgctgct	0.662													C|||	649	0.129593	0.1437	0.1153	5008	,	,		12912	0.2044		0.0318	False		,,,				2504	0.1442															0													5	8	7					6																	16327918		1579	3505	5084	SO:0001583	missense	6310			X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"Ataxins"	10548	protein-coding gene	gene with protein product		601556	"spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.624G>T	6.37:g.16327918C>A	ENSP00000244769:p.Gln208His		Q17S02|Q9UJG2|Q9Y4J1	Missense_Mutation	SNP	ENST00000244769.4	37	CCDS34342.1	.	.	.	.	.	.	.	.	.	.	C	5.901	0.350402	0.11182	.	.	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	T;T	0.56103	0.48;0.48	0.0465	0.0465	0.14256	.	.	.	.	.	T	0.09158	0.0226	N	0.08118	0	0.09310	N	1	P	0.39520	0.676	B	0.36030	0.216	T	0.18493	-1.0335	8	0.13108	T	0.6	.	.	.	.	rs28555263	208	P54253	ATX1_HUMAN	H	208	ENSP00000244769:Q208H;ENSP00000416360:Q208H	ENSP00000244769:Q208H	Q	-	3	2	ATXN1	16435897	0.129000	0.22400	0.018000	0.16275	0.062000	0.15995	1.183000	0.32041	0.132000	0.18615	0.134000	0.15878	CAG		0.662	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		A	16327918	C	A	16327918	3	1	739	1	0	0	0	0	1	0	0	0	1209	796	28	4	1831	4	ATXN1	6	16327918	Missense_Mutation	SNP	C	TCGA-KN-8433-01A-11D-2310-10		16327918	154787149	61	42972											
KIAA0319	9856	mdanderson.org	37	6	24588884	24588884	+	Missense_Mutation	SNP	C	C	T	rs4504469	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr6:24588884C>T	ENST00000378214.3	-	4	1455	c.931G>A	c.(931-933)Gca>Aca	p.A311T	KIAA0319_ENST00000543707.1_Missense_Mutation_p.A311T|KIAA0319_ENST00000537886.1_Missense_Mutation_p.A311T|KIAA0319_ENST00000535378.1_Missense_Mutation_p.A302T|KIAA0319_ENST00000430948.2_Missense_Mutation_p.A266T	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	311			A -> T (may be associated with susceptibility to dyslexia; dbSNP:rs4504469). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:15717286}.		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						GAGGGGGCTGCGCTAGTGGGA	0.537													C|||	1031	0.205871	0.0371	0.2248	5008	,	,		16182	0.1121		0.4225	False		,,,				2504	0.2945															0			GRCh37	CM057333	KIAA0319	M	rs4504469	C	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	423,3983	205.5+/-227.4	18,387,1798	153	134	140	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	904,931,796,931,931	-4.6	0	6	dbSNP_111	140	3471,5129	509.3+/-377.2	721,2029,1550	yes	missense,missense,missense,missense,missense	KIAA0319	NM_001168374.1,NM_001168375.1,NM_001168376.1,NM_001168377.1,NM_014809.3	58,58,58,58,58	739,2416,3348	TT,TC,CC		40.3605,9.6005,29.94	benign,benign,benign,benign,benign	302/1064,311/1073,266/1028,311/1012,311/1073	24588884	3894,9112	2203	4300	6503	SO:0001583	missense	9856			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.931G>A	6.37:g.24588884C>T	ENSP00000367459:p.Ala311Thr		A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	ENST00000378214.3	37	CCDS34348.1	508	0.2326007326007326	20	0.04065040650406504	80	0.22099447513812154	71	0.12412587412587413	337	0.4445910290237467	C	3.297	-0.143640	0.06627	0.096005	0.403605	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.06608	3.28;3.28;3.29;3.29;3.29	4.15	-4.6	0.03390	Fibronectin, type III (1);	0.966085	0.08434	N	0.946419	T	0.00440	0.0014	N	0.00500	-1.43	0.80722	P	0.0	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.06405	0.001;0.002;0.001	T	0.47394	-0.9121	9	0.13470	T	0.59	0.5859	7.8238	0.29303	0.0:0.5077:0.1377:0.3546	rs4504469;rs52835077;rs4504469	311;302;311	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	T	311;302;266;311;311	ENSP00000439700:A311T;ENSP00000442403:A302T;ENSP00000401086:A266T;ENSP00000367459:A311T;ENSP00000437656:A311T	ENSP00000367459:A311T	A	-	1	0	KIAA0319	24696863	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-1.525000	0.02231	-1.160000	0.02804	-0.483000	0.04790	GCA		0.537	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809		T	24588884	C	T	24588884	3	4	739	1	0	0	0	0	1	0	0	0	8170	768	27	1	2359	1	KIAA0319	6	24588884	Missense_Mutation	SNP	C	TCGA-KN-8433-01A-11D-2310-10	8260966	24588884	146526183	62	42973											
SLC17A4	10050	mdanderson.org	37	6	25776845	25776845	+	Missense_Mutation	SNP	C	C	T	rs368361659		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr6:25776845C>T	ENST00000377905.4	+	9	1129	c.1010C>T	c.(1009-1011)cCg>cTg	p.P337L	SLC17A4_ENST00000439485.2_Missense_Mutation_p.P107L|SLC17A4_ENST00000397076.2_Missense_Mutation_p.P107L	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	337					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.P337R(1)|p.P337Q(1)		breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TCTGCCTTGCCGTTTGTTGTT	0.507																																																2	Substitution - Missense(2)	upper_aerodigestive_tract(1)|lung(1)						C	LEU/PRO	0,4406		0,0,2203	281	264	270		1010	3.8	0.6	6		270	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC17A4	NM_005495.2	98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	337/498	25776845	1,13005	2203	4300	6503	SO:0001583	missense	10050			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.1010C>T	6.37:g.25776845C>T	ENSP00000367137:p.Pro337Leu		B4DDV9|E7EPE8|E7EU17|Q32MB7|Q32MB8	Missense_Mutation	SNP	ENST00000377905.4	37	CCDS4564.1	.	.	.	.	.	.	.	.	.	.	C	19.90	3.912191	0.72983	0.0	1.16E-4	ENSG00000146039	ENST00000377905;ENST00000439485;ENST00000397076	T;T;T	0.57907	0.41;0.44;0.37	5.63	3.75	0.43078	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.405156	0.21226	N	0.078063	T	0.64103	0.2568	M	0.89658	3.05	0.54753	D	0.999988	P;D;D	0.71674	0.895;0.998;0.973	B;P;D	0.63113	0.299;0.867;0.911	T	0.69243	-0.5196	10	0.66056	D	0.02	.	8.5883	0.33670	0.0:0.8318:0.0:0.1682	.	107;107;337	E7EPE8;E7EU17;Q9Y2C5	.;.;S17A4_HUMAN	L	337;107;107	ENSP00000367137:P337L;ENSP00000391345:P107L;ENSP00000380266:P107L	ENSP00000367137:P337L	P	+	2	0	SLC17A4	25884824	0.985000	0.35326	0.579000	0.28588	0.949000	0.60115	2.671000	0.46842	0.761000	0.33130	0.655000	0.94253	CCG		0.507	SLC17A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040068.1			T	25776845	C	T	25776845	3	4	739	1	0	0	0	0	1	0	0	0	14425	652	23	1	1040	1	SLC17A4	6	25776845	Missense_Mutation	SNP	C	TCGA-KN-8433-01A-11D-2310-10	1187961	25776845	145338222	63	42974											
ZNF323	64288	mdanderson.org;bcgsc.ca	37	6	28294148	28294148	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr6:28294148A>G	ENST00000414429.1	-	8	1919	c.1016T>C	c.(1015-1017)gTt>gCt	p.V339A	ZSCAN31_ENST00000481934.1_5'UTR|ZSCAN31_ENST00000396838.2_Missense_Mutation_p.V339A|ZSCAN31_ENST00000439158.1_Missense_Mutation_p.V339A|ZSCAN31_ENST00000344279.6_Missense_Mutation_p.V339A|ZSCAN31_ENST00000446474.1_Missense_Mutation_p.V180A			Q96LW9	ZSC31_HUMAN	zinc finger and SCAN domain containing 31	339					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)										CTGATGCTGAACAAGGCATGA	0.507																																																0													204	187	193					6																	28294148		2203	4300	6503	SO:0001583	missense	64288				CCDS4649.1, CCDS59001.1	6p	2013-01-09	2013-01-08	2013-01-08	ENSG00000235109	ENSG00000235109		"-", "Zinc fingers, C2H2-type"	14097	protein-coding gene	gene with protein product		610794	"zinc finger protein 310 pseudogene", "zinc finger protein 323"	ZNF310P, ZNF323			Standard	NM_001135216		Approved		uc003nla.3	Q96LW9	OTTHUMG00000014518	ENST00000414429.1:c.1016T>C	6.37:g.28294148A>G	ENSP00000390076:p.Val339Ala		Q6P178|Q8WWS5	Missense_Mutation	SNP	ENST00000414429.1	37	CCDS4649.1	.	.	.	.	.	.	.	.	.	.	A	12.27	1.888102	0.33348	.	.	ENSG00000235109	ENST00000396838;ENST00000439158;ENST00000414429;ENST00000446474;ENST00000344279;ENST00000435857	T;T;T;T;T;T	0.07021	3.27;3.27;3.27;3.27;3.27;3.23	5.06	2.58	0.30949	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01627	0.0052	N	0.13299	0.325	0.09310	N	1	B	0.13594	0.008	B	0.28849	0.095	T	0.48317	-0.9046	9	0.40728	T	0.16	.	4.9539	0.14029	0.6774:0.1578:0.1649:0.0	.	339	Q96LW9	ZN323_HUMAN	A	339;339;339;180;339;180	ENSP00000380050:V339A;ENSP00000413705:V339A;ENSP00000390076:V339A;ENSP00000402937:V180A;ENSP00000345339:V339A;ENSP00000391235:V180A	ENSP00000345339:V339A	V	-	2	0	ZNF323	28402127	0.000000	0.05858	0.088000	0.20740	0.868000	0.49771	-0.372000	0.07504	0.314000	0.23086	0.528000	0.53228	GTT		0.507	ZSCAN31-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346804.1	NM_030899		G	28294148	A	G	28294148	3	3	739	1	0	0	0	0	1	0	0	0	17848	43	2	3	208	3	ZNF323	6	28294148	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	2517303	28294148	142820919	64	42975											
HLA-C	3107	mdanderson.org	37	6	31238942	31238942	+	Missense_Mutation	SNP	G	G	A	rs2308590	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr6:31238942G>A	ENST00000376228.5	-	3	541	c.527C>T	c.(526-528)gCg>gTg	p.A176V	HLA-C_ENST00000383329.3_Missense_Mutation_p.A176V	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	176	Alpha-2.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						CTGCTCCGCCGCACGGGCCGC	0.677													g|||	1486	0.296725	0.3631	0.3098	5008	,	,		10558	0.244		0.2763	False		,,,				2504	0.273															0													35	23	27					6																	31238942		2189	4271	6460	SO:0001583	missense	3107			M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4933	protein-coding gene	gene with protein product		142840	"psoriasis susceptibility 1"	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.527C>T	6.37:g.31238942G>A	ENSP00000365402:p.Ala176Val		O02864|O02958|Q29643|Q9MY30	Missense_Mutation	SNP	ENST00000376228.5	37	CCDS34393.1	1225	0.5608974358974359	287	0.5833333333333334	201	0.5552486187845304	344	0.6013986013986014	393	0.5184696569920845	.	0.893	-0.724867	0.03158	.	.	ENSG00000204525	ENST00000376228;ENST00000383329;ENST00000396254;ENST00000539307	T;T	0.00009	9.46;9.46	2.81	-5.62	0.02481	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	75.637500	0.00166	N	0.000000	T	0.00012	0.0000	N	0.00044	-2.455	0.09310	N	1	B;B;B;B	0.06786	0.001;0.0;0.001;0.0	B;B;B;B	0.10450	0.005;0.003;0.005;0.003	T	0.50110	-0.8866	10	0.25106	T	0.35	.	2.3839	0.04361	0.2515:0.0841:0.3977:0.2666	rs2308590;rs9264656;rs17839940	176;176;176;176	A2AEA4;A6H578;A2AEA2;P10321	.;.;.;1C07_HUMAN	V	176;176;176;213	ENSP00000365402:A176V;ENSP00000372819:A176V	ENSP00000365402:A176V	A	-	2	0	HLA-C	31346921	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-15.955000	0.00000	-4.565000	0.00042	-3.123000	0.00061	GCG		0.677	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076281.3	NM_002117		A	31238942	G	A	31238942	3	1	739	1	0	0	0	0	1	0	0	0	7199	1087	38	1	597	1	HLA-C	6	31238942	Missense_Mutation	SNP	G	TCGA-KN-8433-01A-11D-2310-10	2944794	31238942	139876125	65	42976			1	101		3	3	602	N	G_CG_C	1.098398e-05
HLA-C	3107	mdanderson.org	37	6	31239518	31239518	+	Silent	SNP	C	C	T	rs1050420	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr6:31239518C>T	ENST00000376228.5	-	2	215	c.201G>A	c.(199-201)ccG>ccA	p.P67P	HLA-C_ENST00000383329.3_Silent_p.P67P	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	67	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|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						GCTCCCCTCTCGGACTCGCGG	0.701													t|||	2230	0.445288	0.5363	0.513	5008	,	,		12078	0.2808		0.4314	False		,,,				2504	0.4581															0								T		1449,1571		354,741,415	38	40	39		201	-0.2	0	6	dbSNP_86	39	2233,3179		465,1303,938	no	coding-synonymous	HLA-C	NM_002117.5		819,2044,1353	TT,TC,CC		41.2602,47.9801,43.667		67/367	31239518	3682,4750	1510	2706	4216	SO:0001819	synonymous_variant	3107			M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4933	protein-coding gene	gene with protein product		142840	"psoriasis susceptibility 1"	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.201G>A	6.37:g.31239518C>T			O02864|O02958|Q29643|Q9MY30	Silent	SNP	ENST00000376228.5	37	CCDS34393.1	910	0.4166666666666667	245	0.49796747967479676	195	0.5386740331491713	155	0.270979020979021	315	0.4155672823218997	-	6.921	0.539543	0.13250	0.479801	0.412602	ENSG00000204525	ENST00000415537	.	.	.	2.81	-0.177	0.13307	.	.	.	.	.	T	0.11793	0.0287	.	.	.	0.51233	P	8.699999999994823E-5	.	.	.	.	.	.	T	0.24476	-1.0159	3	.	.	.	.	3.289	0.06942	0.0:0.5067:0.2214:0.2719	rs1050420;rs2308551;rs3173347;rs16868214;rs17849592	.	.	.	K	67	.	.	E	-	1	0	HLA-C	31347497	0.000000	0.05858	0.001000	0.08648	0.023000	0.10783	-0.011000	0.12721	-0.051000	0.13334	-0.679000	0.03777	GAG		0.701	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076281.3	NM_002117		T	31239518	C	T	31239518	2	4	739	1	0	0	0	0	0	0	0	1	7199	871	31	1		1	HLA-C	6	31239518	Silent	SNP	C	TCGA-KN-8433-01A-11D-2310-10	576	31239518	139875549	66	42977			1	101		3	3	602	N	G_CG_C	1.098398e-05
HLA-C	3107	mdanderson.org	37	6	31239543	31239544	+	Missense_Mutation	DNP	CG	CG	TT	rs1050428|rs281860356	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	CG	CG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr6:31239543_31239544CG>TT	ENST00000376228.5	-	2	189_190	c.175_176CG>AA	c.(175-177)CGg>AAg	p.R59K	HLA-C_ENST00000383329.3_Missense_Mutation_p.R59K	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	59	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|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						GCTGTCGAACCGCACGAACTGC	0.678																																																0																																										SO:0001583	missense	3107			M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4933	protein-coding gene	gene with protein product		142840	"psoriasis susceptibility 1"	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.175_176delinsTT	6.37:g.31239543_31239544delinsTT	ENSP00000365402:p.Arg59Lys		O02864|O02958|Q29643|Q9MY30	Silent	DNP	ENST00000376228.5	37	CCDS34393.1																																																																																				0.678	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076281.3	NM_002117		TT	31239544	CG	TT	31239543	3	4	739	1	0	0	0	0	1	0	0	0	7199	652	23	1	952	1	HLA-C	6	31239543	Missense_Mutation	DNP	CG	TCGA-KN-8433-01A-11D-2310-10	25	31239543	139875524	67	42978			1	101		3	3	602	N	G_CG_C	1.098398e-05
RUNX2	860	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	6	45405707	45405707	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr6:45405707A>G	ENST00000371438.1	+	4	962	c.604A>G	c.(604-606)Acc>Gcc	p.T202A	RUNX2_ENST00000371436.6_Missense_Mutation_p.T202A|RUNX2_ENST00000352853.5_Missense_Mutation_p.T270A|RUNX2_ENST00000371432.3_Missense_Mutation_p.T188A|RUNX2_ENST00000541979.1_Missense_Mutation_p.T270A|RUNX2_ENST00000359524.5_Missense_Mutation_p.T188A|RUNX2_ENST00000465038.2_Missense_Mutation_p.T202A|RUNX2_ENST00000576263.1_Missense_Mutation_p.T202A	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	202	Runt. {ECO:0000255|PROSITE- ProRule:PRU00399}.				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						CTTGACCATAACCGTCTTCAC	0.398																																																0			GRCh37	CD053603	RUNX2	D							182	187	185					6																	45405707		2203	4300	6503	SO:0001583	missense	860			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.604A>G	6.37:g.45405707A>G	ENSP00000360493:p.Thr202Ala		O14614|O14615|O95181	Missense_Mutation	SNP	ENST00000371438.1	37	CCDS43467.2	.	.	.	.	.	.	.	.	.	.	A	20.6	4.022536	0.75275	.	.	ENSG00000124813	ENST00000465038;ENST00000352853;ENST00000541979;ENST00000371438;ENST00000371436;ENST00000359524;ENST00000371432	D;D;D;D;D;D;D	0.99436	-5.9;-5.9;-5.9;-5.9;-5.9;-5.9;-5.9	5.4	5.4	0.78164	Acute myeloid leukemia 1 (AML 1)/Runt (2);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99548	0.9838	M	0.87758	2.905	0.80722	D	1	D;D;P	0.64830	0.992;0.994;0.693	D;D;P	0.85130	0.993;0.997;0.662	D	0.98173	1.0453	10	0.87932	D	0	-7.2818	15.7246	0.77743	1.0:0.0:0.0:0.0	.	270;202;188	F6RGB9;Q13950;Q13950-2	.;RUNX2_HUMAN;.	A	202;270;270;202;202;188;188	ENSP00000420707:T202A;ENSP00000319087:T270A;ENSP00000446290:T270A;ENSP00000360493:T202A;ENSP00000360491:T202A;ENSP00000352514:T188A;ENSP00000360486:T188A	ENSP00000319087:T270A	T	+	1	0	RUNX2	45513685	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.283000	0.95860	2.161000	0.67846	0.482000	0.46254	ACC		0.398	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		G	45405707	A	G	45405707	3	3	739	1	0	0	0	0	1	0	0	0	13754	43	2	3	634	3	RUNX2	6	45405707	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	14166164	45405707	125709360	68	42979											
ENPP5	59084	mdanderson.org	37	6	46133228	46133228	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr6:46133228A>G	ENST00000371383.2	-	4	1162	c.902T>C	c.(901-903)gTt>gCt	p.V301A	ENPP5_ENST00000230565.3_Missense_Mutation_p.V301A|ENPP5_ENST00000492313.1_5'UTR					ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)											endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						CCTTTCTGGAACGTCTTCTTT	0.398																																																0													234	199	211					6																	46133228		2203	4300	6503	SO:0001583	missense	59084			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.902T>C	6.37:g.46133228A>G	ENSP00000360436:p.Val301Ala			Missense_Mutation	SNP	ENST00000371383.2	37	CCDS4915.1	.	.	.	.	.	.	.	.	.	.	A	15.29	2.790630	0.50102	.	.	ENSG00000112796	ENST00000371383;ENST00000230565	T;T	0.72615	-0.67;-0.67	5.64	5.64	0.86602	Alkaline-phosphatase-like, core domain (1);	0.166514	0.51477	D	0.000088	T	0.57651	0.2068	M	0.73430	2.235	0.23391	N	0.99777	B;B	0.29955	0.263;0.123	B;B	0.29440	0.102;0.102	T	0.60094	-0.7330	10	0.87932	D	0	-9.7515	12.4049	0.55434	0.8743:0.0:0.0:0.1257	.	301;301	A8K9X7;Q9UJA9	.;ENPP5_HUMAN	A	301	ENSP00000360436:V301A;ENSP00000230565:V301A	ENSP00000230565:V301A	V	-	2	0	ENPP5	46241187	1.000000	0.71417	1.000000	0.80357	0.594000	0.36715	8.334000	0.90028	2.272000	0.75746	0.460000	0.39030	GTT		0.398	ENPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040779.2			G	46133228	A	G	46133228	3	3	739	1	0	0	0	0	1	0	0	0	5135	43	2	3	539	3	ENPP5	6	46133228	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	727521	46133228	124981839	69	42980											
RIMS1	22999	ucsc.edu;mdanderson.org	37	6	72974700	72974700	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr6:72974700A>G	ENST00000521978.1	+	20	3139	c.3139A>G	c.(3139-3141)Aca>Gca	p.T1047A	RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000425662.2_Intron|RIMS1_ENST00000264839.7_Missense_Mutation_p.T1047A|RIMS1_ENST00000348717.5_Intron|RIMS1_ENST00000517960.1_Intron|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000538414.1_Intron|RIMS1_ENST00000491071.2_Intron|RIMS1_ENST00000401910.3_Intron|RIMS1_ENST00000518273.1_Intron|RIMS1_ENST00000517827.1_Intron	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1047					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)				GCACTATAAAACATTACCTCC	0.363																																																0													55	51	53					6																	72974700		1846	4089	5935	SO:0001583	missense	22999			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"Rab3-interacting molecule"	606629	"RAB3 interacting protein 2"	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.3139A>G	6.37:g.72974700A>G	ENSP00000428417:p.Thr1047Ala		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	CCDS47449.1	.	.	.	.	.	.	.	.	.	.	A	14.87	2.665269	0.47677	.	.	ENSG00000079841	ENST00000350827;ENST00000264839;ENST00000521978	T;T	0.13901	2.6;2.55	5.76	5.76	0.90799	.	0.140657	0.31507	N	0.007539	T	0.02418	0.0074	N	0.08118	0	0.80722	D	1	B	0.26902	0.163	B	0.23852	0.049	T	0.21211	-1.0252	10	0.06236	T	0.91	-7.5353	16.0796	0.80995	1.0:0.0:0.0:0.0	.	1047	Q86UR5	RIMS1_HUMAN	A	1047	ENSP00000264839:T1047A;ENSP00000428417:T1047A	ENSP00000264839:T1047A	T	+	1	0	RIMS1	73031421	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	4.575000	0.60908	2.199000	0.70637	0.477000	0.44152	ACA		0.363	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			G	72974700	A	G	72974700	3	3	739	1	0	0	0	0	1	0	0	0	13373	43	2	3	3380	3	RIMS1	6	72974700	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	26841472	72974700	98140367	70	42981											
HSF2	3298	mdanderson.org	37	6	122743949	122743949	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr6:122743949A>G	ENST00000368455.4	+	9	1109	c.917A>G	c.(916-918)gAa>gGa	p.E306G	HSF2_ENST00000452194.1_Missense_Mutation_p.E306G	NM_004506.3	NP_004497.1	Q03933	HSF2_HUMAN	heat shock transcription factor 2	306					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to stress (GO:0006950)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			large_intestine(4)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)		GAGCAGAATGAACCAGCCAGA	0.468																																																0													108	94	99					6																	122743949		2203	4300	6503	SO:0001583	missense	3298			M65217	CCDS5124.1, CCDS47470.1	6q22	2008-08-29			ENSG00000025156	ENSG00000025156			5225	protein-coding gene	gene with protein product		140581				1871106	Standard	NM_004506		Approved		uc003pyu.2	Q03933	OTTHUMG00000016216	ENST00000368455.4:c.917A>G	6.37:g.122743949A>G	ENSP00000357440:p.Glu306Gly		B4DGJ4|Q0VAH9|Q2M1K4|Q9H445	Missense_Mutation	SNP	ENST00000368455.4	37	CCDS5124.1	.	.	.	.	.	.	.	.	.	.	A	12.65	2.002753	0.35320	.	.	ENSG00000025156	ENST00000368455;ENST00000452194	.	.	.	4.98	3.82	0.43975	Vertebrate heat shock transcription factor (1);	0.563006	0.18859	N	0.129191	T	0.33000	0.0848	L	0.47716	1.5	0.38855	D	0.956352	B;B	0.27068	0.167;0.109	B;B	0.30943	0.085;0.122	T	0.15521	-1.0434	9	0.33940	T	0.23	-6.8951	9.5176	0.39115	0.9198:0.0:0.0802:0.0	.	306;306	Q03933-2;Q03933	.;HSF2_HUMAN	G	306	.	ENSP00000357440:E306G	E	+	2	0	HSF2	122785648	0.998000	0.40836	0.967000	0.41034	0.855000	0.48748	2.539000	0.45718	1.031000	0.39867	0.533000	0.62120	GAA		0.468	HSF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043520.1	NM_004506		G	122743949	A	G	122743949	3	3	739	1	0	0	0	0	1	0	0	0	7398	246	9	3	951	3	HSF2	6	122743949	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	49769249	122743949	48371118	71	42982											
LPA	4018	mdanderson.org	37	6	160952770	160952770	+	Silent	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr6:160952770T>C	ENST00000316300.5	-	39	6158	c.6114A>G	c.(6112-6114)agA>agG	p.R2038R	LPA_ENST00000447678.1_Silent_p.R2038R			P08519	APOA_HUMAN	lipoprotein, Lp(a)	4546	Kringle 18. {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)	ATTAATTATTTCTCATCATTC	0.438																																																0													144	132	136					6																	160952770		2203	4300	6503	SO:0001819	synonymous_variant	4018			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.6114A>G	6.37:g.160952770T>C			Q5VTD7|Q9UD88	Silent	SNP	ENST00000316300.5	37	CCDS43523.1																																																																																				0.438	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		C	160952770	T	C	160952770	2	2	739	1	0	0	0	0	0	0	0	1	8905	1780	62	3		3	LPA	6	160952770	Silent	SNP	T	TCGA-KN-8433-01A-11D-2310-10	38208821	160952770	10162297	72	42983											
UNC93A	54346	mdanderson.org	37	6	167728774	167728774	+	Missense_Mutation	SNP	T	T	C	rs663606|rs71545154	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr6:167728774T>C	ENST00000230256.3	+	8	1383	c.1208T>C	c.(1207-1209)aTg>aCg	p.M403T	UNC93A_ENST00000366829.2_Missense_Mutation_p.M361T	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	403			M -> I (in dbSNP:rs9459921).|M -> T (in dbSNP:rs663606). {ECO:0000269|PubMed:12381271}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		GGGTACAGCATGTTTTTGTGC	0.577													C|||	3911	0.78095	0.9599	0.5865	5008	,	,		16443	0.8085		0.6252	False		,,,				2504	0.8088															0													85	139	121					6																	167728774		2203	4293	6496	SO:0001583	missense	54346			AJ508812	CCDS5300.1, CCDS47515.1	6q27	2014-05-16	2001-11-28		ENSG00000112494	ENSG00000112494			12570	protein-coding gene	gene with protein product		607995	"unc93 (C.elegans) homolog A"			12381271	Standard	NM_001143947		Approved	dJ366N23.2, dJ366N23.1	uc003qvq.3	Q86WB7	OTTHUMG00000016021	ENST00000230256.3:c.1208T>C	6.37:g.167728774T>C	ENSP00000230256:p.Met403Thr		B3KRP5|Q4QQJ4|Q5JZD6	Missense_Mutation	SNP	ENST00000230256.3	37	CCDS5300.1	1388	0.6355311355311355	393	0.7987804878048781	189	0.5220994475138122	411	0.7185314685314685	395	0.521108179419525	C	0	-2.720806	0.00092	.	.	ENSG00000112494	ENST00000230256;ENST00000366829	T;T	0.79940	-1.32;-1.32	3.86	2.97	0.34412	Major facilitator superfamily domain, general substrate transporter (1);	0.177325	0.48286	N	0.000189	T	0.13756	0.0333	N	0.00026	-2.67	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.12167	-1.0558	9	0.08837	T	0.75	-2.8542	9.2044	0.37280	0.0:0.814:0.0:0.186	rs663606;rs7759897;rs58365775	361;403	Q4QQJ4;Q86WB7	.;UN93A_HUMAN	T	403;361	ENSP00000230256:M403T;ENSP00000355794:M361T	ENSP00000230256:M403T	M	+	2	0	UNC93A	167648764	0.266000	0.24112	0.055000	0.19348	0.010000	0.07245	0.526000	0.22971	0.255000	0.21593	-0.355000	0.07637	ATG		0.577	UNC93A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043125.2	NM_018974		C	167728774	T	C	167728774	3	2	739	1	0	0	0	0	1	0	0	0	17001	1464	51	3	1238	3	UNC93A	6	167728774	Missense_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10	6776004	167728774	3386293	73	42984											
MICALL2	79778	mdanderson.org	37	7	1498910	1498910	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr7:1498910T>C	ENST00000297508.7	-	1	228	c.53A>G	c.(52-54)tAc>tGc	p.Y18C	AC102953.4_ENST00000445345.1_RNA|MICALL2_ENST00000405088.4_Missense_Mutation_p.Y18C	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	18	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.|Forms an intramolecular interaction with the C-terminal coiled coil domain keeping the protein in a closed conformation. {ECO:0000250}.				actin cytoskeleton reorganization (GO:0031532)|actin filament polymerization (GO:0030041)|endocytic recycling (GO:0032456)|neuron projection development (GO:0031175)|substrate adhesion-dependent cell spreading (GO:0034446)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin filament binding (GO:0051015)|filamin binding (GO:0031005)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		CACGTCGCGGTAGCCCTCGCA	0.692																																																0													62	54	57					7																	1498910		2198	4300	6498	SO:0001583	missense	79778			BC037988	CCDS5324.1	7p22.3	2006-11-24			ENSG00000164877	ENSG00000164877			29672	protein-coding gene	gene with protein product	"junctional Rab13-binding protein"					12110185, 16525024	Standard	NM_182924		Approved	MGC46023, FLJ23471, MICAL-L2, JRAB	uc003skj.4	Q8IY33	OTTHUMG00000119021	ENST00000297508.7:c.53A>G	7.37:g.1498910T>C	ENSP00000297508:p.Tyr18Cys		D3YTD2|Q7RTP4|Q7Z655|Q8TEQ4|Q9H5F9	Missense_Mutation	SNP	ENST00000297508.7	37	CCDS5324.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.712639	0.89112	.	.	ENSG00000164877	ENST00000405088;ENST00000297508	T;D	0.95377	0.47;-3.69	3.76	3.76	0.43208	Calponin homology domain (5);	.	.	.	.	D	0.98651	0.9548	H	0.99357	4.53	0.36009	D	0.837893	D	0.89917	1.0	D	0.97110	1.0	D	0.99947	1.1482	9	0.87932	D	0	.	12.1034	0.53798	0.0:0.0:0.0:1.0	.	18	Q8IY33	MILK2_HUMAN	C	18	ENSP00000385928:Y18C;ENSP00000297508:Y18C	ENSP00000297508:Y18C	Y	-	2	0	MICALL2	1465436	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	5.802000	0.69122	1.339000	0.45563	0.260000	0.18958	TAC		0.692	MICALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239223.2	NM_182924		C	1498910	T	C	1498910	3	2	739	1	0	0	0	0	1	0	0	0	9576	1638	57	3	2729	3	MICALL2	7	1498910	Missense_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10		1498910	157639753	74	42985											
STK31	56164	mdanderson.org	37	7	23792342	23792342	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr7:23792342A>G	ENST00000355870.3	+	9	1143	c.1024A>G	c.(1024-1026)Aag>Gag	p.K342E	STK31_ENST00000428484.1_Missense_Mutation_p.K319E|STK31_ENST00000354639.3_Missense_Mutation_p.K319E|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.K342E	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	342						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						TCAGCAAGAGAAGGCAGCTGC	0.378																																																0													90	87	88					7																	23792342		2203	4300	6503	SO:0001583	missense	56164			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.1024A>G	7.37:g.23792342A>G	ENSP00000348132:p.Lys342Glu		B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	ENST00000355870.3	37	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	A	17.45	3.392194	0.62066	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	T;T;T;T	0.20598	2.06;2.06;2.06;2.06	4.94	4.94	0.65067	.	0.119862	0.56097	D	0.000027	T	0.42653	0.1212	M	0.66939	2.045	0.39708	D	0.971297	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.43972	-0.9358	10	0.87932	D	0	-18.8545	11.259	0.49071	1.0:0.0:0.0:0.0	.	342;342	B4DZ06;Q9BXU1	.;STK31_HUMAN	E	342;342;319;319	ENSP00000348132:K342E;ENSP00000411852:K342E;ENSP00000346660:K319E;ENSP00000406146:K319E	ENSP00000346660:K319E	K	+	1	0	STK31	23758867	1.000000	0.71417	1.000000	0.80357	0.604000	0.37047	4.759000	0.62227	1.983000	0.57843	0.482000	0.46254	AAG		0.378	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		G	23792342	A	G	23792342	3	3	739	1	0	0	0	0	1	0	0	0	15301	247	9	3	1058	3	STK31	7	23792342	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	22293432	23792342	135346321	75	42986											
ABCA13	154664	mdanderson.org	37	7	48314279	48314279	+	Silent	SNP	G	G	A	rs6955212	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr7:48314279G>A	ENST00000435803.1	+	17	5040	c.5016G>A	c.(5014-5016)aaG>aaA	p.K1672K		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1672					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						CCCTTAAGAAGGCAGACATAG	0.393													G|||	968	0.193291	0.1498	0.2709	5008	,	,		22975	0.2153		0.1322	False		,,,				2504	0.2372															0								G		585,3223		48,489,1367	153	145	148		5016	2.3	0.3	7	dbSNP_116	148	1164,7050		92,980,3035	no	coding-synonymous	ABCA13	NM_152701.3		140,1469,4402	AA,AG,GG		14.1709,15.3624,14.5483		1672/5059	48314279	1749,10273	1904	4107	6011	SO:0001819	synonymous_variant	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.5016G>A	7.37:g.48314279G>A			K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	CCDS47584.1																																																																																				0.393	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		A	48314279	G	A	48314279	2	1	739	1	0	0	0	0	0	0	0	1	31	991	35	2		2	ABCA13	7	48314279	Silent	SNP	G	TCGA-KN-8433-01A-11D-2310-10	24521937	48314279	110824384	76	42987											
BAZ1B	9031	mdanderson.org	37	7	72891458	72891458	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr7:72891458T>C	ENST00000339594.4	-	7	2671	c.2333A>G	c.(2332-2334)aAg>aGg	p.K778R	BAZ1B_ENST00000404251.1_Missense_Mutation_p.K778R	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	778					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)				AAGCCGTTCCTTCCACAACTC	0.438																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)											0													80	72	75					7																	72891458		2203	4300	6503	SO:0001583	missense	9031			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.2333A>G	7.37:g.72891458T>C	ENSP00000342434:p.Lys778Arg		B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation	SNP	ENST00000339594.4	37	CCDS5549.1	.	.	.	.	.	.	.	.	.	.	T	19.75	3.885335	0.72410	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	T;T	0.64085	-0.08;-0.08	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.73179	0.3554	L	0.52759	1.655	0.53688	D	0.999978	D	0.69078	0.997	D	0.75020	0.985	T	0.70490	-0.4857	10	0.30854	T	0.27	-32.4356	15.3014	0.73955	0.0:0.0:0.0:1.0	.	778	Q9UIG0	BAZ1B_HUMAN	R	778	ENSP00000342434:K778R;ENSP00000385442:K778R	ENSP00000342434:K778R	K	-	2	0	BAZ1B	72529394	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.866000	0.69590	2.219000	0.72066	0.459000	0.35465	AAG		0.438	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408		C	72891458	T	C	72891458	3	2	739	1	0	0	0	0	1	0	0	0	1330	1609	56	3	2170	3	BAZ1B	7	72891458	Missense_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10	24577179	72891458	86247205	77	42988											
BAZ1B	9031	mdanderson.org	37	7	72892254	72892254	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr7:72892254G>A	ENST00000339594.4	-	7	1875	c.1537C>T	c.(1537-1539)Cgt>Tgt	p.R513C	BAZ1B_ENST00000404251.1_Missense_Mutation_p.R513C	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	513	Lys-rich.				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)				TCTGGGAGACGAGCTCTATCT	0.438																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)											0													101	104	103					7																	72892254		2203	4300	6503	SO:0001583	missense	9031			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.1537C>T	7.37:g.72892254G>A	ENSP00000342434:p.Arg513Cys		B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation	SNP	ENST00000339594.4	37	CCDS5549.1	.	.	.	.	.	.	.	.	.	.	G	18.28	3.589356	0.66105	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	T;T	0.58358	0.34;0.34	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.61961	0.2389	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.63849	-0.6544	10	0.66056	D	0.02	-16.7136	13.388	0.60807	0.0:0.0:0.8428:0.1572	.	513	Q9UIG0	BAZ1B_HUMAN	C	513	ENSP00000342434:R513C;ENSP00000385442:R513C	ENSP00000342434:R513C	R	-	1	0	BAZ1B	72530190	1.000000	0.71417	0.955000	0.39395	0.999000	0.98932	5.906000	0.69900	2.593000	0.87608	0.655000	0.94253	CGT		0.438	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408		A	72892254	G	A	72892254	3	1	739	1	0	0	0	0	1	0	0	0	1330	1058	37	1	2966	1	BAZ1B	7	72892254	Missense_Mutation	SNP	G	TCGA-KN-8433-01A-11D-2310-10	796	72892254	86246409	78	42989											
CLDN3	1365	broad.mit.edu;mdanderson.org	37	7	73184305	73184305	+	Silent	SNP	C	C	T			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr7:73184305C>T	ENST00000395145.2	-	1	295	c.75G>A	c.(73-75)gcG>gcA	p.A25A		NM_001306.3	NP_001297.1	O15551	CLD3_HUMAN	claudin 3	25					calcium-independent cell-cell adhesion (GO:0016338)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)|transmembrane signaling receptor activity (GO:0004888)			kidney(1)|lung(1)	2		Lung NSC(55;0.159)				ACATGGGCAACGCGCAGCACA	0.672																																																0													45	38	40					7																	73184305		2203	4299	6502	SO:0001819	synonymous_variant	1365			AF007189	CCDS5559.1	7q11	2008-07-18			ENSG00000165215	ENSG00000165215		"Claudins"	2045	protein-coding gene	gene with protein product	"Clostridium perfringens enterotoxin receptor 2", "ventral prostate.1-like protein", "claudin-3", "CPE-receptor 2"	602910		C7orf1, CPETR2		9441748, 9892664	Standard	NM_001306		Approved	RVP1, CPE-R2, HRVP1	uc003tzg.4	O15551	OTTHUMG00000023424	ENST00000395145.2:c.75G>A	7.37:g.73184305C>T				Silent	SNP	ENST00000395145.2	37	CCDS5559.1																																																																																				0.672	CLDN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252310.1	NM_001306		T	73184305	C	T	73184305	2	4	739	1	0	0	0	0	0	0	0	1	3488	523	19	1		1	CLDN3	7	73184305	Silent	SNP	C	TCGA-KN-8433-01A-11D-2310-10	292051	73184305	85954358	79	42990											
C7orf63	79846	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	7	89937126	89937126	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr7:89937126G>T	ENST00000389297.4	+	21	2759	c.2508G>T	c.(2506-2508)tgG>tgT	p.W836C	C7orf63_ENST00000316089.8_Missense_Mutation_p.W790C|C7orf63_ENST00000497910.1_Missense_Mutation_p.W818C	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		836										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						ATAAATCATGGGAAGATTTCT	0.328																																																0													65	64	65					7																	89937126		1840	4099	5939	SO:0001583	missense	79846																														ENST00000389297.4:c.2508G>T	7.37:g.89937126G>T	ENSP00000373948:p.Trp836Cys		A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Missense_Mutation	SNP	ENST00000389297.4	37	CCDS43613.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.29|18.29	3.590328|3.590328	0.66105|0.66105	.|.	.|.	ENSG00000105792|ENSG00000105792	ENST00000412839;ENST00000445156|ENST00000389297;ENST00000316089;ENST00000497910;ENST00000449577	.|T;T;T;T	.|0.25912	.|2.37;2.32;2.37;1.77	5.17|5.17	5.17|5.17	0.71159|0.71159	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.54255	.|0.1847	M|M	0.77103|0.77103	2.36|2.36	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|0.999;1.0	.|D;D	.|0.91635	.|0.989;0.999	.|T	.|0.59643	.|-0.7416	.|10	.|0.87932	.|D	.|0	-4.9045|-4.9045	17.6621|17.6621	0.88195|0.88195	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|818;836	.|A5D8W1-5;A5D8W1	.|.;CG063_HUMAN	X|C	65;23|836;790;818;373	.|ENSP00000373948:W836C;ENSP00000321753:W790C;ENSP00000419549:W818C;ENSP00000391571:W373C	.|ENSP00000321753:W790C	G|W	+|+	1|3	0|0	C7orf63|C7orf63	89775062|89775062	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.938000|0.938000	0.57974|0.57974	7.025000|7.025000	0.76449|0.76449	2.407000|2.407000	0.81776|0.81776	0.650000|0.650000	0.86243|0.86243	GGA|TGG		0.328	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139891.4			T	89937126	G	T	89937126	3	4	739	1	0	0	0	0	1	0	0	0	2411	1241	43	4	2590	4	C7orf63	7	89937126	Missense_Mutation	SNP	G	TCGA-KN-8433-01A-11D-2310-10	16752821	89937126	69201537	80	42991											
CCDC132	55610	mdanderson.org	37	7	92905518	92905518	+	Silent	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr7:92905518T>C	ENST00000305866.5	+	12	971	c.843T>C	c.(841-843)atT>atC	p.I281I	CCDC132_ENST00000544910.1_Silent_p.I251I|CCDC132_ENST00000535481.1_Intron|CCDC132_ENST00000541136.1_Silent_p.I92I|CCDC132_ENST00000317751.6_Silent_p.I12I|CCDC132_ENST00000251739.5_Silent_p.I281I	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	281						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			CCCAAGCCATTCACAACACCG	0.353																																																0													210	186	194					7																	92905518		2203	4300	6503	SO:0001819	synonymous_variant	55610			AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.843T>C	7.37:g.92905518T>C			B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Silent	SNP	ENST00000305866.5	37	CCDS43617.1	.	.	.	.	.	.	.	.	.	.	T	10.68	1.418400	0.25552	.	.	ENSG00000004766	ENST00000458707	.	.	.	5.3	1.2	0.21068	.	.	.	.	.	T	0.55577	0.1929	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48139	-0.9061	4	.	.	.	-23.125	8.3177	0.32111	0.0:0.4108:0.0:0.5892	.	.	.	.	S	68	.	.	F	+	2	0	CCDC132	92743454	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.819000	0.39022	0.398000	0.25338	-0.297000	0.09499	TTC		0.353	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667		C	92905518	T	C	92905518	2	2	739	1	0	0	0	0	0	0	0	1	2769	1771	62	3		3	CCDC132	7	92905518	Silent	SNP	T	TCGA-KN-8433-01A-11D-2310-10	2968392	92905518	66233145	81	42992											
SLC25A13	10165	mdanderson.org	37	7	95813628	95813628	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr7:95813628T>C	ENST00000265631.5	-	11	1274	c.1138A>G	c.(1138-1140)Aaa>Gaa	p.K380E	SLC25A13_ENST00000416240.2_Missense_Mutation_p.K381E|SLC25A13_ENST00000542654.1_Missense_Mutation_p.K272E			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	380					aspartate transport (GO:0015810)|ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular respiration (GO:0045333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|transporter activity (GO:0005215)			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	CGTAGCACTTTCTTAAAACAG	0.393																																																0													103	98	100					7																	95813628		2203	4300	6503	SO:0001583	missense	10165			AF118838	CCDS5645.1, CCDS55130.1	7q21.3	2013-05-22	2012-03-29		ENSG00000004864	ENSG00000004864		"Solute carriers", "EF-hand domain containing"	10983	protein-coding gene	gene with protein product	"mitochondrial aspartate glutamate carrier 2"	603859	"solute carrier family 25, member 13 (citrin)"	CTLN2		10369257	Standard	NM_014251		Approved	CITRIN, ARALAR2	uc003uog.4	Q9UJS0	OTTHUMG00000023074	ENST00000265631.5:c.1138A>G	7.37:g.95813628T>C	ENSP00000265631:p.Lys380Glu		O14566|O14575|Q546F9|Q9NZW1|Q9UNI7	Missense_Mutation	SNP	ENST00000265631.5	37	CCDS5645.1	.	.	.	.	.	.	.	.	.	.	T	28.7	4.945440	0.92593	.	.	ENSG00000004864	ENST00000265631;ENST00000416240;ENST00000542654	T;T;T	0.79845	-1.31;-1.31;-1.31	4.86	4.86	0.63082	Mitochondrial carrier domain (2);	0.110120	0.64402	D	0.000016	D	0.86543	0.5958	L	0.49778	1.585	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.79108	0.987;0.992;0.992	D	0.88017	0.2766	10	0.87932	D	0	-16.5103	14.9278	0.70893	0.0:0.0:0.0:1.0	.	272;381;380	F5GX33;Q546F9;Q9UJS0	.;.;CMC2_HUMAN	E	380;381;272	ENSP00000265631:K380E;ENSP00000400101:K381E;ENSP00000440484:K272E	ENSP00000265631:K380E	K	-	1	0	SLC25A13	95651564	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.868000	0.87116	2.172000	0.68678	0.533000	0.62120	AAA		0.393	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059395.2	NM_014251		C	95813628	T	C	95813628	3	2	739	1	0	0	0	0	1	0	0	0	14481	1792	62	3	921	3	SLC25A13	7	95813628	Missense_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10	2908110	95813628	63325035	82	42993											
STAG3	10734	mdanderson.org	37	7	99783860	99783860	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr7:99783860A>G	ENST00000426455.1	+	5	781	c.374A>G	c.(373-375)gAc>gGc	p.D125G	STAG3_ENST00000317296.5_Missense_Mutation_p.D125G|STAG3_ENST00000394018.2_Intron	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	125					chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TACAAGCAAGACCAGGATGCA	0.408																																																0													197	197	197					7																	99783860		2203	4300	6503	SO:0001583	missense	10734			AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.374A>G	7.37:g.99783860A>G	ENSP00000400359:p.Asp125Gly		A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Missense_Mutation	SNP	ENST00000426455.1	37	CCDS34703.1	.	.	.	.	.	.	.	.	.	.	.	19.08	3.757822	0.69648	.	.	ENSG00000066923	ENST00000426455;ENST00000416412;ENST00000339784;ENST00000317296	T;T	0.29397	1.57;1.57	5.65	5.65	0.86999	.	0.242716	0.28766	N	0.014204	T	0.44435	0.1293	M	0.84219	2.685	0.42783	D	0.993871	B	0.26809	0.16	B	0.35114	0.196	T	0.48647	-0.9017	10	0.72032	D	0.01	-8.7402	13.8254	0.63348	1.0:0.0:0.0:0.0	.	125	Q9UJ98	STAG3_HUMAN	G	125	ENSP00000400359:D125G;ENSP00000319318:D125G	ENSP00000319318:D125G	D	+	2	0	STAG3	99621796	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.284000	0.78650	2.149000	0.67028	0.454000	0.30748	GAC		0.408	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2	NM_012447		G	99783860	A	G	99783860	3	3	739	1	0	0	0	0	1	0	0	0	15249	275	10	3	388	3	STAG3	7	99783860	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	3970232	99783860	59354803	83	42994											
UBN2	254048	mdanderson.org	37	7	138960858	138960858	+	Silent	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr7:138960858A>G	ENST00000473989.3	+	12	1989	c.1989A>G	c.(1987-1989)gaA>gaG	p.E663E	UBN2_ENST00000288561.8_Silent_p.E580E	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	663						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						TTTTTAAGGAAAGCCGGAGTG	0.279																																																0													84	78	80					7																	138960858		1810	4069	5879	SO:0001819	synonymous_variant	254048			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.1989A>G	7.37:g.138960858A>G			A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Silent	SNP	ENST00000473989.3	37	CCDS43655.2	.	.	.	.	.	.	.	.	.	.	A	9.378	1.072307	0.20147	.	.	ENSG00000157741	ENST00000483726	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	T	0.62938	0.2469	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62324	-0.6878	4	.	.	.	-19.1931	10.4303	0.44403	0.9274:0.0:0.0726:0.0	.	.	.	.	R	432	.	.	K	+	2	0	UBN2	138611398	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.712000	0.37940	2.196000	0.70406	0.528000	0.53228	AAA		0.279	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	NM_173569		G	138960858	A	G	138960858	2	3	739	1	0	0	0	0	0	0	0	1	16898	11	1	3		3	UBN2	7	138960858	Silent	SNP	A	TCGA-KN-8433-01A-11D-2310-10	39176998	138960858	20177805	84	42995											
TAS2R4	50832	mdanderson.org	37	7	141478814	141478814	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr7:141478814T>C	ENST00000247881.2	+	1	573	c.526T>C	c.(526-528)Tct>Cct	p.S176P	SSBP1_ENST00000465582.1_Intron	NM_016944.1	NP_058640.1	Q9NYW5	TA2R4_HUMAN	taste receptor, type 2, member 4	176					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)		GGGCATCTTGTCTTTAGTGGT	0.418																																																0													255	250	252					7																	141478814		2203	4300	6503	SO:0001583	missense	50832			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.526T>C	7.37:g.141478814T>C	ENSP00000247881:p.Ser176Pro		Q645W5|Q75MV8	Missense_Mutation	SNP	ENST00000247881.2	37	CCDS5868.1	.	.	.	.	.	.	.	.	.	.	t	4.845	0.157147	0.09236	.	.	ENSG00000127364	ENST00000247881	T	0.37584	1.19	5.31	-2.53	0.06326	.	0.838765	0.10689	N	0.645469	T	0.31544	0.0800	M	0.64997	1.995	0.09310	N	1	B	0.18013	0.025	B	0.28139	0.086	T	0.45056	-0.9287	10	0.62326	D	0.03	.	4.0257	0.09687	0.2579:0.3855:0.0:0.3567	.	176	Q9NYW5	TA2R4_HUMAN	P	176	ENSP00000247881:S176P	ENSP00000247881:S176P	S	+	1	0	TAS2R4	141125283	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-0.350000	0.07721	-0.263000	0.09378	-0.282000	0.10007	TCT		0.418	TAS2R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349285.1			C	141478814	T	C	141478814	3	2	739	1	0	0	0	0	1	0	0	0	15582	1667	58	3	528	3	TAS2R4	7	141478814	Missense_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10	2517956	141478814	17659849	85	42996											
PRSS1	5644	mdanderson.org	37	7	142458526	142458526	+	Missense_Mutation	SNP	A	A	G	rs144422014		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr7:142458526A>G	ENST00000311737.7	+	2	167	c.161A>G	c.(160-162)aAc>aGc	p.N54S	PRSS1_ENST00000486171.1_Missense_Mutation_p.N54S	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	54	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		N -> S (in PCTT; associated with Ile-29; the double mutant shows increased autocatalytic activation which is solely due to the Ile-29 mutation). {ECO:0000269|PubMed:15776435}.		cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	TCCCTCATCAACGAACAGTGG	0.572																																																0													88	91	90					7																	142458526		2203	4300	6503	SO:0001583	missense	5644			M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"Serine peptidases / Serine peptidases"	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.161A>G	7.37:g.142458526A>G	ENSP00000308720:p.Asn54Ser		A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Missense_Mutation	SNP	ENST00000311737.7	37	CCDS5872.1	.	.	.	.	.	.	.	.	.	.	A	0.009	-1.848646	0.00563	.	.	ENSG00000204983	ENST00000486171;ENST00000311737;ENST00000529243;ENST00000492062	D;D;T	0.91577	-2.87;-2.87;-1.25	3.49	-6.32	0.01995	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.304664	0.39083	N	0.001478	T	0.62938	0.2469	N	0.00765	-1.205	0.09310	A	6.371e-07	B	0.02656	0.0	B	0.04013	0.001	T	0.62258	-0.6892	9	0.16896	T	0.51	.	6.9591	0.24587	0.4768:0.1255:0.3977:0.0	.	54	P07477	TRY1_HUMAN	S	54;54;54;4	ENSP00000417854:N54S;ENSP00000308720:N54S;ENSP00000419912:N4S	ENSP00000308720:N54S	N	+	2	0	PRSS1	142138100	0.000000	0.05858	0.248000	0.24265	0.005000	0.04900	-1.543000	0.02194	-1.143000	0.02866	-0.874000	0.02982	AAC		0.572	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2			G	142458526	A	G	142458526	3	3	739	1	0	0	0	0	1	0	0	0	12619	43	2	3	167	3	PRSS1	7	142458526	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	979712	142458526	16680137	86	42997											
OR2A2	442361	mdanderson.org	37	7	143806681	143806681	+	Silent	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr7:143806681A>G	ENST00000408979.2	+	1	75	c.6A>G	c.(4-6)gaA>gaG	p.E2E		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	2						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)					AGAGCATGGAAGGCAACCAGA	0.502																																																0													103	100	101					7																	143806681		2004	4187	6191	SO:0001819	synonymous_variant	442361				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.6A>G	7.37:g.143806681A>G			B2RN85|Q8NGT6	Silent	SNP	ENST00000408979.2	37	CCDS43671.1																																																																																				0.502	OR2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349978.1			G	143806681	A	G	143806681	2	3	739	1	0	0	0	0	0	0	0	1	10979	69	3	3		3	OR2A2	7	143806681	Silent	SNP	A	TCGA-KN-8433-01A-11D-2310-10	1348155	143806681	15331982	87	42998											
CNOT7	29883	mdanderson.org	37	8	17088229	17088229	+	Nonstop_Mutation	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr8:17088229T>C	ENST00000361272.4	-	7	1156	c.858A>G	c.(856-858)tgA>tgG	p.*286W		NM_013354.5	NP_037486.2	Q9UIV1	CNOT7_HUMAN	CCR4-NOT transcription complex, subunit 7	0					carbohydrate metabolic process (GO:0005975)|cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of cell proliferation (GO:0008285)|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 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 transcription from RNA polymerase II promoter (GO:0045944)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|signal transduction (GO:0007165)|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)	3'-5'-exoribonuclease activity (GO:0000175)|exoribonuclease activity (GO:0004532)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)	11				Colorectal(111;0.0523)|COAD - Colon adenocarcinoma(73;0.209)		CTATTTCATGTCATGACTGCT	0.398																																																0													109	102	104					8																	17088229		2203	4300	6503	SO:0001578	stop_lost	29883			L46722	CCDS6000.2, CCDS55202.1	8p22-p21.3	2008-08-07			ENSG00000198791	ENSG00000198791			14101	protein-coding gene	gene with protein product	"BTG1 binding factor 1"	604913		CAF1		10637334, 1538749, 17264152	Standard	XM_005273481		Approved		uc003wxg.1	Q9UIV1	OTTHUMG00000096971	ENST00000361272.4:c.858A>G	8.37:g.17088229T>C	ENSP00000355279:p.*286Cysext*57		A8MZM5|B3KMP1|B3KN35|D3DSP6|G3V108|Q7Z530	Missense_Mutation	SNP	ENST00000361272.4	37	CCDS6000.2	.	.	.	.	.	.	.	.	.	.	T	14.89	2.670954	0.47781	.	.	ENSG00000198791	ENST00000361272	.	.	.	5.0	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4096	0.74908	0.0:0.0:0.0:1.0	.	.	.	.	W	286	.	.	X	-	3	0	CNOT7	17132600	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.694000	0.84235	2.180000	0.69256	0.533000	0.62120	TGA		0.398	CNOT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214038.1	NM_013354		C	17088229	T	C	17088229	4	2	739	1	0	0	0	0	0	0	0	0	3626	1680	58	3	3	3	CNOT7	8	17088229	Nonstop_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10		17088229	129275793	88	42999											
ST18	9705	mdanderson.org	37	8	53025806	53025806	+	Silent	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr8:53025806T>C	ENST00000276480.7	-	26	3779	c.3096A>G	c.(3094-3096)aaA>aaG	p.K1032K		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	1032					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)				CCAGTAGAGCTTTGCATTCCG	0.453																																																0													173	150	158					8																	53025806		2203	4300	6503	SO:0001819	synonymous_variant	9705			AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"Zinc fingers, C2HC-type containing"	18695	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 3"		"zinc finger protein 387", "suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.3096A>G	8.37:g.53025806T>C			Q17RY1	Silent	SNP	ENST00000276480.7	37	CCDS6149.1																																																																																				0.453	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			C	53025806	T	C	53025806	2	2	739	1	0	0	0	0	0	0	0	1	15217	1606	56	3		3	ST18	8	53025806	Silent	SNP	T	TCGA-KN-8433-01A-11D-2310-10	35937577	53025806	93338216	89	43000											
WWP1	11059	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	8	87410805	87410805	+	Missense_Mutation	SNP	A	A	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr8:87410805A>C	ENST00000517970.1	+	7	784	c.477A>C	c.(475-477)gaA>gaC	p.E159D	WWP1_ENST00000265428.4_Missense_Mutation_p.E159D|WWP1_ENST00000349423.2_Intron|WWP1_ENST00000341922.2_Intron	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	159					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						GTTCAGTAGAAATACAGGAAA	0.333																																																0													96	97	97					8																	87410805		2203	4300	6503	SO:0001583	missense	11059			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.477A>C	8.37:g.87410805A>C	ENSP00000427793:p.Glu159Asp		O00307|Q5YLC1|Q96BP4	Missense_Mutation	SNP	ENST00000517970.1	37	CCDS6242.1	.	.	.	.	.	.	.	.	.	.	A	13.08	2.129792	0.37630	.	.	ENSG00000123124	ENST00000517970;ENST00000265428	T;T	0.45276	0.9;0.9	5.3	5.3	0.74995	.	0.714266	0.13795	N	0.362248	T	0.37598	0.1009	L	0.44542	1.39	0.80722	D	1	B	0.13594	0.008	B	0.17433	0.018	T	0.13335	-1.0513	10	0.17369	T	0.5	.	15.5221	0.75874	1.0:0.0:0.0:0.0	.	159	Q9H0M0	WWP1_HUMAN	D	159	ENSP00000427793:E159D;ENSP00000265428:E159D	ENSP00000265428:E159D	E	+	3	2	WWP1	87479921	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.689000	0.74562	2.127000	0.65507	0.477000	0.44152	GAA		0.333	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374755.1	NM_007013		C	87410805	A	C	87410805	3	2	739	1	0	0	0	0	1	0	0	0	17420	11	1	5	495	5	WWP1	8	87410805	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	34384999	87410805	58953217	90	43001											
CYP11B1	1584	mdanderson.org	37	8	143958291	143958291	+	Silent	SNP	C	C	T	rs61751154		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr8:143958291C>T	ENST00000292427.4	-	4	638	c.606G>A	c.(604-606)ttG>ttA	p.L202L	CYP11B1_ENST00000377675.3_Silent_p.L273L|CYP11B1_ENST00000517471.1_Silent_p.L202L	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	202					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	CAAAAAGAGCCAAGTTGCTGG	0.642									Familial Hyperaldosteronism type I				.|||	1	0.000199681	0.0008	0.0	5008	,	,		19690	0.0		0.0	False		,,,				2504	0.0															0													37	38	38					8																	143958291		2203	4300	6503	SO:0001819	synonymous_variant	1584	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"Cytochrome P450s"	2591	protein-coding gene	gene with protein product	"steroid 11-beta-monooxygenase"	610613	"cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.606G>A	8.37:g.143958291C>T			Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Silent	SNP	ENST00000292427.4	37	CCDS6392.1																																																																																				0.642	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			T	143958291	C	T	143958291	2	4	739	1	0	0	0	0	0	0	0	1	4147	593	21	2		2	CYP11B1	8	143958291	Silent	SNP	C	TCGA-KN-8433-01A-11D-2310-10	56547486	143958291	2405731	91	43002											
SCRIB	23513	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	8	144890886	144890886	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr8:144890886G>A	ENST00000320476.3	-	15	2014	c.2008C>T	c.(2008-2010)Cag>Tag	p.Q670*	SCRIB_ENST00000377533.3_Nonsense_Mutation_p.Q589*|SCRIB_ENST00000356994.2_Nonsense_Mutation_p.Q670*	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	670	Glu-rich.|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)			tcctcctcctgaggactaccc	0.667																																					Pancreas(51;966 1133 10533 14576 29674)											0													89	84	86					8																	144890886		2203	4300	6503	SO:0001587	stop_gained	23513			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.2008C>T	8.37:g.144890886G>A	ENSP00000322938:p.Gln670*		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Nonsense_Mutation	SNP	ENST00000320476.3	37	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	g	36	5.722268	0.96839	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533;ENST00000377539	.	.	.	1.38	-0.764	0.11027	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	.	5.1013	0.14760	0.0:0.2124:0.5761:0.2115	.	.	.	.	X	670;670;589;39	.	ENSP00000322938:Q670X	Q	-	1	0	SCRIB	144962874	0.000000	0.05858	0.085000	0.20634	0.044000	0.14063	-0.134000	0.10436	0.194000	0.20326	0.197000	0.17608	CAG		0.667	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		A	144890886	G	A	144890886	4	1	739	1	0	0	0	0	0	1	0	0	13943	1299	45	2	3051	2	SCRIB	8	144890886	Nonsense_Mutation	SNP	G	TCGA-KN-8433-01A-11D-2310-10	932595	144890886	1473136	92	43003											
FOXD4	2298	broad.mit.edu	37	9	117662	117663	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr9:117662_117663insG	ENST00000382500.2	-	1	754_755	c.457_458insC	c.(457-459)cgcfs	p.R153fs		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	153					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)		GAGGTTGTGGCGGATGCTGTTC	0.658																																																0																																										SO:0001589	frameshift_variant	2298			U13223	CCDS34975.1	9p24.3	2014-09-17			ENSG00000170122	ENSG00000170122		"Forkhead boxes"	3805	protein-coding gene	gene with protein product		601092		FKHL9		7957066, 8825632, 12234674	Standard	NM_207305		Approved	FREAC5, FOXD4a	uc003zfz.4	Q12950	OTTHUMG00000021015	ENST00000382500.2:c.458dupC	9.37:g.117664_117664dupG	ENSP00000371940:p.Arg153fs		B2RN05|B9EGL7|Q5VVK1|Q8WXT6	Frame_Shift_Ins	INS	ENST00000382500.2	37	CCDS34975.1																																																																																				0.658	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055433.1	NM_207305		G	117663	-	G	117662	7	5	739	1	0	1	1	0	0	0	0	0	6001	768	27	0	865	0	FOXD4	9	117662	Frame_Shift_Ins	INS	-	TCGA-KN-8433-01A-11D-2310-10		117662	141095769	93	43004											
AQP7	364	mdanderson.org	37	9	33385690	33385690	+	Missense_Mutation	SNP	G	G	T	rs139024279		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr9:33385690G>T	ENST00000537089.1	-	6	742	c.424C>A	c.(424-426)Cgc>Agc	p.R142S	AQP7_ENST00000541274.1_Missense_Mutation_p.P102Q|AQP7_ENST00000539936.1_Missense_Mutation_p.R234S|AQP7_ENST00000377425.4_Missense_Mutation_p.R177S			O14520	AQP7_HUMAN	aquaporin 7	234					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)	p.R234fs*35(1)		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)		GTGAAGATGCGGGGGGGCAGG	0.577																																																1	Insertion - Frameshift(1)	lung(1)											74	81	78					9																	33385690		2203	4300	6503	SO:0001583	missense	364			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.424C>A	9.37:g.33385690G>T	ENSP00000441619:p.Arg142Ser		Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000537089.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	14.50|14.50	2.553881|2.553881	0.45487|0.45487	.|.	.|.	ENSG00000165269|ENSG00000165269	ENST00000541274|ENST00000537089;ENST00000379507;ENST00000447660;ENST00000297988;ENST00000377425;ENST00000439678;ENST00000379506;ENST00000539936;ENST00000379503	T|T;T;T;T;T;T;T;T;T	0.57273|0.13196	0.41|2.61;2.61;2.61;2.61;2.61;2.61;2.61;2.61;2.61	5.04|5.04	4.07|4.07	0.47477|0.47477	.|Aquaporin-like (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.49474|0.49474	0.1559|0.1559	H|H	0.97315|0.97315	3.98|3.98	0.58432|0.58432	D|D	0.999997|0.999997	P|D;P;P;P	0.39216|0.55800	0.664|0.973;0.872;0.525;0.795	B|D;D;P;P	0.36289|0.67900	0.221|0.954;0.923;0.814;0.878	T|T	0.64550|0.64550	-0.6381|-0.6381	9|10	0.87932|0.66056	D|D	0|0.02	-16.683|-16.683	12.4686|12.4686	0.55773|0.55773	0.0:0.0:0.8227:0.1772|0.0:0.0:0.8227:0.1772	.|.	102|233;234;177;234	B7Z7F6|Q5T5M0;B7Z4U2;Q6P5T0;O14520	.|.;.;.;AQP7_HUMAN	Q|S	102|142;233;102;234;177;142;233;234;170	ENSP00000438860:P102Q|ENSP00000441619:R142S;ENSP00000368821:R233S;ENSP00000412868:R102S;ENSP00000297988:R234S;ENSP00000396111:R177S;ENSP00000410138:R142S;ENSP00000368820:R233S;ENSP00000439534:R234S;ENSP00000368817:R170S	ENSP00000438860:P102Q|ENSP00000297988:R234S	P|R	-|-	2|1	0|0	AQP7|AQP7	33375690|33375690	0.731000|0.731000	0.28111|0.28111	0.404000|0.404000	0.26397|0.26397	0.223000|0.223000	0.24884|0.24884	1.249000|1.249000	0.32839|0.32839	2.621000|2.621000	0.88768|0.88768	0.550000|0.550000	0.68814|0.68814	CCG|CGC		0.577	AQP7-202	KNOWN	basic	protein_coding	protein_coding		NM_001170		T	33385690	G	T	33385690	3	4	739	1	0	0	0	0	1	0	0	0	831	1116	39	4	336	4	AQP7	9	33385690	Missense_Mutation	SNP	G	TCGA-KN-8433-01A-11D-2310-10	33268028	33385690	107827741	94	43005			2	102		5	3	504	N	G_C	7.695331e-06
AQP7	364	mdanderson.org	37	9	33386144	33386144	+	Silent	SNP	G	G	A	rs76209395	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr9:33386144G>A	ENST00000537089.1	-	5	498	c.180C>T	c.(178-180)gtC>gtT	p.V60V	AQP7_ENST00000541274.1_Intron|AQP7_ENST00000539936.1_Silent_p.V152V|AQP7_ENST00000377425.4_Silent_p.V95V			O14520	AQP7_HUMAN	aquaporin 7	152					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)		CAGCTGTAGCGACGGGACCGG	0.582																																																0													86	80	82					9																	33386144		2203	4300	6503	SO:0001819	synonymous_variant	364			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.180C>T	9.37:g.33386144G>A			Q08E94|Q5T5L9|Q8NHM3	Silent	SNP	ENST00000537089.1	37																																																																																					0.582	AQP7-202	KNOWN	basic	protein_coding	protein_coding		NM_001170		A	33386144	G	A	33386144	2	1	739	1	0	0	0	0	0	0	0	1	831	1045	37	1		1	AQP7	9	33386144	Silent	SNP	G	TCGA-KN-8433-01A-11D-2310-10	454	33386144	107827287	95	43006	408	3	2	102		5	3	504	N	G_C	7.695331e-06
AQP7	364	mdanderson.org	37	9	33386146	33386146	+	Missense_Mutation	SNP	C	C	A	rs76608797		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr9:33386146C>A	ENST00000537089.1	-	5	496	c.178G>T	c.(178-180)Gtc>Ttc	p.V60F	AQP7_ENST00000541274.1_Intron|AQP7_ENST00000539936.1_Missense_Mutation_p.V152F|AQP7_ENST00000377425.4_Missense_Mutation_p.V95F			O14520	AQP7_HUMAN	aquaporin 7	152					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)		GCTGTAGCGACGGGACCGGTC	0.582																																																0													86	80	82					9																	33386146		2203	4300	6503	SO:0001583	missense	364			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.178G>T	9.37:g.33386146C>A	ENSP00000441619:p.Val60Phe		Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000537089.1	37		.	.	.	.	.	.	.	.	.	.	-	9.634	1.137210	0.21123	.	.	ENSG00000165269	ENST00000537089;ENST00000379507;ENST00000447660;ENST00000297988;ENST00000377425;ENST00000439678;ENST00000379506;ENST00000539936;ENST00000379503	D;D;D;D;D;D;D;D;D	0.85861	-2.04;-2.04;-2.04;-2.04;-2.04;-2.04;-2.04;-2.04;-2.04	3.98	-1.55	0.08558	Aquaporin-like (2);	1.211120	0.05677	N	0.589625	T	0.69233	0.3088	N	0.16166	0.38	0.09310	N	1	B;B;B;B	0.09022	0.002;0.0;0.0;0.0	B;B;B;B	0.13407	0.003;0.002;0.009;0.002	T	0.52223	-0.8604	10	0.17369	T	0.5	2.1417	4.6196	0.12444	0.0:0.225:0.4403:0.3347	.	151;152;95;152	Q5T5M0;B7Z4U2;Q6P5T0;O14520	.;.;.;AQP7_HUMAN	F	60;151;20;152;95;60;151;152;88	ENSP00000441619:V60F;ENSP00000368821:V151F;ENSP00000412868:V20F;ENSP00000297988:V152F;ENSP00000396111:V95F;ENSP00000410138:V60F;ENSP00000368820:V151F;ENSP00000439534:V152F;ENSP00000368817:V88F	ENSP00000297988:V152F	V	-	1	0	AQP7	33376146	0.000000	0.05858	0.001000	0.08648	0.055000	0.15305	0.006000	0.13152	-0.272000	0.09259	-0.320000	0.08662	GTC		0.582	AQP7-202	KNOWN	basic	protein_coding	protein_coding		NM_001170		A	33386146	C	A	33386146	3	1	739	1	0	0	0	0	1	0	0	0	831	536	19	4	586	4	AQP7	9	33386146	Missense_Mutation	SNP	C	TCGA-KN-8433-01A-11D-2310-10	2	33386146	107827285	96	43007	408	3	2	102		5	3	504	N	G_C	7.695331e-06
AQP7	364	mdanderson.org	37	9	33386152	33386152	+	Missense_Mutation	SNP	C	C	A	rs144445015	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr9:33386152C>A	ENST00000537089.1	-	5	490	c.172G>T	c.(172-174)Ggt>Tgt	p.G58C	AQP7_ENST00000541274.1_Intron|AQP7_ENST00000539936.1_Missense_Mutation_p.G150C|AQP7_ENST00000377425.4_Missense_Mutation_p.G93C			O14520	AQP7_HUMAN	aquaporin 7	150					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)		GCGACGGGACCGGTCACCATC	0.577													-|||	2	0.000399361	0.0	0.0	5008	,	,		18166	0.002		0.0	False		,,,				2504	0.0															0													86	80	82					9																	33386152		2203	4300	6503	SO:0001583	missense	364			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.172G>T	9.37:g.33386152C>A	ENSP00000441619:p.Gly58Cys		Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000537089.1	37		.	.	.	.	.	.	.	.	.	.	-	25.7	4.668622	0.88348	.	.	ENSG00000165269	ENST00000537089;ENST00000379507;ENST00000447660;ENST00000297988;ENST00000377425;ENST00000439678;ENST00000379506;ENST00000539936;ENST00000379503	T;T;T;T;T;T;T;T;T	0.13307	2.6;2.6;2.6;2.6;2.6;2.6;2.6;2.6;2.6	3.98	3.98	0.46160	Aquaporin-like (2);	0.096735	0.64402	D	0.000001	T	0.45498	0.1345	M	0.93678	3.445	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;0.998	T	0.56727	-0.7931	10	0.87932	D	0	-10.2624	11.903	0.52694	0.0:1.0:0.0:0.0	.	149;150;93;150	Q5T5M0;B7Z4U2;Q6P5T0;O14520	.;.;.;AQP7_HUMAN	C	58;149;18;150;93;58;149;150;86	ENSP00000441619:G58C;ENSP00000368821:G149C;ENSP00000412868:G18C;ENSP00000297988:G150C;ENSP00000396111:G93C;ENSP00000410138:G58C;ENSP00000368820:G149C;ENSP00000439534:G150C;ENSP00000368817:G86C	ENSP00000297988:G150C	G	-	1	0	AQP7	33376152	1.000000	0.71417	0.138000	0.22173	0.379000	0.30106	6.942000	0.75928	2.507000	0.84556	0.645000	0.84053	GGT		0.577	AQP7-202	KNOWN	basic	protein_coding	protein_coding		NM_001170		A	33386152	C	A	33386152	3	1	739	1	0	0	0	0	1	0	0	0	831	652	23	4	592	4	AQP7	9	33386152	Missense_Mutation	SNP	C	TCGA-KN-8433-01A-11D-2310-10	6	33386152	107827279	97	43008	408	3	2	102		5	3	504	N	G_C	7.695331e-06
AQP7	364	mdanderson.org	37	9	33386193	33386193	+	Splice_Site	SNP	G	G	A	rs199840488		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr9:33386193G>A	ENST00000537089.1	-	5	449	c.131C>T	c.(130-132)aCg>aTg	p.T44M	AQP7_ENST00000541274.1_Intron|AQP7_ENST00000539936.1_Splice_Site_p.T136M|AQP7_ENST00000377425.4_Splice_Site_p.T79M			O14520	AQP7_HUMAN	aquaporin 7	136					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)		GAGAATGGCCGCTGCGGAGAC	0.567																																																0													71	70	70					9																	33386193		2203	4300	6503	SO:0001630	splice_region_variant	364			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.131-1C>T	9.37:g.33386193G>A			Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000537089.1	37		.	.	.	.	.	.	.	.	.	.	-	17.06	3.291580	0.59976	.	.	ENSG00000165269	ENST00000537089;ENST00000379507;ENST00000447660;ENST00000297988;ENST00000377425;ENST00000439678;ENST00000379506;ENST00000539936;ENST00000379503	T;T;T;T;T;T;T;T;T	0.11821	2.74;2.74;2.74;2.74;2.74;2.74;2.74;2.74;2.74	3.98	-7.38	0.01407	Aquaporin-like (2);	2.946990	0.01163	N	0.006685	T	0.09158	0.0226	L	0.43923	1.385	0.09310	N	1	B;B;B;P	0.35780	0.174;0.16;0.174;0.52	B;B;B;B	0.26202	0.008;0.067;0.046;0.011	T	0.20174	-1.0283	10	0.87932	D	0	.	3.8747	0.09051	0.0816:0.336:0.1506:0.4317	.	135;136;79;136	Q5T5M0;B7Z4U2;Q6P5T0;O14520	.;.;.;AQP7_HUMAN	M	44;135;4;136;79;44;135;136;72	ENSP00000441619:T44M;ENSP00000368821:T135M;ENSP00000412868:T4M;ENSP00000297988:T136M;ENSP00000396111:T79M;ENSP00000410138:T44M;ENSP00000368820:T135M;ENSP00000439534:T136M;ENSP00000368817:T72M	ENSP00000297988:T136M	T	-	2	0	AQP7	33376193	0.000000	0.05858	0.002000	0.10522	0.883000	0.51084	-0.324000	0.07986	-1.638000	0.01529	0.645000	0.84053	ACG		0.567	AQP7-202	KNOWN	basic	protein_coding	protein_coding		NM_001170	Missense_Mutation	A	33386193	G	A	33386193	5	1	739	1	0	0	0	0	0	0	1	0	831	1101	38	1	633	1	AQP7	9	33386193	Splice_Site	SNP	G	TCGA-KN-8433-01A-11D-2310-10	41	33386193	107827238	98	43009			2	102		5	3	504	N	G_C	7.695331e-06
PRSS3	5646	mdanderson.org	37	9	33796672	33796673	+	Missense_Mutation	DNP	TG	TG	CA	rs77765166|rs76740888		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	TG	TG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr9:33796672_33796673TG>CA	ENST00000361005.5	+	2	243_244	c.243_244TG>CA	c.(241-246)atTGtt>atCAtt	p.V82I	PRSS3_ENST00000429677.3_Missense_Mutation_p.V18I|PRSS3_ENST00000342836.4_Missense_Mutation_p.V39I|RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000379405.3_Missense_Mutation_p.V25I	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3	82	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)			ATGACAAGATTGTTGGGGGCTA	0.554																																																0																																										SO:0001583	missense	5646				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	Exception_encountered	9.37:g.33796672_33796673delinsCA	ENSP00000354280:p.Val82Ile		A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	Missense_Mutation	DNP	ENST00000361005.5	37	CCDS47958.1																																																																																				0.554	PRSS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052121.1	NM_002771		CA	33796673	TG	CA	33796672	3	2	739	1	0	0	0	0	1	0	0	0	12627	1800	63	3	293	3	PRSS3	9	33796672	Missense_Mutation	DNP	TG	TCGA-KN-8433-01A-11D-2310-10	410479	33796672	107416759	99	43010											
ALDH1B1	219	mdanderson.org;bcgsc.ca	37	9	38396065	38396065	+	Missense_Mutation	SNP	G	G	T	rs2073478	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr9:38396065G>T	ENST00000377698.3	+	2	473	c.320G>T	c.(319-321)cGc>cTc	p.R107L		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	107			L -> R (in allele ALDHA1B1*3; dbSNP:rs2073478). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15164053, ECO:0000269|PubMed:8244338}.		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)		CTGCTGAACCGCCTGGCAGAC	0.627													G|||	1978	0.394968	0.2572	0.3646	5008	,	,		17971	0.3036		0.6093	False		,,,				2504	0.4765															0								G	LEU/ARG	1354,3052	450.6+/-349.4	214,926,1063	80	89	86		320	2.8	1	9	dbSNP_96	86	5192,3408	639.3+/-399.4	1574,2044,682	yes	missense	ALDH1B1	NM_000692.4	102	1788,2970,1745	TT,TG,GG		39.6279,30.7308,49.6694	benign	107/518	38396065	6546,6460	2203	4300	6503	SO:0001583	missense	219			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.320G>T	9.37:g.38396065G>T	ENSP00000366927:p.Arg107Leu		B2R8F0|Q8WX76|Q9BV45	Missense_Mutation	SNP	ENST00000377698.3	37	CCDS6615.1	917	0.4198717948717949	140	0.2845528455284553	156	0.430939226519337	167	0.291958041958042	454	0.5989445910290238	G	17.79	3.476510	0.63737	0.307308	0.603721	ENSG00000137124	ENST00000377698	T	0.78246	-1.16	5.61	2.79	0.32731	.	0.182441	0.37761	N	0.001953	T	0.00012	0.0000	.	.	.	0.23563	P	0.99740854	.	.	.	.	.	.	T	0.48758	-0.9007	6	0.72032	D	0.01	.	7.7413	0.28843	0.1173:0.0:0.7444:0.1383	rs2073478;rs17844915;rs17857639;rs56596067;rs60107705;rs2073478	.	.	.	L	107	ENSP00000366927:R107L	ENSP00000366927:R107L	R	+	2	0	ALDH1B1	38386065	0.493000	0.26035	0.990000	0.47175	0.995000	0.86356	2.228000	0.42981	0.332000	0.23536	0.655000	0.94253	CGC		0.627	ALDH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052492.1			T	38396065	G	T	38396065	3	4	739	1	0	0	0	0	1	0	0	0	493	1087	38	4	322	4	ALDH1B1	9	38396065	Missense_Mutation	SNP	G	TCGA-KN-8433-01A-11D-2310-10	4599393	38396065	102817366	100	43011											
CNTNAP3	79937	mdanderson.org	37	9	39140621	39140621	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr9:39140621A>G	ENST00000297668.6	-	12	1844	c.1771T>C	c.(1771-1773)Tct>Cct	p.S591P	CNTNAP3_ENST00000323947.7_Missense_Mutation_p.S498P|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.S591P|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.S591P|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.S503P	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	591	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)		GCTTCACAAGACTGCTCGTAG	0.463																																																0													28	32	31					9																	39140621		2202	4299	6501	SO:0001583	missense	79937			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.1771T>C	9.37:g.39140621A>G	ENSP00000297668:p.Ser591Pro		B1AMA0|Q9C0E9	Missense_Mutation	SNP	ENST00000297668.6	37	CCDS6616.1	.	.	.	.	.	.	.	.	.	.	A	12.90	2.076280	0.36662	.	.	ENSG00000106714	ENST00000297668;ENST00000377656;ENST00000358144;ENST00000323947;ENST00000377659	T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33	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	0.65037	0.2653	M	0.92604	3.325	0.35856	D	0.827122	D;D;D;D;D	0.89917	0.999;1.0;0.999;1.0;0.999	D;D;D;D;D	0.91635	0.98;0.997;0.991;0.999;0.995	T	0.76429	-0.2962	9	0.66056	D	0.02	.	10.1498	0.42786	1.0:0.0:0.0:0.0	.	498;591;591;591;591	E2QRH2;Q96NU0;Q9BZ76-2;A6NC89;Q9BZ76	.;CNT3B_HUMAN;.;.;CNTP3_HUMAN	P	591;591;503;498;591	ENSP00000297668:S591P;ENSP00000366884:S591P;ENSP00000350863:S503P;ENSP00000320728:S498P;ENSP00000366887:S591P	ENSP00000297668:S591P	S	-	1	0	CNTNAP3	39130621	1.000000	0.71417	0.576000	0.28549	0.024000	0.10985	7.878000	0.87231	1.304000	0.44892	0.361000	0.22055	TCT		0.463	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	NM_033655		G	39140621	A	G	39140621	3	3	739	1	0	0	0	0	1	0	0	0	3650	275	10	3	2147	3	CNTNAP3	9	39140621	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	744556	39140621	102072810	101	43012											
C5	727	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	9	123783821	123783821	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr9:123783821T>C	ENST00000223642.1	-	11	1297	c.1268A>G	c.(1267-1269)aAt>aGt	p.N423S		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	423					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)	AGATGGGAGATTAAGCACAAA	0.418																																																0													172	140	151					9																	123783821		2203	4300	6503	SO:0001583	missense	727			M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"Complement system", "Endogenous ligands"	1331	protein-coding gene	gene with protein product	"prepro-C5", "C5a anaphylatoxin"	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.1268A>G	9.37:g.123783821T>C	ENSP00000223642:p.Asn423Ser		Q14CJ0|Q27I61	Missense_Mutation	SNP	ENST00000223642.1	37	CCDS6826.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.353403	0.82243	.	.	ENSG00000106804	ENST00000223642;ENST00000430906	T	0.36340	1.26	5.97	5.97	0.96955	.	0.041242	0.85682	D	0.000000	T	0.67154	0.2863	M	0.89715	3.055	0.47183	D	0.999349	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	T	0.71866	-0.4463	10	0.44086	T	0.13	.	15.642	0.77012	0.0:0.0:0.0:1.0	.	494;423	Q59GS8;P01031	.;CO5_HUMAN	S	423;494	ENSP00000223642:N423S	ENSP00000223642:N423S	N	-	2	0	C5	122823642	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.307000	0.65762	2.288000	0.76882	0.533000	0.62120	AAT		0.418	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	NM_001735		C	123783821	T	C	123783821	3	2	739	1	0	0	0	0	1	0	0	0	2282	1493	52	3	3886	3	C5	9	123783821	Missense_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10	84643200	123783821	17429610	102	43013											
SFTPA1	653509	mdanderson.org	37	10	81371398	81371398	+	Intron	SNP	G	G	A	rs3997773	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr10:81371398G>A	ENST00000398636.3	+	3	115				SFTPA1_ENST00000372308.3_Splice_Site|SFTPA1_ENST00000428376.2_Intron|SFTPA1_ENST00000372313.5_Intron|SFTPA1_ENST00000419470.2_Splice_Site	NM_001164644.1|NM_001164646.1|NM_005411.4	NP_001158116.1|NP_001158118.1|NP_005402.3	Q8IWL2	SFTA1_HUMAN	surfactant protein A1						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)			CAGGTGCCAGGTGATGCTGGG	0.642													g|||	11	0.00219649	0.0053	0.0043	5008	,	,		17545	0.0		0.0	False		,,,				2504	0.001															0													28	34	32					10																	81371398		692	1591	2283	SO:0001627	intron_variant	653509			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.-23-161G>A	10.37:g.81371398G>A			A8K3T8|B7ZW50|E3VLD8|E3VLD9|E3VLE0|E3VLE1|G5E9J3|P07714|Q14DV4|Q5RIR5|Q5RIR7|Q6PIT0|Q8TC19	Splice_Site	SNP	ENST00000398636.3	37	CCDS44445.1	95	0.043498168498168496	15	0.03048780487804878	10	0.027624309392265192	22	0.038461538461538464	48	0.0633245382585752	g	5.406	0.260129	0.10239	.	.	ENSG00000122852	ENST00000419470	.	.	.	2.71	0.308	0.15815	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.9149	0.13840	0.7088:0.0:0.2912:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SFTPA1	81041404	0.001000	0.12720	0.002000	0.10522	0.161000	0.22273	0.952000	0.29149	0.022000	0.15160	-0.832000	0.03076	.		0.642	SFTPA1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_005411		A	81371398	G	A	81371398	1	1	739	0	1	0	0	0	0	0	0	0	14195	1275	44	2		2	SFTPA1	10	81371398	Intron	SNP	G	TCGA-KN-8433-01A-11D-2310-10		81371398	54163349	103	43014											
FAM35A	54537	mdanderson.org	37	10	88911273	88911273	+	Silent	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr10:88911273A>G	ENST00000298784.1	+	3	276	c.162A>G	c.(160-162)aaA>aaG	p.K54K	RN7SL733P_ENST00000582253.1_RNA|FAM35A_ENST00000298786.4_Silent_p.K54K	NM_019054.2	NP_061927.2	Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	54										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						AGGATGAAAAACAGCACAAAA	0.348																																					Ovarian(175;703 2004 25460 32514 43441)											0													36	38	37					10																	88911273		2202	4297	6499	SO:0001819	synonymous_variant	54537			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.162A>G	10.37:g.88911273A>G			O95885|Q9H991	Silent	SNP	ENST00000298784.1	37	CCDS7383.1																																																																																				0.348	FAM35A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049196.2	NM_019054		G	88911273	A	G	88911273	2	3	739	1	0	0	0	0	0	0	0	1	5555	40	2	3		3	FAM35A	10	88911273	Silent	SNP	A	TCGA-KN-8433-01A-11D-2310-10	7539875	88911273	46623474	104	43015											
CHUK	1147	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	10	101969426	101969426	+	Nonsense_Mutation	SNP	G	G	A	rs34838525		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr10:101969426G>A	ENST00000370397.7	-	10	1140	c.1054C>T	c.(1054-1056)Caa>Taa	p.Q352*		NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	352					anatomical structure morphogenesis (GO:0009653)|cellular response to tumor necrosis factor (GO:0071356)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|morphogenesis of an epithelial sheet (GO:0002011)|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)|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)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|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)|protein phosphorylation (GO:0006468)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hydroperoxide (GO:0033194)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|response to virus (GO:0009615)|Rho protein signal transduction (GO:0007266)|skeletal muscle contraction (GO:0003009)|striated muscle cell differentiation (GO:0051146)|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)|intracellular membrane-bounded organelle (GO:0043231)|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)|scaffold protein binding (GO:0097110)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	Acetylcysteine(DB06151)|Aminosalicylic Acid(DB00233)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	AGAAGTTCTTGAGAACCAGTA	0.373																																					Ovarian(159;52 1904 10536 35305 37148)											0													69	70	69					10																	101969426		2203	4300	6503	SO:0001587	stop_gained	1147			AF009225	CCDS7488.1	10q24-q25	2008-08-01			ENSG00000213341	ENSG00000213341			1974	protein-coding gene	gene with protein product		600664		TCF16		7558004, 16902410	Standard	XR_246062		Approved	IKK1, IKK-alpha, IkBKA, NFKBIKA, IKKA	uc001kqp.3	O15111	OTTHUMG00000018899	ENST00000370397.7:c.1054C>T	10.37:g.101969426G>A	ENSP00000359424:p.Gln352*		O14666|Q13132|Q5W0I4|Q92467	Nonsense_Mutation	SNP	ENST00000370397.7	37	CCDS7488.1	.	.	.	.	.	.	.	.	.	.	G	37	6.269173	0.97431	.	.	ENSG00000213341	ENST00000370397	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-12.278	17.8404	0.88713	0.0:0.0:1.0:0.0	.	.	.	.	X	352	.	ENSP00000359424:Q352X	Q	-	1	0	CHUK	101959416	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	9.869000	0.99810	2.798000	0.96311	0.655000	0.94253	CAA		0.373	CHUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049836.1	NM_001278		A	101969426	G	A	101969426	4	1	739	1	0	0	0	0	0	1	0	0	3418	1299	45	2	1231	2	CHUK	10	101969426	Nonsense_Mutation	SNP	G	TCGA-KN-8433-01A-11D-2310-10	13058153	101969426	33565321	105	43016											
SLK	9748	hgsc.bcm.edu	37	10	105762029	105762030	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr10:105762029_105762030insA	ENST00000369755.3	+	9	1638_1639	c.1093_1094insA	c.(1093-1095)gaafs	p.E365fs	SLK_ENST00000335753.4_Frame_Shift_Ins_p.E365fs	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	365	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)		GTCTGTCTCAGAAAAAACAGAA	0.386																																					NSCLC(111;540 1651 1927 4474 17706)											0																																										SO:0001589	frameshift_variant	9748				CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)", "STE20-like kinase (yeast)"			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.1099dupA	10.37:g.105762035_105762035dupA	ENSP00000358770:p.Glu365fs		D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Frame_Shift_Ins	INS	ENST00000369755.3	37	CCDS7553.1																																																																																				0.386	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1	NM_014720		A	105762030	-	A	105762029	7	5	739	1	0	1	1	0	0	0	0	0	14754	943	33	0	1127	0	SLK	10	105762029	Frame_Shift_Ins	INS	-	TCGA-KN-8433-01A-11D-2310-10	3792603	105762029	29772718	106	43017	409	2									
SLK	9748	bcgsc.ca	37	10	105762030	105762031	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr10:105762030_105762031insA	ENST00000369755.3	+	9	1639_1640	c.1094_1095insA	c.(1093-1098)gaaaaafs	p.EK365fs	SLK_ENST00000335753.4_Frame_Shift_Ins_p.EK365fs	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	365	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)		TCTGTCTCAGAAAAAACAGAAC	0.386																																					NSCLC(111;540 1651 1927 4474 17706)											0																																										SO:0001589	frameshift_variant	9748				CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)", "STE20-like kinase (yeast)"			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.1099dupA	10.37:g.105762035_105762035dupA	ENSP00000358770:p.Glu365fs		D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Frame_Shift_Ins	INS	ENST00000369755.3	37	CCDS7553.1																																																																																				0.386	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1	NM_014720		A	105762031	-	A	105762030	7	5	739	1	0	1	1	0	0	0	0	0	14754	246	9	0	1128	0	SLK	10	105762030	Frame_Shift_Ins	INS	-	TCGA-KN-8433-01A-11D-2310-10	1	105762030	29772717	107	43018	409	2									
MUC6	4588	mdanderson.org	37	11	1016243	1016243	+	Silent	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr11:1016243A>G	ENST00000421673.2	-	31	6608	c.6558T>C	c.(6556-6558)caT>caC	p.H2186H		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2186	Ser-rich.|Thr-rich.				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)		CAGTCGTGGGATGAGTGGACA	0.547																																																0													34	37	36					11																	1016243		2144	4233	6377	SO:0001819	synonymous_variant	4588			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.6558T>C	11.37:g.1016243A>G			O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	CCDS44513.1																																																																																				0.547	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		G	1016243	A	G	1016243	2	3	739	1	0	0	0	0	0	0	0	1	9982	330	12	3		3	MUC6	11	1016243	Silent	SNP	A	TCGA-KN-8433-01A-11D-2310-10		1016243	133990273	108	43019			3	103		6	6	2098	N	T_G_AC_A	9.685436e-12
MUC6	4588	mdanderson.org	37	11	1016604	1016605	+	Missense_Mutation	DNP	AC	AC	GG	rs147913342|rs148590913		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	AC	AC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr11:1016604_1016605AC>GG	ENST00000421673.2	-	31	6246_6247	c.6196_6197GT>CC	c.(6196-6198)GTg>CCg	p.V2066P		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2066	Thr-rich.				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)		ACTGGTGGTCACTGTCATTGGT	0.579																																																0																																										SO:0001583	missense	4588			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.6196_6197delinsGG	11.37:g.1016604_1016605delinsGG	ENSP00000406861:p.Val2066Pro		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	DNP	ENST00000421673.2	37	CCDS44513.1																																																																																				0.579	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		GG	1016605	AC	GG	1016604	3	3	739	1	0	0	0	0	1	0	0	0	9982	159	6	3	1134	3	MUC6	11	1016604	Missense_Mutation	DNP	AC	TCGA-KN-8433-01A-11D-2310-10	361	1016604	133989912	109	43020			3	103		6	6	2098	N	T_G_AC_A	9.685436e-12
MUC6	4588	mdanderson.org	37	11	1016770	1016770	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr11:1016770G>A	ENST00000421673.2	-	31	6081	c.6031C>T	c.(6031-6033)Cct>Tct	p.P2011S		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2011	Thr-rich.				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)	p.P2011S(1)		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)		GTGGAGAAAGGTGGAACGTGA	0.532																																																1	Substitution - Missense(1)	skin(1)																																								SO:0001583	missense	4588			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.6031C>T	11.37:g.1016770G>A	ENSP00000406861:p.Pro2011Ser		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.638370	0.00799	.	.	ENSG00000184956	ENST00000421673	T	0.17370	2.28	2.4	-4.79	0.03200	.	.	.	.	.	T	0.06735	0.0172	N	0.21194	0.64	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39014	-0.9634	9	0.07990	T	0.79	.	1.1636	0.01810	0.3722:0.1007:0.2914:0.2356	.	2011	Q6W4X9	MUC6_HUMAN	S	2011	ENSP00000406861:P2011S	ENSP00000406861:P2011S	P	-	1	0	MUC6	1006770	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.781000	0.00773	-2.945000	0.00295	-0.671000	0.03813	CCT		0.532	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		A	1016770	G	A	1016770	3	1	739	1	0	0	0	0	1	0	0	0	9982	1261	44	2	1300	2	MUC6	11	1016770	Missense_Mutation	SNP	G	TCGA-KN-8433-01A-11D-2310-10	166	1016770	133989746	110	43021			3	103		6	6	2098	N	T_G_AC_A	9.685436e-12
MUC6	4588	mdanderson.org	37	11	1017088	1017088	+	Missense_Mutation	SNP	A	A	C	rs74990443		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr11:1017088A>C	ENST00000421673.2	-	31	5763	c.5713T>G	c.(5713-5715)Tcc>Gcc	p.S1905A		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1905	Approximate repeats.|Thr-rich.			SP -> AA (in Ref. 5; AAA35866). {ECO:0000305}.	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)		GAGCTTGGGGATTGGCTGGTC	0.547																																																0													644	677	666					11																	1017088		2200	4281	6481	SO:0001583	missense	4588			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.5713T>G	11.37:g.1017088A>C	ENSP00000406861:p.Ser1905Ala		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	a	0.028	-1.355862	0.01245	.	.	ENSG00000184956	ENST00000421673	T	0.18174	2.23	3.01	-6.01	0.02199	.	.	.	.	.	T	0.02533	0.0077	N	0.00268	-1.735	0.09310	N	1	B	0.22851	0.076	B	0.30251	0.113	T	0.22487	-1.0215	9	0.07644	T	0.81	.	1.0607	0.01600	0.4226:0.139:0.111:0.3274	.	1905	Q6W4X9	MUC6_HUMAN	A	1905	ENSP00000406861:S1905A	ENSP00000406861:S1905A	S	-	1	0	MUC6	1007088	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-3.715000	0.00385	-2.137000	0.00809	-0.672000	0.03802	TCC		0.547	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		C	1017088	A	C	1017088	3	2	739	1	0	0	0	0	1	0	0	0	9982	333	12	5	1618	5	MUC6	11	1017088	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	318	1017088	133989428	111	43022			3	103		6	6	2098	N	T_G_AC_A	9.685436e-12
MUC6	4588	mdanderson.org	37	11	1017226	1017226	+	Missense_Mutation	SNP	T	T	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr11:1017226T>G	ENST00000421673.2	-	31	5625	c.5575A>C	c.(5575-5577)Acc>Ccc	p.T1859P		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1859	Approximate repeats.|Thr-rich.				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)		TGTGTGTGGGTAGGGATGATG	0.562																																																0													303	303	303					11																	1017226		2191	4282	6473	SO:0001583	missense	4588			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.5575A>C	11.37:g.1017226T>G	ENSP00000406861:p.Thr1859Pro		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	T	12.56	1.975777	0.34848	.	.	ENSG00000184956	ENST00000421673	T	0.28255	1.62	2.55	2.55	0.30701	.	.	.	.	.	T	0.49253	0.1546	M	0.69358	2.11	0.23602	N	0.997314	D	0.89917	1.0	D	0.85130	0.997	T	0.18681	-1.0329	9	0.41790	T	0.15	.	8.9081	0.35537	0.0:0.0:0.0:1.0	.	1859	Q6W4X9	MUC6_HUMAN	P	1859	ENSP00000406861:T1859P	ENSP00000406861:T1859P	T	-	1	0	MUC6	1007226	0.044000	0.20184	0.026000	0.17262	0.023000	0.10783	-1.754000	0.01816	1.436000	0.47453	0.260000	0.18958	ACC		0.562	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		G	1017226	T	G	1017226	3	3	739	1	0	0	0	0	1	0	0	0	9982	1638	57	5	1756	5	MUC6	11	1017226	Missense_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10	138	1017226	133989290	112	43023			3	103		6	6	2098	N	T_G_AC_A	9.685436e-12
MUC6	4588	mdanderson.org	37	11	1018340	1018340	+	Silent	SNP	T	T	C	rs77556339		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr11:1018340T>C	ENST00000421673.2	-	31	4511	c.4461A>G	c.(4459-4461)ccA>ccG	p.P1487P		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1487	Pro-rich.|Thr-rich.				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)		TGAGCGTTGTTGGTGGAGGAA	0.572																																																0													270	276	274					11																	1018340		2185	4270	6455	SO:0001819	synonymous_variant	4588			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.4461A>G	11.37:g.1018340T>C			O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	CCDS44513.1																																																																																				0.572	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		C	1018340	T	C	1018340	2	2	739	1	0	0	0	0	0	0	0	1	9982	1799	63	3		3	MUC6	11	1018340	Silent	SNP	T	TCGA-KN-8433-01A-11D-2310-10	1114	1018340	133988176	113	43024			3	103		6	6	2098	N	T_G_AC_A	9.685436e-12
OR51B6	390058	mdanderson.org	37	11	5373489	5373489	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr11:5373489T>C	ENST00000380219.1	+	1	752	c.752T>C	c.(751-753)gTc>gCc	p.V251A	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	251					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)		GTCTTCTATGTCACTGTAGTT	0.443																																																0													243	214	224					11																	5373489		2201	4297	6498	SO:0001583	missense	390058				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.752T>C	11.37:g.5373489T>C	ENSP00000369568:p.Val251Ala			Missense_Mutation	SNP	ENST00000380219.1	37	CCDS31379.1	.	.	.	.	.	.	.	.	.	.	T	13.69	2.312400	0.40895	.	.	ENSG00000176239	ENST00000537299;ENST00000380219	T	0.38240	1.15	4.89	3.76	0.43208	GPCR, rhodopsin-like superfamily (1);	0.423027	0.19753	N	0.106855	T	0.42720	0.1215	M	0.73217	2.22	0.25539	N	0.987191	B	0.34349	0.45	B	0.41917	0.37	T	0.41805	-0.9488	10	0.72032	D	0.01	.	8.6465	0.34009	0.0:0.0915:0.0:0.9085	.	251	Q9H340	O51B6_HUMAN	A	250;251	ENSP00000369568:V251A	ENSP00000369568:V251A	V	+	2	0	OR51B6	5330065	0.001000	0.12720	0.761000	0.31378	0.953000	0.61014	1.201000	0.32259	0.883000	0.36040	0.455000	0.32223	GTC		0.443	OR51B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142960.1	NM_001004750		C	5373489	T	C	5373489	3	2	739	1	0	0	0	0	1	0	0	0	11094	1667	58	3	754	3	OR51B6	11	5373489	Missense_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10	4355149	5373489	129633027	114	43025											
RRP8	23378	mdanderson.org	37	11	6623149	6623149	+	Silent	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr11:6623149T>C	ENST00000254605.6	-	2	513	c.396A>G	c.(394-396)agA>agG	p.R132R	ILK_ENST00000420936.2_5'Flank|ILK_ENST00000537806.1_5'Flank|ILK_ENST00000528995.1_5'Flank|RP11-732A19.8_ENST00000527191.1_RNA|ILK_ENST00000299421.4_5'Flank|RRP8_ENST00000534343.1_Intron|ILK_ENST00000396751.2_5'Flank	NM_015324.3	NP_056139.1	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase, homolog (yeast)	132					cellular response to glucose starvation (GO:0042149)|chromatin modification (GO:0016568)|chromatin silencing at rDNA (GO:0000183)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription by glucose (GO:0046015)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|rDNA heterochromatin (GO:0033553)	methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						ATTTCCTCTTTCTTTTCTCAT	0.463																																																0													165	149	155					11																	6623149		2201	4296	6497	SO:0001819	synonymous_variant	23378			AB007869	CCDS31411.1	11p15.4	2009-02-23	2009-02-23	2009-02-23	ENSG00000132275	ENSG00000132275			29030	protein-coding gene	gene with protein product	RRP8 methyltransferase homolog (S. cerevisiae)	615818	"KIAA0409"	KIAA0409		9455477	Standard	NM_015324		Approved		uc001med.3	O43159		ENST00000254605.6:c.396A>G	11.37:g.6623149T>C			Q7KZ78|Q9BVM6	Silent	SNP	ENST00000254605.6	37	CCDS31411.1																																																																																				0.463	RRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384505.1	NM_015324		C	6623149	T	C	6623149	2	2	739	1	0	0	0	0	0	0	0	1	13696	1780	62	3		3	RRP8	11	6623149	Silent	SNP	T	TCGA-KN-8433-01A-11D-2310-10	1249660	6623149	128383367	115	43026											
OR2AG2	338755	mdanderson.org	37	11	6789972	6789972	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr11:6789972A>G	ENST00000338569.2	-	1	314	c.217T>C	c.(217-219)Ttc>Ctc	p.F73L		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	73						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)		ACAGATGTGAACAGGAGGTCC	0.557																																																0													139	127	131					11																	6789972		2201	4293	6494	SO:0001583	missense	338755			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.217T>C	11.37:g.6789972A>G	ENSP00000342697:p.Phe73Leu			Missense_Mutation	SNP	ENST00000338569.2	37	CCDS31413.1	.	.	.	.	.	.	.	.	.	.	A	6.014	0.370903	0.11409	.	.	ENSG00000188124	ENST00000338569	T	0.14022	2.54	4.15	1.83	0.25207	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000087	T	0.07413	0.0187	L	0.31420	0.93	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.42258	-0.9462	10	0.06625	T	0.88	.	7.0855	0.25255	0.8036:0.0:0.1964:0.0	.	73	A6NM03	O2AG2_HUMAN	L	73	ENSP00000342697:F73L	ENSP00000342697:F73L	F	-	1	0	OR2AG2	6746548	0.117000	0.22190	0.399000	0.26333	0.994000	0.84299	4.445000	0.60007	0.400000	0.25396	0.459000	0.35465	TTC		0.557	OR2AG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386775.1	NM_001004490		G	6789972	A	G	6789972	3	3	739	1	0	0	0	0	1	0	0	0	10987	43	2	3	737	3	OR2AG2	11	6789972	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	166823	6789972	128216544	116	43027											
OR10A2	341276	mdanderson.org	37	11	6891395	6891395	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr11:6891395T>C	ENST00000307322.4	+	1	472	c.410T>C	c.(409-411)tTc>tCc	p.F137S		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, 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)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GCCTCCTGGTTCCCAGGCTTT	0.532																																																0													141	134	136					11																	6891395		2201	4296	6497	SO:0001583	missense	341276			BK004293	CCDS31415.1	11p15.4	2012-08-09		2004-03-10	ENSG00000170790	ENSG00000170790		"GPCR / Class A : Olfactory receptors"	8161	protein-coding gene	gene with protein product				OR10A2P			Standard	NM_001004460		Approved	OST363	uc001meu.1	Q9H208	OTTHUMG00000165739	ENST00000307322.4:c.410T>C	11.37:g.6891395T>C	ENSP00000303862:p.Phe137Ser		B2RNL9|Q6IFG9	Missense_Mutation	SNP	ENST00000307322.4	37	CCDS31415.1	.	.	.	.	.	.	.	.	.	.	t	13.19	2.162079	0.38217	.	.	ENSG00000170790	ENST00000307322	T	0.37584	1.19	3.99	2.86	0.33363	GPCR, rhodopsin-like superfamily (1);	0.110904	0.41001	D	0.000966	T	0.23410	0.0566	N	0.12663	0.25	0.33175	D	0.548826	B	0.26809	0.16	B	0.37239	0.244	T	0.27123	-1.0083	10	0.48119	T	0.1	.	7.5596	0.27843	0.0:0.1055:0.0:0.8945	.	137	Q9H208	O10A2_HUMAN	S	137	ENSP00000303862:F137S	ENSP00000303862:F137S	F	+	2	0	OR10A2	6847971	0.020000	0.18652	0.999000	0.59377	0.789000	0.44602	1.461000	0.35255	0.705000	0.31890	0.529000	0.55759	TTC		0.532	OR10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385984.1	NM_001004460		C	6891395	T	C	6891395	3	2	739	1	0	0	0	0	1	0	0	0	10892	1783	62	3	412	3	OR10A2	11	6891395	Missense_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10	101423	6891395	128115121	117	43028											
SBF2	81846	mdanderson.org	37	11	9809226	9809226	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr11:9809226C>T	ENST00000256190.8	-	36	5129	c.4992G>A	c.(4990-4992)tgG>tgA	p.W1664*	SBF2-AS1_ENST00000534671.1_RNA|SBF2-AS1_ENST00000525636.1_RNA|SBF2-AS1_ENST00000499953.2_RNA|SBF2-AS1_ENST00000498905.2_RNA|SBF2-AS1_ENST00000526617.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1664	Interaction with MTMR2.				cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		TTACCCTTTCCCACAGCTGCT	0.443																																																0													125	116	119					11																	9809226		2201	4294	6495	SO:0001587	stop_gained	81846			AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins", "DENN/MADD domain containing", "Pleckstrin homology (PH) domain containing"	2135	protein-coding gene	gene with protein product	"myotubularin related 13"	607697	"Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)", "DENN/MADD domain containing 7B"	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.4992G>A	11.37:g.9809226C>T	ENSP00000256190:p.Trp1664*		Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Nonsense_Mutation	SNP	ENST00000256190.8	37	CCDS31427.1	.	.	.	.	.	.	.	.	.	.	C	47	13.366877	0.99737	.	.	ENSG00000133812	ENST00000256190;ENST00000532095	.	.	.	6.17	6.17	0.99709	.	0.142478	0.56097	D	0.000023	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	1664;52	.	ENSP00000256190:W1664X	W	-	3	0	SBF2	9765802	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.435000	0.80391	2.941000	0.99782	0.655000	0.94253	TGG		0.443	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962		T	9809226	C	T	9809226	4	4	739	1	0	0	0	0	0	1	0	0	13865	624	22	2	577	2	SBF2	11	9809226	Nonsense_Mutation	SNP	C	TCGA-KN-8433-01A-11D-2310-10	2917831	9809226	125197290	118	43029											
EIF4G2	1982	mdanderson.org	37	11	10823662	10823662	+	Silent	SNP	C	C	T			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr11:10823662C>T	ENST00000526148.1	-	13	1743	c.1233G>A	c.(1231-1233)ggG>ggA	p.G411G	EIF4G2_ENST00000339995.5_Silent_p.G411G|EIF4G2_ENST00000525995.1_5'Flank|RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000396525.2_Silent_p.G411G|SNORD97_ENST00000459187.1_RNA|EIF4G2_ENST00000525681.1_Silent_p.G411G	NM_001172705.1	NP_001166176			eukaryotic translation initiation factor 4 gamma, 2											NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TGATGTGTCCCCCATGGCCAT	0.448																																																0													139	122	128					11																	10823662		2201	4294	6495	SO:0001819	synonymous_variant	1982			U73824	CCDS31428.1, CCDS41618.1	11p15	2005-09-29			ENSG00000110321	ENSG00000110321			3297	protein-coding gene	gene with protein product		602325				9030685, 9032289	Standard	NM_001042559		Approved	DAP5, NAT1, p97	uc001mjc.3	P78344	OTTHUMG00000165823	ENST00000526148.1:c.1233G>A	11.37:g.10823662C>T				Silent	SNP	ENST00000526148.1	37	CCDS31428.1																																																																																				0.448	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1	NM_001418		T	10823662	C	T	10823662	2	4	739	1	0	0	0	0	0	0	0	1	5039	610	22	2		2	EIF4G2	11	10823662	Silent	SNP	C	TCGA-KN-8433-01A-11D-2310-10	1014436	10823662	124182854	119	43030											
MYBPC3	4607	mdanderson.org	37	11	47364266	47364266	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr11:47364266T>C	ENST00000545968.1	-	17	1541	c.1487A>G	c.(1486-1488)gAg>gGg	p.E496G	MYBPC3_ENST00000256993.4_Missense_Mutation_p.E495G|MYBPC3_ENST00000399249.2_Missense_Mutation_p.E496G	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	496	Ig-like C2-type 3.				cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		GAAGGTCTCCTCCCGGGTCAG	0.627																																																0													157	158	158					11																	47364266		2142	4252	6394	SO:0001583	missense	4607			X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7551	protein-coding gene	gene with protein product		600958	"myosin-binding protein C, cardiac"	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.1487A>G	11.37:g.47364266T>C	ENSP00000442795:p.Glu496Gly		A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Missense_Mutation	SNP	ENST00000545968.1	37	CCDS53621.1	.	.	.	.	.	.	.	.	.	.	T	13.76	2.333648	0.41297	.	.	ENSG00000134571	ENST00000545968;ENST00000399249;ENST00000256993	T;T;T	0.67345	-0.26;-0.26;-0.26	4.63	4.63	0.57726	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.45054	0.1323	N	0.05199	-0.095	0.49213	D	0.999763	B	0.18310	0.027	B	0.26969	0.075	T	0.36841	-0.9731	9	0.11485	T	0.65	.	14.1729	0.65522	0.0:0.0:0.0:1.0	.	495	Q14896	MYPC3_HUMAN	G	496;496;495	ENSP00000442795:E496G;ENSP00000382193:E496G;ENSP00000256993:E495G	ENSP00000256993:E495G	E	-	2	0	MYBPC3	47320842	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.440000	0.80464	1.938000	0.56188	0.379000	0.24179	GAG		0.627	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3			C	47364266	T	C	47364266	3	2	739	1	0	0	0	0	1	0	0	0	10015	1551	54	3	2409	3	MYBPC3	11	47364266	Missense_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10	36540604	47364266	87642250	120	43031											
OR5L1	219437	mdanderson.org	37	11	55579068	55579068	+	Silent	SNP	C	C	T	rs575553149		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr11:55579068C>T	ENST00000333973.2	+	1	215	c.126C>T	c.(124-126)aaC>aaT	p.N42N		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	42						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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)				TGTTAGCCAACCTGGGCATGA	0.498																																																0													325	285	299					11																	55579068		2200	4296	6496	SO:0001819	synonymous_variant	219437			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.126C>T	11.37:g.55579068C>T			B2RNK6|Q6IFD0	Silent	SNP	ENST00000333973.2	37	CCDS31509.1																																																																																				0.498	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		T	55579068	C	T	55579068	2	4	739	1	0	0	0	0	0	0	0	1	11172	506	18	2		2	OR5L1	11	55579068	Silent	SNP	C	TCGA-KN-8433-01A-11D-2310-10	8214802	55579068	79427448	121	43032											
OR8J3	81168	mdanderson.org	37	11	55905070	55905070	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr11:55905070T>C	ENST00000301529.1	-	1	124	c.125A>G	c.(124-126)aAc>aGc	p.N42S		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	42						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)					GATGCCCAGGTTCCCTGCCAT	0.488																																																0													140	135	137					11																	55905070		2201	4296	6497	SO:0001583	missense	81168				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.125A>G	11.37:g.55905070T>C	ENSP00000301529:p.Asn42Ser		Q6IFB6|Q96RC2	Missense_Mutation	SNP	ENST00000301529.1	37	CCDS31520.1	.	.	.	.	.	.	.	.	.	.	T	14.95	2.688331	0.48097	.	.	ENSG00000167822	ENST00000301529	T	0.75477	-0.94	3.26	3.26	0.37387	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000002	D	0.88603	0.6481	H	0.94385	3.53	0.22435	N	0.999106	D	0.76494	0.999	D	0.87578	0.998	T	0.81086	-0.1092	10	0.87932	D	0	.	11.5522	0.50726	0.0:0.0:0.0:1.0	.	42	Q8NGG0	OR8J3_HUMAN	S	42	ENSP00000301529:N42S	ENSP00000301529:N42S	N	-	2	0	OR8J3	55661646	1.000000	0.71417	0.330000	0.25442	0.569000	0.35902	6.569000	0.73992	1.268000	0.44264	0.240000	0.17902	AAC		0.488	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1	NM_001004064		C	55905070	T	C	55905070	3	2	739	1	0	0	0	0	1	0	0	0	11244	1725	60	3	824	3	OR8J3	11	55905070	Missense_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10	326002	55905070	79101446	122	43033											
GPR44	11251	mdanderson.org	37	11	60621139	60621139	+	Silent	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr11:60621139A>G	ENST00000332539.4	-	2	168	c.57T>C	c.(55-57)cgT>cgC	p.R19R	RP11-804A23.4_ENST00000538705.1_RNA	NM_004778.2	NP_004769.2	Q9Y5Y4	PD2R2_HUMAN	prostaglandin D2 receptor 2	19					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)	GGCTCTGGAGACGGCTCATCT	0.642																																																0													50	39	43					11																	60621139		2185	4271	6456	SO:0001819	synonymous_variant	11251			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.57T>C	11.37:g.60621139A>G			O94765|Q4QRI6	Silent	SNP	ENST00000332539.4	37	CCDS7994.1																																																																																				0.642	PTGDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396328.1	NM_004778		G	60621139	A	G	60621139	2	3	739	1	0	0	0	0	0	0	0	1	6697	262	10	3		3	GPR44	11	60621139	Silent	SNP	A	TCGA-KN-8433-01A-11D-2310-10	4716069	60621139	74385377	123	43034											
AHNAK	79026	mdanderson.org	37	11	62293548	62293548	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr11:62293548C>T	ENST00000378024.4	-	5	8615	c.8341G>A	c.(8341-8343)Gga>Aga	p.G2781R	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2781					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)	p.G2781*(1)		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)				GGACCTTCTCCTTTGAAGCCA	0.498																																																1	Substitution - Nonsense(1)	prostate(1)											211	209	210					11																	62293548		2202	4299	6501	SO:0001583	missense	79026			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.8341G>A	11.37:g.62293548C>T	ENSP00000367263:p.Gly2781Arg		A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	-	17.18	3.322801	0.60634	.	.	ENSG00000124942	ENST00000378024	T	0.05447	3.44	4.05	4.05	0.47172	.	.	.	.	.	T	0.22704	0.0548	M	0.92833	3.35	0.25107	N	0.990747	P	0.48503	0.911	P	0.50082	0.63	T	0.35076	-0.9803	9	0.19147	T	0.46	.	16.2211	0.82258	0.0:1.0:0.0:0.0	.	2781	Q09666	AHNK_HUMAN	R	2781	ENSP00000367263:G2781R	ENSP00000367263:G2781R	G	-	1	0	AHNAK	62050124	0.080000	0.21391	0.985000	0.45067	0.687000	0.40016	0.757000	0.26433	1.964000	0.57103	0.298000	0.19748	GGA		0.498	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		T	62293548	C	T	62293548	3	4	739	1	0	0	0	0	1	0	0	0	414	690	24	2	9451	2	AHNAK	11	62293548	Missense_Mutation	SNP	C	TCGA-KN-8433-01A-11D-2310-10	1672409	62293548	72712968	124	43035											
ZNHIT2	741	mdanderson.org	37	11	64884065	64884065	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr11:64884065A>G	ENST00000310597.4	-	1	1105	c.1061T>C	c.(1060-1062)cTc>cCc	p.L354P	AP003068.12_ENST00000527789.1_RNA	NM_014205.2	NP_055020.1	Q9UHR6	ZNHI2_HUMAN	zinc finger, HIT-type containing 2	354							metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						CAGGGGTGTGAGGGCCGCCTC	0.637																																																0													42	43	43					11																	64884065		2201	4297	6498	SO:0001583	missense	741				CCDS8094.1	11q13	2012-08-08	2010-09-15	2004-07-14	ENSG00000174276	ENSG00000174276		"Zinc fingers, HIT-type"	1177	protein-coding gene	gene with protein product		604575	"chromosome 11 open reading frame 5", "zinc finger, HIT domain containing 2"	C11orf5			Standard	NM_014205		Approved	FON	uc001ocw.3	Q9UHR6	OTTHUMG00000165604	ENST00000310597.4:c.1061T>C	11.37:g.64884065A>G	ENSP00000308548:p.Leu354Pro		Q3SY14|Q8IUV0	Missense_Mutation	SNP	ENST00000310597.4	37	CCDS8094.1	.	.	.	.	.	.	.	.	.	.	A	18.34	3.603235	0.66445	.	.	ENSG00000174276	ENST00000310597	T	0.36520	1.25	4.79	4.79	0.61399	.	0.199408	0.31809	U	0.007023	T	0.47838	0.1467	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.50048	-0.8873	10	0.87932	D	0	-18.6649	12.3124	0.54935	1.0:0.0:0.0:0.0	.	354	Q9UHR6	ZNHI2_HUMAN	P	354	ENSP00000308548:L354P	ENSP00000308548:L354P	L	-	2	0	ZNHIT2	64640641	0.893000	0.30496	0.934000	0.37439	0.758000	0.43043	4.025000	0.57225	2.008000	0.58898	0.459000	0.35465	CTC		0.637	ZNHIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385260.1	NM_014205		G	64884065	A	G	64884065	3	3	739	1	0	0	0	0	1	0	0	0	18212	304	11	3	154	3	ZNHIT2	11	64884065	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	2590517	64884065	70122451	125	43036											
DYNC2H1	79659	mdanderson.org	37	11	103090674	103090674	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr11:103090674A>G	ENST00000375735.2	+	56	9007	c.8863A>G	c.(8863-8865)Aga>Gga	p.R2955G	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.R2955G	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2955	Stalk. {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)		AGAACTTGAAAGACTGAAGCA	0.264																																																0													43	41	41					11																	103090674		1787	4046	5833	SO:0001583	missense	79659			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.8863A>G	11.37:g.103090674A>G	ENSP00000364887:p.Arg2955Gly		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	A	11.11	1.542244	0.27563	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.74209	-0.82;-0.82	5.87	5.87	0.94306	Dynein heavy chain, coiled coil stalk (1);	0.460130	0.19925	U	0.102996	T	0.54447	0.1859	N	0.08118	0	0.35390	D	0.790719	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.002	T	0.59101	-0.7517	10	0.31617	T	0.26	.	11.2231	0.48866	0.8628:0.0:0.0:0.1372	.	2955;2955	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	G	2955	ENSP00000364887:R2955G;ENSP00000381167:R2955G	ENSP00000364887:R2955G	R	+	1	2	DYNC2H1	102595884	1.000000	0.71417	0.998000	0.56505	0.757000	0.42996	4.123000	0.57917	2.371000	0.80710	0.533000	0.62120	AGA		0.264	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		G	103090674	A	G	103090674	3	3	739	1	0	0	0	0	1	0	0	0	4848	64	3	3	9085	3	DYNC2H1	11	103090674	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	38206609	103090674	31915842	126	43037											
FAM55A	120400	mdanderson.org	37	11	114392857	114392857	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr11:114392857A>G	ENST00000424269.1	-	5	1476	c.1477T>C	c.(1477-1479)Ttc>Ctc	p.F493L	NXPE1_ENST00000536271.1_Missense_Mutation_p.F209L|NXPE1_ENST00000251921.2_Missense_Mutation_p.F351L			Q8N323	NXPE1_HUMAN	neurexophilin and PC-esterase domain family, member 1	493						extracellular region (GO:0005576)											TAACCATGGAAGTCTCCAAAC	0.418																																																0													190	184	186					11																	114392857		2201	4296	6497	SO:0001583	missense	120400			BC029049	CCDS8372.1	11q23.2	2012-06-14	2012-06-11	2012-06-11	ENSG00000095110	ENSG00000095110			28527	protein-coding gene	gene with protein product			"family with sequence similarity 55, member A"	FAM55A		12477932	Standard	NM_152315		Approved	MGC34290	uc001ppa.3	Q8N323	OTTHUMG00000168284	ENST00000424269.1:c.1477T>C	11.37:g.114392857A>G	ENSP00000411690:p.Phe493Leu		B0YJ13	Missense_Mutation	SNP	ENST00000424269.1	37		.	.	.	.	.	.	.	.	.	.	A	22.9	4.351641	0.82132	.	.	ENSG00000095110	ENST00000536271;ENST00000251921;ENST00000424269	T;T;T	0.27104	1.69;1.69;1.69	4.64	3.49	0.39957	.	0.000000	0.64402	D	0.000001	T	0.53706	0.1813	M	0.89534	3.04	0.33601	D	0.602277	D	0.71674	0.998	D	0.70935	0.971	T	0.69702	-0.5074	10	0.56958	D	0.05	.	10.2768	0.43515	0.8519:0.0:0.0:0.1481	.	493	Q8N323	FA55A_HUMAN	L	209;351;493	ENSP00000445200:F209L;ENSP00000251921:F351L;ENSP00000411690:F493L	ENSP00000251921:F351L	F	-	1	0	FAM55A	113898067	1.000000	0.71417	0.995000	0.50966	0.961000	0.63080	1.386000	0.34419	0.854000	0.35336	0.528000	0.53228	TTC		0.418	NXPE1-201	KNOWN	basic	protein_coding	protein_coding		NM_152315		G	114392857	A	G	114392857	3	3	739	1	0	0	0	0	1	0	0	0	5586	72	3	3	170	3	FAM55A	11	114392857	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	11302183	114392857	20613659	127	43038											
TAPBPL	55080	broad.mit.edu;mdanderson.org	37	12	6567817	6567817	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr12:6567817C>T	ENST00000266556.7	+	5	1076	c.911C>T	c.(910-912)cCt>cTt	p.P304L	TAPBPL_ENST00000544021.1_Silent_p.P185P|TAPBPL_ENST00000545700.1_3'UTR	NM_018009.4	NP_060479.3	Q9BX59	TPSNR_HUMAN	TAP binding protein-like	304	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						CCAGCTTCCCCTAAAGTACGA	0.517																																																0													119	111	114					12																	6567817		2203	4300	6503	SO:0001583	missense	55080			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.911C>T	12.37:g.6567817C>T	ENSP00000266556:p.Pro304Leu		Q9NWB8	Missense_Mutation	SNP	ENST00000266556.7	37	CCDS8546.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.461576	0.63513	.	.	ENSG00000139192	ENST00000266556	T	0.58358	0.34	5.05	5.05	0.67936	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.73938	0.3651	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78099	-0.2336	10	0.87932	D	0	-27.2797	14.2963	0.66316	0.0:1.0:0.0:0.0	.	304	Q9BX59	TPSNR_HUMAN	L	304	ENSP00000266556:P304L	ENSP00000266556:P304L	P	+	2	0	TAPBPL	6438078	0.893000	0.30496	0.994000	0.49952	0.314000	0.28054	2.808000	0.47963	2.521000	0.84997	0.650000	0.86243	CCT		0.517	TAPBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399263.1	NM_018009		T	6567817	C	T	6567817	3	4	739	1	0	0	0	0	1	0	0	0	15558	681	24	2	929	2	TAPBPL	12	6567817	Missense_Mutation	SNP	C	TCGA-KN-8433-01A-11D-2310-10		6567817	127284078	128	43039											
ATN1	1822	mdanderson.org	37	12	7045912	7045912	+	Silent	SNP	G	G	A	rs144280633	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr12:7045912G>A	ENST00000356654.4	+	5	1719	c.1482G>A	c.(1480-1482)caG>caA	p.Q494Q	ATN1_ENST00000396684.2_Silent_p.Q494Q	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	494	Poly-Gln.				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						agcagcagcagcagcagcagc	0.642																																																0													39	49	46					12																	7045912		2183	4256	6439	SO:0001819	synonymous_variant	1822			U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"dentatorubral-pallidoluysian atrophy (atrophin-1)"	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.1482G>A	12.37:g.7045912G>A			Q99495|Q99621|Q9UEK7	Silent	SNP	ENST00000356654.4	37	CCDS31734.1																																																																																				0.642	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		A	7045912	G	A	7045912	2	1	739	1	0	0	0	0	0	0	0	1	1111	962	34	2		2	ATN1	12	7045912	Silent	SNP	G	TCGA-KN-8433-01A-11D-2310-10	478095	7045912	126805983	129	43040											
PRB2	653247	mdanderson.org	37	12	11546764	11546764	+	Missense_Mutation	SNP	G	G	T	rs201994479	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr12:11546764G>T	ENST00000389362.4	-	3	283	c.248C>A	c.(247-249)cCa>cAa	p.P83Q	PRB2_ENST00000545829.1_5'Flank|PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	83	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GCCTCCTTGTGGGGGTGGTCC	0.617													G|||	2	0.000399361	0.0015	0.0	5008	,	,		18324	0.0		0.0	False		,,,				2504	0.0															0													126	144	138					12																	11546764		2136	4201	6337	SO:0001583	missense	653247			K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.248C>A	12.37:g.11546764G>T	ENSP00000374013:p.Pro83Gln		O00599|P02811|P04281	Missense_Mutation	SNP	ENST00000389362.4	37	CCDS41757.2	.	.	.	.	.	.	.	.	.	.	.	5.566	0.289209	0.10513	.	.	ENSG00000121335	ENST00000389362	T	0.05081	3.5	1.52	-3.05	0.05396	.	.	.	.	.	T	0.04182	0.0116	L	0.58810	1.83	0.24408	N	0.994672	P	0.39094	0.659	B	0.24394	0.053	T	0.28427	-1.0044	9	0.24483	T	0.36	.	3.2388	0.06773	0.1674:0.0:0.4493:0.3833	.	83	P02812	PRB2_HUMAN	Q	83	ENSP00000374013:P83Q	ENSP00000374013:P83Q	P	-	2	0	PRB2	11438031	0.077000	0.21312	0.033000	0.17914	0.073000	0.16967	-0.297000	0.08276	-1.559000	0.01688	-1.417000	0.01113	CCA		0.617	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		T	11546764	G	T	11546764	3	4	739	1	0	0	0	0	1	0	0	0	12448	1348	47	4	1006	4	PRB2	12	11546764	Missense_Mutation	SNP	G	TCGA-KN-8433-01A-11D-2310-10	4500852	11546764	122305131	130	43041											
WBP11	51729	mdanderson.org	37	12	14940061	14940061	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr12:14940061A>G	ENST00000261167.2	-	12	2097	c.1864T>C	c.(1864-1866)Tca>Cca	p.S622P		NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	622					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein phosphatase type 1 regulator activity (GO:0008599)|single-stranded DNA binding (GO:0003697)|WW domain binding (GO:0050699)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						GTTTGTACTGAGACAGGAACA	0.468																																																0													61	60	60					12																	14940061		2203	4298	6501	SO:0001583	missense	51729			AB029309	CCDS8666.1	12p12.3	2014-06-13			ENSG00000084463	ENSG00000084463			16461	protein-coding gene	gene with protein product	"splicing factor, PQBP1 and PP1 interacting", "protein phosphatase 1, regulatory subunit 165"					10593949	Standard	NM_016312		Approved	NPWBP, SIPP1, PPP1R165	uc001rci.3	Q9Y2W2	OTTHUMG00000168737	ENST00000261167.2:c.1864T>C	12.37:g.14940061A>G	ENSP00000261167:p.Ser622Pro		Q96AY8	Missense_Mutation	SNP	ENST00000261167.2	37	CCDS8666.1	.	.	.	.	.	.	.	.	.	.	A	11.77	1.737614	0.30774	.	.	ENSG00000084463	ENST00000261167;ENST00000537574	.	.	.	5.1	3.95	0.45737	.	0.357152	0.25478	N	0.030384	T	0.39545	0.1082	L	0.38838	1.175	0.32352	N	0.558285	B	0.30824	0.296	B	0.38156	0.266	T	0.51108	-0.8747	9	0.52906	T	0.07	-15.5057	6.5889	0.22636	0.8174:0.0:0.1826:0.0	.	622	Q9Y2W2	WBP11_HUMAN	P	622;588	.	ENSP00000261167:S622P	S	-	1	0	WBP11	14831328	0.999000	0.42202	0.863000	0.33907	0.986000	0.74619	2.169000	0.42434	0.971000	0.38288	-0.290000	0.09829	TCA		0.468	WBP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400850.1	NM_016312		G	14940061	A	G	14940061	3	3	739	1	0	0	0	0	1	0	0	0	17263	304	11	3	65	3	WBP11	12	14940061	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	3393297	14940061	118911834	131	43042											
KLHDC5	57542	mdanderson.org	37	12	27934040	27934040	+	Silent	SNP	C	C	T	rs538490560		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr12:27934040C>T	ENST00000381271.2	+	1	1088	c.777C>T	c.(775-777)ggC>ggT	p.G259G	RP11-860B13.1_ENST00000545904.1_RNA	NM_020782.1	NP_065833.1	Q9P2K6	KLH42_HUMAN	kelch-like family member 42	259					mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of microtubule-based process (GO:0032886)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											TCATAGTGGGCGGGTACAGGA	0.582																																																0													71	60	63					12																	27934040		2203	4300	6503	SO:0001819	synonymous_variant	57542			AB037761	CCDS31763.1	12p11.22	2013-04-24	2013-02-22	2013-01-30	ENSG00000087448	ENSG00000087448		"Kelch-like"	29252	protein-coding gene	gene with protein product			"kelch domain containing 5"	KLHDC5		19261606	Standard	NM_020782		Approved	KIAA1340, Ctb9	uc001rij.3	Q9P2K6	OTTHUMG00000169217	ENST00000381271.2:c.777C>T	12.37:g.27934040C>T			Q2VPK1|Q8N334	Silent	SNP	ENST00000381271.2	37	CCDS31763.1	.	.	.	.	.	.	.	.	.	.	C	10.74	1.435082	0.25813	.	.	ENSG00000087448	ENST00000543254	.	.	.	4.73	-0.46	0.12175	.	.	.	.	.	T	0.40322	0.1112	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24941	-1.0146	4	.	.	.	.	1.426	0.02323	0.2391:0.4129:0.1105:0.2374	.	.	.	.	W	81	.	.	R	+	1	2	KLHDC5	27825307	0.030000	0.19436	0.998000	0.56505	0.995000	0.86356	-0.824000	0.04438	0.065000	0.16485	0.586000	0.80456	CGG		0.582	KLHL42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402904.1	NM_020782		T	27934040	C	T	27934040	2	4	739	1	0	0	0	0	0	0	0	1	8361	755	27	1		1	KLHDC5	12	27934040	Silent	SNP	C	TCGA-KN-8433-01A-11D-2310-10	12993979	27934040	105917855	132	43043											
TMEM117	84216	mdanderson.org	37	12	44338122	44338122	+	Silent	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr12:44338122T>C	ENST00000266534.3	+	3	514	c.387T>C	c.(385-387)atT>atC	p.I129I	TMEM117_ENST00000536799.1_Missense_Mutation_p.S59P|TMEM117_ENST00000551577.1_Silent_p.I129I	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	129						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		ACAACACGATTCTTCTAATGG	0.363																																																0													220	204	209					12																	44338122		2203	4300	6503	SO:0001819	synonymous_variant	84216			BC060798	CCDS8745.1, CCDS73462.1	12q12	2006-02-03				ENSG00000139173			25308	protein-coding gene	gene with protein product						11230166	Standard	NM_001286211		Approved	DKFZp434K2435	uc001rod.3	Q9H0C3	OTTHUMG00000169427	ENST00000266534.3:c.387T>C	12.37:g.44338122T>C				Silent	SNP	ENST00000266534.3	37	CCDS8745.1	.	.	.	.	.	.	.	.	.	.	T	14.60	2.583223	0.46006	.	.	ENSG00000139173	ENST00000536799	.	.	.	5.51	4.38	0.52667	.	.	.	.	.	T	0.31949	0.0813	.	.	.	0.25650	N	0.986101	B	0.02656	0.0	B	0.01281	0.0	T	0.27872	-1.0061	7	0.87932	D	0	-9.6711	6.1317	0.20209	0.0:0.2452:0.0:0.7548	.	59	F5H3Q2	.	P	59	.	ENSP00000445243:S59P	S	+	1	0	TMEM117	42624389	1.000000	0.71417	1.000000	0.80357	0.544000	0.35116	1.286000	0.33273	1.041000	0.40125	0.482000	0.46254	TCT		0.363	TMEM117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403969.1	NM_032256		C	44338122	T	C	44338122	2	2	739	1	0	0	0	0	0	0	0	1	16036	1771	62	3		3	TMEM117	12	44338122	Silent	SNP	T	TCGA-KN-8433-01A-11D-2310-10	16404082	44338122	89513773	133	43044											
ENDOU	8909	mdanderson.org	37	12	48104619	48104619	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr12:48104619T>C	ENST00000422538.3	-	10	1321	c.1199A>G	c.(1198-1200)tAc>tGc	p.Y400C	RP1-197B17.3_ENST00000547799.1_lincRNA|ENDOU_ENST00000229003.3_Missense_Mutation_p.Y359C|ENDOU_ENST00000545824.2_Missense_Mutation_p.Y337C|ENDOU_ENST00000542202.1_Silent_p.V118V	NM_001172439.1	NP_001165910.1	P21128	ENDOU_HUMAN	endonuclease, polyU-specific	400					female pregnancy (GO:0007565)|immune response (GO:0006955)|proteolysis (GO:0006508)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endoribonuclease activity (GO:0004521)|growth factor activity (GO:0008083)|manganese ion binding (GO:0030145)|polysaccharide binding (GO:0030247)|RNA binding (GO:0003723)|scavenger receptor activity (GO:0005044)|serine-type peptidase activity (GO:0008236)			autonomic_ganglia(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(3)|pancreas(1)|stomach(1)	14						TGTGGCGATGTACTTCTTGCC	0.517																																																0													225	186	199					12																	48104619		2203	4300	6503	SO:0001583	missense	8909			M32402	CCDS8754.1, CCDS53784.1, CCDS53785.1	12q13.1	2011-08-31			ENSG00000111405	ENSG00000111405		"Serine peptidases / Serine peptidases"	14369	protein-coding gene	gene with protein product		606720				2350438, 1710108, 15755742, 18936097	Standard	NM_006025		Approved	PP11, P11, PRSS26	uc001rpu.2	P21128	OTTHUMG00000169670	ENST00000422538.3:c.1199A>G	12.37:g.48104619T>C	ENSP00000397679:p.Tyr400Cys		B2RBJ3|B3KQS7|B7Z6E1|Q2NKJ4	Missense_Mutation	SNP	ENST00000422538.3	37	CCDS53785.1	.	.	.	.	.	.	.	.	.	.	T	18.83	3.708021	0.68615	.	.	ENSG00000111405	ENST00000229003;ENST00000422538;ENST00000545824	T;T	0.32988	1.43;1.45	6.06	3.53	0.40419	.	0.161948	0.56097	D	0.000033	T	0.44307	0.1287	L	0.49571	1.57	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.80764	0.987;0.959;0.994	T	0.22661	-1.0210	10	0.40728	T	0.16	-26.5326	8.6899	0.34260	0.4249:0.0:0.0:0.5751	.	337;400;359	P21128-3;P21128;P21128-2	.;ENDOU_HUMAN;.	C	359;400;337	ENSP00000229003:Y359C;ENSP00000397679:Y400C	ENSP00000229003:Y359C	Y	-	2	0	ENDOU	46390886	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.116000	0.31221	1.074000	0.40909	0.533000	0.62120	TAC		0.517	ENDOU-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000405352.1	NM_006025.2		C	48104619	T	C	48104619	3	2	739	1	0	0	0	0	1	0	0	0	5118	1638	57	3	37	3	ENDOU	12	48104619	Missense_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10	3766497	48104619	85747276	134	43045											
ARF3	377	broad.mit.edu	37	12	49332755	49332756	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr12:49332755_49332756insC	ENST00000256682.4	-	5	854_855	c.520_521insG	c.(520-522)gccfs	p.A174fs	ARF3_ENST00000447318.2_Frame_Shift_Ins_p.A137fs|ARF3_ENST00000541959.1_Frame_Shift_Ins_p.A174fs|AC073610.5_ENST00000537495.1_Frame_Shift_Ins_p.A49fs|ARF3_ENST00000541967.1_5'Flank|RP11-302B13.5_ENST00000398092.4_Intron	NM_001659.2	NP_001650.1	P61204	ARF3_HUMAN	ADP-ribosylation factor 3	174					GTP catabolic process (GO:0006184)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|lung(2)|skin(1)	4						GAGCTGATTGGCCAGCCAGTCC	0.584																																					Pancreas(189;1862 2134 4419 30933 49364)											0																																										SO:0001589	frameshift_variant	377			M74491	CCDS8774.1	12q13.12	2013-01-22			ENSG00000134287	ENSG00000134287		"ADP-ribosylation factors"	654	protein-coding gene	gene with protein product	"small GTP binding protein"	103190				8661066	Standard	NM_001659		Approved		uc001rsr.2	P61204	OTTHUMG00000168080	ENST00000256682.4:c.521dupG	12.37:g.49332757_49332757dupC	ENSP00000256682:p.Ala174fs		A8K6G8|B7ZB63|P16587	Frame_Shift_Ins	INS	ENST00000256682.4	37	CCDS8774.1																																																																																				0.584	ARF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258242.2	NM_001659		C	49332756	-	C	49332755	7	5	739	1	0	1	1	0	0	0	0	0	845	1203	42	0	28	0	ARF3	12	49332755	Frame_Shift_Ins	INS	-	TCGA-KN-8433-01A-11D-2310-10	1228136	49332755	84519140	135	43046											
KRT80	144501	mdanderson.org	37	12	52574312	52574312	+	Silent	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr12:52574312T>C	ENST00000394815.2	-	4	748	c.651A>G	c.(649-651)aaA>aaG	p.K217K	KRT80_ENST00000313234.5_Silent_p.K217K	NM_182507.2	NP_872313.2	Q6KB66	K2C80_HUMAN	keratin 80	217	Coil 1B.|Rod.					cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		CATAGATGGTTTTCATCAACT	0.542																																					GBM(178;2309 2916 15678 35873)											0													156	159	158					12																	52574312		2203	4300	6503	SO:0001819	synonymous_variant	144501			BX537567	CCDS8821.2, CCDS41784.1	12q13.13	2013-01-16			ENSG00000167767	ENSG00000167767		"-", "Intermediate filaments type II, keratins (basic)"	27056	protein-coding gene	gene with protein product		611161				16831889	Standard	NM_001081492		Approved	KB20	uc001rzx.3	Q6KB66	OTTHUMG00000150193	ENST00000394815.2:c.651A>G	12.37:g.52574312T>C			Q6P1A5|Q7Z3Q0	Silent	SNP	ENST00000394815.2	37	CCDS8821.2																																																																																				0.542	KRT80-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316757.1	NM_182507		C	52574312	T	C	52574312	2	2	739	1	0	0	0	0	0	0	0	1	8496	1838	64	3		3	KRT80	12	52574312	Silent	SNP	T	TCGA-KN-8433-01A-11D-2310-10	3241557	52574312	81277583	136	43047											
KRT81	3887	mdanderson.org	37	12	52681460	52681460	+	Missense_Mutation	SNP	G	G	A	rs4761786	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr12:52681460G>A	ENST00000327741.5	-	6	1014	c.946C>T	c.(946-948)Cgc>Tgc	p.R316C	KRT86_ENST00000423955.2_Intron|KRT86_ENST00000544024.1_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	316	Coil 2.|Rod.		R -> C (in dbSNP:rs4761786).			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)		TTGGTGCGGCGCAGGGTCTCC	0.592													.|||	26	0.00519169	0.0	0.0043	5008	,	,		19481	0.0		0.0209	False		,,,				2504	0.002															0								G	CYS/ARG	7,4399	11.4+/-27.6	0,7,2196	89	75	80		946	3.8	1	12	dbSNP_111	80	72,8520	43.1+/-100.9	1,70,4225	no	missense	KRT81	NM_002281.3	180	1,77,6421	AA,AG,GG		0.838,0.1589,0.6078	probably-damaging	316/506	52681460	79,12919	2203	4296	6499	SO:0001583	missense	3887			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.946C>T	12.37:g.52681460G>A	ENSP00000369349:p.Arg316Cys		Q14846|Q16274|Q17R48|Q8WU52|Q9BR74	Missense_Mutation	SNP	ENST00000327741.5	37	CCDS31805.1	19	0.0086996336996337	0	0.0	1	0.0027624309392265192	0	0.0	18	0.023746701846965697	G	17.75	3.466900	0.63625	0.001589	0.00838	ENSG00000205426	ENST00000327741;ENST00000389388	D	0.90197	-2.63	4.7	3.79	0.43588	Filament (1);	0.000000	0.44688	U	0.000421	D	0.92404	0.7589	M	0.91663	3.23	0.46279	D	0.998961	D	0.89917	1.0	D	0.79108	0.992	D	0.92586	0.6079	10	0.66056	D	0.02	.	13.1775	0.59635	0.0794:0.0:0.9206:0.0	rs4761786	316	Q14533	KRT81_HUMAN	C	316	ENSP00000369349:R316C	ENSP00000369349:R316C	R	-	1	0	KRT81	50967727	0.001000	0.12720	1.000000	0.80357	0.997000	0.91878	0.975000	0.29449	2.139000	0.66308	0.561000	0.74099	CGC		0.592	KRT81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395128.2	NM_002281		A	52681460	G	A	52681460	3	1	739	1	0	0	0	0	1	0	0	0	8497	1087	38	1	587	1	KRT81	12	52681460	Missense_Mutation	SNP	G	TCGA-KN-8433-01A-11D-2310-10	107148	52681460	81170435	137	43048											
GRIP1	23426	mdanderson.org	37	12	66786508	66786508	+	Silent	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr12:66786508A>G	ENST00000398016.3	-	17	2130	c.2062T>C	c.(2062-2064)Tta>Cta	p.L688L	GRIP1_ENST00000286445.7_Silent_p.L740L|GRIP1_ENST00000359742.4_Silent_p.L740L|GRIP1_ENST00000542021.1_5'Flank	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		GCCATCTGTAACAAATGGATG	0.438																																																0													164	152	156					12																	66786508		1882	4113	5995	SO:0001819	synonymous_variant	23426			AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.2062T>C	12.37:g.66786508A>G			B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Silent	SNP	ENST00000398016.3	37	CCDS41807.1																																																																																				0.438	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2			G	66786508	A	G	66786508	2	3	739	1	0	0	0	0	0	0	0	1	6789	40	2	3		3	GRIP1	12	66786508	Silent	SNP	A	TCGA-KN-8433-01A-11D-2310-10	14105048	66786508	67065387	138	43049											
THAP2	83591	ucsc.edu	37	12	72067994	72067994	+	Missense_Mutation	SNP	A	A	T			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr12:72067994A>T	ENST00000308086.2	+	2	1584	c.83A>T	c.(82-84)gAt>gTt	p.D28V	RP11-293I14.2_ENST00000548802.1_Missense_Mutation_p.D4V	NM_031435.3	NP_113623.1	Q9H0W7	THAP2_HUMAN	THAP domain containing, apoptosis associated protein 2	28						nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	10						TTTCCTTTGGATCCTAAAAGA	0.343																																																0													51	53	52					12																	72067994		2203	4300	6503	SO:0001583	missense	83591			BC008358	CCDS9001.1	12q21.1	2013-01-25				ENSG00000173451		"THAP (C2CH-type zinc finger) domain containing"	20854	protein-coding gene	gene with protein product		612531				12575992	Standard	NM_031435		Approved	DKFZP564I0422	uc001swq.3	Q9H0W7	OTTHUMG00000169556	ENST00000308086.2:c.83A>T	12.37:g.72067994A>T	ENSP00000310796:p.Asp28Val		B2R8P3	Missense_Mutation	SNP	ENST00000308086.2	37	CCDS9001.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.044273	0.75732	.	.	ENSG00000173451	ENST00000308086	D	0.97161	-4.27	5.62	5.62	0.85841	Zinc finger, C2CH-type (4);	0.077148	0.50627	D	0.000112	D	0.97639	0.9226	L	0.58428	1.81	0.80722	D	1	D	0.63046	0.992	D	0.65443	0.935	D	0.98304	1.0520	10	0.87932	D	0	.	13.7768	0.63059	1.0:0.0:0.0:0.0	.	28	Q9H0W7	THAP2_HUMAN	V	28	ENSP00000310796:D28V	ENSP00000310796:D28V	D	+	2	0	THAP2	70354261	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.224000	0.51238	2.151000	0.67156	0.482000	0.46254	GAT		0.343	THAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404796.1	NM_031435		T	72067994	A	T	72067994	3	4	739	1	0	0	0	0	1	0	0	0	15849	333	12	5	89	5	THAP2	12	72067994	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	5281486	72067994	61783901	139	43050											
ACSS3	79611	mdanderson.org	37	12	81503481	81503481	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr12:81503481C>T	ENST00000548058.1	+	2	1364	c.454C>T	c.(454-456)Cag>Tag	p.Q152*	RP11-543H12.1_ENST00000547123.1_RNA|ACSS3_ENST00000261206.3_Nonsense_Mutation_p.Q151*			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	152						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						AGTTCTGGAGCAGGTAATATC	0.303																																																0													65	66	66					12																	81503481		2202	4300	6502	SO:0001587	stop_gained	79611				CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"Acyl-CoA synthetase family"	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.454C>T	12.37:g.81503481C>T	ENSP00000449535:p.Gln152*		Q8NC66	Nonsense_Mutation	SNP	ENST00000548058.1	37	CCDS9022.1	.	.	.	.	.	.	.	.	.	.	C	38	7.006905	0.97998	.	.	ENSG00000111058	ENST00000549175;ENST00000548058;ENST00000261206	.	.	.	6.07	6.07	0.98685	.	0.051372	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-20.5427	19.4308	0.94765	0.0:1.0:0.0:0.0	.	.	.	.	X	44;152;151	.	ENSP00000261206:Q151X	Q	+	1	0	ACSS3	80027612	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.879000	0.48522	2.885000	0.99019	0.655000	0.94253	CAG		0.303	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407794.1	NM_024560		T	81503481	C	T	81503481	4	4	739	1	0	0	0	0	0	1	0	0	190	711	25	2	460	2	ACSS3	12	81503481	Nonsense_Mutation	SNP	C	TCGA-KN-8433-01A-11D-2310-10	9435487	81503481	52348414	140	43051											
PLXNC1	10154	mdanderson.org	37	12	94676121	94676121	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr12:94676121T>C	ENST00000258526.4	+	23	4072	c.3823T>C	c.(3823-3825)Tcc>Ccc	p.S1275P	RP11-1105G2.3_ENST00000547927.1_Intron|PLXNC1_ENST00000545312.1_Missense_Mutation_p.S14P|RP11-1105G2.3_ENST00000551941.1_5'Flank|PLXNC1_ENST00000547057.1_Missense_Mutation_p.S322P	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	1275					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						CATCGACAGTTCCTCCGTGAT	0.438																																																0													141	131	134					12																	94676121		2203	4300	6503	SO:0001583	missense	10154			AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"CD molecules", "Plexins"	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.3823T>C	12.37:g.94676121T>C	ENSP00000258526:p.Ser1275Pro		Q59H25	Missense_Mutation	SNP	ENST00000258526.4	37	CCDS9049.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.973270	0.74246	.	.	ENSG00000136040	ENST00000258526;ENST00000547057;ENST00000545312	T;T;T	0.11930	2.73;2.73;2.73	5.92	5.92	0.95590	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.103828	0.64402	D	0.000005	T	0.28566	0.0707	L	0.42245	1.32	0.43330	D	0.995366	D;D	0.76494	0.982;0.999	P;D	0.66847	0.584;0.947	T	0.00607	-1.1647	10	0.41790	T	0.15	.	14.9345	0.70944	0.0:0.0:0.0:1.0	.	322;1275	B4DHQ7;O60486	.;PLXC1_HUMAN	P	1275;322;14	ENSP00000258526:S1275P;ENSP00000446720:S322P;ENSP00000439225:S14P	ENSP00000258526:S1275P	S	+	1	0	PLXNC1	93200252	0.992000	0.36948	0.780000	0.31762	0.778000	0.44026	3.528000	0.53524	2.270000	0.75569	0.459000	0.35465	TCC		0.438	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2			C	94676121	T	C	94676121	3	2	739	1	0	0	0	0	1	0	0	0	12128	1783	62	3	3913	3	PLXNC1	12	94676121	Missense_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10	13172640	94676121	39175774	141	43052											
TMEM132B	114795	broad.mit.edu;mdanderson.org	37	12	126138173	126138173	+	Silent	SNP	C	C	T	rs368152539		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr12:126138173C>T	ENST00000299308.3	+	9	2162	c.2154C>T	c.(2152-2154)taC>taT	p.Y718Y	TMEM132B_ENST00000535886.1_Silent_p.Y230Y	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	718						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)		TAGACATTTACGATCCTAAGG	0.403																																																0								C		0,3812		0,0,1906	120	115	117		2154	-5.7	0.3	12		117	2,8228		0,2,4113	no	coding-synonymous	TMEM132B	NM_052907.2		0,2,6019	TT,TC,CC		0.0243,0.0,0.0166		718/1079	126138173	2,12040	1906	4115	6021	SO:0001819	synonymous_variant	114795			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.2154C>T	12.37:g.126138173C>T			A2RRG8|Q8NA73|Q96JN9|Q96PY1	Silent	SNP	ENST00000299308.3	37	CCDS41859.1																																																																																				0.403	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		T	126138173	C	T	126138173	2	4	739	1	0	0	0	0	0	0	0	1	16051	547	19	1		1	TMEM132B	12	126138173	Silent	SNP	C	TCGA-KN-8433-01A-11D-2310-10	31462052	126138173	7713722	142	43053											
TPTE2	93492	mdanderson.org	37	13	20056686	20056686	+	Splice_Site	SNP	T	T	C	rs201542496		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	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_ENST00000382978.1_Splice_Site_p.M41V|TPTE2_ENST00000400103.2_Splice_Site_p.M41V|TPTE2_ENST00000382975.4_Splice_Site_p.M41V|TPTE2_ENST00000457266.2_Splice_Site_p.M41V|TPTE2_ENST00000255310.6_Intron|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																																																0													47	46	47					13																	20056686		2202	4298	6500	SO:0001630	splice_region_variant	93492			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			A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	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	C	20056686	T	C	20056686	5	2	739	1	0	0	0	0	0	0	1	0	16436	1420	49	3	1515	3	TPTE2	13	20056686	Splice_Site	SNP	T	TCGA-KN-8433-01A-11D-2310-10		20056686	95113192	143	43054											
FGF9	2254	mdanderson.org	37	13	22275358	22275358	+	Silent	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr13:22275358A>G	ENST00000382353.5	+	3	941	c.411A>G	c.(409-411)agA>agG	p.R137R	FGF9_ENST00000478546.1_3'UTR	NM_002010.2	NP_002001.1	P31371	FGF9_HUMAN	fibroblast growth factor 9	137					angiogenesis (GO:0001525)|cell-cell signaling (GO:0007267)|chondrocyte differentiation (GO:0002062)|embryonic digestive tract development (GO:0048566)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system development (GO:0048706)|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 morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|male gonad development (GO:0008584)|male sex determination (GO:0030238)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|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 division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein import into nucleus (GO:0006606)|regulation of timing of cell differentiation (GO:0048505)|signal transduction (GO:0007165)|substantia nigra development (GO:0021762)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2)	9		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)		GTGTATTCAGAGAACAGTTCG	0.383																																					Melanoma(195;1939 2127 12623 13963 52730)											0													66	60	62					13																	22275358		2203	4300	6503	SO:0001819	synonymous_variant	2254			D14838	CCDS9298.1	13q11-q12	2014-01-30	2013-06-18		ENSG00000102678	ENSG00000102678		"Endogenous ligands"	3687	protein-coding gene	gene with protein product	"glia-activating factor"	600921	"fibroblast growth factor 9 (glia-activating factor)"			8321227	Standard	NM_002010		Approved		uc001uog.2	P31371	OTTHUMG00000017412	ENST00000382353.5:c.411A>G	13.37:g.22275358A>G			A8K427|Q3SY32	Silent	SNP	ENST00000382353.5	37	CCDS9298.1																																																																																				0.383	FGF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046002.2			G	22275358	A	G	22275358	2	3	739	1	0	0	0	0	0	0	0	1	5861	301	11	3		3	FGF9	13	22275358	Silent	SNP	A	TCGA-KN-8433-01A-11D-2310-10	2218672	22275358	92894520	144	43055											
PABPC3	5042	mdanderson.org	37	13	25671967	25671967	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr13:25671967G>T	ENST00000281589.3	+	1	1668	c.1631G>T	c.(1630-1632)aGg>aTg	p.R544M		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	544	PABC. {ECO:0000255|PROSITE- ProRule:PRU00641}.				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)		ACTGCCTCCAGGTTGGCATCT	0.473																																																0													103	96	98					13																	25671967		2203	4300	6503	SO:0001583	missense	5042			AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"RNA binding motif (RRM) containing"	8556	protein-coding gene	gene with protein product	"testis PABP"	604680	"poly(A)-binding protein, cytoplasmic 3"	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1631G>T	13.37:g.25671967G>T	ENSP00000281589:p.Arg544Met		Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.144124	0.00029	.	.	ENSG00000151846	ENST00000281589	T	0.39229	1.09	0.875	-0.617	0.11579	Polyadenylate-binding protein/Hyperplastic disc protein (4);	0.097289	0.41823	N	0.000817	T	0.04724	0.0128	N	0.00020	-2.765	0.22489	N	0.99906	B	0.02656	0.0	B	0.01281	0.0	T	0.44742	-0.9308	10	0.02654	T	1	.	5.0095	0.14304	0.0:0.0:0.3097:0.6903	.	544	Q9H361	PABP3_HUMAN	M	544	ENSP00000281589:R544M	ENSP00000281589:R544M	R	+	2	0	PABPC3	24569967	1.000000	0.71417	0.879000	0.34478	0.018000	0.09664	3.843000	0.55865	-0.179000	0.10654	-0.875000	0.02981	AGG		0.473	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		T	25671967	G	T	25671967	3	4	739	1	0	0	0	0	1	0	0	0	11367	1000	35	4	1633	4	PABPC3	13	25671967	Missense_Mutation	SNP	G	TCGA-KN-8433-01A-11D-2310-10	3396609	25671967	89497911	145	43056											
OR4N2	390429	mdanderson.org	37	14	20296208	20296208	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr14:20296208T>C	ENST00000315947.1	+	1	601	c.601T>C	c.(601-603)Ttc>Ctc	p.F201L	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	201						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(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTGATGGTCTTCAACAGTGG	0.507																																																0													145	144	144					14																	20296208		2203	4300	6503	SO:0001583	missense	390429				CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"GPCR / Class A : Olfactory receptors"	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.601T>C	14.37:g.20296208T>C	ENSP00000319601:p.Phe201Leu		Q6IEY9|Q6IFA2	Missense_Mutation	SNP	ENST00000315947.1	37	CCDS32022.1	.	.	.	.	.	.	.	.	.	.	.	13.47	2.246339	0.39697	.	.	ENSG00000176294	ENST00000315947	T	0.00123	8.7	4.52	3.28	0.37604	GPCR, rhodopsin-like superfamily (1);	0.125811	0.36703	N	0.002455	T	0.00073	0.0002	N	0.04148	-0.265	0.09310	N	1	B	0.10296	0.003	B	0.15052	0.012	T	0.39820	-0.9595	10	0.66056	D	0.02	-25.8079	3.5346	0.07789	0.1948:0.1049:0.0:0.7003	.	201	Q8NGD1	OR4N2_HUMAN	L	201	ENSP00000319601:F201L	ENSP00000319601:F201L	F	+	1	0	OR4N2	19366048	0.000000	0.05858	1.000000	0.80357	0.976000	0.68499	0.181000	0.16880	2.008000	0.58898	0.477000	0.44152	TTC		0.507	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			C	20296208	T	C	20296208	3	2	739	1	0	0	0	0	1	0	0	0	11079	1609	56	3	603	3	OR4N2	14	20296208	Missense_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10		20296208	87053332	146	43057											
SLC7A7	9056	mdanderson.org	37	14	23243680	23243680	+	Silent	SNP	T	T	C	rs139619724	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr14:23243680T>C	ENST00000397532.3	-	8	1653	c.1128A>G	c.(1126-1128)gaA>gaG	p.E376E	SLC7A7_ENST00000285850.7_Silent_p.E376E|SLC7A7_ENST00000397528.4_Silent_p.E376E|SLC7A7_ENST00000555702.1_Silent_p.E376E|SLC7A7_ENST00000554517.1_Silent_p.E110E|SLC7A7_ENST00000554061.1_5'UTR|SLC7A7_ENST00000397529.2_Silent_p.E376E			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	376					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)		GGAAGATGTCTTCCACGCACA	0.473																																																0													213	201	205					14																	23243680		2203	4300	6503	SO:0001819	synonymous_variant	9056			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.1128A>G	14.37:g.23243680T>C			B2RAU0|D3DS26|O95984|Q53XC1|Q86U07|Q9P2V5	Silent	SNP	ENST00000397532.3	37	CCDS9574.1																																																																																				0.473	SLC7A7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071636.3			C	23243680	T	C	23243680	2	2	739	1	0	0	0	0	0	0	0	1	14709	1606	56	3		3	SLC7A7	14	23243680	Silent	SNP	T	TCGA-KN-8433-01A-11D-2310-10	2947472	23243680	84105860	147	43058											
ACIN1	22985	ucsc.edu	37	14	23548787	23548787	+	Missense_Mutation	SNP	C	C	T	rs55838227|rs34870944|rs61741619	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr14:23548787C>T	ENST00000262710.1	-	6	2258	c.1931G>A	c.(1930-1932)cGt>cAt	p.R644H	ACIN1_ENST00000555053.1_Missense_Mutation_p.R644H|ACIN1_ENST00000555352.1_5'Flank|ACIN1_ENST00000605057.1_Missense_Mutation_p.R586H|ACIN1_ENST00000457657.1_Missense_Mutation_p.R604H	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	644	Ser-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S643_R644insHS(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TGAACGAGAACGTGAACGTGA	0.488																																																1	Insertion - In frame(1)	upper_aerodigestive_tract(1)											255	224	235					14																	23548787		2203	4300	6503	SO:0001583	missense	22985			AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 152"	604562	"apoptotic chromatin condensation inducer in the nucleus"	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.1931G>A	14.37:g.23548787C>T	ENSP00000262710:p.Arg644His		B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	ENST00000262710.1	37	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.061864	0.76187	.	.	ENSG00000100813	ENST00000262710;ENST00000457657;ENST00000555053	T;T;T	0.30448	2.29;1.53;2.29	5.46	5.46	0.80206	.	0.000000	0.41001	D	0.000979	T	0.42720	0.1215	L	0.27053	0.805	0.36352	D	0.86012	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.79784	0.993;0.984;0.984	T	0.50808	-0.8784	10	0.59425	D	0.04	-1.7144	14.8141	0.70017	0.0:1.0:0.0:0.0	.	644;644;604	G3V3M7;Q9UKV3;E7EQT4	.;ACINU_HUMAN;.	H	644;604;644	ENSP00000262710:R644H;ENSP00000405677:R604H;ENSP00000451328:R644H	ENSP00000262710:R644H	R	-	2	0	ACIN1	22618627	0.999000	0.42202	1.000000	0.80357	0.906000	0.53458	1.398000	0.34554	2.556000	0.86216	0.655000	0.94253	CGT		0.488	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		T	23548787	C	T	23548787	3	4	739	1	0	0	0	0	1	0	0	0	142	536	19	1	2297	1	ACIN1	14	23548787	Missense_Mutation	SNP	C	TCGA-KN-8433-01A-11D-2310-10	305107	23548787	83800753	148	43059											
C14orf126	112487	mdanderson.org	37	14	31926584	31926584	+	Missense_Mutation	SNP	G	G	A	rs17097904	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr14:31926584G>A	ENST00000310850.4	-	1	132	c.16C>T	c.(16-18)Cgg>Tgg	p.R6W	DTD2_ENST00000356180.4_Missense_Mutation_p.R6W|RP11-176H8.1_ENST00000547378.1_Missense_Mutation_p.R6W	NM_080664.2	NP_542395.1	Q96FN9	DTD2_HUMAN	D-tyrosyl-tRNA deacylase 2 (putative)	6			R -> W (in dbSNP:rs17097904).		D-amino acid catabolic process (GO:0019478)	cytoplasm (GO:0005737)	hydrolase activity, acting on ester bonds (GO:0016788)	p.R6W(1)									TGAGGAATCCGGCTACCCTCA	0.697																																																1	Substitution - Missense(1)	skin(1)											12	12	12					14																	31926584		2183	4278	6461	SO:0001583	missense	112487			BC010618	CCDS9643.1	14q12	2012-09-25	2012-09-25	2012-09-25	ENSG00000129480	ENSG00000129480			20277	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 126"	C14orf126			Standard	NM_080664		Approved	MGC9912	uc001wrj.3	Q96FN9	OTTHUMG00000140205	ENST00000310850.4:c.16C>T	14.37:g.31926584G>A	ENSP00000312224:p.Arg6Trp		D3DS87	Missense_Mutation	SNP	ENST00000310850.4	37	CCDS9643.1	.	.	.	.	.	.	.	.	.	.	G	19.08	3.758136	0.69763	.	.	ENSG00000203546;ENSG00000129480;ENSG00000129480	ENST00000547378;ENST00000310850;ENST00000356180	T;T;T	0.55052	0.54;0.71;0.71	4.84	2.97	0.34412	D-Tyr tRNAtyr deacylase-like domain (1);	0.302778	0.30901	N	0.008651	T	0.52419	0.1733	M	0.69823	2.125	0.36855	D	0.888115	D	0.67145	0.996	B	0.43623	0.425	T	0.65220	-0.6221	10	0.87932	D	0	.	11.9711	0.53063	0.0:0.0:0.5428:0.4572	rs17097904	6	Q96FN9	DTD2_HUMAN	W	6	ENSP00000447056:R6W;ENSP00000312224:R6W;ENSP00000348503:R6W	ENSP00000312224:R6W	R	-	1	2	C14orf126;RP11-176H8.1	30996335	0.001000	0.12720	0.005000	0.12908	0.004000	0.04260	0.080000	0.14802	0.618000	0.30179	0.561000	0.74099	CGG		0.697	DTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276614.2	NM_080664		A	31926584	G	A	31926584	3	1	739	1	0	0	0	0	1	0	0	0	1745	1115	39	1	502	1	C14orf126	14	31926584	Missense_Mutation	SNP	G	TCGA-KN-8433-01A-11D-2310-10	8377797	31926584	75422956	149	43060											
LRFN5	145581	mdanderson.org	37	14	42356084	42356084	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr14:42356084A>G	ENST00000298119.4	+	3	1445	c.256A>G	c.(256-258)Aca>Gca	p.T86A	LRFN5_ENST00000554171.1_Missense_Mutation_p.T86A|LRFN5_ENST00000554120.1_Missense_Mutation_p.T86A	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	86						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)		ATCCAGGAATACAATAAGTTT	0.363										HNSCC(30;0.082)																																						0													54	54	54					14																	42356084		2203	4300	6503	SO:0001583	missense	145581			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.256A>G	14.37:g.42356084A>G	ENSP00000298119:p.Thr86Ala		B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	A	16.14	3.037406	0.54896	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	D;D;D	0.91740	-2.9;-2.9;-2.9	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000018	D	0.87168	0.6110	N	0.03608	-0.345	0.58432	D	0.999995	B;P	0.47302	0.225;0.893	B;P	0.53689	0.169;0.732	D	0.87967	0.2734	10	0.33141	T	0.24	.	13.6661	0.62396	1.0:0.0:0.0:0.0	.	86;86	G3V364;Q96NI6	.;LRFN5_HUMAN	A	86	ENSP00000298119:T86A;ENSP00000451897:T86A;ENSP00000451067:T86A	ENSP00000298119:T86A	T	+	1	0	LRFN5	41425834	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	2.098000	0.63641	0.528000	0.53228	ACA		0.363	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		G	42356084	A	G	42356084	3	3	739	1	0	0	0	0	1	0	0	0	8943	391	14	3	258	3	LRFN5	14	42356084	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	10429500	42356084	64993456	150	43061											
SOS2	6655	mdanderson.org	37	14	50597336	50597336	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr14:50597336T>C	ENST00000216373.5	-	20	3494	c.3220A>G	c.(3220-3222)Act>Gct	p.T1074A	SOS2_ENST00000543680.1_Missense_Mutation_p.T1041A	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	1074					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)					TCCAGCTCAGTTTCAGCAATC	0.438																																																0													198	170	180					14																	50597336		2203	4300	6503	SO:0001583	missense	6655			L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11188	protein-coding gene	gene with protein product		601247	"son of sevenless (Drosophilia) homolog 2"			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.3220A>G	14.37:g.50597336T>C	ENSP00000216373:p.Thr1074Ala		B7ZKT6|D3DSB4|Q15503|Q17RN1	Missense_Mutation	SNP	ENST00000216373.5	37	CCDS9697.1	.	.	.	.	.	.	.	.	.	.	T	11.81	1.749831	0.30955	.	.	ENSG00000100485	ENST00000216373;ENST00000543680	T;T	0.78364	-1.17;-1.04	5.62	3.28	0.37604	.	0.205916	0.52532	N	0.000080	T	0.52141	0.1716	N	0.14661	0.345	0.36905	D	0.890584	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.38735	-0.9647	10	0.12103	T	0.63	.	2.0393	0.03546	0.2436:0.3181:0.0:0.4383	.	1041;1074	B7ZKT6;Q07890	.;SOS2_HUMAN	A	1074;1041	ENSP00000216373:T1074A;ENSP00000445328:T1041A	ENSP00000216373:T1074A	T	-	1	0	SOS2	49667086	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	1.618000	0.36954	0.974000	0.38366	0.397000	0.26171	ACT		0.438	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276878.2			C	50597336	T	C	50597336	3	2	739	1	0	0	0	0	1	0	0	0	14943	1725	60	3	794	3	SOS2	14	50597336	Missense_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10	8241252	50597336	56752204	151	43062											
PSMC6	5706	mdanderson.org	37	14	53178163	53178163	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr14:53178163A>G	ENST00000606149.1	+	6	378	c.362A>G	c.(361-363)aAc>aGc	p.N121S	PSMC6_ENST00000445930.2_Missense_Mutation_p.N135S	NM_002806.3	NP_002797.3	P62333	PRS10_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 6	121					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|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)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein binding, bridging (GO:0030674)			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19	Breast(41;0.176)					CTGGTTTATAACATGTCTCAT	0.393																																																0													144	147	146					14																	53178163		2203	4300	6503	SO:0001583	missense	5706				CCDS9710.2	14q22.1	2010-04-21			ENSG00000100519	ENSG00000100519		"Proteasome (prosome, macropain) subunits", "ATPases / AAA-type"	9553	protein-coding gene	gene with protein product		602708				8674546, 9473509	Standard	NM_002806		Approved	p42	uc010tqx.2	P62333	OTTHUMG00000152333	ENST00000606149.1:c.362A>G	14.37:g.53178163A>G	ENSP00000475721:p.Asn121Ser		B2R975|P49719|Q6IBU3|Q92524	Missense_Mutation	SNP	ENST00000606149.1	37		.	.	.	.	.	.	.	.	.	.	A	18.00	3.525329	0.64747	.	.	ENSG00000100519	ENST00000445930	D	0.93604	-3.25	4.84	4.84	0.62591	.	0.270730	0.45867	D	0.000331	D	0.91432	0.7296	M	0.73962	2.25	0.80722	D	1	B;B	0.17852	0.001;0.024	B;B	0.16722	0.007;0.016	D	0.87424	0.2384	10	0.07990	T	0.79	.	14.7652	0.69634	1.0:0.0:0.0:0.0	.	121;101	P62333;B4DR91	PRS10_HUMAN;.	S	135	ENSP00000401802:N135S	ENSP00000401802:N135S	N	+	2	0	PSMC6	52247913	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.847000	0.92166	1.960000	0.56953	0.529000	0.55759	AAC		0.393	PSMC6-018	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470741.1	NM_002806		G	53178163	A	G	53178163	3	3	739	1	0	0	0	0	1	0	0	0	12696	43	2	3	426	3	PSMC6	14	53178163	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	2580827	53178163	54171377	152	43063											
DAAM1	23002	mdanderson.org	37	14	59830429	59830429	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr14:59830429A>G	ENST00000395125.1	+	23	2808	c.2785A>G	c.(2785-2787)Agc>Ggc	p.S929G	DAAM1_ENST00000351081.1_Missense_Mutation_p.S929G|DAAM1_ENST00000553966.1_3'UTR|DAAM1_ENST00000360909.3_Missense_Mutation_p.S919G	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	929	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				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)		GTCTGTTGTCAGCCAGTTCAT	0.463																																																0													132	119	123					14																	59830429		2203	4300	6503	SO:0001583	missense	23002			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.2785A>G	14.37:g.59830429A>G	ENSP00000378557:p.Ser929Gly		Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	ENST00000395125.1	37	CCDS9737.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.152407	0.78001	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000395125	T;T;T	0.19105	2.17;2.17;2.17	5.8	5.8	0.92144	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.25419	0.0618	L	0.48986	1.54	0.80722	D	1	B;B	0.27594	0.177;0.182	B;B	0.35510	0.047;0.204	T	0.04268	-1.0964	10	0.20046	T	0.44	.	16.1606	0.81704	1.0:0.0:0.0:0.0	.	919;929	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	G	919;929;929	ENSP00000354162:S919G;ENSP00000247170:S929G;ENSP00000378557:S929G	ENSP00000247170:S929G	S	+	1	0	DAAM1	58900182	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.227000	0.72691	0.460000	0.39030	AGC		0.463	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992		G	59830429	A	G	59830429	3	3	739	1	0	0	0	0	1	0	0	0	4217	188	7	3	2875	3	DAAM1	14	59830429	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	6652266	59830429	47519111	153	43064											
STON2	85439	mdanderson.org	37	14	81744579	81744579	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr14:81744579A>G	ENST00000267540.2	-	4	1276	c.1076T>C	c.(1075-1077)cTc>cCc	p.L359P	STON2_ENST00000556280.1_5'Flank|STON2_ENST00000555447.1_Missense_Mutation_p.L359P	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	359					hematopoietic progenitor cell differentiation (GO:0002244)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|synaptic vesicle (GO:0008021)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		GATGACAATGAGGGAATCTCT	0.453																																																0													115	119	118					14																	81744579		2203	4300	6503	SO:0001583	missense	85439			AB208948	CCDS9875.1, CCDS58332.1	14q31.1	2007-08-01				ENSG00000140022			30652	protein-coding gene	gene with protein product	"stoned B homolog 2 (Drosophila)"	608467				11381094, 11454741	Standard	NM_033104		Approved	STNB2, STN2	uc001xvk.2	Q8WXE9		ENST00000267540.2:c.1076T>C	14.37:g.81744579A>G	ENSP00000267540:p.Leu359Pro		G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Missense_Mutation	SNP	ENST00000267540.2	37	CCDS9875.1	.	.	.	.	.	.	.	.	.	.	A	14.46	2.543448	0.45280	.	.	ENSG00000140022	ENST00000555447;ENST00000546306;ENST00000267540	T;T	0.14640	2.49;2.49	6.17	6.17	0.99709	.	0.247806	0.36815	N	0.002383	T	0.31104	0.0786	L	0.57536	1.79	0.58432	D	0.999996	D;D	0.76494	0.998;0.999	D;D	0.68943	0.915;0.961	T	0.01762	-1.1279	10	0.59425	D	0.04	-25.5864	11.0511	0.47889	0.9315:0.0:0.0685:0.0	.	359;359	Q8WXE9;G3V2T7	STON2_HUMAN;.	P	359;371;359	ENSP00000450857:L359P;ENSP00000267540:L359P	ENSP00000267540:L359P	L	-	2	0	STON2	80814332	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.298000	0.65710	2.371000	0.80710	0.533000	0.62120	CTC		0.453	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413317.1	NM_033104		G	81744579	A	G	81744579	3	3	739	1	0	0	0	0	1	0	0	0	15323	304	11	3	1647	3	STON2	14	81744579	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	21914150	81744579	25604961	154	43065											
TRIP11	9321	mdanderson.org	37	14	92470021	92470021	+	Silent	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr14:92470021T>C	ENST00000267622.4	-	11	4672	c.4299A>G	c.(4297-4299)aaA>aaG	p.K1433K		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1433					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)		TTTCATTTACTTTGTTAGTGA	0.323			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)		Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	0													101	99	99					14																	92470021		2202	4298	6500	SO:0001819	synonymous_variant	9321			L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.4299A>G	14.37:g.92470021T>C			B2RUT2|O14689|O15154|O95949	Silent	SNP	ENST00000267622.4	37	CCDS9899.1	.	.	.	.	.	.	.	.	.	.	T	2.653	-0.281497	0.05642	.	.	ENSG00000100815	ENST00000554357	.	.	.	5.39	-1.36	0.09085	.	.	.	.	.	T	0.58278	0.2111	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53697	-0.8402	4	.	.	.	.	11.8569	0.52441	0.0:0.1665:0.0:0.8335	.	.	.	.	G	1149	.	.	S	-	1	0	TRIP11	91539774	0.994000	0.37717	0.056000	0.19401	0.516000	0.34256	0.221000	0.17680	-0.510000	0.06523	0.379000	0.24179	AGT		0.323	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			C	92470021	T	C	92470021	2	2	739	1	0	0	0	0	0	0	0	1	16560	1606	56	3		3	TRIP11	14	92470021	Silent	SNP	T	TCGA-KN-8433-01A-11D-2310-10	10725442	92470021	14879519	155	43066											
KIAA1409	57578	mdanderson.org	37	14	94160698	94160698	+	Silent	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr14:94160698T>C	ENST00000393151.2	+	48	7605	c.7605T>C	c.(7603-7605)tgT>tgC	p.C2535C	UNC79_ENST00000555664.1_Silent_p.C2496C|UNC79_ENST00000256339.4_Silent_p.C2358C|UNC79_ENST00000553484.1_Silent_p.C2557C			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2535					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						AAATGGTGTGTCTCCATGTGA	0.373																																																0													179	167	171					14																	94160698		2203	4300	6503	SO:0001819	synonymous_variant	57578			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"KIAA1409"	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.7605T>C	14.37:g.94160698T>C			B5MDL6|Q6ZUT7	Silent	SNP	ENST00000393151.2	37																																																																																					0.373	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		C	94160698	T	C	94160698	2	2	739	1	0	0	0	0	0	0	0	1	8232	1673	58	3		3	KIAA1409	14	94160698	Silent	SNP	T	TCGA-KN-8433-01A-11D-2310-10	1690677	94160698	13188842	156	43067											
DICER1	23405	mdanderson.org	37	14	95557673	95557673	+	Silent	SNP	T	T	C	rs201134588		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr14:95557673T>C	ENST00000526495.1	-	27	5685	c.5394A>G	c.(5392-5394)aaA>aaG	p.K1798K	DICER1_ENST00000556045.1_Silent_p.K696K|DICER1_ENST00000343455.3_Silent_p.K1798K|DICER1_ENST00000541352.1_Intron|DICER1_ENST00000527414.1_Silent_p.K1798K|DICER1_ENST00000393063.1_Silent_p.K1798K|DICER1_ENST00000527416.2_5'Flank			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1798	RNase III 2. {ECO:0000255|PROSITE- ProRule:PRU00177}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TATCCTCTTCTTTCTCTTCAT	0.448			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"dicer 1, ribonuclease type III "		"E, M, O"	0													188	194	192					14																	95557673		2203	4300	6503	SO:0001819	synonymous_variant	23405	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"dicer 1, double-stranded RNA-specific endoribonuclease"	606241	"Dicer1, Dcr-1 homolog (Drosophila)", "multinodular goitre 1"	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.5394A>G	14.37:g.95557673T>C			A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Silent	SNP	ENST00000526495.1	37	CCDS9931.1																																																																																				0.448	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			C	95557673	T	C	95557673	2	2	739	1	0	0	0	0	0	0	0	1	4523	1606	56	3		3	DICER1	14	95557673	Silent	SNP	T	TCGA-KN-8433-01A-11D-2310-10	1396975	95557673	11791867	157	43068											
PPP2R5C	5527	mdanderson.org	37	14	102252425	102252425	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr14:102252425T>C	ENST00000328724.5	+	3	173	c.164T>C	c.(163-165)gTc>gCc	p.V55A	PPP2R5C_ENST00000556068.1_3'UTR|PPP2R5C_ENST00000422945.2_Intron|PPP2R5C_ENST00000554442.1_Missense_Mutation_p.V55A	NM_001161726.1	NP_001155198.1	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma	0					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						AAAGTACCAGTCTCTCAGCCC	0.363																																																0													38	33	34					14																	102252425		1558	3569	5127	SO:0001583	missense	5527			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		ENST00000328724.5:c.164T>C	14.37:g.102252425T>C	ENSP00000329009:p.Val55Ala		B4DYJ8|B5BUA5|F5GWP3|Q14391|Q15060|Q15174|Q6ZN33	Missense_Mutation	SNP	ENST00000328724.5	37	CCDS53911.1	.	.	.	.	.	.	.	.	.	.	T	7.738	0.700743	0.15172	.	.	ENSG00000078304	ENST00000554442;ENST00000328724	T	0.40476	1.03	5.25	-6.75	0.01738	.	2.481240	0.01619	N	0.022907	T	0.25754	0.0627	.	.	.	0.09310	N	1	B;B	0.10296	0.0;0.003	B;B	0.06405	0.001;0.002	T	0.47484	-0.9114	9	0.06891	T	0.86	7.2615	20.3963	0.98984	0.0:0.8656:0.0:0.1344	.	55;55	Q6ZN33;G3V292	.;.	A	55	ENSP00000329009:V55A	ENSP00000329009:V55A	V	+	2	0	PPP2R5C	101322178	0.000000	0.05858	0.000000	0.03702	0.870000	0.49936	-0.663000	0.05299	-1.772000	0.01292	0.459000	0.35465	GTC		0.363	PPP2R5C-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414362.1	NM_002719		C	102252425	T	C	102252425	3	2	739	1	0	0	0	0	1	0	0	0	12399	1667	58	3	174	3	PPP2R5C	14	102252425	Missense_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10	6694752	102252425	5097115	158	43069											
TECPR2	9895	mdanderson.org;bcgsc.ca	37	14	102910140	102910140	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr14:102910140A>G	ENST00000359520.7	+	12	3135	c.2909A>G	c.(2908-2910)gAg>gGg	p.E970G	TECPR2_ENST00000558678.1_Missense_Mutation_p.E970G	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	970					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						CCGGAAGGCGAGCAGTGGAAG	0.592																																																0													77	65	69					14																	102910140		2203	4300	6503	SO:0001583	missense	9895			AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"KIAA0329"	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.2909A>G	14.37:g.102910140A>G	ENSP00000352510:p.Glu970Gly		A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Missense_Mutation	SNP	ENST00000359520.7	37	CCDS32162.1	.	.	.	.	.	.	.	.	.	.	A	33	5.289755	0.95546	.	.	ENSG00000196663	ENST00000359520	T	0.80304	-1.36	5.61	5.61	0.85477	.	0.106561	0.64402	D	0.000007	D	0.82926	0.5143	N	0.19112	0.55	0.58432	D	0.999995	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.81914	0.962;0.994;0.995	D	0.85590	0.1245	10	0.66056	D	0.02	.	16.1025	0.81194	1.0:0.0:0.0:0.0	.	153;970;970	B4DSD3;A5PKY3;O15040	.;.;TCPR2_HUMAN	G	970	ENSP00000352510:E970G	ENSP00000352510:E970G	E	+	2	0	TECPR2	101979893	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.287000	0.95975	2.254000	0.74563	0.533000	0.62120	GAG		0.592	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2	NM_014844		G	102910140	A	G	102910140	3	3	739	1	0	0	0	0	1	0	0	0	15749	304	11	3	2951	3	TECPR2	14	102910140	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	657715	102910140	4439400	159	43070											
AHNAK2	113146	mdanderson.org	37	14	105418149	105418149	+	Silent	SNP	A	A	T	rs147978925	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr14:105418149A>T	ENST00000333244.5	-	7	3758	c.3639T>A	c.(3637-3639)atT>atA	p.I1213I	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1213						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)			AAGGGGGCTGAATGCTGAGGT	0.647													.|||	1170	0.233626	0.0696	0.2882	5008	,	,		15080	0.0635		0.4583	False		,,,				2504	0.3609															0													99	72	81					14																	105418149		1918	3766	5684	SO:0001819	synonymous_variant	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.3639T>A	14.37:g.105418149A>T			Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																				0.647	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		T	105418149	A	T	105418149	2	4	739	1	0	0	0	0	0	0	0	1	415	242	9	5		5	AHNAK2	14	105418149	Silent	SNP	A	TCGA-KN-8433-01A-11D-2310-10	2508009	105418149	1931391	160	43071											
ARHGAP11A	9824	broad.mit.edu	37	15	32908429	32908430	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr15:32908429_32908430insG	ENST00000361627.3	+	1	739_740	c.17_18insG	c.(16-21)ctggtgfs	p.V7fs	ARHGAP11A_ENST00000565905.1_Intron|ARHGAP11A_ENST00000563864.1_Frame_Shift_Ins_p.V7fs|ARHGAP11A_ENST00000567348.1_Frame_Shift_Ins_p.V7fs|RP11-1000B6.5_ENST00000500941.2_lincRNA|ARHGAP11A_ENST00000563330.1_3'UTR|AC123768.4_ENST00000576873.1_lincRNA|ARHGAP11A_ENST00000543522.1_Intron	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	7					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		GATCAGAGGCTGGTGAGGTTGG	0.554																																					Colon(45;757 1134 30003 36652)											0																																										SO:0001589	frameshift_variant	9824			D87717	CCDS10028.1, CCDS58349.1, CCDS66730.1	15q13.3	2006-09-19			ENSG00000198826	ENSG00000198826		"Rho GTPase activating proteins"	15783	protein-coding gene	gene with protein product	"GAP (1-12)"	610589				11829490	Standard	NM_199357		Approved	KIAA0013	uc001zgy.1	Q6P4F7	OTTHUMG00000129289	ENST00000361627.3:c.19dupG	15.37:g.32908431_32908431dupG	ENSP00000355090:p.Val7fs		B4DZN9|Q6PI96|Q9Y3S6	Frame_Shift_Ins	INS	ENST00000361627.3	37	CCDS10028.1																																																																																				0.554	ARHGAP11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251417.1	NM_014783		G	32908430	-	G	32908429	7	5	739	1	0	1	1	0	0	0	0	0	863	1580	55	0	19	0	ARHGAP11A	15	32908429	Frame_Shift_Ins	INS	-	TCGA-KN-8433-01A-11D-2310-10		32908429	69622963	161	43072											
CASC5	57082	mdanderson.org	37	15	40913801	40913801	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr15:40913801A>G	ENST00000346991.5	+	11	1807	c.1417A>G	c.(1417-1419)Aga>Gga	p.R473G	CASC5_ENST00000399668.2_Missense_Mutation_p.R447G|CASC5_ENST00000527044.1_3'UTR			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	473	Interaction with BUB1 and BUB1B.				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)		CTCAAATATGAGAGAGGAGAA	0.328																																																0													67	65	65					15																	40913801		1822	4080	5902	SO:0001583	missense	57082			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.1417A>G	15.37:g.40913801A>G	ENSP00000335463:p.Arg473Gly		Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	ENST00000346991.5	37	CCDS42023.1	.	.	.	.	.	.	.	.	.	.	A	11.97	1.796563	0.31777	.	.	ENSG00000137812	ENST00000346991;ENST00000260369;ENST00000399668	T;T	0.05139	3.49;3.49	5.94	2.3	0.28687	.	1.023320	0.07757	N	0.949536	T	0.06096	0.0158	L	0.35723	1.085	0.09310	N	1	B;B;B	0.15473	0.004;0.004;0.013	B;B;B	0.09377	0.004;0.004;0.004	T	0.41034	-0.9531	10	0.40728	T	0.16	.	5.4785	0.16710	0.5262:0.2673:0.2064:0.0	.	447;473;447	Q8NG31-2;Q8NG31;Q8NG31-4	.;CASC5_HUMAN;.	G	473;447;447	ENSP00000335463:R473G;ENSP00000382576:R447G	ENSP00000260369:R447G	R	+	1	2	CASC5	38701093	0.001000	0.12720	0.969000	0.41365	0.966000	0.64601	0.013000	0.13310	0.490000	0.27771	0.455000	0.32223	AGA		0.328	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508		G	40913801	A	G	40913801	3	3	739	1	0	0	0	0	1	0	0	0	2665	296	11	3	1455	3	CASC5	15	40913801	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	8005372	40913801	61617591	162	43073											
CKMT1B	1159	broad.mit.edu	37	15	43890418	43890419	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr15:43890418_43890419insG	ENST00000441322.1	+	7	1264_1265	c.904_905insG	c.(904-906)tggfs	p.W302fs	CKMT1B_ENST00000300283.6_Frame_Shift_Ins_p.W302fs			P12532	KCRU_HUMAN	creatine kinase, mitochondrial 1B	302	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)			large_intestine(1)|lung(3)|skin(1)	5		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;3.56e-07)	Creatine(DB00148)	AGAACGTGGCTGGGAGTTCATG	0.49																																																0																																										SO:0001589	frameshift_variant	1159			AK094322, J04469	CCDS10097.1	15q15	2005-04-15		2005-04-15	ENSG00000237289	ENSG00000237289	2.7.3.2		1995	protein-coding gene	gene with protein product		123290	"creatine kinase, mitochondrial 1 (ubiquitous)"	CKMT, CKMT1			Standard	XM_005254150		Approved	UMTCK	uc001zsc.3	P12532	OTTHUMG00000059900	ENST00000441322.1:c.907dupG	15.37:g.43890421_43890421dupG	ENSP00000413255:p.Trp302fs		B4DIT8|B7ZA09|Q0VAM3|Q32NF6|Q53FC4	Frame_Shift_Ins	INS	ENST00000441322.1	37	CCDS10097.1																																																																																				0.49	CKMT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133147.2	NM_020990		G	43890419	-	G	43890418	7	5	739	1	0	1	1	0	0	0	0	0	3452	1580	55	0	930	0	CKMT1B	15	43890418	Frame_Shift_Ins	INS	-	TCGA-KN-8433-01A-11D-2310-10	2976617	43890418	58640974	163	43074											
CATSPER2	117155	mdanderson.org	37	15	43928380	43928380	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr15:43928380A>G	ENST00000321596.5	-	8	1079	c.880T>C	c.(880-882)Ttc>Ctc	p.F294L	RNU6-610P_ENST00000384264.1_RNA|CATSPER2_ENST00000355438.2_Missense_Mutation_p.F294L|CATSPER2_ENST00000354127.4_Missense_Mutation_p.F294L|CATSPER2_ENST00000381761.1_Missense_Mutation_p.F300L|CATSPER2_ENST00000396879.1_Missense_Mutation_p.F294L|STRC_ENST00000541030.1_Intron			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	294					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|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)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		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)		TCCAAGGTGAAGAGAATGAAC	0.443																																																0													39	41	40					15																	43928380		2199	4292	6491	SO:0001583	missense	117155			AF411817	CCDS10099.1, CCDS32216.1, CCDS73714.1	15q15.3	2011-07-05			ENSG00000166762	ENSG00000166762		"Voltage-gated ion channels / Cation channels, sperm associated"	18810	protein-coding gene	gene with protein product		607249				11675491, 16382101	Standard	NM_172095		Approved		uc001zsh.3	Q96P56	OTTHUMG00000059902	ENST00000321596.5:c.880T>C	15.37:g.43928380A>G	ENSP00000321463:p.Phe294Leu		Q8NHT9|Q96P54|Q96P55	Missense_Mutation	SNP	ENST00000321596.5	37	CCDS10099.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.089780	0.76756	.	.	ENSG00000166762	ENST00000396879;ENST00000299989;ENST00000381761;ENST00000321596;ENST00000354127;ENST00000355438	D;D;D;D;D	0.97994	-4.65;-4.65;-4.65;-4.65;-4.65	4.81	4.81	0.61882	Ion transport (1);	0.192500	0.36519	N	0.002541	D	0.96494	0.8856	N	0.25286	0.73	0.41527	D	0.98843	D;D	0.54397	0.957;0.966	P;P	0.62560	0.845;0.904	D	0.95517	0.8591	10	0.36615	T	0.2	.	10.6643	0.45721	1.0:0.0:0.0:0.0	.	300;294	F8W9H2;Q96P56	.;CTSR2_HUMAN	L	294;294;300;294;294;294	ENSP00000380088:F294L;ENSP00000371180:F300L;ENSP00000321463:F294L;ENSP00000339137:F294L;ENSP00000347613:F294L	ENSP00000299989:F294L	F	-	1	0	CATSPER2	41715672	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.345000	0.65987	2.013000	0.59113	0.533000	0.62120	TTC		0.443	CATSPER2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133151.2	NM_054020		G	43928380	A	G	43928380	3	3	739	1	0	0	0	0	1	0	0	0	2690	72	3	3	736	3	CATSPER2	15	43928380	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	37962	43928380	58603012	164	43075											
SLC12A1	6557	bcgsc.ca	37	15	48512846	48512846	+	Missense_Mutation	SNP	C	C	A			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr15:48512846C>A	ENST00000558405.1	+	2	450	c.436C>A	c.(436-438)Cca>Aca	p.P146T	SLC12A1_ENST00000561031.1_Missense_Mutation_p.P146T|SLC12A1_ENST00000380993.3_Missense_Mutation_p.P146T|SLC12A1_ENST00000396577.3_Missense_Mutation_p.P146T|SLC12A1_ENST00000330289.6_Missense_Mutation_p.P146T			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	146					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)	GGCAGTCACCCCAAGTTCAGC	0.398																																																0													100	90	93					15																	48512846		2198	4297	6495	SO:0001583	missense	6557				CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"Solute carriers"	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.436C>A	15.37:g.48512846C>A	ENSP00000453409:p.Pro146Thr		A8JYA2|E9PDW4	Missense_Mutation	SNP	ENST00000558405.1	37	CCDS10129.2	.	.	.	.	.	.	.	.	.	.	C	5.880	0.346511	0.11126	.	.	ENSG00000074803	ENST00000380993;ENST00000396577;ENST00000330289	D;D;D	0.96522	-4.04;-4.04;-4.04	6.17	6.17	0.99709	Amino acid permease, N-terminal (1);	0.322058	0.37809	N	0.001923	D	0.92335	0.7568	L	0.36672	1.1	0.23657	N	0.997188	B;B	0.17038	0.02;0.001	B;B	0.17433	0.018;0.004	T	0.79902	-0.1607	10	0.21014	T	0.42	.	10.289	0.43584	0.1452:0.7849:0.0:0.07	.	146;146	Q8IUN5;Q13621	.;S12A1_HUMAN	T	146	ENSP00000370381:P146T;ENSP00000379822:P146T;ENSP00000331550:P146T	ENSP00000331550:P146T	P	+	1	0	SLC12A1	46300138	0.894000	0.30519	0.292000	0.24919	0.238000	0.25445	2.190000	0.42630	2.941000	0.99782	0.655000	0.94253	CCA		0.398	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1			A	48512846	C	A	48512846	3	1	739	1	0	0	0	0	1	0	0	0	14388	623	22	4	442	4	SLC12A1	15	48512846	Missense_Mutation	SNP	C	TCGA-KN-8433-01A-11D-2310-10	4584466	48512846	54018546	165	43076											
LACTB	114294	mdanderson.org	37	15	63419154	63419154	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr15:63419154T>C	ENST00000261893.4	+	3	593	c.521T>C	c.(520-522)cTt>cCt	p.L174P	RPS27L_ENST00000559763.1_Intron|LACTB_ENST00000413507.2_Missense_Mutation_p.L174P	NM_032857.3	NP_116246.2	P83111	LACTB_HUMAN	lactamase, beta	174						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						ATGGTTGCTCTTGCCAAATTG	0.413																																					Melanoma(85;443 1381 6215 27308 35583)											0													115	99	104					15																	63419154		2203	4300	6503	SO:0001583	missense	114294			AK027808	CCDS10182.1, CCDS45275.1	15q22.1	2012-11-14	2001-12-12	2001-12-14	ENSG00000103642	ENSG00000103642		"Mitochondrial ribosomal proteins / large subunits"	16468	protein-coding gene	gene with protein product		608440	"mitochondrial ribosomal protein L56"	MRPL56		11707067	Standard	NM_032857		Approved	FLJ14902	uc002alw.3	P83111	OTTHUMG00000132807	ENST00000261893.4:c.521T>C	15.37:g.63419154T>C	ENSP00000261893:p.Leu174Pro		P83096	Missense_Mutation	SNP	ENST00000261893.4	37	CCDS10182.1	.	.	.	.	.	.	.	.	.	.	T	17.88	3.496750	0.64186	.	.	ENSG00000103642	ENST00000261893;ENST00000413507	T;T	0.52526	0.66;0.66	5.58	5.58	0.84498	Beta-lactamase/transpeptidase-like (2);Beta-lactamase-related (1);	0.425264	0.26828	N	0.022291	T	0.67739	0.2925	M	0.76002	2.32	0.80722	D	1	D	0.63880	0.993	D	0.67725	0.953	T	0.71932	-0.4443	10	0.87932	D	0	-4.3201	14.9367	0.70960	0.0:0.0:0.0:1.0	.	174	P83111	LACTB_HUMAN	P	174	ENSP00000261893:L174P;ENSP00000392956:L174P	ENSP00000261893:L174P	L	+	2	0	LACTB	61206207	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.845000	0.62853	2.126000	0.65437	0.460000	0.39030	CTT		0.413	LACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256224.1	NM_032857		C	63419154	T	C	63419154	3	2	739	1	0	0	0	0	1	0	0	0	8599	1609	56	3	531	3	LACTB	15	63419154	Missense_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10	14906308	63419154	39112238	166	43077											
HERC1	8925	broad.mit.edu	37	15	64017642	64017643	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr15:64017642_64017643insA	ENST00000443617.2	-	18	3503_3504	c.3416_3417insT	c.(3415-3417)gtgfs	p.V1139fs		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1139					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						TTTCTAGATCCACAAGCCATAC	0.485																																																0																																										SO:0001589	frameshift_variant	8925			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.3417dupT	15.37:g.64017643_64017643dupA	ENSP00000390158:p.Val1139fs		Q8IW65	Frame_Shift_Ins	INS	ENST00000443617.2	37	CCDS45277.1																																																																																				0.485	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		A	64017643	-	A	64017642	7	5	739	1	0	1	1	0	0	0	0	0	7059	581	21	0	11412	0	HERC1	15	64017642	Frame_Shift_Ins	INS	-	TCGA-KN-8433-01A-11D-2310-10	598488	64017642	38513750	167	43078											
BBS4	585	mdanderson.org	37	15	73009145	73009145	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr15:73009145C>T	ENST00000268057.4	+	6	400	c.359C>T	c.(358-360)gCc>gTc	p.A120V	BBS4_ENST00000539603.1_Missense_Mutation_p.A108V|BBS4_ENST00000395205.2_Missense_Mutation_p.A128V|BBS4_ENST00000542334.1_5'UTR|BBS4_ENST00000564239.1_3'UTR	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	120	Interaction with PCM1.				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						CATAAAGCTGCCATTGAAGTA	0.313									Bardet-Biedl syndrome																																							0													30	32	31					15																	73009145		2195	4295	6490	SO:0001583	missense	585	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	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.359C>T	15.37:g.73009145C>T	ENSP00000268057:p.Ala120Val		B4E178|Q53DZ5|Q8NHU9|Q96H45	Missense_Mutation	SNP	ENST00000268057.4	37	CCDS10246.1	.	.	.	.	.	.	.	.	.	.	C	32	5.137580	0.94517	.	.	ENSG00000140463	ENST00000268057;ENST00000539603;ENST00000395205	D;D;D	0.89343	-2.5;-2.5;-2.5	5.19	5.19	0.71726	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.94225	0.8146	M	0.74467	2.265	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.995;0.993;0.998	D	0.94821	0.7987	10	0.87932	D	0	-9.8994	17.4905	0.87702	0.0:1.0:0.0:0.0	.	108;128;120	F5H7I8;Q96RK4-2;Q96RK4	.;.;BBS4_HUMAN	V	120;108;128	ENSP00000268057:A120V;ENSP00000442492:A108V;ENSP00000378631:A128V	ENSP00000268057:A120V	A	+	2	0	BBS4	70796198	1.000000	0.71417	0.968000	0.41197	0.961000	0.63080	7.040000	0.76551	2.420000	0.82092	0.591000	0.81541	GCC		0.313	BBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257473.2	NM_033028		T	73009145	C	T	73009145	3	4	739	1	0	0	0	0	1	0	0	0	1339	739	26	2	381	2	BBS4	15	73009145	Missense_Mutation	SNP	C	TCGA-KN-8433-01A-11D-2310-10	8991503	73009145	29522247	168	43079											
ST20	400410	mdanderson.org	37	15	80191332	80191332	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr15:80191332T>C	ENST00000478497.1	-	3	860	c.181A>G	c.(181-183)Acc>Gcc	p.T61A	MTHFS_ENST00000258874.3_5'Flank|ST20-MTHFS_ENST00000479961.1_Intron|ST20_ENST00000485386.1_Missense_Mutation_p.T61A|ST20-MTHFS_ENST00000494999.1_Intron|MTHFS_ENST00000559722.1_5'Flank|ST20_ENST00000562759.1_Missense_Mutation_p.T61A	NM_001100879.1	NP_001094349.1	Q9HBF5	ST20_HUMAN	suppressor of tumorigenicity 20	61					extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)	mitochondrial outer membrane (GO:0005741)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			kidney(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						ATTAGGCCGGTTTCACAATAT	0.383																																																0													117	116	116					15																	80191332		2202	4300	6502	SO:0001583	missense	400410			AF249277	CCDS42067.1	15q25.1	2007-07-16				ENSG00000180953			33520	protein-coding gene	gene with protein product							Standard	NM_001100879		Approved	HCCS-1		Q9HBF5		ENST00000478497.1:c.181A>G	15.37:g.80191332T>C	ENSP00000453502:p.Thr61Ala			Missense_Mutation	SNP	ENST00000478497.1	37	CCDS42067.1	.	.	.	.	.	.	.	.	.	.	T	12.63	1.997085	0.35226	.	.	ENSG00000180953	ENST00000322484;ENST00000417278	.	.	.	2.09	2.09	0.27110	.	.	.	.	.	T	0.22513	0.0543	.	.	.	0.09310	N	1	P	0.35714	0.517	B	0.27500	0.08	T	0.16335	-1.0406	7	0.87932	D	0	.	6.0481	0.19772	0.0:0.0:0.0:1.0	.	61	Q9HBF5	ST20_HUMAN	A	61	.	ENSP00000319125:T61A	T	-	1	0	ST20	77978387	0.726000	0.28059	0.068000	0.19968	0.711000	0.40976	1.510000	0.35790	0.966000	0.38159	0.172000	0.16884	ACC		0.383	ST20-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416728.2			C	80191332	T	C	80191332	3	2	739	1	0	0	0	0	1	0	0	0	15218	1725	60	3	62	3	ST20	15	80191332	Missense_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10	7182187	80191332	22340060	169	43080											
CHSY1	22856	mdanderson.org	37	15	101717680	101717680	+	Silent	SNP	G	G	T	rs8024370	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr15:101717680G>T	ENST00000254190.3	-	3	2797	c.2322C>A	c.(2320-2322)acC>acA	p.T774T	CHSY1_ENST00000543813.1_5'UTR	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	774					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)			CCAGCTGCTGGGTGGACCCAT	0.478													T|||	3805	0.759784	0.8994	0.6412	5008	,	,		18386	0.8958		0.5557	False		,,,				2504	0.7249															0								T		3803,603	262.2+/-264.8	1657,489,57	87	81	83		2322	-9.2	0.7	15	dbSNP_116	83	4843,3757	534.2+/-382.6	1356,2131,813	no	coding-synonymous	CHSY1	NM_014918.4		3013,2620,870	TT,TG,GG		43.686,13.6859,33.523		774/803	101717680	8646,4360	2203	4300	6503	SO:0001819	synonymous_variant	22856			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.2322C>A	15.37:g.101717680G>T			Q6UX38|Q7LFU5|Q9Y2J5	Silent	SNP	ENST00000254190.3	37	CCDS10390.1																																																																																				0.478	CHSY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313624.1	NM_014918		T	101717680	G	T	101717680	2	4	739	1	0	0	0	0	0	0	0	1	3414	1219	43	4		4	CHSY1	15	101717680	Silent	SNP	G	TCGA-KN-8433-01A-11D-2310-10	21526348	101717680	813712	170	43081											
VPS35	55737	mdanderson.org	37	16	46702912	46702912	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr16:46702912C>T	ENST00000299138.7	-	13	1635	c.1577G>A	c.(1576-1578)cGc>cAc	p.R526H		NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	526				R -> G (in Ref. 5; BAA91790). {ECO:0000305}.	cell death (GO:0008219)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|retromer complex (GO:0030904)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CAGTGTGAAGCGAATCCGCTG	0.363																																																0													89	98	95					16																	46702912		2203	4300	6503	SO:0001583	missense	55737			AF175265	CCDS10721.1	16q12	2012-06-27	2006-12-19		ENSG00000069329	ENSG00000069329		"Parkinson disease"	13487	protein-coding gene	gene with protein product		601501	"vacuolar protein sorting 35 (yeast homolog)", "vacuolar protein sorting 35 (yeast)"			11112353, 21763482	Standard	NM_018206		Approved	FLJ10752, MEM3, PARK17	uc002eef.4	Q96QK1	OTTHUMG00000132542	ENST00000299138.7:c.1577G>A	16.37:g.46702912C>T	ENSP00000299138:p.Arg526His		Q561W2|Q9H016|Q9H096|Q9H4P3|Q9H8J0|Q9NRS7|Q9NVG2|Q9NX80|Q9NZK2	Missense_Mutation	SNP	ENST00000299138.7	37	CCDS10721.1	.	.	.	.	.	.	.	.	.	.	.	35	5.579135	0.96565	.	.	ENSG00000069329	ENST00000299138;ENST00000541330	T	0.45668	0.89	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.59500	0.2198	M	0.83603	2.65	0.80722	D	1	D;D	0.63046	0.987;0.992	P;P	0.50490	0.642;0.476	T	0.63681	-0.6582	10	0.44086	T	0.13	-10.298	19.5023	0.95100	0.0:1.0:0.0:0.0	.	526;391	Q96QK1;F5GYF5	VPS35_HUMAN;.	H	526;391	ENSP00000299138:R526H	ENSP00000299138:R526H	R	-	2	0	VPS35	45260413	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.786000	0.85741	2.605000	0.88082	0.591000	0.81541	CGC		0.363	VPS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255742.3			T	46702912	C	T	46702912	3	4	739	1	0	0	0	0	1	0	0	0	17208	768	27	1	833	1	VPS35	16	46702912	Missense_Mutation	SNP	C	TCGA-KN-8433-01A-11D-2310-10		46702912	43651841	171	43082											
SETD6	79918	mdanderson.org	37	16	58549932	58549932	+	Silent	SNP	T	T	C	rs4784046	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr16:58549932T>C	ENST00000219315.4	+	2	315	c.265T>C	c.(265-267)Ttg>Ctg	p.L89L	SETD6_ENST00000418480.1_3'UTR|SETD6_ENST00000394266.4_Silent_p.L65L|SETD6_ENST00000310682.2_Silent_p.L65L			Q8TBK2	SETD6_HUMAN	SET domain containing 6	89	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				negative regulation of NF-kappaB transcription factor activity (GO:0032088)|peptidyl-lysine monomethylation (GO:0018026)|regulation of inflammatory response (GO:0050727)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	NF-kappaB binding (GO:0051059)|protein-lysine N-methyltransferase activity (GO:0016279)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	7						CGGAGAGCTGTTGTTCGTGGT	0.746													C|||	3856	0.769968	0.8041	0.7104	5008	,	,		7610	0.9544		0.5626	False		,,,				2504	0.7894															0								C	,	3001,969		1210,581,194	4	6	5		265,193	5.3	1	16	dbSNP_111	5	4379,3507		1344,1691,908	no	coding-synonymous,coding-synonymous	SETD6	NM_001160305.1,NM_024860.2	,	2554,2272,1102	CC,CT,TT		44.4712,24.4081,37.753	,	89/474,65/450	58549932	7380,4476	1985	3943	5928	SO:0001819	synonymous_variant	79918			AK024801	CCDS10798.1, CCDS54013.1	16q21	2008-02-05			ENSG00000103037	ENSG00000103037			26116	protein-coding gene	gene with protein product						12477932	Standard	NM_024860		Approved	FLJ21148	uc002ens.3	Q8TBK2	OTTHUMG00000150276	ENST00000219315.4:c.265T>C	16.37:g.58549932T>C			A8K380|B5ME38|Q9H787	Silent	SNP	ENST00000219315.4	37	CCDS54013.1																																																																																				0.746	SETD6-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317274.2	NM_024860		C	58549932	T	C	58549932	2	2	739	1	0	0	0	0	0	0	0	1	14141	1722	60	3		3	SETD6	16	58549932	Silent	SNP	T	TCGA-KN-8433-01A-11D-2310-10	11847020	58549932	31804821	172	43083											
LCAT	3931	mdanderson.org	37	16	67974190	67974190	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr16:67974190C>T	ENST00000264005.5	-	6	969	c.940G>A	c.(940-942)Ggc>Agc	p.G314S		NM_000229.1	NP_000220.1	P04180	LCAT_HUMAN	lecithin-cholesterol acyltransferase	314					cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|high-density lipoprotein particle remodeling (GO:0034375)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein metabolic process (GO:0042157)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|regulation of high-density lipoprotein particle assembly (GO:0090107)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)	apolipoprotein A-I binding (GO:0034186)|phosphatidylcholine-sterol O-acyltransferase activity (GO:0004607)			cervix(4)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)		ATGTACCAGCCTTCCTCAAAG	0.587																																																0													104	90	95					16																	67974190		2198	4300	6498	SO:0001583	missense	3931				CCDS10854.1	16q22.1	2012-10-02			ENSG00000213398	ENSG00000213398	2.3.1.43		6522	protein-coding gene	gene with protein product		606967					Standard	NM_000229		Approved		uc002euy.1	P04180	OTTHUMG00000137551	ENST00000264005.5:c.940G>A	16.37:g.67974190C>T	ENSP00000264005:p.Gly314Ser		Q53XQ3	Missense_Mutation	SNP	ENST00000264005.5	37	CCDS10854.1	.	.	.	.	.	.	.	.	.	.	C	34	5.408259	0.96051	.	.	ENSG00000213398	ENST00000264005	D	0.95788	-3.81	5.88	5.88	0.94601	.	0.000000	0.64402	U	0.000001	D	0.98570	0.9522	H	0.96015	3.755	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99421	1.0933	10	0.87932	D	0	-25.9727	17.7309	0.88377	0.0:1.0:0.0:0.0	.	314	P04180	LCAT_HUMAN	S	314	ENSP00000264005:G314S	ENSP00000264005:G314S	G	-	1	0	LCAT	66531691	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	4.823000	0.62694	2.788000	0.95919	0.555000	0.69702	GGC		0.587	LCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268885.3			T	67974190	C	T	67974190	3	4	739	1	0	0	0	0	1	0	0	0	8660	681	24	2	386	2	LCAT	16	67974190	Missense_Mutation	SNP	C	TCGA-KN-8433-01A-11D-2310-10	9424258	67974190	22380563	173	43084											
ATMIN	23300	broad.mit.edu	37	16	81078086	81078087	+	Frame_Shift_Ins	INS	-	-	G	rs140077063		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr16:81078086_81078087insG	ENST00000299575.4	+	4	2007_2008	c.1983_1984insG	c.(1984-1986)gagfs	p.E662fs	ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000564241.1_Frame_Shift_Ins_p.E506fs|ATMIN_ENST00000566488.1_Frame_Shift_Ins_p.E506fs	NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	662					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						CCATGACCACCGAGCCAGTCTT	0.47																																																0																																										SO:0001589	frameshift_variant	23300			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.1984dupG	16.37:g.81078087_81078087dupG	ENSP00000299575:p.Glu662fs		A8K4H8|Q68DC9	Frame_Shift_Ins	INS	ENST00000299575.4	37	CCDS32494.1																																																																																				0.47	ATMIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432140.1	NM_015251		G	81078087	-	G	81078086	7	5	739	1	0	1	1	0	0	0	0	0	1110	639	23	0	1997	0	ATMIN	16	81078086	Frame_Shift_Ins	INS	-	TCGA-KN-8433-01A-11D-2310-10	13103896	81078086	9276667	174	43085											
ZZEF1	23140	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	17	3917706	3917706	+	Missense_Mutation	SNP	T	T	A			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr17:3917706T>A	ENST00000381638.2	-	50	8373	c.8249A>T	c.(8248-8250)gAc>gTc	p.D2750V		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2750							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						TTGCTGGAAGTCACTGCTGCT	0.473																																																0													148	131	137					17																	3917706		2203	4300	6503	SO:0001583	missense	23140			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.8249A>T	17.37:g.3917706T>A	ENSP00000371051:p.Asp2750Val		A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.617960	0.87359	.	.	ENSG00000074755	ENST00000381638	T	0.23950	1.88	5.17	5.17	0.71159	.	0.099894	0.64402	D	0.000002	T	0.40909	0.1136	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.31138	-0.9954	10	0.72032	D	0.01	-20.0268	15.1875	0.73016	0.0:0.0:0.0:1.0	.	2750	O43149	ZZEF1_HUMAN	V	2750	ENSP00000371051:D2750V	ENSP00000371051:D2750V	D	-	2	0	ZZEF1	3864455	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	7.504000	0.81646	2.183000	0.69458	0.533000	0.62120	GAC		0.473	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		A	3917706	T	A	3917706	3	1	739	1	0	0	0	0	1	0	0	0	18260	1667	58	5	660	5	ZZEF1	17	3917706	Missense_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10		3917706	77277504	175	43086											
TP53	7157	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	17	7579699	7579699	+	Splice_Site	SNP	C	C	A			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr17:7579699C>A	ENST00000269305.4	-	3	286		c.e3+1		TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000445888.2_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)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	21	Unknown(11)|Whole gene deletion(8)|Insertion - Frameshift(1)|Deletion - Frameshift(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)											41	42	42					17																	7579699		2202	4298	6500	SO:0001630	splice_region_variant	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.96+1G>T	17.37:g.7579699C>A			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	22.5	4.297523	0.81025	.	.	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	A	7579699	C	A	7579699	5	1	739	1	0	0	0	0	0	0	1	0	16386	521	18	4	1209	4	TP53	17	7579699	Splice_Site	SNP	C	TCGA-KN-8433-01A-11D-2310-10	3661993	7579699	73615511	176	43087											
TBC1D26	353149	mdanderson.org	37	17	15642054	15642054	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr17:15642054A>G	ENST00000437605.2	+	8	657	c.407A>G	c.(406-408)aAg>aGg	p.K136R	ZNF286A_ENST00000413242.2_3'UTR|AC005324.6_ENST00000433873.1_RNA|TBC1D26_ENST00000579428.1_Missense_Mutation_p.K136R|AC005324.6_ENST00000580194.1_RNA|AC005324.6_ENST00000434017.1_RNA	NM_178571.4	NP_848666	Q86UD7	TBC26_HUMAN	TBC1 domain family, member 26	136	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.078)		GAGAAGGGCAAGAGGTCCTCC	0.522																																																0													118	116	117					17																	15642054		2201	4295	6496	SO:0001583	missense	353149				CCDS42265.1	17p11.2	2008-11-04			ENSG00000214946	ENSG00000214946			28745	protein-coding gene	gene with protein product						11347906	Standard	NM_178571		Approved	MGC51025	uc010cov.3	Q86UD7	OTTHUMG00000059071	ENST00000437605.2:c.407A>G	17.37:g.15642054A>G	ENSP00000410111:p.Lys136Arg		A8K929|Q4G172	Missense_Mutation	SNP	ENST00000437605.2	37	CCDS42265.1	.	.	.	.	.	.	.	.	.	.	a	0.124	-1.122408	0.01785	.	.	ENSG00000214946	ENST00000437605	T	0.33216	1.42	1.44	-1.49	0.08718	Rab-GAP/TBC domain (4);	0.556946	0.16549	N	0.209565	T	0.33265	0.0857	L	0.46614	1.455	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.988;0.991	T	0.35525	-0.9785	10	0.07030	T	0.85	.	4.0277	0.09695	0.5255:0.0:0.4745:0.0	.	136;136	Q86UD7;Q86UD7-2	TBC26_HUMAN;.	R	136	ENSP00000410111:K136R	ENSP00000410111:K136R	K	+	2	0	TBC1D26	15582779	0.056000	0.20664	0.002000	0.10522	0.010000	0.07245	0.671000	0.25172	-0.101000	0.12219	-0.526000	0.04340	AAG		0.522	TBC1D26-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178571		G	15642054	A	G	15642054	3	3	739	1	0	0	0	0	1	0	0	0	15621	72	3	3	429	3	TBC1D26	17	15642054	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	8062355	15642054	65553156	177	43088											
CCDC144NL	339184	mdanderson.org	37	17	20769996	20769996	+	Nonsense_Mutation	SNP	C	C	A			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr17:20769996C>A	ENST00000327925.5	-	3	555	c.436G>T	c.(436-438)Gga>Tga	p.G146*	RP11-344E13.3_ENST00000582324.1_RNA|RP11-344E13.3_ENST00000417232.2_RNA|RP11-344E13.3_ENST00000583962.1_RNA|CCDC144NL_ENST00000539484.1_5'UTR|RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000577537.1_RNA|RP11-344E13.3_ENST00000577860.1_RNA	NM_001004306.1	NP_001004306.1	Q6NUI1	C144L_HUMAN	coiled-coil domain containing 144 family, N-terminal like	146										large_intestine(3)|lung(3)|skin(1)	7						ccttctcctccttcagcctgg	0.572																																																0													43	29	34					17																	20769996		2112	4035	6147	SO:0001587	stop_gained	339184				CCDS32591.1	17p11.2	2009-01-15			ENSG00000205212	ENSG00000205212			33735	protein-coding gene	gene with protein product							Standard	NM_001004306		Approved	MGC87631	uc002gyf.3	Q6NUI1	OTTHUMG00000132271	ENST00000327925.5:c.436G>T	17.37:g.20769996C>A	ENSP00000328054:p.Gly146*			Nonsense_Mutation	SNP	ENST00000327925.5	37	CCDS32591.1	.	.	.	.	.	.	.	.	.	.	c	9.837	1.189859	0.21954	.	.	ENSG00000205212	ENST00000327925	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	.	.	.	.	.	.	.	X	146	.	ENSP00000328054:G146X	G	-	1	0	CCDC144NL	20710588	0.077000	0.21312	0.046000	0.18839	0.046000	0.14306	0.076000	0.14712	0.088000	0.17205	0.089000	0.15464	GGA		0.572	CCDC144NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255361.2	NM_001004306		A	20769996	C	A	20769996	4	1	739	1	0	0	0	0	0	1	0	0	2781	690	24	4	237	4	CCDC144NL	17	20769996	Nonsense_Mutation	SNP	C	TCGA-KN-8433-01A-11D-2310-10	5127942	20769996	60425214	178	43089											
KRTAP4-8	728224	mdanderson.org	37	17	39254124	39254124	+	Silent	SNP	C	C	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr17:39254124C>G	ENST00000333822.4	-	1	269	c.213G>C	c.(211-213)gtG>gtC	p.V71V		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	71	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						AGCAGCTGGACACACAGCAGC	0.667																																																0													5	8	7					17																	39254124		620	1442	2062	SO:0001819	synonymous_variant	728224			AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"Keratin associated proteins"	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.213G>C	17.37:g.39254124C>G			A8MSH3	Silent	SNP	ENST00000333822.4	37	CCDS45674.1																																																																																				0.667	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1	NM_031960		G	39254124	C	G	39254124	2	3	739	1	0	0	0	0	0	0	0	1	8558	465	17	4		4	KRTAP4-8	17	39254124	Silent	SNP	C	TCGA-KN-8433-01A-11D-2310-10	18484128	39254124	41941086	179	43090	410	2									
KRTAP4-8	728224	mdanderson.org	37	17	39254127	39254127	+	Silent	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr17:39254127A>G	ENST00000333822.4	-	1	266	c.210T>C	c.(208-210)tgT>tgC	p.C70C		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	70	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						AGCTGGACACACAGCAGCTGG	0.667																																																0													5	8	7					17																	39254127		619	1439	2058	SO:0001819	synonymous_variant	728224			AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"Keratin associated proteins"	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.210T>C	17.37:g.39254127A>G			A8MSH3	Silent	SNP	ENST00000333822.4	37	CCDS45674.1																																																																																				0.667	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1	NM_031960		G	39254127	A	G	39254127	2	3	739	1	0	0	0	0	0	0	0	1	8558	157	6	3		3	KRTAP4-8	17	39254127	Silent	SNP	A	TCGA-KN-8433-01A-11D-2310-10	3	39254127	41941083	180	43091	410	2									
ITGB4	3691	mdanderson.org	37	17	73752787	73752787	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr17:73752787T>C	ENST00000200181.3	+	37	5087	c.4900T>C	c.(4900-4902)Tcc>Ccc	p.S1634P	ITGB4_ENST00000450894.3_Missense_Mutation_p.S1564P|ITGB4_ENST00000339591.3_Missense_Mutation_p.S1617P|ITGB4_ENST00000579662.1_Missense_Mutation_p.S1564P|GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000449880.2_Missense_Mutation_p.S1617P	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1634					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)			GCCCCCAGGCTCCGCCTTCAC	0.682																																																0													55	55	55					17																	73752787		2203	4298	6501	SO:0001583	missense	3691				CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"CD molecules", "Integrins", "Fibronectin type III domain containing"	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.4900T>C	17.37:g.73752787T>C	ENSP00000200181:p.Ser1634Pro		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	ENST00000200181.3	37	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	T	13.11	2.140134	0.37825	.	.	ENSG00000132470	ENST00000200181;ENST00000339591;ENST00000449880	T;T;T	0.54071	0.59;0.59;0.59	5.04	5.04	0.67666	Fibronectin, type III (1);	0.000000	0.85682	D	0.000000	T	0.67316	0.2880	L	0.51422	1.61	0.80722	D	1	P;D;P	0.89917	0.709;1.0;0.905	P;D;P	0.85130	0.802;0.997;0.628	T	0.70788	-0.4777	10	0.87932	D	0	.	15.0763	0.72080	0.0:0.0:0.0:1.0	.	1617;1564;1634	P16144-3;A0AVL6;P16144	.;.;ITB4_HUMAN	P	1634;1617;1617	ENSP00000200181:S1634P;ENSP00000344079:S1617P;ENSP00000400217:S1617P	ENSP00000200181:S1634P	S	+	1	0	ITGB4	71264382	1.000000	0.71417	0.937000	0.37676	0.496000	0.33645	4.247000	0.58750	2.036000	0.60181	0.379000	0.24179	TCC		0.682	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			C	73752787	T	C	73752787	3	2	739	1	0	0	0	0	1	0	0	0	7899	1551	54	3	5205	3	ITGB4	17	73752787	Missense_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10	34498660	73752787	7442423	181	43092											
DNAH17	8632	mdanderson.org	37	17	76547619	76547619	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr17:76547619T>C	ENST00000585328.1	-	16	2513	c.2389A>G	c.(2389-2391)Aag>Gag	p.K797E	DNAH17_ENST00000389840.5_Missense_Mutation_p.K797E	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	797	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)			TTGCTTACCTTCATAGCCTGG	0.512																																																0													138	108	118					17																	76547619		2203	4300	6503	SO:0001583	missense	8632			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.2389A>G	17.37:g.76547619T>C	ENSP00000465516:p.Lys797Glu		O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37		.	.	.	.	.	.	.	.	.	.	T	0.323	-0.960564	0.02267	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.22134	1.97	4.6	-0.881	0.10607	.	.	.	.	.	T	0.13157	0.0319	L	0.37850	1.14	0.22719	N	0.998812	B	0.02656	0.0	B	0.08055	0.003	T	0.39396	-0.9616	9	0.13470	T	0.59	.	7.3558	0.26719	0.0:0.1738:0.5542:0.272	.	499	Q9UFH2-4	.	E	797	ENSP00000374490:K797E	ENSP00000300671:K797E	K	-	1	0	DNAH17	74059214	1.000000	0.71417	0.993000	0.49108	0.030000	0.12068	0.364000	0.20325	-0.062000	0.13088	-0.689000	0.03729	AAG		0.512	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		C	76547619	T	C	76547619	3	2	739	1	0	0	0	0	1	0	0	0	4603	1792	62	3	11263	3	DNAH17	17	76547619	Missense_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10	2794832	76547619	4647591	182	43093											
KCTD1	284252	hgsc.bcm.edu	37	18	24127106	24127106	+	Intron	SNP	C	C	T	rs554790375		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr18:24127106C>T	ENST00000408011.3	-	1	545				KCTD1_ENST00000317932.7_Intron|KCTD1_ENST00000580059.1_5'Flank|KCTD1_ENST00000579973.1_Intron|KCTD1_ENST00000417602.1_Silent_p.A465A	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)			TGCCAATGCCCGCGATGCTGT	0.682																																																0													20	23	22					18																	24127106		692	1591	2283	SO:0001627	intron_variant	284252			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+1748G>A	18.37:g.24127106C>T			A8K1F5	Silent	SNP	ENST00000408011.3	37	CCDS11888.1																																																																																				0.682	KCTD1-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000446265.1	XM_209091		T	24127106	C	T	24127106	1	4	739	0	1	0	0	0	0	0	0	0	8098	639	23	1		1	KCTD1	18	24127106	Intron	SNP	C	TCGA-KN-8433-01A-11D-2310-10		24127106	53950142	183	43094											
HCN2	610	mdanderson.org	37	19	605093	605093	+	Silent	SNP	G	G	A	rs55839339	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr19:605093G>A	ENST00000251287.2	+	3	1142	c.1089G>A	c.(1087-1089)gcG>gcA	p.A363A		NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	363					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)		TGGCCAGCGCGGTGATGAGGA	0.642													g|||	35	0.00698882	0.003	0.0159	5008	,	,		9413	0.002		0.0139	False		,,,				2504	0.0041				Melanoma(145;1175 2427 8056 36306)											0								G		34,4372		0,34,2169	89	73	79		1089	-6.8	0.8	19	dbSNP_129	79	170,8424		3,164,4130	no	coding-synonymous	HCN2	NM_001194.3		3,198,6299	AA,AG,GG		1.9781,0.7717,1.5692		363/890	605093	204,12796	2203	4297	6500	SO:0001819	synonymous_variant	610			AF064877	CCDS12035.1	19p13	2011-07-05				ENSG00000099822		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4846	protein-coding gene	gene with protein product		602781		BCNG2		9405696, 9630217, 16382102	Standard	NM_001194		Approved	BCNG-2, HAC-1	uc002lpe.3	Q9UL51		ENST00000251287.2:c.1089G>A	19.37:g.605093G>A			O60742|O60743|O75267|Q9UBS2	Silent	SNP	ENST00000251287.2	37	CCDS12035.1																																																																																				0.642	HCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452100.1	NM_001194		A	605093	G	A	605093	2	1	739	1	0	0	0	0	0	0	0	1	6999	1103	39	1		1	HCN2	19	605093	Silent	SNP	G	TCGA-KN-8433-01A-11D-2310-10		605093	58523890	184	43095											
PLIN4	729359	mdanderson.org	37	19	4512514	4512514	+	Silent	SNP	G	G	C	rs7259625	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr19:4512514G>C	ENST00000301286.3	-	3	1415	c.1416C>G	c.(1414-1416)ggC>ggG	p.G472G		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	472	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						TGTCCAGGCCGCCCTGGACGG	0.602													G|||	1797	0.358826	0.6657	0.2305	5008	,	,		22698	0.1032		0.33	False		,,,				2504	0.3282															0								C		2301,1611		711,879,366	102	114	110		1416	-10.5	0	19	dbSNP_116	110	2661,5623		420,1821,1901	no	coding-synonymous	PLIN4	NM_001080400.1		1131,2700,2267	CC,CG,GG		32.1222,41.181,40.6855		472/1358	4512514	4962,7234	1956	4142	6098	SO:0001819	synonymous_variant	729359			AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"Perilipins"	29393	protein-coding gene	gene with protein product		613247	"KIAA1881"	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.1416C>G	19.37:g.4512514G>C			A6NEI2	Silent	SNP	ENST00000301286.3	37	CCDS45927.1																																																																																				0.602	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		C	4512514	G	C	4512514	2	2	739	1	0	0	0	0	0	0	0	1	12094	1074	38	4		4	PLIN4	19	4512514	Silent	SNP	G	TCGA-KN-8433-01A-11D-2310-10	3907421	4512514	54616469	185	43096											
MUC16	94025	mdanderson.org	37	19	9002597	9002597	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr19:9002597C>T	ENST00000397910.4	-	51	40422	c.40219G>A	c.(40219-40221)Gac>Aac	p.D13407N	MUC16_ENST00000380951.5_Missense_Mutation_p.D48N	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13409	SEA 9. {ECO:0000255|PROSITE- ProRule:PRU00188}.				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						CGCTCTCTGTCCAGTCCAGGG	0.592																																																0																																										SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.40219G>A	19.37:g.9002597C>T	ENSP00000381008:p.Asp13407Asn		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	11.51|11.51	1.659878|1.659878	0.29515|0.29515	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000397910;ENST00000380951|ENST00000542240	T;T|.	0.45668|.	0.89;0.89|.	2.75|2.75	-0.839|-0.839	0.10759|0.10759	SEA (1);|.	.|.	.|.	.|.	.|.	T|.	0.43344|.	0.1243|.	L|L	0.52759|0.52759	1.655|1.655	.|.	.|.	.|.	B;D|.	0.60575|.	0.007;0.988|.	B;D|.	0.75020|.	0.014;0.985|.	T|.	0.51236|.	-0.8731|.	8|.	0.54805|.	T|.	0.06|.	-11.8857|-11.8857	6.8102|6.8102	0.23801|0.23801	0.0:0.8029:0.0:0.1971|0.0:0.8029:0.0:0.1971	.|.	21052;13407|.	Q8WXI7;B5ME49|.	MUC16_HUMAN;.|.	N|X	13407;48|246	ENSP00000381008:D13407N;ENSP00000370338:D48N|.	ENSP00000370338:D48N|.	D|W	-|-	1|3	0|0	MUC16|MUC16	8863597|8863597	0.045000|0.045000	0.20229|0.20229	0.003000|0.003000	0.11579|0.11579	0.000000|0.000000	0.00434|0.00434	1.258000|1.258000	0.32944|0.32944	-0.029000|-0.029000	0.13827|0.13827	-3.921000|-3.921000	0.00016|0.00016	GAC|TGG		0.592	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9002597	C	T	9002597	3	4	739	1	0	0	0	0	1	0	0	0	9975	855	30	2	3440	2	MUC16	19	9002597	Missense_Mutation	SNP	C	TCGA-KN-8433-01A-11D-2310-10	4490083	9002597	50126386	186	43097											
MUC16	94025	mdanderson.org	37	19	9012816	9012816	+	Silent	SNP	G	G	A			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr19:9012816G>A	ENST00000397910.4	-	34	38831	c.38628C>T	c.(38626-38628)ggC>ggT	p.G12876G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12878	SEA 6. {ECO:0000255|PROSITE- ProRule:PRU00188}.			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						ACTTCCTGGAGCCTGGGTGAT	0.597																																																0													205	175	185					19																	9012816		2019	4181	6200	SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.38628C>T	19.37:g.9012816G>A			Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																				0.597	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	9012816	G	A	9012816	2	1	739	1	0	0	0	0	0	0	0	1	9975	958	34	2		2	MUC16	19	9012816	Silent	SNP	G	TCGA-KN-8433-01A-11D-2310-10	10219	9012816	50116167	187	43098	411	2									
MUC16	94025	mdanderson.org	37	19	9012819	9012819	+	Silent	SNP	T	T	A	rs4992694	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr19:9012819T>A	ENST00000397910.4	-	34	38828	c.38625A>T	c.(38623-38625)ccA>ccT	p.P12875P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12877	SEA 6. {ECO:0000255|PROSITE- ProRule:PRU00188}.			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						TCCTGGAGCCTGGGTGATGCA	0.597																																																0																																										SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.38625A>T	19.37:g.9012819T>A			Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																				0.597	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	9012819	T	A	9012819	2	1	739	1	0	0	0	0	0	0	0	1	9975	1567	55	5		5	MUC16	19	9012819	Silent	SNP	T	TCGA-KN-8433-01A-11D-2310-10	3	9012819	50116164	188	43099	411	2									
PRDX2	7001	mdanderson.org	37	19	12911040	12911040	+	Silent	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr19:12911040A>G	ENST00000301522.2	-	4	459	c.331T>C	c.(331-333)Ttg>Ctg	p.L111L	CTD-2659N19.10_ENST00000585496.1_RNA|PRDX2_ENST00000334482.5_Silent_p.L111L	NM_005809.4	NP_005800.3	P32119	PRDX2_HUMAN	peroxiredoxin 2	111	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cellular response to oxidative stress (GO:0034599)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neuron apoptotic process (GO:0043524)|regulation of apoptotic process (GO:0042981)|removal of superoxide radicals (GO:0019430)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	antioxidant activity (GO:0016209)|thioredoxin peroxidase activity (GO:0008379)			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						TCCTCAGACAAGCGTCTGGTC	0.622																																																0													71	74	73					19																	12911040		2203	4300	6503	SO:0001819	synonymous_variant	7001				CCDS12281.1	19p13.2	2008-07-17			ENSG00000167815	ENSG00000167815			9353	protein-coding gene	gene with protein product	"thioredoxin-dependent peroxide reductase 1", "thiol-specific antioxidant 1", "natural killer-enhancing factor B", "thioredoxin peroxidase 1", "torin"	600538		TDPX1		7607688	Standard	NM_005809		Approved	PRP, NKEFB, TSA, PRXII, PRX2, MGC4104	uc002mvd.4	P32119	OTTHUMG00000134285	ENST00000301522.2:c.331T>C	19.37:g.12911040A>G			A8K0C0|P31945|P32118|P35701|Q6FHG4|Q92763|Q9UC23	Missense_Mutation	SNP	ENST00000301522.2	37	CCDS12281.1																																																																																				0.622	PRDX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258950.2	NM_005809		G	12911040	A	G	12911040	2	3	739	1	0	0	0	0	0	0	0	1	12470	69	3	3		3	PRDX2	19	12911040	Silent	SNP	A	TCGA-KN-8433-01A-11D-2310-10	3898221	12911040	46217943	189	43100											
RNASEH2A	10535	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	12917591	12917591	+	Missense_Mutation	SNP	A	A	T			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr19:12917591A>T	ENST00000221486.4	+	1	198	c.104A>T	c.(103-105)gAg>gTg	p.E35V		NM_006397.2	NP_006388.2	O75792	RNH2A_HUMAN	ribonuclease H2, subunit A	35					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						GGCGTCGATGAGGCGGGCAGG	0.692																																																0													13	11	12					19																	12917591		2188	4285	6473	SO:0001583	missense	10535			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.104A>T	19.37:g.12917591A>T	ENSP00000221486:p.Glu35Val		B2RCY1|Q96F11	Missense_Mutation	SNP	ENST00000221486.4	37	CCDS12282.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.532462	0.85812	.	.	ENSG00000104889	ENST00000221486	D	0.98987	-5.3	4.44	4.44	0.53790	Ribonuclease HII/HIII domain (1);Ribonuclease H-like (1);	0.050459	0.85682	D	0.000000	D	0.99579	0.9848	H	0.98918	4.37	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97679	1.0171	10	0.87932	D	0	-23.2914	12.8014	0.57588	1.0:0.0:0.0:0.0	.	35	O75792	RNH2A_HUMAN	V	35	ENSP00000221486:E35V	ENSP00000221486:E35V	E	+	2	0	RNASEH2A	12778591	1.000000	0.71417	0.996000	0.52242	0.463000	0.32649	8.022000	0.88759	1.860000	0.53959	0.374000	0.22700	GAG		0.692	RNASEH2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451507.1	NM_006397		T	12917591	A	T	12917591	3	4	739	1	0	0	0	0	1	0	0	0	13418	304	11	5	106	5	RNASEH2A	19	12917591	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	6551	12917591	46211392	190	43101											
CACNA1A	773	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	13397774	13397774	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr19:13397774G>T	ENST00000360228.5	-	20	3095	c.3096C>A	c.(3094-3096)aaC>aaA	p.N1032K	CACNA1A_ENST00000573710.2_Missense_Mutation_p.N1033K	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1033					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	CGGAGCCCTGGTTCTCTCTGA	0.537																																																0													14	15	15					19																	13397774		1592	3671	5263	SO:0001583	missense	773			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.3096C>A	19.37:g.13397774G>T	ENSP00000353362:p.Asn1032Lys		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	G	9.683	1.149864	0.21371	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.95447	-3.71	5.19	4.14	0.48551	.	1.040750	0.07642	N	0.930452	D	0.90889	0.7137	L	0.36672	1.1	0.34120	D	0.664068	B;B;B	0.23249	0.051;0.082;0.02	B;B;B	0.18561	0.016;0.022;0.018	T	0.81982	-0.0683	10	0.06236	T	0.91	.	10.3832	0.44123	0.1566:0.0:0.8434:0.0	.	1033;1036;1032	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	K	1032;1036;1033;1033	ENSP00000353362:N1032K	ENSP00000317661:N1033K	N	-	3	2	CACNA1A	13258774	1.000000	0.71417	0.997000	0.53966	0.653000	0.38743	2.899000	0.48679	2.427000	0.82271	0.555000	0.69702	AAC		0.537	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		T	13397774	G	T	13397774	3	4	739	1	0	0	0	0	1	0	0	0	2540	1252	44	4	4638	4	CACNA1A	19	13397774	Missense_Mutation	SNP	G	TCGA-KN-8433-01A-11D-2310-10	480183	13397774	45731209	191	43102											
C19orf44	84167	mdanderson.org	37	19	16611835	16611835	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr19:16611835T>C	ENST00000221671.3	+	2	388	c.232T>C	c.(232-234)Tca>Cca	p.S78P	C19orf44_ENST00000594035.1_Missense_Mutation_p.S78P|CTD-3222D19.2_ENST00000409035.1_Intron	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	78										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						CAGGCTTGCCTCATGTAGACC	0.532																																																0													109	122	117					19																	16611835		2203	4300	6503	SO:0001583	missense	84167			AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5		ENST00000221671.3:c.232T>C	19.37:g.16611835T>C	ENSP00000221671:p.Ser78Pro		Q8N6Y7	Missense_Mutation	SNP	ENST00000221671.3	37	CCDS12345.1	.	.	.	.	.	.	.	.	.	.	T	12.81	2.048238	0.36181	.	.	ENSG00000105072	ENST00000221671	.	.	.	3.84	1.66	0.24008	.	0.547731	0.16747	N	0.201199	T	0.53334	0.1790	M	0.65975	2.015	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.72075	0.976;0.976	T	0.40757	-0.9546	9	0.49607	T	0.09	-0.1297	3.1182	0.06382	0.3702:0.1088:0.0:0.521	.	78;78	Q9H6X5;Q9H6X5-2	CS044_HUMAN;.	P	78	.	ENSP00000221671:S78P	S	+	1	0	C19orf44	16472835	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.200000	0.17257	-0.008000	0.14320	-0.250000	0.11733	TCA		0.532	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461218.1	NM_032207		C	16611835	T	C	16611835	3	2	739	1	0	0	0	0	1	0	0	0	1929	1551	54	3	234	3	C19orf44	19	16611835	Missense_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10	3214061	16611835	42517148	192	43103											
MYO9B	4650	hgsc.bcm.edu	37	19	17294679	17294680	+	Splice_Site	INS	-	-	A			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr19:17294679_17294680insA	ENST00000594824.1	+	16	2520		c.e16+2		MYO9B_ENST00000397274.2_Splice_Site|MYO9B_ENST00000595618.1_Splice_Site			Q13459	MYO9B_HUMAN	myosin IXB						actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)	p.?(2)		breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						ATTCCAAAGGTAAAAAAAAAAA	0.411																																																2	Unknown(2)	soft_tissue(2)																																								SO:0001630	splice_region_variant	4650				CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"Myosins / Myosin superfamily : Class IX"	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.2373+2->A	19.37:g.17294690_17294690dupA			O75314|Q9NUJ2|Q9UHN0	Splice_Site	INS	ENST00000594824.1	37																																																																																					0.411	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1		Intron	A	17294680	-	A	17294679	8	5	739	1	0	1	1	0	0	0	1	0	10087	1652	57	0	2433	0	MYO9B	19	17294679	Splice_Site	INS	-	TCGA-KN-8433-01A-11D-2310-10	682844	17294679	41834304	193	43104											
ZNF493	284443	mdanderson.org	37	19	21606001	21606001	+	Silent	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr19:21606001A>G	ENST00000355504.4	+	2	422	c.156A>G	c.(154-156)aaA>aaG	p.K52K	ZNF493_ENST00000392288.2_Silent_p.K180K|CTD-2561J22.3_ENST00000600810.1_Intron	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	52					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						CTGGAAAGAAACCTTTCAAAT	0.294																																																0													43	48	46					19																	21606001		2199	4290	6489	SO:0001819	synonymous_variant	284443			AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"Zinc fingers, C2H2-type", "-"	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.156A>G	19.37:g.21606001A>G			G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Silent	SNP	ENST00000355504.4	37	CCDS12412.1																																																																																				0.294	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		G	21606001	A	G	21606001	2	3	739	1	0	0	0	0	0	0	0	1	17949	40	2	3		3	ZNF493	19	21606001	Silent	SNP	A	TCGA-KN-8433-01A-11D-2310-10	4311322	21606001	37522982	194	43105											
ZNF208	7757	mdanderson.org	37	19	22155691	22155691	+	Silent	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr19:22155691A>G	ENST00000397126.4	-	4	2293	c.2145T>C	c.(2143-2145)caT>caC	p.H715H	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	715					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)				TCTCTCCAGTATGAATTCTCT	0.373																																																0													35	37	37					19																	22155691		1993	4170	6163	SO:0001819	synonymous_variant	7757			BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"Zinc fingers, C2H2-type", "-"	12999	protein-coding gene	gene with protein product	"zinc finger protein 95"	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2145T>C	19.37:g.22155691A>G				Silent	SNP	ENST00000397126.4	37	CCDS54240.1																																																																																				0.373	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		G	22155691	A	G	22155691	2	3	739	1	0	0	0	0	0	0	0	1	17771	446	16	3		3	ZNF208	19	22155691	Silent	SNP	A	TCGA-KN-8433-01A-11D-2310-10	549690	22155691	36973292	195	43106	412	2									
ZNF208	7757	mdanderson.org	37	19	22155696	22155696	+	Missense_Mutation	SNP	T	T	C	rs201427226		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr19:22155696T>C	ENST00000397126.4	-	4	2288	c.2140A>G	c.(2140-2142)Att>Gtt	p.I714V	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	714					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)				CCAGTATGAATTCTCTTATGT	0.363																																																0													34	36	35					19																	22155696		1994	4182	6176	SO:0001583	missense	7757			BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"Zinc fingers, C2H2-type", "-"	12999	protein-coding gene	gene with protein product	"zinc finger protein 95"	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2140A>G	19.37:g.22155696T>C	ENSP00000380315:p.Ile714Val			Missense_Mutation	SNP	ENST00000397126.4	37	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	T	10.16	1.273186	0.23221	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.00986	5.47	1.9	-0.727	0.11166	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02119	0.0066	.	.	.	0.22001	N	0.999425	D	0.67145	0.996	D	0.63877	0.919	T	0.45673	-0.9245	8	0.36615	T	0.2	.	2.6811	0.05094	0.3914:0.1391:0.0:0.4695	.	614	O43345	ZN208_HUMAN	V	714;614	ENSP00000380315:I714V	ENSP00000380315:I714V	I	-	1	0	ZNF208	21947536	0.000000	0.05858	0.002000	0.10522	0.258000	0.26162	0.170000	0.16663	-0.730000	0.04869	0.232000	0.17820	ATT		0.363	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		C	22155696	T	C	22155696	3	2	739	1	0	0	0	0	1	0	0	0	17771	1493	52	3	1706	3	ZNF208	19	22155696	Missense_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10	5	22155696	36973287	196	43107	412	2									
ZNF208	7757	mdanderson.org	37	19	22155715	22155715	+	Silent	SNP	G	G	A	rs201994264		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr19:22155715G>A	ENST00000397126.4	-	4	2269	c.2121C>T	c.(2119-2121)aaC>aaT	p.N707N	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	707					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)				GTTCCATAAGGTTTGAGGACC	0.363																																																0													34	35	35					19																	22155715		1989	4185	6174	SO:0001819	synonymous_variant	7757			BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"Zinc fingers, C2H2-type", "-"	12999	protein-coding gene	gene with protein product	"zinc finger protein 95"	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2121C>T	19.37:g.22155715G>A				Silent	SNP	ENST00000397126.4	37	CCDS54240.1																																																																																				0.363	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		A	22155715	G	A	22155715	2	1	739	1	0	0	0	0	0	0	0	1	17771	1252	44	2		2	ZNF208	19	22155715	Silent	SNP	G	TCGA-KN-8433-01A-11D-2310-10	19	22155715	36973268	197	43108											
ZNF676	163223	mdanderson.org	37	19	22363172	22363172	+	Silent	SNP	G	G	A			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr19:22363172G>A	ENST00000397121.2	-	3	1664	c.1347C>T	c.(1345-1347)taC>taT	p.Y449Y		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	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)|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)				CTTCACATTTGTAGGGTTTCT	0.438																																																0																																										SO:0001819	synonymous_variant	163223			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.1347C>T	19.37:g.22363172G>A			A8MVX5	Silent	SNP	ENST00000397121.2	37	CCDS42539.1																																																																																				0.438	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		A	22363172	G	A	22363172	2	1	739	1	0	0	0	0	0	0	0	1	18088	1372	48	2		2	ZNF676	19	22363172	Silent	SNP	G	TCGA-KN-8433-01A-11D-2310-10	207457	22363172	36765811	198	43109											
ZNF536	9745	mdanderson.org	37	19	30936335	30936335	+	Silent	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr19:30936335T>C	ENST00000355537.3	+	2	2013	c.1866T>C	c.(1864-1866)ggT>ggC	p.G622G		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	622					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)					ACCTGCAGGGTCCTGGGAACA	0.592																																																0													95	106	102					19																	30936335		2203	4300	6503	SO:0001819	synonymous_variant	9745				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"Zinc fingers, C2H2-type"	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1866T>C	19.37:g.30936335T>C			A2RU18	Silent	SNP	ENST00000355537.3	37	CCDS32984.1																																																																																				0.592	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		C	30936335	T	C	30936335	2	2	739	1	0	0	0	0	0	0	0	1	17979	1654	58	3		3	ZNF536	19	30936335	Silent	SNP	T	TCGA-KN-8433-01A-11D-2310-10	8573163	30936335	28192648	199	43110											
KIAA0355	9710	broad.mit.edu;mdanderson.org;bcgsc.ca	37	19	34818401	34818401	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr19:34818401C>T	ENST00000299505.6	+	4	1654	c.781C>T	c.(781-783)Caa>Taa	p.Q261*		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	261										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					CTTTTGTTCTCAAAGTGCAGC	0.403																																																0													107	116	113					19																	34818401		2203	4300	6503	SO:0001587	stop_gained	9710				CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398			29016	protein-coding gene	gene with protein product						9205841	Standard	NM_014686		Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.781C>T	19.37:g.34818401C>T	ENSP00000299505:p.Gln261*		Q2M3W4	Nonsense_Mutation	SNP	ENST00000299505.6	37	CCDS12436.1	.	.	.	.	.	.	.	.	.	.	C	44	11.257385	0.99537	.	.	ENSG00000166398	ENST00000299505	.	.	.	5.46	5.46	0.80206	.	0.120985	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-23.9959	19.3067	0.94165	0.0:1.0:0.0:0.0	.	.	.	.	X	261	.	ENSP00000299505:Q261X	Q	+	1	0	KIAA0355	39510241	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.775000	0.68915	2.580000	0.87095	0.544000	0.68410	CAA		0.403	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451678.4	NM_014686		T	34818401	C	T	34818401	4	4	739	1	0	0	0	0	0	1	0	0	8172	827	29	2	791	2	KIAA0355	19	34818401	Nonsense_Mutation	SNP	C	TCGA-KN-8433-01A-11D-2310-10	3882066	34818401	24310582	200	43111											
COX7A1	1346	broad.mit.edu;mdanderson.org;bcgsc.ca	37	19	36642385	36642385	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr19:36642385T>C	ENST00000292907.3	-	3	627	c.166A>G	c.(166-168)Aca>Gca	p.T56A	COX7A1_ENST00000437291.2_5'UTR	NM_001864.2	NP_001855.1	P24310	CX7A1_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 1 (muscle)	56					generation of precursor metabolites and energy (GO:0006091)|hydrogen ion transmembrane transport (GO:1902600)	integral component of membrane (GO:0016021)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)			endometrium(2)|large_intestine(1)	3	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AGCGTCATTGTCACTCGGTAC	0.622																																																0													190	145	160					19																	36642385		2203	4300	6503	SO:0001583	missense	1346			BC002757	CCDS12490.1	19q13.1	2011-07-04			ENSG00000161281	ENSG00000161281	1.9.3.1	"Mitochondrial respiratory chain complex / Complex IV"	2287	protein-coding gene	gene with protein product		123995		COX7A		1327965, 2550906	Standard	NM_001864		Approved	COX7AH	uc002odm.1	P24310	OTTHUMG00000048144	ENST00000292907.3:c.166A>G	19.37:g.36642385T>C	ENSP00000292907:p.Thr56Ala			Missense_Mutation	SNP	ENST00000292907.3	37	CCDS12490.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	19.91|19.91	3.914076|3.914076	0.72983|0.72983	.|.	.|.	ENSG00000161281|ENSG00000161281	ENST00000292907|ENST00000437291	T|.	0.62941|.	-0.01|.	5.22|5.22	5.22|5.22	0.72569|0.72569	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.41581|.	0.1165|.	.|.	.|.	.|.	0.28372|0.28372	N|N	0.919952|0.919952	D|.	0.76494|.	0.999|.	D|.	0.85130|.	0.997|.	T|.	0.33574|.	-0.9863|.	9|.	0.66056|.	D|.	0.02|.	-15.061|-15.061	11.4831|11.4831	0.50337|0.50337	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	56|.	P24310|.	CX7A1_HUMAN|.	A|W	56|85	ENSP00000292907:T56A|.	ENSP00000292907:T56A|.	T|X	-|-	1|3	0|0	COX7A1|COX7A1	41334225|41334225	0.998000|0.998000	0.40836|0.40836	0.422000|0.422000	0.26621|0.26621	0.003000|0.003000	0.03518|0.03518	3.916000|3.916000	0.56416|0.56416	1.962000|1.962000	0.57031|0.57031	0.520000|0.520000	0.50463|0.50463	ACA|TGA		0.622	COX7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109545.2	NM_001864		C	36642385	T	C	36642385	3	2	739	1	0	0	0	0	1	0	0	0	3781	1667	58	3	81	3	COX7A1	19	36642385	Missense_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10	1823984	36642385	22486598	201	43112											
SNRPA	6626	mdanderson.org	37	19	41269564	41269564	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr19:41269564T>C	ENST00000243563.3	+	5	1223	c.673T>C	c.(673-675)Tcc>Ccc	p.S225P		NM_004596.4	NP_004587.1	P09012	SNRPA_HUMAN	small nuclear ribonucleoprotein polypeptide A	225	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				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)			GCTCATGCTGTCCATGCTTTT	0.567																																																0													179	155	163					19																	41269564		2203	4300	6503	SO:0001583	missense	6626			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.673T>C	19.37:g.41269564T>C	ENSP00000243563:p.Ser225Pro			Missense_Mutation	SNP	ENST00000243563.3	37	CCDS12565.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.798304	0.90538	.	.	ENSG00000077312	ENST00000243563;ENST00000545469	T	0.17054	2.3	5.73	5.73	0.89815	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.120404	0.56097	D	0.000023	T	0.50667	0.1629	M	0.91972	3.26	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	T	0.60959	-0.7159	10	0.59425	D	0.04	-28.1748	15.0072	0.71522	0.0:0.0:0.0:1.0	.	225	P09012	SNRPA_HUMAN	P	225;146	ENSP00000243563:S225P	ENSP00000243563:S225P	S	+	1	0	SNRPA	45961404	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.644000	0.67902	2.184000	0.69523	0.482000	0.46254	TCC		0.567	SNRPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463118.2	NM_004596		C	41269564	T	C	41269564	3	2	739	1	0	0	0	0	1	0	0	0	14865	1667	58	3	691	3	SNRPA	19	41269564	Missense_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10	4627179	41269564	17859419	202	43113											
PVRL2	5819	mdanderson.org	37	19	45391603	45391603	+	Silent	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr19:45391603A>G	ENST00000252483.5	+	9	1584	c.1584A>G	c.(1582-1584)aaA>aaG	p.K528K	TOMM40_ENST00000252487.5_5'Flank|TOMM40_ENST00000426677.2_5'Flank|CTB-129P6.4_ENST00000585408.1_RNA|TOMM40_ENST00000405636.2_5'Flank|TOMM40_ENST00000592434.1_5'Flank	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	528					acrosome assembly (GO:0001675)|adherens junction organization (GO:0034332)|adhesion of symbiont to host (GO:0044406)|cell junction assembly (GO:0034329)|cell part morphogenesis (GO:0032990)|cell-cell junction organization (GO:0045216)|cilium organization (GO:0044782)|coreceptor-mediated virion attachment to host cell (GO:0046814)|cytoskeleton organization (GO:0007010)|establishment of mitochondrion localization (GO:0051654)|fertilization (GO:0009566)|fusion of virus membrane with host plasma membrane (GO:0019064)|homophilic cell adhesion (GO:0007156)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|sperm mitochondrion organization (GO:0030382)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		ACCAGGGCAAAGGCTTTGTCA	0.532																																																0													90	85	87					19																	45391603		1982	4161	6143	SO:0001819	synonymous_variant	5819			X80038	CCDS12645.1, CCDS42576.1	19q13.32	2013-01-29			ENSG00000130202	ENSG00000130202		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9707	protein-coding gene	gene with protein product		600798		HVEB		7622062, 10196354	Standard	NM_001042724		Approved	PVRR2, PRR2, CD112	uc002ozw.1	Q92692	OTTHUMG00000180839	ENST00000252483.5:c.1584A>G	19.37:g.45391603A>G			A8K5L5|O75455|Q6IBI6|Q96J29	Silent	SNP	ENST00000252483.5	37	CCDS42576.1																																																																																				0.532	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453231.1	NM_002856		G	45391603	A	G	45391603	2	3	739	1	0	0	0	0	0	0	0	1	12846	69	3	3		3	PVRL2	19	45391603	Silent	SNP	A	TCGA-KN-8433-01A-11D-2310-10	4122039	45391603	13737380	203	43114											
LILRB3	11025	mdanderson.org	37	19	54725992	54725992	+	Silent	SNP	G	G	A	rs148339740	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr19:54725992G>A	ENST00000391750.1	-	5	502	c.366C>T	c.(364-366)agC>agT	p.S122S	LILRA6_ENST00000419410.2_Intron|LILRB3_ENST00000245620.9_Silent_p.S122S|CTB-83J4.1_ENST00000601161.1_lincRNA|LILRB3_ENST00000424807.1_Silent_p.S122S|LILRB3_ENST00000469273.1_5'Flank|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000391735.3_Intron|LILRB3_ENST00000407860.2_Silent_p.S122S|LILRB3_ENST00000346401.6_Silent_p.S122S|LILRA6_ENST00000440558.2_Intron			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	122	Ig-like C2-type 2.		S -> N (in dbSNP:rs3826750). {ECO:0000269|PubMed:9278324}.		cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	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)		GGGTGGGTTTGCTGTAGGCTC	0.592													.|||	959	0.191494	0.1029	0.1744	5008	,	,		13407	0.1071		0.2495	False		,,,				2504	0.3507															0													62	40	48					19																	54725992		2132	3919	6051	SO:0001819	synonymous_variant	11025			U91928	CCDS33105.1, CCDS46175.1	19q13.4	2013-01-11			ENSG00000204577	ENSG00000204577		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6607	protein-coding gene	gene with protein product		604820				9278324, 9382880	Standard	NM_006864		Approved	LIR-3, HL9, ILT5, LIR3, CD85a	uc002qee.1	O75022	OTTHUMG00000066626	ENST00000391750.1:c.366C>T	19.37:g.54725992G>A			C9J1P3|C9JIP1|O15471|Q86U49	Silent	SNP	ENST00000391750.1	37	CCDS33105.1																																																																																				0.592	LILRB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142844.5	NM_006864		A	54725992	G	A	54725992	2	1	739	1	0	0	0	0	0	0	0	1	8794	1310	46	2		2	LILRB3	19	54725992	Silent	SNP	G	TCGA-KN-8433-01A-11D-2310-10	9334389	54725992	4402991	204	43115											
LILRB2	10288	mdanderson.org	37	19	54778570	54778570	+	Silent	SNP	C	C	T			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr19:54778570C>T	ENST00000391749.4	-	14	2035	c.1764G>A	c.(1762-1764)gaG>gaA	p.E588E	LILRB2_ENST00000391748.1_Silent_p.E587E|LILRB2_ENST00000391746.1_3'UTR|LILRB2_ENST00000434421.1_Silent_p.E472E|LILRB2_ENST00000314446.5_Silent_p.E587E	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	588					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)		AGATGCTGGGCTCAGCTGGAG	0.617																																																0													132	114	120					19																	54778570		2203	4300	6503	SO:0001819	synonymous_variant	10288			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.1764G>A	19.37:g.54778570C>T			A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Silent	SNP	ENST00000391749.4	37	CCDS12886.1																																																																																				0.617	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1			T	54778570	C	T	54778570	2	4	739	1	0	0	0	0	0	0	0	1	8793	796	28	2		2	LILRB2	19	54778570	Silent	SNP	C	TCGA-KN-8433-01A-11D-2310-10	52578	54778570	4350413	205	43116											
LILRB1	10859	mdanderson.org	37	19	55148076	55148076	+	Silent	SNP	G	G	A	rs62133433	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr19:55148076G>A	ENST00000396331.1	+	15	2136	c.1779G>A	c.(1777-1779)gcG>gcA	p.A593A	LILRB1_ENST00000396317.1_Silent_p.A577A|LILRB1_ENST00000448689.1_3'UTR|LILRB1_ENST00000396321.2_Silent_p.A593A|LILRB1_ENST00000396315.1_Silent_p.A595A|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396332.4_Silent_p.A594A|LILRB1_ENST00000324602.7_Silent_p.A595A|LILRB1_ENST00000434867.2_Silent_p.A593A|LILRB1_ENST00000418536.2_Silent_p.A577A|LILRB1_ENST00000427581.2_Silent_p.A644A|AC009892.10_ENST00000456337.1_Intron|LILRB1_ENST00000396327.3_Silent_p.A594A	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	593					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)		ACAGACAGGCGGAAGAGGACA	0.602										HNSCC(37;0.09)																																						0								G	,,,	84,4312	22.3+/-47.3	7,70,2121	98	83	88		1785,1782,1782,1779	-2.6	0	19	dbSNP_129	88	77,8511	6.4+/-24.3	3,71,4220	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	LILRB1	NM_001081637.1,NM_001081638.1,NM_001081639.1,NM_006669.3	,,,	10,141,6341	AA,AG,GG		0.8966,1.9108,1.24	,,,	595/653,594/652,594/652,593/651	55148076	161,12823	2198	4294	6492	SO:0001819	synonymous_variant	10859			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.1779G>A	19.37:g.55148076G>A			A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Silent	SNP	ENST00000396331.1	37	CCDS42617.1																																																																																				0.602	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			A	55148076	G	A	55148076	2	1	739	1	0	0	0	0	0	0	0	1	8792	1103	39	1		1	LILRB1	19	55148076	Silent	SNP	G	TCGA-KN-8433-01A-11D-2310-10	369506	55148076	3980907	206	43117											
LILRB4	11006	mdanderson.org	37	19	55179145	55179145	+	Missense_Mutation	SNP	A	A	T	rs61738946	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr19:55179145A>T	ENST00000391736.1	+	13	1416	c.1101A>T	c.(1099-1101)agA>agT	p.R367S	LILRB4_ENST00000391733.3_Missense_Mutation_p.R368S|LILRB4_ENST00000430952.2_Missense_Mutation_p.R366S|LILRB4_ENST00000391734.3_Intron|LILRB4_ENST00000270452.2_Missense_Mutation_p.R367S	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	367					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)		AACACTCCAGACCTAGGAGAG	0.567																																																0													116	118	117					19																	55179145		2203	4300	6503	SO:0001583	missense	11006			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.1101A>T	19.37:g.55179145A>T	ENSP00000375616:p.Arg367Ser		A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Missense_Mutation	SNP	ENST00000391736.1	37	CCDS12902.1	23	0.010531135531135532	16	0.032520325203252036	2	0.0055248618784530384	0	0.0	5	0.006596306068601583	A	6.892	0.534167	0.13188	.	.	ENSG00000186818	ENST00000391736;ENST00000270452;ENST00000430952;ENST00000391733;ENST00000434286	T;T;T;T;T	0.00505	6.93;6.93;7.0;6.94;6.93	1.73	1.73	0.24493	.	.	.	.	.	T	0.00144	0.0004	L	0.41710	1.295	0.09310	N	1	B;B;B;B	0.23490	0.002;0.086;0.086;0.043	B;B;B;B	0.12837	0.0;0.008;0.008;0.007	T	0.40627	-0.9553	9	0.27785	T	0.31	.	5.5252	0.16955	1.0:0.0:0.0:0.0	rs61738946	366;368;366;367	C9JST2;Q8NHJ6-3;Q8NHJ6-2;Q8NHJ6	.;.;.;LIRB4_HUMAN	S	367;367;366;368;366	ENSP00000375616:R367S;ENSP00000270452:R367S;ENSP00000408995:R366S;ENSP00000375613:R368S;ENSP00000401962:R366S	ENSP00000270452:R367S	R	+	3	2	LILRB4	59870957	0.002000	0.14202	0.018000	0.16275	0.021000	0.10359	0.274000	0.18680	1.054000	0.40438	0.459000	0.35465	AGA		0.567	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141127.3			T	55179145	A	T	55179145	3	4	739	1	0	0	0	0	1	0	0	0	8795	272	10	5	1143	5	LILRB4	19	55179145	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	31069	55179145	3949838	207	43118											
ZSCAN5A	79149	mdanderson.org	37	19	56734014	56734014	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr19:56734014T>C	ENST00000587340.1	-	6	1380	c.685A>G	c.(685-687)Agg>Ggg	p.R229G	ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.R229G|ZSCAN5A_ENST00000587492.1_Missense_Mutation_p.R83G|ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.R112G|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.R229G			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	229					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						TTCTCTTCCCTGTTTTCCTTC	0.507																																																0													210	180	190					19																	56734014		2203	4300	6503	SO:0001583	missense	79149			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.685A>G	19.37:g.56734014T>C	ENSP00000467631:p.Arg229Gly		B4DX98|Q49A73|Q53F04|Q8N7B3	Missense_Mutation	SNP	ENST00000587340.1	37	CCDS12941.1	.	.	.	.	.	.	.	.	.	.	T	7.264	0.605783	0.14002	.	.	ENSG00000131848	ENST00000391713;ENST00000254165	T;T	0.06608	3.28;3.28	2.27	-3.83	0.04269	.	.	.	.	.	T	0.06554	0.0168	M	0.69823	2.125	0.09310	N	1	B;B	0.27229	0.172;0.104	B;B	0.25140	0.058;0.058	T	0.39860	-0.9593	9	0.72032	D	0.01	.	0.4792	0.00545	0.1989:0.3173:0.2012:0.2827	.	112;229	B4DX98;Q9BUG6	.;ZSA5A_HUMAN	G	229;112	ENSP00000375593:R229G;ENSP00000254165:R112G	ENSP00000254165:R112G	R	-	1	2	ZSCAN5A	61425826	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.540000	0.06106	-1.082000	0.03101	-0.366000	0.07423	AGG		0.507	ZSCAN5A-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458110.1	NM_024303		C	56734014	T	C	56734014	3	2	739	1	0	0	0	0	1	0	0	0	18243	1579	55	3	813	3	ZSCAN5A	19	56734014	Missense_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10	1554869	56734014	2394969	208	43119											
ZNF17	7565	mdanderson.org	37	19	57931172	57931172	+	Silent	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr19:57931172A>G	ENST00000601808.1	+	3	525	c.312A>G	c.(310-312)ggA>ggG	p.G104G	ZNF17_ENST00000595206.1_3'UTR|AC004076.7_ENST00000597410.1_Intron|AC003002.6_ENST00000596400.1_Silent_p.G116G|ZNF17_ENST00000307658.7_Silent_p.G106G	NM_006959.2	NP_008890.2	P17021	ZNF17_HUMAN	zinc finger protein 17	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)			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)		AGCATGACGGAACACACCCCA	0.507																																					Melanoma(149;1637 1853 29914 42869 44988)											0													132	129	130					19																	57931172		2203	4300	6503	SO:0001819	synonymous_variant	7565			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.312A>G	19.37:g.57931172A>G			B3KXU2|B3KY20|Q8N7M1|Q8N893|Q8TF54	Silent	SNP	ENST00000601808.1	37	CCDS42636.1																																																																																				0.507	ZNF17-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466384.1	NM_006959		G	57931172	A	G	57931172	2	3	739	1	0	0	0	0	0	0	0	1	17748	233	9	3		3	ZNF17	19	57931172	Silent	SNP	A	TCGA-KN-8433-01A-11D-2310-10	1197158	57931172	1197811	209	43120											
POFUT1	23509	mdanderson.org	37	20	30804433	30804433	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr20:30804433T>C	ENST00000375749.3	+	4	513	c.451T>C	c.(451-453)Ttc>Ctc	p.F151L	POFUT1_ENST00000486717.1_3'UTR|POFUT1_ENST00000539210.1_Intron|POFUT1_ENST00000375730.3_Missense_Mutation_p.F151L	NM_015352.1	NP_056167.1	Q9H488	OFUT1_HUMAN	protein O-fucosyltransferase 1	151					angiogenesis (GO:0001525)|embryo development (GO:0009790)|fucose metabolic process (GO:0006004)|heart development (GO:0007507)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|O-glycan processing (GO:0016266)|protein O-linked fucosylation (GO:0036066)|protein O-linked glycosylation (GO:0006493)|regulation of transcription, DNA-templated (GO:0006355)|somitogenesis (GO:0001756)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	fucosyltransferase activity (GO:0008417)|peptide-O-fucosyltransferase activity (GO:0046922)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	6			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CTTTGGCCCATTCTGGGATCA	0.507																																																0													117	112	114					20																	30804433		2203	4300	6503	SO:0001583	missense	23509			AF375884	CCDS13198.1, CCDS13199.1	20q11	2013-03-06			ENSG00000101346	ENSG00000101346	2.4.1.221	"Fucosyltransferases"	14988	protein-coding gene	gene with protein product	"peptide-O-fucosyltransferase", "GDP-fucose protein O-fucosyltransferase 1"	607491				9023546, 9525914	Standard	NM_015352		Approved	O-FUT, O-Fuc-T, KIAA0180, FUT12	uc002wxp.3	Q9H488	OTTHUMG00000133268	ENST00000375749.3:c.451T>C	20.37:g.30804433T>C	ENSP00000364902:p.Phe151Leu		A8K4R8|E1P5M4|Q14685|Q5W185|Q9BW76	Missense_Mutation	SNP	ENST00000375749.3	37	CCDS13198.1	.	.	.	.	.	.	.	.	.	.	T	33	5.197325	0.94960	.	.	ENSG00000101346	ENST00000375749;ENST00000375730	T;T	0.31510	1.49;1.49	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.65112	0.2660	M	0.90870	3.155	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.996	T	0.73975	-0.3813	10	0.87932	D	0	.	16.2041	0.82108	0.0:0.0:0.0:1.0	.	151;151	Q9H488;Q9H488-2	OFUT1_HUMAN;.	L	151	ENSP00000364902:F151L;ENSP00000364882:F151L	ENSP00000364882:F151L	F	+	1	0	POFUT1	30268094	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.444000	0.80532	2.219000	0.72066	0.533000	0.62120	TTC		0.507	POFUT1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078613.1	NM_015352		C	30804433	T	C	30804433	3	2	739	1	0	0	0	0	1	0	0	0	12185	1493	52	3	465	3	POFUT1	20	30804433	Missense_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10		30804433	32221087	210	43121											
SLA2	84174	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	20	35262937	35262937	+	Silent	SNP	G	G	A	rs374910927		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr20:35262937G>A	ENST00000262866.4	-	3	569	c.147C>T	c.(145-147)gcC>gcT	p.A49A	SLA2_ENST00000360672.2_Silent_p.A49A	NM_032214.3|NM_175077.2	NP_115590.1|NP_778252.1	Q9H6Q3	SLAP2_HUMAN	Src-like-adaptor 2	49	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				antigen receptor-mediated signaling pathway (GO:0050851)|B cell mediated immunity (GO:0019724)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of B cell activation (GO:0050869)|negative regulation of calcium-mediated signaling (GO:0050849)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of signal transduction (GO:0009967)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome membrane (GO:0010008)|late endosome (GO:0005770)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)|SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|lung(2)|skin(2)	5	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				GCGACAGCTCGGCCGGGCCAC	0.577																																					Ovarian(59;720 1165 26994 46188 51693)											0								G	,	0,4406		0,0,2203	46	43	44		147,147	-2.4	0.1	20		44	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SLA2	NM_032214.2,NM_175077.1	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	49/262,49/211	35262937	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84174			AF326353	CCDS13282.1, CCDS13283.1	20q11.23	2013-02-14			ENSG00000101082	ENSG00000101082		"SH2 domain containing"	17329	protein-coding gene	gene with protein product		606577		C20orf156		11696592	Standard	NM_032214		Approved	FLJ21992, SLAP-2	uc002xfv.3	Q9H6Q3	OTTHUMG00000032393	ENST00000262866.4:c.147C>T	20.37:g.35262937G>A			A8K648|E1P5U1|E1P5U2|Q5TH27|Q5TH28|Q8WY18|Q96QI4|Q9H135	Silent	SNP	ENST00000262866.4	37	CCDS13282.1																																																																																				0.577	SLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079037.2	NM_175077		A	35262937	G	A	35262937	2	1	739	1	0	0	0	0	0	0	0	1	14370	1103	39	1		1	SLA2	20	35262937	Silent	SNP	G	TCGA-KN-8433-01A-11D-2310-10	4458504	35262937	27762583	211	43122											
ZNF334	55713	mdanderson.org	37	20	45131515	45131515	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr20:45131515T>C	ENST00000347606.4	-	5	645	c.463A>G	c.(463-465)Agc>Ggc	p.S155G	ZNF334_ENST00000593880.1_Missense_Mutation_p.S178G|ZNF334_ENST00000457685.2_Missense_Mutation_p.S117G	NM_018102.4	NP_060572.3	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	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)|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)				TTTTCTTTGCTTTTCTTTGCA	0.353																																																0													116	103	107					20																	45131515		2202	4300	6502	SO:0001583	missense	55713			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.463A>G	20.37:g.45131515T>C	ENSP00000255129:p.Ser155Gly		Q5T6U2|Q9NVW4	Missense_Mutation	SNP	ENST00000347606.4	37	CCDS33480.1	.	.	.	.	.	.	.	.	.	.	T	13.26	2.184182	0.38609	.	.	ENSG00000198185	ENST00000457685;ENST00000347606	T;T	0.08896	3.27;3.04	2.96	2.96	0.34315	.	.	.	.	.	T	0.07458	0.0188	L	0.39467	1.215	0.22127	N	0.99934	B;B;B	0.20887	0.049;0.027;0.049	B;B;B	0.22386	0.027;0.027;0.039	T	0.28681	-1.0036	9	0.34782	T	0.22	.	6.2248	0.20701	0.0:0.0:0.2596:0.7404	.	117;155;178	B3KQ93;Q9HCZ1;Q8N3P8	.;ZN334_HUMAN;.	G	117;155	ENSP00000402582:S117G;ENSP00000255129:S155G	ENSP00000255129:S155G	S	-	1	0	ZNF334	44564922	0.149000	0.22717	0.692000	0.30179	0.677000	0.39632	0.787000	0.26858	1.360000	0.45960	0.260000	0.18958	AGC		0.353	ZNF334-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079575.1			C	45131515	T	C	45131515	3	2	739	1	0	0	0	0	1	0	0	0	17856	1609	56	3	1583	3	ZNF334	20	45131515	Missense_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10	9868578	45131515	17894005	212	43123											
PFDN4	5203	mdanderson.org	37	20	52830988	52830988	+	Silent	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr20:52830988A>G	ENST00000371419.2	+	2	377	c.123A>G	c.(121-123)gaA>gaG	p.E41E	PFDN4_ENST00000487129.1_3'UTR	NM_002623.3	NP_002614.2	Q9NQP4	PFD4_HUMAN	prefoldin subunit 4	41					'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)			AAGAAATAGAAGTAAAAAAGG	0.284																																																0													20	19	20					20																	52830988		2202	4291	6493	SO:0001819	synonymous_variant	5203			U41816	CCDS13445.1	20q13.2	2008-07-02	2006-02-24		ENSG00000101132	ENSG00000101132			8868	protein-coding gene	gene with protein product		604898	"prefoldin 4"			9630229, 8744932	Standard	NM_002623		Approved	PFD4, C-1, C1	uc002xwx.3	Q9NQP4	OTTHUMG00000032775	ENST00000371419.2:c.123A>G	20.37:g.52830988A>G			Q5TD11|Q92779	Silent	SNP	ENST00000371419.2	37	CCDS13445.1																																																																																				0.284	PFDN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079771.2	NM_002623		G	52830988	A	G	52830988	2	3	739	1	0	0	0	0	0	0	0	1	11759	69	3	3		3	PFDN4	20	52830988	Silent	SNP	A	TCGA-KN-8433-01A-11D-2310-10	7699473	52830988	10194532	213	43124											
UCKL1	54963	broad.mit.edu	37	20	62576011	62576011	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr20:62576011delT	ENST00000354216.6	-	6	773	c.731delA	c.(730-732)gagfs	p.E244fs	UCKL1_ENST00000492660.1_5'Flank|MIR647_ENST00000384823.1_RNA|UCKL1_ENST00000369908.5_Frame_Shift_Del_p.E229fs|UCKL1_ENST00000369892.3_Frame_Shift_Del_p.E244fs|UCKL1_ENST00000358711.3_Frame_Shift_Del_p.E244fs	NM_017859.3	NP_060329.2	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	244					CTP salvage (GO:0044211)|UMP salvage (GO:0044206)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|uridine kinase activity (GO:0004849)			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CCGGCCGCGCTCACTGATGTC	0.602																																																0													123	79	94					20																	62576011		2199	4298	6497	SO:0001589	frameshift_variant	54963			AK000524	CCDS13547.1, CCDS54479.1	20q13.33	2012-09-20	2004-07-13	2004-07-13	ENSG00000198276	ENSG00000198276			15938	protein-coding gene	gene with protein product		610866	"uridine kinase-like 1"	URKL1			Standard	NM_017859		Approved	FLJ20517	uc010gkn.3	Q9NWZ5	OTTHUMG00000033003	ENST00000354216.6:c.731delA	20.37:g.62576011delT	ENSP00000346155:p.Glu244fs		B7Z8N2|Q5JWV0|Q70AQ5|Q8N524|Q9H3Z2	Frame_Shift_Del	DEL	ENST00000354216.6	37	CCDS13547.1																																																																																				0.602	UCKL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080236.1	NM_017859		-	62576011	T	-	62576011	7	5	739	1	0	1	0	1	0	0	0	0	16930	1551	54	0	955	0	UCKL1	20	62576011	Frame_Shift_Del	DEL	T	TCGA-KN-8433-01A-11D-2310-10	9745023	62576011	449509	214	43125											
NRIP1	8204	mdanderson.org	37	21	16338989	16338989	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr21:16338989T>C	ENST00000400202.1	-	3	2237	c.1525A>G	c.(1525-1527)Aat>Gat	p.N509D	AF127577.10_ENST00000446301.1_RNA|NRIP1_ENST00000400199.1_Missense_Mutation_p.N509D|NRIP1_ENST00000318948.4_Missense_Mutation_p.N509D			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	509	Repression domain 2.				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)		TTTTCTTCATTCTTATGGCCA	0.368																																																0													196	189	191					21																	16338989		2203	4300	6503	SO:0001583	missense	8204			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.1525A>G	21.37:g.16338989T>C	ENSP00000383063:p.Asn509Asp		Q8IWE8	Missense_Mutation	SNP	ENST00000400202.1	37	CCDS13568.1	.	.	.	.	.	.	.	.	.	.	T	13.14	2.149415	0.37923	.	.	ENSG00000180530	ENST00000400199;ENST00000400202;ENST00000318948	T;T;T	0.18810	2.19;2.19;2.19	5.68	4.49	0.54785	.	0.381500	0.28203	N	0.016205	T	0.13927	0.0337	L	0.34521	1.04	0.30218	N	0.797058	P	0.39480	0.675	B	0.39258	0.295	T	0.05115	-1.0905	10	0.15066	T	0.55	-1.9487	7.4965	0.27492	0.0:0.0713:0.1435:0.7852	.	509	P48552	NRIP1_HUMAN	D	509	ENSP00000383060:N509D;ENSP00000383063:N509D;ENSP00000327213:N509D	ENSP00000327213:N509D	N	-	1	0	NRIP1	15260860	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.773000	0.62331	2.170000	0.68504	0.528000	0.53228	AAT		0.368	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1	NM_003489		C	16338989	T	C	16338989	3	2	739	1	0	0	0	0	1	0	0	0	10654	1783	62	3	1955	3	NRIP1	21	16338989	Missense_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10		16338989	31790906	215	43126											
TMPRSS15	5651	mdanderson.org	37	21	19726118	19726118	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr21:19726118A>G	ENST00000284885.3	-	9	976	c.943T>C	c.(943-945)Ttt>Ctt	p.F315L		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	315	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						TCTATAAGAAAGGTGGCAGTA	0.294																																																0													68	73	71					21																	19726118		2203	4289	6492	SO:0001583	missense	5651				CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"Serine peptidases / Transmembrane"	9490	protein-coding gene	gene with protein product	"proenterokinase", "enteropeptidase"	606635	"protease, serine, 7 (enterokinase)"	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.943T>C	21.37:g.19726118A>G	ENSP00000284885:p.Phe315Leu		Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.226273	0.79576	.	.	ENSG00000154646	ENST00000284885	T	0.33654	1.4	4.46	4.46	0.54185	CUB (5);	0.000000	0.64402	D	0.000001	T	0.45597	0.1350	L	0.55103	1.725	0.47341	D	0.999396	P	0.52692	0.955	P	0.54060	0.741	T	0.36359	-0.9751	9	.	.	.	.	12.7079	0.57073	1.0:0.0:0.0:0.0	.	315	P98073	ENTK_HUMAN	L	315	ENSP00000284885:F315L	.	F	-	1	0	TMPRSS15	18647989	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	5.657000	0.67996	1.878000	0.54408	0.454000	0.30748	TTT		0.294	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		G	19726118	A	G	19726118	3	3	739	1	0	0	0	0	1	0	0	0	16251	72	3	3	2184	3	TMPRSS15	21	19726118	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	3387129	19726118	28403777	216	43127											
SON	6651	mdanderson.org	37	21	34924913	34924913	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr21:34924913T>C	ENST00000356577.4	+	3	3851	c.3376T>C	c.(3376-3378)Tct>Cct	p.S1126P	SON_ENST00000290239.6_Missense_Mutation_p.S1126P|SON_ENST00000381679.4_Missense_Mutation_p.S1126P|SON_ENST00000381692.2_Intron|SON_ENST00000300278.4_Missense_Mutation_p.S1126P	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	1126	14 X 6 AA repeats of [ED]-R-S-M-M-S.				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						TTCAATGATGTCTATGGCTGC	0.473																																																0													205	167	180					21																	34924913		2203	4300	6503	SO:0001583	missense	6651			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.3376T>C	21.37:g.34924913T>C	ENSP00000348984:p.Ser1126Pro		D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	CCDS13629.1	.	.	.	.	.	.	.	.	.	.	T	15.56	2.869029	0.51588	.	.	ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679	T;T;T;T	0.19669	2.29;2.28;2.26;2.13	5.79	5.79	0.91817	.	0.000000	0.50627	D	0.000115	T	0.40595	0.1123	L	0.54323	1.7	0.38795	D	0.955079	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;D;D;D;D	0.85130	0.997;0.993;0.997;0.997;0.997	T	0.26087	-1.0113	10	0.45353	T	0.12	.	12.5272	0.56093	0.0:0.0:0.0:1.0	.	1126;1126;807;1126;1126	P18583-10;P18583;P18583-2;P18583-3;P18583-6	.;SON_HUMAN;.;.;.	P	1126	ENSP00000348984:S1126P;ENSP00000290239:S1126P;ENSP00000300278:S1126P;ENSP00000371095:S1126P	ENSP00000290239:S1126P	S	+	1	0	SON	33846783	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.046000	0.57376	2.207000	0.71202	0.533000	0.62120	TCT		0.473	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		C	34924913	T	C	34924913	3	2	739	1	0	0	0	0	1	0	0	0	14932	1667	58	3	3386	3	SON	21	34924913	Missense_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10	15198795	34924913	13204982	217	43128											
ZNF295	49854	mdanderson.org	37	21	43411206	43411206	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr21:43411206T>C	ENST00000310826.5	-	3	3182	c.2999A>G	c.(2998-3000)gAg>gGg	p.E1000G	ZBTB21_ENST00000398505.3_Missense_Mutation_p.E799G|ZBTB21_ENST00000398511.3_Missense_Mutation_p.E1000G|ZBTB21_ENST00000465968.1_5'Flank|ZBTB21_ENST00000398499.1_Missense_Mutation_p.E1000G	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	1000					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)										GCTGTCAGGCTCCAGAGGCTG	0.572																																																0													78	86	83					21																	43411206		2203	4300	6503	SO:0001583	missense	49854			AB033053	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	13083	protein-coding gene	gene with protein product			"zinc finger protein 295"	ZNF295			Standard	NM_020727		Approved	KIAA1227	uc002yzy.4	Q9ULJ3	OTTHUMG00000086789	ENST00000310826.5:c.2999A>G	21.37:g.43411206T>C	ENSP00000308759:p.Glu1000Gly		Q5R2W1|Q5R2W2|Q6P4R0	Missense_Mutation	SNP	ENST00000310826.5	37	CCDS13678.1	.	.	.	.	.	.	.	.	.	.	T	16.76	3.212603	0.58452	.	.	ENSG00000173276	ENST00000398505;ENST00000310826;ENST00000398499;ENST00000398511	T;T;T;T	0.08370	3.42;3.1;3.1;3.1	5.5	5.5	0.81552	.	0.531808	0.18360	N	0.143585	T	0.06188	0.0160	N	0.19112	0.55	0.58432	D	0.999996	B;P	0.35328	0.112;0.495	B;B	0.28465	0.02;0.09	T	0.49707	-0.8911	10	0.25106	T	0.35	-19.2238	15.6171	0.76775	0.0:0.0:0.0:1.0	.	799;1000	Q9ULJ3-2;Q9ULJ3	.;ZN295_HUMAN	G	799;1000;1000;1000	ENSP00000381517:E799G;ENSP00000308759:E1000G;ENSP00000381512:E1000G;ENSP00000381523:E1000G	ENSP00000308759:E1000G	E	-	2	0	ZNF295	42284275	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.552000	0.45828	2.096000	0.63516	0.533000	0.62120	GAG		0.572	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195308.1	NM_020727		C	43411206	T	C	43411206	3	2	739	1	0	0	0	0	1	0	0	0	17832	1551	54	3	205	3	ZNF295	21	43411206	Missense_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10	8486293	43411206	4718689	218	43129											
RFPL1	5988	mdanderson.org	37	22	29837976	29837976	+	Silent	SNP	C	C	A			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr22:29837976C>A	ENST00000354373.2	+	2	1028	c.819C>A	c.(817-819)gtC>gtA	p.V273V	RFPL1S_ENST00000539579.1_RNA|RFPL1S_ENST00000461286.3_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	273	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)	p.V273V(2)		endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						TCAGGAGTGTCTCTGCTGAGG	0.468																																																2	Substitution - coding silent(2)	lung(1)|endometrium(1)											116	96	103					22																	29837976		2203	4300	6503	SO:0001819	synonymous_variant	5988			AJ010228	CCDS13857.2	22q12	2006-04-25			ENSG00000128250	ENSG00000128250		"RING-type (C3HC4) zinc fingers"	9977	protein-coding gene	gene with protein product		605968				10508838	Standard	NM_021026		Approved	RNF78	uc003afn.3	O75677	OTTHUMG00000150516	ENST00000354373.2:c.819C>A	22.37:g.29837976C>A			Q6IC06|Q9UJ97	Silent	SNP	ENST00000354373.2	37	CCDS13857.2																																																																																				0.468	RFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318719.1	NM_021026		A	29837976	C	A	29837976	2	1	739	1	0	0	0	0	0	0	0	1	13259	900	32	4		4	RFPL1	22	29837976	Silent	SNP	C	TCGA-KN-8433-01A-11D-2310-10		29837976	21466590	219	43130											
SGSM3	27352	mdanderson.org	37	22	40802191	40802191	+	Silent	SNP	G	G	T			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr22:40802191G>T	ENST00000248929.9	+	9	1113	c.924G>T	c.(922-924)gtG>gtT	p.V308V	SGSM3_ENST00000454798.2_Silent_p.V241V	NM_015705.4	NP_056520.2			small G protein signaling modulator 3											cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						GCTCCCGGGTGCTGTTCCAGC	0.627																																																0													73	64	67					22																	40802191		2203	4300	6503	SO:0001819	synonymous_variant	27352			AL022238	CCDS14002.1	22q13.1-q13.2	2013-07-09	2007-08-14	2007-08-14	ENSG00000100359	ENSG00000100359		"Small G protein signaling modulators"	25228	protein-coding gene	gene with protein product	"RUN and SH3 containing 3"	610440	"RUN and TBC1 domain containing 3"	RUTBC3		11214971, 17509819	Standard	XM_005261572		Approved	DJ1042K10.2, RUSC3, RabGAP-5, RABGAP5	uc003ayu.1	Q96HU1	OTTHUMG00000151141	ENST00000248929.9:c.924G>T	22.37:g.40802191G>T				Silent	SNP	ENST00000248929.9	37	CCDS14002.1																																																																																				0.627	SGSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321504.2	NM_015705		T	40802191	G	T	40802191	2	4	739	1	0	0	0	0	0	0	0	1	14230	1306	46	4		4	SGSM3	22	40802191	Silent	SNP	G	TCGA-KN-8433-01A-11D-2310-10	10964215	40802191	10502375	220	43131											
CYP2D6	1565	mdanderson.org	37	22	42525176	42525176	+	Missense_Mutation	SNP	C	C	A	rs1135823	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr22:42525176C>A	ENST00000360608.5	-	3	478	c.364G>T	c.(364-366)Gcg>Tcg	p.A122S	NDUFA6-AS1_ENST00000439129.1_RNA|CYP2D6_ENST00000359033.4_Intron|CYP2D6_ENST00000389970.3_Missense_Mutation_p.A122S|NDUFA6-AS1_ENST00000416037.2_RNA|NDUFA6-AS1_ENST00000608288.1_RNA|NDUFA6-AS1_ENST00000608491.1_RNA	NM_000106.5	NP_000097	P10635	CP2D6_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	122					alkaloid catabolic process (GO:0009822)|alkaloid metabolic process (GO:0009820)|coumarin metabolic process (GO:0009804)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|isoquinoline alkaloid metabolic process (GO:0033076)|monoterpenoid metabolic process (GO:0016098)|negative regulation of binding (GO:0051100)|negative regulation of cellular organofluorine metabolic process (GO:0090350)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21					Abiraterone(DB05812)|Acebutolol(DB01193)|Acetaminophen(DB00316)|Ajmaline(DB01426)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alprenolol(DB00866)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amoxapine(DB00543)|Amphetamine(DB00182)|Amprenavir(DB00701)|Amsacrine(DB00276)|Antipyrine(DB01435)|Aprindine(DB01429)|Arformoterol(DB01274)|Aripiprazole(DB01238)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzatropine(DB00245)|Benzyl alcohol(DB06770)|Bepridil(DB01244)|Betaxolol(DB00195)|Bicalutamide(DB01128)|Biperiden(DB00810)|Bisoprolol(DB00612)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Caffeine(DB00201)|Captopril(DB01197)|Carbinoxamine(DB00748)|Carteolol(DB00521)|Carvedilol(DB01136)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Cisapride(DB00604)|Citalopram(DB00215)|Clemastine(DB00283)|Clevidipine(DB04920)|Clomipramine(DB01242)|Clonidine(DB00575)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Darifenacin(DB00496)|Debrisoquin(DB04840)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dihydrocodeine(DB01551)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronedarone(DB04855)|Duloxetine(DB00476)|Efavirenz(DB00625)|Eletriptan(DB00216)|Encainide(DB01228)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erlotinib(DB00530)|Escitalopram(DB01175)|Ethylmorphine(DB01466)|Etoricoxib(DB01628)|Felodipine(DB01023)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fingolimod(DB08868)|Flecainide(DB01195)|Flunarizine(DB04841)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Galantamine(DB00674)|Gefitinib(DB00317)|Glutethimide(DB01437)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Histamine Phosphate(DB00667)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Hydroxychloroquine(DB01611)|Hydroxyurea(DB01005)|Hydroxyzine(DB00557)|Idarubicin(DB01177)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Isoniazid(DB00951)|Itraconazole(DB01167)|Ketoconazole(DB01026)|L-DOPA(DB01235)|Labetalol(DB00598)|Lansoprazole(DB00448)|Lercanidipine(DB00528)|Levomilnacipran(DB08918)|Lidocaine(DB00281)|Lisuride(DB00589)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Lovastatin(DB00227)|Lumefantrine(DB06708)|Maprotiline(DB00934)|Mefloquine(DB00358)|Mepyramine(DB06691)|Mequitazine(DB01071)|Mesoridazine(DB00933)|Methadone(DB00333)|Methamphetamine(DB01577)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Methylnaltrexone(DB06800)|Methylphenidate(DB00422)|Methyprylon(DB01107)|Metoclopramide(DB01233)|Metoprolol(DB00264)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midodrine(DB00211)|Mifepristone(DB00834)|Minaprine(DB00805)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Morphine(DB00295)|Nateglinide(DB00731)|Nebivolol(DB04861)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niacin(DB00627)|Nicardipine(DB00622)|Nicergoline(DB00699)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitrofural(DB00336)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxamniquine(DB01096)|Oxprenolol(DB01580)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paliperidone(DB01267)|Palonosetron(DB00377)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Pergolide(DB01186)|Perhexiline(DB01074)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenformin(DB00914)|Phentermine(DB00191)|Pimozide(DB01100)|Pindolol(DB00960)|Pioglitazone(DB01132)|Piperazine(DB00592)|Pipotiazine(DB01621)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Primaquine(DB01087)|Procainamide(DB01035)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Pyrimethamine(DB00205)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Remoxipride(DB00409)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivastigmine(DB00989)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tapentadol(DB06204)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Terbinafine(DB00857)|Tetrabenazine(DB04844)|Theophylline(DB00277)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Timolol(DB00373)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tolterodine(DB01036)|Trabectedin(DB05109)|Tramadol(DB00193)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Trospium(DB00209)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vinorelbine(DB00361)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Ziprasidone(DB00246)|Zolpidem(DB00425)	CCATAGCGCGCCAGGAACACC	0.672													C|||	2	0.000399361	0.0	0.0	5008	,	,		17374	0.0		0.001	False		,,,				2504	0.001															0								C	SER/ALA,	1,4049		0,1,2024	20	24	23		364,	4	0	22	dbSNP_86	23	1,8325		0,1,4162	no	missense,intron	CYP2D6	NM_000106.4,NM_001025161.1	99,	0,2,6186	AA,AC,CC		0.012,0.0247,0.0162	benign,	122/498,	42525176	2,12374	2025	4163	6188	SO:0001583	missense	1565			M20403	CCDS33657.1, CCDS46721.1	22q13.1	2014-09-17	2003-01-14		ENSG00000100197	ENSG00000100197		"Cytochrome P450s"	2625	protein-coding gene	gene with protein product		124030	"cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6", "cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2", "cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2", "cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2", "cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2"	CYP2DL1, CYP2D7P2, CYP2D7BP, CYP2D8P2, CYP2D7AP		8449513	Standard	NM_000106		Approved	CPD6, P450-DB1, CYP2D, P450C2D	uc003bce.3	P10635	OTTHUMG00000150918	ENST00000360608.5:c.364G>T	22.37:g.42525176C>A	ENSP00000353820:p.Ala122Ser		Q16752|Q2XND6|Q2XND7|Q2XNE0|Q6B012|Q6NXU8	Missense_Mutation	SNP	ENST00000360608.5	37	CCDS46721.1	.	.	.	.	.	.	.	.	.	.	c	11.04	1.521346	0.27211	2.47E-4	1.2E-4	ENSG00000100197	ENST00000360608;ENST00000389970;ENST00000413640	T;T	0.68765	-0.35;-0.35	3.99	3.99	0.46301	.	0.310469	0.26331	N	0.024999	T	0.65004	0.2650	N	0.24115	0.695	0.09310	N	1	B	0.25743	0.133	P	0.48654	0.585	T	0.56086	-0.8037	10	0.10636	T	0.68	.	14.3635	0.66789	0.0:1.0:0.0:0.0	rs1135823;rs17362183	122	Q6NWU0	.	S	122;122;71	ENSP00000353820:A122S;ENSP00000374620:A122S	ENSP00000353820:A122S	A	-	1	0	CYP2D6	40855120	0.438000	0.25602	0.029000	0.17559	0.042000	0.13812	2.317000	0.43770	2.157000	0.67596	0.305000	0.20034	GCG		0.672	CYP2D6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320525.1			A	42525176	C	A	42525176	3	1	739	1	0	0	0	0	1	0	0	0	4171	739	26	4	1157	4	CYP2D6	22	42525176	Missense_Mutation	SNP	C	TCGA-KN-8433-01A-11D-2310-10	1722985	42525176	8779390	221	43132	413	2									
CYP2D6	1565	mdanderson.org	37	22	42525182	42525182	+	Missense_Mutation	SNP	A	A	T	rs1135822		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr22:42525182A>T	ENST00000360608.5	-	3	472	c.358T>A	c.(358-360)Ttc>Atc	p.F120I	NDUFA6-AS1_ENST00000439129.1_RNA|CYP2D6_ENST00000359033.4_Intron|CYP2D6_ENST00000389970.3_Missense_Mutation_p.F120I|NDUFA6-AS1_ENST00000416037.2_RNA|NDUFA6-AS1_ENST00000608288.1_RNA|NDUFA6-AS1_ENST00000608491.1_RNA	NM_000106.5	NP_000097	P10635	CP2D6_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	120			F -> I (in dbSNP:rs1135822). {ECO:0000269|PubMed:15469410}.		alkaloid catabolic process (GO:0009822)|alkaloid metabolic process (GO:0009820)|coumarin metabolic process (GO:0009804)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|isoquinoline alkaloid metabolic process (GO:0033076)|monoterpenoid metabolic process (GO:0016098)|negative regulation of binding (GO:0051100)|negative regulation of cellular organofluorine metabolic process (GO:0090350)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21					Abiraterone(DB05812)|Acebutolol(DB01193)|Acetaminophen(DB00316)|Ajmaline(DB01426)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alprenolol(DB00866)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amoxapine(DB00543)|Amphetamine(DB00182)|Amprenavir(DB00701)|Amsacrine(DB00276)|Antipyrine(DB01435)|Aprindine(DB01429)|Arformoterol(DB01274)|Aripiprazole(DB01238)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzatropine(DB00245)|Benzyl alcohol(DB06770)|Bepridil(DB01244)|Betaxolol(DB00195)|Bicalutamide(DB01128)|Biperiden(DB00810)|Bisoprolol(DB00612)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Caffeine(DB00201)|Captopril(DB01197)|Carbinoxamine(DB00748)|Carteolol(DB00521)|Carvedilol(DB01136)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Cisapride(DB00604)|Citalopram(DB00215)|Clemastine(DB00283)|Clevidipine(DB04920)|Clomipramine(DB01242)|Clonidine(DB00575)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Darifenacin(DB00496)|Debrisoquin(DB04840)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dihydrocodeine(DB01551)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronedarone(DB04855)|Duloxetine(DB00476)|Efavirenz(DB00625)|Eletriptan(DB00216)|Encainide(DB01228)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erlotinib(DB00530)|Escitalopram(DB01175)|Ethylmorphine(DB01466)|Etoricoxib(DB01628)|Felodipine(DB01023)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fingolimod(DB08868)|Flecainide(DB01195)|Flunarizine(DB04841)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Galantamine(DB00674)|Gefitinib(DB00317)|Glutethimide(DB01437)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Histamine Phosphate(DB00667)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Hydroxychloroquine(DB01611)|Hydroxyurea(DB01005)|Hydroxyzine(DB00557)|Idarubicin(DB01177)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Isoniazid(DB00951)|Itraconazole(DB01167)|Ketoconazole(DB01026)|L-DOPA(DB01235)|Labetalol(DB00598)|Lansoprazole(DB00448)|Lercanidipine(DB00528)|Levomilnacipran(DB08918)|Lidocaine(DB00281)|Lisuride(DB00589)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Lovastatin(DB00227)|Lumefantrine(DB06708)|Maprotiline(DB00934)|Mefloquine(DB00358)|Mepyramine(DB06691)|Mequitazine(DB01071)|Mesoridazine(DB00933)|Methadone(DB00333)|Methamphetamine(DB01577)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Methylnaltrexone(DB06800)|Methylphenidate(DB00422)|Methyprylon(DB01107)|Metoclopramide(DB01233)|Metoprolol(DB00264)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midodrine(DB00211)|Mifepristone(DB00834)|Minaprine(DB00805)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Morphine(DB00295)|Nateglinide(DB00731)|Nebivolol(DB04861)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niacin(DB00627)|Nicardipine(DB00622)|Nicergoline(DB00699)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitrofural(DB00336)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxamniquine(DB01096)|Oxprenolol(DB01580)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paliperidone(DB01267)|Palonosetron(DB00377)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Pergolide(DB01186)|Perhexiline(DB01074)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenformin(DB00914)|Phentermine(DB00191)|Pimozide(DB01100)|Pindolol(DB00960)|Pioglitazone(DB01132)|Piperazine(DB00592)|Pipotiazine(DB01621)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Primaquine(DB01087)|Procainamide(DB01035)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Pyrimethamine(DB00205)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Remoxipride(DB00409)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivastigmine(DB00989)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tapentadol(DB06204)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Terbinafine(DB00857)|Tetrabenazine(DB04844)|Theophylline(DB00277)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Timolol(DB00373)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tolterodine(DB01036)|Trabectedin(DB05109)|Tramadol(DB00193)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Trospium(DB00209)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vinorelbine(DB00361)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Ziprasidone(DB00246)|Zolpidem(DB00425)	CGCGCCAGGAACACCCCTGGG	0.677																																																0								T	ILE/PHE,	2,4056		0,2,2027	20	24	23		358,	-8	0	22	dbSNP_86	23	1,8335		0,1,4167	yes	missense,intron	CYP2D6	NM_000106.4,NM_001025161.1	21,	0,3,6194	TT,TA,AA		0.012,0.0493,0.0242	benign,	120/498,	42525182	3,12391	2029	4168	6197	SO:0001583	missense	1565			M20403	CCDS33657.1, CCDS46721.1	22q13.1	2014-09-17	2003-01-14		ENSG00000100197	ENSG00000100197		"Cytochrome P450s"	2625	protein-coding gene	gene with protein product		124030	"cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6", "cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2", "cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2", "cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2", "cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2"	CYP2DL1, CYP2D7P2, CYP2D7BP, CYP2D8P2, CYP2D7AP		8449513	Standard	NM_000106		Approved	CPD6, P450-DB1, CYP2D, P450C2D	uc003bce.3	P10635	OTTHUMG00000150918	ENST00000360608.5:c.358T>A	22.37:g.42525182A>T	ENSP00000353820:p.Phe120Ile		Q16752|Q2XND6|Q2XND7|Q2XNE0|Q6B012|Q6NXU8	Missense_Mutation	SNP	ENST00000360608.5	37	CCDS46721.1	.	.	.	.	.	.	.	.	.	.	t	0.353	-0.944029	0.02322	4.93E-4	1.2E-4	ENSG00000100197	ENST00000360608;ENST00000389970;ENST00000413640	T;T	0.67865	-0.29;-0.29	3.99	-7.98	0.01135	.	2.701080	0.01780	N	0.031683	T	0.29126	0.0724	N	0.01751	-0.74	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41752	-0.9491	10	0.05436	T	0.98	.	4.0552	0.09813	0.1994:0.466:0.0957:0.2389	rs1135822;rs17362176;rs28371707	120	Q6NWU0	.	I	120;120;69	ENSP00000353820:F120I;ENSP00000374620:F120I	ENSP00000353820:F120I	F	-	1	0	CYP2D6	40855126	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-5.990000	0.00086	-2.458000	0.00538	-0.867000	0.03001	TTC		0.677	CYP2D6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320525.1			T	42525182	A	T	42525182	3	4	739	1	0	0	0	0	1	0	0	0	4171	43	2	5	1163	5	CYP2D6	22	42525182	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	6	42525182	8779384	222	43133	413	2									
RRP7A	27341	mdanderson.org	37	22	42910784	42910784	+	Splice_Site	SNP	C	C	T			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr22:42910784C>T	ENST00000323013.6	-	5	477	c.462G>A	c.(460-462)aaG>aaA	p.K154K	SERHL_ENST00000359906.2_RNA	NM_015703.4	NP_056518.2	Q9Y3A4	RRP7A_HUMAN	ribosomal RNA processing 7 homolog A (S. cerevisiae)	154							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.K154K(1)		central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	10						CACTGATCCACTCTGAGGAAA	0.602																																																1	Substitution - coding silent(1)	prostate(1)											46	50	49					22																	42910784		2189	4299	6488	SO:0001630	splice_region_variant	27341			BC035992	CCDS14036.1	22q13.2	2008-08-08			ENSG00000189306	ENSG00000189306			24286	protein-coding gene	gene with protein product						10810093, 12087473	Standard	NM_015703		Approved	CGI-96	uc003bcq.3	Q9Y3A4	OTTHUMG00000150891	ENST00000323013.6:c.461-1G>A	22.37:g.42910784C>T			A4FTX2|B2RBG4|Q0VAD0|Q5JZ94|Q6P4B5|Q8IVR9|Q8IVY0|Q8N5Q3|Q8NEY6|Q9Y3H5	Silent	SNP	ENST00000323013.6	37	CCDS14036.1																																																																																				0.602	RRP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320451.1	NM_015703	Silent	T	42910784	C	T	42910784	5	4	739	1	0	0	0	0	0	0	1	0	13695	579	20	2	392	2	RRP7A	22	42910784	Splice_Site	SNP	C	TCGA-KN-8433-01A-11D-2310-10	385602	42910784	8393782	223	43134											
NLGN4X	57502	mdanderson.org	37	X	5810997	5810997	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:5810997A>G	ENST00000381095.3	-	6	2939	c.2312T>C	c.(2311-2313)aTc>aCc	p.I771T	NLGN4X_ENST00000538097.1_Missense_Mutation_p.I771T|NLGN4X_ENST00000381093.2_Missense_Mutation_p.I791T|NLGN4X_ENST00000381092.1_Missense_Mutation_p.I771T|NLGN4X_ENST00000275857.6_Missense_Mutation_p.I771T	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	771					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						CATAAGTGGGATGTCATCTGG	0.552																																																0													289	236	254					X																	5810997		2203	4300	6503	SO:0001583	missense	57502			AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"neuroligin 4"	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.2312T>C	X.37:g.5810997A>G	ENSP00000370485:p.Ile771Thr		Q6UX10|Q9ULG0	Missense_Mutation	SNP	ENST00000381095.3	37	CCDS14126.1	.	.	.	.	.	.	.	.	.	.	A	10.52	1.373663	0.24857	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	T;T;T;T;T	0.16457	2.34;2.34;2.34;2.34;2.34	3.82	3.82	0.43975	.	0.737822	0.11161	N	0.593064	T	0.24122	0.0584	L	0.59436	1.845	0.50039	D	0.999846	P;P;P	0.44429	0.566;0.566;0.835	B;B;P	0.44673	0.196;0.206;0.457	T	0.02676	-1.1125	10	0.66056	D	0.02	.	11.2516	0.49028	1.0:0.0:0.0:0.0	.	828;771;791	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	T	771;791;771;771;771	ENSP00000370485:I771T;ENSP00000370483:I791T;ENSP00000275857:I771T;ENSP00000370482:I771T;ENSP00000439203:I771T	ENSP00000275857:I771T	I	-	2	0	NLGN4X	5820997	1.000000	0.71417	0.637000	0.29366	0.043000	0.13939	7.992000	0.88273	1.222000	0.43521	0.417000	0.27973	ATC		0.552	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742		G	5810997	A	G	5810997	3	3	739	1	0	0	0	0	1	0	0	0	10466	333	12	3	142	3	NLGN4X	23	5810997	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10		5810997	149459563	224	43135											
TLR7	51284	mdanderson.org	37	X	12905178	12905178	+	Silent	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:12905178T>C	ENST00000380659.3	+	3	1690	c.1551T>C	c.(1549-1551)tcT>tcC	p.S517S		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	517					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)	AGCATCTTTCTTTCCTCAAAT	0.378																																																0													123	131	128					X																	12905178		2203	4300	6503	SO:0001819	synonymous_variant	51284			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.1551T>C	X.37:g.12905178T>C			D1CS69|Q9NR98	Silent	SNP	ENST00000380659.3	37	CCDS14151.1																																																																																				0.378	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562		C	12905178	T	C	12905178	2	2	739	1	0	0	0	0	0	0	0	1	15961	1596	56	3		3	TLR7	23	12905178	Silent	SNP	T	TCGA-KN-8433-01A-11D-2310-10	7094181	12905178	142365382	225	43136											
FAM9C	171484	mdanderson.org	37	X	13061295	13061295	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:13061295T>C	ENST00000333995.3	-	3	264	c.134A>G	c.(133-135)gAt>gGt	p.D45G	FAM9C_ENST00000542843.1_Missense_Mutation_p.D45G|FAM9C_ENST00000380625.3_Missense_Mutation_p.D45G			Q8IZT9	FAM9C_HUMAN	family with sequence similarity 9, member C	45						nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						CCCATGCTCATCAGTTACATC	0.398																																																0													208	159	176					X																	13061295		2203	4300	6503	SO:0001583	missense	171484				CCDS35203.1	Xp22.32	2013-03-14			ENSG00000187268	ENSG00000187268			18405	protein-coding gene	gene with protein product	"testis expressed 39C"	300479					Standard	NM_174901		Approved	TEX39C	uc004cvh.2	Q8IZT9	OTTHUMG00000021143	ENST00000333995.3:c.134A>G	X.37:g.13061295T>C	ENSP00000334430:p.Asp45Gly		B2R9G7|Q5HYJ6	Missense_Mutation	SNP	ENST00000333995.3	37	CCDS35203.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.05|10.05	1.243495|1.243495	0.22796|0.22796	.|.	.|.	ENSG00000187268|ENSG00000187268	ENST00000542843;ENST00000380625;ENST00000333995|ENST00000438997	T;T;T|.	0.23754|.	1.89;1.89;1.89|.	0.118|0.118	0.118|0.118	0.14667|0.14667	.|.	.|.	.|.	.|.	.|.	T|T	0.22627|0.22627	0.0546|0.0546	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	D|.	0.57571|.	0.98|.	P|.	0.57009|.	0.811|.	T|T	0.27226|0.27226	-1.0080|-1.0080	8|4	0.72032|.	D|.	0.01|.	.|.	.|.	.|.	.|.	.|.	45|.	Q8IZT9|.	FAM9C_HUMAN|.	G|V	45|5	ENSP00000439185:D45G;ENSP00000369999:D45G;ENSP00000334430:D45G|.	ENSP00000334430:D45G|.	D|M	-|-	2|1	0|0	FAM9C|FAM9C	12971216|12971216	0.139000|0.139000	0.22563|0.22563	0.026000|0.026000	0.17262|0.17262	0.033000|0.033000	0.12548|0.12548	0.935000|0.935000	0.28924|0.28924	0.153000|0.153000	0.19213|0.19213	0.151000|0.151000	0.16131|0.16131	GAT|ATG		0.398	FAM9C-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316476.1	NM_174901		C	13061295	T	C	13061295	3	2	739	1	0	0	0	0	1	0	0	0	5663	1435	50	3	386	3	FAM9C	23	13061295	Missense_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10	156117	13061295	142209265	226	43137											
MBTPS2	51360	broad.mit.edu	37	X	21896681	21896681	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:21896681delA	ENST00000379484.5	+	9	1231	c.1132delA	c.(1132-1134)aaafs	p.K379fs		NM_015884.3	NP_056968.1	O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	379	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)	p.S380fs*28(1)		breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						TAAAGACTGTAAAAAAAGCTC	0.328																																																1	Insertion - Frameshift(1)	lung(1)											106	106	106					X																	21896681		2203	4300	6503	SO:0001589	frameshift_variant	51360			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.1132delA	X.37:g.21896681delA	ENSP00000368798:p.Lys379fs		Q9UM70|Q9UMD3	Frame_Shift_Del	DEL	ENST00000379484.5	37	CCDS14201.1																																																																																				0.328	MBTPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056026.1			-	21896681	A	-	21896681	7	5	739	1	0	1	0	1	0	0	0	0	9364	363	13	0	1166	0	MBTPS2	23	21896681	Frame_Shift_Del	DEL	A	TCGA-KN-8433-01A-11D-2310-10	8835386	21896681	133373879	227	43138											
CXorf22	170063	mdanderson.org	37	X	35974129	35974129	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:35974129T>C	ENST00000297866.5	+	8	1292	c.1226T>C	c.(1225-1227)gTt>gCt	p.V409A		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	409										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						GGACTTCCTGTTTTACTACAG	0.368																																																0													95	90	91					X																	35974129		2202	4300	6502	SO:0001583	missense	170063			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.1226T>C	X.37:g.35974129T>C	ENSP00000297866:p.Val409Ala		Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	T	14.21	2.466133	0.43839	.	.	ENSG00000165164	ENST00000297866	T	0.63417	-0.04	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.74831	0.3768	M	0.75264	2.295	0.35691	D	0.814869	D	0.76494	0.999	D	0.67382	0.951	T	0.77590	-0.2531	10	0.16420	T	0.52	-44.5563	13.5093	0.61502	0.0:0.0:0.0:1.0	.	409	Q6ZTR5	CX022_HUMAN	A	409	ENSP00000297866:V409A	ENSP00000297866:V409A	V	+	2	0	CXorf22	35884050	1.000000	0.71417	0.845000	0.33349	0.008000	0.06430	5.632000	0.67819	1.854000	0.53819	0.486000	0.48141	GTT		0.368	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		C	35974129	T	C	35974129	3	2	739	1	0	0	0	0	1	0	0	0	4104	1725	60	3	1256	3	CXorf22	23	35974129	Missense_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10	14077448	35974129	119296431	228	43139											
SYTL5	94122	broad.mit.edu	37	X	37932872	37932873	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:37932872_37932873insC	ENST00000357972.5	+	5	1021_1022	c.475_476insC	c.(475-477)accfs	p.T159fs	SYTL5_ENST00000456733.2_Frame_Shift_Ins_p.T159fs|SYTL5_ENST00000297875.2_Frame_Shift_Ins_p.T159fs|TM4SF2_ENST00000465127.1_Intron			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	159					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						CCAAGAGCAAACCCGCCAGGAT	0.446																																																0																																										SO:0001589	frameshift_variant	94122				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.478dupC	X.37:g.37932875_37932875dupC	ENSP00000350657:p.Thr159fs		A2RRF2	Frame_Shift_Ins	INS	ENST00000357972.5	37	CCDS14244.1																																																																																				0.446	SYTL5-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080883.1	NM_138780		C	37932873	-	C	37932872	7	5	739	1	0	1	1	0	0	0	0	0	15491	43	2	0	489	0	SYTL5	23	37932872	Frame_Shift_Ins	INS	-	TCGA-KN-8433-01A-11D-2310-10	1958743	37932872	117337688	229	43140											
SLC9A7	84679	mdanderson.org	37	X	46529082	46529082	+	Silent	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:46529082A>G	ENST00000328306.4	-	5	778	c.753T>C	c.(751-753)gaT>gaC	p.D251D		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	251					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						AAAAGAGACAATCTGTGTAGT	0.338																																					Pancreas(118;454 1696 1930 13865 39976)											0													97	84	89					X																	46529082		2203	4300	6503	SO:0001819	synonymous_variant	84679			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.753T>C	X.37:g.46529082A>G			O75827|Q5JXP9	Silent	SNP	ENST00000328306.4	37	CCDS14269.1																																																																																				0.338	SLC9A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056370.1	NM_032591		G	46529082	A	G	46529082	2	3	739	1	0	0	0	0	0	0	0	1	14725	98	4	3		3	SLC9A7	23	46529082	Silent	SNP	A	TCGA-KN-8433-01A-11D-2310-10	8596210	46529082	108741478	230	43141											
ZNF81	347344	mdanderson.org	37	X	47774692	47774692	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:47774692A>G	ENST00000376954.1	+	6	1015	c.647A>G	c.(646-648)aAc>aGc	p.N216S	ZNF81_ENST00000338637.7_Missense_Mutation_p.N216S			P51508	ZNF81_HUMAN	zinc finger protein 81	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				GCAGCAAAGAACCTGGATAAA	0.348																																																0													63	61	61					X																	47774692		1844	4081	5925	SO:0001583	missense	347344			AK126949	CCDS43933.1	Xp11.23	2013-01-08	2006-05-12		ENSG00000197779	ENSG00000197779		"Zinc fingers, C2H2-type", "-"	13156	protein-coding gene	gene with protein product		314998	"zinc finger protein 81 (HFZ20)", "mental retardation, X-linked 45"	MRX45		8507979, 15121780	Standard	NM_007137		Approved	HFZ20	uc022bvq.1	P51508	OTTHUMG00000021462	ENST00000376954.1:c.647A>G	X.37:g.47774692A>G	ENSP00000366153:p.Asn216Ser		Q6RX22|Q96QH6	Missense_Mutation	SNP	ENST00000376954.1	37	CCDS43933.1	.	.	.	.	.	.	.	.	.	.	A	9.121	1.008947	0.19199	.	.	ENSG00000197779	ENST00000376954;ENST00000338637	T;T	0.05382	3.45;3.45	3.95	-0.0534	0.13818	.	0.149824	0.31370	N	0.007772	T	0.03871	0.0109	L	0.31752	0.955	0.22017	N	0.999417	B	0.15141	0.012	B	0.11329	0.006	T	0.36237	-0.9756	10	0.72032	D	0.01	.	1.2929	0.02064	0.3318:0.371:0.1138:0.1835	.	216	P51508	ZNF81_HUMAN	S	216	ENSP00000366153:N216S;ENSP00000341151:N216S	ENSP00000341151:N216S	N	+	2	0	ZNF81	47659636	0.000000	0.05858	0.005000	0.12908	0.380000	0.30137	0.093000	0.15086	-0.098000	0.12285	0.441000	0.28932	AAC		0.348	ZNF81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056455.2	NM_007137		G	47774692	A	G	47774692	3	3	739	1	0	0	0	0	1	0	0	0	18179	43	2	3	661	3	ZNF81	23	47774692	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	1245610	47774692	107495868	231	43142											
ZNF81	347344	mdanderson.org	37	X	47774819	47774819	+	Silent	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:47774819A>G	ENST00000376954.1	+	6	1142	c.774A>G	c.(772-774)aaA>aaG	p.K258K	ZNF81_ENST00000338637.7_Silent_p.K258K			P51508	ZNF81_HUMAN	zinc finger protein 81	258					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				TCAGCCTCAAACACTCACTCA	0.398																																																0													58	54	55					X																	47774819		1934	4113	6047	SO:0001819	synonymous_variant	347344			AK126949	CCDS43933.1	Xp11.23	2013-01-08	2006-05-12		ENSG00000197779	ENSG00000197779		"Zinc fingers, C2H2-type", "-"	13156	protein-coding gene	gene with protein product		314998	"zinc finger protein 81 (HFZ20)", "mental retardation, X-linked 45"	MRX45		8507979, 15121780	Standard	NM_007137		Approved	HFZ20	uc022bvq.1	P51508	OTTHUMG00000021462	ENST00000376954.1:c.774A>G	X.37:g.47774819A>G			Q6RX22|Q96QH6	Silent	SNP	ENST00000376954.1	37	CCDS43933.1																																																																																				0.398	ZNF81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056455.2	NM_007137		G	47774819	A	G	47774819	2	3	739	1	0	0	0	0	0	0	0	1	18179	40	2	3		3	ZNF81	23	47774819	Silent	SNP	A	TCGA-KN-8433-01A-11D-2310-10	127	47774819	107495741	232	43143											
GPR173	54328	mdanderson.org	37	X	53106925	53106925	+	Nonstop_Mutation	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:53106925A>G	ENST00000332582.4	+	2	1613	c.1122A>G	c.(1120-1122)tgA>tgG	p.*374W		NM_018969.5	NP_061842.1	Q9NS66	GP173_HUMAN	G protein-coupled receptor 173	0					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						GTGTCATGTGAAGCAGGCTGG	0.612																																																0													19	19	19					X																	53106925		2195	4282	6477	SO:0001578	stop_lost	54328			AB040801	CCDS14349.1	Xp11	2012-08-21	2006-02-15		ENSG00000184194	ENSG00000184194		"GPCR / Class A : Orphans"	18186	protein-coding gene	gene with protein product		300253	"G-protein coupled receptor 173", "G protein coupled receptor 173"			10833454	Standard	NM_018969		Approved	SREB3	uc004dru.3	Q9NS66	OTTHUMG00000021596	ENST00000332582.4:c.1122A>G	X.37:g.53106925A>G	ENSP00000331600:p.*374Trpext*16		B1B0A5	Missense_Mutation	SNP	ENST00000332582.4	37	CCDS14349.1	.	.	.	.	.	.	.	.	.	.	A	13.75	2.329990	0.41297	.	.	ENSG00000184194	ENST00000332582	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3254	0.55007	1.0:0.0:0.0:0.0	.	.	.	.	W	374	.	.	X	+	3	0	GPR173	53123650	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.519000	0.81809	1.815000	0.52974	0.425000	0.28330	TGA		0.612	GPR173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056717.2	NM_018969		G	53106925	A	G	53106925	4	3	739	1	0	0	0	0	0	0	0	0	6673	259	9	3	1124	3	GPR173	23	53106925	Nonstop_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	5332106	53106925	102163635	233	43144											
HSD17B10	3028	mdanderson.org	37	X	53458523	53458523	+	Silent	SNP	C	C	T			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:53458523C>T	ENST00000168216.6	-	6	642	c.615G>A	c.(613-615)ctG>ctA	p.L205L	HSD17B10_ENST00000375304.5_Silent_p.L196L|HSD17B10_ENST00000375298.4_Missense_Mutation_p.C169Y|RP3-339A18.6_ENST00000418049.1_RNA|HSD17B10_ENST00000495986.1_5'Flank	NM_001037811.2|NM_004493.2	NP_001032900.1|NP_004484.1	Q99714	HCD2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 10	205					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity (GO:0047015)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|cholate 7-alpha-dehydrogenase activity (GO:0008709)|poly(A) RNA binding (GO:0044822)|testosterone dehydrogenase [NAD(P)] activity (GO:0030283)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|skin(1)	8						GGCTGGTCAGCAGTGGGGTGC	0.512																																																0													55	39	44					X																	53458523		2203	4297	6500	SO:0001819	synonymous_variant	3028			U96132	CCDS14354.1, CCDS35300.1	Xp11.2	2014-09-17	2006-11-22	2006-11-22	ENSG00000072506	ENSG00000072506	1.1.1.35	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	4800	protein-coding gene	gene with protein product	"type 10 17b-HSD", "type 10 17beta-hydroxysteroid dehydrogenase", "AB-binding alcohol dehydrogenase", "short chain dehydrogenase/reductase family 5C, member 1", "mitochondrial RNase P subunit 2"	300256	"hydroxyacyl-Coenzyme A dehydrogenase, type II, hydroxyacyl-Coenzyme A dehydrogenase, type II", "mental retardation, X-linked, syndromic 10"	HADH2, MRXS10		9338779, 16899120, 19027726, 18984158, 17236142	Standard	NM_004493		Approved	ERAB, MHBD, 17b-HSD10, ABAD, SDR5C1, MRPP2, CAMR	uc004dsl.1	Q99714	OTTHUMG00000021612	ENST00000168216.6:c.615G>A	X.37:g.53458523C>T			Q5H927|Q6IBS9|Q8TCV9|Q96HD5	Silent	SNP	ENST00000168216.6	37	CCDS14354.1	.	.	.	.	.	.	.	.	.	.	C	11.61	1.689585	0.29962	.	.	ENSG00000072506	ENST00000375298	T	0.80033	-1.33	5.88	5.0	0.66597	.	.	.	.	.	D	0.84401	0.5464	.	.	.	0.25606	N	0.986548	.	.	.	.	.	.	T	0.78748	-0.2083	6	0.87932	D	0	.	15.438	0.75162	0.0:0.8253:0.1747:0.0	.	.	.	.	Y	169	ENSP00000364447:C169Y	ENSP00000364447:C169Y	C	-	2	0	HSD17B10	53475248	0.993000	0.37304	0.998000	0.56505	0.850000	0.48378	0.317000	0.19487	2.489000	0.83994	0.600000	0.82982	TGC		0.512	HSD17B10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056750.1	NM_004493		T	53458523	C	T	53458523	2	4	739	1	0	0	0	0	0	0	0	1	7381	697	25	2		2	HSD17B10	23	53458523	Silent	SNP	C	TCGA-KN-8433-01A-11D-2310-10	351598	53458523	101812037	234	43145											
TRO	7216	mdanderson.org	37	X	54955088	54955088	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:54955088A>G	ENST00000173898.7	+	12	2043	c.1931A>G	c.(1930-1932)gAg>gGg	p.E644G	TRO_ENST00000375041.2_Missense_Mutation_p.E247G|TRO_ENST00000319167.8_Missense_Mutation_p.E644G|SNORA11_ENST00000408823.1_RNA|TRO_ENST00000420798.2_Missense_Mutation_p.E175G|TRO_ENST00000399736.1_Missense_Mutation_p.E247G|TRO_ENST00000375022.4_Missense_Mutation_p.E644G	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	644					embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						GAGGCAGTGGAGATGGAAGTC	0.542																																																0													45	51	49					X																	54955088		2132	4239	6371	SO:0001583	missense	7216			U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.1931A>G	X.37:g.54955088A>G	ENSP00000173898:p.Glu644Gly		B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Missense_Mutation	SNP	ENST00000173898.7	37	CCDS43959.1	.	.	.	.	.	.	.	.	.	.	A	13.22	2.172525	0.38315	.	.	ENSG00000067445	ENST00000173898;ENST00000319167;ENST00000375022;ENST00000399736;ENST00000319179;ENST00000420798;ENST00000375041	T;T;T;T;T;T	0.08546	3.8;3.57;3.57;3.43;3.08;3.44	2.99	2.99	0.34606	.	.	.	.	.	T	0.16896	0.0406	L	0.46157	1.445	0.36622	D	0.875822	B;D;D;B	0.71674	0.259;0.998;0.998;0.259	B;D;D;B	0.75484	0.047;0.968;0.986;0.143	T	0.10222	-1.0639	9	0.72032	D	0.01	.	4.2402	0.10645	0.8402:0.0:0.1597:0.0	.	247;247;644;644	B1AKE9;B1AKF1;Q96SX2;Q12816	.;.;.;TROP_HUMAN	G	644;644;644;247;247;175;247	ENSP00000173898:E644G;ENSP00000318278:E644G;ENSP00000364162:E644G;ENSP00000382641:E247G;ENSP00000405126:E175G;ENSP00000364181:E247G	ENSP00000173898:E644G	E	+	2	0	TRO	54971813	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	4.303000	0.59098	1.422000	0.47177	0.441000	0.28932	GAG		0.542	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	NM_016157		G	54955088	A	G	54955088	3	3	739	1	0	0	0	0	1	0	0	0	16579	304	11	3	1973	3	TRO	23	54955088	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	1496565	54955088	100315472	235	43146											
ZXDB	158586	mdanderson.org	37	X	57620759	57620759	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:57620759A>G	ENST00000374888.1	+	1	2491	c.2278A>G	c.(2278-2280)Aac>Gac	p.N760D		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	760			N -> S (in dbSNP:rs1057340).		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						AGCGGAGTGGAACGTACATCC	0.483																																																0													172	131	145					X																	57620759		2203	4300	6503	SO:0001583	missense	158586			L14788	CCDS35313.1	Xp11.1	2013-01-08			ENSG00000198455	ENSG00000198455		"Zinc fingers, C2H2-type"	13199	protein-coding gene	gene with protein product		300236				8268913	Standard	NM_007157		Approved	ZNF905	uc004dvd.3	P98169	OTTHUMG00000021685	ENST00000374888.1:c.2278A>G	X.37:g.57620759A>G	ENSP00000364023:p.Asn760Asp		A8K151|Q9UBB3	Missense_Mutation	SNP	ENST00000374888.1	37	CCDS35313.1	.	.	.	.	.	.	.	.	.	.	.	0.009	-1.853565	0.00558	.	.	ENSG00000198455	ENST00000374888	T	0.09350	2.99	3.91	1.57	0.23409	.	0.492036	0.23457	N	0.047972	T	0.04227	0.0117	N	0.16166	0.38	0.09310	N	0.999999	B	0.02656	0.0	B	0.06405	0.002	T	0.44726	-0.9309	10	0.02654	T	1	.	6.0158	0.19603	0.7572:0.0:0.2428:0.0	.	760	P98169	ZXDB_HUMAN	D	760	ENSP00000364023:N760D	ENSP00000364023:N760D	N	+	1	0	ZXDB	57637484	0.543000	0.26434	0.166000	0.22797	0.698000	0.40448	1.055000	0.30467	0.527000	0.28560	0.430000	0.28490	AAC		0.483	ZXDB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056922.1	NM_007157		G	57620759	A	G	57620759	3	3	739	1	0	0	0	0	1	0	0	0	18256	246	9	3	2280	3	ZXDB	23	57620759	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	2665671	57620759	97649801	236	43147											
GDPD2	54857	mdanderson.org	37	X	69645623	69645623	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:69645623C>T	ENST00000374382.3	+	4	471	c.220C>T	c.(220-222)Cgc>Tgc	p.R74C	GDPD2_ENST00000538649.1_5'UTR|GDPD2_ENST00000453994.2_Missense_Mutation_p.R74C|GDPD2_ENST00000536730.1_5'UTR	NM_017711.3	NP_060181.2	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	74					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)					ATTCCTCTTCCGCCGCTGGGG	0.607																																																0													120	104	109					X																	69645623		2203	4300	6503	SO:0001583	missense	54857			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.220C>T	X.37:g.69645623C>T	ENSP00000363503:p.Arg74Cys		B4DRH4|B4DVC9|Q9NXJ6	Missense_Mutation	SNP	ENST00000374382.3	37	CCDS14402.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.469382	0.43839	.	.	ENSG00000130055	ENST00000453994;ENST00000374382	T;T	0.29917	1.55;1.55	5.19	4.32	0.51571	.	1.069260	0.07122	N	0.844137	T	0.29716	0.0742	L	0.44542	1.39	0.18873	N	0.999981	D;P	0.60575	0.988;0.946	B;B	0.41299	0.353;0.333	T	0.17289	-1.0374	9	.	.	.	-0.4479	11.4917	0.50385	0.3236:0.6764:0.0:0.0	.	74;74	B4DVC9;Q9HCC8	.;GDPD2_HUMAN	C	74	ENSP00000414019:R74C;ENSP00000363503:R74C	.	R	+	1	0	GDPD2	69562348	0.135000	0.22499	0.242000	0.24170	0.624000	0.37722	0.680000	0.25306	1.149000	0.42402	0.594000	0.82650	CGC		0.607	GDPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057070.1	NM_017711		T	69645623	C	T	69645623	3	4	739	1	0	0	0	0	1	0	0	0	6326	652	23	1	230	1	GDPD2	23	69645623	Missense_Mutation	SNP	C	TCGA-KN-8433-01A-11D-2310-10	12024864	69645623	85624937	237	43148											
SLC7A3	84889	mdanderson.org	37	X	70147758	70147758	+	Silent	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:70147758A>G	ENST00000374299.3	-	6	1077	c.933T>C	c.(931-933)ccT>ccC	p.P311P	SLC7A3_ENST00000298085.4_Silent_p.P311P			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	311					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)|L-lysine transmembrane transporter activity (GO:0015189)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GCTGGTAGTAAGGCATCATCA	0.532																																																0													118	93	101					X																	70147758		2203	4300	6503	SO:0001819	synonymous_variant	84889			AF320612	CCDS14404.1	Xq12	2013-05-22			ENSG00000165349	ENSG00000165349		"Solute carriers"	11061	protein-coding gene	gene with protein product		300443				11591158	Standard	NM_001048164		Approved	CAT-3, ATRC3, FLJ14541	uc004dyn.3	Q8WY07	OTTHUMG00000021780	ENST00000374299.3:c.933T>C	X.37:g.70147758A>G			D3DVU7|Q5JQR2|Q8N185|Q8NCA7|Q96SZ7	Silent	SNP	ENST00000374299.3	37	CCDS14404.1																																																																																				0.532	SLC7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057080.1	NM_032803		G	70147758	A	G	70147758	2	3	739	1	0	0	0	0	0	0	0	1	14704	59	3	3		3	SLC7A3	23	70147758	Silent	SNP	A	TCGA-KN-8433-01A-11D-2310-10	502135	70147758	85122802	238	43149											
HDX	139324	mdanderson.org	37	X	83616516	83616516	+	Silent	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:83616516T>C	ENST00000297977.5	-	5	1521	c.1410A>G	c.(1408-1410)gaA>gaG	p.E470E	HDX_ENST00000506585.2_Silent_p.E412E|HDX_ENST00000373177.2_Silent_p.E470E	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	470						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						TTGCCACAGCTTCAATTTTCT	0.413																																					Pancreas(53;231 1169 36156 43751 51139)											0													73	60	65					X																	83616516		2203	4300	6503	SO:0001819	synonymous_variant	139324			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.1410A>G	X.37:g.83616516T>C			A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Silent	SNP	ENST00000297977.5	37	CCDS35342.1																																																																																				0.413	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057379.2	NM_144657		C	83616516	T	C	83616516	2	2	739	1	0	0	0	0	0	0	0	1	7028	1606	56	3		3	HDX	23	83616516	Silent	SNP	T	TCGA-KN-8433-01A-11D-2310-10	13468758	83616516	71654044	239	43150											
HNRNPH2	3188	mdanderson.org	37	X	100668187	100668187	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:100668187A>G	ENST00000316594.5	+	2	1289	c.1211A>G	c.(1210-1212)aAc>aGc	p.N404S		NM_001032393.2|NM_001199973.1|NM_001199974.1|NM_019597.4	NP_001027565.1|NP_001186902.1|NP_001186903.1|NP_062543.1	P55795	HNRH2_HUMAN	heterogeneous nuclear ribonucleoprotein H2 (H')	404	2 X 16 AA Gly-rich approximate repeats.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|large_intestine(2)|lung(6)|skin(1)	12						GGCTTATCCAACCAGTCTAGT	0.488																																																0													202	191	195					X																	100668187		2203	4300	6503	SO:0001583	missense	3188			U01923	CCDS14485.1	Xq22	2013-02-12		2008-04-18	ENSG00000126945	ENSG00000126945		"RNA binding motif (RRM) containing"	5042	protein-coding gene	gene with protein product		300610		HNRPH2		7499401	Standard	NM_019597		Approved	hnRNPH', FTP3, HNRPH'	uc004ehn.3	P55795	OTTHUMG00000022029	ENST00000316594.5:c.1211A>G	X.37:g.100668187A>G	ENSP00000361927:p.Asn404Ser		A1L400|Q9HHA7	Missense_Mutation	SNP	ENST00000316594.5	37	CCDS14485.1	.	.	.	.	.	.	.	.	.	.	A	3.428	-0.116753	0.06838	.	.	ENSG00000126945	ENST00000457902;ENST00000316594	T	0.09817	2.94	4.62	4.62	0.57501	.	0.549745	0.18226	N	0.147723	T	0.06096	0.0158	N	0.22421	0.69	0.38861	D	0.956481	P	0.41673	0.759	B	0.36378	0.223	T	0.41980	-0.9478	10	0.23891	T	0.37	-6.5213	6.0861	0.19968	0.8865:0.0:0.1135:0.0	.	404	P55795	HNRH2_HUMAN	S	359;404	ENSP00000361927:N404S	ENSP00000361927:N404S	N	+	2	0	HNRNPH2	100554843	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.845000	0.55880	1.825000	0.53177	0.417000	0.27973	AAC		0.488	HNRNPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057556.1	NM_019597		G	100668187	A	G	100668187	3	3	739	1	0	0	0	0	1	0	0	0	7269	43	2	3	1213	3	HNRNPH2	23	100668187	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	17051671	100668187	54602373	240	43151											
TCEAL2	140597	mdanderson.org	37	X	101382406	101382406	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:101382406T>C	ENST00000372780.1	+	3	823	c.604T>C	c.(604-606)Ttc>Ctc	p.F202L	TCEAL2_ENST00000329035.2_Missense_Mutation_p.F202L	NM_080390.3	NP_525129.1	Q9H3H9	TCAL2_HUMAN	transcription elongation factor A (SII)-like 2	202					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						ACAGGACCCCTTCTATCCTAG	0.483																																																0													85	90	88					X																	101382406		2200	4288	6488	SO:0001583	missense	140597			AF325115	CCDS14496.1	Xq22.1-q22.3	2014-03-21			ENSG00000184905	ENSG00000184905			29818	protein-coding gene	gene with protein product						16221301	Standard	NM_080390		Approved	my048, MY0876G05, WEX1	uc004eip.3	Q9H3H9	OTTHUMG00000022048	ENST00000372780.1:c.604T>C	X.37:g.101382406T>C	ENSP00000361866:p.Phe202Leu		B2R5C7	Missense_Mutation	SNP	ENST00000372780.1	37	CCDS14496.1	.	.	.	.	.	.	.	.	.	.	T	19.80	3.894753	0.72639	.	.	ENSG00000184905	ENST00000372780;ENST00000329035	T;T	0.08458	3.09;3.09	3.32	3.32	0.38043	.	0.148040	0.31772	N	0.007093	T	0.08802	0.0218	L	0.52011	1.625	0.09310	N	1	B	0.28291	0.206	B	0.32724	0.151	T	0.19712	-1.0297	10	0.33141	T	0.24	.	7.3385	0.26623	0.0:0.0:0.0:1.0	.	202	Q9H3H9	TCAL2_HUMAN	L	202	ENSP00000361866:F202L;ENSP00000332359:F202L	ENSP00000332359:F202L	F	+	1	0	TCEAL2	101269062	0.009000	0.17119	0.004000	0.12327	0.920000	0.55202	2.184000	0.42575	1.544000	0.49359	0.481000	0.45027	TTC		0.483	TCEAL2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057605.1	NM_080390		C	101382406	T	C	101382406	3	2	739	1	0	0	0	0	1	0	0	0	15676	1609	56	3	606	3	TCEAL2	23	101382406	Missense_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10	714219	101382406	53888154	241	43152											
KLHL13	90293	mdanderson.org	37	X	117053557	117053557	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:117053557T>C	ENST00000262820.3	-	4	1406	c.497A>G	c.(496-498)gAc>gGc	p.D166G	KLHL13_ENST00000541812.1_Missense_Mutation_p.D150G|KLHL13_ENST00000545703.1_Missense_Mutation_p.D124G|KLHL13_ENST00000371878.1_Missense_Mutation_p.D115G|KLHL13_ENST00000540167.1_Missense_Mutation_p.D150G|KLHL13_ENST00000469946.1_Missense_Mutation_p.D115G|KLHL13_ENST00000371876.1_Missense_Mutation_p.D115G|KLHL13_ENST00000539496.1_Missense_Mutation_p.D169G|KLHL13_ENST00000371882.1_Missense_Mutation_p.D115G	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	166					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						TTCCAGCGTGTCTTGAAGGTT	0.368																																																0													75	80	78					X																	117053557		2203	4300	6503	SO:0001583	missense	90293			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.497A>G	X.37:g.117053557T>C	ENSP00000262820:p.Asp166Gly		B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Missense_Mutation	SNP	ENST00000262820.3	37	CCDS14571.1	.	.	.	.	.	.	.	.	.	.	T	15.78	2.934356	0.52866	.	.	ENSG00000003096	ENST00000371882;ENST00000371876;ENST00000371878;ENST00000447671;ENST00000541812;ENST00000540167;ENST00000539496;ENST00000262820;ENST00000545703;ENST00000469946	T;T;T;T;T;T;T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52	5.07	5.07	0.68467	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.76709	0.4025	L	0.58583	1.82	0.80722	D	1	P;D;P;P	0.58620	0.86;0.983;0.875;0.885	B;P;P;P	0.57101	0.43;0.813;0.614;0.665	T	0.75136	-0.3424	10	0.30854	T	0.27	.	13.9563	0.64150	0.0:0.0:0.0:1.0	.	150;169;160;166	Q9P2N7-3;Q9P2N7-5;Q9P2N7-4;Q9P2N7	.;.;.;KLH13_HUMAN	G	115;115;115;115;150;150;169;166;124;115	ENSP00000360949:D115G;ENSP00000360943:D115G;ENSP00000360945:D115G;ENSP00000412640:D115G;ENSP00000444450:D150G;ENSP00000441029:D150G;ENSP00000443191:D169G;ENSP00000262820:D166G;ENSP00000440707:D124G;ENSP00000419803:D115G	ENSP00000262820:D166G	D	-	2	0	KLHL13	116937585	1.000000	0.71417	1.000000	0.80357	0.047000	0.14425	7.868000	0.87116	1.870000	0.54199	0.412000	0.27726	GAC		0.368	KLHL13-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_033495		C	117053557	T	C	117053557	3	2	739	1	0	0	0	0	1	0	0	0	8371	1667	58	3	1486	3	KLHL13	23	117053557	Missense_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10	15671151	117053557	38217003	242	43153											
GLUD2	2747	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	X	120182071	120182071	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:120182071C>T	ENST00000328078.1	+	1	610	c.533C>T	c.(532-534)cCg>cTg	p.P178L		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	178					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						GTTGATGTGCCGTTTGGGGGT	0.453																																																0													118	91	100					X																	120182071		2203	4300	6503	SO:0001583	missense	2747			U08997	CCDS14603.1	Xq24-q25	2008-02-05	2003-02-24	2003-02-28	ENSG00000182890	ENSG00000182890			4336	protein-coding gene	gene with protein product		300144	"glutamate dehydrogenase pseudogene 1"	GLUDP1		8207021, 9109504	Standard	NM_012084		Approved		uc004eto.3	P49448	OTTHUMG00000022320	ENST00000328078.1:c.533C>T	X.37:g.120182071C>T	ENSP00000327589:p.Pro178Leu		B2R8G0|Q9UDQ4	Missense_Mutation	SNP	ENST00000328078.1	37	CCDS14603.1	.	.	.	.	.	.	.	.	.	.	C	8.558	0.877132	0.17395	.	.	ENSG00000182890	ENST00000328078	D	0.97688	-4.49	1.62	0.69	0.18039	Glutamate/phenylalanine/leucine/valine dehydrogenase, dimerisation domain (1);	0.000000	0.85682	D	0.000000	D	0.98940	0.9640	H	0.98769	4.325	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.96735	0.9542	10	0.87932	D	0	.	4.7803	0.13199	0.3626:0.6374:0.0:0.0	.	178	P49448	DHE4_HUMAN	L	178	ENSP00000327589:P178L	ENSP00000327589:P178L	P	+	2	0	GLUD2	120009752	0.986000	0.35501	0.370000	0.25965	0.080000	0.17528	1.818000	0.39012	0.175000	0.19841	0.472000	0.43445	CCG		0.453	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058133.1	NM_012084		T	120182071	C	T	120182071	3	4	739	1	0	0	0	0	1	0	0	0	6479	652	23	1	535	1	GLUD2	23	120182071	Missense_Mutation	SNP	C	TCGA-KN-8433-01A-11D-2310-10	3128514	120182071	35088489	243	43154											
GPR112	139378	mdanderson.org	37	X	135494443	135494443	+	Silent	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:135494443T>C	ENST00000394143.1	+	24	9246	c.8955T>C	c.(8953-8955)ttT>ttC	p.F2985F	GPR112_ENST00000394141.1_Silent_p.F2780F|GPR112_ENST00000287534.4_Intron|GPR112_ENST00000370652.1_Silent_p.F2985F|GPR112_ENST00000412101.1_Silent_p.F2780F	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2985					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)					TTTTTGTGTTTCACTGTGTGA	0.473																																																0													226	165	186					X																	135494443		2203	4300	6503	SO:0001819	synonymous_variant	139378			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.8955T>C	X.37:g.135494443T>C			A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Silent	SNP	ENST00000394143.1	37	CCDS35409.1																																																																																				0.473	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			C	135494443	T	C	135494443	2	2	739	1	0	0	0	0	0	0	0	1	6631	1780	62	3		3	GPR112	23	135494443	Silent	SNP	T	TCGA-KN-8433-01A-11D-2310-10	15312372	135494443	19776117	244	43155											
MCF2	4168	mdanderson.org	37	X	138695406	138695406	+	Intron	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:138695406A>G	ENST00000370576.4	-	10	1573				MCF2_ENST00000370573.4_Intron|MCF2_ENST00000483690.1_5'UTR|MCF2_ENST00000414978.1_Intron|MCF2_ENST00000520602.1_Intron|MCF2_ENST00000338585.6_Silent_p.S460S|MCF2_ENST00000536274.1_Intron|MCF2_ENST00000519895.1_Silent_p.S520S|MCF2_ENST00000370578.4_Intron	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence						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)					CTTGAAAGAAAGAGTATCCAA	0.308																																																0																																										SO:0001627	intron_variant	4168				CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"Rho guanine nucleotide exchange factors"	6940	protein-coding gene	gene with protein product	"Oncogene MCF2 (oncogene DBL)"	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.1363+1633T>C	X.37:g.138695406A>G			B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Silent	SNP	ENST00000370576.4	37	CCDS14667.1																																																																																				0.308	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369		G	138695406	A	G	138695406	1	3	739	0	1	0	0	0	0	0	0	0	9380	59	3	3		3	MCF2	23	138695406	Intron	SNP	A	TCGA-KN-8433-01A-11D-2310-10	3200963	138695406	16575154	245	43156											
MAGEC1	9947	mdanderson.org	37	X	140993912	140993912	+	Missense_Mutation	SNP	C	C	T	rs12558365	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:140993912C>T	ENST00000285879.4	+	4	1008	c.722C>T	c.(721-723)tCc>tTc	p.S241F	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	241										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)					AGCCCCTCCTCCTCCTCCACT	0.483										HNSCC(15;0.026)																																						0													76	66	69					X																	140993912		2192	4219	6411	SO:0001583	missense	9947			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.722C>T	X.37:g.140993912C>T	ENSP00000285879:p.Ser241Phe		A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	CCDS35417.1	318	0.19168173598553345	100	0.21008403361344538	65	0.19345238095238096	62	0.11272727272727273	94	0.12668463611859837	t	0.551	-0.849407	0.02651	.	.	ENSG00000155495	ENST00000285879;ENST00000370511;ENST00000370510	T;T	0.13420	4.3;2.59	.	.	.	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.09310	P	0.99999999595708	B	0.06786	0.001	B	0.01281	0.0	T	0.45011	-0.9290	7	0.08179	T	0.78	.	2.6694	0.05063	0.0:0.5025:0.0:0.4974	.	241	O60732	MAGC1_HUMAN	F	241;43;42	ENSP00000285879:S241F;ENSP00000359542:S43F	ENSP00000285879:S241F	S	+	2	0	MAGEC1	140821578	0.000000	0.05858	0.116000	0.21606	0.116000	0.19942	-2.548000	0.00930	0.054000	0.16065	0.054000	0.15206	TCC		0.483	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		T	140993912	C	T	140993912	3	4	739	1	0	0	0	0	1	0	0	0	9182	855	30	2	728	2	MAGEC1	23	140993912	Missense_Mutation	SNP	C	TCGA-KN-8433-01A-11D-2310-10	2298506	140993912	14276648	246	43157											
MAGEC1	9947	mdanderson.org	37	X	140994381	140994381	+	Missense_Mutation	SNP	C	C	G	rs76145360		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:140994381C>G	ENST00000285879.4	+	4	1477	c.1191C>G	c.(1189-1191)caC>caG	p.H397Q	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	397								p.H397Q(1)		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)					AGAGAACTCACAGTACTTTTG	0.483										HNSCC(15;0.026)																																						1	Substitution - Missense(1)	pancreas(1)											109	121	117					X																	140994381		2203	4296	6499	SO:0001583	missense	9947			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.1191C>G	X.37:g.140994381C>G	ENSP00000285879:p.His397Gln		A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	g	0.003	-2.420945	0.00188	.	.	ENSG00000155495	ENST00000285879	T	0.02085	4.46	.	.	.	.	.	.	.	.	T	0.00875	0.0029	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.44143	-0.9347	8	0.09590	T	0.72	.	2.1541	0.03808	0.2516:0.2493:0.0:0.4992	.	397	O60732	MAGC1_HUMAN	Q	397	ENSP00000285879:H397Q	ENSP00000285879:H397Q	H	+	3	2	MAGEC1	140822047	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-4.426000	0.00236	-3.737000	0.00113	-3.811000	0.00019	CAC		0.483	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		G	140994381	C	G	140994381	3	3	739	1	0	0	0	0	1	0	0	0	9182	477	17	4	1197	4	MAGEC1	23	140994381	Missense_Mutation	SNP	C	TCGA-KN-8433-01A-11D-2310-10	469	140994381	14276179	247	43158											
SLITRK4	139065	mdanderson.org	37	X	142716870	142716870	+	Silent	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:142716870A>G	ENST00000381779.4	-	2	2280	c.2055T>C	c.(2053-2055)gcT>gcC	p.A685A	SLITRK4_ENST00000338017.4_Silent_p.A685A|SLITRK4_ENST00000356928.1_Silent_p.A685A	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	685						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)					GTGGAATGAAAGCTTCTGTGC	0.468																																																0													120	120	120					X																	142716870		2203	4300	6503	SO:0001819	synonymous_variant	139065			BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.2055T>C	X.37:g.142716870A>G			Q5JXG3|Q8TCM8|Q96DL3	Silent	SNP	ENST00000381779.4	37	CCDS14679.1																																																																																				0.468	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		G	142716870	A	G	142716870	2	3	739	1	0	0	0	0	0	0	0	1	14751	59	3	3		3	SLITRK4	23	142716870	Silent	SNP	A	TCGA-KN-8433-01A-11D-2310-10	1722489	142716870	12553690	248	43159											
PRRG3	79057	broad.mit.edu	37	X	150869347	150869348	+	Frame_Shift_Del	DEL	CT	CT	-	rs149812906	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:150869347_150869348delCT	ENST00000370353.3	+	4	928_929	c.538_539delCT	c.(538-540)ctcfs	p.L180fs	PRRG3_ENST00000538575.1_Frame_Shift_Del_p.L180fs			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	180						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCCCTGAGCTCTCTCTCTCC	0.663																																																0																																										SO:0001589	frameshift_variant	79057			AK074574	CCDS14699.1	Xq28	2008-02-05			ENSG00000130032	ENSG00000130032			30798	protein-coding gene	gene with protein product		300685				11171957	Standard	NM_024082		Approved	TMG3	uc022cgt.1	Q9BZD7	OTTHUMG00000024170	ENST00000370353.3:c.538_539delCT	X.37:g.150869355_150869356delCT	ENSP00000359378:p.Leu180fs		A1A523|A1A575|Q8N2N6	Frame_Shift_Del	DEL	ENST00000370353.3	37	CCDS14699.1																																																																																				0.663	PRRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060880.1	NM_024082		-	150869348	CT	-	150869347	7	5	739	1	0	1	0	1	0	0	0	0	12612	797	28	0	548	0	PRRG3	23	150869347	Frame_Shift_Del	DEL	CT	TCGA-KN-8433-01A-11D-2310-10	8152477	150869347	4401213	249	43160											
FLNA	2316	mdanderson.org	37	X	153578045	153578045	+	Silent	SNP	C	C	T			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:153578045C>T	ENST00000369850.3	-	46	7760	c.7524G>A	c.(7522-7524)ggG>ggA	p.G2508G	FLNA_ENST00000369856.3_Silent_p.G641G|FLNA_ENST00000344736.4_Silent_p.G2468G|FLNA_ENST00000422373.1_Silent_p.G2500G|FLNA_ENST00000498491.1_5'UTR|FLNA_ENST00000360319.4_Silent_p.G2500G	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	2508					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)					AGGGGCTGCCCCCAATGTGGT	0.627																																																0													26	30	29					X																	153578045		1989	4143	6132	SO:0001819	synonymous_variant	2316			X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"actin binding protein 280"	300017	"filamin A, alpha (actin binding protein 280)"	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.7524G>A	X.37:g.153578045C>T			E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	SNP	ENST00000369850.3	37	CCDS48194.1																																																																																				0.627	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			T	153578045	C	T	153578045	2	4	739	1	0	0	0	0	0	0	0	1	5935	610	22	2		2	FLNA	23	153578045	Silent	SNP	C	TCGA-KN-8433-01A-11D-2310-10	2708698	153578045	1692515	250	43161											
F8	2157	mdanderson.org	37	X	154132764	154132764	+	Silent	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:154132764A>G	ENST00000360256.4	-	17	5822	c.5622T>C	c.(5620-5622)ctT>ctC	p.L1874L		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1874	F5/8 type A 3.|Plastocyanin-like 5.				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)	GGCAGACCAGAAGGGGTCCAA	0.463																																																0													161	135	144					X																	154132764		2203	4300	6503	SO:0001819	synonymous_variant	2157			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.5622T>C	X.37:g.154132764A>G			Q14286|Q5HY69	Silent	SNP	ENST00000360256.4	37	CCDS35457.1																																																																																				0.463	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			G	154132764	A	G	154132764	2	3	739	1	0	0	0	0	0	0	0	1	5352	233	9	3		3	F8	23	154132764	Silent	SNP	A	TCGA-KN-8433-01A-11D-2310-10	554719	154132764	1137796	251	43162											
PEX10	5192	ucsc.edu	37	1	2341848	2341848	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr1:2341848A>G	ENST00000447513.2	-	2	223	c.155T>C	c.(154-156)cTc>cCc	p.L52P	PEX10_ENST00000288774.3_Missense_Mutation_p.L52P|PEX10_ENST00000515760.1_5'Flank|PEX10_ENST00000507596.1_Missense_Mutation_p.L52P	NM_002617.3	NP_002608.1	O60683	PEX10_HUMAN	peroxisomal biogenesis factor 10	52					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)		CACATCTGAGAGCAGCTCAAC	0.592																																					GBM(12;9 508 1649 13619)											0													115	96	103					1																	2341848		2203	4300	6503	SO:0001583	missense	5192			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.155T>C	1.37:g.2341848A>G	ENSP00000407922:p.Leu52Pro		B3KWD8|Q5T095|Q9BW90	Missense_Mutation	SNP	ENST00000447513.2	37	CCDS44045.1	.	.	.	.	.	.	.	.	.	.	A	18.80	3.700056	0.68501	.	.	ENSG00000157911	ENST00000288774;ENST00000447513;ENST00000507596	D;D;D	0.86366	-2.11;-2.11;-2.11	4.73	4.73	0.59995	Pex, N-terminal (1);	0.222000	0.39615	N	0.001309	D	0.93575	0.7949	M	0.88377	2.95	0.80722	D	1	D;P	0.71674	0.998;0.938	D;P	0.66716	0.946;0.876	D	0.94192	0.7442	10	0.54805	T	0.06	-0.1355	13.4134	0.60956	1.0:0.0:0.0:0.0	.	52;52	O60683;O60683-2	PEX10_HUMAN;.	P	52	ENSP00000288774:L52P;ENSP00000407922:L52P;ENSP00000424291:L52P	ENSP00000288774:L52P	L	-	2	0	PEX10	2331708	1.000000	0.71417	0.943000	0.38184	0.962000	0.63368	8.505000	0.90515	1.768000	0.52137	0.379000	0.24179	CTC		0.592	PEX10-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367454.1	NM_153818		G	2341848	A	G	2341848	3	3	740	1	0	0	0	0	1	0	0	0	11738	304	11	3	905	3	PEX10	1	2341848	Missense_Mutation	SNP	A	TCGA-KN-8434-01A-11D-2310-10		2341848	246908773	1	43163											
GSTM5	2949	mdanderson.org	37	1	110256127	110256127	+	Missense_Mutation	SNP	G	G	A	rs17854972	byFrequency	TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr1:110256127G>A	ENST00000256593.3	+	4	257	c.199G>A	c.(199-201)Gct>Act	p.A67T	GSTM5_ENST00000369812.5_Missense_Mutation_p.A86T|GSTM5_ENST00000369813.1_Missense_Mutation_p.A26T	NM_000851.3	NP_000842.2	P46439	GSTM5_HUMAN	glutathione S-transferase mu 5	67	GST N-terminal.		A -> T (in dbSNP:rs17854972). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		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)	glutathione transferase activity (GO:0004364)			NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	GATTGATGGGGCTCACAAGAT	0.592													G|||	201	0.0401358	0.0129	0.0548	5008	,	,		18809	0.0		0.0964	False		,,,				2504	0.0501															0								G	THR/ALA	113,4293	86.8+/-125.4	2,109,2092	298	231	254		199	-8.7	0	1	dbSNP_123	254	958,7642	209.0+/-250.3	54,850,3396	no	missense	GSTM5	NM_000851.3	58	56,959,5488	AA,AG,GG		11.1395,2.5647,8.2347	benign	67/219	110256127	1071,11935	2203	4300	6503	SO:0001583	missense	2949			L02321	CCDS811.1	1p13.3	2012-06-21	2008-11-26		ENSG00000134201	ENSG00000134201	2.5.1.18	"Glutathione S-transferases / Soluble"	4637	protein-coding gene	gene with protein product		138385	"glutathione S-transferase M5"			8473333	Standard	NM_000851		Approved		uc001dyn.3	P46439	OTTHUMG00000011644	ENST00000256593.3:c.199G>A	1.37:g.110256127G>A	ENSP00000256593:p.Ala67Thr		A8K0V8|Q6PD78	Missense_Mutation	SNP	ENST00000256593.3	37	CCDS811.1	108	0.04945054945054945	7	0.014227642276422764	24	0.06629834254143646	0	0.0	77	0.10158311345646438	G	2.990	-0.208371	0.06180	0.025647	0.111395	ENSG00000134201	ENST00000256593;ENST00000369813;ENST00000369812	T;T;T	0.41758	0.99;3.33;0.99	4.33	-8.66	0.00866	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.314056	0.27080	N	0.021026	T	0.03434	0.0099	N	0.03608	-0.345	0.09310	N	1	B;B	0.12630	0.006;0.0	B;B	0.12156	0.007;0.0	T	0.15492	-1.0435	10	0.37606	T	0.19	.	2.4536	0.04524	0.3627:0.2675:0.2738:0.096	rs17854972	26;67	Q5T8Q9;P46439	.;GSTM5_HUMAN	T	67;26;86	ENSP00000256593:A67T;ENSP00000358828:A26T;ENSP00000358827:A86T	ENSP00000256593:A67T	A	+	1	0	GSTM5	110057650	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.869000	0.04232	-2.436000	0.00553	-2.830000	0.00107	GCT		0.592	GSTM5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032200.1	NM_000851		A	110256127	G	A	110256127	3	1	740	1	0	0	0	0	1	0	0	0	6843	1203	42	2	213	2	GSTM5	1	110256127	Missense_Mutation	SNP	G	TCGA-KN-8434-01A-11D-2310-10	107914279	110256127	138994494	2	43164											
ADORA3	140	ucsc.edu;mdanderson.org;bcgsc.ca	37	1	112029261	112029261	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr1:112029261G>T	ENST00000369716.4	-	4	952	c.819C>A	c.(817-819)aaC>aaA	p.N273K	ADORA3_ENST00000369717.4_Missense_Mutation_p.N192K	NM_020683.6	NP_065734.5	P33765	AA3R_HUMAN	adenosine A3 receptor	0					activation of adenylate cyclase activity (GO:0007190)|histamine secretion by mast cell (GO:0002553)|inflammatory response (GO:0006954)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of mucus secretion (GO:0070257)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of heart contraction (GO:0008016)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	G-protein coupled adenosine receptor activity (GO:0001609)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)|Enprofylline(DB00824)	TTCTGGTTTTGTTGCCTGATA	0.557																																																0													99	91	94					1																	112029261		2203	4300	6503	SO:0001583	missense	140			BC029831	CCDS838.1, CCDS839.1, CCDS41369.1	1p13.2	2014-09-17			ENSG00000121933	ENSG00000121933		"GPCR / Class A : Adenosine receptors", "Immunoglobulin superfamily / V-set domain containing"	268	protein-coding gene	gene with protein product		600445				7607699	Standard	NM_020683		Approved	AD026	uc001ebf.3	P33765	OTTHUMG00000011957	ENST00000369716.4:c.819C>A	1.37:g.112029261G>T	ENSP00000358730:p.Asn273Lys		A2A3P4|Q6UWU0|Q9BYZ1	Missense_Mutation	SNP	ENST00000369716.4	37	CCDS838.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.98|10.98	1.505141|1.505141	0.26949|0.26949	.|.	.|.	ENSG00000121933|ENSG00000121933	ENST00000369717;ENST00000369716;ENST00000355437;ENST00000443498|ENST00000414219;ENST00000442484	T;T|.	0.54071|.	2.41;0.59|.	4.61|4.61	-1.37|-1.37	0.09056|0.09056	.|.	0.361223|.	0.23975|.	N|.	0.042737|.	T|T	0.11024|0.11024	0.0269|0.0269	L|L	0.42245|0.42245	1.32|1.32	0.09310|0.09310	N|N	1|1	B;B|.	0.24368|.	0.102;0.017|.	B;B|.	0.21151|.	0.033;0.009|.	T|T	0.33497|0.33497	-0.9866|-0.9866	10|5	0.72032|.	D|.	0.01|.	-9.9979|-9.9979	1.6911|1.6911	0.02852|0.02852	0.1896:0.3201:0.3425:0.1478|0.1896:0.3201:0.3425:0.1478	.|.	192;273|.	Q5QNY7;P33765-2|.	.;.|.	K|K	192;273;104;98|133;86	ENSP00000358731:N192K;ENSP00000358730:N273K|.	ENSP00000347612:N104K|.	N|T	-|-	3|2	2|0	ADORA3|ADORA3	111830784|111830784	0.003000|0.003000	0.15002|0.15002	0.004000|0.004000	0.12327|0.12327	0.381000|0.381000	0.30169|0.30169	0.086000|0.086000	0.14935|0.14935	-0.084000|-0.084000	0.12595|0.12595	0.561000|0.561000	0.74099|0.74099	AAC|ACA		0.557	ADORA3-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000157679.1	NM_000677, NM_020683		T	112029261	G	T	112029261	3	4	740	1	0	0	0	0	1	0	0	0	329	1368	48	4	236	4	ADORA3	1	112029261	Missense_Mutation	SNP	G	TCGA-KN-8434-01A-11D-2310-10	1773134	112029261	137221360	3	43165											
ZNF238	10472	ucsc.edu;bcgsc.ca	37	1	244218131	244218131	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr1:244218131A>G	ENST00000358704.4	+	2	1204	c.1055A>G	c.(1054-1056)gAg>gGg	p.E352G		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	343	Interaction with DNMT3A.				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)										CCAGAGAGCGAGCGTGTCCAG	0.632																																																0													73	65	68					1																	244218131		2203	4300	6503	SO:0001583	missense	10472			U38896	CCDS1622.1	1q44	2013-09-19	2013-01-09	2013-01-09	ENSG00000179456	ENSG00000179456		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	13030	protein-coding gene	gene with protein product		608433	"zinc finger protein 238"	ZNF238		9568537, 9013868	Standard	NM_205768		Approved	C2H2-171, TAZ-1, RP58	uc031psv.1	Q99592	OTTHUMG00000040013	ENST00000358704.4:c.1055A>G	1.37:g.244218131A>G	ENSP00000351539:p.Glu352Gly		A8K5U3|Q13397|Q5VU40|Q8N463|Q9UD99	Missense_Mutation	SNP	ENST00000358704.4	37	CCDS1622.1	.	.	.	.	.	.	.	.	.	.	A	13.17	2.158698	0.38119	.	.	ENSG00000179456	ENST00000366538;ENST00000358704	T	0.14391	2.51	5.73	5.73	0.89815	.	0.053977	0.64402	D	0.000001	T	0.10380	0.0254	N	0.24115	0.695	0.80722	D	1	B;P	0.34934	0.345;0.476	B;B	0.36186	0.109;0.219	T	0.12091	-1.0561	10	0.07990	T	0.79	.	16.0181	0.80457	1.0:0.0:0.0:0.0	.	343;352	Q99592;Q99592-2	ZN238_HUMAN;.	G	352	ENSP00000351539:E352G	ENSP00000351539:E352G	E	+	2	0	ZNF238	242284754	1.000000	0.71417	0.997000	0.53966	0.956000	0.61745	7.508000	0.81686	2.195000	0.70347	0.528000	0.53228	GAG		0.632	ZBTB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096513.2	NM_205768		G	244218131	A	G	244218131	3	3	740	1	0	0	0	0	1	0	0	0	17795	304	11	3	1061	3	ZNF238	1	244218131	Missense_Mutation	SNP	A	TCGA-KN-8434-01A-11D-2310-10	132188870	244218131	5032490	4	43166											
BIRC6	57448	mdanderson.org	37	2	32641045	32641045	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr2:32641045G>A	ENST00000421745.2	+	10	2820	c.2686G>A	c.(2686-2688)Gac>Aac	p.D896N		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	896					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)					AAAAACGTCTGACATTTCTAC	0.403																																					Pancreas(94;175 1509 16028 18060 45422)											0													70	72	71					2																	32641045		2203	4300	6503	SO:0001583	missense	57448			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"Baculoviral IAP repeat containing", "Ubiquitin-conjugating enzymes E2"	13516	protein-coding gene	gene with protein product	"apollon"	605638	"baculoviral IAP repeat-containing 6"			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.2686G>A	2.37:g.32641045G>A	ENSP00000393596:p.Asp896Asn		Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	14.32	2.498920	0.44455	.	.	ENSG00000115760	ENST00000421745	T	0.63417	-0.04	5.76	4.83	0.62350	.	0.115184	0.56097	D	0.000021	T	0.51601	0.1684	L	0.29908	0.895	0.42755	D	0.99378	B	0.23058	0.079	B	0.18263	0.021	T	0.51076	-0.8751	10	0.49607	T	0.09	.	16.2927	0.82758	0.0:0.1322:0.8678:0.0	.	896	Q9NR09	BIRC6_HUMAN	N	896	ENSP00000393596:D896N	ENSP00000393596:D896N	D	+	1	0	BIRC6	32494549	1.000000	0.71417	0.996000	0.52242	0.866000	0.49608	4.791000	0.62460	2.726000	0.93360	0.655000	0.94253	GAC		0.403	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		A	32641045	G	A	32641045	3	1	740	1	0	0	0	0	1	0	0	0	1438	1290	45	2	2724	2	BIRC6	2	32641045	Missense_Mutation	SNP	G	TCGA-KN-8434-01A-11D-2310-10		32641045	210558328	5	43167											
TBC1D5	9779	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	3	17413592	17413592	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr3:17413592C>T	ENST00000253692.7	-	13	2634	c.970G>A	c.(970-972)Gaa>Aaa	p.E324K	TBC1D5_ENST00000446818.2_Missense_Mutation_p.E324K|TBC1D5_ENST00000414318.2_Intron|TBC1D5_ENST00000429924.2_Missense_Mutation_p.E276K|TBC1D5_ENST00000429383.4_Missense_Mutation_p.E324K	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	324	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					retromer complex (GO:0030904)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						GGTGCAATTTCTAGTCTGTTC	0.373																																																0													134	130	132					3																	17413592		2203	4300	6503	SO:0001583	missense	9779			D86965	CCDS33714.1, CCDS46770.1	3p24.3	2013-07-09			ENSG00000131374	ENSG00000131374			19166	protein-coding gene	gene with protein product		615740				19531583	Standard	NM_014744		Approved	KIAA0210	uc003cbe.3	Q92609	OTTHUMG00000155488	ENST00000253692.7:c.970G>A	3.37:g.17413592C>T	ENSP00000253692:p.Glu324Lys		A6NP25|C9JP52	Missense_Mutation	SNP	ENST00000253692.7	37	CCDS33714.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.811923	0.90707	.	.	ENSG00000131374	ENST00000253692;ENST00000429383;ENST00000446818;ENST00000429924	T;T;T;T	0.22539	1.95;1.95;1.95;1.95	5.79	5.79	0.91817	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.35480	0.0933	N	0.26092	0.79	0.80722	D	1	B;D;D	0.56521	0.096;0.974;0.976	B;P;D	0.67900	0.262;0.906;0.954	T	0.02625	-1.1132	10	0.44086	T	0.13	-15.2812	20.0332	0.97547	0.0:1.0:0.0:0.0	.	276;324;324	C9J3F6;C9JP52;Q92609	.;.;TBCD5_HUMAN	K	324;324;324;276	ENSP00000253692:E324K;ENSP00000398127:E324K;ENSP00000402935:E324K;ENSP00000411925:E276K	ENSP00000253692:E324K	E	-	1	0	TBC1D5	17388596	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.786000	0.85741	2.749000	0.94314	0.491000	0.48974	GAA		0.373	TBC1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340301.3	NM_014744		T	17413592	C	T	17413592	3	4	740	1	0	0	0	0	1	0	0	0	15628	922	32	2	1527	2	TBC1D5	3	17413592	Missense_Mutation	SNP	C	TCGA-KN-8434-01A-11D-2310-10		17413592	180608838	6	43168											
SLC26A6	65010	broad.mit.edu;ucsc.edu;mdanderson.org	37	3	48669762	48669762	+	Silent	SNP	G	G	A	rs146756914	byFrequency	TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr3:48669762G>A	ENST00000395550.2	-	5	548	c.501C>T	c.(499-501)aaC>aaT	p.N167N	SLC26A6_ENST00000383733.3_Silent_p.N167N|SLC26A6_ENST00000482282.1_5'UTR|SLC26A6_ENST00000455886.2_Intron|SLC26A6_ENST00000337000.8_Intron|SLC26A6_ENST00000420764.2_Silent_p.N167N|SLC26A6_ENST00000358747.6_Silent_p.N146N			Q9BXS9	S26A6_HUMAN	solute carrier family 26 (anion exchanger), member 6	167					angiotensin-activated signaling pathway (GO:0038166)|anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular response to cAMP (GO:0071320)|cellular response to fructose stimulus (GO:0071332)|cellular response to interferon-gamma (GO:0071346)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|epithelial fluid transport (GO:0042045)|formate transport (GO:0015724)|intestinal absorption (GO:0050892)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|mannitol transport (GO:0015797)|oxalate transport (GO:0019532)|oxalic acid secretion (GO:0046724)|positive regulation of dipeptide transmembrane transport (GO:2001150)|protein kinase C signaling (GO:0070528)|regulation of intracellular pH (GO:0051453)|sperm capacitation (GO:0048240)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transepithelial chloride transport (GO:0030321)|transepithelial transport (GO:0070633)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|chloride channel complex (GO:0034707)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)|vesicle membrane (GO:0012506)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|chloride transmembrane transporter activity (GO:0015108)|efflux transmembrane transporter activity (GO:0015562)|formate efflux transmembrane transporter activity (GO:0015660)|formate transmembrane transporter activity (GO:0015499)|formate uptake transmembrane transporter activity (GO:0015659)|oxalate transmembrane transporter activity (GO:0019531)|PDZ domain binding (GO:0030165)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)		SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		TCATGGAGTCGTTCAAGGCCT	0.592													G|||	6	0.00119808	0.0045	0.0	5008	,	,		20479	0.0		0.0	False		,,,				2504	0.0				NSCLC(13;369 479 28271 30152 44026)											0								G	,,,	1,4289		0,1,2144	56	62	60		438,501,501,501	-0.4	0	3	dbSNP_134	60	0,8476		0,0,4238	yes	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SLC26A6	NM_001040454.1,NM_022911.2,NM_134263.2,NM_134426.2	,,,	0,1,6382	AA,AG,GG		0.0,0.0233,0.0078	,,,	146/739,167/760,167/759,167/741	48669762	1,12765	2145	4238	6383	SO:0001819	synonymous_variant	65010			AF279265	CCDS43087.1, CCDS46824.1, CCDS46825.1, CCDS46826.1, CCDS63627.1, CCDS63628.1	3p21.31	2013-08-05	2013-07-18		ENSG00000225697	ENSG00000225697		"Solute carriers"	14472	protein-coding gene	gene with protein product	"pendrin-like protein 1", "pendrin L1", "sulfate anion transporter", "anion transporter 1"	610068	"solute carrier family 26, member 6"			11087667, 11247665	Standard	NM_022911		Approved	DKFZp586E1422		Q9BXS9	OTTHUMG00000186381	ENST00000395550.2:c.501C>T	3.37:g.48669762G>A			B4DMZ1|Q548A7|Q96Q90|Q9NQU1	Silent	SNP	ENST00000395550.2	37	CCDS43087.1																																																																																				0.592	SLC26A6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345040.1	NM_022911		A	48669762	G	A	48669762	2	1	740	1	0	0	0	0	0	0	0	1	14527	1136	40	1		1	SLC26A6	3	48669762	Silent	SNP	G	TCGA-KN-8434-01A-11D-2310-10	31256170	48669762	149352668	7	43169											
SPCS1	28972	mdanderson.org	37	3	52740182	52740182	+	5'UTR	SNP	C	C	G	rs6617	byFrequency	TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr3:52740182C>G	ENST00000602728.1	+	0	89				GLT8D1_ENST00000266014.5_5'Flank|GLT8D1_ENST00000407584.3_5'Flank|SPCS1_ENST00000233025.7_Missense_Mutation_p.P41A|GLT8D1_ENST00000491606.1_5'Flank|SPCS1_ENST00000423431.1_Intron|GLT8D1_ENST00000394783.3_5'Flank|GLT8D1_ENST00000478968.2_5'Flank			Q9Y6A9	SPCS1_HUMAN	signal peptidase complex subunit 1 homolog (S. cerevisiae)						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|proteolysis (GO:0006508)|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 endoplasmic reticulum membrane (GO:0030176)|signal peptidase complex (GO:0005787)	peptidase activity (GO:0008233)			kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6				BRCA - Breast invasive adenocarcinoma(193;6.51e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)|OV - Ovarian serous cystadenocarcinoma(275;0.0469)		CCAGACCTTACCCCTCACGGT	0.697													G|||	2230	0.445288	0.5575	0.5144	5008	,	,		13167	0.4286		0.4304	False		,,,				2504	0.2771															0													10	15	14					3																	52740182		687	1590	2277	SO:0001623	5_prime_UTR_variant	28972			AF092138	CCDS33769.2	3p21.31	2005-01-05			ENSG00000114902	ENSG00000114902			23401	protein-coding gene	gene with protein product		610358				8632014	Standard	NM_014041		Approved	SPC12, HSPC033, YJR010C-A, SPC1	uc011bei.2	Q9Y6A9	OTTHUMG00000154930	ENST00000602728.1:c.-81C>G	3.37:g.52740182C>G			B3KNF8|Q9BVW1	Missense_Mutation	SNP	ENST00000602728.1	37		1074	0.49175824175824173	273	0.5548780487804879	192	0.5303867403314917	280	0.48951048951048953	329	0.4340369393139842	G	1.062	-0.672572	0.03403	.	.	ENSG00000114902	ENST00000233025	.	.	.	3.96	-4.39	0.03611	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.41716	-0.9493	7	0.02654	T	1	.	3.0659	0.06214	0.2759:0.4525:0.1602:0.1114	rs6617;rs1139798;rs3184127;rs17548630;rs6617	41	Q9Y6A9	SPCS1_HUMAN	A	41	.	ENSP00000233025:P41A	P	+	1	0	SPCS1	52715222	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.407000	0.02488	-1.177000	0.02744	-0.127000	0.14921	CCC		0.697	SPCS1-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467759.1	NM_014041		G	52740182	C	G	52740182	1	3	740	0	1	0	0	0	0	0	0	0	15028	507	18	4		4	SPCS1	3	52740182	5'UTR	SNP	C	TCGA-KN-8434-01A-11D-2310-10	4070420	52740182	145282248	8	43170											
MASP1	5648	broad.mit.edu	37	3	186978580	186978581	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr3:186978580_186978581insG	ENST00000337774.5	-	4	884_885	c.495_496insC	c.(493-498)tactgcfs	p.C166fs	MASP1_ENST00000392472.2_Frame_Shift_Ins_p.C53fs|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000296280.6_Frame_Shift_Ins_p.C166fs|MASP1_ENST00000392470.2_Frame_Shift_Ins_p.C140fs|MASP1_ENST00000169293.6_Frame_Shift_Ins_p.C166fs	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	166	EGF-like; calcium-binding.|Homodimerization. {ECO:0000250}.|Interaction with FCN2.|Interaction with MBL2.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CGGCAGGAGCAGTAGTAGCCGC	0.554																																																0																																										SO:0001589	frameshift_variant	5648			D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"Serine peptidases / Serine peptidases"	6901	protein-coding gene	gene with protein product		600521	"mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.496dupC	3.37:g.186978581_186978581dupG	ENSP00000336792:p.Cys166fs		A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Frame_Shift_Ins	INS	ENST00000337774.5	37	CCDS33907.1																																																																																				0.554	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	NM_001879		G	186978581	-	G	186978580	7	5	740	1	0	1	1	0	0	0	0	0	9324	188	7	0	2600	0	MASP1	3	186978580	Frame_Shift_Ins	INS	-	TCGA-KN-8434-01A-11D-2310-10	134238398	186978580	11043850	9	43171											
SENP5	205564	broad.mit.edu;hgsc.bcm.edu	37	3	196613140	196613142	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	CTC	CTC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr3:196613140_196613142delCTC	ENST00000323460.5	+	2	1337_1339	c.1088_1090delCTC	c.(1087-1092)tctcct>tct	p.P364del	SENP5_ENST00000445299.2_In_Frame_Del_p.P364del|SENP5_ENST00000419026.1_Intron	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	364					cell cycle (GO:0007049)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		TCCTGTTCTTCTCCTAAGTGGGA	0.453																																					Ovarian(47;891 1095 11174 13858 51271)											0																																										SO:0001651	inframe_deletion	205564			BC030705	CCDS3322.1	3q29	2005-08-17	2005-08-17		ENSG00000119231	ENSG00000119231			28407	protein-coding gene	gene with protein product		612845	"SUMO1/sentrin specific protease 5"			12477932	Standard	NM_152699		Approved	MGC27076	uc003fwz.4	Q96HI0	OTTHUMG00000155527	ENST00000323460.5:c.1088_1090delCTC	3.37:g.196613140_196613142delCTC	ENSP00000327197:p.Pro364del		B4DY82|Q96SA5	In_Frame_Del	DEL	ENST00000323460.5	37	CCDS3322.1																																																																																				0.453	SENP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340524.1	NM_152699		-	196613142	CTC	-	196613140	7	5	740	1	0	1	0	1	0	0	0	0	14055	913	32	0	1090	0	SENP5	3	196613140	In_Frame_Del	DEL	CTC	TCGA-KN-8434-01A-11D-2310-10	9634560	196613140	1409290	10	43172	414	2									
SENP5	205564	bcgsc.ca	37	3	196613141	196613143	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	CTC	CTC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr3:196613141_196613143delCTC	ENST00000323460.5	+	2	1338_1340	c.1089_1091delCTC	c.(1087-1092)tcctct>tct	p.363_364SS>S	SENP5_ENST00000445299.2_In_Frame_Del_p.363_364SS>S|SENP5_ENST00000419026.1_Intron	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	363					cell cycle (GO:0007049)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		CCTGTTCTTCTCCTAAGTGGGAG	0.453																																					Ovarian(47;891 1095 11174 13858 51271)											0																																										SO:0001651	inframe_deletion	205564			BC030705	CCDS3322.1	3q29	2005-08-17	2005-08-17		ENSG00000119231	ENSG00000119231			28407	protein-coding gene	gene with protein product		612845	"SUMO1/sentrin specific protease 5"			12477932	Standard	NM_152699		Approved	MGC27076	uc003fwz.4	Q96HI0	OTTHUMG00000155527	ENST00000323460.5:c.1089_1091delCTC	3.37:g.196613141_196613143delCTC	ENSP00000327197:p.Ser363del		B4DY82|Q96SA5	In_Frame_Del	DEL	ENST00000323460.5	37	CCDS3322.1																																																																																				0.453	SENP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340524.1	NM_152699		-	196613143	CTC	-	196613141	7	5	740	1	0	1	0	1	0	0	0	0	14055	1538	54	0	1091	0	SENP5	3	196613141	In_Frame_Del	DEL	CTC	TCGA-KN-8434-01A-11D-2310-10	1	196613141	1409289	11	43173	414	2									
NAP1L5	266812	mdanderson.org	37	4	89618837	89618837	+	Silent	SNP	T	T	C	rs710834	byFrequency	TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr4:89618837T>C	ENST00000323061.5	-	1	549	c.69A>G	c.(67-69)gcA>gcG	p.A23A	HERC3_ENST00000543130.1_Intron|HERC3_ENST00000264345.3_Intron|HERC3_ENST00000402738.1_Intron	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN	nucleosome assembly protein 1-like 5	23	Poly-Ala.				nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(123;0.000181)		ttacctcctctgccgctgcct	0.682													C|||	2787	0.55651	0.7292	0.3588	5008	,	,		11493	0.5516		0.3678	False		,,,				2504	0.6626															0								C	,	2661,1617		892,877,370	13	17	16		,69	-1.3	0	4	dbSNP_86	16	2912,5504		568,1776,1864	no	intron,coding-synonymous	HERC3,NAP1L5	NM_014606.1,NM_153757.2	,	1460,2653,2234	CC,CT,TT		34.6008,37.798,43.9026	,	,23/183	89618837	5573,7121	2139	4208	6347	SO:0001819	synonymous_variant	266812			NM_153757	CCDS3632.1	4q21-q22	2006-04-12			ENSG00000177432	ENSG00000177432			19968	protein-coding gene	gene with protein product		612203				12383514	Standard	NM_153757		Approved	DRLM	uc003hrx.3	Q96NT1	OTTHUMG00000130950	ENST00000323061.5:c.69A>G	4.37:g.89618837T>C				Silent	SNP	ENST00000323061.5	37	CCDS3632.1																																																																																				0.682	NAP1L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253551.1	NM_153757		C	89618837	T	C	89618837	2	2	740	1	0	0	0	0	0	0	0	1	10162	1567	55	3		3	NAP1L5	4	89618837	Silent	SNP	T	TCGA-KN-8434-01A-11D-2310-10		89618837	101535439	12	43174											
DDX60	55601	broad.mit.edu	37	4	169196590	169196590	+	Missense_Mutation	SNP	C	C	T	rs574811561		TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr4:169196590C>T	ENST00000393743.3	-	16	2501	c.2210G>A	c.(2209-2211)cGg>cAg	p.R737Q		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	737					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)	p.R737Q(2)		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)		CAGTTGGAACCGAGCTGGCCC	0.393													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15607	0.0		0.0	False		,,,				2504	0.0															2	Substitution - Missense(2)	endometrium(2)											101	98	99					4																	169196590		2203	4300	6503	SO:0001583	missense	55601			AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.2210G>A	4.37:g.169196590C>T	ENSP00000377344:p.Arg737Gln		Q6PK35|Q9NVE3	Missense_Mutation	SNP	ENST00000393743.3	37	CCDS34097.1	.	.	.	.	.	.	.	.	.	.	C	18.88	3.717358	0.68844	.	.	ENSG00000137628	ENST00000393743	T	0.18174	2.23	5.37	3.65	0.41850	.	0.102711	0.43110	N	0.000614	T	0.28665	0.0710	L	0.32530	0.975	0.29601	N	0.847719	D	0.89917	1.0	D	0.87578	0.998	T	0.06303	-1.0834	10	0.40728	T	0.16	.	12.3977	0.55395	0.0:0.8661:0.0:0.1339	.	737	Q8IY21	DDX60_HUMAN	Q	737	ENSP00000377344:R737Q	ENSP00000377344:R737Q	R	-	2	0	DDX60	169433165	0.980000	0.34600	0.431000	0.26735	0.718000	0.41266	2.491000	0.45303	0.748000	0.32831	0.563000	0.77884	CGG		0.393	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631		T	169196590	C	T	169196590	3	4	740	1	0	0	0	0	1	0	0	0	4380	652	23	1	3020	1	DDX60	4	169196590	Missense_Mutation	SNP	C	TCGA-KN-8434-01A-11D-2310-10	79577753	169196590	21957686	13	43175											
ODZ3	55714	broad.mit.edu;mdanderson.org;bcgsc.ca	37	4	183594221	183594221	+	Missense_Mutation	SNP	G	G	A	rs544403548		TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr4:183594221G>A	ENST00000511685.1	+	7	1298	c.1175G>A	c.(1174-1176)cGa>cAa	p.R392Q	TENM3_ENST00000406950.2_Missense_Mutation_p.R392Q			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	392					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)										GATATTGGCCGAAGAGCAATT	0.388													G|||	1	0.000199681	0.0	0.0	5008	,	,		15262	0.001		0.0	False		,,,				2504	0.0															0													42	40	40					4																	183594221		1809	4078	5887	SO:0001583	missense	55714			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.1175G>A	4.37:g.183594221G>A	ENSP00000424226:p.Arg392Gln		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.819612	0.50633	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	T;T	0.19806	2.12;2.12	5.04	5.04	0.67666	.	.	.	.	.	T	0.11067	0.0270	N	0.20574	0.59	0.47214	D	0.999354	P	0.43352	0.804	B	0.25614	0.062	T	0.21793	-1.0235	9	0.12103	T	0.63	.	19.0138	0.92886	0.0:0.0:1.0:0.0	.	392	Q9P273	TEN3_HUMAN	Q	392	ENSP00000424226:R392Q;ENSP00000385276:R392Q	ENSP00000385276:R392Q	R	+	2	0	ODZ3	183831215	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.250000	0.78287	2.789000	0.95967	0.650000	0.86243	CGA		0.388	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			A	183594221	G	A	183594221	3	1	740	1	0	0	0	0	1	0	0	0	10838	1058	37	1	1197	1	ODZ3	4	183594221	Missense_Mutation	SNP	G	TCGA-KN-8434-01A-11D-2310-10	14397631	183594221	7560055	14	43176											
SPINK5	11005	broad.mit.edu	37	5	147499644	147499644	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr5:147499644C>T	ENST00000256084.7	+	25	2428	c.2386C>T	c.(2386-2388)Cgg>Tgg	p.R796W	SPINK5_ENST00000359874.3_Missense_Mutation_p.R796W|SPINK5_ENST00000398454.1_Missense_Mutation_p.R796W	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	796	Kazal-like 12. {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)			TGACCCTGTCCGGGGTCCAGA	0.388																																																0													88	78	81					5																	147499644		1850	4100	5950	SO:0001583	missense	11005			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.2386C>T	5.37:g.147499644C>T	ENSP00000256084:p.Arg796Trp		A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Missense_Mutation	SNP	ENST00000256084.7	37	CCDS43382.1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.889670	0.72524	.	.	ENSG00000133710	ENST00000398454;ENST00000359874;ENST00000508733;ENST00000256084	T;T;T;T	0.04706	3.57;3.57;3.57;3.57	5.56	4.67	0.58626	Proteinase inhibitor I1, Kazal (1);Protease inhibitor, Kazal-type (1);	0.155191	0.30473	N	0.009556	T	0.20455	0.0492	M	0.77616	2.38	0.30017	N	0.814676	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;1.0	T	0.03483	-1.1032	10	0.62326	D	0.03	-6.0089	12.0016	0.53235	0.1729:0.8271:0.0:0.0	.	777;796;796;796	B4DWS3;Q9NQ38-3;Q9NQ38;Q9NQ38-2	.;.;ISK5_HUMAN;.	W	796;796;777;796	ENSP00000381472:R796W;ENSP00000352936:R796W;ENSP00000421519:R777W;ENSP00000256084:R796W	ENSP00000256084:R796W	R	+	1	2	SPINK5	147479837	0.002000	0.14202	0.943000	0.38184	0.986000	0.74619	0.698000	0.25571	1.455000	0.47813	0.557000	0.71058	CGG		0.388	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2	NM_001127698		T	147499644	C	T	147499644	3	4	740	1	0	0	0	0	1	0	0	0	15067	643	23	1	2484	1	SPINK5	5	147499644	Missense_Mutation	SNP	C	TCGA-KN-8434-01A-11D-2310-10		147499644	33415616	15	43177											
GABRA1	2554	ucsc.edu	37	5	161324123	161324123	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr5:161324123A>G	ENST00000428797.2	+	11	1421	c.1066A>G	c.(1066-1068)Aaa>Gaa	p.K356E	GABRA1_ENST00000393943.4_Missense_Mutation_p.K356E|GABRA1_ENST00000444819.1_Missense_Mutation_p.K356E|GABRA1_ENST00000420560.1_Missense_Mutation_p.K356E|GABRA1_ENST00000437025.2_Missense_Mutation_p.K356E|GABRA1_ENST00000023897.6_Missense_Mutation_p.K356E	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	356					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)	ACAGCCAAAGAAAGTAAAGGA	0.433																																																0													79	91	87					5																	161324123		2203	4300	6503	SO:0001583	missense	2554				CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4075	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 1"	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.1066A>G	5.37:g.161324123A>G	ENSP00000393097:p.Lys356Glu		D3DQK6|Q8N629	Missense_Mutation	SNP	ENST00000428797.2	37	CCDS4357.1	.	.	.	.	.	.	.	.	.	.	A	17.15	3.316873	0.60524	.	.	ENSG00000022355	ENST00000023897;ENST00000428797;ENST00000393943;ENST00000437025;ENST00000420560;ENST00000444819	D;D;D;D;D;D	0.81908	-1.55;-1.55;-1.55;-1.55;-1.55;-1.55	5.32	5.32	0.75619	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.000000	0.85682	D	0.000000	T	0.81922	0.4925	L	0.42744	1.35	0.80722	D	1	P	0.40000	0.698	P	0.46510	0.519	T	0.78981	-0.1989	10	0.22706	T	0.39	.	15.5691	0.76320	1.0:0.0:0.0:0.0	.	356	P14867	GBRA1_HUMAN	E	356	ENSP00000023897:K356E;ENSP00000393097:K356E;ENSP00000377517:K356E;ENSP00000415441:K356E;ENSP00000408041:K356E;ENSP00000414232:K356E	ENSP00000023897:K356E	K	+	1	0	GABRA1	161256701	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.850000	0.92190	2.134000	0.65973	0.460000	0.39030	AAA		0.433	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2	NM_000806.5		G	161324123	A	G	161324123	3	3	740	1	0	0	0	0	1	0	0	0	6162	247	9	3	1100	3	GABRA1	5	161324123	Missense_Mutation	SNP	A	TCGA-KN-8434-01A-11D-2310-10	13824479	161324123	19591137	16	43178											
FOXI1	2299	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	5	169533097	169533097	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr5:169533097C>T	ENST00000306268.6	+	1	197	c.136C>T	c.(136-138)Cgg>Tgg	p.R46W	FOXI1_ENST00000449804.2_Missense_Mutation_p.R46W			Q12951	FOXI1_HUMAN	forkhead box I1	46	Pro-rich.				embryo development (GO:0009790)|inner ear morphogenesis (GO:0042472)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.R46W(1)		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)			CAGCCCTCAGCGGCCCTCCTT	0.687									Pendred syndrome																																							1	Substitution - Missense(1)	lung(1)											20	22	21					5																	169533097		2201	4298	6499	SO:0001583	missense	2299	Familial Cancer Database	Goiter-Deafness syndrome	BC029778	CCDS4372.1, CCDS47337.1	5q34	2008-02-05			ENSG00000168269	ENSG00000168269		"Forkhead boxes"	3815	protein-coding gene	gene with protein product		601093		FKHL10		7957066, 8825632	Standard	NM_144769		Approved	FREAC6	uc003mai.4	Q12951	OTTHUMG00000130436	ENST00000306268.6:c.136C>T	5.37:g.169533097C>T	ENSP00000304286:p.Arg46Trp		Q14518|Q66SR7|Q8N6L8	Missense_Mutation	SNP	ENST00000306268.6	37	CCDS4372.1	.	.	.	.	.	.	.	.	.	.	C	17.84	3.488446	0.64074	.	.	ENSG00000168269	ENST00000306268;ENST00000449804	D;D	0.94897	-3.47;-3.55	4.5	3.63	0.41609	.	0.068553	0.64402	D	0.000010	D	0.96892	0.8985	M	0.83384	2.64	0.49299	D	0.999779	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.992	D	0.96308	0.9226	10	0.49607	T	0.09	.	12.5348	0.56137	0.3021:0.6979:0.0:0.0	.	46;46	Q12951-2;Q12951	.;FOXI1_HUMAN	W	46	ENSP00000304286:R46W;ENSP00000415483:R46W	ENSP00000304286:R46W	R	+	1	2	FOXI1	169465675	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	1.119000	0.31258	0.882000	0.36016	-0.448000	0.05591	CGG		0.687	FOXI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252827.2	NM_144769, NM_012188		T	169533097	C	T	169533097	3	4	740	1	0	0	0	0	1	0	0	0	6011	759	27	1	138	1	FOXI1	5	169533097	Missense_Mutation	SNP	C	TCGA-KN-8434-01A-11D-2310-10	8208974	169533097	11382163	17	43179											
DST	667	hgsc.bcm.edu	37	6	56335065	56335065	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr6:56335065C>T	ENST00000361203.3	-	91	21384	c.21377G>A	c.(21376-21378)cGc>cAc	p.R7126H	DST_ENST00000370769.4_Missense_Mutation_p.R7237H|DST_ENST00000370788.2_Missense_Mutation_p.R5040H|DST_ENST00000244364.6_Missense_Mutation_p.R4823H|DST_ENST00000446842.2_Missense_Mutation_p.R6911H|DST_ENST00000312431.6_3'UTR|DST_ENST00000370754.5_Missense_Mutation_p.R7415H|DST_ENST00000421834.2_Missense_Mutation_p.R5122H			Q03001	DYST_HUMAN	dystonin	7235					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)			CATCTCCAAGCGACTGGTTGG	0.388																																																0													53	48	49					6																	56335065		1867	4109	5976	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.21377G>A	6.37:g.56335065C>T	ENSP00000354508:p.Arg7126His		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	19.34	3.809386	0.70797	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66	5.26	5.26	0.73747	EF-hand-like domain (1);	0.000000	0.46758	D	0.000265	T	0.79370	0.4434	L	0.53249	1.67	0.33897	D	0.638007	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.998;1.0;0.999;0.984;0.983	T	0.80603	-0.1309	9	0.72032	D	0.01	.	19.2223	0.93803	0.0:1.0:0.0:0.0	.	5122;7237;7415;7235;4823	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	H	4823;7415;7237;5122;6911;5040;7126	ENSP00000244364:R4823H;ENSP00000359790:R7415H;ENSP00000359805:R7237H;ENSP00000400883:R5122H;ENSP00000393645:R6911H;ENSP00000359824:R5040H;ENSP00000354508:R7126H	ENSP00000244364:R4823H	R	-	2	0	DST	56443024	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	7.750000	0.85110	2.620000	0.88729	0.655000	0.94253	CGC		0.388	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		T	56335065	C	T	56335065	3	4	740	1	0	0	0	0	1	0	0	0	4785	768	27	1	1079	1	DST	6	56335065	Missense_Mutation	SNP	C	TCGA-KN-8434-01A-11D-2310-10		56335065	114780002	18	43180											
HINT3	135114	ucsc.edu	37	6	126288134	126288134	+	Silent	SNP	A	A	G			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr6:126288134A>G	ENST00000229633.5	+	2	500	c.303A>G	c.(301-303)aaA>aaG	p.K101K		NM_138571.4	NP_612638.3	Q9NQE9	HINT3_HUMAN	histidine triad nucleotide binding protein 3	101	HIT. {ECO:0000255|PROSITE- ProRule:PRU00464}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	hydrolase activity (GO:0016787)|nucleotide binding (GO:0000166)			endometrium(1)|large_intestine(1)|lung(1)|stomach(1)	4				UCEC - Uterine corpus endometrioid carcinoma (4;0.153)|GBM - Glioblastoma multiforme(226;0.0321)		CTCTAAGGAAAGATCAAGTAG	0.363																																																0													129	120	123					6																	126288134		2203	4300	6503	SO:0001819	synonymous_variant	135114			AK057688	CCDS5133.1	6q22.33	2007-12-04			ENSG00000111911	ENSG00000111911			18468	protein-coding gene	gene with protein product		609998				11805111	Standard	NM_138571		Approved	FLJ33126	uc003qal.4	Q9NQE9	OTTHUMG00000015514	ENST00000229633.5:c.303A>G	6.37:g.126288134A>G			B3KQ91|Q8N0Y9	Silent	SNP	ENST00000229633.5	37	CCDS5133.1																																																																																				0.363	HINT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042090.1	NM_138571		G	126288134	A	G	126288134	2	3	740	1	0	0	0	0	0	0	0	1	7115	69	3	3		3	HINT3	6	126288134	Silent	SNP	A	TCGA-KN-8434-01A-11D-2310-10	69953069	126288134	44826933	19	43181											
RAET1G	353091	mdanderson.org	37	6	150240697	150240697	+	Missense_Mutation	SNP	A	A	G	rs571396556	byFrequency	TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr6:150240697A>G	ENST00000367360.2	-	2	408	c.341T>C	c.(340-342)aTa>aCa	p.I114T	RP11-244K5.8_ENST00000606915.1_RNA|RAET1E-AS1_ENST00000605899.1_RNA|RAET1E-AS1_ENST00000446954.2_RNA|RAET1G_ENST00000479265.1_Missense_Mutation_p.I114T	NM_001001788.2	NP_001001788.2			retinoic acid early transcript 1G											NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|urinary_tract(1)	13		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.73e-12)		ACCCTTGGGTATGTAATTCTC	0.448													N|||	2	0.000399361	0.0	0.0	5008	,	,		23706	0.0		0.0	False		,,,				2504	0.002															0													235	228	231					6																	150240697		2203	4300	6503	SO:0001583	missense	353091			AY172579	CCDS43514.1	6q24.1-25.1	2009-04-29	2004-11-22		ENSG00000203722	ENSG00000203722			16795	protein-coding gene	gene with protein product		609244	"retinoic acid early transcript 1G pseudogene"			11827464, 15240696	Standard	NM_001001788		Approved	ULBP5	uc010kii.1	Q6H3X3	OTTHUMG00000015802	ENST00000367360.2:c.341T>C	6.37:g.150240697A>G	ENSP00000356329:p.Ile114Thr			Missense_Mutation	SNP	ENST00000367360.2	37	CCDS43514.1	.	.	.	.	.	.	.	.	.	.	A	0.003	-2.500490	0.00157	.	.	ENSG00000203722	ENST00000367360;ENST00000479265	T;T	0.00662	5.93;5.93	2.4	-2.21	0.06973	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	0.00109	0.0003	N	0.05574	-0.02	0.09310	N	1	B	0.11235	0.004	B	0.15052	0.012	T	0.28902	-1.0029	9	0.13470	T	0.59	.	0.432	0.00472	0.2687:0.1947:0.3388:0.1979	.	114	Q6H3X3	RET1G_HUMAN	T	114	ENSP00000356329:I114T;ENSP00000417503:I114T	ENSP00000356329:I114T	I	-	2	0	RAET1G	150282390	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.381000	0.02549	-0.582000	0.05929	-0.343000	0.07986	ATA		0.448	RAET1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042668.2			G	150240697	A	G	150240697	3	3	740	1	0	0	0	0	1	0	0	0	13006	449	16	3	679	3	RAET1G	6	150240697	Missense_Mutation	SNP	A	TCGA-KN-8434-01A-11D-2310-10	23952563	150240697	20874370	20	43182											
AUTS2	26053	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	7	70231281	70231281	+	Silent	SNP	C	C	T	rs374492620		TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr7:70231281C>T	ENST00000342771.4	+	9	1971	c.1650C>T	c.(1648-1650)atC>atT	p.I550I	AUTS2_ENST00000406775.2_Silent_p.I550I	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	550										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)		CCCACGCCATCCCACCCACCG	0.612																																																0								C	,	0,4406		0,0,2203	247	225	233		1650,1650	3.8	1	7		233	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	AUTS2	NM_001127231.1,NM_015570.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	550/1236,550/1260	70231281	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	26053			AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.1650C>T	7.37:g.70231281C>T			A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Silent	SNP	ENST00000342771.4	37	CCDS5539.1	.	.	.	.	.	.	.	.	.	.	C	10.49	1.364219	0.24684	0.0	1.16E-4	ENSG00000158321	ENST00000443672	.	.	.	5.56	3.76	0.43208	.	.	.	.	.	T	0.61924	0.2386	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57843	-0.7741	4	.	.	.	-15.7907	11.2114	0.48802	0.0:0.8031:0.1282:0.0686	.	.	.	.	F	92	.	.	S	+	2	0	AUTS2	69869217	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	4.034000	0.57289	0.715000	0.32103	0.561000	0.74099	TCC		0.612	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			T	70231281	C	T	70231281	2	4	740	1	0	0	0	0	0	0	0	1	1225	845	30	2		2	AUTS2	7	70231281	Silent	SNP	C	TCGA-KN-8434-01A-11D-2310-10		70231281	88907382	21	43183											
PCLO	27445	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	7	82544701	82544701	+	Missense_Mutation	SNP	A	A	T			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr7:82544701A>T	ENST00000333891.9	-	7	12938	c.12601T>A	c.(12601-12603)Tca>Aca	p.S4201T	PCLO_ENST00000437081.1_Missense_Mutation_p.S921T|PCLO_ENST00000423517.2_Missense_Mutation_p.S4201T	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						GAAAATTTTGACATTTTAGGG	0.378																																																0													74	65	68					7																	82544701		1857	4093	5950	SO:0001583	missense	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.12601T>A	7.37:g.82544701A>T	ENSP00000334319:p.Ser4201Thr			Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	A	8.038	0.763172	0.15914	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.27557	1.66;1.67	5.79	5.79	0.91817	.	.	.	.	.	T	0.24431	0.0592	L	0.31926	0.97	0.29450	N	0.8585	B;B;B	0.24258	0.003;0.1;0.1	B;B;B	0.23574	0.004;0.047;0.047	T	0.15809	-1.0424	9	0.87932	D	0	.	7.9552	0.30038	0.7289:0.1302:0.0:0.1408	.	4132;4201;4201	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	T	4201;4201;921	ENSP00000334319:S4201T;ENSP00000388393:S4201T	ENSP00000334319:S4201T	S	-	1	0	PCLO	82382637	0.475000	0.25894	1.000000	0.80357	0.991000	0.79684	1.033000	0.30191	2.216000	0.71823	0.377000	0.23210	TCA		0.378	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		T	82544701	A	T	82544701	3	4	740	1	0	0	0	0	1	0	0	0	11585	275	10	5	2920	5	PCLO	7	82544701	Missense_Mutation	SNP	A	TCGA-KN-8434-01A-11D-2310-10	12313420	82544701	76593962	22	43184											
SLC26A5	375611	bcgsc.ca	37	7	103038430	103038430	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr7:103038430A>G	ENST00000306312.3	-	9	1181	c.920T>C	c.(919-921)tTt>tCt	p.F307S	SLC26A5_ENST00000393730.1_Missense_Mutation_p.F307S|SLC26A5_ENST00000393729.1_Missense_Mutation_p.F270S|SLC26A5_ENST00000354356.4_5'UTR|SLC26A5_ENST00000432958.2_Missense_Mutation_p.F307S|SLC26A5_ENST00000339444.6_Missense_Mutation_p.F307S|SLC26A5_ENST00000393723.1_Missense_Mutation_p.F307S|SLC26A5_ENST00000393735.2_Missense_Mutation_p.F307S|SLC26A5_ENST00000393727.1_Missense_Mutation_p.F307S|SLC26A5_ENST00000356767.4_Missense_Mutation_p.F307S	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	307					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						TTTCAAGTTAAACCCAGCTGA	0.373																																																0													152	135	141					7																	103038430		2203	4300	6503	SO:0001583	missense	375611			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.920T>C	7.37:g.103038430A>G	ENSP00000304783:p.Phe307Ser		Q496J2|Q7Z7F3|Q86UF8|Q86UF9|Q86UG0	Missense_Mutation	SNP	ENST00000306312.3	37	CCDS5733.1	.	.	.	.	.	.	.	.	.	.	A	15.27	2.785153	0.49997	.	.	ENSG00000170615	ENST00000339444;ENST00000356767;ENST00000393735;ENST00000306312;ENST00000393730;ENST00000432958;ENST00000393729;ENST00000393727;ENST00000393723	D;D;D;D;D;D;D;D;D	0.93426	-3.22;-3.22;-3.22;-3.22;-3.22;-3.22;-3.22;-3.22;-3.22	5.87	4.72	0.59763	Sulphate transporter (1);	0.303544	0.37715	N	0.001965	D	0.89451	0.6719	L	0.31371	0.925	0.80722	D	1	B;P;B;P;P	0.47106	0.063;0.85;0.101;0.813;0.89	B;P;B;B;B	0.45276	0.145;0.475;0.089;0.262;0.262	D	0.87374	0.2352	10	0.34782	T	0.22	.	11.8608	0.52465	0.9312:0.0:0.0688:0.0	.	307;307;307;307;307	P58743;Q496J2;P58743-4;P58743-3;P58743-2	S26A5_HUMAN;.;.;.;.	S	307;307;307;307;307;307;270;307;307	ENSP00000342396:F307S;ENSP00000349210:F307S;ENSP00000377336:F307S;ENSP00000304783:F307S;ENSP00000377331:F307S;ENSP00000389733:F307S;ENSP00000377330:F270S;ENSP00000377328:F307S;ENSP00000377324:F307S	ENSP00000304783:F307S	F	-	2	0	SLC26A5	102825666	1.000000	0.71417	0.999000	0.59377	0.843000	0.47879	7.257000	0.78362	1.156000	0.42514	-0.256000	0.11100	TTT		0.373	SLC26A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313860.1	NM_198999		G	103038430	A	G	103038430	3	3	740	1	0	0	0	0	1	0	0	0	14526	14	1	3	1403	3	SLC26A5	7	103038430	Missense_Mutation	SNP	A	TCGA-KN-8434-01A-11D-2310-10	20493729	103038430	56100233	23	43185											
ZYX	7791	hgsc.bcm.edu	37	7	143078856	143078856	+	Silent	SNP	C	C	T	rs371579974		TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr7:143078856C>T	ENST00000322764.5	+	2	537	c.192C>T	c.(190-192)ccC>ccT	p.P64P	ZYX_ENST00000392910.2_5'Flank|ZYX_ENST00000449423.2_Silent_p.P8P|AC093673.5_ENST00000429630.1_RNA	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin	64	Pro-rich.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|integrin-mediated signaling pathway (GO:0007229)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					GCGAGATTCCCCCGCCGCCCC	0.706																																																0								C	,	0,3432		0,0,1716	3	4	3		192,192	0.4	1	7		3	4,7292		0,4,3644	no	coding-synonymous,coding-synonymous	ZYX	NM_001010972.1,NM_003461.4	,	0,4,5360	TT,TC,CC		0.0548,0.0,0.0373	,	64/573,64/573	143078856	4,10724	1716	3648	5364	SO:0001819	synonymous_variant	7791			X95735	CCDS5883.1	7q32	2010-02-26			ENSG00000159840	ENSG00000159840			13200	protein-coding gene	gene with protein product		602002				8917469, 8940160	Standard	XM_005250052		Approved		uc003wcx.3	Q15942	OTTHUMG00000023822	ENST00000322764.5:c.192C>T	7.37:g.143078856C>T			A4D2G6|Q6I9S4	Silent	SNP	ENST00000322764.5	37	CCDS5883.1																																																																																				0.706	ZYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156296.2	NM_003461		T	143078856	C	T	143078856	2	4	740	1	0	0	0	0	0	0	0	1	18259	610	22	2		2	ZYX	7	143078856	Silent	SNP	C	TCGA-KN-8434-01A-11D-2310-10	40040426	143078856	16059807	24	43186											
C9orf131	138724	hgsc.bcm.edu;ucsc.edu	37	9	35044753	35044753	+	Silent	SNP	G	G	A			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr9:35044753G>A	ENST00000312292.5	+	2	2174	c.2127G>A	c.(2125-2127)gtG>gtA	p.V709V	FLJ00273_ENST00000595331.1_5'Flank|C9orf131_ENST00000354479.5_Silent_p.V636V|C9orf131_ENST00000421362.2_Silent_p.V661V	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	709										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			GGAGAAATGTGCAACAAAGAG	0.552																																																0													62	60	61					9																	35044753		2203	4300	6503	SO:0001819	synonymous_variant	138724			BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.2127G>A	9.37:g.35044753G>A			A6NLE6|E9PB26|Q86XC6|Q9UF74	Silent	SNP	ENST00000312292.5	37	CCDS6572.2																																																																																				0.552	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	NM_203299		A	35044753	G	A	35044753	2	1	740	1	0	0	0	0	0	0	0	1	2459	1306	46	2		2	C9orf131	9	35044753	Silent	SNP	G	TCGA-KN-8434-01A-11D-2310-10		35044753	106168678	25	43187											
PRUNE2	158471	broad.mit.edu	37	9	79320843	79320843	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr9:79320843T>C	ENST00000376718.3	-	8	6470	c.6347A>G	c.(6346-6348)gAg>gGg	p.E2116G	PRUNE2_ENST00000428286.1_Missense_Mutation_p.E1757G	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2116					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						CTTCTCAGTCTCTTGCTTTGC	0.483																																																0													175	161	165					9																	79320843		1568	3582	5150	SO:0001583	missense	158471			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.6347A>G	9.37:g.79320843T>C	ENSP00000365908:p.Glu2116Gly		B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	T	7.829	0.719415	0.15372	.	.	ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033	T;T	0.50813	0.73;0.73	6.03	4.86	0.63082	.	0.622455	0.15290	N	0.270184	T	0.47021	0.1423	L	0.59436	1.845	0.25993	N	0.982217	B	0.21821	0.061	B	0.23275	0.045	T	0.45116	-0.9283	10	0.66056	D	0.02	-1.7704	12.6433	0.56721	0.0:0.0:0.4297:0.5703	.	2116	Q8WUY3	PRUN2_HUMAN	G	2116;1757;2115	ENSP00000365908:E2116G;ENSP00000397425:E1757G	ENSP00000365908:E2116G	E	-	2	0	PRUNE2	78510663	0.957000	0.32711	0.389000	0.26208	0.007000	0.05969	2.009000	0.40903	1.047000	0.40274	0.533000	0.62120	GAG		0.483	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		C	79320843	T	C	79320843	3	2	740	1	0	0	0	0	1	0	0	0	12646	1551	54	3	2967	3	PRUNE2	9	79320843	Missense_Mutation	SNP	T	TCGA-KN-8434-01A-11D-2310-10	44276090	79320843	61892588	26	43188											
TMEFF1	8577	mdanderson.org	37	9	103235853	103235853	+	Silent	SNP	G	G	T	rs77849433	byFrequency	TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr9:103235853G>T	ENST00000374879.4	+	1	459	c.27G>T	c.(25-27)ccG>ccT	p.P9P	MSANTD3-TMEFF1_ENST00000502978.1_Intron|TMEFF1_ENST00000334943.6_Intron	NM_003692.4	NP_003683.2	Q8IYR6	TEFF1_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 1	9					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)				CTGAGGCGCCGCTCCGGCTGC	0.751													G|||	400	0.0798722	0.0877	0.1138	5008	,	,		7642	0.001		0.1292	False		,,,				2504	0.0757															0								G	,	360,3810		24,312,1749	5	6	5		,27	3.1	1	9	dbSNP_131	5	1088,7026		89,910,3058	no	intron,coding-synonymous	TMEFF1,C9orf30-TMEFF1	NM_001198812.1,NM_003692.4	,	113,1222,4807	TT,TG,GG		13.4089,8.6331,11.7877	,	,9/381	103235853	1448,10836	2085	4057	6142	SO:0001819	synonymous_variant	8577			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.27G>T	9.37:g.103235853G>T			Q13086|Q8N3T8	Silent	SNP	ENST00000374879.4	37	CCDS6750.1																																																																																				0.751	TMEFF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053418.1	NM_003692		T	103235853	G	T	103235853	2	4	740	1	0	0	0	0	0	0	0	1	16018	1074	38	4		4	TMEFF1	9	103235853	Silent	SNP	G	TCGA-KN-8434-01A-11D-2310-10	23915010	103235853	37977578	27	43189											
TBC1D13	54662	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	9	131565713	131565713	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr9:131565713C>T	ENST00000372648.5	+	8	878	c.728C>T	c.(727-729)gCc>gTc	p.A243V	TBC1D13_ENST00000223865.8_Intron|TBC1D13_ENST00000466056.1_3'UTR|TBC1D13_ENST00000539497.1_Missense_Mutation_p.A62V	NM_018201.3	NP_060671.3	Q9NVG8	TBC13_HUMAN	TBC1 domain family, member 13	243	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	6						TACACCTTTGCCACCGACCCC	0.567																																																0													95	77	83					9																	131565713		2203	4300	6503	SO:0001583	missense	54662			AK001605	CCDS6911.1, CCDS69677.1	9q34.13	2013-07-09			ENSG00000107021	ENSG00000107021			25571	protein-coding gene	gene with protein product						22762500	Standard	XM_005252060		Approved	FLJ10743	uc010myj.3	Q9NVG8	OTTHUMG00000020760	ENST00000372648.5:c.728C>T	9.37:g.131565713C>T	ENSP00000361731:p.Ala243Val		A7E2E7|B3KW04|B9EGJ8|Q5T270|Q5T271	Missense_Mutation	SNP	ENST00000372648.5	37	CCDS6911.1	.	.	.	.	.	.	.	.	.	.	C	34	5.348749	0.95807	.	.	ENSG00000107021	ENST00000372648;ENST00000539497	T;T	0.11821	2.74;2.74	5.66	5.66	0.87406	Rab-GAP/TBC domain (4);	0.112447	0.64402	N	0.000012	T	0.39886	0.1095	M	0.78049	2.395	0.80722	D	1	D	0.71674	0.998	D	0.65573	0.936	T	0.13764	-1.0497	10	0.59425	D	0.04	-24.402	18.7486	0.91804	0.0:1.0:0.0:0.0	.	243	Q9NVG8	TBC13_HUMAN	V	243;62	ENSP00000361731:A243V;ENSP00000437751:A62V	ENSP00000361731:A243V	A	+	2	0	TBC1D13	130605534	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.870000	0.69620	2.675000	0.91044	0.655000	0.94253	GCC		0.567	TBC1D13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054496.1	NM_018201		T	131565713	C	T	131565713	3	4	740	1	0	0	0	0	1	0	0	0	15607	739	26	2	758	2	TBC1D13	9	131565713	Missense_Mutation	SNP	C	TCGA-KN-8434-01A-11D-2310-10	28329860	131565713	9647718	28	43190											
VENTX	27287	ucsc.edu;mdanderson.org;bcgsc.ca	37	10	135051543	135051543	+	Missense_Mutation	SNP	T	T	C	rs2240892	byFrequency	TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr10:135051543T>C	ENST00000325980.9	+	1	636	c.125T>C	c.(124-126)cTg>cCg	p.L42P		NM_014468.3	NP_055283.1	O95231	VENTX_HUMAN	VENT homeobox	42			L -> P (in dbSNP:rs2240892). {ECO:0000269|PubMed:15489334}.		multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1)	14		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		GACTTCTCCCTGGGGAGCCTC	0.716													T|||	1221	0.24381	0.2943	0.1859	5008	,	,		12549	0.376		0.1123	False		,,,				2504	0.2157															0								T	PRO/LEU	737,3379		49,639,1370	5	7	6		125	-2.4	0	10	dbSNP_98	6	776,7542		42,692,3425	no	missense	VENTX	NM_014468.2	98	91,1331,4795	CC,CT,TT		9.3292,17.9057,12.1682	benign	42/259	135051543	1513,10921	2058	4159	6217	SO:0001583	missense	27287			AF068006	CCDS7675.1	10q26.3	2011-06-20	2011-06-01	2005-09-27	ENSG00000151650	ENSG00000151650		"Homeoboxes / ANTP class : NKL subclass"	13639	protein-coding gene	gene with protein product		607158	"VENT-like homeobox 2", "VENT homeobox homolog (Xenopus laevis)"	VENTX2		10790436	Standard	NM_014468		Approved	HPX42B	uc010quy.1	O95231	OTTHUMG00000019307	ENST00000325980.9:c.125T>C	10.37:g.135051543T>C	ENSP00000357556:p.Leu42Pro		Q32MZ3	Missense_Mutation	SNP	ENST00000325980.9	37	CCDS7675.1	489	0.2239010989010989	143	0.29065040650406504	71	0.19613259668508287	190	0.3321678321678322	85	0.11213720316622691	T	2.856	-0.237276	0.05944	0.179057	0.093292	ENSG00000151650	ENST00000325980	T	0.43294	0.95	1.78	-2.36	0.06663	.	1.462090	0.04704	N	0.416452	T	0.00012	0.0000	N	0.03608	-0.345	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.32079	-0.9920	9	0.33940	T	0.23	.	0.8221	0.01113	0.1484:0.1943:0.2644:0.393	rs2240892;rs60200993;rs2240892	42	O95231	VENTX_HUMAN	P	42	ENSP00000357556:L42P	ENSP00000357556:L42P	L	+	2	0	VENTX	134901533	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.183000	0.09712	-0.933000	0.03737	-1.572000	0.00871	CTG		0.716	VENTX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051116.4	NM_014468		C	135051543	T	C	135051543	3	2	740	1	0	0	0	0	1	0	0	0	17158	1580	55	3	127	3	VENTX	10	135051543	Missense_Mutation	SNP	T	TCGA-KN-8434-01A-11D-2310-10		135051543	483204	29	43191											
MUC6	4588	broad.mit.edu	37	11	1018714	1018714	+	Missense_Mutation	SNP	G	G	A	rs371302246		TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr11:1018714G>A	ENST00000421673.2	-	31	4137	c.4087C>T	c.(4087-4089)Cgt>Tgt	p.R1363C		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1363	Pro-rich.|Thr-rich.				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)		GGGGTTGGACGTGGGCCTGTC	0.542																																																0									CYS/ARG	0,4370		0,0,2185	191	207	201		4087	1.4	0	11		201	1,8557		0,1,4278	no	missense	MUC6	NM_005961.2	180	0,1,6463	AA,AG,GG		0.0117,0.0,0.0077	probably-damaging	1363/2440	1018714	1,12927	2185	4279	6464	SO:0001583	missense	4588			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.4087C>T	11.37:g.1018714G>A	ENSP00000406861:p.Arg1363Cys		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	g	8.824	0.938199	0.18206	0.0	1.17E-4	ENSG00000184956	ENST00000421673	T	0.20069	2.1	1.39	1.39	0.22231	.	.	.	.	.	T	0.06554	0.0168	N	0.08118	0	0.09310	N	1	P	0.43477	0.808	B	0.20955	0.032	T	0.21109	-1.0255	9	0.52906	T	0.07	.	4.8411	0.13491	0.0:0.0:0.639:0.361	.	1363	Q6W4X9	MUC6_HUMAN	C	1363	ENSP00000406861:R1363C	ENSP00000406861:R1363C	R	-	1	0	MUC6	1008714	0.000000	0.05858	0.006000	0.13384	0.187000	0.23431	-3.997000	0.00317	1.103000	0.41568	0.298000	0.19748	CGT		0.542	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		A	1018714	G	A	1018714	3	1	740	1	0	0	0	0	1	0	0	0	9982	1145	40	1	3244	1	MUC6	11	1018714	Missense_Mutation	SNP	G	TCGA-KN-8434-01A-11D-2310-10		1018714	133987802	30	43192											
MRGPRE	116534	mdanderson.org	37	11	3249552	3249552	+	Missense_Mutation	SNP	C	C	T	rs4391795	byFrequency	TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr11:3249552C>T	ENST00000389832.5	-	2	784	c.478G>A	c.(478-480)Ggc>Agc	p.G160S	AC109309.4_ENST00000418995.2_RNA|MRGPRE_ENST00000436689.2_Missense_Mutation_p.G159S			Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	160			G -> S (in dbSNP:rs4391795).			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)		GTGCAGGCGCCGCTGAGCAGC	0.692													C|||	1467	0.292931	0.0953	0.2392	5008	,	,		13177	0.378		0.4523	False		,,,				2504	0.3466															0								C	SER/GLY	481,3647		34,413,1617	5	9	8		475	0.8	0	11	dbSNP_111	8	3172,5086		621,1930,1578	yes	missense	MRGPRE	NM_001039165.2	56	655,2343,3195	TT,TC,CC		38.4112,11.6521,29.493	probably-damaging	159/312	3249552	3653,8733	2064	4129	6193	SO:0001583	missense	116534			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.478G>A	11.37:g.3249552C>T	ENSP00000374482:p.Gly160Ser		Q2M1V7	Missense_Mutation	SNP	ENST00000389832.5	37		712	0.326007326007326	37	0.07520325203252033	100	0.27624309392265195	229	0.40034965034965037	346	0.45646437994722955	c	7.476	0.647610	0.14516	0.116521	0.384112	ENSG00000184350	ENST00000436689;ENST00000389832	.	.	.	3.75	0.817	0.18773	GPCR, rhodopsin-like superfamily (1);	0.506640	0.14301	U	0.328254	T	0.00012	0.0000	L	0.39397	1.21	0.80722	P	0.0	D	0.61080	0.989	P	0.55455	0.776	T	0.44697	-0.9311	8	0.24483	T	0.36	-11.0184	5.6296	0.17504	0.0:0.6298:0.0:0.3702	rs4391795;rs4990224	159	Q86SM8	MRGRE_HUMAN	S	160;159	.	ENSP00000374482:G159S	G	-	1	0	MRGPRE	3206128	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	0.733000	0.26087	-0.017000	0.14103	-0.229000	0.12294	GGC		0.692	MRGPRE-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000032346.5	XM_171536		T	3249552	C	T	3249552	3	4	740	1	0	0	0	0	1	0	0	0	9766	652	23	1	464	1	MRGPRE	11	3249552	Missense_Mutation	SNP	C	TCGA-KN-8434-01A-11D-2310-10	2230838	3249552	131756964	31	43193											
CDC42BPG	55561	hgsc.bcm.edu;ucsc.edu	37	11	64600192	64600192	+	Silent	SNP	C	C	A			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr11:64600192C>A	ENST00000342711.5	-	26	2888	c.2889G>T	c.(2887-2889)cgG>cgT	p.R963R	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						GCCAGCCCCGCCGGACACCTG	0.711																																																0													17	21	20					11																	64600192		2196	4291	6487	SO:0001819	synonymous_variant	55561			AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"Pleckstrin homology (PH) domain containing"	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.2889G>T	11.37:g.64600192C>A				Silent	SNP	ENST00000342711.5	37	CCDS31601.1																																																																																				0.711	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516		A	64600192	C	A	64600192	2	1	740	1	0	0	0	0	0	0	0	1	3076	726	26	4		4	CDC42BPG	11	64600192	Silent	SNP	C	TCGA-KN-8434-01A-11D-2310-10	61350640	64600192	70406324	32	43194											
SIPA1	6494	hgsc.bcm.edu	37	11	65414344	65414344	+	Missense_Mutation	SNP	C	C	G	rs201341786		TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr11:65414344C>G	ENST00000394224.3	+	8	2135	c.1839C>G	c.(1837-1839)atC>atG	p.I613M	SIPA1_ENST00000394227.3_Intron|MIR4489_ENST00000578869.1_RNA|SIPA1_ENST00000534313.1_Missense_Mutation_p.I613M|SIPA1_ENST00000527525.1_Intron	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	613					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						TGCTGGGCATCTCGGCCGAGG	0.746																																																0								C	MET/ILE,MET/ILE	0,3598		0,0,1799	6	7	6		1839,1839	1.5	1	11		6	17,6795		0,17,3389	no	missense,missense	SIPA1	NM_006747.3,NM_153253.29	10,10	0,17,5188	GG,GC,CC		0.2496,0.0,0.1633	benign,benign	613/1043,613/1043	65414344	17,10393	1799	3406	5205	SO:0001583	missense	6494			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.1839C>G	11.37:g.65414344C>G	ENSP00000377771:p.Ile613Met		O14518|O60484|O60618|Q2YD83	Missense_Mutation	SNP	ENST00000394224.3	37	CCDS8108.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.462676	0.43736	0.0	0.002496	ENSG00000213445	ENST00000534313;ENST00000394224	T;T	0.51574	0.7;0.7	3.42	1.52	0.23074	.	0.271361	0.23764	U	0.044793	T	0.39332	0.1074	L	0.49571	1.57	0.80722	D	1	B	0.32968	0.392	B	0.34991	0.193	T	0.26052	-1.0114	10	0.87932	D	0	-15.0648	7.2625	0.26212	0.0:0.7707:0.0:0.2293	.	613	Q96FS4	SIPA1_HUMAN	M	613	ENSP00000436269:I613M;ENSP00000377771:I613M	ENSP00000377771:I613M	I	+	3	3	SIPA1	65170920	0.989000	0.36119	0.990000	0.47175	0.919000	0.55068	0.278000	0.18753	0.280000	0.22209	0.297000	0.19635	ATC		0.746	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390356.1	NM_006747		G	65414344	C	G	65414344	3	3	740	1	0	0	0	0	1	0	0	0	14334	903	32	4	1865	4	SIPA1	11	65414344	Missense_Mutation	SNP	C	TCGA-KN-8434-01A-11D-2310-10	814152	65414344	69592172	33	43195											
RIN1	9610	mdanderson.org	37	11	66102088	66102088	+	Silent	SNP	G	G	A	rs3814740	byFrequency	TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr11:66102088G>A	ENST00000311320.4	-	6	1308	c.1182C>T	c.(1180-1182)ccC>ccT	p.P394P	RIN1_ENST00000424433.2_Silent_p.P289P|RP11-867G23.12_ENST00000526655.1_RNA|RIN1_ENST00000524804.1_5'Flank|RIN1_ENST00000530056.1_Silent_p.P289P	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	394	Ras and 14-3-3 protein binding region.			AGPE -> DGQR (in Ref. 1, 2 and 3). {ECO:0000305}.	associative learning (GO:0008306)|endocytosis (GO:0006897)|memory (GO:0007613)|negative regulation of synaptic plasticity (GO:0031914)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						CCTGGGGCTCGGGCCCAGCCC	0.721													G|||	740	0.147764	0.3026	0.0836	5008	,	,		11802	0.1399		0.0885	False		,,,				2504	0.0532															0								G		1109,3245		154,801,1222	10	11	11		1182	-8.5	0	11	dbSNP_107	11	652,7874		43,566,3654	no	coding-synonymous	RIN1	NM_004292.2		197,1367,4876	AA,AG,GG		7.6472,25.4708,13.6724		394/784	66102088	1761,11119	2177	4263	6440	SO:0001819	synonymous_variant	9610			L36463	CCDS31614.1	11q13.2	2005-09-18				ENSG00000174791			18749	protein-coding gene	gene with protein product		605965				9144171, 1849280	Standard	NM_004292		Approved		uc001ohn.1	Q13671		ENST00000311320.4:c.1182C>T	11.37:g.66102088G>A			O15010|Q00427|Q96CC8	Silent	SNP	ENST00000311320.4	37	CCDS31614.1																																																																																				0.721	RIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392980.2	NM_004292		A	66102088	G	A	66102088	2	1	740	1	0	0	0	0	0	0	0	1	13377	1103	39	1		1	RIN1	11	66102088	Silent	SNP	G	TCGA-KN-8434-01A-11D-2310-10	687744	66102088	68904428	34	43196											
ABCG4	64137	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	11	119024755	119024755	+	Silent	SNP	G	G	A			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr11:119024755G>A	ENST00000449422.2	+	3	446	c.258G>A	c.(256-258)aaG>aaA	p.K86K	ABCG4_ENST00000307417.3_Silent_p.K86K|ABCG4_ENST00000531739.1_Silent_p.K86K	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	86	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				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)		CCCTTCTCAAGTGCCTCTCAG	0.522																																																0													105	113	110					11																	119024755		2200	4295	6495	SO:0001819	synonymous_variant	64137			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.258G>A	11.37:g.119024755G>A			A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Silent	SNP	ENST00000449422.2	37	CCDS8415.1																																																																																				0.522	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388215.1	NM_022169		A	119024755	G	A	119024755	2	1	740	1	0	0	0	0	0	0	0	1	70	1020	36	2		2	ABCG4	11	119024755	Silent	SNP	G	TCGA-KN-8434-01A-11D-2310-10	52922667	119024755	15981761	35	43197											
TAS2R43	259289	mdanderson.org	37	12	11244603	11244603	+	Missense_Mutation	SNP	T	T	A	rs200999522	byFrequency	TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr12:11244603T>A	ENST00000531678.1	-	1	309	c.226A>T	c.(226-228)Aat>Tat	p.N76Y	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176884.2	NP_795365.2	P59537	T2R43_HUMAN	taste receptor, type 2, member 43	76					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(1)|ovary(1)|prostate(2)|urinary_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		TCTACACTATTAAAAGCTGGA	0.398																																																0													50	43	46					12																	11244603		1915	3971	5886	SO:0001583	missense	259289			AF494237	CCDS53749.1	12p13.2	2012-08-22				ENSG00000255374		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18875	protein-coding gene	gene with protein product		612668				12379855	Standard	NM_176884		Approved	T2R52	uc001qzq.1	P59537		ENST00000531678.1:c.226A>T	12.37:g.11244603T>A	ENSP00000431719:p.Asn76Tyr		P59546|Q645X4	Missense_Mutation	SNP	ENST00000531678.1	37	CCDS53749.1	.	.	.	.	.	.	.	.	.	.	-	0	-2.676482	0.00102	.	.	ENSG00000255374	ENST00000531678	T	0.35789	1.29	1.97	-3.32	0.04973	.	.	.	.	.	T	0.03136	0.0092	N	0.00007	-3.165	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.34976	-0.9807	8	0.02654	T	1	.	2.2701	0.04088	0.4334:0.0:0.3302:0.2364	.	76	P59537	T2R43_HUMAN	Y	76	ENSP00000431719:N76Y	ENSP00000431719:N76Y	N	-	1	0	TAS2R43	11135870	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.204000	0.09425	-0.948000	0.03668	-1.812000	0.00611	AAT		0.398	TAS2R43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383561.1	NM_176884		A	11244603	T	A	11244603	3	1	740	1	0	0	0	0	1	0	0	0	15586	1754	61	5	707	5	TAS2R43	12	11244603	Missense_Mutation	SNP	T	TCGA-KN-8434-01A-11D-2310-10		11244603	122607292	36	43198											
PPP1R1A	5502	hgsc.bcm.edu	37	12	54982196	54982196	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr12:54982196G>A	ENST00000257905.8	-	1	247	c.77C>T	c.(76-78)gCg>gTg	p.A26V	PPP1R1A_ENST00000547431.1_Missense_Mutation_p.A26V	NM_006741.3	NP_006732	Q13522	PPR1A_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1A	26					glycogen metabolic process (GO:0005977)|negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	protein serine/threonine phosphatase inhibitor activity (GO:0004865)			lung(2)	2						CACCTGCTCCGCCGCCTCGGG	0.721																																																0													5	7	6					12																	54982196		1704	3661	5365	SO:0001583	missense	5502			U48707	CCDS44912.1	12q13.2	2012-04-17			ENSG00000135447	ENSG00000135447	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9286	protein-coding gene	gene with protein product		613246				8611507	Standard	NM_006741		Approved		uc001sgg.2	Q13522	OTTHUMG00000169934	ENST00000257905.8:c.77C>T	12.37:g.54982196G>A	ENSP00000257905:p.Ala26Val		Q6IB01|Q8TBJ2|Q8WWV2	Missense_Mutation	SNP	ENST00000257905.8	37	CCDS44912.1	.	.	.	.	.	.	.	.	.	.	g	21.8	4.206739	0.79127	.	.	ENSG00000135447	ENST00000379690;ENST00000257905	T	0.29142	1.58	3.73	2.73	0.32206	.	0.174694	0.33772	N	0.004572	T	0.28400	0.0702	L	0.38531	1.155	0.25462	N	0.987909	P	0.51791	0.948	P	0.50934	0.654	T	0.05435	-1.0885	10	0.25751	T	0.34	.	8.5449	0.33415	0.0:0.2389:0.7611:0.0	.	26	Q13522	PPR1A_HUMAN	V	26	ENSP00000257905:A26V	ENSP00000257905:A26V	A	-	2	0	PPP1R1A	53268463	0.944000	0.32072	1.000000	0.80357	0.980000	0.70556	3.933000	0.56545	1.817000	0.53016	0.306000	0.20318	GCG		0.721	PPP1R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406604.1	NM_006741		A	54982196	G	A	54982196	3	1	740	1	0	0	0	0	1	0	0	0	12372	1087	38	1	466	1	PPP1R1A	12	54982196	Missense_Mutation	SNP	G	TCGA-KN-8434-01A-11D-2310-10	43737593	54982196	78869699	37	43199											
PABPC3	5042	mdanderson.org	37	13	25670851	25670851	+	Missense_Mutation	SNP	A	A	G	rs75475407	byFrequency	TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr13:25670851A>G	ENST00000281589.3	+	1	552	c.515A>G	c.(514-516)cAa>cGa	p.Q172R		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	172	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TTTGTTGGACAATTTAAGTCT	0.393													g|||	253	0.0505192	0.0719	0.0576	5008	,	,		22064	0.0268		0.0318	False		,,,				2504	0.0603															0													110	104	106					13																	25670851		2203	4300	6503	SO:0001583	missense	5042			AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"RNA binding motif (RRM) containing"	8556	protein-coding gene	gene with protein product	"testis PABP"	604680	"poly(A)-binding protein, cytoplasmic 3"	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.515A>G	13.37:g.25670851A>G	ENSP00000281589:p.Gln172Arg		Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	A	0.065	-1.215282	0.01542	.	.	ENSG00000151846	ENST00000281589	T	0.75704	-0.96	0.828	-0.101	0.13618	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.358703	0.18389	N	0.142734	T	0.42877	0.1222	N	0.10664	0.02	0.21841	N	0.99951	B	0.02656	0.0	B	0.01281	0.0	T	0.34079	-0.9843	10	0.02654	T	1	.	5.2926	0.15735	0.2365:0.0:0.7635:0.0	.	172	Q9H361	PABP3_HUMAN	R	172	ENSP00000281589:Q172R	ENSP00000281589:Q172R	Q	+	2	0	PABPC3	24568851	1.000000	0.71417	0.921000	0.36526	0.168000	0.22595	4.799000	0.62517	-0.074000	0.12820	-0.769000	0.03391	CAA		0.393	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		G	25670851	A	G	25670851	3	3	740	1	0	0	0	0	1	0	0	0	11367	130	5	3	517	3	PABPC3	13	25670851	Missense_Mutation	SNP	A	TCGA-KN-8434-01A-11D-2310-10		25670851	89499027	38	43200											
CLN5	1203	mdanderson.org	37	13	77566090	77566090	+	Missense_Mutation	SNP	C	C	T	rs77416795	byFrequency	TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr13:77566090C>T	ENST00000377453.3	+	1	1296	c.4C>T	c.(4-6)Cgc>Tgc	p.R2C		NM_006493.2	NP_006484.1	O75503	CLN5_HUMAN	ceroid-lipofuscinosis, neuronal 5	0					brain development (GO:0007420)|cell death (GO:0008219)|glycosylation (GO:0070085)|lysosomal lumen acidification (GO:0007042)|neurogenesis (GO:0022008)|neuron maturation (GO:0042551)|protein catabolic process (GO:0030163)|signal peptide processing (GO:0006465)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|vacuolar lumen (GO:0005775)	mannose binding (GO:0005537)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0503)		AGGTGTCATGCGCCGGAACCT	0.706													C|||	698	0.139377	0.1293	0.2608	5008	,	,		12735	0.1071		0.0994	False		,,,				2504	0.1411															0								C	CYS/ARG	400,3146		17,366,1390	3	4	3		4	2.1	0	13	dbSNP_131	3	731,6513		40,651,2931	yes	missense	CLN5	NM_006493.2	180	57,1017,4321	TT,TC,CC		10.0911,11.2803,10.4819		2/408	77566090	1131,9659	1773	3622	5395	SO:0001583	missense	1203				CCDS9456.1	13q21.2-q32	2014-09-17			ENSG00000102805	ENSG00000102805			2076	protein-coding gene	gene with protein product		608102				7942847, 8661106	Standard	NM_006493		Approved		uc001vkc.3	O75503	OTTHUMG00000017100	ENST00000377453.3:c.4C>T	13.37:g.77566090C>T	ENSP00000366673:p.Arg2Cys		B3KQK7	Missense_Mutation	SNP	ENST00000377453.3	37	CCDS9456.1	275	0.1259157509157509	67	0.13617886178861788	74	0.20441988950276244	58	0.10139860139860139	76	0.10026385224274406	C	14.02	2.409456	0.42715	0.112803	0.100911	ENSG00000102805	ENST00000377453	T	0.35605	1.3	3.0	2.13	0.27403	.	.	.	.	.	T	0.00039	0.0001	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.13845	-1.0494	5	0.87932	D	0	.	3.9634	0.09421	0.2315:0.6377:0.0:0.1308	.	.	.	.	C	2	ENSP00000366673:R2C	ENSP00000366673:R2C	R	+	1	0	CLN5	76464091	0.002000	0.14202	0.006000	0.13384	0.017000	0.09413	0.035000	0.13797	0.794000	0.33899	0.462000	0.41574	CGC		0.706	CLN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045318.1	NM_006493		T	77566090	C	T	77566090	3	4	740	1	0	0	0	0	1	0	0	0	3546	768	27	1	6	1	CLN5	13	77566090	Missense_Mutation	SNP	C	TCGA-KN-8434-01A-11D-2310-10	51895239	77566090	37603788	39	43201											
DOCK9	23348	broad.mit.edu	37	13	99476685	99476685	+	Silent	SNP	T	T	C			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr13:99476685T>C	ENST00000376460.1	-	46	5177	c.5097A>G	c.(5095-5097)gaA>gaG	p.E1699E	DOCK9_ENST00000339416.2_Silent_p.E1700E|DOCK9_ENST00000448493.2_3'UTR	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1700	DHR-2.				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)					TCCCCACGTCTTCCATCATGG	0.542																																																0													166	162	163					13																	99476685		2025	4165	6190	SO:0001819	synonymous_variant	23348			AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"Pleckstrin homology (PH) domain containing"	14132	protein-coding gene	gene with protein product	"zizimin1"	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.5097A>G	13.37:g.99476685T>C			B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Silent	SNP	ENST00000376460.1	37	CCDS45062.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.19|10.19	1.281689|1.281689	0.23392|0.23392	.|.	.|.	ENSG00000088387|ENSG00000088387	ENST00000419908|ENST00000400228	.|.	.|.	.|.	5.43|5.43	3.0|3.0	0.34707|0.34707	.|.	.|.	.|.	.|.	.|.	T|T	0.58264|0.58264	0.2110|0.2110	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.50996|0.50996	-0.8761|-0.8761	4|4	.|.	.|.	.|.	.|.	8.8472|8.8472	0.35177|0.35177	0.0:0.2321:0.0:0.7679|0.0:0.2321:0.0:0.7679	.|.	.|.	.|.	.|.	R|G	117|264	.|.	.|.	K|R	-|-	2|1	0|2	DOCK9|DOCK9	98274686|98274686	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.997000|0.997000	0.91878|0.91878	1.521000|1.521000	0.35910|0.35910	0.371000|0.371000	0.24564|0.24564	0.533000|0.533000	0.62120|0.62120	AAG|AGA		0.542	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1	NM_015296		C	99476685	T	C	99476685	2	2	740	1	0	0	0	0	0	0	0	1	4696	1606	56	3		3	DOCK9	13	99476685	Silent	SNP	T	TCGA-KN-8434-01A-11D-2310-10	21910595	99476685	15693193	40	43202											
KCNH5	27133	broad.mit.edu	37	14	63316516	63316516	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr14:63316516T>C	ENST00000322893.7	-	8	1692	c.1424A>G	c.(1423-1425)tAt>tGt	p.Y475C	KCNH5_ENST00000394968.1_Missense_Mutation_p.Y417C|KCNH5_ENST00000420622.2_Missense_Mutation_p.Y475C	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	475					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)		GGTGTTGGCATACATTTGCTG	0.358																																																0													145	127	133					14																	63316516		2203	4299	6502	SO:0001583	missense	27133			U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.1424A>G	14.37:g.63316516T>C	ENSP00000321427:p.Tyr475Cys		C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.135686	0.77662	.	.	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968	D;D;D	0.99080	-5.4;-5.18;-5.2	5.36	5.36	0.76844	Cyclic nucleotide-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.99293	0.9753	M	0.87971	2.92	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.74674	0.967;0.959;0.984	D	0.99075	1.0835	10	0.87932	D	0	.	14.8119	0.70003	0.0:0.0:0.0:1.0	.	417;475;475	Q8NCM2-3;Q8NCM2-2;Q8NCM2	.;.;KCNH5_HUMAN	C	475;475;417	ENSP00000321427:Y475C;ENSP00000395439:Y475C;ENSP00000378419:Y417C	ENSP00000321427:Y475C	Y	-	2	0	KCNH5	62386269	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.997000	0.88414	2.147000	0.66899	0.528000	0.53228	TAT		0.358	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		C	63316516	T	C	63316516	3	2	740	1	0	0	0	0	1	0	0	0	8037	1406	49	3	1592	3	KCNH5	14	63316516	Missense_Mutation	SNP	T	TCGA-KN-8434-01A-11D-2310-10		63316516	44033024	41	43203											
MESDC1	59274	mdanderson.org	37	15	81294774	81294774	+	Silent	SNP	G	G	C	rs11541231	byFrequency	TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr15:81294774G>C	ENST00000267984.2	+	1	1480	c.162G>C	c.(160-162)tcG>tcC	p.S54S		NM_022566.2	NP_072088.1	Q9H1K6	MESD1_HUMAN	mesoderm development candidate 1	54										endometrium(1)|lung(2)	3						TGCTGCTGTCGAGCGAGGCGC	0.701													G|||	137	0.0273562	0.003	0.0951	5008	,	,		9514	0.0		0.0457	False		,,,				2504	0.0215															0								G		48,3752		2,44,1854	11	9	10		162	-8.7	0.9	15	dbSNP_120	10	281,7351		5,271,3540	no	coding-synonymous	MESDC1	NM_022566.2		7,315,5394	CC,CG,GG		3.6819,1.2632,2.8779		54/363	81294774	329,11103	1900	3816	5716	SO:0001819	synonymous_variant	59274			AY007810	CCDS10316.1	15q13	2008-07-18			ENSG00000140406	ENSG00000140406			13519	protein-coding gene	gene with protein product		615466				11247670	Standard	NM_022566		Approved	MGC99595	uc002bfz.3	Q9H1K6	OTTHUMG00000144185	ENST00000267984.2:c.162G>C	15.37:g.81294774G>C				Silent	SNP	ENST00000267984.2	37	CCDS10316.1																																																																																				0.701	MESDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291390.1	NM_022566		C	81294774	G	C	81294774	2	2	740	1	0	0	0	0	0	0	0	1	9482	1045	37	4		4	MESDC1	15	81294774	Silent	SNP	G	TCGA-KN-8434-01A-11D-2310-10		81294774	21236618	42	43204											
PKD1	5310	hgsc.bcm.edu	37	16	2139968	2139968	+	Silent	SNP	G	G	A			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr16:2139968G>A	ENST00000262304.4	-	46	12880	c.12672C>T	c.(12670-12672)acC>acT	p.T4224T	PKD1_ENST00000423118.1_Silent_p.T4223T|MIR1225_ENST00000408729.1_RNA|RP11-304L19.1_ENST00000570072.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	4224					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						GGTCAAACTGGGTGAGCAGGG	0.687																																																0													32	31	31					16																	2139968		2193	4293	6486	SO:0001819	synonymous_variant	5310			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.12672C>T	16.37:g.2139968G>A			Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	CCDS32369.1																																																																																				0.687	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			A	2139968	G	A	2139968	2	1	740	1	0	0	0	0	0	0	0	1	11965	1219	43	2		2	PKD1	16	2139968	Silent	SNP	G	TCGA-KN-8434-01A-11D-2310-10		2139968	88214785	43	43205											
NTN3	4917	bcgsc.ca	37	16	2523296	2523296	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr16:2523296A>G	ENST00000293973.1	+	4	1498	c.1295A>G	c.(1294-1296)gAc>gGc	p.D432G	TBC1D24_ENST00000293970.5_5'Flank|TBC1D24_ENST00000567020.1_5'Flank	NM_006181.2	NP_006172.1	O00634	NET3_HUMAN	netrin 3	432					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						CCCACTGAGGACAGCAGCCCT	0.647																																																0													92	109	103					16																	2523296		2198	4298	6496	SO:0001583	missense	4917			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.1295A>G	16.37:g.2523296A>G	ENSP00000293973:p.Asp432Gly			Missense_Mutation	SNP	ENST00000293973.1	37	CCDS10469.1	.	.	.	.	.	.	.	.	.	.	A	2.177	-0.388519	0.04932	.	.	ENSG00000162068	ENST00000293973	T	0.35789	1.29	3.8	1.25	0.21368	.	0.345781	0.25154	N	0.032739	T	0.13243	0.0321	N	0.08118	0	0.09310	N	1	B	0.16166	0.016	B	0.14023	0.01	T	0.10200	-1.0640	10	0.21540	T	0.41	.	2.0831	0.03640	0.4809:0.0:0.2595:0.2596	.	432	O00634	NET3_HUMAN	G	432	ENSP00000293973:D432G	ENSP00000293973:D432G	D	+	2	0	NTN3	2463297	0.712000	0.27916	0.956000	0.39512	0.886000	0.51366	1.231000	0.32624	1.372000	0.46190	0.260000	0.18958	GAC		0.647	NTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250812.1	NM_006181		G	2523296	A	G	2523296	3	3	740	1	0	0	0	0	1	0	0	0	10703	275	10	3	1309	3	NTN3	16	2523296	Missense_Mutation	SNP	A	TCGA-KN-8434-01A-11D-2310-10	383328	2523296	87831457	44	43206											
XYLT1	64131	ucsc.edu;mdanderson.org;bcgsc.ca	37	16	17235168	17235168	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr16:17235168G>A	ENST00000261381.6	-	7	1513	c.1429C>T	c.(1429-1431)Cgc>Tgc	p.R477C	CTD-2576D5.4_ENST00000567344.1_RNA	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	477					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						TCTCCCAGGCGCCACATGTGA	0.597																																																0													74	75	75					16																	17235168		2197	4300	6497	SO:0001583	missense	64131			AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	15516	protein-coding gene	gene with protein product	"protein xylosyltransferase 1"	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.1429C>T	16.37:g.17235168G>A	ENSP00000261381:p.Arg477Cys		Q9H1B6	Missense_Mutation	SNP	ENST00000261381.6	37	CCDS10569.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.676602	0.88445	.	.	ENSG00000103489	ENST00000261381	T	0.06608	3.28	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.33847	0.0877	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.11324	-1.0592	10	0.87932	D	0	-41.8453	19.2966	0.94124	0.0:0.0:1.0:0.0	.	477	Q86Y38	XYLT1_HUMAN	C	477	ENSP00000261381:R477C	ENSP00000261381:R477C	R	-	1	0	XYLT1	17142669	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.392000	0.66272	2.797000	0.96272	0.555000	0.69702	CGC		0.597	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		A	17235168	G	A	17235168	3	1	740	1	0	0	0	0	1	0	0	0	17468	1087	38	1	1474	1	XYLT1	16	17235168	Missense_Mutation	SNP	G	TCGA-KN-8434-01A-11D-2310-10	14711872	17235168	73119585	45	43207											
ARMC5	79798	broad.mit.edu	37	16	31471187	31471189	+	In_Frame_Del	DEL	GTC	GTC	-	rs199693319|rs184376263|rs538649451	byFrequency	TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	GTC	GTC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr16:31471187_31471189delGTC	ENST00000563544.1	+	2	888_890	c.342_344delGTC	c.(340-345)gtgtcg>gtg	p.S118del	ARMC5_ENST00000412665.2_5'Flank|ARMC5_ENST00000268314.4_In_Frame_Del_p.S118del|ARMC5_ENST00000457010.2_In_Frame_Del_p.S118del|RP11-452L6.5_ENST00000564629.1_RNA|ARMC5_ENST00000538189.1_In_Frame_Del_p.S150del|ARMC5_ENST00000408912.3_In_Frame_Del_p.S213del			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	118										central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						ccTCCGCTGTGTCGTCGTCTAGT	0.734														2	0.000399361	0.0	0.0	5008	,	,		10839	0.001		0.0	False		,,,				2504	0.001															0									,	2,3402		1,0,1701					,	-4.4	0			11	12,7356		5,2,3677	no	coding,coding	ARMC5	NM_024742.2,NM_001105247.1	,	6,2,5378	A1A1,A1R,RR		0.1629,0.0588,0.13	,	,		14,10758				SO:0001651	inframe_deletion	79798			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.342_344delGTC	16.37:g.31471193_31471195delGTC	ENSP00000456877:p.Ser118del		Q86WM9|Q9H7P8|Q9H925	In_Frame_Del	DEL	ENST00000563544.1	37	CCDS45472.1																																																																																				0.734	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432847.1	NM_024742		-	31471189	GTC	-	31471187	7	5	740	1	0	1	0	1	0	0	0	0	954	1364	48	0	344	0	ARMC5	16	31471187	In_Frame_Del	DEL	GTC	TCGA-KN-8434-01A-11D-2310-10	14236019	31471187	58883566	46	43208											
POLR2A	5430	broad.mit.edu	37	17	7404959	7404959	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr17:7404959T>C	ENST00000322644.6	+	14	2659	c.2260T>C	c.(2260-2262)Tcc>Ccc	p.S754P		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	754					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)				CAAGACTGGCTCCTCTGCTCA	0.502																																																0													83	78	80					17																	7404959		2203	4300	6503	SO:0001583	missense	5430					17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"RNA polymerase subunits"	9187	protein-coding gene	gene with protein product	"DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit", "RNA polymerase II subunit B1"	180660	"polymerase (RNA) II (DNA directed) polypeptide A (220kD)"	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.2260T>C	17.37:g.7404959T>C	ENSP00000314949:p.Ser754Pro		A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	37	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.613984	0.87359	.	.	ENSG00000181222	ENST00000535204;ENST00000322644	T	0.66815	-0.23	6.07	6.07	0.98685	RNA polymerase Rpb1, domain 4 (1);	0.000000	0.85682	D	0.000000	T	0.73853	0.3640	M	0.62723	1.935	0.80722	D	1	P	0.42039	0.769	P	0.49451	0.611	T	0.76468	-0.2948	10	0.87932	D	0	-16.3469	15.6114	0.76721	0.0:0.0:0.0:1.0	.	754	P24928	RPB1_HUMAN	P	710;754	ENSP00000314949:S754P	ENSP00000314949:S754P	S	+	1	0	SLC35G6	7345683	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.861000	0.87004	2.326000	0.78906	0.533000	0.62120	TCC		0.502	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		C	7404959	T	C	7404959	3	2	740	1	0	0	0	0	1	0	0	0	12216	1551	54	3	2314	3	POLR2A	17	7404959	Missense_Mutation	SNP	T	TCGA-KN-8434-01A-11D-2310-10		7404959	73790251	47	43209											
FXR2	9513	bcgsc.ca	37	17	7506235	7506235	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr17:7506235A>G	ENST00000250113.7	-	6	869	c.535T>C	c.(535-537)Ttc>Ctc	p.F179L		NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	179						cytoplasm (GO:0005737)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.?(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		ACCAGAATGAAGAGCTCACTG	0.393																																																1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)											101	97	98					17																	7506235		1855	4101	5956	SO:0001583	missense	9513			U31501	CCDS45604.1	17p13.3	2014-09-17				ENSG00000129245			4024	protein-coding gene	gene with protein product		605339		FMR1L2		7489725, 9259278	Standard	NM_004860		Approved		uc002gia.2	P51116		ENST00000250113.7:c.535T>C	17.37:g.7506235A>G	ENSP00000250113:p.Phe179Leu		B2R9M2|D3DTQ1|Q86V09|Q8WUM2	Missense_Mutation	SNP	ENST00000250113.7	37	CCDS45604.1	.	.	.	.	.	.	.	.	.	.	A	11.35	1.611895	0.28712	.	.	ENSG00000129245	ENST00000250113	T	0.32515	1.45	6.03	6.03	0.97812	.	0.104089	0.64402	D	0.000003	T	0.11965	0.0291	N	0.01576	-0.805	0.32738	N	0.508139	B;B	0.10296	0.003;0.003	B;B	0.12837	0.008;0.003	T	0.13282	-1.0515	10	0.30078	T	0.28	0.1318	9.7513	0.40477	0.8461:0.0:0.0:0.1539	.	179;179	Q86V09;P51116	.;FXR2_HUMAN	L	179	ENSP00000250113:F179L	ENSP00000250113:F179L	F	-	1	0	FXR2	7446960	0.997000	0.39634	1.000000	0.80357	0.760000	0.43138	1.591000	0.36665	2.308000	0.77769	0.533000	0.62120	TTC		0.393	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441084.1			G	7506235	A	G	7506235	3	3	740	1	0	0	0	0	1	0	0	0	6118	72	3	3	1434	3	FXR2	17	7506235	Missense_Mutation	SNP	A	TCGA-KN-8434-01A-11D-2310-10	101276	7506235	73688975	48	43210											
SHBG	6462	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	17	7534020	7534020	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr17:7534020C>T	ENST00000380450.4	+	3	257	c.226C>T	c.(226-228)Cga>Tga	p.R76*	SAT2_ENST00000269298.5_5'Flank|SHBG_ENST00000572182.1_Nonsense_Mutation_p.R18*|SHBG_ENST00000574539.1_Nonsense_Mutation_p.R18*|SHBG_ENST00000575903.1_Nonsense_Mutation_p.R76*|SHBG_ENST00000576728.1_Nonsense_Mutation_p.R18*|SHBG_ENST00000576478.1_Nonsense_Mutation_p.R18*|SHBG_ENST00000441599.2_Nonsense_Mutation_p.R76*|SHBG_ENST00000575314.1_Nonsense_Mutation_p.R18*|SHBG_ENST00000570547.1_Nonsense_Mutation_p.R18*|SHBG_ENST00000572262.1_Nonsense_Mutation_p.R18*|SHBG_ENST00000340624.5_Nonsense_Mutation_p.R18*|SHBG_ENST00000416273.3_Nonsense_Mutation_p.R76*|SAT2_ENST00000573566.1_5'Flank|SAT2_ENST00000380466.2_5'Flank	NM_001040.3	NP_001031.2	P04278	SHBG_HUMAN	sex hormone-binding globulin	76	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				primary spermatocyte growth (GO:0007285)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	androgen binding (GO:0005497)	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)	CTTTGAGGTTCGAACCTGGGA	0.502																																																1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)											65	62	63					17																	7534020		2203	4300	6503	SO:0001587	stop_gained	6462				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.226C>T	17.37:g.7534020C>T	ENSP00000369816:p.Arg76*		B0FWH4|E9PGW1|F5H5Z8|I3L1N7|P14689|Q16616|Q3MIL0|Q6ISD2	Nonsense_Mutation	SNP	ENST00000380450.4	37	CCDS11117.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.755742	0.89843	.	.	ENSG00000129214	ENST00000340624;ENST00000441599;ENST00000416273;ENST00000441313;ENST00000452698;ENST00000380450	.	.	.	5.04	2.98	0.34508	.	0.392041	0.26112	N	0.026270	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.5936	8.3525	0.32310	0.0:0.755:0.1569:0.0881	.	.	.	.	X	18;76;76;76;76;76	.	ENSP00000345675:R18X	R	+	1	2	SHBG	7474745	0.795000	0.28851	0.009000	0.14445	0.979000	0.70002	2.218000	0.42889	0.493000	0.27837	0.561000	0.74099	CGA		0.502	SHBG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226957.2	NM_001040		T	7534020	C	T	7534020	4	4	740	1	0	0	0	0	0	1	0	0	14275	876	31	1	236	1	SHBG	17	7534020	Nonsense_Mutation	SNP	C	TCGA-KN-8434-01A-11D-2310-10	27785	7534020	73661190	49	43211											
TP53	7157	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	17	7578507	7578507	+	Missense_Mutation	SNP	G	G	C			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr17:7578507G>C	ENST00000269305.4	-	5	612	c.423C>G	c.(421-423)tgC>tgG	p.C141W	TP53_ENST00000359597.4_Missense_Mutation_p.C141W|TP53_ENST00000413465.2_Missense_Mutation_p.C141W|TP53_ENST00000445888.2_Missense_Mutation_p.C141W|TP53_ENST00000420246.2_Missense_Mutation_p.C141W|TP53_ENST00000455263.2_Missense_Mutation_p.C141W|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	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)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	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)	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)											57	56	56					17																	7578507		2203	4300	6503	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.423C>G	17.37:g.7578507G>C	ENSP00000269305:p.Cys141Trp		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	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		C	7578507	G	C	7578507	3	2	740	1	0	0	0	0	1	0	0	0	16386	1195	42	4	875	4	TP53	17	7578507	Missense_Mutation	SNP	G	TCGA-KN-8434-01A-11D-2310-10	44487	7578507	73616703	50	43212											
DNAH9	1770	ucsc.edu	37	17	11865498	11865498	+	Silent	SNP	A	A	G			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr17:11865498A>G	ENST00000262442.4	+	68	13226	c.13158A>G	c.(13156-13158)gaA>gaG	p.E4386E	DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000454412.2_Silent_p.E4310E|DNAH9_ENST00000608377.1_Silent_p.E698E|RP11-1096G20.5_ENST00000580270.1_RNA	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4386					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)		AGAACAGAGAAGAGTTTAGGA	0.542																																																0													76	77	77					17																	11865498		2203	4300	6503	SO:0001819	synonymous_variant	1770			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.13158A>G	17.37:g.11865498A>G			A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	CCDS11160.1																																																																																				0.542	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		G	11865498	A	G	11865498	2	3	740	1	0	0	0	0	0	0	0	1	4610	69	3	3		3	DNAH9	17	11865498	Silent	SNP	A	TCGA-KN-8434-01A-11D-2310-10	4286991	11865498	69329712	51	43213											
NLE1	54475	mdanderson.org	37	17	33469279	33469279	+	Missense_Mutation	SNP	G	G	C	rs1471615	byFrequency	TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr17:33469279G>C	ENST00000442241.4	-	1	55	c.16C>G	c.(16-18)Ccg>Gcg	p.P6A	NLE1_ENST00000360831.5_Missense_Mutation_p.P6A|NLE1_ENST00000593176.1_5'Flank|NLE1_ENST00000586869.1_5'UTR	NM_001014445.1|NM_018096.3	NP_001014445.1|NP_060566.2	Q9NVX2	NLE1_HUMAN	notchless homolog 1 (Drosophila)	6			P -> A (in dbSNP:rs1471615). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:19413330, ECO:0000269|PubMed:22223895, ECO:0000269|PubMed:22814378, ECO:0000269|Ref.5}.		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)				ACACCCACCGGCACTGCTGCC	0.756													C|||	4975	0.993411	0.9985	0.9957	5008	,	,		10691	1.0		0.9742	False		,,,				2504	0.998															0								C	,ALA/PRO	3575,19		1778,19,0	3	4	4		,16	3.4	0	17	dbSNP_88	4	7070,124		3473,124,0	no	utr-5,missense	NLE1	NM_001014445.1,NM_018096.3	,27	5251,143,0	CC,CG,GG		1.7237,0.5287,1.3255	,benign	,6/486	33469279	10645,143	1797	3597	5394	SO:0001583	missense	54475				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.16C>G	17.37:g.33469279G>C	ENSP00000413572:p.Pro6Ala		O60868|Q59GJ8|Q9BU54	Missense_Mutation	SNP	ENST00000442241.4	37	CCDS11291.1	2147	0.983058608058608	488	0.991869918699187	357	0.9861878453038674	572	1.0	730	0.9630606860158312	C	12.94	2.088081	0.36855	0.994713	0.982763	ENSG00000073536	ENST00000442241;ENST00000537697	T	0.55588	0.51	4.34	3.37	0.38596	.	.	.	.	.	T	0.00012	0.0000	N	0.11560	0.145	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.34153	-0.9840	8	0.18710	T	0.47	15.9119	5.5414	0.17039	0.0:0.6863:0.2052:0.1085	rs1471615;rs52800602;rs59359892;rs1471615	6	Q9NVX2	NLE1_HUMAN	A	6	ENSP00000413572:P6A	ENSP00000413572:P6A	P	-	1	0	NLE1	30493392	0.001000	0.12720	0.010000	0.14722	0.119000	0.20118	0.511000	0.22739	1.193000	0.43086	-0.187000	0.12897	CCG		0.756	NLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256441.2	NM_018096		C	33469279	G	C	33469279	3	2	740	1	0	0	0	0	1	0	0	0	10462	1203	42	4	1493	4	NLE1	17	33469279	Missense_Mutation	SNP	G	TCGA-KN-8434-01A-11D-2310-10	21603781	33469279	47725931	52	43214											
KRTAP4-11	653240	hgsc.bcm.edu	37	17	39274432	39274432	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr17:39274432C>T	ENST00000391413.2	-	1	174	c.136G>A	c.(136-138)Gtg>Atg	p.V46M		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	46	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14). {ECO:0000269|PubMed:15955084}.			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)			CAGCTGGACACACAGCAGCTG	0.677																																																0													14	18	17					17																	39274432		690	1591	2281	SO:0001583	missense	653240			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.136G>A	17.37:g.39274432C>T	ENSP00000375232:p.Val46Met		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	10.56	1.385842	0.25031	.	.	ENSG00000212721	ENST00000391413	T	0.01430	4.9	3.76	-6.69	0.01772	.	0.911881	0.08829	U	0.887602	T	0.03739	0.0106	M	0.84948	2.725	0.09310	N	1	P	0.40266	0.71	P	0.46585	0.521	T	0.02144	-1.1206	10	0.54805	T	0.06	.	8.7851	0.34816	0.0:0.3102:0.5247:0.1651	.	46	Q9BYQ6	KR411_HUMAN	M	46	ENSP00000375232:V46M	ENSP00000375232:V46M	V	-	1	0	KRTAP4-11	36527958	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-2.396000	0.01052	-0.895000	0.03920	-1.166000	0.01754	GTG		0.677	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			T	39274432	C	T	39274432	3	4	740	1	0	0	0	0	1	0	0	0	8551	478	17	2	455	2	KRTAP4-11	17	39274432	Missense_Mutation	SNP	C	TCGA-KN-8434-01A-11D-2310-10	5805153	39274432	41920778	53	43215											
LPIN2	9663	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	18	2937725	2937725	+	Missense_Mutation	SNP	G	G	A	rs146067222		TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr18:2937725G>A	ENST00000261596.4	-	7	1371	c.1133C>T	c.(1132-1134)cCg>cTg	p.P378L		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	378					cellular lipid metabolic process (GO:0044255)|dephosphorylation (GO:0016311)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)|transcription coactivator activity (GO:0003713)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		TTTAGCTGCCGGTTTGGATTC	0.453													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16946	0.0		0.0	False		,,,				2504	0.0															0								G	LEU/PRO	3,4403	6.2+/-15.9	0,3,2200	59	61	61		1133	5.7	0.9	18	dbSNP_134	61	1,8599	1.2+/-3.3	0,1,4299	yes	missense	LPIN2	NM_014646.2	98	0,4,6499	AA,AG,GG		0.0116,0.0681,0.0308	benign	378/897	2937725	4,13002	2203	4300	6503	SO:0001583	missense	9663			D87436	CCDS11829.1	18p	2014-09-17			ENSG00000101577	ENSG00000101577			14450	protein-coding gene	gene with protein product		605519				11138012, 9039502	Standard	NM_014646		Approved	KIAA0249	uc002klo.3	Q92539	OTTHUMG00000131508	ENST00000261596.4:c.1133C>T	18.37:g.2937725G>A	ENSP00000261596:p.Pro378Leu		A7MD25|D3DUH3	Missense_Mutation	SNP	ENST00000261596.4	37	CCDS11829.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.140207	0.37825	6.81E-4	1.16E-4	ENSG00000101577	ENST00000261596	T	0.80304	-1.36	5.74	5.74	0.90152	.	1.049380	0.07337	N	0.880142	D	0.83543	0.5277	M	0.78637	2.42	0.58432	D	0.999999	B	0.14438	0.01	B	0.08055	0.003	T	0.69146	-0.5222	10	0.29301	T	0.29	.	18.1163	0.89556	0.0:0.0:1.0:0.0	.	378	Q92539	LPIN2_HUMAN	L	378	ENSP00000261596:P378L	ENSP00000261596:P378L	P	-	2	0	LPIN2	2927725	1.000000	0.71417	0.910000	0.35882	0.895000	0.52256	4.088000	0.57678	2.715000	0.92844	0.655000	0.94253	CCG		0.453	LPIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254363.2	NM_014646		A	2937725	G	A	2937725	3	1	740	1	0	0	0	0	1	0	0	0	8921	1116	39	1	1613	1	LPIN2	18	2937725	Missense_Mutation	SNP	G	TCGA-KN-8434-01A-11D-2310-10		2937725	75139523	54	43216											
SBNO2	22904	hgsc.bcm.edu;mdanderson.org	37	19	1108866	1108866	+	Silent	SNP	G	G	A	rs374174588		TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr19:1108866G>A	ENST00000361757.3	-	31	3765	c.3528C>T	c.(3526-3528)ggC>ggT	p.G1176G	SBNO2_ENST00000438103.2_Silent_p.G1119G|SBNO2_ENST00000587024.1_Silent_p.G1166G	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	1176					bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGCGATGCGGCCCCACACGC	0.687																																																0									,	1,3983		0,1,1991	8	9	9		3357,3528	4.3	1	19		9	4,8284		0,4,4140	no	coding-synonymous,coding-synonymous	SBNO2	NM_001100122.1,NM_014963.2	,	0,5,6131	AA,AG,GG		0.0483,0.0251,0.0407	,	1119/1310,1176/1367	1108866	5,12267	1992	4144	6136	SO:0001819	synonymous_variant	22904			AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"KIAA0963"	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000361757.3:c.3528C>T	19.37:g.1108866G>A			A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Silent	SNP	ENST00000361757.3	37	CCDS45894.1																																																																																				0.687	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	NM_014963		A	1108866	G	A	1108866	2	1	740	1	0	0	0	0	0	0	0	1	13869	1190	42	2		2	SBNO2	19	1108866	Silent	SNP	G	TCGA-KN-8434-01A-11D-2310-10		1108866	58020117	55	43217											
DOT1L	84444	mdanderson.org	37	19	2226676	2226676	+	Missense_Mutation	SNP	G	G	A	rs3815308	byFrequency	TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr19:2226676G>A	ENST00000398665.3	+	27	4192	c.4156G>A	c.(4156-4158)Ggc>Agc	p.G1386S		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1386			G -> S (in dbSNP:rs3815308).		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)		GGGCAGCCGCGGCAAGGAGGC	0.726													G|||	1130	0.225639	0.0356	0.3069	5008	,	,		10935	0.1825		0.4692	False		,,,				2504	0.2188															0								G	SER/GLY	373,3611		37,299,1656	6	9	8		4156	0.4	0	19	dbSNP_107	8	3524,4624		845,1834,1395	no	missense	DOT1L	NM_032482.2	56	882,2133,3051	AA,AG,GG		43.2499,9.3624,32.1217	benign	1386/1538	2226676	3897,8235	1992	4074	6066	SO:0001583	missense	84444			AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases"	24948	protein-coding gene	gene with protein product	"histone methyltransferase DOT1L"	607375	"DOT1-like, histone H3 methyltransferase (S. cerevisiae)"			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.4156G>A	19.37:g.2226676G>A	ENSP00000381657:p.Gly1386Ser		O60379|Q96JL1	Missense_Mutation	SNP	ENST00000398665.3	37	CCDS42460.1	602	0.27564102564102566	19	0.03861788617886179	123	0.3397790055248619	113	0.19755244755244755	347	0.4577836411609499	G	0.015	-1.555274	0.00918	0.093624	0.432499	ENSG00000104885	ENST00000398665;ENST00000221482;ENST00000457590	T;T	0.28454	2.06;1.61	4.28	0.43	0.16515	.	0.858235	0.09817	N	0.751980	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	B;B	0.24533	0.105;0.012	B;B	0.12837	0.003;0.008	T	0.46303	-0.9201	9	0.87932	D	0	-4.2319	10.6441	0.45610	0.3992:0.0:0.6008:0.0	rs3815308;rs56900395	1386;1386	Q8TEK3;Q8TEK3-2	DOT1L_HUMAN;.	S	1386;1386;266	ENSP00000381657:G1386S;ENSP00000407411:G266S	ENSP00000221482:G1386S	G	+	1	0	DOT1L	2177676	0.363000	0.24989	0.007000	0.13788	0.002000	0.02628	1.858000	0.39408	-0.020000	0.14032	-1.134000	0.01955	GGC		0.726	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482		A	2226676	G	A	2226676	3	1	740	1	0	0	0	0	1	0	0	0	4711	1116	39	1	4262	1	DOT1L	19	2226676	Missense_Mutation	SNP	G	TCGA-KN-8434-01A-11D-2310-10	1117810	2226676	56902307	56	43218											
RAVER1	125950	mdanderson.org	37	19	10431799	10431799	+	Silent	SNP	G	G	T	rs281425	byFrequency	TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr19:10431799G>T	ENST00000293677.6	-	8	1530	c.1449C>A	c.(1447-1449)ccC>ccA	p.P483P	CTD-2369P2.12_ENST00000586529.1_5'Flank	NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	466						cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			CCACAGGGGCGGGGGGAGGAG	0.736													G|||	1073	0.214257	0.3086	0.1801	5008	,	,		12960	0.1012		0.2256	False		,,,				2504	0.2157															0								G		462,2062		41,380,841	2	2	2		1449	-7.2	0.3	19	dbSNP_79	2	1100,4946		110,880,2033	no	coding-synonymous	RAVER1	NM_133452.2		151,1260,2874	TT,TG,GG		18.1938,18.3043,18.2264		483/757	10431799	1562,7008	1262	3023	4285	SO:0001819	synonymous_variant	125950				CCDS45960.1	19p13.2	2013-02-12				ENSG00000161847		"RNA binding motif (RRM) containing"	30296	protein-coding gene	gene with protein product		609950				11853319, 11724819	Standard	NM_133452		Approved	KIAA1978	uc002moa.3	Q8IY67		ENST00000293677.6:c.1449C>A	19.37:g.10431799G>T			A6NMU4|Q8IY60|Q8TF24	Silent	SNP	ENST00000293677.6	37	CCDS45960.1																																																																																				0.736	RAVER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451227.1	NM_133452		T	10431799	G	T	10431799	2	4	740	1	0	0	0	0	0	0	0	1	13100	1103	39	4		4	RAVER1	19	10431799	Silent	SNP	G	TCGA-KN-8434-01A-11D-2310-10	8205123	10431799	48697184	57	43219											
CC2D1A	54862	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	14024412	14024412	+	Missense_Mutation	SNP	G	G	C			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr19:14024412G>C	ENST00000318003.7	+	6	950	c.709G>C	c.(709-711)Gcc>Ccc	p.A237P	CC2D1A_ENST00000589606.1_Missense_Mutation_p.A237P	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	237	Pro-rich.				positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|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 negative regulation of transcription (GO:0001078)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			CACCGCCCCAGCCTCATCTCC	0.672																																																0													21	25	24					19																	14024412		1936	4116	6052	SO:0001583	missense	54862			AF536205	CCDS42512.1	19p13.12	2007-01-08				ENSG00000132024			30237	protein-coding gene	gene with protein product	"mental retardation, nonsyndromic, autosomal recessive, 3"	610055				12761501, 16033914	Standard	NM_017721		Approved	FLJ20241, MRT3	uc002mxo.2	Q6P1N0		ENST00000318003.7:c.709G>C	19.37:g.14024412G>C	ENSP00000313601:p.Ala237Pro		Q7Z435|Q86XV0|Q8NF89|Q9H603|Q9NXI1	Missense_Mutation	SNP	ENST00000318003.7	37	CCDS42512.1	.	.	.	.	.	.	.	.	.	.	G	9.613	1.131834	0.21041	.	.	ENSG00000132024	ENST00000318003;ENST00000254346;ENST00000389233	T	0.21191	2.02	4.58	-1.52	0.08637	.	0.960608	0.08628	N	0.917415	T	0.14056	0.0340	L	0.40543	1.245	0.09310	N	1	P;B	0.40875	0.731;0.001	B;B	0.38616	0.277;0.003	T	0.24870	-1.0148	10	0.23891	T	0.37	-6.2937	4.6872	0.12764	0.3443:0.0:0.5119:0.1438	.	237;237	Q6P1N0-2;Q6P1N0	.;C2D1A_HUMAN	P	237;75;212	ENSP00000313601:A237P	ENSP00000254346:A75P	A	+	1	0	CC2D1A	13885412	0.000000	0.05858	0.000000	0.03702	0.084000	0.17831	-0.237000	0.08990	-0.243000	0.09653	0.462000	0.41574	GCC		0.672	CC2D1A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457954.1	NM_017721		C	14024412	G	C	14024412	3	2	740	1	0	0	0	0	1	0	0	0	2728	971	34	4	731	4	CC2D1A	19	14024412	Missense_Mutation	SNP	G	TCGA-KN-8434-01A-11D-2310-10	3592613	14024412	45104571	58	43220											
GLTSCR1	29998	mdanderson.org	37	19	48183114	48183114	+	Silent	SNP	A	A	G	rs2914438	byFrequency	TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr19:48183114A>G	ENST00000396720.3	+	6	881	c.687A>G	c.(685-687)acA>acG	p.T229T	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	229										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)		CGGCGGCCACACTGGGCCTGG	0.711													G|||	4089	0.816494	0.798	0.7954	5008	,	,		11827	0.9593		0.7227	False		,,,				2504	0.8057															0								G		2219,413		932,355,29	3	4	4		687	-9.6	0	19	dbSNP_101	4	4284,1130		1704,876,127	no	coding-synonymous	GLTSCR1	NM_015711.3		2636,1231,156	GG,GA,AA		20.8718,15.6915,19.1772		229/1561	48183114	6503,1543	1316	2707	4023	SO:0001819	synonymous_variant	29998			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.687A>G	19.37:g.48183114A>G			A8MW01	Silent	SNP	ENST00000396720.3	37	CCDS46134.1																																																																																				0.711	GLTSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465846.1	NM_015711		G	48183114	A	G	48183114	2	3	740	1	0	0	0	0	0	0	0	1	6476	146	6	3		3	GLTSCR1	19	48183114	Silent	SNP	A	TCGA-KN-8434-01A-11D-2310-10	34158702	48183114	10945869	59	43221											
RBCK1	10616	broad.mit.edu	37	20	400073	400074	+	Frame_Shift_Ins	INS	-	-	G	rs377036635		TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr20:400073_400074insG	ENST00000356286.5	+	5	1248_1249	c.543_544insG	c.(544-546)ggafs	p.G182fs	RBCK1_ENST00000353660.3_Frame_Shift_Ins_p.G140fs|RBCK1_ENST00000382181.2_Frame_Shift_Ins_p.D66fs	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing 1	182	Interaction with IRF3.|Interaction with TAB2.				negative regulation of necroptotic process (GO:0060546)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|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 NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				CCCAGGAACCCGGACGGGGGCA	0.668																																																0																																										SO:0001589	frameshift_variant	10616			U67322	CCDS12998.1, CCDS13000.2	20p13	2014-09-17	2006-06-28	2006-06-28	ENSG00000125826	ENSG00000125826		"RING-type (C3HC4) zinc fingers", "Zinc fingers, RAN-binding domain containing"	15864	protein-coding gene	gene with protein product	"heme-oxidized IRP2 ubiquitin ligase 1"	610924	"chromosome 20 open reading frame 18"	C20orf18			Standard	NM_031229		Approved	RBCK2, XAP4, RNF54, ZRANB4, UBCE7IP3, HOIL1	uc002wdp.4	Q9BYM8	OTTHUMG00000031634	ENST00000356286.5:c.545dupG	20.37:g.400075_400075dupG	ENSP00000348632:p.Gly182fs		O95623|Q86SL2|Q96BS3|Q9BYM9	Frame_Shift_Ins	INS	ENST00000356286.5	37	CCDS13000.2																																																																																				0.668	RBCK1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077461.3	NM_031229		G	400074	-	G	400073	7	5	740	1	0	1	1	0	0	0	0	0	13113	639	23	0	580	0	RBCK1	20	400073	Frame_Shift_Ins	INS	-	TCGA-KN-8434-01A-11D-2310-10		400073	62625447	60	43222											
RIPK4	54101	ucsc.edu	37	21	43187089	43187089	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr21:43187089T>C	ENST00000352483.2	-	1	177	c.113A>G	c.(112-114)aAg>aGg	p.K38R	RIPK4_ENST00000332512.3_Missense_Mutation_p.K38R|RIPK4_ENST00000544709.1_5'Flank|RIPK4_ENST00000542057.1_5'Flank			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	38	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ATGGCGCACCTTGTACACCTG	0.726																																																0													34	30	32					21																	43187089		2201	4299	6500	SO:0001583	missense	54101			AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"Ankyrin repeat domain containing"	496	protein-coding gene	gene with protein product	"protein kinase C-associated kinase", "PKC-delta-interacting protein kinase"	605706	"ankyrin repeat domain 3"	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.113A>G	21.37:g.43187089T>C	ENSP00000330161:p.Lys38Arg		Q96KH0	Missense_Mutation	SNP	ENST00000352483.2	37		.	.	.	.	.	.	.	.	.	.	T	18.63	3.666244	0.67814	.	.	ENSG00000183421	ENST00000332512;ENST00000352483	T;T	0.70164	-0.46;-0.46	3.5	3.5	0.40072	.	0.000000	0.56097	U	0.000027	T	0.68302	0.2986	N	0.21324	0.655	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.68884	-0.5291	10	0.48119	T	0.1	-27.0112	11.2166	0.48830	0.0:0.0:0.0:1.0	.	38	P57078-2	.	R	38	ENSP00000332454:K38R;ENSP00000330161:K38R	ENSP00000332454:K38R	K	-	2	0	RIPK4	42060158	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	6.694000	0.74587	1.231000	0.43661	0.254000	0.18369	AAG		0.726	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639		C	43187089	T	C	43187089	3	2	740	1	0	0	0	0	1	0	0	0	13389	1609	56	3	2273	3	RIPK4	21	43187089	Missense_Mutation	SNP	T	TCGA-KN-8434-01A-11D-2310-10		43187089	4942806	61	43223											
MN1	4330	broad.mit.edu	37	22	28193289	28193289	+	Silent	SNP	C	C	T			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr22:28193289C>T	ENST00000302326.4	-	1	4197	c.3243G>A	c.(3241-3243)tcG>tcA	p.S1081S		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	1081					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						GGAGTTTGGGCGAGCCGGTCA	0.662			T	ETV6	"AML, meningioma"																																		Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"L, O"	0													20	23	22					22																	28193289		1957	4130	6087	SO:0001819	synonymous_variant	4330			X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"probable tumor suppressor protein MN1"	156100	"meningioma chromosome region"	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.3243G>A	22.37:g.28193289C>T			A9Z1V9	Silent	SNP	ENST00000302326.4	37	CCDS42998.1																																																																																				0.662	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		T	28193289	C	T	28193289	2	4	740	1	0	0	0	0	0	0	0	1	9675	755	27	1		1	MN1	22	28193289	Silent	SNP	C	TCGA-KN-8434-01A-11D-2310-10		28193289	23111277	62	43224											
RHBDD3	25807	broad.mit.edu	37	22	29661514	29661515	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr22:29661514_29661515insC	ENST00000216085.7	-	3	525_526	c.101_102insG	c.(100-102)ggcfs	p.G34fs	EWSR1_ENST00000331029.7_5'Flank|EWSR1_ENST00000332035.6_5'Flank|EWSR1_ENST00000414183.2_5'Flank|EWSR1_ENST00000406548.1_5'Flank|EWSR1_ENST00000333395.6_5'Flank|EWSR1_ENST00000332050.6_5'Flank|EWSR1_ENST00000397938.2_5'Flank	NM_012265.1	NP_036397.1	Q9Y3P4	RHBD3_HUMAN	rhomboid domain containing 3	34					liver development (GO:0001889)|MAPK cascade (GO:0000165)|negative regulation of natural killer cell activation (GO:0032815)|positive regulation of protein catabolic process (GO:0045732)|regulation of acute inflammatory response (GO:0002673)|regulation of protein secretion (GO:0050708)|response to xenobiotic stimulus (GO:0009410)	integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			lung(1)|ovary(1)	2						CCAGGCCGGGGCCGGCCCCCAC	0.683																																																0																																										SO:0001589	frameshift_variant	25807			AL050346	CCDS13850.1	22q12.2	2006-02-22	2006-02-22	2006-02-22	ENSG00000100263	ENSG00000100263			1308	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 3"	C22orf3		10591208, 15105437	Standard	NM_012265		Approved	PTAG	uc003aeq.1	Q9Y3P4	OTTHUMG00000151032	ENST00000216085.7:c.102dupG	22.37:g.29661516_29661516dupC	ENSP00000216085:p.Gly34fs		Q6I9X3|Q9UGQ7	Frame_Shift_Ins	INS	ENST00000216085.7	37	CCDS13850.1																																																																																				0.683	RHBDD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321085.1	NM_012265		C	29661515	-	C	29661514	7	5	740	1	0	1	1	0	0	0	0	0	13324	1190	42	0	1078	0	RHBDD3	22	29661514	Frame_Shift_Ins	INS	-	TCGA-KN-8434-01A-11D-2310-10	1468225	29661514	21643052	63	43225											
DMD	1756	broad.mit.edu	37	X	31645807	31645807	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chrX:31645807G>T	ENST00000357033.4	-	55	8406	c.8200C>A	c.(8200-8202)Ctg>Atg	p.L2734M	DMD_ENST00000541735.1_Missense_Mutation_p.L274M|DMD_ENST00000359836.1_Missense_Mutation_p.L274M|DMD_ENST00000378677.2_Missense_Mutation_p.L2730M|DMD_ENST00000474231.1_Missense_Mutation_p.L274M|DMD_ENST00000343523.2_Missense_Mutation_p.L274M|DMD_ENST00000378707.3_Missense_Mutation_p.L274M	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	2734					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)				TGTTTCATCAGCTCTTTTACT	0.448																																																0													102	87	92					X																	31645807		2202	4300	6502	SO:0001583	missense	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.8200C>A	X.37:g.31645807G>T	ENSP00000354923:p.Leu2734Met		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	CCDS14233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.24|16.24	3.066465|3.066465	0.55539|0.55539	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000465285|ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000474231	.|T;T;T;T;T;T;T;T	.|0.61392	.|0.11;0.11;0.11;0.11;0.11;0.11;0.11;0.11	5.81|5.81	4.95|4.95	0.65309|0.65309	.|.	.|0.000000	.|0.30547	.|U	.|0.009394	T|T	0.76004|0.76004	0.3927|0.3927	M|M	0.77820|0.77820	2.39|2.39	0.41503|0.41503	D|D	0.988296|0.988296	.|P;P;P;D;D;P;D;D;D;D	.|0.89917	.|0.826;0.946;0.946;1.0;1.0;0.753;0.999;0.999;1.0;1.0	.|B;P;P;D;D;B;D;D;D;D	.|0.91635	.|0.43;0.864;0.864;0.999;0.999;0.406;0.992;0.986;0.999;0.998	T|T	0.76523|0.76523	-0.2928|-0.2928	5|10	.|0.35671	.|T	.|0.21	.|.	16.1681|16.1681	0.81785|0.81785	0.0:0.1296:0.8703:0.0|0.0:0.1296:0.8703:0.0	.|.	.|2726;2734;2730;1393;1390;274;274;274;274;274	.|P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3	.|.;DMD_HUMAN;.;.;.;.;.;.;.;.	D|M	462|2726;1393;1390;430;2730;2734;274;274;2734;2611;274;274;274	.|ENSP00000350765:L430M;ENSP00000367948:L2730M;ENSP00000354923:L2734M;ENSP00000352894:L274M;ENSP00000340057:L274M;ENSP00000367979:L274M;ENSP00000444119:L274M;ENSP00000417123:L274M	.|ENSP00000340057:L274M	A|L	-|-	2|1	0|2	DMD|DMD	31555728|31555728	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	1.728000|1.728000	0.38105|0.38105	1.220000|1.220000	0.43490|0.43490	0.508000|0.508000	0.49915|0.49915	GCT|CTG		0.448	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		T	31645807	G	T	31645807	3	4	740	1	0	0	0	0	1	0	0	0	4582	962	34	4	3105	4	DMD	23	31645807	Missense_Mutation	SNP	G	TCGA-KN-8434-01A-11D-2310-10		31645807	123624753	64	43226											
TBC1D25	4943	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	X	48418349	48418349	+	Silent	SNP	C	C	A			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chrX:48418349C>A	ENST00000376771.4	+	6	1394	c.1053C>A	c.(1051-1053)gcC>gcA	p.A351A	snoU13_ENST00000459609.1_RNA|TBC1D25_ENST00000537536.1_Silent_p.A97A	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	351	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				autophagy (GO:0006914)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of autophagic vacuole maturation (GO:1901096)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						AGGGCCATGCCTTTGTTTGCT	0.582																																																0													48	32	38					X																	48418349		2203	4300	6503	SO:0001819	synonymous_variant	4943			L08240	CCDS35242.1	Xp11.23	2014-01-28	2007-01-12	2007-01-12	ENSG00000068354	ENSG00000068354			8092	protein-coding gene	gene with protein product		311240	"ornithine aminotransferase-like 1"	OATL1		21383079	Standard	NM_002536		Approved		uc004dka.1	Q3MII6	OTTHUMG00000024123	ENST00000376771.4:c.1053C>A	X.37:g.48418349C>A			Q08AN9|Q3MII4|Q8TAR9	Silent	SNP	ENST00000376771.4	37	CCDS35242.1																																																																																				0.582	TBC1D25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060764.2	NM_002536		A	48418349	C	A	48418349	2	1	740	1	0	0	0	0	0	0	0	1	15620	668	24	4		4	TBC1D25	23	48418349	Silent	SNP	C	TCGA-KN-8434-01A-11D-2310-10	16772542	48418349	106852211	65	43227											
GATA1	2623	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	X	48652278	48652278	+	Missense_Mutation	SNP	C	C	G			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chrX:48652278C>G	ENST00000376670.3	+	6	1060	c.949C>G	c.(949-951)Cgg>Ggg	p.R317G	GATA1_ENST00000376665.3_Intron	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	317					basophil differentiation (GO:0030221)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cellular response to thyroid hormone stimulus (GO:0097067)|dendritic cell differentiation (GO:0097028)|embryonic hemopoiesis (GO:0035162)|eosinophil differentiation (GO:0030222)|eosinophil fate commitment (GO:0035854)|erythrocyte development (GO:0048821)|erythrocyte differentiation (GO:0030218)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|megakaryocyte differentiation (GO:0030219)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of definitive erythrocyte differentiation (GO:0010724)|regulation of glycoprotein biosynthetic process (GO:0010559)|transcription from RNA polymerase II promoter (GO:0006366)|transcriptional activation by promoter-enhancer looping (GO:0071733)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	C2H2 zinc finger domain binding (GO:0070742)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer sequence-specific DNA binding (GO:0001158)|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 regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						GAAAAAGAAACGGGGCTCCAG	0.602			"Mis, F"		megakaryoblastic leukemia of Downs Syndrome																																Pancreas(9;429 505 11287 29617)		Dom	yes		X	Xp11.23	2623	GATA binding protein 1 (globin transcription factor 1)		L	0													34	31	32					X																	48652278		2203	4300	6503	SO:0001583	missense	2623			X17254	CCDS14305.1	Xp11.23	2014-09-17	2001-11-28		ENSG00000102145	ENSG00000102145		"GATA zinc finger domain containing"	4170	protein-coding gene	gene with protein product	"nuclear factor, erythroid 1"	305371	"GATA-binding protein 1 (globin transcription factor 1)"	GF1		1999341	Standard	NM_002049		Approved	ERYF1, NFE1, GATA-1, NF-E1	uc004dkq.4	P15976	OTTHUMG00000021504	ENST00000376670.3:c.949C>G	X.37:g.48652278C>G	ENSP00000365858:p.Arg317Gly		Q96GB8	Missense_Mutation	SNP	ENST00000376670.3	37	CCDS14305.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	9.621|9.621	1.133764|1.133764	0.21123|0.21123	.|.	.|.	ENSG00000102145|ENSG00000102145	ENST00000447551|ENST00000376670	.|D	.|0.97620	.|-4.46	3.08|3.08	1.12|1.12	0.20585|0.20585	.|.	.|0.150111	.|0.42420	.|U	.|0.000713	D|D	0.91112|0.91112	0.7202|0.7202	N|N	0.20685|0.20685	0.6|0.6	0.09310|0.09310	N|N	1|1	.|B	.|0.14012	.|0.009	.|B	.|0.12156	.|0.007	T|T	0.82426|0.82426	-0.0463|-0.0463	5|10	.|0.34782	.|T	.|0.22	-2.7506|-2.7506	6.8314|6.8314	0.23913|0.23913	0.5023:0.4977:0.0:0.0|0.5023:0.4977:0.0:0.0	.|.	.|317	.|P15976	.|GATA1_HUMAN	K|G	81|317	.|ENSP00000365858:R317G	.|ENSP00000365858:R317G	N|R	+|+	3|1	2|2	GATA1|GATA1	48537222|48537222	0.956000|0.956000	0.32656|0.32656	0.059000|0.059000	0.19551|0.19551	0.776000|0.776000	0.43924|0.43924	-0.001000|-0.001000	0.12947|0.12947	0.159000|0.159000	0.19401|0.19401	0.365000|0.365000	0.22127|0.22127	AAC|CGG		0.602	GATA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056517.1	NM_002049		G	48652278	C	G	48652278	3	3	740	1	0	0	0	0	1	0	0	0	6255	527	19	4	967	4	GATA1	23	48652278	Missense_Mutation	SNP	C	TCGA-KN-8434-01A-11D-2310-10	233929	48652278	106618282	66	43228											
IGSF1	3547	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	X	130409464	130409464	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chrX:130409464G>A	ENST00000361420.3	-	16	3251	c.3172C>T	c.(3172-3174)Ctc>Ttc	p.L1058F	IGSF1_ENST00000370910.1_Missense_Mutation_p.L1049F|IGSF1_ENST00000370904.1_Missense_Mutation_p.L1049F|IGSF1_ENST00000370903.3_Missense_Mutation_p.L1063F|IGSF1_ENST00000467244.1_5'Flank			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1058	Ig-like C2-type 10.				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						GTGACTAGGAGTTCCAGGGTG	0.493																																																0													142	122	129					X																	130409464		2203	4300	6503	SO:0001583	missense	3547			AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.3172C>T	X.37:g.130409464G>A	ENSP00000355010:p.Leu1058Phe		B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	G	15.95	2.984986	0.53934	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.01745	4.66;4.66;4.66;4.66	5.32	5.32	0.75619	Immunoglobulin-like fold (1);	0.107595	0.42172	D	0.000759	T	0.13798	0.0334	M	0.90922	3.16	0.30618	N	0.758828	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.87578	0.996;0.998;0.996	T	0.02813	-1.1107	10	0.72032	D	0.01	.	13.7707	0.63023	0.0:0.0:1.0:0.0	.	1049;502;1058	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	F	1049;1058;1049;1063	ENSP00000359947:L1049F;ENSP00000355010:L1058F;ENSP00000359941:L1049F;ENSP00000359940:L1063F	ENSP00000355010:L1058F	L	-	1	0	IGSF1	130237145	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	4.727000	0.61993	2.562000	0.86427	0.600000	0.82982	CTC		0.493	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			A	130409464	G	A	130409464	3	1	740	1	0	0	0	0	1	0	0	0	7598	1029	36	2	858	2	IGSF1	23	130409464	Missense_Mutation	SNP	G	TCGA-KN-8434-01A-11D-2310-10	81757186	130409464	24861096	67	43229											
ZBTB48	3104	ucsc.edu;bcgsc.ca	37	1	6641321	6641321	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr1:6641321G>T	ENST00000377674.4	+	2	810	c.652G>T	c.(652-654)Gag>Tag	p.E218*		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	218					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)		AAGGCCCTTAGAGGCTGAAGG	0.572																																					Esophageal Squamous(125;1449 1657 4031 29866 49542)											0													26	28	27					1																	6641321		2203	4298	6501	SO:0001587	stop_gained	3104			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.652G>T	1.37:g.6641321G>T	ENSP00000366902:p.Glu218*		Q5SY19	Nonsense_Mutation	SNP	ENST00000377674.4	37	CCDS84.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.586826	0.86851	.	.	ENSG00000204859	ENST00000319084;ENST00000435905;ENST00000377674	.	.	.	5.74	3.54	0.40534	.	0.441142	0.25247	N	0.032043	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-23.3543	8.1099	0.30909	0.0952:0.1648:0.74:0.0	.	.	.	.	X	218	.	ENSP00000313416:E218X	E	+	1	0	ZBTB48	6563908	0.123000	0.22298	0.922000	0.36590	0.540000	0.34992	0.465000	0.22004	1.423000	0.47198	-0.150000	0.13652	GAG		0.572	ZBTB48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004193.1	NM_005341		T	6641321	G	T	6641321	4	4	741	1	0	0	0	0	0	1	0	0	17554	943	33	4	654	4	ZBTB48	1	6641321	Nonsense_Mutation	SNP	G	TCGA-KN-8435-01A-11D-2310-10		6641321	242609300	1	43230											
PRAMEF7	441871	mdanderson.org	37	1	12980074	12980074	+	Silent	SNP	T	T	A	rs139206769		TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr1:12980074T>A	ENST00000361079.2	+	4	1349	c.1266T>A	c.(1264-1266)ggT>ggA	p.G422G	RNU6-1072P_ENST00000384703.1_RNA			Q5VXH5	PRAM7_HUMAN	PRAME family member 7	422					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)					endometrium(2)|kidney(5)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	18	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)		ACACCCAGGGTGCTCTCTGCT	0.587																																																0													36	39	38					1																	12980074		1261	2762	4023	SO:0001819	synonymous_variant	441871				CCDS30593.1	1p36.21	2013-01-17			ENSG00000204510	ENSG00000204510		"-"	28415	protein-coding gene	gene with protein product							Standard	NM_001012277		Approved			Q5VXH5	OTTHUMG00000001982	ENST00000361079.2:c.1266T>A	1.37:g.12980074T>A			B9EIP0	Silent	SNP	ENST00000361079.2	37	CCDS30593.1																																																																																				0.587	PRAMEF7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001012277		A	12980074	T	A	12980074	2	1	741	1	0	0	0	0	0	0	0	1	12444	1683	59	5		5	PRAMEF7	1	12980074	Silent	SNP	T	TCGA-KN-8435-01A-11D-2310-10	6338753	12980074	236270547	2	43231											
MED8	112950	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	1	43852260	43852260	+	Splice_Site	SNP	C	C	T			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr1:43852260C>T	ENST00000372457.4	-	5	536	c.493G>A	c.(493-495)Ggt>Agt	p.G165S	MED8_ENST00000290663.6_Splice_Site_p.G165S|RP1-92O14.6_ENST00000436713.1_RNA|MED8_ENST00000372455.4_Splice_Site_p.G76S	NM_001001653.2|NM_201542.3	NP_001001653.1|NP_963836.2	Q96G25	MED8_HUMAN	mediator complex subunit 8	165					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)				CCCATCATACCTCCACTCTCT	0.423																																																0													178	156	164					1																	43852260		2203	4300	6503	SO:0001630	splice_region_variant	112950			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.493+1G>A	1.37:g.43852260C>T			A9IZ91|A9IZ92|Q5JUY8|Q96FQ4	Missense_Mutation	SNP	ENST00000372457.4	37	CCDS487.2	.	.	.	.	.	.	.	.	.	.	C	5.816	0.334799	0.11013	.	.	ENSG00000159479	ENST00000290663;ENST00000372457;ENST00000372455	.	.	.	5.89	4.97	0.65823	.	0.204896	0.50627	D	0.000103	T	0.24392	0.0591	N	0.02539	-0.55	0.47819	D	0.999526	B;B	0.26081	0.022;0.141	B;B	0.22753	0.018;0.041	T	0.11299	-1.0593	8	.	.	.	-13.9899	10.4361	0.44437	0.0:0.7956:0.1352:0.0692	.	165;165	Q96G25;Q96G25-2	MED8_HUMAN;.	S	165;165;76	.	.	G	-	1	0	MED8	43624847	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	4.270000	0.58896	1.495000	0.48549	0.555000	0.69702	GGT		0.423	MED8-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318959.1	NM_052877	Missense_Mutation	T	43852260	C	T	43852260	5	4	741	1	0	0	0	0	0	0	1	0	9455	695	24	2	432	2	MED8	1	43852260	Splice_Site	SNP	C	TCGA-KN-8435-01A-11D-2310-10	30872186	43852260	205398361	3	43232											
KIAA0467	23334	bcgsc.ca	37	1	43908707	43908707	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr1:43908707T>C	ENST00000562955.1	+	58	8198	c.8198T>C	c.(8197-8199)gTc>gCc	p.V2733A	SZT2_ENST00000372442.1_Missense_Mutation_p.V1891A	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2790					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						CCTGATCCTGTCACCTACCAT	0.592																																																0													58	59	59					1																	43908707		2203	4300	6503	SO:0001583	missense	23334			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.8198T>C	1.37:g.43908707T>C	ENSP00000457168:p.Val2733Ala		A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	T	18.16	3.562597	0.65538	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.67	5.67	0.87782	.	0.065649	0.64402	D	0.000011	T	0.44074	0.1276	L	0.48642	1.525	0.32201	N	0.577808	P	0.43231	0.801	B	0.39805	0.31	T	0.61412	-0.7068	9	0.72032	D	0.01	.	14.4754	0.67541	0.0:0.0:0.0:1.0	.	2733	Q5T011-5	.	A	1891	.	ENSP00000361519:V1891A	V	+	2	0	SZT2	43681294	1.000000	0.71417	0.997000	0.53966	0.977000	0.68977	7.423000	0.80229	2.169000	0.68431	0.459000	0.35465	GTC		0.592	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		C	43908707	T	C	43908707	3	2	741	1	0	0	0	0	1	0	0	0	8180	1667	58	3	5838	3	KIAA0467	1	43908707	Missense_Mutation	SNP	T	TCGA-KN-8435-01A-11D-2310-10	56447	43908707	205341914	4	43233											
COL11A1	1301	ucsc.edu	37	1	103453264	103453264	+	Silent	SNP	T	T	C			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr1:103453264T>C	ENST00000370096.3	-	30	2739	c.2427A>G	c.(2425-2427)gaA>gaG	p.E809E	COL11A1_ENST00000512756.1_Silent_p.E693E|COL11A1_ENST00000353414.4_Silent_p.E770E|COL11A1_ENST00000358392.2_Silent_p.E821E	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	809	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CAGGGCCATCTTCCCCTCTTG	0.453																																																0													89	85	86					1																	103453264		2203	4300	6503	SO:0001819	synonymous_variant	1301			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.2427A>G	1.37:g.103453264T>C			B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Silent	SNP	ENST00000370096.3	37	CCDS778.1	.	.	.	.	.	.	.	.	.	.	T	5.986	0.365772	0.11352	.	.	ENSG00000060718	ENST00000370090	.	.	.	4.4	0.842	0.18927	.	.	.	.	.	T	0.41213	0.1149	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.30090	-0.9990	5	0.31617	T	0.26	.	8.997	0.36059	0.0:0.2321:0.0:0.7679	.	.	.	.	R	24	.	ENSP00000359108:K24R	K	-	2	0	COL11A1	103225852	1.000000	0.71417	1.000000	0.80357	0.623000	0.37688	1.409000	0.34680	0.303000	0.22785	0.383000	0.25322	AAG		0.453	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		C	103453264	T	C	103453264	2	2	741	1	0	0	0	0	0	0	0	1	3669	1606	56	3		3	COL11A1	1	103453264	Silent	SNP	T	TCGA-KN-8435-01A-11D-2310-10	59544557	103453264	145797357	5	43234											
RBM15	64783	broad.mit.edu;hgsc.bcm.edu	37	1	110882695	110882713	+	Frame_Shift_Del	DEL	GGCGGCCAGAGGACGCGCG	GGCGGCCAGAGGACGCGCG	-			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	GGCGGCCAGAGGACGCGCG	GGCGGCCAGAGGACGCGCG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr1:110882695_110882713delGGCGGCCAGAGGACGCGCG	ENST00000369784.3	+	1	1568_1586	c.668_686delGGCGGCCAGAGGACGCGCG	c.(667-687)cggcggccagaggacgcgcggfs	p.RRPEDAR223fs	RP5-1074L1.1_ENST00000449169.1_RNA|RBM15_ENST00000487146.2_Frame_Shift_Del_p.RRPEDAR223fs|RBM15_ENST00000602849.1_Frame_Shift_Del_p.RRPEDAR223fs	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	223	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		GTGAACTTCCGGCGGCCAGAGGACGCGCGGGCGGCCAAG	0.594			T	MKL1	acute megakaryocytic leukemia						OREG0013656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											Dom	yes		1	1p13	64783	RNA binding motif protein 15		L	0																																										SO:0001589	frameshift_variant	64783			AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"RNA binding motif (RRM) containing"	14959	protein-coding gene	gene with protein product	"one twenty-two"	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.668_686delGGCGGCCAGAGGACGCGCG	1.37:g.110882695_110882713delGGCGGCCAGAGGACGCGCG	ENSP00000358799:p.Arg223fs	1430	A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Frame_Shift_Del	DEL	ENST00000369784.3	37	CCDS822.1																																																																																				0.594	RBM15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000031114.2	NM_022768		-	110882713	GGCGGCCAGAGGACGCGCG	-	110882695	7	5	741	1	0	1	0	1	0	0	0	0	13122	1116	39	0	670	0	RBM15	1	110882695	Frame_Shift_Del	DEL	GGCGGCCAGAGGACGCGCG	TCGA-KN-8435-01A-11D-2310-10	7429431	110882695	138367926	6	43235	415	2									
RBM15	64783	bcgsc.ca	37	1	110882696	110882714	+	Frame_Shift_Del	DEL	GGCGGCCAGAGGACGCGCG	GGCGGCCAGAGGACGCGCG	-			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	GGCGGCCAGAGGACGCGCG	GGCGGCCAGAGGACGCGCG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr1:110882696_110882714delGGCGGCCAGAGGACGCGCG	ENST00000369784.3	+	1	1569_1587	c.669_687delGGCGGCCAGAGGACGCGCG	c.(667-687)cgggcggccagaggacgcgcgfs	p.RAARGRA223fs	RP5-1074L1.1_ENST00000449169.1_RNA|RBM15_ENST00000487146.2_Frame_Shift_Del_p.RAARGRA223fs|RBM15_ENST00000602849.1_Frame_Shift_Del_p.RAARGRA223fs	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	223	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		TGAACTTCCGGCGGCCAGAGGACGCGCGGGCGGCCAAGC	0.589			T	MKL1	acute megakaryocytic leukemia						OREG0013656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											Dom	yes		1	1p13	64783	RNA binding motif protein 15		L	0																																										SO:0001589	frameshift_variant	64783			AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"RNA binding motif (RRM) containing"	14959	protein-coding gene	gene with protein product	"one twenty-two"	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.669_687delGGCGGCCAGAGGACGCGCG	1.37:g.110882696_110882714delGGCGGCCAGAGGACGCGCG	ENSP00000358799:p.Arg223fs	1430	A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Frame_Shift_Del	DEL	ENST00000369784.3	37	CCDS822.1																																																																																				0.589	RBM15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000031114.2	NM_022768		-	110882714	GGCGGCCAGAGGACGCGCG	-	110882696	7	5	741	1	0	1	0	1	0	0	0	0	13122	1190	42	0	671	0	RBM15	1	110882696	Frame_Shift_Del	DEL	GGCGGCCAGAGGACGCGCG	TCGA-KN-8435-01A-11D-2310-10	1	110882696	138367925	7	43236	415	2									
FCRLA	84824	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	1	161677131	161677131	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr1:161677131T>C	ENST00000236938.6	+	1	370	c.128T>C	c.(127-129)cTg>cCg	p.L43P	FCRLA_ENST00000367957.2_Missense_Mutation_p.L43P|FCRLA_ENST00000367953.3_Missense_Mutation_p.L26P|FCRLA_ENST00000367949.2_Missense_Mutation_p.L43P|FCRLA_ENST00000540926.1_Missense_Mutation_p.L26P|FCRLA_ENST00000367950.1_Missense_Mutation_p.L3P|FCRLA_ENST00000309691.6_Missense_Mutation_p.L26P|FCRLA_ENST00000294796.4_Missense_Mutation_p.L26P|FCRLA_ENST00000367959.2_Missense_Mutation_p.L43P|FCRLA_ENST00000350710.3_Missense_Mutation_p.L43P|FCRLA_ENST00000540521.1_Missense_Mutation_p.L43P|FCRLA_ENST00000349527.4_Missense_Mutation_p.L26P|FCRLA_ENST00000546024.1_Missense_Mutation_p.L43P	NM_032738.3	NP_116127.3	Q7L513	FCRLA_HUMAN	Fc receptor-like A	26					cell differentiation (GO:0030154)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			CAGATGCTACTGGGTAAGTAA	0.507																																																0													95	86	89					1																	161677131		2203	4300	6503	SO:0001583	missense	84824			AF531423	CCDS30926.1, CCDS53415.1, CCDS53416.1, CCDS53417.1, CCDS53418.1, CCDS53419.1, CCDS53420.1	1q23.3	2014-01-28	2006-09-26	2006-09-26	ENSG00000132185	ENSG00000132185		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18504	protein-coding gene	gene with protein product		606891	"Fc receptor-like and mucin-like 1"	FCRLM1		11754007	Standard	NM_001184866		Approved	MGC4595, FCRLc2, FCRLb, FCRLc1, FCRLd, FCRLe, FCRL, FCRLa, FREB, FCRLX	uc001gbe.3	Q7L513	OTTHUMG00000034537	ENST00000236938.6:c.128T>C	1.37:g.161677131T>C	ENSP00000236938:p.Leu43Pro		A0N0M1|A6NC03|A6NL20|F5H720|F8W743|G3V1J2|Q5VXA1|Q5VXA2|Q5VXA3|Q5VXA4|Q5VXB0|Q5VXB1|Q8NEW4|Q8WXH3|Q96PC6|Q96PJ0|Q96PJ1|Q96PJ2|Q96PJ4|Q9BR57	Missense_Mutation	SNP	ENST00000236938.6	37	CCDS30926.1	.	.	.	.	.	.	.	.	.	.	T	10.17	1.277899	0.23307	.	.	ENSG00000132185	ENST00000236938;ENST00000367959;ENST00000546024;ENST00000540521;ENST00000367949;ENST00000350710;ENST00000540926;ENST00000367957;ENST00000349527;ENST00000309691;ENST00000294796;ENST00000367953;ENST00000367950	T;T;T;T;T;T;T;T;T;T;T;T;T	0.56776	5.52;5.31;4.43;4.29;0.61;0.8;5.04;4.3;3.68;4.47;4.31;5.36;0.44	5.08	1.56	0.23342	.	0.398608	0.18668	N	0.134528	T	0.26846	0.0657	L	0.59436	1.845	0.23533	N	0.997473	B;B;B;P;B;B;B	0.40794	0.087;0.087;0.202;0.729;0.033;0.125;0.197	B;B;B;B;B;B;B	0.38880	0.063;0.063;0.12;0.284;0.027;0.028;0.119	T	0.10222	-1.0639	10	0.87932	D	0	.	6.5753	0.22562	0.0:0.2731:0.0:0.7269	.	43;43;43;43;43;43;43	F8W743;A6NL20;F5H720;Q5VXB1;G3V1J2;A6NC03;Q7L513-9	.;.;.;.;.;.;.	P	43;43;43;43;43;43;26;43;26;26;26;26;3	ENSP00000236938:L43P;ENSP00000356936:L43P;ENSP00000439838:L43P;ENSP00000442870:L43P;ENSP00000356926:L43P;ENSP00000344808:L43P;ENSP00000446380:L26P;ENSP00000356934:L43P;ENSP00000294798:L26P;ENSP00000309596:L26P;ENSP00000294796:L26P;ENSP00000356930:L26P;ENSP00000356927:L3P	ENSP00000236938:L43P	L	+	2	0	FCRLA	159943755	0.104000	0.21937	0.070000	0.20053	0.074000	0.17049	0.355000	0.20163	0.167000	0.19631	0.533000	0.62120	CTG		0.507	FCRLA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083574.1	NM_032738		C	161677131	T	C	161677131	3	2	741	1	0	0	0	0	1	0	0	0	5802	1580	55	3	130	3	FCRLA	1	161677131	Missense_Mutation	SNP	T	TCGA-KN-8435-01A-11D-2310-10	50794435	161677131	87573490	8	43237											
COL3A1	1281	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	2	189873717	189873717	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr2:189873717G>A	ENST00000304636.3	+	48	3763	c.3593G>A	c.(3592-3594)gGt>gAt	p.G1198D	COL3A1_ENST00000317840.5_Missense_Mutation_p.G895D	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1198	Nonhelical region (C-terminal).				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)	CCTTGCTGTGGTGGTGTTGGA	0.542																																																0													71	79	76					2																	189873717		2203	4300	6503	SO:0001583	missense	1281			X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"Collagens"	2201	protein-coding gene	gene with protein product		120180	"Ehlers-Danlos syndrome type IV, autosomal dominant"	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.3593G>A	2.37:g.189873717G>A	ENSP00000304408:p.Gly1198Asp		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.793993	0.50102	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	D;D	0.90261	-2.52;-2.64	5.54	4.66	0.58398	.	.	.	.	.	T	0.77624	0.4158	N	0.08118	0	0.37055	D	0.897788	B	0.06786	0.001	B	0.04013	0.001	T	0.70898	-0.4747	9	0.09084	T	0.74	.	9.9195	0.41455	0.0729:0.149:0.7781:0.0	.	1198	P02461	CO3A1_HUMAN	D	1198;895	ENSP00000304408:G1198D;ENSP00000315243:G895D	ENSP00000304408:G1198D	G	+	2	0	COL3A1	189581962	1.000000	0.71417	0.997000	0.53966	0.834000	0.47266	8.061000	0.89467	1.310000	0.45006	0.655000	0.94253	GGT		0.542	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		A	189873717	G	A	189873717	3	1	741	1	0	0	0	0	1	0	0	0	3690	1261	44	2	3783	2	COL3A1	2	189873717	Missense_Mutation	SNP	G	TCGA-KN-8435-01A-11D-2310-10		189873717	53325656	9	43238											
CYP20A1	57404	bcgsc.ca	37	2	204161576	204161576	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr2:204161576A>G	ENST00000356079.4	+	13	1457	c.1334A>G	c.(1333-1335)gAa>gGa	p.E445G	CYP20A1_ENST00000429815.2_Missense_Mutation_p.E453G|CYP20A1_ENST00000461371.1_3'UTR	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A, polypeptide 1	445						integral component of membrane (GO:0016021)|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)			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						ACAAAGTATGAACTGGTAACA	0.348																																																0													107	106	106					2																	204161576		2203	4300	6503	SO:0001583	missense	57404			AK021770	CCDS2357.1	2q33	2008-02-05			ENSG00000119004	ENSG00000119004		"Cytochrome P450s"	20576	protein-coding gene	gene with protein product							Standard	NM_177538		Approved	CYP-M	uc002uzv.4	Q6UW02	OTTHUMG00000132854	ENST00000356079.4:c.1334A>G	2.37:g.204161576A>G	ENSP00000348380:p.Glu445Gly		Q4ZG61|Q8N4Q8|Q8WWA9|Q9HC04	Missense_Mutation	SNP	ENST00000356079.4	37	CCDS2357.1	.	.	.	.	.	.	.	.	.	.	A	19.81	3.896548	0.72639	.	.	ENSG00000119004	ENST00000356079;ENST00000421618;ENST00000429815	T;T	0.70282	-0.47;-0.47	5.63	5.63	0.86233	.	0.052405	0.64402	D	0.000001	T	0.61714	0.2369	L	0.31664	0.95	0.80722	D	1	P;B	0.34977	0.478;0.029	B;B	0.37601	0.254;0.036	T	0.59359	-0.7469	10	0.23302	T	0.38	-18.0972	15.8391	0.78831	1.0:0.0:0.0:0.0	.	453;445	E9PHG5;Q6UW02	.;CP20A_HUMAN	G	445;418;453	ENSP00000348380:E445G;ENSP00000407860:E453G	ENSP00000348380:E445G	E	+	2	0	CYP20A1	203869821	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.183000	0.89700	2.134000	0.65973	0.482000	0.46254	GAA		0.348	CYP20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256328.3	NM_020674		G	204161576	A	G	204161576	3	3	741	1	0	0	0	0	1	0	0	0	4154	246	9	3	1384	3	CYP20A1	2	204161576	Missense_Mutation	SNP	A	TCGA-KN-8435-01A-11D-2310-10	14287859	204161576	39037797	10	43239											
AQP12A	375318	mdanderson.org	37	2	241631668	241631668	+	Silent	SNP	T	T	C	rs4343462	byFrequency	TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr2:241631668T>C	ENST00000337801.4	+	2	370	c.301T>C	c.(301-303)Ttg>Ctg	p.L101L	AQP12A_ENST00000429564.1_Silent_p.L113L|AC011298.2_ENST00000407635.2_lincRNA	NM_198998.2	NP_945349.1	Q8IXF9	AQ12A_HUMAN	aquaporin 12A	101						integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(2)|kidney(3)|large_intestine(2)|lung(7)	14		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;2.2e-31)|all cancers(36;1.08e-28)|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;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		TGGCACGCTGTTGAAGCTGGC	0.682													N|||	46	0.0091853	0.0295	0.0058	5008	,	,		13571	0.002		0.001	False		,,,				2504	0.0															0										55,4087		4,47,2020	26	36	33		301	1.6	0.8	2	dbSNP_111	33	6,8504		0,6,4249	no	coding-synonymous	AQP12A	NM_198998.1		4,53,6269	CC,CT,TT		0.0705,1.3279,0.4821		101/296	241631668	61,12591	2071	4255	6326	SO:0001819	synonymous_variant	375318			AB040748		2q37.3	2013-06-03	2005-05-26	2005-05-26	ENSG00000184945	ENSG00000184945		"Ion channels / Aquaporins"	19941	protein-coding gene	gene with protein product		609789	"aquaporin 12"	AQP12			Standard	NM_198998		Approved		uc002vzu.3	Q8IXF9	OTTHUMG00000183906	ENST00000337801.4:c.301T>C	2.37:g.241631668T>C				Silent	SNP	ENST00000337801.4	37																																																																																					0.682	AQP12A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000257185.2	NM_198998		C	241631668	T	C	241631668	2	2	741	1	0	0	0	0	0	0	0	1	824	1722	60	3		3	AQP12A	2	241631668	Silent	SNP	T	TCGA-KN-8435-01A-11D-2310-10	37470092	241631668	1567705	11	43240											
CLASP2	23122	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	3	33686372	33686372	+	Missense_Mutation	SNP	A	A	T			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr3:33686372A>T	ENST00000468888.2	-	8	785	c.739T>A	c.(739-741)Tca>Aca	p.S247T	CLASP2_ENST00000399362.4_Missense_Mutation_p.S247T|CLASP2_ENST00000313350.6_Missense_Mutation_p.S20T|CLASP2_ENST00000333778.6_Missense_Mutation_p.S24T|CLASP2_ENST00000307312.7_5'UTR|CLASP2_ENST00000482896.1_5'UTR|CLASP2_ENST00000359576.5_Missense_Mutation_p.S247T|CLASP2_ENST00000487200.1_Missense_Mutation_p.S20T|CLASP2_ENST00000480013.1_Missense_Mutation_p.S14T|CLASP2_ENST00000539981.1_Missense_Mutation_p.S20T|CLASP2_ENST00000461133.3_Missense_Mutation_p.S14T			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	14					axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						CCATCCACTGATTCTTCATCA	0.403																																																0													84	77	79					3																	33686372		1908	4136	6044	SO:0001583	missense	23122			AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.739T>A	3.37:g.33686372A>T	ENSP00000419974:p.Ser247Thr		Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Missense_Mutation	SNP	ENST00000468888.2	37		.	.	.	.	.	.	.	.	.	.	A	22.9	4.353402	0.82243	.	.	ENSG00000163539	ENST00000468888;ENST00000399362;ENST00000359576;ENST00000539981;ENST00000480013;ENST00000461133;ENST00000313350;ENST00000487200;ENST00000333778;ENST00000485378;ENST00000496954	T;T;T	0.20463	2.07;2.12;2.13	5.83	5.83	0.93111	.	0.260982	0.38164	N	0.001783	T	0.39860	0.1094	L	0.49778	1.585	0.80722	D	1	D;D;D;P	0.69078	0.995;0.995;0.997;0.954	P;P;D;D	0.66351	0.849;0.849;0.928;0.943	T	0.16660	-1.0395	10	0.87932	D	0	-15.3362	14.7605	0.69602	1.0:0.0:0.0:0.0	.	24;20;20;247	E7ENG2;B3KR06;O75122-2;F5H604	.;.;.;.	T	247;247;247;20;14;14;20;20;24;20;14	ENSP00000419974:S247T;ENSP00000382297:S247T;ENSP00000352581:S247T	ENSP00000324364:S20T	S	-	1	0	CLASP2	33661376	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.188000	0.65093	2.222000	0.72286	0.477000	0.44152	TCA		0.403	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000344320.4	NM_001207044		T	33686372	A	T	33686372	3	4	741	1	0	0	0	0	1	0	0	0	3457	333	12	5	3905	5	CLASP2	3	33686372	Missense_Mutation	SNP	A	TCGA-KN-8435-01A-11D-2310-10		33686372	164336058	12	43241											
MON1A	84315	broad.mit.edu	37	3	49967246	49967246	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr3:49967246delG	ENST00000296473.3	-	1	332	c.74delC	c.(73-75)gctfs	p.A25fs	MON1A_ENST00000483022.1_5'UTR|MON1A_ENST00000417270.1_5'UTR|MON1A_ENST00000455683.2_Frame_Shift_Del_p.A25fs	NM_032355.3	NP_115731.2	Q86VX9	MON1A_HUMAN	MON1 secretory trafficking family member A	0										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CAGGAAGATAGCTTTCGCCGG	0.706																																																0													1	3	2					3																	49967246		457	1201	1658	SO:0001589	frameshift_variant	84315			AK074404	CCDS2808.2, CCDS46830.1	3p21.31	2013-08-21	2013-08-21		ENSG00000164077	ENSG00000164077			28207	protein-coding gene	gene with protein product		611464	"MON1 homolog A (yeast)"			12477932	Standard	NM_032355		Approved	MGC13272, SAND1	uc003cxz.3	Q86VX9	OTTHUMG00000156737	ENST00000296473.3:c.74delC	3.37:g.49967246delG	ENSP00000296473:p.Ala25fs		B2RDQ1|G5E9N1|Q8NAV7|Q9BRF3	Frame_Shift_Del	DEL	ENST00000296473.3	37	CCDS2808.2																																																																																				0.706	MON1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345534.2	NM_032355		-	49967246	G	-	49967246	7	5	741	1	0	1	0	1	0	0	0	0	9700	971	34	0	1908	0	MON1A	3	49967246	Frame_Shift_Del	DEL	G	TCGA-KN-8435-01A-11D-2310-10	16280874	49967246	148055184	13	43242											
ABHD10	55347	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	3	111710501	111710501	+	Missense_Mutation	SNP	C	C	A			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr3:111710501C>A	ENST00000273359.3	+	5	881	c.854C>A	c.(853-855)gCa>gAa	p.A285E	ABHD10_ENST00000534857.1_Missense_Mutation_p.A128E	NM_018394.2	NP_060864.1	Q9NUJ1	ABHDA_HUMAN	abhydrolase domain containing 10	285					glucuronoside catabolic process (GO:0019391)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			large_intestine(2)|lung(7)|skin(1)	10						AGGGAAAAAGCAGACATTCAA	0.388																																																0													110	95	100					3																	111710501		2203	4300	6503	SO:0001583	missense	55347			AL713726	CCDS2963.1, CCDS63718.1	3q13.2	2012-03-26			ENSG00000144827	ENSG00000144827		"Abhydrolase domain containing"	25656	protein-coding gene	gene with protein product						22294686	Standard	NM_018394		Approved	FLJ11342	uc003dyk.5	Q9NUJ1	OTTHUMG00000159280	ENST00000273359.3:c.854C>A	3.37:g.111710501C>A	ENSP00000273359:p.Ala285Glu		B7Z6A8|C9IZX5|D3DN63|Q8TCF9	Missense_Mutation	SNP	ENST00000273359.3	37	CCDS2963.1	.	.	.	.	.	.	.	.	.	.	C	11.17	1.558635	0.27827	.	.	ENSG00000144827	ENST00000534857;ENST00000273359	T;T	0.35605	1.3;1.3	5.83	4.89	0.63831	.	0.162113	0.53938	D	0.000041	T	0.13543	0.0328	N	0.02751	-0.505	0.39385	D	0.966326	B	0.06786	0.001	B	0.10450	0.005	T	0.16394	-1.0404	10	0.02654	T	1	-13.2051	11.1048	0.48197	0.3475:0.6525:0.0:0.0	.	285	Q9NUJ1	ABHDA_HUMAN	E	128;285	ENSP00000442932:A128E;ENSP00000273359:A285E	ENSP00000273359:A285E	A	+	2	0	ABHD10	113193191	1.000000	0.71417	0.965000	0.40720	0.886000	0.51366	4.440000	0.59975	2.771000	0.95319	0.591000	0.81541	GCA		0.388	ABHD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354326.1	NM_018394		A	111710501	C	A	111710501	3	1	741	1	0	0	0	0	1	0	0	0	74	710	25	4	872	4	ABHD10	3	111710501	Missense_Mutation	SNP	C	TCGA-KN-8435-01A-11D-2310-10	61743255	111710501	86311929	14	43243											
CCRL1	51554	broad.mit.edu	37	3	132320028	132320029	+	Frame_Shift_Ins	INS	-	-	G	rs142433574	byFrequency	TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr3:132320028_132320029insG	ENST00000249887.2	+	2	883_884	c.787_788insG	c.(787-789)cgafs	p.R263fs	ACAD11_ENST00000264990.6_Intron|ACAD11_ENST00000545291.1_Intron|ACAD11_ENST00000355458.3_Intron	NM_016557.2|NM_178445.2	NP_057641.1|NP_848540.1	Q9NPB9	ACKR4_HUMAN	atypical chemokine receptor 4	263					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)										CAAGTTCTGCCGAGCCATAGAC	0.446																																																0																																										SO:0001589	frameshift_variant	51554			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.788dupG	3.37:g.132320029_132320029dupG	ENSP00000249887:p.Arg263fs		B2R9U7	Frame_Shift_Ins	INS	ENST00000249887.2	37	CCDS3075.1																																																																																				0.446	ACKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357238.2	NM_016557		G	132320029	-	G	132320028	7	5	741	1	0	1	1	0	0	0	0	0	2951	644	23	0	789	0	CCRL1	3	132320028	Frame_Shift_Ins	INS	-	TCGA-KN-8435-01A-11D-2310-10	20609527	132320028	65702402	15	43244											
C3orf33	285315	bcgsc.ca	37	3	155485327	155485327	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr3:155485327C>T	ENST00000340171.2	-	4	552	c.454G>A	c.(454-456)Gca>Aca	p.A152T	C3orf33_ENST00000534941.1_Missense_Mutation_p.A109T			Q6P1S2	CC033_HUMAN	chromosome 3 open reading frame 33	152					negative regulation of ERK1 and ERK2 cascade (GO:0070373)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)			breast(1)|kidney(1)|large_intestine(3)|lung(3)	8			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CAAAAGAGTGCTGAATTCTCC	0.358																																																0													138	105	115					3																	155485327		1859	4101	5960	SO:0001583	missense	285315			AF115515	CCDS54659.1	3q25.31	2012-10-31			ENSG00000174928	ENSG00000174928			26434	protein-coding gene	gene with protein product						20680465	Standard	NM_173657		Approved	FLJ31139, AC3-33	uc003fal.1	Q6P1S2	OTTHUMG00000158496	ENST00000340171.2:c.454G>A	3.37:g.155485327C>T	ENSP00000342512:p.Ala152Thr		A8K1H5|Q86YE6|Q8IXA7|Q96NB5	Missense_Mutation	SNP	ENST00000340171.2	37		.	.	.	.	.	.	.	.	.	.	C	10.84	1.463087	0.26248	.	.	ENSG00000174928	ENST00000534941;ENST00000340171;ENST00000537385	T;T	0.28666	1.6;1.6	5.28	-2.47	0.06442	Staphylococcal nuclease (SNase-like) (1);	0.655301	0.15921	N	0.238120	T	0.14485	0.0350	L	0.28192	0.835	0.09310	N	0.999999	B	0.16603	0.018	B	0.10450	0.005	T	0.24261	-1.0165	10	0.17369	T	0.5	-16.3589	4.5596	0.12154	0.2285:0.434:0.0:0.3375	.	152	Q6P1S2	CC033_HUMAN	T	109;152;152	ENSP00000445446:A109T;ENSP00000342512:A152T	ENSP00000342512:A152T	A	-	1	0	C3orf33	156968021	0.227000	0.23707	0.117000	0.21633	0.976000	0.68499	0.700000	0.25601	-0.242000	0.09667	0.591000	0.81541	GCA		0.358	C3orf33-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351167.1	NM_173657		T	155485327	C	T	155485327	3	4	741	1	0	0	0	0	1	0	0	0	2225	797	28	2	438	2	C3orf33	3	155485327	Missense_Mutation	SNP	C	TCGA-KN-8435-01A-11D-2310-10	23165299	155485327	42537103	16	43245											
PAK2	5062	mdanderson.org	37	3	196530013	196530013	+	Silent	SNP	A	A	G	rs73205842	byFrequency	TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr3:196530013A>G	ENST00000327134.3	+	4	736	c.414A>G	c.(412-414)aaA>aaG	p.K138K		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	138					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:2001271)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of defense response to virus by virus (GO:0050690)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activator activity (GO:0030296)			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		TGAAGCAGAAATATCTGAGCT	0.418																																																0													92	84	87					3																	196530013		2203	4300	6503	SO:0001819	synonymous_variant	5062			U24153	CCDS3321.1	3q29	2008-06-17	2008-06-17			ENSG00000180370	2.7.11.1		8591	protein-coding gene	gene with protein product	"S6/H4 kinase"	605022	"p21 (CDKN1A)-activated kinase 2"			7744004, 7618083	Standard	NM_002577		Approved	PAK65, PAKgamma	uc003fwy.4	Q13177		ENST00000327134.3:c.414A>G	3.37:g.196530013A>G			Q13154|Q6ISC3	Silent	SNP	ENST00000327134.3	37	CCDS3321.1																																																																																				0.418	PAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340548.1	NM_002577		G	196530013	A	G	196530013	2	3	741	1	0	0	0	0	0	0	0	1	11403	98	4	3		3	PAK2	3	196530013	Silent	SNP	A	TCGA-KN-8435-01A-11D-2310-10	41044686	196530013	1492417	17	43246											
NAT8L	339983	broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	2065597	2065597	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr4:2065597C>T	ENST00000423729.2	+	3	652	c.652C>T	c.(652-654)Cgt>Tgt	p.R218C	NAT8L_ENST00000331662.3_Missense_Mutation_p.R50C	NM_178557.3	NP_848652.2	Q8N9F0	NAT8L_HUMAN	N-acetyltransferase 8-like (GCN5-related, putative)	218	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				metabolic process (GO:0008152)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)	aspartate N-acetyltransferase activity (GO:0017188)			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(23;0.0315)			TGTGGACTCACGTTTCCGAGG	0.667																																																0													81	61	67					4																	2065597		2202	4300	6502	SO:0001583	missense	339983			AK094797	CCDS3359.1, CCDS3359.2	4p16.3	2011-11-16	2008-09-24		ENSG00000185818	ENSG00000185818			26742	protein-coding gene	gene with protein product		610647	"N-acetyltransferase 8-like"			11397015	Standard	NM_178557		Approved	FLJ37478, Hcml3	uc003geq.2	Q8N9F0	OTTHUMG00000121151	ENST00000423729.2:c.652C>T	4.37:g.2065597C>T	ENSP00000413064:p.Arg218Cys			Missense_Mutation	SNP	ENST00000423729.2	37	CCDS3359.2	.	.	.	.	.	.	.	.	.	.	C	19.07	3.755264	0.69648	.	.	ENSG00000185818	ENST00000423729;ENST00000331662	T;T	0.23348	1.91;1.91	5.54	4.61	0.57282	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.475646	0.21667	U	0.070925	T	0.39989	0.1099	L	0.46157	1.445	0.51767	D	0.999932	D	0.76494	0.999	D	0.65987	0.94	T	0.10543	-1.0625	10	0.62326	D	0.03	-20.8764	10.9382	0.47257	0.3955:0.6045:0.0:0.0	.	218	Q8N9F0	NAT8L_HUMAN	C	218;50	ENSP00000413064:R218C;ENSP00000328464:R50C	ENSP00000328464:R50C	R	+	1	0	NAT8L	2035395	0.977000	0.34250	0.986000	0.45419	0.509000	0.34042	3.848000	0.55903	2.604000	0.88044	0.450000	0.29827	CGT		0.667	NAT8L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178557		T	2065597	C	T	2065597	3	4	741	1	0	0	0	0	1	0	0	0	10183	536	19	1	662	1	NAT8L	4	2065597	Missense_Mutation	SNP	C	TCGA-KN-8435-01A-11D-2310-10		2065597	189088679	18	43247											
SMARCA5	8467	hgsc.bcm.edu	37	4	144442709	144442710	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr4:144442709_144442710insA	ENST00000283131.3	+	3	842_843	c.380_381insA	c.(379-384)ataaaafs	p.IK127fs		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	127					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA-templated transcription, initiation (GO:0006352)|double-strand break repair (GO:0006302)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin silencing complex (GO:0005677)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NURF complex (GO:0016589)|RSF complex (GO:0031213)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					CGCCCACGAATAAAAAAAGATG	0.381																																																0																																										SO:0001589	frameshift_variant	8467			AB010882	CCDS3761.1	4q31.1-q31.2	2011-04-20			ENSG00000153147	ENSG00000153147			11101	protein-coding gene	gene with protein product		603375				9730600	Standard	NM_003601		Approved	hSNF2H, hISWI, ISWI	uc003ijg.3	O60264	OTTHUMG00000161474	ENST00000283131.3:c.387dupA	4.37:g.144442716_144442716dupA	ENSP00000283131:p.Ile127fs			Frame_Shift_Ins	INS	ENST00000283131.3	37	CCDS3761.1																																																																																				0.381	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365077.3			A	144442710	-	A	144442709	7	5	741	1	0	1	1	0	0	0	0	0	14777	1406	49	0	390	0	SMARCA5	4	144442709	Frame_Shift_Ins	INS	-	TCGA-KN-8435-01A-11D-2310-10	142377112	144442709	46711567	19	43248	416	2									
SMARCA5	8467	bcgsc.ca	37	4	144442710	144442711	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr4:144442710_144442711insA	ENST00000283131.3	+	3	843_844	c.381_382insA	c.(382-384)aaafs	p.K128fs		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	128					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA-templated transcription, initiation (GO:0006352)|double-strand break repair (GO:0006302)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin silencing complex (GO:0005677)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NURF complex (GO:0016589)|RSF complex (GO:0031213)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					GCCCACGAATAAAAAAAGATGA	0.386																																																0																																										SO:0001589	frameshift_variant	8467			AB010882	CCDS3761.1	4q31.1-q31.2	2011-04-20			ENSG00000153147	ENSG00000153147			11101	protein-coding gene	gene with protein product		603375				9730600	Standard	NM_003601		Approved	hSNF2H, hISWI, ISWI	uc003ijg.3	O60264	OTTHUMG00000161474	ENST00000283131.3:c.387dupA	4.37:g.144442716_144442716dupA	ENSP00000283131:p.Lys128fs			Frame_Shift_Ins	INS	ENST00000283131.3	37	CCDS3761.1																																																																																				0.386	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365077.3			A	144442711	-	A	144442710	7	5	741	1	0	1	1	0	0	0	0	0	14777	352	13	0	391	0	SMARCA5	4	144442710	Frame_Shift_Ins	INS	-	TCGA-KN-8435-01A-11D-2310-10	1	144442710	46711566	20	43249	416	2									
ETFDH	2110	mdanderson.org	37	4	159601752	159601752	+	Silent	SNP	A	A	G			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr4:159601752A>G	ENST00000511912.1	+	2	500	c.168A>G	c.(166-168)agA>agG	p.R56R	ETFDH_ENST00000307738.5_Intron	NM_001281738.1|NM_004453.2	NP_001268667.1|NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	56					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)		AGGACAAGAGATGGGAAGGTA	0.333																																																0													102	97	99					4																	159601752		2203	4298	6501	SO:0001819	synonymous_variant	2110			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.168A>G	4.37:g.159601752A>G			B4E3R9|J3KND9|Q7Z347	Silent	SNP	ENST00000511912.1	37	CCDS3800.1	.	.	.	.	.	.	.	.	.	.	A	12.94	2.089012	0.36855	.	.	ENSG00000171503	ENST00000512251	.	.	.	5.54	3.05	0.35203	.	.	.	.	.	T	0.64000	0.2559	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63296	-0.6669	5	0.87932	D	0	-20.4541	8.1689	0.31243	0.7941:0.1352:0.0707:0.0	.	.	.	.	G	36	.	ENSP00000425661:D36G	D	+	2	0	ETFDH	159821202	1.000000	0.71417	0.998000	0.56505	0.940000	0.58332	3.251000	0.51453	0.456000	0.26937	0.482000	0.46254	GAT		0.333	ETFDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365718.2			G	159601752	A	G	159601752	2	3	741	1	0	0	0	0	0	0	0	1	5273	330	12	3		3	ETFDH	4	159601752	Silent	SNP	A	TCGA-KN-8435-01A-11D-2310-10	15159042	159601752	31552524	21	43250											
SLC25A46	91137	broad.mit.edu	37	5	110097244	110097244	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr5:110097244G>A	ENST00000355943.3	+	8	1145	c.1019G>A	c.(1018-1020)cGc>cAc	p.R340H	SLC25A46_ENST00000509432.1_Missense_Mutation_p.R127H|SLC25A46_ENST00000504098.1_Missense_Mutation_p.R194H|SLC25A46_ENST00000447245.2_Missense_Mutation_p.R259H|SLC25A46_ENST00000513706.1_3'UTR|SLC25A46_ENST00000509442.2_Missense_Mutation_p.R249H|SLC25A46_ENST00000513807.1_Missense_Mutation_p.R178H	NM_138773.1	NP_620128.1	Q96AG3	S2546_HUMAN	solute carrier family 25, member 46	340					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)		GTTTTGCACCGCCTTCACATT	0.393																																																0													255	242	246					5																	110097244		2202	4300	6502	SO:0001583	missense	91137			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.1019G>A	5.37:g.110097244G>A	ENSP00000348211:p.Arg340His		A8K2F2|B3KRE6|B4DTA3|D3DSZ6|D6R9W7|Q04197	Missense_Mutation	SNP	ENST00000355943.3	37	CCDS4100.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.985424	0.93044	.	.	ENSG00000164209	ENST00000513807;ENST00000509442;ENST00000355943;ENST00000514046;ENST00000447245;ENST00000504098;ENST00000509432	D;D;D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79;-1.79;-1.79	5.71	5.71	0.89125	Mitochondrial carrier domain (2);	0.044516	0.85682	D	0.000000	D	0.93657	0.7974	M	0.92880	3.355	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.993;0.997	D	0.94518	0.7724	10	0.87932	D	0	-9.4977	19.8594	0.96778	0.0:0.0:1.0:0.0	.	249;340	B4DY98;Q96AG3	.;S2546_HUMAN	H	178;249;340;194;259;194;127	ENSP00000421134:R178H;ENSP00000424136:R249H;ENSP00000348211:R340H;ENSP00000399717:R259H;ENSP00000425708:R194H;ENSP00000426604:R127H	ENSP00000348211:R340H	R	+	2	0	SLC25A46	110125143	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.897000	0.92532	2.691000	0.91804	0.650000	0.86243	CGC		0.393	SLC25A46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250721.5	NM_138773		A	110097244	G	A	110097244	3	1	741	1	0	0	0	0	1	0	0	0	14517	1087	38	1	1049	1	SLC25A46	5	110097244	Missense_Mutation	SNP	G	TCGA-KN-8435-01A-11D-2310-10		110097244	70818016	22	43251											
PCDHA6	56142	mdanderson.org	37	5	140208909	140208909	+	Silent	SNP	T	T	C	rs664837	byFrequency	TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr5:140208909T>C	ENST00000529310.1	+	1	1347	c.1233T>C	c.(1231-1233)agT>agC	p.S411S	PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Silent_p.S411S|PCDHA5_ENST00000529859.1_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	411	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)	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)			TGCTGGACAGTGCCCTGGACC	0.622													.|||	3	0.000599042	0.0	0.0043	5008	,	,		20184	0.0		0.0	False		,,,				2504	0.0															0													148	146	147					5																	140208909		2203	4300	6503	SO:0001819	synonymous_variant	56142			AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"Cadherins / Protocadherins : Clustered"	8672	other	complex locus constituent	"KIAA0345-like 8"	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1233T>C	5.37:g.140208909T>C			O75283|Q9NRT8	Silent	SNP	ENST00000529310.1	37	CCDS47281.1																																																																																				0.622	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		C	140208909	T	C	140208909	2	2	741	1	0	0	0	0	0	0	0	1	11530	1693	59	3		3	PCDHA6	5	140208909	Silent	SNP	T	TCGA-KN-8435-01A-11D-2310-10	30111665	140208909	40706351	23	43252											
DOCK2	1794	mdanderson.org	37	5	169504743	169504743	+	Silent	SNP	T	T	C	rs1045168	byFrequency	TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr5:169504743T>C	ENST00000256935.8	+	48	4976	c.4896T>C	c.(4894-4896)cgT>cgC	p.R1632R	DOCK2_ENST00000520908.1_Silent_p.R1124R|DOCK2_ENST00000540750.1_Silent_p.R693R|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1632					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)	p.R1632R(1)		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)			GAGTGGGCCGTCCCAGGTCTA	0.577													C|||	1458	0.291134	0.3782	0.2579	5008	,	,		15757	0.1071		0.334	False		,,,				2504	0.3425															1	Substitution - coding silent(1)	stomach(1)						C		1660,2746	658.5+/-400.4	303,1054,846	132	119	124		4896	-5.4	0.9	5	dbSNP_86	124	2650,5950	685.7+/-404.1	414,1822,2064	no	coding-synonymous	DOCK2	NM_004946.2		717,2876,2910	CC,CT,TT		30.814,37.6759,33.1386		1632/1831	169504743	4310,8696	2203	4300	6503	SO:0001819	synonymous_variant	1794			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.4896T>C	5.37:g.169504743T>C			Q2M3I0|Q96AK7	Silent	SNP	ENST00000256935.8	37	CCDS4371.1																																																																																				0.577	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		C	169504743	T	C	169504743	2	2	741	1	0	0	0	0	0	0	0	1	4689	1654	58	3		3	DOCK2	5	169504743	Silent	SNP	T	TCGA-KN-8435-01A-11D-2310-10	29295834	169504743	11410517	24	43253											
DPCR1	135656	broad.mit.edu	37	6	30917845	30917845	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr6:30917845C>T	ENST00000462446.1	+	2	1632	c.1604C>T	c.(1603-1605)cCa>cTa	p.P535L	HCG21_ENST00000419481.1_RNA|DPCR1_ENST00000304311.2_5'UTR			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	280						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						AACACCACACCATCCCCAGCA	0.512																																																0													83	92	89					6																	30917845		692	1591	2283	SO:0001583	missense	135656			AB064272	CCDS4692.1, CCDS4692.2	6p21.32	2008-02-05			ENSG00000168631	ENSG00000168631			21666	protein-coding gene	gene with protein product		613928				12185533, 10677310	Standard	NM_080870		Approved	PBLT, bCX105N19.6	uc003nsg.2	Q3MIW9	OTTHUMG00000031104	ENST00000462446.1:c.1604C>T	6.37:g.30917845C>T	ENSP00000417182:p.Pro535Leu		C9IZC0|Q658M7|Q8WYN2	Missense_Mutation	SNP	ENST00000462446.1	37	CCDS4692.2	.	.	.	.	.	.	.	.	.	.	-	1.979	-0.434705	0.04669	.	.	ENSG00000168631	ENST00000462446	T	0.46451	0.87	2.42	-3.88	0.04205	.	.	.	.	.	T	0.13286	0.0322	M	0.69823	2.125	0.09310	N	0.999999	B	0.18741	0.03	B	0.17979	0.02	T	0.28267	-1.0049	9	0.30078	T	0.28	.	0.5003	0.00578	0.2318:0.1654:0.3276:0.2752	.	535	E9PEI6	.	L	535	ENSP00000417182:P535L	ENSP00000417182:P535L	P	+	2	0	DPCR1	31025824	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.305000	0.08188	-1.062000	0.03181	0.538000	0.68166	CCA		0.512	DPCR1-001	NOVEL	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076173.3	NM_080870		T	30917845	C	T	30917845	3	4	741	1	0	0	0	0	1	0	0	0	4714	594	21	2	1610	2	DPCR1	6	30917845	Missense_Mutation	SNP	C	TCGA-KN-8435-01A-11D-2310-10		30917845	140197222	25	43254											
CD109	135228	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	6	74520746	74520746	+	Missense_Mutation	SNP	A	A	C			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr6:74520746A>C	ENST00000287097.5	+	28	3690	c.3578A>C	c.(3577-3579)gAa>gCa	p.E1193A	CD109_ENST00000437994.2_Missense_Mutation_p.E1193A|CD109_ENST00000422508.2_Missense_Mutation_p.E1116A			Q6YHK3	CD109_HUMAN	CD109 molecule	1193					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCTCTGTCTGAATTTGCAGCC	0.398																																																0													115	115	115					6																	74520746		2203	4300	6503	SO:0001583	missense	135228			AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"CD molecules"	21685	protein-coding gene	gene with protein product		608859	"CD109 antigen (Gov platelet alloantigens)"			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.3578A>C	6.37:g.74520746A>C	ENSP00000287097:p.Glu1193Ala		A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	ENST00000287097.5	37	CCDS4982.1	.	.	.	.	.	.	.	.	.	.	A	9.542	1.113523	0.20795	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.39592	1.07;1.07;1.07	5.2	4.04	0.47022	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.554792	0.20420	N	0.092694	T	0.11410	0.0278	L	0.31578	0.945	0.26257	N	0.978636	B;B;B	0.32350	0.366;0.125;0.022	B;B;B	0.29785	0.107;0.072;0.098	T	0.05257	-1.0896	10	0.23891	T	0.37	.	6.0642	0.19854	0.5255:0.3335:0.0:0.141	.	1116;1193;1193	Q6YHK3-2;Q6YHK3-4;Q6YHK3	.;.;CD109_HUMAN	A	1193;1116;1193	ENSP00000388062:E1193A;ENSP00000404475:E1116A;ENSP00000287097:E1193A	ENSP00000287097:E1193A	E	+	2	0	CD109	74577467	0.107000	0.21998	1.000000	0.80357	0.963000	0.63663	0.782000	0.26788	2.180000	0.69256	0.533000	0.62120	GAA		0.398	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493		C	74520746	A	C	74520746	3	2	741	1	0	0	0	0	1	0	0	0	2965	246	9	5	3688	5	CD109	6	74520746	Missense_Mutation	SNP	A	TCGA-KN-8435-01A-11D-2310-10	43602901	74520746	96594321	26	43255											
RIPPLY2	134701	broad.mit.edu	37	6	84567032	84567033	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr6:84567032_84567033insA	ENST00000369689.1	+	4	462_463	c.311_312insA	c.(310-315)ccaattfs	p.I105fs	RIPPLY2_ENST00000369687.1_Frame_Shift_Ins_p.I47fs|CYB5R4_ENST00000369681.5_5'Flank|CYB5R4_ENST00000369679.4_5'Flank	NM_001009994.1	NP_001009994.1	Q5TAB7	RIPP2_HUMAN	ripply transcriptional repressor 2	105	Ripply homology domain. {ECO:0000255}.				bone morphogenesis (GO:0060349)|determination of left/right symmetry (GO:0007368)|Notch signaling pathway (GO:0007219)|ossification (GO:0001503)|post-anal tail morphogenesis (GO:0036342)|regulation of gene expression (GO:0010468)|somite rostral/caudal axis specification (GO:0032525)|somitogenesis (GO:0001756)	nucleus (GO:0005634)				large_intestine(2)|lung(4)|urinary_tract(1)	7						AAAAATTTTCCAATTCAAGCCA	0.297																																																0																																										SO:0001589	frameshift_variant	134701			BC130460	CCDS34493.1	6q14.2	2013-07-23	2013-07-23	2008-05-07	ENSG00000203877	ENSG00000203877			21390	protein-coding gene	gene with protein product		609891	"chromosome 6 open reading frame 159", "ripply2 homolog (zebrafish)"	C6orf159			Standard	NM_001009994		Approved	dJ237I15.1	uc003pke.3	Q5TAB7	OTTHUMG00000015117	ENST00000369689.1:c.313dupA	6.37:g.84567034_84567034dupA	ENSP00000358703:p.Ile105fs		Q5TAB6	Frame_Shift_Ins	INS	ENST00000369689.1	37	CCDS34493.1																																																																																				0.297	RIPPLY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041360.1	NM_001009994		A	84567033	-	A	84567032	7	5	741	1	0	1	1	0	0	0	0	0	13391	594	21	0	325	0	RIPPLY2	6	84567032	Frame_Shift_Ins	INS	-	TCGA-KN-8435-01A-11D-2310-10	10046286	84567032	86548035	27	43256											
GJA1	2697	mdanderson.org	37	6	121769050	121769050	+	Silent	SNP	T	T	C			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr6:121769050T>C	ENST00000282561.3	+	2	1214	c.1057T>C	c.(1057-1059)Tta>Cta	p.L353L		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	353					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)	TGGACATGAATTACAGCCACT	0.522																																																0													54	60	58					6																	121769050		2199	4298	6497	SO:0001819	synonymous_variant	2697			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.1057T>C	6.37:g.121769050T>C			B2R5U9|Q6FHU1|Q9Y5I8	Silent	SNP	ENST00000282561.3	37	CCDS5123.1																																																																																				0.522	GJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042023.1	NM_000165		C	121769050	T	C	121769050	2	2	741	1	0	0	0	0	0	0	0	1	6402	1490	52	3		3	GJA1	6	121769050	Silent	SNP	T	TCGA-KN-8435-01A-11D-2310-10	37202018	121769050	49346017	28	43257											
KIAA1244	57221	bcgsc.ca	37	6	138655499	138655499	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr6:138655499A>G	ENST00000251691.4	+	33	5682	c.5516A>G	c.(5515-5517)aAg>aGg	p.K1839R		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)		CAAGTGAAGAAGGTCCTTTTT	0.522																																																0													40	38	38					6																	138655499		2203	4300	6503	SO:0001583	missense	57221			AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	21213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 33"		"chromosome 6 open reading frame 92"	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.5516A>G	6.37:g.138655499A>G	ENSP00000251691:p.Lys1839Arg			Missense_Mutation	SNP	ENST00000251691.4	37	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	A	9.628	1.135731	0.21123	.	.	ENSG00000112379	ENST00000251691;ENST00000367706	T	0.19105	2.17	4.99	2.6	0.31112	.	0.644286	0.16619	N	0.206574	T	0.04182	0.0116	N	0.19112	0.55	0.45690	D	0.998602	B	0.02656	0.0	B	0.04013	0.001	T	0.31308	-0.9948	10	0.17832	T	0.49	-23.402	8.9846	0.35986	0.8474:0.0:0.1526:0.0	.	1839	Q5TH69	BIG3_HUMAN	R	1839;4	ENSP00000251691:K1839R	ENSP00000251691:K1839R	K	+	2	0	KIAA1244	138697192	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	2.452000	0.44961	0.273000	0.22049	0.338000	0.21704	AAG		0.522	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		G	138655499	A	G	138655499	3	3	741	1	0	0	0	0	1	0	0	0	8219	72	3	3	5646	3	KIAA1244	6	138655499	Missense_Mutation	SNP	A	TCGA-KN-8435-01A-11D-2310-10	16886449	138655499	32459568	29	43258											
DAGLB	221955	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	7	6452490	6452490	+	Missense_Mutation	SNP	A	A	T			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr7:6452490A>T	ENST00000297056.6	-	13	1690	c.1521T>A	c.(1519-1521)gaT>gaA	p.D507E	DAGLB_ENST00000425398.2_Missense_Mutation_p.D378E|DAGLB_ENST00000428902.2_Missense_Mutation_p.S367T|DAGLB_ENST00000436575.1_Missense_Mutation_p.D466E	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	507					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)			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)		TTCTCTTCAGATCTTCCAAGT	0.592																																																0													72	58	62					7																	6452490		2202	4297	6499	SO:0001583	missense	221955			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.1521T>A	7.37:g.6452490A>T	ENSP00000297056:p.Asp507Glu		A4D2P3|B3KV90|B4DQU0|Q6PIX3|Q8N2N2|Q8N9S1|Q8TED3|Q8WXE6	Missense_Mutation	SNP	ENST00000297056.6	37	CCDS5350.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.54|10.54	1.379977|1.379977	0.24944|0.24944	.|.	.|.	ENSG00000164535|ENSG00000164535	ENST00000297056;ENST00000425398;ENST00000436575|ENST00000428902	T;T;T|.	0.48201|.	0.84;0.82;0.84|.	5.52|5.52	-5.44|-5.44	0.02624|0.02624	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71178|0.71178	0.3309|0.3309	M|M	0.75447|0.75447	2.3|2.3	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;0.999;0.999|.	D;D;D;D|.	0.91635|.	0.994;0.999;0.979;0.997|.	T|T	0.75510|0.75510	-0.3292|-0.3292	10|6	0.14656|0.41790	T|T	0.56|0.15	-6.0701|-6.0701	17.3302|17.3302	0.87261|0.87261	0.3927:0.0:0.6073:0.0|0.3927:0.0:0.6073:0.0	.|.	378;321;507;204|.	B4DQU0;B4DQQ6;Q8NCG7;B3KRA0|.	.;.;DGLB_HUMAN;.|.	E|T	507;378;466|367	ENSP00000297056:D507E;ENSP00000391171:D378E;ENSP00000404785:D466E|.	ENSP00000297056:D507E|ENSP00000416046:S367T	D|S	-|-	3|1	2|0	DAGLB|DAGLB	6419015|6419015	0.039000|0.039000	0.19947|0.19947	0.030000|0.030000	0.17652|0.17652	0.718000|0.718000	0.41266|0.41266	-0.352000|-0.352000	0.07701|0.07701	-0.913000|-0.913000	0.03832|0.03832	-0.250000|-0.250000	0.11733|0.11733	GAT|TCT		0.592	DAGLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246840.2	NM_139179		T	6452490	A	T	6452490	3	4	741	1	0	0	0	0	1	0	0	0	4229	330	12	5	509	5	DAGLB	7	6452490	Missense_Mutation	SNP	A	TCGA-KN-8435-01A-11D-2310-10		6452490	152686173	30	43259											
HOXA9	3205	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	7	27204514	27204514	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr7:27204514T>C	ENST00000343483.6	-	1	635	c.563A>G	c.(562-564)aAg>aGg	p.K188R	HOXA9_ENST00000396345.1_3'UTR|RP1-170O19.20_ENST00000470747.4_Missense_Mutation_p.K28R|RP1-170O19.20_ENST00000465941.1_Intron|HOXA9_ENST00000497089.1_Intron	NM_152739.3	NP_689952.1	P31269	HXA9_HUMAN	homeobox A9	188					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						GATGGGGGGCTTGTCTCCGCC	0.582			T	"NUP98, MSI2"	AML*																																		Dom	yes		7	7p15-p14.2	3205	homeo box A9		L	0													49	56	53					7																	27204514		2203	4300	6503	SO:0001583	missense	3205				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.563A>G	7.37:g.27204514T>C	ENSP00000343619:p.Lys188Arg		O43369|O43429|Q99820	Missense_Mutation	SNP	ENST00000343483.6	37	CCDS5409.1	.	.	.	.	.	.	.	.	.	.	T	18.19	3.569468	0.65765	.	.	ENSG00000078399;ENSG00000078399;ENSG00000257184	ENST00000343483;ENST00000242050;ENST00000470747	D;D	0.94576	-3.37;-3.46	5.86	5.86	0.93980	Hox9, N-terminal activation domain (1);Homeodomain-like (1);	0.000000	0.64402	D	0.000005	D	0.95582	0.8564	M	0.89534	3.04	0.80722	D	1	B	0.21520	0.057	B	0.26614	0.071	D	0.93911	0.7197	10	0.72032	D	0.01	.	16.2433	0.82426	0.0:0.0:0.0:1.0	.	188	P31269	HXA9_HUMAN	R	188;179;28	ENSP00000343619:K188R;ENSP00000421799:K28R	ENSP00000242050:K179R	K	-	2	0	RP1-170O19.20;HOXA9	27171039	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.283000	0.78640	2.242000	0.73789	0.459000	0.35465	AAG		0.582	HOXA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358706.2			C	27204514	T	C	27204514	3	2	741	1	0	0	0	0	1	0	0	0	7300	1609	56	3	263	3	HOXA9	7	27204514	Missense_Mutation	SNP	T	TCGA-KN-8435-01A-11D-2310-10	20752024	27204514	131934149	31	43260											
ZHX1	11244	mdanderson.org	37	8	124267138	124267138	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr8:124267138T>C	ENST00000522655.1	-	3	1589	c.1049A>G	c.(1048-1050)gAg>gGg	p.E350G	ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000522595.1_5'Flank|ZHX1_ENST00000297857.2_Missense_Mutation_p.E350G|ZHX1_ENST00000395571.3_Missense_Mutation_p.E350G			Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	350	Required for dimerization.|Required for interaction with NFYA.				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)			CCTTCTTGCCTCCTCTACTTC	0.413																																																0													237	203	215					8																	124267138		2203	4300	6503	SO:0001583	missense	11244			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.1049A>G	8.37:g.124267138T>C	ENSP00000428821:p.Glu350Gly		Q8IWD8	Missense_Mutation	SNP	ENST00000522655.1	37	CCDS6342.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.66|17.66	3.445777|3.445777	0.63178|0.63178	.|.	.|.	ENSG00000165156|ENSG00000165156	ENST00000297857;ENST00000395571;ENST00000522655|ENST00000520474	T;T;T|.	0.31247|.	1.5;1.5;1.5|.	5.8|5.8	5.8|5.8	0.92144|0.92144	Homeodomain-related (1);Homeodomain-like (1);|.	0.154395|.	0.56097|.	D|.	0.000027|.	T|T	0.73048|0.73048	0.3537|0.3537	.|.	.|.	.|.	0.54753|0.54753	D|D	0.999989|0.999989	P|.	0.50710|.	0.938|.	P|.	0.49140|.	0.601|.	T|T	0.72243|0.72243	-0.4350|-0.4350	9|4	0.87932|.	D|.	0|.	-14.3997|-14.3997	16.1404|16.1404	0.81517|0.81517	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	350|.	Q9UKY1|.	ZHX1_HUMAN|.	G|G	350|35	ENSP00000297857:E350G;ENSP00000378938:E350G;ENSP00000428821:E350G|.	ENSP00000297857:E350G|.	E|R	-|-	2|1	0|2	ZHX1|ZHX1	124336319|124336319	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.929000|0.929000	0.56500|0.56500	6.286000|6.286000	0.72665|0.72665	2.210000|2.210000	0.71456|0.71456	0.454000|0.454000	0.30748|0.30748	GAG|AGG		0.413	ZHX1-003	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000381759.1			C	124267138	T	C	124267138	3	2	741	1	0	0	0	0	1	0	0	0	17680	1551	54	3	1576	3	ZHX1	8	124267138	Missense_Mutation	SNP	T	TCGA-KN-8435-01A-11D-2310-10		124267138	22096884	32	43261											
CBWD6	644019	broad.mit.edu	37	9	69256826	69256827	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr9:69256826_69256827insC	ENST00000377457.5	-	3	409_410	c.304_305insG	c.(304-306)gaafs	p.E102fs	CBWD6_ENST00000382399.4_Frame_Shift_Ins_p.E102fs|CBWD6_ENST00000377449.1_Frame_Shift_Ins_p.E66fs|CBWD6_ENST00000377441.1_Frame_Shift_Ins_p.E102fs	NM_001085457.1	NP_001078926.1	Q4V339	CBWD6_HUMAN	COBW domain containing 6	102							ATP binding (GO:0005524)			lung(4)	4						GTTTCTAAGTTCCAGCCACTCT	0.376																																																0																																										SO:0001589	frameshift_variant	644019				CCDS43827.1	9q13	2006-06-30			ENSG00000204790	ENSG00000204790			31978	protein-coding gene	gene with protein product							Standard	NM_001085457		Approved	OTTHUMG00000066820	uc004afj.4	Q4V339	OTTHUMG00000066820	ENST00000377457.5:c.305dupG	9.37:g.69256828_69256828dupC	ENSP00000366677:p.Glu102fs			Frame_Shift_Ins	INS	ENST00000377457.5	37	CCDS43827.1																																																																																				0.376	CBWD6-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143172.2	XM_928822		C	69256827	-	C	69256826	7	5	741	1	0	1	1	0	0	0	0	0	2718	1783	62	0	934	0	CBWD6	9	69256826	Frame_Shift_Ins	INS	-	TCGA-KN-8435-01A-11D-2310-10		69256826	71956605	33	43262											
WNK2	65268	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	9	95991992	95991992	+	Silent	SNP	C	C	G			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr9:95991992C>G	ENST00000297954.4	+	2	696	c.696C>G	c.(694-696)acC>acG	p.T232T	WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000427277.2_5'UTR|WNK2_ENST00000395477.2_Silent_p.T232T|WNK2_ENST00000349097.3_5'UTR|WNK2_ENST00000395475.2_Silent_p.T218T	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	232	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GGAAGCTCACCAAGCTGGAGC	0.602																																																0													41	32	35					9																	95991992		2203	4299	6502	SO:0001819	synonymous_variant	65268			AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"serologically defined colon cancer antigen 43"	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.696C>G	9.37:g.95991992C>G			Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Silent	SNP	ENST00000297954.4	37		.	.	.	.	.	.	.	.	.	.	C	8.729	0.916153	0.17907	.	.	ENSG00000165238	ENST00000432730	.	.	.	5.53	3.54	0.40534	.	.	.	.	.	T	0.53222	0.1783	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49670	-0.8915	4	.	.	.	.	5.3031	0.15790	0.1937:0.6167:0.1065:0.0831	.	.	.	.	R	228	.	.	P	+	2	0	WNK2	95031813	0.199000	0.23386	1.000000	0.80357	0.973000	0.67179	-0.382000	0.07408	1.354000	0.45846	-0.126000	0.14955	CCA		0.602	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648		G	95991992	C	G	95991992	2	3	741	1	0	0	0	0	0	0	0	1	17383	581	21	4		4	WNK2	9	95991992	Silent	SNP	C	TCGA-KN-8435-01A-11D-2310-10	26735166	95991992	45221439	34	43263											
STAM	8027	broad.mit.edu	37	10	17756602	17756603	+	In_Frame_Ins	INS	-	-	CCC			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr10:17756602_17756603insCCC	ENST00000377524.3	+	14	1661_1662	c.1446_1447insCCC	c.(1447-1449)cct>CCCcct	p.483_483P>PP	STAM_ENST00000540523.1_In_Frame_Ins_p.372_372P>PP	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	483					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						TATATAGTCCTCCTCCTGCCGC	0.47																																																0																																										SO:0001652	inframe_insertion	8027			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	Exception_encountered	10.37:g.17756602_17756603insCCC	ENSP00000366746:p.Pro484dup		B0YJ99|D3DRU5|Q8N6D9	In_Frame_Ins	INS	ENST00000377524.3	37	CCDS7122.1																																																																																				0.47	STAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047039.1	NM_003473		CCC	17756603	-	CCC	17756602	7	5	741	1	0	1	1	0	0	0	0	0	15253	1538	54	0	1500	0	STAM	10	17756602	In_Frame_Ins	INS	-	TCGA-KN-8435-01A-11D-2310-10		17756602	117778145	35	43264											
ANUBL1	93550	broad.mit.edu	37	10	46122460	46122460	+	Missense_Mutation	SNP	C	C	A			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr10:46122460C>A	ENST00000344646.5	-	7	1026	c.811G>T	c.(811-813)Gtc>Ttc	p.V271F	ZFAND4_ENST00000374371.2_Intron|ZFAND4_ENST00000374370.1_5'UTR|ZFAND4_ENST00000374366.3_Missense_Mutation_p.V197F	NM_001128324.2|NM_174890.2	NP_001121796.1|NP_777550.2	Q86XD8	ZFAN4_HUMAN	zinc finger, AN1-type domain 4	271							zinc ion binding (GO:0008270)										TTGGGGAGGACCCTTAACAAT	0.478																																																0													90	83	85					10																	46122460		2203	4300	6503	SO:0001583	missense	93550			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.811G>T	10.37:g.46122460C>A	ENSP00000339484:p.Val271Phe		A8K8V4|B2RAX2|Q5VVY5	Missense_Mutation	SNP	ENST00000344646.5	37	CCDS7214.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.293016	0.80914	.	.	ENSG00000172671	ENST00000344646;ENST00000374366;ENST00000374370	T;T	0.26373	1.74;1.75	5.47	5.47	0.80525	.	2.576260	0.02078	N	0.052100	T	0.50394	0.1613	L	0.61218	1.895	0.52099	D	0.999947	D	0.63880	0.993	P	0.55871	0.786	T	0.12528	-1.0544	10	0.44086	T	0.13	-35.2232	16.8259	0.85931	0.0:1.0:0.0:0.0	.	271	Q86XD8	ANUB1_HUMAN	F	271;197;153	ENSP00000339484:V271F;ENSP00000363486:V197F	ENSP00000339484:V271F	V	-	1	0	ANUBL1	45442466	1.000000	0.71417	0.997000	0.53966	0.747000	0.42532	3.284000	0.51708	2.574000	0.86865	0.650000	0.86243	GTC		0.478	ZFAND4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047790.1	NM_174890		A	46122460	C	A	46122460	3	1	741	1	0	0	0	0	1	0	0	0	713	507	18	4	1388	4	ANUBL1	10	46122460	Missense_Mutation	SNP	C	TCGA-KN-8435-01A-11D-2310-10	28365858	46122460	89412287	36	43265											
CHAT	1103	ucsc.edu	37	10	50827861	50827861	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr10:50827861A>G	ENST00000337653.2	+	3	631	c.478A>G	c.(478-480)Agg>Ggg	p.R160G	CHAT_ENST00000395559.2_Missense_Mutation_p.R42G|CHAT_ENST00000339797.1_Missense_Mutation_p.R42G|CHAT_ENST00000455728.2_Missense_Mutation_p.R42G|CHAT_ENST00000460699.1_3'UTR|CHAT_ENST00000351556.3_Missense_Mutation_p.R42G|CHAT_ENST00000395562.2_Missense_Mutation_p.R78G	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	160					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)	GGAGCAGTTCAGGAAGAGCCA	0.632																																																0													44	40	41					10																	50827861		2203	4300	6503	SO:0001583	missense	1103			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.478A>G	10.37:g.50827861A>G	ENSP00000337103:p.Arg160Gly		A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Missense_Mutation	SNP	ENST00000337653.2	37	CCDS7232.1	.	.	.	.	.	.	.	.	.	.	A	8.218	0.801776	0.16397	.	.	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562;ENST00000455728	D;D;D;D;D;D	0.89746	-2.56;-2.56;-2.56;-2.56;-2.56;-2.56	5.09	-4.98	0.03019	.	0.478897	0.22326	N	0.061530	D	0.82554	0.5062	L	0.39898	1.24	0.25002	N	0.991467	B;B	0.32409	0.016;0.37	B;B	0.29785	0.036;0.107	T	0.65907	-0.6054	10	0.42905	T	0.14	-7.1764	19.9976	0.97389	0.2201:0.7798:0.0:0.0	.	42;160	F8W8I2;P28329	.;CLAT_HUMAN	G	42;42;42;160;78;42	ENSP00000343486:R42G;ENSP00000345878:R42G;ENSP00000378926:R42G;ENSP00000337103:R160G;ENSP00000378929:R78G;ENSP00000390521:R42G	ENSP00000337103:R160G	R	+	1	2	CHAT	50497867	0.001000	0.12720	0.308000	0.25141	0.027000	0.11550	0.124000	0.15728	-0.730000	0.04869	-0.648000	0.03929	AGG		0.632	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549		G	50827861	A	G	50827861	3	3	741	1	0	0	0	0	1	0	0	0	3315	179	7	3	532	3	CHAT	10	50827861	Missense_Mutation	SNP	A	TCGA-KN-8435-01A-11D-2310-10	4705401	50827861	84706886	37	43266											
JAKMIP3	282973	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	10	133955457	133955457	+	Missense_Mutation	SNP	C	C	T	rs374251347		TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr10:133955457C>T	ENST00000298622.4	+	10	1645	c.1507C>T	c.(1507-1509)Cgg>Tgg	p.R503W		NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	503						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)		GCTGAGGTTCCGGCAGCTGAC	0.607																																																0								C	TRP/ARG	0,4398		0,0,2199	97	64	75		1507	1.9	1	10		75	1,8587		0,1,4293	no	missense	JAKMIP3	NM_001105521.2	101	0,1,6492	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	503/845	133955457	1,12985	2199	4294	6493	SO:0001583	missense	282973			AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"neuroendocrine long coiled-coil 2"	611198	"chromosome 10 open reading frame 39", "chromosome 10 open reading frame 14"	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.1507C>T	10.37:g.133955457C>T	ENSP00000298622:p.Arg503Trp		A6PW00|Q69YM6|Q6ZT29	Missense_Mutation	SNP	ENST00000298622.4	37	CCDS44494.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.407340	0.83230	0.0	1.16E-4	ENSG00000188385	ENST00000298622	T	0.26810	1.71	3.87	1.94	0.25998	.	0.244823	0.33092	N	0.005282	T	0.42720	0.1215	M	0.64404	1.975	0.51012	D	0.999909	D	0.89917	1.0	D	0.91635	0.999	T	0.21793	-1.0235	10	0.72032	D	0.01	-22.0753	8.153	0.31152	0.1571:0.7586:0.0:0.0844	.	503	Q5VZ66	JKIP3_HUMAN	W	503	ENSP00000298622:R503W	ENSP00000298622:R503W	R	+	1	2	JAKMIP3	133805447	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.309000	0.59135	0.405000	0.25532	0.561000	0.74099	CGG		0.607	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051049.3	NM_194303		T	133955457	C	T	133955457	3	4	741	1	0	0	0	0	1	0	0	0	7944	643	23	1	1545	1	JAKMIP3	10	133955457	Missense_Mutation	SNP	C	TCGA-KN-8435-01A-11D-2310-10	83127596	133955457	1579290	38	43267											
MUC6	4588	mdanderson.org	37	11	1018314	1018314	+	Missense_Mutation	SNP	G	G	A	rs200089063		TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr11:1018314G>A	ENST00000421673.2	-	31	4537	c.4487C>T	c.(4486-4488)aCc>aTc	p.T1496I		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1496	Pro-rich.|Thr-rich.				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)		GGCTGTGTGGGTGGACCCTGT	0.572																																																0													279	289	286					11																	1018314		2189	4269	6458	SO:0001583	missense	4588			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.4487C>T	11.37:g.1018314G>A	ENSP00000406861:p.Thr1496Ile		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	7.706	0.694199	0.15039	.	.	ENSG00000184956	ENST00000421673	T	0.20738	2.05	2.45	2.45	0.29901	.	.	.	.	.	T	0.26159	0.0638	L	0.59436	1.845	0.09310	N	1	D	0.54964	0.969	P	0.47162	0.54	T	0.08617	-1.0713	9	0.37606	T	0.19	.	11.017	0.47696	0.0:0.0:1.0:0.0	.	1496	Q6W4X9	MUC6_HUMAN	I	1496	ENSP00000406861:T1496I	ENSP00000406861:T1496I	T	-	2	0	MUC6	1008314	0.042000	0.20092	0.002000	0.10522	0.024000	0.10985	0.803000	0.27083	1.326000	0.45319	0.313000	0.20887	ACC		0.572	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		A	1018314	G	A	1018314	3	1	741	1	0	0	0	0	1	0	0	0	9982	1261	44	2	2844	2	MUC6	11	1018314	Missense_Mutation	SNP	G	TCGA-KN-8435-01A-11D-2310-10		1018314	133988202	39	43268											
KRTAP5-2	440021	mdanderson.org	37	11	1619368	1619368	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr11:1619368C>T	ENST00000412090.1	-	1	156	c.113G>A	c.(112-114)tGt>tAt	p.C38Y	KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN	keratin associated protein 5-2	38						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)		GCCAGAGCCACAGCCCCCACG	0.687																																																0													31	39	36					11																	1619368		2173	4229	6402	SO:0001583	missense	440021			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.113G>A	11.37:g.1619368C>T	ENSP00000400041:p.Cys38Tyr		A9JTZ1	Missense_Mutation	SNP	ENST00000412090.1	37	CCDS31331.1	.	.	.	.	.	.	.	.	.	.	-	11.10	1.540016	0.27563	.	.	ENSG00000205867	ENST00000412090	T	0.01178	5.22	.	.	.	.	.	.	.	.	T	0.01800	0.0057	L	0.46157	1.445	0.21915	N	0.999477	.	.	.	.	.	.	T	0.45585	-0.9251	5	0.87932	D	0	.	.	.	.	.	38	Q701N4	KRA52_HUMAN	Y	38	ENSP00000400041:C38Y	ENSP00000400041:C38Y	C	-	2	0	KRTAP5-2	1575944	0.976000	0.34144	0.670000	0.29842	0.641000	0.38312	3.989000	0.56958	0.000000	0.14550	0.000000	0.15137	TGT		0.687	KRTAP5-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384775.1	NM_001004325		T	1619368	C	T	1619368	3	4	741	1	0	0	0	0	1	0	0	0	8563	478	17	2	424	2	KRTAP5-2	11	1619368	Missense_Mutation	SNP	C	TCGA-KN-8435-01A-11D-2310-10	601054	1619368	133387148	40	43269											
OR6A2	8590	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	11	6816462	6816462	+	Missense_Mutation	SNP	T	T	G			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr11:6816462T>G	ENST00000332601.3	-	1	666	c.478A>C	c.(478-480)Atc>Ctc	p.I160L		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	160					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ACCATGGAGATGCCAAAACCT	0.502																																																0													91	89	89					11																	6816462		2201	4296	6497	SO:0001583	missense	8590			AB065822	CCDS7772.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184933	ENSG00000184933		"GPCR / Class A : Olfactory receptors"	15301	protein-coding gene	gene with protein product		608495		OR6A2P, OR6A1			Standard	NM_003696		Approved	OR11-55	uc001mes.1	O95222	OTTHUMG00000165736	ENST00000332601.3:c.478A>C	11.37:g.6816462T>G	ENSP00000330384:p.Ile160Leu		Q3MJC7|Q6IF35|Q9H206	Missense_Mutation	SNP	ENST00000332601.3	37	CCDS7772.1	.	.	.	.	.	.	.	.	.	.	T	18.05	3.538105	0.65085	.	.	ENSG00000184933	ENST00000332601	T	0.35236	1.32	5.07	2.75	0.32379	GPCR, rhodopsin-like superfamily (1);	0.220980	0.31246	N	0.007994	T	0.28167	0.0695	N	0.21324	0.655	0.27374	N	0.955607	P	0.45569	0.861	P	0.51918	0.684	T	0.11616	-1.0580	10	0.10902	T	0.67	.	6.5696	0.22531	0.0:0.2741:0.0:0.7259	.	160	O95222	OR6A2_HUMAN	L	160	ENSP00000330384:I160L	ENSP00000330384:I160L	I	-	1	0	OR6A2	6773038	0.000000	0.05858	0.973000	0.42090	0.965000	0.64279	-0.619000	0.05572	0.503000	0.28060	0.533000	0.62120	ATC		0.502	OR6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385981.1	NM_003696		G	6816462	T	G	6816462	3	3	741	1	0	0	0	0	1	0	0	0	11188	1464	51	5	509	5	OR6A2	11	6816462	Missense_Mutation	SNP	T	TCGA-KN-8435-01A-11D-2310-10	5197094	6816462	128190054	41	43270											
OR1S1	219959	broad.mit.edu;mdanderson.org	37	11	57982414	57982414	+	Silent	SNP	G	G	A	rs386753888|rs111386724	byFrequency	TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr11:57982414G>A	ENST00000309433.6	+	1	198	c.198G>A	c.(196-198)acG>acA	p.T66T		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	66						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T66T(1)		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)				GCTTGGATACGTACCTTCATA	0.443													G|||	4	0.000798722	0.0008	0.0	5008	,	,		20373	0.0		0.003	False		,,,				2504	0.0															1	Substitution - coding silent(1)	endometrium(1)						G		2,4400	4.2+/-10.8	0,2,2199	327	300	309		198	-6.9	0	11	dbSNP_132	309	22,8570	16.0+/-53.3	0,22,4274	no	coding-synonymous	OR1S1	NM_001004458.1		0,24,6473	AA,AG,GG		0.2561,0.0454,0.1847		66/326	57982414	24,12970	2201	4296	6497	SO:0001819	synonymous_variant	219959			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.198G>A	11.37:g.57982414G>A			Q6IFG3	Silent	SNP	ENST00000309433.6	37	CCDS31546.1																																																																																				0.443	OR1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394705.1	NM_001004458		A	57982414	G	A	57982414	2	1	741	1	0	0	0	0	0	0	0	1	10974	1132	40	1		1	OR1S1	11	57982414	Silent	SNP	G	TCGA-KN-8435-01A-11D-2310-10	51165952	57982414	77024102	42	43271											
KRTAP5-10	387273	mdanderson.org	37	11	71276876	71276876	+	Silent	SNP	A	A	G	rs12788123		TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr11:71276876A>G	ENST00000398531.1	+	1	268	c.243A>G	c.(241-243)aaA>aaG	p.K81K	KRTAP5-10_ENST00000376536.4_Intron	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	81	7 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)		p.K81K(1)		endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						GGGGCTCCAAAGGGGGCTGTG	0.682																																																1	Substitution - coding silent(1)	endometrium(1)											51	72	65					11																	71276876		2140	4257	6397	SO:0001819	synonymous_variant	387273			AB126079	CCDS41684.1	11q13.4	2008-02-05			ENSG00000204572	ENSG00000204572		"Keratin associated proteins"	23605	protein-coding gene	gene with protein product						15144888	Standard	NM_001012710		Approved	KRTAP5.10	uc001oqt.1	Q6L8G5	OTTHUMG00000057585	ENST00000398531.1:c.243A>G	11.37:g.71276876A>G			B9EHA4	Silent	SNP	ENST00000398531.1	37	CCDS41684.1																																																																																				0.682	KRTAP5-10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000127968.2			G	71276876	A	G	71276876	2	3	741	1	0	0	0	0	0	0	0	1	8561	69	3	3		3	KRTAP5-10	11	71276876	Silent	SNP	A	TCGA-KN-8435-01A-11D-2310-10	13294462	71276876	63729640	43	43272											
ATM	472	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	11	108126988	108126988	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr11:108126988G>T	ENST00000452508.2	+	15	2360	c.2171G>T	c.(2170-2172)gGt>gTt	p.G724V	ATM_ENST00000278616.4_Missense_Mutation_p.G724V			Q13315	ATM_HUMAN	ATM serine/threonine kinase	724					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)	CTTTTGGTGGGTGTCCTTGGC	0.328			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	0													101	98	99					11																	108126988		2201	4298	6499	SO:0001583	missense	472	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.2171G>T	11.37:g.108126988G>T	ENSP00000388058:p.Gly724Val		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.908296	0.72868	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	T;T;T	0.77358	-1.09;-1.09;-1.09	5.45	4.54	0.55810	Armadillo-type fold (1);	0.053429	0.85682	D	0.000000	D	0.85643	0.5744	M	0.69823	2.125	0.58432	D	0.999999	D	0.69078	0.997	D	0.64687	0.928	D	0.86131	0.1575	10	0.46703	T	0.11	.	14.6376	0.68702	0.0705:0.0:0.9295:0.0	.	724	Q13315	ATM_HUMAN	V	724	ENSP00000435747:G724V;ENSP00000278616:G724V;ENSP00000388058:G724V	ENSP00000278616:G724V	G	+	2	0	ATM	107632198	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.760000	0.68793	1.432000	0.47375	0.557000	0.71058	GGT		0.328	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		T	108126988	G	T	108126988	3	4	741	1	0	0	0	0	1	0	0	0	1109	1261	44	4	2221	4	ATM	11	108126988	Missense_Mutation	SNP	G	TCGA-KN-8435-01A-11D-2310-10	36850112	108126988	26879528	44	43273											
SIK2	23235	broad.mit.edu	37	11	111594331	111594332	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr11:111594331_111594332insC	ENST00000304987.3	+	15	2432_2433	c.2259_2260insC	c.(2260-2262)cccfs	p.P754fs		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	754					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						AGCTGCCCCTTCCCCGCCAGGA	0.589																																																0																																										SO:0001589	frameshift_variant	23235			AB018324	CCDS8347.1	11q23.1	2008-12-23	2008-12-23	2008-12-23	ENSG00000170145	ENSG00000170145			21680	protein-coding gene	gene with protein product		608973	"SNF1-like kinase 2"	SNF1LK2		15067358	Standard	NM_015191		Approved	KIAA0781, QIK, DKFZp434K1115, LOH11CR1I	uc001plt.3	Q9H0K1	OTTHUMG00000150644	ENST00000304987.3:c.2263dupC	11.37:g.111594335_111594335dupC	ENSP00000305976:p.Pro754fs		A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	Frame_Shift_Ins	INS	ENST00000304987.3	37	CCDS8347.1																																																																																				0.589	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319352.3	NM_015191		C	111594332	-	C	111594331	7	5	741	1	0	1	1	0	0	0	0	0	14324	1770	62	0	2317	0	SIK2	11	111594331	Frame_Shift_Ins	INS	-	TCGA-KN-8435-01A-11D-2310-10	3467343	111594331	23412185	45	43274											
ALG9	79796	mdanderson.org	37	11	111657129	111657129	+	Missense_Mutation	SNP	C	C	T	rs370840671		TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr11:111657129C>T	ENST00000531154.1	-	15	1808	c.1336G>A	c.(1336-1338)Gga>Aga	p.G446R	ALG9_ENST00000398006.2_Missense_Mutation_p.G439R|ALG9_ENST00000524880.1_3'UTR|ALG9_ENST00000527228.1_5'UTR	NM_024740.2	NP_079016.2	Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase	610					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)|membrane (GO:0016020)	dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0052926)|dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0052918)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-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;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		TGCTAACCTCCACTTTTCTTC	0.468																																																0								C	ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY	0,3976		0,0,1988	277	272	274		1829,1336,1315,1850	3.9	1	11		274	1,8321		0,1,4160	no	missense,missense,missense,missense	ALG9	NM_001077690.1,NM_001077691.1,NM_001077692.1,NM_024740.2	125,125,125,125	0,1,6148	TT,TC,CC		0.012,0.0,0.0081	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	610/612,446/448,439/441,617/619	111657129	1,12297	1988	4161	6149	SO:0001583	missense	79796				CCDS41714.1, CCDS53709.1, CCDS73379.1, CCDS73380.1	11q23	2013-02-26	2013-02-26	2004-08-26	ENSG00000086848	ENSG00000086848	2.4.1.259, 2.4.1.261	"Dolichyl D-mannosyl phosphate dependent mannosyltransferases"	15672	protein-coding gene	gene with protein product	"dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase", "dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase", "dol-P-Man dependent alpha-1,2-mannosyltransferase"	606941	"disrupted in bipolar affective disorder 1", "asparagine-linked glycosylation 9 homolog (yeast, alpha 1,2 mannosyltransferase)", "asparagine-linked glycosylation 9, alpha- 1,2-mannosyltransferase homolog (S. cerevisiae, alpha- 1,2-mannosyltransferase)", "asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog (S. cerevisiae)"	DIBD1		12030331, 15148656	Standard	NM_024740		Approved		uc021qql.1	Q9H6U8	OTTHUMG00000166819	ENST00000531154.1:c.1336G>A	11.37:g.111657129C>T	ENSP00000435517:p.Gly446Arg		Q6ZMD5|Q7Z4R4|Q96GS7|Q96PB9|Q9H068	Missense_Mutation	SNP	ENST00000531154.1	37	CCDS41714.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.005992	0.74932	0.0	1.2E-4	ENSG00000086848	ENST00000531154;ENST00000398006;ENST00000428306	T;T	0.14022	2.54;2.54	5.87	3.9	0.45041	.	0.229782	0.45867	N	0.000334	T	0.11367	0.0277	N	0.22421	0.69	0.39048	D	0.960263	P;B	0.48016	0.904;0.005	P;B	0.45829	0.494;0.008	T	0.06110	-1.0845	10	0.72032	D	0.01	-6.6827	8.4076	0.32625	0.1537:0.767:0.0:0.0793	.	617;610	Q9H6U8-3;Q9H6U8	.;ALG9_HUMAN	R	446;439;843	ENSP00000435517:G446R;ENSP00000381090:G439R	ENSP00000381090:G439R	G	-	1	0	ALG9	111162339	0.938000	0.31826	0.987000	0.45799	0.996000	0.88848	2.670000	0.46833	1.633000	0.50488	0.655000	0.94253	GGA		0.468	ALG9-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000391485.1	NM_024740		T	111657129	C	T	111657129	3	4	741	1	0	0	0	0	1	0	0	0	524	603	21	2	11	2	ALG9	11	111657129	Missense_Mutation	SNP	C	TCGA-KN-8435-01A-11D-2310-10	62798	111657129	23349387	46	43275											
KCNA6	3742	mdanderson.org	37	12	4920387	4920387	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr12:4920387G>A	ENST00000280684.3	+	1	2046	c.1180G>A	c.(1180-1182)Gtc>Atc	p.V394I	RP11-234B24.4_ENST00000542988.1_lincRNA|KCNA6_ENST00000433855.1_Missense_Mutation_p.V394I			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	394					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)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	CTCCAGTGCCGTCTACTTCGC	0.582										HNSCC(72;0.22)																																						0													118	100	106					12																	4920387		2203	4300	6503	SO:0001583	missense	3742			X17622	CCDS8534.1	12p13	2014-06-12						"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6225	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 96"	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.1180G>A	12.37:g.4920387G>A	ENSP00000280684:p.Val394Ile			Missense_Mutation	SNP	ENST00000280684.3	37	CCDS8534.1	.	.	.	.	.	.	.	.	.	.	G	19.48	3.836332	0.71373	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	D;D	0.97303	-4.33;-4.33	5.18	5.18	0.71444	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.94555	0.8246	N	0.20304	0.555	0.58432	D	0.999999	P	0.50443	0.935	P	0.46362	0.514	D	0.94785	0.7957	10	0.48119	T	0.1	.	17.8587	0.88775	0.0:0.0:1.0:0.0	.	394	P17658	KCNA6_HUMAN	I	394	ENSP00000408321:V394I;ENSP00000280684:V394I	ENSP00000280684:V394I	V	+	1	0	KCNA6	4790648	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	9.495000	0.97964	2.688000	0.91661	0.655000	0.94253	GTC		0.582	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	NM_002235		A	4920387	G	A	4920387	3	1	741	1	0	0	0	0	1	0	0	0	8009	1145	40	1	1182	1	KCNA6	12	4920387	Missense_Mutation	SNP	G	TCGA-KN-8435-01A-11D-2310-10		4920387	128931508	47	43276											
PRB2	653247	mdanderson.org	37	12	11546634	11546634	+	Silent	SNP	G	G	A			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr12:11546634G>A	ENST00000389362.4	-	3	413	c.378C>T	c.(376-378)ggC>ggT	p.G126G	PRB2_ENST00000545829.1_5'Flank|PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	126	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GAGGCTGGTTGCCTCCTTGTG	0.607																																																0													301	284	290					12																	11546634		2203	4300	6503	SO:0001819	synonymous_variant	653247			K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.378C>T	12.37:g.11546634G>A			O00599|P02811|P04281	Silent	SNP	ENST00000389362.4	37	CCDS41757.2																																																																																				0.607	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		A	11546634	G	A	11546634	2	1	741	1	0	0	0	0	0	0	0	1	12448	1306	46	2		2	PRB2	12	11546634	Silent	SNP	G	TCGA-KN-8435-01A-11D-2310-10	6626247	11546634	122305261	48	43277											
LRRK2	120892	hgsc.bcm.edu	37	12	40707951	40707951	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr12:40707951G>A	ENST00000298910.7	+	32	4772	c.4714G>A	c.(4714-4716)Gca>Aca	p.A1572T	LRRK2_ENST00000481256.1_3'UTR	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1572					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)	p.A1572T(2)		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)				GCTTCCTCACGCAGTTCACTT	0.338																																																2	Substitution - Missense(2)	ovary(2)											67	57	60					12																	40707951		2203	4299	6502	SO:0001583	missense	120892			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.4714G>A	12.37:g.40707951G>A	ENSP00000298910:p.Ala1572Thr		A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	G	32	5.146199	0.94603	.	.	ENSG00000188906	ENST00000298910	T	0.79247	-1.25	5.83	5.83	0.93111	.	0.055971	0.64402	D	0.000001	D	0.88614	0.6484	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.68943	0.945;0.961	D	0.88885	0.3342	10	0.72032	D	0.01	.	20.1099	0.97909	0.0:0.0:1.0:0.0	.	1572;1572	Q17RV3;Q5S007	.;LRRK2_HUMAN	T	1572	ENSP00000298910:A1572T	ENSP00000298910:A1572T	A	+	1	0	LRRK2	38994218	1.000000	0.71417	0.995000	0.50966	0.818000	0.46254	8.984000	0.93482	2.753000	0.94483	0.585000	0.79938	GCA		0.338	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		A	40707951	G	A	40707951	3	1	741	1	0	0	0	0	1	0	0	0	9035	1087	38	1	4840	1	LRRK2	12	40707951	Missense_Mutation	SNP	G	TCGA-KN-8435-01A-11D-2310-10	29161317	40707951	93143944	49	43278											
COL2A1	1280	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	48379322	48379322	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr12:48379322G>A	ENST00000380518.3	-	26	1893	c.1729C>T	c.(1729-1731)Cct>Tct	p.P577S	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.P508S	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	577	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)	CTTACAGAAGGGCCAACTTTG	0.597																																																0													116	124	121					12																	48379322		2203	4300	6503	SO:0001583	missense	1280			X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"Collagens"	2200	protein-coding gene	gene with protein product		120140	"collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)", "arthroophthalmopathy, progressive (Stickler syndrome)"	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.1729C>T	12.37:g.48379322G>A	ENSP00000369889:p.Pro577Ser		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_Mutation	SNP	ENST00000380518.3	37	CCDS41778.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.280839	0.80692	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	D;D	0.96587	-4.06;-4.06	5.05	5.05	0.67936	.	0.065251	0.64402	D	0.000009	D	0.97558	0.9200	L	0.61387	1.9	0.54753	D	0.999984	D;D	0.59357	0.985;0.975	D;P	0.74674	0.984;0.894	D	0.97810	1.0250	10	0.56958	D	0.05	.	17.3421	0.87299	0.0:0.0:1.0:0.0	.	508;577	P02458-1;P02458	.;CO2A1_HUMAN	S	577;508;508	ENSP00000369889:P577S;ENSP00000338213:P508S	ENSP00000338213:P508S	P	-	1	0	COL2A1	46665589	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.508000	0.53378	2.629000	0.89072	0.609000	0.83330	CCT		0.597	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844		A	48379322	G	A	48379322	3	1	741	1	0	0	0	0	1	0	0	0	3689	1232	43	2	2850	2	COL2A1	12	48379322	Missense_Mutation	SNP	G	TCGA-KN-8435-01A-11D-2310-10	7671371	48379322	85472573	50	43279											
ZCCHC8	55596	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	12	122958438	122958438	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr12:122958438G>A	ENST00000336229.4	-	14	1860	c.1730C>T	c.(1729-1731)aCg>aTg	p.T577M	ZCCHC8_ENST00000543897.1_Missense_Mutation_p.T339M|ZCCHC8_ENST00000536306.1_Missense_Mutation_p.T339M|ZCCHC8_ENST00000538116.1_Missense_Mutation_p.T188M	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	577					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		CTCATCCAGCGTCTGCTTTTC	0.488																																																0													213	208	210					12																	122958438		1953	4156	6109	SO:0001583	missense	55596			BC017704		12q24.31	2014-04-14				ENSG00000033030		"Zinc fingers, CCHC domain containing"	25265	protein-coding gene	gene with protein product						12477932	Standard	XM_005253581		Approved	DKFZp434E2220	uc001ucn.3	Q6NZY4		ENST00000336229.4:c.1730C>T	12.37:g.122958438G>A	ENSP00000337313:p.Thr577Met		Q7L2P6|Q8N2K5|Q96SK7|Q9NSS2|Q9NSS3	Missense_Mutation	SNP	ENST00000336229.4	37		.	.	.	.	.	.	.	.	.	.	G	9.946	1.218896	0.22373	.	.	ENSG00000033030	ENST00000536306;ENST00000543897;ENST00000336229;ENST00000538116	T;T;T;T	0.44482	0.93;0.93;0.93;0.92	5.72	-7.32	0.01436	.	2.565100	0.00904	N	0.002393	T	0.18215	0.0437	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.08166	-1.0735	10	0.36615	T	0.2	2.2068	2.1954	0.03909	0.2269:0.1934:0.373:0.2067	.	577	Q6NZY4	ZCHC8_HUMAN	M	339;339;577;188	ENSP00000441423:T339M;ENSP00000438993:T339M;ENSP00000337313:T577M;ENSP00000440028:T188M	ENSP00000337313:T577M	T	-	2	0	ZCCHC8	121524391	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	-0.623000	0.05546	-1.273000	0.02424	-0.334000	0.08254	ACG		0.488	ZCCHC8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017612		A	122958438	G	A	122958438	3	1	741	1	0	0	0	0	1	0	0	0	17599	1145	40	1	397	1	ZCCHC8	12	122958438	Missense_Mutation	SNP	G	TCGA-KN-8435-01A-11D-2310-10	74579116	122958438	10893457	51	43280											
C14orf135	64430	broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	60585201	60585201	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr14:60585201T>C	ENST00000406854.1	+	7	2287	c.1733T>C	c.(1732-1734)gTc>gCc	p.V578A	PCNXL4_ENST00000406949.1_Missense_Mutation_p.V344A|PCNXL4_ENST00000535349.1_5'UTR|PCNXL4_ENST00000404681.2_Missense_Mutation_p.V578A|PCNXL4_ENST00000317623.4_Missense_Mutation_p.V344A			Q63HM2	PCX4_HUMAN	pecanex-like 4 (Drosophila)	578						integral component of membrane (GO:0016021)											TTCGTGTTGGTCATCATAGTT	0.428																																																0													128	126	126					14																	60585201		2203	4300	6503	SO:0001583	missense	64430			AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773			20349	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 135"	C14orf135			Standard	NM_022495		Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.1733T>C	14.37:g.60585201T>C	ENSP00000384801:p.Val578Ala		A8MXM2|Q9BQG8|Q9H9F2	Missense_Mutation	SNP	ENST00000406854.1	37		.	.	.	.	.	.	.	.	.	.	T	4.317	0.058181	0.08339	.	.	ENSG00000126773	ENST00000317623;ENST00000406854;ENST00000406949;ENST00000404681	T;T;T;T	0.20881	2.04;2.06;2.08;2.06	6.0	3.61	0.41365	.	.	.	.	.	T	0.10895	0.0266	N	0.13098	0.295	0.20074	N	0.999932	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.38023	-0.9680	9	0.18276	T	0.48	.	6.4521	0.21910	0.0:0.1295:0.2441:0.6264	.	578;344	Q63HM2;B5MC47	CN135_HUMAN;.	A	344;578;344;578	ENSP00000317396:V344A;ENSP00000384801:V578A;ENSP00000385201:V344A;ENSP00000385713:V578A	ENSP00000317396:V344A	V	+	2	0	C14orf135	59654954	0.089000	0.21612	0.043000	0.18650	0.294000	0.27393	0.458000	0.21892	0.493000	0.27837	-0.263000	0.10527	GTC		0.428	PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000317847.1	NM_022495		C	60585201	T	C	60585201	3	2	741	1	0	0	0	0	1	0	0	0	1747	1667	58	3	1049	3	C14orf135	14	60585201	Missense_Mutation	SNP	T	TCGA-KN-8435-01A-11D-2310-10		60585201	46764339	52	43281											
RTL1	388015	broad.mit.edu	37	14	101347140	101347141	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr14:101347140_101347141insC	ENST00000534062.1	-	1	4043_4044	c.3985_3986insG	c.(3985-3987)gccfs	p.A1329fs	MIR127_ENST00000384876.1_RNA|MIR431_ENST00000385266.1_RNA|MIR433_ENST00000384837.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	1329					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						GATGGGCAGGGCCCGCCTGTAG	0.649																																																0																																										SO:0001589	frameshift_variant	388015				CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.3986dupG	14.37:g.101347143_101347143dupC	ENSP00000435342:p.Ala1329fs		E9PKS8	Frame_Shift_Ins	INS	ENST00000534062.1	37	CCDS53910.1																																																																																				0.649	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395127.1	NM_001134888		C	101347141	-	C	101347140	7	5	741	1	0	1	1	0	0	0	0	0	13730	1203	42	0	94	0	RTL1	14	101347140	Frame_Shift_Ins	INS	-	TCGA-KN-8435-01A-11D-2310-10	40761939	101347140	6002400	53	43282											
EIF5	1983	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	14	103802243	103802243	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr14:103802243T>C	ENST00000216554.3	+	3	722	c.46T>C	c.(46-48)Tac>Cac	p.Y16H	EIF5_ENST00000560200.1_3'UTR|EIF5_ENST00000392715.2_Missense_Mutation_p.Y16H|EIF5_ENST00000558506.1_Missense_Mutation_p.Y16H|SNORA28_ENST00000606769.1_RNA	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	16					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)			GTTCTATCGCTACAAGATGCC	0.388																																																0													152	142	146					14																	103802243		2203	4300	6503	SO:0001583	missense	1983			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.46T>C	14.37:g.103802243T>C	ENSP00000216554:p.Tyr16His		Q53XB3|Q9H5N2|Q9UG48	Missense_Mutation	SNP	ENST00000216554.3	37	CCDS9980.1	.	.	.	.	.	.	.	.	.	.	.	27.2	4.806994	0.90623	.	.	ENSG00000100664	ENST00000216554;ENST00000392715	T;T	0.47528	0.84;0.84	5.79	5.79	0.91817	Translation initiation factor IF2/IF5, N-terminal (1);Translation initiation factor IF2/IF5 (2);	0.000000	0.85682	D	0.000000	T	0.78426	0.4281	H	0.95917	3.74	0.80722	D	1	B	0.29136	0.234	P	0.51297	0.665	T	0.81433	-0.0935	10	0.87932	D	0	.	16.1805	0.81895	0.0:0.0:0.0:1.0	.	16	P55010	IF5_HUMAN	H	16	ENSP00000216554:Y16H;ENSP00000376477:Y16H	ENSP00000216554:Y16H	Y	+	1	0	EIF5	102871996	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.831000	0.86748	2.221000	0.72209	0.529000	0.55759	TAC		0.388	EIF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415329.2	NM_001969		C	103802243	T	C	103802243	3	2	741	1	0	0	0	0	1	0	0	0	5042	1522	53	3	48	3	EIF5	14	103802243	Missense_Mutation	SNP	T	TCGA-KN-8435-01A-11D-2310-10	2455103	103802243	3547297	54	43283											
SLC28A2	9153	broad.mit.edu	37	15	45556950	45556951	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr15:45556950_45556951insG	ENST00000347644.3	+	7	751_752	c.686_687insG	c.(685-690)ctgggafs	p.LG229fs	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	229					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)	TTTCAGTGGCTGGGAGAGCAGG	0.446																																					NSCLC(92;493 1501 26361 28917 47116)											0																																										SO:0001589	frameshift_variant	9153			U84392	CCDS10121.1	15q15	2013-07-17	2013-07-17		ENSG00000137860	ENSG00000137860		"Solute carriers"	11002	protein-coding gene	gene with protein product		606208	"solute carrier family 28 (sodium-coupled nucleoside transporter), member 2"			9435697	Standard	NM_004212		Approved	CNT2, SPNT1, HCNT2, HsT17153	uc001zva.2	O43868	OTTHUMG00000131426	ENST00000347644.3:c.689dupG	15.37:g.45556953_45556953dupG	ENSP00000315006:p.Leu229fs		A8K7F9|O43239|Q52LZ0	Frame_Shift_Ins	INS	ENST00000347644.3	37	CCDS10121.1																																																																																				0.446	SLC28A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254219.2	NM_004212		G	45556951	-	G	45556950	7	5	741	1	0	1	1	0	0	0	0	0	14538	1580	55	0	708	0	SLC28A2	15	45556950	Frame_Shift_Ins	INS	-	TCGA-KN-8435-01A-11D-2310-10		45556950	56974442	55	43284											
ISLR	3671	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	15	74467546	74467546	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr15:74467546G>T	ENST00000249842.3	+	2	704	c.347G>T	c.(346-348)aGc>aTc	p.S116I	RP11-665J16.1_ENST00000561647.1_RNA|ISLR_ENST00000395118.1_Missense_Mutation_p.S116I	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	116					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						TTTGCCTGGAGCGACCTGCAC	0.617																																																0													82	79	80					15																	74467546		2198	4297	6495	SO:0001583	missense	3671			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.347G>T	15.37:g.74467546G>T	ENSP00000249842:p.Ser116Ile			Missense_Mutation	SNP	ENST00000249842.3	37	CCDS10260.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.504498	0.44558	.	.	ENSG00000129009	ENST00000249842;ENST00000395118	T;T	0.55588	0.51;0.51	4.05	1.59	0.23543	.	0.623254	0.13676	U	0.370522	T	0.51329	0.1668	M	0.72118	2.19	0.26664	N	0.971856	P	0.39601	0.68	B	0.41412	0.356	T	0.43376	-0.9395	10	0.42905	T	0.14	.	8.0656	0.30659	0.1519:0.1641:0.684:0.0	.	116	O14498	ISLR_HUMAN	I	116	ENSP00000249842:S116I;ENSP00000378550:S116I	ENSP00000249842:S116I	S	+	2	0	ISLR	72254599	0.991000	0.36638	1.000000	0.80357	0.984000	0.73092	1.728000	0.38105	0.659000	0.30945	0.313000	0.20887	AGC		0.617	ISLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269044.1	NM_005545		T	74467546	G	T	74467546	3	4	741	1	0	0	0	0	1	0	0	0	7860	971	34	4	349	4	ISLR	15	74467546	Missense_Mutation	SNP	G	TCGA-KN-8435-01A-11D-2310-10	28910596	74467546	28063846	56	43285											
VASN	114990	broad.mit.edu	37	16	4431910	4431910	+	Silent	SNP	C	C	T	rs200909451	byFrequency	TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr16:4431910C>T	ENST00000304735.3	+	2	1187	c.1032C>T	c.(1030-1032)taC>taT	p.Y344Y	CORO7_ENST00000537233.2_Intron|CORO7_ENST00000423908.2_Intron|CORO7_ENST00000539968.1_Intron|CORO7-PAM16_ENST00000572467.1_Intron|CORO7_ENST00000574025.1_Intron|CORO7_ENST00000251166.4_Intron	NM_138440.2	NP_612449.2	Q6EMK4	VASN_HUMAN	vasorin	344	LRRCT.				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						AGCTTGACTACGCCGACTTTG	0.672													C|||	3	0.000599042	0.0	0.0	5008	,	,		13672	0.002		0.001	False		,,,				2504	0.0															0													19	21	20					16																	4431910		2186	4290	6476	SO:0001819	synonymous_variant	114990			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.1032C>T	16.37:g.4431910C>T			Q6UXL4|Q6UXL5|Q96CX1	Silent	SNP	ENST00000304735.3	37	CCDS10514.1																																																																																				0.672	VASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251632.1	NM_138440		T	4431910	C	T	4431910	2	4	741	1	0	0	0	0	0	0	0	1	17132	547	19	1		1	VASN	16	4431910	Silent	SNP	C	TCGA-KN-8435-01A-11D-2310-10		4431910	85922843	57	43286											
CCDC144NL	339184	mdanderson.org	37	17	20768816	20768816	+	Missense_Mutation	SNP	C	C	T	rs73298040	byFrequency	TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr17:20768816C>T	ENST00000327925.5	-	4	697	c.578G>A	c.(577-579)tGt>tAt	p.C193Y	RP11-344E13.3_ENST00000577537.1_RNA|RP11-344E13.3_ENST00000439794.2_RNA|CCDC144NL_ENST00000539484.1_5'UTR	NM_001004306.1	NP_001004306.1	Q6NUI1	C144L_HUMAN	coiled-coil domain containing 144 family, N-terminal like	193										large_intestine(3)|lung(3)|skin(1)	7						ATGCAGATGACAATACTCTTG	0.363																																																0													75	69	71					17																	20768816		2203	4300	6503	SO:0001583	missense	339184				CCDS32591.1	17p11.2	2009-01-15			ENSG00000205212	ENSG00000205212			33735	protein-coding gene	gene with protein product							Standard	NM_001004306		Approved	MGC87631	uc002gyf.3	Q6NUI1	OTTHUMG00000132271	ENST00000327925.5:c.578G>A	17.37:g.20768816C>T	ENSP00000328054:p.Cys193Tyr			Missense_Mutation	SNP	ENST00000327925.5	37	CCDS32591.1	.	.	.	.	.	.	.	.	.	.	c	0.024	-1.390208	0.01185	.	.	ENSG00000205212	ENST00000327925	T	0.18502	2.21	.	.	.	.	.	.	.	.	T	0.11879	0.0289	N	0.08118	0	0.09310	N	1	P	0.42518	0.782	P	0.48738	0.588	T	0.23476	-1.0187	7	0.87932	D	0	.	.	.	.	.	193	Q6NUI1	C144L_HUMAN	Y	193	ENSP00000328054:C193Y	ENSP00000328054:C193Y	C	-	2	0	CCDC144NL	20709408	0.181000	0.23161	0.041000	0.18516	0.041000	0.13682	0.076000	0.14712	0.088000	0.17205	0.089000	0.15464	TGT		0.363	CCDC144NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255361.2	NM_001004306		T	20768816	C	T	20768816	3	4	741	1	0	0	0	0	1	0	0	0	2781	478	17	2	91	2	CCDC144NL	17	20768816	Missense_Mutation	SNP	C	TCGA-KN-8435-01A-11D-2310-10		20768816	60426394	58	43287											
TMIGD1	388364	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	17	28656457	28656457	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr17:28656457T>C	ENST00000328886.4	-	3	245	c.173A>G	c.(172-174)aAc>aGc	p.N58S	TMIGD1_ENST00000538566.2_Missense_Mutation_p.N58S	NM_206832.1	NP_996663.1	Q6UXZ0	TMIG1_HUMAN	transmembrane and immunoglobulin domain containing 1	58	Ig-like C2-type 1.					integral component of membrane (GO:0016021)				breast(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	12						TCTGGTGTGGTTTTGAACAGC	0.448																																																0													108	98	102					17																	28656457		2203	4300	6503	SO:0001583	missense	388364			AY358153	CCDS32605.1	17q11.2	2013-01-29	2006-07-05	2006-07-05		ENSG00000182271		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	32431	protein-coding gene	gene with protein product				TMIGD		12975309	Standard	NM_206832		Approved	UNQ9372	uc002hfa.1	Q6UXZ0		ENST00000328886.4:c.173A>G	17.37:g.28656457T>C	ENSP00000332404:p.Asn58Ser		A8K2K1|Q6ZMC6	Missense_Mutation	SNP	ENST00000328886.4	37	CCDS32605.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.250385	0.80024	.	.	ENSG00000182271	ENST00000328886;ENST00000538566	T;T	0.13657	2.57;2.57	5.44	5.44	0.79542	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.195565	0.53938	D	0.000050	T	0.37019	0.0988	M	0.71581	2.175	0.44241	D	0.997081	D;D	0.89917	1.0;0.989	D;P	0.85130	0.997;0.9	T	0.10613	-1.0622	10	0.56958	D	0.05	-21.8761	14.6668	0.68915	0.0:0.0:0.0:1.0	.	58;58	Q6UXZ0-2;Q6UXZ0	.;TMIG1_HUMAN	S	58	ENSP00000332404:N58S;ENSP00000446118:N58S	ENSP00000332404:N58S	N	-	2	0	TMIGD1	25680583	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.190000	0.65104	2.058000	0.61347	0.472000	0.43445	AAC		0.448	TMIGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447955.1	NM_206832		C	28656457	T	C	28656457	3	2	741	1	0	0	0	0	1	0	0	0	16235	1725	60	3	635	3	TMIGD1	17	28656457	Missense_Mutation	SNP	T	TCGA-KN-8435-01A-11D-2310-10	7887641	28656457	52538753	59	43288											
C17orf98	388381	ucsc.edu	37	17	36997606	36997606	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr17:36997606T>C	ENST00000398575.4	-	1	102	c.37A>G	c.(37-39)Aaa>Gaa	p.K13E		NM_001080465.2	NP_001073934.1	A8MV24	CQ098_HUMAN	chromosome 17 open reading frame 98	13										endometrium(5)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(3)	14						ATAAAGCCTTTCTCCAGTCGC	0.642																																																0													39	42	41					17																	36997606		2036	4204	6240	SO:0001583	missense	388381			AC006449, DY654789	CCDS42310.1	17q12	2014-05-06			ENSG00000214556	ENSG00000275489			34492	protein-coding gene	gene with protein product						16625196	Standard	NM_001080465		Approved	LOC388381	uc002hqv.2	A8MV24	OTTHUMG00000188506	ENST00000398575.4:c.37A>G	17.37:g.36997606T>C	ENSP00000381580:p.Lys13Glu			Missense_Mutation	SNP	ENST00000398575.4	37	CCDS42310.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.614500	0.87359	.	.	ENSG00000214556	ENST00000398575	T	0.48836	0.8	5.38	5.38	0.77491	.	0.000000	0.40469	U	0.001088	T	0.58264	0.2110	L	0.43152	1.355	0.40513	D	0.980755	D	0.71674	0.998	D	0.63488	0.915	T	0.62343	-0.6874	10	0.72032	D	0.01	-21.4557	13.3941	0.60840	0.0:0.0:0.0:1.0	.	13	A8MV24	CQ098_HUMAN	E	13	ENSP00000381580:K13E	ENSP00000381580:K13E	K	-	1	0	C17orf98	34251132	0.998000	0.40836	0.969000	0.41365	0.909000	0.53808	4.928000	0.63447	2.263000	0.75096	0.379000	0.24179	AAA		0.642	C17orf98-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255469.2	NM_001080465		C	36997606	T	C	36997606	3	2	741	1	0	0	0	0	1	0	0	0	1895	1792	62	3	439	3	C17orf98	17	36997606	Missense_Mutation	SNP	T	TCGA-KN-8435-01A-11D-2310-10	8341149	36997606	44197604	60	43289											
KRTAP4-9	100132386	mdanderson.org	37	17	39262096	39262096	+	Silent	SNP	C	C	T			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr17:39262096C>T	ENST00000391415.1	+	1	513	c.456C>T	c.(454-456)ccC>ccT	p.P152P		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	152	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						gctgccgccccagctgcagca	0.672																																																0													5	8	7					17																	39262096		674	1562	2236	SO:0001819	synonymous_variant	100132386			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.456C>T	17.37:g.39262096C>T				Silent	SNP	ENST00000391415.1	37	CCDS54124.1																																																																																				0.672	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041		T	39262096	C	T	39262096	2	4	741	1	0	0	0	0	0	0	0	1	8559	581	21	2		2	KRTAP4-9	17	39262096	Silent	SNP	C	TCGA-KN-8435-01A-11D-2310-10	2264490	39262096	41933114	61	43290											
BRCA1	672	broad.mit.edu;mdanderson.org	37	17	41244425	41244425	+	Silent	SNP	T	T	C			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr17:41244425T>C	ENST00000357654.3	-	10	3241	c.3123A>G	c.(3121-3123)tcA>tcG	p.S1041S	BRCA1_ENST00000346315.3_Silent_p.S1041S|BRCA1_ENST00000354071.3_Silent_p.S1041S|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000309486.4_Silent_p.S745S|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000471181.2_Silent_p.S1041S|BRCA1_ENST00000493795.1_Silent_p.S994S	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1041					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TAATATTGCTTGAGCTGGCTT	0.363			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	0													127	121	123					17																	41244425		2203	4300	6503	SO:0001819	synonymous_variant	672	Familial Cancer Database		U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1100	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 1", "protein phosphatase 1, regulatory subunit 53"	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.3123A>G	17.37:g.41244425T>C			O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Silent	SNP	ENST00000357654.3	37	CCDS11453.1																																																																																				0.363	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		C	41244425	T	C	41244425	2	2	741	1	0	0	0	0	0	0	0	1	1500	1799	63	3		3	BRCA1	17	41244425	Silent	SNP	T	TCGA-KN-8435-01A-11D-2310-10	1982329	41244425	39950785	62	43291											
CDC27	996	mdanderson.org	37	17	45214527	45214527	+	Missense_Mutation	SNP	T	T	C	rs62075618|rs200720095	byFrequency	TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr17:45214527T>C	ENST00000066544.3	-	14	1997	c.1904A>G	c.(1903-1905)tAt>tGt	p.Y635C	CDC27_ENST00000527547.1_Missense_Mutation_p.Y634C|CDC27_ENST00000531206.1_Missense_Mutation_p.Y641C|CDC27_ENST00000446365.2_Missense_Mutation_p.Y574C	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	635					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						CCATGCATTATAATGTCTAGG	0.338																																																0													35	35	35					17																	45214527		2203	4300	6503	SO:0001583	missense	996			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.1904A>G	17.37:g.45214527T>C	ENSP00000066544:p.Tyr635Cys		G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	T	29.4	5.004463	0.93287	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547	T;T;T;T	0.59502	0.26;0.26;0.26;0.26	5.98	5.98	0.97165	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.80798	0.4692	H	0.96943	3.91	0.09310	P	0.999999999633698	D;D;D;D	0.59357	0.985;0.982;0.982;0.969	P;P;P;P	0.56042	0.79;0.753;0.753;0.727	D	0.88807	0.3289	9	0.87932	D	0	-24.5847	14.4087	0.67101	0.0:0.0:0.0:1.0	rs62075618	574;634;641;635	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	C	635;641;574;634	ENSP00000066544:Y635C;ENSP00000434614:Y641C;ENSP00000392802:Y574C;ENSP00000437339:Y634C	ENSP00000066544:Y635C	Y	-	2	0	CDC27	42569526	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.308000	0.72820	2.293000	0.77203	0.477000	0.44152	TAT		0.338	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			C	45214527	T	C	45214527	3	2	741	1	0	0	0	0	1	0	0	0	3068	1406	49	3	594	3	CDC27	17	45214527	Missense_Mutation	SNP	T	TCGA-KN-8435-01A-11D-2310-10	3970102	45214527	35980683	63	43292											
MUC16	94025	mdanderson.org	37	19	9065113	9065113	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr19:9065113T>C	ENST00000397910.4	-	3	22536	c.22333A>G	c.(22333-22335)Acc>Gcc	p.T7445A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7447	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						GGTGAACTGGTTTCAGGTTCT	0.493																																																0													161	148	152					19																	9065113		1980	4172	6152	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.22333A>G	19.37:g.9065113T>C	ENSP00000381008:p.Thr7445Ala		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	N	6.007	0.369713	0.11352	.	.	ENSG00000181143	ENST00000397910	T	0.27720	1.65	2.98	0.715	0.18186	.	.	.	.	.	T	0.21186	0.0510	L	0.36672	1.1	.	.	.	P	0.45474	0.859	B	0.41236	0.351	T	0.21965	-1.0230	8	0.87932	D	0	.	3.6452	0.08182	0.2221:0.0:0.2298:0.5481	.	7445	B5ME49	.	A	7445	ENSP00000381008:T7445A	ENSP00000381008:T7445A	T	-	1	0	MUC16	8926113	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.156000	0.10100	0.060000	0.16281	0.455000	0.32223	ACC		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		C	9065113	T	C	9065113	3	2	741	1	0	0	0	0	1	0	0	0	9975	1725	60	3	21518	3	MUC16	19	9065113	Missense_Mutation	SNP	T	TCGA-KN-8435-01A-11D-2310-10		9065113	50063870	64	43293											
OR7A5	26659	mdanderson.org	37	19	14938184	14938184	+	Silent	SNP	A	A	G	rs200531878		TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	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																																																2	Substitution - coding silent(2)	kidney(2)											74	72	72					19																	14938184		2203	4300	6503	SO:0001819	synonymous_variant	26659			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			B2R682|Q6IFP1|Q96R96	Silent	SNP	ENST00000322301.3	37	CCDS12318.1																																																																																				0.478	OR7A5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466518.1	NM_017506		G	14938184	A	G	14938184	2	3	741	1	0	0	0	0	0	0	0	1	11218	456	16	3		3	OR7A5	19	14938184	Silent	SNP	A	TCGA-KN-8435-01A-11D-2310-10	5873071	14938184	44190799	65	43294											
OR7A5	26659	mdanderson.org	37	19	14938248	14938248	+	Missense_Mutation	SNP	T	T	A	rs112284734	byFrequency	TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr19:14938248T>A	ENST00000322301.3	-	2	893	c.806A>T	c.(805-807)cAc>cTc	p.H269L	OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_Missense_Mutation_p.H269L			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	269					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(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						TGCACTTGAGTGTGAGTTGCG	0.483																																																0													94	81	86					19																	14938248		2203	4300	6503	SO:0001583	missense	26659			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.806A>T	19.37:g.14938248T>A	ENSP00000316955:p.His269Leu		B2R682|Q6IFP1|Q96R96	Missense_Mutation	SNP	ENST00000322301.3	37	CCDS12318.1	.	.	.	.	.	.	.	.	.	.	t	11.34	1.609869	0.28712	.	.	ENSG00000188269	ENST00000322301	T	0.00069	8.77	3.12	-0.173	0.13322	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00109	0.0003	N	0.20445	0.575	0.09310	N	1	B	0.23990	0.095	B	0.33254	0.16	T	0.04976	-1.0914	9	0.48119	T	0.1	.	6.5609	0.22485	0.0:0.5426:0.0:0.4574	.	269	Q15622	OR7A5_HUMAN	L	269	ENSP00000316955:H269L	ENSP00000316955:H269L	H	-	2	0	OR7A5	14799248	0.000000	0.05858	0.000000	0.03702	0.320000	0.28249	-0.053000	0.11846	0.050000	0.15949	0.102000	0.15555	CAC		0.483	OR7A5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466518.1	NM_017506		A	14938248	T	A	14938248	3	1	741	1	0	0	0	0	1	0	0	0	11218	1696	59	5	157	5	OR7A5	19	14938248	Missense_Mutation	SNP	T	TCGA-KN-8435-01A-11D-2310-10	64	14938248	44190735	66	43295											
CPAMD8	27151	broad.mit.edu;ucsc.edu	37	19	17036078	17036078	+	Silent	SNP	A	A	G			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr19:17036078A>G	ENST00000443236.1	-	26	3647	c.3616T>C	c.(3616-3618)Ttg>Ctg	p.L1206L		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1159						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						AGATACTTCAAGACAAAGACG	0.542																																																0													95	99	97					19																	17036078		1998	4179	6177	SO:0001819	synonymous_variant	27151			AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.3616T>C	19.37:g.17036078A>G			Q8NC09|Q9ULD7	Silent	SNP	ENST00000443236.1	37	CCDS42519.1																																																																																				0.542	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		G	17036078	A	G	17036078	2	3	741	1	0	0	0	0	0	0	0	1	3797	69	3	3		3	CPAMD8	19	17036078	Silent	SNP	A	TCGA-KN-8435-01A-11D-2310-10	2097830	17036078	42092905	67	43296											
CILP2	148113	broad.mit.edu	37	19	19649208	19649208	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr19:19649208delT	ENST00000291495.5	+	1	135	c.50delT	c.(49-51)ctgfs	p.L17fs	CILP2_ENST00000586018.1_Frame_Shift_Del_p.L17fs	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	17						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						GCTGCGCACCTGGCGGGGGCC	0.761																																																0													8	11	10					19																	19649208		2122	4173	6295	SO:0001589	frameshift_variant	148113			AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.50delT	19.37:g.19649208delT	ENSP00000291495:p.Leu17fs		Q6NV88|Q8N4A6|Q8WV21	Frame_Shift_Del	DEL	ENST00000291495.5	37	CCDS12405.1																																																																																				0.761	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	NM_153221		-	19649208	T	-	19649208	7	5	741	1	0	1	0	1	0	0	0	0	3432	1580	55	0	52	0	CILP2	19	19649208	Frame_Shift_Del	DEL	T	TCGA-KN-8435-01A-11D-2310-10	2613130	19649208	39479775	68	43297											
RELB	5971	broad.mit.edu;bcgsc.ca	37	19	45537516	45537516	+	Missense_Mutation	SNP	G	G	C			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr19:45537516G>C	ENST00000221452.8	+	10	1372	c.1222G>C	c.(1222-1224)Gac>Cac	p.D408H	RELB_ENST00000505236.1_Missense_Mutation_p.D405H|RELB_ENST00000540120.1_Missense_Mutation_p.D408H	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	408	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				antigen processing and presentation (GO:0019882)|circadian regulation of gene expression (GO:0032922)|myeloid dendritic cell differentiation (GO:0043011)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of gene expression (GO:0010628)|T-helper 1 cell differentiation (GO:0045063)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		CTACGGCGTGGACAAGAAGCG	0.463																																																0													54	57	56					19																	45537516		1940	4138	6078	SO:0001583	missense	5971			M83221	CCDS46110.1	19q13.32	2013-07-09	2013-07-09		ENSG00000104856	ENSG00000104856			9956	protein-coding gene	gene with protein product		604758	"v-rel avian reticuloendotheliosis viral oncogene homolog B (nuclear factor of kappa light polypeptide gene enhancer in B-cells 3)"			1531086	Standard	NM_006509		Approved	REL-B	uc021uvp.1	Q01201	OTTHUMG00000162116	ENST00000221452.8:c.1222G>C	19.37:g.45537516G>C	ENSP00000221452:p.Asp408His		Q6GTX7|Q9UEI7	Missense_Mutation	SNP	ENST00000221452.8	37	CCDS46110.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.526283	0.44969	.	.	ENSG00000104856	ENST00000221452;ENST00000540120;ENST00000505236	T;T;T	0.44881	0.91;0.91;0.91	5.0	5.0	0.66597	.	0.446106	0.22395	N	0.060623	T	0.24122	0.0584	N	0.14661	0.345	0.40606	D	0.981628	P	0.35272	0.493	B	0.26094	0.066	T	0.10660	-1.0620	10	0.34782	T	0.22	-0.0751	13.6656	0.62393	0.0:0.0:1.0:0.0	.	405	D6R992	.	H	408;408;405	ENSP00000221452:D408H;ENSP00000445542:D408H;ENSP00000423287:D405H	ENSP00000221452:D408H	D	+	1	0	RELB	50229356	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	1.846000	0.39289	2.603000	0.88011	0.563000	0.77884	GAC		0.463	RELB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000367361.2			C	45537516	G	C	45537516	3	2	741	1	0	0	0	0	1	0	0	0	13223	1174	41	4	1252	4	RELB	19	45537516	Missense_Mutation	SNP	G	TCGA-KN-8435-01A-11D-2310-10	25888308	45537516	13591467	69	43298											
ZNF787	126208	broad.mit.edu	37	19	56599998	56599998	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr19:56599998delC	ENST00000270459.3	-	3	661	c.543delG	c.(541-543)ccgfs	p.P181fs		NM_001002836.2	NP_001002836	Q6DD87	ZN787_HUMAN	zinc finger protein 787	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)			central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		GGCCGCAGCGCGGGCACACGA	0.731																																																0										17,3769		5,7,1881	4	5	5			3.7	1	19		5	22,7600		5,12,3794	no	frameshift	ZNF787	NM_001002836.2		10,19,5675	A1A1,A1R,RR		0.2886,0.449,0.3419			56599998	39,11369	1997	4032	6029	SO:0001589	frameshift_variant	126208			BC077728, AF000560	CCDS42634.1	19q13.42	2013-01-08				ENSG00000142409		"Zinc fingers, C2H2-type"	26998	protein-coding gene	gene with protein product							Standard	NM_001002836		Approved		uc010eth.1	Q6DD87		ENST00000270459.3:c.543delG	19.37:g.56599998delC	ENSP00000270459:p.Pro181fs		O00455	Frame_Shift_Del	DEL	ENST00000270459.3	37	CCDS42634.1																																																																																				0.731	ZNF787-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457498.1	NM_001002836		-	56599998	C	-	56599998	7	5	741	1	0	1	0	1	0	0	0	0	18164	755	27	0	612	0	ZNF787	19	56599998	Frame_Shift_Del	DEL	C	TCGA-KN-8435-01A-11D-2310-10	11062482	56599998	2528985	70	43299											
ZNF548	147694	broad.mit.edu	37	19	57911165	57911166	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr19:57911165_57911166insTT	ENST00000366197.5	+	3	1760_1761	c.1510_1511insTT	c.(1510-1512)cttfs	p.L504fs	AC003002.6_ENST00000596400.1_Intron|AC003002.6_ENST00000600421.1_Intron|ZNF548_ENST00000336128.7_Frame_Shift_Ins_p.L516fs|AC004076.7_ENST00000597410.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	504					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)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGAAGAGAGGCTTGTGTGCTCC	0.416																																																0																																										SO:0001589	frameshift_variant	147694			AK057494	CCDS46209.1, CCDS54324.1	19q13.43	2013-01-08				ENSG00000188785		"Zinc fingers, C2H2-type", "-"	26561	protein-coding gene	gene with protein product						12477932	Standard	NM_152909		Approved	FLJ32932	uc002qon.3	Q8NEK5		ENST00000366197.5:c.1511_1512dupTT	19.37:g.57911166_57911167dupTT	ENSP00000379482:p.Leu504fs		Q96M05	Frame_Shift_Ins	INS	ENST00000366197.5	37	CCDS46209.1																																																																																				0.416	ZNF548-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465937.1	NM_152909		TT	57911166	-	TT	57911165	7	5	741	1	0	1	1	0	0	0	0	0	17985	797	28	0	1560	0	ZNF548	19	57911165	Frame_Shift_Ins	INS	-	TCGA-KN-8435-01A-11D-2310-10	1311167	57911165	1217818	71	43300											
ZNF584	201514	mdanderson.org	37	19	58921398	58921398	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr19:58921398A>G	ENST00000306910.4	+	2	632	c.109A>G	c.(109-111)Acc>Gcc	p.T37A	ZNF584_ENST00000599238.1_5'UTR|ZNF584_ENST00000322834.7_Missense_Mutation_p.T29A|ZNF584_ENST00000593920.1_5'UTR|CTD-2619J13.14_ENST00000593393.1_lincRNA|ZNF584_ENST00000596921.1_Intron|ZNF584_ENST00000596281.1_Intron	NM_173548.1	NP_775819.1	Q8IVC4	ZN584_HUMAN	zinc finger protein 584	37	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)|kidney(3)|large_intestine(3)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|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;0.0271)		CCTTAATGTGACCCAGAAGGG	0.537																																																0													178	155	163					19																	58921398		2203	4300	6503	SO:0001583	missense	201514			AK097218	CCDS12979.1	19q13.43	2013-01-08			ENSG00000171574	ENSG00000171574		"Zinc fingers, C2H2-type", "-"	27318	protein-coding gene	gene with protein product							Standard	NM_173548		Approved	FLJ39899	uc002qsp.3	Q8IVC4		ENST00000306910.4:c.109A>G	19.37:g.58921398A>G	ENSP00000306756:p.Thr37Ala		A8K203	Missense_Mutation	SNP	ENST00000306910.4	37	CCDS12979.1	.	.	.	.	.	.	.	.	.	.	A	0.472	-0.883756	0.02530	.	.	ENSG00000171574	ENST00000306910;ENST00000322834	T;T	0.01313	5.02;5.02	3.92	-3.28	0.05033	Krueppel-associated box (4);	.	.	.	.	T	0.00524	0.0017	N	0.01761	-0.735	0.09310	N	1	B;B	0.19073	0.033;0.002	B;B	0.18263	0.021;0.007	T	0.46176	-0.9210	9	0.02654	T	1	.	3.6587	0.08230	0.3759:0.0:0.3426:0.2815	.	29;37	F6W0P0;Q8IVC4	.;ZN584_HUMAN	A	37;29	ENSP00000306756:T37A;ENSP00000320731:T29A	ENSP00000306756:T37A	T	+	1	0	ZNF584	63613210	0.000000	0.05858	0.065000	0.19835	0.996000	0.88848	-3.011000	0.00647	-0.263000	0.09378	0.454000	0.30748	ACC		0.537	ZNF584-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467022.1	NM_173548		G	58921398	A	G	58921398	3	3	741	1	0	0	0	0	1	0	0	0	18021	275	10	3	115	3	ZNF584	19	58921398	Missense_Mutation	SNP	A	TCGA-KN-8435-01A-11D-2310-10	1010233	58921398	207585	72	43301											
PCNA	5111	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	20	5099481	5099481	+	Missense_Mutation	SNP	C	C	G			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr20:5099481C>G	ENST00000379160.3	-	3	495	c.253G>C	c.(253-255)Gaa>Caa	p.E85Q	PCNA_ENST00000379143.5_Missense_Mutation_p.E85Q|SNORA26_ENST00000391215.1_RNA	NM_002592.2	NP_002583.1	P12004	PCNA_HUMAN	proliferating cell nuclear antigen	85	Interaction with NUDT15.				base-excision repair (GO:0006284)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|epithelial cell differentiation (GO:0030855)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|leading strand elongation (GO:0006272)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of deoxyribonuclease activity (GO:0032077)|regulation of DNA replication (GO:0006275)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|response to cadmium ion (GO:0046686)|response to lipid (GO:0033993)|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)|translesion synthesis (GO:0019985)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|nuclear replication fork (GO:0043596)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCNA complex (GO:0043626)|PCNA-p21 complex (GO:0070557)	dinucleotide insertion or deletion binding (GO:0032139)|DNA polymerase binding (GO:0070182)|DNA polymerase processivity factor activity (GO:0030337)|identical protein binding (GO:0042802)|MutLalpha complex binding (GO:0032405)|purine-specific mismatch base pair DNA N-glycosylase activity (GO:0000701)|receptor tyrosine kinase binding (GO:0030971)			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)	9						ATGATATCTTCATTGCCGGCG	0.448								DNA polymerases (catalytic subunits)																																								0													210	202	205					20																	5099481		2203	4300	6503	SO:0001583	missense	5111			J04718	CCDS13087.1	20p13-p12.3	2013-09-19			ENSG00000132646	ENSG00000132646			8729	protein-coding gene	gene with protein product		176740				2565339	Standard	NM_002592		Approved		uc002wlp.3	P12004	OTTHUMG00000031798	ENST00000379160.3:c.253G>C	20.37:g.5099481C>G	ENSP00000368458:p.Glu85Gln		B2R897|D3DW02	Missense_Mutation	SNP	ENST00000379160.3	37	CCDS13087.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.219431	0.79464	.	.	ENSG00000132646	ENST00000379143;ENST00000379160	.	.	.	4.81	4.81	0.61882	Proliferating cell nuclear antigen, PCNA, N-terminal (1);	0.046072	0.85682	D	0.000000	T	0.66356	0.2781	M	0.62723	1.935	0.80722	D	1	P;B	0.38048	0.616;0.162	B;B	0.43194	0.411;0.261	T	0.70927	-0.4739	9	0.62326	D	0.03	-17.6534	16.6123	0.84886	0.0:1.0:0.0:0.0	.	85;85	B4DUA2;P12004	.;PCNA_HUMAN	Q	85	.	ENSP00000368438:E85Q	E	-	1	0	PCNA	5047481	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.322000	0.79097	2.471000	0.83476	0.563000	0.77884	GAA		0.448	PCNA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077852.2			G	5099481	C	G	5099481	3	3	741	1	0	0	0	0	1	0	0	0	11590	835	29	4	552	4	PCNA	20	5099481	Missense_Mutation	SNP	C	TCGA-KN-8435-01A-11D-2310-10		5099481	57926039	73	43302											
NECAB3	63941	broad.mit.edu;hgsc.bcm.edu	37	20	32258501	32258501	+	Frame_Shift_Del	DEL	C	C	-	rs576975573		TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr20:32258501delC	ENST00000246190.6	-	3	307	c.252delG	c.(250-252)gggfs	p.G84fs	NECAB3_ENST00000375238.4_Frame_Shift_Del_p.G84fs	NM_031232.3	NP_112509.3	Q96P71	NECA3_HUMAN	N-terminal EF-hand calcium binding protein 3	84					protein metabolic process (GO:0019538)|protein secretion (GO:0009306)|regulation of amyloid precursor protein biosynthetic process (GO:0042984)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|Golgi cis cisterna (GO:0000137)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			large_intestine(3)|lung(5)|skin(2)	10						CGGTGAGATGCCCATCAATGC	0.547																																																0													61	65	64					20																	32258501		1980	4161	6141	SO:0001589	frameshift_variant	63941			AB039947	CCDS42866.1, CCDS42867.1	20q11.21	2013-01-10	2007-12-06	2007-12-06	ENSG00000125967	ENSG00000125967		"N-terminal EF-hand calcium binding proteins", "EF-hand domain containing"	15851	protein-coding gene	gene with protein product	"EF-hand calcium binding protein 3"	612478	"amyloid beta (A4) precursor protein-binding, family A, member 2 binding protein"	SYTIP2, APBA2BP		10833507	Standard	NM_031232		Approved	XB51, dJ63M2.4, NIP1, dJ63M2.5, EFCBP3	uc002wzn.4	Q96P71	OTTHUMG00000032264	ENST00000246190.6:c.252delG	20.37:g.32258501delC	ENSP00000246190:p.Gly84fs		A8K780|E1P5N2|Q5JWF5|Q5JWF6|Q5JWF7|Q86VV1|Q9H433|Q9H8G8|Q9HBW7|Q9HCQ9	Frame_Shift_Del	DEL	ENST00000246190.6	37	CCDS42866.1																																																																																				0.547	NECAB3-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078724.2			-	32258501	C	-	32258501	7	5	741	1	0	1	0	1	0	0	0	0	10308	726	26	0	978	0	NECAB3	20	32258501	Frame_Shift_Del	DEL	C	TCGA-KN-8435-01A-11D-2310-10	27159020	32258501	30767019	74	43303	417	2									
NECAB3	63941	bcgsc.ca	37	20	32258502	32258502	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr20:32258502delC	ENST00000246190.6	-	3	306	c.251delG	c.(250-252)gggfs	p.G84fs	NECAB3_ENST00000375238.4_Frame_Shift_Del_p.G84fs	NM_031232.3	NP_112509.3	Q96P71	NECA3_HUMAN	N-terminal EF-hand calcium binding protein 3	84					protein metabolic process (GO:0019538)|protein secretion (GO:0009306)|regulation of amyloid precursor protein biosynthetic process (GO:0042984)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|Golgi cis cisterna (GO:0000137)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			large_intestine(3)|lung(5)|skin(2)	10						GGTGAGATGCCCATCAATGCC	0.552																																																0													62	66	65					20																	32258502		1979	4159	6138	SO:0001589	frameshift_variant	63941			AB039947	CCDS42866.1, CCDS42867.1	20q11.21	2013-01-10	2007-12-06	2007-12-06	ENSG00000125967	ENSG00000125967		"N-terminal EF-hand calcium binding proteins", "EF-hand domain containing"	15851	protein-coding gene	gene with protein product	"EF-hand calcium binding protein 3"	612478	"amyloid beta (A4) precursor protein-binding, family A, member 2 binding protein"	SYTIP2, APBA2BP		10833507	Standard	NM_031232		Approved	XB51, dJ63M2.4, NIP1, dJ63M2.5, EFCBP3	uc002wzn.4	Q96P71	OTTHUMG00000032264	ENST00000246190.6:c.251delG	20.37:g.32258502delC	ENSP00000246190:p.Gly84fs		A8K780|E1P5N2|Q5JWF5|Q5JWF6|Q5JWF7|Q86VV1|Q9H433|Q9H8G8|Q9HBW7|Q9HCQ9	Frame_Shift_Del	DEL	ENST00000246190.6	37	CCDS42866.1																																																																																				0.552	NECAB3-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078724.2			-	32258502	C	-	32258502	7	5	741	1	0	1	0	1	0	0	0	0	10308	623	22	0	979	0	NECAB3	20	32258502	Frame_Shift_Del	DEL	C	TCGA-KN-8435-01A-11D-2310-10	1	32258502	30767018	75	43304	417	2									
GGT7	2686	broad.mit.edu	37	20	33447370	33447371	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr20:33447370_33447371insG	ENST00000336431.5	-	7	933_934	c.889_890insC	c.(889-891)cgcfs	p.R297fs		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	297					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)	p.R297H(1)		NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						TAGTGGCGGGCGGCCCGATGGC	0.688																																																1	Substitution - Missense(1)	lung(1)																																								SO:0001589	frameshift_variant	2686			AL049709	CCDS13242.2	20q11.22	2008-11-24	2008-03-10	2008-03-10	ENSG00000131067	ENSG00000131067		"Gamma-glutamyltransferases"	4259	protein-coding gene	gene with protein product		612342	"gamma-glutamyltransferase-like 3"	GGTL5, GGTL3		8104871, 18357469	Standard	NM_178026		Approved	D20S101, dJ18C9.2	uc002xay.3	Q9UJ14	OTTHUMG00000032314	ENST00000336431.5:c.890dupC	20.37:g.33447372_33447372dupG	ENSP00000338964:p.Arg297fs		Q8N899|Q8NF66|Q9BYP5|Q9BYP6	Frame_Shift_Ins	INS	ENST00000336431.5	37	CCDS13242.2																																																																																				0.688	GGT7-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078816.2	NM_178026		G	33447371	-	G	33447370	7	5	741	1	0	1	1	0	0	0	0	0	6366	768	27	0	1134	0	GGT7	20	33447370	Frame_Shift_Ins	INS	-	TCGA-KN-8435-01A-11D-2310-10	1188868	33447370	29578150	76	43305											
MFNG	4242	broad.mit.edu	37	22	37875491	37875491	+	Silent	SNP	C	C	T			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr22:37875491C>T	ENST00000356998.3	-	4	676	c.453G>A	c.(451-453)gcG>gcA	p.A151A	MFNG_ENST00000416983.3_Silent_p.A137A	NM_002405.3	NP_002396.2	O00587	MFNG_HUMAN	MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	151					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)					GCTGCAGCAGCGCCCTTGGGT	0.612																																																0													90	77	81					22																	37875491		2203	4300	6503	SO:0001819	synonymous_variant	4242			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.453G>A	22.37:g.37875491C>T			B4DLT6|O43730|Q504S9	Silent	SNP	ENST00000356998.3	37	CCDS13947.1																																																																																				0.612	MFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318902.1	NM_002405		T	37875491	C	T	37875491	2	4	741	1	0	0	0	0	0	0	0	1	9527	755	27	1		1	MFNG	22	37875491	Silent	SNP	C	TCGA-KN-8435-01A-11D-2310-10		37875491	13429075	77	43306											
SYNGR1	9145	broad.mit.edu	37	22	39777835	39777836	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr22:39777835_39777836insC	ENST00000328933.5	+	4	633_634	c.618_619insC	c.(619-621)cccfs	p.P207fs		NM_004711.4	NP_004702.2	O43759	SNG1_HUMAN	synaptogyrin 1	207					protein targeting (GO:0006605)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle membrane (GO:0030672)				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	7	Melanoma(58;0.04)					CTGGGCCGGATCCCGCCGGTAT	0.673																																																0																																										SO:0001589	frameshift_variant	9145			AJ002303	CCDS13989.1, CCDS13990.1, CCDS13991.1	22q13	2008-06-10			ENSG00000100321	ENSG00000100321			11498	protein-coding gene	gene with protein product		603925				9760194, 10595519	Standard	NM_004711		Approved			O43759	OTTHUMG00000030978	ENST00000328933.5:c.621dupC	22.37:g.39777838_39777838dupC	ENSP00000332287:p.Pro207fs		A6NP69|A8K0E2|O43757|O43758|Q53Y02|Q96J56|Q9UGZ4	Frame_Shift_Ins	INS	ENST00000328933.5	37	CCDS13989.1																																																																																				0.673	SYNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075866.2	NM_004711		C	39777836	-	C	39777835	7	5	741	1	0	1	1	0	0	0	0	0	15453	1432	50	0	835	0	SYNGR1	22	39777835	Frame_Shift_Ins	INS	-	TCGA-KN-8435-01A-11D-2310-10	1902344	39777835	11526731	78	43307											
BRD1	23774	broad.mit.edu;mdanderson.org	37	22	50216913	50216913	+	Silent	SNP	A	A	G			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr22:50216913A>G	ENST00000216267.8	-	1	1539	c.1053T>C	c.(1051-1053)caT>caC	p.H351H	BRD1_ENST00000404034.1_Silent_p.H351H|BRD1_ENST00000542442.1_5'UTR|BRD1_ENST00000342989.5_5'Flank|BRD1_ENST00000404760.1_Silent_p.H351H|BRD1_ENST00000457780.2_Silent_p.H351H|BRD1_ENST00000459821.1_5'UTR	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	351					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)		CACACGTCACATGGAATGCTG	0.562																																																0													135	130	132					22																	50216913		2203	4300	6503	SO:0001819	synonymous_variant	23774			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.1053T>C	22.37:g.50216913A>G			A6ZJA4	Silent	SNP	ENST00000216267.8	37	CCDS14080.1																																																																																				0.562	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	NM_014577		G	50216913	A	G	50216913	2	3	741	1	0	0	0	0	0	0	0	1	1503	214	8	3		3	BRD1	22	50216913	Silent	SNP	A	TCGA-KN-8435-01A-11D-2310-10	10439078	50216913	1087653	79	43308											
USP11	8237	mdanderson.org	37	X	47092432	47092432	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chrX:47092432A>G	ENST00000218348.3	+	1	119	c.119A>G	c.(118-120)gAa>gGa	p.E40G	USP11_ENST00000377107.2_5'UTR	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	40					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						TGTAGAAGAGAACGgacggcg	0.637																																																0													24	22	22					X																	47092432		2203	4299	6502	SO:0001583	missense	8237			U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226		"Ubiquitin-specific peptidases"	12609	protein-coding gene	gene with protein product		300050	"ubiquitin specific protease 11"			12838346	Standard	XM_005272674		Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000218348.3:c.119A>G	X.37:g.47092432A>G	ENSP00000218348:p.Glu40Gly		B2RTX1|Q8IUG6|Q9BWE1	Missense_Mutation	SNP	ENST00000218348.3	37	CCDS14277.1	.	.	.	.	.	.	.	.	.	.	A	2.393	-0.339424	0.05243	.	.	ENSG00000102226	ENST00000218348	T	0.22336	1.96	4.53	0.72	0.18214	.	.	.	.	.	T	0.08088	0.0202	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36696	-0.9737	9	0.27785	T	0.31	-1.3885	6.0165	0.19605	0.5144:0.0:0.4856:0.0	.	40	P51784	UBP11_HUMAN	G	40	ENSP00000218348:E40G	ENSP00000218348:E40G	E	+	2	0	USP11	46977376	0.008000	0.16893	0.041000	0.18516	0.014000	0.08584	0.710000	0.25748	0.095000	0.17434	-0.502000	0.04539	GAA		0.637	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_004651		G	47092432	A	G	47092432	3	3	741	1	0	0	0	0	1	0	0	0	17047	246	9	3	121	3	USP11	23	47092432	Missense_Mutation	SNP	A	TCGA-KN-8435-01A-11D-2310-10		47092432	108178128	80	43309											
GPR112	139378	mdanderson.org	37	X	135431236	135431236	+	Missense_Mutation	SNP	T	T	C	rs5930932	byFrequency	TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chrX:135431236T>C	ENST00000394143.1	+	6	5662	c.5371T>C	c.(5371-5373)Ttt>Ctt	p.F1791L	GPR112_ENST00000412101.1_Missense_Mutation_p.F1586L|GPR112_ENST00000370652.1_Missense_Mutation_p.F1791L|GPR112_ENST00000287534.4_Missense_Mutation_p.F1728L|GPR112_ENST00000394141.1_Missense_Mutation_p.F1586L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1791			F -> L (in dbSNP:rs5930932).		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.F1791L(1)		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)					CACCAATTGCTTTTCTTCTAA	0.383													c|||	1834	0.485828	0.4569	0.3617	3775	,	,		15609	0.2778		0.3797	False		,,,				2504	0.3241															1	Substitution - Missense(1)	prostate(1)							LEU/PHE	2257,1576		567,784,339,280,232	133	133	133		5371	-1.8	0	X	dbSNP_114	133	3229,3499		567,1181,914,680,958	yes	missense	GPR112	NM_153834.3	22	1134,1965,1253,960,1190	CC,CT,C,TT,T		47.9935,41.1166,48.0542	benign	1791/3081	135431236	5486,5075	2202	4300	6502	SO:0001583	missense	139378			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.5371T>C	X.37:g.135431236T>C	ENSP00000377699:p.Phe1791Leu		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	CCDS35409.1	786	0.47377938517179025	152	0.4175824175824176	84	0.29577464788732394	112	0.24669603524229075	190	0.3242320819112628	c	0.020	-1.432654	0.01108	0.588834	0.479935	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.20463	2.11;2.11;2.07;2.25;2.07	3.63	-1.78	0.07957	.	.	.	.	.	T	0.00012	0.0000	N	0.01352	-0.895	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.37291	-0.9712	8	0.21014	T	0.42	.	5.3382	0.15969	0.0:0.2802:0.1606:0.5593	rs5930932;rs6635265;rs52832481;rs60264923;rs5930932	1728;1586;1791	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	L	1791;1791;1586;1728;1586	ENSP00000377699:F1791L;ENSP00000359686:F1791L;ENSP00000416526:F1586L;ENSP00000287534:F1728L;ENSP00000377697:F1586L	ENSP00000287534:F1728L	F	+	1	0	GPR112	135258902	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.934000	0.03955	-1.013000	0.03383	-1.690000	0.00728	TTT		0.383	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			C	135431236	T	C	135431236	3	2	741	1	0	0	0	0	1	0	0	0	6631	1609	56	3	5381	3	GPR112	23	135431236	Missense_Mutation	SNP	T	TCGA-KN-8435-01A-11D-2310-10	88338804	135431236	19839324	81	43310											
CXorf1	9142	mdanderson.org	37	X	144909347	144909347	+	Missense_Mutation	SNP	C	C	T	rs370861051		TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chrX:144909347C>T	ENST00000408967.2	+	1	420	c.152C>T	c.(151-153)tCg>tTg	p.S51L		NM_004709.2	NP_004700.1	O96002	TM257_HUMAN	transmembrane protein 257	51						integral component of membrane (GO:0016021)		p.S51L(1)									CAAGCACTTTCGACCATATTT	0.313																																																1	Substitution - Missense(1)	large_intestine(1)						C	LEU/SER	1,3834		0,1,1631,571	87	86	86		152	-4.7	0	X		86	1,6725		0,1,2426,1872	no	missense	CXorf1	NM_004709.2	145	0,2,4057,2443	TT,TC,CC,C		0.0149,0.0261,0.0189	benign	51/112	144909347	2,10559	2203	4299	6502	SO:0001583	missense	9142			Y08902	CCDS14681.1	Xq27.3	2012-12-03	2012-12-03	2012-12-03	ENSG00000221870	ENSG00000221870			2562	protein-coding gene	gene with protein product		300565	"chromosome X open reading frame 1"	CXorf1		9881668	Standard	NM_004709		Approved		uc004fch.3	O96002	OTTHUMG00000159605	ENST00000408967.2:c.152C>T	X.37:g.144909347C>T	ENSP00000386149:p.Ser51Leu		Q14CW0	Missense_Mutation	SNP	ENST00000408967.2	37	CCDS14681.1	.	.	.	.	.	.	.	.	.	.	C	3.263	-0.150696	0.06585	2.61E-4	1.49E-4	ENSG00000221870	ENST00000408967	T	0.54279	0.58	5.68	-4.68	0.03309	.	.	.	.	.	T	0.21962	0.0529	N	0.08118	0	0.09310	N	1	B	0.32051	0.354	B	0.23150	0.044	T	0.10894	-1.0610	9	0.87932	D	0	.	1.8321	0.03132	0.3277:0.1317:0.3753:0.1653	.	51	O96002	CX001_HUMAN	L	51	ENSP00000386149:S51L	ENSP00000386149:S51L	S	+	2	0	CXorf1	144717039	0.000000	0.05858	0.000000	0.03702	0.074000	0.17049	-0.690000	0.05138	-1.099000	0.03034	0.594000	0.82650	TCG		0.313	TMEM257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356465.1	NM_004709		T	144909347	C	T	144909347	3	4	741	1	0	0	0	0	1	0	0	0	4102	893	31	1	154	1	CXorf1	23	144909347	Missense_Mutation	SNP	C	TCGA-KN-8435-01A-11D-2310-10	9478111	144909347	10361213	82	43311											
ENO1	2023	broad.mit.edu;mdanderson.org	37	1	8922983	8922983	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr1:8922983G>A	ENST00000234590.4	-	11	1317	c.1198C>T	c.(1198-1200)Cga>Tga	p.R400*		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	400					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		CGCTCAGATCGGCAAGGGGCA	0.562											OREG0013068	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(21;302 608 19946 22210 33560)											0													69	63	65					1																	8922983		2203	4300	6503	SO:0001587	stop_gained	2023			BC022545	CCDS97.1	1p36.2	2010-03-11			ENSG00000074800	ENSG00000074800	4.2.1.11		3350	protein-coding gene	gene with protein product		172430		ENO1L1, MPB1		9653645, 9691177	Standard	NM_001428		Approved	PPH, MBP-1	uc001apj.2	P06733	OTTHUMG00000001773	ENST00000234590.4:c.1198C>T	1.37:g.8922983G>A	ENSP00000234590:p.Arg400*	653	B2RD59|P22712|Q16704|Q4TUS4|Q53FT9|Q53HR3|Q658M5|Q6GMP2|Q71V37|Q7Z3V6|Q8WU71|Q96GV1|Q9BT62|Q9UCH6|Q9UM55	Nonsense_Mutation	SNP	ENST00000234590.4	37	CCDS97.1	.	.	.	.	.	.	.	.	.	.	G	38	6.671518	0.97751	.	.	ENSG00000074800	ENST00000234590	.	.	.	5.59	2.45	0.29901	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	9.2527	13.3525	0.60609	0.0:0.0:0.4613:0.5387	.	.	.	.	X	400	.	ENSP00000234590:R400X	R	-	1	2	ENO1	8845570	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	2.068000	0.41471	0.684000	0.31448	0.561000	0.74099	CGA		0.562	ENO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004945.1	NM_001428		A	8922983	G	A	8922983	4	1	742	1	0	0	0	0	0	1	0	0	5123	1124	39	1	114	1	ENO1	1	8922983	Nonsense_Mutation	SNP	G	TCGA-KN-8436-01A-11D-2310-10		8922983	240327638	1	43312											
PRAMEF2	65122	mdanderson.org	37	1	12919552	12919552	+	Missense_Mutation	SNP	T	T	C	rs74056159		TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr1:12919552T>C	ENST00000240189.2	+	3	379	c.292T>C	c.(292-294)Tgg>Cgg	p.W98R		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	98					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)		CCACAGGAGGTGGAAACTTCA	0.517																																																0													76	93	88					1																	12919552		2189	4294	6483	SO:0001583	missense	65122				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.292T>C	1.37:g.12919552T>C	ENSP00000240189:p.Trp98Arg			Missense_Mutation	SNP	ENST00000240189.2	37	CCDS149.1	.	.	.	.	.	.	.	.	.	.	T	2.064	-0.414612	0.04766	.	.	ENSG00000120952	ENST00000240189	T	0.16597	2.33	0.842	-1.68	0.08212	.	0.789017	0.12038	N	0.505349	T	0.09642	0.0237	L	0.37697	1.125	0.09310	N	1	B	0.14805	0.011	B	0.18561	0.022	T	0.37934	-0.9684	10	0.22109	T	0.4	.	1.3967	0.02262	0.3312:0.2798:0.0:0.3889	.	98	O60811	PRAM2_HUMAN	R	98	ENSP00000240189:W98R	ENSP00000240189:W98R	W	+	1	0	PRAMEF2	12842139	0.000000	0.05858	0.024000	0.17045	0.040000	0.13550	-0.349000	0.07731	-0.932000	0.03742	0.163000	0.16589	TGG		0.517	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		C	12919552	T	C	12919552	3	2	742	1	0	0	0	0	1	0	0	0	12440	1696	59	3	298	3	PRAMEF2	1	12919552	Missense_Mutation	SNP	T	TCGA-KN-8436-01A-11D-2310-10	3996569	12919552	236331069	2	43313											
C1orf177	163747	bcgsc.ca	37	1	55279488	55279488	+	Splice_Site	DEL	A	A	-			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr1:55279488delA	ENST00000371273.3	+	7	779	c.764delA	c.(763-765)aaa>aa	p.K257fs	C1orf177_ENST00000358193.3_Splice_Site_p.K257fs	NM_001110533.1	NP_001104003	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	257										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						TTTTCTTAGAAAAAAAAGCCC	0.418																																																0													49	56	54					1																	55279488		2203	4300	6503	SO:0001630	splice_region_variant	163747			AK097520	CCDS599.1, CCDS44153.1	1p32.3	2012-07-25			ENSG00000162398	ENSG00000162398			26854	protein-coding gene	gene with protein product							Standard	NM_152607		Approved	FLJ40201	uc001cyb.4	Q3ZCV2	OTTHUMG00000009986	ENST00000371273.3:c.763-1A>-	1.37:g.55279488delA			B7WPL2|Q8N7Y9	Frame_Shift_Del	DEL	ENST00000371273.3	37	CCDS44153.1																																																																																				0.418	C1orf177-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000027674.1	NM_152607	Frame_Shift_Del	-	55279488	A	-	55279488	8	5	742	1	0	1	0	1	0	0	1	0	2019	28	1	0	790	0	C1orf177	1	55279488	Splice_Site	DEL	A	TCGA-KN-8436-01A-11D-2310-10	42359936	55279488	193971133	3	43314											
NBPF10	100132406	mdanderson.org	37	1	145368524	145368524	+	Missense_Mutation	SNP	A	A	T	rs111770733	byFrequency	TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr1:145368524A>T	ENST00000369339.3	+	17	2109	c.1856A>T	c.(1855-1857)tAc>tTc	p.Y619F	NBPF10_ENST00000369338.1_Missense_Mutation_p.Y617F|NBPF10_ENST00000342960.5_Missense_Mutation_p.Y3501F			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	796	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)		CCGTCAATGTACTTTGAACTA	0.448													.|||	31	0.0061901	0.0159	0.0	5008	,	,		51851	0.001		0.002	False		,,,				2504	0.0072															0																																										SO:0001583	missense	100132406			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.1856A>T	1.37:g.145368524A>T	ENSP00000358345:p.Tyr619Phe		Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369339.3	37		.	.	.	.	.	.	.	.	.	.	.	0.426	-0.905953	0.02453	.	.	ENSG00000163386	ENST00000369339;ENST00000369338;ENST00000342960	T;T	0.07327	3.2;3.2	0.732	-1.46	0.08800	.	.	.	.	.	T	0.02571	0.0078	M	0.70595	2.14	0.09310	N	1	B	0.14805	0.011	B	0.24006	0.05	T	0.45848	-0.9233	9	0.34782	T	0.22	.	1.3992	0.02267	0.3771:0.0:0.2897:0.3332	.	565	Q4VC10	.	F	621;617;3501	ENSP00000358344:Y617F;ENSP00000345684:Y3501F	ENSP00000345684:Y3501F	Y	+	2	0	NBPF10	144079881	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.188000	0.03064	-1.054000	0.03214	0.316000	0.21350	TAC		0.448	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		T	145368524	A	T	145368524	3	4	742	1	0	0	0	0	1	0	0	0	10195	391	14	5	10836	5	NBPF10	1	145368524	Missense_Mutation	SNP	A	TCGA-KN-8436-01A-11D-2310-10	90089036	145368524	103882097	4	43315											
DPM3	54344	broad.mit.edu	37	1	155112594	155112594	+	Silent	SNP	C	C	A			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr1:155112594C>A	ENST00000341298.3	-	2	258	c.123G>T	c.(121-123)ctG>ctT	p.L41L	DPM3_ENST00000368399.1_Silent_p.L71L|DPM3_ENST00000368400.4_Silent_p.L41L			Q9P2X0	DPM3_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 3	41					C-terminal protein lipidation (GO:0006501)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|protein C-linked glycosylation via 2'-alpha-mannosyl-L-tryptophan (GO:0018406)|protein mannosylation (GO:0035268)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)|regulation of protein stability (GO:0031647)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|mannosyltransferase complex (GO:0031501)|membrane (GO:0016020)				endometrium(2)	2	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)			AGTAGGCGGGCAGTGGCCACA	0.662																																																0													32	33	33					1																	155112594		2202	4299	6501	SO:0001819	synonymous_variant	54344			AB028128	CCDS1094.1, CCDS1095.1	1q22	2013-02-26			ENSG00000179085	ENSG00000179085			3007	protein-coding gene	gene with protein product	"DPM synthase complex subunit"	605951				10835346	Standard	NM_018973		Approved	MGC34275, MGC125904, MGC125905	uc001fhm.3	Q9P2X0	OTTHUMG00000035335	ENST00000341298.3:c.123G>T	1.37:g.155112594C>A			Q5SR62|Q5SR63|Q9BXN4|Q9BXN5	Silent	SNP	ENST00000341298.3	37	CCDS1095.1																																																																																				0.662	DPM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085519.1	NM_153741		A	155112594	C	A	155112594	2	1	742	1	0	0	0	0	0	0	0	1	4728	697	25	4		4	DPM3	1	155112594	Silent	SNP	C	TCGA-KN-8436-01A-11D-2310-10	9744070	155112594	94138027	5	43316											
USH2A	7399	broad.mit.edu;bcgsc.ca	37	1	215953292	215953292	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr1:215953292C>T	ENST00000307340.3	-	55	11218	c.10832G>A	c.(10831-10833)aGt>aAt	p.S3611N	USH2A_ENST00000366943.2_Missense_Mutation_p.S3611N	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3611	Fibronectin type-III 21. {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)		CTCAGGGACACTCCAGCTCAG	0.532										HNSCC(13;0.011)																																						0													166	131	143					1																	215953292		2203	4300	6503	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.10832G>A	1.37:g.215953292C>T	ENSP00000305941:p.Ser3611Asn		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	4.798	0.148453	0.09134	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.58652	0.32;0.32	5.74	1.39	0.22231	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.568938	0.15713	N	0.248327	T	0.45438	0.1342	M	0.64676	1.99	0.09310	N	1	B	0.11235	0.004	B	0.12156	0.007	T	0.29336	-1.0015	10	0.20519	T	0.43	.	2.4629	0.04546	0.1103:0.3484:0.3191:0.2222	.	3611	O75445	USH2A_HUMAN	N	3611	ENSP00000305941:S3611N;ENSP00000355910:S3611N	ENSP00000305941:S3611N	S	-	2	0	USH2A	214019915	0.000000	0.05858	0.151000	0.22473	0.960000	0.62799	-1.142000	0.03203	0.229000	0.21039	0.650000	0.86243	AGT		0.532	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		T	215953292	C	T	215953292	3	4	742	1	0	0	0	0	1	0	0	0	17041	565	20	2	4848	2	USH2A	1	215953292	Missense_Mutation	SNP	C	TCGA-KN-8436-01A-11D-2310-10	60840698	215953292	33297329	6	43317											
UGGT1	56886	broad.mit.edu;mdanderson.org	37	2	128945096	128945096	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr2:128945096A>G	ENST00000259253.6	+	40	4597	c.4550A>G	c.(4549-4551)gAc>gGc	p.D1517G	UGGT1_ENST00000375990.3_Missense_Mutation_p.D1493G|UGGT1_ENST00000465836.1_3'UTR	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	1517	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						CAGGACTACGACCAAGAGATC	0.478																																																0													55	52	53					2																	128945096		2203	4300	6503	SO:0001583	missense	56886			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.4550A>G	2.37:g.128945096A>G	ENSP00000259253:p.Asp1517Gly		Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	ENST00000259253.6	37	CCDS2154.1	.	.	.	.	.	.	.	.	.	.	A	31	5.090764	0.94149	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.22134	1.97;1.97	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.62134	0.2403	H	0.96720	3.87	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76096	-0.3084	9	.	.	.	.	16.0399	0.80667	1.0:0.0:0.0:0.0	.	1517	Q9NYU2	UGGG1_HUMAN	G	1493;1517	ENSP00000365158:D1493G;ENSP00000259253:D1517G	.	D	+	2	0	UGGT1	128661566	1.000000	0.71417	0.902000	0.35471	0.969000	0.65631	8.669000	0.91163	2.371000	0.80710	0.533000	0.62120	GAC		0.478	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120		G	128945096	A	G	128945096	3	3	742	1	0	0	0	0	1	0	0	0	16946	275	10	3	4708	3	UGGT1	2	128945096	Missense_Mutation	SNP	A	TCGA-KN-8436-01A-11D-2310-10		128945096	114254277	7	43318											
BBS5	129880	bcgsc.ca	37	2	170343593	170343593	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr2:170343593A>G	ENST00000295240.3	+	3	533	c.157A>G	c.(157-159)Aca>Gca	p.T53A	BBS5_ENST00000392663.2_Missense_Mutation_p.T53A|RP11-724O16.1_ENST00000513963.1_Missense_Mutation_p.T53A|BBS5_ENST00000554017.1_Missense_Mutation_p.T53A	NM_152384.2	NP_689597.1	Q8N3I7	BBS5_HUMAN	Bardet-Biedl syndrome 5	53					cilium assembly (GO:0042384)|heart looping (GO:0001947)|melanosome transport (GO:0032402)|motile cilium assembly (GO:0044458)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphatidylinositol-3-phosphate binding (GO:0032266)|RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						ACTCTTGGTAACAAATTTAAG	0.343									Bardet-Biedl syndrome																																							0													175	182	180					2																	170343593		2203	4300	6503	SO:0001583	missense	129880	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AY604003	CCDS2233.1	2q31	2011-08-02			ENSG00000163093	ENSG00000163093			970	protein-coding gene	gene with protein product		603650				9888993, 10053027	Standard	NM_152384		Approved	DKFZp762I194		Q8N3I7	OTTHUMG00000132207	ENST00000295240.3:c.157A>G	2.37:g.170343593A>G	ENSP00000295240:p.Thr53Ala		D3DPC3|Q6PKN0	Missense_Mutation	SNP	ENST00000295240.3	37	CCDS2233.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.734544	0.89482	.	.	ENSG00000163093;ENSG00000163093;ENSG00000163093;ENSG00000251569	ENST00000295240;ENST00000554017;ENST00000392663;ENST00000513963	T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.91147	0.7212	M	0.88570	2.965	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.985;0.996;0.998	D	0.92831	0.6280	10	0.87932	D	0	-16.5329	15.6945	0.77484	1.0:0.0:0.0:0.0	.	53;53;53	E9PBE3;Q8N3I7-2;Q8N3I7	.;.;BBS5_HUMAN	A	53	ENSP00000295240:T53A;ENSP00000452313:T53A;ENSP00000376431:T53A;ENSP00000424363:T53A	ENSP00000295240:T53A	T	+	1	0	BBS5;RP11-724O16.1	170051839	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.012000	0.93624	2.094000	0.63399	0.533000	0.62120	ACA		0.343	BBS5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255265.2	NM_152384		G	170343593	A	G	170343593	3	3	742	1	0	0	0	0	1	0	0	0	1340	43	2	3	167	3	BBS5	2	170343593	Missense_Mutation	SNP	A	TCGA-KN-8436-01A-11D-2310-10	41398497	170343593	72855780	8	43319											
GLS	2744	broad.mit.edu	37	2	191765397	191765397	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr2:191765397C>T	ENST00000320717.3	+	4	971	c.713C>T	c.(712-714)gCt>gTt	p.A238V	GLS_ENST00000338435.4_Missense_Mutation_p.A238V	NM_014905.4	NP_055720.3	O94925	GLSK_HUMAN	glutaminase	238					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate secretion (GO:0014047)|glutamine catabolic process (GO:0006543)|neurotransmitter secretion (GO:0007269)|protein homotetramerization (GO:0051289)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|small molecule metabolic process (GO:0044281)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glutaminase activity (GO:0004359)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamine(DB00130)	TATGAAAGTGCTAAAAAGCAG	0.328																																																0													120	115	117					2																	191765397		2203	4299	6502	SO:0001583	missense	2744			AB020645	CCDS2308.1, CCDS58744.1	2q32-q34	2013-01-10			ENSG00000115419	ENSG00000115419	3.5.1.2	"Ankyrin repeat domain containing"	4331	protein-coding gene	gene with protein product		138280				10048485	Standard	NM_014905		Approved	KIAA0838, GLS1	uc002usf.3	O94925	OTTHUMG00000132701	ENST00000320717.3:c.713C>T	2.37:g.191765397C>T	ENSP00000317379:p.Ala238Val		Q9UL05|Q9UL06|Q9UL07|Q9UN40	Missense_Mutation	SNP	ENST00000320717.3	37	CCDS2308.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.768840	0.49680	.	.	ENSG00000115419	ENST00000320717;ENST00000338435	T;T	0.42131	0.98;0.98	5.49	5.49	0.81192	Beta-lactamase/transpeptidase-like (1);	0.058328	0.64402	D	0.000002	T	0.38558	0.1045	L	0.42245	1.32	0.80722	D	1	B;B	0.17268	0.003;0.021	B;B	0.16722	0.002;0.016	T	0.17107	-1.0380	10	0.16420	T	0.52	-15.4944	19.736	0.96205	0.0:1.0:0.0:0.0	.	238;238	O94925;O94925-3	GLSK_HUMAN;.	V	238	ENSP00000317379:A238V;ENSP00000340689:A238V	ENSP00000317379:A238V	A	+	2	0	GLS	191473642	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.824000	0.62701	2.732000	0.93576	0.557000	0.71058	GCT		0.328	GLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255999.2			T	191765397	C	T	191765397	3	4	742	1	0	0	0	0	1	0	0	0	6465	797	28	2	727	2	GLS	2	191765397	Missense_Mutation	SNP	C	TCGA-KN-8436-01A-11D-2310-10	21421804	191765397	51433976	9	43320											
GAL3ST2	64090	broad.mit.edu	37	2	242743069	242743070	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	CA	CA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr2:242743069_242743070delCA	ENST00000192314.6	+	4	816_817	c.685_686delCA	c.(685-687)cacfs	p.H229fs	AC114730.5_ENST00000437438.1_RNA	NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	229	Arg-rich.				biosynthetic process (GO:0009058)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)			endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		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;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		CATCGCCGAGCACCTGGACGAG	0.733																																																0																																										SO:0001589	frameshift_variant	64090			AB040610	CCDS33427.1	2q37.2	2014-05-19			ENSG00000154252	ENSG00000154252		"Sulfotransferases, membrane-bound"	24869	protein-coding gene	gene with protein product		608237				11029462	Standard	NM_022134		Approved	GP3ST	uc002wcj.1	Q9H3Q3	OTTHUMG00000151473	ENST00000192314.6:c.685_686delCA	2.37:g.242743069_242743070delCA	ENSP00000192314:p.His229fs		Q17RK0|Q57Z52	Frame_Shift_Del	DEL	ENST00000192314.6	37	CCDS33427.1																																																																																				0.733	GAL3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322792.1	NM_022134		-	242743070	CA	-	242743069	7	5	742	1	0	1	0	1	0	0	0	0	6200	710	25	0	699	0	GAL3ST2	2	242743069	Frame_Shift_Del	DEL	CA	TCGA-KN-8436-01A-11D-2310-10	50977672	242743069	456304	10	43321											
IL5RA	3568	mdanderson.org	37	3	3144422	3144422	+	Silent	SNP	A	A	G			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr3:3144422A>G	ENST00000446632.2	-	4	739	c.165T>C	c.(163-165)gaT>gaC	p.D55D	IL5RA_ENST00000256452.3_Silent_p.D55D|SNORA43_ENST00000517240.1_RNA|IL5RA_ENST00000383846.1_Silent_p.D55D|IL5RA_ENST00000418488.2_Silent_p.D55D|IL5RA_ENST00000445864.2_Silent_p.D55D|IL5RA_ENST00000456302.1_Silent_p.D55D|IL5RA_ENST00000311981.8_Silent_p.D55D|IL5RA_ENST00000430514.2_Silent_p.D55D|IL5RA_ENST00000438560.1_Silent_p.D55D	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	55	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)		TTTGCTCTTGATCAGGATTTG	0.333																																					GBM(169;430 2801 24955 28528)											0													96	94	95					3																	3144422		2203	4300	6503	SO:0001819	synonymous_variant	3568			M96652	CCDS2559.1, CCDS2560.1, CCDS46739.1, CCDS58813.1	3p26-p24	2008-01-11			ENSG00000091181	ENSG00000091181		"Interleukins and interleukin receptors", "CD molecules"	6017	protein-coding gene	gene with protein product		147851		IL5R		1732409	Standard	NM_175727		Approved	CDw125, CD125	uc010hbs.3	Q01344	OTTHUMG00000090245	ENST00000446632.2:c.165T>C	3.37:g.3144422A>G			B3IU77|B4E2G0|Q14633|Q15469|Q6ISX9	Silent	SNP	ENST00000446632.2	37	CCDS2559.1																																																																																				0.333	IL5RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337537.2			G	3144422	A	G	3144422	2	3	742	1	0	0	0	0	0	0	0	1	7702	330	12	3		3	IL5RA	3	3144422	Silent	SNP	A	TCGA-KN-8436-01A-11D-2310-10		3144422	194878008	11	43322											
ITPR1	3708	mdanderson.org	37	3	4856848	4856848	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr3:4856848A>G	ENST00000443694.2	+	56	7768	c.7768A>G	c.(7768-7770)Agg>Ggg	p.R2590G	ITPR1_ENST00000463980.1_3'UTR|AC018816.3_ENST00000441894.1_Intron|ITPR1_ENST00000456211.2_Missense_Mutation_p.R2542G|AC018816.3_ENST00000449914.1_Intron|ITPR1_ENST00000302640.8_Missense_Mutation_p.R2590G|AC018816.3_ENST00000489771.1_Intron|ITPR1_ENST00000423119.2_Missense_Mutation_p.R2557G|ITPR1_ENST00000544951.1_Missense_Mutation_p.R568G|ITPR1_ENST00000354582.6_Missense_Mutation_p.R2590G|ITPR1_ENST00000357086.4_Missense_Mutation_p.R2557G			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2605					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)	TGCTGACCTGAGGAGTGAGAA	0.468																																																0													129	127	128					3																	4856848		2137	4272	6409	SO:0001583	missense	3708			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"Ion channels / Inositol triphosphate receptors"	6180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 94"	147265	"spinocerebellar ataxia 15", "spinocerebellar ataxia 16", "spinocerebellar ataxia 29"	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.7768A>G	3.37:g.4856848A>G	ENSP00000401671:p.Arg2590Gly		E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.395866	0.83011	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000544951;ENST00000443694	D;D;D;D;D;D;D	0.99329	-4.26;-4.28;-4.27;-4.27;-4.25;-5.75;-4.26	4.84	3.66	0.41972	.	0.000000	0.85682	D	0.000000	D	0.99569	0.9845	H	0.96889	3.9	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;1.0	D	0.98406	1.0570	10	0.87932	D	0	.	11.591	0.50945	0.8503:0.1497:0.0:0.0	.	568;2605;2557	B7ZMI3;Q14643;G5E9P1	.;ITPR1_HUMAN;.	G	2605;2590;2590;2557;1051;2557;2542;568;2590	ENSP00000306253:R2590G;ENSP00000346595:R2590G;ENSP00000405934:R2557G;ENSP00000349597:R2557G;ENSP00000397885:R2542G;ENSP00000440564:R568G;ENSP00000401671:R2590G	ENSP00000306253:R2590G	R	+	1	2	ITPR1	4831848	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.213000	0.72194	0.666000	0.31087	0.383000	0.25322	AGG		0.468	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		G	4856848	A	G	4856848	3	3	742	1	0	0	0	0	1	0	0	0	7922	295	11	3	8039	3	ITPR1	3	4856848	Missense_Mutation	SNP	A	TCGA-KN-8436-01A-11D-2310-10	1712426	4856848	193165582	12	43323											
UBP1	7342	mdanderson.org	37	3	33454243	33454243	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr3:33454243T>C	ENST00000283629.3	-	4	948	c.419A>G	c.(418-420)aAt>aGt	p.N140S	UBP1_ENST00000447368.2_Missense_Mutation_p.N140S|UBP1_ENST00000283628.5_Missense_Mutation_p.N140S|RNU7-110P_ENST00000516891.1_RNA	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	140					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						TCCTGGGCGATTCCACTTCCA	0.438																																																0													275	238	251					3																	33454243		2203	4300	6503	SO:0001583	missense	7342			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.419A>G	3.37:g.33454243T>C	ENSP00000283629:p.Asn140Ser		Q68CT0|Q86Y57|Q9H8V0|Q9UD76|Q9UD78	Missense_Mutation	SNP	ENST00000283629.3	37	CCDS2659.1	.	.	.	.	.	.	.	.	.	.	T	11.62	1.694091	0.30052	.	.	ENSG00000153560	ENST00000283629;ENST00000447368;ENST00000283628;ENST00000456378	T;T;T;T	0.16743	2.32;2.32;2.32;2.32	6.17	3.8	0.43715	CP2 transcription factor (1);	0.043738	0.85682	D	0.000000	T	0.07188	0.0182	N	0.11673	0.155	0.53688	D	0.999978	B;B	0.27971	0.196;0.001	B;B	0.23419	0.046;0.016	T	0.14839	-1.0458	10	0.02654	T	1	-24.3373	10.7985	0.46474	0.0:0.1286:0.0:0.8714	.	140;140	Q9NZI7-4;Q9NZI7	.;UBIP1_HUMAN	S	140	ENSP00000283629:N140S;ENSP00000395558:N140S;ENSP00000283628:N140S;ENSP00000401614:N140S	ENSP00000283628:N140S	N	-	2	0	UBP1	33429247	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.292000	0.72725	1.163000	0.42636	0.533000	0.62120	AAT		0.438	UBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253249.2	NM_014517		C	33454243	T	C	33454243	3	2	742	1	0	0	0	0	1	0	0	0	16900	1493	52	3	1255	3	UBP1	3	33454243	Missense_Mutation	SNP	T	TCGA-KN-8436-01A-11D-2310-10	28597395	33454243	164568187	13	43324											
CDCP1	64866	mdanderson.org	37	3	45136963	45136963	+	Silent	SNP	A	A	G			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr3:45136963A>G	ENST00000296129.1	-	5	1256	c.1122T>C	c.(1120-1122)tgT>tgC	p.C374C		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	374						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)		GACACACGAAACAGCCAGGGA	0.502																																																0													146	129	135					3																	45136963		2203	4300	6503	SO:0001819	synonymous_variant	64866			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.1122T>C	3.37:g.45136963A>G			Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2	Silent	SNP	ENST00000296129.1	37	CCDS2727.1																																																																																				0.502	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256748.3	NM_022842		G	45136963	A	G	45136963	2	3	742	1	0	0	0	0	0	0	0	1	3095	41	2	3		3	CDCP1	3	45136963	Silent	SNP	A	TCGA-KN-8436-01A-11D-2310-10	11682720	45136963	152885467	14	43325											
CELSR3	1951	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	3	48681698	48681698	+	Missense_Mutation	SNP	G	G	A	rs373490754		TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr3:48681698G>A	ENST00000164024.4	-	27	8396	c.8116C>T	c.(8116-8118)Cgc>Tgc	p.R2706C	CELSR3_ENST00000544264.1_Missense_Mutation_p.R2711C|MIR4793_ENST00000577502.1_RNA	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2706					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)		CAGGATGTGCGGGCAGCGAGG	0.622													g|||	1	0.000199681	0.0	0.0	5008	,	,		18242	0.0		0.0	False		,,,				2504	0.001															0									CYS/ARG	0,4406		0,0,2203	63	59	60		8116	4.2	1	3		60	1,8595	1.2+/-3.3	0,1,4297	no	missense	CELSR3	NM_001407.2	180	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	2706/3313	48681698	1,13001	2203	4298	6501	SO:0001583	missense	1951			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3230	protein-coding gene	gene with protein product	"flamingo homolog 1 (Drosophila)"	604264	"cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.8116C>T	3.37:g.48681698G>A	ENSP00000164024:p.Arg2706Cys		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	g	25.2	4.612736	0.87258	0.0	1.16E-4	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.44482	0.92;0.92	5.13	4.16	0.48862	GPCR, family 2-like (1);	.	.	.	.	T	0.61048	0.2316	M	0.83692	2.655	0.41257	D	0.986755	D;D	0.65815	0.99;0.995	P;P	0.61070	0.883;0.745	T	0.67011	-0.5778	9	0.87932	D	0	.	10.4662	0.44609	0.0:0.0:0.5547:0.4453	.	2706;2803	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	C	2706;2711	ENSP00000164024:R2706C;ENSP00000445694:R2711C	ENSP00000164024:R2706C	R	-	1	0	CELSR3	48656702	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.969000	0.63735	2.382000	0.81193	0.556000	0.70494	CGC		0.622	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		A	48681698	G	A	48681698	3	1	742	1	0	0	0	0	1	0	0	0	3225	1116	39	1	1858	1	CELSR3	3	48681698	Missense_Mutation	SNP	G	TCGA-KN-8436-01A-11D-2310-10	3544735	48681698	149340732	15	43326											
IFT80	57560	mdanderson.org	37	3	160095234	160095234	+	Silent	SNP	T	T	C			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr3:160095234T>C	ENST00000326448.7	-	4	786	c.354A>G	c.(352-354)ggA>ggG	p.G118G	RP11-432B6.3_ENST00000483754.1_Intron|IFT80_ENST00000483465.1_5'UTR|IFT80_ENST00000496589.1_5'UTR|IFT80_ENST00000477495.1_5'UTR	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80	118					bone morphogenesis (GO:0060349)|chondrocyte differentiation (GO:0002062)|cilium assembly (GO:0042384)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|osteoblast differentiation (GO:0001649)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CTAATGCTGTTCCTTCATAAT	0.313																																																0													118	110	113					3																	160095234		2202	4300	6502	SO:0001819	synonymous_variant	57560			AB037795	CCDS3188.1, CCDS54668.1	3q25.33	2014-07-03	2014-07-03	2005-11-02	ENSG00000068885	ENSG00000068885		"Intraflagellar transport homologs", "WD repeat domain containing"	29262	protein-coding gene	gene with protein product		611177	"WD repeat domain 56", "intraflagellar transport 80 homolog (Chlamydomonas)"	WDR56		10718198	Standard	NM_020800		Approved	KIAA1374	uc021xgq.1	Q9P2H3	OTTHUMG00000158953	ENST00000326448.7:c.354A>G	3.37:g.160095234T>C			B4E0K1|C9J8I0|Q3MJC4|Q86YF4|Q9UIX1	Silent	SNP	ENST00000326448.7	37	CCDS3188.1																																																																																				0.313	IFT80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352651.2	NM_020800		C	160095234	T	C	160095234	2	2	742	1	0	0	0	0	0	0	0	1	7566	1770	62	3		3	IFT80	3	160095234	Silent	SNP	T	TCGA-KN-8436-01A-11D-2310-10	111413536	160095234	37927196	16	43327											
NAALADL2	254827	mdanderson.org	37	3	175042057	175042057	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr3:175042057T>C	ENST00000454872.1	+	5	1161	c.1033T>C	c.(1033-1035)Ttc>Ctc	p.F345L	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	345						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)		CCATGATACCTTCATGGTGTC	0.423																																																0													189	185	186					3																	175042057		1905	4118	6023	SO:0001583	missense	254827				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.1033T>C	3.37:g.175042057T>C	ENSP00000404705:p.Phe345Leu		Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Missense_Mutation	SNP	ENST00000454872.1	37	CCDS46960.1	.	.	.	.	.	.	.	.	.	.	T	18.68	3.676734	0.67928	.	.	ENSG00000177694	ENST00000454872	T	0.39787	1.06	5.58	5.58	0.84498	.	0.081678	0.52532	D	0.000076	T	0.54532	0.1864	L	0.49126	1.545	0.34876	D	0.744096	D	0.69078	0.997	D	0.75020	0.985	T	0.57923	-0.7727	10	0.11794	T	0.64	-15.9193	14.3279	0.66532	0.0:0.0:0.0:1.0	.	345	Q58DX5	NADL2_HUMAN	L	345	ENSP00000404705:F345L	ENSP00000404705:F345L	F	+	1	0	NAALADL2	176524751	1.000000	0.71417	0.896000	0.35187	0.956000	0.61745	5.751000	0.68720	2.122000	0.65172	0.460000	0.39030	TTC		0.423	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347390.2	NM_207015		C	175042057	T	C	175042057	3	2	742	1	0	0	0	0	1	0	0	0	10132	1609	56	3	1051	3	NAALADL2	3	175042057	Missense_Mutation	SNP	T	TCGA-KN-8436-01A-11D-2310-10	14946823	175042057	22980373	17	43328											
MFN1	55669	mdanderson.org	37	3	179085853	179085853	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr3:179085853A>G	ENST00000471841.1	+	9	1063	c.937A>G	c.(937-939)Aga>Gga	p.R313G	MFN1_ENST00000263969.5_Missense_Mutation_p.R313G|MFN1_ENST00000280653.7_Missense_Mutation_p.R313G	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	313	Dynamin-type G.				mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			ATTTCATGCAAGATTACAGGA	0.348																																																0													75	76	75					3																	179085853		2203	4299	6502	SO:0001583	missense	55669			AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.937A>G	3.37:g.179085853A>G	ENSP00000420617:p.Arg313Gly		B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Missense_Mutation	SNP	ENST00000471841.1	37	CCDS3228.1	.	.	.	.	.	.	.	.	.	.	A	15.61	2.885753	0.51908	.	.	ENSG00000171109	ENST00000471841;ENST00000280653;ENST00000539169;ENST00000263969;ENST00000474903	D;D;D;D	0.95518	-3.73;-3.73;-3.73;-3.71	5.34	4.14	0.48551	.	0.042672	0.85682	D	0.000000	D	0.97623	0.9221	M	0.87547	2.89	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.995	D;P;P	0.83275	0.996;0.827;0.765	D	0.97606	1.0126	10	0.72032	D	0.01	-7.2796	11.8202	0.52235	0.7228:0.2772:0.0:0.0	.	313;341;313	Q8IWA4-3;Q4AEJ4;Q8IWA4	.;.;MFN1_HUMAN	G	313;313;313;313;176	ENSP00000420617:R313G;ENSP00000280653:R313G;ENSP00000263969:R313G;ENSP00000419926:R176G	ENSP00000263969:R313G	R	+	1	2	MFN1	180568547	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.269000	0.43346	0.914000	0.36822	0.528000	0.53228	AGA		0.348	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2	NM_017927		G	179085853	A	G	179085853	3	3	742	1	0	0	0	0	1	0	0	0	9525	64	3	3	967	3	MFN1	3	179085853	Missense_Mutation	SNP	A	TCGA-KN-8436-01A-11D-2310-10	4043796	179085853	18936577	18	43329											
ATP13A3	79572	broad.mit.edu;mdanderson.org	37	3	194158061	194158061	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr3:194158061C>T	ENST00000439040.1	-	19	2769	c.1978G>A	c.(1978-1980)Ggt>Agt	p.G660S	ATP13A3_ENST00000256031.4_Missense_Mutation_p.G660S			Q9H7F0	AT133_HUMAN	ATPase type 13A3	660						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)		TTACAGAGACCGGCAATGGCC	0.443																																																0													119	119	119					3																	194158061		1849	4091	5940	SO:0001583	missense	79572			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.1978G>A	3.37:g.194158061C>T	ENSP00000416508:p.Gly660Ser		Q8NC11|Q96KS1	Missense_Mutation	SNP	ENST00000439040.1	37	CCDS43187.1	.	.	.	.	.	.	.	.	.	.	C	5.577	0.291253	0.10567	.	.	ENSG00000133657	ENST00000439040;ENST00000256031;ENST00000310773	T;T	0.69685	-0.42;-0.42	6.08	1.04	0.20106	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.149212	0.85682	N	0.000000	T	0.28599	0.0708	N	0.01076	-1.035	0.24675	N	0.993396	B	0.02656	0.0	B	0.04013	0.001	T	0.36163	-0.9759	10	0.02654	T	1	0.4724	10.721	0.46040	0.0:0.2926:0.0:0.7074	.	660	Q9H7F0	AT133_HUMAN	S	660;660;398	ENSP00000416508:G660S;ENSP00000256031:G660S	ENSP00000256031:G660S	G	-	1	0	ATP13A3	195639350	0.992000	0.36948	0.992000	0.48379	0.799000	0.45148	0.520000	0.22878	0.187000	0.20147	-0.294000	0.09567	GGT		0.443	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2	NM_024524		T	194158061	C	T	194158061	3	4	742	1	0	0	0	0	1	0	0	0	1125	652	23	1	1762	1	ATP13A3	3	194158061	Missense_Mutation	SNP	C	TCGA-KN-8436-01A-11D-2310-10	15072208	194158061	3864369	19	43330											
PAK2	5062	mdanderson.org	37	3	196530022	196530022	+	Silent	SNP	C	C	T	rs115224945	byFrequency	TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr3:196530022C>T	ENST00000327134.3	+	4	745	c.423C>T	c.(421-423)agC>agT	p.S141S		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	141					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:2001271)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of defense response to virus by virus (GO:0050690)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activator activity (GO:0030296)			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		AATATCTGAGCTTTACTCCTC	0.418																																																0													85	79	81					3																	196530022		2203	4300	6503	SO:0001819	synonymous_variant	5062			U24153	CCDS3321.1	3q29	2008-06-17	2008-06-17			ENSG00000180370	2.7.11.1		8591	protein-coding gene	gene with protein product	"S6/H4 kinase"	605022	"p21 (CDKN1A)-activated kinase 2"			7744004, 7618083	Standard	NM_002577		Approved	PAK65, PAKgamma	uc003fwy.4	Q13177		ENST00000327134.3:c.423C>T	3.37:g.196530022C>T			Q13154|Q6ISC3	Silent	SNP	ENST00000327134.3	37	CCDS3321.1																																																																																				0.418	PAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340548.1	NM_002577		T	196530022	C	T	196530022	2	4	742	1	0	0	0	0	0	0	0	1	11403	796	28	2		2	PAK2	3	196530022	Silent	SNP	C	TCGA-KN-8436-01A-11D-2310-10	2371961	196530022	1492408	20	43331											
ZNF141	7700	mdanderson.org	37	4	367169	367169	+	Missense_Mutation	SNP	G	G	A	rs145966198		TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr4:367169G>A	ENST00000240499.7	+	4	1092	c.943G>A	c.(943-945)Gaa>Aaa	p.E315K	ZNF141_ENST00000512994.1_Intron|ZNF141_ENST00000505939.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	315					anatomical structure morphogenesis (GO:0009653)|limb morphogenesis (GO:0035108)|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)			breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						CAAATGTGAAGAATGTGGCAA	0.388																																																0																																										SO:0001583	missense	7700			L15309	CCDS33931.1	4p16.3	2013-01-08	2006-06-13			ENSG00000131127		"Zinc fingers, C2H2-type", "-"	12926	protein-coding gene	gene with protein product		194648	"zinc finger protein 141 (clone pHZ-44)"	D4S90		8268908	Standard	NM_003441		Approved	pHZ-44	uc003gaa.2	Q15928		ENST00000240499.7:c.943G>A	4.37:g.367169G>A	ENSP00000240499:p.Glu315Lys		Q6DK07	Missense_Mutation	SNP	ENST00000240499.7	37	CCDS33931.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.327325	0.41197	.	.	ENSG00000131127	ENST00000240499	T	0.07327	3.2	1.24	1.24	0.21308	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13030	0.0316	L	0.42487	1.325	0.80722	P	0.0	P	0.39624	0.681	P	0.51833	0.681	T	0.18871	-1.0323	7	.	.	.	.	7.8922	0.29684	0.0:0.0:1.0:0.0	.	315	Q15928	ZN141_HUMAN	K	315	ENSP00000240499:E315K	.	E	+	1	0	ZNF141	357169	0.000000	0.05858	0.076000	0.20297	0.968000	0.65278	-0.068000	0.11561	0.591000	0.29711	0.313000	0.20887	GAA		0.388	ZNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357710.1	NM_003441		A	367169	G	A	367169	3	1	742	1	0	0	0	0	1	0	0	0	17735	943	33	2	957	2	ZNF141	4	367169	Missense_Mutation	SNP	G	TCGA-KN-8436-01A-11D-2310-10		367169	190787107	21	43332											
ZNF141	7700	mdanderson.org	37	4	367199	367199	+	Missense_Mutation	SNP	A	A	T	rs114931928		TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr4:367199A>T	ENST00000240499.7	+	4	1122	c.973A>T	c.(973-975)Acc>Tcc	p.T325S	ZNF141_ENST00000512994.1_Intron|ZNF141_ENST00000505939.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	325					anatomical structure morphogenesis (GO:0009653)|limb morphogenesis (GO:0035108)|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)			breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						TAGGTCCACAACCCTTACTAA	0.383																																																0													56	62	60					4																	367199		2197	4296	6493	SO:0001583	missense	7700			L15309	CCDS33931.1	4p16.3	2013-01-08	2006-06-13			ENSG00000131127		"Zinc fingers, C2H2-type", "-"	12926	protein-coding gene	gene with protein product		194648	"zinc finger protein 141 (clone pHZ-44)"	D4S90		8268908	Standard	NM_003441		Approved	pHZ-44	uc003gaa.2	Q15928		ENST00000240499.7:c.973A>T	4.37:g.367199A>T	ENSP00000240499:p.Thr325Ser		Q6DK07	Missense_Mutation	SNP	ENST00000240499.7	37	CCDS33931.1	.	.	.	.	.	.	.	.	.	.	A	3.741	-0.053524	0.07362	.	.	ENSG00000131127	ENST00000240499	T	0.07216	3.21	1.24	-0.0286	0.13921	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03220	0.0094	N	0.04636	-0.2	0.09310	N	1	B	0.19200	0.034	B	0.22152	0.038	T	0.47995	-0.9073	8	.	.	.	.	4.1736	0.10341	0.7434:0.0:0.2566:0.0	.	325	Q15928	ZN141_HUMAN	S	325	ENSP00000240499:T325S	.	T	+	1	0	ZNF141	357199	0.000000	0.05858	0.216000	0.23742	0.983000	0.72400	-6.049000	0.00083	0.495000	0.27882	0.260000	0.18958	ACC		0.383	ZNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357710.1	NM_003441		T	367199	A	T	367199	3	4	742	1	0	0	0	0	1	0	0	0	17735	43	2	5	987	5	ZNF141	4	367199	Missense_Mutation	SNP	A	TCGA-KN-8436-01A-11D-2310-10	30	367199	190787077	22	43333	418	3									
ZNF141	7700	mdanderson.org	37	4	367201	367201	+	Silent	SNP	C	C	A	rs111394409		TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr4:367201C>A	ENST00000240499.7	+	4	1124	c.975C>A	c.(973-975)acC>acA	p.T325T	ZNF141_ENST00000512994.1_Intron|ZNF141_ENST00000505939.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	325					anatomical structure morphogenesis (GO:0009653)|limb morphogenesis (GO:0035108)|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)			breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						GGTCCACAACCCTTACTAAAC	0.383																																																0													56	61	59					4																	367201		2198	4296	6494	SO:0001819	synonymous_variant	7700			L15309	CCDS33931.1	4p16.3	2013-01-08	2006-06-13			ENSG00000131127		"Zinc fingers, C2H2-type", "-"	12926	protein-coding gene	gene with protein product		194648	"zinc finger protein 141 (clone pHZ-44)"	D4S90		8268908	Standard	NM_003441		Approved	pHZ-44	uc003gaa.2	Q15928		ENST00000240499.7:c.975C>A	4.37:g.367201C>A			Q6DK07	Silent	SNP	ENST00000240499.7	37	CCDS33931.1																																																																																				0.383	ZNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357710.1	NM_003441		A	367201	C	A	367201	2	1	742	1	0	0	0	0	0	0	0	1	17735	610	22	4		4	ZNF141	4	367201	Silent	SNP	C	TCGA-KN-8436-01A-11D-2310-10	2	367201	190787075	23	43334	418	3									
ZNF141	7700	mdanderson.org	37	4	367206	367206	+	Missense_Mutation	SNP	C	C	G	rs113884485		TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr4:367206C>G	ENST00000240499.7	+	4	1129	c.980C>G	c.(979-981)aCt>aGt	p.T327S	ZNF141_ENST00000512994.1_Intron|ZNF141_ENST00000505939.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	327					anatomical structure morphogenesis (GO:0009653)|limb morphogenesis (GO:0035108)|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)			breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						ACAACCCTTACTAAACATAAG	0.378																																																0													53	58	56					4																	367206		2200	4295	6495	SO:0001583	missense	7700			L15309	CCDS33931.1	4p16.3	2013-01-08	2006-06-13			ENSG00000131127		"Zinc fingers, C2H2-type", "-"	12926	protein-coding gene	gene with protein product		194648	"zinc finger protein 141 (clone pHZ-44)"	D4S90		8268908	Standard	NM_003441		Approved	pHZ-44	uc003gaa.2	Q15928		ENST00000240499.7:c.980C>G	4.37:g.367206C>G	ENSP00000240499:p.Thr327Ser		Q6DK07	Missense_Mutation	SNP	ENST00000240499.7	37	CCDS33931.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.468247	0.26335	.	.	ENSG00000131127	ENST00000240499	T	0.35973	1.28	1.24	0.227	0.15359	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14700	0.0355	N	0.10733	0.035	0.09310	N	1	B	0.14012	0.009	B	0.15870	0.014	T	0.27502	-1.0072	8	.	.	.	.	3.3488	0.07145	0.0:0.4599:0.0:0.5401	.	327	Q15928	ZN141_HUMAN	S	327	ENSP00000240499:T327S	.	T	+	2	0	ZNF141	357206	0.000000	0.05858	0.576000	0.28549	0.982000	0.71751	-2.477000	0.00985	0.591000	0.29711	0.313000	0.20887	ACT		0.378	ZNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357710.1	NM_003441		G	367206	C	G	367206	3	3	742	1	0	0	0	0	1	0	0	0	17735	565	20	4	994	4	ZNF141	4	367206	Missense_Mutation	SNP	C	TCGA-KN-8436-01A-11D-2310-10	5	367206	190787070	24	43335	418	3									
UGT2B4	7363	mdanderson.org	37	4	70360910	70360910	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr4:70360910A>G	ENST00000305107.6	-	1	716	c.670T>C	c.(670-672)Ttc>Ctc	p.F224L	UGT2B4_ENST00000381096.3_Missense_Mutation_p.F88L|UGT2B4_ENST00000506580.1_Intron|UGT2B4_ENST00000512583.1_Missense_Mutation_p.F224L	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	224					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)	AATATTTGGAACCAAAATTCA	0.338																																																0													62	62	62					4																	70360910		2188	4298	6486	SO:0001583	missense	7363			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.670T>C	4.37:g.70360910A>G	ENSP00000305221:p.Phe224Leu		A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Missense_Mutation	SNP	ENST00000305107.6	37	CCDS43234.1	.	.	.	.	.	.	.	.	.	.	A	8.544	0.874021	0.17395	.	.	ENSG00000156096	ENST00000512583;ENST00000305107;ENST00000381096	T;T;T	0.60548	0.18;0.18;0.18	2.4	1.23	0.21249	.	0.314649	0.25329	U	0.031448	T	0.55721	0.1938	M	0.66378	2.025	0.09310	N	1	B;B;B	0.25272	0.057;0.002;0.122	B;B;B	0.39152	0.057;0.041;0.292	T	0.51787	-0.8661	10	0.42905	T	0.14	.	5.3485	0.16022	0.837:0.0:0.163:0.0	.	88;224;224	A6NCP7;G5E9X8;P06133	.;.;UD2B4_HUMAN	L	224;224;88	ENSP00000421290:F224L;ENSP00000305221:F224L;ENSP00000370486:F88L	ENSP00000305221:F224L	F	-	1	0	UGT2B4	70395499	0.000000	0.05858	0.061000	0.19648	0.011000	0.07611	0.099000	0.15210	1.101000	0.41535	0.248000	0.18094	TTC		0.338	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	NM_021139		G	70360910	A	G	70360910	3	3	742	1	0	0	0	0	1	0	0	0	16966	43	2	3	940	3	UGT2B4	4	70360910	Missense_Mutation	SNP	A	TCGA-KN-8436-01A-11D-2310-10	69993704	70360910	120793366	25	43336											
C4orf40	401137	mdanderson.org	37	4	71021777	71021777	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr4:71021777T>C	ENST00000344526.5	+	2	247	c.58T>C	c.(58-60)Ttc>Ctc	p.F20L	C4orf40_ENST00000502441.2_3'UTR|C4orf40_ENST00000502294.1_Missense_Mutation_p.F20L	NM_214711.3	NP_999876.2	Q6MZM9	PRR27_HUMAN		20						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						TTAGAGACGGTTCCCCTTCAT	0.264																																																0													38	40	39					4																	71021777		2197	4280	6477	SO:0001583	missense	401137																														ENST00000344526.5:c.58T>C	4.37:g.71021777T>C	ENSP00000343172:p.Phe20Leu		A8MXP0|Q6MZR6	Missense_Mutation	SNP	ENST00000344526.5	37	CCDS3535.1	.	.	.	.	.	.	.	.	.	.	T	11.91	1.779120	0.31502	.	.	ENSG00000187533	ENST00000502294;ENST00000344526	T;T	0.38560	1.13;1.13	3.32	0.843	0.18935	.	.	.	.	.	T	0.23727	0.0574	N	0.19112	0.55	0.09310	N	1	B	0.19817	0.039	B	0.14578	0.011	T	0.18053	-1.0349	9	0.33940	T	0.23	-0.0543	5.1565	0.15038	0.0:0.2532:0.0:0.7468	.	20	Q6MZM9	CD040_HUMAN	L	20	ENSP00000426249:F20L;ENSP00000343172:F20L	ENSP00000343172:F20L	F	+	1	0	C4orf40	71056366	0.009000	0.17119	0.000000	0.03702	0.007000	0.05969	0.718000	0.25866	0.190000	0.20209	0.491000	0.48974	TTC		0.264	C4orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251558.1			C	71021777	T	C	71021777	3	2	742	1	0	0	0	0	1	0	0	0	2271	1725	60	3	64	3	C4orf40	4	71021777	Missense_Mutation	SNP	T	TCGA-KN-8436-01A-11D-2310-10	660867	71021777	120132499	26	43337											
CDKL2	8999	mdanderson.org	37	4	76532490	76532490	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr4:76532490A>G	ENST00000429927.2	-	4	1122	c.419T>C	c.(418-420)gTc>gCc	p.V140A	CDKL2_ENST00000307465.4_Missense_Mutation_p.V140A	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	140	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				sex differentiation (GO:0007548)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			GCATAGCTTGACAACGCCAGA	0.418																																																0													89	82	84					4																	76532490		2203	4300	6503	SO:0001583	missense	8999			U35146	CCDS3570.1	4q21.21	2011-11-04			ENSG00000138769	ENSG00000138769		"Cyclin-dependent kinases"	1782	protein-coding gene	gene with protein product		603442				9000130	Standard	NM_003948		Approved	P56, KKIAMRE	uc003hiq.3	Q92772	OTTHUMG00000130103	ENST00000429927.2:c.419T>C	4.37:g.76532490A>G	ENSP00000412365:p.Val140Ala		B2R695	Missense_Mutation	SNP	ENST00000429927.2	37	CCDS3570.1	.	.	.	.	.	.	.	.	.	.	a	22.9	4.344614	0.82022	.	.	ENSG00000138769	ENST00000429927;ENST00000307465	T;T	0.49139	0.79;0.79	4.72	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);	.	.	.	.	T	0.41050	0.1142	N	0.21583	0.68	0.44123	D	0.996901	P;B	0.40931	0.733;0.277	P;B	0.44597	0.454;0.166	T	0.44967	-0.9293	9	0.72032	D	0.01	-4.7673	13.6112	0.62080	1.0:0.0:0.0:0.0	.	140;140	B4DH08;Q92772	.;CDKL2_HUMAN	A	140	ENSP00000412365:V140A;ENSP00000306340:V140A	ENSP00000306340:V140A	V	-	2	0	CDKL2	76751514	1.000000	0.71417	0.884000	0.34674	0.981000	0.71138	5.041000	0.64196	2.105000	0.64084	0.520000	0.50463	GTC		0.418	CDKL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252409.2	NM_003948		G	76532490	A	G	76532490	3	3	742	1	0	0	0	0	1	0	0	0	3156	275	10	3	1094	3	CDKL2	4	76532490	Missense_Mutation	SNP	A	TCGA-KN-8436-01A-11D-2310-10	5510713	76532490	114621786	27	43338											
CNOT6L	246175	mdanderson.org	37	4	78641756	78641756	+	Silent	SNP	G	G	A	rs537970000		TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr4:78641756G>A	ENST00000504123.1	-	12	1627	c.1497C>T	c.(1495-1497)aaC>aaT	p.N499N	CNOT6L_ENST00000264903.4_Silent_p.N499N			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	499	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						CACCAAGCACGTTCATATGAG	0.428													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20508	0.0		0.0	False		,,,				2504	0.0															0													147	142	144					4																	78641756		1919	4131	6050	SO:0001819	synonymous_variant	246175			AL133112	CCDS68731.1	4q13.3	2014-06-17				ENSG00000138767			18042	protein-coding gene	gene with protein product							Standard	NM_144571		Approved	DKFZp434K098, Ccr4b	uc003hks.3	Q96LI5		ENST00000504123.1:c.1497C>T	4.37:g.78641756G>A			Q9UF92	Silent	SNP	ENST00000504123.1	37																																																																																					0.428	CNOT6L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000362515.1			A	78641756	G	A	78641756	2	1	742	1	0	0	0	0	0	0	0	1	3625	1136	40	1		1	CNOT6L	4	78641756	Silent	SNP	G	TCGA-KN-8436-01A-11D-2310-10	2109266	78641756	112512520	28	43339											
DSPP	1834	bcgsc.ca	37	4	88537027	88537027	+	Missense_Mutation	SNP	C	C	A			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr4:88537027C>A	ENST00000282478.7	+	4	3246	c.3213C>A	c.(3211-3213)gaC>gaA	p.D1071E	DSPP_ENST00000399271.1_Missense_Mutation_p.D1071E|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1071	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		atagcagtgacagcagtgaca	0.542																																																0													56	66	63					4																	88537027		1577	2848	4425	SO:0001583	missense	1834			AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3213C>A	4.37:g.88537027C>A	ENSP00000282478:p.Asp1071Glu		A8MUI0|O95815	Missense_Mutation	SNP	ENST00000282478.7	37	CCDS43248.1	.	.	.	.	.	.	.	.	.	.	c	2.636	-0.285341	0.05605	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.88124	-2.34;-2.34	1.15	-2.31	0.06765	.	.	.	.	.	T	0.69196	0.3084	L	0.38175	1.15	0.09310	N	1	P	0.46952	0.887	B	0.36766	0.232	T	0.66364	-0.5942	9	0.02654	T	1	.	2.058	0.03586	0.2533:0.3578:0.0:0.3889	.	1071	Q9NZW4	DSPP_HUMAN	E	1071	ENSP00000382213:D1071E;ENSP00000282478:D1071E	ENSP00000282478:D1071E	D	+	3	2	DSPP	88756051	0.029000	0.19370	0.018000	0.16275	0.040000	0.13550	-0.117000	0.10708	-0.986000	0.03498	0.282000	0.19409	GAC		0.542	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		A	88537027	C	A	88537027	3	1	742	1	0	0	0	0	1	0	0	0	4784	477	17	4	3227	4	DSPP	4	88537027	Missense_Mutation	SNP	C	TCGA-KN-8436-01A-11D-2310-10	9895271	88537027	102617249	29	43340											
DSPP	1834	mdanderson.org	37	4	88537081	88537081	+	Silent	SNP	C	C	T	rs367717407|rs370267258	byFrequency	TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr4:88537081C>T	ENST00000282478.7	+	4	3300	c.3267C>T	c.(3265-3267)gaC>gaT	p.D1089D	DSPP_ENST00000399271.1_Silent_p.D1089D|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1089	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		atagcagtgacagcagcaata	0.537													c|||	838	0.167332	0.2292	0.2133	5008	,	,		14171	0.1131		0.1461	False		,,,				2504	0.1288															0								C		1383,707		577,229,239	19	24	22		3267	0.6	0	4		22	2123,1867		754,615,626	no	coding-synonymous	DSPP	NM_014208.3		1331,844,865	TT,TC,CC		46.792,33.8278,42.3355		1089/1302	88537081	3506,2574	1045	1995	3040	SO:0001819	synonymous_variant	1834			AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3267C>T	4.37:g.88537081C>T			A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	CCDS43248.1																																																																																				0.537	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		T	88537081	C	T	88537081	2	4	742	1	0	0	0	0	0	0	0	1	4784	477	17	2		2	DSPP	4	88537081	Silent	SNP	C	TCGA-KN-8436-01A-11D-2310-10	54	88537081	102617195	30	43341											
EIF4E	1977	mdanderson.org	37	4	99806181	99806181	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr4:99806181T>C	ENST00000450253.2	-	6	1955	c.431A>G	c.(430-432)gAc>gGc	p.D144G	EIF4E_ENST00000505992.1_Missense_Mutation_p.D175G|EIF4E_ENST00000280892.6_Missense_Mutation_p.D164G|EIF4E_ENST00000504432.1_Missense_Mutation_p.D172G	NM_001968.3	NP_001959.1	P06730	IF4E_HUMAN	eukaryotic translation initiation factor 4E	144					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)		ATCACTGTAGTCATCAAAAGA	0.338																																																0													56	51	53					4																	99806181		2203	4298	6501	SO:0001583	missense	1977			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.431A>G	4.37:g.99806181T>C	ENSP00000389624:p.Asp144Gly		B7Z6V1|D6RCQ6|Q96E95	Missense_Mutation	SNP	ENST00000450253.2	37	CCDS34031.1	.	.	.	.	.	.	.	.	.	.	T	17.79	3.475597	0.63737	.	.	ENSG00000151247	ENST00000450253;ENST00000280892;ENST00000504432;ENST00000505992	T;T;T;T	0.44083	0.93;0.93;0.93;1.59	5.05	5.05	0.67936	Translation Initiation factor eIF- 4e-like  domain (2);	0.046398	0.85682	D	0.000000	T	0.49440	0.1557	M	0.74881	2.28	0.80722	D	1	B;B;B	0.16603	0.018;0.005;0.003	B;B;B	0.30782	0.085;0.12;0.085	T	0.52208	-0.8606	10	0.59425	D	0.04	-11.665	14.8686	0.70437	0.0:0.0:0.0:1.0	.	175;164;144	P06730-2;B7Z6V1;P06730	.;.;IF4E_HUMAN	G	144;164;172;175	ENSP00000389624:D144G;ENSP00000280892:D164G;ENSP00000423977:D172G;ENSP00000425561:D175G	ENSP00000280892:D164G	D	-	2	0	EIF4E	100025204	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.850000	0.86915	1.910000	0.55303	0.451000	0.29950	GAC		0.338	EIF4E-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363739.1	NM_001968		C	99806181	T	C	99806181	3	2	742	1	0	0	0	0	1	0	0	0	5030	1667	58	3	230	3	EIF4E	4	99806181	Missense_Mutation	SNP	T	TCGA-KN-8436-01A-11D-2310-10	11269100	99806181	91348095	31	43342											
ENPEP	2028	mdanderson.org	37	4	111430851	111430851	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr4:111430851A>G	ENST00000265162.5	+	5	1424	c.1082A>G	c.(1081-1083)aAc>aGc	p.N361S	RP11-380D23.1_ENST00000503998.1_RNA	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	361	Substrate binding. {ECO:0000250}.				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)		GCCATGGAGAACTGGGGACTC	0.438																																																0													150	143	145					4																	111430851		2203	4300	6503	SO:0001583	missense	2028			L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"CD molecules"	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.1082A>G	4.37:g.111430851A>G	ENSP00000265162:p.Asn361Ser		Q504U2	Missense_Mutation	SNP	ENST00000265162.5	37	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	A	15.21	2.766774	0.49574	.	.	ENSG00000138792	ENST00000265162	T	0.07908	3.15	5.76	4.56	0.56223	Peptidase M1, membrane alanine aminopeptidase, N-terminal (2);	0.076730	0.85682	D	0.000000	T	0.41994	0.1183	H	0.96861	3.895	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.59473	-0.7448	10	0.87932	D	0	.	13.0524	0.58962	0.8655:0.1345:0.0:0.0	.	361	Q07075	AMPE_HUMAN	S	361	ENSP00000265162:N361S	ENSP00000265162:N361S	N	+	2	0	ENPEP	111650300	1.000000	0.71417	1.000000	0.80357	0.059000	0.15707	9.291000	0.96070	0.979000	0.38497	-0.316000	0.08728	AAC		0.438	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			G	111430851	A	G	111430851	3	3	742	1	0	0	0	0	1	0	0	0	5130	43	2	3	1100	3	ENPEP	4	111430851	Missense_Mutation	SNP	A	TCGA-KN-8436-01A-11D-2310-10	11624670	111430851	79723425	32	43343											
ABCE1	6059	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	4	146044440	146044440	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr4:146044440A>G	ENST00000296577.4	+	15	1963	c.1448A>G	c.(1447-1449)tAt>tGt	p.Y483C	ABCE1_ENST00000502803.1_3'UTR|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	483	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)					GCTGATGTCTATTTAATTGAT	0.423																																																0													84	85	85					4																	146044440		2203	4300	6503	SO:0001583	missense	6059			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.1448A>G	4.37:g.146044440A>G	ENSP00000296577:p.Tyr483Cys		O88793|Q13181|Q13864|Q6NR76|Q96AL0|Q96B10|Q99K66	Missense_Mutation	SNP	ENST00000296577.4	37	CCDS34071.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.133266	0.77662	.	.	ENSG00000164163	ENST00000296577	D	0.91686	-2.89	5.69	4.49	0.54785	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.96194	0.8759	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96356	0.9262	10	0.87932	D	0	.	13.1877	0.59691	0.8667:0.1333:0.0:0.0	.	483	P61221	ABCE1_HUMAN	C	483	ENSP00000296577:Y483C	ENSP00000296577:Y483C	Y	+	2	0	ABCE1	146263890	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.339000	0.96797	1.068000	0.40764	-0.313000	0.08912	TAT		0.423	ABCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365104.1	NM_002940		G	146044440	A	G	146044440	3	3	742	1	0	0	0	0	1	0	0	0	64	449	16	3	1502	3	ABCE1	4	146044440	Missense_Mutation	SNP	A	TCGA-KN-8436-01A-11D-2310-10	34613589	146044440	45109836	33	43344											
FHDC1	85462	mdanderson.org	37	4	153897154	153897154	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr4:153897154A>G	ENST00000511601.1	+	12	2899	c.2711A>G	c.(2710-2712)aAg>aGg	p.K904R	FHDC1_ENST00000260008.3_Missense_Mutation_p.K904R			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	904									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)					AGCATGCGCAAGGTCATGCCC	0.687																																																0													29	32	31					4																	153897154		2202	4299	6501	SO:0001583	missense	85462			AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.2711A>G	4.37:g.153897154A>G	ENSP00000427567:p.Lys904Arg			Missense_Mutation	SNP	ENST00000511601.1	37	CCDS34081.1	.	.	.	.	.	.	.	.	.	.	A	19.63	3.864262	0.71949	.	.	ENSG00000137460	ENST00000511601;ENST00000260008	T;T	0.61859	0.07;0.07	4.98	4.98	0.66077	.	0.724112	0.13319	N	0.396836	T	0.65801	0.2726	L	0.34521	1.04	0.58432	D	0.999996	D	0.89917	1.0	D	0.83275	0.996	T	0.57069	-0.7874	10	0.20519	T	0.43	.	14.6664	0.68910	1.0:0.0:0.0:0.0	.	904	Q9C0D6	FHDC1_HUMAN	R	904	ENSP00000427567:K904R;ENSP00000260008:K904R	ENSP00000260008:K904R	K	+	2	0	FHDC1	154116604	1.000000	0.71417	1.000000	0.80357	0.316000	0.28119	8.665000	0.91144	1.873000	0.54277	0.379000	0.24179	AAG		0.687	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	NM_033393		G	153897154	A	G	153897154	3	3	742	1	0	0	0	0	1	0	0	0	5878	72	3	3	2753	3	FHDC1	4	153897154	Missense_Mutation	SNP	A	TCGA-KN-8436-01A-11D-2310-10	7852714	153897154	37257122	34	43345											
TLR3	7098	mdanderson.org	37	4	187004362	187004362	+	Silent	SNP	T	T	C			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr4:187004362T>C	ENST00000296795.3	+	4	1626	c.1522T>C	c.(1522-1524)Ttg>Ctg	p.L508L	TLR3_ENST00000504367.1_Silent_p.L231L	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	508					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)		TCTTCGTAACTTGACCATTCT	0.448																																																0													102	105	104					4																	187004362		2203	4300	6503	SO:0001819	synonymous_variant	7098			U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"CD molecules"	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.1522T>C	4.37:g.187004362T>C			B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Silent	SNP	ENST00000296795.3	37	CCDS3846.1																																																																																				0.448	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360313.4			C	187004362	T	C	187004362	2	2	742	1	0	0	0	0	0	0	0	1	15957	1606	56	3		3	TLR3	4	187004362	Silent	SNP	T	TCGA-KN-8436-01A-11D-2310-10	33107208	187004362	4149914	35	43346											
FAT1	2195	broad.mit.edu;hgsc.bcm.edu	37	4	187584589	187584589	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr4:187584589delG	ENST00000441802.2	-	3	3653	c.3444delC	c.(3442-3444)atcfs	p.I1148fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1148	Cadherin 10. {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						AATTTTCCATGATTTCTGGGT	0.413										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)											0													176	169	171					4																	187584589		1895	4121	6016	SO:0001589	frameshift_variant	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.3444delC	4.37:g.187584589delG	ENSP00000406229:p.Ile1148fs			Frame_Shift_Del	DEL	ENST00000441802.2	37	CCDS47177.1																																																																																				0.413	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		-	187584589	G	-	187584589	7	5	742	1	0	1	0	1	0	0	0	0	5691	1280	45	0	10422	0	FAT1	4	187584589	Frame_Shift_Del	DEL	G	TCGA-KN-8436-01A-11D-2310-10	580227	187584589	3569687	36	43347	419	2									
FAT1	2195	bcgsc.ca	37	4	187584590	187584590	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr4:187584590delG	ENST00000441802.2	-	3	3652	c.3443delC	c.(3442-3444)accfs	p.T1148fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1148	Cadherin 10. {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						ATTTTCCATGATTTCTGGGTA	0.418										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)											0													178	170	173					4																	187584590		1897	4121	6018	SO:0001589	frameshift_variant	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.3443delC	4.37:g.187584590delG	ENSP00000406229:p.Thr1148fs			Frame_Shift_Del	DEL	ENST00000441802.2	37	CCDS47177.1																																																																																				0.418	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		-	187584590	G	-	187584590	7	5	742	1	0	1	0	1	0	0	0	0	5691	333	12	0	10423	0	FAT1	4	187584590	Frame_Shift_Del	DEL	G	TCGA-KN-8436-01A-11D-2310-10	1	187584590	3569686	37	43348	419	2									
NKD2	85409	broad.mit.edu	37	5	1038447	1038461	+	In_Frame_Del	DEL	CACCACCACCACCAC	CACCACCACCACCAC	-	rs3840989|rs143388141		TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	CACCACCACCACCAC	CACCACCACCACCAC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr5:1038447_1038461delCACCACCACCACCAC	ENST00000296849.5	+	10	1544_1558	c.1315_1329delCACCACCACCACCAC	c.(1315-1329)caccaccaccaccacdel	p.HHHHH439del	NKD2_ENST00000274150.4_3'UTR|NKD2_ENST00000382730.2_In_Frame_Del_p.PPPPP79del	NM_033120.3	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	439	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)			ccaccacgagcaccaccaccaccaccaccaccacc	0.688																																																0																																										SO:0001651	inframe_deletion	85409			AF358137	CCDS3859.1, CCDS59486.1	5p15.3	2013-01-10			ENSG00000145506	ENSG00000145506		"EF-hand domain containing"	17046	protein-coding gene	gene with protein product	"naked cuticle-2", "Dvl-binding protein NKD2"	607852				11356022, 11604995	Standard	NM_033120		Approved	Naked2	uc003jbt.2	Q969F2	OTTHUMG00000090348	ENST00000296849.5:c.1315_1329delCACCACCACCACCAC	5.37:g.1038447_1038461delCACCACCACCACCAC	ENSP00000296849:p.His439_His443del		Q96EK8|Q9BSN0	In_Frame_Del	DEL	ENST00000296849.5	37	CCDS3859.1																																																																																				0.688	NKD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206720.2	NM_033120		-	1038461	CACCACCACCACCAC	-	1038447	7	5	742	1	0	1	0	1	0	0	0	0	10444	710	25	0	1353	0	NKD2	5	1038447	In_Frame_Del	DEL	CACCACCACCACCAC	TCGA-KN-8436-01A-11D-2310-10		1038447	179876813	38	43349											
SLC6A19	340024	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	5	1214087	1214087	+	Missense_Mutation	SNP	C	C	T	rs148139045		TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr5:1214087C>T	ENST00000304460.10	+	6	850	c.794C>T	c.(793-795)cCg>cTg	p.P265L		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	265					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)			CTGGCCCAGCCGGACACCTGG	0.657													C|||	1	0.000199681	0.0	0.0	5008	,	,		17246	0.0		0.001	False		,,,				2504	0.0															0								C	LEU/PRO	0,4406		0,0,2203	75	78	77		794	5	0.9	5	dbSNP_134	77	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC6A19	NM_001003841.2	98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	265/635	1214087	1,13005	2203	4300	6503	SO:0001583	missense	340024			AK096054	CCDS34130.1	5p15	2013-07-19			ENSG00000174358	ENSG00000174358		"Solute carriers"	27960	protein-coding gene	gene with protein product	"Hartnup disease"	608893					Standard	NM_001003841		Approved		uc003jbw.4	Q695T7	OTTHUMG00000161636	ENST00000304460.10:c.794C>T	5.37:g.1214087C>T	ENSP00000305302:p.Pro265Leu		A8K446	Missense_Mutation	SNP	ENST00000304460.10	37	CCDS34130.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	19.61	3.860605	0.71834	0.0	1.16E-4	ENSG00000174358	ENST00000304460	T	0.77358	-1.09	4.96	4.96	0.65561	.	0.099721	0.64402	D	0.000001	D	0.83538	0.5276	M	0.74881	2.28	0.80722	D	1	D	0.56968	0.978	P	0.51453	0.67	D	0.86435	0.1763	10	0.72032	D	0.01	.	17.1671	0.86819	0.0:1.0:0.0:0.0	.	265	Q695T7	S6A19_HUMAN	L	265	ENSP00000305302:P265L	ENSP00000305302:P265L	P	+	2	0	SLC6A19	1267087	0.939000	0.31865	0.923000	0.36655	0.629000	0.37895	1.987000	0.40687	2.296000	0.77279	0.491000	0.48974	CCG		0.657	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365557.1	XM_291120		T	1214087	C	T	1214087	3	4	742	1	0	0	0	0	1	0	0	0	14688	652	23	1	816	1	SLC6A19	5	1214087	Missense_Mutation	SNP	C	TCGA-KN-8436-01A-11D-2310-10	175640	1214087	179701173	39	43350											
SLC1A3	6507	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	5	36680556	36680556	+	Missense_Mutation	SNP	G	G	A	rs115702388	byFrequency	TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr5:36680556G>A	ENST00000265113.4	+	8	1630	c.1154G>A	c.(1153-1155)cGc>cAc	p.R385H	CTD-2353F22.1_ENST00000510740.1_RNA|SLC1A3_ENST00000381918.3_Missense_Mutation_p.R385H	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	385					auditory behavior (GO:0031223)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cranial nerve development (GO:0021545)|D-aspartate import (GO:0070779)|gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate biosynthetic process (GO:0006537)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter uptake (GO:0001504)|positive regulation of synaptic transmission (GO:0050806)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cell surface (GO:0009986)|fibril (GO:0043205)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|high-affinity glutamate transmembrane transporter activity (GO:0005314)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GTGGACAAGCGCGTCACCAGA	0.522													G|||	5	0.000998403	0.0038	0.0	5008	,	,		20116	0.0		0.0	False		,,,				2504	0.0															0								G	HIS/ARG,HIS/ARG	11,4395	17.9+/-39.9	0,11,2192	108	91	97		1154,1154	5.8	0.9	5	dbSNP_132	97	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	SLC1A3	NM_001166695.1,NM_004172.4	29,29	0,12,6491	AA,AG,GG		0.0116,0.2497,0.0923	probably-damaging,probably-damaging	385/498,385/543	36680556	12,12994	2203	4300	6503	SO:0001583	missense	6507				CCDS3919.1, CCDS54844.1	5p13	2013-05-22			ENSG00000079215	ENSG00000079215		"Solute carriers"	10941	protein-coding gene	gene with protein product	"glutamate transporter variant EAAT1ex9skip"	600111				7521911, 7698014	Standard	NM_004172		Approved	EAAT1, GLAST, EA6	uc003jkj.4	P43003	OTTHUMG00000090793	ENST00000265113.4:c.1154G>A	5.37:g.36680556G>A	ENSP00000265113:p.Arg385His		B2R5T3|Q4JCQ8	Missense_Mutation	SNP	ENST00000265113.4	37	CCDS3919.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	32	5.152219	0.94645	0.002497	1.16E-4	ENSG00000079215	ENST00000265113;ENST00000427100;ENST00000381918	T;T	0.59772	0.24;0.24	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.77538	0.4145	M	0.75884	2.315	0.58432	D	0.999999	P;D	0.71674	0.903;0.998	B;D	0.80764	0.33;0.994	T	0.77485	-0.2570	10	0.56958	D	0.05	-10.6026	20.0609	0.97674	0.0:0.0:1.0:0.0	.	385;385	Q4JCQ8;P43003	.;EAA1_HUMAN	H	385;333;385	ENSP00000265113:R385H;ENSP00000371343:R385H	ENSP00000265113:R385H	R	+	2	0	SLC1A3	36716313	1.000000	0.71417	0.868000	0.34077	0.657000	0.38888	8.054000	0.89451	2.755000	0.94549	0.655000	0.94253	CGC		0.522	SLC1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207579.2	NM_004172		A	36680556	G	A	36680556	3	1	742	1	0	0	0	0	1	0	0	0	14439	1087	38	1	1197	1	SLC1A3	5	36680556	Missense_Mutation	SNP	G	TCGA-KN-8436-01A-11D-2310-10	35466469	36680556	144234704	40	43351											
GCNT4	51301	mdanderson.org	37	5	74325354	74325354	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr5:74325354T>C	ENST00000322348.4	-	1	1370	c.509A>G	c.(508-510)gAt>gGt	p.D170G		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	170					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|homeostasis of number of cells (GO:0048872)|inter-male aggressive behavior (GO:0002121)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|thyroid hormone metabolic process (GO:0042403)|tissue morphogenesis (GO:0048729)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	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)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		TTTGAAGGTATCAGGTGCCTT	0.388																																																0													150	147	148					5																	74325354		2203	4300	6503	SO:0001583	missense	51301			AF132035	CCDS4026.1	5q12	2013-02-25	2010-03-16		ENSG00000176928	ENSG00000176928	2.4.1.102	"Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	17973	protein-coding gene	gene with protein product	"core 2 beta-1,6-N-acetylglucosaminyltransferase 3", "beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4"		"glucosaminyl (N-acetyl) transferase 4, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"			10753916	Standard	NM_016591		Approved	C2GNT3	uc003kdn.3	Q9P109	OTTHUMG00000131272	ENST00000322348.4:c.509A>G	5.37:g.74325354T>C	ENSP00000317027:p.Asp170Gly			Missense_Mutation	SNP	ENST00000322348.4	37	CCDS4026.1	.	.	.	.	.	.	.	.	.	.	.	8.629	0.893283	0.17613	.	.	ENSG00000176928	ENST00000322348	T	0.10860	2.83	6.17	2.19	0.27852	.	1.026770	0.07657	N	0.932996	T	0.10551	0.0258	L	0.55990	1.75	0.09310	N	1	B	0.26602	0.154	B	0.27380	0.079	T	0.42189	-0.9466	10	0.25751	T	0.34	-3.0761	2.6203	0.04914	0.2341:0.0635:0.2431:0.4593	.	170	Q9P109	GCNT4_HUMAN	G	170	ENSP00000317027:D170G	ENSP00000317027:D170G	D	-	2	0	GCNT4	74361110	0.000000	0.05858	0.001000	0.08648	0.750000	0.42670	0.726000	0.25984	0.511000	0.28236	0.533000	0.62120	GAT		0.388	GCNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254040.1	NM_016591		C	74325354	T	C	74325354	3	2	742	1	0	0	0	0	1	0	0	0	6305	1435	50	3	856	3	GCNT4	5	74325354	Missense_Mutation	SNP	T	TCGA-KN-8436-01A-11D-2310-10	37644798	74325354	106589906	41	43352											
RAPGEF6	51735	bcgsc.ca	37	5	130788798	130788798	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr5:130788798A>G	ENST00000509018.1	-	21	3354	c.3149T>C	c.(3148-3150)gTt>gCt	p.V1050A	CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.V1100A|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.V1055A|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.V1050A|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.V1050A|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.V765A|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.V1050A	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1050	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				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)		CATTCGAACAACTTGGCGGAT	0.358																																					Melanoma(168;435 1955 13113 13877 23213)											0													107	107	107					5																	130788798		2203	4300	6503	SO:0001583	missense	51735			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.3149T>C	5.37:g.130788798A>G	ENSP00000421684:p.Val1050Ala		A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	37	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.494322	0.85069	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000512052;ENST00000308008;ENST00000514667	T;T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48;1.48	4.94	4.94	0.65067	Guanine-nucleotide dissociation stimulator CDC25 (3);Ras guanine nucleotide exchange factor, domain (1);	0.118660	0.56097	D	0.000032	T	0.42359	0.1199	M	0.62088	1.915	0.80722	D	1	P;B;P;B;P;P;B	0.48089	0.788;0.03;0.855;0.357;0.905;0.865;0.392	B;B;P;B;B;P;B	0.49561	0.289;0.038;0.615;0.142;0.405;0.61;0.201	T	0.44742	-0.9308	10	0.87932	D	0	.	14.8925	0.70620	1.0:0.0:0.0:0.0	.	1050;1050;1050;765;1100;1055;1050	A3KN82;B7ZML2;Q8TEU7-2;D6RE77;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;.;.;RPGF6_HUMAN	A	1050;1055;1050;1050;1055;765;1050;1100	ENSP00000421684:V1050A;ENSP00000309298:V1055A;ENSP00000426081:V1050A;ENSP00000296859:V1050A;ENSP00000426910:V765A;ENSP00000311419:V1050A;ENSP00000426948:V1100A	ENSP00000426948:V1100A	V	-	2	0	RAPGEF6;FNIP1	130816697	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.335000	0.96500	1.991000	0.58162	0.383000	0.25322	GTT		0.358	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		G	130788798	A	G	130788798	3	3	742	1	0	0	0	0	1	0	0	0	13054	43	2	3	2151	3	RAPGEF6	5	130788798	Missense_Mutation	SNP	A	TCGA-KN-8436-01A-11D-2310-10	56463444	130788798	50126462	42	43353											
FNIP1	96459	broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	131008278	131008278	+	Missense_Mutation	SNP	T	T	A			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr5:131008278T>A	ENST00000510461.1	-	14	1954	c.1859A>T	c.(1858-1860)cAa>cTa	p.Q620L	CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000307968.7_Missense_Mutation_p.Q592L|FNIP1_ENST00000307954.8_Missense_Mutation_p.Q575L	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	620					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)		CTCTACATTTTGCCCAAGGAG	0.373																																																0													128	132	130					5																	131008278		2203	4300	6503	SO:0001583	missense	96459			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.1859A>T	5.37:g.131008278T>A	ENSP00000421985:p.Gln620Leu		D6RJH5|Q86T47|Q9BUT0	Missense_Mutation	SNP	ENST00000510461.1	37	CCDS34227.1	.	.	.	.	.	.	.	.	.	.	T	12.59	1.983243	0.35036	.	.	ENSG00000217128	ENST00000307968;ENST00000307954;ENST00000544351;ENST00000510461	T;T;T	0.14144	2.53;2.53;2.53	5.97	4.75	0.60458	.	.	.	.	.	T	0.11665	0.0284	L	0.34521	1.04	0.80722	D	1	B;P;B	0.38504	0.277;0.634;0.022	B;B;B	0.35971	0.206;0.215;0.014	T	0.06716	-1.0811	9	0.49607	T	0.09	-1.3887	12.9473	0.58379	0.0:0.0:0.1349:0.8651	.	620;592;620	A8K8V8;Q8TF40-3;Q8TF40	.;.;FNIP1_HUMAN	L	592;575;372;620	ENSP00000309266:Q592L;ENSP00000310453:Q575L;ENSP00000421985:Q620L	ENSP00000310453:Q575L	Q	-	2	0	FNIP1	131036177	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	2.247000	0.43151	2.288000	0.76882	0.533000	0.62120	CAA		0.373	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370077.1	NM_133372		A	131008278	T	A	131008278	3	1	742	1	0	0	0	0	1	0	0	0	5977	1812	63	5	1661	5	FNIP1	5	131008278	Missense_Mutation	SNP	T	TCGA-KN-8436-01A-11D-2310-10	219480	131008278	49906982	43	43354											
RNF145	153830	bcgsc.ca	37	5	158630640	158630640	+	5'UTR	SNP	T	T	C	rs368977591		TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr5:158630640T>C	ENST00000424310.2	-	0	345				RNF145_ENST00000521606.2_Missense_Mutation_p.K13E|RNF145_ENST00000518802.1_Missense_Mutation_p.K26E|RNF145_ENST00000520638.1_Missense_Mutation_p.K10E|RNF145_ENST00000519865.1_5'UTR|RNF145_ENST00000274542.2_Missense_Mutation_p.K24E	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145							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)			tttttttttttcttttttttt	0.368																																																0													33	36	35					5																	158630640		2203	4300	6503	SO:0001623	5_prime_UTR_variant	153830			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.-15A>G	5.37:g.158630640T>C			B7Z903|B7Z949|E7EVI7|Q8IVP7	Missense_Mutation	SNP	ENST00000424310.2	37	CCDS56390.1	.	.	.	.	.	.	.	.	.	.	T	0.006	-2.071233	0.00379	.	.	ENSG00000145860	ENST00000274542;ENST00000521606;ENST00000413445;ENST00000518802;ENST00000520638	T;T;T;T;T	0.77489	-1.09;-1.07;-1.07;-1.1;-1.06	1.66	0.33	0.15929	.	4.233800	0.00610	N	0.000418	T	0.52581	0.1743	N	0.08118	0	0.09310	N	0.999996	P;P;P;P;P	0.42584	0.784;0.544;0.544;0.544;0.673	B;B;B;B;B	0.28638	0.092;0.032;0.032;0.032;0.071	T	0.53711	-0.8400	10	0.41790	T	0.15	18.6048	3.7362	0.08511	0.0:0.2254:0.0:0.7746	.	12;13;10;26;24	E7EW26;B7Z949;B7Z903;E7EVI7;Q96MT1-2	.;.;.;.;.	E	24;12;13;26;10	ENSP00000274542:K24E;ENSP00000430753:K12E;ENSP00000445115:K13E;ENSP00000430955:K26E;ENSP00000429071:K10E	ENSP00000274542:K24E	K	-	1	0	RNF145	158563218	0.030000	0.19436	0.002000	0.10522	0.002000	0.02628	0.517000	0.22832	-0.074000	0.12820	-1.322000	0.01289	AAA		0.368	RNF145-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374048.1	NM_144726		C	158630640	T	C	158630640	1	2	742	0	1	0	0	0	0	0	0	0	13453	1792	62	3		3	RNF145	5	158630640	5'UTR	SNP	T	TCGA-KN-8436-01A-11D-2310-10	27622362	158630640	22284620	44	43355											
HLA-B	3106	mdanderson.org	37	6	31323116	31323116	+	Silent	SNP	C	C	T	rs1131446	byFrequency	TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr6:31323116C>T	ENST00000412585.2	-	4	901	c.873G>A	c.(871-873)ccG>ccA	p.P291P		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	291	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						TGAGGGGCTTCGGCAGCCCCT	0.577									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				C|||	485	0.096845	0.0749	0.0922	5008	,	,		21693	0.0754		0.1074	False		,,,				2504	0.1411															0													60	57	58					6																	31323116		2203	4300	6503	SO:0001819	synonymous_variant	3106	Familial Cancer Database	;Lichen Sclerosis, Familial	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4932	protein-coding gene	gene with protein product		142830	"ankylosing spondylitis"	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.873G>A	6.37:g.31323116C>T			Q29764	Silent	SNP	ENST00000412585.2	37	CCDS34394.1																																																																																				0.577	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514		T	31323116	C	T	31323116	2	4	742	1	0	0	0	0	0	0	0	1	7198	871	31	1		1	HLA-B	6	31323116	Silent	SNP	C	TCGA-KN-8436-01A-11D-2310-10		31323116	139791951	45	43356											
HLA-DRB5	3127	mdanderson.org	37	6	32487169	32487169	+	Silent	SNP	C	C	T	rs143127183	byFrequency	TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr6:32487169C>T	ENST00000374975.3	-	3	692	c.630G>A	c.(628-630)acG>acA	p.T210T		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						TGAGAGGGCTCGTCACGCTTG	0.493													C|||	233	0.0465256	0.059	0.0389	5008	,	,		12789	0.0685		0.0368	False		,,,				2504	0.0225															0													73	83	80					6																	32487169		1886	3734	5620	SO:0001819	synonymous_variant	3127				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.630G>A	6.37:g.32487169C>T				Silent	SNP	ENST00000374975.3	37	CCDS4751.1																																																																																				0.493	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076022.2	NM_002125		T	32487169	C	T	32487169	2	4	742	1	0	0	0	0	0	0	0	1	7211	871	31	1		1	HLA-DRB5	6	32487169	Silent	SNP	C	TCGA-KN-8436-01A-11D-2310-10	1164053	32487169	138627898	46	43357			1	104		5	4	2685	N	T_C_A	2.309802e-07
HLA-DRB5	3127	mdanderson.org	37	6	32487214	32487214	+	Silent	SNP	T	T	C	rs557324709|rs144016913|rs41544512	byFrequency	TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr6:32487214T>C	ENST00000374975.3	-	3	647	c.585A>G	c.(583-585)cgA>cgG	p.R195R		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						CCTCTCCACTTCGAGGAACTG	0.532													t|||	3842	0.767173	0.795	0.8847	5008	,	,		12516	0.7242		0.8171	False		,,,				2504	0.6391															0								C		2567,1093		1247,73,510	57	63	61		585	1.8	0.2	6	dbSNP_134	61	5042,2194		2446,150,1022	no	coding-synonymous	HLA-DRB5	NM_002125.3		3693,223,1532	CC,CT,TT		30.3206,29.8634,30.167		195/267	32487214	7609,3287	1830	3618	5448	SO:0001819	synonymous_variant	3127				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.585A>G	6.37:g.32487214T>C				Silent	SNP	ENST00000374975.3	37	CCDS4751.1																																																																																				0.532	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076022.2	NM_002125		C	32487214	T	C	32487214	2	2	742	1	0	0	0	0	0	0	0	1	7211	1770	62	3		3	HLA-DRB5	6	32487214	Silent	SNP	T	TCGA-KN-8436-01A-11D-2310-10	45	32487214	138627853	47	43358			1	104		5	4	2685	N	T_C_A	2.309802e-07
HLA-DRB5	3127	mdanderson.org	37	6	32487265	32487265	+	Missense_Mutation	SNP	C	C	G	rs139485758	byFrequency	TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr6:32487265C>G	ENST00000374975.3	-	3	596	c.534G>C	c.(532-534)caG>caC	p.Q178H		NM_002125.3	NP_002116.2			major histocompatibility complex, class II, DR beta 5									p.Q178H(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						AGTCTCCATTCTGAATCAGGC	0.552													C|||	836	0.166933	0.2224	0.1326	5008	,	,		15097	0.1667		0.1531	False		,,,				2504	0.1309															1	Substitution - Missense(1)	NS(1)											61	68	65					6																	32487265		1933	3889	5822	SO:0001583	missense	3127				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.534G>C	6.37:g.32487265C>G	ENSP00000364114:p.Gln178His			Missense_Mutation	SNP	ENST00000374975.3	37	CCDS4751.1	.	.	.	.	.	.	.	.	.	.	.	2.451	-0.326294	0.05350	.	.	ENSG00000198502	ENST00000374975	T	0.14391	2.51	4.6	-9.19	0.00685	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	1.115120	0.06656	N	0.763651	T	0.02193	0.0068	L	0.35487	1.065	0.80722	P	0.0	B;B	0.19445	0.036;0.003	B;B	0.33690	0.168;0.014	T	0.35871	-0.9771	9	0.35671	T	0.21	.	1.7649	0.03000	0.2235:0.402:0.1926:0.1818	.	105;178	Q29973;Q30154	.;DRB5_HUMAN	H	178	ENSP00000364114:Q178H	ENSP00000364114:Q178H	Q	-	3	2	HLA-DRB5	32595243	0.000000	0.05858	0.000000	0.03702	0.495000	0.33615	-4.437000	0.00234	-3.808000	0.00104	-0.273000	0.10243	CAG		0.552	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076022.2	NM_002125		G	32487265	C	G	32487265	3	3	742	1	0	0	0	0	1	0	0	0	7211	912	32	4	282	4	HLA-DRB5	6	32487265	Missense_Mutation	SNP	C	TCGA-KN-8436-01A-11D-2310-10	51	32487265	138627802	48	43359	420	2	1	104		5	4	2685	N	T_C_A	2.309802e-07
HLA-DRB5	3127	mdanderson.org	37	6	32487268	32487268	+	Silent	SNP	A	A	G	rs75732937	byFrequency	TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr6:32487268A>G	ENST00000374975.3	-	3	593	c.531T>C	c.(529-531)atT>atC	p.I177I		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						CTCCATTCTGAATCAGGCCTG	0.547													a|||	1034	0.20647	0.2784	0.1513	5008	,	,		14313	0.2331		0.162	False		,,,				2504	0.1667															0								G		2642,1214		1289,64,575	61	67	65		531	1.6	0.4	6	dbSNP_131	65	5362,2452		2595,172,1140	no	coding-synonymous	HLA-DRB5	NM_002125.3		3884,236,1715	GG,GA,AA		31.3796,31.4834,31.4139		177/267	32487268	8004,3666	1928	3907	5835	SO:0001819	synonymous_variant	3127				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.531T>C	6.37:g.32487268A>G				Silent	SNP	ENST00000374975.3	37	CCDS4751.1																																																																																				0.547	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076022.2	NM_002125		G	32487268	A	G	32487268	2	3	742	1	0	0	0	0	0	0	0	1	7211	242	9	3		3	HLA-DRB5	6	32487268	Silent	SNP	A	TCGA-KN-8436-01A-11D-2310-10	3	32487268	138627799	49	43360	420	2	1	104		5	4	2685	N	T_C_A	2.309802e-07
HLA-DRB5	3127	bcgsc.ca	37	6	32489853	32489853	+	Missense_Mutation	SNP	A	A	C	rs78961241	byFrequency	TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr6:32489853A>C	ENST00000374975.3	-	2	261	c.199T>G	c.(199-201)Ttg>Gtg	p.L67V		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						TCGAAGCGCAAGTCCTCCTCT	0.577																																																0								C	VAL/LEU	2586,1204		1234,118,543	36	33	34		199	1.9	0	6	dbSNP_131	34	4829,2467		2224,381,1043	yes	missense	HLA-DRB5	NM_002125.3	32	3458,499,1586	CC,CA,AA		33.813,31.7678,33.1138	benign	67/267	32489853	7415,3671	1895	3648	5543	SO:0001583	missense	3127				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.199T>G	6.37:g.32489853A>C	ENSP00000364114:p.Leu67Val			Missense_Mutation	SNP	ENST00000374975.3	37	CCDS4751.1	1631	0.7467948717948718	319	0.6483739837398373	310	0.856353591160221	456	0.7972027972027972	546	0.7203166226912929	.	0.616	-0.823178	0.02755	0.682322	0.66187	ENSG00000198502	ENST00000374975	T	0.00291	8.27	4.81	1.93	0.25924	MHC class II, alpha/beta chain, N-terminal (1);MHC class II, beta chain, N-terminal (2);MHC classes I/II-like antigen recognition protein (1);	1.770390	0.03508	N	0.219068	T	0.00012	0.0000	N	0.01096	-1.015	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.10520	-1.0626	9	0.02654	T	1	.	4.8505	0.13535	0.1413:0.505:0.2738:0.08	rs1059580;rs1064668;rs2308797;rs3200314;rs3205648	67	Q30154	DRB5_HUMAN	V	67	ENSP00000364114:L67V	ENSP00000364114:L67V	L	-	1	2	HLA-DRB5	32597831	0.000000	0.05858	0.000000	0.03702	0.077000	0.17291	-1.699000	0.01906	-0.141000	0.11374	-0.464000	0.05259	TTG		0.577	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076022.2	NM_002125		C	32489853	A	C	32489853	3	2	742	1	0	0	0	0	1	0	0	0	7211	69	3	5	621	5	HLA-DRB5	6	32489853	Missense_Mutation	SNP	A	TCGA-KN-8436-01A-11D-2310-10	2585	32489853	138625214	50	43361			1	104		5	4	2685	N	T_C_A	2.309802e-07
HLA-DRB1	3123	bcgsc.ca	37	6	32551999	32551999	+	Missense_Mutation	SNP	T	T	C	rs17885129	byFrequency	TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr6:32551999T>C	ENST00000360004.5	-	2	362	c.257A>G	c.(256-258)gAc>gGc	p.D86G		NM_002124.3	NP_002115.2	Q30167	2B1A_HUMAN	major histocompatibility complex, class II, DR beta 1	86	Beta-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						GTACTCAGCGTCAGGCCGCCC	0.627										Multiple Myeloma(14;0.17)																																						0													38	41	40					6																	32551999		2192	4284	6476	SO:0001583	missense	3123			AJ297583	CCDS47409.1	6p21.3	2013-01-11			ENSG00000196126	ENSG00000196126		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4948	protein-coding gene	gene with protein product		142857		HLA-DR1B			Standard	NM_001243965		Approved		uc011eri.2	P01911	OTTHUMG00000031196	ENST00000360004.5:c.257A>G	6.37:g.32551999T>C	ENSP00000353099:p.Asp86Gly		P01914|Q9MYF5	Missense_Mutation	SNP	ENST00000360004.5	37	CCDS47409.1	.	.	.	.	.	.	.	.	.	.	.	11.82	1.752417	0.31046	.	.	ENSG00000196126	ENST00000360004	T	0.00269	8.37	3.52	-7.04	0.01578	MHC class II, alpha/beta chain, N-terminal (1);MHC class II, beta chain, N-terminal (3);MHC classes I/II-like antigen recognition protein (1);	11.458300	0.00979	N	0.003354	T	0.00109	0.0003	M	0.93763	3.455	0.09310	N	1	B	0.19935	0.04	B	0.31245	0.126	T	0.41106	-0.9527	10	0.72032	D	0.01	.	2.7835	0.05367	0.4374:0.0858:0.3314:0.1454	rs17885129;rs28724093;rs34095932	86	P01911	2B1F_HUMAN	G	86	ENSP00000353099:D86G	ENSP00000353099:D86G	D	-	2	0	HLA-DRB1	32659977	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-4.520000	0.00221	-1.648000	0.01510	-0.554000	0.04202	GAC		0.627	HLA-DRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076393.3	NM_002124		C	32551999	T	C	32551999	3	2	742	1	0	0	0	0	1	0	0	0	7210	1667	58	3	563	3	HLA-DRB1	6	32551999	Missense_Mutation	SNP	T	TCGA-KN-8436-01A-11D-2310-10	62146	32551999	138563068	51	43362											
HLA-DRB1	3123	mdanderson.org	37	6	32552123	32552123	+	Missense_Mutation	SNP	G	G	A	rs17879702	byFrequency	TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr6:32552123G>A	ENST00000360004.5	-	2	238	c.133C>T	c.(133-135)Cat>Tat	p.H45Y		NM_002124.3	NP_002115.2	Q30167	2B1A_HUMAN	major histocompatibility complex, class II, DR beta 1	45	Beta-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						TTGAAGAAATGACACTCCCTC	0.607										Multiple Myeloma(14;0.17)			G|||	483	0.0964457	0.0877	0.0893	5008	,	,		6110	0.1518		0.0666	False		,,,				2504	0.0869															0								G	TYR/HIS	269,3975		10,249,1863	17	17	17		133	0.5	0.9	6	dbSNP_124	17	223,8099		6,211,3944	yes	missense	HLA-DRB1	NM_002124.3	83	16,460,5807	AA,AG,GG		2.6796,6.3384,3.9153		45/267	32552123	492,12074	2122	4161	6283	SO:0001583	missense	3123			AJ297583	CCDS47409.1	6p21.3	2013-01-11			ENSG00000196126	ENSG00000196126		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4948	protein-coding gene	gene with protein product		142857		HLA-DR1B			Standard	NM_001243965		Approved		uc011eri.2	P01911	OTTHUMG00000031196	ENST00000360004.5:c.133C>T	6.37:g.32552123G>A	ENSP00000353099:p.His45Tyr		P01914|Q9MYF5	Missense_Mutation	SNP	ENST00000360004.5	37	CCDS47409.1	229	0.10485347985347986	47	0.09552845528455285	36	0.09944751381215469	90	0.15734265734265734	56	0.07387862796833773	.	10.85	1.465736	0.26335	0.063384	0.026796	ENSG00000196126	ENST00000360004	T	0.00305	8.18	3.52	0.466	0.16716	MHC class II, alpha/beta chain, N-terminal (1);MHC class II, beta chain, N-terminal (2);MHC classes I/II-like antigen recognition protein (1);	0.903373	0.09722	N	0.764256	T	0.00178	0.0005	L	0.45698	1.435	0.38322	P	0.05645	D	0.89917	1.0	D	0.91635	0.999	T	0.48198	-0.9056	9	0.56958	D	0.05	.	3.2704	0.06879	0.3419:0.2092:0.4489:0.0	rs17879702	45	P01911	2B1F_HUMAN	Y	45	ENSP00000353099:H45Y	ENSP00000353099:H45Y	H	-	1	0	HLA-DRB1	32660101	0.055000	0.20627	0.860000	0.33809	0.020000	0.10135	-0.022000	0.12480	0.246000	0.21394	0.453000	0.30009	CAT		0.607	HLA-DRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076393.3	NM_002124		A	32552123	G	A	32552123	3	1	742	1	0	0	0	0	1	0	0	0	7210	1290	45	2	687	2	HLA-DRB1	6	32552123	Missense_Mutation	SNP	G	TCGA-KN-8436-01A-11D-2310-10	124	32552123	138562944	52	43363											
HLA-DQA1	3117	bcgsc.ca	37	6	32609299	32609299	+	Missense_Mutation	SNP	A	A	C	rs199556640|rs371894400|rs1064944	byFrequency	TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr6:32609299A>C	ENST00000343139.5	+	2	397	c.295A>C	c.(295-297)Atg>Ctg	p.M99L	HLA-DQA1_ENST00000374949.2_Missense_Mutation_p.M99L|HLA-DQA1_ENST00000395363.1_Missense_Mutation_p.M99L	NM_002122.3	NP_002113.2	P01909	DQA1_HUMAN	major histocompatibility complex, class II, DQ alpha 1	98	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						CTTGAACATCATGATTAAACG	0.478																																																0								C	LEU/MET	392,3666		82,228,1719	95	82	86		295	-7.9	0	6	dbSNP_86	86	635,6861		87,461,3200	yes	missense	HLA-DQA1	NM_002122.3	15	169,689,4919	CC,CA,AA		8.4712,9.6599,8.8887	benign	99/256	32609299	1027,10527	2029	3748	5777	SO:0001583	missense	3117				CCDS4752.1	6p21.3	2013-01-11			ENSG00000196735	ENSG00000196735		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4942	protein-coding gene	gene with protein product		146880		HLA-DQA			Standard	NM_002122		Approved	CELIAC1	uc003obr.3	P01909	OTTHUMG00000031106	ENST00000343139.5:c.295A>C	6.37:g.32609299A>C	ENSP00000339398:p.Met99Leu		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	CCDS4752.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.630061	0.00115	0.096599	0.084712	ENSG00000196735	ENST00000343139;ENST00000395364;ENST00000395363;ENST00000496318;ENST00000374949	T;T;T;T	0.00628	6.11;6.11;6.11;6.11	3.97	-7.95	0.01148	.	1.376450	0.04709	N	0.417235	T	0.00039	0.0001	N	0.01352	-0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.42292	-0.9460	10	0.02654	T	1	.	0.8881	0.01249	0.3982:0.2011:0.1237:0.2771	rs1064944;rs1064945;rs1142336;rs3188083;rs3205995;rs12722087;rs17405576;rs17415903;rs28383452	105;99	Q59F33;G4XQK2	.;.	L	99	ENSP00000339398:M99L;ENSP00000378767:M99L;ENSP00000437302:M99L;ENSP00000364087:M99L	ENSP00000339398:M99L	M	+	1	0	HLA-DQA1	32717277	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-13.284000	0.00001	-6.444000	0.00004	-0.922000	0.02736	ATG		0.478	HLA-DQA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076176.3	NM_002122		C	32609299	A	C	32609299	3	2	742	1	0	0	0	0	1	0	0	0	7206	217	8	5	301	5	HLA-DQA1	6	32609299	Missense_Mutation	SNP	A	TCGA-KN-8436-01A-11D-2310-10	57176	32609299	138505768	53	43364			2	105	119446	2	2	14	A		5.417096e-05
HLA-DQA1	3117	bcgsc.ca	37	6	32609312	32609312	+	Missense_Mutation	SNP	A	A	C	rs1129808	byFrequency	TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr6:32609312A>C	ENST00000343139.5	+	2	410	c.308A>C	c.(307-309)tAc>tCc	p.Y103S	HLA-DQA1_ENST00000374949.2_Missense_Mutation_p.Y103S|HLA-DQA1_ENST00000395363.1_Missense_Mutation_p.Y103S	NM_002122.3	NP_002113.2	P01909	DQA1_HUMAN	major histocompatibility complex, class II, DQ alpha 1	102	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						ATTAAACGCTACAACTCTACC	0.468													.|||	2180	0.435304	0.3873	0.6153	5008	,	,		11385	0.4147		0.501	False		,,,				2504	0.3262															0								C	SER/TYR	808,3428		291,226,1601	83	69	74		308	3.1	0.2	6	dbSNP_86	74	1870,6184		638,594,2795	yes	missense	HLA-DQA1	NM_002122.3	144	929,820,4396	CC,CA,AA		23.2183,19.0746,21.7901	benign	103/256	32609312	2678,9612	2118	4027	6145	SO:0001583	missense	3117				CCDS4752.1	6p21.3	2013-01-11			ENSG00000196735	ENSG00000196735		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4942	protein-coding gene	gene with protein product		146880		HLA-DQA			Standard	NM_002122		Approved	CELIAC1	uc003obr.3	P01909	OTTHUMG00000031106	ENST00000343139.5:c.308A>C	6.37:g.32609312A>C	ENSP00000339398:p.Tyr103Ser		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	CCDS4752.1	998|998	0.45695970695970695|0.45695970695970695	166|166	0.33739837398373984|0.33739837398373984	207|207	0.5718232044198895|0.5718232044198895	275|275	0.4807692307692308|0.4807692307692308	350|350	0.46174142480211083|0.46174142480211083	.|.	0.041|0.041	-1.285527|-1.285527	0.01387|0.01387	0.190746|0.190746	0.232183|0.232183	ENSG00000196735|ENSG00000196735	ENST00000486548|ENST00000343139;ENST00000395364;ENST00000395363;ENST00000496318;ENST00000374949	.|T;T;T;T	.|0.00644	.|6.01;6.01;6.01;6.01	3.97|3.97	3.11|3.11	0.35812|0.35812	.|.	.|0.418357	.|0.24189	.|N	.|0.040724	T|T	0.00073|0.00073	0.0002|0.0002	N|N	0.00092|0.00092	-2.175|-2.175	0.35002|0.35002	P|P	0.24390500000000004|0.24390500000000004	.|B;B	.|0.15141	.|0.012;0.0	.|B;B	.|0.22880	.|0.042;0.003	T|T	0.13255|0.13255	-1.0516|-1.0516	4|9	.|0.02654	.|T	.|1	.|.	12.6013|12.6013	0.56499|0.56499	0.1821:0.8179:0.0:0.0|0.1821:0.8179:0.0:0.0	rs1129808;rs1142337;rs3188091;rs3205997;rs9272711;rs12722088;rs17415910;rs36218703|rs1129808;rs1142337;rs3188091;rs3205997;rs9272711;rs12722088;rs17415910;rs36218703	.|109;103	.|Q59F33;G4XQK2	.|.;.	P|S	76|103	.|ENSP00000339398:Y103S;ENSP00000378767:Y103S;ENSP00000437302:Y103S;ENSP00000364087:Y103S	.|ENSP00000339398:Y103S	T|Y	+|+	1|2	0|0	HLA-DQA1|HLA-DQA1	32717290|32717290	0.051000|0.051000	0.20477|0.20477	0.243000|0.243000	0.24186|0.24186	0.024000|0.024000	0.10985|0.10985	-0.092000|-0.092000	0.11129|0.11129	0.478000|0.478000	0.27488|0.27488	-0.922000|-0.922000	0.02736|0.02736	ACA|TAC		0.468	HLA-DQA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076176.3	NM_002122		C	32609312	A	C	32609312	3	2	742	1	0	0	0	0	1	0	0	0	7206	391	14	5	314	5	HLA-DQA1	6	32609312	Missense_Mutation	SNP	A	TCGA-KN-8436-01A-11D-2310-10	13	32609312	138505755	54	43365			2	105	119446	2	2	14	A		5.417096e-05
PEX6	5190	ucsc.edu	37	6	42933101	42933101	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr6:42933101A>G	ENST00000304611.8	-	14	2546	c.2477T>C	c.(2476-2478)gTg>gCg	p.V826A	PEX6_ENST00000244546.4_3'UTR	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	826					ATP catabolic process (GO:0006200)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix, translocation (GO:0016561)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|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;0.0562)			GAGCTGAGACACCACCCTGGA	0.577																																																0													94	80	85					6																	42933101		2203	4300	6503	SO:0001583	missense	5190			U56602	CCDS4877.1	6p22-p11	2010-04-21			ENSG00000124587	ENSG00000124587		"ATPases / AAA-type"	8859	protein-coding gene	gene with protein product		601498				8670792	Standard	NM_000287		Approved	PXAAA1, PAF-2	uc003otf.3	Q13608	OTTHUMG00000014713	ENST00000304611.8:c.2477T>C	6.37:g.42933101A>G	ENSP00000303511:p.Val826Ala		Q5T8W1|Q8WYQ0|Q8WYQ1|Q8WYQ2|Q99476	Missense_Mutation	SNP	ENST00000304611.8	37	CCDS4877.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.710784	0.89112	.	.	ENSG00000124587	ENST00000304611	D	0.93763	-3.28	5.84	5.84	0.93424	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.95351	0.8491	M	0.64997	1.995	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.95948	0.8952	10	0.72032	D	0.01	-20.2207	15.9056	0.79427	1.0:0.0:0.0:0.0	.	826	Q13608	PEX6_HUMAN	A	826	ENSP00000303511:V826A	ENSP00000303511:V826A	V	-	2	0	PEX6	43041079	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	9.090000	0.94144	2.233000	0.73108	0.454000	0.30748	GTG		0.577	PEX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040569.1	NM_000287		G	42933101	A	G	42933101	3	3	742	1	0	0	0	0	1	0	0	0	11752	159	6	3	481	3	PEX6	6	42933101	Missense_Mutation	SNP	A	TCGA-KN-8436-01A-11D-2310-10	10323789	42933101	128181966	55	43366											
CAPN11	11131	ucsc.edu	37	6	44140054	44140054	+	Missense_Mutation	SNP	T	T	C	rs397947482|rs57288791|rs111320370	byFrequency	TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr6:44140054T>C	ENST00000398776.1	+	5	463	c.425T>C	c.(424-426)cTg>cCg	p.L142P	CAPN11_ENST00000542245.1_Missense_Mutation_p.L142P	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	142	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)			TGCTGGCTGCTGGCTGCCATC	0.582											OREG0017466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													12	15	14					6																	44140054		1959	4096	6055	SO:0001583	missense	11131			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.425T>C	6.37:g.44140054T>C	ENSP00000381758:p.Leu142Pro	921	B2RA64|Q5T3G1|Q8N4R5	Missense_Mutation	SNP	ENST00000398776.1	37	CCDS47436.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.354124	0.82243	.	.	ENSG00000137225	ENST00000398776;ENST00000542245;ENST00000532171	D;D;D	0.93019	-3.15;-3.15;-3.15	4.05	4.05	0.47172	Peptidase C2, calpain, catalytic domain (3);	0.000000	0.38605	N	0.001632	D	0.98353	0.9453	H	0.99887	4.895	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98507	1.0617	10	0.87932	D	0	.	13.2146	0.59851	0.0:0.0:0.0:1.0	.	142	Q9UMQ6	CAN11_HUMAN	P	142;142;172	ENSP00000381758:L142P;ENSP00000441078:L142P;ENSP00000432420:L172P	ENSP00000381758:L142P	L	+	2	0	CAPN11	44248032	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.650000	0.83521	2.062000	0.61559	0.533000	0.62120	CTG		0.582	CAPN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040714.3			C	44140054	T	C	44140054	3	2	742	1	0	0	0	0	1	0	0	0	2626	1580	55	3	443	3	CAPN11	6	44140054	Missense_Mutation	SNP	T	TCGA-KN-8436-01A-11D-2310-10	1206953	44140054	126975013	56	43367											
CRISP1	167	mdanderson.org	37	6	49825056	49825056	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr6:49825056A>G	ENST00000335847.4	-	2	159	c.58T>C	c.(58-60)Tcc>Ccc	p.S20P	CRISP1_ENST00000505118.1_Missense_Mutation_p.S20P|CRISP1_ENST00000507853.1_Missense_Mutation_p.S20P|CRISP1_ENST00000355791.2_Missense_Mutation_p.S20P|CRISP1_ENST00000329411.5_Missense_Mutation_p.S20P|CRISP1_ENST00000536021.1_Missense_Mutation_p.S20P	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	20					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)					ACTTTCATGGACAACATAGGC	0.333																																																0													90	82	85					6																	49825056		2203	4300	6503	SO:0001583	missense	167			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.58T>C	6.37:g.49825056A>G	ENSP00000338276:p.Ser20Pro		B5BU98|O00698|Q13248|Q14082|Q96SF6	Missense_Mutation	SNP	ENST00000335847.4	37	CCDS4931.1	.	.	.	.	.	.	.	.	.	.	A	1.910	-0.450893	0.04572	.	.	ENSG00000124812	ENST00000507853;ENST00000335847;ENST00000355791;ENST00000329411;ENST00000505118;ENST00000536021	T;T;T;T;T;T	0.09255	3.0;3.0;3.0;3.0;3.0;3.0	4.22	-1.85	0.07784	CAP domain (2);	1.552690	0.03792	N	0.263113	T	0.01254	0.0041	N	0.04787	-0.16	0.09310	N	1	B;B	0.22851	0.076;0.046	B;B	0.23716	0.048;0.021	T	0.44467	-0.9326	9	.	.	.	.	4.321	0.11016	0.1521:0.163:0.0:0.6849	.	20;20	P54107-2;P54107	.;CRIS1_HUMAN	P	20	ENSP00000425020:S20P;ENSP00000338276:S20P;ENSP00000348044:S20P;ENSP00000331317:S20P;ENSP00000427589:S20P;ENSP00000441798:S20P	.	S	-	1	0	CRISP1	49933015	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.139000	0.10358	-0.291000	0.09012	-0.168000	0.13345	TCC		0.333	CRISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040875.2	NM_001131		G	49825056	A	G	49825056	3	3	742	1	0	0	0	0	1	0	0	0	3881	275	10	3	719	3	CRISP1	6	49825056	Missense_Mutation	SNP	A	TCGA-KN-8436-01A-11D-2310-10	5685002	49825056	121290011	57	43368											
TAX1BP1	8887	mdanderson.org	37	7	27839640	27839640	+	Silent	SNP	A	A	G			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr7:27839640A>G	ENST00000396319.2	+	13	1783	c.1695A>G	c.(1693-1695)aaA>aaG	p.K565K	TAX1BP1_ENST00000543117.1_Silent_p.K565K|TAX1BP1_ENST00000433216.2_Silent_p.K408K|TAX1BP1_ENST00000409980.1_Silent_p.K565K|TAX1BP1_ENST00000265393.6_Silent_p.K565K	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	565					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)			TGGAGCTGAAATGGAAAGAAC	0.289																																																0													92	88	89					7																	27839640		2203	4297	6500	SO:0001819	synonymous_variant	8887			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.1695A>G	7.37:g.27839640A>G			B4DKU7|E7ENV2|O60398|O95770|Q13311|Q9BQG5|Q9UI88	Silent	SNP	ENST00000396319.2	37	CCDS5415.1																																																																																				0.289	TAX1BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214142.1	NM_006024		G	27839640	A	G	27839640	2	3	742	1	0	0	0	0	0	0	0	1	15599	98	4	3		3	TAX1BP1	7	27839640	Silent	SNP	A	TCGA-KN-8436-01A-11D-2310-10		27839640	131299023	58	43369											
PHTF2	57157	mdanderson.org	37	7	77569448	77569448	+	Silent	SNP	A	A	G			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr7:77569448A>G	ENST00000248550.7	+	13	1645	c.1569A>G	c.(1567-1569)acA>acG	p.T523T	PHTF2_ENST00000307305.8_Silent_p.T485T|PHTF2_ENST00000422959.2_Silent_p.T489T|PHTF2_ENST00000424760.1_Silent_p.T485T|PHTF2_ENST00000416283.2_Silent_p.T489T|PHTF2_ENST00000275575.7_Silent_p.T485T			Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	523					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						CTCAAGCTACAGACTTGGAAC	0.368																																																0													110	101	104					7																	77569448		1860	4104	5964	SO:0001819	synonymous_variant	57157			AL136883	CCDS47621.1, CCDS47622.1, CCDS47623.1, CCDS47624.1	7q11.23-q21	2008-02-01			ENSG00000006576	ENSG00000006576			13411	protein-coding gene	gene with protein product						10729229	Standard	NM_020432		Approved	DKFZp434D166	uc003ugq.4	Q8N3S3	OTTHUMG00000155557	ENST00000248550.7:c.1569A>G	7.37:g.77569448A>G			A0JP04|A0JP05|A4D1C2|E9PEE3|G5E9H7|Q6NW35|Q8TBW4|Q9H099	Silent	SNP	ENST00000248550.7	37																																																																																					0.368	PHTF2-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000340638.2	NM_020432		G	77569448	A	G	77569448	2	3	742	1	0	0	0	0	0	0	0	1	11865	175	7	3		3	PHTF2	7	77569448	Silent	SNP	A	TCGA-KN-8436-01A-11D-2310-10	49729808	77569448	81569215	59	43370											
PCLO	27445	broad.mit.edu;mdanderson.org	37	7	82579610	82579610	+	Missense_Mutation	SNP	C	C	T	rs202185916		TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr7:82579610C>T	ENST00000333891.9	-	6	10631	c.10294G>A	c.(10294-10296)Gat>Aat	p.D3432N	PCLO_ENST00000437081.1_Missense_Mutation_p.D152N|PCLO_ENST00000423517.2_Missense_Mutation_p.D3432N	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						CGGGGATCATCTGTCATATTT	0.418													C|||	1	0.000199681	0.0	0.0	5008	,	,		21775	0.0		0.001	False		,,,				2504	0.0															0								C	ASN/ASP,ASN/ASP	0,3786		0,0,1893	124	114	117		10294,10294	5.9	1	7		117	4,8234		0,4,4115	yes	missense,missense	PCLO	NM_014510.2,NM_033026.5	23,23	0,4,6008	TT,TC,CC		0.0486,0.0,0.0333	possibly-damaging,possibly-damaging	3432/4936,3432/5143	82579610	4,12020	1893	4119	6012	SO:0001583	missense	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.10294G>A	7.37:g.82579610C>T	ENSP00000334319:p.Asp3432Asn			Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	13.27	2.187005	0.38609	0.0	4.86E-4	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517;ENST00000437081	T;T;T	0.35048	2.4;2.4;1.33	5.95	5.95	0.96441	.	.	.	.	.	T	0.42017	0.1184	L	0.36672	1.1	0.36920	D	0.891354	B;P;P	0.46142	0.023;0.873;0.873	B;P;P	0.47346	0.023;0.544;0.544	T	0.44452	-0.9327	9	0.87932	D	0	.	20.3854	0.98941	0.0:1.0:0.0:0.0	.	3363;3432;3432	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	N	3363;3432;3432;152	ENSP00000334319:D3432N;ENSP00000388393:D3432N;ENSP00000393760:D152N	ENSP00000334319:D3432N	D	-	1	0	PCLO	82417546	0.997000	0.39634	0.997000	0.53966	0.742000	0.42306	4.382000	0.59594	2.825000	0.97269	0.655000	0.94253	GAT		0.418	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		T	82579610	C	T	82579610	3	4	742	1	0	0	0	0	1	0	0	0	11585	913	32	2	5231	2	PCLO	7	82579610	Missense_Mutation	SNP	C	TCGA-KN-8436-01A-11D-2310-10	5010162	82579610	76559053	60	43371											
ADAM22	53616	mdanderson.org	37	7	87607668	87607668	+	Silent	SNP	A	A	G			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr7:87607668A>G	ENST00000265727.7	+	3	343	c.264A>G	c.(262-264)caA>caG	p.Q88Q	ADAM22_ENST00000398209.3_Silent_p.Q88Q|ADAM22_ENST00000398204.4_Silent_p.Q88Q|ADAM22_ENST00000439864.1_Silent_p.Q88Q|ADAM22_ENST00000315984.7_Silent_p.Q88Q|ADAM22_ENST00000398201.4_Silent_p.Q88Q			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	88					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)			ATGTTGACCAAGCAAGCTTCC	0.348																																																0													198	175	182					7																	87607668		1890	4112	6002	SO:0001819	synonymous_variant	53616			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.264A>G	7.37:g.87607668A>G			O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Silent	SNP	ENST00000265727.7	37	CCDS47637.1																																																																																				0.348	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268370.2	NM_021723		G	87607668	A	G	87607668	2	3	742	1	0	0	0	0	0	0	0	1	244	69	3	3		3	ADAM22	7	87607668	Silent	SNP	A	TCGA-KN-8436-01A-11D-2310-10	5028058	87607668	71530995	61	43372											
DOCK4	9732	mdanderson.org;bcgsc.ca	37	7	111580241	111580241	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr7:111580241A>G	ENST00000437633.1	-	11	1157	c.901T>C	c.(901-903)Ttt>Ctt	p.F301L	DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000428084.1_Missense_Mutation_p.F301L	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	301					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)				GCACAGCCAAAGGGTCGTCGG	0.448																																																0													181	187	185					7																	111580241		1968	4144	6112	SO:0001583	missense	9732				CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.901T>C	7.37:g.111580241A>G	ENSP00000404179:p.Phe301Leu		O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	CCDS47688.1	.	.	.	.	.	.	.	.	.	.	A	17.93	3.509593	0.64522	.	.	ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250	T;T	0.03831	3.79;3.79	6.06	4.89	0.63831	.	0.095096	0.85682	D	0.000000	T	0.08935	0.0221	M	0.62723	1.935	0.80722	D	1	B;B;B	0.28552	0.049;0.049;0.215	B;B;B	0.32465	0.024;0.016;0.146	T	0.03641	-1.1017	10	0.52906	T	0.07	.	13.4862	0.61366	0.8694:0.1306:0.0:0.0	.	301;301;301	A4D0S8;Q149N5;Q8N1I0	.;.;DOCK4_HUMAN	L	289;301;301;289;300	ENSP00000410746:F301L;ENSP00000404179:F301L	ENSP00000345432:F289L	F	-	1	0	DOCK4	111367477	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	6.873000	0.75541	1.091000	0.41335	0.533000	0.62120	TTT		0.448	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		G	111580241	A	G	111580241	3	3	742	1	0	0	0	0	1	0	0	0	4691	72	3	3	5167	3	DOCK4	7	111580241	Missense_Mutation	SNP	A	TCGA-KN-8436-01A-11D-2310-10	23972573	111580241	47558422	62	43373											
FLNC	2318	bcgsc.ca	37	7	128477551	128477551	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr7:128477551C>T	ENST00000325888.8	+	4	1060	c.799C>T	c.(799-801)Cct>Tct	p.P267S	FLNC_ENST00000346177.6_Missense_Mutation_p.P267S	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	267					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						ACCTGGTGCCCCTGTTCGATC	0.592																																																0													132	143	139					7																	128477551		2172	4295	6467	SO:0001583	missense	2318			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"actin binding protein 280"	102565	"filamin C, gamma (actin binding protein 280)"	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.799C>T	7.37:g.128477551C>T	ENSP00000327145:p.Pro267Ser		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.187648	0.78789	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.87491	-2.26;-2.24	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	D	0.89287	0.6672	M	0.84082	2.675	0.58432	D	0.999999	P;P	0.42827	0.477;0.791	B;B	0.41374	0.107;0.355	D	0.91376	0.5123	10	0.87932	D	0	.	17.7208	0.88350	0.0:1.0:0.0:0.0	.	267;267	Q14315-2;Q14315	.;FLNC_HUMAN	S	267	ENSP00000327145:P267S;ENSP00000344002:P267S	ENSP00000327145:P267S	P	+	1	0	FLNC	128264787	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	7.818000	0.86416	2.431000	0.82371	0.655000	0.94253	CCT		0.592	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			T	128477551	C	T	128477551	3	4	742	1	0	0	0	0	1	0	0	0	5937	623	22	2	813	2	FLNC	7	128477551	Missense_Mutation	SNP	C	TCGA-KN-8436-01A-11D-2310-10	16897310	128477551	30661112	63	43374											
ARHGEF5	7984	mdanderson.org	37	7	144070326	144070326	+	Silent	SNP	A	A	G	rs201695853	byFrequency	TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr7:144070326A>G	ENST00000056217.5	+	10	4263	c.4089A>G	c.(4087-4089)cgA>cgG	p.R1363R	ARHGEF5_ENST00000471847.2_Silent_p.R285R	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	1363					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)|myeloid dendritic cell chemotaxis (GO:0002408)|positive regulation of podosome assembly (GO:0071803)|regulation of Rho GTPase activity (GO:0032319)		GTP binding (GO:0005525)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					AGAGTATGCGACGGACAGAGG	0.512													A|||	3	0.000599042	0.0	0.0043	5008	,	,		19709	0.0		0.0	False		,,,				2504	0.0															0													127	118	121					7																	144070326		2055	4072	6127	SO:0001819	synonymous_variant	7984			U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"Rho guanine nucleotide exchange factors"	13209	protein-coding gene	gene with protein product	"transforming immortalized mammary oncogene", "guanine nucleotide regulatory protein TIM"	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.4089A>G	7.37:g.144070326A>G			A6NNJ2|Q6ZML7	Silent	SNP	ENST00000056217.5	37	CCDS34771.1	.	.	.	.	.	.	.	.	.	.	A	2.328	-0.354109	0.05173	.	.	ENSG00000050327	ENST00000474817	.	.	.	4.54	-9.07	0.00724	.	.	.	.	.	T	0.42921	0.1224	.	.	.	0.53005	D	0.999967	.	.	.	.	.	.	T	0.49925	-0.8887	4	.	.	.	-9.5765	5.4746	0.16688	0.146:0.309:0.4434:0.1015	.	.	.	.	G	617	.	.	D	+	2	0	ARHGEF5	143701259	0.047000	0.20315	0.213000	0.23690	0.278000	0.26855	-0.764000	0.04735	-2.655000	0.00422	-1.106000	0.02097	GAC		0.512	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349981.1	NM_005435		G	144070326	A	G	144070326	2	3	742	1	0	0	0	0	0	0	0	1	909	262	10	3		3	ARHGEF5	7	144070326	Silent	SNP	A	TCGA-KN-8436-01A-11D-2310-10	15592775	144070326	15068337	64	43375											
DCAF13	25879	mdanderson.org	37	8	104442840	104442840	+	Splice_Site	SNP	A	A	G			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr8:104442840A>G	ENST00000297579.5	+	6	1358	c.1081A>G	c.(1081-1083)Aca>Gca	p.T361A	DCAF13_ENST00000521999.1_3'UTR	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	209					protein ubiquitination (GO:0016567)|rRNA processing (GO:0006364)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						TTGTTTTTAGACATTTCTCTT	0.363																																																0													226	218	221					8																	104442840		2203	4300	6503	SO:0001630	splice_region_variant	25879			AK074725	CCDS34934.1	8q22.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000164934	ENSG00000164934		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	24535	protein-coding gene	gene with protein product			"WD repeats and SOF1 domain containing"	WDSOF1		11042152	Standard	NM_015420		Approved	DKFZP564O0463, Gm83, HSPC064	uc003yln.3	Q9NV06	OTTHUMG00000164888	ENST00000297579.5:c.1081-1A>G	8.37:g.104442840A>G			Q3MII9|Q8NCH8|Q8TC51|Q96JY7|Q9NZX3	Missense_Mutation	SNP	ENST00000297579.5	37	CCDS34934.1	.	.	.	.	.	.	.	.	.	.	A	16.43	3.120313	0.56613	.	.	ENSG00000164934	ENST00000297579	T	0.01347	4.99	5.25	5.25	0.73442	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	0.03871	0.0109	M	0.77712	2.385	0.80722	D	1	B	0.27117	0.168	B	0.34489	0.184	T	0.42396	-0.9454	9	.	.	.	-18.7305	15.1592	0.72767	1.0:0.0:0.0:0.0	.	209	Q9NV06	DCA13_HUMAN	A	361	ENSP00000297579:T361A	.	T	+	1	0	DCAF13	104512016	1.000000	0.71417	1.000000	0.80357	0.688000	0.40055	6.490000	0.73645	1.996000	0.58369	0.455000	0.32223	ACA		0.363	DCAF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380797.2	NM_015420	Missense_Mutation	G	104442840	A	G	104442840	5	3	742	1	0	0	0	0	0	0	1	0	4268	289	10	3	1103	3	DCAF13	8	104442840	Splice_Site	SNP	A	TCGA-KN-8436-01A-11D-2310-10		104442840	41921182	65	43376											
GRIN3A	116443	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	9	104432589	104432589	+	Missense_Mutation	SNP	C	C	A			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr9:104432589C>A	ENST00000361820.3	-	3	2705	c.2105G>T	c.(2104-2106)gGt>gTt	p.G702V		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	702					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)	GGGAGTCAAACCAAATGGACT	0.473																																																0													130	136	134					9																	104432589		2203	4300	6503	SO:0001583	missense	116443				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.2105G>T	9.37:g.104432589C>A	ENSP00000355155:p.Gly702Val		B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	C	19.11	3.764413	0.69878	.	.	ENSG00000198785	ENST00000361820	T	0.53640	0.61	5.39	5.39	0.77823	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.76169	0.3950	M	0.89534	3.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80999	-0.1131	10	0.87932	D	0	.	19.5908	0.95509	0.0:1.0:0.0:0.0	.	702	Q8TCU5	NMD3A_HUMAN	V	702	ENSP00000355155:G702V	ENSP00000355155:G702V	G	-	2	0	GRIN3A	103472410	1.000000	0.71417	1.000000	0.80357	0.755000	0.42902	7.773000	0.85462	2.714000	0.92807	0.580000	0.79431	GGT		0.473	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			A	104432589	C	A	104432589	3	1	742	1	0	0	0	0	1	0	0	0	6785	507	18	4	1270	4	GRIN3A	9	104432589	Missense_Mutation	SNP	C	TCGA-KN-8436-01A-11D-2310-10		104432589	36780842	66	43377											
EPB41L4B	54566	mdanderson.org	37	9	112015799	112015799	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr9:112015799A>G	ENST00000374566.3	-	12	1718	c.1201T>C	c.(1201-1203)Tcc>Ccc	p.S401P	EPB41L4B_ENST00000374557.4_Missense_Mutation_p.S401P	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	401					actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CGTAACCTGGAGCCATGTGTA	0.408																																																0													154	160	158					9																	112015799		1894	4125	6019	SO:0001583	missense	54566			AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.1201T>C	9.37:g.112015799A>G	ENSP00000363694:p.Ser401Pro		Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Missense_Mutation	SNP	ENST00000374566.3	37	CCDS43859.1	.	.	.	.	.	.	.	.	.	.	A	14.04	2.416937	0.42918	.	.	ENSG00000095203	ENST00000262536;ENST00000374566;ENST00000374557;ENST00000311609	D;D	0.88741	-2.42;-2.42	5.26	-3.23	0.05109	FERM adjacent (FA) (1);	0.623793	0.13393	N	0.391269	D	0.84511	0.5488	L	0.45581	1.43	0.23787	N	0.996842	B;P	0.34562	0.307;0.457	B;B	0.41412	0.132;0.356	T	0.76713	-0.2858	10	0.66056	D	0.02	.	7.251	0.26150	0.5718:0.2369:0.0:0.1913	.	401;401	Q9H329-2;Q9H329	.;E41LB_HUMAN	P	86;401;401;323	ENSP00000363694:S401P;ENSP00000363685:S401P	ENSP00000262536:S86P	S	-	1	0	EPB41L4B	111055620	0.042000	0.20092	0.079000	0.20413	0.971000	0.66376	0.089000	0.15002	-0.902000	0.03886	-1.508000	0.00951	TCC		0.408	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053592.1	NM_018424		G	112015799	A	G	112015799	3	3	742	1	0	0	0	0	1	0	0	0	5158	304	11	3	1713	3	EPB41L4B	9	112015799	Missense_Mutation	SNP	A	TCGA-KN-8436-01A-11D-2310-10	7583210	112015799	29197632	67	43378											
C9orf152	401546	mdanderson.org	37	9	112963527	112963527	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr9:112963527T>C	ENST00000400613.4	-	2	1030	c.421A>G	c.(421-423)Agg>Ggg	p.R141G	C9orf152_ENST00000473442.1_Intron	NM_001012993.2	NP_001013011.2	Q5JTZ5	CI152_HUMAN	chromosome 9 open reading frame 152	141										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						AGCTTGCCCCTATGATGTACT	0.537																																																0													184	169	174					9																	112963527		2203	4300	6503	SO:0001583	missense	401546			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.421A>G	9.37:g.112963527T>C	ENSP00000383456:p.Arg141Gly		A8MWT6	Missense_Mutation	SNP	ENST00000400613.4	37	CCDS35102.2	.	.	.	.	.	.	.	.	.	.	T	10.77	1.444469	0.25987	.	.	ENSG00000188959	ENST00000400613	.	.	.	4.53	0.742	0.18341	.	0.457912	0.20100	N	0.099247	T	0.15609	0.0376	N	0.08118	0	0.09310	N	1	B	0.25169	0.119	B	0.24155	0.051	T	0.13388	-1.0511	9	0.54805	T	0.06	-7.2526	4.2112	0.10512	0.0:0.184:0.3508:0.4652	.	141	Q5JTZ5	CI152_HUMAN	G	141	.	ENSP00000383456:R141G	R	-	1	2	C9orf152	112003348	0.006000	0.16342	0.000000	0.03702	0.003000	0.03518	0.794000	0.26958	0.112000	0.17975	-0.250000	0.11733	AGG		0.537	C9orf152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053602.2	NM_001012993		C	112963527	T	C	112963527	3	2	742	1	0	0	0	0	1	0	0	0	2465	1521	53	3	302	3	C9orf152	9	112963527	Missense_Mutation	SNP	T	TCGA-KN-8436-01A-11D-2310-10	947728	112963527	28249904	68	43379											
DNM1	1759	bcgsc.ca	37	9	130984588	130984588	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr9:130984588A>G	ENST00000372923.3	+	7	1054	c.962A>G	c.(961-963)gAc>gGc	p.D321G	DNM1_ENST00000475805.1_Missense_Mutation_p.D321G|DNM1_ENST00000486160.1_Missense_Mutation_p.D321G|DNM1_ENST00000393594.3_Missense_Mutation_p.D321G|DNM1_ENST00000341179.7_Missense_Mutation_p.D321G	NM_004408.2	NP_004399.2	Q05193	DYN1_HUMAN	dynamin 1	321					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						CGCCCTGATGACCCAGCTCGC	0.622																																					GBM(113;146 1575 2722 28670 29921)											0													69	66	67					9																	130984588		2203	4300	6503	SO:0001583	missense	1759			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.962A>G	9.37:g.130984588A>G	ENSP00000362014:p.Asp321Gly		A6NLM6|Q5SYX0|Q5SYX2|Q6P3T6|Q86VD2	Missense_Mutation	SNP	ENST00000372923.3	37	CCDS6895.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.293179	0.80914	.	.	ENSG00000106976	ENST00000475805;ENST00000341179;ENST00000372923;ENST00000393589;ENST00000393594;ENST00000486160	T;T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94;-0.94	5.93	5.93	0.95920	Dynamin central domain (1);	0.000000	0.85682	D	0.000000	D	0.83885	0.5351	M	0.64080	1.96	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.85130	0.997;0.997;0.997	T	0.81473	-0.0917	10	0.27082	T	0.32	-4.3692	16.3817	0.83467	1.0:0.0:0.0:0.0	.	321;321;321	Q05193;Q05193-3;Q05193-2	DYN1_HUMAN;.;.	G	321;321;321;316;321;321	ENSP00000419225:D321G;ENSP00000345680:D321G;ENSP00000362014:D321G;ENSP00000377219:D321G;ENSP00000420045:D321G	ENSP00000345680:D321G	D	+	2	0	DNM1	130024409	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	9.339000	0.96797	2.276000	0.75962	0.454000	0.30748	GAC		0.622	DNM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054367.1	NM_004408		G	130984588	A	G	130984588	3	3	742	1	0	0	0	0	1	0	0	0	4672	275	10	3	988	3	DNM1	9	130984588	Missense_Mutation	SNP	A	TCGA-KN-8436-01A-11D-2310-10	18021061	130984588	10228843	69	43380											
KCNT1	57582	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	9	138641963	138641963	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr9:138641963G>A	ENST00000263604.3	+	3	217	c.217G>A	c.(217-219)Gtc>Atc	p.V73I	KCNT1_ENST00000487664.1_Missense_Mutation_p.V44I|KCNT1_ENST00000298480.5_Missense_Mutation_p.V92I|KCNT1_ENST00000371757.2_Missense_Mutation_p.V92I|KCNT1_ENST00000488444.2_Missense_Mutation_p.V73I|KCNT1_ENST00000486577.2_Missense_Mutation_p.V53I|KCNT1_ENST00000491806.2_Missense_Mutation_p.V59I|KCNT1_ENST00000490355.2_Missense_Mutation_p.V73I			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	73					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)		GGAGTTCTACGTCAACGAGAA	0.607																																																0													82	68	73					9																	138641963		2203	4300	6503	SO:0001583	missense	57582			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.217G>A	9.37:g.138641963G>A	ENSP00000263604:p.Val73Ile		B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Missense_Mutation	SNP	ENST00000263604.3	37		.	.	.	.	.	.	.	.	.	.	g	22.2	4.255822	0.80135	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000473941;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;T;T	0.50548	1.75;1.66;1.66;0.74;1.72	4.18	4.18	0.49190	.	0.000000	0.64402	D	0.000002	T	0.59622	0.2207	M	0.72353	2.195	0.80722	D	1	D;D	0.58268	0.97;0.982	P;P	0.53006	0.522;0.715	T	0.66630	-0.5875	10	0.59425	D	0.04	-9.5267	15.8483	0.78907	0.0:0.0:1.0:0.0	.	92;44	B9EGP2;G5E9V0	.;.	I	44;92;92;39;53;59;73;73;73	ENSP00000417851:V44I;ENSP00000298480:V92I;ENSP00000360822:V92I;ENSP00000420764:V39I;ENSP00000263604:V73I	ENSP00000263604:V73I	V	+	1	0	KCNT1	137781784	1.000000	0.71417	0.951000	0.38953	0.904000	0.53231	9.449000	0.97603	2.053000	0.61076	0.561000	0.74099	GTC		0.607	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822		A	138641963	G	A	138641963	3	1	742	1	0	0	0	0	1	0	0	0	8093	1145	40	1	284	1	KCNT1	9	138641963	Missense_Mutation	SNP	G	TCGA-KN-8436-01A-11D-2310-10	7657375	138641963	2571468	70	43381											
TUBB8	347688	mdanderson.org	37	10	94011	94011	+	Silent	SNP	G	G	T			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr10:94011G>T	ENST00000309812.4	-	4	383	c.321C>A	c.(319-321)acC>acA	p.T107T	TUBB8_ENST00000447903.2_Silent_p.T35T|TUBB8_ENST00000332708.5_Missense_Mutation_p.P71Q|TUBB8_ENST00000413237.3_5'UTR	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	107					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)		CCGCGCCTTCGGTGTAGTGTC	0.597																																					Pancreas(192;2041 3010 9013 18103)											0													75	63	67					10																	94011		2203	4300	6503	SO:0001819	synonymous_variant	347688			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.321C>A	10.37:g.94011G>T			Q5SQX9|Q8WZ78	Silent	SNP	ENST00000309812.4	37	CCDS7051.1	.	.	.	.	.	.	.	.	.	.	T	2.327	-0.354190	0.05173	.	.	ENSG00000173876	ENST00000309812;ENST00000332708	.	.	.	.	.	.	.	.	.	.	.	T	0.54983	0.1892	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56920	-0.7899	4	0.87932	D	0	.	4.0636	0.09849	0.0:1.0E-4:0.3593:0.6406	.	.	.	.	Q	115;71	.	ENSP00000311042:P115Q	P	-	2	0	RP11-631M21.2	84011	0.004000	0.15560	0.255000	0.24374	0.259000	0.26198	-3.168000	0.00574	-2.119000	0.00827	-2.245000	0.00285	CCG		0.597	TUBB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467795.1	NM_177987		T	94011	G	T	94011	2	4	742	1	0	0	0	0	0	0	0	1	16766	1103	39	4		4	TUBB8	10	94011	Silent	SNP	G	TCGA-KN-8436-01A-11D-2310-10		94011	135440736	71	43382											
HNRNPF	3185	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	10	43882268	43882268	+	Missense_Mutation	SNP	T	T	A			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr10:43882268T>A	ENST00000544000.1	-	4	1472	c.1065A>T	c.(1063-1065)agA>agT	p.R355S	HNRNPF_ENST00000356053.3_Missense_Mutation_p.R355S|HNRNPF_ENST00000337970.3_Missense_Mutation_p.R355S|HNRNPF_ENST00000498176.1_5'Flank|HNRNPF_ENST00000443950.2_Missense_Mutation_p.R355S|HNRNPF_ENST00000357065.4_Missense_Mutation_p.R355S	NM_001098207.1	NP_001091677.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	355	Interaction with RNA.|RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				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)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						GTTCTATATATCTGTGCTGCA	0.517																																																0													111	113	112					10																	43882268		2203	4300	6503	SO:0001583	missense	3185				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.1065A>T	10.37:g.43882268T>A	ENSP00000438061:p.Arg355Ser		B3KM84|Q5T0N2|Q96AU2	Missense_Mutation	SNP	ENST00000544000.1	37	CCDS7204.1	.	.	.	.	.	.	.	.	.	.	T	13.88	2.368200	0.42003	.	.	ENSG00000169813	ENST00000544000;ENST00000443950;ENST00000356053;ENST00000357065;ENST00000337970;ENST00000540544	T;T;T;T;T	0.11930	2.73;2.73;2.73;2.73;2.73	4.38	3.22	0.36961	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.31796	0.0808	M	0.76838	2.35	0.58432	D	0.999999	P	0.44380	0.834	P	0.58520	0.84	T	0.02942	-1.1091	10	0.62326	D	0.03	-30.795	9.5933	0.39559	0.0:0.0:0.1767:0.8233	.	355	P52597	HNRPF_HUMAN	S	355;355;355;355;355;278	ENSP00000438061:R355S;ENSP00000400433:R355S;ENSP00000348345:R355S;ENSP00000349573:R355S;ENSP00000338477:R355S	ENSP00000338477:R355S	R	-	3	2	HNRNPF	43202274	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	0.986000	0.29590	0.979000	0.38497	0.533000	0.62120	AGA		0.517	HNRNPF-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047705.2			A	43882268	T	A	43882268	3	1	742	1	0	0	0	0	1	0	0	0	7267	1432	50	5	186	5	HNRNPF	10	43882268	Missense_Mutation	SNP	T	TCGA-KN-8436-01A-11D-2310-10	43788257	43882268	91652479	72	43383											
ANK3	288	mdanderson.org	37	10	61815749	61815749	+	Silent	SNP	T	T	C			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr10:61815749T>C	ENST00000280772.2	-	42	12923	c.12732A>G	c.(12730-12732)gaA>gaG	p.E4244E	RP11-388P9.2_ENST00000414383.1_RNA|ANK3_ENST00000373827.2_Silent_p.E1728E|ANK3_ENST00000503366.1_Silent_p.E1735E|ANK3_ENST00000355288.2_Silent_p.E868E	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	4244					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						ATTTGCCAGCTTCTCCTTTGA	0.383																																																0													87	86	86					10																	61815749		2203	4300	6503	SO:0001819	synonymous_variant	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.12732A>G	10.37:g.61815749T>C			B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	ENST00000280772.2	37	CCDS7258.1																																																																																				0.383	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		C	61815749	T	C	61815749	2	2	742	1	0	0	0	0	0	0	0	1	622	1606	56	3		3	ANK3	10	61815749	Silent	SNP	T	TCGA-KN-8436-01A-11D-2310-10	17933481	61815749	73718998	73	43384											
NDST2	8509	broad.mit.edu	37	10	75563396	75563397	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr10:75563396_75563397insG	ENST00000309979.6	-	11	2633_2634	c.2077_2078insC	c.(2077-2079)ctgfs	p.L693fs	ZSWIM8-AS1_ENST00000456638.2_RNA|RP11-574K11.31_ENST00000603027.1_Frame_Shift_Ins_p.L693fs|NDST2_ENST00000299641.4_Frame_Shift_Ins_p.L570fs			P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	693	Heparan sulfate N-sulfotransferase 2.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|hydrolase activity (GO:0016787)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					GGCTCGTGGCAGGAGGGCAGCC	0.535																																																0																																										SO:0001589	frameshift_variant	8509			U36601	CCDS7335.1	10q22	2007-03-14			ENSG00000166507	ENSG00000166507		"Sulfotransferases, membrane-bound"	7681	protein-coding gene	gene with protein product		603268				9601056	Standard	NM_003635		Approved	NST2, HSST2	uc001jvk.2	P52849	OTTHUMG00000018489	ENST00000309979.6:c.2078dupC	10.37:g.75563398_75563398dupG	ENSP00000310657:p.Leu693fs		Q2TB32|Q59H89	Frame_Shift_Ins	INS	ENST00000309979.6	37	CCDS7335.1																																																																																				0.535	NDST2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048710.1	NM_003635		G	75563397	-	G	75563396	7	5	742	1	0	1	1	0	0	0	0	0	10258	188	7	0	593	0	NDST2	10	75563396	Frame_Shift_Ins	INS	-	TCGA-KN-8436-01A-11D-2310-10	13747647	75563396	59971351	74	43385											
VTI1A	143187	mdanderson.org	37	10	114224340	114224340	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr10:114224340C>T	ENST00000393077.2	+	3	304	c.188C>T	c.(187-189)cCa>cTa	p.P63L	VTI1A_ENST00000432306.1_Missense_Mutation_p.P63L	NM_145206.2	NP_660207.2	Q96AJ9	VTI1A_HUMAN	vesicle transport through interaction with t-SNAREs 1A	63					intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|SNARE complex (GO:0031201)|synaptic vesicle (GO:0008021)	SNAP receptor activity (GO:0005484)		VTI1A/TCF7L2(8)	breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		Colorectal(252;0.0314)|Breast(234;0.183)		Epithelial(162;0.0126)|all cancers(201;0.0487)		CGAGAGATACCACCCCAAAGT	0.383			T	TCF7L2	colorectal																																		Dom	yes		10	10q25.2	143187	vesicle transport through interaction with t-SNAREs homolog 1A		E	0													117	108	111					10																	114224340		2203	4300	6503	SO:0001583	missense	143187			BC017052	CCDS7575.2	10q25.2	2012-12-10	2012-12-10		ENSG00000151532	ENSG00000151532			17792	protein-coding gene	gene with protein product		614316	"vesicle transport through interaction with t-SNAREs homolog 1A (yeast)"			9446565	Standard	NM_145206		Approved	MVti1, Vti1a, Vti1-rp2	uc001kzz.3	Q96AJ9	OTTHUMG00000019063	ENST00000393077.2:c.188C>T	10.37:g.114224340C>T	ENSP00000376792:p.Pro63Leu		A2A307|B4E137|Q5W0D7	Missense_Mutation	SNP	ENST00000393077.2	37	CCDS7575.2	.	.	.	.	.	.	.	.	.	.	C	27.5	4.839934	0.91117	.	.	ENSG00000151532	ENST00000393077;ENST00000432306	.	.	.	5.62	5.62	0.85841	t-SNARE (1);Vesicle transport v-SNARE, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.79661	0.4484	M	0.78456	2.415	0.80722	D	1	P;D	0.59767	0.899;0.986	P;D	0.64144	0.834;0.922	T	0.81154	-0.1062	9	0.66056	D	0.02	-30.1432	19.6486	0.95791	0.0:1.0:0.0:0.0	.	63;63	Q5W0D7;Q96AJ9	.;VTI1A_HUMAN	L	63	.	ENSP00000376792:P63L	P	+	2	0	VTI1A	114214330	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.141000	0.77330	2.646000	0.89796	0.591000	0.81541	CCA		0.383	VTI1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050397.2			T	114224340	C	T	114224340	3	4	742	1	0	0	0	0	1	0	0	0	17240	594	21	2	198	2	VTI1A	10	114224340	Missense_Mutation	SNP	C	TCGA-KN-8436-01A-11D-2310-10	38660944	114224340	21310407	75	43386											
MUC6	4588	mdanderson.org	37	11	1016738	1016738	+	Silent	SNP	A	A	T			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr11:1016738A>T	ENST00000421673.2	-	31	6113	c.6063T>A	c.(6061-6063)acT>acA	p.T2021T		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2021	Thr-rich.				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)		TGACTGTGTGAGTACTTGGAG	0.552																																																0													703	637	659					11																	1016738		2202	4294	6496	SO:0001819	synonymous_variant	4588			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.6063T>A	11.37:g.1016738A>T			O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	CCDS44513.1																																																																																				0.552	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		T	1016738	A	T	1016738	2	4	742	1	0	0	0	0	0	0	0	1	9982	291	11	5		5	MUC6	11	1016738	Silent	SNP	A	TCGA-KN-8436-01A-11D-2310-10		1016738	133989778	76	43387			3	106		3	3	730	N	G_A	4.598539e-06
MUC6	4588	bcgsc.ca	37	11	1016809	1016809	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr11:1016809G>T	ENST00000421673.2	-	31	6042	c.5992C>A	c.(5992-5994)Cca>Aca	p.P1998T		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1998	Thr-rich.				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)		GGGTGTGATGGGGTTGGATAG	0.537																																																0													1427	1415	1419					11																	1016809		2203	4298	6501	SO:0001583	missense	4588			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.5992C>A	11.37:g.1016809G>T	ENSP00000406861:p.Pro1998Thr		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	8.115	0.779667	0.16120	.	.	ENSG00000184956	ENST00000421673	T	0.16743	2.32	2.76	-1.01	0.10169	.	.	.	.	.	T	0.13372	0.0324	M	0.62723	1.935	0.09310	N	1	B	0.14438	0.01	B	0.06405	0.002	T	0.43798	-0.9369	9	0.08381	T	0.77	.	6.0025	0.19529	0.0:0.1776:0.4618:0.3606	.	1998	Q6W4X9	MUC6_HUMAN	T	1998	ENSP00000406861:P1998T	ENSP00000406861:P1998T	P	-	1	0	MUC6	1006809	0.000000	0.05858	0.002000	0.10522	0.025000	0.11179	-0.427000	0.06999	0.033000	0.15463	-0.864000	0.03007	CCA		0.537	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		T	1016809	G	T	1016809	3	4	742	1	0	0	0	0	1	0	0	0	9982	1232	43	4	1339	4	MUC6	11	1016809	Missense_Mutation	SNP	G	TCGA-KN-8436-01A-11D-2310-10	71	1016809	133989707	77	43388			3	106		3	3	730	N	G_A	4.598539e-06
MUC6	4588	mdanderson.org	37	11	1017467	1017467	+	Silent	SNP	G	G	T			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr11:1017467G>T	ENST00000421673.2	-	31	5384	c.5334C>A	c.(5332-5334)acC>acA	p.T1778T		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1778	Approximate repeats.|Thr-rich.				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)		CAGGGGTTCTGGTGCCTGTAC	0.582																																																0													485	485	485					11																	1017467		2202	4293	6495	SO:0001819	synonymous_variant	4588			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.5334C>A	11.37:g.1017467G>T			O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	CCDS44513.1																																																																																				0.582	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		T	1017467	G	T	1017467	2	4	742	1	0	0	0	0	0	0	0	1	9982	1335	47	4		4	MUC6	11	1017467	Silent	SNP	G	TCGA-KN-8436-01A-11D-2310-10	658	1017467	133989049	78	43389			3	106		3	3	730	N	G_A	4.598539e-06
CTSF	8722	broad.mit.edu;mdanderson.org	37	11	66335107	66335107	+	Silent	SNP	C	C	T			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr11:66335107C>T	ENST00000310325.5	-	3	448	c.339G>A	c.(337-339)gaG>gaA	p.E113E	CTSF_ENST00000533168.1_5'UTR	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F	113					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|vesicle (GO:0031982)	cysteine-type endopeptidase activity (GO:0004197)			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						GTCTTCCGAGCTCATCCAGGA	0.612																																																0													69	71	71					11																	66335107		2200	4295	6495	SO:0001819	synonymous_variant	8722			AF071749	CCDS8144.1	11q13.2	2012-02-29			ENSG00000174080	ENSG00000174080		"Cathepsins"	2531	protein-coding gene	gene with protein product		603539				9822672, 10318784	Standard	NM_003793		Approved	CATSF, CLN13	uc001oip.3	Q9UBX1	OTTHUMG00000167090	ENST00000310325.5:c.339G>A	11.37:g.66335107C>T			B2R964|O95240|Q9NSU4|Q9UKQ5	Silent	SNP	ENST00000310325.5	37	CCDS8144.1																																																																																				0.612	CTSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393047.1	NM_003793		T	66335107	C	T	66335107	2	4	742	1	0	0	0	0	0	0	0	1	4036	796	28	2		2	CTSF	11	66335107	Silent	SNP	C	TCGA-KN-8436-01A-11D-2310-10	65317640	66335107	68671409	79	43390											
RAD52	5893	mdanderson.org	37	12	1023070	1023070	+	Silent	SNP	T	T	C	rs373361304		TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr12:1023070T>C	ENST00000358495.3	-	11	1323	c.1185A>G	c.(1183-1185)caA>caG	p.Q395Q	RAD52_ENST00000535376.1_5'UTR|RAD52_ENST00000539046.1_Silent_p.Q318Q|RAD52_ENST00000430095.2_Silent_p.Q395Q	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	RAD52 homolog (S. cerevisiae)	395					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)			CTGTTGTGCGTTGGTCAGCGC	0.448								Homologous recombination																																								0								T		1,3895		0,1,1947	162	143	149		1185	-0.1	0	12		149	0,8312		0,0,4156	no	coding-synonymous	RAD52	NM_134424.2		0,1,6103	CC,CT,TT		0.0,0.0257,0.0082		395/419	1023070	1,12207	1948	4156	6104	SO:0001819	synonymous_variant	5893				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.1185A>G	12.37:g.1023070T>C			Q13205|Q9Y5T7|Q9Y5T8|Q9Y5T9	Silent	SNP	ENST00000358495.3	37	CCDS8507.2																																																																																				0.448	RAD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206733.2	NM_134424		C	1023070	T	C	1023070	2	2	742	1	0	0	0	0	0	0	0	1	12997	1722	60	3		3	RAD52	12	1023070	Silent	SNP	T	TCGA-KN-8436-01A-11D-2310-10		1023070	132828825	80	43391											
TAS2R43	259289	mdanderson.org	37	12	11244591	11244591	+	Missense_Mutation	SNP	C	C	A	rs73064968	byFrequency	TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr12:11244591C>A	ENST00000531678.1	-	1	321	c.238G>T	c.(238-240)Gta>Tta	p.V80L	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176884.2	NP_795365.2	P59537	T2R43_HUMAN	taste receptor, type 2, member 43	80					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(1)|ovary(1)|prostate(2)|urinary_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		GTAGTTCTTACTTCTACACTA	0.388																																																0													51	44	46					12																	11244591		1913	3938	5851	SO:0001583	missense	259289			AF494237	CCDS53749.1	12p13.2	2012-08-22				ENSG00000255374		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18875	protein-coding gene	gene with protein product		612668				12379855	Standard	NM_176884		Approved	T2R52	uc001qzq.1	P59537		ENST00000531678.1:c.238G>T	12.37:g.11244591C>A	ENSP00000431719:p.Val80Leu		P59546|Q645X4	Missense_Mutation	SNP	ENST00000531678.1	37	CCDS53749.1	.	.	.	.	.	.	.	.	.	.	-	1.743	-0.491269	0.04322	.	.	ENSG00000255374	ENST00000531678	T	0.33654	1.4	1.97	-0.554	0.11811	.	.	.	.	.	T	0.21962	0.0529	L	0.35542	1.07	0.80722	P	0.0	B	0.12630	0.006	B	0.17722	0.019	T	0.24941	-1.0146	8	0.27082	T	0.32	.	3.9175	0.09230	0.272:0.4604:0.2677:0.0	.	80	P59537	T2R43_HUMAN	L	80	ENSP00000431719:V80L	ENSP00000431719:V80L	V	-	1	0	TAS2R43	11135858	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	-0.905000	0.04075	-0.319000	0.08652	0.184000	0.17185	GTA		0.388	TAS2R43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383561.1	NM_176884		A	11244591	C	A	11244591	3	1	742	1	0	0	0	0	1	0	0	0	15586	565	20	4	695	4	TAS2R43	12	11244591	Missense_Mutation	SNP	C	TCGA-KN-8436-01A-11D-2310-10	10221521	11244591	122607304	81	43392											
GPRC5A	9052	mdanderson.org	37	12	13061805	13061805	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr12:13061805A>G	ENST00000014914.5	+	2	1512	c.622A>G	c.(622-624)Aga>Gga	p.R208G	GPRC5A_ENST00000542056.1_Intron	NM_003979.3	NP_003970.1	Q8NFJ5	RAI3_HUMAN	G protein-coupled receptor, class C, group 5, member A	208					signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	GGGCTGGAAGAGACATGGGGC	0.562																																																0													227	202	210					12																	13061805		2203	4300	6503	SO:0001583	missense	9052			AF095448	CCDS8657.1	12p13-p12.3	2014-01-30	2014-01-30	2005-05-03		ENSG00000013588		"GPCR / Class C : Orphans"	9836	protein-coding gene	gene with protein product		604138	"retinoic acid induced 3", "G protein-coupled receptor, family C, group 5, member A"	RAI3, GPCR5A		9857033	Standard	NM_003979		Approved	RAIG1	uc001rba.3	Q8NFJ5		ENST00000014914.5:c.622A>G	12.37:g.13061805A>G	ENSP00000014914:p.Arg208Gly		B3KV45|O95357	Missense_Mutation	SNP	ENST00000014914.5	37	CCDS8657.1	.	.	.	.	.	.	.	.	.	.	A	18.32	3.597318	0.66332	.	.	ENSG00000013588	ENST00000014914;ENST00000534831	D;D	0.88586	-2.4;-2.4	5.42	4.31	0.51392	GPCR, family 3, C-terminal (1);	0.130764	0.50627	D	0.000102	D	0.91496	0.7315	M	0.72894	2.215	0.46437	D	0.999044	D;D	0.54772	0.968;0.968	P;P	0.55303	0.773;0.628	D	0.91580	0.5278	10	0.48119	T	0.1	-20.2389	13.38	0.60762	0.8393:0.1607:0.0:0.0	.	208;208	Q8NFJ5;A8K556	RAI3_HUMAN;.	G	208	ENSP00000014914:R208G;ENSP00000441627:R208G	ENSP00000014914:R208G	R	+	1	2	GPRC5A	12953072	1.000000	0.71417	0.998000	0.56505	0.526000	0.34562	2.719000	0.47244	2.079000	0.62486	0.454000	0.30748	AGA		0.562	GPRC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400682.1			G	13061805	A	G	13061805	3	3	742	1	0	0	0	0	1	0	0	0	6726	296	11	3	624	3	GPRC5A	12	13061805	Missense_Mutation	SNP	A	TCGA-KN-8436-01A-11D-2310-10	1817214	13061805	120790090	82	43393											
RECQL	5965	broad.mit.edu	37	12	21623272	21623272	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr12:21623272delC	ENST00000444129.2	-	15	2274	c.1806delG	c.(1804-1806)tcgfs	p.S603fs	PYROXD1_ENST00000538582.1_3'UTR|PYROXD1_ENST00000240651.9_3'UTR|RECQL_ENST00000421138.2_Frame_Shift_Del_p.S603fs	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ helicase-like	603					DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand renaturation (GO:0000733)	membrane (GO:0016020)|nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						AAGTTTGAGACGATTCAGCCT	0.333								Other identified genes with known or suspected DNA repair function																																								0													16	15	15					12																	21623272		2171	4280	6451	SO:0001589	frameshift_variant	5965			D37984	CCDS31756.1	12p12.1	2014-03-07	2014-03-07	2014-03-07	ENSG00000004700	ENSG00000004700			9948	protein-coding gene	gene with protein product	"DNA helicase Q1-like"	600537	"RecQ protein-like (DNA helicase Q1-like)"			7527136, 7961977	Standard	NM_002907		Approved	RecQ1, RecQL1	uc001rex.3	P46063	OTTHUMG00000169131	ENST00000444129.2:c.1806delG	12.37:g.21623272delC	ENSP00000416739:p.Ser603fs		A8K6G2	Frame_Shift_Del	DEL	ENST00000444129.2	37	CCDS31756.1																																																																																				0.333	RECQL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402371.1	NM_002907		-	21623272	C	-	21623272	7	5	742	1	0	1	0	1	0	0	0	0	13207	523	19	0	147	0	RECQL	12	21623272	Frame_Shift_Del	DEL	C	TCGA-KN-8436-01A-11D-2310-10	8561467	21623272	112228623	83	43394											
DENND5B	160518	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	31540710	31540710	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr12:31540710G>A	ENST00000389082.5	-	21	3916	c.3652C>T	c.(3652-3654)Ctc>Ttc	p.L1218F	DENND5B_ENST00000306833.6_Missense_Mutation_p.L1253F|DENND5B_ENST00000536562.1_Missense_Mutation_p.L1253F	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	1218	RUN 2. {ECO:0000255|PROSITE- ProRule:PRU00178}.				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						CACTGTGGGAGCAGGCGATCC	0.517																																																0													74	71	72					12																	31540710		2034	4187	6221	SO:0001583	missense	160518			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.3652C>T	12.37:g.31540710G>A	ENSP00000373734:p.Leu1218Phe		B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Missense_Mutation	SNP	ENST00000389082.5	37	CCDS44857.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.147927	0.78001	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562	T;T;T	0.68025	-0.3;-0.3;-0.3	5.29	5.29	0.74685	RUN (3);	0.000000	0.64402	D	0.000005	D	0.83408	0.5248	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	0.85166	0.0995	10	0.87932	D	0	-37.8866	19.1165	0.93343	0.0:0.0:1.0:0.0	.	1218;1253	Q6ZUT9;G3V1S3	DEN5B_HUMAN;.	F	1218;1253;1253	ENSP00000373734:L1218F;ENSP00000306482:L1253F;ENSP00000444889:L1253F	ENSP00000306482:L1253F	L	-	1	0	DENND5B	31431977	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.173000	0.65010	2.761000	0.94854	0.655000	0.94253	CTC		0.517	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1	NM_144973		A	31540710	G	A	31540710	3	1	742	1	0	0	0	0	1	0	0	0	4439	971	34	2	176	2	DENND5B	12	31540710	Missense_Mutation	SNP	G	TCGA-KN-8436-01A-11D-2310-10	9917438	31540710	102311185	84	43395											
C12orf35	55196	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	12	32136955	32136955	+	Silent	SNP	T	T	A			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr12:32136955T>A	ENST00000312561.4	+	4	3480	c.3066T>A	c.(3064-3066)ccT>ccA	p.P1022P	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	1022																	ATATTTACCCTCAGGAAATAG	0.433																																																0													72	68	69					12																	32136955		2203	4299	6502	SO:0001819	synonymous_variant	55196			AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 35"	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.3066T>A	12.37:g.32136955T>A			B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Silent	SNP	ENST00000312561.4	37	CCDS8725.2																																																																																				0.433	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		A	32136955	T	A	32136955	2	1	742	1	0	0	0	0	0	0	0	1	1684	1538	54	5		5	C12orf35	12	32136955	Silent	SNP	T	TCGA-KN-8436-01A-11D-2310-10	596245	32136955	101714940	85	43396											
KRT6C	286887	mdanderson.org	37	12	52867105	52867105	+	Silent	SNP	G	G	A	rs1053684		TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr12:52867105G>A	ENST00000252250.6	-	1	464	c.417C>T	c.(415-417)acC>acT	p.T139T		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	139	Head.				intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		TCTGGTTGACGGTGACCTCTT	0.637																																																0													51	34	41					12																	52867105		2149	3730	5879	SO:0001819	synonymous_variant	286887			L42611	CCDS8829.1	12q13.13	2013-01-16	2006-07-17	2006-07-17	ENSG00000170465	ENSG00000170465		"-", "Intermediate filaments type II, keratins (basic)"	20406	protein-coding gene	gene with protein product		612315	"keratin 6E"	KRT6E		7543104, 16831889	Standard	NM_173086		Approved		uc001sal.4	P48668	OTTHUMG00000169596	ENST00000252250.6:c.417C>T	12.37:g.52867105G>A			A1L4L5|P48666|Q2TAZ9|Q7RTN9	Silent	SNP	ENST00000252250.6	37	CCDS8829.1																																																																																				0.637	KRT6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404976.1	NM_173086		A	52867105	G	A	52867105	2	1	742	1	0	0	0	0	0	0	0	1	8484	1103	39	1		1	KRT6C	12	52867105	Silent	SNP	G	TCGA-KN-8436-01A-11D-2310-10	20730150	52867105	80984790	86	43397											
KRT6A	3853	mdanderson.org	37	12	52886556	52886556	+	Silent	SNP	G	G	A	rs1707768		TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr12:52886556G>A	ENST00000330722.6	-	1	485	c.417C>T	c.(415-417)acC>acT	p.T139T		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	139	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)		TCTGGTTGACGGTGACCTCTT	0.622																																																0													109	105	106					12																	52886556		2203	4300	6503	SO:0001819	synonymous_variant	3853			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.417C>T	12.37:g.52886556G>A			A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Silent	SNP	ENST00000330722.6	37	CCDS41786.1																																																																																				0.622	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404978.2	NM_005554		A	52886556	G	A	52886556	2	1	742	1	0	0	0	0	0	0	0	1	8482	1103	39	1		1	KRT6A	12	52886556	Silent	SNP	G	TCGA-KN-8436-01A-11D-2310-10	19451	52886556	80965339	87	43398											
KRT76	51350	mdanderson.org	37	12	53165930	53165930	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr12:53165930T>C	ENST00000332411.2	-	5	1138	c.1085A>G	c.(1084-1086)gAg>gGg	p.E362G		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	362	Coil 2.|Rod.				cytoskeleton organization (GO:0007010)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGCAATCTCCTCATACTGGGC	0.567																																																0													93	81	85					12																	53165930		2203	4300	6503	SO:0001583	missense	51350			M99063	CCDS8838.1	12q13.13	2013-06-25			ENSG00000185069	ENSG00000185069		"-", "Intermediate filaments type II, keratins (basic)"	24430	protein-coding gene	gene with protein product						1282112, 16831889	Standard	NM_015848		Approved	HUMCYT2A, KRT2B, KRT2P	uc001sax.3	Q01546	OTTHUMG00000169797	ENST00000332411.2:c.1085A>G	12.37:g.53165930T>C	ENSP00000330101:p.Glu362Gly		B4DRR3|Q7Z795	Missense_Mutation	SNP	ENST00000332411.2	37	CCDS8838.1	.	.	.	.	.	.	.	.	.	.	T	17.38	3.375478	0.61735	.	.	ENSG00000185069	ENST00000332411	D	0.93133	-3.17	4.42	4.42	0.53409	Filament (1);	0.000000	0.44688	D	0.000427	D	0.97736	0.9257	H	0.97186	3.955	0.53005	D	0.99996	D	0.89917	1.0	D	0.79108	0.992	D	0.99004	1.0812	10	0.87932	D	0	.	14.3579	0.66750	0.0:0.0:0.0:1.0	.	362	Q01546	K22O_HUMAN	G	362	ENSP00000330101:E362G	ENSP00000330101:E362G	E	-	2	0	KRT76	51452197	1.000000	0.71417	0.969000	0.41365	0.186000	0.23388	8.037000	0.88933	1.942000	0.56320	0.379000	0.24179	GAG		0.567	KRT76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405928.1	NM_015848		C	53165930	T	C	53165930	3	2	742	1	0	0	0	0	1	0	0	0	8491	1551	54	3	851	3	KRT76	12	53165930	Missense_Mutation	SNP	T	TCGA-KN-8436-01A-11D-2310-10	279374	53165930	80685965	88	43399											
C12orf64	283310	hgsc.bcm.edu;ucsc.edu	37	12	80655788	80655788	+	Silent	SNP	C	C	T	rs150597873		TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr12:80655788C>T	ENST00000547103.1	+	18	1908	c.1902C>T	c.(1900-1902)caC>caT	p.H634H	OTOGL_ENST00000458043.2_Silent_p.H634H			Q3ZCN5	OTOGL_HUMAN	otogelin-like	634	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CACAACTTCACGCAAATGCGT	0.413													C|||	1	0.000199681	0.0	0.0	5008	,	,		15144	0.0		0.0	False		,,,				2504	0.001															0													137	138	138					12																	80655788		1932	4131	6063	SO:0001819	synonymous_variant	283310			AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"chromosome 12 open reading frame 64"	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.1902C>T	12.37:g.80655788C>T			F8W0C3|Q495U8|Q8N8G5|Q8NC28	Silent	SNP	ENST00000547103.1	37																																																																																					0.413	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591		T	80655788	C	T	80655788	2	4	742	1	0	0	0	0	0	0	0	1	1709	535	19	1		1	C12orf64	12	80655788	Silent	SNP	C	TCGA-KN-8436-01A-11D-2310-10	27489858	80655788	53196107	89	43400											
ACSS3	79611	broad.mit.edu;mdanderson.org	37	12	81503375	81503375	+	Silent	SNP	C	C	T			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr12:81503375C>T	ENST00000548058.1	+	2	1258	c.348C>T	c.(346-348)gcC>gcT	p.A116A	ACSS3_ENST00000261206.3_Silent_p.A115A|RP11-543H12.1_ENST00000547123.1_RNA			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	116						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						GTTACAATGCCGTTGATCGTC	0.328																																																0													107	105	105					12																	81503375		2203	4299	6502	SO:0001819	synonymous_variant	79611				CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"Acyl-CoA synthetase family"	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.348C>T	12.37:g.81503375C>T			Q8NC66	Silent	SNP	ENST00000548058.1	37	CCDS9022.1																																																																																				0.328	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407794.1	NM_024560		T	81503375	C	T	81503375	2	4	742	1	0	0	0	0	0	0	0	1	190	639	23	1		1	ACSS3	12	81503375	Silent	SNP	C	TCGA-KN-8436-01A-11D-2310-10	847587	81503375	52348520	90	43401											
HVCN1	84329	broad.mit.edu	37	12	111099110	111099112	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	CTC	CTC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr12:111099110_111099112delCTC	ENST00000356742.5	-	3	916_918	c.163_165delGAG	c.(163-165)gagdel	p.E55del	HVCN1_ENST00000548312.1_In_Frame_Del_p.E55del|HVCN1_ENST00000242607.8_In_Frame_Del_p.E55del|HVCN1_ENST00000439744.2_In_Frame_Del_p.E35del			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	55	Poly-Glu.				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						GTGGTGGCTGctcctcctcctcc	0.606																																																0																																										SO:0001651	inframe_deletion	84329			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.163_165delGAG	12.37:g.111099119_111099121delCTC	ENSP00000349181:p.Glu55del		A8MQ37|B4DEB3|F8WCH5|Q6UW11|Q96IS5	In_Frame_Del	DEL	ENST00000356742.5	37	CCDS31900.1																																																																																				0.606	HVCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404653.1	NM_032369		-	111099112	CTC	-	111099110	7	5	742	1	0	1	0	1	0	0	0	0	7464	796	28	0	676	0	HVCN1	12	111099110	In_Frame_Del	DEL	CTC	TCGA-KN-8436-01A-11D-2310-10	29595735	111099110	22752785	91	43402											
CCDC64	92558	mdanderson.org	37	12	120530940	120530940	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr12:120530940T>C	ENST00000397558.2	+	9	1697	c.1697T>C	c.(1696-1698)cTc>cCc	p.L566P	CCDC64_ENST00000546857.1_3'UTR|CCDC64_ENST00000446727.2_Missense_Mutation_p.L237P|CCDC64_ENST00000257583.4_Missense_Mutation_p.L263P	NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	566					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)					GGCAAACGACTCTTCTCATTC	0.612																																																0													27	32	30					12																	120530940		2008	4157	6165	SO:0001583	missense	92558			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.1697T>C	12.37:g.120530940T>C	ENSP00000380690:p.Leu566Pro		A8MUC8|B4DWL0|B5MDJ0|O95000	Missense_Mutation	SNP	ENST00000397558.2	37	CCDS41845.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.199926	0.79015	.	.	ENSG00000135127	ENST00000397558;ENST00000446727;ENST00000548673;ENST00000257583	T;T	0.62364	0.61;0.03	4.9	4.9	0.64082	.	1.075700	0.07390	U	0.888905	T	0.76371	0.3978	L	0.50333	1.59	0.80722	D	1	D;D;D	0.71674	0.993;0.998;0.998	P;D;D	0.69142	0.858;0.962;0.914	T	0.67887	-0.5554	10	0.72032	D	0.01	-0.4316	14.6842	0.69037	0.0:0.0:0.0:1.0	.	263;237;566	B4DWL0;B4DNE7;Q6ZP65	.;.;BICR1_HUMAN	P	566;237;284;263	ENSP00000380690:L566P;ENSP00000399658:L237P	ENSP00000257583:L263P	L	+	2	0	CCDC64	119015323	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.852000	0.69488	2.054000	0.61138	0.459000	0.35465	CTC		0.612	CCDC64-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403390.2	NM_207311		C	120530940	T	C	120530940	3	2	742	1	0	0	0	0	1	0	0	0	2837	1551	54	3	1731	3	CCDC64	12	120530940	Missense_Mutation	SNP	T	TCGA-KN-8436-01A-11D-2310-10	9431830	120530940	13320955	92	43403											
ZMYM2	7750	mdanderson.org	37	13	20579236	20579236	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr13:20579236A>G	ENST00000382874.2	+	6	1346	c.1156A>G	c.(1156-1158)Acc>Gcc	p.T386A	ZMYM2_ENST00000382869.3_Missense_Mutation_p.T386A|ZMYM2_ENST00000382881.3_Missense_Mutation_p.T299A|ZMYM2_ENST00000382883.3_5'Flank|ZMYM2_ENST00000382871.2_Missense_Mutation_p.T386A	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	386					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)		AATGAAAGGAACCATTGTTGC	0.313																																																0													89	87	88					13																	20579236		1813	4065	5878	SO:0001583	missense	7750			AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"Zinc fingers, MYM type"	12989	protein-coding gene	gene with protein product		602221	"zinc finger protein 198"	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.1156A>G	13.37:g.20579236A>G	ENSP00000372327:p.Thr386Ala		A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Missense_Mutation	SNP	ENST00000382874.2	37	CCDS45016.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.030264	0.75504	.	.	ENSG00000121741	ENST00000382869;ENST00000456228;ENST00000382881;ENST00000382874;ENST00000382871	T;T;T;T	0.18338	2.22;2.23;2.22;2.22	5.15	5.15	0.70609	TRASH (1);Zinc finger, MYM-type (1);	0.000000	0.85682	D	0.000000	T	0.22820	0.0551	L	0.34521	1.04	0.80722	D	1	P;B	0.41498	0.752;0.423	P;B	0.51866	0.682;0.076	T	0.03231	-1.1058	10	0.17832	T	0.49	6.0766	14.9966	0.71436	1.0:0.0:0.0:0.0	.	386;299	Q9UBW7;Q9UBW7-2	ZMYM2_HUMAN;.	A	386;386;299;386;386	ENSP00000372322:T386A;ENSP00000372334:T299A;ENSP00000372327:T386A;ENSP00000372324:T386A	ENSP00000372322:T386A	T	+	1	0	ZMYM2	19477236	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.850000	0.92190	1.928000	0.55862	0.482000	0.46254	ACC		0.313	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044051.2	NM_003453		G	20579236	A	G	20579236	3	3	742	1	0	0	0	0	1	0	0	0	17705	43	2	3	1166	3	ZMYM2	13	20579236	Missense_Mutation	SNP	A	TCGA-KN-8436-01A-11D-2310-10		20579236	94590642	93	43404											
PABPC3	5042	mdanderson.org	37	13	25671925	25671925	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr13:25671925T>C	ENST00000281589.3	+	1	1626	c.1589T>C	c.(1588-1590)cTt>cCt	p.L530P		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	530					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)		ATGCAACAGCTTGCTGTTCAT	0.498																																																0													95	87	90					13																	25671925		2203	4300	6503	SO:0001583	missense	5042			AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"RNA binding motif (RRM) containing"	8556	protein-coding gene	gene with protein product	"testis PABP"	604680	"poly(A)-binding protein, cytoplasmic 3"	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1589T>C	13.37:g.25671925T>C	ENSP00000281589:p.Leu530Pro		Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.288930	0.00248	.	.	ENSG00000151846	ENST00000281589	T	0.38077	1.16	0.875	0.875	0.19130	Polyadenylate-binding protein/Hyperplastic disc protein (1);	0.135210	0.32190	N	0.006446	T	0.05181	0.0138	N	0.00095	-2.16	0.31136	N	0.707216	B	0.02656	0.0	B	0.01281	0.0	T	0.37220	-0.9715	10	0.02654	T	1	.	5.2647	0.15593	0.0:0.7663:0.0:0.2337	.	530	Q9H361	PABP3_HUMAN	P	530	ENSP00000281589:L530P	ENSP00000281589:L530P	L	+	2	0	PABPC3	24569925	1.000000	0.71417	0.979000	0.43373	0.086000	0.17979	2.056000	0.41355	-0.049000	0.13379	-0.642000	0.03964	CTT		0.498	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		C	25671925	T	C	25671925	3	2	742	1	0	0	0	0	1	0	0	0	11367	1609	56	3	1591	3	PABPC3	13	25671925	Missense_Mutation	SNP	T	TCGA-KN-8436-01A-11D-2310-10	5092689	25671925	89497953	94	43405											
ALG11	440138	mdanderson.org;bcgsc.ca	37	13	52586578	52586578	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr13:52586578G>T	ENST00000521508.1	+	1	29	c.24G>T	c.(22-24)tgG>tgT	p.W8C	ALG11_ENST00000523764.1_Missense_Mutation_p.W8C|ATP7B_ENST00000418097.2_5'Flank|ATP7B_ENST00000400366.3_5'Flank|ATP7B_ENST00000242839.4_5'Flank|ATP7B_ENST00000400370.3_5'Flank|ATP7B_ENST00000344297.5_5'Flank|ATP7B_ENST00000448424.2_5'Flank	NM_001004127.2	NP_001004127.2	Q2TAA5	ALG11_HUMAN	ALG11, alpha-1,2-mannosyltransferase	8					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 (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GDP-Man:Man3GlcNAc2-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0004377)			endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13		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;2.44e-08)		AAAGGAGCTGGTGCCTGTGCA	0.562																																																0													88	82	84					13																	52586578		2203	4300	6503	SO:0001583	missense	440138			AK025456	CCDS31977.1	13q14.3	2013-02-22	2013-02-22		ENSG00000253710	ENSG00000253710	2.4.1.131	"Glycosyltransferase group 1 domain containing"	32456	protein-coding gene	gene with protein product	"GDP-Man:Man(3)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"	613666	"asparagine-linked glycosylation 11 homolog (S. cerevisiae, alpha-1,2-mannosyltransferase)", "asparagine-linked glycosylation 11, alpha-1,2-mannosyltransferase homolog (yeast)"			20080937	Standard	NM_001004127		Approved	KIAA0266		Q2TAA5	OTTHUMG00000016959	ENST00000521508.1:c.24G>T	13.37:g.52586578G>T	ENSP00000430236:p.Trp8Cys		A5PLP3|B4DKW9|Q5TAN9|Q6DKI6|Q96FI7	Missense_Mutation	SNP	ENST00000521508.1	37	CCDS31977.1	.	.	.	.	.	.	.	.	.	.	G	6.786	0.513952	0.12944	.	.	ENSG00000253710	ENST00000523764;ENST00000521508	T;T	0.76316	0.67;-1.01	5.1	5.1	0.69264	.	0.645519	0.13472	U	0.385360	T	0.73969	0.3655	L	0.44542	1.39	0.41399	D	0.987666	P	0.51653	0.947	B	0.43360	0.417	T	0.76849	-0.2807	10	0.72032	D	0.01	.	14.2046	0.65725	0.0:0.0:1.0:0.0	.	8	Q2TAA5	ALG11_HUMAN	C	8	ENSP00000429497:W8C;ENSP00000430236:W8C	ENSP00000430236:W8C	W	+	3	0	ALG11	51484579	0.967000	0.33354	0.839000	0.33178	0.006000	0.05464	2.613000	0.46351	2.818000	0.97014	0.591000	0.81541	TGG		0.562	ALG11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045050.1	NM_001004127		T	52586578	G	T	52586578	3	4	742	1	0	0	0	0	1	0	0	0	513	1270	44	4	26	4	ALG11	13	52586578	Missense_Mutation	SNP	G	TCGA-KN-8436-01A-11D-2310-10	26914653	52586578	62583300	95	43406											
TGM1	7051	mdanderson.org	37	14	24730943	24730943	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr14:24730943T>C	ENST00000206765.6	-	3	589	c.466A>G	c.(466-468)Acc>Gcc	p.T156A	TGM1_ENST00000544573.1_Intron	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	156					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|organ morphogenesis (GO:0009887)|peptide cross-linking (GO:0018149)	cell-cell adherens junction (GO:0005913)|cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|intrinsic component of membrane (GO:0031224)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	GATTCATAGGTCCGGGACAGG	0.587																																																0													130	115	120					14																	24730943		2203	4300	6503	SO:0001583	missense	7051			D90287	CCDS9622.1	14q11.2	2013-05-02	2013-05-02		ENSG00000092295	ENSG00000092295	2.3.2.13	"Transglutaminases"	11777	protein-coding gene	gene with protein product	"K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase"	190195	"transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)"	ICR2		11390390	Standard	NM_000359		Approved	TGASE, TGK, LI, LI1	uc001wod.3	P22735	OTTHUMG00000029329	ENST00000206765.6:c.466A>G	14.37:g.24730943T>C	ENSP00000206765:p.Thr156Ala		B4DWR7|Q197M4	Missense_Mutation	SNP	ENST00000206765.6	37	CCDS9622.1	.	.	.	.	.	.	.	.	.	.	T	10.20	1.285567	0.23478	.	.	ENSG00000092295	ENST00000206765	D	0.85484	-1.99	5.09	-0.61	0.11604	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	0.496526	0.22150	N	0.063938	T	0.54581	0.1867	N	0.00661	-1.28	0.48185	D	0.999601	B	0.02656	0.0	B	0.01281	0.0	T	0.20571	-1.0271	10	0.33940	T	0.23	-0.5356	6.6344	0.22875	0.0767:0.467:0.3411:0.1152	.	156	P22735	TGM1_HUMAN	A	156	ENSP00000206765:T156A	ENSP00000206765:T156A	T	-	1	0	TGM1	23800783	0.944000	0.32072	0.008000	0.14137	0.592000	0.36648	1.180000	0.32005	-0.465000	0.06953	-0.648000	0.03929	ACC		0.587	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073160.6	NM_000359		C	24730943	T	C	24730943	3	2	742	1	0	0	0	0	1	0	0	0	15834	1667	58	3	2039	3	TGM1	14	24730943	Missense_Mutation	SNP	T	TCGA-KN-8436-01A-11D-2310-10		24730943	82618597	96	43407											
NIN	51199	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	14	51196406	51196406	+	Silent	SNP	C	C	T	rs145555295		TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr14:51196406C>T	ENST00000382041.3	-	29	6103	c.5913G>A	c.(5911-5913)ccG>ccA	p.P1971P	NIN_ENST00000324330.9_3'UTR|NIN_ENST00000389868.3_3'UTR|NIN_ENST00000530997.2_Silent_p.P1971P|NIN_ENST00000245441.5_Silent_p.P1971P|NIN_ENST00000382043.4_Silent_p.P1258P|NIN_ENST00000453196.1_Silent_p.P1971P	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1971					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					CATGAGGGGACGGGCTAGGCG	0.597			T	PDGFRB	MPD								C|||	1	0.000199681	0.0	0.0014	5008	,	,		14363	0.0		0.0	False		,,,				2504	0.0						Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	0								C	,,,	0,4406		0,0,2203	69	58	62		3774,5913,5913,5913	-10.5	0	14	dbSNP_134	62	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NIN	NM_016350.4,NM_020921.3,NM_182944.2,NM_182946.1	,,,	0,5,6498	TT,TC,CC		0.0581,0.0,0.0384	,,,	1258/1378,1971/2134,1971/2047,1971/2091	51196406	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	51199			AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"EF-hand domain containing"	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.5913G>A	14.37:g.51196406C>T			A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Silent	SNP	ENST00000382041.3	37	CCDS32079.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	0.070	-1.205154	0.01568	0.0	5.81E-4	ENSG00000100503	ENST00000530997;ENST00000389869;ENST00000530853	.	.	.	5.23	-10.5	0.00291	.	.	.	.	.	T	0.20577	0.0495	.	.	.	0.26831	N	0.968587	.	.	.	.	.	.	T	0.08764	-1.0706	4	.	.	.	-13.8346	5.2917	0.15731	0.1504:0.4781:0.1573:0.2142	.	.	.	.	I	1462	.	.	V	-	1	0	NIN	50266156	0.000000	0.05858	0.016000	0.15963	0.049000	0.14656	-3.635000	0.00408	-3.021000	0.00269	-1.801000	0.00618	GTC		0.597	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		T	51196406	C	T	51196406	2	4	742	1	0	0	0	0	0	0	0	1	10419	523	19	1		1	NIN	14	51196406	Silent	SNP	C	TCGA-KN-8436-01A-11D-2310-10	26465463	51196406	56153134	97	43408											
TECPR2	9895	mdanderson.org	37	14	102881076	102881076	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr14:102881076T>C	ENST00000359520.7	+	5	810	c.584T>C	c.(583-585)cTc>cCc	p.L195P	TECPR2_ENST00000558678.1_Missense_Mutation_p.L195P|TECPR2_ENST00000561228.1_3'UTR	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	195					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						AGAAGTCTGCTCTTTTACACT	0.458																																																0													150	141	144					14																	102881076		2203	4300	6503	SO:0001583	missense	9895			AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"KIAA0329"	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.584T>C	14.37:g.102881076T>C	ENSP00000352510:p.Leu195Pro		A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Missense_Mutation	SNP	ENST00000359520.7	37	CCDS32162.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.117267	0.77323	.	.	ENSG00000196663	ENST00000359520;ENST00000380088	T	0.01397	4.94	4.89	4.89	0.63831	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.09423	0.0232	M	0.82823	2.61	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.997;0.991;0.999	T	0.00695	-1.1606	10	0.87932	D	0	.	14.5137	0.67804	0.0:0.0:0.0:1.0	.	195;195;195	B4DK51;A5PKY3;O15040	.;.;TCPR2_HUMAN	P	195	ENSP00000352510:L195P	ENSP00000352510:L195P	L	+	2	0	TECPR2	101950829	1.000000	0.71417	0.959000	0.39883	0.925000	0.55904	7.602000	0.82796	1.825000	0.53177	0.459000	0.35465	CTC		0.458	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2	NM_014844		C	102881076	T	C	102881076	3	2	742	1	0	0	0	0	1	0	0	0	15749	1551	54	3	598	3	TECPR2	14	102881076	Missense_Mutation	SNP	T	TCGA-KN-8436-01A-11D-2310-10	51684670	102881076	4468464	98	43409											
MYO5C	55930	mdanderson.org	37	15	52510728	52510728	+	Silent	SNP	A	A	G			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr15:52510728A>G	ENST00000261839.7	-	32	4103	c.3942T>C	c.(3940-3942)acT>acC	p.T1314T		NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1314						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)		TGTTTTCCAAAGTGAGCCGGG	0.443																																																0													78	74	75					15																	52510728		1902	4118	6020	SO:0001819	synonymous_variant	55930			AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"Myosins / Myosin superfamily : Class V"	7604	protein-coding gene	gene with protein product	"myosin 5C"	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.3942T>C	15.37:g.52510728A>G			Q6P1W8	Silent	SNP	ENST00000261839.7	37	CCDS42036.1																																																																																				0.443	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728		G	52510728	A	G	52510728	2	3	742	1	0	0	0	0	0	0	0	1	10082	59	3	3		3	MYO5C	15	52510728	Silent	SNP	A	TCGA-KN-8436-01A-11D-2310-10		52510728	50020664	99	43410											
UNC13C	440279	broad.mit.edu	37	15	54527276	54527276	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr15:54527276delA	ENST00000260323.11	+	4	3120	c.3120delA	c.(3118-3120)agafs	p.R1040fs	UNC13C_ENST00000545554.1_Frame_Shift_Del_p.R1040fs|UNC13C_ENST00000537900.1_Frame_Shift_Del_p.R1040fs	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1040					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)		ATCTTCGCAGAAAAAAAACTT	0.368																																																0													142	133	136					15																	54527276		1849	4096	5945	SO:0001589	frameshift_variant	440279			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.3120delA	15.37:g.54527276delA	ENSP00000260323:p.Arg1040fs		Q0P613|Q8ND48|Q96NP3	Frame_Shift_Del	DEL	ENST00000260323.11	37	CCDS45264.1																																																																																				0.368	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		-	54527276	A	-	54527276	7	5	742	1	0	1	0	1	0	0	0	0	16991	243	9	0	3134	0	UNC13C	15	54527276	Frame_Shift_Del	DEL	A	TCGA-KN-8436-01A-11D-2310-10	2016548	54527276	48004116	100	43411											
AQP9	366	mdanderson.org	37	15	58458901	58458901	+	Silent	SNP	T	T	C			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr15:58458901T>C	ENST00000219919.4	+	2	511	c.141T>C	c.(139-141)gcT>gcC	p.A47A	AQP9_ENST00000558772.1_5'UTR|AQP9_ENST00000536493.1_Silent_p.A47A|ALDH1A2_ENST00000558231.1_Intron	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9	47					amine transport (GO:0015837)|canalicular bile acid transport (GO:0015722)|carboxylic acid transport (GO:0046942)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|glycerol transport (GO:0015793)|immune response (GO:0006955)|metabolic process (GO:0008152)|polyol transport (GO:0015791)|purine nucleobase transport (GO:0006863)|pyrimidine nucleobase transport (GO:0015855)|pyrimidine-containing compound transmembrane transport (GO:0072531)|response to mercury ion (GO:0046689)|response to organic substance (GO:0010033)|response to osmotic stress (GO:0006970)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water homeostasis (GO:0030104)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carboxylic acid transmembrane transporter activity (GO:0046943)|glycerol channel activity (GO:0015254)|polyol transmembrane transporter activity (GO:0015166)|porin activity (GO:0015288)|purine nucleobase transmembrane transporter activity (GO:0005345)|pyrimidine nucleobase transmembrane transporter activity (GO:0005350)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		TTGCCCAAGCTATTCTCAGTC	0.473																																																0													254	226	236					15																	58458901		2192	4292	6484	SO:0001819	synonymous_variant	366			AF016495	CCDS10165.1	15q	2005-09-20			ENSG00000103569	ENSG00000103569		"Ion channels / Aquaporins"	643	protein-coding gene	gene with protein product		602914					Standard	NM_020980		Approved	SSC1, HsT17287	uc002aez.2	O43315	OTTHUMG00000132631	ENST00000219919.4:c.141T>C	15.37:g.58458901T>C			Q9NP32	Silent	SNP	ENST00000219919.4	37	CCDS10165.1																																																																																				0.473	AQP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255878.2	NM_020980		C	58458901	T	C	58458901	2	2	742	1	0	0	0	0	0	0	0	1	833	1509	53	3		3	AQP9	15	58458901	Silent	SNP	T	TCGA-KN-8436-01A-11D-2310-10	3931625	58458901	44072491	101	43412											
ERCC4	2072	broad.mit.edu	37	16	14041910	14041911	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr16:14041910_14041911insA	ENST00000311895.7	+	11	2466_2467	c.2457_2458insA	c.(2458-2460)aagfs	p.K820fs		NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4	820					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						TGAAACAAAGCAAGCCACAGCC	0.515			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	"excision repair cross-complementing rodent repair deficiency, complementation group 4"		E	0																																										SO:0001589	frameshift_variant	2072	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	L76568	CCDS32390.1	16p13.3	2014-09-17	2014-03-07		ENSG00000175595	ENSG00000175595			3436	protein-coding gene	gene with protein product	"xeroderma pigmentosum, complementation group F"	133520	"excision repair cross-complementing rodent repair deficiency, complementation group 4"	XPF		9579555, 8887684	Standard	NM_005236		Approved	RAD1, FANCQ	uc002dce.2	Q92889	OTTHUMG00000048194	ENST00000311895.7:c.2459dupA	16.37:g.14041912_14041912dupA	ENSP00000310520:p.Lys820fs		A5PKV6|A8K111|O00140|Q8TD83	Frame_Shift_Ins	INS	ENST00000311895.7	37	CCDS32390.1																																																																																				0.515	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109634.2	NM_005236		A	14041911	-	A	14041910	7	5	742	1	0	1	1	0	0	0	0	0	5217	709	25	0	2499	0	ERCC4	16	14041910	Frame_Shift_Ins	INS	-	TCGA-KN-8436-01A-11D-2310-10		14041910	76312843	102	43413											
ABCC6	368	broad.mit.edu	37	16	16278826	16278827	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr16:16278826_16278827insG	ENST00000205557.7	-	15	1961_1962	c.1932_1933insC	c.(1930-1935)ccctgcfs	p.C645fs	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	645	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)	CTGTGGAGGCAGGGAGGGCTTT	0.579																																																0																																										SO:0001589	frameshift_variant	368			AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"ATP binding cassette transporters / subfamily C"	57	protein-coding gene	gene with protein product		603234	"pseudoxanthoma elasticum"	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.1933dupC	16.37:g.16278829_16278829dupG	ENSP00000205557:p.Cys645fs		A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Frame_Shift_Ins	INS	ENST00000205557.7	37	CCDS10568.1																																																																																				0.579	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2			G	16278827	-	G	16278826	7	5	742	1	0	1	1	0	0	0	0	0	57	188	7	0	2646	0	ABCC6	16	16278826	Frame_Shift_Ins	INS	-	TCGA-KN-8436-01A-11D-2310-10	2236916	16278826	74075927	103	43414											
HSD11B2	3291	broad.mit.edu;mdanderson.org;bcgsc.ca	37	16	67470735	67470735	+	Missense_Mutation	SNP	C	C	A			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr16:67470735C>A	ENST00000326152.5	+	5	1179	c.1047C>A	c.(1045-1047)ttC>ttA	p.F349L	ATP6V0D1_ENST00000567694.1_5'Flank	NM_000196.3	NP_000187.3	P80365	DHI2_HUMAN	hydroxysteroid (11-beta) dehydrogenase 2	349					female pregnancy (GO:0007565)|glucocorticoid biosynthetic process (GO:0006704)|regulation of blood volume by renal aldosterone (GO:0002017)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)	endoplasmic reticulum (GO:0005783)	11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity (GO:0003845)|NAD binding (GO:0051287)|steroid binding (GO:0005496)			breast(1)|endometrium(1)|liver(2)|lung(3)|upper_aerodigestive_tract(1)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0401)|Epithelial(162;0.0891)		TCATGTACTTCATCCACTACT	0.647																																																0													69	76	73					16																	67470735		2198	4299	6497	SO:0001583	missense	3291			U14631	CCDS10837.1	16q22	2011-09-14			ENSG00000176387	ENSG00000176387	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	5209	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 9C, member 3"	614232				7859916, 8611140, 19027726	Standard	NM_000196		Approved	SDR9C3	uc002etd.3	P80365	OTTHUMG00000137507	ENST00000326152.5:c.1047C>A	16.37:g.67470735C>A	ENSP00000316786:p.Phe349Leu		A7LB28|C5HTY7|Q13194|Q6P2G9|Q8N439|Q96QN8|Q9UC50|Q9UC51|Q9UCW5|Q9UCW6|Q9UCW7|Q9UCW8	Missense_Mutation	SNP	ENST00000326152.5	37	CCDS10837.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.103821	0.56291	.	.	ENSG00000176387	ENST00000326152	D	0.89270	-2.49	4.78	3.82	0.43975	NAD(P)-binding domain (1);	0.049609	0.85682	D	0.000000	T	0.78272	0.4257	N	0.25992	0.78	0.53688	D	0.999975	B	0.28378	0.209	B	0.25987	0.065	T	0.70506	-0.4853	10	0.02654	T	1	.	11.7105	0.51623	0.0:0.9121:0.0:0.0879	.	349	P80365	DHI2_HUMAN	L	349	ENSP00000316786:F349L	ENSP00000316786:F349L	F	+	3	2	HSD11B2	66028236	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.517000	0.45529	0.995000	0.38917	0.563000	0.77884	TTC		0.647	HSD11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268826.3	NM_000196		A	67470735	C	A	67470735	3	1	742	1	0	0	0	0	1	0	0	0	7379	825	29	4	1065	4	HSD11B2	16	67470735	Missense_Mutation	SNP	C	TCGA-KN-8436-01A-11D-2310-10	51191909	67470735	22884018	104	43415											
AMAC1L3	643664	mdanderson.org	37	17	7385751	7385751	+	Missense_Mutation	SNP	G	G	A	rs200897540		TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr17:7385751G>A	ENST00000412468.2	+	2	563	c.448G>A	c.(448-450)Gag>Aag	p.E150K	ZBTB4_ENST00000380599.4_5'Flank|POLR2A_ENST00000322644.6_5'Flank|POLR2A_ENST00000572844.1_5'Flank|ZBTB4_ENST00000311403.4_Intron	NM_001102614.1	NP_001096084.1	P0C7Q6	S35G6_HUMAN	solute carrier family 35, member G6	150	EamA 1.					integral component of membrane (GO:0016021)											CCTCTGCCTTGAGAGCCAGGG	0.592																																																0													188	178	182					17																	7385751		2203	4300	6503	SO:0001583	missense	643664				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.448G>A	17.37:g.7385751G>A	ENSP00000396523:p.Glu150Lys			Missense_Mutation	SNP	ENST00000412468.2	37	CCDS45603.1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.420492	0.42918	.	.	ENSG00000181222	ENST00000412468	T	0.49432	0.78	4.33	3.36	0.38483	.	.	.	.	.	T	0.32941	0.0846	N	0.24115	0.695	0.29805	N	0.832132	B	0.10296	0.003	B	0.13407	0.009	T	0.23904	-1.0175	9	0.37606	T	0.19	-2.7213	9.5491	0.39299	0.1018:0.0:0.8982:0.0	.	150	P0C7Q6	S35G6_HUMAN	K	150	ENSP00000396523:E150K	ENSP00000396523:E150K	E	+	1	0	SLC35G6	7326475	1.000000	0.71417	0.998000	0.56505	0.940000	0.58332	2.253000	0.43205	0.961000	0.38030	0.563000	0.77884	GAG		0.592	SLC35G6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001102614		A	7385751	G	A	7385751	3	1	742	1	0	0	0	0	1	0	0	0	561	1291	45	2	454	2	AMAC1L3	17	7385751	Missense_Mutation	SNP	G	TCGA-KN-8436-01A-11D-2310-10		7385751	73809459	105	43416	421	2									
AMAC1L3	643664	mdanderson.org	37	17	7385761	7385761	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr17:7385761G>T	ENST00000412468.2	+	2	573	c.458G>T	c.(457-459)gGt>gTt	p.G153V	ZBTB4_ENST00000380599.4_5'Flank|POLR2A_ENST00000322644.6_5'Flank|POLR2A_ENST00000572844.1_5'Flank|ZBTB4_ENST00000311403.4_Intron	NM_001102614.1	NP_001096084.1	P0C7Q6	S35G6_HUMAN	solute carrier family 35, member G6	153	EamA 1.					integral component of membrane (GO:0016021)											GAGAGCCAGGGTCTCAGTGGC	0.597																																																0													189	180	183					17																	7385761		2203	4300	6503	SO:0001583	missense	643664				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.458G>T	17.37:g.7385761G>T	ENSP00000396523:p.Gly153Val			Missense_Mutation	SNP	ENST00000412468.2	37	CCDS45603.1	.	.	.	.	.	.	.	.	.	.	G	11.25	1.582392	0.28180	.	.	ENSG00000181222	ENST00000412468	T	0.50001	0.76	3.93	2.94	0.34122	.	.	.	.	.	T	0.31358	0.0794	N	0.24115	0.695	0.50467	D	0.999875	B	0.06786	0.001	B	0.08055	0.003	T	0.07328	-1.0778	9	0.33141	T	0.24	0.2674	9.8084	0.40808	0.1041:0.0:0.8959:0.0	.	153	P0C7Q6	S35G6_HUMAN	V	153	ENSP00000396523:G153V	ENSP00000396523:G153V	G	+	2	0	SLC35G6	7326485	0.948000	0.32251	1.000000	0.80357	0.984000	0.73092	1.064000	0.30579	0.949000	0.37715	0.563000	0.77884	GGT		0.597	SLC35G6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001102614		T	7385761	G	T	7385761	3	4	742	1	0	0	0	0	1	0	0	0	561	1261	44	4	464	4	AMAC1L3	17	7385761	Missense_Mutation	SNP	G	TCGA-KN-8436-01A-11D-2310-10	10	7385761	73809449	106	43417	421	2									
TP53	7157	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	17	7574015	7574015	+	Missense_Mutation	SNP	A	A	T			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr17:7574015A>T	ENST00000269305.4	-	10	1201	c.1012T>A	c.(1012-1014)Ttc>Atc	p.F338I	TP53_ENST00000359597.4_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.F338I|TP53_ENST00000455263.2_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	338	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		F -> I (in a sporadic cancer; somatic mutation).|F -> 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.F338fs*9(2)|p.F338I(1)|p.I332fs*5(1)|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)	AACATCTCGAAGCGCTCACGC	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)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	13	Whole gene deletion(8)|Insertion - Frameshift(2)|Substitution - Missense(1)|Unknown(1)|Deletion - Frameshift(1)	bone(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|upper_aerodigestive_tract(1)|large_intestine(1)|stomach(1)|breast(1)|ovary(1)											58	45	50					17																	7574015		2203	4300	6503	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.1012T>A	17.37:g.7574015A>T	ENSP00000269305:p.Phe338Ile		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	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	19.99	3.929207	0.73327	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	D;D	0.94687	-3.49;-3.49	5.43	5.43	0.79202	p53, tetramerisation domain (3);	0.327214	0.33144	N	0.005234	D	0.96297	0.8792	M	0.77820	2.39	0.45390	D	0.998373	D	0.53885	0.963	P	0.57776	0.827	D	0.96673	0.9498	10	0.87932	D	0	-11.118	13.43	0.61049	1.0:0.0:0.0:0.0	.	338	P04637	P53_HUMAN	I	338;338;327	ENSP00000269305:F338I;ENSP00000391478:F338I	ENSP00000269305:F338I	F	-	1	0	TP53	7514740	0.934000	0.31675	0.010000	0.14722	0.295000	0.27426	7.690000	0.84178	2.061000	0.61500	0.459000	0.35465	TTC		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7574015	A	T	7574015	3	4	742	1	0	0	0	0	1	0	0	0	16386	72	3	5	177	5	TP53	17	7574015	Missense_Mutation	SNP	A	TCGA-KN-8436-01A-11D-2310-10	188254	7574015	73621195	107	43418											
DHX58	79132	bcgsc.ca	37	17	40263795	40263795	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr17:40263795T>C	ENST00000251642.3	-	3	338	c.116A>G	c.(115-117)aAg>aGg	p.K39R		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	39	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of innate immune response (GO:0045824)|negative regulation of MDA-5 signaling pathway (GO:0039534)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of type I interferon production (GO:0032481)|regulation of innate immune response (GO:0045088)|response to virus (GO:0009615)|viral process (GO:0016032)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TAGGTGCCGCTTGGCCACATA	0.597																																																0													122	111	115					17																	40263795		2203	4300	6503	SO:0001583	missense	79132			BC014949	CCDS11416.1	17q21.2	2008-02-05			ENSG00000108771	ENSG00000108771			29517	protein-coding gene	gene with protein product	"RNA helicase LGP2"	608588				11735219	Standard	NM_024119		Approved	LGP2, D11LGP2	uc002hyw.3	Q96C10	OTTHUMG00000133493	ENST00000251642.3:c.116A>G	17.37:g.40263795T>C	ENSP00000251642:p.Lys39Arg		Q9HAM6	Missense_Mutation	SNP	ENST00000251642.3	37	CCDS11416.1	.	.	.	.	.	.	.	.	.	.	T	10.92	1.485758	0.26686	.	.	ENSG00000108771	ENST00000251642;ENST00000423748;ENST00000413196;ENST00000430773	T;T;T	0.35048	1.98;1.33;1.33	4.99	3.91	0.45181	DEAD-like helicase (2);Helicase/UvrB domain (1);	0.108247	0.64402	D	0.000009	T	0.19366	0.0465	N	0.21240	0.645	0.32355	N	0.557916	B;B	0.14012	0.009;0.004	B;B	0.20955	0.032;0.014	T	0.16394	-1.0404	10	0.16896	T	0.51	-7.3343	3.4805	0.07601	0.1649:0.1754:0.0:0.6598	.	39;39	B7Z455;Q96C10	.;DHX58_HUMAN	R	39	ENSP00000251642:K39R;ENSP00000416389:K39R;ENSP00000404639:K39R	ENSP00000251642:K39R	K	-	2	0	DHX58	37517321	0.895000	0.30542	1.000000	0.80357	0.390000	0.30446	0.434000	0.21494	0.931000	0.37242	-0.624000	0.04008	AAG		0.597	DHX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257396.1	NM_024119		C	40263795	T	C	40263795	3	2	742	1	0	0	0	0	1	0	0	0	4516	1609	56	3	1968	3	DHX58	17	40263795	Missense_Mutation	SNP	T	TCGA-KN-8436-01A-11D-2310-10	32689780	40263795	40931415	108	43419											
SMCHD1	23347	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	18	2703826	2703826	+	Missense_Mutation	SNP	C	C	A			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr18:2703826C>A	ENST00000320876.6	+	13	2122	c.1784C>A	c.(1783-1785)cCc>cAc	p.P595H	SMCHD1_ENST00000261598.8_Missense_Mutation_p.P595H|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	595					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						AAGCAAGGTCCCTGGGCAACA	0.348																																																0													75	74	74					18																	2703826		1832	4101	5933	SO:0001583	missense	23347			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.1784C>A	18.37:g.2703826C>A	ENSP00000326603:p.Pro595His		O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	37	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.926320	0.34002	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.26373	1.74;1.75	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.50171	0.1600	L	0.55481	1.735	0.53005	D	0.999967	D	0.89917	1.0	D	0.87578	0.998	T	0.44283	-0.9338	10	0.87932	D	0	-4.9546	20.1086	0.97902	0.0:1.0:0.0:0.0	.	595	A6NHR9	SMHD1_HUMAN	H	595	ENSP00000326603:P595H;ENSP00000261598:P595H	ENSP00000261598:P595H	P	+	2	0	SMCHD1	2693826	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.925000	0.75829	2.756000	0.94617	0.563000	0.77884	CCC		0.348	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2			A	2703826	C	A	2703826	3	1	742	1	0	0	0	0	1	0	0	0	14794	623	22	4	1834	4	SMCHD1	18	2703826	Missense_Mutation	SNP	C	TCGA-KN-8436-01A-11D-2310-10		2703826	75373422	109	43420											
GNG7	2788	broad.mit.edu	37	19	2515020	2515020	+	Nonstop_Mutation	SNP	T	T	A			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr19:2515020T>A	ENST00000382159.3	-	5	404	c.207A>T	c.(205-207)taA>taT	p.*69Y		NM_052847.2	NP_443079.1	O60262	GBG7_HUMAN	guanine nucleotide binding protein (G protein), gamma 7	0					behavioral fear response (GO:0001662)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of adenylate cyclase activity (GO:0045761)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			central_nervous_system(2)|large_intestine(1)	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)		GAGAACACAGTTATAAAATAA	0.478																																																0													59	64	62					19																	2515020		2203	4300	6503	SO:0001578	stop_lost	2788			AB010414	CCDS12091.1	19p13.3	2010-02-17			ENSG00000176533	ENSG00000176533			4410	protein-coding gene	gene with protein product		604430				9600093	Standard	NM_052847		Approved	FLJ00058	uc002lwd.2	O60262		ENST00000382159.3:c.207A>T	19.37:g.2515020T>A			B2R496	Missense_Mutation	SNP	ENST00000382159.3	37	CCDS12091.1	.	.	.	.	.	.	.	.	.	.	T	13.46	2.243295	0.39697	.	.	ENSG00000176533	ENST00000382159	.	.	.	4.16	3.03	0.35002	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7023	0.28630	0.0:0.7966:0.0:0.2034	.	.	.	.	Y	69	.	.	X	-	3	2	GNG7	2466020	1.000000	0.71417	0.330000	0.25442	0.591000	0.36615	2.069000	0.41481	0.836000	0.34901	-0.337000	0.08149	TAA		0.478	GNG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451345.1	NM_052847		A	2515020	T	A	2515020	4	1	742	1	0	0	0	0	0	0	0	0	6533	1732	60	5	3	5	GNG7	19	2515020	Nonstop_Mutation	SNP	T	TCGA-KN-8436-01A-11D-2310-10		2515020	56613963	110	43421											
PIP5K1C	23396	mdanderson.org	37	19	3656451	3656451	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr19:3656451C>T	ENST00000335312.3	-	6	661	c.573G>A	c.(571-573)atG>atA	p.M191I	PIP5K1C_ENST00000539785.1_Missense_Mutation_p.M191I|PIP5K1C_ENST00000537021.1_Missense_Mutation_p.M191I|PIP5K1C_ENST00000589578.1_Missense_Mutation_p.M191I|PIP5K1C_ENST00000587482.1_5'UTR	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	191	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				actin cytoskeleton organization (GO:0030036)|adherens junction assembly (GO:0034333)|axon guidance (GO:0007411)|clathrin-mediated endocytosis (GO:0072583)|cytoskeletal anchoring at plasma membrane (GO:0007016)|neutrophil chemotaxis (GO:0030593)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet aggregation (GO:0070527)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle exocytosis (GO:0016079)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		CCTCCTTGTGCATGACGGTCT	0.632																																					Esophageal Squamous(135;99 1744 12852 27186 39851)											0													80	81	81					19																	3656451		2203	4300	6503	SO:0001583	missense	23396			AB011161	CCDS32872.1, CCDS56074.1, CCDS74257.1	19p13.3	2012-10-02			ENSG00000186111	ENSG00000186111			8996	protein-coding gene	gene with protein product		606102				9535851	Standard	NM_001195733		Approved	PIP5Kgamma, KIAA0589, LCCS3	uc002lyj.2	O60331	OTTHUMG00000180870	ENST00000335312.3:c.573G>A	19.37:g.3656451C>T	ENSP00000335333:p.Met191Ile		B7Z9E7|C6GIJ7|C6GIJ8|Q7LE07	Missense_Mutation	SNP	ENST00000335312.3	37	CCDS32872.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.577761	0.65878	.	.	ENSG00000186111	ENST00000335312;ENST00000539785;ENST00000537021	T;T;T	0.35236	1.32;1.32;1.32	4.22	4.22	0.49857	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.33265	0.0857	L	0.43152	1.355	0.54753	D	0.999988	B;B	0.24882	0.113;0.079	B;B	0.19391	0.025;0.017	T	0.29305	-1.0016	10	0.87932	D	0	-34.5769	15.9238	0.79597	0.0:1.0:0.0:0.0	.	191;191	O60331-3;O60331	.;PI51C_HUMAN	I	191	ENSP00000335333:M191I;ENSP00000445992:M191I;ENSP00000444779:M191I	ENSP00000335333:M191I	M	-	3	0	PIP5K1C	3607451	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	7.568000	0.82369	2.067000	0.61834	0.561000	0.74099	ATG		0.632	PIP5K1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453432.2	NM_012398		T	3656451	C	T	3656451	3	4	742	1	0	0	0	0	1	0	0	0	11943	710	25	2	1485	2	PIP5K1C	19	3656451	Missense_Mutation	SNP	C	TCGA-KN-8436-01A-11D-2310-10	1141431	3656451	55472532	111	43422											
FUT3	2525	mdanderson.org	37	19	5843822	5843822	+	Silent	SNP	T	T	C	rs199931170	byFrequency	TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr19:5843822T>C	ENST00000303225.6	-	3	1663	c.1029A>G	c.(1027-1029)aaA>aaG	p.K343K	FUT3_ENST00000458379.2_Silent_p.K343K|FUT3_ENST00000589620.1_Silent_p.K343K|FUT3_ENST00000589918.1_Silent_p.K343K|FUT3_ENST00000593144.1_5'Flank	NM_000149.3	NP_000140	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	343					cell-cell recognition (GO:0009988)|fucosylation (GO:0036065)|macromolecule glycosylation (GO:0043413)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						CCTGCTGCAGTTTCCAGCAGG	0.632																																					Esophageal Squamous(82;745 1728 24593 44831)											0													61	65	64					19																	5843822		2203	4300	6503	SO:0001819	synonymous_variant	2525				CCDS12153.1	19p13.3	2014-07-19	2006-01-12		ENSG00000171124	ENSG00000171124	2.4.1.65	"CD molecules", "Blood group antigens", "Fucosyltransferases"	4014	protein-coding gene	gene with protein product		111100	"fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group included)"	LE		1977660, 1740457	Standard	NM_000149		Approved	CD174	uc002mdk.2	P21217	OTTHUMG00000180614	ENST00000303225.6:c.1029A>G	19.37:g.5843822T>C			B5U7U9|B5U7V0|Q32NE7|Q99448|Q99449	Silent	SNP	ENST00000303225.6	37	CCDS12153.1																																																																																				0.632	FUT3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452204.1	NM_000149		C	5843822	T	C	5843822	2	2	742	1	0	0	0	0	0	0	0	1	6107	1722	60	3		3	FUT3	19	5843822	Silent	SNP	T	TCGA-KN-8436-01A-11D-2310-10	2187371	5843822	53285161	112	43423											
MUC16	94025	broad.mit.edu	37	19	9054266	9054267	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr19:9054266_9054267insG	ENST00000397910.4	-	4	31558_31559	c.31355_31356insC	c.(31354-31356)cctfs	p.P10452fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10454	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						TGGATGTCTGAGGGCCTTTGAC	0.47																																																0																																										SO:0001589	frameshift_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.31356dupC	19.37:g.9054269_9054269dupG	ENSP00000381008:p.Pro10452fs		Q6ZQW5|Q96RK2	Frame_Shift_Ins	INS	ENST00000397910.4	37	CCDS54212.1																																																																																				0.47	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		G	9054267	-	G	9054266	7	5	742	1	0	1	1	0	0	0	0	0	9975	291	11	0	12491	0	MUC16	19	9054266	Frame_Shift_Ins	INS	-	TCGA-KN-8436-01A-11D-2310-10	3210444	9054266	50074717	113	43424											
FBXW9	84261	ucsc.edu	37	19	12807079	12807079	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr19:12807079A>G	ENST00000380339.3	-	1	353	c.317T>C	c.(316-318)gTg>gCg	p.V106A	FBXW9_ENST00000544494.1_5'UTR|FBXW9_ENST00000393261.3_Missense_Mutation_p.V106A|FBXW9_ENST00000587955.1_Missense_Mutation_p.V106A			Q5XUX1	FBXW9_HUMAN	F-box and WD repeat domain containing 9	106	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)					cervix(1)|lung(4)|ovary(1)|prostate(1)	7						CGCGTGGCACACCCGCGACAG	0.697																																																0													10	14	13					19																	12807079		1984	4113	6097	SO:0001583	missense	84261			BC004290	CCDS12278.2	19p13.2	2013-01-09	2007-02-08		ENSG00000132004	ENSG00000132004		"F-boxes / WD-40 domains", "WD repeat domain containing"	28136	protein-coding gene	gene with protein product		609074	"F-box and WD-40 domain protein 9"			12477932	Standard	NM_032301		Approved	MGC10870, Fbw9	uc002mum.1	Q5XUX1	OTTHUMG00000150152	ENST00000380339.3:c.317T>C	19.37:g.12807079A>G	ENSP00000369696:p.Val106Ala		B3KVP7|Q9BT89	Missense_Mutation	SNP	ENST00000380339.3	37		.	.	.	.	.	.	.	.	.	.	A	33	5.231393	0.95207	.	.	ENSG00000132004	ENST00000393261;ENST00000380339	T;T	0.72394	-0.65;-0.65	5.24	5.24	0.73138	.	0.000000	0.64402	D	0.000010	T	0.81044	0.4741	M	0.68952	2.095	0.80722	D	1	D;D	0.69078	0.997;0.994	D;P	0.69654	0.965;0.888	T	0.82388	-0.0482	10	0.56958	D	0.05	-28.5893	12.6408	0.56709	1.0:0.0:0.0:0.0	.	106;106	Q5XUX1-2;Q5XUX1-3	.;.	A	106	ENSP00000376945:V106A;ENSP00000369696:V106A	ENSP00000369696:V106A	V	-	2	0	FBXW9	12668079	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	5.956000	0.70315	1.984000	0.57885	0.459000	0.35465	GTG		0.697	FBXW9-201	KNOWN	basic	protein_coding	protein_coding		NM_032301		G	12807079	A	G	12807079	3	3	742	1	0	0	0	0	1	0	0	0	5773	159	6	3	1099	3	FBXW9	19	12807079	Missense_Mutation	SNP	A	TCGA-KN-8436-01A-11D-2310-10	3752813	12807079	46321904	114	43425											
RHPN2	85415	mdanderson.org	37	19	33493830	33493830	+	Silent	SNP	G	G	A	rs74453945	byFrequency	TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr19:33493830G>A	ENST00000254260.3	-	8	872	c.837C>T	c.(835-837)ctC>ctT	p.L279L	RHPN2_ENST00000400226.4_Silent_p.L128L	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	279	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					TCATTTTGACGAGCACGCTGA	0.463																																																0													55	50	52					19																	33493830		2203	4300	6503	SO:0001819	synonymous_variant	85415			AF268032	CCDS12427.1	19q13.12	2008-02-05				ENSG00000131941			19974	protein-coding gene	gene with protein product						12221077	Standard	NM_033103		Approved		uc002nuf.3	Q8IUC4		ENST00000254260.3:c.837C>T	19.37:g.33493830G>A			B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Silent	SNP	ENST00000254260.3	37	CCDS12427.1																																																																																				0.463	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450828.2	NM_033103		A	33493830	G	A	33493830	2	1	742	1	0	0	0	0	0	0	0	1	13357	1045	37	1		1	RHPN2	19	33493830	Silent	SNP	G	TCGA-KN-8436-01A-11D-2310-10	20686751	33493830	25635153	115	43426											
TMEM147	10430	ucsc.edu;bcgsc.ca	37	19	36036858	36036858	+	Splice_Site	SNP	A	A	G			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr19:36036858A>G	ENST00000222284.5	+	2	291	c.146A>G	c.(145-147)aAg>aGg	p.K49R	AD000090.2_ENST00000588286.1_RNA|AD000090.2_ENST00000590717.1_RNA|TMEM147_ENST00000392205.1_Splice_Site_p.K49R|AD000090.2_ENST00000589137.1_RNA|AD000090.2_ENST00000590125.1_RNA|AD000090.2_ENST00000444728.1_RNA|TMEM147_ENST00000392204.2_5'UTR	NM_032635.3	NP_116024.1	Q9BVK8	TM147_HUMAN	transmembrane protein 147	49						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6	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)			CAACTCTGCAAGGTGAGGGCC	0.682																																																0													47	41	43					19																	36036858		2203	4300	6503	SO:0001630	splice_region_variant	10430			BC001118	CCDS12466.1, CCDS56091.1	19q13.12	2010-08-13			ENSG00000105677	ENSG00000105677			30414	protein-coding gene	gene with protein product		613585				20538592	Standard	NM_032635		Approved	NIFIE14, MGC1936	uc002oaj.2	Q9BVK8	OTTHUMG00000048105	ENST00000222284.5:c.147+1A>G	19.37:g.36036858A>G			A8MWW0|O75790	Missense_Mutation	SNP	ENST00000222284.5	37	CCDS12466.1	.	.	.	.	.	.	.	.	.	.	A	15.36	2.809674	0.50421	.	.	ENSG00000105677	ENST00000222284;ENST00000392205	T;T	0.64085	-0.08;-0.08	4.98	2.88	0.33553	.	0.109198	0.64402	D	0.000009	T	0.71787	0.3381	M	0.83692	2.655	0.58432	D	0.999998	D	0.61697	0.99	P	0.58266	0.836	T	0.69347	-0.5169	10	0.54805	T	0.06	.	5.0146	0.14330	0.6976:0.206:0.0964:0.0	.	49	Q9BVK8	TM147_HUMAN	R	49	ENSP00000222284:K49R;ENSP00000376041:K49R	ENSP00000222284:K49R	K	+	2	0	TMEM147	40728698	1.000000	0.71417	0.999000	0.59377	0.000000	0.00434	7.959000	0.87885	0.385000	0.24970	-1.046000	0.02355	AAG		0.682	TMEM147-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109469.2	NM_032635	Missense_Mutation	G	36036858	A	G	36036858	5	3	742	1	0	0	0	0	0	0	1	0	16066	86	3	3	152	3	TMEM147	19	36036858	Splice_Site	SNP	A	TCGA-KN-8436-01A-11D-2310-10	2543028	36036858	23092125	116	43427											
HRC	3270	mdanderson.org	37	19	49657916	49657916	+	Silent	SNP	T	T	C	rs7409255		TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr19:49657916T>C	ENST00000252825.4	-	1	765	c.579A>G	c.(577-579)gaA>gaG	p.E193E	HRC_ENST00000595625.1_Silent_p.E193E	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	193	4 X tandem repeats, acidic.|6 X approximate tandem repeats.|Glu-rich (acidic).				cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		cctcctcctcttcTCCTTCAT	0.557																																					Melanoma(37;75 1097 24567 25669 30645)											0													119	95	103					19																	49657916		2203	4300	6503	SO:0001819	synonymous_variant	3270				CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"histidine-rich calcium-binding protein"			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.579A>G	19.37:g.49657916T>C			Q504Y6	Silent	SNP	ENST00000252825.4	37	CCDS12759.1																																																																																				0.557	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152		C	49657916	T	C	49657916	2	2	742	1	0	0	0	0	0	0	0	1	7354	1606	56	3		3	HRC	19	49657916	Silent	SNP	T	TCGA-KN-8436-01A-11D-2310-10	13621058	49657916	9471067	117	43428	422	2									
HRC	3270	mdanderson.org	37	19	49657920	49657920	+	Missense_Mutation	SNP	C	C	T	rs200730671		TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr19:49657920C>T	ENST00000252825.4	-	1	761	c.575G>A	c.(574-576)gGa>gAa	p.G192E	HRC_ENST00000595625.1_Missense_Mutation_p.G192E	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	192	4 X tandem repeats, acidic.|6 X approximate tandem repeats.				cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		ctcctcttcTCCTTCATCATC	0.562																																					Melanoma(37;75 1097 24567 25669 30645)											0													124	98	107					19																	49657920		2203	4300	6503	SO:0001583	missense	3270				CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"histidine-rich calcium-binding protein"			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.575G>A	19.37:g.49657920C>T	ENSP00000252825:p.Gly192Glu		Q504Y6	Missense_Mutation	SNP	ENST00000252825.4	37	CCDS12759.1	.	.	.	.	.	.	.	.	.	.	c	0.009	-1.835792	0.00579	.	.	ENSG00000130528	ENST00000252825;ENST00000434964	T	0.05717	3.4	2.59	-1.01	0.10169	.	.	.	.	.	T	0.02156	0.0067	N	0.03608	-0.345	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.46289	-0.9202	9	0.02654	T	1	4.5523	7.8184	0.29274	0.0:0.7009:0.0:0.2991	.	192	P23327	SRCH_HUMAN	E	192;162	ENSP00000252825:G192E	ENSP00000252825:G192E	G	-	2	0	HRC	54349732	0.005000	0.15991	0.001000	0.08648	0.082000	0.17680	-0.740000	0.04861	-0.145000	0.11294	-0.389000	0.06534	GGA		0.562	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152		T	49657920	C	T	49657920	3	4	742	1	0	0	0	0	1	0	0	0	7354	855	30	2	1548	2	HRC	19	49657920	Missense_Mutation	SNP	C	TCGA-KN-8436-01A-11D-2310-10	4	49657920	9471063	118	43429	422	2									
PTPRH	5794	mdanderson.org	37	19	55716805	55716805	+	Missense_Mutation	SNP	G	G	A	rs200319382		TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr19:55716805G>A	ENST00000376350.3	-	4	530	c.508C>T	c.(508-510)Cac>Tac	p.H170Y	PTPRH_ENST00000263434.5_Intron|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	170	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)		ATGTTAGTGTGTGCTGTGCTT	0.567													t|||	1	0.000199681	0.0	0.0	5008	,	,		19765	0.001		0.0	False		,,,				2504	0.0															0													162	144	150					19																	55716805		2203	4299	6502	SO:0001583	missense	5794				CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.508C>T	19.37:g.55716805G>A	ENSP00000365528:p.His170Tyr		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	ENST00000376350.3	37	CCDS33110.1	.	.	.	.	.	.	.	.	.	.	t	14.77	2.635065	0.47049	.	.	ENSG00000080031	ENST00000376350	T	0.57436	0.4	3.93	-1.55	0.08558	Fibronectin, type III (4);Immunoglobulin-like fold (1);	3.173960	0.01664	N	0.025272	T	0.37046	0.0989	N	0.14661	0.345	0.09310	N	1	B	0.31519	0.327	B	0.35607	0.206	T	0.21759	-1.0236	10	0.51188	T	0.08	.	4.2695	0.10780	0.0:0.3384:0.3199:0.3416	.	170	Q9HD43	PTPRH_HUMAN	Y	170	ENSP00000365528:H170Y	ENSP00000365528:H170Y	H	-	1	0	PTPRH	60408617	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.994000	0.00656	-0.644000	0.05465	-2.191000	0.00312	CAC		0.567	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			A	55716805	G	A	55716805	3	1	742	1	0	0	0	0	1	0	0	0	12809	1377	48	2	2907	2	PTPRH	19	55716805	Missense_Mutation	SNP	G	TCGA-KN-8436-01A-11D-2310-10	6058885	55716805	3412178	119	43430											
PEG3	5178	ucsc.edu;mdanderson.org	37	19	57328023	57328023	+	Missense_Mutation	SNP	T	T	C	rs79960989	byFrequency	TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr19:57328023T>C	ENST00000326441.9	-	10	2150	c.1787A>G	c.(1786-1788)cAt>cGt	p.H596R	PEG3_ENST00000593695.1_Missense_Mutation_p.H470R|PEG3_ENST00000598410.1_Missense_Mutation_p.H472R|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.H596R|ZIM2_ENST00000601070.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	596					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)		ttcacgttcatgttcacgctc	0.458													T|||	60	0.0119808	0.0424	0.0043	5008	,	,		21623	0.001		0.0	False		,,,				2504	0.0															0								T	ARG/HIS,ARG/HIS,ARG/HIS,ARG/HIS,,,ARG/HIS,	134,4272	96.2+/-134.9	2,130,2071	107	83	91		1787,1409,1787,1415,,,1787,	-0.9	0	19	dbSNP_131	91	0,8600		0,0,4300	yes	missense,missense,missense,missense,intron,intron,missense,intron	PEG3,ZIM2	NM_001146184.1,NM_001146185.1,NM_001146186.1,NM_001146187.1,NM_001146326.1,NM_001146327.1,NM_006210.2,NM_015363.4	29,29,29,29,,,29,	2,130,6371	CC,CT,TT		0.0,3.0413,1.0303	benign,benign,benign,benign,,,benign,	596/1589,470/1463,596/1589,472/1465,,,596/1589,	57328023	134,12872	2203	4300	6503	SO:0001583	missense	5178			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.1787A>G	19.37:g.57328023T>C	ENSP00000326581:p.His596Arg		A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	CCDS12948.1	17	0.007783882783882784	16	0.032520325203252036	1	0.0027624309392265192	0	0.0	0	0.0	T	0.007	-2.013031	0.00422	0.030413	0.0	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.03004	4.08;4.08	1.69	-0.871	0.10642	.	.	.	.	.	T	0.00300	0.0009	N	0.00308	-1.67	.	.	.	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.45702	-0.9243	8	0.02654	T	1	.	3.022	0.06078	0.0:0.5185:0.2895:0.192	.	472;596;531	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	R	596	ENSP00000326581:H596R;ENSP00000403051:H596R	ENSP00000326581:H596R	H	-	2	0	ZIM2	62019835	0.000000	0.05858	0.002000	0.10522	0.108000	0.19459	-0.752000	0.04797	-0.083000	0.12618	-0.317000	0.08691	CAT		0.458	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			C	57328023	T	C	57328023	3	2	742	1	0	0	0	0	1	0	0	0	11722	1464	51	3	2983	3	PEG3	19	57328023	Missense_Mutation	SNP	T	TCGA-KN-8436-01A-11D-2310-10	1611218	57328023	1800960	120	43431											
SIRPB1	10326	mdanderson.org	37	20	1585454	1585454	+	Intron	SNP	C	C	T			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr20:1585454C>T	ENST00000381605.4	-	1	141				SIRPB1_ENST00000568365.1_Missense_Mutation_p.V229M|SIRPB1_ENST00000279477.7_Missense_Mutation_p.V229M|SIRPB1_ENST00000381596.1_5'Flank|SIRPB1_ENST00000381603.3_Intron|RP4-576H24.4_ENST00000564763.1_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1						cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						ACGTGGGCCACCTCGCAGATG	0.617																																																0													27	27	27					20																	1585454		178	712	890	SO:0001627	intron_variant	10326			Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.76+15060G>A	20.37:g.1585454C>T			A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	ENST00000381605.4	37	CCDS13019.1	.	.	.	.	.	.	.	.	.	.	.	17.10	3.303595	0.60305	.	.	ENSG00000101307	ENST00000279477	T	0.13538	2.58	2.24	2.24	0.28232	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	.	.	.	.	T	0.42314	0.1197	H	0.96518	3.835	0.80722	D	1	D	0.67145	0.996	P	0.62382	0.901	T	0.51156	-0.8741	9	0.66056	D	0.02	.	7.9259	0.29874	0.0:1.0:0.0:0.0	.	229	Q5TFQ8	SIRBL_HUMAN	M	229	ENSP00000279477:V229M	ENSP00000279477:V229M	V	-	1	0	SIRPB1	1533454	0.730000	0.28100	0.997000	0.53966	0.345000	0.29048	0.345000	0.19979	1.232000	0.43678	0.195000	0.17529	GTG		0.617	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		T	1585454	C	T	1585454	1	4	742	0	1	0	0	0	0	0	0	0	14339	507	18	2		2	SIRPB1	20	1585454	Intron	SNP	C	TCGA-KN-8436-01A-11D-2310-10		1585454	61440066	121	43432											
JAG1	182	mdanderson.org	37	20	10621581	10621581	+	Splice_Site	SNP	A	A	G			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr20:10621581A>G	ENST00000254958.5	-	25	3564	c.3049T>C	c.(3049-3051)Tct>Cct	p.S1017P	JAG1_ENST00000423891.2_Splice_Site_p.S858P	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	1017					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						TCTTCAGCAGACTGGAAAAAC	0.408									Alagille Syndrome																																							0													92	83	86					20																	10621581		2203	4300	6503	SO:0001630	splice_region_variant	182	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	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.3049-1T>C	20.37:g.10621581A>G			A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Missense_Mutation	SNP	ENST00000254958.5	37	CCDS13112.1	.	.	.	.	.	.	.	.	.	.	A	18.01	3.527328	0.64860	.	.	ENSG00000101384	ENST00000254958;ENST00000423891	D;D	0.87256	-2.22;-2.23	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.77280	0.4107	N	0.08118	0	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.73129	-0.4080	10	0.62326	D	0.03	.	16.2009	0.82078	1.0:0.0:0.0:0.0	.	1017	P78504	JAG1_HUMAN	P	1017;858	ENSP00000254958:S1017P;ENSP00000389519:S858P	ENSP00000254958:S1017P	S	-	1	0	JAG1	10569581	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	6.915000	0.75770	2.235000	0.73313	0.533000	0.62120	TCT		0.408	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214	Missense_Mutation	G	10621581	A	G	10621581	5	3	742	1	0	0	0	0	0	0	1	0	7936	289	10	3	615	3	JAG1	20	10621581	Splice_Site	SNP	A	TCGA-KN-8436-01A-11D-2310-10	9036127	10621581	52403939	122	43433											
BAGE	85319	hgsc.bcm.edu;mdanderson.org	37	21	11097574	11097574	+	RNA	SNP	T	T	A	rs55673353	byFrequency	TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr21:11097574T>A	ENST00000470054.1	-	0	295							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)		ggctccaacctccagctcacc	0.542																																																0													57	74	68					21																	11097574		1412	2555	3967			574			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.11097574T>A			A8K925|Q08ER0	Missense_Mutation	SNP	ENST00000470054.1	37																																																																																					0.542	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		A	11097574	T	A	11097574	1	1	742	0	1	0	0	0	0	0	0	0	1291	1550	54	5		5	BAGE	21	11097574	RNA	SNP	T	TCGA-KN-8436-01A-11D-2310-10		11097574	37032321	123	43434											
ERG	2078	mdanderson.org	37	21	39817391	39817391	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr21:39817391A>G	ENST00000417133.2	-	4	378	c.193T>C	c.(193-195)Tct>Cct	p.S65P	ERG_ENST00000398897.1_Intron|ERG_ENST00000398919.2_Missense_Mutation_p.S65P|ERG_ENST00000398905.1_Missense_Mutation_p.S58P|ERG_ENST00000398907.1_Missense_Mutation_p.S58P|ERG_ENST00000288319.7_Missense_Mutation_p.S58P|ERG_ENST00000442448.1_Missense_Mutation_p.S65P|ERG_ENST00000398910.1_Missense_Mutation_p.S65P|ERG_ENST00000429727.2_Missense_Mutation_p.S58P|ERG_ENST00000398911.1_Missense_Mutation_p.S65P|ERG_ENST00000453032.2_Intron	NM_001136154.1|NM_001243432.1	NP_001129626.1|NP_001230361.1	Q12809	KCNH2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	0	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.		T -> P (in LQT2; dbSNP:rs28933095). {ECO:0000269|PubMed:12354768, 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)	GGGGGTTGAGACAGCCAATCC	0.567			T	"EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"	"Ewing sarcoma, prostate, AML"																																Esophageal Squamous(130;336 1700 3010 3083 40589)		Dom	yes		21	21q22.3	2078	v-ets erythroblastosis virus E26 oncogene like (avian)		"M, E, L"	0													99	82	88					21																	39817391		2203	4300	6503	SO:0001583	missense	2078				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.193T>C	21.37:g.39817391A>G	ENSP00000414150:p.Ser65Pro		A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	ENST00000417133.2	37	CCDS46648.1	.	.	.	.	.	.	.	.	.	.	A	13.07	2.128379	0.37533	.	.	ENSG00000157554	ENST00000398905;ENST00000398907;ENST00000288319;ENST00000398911;ENST00000417133;ENST00000398910;ENST00000442448;ENST00000398919;ENST00000429727	T;T;T;T;T;T;T;T	0.15256	2.46;2.44;2.46;2.45;2.46;2.45;2.45;2.46	5.77	3.1	0.35709	.	0.355623	0.28828	N	0.014019	T	0.11281	0.0275	N	0.19112	0.55	0.41687	D	0.989328	B;B;B;B;B	0.11235	0.001;0.0;0.004;0.001;0.0	B;B;B;B;B	0.17098	0.006;0.001;0.017;0.003;0.0	T	0.09751	-1.0660	10	0.39692	T	0.17	.	10.8199	0.46599	0.851:0.0:0.149:0.0	.	58;65;65;65;58	B4E3C5;P11308;P11308-6;P11308-1;P11308-4	.;ERG_HUMAN;.;.;.	P	58;58;58;65;65;65;65;65;58	ENSP00000381877:S58P;ENSP00000381879:S58P;ENSP00000288319:S58P;ENSP00000381882:S65P;ENSP00000414150:S65P;ENSP00000381881:S65P;ENSP00000394694:S65P;ENSP00000381891:S65P	ENSP00000288319:S58P	S	-	1	0	ERG	38739261	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.432000	0.59922	1.011000	0.39340	0.533000	0.62120	TCT		0.567	ERG-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207532.2	NM_182918		G	39817391	A	G	39817391	3	3	742	1	0	0	0	0	1	0	0	0	5224	275	10	3	1303	3	ERG	21	39817391	Missense_Mutation	SNP	A	TCGA-KN-8436-01A-11D-2310-10	28719817	39817391	8312504	124	43435											
KRTAP10-10	353333	ucsc.edu	37	21	46057634	46057634	+	Silent	SNP	T	T	C	rs61029972	byFrequency	TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr21:46057634T>C	ENST00000380095.1	+	1	362	c.300T>C	c.(298-300)tgT>tgC	p.C100C	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	100	15 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						ctgtctgctgtgtgcccgtct	0.632													C|||	539	0.107628	0.2383	0.0591	5008	,	,		18755	0.0109		0.0557	False		,,,				2504	0.1186															0													126	121	123					21																	46057634		2203	4298	6501	SO:0001819	synonymous_variant	353333			AJ566387	CCDS33585.1	21q22.3	2006-03-13			ENSG00000221859	ENSG00000221859		"Keratin associated proteins"	22972	protein-coding gene	gene with protein product							Standard	NM_181688		Approved	KAP10.10, KAP18.10, KRTAP18-10	uc002zfq.3	P60014	OTTHUMG00000057631	ENST00000380095.1:c.300T>C	21.37:g.46057634T>C				Silent	SNP	ENST00000380095.1	37	CCDS33585.1																																																																																				0.632	KRTAP10-10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128034.1	NM_181688		C	46057634	T	C	46057634	2	2	742	1	0	0	0	0	0	0	0	1	8508	1702	59	3		3	KRTAP10-10	21	46057634	Silent	SNP	T	TCGA-KN-8436-01A-11D-2310-10	6240243	46057634	2072261	125	43436											
AIFM3	150209	ucsc.edu	37	22	21334338	21334338	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr22:21334338T>C	ENST00000399167.2	+	19	1922	c.1682T>C	c.(1681-1683)aTg>aCg	p.M561T	LZTR1_ENST00000479606.1_3'UTR|AIFM3_ENST00000399163.2_Missense_Mutation_p.M561T|XXbac-B135H6.18_ENST00000610278.1_lincRNA|LZTR1_ENST00000389355.3_5'Flank|LZTR1_ENST00000215739.8_5'Flank|AIFM3_ENST00000333607.6_Missense_Mutation_p.M561T|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000440238.2_Missense_Mutation_p.M561T|AIFM3_ENST00000405089.1_Missense_Mutation_p.M567T|AIFM3_ENST00000335375.5_Missense_Mutation_p.M549T	NM_144704.2	NP_653305.1	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 3	561					cell redox homeostasis (GO:0045454)|execution phase of apoptosis (GO:0097194)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-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;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GTGGCCAGCATGAACTACGAT	0.617																																																0													71	57	61					22																	21334338		2203	4300	6503	SO:0001583	missense	150209			AK094844	CCDS13786.1, CCDS33605.1, CCDS54503.1	22q11.21	2007-05-03			ENSG00000183773	ENSG00000183773			26398	protein-coding gene	gene with protein product						15764604	Standard	NM_144704		Approved	AIFL, FLJ30473		Q96NN9	OTTHUMG00000150804	ENST00000399167.2:c.1682T>C	22.37:g.21334338T>C	ENSP00000382120:p.Met561Thr		B7WP37|D3DX37|D3DX38|Q6ZT44|Q8N1V3|Q8N5E0	Missense_Mutation	SNP	ENST00000399167.2	37	CCDS13786.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.329743	0.81690	.	.	ENSG00000183773;ENSG00000183773;ENSG00000183773;ENSG00000183773;ENSG00000183773;ENSG00000183773;ENSG00000099949	ENST00000399167;ENST00000399163;ENST00000405089;ENST00000335375;ENST00000440238;ENST00000333607;ENST00000539817	T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97	4.87	4.87	0.63330	FAD/NAD-linked reductase, dimerisation (1);Pyridine nucleotide-disulphide oxidoreductase, dimerisation (1);	0.000000	0.85682	D	0.000000	T	0.62417	0.2426	M	0.84511	2.7	0.80722	D	1	D;P;P;P;P;P	0.65815	0.995;0.814;0.865;0.93;0.93;0.885	P;P;B;P;P;B	0.58721	0.844;0.774;0.306;0.62;0.62;0.416	T	0.69250	-0.5194	10	0.66056	D	0.02	-4.5669	12.4825	0.55852	0.0:0.0:0.0:1.0	.	549;1;549;567;561;561	B7Z9S7;F5GXU8;B7Z376;Q96NN9-2;Q96NN9-3;Q96NN9	.;.;.;.;.;AIFM3_HUMAN	T	561;561;567;549;561;561;1	ENSP00000382120:M561T;ENSP00000382116:M561T;ENSP00000385800:M567T;ENSP00000335369:M549T;ENSP00000390798:M561T;ENSP00000327671:M561T	ENSP00000327671:M561T	M	+	2	0	AIFM3;LZTR1	19664338	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	6.993000	0.76245	2.047000	0.60756	0.533000	0.62120	ATG		0.617	AIFM3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320150.1	NM_144704		C	21334338	T	C	21334338	3	2	742	1	0	0	0	0	1	0	0	0	428	1464	51	3	1770	3	AIFM3	22	21334338	Missense_Mutation	SNP	T	TCGA-KN-8436-01A-11D-2310-10		21334338	29970228	126	43437											
FAM118A	55007	mdanderson.org	37	22	45723920	45723920	+	Silent	SNP	C	C	T	rs111386114		TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr22:45723920C>T	ENST00000216214.3	+	5	1332	c.498C>T	c.(496-498)tcC>tcT	p.S166S	FAM118A_ENST00000405673.1_Silent_p.S166S|FAM118A_ENST00000441876.2_Silent_p.S166S|FAM118A_ENST00000405548.3_5'Flank	NM_001104595.1	NP_001098065.1	Q9NWS6	F118A_HUMAN	family with sequence similarity 118, member A	166						integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		CCATGGAGTCCCTGGACTTGA	0.617																																																0													11	10	10					22																	45723920		2198	4293	6491	SO:0001819	synonymous_variant	55007			BC013696	CCDS14065.1	22q13.3	2006-04-26	2006-04-26	2006-04-26	ENSG00000100376	ENSG00000100376			1313	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 8"	C22orf8		12477932	Standard	NM_001104595		Approved	FLJ20635, bK268H5.C22.4	uc003bga.4	Q9NWS6	OTTHUMG00000151338	ENST00000216214.3:c.498C>T	22.37:g.45723920C>T			B3KWG4|B4DY02|Q5TII5|Q96CY3	Silent	SNP	ENST00000216214.3	37	CCDS14065.1																																																																																				0.617	FAM118A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322260.1	NM_017911		T	45723920	C	T	45723920	2	4	742	1	0	0	0	0	0	0	0	1	5413	610	22	2		2	FAM118A	22	45723920	Silent	SNP	C	TCGA-KN-8436-01A-11D-2310-10	24389582	45723920	5580646	127	43438											
FAM9C	171484	mdanderson.org	37	X	13058890	13058890	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chrX:13058890T>C	ENST00000333995.3	-	5	446	c.316A>G	c.(316-318)Aca>Gca	p.T106A	FAM9C_ENST00000380625.3_Missense_Mutation_p.T106A|FAM9C_ENST00000542843.1_3'UTR			Q8IZT9	FAM9C_HUMAN	family with sequence similarity 9, member C	106						nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						TTTAGTTGTGTTGTTCTCAAA	0.299																																																0													104	81	89					X																	13058890		2202	4294	6496	SO:0001583	missense	171484				CCDS35203.1	Xp22.32	2013-03-14			ENSG00000187268	ENSG00000187268			18405	protein-coding gene	gene with protein product	"testis expressed 39C"	300479					Standard	NM_174901		Approved	TEX39C	uc004cvh.2	Q8IZT9	OTTHUMG00000021143	ENST00000333995.3:c.316A>G	X.37:g.13058890T>C	ENSP00000334430:p.Thr106Ala		B2R9G7|Q5HYJ6	Missense_Mutation	SNP	ENST00000333995.3	37	CCDS35203.1	.	.	.	.	.	.	.	.	.	.	T	0.011	-1.694937	0.00731	.	.	ENSG00000187268	ENST00000380625;ENST00000333995	T;T	0.21191	2.02;2.02	0.588	0.588	0.17445	.	.	.	.	.	T	0.09379	0.0231	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.33317	-0.9873	8	0.30854	T	0.27	.	.	.	.	.	106	Q8IZT9	FAM9C_HUMAN	A	106	ENSP00000369999:T106A;ENSP00000334430:T106A	ENSP00000334430:T106A	T	-	1	0	FAM9C	12968811	0.997000	0.39634	0.001000	0.08648	0.033000	0.12548	0.391000	0.20784	0.436000	0.26393	0.150000	0.16122	ACA		0.299	FAM9C-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316476.1	NM_174901		C	13058890	T	C	13058890	3	2	742	1	0	0	0	0	1	0	0	0	5663	1725	60	3	196	3	FAM9C	23	13058890	Missense_Mutation	SNP	T	TCGA-KN-8436-01A-11D-2310-10		13058890	142211670	128	43439											
SSX7	280658	mdanderson.org	37	X	52681937	52681937	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chrX:52681937T>C	ENST00000298181.5	-	3	325	c.167A>G	c.(166-168)gAg>gGg	p.E56G		NM_173358.2	NP_775494.1	Q7RTT5	SSX7_HUMAN	synovial sarcoma, X breakpoint 7	56	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(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16	Ovarian(276;0.236)					AGTCATGGCCTCATACTTTCT	0.408																																																0													141	110	120					X																	52681937		2203	4299	6502	SO:0001583	missense	280658			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.167A>G	X.37:g.52681937T>C	ENSP00000298181:p.Glu56Gly			Missense_Mutation	SNP	ENST00000298181.5	37	CCDS14343.1	.	.	.	.	.	.	.	.	.	.	N	2.360	-0.346762	0.05208	.	.	ENSG00000187754	ENST00000298181	T	0.00808	5.67	0.56	-1.12	0.09808	Krueppel-associated box (2);Krueppel-associated box-related (1);	1.212960	0.06009	N	0.649154	T	0.00967	0.0032	L	0.35288	1.05	0.09310	N	1	B	0.16802	0.019	B	0.21151	0.033	T	0.48603	-0.9021	9	0.46703	T	0.11	.	.	.	.	.	56	Q7RTT5	SSX7_HUMAN	G	56	ENSP00000298181:E56G	ENSP00000298181:E56G	E	-	2	0	SSX7	52698662	0.131000	0.22433	0.000000	0.03702	0.011000	0.07611	0.641000	0.24720	-0.722000	0.04922	0.146000	0.16034	GAG		0.408	SSX7-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056671.1	NM_173358		C	52681937	T	C	52681937	3	2	742	1	0	0	0	0	1	0	0	0	15214	1551	54	3	419	3	SSX7	23	52681937	Missense_Mutation	SNP	T	TCGA-KN-8436-01A-11D-2310-10	39623047	52681937	102588623	129	43440											
RGAG4	340526	mdanderson.org	37	X	71350156	71350156	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chrX:71350156T>C	ENST00000545866.1	-	1	1602	c.1235A>G	c.(1234-1236)aAc>aGc	p.N412S	NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000609883.1_Missense_Mutation_p.N412S	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	412										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					CTCATTCTTGTTCCTTATctc	0.488																																																0													181	166	171					X																	71350156		2112	4196	6308	SO:0001583	missense	340526			AB082532	CCDS55446.1	Xq13.1	2008-02-05			ENSG00000242732	ENSG00000242732			29430	protein-coding gene	gene with protein product						12056414, 15716091, 16093683	Standard	NM_001024455		Approved	KIAA2001, Mar5, Mart5	uc004eaj.2	Q5HYW3	OTTHUMG00000021808	ENST00000545866.1:c.1235A>G	X.37:g.71350156T>C	ENSP00000441366:p.Asn412Ser		A7E2W7|Q8NCM4|Q9NPX1	Missense_Mutation	SNP	ENST00000545866.1	37	CCDS55446.1	.	.	.	.	.	.	.	.	.	.	T	9.642	1.139364	0.21205	.	.	ENSG00000242732	ENST00000545866;ENST00000479991	T;T	0.13307	2.6;2.6	4.24	-5.78	0.02362	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.40421	-0.9564	8	.	.	.	.	3.4147	0.07372	0.1281:0.4348:0.1242:0.3129	.	412	Q5HYW3	RGAG4_HUMAN	S	412	ENSP00000441366:N412S;ENSP00000418667:N412S	.	N	-	2	0	RGAG4	71266881	0.001000	0.12720	0.000000	0.03702	0.010000	0.07245	1.051000	0.30417	-1.520000	0.01773	-0.438000	0.05819	AAC		0.488	RGAG4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057171.1	NM_001024455		C	71350156	T	C	71350156	3	2	742	1	0	0	0	0	1	0	0	0	13281	1725	60	3	478	3	RGAG4	23	71350156	Missense_Mutation	SNP	T	TCGA-KN-8436-01A-11D-2310-10	18668219	71350156	83920404	130	43441											
LPAR4	2846	mdanderson.org	37	X	78010586	78010586	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chrX:78010586A>G	ENST00000435339.3	+	2	606	c.220A>G	c.(220-222)Act>Gct	p.T74A		NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	74					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)|lipid binding (GO:0008289)			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						GAGAAGTGAGACTGCTATTTT	0.393																																																0													237	194	209					X																	78010586		2203	4300	6503	SO:0001583	missense	2846			U90322	CCDS14441.1	Xq21.1	2012-08-08	2008-04-11	2008-04-11	ENSG00000147145	ENSG00000147145		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	4478	protein-coding gene	gene with protein product		300086	"G protein-coupled receptor 23"	GPR23			Standard	NM_005296		Approved	P2Y9, P2Y5-LIKE, P2RY9, LPA4	uc010nme.3	Q99677	OTTHUMG00000021895	ENST00000435339.3:c.220A>G	X.37:g.78010586A>G	ENSP00000408205:p.Thr74Ala		B2RAC7|O15132|Q502U9|Q6NSP5	Missense_Mutation	SNP	ENST00000435339.3	37	CCDS14441.1	.	.	.	.	.	.	.	.	.	.	A	14.50	2.554702	0.45487	.	.	ENSG00000147145	ENST00000435339;ENST00000373301	T;T	0.39787	1.06;1.06	3.97	3.97	0.46021	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.54532	0.1864	L	0.58583	1.82	0.46499	D	0.999075	D	0.89917	1.0	D	0.97110	1.0	T	0.50915	-0.8771	10	0.14252	T	0.57	.	11.0205	0.47715	1.0:0.0:0.0:0.0	.	74	Q99677	LPAR4_HUMAN	A	74	ENSP00000408205:T74A;ENSP00000362398:T74A	ENSP00000362398:T74A	T	+	1	0	LPAR4	77897242	1.000000	0.71417	0.980000	0.43619	0.985000	0.73830	8.627000	0.90974	1.471000	0.48121	0.345000	0.21793	ACT		0.393	LPAR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057322.2	NM_005296		G	78010586	A	G	78010586	3	3	742	1	0	0	0	0	1	0	0	0	8909	275	10	3	222	3	LPAR4	23	78010586	Missense_Mutation	SNP	A	TCGA-KN-8436-01A-11D-2310-10	6660430	78010586	77259974	131	43442											
GPR50	9248	hgsc.bcm.edu	37	X	150349560	150349560	+	Missense_Mutation	SNP	C	C	T	rs377556761|rs199797606|rs68058591		TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chrX:150349560C>T	ENST00000218316.3	+	2	1574	c.1505C>T	c.(1504-1506)aCc>aTc	p.T502I	AF003625.3_ENST00000602313.1_lincRNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	502	Pro-rich.		Missing (lower fasting circulating triglyceride levels). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:8647286, ECO:0000269|Ref.2}.		cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)	p.T502_H505delTTGH(1)		breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CCTAAACCCACCACTGGCCAC	0.612																																																1	Deletion - In frame(1)	ovary(1)											68	80	76					X																	150349560		1957	3997	5954	SO:0001583	missense	9248			U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"GPCR / Class A : Orphans"	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.1505C>T	X.37:g.150349560C>T	ENSP00000218316:p.Thr502Ile		Q0VGG3|Q3ZAR0	Missense_Mutation	SNP	ENST00000218316.3	37	CCDS44012.1	458	0.2760699216395419	91	0.21875	100	0.3184713375796178	85	0.15625	133	0.19674556213017752	C	4.117	0.019984	0.08006	.	.	ENSG00000102195	ENST00000218316	T	0.72282	-0.64	3.47	1.66	0.24008	.	0.547897	0.19336	N	0.116768	T	0.00012	0.0000	N	0.19112	0.55	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.12682	-1.0538	10	0.87932	D	0	-1.8077	2.4216	0.04449	0.2395:0.4806:0.0:0.2799	.	502	Q13585	MTR1L_HUMAN	I	502	ENSP00000218316:T502I	ENSP00000218316:T502I	T	+	2	0	GPR50	150100218	0.000000	0.05858	0.003000	0.11579	0.049000	0.14656	-0.093000	0.11111	0.311000	0.23014	0.529000	0.55759	ACC		0.612	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1	NM_004224		T	150349560	C	T	150349560	3	4	742	1	0	0	0	0	1	0	0	0	6699	507	18	2	1511	2	GPR50	23	150349560	Missense_Mutation	SNP	C	TCGA-KN-8436-01A-11D-2310-10	72338974	150349560	4921000	132	43443											
GABRE	2564	mdanderson.org	37	X	151123190	151123190	+	Missense_Mutation	SNP	C	C	A	rs1061417	byFrequency	TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chrX:151123190C>A	ENST00000370328.3	-	9	1557	c.1504G>T	c.(1504-1506)Gtt>Ttt	p.V502F	GABRE_ENST00000370325.1_3'UTR|GABRE_ENST00000483564.1_5'UTR|AF274855.1_ENST00000582865.1_RNA	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	502				V -> F (in Ref. 2; CAA70903). {ECO:0000305}.	gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TTAAGGCAAACAAGCCAGTAG	0.547																																																0													23	23	23					X																	151123190		2203	4297	6500	SO:0001583	missense	2564			Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4085	protein-coding gene	gene with protein product	"GABA(A) receptor, epsilon"	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.1504G>T	X.37:g.151123190C>A	ENSP00000359353:p.Val502Phe		E7ET93|O15345|O15346|Q6PCD2|Q99520	Missense_Mutation	SNP	ENST00000370328.3	37	CCDS14703.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.526136	0.44969	.	.	ENSG00000102287	ENST00000370328	D	0.81996	-1.56	5.34	2.5	0.30297	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.344162	0.20485	N	0.091418	T	0.68805	0.3041	N	0.16743	0.435	0.23101	N	0.998298	P	0.50272	0.933	P	0.48030	0.564	T	0.58645	-0.7600	10	0.18710	T	0.47	.	2.8551	0.05570	0.1845:0.5352:0.1754:0.1049	rs1061417;rs1061417	502	P78334	GBRE_HUMAN	F	502	ENSP00000359353:V502F	ENSP00000359353:V502F	V	-	1	0	GABRE	150873846	0.003000	0.15002	0.979000	0.43373	0.739000	0.42172	0.123000	0.15708	0.077000	0.16863	0.600000	0.82982	GTT		0.547	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1	NM_004961, NM_021990, NM_021984		A	151123190	C	A	151123190	3	1	742	1	0	0	0	0	1	0	0	0	6172	478	17	4	20	4	GABRE	23	151123190	Missense_Mutation	SNP	C	TCGA-KN-8436-01A-11D-2310-10	773630	151123190	4147370	133	43444											
ABCD1	215	mdanderson.org	37	X	153008788	153008788	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chrX:153008788G>A	ENST00000218104.3	+	9	2378	c.1979G>A	c.(1978-1980)cGg>cAg	p.R660Q	U52111.14_ENST00000434284.1_RNA	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	660	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.		R -> P (in ALD; CALD-type). {ECO:0000269|PubMed:11438993}.|R -> Q (in ALD). {ECO:0000269|PubMed:21889498}.|R -> W (in ALD; CALD, ALMD and AS-types).		alpha-linolenic acid metabolic process (GO:0036109)|ATP catabolic process (GO:0006200)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|linoleic acid metabolic process (GO:0043651)|long-chain fatty acid catabolic process (GO:0042758)|peroxisomal long-chain fatty acid import (GO:0015910)|peroxisomal membrane transport (GO:0015919)|peroxisome organization (GO:0007031)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid catabolic process (GO:0042760)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|peroxisomal fatty-acyl-CoA transporter activity (GO:0005325)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATCACCCACCGGCCCTCCCTG	0.692																																																0			GRCh37	CM012042	ABCD1	M							19	16	17					X																	153008788		2189	4274	6463	SO:0001583	missense	215			Z21876	CCDS14728.1	Xq28	2012-03-14			ENSG00000101986	ENSG00000101986		"ATP binding cassette transporters / subfamily D"	61	protein-coding gene	gene with protein product		300371		ALD		8441467, 6795626	Standard	NM_000033		Approved	AMN, ALDP, adrenoleukodystrophy	uc004fif.2	P33897	OTTHUMG00000024215	ENST00000218104.3:c.1979G>A	X.37:g.153008788G>A	ENSP00000218104:p.Arg660Gln		Q6GTZ2	Missense_Mutation	SNP	ENST00000218104.3	37	CCDS14728.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.839976	0.91117	.	.	ENSG00000101986	ENST00000218104	D	0.99855	-7.2	4.69	4.69	0.59074	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.64402	D	0.000017	D	0.99862	0.9935	M	0.86864	2.845	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96260	0.9190	10	0.87932	D	0	-33.9595	15.8397	0.78835	0.0:0.0:1.0:0.0	.	660	P33897	ABCD1_HUMAN	Q	660	ENSP00000218104:R660Q	ENSP00000218104:R660Q	R	+	2	0	ABCD1	152661982	1.000000	0.71417	0.994000	0.49952	0.613000	0.37349	9.349000	0.97066	2.073000	0.62155	0.523000	0.50628	CGG		0.692	ABCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061041.1	NM_000033		A	153008788	G	A	153008788	3	1	742	1	0	0	0	0	1	0	0	0	60	1116	39	1	2013	1	ABCD1	23	153008788	Missense_Mutation	SNP	G	TCGA-KN-8436-01A-11D-2310-10	1885598	153008788	2261772	134	43445											
ATP6AP1	537	broad.mit.edu;hgsc.bcm.edu	37	X	153662709	153662745	+	Frame_Shift_Del	DEL	CCAGTGGGAGGACCTGACTCCCCTCACCTTTGGGGTG	CCAGTGGGAGGACCTGACTCCCCTCACCTTTGGGGTG	-			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	CCAGTGGGAGGACCTGACTCCCCTCACCTTTGGGGTG	CCAGTGGGAGGACCTGACTCCCCTCACCTTTGGGGTG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chrX:153662709_153662745delCCAGTGGGAGGACCTGACTCCCCTCACCTTTGGGGTG	ENST00000369762.2	+	7	901_937	c.840_876delCCAGTGGGAGGACCTGACTCCCCTCACCTTTGGGGTG	c.(838-876)gaccagtgggaggacctgactcccctcacctttggggtgfs	p.DQWEDLTPLTFGV280fs	GDI1_ENST00000447750.2_5'Flank	NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1	280					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)	p.L288R(1)		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)					CGTACAAGGACCAGTGGGAGGACCTGACTCCCCTCACCTTTGGGGTGCAGGAACTCA	0.57																																																1	Substitution - Missense(1)	ovary(1)																																								SO:0001589	frameshift_variant	537			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.840_876delCCAGTGGGAGGACCTGACTCCCCTCACCTTTGGGGTG	X.37:g.153662709_153662745delCCAGTGGGAGGACCTGACTCCCCTCACCTTTGGGGTG	ENSP00000358777:p.Asp280fs		A6ZKI4|Q8NBT4|Q9H0C7	Frame_Shift_Del	DEL	ENST00000369762.2	37	CCDS35451.1																																																																																				0.57	ATP6AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081639.4	NM_001183		-	153662745	CCAGTGGGAGGACCTGACTCCCCTCACCTTTGGGGTG	-	153662709	7	5	742	1	0	1	0	1	0	0	0	0	1165	506	18	0	866	0	ATP6AP1	23	153662709	Frame_Shift_Del	DEL	CCAGTGGGAGGACCTGACTCCCCTCACCTTTGGGGTG	TCGA-KN-8436-01A-11D-2310-10	653921	153662709	1607851	135	43446	423	2									
ATP6AP1	537	bcgsc.ca	37	X	153662710	153662746	+	Frame_Shift_Del	DEL	CCAGTGGGAGGACCTGACTCCCCTCACCTTTGGGGTG	CCAGTGGGAGGACCTGACTCCCCTCACCTTTGGGGTG	-			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	CCAGTGGGAGGACCTGACTCCCCTCACCTTTGGGGTG	CCAGTGGGAGGACCTGACTCCCCTCACCTTTGGGGTG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chrX:153662710_153662746delCCAGTGGGAGGACCTGACTCCCCTCACCTTTGGGGTG	ENST00000369762.2	+	7	902_938	c.841_877delCCAGTGGGAGGACCTGACTCCCCTCACCTTTGGGGTG	c.(841-879)ccagtgggaggacctgactcccctcacctttggggtgagfs	p.PVGGPDSPHLWGE281fs	GDI1_ENST00000447750.2_5'Flank	NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1	281					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)	p.L288R(1)		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)					GTACAAGGACCAGTGGGAGGACCTGACTCCCCTCACCTTTGGGGTGCAGGAACTCAA	0.574																																																1	Substitution - Missense(1)	ovary(1)																																								SO:0001589	frameshift_variant	537			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.841_877delCCAGTGGGAGGACCTGACTCCCCTCACCTTTGGGGTG	X.37:g.153662710_153662746delCCAGTGGGAGGACCTGACTCCCCTCACCTTTGGGGTG	ENSP00000358777:p.Pro281fs		A6ZKI4|Q8NBT4|Q9H0C7	Frame_Shift_Del	DEL	ENST00000369762.2	37	CCDS35451.1																																																																																				0.574	ATP6AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081639.4	NM_001183		-	153662746	CCAGTGGGAGGACCTGACTCCCCTCACCTTTGGGGTG	-	153662710	7	5	742	1	0	1	0	1	0	0	0	0	1165	595	21	0	867	0	ATP6AP1	23	153662710	Frame_Shift_Del	DEL	CCAGTGGGAGGACCTGACTCCCCTCACCTTTGGGGTG	TCGA-KN-8436-01A-11D-2310-10	1	153662710	1607850	136	43447	423	2									
MTOR	2475	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	1	11174395	11174395	+	Missense_Mutation	SNP	A	A	C			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr1:11174395A>C	ENST00000361445.4	-	53	7356	c.7280T>G	c.(7279-7281)cTg>cGg	p.L2427R	MTOR_ENST00000376838.1_Missense_Mutation_p.L632R	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2427	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)	CCTCCAGTTCAGCAAGGGGTC	0.537																																																0													135	115	122					1																	11174395		2203	4300	6503	SO:0001583	missense	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.7280T>G	1.37:g.11174395A>C	ENSP00000354558:p.Leu2427Arg		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	CCDS127.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.750738	0.89753	.	.	ENSG00000198793	ENST00000361445;ENST00000376838;ENST00000455339	T;T;T	0.80033	-1.33;-1.33;-1.33	5.89	5.89	0.94794	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	D	0.91730	0.7385	M	0.92026	3.265	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93392	0.6752	10	0.87932	D	0	-16.8498	15.497	0.75662	1.0:0.0:0.0:0.0	.	2427	P42345	MTOR_HUMAN	R	2427;632;83	ENSP00000354558:L2427R;ENSP00000366034:L632R;ENSP00000398745:L83R	ENSP00000354558:L2427R	L	-	2	0	MTOR	11096982	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.923000	0.92808	2.254000	0.74563	0.533000	0.62120	CTG		0.537	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		C	11174395	A	C	11174395	3	2	743	1	0	0	0	0	1	0	0	0	9956	188	7	5	393	5	MTOR	1	11174395	Missense_Mutation	SNP	A	TCGA-KN-8437-01A-11D-2310-10		11174395	238076226	1	43448											
PRDM2	7799	broad.mit.edu	37	1	14107869	14107869	+	Silent	SNP	T	T	C			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr1:14107869T>C	ENST00000235372.7	+	8	4435	c.3579T>C	c.(3577-3579)tgT>tgC	p.C1193C	PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000343137.4_Silent_p.C992C|PRDM2_ENST00000311066.5_Silent_p.C1193C|PRDM2_ENST00000413440.1_Silent_p.C992C	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1193					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)		TCTTTGTGTGTTCTGTTTGTA	0.413																																																0													97	95	95					1																	14107869		2203	4300	6503	SO:0001819	synonymous_variant	7799			U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"Chromatin-modifying enzymes / K-methyltransferases"	9347	protein-coding gene	gene with protein product	"retinoblastoma protein-binding zinc finger protein", "retinoblastoma protein-interacting zinc finger protein", "MTE-binding protein", "zinc-finger DNA-binding protein", "GATA-3 binding protein G3B"	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.3579T>C	1.37:g.14107869T>C			B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Silent	SNP	ENST00000235372.7	37	CCDS150.1																																																																																				0.413	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		C	14107869	T	C	14107869	2	2	743	1	0	0	0	0	0	0	0	1	12463	1731	60	3		3	PRDM2	1	14107869	Silent	SNP	T	TCGA-KN-8437-01A-11D-2310-10	2933474	14107869	235142752	2	43449											
TAS1R2	80834	broad.mit.edu	37	1	19166380	19166380	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr1:19166380A>G	ENST00000375371.3	-	6	2254	c.2233T>C	c.(2233-2235)Ttc>Ctc	p.F745L		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	745					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)	ATGTAGGCGAAGCTGAAACCC	0.542																																																0													133	118	123					1																	19166380		2203	4300	6503	SO:0001583	missense	80834				CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	14905	protein-coding gene	gene with protein product		606226	"G protein-coupled receptor 71"	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.2233T>C	1.37:g.19166380A>G	ENSP00000364520:p.Phe745Leu		Q5TZ19	Missense_Mutation	SNP	ENST00000375371.3	37	CCDS187.1	.	.	.	.	.	.	.	.	.	.	A	14.97	2.693428	0.48202	.	.	ENSG00000179002	ENST00000375371	D	0.85484	-1.99	5.07	5.07	0.68467	GPCR, family 3, C-terminal (2);	0.000000	0.50627	D	0.000110	D	0.89203	0.6648	M	0.77313	2.365	0.43857	D	0.996458	D	0.89917	1.0	D	0.91635	0.999	D	0.87051	0.2147	10	0.05525	T	0.97	.	9.1243	0.36805	0.8157:0.1843:0.0:0.0	.	745	Q8TE23	TS1R2_HUMAN	L	745	ENSP00000364520:F745L	ENSP00000364520:F745L	F	-	1	0	TAS1R2	19038967	0.990000	0.36364	0.981000	0.43875	0.166000	0.22503	3.097000	0.50251	1.916000	0.55485	0.533000	0.62120	TTC		0.542	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1			G	19166380	A	G	19166380	3	3	743	1	0	0	0	0	1	0	0	0	15568	72	3	3	290	3	TAS1R2	1	19166380	Missense_Mutation	SNP	A	TCGA-KN-8437-01A-11D-2310-10	5058511	19166380	230084241	3	43450											
LCK	3932	broad.mit.edu	37	1	32741193	32741193	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr1:32741193G>A	ENST00000336890.5	+	6	539	c.401G>A	c.(400-402)cGc>cAc	p.R134H	LCK_ENST00000373564.3_Missense_Mutation_p.R192H|LCK_ENST00000333070.4_Missense_Mutation_p.R134H	NM_005356.3	NP_005347.3	P06239	LCK_HUMAN	LCK proto-oncogene, Src family tyrosine kinase	134	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				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)	AACCTGAGCCGCAAGGACGCG	0.682			T	TRB@	T-ALL																																		Dom	yes		1	1p35-p34.3	3932	lymphocyte-specific protein tyrosine kinase		L	0													7	9	8					1																	32741193		2164	4254	6418	SO:0001583	missense	3932			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.401G>A	1.37:g.32741193G>A	ENSP00000337825:p.Arg134His		D3DPP8|P07100|Q12850|Q13152|Q5TDH8|Q5TDH9|Q7RTZ3|Q96DW4|Q9NYT8	Missense_Mutation	SNP	ENST00000336890.5	37	CCDS359.1	.	.	.	.	.	.	.	.	.	.	g	35	5.545253	0.96488	.	.	ENSG00000182866	ENST00000336890;ENST00000482949;ENST00000495610;ENST00000373562;ENST00000373557;ENST00000333070;ENST00000436824;ENST00000373564	D;T;D;T;D;D;D	0.93019	-3.15;-0.17;-3.15;-0.18;-3.15;-3.15;-3.15	5.12	5.12	0.69794	SH2 motif (5);	0.195954	0.33161	N	0.005219	D	0.98419	0.9474	H	0.99464	4.58	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;0.988;0.98;1.0	D	0.99737	1.1014	10	0.87932	D	0	.	17.7565	0.88450	0.0:0.0:1.0:0.0	.	178;192;134;134	E7EN21;Q573B4;P06239-3;P06239	.;.;.;LCK_HUMAN	H	134;192;134;134;178;134;178;192	ENSP00000337825:R134H;ENSP00000431517:R192H;ENSP00000435605:R134H;ENSP00000362663:R134H;ENSP00000362658:R178H;ENSP00000328213:R134H;ENSP00000362665:R192H	ENSP00000328213:R134H	R	+	2	0	LCK	32513780	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	9.765000	0.98953	2.571000	0.86741	0.505000	0.49811	CGC		0.682	LCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019616.4	NM_005356		A	32741193	G	A	32741193	3	1	743	1	0	0	0	0	1	0	0	0	8678	1087	38	1	419	1	LCK	1	32741193	Missense_Mutation	SNP	G	TCGA-KN-8437-01A-11D-2310-10	13574813	32741193	216509428	4	43451											
NOTCH2	4853	broad.mit.edu	37	1	120539779	120539780	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr1:120539779_120539780insG	ENST00000256646.2	-	4	810_811	c.591_592insC	c.(589-594)acctgcfs	p.C198fs	NOTCH2_ENST00000602566.1_Frame_Shift_Ins_p.C159fs	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	198	EGF-like 5; 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)		AGGTTGAGGCAGGTGCCACCAT	0.559			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome																														Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	0																																										SO:0001589	frameshift_variant	4853	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	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.592dupC	1.37:g.120539781_120539781dupG	ENSP00000256646:p.Cys198fs		Q5T3X7|Q99734|Q9H240	Frame_Shift_Ins	INS	ENST00000256646.2	37	CCDS908.1																																																																																				0.559	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		G	120539780	-	G	120539779	7	5	743	1	0	1	1	0	0	0	0	0	10550	188	7	0	6947	0	NOTCH2	1	120539779	Frame_Shift_Ins	INS	-	TCGA-KN-8437-01A-11D-2310-10	87798586	120539779	128710842	5	43452											
INTS3	65123	ucsc.edu	37	1	153735835	153735835	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr1:153735835G>T	ENST00000318967.2	+	16	2331	c.1763G>T	c.(1762-1764)gGg>gTg	p.G588V	INTS3_ENST00000456435.1_Missense_Mutation_p.G382V|INTS3_ENST00000435409.2_Missense_Mutation_p.G588V|INTS3_ENST00000512605.1_Missense_Mutation_p.G382V|INTS3_ENST00000476843.1_3'UTR	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	589					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)			CTACAGAAGGGGAGGTGGGTA	0.527																																																0													110	106	107					1																	153735835		2203	4300	6503	SO:0001583	missense	65123			BX640950	CCDS1052.1	1q21.3	2012-03-16	2006-03-15	2006-03-15	ENSG00000143624	ENSG00000143624			26153	protein-coding gene	gene with protein product	"sensor of single-strand DNA complex subunit A"	611347	"chromosome 1 open reading frame 60"	C1orf60		16239144	Standard	NM_023015		Approved	FLJ21919, INT3, SOSS-A	uc001fct.3	Q68E01	OTTHUMG00000037089	ENST00000318967.2:c.1763G>T	1.37:g.153735835G>T	ENSP00000318641:p.Gly588Val		A8K1W0|B4DQC8|B4E3U9|D3DV57|Q4G0E5|Q5VUQ5|Q5VUQ6|Q5VUR0|Q5VUR1|Q68DJ1|Q69YR5|Q6AI57|Q6DKG7|Q6MZQ4|Q6MZZ9|Q8NC46|Q8TB23|Q9H6S9	Missense_Mutation	SNP	ENST00000318967.2	37	CCDS1052.1	.	.	.	.	.	.	.	.	.	.	G	11.44	1.638801	0.29157	.	.	ENSG00000143624	ENST00000318967;ENST00000456435;ENST00000435409;ENST00000512605	.	.	.	5.06	4.15	0.48705	.	0.135836	0.48767	D	0.000171	T	0.19087	0.0458	N	0.14661	0.345	0.58432	D	0.999999	B;B;B	0.26809	0.16;0.047;0.032	B;B;B	0.33799	0.17;0.017;0.037	T	0.06881	-1.0802	9	0.31617	T	0.26	.	7.6135	0.28144	0.1861:0.0:0.8139:0.0	.	382;589;588	Q68E01-3;Q68E01;Q68E01-2	.;INT3_HUMAN;.	V	588;382;588;382	.	ENSP00000318641:G588V	G	+	2	0	INTS3	152002459	1.000000	0.71417	0.958000	0.39756	0.847000	0.48162	4.681000	0.61663	1.361000	0.45981	0.561000	0.74099	GGG		0.527	INTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090045.2	NM_023015		T	153735835	G	T	153735835	3	4	743	1	0	0	0	0	1	0	0	0	7781	1232	43	4	1825	4	INTS3	1	153735835	Missense_Mutation	SNP	G	TCGA-KN-8437-01A-11D-2310-10	33196056	153735835	95514786	6	43453											
C2orf56	55471	broad.mit.edu	37	2	37473258	37473258	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr2:37473258T>C	ENST00000002125.4	+	8	896	c.856T>C	c.(856-858)Tct>Cct	p.S286P	NDUFAF7_ENST00000336237.6_Missense_Mutation_p.S188P|NDUFAF7_ENST00000483999.1_3'UTR	NM_144736.4	NP_653337.1	Q7L592	NDUF7_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 7	286					methylation (GO:0032259)|mitochondrial respiratory chain complex I assembly (GO:0032981)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|methyltransferase activity (GO:0008168)										CGAGGAACTTTCTCAACGCAT	0.413																																																0													210	167	181					2																	37473258		2203	4300	6503	SO:0001583	missense	55471				CCDS1788.1, CCDS42673.1	2p22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000003509	ENSG00000003509		"Mitochondrial respiratory chain complex assembly factors"	28816	protein-coding gene	gene with protein product	"mitochondrial dysfunction protein A homolog"	615898	"chromosome 2 open reading frame 56"	C2orf56			Standard	NM_144736		Approved	PRO1853, MidA	uc002rqa.4	Q7L592	OTTHUMG00000128468	ENST00000002125.4:c.856T>C	2.37:g.37473258T>C	ENSP00000002125:p.Ser286Pro		Q7Z399|Q9P1G3	Missense_Mutation	SNP	ENST00000002125.4	37	CCDS1788.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.082869	0.76642	.	.	ENSG00000003509	ENST00000002125;ENST00000336237;ENST00000431821;ENST00000439218	T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13	5.67	4.5	0.54988	.	0.102077	0.64402	D	0.000004	D	0.87704	0.6244	M	0.83774	2.66	0.43263	D	0.995204	P;D;D;P	0.69078	0.933;0.997;0.997;0.933	P;D;D;P	0.70227	0.756;0.968;0.947;0.824	D	0.88629	0.3168	10	0.87932	D	0	-13.3875	12.8745	0.57982	0.0:0.0:0.5259:0.474	.	259;215;188;286	E7EUC2;B4DQY3;Q7L592-2;Q7L592	.;.;.;MIDA_HUMAN	P	286;188;207;244	ENSP00000002125:S286P;ENSP00000337431:S188P;ENSP00000399207:S207P;ENSP00000394436:S244P	ENSP00000002125:S286P	S	+	1	0	C2orf56	37326762	1.000000	0.71417	0.975000	0.42487	0.654000	0.38779	1.544000	0.36158	0.911000	0.36747	0.533000	0.62120	TCT		0.413	NDUFAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250267.1	NM_144736		C	37473258	T	C	37473258	3	2	743	1	0	0	0	0	1	0	0	0	2179	1783	62	3	886	3	C2orf56	2	37473258	Missense_Mutation	SNP	T	TCGA-KN-8437-01A-11D-2310-10		37473258	205726115	7	43454											
CCDC74A	90557	broad.mit.edu	37	2	132290264	132290265	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr2:132290264_132290265insC	ENST00000295171.6	+	5	924_925	c.786_787insC	c.(787-789)cccfs	p.P263fs	CCDC74A_ENST00000467992.2_3'UTR|CCDC74A_ENST00000409856.3_Frame_Shift_Ins_p.P197fs	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	263										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						CAATGATCCTGCCCCTTCCCCT	0.624																																																0																																										SO:0001589	frameshift_variant	90557				CCDS2167.1, CCDS58732.1, CCDS74578.1	2q21.1	2008-02-05		2006-02-16	ENSG00000163040	ENSG00000163040			25197	protein-coding gene	gene with protein product						12477932	Standard	NM_138770		Approved	FLJ40345	uc002ttb.4	Q96AQ1	OTTHUMG00000131667	ENST00000295171.6:c.790dupC	2.37:g.132290268_132290268dupC	ENSP00000295171:p.Pro263fs		Q6P4I5	Frame_Shift_Ins	INS	ENST00000295171.6	37	CCDS2167.1																																																																																				0.624	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254570.2	NM_138770		C	132290265	-	C	132290264	7	5	743	1	0	1	1	0	0	0	0	0	2849	1306	46	0	804	0	CCDC74A	2	132290264	Frame_Shift_Ins	INS	-	TCGA-KN-8437-01A-11D-2310-10	94817006	132290264	110909109	8	43455											
DNAJC13	23317	ucsc.edu	37	3	132193881	132193881	+	Silent	SNP	A	A	G			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr3:132193881A>G	ENST00000260818.6	+	22	2645	c.2397A>G	c.(2395-2397)agA>agG	p.R799R		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	799					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						ATATTGACAGAGAACTTGGAA	0.343																																																0													114	123	120					3																	132193881		2203	4300	6503	SO:0001819	synonymous_variant	23317			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.2397A>G	3.37:g.132193881A>G			Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Silent	SNP	ENST00000260818.6	37	CCDS33857.1																																																																																				0.343	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		G	132193881	A	G	132193881	2	3	743	1	0	0	0	0	0	0	0	1	4634	301	11	3		3	DNAJC13	3	132193881	Silent	SNP	A	TCGA-KN-8437-01A-11D-2310-10		132193881	65828549	9	43456											
CLRN1	7401	broad.mit.edu	37	3	150659389	150659389	+	Missense_Mutation	SNP	T	T	A			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr3:150659389T>A	ENST00000327047.1	-	2	703	c.413A>T	c.(412-414)tAc>tTc	p.Y138F	RP11-166N6.2_ENST00000469268.1_RNA|RP11-166N6.3_ENST00000569170.1_Missense_Mutation_p.T48S|CLRN1_ENST00000328863.4_Missense_Mutation_p.Y138F|CLRN1_ENST00000295911.2_Missense_Mutation_p.Y62F|CLRN1-AS1_ENST00000476886.1_RNA	NM_174878.2	NP_777367.1	P58418	CLRN1_HUMAN	clarin 1	138					actin filament organization (GO:0007015)|auditory receptor cell stereocilium organization (GO:0060088)|cell motility (GO:0048870)|equilibrioception (GO:0050957)|photoreceptor cell maintenance (GO:0045494)|positive regulation of lamellipodium assembly (GO:0010592)|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)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GCTCAAAAGGTACAGCCCTAG	0.388																																																0													79	80	79					3																	150659389		2203	4300	6503	SO:0001583	missense	7401			AF388366	CCDS3153.1, CCDS35492.1, CCDS56285.1	3q25.1	2014-09-17	2006-11-23	2006-11-23	ENSG00000163646	ENSG00000163646			12605	protein-coding gene	gene with protein product		606397	"Usher syndrome 3A"	USH3, USH3A, RP61		7711740, 8975700	Standard	NM_052995		Approved		uc021xfr.1	P58418	OTTHUMG00000140368	ENST00000327047.1:c.413A>T	3.37:g.150659389T>A	ENSP00000322280:p.Tyr138Phe		D3DNJ3|E1ACU9|Q8N6A9	Missense_Mutation	SNP	ENST00000327047.1	37	CCDS3153.1	.	.	.	.	.	.	.	.	.	.	T	17.40	3.381113	0.61845	.	.	ENSG00000163646	ENST00000295911;ENST00000327047;ENST00000328863;ENST00000468836;ENST00000485607	D;D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56;-1.56	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	D	0.89767	0.6810	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.994	D	0.90338	0.4357	10	0.54805	T	0.06	-18.5149	15.1742	0.72899	0.0:0.0:0.0:1.0	.	138;62	P58418;P58418-1	CLRN1_HUMAN;.	F	62;138;138;62;26	ENSP00000295911:Y62F;ENSP00000322280:Y138F;ENSP00000329158:Y138F;ENSP00000419892:Y62F;ENSP00000419244:Y26F	ENSP00000295911:Y62F	Y	-	2	0	CLRN1	152142079	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	6.852000	0.75430	2.041000	0.60428	0.533000	0.62120	TAC		0.388	CLRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277060.1			A	150659389	T	A	150659389	3	1	743	1	0	0	0	0	1	0	0	0	3559	1638	57	5	318	5	CLRN1	3	150659389	Missense_Mutation	SNP	T	TCGA-KN-8437-01A-11D-2310-10	18465508	150659389	47363041	10	43457											
G3BP2	9908	ucsc.edu	37	4	76573848	76573848	+	Silent	SNP	A	A	G			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr4:76573848A>G	ENST00000359707.4	-	9	1688	c.903T>C	c.(901-903)ggT>ggC	p.G301G	G3BP2_ENST00000395719.3_Silent_p.G301G|G3BP2_ENST00000357854.3_Silent_p.G268G	NM_203505.2	NP_987101.1	Q9UN86	G3BP2_HUMAN	GTPase activating protein (SH3 domain) binding protein 2	301					cytoplasmic sequestering of NF-kappaB (GO:0007253)|mRNA transport (GO:0051028)|Ras protein signal transduction (GO:0007265)	cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|receptor signaling complex scaffold activity (GO:0030159)			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	27			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TAGGAGGAAAACCAGGTCGTT	0.403																																																0													93	84	87					4																	76573848		2203	4300	6503	SO:0001819	synonymous_variant	9908			AB014560	CCDS3571.1, CCDS3572.1	4q21.1	2013-02-12	2006-11-01		ENSG00000138757	ENSG00000138757		"RNA binding motif (RRM) containing"	30291	protein-coding gene	gene with protein product	"Ras-GTPase activating protein SH3 domain-binding protein 2"					9734811, 9575347	Standard	NM_203504		Approved	KIAA0660	uc003his.3	Q9UN86	OTTHUMG00000130097	ENST00000359707.4:c.903T>C	4.37:g.76573848A>G			A8K6X1|O60606|O75149|Q9UPA1	Silent	SNP	ENST00000359707.4	37	CCDS3571.1																																																																																				0.403	G3BP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252399.2	NM_012297		G	76573848	A	G	76573848	2	3	743	1	0	0	0	0	0	0	0	1	6144	30	2	3		3	G3BP2	4	76573848	Silent	SNP	A	TCGA-KN-8437-01A-11D-2310-10		76573848	114580428	11	43458											
C5orf42	65250	ucsc.edu;mdanderson.org	37	5	37221454	37221454	+	Silent	SNP	T	T	A			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr5:37221454T>A	ENST00000508244.1	-	14	2811	c.2718A>T	c.(2716-2718)ctA>ctT	p.L906L	C5orf42_ENST00000274258.7_5'UTR|C5orf42_ENST00000425232.2_Silent_p.L906L			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	906						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)			CTTTTACAGGTAGTTGGGACC	0.363																																																0													119	93	101					5																	37221454		692	1591	2283	SO:0001819	synonymous_variant	65250				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.2718A>T	5.37:g.37221454T>A			A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Silent	SNP	ENST00000508244.1	37	CCDS34146.2																																																																																				0.363	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		A	37221454	T	A	37221454	2	1	743	1	0	0	0	0	0	0	0	1	2303	1625	57	5		5	C5orf42	5	37221454	Silent	SNP	T	TCGA-KN-8437-01A-11D-2310-10		37221454	143693806	12	43459											
PAIP2	51247	ucsc.edu	37	5	138700258	138700258	+	Silent	SNP	A	A	G			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr5:138700258A>G	ENST00000394795.2	+	3	1135	c.144A>G	c.(142-144)gaA>gaG	p.E48E	PAIP2_ENST00000510080.1_Silent_p.E48E|PAIP2_ENST00000511706.1_Intron|CTB-43P18.1_ENST00000503553.3_RNA|PAIP2_ENST00000511381.1_3'UTR|PAIP2_ENST00000265192.4_Silent_p.E48E			Q9BPZ3	PAIP2_HUMAN	poly(A) binding protein interacting protein 2	48	Glu-rich.|PABPC1-interacting motif-1 (PAM1).				memory (GO:0007613)|negative regulation of translational initiation (GO:0045947)|regulation of long-term synaptic potentiation (GO:1900271)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mRNA binding (GO:0003729)|translation repressor activity (GO:0030371)			kidney(1)|large_intestine(2)|lung(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TCTAGATAGAAGAGGAGTTAT	0.353																																																0													57	58	57					5																	138700258		2203	4300	6503	SO:0001819	synonymous_variant	51247			AF151052	CCDS4211.1	5q32	2008-02-05			ENSG00000120727	ENSG00000120727			17970	protein-coding gene	gene with protein product		605604				11172725, 16804161	Standard	NM_016480		Approved	PAIP2A	uc003led.3	Q9BPZ3	OTTHUMG00000129227	ENST00000394795.2:c.144A>G	5.37:g.138700258A>G			B2RBI1|D3DQC6|Q49A06|Q9H0Y5|Q9P0Q8	Silent	SNP	ENST00000394795.2	37	CCDS4211.1																																																																																				0.353	PAIP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373002.1	NM_016480		G	138700258	A	G	138700258	2	3	743	1	0	0	0	0	0	0	0	1	11399	69	3	3		3	PAIP2	5	138700258	Silent	SNP	A	TCGA-KN-8437-01A-11D-2310-10	101478804	138700258	42215002	13	43460											
PRSS35	167681	broad.mit.edu	37	6	84233685	84233685	+	Silent	SNP	G	G	A			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr6:84233685G>A	ENST00000369700.3	+	2	702	c.525G>A	c.(523-525)aaG>aaA	p.K175K	PRSS35_ENST00000536636.1_Silent_p.K175K	NM_153362.2	NP_699193.2	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	175	Peptidase S1.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	serine-type endopeptidase activity (GO:0004252)	p.K175N(1)		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)		ATGATGGAAAGGACTATGTCA	0.478																																																1	Substitution - Missense(1)	large_intestine(1)											100	104	103					6																	84233685		2203	4300	6503	SO:0001819	synonymous_variant	167681			BC037170	CCDS4999.1	6q14.2	2010-05-12	2004-07-09	2004-07-09	ENSG00000146250	ENSG00000146250		"Serine peptidases / Serine peptidases"	21387	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 158"	C6orf158			Standard	NM_153362		Approved	MGC46520, dJ223E3.1	uc003pjz.3	Q8N3Z0	OTTHUMG00000015113	ENST00000369700.3:c.525G>A	6.37:g.84233685G>A			A8K7B3|Q9BQP6	Silent	SNP	ENST00000369700.3	37	CCDS4999.1																																																																																				0.478	PRSS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041352.1	NM_153362		A	84233685	G	A	84233685	2	1	743	1	0	0	0	0	0	0	0	1	12629	991	35	2		2	PRSS35	6	84233685	Silent	SNP	G	TCGA-KN-8437-01A-11D-2310-10		84233685	86881382	14	43461											
IGF2R	3482	broad.mit.edu	37	6	160485473	160485473	+	Missense_Mutation	SNP	A	A	T			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr6:160485473A>T	ENST00000356956.1	+	28	4075	c.3927A>T	c.(3925-3927)ttA>ttT	p.L1309F		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1309					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	ATGGCTTGTTAAAAATGAACT	0.483																																																0													111	122	118					6																	160485473		2203	4300	6503	SO:0001583	missense	3482			J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"CD molecules"	5467	protein-coding gene	gene with protein product	"cation-independent mannose-6 phosphate receptor"	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.3927A>T	6.37:g.160485473A>T	ENSP00000349437:p.Leu1309Phe		Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	A	15.47	2.841715	0.51057	.	.	ENSG00000197081	ENST00000356956	T	0.05199	3.48	5.48	2.02	0.26589	Mannose-6-phosphate receptor, binding (1);	0.132235	0.47455	D	0.000222	T	0.08582	0.0213	M	0.86028	2.79	0.44234	D	0.997074	D	0.58268	0.982	P	0.60473	0.875	T	0.11372	-1.0590	10	0.41790	T	0.15	-19.3313	0.1485	0.00090	0.2717:0.1596:0.2555:0.3131	.	1309	P11717	MPRI_HUMAN	F	1309	ENSP00000349437:L1309F	ENSP00000349437:L1309F	L	+	3	2	IGF2R	160405463	0.998000	0.40836	0.943000	0.38184	0.408000	0.30992	0.535000	0.23114	0.516000	0.28340	0.533000	0.62120	TTA		0.483	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		T	160485473	A	T	160485473	3	4	743	1	0	0	0	0	1	0	0	0	7578	359	13	5	4037	5	IGF2R	6	160485473	Missense_Mutation	SNP	A	TCGA-KN-8437-01A-11D-2310-10	76251788	160485473	10629594	15	43462											
KIAA0415	9907	mdanderson.org	37	7	4825307	4825307	+	Missense_Mutation	SNP	T	T	A	rs11772411	byFrequency	TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr7:4825307T>A	ENST00000348624.4	+	9	1218	c.1124T>A	c.(1123-1125)cTg>cAg	p.L375Q	MIR4656_ENST00000579503.1_RNA|AP5Z1_ENST00000401897.1_Missense_Mutation_p.L375Q	NM_014855.2	NP_055670.1	O43299	AP5Z1_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	375					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)											CACTTCTTCCTGAGCCACGGT	0.592													T|||	359	0.0716853	0.0091	0.0317	5008	,	,		13424	0.0506		0.0676	False		,,,				2504	0.2106															0								T	GLN/LEU	72,4098		0,72,2013	6	7	6		1124	5.6	0.9	7	dbSNP_120	6	528,7844		17,494,3675	no	missense	KIAA0415	NM_014855.2	113	17,566,5688	AA,AT,TT		6.3067,1.7266,4.7839	probably-damaging	375/808	4825307	600,11942	2085	4186	6271	SO:0001583	missense	9907			AB007875	CCDS47528.1	7p22.1	2012-03-20	2012-03-20	2012-03-20	ENSG00000242802	ENSG00000242802			22197	protein-coding gene	gene with protein product		613653	"KIAA0415"	KIAA0415		20613862, 22022230	Standard	NM_014855		Approved	SPG48, zeta	uc003sne.3	O43299	OTTHUMG00000151754	ENST00000348624.4:c.1124T>A	7.37:g.4825307T>A	ENSP00000297562:p.Leu375Gln		Q8N3X2|Q96H80	Missense_Mutation	SNP	ENST00000348624.4	37	CCDS47528.1	98	0.04487179487179487	7	0.014227642276422764	15	0.04143646408839779	30	0.05244755244755245	46	0.06068601583113457	t	16.98	3.271083	0.59540	0.017266	0.063067	ENSG00000242802	ENST00000348624;ENST00000401897	T;T	0.63417	-0.01;-0.04	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000002	T	0.36496	0.0969	M	0.83483	2.645	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.69457	-0.5140	10	0.87932	D	0	.	13.5539	0.61749	0.0:0.0:0.0:1.0	rs11772411	375	O43299	K0415_HUMAN	Q	375	ENSP00000297562:L375Q;ENSP00000384980:L375Q	ENSP00000297562:L375Q	L	+	2	0	KIAA0415	4791833	1.000000	0.71417	0.879000	0.34478	0.057000	0.15508	7.654000	0.83653	2.141000	0.66446	0.454000	0.30748	CTG		0.592	AP5Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323771.1			A	4825307	T	A	4825307	3	1	743	1	0	0	0	0	1	0	0	0	8177	1580	55	5	1158	5	KIAA0415	7	4825307	Missense_Mutation	SNP	T	TCGA-KN-8437-01A-11D-2310-10		4825307	154313356	16	43463	424	2									
KIAA0415	9907	mdanderson.org	37	7	4825314	4825314	+	Splice_Site	SNP	C	C	T	rs11768079	byFrequency	TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr7:4825314C>T	ENST00000348624.4	+	9	1225	c.1131C>T	c.(1129-1131)caC>caT	p.H377H	MIR4656_ENST00000579503.1_RNA|AP5Z1_ENST00000401897.1_Splice_Site_p.H377H	NM_014855.2	NP_055670.1	O43299	AP5Z1_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	377					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)											TCCTGAGCCACGGTGAGCCCA	0.582													C|||	359	0.0716853	0.0091	0.0317	5008	,	,		13363	0.0506		0.0676	False		,,,				2504	0.2106															0								C		75,4103		0,75,2014	6	6	6		1131	-0.4	0.9	7	dbSNP_120	6	532,7858		19,494,3682	yes	coding-synonymous-near-splice	KIAA0415	NM_014855.2		19,569,5696	TT,TC,CC		6.3409,1.7951,4.8297		377/808	4825314	607,11961	2089	4195	6284	SO:0001630	splice_region_variant	9907			AB007875	CCDS47528.1	7p22.1	2012-03-20	2012-03-20	2012-03-20	ENSG00000242802	ENSG00000242802			22197	protein-coding gene	gene with protein product		613653	"KIAA0415"	KIAA0415		20613862, 22022230	Standard	NM_014855		Approved	SPG48, zeta	uc003sne.3	O43299	OTTHUMG00000151754	ENST00000348624.4:c.1132+1C>T	7.37:g.4825314C>T			Q8N3X2|Q96H80	Silent	SNP	ENST00000348624.4	37	CCDS47528.1																																																																																				0.582	AP5Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323771.1		Silent	T	4825314	C	T	4825314	5	4	743	1	0	0	0	0	0	0	1	0	8177	550	19	1	1165	1	KIAA0415	7	4825314	Splice_Site	SNP	C	TCGA-KN-8437-01A-11D-2310-10	7	4825314	154313349	17	43464	424	2									
SPDYE6	0	broad.mit.edu	37	7	101988975	101988976	+	IGR	DEL	TG	TG	-			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	TG	TG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr7:101988975_101988976delTG								Y_RNA (11593 upstream) : PRKRIP1 (15367 downstream)																							CGGTTCTTCCTGGCCCTCGGGT	0.545																																																0																																										SO:0001628	intergenic_variant	729597																															7.37:g.101988975_101988976delTG				Frame_Shift_Del	DEL		37																																																																																				0	0.545									-	101988976	TG	-	101988975	6	5	743	0	1	1	0	1	0	0	0	0	15038	1579	55	0		0	SPDYE6	7	101988975	IGR	DEL	TG	TCGA-KN-8437-01A-11D-2310-10	97163661	101988975	57149688	18	43465											
CCNE2	9134	hgsc.bcm.edu	37	8	95897417	95897417	+	Missense_Mutation	SNP	C	C	T	rs549362026		TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr8:95897417C>T	ENST00000520509.1	-	9	961	c.709G>A	c.(709-711)Gaa>Aaa	p.E237K	CCNE2_ENST00000523476.1_5'Flank|CCNE2_ENST00000308108.4_Missense_Mutation_p.E237K|CCNE2_ENST00000396133.3_Missense_Mutation_p.E237K|RP11-347C18.5_ENST00000605911.1_RNA			O96020	CCNE2_HUMAN	cyclin E2	237					cell cycle checkpoint (GO:0000075)|cell division (GO:0051301)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					GGACAAAGTTCCCATTTTAAA	0.358													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18526	0.0		0.0	False		,,,				2504	0.0															0													70	74	73					8																	95897417		2203	4297	6500	SO:0001583	missense	9134			AF091433	CCDS6264.1	8q22.1	2005-10-18			ENSG00000175305	ENSG00000175305			1590	protein-coding gene	gene with protein product		603775				9840927, 9840943	Standard	NM_057749		Approved	CYCE2	uc003yhc.3	O96020	OTTHUMG00000164696	ENST00000520509.1:c.709G>A	8.37:g.95897417C>T	ENSP00000429089:p.Glu237Lys		O95439	Missense_Mutation	SNP	ENST00000520509.1	37	CCDS6264.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.175750	0.57692	.	.	ENSG00000175305	ENST00000520509;ENST00000308108;ENST00000542725;ENST00000396133	T;T;T	0.11063	2.81;2.81;2.81	5.58	4.68	0.58851	Cyclin, N-terminal (1);Cyclin-like (2);	0.134136	0.64402	D	0.000002	T	0.15609	0.0376	L	0.39397	1.21	0.58432	D	0.999991	B;P	0.50528	0.425;0.936	B;P	0.50082	0.159;0.63	T	0.04413	-1.0953	10	0.22109	T	0.4	.	16.0982	0.81144	0.0:0.8658:0.1342:0.0	.	237;237	Q8WUE3;O96020	.;CCNE2_HUMAN	K	237;237;129;237	ENSP00000429089:E237K;ENSP00000309181:E237K;ENSP00000379437:E237K	ENSP00000309181:E237K	E	-	1	0	CCNE2	95966593	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.803000	0.47924	1.289000	0.44618	0.650000	0.86243	GAA		0.358	CCNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379808.1	NM_057749, NM_004702		T	95897417	C	T	95897417	3	4	743	1	0	0	0	0	1	0	0	0	2923	864	30	2	521	2	CCNE2	8	95897417	Missense_Mutation	SNP	C	TCGA-KN-8437-01A-11D-2310-10		95897417	50466605	19	43466											
CBWD6	644019	broad.mit.edu	37	9	69256826	69256827	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr9:69256826_69256827insC	ENST00000377457.5	-	3	409_410	c.304_305insG	c.(304-306)gaafs	p.E102fs	CBWD6_ENST00000382399.4_Frame_Shift_Ins_p.E102fs|CBWD6_ENST00000377449.1_Frame_Shift_Ins_p.E66fs|CBWD6_ENST00000377441.1_Frame_Shift_Ins_p.E102fs	NM_001085457.1	NP_001078926.1	Q4V339	CBWD6_HUMAN	COBW domain containing 6	102							ATP binding (GO:0005524)			lung(4)	4						GTTTCTAAGTTCCAGCCACTCT	0.376																																																0																																										SO:0001589	frameshift_variant	644019				CCDS43827.1	9q13	2006-06-30			ENSG00000204790	ENSG00000204790			31978	protein-coding gene	gene with protein product							Standard	NM_001085457		Approved	OTTHUMG00000066820	uc004afj.4	Q4V339	OTTHUMG00000066820	ENST00000377457.5:c.305dupG	9.37:g.69256828_69256828dupC	ENSP00000366677:p.Glu102fs			Frame_Shift_Ins	INS	ENST00000377457.5	37	CCDS43827.1																																																																																				0.376	CBWD6-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143172.2	XM_928822		C	69256827	-	C	69256826	7	5	743	1	0	1	1	0	0	0	0	0	2718	1783	62	0	934	0	CBWD6	9	69256826	Frame_Shift_Ins	INS	-	TCGA-KN-8437-01A-11D-2310-10		69256826	71956605	20	43467											
KIAA1274	27143	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	10	72293731	72293731	+	Silent	SNP	C	C	G			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr10:72293731C>G	ENST00000263563.6	+	8	1192	c.924C>G	c.(922-924)ctC>ctG	p.L308L		NM_014431.2	NP_055246.2	Q9ULE6	PALD_HUMAN	phosphatase domain containing, paladin 1	308						cytosol (GO:0005829)											CCCCAGCCCTCGTCTTCAGCT	0.657																																																0													36	33	34					10																	72293731		2203	4300	6503	SO:0001819	synonymous_variant	27143			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.924C>G	10.37:g.72293731C>G			B2RMS1|B9EGC6|Q5JTK7|Q5JTK8	Silent	SNP	ENST00000263563.6	37	CCDS31215.1																																																																																				0.657	PALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048515.2	NM_014431		G	72293731	C	G	72293731	2	3	743	1	0	0	0	0	0	0	0	1	8222	871	31	4		4	KIAA1274	10	72293731	Silent	SNP	C	TCGA-KN-8437-01A-11D-2310-10		72293731	63241016	21	43468											
DDIT4	54541	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	10	74034518	74034518	+	Missense_Mutation	SNP	C	C	A			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr10:74034518C>A	ENST00000307365.3	+	3	472	c.271C>A	c.(271-273)Cac>Aac	p.H91N	RP11-442H21.2_ENST00000491934.2_RNA	NM_019058.2	NP_061931.1	Q9NX09	DDIT4_HUMAN	DNA-damage-inducible transcript 4	91					brain development (GO:0007420)|cell proliferation (GO:0008283)|defense response to virus (GO:0051607)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of glycolytic process (GO:0045820)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of TOR signaling (GO:0032007)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron death (GO:1901216)|protein complex disassembly (GO:0043241)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|mitochondrion (GO:0005739)				cervix(1)|endometrium(2)|lung(5)|pancreas(1)|prostate(2)|urinary_tract(1)	12						TGAGGATGAACACTTGTGTGC	0.617											OREG0020262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													124	124	124					10																	74034518		2203	4300	6503	SO:0001583	missense	54541			AK000507	CCDS7315.1	10q22.1	2008-05-14			ENSG00000168209	ENSG00000168209			24944	protein-coding gene	gene with protein product	"HIF-1 responsive RTP801"	607729				11884613	Standard	NM_019058		Approved	RTP801, FLJ20500, REDD-1, REDD1, Dig2	uc001jsx.1	Q9NX09	OTTHUMG00000018435	ENST00000307365.3:c.271C>A	10.37:g.74034518C>A	ENSP00000307305:p.His91Asn	1149	Q9H0S3	Missense_Mutation	SNP	ENST00000307365.3	37	CCDS7315.1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.890774	0.33348	.	.	ENSG00000168209	ENST00000307365	T	0.41400	1.0	5.08	5.08	0.68730	.	0.414258	0.28790	N	0.014133	T	0.27731	0.0682	N	0.14661	0.345	0.33043	D	0.531739	B	0.26744	0.158	B	0.24394	0.053	T	0.20174	-1.0283	10	0.15066	T	0.55	-20.3523	18.1098	0.89532	0.0:1.0:0.0:0.0	.	91	Q9NX09	DDIT4_HUMAN	N	91	ENSP00000307305:H91N	ENSP00000307305:H91N	H	+	1	0	DDIT4	73704524	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	3.432000	0.52824	2.359000	0.80004	0.561000	0.74099	CAC		0.617	DDIT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048577.1	NM_019058		A	74034518	C	A	74034518	3	1	743	1	0	0	0	0	1	0	0	0	4333	478	17	4	277	4	DDIT4	10	74034518	Missense_Mutation	SNP	C	TCGA-KN-8437-01A-11D-2310-10	1740787	74034518	61500229	22	43469											
OTUB1	55611	bcgsc.ca	37	11	63756163	63756163	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr11:63756163A>G	ENST00000538426.1	+	3	202	c.158A>G	c.(157-159)gAg>gGg	p.E53G	OTUB1_ENST00000541478.1_Intron|OTUB1_ENST00000428192.2_Missense_Mutation_p.E53G|OTUB1_ENST00000543988.1_Missense_Mutation_p.E23G|OTUB1_ENST00000536443.1_3'UTR|OTUB1_ENST00000535715.1_Missense_Mutation_p.E53G|OTUB1_ENST00000422031.2_Missense_Mutation_p.E90G|OTUB1_ENST00000543004.1_Missense_Mutation_p.E62G	NM_017670.2	NP_060140.2	Q96FW1	OTUB1_HUMAN	OTU deubiquitinase, ubiquitin aldehyde binding 1	53					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						GAGCGGCTGGAGCTCTCGGTC	0.562																																																0													110	111	111					11																	63756163		2201	4297	6498	SO:0001583	missense	55611			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.158A>G	11.37:g.63756163A>G	ENSP00000444357:p.Glu53Gly		Q32Q78|Q96II3|Q9NXQ4|Q9P0B8	Missense_Mutation	SNP	ENST00000538426.1	37	CCDS8055.1	.	.	.	.	.	.	.	.	.	.	A	18.28	3.589609	0.66105	.	.	ENSG00000167770	ENST00000535715;ENST00000428192;ENST00000422031;ENST00000538426;ENST00000543004;ENST00000543988	T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89	5.49	4.35	0.52113	.	.	.	.	.	T	0.37433	0.1003	L	0.58669	1.825	0.40960	D	0.984618	P;P	0.38473	0.633;0.633	B;B	0.35971	0.215;0.162	T	0.29212	-1.0019	9	0.54805	T	0.06	.	9.2666	0.37645	0.916:0.0:0.084:0.0	.	90;53	B4DPD5;Q96FW1	.;OTUB1_HUMAN	G	53;53;90;53;62;23	ENSP00000440211:E53G;ENSP00000402551:E53G;ENSP00000416973:E90G;ENSP00000444357:E53G;ENSP00000437453:E62G;ENSP00000441328:E23G	ENSP00000416973:E90G	E	+	2	0	OTUB1	63512739	1.000000	0.71417	0.993000	0.49108	0.983000	0.72400	6.254000	0.72460	1.024000	0.39682	0.482000	0.46254	GAG		0.562	OTUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396277.1	NM_017670		G	63756163	A	G	63756163	3	3	743	1	0	0	0	0	1	0	0	0	11313	304	11	3	168	3	OTUB1	11	63756163	Missense_Mutation	SNP	A	TCGA-KN-8437-01A-11D-2310-10		63756163	71250353	23	43470											
SHANK2	22941	broad.mit.edu	37	11	70824380	70824381	+	In_Frame_Ins	INS	-	-	TTT			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr11:70824380_70824381insTTT	ENST00000338508.4	-	3	440_441	c.441_442insAAA	c.(439-444)caagcc>caaAAAgcc	p.147_148QA>QKA				Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	0	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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)			TCGAGACTGGCTTGTTTATACA	0.465																																																0																																										SO:0001652	inframe_insertion	22941			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	ENST00000338508.4:c.441_442insAAA	11.37:g.70824380_70824381insTTT	ENSP00000345193:p.Gln147_Ala148insLys		C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	In_Frame_Ins	INS	ENST00000338508.4	37																																																																																					0.465	SHANK2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_012309		TTT	70824381	-	TTT	70824380	7	5	743	1	0	1	1	0	0	0	0	0	14271	797	28	0	5085	0	SHANK2	11	70824380	In_Frame_Ins	INS	-	TCGA-KN-8437-01A-11D-2310-10	7068217	70824380	64182136	24	43471											
ROBO3	64221	broad.mit.edu	37	11	124739923	124739924	+	Frame_Shift_Ins	INS	-	-	G	rs115272137	byFrequency	TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr11:124739923_124739924insG	ENST00000397801.1	+	4	917_918	c.725_726insG	c.(724-729)gcgggafs	p.AG242fs	ROBO3_ENST00000538940.1_Frame_Shift_Ins_p.AG220fs	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	242	Ig-like C2-type 2.				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)		TCCAACATGGCGGGAGAACGGG	0.525																																																0																																										SO:0001589	frameshift_variant	64221			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.728dupG	11.37:g.124739926_124739926dupG	ENSP00000380903:p.Ala242fs			Frame_Shift_Ins	INS	ENST00000397801.1	37	CCDS44755.1																																																																																				0.525	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663		G	124739924	-	G	124739923	7	5	743	1	0	1	1	0	0	0	0	0	13521	768	27	0	739	0	ROBO3	11	124739923	Frame_Shift_Ins	INS	-	TCGA-KN-8437-01A-11D-2310-10	53915543	124739923	10266593	25	43472											
DPPA3	359787	broad.mit.edu	37	12	7869647	7869648	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr12:7869647_7869648insA	ENST00000345088.2	+	4	571_572	c.454_455insA	c.(454-456)caafs	p.Q152fs		NM_199286.2	NP_954980.1	Q6W0C5	DPPA3_HUMAN	developmental pluripotency associated 3	152					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)		AATAGGGAATCAAGACACCAAG	0.376																																																0																																										SO:0001589	frameshift_variant	359787			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.456dupA	12.37:g.7869649_7869649dupA	ENSP00000339250:p.Gln152fs		Q0P5U3|Q6JZS6	Frame_Shift_Ins	INS	ENST00000345088.2	37	CCDS8582.1																																																																																				0.376	DPPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399718.1	NM_199286		A	7869648	-	A	7869647	7	5	743	1	0	1	1	0	0	0	0	0	4737	827	29	0	468	0	DPPA3	12	7869647	Frame_Shift_Ins	INS	-	TCGA-KN-8437-01A-11D-2310-10		7869647	125982248	26	43473											
RPAP3	79657	broad.mit.edu	37	12	48095315	48095315	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr12:48095315delT	ENST00000005386.3	-	3	341	c.226delA	c.(226-228)accfs	p.T76fs	RPAP3_ENST00000380650.4_Frame_Shift_Del_p.T76fs|RPAP3_ENST00000432584.3_5'UTR	NM_024604.2	NP_078880.2	Q9H6T3	RPAP3_HUMAN	RNA polymerase II associated protein 3	76										endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Lung SC(27;0.192)					TCCTCTCTGGTTTTTTTGGAA	0.323																																																0													181	172	175					12																	48095315		2202	4299	6501	SO:0001589	frameshift_variant	79657			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.226delA	12.37:g.48095315delT	ENSP00000005386:p.Thr76fs		B4DRW9|Q6PHR5	Frame_Shift_Del	DEL	ENST00000005386.3	37	CCDS8753.1																																																																																				0.323	RPAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405340.1	NM_024604		-	48095315	T	-	48095315	7	5	743	1	0	1	0	1	0	0	0	0	13549	1725	60	0	1831	0	RPAP3	12	48095315	Frame_Shift_Del	DEL	T	TCGA-KN-8437-01A-11D-2310-10	40225668	48095315	85756580	27	43474											
AHNAK2	113146	mdanderson.org	37	14	105410382	105410382	+	Silent	SNP	T	T	C	rs201817721	byFrequency	TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr14:105410382T>C	ENST00000333244.5	-	7	11525	c.11406A>G	c.(11404-11406)aaA>aaG	p.K3802K	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3802						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)			GCATTTTGAATTTGCTGTCTT	0.587													.|||	118	0.0235623	0.0401	0.0058	5008	,	,		20893	0.0268		0.0	False		,,,				2504	0.0348															0													252	250	250					14																	105410382		1990	4160	6150	SO:0001819	synonymous_variant	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.11406A>G	14.37:g.105410382T>C			Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																				0.587	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		C	105410382	T	C	105410382	2	2	743	1	0	0	0	0	0	0	0	1	415	1490	52	3		3	AHNAK2	14	105410382	Silent	SNP	T	TCGA-KN-8437-01A-11D-2310-10		105410382	1939158	28	43475											
LCTL	197021	ucsc.edu	37	15	66840924	66840924	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr15:66840924C>T	ENST00000341509.5	-	13	1739	c.1608G>A	c.(1606-1608)atG>atA	p.M536I	LCTL_ENST00000537670.1_Missense_Mutation_p.M363I|ZWILCH_ENST00000446801.2_3'UTR|ZWILCH_ENST00000307897.5_3'UTR	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	536					carbohydrate metabolic process (GO:0005975)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TAACCATTTGCATGTGACTTA	0.458																																																0													124	114	117					15																	66840924		2201	4299	6500	SO:0001583	missense	197021			AY358729	CCDS10220.1, CCDS61678.1	15q21.3	2008-02-05			ENSG00000188501	ENSG00000188501			15583	protein-coding gene	gene with protein product	"klotho gamma", "KL lactase phlorizin hydrolase"					12084582	Standard	NM_207338		Approved	KLPH, FLJ33279, KLG	uc002aqc.3	Q6UWM7	OTTHUMG00000133207	ENST00000341509.5:c.1608G>A	15.37:g.66840924C>T	ENSP00000343490:p.Met536Ile		B3KQY0	Missense_Mutation	SNP	ENST00000341509.5	37	CCDS10220.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.701984	0.30232	.	.	ENSG00000188501	ENST00000537670;ENST00000341509	T;T	0.30182	1.74;1.54	5.6	4.67	0.58626	.	0.082404	0.85682	N	0.000000	T	0.24851	0.0603	L	0.29908	0.895	0.58432	D	0.999997	B;B	0.12630	0.002;0.006	B;B	0.08055	0.003;0.003	T	0.02269	-1.1185	10	0.37606	T;T	0.19;0.19	-24.6251	15.4825	0.75539	0.0:0.8609:0.1391:0.0	.	363;536	B3KQY0;Q6UWM7	.;LCTL_HUMAN	I	363;536	ENSP00000445419:M363I;ENSP00000343490:M536I	ENSP00000343490:M536I;ENSP00000343490:M536I	M	-	3	0	LCTL	64627978	1.000000	0.71417	0.995000	0.50966	0.095000	0.18619	7.016000	0.76393	1.337000	0.45525	0.655000	0.94253	ATG		0.458	LCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256921.2	NM_207338		T	66840924	C	T	66840924	3	4	743	1	0	0	0	0	1	0	0	0	8696	710	25	2	99	2	LCTL	15	66840924	Missense_Mutation	SNP	C	TCGA-KN-8437-01A-11D-2310-10		66840924	35690468	29	43476											
TLE3	7090	broad.mit.edu	37	15	70386891	70386892	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr15:70386891_70386892insA	ENST00000558939.1	-	4	1590_1591	c.213_214insT	c.(211-216)ttgaacfs	p.N72fs	TLE3_ENST00000317509.8_Frame_Shift_Ins_p.N72fs|TLE3_ENST00000557997.1_Frame_Shift_Ins_p.N72fs|TLE3_ENST00000559048.1_Frame_Shift_Ins_p.N78fs|TLE3_ENST00000560589.1_Frame_Shift_Ins_p.N16fs|TLE3_ENST00000451782.2_Frame_Shift_Ins_p.N72fs|TLE3_ENST00000559574.1_5'Flank|TLE3_ENST00000560939.1_Frame_Shift_Ins_p.N78fs|TLE3_ENST00000557907.1_Frame_Shift_Ins_p.N72fs|TLE3_ENST00000539550.1_Frame_Shift_Ins_p.N6fs|TLE3_ENST00000559929.1_Frame_Shift_Ins_p.N72fs|TLE3_ENST00000559191.1_Intron|TLE3_ENST00000440567.3_Frame_Shift_Ins_p.N65fs|TLE3_ENST00000442299.2_Frame_Shift_Ins_p.N72fs|TLE3_ENST00000558379.1_Frame_Shift_Ins_p.N72fs|TLE3_ENST00000558201.1_Frame_Shift_Ins_p.N78fs	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	72	Gln-rich.				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						ATTTCAATGTTCAAGCCATAGG	0.287																																																0																																										SO:0001589	frameshift_variant	7090			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.213_214insT	15.37:g.70386891_70386892insA	ENSP00000452871:p.Asn72fs		B4DPT0|E9PD64|F8W964|Q6PI57|Q8IVV6|Q8WVR2|Q9HCM5	Nonsense_Mutation	INS	ENST00000558939.1	37	CCDS45293.1																																																																																				0.287	TLE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416913.1	NM_005078		A	70386892	-	A	70386891	7	5	743	1	0	1	1	0	0	0	0	0	15945	1783	62	0	2172	0	TLE3	15	70386891	Frame_Shift_Ins	INS	-	TCGA-KN-8437-01A-11D-2310-10	3545967	70386891	32144501	30	43477											
CLUAP1	23059	hgsc.bcm.edu	37	16	3586166	3586166	+	Silent	SNP	C	C	T	rs377189683		TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr16:3586166C>T	ENST00000576634.1	+	12	1281	c.1137C>T	c.(1135-1137)gaC>gaT	p.D379D	NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000301749.7_RNA|CLUAP1_ENST00000417763.2_Silent_p.D213D|NLRC3_ENST00000419350.2_RNA|CLUAP1_ENST00000341633.5_Silent_p.D398D|CLUAP1_ENST00000571025.1_3'UTR|NLRC3_ENST00000448023.2_RNA|CLUAP1_ENST00000572600.1_Silent_p.D213D|CLUAP1_ENST00000445795.2_Silent_p.D157D	NM_015041.2	NP_055856.1	Q96AJ1	CLUA1_HUMAN	clusterin associated protein 1	379	Asp-rich.				cilium assembly (GO:0042384)	centrosome (GO:0005813)|cilium (GO:0005929)|intracellular membrane-bounded organelle (GO:0043231)|intraciliary transport particle B (GO:0030992)|nucleus (GO:0005634)		p.D379D(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(2)	16						ATGATGATGACGAGGATGACG	0.483																																																1	Substitution - coding silent(1)	large_intestine(1)											125	111	116					16																	3586166		2197	4300	6497	SO:0001819	synonymous_variant	23059			BC017070	CCDS32381.1, CCDS45398.1	16p13.3	2014-07-18				ENSG00000103351		"Intraflagellar transport homologs"	19009	protein-coding gene	gene with protein product	"flagellar associated protein 22, qilin-like protein, homolog (Chlamydomonas)", "cilia and flagella associated protein 22"					15480429, 9734811, 19253336	Standard	NM_015041		Approved	FLJ13297, KIAA0643, FAP22, CFAP22	uc002cvk.2	Q96AJ1		ENST00000576634.1:c.1137C>T	16.37:g.3586166C>T			O75138|Q65ZA3|Q9H8R4|Q9H8T1	Silent	SNP	ENST00000576634.1	37	CCDS32381.1																																																																																				0.483	CLUAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437883.2	NM_024793		T	3586166	C	T	3586166	2	4	743	1	0	0	0	0	0	0	0	1	3571	535	19	1		1	CLUAP1	16	3586166	Silent	SNP	C	TCGA-KN-8437-01A-11D-2310-10		3586166	86768587	31	43478											
OTOA	146183	broad.mit.edu	37	16	21698797	21698797	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr16:21698797G>A	ENST00000286149.4	+	7	464	c.463G>A	c.(463-465)Gtg>Atg	p.V155M	OTOA_ENST00000388956.4_Missense_Mutation_p.V76M|OTOA_ENST00000388958.3_Missense_Mutation_p.V155M			Q7RTW8	OTOAN_HUMAN	otoancorin	155					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)		GAGCCCTGGCGTGAACCGCAG	0.542																																																0													125	116	119					16																	21698797		2199	4300	6499	SO:0001583	missense	146183			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.463G>A	16.37:g.21698797G>A	ENSP00000286149:p.Val155Met		A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Missense_Mutation	SNP	ENST00000286149.4	37		.	.	.	.	.	.	.	.	.	.	G	17.69	3.452811	0.63290	.	.	ENSG00000155719	ENST00000388958;ENST00000286149;ENST00000388956	T;T;T	0.15487	2.42;2.42;2.42	4.91	3.95	0.45737	.	0.258322	0.30492	N	0.009503	T	0.32734	0.0839	L	0.56769	1.78	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.64237	0.923;0.923	T	0.02668	-1.1126	10	0.54805	T	0.06	-15.1079	10.6677	0.45741	0.0939:0.0:0.9061:0.0	.	76;155	B3KWU3;E9PF51	.;.	M	155;155;76	ENSP00000373610:V155M;ENSP00000286149:V155M;ENSP00000373608:V76M	ENSP00000286149:V155M	V	+	1	0	OTOA	21606298	0.987000	0.35691	0.836000	0.33094	0.996000	0.88848	1.928000	0.40104	1.054000	0.40438	0.650000	0.86243	GTG		0.542	OTOA-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000430021.1			A	21698797	G	A	21698797	3	1	743	1	0	0	0	0	1	0	0	0	11304	1145	40	1	523	1	OTOA	16	21698797	Missense_Mutation	SNP	G	TCGA-KN-8437-01A-11D-2310-10	18112631	21698797	68655956	32	43479											
ZNF668	79759	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	16	31073370	31073370	+	Silent	SNP	C	C	G			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr16:31073370C>G	ENST00000538906.1	-	3	1663	c.879G>C	c.(877-879)tcG>tcC	p.S293S	ZNF668_ENST00000426488.2_Silent_p.S316S|ZNF668_ENST00000564456.1_5'Flank|ZNF668_ENST00000539836.3_Silent_p.S316S|ZNF668_ENST00000300849.4_Silent_p.S293S|ZNF668_ENST00000535577.1_Silent_p.S293S|ZNF668_ENST00000394983.2_Silent_p.S293S|ZNF668_ENST00000417110.2_Silent_p.L186L	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	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)|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						GACGGAAGCTCGAGGGGTCGG	0.677																																					Colon(181;1111 1980 5060 10512 25785)											0													37	36	36					16																	31073370		2197	4298	6495	SO:0001819	synonymous_variant	79759				CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394		"Zinc fingers, C2H2-type"	25821	protein-coding gene	gene with protein product						12477932	Standard	NM_024706		Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.879G>C	16.37:g.31073370C>G			C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Silent	SNP	ENST00000538906.1	37	CCDS10701.1																																																																																				0.677	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108516.2	NM_024706		G	31073370	C	G	31073370	2	3	743	1	0	0	0	0	0	0	0	1	18080	871	31	4		4	ZNF668	16	31073370	Silent	SNP	C	TCGA-KN-8437-01A-11D-2310-10	9374573	31073370	59281383	33	43480											
SLC2A4	6517	broad.mit.edu	37	17	7186903	7186903	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr17:7186903T>C	ENST00000317370.8	+	3	530	c.262T>C	c.(262-264)Ttt>Ctt	p.F88L	SLC2A4_ENST00000424875.2_Missense_Mutation_p.F78L|RP1-4G17.2_ENST00000576271.1_RNA|SLC2A4_ENST00000571308.1_Missense_Mutation_p.F88L	NM_001042.2	NP_001033.1	P14672	GTR4_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 4	88					amylopectin biosynthetic process (GO:0010021)|brown fat cell differentiation (GO:0050873)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|cellular response to osmotic stress (GO:0071470)|glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|membrane organization (GO:0061024)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|endomembrane system (GO:0012505)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|insulin-responsive compartment (GO:0032593)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|multivesicular body (GO:0005771)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|trans-Golgi network transport vesicle (GO:0030140)|vesicle membrane (GO:0012506)	D-glucose transmembrane transporter activity (GO:0055056)|glucose transmembrane transporter activity (GO:0005355)			breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						CGTGGCCATCTTTTCCGTGGG	0.622																																																0													106	105	105					17																	7186903		2203	4300	6503	SO:0001583	missense	6517			M20747	CCDS11097.1	17p13	2013-05-22			ENSG00000181856	ENSG00000181856		"Solute carriers"	11009	protein-coding gene	gene with protein product		138190		GLUT4			Standard	NM_001042		Approved		uc002gfp.3	P14672	OTTHUMG00000102181	ENST00000317370.8:c.262T>C	17.37:g.7186903T>C	ENSP00000320935:p.Phe88Leu		Q05BQ3|Q14CX2	Missense_Mutation	SNP	ENST00000317370.8	37	CCDS11097.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.519126	0.85495	.	.	ENSG00000181856	ENST00000317370;ENST00000424875	T;T	0.74526	0.12;-0.85	5.31	5.31	0.75309	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.82305	0.5008	L	0.53729	1.69	0.58432	D	0.999999	D;D	0.76494	0.999;0.998	D;P	0.75020	0.985;0.88	D	0.83584	0.0119	10	0.62326	D	0.03	.	13.256	0.60079	0.0:0.0:0.0:1.0	.	88;78	P14672;F5H081	GTR4_HUMAN;.	L	88;78	ENSP00000320935:F88L;ENSP00000396887:F78L	ENSP00000320935:F88L	F	+	1	0	SLC2A4	7127627	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	7.525000	0.81892	2.234000	0.73211	0.459000	0.35465	TTT		0.622	SLC2A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220031.3			C	7186903	T	C	7186903	3	2	743	1	0	0	0	0	1	0	0	0	14552	1609	56	3	272	3	SLC2A4	17	7186903	Missense_Mutation	SNP	T	TCGA-KN-8437-01A-11D-2310-10		7186903	74008307	34	43481											
STXBP4	252983	broad.mit.edu	37	17	53077156	53077156	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr17:53077156A>G	ENST00000376352.2	+	6	658	c.451A>G	c.(451-453)Acc>Gcc	p.T151A	STXBP4_ENST00000398391.2_Missense_Mutation_p.T76A|STXBP4_ENST00000405898.1_Missense_Mutation_p.T151A|STXBP4_ENST00000434978.2_Missense_Mutation_p.T151A|STXBP4_ENST00000299341.4_Missense_Mutation_p.T76A	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	151					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						AATCCCAAAGACCTCATCCAC	0.353																																																0													84	81	82					17																	53077156		2203	4300	6503	SO:0001583	missense	252983			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.451A>G	17.37:g.53077156A>G	ENSP00000365530:p.Thr151Ala		Q8IVZ5	Missense_Mutation	SNP	ENST00000376352.2	37	CCDS11584.2	.	.	.	.	.	.	.	.	.	.	A	13.50	2.256374	0.39896	.	.	ENSG00000166263	ENST00000376352;ENST00000299341;ENST00000405898;ENST00000434978;ENST00000398391	T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56	5.35	3.15	0.36227	.	0.702796	0.14653	N	0.306480	T	0.33498	0.0865	M	0.70595	2.14	0.27885	N	0.939557	B;P;B	0.40230	0.329;0.708;0.323	B;B;B	0.43274	0.113;0.414;0.114	T	0.14504	-1.0470	10	0.27082	T	0.32	-0.0072	6.5428	0.22390	0.8135:0.0:0.1865:0.0	.	151;76;151	E7EPP7;Q6ZWJ1-2;Q6ZWJ1	.;.;STXB4_HUMAN	A	151;76;151;151;76	ENSP00000365530:T151A;ENSP00000299341:T76A;ENSP00000385944:T151A;ENSP00000391087:T151A;ENSP00000381427:T76A	ENSP00000299341:T76A	T	+	1	0	STXBP4	50432155	1.000000	0.71417	0.942000	0.38095	0.995000	0.86356	2.090000	0.41682	0.489000	0.27749	0.533000	0.62120	ACC		0.353	STXBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157184.1	NM_178509		G	53077156	A	G	53077156	3	3	743	1	0	0	0	0	1	0	0	0	15360	275	10	3	465	3	STXBP4	17	53077156	Missense_Mutation	SNP	A	TCGA-KN-8437-01A-11D-2310-10	45890253	53077156	28118054	35	43482											
MFSD11	79157	hgsc.bcm.edu	37	17	74765928	74765928	+	Silent	SNP	T	T	C			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr17:74765928T>C	ENST00000588460.1	+	10	2891	c.849T>C	c.(847-849)atT>atC	p.I283I	MFSD11_ENST00000590514.1_Silent_p.I283I|MFSD11_ENST00000593181.1_Silent_p.I231I|MFSD11_ENST00000355954.3_Silent_p.I231I|MFSD11_ENST00000586622.1_Silent_p.I283I|MFSD11_ENST00000336509.4_Silent_p.I283I	NM_001242534.1	NP_001229463.1	O43934	MFS11_HUMAN	major facilitator superfamily domain containing 11	283						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						TTTCTGGCATTTTCATCGGCA	0.318																																																0													142	151	148					17																	74765928		2203	4300	6503	SO:0001819	synonymous_variant	79157			BC002753	CCDS11750.1, CCDS56045.1	17q25.1	2012-03-09			ENSG00000092931	ENSG00000092931			25458	protein-coding gene	gene with protein product						9358160	Standard	NM_001242532		Approved	FLJ22196, FLJ20226	uc002jte.3	O43934		ENST00000588460.1:c.849T>C	17.37:g.74765928T>C			O43442|Q9NXI5	Silent	SNP	ENST00000588460.1	37	CCDS11750.1																																																																																				0.318	MFSD11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451516.1	NM_024311		C	74765928	T	C	74765928	2	2	743	1	0	0	0	0	0	0	0	1	9531	1829	64	3		3	MFSD11	17	74765928	Silent	SNP	T	TCGA-KN-8437-01A-11D-2310-10	21688772	74765928	6429282	36	43483											
EIF4A3	9775	bcgsc.ca	37	17	78109803	78109803	+	Splice_Site	SNP	C	C	T			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr17:78109803C>T	ENST00000269349.3	-	11	1440	c.1219G>A	c.(1219-1221)Gtt>Att	p.V407I		NM_014740.3	NP_055555.1	P38919	IF4A3_HUMAN	eukaryotic translation initiation factor 4A3	407	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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)			GATTTCCTACCGTTCATCGGC	0.428																																																0													114	107	110					17																	78109803		2203	4300	6503	SO:0001630	splice_region_variant	9775			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.1219+1G>A	17.37:g.78109803C>T			Q15033|Q6IBQ2|Q96A18	Missense_Mutation	SNP	ENST00000269349.3	37	CCDS11767.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.034577	0.35893	.	.	ENSG00000141543	ENST00000269349	T	0.27104	1.69	3.64	3.64	0.41730	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.09069	0.0224	N	0.01482	-0.84	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16660	-1.0395	9	.	.	.	.	12.8311	0.57746	0.0:1.0:0.0:0.0	.	407	P38919	IF4A3_HUMAN	I	407	ENSP00000269349:V407I	.	V	-	1	0	EIF4A3	75724398	1.000000	0.71417	0.972000	0.41901	0.469000	0.32828	7.212000	0.77941	1.878000	0.54408	0.484000	0.47621	GTT		0.428	EIF4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437446.1	NM_014740	Missense_Mutation	T	78109803	C	T	78109803	5	4	743	1	0	0	0	0	0	0	1	0	5028	666	23	1	24	1	EIF4A3	17	78109803	Splice_Site	SNP	C	TCGA-KN-8437-01A-11D-2310-10	3343875	78109803	3085407	37	43484											
ZNF521	25925	broad.mit.edu;hgsc.bcm.edu	37	18	22930911	22930911	+	5'UTR	SNP	C	C	A			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr18:22930911C>A	ENST00000361524.3	-	0	148				ZNF521_ENST00000584787.1_Intron|ZNF521_ENST00000538137.2_5'UTR|ZNF521_ENST00000579111.1_5'UTR	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521						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)					GGCGAGACATCCTAAAAGCAA	0.607			T	PAX5	ALL																																		Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	0													53	53	53					18																	22930911		2149	4207	6356	SO:0001623	5_prime_UTR_variant	25925			AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"Zinc fingers, C2H2-type"	24605	protein-coding gene	gene with protein product	"early hematopoietic zinc finger"	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.-1G>T	18.37:g.22930911C>A			A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Splice_Site	SNP	ENST00000361524.3	37	CCDS32806.1																																																																																				0.607	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		A	22930911	C	A	22930911	1	1	743	0	1	0	0	0	0	0	0	0	17970	869	30	4		4	ZNF521	18	22930911	5'UTR	SNP	C	TCGA-KN-8437-01A-11D-2310-10		22930911	55146337	38	43485											
BRD4	23476	mdanderson.org	37	19	15350594	15350594	+	Silent	SNP	G	G	A	rs11669901	byFrequency	TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr19:15350594G>A	ENST00000263377.2	-	16	3542	c.3321C>T	c.(3319-3321)ctC>ctT	p.L1107L		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	1107	C-terminal (CTD) region.				cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			TCACCACCACGAGGGGCTGGG	0.701			T	C15orf55	lethal midline carcinoma of young people								G|||	661	0.131989	0.1362	0.1009	5008	,	,		14853	0.0615		0.1879	False		,,,				2504	0.1636						Dom	yes		19	19p13.1	23476	bromodomain containing 4		E	0								G		600,3806	255.8+/-260.9	51,498,1654	40	45	43		3321	2	1	19	dbSNP_120	43	1498,7102	279.3+/-293.9	133,1232,2935	no	coding-synonymous	BRD4	NM_058243.2		184,1730,4589	AA,AG,GG		17.4186,13.6178,16.131		1107/1363	15350594	2098,10908	2203	4300	6503	SO:0001819	synonymous_variant	23476			Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"chromosome-associated protein"	608749	"bromodomain-containing 4"			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.3321C>T	19.37:g.15350594G>A			O60433|Q4G0X8|Q86YS8|Q96PD3	Silent	SNP	ENST00000263377.2	37	CCDS12328.1																																																																																				0.701	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	NM_058243		A	15350594	G	A	15350594	2	1	743	1	0	0	0	0	0	0	0	1	1506	1045	37	1		1	BRD4	19	15350594	Silent	SNP	G	TCGA-KN-8437-01A-11D-2310-10		15350594	43778389	39	43486											
ZNF345	25850	hgsc.bcm.edu	37	19	37368304	37368304	+	Missense_Mutation	SNP	G	G	T	rs199871319		TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr19:37368304G>T	ENST00000529555.1	+	2	1360	c.572G>T	c.(571-573)cGg>cTg	p.R191L	ZNF345_ENST00000420450.1_Missense_Mutation_p.R191L|ZNF345_ENST00000589046.1_Missense_Mutation_p.R191L|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000432005.2_Intron			Q14585	ZN345_HUMAN	zinc finger protein 345	191					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GCCCTTATTCGGCATCACAGA	0.428																																																0													66	63	64					19																	37368304		2203	4300	6503	SO:0001583	missense	25850			X78933	CCDS12497.1	19q13.12	2013-01-08			ENSG00000251247	ENSG00000251247		"Zinc fingers, C2H2-type"	16367	protein-coding gene	gene with protein product						7865130	Standard	NM_003419		Approved	HZF10	uc002oey.4	Q14585	OTTHUMG00000048162	ENST00000529555.1:c.572G>T	19.37:g.37368304G>T	ENSP00000431202:p.Arg191Leu			Missense_Mutation	SNP	ENST00000529555.1	37	CCDS12497.1	.	.	.	.	.	.	.	.	.	.	G	7.717	0.696334	0.15106	.	.	ENSG00000251247	ENST00000420450;ENST00000529555	T;T	0.34667	1.35;1.35	3.86	0.409	0.16382	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21921	0.0528	L	0.33624	1.015	0.09310	N	1	B	0.27679	0.185	B	0.22880	0.042	T	0.19224	-1.0312	8	.	.	.	.	5.1742	0.15126	0.2137:0.1775:0.6088:0.0	.	191	Q14585	ZN345_HUMAN	L	191	ENSP00000431216:R191L;ENSP00000431202:R191L	.	R	+	2	0	ZNF345	42060144	0.000000	0.05858	0.997000	0.53966	0.969000	0.65631	-2.856000	0.00729	0.361000	0.24292	0.561000	0.74099	CGG		0.428	ZNF345-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388258.1			T	37368304	G	T	37368304	3	4	743	1	0	0	0	0	1	0	0	0	17864	1116	39	4	574	4	ZNF345	19	37368304	Missense_Mutation	SNP	G	TCGA-KN-8437-01A-11D-2310-10	22017710	37368304	21760679	40	43487											
PSG6	5675	mdanderson.org	37	19	43411778	43411778	+	Missense_Mutation	SNP	C	C	T	rs151146504	byFrequency	TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr19:43411778C>T	ENST00000292125.2	-	4	979	c.935G>A	c.(934-936)cGg>cAg	p.R312Q	PSG6_ENST00000402603.4_Intron|PSG6_ENST00000187910.2_Missense_Mutation_p.R312Q	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6	312	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)				ATATCGGTCCCGTATTTCACA	0.502													.|||	6	0.00119808	0.0	0.0029	5008	,	,		21760	0.0		0.004	False		,,,				2504	0.0															0													158	144	149					19																	43411778		2202	4295	6497	SO:0001583	missense	5675				CCDS12613.1, CCDS33038.1	19q13.2	2013-01-29			ENSG00000170848	ENSG00000170848		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9523	protein-coding gene	gene with protein product		176395				1690992	Standard	NM_002782		Approved			Q00889	OTTHUMG00000151127	ENST00000292125.2:c.935G>A	19.37:g.43411778C>T	ENSP00000292125:p.Arg312Gln		O75244|Q15224|Q15235|Q549K1	Missense_Mutation	SNP	ENST00000292125.2	37	CCDS12613.1	.	.	.	.	.	.	.	.	.	.	N	4.566	0.105064	0.08731	.	.	ENSG00000170848	ENST00000187910;ENST00000292125	T;T	0.12672	2.66;2.66	1.42	0.312	0.15837	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.03871	0.0109	N	0.01618	-0.8	0.09310	N	1	D;B	0.54772	0.968;0.09	B;B	0.41236	0.351;0.045	T	0.22730	-1.0208	9	0.37606	T	0.19	.	3.255	0.06828	0.0:0.7031:0.0:0.2969	.	312;312	Q00889;Q00889-2	PSG6_HUMAN;.	Q	312	ENSP00000187910:R312Q;ENSP00000292125:R312Q	ENSP00000187910:R312Q	R	-	2	0	PSG6	48103618	0.000000	0.05858	0.007000	0.13788	0.019000	0.09904	-0.820000	0.04457	0.792000	0.33850	0.134000	0.15878	CGG		0.502	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321436.1	NM_002782		T	43411778	C	T	43411778	3	4	743	1	0	0	0	0	1	0	0	0	12664	652	23	1	423	1	PSG6	19	43411778	Missense_Mutation	SNP	C	TCGA-KN-8437-01A-11D-2310-10	6043474	43411778	15717205	41	43488											
CBR1	873	broad.mit.edu	37	21	37443310	37443310	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr21:37443310A>G	ENST00000290349.6	+	2	527	c.352A>G	c.(352-354)Acc>Gcc	p.T118A	AP000688.14_ENST00000535199.1_RNA|CBR1_ENST00000466328.2_3'UTR|CBR1_ENST00000399191.3_Missense_Mutation_p.T118A|SETD4_ENST00000399201.1_Intron|CBR1_ENST00000439427.2_Missense_Mutation_p.T118A|CBR1_ENST00000530908.1_Missense_Mutation_p.T118A	NM_001757.2	NP_001748.1	P16152	CBR1_HUMAN	carbonyl reductase 1	118					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|drug metabolic process (GO:0017144)|epithelial cell differentiation (GO:0030855)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|vitamin K metabolic process (GO:0042373)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	15-hydroxyprostaglandin dehydrogenase (NADP+) activity (GO:0047021)|carbonyl reductase (NADPH) activity (GO:0004090)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|prostaglandin-E2 9-reductase activity (GO:0050221)			endometrium(2)|kidney(3)	5					Doxorubicin(DB00997)|Haloperidol(DB00502)|Lubiprostone(DB01046)|Tetrabenazine(DB04844)	TTTCTTTGGTACCCGAGATGT	0.433																																																0													114	102	106					21																	37443310		2203	4300	6503	SO:0001583	missense	873				CCDS13641.1, CCDS68202.1	21q22.1	2011-09-14			ENSG00000159228	ENSG00000159228	1.1.1.184	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	1548	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 21C, member 1"	114830		CBR		8432528, 19027726	Standard	NM_001757		Approved	SDR21C1	uc002yvb.1	P16152	OTTHUMG00000086618	ENST00000290349.6:c.352A>G	21.37:g.37443310A>G	ENSP00000290349:p.Thr118Ala		B2RBZ7|B4DFK7|Q3LHW8	Missense_Mutation	SNP	ENST00000290349.6	37	CCDS13641.1	.	.	.	.	.	.	.	.	.	.	A	15.14	2.745192	0.49151	.	.	ENSG00000159228	ENST00000530908;ENST00000290349;ENST00000439427;ENST00000399191	D;D;D;D	0.85258	-1.96;-1.96;-1.96;-1.96	5.76	5.76	0.90799	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.80407	0.4617	L	0.33668	1.02	0.80722	D	1	P;B;B	0.38300	0.626;0.408;0.285	B;B;B	0.38156	0.266;0.256;0.198	T	0.81189	-0.1046	10	0.48119	T	0.1	-18.8594	16.0766	0.80971	1.0:0.0:0.0:0.0	.	118;118;118	B4DFK7;E9PQ63;P16152	.;.;CBR1_HUMAN	A	118	ENSP00000434613:T118A;ENSP00000290349:T118A;ENSP00000395132:T118A;ENSP00000382143:T118A	ENSP00000290349:T118A	T	+	1	0	CBR1	36365180	1.000000	0.71417	0.764000	0.31436	0.176000	0.22953	5.420000	0.66441	2.202000	0.70862	0.533000	0.62120	ACC		0.433	CBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194633.2			G	37443310	A	G	37443310	3	3	743	1	0	0	0	0	1	0	0	0	2710	391	14	3	358	3	CBR1	21	37443310	Missense_Mutation	SNP	A	TCGA-KN-8437-01A-11D-2310-10		37443310	10686585	42	43489											
PRODH	8214	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	22	18900771	18900771	+	IGR	SNP	C	C	T			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr22:18900771C>T	ENST00000331444.6	+	0	1214				PRODH_ENST00000420436.1_Missense_Mutation_p.G466S|PRODH_ENST00000357068.6_Missense_Mutation_p.G574S|PRODH_ENST00000334029.2_Missense_Mutation_p.G466S	NM_005675.4	NP_005666.2	Q14129	DGCR6_HUMAN	DiGeorge syndrome critical region gene 6						cell adhesion (GO:0007155)|organ morphogenesis (GO:0009887)	nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|cervix(1)|upper_aerodigestive_tract(1)	3						CGATGGGTGCCCTTCATGAGG	0.662																																																0													23	21	22					22																	18900771		2183	4257	6440	SO:0001628	intergenic_variant	5625			X96484	CCDS13753.1	22q11.21	2008-06-12			ENSG00000183628	ENSG00000183628			2846	protein-coding gene	gene with protein product		601279				8733130	Standard	NM_005675		Approved		uc002zoh.4	Q14129	OTTHUMG00000150162		22.37:g.18900771C>T			B2RCH5|D3DX15|G5E9J8|Q9BY28	Missense_Mutation	SNP	ENST00000331444.6	37	CCDS13753.1	.	.	.	.	.	.	.	.	.	.	N	25.4	4.638432	0.87760	.	.	ENSG00000100033	ENST00000357068;ENST00000313755	T	0.30981	1.51	4.43	4.43	0.53597	Proline dehydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.54334	0.1852	M	0.73372	2.23	0.54753	D	0.999981	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.58797	-0.7573	10	0.62326	D	0.03	-26.3236	14.911	0.70758	0.0:1.0:0.0:0.0	.	490;574;466	O43272-1;O43272;E7EQL6	.;PROD_HUMAN;.	S	574;219	ENSP00000349577:G574S	ENSP00000318329:G219S	G	-	1	0	PRODH	17280771	1.000000	0.71417	0.996000	0.52242	0.484000	0.33280	1.102000	0.31050	2.196000	0.70406	0.505000	0.49811	GGC		0.662	DGCR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316631.2	NM_005675		T	18900771	C	T	18900771	1	4	743	0	1	0	0	0	0	0	0	0	12553	623	22	2		2	PRODH	22	18900771	IGR	SNP	C	TCGA-KN-8437-01A-11D-2310-10		18900771	32403795	43	43490											
MKL1	57591	mdanderson.org	37	22	40814636	40814636	+	Silent	SNP	C	C	T	rs4821944	byFrequency	TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr22:40814636C>T	ENST00000355630.3	-	12	2396	c.1806G>A	c.(1804-1806)gcG>gcA	p.A602A	MKL1_ENST00000407029.1_Silent_p.A602A|MKL1_ENST00000396617.3_Silent_p.A602A|MKL1_ENST00000402042.1_Silent_p.A552A	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	602	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						TGGCTGGGGCCGCCAGGCTGG	0.701			T	RBM15	acute megakaryocytic leukemia								C|||	983	0.196286	0.1324	0.1988	5008	,	,		10064	0.0099		0.3052	False		,,,				2504	0.3609						Dom	yes		22	22q13	57591	megakaryoblastic leukemia (translocation) 1		L	0								C		645,3593		64,517,1538	7	10	9		1806	-9.1	0	22	dbSNP_111	9	2472,5952		376,1720,2116	no	coding-synonymous	MKL1	NM_020831.3		440,2237,3654	TT,TC,CC		29.3447,15.2194,24.617		602/932	40814636	3117,9545	2119	4212	6331	SO:0001819	synonymous_variant	57591			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.1806G>A	22.37:g.40814636C>T			Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Silent	SNP	ENST00000355630.3	37	CCDS14003.1																																																																																				0.701	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		T	40814636	C	T	40814636	2	4	743	1	0	0	0	0	0	0	0	1	9603	639	23	1		1	MKL1	22	40814636	Silent	SNP	C	TCGA-KN-8437-01A-11D-2310-10	21913865	40814636	10489930	44	43491											
ATRX	546	broad.mit.edu	37	X	76763910	76763911	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chrX:76763910_76763911insC	ENST00000373344.5	-	35	7611_7612	c.7397_7398insG	c.(7396-7398)ggtfs	p.G2466fs	ATRX_ENST00000395603.3_Frame_Shift_Ins_p.G2428fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2466					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						GTGGCTGCATACCACCAGCCAC	0.465			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																																Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	0																																										SO:0001589	frameshift_variant	546			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.7398dupG	X.37:g.76763912_76763912dupC	ENSP00000362441:p.Gly2466fs		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Ins	INS	ENST00000373344.5	37	CCDS14434.1																																																																																				0.465	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		C	76763911	-	C	76763910	7	5	743	1	0	1	1	0	0	0	0	0	1208	378	14	0	84	0	ATRX	23	76763910	Frame_Shift_Ins	INS	-	TCGA-KN-8437-01A-11D-2310-10		76763910	78506650	45	43492											
TCEAL5	340543	mdanderson.org	37	X	102529084	102529084	+	Silent	SNP	T	T	C			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chrX:102529084T>C	ENST00000372680.1	-	3	702	c.408A>G	c.(406-408)caA>caG	p.Q136Q		NM_001012979.2	NP_001012997.1	Q5H9L2	TCAL5_HUMAN	transcription elongation factor A (SII)-like 5	136					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.Q136Q(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						GATGCCTTTCTTGTAAGTCCT	0.498																																																2	Substitution - coding silent(2)	kidney(1)|endometrium(1)											203	174	184					X																	102529084		2203	4300	6503	SO:0001819	synonymous_variant	340543				CCDS35356.1	Xq22.2	2014-03-21			ENSG00000204065	ENSG00000204065			22282	protein-coding gene	gene with protein product						16221301	Standard	NM_001012979		Approved	WEX4	uc004ejz.2	Q5H9L2	OTTHUMG00000022092	ENST00000372680.1:c.408A>G	X.37:g.102529084T>C			A2RUJ4	Silent	SNP	ENST00000372680.1	37	CCDS35356.1																																																																																				0.498	TCEAL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057696.1	XM_291334		C	102529084	T	C	102529084	2	2	743	1	0	0	0	0	0	0	0	1	15679	1606	56	3		3	TCEAL5	23	102529084	Silent	SNP	T	TCGA-KN-8437-01A-11D-2310-10	25765174	102529084	52741476	46	43493											
RAB40A	142684	broad.mit.edu	37	X	102755467	102755468	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chrX:102755467_102755468insC	ENST00000372633.1	-	1	2335_2336	c.217_218insG	c.(217-219)cagfs	p.Q73fs	RAB40A_ENST00000304236.1_Frame_Shift_Ins_p.Q73fs|LL0XNC01-250H12.3_ENST00000445990.1_RNA			Q8WXH6	RB40A_HUMAN	RAB40A, member RAS oncogene family	73					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						AAATCTTCCCTGCCCCGACGTA	0.564																																																0																																										SO:0001589	frameshift_variant	142684			AF132748	CCDS35357.1	Xq22.1	2009-08-25			ENSG00000172476	ENSG00000172476		"RAB, member RAS oncogene"	18283	protein-coding gene	gene with protein product						11697911	Standard	NM_080879		Approved	RAR2A, Rar-2	uc004ekk.3	Q8WXH6	OTTHUMG00000022100	ENST00000372633.1:c.217_218insG	X.37:g.102755467_102755468insC	ENSP00000361716:p.Gln73fs		O00407|Q17RQ5|Q6DK06|Q8TF06	Frame_Shift_Ins	INS	ENST00000372633.1	37	CCDS35357.1																																																																																				0.564	RAB40A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057714.1			C	102755468	-	C	102755467	7	5	743	1	0	1	1	0	0	0	0	0	12945	1580	55	0	619	0	RAB40A	23	102755467	Frame_Shift_Ins	INS	-	TCGA-KN-8437-01A-11D-2310-10	226383	102755467	52515093	47	43494											
PRDM2	7799	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	14105033	14105033	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr1:14105033C>T	ENST00000235372.7	+	8	1599	c.743C>T	c.(742-744)cCa>cTa	p.P248L	PRDM2_ENST00000311066.5_Missense_Mutation_p.P248L|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.P47L|PRDM2_ENST00000343137.4_Missense_Mutation_p.P47L|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000505823.1_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	248					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)		GCCTGGGAGCCACAGCCAGAA	0.592																																																0													53	58	56					1																	14105033		2202	4300	6502	SO:0001583	missense	7799			U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"Chromatin-modifying enzymes / K-methyltransferases"	9347	protein-coding gene	gene with protein product	"retinoblastoma protein-binding zinc finger protein", "retinoblastoma protein-interacting zinc finger protein", "MTE-binding protein", "zinc-finger DNA-binding protein", "GATA-3 binding protein G3B"	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.743C>T	1.37:g.14105033C>T	ENSP00000235372:p.Pro248Leu		B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	37	CCDS150.1	.	.	.	.	.	.	.	.	.	.	C	7.476	0.647689	0.14516	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137;ENST00000407521	T;T;T;T	0.01572	4.88;4.77;4.76;4.76	5.66	2.67	0.31697	.	0.702533	0.14676	N	0.305019	T	0.02156	0.0067	L	0.40543	1.245	0.25767	N	0.984882	B;B;B	0.19817	0.0;0.023;0.039	B;B;B	0.23716	0.002;0.021;0.048	T	0.41070	-0.9529	10	0.59425	D	0.04	.	7.4233	0.27083	0.0:0.6362:0.0:0.3638	.	106;248;248	Q5THJ0;Q13029;Q13029-2	.;PRDM2_HUMAN;.	L	248;248;248;47;47;47	ENSP00000235372:P248L;ENSP00000312352:P248L;ENSP00000411103:P47L;ENSP00000341621:P47L	ENSP00000235372:P248L	P	+	2	0	PRDM2	13977620	0.058000	0.20735	0.043000	0.18650	0.063000	0.16089	0.460000	0.21924	0.283000	0.22279	-0.378000	0.06908	CCA		0.592	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		T	14105033	C	T	14105033	3	4	744	1	0	0	0	0	1	0	0	0	12463	594	21	2	769	2	PRDM2	1	14105033	Missense_Mutation	SNP	C	TCGA-KO-8403-01A-11D-2310-10		14105033	235145588	1	43495											
KIF17	57576	ucsc.edu	37	1	20998493	20998493	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr1:20998493T>C	ENST00000247986.2	-	12	2970	c.2660A>G	c.(2659-2661)gAc>gGc	p.D887G	KIF17_ENST00000375044.1_Missense_Mutation_p.D787G|KIF17_ENST00000490034.1_5'UTR|KIF17_ENST00000400463.3_Missense_Mutation_p.D887G			Q9P2E2	KIF17_HUMAN	kinesin family member 17	887					ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		GTTATCTTCGTCCCAGCAGGA	0.582																																																0													123	112	116					1																	20998493		2203	4300	6503	SO:0001583	missense	57576			AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"Kinesins"	19167	protein-coding gene	gene with protein product	"kinesin-like protein KIF17", "KIF3-related motor protein", "KIF17 variant protein"	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.2660A>G	1.37:g.20998493T>C	ENSP00000247986:p.Asp887Gly		A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Missense_Mutation	SNP	ENST00000247986.2	37	CCDS213.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.863900	0.91511	.	.	ENSG00000117245	ENST00000375044;ENST00000400463;ENST00000247986;ENST00000321188	T;T;T	0.75821	-0.97;-0.78;-0.79	5.64	5.64	0.86602	.	0.000000	0.33515	U	0.004839	D	0.85261	0.5656	M	0.70595	2.14	0.45883	D	0.998733	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.996	D	0.86601	0.1866	10	0.66056	D	0.02	.	15.3326	0.74226	0.0:0.0:0.0:1.0	.	887;887;887	B0I1R5;Q9P2E2-3;Q9P2E2	.;.;KIF17_HUMAN	G	787;887;887;268	ENSP00000364184:D787G;ENSP00000383311:D887G;ENSP00000247986:D887G	ENSP00000247986:D887G	D	-	2	0	KIF17	20871080	1.000000	0.71417	0.996000	0.52242	0.973000	0.67179	7.278000	0.78587	2.279000	0.76181	0.459000	0.35465	GAC		0.582	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816		C	20998493	T	C	20998493	3	2	744	1	0	0	0	0	1	0	0	0	8281	1667	58	3	445	3	KIF17	1	20998493	Missense_Mutation	SNP	T	TCGA-KO-8403-01A-11D-2310-10	6893460	20998493	228252128	2	43496											
CSMD2	114784	broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	34043016	34043016	+	Missense_Mutation	SNP	C	C	T	rs374084658		TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr1:34043016C>T	ENST00000373381.4	-	49	7632	c.7456G>A	c.(7456-7458)Ggg>Agg	p.G2486R		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2488	Sushi 14. {ECO:0000255|PROSITE- ProRule:PRU00302}.					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)				ATGGAGCCCCCGGGCTGGGTG	0.642													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15976	0.0		0.0	False		,,,				2504	0.0															0								C	ARG/GLY	0,4406		0,0,2203	49	53	51		7462	5.4	1	1		51	1,8599	1.2+/-3.3	0,1,4299	no	missense	CSMD2	NM_052896.3	125	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	2488/3488	34043016	1,13005	2203	4300	6503	SO:0001583	missense	114784			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.7456G>A	1.37:g.34043016C>T	ENSP00000362479:p.Gly2486Arg		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37		.	.	.	.	.	.	.	.	.	.	C	33	5.242722	0.95272	0.0	1.16E-4	ENSG00000121904	ENST00000373381	T	0.71698	-0.59	5.45	5.45	0.79879	Complement control module (2);Sushi/SCR/CCP (3);	0.123617	0.53938	D	0.000044	D	0.86167	0.5868	M	0.84511	2.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87679	0.2546	10	0.62326	D	0.03	.	18.2782	0.90089	0.0:1.0:0.0:0.0	.	2488;2486	Q7Z408;E7EUA6	CSMD2_HUMAN;.	R	2486	ENSP00000362479:G2486R	ENSP00000241312:G2488R	G	-	1	0	CSMD2	33815603	1.000000	0.71417	0.989000	0.46669	0.989000	0.77384	7.757000	0.85209	2.569000	0.86673	0.563000	0.77884	GGG		0.642	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		T	34043016	C	T	34043016	3	4	744	1	0	0	0	0	1	0	0	0	3947	652	23	1	3081	1	CSMD2	1	34043016	Missense_Mutation	SNP	C	TCGA-KO-8403-01A-11D-2310-10	13044523	34043016	215207605	3	43497											
GPATCH4	54865	hgsc.bcm.edu	37	1	156565504	156565504	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr1:156565504delT	ENST00000438976.2	-	8	659	c.629delA	c.(628-630)aagfs	p.K213fs	GPATCH4_ENST00000497287.1_5'UTR|GPATCH4_ENST00000368232.4_Frame_Shift_Del_p.K208fs			Q5T3I0	GPTC4_HUMAN	G patch domain containing 4	208							poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTTCTTTTTCTTTTTTTTGGG	0.537																																																0													90	89	90					1																	156565504		2203	4300	6503	SO:0001589	frameshift_variant	54865			BC056904	CCDS1146.1, CCDS44245.1	1q22	2013-01-28		2006-12-13	ENSG00000160818	ENSG00000160818		"G patch domain containing"	25982	protein-coding gene	gene with protein product				GPATC4		12477932	Standard	NM_015590		Approved	FLJ20249, DKFZP434F1735	uc001fpl.3	Q5T3I0	OTTHUMG00000033203	ENST00000438976.2:c.629delA	1.37:g.156565504delT	ENSP00000396441:p.Lys213fs		Q5T3I1|Q6ZUE7|Q8IWG8|Q9NXH4	Frame_Shift_Del	DEL	ENST00000438976.2	37	CCDS44245.1																																																																																				0.537	GPATCH4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386947.1	NM_017725		-	156565504	T	-	156565504	7	5	744	1	0	1	0	1	0	0	0	0	6595	1609	56	0	502	0	GPATCH4	1	156565504	Frame_Shift_Del	DEL	T	TCGA-KO-8403-01A-11D-2310-10	122522488	156565504	92685117	4	43498											
BAT2L2	23215	broad.mit.edu	37	1	171560737	171560737	+	Silent	SNP	A	A	G			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr1:171560737A>G	ENST00000338920.4	+	34	8442	c.8205A>G	c.(8203-8205)agA>agG	p.R2735R	PRRC2C_ENST00000426496.2_Silent_p.R2670R|PRRC2C_ENST00000367742.3_Silent_p.R2737R|PRRC2C_ENST00000392078.3_Silent_p.R2816R	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	2814					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										CAAAGCAGAGAGCAGAGGTTC	0.418																																																0													81	76	78					1																	171560737		1919	4135	6054	SO:0001819	synonymous_variant	23215			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.8205A>G	1.37:g.171560737A>G			Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Silent	SNP	ENST00000338920.4	37	CCDS1296.2	.	.	.	.	.	.	.	.	.	.	A	5.980	0.364720	0.11296	.	.	ENSG00000117523	ENST00000495585	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	T	0.66317	0.2777	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66180	-0.5988	4	.	.	.	.	16.3871	0.83514	1.0:0.0:0.0:0.0	.	.	.	.	G	1218	.	.	E	+	2	0	PRRC2C	169827360	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.978000	0.56881	2.270000	0.75569	0.482000	0.46254	GAG		0.418	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		G	171560737	A	G	171560737	2	3	744	1	0	0	0	0	0	0	0	1	1321	301	11	3		3	BAT2L2	1	171560737	Silent	SNP	A	TCGA-KO-8403-01A-11D-2310-10	14995233	171560737	77689884	5	43499											
OR2L2	26246	mdanderson.org	37	1	248202412	248202412	+	Silent	SNP	C	C	T			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr1:248202412C>T	ENST00000366479.2	+	1	939	c.843C>T	c.(841-843)acC>acT	p.T281T	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	281						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)			CCATCCTCACCCCAATGCTCA	0.468																																																0													98	93	95					1																	248202412		2203	4300	6503	SO:0001819	synonymous_variant	26246			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.843C>T	1.37:g.248202412C>T			Q2M3T5	Silent	SNP	ENST00000366479.2	37	CCDS31103.1																																																																																				0.468	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1	NM_001004686		T	248202412	C	T	248202412	2	4	744	1	0	0	0	0	0	0	0	1	11009	610	22	2		2	OR2L2	1	248202412	Silent	SNP	C	TCGA-KO-8403-01A-11D-2310-10	76641675	248202412	1048209	6	43500											
SCN1A	6323	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	166900204	166900204	+	Missense_Mutation	SNP	A	A	T			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr2:166900204A>T	ENST00000303395.4	-	11	2017	c.2018T>A	c.(2017-2019)aTa>aAa	p.I673K	AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Intron|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Intron|SCN1A_ENST00000423058.2_Missense_Mutation_p.I673K			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	673					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)	TGGCTTATCTATTATCACCTC	0.473																																																0													72	67	69					2																	166900204		2203	4300	6503	SO:0001583	missense	6323			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10585	protein-coding gene	gene with protein product		182389	"febrile convulsions 3"	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.2018T>A	2.37:g.166900204A>T	ENSP00000303540:p.Ile673Lys		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	A	14.10	2.434635	0.43224	.	.	ENSG00000144285	ENST00000423058;ENST00000303395	D;D	0.90620	-2.7;-2.7	4.9	4.9	0.64082	Domain of unknown function DUF3451 (1);	0.000000	0.64402	D	0.000010	D	0.85191	0.5640	L	0.34521	1.04	0.45066	D	0.998084	P	0.42357	0.777	B	0.43052	0.406	T	0.83092	-0.0132	10	0.06365	T	0.9	.	14.8259	0.70113	1.0:0.0:0.0:0.0	.	673	P35498	SCN1A_HUMAN	K	673	ENSP00000407030:I673K;ENSP00000303540:I673K	ENSP00000303540:I673K	I	-	2	0	SCN1A	166608450	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.285000	0.78660	1.962000	0.57031	0.459000	0.35465	ATA		0.473	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		T	166900204	A	T	166900204	3	4	744	1	0	0	0	0	1	0	0	0	13920	449	16	5	4075	5	SCN1A	2	166900204	Missense_Mutation	SNP	A	TCGA-KO-8403-01A-11D-2310-10		166900204	76299169	7	43501											
GPR155	151556	ucsc.edu	37	2	175346286	175346286	+	Silent	SNP	T	T	C			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr2:175346286T>C	ENST00000392552.2	-	2	637	c.399A>G	c.(397-399)aaA>aaG	p.K133K	GPR155_ENST00000295500.4_Silent_p.K133K|GPR155_ENST00000392551.2_Silent_p.K133K	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	133					cognition (GO:0050890)|intracellular signal transduction (GO:0035556)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						ATAGTCCAGCTTTGCTAAATC	0.323																																																0													151	163	159					2																	175346286		2203	4299	6502	SO:0001819	synonymous_variant	151556			AY255528	CCDS2259.1, CCDS74605.1	2q31.1	2012-04-10			ENSG00000163328	ENSG00000163328			22951	protein-coding gene	gene with protein product						12679517	Standard	NM_001033045		Approved	DEPDC3, DEP.7, FLJ31819, PGR22	uc002uiu.4	Q7Z3F1	OTTHUMG00000132336	ENST00000392552.2:c.399A>G	2.37:g.175346286T>C			B2RCI2|D3DPE2|Q4G0Y6|Q53SJ3|Q53TA8|Q69YG8|Q86SP9|Q8N261|Q8N639|Q8N8K3|Q96MV6	Silent	SNP	ENST00000392552.2	37	CCDS2259.1																																																																																				0.323	GPR155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255455.1	NM_152529		C	175346286	T	C	175346286	2	2	744	1	0	0	0	0	0	0	0	1	6662	1606	56	3		3	GPR155	2	175346286	Silent	SNP	T	TCGA-KO-8403-01A-11D-2310-10	8446082	175346286	67853087	8	43502											
ATG7	10533	broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	11340174	11340174	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr3:11340174C>T	ENST00000354449.3	+	2	30	c.5C>T	c.(4-6)gCg>gTg	p.A2V	ATG7_ENST00000446450.2_Missense_Mutation_p.A2V|ATG7_ENST00000354956.5_Missense_Mutation_p.A2V|ATG7_ENST00000469654.2_3'UTR	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	2					adult walking behavior (GO:0007628)|C-terminal protein lipidation (GO:0006501)|cardiac muscle cell development (GO:0055013)|cellular amino acid metabolic process (GO:0006520)|cellular protein modification process (GO:0006464)|cellular response to hyperoxia (GO:0071455)|cellular response to nitrogen starvation (GO:0006995)|cellular response to starvation (GO:0009267)|central nervous system neuron axonogenesis (GO:0021955)|cerebellar Purkinje cell layer development (GO:0021680)|cerebral cortex development (GO:0021987)|late nucleophagy (GO:0044805)|liver development (GO:0001889)|membrane fusion (GO:0061025)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative stranded viral RNA replication (GO:0039689)|neurological system process (GO:0050877)|piecemeal microautophagy of nucleus (GO:0034727)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein modification process (GO:0031401)|post-embryonic development (GO:0009791)|protein catabolic process (GO:0030163)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)|pyramidal neuron development (GO:0021860)|regulation of protein ubiquitination (GO:0031396)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)	Atg12 activating enzyme activity (GO:0019778)|Atg8 activating enzyme (GO:0019779)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)|ubiquitin activating enzyme activity (GO:0004839)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						GAAATAATGGCGGCAGCTACG	0.408																																																0													105	115	111					3																	11340174		2203	4300	6503	SO:0001583	missense	10533			AF094516	CCDS2605.1, CCDS46752.1, CCDS46753.1	3p25.3-p25.2	2014-02-18	2012-06-06	2005-09-11	ENSG00000197548	ENSG00000197548		"Ubiquitin-like modifier activating enzymes"	16935	protein-coding gene	gene with protein product	"ubiquitin-activating enzyme E1-like protein"	608760	"APG7 autophagy 7-like (S. cerevisiae)", "ATG7 autophagy related 7 homolog (S. cerevisiae)"	APG7L		10233149	Standard	NM_006395		Approved	GSA7, DKFZp434N0735	uc003bwc.3	O95352	OTTHUMG00000129740	ENST00000354449.3:c.5C>T	3.37:g.11340174C>T	ENSP00000346437:p.Ala2Val		B4E170|E9PB95|Q7L8L0|Q9BWP2|Q9UFH4	Missense_Mutation	SNP	ENST00000354449.3	37	CCDS2605.1	.	.	.	.	.	.	.	.	.	.	C	18.67	3.672825	0.67928	.	.	ENSG00000197548	ENST00000451513;ENST00000435760;ENST00000451830;ENST00000444619;ENST00000446450;ENST00000354956;ENST00000354449;ENST00000419112;ENST00000423116	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	6.17	5.3	0.74995	.	0.370287	0.27109	N	0.020900	T	0.24774	0.0601	N	0.14661	0.345	0.33124	D	0.54224	B;P;P	0.43352	0.396;0.804;0.704	B;B;B	0.34242	0.086;0.178;0.086	T	0.42949	-0.9421	10	0.72032	D	0.01	-4.5055	12.4727	0.55795	0.0:0.9231:0.0:0.0769	.	2;2;2	E9PB95;O95352-2;O95352	.;.;ATG7_HUMAN	V	2	ENSP00000415223:A2V;ENSP00000390547:A2V;ENSP00000411880:A2V;ENSP00000389996:A2V;ENSP00000412580:A2V;ENSP00000347042:A2V;ENSP00000346437:A2V;ENSP00000408303:A2V;ENSP00000416644:A2V	ENSP00000346437:A2V	A	+	2	0	ATG7	11315174	0.990000	0.36364	0.964000	0.40570	0.065000	0.16274	2.914000	0.48797	1.627000	0.50400	0.655000	0.94253	GCG		0.408	ATG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251951.3	NM_006395		T	11340174	C	T	11340174	3	4	744	1	0	0	0	0	1	0	0	0	1101	768	27	1	7	1	ATG7	3	11340174	Missense_Mutation	SNP	C	TCGA-KO-8403-01A-11D-2310-10		11340174	186682256	9	43503											
NDUFAF3	25915	broad.mit.edu	37	3	49059954	49059954	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr3:49059954T>C	ENST00000326925.6	+	2	1387	c.253T>C	c.(253-255)Tcg>Ccg	p.S85P	MIR191_ENST00000384873.1_RNA|DALRD3_ENST00000440857.1_5'Flank|NDUFAF3_ENST00000451378.2_Missense_Mutation_p.S28P|NDUFAF3_ENST00000326912.4_Missense_Mutation_p.S28P|MIR425_ENST00000362162.1_RNA|DALRD3_ENST00000313778.5_5'Flank|DALRD3_ENST00000496568.1_5'Flank|NDUFAF3_ENST00000395458.2_Missense_Mutation_p.S28P	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 3	85					mitochondrial respiratory chain complex I assembly (GO:0032981)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						GCTCCCGCACTCGGTGGTGCA	0.622																																																0													24	23	24					3																	49059954		2203	4300	6503	SO:0001583	missense	25915				CCDS2784.1, CCDS2785.1	3p21.31	2012-10-12	2012-05-08	2009-03-18	ENSG00000178057	ENSG00000178057		"Mitochondrial respiratory chain complex assembly factors"	29918	protein-coding gene	gene with protein product		612911	"chromosome 3 open reading frame 60", "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3"	C3orf60		12653254, 9349717	Standard	NM_199069		Approved	MGC10527, DKFZP564J0123, E3-3, 2P1	uc003cvq.3	Q9BU61	OTTHUMG00000156773	ENST00000326925.6:c.253T>C	3.37:g.49059954T>C	ENSP00000323076:p.Ser85Pro			Missense_Mutation	SNP	ENST00000326925.6	37	CCDS2784.1	.	.	.	.	.	.	.	.	.	.	T	15.91	2.971238	0.53614	.	.	ENSG00000178057	ENST00000326912;ENST00000326925;ENST00000395458;ENST00000451378	T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13	5.37	2.83	0.33086	.	0.113452	0.64402	D	0.000016	T	0.81564	0.4849	M	0.78049	2.395	0.35697	D	0.815333	P	0.45240	0.854	P	0.54026	0.74	T	0.81280	-0.1004	10	0.46703	T	0.11	-13.547	5.6228	0.17467	0.3845:0.0:0.2401:0.3755	.	85	Q9BU61	NDUF3_HUMAN	P	28;85;28;28	ENSP00000323003:S28P;ENSP00000323076:S85P;ENSP00000378843:S28P;ENSP00000402465:S28P	ENSP00000323003:S28P	S	+	1	0	NDUFAF3	49034958	0.993000	0.37304	0.465000	0.27155	0.082000	0.17680	2.759000	0.47573	0.282000	0.22254	0.482000	0.46254	TCG		0.622	NDUFAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345683.2	NM_199069		C	49059954	T	C	49059954	3	2	744	1	0	0	0	0	1	0	0	0	10278	1551	54	3	259	3	NDUFAF3	3	49059954	Missense_Mutation	SNP	T	TCGA-KO-8403-01A-11D-2310-10	37719780	49059954	148962476	10	43504											
DNAH12	201625	broad.mit.edu	37	3	57431084	57431084	+	Silent	SNP	G	G	T			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr3:57431084G>T	ENST00000351747.2	-	28	4353	c.4173C>A	c.(4171-4173)ctC>ctA	p.L1391L		NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	1391	AAA 1. {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						CGTAAGAGTAGAGGGAGATTT	0.363																																																0													55	50	51					3																	57431084		692	1591	2283	SO:0001819	synonymous_variant	201625			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.4173C>A	3.37:g.57431084G>T			A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Silent	SNP	ENST00000351747.2	37																																																																																					0.363	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_178504		T	57431084	G	T	57431084	2	4	744	1	0	0	0	0	0	0	0	1	4602	929	33	4		4	DNAH12	3	57431084	Silent	SNP	G	TCGA-KO-8403-01A-11D-2310-10	8371130	57431084	140591346	11	43505											
SIAH2	6478	bcgsc.ca	37	3	150460253	150460253	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr3:150460253T>C	ENST00000312960.3	-	2	1177	c.650A>G	c.(649-651)gAc>gGc	p.D217G		NM_005067.5	NP_005058.3	O43255	SIAH2_HUMAN	siah E3 ubiquitin protein ligase 2	217	SBD.				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)	p.D217G(1)		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)			CATCACCCAGTCGACAGCCCC	0.507																																																1	Substitution - Missense(1)	lung(1)											113	104	107					3																	150460253		2203	4300	6503	SO:0001583	missense	6478			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.650A>G	3.37:g.150460253T>C	ENSP00000322457:p.Asp217Gly		O43270	Missense_Mutation	SNP	ENST00000312960.3	37	CCDS3152.1	.	.	.	.	.	.	.	.	.	.	T	28.8	4.947371	0.92593	.	.	ENSG00000181788	ENST00000312960	T	0.25912	1.77	5.67	5.67	0.87782	TRAF-type (1);Seven-in-absentia protein, TRAF-like domain (1);TRAF-like (1);	0.000000	0.85682	D	0.000000	T	0.55657	0.1934	M	0.90759	3.145	0.80722	D	1	P	0.43287	0.802	P	0.57846	0.828	T	0.59150	-0.7508	10	0.36615	T	0.2	.	15.9206	0.79562	0.0:0.0:0.0:1.0	.	217	O43255	SIAH2_HUMAN	G	217	ENSP00000322457:D217G	ENSP00000322457:D217G	D	-	2	0	SIAH2	151942943	1.000000	0.71417	0.994000	0.49952	0.922000	0.55478	8.024000	0.88770	2.148000	0.66965	0.482000	0.46254	GAC		0.507	SIAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357697.1	NM_005067		C	150460253	T	C	150460253	3	2	744	1	0	0	0	0	1	0	0	0	14306	1667	58	3	328	3	SIAH2	3	150460253	Missense_Mutation	SNP	T	TCGA-KO-8403-01A-11D-2310-10	93029169	150460253	47562177	12	43506											
FAM13A	10144	broad.mit.edu;mdanderson.org;bcgsc.ca	37	4	89668864	89668864	+	Missense_Mutation	SNP	G	G	T			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr4:89668864G>T	ENST00000264344.5	-	18	2507	c.2300C>A	c.(2299-2301)cCc>cAc	p.P767H	FAM13A_ENST00000513837.1_Missense_Mutation_p.P413H|FAM13A_ENST00000508369.1_Missense_Mutation_p.P441H|FAM13A_ENST00000395002.2_Missense_Mutation_p.P441H|FAM13A_ENST00000503556.1_Missense_Mutation_p.P427H|FAM13A_ENST00000511976.1_Missense_Mutation_p.P353H	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	767					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						TTCAACACTGGGCTTTATTGC	0.493																																																0													156	177	170					4																	89668864		2203	4300	6503	SO:0001583	missense	10144			AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"Rho GTPase activating proteins"	19367	protein-coding gene	gene with protein product		613299	"family with sequence similarity 13, member A1"	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.2300C>A	4.37:g.89668864G>T	ENSP00000264344:p.Pro767His		B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Missense_Mutation	SNP	ENST00000264344.5	37	CCDS34029.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.553406	0.45487	.	.	ENSG00000138640	ENST00000395002;ENST00000264344;ENST00000503556;ENST00000511976;ENST00000508369;ENST00000513837	T;T;T;T;T;T	0.57107	0.42;1.73;1.04;1.1;1.04;1.05	5.26	4.43	0.53597	.	0.055321	0.64402	D	0.000001	T	0.70605	0.3243	M	0.71581	2.175	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	0.997;0.999;0.998;0.999;0.996;0.997	T	0.74858	-0.3521	10	0.87932	D	0	.	13.9499	0.64111	0.0724:0.0:0.9276:0.0	.	413;353;767;441;427;441	O94988-6;E9PGM7;O94988;O94988-3;O94988-5;O94988-1	.;.;FA13A_HUMAN;.;.;.	H	441;767;427;353;441;413	ENSP00000378450:P441H;ENSP00000264344:P767H;ENSP00000427189:P427H;ENSP00000421914:P353H;ENSP00000421562:P441H;ENSP00000423252:P413H	ENSP00000264344:P767H	P	-	2	0	FAM13A	89887887	1.000000	0.71417	0.212000	0.23672	0.022000	0.10575	7.660000	0.83776	1.457000	0.47850	0.655000	0.94253	CCC		0.493	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363371.1			T	89668864	G	T	89668864	3	4	744	1	0	0	0	0	1	0	0	0	5454	1232	43	4	799	4	FAM13A	4	89668864	Missense_Mutation	SNP	G	TCGA-KO-8403-01A-11D-2310-10		89668864	101485412	13	43507											
TRPC3	7222	mdanderson.org	37	4	122872719	122872719	+	Silent	SNP	G	G	A	rs1396082	byFrequency	TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr4:122872719G>A	ENST00000379645.3	-	1	190	c.117C>T	c.(115-117)ggC>ggT	p.G39G		NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	0					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						CGCCCCTCCAGCCCCGGCGGC	0.751													G|||	1898	0.378994	0.093	0.4193	5008	,	,		7272	0.5179		0.5318	False		,,,				2504	0.4366															0													3	4	4					4																	122872719		586	1410	1996	SO:0001819	synonymous_variant	7222			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.117C>T	4.37:g.122872719G>A			A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Silent	SNP	ENST00000379645.3	37	CCDS47130.1																																																																																				0.751	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364252.1	NM_003305		A	122872719	G	A	122872719	2	1	744	1	0	0	0	0	0	0	0	1	16584	958	34	2		2	TRPC3	4	122872719	Silent	SNP	G	TCGA-KO-8403-01A-11D-2310-10	33203855	122872719	68281557	14	43508											
PCDHB3	56132	broad.mit.edu	37	5	140480872	140480872	+	Silent	SNP	C	C	T	rs148121148		TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr5:140480872C>T	ENST00000231130.2	+	1	639	c.639C>T	c.(637-639)acC>acT	p.T213T	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	213	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(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)			TAACGCTCACCGCGCTGGACG	0.562																																																0								C		1,4405	2.1+/-5.4	0,1,2202	51	51	51		639	-10.2	0	5	dbSNP_134	51	0,8600		0,0,4300	no	coding-synonymous	PCDHB3	NM_018937.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		213/797	140480872	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	56132			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.639C>T	5.37:g.140480872C>T			B2R8P2	Silent	SNP	ENST00000231130.2	37	CCDS4245.1																																																																																				0.562	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		T	140480872	C	T	140480872	2	4	744	1	0	0	0	0	0	0	0	1	11545	639	23	1		1	PCDHB3	5	140480872	Silent	SNP	C	TCGA-KO-8403-01A-11D-2310-10		140480872	40434388	15	43509											
DIAPH1	1729	bcgsc.ca	37	5	140953097	140953097	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr5:140953097T>C	ENST00000398557.4	-	16	2460	c.2320A>G	c.(2320-2322)Aag>Gag	p.K774E	DIAPH1_ENST00000389057.5_Missense_Mutation_p.K765E|DIAPH1_ENST00000398566.3_Missense_Mutation_p.K765E|DIAPH1_ENST00000520569.1_Missense_Mutation_p.K720E|DIAPH1_ENST00000398562.2_Missense_Mutation_p.K753E|DIAPH1_ENST00000389054.3_Missense_Mutation_p.K774E|DIAPH1_ENST00000518047.1_Missense_Mutation_p.K765E|DIAPH1_ENST00000253811.6_Missense_Mutation_p.K774E	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	774	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				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)			ACCTCTGGCTTATAAAGCTTT	0.458																																																0													62	68	66					5																	140953097		1831	4085	5916	SO:0001583	missense	1729			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.2320A>G	5.37:g.140953097T>C	ENSP00000381565:p.Lys774Glu		A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Missense_Mutation	SNP	ENST00000398557.4	37	CCDS43374.1	.	.	.	.	.	.	.	.	.	.	T	16.83	3.231990	0.58777	.	.	ENSG00000131504	ENST00000389054;ENST00000520569;ENST00000398562;ENST00000389057;ENST00000398566;ENST00000398557;ENST00000253811;ENST00000518047;ENST00000546094	T;T;T;T;T;T;T;T	0.17854	2.25;2.25;2.25;2.25;2.25;2.25;2.25;2.25	5.18	3.94	0.45596	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.408429	0.22997	N	0.053126	T	0.29256	0.0728	M	0.64170	1.965	0.46437	D	0.999046	D;D;D	0.56968	0.965;0.978;0.978	P;P;P	0.55615	0.711;0.78;0.78	T	0.01661	-1.1301	10	0.40728	T	0.16	.	10.8348	0.46681	0.0:0.0:0.1582:0.8418	.	720;765;774	E7ERW8;E9PEZ2;O60610	.;.;DIAP1_HUMAN	E	774;720;753;765;765;774;774;765;213	ENSP00000373706:K774E;ENSP00000429282:K720E;ENSP00000381570:K753E;ENSP00000373709:K765E;ENSP00000381572:K765E;ENSP00000381565:K774E;ENSP00000253811:K774E;ENSP00000428268:K765E	ENSP00000253811:K774E	K	-	1	0	DIAPH1	140933281	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.680000	0.68168	1.958000	0.56883	0.482000	0.46254	AAG		0.458	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_005219		C	140953097	T	C	140953097	3	2	744	1	0	0	0	0	1	0	0	0	4520	1763	61	3	1550	3	DIAPH1	5	140953097	Missense_Mutation	SNP	T	TCGA-KO-8403-01A-11D-2310-10	472225	140953097	39962163	16	43510											
MXD3	83463	mdanderson.org	37	5	176734855	176734855	+	Silent	SNP	G	G	C	rs4568379	byFrequency	TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr5:176734855G>C	ENST00000439742.2	-	5	910	c.432C>G	c.(430-432)gcC>gcG	p.A144A	MXD3_ENST00000423571.2_Silent_p.A144A|MXD3_ENST00000513063.1_Silent_p.A144A|MXD3_ENST00000427908.2_Silent_p.A144A	NM_031300.3	NP_112590.1	Q9BW11	MAD3_HUMAN	MAX dimerization protein 3	144					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)					all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	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)			GCTCCCGCTCGGCCGCCCCTG	0.697													G|||	1039	0.207468	0.3555	0.1686	5008	,	,		11663	0.0258		0.2276	False		,,,				2504	0.2014															0								G	,	1112,2786		174,764,1011	8	10	10		432,432	-8.5	0	5	dbSNP_111	10	1622,6156		180,1262,2447	no	coding-synonymous,coding-synonymous	MXD3	NM_001142935.1,NM_031300.3	,	354,2026,3458	CC,CG,GG		20.8537,28.5274,23.4156	,	144/194,144/207	176734855	2734,8942	1949	3889	5838	SO:0001819	synonymous_variant	83463			BC000745	CCDS4416.1, CCDS47347.1	5q35.3	2013-03-20			ENSG00000213347	ENSG00000213347		"MAX dimerization proteins", "Basic helix-loop-helix proteins"	14008	protein-coding gene	gene with protein product		609450					Standard	NM_031300		Approved	MAD3, bHLHc13	uc003mgb.2	Q9BW11	OTTHUMG00000130854	ENST00000439742.2:c.432C>G	5.37:g.176734855G>C			B4E0J1|Q53HK1|Q7Z4Y0|Q8NDJ7|Q96ME3	Silent	SNP	ENST00000439742.2	37	CCDS4416.1																																																																																				0.697	MXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253427.1			C	176734855	G	C	176734855	2	2	744	1	0	0	0	0	0	0	0	1	10002	1103	39	4		4	MXD3	5	176734855	Silent	SNP	G	TCGA-KO-8403-01A-11D-2310-10	35781758	176734855	4180405	17	43511											
BTNL8	79908	broad.mit.edu;bcgsc.ca	37	5	180377222	180377222	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr5:180377222G>A	ENST00000340184.4	+	8	1387	c.1181G>A	c.(1180-1182)cGt>cAt	p.R394H	BTNL8_ENST00000505126.1_Missense_Mutation_p.R187H|BTNL8_ENST00000511704.1_Missense_Mutation_p.R278H|BTNL8_ENST00000508408.1_3'UTR|BTNL8_ENST00000231229.4_3'UTR|BTNL8_ENST00000400707.3_Missense_Mutation_p.R269H|BTNL8_ENST00000533815.2_Missense_Mutation_p.R210H	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	394	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)			TTAAATCCCCGTTTTATCAGC	0.478																																																0													136	120	125					5																	180377222		1976	3815	5791	SO:0001583	missense	79908			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.1181G>A	5.37:g.180377222G>A	ENSP00000342197:p.Arg394His		A4QMZ8|A6NEX6|B7Z409|B7Z5B1|E9PEF6|E9PG07|F2Z2B2|F8W712|Q9H730	Missense_Mutation	SNP	ENST00000340184.4	37	CCDS43413.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.862774	0.00552	.	.	ENSG00000113303	ENST00000340184;ENST00000400707;ENST00000511704;ENST00000505126;ENST00000533815	T;T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43;-0.43	1.85	0.484	0.16825	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.50103	0.1596	L	0.46741	1.465	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	0.32534	-0.9903	9	0.09084	T	0.74	.	4.9321	0.13923	0.8194:0.0:0.1806:0.0	.	269;278;394	E9PG07;E9PEF6;Q6UX41	.;.;BTNL8_HUMAN	H	394;269;278;187;210	ENSP00000342197:R394H;ENSP00000383543:R269H;ENSP00000425207:R278H;ENSP00000427441:R187H;ENSP00000435098:R210H	ENSP00000342197:R394H	R	+	2	0	BTNL8	180309828	0.000000	0.05858	0.003000	0.11579	0.007000	0.05969	-0.081000	0.11321	0.020000	0.15106	-0.634000	0.03986	CGT		0.478	BTNL8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368440.1	NM_024850		A	180377222	G	A	180377222	3	1	744	1	0	0	0	0	1	0	0	0	1569	1145	40	1	1367	1	BTNL8	5	180377222	Missense_Mutation	SNP	G	TCGA-KO-8403-01A-11D-2310-10	3642367	180377222	538038	18	43512											
GLP1R	2740	ucsc.edu	37	6	39033549	39033549	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr6:39033549T>C	ENST00000373256.4	+	4	389	c.346T>C	c.(346-348)Tcc>Ccc	p.S116P		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	116					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)	GAAGGACAACTCCAGCCTGCC	0.652																																																0													44	40	41					6																	39033549		2201	4299	6500	SO:0001583	missense	2740				CCDS4839.1	6p21	2012-08-10			ENSG00000112164	ENSG00000112164		"GPCR / Class B : Glucagon receptors"	4324	protein-coding gene	gene with protein product		138032					Standard	NM_002062		Approved		uc003ooj.4	P43220	OTTHUMG00000014638	ENST00000373256.4:c.346T>C	6.37:g.39033549T>C	ENSP00000362353:p.Ser116Pro		Q2M229|Q99669	Missense_Mutation	SNP	ENST00000373256.4	37	CCDS4839.1	.	.	.	.	.	.	.	.	.	.	T	16.24	3.067526	0.55539	.	.	ENSG00000112164	ENST00000373256	T	0.53423	0.62	4.86	3.62	0.41486	GPCR, family 2, extracellular hormone receptor domain (3);	0.212975	0.33534	N	0.004804	T	0.34629	0.0904	L	0.57536	1.79	0.40686	D	0.982358	P	0.44344	0.833	P	0.46144	0.505	T	0.18903	-1.0322	10	0.40728	T	0.16	.	9.333	0.38034	0.0:0.0:0.1803:0.8197	.	116	P43220	GLP1R_HUMAN	P	116	ENSP00000362353:S116P	ENSP00000362353:S116P	S	+	1	0	GLP1R	39141527	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.890000	0.48609	1.841000	0.53522	0.374000	0.22700	TCC		0.652	GLP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040443.1			C	39033549	T	C	39033549	3	2	744	1	0	0	0	0	1	0	0	0	6454	1551	54	3	360	3	GLP1R	6	39033549	Missense_Mutation	SNP	T	TCGA-KO-8403-01A-11D-2310-10		39033549	132081518	19	43513											
MANEA	79694	mdanderson.org	37	6	96054262	96054262	+	Missense_Mutation	SNP	G	G	A	rs75510775	byFrequency	TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr6:96054262G>A	ENST00000358812.4	+	5	1504	c.1370G>A	c.(1369-1371)cGc>cAc	p.R457H		NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	457	Catalytic. {ECO:0000305}.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		GCATTAGATCGCCAGCTGCCT	0.348													A|||	171	0.0341454	0.0643	0.0375	5008	,	,		14821	0.0		0.0517	False		,,,				2504	0.0082															0								A	HIS/ARG	282,4124	791.0+/-415.1	8,266,1929	44	45	44		1370	4.2	0.1	6	dbSNP_131	44	410,8188	797.4+/-407.4	8,394,3897	yes	missense	MANEA	NM_024641.3	29	16,660,5826	AA,AG,GG		4.7686,6.4004,5.3214	benign	457/463	96054262	692,12312	2203	4299	6502	SO:0001583	missense	79694			AK022900	CCDS5032.1	6q16.2	2008-02-05			ENSG00000172469	ENSG00000172469			21072	protein-coding gene	gene with protein product		612327					Standard	NM_024641		Approved	FLJ12838, mandaselin	uc003poo.2	Q5SRI9	OTTHUMG00000016296	ENST00000358812.4:c.1370G>A	6.37:g.96054262G>A	ENSP00000351669:p.Arg457His		A6H8M6|Q5SRJ0|Q6MZV0|Q70JE9|Q7Z3V7|Q8WWX5|Q9H9D2	Missense_Mutation	SNP	ENST00000358812.4	37	CCDS5032.1	81	0.03708791208791209	31	0.06300813008130081	16	0.04419889502762431	0	0.0	34	0.044854881266490766	A	0.124	-1.122266	0.01785	0.064004	0.047686	ENSG00000172469	ENST00000358812	.	.	.	5.36	4.19	0.49359	.	0.587085	0.16595	N	0.207606	T	0.05868	0.0153	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35748	-0.9776	9	0.30854	T	0.27	-1.1404	5.6151	0.17426	0.7418:0.1717:0.0866:0.0	.	457	Q5SRI9	MANEA_HUMAN	H	457	.	ENSP00000351669:R457H	R	+	2	0	MANEA	96160983	0.001000	0.12720	0.092000	0.20876	0.063000	0.16089	1.056000	0.30480	0.475000	0.27415	-0.254000	0.11334	CGC		0.348	MANEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043644.1	NM_024641		A	96054262	G	A	96054262	3	1	744	1	0	0	0	0	1	0	0	0	9223	1087	38	1	1384	1	MANEA	6	96054262	Missense_Mutation	SNP	G	TCGA-KO-8403-01A-11D-2310-10	57020713	96054262	75060805	20	43514											
SERINC1	57515	broad.mit.edu	37	6	122768108	122768108	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr6:122768108A>G	ENST00000339697.4	-	9	1121	c.1037T>C	c.(1036-1038)cTa>cCa	p.L346P		NM_020755.2	NP_065806.1	Q9NRX5	SERC1_HUMAN	serine incorporator 1	346					L-serine transport (GO:0015825)|phosphatidylserine metabolic process (GO:0006658)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1)	13				GBM - Glioblastoma multiforme(226;0.126)		ATCACTTGTTAGAGTCAGTTT	0.368																																																0													104	97	99					6																	122768108		2203	4300	6503	SO:0001583	missense	57515			AF087902	CCDS5125.1	6q22.32	2006-02-09	2005-10-14	2005-10-14	ENSG00000111897	ENSG00000111897			13464	protein-coding gene	gene with protein product		614548	"tumor differentially expressed 2"	TDE2		10637174	Standard	NM_020755		Approved	TMS-2, TDE1L, KIAA1253	uc003pyy.1	Q9NRX5	OTTHUMG00000015487	ENST00000339697.4:c.1037T>C	6.37:g.122768108A>G	ENSP00000342962:p.Leu346Pro		B3KY69|E1P565|O75655|Q7Z2F5|Q8TAG1|Q9NTH8|Q9ULG7	Missense_Mutation	SNP	ENST00000339697.4	37	CCDS5125.1	.	.	.	.	.	.	.	.	.	.	A	16.45	3.126057	0.56721	.	.	ENSG00000111897	ENST00000339697;ENST00000368454	T;T	0.19250	2.16;2.16	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.35941	0.0949	M	0.81802	2.56	0.80722	D	1	D	0.60575	0.988	D	0.68943	0.961	T	0.17077	-1.0381	10	0.24483	T	0.36	-9.7399	15.4194	0.75000	1.0:0.0:0.0:0.0	.	346	Q9NRX5	SERC1_HUMAN	P	346	ENSP00000342962:L346P;ENSP00000357439:L346P	ENSP00000342962:L346P	L	-	2	0	SERINC1	122809807	1.000000	0.71417	0.962000	0.40283	0.891000	0.51852	7.436000	0.80404	2.048000	0.60808	0.528000	0.53228	CTA		0.368	SERINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042031.2	NM_020755		G	122768108	A	G	122768108	3	3	744	1	0	0	0	0	1	0	0	0	14085	420	15	3	332	3	SERINC1	6	122768108	Missense_Mutation	SNP	A	TCGA-KO-8403-01A-11D-2310-10	26713846	122768108	48346959	21	43515											
WIPF3	644150	broad.mit.edu	37	7	29924145	29924146	+	Frame_Shift_Ins	INS	-	-	C	rs572323909		TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr7:29924145_29924146insC	ENST00000409290.1	+	4	1035_1036	c.1035_1036insC	c.(1036-1038)cccfs	p.P346fs	WIPF3_ENST00000409123.1_Frame_Shift_Ins_p.P346fs|WIPF3_ENST00000242140.5_Frame_Shift_Ins_p.P346fs	NM_001080529.2	NP_001073998.2	A6NGB9	WIPF3_HUMAN	WAS/WASL interacting protein family, member 3	346					cell differentiation (GO:0030154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)				breast(2)|large_intestine(3)|lung(6)|ovary(1)	12						CGCAGGCCTTGCCCGCCCCGCC	0.673																																																0																																										SO:0001589	frameshift_variant	644150			AK094250	CCDS56472.1	7p15.1	2006-10-12			ENSG00000122574	ENSG00000122574			22004	protein-coding gene	gene with protein product		612432					Standard	NM_001080529		Approved	CR16, FLJ36931	uc022aaz.1	A6NGB9	OTTHUMG00000152761	ENST00000409290.1:c.1038dupC	7.37:g.29924148_29924148dupC	ENSP00000386878:p.Pro346fs		B8ZZV2	Frame_Shift_Ins	INS	ENST00000409290.1	37	CCDS56472.1																																																																																				0.673	WIPF3-002	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327705.1			C	29924146	-	C	29924145	7	5	744	1	0	1	1	0	0	0	0	0	17374	1310	46	0	1049	0	WIPF3	7	29924145	Frame_Shift_Ins	INS	-	TCGA-KO-8403-01A-11D-2310-10		29924145	129214518	22	43516											
SLC39A4	55630	mdanderson.org	37	8	145641564	145641564	+	Missense_Mutation	SNP	T	T	G	rs2280839	byFrequency	TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr8:145641564T>G	ENST00000276833.5	-	1	332	c.29A>C	c.(28-30)gAa>gCa	p.E10A	SLC39A4_ENST00000301305.3_Intron|SLC39A4_ENST00000531013.1_5'Flank	NM_001280557.1|NM_017767.2	NP_001267486.1|NP_060237	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	0					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)			AGGGCCTGTTTCCCTTTCAAG	0.662													T|||	2174	0.434105	0.4561	0.4135	5008	,	,		15139	0.38		0.5268	False		,,,				2504	0.3793															0								T	ALA/GLU,	1914,2120		462,990,565	27	34	32		29,	-3.1	0	8	dbSNP_100	32	4429,3911		1205,2019,946	yes	missense,intron	SLC39A4	NM_017767.2,NM_130849.2	107,	1667,3009,1511	GG,GT,TT		46.8945,47.4467,48.7393	,	10/623,	145641564	6343,6031	2017	4170	6187	SO:0001583	missense	55630			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		ENST00000276833.5:c.29A>C	8.37:g.145641564T>G	ENSP00000276833:p.Glu10Ala		Q7L5S5|Q9H6T8|Q9NXC4	Missense_Mutation	SNP	ENST00000276833.5	37	CCDS43782.1	1061	0.4858058608058608	242	0.491869918699187	166	0.4585635359116022	238	0.4160839160839161	415	0.5474934036939314	T	13.03	2.114534	0.37339	0.474467	0.531055	ENSG00000147804	ENST00000276833	T	0.61627	0.09	3.0	-3.1	0.05315	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.45396	-0.9264	8	0.87932	D	0	.	5.3	0.15773	0.0:0.5884:0.1949:0.2167	rs2280839;rs61327800;rs2280839	10	A6NDY5	.	A	10	ENSP00000276833:E10A	ENSP00000276833:E10A	E	-	2	0	SLC39A4	145612372	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-0.695000	0.05109	-0.557000	0.06126	0.254000	0.18369	GAA		0.662	SLC39A4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000382687.2			G	145641564	T	G	145641564	3	3	744	1	0	0	0	0	1	0	0	0	14626	1783	62	5	1883	5	SLC39A4	8	145641564	Missense_Mutation	SNP	T	TCGA-KO-8403-01A-11D-2310-10		145641564	722458	23	43517											
ISCA1	81689	hgsc.bcm.edu;ucsc.edu	37	9	88897335	88897335	+	Silent	SNP	C	C	A			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr9:88897335C>A	ENST00000375991.4	-	1	109	c.39G>T	c.(37-39)gtG>gtT	p.V13V	ISCA1_ENST00000311534.6_5'Flank|ISCA1_ENST00000452279.2_Silent_p.V60V|ISCA1_ENST00000326094.4_Silent_p.V13V	NM_030940.3	NP_112202.2	Q9BUE6	ISCA1_HUMAN	iron-sulfur cluster assembly 1	13					iron-sulfur cluster assembly (GO:0016226)	mitochondrion (GO:0005739)	iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)	8				OV - Ovarian serous cystadenocarcinoma(323;5.4e-34)|Lung(182;0.0375)		TCCTCTTGCTCACAGCCCGGA	0.706																																																0													7	7	7					9																	88897335		2128	4176	6304	SO:0001819	synonymous_variant	81689			AF038186	CCDS35056.1	9q22.1	2013-08-06	2013-08-06	2007-01-18	ENSG00000135070	ENSG00000135070			28660	protein-coding gene	gene with protein product		611006	"HESB like domain containing 2", "iron-sulfur cluster assembly 1 homolog (S. cerevisiae)"	HBLD2		15262227, 22323289	Standard	NM_030940		Approved	MGC4276, ISA1, hIscA	uc004aop.3	Q9BUE6	OTTHUMG00000020135	ENST00000375991.4:c.39G>T	9.37:g.88897335C>A			B3KP34|B4DJI5|Q8ND75|Q9BZR2	Silent	SNP	ENST00000375991.4	37	CCDS35056.1																																																																																				0.706	ISCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052914.1	NM_030940		A	88897335	C	A	88897335	2	1	744	1	0	0	0	0	0	0	0	1	7851	813	29	4		4	ISCA1	9	88897335	Silent	SNP	C	TCGA-KO-8403-01A-11D-2310-10		88897335	52316096	24	43518											
SIRT3	23410	broad.mit.edu;hgsc.bcm.edu	37	11	216703	216706	+	Frame_Shift_Del	DEL	TGTC	TGTC	-			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	TGTC	TGTC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr11:216703_216706delTGTC	ENST00000382743.4	-	7	1294_1297	c.1192_1195delGACA	c.(1192-1197)gacaaafs	p.DK398fs	SIRT3_ENST00000524564.1_Frame_Shift_Del_p.DK352fs|SIRT3_ENST00000532956.1_Frame_Shift_Del_p.DK344fs|SIRT3_ENST00000529382.1_Frame_Shift_Del_p.DK256fs|SIRT3_ENST00000525319.1_Frame_Shift_Del_p.DK317fs	NM_001017524.2|NM_012239.5	NP_001017524.1|NP_036371.1	Q9NTG7	SIR3_HUMAN	sirtuin 3	398					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)		TCATCCTATTTGTCTGGTCCATCA	0.49																																																0																																										SO:0001589	frameshift_variant	23410			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.1192_1195delGACA	11.37:g.216703_216706delTGTC	ENSP00000372191:p.Asp398fs		B7Z5U6|Q9Y6E8	Frame_Shift_Del	DEL	ENST00000382743.4	37	CCDS7691.1																																																																																				0.49	SIRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239288.3			-	216706	TGTC	-	216703	7	5	744	1	0	1	0	1	0	0	0	0	14345	1821	63	0	8	0	SIRT3	11	216703	Frame_Shift_Del	DEL	TGTC	TCGA-KO-8403-01A-11D-2310-10		216703	134789813	25	43519	425	2									
SIRT3	23410	bcgsc.ca	37	11	216704	216707	+	Frame_Shift_Del	DEL	TGTC	TGTC	-			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	TGTC	TGTC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr11:216704_216707delTGTC	ENST00000382743.4	-	7	1293_1296	c.1191_1194delGACA	c.(1189-1194)ccgacafs	p.PT397fs	SIRT3_ENST00000524564.1_Frame_Shift_Del_p.PT351fs|SIRT3_ENST00000532956.1_Frame_Shift_Del_p.PT343fs|SIRT3_ENST00000529382.1_Frame_Shift_Del_p.PT255fs|SIRT3_ENST00000525319.1_Frame_Shift_Del_p.PT316fs	NM_001017524.2|NM_012239.5	NP_001017524.1|NP_036371.1	Q9NTG7	SIR3_HUMAN	sirtuin 3	397					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)		CATCCTATTTGTCTGGTCCATCAA	0.49																																																0																																										SO:0001589	frameshift_variant	23410			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.1191_1194delGACA	11.37:g.216704_216707delTGTC	ENSP00000372191:p.Pro397fs		B7Z5U6|Q9Y6E8	Frame_Shift_Del	DEL	ENST00000382743.4	37	CCDS7691.1																																																																																				0.49	SIRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239288.3			-	216707	TGTC	-	216704	7	5	744	1	0	1	0	1	0	0	0	0	14345	1368	48	0	9	0	SIRT3	11	216704	Frame_Shift_Del	DEL	TGTC	TCGA-KO-8403-01A-11D-2310-10	1	216704	134789812	26	43520	425	2									
MUC6	4588	mdanderson.org	37	11	1018459	1018459	+	Missense_Mutation	SNP	G	G	T	rs199760270		TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr11:1018459G>T	ENST00000421673.2	-	31	4392	c.4342C>A	c.(4342-4344)Cca>Aca	p.P1448T		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1448	Pro-rich.|Thr-rich.				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)		GAGAAAGGTGGAACGTGAGTG	0.562																																																0													301	305	304					11																	1018459		2193	4286	6479	SO:0001583	missense	4588			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.4342C>A	11.37:g.1018459G>T	ENSP00000406861:p.Pro1448Thr		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	6.967	0.548385	0.13312	.	.	ENSG00000184956	ENST00000421673	T	0.28069	1.63	2.52	0.443	0.16587	.	.	.	.	.	T	0.26376	0.0644	M	0.64404	1.975	0.09310	N	1	P	0.37330	0.59	B	0.34138	0.176	T	0.15037	-1.0451	9	0.56958	D	0.05	.	5.5406	0.17036	0.132:0.2038:0.6642:0.0	.	1448	Q6W4X9	MUC6_HUMAN	T	1448	ENSP00000406861:P1448T	ENSP00000406861:P1448T	P	-	1	0	MUC6	1008459	0.009000	0.17119	0.001000	0.08648	0.009000	0.06853	0.061000	0.14366	-0.023000	0.13963	0.306000	0.20318	CCA		0.562	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		T	1018459	G	T	1018459	3	4	744	1	0	0	0	0	1	0	0	0	9982	1174	41	4	2989	4	MUC6	11	1018459	Missense_Mutation	SNP	G	TCGA-KO-8403-01A-11D-2310-10	801755	1018459	133988057	27	43521			1	107		2	2	15	N	G_A	2.62298e-05
MUC6	4588	mdanderson.org	37	11	1018473	1018473	+	Missense_Mutation	SNP	A	A	T	rs112923701		TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr11:1018473A>T	ENST00000421673.2	-	31	4378	c.4328T>A	c.(4327-4329)cTt>cAt	p.L1443H		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1443	Pro-rich.|Thr-rich.				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)		GTGAGTGGGAAGTGTGGTCTC	0.572																																																0													284	287	286					11																	1018473		2187	4280	6467	SO:0001583	missense	4588			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.4328T>A	11.37:g.1018473A>T	ENSP00000406861:p.Leu1443His		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	A	2.872	-0.233789	0.05983	.	.	ENSG00000184956	ENST00000421673	T	0.25414	1.8	1.86	-0.708	0.11241	.	.	.	.	.	T	0.30603	0.0770	L	0.61218	1.895	0.09310	N	1	D	0.63880	0.993	P	0.52881	0.712	T	0.15752	-1.0426	9	0.56958	D	0.05	.	2.8343	0.05509	0.4089:0.2608:0.3303:0.0	.	1443	Q6W4X9	MUC6_HUMAN	H	1443	ENSP00000406861:L1443H	ENSP00000406861:L1443H	L	-	2	0	MUC6	1008473	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-1.485000	0.02314	-0.173000	0.10761	0.254000	0.18369	CTT		0.572	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		T	1018473	A	T	1018473	3	4	744	1	0	0	0	0	1	0	0	0	9982	72	3	5	3003	5	MUC6	11	1018473	Missense_Mutation	SNP	A	TCGA-KO-8403-01A-11D-2310-10	14	1018473	133988043	28	43522			1	107		2	2	15	N	G_A	2.62298e-05
MUC2	4583	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	11	1075670	1075670	+	Silent	SNP	C	C	T			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr11:1075670C>T	ENST00000441003.2	+	2	123	c.96C>T	c.(94-96)caC>caT	p.H32H	MUC2_ENST00000359061.5_Silent_p.H32H	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	32					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)	CCCGAAACCACGGCCACAACG	0.652																																																0													30	35	33					11																	1075670		2136	4231	6367	SO:0001819	synonymous_variant	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.96C>T	11.37:g.1075670C>T			Q14878	Silent	SNP	ENST00000441003.2	37																																																																																					0.652	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		T	1075670	C	T	1075670	2	4	744	1	0	0	0	0	0	0	0	1	9977	535	19	1		1	MUC2	11	1075670	Silent	SNP	C	TCGA-KO-8403-01A-11D-2310-10	57197	1075670	133930846	29	43523											
ZDHHC13	54503	broad.mit.edu	37	11	19170858	19170858	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr11:19170858T>C	ENST00000446113.2	+	5	620	c.499T>C	c.(499-501)Tat>Cat	p.Y167H	ZDHHC13_ENST00000399351.3_Missense_Mutation_p.Y37H|ZDHHC13_ENST00000532812.1_3'UTR	NM_019028.2	NP_061901.2	Q8IUH4	ZDH13_HUMAN	zinc finger, DHHC-type containing 13	167					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						TATTATAGCATATCTCATCTC	0.408																																																0													77	67	70					11																	19170858		1880	4111	5991	SO:0001583	missense	54503			AB024495	CCDS44550.1, CCDS44551.1	11p15.1	2013-01-10			ENSG00000177054	ENSG00000177054		"Zinc fingers, DHHC-type", "Ankyrin repeat domain containing"	18413	protein-coding gene	gene with protein product		612815				18794299	Standard	NM_001001483		Approved	FLJ10852, FLJ10941, HIP14L	uc001mpi.3	Q8IUH4	OTTHUMG00000166099	ENST00000446113.2:c.499T>C	11.37:g.19170858T>C	ENSP00000400113:p.Tyr167His		Q7Z2D3|Q86VK2|Q9NV30|Q9NV99	Missense_Mutation	SNP	ENST00000446113.2	37	CCDS44550.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.582144	0.86748	.	.	ENSG00000177054	ENST00000446113;ENST00000399351	T;T	0.66460	-0.21;-0.18	5.79	5.79	0.91817	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.79673	0.4486	M	0.64260	1.97	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79356	-0.1837	9	.	.	.	-11.0759	15.7882	0.78326	0.0:0.0:0.0:1.0	.	167	Q8IUH4	ZDH13_HUMAN	H	167;37	ENSP00000400113:Y167H;ENSP00000382288:Y37H	.	Y	+	1	0	ZDHHC13	19127434	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.698000	0.84413	2.205000	0.71048	0.455000	0.32223	TAT		0.408	ZDHHC13-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387821.1	NM_019028		C	19170858	T	C	19170858	3	2	744	1	0	0	0	0	1	0	0	0	17608	1406	49	3	517	3	ZDHHC13	11	19170858	Missense_Mutation	SNP	T	TCGA-KO-8403-01A-11D-2310-10	18095188	19170858	115835658	30	43524											
DSCAML1	57453	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	11	117307845	117307845	+	Silent	SNP	G	G	A			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr11:117307845G>A	ENST00000321322.6	-	26	4894	c.4893C>T	c.(4891-4893)taC>taT	p.Y1631Y	DSCAML1_ENST00000527706.1_Silent_p.Y1361Y	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1571					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)		CACTGCCATCGTAGTCCAGGG	0.592																																																0													69	64	66					11																	117307845		2201	4296	6497	SO:0001819	synonymous_variant	57453				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.4893C>T	11.37:g.117307845G>A			Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Silent	SNP	ENST00000321322.6	37	CCDS8384.1																																																																																				0.592	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		A	117307845	G	A	117307845	2	1	744	1	0	0	0	0	0	0	0	1	4771	1140	40	1		1	DSCAML1	11	117307845	Silent	SNP	G	TCGA-KO-8403-01A-11D-2310-10	98136987	117307845	17698671	31	43525											
CHD4	1108	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	6702730	6702730	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr12:6702730T>C	ENST00000357008.2	-	16	2529	c.2366A>G	c.(2365-2367)aAc>aGc	p.N789S	CHD4_ENST00000544040.1_Missense_Mutation_p.N782S|CHD4_ENST00000544484.1_Missense_Mutation_p.N786S|CHD4_ENST00000309577.6_Missense_Mutation_p.N789S	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	789	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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						CCGCTCCCAGTTGATGATGGT	0.532																																					Colon(32;586 792 4568 16848 45314)											0													98	95	96					12																	6702730		2203	4300	6503	SO:0001583	missense	1108			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"Zinc fingers, PHD-type"	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.2366A>G	12.37:g.6702730T>C	ENSP00000349508:p.Asn789Ser		Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.374532	0.82573	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.93953	-3.32;-3.32;-3.32;-3.32	4.8	4.8	0.61643	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.97173	0.9076	M	0.91196	3.185	0.80722	D	1	D;D;D	0.76494	0.999;0.974;0.996	D;P;D	0.77557	0.99;0.897;0.98	D	0.98107	1.0418	10	0.87932	D	0	-0.1448	14.5214	0.67853	0.0:0.0:0.0:1.0	.	789;789;782	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	S	786;782;789;789;763	ENSP00000440392:N786S;ENSP00000440542:N782S;ENSP00000312419:N789S;ENSP00000349508:N789S	ENSP00000312419:N789S	N	-	2	0	CHD4	6572991	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.841000	0.86834	2.017000	0.59298	0.482000	0.46254	AAC		0.532	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		C	6702730	T	C	6702730	3	2	744	1	0	0	0	0	1	0	0	0	3329	1725	60	3	3472	3	CHD4	12	6702730	Missense_Mutation	SNP	T	TCGA-KO-8403-01A-11D-2310-10		6702730	127149165	32	43526											
DPPA3	359787	broad.mit.edu	37	12	7868798	7868798	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr12:7868798A>G	ENST00000345088.2	+	3	449	c.332A>G	c.(331-333)gAa>gGa	p.E111G		NM_199286.2	NP_954980.1	Q6W0C5	DPPA3_HUMAN	developmental pluripotency associated 3	111					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)		ATGAAGCATGAAAGAAGACCA	0.294																																																0													47	53	51					12																	7868798		2203	4300	6503	SO:0001583	missense	359787			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.332A>G	12.37:g.7868798A>G	ENSP00000339250:p.Glu111Gly		Q0P5U3|Q6JZS6	Missense_Mutation	SNP	ENST00000345088.2	37	CCDS8582.1	.	.	.	.	.	.	.	.	.	.	A	5.779	0.327999	0.10956	.	.	ENSG00000187569	ENST00000345088	T	0.47177	0.85	2.12	-0.41	0.12374	.	.	.	.	.	T	0.22551	0.0544	N	0.08118	0	0.09310	N	1	B	0.30889	0.299	B	0.30029	0.11	T	0.18241	-1.0343	9	0.72032	D	0.01	-3.4822	2.5685	0.04789	0.5393:0.2872:0.1735:0.0	.	111	Q6W0C5	DPPA3_HUMAN	G	111	ENSP00000339250:E111G	ENSP00000339250:E111G	E	+	2	0	DPPA3	7760065	0.001000	0.12720	0.001000	0.08648	0.002000	0.02628	0.090000	0.15025	-0.092000	0.12417	-0.782000	0.03352	GAA		0.294	DPPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399718.1	NM_199286		G	7868798	A	G	7868798	3	3	744	1	0	0	0	0	1	0	0	0	4737	246	9	3	342	3	DPPA3	12	7868798	Missense_Mutation	SNP	A	TCGA-KO-8403-01A-11D-2310-10	1166068	7868798	125983097	33	43527											
HNF1A	6927	broad.mit.edu	37	12	121426736	121426736	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr12:121426736C>T	ENST00000257555.6	+	2	653	c.427C>T	c.(427-429)Cac>Tac	p.H143Y	HNF1A_ENST00000544413.1_Missense_Mutation_p.H143Y|HNF1A_ENST00000402929.1_Missense_Mutation_p.H143Y|HNF1A_ENST00000400024.2_Missense_Mutation_p.H143Y|HNF1A_ENST00000543427.1_Missense_Mutation_p.H26Y|HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000541395.1_Missense_Mutation_p.H143Y			P20823	HNF1A_HUMAN	HNF1 homeobox A	143	Interaction with DNA.		H -> Y (in MODY3; expected to interfere with DNA binding). {ECO:0000269|PubMed:10102714, ECO:0000269|PubMed:9075819}.		glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|insulin secretion (GO:0030073)|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)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|renal glucose absorption (GO:0035623)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CAACCAGTCCCACCTGTCCCA	0.632									Hepatic Adenoma, Familial Clustering of																																							0			GRCh37	CD083323|CM971449	HNF1A	D|M							167	124	139					12																	121426736		2203	4300	6503	SO:0001583	missense	6927	Familial Cancer Database	incl. Maturity-Onset Diabetes of the Young type 3, MODY3	M57732	CCDS9209.1	12q24.31	2014-09-17	2007-08-24	2007-08-24	ENSG00000135100	ENSG00000135100		"Homeoboxes / HNF class"	11621	protein-coding gene	gene with protein product		142410	"transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor"	MODY3, TCF1		1535333, 7795649	Standard	NM_000545		Approved	HNF1, LFB1	uc001tzg.3	P20823	OTTHUMG00000151015	ENST00000257555.6:c.427C>T	12.37:g.121426736C>T	ENSP00000257555:p.His143Tyr		A5Z2R8|E0YMJ5|E0YMK0|E0YMK1|E2I9R4|E2I9R5|F5H5U3|Q2M3H2|Q99861	Missense_Mutation	SNP	ENST00000257555.6	37	CCDS9209.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.597685	0.87055	.	.	ENSG00000135100	ENST00000257555;ENST00000535125;ENST00000543536;ENST00000544680;ENST00000537424;ENST00000543027;ENST00000543427;ENST00000545458;ENST00000541395;ENST00000340577;ENST00000344370;ENST00000544413	D;D;D;D	0.99369	-5.78;-5.78;-5.78;-5.78	5.08	5.08	0.68730	Hepatocyte nuclear factor 1, N-terminal (1);Lambda repressor-like, DNA-binding (2);	0.000000	0.85682	D	0.000000	D	0.99137	0.9702	L	0.51422	1.61	0.80722	D	1	D;D;D;D	0.89917	1.0;0.997;1.0;1.0	D;D;D;D	0.97110	1.0;0.987;0.999;0.999	D	0.99892	1.1137	10	0.87932	D	0	-14.2594	17.4482	0.87584	0.0:1.0:0.0:0.0	.	143;143;143;143	F5H0K0;P20823;E7EUQ4;E7EMR0	.;HNF1A_HUMAN;.;.	Y	143;143;143;143;143;143;26;143;143;143;143;143	ENSP00000257555:H143Y;ENSP00000439721:H26Y;ENSP00000443112:H143Y;ENSP00000438804:H143Y	ENSP00000257555:H143Y	H	+	1	0	HNF1A	119911119	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.429000	0.80309	2.348000	0.79779	0.530000	0.56133	CAC		0.632	HNF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320957.5	NM_000545		T	121426736	C	T	121426736	3	4	744	1	0	0	0	0	1	0	0	0	7253	594	21	2	433	2	HNF1A	12	121426736	Missense_Mutation	SNP	C	TCGA-KO-8403-01A-11D-2310-10	113557938	121426736	12425159	34	43528											
KNTC1	9735	broad.mit.edu	37	12	123075242	123075242	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr12:123075242A>G	ENST00000333479.7	+	41	4265	c.4088A>G	c.(4087-4089)aAg>aGg	p.K1363R	KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1363					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)		AATCTCTGGAAGCTCATAGAT	0.403																																																0													163	152	156					12																	123075242		1859	4090	5949	SO:0001583	missense	9735				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.4088A>G	12.37:g.123075242A>G	ENSP00000328236:p.Lys1363Arg		A7E2C4|B3KSG2	Missense_Mutation	SNP	ENST00000333479.7	37	CCDS45002.1	.	.	.	.	.	.	.	.	.	.	A	16.77	3.216136	0.58452	.	.	ENSG00000184445	ENST00000333479	T	0.13778	2.56	5.6	5.6	0.85130	.	0.437138	0.28577	N	0.014851	T	0.14227	0.0344	L	0.56769	1.78	0.80722	D	1	B	0.33583	0.418	B	0.29942	0.109	T	0.05131	-1.0904	10	0.26408	T	0.33	-12.7695	11.7177	0.51663	0.9289:0.0:0.0711:0.0	.	1363	P50748	KNTC1_HUMAN	R	1363	ENSP00000328236:K1363R	ENSP00000328236:K1363R	K	+	2	0	KNTC1	121641195	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.660000	0.68018	2.140000	0.66376	0.477000	0.44152	AAG		0.403	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			G	123075242	A	G	123075242	3	3	744	1	0	0	0	0	1	0	0	0	8430	72	3	3	4246	3	KNTC1	12	123075242	Missense_Mutation	SNP	A	TCGA-KO-8403-01A-11D-2310-10	1648506	123075242	10776653	35	43529											
POTEM	641455	broad.mit.edu	37	14	20019957	20019957	+	Silent	SNP	G	G	A	rs28578761		TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr14:20019957G>A	ENST00000551509.1	-	1	315	c.264C>T	c.(262-264)gaC>gaT	p.D88D		NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	88								p.D88D(2)		endometrium(4)|kidney(1)|lung(4)	9						TCATAGCAGAGTCGTCGTGGT	0.627																																																2	Substitution - coding silent(2)	kidney(2)											8	15	13					14																	20019957		319	1136	1455	SO:0001819	synonymous_variant	641455				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.264C>T	14.37:g.20019957G>A				Silent	SNP	ENST00000551509.1	37	CCDS45076.1																																																																																				0.627	POTEM-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409490.3	NM_001145442		A	20019957	G	A	20019957	2	1	744	1	0	0	0	0	0	0	0	1	12270	1020	36	2		2	POTEM	14	20019957	Silent	SNP	G	TCGA-KO-8403-01A-11D-2310-10		20019957	87329583	36	43530											
SIX4	51804	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	14	61186805	61186805	+	Missense_Mutation	SNP	T	T	A			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr14:61186805T>A	ENST00000216513.4	-	2	1281	c.1222A>T	c.(1222-1224)Act>Tct	p.T408S		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	408					anatomical structure morphogenesis (GO:0009653)|embryonic cranial skeleton morphogenesis (GO:0048701)|generation of neurons (GO:0048699)|inner ear morphogenesis (GO:0042472)|metanephric mesenchyme development (GO:0072075)|myoblast migration (GO:0051451)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		AGTATGTCAGTCATGGATATA	0.463																																																0													133	108	116					14																	61186805		2203	4300	6503	SO:0001583	missense	51804			AB024687	CCDS9749.2	14q23.1	2012-10-02	2007-07-13		ENSG00000100625	ENSG00000100625		"Homeoboxes / SINE class"	10890	protein-coding gene	gene with protein product		606342	"sine oculis homeobox (Drosophila) homolog 4", "sine oculis homeobox homolog 4 (Drosophila)"			10512683, 10640827	Standard	NM_017420		Approved	AREC3	uc001xfc.3	Q9UIU6	OTTHUMG00000028996	ENST00000216513.4:c.1222A>T	14.37:g.61186805T>A	ENSP00000216513:p.Thr408Ser		Q4QQH5|Q4V764	Missense_Mutation	SNP	ENST00000216513.4	37	CCDS9749.2	.	.	.	.	.	.	.	.	.	.	T	15.65	2.897604	0.52121	.	.	ENSG00000100625	ENST00000216513;ENST00000554079;ENST00000556952	D;T	0.90620	-2.7;0.82	5.72	4.59	0.56863	.	0.202408	0.42053	N	0.000764	T	0.80969	0.4726	N	0.19112	0.55	0.20975	N	0.999816	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.65076	-0.6256	10	0.23302	T	0.38	.	8.4514	0.32873	0.0:0.1448:0.0:0.8552	.	400;408	G3V2N2;Q9UIU6	.;SIX4_HUMAN	S	408;81;400	ENSP00000216513:T408S;ENSP00000451537:T81S	ENSP00000216513:T408S	T	-	1	0	SIX4	60256558	0.985000	0.35326	1.000000	0.80357	0.997000	0.91878	1.638000	0.37165	2.194000	0.70268	0.533000	0.62120	ACT		0.463	SIX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072397.2			A	61186805	T	A	61186805	3	1	744	1	0	0	0	0	1	0	0	0	14355	1667	58	5	1131	5	SIX4	14	61186805	Missense_Mutation	SNP	T	TCGA-KO-8403-01A-11D-2310-10	41166848	61186805	46162735	37	43531											
FAM98B	283742	broad.mit.edu	37	15	38776624	38776626	+	IGR	DEL	AGA	AGA	-			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	AGA	AGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr15:38776624_38776626delAGA	ENST00000491535.1	+	0	3111				FAM98B_ENST00000397609.2_In_Frame_Del_p.R356del	NM_001042429.1	NP_001035894.1	Q52LJ0	FA98B_HUMAN	family with sequence similarity 98, member B							cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-splicing ligase complex (GO:0072669)	poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8		all_cancers(109;3.11e-17)|all_epithelial(112;2.64e-15)|Lung NSC(122;2.11e-11)|all_lung(180;5.61e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;9e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0209)		tgggggtgggagaggtggctggg	0.68																																																0																																										SO:0001628	intergenic_variant	283742				CCDS10047.2	15q14	2006-11-29		2005-11-20	ENSG00000171262	ENSG00000171262			26773	protein-coding gene	gene with protein product						12477932	Standard	NM_173611		Approved	FLJ38426	uc001zkc.3	Q52LJ0	OTTHUMG00000129831		15.37:g.38776624_38776626delAGA			A8MUW5|Q8N935	In_Frame_Del	DEL	ENST00000491535.1	37	CCDS42015.1																																																																																				0.68	FAM98B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252071.2	NM_173611		-	38776626	AGA	-	38776624	6	5	744	0	1	1	0	1	0	0	0	0	5659	296	11	0		0	FAM98B	15	38776624	IGR	DEL	AGA	TCGA-KO-8403-01A-11D-2310-10		38776624	63754768	38	43532											
SPTBN5	51332	mdanderson.org	37	15	42159290	42159290	+	Missense_Mutation	SNP	C	C	T	rs2290553	byFrequency	TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr15:42159290C>T	ENST00000320955.6	-	36	6574	c.6347G>A	c.(6346-6348)cGg>cAg	p.R2116Q	MIR4310_ENST00000582950.1_RNA	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2116					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)		CCGGGGGCGCCGGAGCGTCTT	0.736													c|||	711	0.141973	0.034	0.1671	5008	,	,		14161	0.0446		0.2833	False		,,,				2504	0.2249															0								C	GLN/ARG	191,3125		13,165,1480	3	4	4		6242	-4.3	0	15	dbSNP_100	4	1708,5692		230,1248,2222	no	missense	SPTBN5	NM_016642.2	43	243,1413,3702	TT,TC,CC		23.0811,5.76,17.7212	possibly-damaging	2081/3640	42159290	1899,8817	1658	3700	5358	SO:0001583	missense	51332			AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"beta V spectrin"	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.6347G>A	15.37:g.42159290C>T	ENSP00000317790:p.Arg2116Gln			Missense_Mutation	SNP	ENST00000320955.6	37		308	0.14102564102564102	20	0.04065040650406504	61	0.1685082872928177	19	0.033216783216783216	208	0.27440633245382584	.	9.097	1.003238	0.19121	0.0576	0.230811	ENSG00000137877	ENST00000320955	T	0.47177	0.85	4.61	-4.26	0.03755	.	1.848070	0.02996	N	0.147432	T	0.00012	0.0000	N	0.25647	0.755	0.80722	P	0.0	B	0.25743	0.133	B	0.17098	0.017	T	0.09292	-1.0681	9	0.14252	T	0.57	.	6.4787	0.22051	0.0:0.4092:0.1605:0.4303	rs2290553;rs17736981	2116	Q9NRC6	SPTN5_HUMAN	Q	2116	ENSP00000317790:R2116Q	ENSP00000317790:R2116Q	R	-	2	0	SPTBN5	39946582	0.000000	0.05858	0.000000	0.03702	0.114000	0.19823	-0.487000	0.06505	-0.666000	0.05310	-0.389000	0.06534	CGG		0.736	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		T	42159290	C	T	42159290	3	4	744	1	0	0	0	0	1	0	0	0	15127	652	23	1	4809	1	SPTBN5	15	42159290	Missense_Mutation	SNP	C	TCGA-KO-8403-01A-11D-2310-10	3382666	42159290	60372102	39	43533											
MTFMT	123263	hgsc.bcm.edu	37	15	65321780	65321780	+	Missense_Mutation	SNP	A	A	T	rs188718836	byFrequency	TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr15:65321780A>T	ENST00000220058.4	-	1	185	c.172T>A	c.(172-174)Ttc>Atc	p.F58I	MTFMT_ENST00000561025.1_5'Flank	NM_139242.3	NP_640335.2	Q96DP5	FMT_HUMAN	mitochondrial methionyl-tRNA formyltransferase	58						mitochondrion (GO:0005739)	methionyl-tRNA formyltransferase activity (GO:0004479)			endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10					Tetrahydrofolic acid(DB00116)	TCGCGGGCGAACTGGTCCGTG	0.761													A|||	27	0.00539137	0.0008	0.0058	5008	,	,		9222	0.0		0.0119	False		,,,				2504	0.0102															0								A	ILE/PHE	5,2325		0,5,1160	2	3	2		172	3.6	0.5	15		2	49,5611		0,49,2781	yes	missense	MTFMT	NM_139242.3	21	0,54,3941	TT,TA,AA		0.8657,0.2146,0.6758	probably-damaging	58/390	65321780	54,7936	1165	2830	3995	SO:0001583	missense	123263			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.172T>A	15.37:g.65321780A>T	ENSP00000220058:p.Phe58Ile		B7Z734	Missense_Mutation	SNP	ENST00000220058.4	37	CCDS45280.1	10	0.004578754578754579	0	0.0	2	0.0055248618784530384	0	0.0	8	0.010554089709762533	A	20.5	3.997572	0.74818	0.002146	0.008657	ENSG00000103707	ENST00000220058;ENST00000543678	T;T	0.77877	-1.13;-1.13	4.83	3.62	0.41486	Formyl transferase, N-terminal (2);	0.049940	0.85682	D	0.000000	T	0.78629	0.4313	M	0.66378	2.025	0.42564	D	0.993154	D	0.57899	0.981	D	0.63033	0.91	T	0.82299	-0.0526	10	0.87932	D	0	-19.2998	8.2755	0.31871	0.8231:0.0:0.0:0.1769	.	58	Q96DP5	FMT_HUMAN	I	58	ENSP00000220058:F58I;ENSP00000443754:F58I	ENSP00000220058:F58I	F	-	1	0	MTFMT	63108833	0.988000	0.35896	0.512000	0.27736	0.150000	0.21749	3.146000	0.50631	1.802000	0.52723	0.528000	0.53228	TTC		0.761	MTFMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418155.1	NM_139242		T	65321780	A	T	65321780	3	4	744	1	0	0	0	0	1	0	0	0	9926	43	2	5	1033	5	MTFMT	15	65321780	Missense_Mutation	SNP	A	TCGA-KO-8403-01A-11D-2310-10	23162490	65321780	37209612	40	43534											
IL4R	3566	hgsc.bcm.edu	37	16	27374117	27374117	+	Silent	SNP	C	C	T			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr16:27374117C>T	ENST00000395762.2	+	11	1703	c.1444C>T	c.(1444-1446)Ctg>Ttg	p.L482L	IL4R_ENST00000380922.3_Silent_p.L467L|IL4R_ENST00000170630.2_Silent_p.L482L|IL4R_ENST00000543915.2_Silent_p.L482L	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	482	Required for IRS1 activation and IL4- induced cell growth.				defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						TCCAGACAACCTGACTTGCAC	0.647																																																0													85	88	87					16																	27374117		2197	4300	6497	SO:0001819	synonymous_variant	3566			X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"Interleukins and interleukin receptors", "CD molecules"	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.1444C>T	16.37:g.27374117C>T			B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Silent	SNP	ENST00000395762.2	37	CCDS10629.1																																																																																				0.647	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4			T	27374117	C	T	27374117	2	4	744	1	0	0	0	0	0	0	0	1	7700	680	24	2		2	IL4R	16	27374117	Silent	SNP	C	TCGA-KO-8403-01A-11D-2310-10		27374117	62980636	41	43535											
CLEC18B	497190	mdanderson.org	37	16	74452114	74452114	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr16:74452114A>G	ENST00000339953.5	-	3	420	c.299T>C	c.(298-300)cTg>cCg	p.L100P		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	100	SCP.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GGTGCGCCACAGGCCGGACGC	0.657																																																0													17	19	18					16																	74452114		2004	4114	6118	SO:0001583	missense	497190			AY358373	CCDS32484.1	16q22.3	2010-04-27	2009-03-10	2009-03-10		ENSG00000140839		"C-type lectin domain containing"	33849	protein-coding gene	gene with protein product							Standard	NM_001011880		Approved		uc002fct.3	Q6UXF7		ENST00000339953.5:c.299T>C	16.37:g.74452114A>G	ENSP00000341051:p.Leu100Pro		B4DF90	Missense_Mutation	SNP	ENST00000339953.5	37	CCDS32484.1	.	.	.	.	.	.	.	.	.	.	N	3.509	-0.100105	0.07010	.	.	ENSG00000140839	ENST00000429489;ENST00000339953;ENST00000268492	T	0.07444	3.19	3.27	-0.271	0.12922	CAP domain (3);	0.580703	0.17352	N	0.177375	T	0.02418	0.0074	N	0.04090	-0.28	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.42120	-0.9470	10	0.14252	T	0.57	.	0.6793	0.00872	0.2475:0.184:0.3812:0.1874	.	100;100	C9JSV1;Q6UXF7	.;CL18B_HUMAN	P	100	ENSP00000341051:L100P	ENSP00000268492:L100P	L	-	2	0	CLEC18B	73009615	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.068000	0.11561	0.104000	0.17725	-1.160000	0.01791	CTG		0.657	CLEC18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434697.1	NM_001011880		G	74452114	A	G	74452114	3	3	744	1	0	0	0	0	1	0	0	0	3505	188	7	3	1112	3	CLEC18B	16	74452114	Missense_Mutation	SNP	A	TCGA-KO-8403-01A-11D-2310-10	47077997	74452114	15902639	42	43536											
TP53	7157	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	17	7577139	7577139	+	Missense_Mutation	SNP	G	G	A	rs55832599		TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr17:7577139G>A	ENST00000269305.4	-	8	988	c.799C>T	c.(799-801)Cgg>Tgg	p.R267W	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R267W|TP53_ENST00000455263.2_Missense_Mutation_p.R267W|TP53_ENST00000359597.4_Missense_Mutation_p.R267W|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_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)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	50	Substitution - Missense(26)|Deletion - In frame(9)|Whole gene deletion(8)|Unknown(3)|Deletion - Frameshift(3)|Substitution - coding silent(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)											51	45	47					17																	7577139		2203	4300	6503	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.799C>T	17.37:g.7577139G>A	ENSP00000269305:p.Arg267Trp		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	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		A	7577139	G	A	7577139	3	1	744	1	0	0	0	0	1	0	0	0	16386	1144	40	1	487	1	TP53	17	7577139	Missense_Mutation	SNP	G	TCGA-KO-8403-01A-11D-2310-10		7577139	73618071	43	43537											
TP53	7157	broad.mit.edu	37	17	7577532	7577532	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr17:7577532G>A	ENST00000269305.4	-	7	938	c.749C>T	c.(748-750)cCc>cTc	p.P250L	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.P250L|TP53_ENST00000455263.2_Missense_Mutation_p.P250L|TP53_ENST00000359597.4_Missense_Mutation_p.P250L|TP53_ENST00000413465.2_Missense_Mutation_p.P250L|TP53_ENST00000445888.2_Missense_Mutation_p.P250L	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)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	80	Substitution - Missense(56)|Deletion - In frame(10)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(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)	GRCh37	CM973401	TP53	M							154	112	126					17																	7577532		2203	4300	6503	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.749C>T	17.37:g.7577532G>A	ENSP00000269305:p.Pro250Leu		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	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.504438	0.85176	.	.	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	0.997;0.996;0.998;0.998;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;.;.	L	250;250;250;250;250;250;239;118	ENSP00000410739:P250L;ENSP00000352610:P250L;ENSP00000269305:P250L;ENSP00000398846:P250L;ENSP00000391127:P250L;ENSP00000391478:P250L;ENSP00000425104:P118L	ENSP00000269305:P250L	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		A	7577532	G	A	7577532	3	1	744	1	0	0	0	0	1	0	0	0	16386	1232	43	2	541	2	TP53	17	7577532	Missense_Mutation	SNP	G	TCGA-KO-8403-01A-11D-2310-10	393	7577532	73617678	44	43538											
ARL16	339231	mdanderson.org	37	17	79650828	79650828	+	Missense_Mutation	SNP	T	T	G	rs8066889	byFrequency	TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr17:79650828T>G	ENST00000397498.4	-	1	126	c.28A>C	c.(28-30)Agc>Cgc	p.S10R	ARL16_ENST00000573392.1_5'Flank|HGS_ENST00000329138.4_5'Flank|ARL16_ENST00000574938.1_5'Flank|ARL16_ENST00000570561.1_5'Flank|ARL16_ENST00000576135.1_5'Flank	NM_001040025.1	NP_001035114.1	Q0P5N6	ARL16_HUMAN	ADP-ribosylation factor-like 16	10			S -> R (in dbSNP:rs8066889).		small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			central_nervous_system(1)|endometrium(1)|lung(4)|skin(1)	7	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GCGCCGCGGCTCAAGGCCCGC	0.632													G|||	1243	0.248203	0.3578	0.1556	5008	,	,		12437	0.2292		0.2604	False		,,,				2504	0.1728															0								G	ARG/SER	1280,2528		237,806,861	14	17	16		28	0.8	0	17	dbSNP_116	16	1807,6371		212,1383,2494	yes	missense	ARL16	NM_001040025.1	110	449,2189,3355	GG,GT,TT		22.0959,33.6134,25.755	benign	10/198	79650828	3087,8899	1904	4089	5993	SO:0001583	missense	339231				CCDS45813.1	17q25.3	2014-05-09				ENSG00000214087		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	27902	protein-coding gene	gene with protein product						12477932	Standard	NM_001040025		Approved		uc002kbf.3	Q0P5N6		ENST00000397498.4:c.28A>C	17.37:g.79650828T>G	ENSP00000380635:p.Ser10Arg			Missense_Mutation	SNP	ENST00000397498.4	37	CCDS45813.1	573	0.2623626373626374	193	0.39227642276422764	62	0.1712707182320442	135	0.23601398601398602	183	0.24142480211081793	G	10.73	1.431804	0.25813	0.336134	0.220959	ENSG00000214087	ENST00000397498	T	0.70749	-0.51	4.35	0.805	0.18703	.	0.727362	0.09205	U	0.834153	T	0.00012	0.0000	L	0.34521	1.04	0.51012	P	9.199999999998099E-5	B	0.02656	0.0	B	0.01281	0.0	T	0.26224	-1.0109	9	0.72032	D	0.01	.	8.4458	0.32841	0.0:0.133:0.4606:0.4064	rs8066889;rs59418595;rs8066889	10	Q0P5N6	ARL16_HUMAN	R	10	ENSP00000380635:S10R	ENSP00000380635:S10R	S	-	1	0	ARL16	77261233	0.004000	0.15560	0.003000	0.11579	0.002000	0.02628	0.878000	0.28126	0.263000	0.21812	-0.121000	0.15023	AGC		0.632	ARL16-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440514.1	XM_290777		G	79650828	T	G	79650828	3	3	744	1	0	0	0	0	1	0	0	0	932	1551	54	5	585	5	ARL16	17	79650828	Missense_Mutation	SNP	T	TCGA-KO-8403-01A-11D-2310-10	72073296	79650828	1544382	45	43539											
TCEB3B	51224	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	18	44561017	44561017	+	Missense_Mutation	SNP	G	G	T			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr18:44561017G>T	ENST00000332567.4	-	1	971	c.619C>A	c.(619-621)Ctg>Atg	p.L207M	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)	207					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						CCTGGACACAGCAGAGGCCCG	0.687																																																0													25	28	27					18																	44561017		2203	4298	6501	SO:0001583	missense	51224			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.619C>A	18.37:g.44561017G>T	ENSP00000331302:p.Leu207Met		Q9P2V9	Missense_Mutation	SNP	ENST00000332567.4	37	CCDS11932.1	.	.	.	.	.	.	.	.	.	.	G	9.489	1.100122	0.20552	.	.	ENSG00000206181	ENST00000332567	T	0.07908	3.15	2.09	-2.03	0.07365	.	2.719630	0.01724	N	0.028476	T	0.17195	0.0413	L	0.47716	1.5	0.09310	N	1	D	0.67145	0.996	D	0.64877	0.93	T	0.18999	-1.0319	10	0.36615	T	0.2	6.0E-4	3.4497	0.07494	0.1594:0.0:0.286:0.5546	.	207	Q8IYF1	ELOA2_HUMAN	M	207	ENSP00000331302:L207M	ENSP00000331302:L207M	L	-	1	2	TCEB3B	42815015	0.002000	0.14202	0.000000	0.03702	0.003000	0.03518	1.247000	0.32815	-0.515000	0.06479	-0.521000	0.04368	CTG		0.687	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427		T	44561017	G	T	44561017	3	4	744	1	0	0	0	0	1	0	0	0	15687	962	34	4	1646	4	TCEB3B	18	44561017	Missense_Mutation	SNP	G	TCGA-KO-8403-01A-11D-2310-10		44561017	33516231	46	43540											
MUC16	94025	mdanderson.org	37	19	9012840	9012840	+	Silent	SNP	G	G	A	rs4992692		TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr19:9012840G>A	ENST00000397910.4	-	34	38807	c.38604C>T	c.(38602-38604)taC>taT	p.Y12868Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12870	SEA 6. {ECO:0000255|PROSITE- ProRule:PRU00188}.			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						TGTCCTCCTCGTACTGCAGGT	0.582																																																0													248	208	221					19																	9012840		2025	4191	6216	SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.38604C>T	19.37:g.9012840G>A			Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																				0.582	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	9012840	G	A	9012840	2	1	744	1	0	0	0	0	0	0	0	1	9975	1140	40	1		1	MUC16	19	9012840	Silent	SNP	G	TCGA-KO-8403-01A-11D-2310-10		9012840	50116143	47	43541											
ZNF846	162993	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	19	9869291	9869291	+	Missense_Mutation	SNP	G	G	C			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr19:9869291G>C	ENST00000397902.2	-	6	875	c.462C>G	c.(460-462)aaC>aaG	p.N154K	ZNF846_ENST00000592859.1_Missense_Mutation_p.N25K|ZNF846_ENST00000588267.1_Missense_Mutation_p.N25K|ZNF846_ENST00000586293.1_3'UTR	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	154					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						TATGAGGAAAGTTCTTTCTTA	0.368																																																0													114	108	110					19																	9869291		1817	4087	5904	SO:0001583	missense	162993			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.462C>G	19.37:g.9869291G>C	ENSP00000380999:p.Asn154Lys		A8K0H1|B3KUP1	Missense_Mutation	SNP	ENST00000397902.2	37	CCDS42496.1	.	.	.	.	.	.	.	.	.	.	.	0.854	-0.737634	0.03111	.	.	ENSG00000196605	ENST00000397902	T	0.05447	3.44	1.78	-0.534	0.11883	.	.	.	.	.	T	0.02494	0.0076	N	0.05177	-0.1	0.09310	N	1	B	0.18310	0.027	B	0.09377	0.004	T	0.47861	-0.9084	8	.	.	.	.	3.8225	0.08841	0.1567:0.0:0.6063:0.237	.	154	Q147U1	ZN846_HUMAN	K	154	ENSP00000380999:N154K	.	N	-	3	2	ZNF846	9730291	0.000000	0.05858	0.012000	0.15200	0.126000	0.20510	-3.089000	0.00610	-0.052000	0.13311	0.558000	0.71614	AAC		0.368	ZNF846-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450253.1	NM_001077624		C	9869291	G	C	9869291	3	2	744	1	0	0	0	0	1	0	0	0	18197	1020	36	4	1143	4	ZNF846	19	9869291	Missense_Mutation	SNP	G	TCGA-KO-8403-01A-11D-2310-10	856451	9869291	49259692	48	43542											
HRC	3270	broad.mit.edu;hgsc.bcm.edu	37	19	49656872	49656872	+	Silent	SNP	C	C	T			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr19:49656872C>T	ENST00000252825.4	-	1	1809	c.1623G>A	c.(1621-1623)gaG>gaA	p.E541E	HRC_ENST00000595625.1_Silent_p.E541E	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	541					cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		cctcctcctcctccttgtctt	0.612																																					Melanoma(37;75 1097 24567 25669 30645)											0													57	31	40					19																	49656872		2203	4300	6503	SO:0001819	synonymous_variant	3270				CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"histidine-rich calcium-binding protein"			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.1623G>A	19.37:g.49656872C>T			Q504Y6	Silent	SNP	ENST00000252825.4	37	CCDS12759.1																																																																																				0.612	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152		T	49656872	C	T	49656872	2	4	744	1	0	0	0	0	0	0	0	1	7354	680	24	2		2	HRC	19	49656872	Silent	SNP	C	TCGA-KO-8403-01A-11D-2310-10	39787581	49656872	9472111	49	43543											
PTOV1	53635	broad.mit.edu	37	19	50360994	50360996	+	In_Frame_Del	DEL	CAA	CAA	-			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	CAA	CAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr19:50360994_50360996delCAA	ENST00000601675.1	+	7	863_865	c.759_761delCAA	c.(757-762)gtcaac>gtc	p.N255del	AC018766.5_ENST00000599259.1_RNA|PTOV1_ENST00000221557.9_In_Frame_Del_p.N223del|PTOV1_ENST00000598325.1_3'UTR|PTOV1_ENST00000391842.1_In_Frame_Del_p.N255del|AC018766.4_ENST00000596624.1_RNA|AC018766.5_ENST00000601893.1_RNA|PTOV1_ENST00000601638.1_In_Frame_Del_p.N223del|PTOV1_ENST00000600603.1_In_Frame_Del_p.N223del|PTOV1_ENST00000599732.1_In_Frame_Del_p.N255del|AC018766.6_ENST00000601211.1_RNA|AC018766.5_ENST00000593654.1_RNA			Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	255	Interaction with FLOT1.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		TCCAGATCGTCAACAACAAGTTT	0.616																																																0										2,4262		1,0,2131						4	1			92	2,8252		0,2,4125	no	coding	PTOV1	NM_017432.3		1,2,6256	A1A1,A1R,RR		0.0242,0.0469,0.032				4,12514				SO:0001651	inframe_deletion	53635			AF238381	CCDS12782.1	19q13.33	2014-08-28	2008-09-12		ENSG00000104960	ENSG00000104960			9632	protein-coding gene	gene with protein product		610195				12598323, 15713644	Standard	XM_005258998		Approved		uc002pqf.1	Q86YD1	OTTHUMG00000183162	ENST00000601675.1:c.759_761delCAA	19.37:g.50361000_50361002delCAA	ENSP00000472816:p.Asn255del		Q6UXX7|Q96BU3|Q9HBN4|Q9NYL1	In_Frame_Del	DEL	ENST00000601675.1	37	CCDS12782.1																																																																																				0.616	PTOV1-007	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465347.1	NM_017432		-	50360996	CAA	-	50360994	7	5	744	1	0	1	0	1	0	0	0	0	12775	813	29	0	785	0	PTOV1	19	50360994	In_Frame_Del	DEL	CAA	TCGA-KO-8403-01A-11D-2310-10	704122	50360994	8767989	50	43544											
SIGLEC10	89790	mdanderson.org	37	19	51919235	51919235	+	Missense_Mutation	SNP	T	T	C	rs201089294	byFrequency	TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr19:51919235T>C	ENST00000339313.5	-	5	1057	c.941A>G	c.(940-942)aAg>aGg	p.K314R	SIGLEC10_ENST00000439889.2_Missense_Mutation_p.K256R|SIGLEC10_ENST00000353836.5_Missense_Mutation_p.K314R|CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.K314R|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.K256R|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.K231R|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000525998.1_Intron|SIGLEC10_ENST00000442846.3_Intron|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.K266R|CTD-2616J11.3_ENST00000532473.1_RNA			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	314	Ig-like C2-type 2.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		ATCCCCAGCCTTCACCCCGGG	0.672													t|||	19	0.00379393	0.0015	0.0058	5008	,	,		16797	0.0		0.0089	False		,,,				2504	0.0041															0													39	44	42					19																	51919235		2203	4300	6503	SO:0001583	missense	89790			AF310233	CCDS12832.1, CCDS54301.1, CCDS54302.1, CCDS54303.1, CCDS54304.1, CCDS54305.1	19q13.3	2013-01-29			ENSG00000142512	ENSG00000142512		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15620	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 10 Ig-like lectin 7", "siglec-like gene 2"	606091				11284738	Standard	NM_033130		Approved	SIGLEC-10, SLG2, PRO940, MGC126774	uc002pwo.3	Q96LC7	OTTHUMG00000165521	ENST00000339313.5:c.941A>G	19.37:g.51919235T>C	ENSP00000345243:p.Lys314Arg		A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Missense_Mutation	SNP	ENST00000339313.5	37	CCDS12832.1	.	.	.	.	.	.	.	.	.	.	.	9.301	1.052988	0.19907	.	.	ENSG00000142512	ENST00000353836;ENST00000432469;ENST00000356298;ENST00000441969;ENST00000439889;ENST00000436984;ENST00000339313;ENST00000529627	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	4.37	-1.6	0.08426	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.681650	0.03351	N	0.196151	T	0.58337	0.2115	L	0.37507	1.11	0.09310	N	1	B;P;P;B;B;B	0.36125	0.213;0.538;0.482;0.178;0.218;0.395	B;P;B;B;B;B	0.44921	0.346;0.464;0.333;0.234;0.25;0.208	T	0.39418	-0.9615	10	0.27082	T	0.32	.	0.8962	0.01264	0.1846:0.1837:0.3756:0.2561	.	266;314;314;256;256;314	C9JM10;B7ZL04;Q96LC7-2;Q96LC7-6;Q96LC7-3;Q96LC7	.;.;.;.;.;SIG10_HUMAN	R	314;231;314;256;256;266;314;128	ENSP00000342389:K314R;ENSP00000396742:K231R;ENSP00000348646:K314R;ENSP00000408387:K256R;ENSP00000389132:K256R;ENSP00000414324:K266R;ENSP00000345243:K314R;ENSP00000435281:K128R	ENSP00000345243:K314R	K	-	2	0	SIGLEC10	56611047	0.000000	0.05858	0.000000	0.03702	0.080000	0.17528	-0.007000	0.12810	-0.440000	0.07211	0.260000	0.18958	AAG		0.672	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384620.2	NM_033130		C	51919235	T	C	51919235	3	2	744	1	0	0	0	0	1	0	0	0	14312	1609	56	3	1180	3	SIGLEC10	19	51919235	Missense_Mutation	SNP	T	TCGA-KO-8403-01A-11D-2310-10	1558241	51919235	7209748	51	43545	426	2									
SIGLEC10	89790	mdanderson.org	37	19	51919243	51919243	+	Silent	SNP	G	G	A	rs199660336	byFrequency	TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr19:51919243G>A	ENST00000339313.5	-	5	1049	c.933C>T	c.(931-933)ccC>ccT	p.P311P	SIGLEC10_ENST00000439889.2_Silent_p.P253P|SIGLEC10_ENST00000353836.5_Silent_p.P311P|CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000356298.5_Silent_p.P311P|SIGLEC10_ENST00000441969.3_Silent_p.P253P|SIGLEC10_ENST00000432469.2_Silent_p.P228P|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000525998.1_Intron|SIGLEC10_ENST00000442846.3_Intron|SIGLEC10_ENST00000436984.2_Silent_p.P263P|CTD-2616J11.3_ENST00000532473.1_RNA			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	311	Ig-like C2-type 2.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		CCTTCACCCCGGGCAGCTCCA	0.667																																																0													34	39	37					19																	51919243		2203	4300	6503	SO:0001819	synonymous_variant	89790			AF310233	CCDS12832.1, CCDS54301.1, CCDS54302.1, CCDS54303.1, CCDS54304.1, CCDS54305.1	19q13.3	2013-01-29			ENSG00000142512	ENSG00000142512		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15620	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 10 Ig-like lectin 7", "siglec-like gene 2"	606091				11284738	Standard	NM_033130		Approved	SIGLEC-10, SLG2, PRO940, MGC126774	uc002pwo.3	Q96LC7	OTTHUMG00000165521	ENST00000339313.5:c.933C>T	19.37:g.51919243G>A			A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Silent	SNP	ENST00000339313.5	37	CCDS12832.1																																																																																				0.667	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384620.2	NM_033130		A	51919243	G	A	51919243	2	1	744	1	0	0	0	0	0	0	0	1	14312	1103	39	1		1	SIGLEC10	19	51919243	Silent	SNP	G	TCGA-KO-8403-01A-11D-2310-10	8	51919243	7209740	52	43546	426	2									
ZNF468	90333	ucsc.edu	37	19	53352380	53352380	+	Silent	SNP	C	C	T	rs568961044	byFrequency	TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr19:53352380C>T	ENST00000595646.1	-	3	222	c.102G>A	c.(100-102)agG>agA	p.R34R	ZNF468_ENST00000243639.4_Silent_p.R34R|ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000396409.4_5'UTR|ZNF468_ENST00000390651.4_5'UTR			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	34	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)		GCATCACGTCCCTGTATAAAG	0.473													-|||	6	0.00119808	0.0008	0.0	5008	,	,		18410	0.001		0.004	False		,,,				2504	0.0															0													147	149	148					19																	53352380		2203	4300	6503	SO:0001819	synonymous_variant	90333			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.102G>A	19.37:g.53352380C>T			A8MV20|Q5CZB8|Q5VIY4|Q68DI7	Silent	SNP	ENST00000595646.1	37	CCDS33094.1																																																																																				0.473	ZNF468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463098.1	NM_001008801		T	53352380	C	T	53352380	2	4	744	1	0	0	0	0	0	0	0	1	17933	622	22	2		2	ZNF468	19	53352380	Silent	SNP	C	TCGA-KO-8403-01A-11D-2310-10	1433137	53352380	5776603	53	43547											
ZNF419	79744	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	19	58004570	58004570	+	Missense_Mutation	SNP	A	A	C			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr19:58004570A>C	ENST00000221735.7	+	5	831	c.645A>C	c.(643-645)aaA>aaC	p.K215N	AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000426954.2_Missense_Mutation_p.K203N|ZNF419_ENST00000354197.4_Missense_Mutation_p.K203N|ZNF419_ENST00000347466.6_Missense_Mutation_p.K183N|ZNF419_ENST00000415379.2_Missense_Mutation_p.K169N|ZNF419_ENST00000424930.2_Missense_Mutation_p.K216N|ZNF419_ENST00000442920.2_Missense_Mutation_p.K202N			Q96HQ0	ZN419_HUMAN	zinc finger protein 419	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)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		TTGGTCAGAAATATTTACTTG	0.413																																																0													64	67	66					19																	58004570		2201	4300	6501	SO:0001583	missense	79744			AK026886	CCDS42637.1, CCDS46211.1, CCDS54325.1, CCDS54326.1, CCDS54327.1, CCDS54328.1	19q13.43	2013-01-08	2006-12-15	2006-12-15	ENSG00000105136	ENSG00000105136		"Zinc fingers, C2H2-type", "-"	20648	protein-coding gene	gene with protein product			"zinc finger protein 419A"	ZNF419A			Standard	NM_001098492		Approved		uc010ety.1	Q96HQ0	OTTHUMG00000037073	ENST00000221735.7:c.645A>C	19.37:g.58004570A>C	ENSP00000221735:p.Lys215Asn		B4DXU7|B4E348|B7ZA41|E9PCP4|E9PED0|E9PET3|E9PFX9|Q9H5P0	Missense_Mutation	SNP	ENST00000221735.7	37	CCDS54326.1	.	.	.	.	.	.	.	.	.	.	A	7.539	0.660263	0.14645	.	.	ENSG00000105136	ENST00000284020;ENST00000424930;ENST00000426954;ENST00000354197;ENST00000442920;ENST00000517598;ENST00000347466;ENST00000415379;ENST00000221735	T;T;T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59;0.59;0.59	2.36	0.144	0.14824	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27967	0.0689	N	0.20328	0.56	0.09310	N	1	B;B;B;B;B;B;B	0.15930	0.001;0.006;0.015;0.006;0.002;0.012;0.002	B;B;B;B;B;B;B	0.15484	0.003;0.009;0.013;0.009;0.002;0.013;0.002	T	0.24977	-1.0145	9	0.06757	T	0.87	.	4.4449	0.11593	0.5962:0.1799:0.2239:0.0	.	169;169;202;203;216;183;215	E9PFX9;B4DXU7;E9PCP4;E9PET3;E9PED0;Q96HQ0-2;Q96HQ0	.;.;.;.;.;.;ZN419_HUMAN	N	218;216;203;203;202;216;183;169;215	ENSP00000388864:K216N;ENSP00000390916:K203N;ENSP00000346136:K203N;ENSP00000414709:K202N;ENSP00000299860:K183N;ENSP00000392129:K169N;ENSP00000221735:K215N	ENSP00000221735:K215N	K	+	3	2	ZNF419	62696382	0.000000	0.05858	0.000000	0.03702	0.182000	0.23217	-4.071000	0.00301	-0.233000	0.09797	-1.203000	0.01651	AAA		0.413	ZNF419-006	KNOWN	NAGNAG_splice_site|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378506.1	NM_024691		C	58004570	A	C	58004570	3	2	744	1	0	0	0	0	1	0	0	0	17901	98	4	5	666	5	ZNF419	19	58004570	Missense_Mutation	SNP	A	TCGA-KO-8403-01A-11D-2310-10	4652190	58004570	1124413	54	43548											
ZNF497	162968	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	58868487	58868487	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr19:58868487C>T	ENST00000311044.3	-	3	703	c.515G>A	c.(514-516)cGc>cAc	p.R172H	A1BG-AS1_ENST00000593374.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|CTD-2619J13.9_ENST00000599952.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|ZNF497_ENST00000425453.3_Missense_Mutation_p.R172H|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000595302.1_RNA	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	172					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|lung(3)|skin(2)	7		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		CGAGTGCGCGCGGAAGGCCTT	0.677																																																0													31	26	28					19																	58868487		2203	4299	6502	SO:0001583	missense	162968			AK126727	CCDS12977.1	19q13.43	2013-01-08			ENSG00000174586	ENSG00000174586		"Zinc fingers, C2H2-type"	23714	protein-coding gene	gene with protein product							Standard	NM_198458		Approved	FLJ44773	uc002qsi.2	Q6ZNH5		ENST00000311044.3:c.515G>A	19.37:g.58868487C>T	ENSP00000311183:p.Arg172His		Q05AG8|Q0VF48|Q6ZTD2|Q9UIA8	Missense_Mutation	SNP	ENST00000311044.3	37	CCDS12977.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.600356	0.46423	.	.	ENSG00000174586	ENST00000311044;ENST00000425453;ENST00000391697	T;T	0.36157	1.27;1.27	0.813	0.813	0.18749	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29524	0.0736	L	0.58925	1.835	0.23120	N	0.998262	B	0.30482	0.281	B	0.30179	0.112	T	0.31943	-0.9925	9	0.52906	T	0.07	.	3.0719	0.06234	0.0:0.6841:0.0:0.3159	.	172	Q6ZNH5	ZN497_HUMAN	H	172;172;17	ENSP00000311183:R172H;ENSP00000402815:R172H	ENSP00000311183:R172H	R	-	2	0	ZNF497	63560299	0.000000	0.05858	0.066000	0.19879	0.379000	0.30106	-3.047000	0.00630	0.715000	0.32103	0.205000	0.17691	CGC		0.677	ZNF497-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466942.2	NM_198458		T	58868487	C	T	58868487	3	4	744	1	0	0	0	0	1	0	0	0	17951	768	27	1	985	1	ZNF497	19	58868487	Missense_Mutation	SNP	C	TCGA-KO-8403-01A-11D-2310-10	863917	58868487	260496	55	43549											
SIRPB1	10326	broad.mit.edu	37	20	1558987	1558987	+	Missense_Mutation	SNP	G	G	A	rs368470461		TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr20:1558987G>A	ENST00000381605.4	-	2	494	c.430C>T	c.(430-432)Cgc>Tgc	p.R144C	RP4-576H24.4_ENST00000564763.1_Missense_Mutation_p.R144C|SIRPB1_ENST00000262929.5_Missense_Mutation_p.R143C|SIRPB1_ENST00000381603.3_Missense_Mutation_p.R144C	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	144					cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						TACTCACCGCGCACAGACAGC	0.552																																																0								G	CYS/ARG,CYS/ARG	0,4392		0,0,2196	122	108	113		430,430	-0.3	0	20		113	1,8469		0,1,4234	no	missense,missense	SIRPB1	NM_001083910.2,NM_006065.3	180,180	0,1,6430	AA,AG,GG		0.0118,0.0,0.0078	possibly-damaging,possibly-damaging	144/182,144/399	1558987	1,12861	2196	4235	6431	SO:0001583	missense	10326			Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.430C>T	20.37:g.1558987G>A	ENSP00000371018:p.Arg144Cys		A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	ENST00000381605.4	37	CCDS13019.1	.	.	.	.	.	.	.	.	.	.	.	11.45	1.642351	0.29246	0.0	1.18E-4	ENSG00000101307	ENST00000381605;ENST00000381603;ENST00000262929	T;T;T	0.02323	4.34;4.34;4.34	2.36	-0.31	0.12765	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.021760	0.07769	N	0.951360	T	0.06872	0.0175	L	0.49350	1.555	0.09310	N	1	D;D	0.71674	0.998;0.991	P;P	0.56960	0.624;0.81	T	0.40117	-0.9580	10	0.35671	T	0.21	.	6.6051	0.22721	0.0:0.0:0.5263:0.4737	.	144;144	O00241;O00241-2	SIRB1_HUMAN;.	C	144;144;143	ENSP00000371018:R144C;ENSP00000371016:R144C;ENSP00000262929:R143C	ENSP00000262929:R143C	R	-	1	0	SIRPB1	1506987	0.079000	0.21365	0.031000	0.17742	0.058000	0.15608	-0.025000	0.12413	-0.218000	0.10018	-0.521000	0.04368	CGC		0.552	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		A	1558987	G	A	1558987	3	1	744	1	0	0	0	0	1	0	0	0	14339	1087	38	1	782	1	SIRPB1	20	1558987	Missense_Mutation	SNP	G	TCGA-KO-8403-01A-11D-2310-10		1558987	61466533	56	43550											
SYCP2	10388	bcgsc.ca	37	20	58461850	58461850	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr20:58461850C>T	ENST00000357552.3	-	25	2629	c.2404G>A	c.(2404-2406)Gaa>Aaa	p.E802K	SYCP2_ENST00000371001.2_Missense_Mutation_p.E802K			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	802					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)			ATCAAGGATTCTGCTACATTG	0.279																																																0													101	94	96					20																	58461850		2200	4292	6492	SO:0001583	missense	10388			Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.2404G>A	20.37:g.58461850C>T	ENSP00000350162:p.Glu802Lys		A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000357552.3	37	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.431596	0.25813	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000446834	T;T;T	0.19394	2.42;2.42;2.15	5.53	4.56	0.56223	.	0.467879	0.21706	N	0.070351	T	0.25680	0.0625	L	0.52364	1.645	0.28960	N	0.889902	P	0.44139	0.827	B	0.44044	0.439	T	0.09228	-1.0684	10	0.72032	D	0.01	-13.1563	13.4061	0.60913	0.0:0.8418:0.1581:0.0	.	802	Q9BX26	SYCP2_HUMAN	K	802	ENSP00000360040:E802K;ENSP00000350162:E802K;ENSP00000402456:E802K	ENSP00000350162:E802K	E	-	1	0	SYCP2	57895245	1.000000	0.71417	1.000000	0.80357	0.173000	0.22820	1.924000	0.40065	1.292000	0.44672	0.591000	0.81541	GAA		0.279	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		T	58461850	C	T	58461850	3	4	744	1	0	0	0	0	1	0	0	0	15437	922	32	2	2272	2	SYCP2	20	58461850	Missense_Mutation	SNP	C	TCGA-KO-8403-01A-11D-2310-10	56902863	58461850	4563670	57	43551											
YDJC	150223	hgsc.bcm.edu	37	22	21982830	21982830	+	Silent	SNP	C	C	T			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr22:21982830C>T	ENST00000292778.6	-	5	898	c.849G>A	c.(847-849)cgG>cgA	p.R283R	YDJC_ENST00000398873.3_3'UTR	NM_001017964.1	NP_001017964.1	A8MPS7	YDJC_HUMAN	YdjC homolog (bacterial)	283					carbohydrate metabolic process (GO:0005975)		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)					Colorectal(54;0.105)					CAAGCTGGGCCCGCAGCGTGG	0.692																																																0													35	35	35					22																	21982830		2203	4300	6503	SO:0001819	synonymous_variant	150223				CCDS33613.1	22q11.21	2008-02-26			ENSG00000161179	ENSG00000161179			27158	protein-coding gene	gene with protein product						18177738	Standard	XM_005261347		Approved		uc002zvb.2	A8MPS7	OTTHUMG00000150822	ENST00000292778.6:c.849G>A	22.37:g.21982830C>T			Q2YDT4|Q4V9R7	Silent	SNP	ENST00000292778.6	37	CCDS33613.1																																																																																				0.692	YDJC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320213.1			T	21982830	C	T	21982830	2	4	744	1	0	0	0	0	0	0	0	1	17476	610	22	2		2	YDJC	22	21982830	Silent	SNP	C	TCGA-KO-8403-01A-11D-2310-10		21982830	29321736	58	43552											
C22orf28	51493	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	22	32797733	32797733	+	Splice_Site	SNP	C	C	A			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr22:32797733C>A	ENST00000216038.5	-	5	596		c.e5+1		RTCB_ENST00000476619.1_Splice_Site|RTCB_ENST00000451746.2_Intron	NM_014306.4	NP_055121.1			RNA 2',3'-cyclic phosphate and 5'-OH ligase																		TGTGCTCTTACTTGGCATTCA	0.473																																																0													196	146	163					22																	32797733		2203	4300	6503	SO:0001630	splice_region_variant	51493			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.497+1G>T	22.37:g.32797733C>A				Splice_Site	SNP	ENST00000216038.5	37	CCDS13905.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.676466	0.88445	.	.	ENSG00000100220	ENST00000216038	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0344	0.97551	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C22orf28	31127733	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.763000	0.85283	2.803000	0.96430	0.650000	0.86243	.		0.473	RTCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075188.3	NM_014306	Intron	A	32797733	C	A	32797733	5	1	744	1	0	0	0	0	0	0	1	0	2142	579	20	4	1051	4	C22orf28	22	32797733	Splice_Site	SNP	C	TCGA-KO-8403-01A-11D-2310-10	10814903	32797733	18506833	59	43553											
TRIOBP	11078	mdanderson.org	37	22	38120429	38120429	+	Silent	SNP	T	T	C	rs6000868	byFrequency	TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr22:38120429T>C	ENST00000406386.3	+	7	2121	c.1866T>C	c.(1864-1866)gaT>gaC	p.D622D		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	622					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)					CCACACGAGATAACCCCAGAA	0.587																																																0													124	138	134					22																	38120429		1941	4148	6089	SO:0001819	synonymous_variant	11078			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1866T>C	22.37:g.38120429T>C			B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Silent	SNP	ENST00000406386.3	37	CCDS43015.1																																																																																				0.587	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			C	38120429	T	C	38120429	2	2	744	1	0	0	0	0	0	0	0	1	16558	1403	49	3		3	TRIOBP	22	38120429	Silent	SNP	T	TCGA-KO-8403-01A-11D-2310-10	5322696	38120429	13184137	60	43554											
SCNN1D	6339	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	1	1223338	1223338	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr1:1223338G>A	ENST00000338555.2	+	9	2235	c.1091G>A	c.(1090-1092)gGg>gAg	p.G364E	SCNN1D_ENST00000379116.5_Missense_Mutation_p.G528E|SCNN1D_ENST00000400928.3_Missense_Mutation_p.G364E|SCNN1D_ENST00000325425.8_Missense_Mutation_p.G430E			P51172	SCNND_HUMAN	sodium channel, non-voltage-gated 1, delta subunit	364					ion transmembrane transport (GO:0034220)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ligand-gated sodium channel activity (GO:0015280)			lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;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;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-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;0.199)	Amiloride(DB00594)|Triamterene(DB00384)	CACCGGCTCGGGAGCCCCTAC	0.706																																																0													6	8	8					1																	1223338		2002	3976	5978	SO:0001583	missense	6339			U38254	CCDS44037.1, CCDS44037.2	1p36.3-p36.2	2012-02-28	2012-02-28		ENSG00000162572	ENSG00000162572		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10601	protein-coding gene	gene with protein product		601328	"sodium channel, nonvoltage-gated 1, delta", "sodium channel, non-voltage-gated 1, delta"			8661065	Standard	NM_001130413		Approved	ENaCdelta, dNaCh	uc001adt.1	P51172	OTTHUMG00000002081	ENST00000338555.2:c.1091G>A	1.37:g.1223338G>A	ENSP00000339504:p.Gly364Glu		A9Z1X6|B1PS44|Q08AQ3|Q09HT0|Q5T7L3|Q8NA24	Missense_Mutation	SNP	ENST00000338555.2	37		.	.	.	.	.	.	.	.	.	.	G	14.55	2.568255	0.45798	.	.	ENSG00000162572	ENST00000379110;ENST00000379116;ENST00000338555;ENST00000325425;ENST00000400928	T;T;T;T	0.61627	0.09;0.09;0.09;0.09	3.48	3.48	0.39840	.	0.000000	0.56097	U	0.000028	T	0.73385	0.3580	M	0.72118	2.19	0.29554	N	0.85113	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.996;0.976	T	0.71676	-0.4521	10	0.59425	D	0.04	.	14.3265	0.66523	0.0:0.0:1.0:0.0	.	186;364;528	B1AMF2;P51172;A6NNF7	.;SCNND_HUMAN;.	E	395;528;364;430;364	ENSP00000368411:G528E;ENSP00000339504:G364E;ENSP00000321594:G430E;ENSP00000383717:G364E	ENSP00000321594:G430E	G	+	2	0	SCNN1D	1213201	0.004000	0.15560	0.112000	0.21494	0.079000	0.17450	0.739000	0.26173	1.676000	0.50930	0.313000	0.20887	GGG		0.706	SCNN1D-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000005802.2	NM_002978		A	1223338	G	A	1223338	3	1	745	1	0	0	0	0	1	0	0	0	13935	1232	43	2	1323	2	SCNN1D	1	1223338	Missense_Mutation	SNP	G	TCGA-KO-8404-01A-11D-2310-10		1223338	248027283	1	43555											
ATAD3C	219293	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	1	1389871	1389871	+	Silent	SNP	C	C	T			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr1:1389871C>T	ENST00000378785.2	+	4	1364	c.369C>T	c.(367-369)caC>caT	p.H123H		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	123							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)		CGCTGCGGCACCCCATCCAGG	0.667																																																0													20	33	29					1																	1389871		692	1591	2283	SO:0001819	synonymous_variant	219293			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.369C>T	1.37:g.1389871C>T			Q8N1Z5	Silent	SNP	ENST00000378785.2	37	CCDS44039.1																																																																																				0.667	ATAD3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001279.3	NM_001039211		T	1389871	C	T	1389871	2	4	745	1	0	0	0	0	0	0	0	1	1075	506	18	2		2	ATAD3C	1	1389871	Silent	SNP	C	TCGA-KO-8404-01A-11D-2310-10	166533	1389871	247860750	2	43556											
KIAA0562	9731	ucsc.edu	37	1	3753225	3753225	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr1:3753225A>G	ENST00000378230.3	-	10	1475	c.1151T>C	c.(1150-1152)cTt>cCt	p.L384P	CEP104_ENST00000460038.1_Intron	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	384						centriole (GO:0005814)	glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596)			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						AATAGCTGGAAGAGGCCGCTC	0.562																																																0													72	67	69					1																	3753225		2203	4300	6503	SO:0001583	missense	9731			AB011134	CCDS30571.1	1p36.32	2014-02-20	2011-05-06	2011-05-06	ENSG00000116198	ENSG00000116198			24866	protein-coding gene	gene with protein product	"glycine, glutamate, thienylcyclohexylpiperidine binding protein"		"KIAA0562"	KIAA0562		7488117, 21399614	Standard	NM_014704		Approved	GlyBP, RP1-286D6.4	uc001aky.2	O60308	OTTHUMG00000003507	ENST00000378230.3:c.1151T>C	1.37:g.3753225A>G	ENSP00000367476:p.Leu384Pro		Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14	Missense_Mutation	SNP	ENST00000378230.3	37	CCDS30571.1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.648087	0.87958	.	.	ENSG00000116198	ENST00000378230;ENST00000443466	T;T	0.59502	1.22;0.26	5.68	5.68	0.88126	.	0.000000	0.64402	D	0.000001	T	0.76793	0.4037	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.78198	-0.2297	10	0.45353	T	0.12	.	15.1098	0.72346	1.0:0.0:0.0:0.0	.	384;384	O60308-3;O60308	.;CE104_HUMAN	P	384;78	ENSP00000367476:L384P;ENSP00000411927:L78P	ENSP00000367476:L384P	L	-	2	0	CEP104	3743085	1.000000	0.71417	0.078000	0.20375	0.323000	0.28346	8.353000	0.90077	2.154000	0.67381	0.528000	0.53228	CTT		0.562	CEP104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009747.3	NM_014704		G	3753225	A	G	3753225	3	3	745	1	0	0	0	0	1	0	0	0	8186	72	3	3	1678	3	KIAA0562	1	3753225	Missense_Mutation	SNP	A	TCGA-KO-8404-01A-11D-2310-10	2363354	3753225	245497396	3	43557											
DFFA	1676	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	1	10527276	10527276	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr1:10527276T>C	ENST00000377038.3	-	3	479	c.412A>G	c.(412-414)Atc>Gtc	p.I138V	DFFA_ENST00000377036.2_Missense_Mutation_p.I138V	NM_004401.2	NP_004392.1	O00273	DFFA_HUMAN	DNA fragmentation factor, 45kDa, alpha polypeptide	138					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)		AGGAGGATGATGCTGGACAGA	0.532																																																0													175	164	168					1																	10527276		2203	4300	6503	SO:0001583	missense	1676			AF087573	CCDS118.1, CCDS119.1	1p36.3-p36.2	2008-07-18	2002-08-29		ENSG00000160049	ENSG00000160049			2772	protein-coding gene	gene with protein product	"DNA fragmentation factor, 45 kD, alpha subunit"	601882	"DNA fragmentation factor, 45 kD, alpha polypeptide"			9605855, 9108473	Standard	NM_004401		Approved	DFF-45, DFF45, ICAD, DFF1	uc001arj.3	O00273	OTTHUMG00000001909	ENST00000377038.3:c.412A>G	1.37:g.10527276T>C	ENSP00000366237:p.Ile138Val		Q5T6G5|Q5T6G6|Q96I97|Q9Y6C6	Missense_Mutation	SNP	ENST00000377038.3	37	CCDS118.1	.	.	.	.	.	.	.	.	.	.	T	10.02	1.235073	0.22626	.	.	ENSG00000160049	ENST00000377038;ENST00000377036	.	.	.	5.68	4.54	0.55810	DNA fragmentation factor 45kDa, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.66366	0.2782	M	0.70275	2.135	0.49213	D	0.99976	P;D	0.53745	0.828;0.962	B;P	0.53450	0.333;0.726	T	0.65092	-0.6252	9	0.33940	T	0.23	-14.4087	12.6113	0.56552	0.0:0.0:0.1389:0.8611	.	138;138	O00273-2;O00273	.;DFFA_HUMAN	V	138	.	ENSP00000366235:I138V	I	-	1	0	DFFA	10449863	1.000000	0.71417	1.000000	0.80357	0.119000	0.20118	3.677000	0.54619	0.967000	0.38186	-0.321000	0.08615	ATC		0.532	DFFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005418.1	NM_004401		C	10527276	T	C	10527276	3	2	745	1	0	0	0	0	1	0	0	0	4454	1464	51	3	623	3	DFFA	1	10527276	Missense_Mutation	SNP	T	TCGA-KO-8404-01A-11D-2310-10	6774051	10527276	238723345	4	43558											
PPT1	5538	broad.mit.edu	37	1	40562824	40562825	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr1:40562824_40562825insG	ENST00000433473.3	-	1	550_551	c.86_87insC	c.(85-87)ccgfs	p.P29fs	PPT1_ENST00000449045.2_Frame_Shift_Ins_p.P29fs	NM_000310.3	NP_000301.1	P50897	PPT1_HUMAN	palmitoyl-protein thioesterase 1	29					adult locomotory behavior (GO:0008344)|associative learning (GO:0008306)|brain development (GO:0007420)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cofactor metabolic process (GO:0051186)|cofactor transport (GO:0051181)|grooming behavior (GO:0007625)|lipid catabolic process (GO:0016042)|lysosomal lumen acidification (GO:0007042)|membrane raft organization (GO:0031579)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|neuron development (GO:0048666)|neurotransmitter secretion (GO:0007269)|pinocytosis (GO:0006907)|positive regulation of pinocytosis (GO:0048549)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein catabolic process (GO:0030163)|protein depalmitoylation (GO:0002084)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|regulation of phospholipase A2 activity (GO:0032429)|regulation of synapse structure and activity (GO:0050803)|sphingolipid catabolic process (GO:0030149)|visual perception (GO:0007601)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)	palmitoyl-(protein) hydrolase activity (GO:0008474)|palmitoyl-CoA hydrolase activity (GO:0016290)			endometrium(5)|large_intestine(1)|lung(3)|ovary(1)|stomach(1)	11	Lung NSC(20;3.43e-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;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GCGGCGCCGGCGGGTCCAGATG	0.609																																																0																																										SO:0001589	frameshift_variant	5538			U44772	CCDS447.1, CCDS44119.1	1p32	2014-09-17	2008-07-31		ENSG00000131238	ENSG00000131238	3.1.2.22		9325	protein-coding gene	gene with protein product	"ceroid-lipofuscinosis, neuronal 1, infantile"	600722		PPT		7637805, 8325646	Standard	NM_000310		Approved	CLN1, INCL	uc001cfb.2	P50897	OTTHUMG00000004495	ENST00000433473.3:c.87dupC	1.37:g.40562827_40562827dupG	ENSP00000394863:p.Pro29fs		B4DY24|Q6FGQ4	Frame_Shift_Ins	INS	ENST00000433473.3	37	CCDS447.1																																																																																				0.609	PPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000013126.2	NM_000310		G	40562825	-	G	40562824	7	5	745	1	0	1	1	0	0	0	0	0	12416	755	27	0	869	0	PPT1	1	40562824	Frame_Shift_Ins	INS	-	TCGA-KO-8404-01A-11D-2310-10	30035548	40562824	208687797	5	43559											
SGIP1	84251	mdanderson.org;bcgsc.ca	37	1	67154849	67154849	+	Missense_Mutation	SNP	G	G	A	rs542858072	byFrequency	TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr1:67154849G>A	ENST00000371037.4	+	16	1411	c.1334G>A	c.(1333-1335)cGa>cAa	p.R445Q	SGIP1_ENST00000371036.3_Missense_Mutation_p.R245Q|SGIP1_ENST00000237247.6_Missense_Mutation_p.R476Q|SGIP1_ENST00000371039.1_Missense_Mutation_p.R246Q|SGIP1_ENST00000371035.3_Missense_Mutation_p.R235Q	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	445	Pro-rich.				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						TCCCCTGCTCGACCAGCCACT	0.542																																																0													212	215	214					1																	67154849		2203	4300	6503	SO:0001583	missense	84251			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.1334G>A	1.37:g.67154849G>A	ENSP00000360076:p.Arg445Gln		A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	ENST00000371037.4	37	CCDS30744.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.727703	0.89390	.	.	ENSG00000118473	ENST00000237247;ENST00000371039;ENST00000371035;ENST00000371038;ENST00000407289;ENST00000371036;ENST00000371037	T;T;T;T;T	0.03272	3.99;3.99;3.99;3.99;3.99	6.17	6.17	0.99709	.	0.125931	0.56097	D	0.000029	T	0.11707	0.0285	M	0.70275	2.135	0.54753	D	0.999989	D;D;D;D	0.76494	0.999;0.994;0.994;0.999	D;D;D;D	0.72625	0.978;0.921;0.921;0.978	T	0.05937	-1.0855	10	0.30078	T	0.28	-10.234	19.6509	0.95805	0.0:0.0:1.0:0.0	.	475;45;235;445	A6NEV3;B3KR01;B7Z5H8;Q9BQI5	.;.;.;SGIP1_HUMAN	Q	476;246;235;475;448;245;445	ENSP00000237247:R476Q;ENSP00000360078:R246Q;ENSP00000360074:R235Q;ENSP00000360075:R245Q;ENSP00000360076:R445Q	ENSP00000237247:R476Q	R	+	2	0	SGIP1	66927437	1.000000	0.71417	1.000000	0.80357	0.353000	0.29299	8.648000	0.91062	2.941000	0.99782	0.655000	0.94253	CGA		0.542	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		A	67154849	G	A	67154849	3	1	745	1	0	0	0	0	1	0	0	0	14212	1058	37	1	1396	1	SGIP1	1	67154849	Missense_Mutation	SNP	G	TCGA-KO-8404-01A-11D-2310-10	26592025	67154849	182095772	6	43560											
ST6GALNAC5	81849	broad.mit.edu	37	1	77334277	77334279	+	In_Frame_Del	DEL	GCA	GCA	-	rs113832855|rs373434974		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	GCA	GCA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr1:77334277_77334279delGCA	ENST00000477717.1	+	2	346_348	c.111_113delGCA	c.(109-114)ccgcag>ccg	p.Q49del	ST6GALNAC5_ENST00000496845.1_3'UTR	NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	49	Poly-Gln.				glycosphingolipid biosynthetic process (GO:0006688)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						AGCGGCCCCCgcagcagcagcag	0.7																																																0										633,280,2837		87,67,392,25,163,1141						-1.1	1		dbSNP_132	16	606,89,6499		39,5,523,5,74,2951	no	codingComplex	ST6GALNAC5	NM_030965.1		126,72,915,30,237,4092	A1A1,A1A2,A1R,A2A2,A2R,RR		9.6608,24.3467,14.693				1239,369,9336				SO:0001651	inframe_deletion	81849				CCDS673.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000117069	ENSG00000117069		"Sialyltransferases"	19342	protein-coding gene	gene with protein product		610134	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E"	SIAT7E		10521438, 10601645	Standard	NM_030965		Approved	MGC3184, ST6GalNAcV	uc001dhi.3	Q9BVH7	OTTHUMG00000009687	ENST00000477717.1:c.111_113delGCA	1.37:g.77334286_77334288delGCA	ENSP00000417583:p.Gln49del		B1AK82	In_Frame_Del	DEL	ENST00000477717.1	37	CCDS673.1																																																																																				0.7	ST6GALNAC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026692.2	NM_030965		-	77334279	GCA	-	77334277	7	5	745	1	0	1	0	1	0	0	0	0	15232	1074	38	0	117	0	ST6GALNAC5	1	77334277	In_Frame_Del	DEL	GCA	TCGA-KO-8404-01A-11D-2310-10	10179428	77334277	171916344	7	43561											
ARHGAP29	9411	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	94639723	94639723	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr1:94639723C>T	ENST00000260526.6	-	23	3670	c.3488G>A	c.(3487-3489)tGg>tAg	p.W1163*	ARHGAP29_ENST00000482481.1_5'Flank	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	1163					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)		AAATGTTGTCCAATGTTGAGG	0.532																																																0													92	80	84					1																	94639723		2203	4300	6503	SO:0001587	stop_gained	9411				CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"Rho GTPase activating proteins"	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.3488G>A	1.37:g.94639723C>T	ENSP00000260526:p.Trp1163*		O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Nonsense_Mutation	SNP	ENST00000260526.6	37	CCDS748.1	.	.	.	.	.	.	.	.	.	.	C	43	10.147914	0.99346	.	.	ENSG00000137962	ENST00000260526	.	.	.	5.49	5.49	0.81192	.	0.000000	0.36002	N	0.002860	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.1193	19.3644	0.94456	0.0:1.0:0.0:0.0	.	.	.	.	X	1163	.	ENSP00000260526:W1163X	W	-	2	0	ARHGAP29	94412311	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.573000	0.74009	2.596000	0.87737	0.591000	0.81541	TGG		0.532	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	NM_004815		T	94639723	C	T	94639723	4	4	745	1	0	0	0	0	0	1	0	0	878	595	21	2	301	2	ARHGAP29	1	94639723	Nonsense_Mutation	SNP	C	TCGA-KO-8404-01A-11D-2310-10	17305446	94639723	154610898	8	43562											
IGSF3	3321	mdanderson.org	37	1	117158748	117158748	+	Silent	SNP	A	A	G	rs199696016		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr1:117158748A>G	ENST00000369486.3	-	3	1140	c.375T>C	c.(373-375)acT>acC	p.T125T	IGSF3_ENST00000318837.6_Silent_p.T125T|IGSF3_ENST00000369483.1_Silent_p.T125T	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	125	Ig-like C2-type 1.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.T125T(2)		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)		ATTGCTTATCAGTGCTGGGTG	0.498																																																2	Substitution - coding silent(2)	endometrium(2)											62	56	58					1																	117158748		2203	4300	6503	SO:0001819	synonymous_variant	3321			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.375T>C	1.37:g.117158748A>G			A6NJZ6|A6NMC7	Silent	SNP	ENST00000369486.3	37	CCDS30813.1																																																																																				0.498	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		G	117158748	A	G	117158748	2	3	745	1	0	0	0	0	0	0	0	1	7603	175	7	3		3	IGSF3	1	117158748	Silent	SNP	A	TCGA-KO-8404-01A-11D-2310-10	22519025	117158748	132091873	9	43563											
NBPF10	100132406	mdanderson.org	37	1	145302775	145302775	+	Missense_Mutation	SNP	T	T	G	rs376014420		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr1:145302775T>G	ENST00000369339.3	+	5	653	c.400T>G	c.(400-402)Tat>Gat	p.Y134D	NBPF10_ENST00000369338.1_Missense_Mutation_p.Y134D|NBPF10_ENST00000342960.5_Missense_Mutation_p.Y405D|RP11-458D21.5_ENST00000468030.1_3'UTR			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	405						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)		CCTCACTCCGTATGAGCCGGA	0.577																																																0																																										SO:0001583	missense	100132406			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.400T>G	1.37:g.145302775T>G	ENSP00000358345:p.Tyr134Asp		Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369339.3	37		.	.	.	.	.	.	.	.	.	.	.	0	-2.664813	0.00107	.	.	ENSG00000163386	ENST00000448873;ENST00000369338;ENST00000369334;ENST00000342960	T;T	0.46063	0.88;4.33	0.712	-0.91	0.10511	.	.	.	.	.	T	0.03390	0.0098	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33189	-0.9878	7	0.02654	T	1	.	.	.	.	.	134	A8MQ30	.	D	330;134;134;405	ENSP00000358344:Y134D;ENSP00000345684:Y405D	ENSP00000345684:Y405D	Y	+	1	0	NBPF10	144014132	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.464000	0.06688	-1.158000	0.02811	-1.371000	0.01190	TAT		0.577	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		G	145302775	T	G	145302775	3	3	745	1	0	0	0	0	1	0	0	0	10195	1638	57	5	1243	5	NBPF10	1	145302775	Missense_Mutation	SNP	T	TCGA-KO-8404-01A-11D-2310-10	28144027	145302775	103947846	10	43564											
APH1A	51107	broad.mit.edu;mdanderson.org	37	1	150240152	150240152	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr1:150240152C>T	ENST00000369109.3	-	3	510	c.322G>A	c.(322-324)Gga>Aga	p.G108R	C1orf54_ENST00000369102.1_5'Flank|APH1A_ENST00000461320.1_5'UTR|APH1A_ENST00000414276.2_Intron|APH1A_ENST00000360244.4_Missense_Mutation_p.G108R	NM_001077628.2	NP_001071096.1	Q96BI3	APH1A_HUMAN	APH1A gamma secretase subunit	108					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|metanephros development (GO:0001656)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	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)			GGTGATCTTCCGTCCTCACTC	0.592																																																0													43	48	46					1																	150240152		1978	4159	6137	SO:0001583	missense	51107			AF151835	CCDS41390.1, CCDS41391.1, CCDS58025.1	1q21.2	2013-05-01	2013-05-01		ENSG00000117362	ENSG00000117362			29509	protein-coding gene	gene with protein product		607629	"anterior pharynx defective 1 homolog A (C. elegans)"			10810093, 12110170	Standard	NM_001077628		Approved	APH-1A, CGI-78	uc001ety.2	Q96BI3	OTTHUMG00000012545	ENST00000369109.3:c.322G>A	1.37:g.150240152C>T	ENSP00000358105:p.Gly108Arg		B4DQK0|Q5TB22|Q5TB23|Q969R6|Q9BVG0|Q9Y386	Missense_Mutation	SNP	ENST00000369109.3	37	CCDS41390.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.109966	0.56398	.	.	ENSG00000117362	ENST00000369109;ENST00000360244;ENST00000236017	T;T;T	0.42513	0.97;0.97;0.97	4.98	4.98	0.66077	.	0.066696	0.64402	D	0.000012	T	0.43634	0.1256	L	0.59436	1.845	0.80722	D	1	D;P;P;D	0.71674	0.998;0.873;0.896;0.994	P;B;P;P	0.59056	0.851;0.386;0.52;0.826	T	0.15636	-1.0430	10	0.18276	T	0.48	-2.8055	15.7897	0.78345	0.0:1.0:0.0:0.0	.	51;108;108;108	B4DUG7;Q96BI3-2;Q5TB22;Q96BI3	.;.;.;APH1A_HUMAN	R	108;108;51	ENSP00000358105:G108R;ENSP00000353380:G108R;ENSP00000236017:G51R	ENSP00000236017:G51R	G	-	1	0	APH1A	148506776	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.320000	0.79064	2.583000	0.87209	0.491000	0.48974	GGA		0.592	APH1A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000035048.1	NM_016022		T	150240152	C	T	150240152	3	4	745	1	0	0	0	0	1	0	0	0	771	661	23	1	506	1	APH1A	1	150240152	Missense_Mutation	SNP	C	TCGA-KO-8404-01A-11D-2310-10	4937377	150240152	99010469	11	43565											
HRNR	388697	mdanderson.org	37	1	152192163	152192163	+	Missense_Mutation	SNP	G	G	T	rs61814943		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr1:152192163G>T	ENST00000368801.2	-	3	2017	c.1942C>A	c.(1942-1944)Cgc>Agc	p.R648S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	648					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)			TGGCCATAGCGAGAAGACTGA	0.577																																																0													210	213	212					1																	152192163		2203	4300	6503	SO:0001583	missense	388697			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.1942C>A	1.37:g.152192163G>T	ENSP00000357791:p.Arg648Ser		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	8.020	0.759338	0.15846	.	.	ENSG00000197915	ENST00000368801	T	0.03717	3.83	3.86	-7.73	0.01245	.	.	.	.	.	T	0.00271	0.0008	N	0.01352	-0.895	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.48163	-0.9059	9	0.02654	T	1	.	7.1181	0.25429	0.0:0.4064:0.3856:0.2081	rs61814943	648	Q86YZ3	HORN_HUMAN	S	648	ENSP00000357791:R648S	ENSP00000357791:R648S	R	-	1	0	HRNR	150458787	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.911000	0.00336	-1.297000	0.02351	-0.866000	0.03004	CGC		0.577	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		T	152192163	G	T	152192163	3	4	745	1	0	0	0	0	1	0	0	0	7361	1058	37	4	6614	4	HRNR	1	152192163	Missense_Mutation	SNP	G	TCGA-KO-8404-01A-11D-2310-10	1952011	152192163	97058458	12	43566											
DNM3	26052	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	1	172037991	172037991	+	Silent	SNP	G	G	A			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr1:172037991G>A	ENST00000355305.5	+	11	1525	c.1368G>A	c.(1366-1368)acG>acA	p.T456T	DNM3_ENST00000520906.1_Silent_p.T456T|DNM3_ENST00000367731.1_Silent_p.T456T|DNM3_ENST00000358155.4_Silent_p.T456T|DNM3_ENST00000367733.2_Silent_p.T456T			Q9UQ16	DYN3_HUMAN	dynamin 3	456					endocytosis (GO:0006897)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|synapse assembly (GO:0007416)	dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GCGAGGAAACGGAAAGGATTG	0.468																																																0													47	43	44					1																	172037991		1883	4101	5984	SO:0001819	synonymous_variant	26052			AL136712	CCDS44276.1, CCDS60356.1	1q24.1	2013-01-10			ENSG00000197959	ENSG00000197959		"Pleckstrin homology (PH) domain containing"	29125	protein-coding gene	gene with protein product	"Dyna III"	611445				10048485	Standard	NM_015569		Approved	KIAA0820	uc001gie.4	Q9UQ16	OTTHUMG00000034913	ENST00000355305.5:c.1368G>A	1.37:g.172037991G>A			A9Z1Y1|O14982|O95555|Q1MTM8|Q5W129|Q6P2G1|Q9H0P3|Q9H548|Q9NQ68|Q9NQN6	Silent	SNP	ENST00000355305.5	37																																																																																					0.468	DNM3-003	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000084531.1	NM_015569		A	172037991	G	A	172037991	2	1	745	1	0	0	0	0	0	0	0	1	4675	1103	39	1		1	DNM3	1	172037991	Silent	SNP	G	TCGA-KO-8404-01A-11D-2310-10	19845828	172037991	77212630	13	43567											
C1orf25	81627	broad.mit.edu	37	1	185119607	185119608	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr1:185119607_185119608insA	ENST00000367506.5	-	3	631_632	c.363_364insT	c.(361-366)tgtccafs	p.P122fs	TRMT1L_ENST00000367504.3_5'UTR	NM_001202423.1|NM_030934.4	NP_001189352.1|NP_112196.3	Q7Z2T5	TRM1L_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)-like	122					adult locomotory behavior (GO:0008344)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						GGGCACAATGGACAAGCCTGTC	0.376																																																0																																										SO:0001589	frameshift_variant	81627			AF288399	CCDS1366.1	1q25.2	2012-06-29	2012-06-29	2011-01-24	ENSG00000121486	ENSG00000121486			16782	protein-coding gene	gene with protein product	"TRM1-like"	611673	"chromosome 1 open reading frame 25", "TRM1 tRNA methyltransferase 1-like"	C1orf25		11318611, 17198746	Standard	NM_030934		Approved		uc001grf.4	Q7Z2T5	OTTHUMG00000035389	ENST00000367506.5:c.364dupT	1.37:g.185119608_185119608dupA	ENSP00000356476:p.Pro122fs		Q5TEN0|Q6ZMX0|Q8IWH5|Q8NC68|Q9BZQ1	Frame_Shift_Ins	INS	ENST00000367506.5	37	CCDS1366.1																																																																																				0.376	TRMT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085787.1	NM_030934		A	185119608	-	A	185119607	7	5	745	1	0	1	1	0	0	0	0	0	2036	1174	41	0	1889	0	C1orf25	1	185119607	Frame_Shift_Ins	INS	-	TCGA-KO-8404-01A-11D-2310-10	13081616	185119607	64131014	14	43568											
ABCG8	64241	broad.mit.edu	37	2	44102406	44102407	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr2:44102406_44102407insG	ENST00000272286.2	+	11	1700_1701	c.1610_1611insG	c.(1609-1614)ctggtgfs	p.V538fs		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	538	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)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|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)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	CTGGTGTGGCTGGTGGTCTTCT	0.609																																																0																																										SO:0001589	frameshift_variant	64241			AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"ATP binding cassette transporters / subfamily G"	13887	protein-coding gene	gene with protein product	"gallbladder disease 4", "sterolin 2"	605460	"ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.1612dupG	2.37:g.44102408_44102408dupG	ENSP00000272286:p.Val538fs		Q53QN8	Frame_Shift_Ins	INS	ENST00000272286.2	37	CCDS1815.1																																																																																				0.609	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250671.1	NM_022437		G	44102407	-	G	44102406	7	5	745	1	0	1	1	0	0	0	0	0	72	1580	55	0	1652	0	ABCG8	2	44102406	Frame_Shift_Ins	INS	-	TCGA-KO-8404-01A-11D-2310-10		44102406	199096967	15	43569											
LRPPRC	10128	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	44139675	44139675	+	Missense_Mutation	SNP	A	A	T			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr2:44139675A>T	ENST00000260665.7	-	30	3228	c.3171T>A	c.(3169-3171)aaT>aaA	p.N1057K		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	1057					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GCTCTTTTGCATTCAGGAAAA	0.323																																																0													92	87	89					2																	44139675		2201	4297	6498	SO:0001583	missense	10128			M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.3171T>A	2.37:g.44139675A>T	ENSP00000260665:p.Asn1057Lys		A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Missense_Mutation	SNP	ENST00000260665.7	37	CCDS33189.1	.	.	.	.	.	.	.	.	.	.	A	0.088	-1.172635	0.01646	.	.	ENSG00000138095	ENST00000465633;ENST00000260665	T	0.51325	0.71	5.78	3.09	0.35607	.	0.569792	0.20057	N	0.100168	T	0.11153	0.0272	N	0.00197	-1.87	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.04495	-1.0947	10	0.15952	T	0.53	-6.7877	5.055	0.14527	0.2744:0.1053:0.0:0.6202	.	957;1057	F5H4J6;P42704	.;LPPRC_HUMAN	K	957;1057	ENSP00000260665:N1057K	ENSP00000260665:N1057K	N	-	3	2	LRPPRC	43993179	0.984000	0.35163	0.998000	0.56505	0.366000	0.29705	0.007000	0.13174	1.012000	0.39366	-0.275000	0.10095	AAT		0.323	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327823.1	NM_133259		T	44139675	A	T	44139675	3	4	745	1	0	0	0	0	1	0	0	0	8967	214	8	5	1049	5	LRPPRC	2	44139675	Missense_Mutation	SNP	A	TCGA-KO-8404-01A-11D-2310-10	37269	44139675	199059698	16	43570											
ANKRD36B	0	broad.mit.edu	37	2	98129746	98129746	+	IGR	DEL	G	G	-			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr2:98129746delG								AC159540.1 (38697 upstream) : ANKRD36B (34281 downstream)																							TTGCTCTTCTGTTATTCTTAA	0.333																																																0													62	71	68					2																	98129746		1811	4072	5883	SO:0001628	intergenic_variant	57730																															2.37:g.98129746delG				Frame_Shift_Del	DEL		37																																																																																				0	0.333									-	98129746	G	-	98129746	6	5	745	0	1	1	0	1	0	0	0	0	666	1377	48	0		0	ANKRD36B	2	98129746	IGR	DEL	G	TCGA-KO-8404-01A-11D-2310-10	53990071	98129746	145069627	17	43571											
IL1RL1	9173	broad.mit.edu	37	2	102959759	102959760	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr2:102959759_102959760insG	ENST00000233954.1	+	8	1125_1126	c.854_855insG	c.(853-858)atggttfs	p.V286fs	IL1RL1_ENST00000311734.2_Frame_Shift_Ins_p.V286fs|IL1RL1_ENST00000409584.1_Frame_Shift_Ins_p.V272fs|IL1RL1_ENST00000404917.2_Frame_Shift_Ins_p.V169fs	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						TGTCTAGACATGGTTTTAAGAA	0.455																																																0																																										SO:0001589	frameshift_variant	9173			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.856dupG	2.37:g.102959761_102959761dupG	ENSP00000233954:p.Val286fs		A8K6B3|B4E0I3|Q53TU7|Q8NEJ3|Q9ULV7|Q9UQ44	Frame_Shift_Ins	INS	ENST00000233954.1	37	CCDS2057.1																																																																																				0.455	IL1RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253296.1	NM_016232		G	102959760	-	G	102959759	7	5	745	1	0	1	1	0	0	0	0	0	7665	1464	51	0	880	0	IL1RL1	2	102959759	Frame_Shift_Ins	INS	-	TCGA-KO-8404-01A-11D-2310-10	4830013	102959759	140239614	18	43572											
RGPD4	285190	broad.mit.edu	37	2	108487353	108487354	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr2:108487353_108487354insA	ENST00000408999.3	+	20	2970_2971	c.2893_2894insA	c.(2893-2895)caafs	p.Q965fs	RGPD4_ENST00000354986.4_Frame_Shift_Ins_p.Q965fs	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	965					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GATTTTTGGCCAAACAAGTAGC	0.401																																																0																																										SO:0001589	frameshift_variant	285190			BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"Tetratricopeptide (TTC) repeat domain containing"	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.2896dupA	2.37:g.108487356_108487356dupA	ENSP00000386810:p.Gln965fs		B9A029	Frame_Shift_Ins	INS	ENST00000408999.3	37	CCDS46381.1																																																																																				0.401	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2	XM_496581		A	108487354	-	A	108487353	7	5	745	1	0	1	1	0	0	0	0	0	13294	595	21	0	2971	0	RGPD4	2	108487353	Frame_Shift_Ins	INS	-	TCGA-KO-8404-01A-11D-2310-10	5527594	108487353	134712020	19	43573											
AOX1	316	broad.mit.edu;mdanderson.org;bcgsc.ca	37	2	201462175	201462175	+	Missense_Mutation	SNP	G	G	A	rs200659056		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr2:201462175G>A	ENST00000374700.2	+	4	497	c.256G>A	c.(256-258)Gtc>Atc	p.V86I		NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	86	2Fe-2S ferredoxin-type. {ECO:0000255|PROSITE-ProRule:PRU00465}.				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)	TGGTGCTGCCGTCACCACAGT	0.458																																																0													142	120	128					2																	201462175		2203	4300	6503	SO:0001583	missense	316			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.256G>A	2.37:g.201462175G>A	ENSP00000363832:p.Val86Ile		O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	37	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.512980	0.44660	.	.	ENSG00000138356	ENST00000374700;ENST00000454629	T;T	0.56941	1.71;0.43	5.29	3.5	0.40072	Beta-grasp fold, ferredoxin-type (1);Ferredoxin (2);	0.186311	0.46145	N	0.000308	T	0.39517	0.1081	L	0.33293	1	0.58432	D	0.999999	P	0.36990	0.577	B	0.34242	0.178	T	0.26608	-1.0098	10	0.49607	T	0.09	-43.0883	11.3803	0.49752	0.1469:0.0:0.8531:0.0	.	86	Q06278	ADO_HUMAN	I	86;61	ENSP00000363832:V86I;ENSP00000392485:V61I	ENSP00000363832:V86I	V	+	1	0	AOX1	201170420	1.000000	0.71417	0.724000	0.30704	0.801000	0.45260	3.200000	0.51051	0.801000	0.34066	0.655000	0.94253	GTC		0.458	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		A	201462175	G	A	201462175	3	1	745	1	0	0	0	0	1	0	0	0	729	1145	40	1	270	1	AOX1	2	201462175	Missense_Mutation	SNP	G	TCGA-KO-8404-01A-11D-2310-10	92974822	201462175	41737198	20	43574											
STRADB	55437	mdanderson.org	37	2	202344886	202344886	+	Silent	SNP	C	C	T	rs146098224		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr2:202344886C>T	ENST00000194530.3	+	12	1610	c.1245C>T	c.(1243-1245)taC>taT	p.Y415Y	STRADB_ENST00000392249.2_3'UTR	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	415					activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|cell morphogenesis (GO:0000902)|insulin receptor signaling pathway (GO:0008286)|JNK cascade (GO:0007254)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						AAGACTCATACTGGGAATTCT	0.393																																																0													134	136	135					2																	202344886		2203	4300	6503	SO:0001819	synonymous_variant	55437			AB038950	CCDS2348.1, CCDS56161.1	2q33.1	2010-09-30	2008-09-15	2008-09-15	ENSG00000082146	ENSG00000082146			13205	protein-coding gene	gene with protein product		607333	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 2"	ALS2CR2		11161814, 14511394	Standard	NM_018571		Approved	CALS-21, PAPK, ILPIPA, ILPIP	uc002uyd.4	Q9C0K7	OTTHUMG00000132831	ENST00000194530.3:c.1245C>T	2.37:g.202344886C>T			Q5BKY7|Q9P1L0	Silent	SNP	ENST00000194530.3	37	CCDS2348.1																																																																																				0.393	STRADB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256297.1	NM_018571		T	202344886	C	T	202344886	2	4	745	1	0	0	0	0	0	0	0	1	15330	576	20	2		2	STRADB	2	202344886	Silent	SNP	C	TCGA-KO-8404-01A-11D-2310-10	882711	202344886	40854487	21	43575											
PRKAG3	53632	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	2	219695480	219695480	+	Missense_Mutation	SNP	C	C	A			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr2:219695480C>A	ENST00000529249.1	-	3	533	c.218G>T	c.(217-219)gGt>gTt	p.G73V	PRKAG3_ENST00000392098.3_Missense_Mutation_p.G73V|PRKAG3_ENST00000439262.2_Missense_Mutation_p.G48V|PRKAG3_ENST00000545803.1_Splice_Site			Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	73					cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|protein phosphorylation (GO:0006468)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)	AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|protein kinase binding (GO:0019901)			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Acetylsalicylic acid(DB00945)	TTCCCCCTGACCTGGTGGCTC	0.617																																																0													137	114	122					2																	219695480		2203	4300	6503	SO:0001583	missense	53632			AF214519	CCDS2424.1	2q35	2012-09-20			ENSG00000115592	ENSG00000115592			9387	protein-coding gene	gene with protein product		604976				10818001	Standard	NM_017431		Approved		uc002vjb.1	Q9UGI9	OTTHUMG00000133078	ENST00000529249.1:c.218G>T	2.37:g.219695480C>A	ENSP00000436068:p.Gly73Val		Q4QQG8|Q4V779|Q9NRL1	Missense_Mutation	SNP	ENST00000529249.1	37	CCDS2424.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.727|1.727	-0.495088|-0.495088	0.04322|0.04322	.|.	.|.	ENSG00000115592|ENSG00000115592	ENST00000430489|ENST00000439262;ENST00000529249;ENST00000392098	.|D;D;T	.|0.82167	.|-1.57;-1.58;0.22	4.78|4.78	-0.676|-0.676	0.11361|0.11361	.|.	.|0.335926	.|0.25222	.|N	.|0.032231	.|T	.|0.72630	.|0.3484	L|L	0.32530|0.32530	0.975|0.975	0.19300|0.19300	N|N	0.99998|0.99998	.|P;P	.|0.51351	.|0.944;0.908	.|P;B	.|0.49140	.|0.601;0.397	.|T	.|0.65001	.|-0.6274	.|10	.|0.72032	.|D	.|0.01	.|-4.8259	0.6602|0.6602	0.00841|0.00841	0.1784:0.358:0.1546:0.3091|0.1784:0.358:0.1546:0.3091	.|.	.|48;73	.|Q9UGI9-2;Q9UGI9	.|.;AAKG3_HUMAN	.|V	-1|48;73;73	.|ENSP00000397133:G48V;ENSP00000436068:G73V;ENSP00000375947:G73V	.|ENSP00000233944:G73V	.|G	-|-	.|2	.|0	PRKAG3|PRKAG3	219403724|219403724	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.165000|0.165000	0.22458|0.22458	-0.625000|-0.625000	0.05534|0.05534	0.116000|0.116000	0.18110|0.18110	0.655000|0.655000	0.94253|0.94253	.|GGT		0.617	PRKAG3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385992.1			A	219695480	C	A	219695480	3	1	745	1	0	0	0	0	1	0	0	0	12507	507	18	4	1295	4	PRKAG3	2	219695480	Missense_Mutation	SNP	C	TCGA-KO-8404-01A-11D-2310-10	17350594	219695480	23503893	22	43576											
ABHD14A	25864	broad.mit.edu	37	3	52014930	52014930	+	Missense_Mutation	SNP	A	A	C			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr3:52014930A>C	ENST00000273596.3	+	5	780	c.712A>C	c.(712-714)Aac>Cac	p.N238H	ACY1_ENST00000458031.2_Intron|ABHD14B_ENST00000483233.1_Intron|ACY1_ENST00000404366.2_5'Flank|ABHD14A-ACY1_ENST00000463937.1_Intron|ACY1_ENST00000476351.1_5'Flank|ABHD14A_ENST00000491470.1_Silent_p.P120P|ACY1_ENST00000476854.1_5'Flank|ACY1_ENST00000494103.1_5'Flank	NM_015407.4	NP_056222.2	Q9BUJ0	ABHEA_HUMAN	abhydrolase domain containing 14A	238						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CCACCTGCCCAACCACTCTGT	0.592																																																0													113	91	98					3																	52014930		2203	4300	6503	SO:0001583	missense	25864			AY358201	CCDS2843.1	3p21.1	2011-02-14			ENSG00000248487	ENSG00000248487		"Abhydrolase domain containing"	24538	protein-coding gene	gene with protein product							Standard	NM_015407		Approved	DKFZP564O243, DORZ1	uc003dco.3	Q9BUJ0	OTTHUMG00000157818	ENST00000273596.3:c.712A>C	3.37:g.52014930A>C	ENSP00000273596:p.Asn238His		Q6UXU8|Q9Y3T7	Missense_Mutation	SNP	ENST00000273596.3	37	CCDS2843.1	.	.	.	.	.	.	.	.	.	.	A	19.80	3.893898	0.72639	.	.	ENSG00000248487	ENST00000273596;ENST00000360889;ENST00000452452	T	0.23348	1.91	5.41	5.41	0.78517	.	0.057047	0.64402	D	0.000003	T	0.29620	0.0739	L	0.58354	1.805	0.80722	D	1	P	0.37708	0.606	B	0.38880	0.284	T	0.07635	-1.0762	10	0.59425	D	0.04	-24.6514	13.6867	0.62520	1.0:0.0:0.0:0.0	.	238	Q9BUJ0	ABHEA_HUMAN	H	238;196;172	ENSP00000273596:N238H	ENSP00000273596:N238H	N	+	1	0	ABHD14A	51989970	0.354000	0.24912	1.000000	0.80357	0.965000	0.64279	0.818000	0.27295	2.056000	0.61249	0.379000	0.24179	AAC		0.592	ABHD14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349689.1	NM_015407		C	52014930	A	C	52014930	3	2	745	1	0	0	0	0	1	0	0	0	79	130	5	5	730	5	ABHD14A	3	52014930	Missense_Mutation	SNP	A	TCGA-KO-8404-01A-11D-2310-10		52014930	146007500	23	43577											
SLC15A2	6565	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	3	121659851	121659851	+	Silent	SNP	C	C	A			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr3:121659851C>A	ENST00000489711.1	+	22	2575	c.2187C>A	c.(2185-2187)ctC>ctA	p.L729L	SLC15A2_ENST00000295605.2_Silent_p.L698L	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	729					drug transport (GO:0015893)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|dipeptide transporter activity (GO:0042936)|high-affinity oligopeptide transporter activity (GO:0015334)|peptide:proton symporter activity (GO:0015333)			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Fosinopril(DB00492)|Glyburide(DB01016)|Moexipril(DB00691)|Nateglinide(DB00731)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Tranexamic Acid(DB00302)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	AGACAAAACTCTGATGACTCC	0.443																																																0													80	77	78					3																	121659851		2203	4300	6503	SO:0001819	synonymous_variant	6565			BC044572	CCDS3007.1, CCDS54631.1	3q21.1	2013-07-18	2013-07-18		ENSG00000163406	ENSG00000163406		"Solute carriers"	10921	protein-coding gene	gene with protein product		602339	"solute carrier family 15 (H+/peptide transporter), member 2"			7756356	Standard	NM_021082		Approved	PEPT2	uc003eep.2	Q16348	OTTHUMG00000159423	ENST00000489711.1:c.2187C>A	3.37:g.121659851C>A			A8K1A5|B4E2A7	Silent	SNP	ENST00000489711.1	37	CCDS3007.1																																																																																				0.443	SLC15A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355239.1	NM_021082		A	121659851	C	A	121659851	2	1	745	1	0	0	0	0	0	0	0	1	14405	900	32	4		4	SLC15A2	3	121659851	Silent	SNP	C	TCGA-KO-8404-01A-11D-2310-10	69644921	121659851	76362579	24	43578											
FAM162A	26355	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	3	122123174	122123174	+	Missense_Mutation	SNP	G	G	A	rs149572114		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr3:122123174G>A	ENST00000477892.1	+	3	311	c.227G>A	c.(226-228)cGc>cAc	p.R76H	FAM162A_ENST00000469967.1_Missense_Mutation_p.R76H|FAM162A_ENST00000232125.5_Missense_Mutation_p.R66H	NM_014367.3	NP_055182.3	Q96A26	F162A_HUMAN	family with sequence similarity 162, member A	76	Required for proapoptotic activity.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to hypoxia (GO:0071456)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|transformed cell apoptotic process (GO:0006927)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6						TGGTCAGGTCGCTTCAAAAAG	0.398													G|||	1	0.000199681	0.0	0.0	5008	,	,		18620	0.0		0.001	False		,,,				2504	0.0															0													89	86	87					3																	122123174		1900	4119	6019	SO:0001583	missense	26355			AF191020	CCDS43139.1	3q21.1	2008-06-05	2008-06-05	2008-06-05	ENSG00000114023	ENSG00000114023			17865	protein-coding gene	gene with protein product		608017	"chromosome 3 open reading frame 28"	C3orf28		11085516	Standard	NM_014367		Approved	E2IG5	uc003eez.3	Q96A26	OTTHUMG00000159494	ENST00000477892.1:c.227G>A	3.37:g.122123174G>A	ENSP00000419088:p.Arg76His		Q9NRN6|Q9UJX8	Missense_Mutation	SNP	ENST00000477892.1	37	CCDS43139.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	15.95	2.985201	0.53934	.	.	ENSG00000114023	ENST00000232125;ENST00000477892;ENST00000469967	T;T;T	0.39056	1.1;1.1;1.1	5.65	3.86	0.44501	.	0.347429	0.31601	N	0.007366	T	0.41305	0.1153	M	0.79805	2.47	0.29219	N	0.874058	P;P	0.49635	0.926;0.908	B;B	0.39935	0.314;0.146	T	0.51679	-0.8675	10	0.54805	T	0.06	.	7.2289	0.26030	0.0839:0.0:0.7487:0.1674	.	76;76	E9PH05;Q96A26	.;F162A_HUMAN	H	66;76;76	ENSP00000232125:R66H;ENSP00000419088:R76H;ENSP00000419491:R76H	ENSP00000232125:R66H	R	+	2	0	FAM162A	123605864	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	4.337000	0.59310	0.937000	0.37394	-0.140000	0.14226	CGC		0.398	FAM162A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355766.1	NM_014367		A	122123174	G	A	122123174	3	1	745	1	0	0	0	0	1	0	0	0	5476	1087	38	1	237	1	FAM162A	3	122123174	Missense_Mutation	SNP	G	TCGA-KO-8404-01A-11D-2310-10	463323	122123174	75899256	25	43579											
HEG1	57493	mdanderson.org	37	3	124732419	124732419	+	Silent	SNP	A	A	G	rs202026679|rs540539937|rs376430192		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr3:124732419A>G	ENST00000311127.4	-	6	2071	c.2004T>C	c.(2002-2004)tcT>tcC	p.S668S	HEG1_ENST00000477536.1_5'UTR	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	668	Ser-rich.				cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						aagaagaagaagaggaggagg	0.488																																																0													51	56	55					3																	124732419		2137	4243	6380	SO:0001819	synonymous_variant	57493			AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"heart of glass"	614182	"HEG homolog 1 (zebrafish)"			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.2004T>C	3.37:g.124732419A>G			Q6NX66|Q8NC40|Q9BSV0	Silent	SNP	ENST00000311127.4	37	CCDS46898.1																																																																																				0.488	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	XM_087386		G	124732419	A	G	124732419	2	3	745	1	0	0	0	0	0	0	0	1	7046	59	3	3		3	HEG1	3	124732419	Silent	SNP	A	TCGA-KO-8404-01A-11D-2310-10	2609245	124732419	73290011	26	43580											
KLF15	28999	broad.mit.edu	37	3	126070866	126070867	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr3:126070866_126070867insG	ENST00000296233.3	-	2	1129_1130	c.899_900insC	c.(898-900)cctfs	p.P300fs	KLF15_ENST00000509675.1_5'Flank	NM_014079.3	NP_054798.1	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	300					cardiac muscle hypertrophy in response to stress (GO:0014898)|cellular response to peptide (GO:1901653)|glial cell differentiation (GO:0010001)|glomerular visceral epithelial cell differentiation (GO:0072112)|glucose transport (GO:0015758)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|lung(7)|ovary(2)|skin(2)	12				GBM - Glioblastoma multiforme(114;0.147)		GGAGACCGGCAGGGCCAGGCCC	0.584																																																0																																										SO:0001589	frameshift_variant	28999			AB029254	CCDS3036.1	3q21.3	2013-01-08			ENSG00000163884	ENSG00000163884		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	14536	protein-coding gene	gene with protein product	"kidney-enriched Kruppel-like factor"	606465				10982849	Standard	NM_014079		Approved	KKLF	uc011bkk.1	Q9UIH9	OTTHUMG00000162689	ENST00000296233.3:c.900dupC	3.37:g.126070869_126070869dupG	ENSP00000296233:p.Pro300fs			Frame_Shift_Ins	INS	ENST00000296233.3	37	CCDS3036.1																																																																																				0.584	KLF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370096.1	NM_014079		G	126070867	-	G	126070866	7	5	745	1	0	1	1	0	0	0	0	0	8345	175	7	0	358	0	KLF15	3	126070866	Frame_Shift_Ins	INS	-	TCGA-KO-8404-01A-11D-2310-10	1338447	126070866	71951564	27	43581											
COL6A5	256076	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	3	130098678	130098678	+	Missense_Mutation	SNP	G	G	C	rs532783006	byFrequency	TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr3:130098678G>C	ENST00000432398.2	+	4	1579	c.1085G>C	c.(1084-1086)cGa>cCa	p.R362P	COL6A5_ENST00000265379.6_Missense_Mutation_p.R362P	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	362	Nonhelical region.|VWFA 2. {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						CTGAACCTTCGACTGGAGGAT	0.483																																																0													140	115	122					3																	130098678		692	1591	2283	SO:0001583	missense	256076			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"Collagens"	26674	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 4"	611916	"collagen, type XXIX, alpha 1"	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.1085G>C	3.37:g.130098678G>C	ENSP00000390895:p.Arg362Pro		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	ENST00000432398.2	37		.	.	.	.	.	.	.	.	.	.	G	7.854	0.724578	0.15439	.	.	ENSG00000172752	ENST00000432398;ENST00000265379	T;T	0.81247	-1.47;-1.47	5.34	3.33	0.38152	.	.	.	.	.	D	0.91168	0.7218	M	0.90650	3.135	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	D	0.83855	0.0265	9	0.72032	D	0.01	.	14.8051	0.69948	0.0:0.0:0.7277:0.2723	.	362	A8TX70-2	.	P	362	ENSP00000390895:R362P;ENSP00000265379:R362P	ENSP00000265379:R362P	R	+	2	0	COL6A5	131581368	0.988000	0.35896	0.063000	0.19743	0.048000	0.14542	4.397000	0.59690	1.242000	0.43836	0.455000	0.32223	CGA		0.483	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264		C	130098678	G	C	130098678	3	2	745	1	0	0	0	0	1	0	0	0	3704	1058	37	4	1095	4	COL6A5	3	130098678	Missense_Mutation	SNP	G	TCGA-KO-8404-01A-11D-2310-10	4027812	130098678	67923752	28	43582											
WWTR1	25937	broad.mit.edu;bcgsc.ca	37	3	149245708	149245708	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr3:149245708G>A	ENST00000465804.1	-	6	1076	c.820C>T	c.(820-822)Cca>Tca	p.P274S	WWTR1_ENST00000467467.1_Missense_Mutation_p.P274S|WWTR1_ENST00000360632.3_Missense_Mutation_p.P274S|RNU6-1098P_ENST00000516772.1_RNA	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	274					cilium morphogenesis (GO:0060271)|gene expression (GO:0010467)|glomerulus development (GO:0032835)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of SMAD protein import into nucleus (GO:0060390)|regulation of transcription, DNA-templated (GO:0006355)|stem cell division (GO:0017145)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GCCTGAACTGGGGCAAGAGTC	0.498			T	CAMTA1	epitheliod hemangioendothelioma																																		Dom	yes		3	3q23-q24	607392	WW domain containing transcription regulator 1		M	0													128	130	130					3																	149245708		2203	4300	6503	SO:0001583	missense	25937			AK022036	CCDS3144.1	3q23-q24	2004-12-03			ENSG00000018408	ENSG00000018408			24042	protein-coding gene	gene with protein product		607392				11118213, 15096513	Standard	NM_015472		Approved	TAZ, DKFZp586I1419	uc021xfm.1	Q9GZV5	OTTHUMG00000159614	ENST00000465804.1:c.820C>T	3.37:g.149245708G>A	ENSP00000419465:p.Pro274Ser		D3DNH7|Q8N3P2|Q9Y3W6	Missense_Mutation	SNP	ENST00000465804.1	37	CCDS3144.1	.	.	.	.	.	.	.	.	.	.	G	9.472	1.095889	0.20552	.	.	ENSG00000018408	ENST00000465804;ENST00000360632;ENST00000467467;ENST00000472417	T;T;T	0.39997	1.05;1.05;1.05	5.09	-5.53	0.02552	.	1.354690	0.04316	N	0.349895	T	0.18045	0.0433	N	0.10874	0.06	0.18873	N	0.999985	B	0.02656	0.0	B	0.01281	0.0	T	0.13629	-1.0502	10	0.14252	T	0.57	-0.4524	3.9669	0.09436	0.1546:0.2195:0.4838:0.1421	.	274	Q9GZV5	WWTR1_HUMAN	S	274;274;274;132	ENSP00000419465:P274S;ENSP00000353847:P274S;ENSP00000419234:P274S	ENSP00000353847:P274S	P	-	1	0	WWTR1	150728398	0.729000	0.28090	0.187000	0.23214	0.947000	0.59692	-0.308000	0.08156	-0.491000	0.06697	0.644000	0.83932	CCA		0.498	WWTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356498.1	NM_015472		A	149245708	G	A	149245708	3	1	745	1	0	0	0	0	1	0	0	0	17422	1232	43	2	394	2	WWTR1	3	149245708	Missense_Mutation	SNP	G	TCGA-KO-8404-01A-11D-2310-10	19147030	149245708	48776722	29	43583											
HTR3E	285242	broad.mit.edu;mdanderson.org	37	3	183824286	183824287	+	Missense_Mutation	DNP	GC	GC	TG			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	GC	GC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr3:183824286_183824287GC>TG	ENST00000415389.2	+	9	1642_1643	c.1176_1177GC>TG	c.(1174-1179)atGCcg>atTGcg	p.392_393MP>IA	HTR3E_ENST00000425359.2_Missense_Mutation_p.377_378MP>IA|HTR3E_ENST00000440596.2_Missense_Mutation_p.418_419MP>IA|HTR3E_ENST00000436361.2_Missense_Mutation_p.392_393MP>IA|HTR3E_ENST00000335304.2_Missense_Mutation_p.407_408MP>IA|HTR3E-AS1_ENST00000431427.1_RNA	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	392					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	CAGGGCAGATGCCGGGCCCTGC	0.609																																					Melanoma(7;227 727 6634 44770)											0																																										SO:0001583	missense	285242			AY159813	CCDS3251.1, CCDS58868.1, CCDS58869.1, CCDS58870.1, CCDS58871.1	3q27	2012-05-22	2012-02-03		ENSG00000186038	ENSG00000186038		"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	24005	protein-coding gene	gene with protein product		610123	"5-hydroxytryptamine (serotonin) receptor 3, family member E"			12801637, 15157181	Standard	NM_001256613		Approved		uc010hxr.3	A5X5Y0	OTTHUMG00000156857	Exception_encountered	3.37:g.183824286_183824287delinsTG	ENSP00000401444:p.M392_P393delinsIA		A8IKD7|E9PGF1|Q495G1|Q495G3|Q6V706|Q6V707|Q7Z6B2	Missense_Mutation	DNP	ENST00000415389.2	37	CCDS58868.1																																																																																				0.609	HTR3E-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346284.1	NM_182589		TG	183824287	GC	TG	183824286	3	4	745	1	0	0	0	0	1	0	0	0	7450	1319	46	4	1251	4	HTR3E	3	183824286	Missense_Mutation	DNP	GC	TCGA-KO-8404-01A-11D-2310-10	34578578	183824286	14198144	30	43584											
TMEM175	84286	bcgsc.ca	37	4	951677	951677	+	Missense_Mutation	SNP	T	T	A			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr4:951677T>A	ENST00000264771.4	+	11	1093	c.908T>A	c.(907-909)cTg>cAg	p.L303Q	TMEM175_ENST00000515740.1_Missense_Mutation_p.L187Q|TMEM175_ENST00000508204.1_Missense_Mutation_p.L221Q	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	303						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)			GTGGCCGCCCTGAGTGCGACC	0.622																																																0													49	53	52					4																	951677		2203	4300	6503	SO:0001583	missense	84286			BC005158	CCDS3341.1, CCDS75087.1, CCDS75088.1	4p16.3	2008-02-05			ENSG00000127419	ENSG00000127419			28709	protein-coding gene	gene with protein product						12477932	Standard	XM_005272301		Approved	MGC4618	uc003gbq.3	Q9BSA9	OTTHUMG00000118996	ENST00000264771.4:c.908T>A	4.37:g.951677T>A	ENSP00000264771:p.Leu303Gln		D3DVN4|Q8ND13	Missense_Mutation	SNP	ENST00000264771.4	37	CCDS3341.1	.	.	.	.	.	.	.	.	.	.	T	14.61	2.587414	0.46110	.	.	ENSG00000127419	ENST00000264771;ENST00000515740;ENST00000508204;ENST00000510493	T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02	4.82	4.82	0.62117	.	0.087962	0.47455	D	0.000234	D	0.82724	0.5099	H	0.95574	3.69	0.49483	D	0.999792	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85480	0.1178	10	0.87932	D	0	-18.6448	7.9391	0.29948	0.1832:0.0:0.0:0.8168	.	221;303	D3DVN5;Q9BSA9	.;TM175_HUMAN	Q	303;187;221;221	ENSP00000264771:L303Q;ENSP00000427039:L187Q;ENSP00000423669:L221Q;ENSP00000424208:L221Q	ENSP00000264771:L303Q	L	+	2	0	TMEM175	941677	1.000000	0.71417	0.942000	0.38095	0.010000	0.07245	5.515000	0.67049	1.804000	0.52760	0.402000	0.26972	CTG		0.622	TMEM175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239193.2	NM_032326		A	951677	T	A	951677	3	1	745	1	0	0	0	0	1	0	0	0	16096	1580	55	5	946	5	TMEM175	4	951677	Missense_Mutation	SNP	T	TCGA-KO-8404-01A-11D-2310-10		951677	190202599	31	43585											
OTOP1	133060	mdanderson.org	37	4	4190576	4190577	+	Missense_Mutation	DNP	CG	CG	GC	rs200368405|rs199742451		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	CG	CG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr4:4190576_4190577CG>GC	ENST00000296358.4	-	6	1816_1817	c.1792_1793CG>GC	c.(1792-1794)CGa>GCa	p.R598A		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	598					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)		TGCGTGCATTCGATAGAAAATA	0.46																																																0																																										SO:0001583	missense	133060			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.1792_1793delinsGC	4.37:g.4190576_4190577delinsGC	ENSP00000296358:p.Arg598Ala		A1L476	Missense_Mutation	DNP	ENST00000296358.4	37	CCDS3372.1																																																																																				0.46	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		GC	4190577	CG	GC	4190576	3	3	745	1	0	0	0	0	1	0	0	0	11307	884	31	4	49	4	OTOP1	4	4190576	Missense_Mutation	DNP	CG	TCGA-KO-8404-01A-11D-2310-10	3238899	4190576	186963700	32	43586											
NCAPG	64151	broad.mit.edu	37	4	17844972	17844973	+	Frame_Shift_Ins	INS	-	-	A	rs75077775		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr4:17844972_17844973insA	ENST00000251496.2	+	21	3148_3149	c.2972_2973insA	c.(2971-2976)ccaagafs	p.R992fs	LCORL_ENST00000326877.4_3'UTR	NM_022346.4	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	992					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)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		ATGAGACTACCAAGACGAGCCA	0.366																																																0																																										SO:0001589	frameshift_variant	64151			AF331796	CCDS3424.1	4p15.32	2014-01-15			ENSG00000109805	ENSG00000109805			24304	protein-coding gene	gene with protein product	"chromosome condensation protein G"	606280				10910072, 11136719	Standard	NM_022346		Approved	FLJ12450, hCAP-G, CAP-G, YCG1	uc003gpp.4	Q9BPX3	OTTHUMG00000128539	ENST00000251496.2:c.2974dupA	4.37:g.17844974_17844974dupA	ENSP00000251496:p.Arg992fs		Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Frame_Shift_Ins	INS	ENST00000251496.2	37	CCDS3424.1																																																																																				0.366	NCAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250375.1	NM_022346		A	17844973	-	A	17844972	7	5	745	1	0	1	1	0	0	0	0	0	10209	594	21	0	3054	0	NCAPG	4	17844972	Frame_Shift_Ins	INS	-	TCGA-KO-8404-01A-11D-2310-10	13654396	17844972	173309304	33	43587											
UGT2A3	79799	broad.mit.edu;mdanderson.org	37	4	69795705	69795705	+	Silent	SNP	T	T	G			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr4:69795705T>G	ENST00000251566.4	-	6	1440	c.1410A>C	c.(1408-1410)ggA>ggC	p.G470G	UGT2A3_ENST00000420231.2_Silent_p.G181G	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	470					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						GGTGCTTGGCTCCTTTGTGGC	0.488																																																0													91	91	91					4																	69795705		2203	4300	6503	SO:0001819	synonymous_variant	79799				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.1410A>C	4.37:g.69795705T>G			Q9H6S4	Silent	SNP	ENST00000251566.4	37	CCDS3525.1																																																																																				0.488	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1	NM_024743		G	69795705	T	G	69795705	2	3	745	1	0	0	0	0	0	0	0	1	16960	1538	54	5		5	UGT2A3	4	69795705	Silent	SNP	T	TCGA-KO-8404-01A-11D-2310-10	51950733	69795705	121358571	34	43588											
FAM190A	401145	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	4	91229575	91229575	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr4:91229575C>T	ENST00000509176.1	+	2	428	c.140C>T	c.(139-141)tCc>tTc	p.S47F	CCSER1_ENST00000333691.8_Missense_Mutation_p.S47F|CCSER1_ENST00000432775.2_Missense_Mutation_p.S47F	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	47	Ser-rich.																TCCTCTCCTTCCAGCACTAAC	0.453																																																0													120	112	115					4																	91229575		1987	4176	6163	SO:0001583	missense	401145				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.140C>T	4.37:g.91229575C>T	ENSP00000425040:p.Ser47Phe		Q4W5M0|Q86V57	Missense_Mutation	SNP	ENST00000509176.1	37	CCDS47099.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.344682	0.82022	.	.	ENSG00000184305	ENST00000509176;ENST00000432775;ENST00000333691;ENST00000458365	T;T;T	0.62364	0.48;0.03;0.48	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.75591	0.3870	L	0.48642	1.525	0.48762	D	0.999704	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.77013	-0.2745	10	0.87932	D	0	-12.7559	19.5936	0.95526	0.0:1.0:0.0:0.0	.	47;47;47	Q9C0I3-2;Q9C0I3;E7EUW0	.;F190A_HUMAN;.	F	47	ENSP00000425040:S47F;ENSP00000389283:S47F;ENSP00000329482:S47F	ENSP00000329482:S47F	S	+	2	0	FAM190A	91448598	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.221000	0.78016	2.793000	0.96121	0.655000	0.94253	TCC		0.453	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363109.3	NM_001145065		T	91229575	C	T	91229575	3	4	745	1	0	0	0	0	1	0	0	0	5523	855	30	2	142	2	FAM190A	4	91229575	Missense_Mutation	SNP	C	TCGA-KO-8404-01A-11D-2310-10	21433870	91229575	99924701	35	43589											
TTC29	83894	mdanderson.org;bcgsc.ca	37	4	147795877	147795877	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr4:147795877C>T	ENST00000325106.4	-	7	1016	c.790G>A	c.(790-792)Gcc>Acc	p.A264T	TTC29_ENST00000398886.4_Missense_Mutation_p.A290T|TTC29_ENST00000513335.1_Missense_Mutation_p.A290T	NM_031956.2	NP_114162.2	Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	264										breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					CCTTCTTTGGCTATTTCAGAA	0.378																																																0													87	76	79					4																	147795877		1811	4081	5892	SO:0001583	missense	83894			AF345910	CCDS47141.1, CCDS75200.1	4q31.23	2013-01-11				ENSG00000137473		"Tetratricopeptide (TTC) repeat domain containing"	29936	protein-coding gene	gene with protein product						12477932	Standard	NM_031956		Approved	NYD-SP14	uc003ikw.4	Q8NA56		ENST00000325106.4:c.790G>A	4.37:g.147795877C>T	ENSP00000316740:p.Ala264Thr		A4GU95|Q9BXB6	Missense_Mutation	SNP	ENST00000325106.4	37	CCDS47141.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.998966	0.74818	.	.	ENSG00000137473	ENST00000513335;ENST00000398886;ENST00000325106;ENST00000398883;ENST00000504425	T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05	5.91	5.07	0.68467	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.88362	0.6416	M	0.84326	2.69	0.44373	D	0.997274	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.997	D	0.88848	0.3317	10	0.45353	T	0.12	-6.6357	15.049	0.71850	0.0:0.9324:0.0:0.0676	.	264;290;264	E7EQ14;G5E9Z5;Q8NA56	.;.;TTC29_HUMAN	T	290;290;264;264;264	ENSP00000423505:A290T;ENSP00000381861:A290T;ENSP00000316740:A264T;ENSP00000425778:A264T	ENSP00000316740:A264T	A	-	1	0	TTC29	148015327	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.085000	0.57657	1.509000	0.48786	-0.136000	0.14681	GCC		0.378	TTC29-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_031956		T	147795877	C	T	147795877	3	4	745	1	0	0	0	0	1	0	0	0	16701	797	28	2	665	2	TTC29	4	147795877	Missense_Mutation	SNP	C	TCGA-KO-8404-01A-11D-2310-10	56566302	147795877	43358399	36	43590											
PAPD7	11044	mdanderson.org	37	5	6753008	6753008	+	Missense_Mutation	SNP	C	C	T	rs374089909		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr5:6753008C>T	ENST00000230859.6	+	12	1421	c.1292C>T	c.(1291-1293)cCg>cTg	p.P431L		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	661	PAP-associated.				double-strand break repair (GO:0006302)|mitotic chromosome condensation (GO:0007076)|response to drug (GO:0042493)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|SMC family protein binding (GO:0043221)			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						ATACCTCCACCGACCCTAGGG	0.527																																					NSCLC(7;212 333 5667 23379 46547)											0													99	93	95					5																	6753008		2203	4300	6503	SO:0001583	missense	11044			AF089896	CCDS3871.1	5p15	2010-11-18	2010-01-19	2010-01-19	ENSG00000112941	ENSG00000112941			16705	protein-coding gene	gene with protein product	"topoisomerase-related function protein 4-1", "polymerase (DNA-directed) sigma", "DNA polymerase kappa", "TUTase5"	605198	"polymerase (DNA directed) sigma"	POLS		10066793, 10926539	Standard	NM_006999		Approved	POLK, TRF4, LAK-1, TRF4-1	uc003jdx.1	Q5XG87	OTTHUMG00000090457	ENST00000230859.6:c.1292C>T	5.37:g.6753008C>T	ENSP00000230859:p.Pro431Leu		A8K1E2|M1JCE6|O43289|Q17RZ1|Q9Y6C1	Missense_Mutation	SNP	ENST00000230859.6	37	CCDS3871.1	.	.	.	.	.	.	.	.	.	.	C	15.10	2.733383	0.48939	.	.	ENSG00000112941	ENST00000230859	T	0.29142	1.58	5.35	5.35	0.76521	.	0.402161	0.28589	N	0.014820	T	0.26122	0.0637	L	0.47716	1.5	0.41628	D	0.989006	B;B	0.22146	0.065;0.065	B;B	0.06405	0.002;0.002	T	0.04400	-1.0954	10	0.27785	T	0.31	-12.8162	11.6914	0.51519	0.1764:0.8236:0.0:0.0	.	431;431	B7ZLL4;Q5XG87	.;PAPD7_HUMAN	L	431	ENSP00000230859:P431L	ENSP00000230859:P431L	P	+	2	0	PAPD7	6806008	0.164000	0.22935	0.594000	0.28785	0.998000	0.95712	1.669000	0.37492	2.510000	0.84645	0.655000	0.94253	CCG		0.527	PAPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206904.1	NM_006999		T	6753008	C	T	6753008	3	4	745	1	0	0	0	0	1	0	0	0	11428	652	23	1	1334	1	PAPD7	5	6753008	Missense_Mutation	SNP	C	TCGA-KO-8404-01A-11D-2310-10		6753008	174162252	37	43591											
OCLN	100506658	broad.mit.edu	37	5	68840857	68840857	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr5:68840857delA	ENST00000355237.2	+	6	1600	c.1164delA	c.(1162-1164)ggafs	p.G388fs	OCLN_ENST00000538151.1_Frame_Shift_Del_p.G137fs|OCLN_ENST00000396442.2_Frame_Shift_Del_p.G388fs|OCLN_ENST00000542132.1_Frame_Shift_Del_p.G66fs|OCLN_ENST00000380766.2_Frame_Shift_Del_p.G334fs|OCLN_ENST00000514370.1_3'UTR	NM_002538.3	NP_002529.1	Q16625	OCLN_HUMAN	occludin	388					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)		GAAGAGCAGGAAGGTCAAAGA	0.512																																																0													56	51	53					5																	68840857		1747	3481	5228	SO:0001589	frameshift_variant	100506658			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.1164delA	5.37:g.68840857delA	ENSP00000347379:p.Gly388fs		B5BU70|D2DU64|D2DU65|D2IGC0|D2IGC1|E2CYV9|Q5U1V4|Q8N6K1	Frame_Shift_Del	DEL	ENST00000355237.2	37	CCDS4006.1																																																																																				0.512	OCLN-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216794.1	NM_002538		-	68840857	A	-	68840857	7	5	745	1	0	1	0	1	0	0	0	0	10822	233	9	0	1182	0	OCLN	5	68840857	Frame_Shift_Del	DEL	A	TCGA-KO-8404-01A-11D-2310-10	62087849	68840857	112074403	38	43592											
CAMK4	814	broad.mit.edu	37	5	110560256	110560257	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr5:110560256_110560257insG	ENST00000282356.4	+	1	473_474	c.75_76insG	c.(76-78)gcgfs	p.A26fs	CAMK4_ENST00000512453.1_Frame_Shift_Ins_p.A26fs	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	26					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|long-term memory (GO:0007616)|myeloid dendritic cell differentiation (GO:0043011)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleocytoplasmic transport (GO:0006913)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of osteoclast differentiation (GO:0045670)|regulation of T cell differentiation in thymus (GO:0033081)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		CCCCGGGGACCGCGAGCCTCGT	0.673																																																0																																										SO:0001589	frameshift_variant	814			D30742	CCDS4103.1	5q22.1	2012-09-20			ENSG00000152495	ENSG00000152495	2.7.11.17		1464	protein-coding gene	gene with protein product	"brain Ca++-calmodulin-dependent protein kinase type IV", "calcium/calmodulin-dependent protein kinase type IV catalytic chain", "CAM kinase IV", "CAM kinase- GR"	114080				2536634	Standard	NM_001744		Approved	CaMK-GR	uc003kpf.3	Q16566	OTTHUMG00000128792	ENST00000282356.4:c.76dupG	5.37:g.110560257_110560257dupG	ENSP00000282356:p.Ala26fs		D3DSZ7	Frame_Shift_Ins	INS	ENST00000282356.4	37	CCDS4103.1																																																																																				0.673	CAMK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250719.2	NM_001744		G	110560257	-	G	110560256	7	5	745	1	0	1	1	0	0	0	0	0	2607	639	23	0	77	0	CAMK4	5	110560256	Frame_Shift_Ins	INS	-	TCGA-KO-8404-01A-11D-2310-10	41719399	110560256	70355004	39	43593											
SEMA6A	57556	broad.mit.edu	37	5	115782974	115782975	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr5:115782974_115782975insG	ENST00000343348.6	-	19	3214_3215	c.2427_2428insC	c.(2425-2430)cccagcfs	p.S810fs	CTB-118N6.3_ENST00000508640.1_RNA|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000513137.1_Frame_Shift_Ins_p.S237fs|CTB-118N6.3_ENST00000508424.1_RNA|SEMA6A_ENST00000257414.8_Frame_Shift_Ins_p.S827fs|CTB-118N6.3_ENST00000514214.1_RNA|CTB-118N6.3_ENST00000512128.1_RNA|SEMA6A_ENST00000282394.6_Frame_Shift_Ins_p.S287fs|SEMA6A_ENST00000510263.1_Frame_Shift_Ins_p.S810fs|SEMA6A_ENST00000503865.1_Frame_Shift_Ins_p.S189fs	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	810	Pro-rich.				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)		GGGATGTGGCTGGGGGAGGCCC	0.639																																																0																																										SO:0001589	frameshift_variant	57556			AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"Semaphorins"	10738	protein-coding gene	gene with protein product	"sema VIa"	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.2428dupC	5.37:g.115782979_115782979dupG	ENSP00000345512:p.Ser810fs		Q9P2H9	Frame_Shift_Ins	INS	ENST00000343348.6	37	CCDS47256.1																																																																																				0.639	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796		G	115782975	-	G	115782974	7	5	745	1	0	1	1	0	0	0	0	0	14045	1580	55	0	668	0	SEMA6A	5	115782974	Frame_Shift_Ins	INS	-	TCGA-KO-8404-01A-11D-2310-10	5222718	115782974	65132286	40	43594											
PCDHB10	56126	mdanderson.org	37	5	140573473	140573473	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr5:140573473G>A	ENST00000239446.4	+	1	1532	c.1348G>A	c.(1348-1350)Gcc>Acc	p.A450T		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	450	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)			CAACGCCCCCGCCTTCACCCA	0.592																																																0													54	55	55					5																	140573473		2203	4291	6494	SO:0001583	missense	56126			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.1348G>A	5.37:g.140573473G>A	ENSP00000239446:p.Ala450Thr		Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	g	3.869	-0.028342	0.07589	.	.	ENSG00000120324	ENST00000239446	T	0.01767	4.65	3.22	-0.906	0.10524	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.01320	0.0043	N	0.20845	0.615	0.09310	N	1	B	0.15473	0.013	B	0.12156	0.007	T	0.48514	-0.9029	9	0.18710	T	0.47	.	7.9509	0.30014	0.4614:0.0:0.5386:0.0	.	450	Q9UN67	PCDBA_HUMAN	T	450	ENSP00000239446:A450T	ENSP00000239446:A450T	A	+	1	0	PCDHB10	140553657	0.000000	0.05858	0.767000	0.31495	0.527000	0.34593	-0.266000	0.08631	-0.351000	0.08249	-0.274000	0.10170	GCC		0.592	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		A	140573473	G	A	140573473	3	1	745	1	0	0	0	0	1	0	0	0	11537	1087	38	1	1350	1	PCDHB10	5	140573473	Missense_Mutation	SNP	G	TCGA-KO-8404-01A-11D-2310-10	24790499	140573473	40341787	41	43595											
GLRA1	2741	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	5	151202298	151202298	+	Missense_Mutation	SNP	A	A	C			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr5:151202298A>C	ENST00000455880.2	-	9	1596	c.1310T>G	c.(1309-1311)aTt>aGt	p.I437S	GLRA1_ENST00000274576.4_Missense_Mutation_p.I429S|GLRA1_ENST00000545569.1_Missense_Mutation_p.I346S			P23415	GLRA1_HUMAN	glycine receptor, alpha 1	437					acrosome reaction (GO:0007340)|action potential (GO:0001508)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|muscle contraction (GO:0006936)|negative regulation of transmission of nerve impulse (GO:0051970)|neuromuscular process controlling posture (GO:0050884)|neuropeptide signaling pathway (GO:0007218)|positive regulation of acrosome reaction (GO:2000344)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|external side of plasma membrane (GO:0009897)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|taurine binding (GO:0030977)|transmitter-gated ion channel activity (GO:0022824)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Ginkgo biloba(DB01381)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Lindane(DB00431)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CATGTTGAAAATGAGGAAGGC	0.512																																																0													109	114	112					5																	151202298		2203	4300	6503	SO:0001583	missense	2741				CCDS4320.1, CCDS54942.1	5q33.1	2012-02-07	2008-01-24		ENSG00000145888	ENSG00000145888		"Ligand-gated ion channels / Glycine receptors"	4326	protein-coding gene	gene with protein product	"startle disease/hyperekplexia", "stiff person syndrome"	138491	"glycine receptor, alpha 1 (startle disease/hyperekplexia)"	STHE		1355335, 8298642	Standard	NM_000171		Approved		uc003lut.3	P23415	OTTHUMG00000130121	ENST00000455880.2:c.1310T>G	5.37:g.151202298A>C	ENSP00000411593:p.Ile437Ser		B2R6T3|Q14C77|Q6DJV9	Missense_Mutation	SNP	ENST00000455880.2	37	CCDS54942.1	.	.	.	.	.	.	.	.	.	.	A	19.94	3.920068	0.73098	.	.	ENSG00000145888	ENST00000274576;ENST00000455880;ENST00000545569	D;D;D	0.86366	-2.11;-2.11;-2.11	5.03	5.03	0.67393	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.91310	0.7260	M	0.62088	1.915	0.58432	D	0.999999	D;D;P	0.57899	0.981;0.981;0.75	P;P;P	0.62382	0.901;0.901;0.697	D	0.92146	0.5724	10	0.66056	D	0.02	.	14.7566	0.69569	1.0:0.0:0.0:0.0	.	437;346;429	P23415;Q14C71;P23415-2	GLRA1_HUMAN;.;.	S	429;437;346	ENSP00000274576:I429S;ENSP00000411593:I437S;ENSP00000445913:I346S	ENSP00000274576:I429S	I	-	2	0	GLRA1	151182491	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.068000	0.93961	1.871000	0.54225	0.460000	0.39030	ATT		0.512	GLRA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373959.1			C	151202298	A	C	151202298	3	2	745	1	0	0	0	0	1	0	0	0	6456	101	4	5	67	5	GLRA1	5	151202298	Missense_Mutation	SNP	A	TCGA-KO-8404-01A-11D-2310-10	10628825	151202298	29712962	42	43596											
OR2B2	81697	bcgsc.ca	37	6	27879484	27879484	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr6:27879484A>G	ENST00000303324.2	-	1	690	c.614T>C	c.(613-615)cTa>cCa	p.L205P		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	205						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(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						TAGAAGGAATAGCACACTGAT	0.428																																																0													119	109	112					6																	27879484		2203	4300	6503	SO:0001583	missense	81697			Z98744	CCDS4641.1	6p22.3-p21.3	2014-02-19	2002-02-28		ENSG00000168131	ENSG00000168131		"GPCR / Class A : Olfactory receptors"	13966	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily B, member 9"	OR2B9			Standard	NM_033057		Approved	hs6M1-10, OR6-1, OR2B2Q	uc011dkw.2	Q9GZK3	OTTHUMG00000014495	ENST00000303324.2:c.614T>C	6.37:g.27879484A>G	ENSP00000304419:p.Leu205Pro		B2RNH2|Q9GZL2|Q9Y299	Missense_Mutation	SNP	ENST00000303324.2	37	CCDS4641.1	.	.	.	.	.	.	.	.	.	.	A	10.11	1.260357	0.23051	.	.	ENSG00000168131	ENST00000303324	T	0.44881	0.91	4.32	3.15	0.36227	GPCR, rhodopsin-like superfamily (1);	0.255751	0.19627	N	0.109774	T	0.38026	0.1025	L	0.55017	1.72	0.25548	N	0.987118	D	0.69078	0.997	D	0.68483	0.958	T	0.15492	-1.0435	10	0.62326	D	0.03	.	6.1028	0.20057	0.7868:0.0:0.2132:0.0	.	205	Q9GZK3	OR2B2_HUMAN	P	205	ENSP00000304419:L205P	ENSP00000304419:L205P	L	-	2	0	OR2B2	27987463	0.015000	0.18098	0.674000	0.29902	0.056000	0.15407	2.805000	0.47939	0.757000	0.33036	0.460000	0.39030	CTA		0.428	OR2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040163.1			G	27879484	A	G	27879484	3	3	745	1	0	0	0	0	1	0	0	0	10991	420	15	3	463	3	OR2B2	6	27879484	Missense_Mutation	SNP	A	TCGA-KO-8404-01A-11D-2310-10		27879484	143235583	43	43597											
SCAND3	114821	hgsc.bcm.edu;ucsc.edu	37	6	28542931	28542931	+	Silent	SNP	A	A	T			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr6:28542931A>T	ENST00000452236.2	-	3	2168	c.1551T>A	c.(1549-1551)acT>acA	p.T517T	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						TTTCACATGGAGTCTGTTGCA	0.423																																																0													134	131	132					6																	28542931		2203	4300	6503	SO:0001819	synonymous_variant	114821																														ENST00000452236.2:c.1551T>A	6.37:g.28542931A>T				Silent	SNP	ENST00000452236.2	37	CCDS34355.1																																																																																				0.423	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			T	28542931	A	T	28542931	2	4	745	1	0	0	0	0	0	0	0	1	13882	291	11	5		5	SCAND3	6	28542931	Silent	SNP	A	TCGA-KO-8404-01A-11D-2310-10	663447	28542931	142572136	44	43598											
CCHCR1	54535	broad.mit.edu;hgsc.bcm.edu	37	6	31122478	31122478	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr6:31122478A>G	ENST00000376266.5	-	4	451	c.329T>C	c.(328-330)cTc>cCc	p.L110P	CCHCR1_ENST00000396268.3_Missense_Mutation_p.L199P|CCHCR1_ENST00000451521.2_Missense_Mutation_p.L163P|CCHCR1_ENST00000480060.1_Intron|CCHCR1_ENST00000396263.2_Missense_Mutation_p.L110P	NM_019052.3	NP_061925.2	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	110					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein export from nucleus (GO:0006611)	centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						CTCCCGCAGGAGCCGGACCTC	0.687																																																0													37	44	41					6																	31122478		1507	2709	4216	SO:0001583	missense	54535			AF216493	CCDS4695.1, CCDS43445.1, CCDS47397.1	6p21.3	2007-08-01	2005-02-15	2005-02-16	ENSG00000204536	ENSG00000204536			13930	protein-coding gene	gene with protein product		605310	"chromosome 6 open reading frame 18"	C6orf18		10888604, 10545595	Standard	NM_019052		Approved	HCR	uc003nsp.4	Q8TD31	OTTHUMG00000031112	ENST00000376266.5:c.329T>C	6.37:g.31122478A>G	ENSP00000365442:p.Leu110Pro		A2ABH6|E9PE84|Q2TB67|Q5SQ82|Q5STE9|Q9NRK8|Q9NWY9|Q9NXJ4|Q9NXK3|Q9Y6W1|Q9Y6W2	Missense_Mutation	SNP	ENST00000376266.5	37	CCDS4695.1	.	.	.	.	.	.	.	.	.	.	A	11.52	1.664623	0.29604	.	.	ENSG00000204536	ENST00000396268;ENST00000376266;ENST00000396263;ENST00000440185;ENST00000451521;ENST00000448141;ENST00000508683;ENST00000448162;ENST00000513222;ENST00000503420;ENST00000515274;ENST00000507751;ENST00000455279;ENST00000412245;ENST00000503934;ENST00000426967;ENST00000502557;ENST00000507829	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.03772	3.81;3.81;3.81;3.81;3.81;3.81;3.81;3.81;3.81;3.81;3.81;3.81;3.81;3.81;3.81	4.8	-6.7	0.01766	.	1.580850	0.03945	N	0.287466	T	0.01627	0.0052	N	0.22421	0.69	0.09310	N	0.999998	P;P;P;P;P	0.48407	0.583;0.523;0.523;0.91;0.666	B;B;B;P;B	0.48089	0.378;0.305;0.305;0.566;0.261	T	0.25257	-1.0137	10	0.27082	T	0.32	0.1774	10.2498	0.43362	0.2359:0.14:0.6242:0.0	.	110;110;110;163;199	B4DIA2;A8K081;Q8TD31;E9PE84;Q8TD31-2	.;.;CCHCR_HUMAN;.;.	P	199;110;110;110;163;74;74;110;84;74;110;110;110;136;110;208;110;110	ENSP00000379566:L199P;ENSP00000365442:L110P;ENSP00000379561:L110P;ENSP00000401039:L163P;ENSP00000414323:L74P;ENSP00000421393:L74P;ENSP00000390027:L110P;ENSP00000425682:L84P;ENSP00000421992:L74P;ENSP00000420941:L110P;ENSP00000398715:L110P;ENSP00000425595:L110P;ENSP00000402432:L208P;ENSP00000425377:L110P;ENSP00000420911:L110P	ENSP00000365442:L110P	L	-	2	0	CCHCR1	31230457	0.000000	0.05858	0.027000	0.17364	0.413000	0.31143	-0.838000	0.04372	-1.150000	0.02840	-0.312000	0.09012	CTC		0.687	CCHCR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076190.5	NM_019052		G	31122478	A	G	31122478	3	3	745	1	0	0	0	0	1	0	0	0	2879	304	11	3	2079	3	CCHCR1	6	31122478	Missense_Mutation	SNP	A	TCGA-KO-8404-01A-11D-2310-10	2579547	31122478	139992589	45	43599											
HLA-DRB5	3127	mdanderson.org	37	6	32487390	32487390	+	Missense_Mutation	SNP	T	T	G	rs77180119	byFrequency	TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr6:32487390T>G	ENST00000374975.3	-	3	471	c.409A>C	c.(409-411)Acc>Ccc	p.T137P		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						TGCTGCAGGGTCTGGGTCCTT	0.517													G|||	3551	0.709065	0.736	0.8357	5008	,	,		6170	0.6498		0.7823	False		,,,				2504	0.5685															0								G	PRO/THR	2269,1289		1096,77,606	38	41	40		409	1.7	1	6	dbSNP_131	40	5238,2644		2530,178,1233	no	missense	HLA-DRB5	NM_002125.3	38	3626,255,1839	GG,GT,TT		33.5448,36.2282,34.3794	benign	137/267	32487390	7507,3933	1779	3941	5720	SO:0001583	missense	3127				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.409A>C	6.37:g.32487390T>G	ENSP00000364114:p.Thr137Pro			Missense_Mutation	SNP	ENST00000374975.3	37	CCDS4751.1	1531	0.701007326007326	316	0.6422764227642277	279	0.7707182320441989	384	0.6713286713286714	552	0.7282321899736148	.	0.033	-1.320251	0.01320	0.637718	0.664552	ENSG00000198502	ENST00000374975	T	0.02890	4.12	4.69	1.73	0.24493	Immunoglobulin-like (1);Immunoglobulin C1-set (1);Immunoglobulin-like fold (1);	0.662393	0.15664	N	0.250756	T	0.00241	0.0007	N	0.00360	-1.595	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.38178	-0.9673	9	0.02654	T	1	.	7.637	0.28272	0.0:0.2436:0.342:0.4144	.	64;137	Q29973;Q30154	.;DRB5_HUMAN	P	137	ENSP00000364114:T137P	ENSP00000364114:T137P	T	-	1	0	HLA-DRB5	32595368	0.029000	0.19370	0.970000	0.41538	0.617000	0.37484	0.078000	0.14761	0.323000	0.23307	-0.947000	0.02670	ACC		0.517	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076022.2	NM_002125		G	32487390	T	G	32487390	3	3	745	1	0	0	0	0	1	0	0	0	7211	1667	58	5	407	5	HLA-DRB5	6	32487390	Missense_Mutation	SNP	T	TCGA-KO-8404-01A-11D-2310-10	1364912	32487390	138627677	46	43600	427	2									
HLA-DRB5	3127	mdanderson.org	37	6	32487398	32487398	+	Missense_Mutation	SNP	C	C	T	rs115198947	byFrequency	TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr6:32487398C>T	ENST00000374975.3	-	3	463	c.401G>A	c.(400-402)aGg>aAg	p.R134K		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						GGTCTGGGTCCTTGCAGGATA	0.507													T|||	3551	0.709065	0.736	0.8357	5008	,	,		5924	0.6498		0.7833	False		,,,				2504	0.5675															0								T	LYS/ARG	2211,1295		1063,85,605	37	40	39		401	2.3	0.1	6	dbSNP_132	39	5153,2663		2482,189,1237	no	missense	HLA-DRB5	NM_002125.3	26	3545,274,1842	TT,TC,CC		34.0711,36.9367,34.9585	benign	134/267	32487398	7364,3958	1753	3908	5661	SO:0001583	missense	3127				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.401G>A	6.37:g.32487398C>T	ENSP00000364114:p.Arg134Lys			Missense_Mutation	SNP	ENST00000374975.3	37	CCDS4751.1	1518	0.695054945054945	313	0.6361788617886179	278	0.7679558011049724	379	0.6625874125874126	548	0.7229551451187335	.	0.317	-0.964494	0.02249	0.630633	0.659289	ENSG00000198502	ENST00000374975	T	0.02552	4.25	4.69	2.31	0.28768	Immunoglobulin-like (1);Immunoglobulin C1-set (1);Immunoglobulin-like fold (1);	0.538580	0.21625	N	0.071572	T	0.00271	0.0008	N	0.00690	-1.25	0.58432	P	1.0000000000287557E-6	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.40175	-0.9577	9	0.02654	T	1	.	7.5532	0.27808	0.0:0.2637:0.0:0.7363	.	61;134	Q29973;Q30154	.;DRB5_HUMAN	K	134	ENSP00000364114:R134K	ENSP00000364114:R134K	R	-	2	0	HLA-DRB5	32595376	0.152000	0.22762	0.066000	0.19879	0.555000	0.35460	0.188000	0.17018	0.099000	0.17552	-0.369000	0.07265	AGG		0.507	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076022.2	NM_002125		T	32487398	C	T	32487398	3	4	745	1	0	0	0	0	1	0	0	0	7211	681	24	2	415	2	HLA-DRB5	6	32487398	Missense_Mutation	SNP	C	TCGA-KO-8404-01A-11D-2310-10	8	32487398	138627669	47	43601	427	2									
HLA-DRB5	3127	mdanderson.org	37	6	32497970	32497970	+	Missense_Mutation	SNP	T	T	C	rs201644181		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr6:32497970T>C	ENST00000374975.3	-	1	94	c.32A>G	c.(31-33)tAc>tGc	p.Y11C		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						CTTTGCCATGTAGGAACCTCC	0.567																																																0													56	64	61					6																	32497970		2172	4263	6435	SO:0001583	missense	3127				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.32A>G	6.37:g.32497970T>C	ENSP00000364114:p.Tyr11Cys			Missense_Mutation	SNP	ENST00000374975.3	37	CCDS4751.1	.	.	.	.	.	.	.	.	.	.	.	0.007	-2.014668	0.00422	.	.	ENSG00000198502	ENST00000374975	T	0.00256	8.42	4.54	0.796	0.18648	MHC classes I/II-like antigen recognition protein (1);	.	.	.	.	T	0.00012	0.0000	N	0.00419	-1.52	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27191	-1.0081	9	0.02654	T	1	.	9.3114	0.37908	0.0:0.755:0.0:0.245	.	11	Q30154	DRB5_HUMAN	C	11	ENSP00000364114:Y11C	ENSP00000364114:Y11C	Y	-	2	0	HLA-DRB5	32605948	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.070000	0.14573	-0.038000	0.13624	-2.830000	0.00107	TAC		0.567	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076022.2	NM_002125		C	32497970	T	C	32497970	3	2	745	1	0	0	0	0	1	0	0	0	7211	1638	57	3	792	3	HLA-DRB5	6	32497970	Missense_Mutation	SNP	T	TCGA-KO-8404-01A-11D-2310-10	10572	32497970	138617097	48	43602											
SYNGAP1	8831	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	6	33405554	33405554	+	Missense_Mutation	SNP	A	A	C			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr6:33405554A>C	ENST00000418600.2	+	8	973	c.872A>C	c.(871-873)tAt>tCt	p.Y291S	SYNGAP1_ENST00000428982.2_Missense_Mutation_p.Y232S|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.Y291S|SYNGAP1_ENST00000496374.1_3'UTR|MIR5004_ENST00000579078.1_RNA	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	291	C2.				dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						GACATGCTGTATGCACGCACC	0.617																																																0													84	86	85					6																	33405554		2203	4300	6503	SO:0001583	missense	8831			AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"synaptic Ras GTPase activating protein 1 homolog (rat)"			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.872A>C	6.37:g.33405554A>C	ENSP00000403636:p.Tyr291Ser		A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Missense_Mutation	SNP	ENST00000418600.2	37	CCDS34434.2	.	.	.	.	.	.	.	.	.	.	A	20.6	4.013696	0.75161	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372;ENST00000428982	T;T;T	0.38077	1.16;1.16;1.16	4.79	4.79	0.61399	C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.142516	0.48767	D	0.000170	T	0.56108	0.1963	M	0.86343	2.81	0.80722	D	1	D;D;D;P	0.89917	1.0;1.0;1.0;0.88	D;D;D;P	0.87578	0.998;0.996;0.996;0.758	T	0.65364	-0.6186	10	0.87932	D	0	.	12.3329	0.55049	1.0:0.0:0.0:0.0	.	291;291;291;291	Q96PV0;Q96PV0-2;Q96PV0-4;B7ZCA0	SYGP1_HUMAN;.;.;.	S	291;291;291;232	ENSP00000293748:Y291S;ENSP00000403636:Y291S;ENSP00000412475:Y232S	ENSP00000293748:Y291S	Y	+	2	0	SYNGAP1	33513532	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.320000	0.79064	2.009000	0.58944	0.533000	0.62120	TAT		0.617	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		C	33405554	A	C	33405554	3	2	745	1	0	0	0	0	1	0	0	0	15452	449	16	5	902	5	SYNGAP1	6	33405554	Missense_Mutation	SNP	A	TCGA-KO-8404-01A-11D-2310-10	907584	33405554	137709513	49	43603											
COL19A1	1310	broad.mit.edu;mdanderson.org	37	6	70873233	70873233	+	Splice_Site	SNP	A	A	T			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr6:70873233A>T	ENST00000322773.4	+	36	2448		c.e36-1		COL19A1_ENST00000393344.1_Splice_Site	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1						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						TGTGTTTTACAGGGCTTAATG	0.403																																																0													86	75	79					6																	70873233		2203	4300	6503	SO:0001630	splice_region_variant	1310				CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"Collagens"	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.2347-1A>T	6.37:g.70873233A>T			Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Splice_Site	SNP	ENST00000322773.4	37	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	A	16.89	3.247720	0.59103	.	.	ENSG00000082293	ENST00000322773;ENST00000393344	.	.	.	6.06	6.06	0.98353	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6154	0.84909	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COL19A1	70929954	1.000000	0.71417	1.000000	0.80357	0.527000	0.34593	6.509000	0.73725	2.315000	0.78130	0.533000	0.62120	.		0.403	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1		Intron	T	70873233	A	T	70873233	5	4	745	1	0	0	0	0	0	0	1	0	3678	202	7	5	2483	5	COL19A1	6	70873233	Splice_Site	SNP	A	TCGA-KO-8404-01A-11D-2310-10	37467679	70873233	100241834	50	43604											
TRIM50	135892	mdanderson.org	37	7	72734197	72734197	+	Silent	SNP	T	T	C	rs3108461		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr7:72734197T>C	ENST00000333149.2	-	3	644	c.444A>G	c.(442-444)aaA>aaG	p.K148K	TRIM50_ENST00000453152.1_Silent_p.K148K|TRIM50_ENST00000493498.1_5'Flank	NM_178125.2	NP_835226.2	Q86XT4	TRI50_HUMAN	tripartite motif containing 50	148						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						CATCCACCTTTTTCTGCTCCT	0.612																																																0																																										SO:0001819	synonymous_variant	135892			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.444A>G	7.37:g.72734197T>C			Q86XT3	Silent	SNP	ENST00000333149.2	37	CCDS34654.1																																																																																				0.612	TRIM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345925.1	NM_178125		C	72734197	T	C	72734197	2	2	745	1	0	0	0	0	0	0	0	1	16531	1838	64	3		3	TRIM50	7	72734197	Silent	SNP	T	TCGA-KO-8404-01A-11D-2310-10		72734197	86404466	51	43605											
NCF1	653361	mdanderson.org	37	7	74197914	74197914	+	Silent	SNP	G	G	A			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr7:74197914G>A	ENST00000289473.4	+	7	691	c.621G>A	c.(619-621)gcG>gcA	p.A207A	NCF1_ENST00000443956.3_3'UTR	NM_000265.4	NP_000256.4	P14598	NCF1_HUMAN	neutrophil cytosolic factor 1	207	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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 proliferation (GO:0008283)|cellular defense response (GO:0006968)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|leukotriene metabolic process (GO:0006691)|negative regulation of smooth muscle contraction (GO:0045986)|neutrophil mediated killing of fungus (GO:0070947)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|protein targeting to membrane (GO:0006612)|respiratory burst (GO:0045730)|respiratory burst involved in defense response (GO:0002679)|response to yeast (GO:0001878)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagolysosome (GO:0032010)|rough endoplasmic reticulum (GO:0005791)	electron carrier activity (GO:0009055)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|SH3 domain binding (GO:0017124)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10					Dextromethorphan(DB00514)	GGATCCCAGCGTCCTTCCTCG	0.637																																																0													72	63	66					7																	74197914		2202	4298	6500	SO:0001819	synonymous_variant	653361			M25665	CCDS34657.1	7q11.23	2014-09-17	2008-07-31		ENSG00000158517	ENSG00000158517			7660	protein-coding gene	gene with protein product	"NADPH oxidase organizer 2", "chronic granulomatous disease, autosomal 1"	608512	"neutrophil cytosolic factor 1 (47kD, chronic granulomatous disease, autosomal 1)"				Standard	NM_000265		Approved	p47phox, NOXO2, NCF1A, SH3PXD1A	uc022aft.1	P14598	OTTHUMG00000149965	ENST00000289473.4:c.621G>A	7.37:g.74197914G>A			A6NEH2|A8K7S9|O43842|Q2PP07|Q53FR5|Q9BU90|Q9BXI7|Q9BXI8|Q9UDV9|Q9UMU2	Silent	SNP	ENST00000289473.4	37	CCDS34657.1																																																																																				0.637	NCF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314560.1	NM_000265		A	74197914	G	A	74197914	2	1	745	1	0	0	0	0	0	0	0	1	10218	1132	40	1		1	NCF1	7	74197914	Silent	SNP	G	TCGA-KO-8404-01A-11D-2310-10	1463717	74197914	84940749	52	43606											
FGL2	10875	broad.mit.edu;mdanderson.org	37	7	76828642	76828642	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr7:76828642G>A	ENST00000248598.5	-	1	501	c.469C>T	c.(469-471)Cgc>Tgc	p.R157C	CCDC146_ENST00000431197.1_Intron|CCDC146_ENST00000285871.4_Intron|RP11-467H10.2_ENST00000459742.1_RNA	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	157						extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						TTCTCCAGGCGACCATGAAGT	0.383																																																0													119	111	114					7																	76828642		2203	4300	6503	SO:0001583	missense	10875			Z36531	CCDS5591.1	7q11.23	2013-02-06			ENSG00000127951	ENSG00000127951		"Fibrinogen C domain containing"	3696	protein-coding gene	gene with protein product		605351				7642106	Standard	NM_006682		Approved	pT49, T49	uc003ugb.3	Q14314	OTTHUMG00000130681	ENST00000248598.5:c.469C>T	7.37:g.76828642G>A	ENSP00000248598:p.Arg157Cys			Missense_Mutation	SNP	ENST00000248598.5	37	CCDS5591.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829255	0.71258	.	.	ENSG00000127951	ENST00000248598	T	0.59772	0.24	6.17	6.17	0.99709	.	0.045951	0.85682	D	0.000000	T	0.74809	0.3765	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.63192	0.912	T	0.74244	-0.3728	10	0.66056	D	0.02	.	20.4745	0.99168	0.0:0.0:1.0:0.0	.	157	Q14314	FGL2_HUMAN	C	157	ENSP00000248598:R157C	ENSP00000248598:R157C	R	-	1	0	FGL2	76666578	0.998000	0.40836	0.955000	0.39395	0.552000	0.35366	3.946000	0.56644	2.941000	0.99782	0.655000	0.94253	CGC		0.383	FGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253176.1	NM_006682		A	76828642	G	A	76828642	3	1	745	1	0	0	0	0	1	0	0	0	5875	1058	37	1	858	1	FGL2	7	76828642	Missense_Mutation	SNP	G	TCGA-KO-8404-01A-11D-2310-10	2630728	76828642	82310021	53	43607											
LMTK2	22853	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	7	97820153	97820153	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr7:97820153C>T	ENST00000297293.5	+	10	1405	c.1112C>T	c.(1111-1113)cCg>cTg	p.P371L		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	371	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					ACAAAACTCCCGAAGCCCCAG	0.488																																																0													164	180	175					7																	97820153		2203	4300	6503	SO:0001583	missense	22853			AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 100"	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.1112C>T	7.37:g.97820153C>T	ENSP00000297293:p.Pro371Leu		A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	ENST00000297293.5	37	CCDS5654.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.579409	0.28180	.	.	ENSG00000164715	ENST00000297293	T	0.65364	-0.15	5.42	4.53	0.55603	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.291823	0.41823	D	0.000810	T	0.57257	0.2041	M	0.69248	2.105	0.45621	D	0.998552	B	0.17268	0.021	B	0.20767	0.031	T	0.54248	-0.8322	10	0.32370	T	0.25	.	9.522	0.39140	0.0:0.853:0.0:0.147	.	371	Q8IWU2	LMTK2_HUMAN	L	371	ENSP00000297293:P371L	ENSP00000297293:P371L	P	+	2	0	LMTK2	97658089	0.992000	0.36948	0.954000	0.39281	0.458000	0.32498	2.730000	0.47335	2.711000	0.92665	0.655000	0.94253	CCG		0.488	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		T	97820153	C	T	97820153	3	4	745	1	0	0	0	0	1	0	0	0	8861	652	23	1	1150	1	LMTK2	7	97820153	Missense_Mutation	SNP	C	TCGA-KO-8404-01A-11D-2310-10	20991511	97820153	61318510	54	43608											
SMO	6608	broad.mit.edu	37	7	128846110	128846111	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr7:128846110_128846111insC	ENST00000249373.3	+	5	1320_1321	c.1040_1041insC	c.(1039-1044)ggcaccfs	p.T348fs		NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled class receptor	348					adenohypophysis development (GO:0021984)|anterior/posterior pattern specification (GO:0009952)|atrial septum morphogenesis (GO:0060413)|axon extension involved in axon guidance (GO:0048846)|canonical Wnt signaling pathway (GO:0060070)|cardioblast differentiation (GO:0010002)|cell fate specification (GO:0001708)|cellular response to cholesterol (GO:0071397)|central nervous system neuron differentiation (GO:0021953)|cerebellar cortex morphogenesis (GO:0021696)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|detection of cell density by contact stimulus involved in contact inhibition (GO:0060248)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|epithelial-mesenchymal cell signaling (GO:0060684)|exocrine pancreas development (GO:0031017)|facial nerve development (GO:0021561)|floor plate formation (GO:0021508)|forebrain morphogenesis (GO:0048853)|gonad development (GO:0008406)|hair follicle morphogenesis (GO:0031069)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal to epithelial transition involved in metanephric renal vesicle formation (GO:0072285)|midgut development (GO:0007494)|multicellular organism growth (GO:0035264)|muscle cell fate commitment (GO:0042693)|myoblast migration (GO:0051451)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of gene expression (GO:0010629)|negative regulation of hair follicle development (GO:0051799)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate commitment (GO:0048663)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|otolith morphogenesis (GO:0032474)|pancreas morphogenesis (GO:0061113)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of heart morphogenesis (GO:2000826)|regulation of stem cell maintenance (GO:2000036)|renal system development (GO:0072001)|semicircular canal morphogenesis (GO:0048752)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021910)|somite development (GO:0061053)|spermatogenesis (GO:0007283)|thalamus development (GO:0021794)|type B pancreatic cell development (GO:0003323)|vasculogenesis (GO:0001570)|ventral midline determination (GO:0007371)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	drug binding (GO:0008144)|G-protein coupled receptor activity (GO:0004930)|patched binding (GO:0005113)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64					Fluocinonide(DB01047)|Vismodegib(DB08828)	AAAGCCCTGGGCACCACCTACC	0.569			Mis		skin basal cell																																		Dom	yes		7	7q31-q32	6608	smoothened homolog (Drosophila)		E	0																																										SO:0001589	frameshift_variant	6608			U84401	CCDS5811.1	7q32.1	2014-01-29	2014-01-29	2003-01-17	ENSG00000128602	ENSG00000128602		"GPCR / Class F : Frizzled receptors"	11119	protein-coding gene	gene with protein product	"frizzled family member 11"	601500	"smoothened (Drosophila) homolog", "smoothened homolog (Drosophila)", "smoothened, seven transmembrane spanning receptor", "smoothened, frizzled family receptor"	SMOH		9628830	Standard	NM_005631		Approved	FZD11	uc003vor.3	Q99835	OTTHUMG00000158421	ENST00000249373.3:c.1041dupC	7.37:g.128846111_128846111dupC	ENSP00000249373:p.Thr348fs		A4D1K5	Frame_Shift_Ins	INS	ENST00000249373.3	37	CCDS5811.1																																																																																				0.569	SMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350986.1	NM_005631		C	128846111	-	C	128846110	7	5	745	1	0	1	1	0	0	0	0	0	14806	1203	42	0	1058	0	SMO	7	128846110	Frame_Shift_Ins	INS	-	TCGA-KO-8404-01A-11D-2310-10	31025957	128846110	30292553	55	43609											
SHH	6469	broad.mit.edu	37	7	155604741	155604742	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr7:155604741_155604742insC	ENST00000297261.2	-	1	225_226	c.75_76insG	c.(73-78)ggaccgfs	p.P26fs		NM_000193.2	NP_000184.1	Q15465	SHH_HUMAN	sonic hedgehog	26			P -> L (in HPE3). {ECO:0000269|PubMed:19603532}.		androgen metabolic process (GO:0008209)|apoptotic signaling pathway (GO:0097190)|artery development (GO:0060840)|axon guidance (GO:0007411)|Bergmann glial cell differentiation (GO:0060020)|blood coagulation (GO:0007596)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|branching morphogenesis of an epithelial tube (GO:0048754)|bud outgrowth involved in lung branching (GO:0060447)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway (GO:0060070)|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment (GO:0043369)|cell development (GO:0048468)|cell fate specification (GO:0001708)|cell-cell signaling (GO:0007267)|cellular response to lithium ion (GO:0071285)|central nervous system development (GO:0007417)|cerebellar granule cell precursor proliferation (GO:0021930)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|dorsal/ventral neural tube patterning (GO:0021904)|dorsal/ventral pattern formation (GO:0009953)|ectoderm development (GO:0007398)|embryo development (GO:0009790)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic skeletal system development (GO:0048706)|endocytosis (GO:0006897)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|establishment of cell polarity (GO:0030010)|forebrain development (GO:0030900)|formation of anatomical boundary (GO:0048859)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|hindgut morphogenesis (GO:0007442)|inner ear development (GO:0048839)|intein-mediated protein splicing (GO:0016539)|intermediate filament organization (GO:0045109)|left lung development (GO:0060459)|limb bud formation (GO:0060174)|lung development (GO:0030324)|lung epithelium development (GO:0060428)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|lymphoid progenitor cell differentiation (GO:0002320)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal smoothened signaling pathway involved in prostate gland development (GO:0060783)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|metanephros development (GO:0001656)|midbrain development (GO:0030901)|multicellular structure septum development (GO:0080125)|myoblast differentiation (GO:0045445)|myotube differentiation (GO:0014902)|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 differentiation (GO:0045596)|negative regulation of cell migration (GO:0030336)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of kidney smooth muscle cell differentiation (GO:2000357)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ureter smooth muscle cell differentiation (GO:2000062)|negative thymic T cell selection (GO:0045060)|neural crest cell migration (GO:0001755)|neuroblast proliferation (GO:0007405)|neuron fate commitment (GO:0048663)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|organ formation (GO:0048645)|osteoblast development (GO:0002076)|palate development (GO:0060021)|pancreas development (GO:0031016)|pattern specification process (GO:0007389)|patterning of blood vessels (GO:0001569)|polarity specification of anterior/posterior axis (GO:0009949)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of immature T cell proliferation in thymus (GO:0033092)|positive regulation of kidney smooth muscle cell differentiation (GO:2000358)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sclerotome development (GO:0061189)|positive regulation of skeletal muscle cell proliferation (GO:0014858)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of striated muscle cell differentiation (GO:0051155)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureter smooth muscle cell differentiation (GO:2000063)|positive regulation of Wnt signaling pathway (GO:0030177)|positive thymic T cell selection (GO:0045059)|primary prostatic bud elongation (GO:0060516)|prostate epithelial cord elongation (GO:0060523)|prostate gland development (GO:0030850)|protein localization to nucleus (GO:0034504)|regulation of cell proliferation (GO:0042127)|regulation of mesenchymal cell proliferation involved in prostate gland development (GO:0060782)|regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900175)|regulation of odontogenesis (GO:0042481)|regulation of prostatic bud formation (GO:0060685)|regulation of protein localization to nucleus (GO:1900180)|regulation of proteolysis (GO:0030162)|renal system development (GO:0072001)|right lung development (GO:0060458)|salivary gland cavitation (GO:0060662)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|somite development (GO:0061053)|spinal cord dorsal/ventral patterning (GO:0021513)|spinal cord motor neuron differentiation (GO:0021522)|stem cell development (GO:0048864)|striated muscle tissue development (GO:0014706)|T cell differentiation in thymus (GO:0033077)|telencephalon regionalization (GO:0021978)|thalamus development (GO:0021794)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|trachea morphogenesis (GO:0060439)|vasculogenesis (GO:0001570)|ventral midline development (GO:0007418)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|laminin-1 binding (GO:0043237)|morphogen activity (GO:0016015)|patched binding (GO:0005113)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCCCTGCCCGGTCCGCACGCCA	0.609																																																0																																										SO:0001589	frameshift_variant	6469				CCDS5942.1	7q36	2010-06-25	2010-06-25		ENSG00000164690	ENSG00000164690			10848	protein-coding gene	gene with protein product		600725	"sonic hedgehog (Drosophila) homolog", "sonic hedgehog homolog (Drosophila)"	HPE3, HLP3		7590746	Standard	NM_000193		Approved	HHG1, SMMCI, TPT, TPTPS, MCOPCB5	uc003wmk.1	Q15465	OTTHUMG00000151349	ENST00000297261.2:c.75_76insG	7.37:g.155604741_155604742insC	ENSP00000297261:p.Pro26fs		A4D247|Q75MC9	Frame_Shift_Ins	INS	ENST00000297261.2	37	CCDS5942.1																																																																																				0.609	SHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322327.1	NM_000193		C	155604742	-	C	155604741	7	5	745	1	0	1	1	0	0	0	0	0	14285	1261	44	0	1324	0	SHH	7	155604741	Frame_Shift_Ins	INS	-	TCGA-KO-8404-01A-11D-2310-10	26758631	155604741	3533922	56	43610											
UBE3C	9690	mdanderson.org	37	7	157041098	157041099	+	Missense_Mutation	DNP	GC	GC	TT			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	GC	GC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr7:157041098_157041099GC>TT	ENST00000348165.5	+	19	2878_2879	c.2518_2519GC>TT	c.(2518-2520)GCa>TTa	p.A840L		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	840	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				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)		GCTGCCCTTTGCAGGCTTCTTT	0.475																																																0																																										SO:0001583	missense	9690			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	Exception_encountered	7.37:g.157041098_157041099delinsTT	ENSP00000309198:p.Ala840Leu		A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	DNP	ENST00000348165.5	37	CCDS34789.1																																																																																				0.475	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671		TT	157041099	GC	TT	157041098	3	4	745	1	0	0	0	0	1	0	0	0	16886	1319	46	4	2592	4	UBE3C	7	157041098	Missense_Mutation	DNP	GC	TCGA-KO-8404-01A-11D-2310-10	1436357	157041098	2097565	57	43611	428	2									
UBE3C	9690	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	7	157041099	157041099	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr7:157041099C>T	ENST00000348165.5	+	19	2879	c.2519C>T	c.(2518-2520)gCa>gTa	p.A840V		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	840	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				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)		CTGCCCTTTGCAGGCTTCTTT	0.478																																																0													94	96	95					7																	157041099		2203	4300	6503	SO:0001583	missense	9690			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.2519C>T	7.37:g.157041099C>T	ENSP00000309198:p.Ala840Val		A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	ENST00000348165.5	37	CCDS34789.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.675491	0.88445	.	.	ENSG00000009335	ENST00000348165	T	0.58797	0.31	5.74	5.74	0.90152	HECT (4);	0.095457	0.64402	D	0.000001	T	0.77532	0.4144	M	0.76433	2.335	0.80722	D	1	D;D	0.65815	0.995;0.995	D;D	0.73708	0.981;0.981	T	0.78899	-0.2022	10	0.87932	D	0	.	19.9123	0.97029	0.0:1.0:0.0:0.0	.	840;693	Q15386;B4DHJ9	UBE3C_HUMAN;.	V	840	ENSP00000309198:A840V	ENSP00000309198:A840V	A	+	2	0	UBE3C	156733860	1.000000	0.71417	0.650000	0.29550	0.169000	0.22640	7.534000	0.82004	2.702000	0.92279	0.655000	0.94253	GCA		0.478	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671		T	157041099	C	T	157041099	3	4	745	1	0	0	0	0	1	0	0	0	16886	710	25	2	2593	2	UBE3C	7	157041099	Missense_Mutation	SNP	C	TCGA-KO-8404-01A-11D-2310-10	1	157041099	2097564	58	43612	428	2									
CSMD1	64478	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	8	2836315	2836315	+	Missense_Mutation	SNP	G	G	T			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr8:2836315G>T	ENST00000520002.1	-	56	8943	c.8388C>A	c.(8386-8388)aaC>aaA	p.N2796K	CSMD1_ENST00000537824.1_Missense_Mutation_p.N2795K|CSMD1_ENST00000602723.1_Missense_Mutation_p.N2738K|CSMD1_ENST00000400186.3_Missense_Mutation_p.N2738K|CSMD1_ENST00000542608.1_Missense_Mutation_p.N2737K|CSMD1_ENST00000602557.1_Missense_Mutation_p.N2796K			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2796	Sushi 20. {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)		GATCAGAACAGTTCACCACTA	0.383																																																0													54	49	50					8																	2836315		1863	4090	5953	SO:0001583	missense	64478					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.8388C>A	8.37:g.2836315G>T	ENSP00000430733:p.Asn2796Lys		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.50|16.50	3.141734|3.141734	0.57044|0.57044	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	.|T;T;T;T	.|0.22945	.|1.93;1.93;1.93;1.93	5.17|5.17	5.17|5.17	0.71159|0.71159	.|Complement control module (2);Sushi/SCR/CCP (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.37293|0.37293	0.0998|0.0998	L|L	0.37697|0.37697	1.125|1.125	0.80722|0.80722	D|D	1|1	.|P;P;D	.|0.76494	.|0.702;0.901;0.999	.|B;P;D	.|0.87578	.|0.182;0.573;0.998	T|T	0.06534|0.06534	-1.0821|-1.0821	5|10	.|0.42905	.|T	.|0.14	.|.	9.4393|9.4393	0.38659|0.38659	0.158:0.0:0.842:0.0|0.158:0.0:0.842:0.0	.|.	.|2796;2796;2737	.|E5RIG2;Q96PZ7;F5H2I8	.|.;CSMD1_HUMAN;.	M|K	2213|2738;2796;2657;2795;2737	.|ENSP00000383047:N2738K;ENSP00000430733:N2796K;ENSP00000441462:N2795K;ENSP00000446243:N2737K	.|ENSP00000320445:N2657K	L|N	-|-	1|3	2|2	CSMD1|CSMD1	2823722|2823722	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.544000|0.544000	0.35116|0.35116	5.212000|5.212000	0.65225|0.65225	2.400000|2.400000	0.81607|0.81607	0.563000|0.563000	0.77884|0.77884	CTG|AAC		0.383	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		T	2836315	G	T	2836315	3	4	745	1	0	0	0	0	1	0	0	0	3946	1020	36	4	2373	4	CSMD1	8	2836315	Missense_Mutation	SNP	G	TCGA-KO-8404-01A-11D-2310-10		2836315	143527707	59	43613											
PABPC1	26986	mdanderson.org	37	8	101719138	101719138	+	Missense_Mutation	SNP	C	C	T	rs79940439		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr8:101719138C>T	ENST00000318607.5	-	10	2552	c.1424G>A	c.(1423-1425)cGa>cAa	p.R475Q	PABPC1_ENST00000522387.1_Missense_Mutation_p.R443Q|PABPC1_ENST00000519004.1_Missense_Mutation_p.R430Q|AP001205.1_ENST00000579868.1_RNA|PABPC1_ENST00000519596.1_Intron	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	475					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)			TGACATGACTCGTGGAACCTG	0.398																																																0													79	75	76					8																	101719138		2203	4300	6503	SO:0001583	missense	26986			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.1424G>A	8.37:g.101719138C>T	ENSP00000313007:p.Arg475Gln		Q15097|Q93004	Missense_Mutation	SNP	ENST00000318607.5	37	CCDS6289.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.8|25.8	4.676811|4.676811	0.88445|0.88445	.|.	.|.	ENSG00000070756|ENSG00000070756	ENST00000520868;ENST00000517403|ENST00000318607;ENST00000519004;ENST00000522387;ENST00000522658	.|T;T;T;T	.|0.45276	.|1.71;1.67;2.73;0.9	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	.|0.128720	.|0.35378	.|N	.|0.003252	T|T	0.33904|0.33904	0.0879|0.0879	L|L	0.28504|0.28504	0.86|0.86	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.18968	.|0.032;0.001;0.001	.|B;B;B	.|0.09377	.|0.004;0.001;0.0	T|T	0.10474|0.10474	-1.0628|-1.0628	5|10	.|0.15952	.|T	.|0.53	.|.	20.0338|20.0338	0.97549|0.97549	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|443;475;475	.|E7ERJ7;B3KT93;P11940	.|.;.;PABP1_HUMAN	K|Q	8;128|475;430;443;22	.|ENSP00000313007:R475Q;ENSP00000429594:R430Q;ENSP00000429395:R443Q;ENSP00000428840:R22Q	.|ENSP00000313007:R475Q	E|R	-|-	1|2	0|0	PABPC1|PABPC1	101788314|101788314	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.212000|7.212000	0.77941|0.77941	2.816000|2.816000	0.96949|0.96949	0.650000|0.650000	0.86243|0.86243	GAG|CGA		0.398	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568		T	101719138	C	T	101719138	3	4	745	1	0	0	0	0	1	0	0	0	11365	884	31	1	506	1	PABPC1	8	101719138	Missense_Mutation	SNP	C	TCGA-KO-8404-01A-11D-2310-10	98882823	101719138	44644884	60	43614											
TG	7038	broad.mit.edu	37	8	133913781	133913782	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr8:133913781_133913782insC	ENST00000220616.4	+	16	3657_3658	c.3617_3618insC	c.(3616-3621)ggccagfs	p.Q1207fs	TG_ENST00000377869.1_Frame_Shift_Ins_p.Q1207fs	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1207	Thyroglobulin type-1 10. {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)		GTGACCGGGGGCCAGCCCGCCT	0.619																																																0																																										SO:0001589	frameshift_variant	7038			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.3619dupC	8.37:g.133913783_133913783dupC	ENSP00000220616:p.Gln1207fs		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Frame_Shift_Ins	INS	ENST00000220616.4	37	CCDS34944.1																																																																																				0.619	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		C	133913782	-	C	133913781	7	5	745	1	0	1	1	0	0	0	0	0	15818	1203	42	0	3679	0	TG	8	133913781	Frame_Shift_Ins	INS	-	TCGA-KO-8404-01A-11D-2310-10	32194643	133913781	12450241	61	43615											
GLDC	2731	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	9	6536228	6536228	+	Missense_Mutation	SNP	C	C	T	rs146939116		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr9:6536228C>T	ENST00000321612.6	-	23	2824	c.2674G>A	c.(2674-2676)Gcc>Acc	p.A892T		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	892					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|glycine dehydrogenase (decarboxylating) activity (GO:0004375)|lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)	ATGGTAGGGGCGTGAAATCCT	0.527																																																0								C	THR/ALA	0,4406		0,0,2203	34	29	31		2674	5.2	1	9	dbSNP_134	31	1,8599	1.2+/-3.3	0,1,4299	no	missense	GLDC	NM_000170.2	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	892/1021	6536228	1,13005	2203	4300	6503	SO:0001583	missense	2731			D90239	CCDS34987.1	9p22	2014-09-17	2006-05-22		ENSG00000178445	ENSG00000178445	1.4.4.2		4313	protein-coding gene	gene with protein product	"glycine cleavage system protein P", "glycine decarboxylase"	238300	"glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)"			1993704, 1996985	Standard	NM_000170		Approved	GCSP, NKH	uc003zkc.3	P23378	OTTHUMG00000019524	ENST00000321612.6:c.2674G>A	9.37:g.6536228C>T	ENSP00000370737:p.Ala892Thr		Q2M2F8	Missense_Mutation	SNP	ENST00000321612.6	37	CCDS34987.1	.	.	.	.	.	.	.	.	.	.	C	34	5.360114	0.95877	0.0	1.16E-4	ENSG00000178445	ENST00000321612	D	0.98178	-4.77	5.21	5.21	0.72293	Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.99336	0.9767	H	0.98199	4.17	0.80722	D	1	D	0.76494	0.999	P	0.60949	0.881	D	0.98633	1.0672	10	0.87932	D	0	-17.3811	19.1172	0.93346	0.0:1.0:0.0:0.0	.	892	P23378	GCSP_HUMAN	T	892	ENSP00000370737:A892T	ENSP00000370737:A892T	A	-	1	0	GLDC	6526228	1.000000	0.71417	0.998000	0.56505	0.924000	0.55760	7.388000	0.79795	2.587000	0.87381	0.305000	0.20034	GCC		0.527	GLDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051674.2	NM_000170		T	6536228	C	T	6536228	3	4	745	1	0	0	0	0	1	0	0	0	6435	768	27	1	400	1	GLDC	9	6536228	Missense_Mutation	SNP	C	TCGA-KO-8404-01A-11D-2310-10		6536228	134677203	62	43616											
ADAMTSL1	92949	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	9	18706839	18706839	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr9:18706839C>T	ENST00000380548.4	+	14	2008	c.1669C>T	c.(1669-1671)Cag>Tag	p.Q557*	ADAMTSL1_ENST00000276935.6_Nonsense_Mutation_p.Q557*	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	557	TSP type-1 4. {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)		GTCTTTCTCTCAGTCCGTGGC	0.602																																																0													52	42	46					9																	18706839		2203	4300	6503	SO:0001587	stop_gained	92949			AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"Immunoglobulin superfamily / I-set domain containing"	14632	protein-coding gene	gene with protein product	"punctin"	609198	"chromosome 9 open reading frame 94"	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.1669C>T	9.37:g.18706839C>T	ENSP00000369921:p.Gln557*		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Nonsense_Mutation	SNP	ENST00000380548.4	37	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	C	44	11.226218	0.99534	.	.	ENSG00000178031	ENST00000380548;ENST00000276935	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	20.0139	0.97470	0.0:1.0:0.0:0.0	.	.	.	.	X	557	.	ENSP00000276935:Q557X	Q	+	1	0	ADAMTSL1	18696839	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	7.739000	0.84976	2.724000	0.93272	0.563000	0.77884	CAG		0.602	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			T	18706839	C	T	18706839	4	4	745	1	0	0	0	0	0	1	0	0	274	827	29	2	1727	2	ADAMTSL1	9	18706839	Nonsense_Mutation	SNP	C	TCGA-KO-8404-01A-11D-2310-10	12170611	18706839	122506592	63	43617											
MUSK	4593	broad.mit.edu	37	9	113459692	113459692	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr9:113459692G>A	ENST00000374448.4	+	5	708	c.574G>A	c.(574-576)Gca>Aca	p.A192T	MUSK_ENST00000416899.2_Missense_Mutation_p.A192T|MUSK_ENST00000374440.3_Missense_Mutation_p.A74T|MUSK_ENST00000189978.5_Missense_Mutation_p.A192T|MUSK_ENST00000374439.1_Missense_Mutation_p.A74T	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	192	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						TCGATGTGTGGCAAAAAACAG	0.483																																																0													138	139	138					9																	113459692		1948	4152	6100	SO:0001583	missense	4593			AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.574G>A	9.37:g.113459692G>A	ENSP00000363571:p.Ala192Thr		Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Missense_Mutation	SNP	ENST00000374448.4	37	CCDS48005.1	.	.	.	.	.	.	.	.	.	.	G	32	5.177234	0.94846	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000374440;ENST00000416899;ENST00000374439	T;T;T	0.76448	-1.02;-1.02;-1.02	5.88	5.88	0.94601	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.90693	0.7080	M	0.90082	3.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.995	D	0.91853	0.5493	10	0.87932	D	0	.	18.8079	0.92045	0.0:0.0:1.0:0.0	.	192;192	O15146;F5H6T2	MUSK_HUMAN;.	T	192;192;192;192;192;74;192;74	ENSP00000363571:A192T;ENSP00000363563:A74T;ENSP00000363562:A74T	ENSP00000189978:A192T	A	+	1	0	MUSK	112499513	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.991000	0.70602	2.774000	0.95407	0.655000	0.94253	GCA		0.483	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				A	113459692	G	A	113459692	3	1	745	1	0	0	0	0	1	0	0	0	9991	1203	42	2	592	2	MUSK	9	113459692	Missense_Mutation	SNP	G	TCGA-KO-8404-01A-11D-2310-10	94752853	113459692	27753739	64	43618											
STAM	8027	broad.mit.edu	37	10	17756602	17756603	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr10:17756602_17756603insC	ENST00000377524.3	+	14	1661_1662	c.1446_1447insC	c.(1447-1449)cctfs	p.P483fs	STAM_ENST00000540523.1_Frame_Shift_Ins_p.P372fs	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	483					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						TATATAGTCCTCCTCCTGCCGC	0.47																																																0																																										SO:0001589	frameshift_variant	8027			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.1448dupC	10.37:g.17756604_17756604dupC	ENSP00000366746:p.Pro483fs		B0YJ99|D3DRU5|Q8N6D9	Frame_Shift_Ins	INS	ENST00000377524.3	37	CCDS7122.1																																																																																				0.47	STAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047039.1	NM_003473		C	17756603	-	C	17756602	7	5	745	1	0	1	1	0	0	0	0	0	15253	1538	54	0	1500	0	STAM	10	17756602	Frame_Shift_Ins	INS	-	TCGA-KO-8404-01A-11D-2310-10		17756602	117778145	65	43619											
MYO3A	53904	mdanderson.org	37	10	26286159	26286159	+	Silent	SNP	G	G	T	rs12257119	byFrequency	TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr10:26286159G>T	ENST00000265944.5	+	6	646	c.480G>T	c.(478-480)acG>acT	p.T160T	MYO3A_ENST00000543632.1_Silent_p.T160T|MYO3A_ENST00000376301.1_Silent_p.T160T|MYO3A_ENST00000376302.1_Silent_p.T160T	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	160	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						TATTGACCACGGAAGGTGGAG	0.318													T|||	458	0.0914537	0.2526	0.0548	5008	,	,		20309	0.004		0.0626	False		,,,				2504	0.0194															0								T		956,3450	734.1+/-410.5	95,766,1342	84	77	79		480	-4.3	0.7	10	dbSNP_120	79	469,8123	795.6+/-407.5	17,435,3844	no	coding-synonymous	MYO3A	NM_017433.4		112,1201,5186	TT,TG,GG		5.4586,21.6977,10.9632		160/1617	26286159	1425,11573	2203	4296	6499	SO:0001819	synonymous_variant	53904			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.480G>T	10.37:g.26286159G>T			Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Silent	SNP	ENST00000265944.5	37	CCDS7148.1																																																																																				0.318	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		T	26286159	G	T	26286159	2	4	745	1	0	0	0	0	0	0	0	1	10078	1103	39	4		4	MYO3A	10	26286159	Silent	SNP	G	TCGA-KO-8404-01A-11D-2310-10	8529557	26286159	109248588	66	43620											
MUC6	4588	mdanderson.org	37	11	1016645	1016645	+	Silent	SNP	G	G	C			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr11:1016645G>C	ENST00000421673.2	-	31	6206	c.6156C>G	c.(6154-6156)ctC>ctG	p.L2052L		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2052	Thr-rich.				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)		CTGTGGCCTTGAGCGTTGTTG	0.562																																																0													466	446	453					11																	1016645		2199	4293	6492	SO:0001819	synonymous_variant	4588			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.6156C>G	11.37:g.1016645G>C			O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	CCDS44513.1																																																																																				0.562	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		C	1016645	G	C	1016645	2	2	745	1	0	0	0	0	0	0	0	1	9982	1277	45	4		4	MUC6	11	1016645	Silent	SNP	G	TCGA-KO-8404-01A-11D-2310-10		1016645	133989871	67	43621											
MUC6	4588	mdanderson.org	37	11	1017200	1017200	+	Silent	SNP	G	G	C			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr11:1017200G>C	ENST00000421673.2	-	31	5651	c.5601C>G	c.(5599-5601)gcC>gcG	p.A1867A		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1867	Approximate repeats.|Thr-rich.				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)		AGTGGATGGAGGCAGAAGTGG	0.572																																																0													424	405	411					11																	1017200		2199	4285	6484	SO:0001819	synonymous_variant	4588			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.5601C>G	11.37:g.1017200G>C			O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	CCDS44513.1																																																																																				0.572	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		C	1017200	G	C	1017200	2	2	745	1	0	0	0	0	0	0	0	1	9982	987	35	4		4	MUC6	11	1017200	Silent	SNP	G	TCGA-KO-8404-01A-11D-2310-10	555	1017200	133989316	68	43622											
KRTAP5-1	387264	mdanderson.org	37	11	1605979	1605979	+	Silent	SNP	A	A	G	rs59646474		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr11:1605979A>G	ENST00000382171.2	-	1	534	c.501T>C	c.(499-501)tgT>tgC	p.C167C	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	167	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)		CACAAGAACCACAGGCCCCCT	0.657																																																0													59	74	69					11																	1605979		2202	4299	6501	SO:0001819	synonymous_variant	387264			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.501T>C	11.37:g.1605979A>G				Silent	SNP	ENST00000382171.2	37	CCDS31330.1																																																																																				0.657	KRTAP5-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127922.1	NM_001005922		G	1605979	A	G	1605979	2	3	745	1	0	0	0	0	0	0	0	1	8560	157	6	3		3	KRTAP5-1	11	1605979	Silent	SNP	A	TCGA-KO-8404-01A-11D-2310-10	588779	1605979	133400537	69	43623											
OR51M1	390059	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	11	5410780	5410780	+	Missense_Mutation	SNP	T	T	A			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr11:5410780T>A	ENST00000328611.3	+	1	174	c.152T>A	c.(151-153)aTc>aAc	p.I51N	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001004756.2	NP_001004756.2	Q9H341	O51M1_HUMAN	olfactory receptor, family 51, subfamily M, member 1	51					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)		ATGGTTGCCATCTCAGGCAAT	0.448																																																0													172	159	163					11																	5410780		1966	4154	6120	SO:0001583	missense	390059			BK004382	CCDS53596.1	11p15.4	2012-08-09			ENSG00000184698	ENSG00000184698		"GPCR / Class A : Olfactory receptors"	14847	protein-coding gene	gene with protein product							Standard	NM_001004756		Approved		uc010qzc.2	Q9H341	OTTHUMG00000066680	ENST00000328611.3:c.152T>A	11.37:g.5410780T>A	ENSP00000333196:p.Ile51Asn		Q6IF80	Missense_Mutation	SNP	ENST00000328611.3	37	CCDS53596.1	.	.	.	.	.	.	.	.	.	.	T	13.98	2.397591	0.42512	.	.	ENSG00000184698	ENST00000328611	T	0.00500	6.96	5.01	5.01	0.66863	.	0.000000	0.34411	U	0.003981	T	0.02342	0.0072	M	0.93062	3.375	0.31105	N	0.710601	D	0.64830	0.994	D	0.64042	0.921	T	0.00888	-1.1526	10	0.87932	D	0	.	13.6825	0.62493	0.0:0.0:0.0:1.0	.	40	Q9H341	O51M1_HUMAN	N	51	ENSP00000333196:I51N	ENSP00000333196:I51N	I	+	2	0	OR51M1	5367356	0.827000	0.29292	0.824000	0.32777	0.016000	0.09150	5.564000	0.67359	2.101000	0.63845	0.528000	0.53228	ATC		0.448	OR51M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142981.1	NM_001004756		A	5410780	T	A	5410780	3	1	745	1	0	0	0	0	1	0	0	0	11105	1435	50	5	154	5	OR51M1	11	5410780	Missense_Mutation	SNP	T	TCGA-KO-8404-01A-11D-2310-10	3804801	5410780	129595736	70	43624											
OR56A1	120796	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	11	6048328	6048328	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr11:6048328T>C	ENST00000316650.5	-	1	643	c.607A>G	c.(607-609)Aga>Gga	p.R203G		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	203						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGTAGATTCTGTTAAGGGTG	0.448																																																0													66	65	65					11																	6048328		2201	4296	6497	SO:0001583	missense	120796			AB065821	CCDS31405.1	11p15.4	2012-08-09			ENSG00000180934	ENSG00000180934		"GPCR / Class A : Olfactory receptors"	14781	protein-coding gene	gene with protein product							Standard	NM_001001917		Approved		uc010qzw.2	Q8NGH5	OTTHUMG00000165377	ENST00000316650.5:c.607A>G	11.37:g.6048328T>C	ENSP00000321246:p.Arg203Gly		B2RNI2|Q6IFL0	Missense_Mutation	SNP	ENST00000316650.5	37	CCDS31405.1	.	.	.	.	.	.	.	.	.	.	T	4.164	0.028925	0.08054	.	.	ENSG00000180934	ENST00000316650	T	0.00115	8.71	4.27	-1.51	0.08664	GPCR, rhodopsin-like superfamily (1);	0.169443	0.27961	N	0.017146	T	0.00210	0.0006	M	0.71036	2.16	0.09310	N	1	P	0.38250	0.624	P	0.48488	0.579	T	0.41662	-0.9496	10	0.33940	T	0.23	.	1.4257	0.02322	0.256:0.0839:0.2613:0.3987	.	203	Q8NGH5	O56A1_HUMAN	G	203	ENSP00000321246:R203G	ENSP00000321246:R203G	R	-	1	2	OR56A1	6004904	0.000000	0.05858	0.095000	0.20976	0.003000	0.03518	-0.319000	0.08039	-0.042000	0.13535	-0.336000	0.08194	AGA		0.448	OR56A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383757.1	NM_001001917		C	6048328	T	C	6048328	3	2	745	1	0	0	0	0	1	0	0	0	11135	1588	55	3	353	3	OR56A1	11	6048328	Missense_Mutation	SNP	T	TCGA-KO-8404-01A-11D-2310-10	637548	6048328	128958188	71	43625											
OR2D3	120775	ucsc.edu	37	11	6942589	6942589	+	Silent	SNP	C	C	T	rs59264610|rs202205015	byFrequency	TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr11:6942589C>T	ENST00000317834.3	+	1	385	c.357C>T	c.(355-357)gtC>gtT	p.V119V		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	119						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(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGATAATTGTCTTTCTTCTGG	0.448																																																0													137	143	141					11																	6942589		2191	4289	6480	SO:0001819	synonymous_variant	120775			BK004294	CCDS31417.1	11p15.4	2012-08-09			ENSG00000178358	ENSG00000178358		"GPCR / Class A : Olfactory receptors"	15146	protein-coding gene	gene with protein product							Standard	NM_001004684		Approved		uc010rav.2	Q8NGH3	OTTHUMG00000165742	ENST00000317834.3:c.357C>T	11.37:g.6942589C>T			B2RP06|Q6IFG8|Q96R51	Silent	SNP	ENST00000317834.3	37	CCDS31417.1																																																																																				0.448	OR2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385987.1	NM_001004684		T	6942589	C	T	6942589	2	4	745	1	0	0	0	0	0	0	0	1	10997	900	32	2		2	OR2D3	11	6942589	Silent	SNP	C	TCGA-KO-8404-01A-11D-2310-10	894261	6942589	128063927	72	43626											
PTPN5	84867	broad.mit.edu;mdanderson.org	37	11	18755149	18755149	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr11:18755149T>C	ENST00000358540.2	-	10	1464	c.1034A>G	c.(1033-1035)gAc>gGc	p.D345G	PTPN5_ENST00000396167.2_Missense_Mutation_p.D313G|PTPN5_ENST00000477854.1_Missense_Mutation_p.D149G|PTPN5_ENST00000396170.1_Missense_Mutation_p.D313G|PTPN5_ENST00000396166.3_5'Flank|PTPN5_ENST00000396168.1_Missense_Mutation_p.D321G|RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000396171.4_Missense_Mutation_p.D345G	NM_006906.1	NP_008837.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	345	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						GTCGTCAGGGTCTGGTGAGGT	0.592																																																0													183	169	174					11																	18755149		2199	4293	6492	SO:0001583	missense	84867			BC064807	CCDS7845.1, CCDS41626.1, CCDS60746.1	11p15.1	2011-06-09			ENSG00000110786	ENSG00000110786		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9657	protein-coding gene	gene with protein product		176879				1714595	Standard	NM_001278236		Approved	STEP, PTPSTEP	uc001mpc.4	P54829	OTTHUMG00000134304	ENST00000358540.2:c.1034A>G	11.37:g.18755149T>C	ENSP00000351342:p.Asp345Gly		B3KXG7|B7Z386|B7ZAF5|D3DQY7|Q6P1Z2|Q8N2A1|Q8NDP8	Missense_Mutation	SNP	ENST00000358540.2	37	CCDS7845.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.187674	0.78789	.	.	ENSG00000110786	ENST00000477854;ENST00000358540;ENST00000396170;ENST00000396171;ENST00000396167;ENST00000396168	D;D;D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65;-1.65;-1.65	5.67	5.67	0.87782	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.058671	0.64402	D	0.000003	T	0.79604	0.4474	N	0.17345	0.48	0.53688	D	0.999974	B;P	0.49961	0.012;0.93	B;P	0.51101	0.035;0.659	T	0.81395	-0.0952	10	0.45353	T	0.12	.	15.9204	0.79562	0.0:0.0:0.0:1.0	.	345;313	P54829;B3KXG7	PTN5_HUMAN;.	G	149;345;313;345;313;321	ENSP00000435056:D149G;ENSP00000351342:D345G;ENSP00000379473:D313G;ENSP00000379474:D345G;ENSP00000379470:D313G;ENSP00000379471:D321G	ENSP00000351342:D345G	D	-	2	0	PTPN5	18711725	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	2.457000	0.45005	2.164000	0.68074	0.533000	0.62120	GAC		0.592	PTPN5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259196.2	NM_001039970		C	18755149	T	C	18755149	3	2	745	1	0	0	0	0	1	0	0	0	12797	1667	58	3	687	3	PTPN5	11	18755149	Missense_Mutation	SNP	T	TCGA-KO-8404-01A-11D-2310-10	11812560	18755149	116251367	73	43627											
DGKZ	8525	broad.mit.edu	37	11	46398729	46398730	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr11:46398729_46398730delCT	ENST00000454345.1	+	26	2998_2999	c.2873_2874delCT	c.(2872-2874)cctfs	p.P958fs	MIR4688_ENST00000577966.1_RNA|DGKZ_ENST00000527911.1_Frame_Shift_Del_p.P770fs|DGKZ_ENST00000528615.1_Frame_Shift_Del_p.P548fs|DGKZ_ENST00000318201.8_Frame_Shift_Del_p.P747fs|DGKZ_ENST00000532868.2_Frame_Shift_Del_p.P774fs|DGKZ_ENST00000421244.2_Frame_Shift_Del_p.P770fs|DGKZ_ENST00000343674.6_Frame_Shift_Del_p.P786fs|DGKZ_ENST00000395574.3_Frame_Shift_Del_p.P736fs|DGKZ_ENST00000543978.1_Frame_Shift_Del_p.P122fs|DGKZ_ENST00000456247.2_Frame_Shift_Del_p.P769fs	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	958					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)		CCCACTTCCCCTCTCCCCACCT	0.624																																																0																																										SO:0001589	frameshift_variant	8525			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.2873_2874delCT	11.37:g.46398731_46398732delCT	ENSP00000412178:p.Pro958fs		B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Frame_Shift_Del	DEL	ENST00000454345.1	37	CCDS41640.1																																																																																				0.624	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389772.1	NM_001105540		-	46398730	CT	-	46398729	7	5	745	1	0	1	0	1	0	0	0	0	4476	681	24	0	3418	0	DGKZ	11	46398729	Frame_Shift_Del	DEL	CT	TCGA-KO-8404-01A-11D-2310-10	27643580	46398729	88607787	74	43628											
OR1S2	219958	mdanderson.org	37	11	57970967	57970967	+	Silent	SNP	G	G	A	rs138762515		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr11:57970967G>A	ENST00000302592.6	-	1	686	c.687C>T	c.(685-687)ttC>ttT	p.F229F		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	229						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F229F(1)		endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				AGACATAGGAGAAGAAGATGA	0.438																																																1	Substitution - coding silent(1)	kidney(1)											154	129	138					11																	57970967		2201	4296	6497	SO:0001819	synonymous_variant	219958			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.687C>T	11.37:g.57970967G>A			Q6IFG5|Q96R85	Silent	SNP	ENST00000302592.6	37	CCDS31545.1																																																																																				0.438	OR1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394703.2	NM_001004459		A	57970967	G	A	57970967	2	1	745	1	0	0	0	0	0	0	0	1	10975	933	33	2		2	OR1S2	11	57970967	Silent	SNP	G	TCGA-KO-8404-01A-11D-2310-10	11572238	57970967	77035549	75	43629											
OR1S1	219959	broad.mit.edu;mdanderson.org	37	11	57982580	57982580	+	Missense_Mutation	SNP	G	G	A	rs147498041		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr11:57982580G>A	ENST00000309433.6	+	1	364	c.364G>A	c.(364-366)Gtc>Atc	p.V122I		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, 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)|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)				TGTGTTTGTCGTCATTGACAA	0.453													G|||	1	0.000199681	0.0	0.0	5008	,	,		22244	0.0		0.0	False		,,,				2504	0.001															0								G	ILE/VAL	1,4401	2.1+/-5.4	0,1,2200	182	171	175		364	3.5	0.3	11	dbSNP_134	175	2,8590	2.2+/-6.3	0,2,4294	no	missense	OR1S1	NM_001004458.1	29	0,3,6494	AA,AG,GG		0.0233,0.0227,0.0231	possibly-damaging	122/326	57982580	3,12991	2201	4296	6497	SO:0001583	missense	219959			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.364G>A	11.37:g.57982580G>A	ENSP00000311688:p.Val122Ile		Q6IFG3	Missense_Mutation	SNP	ENST00000309433.6	37	CCDS31546.1	.	.	.	.	.	.	.	.	.	.	G	0.524	-0.860938	0.02610	2.27E-4	2.33E-4	ENSG00000172774	ENST00000309433	T	0.03004	4.08	3.45	3.45	0.39498	GPCR, rhodopsin-like superfamily (1);	0.546164	0.15053	N	0.283208	T	0.02418	0.0074	N	0.10916	0.065	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.45440	-0.9261	10	0.22109	T	0.4	.	11.1634	0.48528	0.0:0.0:0.8158:0.1842	.	122	Q8NH92	OR1S1_HUMAN	I	122	ENSP00000311688:V122I	ENSP00000311688:V122I	V	+	1	0	OR1S1	57739156	0.000000	0.05858	0.349000	0.25694	0.286000	0.27126	-0.525000	0.06214	1.770000	0.52166	0.479000	0.44913	GTC		0.453	OR1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394705.1	NM_001004458		A	57982580	G	A	57982580	3	1	745	1	0	0	0	0	1	0	0	0	10974	1145	40	1	366	1	OR1S1	11	57982580	Missense_Mutation	SNP	G	TCGA-KO-8404-01A-11D-2310-10	11613	57982580	77023936	76	43630											
FRMD8	83786	broad.mit.edu	37	11	65161559	65161560	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr11:65161559_65161560insG	ENST00000317568.5	+	5	566_567	c.403_404insG	c.(403-405)cggfs	p.R135fs	FRMD8_ENST00000355991.5_Frame_Shift_Ins_p.R79fs|FRMD8_ENST00000416776.2_Frame_Shift_Ins_p.R101fs	NM_031904.3	NP_114110.1	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	135	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoskeleton (GO:0005856)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1)	17						CCCAAAGCGGCGGGAGCTCCAG	0.658																																																0																																										SO:0001589	frameshift_variant	83786			AK074850	CCDS8102.1, CCDS73320.1	11q13.1	2007-08-14			ENSG00000126391	ENSG00000126391			25462	protein-coding gene	gene with protein product						12477932	Standard	NM_031904		Approved	FLJ90369, FKSG44	uc001odu.4	Q9BZ67	OTTHUMG00000166275	ENST00000317568.5:c.406dupG	11.37:g.65161562_65161562dupG	ENSP00000319726:p.Arg135fs		B4E2P1|Q86V56|Q8NCB5	Frame_Shift_Ins	INS	ENST00000317568.5	37	CCDS8102.1																																																																																				0.658	FRMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388833.1	NM_031904		G	65161560	-	G	65161559	7	5	745	1	0	1	1	0	0	0	0	0	6058	759	27	0	417	0	FRMD8	11	65161559	Frame_Shift_Ins	INS	-	TCGA-KO-8404-01A-11D-2310-10	7178979	65161559	69844957	77	43631											
CATSPER1	117144	broad.mit.edu	37	11	65792709	65792709	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr11:65792709delA	ENST00000312106.5	-	1	1279	c.1142delT	c.(1141-1143)gtcfs	p.V381fs		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	381					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						CTGGGTATGGACTTTTTTGGA	0.537																																																0													134	117	123					11																	65792709		2201	4296	6497	SO:0001589	frameshift_variant	117144			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.1142delT	11.37:g.65792709delA	ENSP00000309052:p.Val381fs		Q96P76	Frame_Shift_Del	DEL	ENST00000312106.5	37	CCDS8127.1																																																																																				0.537	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	NM_053054		-	65792709	A	-	65792709	7	5	745	1	0	1	0	1	0	0	0	0	2689	275	10	0	1248	0	CATSPER1	11	65792709	Frame_Shift_Del	DEL	A	TCGA-KO-8404-01A-11D-2310-10	631150	65792709	69213807	78	43632											
C11orf80	79703	broad.mit.edu;hgsc.bcm.edu	37	11	66555695	66555696	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr11:66555695_66555696insA	ENST00000360962.4	+	5	595_596	c.588_589insA	c.(589-591)tctfs	p.S197fs	C11orf80_ENST00000540737.1_Frame_Shift_Ins_p.S31fs|C11orf80_ENST00000527634.1_Intron|C11orf80_ENST00000346672.4_Frame_Shift_Ins_p.S42fs|C11orf80_ENST00000527368.1_3'UTR|C11orf80_ENST00000525449.2_Frame_Shift_Ins_p.S42fs|C11orf80_ENST00000532565.2_5'UTR	NM_024650.3	NP_078926.3	Q8N6T0	CK080_HUMAN	chromosome 11 open reading frame 80	197										autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						AAGGCAGCTATTCTCAGGATAT	0.401																																																0																																										SO:0001589	frameshift_variant	79703					11q13.2	2012-05-30			ENSG00000173715	ENSG00000173715			26197	protein-coding gene	gene with protein product						18160775	Standard	NM_024650		Approved	FLJ22531	uc021qmd.1	Q8N6T0	OTTHUMG00000167164	Exception_encountered	11.37:g.66555695_66555696insA	ENSP00000354227:p.Ser197fs		Q9H677	Frame_Shift_Ins	INS	ENST00000360962.4	37	CCDS53664.1																																																																																				0.401	C11orf80-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_024650		A	66555696	-	A	66555695	7	5	745	1	0	1	1	0	0	0	0	0	1666	1500	52	0	606	0	C11orf80	11	66555695	Frame_Shift_Ins	INS	-	TCGA-KO-8404-01A-11D-2310-10	762986	66555695	68450821	79	43633	429	2									
C11orf80	79703	bcgsc.ca	37	11	66555696	66555697	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr11:66555696_66555697insA	ENST00000360962.4	+	5	596_597	c.589_590insA	c.(589-591)tctfs	p.S197fs	C11orf80_ENST00000540737.1_Frame_Shift_Ins_p.S31fs|C11orf80_ENST00000527634.1_Intron|C11orf80_ENST00000346672.4_Frame_Shift_Ins_p.S42fs|C11orf80_ENST00000527368.1_3'UTR|C11orf80_ENST00000525449.2_Frame_Shift_Ins_p.S42fs|C11orf80_ENST00000532565.2_5'UTR	NM_024650.3	NP_078926.3	Q8N6T0	CK080_HUMAN	chromosome 11 open reading frame 80	197										autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						AGGCAGCTATTCTCAGGATATG	0.396																																																0																																										SO:0001589	frameshift_variant	79703					11q13.2	2012-05-30			ENSG00000173715	ENSG00000173715			26197	protein-coding gene	gene with protein product						18160775	Standard	NM_024650		Approved	FLJ22531	uc021qmd.1	Q8N6T0	OTTHUMG00000167164	Exception_encountered	11.37:g.66555696_66555697insA	ENSP00000354227:p.Ser197fs		Q9H677	Frame_Shift_Ins	INS	ENST00000360962.4	37	CCDS53664.1																																																																																				0.396	C11orf80-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_024650		A	66555697	-	A	66555696	7	5	745	1	0	1	1	0	0	0	0	0	1666	1783	62	0	607	0	C11orf80	11	66555696	Frame_Shift_Ins	INS	-	TCGA-KO-8404-01A-11D-2310-10	1	66555696	68450820	80	43634	429	2									
KRTAP5-7	440050	mdanderson.org	37	11	71238645	71238645	+	Missense_Mutation	SNP	C	C	A	rs201904441	byFrequency	TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr11:71238645C>A	ENST00000398536.4	+	1	333	c.299C>A	c.(298-300)cCc>cAc	p.P100H		NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	100	7 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						tgctataagccctgctgctgc	0.632													c|||	3	0.000599042	0.0023	0.0	5008	,	,		14152	0.0		0.0	False		,,,				2504	0.0															0													69	88	82					11																	71238645		2199	4292	6491	SO:0001583	missense	440050			AB126076	CCDS41682.1	11q13.4	2008-02-05			ENSG00000244411	ENSG00000244411		"Keratin associated proteins"	23602	protein-coding gene	gene with protein product						15144888	Standard	NM_001012503		Approved	KRTAP5.7, KRTAP5-3	uc001oqq.1	Q6L8G8	OTTHUMG00000057570	ENST00000398536.4:c.299C>A	11.37:g.71238645C>A	ENSP00000417330:p.Pro100His		B2RNM3|Q701N5	Missense_Mutation	SNP	ENST00000398536.4	37	CCDS41682.1	.	.	.	.	.	.	.	.	.	.	N	8.998	0.979405	0.18812	.	.	ENSG00000244411	ENST00000398536	T	0.01397	4.94	1.34	1.34	0.21922	.	.	.	.	.	T	0.04137	0.0115	M	0.91510	3.215	0.21579	N	0.999634	D	0.65815	0.995	P	0.46758	0.526	T	0.32534	-0.9903	9	0.51188	T	0.08	.	3.7081	0.08408	0.0:0.7549:0.0:0.2451	.	100	Q6L8G8	KRA57_HUMAN	H	100	ENSP00000417330:P100H	ENSP00000417330:P100H	P	+	2	0	KRTAP5-7	70916293	0.012000	0.17670	0.672000	0.29872	0.043000	0.13939	-0.334000	0.07883	1.080000	0.41073	0.281000	0.19383	CCC		0.632	KRTAP5-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127953.1			A	71238645	C	A	71238645	3	1	745	1	0	0	0	0	1	0	0	0	8568	623	22	4	301	4	KRTAP5-7	11	71238645	Missense_Mutation	SNP	C	TCGA-KO-8404-01A-11D-2310-10	4682949	71238645	63767871	81	43635											
KRTAP5-7	440050	mdanderson.org	37	11	71238685	71238685	+	Silent	SNP	G	G	A	rs568152352	byFrequency	TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr11:71238685G>A	ENST00000398536.4	+	1	373	c.339G>A	c.(337-339)caG>caA	p.Q113Q		NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	113	7 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						cctgctgccagtccagctgct	0.617													g|||	3	0.000599042	0.0023	0.0	5008	,	,		19208	0.0		0.0	False		,,,				2504	0.0															0																																										SO:0001819	synonymous_variant	440050			AB126076	CCDS41682.1	11q13.4	2008-02-05			ENSG00000244411	ENSG00000244411		"Keratin associated proteins"	23602	protein-coding gene	gene with protein product						15144888	Standard	NM_001012503		Approved	KRTAP5.7, KRTAP5-3	uc001oqq.1	Q6L8G8	OTTHUMG00000057570	ENST00000398536.4:c.339G>A	11.37:g.71238685G>A			B2RNM3|Q701N5	Silent	SNP	ENST00000398536.4	37	CCDS41682.1																																																																																				0.617	KRTAP5-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127953.1			A	71238685	G	A	71238685	2	1	745	1	0	0	0	0	0	0	0	1	8568	1020	36	2		2	KRTAP5-7	11	71238685	Silent	SNP	G	TCGA-KO-8404-01A-11D-2310-10	40	71238685	63767831	82	43636											
OR8B2	26595	mdanderson.org	37	11	124252982	124252982	+	Silent	SNP	C	C	T	rs71491825		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr11:124252982C>T	ENST00000375013.2	-	1	276	c.258G>A	c.(256-258)gtG>gtA	p.V86V		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	86						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TCTTTTTTGACACAAAGTTCA	0.383													c|||	1	0.000199681	0.0	0.0	5008	,	,		23366	0.0		0.001	False		,,,				2504	0.0															0													138	133	135					11																	124252982		2201	4299	6500	SO:0001819	synonymous_variant	26595			AB065826	CCDS31708.1	11q24.1	2012-08-09			ENSG00000204293	ENSG00000204293		"GPCR / Class A : Olfactory receptors"	8471	protein-coding gene	gene with protein product							Standard	XM_005271500		Approved		uc010sai.2	Q96RD0	OTTHUMG00000165982	ENST00000375013.2:c.258G>A	11.37:g.124252982C>T			Q8NGH2	Silent	SNP	ENST00000375013.2	37	CCDS31708.1																																																																																				0.383	OR8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387290.1	NM_001005468		T	124252982	C	T	124252982	2	4	745	1	0	0	0	0	0	0	0	1	11229	465	17	2		2	OR8B2	11	124252982	Silent	SNP	C	TCGA-KO-8404-01A-11D-2310-10	53014297	124252982	10753534	83	43637											
NANOG	79923	mdanderson.org	37	12	7947571	7947571	+	Silent	SNP	C	C	T	rs4012937		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr12:7947571C>T	ENST00000229307.4	+	4	1017	c.798C>T	c.(796-798)gcC>gcT	p.A266A	NANOG_ENST00000526286.1_Silent_p.A250A	NM_024865.2	NP_079141.2	Q9H9S0	NANOG_HUMAN	Nanog homeobox	266	Sufficient for strong transactivation activity. {ECO:0000250}.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|embryo development (GO:0009790)|embryonic pattern specification (GO:0009880)|endodermal cell fate specification (GO:0001714)|gonad development (GO:0008406)|mesodermal cell fate commitment (GO:0001710)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell fate commitment (GO:0010454)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell differentiation (GO:0045595)|regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|response to retinoic acid (GO:0032526)|somatic stem cell maintenance (GO:0035019)|stem cell division (GO:0017145)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14				Kidney(36;0.0872)		TGGAGGCTGCCTTGGAAGCTG	0.473																																																0													6	7	7					12																	7947571		907	2018	2925	SO:0001819	synonymous_variant	79923			AB093576	CCDS31736.1, CCDS73436.1	12p13.31	2011-06-20			ENSG00000111704	ENSG00000111704		"Homeoboxes / ANTP class : NKL subclass"	20857	protein-coding gene	gene with protein product		607937				12787505, 12787504	Standard	XM_005253484		Approved	FLJ12581, FLJ40451	uc009zfy.1	Q9H9S0		ENST00000229307.4:c.798C>T	12.37:g.7947571C>T			D3DUU4|Q2TTG0|Q6JZS5	Silent	SNP	ENST00000229307.4	37	CCDS31736.1																																																																																				0.473	NANOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387480.2	NM_024865		T	7947571	C	T	7947571	2	4	745	1	0	0	0	0	0	0	0	1	10152	668	24	2		2	NANOG	12	7947571	Silent	SNP	C	TCGA-KO-8404-01A-11D-2310-10		7947571	125904324	84	43638											
TAS2R10	50839	broad.mit.edu;mdanderson.org	37	12	10978222	10978222	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr12:10978222T>C	ENST00000240619.2	-	1	735	c.647A>G	c.(646-648)gAc>gGc	p.D216G		NM_023921.1	NP_076410.1	Q9NYW0	T2R10_HUMAN	taste receptor, type 2, member 10	216					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)			breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TGTGTTGGAGTCTCTCAATCC	0.348																																																0													110	107	108					12																	10978222		2203	4300	6503	SO:0001583	missense	50839			AF227136	CCDS8634.1	12p13	2012-08-22			ENSG00000121318	ENSG00000121318		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14918	protein-coding gene	gene with protein product		604791				10761934, 10766242	Standard	NM_023921		Approved	T2R10, TRB2	uc001qyy.1	Q9NYW0	OTTHUMG00000168508	ENST00000240619.2:c.647A>G	12.37:g.10978222T>C	ENSP00000240619:p.Asp216Gly		Q3MIM9|Q6NTD9	Missense_Mutation	SNP	ENST00000240619.2	37	CCDS8634.1	.	.	.	.	.	.	.	.	.	.	T	16.60	3.167375	0.57476	.	.	ENSG00000121318	ENST00000240619	T	0.37411	1.2	4.81	4.81	0.61882	.	0.445268	0.21042	N	0.081146	T	0.69061	0.3069	H	0.94264	3.515	0.21719	N	0.999578	D	0.76494	0.999	D	0.83275	0.996	T	0.67193	-0.5732	10	0.87932	D	0	.	12.5979	0.56481	0.0:0.0:0.0:1.0	.	216	Q9NYW0	T2R10_HUMAN	G	216	ENSP00000240619:D216G	ENSP00000240619:D216G	D	-	2	0	TAS2R10	10869489	0.010000	0.17322	0.049000	0.19019	0.012000	0.07955	1.853000	0.39358	1.930000	0.55929	0.477000	0.44152	GAC		0.348	TAS2R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399934.1			C	10978222	T	C	10978222	3	2	745	1	0	0	0	0	1	0	0	0	15571	1667	58	3	280	3	TAS2R10	12	10978222	Missense_Mutation	SNP	T	TCGA-KO-8404-01A-11D-2310-10	3030651	10978222	122873673	85	43639											
TAS2R30	259293	mdanderson.org	37	12	11286164	11286164	+	Missense_Mutation	SNP	G	G	A	rs200661425		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr12:11286164G>A	ENST00000539585.1	-	1	1079	c.680C>T	c.(679-681)gCt>gTt	p.A227V	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_001097643.1	NP_001091112.1	P59541	T2R30_HUMAN	taste receptor, type 2, member 30	227					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)	p.A227V(2)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						AGTTTGCAAAGCTTTTATGTG	0.418																																																2	Substitution - Missense(2)	autonomic_ganglia(1)|skin(1)											198	208	205					12																	11286164		2203	4300	6503	SO:0001583	missense	259293			AX097746, AF494233	CCDS53750.1	12p13.2	2012-08-22				ENSG00000256188		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	19112	protein-coding gene	gene with protein product		613963	"taste receptor, type 2, member 47"	TAS2R47			Standard	NM_001097643		Approved	T2R30	uc009zhs.1	P59541		ENST00000539585.1:c.680C>T	12.37:g.11286164G>A	ENSP00000444736:p.Ala227Val		Q645X7	Missense_Mutation	SNP	ENST00000539585.1	37	CCDS53750.1	.	.	.	.	.	.	.	.	.	.	-	13.13	2.144355	0.37825	.	.	ENSG00000256188	ENST00000539585	T	0.01422	4.91	2.6	2.6	0.31112	.	.	.	.	.	T	0.03651	0.0104	M	0.70595	2.14	0.09310	N	1	P	0.40250	0.709	P	0.46975	0.533	T	0.27938	-1.0059	9	0.46703	T	0.11	.	8.7017	0.34329	0.0:0.0:1.0:0.0	.	227	P59541	T2R30_HUMAN	V	227	ENSP00000444736:A227V	ENSP00000444736:A227V	A	-	2	0	TAS2R30	11177431	0.677000	0.27577	0.024000	0.17045	0.426000	0.31534	2.697000	0.47060	1.454000	0.47793	0.313000	0.20887	GCT		0.418	TAS2R30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400238.1	NM_001097643		A	11286164	G	A	11286164	3	1	745	1	0	0	0	0	1	0	0	0	15578	971	34	2	283	2	TAS2R30	12	11286164	Missense_Mutation	SNP	G	TCGA-KO-8404-01A-11D-2310-10	307942	11286164	122565731	86	43640											
C12orf77	196415	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	12	25147251	25147251	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr12:25147251C>T	ENST00000549828.1	-	4	622	c.418G>A	c.(418-420)Gct>Act	p.A140T		NM_001101339.1	NP_001094809.1	C9JDV5	CL097_HUMAN	chromosome 12 open reading frame 77	140										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						ATTGTCATAGCATGATGTAGG	0.363																																																0													76	67	69					12																	25147251		1815	4071	5886	SO:0001583	missense	196415			BC046192	CCDS44846.1	12p12.1	2009-09-30			ENSG00000226397	ENSG00000226397			27282	protein-coding gene	gene with protein product						12477932	Standard	NM_001101339		Approved		uc001rgf.3	C9JDV5	OTTHUMG00000170185	ENST00000549828.1:c.418G>A	12.37:g.25147251C>T	ENSP00000447146:p.Ala140Thr			Missense_Mutation	SNP	ENST00000549828.1	37	CCDS44846.1	.	.	.	.	.	.	.	.	.	.	C	1.748	-0.489875	0.04322	.	.	ENSG00000226397	ENST00000549828	T	0.55052	0.54	0.225	0.225	0.15325	.	.	.	.	.	T	0.39627	0.1085	N	0.08118	0	0.09310	N	1	P	0.46395	0.877	P	0.51866	0.682	T	0.29579	-1.0007	8	0.87932	D	0	.	.	.	.	.	140	C9JDV5	CL097_HUMAN	T	140	ENSP00000447146:A140T	ENSP00000447146:A140T	A	-	1	0	C12orf77	25038518	0.002000	0.14202	0.017000	0.16124	0.026000	0.11368	0.265000	0.18515	0.300000	0.22699	0.305000	0.20034	GCT		0.363	C12orf77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407827.1	NM_001101339		T	25147251	C	T	25147251	3	4	745	1	0	0	0	0	1	0	0	0	1718	710	25	2	23	2	C12orf77	12	25147251	Missense_Mutation	SNP	C	TCGA-KO-8404-01A-11D-2310-10	13861087	25147251	108704644	87	43641											
DDX11	1663	mdanderson.org	37	12	31242981	31242981	+	Silent	SNP	C	C	A	rs3892690		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr12:31242981C>A	ENST00000407793.2	+	9	1293	c.1042C>A	c.(1042-1044)Cgg>Agg	p.R348R	DDX11_ENST00000545668.1_Silent_p.R348R|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000542838.1_Silent_p.R348R|DDX11_ENST00000228264.6_Silent_p.R322R|DDX11_ENST00000350437.4_Silent_p.R348R	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	348	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GAAGGAGGCCCGGGCCTGTCC	0.647										Multiple Myeloma(12;0.14)																																						0													1	2	2					12																	31242981		1322	2876	4198	SO:0001819	synonymous_variant	1663			U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"DEAD-boxes"	2736	protein-coding gene	gene with protein product	"CHL1-like helicase homolog (S. cerevisiae)"	601150	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)", "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.1042C>A	12.37:g.31242981C>A			Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Silent	SNP	ENST00000407793.2	37	CCDS44856.1																																																																																				0.647	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653		A	31242981	C	A	31242981	2	1	745	1	0	0	0	0	0	0	0	1	4345	643	23	4		4	DDX11	12	31242981	Silent	SNP	C	TCGA-KO-8404-01A-11D-2310-10	6095730	31242981	102608914	88	43642											
FMNL3	91010	broad.mit.edu	37	12	50042932	50042932	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr12:50042932T>C	ENST00000293590.5	-	21	2628	c.2395A>G	c.(2395-2397)Acc>Gcc	p.T799A	FMNL3_ENST00000335154.5_Missense_Mutation_p.T799A|FMNL3_ENST00000550488.1_Missense_Mutation_p.T799A|FMNL3_ENST00000352151.5_Missense_Mutation_p.T748A			Q8IVF7	FMNL3_HUMAN	formin-like 3	799	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						GTGGACTTGGTATCCAGCAGC	0.572																																																0													124	134	131					12																	50042932		2105	4233	6338	SO:0001583	missense	91010			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.2395A>G	12.37:g.50042932T>C	ENSP00000293590:p.Thr799Ala		B0JZA7|Q6ZRJ1	Missense_Mutation	SNP	ENST00000293590.5	37		.	.	.	.	.	.	.	.	.	.	T	24.4	4.531648	0.85706	.	.	ENSG00000161791	ENST00000335154;ENST00000550488;ENST00000352151;ENST00000293590	T;T;T;T	0.21361	2.01;2.01;2.01;2.01	5.44	5.44	0.79542	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.50820	0.1638	M	0.85859	2.78	0.80722	D	1	D;D;D	0.69078	0.995;0.99;0.997	D;D;D	0.79108	0.941;0.98;0.992	T	0.57370	-0.7823	10	0.62326	D	0.03	.	14.7946	0.69868	0.0:0.0:0.0:1.0	.	748;799;799	Q8IVF7-2;Q8IVF7-3;Q8IVF7	.;.;FMNL3_HUMAN	A	799;799;748;799	ENSP00000335655:T799A;ENSP00000447479:T799A;ENSP00000344311:T748A;ENSP00000293590:T799A	ENSP00000293590:T799A	T	-	1	0	FMNL3	48329199	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.934000	0.87649	2.199000	0.70637	0.533000	0.62120	ACC		0.572	FMNL3-201	KNOWN	basic	protein_coding	protein_coding		NM_175736		C	50042932	T	C	50042932	3	2	745	1	0	0	0	0	1	0	0	0	5955	1638	57	3	712	3	FMNL3	12	50042932	Missense_Mutation	SNP	T	TCGA-KO-8404-01A-11D-2310-10	18799951	50042932	83808963	89	43643											
KRT3	3850	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	53189775	53189775	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr12:53189775C>T	ENST00000417996.2	-	1	126	c.52G>A	c.(52-54)Ggc>Agc	p.G18S	KRT3_ENST00000309505.3_Missense_Mutation_p.G18S	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	18	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						GCAGAGCGGCCGGAGAAACCC	0.622																																																0													26	33	31					12																	53189775		2202	4299	6501	SO:0001583	missense	3850				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.52G>A	12.37:g.53189775C>T	ENSP00000413479:p.Gly18Ser		A6NIS2|Q701L8	Missense_Mutation	SNP	ENST00000417996.2	37	CCDS44895.1	.	.	.	.	.	.	.	.	.	.	C	12.45	1.942917	0.34283	.	.	ENSG00000186442	ENST00000417996;ENST00000309505	T;T	0.80566	-1.39;-1.39	5.17	3.3	0.37823	.	0.000000	0.47852	D	0.000216	T	0.58935	0.2157	L	0.31526	0.94	0.25853	N	0.983919	P	0.42375	0.778	B	0.26864	0.074	T	0.51196	-0.8736	10	0.22109	T	0.4	.	6.36	0.21422	0.392:0.5193:0.0:0.0886	.	18	P12035	K2C3_HUMAN	S	18	ENSP00000413479:G18S;ENSP00000312206:G18S	ENSP00000312206:G18S	G	-	1	0	KRT3	51476042	0.001000	0.12720	0.323000	0.25347	0.947000	0.59692	0.061000	0.14366	0.651000	0.30788	0.561000	0.74099	GGC		0.622	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405930.1	NM_057088		T	53189775	C	T	53189775	3	4	745	1	0	0	0	0	1	0	0	0	8468	652	23	1	1870	1	KRT3	12	53189775	Missense_Mutation	SNP	C	TCGA-KO-8404-01A-11D-2310-10	3146843	53189775	80662120	90	43644											
NAB2	4665	mdanderson.org	37	12	57485373	57485373	+	Silent	SNP	G	G	T			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr12:57485373G>T	ENST00000300131.3	+	2	927	c.549G>T	c.(547-549)cgG>cgT	p.R183R	NAB2_ENST00000357680.4_Silent_p.R183R|NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000342556.6_Silent_p.R183R	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	183					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						GGGACCCCCGGATCTGGCCAG	0.667																																																0													24	27	26					12																	57485373		2202	4299	6501	SO:0001819	synonymous_variant	4665			BC065931	CCDS8930.1	12q13.3	2008-05-14				ENSG00000166886			7627	protein-coding gene	gene with protein product		602381				8668170, 8649813	Standard	XM_005268894		Approved	MADER	uc001smz.3	Q15742		ENST00000300131.3:c.549G>T	12.37:g.57485373G>T			B2RAK3|O76006|Q14797	Silent	SNP	ENST00000300131.3	37	CCDS8930.1																																																																																				0.667	NAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412222.1	NM_005967		T	57485373	G	T	57485373	2	4	745	1	0	0	0	0	0	0	0	1	10134	1161	41	4		4	NAB2	12	57485373	Silent	SNP	G	TCGA-KO-8404-01A-11D-2310-10	4295598	57485373	76366522	91	43645											
OSBPL8	114882	broad.mit.edu	37	12	76763581	76763582	+	Frame_Shift_Ins	INS	-	-	C	rs571718491		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr12:76763581_76763582insC	ENST00000261183.3	-	20	2554_2555	c.2075_2076insG	c.(2074-2076)cgafs	p.R692fs	OSBPL8_ENST00000393249.2_Frame_Shift_Ins_p.R650fs|OSBPL8_ENST00000393250.4_Frame_Shift_Ins_p.R650fs	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	692					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						CATTTATGGCTCGAGTTACCCG	0.366																																																0																																										SO:0001589	frameshift_variant	114882			AF392452	CCDS31862.1, CCDS41814.1	12q14	2013-01-10				ENSG00000091039		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16396	protein-coding gene	gene with protein product		606736				1735225, 17991739	Standard	NM_020841		Approved	OSBP10, ORP8, MST120, MSTP120	uc001sye.1	Q9BZF1		ENST00000261183.3:c.2076dupG	12.37:g.76763582_76763582dupC	ENSP00000261183:p.Arg692fs		A8K1T2|E9PE66|E9PE68|Q52LQ3|Q68D75|Q8WXP8|Q9P277	Frame_Shift_Ins	INS	ENST00000261183.3	37	CCDS31862.1																																																																																				0.366	OSBPL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406357.1	NM_020841		C	76763582	-	C	76763581	7	5	745	1	0	1	1	0	0	0	0	0	11285	1538	54	0	613	0	OSBPL8	12	76763581	Frame_Shift_Ins	INS	-	TCGA-KO-8404-01A-11D-2310-10	19278208	76763581	57088314	92	43646											
PPP1CC	5501	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	111160464	111160464	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr12:111160464C>T	ENST00000335007.5	-	5	750	c.560G>A	c.(559-561)cGg>cAg	p.R187Q	PPP1CC_ENST00000550991.1_Missense_Mutation_p.R187Q|PPP1CC_ENST00000340766.5_Missense_Mutation_p.R187Q|PPP1CC_ENST00000551676.1_Missense_Mutation_p.R187Q|PPP1CC_ENST00000546933.1_Missense_Mutation_p.R196Q	NM_002710.3	NP_002701.1	P36873	PP1G_HUMAN	protein phosphatase 1, catalytic subunit, gamma isozyme	187					cell division (GO:0051301)|circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|glycogen metabolic process (GO:0005977)|mitotic cell cycle (GO:0000278)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron differentiation (GO:0030182)|protein dephosphorylation (GO:0006470)|regulation of circadian rhythm (GO:0042752)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)|triglyceride catabolic process (GO:0019433)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|focal adhesion (GO:0005925)|kinetochore (GO:0000776)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)|PTW/PP1 phosphatase complex (GO:0072357)	metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|large_intestine(2)|lung(3)	6						CATAATTCGCCGAATCTGCTC	0.393																																																0													78	74	76					12																	111160464		2203	4300	6503	SO:0001583	missense	5501				CCDS9150.1, CCDS58279.1	12q24.1-q24.2	2013-01-17	2010-03-05		ENSG00000186298	ENSG00000186298	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9283	protein-coding gene	gene with protein product		176914	"protein phosphatase 1, catalytic subunit, gamma isoform"				Standard	NM_002710		Approved	PP1C, PP1gamma	uc021rdx.1	P36873	OTTHUMG00000169531	ENST00000335007.5:c.560G>A	12.37:g.111160464C>T	ENSP00000335084:p.Arg187Gln			Missense_Mutation	SNP	ENST00000335007.5	37	CCDS9150.1	.	.	.	.	.	.	.	.	.	.	C	18.17	3.563884	0.65651	.	.	ENSG00000186298	ENST00000335007;ENST00000340766;ENST00000550261;ENST00000551582;ENST00000553024;ENST00000546933;ENST00000550991;ENST00000551676	T;T;T;T;T	0.06371	3.31;3.31;3.31;3.31;3.31	5.79	2.98	0.34508	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.045683	0.85682	D	0.000000	T	0.08758	0.0217	M	0.66439	2.03	0.49798	D	0.999826	B	0.23490	0.086	B	0.16722	0.016	T	0.06625	-1.0816	10	0.62326	D	0.03	-0.2296	9.7321	0.40368	0.0:0.7557:0.1166:0.1277	.	187	P36873	PP1G_HUMAN	Q	187;187;46;5;5;196;187;187	ENSP00000335084:R187Q;ENSP00000341779:R187Q;ENSP00000447122:R196Q;ENSP00000448981:R187Q;ENSP00000448437:R187Q	ENSP00000335084:R187Q	R	-	2	0	PPP1CC	109644847	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.960000	0.70348	0.461000	0.27071	0.655000	0.94253	CGG		0.393	PPP1CC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404659.1			T	111160464	C	T	111160464	3	4	745	1	0	0	0	0	1	0	0	0	12356	652	23	1	423	1	PPP1CC	12	111160464	Missense_Mutation	SNP	C	TCGA-KO-8404-01A-11D-2310-10	34396883	111160464	22691431	93	43647											
UBC	7316	mdanderson.org	37	12	125397895	125397895	+	Silent	SNP	A	A	G	rs199930220	byFrequency	TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr12:125397895A>G	ENST00000538617.1	-	3	739	c.423T>C	c.(421-423)tcT>tcC	p.S141S	UBC_ENST00000339647.5_Silent_p.S141S|UBC_ENST00000536769.1_Silent_p.S141S|UBC_ENST00000536661.1_5'Flank|MIR5188_ENST00000583467.1_RNA|UBC_ENST00000546120.1_Intron			P0CG48	UBC_HUMAN	ubiquitin C	521	Ubiquitin-like 2. {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)		GGTGCAGGGTAGACTCTTTCT	0.557													-|||	173	0.0345447	0.0439	0.013	5008	,	,		27341	0.002		0.0298	False		,,,				2504	0.0757															0													96	92	93					12																	125397895		2203	4290	6493	SO:0001819	synonymous_variant	7316				CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"polyubiquitin-C"	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000538617.1:c.423T>C	12.37:g.125397895A>G			P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000538617.1	37																																																																																					0.557	UBC-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000400179.1	NM_021009		G	125397895	A	G	125397895	2	3	745	1	0	0	0	0	0	0	0	1	16847	407	15	3		3	UBC	12	125397895	Silent	SNP	A	TCGA-KO-8404-01A-11D-2310-10	14237431	125397895	8454000	94	43648											
PABPC3	5042	mdanderson.org	37	13	25670877	25670877	+	Missense_Mutation	SNP	G	G	A	rs112107735	byFrequency	TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr13:25670877G>A	ENST00000281589.3	+	1	578	c.541G>A	c.(541-543)Gct>Act	p.A181T		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	181					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)		AGAACGAGAAGCTGAACTTGG	0.403													g|||	36	0.0071885	0.0151	0.0043	5008	,	,		22319	0.002		0.003	False		,,,				2504	0.0082															0													101	95	97					13																	25670877		2203	4300	6503	SO:0001583	missense	5042			AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"RNA binding motif (RRM) containing"	8556	protein-coding gene	gene with protein product	"testis PABP"	604680	"poly(A)-binding protein, cytoplasmic 3"	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.541G>A	13.37:g.25670877G>A	ENSP00000281589:p.Ala181Thr		Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.133453	0.56828	.	.	ENSG00000151846	ENST00000281589	D	0.85629	-2.01	0.828	0.828	0.18841	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.46758	U	0.000272	T	0.80341	0.4605	M	0.69463	2.115	0.43275	D	0.995232	P	0.38335	0.627	B	0.37550	0.253	T	0.76849	-0.2807	10	0.51188	T	0.08	.	7.4633	0.27308	1.0E-4:0.0:0.9999:0.0	.	181	Q9H361	PABP3_HUMAN	T	181	ENSP00000281589:A181T	ENSP00000281589:A181T	A	+	1	0	PABPC3	24568877	1.000000	0.71417	0.873000	0.34254	0.379000	0.30106	4.761000	0.62243	0.748000	0.32831	0.305000	0.20034	GCT		0.403	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		A	25670877	G	A	25670877	3	1	745	1	0	0	0	0	1	0	0	0	11367	971	34	2	543	2	PABPC3	13	25670877	Missense_Mutation	SNP	G	TCGA-KO-8404-01A-11D-2310-10		25670877	89499001	95	43649											
PABPC3	5042	mdanderson.org	37	13	25671786	25671786	+	Missense_Mutation	SNP	G	G	A	rs113301206	byFrequency	TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr13:25671786G>A	ENST00000281589.3	+	1	1487	c.1450G>A	c.(1450-1452)Gtg>Atg	p.V484M		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	484					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)		AACACAGACAGTGGGTCCACG	0.537													g|||	617	0.123203	0.1876	0.1081	5008	,	,		22365	0.0655		0.0666	False		,,,				2504	0.1646															0													64	58	60					13																	25671786		2203	4300	6503	SO:0001583	missense	5042			AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"RNA binding motif (RRM) containing"	8556	protein-coding gene	gene with protein product	"testis PABP"	604680	"poly(A)-binding protein, cytoplasmic 3"	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1450G>A	13.37:g.25671786G>A	ENSP00000281589:p.Val484Met		Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	G	4.651	0.121106	0.08881	.	.	ENSG00000151846	ENST00000281589	T	0.26957	1.7	0.875	-0.771	0.11002	.	0.098881	0.40908	N	0.000987	T	0.04363	0.0120	N	0.00197	-1.87	0.23421	N	0.997711	B	0.02656	0.0	B	0.09377	0.004	T	0.38243	-0.9670	10	0.30854	T	0.27	.	4.3022	0.10930	0.7031:0.0:0.2969:0.0	.	484	Q9H361	PABP3_HUMAN	M	484	ENSP00000281589:V484M	ENSP00000281589:V484M	V	+	1	0	PABPC3	24569786	0.402000	0.25311	0.468000	0.27192	0.114000	0.19823	0.521000	0.22893	-0.307000	0.08804	0.313000	0.20887	GTG		0.537	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		A	25671786	G	A	25671786	3	1	745	1	0	0	0	0	1	0	0	0	11367	1029	36	2	1452	2	PABPC3	13	25671786	Missense_Mutation	SNP	G	TCGA-KO-8404-01A-11D-2310-10	909	25671786	89498092	96	43650											
RB1	5925	broad.mit.edu;hgsc.bcm.edu	37	13	49039350	49039359	+	Frame_Shift_Del	DEL	TTGTCACCAA	TTGTCACCAA	-			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	TTGTCACCAA	TTGTCACCAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr13:49039350_49039359delTTGTCACCAA	ENST00000267163.4	+	23	2473_2482	c.2335_2344delTTGTCACCAA	c.(2335-2346)ttgtcaccaatafs	p.LSPI779fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	779	Domain C; mediates interaction with E4F1.|Interaction with LIMD1.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(11)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	GCCCCCTACCTTGTCACCAATACCTCACAT	0.381		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"L, E, M, O"	26	Whole gene deletion(15)|Unknown(11)	bone(11)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|lung(1)|liver(1)																																								SO:0001589	frameshift_variant	5925	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.2335_2344delTTGTCACCAA	13.37:g.49039350_49039359delTTGTCACCAA	ENSP00000267163:p.Leu779fs		A8K5E3|P78499|Q5VW46|Q8IZL4	Frame_Shift_Del	DEL	ENST00000267163.4	37	CCDS31973.1																																																																																				0.381	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			-	49039359	TTGTCACCAA	-	49039350	7	5	745	1	0	1	0	1	0	0	0	0	13104	1606	56	0	2425	0	RB1	13	49039350	Frame_Shift_Del	DEL	TTGTCACCAA	TCGA-KO-8404-01A-11D-2310-10	23367564	49039350	66130528	97	43651	430	2									
RB1	5925	bcgsc.ca	37	13	49039351	49039360	+	Frame_Shift_Del	DEL	TTGTCACCAA	TTGTCACCAA	-			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	TTGTCACCAA	TTGTCACCAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr13:49039351_49039360delTTGTCACCAA	ENST00000267163.4	+	23	2474_2483	c.2336_2345delTTGTCACCAA	c.(2335-2346)tttgtcaccaaafs	p.FVTK779fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	779	Domain C; mediates interaction with E4F1.|Interaction with LIMD1.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(11)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	CCCCCTACCTTGTCACCAATACCTCACATT	0.381		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"L, E, M, O"	26	Whole gene deletion(15)|Unknown(11)	bone(11)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|lung(1)|liver(1)																																								SO:0001589	frameshift_variant	5925	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.2336_2345delTTGTCACCAA	13.37:g.49039351_49039360delTTGTCACCAA	ENSP00000267163:p.Phe779fs		A8K5E3|P78499|Q5VW46|Q8IZL4	Frame_Shift_Del	DEL	ENST00000267163.4	37	CCDS31973.1																																																																																				0.381	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			-	49039360	TTGTCACCAA	-	49039351	7	5	745	1	0	1	0	1	0	0	0	0	13104	1821	63	0	2426	0	RB1	13	49039351	Frame_Shift_Del	DEL	TTGTCACCAA	TCGA-KO-8404-01A-11D-2310-10	1	49039351	66130527	98	43652	430	2									
HOMEZ	57594	mdanderson.org	37	14	23744844	23744844	+	Silent	SNP	C	C	T			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr14:23744844C>T	ENST00000357460.5	-	2	1757	c.1593G>A	c.(1591-1593)gaG>gaA	p.E531E	HOMEZ_ENST00000561013.1_Silent_p.E533E|HOMEZ_ENST00000431326.2_Silent_p.E533E	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	531	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		cctcctcctcctcttcctcat	0.493																																																0													37	36	36					14																	23744844		2196	4286	6482	SO:0001819	synonymous_variant	57594			AB037864	CCDS45085.1	14q11.2	2011-06-20	2007-02-15	2007-02-15		ENSG00000215271		"Homeoboxes / ZF class"	20164	protein-coding gene	gene with protein product		608119	"KIAA1443"	KIAA1443		12925734	Standard	NM_020834		Approved		uc001wja.2	Q8IX15		ENST00000357460.5:c.1593G>A	14.37:g.23744844C>T			A1L445|B4DZ80|F8WCA3|Q6P049|Q86XB6|Q9P2A5	Silent	SNP	ENST00000357460.5	37	CCDS45085.1																																																																																				0.493	HOMEZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000416939.2	NM_020834		T	23744844	C	T	23744844	2	4	745	1	0	0	0	0	0	0	0	1	7283	680	24	2		2	HOMEZ	14	23744844	Silent	SNP	C	TCGA-KO-8404-01A-11D-2310-10		23744844	83604696	99	43653	431	2									
HOMEZ	57594	mdanderson.org	37	14	23744847	23744847	+	Silent	SNP	T	T	C			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr14:23744847T>C	ENST00000357460.5	-	2	1754	c.1590A>G	c.(1588-1590)gaA>gaG	p.E530E	HOMEZ_ENST00000561013.1_Silent_p.E532E|HOMEZ_ENST00000431326.2_Silent_p.E532E	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	530	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		cctcctcctcttcctcatcat	0.488																																																0													37	36	36					14																	23744847		2196	4291	6487	SO:0001819	synonymous_variant	57594			AB037864	CCDS45085.1	14q11.2	2011-06-20	2007-02-15	2007-02-15		ENSG00000215271		"Homeoboxes / ZF class"	20164	protein-coding gene	gene with protein product		608119	"KIAA1443"	KIAA1443		12925734	Standard	NM_020834		Approved		uc001wja.2	Q8IX15		ENST00000357460.5:c.1590A>G	14.37:g.23744847T>C			A1L445|B4DZ80|F8WCA3|Q6P049|Q86XB6|Q9P2A5	Silent	SNP	ENST00000357460.5	37	CCDS45085.1																																																																																				0.488	HOMEZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000416939.2	NM_020834		C	23744847	T	C	23744847	2	2	745	1	0	0	0	0	0	0	0	1	7283	1606	56	3		3	HOMEZ	14	23744847	Silent	SNP	T	TCGA-KO-8404-01A-11D-2310-10	3	23744847	83604693	100	43654	431	2									
KLHDC2	23588	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	14	50244621	50244621	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr14:50244621G>A	ENST00000298307.5	+	4	1277	c.416G>A	c.(415-417)gGa>gAa	p.G139E	KLHDC2_ENST00000554589.1_Missense_Mutation_p.G139E|KLHDC2_ENST00000557247.1_Missense_Mutation_p.G139E|KLHDC2_ENST00000553538.1_3'UTR	NM_014315.2	NP_055130.1	Q9Y2U9	KLDC2_HUMAN	kelch domain containing 2	139						nucleus (GO:0005634)				endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(31;0.000959)|Breast(41;0.0117)					GATTGCCAAGGAATTCCTCCA	0.388																																																0													128	121	123					14																	50244621		2203	4300	6503	SO:0001583	missense	23588			AK001771	CCDS9693.1	14q21.3	2003-01-15			ENSG00000165516	ENSG00000165516			20231	protein-coding gene	gene with protein product		611280				11384994	Standard	NM_014315		Approved	HCLP-1, LCP	uc001wwx.3	Q9Y2U9	OTTHUMG00000140288	ENST00000298307.5:c.416G>A	14.37:g.50244621G>A	ENSP00000298307:p.Gly139Glu		B3KPF9|Q6IAF0|Q86TY9	Missense_Mutation	SNP	ENST00000298307.5	37	CCDS9693.1	.	.	.	.	.	.	.	.	.	.	G	32	5.166146	0.94768	.	.	ENSG00000165516	ENST00000298307;ENST00000554589;ENST00000557247	T;T;T	0.68765	-0.35;-0.35;-0.35	5.74	5.74	0.90152	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.83524	0.5273	M	0.79805	2.47	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.977;1.0;0.998	D	0.85024	0.0913	10	0.87932	D	0	-18.9077	18.9112	0.92485	0.0:0.0:1.0:0.0	.	139;139;139	G3V2H2;G3V3U8;Q9Y2U9	.;.;KLDC2_HUMAN	E	139	ENSP00000298307:G139E;ENSP00000451439:G139E;ENSP00000450658:G139E	ENSP00000298307:G139E	G	+	2	0	KLHDC2	49314371	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.055000	0.93873	2.717000	0.92951	0.655000	0.94253	GGA		0.388	KLHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276869.1			A	50244621	G	A	50244621	3	1	745	1	0	0	0	0	1	0	0	0	8358	1174	41	2	430	2	KLHDC2	14	50244621	Missense_Mutation	SNP	G	TCGA-KO-8404-01A-11D-2310-10	26499774	50244621	57104919	101	43655											
ADAM21	8747	mdanderson.org	37	14	70924613	70924613	+	Nonsense_Mutation	SNP	C	C	T	rs138262361	byFrequency	TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr14:70924613C>T	ENST00000603540.1	+	2	655	c.397C>T	c.(397-399)Cga>Tga	p.R133*	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Nonsense_Mutation_p.R133*	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	133					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TGGGGGCTTTCGAGGAGTATT	0.448																																																0													74	86	82					14																	70924613		2202	4300	6502	SO:0001587	stop_gained	8747			AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"ADAM metallopeptidase domain containing"	200	protein-coding gene	gene with protein product		603713	"a disintegrin and metalloproteinase domain 21"			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.397C>T	14.37:g.70924613C>T	ENSP00000474385:p.Arg133*		O43507|Q2VPC6|Q32MR0	Nonsense_Mutation	SNP	ENST00000603540.1	37	CCDS9804.1	.	.	.	.	.	.	.	.	.	.	C	9.227	1.034843	0.19590	.	.	ENSG00000139985	ENST00000267499	.	.	.	3.76	3.76	0.43208	.	0.682149	0.11938	U	0.515009	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	12.162	0.54109	0.1717:0.8283:0.0:0.0	.	.	.	.	X	133	.	ENSP00000267499:R133X	R	+	1	2	ADAM21	69994366	0.003000	0.15002	0.322000	0.25334	0.071000	0.16799	1.122000	0.31295	2.090000	0.63153	0.557000	0.71058	CGA		0.448	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3			T	70924613	C	T	70924613	4	4	745	1	0	0	0	0	0	1	0	0	243	876	31	1	399	1	ADAM21	14	70924613	Nonsense_Mutation	SNP	C	TCGA-KO-8404-01A-11D-2310-10	20679992	70924613	36424927	102	43656											
AHNAK2	113146	mdanderson.org	37	14	105416323	105416323	+	Missense_Mutation	SNP	T	T	C	rs11847209	byFrequency	TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr14:105416323T>C	ENST00000333244.5	-	7	5584	c.5465A>G	c.(5464-5466)aAg>aGg	p.K1822R	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1822						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)			CATTTTGAACTTGCTGTCTTT	0.617																																																0													178	215	203					14																	105416323		1930	4091	6021	SO:0001583	missense	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.5465A>G	14.37:g.105416323T>C	ENSP00000353114:p.Lys1822Arg		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	33	0.01510989010989011	10	0.02032520325203252	6	0.016574585635359115	9	0.015734265734265736	8	0.010554089709762533	t	20.2	3.943625	0.73672	.	.	ENSG00000185567	ENST00000333244	T	0.00882	5.58	4.52	4.52	0.55395	.	.	.	.	.	T	0.02533	0.0077	H	0.94808	3.585	0.24253	N	0.995314	D	0.56521	0.976	P	0.56398	0.797	T	0.18745	-1.0327	9	0.44086	T	0.13	-26.778	9.1058	0.36696	0.0:0.0891:0.0:0.9109	rs11847209	1822	Q8IVF2	AHNK2_HUMAN	R	1822	ENSP00000353114:K1822R	ENSP00000353114:K1822R	K	-	2	0	AHNAK2	104487368	0.990000	0.36364	1.000000	0.80357	0.760000	0.43138	3.218000	0.51192	1.695000	0.51148	0.374000	0.22700	AAG		0.617	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		C	105416323	T	C	105416323	3	2	745	1	0	0	0	0	1	0	0	0	415	1609	56	3	11926	3	AHNAK2	14	105416323	Missense_Mutation	SNP	T	TCGA-KO-8404-01A-11D-2310-10	34491710	105416323	1933217	103	43657											
CHRFAM7A	89832	broad.mit.edu	37	15	30659650	30659651	+	Frame_Shift_Ins	INS	-	-	G	rs371263130|rs368423557		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr15:30659650_30659651insG	ENST00000299847.2	-	9	1143_1144	c.690_691insC	c.(688-693)cacgacfs	p.D231fs	CHRFAM7A_ENST00000401522.3_Frame_Shift_Ins_p.D140fs|CHRFAM7A_ENST00000397827.3_Frame_Shift_Ins_p.D140fs	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	231						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)		CCGTCGGGGTCGTGGTGGTGGT	0.599																																																0																																										SO:0001589	frameshift_variant	89832			AF029838	CCDS32184.1, CCDS42008.1	15q13.2	2013-04-24	2006-02-01		ENSG00000166664	ENSG00000166664			15781	protein-coding gene	gene with protein product		609756				11829490	Standard	NM_139320		Approved	D-10, CHRNA7-DR1	uc001zdt.1	Q494W8	OTTHUMG00000175645	ENST00000299847.2:c.691dupC	15.37:g.30659651_30659651dupG	ENSP00000299847:p.Asp231fs		A8KAB9	Frame_Shift_Ins	INS	ENST00000299847.2	37	CCDS32184.1																																																																																				0.599	CHRFAM7A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430700.1	NM_148911		G	30659651	-	G	30659650	7	5	745	1	0	1	1	0	0	0	0	0	3377	884	31	0	555	0	CHRFAM7A	15	30659650	Frame_Shift_Ins	INS	-	TCGA-KO-8404-01A-11D-2310-10		30659650	71871742	104	43658											
ITGA11	22801	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	15	68624721	68624721	+	Silent	SNP	G	G	A	rs373616131		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr15:68624721G>A	ENST00000315757.7	-	13	1607	c.1521C>T	c.(1519-1521)aaC>aaT	p.N507N	ITGA11_ENST00000423218.2_Silent_p.N507N	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	507					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						CACGGCCCTCGTTGAAGTACA	0.597																																																0								G		0,4252		0,0,2126	38	40	39		1521	1	1	15		39	1,8453		0,1,4226	no	coding-synonymous	ITGA11	NM_001004439.1		0,1,6352	AA,AG,GG		0.0118,0.0,0.0079		507/1189	68624721	1,12705	2126	4227	6353	SO:0001819	synonymous_variant	22801			AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"Integrins"	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.1521C>T	15.37:g.68624721G>A			J3KQM2|Q8WYI8|Q9UKQ1	Silent	SNP	ENST00000315757.7	37	CCDS45291.1																																																																																				0.597	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_012211		A	68624721	G	A	68624721	2	1	745	1	0	0	0	0	0	0	0	1	7876	1136	40	1		1	ITGA11	15	68624721	Silent	SNP	G	TCGA-KO-8404-01A-11D-2310-10	37965071	68624721	33906671	105	43659											
CACNA1H	8912	ucsc.edu	37	16	1250559	1250559	+	Silent	SNP	T	T	C	rs8044363	byFrequency	TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr16:1250559T>C	ENST00000348261.5	+	7	1355	c.1107T>C	c.(1105-1107)atT>atC	p.I369I	CACNA1H_ENST00000565831.1_Silent_p.I369I|CACNA1H_ENST00000358590.4_Silent_p.I369I	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	369					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)	ACGCCTGGATTGCCATCTTCC	0.657													t|||	1666	0.332668	0.4902	0.3026	5008	,	,		14574	0.1022		0.4095	False		,,,				2504	0.2996															0			GRCh37	CM071580	CACNA1H	M	rs8044363	C	,	1908,2232		449,1010,611	47	51	49		1107,1107	-6.3	0.9	16	dbSNP_116	49	3581,4807		808,1965,1421	no	coding-synonymous,coding-synonymous	CACNA1H	NM_001005407.1,NM_021098.2	,	1257,2975,2032	CC,CT,TT		42.6919,46.087,43.8139	,	369/2348,369/2354	1250559	5489,7039	2070	4194	6264	SO:0001819	synonymous_variant	8912			AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.1107T>C	16.37:g.1250559T>C			B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Silent	SNP	ENST00000348261.5	37	CCDS45375.1																																																																																				0.657	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		C	1250559	T	C	1250559	2	2	745	1	0	0	0	0	0	0	0	1	2547	1800	63	3		3	CACNA1H	16	1250559	Silent	SNP	T	TCGA-KO-8404-01A-11D-2310-10		1250559	89104194	106	43660											
C16orf59	80178	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	16	2512477	2512477	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr16:2512477G>A	ENST00000361837.4	+	7	877	c.812G>A	c.(811-813)cGg>cAg	p.R271Q	C16orf59_ENST00000563531.1_Missense_Mutation_p.R271Q|C16orf59_ENST00000569496.1_Missense_Mutation_p.R271Q|C16orf59_ENST00000483320.1_Missense_Mutation_p.R104Q|RP11-715J22.4_ENST00000566085.1_lincRNA|RP11-715J22.2_ENST00000563775.1_RNA	NM_025108.2	NP_079384.2	Q7L2K0	CP059_HUMAN	chromosome 16 open reading frame 59	271										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				GGGCGCCTGCGGAAGGCCTGC	0.662																																																0													20	25	23					16																	2512477		2069	4199	6268	SO:0001583	missense	80178			AK023971	CCDS10468.2	16p13.3	2008-10-30			ENSG00000162062	ENSG00000162062			25849	protein-coding gene	gene with protein product						12477932	Standard	XM_006720955		Approved	FLJ13909	uc002cqh.3	Q7L2K0	OTTHUMG00000128859	ENST00000361837.4:c.812G>A	16.37:g.2512477G>A	ENSP00000355022:p.Arg271Gln		B4DXD7|Q96H61|Q9H872	Missense_Mutation	SNP	ENST00000361837.4	37	CCDS10468.2	.	.	.	.	.	.	.	.	.	.	G	8.289	0.817204	0.16607	.	.	ENSG00000162062	ENST00000361837	T	0.39592	1.07	4.52	-7.58	0.01313	.	1.914720	0.02825	N	0.126017	T	0.21347	0.0514	N	0.04508	-0.205	0.09310	N	1	B;B;B;B	0.20887	0.049;0.002;0.002;0.002	B;B;B;B	0.09377	0.004;0.001;0.001;0.001	T	0.13255	-1.0516	10	0.25751	T	0.34	-0.2455	14.8491	0.70284	0.7674:0.0:0.2326:0.0	.	104;271;104;104	Q7L2K0-3;Q7L2K0;D3DU95;Q7L2K0-2	.;CP059_HUMAN;.;.	Q	271	ENSP00000355022:R271Q	ENSP00000355022:R271Q	R	+	2	0	C16orf59	2452478	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.265000	0.08644	-1.645000	0.01515	-0.302000	0.09304	CGG		0.662	C16orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250802.3	NM_025108		A	2512477	G	A	2512477	3	1	745	1	0	0	0	0	1	0	0	0	1825	1116	39	1	838	1	C16orf59	16	2512477	Missense_Mutation	SNP	G	TCGA-KO-8404-01A-11D-2310-10	1261918	2512477	87842276	107	43661											
ADCY9	115	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	16	4029168	4029168	+	Silent	SNP	G	G	A			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr16:4029168G>A	ENST00000294016.3	-	8	3166	c.2628C>T	c.(2626-2628)ccC>ccT	p.P876P		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	876					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						CGGCCAGTGCGGGAAGCGACA	0.582																																																0													128	121	124					16																	4029168		2197	4300	6497	SO:0001819	synonymous_variant	115			AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"Adenylate cyclases"	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.2628C>T	16.37:g.4029168G>A			A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Silent	SNP	ENST00000294016.3	37	CCDS32382.1																																																																																				0.582	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			A	4029168	G	A	4029168	2	1	745	1	0	0	0	0	0	0	0	1	301	1103	39	1		1	ADCY9	16	4029168	Silent	SNP	G	TCGA-KO-8404-01A-11D-2310-10	1516691	4029168	86325585	108	43662											
ACSM2A	123876	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	16	20497990	20497990	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr16:20497990G>A	ENST00000573854.1	+	14	1838	c.1724G>A	c.(1723-1725)cGt>cAt	p.R575H	ACSM2A_ENST00000575690.1_Missense_Mutation_p.R575H|ACSM2A_ENST00000396104.2_Missense_Mutation_p.R575H|ACSM2A_ENST00000417235.2_Missense_Mutation_p.R496H|AC137056.1_ENST00000593357.1_5'Flank|ACSM2A_ENST00000536134.1_Missense_Mutation_p.R347H|ACSM2A_ENST00000219054.6_Missense_Mutation_p.R575H	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	575					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						GGAAAAGCCCGTGCGCAGTGA	0.463																																																0													187	176	180					16																	20497990		2203	4300	6503	SO:0001583	missense	123876			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.1724G>A	16.37:g.20497990G>A	ENSP00000459451:p.Arg575His		B3KTT9|O75202	Missense_Mutation	SNP	ENST00000573854.1	37	CCDS32401.1	.	.	.	.	.	.	.	.	.	.	G	9.595	1.127180	0.20959	.	.	ENSG00000183747	ENST00000417235;ENST00000219054;ENST00000536134;ENST00000396104	T;T;T;T	0.48836	0.8;0.82;1.34;0.82	2.88	-4.8	0.03190	.	.	.	.	.	T	0.25382	0.0617	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.06405	0.002	T	0.16276	-1.0408	9	0.49607	T	0.09	-0.2477	12.1986	0.54311	0.8314:0.0:0.1686:0.0	.	575	Q08AH3	ACS2A_HUMAN	H	496;575;347;575	ENSP00000392169:R496H;ENSP00000219054:R575H;ENSP00000445082:R347H;ENSP00000379411:R575H	ENSP00000219054:R575H	R	+	2	0	ACSM2A	20405491	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.368000	0.02580	-1.196000	0.02676	-0.667000	0.03836	CGT		0.463	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		A	20497990	G	A	20497990	3	1	745	1	0	0	0	0	1	0	0	0	183	1145	40	1	1774	1	ACSM2A	16	20497990	Missense_Mutation	SNP	G	TCGA-KO-8404-01A-11D-2310-10	16468822	20497990	69856763	109	43663											
CYLD	1540	broad.mit.edu;mdanderson.org	37	16	50825539	50825539	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr16:50825539G>A	ENST00000427738.3	+	14	2384	c.2179G>A	c.(2179-2181)Gtt>Att	p.V727I	CYLD_ENST00000569418.1_Missense_Mutation_p.V724I|CYLD_ENST00000568704.2_Missense_Mutation_p.V542I|RP11-327F22.4_ENST00000564510.1_RNA|CYLD_ENST00000566206.1_Missense_Mutation_p.V724I|CYLD_ENST00000398568.2_Missense_Mutation_p.V724I|RP11-327F22.4_ENST00000575917.1_RNA|CYLD_ENST00000564326.1_Missense_Mutation_p.V724I|CYLD_ENST00000540145.1_Missense_Mutation_p.V727I|CYLD_ENST00000311559.9_Missense_Mutation_p.V727I			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	727	USP.				cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|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 extrinsic apoptotic signaling pathway (GO:2001238)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634)	Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				GAAAGTTGGCGTTCCCACAAT	0.343			"Mis, N, F, S"		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																													yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	familial cylindromatosis gene		E	0													100	95	97					16																	50825539		1821	4072	5893	SO:0001583	missense	1540	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	AB020656	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17							2584	protein-coding gene	gene with protein product	"ubiquitin specific peptidase like 2"	605018		CYLD1		7493027	Standard	NM_015247		Approved	KIAA0849, USPL2	uc002egq.1	Q9NQC7		ENST00000427738.3:c.2179G>A	16.37:g.50825539G>A	ENSP00000392025:p.Val727Ile		O94934|Q7L3N6|Q96EH0|Q9NZX9	Missense_Mutation	SNP	ENST00000427738.3	37	CCDS45482.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.384758	0.61956	.	.	ENSG00000083799	ENST00000540145;ENST00000311559;ENST00000427738;ENST00000398568	T;T;T	0.73152	-0.72;-0.72;-0.72	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.65069	0.2656	L	0.59436	1.845	0.80722	D	1	B;B	0.28470	0.213;0.178	B;B	0.23018	0.043;0.017	T	0.63242	-0.6681	10	0.38643	T	0.18	-24.6854	12.6285	0.56644	0.0756:0.0:0.9244:0.0	.	724;724	A8KAB0;Q9NQC7-2	.;.	I	727;727;724;724	ENSP00000445447:V727I;ENSP00000308928:V727I;ENSP00000381574:V724I	ENSP00000308928:V727I	V	+	1	0	CYLD	49383040	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.476000	0.97823	2.562000	0.86427	0.650000	0.86243	GTT		0.343	CYLD-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422998.2			A	50825539	G	A	50825539	3	1	745	1	0	0	0	0	1	0	0	0	4145	1145	40	1	2229	1	CYLD	16	50825539	Missense_Mutation	SNP	G	TCGA-KO-8404-01A-11D-2310-10	30327549	50825539	39529214	110	43664											
MLYCD	23417	broad.mit.edu;hgsc.bcm.edu	37	16	83941751	83941752	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr16:83941751_83941752insA	ENST00000262430.4	+	3	681_682	c.662_663insA	c.(661-666)gtaaaafs	p.VK221fs	RP11-505K9.4_ENST00000566309.1_5'Flank|RP11-505K9.4_ENST00000561562.1_3'UTR	NM_012213.2	NP_036345.2	O95822	DCMC_HUMAN	malonyl-CoA decarboxylase	221	Catalytic domain.				acetyl-CoA biosynthetic process (GO:0006085)|cellular lipid metabolic process (GO:0044255)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA catabolic process (GO:2001294)|positive regulation of fatty acid oxidation (GO:0046321)|regulation of glucose metabolic process (GO:0010906)|response to ischemia (GO:0002931)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	malonyl-CoA decarboxylase activity (GO:0050080)|receptor binding (GO:0005102)			NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						GTGCATCCTGTAAAAAACTGGA	0.5																																																0																																										SO:0001589	frameshift_variant	23417			AF153679	CCDS42206.1	16q24	2009-02-04				ENSG00000103150			7150	protein-coding gene	gene with protein product		606761				10455107, 9869665	Standard	NM_012213		Approved	MCD, hMCD	uc002fgz.3	O95822		ENST00000262430.4:c.668dupA	16.37:g.83941757_83941757dupA	ENSP00000262430:p.Val221fs		Q9UNU5|Q9Y3F2	Frame_Shift_Ins	INS	ENST00000262430.4	37	CCDS42206.1																																																																																				0.5	MLYCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433009.1	NM_012213		A	83941752	-	A	83941751	7	5	745	1	0	1	1	0	0	0	0	0	9640	1638	57	0	672	0	MLYCD	16	83941751	Frame_Shift_Ins	INS	-	TCGA-KO-8404-01A-11D-2310-10	33116212	83941751	6413002	111	43665	432	2									
MLYCD	23417	bcgsc.ca	37	16	83941752	83941753	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr16:83941752_83941753insA	ENST00000262430.4	+	3	682_683	c.663_664insA	c.(664-666)aaafs	p.K222fs	RP11-505K9.4_ENST00000566309.1_5'Flank|RP11-505K9.4_ENST00000561562.1_3'UTR	NM_012213.2	NP_036345.2	O95822	DCMC_HUMAN	malonyl-CoA decarboxylase	222	Catalytic domain.				acetyl-CoA biosynthetic process (GO:0006085)|cellular lipid metabolic process (GO:0044255)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA catabolic process (GO:2001294)|positive regulation of fatty acid oxidation (GO:0046321)|regulation of glucose metabolic process (GO:0010906)|response to ischemia (GO:0002931)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	malonyl-CoA decarboxylase activity (GO:0050080)|receptor binding (GO:0005102)			NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						TGCATCCTGTAAAAAACTGGAT	0.5																																																0																																										SO:0001589	frameshift_variant	23417			AF153679	CCDS42206.1	16q24	2009-02-04				ENSG00000103150			7150	protein-coding gene	gene with protein product		606761				10455107, 9869665	Standard	NM_012213		Approved	MCD, hMCD	uc002fgz.3	O95822		ENST00000262430.4:c.668dupA	16.37:g.83941757_83941757dupA	ENSP00000262430:p.Lys222fs		Q9UNU5|Q9Y3F2	Frame_Shift_Ins	INS	ENST00000262430.4	37	CCDS42206.1																																																																																				0.5	MLYCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433009.1	NM_012213		A	83941753	-	A	83941752	7	5	745	1	0	1	1	0	0	0	0	0	9640	349	13	0	673	0	MLYCD	16	83941752	Frame_Shift_Ins	INS	-	TCGA-KO-8404-01A-11D-2310-10	1	83941752	6413001	112	43666	432	2									
ZNF232	7775	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	17	5012951	5012951	+	Missense_Mutation	SNP	C	C	T	rs550026345		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr17:5012951C>T	ENST00000250076.3	-	3	890	c.236G>A	c.(235-237)cGc>cAc	p.R79H	ZNF232_ENST00000575538.1_Intron|AC012146.7_ENST00000413077.1_RNA|ZNF232_ENST00000416429.2_Missense_Mutation_p.R52H|ZNF232_ENST00000575898.1_Missense_Mutation_p.R79H|AC012146.7_ENST00000571138.1_RNA	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	52	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						GAAGCGTTGGCGGAAGATCTC	0.542													C|||	1	0.000199681	0.0	0.0	5008	,	,		19148	0.0		0.0	False		,,,				2504	0.001															0													167	136	146					17																	5012951		2203	4300	6503	SO:0001583	missense	7775			AF080169	CCDS11068.1	17p13.2	2013-01-09			ENSG00000167840	ENSG00000167840		"-", "Zinc fingers, C2H2-type"	13026	protein-coding gene	gene with protein product						11311944	Standard	NM_014519		Approved	ZSCAN11	uc002gat.3	Q9UNY5	OTTHUMG00000099450	ENST00000250076.3:c.236G>A	17.37:g.5012951C>T	ENSP00000250076:p.Arg79His			Missense_Mutation	SNP	ENST00000250076.3	37	CCDS11068.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.575421	0.45902	.	.	ENSG00000167840	ENST00000250076;ENST00000416429	T;T	0.07444	3.19;3.19	3.0	-0.0854	0.13686	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.257236	0.20735	N	0.086644	T	0.17704	0.0425	M	0.73430	2.235	0.23254	N	0.998034	P;D;B;B	0.60160	0.903;0.987;0.12;0.098	P;P;B;B	0.58820	0.545;0.846;0.018;0.015	T	0.04307	-1.0961	10	0.59425	D	0.04	.	5.2561	0.15548	0.0:0.5949:0.0:0.4051	.	79;52;52;52	B4DNA7;B4DP49;Q9UNY5;Q9UNY5-2	.;.;ZN232_HUMAN;.	H	79;52	ENSP00000250076:R79H;ENSP00000416430:R52H	ENSP00000250076:R79H	R	-	2	0	ZNF232	4953675	0.004000	0.15560	0.932000	0.37286	0.973000	0.67179	0.096000	0.15147	0.022000	0.15160	0.561000	0.74099	CGC		0.542	ZNF232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216915.1	NM_014519		T	5012951	C	T	5012951	3	4	745	1	0	0	0	0	1	0	0	0	17790	768	27	1	1110	1	ZNF232	17	5012951	Missense_Mutation	SNP	C	TCGA-KO-8404-01A-11D-2310-10		5012951	76182259	113	43667											
TP53	7157	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	17	7577609	7577609	+	Splice_Site	SNP	C	C	T			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr17:7577609C>T	ENST00000269305.4	-	7	862		c.e7-1		TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000574684.1_Splice_Site|TP53_ENST00000359597.4_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.?(33)|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)	CAGAGCCAACCTAGGAGATAA	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)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	43	Unknown(33)|Whole gene deletion(8)|Insertion - In frame(1)|Insertion - Frameshift(1)	biliary_tract(9)|lung(9)|central_nervous_system(4)|bone(4)|liver(4)|upper_aerodigestive_tract(3)|breast(3)|oesophagus(2)|ovary(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	GRCh37	CS011061	TP53	S							89	75	80					17																	7577609		2203	4300	6503	SO:0001630	splice_region_variant	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.673-1G>A	17.37:g.7577609C>T			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	19.34	3.808655	0.70797	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	.	.	.	3.35	3.35	0.38373	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.965	0.58480	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7518334	1.000000	0.71417	0.321000	0.25320	0.603000	0.37013	7.494000	0.81503	2.158000	0.67659	0.462000	0.41574	.		0.527	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	T	7577609	C	T	7577609	5	4	745	1	0	0	0	0	0	0	1	0	16386	695	24	2	618	2	TP53	17	7577609	Splice_Site	SNP	C	TCGA-KO-8404-01A-11D-2310-10	2564658	7577609	73617601	114	43668											
RAI1	10743	broad.mit.edu	37	17	17700804	17700805	+	Frame_Shift_Ins	INS	-	-	C	rs148698066		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr17:17700804_17700805insC	ENST00000353383.1	+	3	5011_5012	c.4542_4543insC	c.(4543-4545)cccfs	p.P1515fs	RAI1_ENST00000261641.6_Frame_Shift_Ins_p.P1515fs	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1515					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)	p.P1515S(1)|p.P1515F(1)		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)		CGGAGGGCAGGCCCTGCCAGCC	0.649																																																2	Substitution - Missense(2)	skin(2)																																								SO:0001589	frameshift_variant	10743			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.4545dupC	17.37:g.17700807_17700807dupC	ENSP00000323074:p.Pro1515fs		Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Frame_Shift_Ins	INS	ENST00000353383.1	37	CCDS11188.1																																																																																				0.649	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		C	17700805	-	C	17700804	7	5	745	1	0	1	1	0	0	0	0	0	13013	1194	42	0	4544	0	RAI1	17	17700804	Frame_Shift_Ins	INS	-	TCGA-KO-8404-01A-11D-2310-10	10123195	17700804	63494406	115	43669											
LGALS9C	654346	broad.mit.edu	37	17	18387252	18387252	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr17:18387252delG	ENST00000328114.6	+	2	184	c.103delG	c.(103-105)gggfs	p.G35fs	LGALS9C_ENST00000584941.1_Frame_Shift_Del_p.G35fs|LGALS9C_ENST00000412421.2_Intron|LGALS9C_ENST00000581545.1_Frame_Shift_Del_p.G35fs|LGALS9C_ENST00000583322.1_Frame_Shift_Del_p.G35fs|LGALS9C_ENST00000578983.1_3'UTR	NM_001040078.2	NP_001035167.2	Q6DKI2	LEG9C_HUMAN	lectin, galactoside-binding, soluble, 9C	35	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.						carbohydrate binding (GO:0030246)			NS(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	7						CACTGTCAATGGGGCCGTTCT	0.567																																																0													160	109	127					17																	18387252		2132	3739	5871	SO:0001589	frameshift_variant	654346				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.103delG	17.37:g.18387252delG	ENSP00000329932:p.Gly35fs		B0AZM7	Frame_Shift_Del	DEL	ENST00000328114.6	37	CCDS32587.1																																																																																				0.567	LGALS9C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000131456.2	NM_001040078		-	18387252	G	-	18387252	7	5	745	1	0	1	0	1	0	0	0	0	8752	1348	47	0	109	0	LGALS9C	17	18387252	Frame_Shift_Del	DEL	G	TCGA-KO-8404-01A-11D-2310-10	686448	18387252	62807958	116	43670											
KRTAP4-8	728224	mdanderson.org	37	17	39254149	39254149	+	Missense_Mutation	SNP	G	G	C	rs201246375		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr17:39254149G>C	ENST00000333822.4	-	1	244	c.188C>G	c.(187-189)aCc>aGc	p.T63S		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	63	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						GCGACAGCAGGTGGGCTGGCA	0.652																																																0													7	10	9					17																	39254149		651	1515	2166	SO:0001583	missense	728224			AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"Keratin associated proteins"	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.188C>G	17.37:g.39254149G>C	ENSP00000328444:p.Thr63Ser		A8MSH3	Missense_Mutation	SNP	ENST00000333822.4	37	CCDS45674.1	.	.	.	.	.	.	.	.	.	.	.	3.249	-0.153662	0.06585	.	.	ENSG00000204880	ENST00000333822;ENST00000332991	T	0.01215	5.16	3.11	-1.04	0.10068	.	1.573260	0.03861	N	0.273912	T	0.00724	0.0024	N	0.10809	0.05	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.43637	-0.9379	10	0.05721	T	0.95	.	4.7356	0.12986	0.2319:0.434:0.3341:0.0	.	63	Q9BYQ9	KRA48_HUMAN	S	63	ENSP00000328444:T63S	ENSP00000414561:T63S	T	-	2	0	KRTAP4-8	36507675	0.000000	0.05858	0.109000	0.21407	0.234000	0.25298	-2.396000	0.01052	-0.528000	0.06366	0.449000	0.29647	ACC		0.652	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1	NM_031960		C	39254149	G	C	39254149	3	2	745	1	0	0	0	0	1	0	0	0	8558	1261	44	4	373	4	KRTAP4-8	17	39254149	Missense_Mutation	SNP	G	TCGA-KO-8404-01A-11D-2310-10	20866897	39254149	41941061	117	43671											
CDC27	996	mdanderson.org	37	17	45234325	45234325	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr17:45234325G>A	ENST00000066544.3	-	7	889	c.796C>T	c.(796-798)Cga>Tga	p.R266*	CDC27_ENST00000527547.1_Nonsense_Mutation_p.R266*|CDC27_ENST00000446365.2_Nonsense_Mutation_p.R205*|CDC27_ENST00000528748.1_5'Flank|CDC27_ENST00000531206.1_Nonsense_Mutation_p.R266*	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	266					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						AATAAACTTCGACCAGTTTTT	0.363																																																0													60	65	63					17																	45234325		2200	4295	6495	SO:0001587	stop_gained	996			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.796C>T	17.37:g.45234325G>A	ENSP00000066544:p.Arg266*		G3V1C4|Q16349|Q96F35	Nonsense_Mutation	SNP	ENST00000066544.3	37	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.117088	0.77323	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547;ENST00000526866	.	.	.	5.64	4.66	0.58398	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.5002	13.5956	0.61987	0.0:0.0:0.8433:0.1567	.	.	.	.	X	266;266;205;266;266	.	ENSP00000066544:R266X	R	-	1	2	CDC27	42589324	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.123000	0.71614	1.354000	0.45846	0.460000	0.39030	CGA		0.363	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			A	45234325	G	A	45234325	4	1	745	1	0	0	0	0	0	1	0	0	3068	1066	37	1	1748	1	CDC27	17	45234325	Nonsense_Mutation	SNP	G	TCGA-KO-8404-01A-11D-2310-10	5980176	45234325	35960885	118	43672											
CDC27	996	mdanderson.org	37	17	45234625	45234625	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr17:45234625C>T	ENST00000066544.3	-	6	694	c.601G>A	c.(601-603)Gtt>Att	p.V201I	CDC27_ENST00000527547.1_Missense_Mutation_p.V201I|CDC27_ENST00000446365.2_Missense_Mutation_p.V140I|CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000531206.1_Missense_Mutation_p.V201I	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	201					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.V201I(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						TCCGTAAGAACTGTCTCAGGC	0.338																																																2	Substitution - Missense(2)	kidney(2)											58	59	59					17																	45234625		2203	4300	6503	SO:0001583	missense	996			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.601G>A	17.37:g.45234625C>T	ENSP00000066544:p.Val201Ile		G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.164668	0.38217	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547;ENST00000526866	T;T;T;T;T	0.67171	-0.25;-0.23;0.02;-0.25;0.85	5.11	5.11	0.69529	.	0.065071	0.64402	D	0.000010	T	0.52805	0.1757	N	0.24115	0.695	0.53688	D	0.999973	B;B;B;B	0.22211	0.031;0.053;0.066;0.031	B;B;B;B	0.20577	0.024;0.022;0.03;0.01	T	0.47923	-0.9079	10	0.22109	T	0.4	-10.941	16.0383	0.80645	0.0:1.0:0.0:0.0	.	140;201;201;201	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	I	201;201;140;201;201	ENSP00000066544:V201I;ENSP00000434614:V201I;ENSP00000392802:V140I;ENSP00000437339:V201I;ENSP00000432105:V201I	ENSP00000066544:V201I	V	-	1	0	CDC27	42589624	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.951000	0.75983	2.391000	0.81399	0.557000	0.71058	GTT		0.338	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			T	45234625	C	T	45234625	3	4	745	1	0	0	0	0	1	0	0	0	3068	565	20	2	1947	2	CDC27	17	45234625	Missense_Mutation	SNP	C	TCGA-KO-8404-01A-11D-2310-10	300	45234625	35960585	119	43673											
SDK2	54549	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	17	71375627	71375627	+	Silent	SNP	C	C	A			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr17:71375627C>A	ENST00000392650.3	-	35	4824	c.4824G>T	c.(4822-4824)ggG>ggT	p.G1608G	SDK2_ENST00000388726.3_Silent_p.G1589G	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1608	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						GGCTGGAGGGCCCCTCACCCA	0.662																																																0													56	48	51					17																	71375627		2203	4299	6502	SO:0001819	synonymous_variant	54549			AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19308	protein-coding gene	gene with protein product		607217	"sidekick homolog 2 (chicken)"			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.4824G>T	17.37:g.71375627C>A			A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Silent	SNP	ENST00000392650.3	37	CCDS45769.1																																																																																				0.662	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		A	71375627	C	A	71375627	2	1	745	1	0	0	0	0	0	0	0	1	13975	726	26	4		4	SDK2	17	71375627	Silent	SNP	C	TCGA-KO-8404-01A-11D-2310-10	26141002	71375627	9819583	120	43674											
NPTX1	4884	broad.mit.edu	37	17	78449424	78449425	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr17:78449424_78449425insG	ENST00000306773.4	-	2	695_696	c.538_539insC	c.(538-540)cggfs	p.R180fs	NPTX1_ENST00000575212.1_5'UTR	NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	neuronal pentraxin I	180					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)			GGTGTTCACCCGGGACAGCACC	0.639																																																0																																										SO:0001589	frameshift_variant	4884			U61849	CCDS32762.1	17q25.3	2008-05-14				ENSG00000171246			7952	protein-coding gene	gene with protein product		602367				8884281	Standard	NM_002522		Approved		uc002jyp.1	Q15818		ENST00000306773.4:c.539dupC	17.37:g.78449427_78449427dupG	ENSP00000307549:p.Arg180fs		B3KXH3|Q5FWE6	Frame_Shift_Ins	INS	ENST00000306773.4	37	CCDS32762.1																																																																																				0.639	NPTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438051.1			G	78449425	-	G	78449424	7	5	745	1	0	1	1	0	0	0	0	0	10604	652	23	0	775	0	NPTX1	17	78449424	Frame_Shift_Ins	INS	-	TCGA-KO-8404-01A-11D-2310-10	7073797	78449424	2745786	121	43675											
MADCAM1	8174	mdanderson.org	37	19	501714	501714	+	Missense_Mutation	SNP	C	C	A	rs78071082	byFrequency	TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr19:501714C>A	ENST00000215637.3	+	4	759	c.713C>A	c.(712-714)cCg>cAg	p.P238Q	MADCAM1_ENST00000382683.4_Intron|MADCAM1_ENST00000346144.4_Intron|AC005775.2_ENST00000592413.1_RNA|MADCAM1_ENST00000587541.1_Missense_Mutation_p.P19Q	NM_130760.2	NP_570116.2	Q13477	MADCA_HUMAN	mucosal vascular addressin cell adhesion molecule 1	238	5.5 X 8 AA tandem repeats of [PS]-P-D-T- T-S-[QP]-E.|Mucin-like.				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)		ACCACCTCCCCGGAGTCTCCC	0.667																																																0													27	42	37					19																	501714		2202	4299	6501	SO:0001583	missense	8174			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.713C>A	19.37:g.501714C>A	ENSP00000215637:p.Pro238Gln		A5PKV4|B2RPL9|O60222|O75867|Q5UGI7	Missense_Mutation	SNP	ENST00000215637.3	37	CCDS12028.1	.	.	.	.	.	.	.	.	.	.	c	9.846	1.192318	0.21954	.	.	ENSG00000099866	ENST00000537731;ENST00000542525;ENST00000543297;ENST00000215637	T	0.11495	2.77	3.69	-3.39	0.04868	.	.	.	.	.	T	0.05181	0.0138	N	0.24115	0.695	0.09310	N	1	P	0.45078	0.85	B	0.40134	0.32	T	0.23084	-1.0198	9	0.34782	T	0.22	.	1.1525	0.01789	0.1428:0.3186:0.2805:0.2581	.	238	Q13477	MADCA_HUMAN	Q	262;254;246;238	ENSP00000215637:P238Q	ENSP00000215637:P238Q	P	+	2	0	MADCAM1	452714	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.794000	0.04584	-0.567000	0.06046	-0.145000	0.13849	CCG		0.667	MADCAM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451884.1	NM_130760		A	501714	C	A	501714	3	1	745	1	0	0	0	0	1	0	0	0	9153	652	23	4	727	4	MADCAM1	19	501714	Missense_Mutation	SNP	C	TCGA-KO-8404-01A-11D-2310-10		501714	58627269	122	43676											
C3	718	broad.mit.edu	37	19	6679165	6679166	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr19:6679165_6679166insC	ENST00000245907.6	-	38	4692_4693	c.4600_4601insG	c.(4600-4602)gacfs	p.D1534fs	C3_ENST00000599668.1_5'UTR	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1534	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)	ACAGGCCTTGTCCAGCCGTTCT	0.55																																																0																																										SO:0001589	frameshift_variant	718			J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"Complement system", "Endogenous ligands"	1318	protein-coding gene	gene with protein product	"C3a anaphylatoxin", "complement component C3a", "complement component C3b", "prepro-C3"	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.4601dupG	19.37:g.6679167_6679167dupC	ENSP00000245907:p.Asp1534fs		A7E236	Frame_Shift_Ins	INS	ENST00000245907.6	37	CCDS32883.1																																																																																				0.55	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		C	6679166	-	C	6679165	7	5	745	1	0	1	1	0	0	0	0	0	2206	1667	58	0	406	0	C3	19	6679165	Frame_Shift_Ins	INS	-	TCGA-KO-8404-01A-11D-2310-10	6177451	6679165	52449818	123	43677											
PODNL1	79883	broad.mit.edu	37	19	14044085	14044087	+	In_Frame_Del	DEL	CCC	CCC	-			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	CCC	CCC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr19:14044085_14044087delCCC	ENST00000339560.5	-	8	1243_1245	c.970_972delGGG	c.(970-972)gggdel	p.G324del	PODNL1_ENST00000254320.3_In_Frame_Del_p.G242del|PODNL1_ENST00000538371.2_In_Frame_Del_p.G322del|PODNL1_ENST00000538517.2_In_Frame_Del_p.G233del	NM_024825.3	NP_079101.3	Q6PEZ8	PONL1_HUMAN	podocan-like 1	324	Leu-rich.					proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)			GCCCTGAGCTCCCCAGCTGGTTG	0.714																																																0									,,	8,3936		1,6,1965					,,	-9.3	0			6	17,7683		8,1,3841	no	coding,coding,coding	PODNL1	NM_024825.3,NM_001146255.1,NM_001146254.1	,,	9,7,5806	A1A1,A1R,RR		0.2208,0.2028,0.2147	,,	,,		25,11619				SO:0001651	inframe_deletion	79883			AK027100	CCDS12300.1, CCDS54225.1, CCDS54226.1	19p13.12	2008-02-05							26275	protein-coding gene	gene with protein product						12477932	Standard	NM_024825		Approved	FLJ23447, SLRR5B	uc010xnj.2	Q6PEZ8		ENST00000339560.5:c.970_972delGGG	19.37:g.14044085_14044087delCCC	ENSP00000345175:p.Gly324del		B7Z564|Q9H5G9	In_Frame_Del	DEL	ENST00000339560.5	37	CCDS12300.1																																																																																				0.714	PODNL1-003	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457967.1	NM_024825		-	14044087	CCC	-	14044085	7	5	745	1	0	1	0	1	0	0	0	0	12181	842	30	0	570	0	PODNL1	19	14044085	In_Frame_Del	DEL	CCC	TCGA-KO-8404-01A-11D-2310-10	7364920	14044085	45084898	124	43678											
GTPBP3	84705	mdanderson.org	37	19	17448961	17448961	+	Silent	SNP	A	A	C	rs1864112	byFrequency	TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr19:17448961A>C	ENST00000324894.8	+	2	266	c.198A>C	c.(196-198)acA>acC	p.T66T	GTPBP3_ENST00000600625.1_Silent_p.T66T|GTPBP3_ENST00000358792.7_Silent_p.T66T|GTPBP3_ENST00000361619.5_Silent_p.T88T|GTPBP3_ENST00000598038.1_3'UTR	NM_032620.3|NM_133644.3	NP_116009.2|NP_598399.2	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial)	66					tRNA modification (GO:0006400)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						GAATTCTCACAGCACCCCGAG	0.711													G|||	3123	0.623602	0.8669	0.4885	5008	,	,		13513	0.2956		0.7217	False		,,,				2504	0.6278															0								G	,,,	3732,640		1602,528,56	12	15	14		198,264,198,198	-3.6	0.6	19	dbSNP_92	14	6056,2504		2166,1724,390	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	GTPBP3	NM_001128855.2,NM_001195422.1,NM_032620.3,NM_133644.3	,,,	3768,2252,446	CC,CA,AA		29.2523,14.6386,24.3118	,,,	66/472,88/515,66/493,66/525	17448961	9788,3144	2186	4280	6466	SO:0001819	synonymous_variant	84705			AF360742	CCDS32950.1, CCDS32951.1, CCDS56088.1, CCDS59364.1	19p13.2	2008-02-05				ENSG00000130299			14880	protein-coding gene	gene with protein product		608536				1290633	Standard	NM_001128855		Approved	MSS1, THDF1, GTPBG3, MTGP1, FLJ14700	uc010xpo.2	Q969Y2		ENST00000324894.8:c.198A>C	19.37:g.17448961A>C			A6NFH1|A6NIG5|A6NKR4|A8K7B4|B7Z4V8|Q8TCY6|Q8WUW9|Q969G4|Q9BX61	Silent	SNP	ENST00000324894.8	37	CCDS32951.1																																																																																				0.711	GTPBP3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463624.1	NM_032620		C	17448961	A	C	17448961	2	2	745	1	0	0	0	0	0	0	0	1	6883	175	7	5		5	GTPBP3	19	17448961	Silent	SNP	A	TCGA-KO-8404-01A-11D-2310-10	3404876	17448961	41680022	125	43679											
RPL18A	6142	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	19	17972198	17972198	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr19:17972198G>A	ENST00000222247.5	+	2	196	c.115G>A	c.(115-117)Gtc>Atc	p.V39I	SNORA68_ENST00000384437.1_RNA|RPL18A_ENST00000599870.1_Missense_Mutation_p.V10I|RPL18A_ENST00000600147.1_Missense_Mutation_p.V39I|RPL18A_ENST00000599898.1_Intron	NM_000980.3	NP_000971.1	Q02543	RL18A_HUMAN	ribosomal protein L18a	39					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)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						TAATCATGTCGTCGCCAAGTC	0.552																																																0													40	39	39					19																	17972198		2202	4279	6481	SO:0001583	missense	6142			AB007175	CCDS12367.1	19p13.11	2011-04-06			ENSG00000105640	ENSG00000105640		"L ribosomal proteins"	10311	protein-coding gene	gene with protein product	"60S ribosomal protein L18a", "ribosomal protein L18a-like protein"	604178				9582194	Standard	NM_000980		Approved	L18A	uc002nhp.3	Q02543		ENST00000222247.5:c.115G>A	19.37:g.17972198G>A	ENSP00000222247:p.Val39Ile			Missense_Mutation	SNP	ENST00000222247.5	37	CCDS12367.1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.851096	0.32699	.	.	ENSG00000105640	ENST00000420197;ENST00000222247	.	.	.	4.11	4.11	0.48088	Ribosomal protein L18a/LX (1);	0.000000	0.64402	U	0.000001	T	0.50000	0.1590	L	0.51422	1.61	0.80722	D	1	B	0.31519	0.327	B	0.27380	0.079	T	0.52801	-0.8527	9	0.38643	T	0.18	.	14.229	0.65879	0.0:0.0:1.0:0.0	.	39	Q02543	RL18A_HUMAN	I	39	.	ENSP00000222247:V39I	V	+	1	0	RPL18A	17833198	1.000000	0.71417	0.139000	0.22197	0.018000	0.09664	9.533000	0.98059	2.019000	0.59389	0.563000	0.77884	GTC		0.552	RPL18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466679.1	NM_000980		A	17972198	G	A	17972198	3	1	745	1	0	0	0	0	1	0	0	0	13571	1145	40	1	121	1	RPL18A	19	17972198	Missense_Mutation	SNP	G	TCGA-KO-8404-01A-11D-2310-10	523237	17972198	41156785	126	43680											
LRRC25	126364	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	19	18507174	18507174	+	Silent	SNP	C	C	T			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr19:18507174C>T	ENST00000339007.3	-	1	1253	c.600G>A	c.(598-600)gaG>gaA	p.E200E	LRRC25_ENST00000595840.1_Silent_p.E200E	NM_145256.2	NP_660299.2	Q8N386	LRC25_HUMAN	leucine rich repeat containing 25	200						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						GTTTGTTCAGCTCCCGGCTTC	0.677																																																0													22	25	24					19																	18507174		2202	4300	6502	SO:0001819	synonymous_variant	126364			AK095435	CCDS12377.1	19p13.11	2013-09-20			ENSG00000175489	ENSG00000175489			29806	protein-coding gene	gene with protein product		607518				12384430	Standard	NM_145256		Approved	MAPA, FLJ38116	uc002niw.3	Q8N386	OTTHUMG00000183361	ENST00000339007.3:c.600G>A	19.37:g.18507174C>T			Q6IQ00|Q8N9A5	Silent	SNP	ENST00000339007.3	37	CCDS12377.1																																																																																				0.677	LRRC25-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466342.1	NM_145256		T	18507174	C	T	18507174	2	4	745	1	0	0	0	0	0	0	0	1	8982	796	28	2		2	LRRC25	19	18507174	Silent	SNP	C	TCGA-KO-8404-01A-11D-2310-10	534976	18507174	40621809	127	43681											
ZNF626	199777	mdanderson.org	37	19	20807270	20807270	+	Silent	SNP	A	A	G	rs547337333	byFrequency	TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr19:20807270A>G	ENST00000601440.1	-	4	1559	c.1413T>C	c.(1411-1413)caT>caC	p.H471H	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	471					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|lung(3)|skin(1)	6						GAATTTTCTTATGTGTAGTAA	0.388													a|||	3193	0.63758	0.3517	0.7767	5008	,	,		9279	0.7411		0.8082	False		,,,				2504	0.6431															0													37	18	24					19																	20807270		1869	3648	5517	SO:0001819	synonymous_variant	199777			BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"Zinc fingers, C2H2-type", "-"	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.1413T>C	19.37:g.20807270A>G			Q8N8T4|Q96QM1	Silent	SNP	ENST00000601440.1	37	CCDS42535.1																																																																																				0.388	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2	NM_145297		G	20807270	A	G	20807270	2	3	745	1	0	0	0	0	0	0	0	1	18055	446	16	3		3	ZNF626	19	20807270	Silent	SNP	A	TCGA-KO-8404-01A-11D-2310-10	2300096	20807270	38321713	128	43682											
UQCRFS1	7386	broad.mit.edu;mdanderson.org;bcgsc.ca	37	19	29698692	29698692	+	Missense_Mutation	SNP	C	C	G			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr19:29698692C>G	ENST00000304863.4	-	2	1010	c.588G>C	c.(586-588)agG>agC	p.R196S		NM_006003.2	NP_005994.2	P47985	UCRI_HUMAN	ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1	196	Rieske. {ECO:0000255|PROSITE- ProRule:PRU00628}.				cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Breast(6;0.0545)|Esophageal squamous(110;0.239)		Lung(7;0.092)			GCTGTGGGTCCCTCAACTGTG	0.458																																																0													103	111	108					19																	29698692		2203	4300	6503	SO:0001583	missense	7386			BC010035	CCDS12415.1	19q12	2011-07-04			ENSG00000169021	ENSG00000169021	1.10.2.2	"Mitochondrial respiratory chain complex / Complex III"	12587	protein-coding gene	gene with protein product	"cytochrome b-c1 complex subunit 5"	191327				8088805	Standard	NM_006003		Approved	RIS1, RIP1, UQCR5, RISP	uc002nsd.2	P47985		ENST00000304863.4:c.588G>C	19.37:g.29698692C>G	ENSP00000306397:p.Arg196Ser		A8K519|Q6NVX5|Q9UPH2	Missense_Mutation	SNP	ENST00000304863.4	37	CCDS12415.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.178721	0.38511	.	.	ENSG00000169021	ENST00000304863	T	0.50813	0.73	5.42	3.17	0.36434	Ubiquinol-cytochrome c reductase, iron-sulphur subunit (1);Rieske [2Fe-2S] iron-sulphur domain (4);	0.000000	0.85682	D	0.000000	T	0.68787	0.3039	M	0.87038	2.855	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.72740	-0.4202	10	0.87932	D	0	.	9.3534	0.38151	0.0:0.7315:0.0:0.2685	.	196	P47985	UCRI_HUMAN	S	196	ENSP00000306397:R196S	ENSP00000306397:R196S	R	-	3	2	UQCRFS1	34390532	0.930000	0.31532	1.000000	0.80357	0.347000	0.29111	0.025000	0.13577	1.292000	0.44672	0.462000	0.41574	AGG		0.458	UQCRFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458563.1	NM_006003		G	29698692	C	G	29698692	3	3	745	1	0	0	0	0	1	0	0	0	17026	622	22	4	240	4	UQCRFS1	19	29698692	Missense_Mutation	SNP	C	TCGA-KO-8404-01A-11D-2310-10	8891422	29698692	29430291	129	43683											
CYP2F1	1572	mdanderson.org	37	19	41633809	41633809	+	Missense_Mutation	SNP	G	G	A	rs139951793	byFrequency	TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr19:41633809G>A	ENST00000331105.2	+	10	1370	c.1298G>A	c.(1297-1299)cGc>cAc	p.R433H		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	433					naphthalene metabolic process (GO:0018931)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|trichloroethylene metabolic process (GO:0018979)|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, 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)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						CCTGCAGGGCGCCGTCTGTGC	0.612																																																0													14	16	15					19																	41633809		2197	4288	6485	SO:0001583	missense	1572			J02906	CCDS12572.1	19q13.1-q13.2	2008-02-05	2003-01-14		ENSG00000197446	ENSG00000197446		"Cytochrome P450s"	2632	protein-coding gene	gene with protein product		124070	"cytochrome P450, subfamily IIF, polypeptide 1"	CYP2F			Standard	NM_000774		Approved		uc002opu.1	P24903	OTTHUMG00000167412	ENST00000331105.2:c.1298G>A	19.37:g.41633809G>A	ENSP00000333534:p.Arg433His		A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Missense_Mutation	SNP	ENST00000331105.2	37	CCDS12572.1	.	.	.	.	.	.	.	.	.	.	g	12.45	1.941510	0.34283	.	.	ENSG00000197446	ENST00000331105	T	0.70631	-0.5	3.1	2.05	0.26809	Cytochrome P450, conserved site (1);	0.176601	0.41194	U	0.000921	T	0.56202	0.1969	L	0.58510	1.815	0.09310	N	1	P	0.40515	0.719	B	0.29862	0.108	T	0.55661	-0.8106	10	0.87932	D	0	.	5.1896	0.15203	0.2785:0.0:0.7215:0.0	.	433	P24903	CP2F1_HUMAN	H	433	ENSP00000333534:R433H	ENSP00000333534:R433H	R	+	2	0	CYP2F1	46325649	0.000000	0.05858	0.010000	0.14722	0.328000	0.28507	0.452000	0.21795	0.529000	0.28599	0.089000	0.15464	CGC		0.612	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394527.2			A	41633809	G	A	41633809	3	1	745	1	0	0	0	0	1	0	0	0	4173	1087	38	1	1332	1	CYP2F1	19	41633809	Missense_Mutation	SNP	G	TCGA-KO-8404-01A-11D-2310-10	11935117	41633809	17495174	130	43684											
ZNF285	26974	mdanderson.org	37	19	44891043	44891043	+	Missense_Mutation	SNP	G	G	T	rs77661661		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr19:44891043G>T	ENST00000330997.4	-	4	1428	c.1364C>A	c.(1363-1365)cCa>cAa	p.P455Q	ZNF285_ENST00000544719.2_Missense_Mutation_p.P455Q|ZNF285_ENST00000591679.1_Missense_Mutation_p.P462Q|CTC-512J12.6_ENST00000588212.1_Intron	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	455					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P455Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						GCATTTGTATGGTTTCTCCCC	0.448																																																1	Substitution - Missense(1)	skin(1)																																								SO:0001583	missense	26974			AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"Zinc fingers, C2H2-type", "-"	13079	protein-coding gene	gene with protein product			"zinc finger protein 285A"	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.1364C>A	19.37:g.44891043G>T	ENSP00000333595:p.Pro455Gln		Q17RJ3|Q6B0A8|Q6ISR5	Missense_Mutation	SNP	ENST00000330997.4	37	CCDS12638.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.224441	0.58668	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	T	0.17213	2.29	3.36	3.36	0.38483	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41834	0.1176	M	0.75447	2.3	0.30665	N	0.754012	D;B	0.89917	1.0;0.012	D;B	0.83275	0.996;0.04	T	0.45323	-0.9269	9	0.62326	D	0.03	.	13.918	0.63914	0.0:0.0:1.0:0.0	.	479;455	B7ZLR9;Q96NJ3	.;ZN285_HUMAN	Q	478;455	ENSP00000333595:P455Q	ENSP00000333595:P455Q	P	-	2	0	ZNF285	49582883	1.000000	0.71417	0.862000	0.33874	0.982000	0.71751	5.120000	0.64685	1.598000	0.50083	0.298000	0.19748	CCA		0.448	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354		T	44891043	G	T	44891043	3	4	745	1	0	0	0	0	1	0	0	0	17827	1348	47	4	412	4	ZNF285	19	44891043	Missense_Mutation	SNP	G	TCGA-KO-8404-01A-11D-2310-10	3257234	44891043	14237940	131	43685											
LMTK3	114783	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	49001439	49001439	+	Nonsense_Mutation	SNP	C	C	A			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr19:49001439C>A	ENST00000600059.1	-	11	3114	c.2887G>T	c.(2887-2889)Gag>Tag	p.E963*	LMTK3_ENST00000270238.3_Nonsense_Mutation_p.E992*			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	963	Pro-rich.				negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GGTGTCAGCTCCCCATTCTCC	0.652																																																0													90	95	93					19																	49001439		1891	4117	6008	SO:0001587	stop_gained	114783			AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 101"						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.2887G>T	19.37:g.49001439C>A	ENSP00000472020:p.Glu963*		Q4G0U1	Nonsense_Mutation	SNP	ENST00000600059.1	37		.	.	.	.	.	.	.	.	.	.	C	29.8	5.037567	0.93630	.	.	ENSG00000142235	ENST00000270238	.	.	.	3.86	3.86	0.44501	.	0.218940	0.27631	U	0.018507	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	11.7016	0.51575	0.0:1.0:0.0:0.0	.	.	.	.	X	992	.	ENSP00000270238:E992X	E	-	1	0	LMTK3	53693251	1.000000	0.71417	0.999000	0.59377	0.024000	0.10985	3.012000	0.49575	1.900000	0.55004	0.449000	0.29647	GAG		0.652	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000466137.1	NM_052895		A	49001439	C	A	49001439	4	1	745	1	0	0	0	0	0	1	0	0	8862	864	30	4	1515	4	LMTK3	19	49001439	Nonsense_Mutation	SNP	C	TCGA-KO-8404-01A-11D-2310-10	4110396	49001439	10127544	132	43686											
C19orf41	126123	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	50662801	50662801	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr19:50662801G>A	ENST00000293405.3	-	3	344	c.344C>T	c.(343-345)gCg>gTg	p.A115V		NM_152358.2	NP_689571.2	Q6UXV1	IZUM2_HUMAN	IZUMO family member 2	115						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						GATCACATTCGCCCTGAGGGT	0.493																																																0													73	72	72					19																	50662801		1873	4106	5979	SO:0001583	missense	126123			AY358196	CCDS12792.2	19q13.33	2014-02-17	2010-07-29	2010-07-29	ENSG00000161652	ENSG00000161652		"-"	28518	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 41"	C19orf41		19658160, 22957301	Standard	XM_006723007		Approved	MGC33947, SCRL	uc002prp.1	Q6UXV1	OTTHUMG00000074063	ENST00000293405.3:c.344C>T	19.37:g.50662801G>A	ENSP00000293405:p.Ala115Val		Q5GRG3|Q5GRG4|Q6ZNM5|Q8NHR8	Missense_Mutation	SNP	ENST00000293405.3	37	CCDS12792.2	.	.	.	.	.	.	.	.	.	.	G	11.26	1.585669	0.28268	.	.	ENSG00000161652	ENST00000293405;ENST00000377000	T	0.23348	1.91	4.37	-5.46	0.02608	.	1.836250	0.02694	N	0.111039	T	0.10294	0.0252	N	0.14661	0.345	0.09310	N	1	P	0.45672	0.864	B	0.32624	0.149	T	0.23797	-1.0178	10	0.62326	D	0.03	.	2.4691	0.04560	0.1237:0.3936:0.234:0.2488	.	115	Q6UXV1	IZUM2_HUMAN	V	115	ENSP00000293405:A115V	ENSP00000293405:A115V	A	-	2	0	IZUMO2	55354613	0.000000	0.05858	0.000000	0.03702	0.072000	0.16883	-0.260000	0.08708	-1.189000	0.02702	-0.314000	0.08810	GCG		0.493	IZUMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157232.1	NM_152358		A	50662801	G	A	50662801	3	1	745	1	0	0	0	0	1	0	0	0	1926	1087	38	1	341	1	C19orf41	19	50662801	Missense_Mutation	SNP	G	TCGA-KO-8404-01A-11D-2310-10	1661362	50662801	8466182	133	43687											
ZNF468	90333	mdanderson.org	37	19	53352380	53352380	+	Silent	SNP	C	C	T	rs568961044	byFrequency	TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr19:53352380C>T	ENST00000595646.1	-	3	222	c.102G>A	c.(100-102)agG>agA	p.R34R	ZNF468_ENST00000243639.4_Silent_p.R34R|ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000390651.4_5'UTR|ZNF468_ENST00000396409.4_5'UTR			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	34	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)		GCATCACGTCCCTGTATAAAG	0.473													-|||	6	0.00119808	0.0008	0.0	5008	,	,		18410	0.001		0.004	False		,,,				2504	0.0															0													147	149	148					19																	53352380		2203	4300	6503	SO:0001819	synonymous_variant	90333			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.102G>A	19.37:g.53352380C>T			A8MV20|Q5CZB8|Q5VIY4|Q68DI7	Silent	SNP	ENST00000595646.1	37	CCDS33094.1																																																																																				0.473	ZNF468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463098.1	NM_001008801		T	53352380	C	T	53352380	2	4	745	1	0	0	0	0	0	0	0	1	17933	622	22	2		2	ZNF468	19	53352380	Silent	SNP	C	TCGA-KO-8404-01A-11D-2310-10	2689579	53352380	5776603	134	43688											
KIR2DL1	3811	mdanderson.org	37	19	55286795	55286795	+	Intron	SNP	T	T	C	rs12982263	byFrequency	TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr19:55286795T>C	ENST00000538269.1	+	2	61				KIR2DL3_ENST00000434419.2_Intron|KIR2DL1_ENST00000336077.6_Silent_p.A183A|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR2DL1_ENST00000291633.7_Silent_p.A183A|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000402254.2_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)		CATTCCAGGCTGACTTTCCTC	0.582													.|||	869	0.173522	0.2201	0.147	5008	,	,		14338	0.0556		0.1362	False		,,,				2504	0.2894															0								T		409,3801		116,177,1812	126	140	135		549	-2.2	0	19	dbSNP_121	135	403,7953		122,159,3897	no	coding-synonymous	KIR2DL1	NM_014218.2		238,336,5709	CC,CT,TT		4.8229,9.715,6.4619		183/349	55286795	812,11754	2105	4178	6283	SO:0001627	intron_variant	3802			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.35-42194T>C	19.37:g.55286795T>C			O43473|Q14946|Q16541	Silent	SNP	ENST00000538269.1	37																																																																																					0.582	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_013289		C	55286795	T	C	55286795	1	2	745	0	1	0	0	0	0	0	0	0	8318	1567	55	3		3	KIR2DL1	19	55286795	Intron	SNP	T	TCGA-KO-8404-01A-11D-2310-10	1934415	55286795	3842188	135	43689											
SLC27A5	10998	broad.mit.edu	37	19	59022739	59022740	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr19:59022739_59022740insC	ENST00000263093.2	-	1	692_693	c.583_584insG	c.(583-585)gccfs	p.A195fs	SLC27A5_ENST00000601355.1_Intron	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	195					bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|ketone body biosynthetic process (GO:0046951)|plasma membrane long-chain fatty acid transport (GO:0015911)|small molecule metabolic process (GO:0044281)|triglyceride mobilization (GO:0006642)|very long-chain fatty acid metabolic process (GO:0000038)	basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|protein complex (GO:0043234)	ATP binding (GO:0005524)|cholate-CoA ligase activity (GO:0047747)|fatty acid transporter activity (GO:0015245)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		GCCCAGCTTGGCCAGCCCCAGC	0.688																																																0																																										SO:0001589	frameshift_variant	10998			AF064255	CCDS12983.1	19q13.43	2013-07-15			ENSG00000083807	ENSG00000083807		"Acyl-CoA synthetase family", "Solute carriers"	10999	protein-coding gene	gene with protein product	"fatty-acid-Coenzyme A ligase, very long-chain 3"	603314				10479480, 10749848	Standard	NM_012254		Approved	FATP5, VLACSR, VLCS-H2, VLCSH2, FACVL3, FLJ22987, ACSVL6, ACSB	uc002qtc.2	Q9Y2P5	OTTHUMG00000183543	ENST00000263093.2:c.584dupG	19.37:g.59022741_59022741dupC	ENSP00000263093:p.Ala195fs		B3KVP6|B4DPQ1	Frame_Shift_Ins	INS	ENST00000263093.2	37	CCDS12983.1																																																																																				0.688	SLC27A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467060.1	NM_012254		C	59022740	-	C	59022739	7	5	745	1	0	1	1	0	0	0	0	0	14535	1203	42	0	1528	0	SLC27A5	19	59022739	Frame_Shift_Ins	INS	-	TCGA-KO-8404-01A-11D-2310-10	3735944	59022739	106244	136	43690											
FAM83C	128876	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	20	33874426	33874426	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr20:33874426C>T	ENST00000374408.3	-	4	2252	c.2156G>A	c.(2155-2157)cGg>cAg	p.R719Q	EIF6_ENST00000374450.3_5'Flank|EIF6_ENST00000374443.3_5'Flank|FAM83C-AS1_ENST00000429167.1_RNA|EIF6_ENST00000374436.3_5'Flank|EIF6_ENST00000462894.1_5'Flank	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	719										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CAGGGTCAGCCGTTTCTCATC	0.557																																																0													104	96	99					20																	33874426		2203	4300	6503	SO:0001583	missense	128876			AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998			16121	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 128"	C20orf128			Standard	NM_178468		Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332	ENST00000374408.3:c.2156G>A	20.37:g.33874426C>T	ENSP00000363529:p.Arg719Gln		Q14D67|Q5JWN6|Q8N276	Missense_Mutation	SNP	ENST00000374408.3	37	CCDS13251.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.387130	0.82902	.	.	ENSG00000125998	ENST00000374408	T	0.22539	1.95	4.93	4.93	0.64822	.	0.000000	0.64402	D	0.000006	T	0.40956	0.1138	M	0.67700	2.07	0.39146	D	0.962147	D	0.76494	0.999	P	0.59115	0.852	T	0.42732	-0.9434	10	0.87932	D	0	-2.9794	15.6748	0.77307	0.0:1.0:0.0:0.0	.	719	Q9BQN1	FA83C_HUMAN	Q	719	ENSP00000363529:R719Q	ENSP00000363529:R719Q	R	-	2	0	FAM83C	33337840	1.000000	0.71417	1.000000	0.80357	0.739000	0.42172	3.439000	0.52878	2.472000	0.83506	0.462000	0.41574	CGG		0.557	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078854.3			T	33874426	C	T	33874426	3	4	745	1	0	0	0	0	1	0	0	0	5637	652	23	1	91	1	FAM83C	20	33874426	Missense_Mutation	SNP	C	TCGA-KO-8404-01A-11D-2310-10		33874426	29151094	137	43691											
LPIN3	64900	broad.mit.edu	37	20	39984606	39984608	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	TTG	TTG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr20:39984606_39984608delTTG	ENST00000373257.3	+	14	1826_1828	c.1735_1737delTTG	c.(1735-1737)ttgdel	p.L579del		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	579					fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|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)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				GATCCCCTCCTTGccaccctcca	0.586																																																0																																										SO:0001651	inframe_deletion	64900			AL132654	CCDS33469.1	20q11.2-q12	2006-04-04	2002-05-23		ENSG00000132793	ENSG00000132793			14451	protein-coding gene	gene with protein product		605520	"lipin 3-like"	LIPN3L		11138012	Standard	XM_005260515		Approved	SMP2	uc002xjx.3	Q9BQK8	OTTHUMG00000033056	ENST00000373257.3:c.1735_1737delTTG	20.37:g.39984606_39984608delTTG	ENSP00000362354:p.Leu579del		B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	In_Frame_Del	DEL	ENST00000373257.3	37	CCDS33469.1																																																																																				0.586	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080393.1	NM_022896		-	39984608	TTG	-	39984606	7	5	745	1	0	1	0	1	0	0	0	0	8922	1606	56	0	1785	0	LPIN3	20	39984606	In_Frame_Del	DEL	TTG	TCGA-KO-8404-01A-11D-2310-10	6110180	39984606	23040914	138	43692											
CTCFL	140690	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	20	56087702	56087702	+	Silent	SNP	A	A	G			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr20:56087702A>G	ENST00000608263.1	-	7	2098	c.1437T>C	c.(1435-1437)acT>acC	p.T479T	CTCFL_ENST00000539382.1_Silent_p.T274T|CTCFL_ENST00000608425.1_Silent_p.T479T|CTCFL_ENST00000432255.2_Intron|CTCFL_ENST00000609232.1_Silent_p.T479T|CTCFL_ENST00000243914.3_Silent_p.T479T|CTCFL_ENST00000502686.2_Silent_p.T217T|CTCFL_ENST00000608903.1_Silent_p.T217T|CTCFL_ENST00000423479.3_Silent_p.T479T|CTCFL_ENST00000371196.2_Silent_p.T479T|CTCFL_ENST00000608440.1_Silent_p.T479T|CTCFL_ENST00000429804.3_Silent_p.T429T|CTCFL_ENST00000422869.2_Silent_p.T479T|CTCFL_ENST00000608858.1_5'Flank|CTCFL_ENST00000433949.3_Silent_p.T274T	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	479					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)			CATTCTTATGAGTTTTCTGGT	0.453																																																0													114	96	102					20																	56087702		2203	4300	6503	SO:0001819	synonymous_variant	140690				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.1437T>C	20.37:g.56087702A>G			A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Silent	SNP	ENST00000608263.1	37	CCDS13459.1																																																																																				0.453	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618		G	56087702	A	G	56087702	2	3	745	1	0	0	0	0	0	0	0	1	4003	291	11	3		3	CTCFL	20	56087702	Silent	SNP	A	TCGA-KO-8404-01A-11D-2310-10	16103096	56087702	6937818	139	43693											
KCNQ2	3785	broad.mit.edu	37	20	62076054	62076055	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr20:62076054_62076055insC	ENST00000359125.2	-	4	821_822	c.647_648insG	c.(646-648)ggcfs	p.G216fs	KCNQ2_ENST00000370224.1_Frame_Shift_Ins_p.G216fs|KCNQ2_ENST00000354587.3_Frame_Shift_Ins_p.G216fs|KCNQ2_ENST00000357249.2_Frame_Shift_Ins_p.G216fs|KCNQ2_ENST00000359689.1_Frame_Shift_Ins_p.G216fs|KCNQ2_ENST00000344425.5_Frame_Shift_Ins_p.G216fs|KCNQ2_ENST00000344462.4_Frame_Shift_Ins_p.G216fs|KCNQ2_ENST00000360480.3_Frame_Shift_Ins_p.G216fs	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	216					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	GCTTCCAGGTGCCTCCCCGCCG	0.688																																																0																																										SO:0001589	frameshift_variant	3785			AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.648dupG	20.37:g.62076056_62076056dupC	ENSP00000352035:p.Gly216fs		O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Frame_Shift_Ins	INS	ENST00000359125.2	37	CCDS13520.1																																																																																				0.688	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080353.1	NM_172109		C	62076055	-	C	62076054	7	5	745	1	0	1	1	0	0	0	0	0	8085	1306	46	0	2090	0	KCNQ2	20	62076054	Frame_Shift_Ins	INS	-	TCGA-KO-8404-01A-11D-2310-10	5988352	62076054	949466	140	43694											
OR11H1	81061	mdanderson.org	37	22	16449605	16449605	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr22:16449605T>C	ENST00000252835.4	-	1	200	c.200A>G	c.(199-201)gAc>gGc	p.D67G		NM_001005239.1	NP_001005239.1	Q8NG94	O11H1_HUMAN	olfactory receptor, family 11, subfamily H, member 1	67						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(3)|lung(4)|skin(1)	11	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.208)		Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211)		AAGTCGCCGGTCACACCACAG	0.433																																																0																																										SO:0001583	missense	81061			AP000535, AF399611	CCDS74807.1	22q11.1	2012-08-09			ENSG00000130538	ENSG00000130538		"GPCR / Class A : Olfactory receptors"	15404	protein-coding gene	gene with protein product						12213199	Standard	NM_001005239		Approved	OR22-1	uc011agd.2	Q8NG94	OTTHUMG00000030069	ENST00000252835.4:c.200A>G	22.37:g.16449605T>C	ENSP00000252835:p.Asp67Gly		Q6IEX0|Q96R32	Missense_Mutation	SNP	ENST00000252835.4	37	CCDS33594.1	.	.	.	.	.	.	.	.	.	.	t	3.067	-0.192032	0.06299	.	.	ENSG00000130538	ENST00000252835	T	0.02890	4.12	2.19	1.07	0.20283	GPCR, rhodopsin-like superfamily (1);	0.155040	0.28653	N	0.014586	T	0.07413	0.0187	M	0.92833	3.35	0.09310	N	1	B	0.28584	0.216	B	0.32342	0.144	T	0.13469	-1.0508	10	0.87932	D	0	.	6.1983	0.20561	0.0:0.1525:0.0:0.8475	.	67	Q8NG94	O11H1_HUMAN	G	67	ENSP00000252835:D67G	ENSP00000252835:D67G	D	-	2	0	OR11H1	14829605	0.001000	0.12720	0.588000	0.28705	0.057000	0.15508	0.807000	0.27140	0.043000	0.15746	-1.786000	0.00637	GAC		0.433	OR11H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074923.2	NM_001005239		C	16449605	T	C	16449605	3	2	745	1	0	0	0	0	1	0	0	0	10928	1667	58	3	782	3	OR11H1	22	16449605	Missense_Mutation	SNP	T	TCGA-KO-8404-01A-11D-2310-10		16449605	34854961	141	43695											
RIMBP3	85376	broad.mit.edu	37	22	20458628	20458629	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr22:20458628_20458629insG	ENST00000426804.1	-	1	3157_3158	c.2673_2674insC	c.(2671-2676)tccaacfs	p.N892fs	RN7SKP131_ENST00000363006.1_RNA	NM_015672.1	NP_056487.1	Q9UFD9	RIM3A_HUMAN	RIMS binding protein 3	892	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.									breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			TCCACGAAGTTGGAGGGCACCA	0.604																																																0																																										SO:0001589	frameshift_variant	85376			AB051453	CCDS46665.1	22q11.21	2014-05-06			ENSG00000196622	ENSG00000275793			29344	protein-coding gene	gene with protein product		612699				11258795, 17855024	Standard	NM_015672		Approved	KIAA1666, RIMBP3.1, RIMBP3A	uc002zsd.4	Q9UFD9	OTTHUMG00000188355	ENST00000426804.1:c.2674dupC	22.37:g.20458630_20458630dupG	ENSP00000391564:p.Asn892fs		Q8IYP7|Q9BY94|Q9UFQ5	Frame_Shift_Ins	INS	ENST00000426804.1	37	CCDS46665.1																																																																																				0.604	RIMBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318945.2	NM_015672		G	20458629	-	G	20458628	7	5	745	1	0	1	1	0	0	0	0	0	13370	1812	63	0	2249	0	RIMBP3	22	20458628	Frame_Shift_Ins	INS	-	TCGA-KO-8404-01A-11D-2310-10	4009023	20458628	30845938	142	43696											
KDELR3	11015	hgsc.bcm.edu	37	22	38877304	38877304	+	Frame_Shift_Del	DEL	A	A	-	rs144678116	byFrequency	TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr22:38877304delA	ENST00000216014.4	+	4	611	c.439delA	c.(439-441)atafs	p.I147fs	KDELR3_ENST00000409006.3_Frame_Shift_Del_p.I147fs|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	147					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)					GGCTGAGACCATAACTACTCA	0.493																																					Ovarian(11;103 529 24120 28493 32980)											0													152	145	147					22																	38877304		2203	4300	6503	SO:0001589	frameshift_variant	11015			AL035081	CCDS13972.1, CCDS46705.1	22q13	2008-05-02			ENSG00000100196	ENSG00000100196			6306	protein-coding gene	gene with protein product							Standard	NM_006855		Approved		uc003avu.3	O43731	OTTHUMG00000153520	ENST00000216014.4:c.439delA	22.37:g.38877304delA	ENSP00000216014:p.Ile147fs		A8K7T7|B8ZZ26|O95557|Q4V750|Q4V767|Q53FP4|Q53GK1	Frame_Shift_Del	DEL	ENST00000216014.4	37	CCDS13972.1																																																																																				0.493	KDELR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331474.1			-	38877304	A	-	38877304	7	5	745	1	0	1	0	1	0	0	0	0	8123	217	8	0	453	0	KDELR3	22	38877304	Frame_Shift_Del	DEL	A	TCGA-KO-8404-01A-11D-2310-10	18418676	38877304	12427262	143	43697	433	2									
KDELR3	11015	bcgsc.ca	37	22	38877305	38877305	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr22:38877305delA	ENST00000216014.4	+	4	612	c.440delA	c.(439-441)aaafs	p.K147fs	KDELR3_ENST00000409006.3_Frame_Shift_Del_p.K147fs|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	147					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)					GCTGAGACCATAACTACTCAC	0.488																																					Ovarian(11;103 529 24120 28493 32980)											0													152	145	147					22																	38877305		2203	4300	6503	SO:0001589	frameshift_variant	11015			AL035081	CCDS13972.1, CCDS46705.1	22q13	2008-05-02			ENSG00000100196	ENSG00000100196			6306	protein-coding gene	gene with protein product							Standard	NM_006855		Approved		uc003avu.3	O43731	OTTHUMG00000153520	ENST00000216014.4:c.440delA	22.37:g.38877305delA	ENSP00000216014:p.Lys147fs		A8K7T7|B8ZZ26|O95557|Q4V750|Q4V767|Q53FP4|Q53GK1	Frame_Shift_Del	DEL	ENST00000216014.4	37	CCDS13972.1																																																																																				0.488	KDELR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331474.1			-	38877305	A	-	38877305	7	5	745	1	0	1	0	1	0	0	0	0	8123	1406	49	0	454	0	KDELR3	22	38877305	Frame_Shift_Del	DEL	A	TCGA-KO-8404-01A-11D-2310-10	1	38877305	12427261	144	43698	433	2									
RPS6KA3	6197	broad.mit.edu	37	X	20187576	20187576	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chrX:20187576C>T	ENST00000379565.3	-	16	1594	c.1387G>A	c.(1387-1389)Gaa>Aaa	p.E463K	RPS6KA3_ENST00000479809.1_5'UTR|RPS6KA3_ENST00000544447.1_Missense_Mutation_p.E435K|RPS6KA3_ENST00000379548.4_Missense_Mutation_p.E433K|RPS6KA3_ENST00000540702.1_Missense_Mutation_p.E434K	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	463	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|central nervous system development (GO:0007417)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E462fs(1)		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)	ATTTCAATTTCTTCTGTTGGG	0.299																																																1	Complex(1)	breast(1)											164	159	161					X																	20187576		2203	4300	6503	SO:0001583	missense	6197			U08316	CCDS14197.1	Xp22.2-p22.1	2013-06-03	2002-08-29		ENSG00000177189	ENSG00000177189			10432	protein-coding gene	gene with protein product		300075	"ribosomal protein S6 kinase, 90kD, polypeptide 3", "mental retardation, X-linked 19", "Coffin-Lowry syndrome"	MRX19, CLS		8141249, 11896450, 16879200	Standard	XM_005274573		Approved	RSK, RSK2, HU-3	uc004czu.3	P51812	OTTHUMG00000021231	ENST00000379565.3:c.1387G>A	X.37:g.20187576C>T	ENSP00000368884:p.Glu463Lys		B2R9V4|Q4VAP3|Q59H26|Q5JPK8|Q7Z3Z7	Missense_Mutation	SNP	ENST00000379565.3	37	CCDS14197.1	.	.	.	.	.	.	.	.	.	.	C	34	5.345157	0.95807	.	.	ENSG00000177189	ENST00000379565;ENST00000544447;ENST00000379548;ENST00000540702	T;T;T;T	0.73469	-0.75;-0.75;-0.75;-0.75	5.41	5.41	0.78517	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.87346	0.6154	M	0.81239	2.535	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;0.994;1.0;0.998	D	0.88934	0.3375	10	0.87932	D	0	.	18.526	0.90973	0.0:1.0:0.0:0.0	.	434;433;435;463	B4DG22;F5GYC4;B7ZB17;P51812	.;.;.;KS6A3_HUMAN	K	463;435;433;434	ENSP00000368884:E463K;ENSP00000440220:E435K;ENSP00000368865:E433K;ENSP00000444837:E434K	ENSP00000368865:E433K	E	-	1	0	RPS6KA3	20097497	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.715000	0.84713	2.404000	0.81709	0.600000	0.82982	GAA		0.299	RPS6KA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056011.3	NM_004586		T	20187576	C	T	20187576	3	4	745	1	0	0	0	0	1	0	0	0	13658	922	32	2	863	2	RPS6KA3	23	20187576	Missense_Mutation	SNP	C	TCGA-KO-8404-01A-11D-2310-10		20187576	135082984	145	43699											
FAM47B	170062	broad.mit.edu	37	X	34961067	34961068	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chrX:34961067_34961068insC	ENST00000329357.5	+	1	155_156	c.119_120insC	c.(118-123)ttcccgfs	p.FP40fs		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	40										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						CGCCTGAGGTTCCCGCCTGTGG	0.594																																																0																																										SO:0001589	frameshift_variant	170062			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.122dupC	X.37:g.34961070_34961070dupC	ENSP00000328307:p.Phe40fs		Q5JQN5|Q6PIG3	Frame_Shift_Ins	INS	ENST00000329357.5	37	CCDS14236.1																																																																																				0.594	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		C	34961068	-	C	34961067	7	5	745	1	0	1	1	0	0	0	0	0	5572	1783	62	0	121	0	FAM47B	23	34961067	Frame_Shift_Ins	INS	-	TCGA-KO-8404-01A-11D-2310-10	14773491	34961067	120309493	146	43700											
HUWE1	10075	broad.mit.edu;mdanderson.org;bcgsc.ca	37	X	53586462	53586462	+	Missense_Mutation	SNP	G	G	T			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chrX:53586462G>T	ENST00000342160.3	-	56	8225	c.7768C>A	c.(7768-7770)Ctt>Att	p.L2590I	MIRLET7F2_ENST00000385277.1_RNA|HUWE1_ENST00000262854.6_Missense_Mutation_p.L2590I			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2590					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						CTCAGCTGAAGGATGTCAGCA	0.572																																																0													34	29	31					X																	53586462		2203	4300	6503	SO:0001583	missense	10075			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.7768C>A	X.37:g.53586462G>T	ENSP00000340648:p.Leu2590Ile		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.28|19.28	3.797601|3.797601	0.70567|0.70567	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854|ENST00000427052	T;T|.	0.53206|.	0.63;0.63|.	6.08|6.08	6.08|6.08	0.98989|0.98989	.|.	0.000000|.	0.64402|.	D|.	0.000002|.	T|T	0.54367|0.54367	0.1854|0.1854	L|L	0.34521|0.34521	1.04|1.04	0.46478|0.46478	D|D	0.999064|0.999064	P;D|.	0.56035|.	0.956;0.974|.	D;D|.	0.70487|.	0.931;0.969|.	T|T	0.51108|0.51108	-0.8747|-0.8747	10|5	0.52906|.	T|.	0.07|.	.|.	11.6932|11.6932	0.51527|0.51527	0.0833:0.0:0.9167:0.0|0.0833:0.0:0.9167:0.0	.|.	2590;2590|.	Q7Z6Z7;Q7Z6Z7-2|.	HUWE1_HUMAN;.|.	I|H	2590|1623	ENSP00000340648:L2590I;ENSP00000262854:L2590I|.	ENSP00000262854:L2590I|.	L|P	-|-	1|2	0|0	HUWE1|HUWE1	53603187|53603187	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.776000|3.776000	0.55356|0.55356	2.580000|2.580000	0.87095|0.87095	0.600000|0.600000	0.82982|0.82982	CTT|CCT		0.572	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		T	53586462	G	T	53586462	3	4	745	1	0	0	0	0	1	0	0	0	7463	1000	35	4	5468	4	HUWE1	23	53586462	Missense_Mutation	SNP	G	TCGA-KO-8404-01A-11D-2310-10	18625395	53586462	101684098	147	43701											
RAB40A	142684	broad.mit.edu	37	X	102755468	102755469	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chrX:102755468_102755469insC	ENST00000372633.1	-	1	2334_2335	c.216_217insG	c.(214-219)gggcagfs	p.Q73fs	RAB40A_ENST00000304236.1_Frame_Shift_Ins_p.Q73fs|LL0XNC01-250H12.3_ENST00000445990.1_RNA			Q8WXH6	RB40A_HUMAN	RAB40A, member RAS oncogene family	73					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						AATCTTCCCTGCCCCGACGTAT	0.569																																																0																																										SO:0001589	frameshift_variant	142684			AF132748	CCDS35357.1	Xq22.1	2009-08-25			ENSG00000172476	ENSG00000172476		"RAB, member RAS oncogene"	18283	protein-coding gene	gene with protein product						11697911	Standard	NM_080879		Approved	RAR2A, Rar-2	uc004ekk.3	Q8WXH6	OTTHUMG00000022100	ENST00000372633.1:c.217dupG	X.37:g.102755472_102755472dupC	ENSP00000361716:p.Gln73fs		O00407|Q17RQ5|Q6DK06|Q8TF06	Frame_Shift_Ins	INS	ENST00000372633.1	37	CCDS35357.1																																																																																				0.569	RAB40A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057714.1			C	102755469	-	C	102755468	7	5	745	1	0	1	1	0	0	0	0	0	12945	1328	46	0	620	0	RAB40A	23	102755468	Frame_Shift_Ins	INS	-	TCGA-KO-8404-01A-11D-2310-10	49169006	102755468	52515092	148	43702											
USP26	83844	broad.mit.edu	37	X	132161205	132161205	+	Frame_Shift_Del	DEL	A	A	-	rs61758857		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chrX:132161205delA	ENST00000511190.1	-	6	1513	c.1044delT	c.(1042-1044)tttfs	p.F348fs	USP26_ENST00000370832.1_Frame_Shift_Del_p.F348fs|USP26_ENST00000406273.1_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)											1	Deletion - Frameshift(1)	large_intestine(1)	GRCh37	CM077651	USP26	M	rs61758857						35	37	36					X																	132161205		2198	4295	6493	SO:0001589	frameshift_variant	83844			AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"Ubiquitin-specific peptidases"	13485	protein-coding gene	gene with protein product		300309	"ubiquitin specific protease 26"			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.1044delT	X.37:g.132161205delA	ENSP00000423390:p.Phe348fs		B9WRT6|Q5H9H4	Frame_Shift_Del	DEL	ENST00000511190.1	37	CCDS14635.1																																																																																				0.388	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359441.1	NM_031907		-	132161205	A	-	132161205	7	5	745	1	0	1	0	1	0	0	0	0	17062	359	13	0	1700	0	USP26	23	132161205	Frame_Shift_Del	DEL	A	TCGA-KO-8404-01A-11D-2310-10	29405737	132161205	23109355	149	43703											
ENO1	2023	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	1	8923329	8923329	+	Missense_Mutation	SNP	T	T	A			TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr1:8923329T>A	ENST00000234590.4	-	10	1260	c.1141A>T	c.(1141-1143)Atc>Ttc	p.I381F		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	381					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		AGGTCAGCGATGAAGGTATCT	0.557											OREG0013068	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(21;302 608 19946 22210 33560)											0													131	121	124					1																	8923329		2203	4300	6503	SO:0001583	missense	2023			BC022545	CCDS97.1	1p36.2	2010-03-11			ENSG00000074800	ENSG00000074800	4.2.1.11		3350	protein-coding gene	gene with protein product		172430		ENO1L1, MPB1		9653645, 9691177	Standard	NM_001428		Approved	PPH, MBP-1	uc001apj.2	P06733	OTTHUMG00000001773	ENST00000234590.4:c.1141A>T	1.37:g.8923329T>A	ENSP00000234590:p.Ile381Phe	653	B2RD59|P22712|Q16704|Q4TUS4|Q53FT9|Q53HR3|Q658M5|Q6GMP2|Q71V37|Q7Z3V6|Q8WU71|Q96GV1|Q9BT62|Q9UCH6|Q9UM55	Missense_Mutation	SNP	ENST00000234590.4	37	CCDS97.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.297227	0.81025	.	.	ENSG00000074800	ENST00000234590	T	0.61742	0.08	5.46	5.46	0.80206	Enolase, C-terminal (1);	0.048343	0.85682	D	0.000000	D	0.83275	0.5219	H	0.96489	3.83	0.58432	D	0.999999	P;D;D;D;D;D	0.89917	0.614;0.999;1.0;1.0;1.0;1.0	P;D;D;D;D;D	0.85130	0.523;0.995;0.996;0.997;0.991;0.997	D	0.88684	0.3204	10	0.87932	D	0	-27.4565	14.716	0.69269	0.0:0.0:0.0:1.0	.	82;285;219;131;288;381	A4QMW8;E2DRY6;Q9BT62;Q96GV1;P06733-2;P06733	.;.;.;.;.;ENOA_HUMAN	F	381	ENSP00000234590:I381F	ENSP00000234590:I381F	I	-	1	0	ENO1	8845916	1.000000	0.71417	0.992000	0.48379	0.526000	0.34562	7.917000	0.87498	2.090000	0.63153	0.459000	0.35465	ATC		0.557	ENO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004945.1	NM_001428		A	8923329	T	A	8923329	3	1	746	1	0	0	0	0	1	0	0	0	5123	1464	51	5	175	5	ENO1	1	8923329	Missense_Mutation	SNP	T	TCGA-KO-8405-01A-11D-2310-10		8923329	240327292	1	43704											
TMEM201	199953	ucsc.edu	37	1	9673104	9673104	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr1:9673104T>C	ENST00000340381.6	+	11	1973	c.1964T>C	c.(1963-1965)cTg>cCg	p.L655P	TMEM201_ENST00000377376.4_Missense_Mutation_p.L631P	NM_001130924.2	NP_001124396.2	Q5SNT2	TM201_HUMAN	transmembrane protein 201	655					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)		GCCAACGCCCTGTTCACCTCG	0.652																																																0													86	95	92					1																	9673104		692	1591	2283	SO:0001583	missense	199953				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.1964T>C	1.37:g.9673104T>C	ENSP00000344503:p.Leu655Pro		B9EH90|Q5SNT3	Missense_Mutation	SNP	ENST00000340381.6	37	CCDS44055.2	.	.	.	.	.	.	.	.	.	.	T	16.28	3.078081	0.55753	.	.	ENSG00000188807	ENST00000377376;ENST00000340381	.	.	.	5.27	5.27	0.74061	.	0.190024	0.34268	N	0.004108	T	0.46639	0.1403	L	0.32530	0.975	0.53005	D	0.99996	P	0.52842	0.956	P	0.44732	0.459	T	0.52756	-0.8533	9	0.87932	D	0	-26.1062	13.7563	0.62940	0.0:0.0:0.0:1.0	.	631	E9PBR6	.	P	631;655	.	ENSP00000344503:L655P	L	+	2	0	TMEM201	9595691	0.982000	0.34865	0.964000	0.40570	0.276000	0.26787	3.196000	0.51020	2.000000	0.58554	0.374000	0.22700	CTG		0.652	TMEM201-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127672.1	NM_001010866		C	9673104	T	C	9673104	3	2	746	1	0	0	0	0	1	0	0	0	16131	1580	55	3	2025	3	TMEM201	1	9673104	Missense_Mutation	SNP	T	TCGA-KO-8405-01A-11D-2310-10	749775	9673104	239577517	2	43705											
FAM131C	348487	broad.mit.edu;mdanderson.org	37	1	16386095	16386095	+	Silent	SNP	G	G	A			TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr1:16386095G>A	ENST00000375662.4	-	6	639	c.456C>T	c.(454-456)gtC>gtT	p.V152V	FAM131C_ENST00000494078.1_5'UTR	NM_182623.2	NP_872429.2	Q96AQ9	F131C_HUMAN	family with sequence similarity 131, member C	152										large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		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;8.32e-08)|COAD - Colon adenocarcinoma(227;5.56e-06)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		ACTGCTCGGCGACCCCTGGGG	0.672																																																0													15	15	15					1																	16386095		1788	4014	5802	SO:0001819	synonymous_variant	348487				CCDS41270.1	1p36.13	2008-02-05	2007-03-20	2007-03-20	ENSG00000185519	ENSG00000185519			26717	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 117"	C1orf117		12477932	Standard	NM_182623		Approved	FLJ36766	uc001axz.4	Q96AQ9	OTTHUMG00000009525	ENST00000375662.4:c.456C>T	1.37:g.16386095G>A			Q5T5Q5|Q8N3X3|Q8N9P9	Silent	SNP	ENST00000375662.4	37	CCDS41270.1																																																																																				0.672	FAM131C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026319.1	NM_182623		A	16386095	G	A	16386095	2	1	746	1	0	0	0	0	0	0	0	1	5443	1045	37	1		1	FAM131C	1	16386095	Silent	SNP	G	TCGA-KO-8405-01A-11D-2310-10	6712991	16386095	232864526	3	43706											
NPHS2	7827	mdanderson.org	37	1	179544941	179544941	+	Missense_Mutation	SNP	G	G	A	rs74315344	byFrequency	TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr1:179544941G>A	ENST00000367615.4	-	1	127	c.59C>T	c.(58-60)cCg>cTg	p.P20L	RNU5F-2P_ENST00000516066.1_RNA|NPHS2_ENST00000367616.4_Missense_Mutation_p.P20L	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	20			P -> L (in dbSNP:rs74315344). {ECO:0000269|PubMed:10742096}.		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						CTCCTTGTGCGGAGTCCTGCC	0.761													G|||	16	0.00319489	0.0061	0.0014	5008	,	,		9986	0.001		0.0	False		,,,				2504	0.0061															0			GRCh37	CM000579	NPHS2	M	rs74315344	G	LEU/PRO	16,3402		0,16,1693	3	4	3	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	59	2.8	0	1	dbSNP_131	3	14,7402		0,14,3694	yes	missense	NPHS2	NM_014625.2	98	0,30,5387	AA,AG,GG		0.1888,0.4681,0.2769	benign	20/384	179544941	30,10804	1709	3708	5417	SO:0001583	missense	7827			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.59C>T	1.37:g.179544941G>A	ENSP00000356587:p.Pro20Leu		B1AM32|B1AM33|Q8N6Q5	Missense_Mutation	SNP	ENST00000367615.4	37	CCDS1331.1	3	0.0013736263736263737	1	0.0020325203252032522	1	0.0027624309392265192	1	0.0017482517482517483	0	0.0	G	13.54	2.268734	0.40095	0.004681	0.001888	ENSG00000116218	ENST00000367615;ENST00000367616	D;D	0.99656	-6.31;-6.31	3.85	2.83	0.33086	.	1.497510	0.04248	U	0.338137	D	0.97854	0.9295	N	0.24115	0.695	0.09310	A	2.44025e-07	B;B	0.30193	0.272;0.098	B;B	0.19666	0.026;0.012	D	0.99312	1.0904	9	0.56958	D	0.05	-0.5397	8.0545	0.30598	0.0:0.0:0.7583:0.2417	.	20;20	Q9NP85-2;Q9NP85	.;PODO_HUMAN	L	20	ENSP00000356587:P20L;ENSP00000356588:P20L	ENSP00000356587:P20L	P	-	2	0	NPHS2	177811564	0.011000	0.17503	0.002000	0.10522	0.051000	0.14879	1.779000	0.38624	1.857000	0.53885	0.313000	0.20887	CCG		0.761	NPHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085283.1			A	179544941	G	A	179544941	3	1	746	1	0	0	0	0	1	0	0	0	10585	1116	39	1	1124	1	NPHS2	1	179544941	Missense_Mutation	SNP	G	TCGA-KO-8405-01A-11D-2310-10	163158846	179544941	69705680	4	43707											
CHIT1	1118	bcgsc.ca	37	1	203186950	203186950	+	Nonsense_Mutation	SNP	C	C	T	rs201320385|rs3831317|rs150192398	byFrequency	TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr1:203186950C>T	ENST00000367229.1	-	10	1107	c.1073G>A	c.(1072-1074)tGg>tAg	p.W358*	CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000255427.3_Nonsense_Mutation_p.W339*|CHIT1_ENST00000535569.1_Nonsense_Mutation_p.W349*	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	358					chitin catabolic process (GO:0006032)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|lysosome (GO:0005764)	chitin binding (GO:0008061)|chitinase activity (GO:0004568)|endochitinase activity (GO:0008843)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						GTCCAGTGCCCAGACCATGGC	0.632																																																0													60	52	54					1																	203186950		2203	4300	6503	SO:0001587	stop_gained	1118			U29615	CCDS1436.1, CCDS58057.1	1q32.1	2013-06-06			ENSG00000133063	ENSG00000133063			1936	protein-coding gene	gene with protein product		600031				9748235, 9492324	Standard	NM_003465		Approved	CHIT, CHI3	uc001gzn.2	Q13231	OTTHUMG00000042126	ENST00000367229.1:c.1073G>A	1.37:g.203186950C>T	ENSP00000356198:p.Trp358*		B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	Nonsense_Mutation	SNP	ENST00000367229.1	37	CCDS1436.1	.	.	.	.	.	.	.	.	.	.	C	19.93	3.918897	0.73098	.	.	ENSG00000133063	ENST00000367229;ENST00000255427;ENST00000535569	.	.	.	4.57	4.57	0.56435	.	0.000000	0.42053	D	0.000776	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.7042	15.2284	0.73369	0.0:1.0:0.0:0.0	.	.	.	.	X	358;339;349	.	ENSP00000255427:W339X	W	-	2	0	CHIT1	201453573	1.000000	0.71417	0.432000	0.26747	0.080000	0.17528	6.938000	0.75904	2.238000	0.73509	0.563000	0.77884	TGG		0.632	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100275.2	NM_003465		T	203186950	C	T	203186950	4	4	746	1	0	0	0	0	0	1	0	0	3348	595	21	2	335	2	CHIT1	1	203186950	Nonsense_Mutation	SNP	C	TCGA-KO-8405-01A-11D-2310-10	23642009	203186950	46063671	5	43708											
SRGAP2	647135	broad.mit.edu	37	1	206516357	206516357	+	IGR	DEL	A	A	-			TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr1:206516357delA								CTSE (184253 upstream) : SRGAP2-AS1 (35861 downstream)																							AAGACTCTTTAAAAAGGTACA	0.408																																																0													42	38	39					1																	206516357		1863	4095	5958	SO:0001628	intergenic_variant	23380																															1.37:g.206516357delA				Frame_Shift_Del	DEL		37																																																																																				0	0.408									-	206516357	A	-	206516357	6	5	746	0	1	1	0	1	0	0	0	0	15151	369	13	0		0	SRGAP2	1	206516357	IGR	DEL	A	TCGA-KO-8405-01A-11D-2310-10	3329407	206516357	42734264	6	43709											
OR2T33	391195	mdanderson.org	37	1	248436807	248436807	+	Missense_Mutation	SNP	T	T	A	rs377005013		TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr1:248436807T>A	ENST00000318021.2	-	1	331	c.310A>T	c.(310-312)Aca>Tca	p.T104S		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	104						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)			CCACCCAGTGTGGGGAGGAAG	0.587																																																0								T	SER/THR	0,4404		0,0,2202	41	42	42		310	1.4	0	1		42	3,8573		0,3,4285	no	missense	OR2T33	NM_001004695.1	58	0,3,6487	AA,AT,TT		0.035,0.0,0.0231	benign	104/321	248436807	3,12977	2202	4288	6490	SO:0001583	missense	391195				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.310A>T	1.37:g.248436807T>A	ENSP00000324687:p.Thr104Ser		B2RNN0	Missense_Mutation	SNP	ENST00000318021.2	37	CCDS31109.1	.	.	.	.	.	.	.	.	.	.	-	0.015	-1.560487	0.00910	0.0	3.5E-4	ENSG00000177212	ENST00000318021	T	0.00453	7.33	2.7	1.36	0.22044	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36303	U	0.002677	T	0.00144	0.0004	N	0.10972	0.075	0.09310	N	1	P	0.35307	0.494	B	0.31191	0.125	T	0.34825	-0.9813	10	0.23891	T	0.37	.	3.7146	0.08433	0.5145:0.1202:0.0:0.3652	.	104	Q8NG76	O2T33_HUMAN	S	104	ENSP00000324687:T104S	ENSP00000324687:T104S	T	-	1	0	OR2T33	246503430	0.000000	0.05858	0.009000	0.14445	0.003000	0.03518	-1.540000	0.02200	0.124000	0.18369	0.404000	0.27445	ACA		0.587	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695		A	248436807	T	A	248436807	3	1	746	1	0	0	0	0	1	0	0	0	11026	1696	59	5	655	5	OR2T33	1	248436807	Missense_Mutation	SNP	T	TCGA-KO-8405-01A-11D-2310-10	41920450	248436807	813814	7	43710											
MBOAT2	129642	broad.mit.edu	37	2	9013240	9013240	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr2:9013240A>G	ENST00000305997.3	-	8	1079	c.881T>C	c.(880-882)cTa>cCa	p.L294P	MBOAT2_ENST00000486484.1_5'UTR	NM_138799.2	NP_620154.2	Q6ZWT7	MBOA2_HUMAN	membrane bound O-acyltransferase domain containing 2	294					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)		MBOAT2/PRKCE(2)	endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TTACTTACCTAGCGTCCATGC	0.413																																					Ovarian(194;1699 3813 22401)											0													82	78	79					2																	9013240		2203	4300	6503	SO:0001583	missense	129642			BC016005	CCDS1660.1	2p25	2008-02-05	2006-06-29	2006-06-29	ENSG00000143797	ENSG00000143797			25193	protein-coding gene	gene with protein product		611949	"O-acyltransferase (membrane bound) domain containing 2"	OACT2			Standard	NM_138799		Approved	FLJ14415, FLJ90298	uc002qzg.1	Q6ZWT7	OTTHUMG00000090363	ENST00000305997.3:c.881T>C	2.37:g.9013240A>G	ENSP00000302177:p.Leu294Pro		A9EDR2|Q8NCE7|Q96KY4	Missense_Mutation	SNP	ENST00000305997.3	37	CCDS1660.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.046540	0.75846	.	.	ENSG00000143797	ENST00000305997	T	0.74421	-0.84	5.07	5.07	0.68467	.	0.139671	0.46442	D	0.000286	D	0.88239	0.6383	M	0.90198	3.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.988	D	0.90823	0.4710	10	0.87932	D	0	-7.5219	14.8342	0.70169	1.0:0.0:0.0:0.0	.	294;294	B7Z3I3;Q6ZWT7	.;MBOA2_HUMAN	P	294	ENSP00000302177:L294P	ENSP00000302177:L294P	L	-	2	0	MBOAT2	8930691	1.000000	0.71417	0.964000	0.40570	0.796000	0.44982	8.954000	0.93051	1.902000	0.55061	0.377000	0.23210	CTA		0.413	MBOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206735.1	NM_138799		G	9013240	A	G	9013240	3	3	746	1	0	0	0	0	1	0	0	0	9359	420	15	3	705	3	MBOAT2	2	9013240	Missense_Mutation	SNP	A	TCGA-KO-8405-01A-11D-2310-10		9013240	234186133	8	43711											
NPAS2	4862	broad.mit.edu	37	2	101607324	101607324	+	Missense_Mutation	SNP	C	C	T	rs141762291		TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr2:101607324C>T	ENST00000335681.5	+	19	2386	c.2101C>T	c.(2101-2103)Cgg>Tgg	p.R701W	AC016738.4_ENST00000452364.1_RNA|NPAS2_ENST00000542504.1_Missense_Mutation_p.R766W	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	701					cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|circadian sleep/wake cycle (GO:0042745)|locomotor rhythm (GO:0045475)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of response to DNA damage stimulus (GO:2001020)|response to redox state (GO:0051775)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|Hsp90 protein binding (GO:0051879)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CAGGACGGGACGGCAAGTCAA	0.652																																																0								C	TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	69	62	64		2101	3.7	1	2	dbSNP_134	64	1,8599		0,1,4299	no	missense	NPAS2	NM_002518.3	101	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	probably-damaging	701/825	101607324	3,13003	2203	4300	6503	SO:0001583	missense	4862			U77970	CCDS2048.1	2q11.2	2013-05-21			ENSG00000170485	ENSG00000170485		"Basic helix-loop-helix proteins"	7895	protein-coding gene	gene with protein product		603347				9012850, 9079689	Standard	NM_002518		Approved	MOP4, PASD4, bHLHe9	uc002tap.1	Q99743	OTTHUMG00000130675	ENST00000335681.5:c.2101C>T	2.37:g.101607324C>T	ENSP00000338283:p.Arg701Trp		Q4ZFV9|Q53SQ3|Q86V96|Q99629	Missense_Mutation	SNP	ENST00000335681.5	37	CCDS2048.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.88|16.88	3.245069|3.245069	0.59103|0.59103	4.54E-4|4.54E-4	1.16E-4|1.16E-4	ENSG00000170485|ENSG00000170485	ENST00000335681;ENST00000542504|ENST00000433408	T;T|.	0.05382|.	3.47;3.45|.	4.63|4.63	3.74|3.74	0.42951|0.42951	.|.	.|.	.|.	.|.	.|.	T|T	0.56529|0.56529	0.1991|0.1991	L|L	0.51422|0.51422	1.61|1.61	0.38431|0.38431	D|D	0.946433|0.946433	D;D|.	0.69078|.	0.997;0.992|.	P;B|.	0.49953|.	0.627;0.332|.	T|T	0.57081|0.57081	-0.7872|-0.7872	9|5	0.87932|.	D|.	0|.	.|.	7.2525|7.2525	0.26158|0.26158	0.0:0.745:0.0:0.255|0.0:0.745:0.0:0.255	.|.	766;701|.	F5H027;Q99743|.	.;NPAS2_HUMAN|.	W|M	701;766|199	ENSP00000338283:R701W;ENSP00000438428:R766W|.	ENSP00000338283:R701W|.	R|T	+|+	1|2	2|0	NPAS2|NPAS2	100973756|100973756	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	1.394000|1.394000	0.34509|0.34509	2.279000|2.279000	0.76181|0.76181	0.462000|0.462000	0.41574|0.41574	CGG|ACG		0.652	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253168.3			T	101607324	C	T	101607324	3	4	746	1	0	0	0	0	1	0	0	0	10565	527	19	1	2171	1	NPAS2	2	101607324	Missense_Mutation	SNP	C	TCGA-KO-8405-01A-11D-2310-10	92594084	101607324	141592049	9	43712											
CBWD2	150472	broad.mit.edu	37	2	114201378	114201379	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr2:114201378_114201379insG	ENST00000259199.4	+	3	454_455	c.276_277insG	c.(277-279)ggtfs	p.G93fs	CBWD2_ENST00000416503.2_Frame_Shift_Ins_p.G93fs|CBWD2_ENST00000433343.2_Frame_Shift_Ins_p.G57fs	NM_172003.3	NP_742000.1	Q8IUF1	CBWD2_HUMAN	COBW domain containing 2	93							ATP binding (GO:0005524)			endometrium(1)|lung(1)	2						CTGTCAGCCAAGGTGGAGAGCT	0.421																																																0																																										SO:0001589	frameshift_variant	150472			AF452722	CCDS2116.1	2q14.1	2005-08-22			ENSG00000136682	ENSG00000136682			17907	protein-coding gene	gene with protein product		611079				12421752, 15233989	Standard	NM_172003		Approved		uc002tju.3	Q8IUF1	OTTHUMG00000131360	ENST00000259199.4:c.278dupG	2.37:g.114201380_114201380dupG	ENSP00000259199:p.Gly93fs		Q0VAN3	Frame_Shift_Ins	INS	ENST00000259199.4	37	CCDS2116.1																																																																																				0.421	CBWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254149.3	NM_172003		G	114201379	-	G	114201378	7	5	746	1	0	1	1	0	0	0	0	0	2715	69	3	0	286	0	CBWD2	2	114201378	Frame_Shift_Ins	INS	-	TCGA-KO-8405-01A-11D-2310-10	12594054	114201378	128997995	10	43713											
HS6ST1	9394	mdanderson.org	37	2	129025928	129025928	+	Silent	SNP	G	G	A	rs200330310	byFrequency	TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr2:129025928G>A	ENST00000259241.6	-	2	1057	c.1044C>T	c.(1042-1044)taC>taT	p.Y348Y		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	348					angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|labyrinthine layer blood vessel development (GO:0060716)|lung alveolus development (GO:0048286)|neuron development (GO:0048666)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)|sulfotransferase activity (GO:0008146)			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		TGGCGTAGTCGTACAGCTGCA	0.642																																																0													76	81	79					2																	129025928		2180	4286	6466	SO:0001819	synonymous_variant	9394			AB006179	CCDS42748.1	2q21	2010-03-19		2002-08-23	ENSG00000136720	ENSG00000136720		"Sulfotransferases, membrane-bound"	5201	protein-coding gene	gene with protein product		604846		HS6ST		9535912	Standard	NM_004807		Approved		uc002tpt.4	O60243	OTTHUMG00000153542	ENST00000259241.6:c.1044C>T	2.37:g.129025928G>A			B4DEP2|B4DJ29|Q53SL2|Q9BVI1	Silent	SNP	ENST00000259241.6	37	CCDS42748.1																																																																																				0.642	HS6ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331572.1	NM_004807		A	129025928	G	A	129025928	2	1	746	1	0	0	0	0	0	0	0	1	7372	1140	40	1		1	HS6ST1	2	129025928	Silent	SNP	G	TCGA-KO-8405-01A-11D-2310-10	14824550	129025928	114173445	11	43714											
ADAM23	8745	broad.mit.edu;bcgsc.ca	37	2	207459582	207459582	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr2:207459582A>G	ENST00000264377.3	+	23	2528	c.2200A>G	c.(2200-2202)Agc>Ggc	p.S734G	ADAM23_ENST00000374416.1_Missense_Mutation_p.S734G|ADAM23_ENST00000374415.3_Missense_Mutation_p.S734G	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	734	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		CCTAAATATGAGCAGCTGTCC	0.483																																					Melanoma(194;1127 2130 19620 24042 27855)											0													183	167	172					2																	207459582		2203	4300	6503	SO:0001583	missense	8745			AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"ADAM metallopeptidase domain containing"	202	protein-coding gene	gene with protein product		603710	"a disintegrin and metalloproteinase domain 23"			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.2200A>G	2.37:g.207459582A>G	ENSP00000264377:p.Ser734Gly		A2RU59	Missense_Mutation	SNP	ENST00000264377.3	37	CCDS2369.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.1|22.1	4.249450|4.249450	0.80024|0.80024	.|.	.|.	ENSG00000114948|ENSG00000114948	ENST00000264377;ENST00000374416;ENST00000431817;ENST00000374415|ENST00000444281	T;T;T|.	0.02067|.	4.48;4.47;4.47|.	5.91|5.91	5.91|5.91	0.95273|0.95273	Epidermal growth factor-like, type 3 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.76335|.	0.3973|.	M|M	0.78456|0.78456	2.415|2.415	0.58432|0.58432	D|D	0.999997|0.999997	D|.	0.89917|.	1.0|.	D|.	0.66497|.	0.944|.	T|.	0.77067|.	-0.2725|.	10|.	0.52906|.	T|.	0.07|.	.|.	15.528|15.528	0.75928|0.75928	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	734|.	O75077|.	ADA23_HUMAN|.	G|W	734;734;628;734|8	ENSP00000264377:S734G;ENSP00000363537:S734G;ENSP00000363536:S734G|.	ENSP00000264377:S734G|.	S|X	+|+	1|3	0|0	ADAM23|ADAM23	207167827|207167827	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.935000|0.935000	0.57460|0.57460	7.327000|7.327000	0.79147|0.79147	2.263000|2.263000	0.75096|0.75096	0.528000|0.528000	0.53228|0.53228	AGC|TGA		0.483	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256431.2	NM_003812		G	207459582	A	G	207459582	3	3	746	1	0	0	0	0	1	0	0	0	245	304	11	3	2290	3	ADAM23	2	207459582	Missense_Mutation	SNP	A	TCGA-KO-8405-01A-11D-2310-10	78433654	207459582	35739791	12	43715											
CCR2	729230	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	3	46399846	46399846	+	Missense_Mutation	SNP	C	C	A			TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr3:46399846C>A	ENST00000400888.2	+	1	867	c.828C>A	c.(826-828)aaC>aaA	p.N276K	CCR2_ENST00000465202.1_3'UTR|CCR2_ENST00000445132.2_Missense_Mutation_p.N276K|CCR2_ENST00000292301.4_Missense_Mutation_p.N276K			P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	276					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)		GCCTGAGTAACTGTGAAAGCA	0.473																																																0													160	146	150					3																	46399846		1568	3582	5150	SO:0001583	missense	729230				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.828C>A	3.37:g.46399846C>A	ENSP00000383681:p.Asn276Lys		A0AVQ3|B2RMT0|Q4VBL2	Missense_Mutation	SNP	ENST00000400888.2	37	CCDS43078.1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.906713	0.33628	.	.	ENSG00000121807	ENST00000445132;ENST00000292301;ENST00000400888	T;T;T	0.69306	2.06;-0.39;-0.39	4.95	3.08	0.35506	GPCR, rhodopsin-like superfamily (1);	0.402277	0.25383	N	0.031073	T	0.71221	0.3314	M	0.77820	2.39	0.22401	N	0.999136	B;P	0.38420	0.21;0.63	P;B	0.46208	0.507;0.41	T	0.65307	-0.6200	10	0.66056	D	0.02	.	9.0876	0.36590	0.0:0.6655:0.0:0.3345	.	276;276	P41597;Q4VBL2	CCR2_HUMAN;.	K	276	ENSP00000399285:N276K;ENSP00000292301:N276K;ENSP00000383681:N276K	ENSP00000292301:N276K	N	+	3	2	CCR2	46374850	0.000000	0.05858	0.333000	0.25482	0.497000	0.33675	-0.329000	0.07935	1.197000	0.43143	0.585000	0.79938	AAC		0.473	CCR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344292.1	NM_000647		A	46399846	C	A	46399846	3	1	746	1	0	0	0	0	1	0	0	0	2943	564	20	4	830	4	CCR2	3	46399846	Missense_Mutation	SNP	C	TCGA-KO-8405-01A-11D-2310-10		46399846	151622584	13	43716											
OTOP1	133060	ucsc.edu	37	4	4228424	4228425	+	Missense_Mutation	DNP	TT	TT	CC	rs78657691		TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	TT	TT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr4:4228424_4228425TT>CC	ENST00000296358.4	-	1	191_192	c.167_168AA>GG	c.(166-168)aAA>aGG	p.K56R		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	56					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)		TCTCGGCCAGTTTCTGTGGGAC	0.738																																																0																																										SO:0001583	missense	133060			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.167_168delinsCC	4.37:g.4228424_4228425delinsCC	ENSP00000296358:p.Lys56Arg		A1L476	Missense_Mutation	DNP	ENST00000296358.4	37	CCDS3372.1																																																																																				0.738	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		CC	4228425	TT	CC	4228424	3	2	746	1	0	0	0	0	1	0	0	0	11307	1722	60	3	1694	3	OTOP1	4	4228424	Missense_Mutation	DNP	TT	TCGA-KO-8405-01A-11D-2310-10		4228424	186925852	14	43717											
FBXW7	55294	hgsc.bcm.edu	37	4	153247276	153247276	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr4:153247276T>C	ENST00000281708.4	-	10	2755	c.1526A>G	c.(1525-1527)tAt>tGt	p.Y509C	FBXW7_ENST00000603841.1_Missense_Mutation_p.Y509C|FBXW7_ENST00000393956.3_Missense_Mutation_p.Y333C|FBXW7_ENST00000603548.1_Missense_Mutation_p.Y509C|FBXW7_ENST00000296555.5_Missense_Mutation_p.Y391C|FBXW7_ENST00000263981.5_Missense_Mutation_p.Y429C	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	509					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.Y429F(1)|p.Y509F(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)				CCTGCCATCATATTGAACACA	0.468			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																		Rec	yes		4	4q31.3	55294	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"		"E, L"	3	Substitution - Missense(2)|Unknown(1)	lung(2)|haematopoietic_and_lymphoid_tissue(1)											171	164	167					4																	153247276		2203	4300	6503	SO:0001583	missense	55294			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"F-boxes / WD-40 domains", "WD repeat domain containing"	16712	protein-coding gene	gene with protein product	"archipelago homolog (Drosophila)"	606278	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)", "F-box and WD repeat domain containing 7"			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1526A>G	4.37:g.153247276T>C	ENSP00000281708:p.Tyr509Cys		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.002642	0.74932	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.60040	0.22;0.22;0.22;0.22	5.72	5.72	0.89469	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.054216	0.85682	D	0.000000	T	0.73946	0.3652	M	0.64170	1.965	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.994;0.998;0.996;0.996	T	0.75377	-0.3339	10	0.56958	D	0.05	-21.1615	16.2962	0.82776	0.0:0.0:0.0:1.0	.	333;509;391;429	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	C	509;391;429;333	ENSP00000281708:Y509C;ENSP00000296555:Y391C;ENSP00000263981:Y429C;ENSP00000377528:Y333C	ENSP00000263981:Y429C	Y	-	2	0	FBXW7	153466726	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.965000	0.87945	2.304000	0.77564	0.528000	0.53228	TAT		0.468	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			C	153247276	T	C	153247276	3	2	746	1	0	0	0	0	1	0	0	0	5771	1406	49	3	609	3	FBXW7	4	153247276	Missense_Mutation	SNP	T	TCGA-KO-8405-01A-11D-2310-10	149018852	153247276	37907000	15	43718											
PTCD2	79810	ucsc.edu	37	5	71638808	71638808	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr5:71638808T>C	ENST00000380639.5	+	8	789	c.773T>C	c.(772-774)gTg>gCg	p.V258A	PTCD2_ENST00000543322.1_3'UTR|PTCD2_ENST00000536805.1_Missense_Mutation_p.V86A|PTCD2_ENST00000503868.1_Missense_Mutation_p.V149A|PTCD2_ENST00000460837.2_3'UTR	NM_024754.3	NP_079030.3	Q8WV60	PTCD2_HUMAN	pentatricopeptide repeat domain 2	258					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)		GCAAAAGCTGTGTCCATTTTT	0.318																																																0													81	77	78					5																	71638808		2203	4297	6500	SO:0001583	missense	79810			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.773T>C	5.37:g.71638808T>C	ENSP00000370013:p.Val258Ala		B7Z5D0|B7Z8L7|E9PFV7|Q6IA65|Q9H9R0	Missense_Mutation	SNP	ENST00000380639.5	37	CCDS4014.2	.	.	.	.	.	.	.	.	.	.	T	0.453	-0.893057	0.02491	.	.	ENSG00000049883	ENST00000380639;ENST00000503868;ENST00000510676;ENST00000536805	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.47	-5.28	0.02755	.	1.923100	0.02223	N	0.064192	T	0.32010	0.0815	L	0.44542	1.39	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.15983	-1.0418	10	0.17832	T	0.49	.	8.9156	0.35579	0.0:0.5064:0.1812:0.3123	.	149;86;258	E9PFV7;B7Z8L7;Q8WV60	.;.;PTCD2_HUMAN	A	258;149;87;86	ENSP00000370013:V258A;ENSP00000427349:V149A;ENSP00000426295:V87A;ENSP00000444772:V86A	ENSP00000308948:V258A	V	+	2	0	PTCD2	71674564	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-0.552000	0.06020	-0.792000	0.04480	-0.334000	0.08254	GTG		0.318	PTCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218562.6	NM_024754		C	71638808	T	C	71638808	3	2	746	1	0	0	0	0	1	0	0	0	12733	1696	59	3	803	3	PTCD2	5	71638808	Missense_Mutation	SNP	T	TCGA-KO-8405-01A-11D-2310-10		71638808	109276452	16	43719											
TIMD4	91937	broad.mit.edu	37	5	156378731	156378733	+	In_Frame_Del	DEL	GGT	GGT	-			TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	GGT	GGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr5:156378731_156378733delGGT	ENST00000274532.2	-	3	525_527	c.469_471delACC	c.(469-471)accdel	p.T157del	TIMD4_ENST00000407087.3_In_Frame_Del_p.T157del	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	157	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)			TCATTTGTCGGGTGGTGGTGGGG	0.527																																																0																																										SO:0001651	inframe_deletion	91937			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.469_471delACC	5.37:g.156378737_156378739delGGT	ENSP00000274532:p.Thr157del		B5MCL9	In_Frame_Del	DEL	ENST00000274532.2	37	CCDS4332.1																																																																																				0.527	TIMD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252568.1	NM_138379		-	156378733	GGT	-	156378731	7	5	746	1	0	1	0	1	0	0	0	0	15908	1219	43	0	693	0	TIMD4	5	156378731	In_Frame_Del	DEL	GGT	TCGA-KO-8405-01A-11D-2310-10	84739923	156378731	24536529	17	43720											
NRSN1	140767	ucsc.edu	37	6	24146152	24146152	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr6:24146152T>C	ENST00000378491.4	+	4	867	c.566T>C	c.(565-567)gTc>gCc	p.V189A		NM_080723.4	NP_542454.3			neurensin 1											breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						GTTCAAAATGTCCAGCCTCTA	0.488																																																0													59	66	64					6																	24146152		2203	4300	6503	SO:0001583	missense	140767			AF418980	CCDS4549.1	6p22.1	2008-02-05	2006-07-04	2006-07-04	ENSG00000152954	ENSG00000152954			17881	protein-coding gene	gene with protein product			"vesicular membrane protein p24"	VMP		12463420	Standard	NM_080723		Approved	p24	uc010jpq.1	Q8IZ57	OTTHUMG00000016406	ENST00000378491.4:c.566T>C	6.37:g.24146152T>C	ENSP00000367752:p.Val189Ala			Missense_Mutation	SNP	ENST00000378491.4	37	CCDS4549.1	.	.	.	.	.	.	.	.	.	.	T	18.53	3.644350	0.67244	.	.	ENSG00000152954	ENST00000378491	T	0.22743	1.94	5.35	5.35	0.76521	.	0.116292	0.64402	D	0.000016	T	0.14657	0.0354	M	0.66939	2.045	0.80722	D	1	P	0.40534	0.72	B	0.35278	0.199	T	0.03555	-1.1025	10	0.87932	D	0	-15.1381	15.351	0.74384	0.0:0.0:0.0:1.0	.	189	Q8IZ57	NRSN1_HUMAN	A	189	ENSP00000367752:V189A	ENSP00000367752:V189A	V	+	2	0	NRSN1	24254131	1.000000	0.71417	0.998000	0.56505	0.921000	0.55340	7.451000	0.80668	2.027000	0.59764	0.528000	0.53228	GTC		0.488	NRSN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043866.1	NM_080723		C	24146152	T	C	24146152	3	2	746	1	0	0	0	0	1	0	0	0	10664	1667	58	3	572	3	NRSN1	6	24146152	Missense_Mutation	SNP	T	TCGA-KO-8405-01A-11D-2310-10		24146152	146968915	18	43721											
HLA-A	3105	mdanderson.org	37	6	29910801	29910801	+	Missense_Mutation	SNP	C	C	A	rs1136692	byFrequency	TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr6:29910801C>A	ENST00000396634.1	+	4	682	c.341C>A	c.(340-342)gCc>gAc	p.A114D	HLA-A_ENST00000376806.5_Missense_Mutation_p.A114D|HLA-A_ENST00000376809.5_Missense_Mutation_p.A114D|HLA-A_ENST00000376802.2_Missense_Mutation_p.A114D			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	114	Alpha-1.		A -> D (in allele A*31:03).		antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CAGAGCGAGGCCGGTGAGTGA	0.682									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			a|||	1484	0.296326	0.2413	0.1744	5008	,	,		10398	0.3929		0.2475	False		,,,				2504	0.408															0								A	ASP/ALA	802,3598		84,634,1482	40	43	42		341	-6.5	0	6	dbSNP_131	42	2513,6069		461,1591,2239	no	missense	HLA-A	NM_002116.7	126	545,2225,3721	AA,AC,CC		29.2822,18.2273,25.5354	benign	114/366	29910801	3315,9667	2200	4291	6491	SO:0001583	missense	3105	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.341C>A	6.37:g.29910801C>A	ENSP00000379873:p.Ala114Asp		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	CCDS34373.1	514	0.23534798534798534	95	0.19308943089430894	51	0.1408839779005525	175	0.30594405594405594	193	0.2546174142480211	.	7.188	0.590993	0.13812	0.182273	0.292822	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000355767;ENST00000376802	T;T;T;T	0.00009	9.49;9.49;9.49;9.49	3.57	-6.48	0.01896	MHC class I, alpha chain, alpha1/alpha2 (2);MHC classes I/II-like antigen recognition protein (2);MHC class I-like antigen recognition (2);	.	.	.	.	T	0.00039	0.0001	M	0.73319	2.225	0.80722	P	0.0	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.002;0.0;0.0;0.0	T	0.14783	-1.0460	8	0.37606	T	0.19	.	7.6397	0.28286	0.3552:0.3375:0.3073:0.0	rs1136692;rs2231013;rs2308561;rs3177886;rs3179185;rs12721825;rs17433758;rs41557214	114;114;114;114	Q5SRN7;P16188;Q5SRN5;P04439	.;1A30_HUMAN;.;1A03_HUMAN	D	114	ENSP00000379873:A114D;ENSP00000366002:A114D;ENSP00000366005:A114D;ENSP00000365998:A114D	ENSP00000348012:A114D	A	+	2	0	HLA-A	30018780	0.000000	0.05858	0.002000	0.10522	0.012000	0.07955	-1.881000	0.01626	-1.395000	0.02074	-4.609000	0.00004	GCC		0.682	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		A	29910801	C	A	29910801	3	1	746	1	0	0	0	0	1	0	0	0	7197	739	26	4	347	4	HLA-A	6	29910801	Missense_Mutation	SNP	C	TCGA-KO-8405-01A-11D-2310-10	5764649	29910801	141204266	19	43722											
RNF39	80352	mdanderson.org	37	6	30043171	30043171	+	Silent	SNP	G	G	C	rs9261304	byFrequency	TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr6:30043171G>C	ENST00000244360.6	-	1	493	c.396C>G	c.(394-396)ccC>ccG	p.P132P	RNF39_ENST00000376751.3_Silent_p.P132P	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39	132						cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)										GGCCGCAGCAGGGACAGGCGG	0.721													g|||	207	0.0413339	0.0499	0.0403	5008	,	,		11706	0.0357		0.0507	False		,,,				2504	0.0266				NSCLC(8;188 360 1520 20207 31481)											0								G	,	120,3262		0,120,1571	4	5	4		396,396	0.7	0.9	6	dbSNP_118	4	303,6971		5,293,3339	no	coding-synonymous,coding-synonymous	RNF39	NM_025236.3,NM_170769.2	,	5,413,4910	CC,CG,GG		4.1655,3.5482,3.9696	,	132/421,132/355	30043171	423,10233	1691	3637	5328	SO:0001819	synonymous_variant	80352			AF238315	CCDS4673.1, CCDS4674.1	6p21.3	2013-01-09			ENSG00000204618	ENSG00000204618		"RING-type (C3HC4) zinc fingers"	18064	protein-coding gene	gene with protein product		607524				11130983, 11716498	Standard	NM_170769		Approved	HZFw1, LIRF	uc003npe.3	Q9H2S5	OTTHUMG00000031288	ENST00000244360.6:c.396C>G	6.37:g.30043171G>C			A2BEK3|A6NCD6|B0S858|Q5SPM8|Q5SPM9|Q5SPN0|Q5SRJ9|Q5SRK1|Q5SS29|Q9H2S3|Q9H2S4	Silent	SNP	ENST00000244360.6	37	CCDS4673.1																																																																																				0.721	RNF39-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076625.3	NM_170769		C	30043171	G	C	30043171	2	2	746	1	0	0	0	0	0	0	0	1	13497	987	35	4		4	RNF39	6	30043171	Silent	SNP	G	TCGA-KO-8405-01A-11D-2310-10	132370	30043171	141071896	20	43723											
HLA-B	3106	mdanderson.org	37	6	31324595	31324595	+	Silent	SNP	C	C	G	rs1050543|rs281864598	byFrequency	TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr6:31324595C>G	ENST00000412585.2	-	2	241	c.213G>C	c.(211-213)ccG>ccC	p.P71P		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	71	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						ACGGCGCCCGCGGCTCCTCTC	0.672									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				.|||	2476	0.494409	0.4902	0.4539	5008	,	,		8006	0.5417		0.3718	False		,,,				2504	0.6063															0								C		1038,3194		276,486,1354	35	35	35		213	0.2	0.6	6	dbSNP_134	35	1583,6613		422,739,2937	no	coding-synonymous	HLA-B	NM_005514.6		698,1225,4291	GG,GC,CC		19.3143,24.5274,21.0895		71/363	31324595	2621,9807	2116	4098	6214	SO:0001819	synonymous_variant	3106	Familial Cancer Database	;Lichen Sclerosis, Familial	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4932	protein-coding gene	gene with protein product		142830	"ankylosing spondylitis"	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.213G>C	6.37:g.31324595C>G			Q29764	Silent	SNP	ENST00000412585.2	37	CCDS34394.1																																																																																				0.672	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514		G	31324595	C	G	31324595	2	3	746	1	0	0	0	0	0	0	0	1	7198	755	27	4		4	HLA-B	6	31324595	Silent	SNP	C	TCGA-KO-8405-01A-11D-2310-10	1281424	31324595	139790472	21	43724											
HSP90AB1	3326	mdanderson.org	37	6	44221262	44221262	+	Missense_Mutation	SNP	A	A	G	rs201760495	byFrequency	TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr6:44221262A>G	ENST00000371554.1	+	12	2316	c.2102A>G	c.(2101-2103)aAt>aGt	p.N701S	HSP90AB1_ENST00000371646.5_Missense_Mutation_p.N701S|HSP90AB1_ENST00000353801.3_Missense_Mutation_p.N701S|SLC35B2_ENST00000495706.1_5'Flank|MIR4647_ENST00000583964.1_RNA			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	701					axon guidance (GO:0007411)|cellular response to interleukin-4 (GO:0071353)|cellular response to organic cyclic compound (GO:0071407)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|placenta development (GO:0001890)|positive regulation of cell size (GO:0045793)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein folding (GO:0006457)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to salt stress (GO:0009651)|response to unfolded protein (GO:0006986)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP binding (GO:0002135)|dATP binding (GO:0032564)|double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|poly(A) RNA binding (GO:0044822)|TPR domain binding (GO:0030911)|UTP binding (GO:0002134)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GAGGAACCCAATGCTGCAGTT	0.453											OREG0017471	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													75	76	76					6																	44221262		2203	4300	6503	SO:0001583	missense	3326			AF275719	CCDS4909.1	6p12	2011-09-02	2006-02-24	2006-02-24	ENSG00000096384	ENSG00000096384		"Heat shock proteins / HSPC"	5258	protein-coding gene	gene with protein product		140572	"heat shock 90kD protein 1, beta", "heat shock 90kDa protein 1, beta"	HSPC2, HSPCB		2768249, 16269234	Standard	NM_001271969		Approved		uc031sor.1	P08238	OTTHUMG00000014761	ENST00000371554.1:c.2102A>G	6.37:g.44221262A>G	ENSP00000360609:p.Asn701Ser	922	B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Missense_Mutation	SNP	ENST00000371554.1	37	CCDS4909.1	.	.	.	.	.	.	.	.	.	.	G	3.876	-0.026861	0.07589	.	.	ENSG00000096384	ENST00000371646;ENST00000353801;ENST00000371554	T;T;T	0.08807	3.05;3.05;3.05	3.91	3.91	0.45181	.	0.272984	0.27901	N	0.017393	T	0.00580	0.0019	N	0.01109	-1.01	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.003;0.001;0.001	T	0.47749	-0.9093	10	0.02654	T	1	-8.621	7.7636	0.28968	0.0881:0.2939:0.618:0.0	.	663;691;701	B4DMA2;B4DGL0;P08238	.;.;HS90B_HUMAN	S	701	ENSP00000360709:N701S;ENSP00000325875:N701S;ENSP00000360609:N701S	ENSP00000325875:N701S	N	+	2	0	HSP90AB1	44329240	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	2.913000	0.48790	1.010000	0.39314	-0.166000	0.13349	AAT		0.453	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040730.1	NM_007355		G	44221262	A	G	44221262	3	3	746	1	0	0	0	0	1	0	0	0	7404	101	4	3	2144	3	HSP90AB1	6	44221262	Missense_Mutation	SNP	A	TCGA-KO-8405-01A-11D-2310-10	12896667	44221262	126893805	22	43725											
ROS1	6098	bcgsc.ca	37	6	117718246	117718246	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr6:117718246T>C	ENST00000368508.3	-	7	809	c.611A>G	c.(610-612)gAg>gGg	p.E204G	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.E213G	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	204	Fibronectin type-III 2. {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)		ACTTGAGCTCTCAATATTCCT	0.403			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"																																		Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"O, E"	0													90	90	90					6																	117718246		2203	4300	6503	SO:0001583	missense	6098			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"Fibronectin type III domain containing"	10261	protein-coding gene	gene with protein product		165020	"v-ros avian UR2 sarcoma virus oncogene homolog 1", "v-ros UR2 sarcoma virus oncogene homolog 1 (avian)", "c-ros oncogene 1 , receptor tyrosine kinase"			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.611A>G	6.37:g.117718246T>C	ENSP00000357494:p.Glu204Gly		Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	T	14.63	2.592321	0.46214	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.58506	0.33;0.33	5.54	4.37	0.52481	.	0.341658	0.26808	N	0.022397	T	0.29850	0.0746	L	0.47716	1.5	0.24776	N	0.992846	P	0.34934	0.476	B	0.34873	0.191	T	0.06844	-1.0804	10	0.35671	T	0.21	.	7.8253	0.29311	0.0:0.1551:0.0:0.8449	.	204	P08922	ROS1_HUMAN	G	204;213	ENSP00000357494:E204G;ENSP00000357493:E213G	ENSP00000357493:E213G	E	-	2	0	ROS1	117824939	0.652000	0.27349	0.837000	0.33122	0.996000	0.88848	2.332000	0.43903	2.229000	0.72834	0.528000	0.53228	GAG		0.403	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			C	117718246	T	C	117718246	3	2	746	1	0	0	0	0	1	0	0	0	13537	1551	54	3	6580	3	ROS1	6	117718246	Missense_Mutation	SNP	T	TCGA-KO-8405-01A-11D-2310-10	73496984	117718246	53396821	23	43726											
C7orf50	84310	ucsc.edu;bcgsc.ca	37	7	1049662	1049662	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr7:1049662G>A	ENST00000397098.3	-	3	1173	c.247C>T	c.(247-249)Cgg>Tgg	p.R83W	C7orf50_ENST00000357429.6_Missense_Mutation_p.R83W|C7orf50_ENST00000488073.1_5'UTR|C7orf50_ENST00000397100.2_Missense_Mutation_p.R83W			Q9BRJ6	CG050_HUMAN	chromosome 7 open reading frame 50	83							poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0216)|OV - Ovarian serous cystadenocarcinoma(56;1.3e-15)		CCTGCCTCCCGCAGACGCTGC	0.682																																																0													56	49	51					7																	1049662		2198	4298	6496	SO:0001583	missense	84310			BC006224	CCDS5320.1	7p22.3	2011-11-25			ENSG00000146540	ENSG00000146540			22421	protein-coding gene	gene with protein product							Standard	NM_032350		Approved	MGC11257, YCR016W	uc011jvu.1	Q9BRJ6	OTTHUMG00000151477	ENST00000397098.3:c.247C>T	7.37:g.1049662G>A	ENSP00000380286:p.Arg83Trp			Missense_Mutation	SNP	ENST00000397098.3	37	CCDS5320.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	10.32|10.32	1.316882|1.316882	0.23908|0.23908	.|.	.|.	ENSG00000146540|ENSG00000146540	ENST00000412051|ENST00000397100;ENST00000397098;ENST00000357429;ENST00000444428;ENST00000491163	.|.	.|.	.|.	3.65|3.65	0.353|0.353	0.16058|0.16058	.|.	.|0.075435	.|0.50627	.|D	.|0.000114	T|T	0.47619|0.47619	0.1455|0.1455	L|L	0.50333|0.50333	1.59|1.59	0.09310|0.09310	N|N	1|1	.|D	.|0.76494	.|0.999	.|P	.|0.60473	.|0.875	T|T	0.31779|0.31779	-0.9931|-0.9931	5|9	.|0.66056	.|D	.|0.02	-10.5968|-10.5968	7.3918|7.3918	0.26913|0.26913	0.0:0.1567:0.524:0.3193|0.0:0.1567:0.524:0.3193	.|.	.|83	.|Q9BRJ6	.|CG050_HUMAN	V|W	67|83;83;83;51;83	.|.	.|ENSP00000350011:R83W	A|R	-|-	2|1	0|2	C7orf50|C7orf50	1016188|1016188	0.000000|0.000000	0.05858|0.05858	0.076000|0.076000	0.20297|0.20297	0.104000|0.104000	0.19210|0.19210	-0.583000|-0.583000	0.05807|0.05807	0.297000|0.297000	0.22615|0.22615	0.457000|0.457000	0.33378|0.33378	GCG|CGG		0.682	C7orf50-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322817.3	NM_032350		A	1049662	G	A	1049662	3	1	746	1	0	0	0	0	1	0	0	0	2401	1086	38	1	349	1	C7orf50	7	1049662	Missense_Mutation	SNP	G	TCGA-KO-8405-01A-11D-2310-10		1049662	158089001	24	43727											
VPS37D	155382	ucsc.edu	37	7	73085354	73085354	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr7:73085354A>G	ENST00000324941.4	+	4	538	c.404A>G	c.(403-405)gAg>gGg	p.E135G	VPS37D_ENST00000451519.1_Missense_Mutation_p.E50G	NM_001077621.1	NP_001071089.1			vacuolar protein sorting 37 homolog D (S. cerevisiae)											central_nervous_system(1)|ovary(1)	2		Lung NSC(55;0.0908)|all_lung(88;0.198)				GAGCAGATGGAGCAGCTGCTG	0.687																																																0													27	30	29					7																	73085354		2041	4162	6203	SO:0001583	missense	155382			AY081952	CCDS43596.1	7q11.23	2007-07-27	2006-04-04	2005-08-18	ENSG00000176428	ENSG00000176428			18287	protein-coding gene	gene with protein product		610039	"Williams Beuren syndrome chromosome region 24", "vacuolar protein sorting 37D (yeast)"	WBSCR24		15218037	Standard	NM_001077621		Approved	MGC35352	uc003tyr.3	Q86XT2	OTTHUMG00000157227	ENST00000324941.4:c.404A>G	7.37:g.73085354A>G	ENSP00000320416:p.Glu135Gly			Missense_Mutation	SNP	ENST00000324941.4	37	CCDS43596.1	.	.	.	.	.	.	.	.	.	.	A	15.80	2.940897	0.52972	.	.	ENSG00000176428	ENST00000324941;ENST00000451519	T;T	0.80738	-1.41;-1.41	4.18	4.18	0.49190	Modifier of rudimentary, Modr (2);	0.084599	0.44285	D	0.000467	D	0.86661	0.5986	M	0.67397	2.05	0.45227	D	0.998237	D	0.76494	0.999	D	0.79108	0.992	D	0.87301	0.2305	10	0.87932	D	0	.	9.5294	0.39185	1.0:0.0:0.0:0.0	.	135	Q86XT2	VP37D_HUMAN	G	135;50	ENSP00000320416:E135G;ENSP00000413337:E50G	ENSP00000320416:E135G	E	+	2	0	VPS37D	72723290	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.238000	0.43070	1.743000	0.51761	0.459000	0.35465	GAG		0.687	VPS37D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348064.1	NM_152560		G	73085354	A	G	73085354	3	3	746	1	0	0	0	0	1	0	0	0	17213	304	11	3	418	3	VPS37D	7	73085354	Missense_Mutation	SNP	A	TCGA-KO-8405-01A-11D-2310-10	72035692	73085354	86053309	25	43728											
PRSS3	5646	mdanderson.org	37	9	33796734	33796734	+	Missense_Mutation	SNP	C	C	A			TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr9:33796734C>A	ENST00000361005.5	+	2	305	c.305C>A	c.(304-306)tCc>tAc	p.S102Y	RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000429677.3_Missense_Mutation_p.S38Y|PRSS3_ENST00000379405.3_Missense_Mutation_p.S45Y|PRSS3_ENST00000342836.4_Missense_Mutation_p.S59Y	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3	102	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)			AATTCTGGCTCCCACTTCTGC	0.557																																																0													137	141	140					9																	33796734		2203	4300	6503	SO:0001583	missense	5646				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.305C>A	9.37:g.33796734C>A	ENSP00000354280:p.Ser102Tyr		A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	Missense_Mutation	SNP	ENST00000361005.5	37	CCDS47958.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.285213	0.00251	.	.	ENSG00000010438	ENST00000361005;ENST00000457896;ENST00000342836;ENST00000429677;ENST00000379405	D;D;D;D;D	0.89939	-2.59;-2.59;-2.59;-2.59;-2.59	3.21	2.03	0.26663	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.242652	0.43416	N	0.000563	T	0.79364	0.4433	L	0.42008	1.315	0.21579	N	0.999634	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.58612	-0.7606	10	0.02654	T	1	.	7.8678	0.29547	0.7856:0.2143:0.0:0.0	.	45;102;59	P35030-3;P35030;P35030-4	.;TRY3_HUMAN;.	Y	102;57;59;38;45	ENSP00000354280:S102Y;ENSP00000401249:S57Y;ENSP00000340889:S59Y;ENSP00000401828:S38Y;ENSP00000368715:S45Y	ENSP00000340889:S59Y	S	+	2	0	PRSS3	33786734	1.000000	0.71417	0.925000	0.36789	0.028000	0.11728	4.228000	0.58619	0.284000	0.22305	-0.886000	0.02939	TCC		0.557	PRSS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052121.1	NM_002771		A	33796734	C	A	33796734	3	1	746	1	0	0	0	0	1	0	0	0	12627	855	30	4	355	4	PRSS3	9	33796734	Missense_Mutation	SNP	C	TCGA-KO-8405-01A-11D-2310-10		33796734	107416697	26	43729											
C9orf79	286234	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	9	90500243	90500243	+	Missense_Mutation	SNP	C	C	G			TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr9:90500243C>G	ENST00000325643.5	+	4	907	c.841C>G	c.(841-843)Cta>Gta	p.L281V		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	281	Pro-rich.				cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GAGCTCCCCTCTACACAACCA	0.652																																																0													42	45	44					9																	90500243		2203	4300	6503	SO:0001583	missense	286234			AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 79", "family with sequence similarity 75, member E1"	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.841C>G	9.37:g.90500243C>G	ENSP00000322640:p.Leu281Val		B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	ENST00000325643.5	37	CCDS6676.1	.	.	.	.	.	.	.	.	.	.	.	7.466	0.645757	0.14451	.	.	ENSG00000177992	ENST00000325643	T	0.03524	3.9	1.89	-0.762	0.11034	.	0.834804	0.09796	N	0.754810	T	0.02888	0.0086	L	0.39898	1.24	0.09310	N	1	P	0.43094	0.799	B	0.36378	0.223	T	0.45818	-0.9235	10	0.13108	T	0.6	.	8.1474	0.31119	0.0:0.3695:0.6305:0.0	.	281	Q6ZUB1	CI079_HUMAN	V	281	ENSP00000322640:L281V	ENSP00000322640:L281V	L	+	1	2	C9orf79	89690063	0.001000	0.12720	0.000000	0.03702	0.010000	0.07245	0.117000	0.15583	-0.158000	0.11040	0.455000	0.32223	CTA		0.652	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		G	90500243	C	G	90500243	3	3	746	1	0	0	0	0	1	0	0	0	2499	912	32	4	855	4	C9orf79	9	90500243	Missense_Mutation	SNP	C	TCGA-KO-8405-01A-11D-2310-10	56703509	90500243	50713188	27	43730											
SARDH	1757	broad.mit.edu;bcgsc.ca	37	9	136550314	136550314	+	Splice_Site	SNP	C	C	A			TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr9:136550314C>A	ENST00000371872.4	-	17	2421		c.e17+1		SARDH_ENST00000422262.2_Splice_Site|SARDH_ENST00000439388.1_Splice_Site|SARDH_ENST00000371868.1_Splice_Site	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase						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)		CTGGAACCTACCAGGTGCCCT	0.662																																																0													86	65	72					9																	136550314		2203	4300	6503	SO:0001630	splice_region_variant	1757				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.2163+1G>T	9.37:g.136550314C>A			B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Splice_Site	SNP	ENST00000371872.4	37	CCDS6978.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.671051	0.67814	.	.	ENSG00000123453	ENST00000371872;ENST00000371868;ENST00000439388;ENST00000422262	.	.	.	4.27	4.27	0.50696	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2821	0.82697	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SARDH	135540135	1.000000	0.71417	1.000000	0.80357	0.709000	0.40893	6.689000	0.74562	1.922000	0.55676	0.462000	0.41574	.		0.662	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1		Intron	A	136550314	C	A	136550314	5	1	746	1	0	0	0	0	0	0	1	0	13847	521	18	4	612	4	SARDH	9	136550314	Splice_Site	SNP	C	TCGA-KO-8405-01A-11D-2310-10	46050071	136550314	4663117	28	43731											
MAN1B1	11253	broad.mit.edu	37	9	139990718	139990719	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr9:139990718_139990719insC	ENST00000371589.4	+	4	568_569	c.495_496insC	c.(496-498)cctfs	p.P166fs	SNORD62_ENST00000362541.1_RNA|MAN1B1_ENST00000474902.1_5'UTR	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	166					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)		AGCGGGGACCACCTCACCTGCA	0.574																																																0																																										SO:0001589	frameshift_variant	11253			AF145732	CCDS7029.1	9q34.3	2014-05-27			ENSG00000177239	ENSG00000177239			6823	protein-coding gene	gene with protein product	"endoplasmic reticulum alpha-mannosidase 1", "alpha 1,2-mannosidase", "endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1", "ER alpha 1,2-mannosidase", "Man9GlcNAc2-specific processing alpha-mannosidase"	604346				10409699, 10521544	Standard	NM_016219		Approved	MANA-ER, MRT15	uc004cld.3	Q9UKM7	OTTHUMG00000020978	ENST00000371589.4:c.497dupC	9.37:g.139990720_139990720dupC	ENSP00000360645:p.Pro166fs		Q5VSG3|Q9BRS9|Q9Y5K7	Frame_Shift_Ins	INS	ENST00000371589.4	37	CCDS7029.1																																																																																				0.574	MAN1B1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055294.2	NM_016219		C	139990719	-	C	139990718	7	5	746	1	0	1	1	0	0	0	0	0	9214	146	6	0	509	0	MAN1B1	9	139990718	Frame_Shift_Ins	INS	-	TCGA-KO-8405-01A-11D-2310-10	3440404	139990718	1222713	29	43732											
IDE	3416	broad.mit.edu	37	10	94223677	94223677	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr10:94223677A>G	ENST00000265986.6	-	21	2628	c.2572T>C	c.(2572-2574)Tac>Cac	p.Y858H	IDE_ENST00000496903.1_5'UTR|IDE_ENST00000371581.5_Missense_Mutation_p.Y303H	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	858					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)"	CTTTCTAGGTAGTGAGGTGGC	0.453																																																0													245	243	244					10																	94223677		2203	4300	6503	SO:0001583	missense	3416			M21188	CCDS7421.1, CCDS53554.1	10q23-q25	2007-03-27			ENSG00000119912	ENSG00000119912			5381	protein-coding gene	gene with protein product	"insulysin"	146680				2293021	Standard	NM_004969		Approved		uc001kia.3	P14735	OTTHUMG00000018759	ENST00000265986.6:c.2572T>C	10.37:g.94223677A>G	ENSP00000265986:p.Tyr858His		B2R721|B7ZAU2|D3DR35|Q5T5N2	Missense_Mutation	SNP	ENST00000265986.6	37	CCDS7421.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.304590	0.81136	.	.	ENSG00000119912	ENST00000265986;ENST00000371581	T;T	0.34275	1.39;1.37	5.61	4.48	0.54585	Peptidase M16, C-terminal (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.85682	D	0.000000	T	0.48786	0.1519	L	0.58428	1.81	0.80722	D	1	P;P	0.42993	0.55;0.797	P;P	0.56612	0.567;0.802	T	0.33979	-0.9847	10	0.25751	T	0.34	-10.3367	11.7351	0.51761	0.9308:0.0:0.0692:0.0	.	858;303	P14735;B3KSB8	IDE_HUMAN;.	H	858;303	ENSP00000265986:Y858H;ENSP00000360637:Y303H	ENSP00000265986:Y858H	Y	-	1	0	IDE	94213657	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.002000	0.93572	1.065000	0.40693	-0.256000	0.11100	TAC		0.453	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049393.1	NM_004969		G	94223677	A	G	94223677	3	3	746	1	0	0	0	0	1	0	0	0	7495	420	15	3	507	3	IDE	10	94223677	Missense_Mutation	SNP	A	TCGA-KO-8405-01A-11D-2310-10		94223677	41311070	30	43733											
MUC5B	727897	broad.mit.edu	37	11	1263525	1263526	+	Frame_Shift_Ins	INS	-	-	G	rs369279116		TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr11:1263525_1263526insG	ENST00000529681.1	+	31	5473_5474	c.5415_5416insG	c.(5416-5418)gggfs	p.G1806fs	MUC5B_ENST00000447027.1_Frame_Shift_Ins_p.G1809fs|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1806	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)		GGGTTGCAGGCGGGGACATGGA	0.579																																																0																																										SO:0001589	frameshift_variant	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.5419dupG	11.37:g.1263529_1263529dupG	ENSP00000436812:p.Gly1806fs		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Frame_Shift_Ins	INS	ENST00000529681.1	37	CCDS44515.2																																																																																				0.579	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		G	1263526	-	G	1263525	7	5	746	1	0	1	1	0	0	0	0	0	9981	755	27	0	5546	0	MUC5B	11	1263525	Frame_Shift_Ins	INS	-	TCGA-KO-8405-01A-11D-2310-10		1263525	133742991	31	43734											
OR4A5	81318	mdanderson.org	37	11	51412022	51412022	+	Missense_Mutation	SNP	C	C	G			TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr11:51412022C>G	ENST00000319760.6	-	1	426	c.374G>C	c.(373-375)tGt>tCt	p.C125S		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	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)|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)				CAGTGGCTTACAGATGGCCAC	0.473																																																0													73	69	70					11																	51412022		2201	4294	6495	SO:0001583	missense	81318			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.374G>C	11.37:g.51412022C>G	ENSP00000367664:p.Cys125Ser		Q6IF84	Missense_Mutation	SNP	ENST00000319760.6	37	CCDS31497.1	.	.	.	.	.	.	.	.	.	.	.	10.99	1.507356	0.27036	.	.	ENSG00000221840	ENST00000319760	T	0.33438	1.41	1.93	1.93	0.25924	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000083	T	0.40067	0.1102	M	0.89030	3	0.37900	D	0.931019	B	0.26195	0.144	B	0.30572	0.117	T	0.54970	-0.8213	10	0.72032	D	0.01	.	9.9079	0.41388	0.0:1.0:0.0:0.0	.	125	Q8NH83	OR4A5_HUMAN	S	125	ENSP00000367664:C125S	ENSP00000367664:C125S	C	-	2	0	OR4A5	51268598	1.000000	0.71417	1.000000	0.80357	0.443000	0.32047	4.721000	0.61951	1.394000	0.46624	0.162000	0.16502	TGT		0.473	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1	NM_001005272		G	51412022	C	G	51412022	3	3	746	1	0	0	0	0	1	0	0	0	11045	478	17	4	577	4	OR4A5	11	51412022	Missense_Mutation	SNP	C	TCGA-KO-8405-01A-11D-2310-10	50148497	51412022	83594494	32	43735											
OR4A16	81327	mdanderson.org	37	11	55111086	55111086	+	Missense_Mutation	SNP	T	T	A	rs78354885	byFrequency	TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr11:55111086T>A	ENST00000314721.2	+	1	460	c.410T>A	c.(409-411)cTg>cAg	p.L137Q		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	137						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|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						ATGAATCGACTGGTTTGCATC	0.468																																																0													179	162	168					11																	55111086		2201	4296	6497	SO:0001583	missense	81327			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.410T>A	11.37:g.55111086T>A	ENSP00000325128:p.Leu137Gln		Q6IFL3	Missense_Mutation	SNP	ENST00000314721.2	37	CCDS31499.1	.	.	.	.	.	.	.	.	.	.	a	0.003	-2.541719	0.00142	.	.	ENSG00000181961	ENST00000314721	T	0.37058	1.22	2.69	-1.28	0.09318	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.12732	0.0309	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.29701	-1.0003	9	0.07325	T	0.83	.	2.94	0.05826	0.5713:0.0:0.2415:0.1872	.	137	Q8NH70	O4A16_HUMAN	Q	137	ENSP00000325128:L137Q	ENSP00000325128:L137Q	L	+	2	0	OR4A16	54867662	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.859000	0.00727	-0.456000	0.07043	-2.168000	0.00324	CTG		0.468	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		A	55111086	T	A	55111086	3	1	746	1	0	0	0	0	1	0	0	0	11043	1580	55	5	412	5	OR4A16	11	55111086	Missense_Mutation	SNP	T	TCGA-KO-8405-01A-11D-2310-10	3699064	55111086	79895430	33	43736											
OR1S2	219958	mdanderson.org	37	11	57970980	57970980	+	Missense_Mutation	SNP	A	A	G	rs34249289|rs11229277	byFrequency	TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr11:57970980A>G	ENST00000302592.6	-	1	673	c.674T>C	c.(673-675)gTa>gCa	p.V225A		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	225			V -> A (in dbSNP:rs11229277).|V -> I (in dbSNP:rs11229278).			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)				GAAGATGAGTACAAAGGGGAA	0.458													a|||	423	0.0844649	0.0257	0.1138	5008	,	,		23120	0.0536		0.1083	False		,,,				2504	0.1503															0													164	137	146					11																	57970980		2201	4296	6497	SO:0001583	missense	219958			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.674T>C	11.37:g.57970980A>G	ENSP00000305469:p.Val225Ala		Q6IFG5|Q96R85	Missense_Mutation	SNP	ENST00000302592.6	37	CCDS31545.1	109	0.04990842490842491	13	0.026422764227642278	27	0.07458563535911603	19	0.033216783216783216	50	0.06596306068601583	a	5.168	0.216627	0.09810	.	.	ENSG00000197887	ENST00000302592	T	0.38240	1.15	4.75	-0.698	0.11280	GPCR, rhodopsin-like superfamily (1);	0.471664	0.17897	N	0.158338	T	0.01029	0.0034	N	0.17674	0.51	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.30238	-0.9985	9	0.02654	T	1	.	5.3927	0.16253	0.337:0.3756:0.2875:0.0	rs11229277;rs52800241;rs11229277	225	Q8NGQ3	OR1S2_HUMAN	A	225	ENSP00000305469:V225A	ENSP00000305469:V225A	V	-	2	0	OR1S2	57727556	0.000000	0.05858	0.260000	0.24451	0.836000	0.47400	0.422000	0.21296	0.053000	0.16036	-0.866000	0.03004	GTA		0.458	OR1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394703.2	NM_001004459		G	57970980	A	G	57970980	3	3	746	1	0	0	0	0	1	0	0	0	10975	391	14	3	306	3	OR1S2	11	57970980	Missense_Mutation	SNP	A	TCGA-KO-8405-01A-11D-2310-10	2859894	57970980	77035536	34	43737											
ATG2A	23130	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	11	64664287	64664287	+	Silent	SNP	G	G	A	rs180755321		TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr11:64664287G>A	ENST00000377264.3	-	38	5317	c.5205C>T	c.(5203-5205)gaC>gaT	p.D1735D	ATG2A_ENST00000421419.2_Silent_p.D1737D	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1735					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						TCTTGCGGATGTCCTGCAGCC	0.637											OREG0004026	type=REGULATORY REGION|Gene=BC027481|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	G|||	1	0.000199681	0.0	0.0	5008	,	,		17180	0.001		0.0	False		,,,				2504	0.0															0													53	53	53					11																	64664287		2201	4297	6498	SO:0001819	synonymous_variant	23130				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.5205C>T	11.37:g.64664287G>A		1078	O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Silent	SNP	ENST00000377264.3	37	CCDS31602.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	8.328	0.825936	0.16749	.	.	ENSG00000110046	ENST00000418259	.	.	.	4.05	-0.377	0.12501	.	.	.	.	.	T	0.53916	0.1826	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44651	-0.9314	4	.	.	.	.	7.9988	0.30284	0.4059:0.0:0.5941:0.0	.	.	.	.	Y	1539	.	.	H	-	1	0	ATG2A	64420863	0.997000	0.39634	0.997000	0.53966	0.848000	0.48234	0.323000	0.19593	-0.146000	0.11274	-0.367000	0.07326	CAT		0.637	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		A	64664287	G	A	64664287	2	1	746	1	0	0	0	0	0	0	0	1	1093	1368	48	2		2	ATG2A	11	64664287	Silent	SNP	G	TCGA-KO-8405-01A-11D-2310-10	6693307	64664287	70342229	35	43738											
FOLR2	2350	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	11	71932013	71932013	+	Missense_Mutation	SNP	G	G	A	rs74853303	byFrequency	TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr11:71932013G>A	ENST00000298223.6	+	3	437	c.250G>A	c.(250-252)Ggc>Agc	p.G84S	FOLR2_ENST00000449475.2_Missense_Mutation_p.G101S|FOLR2_ENST00000454954.2_Missense_Mutation_p.G43S	NM_000803.4|NM_001113534.1|NM_001113535.1|NM_001113536.1	NP_000794.3|NP_001107006.1|NP_001107007.1|NP_001107008.1	P14207	FOLR2_HUMAN	folate receptor 2 (fetal)	84					folic acid transport (GO:0015884)	anchored component of external side of plasma membrane (GO:0031362)|extracellular region (GO:0005576)|membrane (GO:0016020)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)			breast(3)|large_intestine(3)|ovary(1)|skin(1)	8					Folic Acid(DB00158)	GGACCACTGCGGCAAGATGGA	0.602													G|||	26	0.00519169	0.0182	0.0029	5008	,	,		12907	0.0		0.0	False		,,,				2504	0.0															0								G	SER/GLY,SER/GLY,SER/GLY,SER/GLY	57,4343	57.4+/-93.9	0,57,2143	40	41	41		250,250,250,250	0.6	0	11	dbSNP_131	41	0,8586		0,0,4293	yes	missense,missense,missense,missense	FOLR2	NM_000803.4,NM_001113534.1,NM_001113535.1,NM_001113536.1	56,56,56,56	0,57,6436	AA,AG,GG		0.0,1.2955,0.4389	benign,benign,benign,benign	84/256,84/256,84/256,84/256	71932013	57,12929	2200	4293	6493	SO:0001583	missense	2350			AK222539	CCDS8212.1	11q13.3-q14.1	2010-04-08			ENSG00000165457	ENSG00000165457			3793	protein-coding gene	gene with protein product		136425				1133088, 7698003	Standard	NM_000803		Approved		uc009ytf.3	P14207	OTTHUMG00000150394	ENST00000298223.6:c.250G>A	11.37:g.71932013G>A	ENSP00000298223:p.Gly84Ser		Q05CA5|Q6GTE8	Missense_Mutation	SNP	ENST00000298223.6	37	CCDS8212.1	19	0.0086996336996337	18	0.036585365853658534	1	0.0027624309392265192	0	0.0	0	0.0	g	13.67	2.307800	0.40795	0.012955	0.0	ENSG00000165457	ENST00000449475;ENST00000298223;ENST00000413873;ENST00000454954;ENST00000541003;ENST00000539412;ENST00000536778;ENST00000535625;ENST00000321324;ENST00000538353	T;T;T;T;T;T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22;-1.22;-1.22;-1.22;-1.22;-1.22	4.52	0.548	0.17208	Folate receptor-like (1);	0.130041	0.51477	N	0.000089	T	0.57533	0.2060	M	0.82517	2.595	0.41806	D	0.989941	D	0.63880	0.993	P	0.55391	0.775	T	0.72194	-0.4364	10	0.54805	T	0.06	.	8.3882	0.32512	0.3371:0.0:0.6629:0.0	.	84	P14207	FOLR2_HUMAN	S	101;84;101;43;130;95;99;84;97;84	ENSP00000405638:G101S;ENSP00000298223:G84S;ENSP00000414094:G43S;ENSP00000443307:G130S;ENSP00000441547:G95S;ENSP00000438568:G99S;ENSP00000444794:G84S;ENSP00000321957:G97S;ENSP00000440337:G84S	ENSP00000298223:G84S	G	+	1	0	FOLR2	71609661	0.998000	0.40836	0.018000	0.16275	0.154000	0.21943	2.691000	0.47010	-0.058000	0.13177	0.455000	0.32223	GGC		0.602	FOLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317923.2	NM_000803		A	71932013	G	A	71932013	3	1	746	1	0	0	0	0	1	0	0	0	5984	1116	39	1	256	1	FOLR2	11	71932013	Missense_Mutation	SNP	G	TCGA-KO-8405-01A-11D-2310-10	7267726	71932013	63074503	36	43739											
CSDA	8531	mdanderson.org	37	12	10875488	10875488	+	Missense_Mutation	SNP	T	T	C	rs1126501	byFrequency	TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr12:10875488T>C	ENST00000228251.4	-	1	423	c.223A>G	c.(223-225)Acc>Gcc	p.T75A	YBX3_ENST00000279550.7_Missense_Mutation_p.T75A	NM_003651.4	NP_003642.3	P16989	YBOX3_HUMAN	Y box binding protein 3	75			T -> A (in dbSNP:rs1126501). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:2977358, ECO:0000269|PubMed:7628487}.		3'-UTR-mediated mRNA stabilization (GO:0070935)|cellular hyperosmotic response (GO:0071474)|cellular response to tumor necrosis factor (GO:0071356)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of necroptotic process (GO:0060546)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytoplasmic translation (GO:2000767)|positive regulation of organ growth (GO:0046622)|response to cold (GO:0009409)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|tight junction (GO:0005923)	double-stranded DNA binding (GO:0003690)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|Rho GTPase binding (GO:0017048)|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)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)										Ccggcggcggtggctaaagag	0.776													T|||	1419	0.283347	0.1445	0.2824	5008	,	,		8539	0.5069		0.1779	False		,,,				2504	0.3497															0								T	ALA/THR,ALA/THR	475,3499		27,421,1539	5	5	5		223,223	-2.8	0.2	12	dbSNP_86	5	980,6780		49,882,2949	yes	missense,missense	CSDA	NM_003651.4,NM_001145426.1	58,58	76,1303,4488	CC,CT,TT		12.6289,11.9527,12.3999	benign,benign	75/373,75/304	10875488	1455,10279	1987	3880	5867	SO:0001583	missense	8531			L29064	CCDS8630.1, CCDS44831.1	12p13.1	2013-03-13	2013-03-13	2013-03-13	ENSG00000060138	ENSG00000060138			2428	protein-coding gene	gene with protein product	"cold-shock domain containing A1"	603437	"cold shock domain protein A"	CSDA		2977358, 8710501	Standard	NM_003651		Approved	dbpA, ZONAB, CSDA1	uc001qyt.3	P16989	OTTHUMG00000168409	ENST00000228251.4:c.223A>G	12.37:g.10875488T>C	ENSP00000228251:p.Thr75Ala		B2RBW6|Q14121|Q969N6|Q96B76	Missense_Mutation	SNP	ENST00000228251.4	37	CCDS8630.1	603	0.2760989010989011	81	0.16463414634146342	114	0.3149171270718232	280	0.48951048951048953	128	0.16886543535620052	T	3.109	-0.183165	0.06340	0.119527	0.126289	ENSG00000060138	ENST00000279550;ENST00000228251	T;T	0.20881	2.04;2.09	1.88	-2.83	0.05769	.	0.173369	0.26439	N	0.024375	T	0.00012	0.0000	N	0.01705	-0.755	0.51767	P	6.700000000003925E-5	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.32877	-0.9890	9	0.08179	T	0.78	.	3.6567	0.08223	0.0:0.1732:0.4872:0.3397	rs1126501;rs3181559;rs11538063;rs17850397;rs17851939;rs17856315	75;75	P16989-2;P16989	.;DBPA_HUMAN	A	75	ENSP00000279550:T75A;ENSP00000228251:T75A	ENSP00000228251:T75A	T	-	1	0	CSDA	10766755	0.976000	0.34144	0.193000	0.23327	0.876000	0.50452	-0.117000	0.10708	-0.712000	0.04988	0.260000	0.18958	ACC		0.776	YBX3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399628.1	NM_003651		C	10875488	T	C	10875488	3	2	746	1	0	0	0	0	1	0	0	0	3929	1696	59	3	931	3	CSDA	12	10875488	Missense_Mutation	SNP	T	TCGA-KO-8405-01A-11D-2310-10		10875488	122976407	37	43740											
HOXC9	3225	mdanderson.org	37	12	54394497	54394497	+	Silent	SNP	C	C	T	rs2241820	byFrequency	TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr12:54394497C>T	ENST00000303450.4	+	1	595	c.525C>T	c.(523-525)gcC>gcT	p.A175A	HOXC-AS1_ENST00000512427.1_RNA|HOXC9_ENST00000504557.1_Intron|HOXC-AS1_ENST00000505700.1_RNA|HOXC9_ENST00000508190.1_Silent_p.A175A|RP11-834C11.12_ENST00000513209.1_Intron	NM_006897.1	NP_008828.1	P31274	HXC9_HUMAN	homeobox C9	175					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						AGGAGAAGGCCGACCTGGACC	0.692													C|||	2895	0.578075	0.4667	0.5346	5008	,	,		12030	0.7609		0.6014	False		,,,				2504	0.547															0								C		1809,1381		539,731,325	6	7	7		525	1.1	1	12	dbSNP_98	7	4221,2551		1360,1501,525	no	coding-synonymous	HOXC9	NM_006897.1		1899,2232,850	TT,TC,CC		37.6698,43.2915,39.47		175/261	54394497	6030,3932	1595	3386	4981	SO:0001819	synonymous_variant	3225				CCDS8869.1	12q13.13	2011-06-20	2005-12-22			ENSG00000180806		"Homeoboxes / ANTP class : HOXL subclass"	5130	protein-coding gene	gene with protein product		142971	"homeo box C9"	HOX3, HOX3B		1973146	Standard	NM_006897		Approved		uc001seq.3	P31274		ENST00000303450.4:c.525C>T	12.37:g.54394497C>T			B2RCN7|Q9H1I0	Silent	SNP	ENST00000303450.4	37	CCDS8869.1																																																																																				0.692	HOXC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358958.1			T	54394497	C	T	54394497	2	4	746	1	0	0	0	0	0	0	0	1	7319	639	23	1		1	HOXC9	12	54394497	Silent	SNP	C	TCGA-KO-8405-01A-11D-2310-10	43519009	54394497	79457398	38	43741											
GALNT4	8693	bcgsc.ca	37	12	89918149	89918149	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr12:89918149A>G	ENST00000529983.2	-	1	434	c.178T>C	c.(178-180)Tct>Cct	p.S60P	GALNT4_ENST00000413530.1_Intron|POC1B_ENST00000541909.1_Intron|POC1B_ENST00000393179.4_Intron|POC1B-GALNT4_ENST00000547474.1_Intron|RP11-734K2.4_ENST00000605233.1_RNA|POC1B_ENST00000549504.1_Intron|POC1B_ENST00000313546.3_Intron|POC1B-GALNT4_ENST00000548729.1_Missense_Mutation_p.S57P|POC1B_ENST00000549035.1_Intron	NM_003774.4	NP_003765.2	Q8N4A0	GALT4_HUMAN	polypeptide N-acetylgalactosaminyltransferase 4	60					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						AGCGGTCGAGACAAATCCTCC	0.562											OREG0022018	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													65	69	68					12																	89918149		1846	4092	5938	SO:0001583	missense	100528030			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.178T>C	12.37:g.89918149A>G	ENSP00000436604:p.Ser60Pro	1271	B2R775|B4DMX6|O00208	Missense_Mutation	SNP	ENST00000529983.2	37	CCDS53817.1	.	.	.	.	.	.	.	.	.	.	A	9.270	1.045405	0.19748	.	.	ENSG00000259075;ENSG00000257594	ENST00000548729;ENST00000529983	T;T	0.53857	0.6;0.6	5.77	4.57	0.56435	.	.	.	.	.	T	0.42200	0.1192	L	0.29908	0.895	0.29763	N	0.835364	P;P	0.41265	0.744;0.682	B;B	0.40825	0.341;0.116	T	0.33240	-0.9876	9	0.30854	T	0.27	.	11.7429	0.51803	0.7536:0.2464:0.0:0.0	.	57;60	F8VUJ3;Q8N4A0	.;GALT4_HUMAN	P	57;60	ENSP00000447852:S57P;ENSP00000436604:S60P	ENSP00000436604:S60P	S	-	1	0	GALNT4;RP11-1109F11.4	88442280	1.000000	0.71417	0.984000	0.44739	0.055000	0.15305	1.247000	0.32815	2.198000	0.70561	0.533000	0.62120	TCT		0.562	GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388973.2	NM_003774		G	89918149	A	G	89918149	3	3	746	1	0	0	0	0	1	0	0	0	6217	275	10	3	1562	3	GALNT4	12	89918149	Missense_Mutation	SNP	A	TCGA-KO-8405-01A-11D-2310-10	35523652	89918149	43933746	39	43742											
ZFP106	64397	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	15	42720229	42720229	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr15:42720229G>A	ENST00000263805.4	-	12	5242	c.4916C>T	c.(4915-4917)aCc>aTc	p.T1639I	RNU6-188P_ENST00000364207.1_RNA|ZNF106_ENST00000565380.1_Missense_Mutation_p.T867I|ZNF106_ENST00000565611.1_Missense_Mutation_p.T824I	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	1639					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)										TATGTTGAAGGTGACCACAGT	0.512																																																0													171	138	150					15																	42720229		2203	4299	6502	SO:0001583	missense	64397			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.4916C>T	15.37:g.42720229G>A	ENSP00000263805:p.Thr1639Ile		B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Missense_Mutation	SNP	ENST00000263805.4	37	CCDS32208.1	.	.	.	.	.	.	.	.	.	.	G	19.22	3.785110	0.70222	.	.	ENSG00000103994	ENST00000263805;ENST00000434903	T	0.14266	2.52	5.26	5.26	0.73747	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.101382	0.64402	D	0.000002	T	0.25419	0.0618	L	0.29908	0.895	0.80722	D	1	D;D;D	0.63880	0.993;0.993;0.993	P;P;P	0.62435	0.881;0.902;0.881	T	0.00577	-1.1662	10	0.42905	T	0.14	-9.4294	19.1213	0.93365	0.0:0.0:1.0:0.0	.	867;1639;867	E9PE29;Q9H2Y7;B4DZ40	.;ZF106_HUMAN;.	I	1639;867	ENSP00000263805:T1639I	ENSP00000263805:T1639I	T	-	2	0	ZFP106	40507521	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.960000	0.70348	2.753000	0.94483	0.650000	0.86243	ACC		0.512	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		A	42720229	G	A	42720229	3	1	746	1	0	0	0	0	1	0	0	0	17642	1261	44	2	767	2	ZFP106	15	42720229	Missense_Mutation	SNP	G	TCGA-KO-8405-01A-11D-2310-10		42720229	59811163	40	43743											
WDR90	197335	mdanderson.org	37	16	705360	705360	+	Missense_Mutation	SNP	T	T	C	rs3803697	byFrequency	TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr16:705360T>C	ENST00000293879.4	+	15	1610	c.1610T>C	c.(1609-1611)gTg>gCg	p.V537A	LA16c-349E10.1_ENST00000573609.1_RNA|WDR90_ENST00000549091.1_Missense_Mutation_p.V537A			Q96KV7	WDR90_HUMAN	WD repeat domain 90	537			V -> A (in dbSNP:rs3803697). {ECO:0000269|PubMed:15489334}.							endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CGTGGCGGGGTGCTGCGTTCC	0.706													C|||	3489	0.696685	0.8744	0.5965	5008	,	,		15360	0.9841		0.3757	False		,,,				2504	0.5613															0								C	ALA/VAL	3355,989		1322,711,139	17	29	25		1610	-9.3	0	16	dbSNP_107	25	3028,5518		558,1912,1803	yes	missense	WDR90	NM_145294.4	64	1880,2623,1942	CC,CT,TT		35.4318,22.767,49.519	benign	537/1749	705360	6383,6507	2172	4273	6445	SO:0001583	missense	197335			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.1610T>C	16.37:g.705360T>C	ENSP00000293879:p.Val537Ala		Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	ENST00000293879.4	37	CCDS42092.1	1465	0.6707875457875457	417	0.8475609756097561	197	0.5441988950276243	562	0.9825174825174825	289	0.3812664907651715	C	0.015	-1.540982	0.00934	0.77233	0.354318	ENSG00000161996	ENST00000549091;ENST00000293879	T;T	0.26067	1.8;1.76	4.67	-9.34	0.00636	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	1.118960	0.07045	N	0.830877	T	0.00012	0.0000	L	0.29908	0.895	0.80722	P	0.0	B;B;B;B	0.06786	0.0;0.0;0.0;0.001	B;B;B;B	0.04013	0.0;0.0;0.0;0.001	T	0.23261	-1.0193	9	0.07813	T	0.8	.	1.8074	0.03084	0.3135:0.1797:0.0853:0.4215	rs3803697	537;537;538;537	F8VUX9;Q96KV7;C9JMK1;Q96KV7-3	.;WDR90_HUMAN;.;.	A	537	ENSP00000448122:V537A;ENSP00000293879:V537A	ENSP00000293879:V537A	V	+	2	0	WDR90	645361	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.586000	0.05787	-3.437000	0.00163	-2.865000	0.00100	GTG		0.706	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294		C	705360	T	C	705360	3	2	746	1	0	0	0	0	1	0	0	0	17342	1696	59	3	1668	3	WDR90	16	705360	Missense_Mutation	SNP	T	TCGA-KO-8405-01A-11D-2310-10		705360	89649393	41	43744											
ZNF205	7755	broad.mit.edu	37	16	3169758	3169759	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr16:3169758_3169759insC	ENST00000382192.3	+	7	1302_1303	c.1097_1098insC	c.(1096-1101)tgccccfs	p.CP366fs	RP11-473M20.14_ENST00000576490.1_RNA|ZNF205_ENST00000219091.4_Frame_Shift_Ins_p.CP366fs|RP11-473M20.14_ENST00000575139.1_RNA	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN	zinc finger protein 205	366					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						CCCTACACCTGCCCCGCCTGCC	0.653																																																0																																										SO:0001589	frameshift_variant	7755			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.1101dupC	16.37:g.3169762_3169762dupC	ENSP00000371627:p.Cys366fs		A8MZK0|D3DUB4|Q9BU95	Frame_Shift_Ins	INS	ENST00000382192.3	37	CCDS10494.2																																																																																				0.653	ZNF205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309057.1	NM_003456		C	3169759	-	C	3169758	7	5	746	1	0	1	1	0	0	0	0	0	17769	1319	46	0	1119	0	ZNF205	16	3169758	Frame_Shift_Ins	INS	-	TCGA-KO-8405-01A-11D-2310-10	2464398	3169758	87184995	42	43745											
CREBBP	1387	broad.mit.edu	37	16	3817815	3817815	+	Silent	SNP	T	T	C			TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr16:3817815T>C	ENST00000262367.5	-	16	3965	c.3156A>G	c.(3154-3156)aaA>aaG	p.K1052K	CREBBP_ENST00000382070.3_Silent_p.K1014K	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1052					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TCACTTCAGGTTTCTTTTCAT	0.443			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																																Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	0													254	226	235					16																	3817815		2197	4300	6497	SO:0001819	synonymous_variant	1387			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.3156A>G	16.37:g.3817815T>C			D3DUC9|O00147|Q16376|Q4LE28	Silent	SNP	ENST00000262367.5	37	CCDS10509.1																																																																																				0.443	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		C	3817815	T	C	3817815	2	2	746	1	0	0	0	0	0	0	0	1	3863	1722	60	3		3	CREBBP	16	3817815	Silent	SNP	T	TCGA-KO-8405-01A-11D-2310-10	648057	3817815	86536938	43	43746											
NOB1	28987	bcgsc.ca	37	16	69783533	69783533	+	Splice_Site	SNP	C	C	T			TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr16:69783533C>T	ENST00000268802.5	-	4	357	c.328G>A	c.(328-330)Gtt>Att	p.V110I		NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	110					visual perception (GO:0007601)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CTCACCTTAACCTTTAAAAAA	0.413																																																0													62	59	60					16																	69783533		2198	4300	6498	SO:0001630	splice_region_variant	28987			AB026125	CCDS10884.1	16q22.1	2008-02-05	2006-04-20	2006-04-20	ENSG00000141101	ENSG00000141101			29540	protein-coding gene	gene with protein product	"nin one binding protein"	613586	"PSMD8 binding protein 1"	PSMD8BP1		16172919	Standard	NM_014062		Approved	NOB1P, ART-4, MST158	uc002exs.4	Q9ULX3	OTTHUMG00000137576	ENST00000268802.5:c.328-1G>A	16.37:g.69783533C>T			Q7L6B7|Q7M4M4|Q7Z4B5|Q9NWB0	Missense_Mutation	SNP	ENST00000268802.5	37	CCDS10884.1	.	.	.	.	.	.	.	.	.	.	C	11.13	1.549058	0.27652	.	.	ENSG00000141101	ENST00000268802	T	0.31247	1.5	4.61	4.61	0.57282	.	0.241768	0.41500	D	0.000871	T	0.22859	0.0552	N	0.25201	0.72	0.58432	D	0.999999	B	0.13594	0.008	B	0.17098	0.017	T	0.04495	-1.0947	9	.	.	.	.	17.5775	0.87955	0.0:1.0:0.0:0.0	.	110	Q9ULX3	NOB1_HUMAN	I	110	ENSP00000268802:V110I	.	V	-	1	0	NOB1	68341034	1.000000	0.71417	0.997000	0.53966	0.262000	0.26303	2.682000	0.46934	2.555000	0.86185	0.555000	0.69702	GTT		0.413	NOB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268958.2	NM_014062	Missense_Mutation	T	69783533	C	T	69783533	5	4	746	1	0	0	0	0	0	0	1	0	10513	521	18	2	934	2	NOB1	16	69783533	Splice_Site	SNP	C	TCGA-KO-8405-01A-11D-2310-10	65965718	69783533	20571220	44	43747											
ODF4	146852	hgsc.bcm.edu;bcgsc.ca	37	17	8249105	8249105	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr17:8249105A>G	ENST00000328248.2	+	3	897	c.709A>G	c.(709-711)Atc>Gtc	p.I237V	ODF4_ENST00000584943.1_Missense_Mutation_p.I122V	NM_153007.4	NP_694552.2	Q2M2E3	ODFP4_HUMAN	outer dense fiber of sperm tails 4	237					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|outer dense fiber (GO:0001520)				endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)	8						GGCACAGACGATCACAGACAC	0.522																																																0													95	93	94					17																	8249105		2203	4300	6503	SO:0001583	missense	146852			AB081120	CCDS11140.1	17p13	2010-09-27			ENSG00000184650	ENSG00000184650			19056	protein-coding gene	gene with protein product	"cancer/testis antigen 136"	610097					Standard	NM_153007		Approved	OPPO1, CT136	uc002gle.1	Q2M2E3	OTTHUMG00000108190	ENST00000328248.2:c.709A>G	17.37:g.8249105A>G	ENSP00000331086:p.Ile237Val		Q8J021	Missense_Mutation	SNP	ENST00000328248.2	37	CCDS11140.1	.	.	.	.	.	.	.	.	.	.	A	5.538	0.284119	0.10513	.	.	ENSG00000184650	ENST00000328248	T	0.22945	1.93	3.42	-5.82	0.02333	.	2.102490	0.02578	N	0.098545	T	0.07818	0.0196	N	0.04508	-0.205	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.20273	-1.0280	10	0.06891	T	0.86	-1.5999	0.3507	0.00348	0.3221:0.1411:0.2745:0.2624	.	237	Q2M2E3	ODFP4_HUMAN	V	237	ENSP00000331086:I237V	ENSP00000331086:I237V	I	+	1	0	ODF4	8189830	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.834000	0.04391	-1.193000	0.02688	-0.371000	0.07208	ATC		0.522	ODF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226996.1			G	8249105	A	G	8249105	3	3	746	1	0	0	0	0	1	0	0	0	10835	333	12	3	719	3	ODF4	17	8249105	Missense_Mutation	SNP	A	TCGA-KO-8405-01A-11D-2310-10		8249105	72946105	45	43748											
PLEKHM1	9842	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	17	43523003	43523003	+	Silent	SNP	C	C	G			TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr17:43523003C>G	ENST00000430334.3	-	9	2803	c.2670G>C	c.(2668-2670)ctG>ctC	p.L890L	PLEKHM1_ENST00000580404.1_5'UTR|PLEKHM1_ENST00000421073.2_Silent_p.L801L	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	890					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)					GGATCTGTGTCAGAAACTTCA	0.602																																																0													64	60	61					17																	43523003		2201	4300	6501	SO:0001819	synonymous_variant	9842			X85792	CCDS32671.1	17q21.31	2013-01-11				ENSG00000225190		"Pleckstrin homology (PH) domain containing"	29017	protein-coding gene	gene with protein product		611466				9205841, 12820725	Standard	NM_014798		Approved	KIAA0356	uc002ija.3	Q9Y4G2		ENST00000430334.3:c.2670G>C	17.37:g.43523003C>G			Q6P2R5|Q8TEL9|Q9NPP5|Q9NYA0	Silent	SNP	ENST00000430334.3	37	CCDS32671.1																																																																																				0.602	PLEKHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444659.1	NM_014798		G	43523003	C	G	43523003	2	3	746	1	0	0	0	0	0	0	0	1	12082	813	29	4		4	PLEKHM1	17	43523003	Silent	SNP	C	TCGA-KO-8405-01A-11D-2310-10	35273898	43523003	37672207	46	43749											
EPN3	55040	mdanderson.org	37	17	48619290	48619290	+	Silent	SNP	G	G	A	rs112657244	byFrequency	TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr17:48619290G>A	ENST00000268933.3	+	10	2250	c.1671G>A	c.(1669-1671)ccG>ccA	p.P557P	EPN3_ENST00000537145.1_Silent_p.P585P|EPN3_ENST00000541226.1_3'UTR	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	557	3 X 3 AA repeats of N-P-F.					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)			CCGGCTCGCCGGCGCTGGGCC	0.726													G|||	195	0.0389377	0.0038	0.0418	5008	,	,		9711	0.0188		0.0984	False		,,,				2504	0.044															0								G		91,4245		4,83,2081	9	12	11		1671	-9.4	0	17	dbSNP_132	11	770,7712		27,716,3498	no	coding-synonymous	EPN3	NM_017957.2		31,799,5579	AA,AG,GG		9.078,2.0987,6.7171		557/633	48619290	861,11957	2168	4241	6409	SO:0001819	synonymous_variant	55040			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.1671G>A	17.37:g.48619290G>A			A8K6J3|A8KAB2|Q9BVN6|Q9NWK2	Silent	SNP	ENST00000268933.3	37	CCDS11570.1																																																																																				0.726	EPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367573.1	NM_017957		A	48619290	G	A	48619290	2	1	746	1	0	0	0	0	0	0	0	1	5189	1103	39	1		1	EPN3	17	48619290	Silent	SNP	G	TCGA-KO-8405-01A-11D-2310-10	5096287	48619290	32575920	47	43750											
SSTR2	6752	hgsc.bcm.edu	37	17	71166135	71166135	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr17:71166135T>C	ENST00000357585.2	+	2	1046	c.677T>C	c.(676-678)cTt>cCt	p.L226P	RP11-143K11.5_ENST00000580671.1_RNA|SSTR2_ENST00000315332.2_Missense_Mutation_p.L226P	NM_001050.2	NP_001041.1	P30874	SSR2_HUMAN	somatostatin receptor 2	226					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|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)|negative regulation of cell proliferation (GO:0008285)|peristalsis (GO:0030432)|regulation of muscle contraction (GO:0006937)|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)	PDZ domain binding (GO:0030165)|somatostatin receptor activity (GO:0004994)			endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)		Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	ATCATCTGTCTTTGCTACCTG	0.502																																																0													129	120	123					17																	71166135		2203	4300	6503	SO:0001583	missense	6752				CCDS11691.1	17q24	2012-08-08				ENSG00000180616		"GPCR / Class A : Somatostatin receptors"	11331	protein-coding gene	gene with protein product		182452				8449518	Standard	NM_001050		Approved		uc002jje.3	P30874		ENST00000357585.2:c.677T>C	17.37:g.71166135T>C	ENSP00000350198:p.Leu226Pro		A8K3Y0|B2R9P7|Q4VBP0|Q96GE0|Q96TF2|Q9BWH1	Missense_Mutation	SNP	ENST00000357585.2	37	CCDS11691.1	.	.	.	.	.	.	.	.	.	.	T	18.60	3.659722	0.67586	.	.	ENSG00000180616	ENST00000357585;ENST00000315332	T;T	0.39787	1.06;1.06	5.64	5.64	0.86602	GPCR, rhodopsin-like superfamily (1);	0.063672	0.64402	D	0.000004	T	0.66626	0.2808	M	0.80183	2.485	0.80722	D	1	D	0.69078	0.997	D	0.73380	0.98	T	0.71833	-0.4473	10	0.87932	D	0	.	15.5193	0.75854	0.0:0.0:0.0:1.0	.	226	P30874	SSR2_HUMAN	P	226	ENSP00000350198:L226P;ENSP00000326616:L226P	ENSP00000326616:L226P	L	+	2	0	SSTR2	68677730	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.036000	0.88901	2.147000	0.66899	0.533000	0.62120	CTT		0.502	SSTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441633.1			C	71166135	T	C	71166135	3	2	746	1	0	0	0	0	1	0	0	0	15203	1609	56	3	679	3	SSTR2	17	71166135	Missense_Mutation	SNP	T	TCGA-KO-8405-01A-11D-2310-10	22546845	71166135	10029075	48	43751											
PRKCSH	5589	hgsc.bcm.edu;mdanderson.org	37	19	11558367	11558367	+	Silent	SNP	G	G	A			TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr19:11558367G>A	ENST00000589838.1	+	10	963	c.963G>A	c.(961-963)gaG>gaA	p.E321E	PRKCSH_ENST00000587327.1_Silent_p.E321E|PRKCSH_ENST00000592741.1_Silent_p.E321E|PRKCSH_ENST00000412601.1_Silent_p.E321E|PRKCSH_ENST00000252455.2_Silent_p.E321E|PRKCSH_ENST00000591462.1_Silent_p.E321E			P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	321	Glu-rich (acidic).				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)	p.E321_E322delEE(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						aggaggaggaggaggaagaag	0.632																																																1	Deletion - In frame(1)	central_nervous_system(1)											28	28	28					19																	11558367		2200	4298	6498	SO:0001819	synonymous_variant	5589				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.963G>A	19.37:g.11558367G>A			A8K318|Q96BU9|Q96D06|Q9P0W9	Silent	SNP	ENST00000589838.1	37	CCDS32911.1																																																																																				0.632	PRKCSH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458817.1			A	11558367	G	A	11558367	2	1	746	1	0	0	0	0	0	0	0	1	12521	991	35	2		2	PRKCSH	19	11558367	Silent	SNP	G	TCGA-KO-8405-01A-11D-2310-10		11558367	47570616	49	43752											
ZNF793	390927	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	19	38028153	38028153	+	Missense_Mutation	SNP	C	C	G			TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr19:38028153C>G	ENST00000587143.1	+	6	828	c.593C>G	c.(592-594)aCc>aGc	p.T198S	ZNF793_ENST00000588578.1_3'UTR|ZNF793_ENST00000589319.1_Intron|ZNF793_ENST00000445217.1_Missense_Mutation_p.T198S|ZNF793_ENST00000542455.1_Missense_Mutation_p.T198S			Q6ZN11	ZN793_HUMAN	zinc finger protein 793	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)			kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAAGCTTTCACCCAGAACCCG	0.463																																					Melanoma(44;400 1431 1499 19093)											0													34	34	34					19																	38028153		1869	4106	5975	SO:0001583	missense	390927			AK131417	CCDS46062.1	19q13.12	2013-01-08				ENSG00000188227		"Zinc fingers, C2H2-type", "-"	33115	protein-coding gene	gene with protein product							Standard	NM_001013659		Approved		uc010efm.3	Q6ZN11		ENST00000587143.1:c.593C>G	19.37:g.38028153C>G	ENSP00000468605:p.Thr198Ser		E9PGN4|Q7Z3Q9	Missense_Mutation	SNP	ENST00000587143.1	37	CCDS46062.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.516748	0.00151	.	.	ENSG00000188227	ENST00000542455;ENST00000418827;ENST00000445217;ENST00000322299	T;T	0.14391	2.51;2.51	4.02	2.94	0.34122	.	0.307194	0.23762	N	0.044815	T	0.03959	0.0111	N	0.02111	-0.68	0.20975	N	0.999816	B	0.02656	0.0	B	0.01281	0.0	T	0.42749	-0.9433	10	0.02654	T	1	.	9.5982	0.39587	0.0:0.2693:0.7307:0.0	.	198	E9PGN4	.	S	198;198;198;197	ENSP00000444355:T198S;ENSP00000396402:T198S	ENSP00000318811:T197S	T	+	2	0	ZNF793	42719993	0.000000	0.05858	0.266000	0.24541	0.069000	0.16628	-1.377000	0.02558	0.981000	0.38548	-0.228000	0.12330	ACC		0.463	ZNF793-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458621.1	NM_001013659		G	38028153	C	G	38028153	3	3	746	1	0	0	0	0	1	0	0	0	18170	507	18	4	607	4	ZNF793	19	38028153	Missense_Mutation	SNP	C	TCGA-KO-8405-01A-11D-2310-10	26469786	38028153	21100830	50	43753											
CNTD2	79935	broad.mit.edu	37	19	40730638	40730639	+	Frame_Shift_Ins	INS	-	-	C	rs199816045		TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr19:40730638_40730639insC	ENST00000430325.2	-	2	395_396	c.347_348insG	c.(346-348)gtcfs	p.V116fs	CNTD2_ENST00000513948.1_Frame_Shift_Ins_p.V10fs|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						CGTGCACCTGGACCAGCCAGTC	0.698																																																0																																										SO:0001589	frameshift_variant	79935			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.347_348insG	19.37:g.40730638_40730639insC	ENSP00000396755:p.Val116fs		B4DX65	Frame_Shift_Ins	INS	ENST00000430325.2	37	CCDS12551.2																																																																																				0.698	CNTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360785.1	NM_024877		C	40730639	-	C	40730638	7	5	746	1	0	1	1	0	0	0	0	0	3638	1161	41	0	591	0	CNTD2	19	40730638	Frame_Shift_Ins	INS	-	TCGA-KO-8405-01A-11D-2310-10	2702485	40730638	18398345	51	43754											
ZNF233	353355	broad.mit.edu	37	19	44778459	44778459	+	Missense_Mutation	SNP	C	C	T	rs200116301		TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr19:44778459C>T	ENST00000391958.2	+	5	1773	c.1646C>T	c.(1645-1647)tCg>tTg	p.S549L	ZNF233_ENST00000334152.1_Missense_Mutation_p.S531L|ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000592581.1_3'UTR	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	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)			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				AGTCAGAGTTCGCATCTCCAA	0.468													C|||	1	0.000199681	0.0	0.0	5008	,	,		22501	0.0		0.001	False		,,,				2504	0.0															0								C	LEU/SER,LEU/SER	1,4405	2.1+/-5.4	0,1,2202	103	93	96		1646,1646	1.6	0	19		96	0,8600		0,0,4300	no	missense,missense	ZNF233	NM_181756.2,NM_001207005.1	145,145	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	549/671,549/671	44778459	1,13005	2203	4300	6503	SO:0001583	missense	353355			AY166792	CCDS33047.1	19q13.31	2013-01-08				ENSG00000159915		"Zinc fingers, C2H2-type", "-"	30946	protein-coding gene	gene with protein product						12743021	Standard	NM_001207005		Approved	FLJ38032	uc021uvi.1	A6NK53		ENST00000391958.2:c.1646C>T	19.37:g.44778459C>T	ENSP00000375820:p.Ser549Leu		B2RN78|B2RN79|Q86WL8	Missense_Mutation	SNP	ENST00000391958.2	37	CCDS33047.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	14.72	2.619655	0.46736	2.27E-4	0.0	ENSG00000159915	ENST00000334152;ENST00000391958;ENST00000280305	T;T	0.07444	3.19;3.19	3.87	1.56	0.23342	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11067	0.0270	M	0.77313	2.365	0.09310	N	1	B	0.34181	0.44	B	0.20955	0.032	T	0.09122	-1.0689	9	0.87932	D	0	-2.1334	10.7398	0.46147	0.4941:0.5059:0.0:0.0	.	549	A6NK53	ZN233_HUMAN	L	531;549;444	ENSP00000334957:S531L;ENSP00000375820:S549L	ENSP00000280305:S444L	S	+	2	0	ZNF233	49470299	0.000000	0.05858	0.001000	0.08648	0.841000	0.47740	0.427000	0.21379	0.194000	0.20326	0.609000	0.83330	TCG		0.468	ZNF233-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000460737.1	NM_181756		T	44778459	C	T	44778459	3	4	746	1	0	0	0	0	1	0	0	0	17791	893	31	1	1660	1	ZNF233	19	44778459	Missense_Mutation	SNP	C	TCGA-KO-8405-01A-11D-2310-10	4047821	44778459	14350524	52	43755											
LILRB3	11025	mdanderson.org	37	19	54724407	54724407	+	Missense_Mutation	SNP	C	C	T	rs1132608	byFrequency	TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr19:54724407C>T	ENST00000391750.1	-	7	1385	c.1249G>A	c.(1249-1251)Gtg>Atg	p.V417M	LILRA6_ENST00000270464.5_Missense_Mutation_p.V417M|LILRB3_ENST00000469273.1_5'UTR|LILRB3_ENST00000346401.6_Missense_Mutation_p.V417M|LILRB3_ENST00000424807.1_Missense_Mutation_p.V417M|LILRB3_ENST00000245620.9_Missense_Mutation_p.V417M|LILRA6_ENST00000391735.3_Intron|LILRA6_ENST00000419410.2_Intron|LILRA6_ENST00000440558.2_Missense_Mutation_p.V417M|LILRB3_ENST00000407860.2_Missense_Mutation_p.V417M			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	417	Ig-like C2-type 4.			V -> M (in Ref. 1; AAB68668). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	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)		CCTGAGACCACGAGCTCCAGG	0.662													.|||	1775	0.354433	0.1573	0.3213	5008	,	,		7150	0.3919		0.4056	False		,,,				2504	0.5532															0													22	12	16					19																	54724407		2016	2580	4596	SO:0001583	missense	11025			U91928	CCDS33105.1, CCDS46175.1	19q13.4	2013-01-11			ENSG00000204577	ENSG00000204577		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6607	protein-coding gene	gene with protein product		604820				9278324, 9382880	Standard	NM_006864		Approved	LIR-3, HL9, ILT5, LIR3, CD85a	uc002qee.1	O75022	OTTHUMG00000066626	ENST00000391750.1:c.1249G>A	19.37:g.54724407C>T	ENSP00000375630:p.Val417Met		C9J1P3|C9JIP1|O15471|Q86U49	Missense_Mutation	SNP	ENST00000391750.1	37	CCDS33105.1	1066	0.4880952380952381	88	0.17886178861788618	202	0.5580110497237569	349	0.6101398601398601	427	0.5633245382585752	T	5.640	0.302776	0.10678	.	.	ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000244482;ENSG00000244482	ENST00000391750;ENST00000424807;ENST00000346401;ENST00000245620;ENST00000407860;ENST00000440558;ENST00000270464	T;T;T;T;T;T;T	0.00848	5.62;5.62;5.62;5.62;5.62;5.62;5.62	2.88	-5.77	0.02369	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	4.499180	0.01074	N	0.004874	T	0.00012	0.0000	L	0.53671	1.685	0.80722	P	0.0	B;B;B;P;P;B	0.51147	0.134;0.21;0.362;0.942;0.496;0.426	B;B;B;B;B;B	0.43680	0.063;0.058;0.177;0.427;0.081;0.086	T	0.41088	-0.9528	9	0.33940	T	0.23	.	6.447	0.21882	0.0:0.2001:0.3624:0.4374	rs1132608;rs2261471;rs58860234	417;417;417;417;417;417	B5MCX0;F8WCY4;F8W6G6;O75022-2;O75022;O75022-3	.;.;.;.;LIRB3_HUMAN;.	M	417	ENSP00000375630:V417M;ENSP00000412771:V417M;ENSP00000345184:V417M;ENSP00000245620:V417M;ENSP00000384274:V417M;ENSP00000390120:V417M;ENSP00000270464:V417M	ENSP00000270464:V417M	V	-	1	0	LILRB3;LILRA6	59416219	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-4.372000	0.00244	-2.411000	0.00571	-2.477000	0.00200	GTG		0.662	LILRB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142844.5	NM_006864		T	54724407	C	T	54724407	3	4	746	1	0	0	0	0	1	0	0	0	8794	536	19	1	681	1	LILRB3	19	54724407	Missense_Mutation	SNP	C	TCGA-KO-8405-01A-11D-2310-10	9945948	54724407	4404576	53	43756	434	2									
LILRB3	11025	mdanderson.org	37	19	54724411	54724411	+	Silent	SNP	C	C	T	rs1132607	byFrequency	TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr19:54724411C>T	ENST00000391750.1	-	7	1381	c.1245G>A	c.(1243-1245)gaG>gaA	p.E415E	LILRA6_ENST00000270464.5_Silent_p.E415E|LILRB3_ENST00000469273.1_5'UTR|LILRB3_ENST00000346401.6_Silent_p.E415E|LILRB3_ENST00000424807.1_Silent_p.E415E|LILRB3_ENST00000245620.9_Silent_p.E415E|LILRA6_ENST00000391735.3_Intron|LILRA6_ENST00000419410.2_Intron|LILRA6_ENST00000440558.2_Silent_p.E415E|LILRB3_ENST00000407860.2_Silent_p.E415E			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	415	Ig-like C2-type 4.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	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)		AGACCACGAGCTCCAGGGGCT	0.657													.|||	1334	0.266374	0.1536	0.2536	5008	,	,		6892	0.378		0.3091	False		,,,				2504	0.2689															0													21	13	17					19																	54724411		1977	2343	4320	SO:0001819	synonymous_variant	11025			U91928	CCDS33105.1, CCDS46175.1	19q13.4	2013-01-11			ENSG00000204577	ENSG00000204577		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6607	protein-coding gene	gene with protein product		604820				9278324, 9382880	Standard	NM_006864		Approved	LIR-3, HL9, ILT5, LIR3, CD85a	uc002qee.1	O75022	OTTHUMG00000066626	ENST00000391750.1:c.1245G>A	19.37:g.54724411C>T			C9J1P3|C9JIP1|O15471|Q86U49	Silent	SNP	ENST00000391750.1	37	CCDS33105.1																																																																																				0.657	LILRB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142844.5	NM_006864		T	54724411	C	T	54724411	2	4	746	1	0	0	0	0	0	0	0	1	8794	796	28	2		2	LILRB3	19	54724411	Silent	SNP	C	TCGA-KO-8405-01A-11D-2310-10	4	54724411	4404572	54	43757	434	2									
MAP1LC3A	84557	broad.mit.edu	37	20	33147203	33147203	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr20:33147203C>T	ENST00000360668.3	+	3	910	c.149C>T	c.(148-150)aCc>aTc	p.T50I	MAP1LC3A_ENST00000374837.3_Missense_Mutation_p.T54I|MAP1LC3A_ENST00000476428.1_3'UTR|MAP1LC3A_ENST00000397709.1_Missense_Mutation_p.T50I			Q9H492	MLP3A_HUMAN	microtubule-associated protein 1 light chain 3 alpha	50					autophagic vacuole assembly (GO:0000045)|mitochondrion degradation (GO:0000422)	autophagic vacuole (GO:0005776)|autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|late endosome (GO:0005770)|microtubule (GO:0005874)|organelle membrane (GO:0031090)	phosphatidylethanolamine binding (GO:0008429)|phospholipid binding (GO:0005543)			cervix(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(2)	5						CTGGACAAGACCAAGTTTTTG	0.652																																																0													44	45	44					20																	33147203		2201	4296	6497	SO:0001583	missense	84557				CCDS13237.1, CCDS13238.1	20q11.22	2014-02-12			ENSG00000101460	ENSG00000101460			6838	protein-coding gene	gene with protein product		601242				8833088, 17580304	Standard	NM_032514		Approved	MAP1BLC3, MAP1ALC3, LC3, LC3A, ATG8E	uc002xaq.2	Q9H492	OTTHUMG00000032306	ENST00000360668.3:c.149C>T	20.37:g.33147203C>T	ENSP00000353886:p.Thr50Ile		E1P5P4|E1P5P5|Q9BXW5	Missense_Mutation	SNP	ENST00000360668.3	37	CCDS13238.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.051111	0.75960	.	.	ENSG00000101460	ENST00000374837;ENST00000360668;ENST00000397709	T;T;T	0.44083	0.93;0.93;0.93	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.63768	0.2539	M	0.70595	2.14	0.80722	D	1	B;D	0.69078	0.06;0.997	B;D	0.65987	0.116;0.94	T	0.67681	-0.5608	10	0.66056	D	0.02	-1.7041	18.0581	0.89369	0.0:1.0:0.0:0.0	.	50;54	Q9H492;Q9H492-2	MLP3A_HUMAN;.	I	54;50;50	ENSP00000363970:T54I;ENSP00000353886:T50I;ENSP00000380821:T50I	ENSP00000353886:T50I	T	+	2	0	MAP1LC3A	32610864	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	6.013000	0.70776	2.357000	0.79964	0.313000	0.20887	ACC		0.652	MAP1LC3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078801.2	NM_181509		T	33147203	C	T	33147203	3	4	746	1	0	0	0	0	1	0	0	0	9232	507	18	2	215	2	MAP1LC3A	20	33147203	Missense_Mutation	SNP	C	TCGA-KO-8405-01A-11D-2310-10		33147203	29878317	55	43758											
CXorf23	256643	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	X	19983778	19983778	+	Nonsense_Mutation	SNP	T	T	A			TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chrX:19983778T>A	ENST00000379682.4	-	3	691	c.658A>T	c.(658-660)Aga>Tga	p.R220*	CXorf23_ENST00000379687.3_Nonsense_Mutation_p.R220*|CXorf23_ENST00000356980.3_Nonsense_Mutation_p.R220*			A2AJT9	CX023_HUMAN	chromosome X open reading frame 23	220						mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						TCTTTAGGTCTTTTTGATGTG	0.453																																																0													170	149	156					X																	19983778		1907	4124	6031	SO:0001587	stop_gained	256643			AL833278	CCDS14194.2	Xp22.13	2012-11-27			ENSG00000173681	ENSG00000173681			27413	protein-coding gene	gene with protein product						14702039	Standard	NM_198279		Approved		uc004czp.3	A2AJT9	OTTHUMG00000021226	ENST00000379682.4:c.658A>T	X.37:g.19983778T>A	ENSP00000369004:p.Arg220*		A1A4E8|Q5VSM7|Q5VSN1|Q6ZS60|Q8N1W7	Nonsense_Mutation	SNP	ENST00000379682.4	37		.	.	.	.	.	.	.	.	.	.	T	38	7.199527	0.98129	.	.	ENSG00000173681	ENST00000379687;ENST00000379682;ENST00000356980;ENST00000539038	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0846	0.72142	0.0:0.0:0.0:1.0	.	.	.	.	X	220;220;220;108	.	.	R	-	1	2	CXorf23	19893699	1.000000	0.71417	0.948000	0.38648	0.984000	0.73092	5.464000	0.66719	1.945000	0.56424	0.446000	0.29264	AGA		0.453	CXorf23-006	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000055991.2	NM_198279		A	19983778	T	A	19983778	4	1	746	1	0	0	0	0	0	1	0	0	4105	1617	56	5	1426	5	CXorf23	23	19983778	Nonsense_Mutation	SNP	T	TCGA-KO-8405-01A-11D-2310-10		19983778	135286782	56	43759											
RLIM	51132	mdanderson.org	37	X	73811737	73811737	+	Silent	SNP	T	T	A	rs113198776		TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chrX:73811737T>A	ENST00000332687.6	-	4	1631	c.1413A>T	c.(1411-1413)tcA>tcT	p.S471S	RLIM_ENST00000349225.2_Silent_p.S471S	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	471	Poly-Ser.|Ser-rich.				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						aactggaacttgaactggaac	0.478																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)											0													38	38	38					X																	73811737		2203	4300	6503	SO:0001819	synonymous_variant	51132			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.1413A>T	X.37:g.73811737T>A			B2RBQ1|D3DTE0|Q96D38|Q9Y598	Silent	SNP	ENST00000332687.6	37	CCDS14427.1																																																																																				0.478	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		A	73811737	T	A	73811737	2	1	746	1	0	0	0	0	0	0	0	1	13396	1799	63	5		5	RLIM	23	73811737	Silent	SNP	T	TCGA-KO-8405-01A-11D-2310-10	53827959	73811737	81458823	57	43760											
MAGEC1	9947	mdanderson.org	37	X	140994010	140994010	+	Missense_Mutation	SNP	C	C	T	rs146798989		TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chrX:140994010C>T	ENST00000285879.4	+	4	1106	c.820C>T	c.(820-822)Ccc>Tcc	p.P274S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	274				P -> R (in Ref. 1 and 2). {ECO:0000305}.						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)					TCCTGTGAGCCCCTCCTTCTC	0.483										HNSCC(15;0.026)			-|||	3	0.000794702	0.0015	0.0	3775	,	,		12386	0.0		0.0	False		,,,				2504	0.001															0													88	74	79					X																	140994010		2131	3945	6076	SO:0001583	missense	9947			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.820C>T	X.37:g.140994010C>T	ENSP00000285879:p.Pro274Ser		A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	CCDS35417.1	80	0.04822182037371911	22	0.045081967213114756	24	0.06741573033707865	15	0.026501766784452298	26	0.03430079155672823	t	0.006	-2.096041	0.00364	.	.	ENSG00000155495	ENST00000285879;ENST00000370511;ENST00000370510	T;T	0.10573	4.35;2.86	.	.	.	.	.	.	.	.	T	0.00241	0.0007	N	0.08118	0	0.09310	N	1	P	0.36222	0.544	B	0.23150	0.044	T	0.34850	-0.9812	7	0.06757	T	0.87	.	.	.	.	rs57859161	274	O60732	MAGC1_HUMAN	S	274;76;75	ENSP00000285879:P274S;ENSP00000359542:P76S	ENSP00000285879:P274S	P	+	1	0	MAGEC1	140821676	0.000000	0.05858	0.006000	0.13384	0.006000	0.05464	-4.502000	0.00224	-1.665000	0.01477	-1.695000	0.00724	CCC		0.483	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		T	140994010	C	T	140994010	3	4	746	1	0	0	0	0	1	0	0	0	9182	623	22	2	826	2	MAGEC1	23	140994010	Missense_Mutation	SNP	C	TCGA-KO-8405-01A-11D-2310-10	67182273	140994010	14276550	58	43761											
NUDC	10726	hgsc.bcm.edu	37	1	27268032	27268033	+	In_Frame_Ins	INS	-	-	GGG	rs374895246		TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr1:27268032_27268033insGGG	ENST00000321265.5	+	3	367_368	c.244_245insGGG	c.(244-246)cgg>cGGGgg	p.82_83insG		NM_006600.3	NP_006591.1	Q9Y266	NUDC_HUMAN	nudC nuclear distribution protein	82					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)				cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;6.1e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.87e-29)|Colorectal(126;5.74e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000281)|STAD - Stomach adenocarcinoma(196;0.000604)|KIRC - Kidney renal clear cell carcinoma(1967;0.000739)|READ - Rectum adenocarcinoma(331;0.0421)		GGCCGAGCGGCGGGAGAAGGCG	0.614																																																0																																										SO:0001652	inframe_insertion	10726				CCDS292.1	1p35-p34	2013-08-06	2013-08-06		ENSG00000090273	ENSG00000090273			8045	protein-coding gene	gene with protein product		610325	"nuclear distribution gene C homolog (A. nidulans)", "nuclear distribution C homolog (A. nidulans)"				Standard	NM_006600		Approved	NudC	uc001bng.2	Q9Y266	OTTHUMG00000004226	ENST00000321265.5:c.245_247dupGGG	1.37:g.27268033_27268035dupGGG	ENSP00000319664:p.Arg82_Glu83insGly		Q5QP31|Q5QP35|Q9H0N2|Q9Y2B6	In_Frame_Ins	INS	ENST00000321265.5	37	CCDS292.1																																																																																				0.614	NUDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012172.2			GGG	27268033	-	GGG	27268032	7	5	747	1	0	1	1	0	0	0	0	0	10723	759	27	0	254	0	NUDC	1	27268032	In_Frame_Ins	INS	-	TCGA-KO-8406-01A-11D-2310-10		27268032	221982589	1	43762											
TOE1	114034	broad.mit.edu	37	1	45808598	45808598	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr1:45808598A>G	ENST00000372090.5	+	7	1419	c.836A>G	c.(835-837)gAc>gGc	p.D279G	MUTYH_ENST00000372100.5_5'Flank|MUTYH_ENST00000372098.3_5'Flank|MUTYH_ENST00000488731.2_5'Flank|MUTYH_ENST00000372115.3_5'Flank|MUTYH_ENST00000528013.2_5'Flank|TOE1_ENST00000495703.1_3'UTR|MUTYH_ENST00000372110.3_5'Flank|MUTYH_ENST00000531105.1_5'Flank|MUTYH_ENST00000456914.2_5'Flank|MUTYH_ENST00000448481.1_5'Flank|MUTYH_ENST00000355498.2_5'Flank|MUTYH_ENST00000528332.2_5'Flank|MUTYH_ENST00000354383.6_5'Flank|MUTYH_ENST00000450313.1_5'Flank|MUTYH_ENST00000372104.1_5'Flank|TOE1_ENST00000539779.1_Missense_Mutation_p.D199G|MUTYH_ENST00000529984.1_5'Flank|TESK2_ENST00000486676.1_5'Flank	NM_025077.3	NP_079353.3	Q96GM8	TOE1_HUMAN	target of EGR1, member 1 (nuclear)	279						nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11	Acute lymphoblastic leukemia(166;0.155)					AGCATGAGGGACCATATTGAT	0.572																																																0													71	76	74					1																	45808598		2203	4300	6503	SO:0001583	missense	114034				CCDS521.1	1p33	2011-02-03			ENSG00000132773	ENSG00000132773			15954	protein-coding gene	gene with protein product		613931				12562764	Standard	NM_025077		Approved		uc009vxq.3	Q96GM8	OTTHUMG00000007678	ENST00000372090.5:c.836A>G	1.37:g.45808598A>G	ENSP00000361162:p.Asp279Gly		B4DEM6|Q6IA35|Q8IWN5|Q9H846	Missense_Mutation	SNP	ENST00000372090.5	37	CCDS521.1	.	.	.	.	.	.	.	.	.	.	A	7.504	0.653290	0.14580	.	.	ENSG00000132773	ENST00000372090;ENST00000539779	T;T	0.30714	1.52;1.53	5.61	2.55	0.30701	Ribonuclease H-like (1);	1.049460	0.07309	N	0.875532	T	0.17408	0.0418	N	0.04959	-0.14	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.002	T	0.29792	-1.0000	10	0.21014	T	0.42	0.2034	12.4584	0.55718	0.1157:0.508:0.3763:0.0	.	199;279	B4DEM6;Q96GM8	.;TOE1_HUMAN	G	279;199	ENSP00000361162:D279G;ENSP00000438900:D199G	ENSP00000361162:D279G	D	+	2	0	TOE1	45581185	0.000000	0.05858	0.739000	0.30968	0.953000	0.61014	-0.037000	0.12164	0.341000	0.23771	-0.168000	0.13345	GAC		0.572	TOE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020517.1	NM_025077		G	45808598	A	G	45808598	3	3	747	1	0	0	0	0	1	0	0	0	16354	275	10	3	862	3	TOE1	1	45808598	Missense_Mutation	SNP	A	TCGA-KO-8406-01A-11D-2310-10	18540566	45808598	203442023	2	43763											
XCL1	6375	broad.mit.edu	37	1	168550330	168550330	+	Missense_Mutation	SNP	C	C	A			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr1:168550330C>A	ENST00000367818.3	+	3	382	c.217C>A	c.(217-219)Caa>Aaa	p.Q73K		NM_002995.2	NP_002986.1	P47992	XCL1_HUMAN	chemokine (C motif) ligand 1	73					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)					TGCTGATCCACAAGCCACATG	0.483																																																0													196	180	185					1																	168550330		2203	4300	6503	SO:0001583	missense	6375			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.217C>A	1.37:g.168550330C>A	ENSP00000356792:p.Gln73Lys		Q52MA8	Missense_Mutation	SNP	ENST00000367818.3	37	CCDS1274.1	.	.	.	.	.	.	.	.	.	.	C	7.368	0.626277	0.14257	.	.	ENSG00000143184	ENST00000367818	T	0.03951	3.75	4.83	-9.64	0.00541	Chemokine interleukin-8-like domain (3);	1.098330	0.06925	N	0.810057	T	0.00784	0.0026	N	0.12853	0.265	0.25698	N	0.985611	B	0.17268	0.021	B	0.15052	0.012	T	0.47341	-0.9125	9	0.06099	T	0.92	0.2196	19.3302	0.94283	0.0965:0.1385:0.765:0.0	.	73	P47992	XCL1_HUMAN	K	73	ENSP00000356792:Q73K	ENSP00000356792:Q73K	Q	+	1	0	XCL1	166816954	0.000000	0.05858	0.000000	0.03702	0.723000	0.41478	-1.260000	0.02858	-1.502000	0.01814	0.655000	0.94253	CAA		0.483	XCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083612.1	NM_002995		A	168550330	C	A	168550330	3	1	747	1	0	0	0	0	1	0	0	0	17428	479	17	4	227	4	XCL1	1	168550330	Missense_Mutation	SNP	C	TCGA-KO-8406-01A-11D-2310-10	122741732	168550330	80700291	3	43764											
C1orf106	55765	mdanderson.org	37	1	200880978	200880978	+	Missense_Mutation	SNP	C	C	T	rs296520	byFrequency	TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr1:200880978C>T	ENST00000367342.4	+	9	1812	c.1612C>T	c.(1612-1614)Cgc>Tgc	p.R538C	C1orf106_ENST00000413687.2_Missense_Mutation_p.R453C	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	538			R -> C (in dbSNP:rs296520). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.							endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						GTGGGAGCTGCGCCGCGCAGC	0.736													T|||	3966	0.791933	0.6089	0.8213	5008	,	,		12017	0.997		0.7256	False		,,,				2504	0.8753															0								T	CYS/ARG,CYS/ARG	2547,1503		890,767,368	5	7	6		1357,1612	0.8	0	1	dbSNP_79	6	5587,2355		2124,1339,508	no	missense,missense	C1orf106	NM_001142569.2,NM_018265.3	180,180	3014,2106,876	TT,TC,CC		29.6525,37.1111,32.1714	benign,benign	453/579,538/664	200880978	8134,3858	2025	3971	5996	SO:0001583	missense	55765			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.1612C>T	1.37:g.200880978C>T	ENSP00000356311:p.Arg538Cys		B4E1K9|E9PFY0|Q9NV65|Q9NVI0	Missense_Mutation	SNP	ENST00000367342.4	37		1677	0.7678571428571429	261	0.5304878048780488	285	0.787292817679558	569	0.9947552447552448	562	0.741424802110818	T	0.366	-0.936884	0.02340	0.628889	0.703475	ENSG00000163362	ENST00000367342;ENST00000413687	T;T	0.28454	1.61;1.61	3.39	0.759	0.18438	.	0.912041	0.09365	N	0.812206	T	0.00012	0.0000	N	0.01576	-0.805	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.16188	-1.0411	9	0.29301	T	0.29	-23.0614	3.796	0.08740	0.0:0.2241:0.1856:0.5903	rs296520;rs7519373;rs56757010	538	Q3KP66	CA106_HUMAN	C	538;453	ENSP00000356311:R538C;ENSP00000392105:R453C	ENSP00000356311:R538C	R	+	1	0	C1orf106	199147601	0.004000	0.15560	0.002000	0.10522	0.007000	0.05969	-0.731000	0.04909	-0.124000	0.11724	-0.381000	0.06696	CGC		0.736	C1orf106-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000087057.2	NM_018265		T	200880978	C	T	200880978	3	4	747	1	0	0	0	0	1	0	0	0	1982	768	27	1	1646	1	C1orf106	1	200880978	Missense_Mutation	SNP	C	TCGA-KO-8406-01A-11D-2310-10	32330648	200880978	48369643	4	43765											
CD55	1604	bcgsc.ca	37	1	207510059	207510059	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr1:207510059T>C	ENST00000367064.3	+	7	1133	c.875T>C	c.(874-876)gTc>gCc	p.V292A	CD55_ENST00000391920.4_Missense_Mutation_p.V292A|CD55_ENST00000367063.2_Missense_Mutation_p.V292A|CD55_ENST00000465534.1_3'UTR|CD55_ENST00000314754.8_Missense_Mutation_p.V292A|CD55_ENST00000367065.5_Missense_Mutation_p.V292A|CD55_ENST00000391921.4_Missense_Mutation_p.V228A|CD55_ENST00000367062.4_Missense_Mutation_p.V292A|CD55_ENST00000367067.4_3'UTR	NM_000574.3	NP_000565.1	P08174	DAF_HUMAN	CD55 molecule, decay accelerating factor for complement (Cromer blood group)	292	Ser/Thr-rich.				CD4-positive, alpha-beta T cell cytokine production (GO:0035743)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|maternal process involved in parturition (GO:0060137)|negative regulation of complement activation (GO:0045916)|positive regulation of CD4-positive, alpha-beta T cell activation (GO:2000516)|positive regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000563)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of complement activation (GO:0030449)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|respiratory burst (GO:0045730)|response to peptide hormone (GO:0043434)|response to virus (GO:0009615)|spermatogenesis (GO:0007283)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	enzyme inhibitor activity (GO:0004857)|lipid binding (GO:0008289)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16					Chloramphenicol(DB00446)	ACTTCCAAGGTCCCACCAACA	0.408																																																0													164	157	159					1																	207510059		2203	4300	6503	SO:0001583	missense	1604			BC001288	CCDS31006.1, CCDS44307.1, CCDS73022.1	1q32	2014-09-17	2006-03-28	2006-02-23	ENSG00000196352	ENSG00000196352		"CD molecules", "Blood group antigens"	2665	protein-coding gene	gene with protein product		125240	"decay accelerating factor for complement (CD55, Cromer blood group system)"	DAF			Standard	XM_005273077		Approved	CR, TC, CROM	uc001hfr.4	P08174	OTTHUMG00000036255	ENST00000367064.3:c.875T>C	1.37:g.207510059T>C	ENSP00000356031:p.Val292Ala		B1AP14|D3DT83|D3DT84|E7ER69|P09679|P78361|Q14UF2|Q14UF3|Q14UF4|Q14UF5|Q14UF6	Missense_Mutation	SNP	ENST00000367064.3	37	CCDS31006.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	1.626|1.626	-0.520334|-0.520334	0.04171|0.04171	.|.	.|.	ENSG00000196352|ENSG00000196352	ENST00000343420|ENST00000367064;ENST00000367063;ENST00000391921;ENST00000536840;ENST00000314754;ENST00000367065;ENST00000391920;ENST00000367062	.|T;T;T;T;T;T;T	.|0.36157	.|1.32;1.52;1.71;1.44;1.41;1.27;1.3	4.39|4.39	-2.22|-2.22	0.06952|0.06952	.|.	.|2.417300	.|0.01718	.|N	.|0.028155	T|T	0.21674|0.21674	0.0522|0.0522	N|N	0.02296|0.02296	-0.605|-0.605	0.09310|0.09310	N|N	0.999995|0.999995	.|B;P;B;B;B;B	.|0.40970	.|0.005;0.734;0.0;0.001;0.0;0.001	.|B;P;B;B;B;B	.|0.51550	.|0.003;0.673;0.001;0.006;0.001;0.003	T|T	0.17440|0.17440	-1.0369|-1.0369	5|10	.|0.08599	.|T	.|0.76	.|.	4.9011|4.9011	0.13775|0.13775	0.0:0.3138:0.1619:0.5243|0.0:0.3138:0.1619:0.5243	.|.	.|292;228;292;292;292;292	.|Q14UF6;B1AP15;Q14UF4;P08174-2;P08174;B1AP13	.|.;.;.;.;DAF_HUMAN;.	P|A	302|292;292;228;228;292;292;292;292	.|ENSP00000356031:V292A;ENSP00000356030:V292A;ENSP00000375788:V228A;ENSP00000316333:V292A;ENSP00000356032:V292A;ENSP00000375787:V292A;ENSP00000356029:V292A	.|ENSP00000316333:V292A	S|V	+|+	1|2	0|0	CD55|CD55	205576682|205576682	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.015000|0.015000	0.08874|0.08874	-3.047000|-3.047000	0.00630|0.00630	-0.436000|-0.436000	0.07254|0.07254	-0.381000|-0.381000	0.06696|0.06696	TCC|GTC		0.408	CD55-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088208.2	NM_000574		C	207510059	T	C	207510059	3	2	747	1	0	0	0	0	1	0	0	0	3026	1667	58	3	901	3	CD55	1	207510059	Missense_Mutation	SNP	T	TCGA-KO-8406-01A-11D-2310-10	6629081	207510059	41740562	5	43766											
MTHFD2	10797	hgsc.bcm.edu;bcgsc.ca	37	2	74438938	74438938	+	Missense_Mutation	SNP	A	A	T			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr2:74438938A>T	ENST00000394053.2	+	7	914	c.834A>T	c.(832-834)agA>agT	p.R278S	MTHFD2_ENST00000409804.1_Missense_Mutation_p.R150S|MTHFD2_ENST00000264090.4_Missense_Mutation_p.R176S|MTHFD2_ENST00000409601.1_Intron|MTHFD2_ENST00000394050.3_Missense_Mutation_p.R114S|RP11-287D1.3_ENST00000451608.2_3'UTR	NM_006636.3	NP_006627.2	P13995	MTDC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase	278					folic acid-containing compound biosynthetic process (GO:0009396)|one-carbon metabolic process (GO:0006730)|tetrahydrofolate metabolic process (GO:0046653)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	magnesium ion binding (GO:0000287)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NAD+) activity (GO:0004487)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|phosphate ion binding (GO:0042301)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6					Tetrahydrofolic acid(DB00116)	GAATAAATAGAGTTCACGATC	0.353																																																0													81	76	78					2																	74438938		1889	4102	5991	SO:0001583	missense	10797			X16396	CCDS1935.2	2p13.1	2008-05-02			ENSG00000065911	ENSG00000065911			7434	protein-coding gene	gene with protein product		604887				2587219, 8218174	Standard	NR_027405		Approved		uc002skk.3	P13995	OTTHUMG00000129814	ENST00000394053.2:c.834A>T	2.37:g.74438938A>T	ENSP00000377617:p.Arg278Ser		Q53G90|Q53GV5|Q53S36|Q7Z650	Missense_Mutation	SNP	ENST00000394053.2	37	CCDS1935.2	.	.	.	.	.	.	.	.	.	.	A	18.03	3.531909	0.64972	.	.	ENSG00000065911	ENST00000394053;ENST00000409804;ENST00000264090;ENST00000394050	T;T;T;T	0.60040	0.22;0.22;0.22;0.22	5.54	4.41	0.53225	Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.69557	0.3124	M	0.78285	2.405	0.58432	D	0.999996	D	0.76494	0.999	D	0.70716	0.97	T	0.72663	-0.4225	10	0.72032	D	0.01	.	3.472	0.07570	0.6287:0.2366:0.1347:0.0	.	278	P13995	MTDC_HUMAN	S	278;150;176;114	ENSP00000377617:R278S;ENSP00000386536:R150S;ENSP00000264090:R176S;ENSP00000377614:R114S	ENSP00000264090:R176S	R	+	3	2	MTHFD2	74292446	0.990000	0.36364	0.988000	0.46212	0.819000	0.46315	0.550000	0.23345	2.096000	0.63516	0.529000	0.55759	AGA		0.353	MTHFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252045.2			T	74438938	A	T	74438938	3	4	747	1	0	0	0	0	1	0	0	0	9931	301	11	5	860	5	MTHFD2	2	74438938	Missense_Mutation	SNP	A	TCGA-KO-8406-01A-11D-2310-10		74438938	168760435	6	43767											
ATF2	1386	ucsc.edu	37	2	175986170	175986170	+	Splice_Site	SNP	A	A	C			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr2:175986170A>C	ENST00000264110.2	-	5	498		c.e5+1		ATF2_ENST00000392544.1_Splice_Site|ATF2_ENST00000345739.5_Intron|ATF2_ENST00000426833.3_Splice_Site|ATF2_ENST00000538946.1_Splice_Site|ATF2_ENST00000409635.1_Intron|ATF2_ENST00000392543.2_Intron|ATF2_ENST00000409499.1_Intron|ATF2_ENST00000409833.1_Splice_Site|ATF2_ENST00000409437.1_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	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)	GCATATACTAACCAGCCACAA	0.353																																					Pancreas(17;87 705 4534 15538 30988)											0													84	81	82					2																	175986170		2203	4299	6502	SO:0001630	splice_region_variant	1386			X15875	CCDS2262.1, CCDS58737.1, CCDS58738.1, CCDS58739.1	2q32	2013-01-10			ENSG00000115966	ENSG00000115966		"basic leucine zipper proteins"	784	protein-coding gene	gene with protein product		123811	"cAMP responsive element binding protein 2"	CREB2		1833307, 1838349	Standard	NM_001880		Approved	TREB7, CRE-BP1, HB16	uc002ujl.4	P15336	OTTHUMG00000132424	ENST00000264110.2:c.199+1T>G	2.37:g.175986170A>C			A1L3Z2|A4D7U4|A4D7U5|A4D7V1|D3DPE9|G8JLM5|Q13000|Q3B7B7|Q4ZFU9|Q53RY2|Q8TAR1|Q96JT8	Splice_Site	SNP	ENST00000264110.2	37	CCDS2262.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.262883	0.80358	.	.	ENSG00000115966	ENST00000264110;ENST00000409437;ENST00000435004;ENST00000392544;ENST00000426833;ENST00000538946;ENST00000487334;ENST00000409833	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5615	0.76253	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATF2	175694416	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.320000	0.96346	2.073000	0.62155	0.482000	0.46254	.		0.353	ATF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255562.1	NM_001880	Intron	C	175986170	A	C	175986170	5	2	747	1	0	0	0	0	0	0	1	0	1080	57	2	5	1356	5	ATF2	2	175986170	Splice_Site	SNP	A	TCGA-KO-8406-01A-11D-2310-10	101547232	175986170	67213203	7	43768											
COL6A3	1293	mdanderson.org;bcgsc.ca	37	2	238269781	238269781	+	Missense_Mutation	SNP	C	C	T	rs397515332		TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr2:238269781C>T	ENST00000295550.4	-	16	6645	c.6193G>A	c.(6193-6195)Ggt>Agt	p.G2065S	COL6A3_ENST00000472056.1_Missense_Mutation_p.G1458S|COL6A3_ENST00000347401.3_Missense_Mutation_p.G1864S|COL6A3_ENST00000409809.1_Missense_Mutation_p.G1859S|COL6A3_ENST00000346358.4_Missense_Mutation_p.G1865S|COL6A3_ENST00000353578.4_Missense_Mutation_p.G1859S	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2065	Collagen-like 1.|Triple-helical 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)		CCCTCATCACCAGGATAGCCT	0.448																																																0													88	87	87					2																	238269781		2203	4300	6503	SO:0001583	missense	1293			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.6193G>A	2.37:g.238269781C>T	ENSP00000295550:p.Gly2065Ser		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.457244	0.43634	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.99527	-5.12;-6.09;-6.09;-6.09;-6.09;-6.09	5.22	5.22	0.72569	.	0.000000	0.52532	D	0.000069	D	0.99718	0.9891	H	0.96015	3.755	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	0.97373	0.9977	10	0.66056	D	0.02	.	18.8129	0.92065	0.0:1.0:0.0:0.0	.	1458;1859;2065	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	S	2065;1864;1859;1458;1859;1865	ENSP00000295550:G2065S;ENSP00000315609:G1864S;ENSP00000315873:G1859S;ENSP00000418285:G1458S;ENSP00000386844:G1859S;ENSP00000295546:G1865S	ENSP00000295550:G2065S	G	-	1	0	COL6A3	237934520	1.000000	0.71417	0.389000	0.26208	0.491000	0.33493	7.291000	0.78721	2.437000	0.82529	0.655000	0.94253	GGT		0.448	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		T	238269781	C	T	238269781	3	4	747	1	0	0	0	0	1	0	0	0	3703	594	21	2	3456	2	COL6A3	2	238269781	Missense_Mutation	SNP	C	TCGA-KO-8406-01A-11D-2310-10	62283611	238269781	4929592	8	43769											
KIAA2018	205717	broad.mit.edu;mdanderson.org;bcgsc.ca	37	3	113375013	113375013	+	Missense_Mutation	SNP	A	A	T			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr3:113375013A>T	ENST00000478658.1	-	5	5533	c.5516T>A	c.(5515-5517)cTc>cAc	p.L1839H	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Missense_Mutation_p.L1839H			Q68DE3	K2018_HUMAN	KIAA2018	1839						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						ATGTTCTGAGAGTGACCTCTG	0.443																																																0													97	95	96					3																	113375013		1979	4175	6154	SO:0001583	missense	205717			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.5516T>A	3.37:g.113375013A>T	ENSP00000420721:p.Leu1839His		Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	ENST00000478658.1	37	CCDS43133.1	.	.	.	.	.	.	.	.	.	.	A	17.16	3.318679	0.60524	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.19532	2.14;2.14	5.91	5.91	0.95273	.	0.222346	0.31922	N	0.006858	T	0.27900	0.0687	N	0.14661	0.345	0.38952	D	0.958378	D	0.71674	0.998	P	0.60173	0.87	T	0.20974	-1.0259	10	0.87932	D	0	-8.4007	16.3453	0.83126	1.0:0.0:0.0:0.0	.	1839	Q68DE3	K2018_HUMAN	H	1839	ENSP00000320794:L1839H;ENSP00000420721:L1839H	ENSP00000320794:L1839H	L	-	2	0	KIAA2018	114857703	.	.	1.000000	0.80357	0.996000	0.88848	.	.	2.261000	0.74972	0.533000	0.62120	CTC		0.443	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		T	113375013	A	T	113375013	3	4	747	1	0	0	0	0	1	0	0	0	8270	304	11	5	1225	5	KIAA2018	3	113375013	Missense_Mutation	SNP	A	TCGA-KO-8406-01A-11D-2310-10		113375013	84647417	9	43770											
CCDC37	348807	broad.mit.edu	37	3	126142182	126142183	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr3:126142182_126142183insC	ENST00000352312.1	+	12	1196_1197	c.1097_1098insC	c.(1096-1101)atccccfs	p.IP366fs	CCDC37_ENST00000505024.1_Frame_Shift_Ins_p.IP367fs|CCDC37_ENST00000393425.1_Frame_Shift_Ins_p.IP367fs	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	366								p.T369fs*36(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		AACTCTCCCATCCCCCCCACGC	0.653																																																1	Deletion - Frameshift(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	348807			AK097402	CCDS3037.1	3q21.2	2014-07-31			ENSG00000163885	ENSG00000163885			26842	protein-coding gene	gene with protein product						23569216	Standard	NM_182628		Approved	FLJ40083, MIA1	uc003eiu.1	Q494V2	OTTHUMG00000162691	ENST00000352312.1:c.1104dupC	3.37:g.126142189_126142189dupC	ENSP00000344749:p.Ile366fs		D3DNA8|Q494V1|Q494V4|Q8N838	Frame_Shift_Ins	INS	ENST00000352312.1	37	CCDS3037.1																																																																																				0.653	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000370099.4	NM_182628		C	126142183	-	C	126142182	7	5	747	1	0	1	1	0	0	0	0	0	2811	1435	50	0	1139	0	CCDC37	3	126142182	Frame_Shift_Ins	INS	-	TCGA-KO-8406-01A-11D-2310-10	12767169	126142182	71880248	10	43771											
GFM1	85476	broad.mit.edu	37	3	158362472	158362473	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr3:158362472_158362473insC	ENST00000486715.1	+	1	406_407	c.49_50insC	c.(49-51)gccfs	p.A17fs	GFM1_ENST00000264263.5_Frame_Shift_Ins_p.A17fs|GFM1_ENST00000478576.1_Frame_Shift_Ins_p.A17fs	NM_024996.5	NP_079272.4			G elongation factor, mitochondrial 1											breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			GCGCGGAAGGGCCCCCGCCTCC	0.649											OREG0015898	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0																																										SO:0001589	frameshift_variant	85476			AF309777	CCDS33885.1	3q25	2008-02-05			ENSG00000168827	ENSG00000168827			13780	protein-coding gene	gene with protein product		606639	"G translation elongation factor, mitochondrial"			11374907, 11735030	Standard	NM_024996		Approved	EFGM, GFM, EGF1	uc003fce.3	Q96RP9	OTTHUMG00000158804	ENST00000486715.1:c.54dupC	3.37:g.158362477_158362477dupC	ENSP00000419038:p.Ala17fs	1793		Frame_Shift_Ins	INS	ENST00000486715.1	37	CCDS33885.1																																																																																				0.649	GFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352271.1	NM_024996		C	158362473	-	C	158362472	7	5	747	1	0	1	1	0	0	0	0	0	6343	1203	42	0	51	0	GFM1	3	158362472	Frame_Shift_Ins	INS	-	TCGA-KO-8406-01A-11D-2310-10	32220290	158362472	39659958	11	43772											
PPP1R2	5504	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	3	195256683	195256683	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr3:195256683C>T	ENST00000328432.3	-	2	502	c.142G>A	c.(142-144)Gat>Aat	p.D48N		NM_006241.4	NP_006232.1	P41236	IPP2_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 2	48	Required for binding PPP1CC. {ECO:0000250}.				generation of precursor metabolites and energy (GO:0006091)|glycogen metabolic process (GO:0005977)|negative regulation of catalytic activity (GO:0043086)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of signal transduction (GO:0009966)		protein serine/threonine phosphatase inhibitor activity (GO:0004865)			endometrium(2)|kidney(1)|large_intestine(1)|urinary_tract(2)	6	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)		Epithelial(36;2.64e-22)|all cancers(36;2.69e-20)|OV - Ovarian serous cystadenocarcinoma(49;3.52e-19)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;9.55e-05)		TTCATTTCATCCCACTTCTGG	0.333																																																0													99	88	92					3																	195256683		2203	4300	6503	SO:0001583	missense	5504			U68111	CCDS3309.1	3q29	2012-04-17			ENSG00000184203	ENSG00000184203	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9288	protein-coding gene	gene with protein product		601792				9126490, 8119416	Standard	XM_006713682		Approved	IPP2	uc003fup.3	P41236	OTTHUMG00000155887	ENST00000328432.3:c.142G>A	3.37:g.195256683C>T	ENSP00000328178:p.Asp48Asn			Missense_Mutation	SNP	ENST00000328432.3	37	CCDS3309.1	.	.	.	.	.	.	.	.	.	.	C	33	5.269708	0.95429	.	.	ENSG00000184203	ENST00000328432;ENST00000438848	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.83644	0.5299	M	0.86097	2.795	0.80722	D	1	D;D	0.76494	0.988;0.999	P;D	0.69654	0.836;0.965	D	0.84595	0.0669	9	0.59425	D	0.04	.	18.1336	0.89610	0.0:1.0:0.0:0.0	.	48;48	E7EMN6;P41236	.;IPP2_HUMAN	N	48	.	ENSP00000328178:D48N	D	-	1	0	PPP1R2	196737972	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.183000	0.77697	2.880000	0.98712	0.650000	0.86243	GAT		0.333	PPP1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342133.1	NM_006241		T	195256683	C	T	195256683	3	4	747	1	0	0	0	0	1	0	0	0	12375	855	30	2	495	2	PPP1R2	3	195256683	Missense_Mutation	SNP	C	TCGA-KO-8406-01A-11D-2310-10	36894211	195256683	2765747	12	43773											
ZNF732	654254	mdanderson.org	37	4	289864	289864	+	Silent	SNP	C	C	T			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr4:289864C>T	ENST00000419098.1	-	2	94	c.84G>A	c.(82-84)ttG>ttA	p.L28L		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	28	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)|lung(2)	3						CATCTCTATACAAATTCTGCT	0.408																																																0													32	32	32					4																	289864		692	1591	2283	SO:0001819	synonymous_variant	654254			AK302099	CCDS46990.1	4p16.3	2014-02-12	2009-07-22		ENSG00000186777	ENSG00000186777		"Zinc fingers, C2H2-type", "-"	37138	protein-coding gene	gene with protein product							Standard	NM_001137608		Approved	FLJ59067	uc011buu.1	B4DXR9	OTTHUMG00000159883	ENST00000419098.1:c.84G>A	4.37:g.289864C>T				Silent	SNP	ENST00000419098.1	37	CCDS46990.1																																																																																				0.408	ZNF732-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000357937.2	NM_001137608		T	289864	C	T	289864	2	4	747	1	0	0	0	0	0	0	0	1	18128	477	17	2		2	ZNF732	4	289864	Silent	SNP	C	TCGA-KO-8406-01A-11D-2310-10		289864	190864412	13	43774			1	108		5	3	65	N	G_C	1.214961e-08
ZNF732	654254	mdanderson.org	37	4	289878	289878	+	Missense_Mutation	SNP	C	C	A			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr4:289878C>A	ENST00000419098.1	-	2	80	c.70G>T	c.(70-72)Gcc>Tcc	p.A24S		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	24	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)|lung(2)	3						TTCTGCTGGGCAGGGTCCAGG	0.418																																																0													33	32	32					4																	289878		692	1590	2282	SO:0001583	missense	654254			AK302099	CCDS46990.1	4p16.3	2014-02-12	2009-07-22		ENSG00000186777	ENSG00000186777		"Zinc fingers, C2H2-type", "-"	37138	protein-coding gene	gene with protein product							Standard	NM_001137608		Approved	FLJ59067	uc011buu.1	B4DXR9	OTTHUMG00000159883	ENST00000419098.1:c.70G>T	4.37:g.289878C>A	ENSP00000415774:p.Ala24Ser			Missense_Mutation	SNP	ENST00000419098.1	37	CCDS46990.1	.	.	.	.	.	.	.	.	.	.	C	3.894	-0.023332	0.07634	.	.	ENSG00000186777	ENST00000419098	T	0.02258	4.37	1.22	-2.43	0.06522	Krueppel-associated box (4);	.	.	.	.	T	0.03263	0.0095	M	0.65677	2.01	0.09310	N	1	B	0.32350	0.366	B	0.37692	0.256	T	0.36939	-0.9727	9	0.42905	T	0.14	.	2.9027	0.05711	0.0:0.4666:0.2847:0.2487	.	24	B4DXR9	ZN732_HUMAN	S	24	ENSP00000415774:A24S	ENSP00000415774:A24S	A	-	1	0	ZNF732	279878	0.000000	0.05858	0.085000	0.20634	0.087000	0.18053	-1.157000	0.03157	-0.694000	0.05113	-0.680000	0.03767	GCC		0.418	ZNF732-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000357937.2	NM_001137608		A	289878	C	A	289878	3	1	747	1	0	0	0	0	1	0	0	0	18128	710	25	4	1699	4	ZNF732	4	289878	Missense_Mutation	SNP	C	TCGA-KO-8406-01A-11D-2310-10	14	289878	190864398	14	43775	435	3	1	108		5	3	65	N	G_C	1.214961e-08
ZNF732	654254	mdanderson.org	37	4	289881	289881	+	Missense_Mutation	SNP	G	G	T			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr4:289881G>T	ENST00000419098.1	-	2	77	c.67C>A	c.(67-69)Cct>Act	p.P23T		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	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)			endometrium(1)|lung(2)	3						TGCTGGGCAGGGTCCAGGCAT	0.413																																																0													35	33	34					4																	289881		692	1590	2282	SO:0001583	missense	654254			AK302099	CCDS46990.1	4p16.3	2014-02-12	2009-07-22		ENSG00000186777	ENSG00000186777		"Zinc fingers, C2H2-type", "-"	37138	protein-coding gene	gene with protein product							Standard	NM_001137608		Approved	FLJ59067	uc011buu.1	B4DXR9	OTTHUMG00000159883	ENST00000419098.1:c.67C>A	4.37:g.289881G>T	ENSP00000415774:p.Pro23Thr			Missense_Mutation	SNP	ENST00000419098.1	37	CCDS46990.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.337467	0.00224	.	.	ENSG00000186777	ENST00000419098	T	0.02472	4.28	1.22	1.22	0.21188	Krueppel-associated box (4);	.	.	.	.	T	0.02888	0.0086	L	0.56340	1.77	0.09310	N	1	B	0.09022	0.002	B	0.12837	0.008	T	0.49771	-0.8904	9	0.08599	T	0.76	.	5.3307	0.15930	0.0:0.0:1.0:0.0	.	23	B4DXR9	ZN732_HUMAN	T	23	ENSP00000415774:P23T	ENSP00000415774:P23T	P	-	1	0	ZNF732	279881	0.000000	0.05858	0.122000	0.21767	0.125000	0.20455	-0.620000	0.05565	0.300000	0.22699	0.305000	0.20034	CCT		0.413	ZNF732-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000357937.2	NM_001137608		T	289881	G	T	289881	3	4	747	1	0	0	0	0	1	0	0	0	18128	1232	43	4	1702	4	ZNF732	4	289881	Missense_Mutation	SNP	G	TCGA-KO-8406-01A-11D-2310-10	3	289881	190864395	15	43776	435	3	1	108		5	3	65	N	G_C	1.214961e-08
ZNF732	654254	mdanderson.org	37	4	289888	289888	+	Silent	SNP	G	G	A			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr4:289888G>A	ENST00000419098.1	-	2	70	c.60C>T	c.(58-60)tgC>tgT	p.C20C		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	20	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)|lung(2)	3						CAGGGTCCAGGCATTTCCACT	0.403																																																0													35	33	34					4																	289888		692	1590	2282	SO:0001819	synonymous_variant	654254			AK302099	CCDS46990.1	4p16.3	2014-02-12	2009-07-22		ENSG00000186777	ENSG00000186777		"Zinc fingers, C2H2-type", "-"	37138	protein-coding gene	gene with protein product							Standard	NM_001137608		Approved	FLJ59067	uc011buu.1	B4DXR9	OTTHUMG00000159883	ENST00000419098.1:c.60C>T	4.37:g.289888G>A				Silent	SNP	ENST00000419098.1	37	CCDS46990.1																																																																																				0.403	ZNF732-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000357937.2	NM_001137608		A	289888	G	A	289888	2	1	747	1	0	0	0	0	0	0	0	1	18128	1195	42	2		2	ZNF732	4	289888	Silent	SNP	G	TCGA-KO-8406-01A-11D-2310-10	7	289888	190864388	16	43777	435	3	1	108		5	3	65	N	G_C	1.214961e-08
ZNF732	654254	mdanderson.org	37	4	289928	289928	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr4:289928C>T	ENST00000419098.1	-	2	30	c.20G>A	c.(19-21)aGg>aAg	p.R7K		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	7	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)|lung(2)	3						GGCCACATCCCTGAATGTTAA	0.403																																																0													30	27	28					4																	289928		692	1591	2283	SO:0001583	missense	654254			AK302099	CCDS46990.1	4p16.3	2014-02-12	2009-07-22		ENSG00000186777	ENSG00000186777		"Zinc fingers, C2H2-type", "-"	37138	protein-coding gene	gene with protein product							Standard	NM_001137608		Approved	FLJ59067	uc011buu.1	B4DXR9	OTTHUMG00000159883	ENST00000419098.1:c.20G>A	4.37:g.289928C>T	ENSP00000415774:p.Arg7Lys			Missense_Mutation	SNP	ENST00000419098.1	37	CCDS46990.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.600030	0.46318	.	.	ENSG00000186777	ENST00000419098	T	0.01369	4.97	1.22	0.0332	0.14179	Krueppel-associated box (4);	.	.	.	.	T	0.00998	0.0033	N	0.17723	0.515	0.09310	N	1	P	0.34615	0.459	B	0.35114	0.196	T	0.49021	-0.8982	9	0.19590	T	0.45	.	3.811	0.08796	0.0:0.6812:0.0:0.3188	.	7	B4DXR9	ZN732_HUMAN	K	7	ENSP00000415774:R7K	ENSP00000415774:R7K	R	-	2	0	ZNF732	279928	0.652000	0.27349	0.849000	0.33467	0.849000	0.48306	-1.168000	0.03123	0.300000	0.22699	0.305000	0.20034	AGG		0.403	ZNF732-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000357937.2	NM_001137608		T	289928	C	T	289928	3	4	747	1	0	0	0	0	1	0	0	0	18128	681	24	2	1749	2	ZNF732	4	289928	Missense_Mutation	SNP	C	TCGA-KO-8406-01A-11D-2310-10	40	289928	190864348	17	43778			1	108		5	3	65	N	G_C	1.214961e-08
HNRPDL	9987	broad.mit.edu	37	4	83350758	83350759	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr4:83350758_83350759insC	ENST00000295470.5	-	1	260_261	c.85_86insG	c.(85-87)catfs	p.H29fs	HNRNPDL_ENST00000602300.1_5'Flank|HNRNPDL_ENST00000514511.1_5'Flank|HNRNPDL_ENST00000349655.4_5'Flank|HNRNPDL_ENST00000502762.1_Frame_Shift_Ins_p.H29fs|ENOPH1_ENST00000509635.1_5'Flank|ENOPH1_ENST00000273920.3_5'Flank	NM_001207000.1|NM_031372.3	NP_001193929.1|NP_112740.1	O14979	HNRDL_HUMAN	heterogeneous nuclear ribonucleoprotein D-like	29					regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|single-stranded DNA binding (GO:0003697)										cggccgccAATGGGAGAGGCTG	0.757																																																0																																										SO:0001589	frameshift_variant	9987			D89092	CCDS3593.1, CCDS75153.1	4q21.22	2013-06-12		2013-06-12	ENSG00000152795	ENSG00000152795		"RNA binding motif (RRM) containing"	5037	protein-coding gene	gene with protein product		607137		HNRPDL		10072754, 9524220	Standard	NM_001207000		Approved	JKTBP, laAUF1	uc003hmr.3	O14979	OTTHUMG00000130299	ENST00000295470.5:c.85_86insG	4.37:g.83350758_83350759insC	ENSP00000295470:p.His29fs		Q6SPF2|Q7KZ74|Q7KZ75|Q96IM0|Q96S43	Frame_Shift_Ins	INS	ENST00000295470.5	37	CCDS3593.1																																																																																				0.757	HNRNPDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252644.1	NM_005463		C	83350759	-	C	83350758	7	5	747	1	0	1	1	0	0	0	0	0	7278	1464	51	0	1204	0	HNRPDL	4	83350758	Frame_Shift_Ins	INS	-	TCGA-KO-8406-01A-11D-2310-10	83060830	83350758	107803518	18	43779	436	2									
HNRPDL	9987	broad.mit.edu	37	4	83350764	83350764	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr4:83350764delA	ENST00000295470.5	-	1	255	c.80delT	c.(79-81)ctcfs	p.L27fs	HNRNPDL_ENST00000602300.1_5'Flank|HNRNPDL_ENST00000514511.1_5'Flank|HNRNPDL_ENST00000349655.4_5'Flank|HNRNPDL_ENST00000502762.1_Frame_Shift_Del_p.L27fs|ENOPH1_ENST00000509635.1_5'Flank|ENOPH1_ENST00000273920.3_5'Flank	NM_001207000.1|NM_031372.3	NP_001193929.1|NP_112740.1	O14979	HNRDL_HUMAN	heterogeneous nuclear ribonucleoprotein D-like	27					regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|single-stranded DNA binding (GO:0003697)										ccAATGGGAGAGGCTGCGGGA	0.756																																																0													4	7	6					4																	83350764		1544	3554	5098	SO:0001589	frameshift_variant	9987			D89092	CCDS3593.1, CCDS75153.1	4q21.22	2013-06-12		2013-06-12	ENSG00000152795	ENSG00000152795		"RNA binding motif (RRM) containing"	5037	protein-coding gene	gene with protein product		607137		HNRPDL		10072754, 9524220	Standard	NM_001207000		Approved	JKTBP, laAUF1	uc003hmr.3	O14979	OTTHUMG00000130299	ENST00000295470.5:c.80delT	4.37:g.83350764delA	ENSP00000295470:p.Leu27fs		Q6SPF2|Q7KZ74|Q7KZ75|Q96IM0|Q96S43	Frame_Shift_Del	DEL	ENST00000295470.5	37	CCDS3593.1																																																																																				0.756	HNRNPDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252644.1	NM_005463		-	83350764	A	-	83350764	7	5	747	1	0	1	0	1	0	0	0	0	7278	304	11	0	1210	0	HNRPDL	4	83350764	Frame_Shift_Del	DEL	A	TCGA-KO-8406-01A-11D-2310-10	6	83350764	107803512	19	43780	436	2									
NAA15	80155	mdanderson.org	37	4	140272727	140272727	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr4:140272727T>C	ENST00000296543.5	+	9	1299	c.976T>C	c.(976-978)Ttc>Ctc	p.F326L	NAA15_ENST00000398947.1_Missense_Mutation_p.F326L|NAA15_ENST00000480277.2_3'UTR	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	326					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						CCCACCAGTCTTCAATACTTT	0.328																																																0													103	102	102					4																	140272727		1811	4082	5893	SO:0001583	missense	80155			AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"N(alpha)-acetyltransferase subunits"	30782	protein-coding gene	gene with protein product		608000	"NMDA receptor regulated 1"	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.976T>C	4.37:g.140272727T>C	ENSP00000296543:p.Phe326Leu		D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Missense_Mutation	SNP	ENST00000296543.5	37	CCDS43270.1	.	.	.	.	.	.	.	.	.	.	T	35	5.482153	0.96307	.	.	ENSG00000164134	ENST00000296543;ENST00000544077;ENST00000398947	T;T	0.58358	0.34;0.34	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.80132	0.4567	M	0.93939	3.475	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.85343	0.1097	10	0.72032	D	0.01	-9.7091	16.3786	0.83431	0.0:0.0:0.0:1.0	.	326	Q9BXJ9	NAA15_HUMAN	L	326;200;326	ENSP00000296543:F326L;ENSP00000381920:F326L	ENSP00000296543:F326L	F	+	1	0	NAA15	140492177	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.606000	0.82863	2.269000	0.75478	0.454000	0.30748	TTC		0.328	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000267839.2	NM_057175		C	140272727	T	C	140272727	3	2	747	1	0	0	0	0	1	0	0	0	10120	1609	56	3	1010	3	NAA15	4	140272727	Missense_Mutation	SNP	T	TCGA-KO-8406-01A-11D-2310-10	56921963	140272727	50881549	20	43781											
HAPLN1	1404	broad.mit.edu	37	5	82940353	82940354	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr5:82940353_82940354insC	ENST00000274341.4	-	4	1453_1454	c.603_604insG	c.(601-606)gggctgfs	p.L202fs		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	202	Link 1. {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)	CACCAGTCCAGCCCGCCCCGCC	0.619																																																0																																										SO:0001589	frameshift_variant	1404				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.604dupG	5.37:g.82940356_82940356dupC	ENSP00000274341:p.Leu202fs		B2R9A9	Frame_Shift_Ins	INS	ENST00000274341.4	37	CCDS4061.1																																																																																				0.619	HAPLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239256.2	NM_001884		C	82940354	-	C	82940353	7	5	747	1	0	1	1	0	0	0	0	0	6956	962	34	0	468	0	HAPLN1	5	82940353	Frame_Shift_Ins	INS	-	TCGA-KO-8406-01A-11D-2310-10		82940353	97974907	21	43782											
LECT2	3950	broad.mit.edu	37	5	135283165	135283165	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr5:135283165T>C	ENST00000274507.1	-	4	511	c.311A>G	c.(310-312)tAc>tGc	p.Y104C	LECT2_ENST00000522943.1_Intron|FBXL21_ENST00000467490.1_RNA|LECT2_ENST00000512872.1_Missense_Mutation_p.Y32C|LECT2_ENST00000471827.1_Intron	NM_002302.2	NP_002293.2	O14960	LECT2_HUMAN	leukocyte cell-derived chemotaxin 2	104					chemotaxis (GO:0006935)|negative regulation of Wnt signaling pathway (GO:0030178)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	identical protein binding (GO:0042802)			large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGGCTTAATGTAGAACATTTT	0.308																																																0													86	79	81					5																	135283165		2203	4300	6503	SO:0001583	missense	3950			AB007546	CCDS4190.1	5q31.1	2008-05-15			ENSG00000145826	ENSG00000145826			6550	protein-coding gene	gene with protein product		602882				9545637	Standard	NM_002302		Approved	chm-II, chm2	uc003lbe.1	O14960	OTTHUMG00000129146	ENST00000274507.1:c.311A>G	5.37:g.135283165T>C	ENSP00000274507:p.Tyr104Cys		B2RA90|O14565|Q52M49	Missense_Mutation	SNP	ENST00000274507.1	37	CCDS4190.1	.	.	.	.	.	.	.	.	.	.	T	11.93	1.784221	0.31593	.	.	ENSG00000145826	ENST00000274507;ENST00000512872	T;T	0.42513	0.97;2.95	5.52	5.52	0.82312	Peptidase M23 (1);	0.207483	0.43919	D	0.000501	T	0.30510	0.0767	L	0.33245	0.995	0.80722	D	1	B	0.11235	0.004	B	0.09377	0.004	T	0.13045	-1.0524	10	0.48119	T	0.1	-4.7712	7.7505	0.28894	0.0:0.0965:0.0:0.9035	.	104	O14960	LECT2_HUMAN	C	104;32	ENSP00000274507:Y104C;ENSP00000427012:Y32C	ENSP00000274507:Y104C	Y	-	2	0	LECT2	135311064	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.555000	0.53727	2.099000	0.63709	0.533000	0.62120	TAC		0.308	LECT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251209.1	NM_002302		C	135283165	T	C	135283165	3	2	747	1	0	0	0	0	1	0	0	0	8715	1638	57	3	148	3	LECT2	5	135283165	Missense_Mutation	SNP	T	TCGA-KO-8406-01A-11D-2310-10	52342812	135283165	45632095	22	43783											
MDN1	23195	broad.mit.edu;mdanderson.org;bcgsc.ca	37	6	90353740	90353740	+	Missense_Mutation	SNP	G	G	T			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr6:90353740G>T	ENST00000369393.3	-	102	16890	c.16775C>A	c.(16774-16776)gCc>gAc	p.A5592D	MDN1_ENST00000428876.1_Missense_Mutation_p.A5592D			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	5592					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GTGGTCAGAGGCTGTCACCAA	0.473																																																0													116	102	106					6																	90353740		2203	4300	6503	SO:0001583	missense	23195			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.16775C>A	6.37:g.90353740G>T	ENSP00000358400:p.Ala5592Asp		O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.415218	0.62511	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03413	3.94;3.94	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.08714	0.0216	L	0.42245	1.32	0.58432	D	0.999999	D	0.71674	0.998	D	0.64687	0.928	T	0.10590	-1.0623	10	0.72032	D	0.01	.	20.119	0.97953	0.0:0.0:1.0:0.0	.	5592	Q9NU22	MDN1_HUMAN	D	5592	ENSP00000358400:A5592D;ENSP00000413970:A5592D	ENSP00000358400:A5592D	A	-	2	0	MDN1	90410461	1.000000	0.71417	0.998000	0.56505	0.891000	0.51852	7.355000	0.79434	2.763000	0.94921	0.555000	0.69702	GCC		0.473	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			T	90353740	G	T	90353740	3	4	747	1	0	0	0	0	1	0	0	0	9417	1203	42	4	19	4	MDN1	6	90353740	Missense_Mutation	SNP	G	TCGA-KO-8406-01A-11D-2310-10		90353740	80761327	23	43784											
ECT2L	345930	broad.mit.edu	37	6	139164271	139164271	+	Silent	SNP	G	G	A			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr6:139164271G>A	ENST00000423192.1	+	5	659	c.498G>A	c.(496-498)acG>acA	p.T166T	ECT2L_ENST00000541398.1_Silent_p.T97T|ECT2L_ENST00000367682.2_Silent_p.T166T			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	166							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						CTTATGGGACGCTGAATGAAC	0.453			"N, Splice, Mis"		ETP ALL																																		Rec	yes		6	6q24.1	345930	epithelial cell transforming sequence 2 oncogene-like		L	0													124	124	124					6																	139164271		1945	4154	6099	SO:0001819	synonymous_variant	345930				CCDS43508.1	6q24.1	2014-03-11	2014-03-11		ENSG00000203734	ENSG00000203734		"Rho guanine nucleotide exchange factors", "F-boxes /  "other""	21118	protein-coding gene	gene with protein product	"lung specific F-box and DH domain containing protein", "F-box protein 49"		"chromosome 6 open reading frame 91", "epithelial cell transforming sequence 2 oncogene-like"	C6orf91			Standard	NM_001077706		Approved	ARHGEF32, FBXO49, LFDH	uc021zfx.1	Q008S8	OTTHUMG00000015679	ENST00000423192.1:c.498G>A	6.37:g.139164271G>A			B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	Silent	SNP	ENST00000423192.1	37	CCDS43508.1																																																																																				0.453	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042441.3	NM_001077706		A	139164271	G	A	139164271	2	1	747	1	0	0	0	0	0	0	0	1	4904	1074	38	1		1	ECT2L	6	139164271	Silent	SNP	G	TCGA-KO-8406-01A-11D-2310-10	48810531	139164271	31950796	24	43785											
NCF1	653361	mdanderson.org	37	7	74193718	74193718	+	Silent	SNP	C	C	T	rs17356100	byFrequency	TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr7:74193718C>T	ENST00000289473.4	+	4	415	c.345C>T	c.(343-345)ctC>ctT	p.L115L	NCF1_ENST00000443956.3_3'UTR	NM_000265.4	NP_000256.4	P14598	NCF1_HUMAN	neutrophil cytosolic factor 1	115	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)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular defense response (GO:0006968)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|leukotriene metabolic process (GO:0006691)|negative regulation of smooth muscle contraction (GO:0045986)|neutrophil mediated killing of fungus (GO:0070947)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|protein targeting to membrane (GO:0006612)|respiratory burst (GO:0045730)|respiratory burst involved in defense response (GO:0002679)|response to yeast (GO:0001878)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagolysosome (GO:0032010)|rough endoplasmic reticulum (GO:0005791)	electron carrier activity (GO:0009055)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|SH3 domain binding (GO:0017124)|superoxide-generating NADPH oxidase activity (GO:0016175)	p.L115L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10					Dextromethorphan(DB00514)	CCCACCTCCTCGACTTCTTCA	0.637																																																1	Substitution - coding silent(1)	endometrium(1)																																								SO:0001819	synonymous_variant	653361			M25665	CCDS34657.1	7q11.23	2014-09-17	2008-07-31		ENSG00000158517	ENSG00000158517			7660	protein-coding gene	gene with protein product	"NADPH oxidase organizer 2", "chronic granulomatous disease, autosomal 1"	608512	"neutrophil cytosolic factor 1 (47kD, chronic granulomatous disease, autosomal 1)"				Standard	NM_000265		Approved	p47phox, NOXO2, NCF1A, SH3PXD1A	uc022aft.1	P14598	OTTHUMG00000149965	ENST00000289473.4:c.345C>T	7.37:g.74193718C>T			A6NEH2|A8K7S9|O43842|Q2PP07|Q53FR5|Q9BU90|Q9BXI7|Q9BXI8|Q9UDV9|Q9UMU2	Silent	SNP	ENST00000289473.4	37	CCDS34657.1																																																																																				0.637	NCF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314560.1	NM_000265		T	74193718	C	T	74193718	2	4	747	1	0	0	0	0	0	0	0	1	10218	871	31	1		1	NCF1	7	74193718	Silent	SNP	C	TCGA-KO-8406-01A-11D-2310-10		74193718	84944945	25	43786											
TRRAP	8295	broad.mit.edu	37	7	98522828	98522828	+	Missense_Mutation	SNP	G	G	T			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr7:98522828G>T	ENST00000359863.4	+	22	3126	c.2917G>T	c.(2917-2919)Gcc>Tcc	p.A973S	TRRAP_ENST00000446306.3_Missense_Mutation_p.A972S|TRRAP_ENST00000355540.3_Missense_Mutation_p.A973S	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	973					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)	p.A973S(2)		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)			CTTCCTGGTGGCCATGATGAG	0.562																																																2	Substitution - Missense(2)	endometrium(2)											173	138	149					7																	98522828		2203	4300	6503	SO:0001583	missense	8295			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.2917G>T	7.37:g.98522828G>T	ENSP00000352925:p.Ala973Ser		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.1|22.1	4.250101|4.250101	0.80024|0.80024	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.02812|.	4.15;4.15|.	6.17|6.17	6.17|6.17	0.99709|0.99709	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.53578|0.53578	0.1805|0.1805	N|N	0.16066|0.16066	0.365|0.365	0.80722|0.80722	D|D	1|1	P;B;P|.	0.46784|.	0.884;0.297;0.461|.	B;B;B|.	0.43155|.	0.41;0.077;0.134|.	T|T	0.44143|0.44143	-0.9347|-0.9347	10|5	0.10377|.	T|.	0.69|.	.|.	20.8794|20.8794	0.99867|0.99867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	973;687;973|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	S|C	973;973;971|687	ENSP00000352925:A973S;ENSP00000347733:A973S|.	ENSP00000347733:A973S|.	A|W	+|+	1|3	0|0	TRRAP|TRRAP	98360764|98360764	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	9.728000|9.728000	0.98792|0.98792	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GCC|TGG		0.562	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		T	98522828	G	T	98522828	3	4	747	1	0	0	0	0	1	0	0	0	16606	1203	42	4	2999	4	TRRAP	7	98522828	Missense_Mutation	SNP	G	TCGA-KO-8406-01A-11D-2310-10	24329110	98522828	60615835	26	43787											
ATP6V0E2	155066	mdanderson.org	37	7	149571095	149571095	+	5'UTR	SNP	G	G	A	rs79377053	byFrequency	TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr7:149571095G>A	ENST00000464662.1	+	0	14				ATP6V0E2-AS1_ENST00000488315.1_RNA|ATP6V0E2-AS1_ENST00000461019.1_RNA|ATP6V0E2_ENST00000606024.1_5'UTR|ATP6V0E2-AS1_ENST00000464939.1_RNA|ATP6V0E2_ENST00000421974.2_Missense_Mutation_p.A30T|ATP6V0E2_ENST00000456496.2_Missense_Mutation_p.A30T|ATP6V0E2_ENST00000479613.1_5'UTR|ATP6V0E2_ENST00000425642.2_5'Flank			Q8NHE4	VA0E2_HUMAN	ATPase, H+ transporting V0 subunit e2						ATP hydrolysis coupled proton transport (GO:0015991)|cell growth (GO:0016049)|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)|vacuolar acidification (GO:0007035)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)	ATPase activity, coupled to transmembrane movement of ions (GO:0042625)|hydrogen ion transmembrane transporter activity (GO:0015078)			lung(1)	1			OV - Ovarian serous cystadenocarcinoma(82;0.00256)			CTGGGGACCCGCGCACCTGCA	0.716													G|||	682	0.136182	0.3994	0.049	5008	,	,		12396	0.0526		0.0368	False		,,,				2504	0.0307															0								G	THR/ALA,THR/ALA	991,2511		116,759,876	4	6	5		88,88	1.7	0	7	dbSNP_132	5	266,6746		7,252,3247	no	missense,missense	ATP6V0E2	NM_001100592.1,NM_145230.2	58,58	123,1011,4123	AA,AG,GG		3.7935,28.2981,11.9555	probably-damaging,probably-damaging	30/214,30/131	149571095	1257,9257	1751	3506	5257	SO:0001623	5_prime_UTR_variant	155066			AK057700	CCDS47742.1, CCDS55181.1	7q36.1	2010-04-21	2006-10-12	2006-10-12	ENSG00000171130	ENSG00000171130		"ATPases / V-type"	21723	protein-coding gene	gene with protein product		611019	"chromosome 7 open reading frame 32", "ATPase, H+ transporting V0 subunit E isoform 2-like (rat)"	C7orf32, ATP6V0E2L			Standard	XM_005249958		Approved		uc003wgs.3	Q8NHE4	OTTHUMG00000158094	ENST00000464662.1:c.-60G>A	7.37:g.149571095G>A			A2T863|A2T8L7|B5MDP5|J3KQW7|Q6MZW1|Q75L47|Q7Z4R7|Q8N7I8	Missense_Mutation	SNP	ENST00000464662.1	37		283	0.1295787545787546	188	0.3821138211382114	21	0.058011049723756904	42	0.07342657342657342	32	0.04221635883905013	G	14.56	2.570645	0.45798	0.282981	0.037935	ENSG00000171130	ENST00000421974;ENST00000456496	.	.	.	2.57	1.67	0.24075	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.43550	P	0.004141999999999979	P	0.40638	0.725	B	0.27608	0.081	T	0.43988	-0.9357	7	0.87932	D	0	.	7.3999	0.26958	0.0:0.2709:0.7291:0.0	.	30	E9PAS2	.	T	30	.	ENSP00000411672:A30T	A	+	1	0	ATP6V0E2	149202028	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.103000	0.15292	0.651000	0.30788	0.563000	0.77884	GCG		0.716	ATP6V0E2-007	KNOWN	alternative_3_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000350177.2	NM_145230		A	149571095	G	A	149571095	1	1	747	0	1	0	0	0	0	0	0	0	1176	1087	38	1		1	ATP6V0E2	7	149571095	5'UTR	SNP	G	TCGA-KO-8406-01A-11D-2310-10	51048267	149571095	9567568	27	43788											
MLL3	58508	mdanderson.org	37	7	151945291	151945291	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr7:151945291G>A	ENST00000262189.6	-	14	2446	c.2228C>T	c.(2227-2229)cCt>cTt	p.P743L	KMT2C_ENST00000355193.2_Missense_Mutation_p.P743L	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	743					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)										CTCAATTGTAGGAGTCATTTC	0.378																																																0													79	77	77					7																	151945291		2203	4298	6501	SO:0001583	missense	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.2228C>T	7.37:g.151945291G>A	ENSP00000262189:p.Pro743Leu		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	9.088	1.001012	0.19121	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.82984	-1.66;-1.67	5.53	3.69	0.42338	.	0.700771	0.12290	N	0.482124	T	0.67850	0.2937	N	0.12746	0.255	0.27555	N	0.950388	B	0.09022	0.002	B	0.06405	0.002	T	0.55673	-0.8104	10	0.25106	T	0.35	.	9.9948	0.41893	0.1645:0.0:0.8355:0.0	.	743	Q8NEZ4	MLL3_HUMAN	L	743	ENSP00000262189:P743L;ENSP00000347325:P743L	ENSP00000262189:P743L	P	-	2	0	MLL3	151576224	0.956000	0.32656	0.898000	0.35279	0.657000	0.38888	3.175000	0.50855	1.304000	0.44892	0.650000	0.86243	CCT		0.378	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			A	151945291	G	A	151945291	3	1	747	1	0	0	0	0	1	0	0	0	9624	1000	35	2	12691	2	MLL3	7	151945291	Missense_Mutation	SNP	G	TCGA-KO-8406-01A-11D-2310-10	2374196	151945291	7193372	28	43789											
EGR3	1960	broad.mit.edu	37	8	22548132	22548132	+	Missense_Mutation	SNP	G	G	T			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr8:22548132G>T	ENST00000317216.2	-	2	1375	c.1018C>A	c.(1018-1020)Cgc>Agc	p.R340S	EGR3_ENST00000524088.1_5'UTR|EGR3_ENST00000519492.1_3'UTR|RP11-459E5.1_ENST00000523627.1_RNA|EGR3_ENST00000522910.1_Missense_Mutation_p.R302S	NM_001199881.1|NM_004430.2	NP_001186810.1|NP_004421.2	Q06889	EGR3_HUMAN	early growth response 3	340					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|circadian rhythm (GO:0007623)|endothelial cell chemotaxis (GO:0035767)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|neuromuscular synaptic transmission (GO:0007274)|peripheral nervous system development (GO:0007422)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of gamma-delta T cell differentiation (GO:0045586)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		GCAAACTTGCGCCCGCAGAAC	0.632																																																0													62	56	58					8																	22548132		2203	4300	6503	SO:0001583	missense	1960			X63741	CCDS6033.1, CCDS56528.1	8p23-p21	2013-01-08			ENSG00000179388	ENSG00000179388		"Zinc fingers, C2H2-type"	3240	protein-coding gene	gene with protein product	"zinc finger protein pilot"	602419				1906159, 11909874	Standard	NM_004430		Approved	PILOT	uc003xcm.1	Q06889	OTTHUMG00000097825	ENST00000317216.2:c.1018C>A	8.37:g.22548132G>T	ENSP00000318057:p.Arg340Ser		A8K8U9|B4DHJ5|E7EW38|Q2M3W2	Missense_Mutation	SNP	ENST00000317216.2	37	CCDS6033.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.317109	0.81469	.	.	ENSG00000179388	ENST00000317216;ENST00000522910;ENST00000435199	T;T	0.18960	2.18;2.18	5.62	5.62	0.85841	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.055456	0.64402	D	0.000001	T	0.40886	0.1135	L	0.42581	1.335	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.91635	0.994;0.999	T	0.13308	-1.0514	10	0.87932	D	0	-25.3596	17.1549	0.86788	0.0:0.0:1.0:0.0	.	302;340	E7EW38;Q06889	.;EGR3_HUMAN	S	340;302;181	ENSP00000318057:R340S;ENSP00000430310:R302S	ENSP00000318057:R340S	R	-	1	0	EGR3	22604077	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.832000	0.48152	2.643000	0.89663	0.655000	0.94253	CGC		0.632	EGR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215098.1	NM_004430		T	22548132	G	T	22548132	3	4	747	1	0	0	0	0	1	0	0	0	4975	1087	38	4	149	4	EGR3	8	22548132	Missense_Mutation	SNP	G	TCGA-KO-8406-01A-11D-2310-10		22548132	123815890	29	43790											
PLEC	5339	mdanderson.org	37	8	144997656	144997656	+	Silent	SNP	C	C	T	rs7016416	byFrequency	TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr8:144997656C>T	ENST00000322810.4	-	31	7021	c.6852G>A	c.(6850-6852)gcG>gcA	p.A2284A	PLEC_ENST00000357649.2_Silent_p.A2151A|PLEC_ENST00000356346.3_Silent_p.A2133A|PLEC_ENST00000354589.3_Silent_p.A2147A|PLEC_ENST00000398774.2_Silent_p.A2115A|PLEC_ENST00000436759.2_Silent_p.A2174A|PLEC_ENST00000527096.1_Silent_p.A2170A|PLEC_ENST00000354958.2_Silent_p.A2125A|PLEC_ENST00000345136.3_Silent_p.A2147A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2284	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						GTGCCCGCCGCGCCGCCTCTT	0.692													C|||	1153	0.230232	0.028	0.2954	5008	,	,		12031	0.1429		0.4245	False		,,,				2504	0.3476															0								C	,,,,,,,	329,3527		26,277,1625	8	11	10		6522,6399,6375,6852,6345,6441,6453,6441	-7.4	0	8	dbSNP_116	10	3097,4915		616,1865,1525	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	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	,,,,,,,	642,2142,3150	TT,TC,CC		38.6545,8.5322,28.8675	,,,,,,,	2174/4575,2133/4534,2125/4526,2284/4685,2115/4516,2147/4548,2151/4552,2147/4548	144997656	3426,8442	1928	4006	5934	SO:0001819	synonymous_variant	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.6852G>A	8.37:g.144997656C>T			Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																				0.692	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		T	144997656	C	T	144997656	2	4	747	1	0	0	0	0	0	0	0	1	12054	755	27	1		1	PLEC	8	144997656	Silent	SNP	C	TCGA-KO-8406-01A-11D-2310-10	122449524	144997656	1366366	30	43791											
FOXD4	2298	broad.mit.edu	37	9	117398	117400	+	In_Frame_Del	DEL	GGC	GGC	-			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	GGC	GGC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr9:117398_117400delGGC	ENST00000382500.2	-	1	1017_1019	c.720_722delGCC	c.(718-723)cagcca>caa	p.P241del		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	241	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)		CCCCGGGACTGGCTGCGGCGGGG	0.734																																																0																																										SO:0001651	inframe_deletion	2298			U13223	CCDS34975.1	9p24.3	2014-09-17			ENSG00000170122	ENSG00000170122		"Forkhead boxes"	3805	protein-coding gene	gene with protein product		601092		FKHL9		7957066, 8825632, 12234674	Standard	NM_207305		Approved	FREAC5, FOXD4a	uc003zfz.4	Q12950	OTTHUMG00000021015	ENST00000382500.2:c.720_722delGCC	9.37:g.117398_117400delGGC	ENSP00000371940:p.Pro241del		B2RN05|B9EGL7|Q5VVK1|Q8WXT6	In_Frame_Del	DEL	ENST00000382500.2	37	CCDS34975.1																																																																																				0.734	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055433.1	NM_207305		-	117400	GGC	-	117398	7	5	747	1	0	1	0	1	0	0	0	0	6001	1348	47	0	601	0	FOXD4	9	117398	In_Frame_Del	DEL	GGC	TCGA-KO-8406-01A-11D-2310-10		117398	141096033	31	43792											
MED27	9442	mdanderson.org	37	9	134735980	134735980	+	Missense_Mutation	SNP	G	G	A	rs557626461	byFrequency	TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr9:134735980G>A	ENST00000292035.5	-	8	944	c.881C>T	c.(880-882)cCg>cTg	p.P294L	MED27_ENST00000357028.2_Missense_Mutation_p.P258L	NM_004269.3	NP_004260.2	Q6P2C8	MED27_HUMAN	mediator complex subunit 27	294					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)	p.P294L(4)|p.P294fs*>18(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	18		Myeloproliferative disorder(178;0.206)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193)		CCTCCATGTCGGGGGAAGGCC	0.597													G|||	40	0.00798722	0.003	0.0072	5008	,	,		18345	0.0		0.0169	False		,,,				2504	0.0143				Colon(41;784 923 6932 42329 52483)											5	Substitution - Missense(4)|Deletion - Frameshift(1)	endometrium(2)|kidney(2)|large_intestine(1)											30	29	29					9																	134735980		2203	4300	6503	SO:0001583	missense	9442			AF104252	CCDS6945.1, CCDS59153.1, CCDS69689.1	9q34.13	2008-02-05	2007-07-30	2007-07-30	ENSG00000160563	ENSG00000160563			2377	protein-coding gene	gene with protein product		605044	"cofactor required for Sp1 transcriptional activation, subunit 8, 34kDa"	CRSP8		9989412	Standard	NM_004269		Approved	TRAP37, CRSP34	uc004cbe.2	Q6P2C8	OTTHUMG00000020833	ENST00000292035.5:c.881C>T	9.37:g.134735980G>A	ENSP00000292035:p.Pro294Leu		O95401|Q4F964|Q5VTA4|Q5VTA5|Q9BU57|Q9NYR4|V9GYV9	Missense_Mutation	SNP	ENST00000292035.5	37	CCDS6945.1	.	.	.	.	.	.	.	.	.	.	G	31	5.095595	0.94197	.	.	ENSG00000160563	ENST00000292035;ENST00000357028;ENST00000372184	.	.	.	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.84014	0.5379	M	0.87180	2.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.992;1.0	D	0.86894	0.2050	9	0.87932	D	0	-0.1478	16.105	0.81213	0.0:0.0:1.0:0.0	.	258;294	Q6P2C8-2;Q6P2C8	.;MED27_HUMAN	L	294;220;258	.	ENSP00000292035:P294L	P	-	2	0	MED27	133725801	1.000000	0.71417	0.949000	0.38748	0.987000	0.75469	7.762000	0.85270	2.472000	0.83506	0.655000	0.94253	CCG		0.597	MED27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054770.2	NM_004269		A	134735980	G	A	134735980	3	1	747	1	0	0	0	0	1	0	0	0	9447	1116	39	1	58	1	MED27	9	134735980	Missense_Mutation	SNP	G	TCGA-KO-8406-01A-11D-2310-10	134618582	134735980	6477451	32	43793											
LCN1	3933	broad.mit.edu	37	9	138415126	138415127	+	Frame_Shift_Ins	INS	-	-	G	rs146192526		TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr9:138415126_138415127insG	ENST00000263598.2	+	3	330_331	c.270_271insG	c.(271-273)gagfs	p.E91fs	LCN1_ENST00000371781.3_Frame_Shift_Ins_p.E91fs	NM_001252617.1|NM_001252618.1|NM_001252619.1|NM_002297.3	NP_001239546.1|NP_001239547.1|NP_001239548.1|NP_002288.1	P31025	LCN1_HUMAN	lipocalin 1	91					negative regulation of endopeptidase activity (GO:0010951)|proteolysis (GO:0006508)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|sensory perception of taste (GO:0050909)|transport (GO:0006810)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)	13		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)		AGAAAACTGACGAGCCGGGAAA	0.644																																																0																																										SO:0001589	frameshift_variant	3933				CCDS6991.1	9q34	2011-11-14	2011-11-01		ENSG00000160349	ENSG00000160349		"Lipocalins"	6525	protein-coding gene	gene with protein product	"Von Ebner gland protein", "tear lipocalin", "lipocalin 1-like 2", "tear prealbumin"	151675	"lipocalin 1 (protein migrating faster than albumin, tear prealbumin)", "lipocalin 1 (tear prealbumin)"			8276406	Standard	NM_002297		Approved	VEGP, TP, PMFA, MGC71975, TLC	uc022bpk.1	P31025	OTTHUMG00000020908	ENST00000263598.2:c.271dupG	9.37:g.138415127_138415127dupG	ENSP00000263598:p.Glu91fs		Q5T8A1	Frame_Shift_Ins	INS	ENST00000263598.2	37	CCDS6991.1																																																																																				0.644	LCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054992.1	NM_002297		G	138415127	-	G	138415126	7	5	747	1	0	1	1	0	0	0	0	0	8682	535	19	0	280	0	LCN1	9	138415126	Frame_Shift_Ins	INS	-	TCGA-KO-8406-01A-11D-2310-10	3679146	138415126	2798305	33	43794											
KCNT1	57582	hgsc.bcm.edu	37	9	138678160	138678160	+	Missense_Mutation	SNP	C	C	T	rs200642629	byFrequency	TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr9:138678160C>T	ENST00000263604.3	+	28	3217	c.3217C>T	c.(3217-3219)Ccc>Tcc	p.P1073S	KCNT1_ENST00000298480.5_Missense_Mutation_p.P1099S|KCNT1_ENST00000371757.2_Missense_Mutation_p.P1099S|KCNT1_ENST00000488444.2_Missense_Mutation_p.P1078S|KCNT1_ENST00000486577.2_Missense_Mutation_p.P1056S|KCNT1_ENST00000490355.2_Missense_Mutation_p.P1077S|KCNT1_ENST00000487664.1_Missense_Mutation_p.P1054S|KCNT1_ENST00000491806.2_Missense_Mutation_p.P1064S			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	1073					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)		CGGCGGTGACCCCGCAGAGCA	0.751													c|||	12	0.00239617	0.0008	0.0043	5008	,	,		9758	0.0		0.005	False		,,,				2504	0.0031															0									SER/PRO	5,3799		0,5,1897	5	8	7		3295	2.8	0	9		7	43,7487		0,43,3722	no	missense	KCNT1	NM_020822.2	74	0,48,5619	TT,TC,CC		0.571,0.1314,0.4235	benign	1099/1236	138678160	48,11286	1902	3765	5667	SO:0001583	missense	57582			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.3217C>T	9.37:g.138678160C>T	ENSP00000263604:p.Pro1073Ser		B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Missense_Mutation	SNP	ENST00000263604.3	37		.	.	.	.	.	.	.	.	.	.	C	2.688	-0.273722	0.05679	0.001314	0.00571	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;T	0.20200	2.12;2.12;2.11;2.09	4.75	2.83	0.33086	.	0.398942	0.25397	U	0.030971	T	0.07052	0.0179	N	0.14661	0.345	0.34754	D	0.732071	B;B;B	0.11235	0.001;0.0;0.004	B;B;B	0.16289	0.004;0.001;0.015	T	0.27226	-1.0080	10	0.08837	T	0.75	-1.9472	9.2418	0.37500	0.1443:0.7787:0.0:0.077	.	1066;1099;1054	C9JYL2;B9EGP2;G5E9V0	.;.;.	S	1054;1099;1099;1058;1066;1080;1078;1073	ENSP00000417851:P1054S;ENSP00000298480:P1099S;ENSP00000360822:P1099S;ENSP00000263604:P1073S	ENSP00000263604:P1073S	P	+	1	0	KCNT1	137817981	1.000000	0.71417	0.024000	0.17045	0.003000	0.03518	4.140000	0.58031	0.393000	0.25203	0.586000	0.80456	CCC		0.751	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822		T	138678160	C	T	138678160	3	4	747	1	0	0	0	0	1	0	0	0	8093	623	22	2	3409	2	KCNT1	9	138678160	Missense_Mutation	SNP	C	TCGA-KO-8406-01A-11D-2310-10	263034	138678160	2535271	34	43795											
CARD9	64170	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	9	139262146	139262146	+	Silent	SNP	C	C	T	rs574560841	byFrequency	TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr9:139262146C>T	ENST00000371732.5	-	8	1377	c.1212G>A	c.(1210-1212)gcG>gcA	p.A404A	CARD9_ENST00000460290.1_5'Flank|CARD9_ENST00000371734.3_Silent_p.A404A	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	404					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)		CCAGTAGCTGCGCCTCACACT	0.726													C|||	2	0.000399361	0.0	0.0014	5008	,	,		16164	0.0		0.001	False		,,,				2504	0.0															0													33	29	30					9																	139262146		2185	4291	6476	SO:0001819	synonymous_variant	64170			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.1212G>A	9.37:g.139262146C>T			Q5SXM5|Q5SXM6|Q9H854	Silent	SNP	ENST00000371732.5	37	CCDS6997.1																																																																																				0.726	CARD9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055053.1	NM_052813		T	139262146	C	T	139262146	2	4	747	1	0	0	0	0	0	0	0	1	2654	755	27	1		1	CARD9	9	139262146	Silent	SNP	C	TCGA-KO-8406-01A-11D-2310-10	583986	139262146	1951285	35	43796											
MUC2	4583	mdanderson.org	37	11	1092860	1092860	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr11:1092860C>T	ENST00000441003.2	+	30	4706	c.4679C>T	c.(4678-4680)aCg>aTg	p.T1560M	MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000361558.6_Intron|MUC2_ENST00000359061.5_Missense_Mutation_p.T1561M	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				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)	ACCCCAACAACGACACCCATC	0.627																																																0													126	161	149					11																	1092860		1924	3596	5520	SO:0001583	missense	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.4679C>T	11.37:g.1092860C>T	ENSP00000415183:p.Thr1560Met		Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	c	3.171	-0.170008	0.06461	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.15718	2.4;2.8	1.61	0.458	0.16670	.	7739.210000	0.00465	U	0.000107	T	0.11623	0.0283	.	.	.	0.09310	N	1	D	0.60160	0.987	B	0.34489	0.184	T	0.37731	-0.9693	9	0.46703	T	0.11	.	7.5682	0.27892	0.2572:0.7428:0.0:0.0	.	1560	E7EUV1	.	M	1560;1561	ENSP00000415183:T1560M;ENSP00000351956:T1561M	ENSP00000351956:T1561M	T	+	2	0	MUC2	1082860	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	0.339000	0.19875	-0.001000	0.14495	0.109000	0.15622	ACG		0.627	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		T	1092860	C	T	1092860	3	4	747	1	0	0	0	0	1	0	0	0	9977	536	19	1	4797	1	MUC2	11	1092860	Missense_Mutation	SNP	C	TCGA-KO-8406-01A-11D-2310-10		1092860	133913656	36	43797			2	109		3	3	495	N	T_C	7.333477e-07
MUC2	4583	mdanderson.org	37	11	1092928	1092928	+	Missense_Mutation	SNP	T	T	A	rs12791677		TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr11:1092928T>A	ENST00000441003.2	+	30	4774	c.4747T>A	c.(4747-4749)Tcg>Acg	p.S1583T	MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000361558.6_Intron|MUC2_ENST00000359061.5_Missense_Mutation_p.S1584T	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				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)	gaccccaacatcgacacccat	0.632																																																0																																										SO:0001583	missense	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.4747T>A	11.37:g.1092928T>A	ENSP00000415183:p.Ser1583Thr		Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	T	0.629	-0.817927	0.02776	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.12255	2.7;3.41	1.75	-3.51	0.04696	.	3.022220	0.02729	N	0.114829	T	0.06005	0.0156	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.29119	-1.0022	9	0.12766	T	0.61	.	0.5592	0.00676	0.2873:0.3401:0.1565:0.2162	.	1583	E7EUV1	.	T	1583;1584	ENSP00000415183:S1583T;ENSP00000351956:S1584T	ENSP00000351956:S1584T	S	+	1	0	MUC2	1082928	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-3.679000	0.00395	-2.640000	0.00429	-1.550000	0.00899	TCG		0.632	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		A	1092928	T	A	1092928	3	1	747	1	0	0	0	0	1	0	0	0	9977	1435	50	5	4865	5	MUC2	11	1092928	Missense_Mutation	SNP	T	TCGA-KO-8406-01A-11D-2310-10	68	1092928	133913588	37	43798			2	109		3	3	495	N	T_C	7.333477e-07
MUC2	4583	mdanderson.org	37	11	1093354	1093354	+	Missense_Mutation	SNP	T	T	A	rs56290335	byFrequency	TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr11:1093354T>A	ENST00000441003.2	+	30	5200	c.5173T>A	c.(5173-5175)Tcc>Acc	p.S1725T	MUC2_ENST00000333592.6_Missense_Mutation_p.S13T|MUC2_ENST00000361558.6_Intron|MUC2_ENST00000359061.5_Missense_Mutation_p.S1692T	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				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)		p.S1725T(1)|p.S1692T(1)		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)	gacacccatctccaccaccac	0.647																																																2	Substitution - Missense(2)	stomach(2)											207	244	231					11																	1093354		1965	3771	5736	SO:0001583	missense	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.5173T>A	11.37:g.1093354T>A	ENSP00000415183:p.Ser1725Thr		Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	A	0.005	-2.130853	0.00338	.	.	ENSG00000198788	ENST00000441003;ENST00000359061;ENST00000333592	T;T;T	0.05580	3.56;3.42;3.71	1.49	-2.99	0.05497	.	0.209755	0.18974	U	0.126050	T	0.02156	0.0067	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40232	-0.9574	9	0.07813	T	0.8	.	3.3544	0.07164	0.3578:0.2012:0.0:0.441	rs56290335;rs61051760	1725	E7EUV1	.	T	1725;1692;13	ENSP00000415183:S1725T;ENSP00000351956:S1692T;ENSP00000331373:S13T	ENSP00000331373:S13T	S	+	1	0	MUC2	1083354	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.518000	0.06267	-2.490000	0.00517	-1.234000	0.01563	TCC		0.647	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		A	1093354	T	A	1093354	3	1	747	1	0	0	0	0	1	0	0	0	9977	1551	54	5	5291	5	MUC2	11	1093354	Missense_Mutation	SNP	T	TCGA-KO-8406-01A-11D-2310-10	426	1093354	133913162	38	43799			2	109		3	3	495	N	T_C	7.333477e-07
FOLH1	2346	bcgsc.ca	37	11	49204779	49204779	+	Missense_Mutation	SNP	C	C	T	rs116795343	byFrequency	TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr11:49204779C>T	ENST00000256999.2	-	7	1102	c.842G>A	c.(841-843)cGt>cAt	p.R281H	FOLH1_ENST00000340334.7_Missense_Mutation_p.R266H|FOLH1_ENST00000356696.3_Missense_Mutation_p.R281H|FOLH1_ENST00000533034.1_Missense_Mutation_p.R266H|FOLH1_ENST00000343844.4_De_novo_Start_OutOfFrame	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	281	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)	p.R281L(1)		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)	TGCAATTCCACGCCTATAAGC	0.348																																																1	Substitution - Missense(1)	lung(1)											72	73	73					11																	49204779		2201	4298	6499	SO:0001583	missense	2346			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.842G>A	11.37:g.49204779C>T	ENSP00000256999:p.Arg281His		A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Missense_Mutation	SNP	ENST00000256999.2	37	CCDS7946.1	.	.	.	.	.	.	.	.	.	.	C	2.929	-0.221410	0.06061	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000533034;ENST00000389724	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	2.76	-1.12	0.09808	.	0.978445	0.08346	N	0.960084	T	0.21427	0.0516	N	0.14661	0.345	0.80722	D	1	B;B;B;B	0.06786	0.001;0.001;0.0;0.0	B;B;B;B	0.06405	0.001;0.0;0.002;0.0	T	0.23655	-1.0182	10	0.14656	T	0.56	.	6.6038	0.22714	0.0:0.3193:0.0:0.6807	.	266;266;281;281	Q04609-9;Q04609-7;Q04609-8;Q04609	.;.;.;FOLH1_HUMAN	H	281;281;266;266;281	ENSP00000256999:R281H;ENSP00000349129:R281H;ENSP00000344131:R266H;ENSP00000431463:R266H	ENSP00000256999:R281H	R	-	2	0	FOLH1	49161355	0.002000	0.14202	0.792000	0.32020	0.272000	0.26649	-0.922000	0.04004	-0.085000	0.12573	0.194000	0.17425	CGT		0.348	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476		T	49204779	C	T	49204779	3	4	747	1	0	0	0	0	1	0	0	0	5981	536	19	1	1462	1	FOLH1	11	49204779	Missense_Mutation	SNP	C	TCGA-KO-8406-01A-11D-2310-10	48111425	49204779	85801737	39	43800											
OR5M9	390162	mdanderson.org	37	11	56230790	56230790	+	Missense_Mutation	SNP	G	G	T			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr11:56230790G>T	ENST00000279791.1	-	1	87	c.88C>A	c.(88-90)Cta>Ata	p.L30I		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	30						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)					TAAACCGCTAGGAACACCACA	0.433																																																0													52	51	51					11																	56230790		2201	4296	6497	SO:0001583	missense	390162			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.88C>A	11.37:g.56230790G>T	ENSP00000279791:p.Leu30Ile		Q6IEW5|Q96RB9	Missense_Mutation	SNP	ENST00000279791.1	37	CCDS31531.1	.	.	.	.	.	.	.	.	.	.	G	12.10	1.837227	0.32513	.	.	ENSG00000150269	ENST00000279791	T	0.01854	4.6	4.82	0.603	0.17541	.	0.000000	0.35615	N	0.003085	T	0.10895	0.0266	M	0.88906	2.99	0.27153	N	0.961363	D	0.76494	0.999	D	0.87578	0.998	T	0.03166	-1.1065	10	0.72032	D	0.01	-4.7656	5.3013	0.15780	0.2686:0.0:0.5859:0.1455	.	30	Q8NGP3	OR5M9_HUMAN	I	30	ENSP00000279791:L30I	ENSP00000279791:L30I	L	-	1	2	OR5M9	55987366	0.000000	0.05858	0.485000	0.27403	0.065000	0.16274	-0.600000	0.05693	0.147000	0.19030	-0.272000	0.10252	CTA		0.433	OR5M9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391638.1	NM_001004743		T	56230790	G	T	56230790	3	4	747	1	0	0	0	0	1	0	0	0	11179	991	35	4	846	4	OR5M9	11	56230790	Missense_Mutation	SNP	G	TCGA-KO-8406-01A-11D-2310-10	7026011	56230790	78775726	40	43801											
C11orf9	745	broad.mit.edu	37	11	61537797	61537797	+	Silent	SNP	A	A	C			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr11:61537797A>C	ENST00000278836.5	+	5	636	c.540A>C	c.(538-540)ccA>ccC	p.P180P	TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Silent_p.P171P	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	180	Pro-rich.				central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)										ATCCGCCCCCACCTCCAGCCC	0.692																																																0													10	9	9					11																	61537797		2174	4280	6454	SO:0001819	synonymous_variant	745				CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"myelin gene regulatory factor"	608329	"chromosome 11 open reading frame 9"	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.540A>C	11.37:g.61537797A>C			O43582|Q9P1Q6	Silent	SNP	ENST00000278836.5	37	CCDS44622.1																																																																																				0.692	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398519.2	NM_013279		C	61537797	A	C	61537797	2	2	747	1	0	0	0	0	0	0	0	1	1673	146	6	5		5	C11orf9	11	61537797	Silent	SNP	A	TCGA-KO-8406-01A-11D-2310-10	5307007	61537797	73468719	41	43802											
SLC22A11	55867	hgsc.bcm.edu;mdanderson.org	37	11	64326666	64326666	+	Silent	SNP	C	C	T	rs145210367		TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr11:64326666C>T	ENST00000301891.4	+	2	827	c.453C>T	c.(451-453)tcC>tcT	p.S151S	SLC22A11_ENST00000377585.3_Silent_p.S151S|SLC22A11_ENST00000377581.3_Silent_p.S151S|SLC22A11_ENST00000490834.1_Intron	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	151					organic anion transport (GO:0015711)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Aminohippurate(DB00345)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Estradiol(DB00783)|Furosemide(DB00695)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Novobiocin(DB01051)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Salicylic acid(DB00936)|Tetracycline(DB00759)|Zidovudine(DB00495)	TCTTCATGTCCGGGATCCTGG	0.607																																																0								C		0,4402		0,0,2201	136	121	126		453	-4.5	0	11	dbSNP_134	126	1,8593		0,1,4296	no	coding-synonymous	SLC22A11	NM_018484.2		0,1,6497	TT,TC,CC		0.0116,0.0,0.0077		151/551	64326666	1,12995	2201	4297	6498	SO:0001819	synonymous_variant	55867			AB026116	CCDS8074.1	11q13.3	2013-05-22	2008-01-11		ENSG00000168065	ENSG00000168065		"Solute carriers"	18120	protein-coding gene	gene with protein product		607097				10660625, 15576633, 17229912	Standard	NM_018484		Approved	OAT4	uc001oai.3	Q9NSA0	OTTHUMG00000045142	ENST00000301891.4:c.453C>T	11.37:g.64326666C>T			A8K426|Q53GR2|Q6ZP72|Q8NBU4	Silent	SNP	ENST00000301891.4	37	CCDS8074.1																																																																																				0.607	SLC22A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104886.4	NM_018484		T	64326666	C	T	64326666	2	4	747	1	0	0	0	0	0	0	0	1	14448	639	23	1		1	SLC22A11	11	64326666	Silent	SNP	C	TCGA-KO-8406-01A-11D-2310-10	2788869	64326666	70679850	42	43803											
KLC2	64837	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	11	66033395	66033395	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr11:66033395G>A	ENST00000417856.1	+	13	1757	c.1514G>A	c.(1513-1515)cGc>cAc	p.R505H	KLC2_ENST00000421552.1_Missense_Mutation_p.R428H|KLC2_ENST00000394066.2_Missense_Mutation_p.R428H|KLC2_ENST00000394067.2_Missense_Mutation_p.R505H|RP11-867G23.2_ENST00000533287.1_RNA|KLC2_ENST00000394078.1_Intron|RAB1B_ENST00000311481.6_5'Flank|KLC2_ENST00000394065.2_Missense_Mutation_p.R366H|KLC2_ENST00000316924.5_Missense_Mutation_p.R505H|RP11-867G23.1_ENST00000530805.1_RNA|RAB1B_ENST00000527397.1_5'Flank	NM_001134775.1	NP_001128247.1	Q9H0B6	KLC2_HUMAN	kinesin light chain 2	505					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon cargo transport (GO:0008088)|blood coagulation (GO:0007596)|microtubule-based movement (GO:0007018)	ciliary rootlet (GO:0035253)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinesin I complex (GO:0016938)|membrane (GO:0016020)|microtubule (GO:0005874)|neuron projection (GO:0043005)|protein complex (GO:0043234)	kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						CGGGGAGACCGCCGCAGCAGC	0.662																																																0													23	29	27					11																	66033395		2182	4278	6460	SO:0001583	missense	64837			AK022449	CCDS8130.1, CCDS44653.1	11q13.1	2013-01-10			ENSG00000174996	ENSG00000174996		"Tetratricopeptide (TTC) repeat domain containing"	20716	protein-coding gene	gene with protein product		611729				9624122	Standard	NM_022822		Approved	FLJ12387	uc001ohb.2	Q9H0B6	OTTHUMG00000133757	ENST00000417856.1:c.1514G>A	11.37:g.66033395G>A	ENSP00000399403:p.Arg505His		A8MXL7|B2RDY4|Q9H9C8|Q9HA20	Missense_Mutation	SNP	ENST00000417856.1	37	CCDS8130.1	.	.	.	.	.	.	.	.	.	.	G	12.37	1.918644	0.33908	.	.	ENSG00000174996	ENST00000417856;ENST00000394067;ENST00000316924;ENST00000421552;ENST00000394066;ENST00000394065	T;T;T;T;T;D	0.84730	-1.23;-1.23;-1.23;-1.23;-1.23;-1.89	3.71	2.8	0.32819	.	0.000000	0.64402	D	0.000004	T	0.78666	0.4319	M	0.62723	1.935	0.37978	D	0.9335	B;B;B	0.25105	0.0;0.013;0.118	B;B;B	0.20955	0.001;0.001;0.032	T	0.69946	-0.5007	10	0.16420	T	0.52	-7.9387	7.7476	0.28877	0.2114:0.0:0.7886:0.0	.	366;428;505	A8MZ87;A8MXL7;Q9H0B6	.;.;KLC2_HUMAN	H	505;505;505;428;428;366	ENSP00000399403:R505H;ENSP00000377631:R505H;ENSP00000314837:R505H;ENSP00000408484:R428H;ENSP00000377630:R428H;ENSP00000377629:R366H	ENSP00000314837:R505H	R	+	2	0	KLC2	65789971	1.000000	0.71417	1.000000	0.80357	0.643000	0.38383	2.303000	0.43646	0.765000	0.33221	-0.424000	0.05967	CGC		0.662	KLC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258200.1	NM_022822		A	66033395	G	A	66033395	3	1	747	1	0	0	0	0	1	0	0	0	8336	1087	38	1	1560	1	KLC2	11	66033395	Missense_Mutation	SNP	G	TCGA-KO-8406-01A-11D-2310-10	1706729	66033395	68973121	43	43804											
CDK2AP2	10263	broad.mit.edu	37	11	67274865	67274865	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr11:67274865C>T	ENST00000301488.3	-	3	832	c.284G>A	c.(283-285)aGc>aAc	p.S95N	PITPNM1_ENST00000356404.3_5'Flank|PITPNM1_ENST00000436757.2_5'Flank|CDK2AP2_ENST00000531506.1_Missense_Mutation_p.S95N	NM_005851.3	NP_005842.1	O75956	CDKA2_HUMAN	cyclin-dependent kinase 2 associated protein 2	95										lung(1)	1						GGCGCTCTTGCTGCCAGCATA	0.597																																																0													63	64	64					11																	67274865		2200	4295	6495	SO:0001583	missense	10263			AF089814	CCDS8169.1	11q13	2010-05-17	2008-11-04		ENSG00000167797	ENSG00000167797			30833	protein-coding gene	gene with protein product	"tumor suppressor deleted in oral cancer related 1"		"CDK2-associated protein 2"			10082655	Standard	NM_005851		Approved	DOC-1R, p14	uc001oma.4	O75956		ENST00000301488.3:c.284G>A	11.37:g.67274865C>T	ENSP00000301488:p.Ser95Asn			Missense_Mutation	SNP	ENST00000301488.3	37	CCDS8169.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.950460	0.92660	.	.	ENSG00000167797	ENST00000301488;ENST00000531506	.	.	.	4.92	4.92	0.64577	.	0.293454	0.46145	D	0.000320	T	0.68933	0.3055	L	0.43923	1.385	0.80722	D	1	D;D	0.76494	0.999;0.991	D;D	0.83275	0.996;0.982	T	0.69091	-0.5237	9	0.49607	T	0.09	-22.2115	15.6517	0.77099	0.0:1.0:0.0:0.0	.	95;95	Q6IAV4;O75956	.;CDKA2_HUMAN	N	95	.	ENSP00000301488:S95N	S	-	2	0	CDK2AP2	67031441	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.239000	0.78182	2.553000	0.86117	0.561000	0.74099	AGC		0.597	CDK2AP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395535.1	NM_005851		T	67274865	C	T	67274865	3	4	747	1	0	0	0	0	1	0	0	0	3141	797	28	2	104	2	CDK2AP2	11	67274865	Missense_Mutation	SNP	C	TCGA-KO-8406-01A-11D-2310-10	1241470	67274865	67731651	44	43805											
FZD4	8322	mdanderson.org	37	11	86662232	86662232	+	Silent	SNP	T	T	C			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr11:86662232T>C	ENST00000531380.1	-	2	1871	c.1566A>G	c.(1564-1566)agA>agG	p.R522R	PRSS23_ENST00000533902.2_Intron|PRSS23_ENST00000531521.1_Intron	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled class receptor 4	522					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)				AACCATTTCCTCTCTTCTCTC	0.468																																																0													138	146	144					11																	86662232		2201	4299	6500	SO:0001819	synonymous_variant	8322			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.1566A>G	11.37:g.86662232T>C			A8K9Q3|Q14C97|Q6S9E4	Silent	SNP	ENST00000531380.1	37	CCDS8279.1																																																																																				0.468	FZD4-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393818.2	NM_012193		C	86662232	T	C	86662232	2	2	747	1	0	0	0	0	0	0	0	1	6134	1548	54	3		3	FZD4	11	86662232	Silent	SNP	T	TCGA-KO-8406-01A-11D-2310-10	19387367	86662232	48344284	45	43806											
SORL1	6653	ucsc.edu	37	11	121323057	121323057	+	Missense_Mutation	SNP	G	G	T			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr11:121323057G>T	ENST00000260197.7	+	1	146	c.17G>T	c.(16-18)aGc>aTc	p.S6I	RP11-730K11.1_ENST00000529160.1_RNA|RP11-730K11.1_ENST00000501964.1_RNA	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	6					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)		ACACGGAGCAGCAGGAGGGAG	0.697																																																0													12	11	11					11																	121323057		2182	4277	6459	SO:0001583	missense	6653			Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"Fibronectin type III domain containing"	11185	protein-coding gene	gene with protein product	"LDLR relative with 11 ligand-binding repeats"	602005	"chromosome 11 open reading frame 32", "sortilin-related receptor, L(DLR class) A repeats-containing"	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.17G>T	11.37:g.121323057G>T	ENSP00000260197:p.Ser6Ile		B2RNX7|Q92856	Missense_Mutation	SNP	ENST00000260197.7	37	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.086607	0.76642	.	.	ENSG00000137642	ENST00000260197	D	0.91686	-2.89	3.8	3.8	0.43715	.	0.313533	0.25148	N	0.032777	D	0.82903	0.5138	N	0.08118	0	0.80722	D	1	P	0.38565	0.637	B	0.38655	0.278	D	0.84642	0.0696	10	0.56958	D	0.05	.	11.0822	0.48066	0.0:0.0:1.0:0.0	.	6	Q92673	SORL_HUMAN	I	6	ENSP00000260197:S6I	ENSP00000260197:S6I	S	+	2	0	SORL1	120828267	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.867000	0.56047	1.985000	0.57927	0.442000	0.29010	AGC		0.697	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		T	121323057	G	T	121323057	3	4	747	1	0	0	0	0	1	0	0	0	14940	971	34	4	19	4	SORL1	11	121323057	Missense_Mutation	SNP	G	TCGA-KO-8406-01A-11D-2310-10	34660825	121323057	13683459	46	43807											
PZP	5858	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	12	9315213	9315213	+	Missense_Mutation	SNP	C	C	A			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr12:9315213C>A	ENST00000261336.2	-	22	2796	c.2768G>T	c.(2767-2769)aGt>aTt	p.S923I	PZP_ENST00000539983.1_5'UTR|PZP_ENST00000381997.2_Missense_Mutation_p.S709I	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	923					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						GGTCATAGAACTGAAAGTCTT	0.393																																					Melanoma(125;1402 1695 4685 34487 38571)											0													151	134	140					12																	9315213		2203	4300	6503	SO:0001583	missense	5858			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.2768G>T	12.37:g.9315213C>A	ENSP00000261336:p.Ser923Ile		A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	ENST00000261336.2	37	CCDS8600.1	.	.	.	.	.	.	.	.	.	.	C	14.83	2.653628	0.47362	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.38240	2.2;1.15	2.83	1.66	0.24008	.	0.337611	0.23351	U	0.049128	T	0.33556	0.0867	M	0.76838	2.35	0.09310	N	0.999999	B;P	0.37158	0.001;0.585	B;B	0.34652	0.0;0.187	T	0.33650	-0.9860	10	0.87932	D	0	.	4.962	0.14070	0.0:0.467:0.0:0.533	.	709;923	P20742-2;P20742	.;PZP_HUMAN	I	923;709	ENSP00000261336:S923I;ENSP00000371427:S709I	ENSP00000261336:S923I	S	-	2	0	PZP	9206480	0.505000	0.26131	0.129000	0.21949	0.530000	0.34684	-0.084000	0.11268	0.501000	0.28013	-0.483000	0.04790	AGT		0.393	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		A	9315213	C	A	9315213	3	1	747	1	0	0	0	0	1	0	0	0	12875	565	20	4	1740	4	PZP	12	9315213	Missense_Mutation	SNP	C	TCGA-KO-8406-01A-11D-2310-10		9315213	124536682	47	43808											
TAS2R31	259290	mdanderson.org	37	12	11183793	11183793	+	Missense_Mutation	SNP	G	G	C			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr12:11183793G>C	ENST00000390675.2	-	1	213	c.142C>G	c.(142-144)Ctc>Gtc	p.L48V	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	48					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						AGAGCAGTGAGAATCTGGTCA	0.378																																																0													73	77	76					12																	11183793		1984	4234	6218	SO:0001583	missense	259290			AX097748, AF494228	CCDS53747.1	12p13.2	2012-08-22				ENSG00000256436		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	19113	protein-coding gene	gene with protein product		612669	"taste receptor, type 2, member 44"	TAS2R44			Standard	NM_176885		Approved	T2R31, T2R53	uc001qzo.1	P59538		ENST00000390675.2:c.142C>G	12.37:g.11183793G>C	ENSP00000375093:p.Leu48Val		P59547|Q17R84|Q645X5	Missense_Mutation	SNP	ENST00000390675.2	37	CCDS53747.1	.	.	.	.	.	.	.	.	.	.	G	10.68	1.416943	0.25552	.	.	ENSG00000256436	ENST00000390675	T	0.01484	4.84	2.45	1.45	0.22620	.	.	.	.	.	T	0.07818	0.0196	M	0.94142	3.5	0.09310	N	1	P	0.41450	0.75	P	0.47827	0.558	T	0.05716	-1.0868	9	0.56958	D	0.05	.	6.1115	0.20104	0.0:0.0:0.6975:0.3025	.	48	P59538	T2R31_HUMAN	V	48	ENSP00000375093:L48V	ENSP00000375093:L48V	L	-	1	0	TAS2R31	11075060	0.077000	0.21312	0.006000	0.13384	0.092000	0.18411	0.787000	0.26858	0.299000	0.22661	0.194000	0.17425	CTC		0.378	TAS2R31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400233.1	NM_176885		C	11183793	G	C	11183793	3	2	747	1	0	0	0	0	1	0	0	0	15579	942	33	4	791	4	TAS2R31	12	11183793	Missense_Mutation	SNP	G	TCGA-KO-8406-01A-11D-2310-10	1868580	11183793	122668102	48	43809			3	110		2	2	17	N	G_A	3.927986e-05
TAS2R31	259290	mdanderson.org	37	12	11183809	11183809	+	Silent	SNP	A	A	G			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr12:11183809A>G	ENST00000390675.2	-	1	197	c.126T>C	c.(124-126)tcT>tcC	p.S42S	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	42					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						GGTCAGCAAAAGAGATCTTTT	0.388																																																0													68	71	70					12																	11183809		1988	4220	6208	SO:0001819	synonymous_variant	259290			AX097748, AF494228	CCDS53747.1	12p13.2	2012-08-22				ENSG00000256436		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	19113	protein-coding gene	gene with protein product		612669	"taste receptor, type 2, member 44"	TAS2R44			Standard	NM_176885		Approved	T2R31, T2R53	uc001qzo.1	P59538		ENST00000390675.2:c.126T>C	12.37:g.11183809A>G			P59547|Q17R84|Q645X5	Silent	SNP	ENST00000390675.2	37	CCDS53747.1																																																																																				0.388	TAS2R31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400233.1	NM_176885		G	11183809	A	G	11183809	2	3	747	1	0	0	0	0	0	0	0	1	15579	59	3	3		3	TAS2R31	12	11183809	Silent	SNP	A	TCGA-KO-8406-01A-11D-2310-10	16	11183809	122668086	49	43810			3	110		2	2	17	N	G_A	3.927986e-05
GNS	2799	broad.mit.edu	37	12	65152902	65152902	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr12:65152902A>G	ENST00000258145.3	-	1	325	c.155T>C	c.(154-156)cTc>cCc	p.L52P	RP11-629N8.3_ENST00000434563.3_RNA|snoU13_ENST00000458789.1_RNA|GNS_ENST00000542058.1_Missense_Mutation_p.L52P|GNS_ENST00000543646.1_Missense_Mutation_p.L52P	NM_002076.3	NP_002067.1	P15586	GNS_HUMAN	glucosamine (N-acetyl)-6-sulfatase	52					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)|sulfuric ester hydrolase activity (GO:0008484)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(4)	15	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)		GTCCGTGAGGAGCAGCACCAC	0.657																																																0													29	29	29					12																	65152902		2191	4282	6473	SO:0001583	missense	2799				CCDS8970.1	12q14	2010-05-04	2008-08-01		ENSG00000135677	ENSG00000135677	3.1.6.14		4422	protein-coding gene	gene with protein product	"Sanfilippo disease IIID", "N-acetylglucosamine-6-sulfatase"	607664					Standard	NM_002076		Approved		uc001ssg.4	P15586	OTTHUMG00000168819	ENST00000258145.3:c.155T>C	12.37:g.65152902A>G	ENSP00000258145:p.Leu52Pro		B4DYH8|Q53F05	Missense_Mutation	SNP	ENST00000258145.3	37	CCDS8970.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.980417	0.74474	.	.	ENSG00000135677	ENST00000258145;ENST00000543646;ENST00000542058	D;D;D	0.97041	-4.22;-4.22;-4.22	4.48	4.48	0.54585	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.131881	0.48286	D	0.000184	D	0.97216	0.9090	M	0.64997	1.995	0.54753	D	0.999982	D;D;P	0.55385	0.971;0.971;0.941	P;P;P	0.59761	0.646;0.807;0.863	D	0.96596	0.9441	9	.	.	.	-7.1383	11.5388	0.50655	1.0:0.0:0.0:0.0	.	52;52;52	B4DYH8;F6S8M0;P15586	.;.;GNS_HUMAN	P	52	ENSP00000258145:L52P;ENSP00000438497:L52P;ENSP00000444819:L52P	.	L	-	2	0	GNS	63439169	0.606000	0.26949	0.907000	0.35723	0.877000	0.50540	2.943000	0.49026	2.022000	0.59522	0.397000	0.26171	CTC		0.657	GNS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401195.2			G	65152902	A	G	65152902	3	3	747	1	0	0	0	0	1	0	0	0	6552	304	11	3	1559	3	GNS	12	65152902	Missense_Mutation	SNP	A	TCGA-KO-8406-01A-11D-2310-10	53969093	65152902	68698993	50	43811											
DCN	1634	broad.mit.edu	37	12	91550949	91550949	+	Silent	SNP	C	C	T	rs147765043		TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr12:91550949C>T	ENST00000052754.5	-	5	1056	c.555G>A	c.(553-555)ccG>ccA	p.P185P	DCN_ENST00000420120.2_Silent_p.P76P|DCN_ENST00000441303.2_Intron|DCN_ENST00000552962.1_Silent_p.P185P|DCN_ENST00000393155.1_Silent_p.P185P|DCN_ENST00000228329.5_Silent_p.P76P|DCN_ENST00000547568.2_Intron|DCN_ENST00000456569.2_Intron|DCN_ENST00000425043.1_Intron|DCN_ENST00000303320.3_Intron	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	185					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						AGCTCTTCAGCGGATTGGTGC	0.428																																																0													119	115	116					12																	91550949		2203	4300	6503	SO:0001819	synonymous_variant	1634			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.555G>A	12.37:g.91550949C>T			Q9P0Z0|Q9P0Z1|Q9Y5N8|Q9Y5N9	Silent	SNP	ENST00000052754.5	37	CCDS9039.1																																																																																				0.428	DCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406799.3	NM_133507		T	91550949	C	T	91550949	2	4	747	1	0	0	0	0	0	0	0	1	4299	755	27	1		1	DCN	12	91550949	Silent	SNP	C	TCGA-KO-8406-01A-11D-2310-10	26398047	91550949	42300946	51	43812											
TRAFD1	10906	broad.mit.edu	37	12	112578793	112578794	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	GA	GA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr12:112578793_112578794delGA	ENST00000257604.5	+	5	1025_1026	c.408_409delGA	c.(406-411)gggagafs	p.R137fs	TRAFD1_ENST00000412615.2_Frame_Shift_Del_p.R137fs	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	137					negative regulation of innate immune response (GO:0045824)|response to cytokine (GO:0034097)		metal ion binding (GO:0046872)			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						AAGTTTGTGGGAGAGAGGGGGA	0.48																																																0																																										SO:0001589	frameshift_variant	10906			AB007447	CCDS9160.1	12q24.13	2013-01-25			ENSG00000135148	ENSG00000135148			24808	protein-coding gene	gene with protein product		613197				12477932	Standard	NM_006700		Approved	FLN29	uc001ttp.3	O14545	OTTHUMG00000169640	ENST00000257604.5:c.408_409delGA	12.37:g.112578797_112578798delGA	ENSP00000257604:p.Arg137fs		A8K5L6|B4DI89	Frame_Shift_Del	DEL	ENST00000257604.5	37	CCDS9160.1																																																																																				0.48	TRAFD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405214.1	NM_006700		-	112578794	GA	-	112578793	7	5	747	1	0	1	0	1	0	0	0	0	16452	1161	41	0	422	0	TRAFD1	12	112578793	Frame_Shift_Del	DEL	GA	TCGA-KO-8406-01A-11D-2310-10	21027844	112578793	21273102	52	43813											
RNFT2	84900	mdanderson.org	37	12	117187907	117187907	+	Silent	SNP	T	T	C	rs111256849	byFrequency	TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr12:117187907T>C	ENST00000257575.4	+	4	578	c.345T>C	c.(343-345)caT>caC	p.H115H	RNFT2_ENST00000407967.3_Silent_p.H115H|RNFT2_ENST00000319176.7_Silent_p.H115H|RNFT2_ENST00000392549.2_Silent_p.H115H			Q96EX2	RNFT2_HUMAN	ring finger protein, transmembrane 2	115	His-rich.					integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		CCCACCACCATTTCCACCATG	0.746													C|||	1284	0.25639	0.4826	0.1326	5008	,	,		12011	0.1786		0.166	False		,,,				2504	0.2117															0								C	,	1295,2539		234,827,856	3	4	4		345,345	3.2	1	12	dbSNP_132	4	888,6786		67,754,3016	no	coding-synonymous,coding-synonymous	RNFT2	NM_001109903.1,NM_032814.3	,	301,1581,3872	CC,CT,TT		11.5715,33.7767,18.9694	,	115/445,115/421	117187907	2183,9325	1917	3837	5754	SO:0001819	synonymous_variant	84900			AK027533	CCDS9180.2, CCDS44987.1	12q24.22	2013-01-09	2008-02-26	2008-02-26	ENSG00000135119	ENSG00000135119		"RING-type (C3HC4) zinc fingers"	25905	protein-coding gene	gene with protein product			"transmembrane protein 118"	TMEM118		12477932	Standard	NM_032814		Approved	FLJ14627	uc009zwn.3	Q96EX2	OTTHUMG00000150882	ENST00000257575.4:c.345T>C	12.37:g.117187907T>C			E9PAM7|Q96SU5	Silent	SNP	ENST00000257575.4	37	CCDS44987.1																																																																																				0.746	RNFT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320417.1	NM_032814		C	117187907	T	C	117187907	2	2	747	1	0	0	0	0	0	0	0	1	13508	1490	52	3		3	RNFT2	12	117187907	Silent	SNP	T	TCGA-KO-8406-01A-11D-2310-10	4609114	117187907	16663988	53	43814											
HNF1A	6927	broad.mit.edu	37	12	121437368	121437369	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr12:121437368_121437369insC	ENST00000257555.6	+	9	1932_1933	c.1706_1707insC	c.(1705-1710)agccagfs	p.Q570fs	HNF1A_ENST00000541395.1_Frame_Shift_Ins_p.Q601fs|RP11-216P16.2_ENST00000606238.1_RNA|HNF1A_ENST00000544413.1_Frame_Shift_Ins_p.Q577fs			P20823	HNF1A_HUMAN	HNF1 homeobox A	570					glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|insulin secretion (GO:0030073)|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)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|renal glucose absorption (GO:0035623)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CACGTCCCCAGCCAGGACCCTG	0.688									Hepatic Adenoma, Familial Clustering of																																							0																																										SO:0001589	frameshift_variant	6927	Familial Cancer Database	incl. Maturity-Onset Diabetes of the Young type 3, MODY3	M57732	CCDS9209.1	12q24.31	2014-09-17	2007-08-24	2007-08-24	ENSG00000135100	ENSG00000135100		"Homeoboxes / HNF class"	11621	protein-coding gene	gene with protein product		142410	"transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor"	MODY3, TCF1		1535333, 7795649	Standard	NM_000545		Approved	HNF1, LFB1	uc001tzg.3	P20823	OTTHUMG00000151015	ENST00000257555.6:c.1708dupC	12.37:g.121437370_121437370dupC	ENSP00000257555:p.Gln570fs		A5Z2R8|E0YMJ5|E0YMK0|E0YMK1|E2I9R4|E2I9R5|F5H5U3|Q2M3H2|Q99861	Frame_Shift_Ins	INS	ENST00000257555.6	37	CCDS9209.1																																																																																				0.688	HNF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320957.5	NM_000545		C	121437369	-	C	121437368	7	5	747	1	0	1	1	0	0	0	0	0	7253	971	34	0	1740	0	HNF1A	12	121437368	Frame_Shift_Ins	INS	-	TCGA-KO-8406-01A-11D-2310-10	4249461	121437368	12414527	54	43815											
PSPC1	55269	mdanderson.org	37	13	20279800	20279800	+	Splice_Site	SNP	A	A	G	rs199978034		TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr13:20279800A>G	ENST00000338910.4	-	8	1546		c.e8+1			NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1						negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		ATGATACATTACCACTGCTCC	0.403																																																0													18	20	19					13																	20279800		1778	4021	5799	SO:0001630	splice_region_variant	55269			AK001817	CCDS41870.1	13q11	2013-02-12			ENSG00000121390	ENSG00000121390		"RNA binding motif (RRM) containing"	20320	protein-coding gene	gene with protein product		612408				11790299	Standard	NM_001042414		Approved	PSP1, FLJ10955	uc021rgx.1	Q8WXF1	OTTHUMG00000016502	ENST00000338910.4:c.1386+1T>C	13.37:g.20279800A>G			Q5JTQ3|Q8NCZ9|Q8WXE8|Q9NV36	Splice_Site	SNP	ENST00000338910.4	37	CCDS41870.1	.	.	.	.	.	.	.	.	.	.	A	19.67	3.870370	0.72065	.	.	ENSG00000121390	ENST00000338910;ENST00000422828	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1232	0.72460	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PSPC1	19177800	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.069000	0.89491	2.044000	0.60594	0.402000	0.26972	.		0.403	PSPC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044037.2		Intron	G	20279800	A	G	20279800	5	3	747	1	0	0	0	0	0	0	1	0	12721	405	14	3	191	3	PSPC1	13	20279800	Splice_Site	SNP	A	TCGA-KO-8406-01A-11D-2310-10		20279800	94890078	55	43816											
IPO5	3843	mdanderson.org	37	13	98670796	98670796	+	Missense_Mutation	SNP	A	A	T			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr13:98670796A>T	ENST00000490680.1	+	23	2739	c.2674A>T	c.(2674-2676)Ata>Tta	p.I892L	IPO5_ENST00000261574.5_Missense_Mutation_p.I910L|IPO5_ENST00000539640.1_Missense_Mutation_p.I767L			O00410	IPO5_HUMAN	importin 5	892					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						TGATGATGTCATAGAACACTG	0.403																																																0													156	145	149					13																	98670796		2203	4300	6503	SO:0001583	missense	3843			U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"Importins"	6402	protein-coding gene	gene with protein product		602008	"karyopherin (importin) beta 3", "RAN binding protein 5"	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.2674A>T	13.37:g.98670796A>T	ENSP00000418393:p.Ile892Leu		B4DZA0|O15257|Q5T578|Q86XC7	Missense_Mutation	SNP	ENST00000490680.1	37		.	.	.	.	.	.	.	.	.	.	A	16.62	3.172782	0.57584	.	.	ENSG00000065150	ENST00000261574;ENST00000357602;ENST00000490680;ENST00000539640	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	5.71	4.49	0.54785	.	0.138033	0.64402	D	0.000005	T	0.53206	0.1782	N	0.24115	0.695	0.44562	D	0.997528	B	0.17852	0.024	B	0.28916	0.096	T	0.45175	-0.9279	10	0.33940	T	0.23	-3.1146	10.5895	0.45302	0.8648:0.0:0.1352:0.0	.	910	O00410-3	.	L	910;892;892;767	ENSP00000261574:I910L;ENSP00000350219:I892L;ENSP00000418393:I892L;ENSP00000445126:I767L	ENSP00000261574:I910L	I	+	1	0	IPO5	97468797	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	1.739000	0.38217	0.954000	0.37851	0.528000	0.53228	ATA		0.403	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000354655.1	NM_002271		T	98670796	A	T	98670796	3	4	747	1	0	0	0	0	1	0	0	0	7798	217	8	5	2822	5	IPO5	13	98670796	Missense_Mutation	SNP	A	TCGA-KO-8406-01A-11D-2310-10	78390996	98670796	16499082	56	43817											
C14orf4	64207	mdanderson.org	37	14	77493794	77493794	+	Silent	SNP	T	T	C	rs377151545|rs28718623|rs71125518	byFrequency	TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr14:77493794T>C	ENST00000238647.3	-	1	1240	c.342A>G	c.(340-342)caA>caG	p.Q114Q		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	114	Poly-Gln.				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						gctgctgctgttgctgctgct	0.697													T|||	1146	0.228834	0.1649	0.1758	5008	,	,		5976	0.2659		0.2614	False		,,,				2504	0.2812															0								-		160,2330		6,148,1091	2	2	2		342	0.6	0	14	dbSNP_125	2	324,4012		7,310,1851	no	coding-synonymous	IRF2BPL	NM_024496.2		13,458,2942	CC,CT,TT		7.4723,6.4257,7.0905		114/797	77493794	484,6342	1245	2168	3413	SO:0001819	synonymous_variant	64207			AJ277365	CCDS9854.1	14q24.3	2011-02-23	2011-02-23	2011-02-23	ENSG00000119669	ENSG00000119669			14282	protein-coding gene	gene with protein product	"enhanced at puberty 1"	611720	"chromosome 14 open reading frame 4"	C14orf4		11095982, 17627301	Standard	NM_024496		Approved	EAP1, KIAA1865	uc001xsy.4	Q9H1B7		ENST00000238647.3:c.342A>G	14.37:g.77493794T>C			Q8NDQ2|Q96JG2|Q9H3I7	Silent	SNP	ENST00000238647.3	37	CCDS9854.1																																																																																				0.697	IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414298.1	NM_024496		C	77493794	T	C	77493794	2	2	747	1	0	0	0	0	0	0	0	1	1775	1722	60	3		3	C14orf4	14	77493794	Silent	SNP	T	TCGA-KO-8406-01A-11D-2310-10		77493794	29855746	57	43818											
C14orf153	84334	mdanderson.org	37	14	104029449	104029449	+	Silent	SNP	G	G	A	rs2274267	byFrequency	TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr14:104029449G>A	ENST00000409074.2	+	1	151	c.150G>A	c.(148-150)acG>acA	p.T50T	BAG5_ENST00000445922.2_5'Flank|APOPT1_ENST00000556253.2_Silent_p.T37T|BAG5_ENST00000299204.4_5'Flank|RP11-894P9.2_ENST00000556332.1_RNA|RP11-73M18.2_ENST00000472726.2_Silent_p.T50T|BAG5_ENST00000337322.4_5'Flank|APOPT1_ENST00000247618.4_Silent_p.T37T	NM_032374.3	NP_115750.2	Q96IL0	APOP1_HUMAN	apoptogenic 1, mitochondrial	50					intrinsic apoptotic signaling pathway (GO:0097193)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)	mitochondrion (GO:0005739)											GCAGGGATACGGCGCCCAGCG	0.716													G|||	1108	0.221246	0.1074	0.3343	5008	,	,		12360	0.3512		0.2624	False		,,,				2504	0.1186															0								G		557,3355		49,459,1448	4	6	5		150	-0.9	0.2	14	dbSNP_100	5	2012,5966		304,1404,2281	no	coding-synonymous	APOPT1	NM_032374.3		353,1863,3729	AA,AG,GG		25.2194,14.2382,21.6064		50/207	104029449	2569,9321	1956	3989	5945	SO:0001819	synonymous_variant	84334			BC007412	CCDS9983.2	14q32.33	2012-06-28	2012-06-28	2011-09-07	ENSG00000256053	ENSG00000256053			20492	protein-coding gene	gene with protein product	"apoptogenic protein 1"		"chromosome 14 open reading frame 153", "apoptogenic 1"	C14orf153		16782708, 18977203	Standard	NM_032374		Approved	MGC2562, APOP-1		Q96IL0	OTTHUMG00000153929	ENST00000409074.2:c.150G>A	14.37:g.104029449G>A			Q53G28	Silent	SNP	ENST00000409074.2	37	CCDS9983.2	553	0.2532051282051282	49	0.09959349593495935	118	0.3259668508287293	189	0.3304195804195804	197	0.2598944591029024	G	6.245	0.413378	0.11812	0.142382	0.252194	ENSG00000256053	ENST00000440963	.	.	.	3.37	-0.865	0.10662	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.53005	P	3.2999999999949736E-5	.	.	.	.	.	.	T	0.40213	-0.9575	4	0.09843	T	0.71	.	0.9102	0.01293	0.2249:0.1788:0.4131:0.1831	rs2274267;rs17095256;rs28362582	.	.	.	S	50	.	ENSP00000388067:G50S	G	+	1	0	C14orf153	103099202	0.296000	0.24398	0.214000	0.23707	0.083000	0.17756	-0.397000	0.07269	-0.499000	0.06623	-0.140000	0.14226	GGC		0.716	APOPT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333060.2	NM_032374		A	104029449	G	A	104029449	2	1	747	1	0	0	0	0	0	0	0	1	1755	1103	39	1		1	C14orf153	14	104029449	Silent	SNP	G	TCGA-KO-8406-01A-11D-2310-10	26535655	104029449	3320091	58	43819											
EPB42	2038	broad.mit.edu	37	15	43501531	43501531	+	Missense_Mutation	SNP	C	C	A			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr15:43501531C>A	ENST00000441366.2	-	6	998	c.773G>T	c.(772-774)gGc>gTc	p.G258V	EPB42_ENST00000300215.3_Missense_Mutation_p.G288V|EPB42_ENST00000540029.1_Missense_Mutation_p.G180V|EPB42_ENST00000563128.1_5'Flank	NM_000119.2|NM_001114134.1	NP_000110.2|NP_001107606.1	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	258					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)		TCGGCCTCGGCCGGTGAGCCA	0.677																																																0													46	44	45					15																	43501531		2203	4299	6502	SO:0001583	missense	2038			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.773G>T	15.37:g.43501531C>A	ENSP00000396616:p.Gly258Val		Q4KKX0|Q4VB97	Missense_Mutation	SNP	ENST00000441366.2	37	CCDS45249.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.528930	0.27387	.	.	ENSG00000166947	ENST00000300215;ENST00000540029;ENST00000441366;ENST00000397027	T;T;T	0.52295	0.67;0.67;0.67	4.69	4.69	0.59074	Transglutaminase-like (1);	0.481828	0.23587	N	0.046600	T	0.62925	0.2468	M	0.78049	2.395	0.22511	N	0.999034	D;D;D;D	0.89917	1.0;0.998;0.997;0.998	D;D;P;D	0.77004	0.989;0.926;0.878;0.926	T	0.54840	-0.8233	10	0.17369	T	0.5	-22.3396	8.9578	0.35829	0.0:0.9008:0.0:0.0992	.	180;258;288;258	F5H563;B7Z4C3;P16452-2;P16452	.;.;.;EPB42_HUMAN	V	288;180;258;258	ENSP00000300215:G288V;ENSP00000444699:G180V;ENSP00000396616:G258V	ENSP00000300215:G288V	G	-	2	0	EPB42	41288823	0.000000	0.05858	0.896000	0.35187	0.071000	0.16799	0.094000	0.15107	2.568000	0.86640	0.655000	0.94253	GGC		0.677	EPB42-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432219.1	NM_000119		A	43501531	C	A	43501531	3	1	747	1	0	0	0	0	1	0	0	0	5160	739	26	4	1334	4	EPB42	15	43501531	Missense_Mutation	SNP	C	TCGA-KO-8406-01A-11D-2310-10		43501531	59029861	59	43820											
C16orf54	283897	hgsc.bcm.edu	37	16	29755786	29755787	+	Frame_Shift_Ins	INS	-	-	G	rs551608693		TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr16:29755786_29755787insG	ENST00000329410.3	-	2	581_582	c.486_487insC	c.(484-489)cccgccfs	p.A163fs	AC009133.17_ENST00000565600.1_RNA	NM_175900.3	NP_787096.2	Q6UWD8	CP054_HUMAN	chromosome 16 open reading frame 54	163						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|lung(2)|prostate(1)|urinary_tract(1)	6						AGGCCTGTGGCGGGGGGCCTCC	0.718																																																0																																										SO:0001589	frameshift_variant	283897			AK093000	CCDS10652.1	16p11.2	2012-10-10		2005-08-09	ENSG00000185905	ENSG00000185905			26649	protein-coding gene	gene with protein product						12975309	Standard	NM_175900		Approved	FLJ35681	uc002dtp.2	Q6UWD8	OTTHUMG00000132116	ENST00000329410.3:c.487dupC	16.37:g.29755792_29755792dupG	ENSP00000327506:p.Ala163fs		A6NJR6|Q8NAB0	Frame_Shift_Ins	INS	ENST00000329410.3	37	CCDS10652.1																																																																																				0.718	C16orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255158.1	NM_175900		G	29755787	-	G	29755786	7	5	747	1	0	1	1	0	0	0	0	0	1821	768	27	0	191	0	C16orf54	16	29755786	Frame_Shift_Ins	INS	-	TCGA-KO-8406-01A-11D-2310-10		29755786	60598967	60	43821											
CNGB1	1258	broad.mit.edu	37	16	57984389	57984389	+	Silent	SNP	T	T	C			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr16:57984389T>C	ENST00000251102.8	-	13	990	c.930A>G	c.(928-930)gaA>gaG	p.E310E	CNGB1_ENST00000564448.1_Silent_p.E304E	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	310					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						CCCAGGGCGGTTCAACCTCCT	0.552																																					Colon(156;1293 1853 16336 28962 38659)											0													92	94	94					16																	57984389		2015	4176	6191	SO:0001819	synonymous_variant	1258			AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2151	protein-coding gene	gene with protein product	"glutamic acid-rich protein"	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.930A>G	16.37:g.57984389T>C			H3BN09|O43636|Q13059|Q14029|Q9UMG2	Silent	SNP	ENST00000251102.8	37	CCDS42169.1																																																																																				0.552	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297		C	57984389	T	C	57984389	2	2	747	1	0	0	0	0	0	0	0	1	3602	1722	60	3		3	CNGB1	16	57984389	Silent	SNP	T	TCGA-KO-8406-01A-11D-2310-10	28228603	57984389	32370364	61	43822											
AP2B1	163	broad.mit.edu	37	17	34009754	34009754	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr17:34009754C>T	ENST00000262325.7	+	17	2876	c.2323C>T	c.(2323-2325)Cca>Tca	p.P775S	AP2B1_ENST00000312678.8_Missense_Mutation_p.P789S|AP2B1_ENST00000592545.1_Missense_Mutation_p.P751S|AP2B1_ENST00000538556.1_Missense_Mutation_p.P718S|AP2B1_ENST00000589344.1_Missense_Mutation_p.P789S|CTC-507E2.1_ENST00000588135.1_RNA|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000537622.2_Missense_Mutation_p.P789S	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	775					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	clathrin binding (GO:0030276)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		CATCCATACACCACTGATGCC	0.483																																																0													113	92	99					17																	34009754		2203	4300	6503	SO:0001583	missense	163			M34175	CCDS32621.1, CCDS32622.1	17q11.2-q12	2010-06-18			ENSG00000006125	ENSG00000006125			563	protein-coding gene	gene with protein product		601025		ADTB2, CLAPB1		8262066, 8595912	Standard	XM_005257937		Approved		uc002hjq.3	P63010		ENST00000262325.7:c.2323C>T	17.37:g.34009754C>T	ENSP00000262325:p.Pro775Ser		A6NJP3|P21851|Q7Z451|Q96J19	Missense_Mutation	SNP	ENST00000262325.7	37	CCDS32622.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.039723	0.75732	.	.	ENSG00000006125	ENST00000262325;ENST00000312678;ENST00000538556;ENST00000537622;ENST00000545922	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.45	5.45	0.79879	Coatomer/clathrin adaptor appendage, Ig-like subdomain (1);Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain (2);Clathrin adaptor, beta-adaptin, appendage, Ig-like subdomain (1);	0.000000	0.85682	D	0.000000	T	0.69305	0.3096	M	0.85859	2.78	0.80722	D	1	D;P;B;P	0.76494	0.999;0.819;0.363;0.67	D;P;B;B	0.75484	0.986;0.593;0.275;0.179	T	0.72663	-0.4225	10	0.52906	T	0.07	-7.6667	18.2747	0.90078	0.0:1.0:0.0:0.0	.	526;751;775;789	F5GYG9;B4DWG4;P63010;P63010-2	.;.;AP2B1_HUMAN;.	S	775;789;718;789;526	ENSP00000262325:P775S;ENSP00000314414:P789S;ENSP00000440563:P718S;ENSP00000437413:P789S	ENSP00000262325:P775S	P	+	1	0	AP2B1	31033867	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.662000	0.83803	2.571000	0.86741	0.650000	0.86243	CCA		0.483	AP2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448969.1			T	34009754	C	T	34009754	3	4	747	1	0	0	0	0	1	0	0	0	741	507	18	2	2431	2	AP2B1	17	34009754	Missense_Mutation	SNP	C	TCGA-KO-8406-01A-11D-2310-10		34009754	47185456	62	43823											
KRT40	125115	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	17	39140079	39140079	+	Splice_Site	SNP	C	C	A			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr17:39140079C>A	ENST00000398486.2	-	3	607	c.447G>T	c.(445-447)aaG>aaT	p.K149N	KRT40_ENST00000377755.4_Splice_Site_p.K149N	NM_182497.3	NP_872303.2	Q6A162	K1C40_HUMAN	keratin 40	149	Coil 1B.|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)				GGACACAGACCTTTTGTTGGA	0.453																																																0													156	146	149					17																	39140079		2083	4229	6312	SO:0001630	splice_region_variant	125115			AK093919	CCDS42320.1	17q21.2	2013-01-16			ENSG00000204889	ENSG00000204889		"-", "Intermediate filaments type I, keratins (acidic)"	26707	protein-coding gene	gene with protein product						16831889	Standard	NM_182497		Approved	FLJ36600, KA36	uc010cxh.1	Q6A162	OTTHUMG00000133596	ENST00000398486.2:c.447+1G>T	17.37:g.39140079C>A			Q6IFU5	Missense_Mutation	SNP	ENST00000398486.2	37	CCDS42320.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.960620	0.53400	.	.	ENSG00000204889	ENST00000377755;ENST00000398486	D;D	0.89270	-2.49;-2.49	4.77	4.77	0.60923	Filament (1);	0.000000	0.35349	N	0.003279	D	0.95357	0.8493	M	0.91090	3.175	0.44508	D	0.997452	D	0.89917	1.0	D	0.80764	0.994	D	0.95890	0.8906	9	.	.	.	.	15.4557	0.75311	0.0:1.0:0.0:0.0	.	149	Q6A162	K1C40_HUMAN	N	149	ENSP00000366984:K149N;ENSP00000381500:K149N	.	K	-	3	2	KRT40	36393605	1.000000	0.71417	1.000000	0.80357	0.280000	0.26924	5.511000	0.67024	2.634000	0.89283	0.591000	0.81541	AAG		0.453	KRT40-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257701.3	NM_182497	Missense_Mutation	A	39140079	C	A	39140079	5	1	747	1	0	0	0	0	0	0	1	0	8480	695	24	4	876	4	KRT40	17	39140079	Splice_Site	SNP	C	TCGA-KO-8406-01A-11D-2310-10	5130325	39140079	42055131	63	43824											
MAPT	4137	broad.mit.edu	37	17	44096020	44096020	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr17:44096020A>G	ENST00000571987.1	+	12	1985	c.1985A>G	c.(1984-1986)gAc>gGc	p.D662G	MAPT_ENST00000431008.3_Missense_Mutation_p.D314G|MAPT_ENST00000344290.5_Missense_Mutation_p.D680G|MAPT_ENST00000351559.5_Missense_Mutation_p.D345G|MAPT_ENST00000570299.1_3'UTR|MAPT_ENST00000446361.3_Missense_Mutation_p.D287G|MAPT_ENST00000576518.1_Missense_Mutation_p.D245G|MAPT_ENST00000574436.1_Missense_Mutation_p.D345G|MAPT_ENST00000420682.2_Missense_Mutation_p.D316G|MAPT_ENST00000340799.5_Missense_Mutation_p.D316G|MAPT_ENST00000415613.2_Missense_Mutation_p.D680G|MAPT_ENST00000334239.8_Missense_Mutation_p.D256G|MAPT_ENST00000262410.5_Missense_Mutation_p.D662G|MAPT_ENST00000535772.1_Missense_Mutation_p.D314G|MAPT_ENST00000347967.5_Missense_Mutation_p.D220G			P10636	TAU_HUMAN	microtubule-associated protein tau	662					adult walking behavior (GO:0007628)|apoptotic process (GO:0006915)|axon cargo transport (GO:0008088)|axon extension (GO:0048675)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|generation of neurons (GO:0048699)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of microtubule polymerization (GO:0031116)|regulation of autophagy (GO:0010506)|regulation of microtubule polymerization (GO:0031113)|regulation of microtubule-based movement (GO:0060632)	axon (GO:0030424)|axoneme (GO:0005930)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|growth cone (GO:0030426)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nuclear periphery (GO:0034399)|plasma membrane (GO:0005886)|tubulin complex (GO:0045298)	apolipoprotein binding (GO:0034185)|enzyme binding (GO:0019899)|lipoprotein particle binding (GO:0071813)|microtubule binding (GO:0008017)|SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)			Docetaxel(DB01248)|Paclitaxel(DB01229)	GAGAAGCTTGACTTCAAGGAC	0.488																																																0													205	195	198					17																	44096020		2203	4300	6503	SO:0001583	missense	4137			J03778	CCDS11499.1, CCDS11500.1, CCDS11501.1, CCDS11502.1, CCDS45715.1, CCDS45716.1, CCDS56033.1	17q21	2014-09-17			ENSG00000186868	ENSG00000186868			6893	protein-coding gene	gene with protein product	"G protein beta1/gamma2 subunit-interacting factor 1", "microtubule-associated protein tau, isoform 4", "protein phosphatase 1, regulatory subunit 103"	157140		DDPAC, MAPTL		7936241, 3131773	Standard	NM_001123067		Approved	MTBT1, tau, PPND, FTDP-17, TAU, MSTD, MTBT2, FLJ31424, MGC138549, PPP1R103	uc010dau.3	P10636	OTTHUMG00000168833	ENST00000571987.1:c.1985A>G	17.37:g.44096020A>G	ENSP00000458742:p.Asp662Gly		P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	Missense_Mutation	SNP	ENST00000571987.1	37	CCDS11501.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.380372	0.82682	.	.	ENSG00000186868	ENST00000344290;ENST00000262410;ENST00000351559;ENST00000340799;ENST00000535772;ENST00000347967;ENST00000354326;ENST00000446361;ENST00000334239;ENST00000420682;ENST00000415613;ENST00000431008	D;D;D;D;D;D;D;D;D	0.98550	-4.99;-4.99;-4.99;-4.99;-4.99;-4.99;-4.99;-4.99;-4.99	5.02	5.02	0.67125	.	0.000000	0.44902	D	0.000415	D	0.98760	0.9583	M	0.82630	2.6	0.80722	D	1	B;P;P;P;B;D;D	0.63880	0.243;0.856;0.591;0.591;0.321;0.993;0.976	B;B;B;B;B;P;D	0.65874	0.366;0.341;0.312;0.406;0.281;0.879;0.939	D	0.99686	1.1000	10	0.87932	D	0	-24.0164	13.8617	0.63564	1.0:0.0:0.0:0.0	.	680;316;263;256;287;345;662	P10636-9;P10636-7;F8WAB2;P10636-2;P10636-6;P10636-8;P10636	.;.;.;.;.;.;TAU_HUMAN	G	680;662;345;316;314;220;263;256;287;316;680;168	ENSP00000340820:D680G;ENSP00000262410:D662G;ENSP00000303214:D345G;ENSP00000340438:D316G;ENSP00000443028:D314G;ENSP00000302706:D220G;ENSP00000408975:D256G;ENSP00000413056:D316G;ENSP00000410838:D680G	ENSP00000262410:D662G	D	+	2	0	MAPT	41451867	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.339000	0.96797	2.013000	0.59113	0.459000	0.35465	GAC		0.488	MAPT-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000440133.1	NM_016835		G	44096020	A	G	44096020	3	3	747	1	0	0	0	0	1	0	0	0	9299	275	10	3	2089	3	MAPT	17	44096020	Missense_Mutation	SNP	A	TCGA-KO-8406-01A-11D-2310-10	4955941	44096020	37099190	64	43825											
PDCD2L	84306	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	34895578	34895578	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr19:34895578C>T	ENST00000246535.3	+	2	180	c.133C>T	c.(133-135)Ccc>Tcc	p.P45S	RP11-618P17.4_ENST00000606020.1_Missense_Mutation_p.P40S|PDCD2L_ENST00000587065.2_5'Flank	NM_032346.1	NP_115722.1	Q9BRP1	PDD2L_HUMAN	programmed cell death 2-like	45					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			CGTGGCTGCGCCCAGGCCCGT	0.692																																																0													22	23	23					19																	34895578		2199	4292	6491	SO:0001583	missense	84306			BC006146	CCDS12438.1	19q13.11	2008-02-05				ENSG00000126249			28194	protein-coding gene	gene with protein product		615661				16311922	Standard	NM_032346		Approved	MGC13096	uc002nvj.3	Q9BRP1		ENST00000246535.3:c.133C>T	19.37:g.34895578C>T	ENSP00000246535:p.Pro45Ser			Missense_Mutation	SNP	ENST00000246535.3	37	CCDS12438.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.996698	0.54147	.	.	ENSG00000126249	ENST00000246535	.	.	.	4.41	3.34	0.38264	.	0.264241	0.37393	N	0.002104	T	0.33381	0.0861	L	0.58969	1.84	0.09310	N	1	P	0.35272	0.493	B	0.29785	0.107	T	0.25222	-1.0138	9	0.46703	T	0.11	-16.4667	7.2931	0.26376	0.1937:0.6187:0.1876:0.0	.	45	Q9BRP1	PDD2L_HUMAN	S	45	.	ENSP00000246535:P45S	P	+	1	0	PDCD2L	39587418	0.000000	0.05858	0.032000	0.17829	0.849000	0.48306	0.577000	0.23758	1.007000	0.39238	0.313000	0.20887	CCC		0.692	PDCD2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459251.3	NM_032346		T	34895578	C	T	34895578	3	4	747	1	0	0	0	0	1	0	0	0	11622	739	26	2	139	2	PDCD2L	19	34895578	Missense_Mutation	SNP	C	TCGA-KO-8406-01A-11D-2310-10		34895578	24233405	65	43826											
MYH14	79784	mdanderson.org	37	19	50713655	50713655	+	Silent	SNP	G	G	C	rs8106196	byFrequency	TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr19:50713655G>C	ENST00000596571.1	+	1	33	c.33G>C	c.(31-33)cgG>cgC	p.R11R	MYH14_ENST00000440075.2_Silent_p.R11R|MYH14_ENST00000598205.1_Silent_p.R11R|MYH14_ENST00000376970.2_Silent_p.R11R|MYH14_ENST00000601313.1_Silent_p.R11R|MYH14_ENST00000425460.1_Silent_p.R11R|MYH14_ENST00000262269.8_Silent_p.R11R			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	11					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)		TGCCCGGGCGGAAGGCGCCCC	0.751													G|||	155	0.0309505	0.0651	0.0303	5008	,	,		8792	0.0		0.0338	False		,,,				2504	0.0143															0								G	,,	124,2870		1,122,1374	4	5	4		33,33,33	2	1	19	dbSNP_116	4	171,6701		2,167,3267	no	coding-synonymous,coding-synonymous,coding-synonymous	MYH14	NM_001077186.1,NM_001145809.1,NM_024729.3	,,	3,289,4641	CC,CG,GG		2.4884,4.1416,2.9901	,,	11/2004,11/2037,11/1996	50713655	295,9571	1497	3436	4933	SO:0001819	synonymous_variant	79784			AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"Myosins / Myosin superfamily : Class II"	23212	protein-coding gene	gene with protein product		608568	"myosin, heavy polypeptide 14", "myosin, heavy chain 14"	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.33G>C	19.37:g.50713655G>C			B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Silent	SNP	ENST00000596571.1	37	CCDS59411.1																																																																																				0.751	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		C	50713655	G	C	50713655	2	2	747	1	0	0	0	0	0	0	0	1	10035	1161	41	4		4	MYH14	19	50713655	Silent	SNP	G	TCGA-KO-8406-01A-11D-2310-10	15818077	50713655	8415328	66	43827											
SPIB	6689	broad.mit.edu	37	19	50931537	50931537	+	Missense_Mutation	SNP	C	C	A			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr19:50931537C>A	ENST00000595883.1	+	6	758	c.733C>A	c.(733-735)Cgc>Agc	p.R245S	CTD-2545M3.6_ENST00000599632.1_Missense_Mutation_p.A379E|SPIB_ENST00000596074.1_3'UTR|SPIB_ENST00000270632.7_3'UTR|SPIB_ENST00000439922.2_Missense_Mutation_p.R154S	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)	245					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)		CAAGGTCAAGCGCAAGCTCAC	0.682																																																0													24	18	20					19																	50931537		2120	4121	6241	SO:0001583	missense	6689				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.733C>A	19.37:g.50931537C>A	ENSP00000471921:p.Arg245Ser		A8K9C9|B4DUG6|Q15359	Missense_Mutation	SNP	ENST00000595883.1	37	CCDS33080.1	.	.	.	.	.	.	.	.	.	.	.	25.3	4.625445	0.87560	.	.	ENSG00000142539	ENST00000270632;ENST00000439922	T	0.23552	1.9	4.61	3.49	0.39957	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.176247	0.26560	N	0.023682	T	0.35068	0.0919	L	0.39633	1.23	0.41749	D	0.989658	D;D	0.61697	0.99;0.99	P;P	0.61800	0.859;0.894	T	0.11372	-1.0590	10	0.87932	D	0	-0.074	10.1039	0.42521	0.3729:0.6271:0.0:0.0	.	154;245	B4DUG6;Q01892	.;SPIB_HUMAN	S	245;154	ENSP00000391877:R154S	ENSP00000270632:R245S	R	+	1	0	SPIB	55623349	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.306000	0.65756	2.267000	0.75376	0.561000	0.74099	CGC		0.682	SPIB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464744.1	NM_003121		A	50931537	C	A	50931537	3	1	747	1	0	0	0	0	1	0	0	0	15055	768	27	4	755	4	SPIB	19	50931537	Missense_Mutation	SNP	C	TCGA-KO-8406-01A-11D-2310-10	217882	50931537	8197446	67	43828											
GP6	51206	mdanderson.org	37	19	55525596	55525596	+	3'UTR	SNP	T	T	C	rs1654412	byFrequency	TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr19:55525596T>C	ENST00000417454.1	-	0	1740				GP6_ENST00000333884.2_3'UTR|CTC-550B14.7_ENST00000593060.1_RNA|GP6_ENST00000310373.3_Missense_Mutation_p.R573G|CTC-550B14.7_ENST00000586845.1_RNA	NM_016363.4	NP_057447	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet)						blood coagulation (GO:0007596)|enzyme linked receptor protein signaling pathway (GO:0007167)|leukocyte migration (GO:0050900)|platelet activation (GO:0030168)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	collagen binding (GO:0005518)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		ctcagccccctgagttgctgg	0.522													T|||	3589	0.716653	0.5	0.8228	5008	,	,		16885	0.8075		0.8459	False		,,,				2504	0.7076															0								T	GLY/ARG,	2026,1786		560,906,440	10	9	9		1717,	-0.5	0	19	dbSNP_89	9	6725,1383		2826,1073,155	no	missense,utr-3	GP6	NM_001083899.1,NM_016363.4	125,	3386,1979,595	CC,CT,TT		17.0572,46.852,26.5856	possibly-damaging,	573/621,	55525596	8751,3169	1906	4054	5960	SO:0001624	3_prime_UTR_variant	51206			AB035073	CCDS42626.1, CCDS46184.1, CCDS58678.1	19q13.4	2013-01-29			ENSG00000088053	ENSG00000088053		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14388	protein-coding gene	gene with protein product		605546				11027634	Standard	NM_001083899		Approved	GPVI	uc002qil.3	Q9HCN6	OTTHUMG00000159709	ENST00000417454.1:c.*693A>G	19.37:g.55525596T>C			Q9HCN7|Q9UIF2	Missense_Mutation	SNP	ENST00000417454.1	37	CCDS46184.1	1670	0.7646520146520146	264	0.5365853658536586	305	0.8425414364640884	467	0.8164335664335665	634	0.8364116094986808	T	6.398	0.441597	0.12164	0.53148	0.829428	ENSG00000088053	ENST00000310373	T	0.37915	1.17	0.235	-0.47	0.12131	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	P	0.37500	0.597	B	0.39119	0.291	T	0.44817	-0.9303	6	0.02654	T	1	.	.	.	.	rs1654412	573	Q9HCN6-3	.	G	573	ENSP00000308782:R573G	ENSP00000308782:R573G	R	-	1	2	GP6	60217408	0.009000	0.17119	0.009000	0.14445	0.009000	0.06853	-0.829000	0.04415	-0.912000	0.03837	-0.940000	0.02684	AGG		0.522	GP6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357006.1			C	55525596	T	C	55525596	1	2	747	0	1	0	0	0	0	0	0	0	6586	1579	55	3		3	GP6	19	55525596	3'UTR	SNP	T	TCGA-KO-8406-01A-11D-2310-10	4594059	55525596	3603387	68	43829											
SIRPB1	10326	mdanderson.org	37	20	1559300	1559300	+	Missense_Mutation	SNP	T	T	G	rs202017659	byFrequency	TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr20:1559300T>G	ENST00000381605.4	-	2	181	c.117A>C	c.(115-117)gaA>gaC	p.E39D	RP4-576H24.4_ENST00000564763.1_Missense_Mutation_p.E39D|SIRPB1_ENST00000262929.5_Missense_Mutation_p.E38D|SIRPB1_ENST00000381603.3_Missense_Mutation_p.E39D	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	39	Ig-like V-type.				cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						ATACGGACTTTTCAGGCTGAA	0.532													t|||	53	0.0105831	0.0061	0.0101	5008	,	,		16142	0.0089		0.0119	False		,,,				2504	0.0174															0													87	81	83					20																	1559300		2198	4243	6441	SO:0001583	missense	10326			Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.117A>C	20.37:g.1559300T>G	ENSP00000371018:p.Glu39Asp		A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	ENST00000381605.4	37	CCDS13019.1	.	.	.	.	.	.	.	.	.	.	.	4.035	0.003997	0.07866	.	.	ENSG00000101307	ENST00000381605;ENST00000381603;ENST00000262929	T;T;T	0.65732	-0.17;-0.17;-0.17	2.36	-4.72	0.03269	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.862007	0.10312	N	0.689832	T	0.43277	0.1240	L	0.27053	0.805	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.12837	0.008;0.005	T	0.17167	-1.0378	10	0.23302	T	0.38	.	9.5019	0.39022	0.0:0.3277:0.5576:0.1147	.	39;39	O00241;O00241-2	SIRB1_HUMAN;.	D	39;39;38	ENSP00000371018:E39D;ENSP00000371016:E39D;ENSP00000262929:E38D	ENSP00000262929:E38D	E	-	3	2	SIRPB1	1507300	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.343000	0.02642	-4.273000	0.00060	-4.604000	0.00004	GAA		0.532	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		G	1559300	T	G	1559300	3	3	747	1	0	0	0	0	1	0	0	0	14339	1838	64	5	1095	5	SIRPB1	20	1559300	Missense_Mutation	SNP	T	TCGA-KO-8406-01A-11D-2310-10		1559300	61466220	69	43830											
DSTN	11034	mdanderson.org	37	20	17581509	17581509	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr20:17581509A>G	ENST00000246069.7	+	2	476	c.130A>G	c.(130-132)Aaa>Gaa	p.K44E	DSTN_ENST00000474024.1_Missense_Mutation_p.K27E	NM_006870.3	NP_006861.1	P60981	DEST_HUMAN	destrin (actin depolymerizing factor)	44	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						CAGTGCAGACAAAAAGTGCAT	0.383																																																0													118	111	113					20																	17581509		2203	4300	6503	SO:0001583	missense	11034			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.130A>G	20.37:g.17581509A>G	ENSP00000246069:p.Lys44Glu		B2R6N2|B4DYA6|P18282|Q5W166|Q6IAW2	Missense_Mutation	SNP	ENST00000246069.7	37	CCDS13127.1	.	.	.	.	.	.	.	.	.	.	A	14.47	2.543878	0.45280	.	.	ENSG00000125868	ENST00000246069;ENST00000543261	T;T	0.38077	1.16;1.16	5.65	5.65	0.86999	Actin-binding, cofilin/tropomyosin type (3);	0.178567	0.52532	D	0.000069	T	0.31295	0.0792	L	0.31294	0.92	0.53005	D	0.999965	B	0.17852	0.024	B	0.25506	0.061	T	0.06625	-1.0816	10	0.49607	T	0.09	-19.5102	15.0613	0.71955	1.0:0.0:0.0:0.0	.	44	P60981	DEST_HUMAN	E	44;27	ENSP00000246069:K44E;ENSP00000444808:K27E	ENSP00000246069:K44E	K	+	1	0	DSTN	17529509	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.053000	0.57427	2.166000	0.68216	0.460000	0.39030	AAA		0.383	DSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078131.6	NM_001011546		G	17581509	A	G	17581509	3	3	747	1	0	0	0	0	1	0	0	0	4786	131	5	3	136	3	DSTN	20	17581509	Missense_Mutation	SNP	A	TCGA-KO-8406-01A-11D-2310-10	16022209	17581509	45444011	70	43831											
PRIC285	85441	broad.mit.edu	37	20	62200278	62200278	+	Missense_Mutation	SNP	G	G	A	rs199977542	byFrequency	TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr20:62200278G>A	ENST00000467148.1	-	5	1232	c.1163C>T	c.(1162-1164)cCg>cTg	p.P388L	HELZ2_ENST00000479540.1_5'Flank|HELZ2_ENST00000427522.2_5'Flank	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	388					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)										CAGTGCTCCCGGAGGCGCGAA	0.677													G|||	2	0.000399361	0.0	0.0	5008	,	,		17049	0.001		0.0	False		,,,				2504	0.001															0													47	47	47					20																	62200278		2180	4275	6455	SO:0001583	missense	85441			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.1163C>T	20.37:g.62200278G>A	ENSP00000417401:p.Pro388Leu		Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	CCDS33508.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	8.935	0.964382	0.18583	.	.	ENSG00000130589	ENST00000467148	T	0.79352	-1.26	4.8	2.77	0.32553	.	0.952674	0.08784	N	0.894294	T	0.74884	0.3775	L	0.50333	1.59	0.09310	N	1	D	0.56035	0.974	B	0.42798	0.398	T	0.62229	-0.6898	10	0.59425	D	0.04	-10.8048	12.8997	0.58119	0.0:0.0:0.4381:0.5619	.	388	Q9BYK8	PR285_HUMAN	L	388	ENSP00000417401:P388L	ENSP00000417401:P388L	P	-	2	0	RP4-697K14.7	61670722	0.003000	0.15002	0.006000	0.13384	0.062000	0.15995	1.126000	0.31344	0.424000	0.26061	0.462000	0.41574	CCG		0.677	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		A	62200278	G	A	62200278	3	1	747	1	0	0	0	0	1	0	0	0	12490	1116	39	1	6869	1	PRIC285	20	62200278	Missense_Mutation	SNP	G	TCGA-KO-8406-01A-11D-2310-10	44618769	62200278	825242	71	43832											
PRPF6	57473	broad.mit.edu	37	20	62648170	62648170	+	Intron	SNP	A	A	G			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr20:62648170A>G	ENST00000450537.1	-	1	56				ZNF512B_ENST00000217130.3_Intron|PRPF6_ENST00000535781.1_Missense_Mutation_p.K540R			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						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)					GAAGATCGGAAGCATACCTGG	0.547																																																0													186	153	165					20																	62648170		2203	4300	6503	SO:0001627	intron_variant	24148			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.4+31887T>C	20.37:g.62648170A>G			Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	A	18.45	3.627152	0.66901	.	.	ENSG00000101161	ENST00000266079;ENST00000535781	T;T	0.34472	1.36;1.36	6.16	5.03	0.67393	Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.40015	0.1100	L	0.55213	1.73	0.80722	D	1	P;B	0.40534	0.72;0.074	B;B	0.44224	0.444;0.063	T	0.19418	-1.0306	10	0.39692	T	0.17	.	13.7549	0.62930	0.8724:0.1276:0.0:0.0	.	540;540	O94906-2;O94906	.;PRP6_HUMAN	R	540	ENSP00000266079:K540R;ENSP00000446216:K540R	ENSP00000266079:K540R	K	+	2	0	PRPF6	62118614	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	7.123000	0.77176	2.367000	0.80283	0.528000	0.53228	AAG		0.547	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		G	62648170	A	G	62648170	1	3	747	0	1	0	0	0	0	0	0	0	12579	72	3	3		3	PRPF6	20	62648170	Intron	SNP	A	TCGA-KO-8406-01A-11D-2310-10	447892	62648170	377350	72	43833											
FTCD	10841	mdanderson.org	37	21	47558473	47558473	+	Silent	SNP	G	G	C	rs1047179	byFrequency	TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr21:47558473G>C	ENST00000291670.5	-	12	1435	c.1392C>G	c.(1390-1392)gcC>gcG	p.A464A	FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000397743.1_Missense_Mutation_p.P450A|FTCD_ENST00000397746.3_Silent_p.A464A|FTCD_ENST00000359679.2_Silent_p.A464A|FTCD_ENST00000355384.2_Missense_Mutation_p.P450A|FTCD_ENST00000397748.1_Silent_p.A464A	NM_006657.2	NP_006648.1	O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	464	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)	GTTCCTGCAGGGCCGGCCACA	0.711													C|||	2409	0.48103	0.5287	0.6599	5008	,	,		12121	0.4296		0.4771	False		,,,				2504	0.3466															0								C	,	2117,2151		576,965,593	6	9	8		1392,1392	-6.6	0	21	dbSNP_86	8	3866,4560		989,1888,1336	no	coding-synonymous,coding-synonymous	FTCD	NM_006657.2,NM_206965.1	,	1565,2853,1929	CC,CG,GG		45.8818,49.6017,47.1325	,	464/542,464/542	47558473	5983,6711	2134	4213	6347	SO:0001819	synonymous_variant	10841			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.1392C>G	21.37:g.47558473G>C			B9EGD0|Q86V03|Q9HCT4|Q9HCT5|Q9HCT6|Q9UHJ2	Silent	SNP	ENST00000291670.5	37	CCDS13731.1	1071|1071	0.49038461538461536|0.49038461538461536	259|259	0.5264227642276422|0.5264227642276422	228|228	0.6298342541436464|0.6298342541436464	226|226	0.3951048951048951|0.3951048951048951	358|358	0.47229551451187335|0.47229551451187335	C|C	0|0	-2.731311|-2.731311	0.00089|0.00089	0.496017|0.496017	0.458818|0.458818	ENSG00000160282|ENSG00000160282	ENST00000355384;ENST00000397743|ENST00000446405	D;D|.	0.83673|.	-1.75;-1.75|.	4.23|4.23	-6.55|-6.55	0.01854|0.01854	.|.	.|.	.|.	.|.	.|.	T|T	0.00012|0.00012	0.0000|0.0000	.|.	.|.	.|.	0.80722|0.80722	P|P	0.0|0.0	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.41963|0.41963	-0.9479|-0.9479	6|3	.|.	.|.	.|.	.|.	3.3951|3.3951	0.07303|0.07303	0.1569:0.1253:0.1552:0.5626|0.1569:0.1253:0.1552:0.5626	rs1047179;rs3187204;rs17411992;rs57145963|rs1047179;rs3187204;rs17411992;rs57145963	450|.	B7WPK3|.	.|.	A|R	450|5	ENSP00000347545:P450A;ENSP00000380851:P450A|.	.|.	P|P	-|-	1|2	0|0	FTCD|FTCD	46382901|46382901	0.000000|0.000000	0.05858|0.05858	0.020000|0.020000	0.16555|0.16555	0.003000|0.003000	0.03518|0.03518	-2.827000|-2.827000	0.00746|0.00746	-1.536000|-1.536000	0.01738|0.01738	-2.002000|-2.002000	0.00443|0.00443	CCT|CCC		0.711	FTCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206962.1	NM_006657		C	47558473	G	C	47558473	2	2	747	1	0	0	0	0	0	0	0	1	6083	1219	43	4		4	FTCD	21	47558473	Silent	SNP	G	TCGA-KO-8406-01A-11D-2310-10		47558473	571422	73	43834											
GGTLC2	91227	mdanderson.org	37	22	22988911	22988911	+	Silent	SNP	G	G	A	rs9612135	byFrequency	TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr22:22988911G>A	ENST00000480559.1	+	1	96	c.96G>A	c.(94-96)ccG>ccA	p.P32P	POM121L1P_ENST00000402027.1_RNA|GGTLC2_ENST00000448514.1_Silent_p.P32P	NM_199127.2	NP_954578.2	Q14390	GGTL2_HUMAN	gamma-glutamyltransferase light chain 2	32					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)	gamma-glutamyltransferase activity (GO:0003840)	p.P32P(1)		endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.3e-31)|Acute lymphoblastic leukemia(6;5.54e-23)		READ - Rectum adenocarcinoma(21;0.145)		TCTACACGCCGGTTGATGGGG	0.617													.|||	1847	0.36881	0.1505	0.6124	5008	,	,		7239	0.5109		0.4056	False		,,,				2504	0.3067															1	Substitution - coding silent(1)	prostate(1)											32	17	22					22																	22988911		2173	3963	6136	SO:0001819	synonymous_variant	91227			X98922	CCDS13802.2	22q11.21	2008-03-25	2008-03-10	2008-03-10	ENSG00000100121	ENSG00000100121		"Gamma-glutamyltransferases"	18596	protein-coding gene	gene with protein product		612339	"gamma-glutamyltransferase-like 4"	GGTL4		9074928, 18357469	Standard	NM_199127		Approved		uc010gtt.2	Q14390	OTTHUMG00000151177	ENST00000480559.1:c.96G>A	22.37:g.22988911G>A			A1A516|A2VCM9|Q5NV76|Q6ISH0	Silent	SNP	ENST00000480559.1	37	CCDS13802.2																																																																																				0.617	GGTLC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321662.1	NM_199127		A	22988911	G	A	22988911	2	1	747	1	0	0	0	0	0	0	0	1	6368	1103	39	1		1	GGTLC2	22	22988911	Silent	SNP	G	TCGA-KO-8406-01A-11D-2310-10		22988911	28315655	74	43835											
SGSM1	129049	broad.mit.edu	37	22	25294500	25294500	+	Missense_Mutation	SNP	G	G	T			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr22:25294500G>T	ENST00000400359.4	+	20	2756	c.2749G>T	c.(2749-2751)Gtg>Ttg	p.V917L	SNORD56_ENST00000362913.1_RNA|SGSM1_ENST00000400358.4_Missense_Mutation_p.V862L	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	917	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						GGTGTCCCCTGTGTCTTCCAG	0.562																																																0													68	73	71					22																	25294500		2042	4189	6231	SO:0001583	missense	129049			AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"Small G protein signaling modulators"	29410	protein-coding gene	gene with protein product		611417	"RUN and TBC1 domain containing 2"	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.2749G>T	22.37:g.25294500G>T	ENSP00000383212:p.Val917Leu		A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Missense_Mutation	SNP	ENST00000400359.4	37	CCDS46674.1	.	.	.	.	.	.	.	.	.	.	G	13.96	2.393481	0.42410	.	.	ENSG00000167037	ENST00000403206;ENST00000400358;ENST00000400359	T;T	0.06849	3.26;3.25	5.09	5.09	0.68999	Rab-GAP/TBC domain (3);	0.531595	0.17307	U	0.179010	T	0.08403	0.0209	L	0.27053	0.805	0.33206	D	0.552802	B;B;B;B	0.33637	0.42;0.21;0.095;0.304	B;B;B;B	0.37239	0.244;0.212;0.077;0.111	T	0.23547	-1.0185	10	0.23891	T	0.37	-29.1052	15.091	0.72195	0.0:0.142:0.858:0.0	.	862;917;934;917	Q2NKQ1-4;C9J7S8;Q2NKQ1-3;Q2NKQ1	.;.;.;SGSM1_HUMAN	L	917;862;917	ENSP00000383211:V862L;ENSP00000383212:V917L	ENSP00000383211:V862L	V	+	1	0	SGSM1	23624500	1.000000	0.71417	0.994000	0.49952	0.645000	0.38454	4.280000	0.58959	2.541000	0.85698	0.591000	0.81541	GTG		0.562	SGSM1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320282.1	XM_059318		T	25294500	G	T	25294500	3	4	747	1	0	0	0	0	1	0	0	0	14228	1377	48	4	2827	4	SGSM1	22	25294500	Missense_Mutation	SNP	G	TCGA-KO-8406-01A-11D-2310-10	2305589	25294500	26010066	75	43836											
C22orf33	339669	mdanderson.org	37	22	37387257	37387257	+	Missense_Mutation	SNP	T	T	C	rs9610624	byFrequency	TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr22:37387257T>C	ENST00000405091.2	-	7	1057	c.806A>G	c.(805-807)tAt>tGt	p.Y269C	TEX33_ENST00000381821.1_Missense_Mutation_p.Y269C|TEX33_ENST00000402860.3_Missense_Mutation_p.Y184C			O43247	TEX33_HUMAN	testis expressed 33	269																	GTTTTCTCCATATTTCTCTTC	0.438													T|||	585	0.116813	0.1369	0.1801	5008	,	,		21699	0.0813		0.0885	False		,,,				2504	0.1104															0								T	CYS/TYR,CYS/TYR	661,3745	281.6+/-276.1	52,557,1594	181	174	176		806,551	0.9	0.1	22	dbSNP_119	176	671,7929	168.4+/-220.0	28,615,3657	yes	missense,missense	C22orf33	NM_001163857.1,NM_178552.3	194,194	80,1172,5251	CC,CT,TT		7.8023,15.0023,10.2414	probably-damaging,probably-damaging	269/281,184/196	37387257	1332,11674	2203	4300	6503	SO:0001583	missense	339669			BC042635	CCDS13937.1, CCDS54524.1	22q12.3	2013-10-11	2012-02-16	2012-02-16	ENSG00000185264	ENSG00000185264			28568	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 33"	C22orf33		22332119	Standard	NM_178552		Approved	MGC35206, EAN57	uc003aqf.3	O43247	OTTHUMG00000150531	ENST00000405091.2:c.806A>G	22.37:g.37387257T>C	ENSP00000386118:p.Tyr269Cys		B1AH46|Q6ICF2|Q8IVQ2|Q9Y4V8	Missense_Mutation	SNP	ENST00000405091.2	37	CCDS54524.1	229|229	0.10485347985347986|0.10485347985347986	68|68	0.13821138211382114|0.13821138211382114	56|56	0.15469613259668508|0.15469613259668508	39|39	0.06818181818181818|0.06818181818181818	66|66	0.0870712401055409|0.0870712401055409	T|T	10.31|10.31	1.315712|1.315712	0.23908|0.23908	0.150023|0.150023	0.078023|0.078023	ENSG00000185264|ENSG00000185264	ENST00000442538|ENST00000402860;ENST00000405091;ENST00000381821	.|.	.|.	.|.	4.43|4.43	0.878|0.878	0.19150|0.19150	.|.	.|1.510860	.|0.04364	.|N	.|0.357914	T|T	0.00210|0.00210	0.0006|0.0006	L|L	0.27053|0.27053	0.805|0.805	0.49798|0.49798	P|P	1.7800000000001148E-4|1.7800000000001148E-4	.|D	.|0.61697	.|0.99	.|P	.|0.50192	.|0.634	T|T	0.08371|0.08371	-1.0725|-1.0725	4|8	.|0.59425	.|D	.|0.04	2.9586|2.9586	8.6414|8.6414	0.33978|0.33978	0.7144:0.0:0.0:0.2856|0.7144:0.0:0.0:0.2856	rs9610624;rs52812150;rs58780254;rs9610624|rs9610624;rs52812150;rs58780254;rs9610624	.|269	.|O43247	.|EAN57_HUMAN	M|C	127|184;269;269	.|.	.|ENSP00000371243:Y269C	I|Y	-|-	3|2	3|0	C22orf33|C22orf33	35717203|35717203	0.022000|0.022000	0.18835|0.18835	0.062000|0.062000	0.19696|0.19696	0.175000|0.175000	0.22909|0.22909	0.127000|0.127000	0.15790|0.15790	-0.141000|-0.141000	0.11374|0.11374	0.460000|0.460000	0.39030|0.39030	ATA|TAT		0.438	TEX33-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318778.2	NM_178552		C	37387257	T	C	37387257	3	2	747	1	0	0	0	0	1	0	0	0	2147	1406	49	3	40	3	C22orf33	22	37387257	Missense_Mutation	SNP	T	TCGA-KO-8406-01A-11D-2310-10	12092757	37387257	13917309	76	43837											
TUBGCP6	85378	ucsc.edu	37	22	50666367	50666367	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr22:50666367A>G	ENST00000248846.5	-	5	1485	c.1381T>C	c.(1381-1383)Ttt>Ctt	p.F461L	TUBGCP6_ENST00000439308.2_Missense_Mutation_p.F461L|TUBGCP6_ENST00000491449.1_5'Flank			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	461					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)		TTGAAGAGAAAACCAATGGTG	0.622																																																0													50	42	45					22																	50666367		2199	4298	6497	SO:0001583	missense	85378			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.1381T>C	22.37:g.50666367A>G	ENSP00000248846:p.Phe461Leu		Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP	ENST00000248846.5	37	CCDS14087.1	.	.	.	.	.	.	.	.	.	.	A	27.8	4.861449	0.91433	.	.	ENSG00000128159	ENST00000248846;ENST00000439308	T;T	0.06849	3.25;3.25	5.44	5.44	0.79542	.	0.658896	0.16003	N	0.234200	T	0.19685	0.0473	L	0.47716	1.5	0.47308	D	0.999382	D;D	0.67145	0.991;0.996	D;D	0.63033	0.91;0.91	T	0.02966	-1.1088	10	0.20046	T	0.44	.	15.1606	0.72782	1.0:0.0:0.0:0.0	.	461;461	B2RWN4;Q96RT7	.;GCP6_HUMAN	L	461	ENSP00000248846:F461L;ENSP00000397387:F461L	ENSP00000248846:F461L	F	-	1	0	TUBGCP6	49008494	1.000000	0.71417	0.874000	0.34290	0.955000	0.61496	7.402000	0.79972	2.065000	0.61736	0.260000	0.18958	TTT		0.622	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		G	50666367	A	G	50666367	3	3	747	1	0	0	0	0	1	0	0	0	16775	14	1	3	4162	3	TUBGCP6	22	50666367	Missense_Mutation	SNP	A	TCGA-KO-8406-01A-11D-2310-10	13279110	50666367	638199	77	43838											
VCX3B	425054	mdanderson.org	37	X	8434368	8434368	+	Missense_Mutation	SNP	G	G	C	rs199956874		TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chrX:8434368G>C	ENST00000381032.1	+	3	992	c.685G>C	c.(685-687)Gag>Cag	p.E229Q	VCX3B_ENST00000453306.1_Intron|VCX3B_ENST00000440654.2_Intron|VCX3B_ENST00000381029.4_Missense_Mutation_p.E197Q|VCX3B_ENST00000444481.1_Missense_Mutation_p.E199Q	NM_001001888.3	NP_001001888.3	Q9H321	VCX3B_HUMAN	variable charge, X-linked 3B	229	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						TCAGGAGAGCGAGATGGAAGA	0.552																																																0													107	224	188					X																	8434368		1821	4116	5937	SO:0001583	missense	425054				CCDS48077.1, CCDS48077.2	Xp22.31	2009-01-14			ENSG00000205642	ENSG00000205642			31838	protein-coding gene	gene with protein product							Standard	NM_001001888		Approved	VCX-C	uc011mht.2	Q9H321	OTTHUMG00000021106	ENST00000381032.1:c.685G>C	X.37:g.8434368G>C	ENSP00000370420:p.Glu229Gln		C9JS46|Q4KN12	Missense_Mutation	SNP	ENST00000381032.1	37	CCDS48077.2	.	.	.	.	.	.	.	.	.	.	N	0.117	-1.130626	0.01756	.	.	ENSG00000205642	ENST00000381032;ENST00000444481;ENST00000381029	T;T;T	0.17213	2.29;2.29;2.29	0.601	0.601	0.17529	.	.	.	.	.	T	0.06280	0.0162	N	0.04508	-0.205	0.09310	N	1	B	0.11235	0.004	B	0.01281	0.0	T	0.44360	-0.9333	9	0.11794	T	0.64	.	6.2349	0.20758	0.0:0.3789:0.621:0.0	.	199	Q9H321	VCX3B_HUMAN	Q	229;199;197	ENSP00000370420:E229Q;ENSP00000414780:E199Q;ENSP00000370417:E197Q	ENSP00000370417:E197Q	E	+	1	0	VCX3B	8394368	0.004000	0.15560	0.001000	0.08648	0.006000	0.05464	-1.478000	0.02329	-0.223000	0.09943	-1.002000	0.02502	GAG		0.552	VCX3B-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055691.1			C	8434368	G	C	8434368	3	2	747	1	0	0	0	0	1	0	0	0	17150	1059	37	4	605	4	VCX3B	23	8434368	Missense_Mutation	SNP	G	TCGA-KO-8406-01A-11D-2310-10		8434368	146836192	78	43839	437	2									
VCX3B	425054	mdanderson.org	37	X	8434371	8434371	+	Missense_Mutation	SNP	A	A	G	rs113934664		TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chrX:8434371A>G	ENST00000381032.1	+	3	995	c.688A>G	c.(688-690)Atg>Gtg	p.M230V	VCX3B_ENST00000453306.1_Intron|VCX3B_ENST00000440654.2_Intron|VCX3B_ENST00000381029.4_Missense_Mutation_p.M198V|VCX3B_ENST00000444481.1_Missense_Mutation_p.M200V	NM_001001888.3	NP_001001888.3	Q9H321	VCX3B_HUMAN	variable charge, X-linked 3B	230	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						GGAGAGCGAGATGGAAGAACC	0.562													-|||	45	0.0119205	0.0257	0.0029	3775	,	,		6024	0.005		0.002	False		,,,				2504	0.002															0													110	235	197					X																	8434371		1822	4119	5941	SO:0001583	missense	425054				CCDS48077.1, CCDS48077.2	Xp22.31	2009-01-14			ENSG00000205642	ENSG00000205642			31838	protein-coding gene	gene with protein product							Standard	NM_001001888		Approved	VCX-C	uc011mht.2	Q9H321	OTTHUMG00000021106	ENST00000381032.1:c.688A>G	X.37:g.8434371A>G	ENSP00000370420:p.Met230Val		C9JS46|Q4KN12	Missense_Mutation	SNP	ENST00000381032.1	37	CCDS48077.2	.	.	.	.	.	.	.	.	.	.	N	0	-2.811973	0.00073	.	.	ENSG00000205642	ENST00000381032;ENST00000444481;ENST00000381029	T;T;T	0.12361	2.69;2.69;2.69	0.601	-1.2	0.09554	.	.	.	.	.	T	0.06234	0.0161	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.37454	-0.9705	9	0.26408	T	0.33	.	3.1275	0.06412	0.4758:0.2846:0.2396:0.0	.	200	Q9H321	VCX3B_HUMAN	V	230;200;198	ENSP00000370420:M230V;ENSP00000414780:M200V;ENSP00000370417:M198V	ENSP00000370417:M198V	M	+	1	0	VCX3B	8394371	0.012000	0.17670	0.003000	0.11579	0.011000	0.07611	-1.907000	0.01589	-1.815000	0.01222	-1.090000	0.02178	ATG		0.562	VCX3B-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055691.1			G	8434371	A	G	8434371	3	3	747	1	0	0	0	0	1	0	0	0	17150	333	12	3	608	3	VCX3B	23	8434371	Missense_Mutation	SNP	A	TCGA-KO-8406-01A-11D-2310-10	3	8434371	146836189	79	43840	437	2									
SMARCA1	6594	broad.mit.edu	37	X	128614736	128614736	+	Missense_Mutation	SNP	C	C	T	rs375431295		TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chrX:128614736C>T	ENST00000371122.4	-	19	2513	c.2384G>A	c.(2383-2385)cGc>cAc	p.R795H	SMARCA1_ENST00000371123.1_Missense_Mutation_p.R783H|SMARCA1_ENST00000371121.3_Missense_Mutation_p.R783H	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	795					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						CTCAAATAAGCGTGGTGGGAA	0.323																																																0								C	HIS/ARG,HIS/ARG	0,3835		0,0,1632,571	60	61	61		2384,2348	5.1	1	X		61	1,6727		0,1,2427,1872	no	missense,missense	SMARCA1	NM_003069.3,NM_139035.2	29,29	0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095	probably-damaging,probably-damaging	795/1055,783/1043	128614736	1,10562	2203	4300	6503	SO:0001583	missense	6594			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.2384G>A	X.37:g.128614736C>T	ENSP00000360163:p.Arg795His		Q5JV41|Q5JV42	Missense_Mutation	SNP	ENST00000371122.4	37	CCDS14612.1	.	.	.	.	.	.	.	.	.	.	C	33	5.234113	0.95207	0.0	1.49E-4	ENSG00000102038	ENST00000371121;ENST00000371123;ENST00000371122;ENST00000450039	D;D;D;D	0.92199	-2.99;-2.99;-2.98;-2.97	5.1	5.1	0.69264	ATPase, nucleosome remodelling ISWI, HAND domain (2);	0.000000	0.64402	D	0.000018	D	0.96750	0.8939	M	0.93375	3.41	0.80722	D	1	D;D;D;D	0.69078	0.997;0.997;0.996;0.997	P;P;P;P	0.60886	0.88;0.88;0.809;0.88	D	0.97940	1.0325	10	0.87932	D	0	-5.865	17.6491	0.88158	0.0:1.0:0.0:0.0	.	774;795;783;795	E9PCY3;B7ZLQ5;P28370-2;P28370	.;.;.;SMCA1_HUMAN	H	783;783;795;774	ENSP00000360162:R783H;ENSP00000360164:R783H;ENSP00000360163:R795H;ENSP00000404275:R774H	ENSP00000360162:R783H	R	-	2	0	SMARCA1	128442417	1.000000	0.71417	0.977000	0.42913	0.978000	0.69477	6.045000	0.71020	2.096000	0.63516	0.529000	0.55759	CGC		0.323	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	NM_003069		T	128614736	C	T	128614736	3	4	747	1	0	0	0	0	1	0	0	0	14774	768	27	1	804	1	SMARCA1	23	128614736	Missense_Mutation	SNP	C	TCGA-KO-8406-01A-11D-2310-10	120180365	128614736	26655824	80	43841											
TAS1R3	83756	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	1	1268041	1268041	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr1:1268041C>T	ENST00000339381.5	+	3	1162	c.1130C>T	c.(1129-1131)aCg>aTg	p.T377M		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	377					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)		GACTGCATCACGCTGCAGAAC	0.642																																																0													24	22	23					1																	1268041		2193	4292	6485	SO:0001583	missense	83756			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.1130C>T	1.37:g.1268041C>T	ENSP00000344411:p.Thr377Met		Q5TA49|Q8NGW9	Missense_Mutation	SNP	ENST00000339381.5	37	CCDS30556.1	.	.	.	.	.	.	.	.	.	.	C	5.099	0.203895	0.09704	.	.	ENSG00000169962	ENST00000339381	D	0.81996	-1.56	4.71	2.73	0.32206	Extracellular ligand-binding receptor (1);	3.801630	0.00520	N	0.000181	T	0.74520	0.3727	L	0.34521	1.04	0.09310	N	1	P	0.45212	0.853	B	0.37198	0.243	T	0.64433	-0.6409	10	0.30854	T	0.27	.	7.1638	0.25679	0.0:0.6293:0.1846:0.1861	.	377	Q7RTX0	TS1R3_HUMAN	M	377	ENSP00000344411:T377M	ENSP00000344411:T377M	T	+	2	0	TAS1R3	1257904	0.004000	0.15560	0.002000	0.10522	0.005000	0.04900	0.968000	0.29357	0.948000	0.37687	0.561000	0.74099	ACG		0.642	TAS1R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008493.1			T	1268041	C	T	1268041	3	4	748	1	0	0	0	0	1	0	0	0	15569	536	19	1	1140	1	TAS1R3	1	1268041	Missense_Mutation	SNP	C	TCGA-KO-8407-01A-11D-2310-10		1268041	247982580	1	43842											
ATP13A2	23400	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	1	17331882	17331882	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr1:17331882A>G	ENST00000326735.8	-	3	308	c.275T>C	c.(274-276)aTa>aCa	p.I92T	ATP13A2_ENST00000341676.5_Missense_Mutation_p.I92T|ATP13A2_ENST00000452699.1_Missense_Mutation_p.I92T|RP1-37C10.3_ENST00000446261.1_RNA			Q9NQ11	AT132_HUMAN	ATPase type 13A2	92					cell death (GO:0008219)|cellular response to manganese ion (GO:0071287)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		TTTGTCTCTTATTTCGATAAC	0.637																																																0													28	31	30					1																	17331882		2202	4299	6501	SO:0001583	missense	23400			AL354615	CCDS175.1, CCDS44072.1, CCDS44073.1	1p36	2014-09-17			ENSG00000159363	ENSG00000159363		"ATPases / P-type", "Parkinson disease"	30213	protein-coding gene	gene with protein product		610513	"Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)"	PARK9		15381061, 16964263	Standard	XM_005245809		Approved	HSA9947, CLN12	uc001baa.2	Q9NQ11	OTTHUMG00000002293	ENST00000326735.8:c.275T>C	1.37:g.17331882A>G	ENSP00000327214:p.Ile92Thr		O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Missense_Mutation	SNP	ENST00000326735.8	37	CCDS175.1	.	.	.	.	.	.	.	.	.	.	A	6.938	0.542775	0.13250	.	.	ENSG00000159363	ENST00000326735;ENST00000341676;ENST00000452699	D;D;D	0.92545	-2.8;-3.06;-2.79	3.85	-1.4	0.08968	.	0.722701	0.12684	N	0.447692	T	0.79269	0.4417	N	0.16098	0.37	0.25600	N	0.986609	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.14023	0.01;0.001;0.001	T	0.64368	-0.6424	10	0.02654	T	1	-3.0825	8.3771	0.32449	0.654:0.0:0.346:0.0	.	92;92;92	Q5JXY1;Q6S9Z9;Q9NQ11	.;.;AT132_HUMAN	T	92	ENSP00000327214:I92T;ENSP00000341115:I92T;ENSP00000413307:I92T	ENSP00000327214:I92T	I	-	2	0	ATP13A2	17204469	0.994000	0.37717	0.993000	0.49108	0.990000	0.78478	0.255000	0.18333	-0.382000	0.07870	0.402000	0.26972	ATA		0.637	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006617.1	NM_022089		G	17331882	A	G	17331882	3	3	748	1	0	0	0	0	1	0	0	0	1124	449	16	3	3611	3	ATP13A2	1	17331882	Missense_Mutation	SNP	A	TCGA-KO-8407-01A-11D-2310-10	16063841	17331882	231918739	2	43843											
HIPK1	204851	broad.mit.edu	37	1	114483676	114483676	+	Missense_Mutation	SNP	A	A	C			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr1:114483676A>C	ENST00000369558.1	+	2	903	c.671A>C	c.(670-672)cAc>cCc	p.H224P	HIPK1_ENST00000369561.4_Missense_Mutation_p.H224P|HIPK1_ENST00000369555.2_Missense_Mutation_p.H224P|HIPK1_ENST00000369559.4_Missense_Mutation_p.H224P|HIPK1_ENST00000426820.2_Missense_Mutation_p.H224P|HIPK1_ENST00000369554.2_Missense_Mutation_p.H224P			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	224	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-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)		TTGAAGAACCACCCCTCCTAT	0.478																																																0													83	85	85					1																	114483676		2203	4300	6503	SO:0001583	missense	204851			AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.671A>C	1.37:g.114483676A>C	ENSP00000358571:p.His224Pro		A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Missense_Mutation	SNP	ENST00000369558.1	37	CCDS867.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.984379	0.74474	.	.	ENSG00000163349	ENST00000426820;ENST00000369559;ENST00000443627;ENST00000369554;ENST00000369555;ENST00000369558;ENST00000369561	T;T;T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11	5.81	5.81	0.92471	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	0.61602	0.2360	N	0.21448	0.665	0.80722	D	1	D;D	0.69078	0.997;0.988	D;D	0.81914	0.995;0.977	T	0.69756	-0.5059	10	0.87932	D	0	.	16.1738	0.81836	1.0:0.0:0.0:0.0	.	224;224	Q86Z02;Q86Z02-2	HIPK1_HUMAN;.	P	295;224;224;224;224;224;224	ENSP00000407442:H295P;ENSP00000358572:H224P;ENSP00000409673:H224P;ENSP00000358567:H224P;ENSP00000358568:H224P;ENSP00000358571:H224P;ENSP00000358574:H224P	ENSP00000358567:H224P	H	+	2	0	HIPK1	114285199	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.249000	0.95470	2.221000	0.72209	0.455000	0.32223	CAC		0.478	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	NM_198268		C	114483676	A	C	114483676	3	2	748	1	0	0	0	0	1	0	0	0	7118	159	6	5	673	5	HIPK1	1	114483676	Missense_Mutation	SNP	A	TCGA-KO-8407-01A-11D-2310-10	97151794	114483676	134766945	3	43844											
SYT11	23208	bcgsc.ca	37	1	155837927	155837927	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr1:155837927T>C	ENST00000368324.4	+	2	459	c.206T>C	c.(205-207)cTc>cCc	p.L69P	SYT11_ENST00000539162.1_Intron	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	69					negative regulation of neurotransmitter secretion (GO:0046929)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			CCAGAGACCCTCAGCAACAAG	0.517																																																0													154	140	145					1																	155837927		2203	4300	6503	SO:0001583	missense	23208			D38522	CCDS1122.1	1q22	2013-01-21			ENSG00000132718	ENSG00000132718		"Synaptotagmins"	19239	protein-coding gene	gene with protein product		608741				11543631	Standard	NM_152280		Approved	KIAA0080, MGC10881, MGC17226, DKFZp781D015	uc001fmg.3	Q9BT88	OTTHUMG00000014105	ENST00000368324.4:c.206T>C	1.37:g.155837927T>C	ENSP00000357307:p.Leu69Pro		Q14998|Q5W0D4|Q68CT5|Q8IXU3|Q96SU2	Missense_Mutation	SNP	ENST00000368324.4	37	CCDS1122.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.015340	0.75161	.	.	ENSG00000132718	ENST00000368324	T	0.59083	0.29	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.64853	0.2636	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.67352	-0.5692	10	0.52906	T	0.07	.	15.7349	0.77834	0.0:0.0:0.0:1.0	.	69	Q9BT88	SYT11_HUMAN	P	69	ENSP00000357307:L69P	ENSP00000357307:L69P	L	+	2	0	SYT11	154104551	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.013000	0.88655	2.195000	0.70347	0.533000	0.62120	CTC		0.517	SYT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039597.1	NM_152280		C	155837927	T	C	155837927	3	2	748	1	0	0	0	0	1	0	0	0	15472	1551	54	3	212	3	SYT11	1	155837927	Missense_Mutation	SNP	T	TCGA-KO-8407-01A-11D-2310-10	41354251	155837927	93412694	4	43845											
BCAN	63827	hgsc.bcm.edu	37	1	156616757	156616758	+	In_Frame_Ins	INS	-	-	GGGAGG	rs376527030		TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr1:156616757_156616758insGGGAGG	ENST00000329117.5	+	3	592_593	c.256_257insGGGAGG	c.(256-258)cgg>cGGGAGGgg	p.86_87insEG	BCAN_ENST00000361588.5_In_Frame_Ins_p.86_87insEG|RP11-284F21.7_ENST00000448869.1_RNA|RP11-284F21.10_ENST00000605886.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	86	Ig-like V-type.				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)					GTCCCGGGGCCGGGAGGCAGAG	0.708																																																0																																										SO:0001652	inframe_insertion	63827			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.257_262dupGGGAGG	1.37:g.156616758_156616763dupGGGAGG	ENSP00000331210:p.Arg86_Glu87insGluGly		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	In_Frame_Ins	INS	ENST00000329117.5	37	CCDS1149.1																																																																																				0.708	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		GGGAGG	156616758	-	GGGAGG	156616757	7	5	748	1	0	1	1	0	0	0	0	0	1345	643	23	0	262	0	BCAN	1	156616757	In_Frame_Ins	INS	-	TCGA-KO-8407-01A-11D-2310-10	778830	156616757	92633864	5	43846											
METTL13	51603	ucsc.edu	37	1	171753605	171753605	+	Silent	SNP	A	A	G			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr1:171753605A>G	ENST00000361735.3	+	2	1145	c.879A>G	c.(877-879)aaA>aaG	p.K293K	METTL13_ENST00000458517.1_Silent_p.K292K|METTL13_ENST00000367737.5_Intron|METTL13_ENST00000362019.3_Silent_p.K207K	NM_015935.4	NP_057019.3	Q8N6R0	MET13_HUMAN	methyltransferase like 13	293							methyltransferase activity (GO:0008168)			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						CCACTGTGAAACCATCGCGGG	0.617																																																0													14	15	15					1																	171753605		2191	4267	6458	SO:0001819	synonymous_variant	51603			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.879A>G	1.37:g.171753605A>G			A6NFK0|A8K6S5|O94940|Q53EZ6|Q5TGP9|Q5TGQ0|Q8N2P8|Q96J11|Q96SQ0|Q9Y2Z1|Q9Y3M6	Silent	SNP	ENST00000361735.3	37	CCDS1299.1																																																																																				0.617	METTL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084528.5	NM_014955		G	171753605	A	G	171753605	2	3	748	1	0	0	0	0	0	0	0	1	9499	40	2	3		3	METTL13	1	171753605	Silent	SNP	A	TCGA-KO-8407-01A-11D-2310-10	15136848	171753605	77497016	6	43847											
ATP2B4	493	broad.mit.edu	37	1	203693038	203693039	+	Frame_Shift_Ins	INS	-	-	T			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr1:203693038_203693039insT	ENST00000357681.5	+	19	4177_4178	c.3054_3055insT	c.(3055-3057)ttcfs	p.F1019fs	ATP2B4_ENST00000367219.3_Frame_Shift_Ins_p.F1007fs|ATP2B4_ENST00000391954.2_Intron|ATP2B4_ENST00000341360.2_Frame_Shift_Ins_p.F1019fs|ATP2B4_ENST00000367218.3_Frame_Shift_Ins_p.F1019fs	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	1019					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GGGGTAAACCCTTCAGTTGTAC	0.545																																																0																																										SO:0001589	frameshift_variant	493			M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"ATPases / P-type"	817	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 4"	108732	"matrix-remodelling associated 1"	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.3056dupT	1.37:g.203693040_203693040dupT	ENSP00000350310:p.Phe1019fs		B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Frame_Shift_Ins	INS	ENST00000357681.5	37	CCDS1440.1																																																																																				0.545	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	NM_001001396		T	203693039	-	T	203693038	7	5	748	1	0	1	1	0	0	0	0	0	1142	668	24	0	3124	0	ATP2B4	1	203693038	Frame_Shift_Ins	INS	-	TCGA-KO-8407-01A-11D-2310-10	31939433	203693038	45557583	7	43848											
EIF5B	9669	bcgsc.ca	37	2	99995848	99995848	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr2:99995848T>C	ENST00000289371.6	+	12	2220	c.2018T>C	c.(2017-2019)gTt>gCt	p.V673A		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	673	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GCCACCAATGTTCCTCTTGAA	0.343																																					Colon(162;2388 2567 2705 3444)											0													104	94	97					2																	99995848		1868	4103	5971	SO:0001583	missense	9669			AF078035	CCDS42721.1	2q11.2	2012-09-20			ENSG00000158417	ENSG00000158417			30793	protein-coding gene	gene with protein product	"translation initiation factor IF2"	606086				10200264, 10432305	Standard	XM_005264075		Approved	IF2, KIAA0741, DKFZp434I036, FLJ10524	uc002tab.3	O60841	OTTHUMG00000153242	ENST00000289371.6:c.2018T>C	2.37:g.99995848T>C	ENSP00000289371:p.Val673Ala		O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	Missense_Mutation	SNP	ENST00000289371.6	37	CCDS42721.1	.	.	.	.	.	.	.	.	.	.	T	28.7	4.942866	0.92526	.	.	ENSG00000158417	ENST00000289371	T	0.76839	-1.05	5.78	5.78	0.91487	Small GTP-binding protein domain (1);Protein synthesis factor, GTP-binding (1);	.	.	.	.	D	0.89125	0.6626	M	0.86651	2.83	0.80722	D	1	D	0.64830	0.994	D	0.69479	0.964	D	0.90314	0.4339	8	.	.	.	-24.6168	16.1127	0.81273	0.0:0.0:0.0:1.0	.	673	O60841	IF2P_HUMAN	A	673	ENSP00000289371:V673A	.	V	+	2	0	EIF5B	99362280	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.717000	0.84732	2.212000	0.71576	0.260000	0.18958	GTT		0.343	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330364.2	NM_015904		C	99995848	T	C	99995848	3	2	748	1	0	0	0	0	1	0	0	0	5046	1725	60	3	2064	3	EIF5B	2	99995848	Missense_Mutation	SNP	T	TCGA-KO-8407-01A-11D-2310-10		99995848	143203525	8	43849											
C2orf49	79074	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	2	105956200	105956200	+	Missense_Mutation	SNP	C	C	A			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr2:105956200C>A	ENST00000258457.2	+	2	489	c.260C>A	c.(259-261)aCt>aAt	p.T87N	C2orf49_ENST00000410049.1_Missense_Mutation_p.T87N|RP11-332H14.2_ENST00000610036.1_lincRNA|C2orf49_ENST00000437250.2_Missense_Mutation_p.T125N			Q9BVC5	ASHWN_HUMAN	chromosome 2 open reading frame 49	87					embryonic morphogenesis (GO:0048598)	tRNA-splicing ligase complex (GO:0072669)				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6						AAAAATGAGACTAAAAGGTAC	0.308																																																0													63	66	65					2																	105956200		2203	4300	6503	SO:0001583	missense	79074			BC001310	CCDS2068.1, CCDS74550.1	2q12.2	2009-04-22			ENSG00000135974	ENSG00000135974			28772	protein-coding gene	gene with protein product	"ashwin"					12477932	Standard	NM_001286537		Approved	MGC5509, asw	uc002tcs.1	Q9BVC5	OTTHUMG00000130808	ENST00000258457.2:c.260C>A	2.37:g.105956200C>A	ENSP00000258457:p.Thr87Asn		B3KXN3|B4E2G9	Missense_Mutation	SNP	ENST00000258457.2	37	CCDS2068.1	.	.	.	.	.	.	.	.	.	.	C	9.774	1.173471	0.21704	.	.	ENSG00000135974	ENST00000258457;ENST00000437250;ENST00000410049	T;T;T	0.47177	0.85;0.85;0.85	5.57	2.6	0.31112	.	0.638126	0.16883	N	0.195629	T	0.24812	0.0602	N	0.22421	0.69	0.09310	N	0.999992	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.07751	-1.0756	10	0.16896	T	0.51	-2.0156	1.54	0.02553	0.2836:0.4246:0.1153:0.1765	.	125;87	B4E2G9;Q9BVC5	.;ASHWN_HUMAN	N	87;125;87	ENSP00000258457:T87N;ENSP00000400208:T125N;ENSP00000386361:T87N	ENSP00000258457:T87N	T	+	2	0	C2orf49	105322632	0.001000	0.12720	0.948000	0.38648	0.996000	0.88848	0.345000	0.19979	1.366000	0.46076	0.585000	0.79938	ACT		0.308	C2orf49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253353.2	NM_024093		A	105956200	C	A	105956200	3	1	748	1	0	0	0	0	1	0	0	0	2173	565	20	4	266	4	C2orf49	2	105956200	Missense_Mutation	SNP	C	TCGA-KO-8407-01A-11D-2310-10	5960352	105956200	137243173	9	43850											
NDUFS1	4719	broad.mit.edu	37	2	206988916	206988916	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr2:206988916A>G	ENST00000233190.6	-	19	2443	c.2177T>C	c.(2176-2178)aTa>aCa	p.I726T	NDUFS1_ENST00000440274.1_Missense_Mutation_p.I690T|AC007383.4_ENST00000453039.1_RNA|NDUFS1_ENST00000423725.1_Missense_Mutation_p.I669T|NDUFS1_ENST00000455934.2_Missense_Mutation_p.I740T|NDUFS1_ENST00000457011.1_Missense_Mutation_p.I610T|NDUFS1_ENST00000432169.1_Missense_Mutation_p.I615T|NDUFS1_ENST00000449699.1_Missense_Mutation_p.I726T	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	726					apoptotic mitochondrial changes (GO:0008637)|ATP metabolic process (GO:0046034)|cellular metabolic process (GO:0044237)|cellular respiration (GO:0045333)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747)	2 iron, 2 sulfur cluster binding (GO:0051537)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCTTCAGCATATGGATGGTTC	0.408																																																0													116	97	104					2																	206988916		2203	4300	6503	SO:0001583	missense	4719				CCDS2366.1, CCDS56162.1, CCDS56163.1, CCDS56164.1, CCDS56165.1	2q33-q34	2011-07-04	2002-08-29		ENSG00000023228	ENSG00000023228	1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7707	protein-coding gene	gene with protein product	"complex I 75kDa subunit", "NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial"	157655	"NADH dehydrogenase (ubiquinone) Fe-S protein 1 (75kD) (NADH-coenzyme Q reductase)"			1935949	Standard	NM_005006		Approved	CI-75k	uc010ziq.2	P28331	OTTHUMG00000132892	ENST00000233190.6:c.2177T>C	2.37:g.206988916A>G	ENSP00000233190:p.Ile726Thr		B4DIN9|B4DJA0|B4DPG1|B4DUC1|E7ENF3|Q53TR8|Q8N1C4|Q8TCC9	Missense_Mutation	SNP	ENST00000233190.6	37	CCDS2366.1	.	.	.	.	.	.	.	.	.	.	A	14.68	2.608040	0.46527	.	.	ENSG00000023228	ENST00000233190;ENST00000423725;ENST00000457011;ENST00000440274;ENST00000455934;ENST00000449699;ENST00000432169	D;D;D;D;D;D;D	0.88431	-2.35;-2.33;-2.23;-2.24;-2.38;-2.35;-2.23	5.26	5.26	0.73747	.	0.137318	0.64402	D	0.000007	D	0.83510	0.5270	L	0.36672	1.1	0.47407	D	0.99941	B;B;B;B	0.25955	0.138;0.049;0.025;0.007	B;B;B;B	0.19666	0.022;0.026;0.013;0.013	T	0.81996	-0.0676	10	0.72032	D	0.01	-10.7223	12.3475	0.55130	0.8595:0.1405:0.0:0.0	.	615;690;740;726	B4DPG1;E7ENF3;B4DJA0;P28331	.;.;.;NDUS1_HUMAN	T	726;669;610;690;740;726;615	ENSP00000233190:I726T;ENSP00000397760:I669T;ENSP00000400976:I610T;ENSP00000409766:I690T;ENSP00000392709:I740T;ENSP00000399912:I726T;ENSP00000409689:I615T	ENSP00000233190:I726T	I	-	2	0	NDUFS1	206697161	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	5.774000	0.68906	1.988000	0.58038	0.460000	0.39030	ATA		0.408	NDUFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256391.4	NM_005006		G	206988916	A	G	206988916	3	3	748	1	0	0	0	0	1	0	0	0	10293	449	16	3	10	3	NDUFS1	2	206988916	Missense_Mutation	SNP	A	TCGA-KO-8407-01A-11D-2310-10	101032716	206988916	36210457	10	43851											
KIF1A	547	ucsc.edu	37	2	241697840	241697840	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr2:241697840T>C	ENST00000320389.7	-	25	2650	c.2492A>G	c.(2491-2493)gAc>gGc	p.D831G	KIF1A_ENST00000498729.2_Missense_Mutation_p.D840G	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	831					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)		CACCACGTTGTCACAGTCCTC	0.642																																																0													63	73	70					2																	241697840		2166	4261	6427	SO:0001583	missense	547			AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"Kinesins", "Pleckstrin homology (PH) domain containing"	888	protein-coding gene	gene with protein product		601255	"axonal transport of synaptic vesicles", "chromosome 2 open reading frame 20", "spastic paraplegia 30 (autosomal recessive)"	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.2492A>G	2.37:g.241697840T>C	ENSP00000322791:p.Asp831Gly		B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.166941	0.78339	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	T;T;T	0.78707	-1.2;-1.2;-1.2	5.28	5.28	0.74379	.	0.060427	0.64402	U	0.000005	T	0.71400	0.3335	L	0.36672	1.1	0.80722	D	1	B;P;B	0.40875	0.125;0.731;0.033	B;B;B	0.41946	0.173;0.371;0.077	T	0.70026	-0.4985	10	0.28530	T	0.3	.	14.8408	0.70223	0.0:0.0:0.0:1.0	.	840;840;831	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	G	831;840;840;840	ENSP00000322791:D831G;ENSP00000438388:D840G;ENSP00000384231:D840G	ENSP00000322791:D831G	D	-	2	0	KIF1A	241346513	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.043000	0.71004	1.999000	0.58509	0.482000	0.46254	GAC		0.642	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		C	241697840	T	C	241697840	3	2	748	1	0	0	0	0	1	0	0	0	8285	1667	58	3	2672	3	KIF1A	2	241697840	Missense_Mutation	SNP	T	TCGA-KO-8407-01A-11D-2310-10	34708924	241697840	1501533	11	43852											
VILL	50853	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	3	38040486	38040486	+	Missense_Mutation	SNP	G	G	T			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr3:38040486G>T	ENST00000283713.6	+	10	1292	c.1026G>T	c.(1024-1026)caG>caT	p.Q342H	VILL_ENST00000465644.1_Missense_Mutation_p.Q60H|VILL_ENST00000383759.2_Missense_Mutation_p.Q342H			O15195	VILL_HUMAN	villin-like	342					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)		CGTTCAAGCAGCTCTTCCGGA	0.706																																																0													21	21	21					3																	38040486		2197	4293	6490	SO:0001583	missense	50853				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.1026G>T	3.37:g.38040486G>T	ENSP00000283713:p.Gln342His		A8MZP1|Q9BT80|Q9BWH7	Missense_Mutation	SNP	ENST00000283713.6	37	CCDS2670.2	.	.	.	.	.	.	.	.	.	.	G	15.18	2.756925	0.49362	.	.	ENSG00000136059	ENST00000283713;ENST00000383759;ENST00000356246;ENST00000465644	T;T;T	0.31769	1.48;1.48;1.48	3.97	2.07	0.26955	.	0.331612	0.34133	N	0.004226	T	0.45256	0.1333	M	0.82716	2.605	0.32969	D	0.522115	D;P	0.52996	0.957;0.937	P;P	0.55667	0.781;0.533	T	0.56950	-0.7894	10	0.59425	D	0.04	-9.0365	5.5574	0.17123	0.1793:0.0:0.6603:0.1604	.	328;342	O15195-2;O15195	.;VILL_HUMAN	H	342;342;328;60	ENSP00000283713:Q342H;ENSP00000373266:Q342H;ENSP00000422096:Q60H	ENSP00000283713:Q342H	Q	+	3	2	VILL	38015490	1.000000	0.71417	0.997000	0.53966	0.292000	0.27327	0.696000	0.25541	0.407000	0.25591	-0.350000	0.07774	CAG		0.706	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253360.3	NM_015873		T	38040486	G	T	38040486	3	4	748	1	0	0	0	0	1	0	0	0	17170	962	34	4	1060	4	VILL	3	38040486	Missense_Mutation	SNP	G	TCGA-KO-8407-01A-11D-2310-10		38040486	159981944	12	43853											
MYRIP	25924	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	3	40211564	40211564	+	Missense_Mutation	SNP	C	C	T	rs142520074		TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr3:40211564C>T	ENST00000302541.6	+	8	1195	c.853C>T	c.(853-855)Cgt>Tgt	p.R285C	MYRIP_ENST00000444716.1_Missense_Mutation_p.R285C|MYRIP_ENST00000425621.1_Missense_Mutation_p.R285C|MYRIP_ENST00000396217.3_Missense_Mutation_p.R196C|MYRIP_ENST00000539167.1_Missense_Mutation_p.R98C|MYRIP_ENST00000459828.1_3'UTR	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	285	Myosin-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)		TGGAGGCTACCGTGCTCCCGC	0.587																																																0								C	CYS/ARG	0,4406		0,0,2203	82	73	76		853	2.7	0	3	dbSNP_134	76	1,8599	1.2+/-3.3	0,1,4299	no	missense	MYRIP	NM_015460.2	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	285/860	40211564	1,13005	2203	4300	6503	SO:0001583	missense	25924			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.853C>T	3.37:g.40211564C>T	ENSP00000301972:p.Arg285Cys		B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Missense_Mutation	SNP	ENST00000302541.6	37	CCDS2689.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.416632	0.42918	0.0	1.16E-4	ENSG00000170011	ENST00000444716;ENST00000302541;ENST00000425621;ENST00000396217;ENST00000539167	T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58	4.56	2.65	0.31530	Myelin-associated oligodendrocytic basic protein (MOBP) (1);	2.435180	0.01566	N	0.020350	T	0.38612	0.1047	N	0.24115	0.695	0.09310	N	1	D;P;P	0.71674	0.998;0.876;0.938	P;B;P	0.57244	0.816;0.311;0.448	T	0.33854	-0.9852	9	.	.	.	.	9.6442	0.39857	0.3937:0.6063:0.0:0.0	.	196;285;285	Q32M42;G3XAI8;Q8NFW9	.;.;MYRIP_HUMAN	C	285;285;285;196;98	ENSP00000398665:R285C;ENSP00000301972:R285C;ENSP00000389323:R285C;ENSP00000379519:R196C;ENSP00000438297:R98C	.	R	+	1	0	MYRIP	40186568	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.057000	0.14279	0.407000	0.25591	-0.314000	0.08810	CGT		0.587	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254181.2	NM_015460		T	40211564	C	T	40211564	3	4	748	1	0	0	0	0	1	0	0	0	10102	652	23	1	879	1	MYRIP	3	40211564	Missense_Mutation	SNP	C	TCGA-KO-8407-01A-11D-2310-10	2171078	40211564	157810866	13	43854											
ASTE1	28990	mdanderson.org;bcgsc.ca	37	3	130743262	130743262	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr3:130743262C>T	ENST00000264992.3	-	3	1330	c.889G>A	c.(889-891)Gaa>Aaa	p.E297K	NEK11_ENST00000356918.4_5'Flank|ASTE1_ENST00000514044.1_Missense_Mutation_p.E297K|NEK11_ENST00000429253.2_5'Flank|NEK11_ENST00000383366.4_5'Flank|NEK11_ENST00000412440.2_5'Flank|NEK11_ENST00000510688.1_5'Flank|NEK11_ENST00000511262.1_5'Flank|NEK11_ENST00000510769.1_5'Flank	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	297					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						TGGTATTCTTCCATGGAACAG	0.428																																																0													143	139	140					3																	130743262		2203	4300	6503	SO:0001583	missense	28990			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.889G>A	3.37:g.130743262C>T	ENSP00000264992:p.Glu297Lys		B4DFL9|Q3MIB6|Q8N6G4|Q96JY1|Q9UHX6	Missense_Mutation	SNP	ENST00000264992.3	37	CCDS3068.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.02|15.02	2.709772|2.709772	0.48517|0.48517	.|.	.|.	ENSG00000034533|ENSG00000034533	ENST00000514044;ENST00000264992;ENST00000446270|ENST00000505290	.|.	.|.	.|.	5.64|5.64	3.82|3.82	0.43975|0.43975	.|.	0.242923|.	0.48286|.	N|.	0.000197|.	T|.	0.60170|.	0.2248|.	L|L	0.53249|0.53249	1.67|1.67	0.40900|0.40900	D|D	0.984147|0.984147	P;B|.	0.37061|.	0.58;0.426|.	B;B|.	0.37550|.	0.253;0.187|.	T|.	0.57142|.	-0.7862|.	9|.	0.22109|.	T|.	0.4|.	-7.5697|-7.5697	10.9797|10.9797	0.47486|0.47486	0.0:0.7994:0.1301:0.0705|0.0:0.7994:0.1301:0.0705	.|.	297;297|.	D6RG30;Q2TB18|.	.;ASTE1_HUMAN|.	K|X	297|11	.|.	ENSP00000264992:E297K|.	E|W	-|-	1|3	0|0	ASTE1|ASTE1	132225952|132225952	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.964000|0.964000	0.63967|0.63967	1.683000|1.683000	0.37638|0.37638	0.718000|0.718000	0.32166|0.32166	-0.258000|-0.258000	0.10820|0.10820	GAA|TGG		0.428	ASTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356659.1	NM_014065		T	130743262	C	T	130743262	3	4	748	1	0	0	0	0	1	0	0	0	1062	864	30	2	1166	2	ASTE1	3	130743262	Missense_Mutation	SNP	C	TCGA-KO-8407-01A-11D-2310-10	90531698	130743262	67279168	14	43855											
CCNL1	57018	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	3	156866283	156866283	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr3:156866283T>C	ENST00000295926.3	-	11	1446	c.1328A>G	c.(1327-1329)cAt>cGt	p.H443R	CCNL1_ENST00000461804.1_Intron|CCNL1_ENST00000479052.1_5'Flank	NM_020307.2	NP_064703.1	Q9UK58	CCNL1_HUMAN	cyclin L1	443					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)|nucleus (GO:0005634)				NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			AGGAGAACCATGATTATGATG	0.433																																																0													191	192	192					3																	156866283		2203	4300	6503	SO:0001583	missense	57018			AF180920	CCDS3178.1	3q25.31	2008-02-05			ENSG00000163660	ENSG00000163660			20569	protein-coding gene	gene with protein product		613384				11980906	Standard	NM_020307		Approved	ania-6a	uc003fbf.3	Q9UK58	OTTHUMG00000158713	ENST00000295926.3:c.1328A>G	3.37:g.156866283T>C	ENSP00000295926:p.His443Arg		B3KMY3|Q6NVY9|Q6UWS7|Q8NI48|Q96QT0|Q9NZF3	Missense_Mutation	SNP	ENST00000295926.3	37	CCDS3178.1	.	.	.	.	.	.	.	.	.	.	T	13.52	2.260717	0.39995	.	.	ENSG00000163660	ENST00000295926	T	0.17854	2.25	5.0	5.0	0.66597	.	0.048329	0.85682	D	0.000000	T	0.13243	0.0321	N	0.21373	0.66	0.80722	D	1	P	0.37466	0.596	B	0.37888	0.26	T	0.13980	-1.0489	10	0.23891	T	0.37	-14.4614	15.0209	0.71630	0.0:0.0:0.0:1.0	.	443	Q9UK58	CCNL1_HUMAN	R	443	ENSP00000295926:H443R	ENSP00000295926:H443R	H	-	2	0	CCNL1	158348977	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.079000	0.64431	1.993000	0.58246	0.455000	0.32223	CAT		0.433	CCNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351859.1	NM_020307		C	156866283	T	C	156866283	3	2	748	1	0	0	0	0	1	0	0	0	2933	1464	51	3	256	3	CCNL1	3	156866283	Missense_Mutation	SNP	T	TCGA-KO-8407-01A-11D-2310-10	26123021	156866283	41156147	15	43856											
DCUN1D4	23142	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	4	52779712	52779712	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr4:52779712G>A	ENST00000334635.5	+	11	1021	c.841G>A	c.(841-843)Gag>Aag	p.E281K	DCUN1D4_ENST00000381441.3_Missense_Mutation_p.E246K|DCUN1D4_ENST00000381437.4_Missense_Mutation_p.E221K|DCUN1D4_ENST00000451288.2_Missense_Mutation_p.E325K	NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 4	281	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)			TTTGTTGGACGAGTTTGTGGA	0.373																																																0													101	99	100					4																	52779712		2203	4300	6503	SO:0001583	missense	23142			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.841G>A	4.37:g.52779712G>A	ENSP00000334625:p.Glu281Lys		B4DH25|Q7Z3F3|Q7Z6B8	Missense_Mutation	SNP	ENST00000334635.5	37	CCDS33982.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.992205	0.93167	.	.	ENSG00000109184	ENST00000334635;ENST00000381441;ENST00000381437;ENST00000451288;ENST00000510808	.	.	.	6.02	6.02	0.97574	Domain of unknown function DUF298 (2);	0.000000	0.85682	D	0.000000	D	0.87597	0.6217	H	0.94423	3.535	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.99;0.995;0.993	D	0.89852	0.4010	9	0.72032	D	0.01	-18.733	19.5352	0.95251	0.0:0.0:1.0:0.0	.	325;246;281	B4DH25;Q92564-2;Q92564	.;.;DCNL4_HUMAN	K	281;246;221;325;91	.	ENSP00000334625:E281K	E	+	1	0	DCUN1D4	52474469	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	2.850000	0.98022	0.650000	0.86243	GAG		0.373	DCUN1D4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250599.2	NM_015115		A	52779712	G	A	52779712	3	1	748	1	0	0	0	0	1	0	0	0	4318	1059	37	1	883	1	DCUN1D4	4	52779712	Missense_Mutation	SNP	G	TCGA-KO-8407-01A-11D-2310-10		52779712	138374564	16	43857											
DNAH5	1767	broad.mit.edu;mdanderson.org;bcgsc.ca	37	5	13708238	13708238	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr5:13708238C>T	ENST00000265104.4	-	76	13436	c.13332G>A	c.(13330-13332)tgG>tgA	p.W4444*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4444					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)					GTACTTTTTTCCACCAAGCAG	0.403									Kartagener syndrome																																							0													175	162	166					5																	13708238		2203	4300	6503	SO:0001587	stop_gained	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.13332G>A	5.37:g.13708238C>T	ENSP00000265104:p.Trp4444*		Q92860|Q96L74|Q9H5S7|Q9HCG9	Nonsense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	55	24.226362	0.99959	.	.	ENSG00000039139	ENST00000265104	.	.	.	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.8429	0.92192	0.0:1.0:0.0:0.0	.	.	.	.	X	4444	.	ENSP00000265104:W4444X	W	-	3	0	DNAH5	13761238	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.642000	0.83385	2.521000	0.84997	0.655000	0.94253	TGG		0.403	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		T	13708238	C	T	13708238	4	4	748	1	0	0	0	0	0	1	0	0	4606	856	30	2	558	2	DNAH5	5	13708238	Nonsense_Mutation	SNP	C	TCGA-KO-8407-01A-11D-2310-10		13708238	167207022	17	43858											
THBS4	7060	broad.mit.edu	37	5	79331430	79331431	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr5:79331430_79331431insC	ENST00000350881.2	+	1	260_261	c.70_71insC	c.(70-72)gccfs	p.A24fs	THBS4_ENST00000511733.1_5'Flank	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	24					behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		AGCGGCAGGCGCCCAGGCCACC	0.738																																																0																																										SO:0001589	frameshift_variant	7060				CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.73dupC	5.37:g.79331433_79331433dupC	ENSP00000339730:p.Ala24fs		B2R909|Q86TG2	Frame_Shift_Ins	INS	ENST00000350881.2	37	CCDS4049.1																																																																																				0.738	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1			C	79331431	-	C	79331430	7	5	748	1	0	1	1	0	0	0	0	0	15861	1087	38	0	72	0	THBS4	5	79331430	Frame_Shift_Ins	INS	-	TCGA-KO-8407-01A-11D-2310-10	65623192	79331430	101583830	18	43859											
PCDHA8	56140	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	5	140222358	140222358	+	Silent	SNP	G	G	A			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr5:140222358G>A	ENST00000531613.1	+	1	1452	c.1452G>A	c.(1450-1452)gcG>gcA	p.A484A	PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000378123.3_Silent_p.A484A|PCDHA4_ENST00000512229.2_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	484	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)|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)			ACGCGGACGCGCAGGAGAACG	0.657																																																0													49	55	53					5																	140222358		2195	4261	6456	SO:0001819	synonymous_variant	56140			AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"Cadherins / Protocadherins : Clustered"	8674	other	complex locus constituent	"KIAA0345-like 6"	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1452G>A	5.37:g.140222358G>A			B9EGT7|O75281	Silent	SNP	ENST00000531613.1	37	CCDS54919.1																																																																																				0.657	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		A	140222358	G	A	140222358	2	1	748	1	0	0	0	0	0	0	0	1	11532	1074	38	1		1	PCDHA8	5	140222358	Silent	SNP	G	TCGA-KO-8407-01A-11D-2310-10	60890928	140222358	40692902	19	43860											
RANBP9	10048	broad.mit.edu	37	6	13638047	13638047	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr6:13638047A>G	ENST00000011619.3	-	10	1724	c.1666T>C	c.(1666-1668)Ttc>Ctc	p.F556L	RANBP9_ENST00000539980.1_Missense_Mutation_p.F327L	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	556					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)			TACCTGGTGAAGTTATTAACT	0.313																																																0													192	187	188					6																	13638047		2202	4300	6502	SO:0001583	missense	10048			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.1666T>C	6.37:g.13638047A>G	ENSP00000011619:p.Phe556Leu		A0PJA2|B2R8E1|O94764|Q6P3T7|Q7LBR2|Q7Z7F9	Missense_Mutation	SNP	ENST00000011619.3	37	CCDS4529.1	.	.	.	.	.	.	.	.	.	.	A	12.69	2.013244	0.35511	.	.	ENSG00000010017	ENST00000011619;ENST00000539980	T	0.76448	-1.02	5.96	5.96	0.96718	.	0.306271	0.39909	N	0.001223	T	0.58595	0.2133	L	0.33485	1.01	0.46222	D	0.99893	B	0.31125	0.309	B	0.37550	0.253	T	0.60490	-0.7253	10	0.11794	T	0.64	-11.6893	16.4221	0.83766	1.0:0.0:0.0:0.0	.	556	Q96S59	RANB9_HUMAN	L	556;327	ENSP00000011619:F556L	ENSP00000011619:F556L	F	-	1	0	RANBP9	13746026	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.778000	0.75043	2.283000	0.76528	0.477000	0.44152	TTC		0.313	RANBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042373.1			G	13638047	A	G	13638047	3	3	748	1	0	0	0	0	1	0	0	0	13038	72	3	3	543	3	RANBP9	6	13638047	Missense_Mutation	SNP	A	TCGA-KO-8407-01A-11D-2310-10		13638047	157477020	20	43861											
HLA-C	3107	mdanderson.org	37	6	31238866	31238866	+	Missense_Mutation	SNP	C	C	G	rs17413678	byFrequency	TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr6:31238866C>G	ENST00000376228.5	-	3	617	c.603G>C	c.(601-603)gaG>gaC	p.E201D	HLA-C_ENST00000383329.3_Missense_Mutation_p.E201D	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	201	Alpha-2.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	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						GCTGCAGCGTCTCCTTCCCGT	0.657																																																0													53	45	48					6																	31238866		2203	4299	6502	SO:0001583	missense	3107			M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4933	protein-coding gene	gene with protein product		142840	"psoriasis susceptibility 1"	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.603G>C	6.37:g.31238866C>G	ENSP00000365402:p.Glu201Asp		O02864|O02958|Q29643|Q9MY30	Missense_Mutation	SNP	ENST00000376228.5	37	CCDS34393.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	8.944|8.944	0.966650|0.966650	0.18659|0.18659	.|.	.|.	ENSG00000204525|ENSG00000204525	ENST00000415537|ENST00000376228;ENST00000383329;ENST00000396254;ENST00000539307	.|T;T	.|0.00824	.|5.65;5.65	2.55|2.55	0.453|0.453	0.16639|0.16639	.|MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.|1.613380	.|0.04968	.|N	.|0.463348	T|T	0.00109|0.00109	0.0003|0.0003	N|N	0.00058|0.00058	-2.35|-2.35	0.22226|0.22226	N|N	0.999278|0.999278	.|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|T	0.48163|0.48163	-0.9059|-0.9059	5|10	.|0.72032	.|D	.|0.01	.|.	10.0479|10.0479	0.42197|0.42197	0.0:0.3625:0.6374:0.0|0.0:0.3625:0.6374:0.0	rs41549320|rs41549320	.|201;201;201;201	.|A2AEA4;A6H578;A2AEA2;P10321	.|.;.;.;1C07_HUMAN	H|D	201|201;201;201;238	.|ENSP00000365402:E201D;ENSP00000372819:E201D	.|ENSP00000365402:E201D	D|E	-|-	1|3	0|2	HLA-C|HLA-C	31346845|31346845	0.000000|0.000000	0.05858|0.05858	0.895000|0.895000	0.35142|0.35142	0.078000|0.078000	0.17371|0.17371	-3.936000|-3.936000	0.00330|0.00330	0.101000|0.101000	0.17610|0.17610	0.305000|0.305000	0.20034|0.20034	GAC|GAG		0.657	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076281.3	NM_002117		G	31238866	C	G	31238866	3	3	748	1	0	0	0	0	1	0	0	0	7199	912	32	4	521	4	HLA-C	6	31238866	Missense_Mutation	SNP	C	TCGA-KO-8407-01A-11D-2310-10	17600819	31238866	139876201	21	43862											
COL12A1	1303	broad.mit.edu;mdanderson.org	37	6	75843574	75843574	+	Splice_Site	SNP	C	C	A			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr6:75843574C>A	ENST00000322507.8	-	33	5973	c.5664G>T	c.(5662-5664)ctG>ctT	p.L1888L	COL12A1_ENST00000345356.6_Splice_Site_p.L724L|COL12A1_ENST00000416123.2_Splice_Site_p.L1888L|COL12A1_ENST00000483888.2_Splice_Site_p.L1888L	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1888	Fibronectin type-III 14. {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						AAATAATTACCAGTTCCTCTG	0.433																																																0													85	82	83					6																	75843574		1872	4110	5982	SO:0001630	splice_region_variant	1303			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens", "Fibronectin type III domain containing"	2188	protein-coding gene	gene with protein product	"collagen type XII proteoglycan"	120320	"collagen, type XII, alpha 1-like"	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.5664+1G>T	6.37:g.75843574C>A			O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Silent	SNP	ENST00000322507.8	37	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.545989	0.45383	.	.	ENSG00000111799	ENST00000419671	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	T	0.71970	0.3403	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68762	-0.5323	4	.	.	.	.	20.1772	0.98182	0.0:1.0:0.0:0.0	.	.	.	.	C	623	.	.	G	-	1	0	COL12A1	75900294	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	4.629000	0.61290	2.778000	0.95560	0.655000	0.94253	GGT		0.433	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370	Silent	A	75843574	C	A	75843574	5	1	748	1	0	0	0	0	0	0	1	0	3671	608	21	4	3663	4	COL12A1	6	75843574	Splice_Site	SNP	C	TCGA-KO-8407-01A-11D-2310-10	44604708	75843574	95271493	22	43863											
SYTL3	94120	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	6	159173001	159173001	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr6:159173001G>A	ENST00000297239.9	+	12	1270	c.1076G>A	c.(1075-1077)gGa>gAa	p.G359E	SYTL3_ENST00000360448.3_Missense_Mutation_p.G291E|SYTL3_ENST00000367081.3_Missense_Mutation_p.G85E			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	359	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	calcium-dependent phospholipid binding (GO:0005544)			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		TCCTCCCAGGGAAAGCGCAAG	0.552																																																0													80	68	72					6																	159173001		2203	4300	6503	SO:0001583	missense	94120			AK055750	CCDS34563.1, CCDS56458.1	6q25.3	2008-07-04			ENSG00000164674	ENSG00000164674			15587	protein-coding gene	gene with protein product						11773082	Standard	NM_001242384		Approved	SLP3, exophilin-6	uc003qrp.3	Q4VX76	OTTHUMG00000015916	ENST00000297239.9:c.1076G>A	6.37:g.159173001G>A	ENSP00000297239:p.Gly359Glu		Q496J4|Q496J6|Q5U3B9	Missense_Mutation	SNP	ENST00000297239.9	37	CCDS56458.1	.	.	.	.	.	.	.	.	.	.	G	17.84	3.487983	0.64074	.	.	ENSG00000164674	ENST00000360448;ENST00000543689;ENST00000297239;ENST00000367081	T;T;T	0.68331	-0.32;-0.32;-0.32	5.75	4.85	0.62838	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.261183	0.37012	N	0.002293	T	0.71728	0.3374	L	0.55481	1.735	0.21841	N	0.999516	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.85130	0.993;0.997;0.994	T	0.65429	-0.6170	10	0.87932	D	0	.	15.2148	0.73258	0.0:0.2629:0.7371:0.0	.	85;359;291	F8W7H4;Q4VX76;Q4VX76-2	.;SYTL3_HUMAN;.	E	291;359;359;85	ENSP00000353631:G291E;ENSP00000297239:G359E;ENSP00000356048:G85E	ENSP00000297239:G359E	G	+	2	0	SYTL3	159092989	1.000000	0.71417	0.170000	0.22879	0.398000	0.30690	4.854000	0.62918	2.716000	0.92895	0.655000	0.94253	GGA		0.552	SYTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042876.1			A	159173001	G	A	159173001	3	1	748	1	0	0	0	0	1	0	0	0	15489	1174	41	2	902	2	SYTL3	6	159173001	Missense_Mutation	SNP	G	TCGA-KO-8407-01A-11D-2310-10	83329427	159173001	11942066	23	43864	438	2									
SYTL3	94120	hgsc.bcm.edu;ucsc.edu	37	6	159173011	159173011	+	Silent	SNP	G	G	A			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr6:159173011G>A	ENST00000297239.9	+	12	1280	c.1086G>A	c.(1084-1086)aaG>aaA	p.K362K	SYTL3_ENST00000360448.3_Silent_p.K294K|SYTL3_ENST00000367081.3_Silent_p.K88K			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	362	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	calcium-dependent phospholipid binding (GO:0005544)			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		GAAAGCGCAAGACTGGAGTCC	0.572																																																0													81	68	72					6																	159173011		2203	4300	6503	SO:0001819	synonymous_variant	94120			AK055750	CCDS34563.1, CCDS56458.1	6q25.3	2008-07-04			ENSG00000164674	ENSG00000164674			15587	protein-coding gene	gene with protein product						11773082	Standard	NM_001242384		Approved	SLP3, exophilin-6	uc003qrp.3	Q4VX76	OTTHUMG00000015916	ENST00000297239.9:c.1086G>A	6.37:g.159173011G>A			Q496J4|Q496J6|Q5U3B9	Silent	SNP	ENST00000297239.9	37	CCDS56458.1																																																																																				0.572	SYTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042876.1			A	159173011	G	A	159173011	2	1	748	1	0	0	0	0	0	0	0	1	15489	933	33	2		2	SYTL3	6	159173011	Silent	SNP	G	TCGA-KO-8407-01A-11D-2310-10	10	159173011	11942056	24	43865	438	2									
ISPD	729920	broad.mit.edu	37	7	16341081	16341081	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr7:16341081T>C	ENST00000407010.2	-	5	799	c.800A>G	c.(799-801)aAa>aGa	p.K267R	ISPD_ENST00000399310.3_Missense_Mutation_p.K217R|ISPD_ENST00000479493.1_5'UTR	NM_001101426.3	NP_001094896.1	A4D126	ISPD_HUMAN	isoprenoid synthase domain containing	267					axon guidance (GO:0007411)|isoprenoid biosynthetic process (GO:0008299)|protein O-linked mannosylation (GO:0035269)		nucleotidyltransferase activity (GO:0016779)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9						GAGATCTCGTTTGTAGGTCAC	0.388										Multiple Myeloma(15;0.18)																																						0													88	80	82					7																	16341081		1856	4101	5957	SO:0001583	missense	729920			AK124805		7p21.2	2010-03-19			ENSG00000214960	ENSG00000214960			37276	protein-coding gene	gene with protein product	"notch1-induced protein", "4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolog (Arabidopsis)"	614631				11181995	Standard	NM_001101417		Approved	hCG_1745121, IspD, Nip	uc010ktx.2	A4D126	OTTHUMG00000152447	ENST00000407010.2:c.800A>G	7.37:g.16341081T>C	ENSP00000385478:p.Lys267Arg		A8MU35|H9KVB2	Missense_Mutation	SNP	ENST00000407010.2	37		.	.	.	.	.	.	.	.	.	.	T	13.82	2.350427	0.41599	.	.	ENSG00000214960	ENST00000407010;ENST00000399310	D;D	0.85484	-1.99;-1.99	5.15	3.97	0.46021	4-diphosphocytidyl-2C-methyl-D-erythritol synthase (1);	0.199344	0.40554	U	0.001079	T	0.72078	0.3416	N	0.12471	0.22	0.40186	D	0.977343	B	0.24618	0.107	B	0.32762	0.152	T	0.66044	-0.6021	10	0.12766	T	0.61	0.0762	11.4619	0.50215	0.0:0.0746:0.0:0.9254	.	267	A4D126	ISPD_HUMAN	R	267;217	ENSP00000385478:K267R;ENSP00000382249:K217R	ENSP00000382249:K217R	K	-	2	0	ISPD	16307606	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.956000	0.49129	2.064000	0.61679	0.533000	0.62120	AAA		0.388	ISPD-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000326252.4	NM_001101426		C	16341081	T	C	16341081	3	2	748	1	0	0	0	0	1	0	0	0	7866	1841	64	3	579	3	ISPD	7	16341081	Missense_Mutation	SNP	T	TCGA-KO-8407-01A-11D-2310-10		16341081	142797582	25	43866											
PEX1	5189	bcgsc.ca	37	7	92116845	92116845	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr7:92116845A>G	ENST00000248633.4	-	24	3873	c.3778T>C	c.(3778-3780)Ttt>Ctt	p.F1260L	AC007566.10_ENST00000441539.1_RNA|PEX1_ENST00000438045.1_Missense_Mutation_p.F938L|PEX1_ENST00000428214.1_Missense_Mutation_p.F1203L|AC007566.10_ENST00000427458.1_RNA	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	1260					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)			GGATTTTGAAAGCTTTCATAT	0.269																																																0													64	68	66					7																	92116845		2201	4287	6488	SO:0001583	missense	5189			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.3778T>C	7.37:g.92116845A>G	ENSP00000248633:p.Phe1260Leu		A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Missense_Mutation	SNP	ENST00000248633.4	37	CCDS5627.1	.	.	.	.	.	.	.	.	.	.	A	26.8	4.770896	0.90108	.	.	ENSG00000127980	ENST00000438045;ENST00000248633;ENST00000428214	D;D;D	0.98120	-4.38;-4.73;-4.32	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.98277	0.9429	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.997	D;D;D	0.83275	0.996;0.985;0.985	D	0.99198	1.0872	10	0.87932	D	0	-21.3596	13.566	0.61819	1.0:0.0:0.0:0.0	.	938;1052;1260	E9PE75;B4DER6;O43933	.;.;PEX1_HUMAN	L	938;1260;1203	ENSP00000410438:F938L;ENSP00000248633:F1260L;ENSP00000394413:F1203L	ENSP00000248633:F1260L	F	-	1	0	PEX1	91954781	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.853000	0.75435	2.216000	0.71823	0.528000	0.53228	TTT		0.269	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	NM_000466		G	92116845	A	G	92116845	3	3	748	1	0	0	0	0	1	0	0	0	11737	72	3	3	77	3	PEX1	7	92116845	Missense_Mutation	SNP	A	TCGA-KO-8407-01A-11D-2310-10	75775764	92116845	67021818	26	43867											
ZAN	7455	broad.mit.edu;mdanderson.org;bcgsc.ca	37	7	100390083	100390083	+	RNA	SNP	G	G	A	rs376796357		TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr7:100390083G>A	ENST00000348028.3	+	0	7933				ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_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)			GAGGAGCTGCGTTGCCAGGTC	0.667																																																0								G	HIS/ARG,HIS/ARG	1,4205		0,1,2102	43	45	44		7768,7768	3.4	1	7		44	0,8440		0,0,4220	no	missense,missense	ZAN	NM_003386.1,NM_173059.1	29,29	0,1,6322	AA,AG,GG		0.0,0.0238,0.0079	probably-damaging,probably-damaging	2590/2813,2590/2722	100390083	1,12645	2103	4220	6323			7455			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100390083G>A			A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	ENST00000348028.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.156|8.156	0.788519|0.788519	0.16258|0.16258	2.38E-4|2.38E-4	0.0|0.0	ENSG00000146839|ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585|ENST00000546213	T;T;T|T	0.76968|0.24350	-1.06;-1.06;-1.06|1.86	3.39|3.39	3.39|3.39	0.38822|0.38822	Uncharacterised domain, cysteine-rich (2);|.	0.253625|.	0.20874|.	N|.	0.084101|.	T|T	0.13200|0.13200	0.0320|0.0320	N|N	0.08118|0.08118	0|0	0.20873|0.20873	N|N	0.999835|0.999835	D;D|B	0.89917|0.30482	1.0;1.0|0.281	D;D|B	0.81914|0.21917	0.992;0.995|0.037	T|T	0.12319|0.12319	-1.0552|-1.0552	10|9	0.62326|0.87932	D|D	0.03|0	.|.	10.585|10.585	0.45278|0.45278	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2589;2590|1006	F5H0T8;Q9Y493|F5GX59	.;ZAN_HUMAN|.	H|I	2589|1006	ENSP00000445943:R2589H;ENSP00000445091:R2589H;ENSP00000444427:R2589H|ENSP00000441117:V1006I	ENSP00000445091:R2589H|ENSP00000423579:V2590I	R|V	+|+	2|1	0|0	ZAN|ZAN	100228019|100228019	0.670000|0.670000	0.27512|0.27512	0.971000|0.971000	0.41717|0.41717	0.431000|0.431000	0.31685|0.31685	2.708000|2.708000	0.47152|0.47152	2.206000|2.206000	0.71126|0.71126	0.561000|0.561000	0.74099|0.74099	CGT|GTT		0.667	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		A	100390083	G	A	100390083	1	1	748	0	1	0	0	0	0	0	0	0	17518	1145	40	1		1	ZAN	7	100390083	RNA	SNP	G	TCGA-KO-8407-01A-11D-2310-10	8273238	100390083	58748580	27	43868											
SPAM1	6677	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	7	123594255	123594255	+	Missense_Mutation	SNP	C	C	T	rs377689190		TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr7:123594255C>T	ENST00000439500.1	+	4	1244	c.631C>T	c.(631-633)Cgg>Tgg	p.R211W	SPAM1_ENST00000402183.2_Missense_Mutation_p.R211W|SPAM1_ENST00000223028.7_Missense_Mutation_p.R211W|SPAM1_ENST00000460182.1_Missense_Mutation_p.R211W|SPAM1_ENST00000340011.5_Missense_Mutation_p.R211W	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)	211					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.R211W(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						AAAATTACTTCGGCCAAATCA	0.378																																																2	Substitution - Missense(2)	lung(2)						C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	77	83	81		631,631,631,631,631	-1	0	7		81	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,missense,missense,missense	SPAM1	NM_001174044.1,NM_001174045.1,NM_001174046.1,NM_003117.4,NM_153189.2	101,101,101,101,101	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	211/510,211/510,211/510,211/512,211/510	123594255	1,13003	2203	4299	6502	SO:0001583	missense	6677			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.631C>T	7.37:g.123594255C>T	ENSP00000402123:p.Arg211Trp		Q8TC30	Missense_Mutation	SNP	ENST00000439500.1	37	CCDS5791.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.605065	0.66445	0.0	1.16E-4	ENSG00000106304	ENST00000402183;ENST00000460182;ENST00000340011;ENST00000439500;ENST00000223028	T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93	6.17	-0.96	0.10340	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.204215	0.42548	D	0.000688	T	0.74861	0.3772	H	0.96547	3.84	0.21290	N	0.999731	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.77038	-0.2736	9	.	.	.	-26.04	20.5191	0.99215	0.8136:0.1864:0.0:0.0	.	211;211	Q8TC30;P38567	.;HYALP_HUMAN	W	211	ENSP00000386028:R211W;ENSP00000417934:R211W;ENSP00000345849:R211W;ENSP00000402123:R211W;ENSP00000223028:R211W	.	R	+	1	2	SPAM1	123381491	0.007000	0.16637	0.022000	0.16811	0.934000	0.57294	0.147000	0.16202	-0.161000	0.10983	0.655000	0.94253	CGG		0.378	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348309.1			T	123594255	C	T	123594255	3	4	748	1	0	0	0	0	1	0	0	0	14992	875	31	1	633	1	SPAM1	7	123594255	Missense_Mutation	SNP	C	TCGA-KO-8407-01A-11D-2310-10	23204172	123594255	35544408	28	43869											
NCAPG2	54892	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	7	158485614	158485614	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr7:158485614G>A	ENST00000409423.1	-	5	474	c.302C>T	c.(301-303)tCt>tTt	p.S101F	NCAPG2_ENST00000449727.2_Missense_Mutation_p.S101F|NCAPG2_ENST00000356309.3_Missense_Mutation_p.S101F|NCAPG2_ENST00000409339.3_Missense_Mutation_p.S101F|NCAPG2_ENST00000479022.1_5'Flank	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	101					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)		AAGAATCACAGATGTAATTGC	0.279																																																0													117	113	114					7																	158485614		1813	4066	5879	SO:0001583	missense	54892			BC043404	CCDS43686.1, CCDS64816.1	7q36.3	2006-09-04	2006-09-04	2006-09-04	ENSG00000146918	ENSG00000146918			21904	protein-coding gene	gene with protein product		608532	"leucine zipper protein 5"	LUZP5		14532007	Standard	NM_001281933		Approved	FLJ20311, MTB, CAP-G2, hCAP-G2	uc003wnv.1	Q86XI2	OTTHUMG00000151438	ENST00000409423.1:c.302C>T	7.37:g.158485614G>A	ENSP00000386569:p.Ser101Phe		A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Missense_Mutation	SNP	ENST00000409423.1	37	CCDS43686.1	.	.	.	.	.	.	.	.	.	.	G	4.849	0.157781	0.09236	.	.	ENSG00000146918	ENST00000356309;ENST00000409423;ENST00000409339;ENST00000449727	T;T;T;T	0.32515	1.46;1.46;1.45;1.45	5.41	3.47	0.39725	Armadillo-type fold (1);	0.551643	0.21031	N	0.081352	T	0.22781	0.0550	L	0.44542	1.39	0.25303	N	0.989266	B;B	0.28584	0.216;0.138	B;B	0.26969	0.075;0.012	T	0.14980	-1.0453	10	0.10377	T	0.69	-15.4578	11.8548	0.52431	0.0:0.1316:0.7322:0.1361	.	101;101	Q86XI2-2;Q86XI2	.;CNDG2_HUMAN	F	101	ENSP00000348657:S101F;ENSP00000386569:S101F;ENSP00000387007:S101F;ENSP00000388326:S101F	ENSP00000348657:S101F	S	-	2	0	NCAPG2	158178375	0.998000	0.40836	0.980000	0.43619	0.637000	0.38172	2.751000	0.47508	1.400000	0.46741	0.484000	0.47621	TCT		0.279	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327111.1	NM_017760		A	158485614	G	A	158485614	3	1	748	1	0	0	0	0	1	0	0	0	10210	942	33	2	3229	2	NCAPG2	7	158485614	Missense_Mutation	SNP	G	TCGA-KO-8407-01A-11D-2310-10	34891359	158485614	653049	29	43870											
GGH	8836	mdanderson.org	37	8	63951312	63951312	+	Missense_Mutation	SNP	A	A	G	rs1800909	byFrequency	TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr8:63951312A>G	ENST00000260118.6	-	1	418	c.16T>C	c.(16-18)Tgc>Cgc	p.C6R		NM_003878.2	NP_003869.1	Q92820	GGH_HUMAN	gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)	6			C -> R (in dbSNP:rs1800909).		glutamine metabolic process (GO:0006541)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to insulin (GO:0032868)|response to zinc ion (GO:0010043)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	exopeptidase activity (GO:0008238)|gamma-glutamyl-peptidase activity (GO:0034722)|omega peptidase activity (GO:0008242)			breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1)	11	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)			Folic Acid(DB00158)|Methotrexate(DB00563)	CACAGCAGGCAGCCCGGACTG	0.716													G|||	1161	0.231829	0.1672	0.2277	5008	,	,		10294	0.2192		0.2793	False		,,,				2504	0.2863															0								G	ARG/CYS	752,3574		76,600,1487	10	10	10		16	1.1	0	8	dbSNP_89	10	2198,6302		290,1618,2342	no	missense	GGH	NM_003878.2	180	366,2218,3829	GG,GA,AA		25.8588,17.3833,23.0002	benign	6/319	63951312	2950,9876	2163	4250	6413	SO:0001583	missense	8836			U55206	CCDS6177.1	8q12.3	2008-02-05			ENSG00000137563	ENSG00000137563	3.4.19.9		4248	protein-coding gene	gene with protein product		601509				8816764, 10570974	Standard	NM_003878		Approved		uc003xuw.3	Q92820	OTTHUMG00000164365	ENST00000260118.6:c.16T>C	8.37:g.63951312A>G	ENSP00000260118:p.Cys6Arg			Missense_Mutation	SNP	ENST00000260118.6	37	CCDS6177.1	512	0.23443223443223443	88	0.17886178861788618	83	0.2292817679558011	127	0.22202797202797203	214	0.28232189973614774	G	6.061	0.379536	0.11466	0.173833	0.258588	ENSG00000137563	ENST00000260118	T	0.21191	2.02	4.12	1.06	0.20224	.	1.412970	0.04201	N	0.329979	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.42258	-0.9462	9	0.24483	T	0.36	-3.9473	1.5309	0.02535	0.1969:0.1633:0.4721:0.1677	rs1800909	6	Q92820	GGH_HUMAN	R	6	ENSP00000260118:C6R	ENSP00000260118:C6R	C	-	1	0	GGH	64113866	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.797000	0.26999	-0.133000	0.11537	-0.684000	0.03749	TGC		0.716	GGH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378453.1			G	63951312	A	G	63951312	3	3	748	1	0	0	0	0	1	0	0	0	6359	188	7	3	976	3	GGH	8	63951312	Missense_Mutation	SNP	A	TCGA-KO-8407-01A-11D-2310-10		63951312	82412710	30	43871											
WWP1	11059	broad.mit.edu	37	8	87414376	87414376	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr8:87414376delG	ENST00000517970.1	+	8	975	c.668delG	c.(667-669)agafs	p.R223fs	WWP1_ENST00000349423.2_Intron|WWP1_ENST00000341922.2_Intron|WWP1_ENST00000265428.4_Frame_Shift_Del_p.R223fs	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	223					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						GTTGCTGCCAGACCCAAAAAT	0.443																																																0													105	89	94					8																	87414376		2203	4300	6503	SO:0001589	frameshift_variant	11059			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.668delG	8.37:g.87414376delG	ENSP00000427793:p.Arg223fs		O00307|Q5YLC1|Q96BP4	Frame_Shift_Del	DEL	ENST00000517970.1	37	CCDS6242.1																																																																																				0.443	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374755.1	NM_007013		-	87414376	G	-	87414376	7	5	748	1	0	1	0	1	0	0	0	0	17420	942	33	0	690	0	WWP1	8	87414376	Frame_Shift_Del	DEL	G	TCGA-KO-8407-01A-11D-2310-10	23463064	87414376	58949646	31	43872											
LRRC6	23639	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	8	133673863	133673863	+	Missense_Mutation	SNP	A	A	T			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr8:133673863A>T	ENST00000519595.1	-	2	119	c.21T>A	c.(19-21)gaT>gaA	p.D7E	LRRC6_ENST00000250173.1_Missense_Mutation_p.D7E|LRRC6_ENST00000520446.1_5'UTR|LRRC6_ENST00000518642.1_Missense_Mutation_p.D7E			Q86X45	TILB_HUMAN	leucine rich repeat containing 6	7					cilium movement (GO:0003341)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|inner dynein arm assembly (GO:0036159)|male gonad development (GO:0008584)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|reproductive system development (GO:0061458)|sperm motility (GO:0030317)	cilium (GO:0005929)|cytoplasm (GO:0005737)				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GTCTAATAAGATCTTCTGTGA	0.348																																																0													60	59	59					8																	133673863		2203	4300	6503	SO:0001583	missense	23639			U60666	CCDS6365.1	8q24	2013-02-22			ENSG00000129295	ENSG00000129295			16725	protein-coding gene	gene with protein product	"leucine rich testes protein"	614930				10775177, 23122586	Standard	NM_012472		Approved	TSLRP, LRTP, CILD19	uc003ytk.4	Q86X45	OTTHUMG00000164646	ENST00000519595.1:c.21T>A	8.37:g.133673863A>T	ENSP00000429791:p.Asp7Glu		Q13648|Q4G183	Missense_Mutation	SNP	ENST00000519595.1	37		.	.	.	.	.	.	.	.	.	.	A	11.10	1.539703	0.27563	.	.	ENSG00000129295	ENST00000519595;ENST00000518642;ENST00000250173;ENST00000395414	T;T;T	0.49720	0.77;0.77;0.77	5.91	-2.39	0.06602	.	0.044642	0.85682	D	0.000000	T	0.15998	0.0385	N	0.04043	-0.29	0.42148	D	0.991545	B	0.15719	0.014	B	0.18561	0.022	T	0.04915	-1.0918	10	0.16896	T	0.51	-25.756	2.1324	0.03754	0.5007:0.1192:0.2651:0.1149	.	7	Q86X45	LRRC6_HUMAN	E	7	ENSP00000429791:D7E;ENSP00000428610:D7E;ENSP00000250173:D7E	ENSP00000250173:D7E	D	-	3	2	LRRC6	133743045	0.048000	0.20356	0.995000	0.50966	0.958000	0.62258	-0.513000	0.06305	-0.077000	0.12752	0.533000	0.62120	GAT		0.348	LRRC6-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379578.1	NM_012472		T	133673863	A	T	133673863	3	4	748	1	0	0	0	0	1	0	0	0	9018	330	12	5	1423	5	LRRC6	8	133673863	Missense_Mutation	SNP	A	TCGA-KO-8407-01A-11D-2310-10	46259487	133673863	12690159	32	43873											
EIF2C2	27161	broad.mit.edu	37	8	141551316	141551316	+	Missense_Mutation	SNP	G	G	T			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr8:141551316G>T	ENST00000220592.5	-	15	2093	c.1981C>A	c.(1981-1983)Ccc>Acc	p.P661T	AGO2_ENST00000519980.1_Missense_Mutation_p.P661T	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	661	Piwi. {ECO:0000255|HAMAP-Rule:MF_03031}.				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)										ATGCGGGTGGGCTTGAAGCGC	0.612																																																0													110	86	94					8																	141551316		2200	4300	6500	SO:0001583	missense	27161			AF121255	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908		"Argonaute/PIWI family"	3263	protein-coding gene	gene with protein product	"argonaute 2"	606229	"eukaryotic translation initiation factor 2C, 2"	EIF2C2		10534406, 12906857	Standard	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	Q9UKV8	OTTHUMG00000164232	ENST00000220592.5:c.1981C>A	8.37:g.141551316G>T	ENSP00000220592:p.Pro661Thr		Q8TCZ5|Q8WV58|Q96ID1	Missense_Mutation	SNP	ENST00000220592.5	37	CCDS6380.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.988289	0.93106	.	.	ENSG00000123908	ENST00000220592;ENST00000519980	T;T	0.49432	0.78;0.78	5.36	5.36	0.76844	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	D	0.84079	0.5393	H	0.99675	4.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.91325	0.5085	10	0.72032	D	0.01	-18.2573	19.4371	0.94799	0.0:0.0:1.0:0.0	.	661;661	Q9UKV8-2;Q9UKV8	.;AGO2_HUMAN	T	661	ENSP00000220592:P661T;ENSP00000430176:P661T	ENSP00000220592:P661T	P	-	1	0	EIF2C2	141620498	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.774000	0.98992	2.642000	0.89623	0.650000	0.86243	CCC		0.612	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377866.4			T	141551316	G	T	141551316	3	4	748	1	0	0	0	0	1	0	0	0	5008	1203	42	4	618	4	EIF2C2	8	141551316	Missense_Mutation	SNP	G	TCGA-KO-8407-01A-11D-2310-10	7877453	141551316	4812706	33	43874											
FAM154A	158297	broad.mit.edu;mdanderson.org;bcgsc.ca	37	9	18941779	18941779	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr9:18941779C>T	ENST00000380534.4	-	3	556	c.277G>A	c.(277-279)Gtc>Atc	p.V93I	FAM154A_ENST00000542071.1_Intron|FAM154A_ENST00000380530.1_Intron	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	93										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)		TCACTCGGGACGAACTGGTCA	0.502																																																0													180	155	164					9																	18941779		2203	4300	6503	SO:0001583	missense	158297			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.277G>A	9.37:g.18941779C>T	ENSP00000369907:p.Val93Ile		Q5VY58	Missense_Mutation	SNP	ENST00000380534.4	37	CCDS6487.1	.	.	.	.	.	.	.	.	.	.	c	3.915	-0.019391	0.07634	.	.	ENSG00000155875	ENST00000380534	T	0.16897	2.31	5.83	-7.19	0.01500	.	0.944627	0.08746	N	0.899840	T	0.09423	0.0232	L	0.33245	0.995	0.32505	N	0.538404	B	0.24043	0.096	B	0.21151	0.033	T	0.31696	-0.9934	10	0.37606	T	0.19	-2.363	5.6389	0.17552	0.1061:0.1619:0.1047:0.6273	.	93	Q8IYX7	F154A_HUMAN	I	93	ENSP00000369907:V93I	ENSP00000369907:V93I	V	-	1	0	FAM154A	18931779	0.000000	0.05858	0.004000	0.12327	0.047000	0.14425	-2.446000	0.01010	-0.728000	0.04882	0.550000	0.68814	GTC		0.502	FAM154A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051811.1	NM_153707		T	18941779	C	T	18941779	3	4	748	1	0	0	0	0	1	0	0	0	5465	536	19	1	1155	1	FAM154A	9	18941779	Missense_Mutation	SNP	C	TCGA-KO-8407-01A-11D-2310-10		18941779	122271652	34	43875											
MAMDC4	158056	mdanderson.org	37	9	139752899	139752899	+	Missense_Mutation	SNP	T	T	G	rs2275156	byFrequency	TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr9:139752899T>G	ENST00000317446.2	+	22	2772	c.2722T>G	c.(2722-2724)Tgg>Ggg	p.W908G	MAMDC4_ENST00000445819.1_Missense_Mutation_p.W987G|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)		CCACCTGGCCTGGCCCGGCCT	0.692																																																0								T	GLY/TRP	3660,734		1569,522,106	27	35	32		2722	1.3	0.2	9	dbSNP_100	32	6268,2320		2351,1566,377	yes	missense	MAMDC4	NM_206920.2	184	3920,2088,483	GG,GT,TT		27.0144,16.7046,23.5249	possibly-damaging	908/1138	139752899	9928,3054	2197	4294	6491	SO:0001583	missense	158056			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.2722T>G	9.37:g.139752899T>G	ENSP00000319388:p.Trp908Gly			Missense_Mutation	SNP	ENST00000317446.2	37	CCDS7010.1	1541|1541	0.7055860805860806|0.7055860805860806	359|359	0.7296747967479674|0.7296747967479674	199|199	0.5497237569060773|0.5497237569060773	471|471	0.8234265734265734|0.8234265734265734	512|512	0.6754617414248021|0.6754617414248021	.|.	4.918|4.918	0.170594|0.170594	0.09391|0.09391	0.832954|0.832954	0.729856|0.729856	ENSG00000177943|ENSG00000177943	ENST00000413647|ENST00000317446;ENST00000445819	.|T;T	.|0.01725	.|4.67;4.67	5.05|5.05	1.29|1.29	0.21616|0.21616	.|Concanavalin A-like lectin/glucanase (1);MAM domain (3);	.|0.463995	.|0.19512	.|N	.|0.112484	T|T	0.00012|0.00012	0.0000|0.0000	M|M	0.63428|0.63428	1.95|1.95	0.46437|0.46437	P|P	9.510000000000352E-4|9.510000000000352E-4	.|B;P	.|0.40970	.|0.181;0.734	.|B;P	.|0.44696	.|0.287;0.458	T|T	0.23404|0.23404	-1.0189|-1.0189	4|9	.|0.10636	.|T	.|0.68	-9.2031|-9.2031	3.7674|3.7674	0.08627|0.08627	0.1504:0.2498:0.0:0.5998|0.1504:0.2498:0.0:0.5998	rs2275156;rs57694508|rs2275156;rs57694508	.|987;908	.|Q6UXC1;Q6UXC1-2	.|AEGP_HUMAN;.	R|G	972|908;987	.|ENSP00000319388:W908G;ENSP00000411339:W987G	.|ENSP00000319388:W908G	L|W	+|+	2|1	0|0	MAMDC4|MAMDC4	138872720|138872720	0.007000|0.007000	0.16637|0.16637	0.232000|0.232000	0.24009|0.24009	0.941000|0.941000	0.58515|0.58515	0.076000|0.076000	0.14712|0.14712	-0.021000|-0.021000	0.14009|0.14009	0.459000|0.459000	0.35465|0.35465	CTG|TGG		0.692	MAMDC4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254642.3	NM_206920		G	139752899	T	G	139752899	3	3	748	1	0	0	0	0	1	0	0	0	9206	1580	55	5	2808	5	MAMDC4	9	139752899	Missense_Mutation	SNP	T	TCGA-KO-8407-01A-11D-2310-10	120811120	139752899	1460532	35	43876											
ENTPD2	954	broad.mit.edu	37	9	139946006	139946006	+	Silent	SNP	G	G	T			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr9:139946006G>T	ENST00000355097.2	-	3	389	c.342C>A	c.(340-342)ggC>ggA	p.G114G	ENTPD2_ENST00000312665.5_Silent_p.G114G|ENTPD2_ENST00000460614.1_5'Flank|RP11-229P13.15_ENST00000439076.1_RNA	NM_001246.3|NM_203468.2	NP_001237.1|NP_982293.1	Q9Y5L3	ENTP2_HUMAN	ectonucleoside triphosphate diphosphohydrolase 2	114					G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		AGAGGGGTGTGCCCGCGTGTC	0.617																																																0													67	64	65					9																	139946006		2202	4299	6501	SO:0001819	synonymous_variant	954			U91510	CCDS7025.1, CCDS7026.1	9q34	2008-07-21			ENSG00000054179	ENSG00000054179			3364	protein-coding gene	gene with protein product	"CD39-like-1", "ecto-ATPase"	602012		CD39L1		9271669	Standard	NM_203468		Approved	NTPDase-2	uc004ckw.2	Q9Y5L3	OTTHUMG00000020953	ENST00000355097.2:c.342C>A	9.37:g.139946006G>T			O15464|Q5SPY6|Q5SPY7	Silent	SNP	ENST00000355097.2	37	CCDS7026.1																																																																																				0.617	ENTPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055169.1	NM_203468		T	139946006	G	T	139946006	2	4	748	1	0	0	0	0	0	0	0	1	5141	1306	46	4		4	ENTPD2	9	139946006	Silent	SNP	G	TCGA-KO-8407-01A-11D-2310-10	193107	139946006	1267425	36	43877											
ADD3	120	bcgsc.ca	37	10	111890182	111890182	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr10:111890182T>C	ENST00000356080.4	+	13	2037	c.1670T>C	c.(1669-1671)cTc>cCc	p.L557P	ADD3_ENST00000277900.8_Missense_Mutation_p.L557P|ADD3_ENST00000360162.3_Missense_Mutation_p.L557P	NM_016824.3	NP_058432.1	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	557						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)		TTTAGTCATCTCACAGAAGGA	0.383																																																0													156	142	147					10																	111890182		2203	4300	6503	SO:0001583	missense	120			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.1670T>C	10.37:g.111890182T>C	ENSP00000348381:p.Leu557Pro		D3DRA8|O43243|Q5VU09|Q92773|Q9UEY7	Missense_Mutation	SNP	ENST00000356080.4	37	CCDS7561.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.117345	0.77323	.	.	ENSG00000148700	ENST00000360162;ENST00000356080;ENST00000277900	T;T;T	0.20738	2.05;2.05;2.05	5.9	5.9	0.94986	.	0.121775	0.56097	D	0.000032	T	0.48390	0.1497	M	0.73430	2.235	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.79108	0.949;0.992	T	0.50372	-0.8836	10	0.87932	D	0	-4.0791	16.3291	0.83001	0.0:0.0:0.0:1.0	.	557;557	Q9UEY8;Q9UEY8-2	ADDG_HUMAN;.	P	557	ENSP00000353286:L557P;ENSP00000348381:L557P;ENSP00000277900:L557P	ENSP00000277900:L557P	L	+	2	0	ADD3	111880172	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.989000	0.63870	2.257000	0.74773	0.528000	0.53228	CTC		0.383	ADD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050289.1	NM_019903		C	111890182	T	C	111890182	3	2	748	1	0	0	0	0	1	0	0	0	306	1551	54	3	1716	3	ADD3	10	111890182	Missense_Mutation	SNP	T	TCGA-KO-8407-01A-11D-2310-10		111890182	23644565	37	43878											
SYT8	90019	mdanderson.org	37	11	1858572	1858572	+	Missense_Mutation	SNP	C	C	T	rs2292474	byFrequency	TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr11:1858572C>T	ENST00000381968.3	+	9	1245	c.1117C>T	c.(1117-1119)Cgg>Tgg	p.R373W	SYT8_ENST00000535046.1_3'UTR|TNNI2_ENST00000381905.3_5'Flank|TNNI2_ENST00000381906.1_5'Flank|SYT8_ENST00000341958.3_Missense_Mutation_p.R359W|TNNI2_ENST00000252898.7_5'Flank|TNNI2_ENST00000381911.1_5'Flank	NM_138567.3	NP_612634	Q8NBV8	SYT8_HUMAN	synaptotagmin VIII	373					acrosome reaction (GO:0007340)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	transporter activity (GO:0005215)			breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		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;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CATTGCCCAGCGGCACCCCCT	0.731													T|||	1928	0.384984	0.1679	0.415	5008	,	,		13483	0.378		0.498	False		,,,				2504	0.5481															0								T	TRP/ARG	906,3442		119,668,1387	12	14	14		1117	2.7	1	11	dbSNP_100	14	4072,4398		1026,2020,1189	no	missense	SYT8	NM_138567.3	101	1145,2688,2576	TT,TC,CC		48.0756,20.8372,38.836	benign	373/402	1858572	4978,7840	2174	4235	6409	SO:0001583	missense	90019			AL137708	CCDS7726.2	11p15.5	2013-01-21			ENSG00000149043	ENSG00000149043		"Synaptotagmins"	19264	protein-coding gene	gene with protein product		607719				7791877	Standard	XM_005253216		Approved	DKFZp434K0322	uc001lue.1	Q8NBV8	OTTHUMG00000009026	ENST00000381968.3:c.1117C>T	11.37:g.1858572C>T	ENSP00000371394:p.Arg373Trp		A6NFJ4|Q9NSV9	Missense_Mutation	SNP	ENST00000381968.3	37	CCDS7726.2	855|855	0.3914835164835165|0.3914835164835165	84|84	0.17073170731707318|0.17073170731707318	163|163	0.45027624309392267|0.45027624309392267	226|226	0.3951048951048951|0.3951048951048951	382|382	0.503957783641161|0.503957783641161	t|t	1.107|1.107	-0.659353|-0.659353	0.03454|0.03454	0.208372|0.208372	0.480756|0.480756	ENSG00000149043|ENSG00000149043	ENST00000381978|ENST00000381968;ENST00000341958	.|T;T	.|0.03951	.|3.77;3.75	3.85|3.85	2.68|2.68	0.31781|0.31781	.|.	.|.	.|.	.|.	.|.	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.00005|0.00005	-3.275|-3.275	0.09310|0.09310	P|P	1.0|1.0	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.41928|0.41928	-0.9481|-0.9481	4|8	.|0.02654	.|T	.|1	.|.	8.5203|8.5203	0.33270|0.33270	0.0:0.1655:0.0:0.8345|0.0:0.1655:0.0:0.8345	rs2292474|rs2292474	.|373;359	.|Q8NBV8;A6NCR4	.|SYT8_HUMAN;.	V|W	371|373;359	.|ENSP00000371394:R373W;ENSP00000343691:R359W	.|ENSP00000343691:R359W	A|R	+|+	2|1	0|2	SYT8|SYT8	1815148|1815148	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.293000|0.293000	0.27360|0.27360	3.304000|3.304000	0.51866|0.51866	0.174000|0.174000	0.19809|0.19809	-0.665000|-0.665000	0.03846|0.03846	GCG|CGG		0.731	SYT8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025013.4			T	1858572	C	T	1858572	3	4	748	1	0	0	0	0	1	0	0	0	15485	759	27	1	1151	1	SYT8	11	1858572	Missense_Mutation	SNP	C	TCGA-KO-8407-01A-11D-2310-10		1858572	133147944	38	43879											
SYT9	143425	broad.mit.edu	37	11	7439309	7439309	+	Silent	SNP	C	C	T	rs375976845		TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr11:7439309C>T	ENST00000318881.6	+	5	1524	c.1287C>T	c.(1285-1287)ccC>ccT	p.P429P		NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	429	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)	p.P429P(1)		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)		ATGTCCCTCCCGAGAACATTG	0.473													C|||	1	0.000199681	0.0	0.0014	5008	,	,		23605	0.0		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	lung(1)						C		1,4401	2.1+/-5.4	0,1,2200	175	147	157		1287	-11.7	0.7	11		157	0,8592		0,0,4296	no	coding-synonymous	SYT9	NM_175733.3		0,1,6496	TT,TC,CC		0.0,0.0227,0.0077		429/492	7439309	1,12993	2201	4296	6497	SO:0001819	synonymous_variant	143425			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.1287C>T	11.37:g.7439309C>T				Silent	SNP	ENST00000318881.6	37	CCDS7778.1																																																																																				0.473	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384483.1	NM_175733		T	7439309	C	T	7439309	2	4	748	1	0	0	0	0	0	0	0	1	15486	639	23	1		1	SYT9	11	7439309	Silent	SNP	C	TCGA-KO-8407-01A-11D-2310-10	5580737	7439309	127567207	39	43880											
QSER1	79832	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	11	32954825	32954825	+	Missense_Mutation	SNP	A	A	T			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr11:32954825A>T	ENST00000399302.2	+	4	1969	c.1634A>T	c.(1633-1635)tAt>tTt	p.Y545F	QSER1_ENST00000527788.1_Missense_Mutation_p.Y306F	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	545										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)					CCAAAGTCTTATGCTGAAAGA	0.413																																																0													108	102	104					11																	32954825		1889	4123	6012	SO:0001583	missense	79832			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.1634A>T	11.37:g.32954825A>T	ENSP00000382241:p.Tyr545Phe		Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	ENST00000399302.2	37	CCDS41631.1	.	.	.	.	.	.	.	.	.	.	A	12.15	1.851349	0.32699	.	.	ENSG00000060749	ENST00000399302;ENST00000078652;ENST00000527788	T;T	0.24908	2.16;1.83	5.01	5.01	0.66863	.	0.000000	0.64402	D	0.000014	T	0.44932	0.1317	M	0.64997	1.995	0.42017	D	0.990965	D;D;D	0.67145	0.995;0.996;0.993	P;P;P	0.60609	0.852;0.877;0.757	T	0.44967	-0.9293	10	0.59425	D	0.04	.	15.0045	0.71501	1.0:0.0:0.0:0.0	.	306;306;545	C9JJ88;Q2KHR3-2;Q2KHR3	.;.;QSER1_HUMAN	F	545;306;306	ENSP00000382241:Y545F;ENSP00000432766:Y306F	ENSP00000078652:Y306F	Y	+	2	0	QSER1	32911401	1.000000	0.71417	0.958000	0.39756	0.017000	0.09413	5.277000	0.65586	2.019000	0.59389	0.482000	0.46254	TAT		0.413	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774		T	32954825	A	T	32954825	3	4	748	1	0	0	0	0	1	0	0	0	12888	449	16	5	1640	5	QSER1	11	32954825	Missense_Mutation	SNP	A	TCGA-KO-8407-01A-11D-2310-10	25515516	32954825	102051691	40	43881											
CAPRIN1	4076	broad.mit.edu	37	11	34118204	34118204	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr11:34118204delT	ENST00000341394.4	+	16	2073	c.1884delT	c.(1882-1884)cctfs	p.P628fs	CAPRIN1_ENST00000533657.1_3'UTR|CAPRIN1_ENST00000389645.3_Frame_Shift_Del_p.P628fs|CAPRIN1_ENST00000532820.1_Frame_Shift_Del_p.P628fs|CAPRIN1_ENST00000529307.1_Frame_Shift_Del_p.P547fs|CAPRIN1_ENST00000530820.1_Frame_Shift_Del_p.P628fs	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	628					negative regulation of translation (GO:0017148)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				ACCGGGGCCCTGCCAATGGAT	0.403																																																0													57	63	61					11																	34118204		2202	4298	6500	SO:0001589	frameshift_variant	4076			BC001731	CCDS31453.1, CCDS31454.1	11p13	2010-08-03	2007-03-27	2007-03-27	ENSG00000135387	ENSG00000135387			6743	protein-coding gene	gene with protein product	"cytoplasmic activation/proliferation-associated protein-1"	601178	"membrane component, chromosome 11, surface marker 1", "GPI-anchored membrane protein 1"	M11S1, GPIAP1		7657653, 16177067, 17210633, 14764709, 15471883	Standard	NM_005898		Approved	caprin-1, RNG105	uc001mvh.1	Q14444	OTTHUMG00000166248	ENST00000341394.4:c.1884delT	11.37:g.34118204delT	ENSP00000340329:p.Pro628fs		A6NMY7|D3DR06|Q15074|Q6IMN4|Q6IMN7|Q9BV09	Frame_Shift_Del	DEL	ENST00000341394.4	37	CCDS31453.1																																																																																				0.403	CAPRIN1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000388680.2	NM_005898		-	34118204	T	-	34118204	7	5	748	1	0	1	0	1	0	0	0	0	2637	1567	55	0	1942	0	CAPRIN1	11	34118204	Frame_Shift_Del	DEL	T	TCGA-KO-8407-01A-11D-2310-10	1163379	34118204	100888312	41	43882											
OR5A1	219982	mdanderson.org	37	11	59211421	59211421	+	Silent	SNP	C	C	T	rs17591107	byFrequency	TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr11:59211421C>T	ENST00000302030.2	+	1	805	c.780C>T	c.(778-780)ttC>ttT	p.F260F		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, 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)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						CAGCCCTTTTCGTGTACTTGC	0.537													C|||	630	0.125799	0.0242	0.1326	5008	,	,		21088	0.1111		0.2525	False		,,,				2504	0.1431															0								C		251,4151	146.9+/-181.5	10,231,1960	265	215	232		780	6	1	11	dbSNP_123	232	2264,6326	383.3+/-340.7	283,1698,2314	no	coding-synonymous	OR5A1	NM_001004728.1		293,1929,4274	TT,TC,CC		26.3562,5.702,19.3581		260/316	59211421	2515,10477	2201	4295	6496	SO:0001819	synonymous_variant	219982			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.780C>T	11.37:g.59211421C>T			B9EH58|Q6IFF2|Q96RB1	Silent	SNP	ENST00000302030.2	37	CCDS31561.1																																																																																				0.537	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394233.1	NM_001004728		T	59211421	C	T	59211421	2	4	748	1	0	0	0	0	0	0	0	1	11141	883	31	1		1	OR5A1	11	59211421	Silent	SNP	C	TCGA-KO-8407-01A-11D-2310-10	25093217	59211421	75795095	42	43883											
C11orf9	745	broad.mit.edu	37	11	61537812	61537813	+	Frame_Shift_Ins	INS	-	-	C	rs531308836	byFrequency	TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr11:61537812_61537813insC	ENST00000278836.5	+	5	651_652	c.555_556insC	c.(556-558)ccafs	p.P186fs	MYRF_ENST00000265460.5_Frame_Shift_Ins_p.P177fs|TMEM258_ENST00000535042.1_Intron	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	186	Pro-rich.				central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CAGCCCACTTGCCAGGCCCCCC	0.688																																																0																																										SO:0001589	frameshift_variant	745				CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"myelin gene regulatory factor"	608329	"chromosome 11 open reading frame 9"	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.557dupC	11.37:g.61537814_61537814dupC	ENSP00000278836:p.Pro186fs		O43582|Q9P1Q6	Frame_Shift_Ins	INS	ENST00000278836.5	37	CCDS44622.1																																																																																				0.688	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398519.2	NM_013279		C	61537813	-	C	61537812	7	5	748	1	0	1	1	0	0	0	0	0	1673	1310	46	0	596	0	C11orf9	11	61537812	Frame_Shift_Ins	INS	-	TCGA-KO-8407-01A-11D-2310-10	2326391	61537812	73468704	43	43884											
FRMD8	83786	broad.mit.edu	37	11	65172422	65172423	+	Frame_Shift_Ins	INS	-	-	C	rs139552682		TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr11:65172422_65172423insC	ENST00000317568.5	+	10	1322_1323	c.1159_1160insC	c.(1159-1161)tcgfs	p.S387fs	FRMD8_ENST00000355991.5_Frame_Shift_Ins_p.S331fs|FRMD8_ENST00000416776.2_Frame_Shift_Ins_p.S353fs	NM_031904.3	NP_114110.1	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	387						cytoskeleton (GO:0005856)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1)	17						TGCGACTGGCTCGCCCTCGGAC	0.663																																																0																																										SO:0001589	frameshift_variant	83786			AK074850	CCDS8102.1, CCDS73320.1	11q13.1	2007-08-14			ENSG00000126391	ENSG00000126391			25462	protein-coding gene	gene with protein product						12477932	Standard	NM_031904		Approved	FLJ90369, FKSG44	uc001odu.4	Q9BZ67	OTTHUMG00000166275	ENST00000317568.5:c.1160dupC	11.37:g.65172423_65172423dupC	ENSP00000319726:p.Ser387fs		B4E2P1|Q86V56|Q8NCB5	Frame_Shift_Ins	INS	ENST00000317568.5	37	CCDS8102.1																																																																																				0.663	FRMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388833.1	NM_031904		C	65172423	-	C	65172422	7	5	748	1	0	1	1	0	0	0	0	0	6058	1551	54	0	1193	0	FRMD8	11	65172422	Frame_Shift_Ins	INS	-	TCGA-KO-8407-01A-11D-2310-10	3634610	65172422	69834094	44	43885											
IQSEC3	440073	mdanderson.org	37	12	248071	248071	+	Missense_Mutation	SNP	G	G	C	rs77474006	byFrequency	TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr12:248071G>C	ENST00000538872.1	+	4	1660	c.1542G>C	c.(1540-1542)caG>caC	p.Q514H	IQSEC3_ENST00000326261.4_Missense_Mutation_p.Q514H|RP11-598F7.4_ENST00000508953.2_RNA|RP11-598F7.4_ENST00000505893.2_RNA|IQSEC3_ENST00000382841.2_Missense_Mutation_p.Q211H			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	514				Q -> H (in Ref. 1; AK091953). {ECO:0000305}.	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)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		TGGGCGCTCAGACGGTCCAGG	0.711													G|||	285	0.0569089	0.0106	0.1023	5008	,	,		11482	0.0923		0.0487	False		,,,				2504	0.0593															0								G	HIS/GLN,HIS/GLN	89,4315		2,85,2115	28	24	26		633,1542	1.8	0	12	dbSNP_131	26	516,8078		20,476,3801	yes	missense,missense	IQSEC3	NM_015232.1,NM_001170738.1	24,24	22,561,5916	CC,CG,GG		6.0042,2.0209,4.6546	benign,benign	211/760,514/1183	248071	605,12393	2202	4297	6499	SO:0001583	missense	440073			AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.1542G>C	12.37:g.248071G>C	ENSP00000437554:p.Gln514His		A6NIF2|A6NKV9|Q8TB43	Missense_Mutation	SNP	ENST00000538872.1	37	CCDS53728.1	114	0.0521978021978022	3	0.006097560975609756	28	0.07734806629834254	46	0.08041958041958042	37	0.048812664907651716	G	16.49	3.137794	0.56936	0.020209	0.060042	ENSG00000120645	ENST00000538872;ENST00000326261;ENST00000382841	T;T;T	0.10288	2.89;2.89;2.9	5.14	1.79	0.24919	.	2.881560	0.00496	N	0.000144	T	0.00815	0.0027	M	0.68952	2.095	0.80722	P	0.0	B;B	0.14805	0.011;0.004	B;B	0.12156	0.005;0.007	T	0.27468	-1.0073	9	0.54805	T	0.06	.	7.7839	0.29080	0.1955:0.1367:0.6678:0.0	.	514;211	Q9UPP2;Q9UPP2-2	IQEC3_HUMAN;.	H	514;514;211	ENSP00000437554:Q514H;ENSP00000315662:Q514H;ENSP00000372292:Q211H	ENSP00000315662:Q514H	Q	+	3	2	IQSEC3	118332	0.024000	0.19004	0.018000	0.16275	0.006000	0.05464	0.502000	0.22594	0.543000	0.28864	0.561000	0.74099	CAG		0.711	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3	XM_495902		C	248071	G	C	248071	3	2	748	1	0	0	0	0	1	0	0	0	7821	933	33	4	1556	4	IQSEC3	12	248071	Missense_Mutation	SNP	G	TCGA-KO-8407-01A-11D-2310-10		248071	133603824	45	43886											
PRB4	5545	mdanderson.org	37	12	11461742	11461742	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr12:11461742C>T	ENST00000535904.1	-	3	208	c.175G>A	c.(175-177)Gga>Aga	p.G59R	PRB4_ENST00000279575.1_Missense_Mutation_p.G59R|PRB4_ENST00000445719.2_Missense_Mutation_p.G59R			P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	80	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.					extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						GGGGGTGGTCCTTGTGGCTTT	0.627										HNSCC(22;0.051)																																						0													205	222	216					12																	11461742		2201	4293	6494	SO:0001583	missense	5545				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.175G>A	12.37:g.11461742C>T	ENSP00000442834:p.Gly59Arg		A1L439|O00600|P02813|P10161|P10162|P81489	Missense_Mutation	SNP	ENST00000535904.1	37	CCDS8641.1	.	.	.	.	.	.	.	.	.	.	.	1.855	-0.464114	0.04476	.	.	ENSG00000230657	ENST00000279575;ENST00000535904;ENST00000445719	T;T;T	0.04862	3.54;3.54;3.54	0.956	-1.91	0.07641	.	.	.	.	.	T	0.06554	0.0168	M	0.66297	2.02	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.40079	-0.9582	9	0.31617	T	0.26	.	2.5673	0.04786	0.0:0.3453:0.2742:0.3805	.	59	E9PAL0	.	R	59	ENSP00000279575:G59R;ENSP00000442834:G59R;ENSP00000412740:G59R	ENSP00000279575:G59R	G	-	1	0	PRB4	11353009	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-2.693000	0.00829	-1.187000	0.02709	0.196000	0.17591	GGA		0.627	PRB4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402308.1	NM_002723		T	11461742	C	T	11461742	3	4	748	1	0	0	0	0	1	0	0	0	12450	690	24	2	572	2	PRB4	12	11461742	Missense_Mutation	SNP	C	TCGA-KO-8407-01A-11D-2310-10	11213671	11461742	122390153	46	43887											
DDX11	1663	mdanderson.org	37	12	31242999	31242999	+	Missense_Mutation	SNP	G	G	A	rs553935649	byFrequency	TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr12:31242999G>A	ENST00000407793.2	+	9	1311	c.1060G>A	c.(1060-1062)Ggg>Agg	p.G354R	DDX11_ENST00000350437.4_Missense_Mutation_p.G354R|DDX11_ENST00000545668.1_Missense_Mutation_p.G354R|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000542838.1_Missense_Mutation_p.G354R|DDX11_ENST00000228264.6_Missense_Mutation_p.G328R	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	354	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TCCCTATTACGGGAGCCGCCT	0.657										Multiple Myeloma(12;0.14)			G|||	521	0.104034	0.0446	0.1412	5008	,	,		17385	0.131		0.1501	False		,,,				2504	0.0828															0													2	2	2					12																	31242999		1402	2986	4388	SO:0001583	missense	1663			U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"DEAD-boxes"	2736	protein-coding gene	gene with protein product	"CHL1-like helicase homolog (S. cerevisiae)"	601150	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)", "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.1060G>A	12.37:g.31242999G>A	ENSP00000384703:p.Gly354Arg		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000407793.2	37	CCDS44856.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.205774	0.58234	.	.	ENSG00000013573	ENST00000542838;ENST00000407793;ENST00000404673;ENST00000228264;ENST00000545668;ENST00000350437	T;T;T;T;T	0.70749	-0.49;-0.51;-0.49;-0.51;-0.51	3.98	3.98	0.46160	DEAD2 (1);Helicase-like, DEXD box c2 type (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.224870	0.45126	D	0.000399	T	0.80879	0.4708	M	0.74647	2.275	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	D;D;D;D;D	0.77557	0.981;0.957;0.99;0.959;0.973	T	0.81669	-0.0828	10	0.59425	D	0.04	.	8.967	0.35883	0.0:0.0:0.7785:0.2215	.	79;328;354;354;354	Q93000;Q96FC9-3;Q96FC9;Q96FC9-4;Q96FC9-2	.;.;DDX11_HUMAN;.;.	R	354;354;79;328;354;354	ENSP00000443426:G354R;ENSP00000384703:G354R;ENSP00000228264:G328R;ENSP00000440402:G354R;ENSP00000309965:G354R	ENSP00000228264:G328R	G	+	1	0	DDX11	31134266	1.000000	0.71417	0.962000	0.40283	0.851000	0.48451	4.533000	0.60615	2.038000	0.60285	0.505000	0.49811	GGG		0.657	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653		A	31242999	G	A	31242999	3	1	748	1	0	0	0	0	1	0	0	0	4345	1116	39	1	1090	1	DDX11	12	31242999	Missense_Mutation	SNP	G	TCGA-KO-8407-01A-11D-2310-10	19781257	31242999	102608896	47	43888											
MLL2	8085	broad.mit.edu	37	12	49415604	49415605	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr12:49415604_49415605insG	ENST00000301067.7	-	54	16571_16572	c.16572_16573insC	c.(16570-16575)ccctgcfs	p.C5525fs	PRKAG1_ENST00000548065.1_5'Flank|RP11-386G11.5_ENST00000552933.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5525	Post-SET. {ECO:0000255|PROSITE- ProRule:PRU00155}.				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)										CCACAGTGGCAGGGGATCTTGT	0.51																																																0																																										SO:0001589	frameshift_variant	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.16573dupC	12.37:g.49415608_49415608dupG	ENSP00000301067:p.Cys5525fs		O14687	Frame_Shift_Ins	INS	ENST00000301067.7	37	CCDS44873.1																																																																																				0.51	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			G	49415605	-	G	49415604	7	5	748	1	0	1	1	0	0	0	0	0	9623	188	7	0	44	0	MLL2	12	49415604	Frame_Shift_Ins	INS	-	TCGA-KO-8407-01A-11D-2310-10	18172605	49415604	84436291	48	43889											
KRT6B	3854	mdanderson.org	37	12	52843581	52843581	+	Silent	SNP	A	A	G	rs382894		TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr12:52843581A>G	ENST00000252252.3	-	4	920	c.873T>C	c.(871-873)ctT>ctC	p.L291L		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	291	Coil 1B.|Rod.				ectoderm development (GO:0007398)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)	p.L291L(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)		TCTCATCTGTAAGAGTGTCTG	0.488																																																1	Substitution - coding silent(1)	prostate(1)											186	173	177					12																	52843581		2203	4300	6503	SO:0001819	synonymous_variant	3854			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.873T>C	12.37:g.52843581A>G			P48669	Silent	SNP	ENST00000252252.3	37	CCDS8828.1																																																																																				0.488	KRT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404969.1	NM_005555		G	52843581	A	G	52843581	2	3	748	1	0	0	0	0	0	0	0	1	8483	349	13	3		3	KRT6B	12	52843581	Silent	SNP	A	TCGA-KO-8407-01A-11D-2310-10	3427977	52843581	81008314	49	43890											
CEP290	80184	broad.mit.edu	37	12	88443060	88443060	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr12:88443060delT	ENST00000552810.1	-	54	7684	c.7341delA	c.(7339-7341)aaafs	p.K2447fs	CEP290_ENST00000397838.3_Frame_Shift_Del_p.K1507fs|C12orf29_ENST00000356891.3_3'UTR|CEP290_ENST00000309041.7_Frame_Shift_Del_p.K2449fs|CEP290_ENST00000547691.2_Frame_Shift_Del_p.K1507fs|RNA5SP364_ENST00000516938.1_RNA	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	2447					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						GTTCTGAAAGTTTTTTTACCT	0.308																																																0													80	79	80					12																	88443060		1796	4061	5857	SO:0001589	frameshift_variant	80184			AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"Joubert syndrome 5", "nephrocystin-6", "cancer/testis antigen 87", "POC3 centriolar protein homolog (Chlamydomonas)", "Meckel syndrome, type 4"	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.7341delA	12.37:g.88443060delT	ENSP00000448012:p.Lys2447fs		Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Frame_Shift_Del	DEL	ENST00000552810.1	37	CCDS55858.1																																																																																				0.308	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114		-	88443060	T	-	88443060	7	5	748	1	0	1	0	1	0	0	0	0	3255	1722	60	0	102	0	CEP290	12	88443060	Frame_Shift_Del	DEL	T	TCGA-KO-8407-01A-11D-2310-10	35599479	88443060	45408835	50	43891											
BRAP	8315	broad.mit.edu;mdanderson.org;bcgsc.ca	37	12	112082340	112082340	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr12:112082340G>A	ENST00000327551.6	-	12	1492	c.1352C>T	c.(1351-1353)gCc>gTc	p.A451V	BRAP_ENST00000539060.1_Missense_Mutation_p.A302V|BRAP_ENST00000419234.4_Missense_Mutation_p.A481V			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						GGTGAGTTTGGCCACTTTTGT	0.458																																					Pancreas(146;846 1904 7830 25130 26065)											0													106	99	102					12																	112082340		2203	4300	6503	SO:0001583	missense	8315			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.1352C>T	12.37:g.112082340G>A	ENSP00000330813:p.Ala451Val		B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Missense_Mutation	SNP	ENST00000327551.6	37		.	.	.	.	.	.	.	.	.	.	G	14.69	2.610943	0.46631	.	.	ENSG00000089234	ENST00000419234;ENST00000539060;ENST00000327551;ENST00000547043	T;T;T	0.46819	0.86;0.89;0.88	5.8	5.8	0.92144	.	0.105878	0.64402	D	0.000003	T	0.41604	0.1166	L	0.39397	1.21	0.58432	D	0.999994	B;B	0.06786	0.0;0.001	B;B	0.10450	0.0;0.005	T	0.13442	-1.0509	10	0.30078	T	0.28	-14.4681	16.3021	0.82825	0.0:0.1322:0.8678:0.0	.	302;481	B4DRM1;Q7Z569	.;BRAP_HUMAN	V	481;302;451;263	ENSP00000403524:A481V;ENSP00000441659:A302V;ENSP00000330813:A451V	ENSP00000330813:A451V	A	-	2	0	BRAP	110566723	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.532000	0.67154	2.737000	0.93849	0.557000	0.71058	GCC		0.458	BRAP-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404994.2			A	112082340	G	A	112082340	3	1	748	1	0	0	0	0	1	0	0	0	1499	1203	42	2	340	2	BRAP	12	112082340	Missense_Mutation	SNP	G	TCGA-KO-8407-01A-11D-2310-10	23639280	112082340	21769555	51	43892											
WDR66	144406	broad.mit.edu	37	12	122361543	122361543	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr12:122361543A>G	ENST00000288912.4	+	3	1248	c.394A>G	c.(394-396)Agc>Ggc	p.S132G	WDR66_ENST00000397454.2_Missense_Mutation_p.S132G	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	132							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)		CCAAAGAGGTAGCAAGTCAAA	0.363																																					Esophageal Squamous(85;849 1794 49757 52143)											0													72	66	68					12																	122361543		1831	4084	5915	SO:0001583	missense	144406			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.394A>G	12.37:g.122361543A>G	ENSP00000288912:p.Ser132Gly		C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Missense_Mutation	SNP	ENST00000288912.4	37	CCDS41853.1	.	.	.	.	.	.	.	.	.	.	A	6.574	0.474291	0.12521	.	.	ENSG00000158023	ENST00000288912;ENST00000397454	T;T	0.18338	2.22;2.22	3.04	0.672	0.17935	.	1.271310	0.05890	N	0.628150	T	0.09818	0.0241	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.35822	-0.9773	10	0.32370	T	0.25	.	4.7844	0.13219	0.7199:0.0:0.2801:0.0	.	132	Q8TBY9	WDR66_HUMAN	G	132	ENSP00000288912:S132G;ENSP00000380595:S132G	ENSP00000288912:S132G	S	+	1	0	WDR66	120845926	0.000000	0.05858	0.000000	0.03702	0.064000	0.16182	0.276000	0.18716	0.130000	0.18549	0.377000	0.23210	AGC		0.363	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401700.1	NM_144668		G	122361543	A	G	122361543	3	3	748	1	0	0	0	0	1	0	0	0	17322	420	15	3	400	3	WDR66	12	122361543	Missense_Mutation	SNP	A	TCGA-KO-8407-01A-11D-2310-10	10279203	122361543	11490352	52	43893											
PABPC3	5042	mdanderson.org	37	13	25671742	25671742	+	Missense_Mutation	SNP	G	G	A	rs140135080	byFrequency	TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr13:25671742G>A	ENST00000281589.3	+	1	1443	c.1406G>A	c.(1405-1407)cGa>cAa	p.R469Q		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	469					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)		CAGGTTCCACGAGTCATGTCA	0.547																																																0													104	96	98					13																	25671742		2203	4300	6503	SO:0001583	missense	5042			AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"RNA binding motif (RRM) containing"	8556	protein-coding gene	gene with protein product	"testis PABP"	604680	"poly(A)-binding protein, cytoplasmic 3"	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1406G>A	13.37:g.25671742G>A	ENSP00000281589:p.Arg469Gln		Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	G	6.381	0.438497	0.12104	.	.	ENSG00000151846	ENST00000281589	T	0.26223	1.75	0.875	-0.195	0.13236	.	0.000000	0.40064	U	0.001189	T	0.13114	0.0318	L	0.35288	1.05	0.42075	D	0.991227	B	0.06786	0.001	B	0.06405	0.002	T	0.20638	-1.0269	10	0.10902	T	0.67	.	5.1429	0.14969	0.252:0.0:0.748:0.0	.	469	Q9H361	PABP3_HUMAN	Q	469	ENSP00000281589:R469Q	ENSP00000281589:R469Q	R	+	2	0	PABPC3	24569742	1.000000	0.71417	0.977000	0.42913	0.138000	0.21146	3.032000	0.49736	-0.094000	0.12374	0.313000	0.20887	CGA		0.547	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		A	25671742	G	A	25671742	3	1	748	1	0	0	0	0	1	0	0	0	11367	1058	37	1	1408	1	PABPC3	13	25671742	Missense_Mutation	SNP	G	TCGA-KO-8407-01A-11D-2310-10		25671742	89498136	53	43894			1	111		2	2	18	N	G_C	4.722609e-05
PABPC3	5042	mdanderson.org	37	13	25671759	25671759	+	Missense_Mutation	SNP	C	C	T	rs115121649	byFrequency	TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr13:25671759C>T	ENST00000281589.3	+	1	1460	c.1423C>T	c.(1423-1425)Cgt>Tgt	p.R475C		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	475					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)		GTCAACGCAGCGTGTTGCTAA	0.532																																																0													93	84	87					13																	25671759		2203	4300	6503	SO:0001583	missense	5042			AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"RNA binding motif (RRM) containing"	8556	protein-coding gene	gene with protein product	"testis PABP"	604680	"poly(A)-binding protein, cytoplasmic 3"	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1423C>T	13.37:g.25671759C>T	ENSP00000281589:p.Arg475Cys		Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	C	7.042	0.562727	0.13498	.	.	ENSG00000151846	ENST00000281589	T	0.29142	1.58	0.875	-1.75	0.08031	.	0.000000	0.48767	U	0.000176	T	0.32346	0.0826	M	0.86740	2.835	0.52501	D	0.999952	B	0.11235	0.004	B	0.06405	0.002	T	0.03750	-1.1007	10	0.48119	T	0.1	.	6.6426	0.22917	0.0:0.732:0.0:0.268	.	475	Q9H361	PABP3_HUMAN	C	475	ENSP00000281589:R475C	ENSP00000281589:R475C	R	+	1	0	PABPC3	24569759	1.000000	0.71417	0.869000	0.34112	0.045000	0.14185	1.663000	0.37429	-0.898000	0.03906	-1.305000	0.01319	CGT		0.532	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		T	25671759	C	T	25671759	3	4	748	1	0	0	0	0	1	0	0	0	11367	768	27	1	1425	1	PABPC3	13	25671759	Missense_Mutation	SNP	C	TCGA-KO-8407-01A-11D-2310-10	17	25671759	89498119	54	43895			1	111		2	2	18	N	G_C	4.722609e-05
LECT1	11061	ucsc.edu	37	13	53313218	53313218	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr13:53313218A>G	ENST00000377962.3	-	2	239	c.161T>C	c.(160-162)cTg>cCg	p.L54P	LECT1_ENST00000448904.2_Missense_Mutation_p.L54P			O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1	54					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)		CCCAAAGAGCAGCAGCACAGC	0.692																																																0													28	38	35					13																	53313218		2203	4298	6501	SO:0001583	missense	11061			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.161T>C	13.37:g.53313218A>G	ENSP00000367198:p.Leu54Pro		Q5TAM4|Q8TAY6|Q9UM18	Missense_Mutation	SNP	ENST00000377962.3	37	CCDS9437.1	.	.	.	.	.	.	.	.	.	.	A	18.37	3.609899	0.66558	.	.	ENSG00000136110	ENST00000448904;ENST00000377962	T;T	0.48836	0.81;0.8	4.55	4.55	0.56014	.	0.000000	0.64402	D	0.000002	T	0.56426	0.1984	L	0.34521	1.04	0.80722	D	1	D;D;D	0.76494	0.999;0.996;0.994	D;D;P	0.68192	0.956;0.939;0.87	T	0.61163	-0.7118	10	0.87932	D	0	.	13.8929	0.63750	1.0:0.0:0.0:0.0	.	90;54;54	Q5TAN5;O75829-2;O75829	.;.;LECT1_HUMAN	P	54	ENSP00000388576:L54P;ENSP00000367198:L54P	ENSP00000367198:L54P	L	-	2	0	LECT1	52211219	1.000000	0.71417	1.000000	0.80357	0.444000	0.32077	8.309000	0.89969	1.670000	0.50864	0.379000	0.24179	CTG		0.692	LECT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045110.3			G	53313218	A	G	53313218	3	3	748	1	0	0	0	0	1	0	0	0	8714	188	7	3	867	3	LECT1	13	53313218	Missense_Mutation	SNP	A	TCGA-KO-8407-01A-11D-2310-10	27641459	53313218	61856660	55	43896											
C14orf149	112849	mdanderson.org	37	14	59950690	59950690	+	Silent	SNP	A	A	C	rs2296842	byFrequency	TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr14:59950690A>C	ENST00000247194.4	-	1	458	c.345T>G	c.(343-345)gcT>gcG	p.A115A	JKAMP_ENST00000556985.1_5'Flank|RP11-701B16.2_ENST00000554253.1_RNA|JKAMP_ENST00000261247.9_5'Flank|L3HYPDH_ENST00000487285.1_5'Flank|JKAMP_ENST00000356057.5_5'Flank|JKAMP_ENST00000425728.2_5'Flank|JKAMP_ENST00000554271.1_5'Flank	NM_144581.1	NP_653182.1	Q96EM0	T3HPD_HUMAN	L-3-hydroxyproline dehydratase (trans-)	115					metabolic process (GO:0008152)		hydro-lyase activity (GO:0016836)|trans-L-3-hydroxyproline dehydratase activity (GO:0050346)									L-Proline(DB00172)	CGAAGTCCAAAGCGAAGCGGC	0.706											OREG0022712	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A|||	1328	0.265176	0.1861	0.3833	5008	,	,		16051	0.1825		0.2376	False		,,,				2504	0.4018															0								A		853,3413		111,631,1391	10	10	10		345	-9.7	0	14	dbSNP_100	10	1857,6475		235,1387,2544	no	coding-synonymous	C14orf149	NM_144581.1		346,2018,3935	CC,CA,AA		22.2876,19.9953,21.5114		115/355	59950690	2710,9888	2133	4166	6299	SO:0001819	synonymous_variant	112849			AI762327	CCDS9739.1	14q23.1	2012-08-15	2012-08-15	2012-08-15	ENSG00000126790	ENSG00000126790	4.2.1.77		20488	protein-coding gene	gene with protein product	"trans-L-3-hydroxyproline dehydratase"	614811	"chromosome 14 open reading frame 149"	C14orf149		22528483	Standard	NM_144581		Approved	FLJ25436	uc001xee.1	Q96EM0	OTTHUMG00000028941	ENST00000247194.4:c.345T>G	14.37:g.59950690A>C		1042	Q96LJ5	Silent	SNP	ENST00000247194.4	37	CCDS9739.1																																																																																				0.706	L3HYPDH-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072254.5	NM_144581		C	59950690	A	C	59950690	2	2	748	1	0	0	0	0	0	0	0	1	1754	59	3	5		5	C14orf149	14	59950690	Silent	SNP	A	TCGA-KO-8407-01A-11D-2310-10		59950690	47398850	56	43897											
ADAM21	8747	mdanderson.org	37	14	70924335	70924335	+	Missense_Mutation	SNP	C	C	T	rs199920662	byFrequency	TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr14:70924335C>T	ENST00000603540.1	+	2	377	c.119C>T	c.(118-120)cCg>cTg	p.P40L	ADAM21_ENST00000267499.3_Missense_Mutation_p.P40L|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	40					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TTCACTTCCCCGGAAGTGGTG	0.547																																																0													97	102	100					14																	70924335		2203	4300	6503	SO:0001583	missense	8747			AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"ADAM metallopeptidase domain containing"	200	protein-coding gene	gene with protein product		603713	"a disintegrin and metalloproteinase domain 21"			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.119C>T	14.37:g.70924335C>T	ENSP00000474385:p.Pro40Leu		O43507|Q2VPC6|Q32MR0	Missense_Mutation	SNP	ENST00000603540.1	37	CCDS9804.1	.	.	.	.	.	.	.	.	.	.	C	7.541	0.660648	0.14645	.	.	ENSG00000139985	ENST00000267499	T	0.01051	5.4	3.77	2.87	0.33458	.	0.239499	0.21690	U	0.070593	T	0.01870	0.0059	M	0.79343	2.45	0.29294	N	0.869135	P	0.36412	0.552	B	0.34652	0.187	T	0.20706	-1.0267	10	0.32370	T	0.25	.	7.3425	0.26646	0.0:0.8757:0.0:0.1243	.	40	Q9UKJ8	ADA21_HUMAN	L	40	ENSP00000267499:P40L	ENSP00000267499:P40L	P	+	2	0	ADAM21	69994088	0.007000	0.16637	0.766000	0.31476	0.269000	0.26545	0.312000	0.19397	0.924000	0.37069	0.563000	0.77884	CCG		0.547	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3			T	70924335	C	T	70924335	3	4	748	1	0	0	0	0	1	0	0	0	243	652	23	1	121	1	ADAM21	14	70924335	Missense_Mutation	SNP	C	TCGA-KO-8407-01A-11D-2310-10	10973645	70924335	36425205	57	43898											
PRIMA1	145270	mdanderson.org	37	14	94245649	94245649	+	Silent	SNP	A	A	G	rs4905087	byFrequency	TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr14:94245649A>G	ENST00000393140.1	-	3	204	c.102T>C	c.(100-102)caT>caC	p.H34H	PRIMA1_ENST00000393143.1_Silent_p.H34H|PRIMA1_ENST00000316227.3_Silent_p.H34H	NM_178013.3	NP_821092.1	Q86XR5	PRIMA_HUMAN	proline rich membrane anchor 1	34					establishment of localization in cell (GO:0051649)|neurotransmitter catabolic process (GO:0042135)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|synapse (GO:0045202)				endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		all_cancers(154;0.127)		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)		GGGGCTCACCATGCGTCACCT	0.652													G|||	2933	0.585663	0.6271	0.6239	5008	,	,		9302	0.3155		0.7873	False		,,,				2504	0.5736															0								G		2825,1579		907,1011,284	40	34	36		102	-2	0.3	14	dbSNP_111	36	6650,1944		2582,1486,229	no	coding-synonymous	PRIMA1	NM_178013.3		3489,2497,513	GG,GA,AA		22.6204,35.8538,27.1042		34/154	94245649	9475,3523	2202	4297	6499	SO:0001819	synonymous_variant	145270				CCDS9912.1	14q32.13	2008-08-29			ENSG00000175785	ENSG00000175785			18319	protein-coding gene	gene with protein product	"membrane anchor of acetylcholinesterase"	613851				11804574	Standard	NM_178013		Approved	PRIMA	uc001ybw.1	Q86XR5	OTTHUMG00000141313	ENST00000393140.1:c.102T>C	14.37:g.94245649A>G			Q86XR6	Silent	SNP	ENST00000393140.1	37	CCDS9912.1																																																																																				0.652	PRIMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280658.1	NM_178013		G	94245649	A	G	94245649	2	3	748	1	0	0	0	0	0	0	0	1	12497	214	8	3		3	PRIMA1	14	94245649	Silent	SNP	A	TCGA-KO-8407-01A-11D-2310-10	23321314	94245649	13103891	58	43899	439	2									
PRIMA1	145270	mdanderson.org	37	14	94245652	94245652	+	Silent	SNP	C	C	T	rs4900195	byFrequency	TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr14:94245652C>T	ENST00000393140.1	-	3	201	c.99G>A	c.(97-99)acG>acA	p.T33T	PRIMA1_ENST00000393143.1_Silent_p.T33T|PRIMA1_ENST00000316227.3_Silent_p.T33T	NM_178013.3	NP_821092.1	Q86XR5	PRIMA_HUMAN	proline rich membrane anchor 1	33					establishment of localization in cell (GO:0051649)|neurotransmitter catabolic process (GO:0042135)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|synapse (GO:0045202)				endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		all_cancers(154;0.127)		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)		GCTCACCATGCGTCACCTGTA	0.647													C|||	1818	0.363019	0.3949	0.3573	5008	,	,		9432	0.2302		0.4692	False		,,,				2504	0.3517															0								C		1764,2638		367,1030,804	40	34	36		99	-8.8	0.2	14	dbSNP_111	36	4098,4500		978,2142,1179	no	coding-synonymous	PRIMA1	NM_178013.3		1345,3172,1983	TT,TC,CC		47.6622,40.0727,45.0923		33/154	94245652	5862,7138	2201	4299	6500	SO:0001819	synonymous_variant	145270				CCDS9912.1	14q32.13	2008-08-29			ENSG00000175785	ENSG00000175785			18319	protein-coding gene	gene with protein product	"membrane anchor of acetylcholinesterase"	613851				11804574	Standard	NM_178013		Approved	PRIMA	uc001ybw.1	Q86XR5	OTTHUMG00000141313	ENST00000393140.1:c.99G>A	14.37:g.94245652C>T			Q86XR6	Silent	SNP	ENST00000393140.1	37	CCDS9912.1																																																																																				0.647	PRIMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280658.1	NM_178013		T	94245652	C	T	94245652	2	4	748	1	0	0	0	0	0	0	0	1	12497	755	27	1		1	PRIMA1	14	94245652	Silent	SNP	C	TCGA-KO-8407-01A-11D-2310-10	3	94245652	13103888	59	43900	439	2									
SPG11	80208	hgsc.bcm.edu;ucsc.edu	37	15	44881589	44881589	+	Silent	SNP	G	G	A			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr15:44881589G>A	ENST00000261866.7	-	28	4783	c.4767C>T	c.(4765-4767)gtC>gtT	p.V1589V	SPG11_ENST00000535302.2_Silent_p.V1589V|SPG11_ENST00000558319.1_Silent_p.V1589V|SPG11_ENST00000558253.1_5'UTR|SPG11_ENST00000427534.2_Silent_p.V1589V	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1589					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)		TGACAGGGTGGACCTTTGTGG	0.458																																																0													94	94	94					15																	44881589		2198	4298	6496	SO:0001819	synonymous_variant	80208				CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"spatacsin"	610844	"KIAA1840"	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.4767C>T	15.37:g.44881589G>A			A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Silent	SNP	ENST00000261866.7	37	CCDS10112.1																																																																																				0.458	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			A	44881589	G	A	44881589	2	1	748	1	0	0	0	0	0	0	0	1	15046	1161	41	2		2	SPG11	15	44881589	Silent	SNP	G	TCGA-KO-8407-01A-11D-2310-10		44881589	57649803	60	43901											
CALML4	91860	broad.mit.edu	37	15	68489865	68489866	+	In_Frame_Ins	INS	-	-	CAT			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr15:68489865_68489866insCAT	ENST00000467889.1	-	4	589_590	c.405_406insATG	c.(403-408)atggtg>atgATGgtg	p.135_136insM	CALML4_ENST00000395465.3_Intron|CALML4_ENST00000448060.2_In_Frame_Ins_p.88_89insM|RP11-315D16.2_ENST00000562767.1_In_Frame_Ins_p.61_62insD|CALML4_ENST00000540479.1_In_Frame_Ins_p.59_60insM	NM_033429.2	NP_219501.2	Q96GE6	CALL4_HUMAN	calmodulin-like 4	135	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4						TCCTTGTCCACCATCAACATGG	0.475																																																0																																										SO:0001652	inframe_insertion	91860			AF308287	CCDS10226.2, CCDS42052.1, CCDS66808.1	15q22.31	2013-01-10			ENSG00000129007	ENSG00000129007		"EF-hand domain containing"	18445	protein-coding gene	gene with protein product							Standard	NM_033429		Approved	MGC4809, NY-BR-20	uc002arb.3	Q96GE6	OTTHUMG00000133287	ENST00000467889.1:c.403_405dupATG	15.37:g.68489866_68489868dupCAT	ENSP00000419081:p.Met135_Met135dup		B4DL15|F8W6Y4|Q6MZY3|Q6N048|Q9H286	In_Frame_Ins	INS	ENST00000467889.1	37	CCDS10226.2																																																																																				0.475	CALML4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257067.3	NM_033429		CAT	68489866	-	CAT	68489865	7	5	748	1	0	1	1	0	0	0	0	0	2590	507	18	0	192	0	CALML4	15	68489865	In_Frame_Ins	INS	-	TCGA-KO-8407-01A-11D-2310-10	23608276	68489865	34041527	61	43902											
ASB7	140460	broad.mit.edu	37	15	101170058	101170058	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr15:101170058C>T	ENST00000332783.7	+	5	1413	c.628C>T	c.(628-630)Cgc>Tgc	p.R210C	ASB7_ENST00000558747.1_Intron|ASB7_ENST00000343276.4_Missense_Mutation_p.R210C	NM_198243.2	NP_937886.1	Q9H672	ASB7_HUMAN	ankyrin repeat and SOCS box containing 7	210					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.R210C(1)		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)			AAACTTGGGTCGCTTAGAAGA	0.473																																																1	Substitution - Missense(1)	lung(1)											123	103	109					15																	101170058		2203	4300	6503	SO:0001583	missense	140460				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.628C>T	15.37:g.101170058C>T	ENSP00000328327:p.Arg210Cys		A8K1E5|Q6GSJ6|Q7Z4S3	Missense_Mutation	SNP	ENST00000332783.7	37	CCDS10387.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.548738	0.86127	.	.	ENSG00000183475	ENST00000332783;ENST00000343276	T;T	0.53206	0.63;0.63	5.53	5.53	0.82687	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.64011	0.2560	L	0.58428	1.81	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.69654	0.965;0.932	T	0.65508	-0.6151	10	0.87932	D	0	-1.3671	14.655	0.68825	0.1454:0.8546:0.0:0.0	.	210;210	Q9H672;Q9H672-2	ASB7_HUMAN;.	C	210	ENSP00000328327:R210C;ENSP00000339819:R210C	ENSP00000328327:R210C	R	+	1	0	ASB7	98987581	0.996000	0.38824	0.999000	0.59377	0.994000	0.84299	3.434000	0.52841	2.755000	0.94549	0.650000	0.86243	CGC		0.473	ASB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313617.1	NM_024708		T	101170058	C	T	101170058	3	4	748	1	0	0	0	0	1	0	0	0	1028	884	31	1	634	1	ASB7	15	101170058	Missense_Mutation	SNP	C	TCGA-KO-8407-01A-11D-2310-10	32680193	101170058	1361334	62	43903											
TPSAB1	7177	mdanderson.org	37	16	1291160	1291160	+	Missense_Mutation	SNP	G	G	T	rs141519544		TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr16:1291160G>T	ENST00000338844.3	+	3	101	c.68G>T	c.(67-69)gGc>gTc	p.G23V	TPSAB1_ENST00000461509.2_Missense_Mutation_p.G30V	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)	p.G23V(1)		NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10		Hepatocellular(780;0.00369)				CCAGCCCCAGGCCAGGCCCTG	0.711																																																1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)											21	23	22					16																	1291160		2193	4291	6484	SO:0001583	missense	7177			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.68G>T	16.37:g.1291160G>T	ENSP00000343577:p.Gly23Val		D2E6R9|D2E6S1|P15157|Q15663|Q6B052|Q9H2Y4|Q9H2Y5|Q9UQI1	Missense_Mutation	SNP	ENST00000338844.3	37	CCDS10431.1	745	0.3411172161172161	111	0.22560975609756098	106	0.292817679558011	262	0.458041958041958	266	0.35092348284960423	G	9.934	1.215703	0.22373	.	.	ENSG00000172236	ENST00000338844;ENST00000461509	D;D	0.86497	-2.13;-2.13	2.84	0.752	0.18398	.	0.709020	0.11654	N	0.542536	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	D	0.56287	0.975	P	0.45660	0.489	T	0.17868	-1.0355	9	0.39692	T	0.17	.	4.3463	0.11134	0.1498:0.3033:0.5468:0.0	.	23	Q15661	TRYB1_HUMAN	V	23;30	ENSP00000343577:G23V;ENSP00000418247:G30V	ENSP00000343577:G23V	G	+	2	0	TPSAB1	1231161	0.001000	0.12720	0.035000	0.18076	0.629000	0.37895	0.668000	0.25127	0.237000	0.21200	0.479000	0.44913	GGC		0.711	TPSAB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000206914.1	NM_003294		T	1291160	G	T	1291160	3	4	748	1	0	0	0	0	1	0	0	0	16428	1203	42	4	74	4	TPSAB1	16	1291160	Missense_Mutation	SNP	G	TCGA-KO-8407-01A-11D-2310-10		1291160	89063593	63	43904			2	112		2	2	23	N	G_C	6.11157e-05
TPSAB1	7177	mdanderson.org	37	16	1291182	1291182	+	Silent	SNP	C	C	T	rs112531166		TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr16:1291182C>T	ENST00000338844.3	+	3	123	c.90C>T	c.(88-90)ggC>ggT	p.G30G	TPSAB1_ENST00000461509.2_Silent_p.G37G	NM_003294.3	NP_003285.2	Q15661	TRYB1_HUMAN	tryptase alpha/beta 1	30					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)				AGCGAGTGGGCATCGTCGGGG	0.711																																																0													34	35	35					16																	1291182		2198	4299	6497	SO:0001819	synonymous_variant	7177			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.90C>T	16.37:g.1291182C>T			D2E6R9|D2E6S1|P15157|Q15663|Q6B052|Q9H2Y4|Q9H2Y5|Q9UQI1	Silent	SNP	ENST00000338844.3	37	CCDS10431.1																																																																																				0.711	TPSAB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000206914.1	NM_003294		T	1291182	C	T	1291182	2	4	748	1	0	0	0	0	0	0	0	1	16428	697	25	2		2	TPSAB1	16	1291182	Silent	SNP	C	TCGA-KO-8407-01A-11D-2310-10	22	1291182	89063571	64	43905			2	112		2	2	23	N	G_C	6.11157e-05
PRSS36	146547	broad.mit.edu	37	16	31154780	31154780	+	Missense_Mutation	SNP	G	G	T			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr16:31154780G>T	ENST00000268281.4	-	8	1041	c.983C>A	c.(982-984)gCc>gAc	p.A328D	PRSS36_ENST00000418068.2_Missense_Mutation_p.A328D|PRSS36_ENST00000569305.1_Missense_Mutation_p.A328D	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	328	Peptidase S1 2. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	serine-type endopeptidase activity (GO:0004252)			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						TGGCCGCGGGGCCTTCCCGCA	0.667																																																0													27	33	31					16																	31154780		2197	4300	6497	SO:0001583	missense	146547			AK075142	CCDS32436.1, CCDS58452.1, CCDS58453.1	16p11.2	2014-09-04			ENSG00000178226			"Serine peptidases / Serine peptidases"	26906	protein-coding gene	gene with protein product	"polyserase 2"	610560				15536082	Standard	NM_173502		Approved	FLJ90661	uc002ebd.4	Q5K4E3	OTTHUMG00000176751	ENST00000268281.4:c.983C>A	16.37:g.31154780G>T	ENSP00000268281:p.Ala328Asp		A8K2P5|B4DW80|B7ZMK8|E7EX56|Q8NBY4	Missense_Mutation	SNP	ENST00000268281.4	37	CCDS32436.1	.	.	.	.	.	.	.	.	.	.	G	8.398	0.841279	0.16891	.	.	ENSG00000178226	ENST00000268281;ENST00000418068	D;D	0.88509	-2.39;-2.39	4.11	3.12	0.35913	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.85318	0.5669	N	0.13327	0.33	0.09310	N	0.999997	D;D;D	0.71674	0.986;0.998;0.998	P;D;D	0.69824	0.823;0.966;0.966	T	0.73145	-0.4075	9	0.02654	T	1	.	9.4339	0.38626	0.0:0.2171:0.7829:0.0	.	328;328;328	E7EX56;B7ZMK8;Q5K4E3	.;.;POLS2_HUMAN	D	328	ENSP00000268281:A328D;ENSP00000407160:A328D	ENSP00000268281:A328D	A	-	2	0	PRSS36	31062281	0.181000	0.23161	0.573000	0.28510	0.893000	0.52053	1.534000	0.36051	0.901000	0.36495	0.491000	0.48974	GCC		0.667	PRSS36-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433542.1	NM_173502		T	31154780	G	T	31154780	3	4	748	1	0	0	0	0	1	0	0	0	12630	1203	42	4	1616	4	PRSS36	16	31154780	Missense_Mutation	SNP	G	TCGA-KO-8407-01A-11D-2310-10	29863598	31154780	59199973	65	43906											
PIGS	94005	bcgsc.ca	37	17	26882056	26882056	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr17:26882056G>A	ENST00000308360.7	-	11	1580	c.1205C>T	c.(1204-1206)cCc>cTc	p.P402L	PIGS_ENST00000543734.1_Missense_Mutation_p.P341L|PIGS_ENST00000395346.2_Missense_Mutation_p.P394L|UNC119_ENST00000301032.4_5'Flank|UNC119_ENST00000335765.4_5'Flank	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	402					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)					AGGCAGCTGGGGCTGAGCAAT	0.542																																																0													53	48	50					17																	26882056		2203	4300	6503	SO:0001583	missense	94005				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.1205C>T	17.37:g.26882056G>A	ENSP00000309430:p.Pro402Leu		Q6UVX6	Missense_Mutation	SNP	ENST00000308360.7	37	CCDS11235.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.80|13.80	2.346509|2.346509	0.41599|0.41599	.|.	.|.	ENSG00000087111|ENSG00000087111	ENST00000395346;ENST00000308360;ENST00000543734|ENST00000268758	T;T;T|.	0.40756|.	1.02;1.02;1.02|.	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	0.247996|0.247996	0.40302|0.40302	N|N	0.001139|0.001139	T|T	0.57344|0.57344	0.2047|0.2047	N|N	0.26042|0.26042	0.785|0.785	0.52099|0.52099	D|D	0.999945|0.999945	B;B|.	0.15930|.	0.015;0.012|.	B;B|.	0.18561|.	0.022;0.013|.	T|T	0.61806|0.61806	-0.6987|-0.6987	10|7	0.21540|0.87932	T|D	0.41|0	-24.0459|-24.0459	14.9809|14.9809	0.71311|0.71311	0.0:0.0:0.8485:0.1515|0.0:0.0:0.8485:0.1515	.|.	402;394|.	Q96S52;Q96S52-2|.	PIGS_HUMAN;.|.	L|S	394;402;341|144	ENSP00000378755:P394L;ENSP00000309430:P402L;ENSP00000438447:P341L|.	ENSP00000309430:P402L|ENSP00000268758:P144S	P|P	-|-	2|1	0|0	PIGS|PIGS	23906183|23906183	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.871000|0.871000	0.50021|0.50021	2.584000|2.584000	0.46102|0.46102	2.538000|2.538000	0.85594|0.85594	0.462000|0.462000	0.41574|0.41574	CCC|CCC		0.542	PIGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255833.3	NM_033198		A	26882056	G	A	26882056	3	1	748	1	0	0	0	0	1	0	0	0	11900	1232	43	2	470	2	PIGS	17	26882056	Missense_Mutation	SNP	G	TCGA-KO-8407-01A-11D-2310-10		26882056	54313154	66	43907											
MYST2	11143	broad.mit.edu;ucsc.edu	37	17	47893250	47893250	+	Missense_Mutation	SNP	C	C	A			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr17:47893250C>A	ENST00000259021.4	+	8	1218	c.938C>A	c.(937-939)gCa>gAa	p.A313E	KAT7_ENST00000435742.2_Missense_Mutation_p.A127E|KAT7_ENST00000510819.1_Missense_Mutation_p.A144E|KAT7_ENST00000454930.2_Missense_Mutation_p.A174E|KAT7_ENST00000513980.1_3'UTR|KAT7_ENST00000424009.2_Missense_Mutation_p.A283E|KAT7_ENST00000509773.1_Missense_Mutation_p.A203E|KAT7_ENST00000503935.2_Missense_Mutation_p.A157E	NM_007067.4	NP_008998.1	O95251	KAT7_HUMAN	K(lysine) acetyltransferase 7	313					chromatin organization (GO:0006325)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|histone H4-K12 acetylation (GO:0043983)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										TTCCGAAGAGCACAAGCCCGG	0.448																																																0													75	75	75					17																	47893250		2203	4300	6503	SO:0001583	missense	11143			AF074606	CCDS11554.1, CCDS56035.1, CCDS56036.1, CCDS56037.1, CCDS56038.1	17q21.32	2013-01-10	2011-07-21	2011-07-21	ENSG00000136504	ENSG00000136504	2.3.1.48	"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing"	17016	protein-coding gene	gene with protein product	"histone acetyltransferase binding to ORC1"	609880	"MYST histone acetyltransferase 2"	MYST2		10438470, 10930412	Standard	NM_001199155		Approved	HBOA, HBO1, ZC2HC7	uc002ipm.3	O95251	OTTHUMG00000161770	ENST00000259021.4:c.938C>A	17.37:g.47893250C>A	ENSP00000259021:p.Ala313Glu		B3KN74|B4DF85|B4DFB4|B4DFE0|B4DGY4|E7ER15|G5E9K7	Missense_Mutation	SNP	ENST00000259021.4	37	CCDS11554.1	.	.	.	.	.	.	.	.	.	.	C	34	5.317390	0.95682	.	.	ENSG00000136504	ENST00000259021;ENST00000454930;ENST00000509773;ENST00000510819;ENST00000424009;ENST00000503935;ENST00000435742	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.84795	0.5551	M	0.87269	2.87	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	0.997;0.991;0.997;0.998;0.999;0.998	D	0.86860	0.2029	9	0.87932	D	0	-13.841	18.8697	0.92308	0.0:1.0:0.0:0.0	.	276;144;203;174;313;283	B4DGY4;B4DFE0;B4DFB4;E7ER15;O95251;G5E9K7	.;.;.;.;KAT7_HUMAN;.	E	313;174;203;144;283;157;127	.	ENSP00000259021:A313E	A	+	2	0	KAT7	45248249	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.926000	0.75835	2.788000	0.95919	0.650000	0.86243	GCA		0.448	KAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366032.1	NM_007067		A	47893250	C	A	47893250	3	1	748	1	0	0	0	0	1	0	0	0	10105	710	25	4	968	4	MYST2	17	47893250	Missense_Mutation	SNP	C	TCGA-KO-8407-01A-11D-2310-10	21011194	47893250	33301960	67	43908											
BPTF	2186	broad.mit.edu;hgsc.bcm.edu	37	17	65909291	65909291	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr17:65909291G>A	ENST00000321892.4	+	13	5730	c.5669G>A	c.(5668-5670)gGc>gAc	p.G1890D	BPTF_ENST00000424123.3_Missense_Mutation_p.G1751D|BPTF_ENST00000306378.6_Missense_Mutation_p.G1764D|BPTF_ENST00000335221.5_Missense_Mutation_p.G1890D			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1890					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)			CCGACCTTTGGCATCACTTGG	0.363																																																0													101	112	108					17																	65909291		2115	4264	6379	SO:0001583	missense	2186			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"Zinc fingers, PHD-type"	3581	protein-coding gene	gene with protein product		601819	"fetal Alzheimer antigen"	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.5669G>A	17.37:g.65909291G>A	ENSP00000315454:p.Gly1890Asp		Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37		.	.	.	.	.	.	.	.	.	.	G	14.70	2.613083	0.46631	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	T;T;T	0.61627	0.09;0.09;0.09	5.77	5.77	0.91146	.	.	.	.	.	T	0.63236	0.2494	N	0.12182	0.205	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.83275	0.996;0.993	T	0.66460	-0.5918	9	0.46703	T	0.11	-12.7977	20.3626	0.98863	0.0:0.0:1.0:0.0	.	1764;1890	Q12830-2;Q12830-4	.;.	D	1764;1890;1890	ENSP00000307208:G1764D;ENSP00000334351:G1890D;ENSP00000315454:G1890D	ENSP00000307208:G1764D	G	+	2	0	BPTF	63339753	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.823000	0.86660	2.885000	0.99019	0.655000	0.94253	GGC		0.363	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		A	65909291	G	A	65909291	3	1	748	1	0	0	0	0	1	0	0	0	1497	1203	42	2	5719	2	BPTF	17	65909291	Missense_Mutation	SNP	G	TCGA-KO-8407-01A-11D-2310-10	18016041	65909291	15285919	68	43909											
FADS6	283985	mdanderson.org	37	17	72889685	72889685	+	Silent	SNP	G	G	A	rs2683274	byFrequency	TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr17:72889685G>A	ENST00000310226.6	-	1	23	c.9C>T	c.(7-9)ccC>ccT	p.P3P		NM_178128.3	NP_835229.2	Q8N9I5	FADS6_HUMAN	fatty acid desaturase 6	9	3 X 6 AA tandem repeat of M-E-P-T-E-P.				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)					TGGGCTCCGTGGGTTCCATGG	0.746																																																0																																										SO:0001819	synonymous_variant	283985			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.9C>T	17.37:g.72889685G>A			Q17RQ7|Q6XYE1	Silent	SNP	ENST00000310226.6	37	CCDS54163.1																																																																																				0.746	FADS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445219.1			A	72889685	G	A	72889685	2	1	748	1	0	0	0	0	0	0	0	1	5370	1335	47	2		2	FADS6	17	72889685	Silent	SNP	G	TCGA-KO-8407-01A-11D-2310-10	6980394	72889685	8305525	69	43910											
SEPT9	10801	broad.mit.edu	37	17	75398360	75398361	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr17:75398360_75398361insG	ENST00000427177.1	+	3	422_423	c.296_297insG	c.(295-300)aaggcgfs	p.A100fs	SEPT9_ENST00000431235.2_5'UTR|SEPT9_ENST00000585930.1_5'Flank|SEPT9_ENST00000591198.1_Frame_Shift_Ins_p.A81fs|SEPT9_ENST00000427674.2_5'UTR|SEPT9_ENST00000588690.1_5'UTR|SEPT9_ENST00000590294.1_Frame_Shift_Ins_p.A82fs|SEPT9_ENST00000592420.1_5'UTR|SEPT9_ENST00000329047.8_Frame_Shift_Ins_p.A82fs|SEPT9_ENST00000449803.2_5'UTR|SEPT9_ENST00000423034.2_Frame_Shift_Ins_p.A93fs	NM_001113491.1	NP_001106963.1	Q9UHD8	SEPT9_HUMAN	septin 9	100					cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|protein heterooligomerization (GO:0051291)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|stress fiber (GO:0001725)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			TCGGGCCCCAAGGCGGCCGAGC	0.688																																																0																																										SO:0001589	frameshift_variant	10801			AB023208	CCDS45790.1, CCDS45791.1, CCDS45792.1, CCDS45793.1, CCDS45794.1, CCDS45795.1, CCDS74166.1	17q25.3	2014-09-17	2005-01-11	2005-01-12	ENSG00000184640	ENSG00000184640		"Septins"	7323	protein-coding gene	gene with protein product	"Ov/Br septin"	604061	"MLL septin-like fusion"	MSF		10339604, 10485469	Standard	NM_006640		Approved	MSF1, KIAA0991, PNUTL4, AF17q25, SeptD1	uc002jts.4	Q9UHD8		ENST00000427177.1:c.298dupG	17.37:g.75398362_75398362dupG	ENSP00000391249:p.Ala100fs		A8K2V3|B3KPM0|B4DTL9|B4E0N2|B4E274|B7Z654|Q96QF3|Q96QF4|Q96QF5|Q9HA04|Q9UG40|Q9Y5W4	Frame_Shift_Ins	INS	ENST00000427177.1	37	CCDS45790.1																																																																																				0.688	SEPT9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000436304.2	NM_006640		G	75398361	-	G	75398360	7	5	748	1	0	1	1	0	0	0	0	0	14077	72	3	0	391	0	SEPT9	17	75398360	Frame_Shift_Ins	INS	-	TCGA-KO-8407-01A-11D-2310-10	2508675	75398360	5796850	70	43911											
GPS1	2873	broad.mit.edu	37	17	80010268	80010268	+	Intron	SNP	T	T	C			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr17:80010268T>C	ENST00000306823.6	+	1	56				RFNG_ENST00000429557.3_5'Flank|RFNG_ENST00000310496.4_5'Flank|GPS1_ENST00000320548.4_5'UTR|GPS1_ENST00000578552.1_Intron|RFNG_ENST00000584838.1_5'Flank|GPS1_ENST00000392358.2_Missense_Mutation_p.V29A|GPS1_ENST00000355130.2_Missense_Mutation_p.V29A			Q13098	CSN1_HUMAN	G protein pathway suppressor 1						cell cycle (GO:0007049)|cullin deneddylation (GO:0010388)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)			breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2)	13	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			TCAGACCTCGTCCTGCCCGGC	0.647																																																0													43	39	40					17																	80010268		2196	4298	6494	SO:0001627	intron_variant	2873				CCDS11800.1, CCDS32774.1	17q25.3	2013-03-14				ENSG00000169727			4549	protein-coding gene	gene with protein product	"COP9 signalosome subunit 1"	601934				9535219	Standard	NM_212492		Approved	COPS1, CSN1	uc002kdl.1	Q13098		ENST00000306823.6:c.33+428T>C	17.37:g.80010268T>C			Q8NA10|Q9BWL1	Missense_Mutation	SNP	ENST00000306823.6	37	CCDS32774.1	.	.	.	.	.	.	.	.	.	.	T	8.338	0.828139	0.16749	.	.	ENSG00000169727	ENST00000392358;ENST00000320548;ENST00000355130	.	.	.	3.33	2.24	0.28232	.	.	.	.	.	T	0.15219	0.0367	N	0.08118	0	0.20764	N	0.99986	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.28427	-1.0044	8	0.07175	T	0.84	-9.2856	7.3296	0.26575	0.0:0.1963:0.0:0.8037	.	29;29	A8K070;Q13098-7	.;.	A	29;57;29	.	ENSP00000313569:V57A	V	+	2	0	GPS1	77603557	0.113000	0.22115	0.585000	0.28666	0.356000	0.29392	0.467000	0.22035	1.141000	0.42275	0.240000	0.17902	GTC		0.647	GPS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442176.1	NM_212492		C	80010268	T	C	80010268	1	2	748	0	1	0	0	0	0	0	0	0	6734	1667	58	3		3	GPS1	17	80010268	Intron	SNP	T	TCGA-KO-8407-01A-11D-2310-10	4611908	80010268	1184942	71	43912											
POTEC	388468	mdanderson.org	37	18	14542888	14542888	+	Silent	SNP	A	A	G	rs543140115	byFrequency	TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr18:14542888A>G	ENST00000358970.5	-	1	257	c.258T>C	c.(256-258)caT>caC	p.H86H	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	86			H -> D (in dbSNP:rs45469098). {ECO:0000269|PubMed:15489334}.							NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AGGAGTTGTCATGGTCTCCAG	0.587													.|||	10	0.00199681	0.0076	0.0	5008	,	,		28860	0.0		0.0	False		,,,				2504	0.0															0													51	57	55					18																	14542888		692	1591	2283	SO:0001819	synonymous_variant	388468			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.258T>C	18.37:g.14542888A>G				Silent	SNP	ENST00000358970.5	37	CCDS45835.1																																																																																				0.587	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		G	14542888	A	G	14542888	2	3	748	1	0	0	0	0	0	0	0	1	12264	214	8	3		3	POTEC	18	14542888	Silent	SNP	A	TCGA-KO-8407-01A-11D-2310-10		14542888	63534360	72	43913											
ASXL3	80816	broad.mit.edu	37	18	31325884	31325884	+	Silent	SNP	T	T	C			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr18:31325884T>C	ENST00000269197.5	+	12	6072	c.6072T>C	c.(6070-6072)ccT>ccC	p.P2024P		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	2024	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						cgcctccccctccccctccac	0.602																																																0													10	13	12					18																	31325884		1819	4049	5868	SO:0001819	synonymous_variant	80816			AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"KIAA1713", "additional sex combs like 3 (Drosophila)"	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.6072T>C	18.37:g.31325884T>C			Q6ZMX6|Q96MU3|Q9UFC5	Silent	SNP	ENST00000269197.5	37	CCDS45847.1																																																																																				0.602	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			C	31325884	T	C	31325884	2	2	748	1	0	0	0	0	0	0	0	1	1068	1538	54	3		3	ASXL3	18	31325884	Silent	SNP	T	TCGA-KO-8407-01A-11D-2310-10	16782996	31325884	46751364	73	43914											
KIAA1632	57724	broad.mit.edu	37	18	43534970	43534970	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr18:43534970T>C	ENST00000282041.5	-	2	432	c.398A>G	c.(397-399)gAa>gGa	p.E133G		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	133					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						CTTGGGGGTTTCTACTTTAGT	0.498																																																0													105	100	101					18																	43534970		1883	4105	5988	SO:0001583	missense	57724			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.398A>G	18.37:g.43534970T>C	ENSP00000282041:p.Glu133Gly		A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	T	12.22	1.873783	0.33069	.	.	ENSG00000152223	ENST00000282041	T	0.13307	2.6	5.76	1.96	0.26148	.	1.429990	0.03915	N	0.282546	T	0.10423	0.0255	N	0.19112	0.55	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.003	T	0.33929	-0.9849	10	0.62326	D	0.03	-0.0288	5.1599	0.15056	0.1319:0.1426:0.0:0.7255	.	133;133	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	G	133	ENSP00000282041:E133G	ENSP00000282041:E133G	E	-	2	0	EPG5	41788968	0.478000	0.25917	0.000000	0.03702	0.044000	0.14063	1.758000	0.38410	0.089000	0.17243	0.460000	0.39030	GAA		0.498	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		C	43534970	T	C	43534970	3	2	748	1	0	0	0	0	1	0	0	0	8251	1783	62	3	7513	3	KIAA1632	18	43534970	Missense_Mutation	SNP	T	TCGA-KO-8407-01A-11D-2310-10	12209086	43534970	34542278	74	43915											
TMX3	54495	ucsc.edu	37	18	66365223	66365223	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr18:66365223C>T	ENST00000299608.2	-	7	754	c.438G>A	c.(436-438)atG>atA	p.M146I	TMX3_ENST00000562706.1_Missense_Mutation_p.M146I|TMX3_ENST00000443099.2_Missense_Mutation_p.M119I	NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN	thioredoxin-related transmembrane protein 3	146					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						GTCTCTTCTGCATATGTTCAA	0.313																																																0													100	91	94					18																	66365223		2203	4300	6503	SO:0001583	missense	54495			BX647846	CCDS32840.1	18q22	2011-10-19	2009-02-23	2009-02-23		ENSG00000166479		"Protein disulfide isomerases"	24718	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 13"		"thioredoxin domain containing 10"	TXNDC10		15623505	Standard	NM_019022		Approved	FLJ20793, KIAA1830, PDIA13	uc002lkf.3	Q96JJ7		ENST00000299608.2:c.438G>A	18.37:g.66365223C>T	ENSP00000299608:p.Met146Ile		B3KV75|Q52LT7|Q8N5J0|Q9NWJ9	Missense_Mutation	SNP	ENST00000299608.2	37	CCDS32840.1	.	.	.	.	.	.	.	.	.	.	C	9.922	1.212389	0.22289	.	.	ENSG00000166479	ENST00000299608;ENST00000544714;ENST00000443099	T;T	0.10668	3.13;2.85	5.33	-0.718	0.11205	.	0.159551	0.56097	D	0.000032	T	0.03739	0.0106	N	0.12746	0.255	0.32577	N	0.529024	B;B;B	0.12013	0.005;0.004;0.001	B;B;B	0.13407	0.009;0.007;0.001	T	0.37150	-0.9718	10	0.14656	T	0.56	.	1.661	0.02792	0.1319:0.3586:0.1288:0.3806	.	119;146;146	B4DIE3;Q96JJ7-2;Q96JJ7	.;.;TMX3_HUMAN	I	146;146;119	ENSP00000299608:M146I;ENSP00000402605:M119I	ENSP00000299608:M146I	M	-	3	0	TMX3	64516203	0.247000	0.23920	0.758000	0.31321	0.957000	0.61999	0.199000	0.17237	-0.385000	0.07833	-0.140000	0.14226	ATG		0.313	TMX3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420155.1	NM_019022		T	66365223	C	T	66365223	3	4	748	1	0	0	0	0	1	0	0	0	16273	710	25	2	966	2	TMX3	18	66365223	Missense_Mutation	SNP	C	TCGA-KO-8407-01A-11D-2310-10	22830253	66365223	11712025	75	43916											
WDR18	57418	mdanderson.org	37	19	984554	984554	+	Silent	SNP	C	C	G	rs4806884	byFrequency	TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr19:984554C>G	ENST00000251289.5	+	1	224	c.201C>G	c.(199-201)ctC>ctG	p.L67L	WDR18_ENST00000591997.1_Intron|WDR18_ENST00000587001.2_Silent_p.L67L	NM_024100.3	NP_077005.2	Q9BV38	WDR18_HUMAN	WD repeat domain 18	67					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|lung(2)|skin(2)	7		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGGGAGCTCCAGCGGAAGG	0.711													.|||	1837	0.366813	0.3283	0.4092	5008	,	,		11315	0.2768		0.5567	False		,,,				2504	0.2863															0								G		1233,2751		232,769,991	5	7	7		201	-1.1	1	19	dbSNP_111	7	3627,4195		956,1715,1240	no	coding-synonymous	WDR18	NM_024100.3		1188,2484,2231	GG,GC,CC		46.3692,30.9488,41.1655		67/433	984554	4860,6946	1992	3911	5903	SO:0001819	synonymous_variant	57418				CCDS12051.1	19p13.3	2013-01-09				ENSG00000065268		"WD repeat domain containing"	17956	protein-coding gene	gene with protein product	"Involved in Processing ITS2 3 homolog (S. cerevisiae)"					22190735	Standard	NM_024100		Approved	Ipi3	uc002lqm.1	Q9BV38		ENST00000251289.5:c.201C>G	19.37:g.984554C>G			O60390|Q9BWR2	Silent	SNP	ENST00000251289.5	37	CCDS12051.1																																																																																				0.711	WDR18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458225.2			G	984554	C	G	984554	2	3	748	1	0	0	0	0	0	0	0	1	17283	842	30	4		4	WDR18	19	984554	Silent	SNP	C	TCGA-KO-8407-01A-11D-2310-10		984554	58144429	76	43917											
COL5A3	50509	mdanderson.org;bcgsc.ca	37	19	10078060	10078060	+	Missense_Mutation	SNP	C	C	T	rs370182126		TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr19:10078060C>T	ENST00000264828.3	-	62	4506	c.4421G>A	c.(4420-4422)cGt>cAt	p.R1474H		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1474	Collagen-like 6.|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)	p.R1474H(1)		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)			AGTGTCTCCACGGGGGCCCAT	0.607																																																1	Substitution - Missense(1)	endometrium(1)						C	HIS/ARG	1,4355		0,1,2177	18	17	17		4421	1.8	1	19		17	0,8546		0,0,4273	no	missense	COL5A3	NM_015719.3	29	0,1,6450	TT,TC,CC		0.0,0.023,0.0078	probably-damaging	1474/1746	10078060	1,12901	2178	4273	6451	SO:0001583	missense	50509			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.4421G>A	19.37:g.10078060C>T	ENSP00000264828:p.Arg1474His		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	C	9.557	1.117512	0.20877	2.3E-4	0.0	ENSG00000080573	ENST00000264828	D	0.94280	-3.39	4.06	1.79	0.24919	.	0.246732	0.29814	N	0.011122	D	0.93530	0.7935	M	0.81341	2.54	0.28887	N	0.894099	D	0.58970	0.984	P	0.52710	0.707	D	0.88317	0.2960	10	0.62326	D	0.03	.	5.0036	0.14277	0.0:0.7142:0.0:0.2858	.	1474	P25940	CO5A3_HUMAN	H	1474	ENSP00000264828:R1474H	ENSP00000264828:R1474H	R	-	2	0	COL5A3	9939060	0.000000	0.05858	0.957000	0.39632	0.065000	0.16274	-0.496000	0.06436	0.929000	0.37192	0.508000	0.49915	CGT		0.607	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		T	10078060	C	T	10078060	3	4	748	1	0	0	0	0	1	0	0	0	3700	536	19	1	840	1	COL5A3	19	10078060	Missense_Mutation	SNP	C	TCGA-KO-8407-01A-11D-2310-10	9093506	10078060	49050923	77	43918											
LILRA1	11024	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	19	55107718	55107718	+	Silent	SNP	C	C	T			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr19:55107718C>T	ENST00000251372.3	+	7	1205	c.1023C>T	c.(1021-1023)aaC>aaT	p.N341N	LILRA1_ENST00000453777.1_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	341	Ig-like C2-type 4.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CAGGAGAGAACGTGACCCTGC	0.607																																																0													81	78	79					19																	55107718		2203	4300	6503	SO:0001819	synonymous_variant	11024			AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.1023C>T	19.37:g.55107718C>T			O75018|Q3MJA6	Silent	SNP	ENST00000251372.3	37	CCDS12901.1																																																																																				0.607	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863		T	55107718	C	T	55107718	2	4	748	1	0	0	0	0	0	0	0	1	8786	535	19	1		1	LILRA1	19	55107718	Silent	SNP	C	TCGA-KO-8407-01A-11D-2310-10	45029658	55107718	4021265	78	43919											
SLC32A1	140679	broad.mit.edu	37	20	37356927	37356927	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr20:37356927C>T	ENST00000217420.1	+	2	1486	c.1223C>T	c.(1222-1224)tCg>tTg	p.S408L		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	408					aging (GO:0007568)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell tip (GO:0051286)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cone cell pedicle (GO:0044316)|dendrite (GO:0030425)|dendrite terminus (GO:0044292)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	gamma-aminobutyric acid:proton symporter activity (GO:0015495)|glycine transmembrane transporter activity (GO:0015187)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CTGGAGAAGTCGCTCTTCCAG	0.657																																																0													56	57	56					20																	37356927		2203	4300	6503	SO:0001583	missense	140679			AL133519	CCDS13307.1	20q11	2013-05-22			ENSG00000101438	ENSG00000101438		"Solute carriers"	11018	protein-coding gene	gene with protein product			"vesicular inhibitory amino acid transporter"	VIAAT		19843525	Standard	NM_080552		Approved	VGAT, bA122O1.1	uc002xjc.3	Q9H598	OTTHUMG00000032457	ENST00000217420.1:c.1223C>T	20.37:g.37356927C>T	ENSP00000217420:p.Ser408Leu		Q8N489	Missense_Mutation	SNP	ENST00000217420.1	37	CCDS13307.1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.013250	0.35511	.	.	ENSG00000101438	ENST00000217420	T	0.02121	4.44	4.45	4.45	0.53987	.	0.125962	0.56097	D	0.000035	T	0.01800	0.0057	N	0.16743	0.435	0.58432	D	0.999998	B	0.20459	0.045	B	0.12837	0.008	T	0.51988	-0.8635	10	0.08381	T	0.77	-9.6575	14.9208	0.70835	0.0:1.0:0.0:0.0	.	408	Q9H598	VIAAT_HUMAN	L	408	ENSP00000217420:S408L	ENSP00000217420:S408L	S	+	2	0	SLC32A1	36790341	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.968000	0.70413	2.202000	0.70862	0.563000	0.77884	TCG		0.657	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079206.1	NM_080552		T	37356927	C	T	37356927	3	4	748	1	0	0	0	0	1	0	0	0	14571	893	31	1	1229	1	SLC32A1	20	37356927	Missense_Mutation	SNP	C	TCGA-KO-8407-01A-11D-2310-10		37356927	25668593	79	43920											
APP	351	broad.mit.edu	37	21	27372385	27372386	+	Frame_Shift_Ins	INS	-	-	C	rs141526793		TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr21:27372385_27372386insC	ENST00000346798.3	-	7	1010_1011	c.977_978insG	c.(976-978)ggcfs	p.G326fs	APP_ENST00000440126.3_Frame_Shift_Ins_p.G321fs|APP_ENST00000439274.2_Frame_Shift_Ins_p.G270fs|APP_ENST00000357903.3_Frame_Shift_Ins_p.G326fs|APP_ENST00000448388.2_Intron|APP_ENST00000359726.3_Intron|APP_ENST00000348990.5_Intron|APP_ENST00000358918.3_Frame_Shift_Ins_p.G326fs|APP_ENST00000354192.3_Intron	NM_000484.3	NP_000475.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	326	BPTI/Kunitz inhibitor. {ECO:0000255|PROSITE-ProRule:PRU00031}.				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)				TGTTCCGGTTGCCGCCACATCC	0.574																																																0																																										SO:0001589	frameshift_variant	351			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.978dupG	21.37:g.27372387_27372387dupC	ENSP00000284981:p.Gly326fs		B2R5V1|B4DII8|D3DSD1|D3DSD2|D3DSD3|P09000|P78438|Q13764|Q13778|Q13793|Q16011|Q16014|Q16019|Q16020|Q6GSC0|Q8WZ99|Q9BT38|Q9UC33|Q9UCA9|Q9UCB6|Q9UCC8|Q9UCD1|Q9UQ58	Frame_Shift_Ins	INS	ENST00000346798.3	37	CCDS13576.1																																																																																				0.574	APP-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171340.1	NM_000484		C	27372386	-	C	27372385	7	5	748	1	0	1	1	0	0	0	0	0	815	1306	46	0	1382	0	APP	21	27372385	Frame_Shift_Ins	INS	-	TCGA-KO-8407-01A-11D-2310-10		27372385	20757510	80	43921											
USP16	10600	broad.mit.edu	37	21	30409627	30409627	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr21:30409627A>G	ENST00000334352.4	+	7	710	c.479A>G	c.(478-480)gAa>gGa	p.E160G	USP16_ENST00000399976.2_Missense_Mutation_p.E160G|USP16_ENST00000399975.3_Missense_Mutation_p.E159G|USP16_ENST00000535828.1_Intron	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						ATTGAACTTGAAAATAAAAAA	0.303																																					Melanoma(92;625 1444 27493 34101 44971)											0													46	53	51					21																	30409627		2201	4299	6500	SO:0001583	missense	10600			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.479A>G	21.37:g.30409627A>G	ENSP00000334808:p.Glu160Gly			Missense_Mutation	SNP	ENST00000334352.4	37	CCDS13583.1	.	.	.	.	.	.	.	.	.	.	A	14.61	2.587621	0.46110	.	.	ENSG00000156256	ENST00000399975;ENST00000399976;ENST00000334352	T;T;T	0.07021	3.23;3.24;3.24	5.9	5.9	0.94986	.	0.275088	0.41097	D	0.000948	T	0.05868	0.0153	N	0.14661	0.345	0.80722	D	1	B;B;B	0.12013	0.003;0.002;0.005	B;B;B	0.09377	0.003;0.004;0.002	T	0.42068	-0.9473	10	0.32370	T	0.25	.	12.1736	0.54173	0.9318:0.0:0.0682:0.0	.	145;159;160	Q9Y5T5-3;Q9Y5T5-2;Q9Y5T5	.;.;UBP16_HUMAN	G	159;160;160	ENSP00000382857:E159G;ENSP00000382858:E160G;ENSP00000334808:E160G	ENSP00000334808:E160G	E	+	2	0	USP16	29331498	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	2.616000	0.46376	2.251000	0.74343	0.528000	0.53228	GAA		0.303	USP16-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171847.1			G	30409627	A	G	30409627	3	3	748	1	0	0	0	0	1	0	0	0	17052	246	9	3	497	3	USP16	21	30409627	Missense_Mutation	SNP	A	TCGA-KO-8407-01A-11D-2310-10	3037242	30409627	17720268	81	43922											
KRTAP10-6	386674	mdanderson.org	37	21	46011987	46011987	+	Missense_Mutation	SNP	A	A	G	rs201334923	byFrequency	TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr21:46011987A>G	ENST00000400368.1	-	1	399	c.379T>C	c.(379-381)Tcc>Ccc	p.S127P	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	127	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						CAGCAGACGGACACACAGCAC	0.642													.|||	980	0.195687	0.3873	0.1282	5008	,	,		18410	0.2401		0.0855	False		,,,				2504	0.0521															0								G	,PRO/SER	346,3600		9,328,1636	65	101	89		,379	-1.7	0	21	dbSNP_132	89	122,8214		6,110,4052	no	intron,missense	TSPEAR,KRTAP10-6	NM_144991.2,NM_198688.2	,74	15,438,5688	GG,GA,AA		1.4635,8.7684,3.8105	,benign	,127/366	46011987	468,11814	1973	4168	6141	SO:0001583	missense	386674			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.379T>C	21.37:g.46011987A>G	ENSP00000383219:p.Ser127Pro			Missense_Mutation	SNP	ENST00000400368.1	37	CCDS42959.1	.	.	.	.	.	.	.	.	.	.	g	0.017	-1.506709	0.00992	0.087684	0.014635	ENSG00000188155	ENST00000400368	T	0.01397	4.94	2.44	-1.71	0.08133	.	.	.	.	.	T	0.00039	0.0001	N	0.00793	-1.18	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.39522	-0.9610	8	0.02654	T	1	.	2.6267	0.04931	0.3892:0.0:0.2528:0.358	.	127	P60371	KR106_HUMAN	P	127	ENSP00000383219:S127P	ENSP00000383219:S127P	S	-	1	0	KRTAP10-6	44836415	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-0.886000	0.04157	-0.713000	0.04981	-1.032000	0.02404	TCC		0.642	KRTAP10-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128037.1	NM_198688		G	46011987	A	G	46011987	3	3	748	1	0	0	0	0	1	0	0	0	8515	275	10	3	722	3	KRTAP10-6	21	46011987	Missense_Mutation	SNP	A	TCGA-KO-8407-01A-11D-2310-10	15602360	46011987	2117908	82	43923											
MTMR3	8897	mdanderson.org	37	22	30419455	30419455	+	Intron	SNP	C	C	T			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr22:30419455C>T	ENST00000401950.2	+	19	3767				MTMR3_ENST00000406629.1_Silent_p.D1108D|MTMR3_ENST00000351488.3_Intron|MTMR3_ENST00000323630.5_Intron|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000333027.3_Silent_p.D1108D|CTA-85E5.10_ENST00000453743.2_RNA	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3						peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			GGGACACTGACCGTGTTGATC	0.498																																																0													217	179	192					22																	30419455		2203	4300	6503	SO:0001627	intron_variant	8897			U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"Zinc fingers, FYVE domain containing", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.3425+769C>T	22.37:g.30419455C>T			A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Silent	SNP	ENST00000401950.2	37	CCDS13870.1																																																																																				0.498	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1	NM_021090		T	30419455	C	T	30419455	1	4	748	0	1	0	0	0	0	0	0	0	9947	506	18	2		2	MTMR3	22	30419455	Intron	SNP	C	TCGA-KO-8407-01A-11D-2310-10		30419455	20885111	83	43924											
SEC14L3	266629	broad.mit.edu	37	22	30857663	30857664	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr22:30857663_30857664insC	ENST00000215812.4	-	10	879_880	c.789_790insG	c.(787-792)gagatcfs	p.I264fs	SEC14L3_ENST00000401751.1_Frame_Shift_Ins_p.I205fs|SEC14L3_ENST00000540910.1_Frame_Shift_Ins_p.I187fs|SEC14L3_ENST00000402286.1_Frame_Shift_Ins_p.I187fs|SEC14L3_ENST00000415957.2_Frame_Shift_Ins_p.I205fs|SEC14L3_ENST00000403066.1_Frame_Shift_Ins_p.I205fs|SEC14L3_ENST00000539629.1_Frame_Shift_Ins_p.I205fs	NM_174975.4	NP_777635.1	Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	264						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)	GACTTGGGGATCTCCCCGCCAT	0.54																																					Esophageal Squamous(108;290 1516 3584 23771 37333)											0																																										SO:0001589	frameshift_variant	266629			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.790dupG	22.37:g.30857664_30857664dupC	ENSP00000215812:p.Ile264fs		E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Frame_Shift_Ins	INS	ENST00000215812.4	37	CCDS13877.1																																																																																				0.54	SEC14L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321950.4	NM_174975		C	30857664	-	C	30857663	7	5	748	1	0	1	1	0	0	0	0	0	13989	1435	50	0	424	0	SEC14L3	22	30857663	Frame_Shift_Ins	INS	-	TCGA-KO-8407-01A-11D-2310-10	438208	30857663	20446903	84	43925											
RBX1	9978	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	22	41368482	41368482	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr22:41368482A>G	ENST00000216225.8	+	5	357	c.317A>G	c.(316-318)tAt>tGt	p.Y106C		NM_014248.3	NP_055063.1	P62877	RBX1_HUMAN	ring-box 1, E3 ubiquitin protein ligase	106					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						TCTTTCAGGTATGGGCACTAG	0.328																																																0													208	194	199					22																	41368482		2202	4300	6502	SO:0001583	missense	9978			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.317A>G	22.37:g.41368482A>G	ENSP00000216225:p.Tyr106Cys		B2RDY1|Q8N6Z8|Q9D1S2|Q9WUK9|Q9Y254	Missense_Mutation	SNP	ENST00000216225.8	37	CCDS14009.1	.	.	.	.	.	.	.	.	.	.	A	13.89	2.373090	0.42105	.	.	ENSG00000100387	ENST00000216225	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.47563	0.1452	L	0.28115	0.83	0.80722	D	1	B	0.25235	0.121	B	0.29785	0.107	T	0.44967	-0.9293	9	0.48119	T	0.1	.	13.0206	0.58784	1.0:0.0:0.0:0.0	.	106	P62877	RBX1_HUMAN	C	106	.	ENSP00000216225:Y106C	Y	+	2	0	RBX1	39698428	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	4.464000	0.60134	2.326000	0.78906	0.533000	0.62120	TAT		0.328	RBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322149.1	NM_014248		G	41368482	A	G	41368482	3	3	748	1	0	0	0	0	1	0	0	0	13171	449	16	3	335	3	RBX1	22	41368482	Missense_Mutation	SNP	A	TCGA-KO-8407-01A-11D-2310-10	10510819	41368482	9936084	85	43926											
CLCN5	1184	bcgsc.ca	37	X	49834549	49834549	+	5'UTR	SNP	A	A	G			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chrX:49834549A>G	ENST00000307367.2	+	0	260				CLCN5_ENST00000376108.3_5'UTR|CLCN5_ENST00000376088.3_Missense_Mutation_p.N60S|CLCN5_ENST00000376091.3_Missense_Mutation_p.N60S			P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5						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)					AAGTCGTACAATGGTGGAGGA	0.393																																																0													88	69	76					X																	49834549		2203	4300	6503	SO:0001623	5_prime_UTR_variant	1184			X91906	CCDS14328.1, CCDS48115.1, CCDS69763.1	Xp11.23-p11.22	2012-09-26	2012-02-23		ENSG00000171365	ENSG00000171365		"Ion channels / Chloride channels : Voltage-sensitive"	2023	protein-coding gene	gene with protein product	"Dent disease"	300008	"nephrolithiasis 2, X-linked", "nephrolithiasis 1 (X-linked)", "chloride channel 5"	NPHL2, NPHL1		7874126, 8111383, 8099916, 8559248, 9602200	Standard	NM_001272102		Approved	DENTS, XLRH, hClC-K2, hCIC-K2, CLC5, XRN, ClC-5	uc004doq.1	P51795	OTTHUMG00000021514	ENST00000307367.2:c.-32A>G	X.37:g.49834549A>G			A1L475|B3KPN6|Q5JQD5|Q7RTN8	Missense_Mutation	SNP	ENST00000307367.2	37	CCDS14328.1	.	.	.	.	.	.	.	.	.	.	A	14.51	2.556264	0.45487	.	.	ENSG00000171365	ENST00000376088;ENST00000376091	D;D	0.89617	-2.54;-2.54	5.7	5.7	0.88788	.	.	.	.	.	D	0.82416	0.5032	.	.	.	0.80722	D	1	B	0.28291	0.206	B	0.25291	0.059	T	0.78507	-0.2177	8	0.19590	T	0.45	-23.9209	13.8096	0.63253	1.0:0.0:0.0:0.0	.	60	P51795-2	.	S	60	ENSP00000365256:N60S;ENSP00000365259:N60S	ENSP00000365256:N60S	N	+	2	0	CLCN5	49721289	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	6.184000	0.72008	1.906000	0.55180	0.412000	0.27726	AAT		0.393	CLCN5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056544.1			G	49834549	A	G	49834549	1	3	748	0	1	0	0	0	0	0	0	0	3468	101	4	3		3	CLCN5	23	49834549	5'UTR	SNP	A	TCGA-KO-8407-01A-11D-2310-10		49834549	105436011	86	43927											
NHSL2	340527	broad.mit.edu	37	X	71360546	71360546	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chrX:71360546G>A	ENST00000373677.1	+	2	3312	c.2050G>A	c.(2050-2052)Gat>Aat	p.D684N	NHSL2_ENST00000540800.1_Missense_Mutation_p.D1050N|NHSL2_ENST00000510661.1_Missense_Mutation_p.D819N|NHSL2_ENST00000535692.1_Missense_Mutation_p.D684N			Q5HYW2	NHSL2_HUMAN	NHS-like 2	684										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					CGCCACCGGCGATGACCTGCA	0.552																																																0													54	49	51					X																	71360546		2203	4300	6503	SO:0001583	missense	340527					Xq13.1	2009-02-18			ENSG00000204131	ENSG00000204131			33737	protein-coding gene	gene with protein product							Standard	NM_001013627		Approved		uc011mqa.2	Q5HYW2	OTTHUMG00000021807	ENST00000373677.1:c.2050G>A	X.37:g.71360546G>A	ENSP00000362781:p.Asp684Asn		B2RN94	Missense_Mutation	SNP	ENST00000373677.1	37		.	.	.	.	.	.	.	.	.	.	G	13.38	2.218648	0.39201	.	.	ENSG00000204131	ENST00000540800;ENST00000373677;ENST00000510661;ENST00000535692	T;T;T;T	0.50548	1.51;0.79;0.74;0.79	6.08	2.02	0.26589	.	0.624103	0.15395	N	0.264638	T	0.37705	0.1013	L	0.51422	1.61	0.09310	N	1	B;B;B	0.18741	0.017;0.03;0.007	B;B;B	0.09377	0.004;0.004;0.003	T	0.22906	-1.0203	10	0.30078	T	0.28	0.5596	7.9991	0.30286	0.4905:0.0:0.5095:0.0	.	1050;819;684	F5H593;D6RBM4;Q5HYW2	.;.;NHSL2_HUMAN	N	1050;684;819;684	ENSP00000444617:D1050N;ENSP00000362781:D684N;ENSP00000424079:D819N;ENSP00000444914:D684N	ENSP00000362781:D684N	D	+	1	0	NHSL2	71277271	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.211000	0.17474	-0.054000	0.13266	0.600000	0.82982	GAT		0.552	NHSL2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057170.1	NM_001013627		A	71360546	G	A	71360546	3	1	748	1	0	0	0	0	1	0	0	0	10414	1058	37	1	3170	1	NHSL2	23	71360546	Missense_Mutation	SNP	G	TCGA-KO-8407-01A-11D-2310-10	21525997	71360546	83910014	87	43928											
TMEM31	203562	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	X	102967204	102967204	+	Missense_Mutation	SNP	G	G	C			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chrX:102967204G>C	ENST00000319560.6	+	2	209	c.18G>C	c.(16-18)aaG>aaC	p.K6N	GLRA4_ENST00000372617.4_Intron	NM_182541.2	NP_872347.2	Q5JXX7	TMM31_HUMAN	transmembrane protein 31	6						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)	7						TAACAGAAAAGAGTGAGGGAG	0.413																																																0													137	107	117					X																	102967204		2203	4300	6503	SO:0001583	missense	203562			BC029575	CCDS35359.1	Xq22.2	2008-02-05			ENSG00000179363	ENSG00000179363			28601	protein-coding gene	gene with protein product						12477932	Standard	NM_182541		Approved	MGC39655	uc004elh.3	Q5JXX7	OTTHUMG00000022109	ENST00000319560.6:c.18G>C	X.37:g.102967204G>C	ENSP00000316940:p.Lys6Asn		Q8NHR4	Missense_Mutation	SNP	ENST00000319560.6	37	CCDS35359.1	.	.	.	.	.	.	.	.	.	.	g	6.426	0.446660	0.12223	.	.	ENSG00000179363	ENST00000319560	.	.	.	4.13	1.22	0.21188	.	0.454099	0.16291	N	0.220916	T	0.18341	0.0440	N	0.08118	0	0.09310	N	1	B	0.23735	0.09	B	0.27262	0.078	T	0.20840	-1.0263	9	0.87932	D	0	0.0061	6.6205	0.22800	0.0:0.3729:0.4321:0.195	.	6	Q5JXX7	TMM31_HUMAN	N	6	.	ENSP00000316940:K6N	K	+	3	2	TMEM31	102853860	0.013000	0.17824	0.065000	0.19835	0.467000	0.32768	0.461000	0.21940	0.128000	0.18479	0.525000	0.51046	AAG		0.413	TMEM31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057741.1	NM_182541		C	102967204	G	C	102967204	3	2	748	1	0	0	0	0	1	0	0	0	16160	933	33	4	20	4	TMEM31	23	102967204	Missense_Mutation	SNP	G	TCGA-KO-8407-01A-11D-2310-10	31606658	102967204	52303356	88	43929											
SKI	6497	bcgsc.ca	37	1	2235304	2235304	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr1:2235304A>G	ENST00000378536.4	+	4	1309	c.1237A>G	c.(1237-1239)Aca>Gca	p.T413A		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	SKI proto-oncogene	413					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)		GAGCTTTGAGACAGCCGTGGC	0.692																																					Ovarian(177;144 1678 13697 20086 27838 40755)											0													13	17	16					1																	2235304		2148	4218	6366	SO:0001583	missense	6497			X15218	CCDS39.1	1p36.33	2014-06-25	2014-06-25		ENSG00000157933	ENSG00000157933		"SKI transcriptional corepressors"	10896	protein-coding gene	gene with protein product		164780	"v-ski avian sarcoma viral oncogene homolog"			2762147	Standard	NM_003036		Approved		uc001aja.4	P12755	OTTHUMG00000001407	ENST00000378536.4:c.1237A>G	1.37:g.2235304A>G	ENSP00000367797:p.Thr413Ala		Q5SYT7	Missense_Mutation	SNP	ENST00000378536.4	37	CCDS39.1	.	.	.	.	.	.	.	.	.	.	A	13.87	2.366241	0.41902	.	.	ENSG00000157933	ENST00000378536	D	0.95588	-3.75	4.61	3.48	0.39840	.	0.353173	0.31041	N	0.008379	D	0.90515	0.7028	L	0.34521	1.04	0.21740	N	0.999561	B	0.06786	0.001	B	0.04013	0.001	T	0.80322	-0.1431	10	0.33141	T	0.24	-4.0181	9.436	0.38639	0.9147:0.0:0.0853:0.0	.	413	P12755	SKI_HUMAN	A	413	ENSP00000367797:T413A	ENSP00000367797:T413A	T	+	1	0	SKI	2225164	1.000000	0.71417	0.944000	0.38274	0.918000	0.54935	4.734000	0.62043	0.728000	0.32382	0.459000	0.35465	ACA		0.692	SKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004070.1	NM_003036		G	2235304	A	G	2235304	3	3	749	1	0	0	0	0	1	0	0	0	14363	275	10	3	1251	3	SKI	1	2235304	Missense_Mutation	SNP	A	TCGA-KO-8408-01A-11D-2310-10		2235304	247015317	1	43930											
PRDM16	63976	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	3328864	3328864	+	Missense_Mutation	SNP	G	G	C			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr1:3328864G>C	ENST00000270722.5	+	9	2152	c.2103G>C	c.(2101-2103)gaG>gaC	p.E701D	PRDM16_ENST00000378398.3_Missense_Mutation_p.E702D|PRDM16_ENST00000378391.2_Missense_Mutation_p.E701D|PRDM16_ENST00000514189.1_Missense_Mutation_p.E702D|PRDM16_ENST00000442529.2_Missense_Mutation_p.E701D|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000511072.1_Missense_Mutation_p.E702D|PRDM16_ENST00000441472.2_Missense_Mutation_p.E701D			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	701	Interaction with CTBP1 and CTBP2. {ECO:0000250}.				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)		CCATTGCCGAGAAGTACTTTG	0.627			T	EVI1	"MDS, AML"																																		Dom	yes		1	1p36.23-p33	63976	PR domain containing 16		L	0													63	77	73					1																	3328864		2059	4188	6247	SO:0001583	missense	63976			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.2103G>C	1.37:g.3328864G>C	ENSP00000270722:p.Glu701Asp		A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Missense_Mutation	SNP	ENST00000270722.5	37	CCDS41236.2	.	.	.	.	.	.	.	.	.	.	G	17.26	3.344267	0.61073	.	.	ENSG00000142611	ENST00000511072;ENST00000378398;ENST00000441472;ENST00000442529;ENST00000378391;ENST00000514189;ENST00000270722;ENST00000512462;ENST00000408992;ENST00000509860	T;T;T;T;T;T;T;T;T	0.08896	3.06;3.07;3.08;3.07;3.06;3.1;3.08;3.04;3.04	4.94	4.02	0.46733	.	0.000000	0.51477	U	0.000094	T	0.25121	0.0610	M	0.65975	2.015	0.48341	D	0.999638	D;D;D;D	0.76494	0.997;0.999;0.999;0.998	D;D;D;D	0.79784	0.978;0.993;0.974;0.984	T	0.00875	-1.1531	10	0.40728	T	0.16	.	13.4634	0.61239	0.0765:0.0:0.9235:0.0	.	701;701;701;701	Q9HAZ2;Q9HAZ2-2;F8WEV3;D3YTA5	PRD16_HUMAN;.;.;.	D	702;702;701;701;701;702;701;517;517;510	ENSP00000426975:E702D;ENSP00000367651:E702D;ENSP00000407968:E701D;ENSP00000405253:E701D;ENSP00000367643:E701D;ENSP00000421400:E702D;ENSP00000270722:E701D;ENSP00000422504:E517D;ENSP00000425796:E510D	ENSP00000270722:E701D	E	+	3	2	PRDM16	3318724	1.000000	0.71417	0.999000	0.59377	0.901000	0.52897	2.613000	0.46351	1.214000	0.43395	0.590000	0.80494	GAG		0.627	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114		C	3328864	G	C	3328864	3	2	749	1	0	0	0	0	1	0	0	0	12462	933	33	4	2137	4	PRDM16	1	3328864	Missense_Mutation	SNP	G	TCGA-KO-8408-01A-11D-2310-10	1093560	3328864	245921757	2	43931											
UBXN11	91544	mdanderson.org	37	1	26608852	26608852	+	Missense_Mutation	SNP	G	G	A	rs61775089		TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr1:26608852G>A	ENST00000374222.1	-	16	1965	c.1501C>T	c.(1501-1503)Ccc>Tcc	p.P501S	UBXN11_ENST00000357089.4_Missense_Mutation_p.P468S|UBXN11_ENST00000314675.7_Missense_Mutation_p.P381S|UBXN11_ENST00000374217.2_Missense_Mutation_p.P468S|UBXN11_ENST00000374223.1_Missense_Mutation_p.P258S|UBXN11_ENST00000374221.3_Missense_Mutation_p.P501S			Q5T124	UBX11_HUMAN	UBX domain protein 11	501	3 X 8 AA tandem repeats of P-G-P-G-P-G-P- S.|Pro-rich.		Missing.|P -> S (in dbSNP:rs17838088).			cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.G490_P515delGPGPSPGPGPGPSPGPGPGPSPCPGP(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						ccgggactggggccgggaccg	0.731																																																1	Deletion - In frame(1)	ovary(1)											20	23	22					1																	26608852		1699	3915	5614	SO:0001583	missense	91544			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.1501C>T	1.37:g.26608852G>A	ENSP00000363339:p.Pro501Ser		D3DPK6|Q5T117|Q5T120|Q5T125|Q5T126|Q5T129|Q5T131|Q5T133|Q63HM6|Q71RB3|Q8IY27|Q8N1L6|Q8N9M4|Q8NA18|Q8NFE3|Q8NFE4|Q8NFE6	Missense_Mutation	SNP	ENST00000374222.1	37	CCDS41288.1	600	0.27472527472527475	141	0.2865853658536585	101	0.27900552486187846	95	0.1660839160839161	263	0.3469656992084433	-	8.946	0.967087	0.18659	.	.	ENSG00000158062	ENST00000314675;ENST00000374223;ENST00000357089;ENST00000374221;ENST00000374222;ENST00000374217	T;T;T;T;T;T	0.26957	1.8;1.7;2.08;2.12;2.12;2.08	.	.	.	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.58432	P	4.000000000004E-6	.	.	.	.	.	.	T	0.44003	-0.9356	4	0.02654	T	1	.	.	.	.	rs61775089	468;463;381;501	Q5T124-2;Q5T124-4;Q5T124-3;Q5T124	.;.;.;UBX11_HUMAN	S	381;258;468;501;501;468	ENSP00000324721:P381S;ENSP00000363340:P258S;ENSP00000349601:P468S;ENSP00000363338:P501S;ENSP00000363339:P501S;ENSP00000363334:P468S	ENSP00000324721:P381S	P	-	1	0	UBXN11	26481439	0.000000	0.05858	0.166000	0.22797	0.173000	0.22820	-0.536000	0.06135	0.000000	0.14550	0.000000	0.15137	CCC		0.731	UBXN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000009500.1	NM_145345		A	26608852	G	A	26608852	3	1	749	1	0	0	0	0	1	0	0	0	16918	1232	43	2	65	2	UBXN11	1	26608852	Missense_Mutation	SNP	G	TCGA-KO-8408-01A-11D-2310-10	23279988	26608852	222641769	3	43932											
PLEKHA6	22874	broad.mit.edu	37	1	204226633	204226633	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr1:204226633G>A	ENST00000272203.3	-	9	1688	c.1372C>T	c.(1372-1374)Cgc>Tgc	p.R458C	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.R478C	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	458										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)			CTGGGTGAGCGGGGCACAGAG	0.667																																																0													20	19	19					1																	204226633		2186	4294	6480	SO:0001583	missense	22874			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.1372C>T	1.37:g.204226633G>A	ENSP00000272203:p.Arg458Cys		A7MD51|Q5VTI6	Missense_Mutation	SNP	ENST00000272203.3	37	CCDS1444.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.307563	0.81247	.	.	ENSG00000143850	ENST00000272203;ENST00000414478	T;T	0.11495	2.77;3.23	5.4	5.4	0.78164	.	0.051985	0.85682	D	0.000000	T	0.32133	0.0819	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.988	T	0.00675	-1.1615	10	0.59425	D	0.04	-26.4644	19.1454	0.93463	0.0:0.0:1.0:0.0	.	478;458	Q5VTI5;Q9Y2H5	.;PKHA6_HUMAN	C	458;478	ENSP00000272203:R458C;ENSP00000402046:R478C	ENSP00000272203:R458C	R	-	1	0	PLEKHA6	202493256	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.369000	0.73109	2.688000	0.91661	0.655000	0.94253	CGC		0.667	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087889.3	NM_014935		A	204226633	G	A	204226633	3	1	749	1	0	0	0	0	1	0	0	0	12062	1116	39	1	1830	1	PLEKHA6	1	204226633	Missense_Mutation	SNP	G	TCGA-KO-8408-01A-11D-2310-10	177617781	204226633	45023988	4	43933											
PROX1	5629	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	1	214171243	214171243	+	Silent	SNP	T	T	A			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr1:214171243T>A	ENST00000366958.4	+	2	1973	c.1365T>A	c.(1363-1365)ccT>ccA	p.P455P	PROX1_ENST00000435016.1_Silent_p.P455P|PROX1_ENST00000498508.2_Silent_p.P455P|PROX1_ENST00000261454.4_Silent_p.P455P	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	455				PAA -> LV (in Ref. 1; AAC50656). {ECO:0000305}.	aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|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)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CCTCCGGCCCTGCCGCTGGCG	0.637																																																0													61	74	69					1																	214171243		2203	4300	6503	SO:0001819	synonymous_variant	5629			U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"Homeoboxes / PROS class"	9459	protein-coding gene	gene with protein product		601546	"prospero-related homeobox 1"			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.1365T>A	1.37:g.214171243T>A			A6NK29|A8K2B1|Q5SW76|Q8TB91	Silent	SNP	ENST00000366958.4	37	CCDS31021.1																																																																																				0.637	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		A	214171243	T	A	214171243	2	1	749	1	0	0	0	0	0	0	0	1	12565	1567	55	5		5	PROX1	1	214171243	Silent	SNP	T	TCGA-KO-8408-01A-11D-2310-10	9944610	214171243	35079378	5	43934											
SH2D6	284948	broad.mit.edu	37	2	85662144	85662144	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr2:85662144delA	ENST00000340326.2	+	1	227	c.66delA	c.(64-66)ccafs	p.P23fs	Y_RNA_ENST00000384478.1_RNA|SH2D6_ENST00000481426.2_Intron|SH2D6_ENST00000389938.2_Intron	NM_198482.1	NP_940884.1	Q7Z4S9	SH2D6_HUMAN	SH2 domain containing 6	23	Pro-rich.									central_nervous_system(1)|lung(2)	3						Gcccacccccaccccacccca	0.637																																																0													2	3	3					2																	85662144		1587	3412	4999	SO:0001589	frameshift_variant	284948			AF450483	CCDS1976.1	2p11.2	2013-02-14			ENSG00000152292	ENSG00000152292		"SH2 domain containing"	30439	protein-coding gene	gene with protein product						12477932	Standard	NM_198482		Approved	FLJ35993	uc002spq.3	Q7Z4S9	OTTHUMG00000130176	ENST00000340326.2:c.66delA	2.37:g.85662144delA	ENSP00000341867:p.Pro23fs		A6ND14|Q6R306	Frame_Shift_Del	DEL	ENST00000340326.2	37	CCDS1976.1																																																																																				0.637	SH2D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252493.2	NM_198482		-	85662144	A	-	85662144	7	5	749	1	0	1	0	1	0	0	0	0	14244	146	6	0	68	0	SH2D6	2	85662144	Frame_Shift_Del	DEL	A	TCGA-KO-8408-01A-11D-2310-10		85662144	157537229	6	43935											
RGPD2	729857	broad.mit.edu	37	2	88125234	88125234	+	Silent	SNP	T	T	C	rs550032815	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr2:88125234T>C	ENST00000398146.3	-	1	237	c.15A>G	c.(13-15)aaA>aaG	p.K5K	RGPD2_ENST00000327544.6_5'UTR|RGPD2_ENST00000420840.2_Intron			P0DJD1	RGPD2_HUMAN	RANBP2-like and GRIP domain containing 2	5					protein targeting to Golgi (GO:0000042)					breast(1)|pancreas(1)	2						CCCCGTAGGCTTTGCTGCGCC	0.667													.|||	4	0.000798722	0.0	0.0	5008	,	,		10105	0.0		0.002	False		,,,				2504	0.002															0													36	56	50					2																	88125234		692	1591	2283	SO:0001819	synonymous_variant	729857				CCDS42710.1, CCDS42710.2	2p11.2	2013-01-10			ENSG00000185304	ENSG00000185304		"Tetratricopeptide (TTC) repeat domain containing"	32415	protein-coding gene	gene with protein product		612705				15710750, 15815621	Standard	NM_001078170		Approved	RGP2, RANBP2L2		P0DJD1	OTTHUMG00000153276	ENST00000398146.3:c.15A>G	2.37:g.88125234T>C			P0C839|Q68DN6|Q6V1X0	Silent	SNP	ENST00000398146.3	37	CCDS42710.2																																																																																				0.667	RGPD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330534.2	NM_001078170		C	88125234	T	C	88125234	2	2	749	1	0	0	0	0	0	0	0	1	13292	1606	56	3		3	RGPD2	2	88125234	Silent	SNP	T	TCGA-KO-8408-01A-11D-2310-10	2463090	88125234	155074139	7	43936											
TEKT4	150483	mdanderson.org	37	2	95537622	95537622	+	Missense_Mutation	SNP	A	A	G	rs11164112	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr2:95537622A>G	ENST00000295201.4	+	1	435	c.298A>G	c.(298-300)Agc>Ggc	p.S100G	AC097374.2_ENST00000568768.1_RNA|TEKT4_ENST00000427593.2_Missense_Mutation_p.S100G	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	100			S -> G (in dbSNP:rs11164112).		cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						GGACACGCACAGCTGGAAGTC	0.687													.|||	2141	0.427516	0.5166	0.4467	5008	,	,		17318	0.4881		0.3419	False		,,,				2504	0.319															0								G	GLY/SER	2150,2232		542,1066,583	15	14	15		298	-0.6	0.3	2	dbSNP_120	15	3138,5444		576,1986,1729	no	missense	TEKT4	NM_144705.2	56	1118,3052,2312	GG,GA,AA		36.5649,49.0644,40.7899	benign	100/436	95537622	5288,7676	2191	4291	6482	SO:0001583	missense	150483			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.298A>G	2.37:g.95537622A>G	ENSP00000295201:p.Ser100Gly			Missense_Mutation	SNP	ENST00000295201.4	37	CCDS2005.1	891	0.40796703296703296	246	0.5	139	0.3839779005524862	261	0.4562937062937063	245	0.3232189973614776	.	0.056	-1.235674	0.01505	0.490644	0.365649	ENSG00000163060	ENST00000295201;ENST00000427593	T;T	0.02579	4.24;4.24	1.97	-0.615	0.11587	.	0.633849	0.15549	N	0.256532	T	0.00012	0.0000	N	0.01048	-1.04	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.17776	-1.0358	9	0.27082	T	0.32	-5.0599	3.6684	0.08265	0.1555:0.0:0.2897:0.5547	rs11164112	100	Q8WW24	TEKT4_HUMAN	G	100	ENSP00000295201:S100G;ENSP00000407596:S100G	ENSP00000295201:S100G	S	+	1	0	TEKT4	94901349	0.608000	0.26966	0.328000	0.25416	0.040000	0.13550	0.388000	0.20735	-0.228000	0.09869	-1.144000	0.01866	AGC		0.687	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1	NM_144705		G	95537622	A	G	95537622	3	3	749	1	0	0	0	0	1	0	0	0	15760	188	7	3	300	3	TEKT4	2	95537622	Missense_Mutation	SNP	A	TCGA-KO-8408-01A-11D-2310-10	7412388	95537622	147661751	8	43937											
ZAK	51776	broad.mit.edu	37	2	174074493	174074493	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr2:174074493G>A	ENST00000375213.3	+	10	859	c.781G>A	c.(781-783)Gag>Aag	p.E261K	MLTK_ENST00000338983.3_Missense_Mutation_p.E261K|MLK7-AS1_ENST00000419609.1_RNA|MLTK_ENST00000539448.1_Missense_Mutation_p.E261K|MLTK_ENST00000409176.2_Missense_Mutation_p.E261K|MLK7-AS1_ENST00000422703.1_RNA|MLK7-AS1_ENST00000423106.2_RNA|MLTK_ENST00000431503.2_Missense_Mutation_p.E160K	NM_016653.2	NP_057737.2	Q9NYL2	MLTK_HUMAN		261	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)										TTCAATCCTGGAGTCCATGTC	0.453																																																0													113	102	106					2																	174074493		2203	4300	6503	SO:0001583	missense	0																														ENST00000375213.3:c.781G>A	2.37:g.174074493G>A	ENSP00000364361:p.Glu261Lys		B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9	Missense_Mutation	SNP	ENST00000375213.3	37	CCDS42777.1	.	.	.	.	.	.	.	.	.	.	G	35	5.439907	0.96168	.	.	ENSG00000091436	ENST00000539448;ENST00000409176;ENST00000338983;ENST00000431503;ENST00000375213	T;T;T;T;T	0.80566	-0.94;-0.99;-0.94;-1.39;-0.99	5.97	5.97	0.96955	Protein kinase, catalytic domain (1);	0.043215	0.85682	D	0.000000	T	0.80232	0.4585	L	0.31926	0.97	0.80722	D	1	P;P;P;P;P	0.49559	0.877;0.925;0.9;0.877;0.787	B;P;B;B;B	0.49597	0.411;0.616;0.425;0.411;0.359	T	0.76561	-0.2914	10	0.29301	T	0.29	.	20.4135	0.99023	0.0:0.0:1.0:0.0	.	261;261;261;261;261	A8K710;Q9NYL2-2;Q9NYL2;D4Q8H0;Q9NYL2-3	.;.;MLTK_HUMAN;.;.	K	261;261;261;160;261	ENSP00000439414:E261K;ENSP00000387259:E261K;ENSP00000340257:E261K;ENSP00000399787:E160K;ENSP00000364361:E261K	ENSP00000340257:E261K	E	+	1	0	AC013461.1	173782739	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.827000	0.86722	2.835000	0.97688	0.591000	0.81541	GAG		0.453	MLTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255401.1			A	174074493	G	A	174074493	3	1	749	1	0	0	0	0	1	0	0	0	17517	1175	41	2	815	2	ZAK	2	174074493	Missense_Mutation	SNP	G	TCGA-KO-8408-01A-11D-2310-10	78536871	174074493	69124880	9	43938											
ALS2CL	259173	broad.mit.edu	37	3	46728540	46728541	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr3:46728540_46728541insG	ENST00000318962.4	-	5	549_550	c.466_467insC	c.(466-468)cagfs	p.Q156fs	ALS2CL_ENST00000415953.1_Frame_Shift_Ins_p.Q156fs	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	156					endosome organization (GO:0007032)|protein localization (GO:0008104)	cytoplasmic membrane-bounded vesicle (GO:0016023)	GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		GGCGAGTGGCTGGTGGAGGGCC	0.678																																																0																																										SO:0001589	frameshift_variant	259173			AK074118	CCDS2743.1, CCDS43080.1	3p21.31	2008-01-30			ENSG00000178038	ENSG00000178038			20605	protein-coding gene	gene with protein product		612402				15388334, 8889548, 17239822	Standard	NM_147129		Approved	FLJ36525, RN49018, DKFZp686I0110	uc003cqb.2	Q60I27	OTTHUMG00000128673	ENST00000318962.4:c.467dupC	3.37:g.46728542_46728542dupG	ENSP00000313670:p.Gln156fs		Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7	Frame_Shift_Ins	INS	ENST00000318962.4	37	CCDS2743.1																																																																																				0.678	ALS2CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250567.3	NM_147129		G	46728541	-	G	46728540	7	5	749	1	0	1	1	0	0	0	0	0	551	1580	55	0	2482	0	ALS2CL	3	46728540	Frame_Shift_Ins	INS	-	TCGA-KO-8408-01A-11D-2310-10		46728540	151293890	10	43939											
CELSR3	1951	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	3	48694702	48694702	+	Silent	SNP	G	G	A			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr3:48694702G>A	ENST00000164024.4	-	2	4108	c.3828C>T	c.(3826-3828)acC>acT	p.T1276T	CELSR3_ENST00000544264.1_Silent_p.T1276T	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1276					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)		CAAGGCGCACGGTCAGGCTGT	0.682																																																0													34	30	31					3																	48694702		2201	4299	6500	SO:0001819	synonymous_variant	1951			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3230	protein-coding gene	gene with protein product	"flamingo homolog 1 (Drosophila)"	604264	"cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.3828C>T	3.37:g.48694702G>A			O75092	Silent	SNP	ENST00000164024.4	37	CCDS2775.1																																																																																				0.682	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		A	48694702	G	A	48694702	2	1	749	1	0	0	0	0	0	0	0	1	3225	1103	39	1		1	CELSR3	3	48694702	Silent	SNP	G	TCGA-KO-8408-01A-11D-2310-10	1966162	48694702	149327728	11	43940											
WDR6	11180	broad.mit.edu	37	3	49049218	49049218	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr3:49049218delT	ENST00000608424.1	+	2	290	c.251delT	c.(250-252)gtgfs	p.V84fs	WDR6_ENST00000395474.3_Frame_Shift_Del_p.V114fs|WDR6_ENST00000448293.1_Frame_Shift_Del_p.V33fs|WDR6_ENST00000415265.2_Intron|WDR6_ENST00000489684.1_Intron			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	84					cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		GAGGCCATGGTGGCTGTGTTT	0.552																																																0													165	166	166					3																	49049218		2203	4300	6503	SO:0001589	frameshift_variant	11180			AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"WD repeat domain containing"	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.251delT	3.37:g.49049218delT	ENSP00000477389:p.Val84fs		B4DHK2|Q3MIT1|Q9UF63	Frame_Shift_Del	DEL	ENST00000608424.1	37																																																																																					0.552	WDR6-024	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471652.1			-	49049218	T	-	49049218	7	5	749	1	0	1	0	1	0	0	0	0	17315	1696	59	0	347	0	WDR6	3	49049218	Frame_Shift_Del	DEL	T	TCGA-KO-8408-01A-11D-2310-10	354516	49049218	148973212	12	43941											
CBLB	868	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	3	105464866	105464866	+	Missense_Mutation	SNP	A	A	C			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr3:105464866A>C	ENST00000264122.4	-	6	1061	c.740T>G	c.(739-741)tTg>tGg	p.L247W	CBLB_ENST00000545639.1_3'UTR|CBLB_ENST00000403724.1_Missense_Mutation_p.L247W|CBLB_ENST00000405772.1_Missense_Mutation_p.L247W|CBLB_ENST00000394027.3_Missense_Mutation_p.L269W	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	247	Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.|SH2-like.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						CCAATTCCGCAAAATAGAGCC	0.323			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)		Rec	yes		3	3q13.11	868	Cas-Br-M (murine) ecotropic retroviral transforming sequence b		L	0													76	81	79					3																	105464866		2203	4300	6503	SO:0001583	missense	868			U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"RING-type (C3HC4) zinc fingers"	1542	protein-coding gene	gene with protein product		604491	"Cas-Br-M (murine) ectropic retroviral transforming sequence b", "Cas-Br-M (murine) ecotropic retroviral transforming sequence b"			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.740T>G	3.37:g.105464866A>C	ENSP00000264122:p.Leu247Trp		A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Missense_Mutation	SNP	ENST00000264122.4	37	CCDS2948.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.524949	0.85600	.	.	ENSG00000114423	ENST00000264122;ENST00000394027;ENST00000403724;ENST00000405772	D;D;D;D	0.92249	-2.9;-2.91;-2.98;-3.0	5.89	5.89	0.94794	Adaptor protein Cbl, PTB domain (1);EF-hand-like domain (1);Adaptor protein Cbl, EF hand-like (1);	0.146062	0.45361	D	0.000364	D	0.96540	0.8871	M	0.86805	2.84	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	0.97148	0.9829	10	0.87932	D	0	-10.2901	16.2912	0.82752	1.0:0.0:0.0:0.0	.	269;247;247	E7ENW2;Q13191-3;Q13191	.;.;CBLB_HUMAN	W	247;269;247;247	ENSP00000264122:L247W;ENSP00000377595:L269W;ENSP00000384816:L247W;ENSP00000384938:L247W	ENSP00000264122:L247W	L	-	2	0	CBLB	106947556	1.000000	0.71417	0.991000	0.47740	0.948000	0.59901	9.326000	0.96389	2.251000	0.74343	0.482000	0.46254	TTG		0.323	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319417.2	NM_170662		C	105464866	A	C	105464866	3	2	749	1	0	0	0	0	1	0	0	0	2703	131	5	5	2264	5	CBLB	3	105464866	Missense_Mutation	SNP	A	TCGA-KO-8408-01A-11D-2310-10	56415648	105464866	92557564	13	43942											
KIAA2018	205717	broad.mit.edu	37	3	113378994	113378995	+	Frame_Shift_Ins	INS	-	-	G	rs377114570		TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr3:113378994_113378995insG	ENST00000478658.1	-	5	1551_1552	c.1534_1535insC	c.(1534-1536)cagfs	p.Q512fs	KIAA2018_ENST00000316407.4_Frame_Shift_Ins_p.Q512fs|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	512						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						AACTTGTGGCTGGGCAATTAGT	0.441																																																0																																										SO:0001589	frameshift_variant	205717			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.1535dupC	3.37:g.113378997_113378997dupG	ENSP00000420721:p.Gln512fs		Q7Z3L9|Q8IVF3|Q9H8T4	Frame_Shift_Ins	INS	ENST00000478658.1	37	CCDS43133.1																																																																																				0.441	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		G	113378995	-	G	113378994	7	5	749	1	0	1	1	0	0	0	0	0	8270	1580	55	0	5206	0	KIAA2018	3	113378994	Frame_Shift_Ins	INS	-	TCGA-KO-8408-01A-11D-2310-10	7914128	113378994	84643436	14	43943											
SEC22A	26984	broad.mit.edu	37	3	122990419	122990419	+	Missense_Mutation	SNP	G	G	T	rs190644797		TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr3:122990419G>T	ENST00000309934.4	+	6	1670	c.774G>T	c.(772-774)ttG>ttT	p.L258F	SEC22A_ENST00000492595.1_Missense_Mutation_p.L258F|SEC22A_ENST00000481965.2_Nonstop_Mutation_p.*100L	NM_012430.4	NP_036562.2	Q96IW7	SC22A_HUMAN	SEC22 vesicle trafficking protein homolog A (S. cerevisiae)	258					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)		AATCTTTTTTGACTTTTGGCT	0.378																																																0													90	94	93					3																	122990419		2203	4300	6503	SO:0001583	missense	26984			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	ENST00000309934.4:c.774G>T	3.37:g.122990419G>T	ENSP00000310521:p.Leu258Phe		B2RE26|Q9Y682	Missense_Mutation	SNP	ENST00000309934.4	37	CCDS3021.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.8|25.8	4.674964|4.674964	0.88445|0.88445	.|.	.|.	ENSG00000121542|ENSG00000121542	ENST00000492595;ENST00000473494;ENST00000309934|ENST00000481965	T;T;T|.	0.20200|.	2.09;2.1;2.09|.	5.76|5.76	5.76|5.76	0.90799|0.90799	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.78298|.	0.4261|.	M|M	0.76574|0.76574	2.34|2.34	0.80722|0.80722	D|D	1|1	D|.	0.71674|.	0.998|.	D|.	0.78314|.	0.991|.	T|.	0.76000|.	-0.3119|.	10|.	0.62326|.	D|.	0.03|.	0.7297|0.7297	20.3431|20.3431	0.98773|0.98773	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	258|.	Q96IW7|.	SC22A_HUMAN|.	F|L	258|100	ENSP00000417972:L258F;ENSP00000420343:L258F;ENSP00000310521:L258F|.	ENSP00000310521:L258F|.	L|X	+|+	3|2	2|2	SEC22A|SEC22A	124473109|124473109	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.605000|7.605000	0.82844|0.82844	2.880000|2.880000	0.98712|0.98712	0.650000|0.650000	0.86243|0.86243	TTG|TGA		0.378	SEC22A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355770.2	NM_012430		T	122990419	G	T	122990419	3	4	749	1	0	0	0	0	1	0	0	0	13994	1281	45	4	796	4	SEC22A	3	122990419	Missense_Mutation	SNP	G	TCGA-KO-8408-01A-11D-2310-10	9611425	122990419	75032011	15	43944											
C3orf58	205428	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	3	143704589	143704589	+	Missense_Mutation	SNP	G	G	T			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr3:143704589G>T	ENST00000315691.3	+	2	1397	c.862G>T	c.(862-864)Gtc>Ttc	p.V288F	C3orf58_ENST00000493396.1_Intron|C3orf58_ENST00000441925.2_Missense_Mutation_p.V50F|C3orf58_ENST00000495414.1_Missense_Mutation_p.V79F	NM_173552.3	NP_775823.1	Q8NDZ4	DIA1_HUMAN	chromosome 3 open reading frame 58	288					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						CCTCCTGGACGTCAGCTTTGA	0.408																																																0													165	149	155					3																	143704589		2203	4300	6503	SO:0001583	missense	205428			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.862G>T	3.37:g.143704589G>T	ENSP00000320081:p.Val288Phe		B2RCF2|B7Z1W3	Missense_Mutation	SNP	ENST00000315691.3	37	CCDS3130.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.104468	0.77096	.	.	ENSG00000181744	ENST00000315691;ENST00000495414;ENST00000492452;ENST00000441925	T	0.37058	1.22	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.57460	0.2055	L	0.54323	1.7	0.80722	D	1	P;D	0.71674	0.916;0.998	P;D	0.77004	0.535;0.989	T	0.60616	-0.7228	10	0.87932	D	0	.	18.5536	0.91075	0.0:0.0:1.0:0.0	.	79;288	B7Z1W3;Q8NDZ4	.;CC058_HUMAN	F	288;79;94;50	ENSP00000320081:V288F	ENSP00000320081:V288F	V	+	1	0	C3orf58	145187279	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.392000	0.81423	0.563000	0.77884	GTC		0.408	C3orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355038.1	NM_173552		T	143704589	G	T	143704589	3	4	749	1	0	0	0	0	1	0	0	0	2238	1145	40	4	902	4	C3orf58	3	143704589	Missense_Mutation	SNP	G	TCGA-KO-8408-01A-11D-2310-10	20714170	143704589	54317841	16	43945											
GFM1	85476	broad.mit.edu	37	3	158362472	158362473	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr3:158362472_158362473insC	ENST00000486715.1	+	1	406_407	c.49_50insC	c.(49-51)gccfs	p.A17fs	GFM1_ENST00000478576.1_Frame_Shift_Ins_p.A17fs|GFM1_ENST00000264263.5_Frame_Shift_Ins_p.A17fs	NM_024996.5	NP_079272.4			G elongation factor, mitochondrial 1											breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			GCGCGGAAGGGCCCCCGCCTCC	0.649											OREG0015898	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0																																										SO:0001589	frameshift_variant	85476			AF309777	CCDS33885.1	3q25	2008-02-05			ENSG00000168827	ENSG00000168827			13780	protein-coding gene	gene with protein product		606639	"G translation elongation factor, mitochondrial"			11374907, 11735030	Standard	NM_024996		Approved	EFGM, GFM, EGF1	uc003fce.3	Q96RP9	OTTHUMG00000158804	ENST00000486715.1:c.54dupC	3.37:g.158362477_158362477dupC	ENSP00000419038:p.Ala17fs	1793		Frame_Shift_Ins	INS	ENST00000486715.1	37	CCDS33885.1																																																																																				0.649	GFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352271.1	NM_024996		C	158362473	-	C	158362472	7	5	749	1	0	1	1	0	0	0	0	0	6343	1203	42	0	51	0	GFM1	3	158362472	Frame_Shift_Ins	INS	-	TCGA-KO-8408-01A-11D-2310-10	14657883	158362472	39659958	17	43946											
CRIPAK	285464	mdanderson.org	37	4	1389148	1389148	+	Silent	SNP	T	T	C	rs35123539|rs79888804	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr4:1389148T>C	ENST00000324803.4	+	1	3809	c.849T>C	c.(847-849)caT>caC	p.H283H		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	283					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)			CCTGCTCACATGTGCCGATGT	0.682													c|||	53	0.0105831	0.0113	0.0086	5008	,	,		13167	0.006		0.0159	False		,,,				2504	0.0102															0								C		48,4356		1,46,2155	141	138	139		849	-0.2	0	4	dbSNP_131	139	185,8415		4,177,4119	no	coding-synonymous	CRIPAK	NM_175918.3		5,223,6274	CC,CT,TT		2.1512,1.0899,1.7918		283/447	1389148	233,12771	2202	4300	6502	SO:0001819	synonymous_variant	285464			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.849T>C	4.37:g.1389148T>C			Q8NB03	Silent	SNP	ENST00000324803.4	37	CCDS3349.1																																																																																				0.682	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		C	1389148	T	C	1389148	2	2	749	1	0	0	0	0	0	0	0	1	3879	1461	51	3		3	CRIPAK	4	1389148	Silent	SNP	T	TCGA-KO-8408-01A-11D-2310-10		1389148	189765128	18	43947											
FBXL5	26234	broad.mit.edu	37	4	15627587	15627587	+	Missense_Mutation	SNP	C	C	A			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr4:15627587C>A	ENST00000341285.3	-	9	1262	c.1138G>T	c.(1138-1140)Ggt>Tgt	p.G380C	FBXL5_ENST00000412094.2_Missense_Mutation_p.G363C|FBXL5_ENST00000382358.4_Missense_Mutation_p.G254C	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	380					iron ion homeostasis (GO:0055072)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	iron ion binding (GO:0005506)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						TGGCAGCAACCAAGCCAAGAC	0.373																																																0													23	24	23					4																	15627587		2194	4275	6469	SO:0001583	missense	26234			AF174591	CCDS3415.1, CCDS54745.1	4p15.33	2011-06-09			ENSG00000118564	ENSG00000118564		"F-boxes / Leucine-rich repeats"	13602	protein-coding gene	gene with protein product		605655				10531035	Standard	NM_012161		Approved	FBL4, FBL5, FLR1	uc003goc.2	Q9UKA1	OTTHUMG00000097097	ENST00000341285.3:c.1138G>T	4.37:g.15627587C>A	ENSP00000344866:p.Gly380Cys		A8MSK4|B4DIB5|Q4W5A8|Q8NHP3|Q9NXN2|Q9P0I0|Q9P0X5|Q9UJT7|Q9UKC8	Missense_Mutation	SNP	ENST00000341285.3	37	CCDS3415.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.0|24.0	4.484659|4.484659	0.84854|0.84854	.|.	.|.	ENSG00000118564|ENSG00000118564	ENST00000341285;ENST00000412094;ENST00000382358|ENST00000513163	T;T;T|.	0.35421|.	1.34;1.34;1.31|.	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74816|0.74816	0.3766|0.3766	M|M	0.62723|0.62723	1.935|1.935	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|T	0.70691|0.70691	-0.4802|-0.4802	10|5	0.87932|.	D|.	0|.	-19.976|-19.976	20.3116|20.3116	0.98642|0.98642	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	363;380|.	Q9UKA1-2;Q9UKA1|.	.;FBXL5_HUMAN|.	C|L	380;363;254|300	ENSP00000344866:G380C;ENSP00000408679:G363C;ENSP00000371795:G254C|.	ENSP00000344866:G380C|.	G|W	-|-	1|2	0|0	FBXL5|FBXL5	15236685|15236685	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.103000|7.103000	0.77014|0.77014	2.793000|2.793000	0.96121|0.96121	0.650000|0.650000	0.86243|0.86243	GGT|TGG		0.373	FBXL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214235.2			A	15627587	C	A	15627587	3	1	749	1	0	0	0	0	1	0	0	0	5724	594	21	4	949	4	FBXL5	4	15627587	Missense_Mutation	SNP	C	TCGA-KO-8408-01A-11D-2310-10	14238439	15627587	175526689	19	43948											
FRAS1	80144	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	4	79301068	79301068	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr4:79301068C>T	ENST00000325942.6	+	27	3921	c.3481C>T	c.(3481-3483)Cag>Tag	p.Q1161*	FRAS1_ENST00000264895.6_Nonsense_Mutation_p.Q1161*	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1161					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						AAAAGAGGTTCAGCTGGACAA	0.473																																																0													99	102	101					4																	79301068		1926	4122	6048	SO:0001587	stop_gained	80144			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.3481C>T	4.37:g.79301068C>T	ENSP00000326330:p.Gln1161*		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Nonsense_Mutation	SNP	ENST00000325942.6	37	CCDS54772.1	.	.	.	.	.	.	.	.	.	.	C	43	9.941586	0.99300	.	.	ENSG00000138759	ENST00000325942;ENST00000264895	.	.	.	5.53	5.53	0.82687	.	0.466636	0.22014	N	0.065839	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.4531	0.94876	0.0:1.0:0.0:0.0	.	.	.	.	X	1161	.	ENSP00000264895:Q1161X	Q	+	1	0	FRAS1	79520092	0.952000	0.32445	0.958000	0.39756	0.124000	0.20399	4.549000	0.60726	2.600000	0.87896	0.591000	0.81541	CAG		0.473	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			T	79301068	C	T	79301068	4	4	749	1	0	0	0	0	0	1	0	0	6044	827	29	2	3587	2	FRAS1	4	79301068	Nonsense_Mutation	SNP	C	TCGA-KO-8408-01A-11D-2310-10	63673481	79301068	111853208	20	43949											
AGPAT9	84803	broad.mit.edu;mdanderson.org	37	4	84465716	84465716	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr4:84465716A>G	ENST00000395226.2	+	3	387	c.169A>G	c.(169-171)Acc>Gcc	p.T57A	AGPAT9_ENST00000264409.4_Missense_Mutation_p.T57A	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	57					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)				TGAAAAAGGAACCCCAAAGGA	0.343																																																0													196	211	206					4																	84465716		2203	4300	6503	SO:0001583	missense	84803			AK055749	CCDS3606.1	4q21.23	2014-02-13	2008-01-29		ENSG00000138678	ENSG00000138678	2.3.1.15	"1-acylglycerol-3-phosphate O-acyltransferases"	28157	protein-coding gene	gene with protein product	"lysophosphatidic acid acyltransferase, theta"	610958	"1-acylglycerol-3-phosphate O-acyltransferase 9 (lysophosphatidic acid acyltransferase, theta)"			12975309	Standard	NM_001256421		Approved	MGC11324, LPAAT-theta, MAG1, HMFN0839	uc003how.4	Q53EU6	OTTHUMG00000130431	ENST00000395226.2:c.169A>G	4.37:g.84465716A>G	ENSP00000378651:p.Thr57Ala		Q68CJ4|Q6GPI6|Q96NA3	Missense_Mutation	SNP	ENST00000395226.2	37	CCDS3606.1	.	.	.	.	.	.	.	.	.	.	A	1.229	-0.624612	0.03636	.	.	ENSG00000138678	ENST00000395226;ENST00000264409	T;T	0.39787	1.06;1.06	5.13	0.858	0.19030	.	0.696409	0.14235	N	0.332468	T	0.09730	0.0239	N	0.00554	-1.385	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33137	-0.9880	10	0.09338	T	0.73	-1.4317	3.6614	0.08240	0.287:0.0:0.5317:0.1814	.	57	Q53EU6	GPAT3_HUMAN	A	57	ENSP00000378651:T57A;ENSP00000264409:T57A	ENSP00000264409:T57A	T	+	1	0	AGPAT9	84684740	0.784000	0.28713	0.366000	0.25914	0.925000	0.55904	0.849000	0.27723	0.320000	0.23234	-0.358000	0.07595	ACC		0.343	AGPAT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252821.3	NM_032717		G	84465716	A	G	84465716	3	3	749	1	0	0	0	0	1	0	0	0	392	43	2	3	175	3	AGPAT9	4	84465716	Missense_Mutation	SNP	A	TCGA-KO-8408-01A-11D-2310-10	5164648	84465716	106688560	21	43950											
DSPP	1834	mdanderson.org	37	4	88536953	88536953	+	Missense_Mutation	SNP	G	G	A	rs200486992		TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr4:88536953G>A	ENST00000282478.7	+	4	3172	c.3139G>A	c.(3139-3141)Gat>Aat	p.D1047N	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Missense_Mutation_p.D1047N			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1047	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		tgacagcagcgatagcagtga	0.527																																																0													46	57	53					4																	88536953		1537	2773	4310	SO:0001583	missense	1834			AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3139G>A	4.37:g.88536953G>A	ENSP00000282478:p.Asp1047Asn		A8MUI0|O95815	Missense_Mutation	SNP	ENST00000282478.7	37	CCDS43248.1	.	.	.	.	.	.	.	.	.	.	g	3.566	-0.088574	0.07097	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.88201	-2.35;-2.35	1.51	-1.84	0.07809	.	.	.	.	.	T	0.78355	0.4270	L	0.34521	1.04	0.09310	N	1	B	0.26708	0.157	B	0.08055	0.003	T	0.61637	-0.7022	9	0.38643	T	0.18	.	5.2365	0.15448	0.5606:0.0:0.4394:0.0	.	1047	Q9NZW4	DSPP_HUMAN	N	1047	ENSP00000382213:D1047N;ENSP00000282478:D1047N	ENSP00000282478:D1047N	D	+	1	0	DSPP	88755977	0.032000	0.19561	0.079000	0.20413	0.006000	0.05464	0.451000	0.21779	-0.607000	0.05738	-0.791000	0.03333	GAT		0.527	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		A	88536953	G	A	88536953	3	1	749	1	0	0	0	0	1	0	0	0	4784	1058	37	1	3153	1	DSPP	4	88536953	Missense_Mutation	SNP	G	TCGA-KO-8408-01A-11D-2310-10	4071237	88536953	102617323	22	43951											
QRFPR	84109	bcgsc.ca	37	4	122250742	122250742	+	Missense_Mutation	SNP	T	T	A			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr4:122250742T>A	ENST00000394427.2	-	6	1434	c.1023A>T	c.(1021-1023)aaA>aaT	p.K341N	Y_RNA_ENST00000384419.1_RNA|QRFPR_ENST00000334383.5_3'UTR	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	341					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						ACAAAACATTTTTTTTGAAGT	0.333																																																0													67	67	67					4																	122250742		2202	4300	6502	SO:0001583	missense	84109			AF411117	CCDS3719.1	4q27	2012-08-10	2008-12-18	2008-12-18	ENSG00000186867	ENSG00000186867		"GPCR / Class A : RF amide peptide receptors"	15565	protein-coding gene	gene with protein product		606925	"G protein-coupled receptor 103"	GPR103		11574155	Standard	NM_198179		Approved		uc010inj.1	Q96P65	OTTHUMG00000133036	ENST00000394427.2:c.1023A>T	4.37:g.122250742T>A	ENSP00000377948:p.Lys341Asn			Missense_Mutation	SNP	ENST00000394427.2	37	CCDS3719.1	.	.	.	.	.	.	.	.	.	.	T	18.61	3.661452	0.67700	.	.	ENSG00000186867	ENST00000394427	T	0.38240	1.15	5.32	-3.01	0.05463	.	0.000000	0.85682	D	0.000000	T	0.32882	0.0844	L	0.36672	1.1	0.80722	D	1	D	0.53312	0.959	P	0.49887	0.625	T	0.09707	-1.0662	10	0.54805	T	0.06	.	13.2562	0.60081	0.0:0.3128:0.0:0.6872	.	341	Q96P65	QRFPR_HUMAN	N	341	ENSP00000377948:K341N	ENSP00000377948:K341N	K	-	3	2	QRFPR	122470192	0.968000	0.33430	0.756000	0.31282	0.994000	0.84299	0.120000	0.15647	-0.820000	0.04318	0.402000	0.26972	AAA		0.333	QRFPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256641.2	NM_198179		A	122250742	T	A	122250742	3	1	749	1	0	0	0	0	1	0	0	0	12884	1838	64	5	276	5	QRFPR	4	122250742	Missense_Mutation	SNP	T	TCGA-KO-8408-01A-11D-2310-10	33713789	122250742	68903534	23	43952											
FRG1	2483	mdanderson.org	37	4	190876210	190876210	+	Silent	SNP	C	C	G			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr4:190876210C>G	ENST00000226798.4	+	5	558	c.336C>G	c.(334-336)ggC>ggG	p.G112G	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	112					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)		TGAAGTCTGGCTATGGAAAAT	0.358																																																0													54	53	53					4																	190876210		2203	4300	6503	SO:0001819	synonymous_variant	2483			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.336C>G	4.37:g.190876210C>G			A8K775	Silent	SNP	ENST00000226798.4	37	CCDS34121.1																																																																																				0.358	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		G	190876210	C	G	190876210	2	3	749	1	0	0	0	0	0	0	0	1	6048	784	28	4		4	FRG1	4	190876210	Silent	SNP	C	TCGA-KO-8408-01A-11D-2310-10	68625468	190876210	278066	24	43953											
RAD17	5884	broad.mit.edu	37	5	68695895	68695895	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr5:68695895C>T	ENST00000509734.1	+	16	2303	c.1625C>T	c.(1624-1626)gCa>gTa	p.A542V	RAD17_ENST00000345306.6_Missense_Mutation_p.A531V|RAD17_ENST00000521422.1_Missense_Mutation_p.A366V|RAD17_ENST00000358030.2_Missense_Mutation_p.A366V|RAD17_ENST00000380774.3_Missense_Mutation_p.A542V|RAD17_ENST00000354868.5_Missense_Mutation_p.A531V|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000282891.6_Missense_Mutation_p.A445V|RAD17_ENST00000305138.4_Missense_Mutation_p.A531V|RAD17_ENST00000354312.3_Missense_Mutation_p.A531V|RAD17_ENST00000361732.2_Missense_Mutation_p.A531V			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	542	Interaction with MCM7.				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)		AATTGCCTGGCAGCAAAAGCA	0.338								Other conserved DNA damage response genes																																								0													57	50	52					5																	68695895		2203	4300	6503	SO:0001583	missense	5884			AF085736	CCDS4003.1, CCDS4004.1, CCDS4005.1, CCDS47226.1	5q13	2010-09-24	2001-11-28		ENSG00000152942	ENSG00000152942			9807	protein-coding gene	gene with protein product		603139	"RAD1 (S. pombe) homolog"			9869296, 9660800	Standard	NM_133343		Approved	Rad24, RAD17Sp, CCYC	uc003jwo.3	O75943	OTTHUMG00000099357	ENST00000509734.1:c.1625C>T	5.37:g.68695895C>T	ENSP00000426191:p.Ala542Val		A8K8X2|D3DWA5|O75714|Q7Z3S4|Q9UNK7|Q9UNR7|Q9UNR8|Q9UPF5	Missense_Mutation	SNP	ENST00000509734.1	37	CCDS4003.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.769929	0.49680	.	.	ENSG00000152942	ENST00000361732;ENST00000509734;ENST00000354868;ENST00000521422;ENST00000354312;ENST00000345306;ENST00000305138;ENST00000282891;ENST00000358030;ENST00000380774;ENST00000513214	T;T;T;T;T;T;T;T;T;T;T	0.26810	1.71;1.71;1.71;1.71;1.71;1.71;1.71;1.71;1.71;1.71;1.71	5.63	5.63	0.86233	.	0.272817	0.41500	D	0.000873	T	0.25382	0.0617	L	0.55103	1.725	0.48341	D	0.999634	P;B;P	0.35872	0.525;0.128;0.469	B;B;B	0.35727	0.209;0.063;0.132	T	0.02167	-1.1202	10	0.27082	T	0.32	-7.0607	12.6173	0.56584	0.0:0.9201:0.0:0.0799	.	542;445;531	O75943;O75943-4;O75943-2	RAD17_HUMAN;.;.	V	531;542;531;366;531;531;531;445;366;542;150	ENSP00000355226:A531V;ENSP00000426191:A542V;ENSP00000346938:A531V;ENSP00000427743:A366V;ENSP00000346271:A531V;ENSP00000311227:A531V;ENSP00000303134:A531V;ENSP00000282891:A445V;ENSP00000350725:A366V;ENSP00000370151:A542V;ENSP00000425005:A150V	ENSP00000282891:A445V	A	+	2	0	RAD17	68731651	1.000000	0.71417	1.000000	0.80357	0.633000	0.38033	5.412000	0.66392	2.673000	0.90976	0.580000	0.79431	GCA		0.338	RAD17-008	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369171.1	NM_133344		T	68695895	C	T	68695895	3	4	749	1	0	0	0	0	1	0	0	0	12985	710	25	2	1692	2	RAD17	5	68695895	Missense_Mutation	SNP	C	TCGA-KO-8408-01A-11D-2310-10		68695895	112219365	25	43954											
SPZ1	84654	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	5	79616249	79616249	+	Missense_Mutation	SNP	T	T	G			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr5:79616249T>G	ENST00000296739.4	+	1	460	c.215T>G	c.(214-216)cTc>cGc	p.L72R		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	72					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		TTTAACAATCTCTTAAAAGAA	0.368																																																0													65	62	63					5																	79616249		1817	4077	5894	SO:0001583	missense	84654				CCDS43336.1	5q14.1	2014-06-13				ENSG00000164299			30721	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 148"					11165476, 12778315, 15226296, 15829580, 15899793	Standard	NM_032567		Approved	NYD-TSP1, FLJ25709, PPP1R148	uc003kgn.3	Q9BXG8		ENST00000296739.4:c.215T>G	5.37:g.79616249T>G	ENSP00000369611:p.Leu72Arg		B2RA21|Q8N4P1|Q8N7E9	Missense_Mutation	SNP	ENST00000296739.4	37	CCDS43336.1	.	.	.	.	.	.	.	.	.	.	T	14.33	2.504338	0.44558	.	.	ENSG00000164299	ENST00000511881;ENST00000296739	T;T	0.59638	0.25;0.77	4.33	3.17	0.36434	.	0.380247	0.18580	N	0.137078	T	0.66557	0.2801	L	0.52011	1.625	0.09310	N	1	D	0.76494	0.999	D	0.74023	0.982	T	0.55068	-0.8198	10	0.87932	D	0	-3.0115	8.3567	0.32335	0.0:0.0952:0.0:0.9048	.	72	Q9BXG8	SPZ1_HUMAN	R	72	ENSP00000426530:L72R;ENSP00000369611:L72R	ENSP00000369611:L72R	L	+	2	0	SPZ1	79652005	0.011000	0.17503	0.007000	0.13788	0.035000	0.12851	1.503000	0.35715	0.996000	0.38943	0.460000	0.39030	CTC		0.368	SPZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369322.1	NM_032567		G	79616249	T	G	79616249	3	3	749	1	0	0	0	0	1	0	0	0	15132	1551	54	5	217	5	SPZ1	5	79616249	Missense_Mutation	SNP	T	TCGA-KO-8408-01A-11D-2310-10	10920354	79616249	101299011	26	43955											
C5orf20	140947	broad.mit.edu;ucsc.edu;mdanderson.org	37	5	134782502	134782502	+	Silent	SNP	C	C	T			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr5:134782502C>T	ENST00000503143.2	-	1	536	c.297G>A	c.(295-297)tcG>tcA	p.S99S	TIFAB_ENST00000537858.1_3'UTR	NM_130848.2	NP_570900.1	Q8TF63	DCNP1_HUMAN		99						nucleus (GO:0005634)				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATGCTTCACTCGAAAGATTGG	0.592																																																0													66	70	68					5																	134782502		2203	4300	6503	SO:0001819	synonymous_variant	140947																														ENST00000503143.2:c.297G>A	5.37:g.134782502C>T				Silent	SNP	ENST00000503143.2	37	CCDS4186.1																																																																																				0.592	C5orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372531.1			T	134782502	C	T	134782502	2	4	749	1	0	0	0	0	0	0	0	1	2286	871	31	1		1	C5orf20	5	134782502	Silent	SNP	C	TCGA-KO-8408-01A-11D-2310-10	55166253	134782502	46132758	27	43956											
PCDHB16	57717	mdanderson.org	37	5	140563708	140563708	+	Missense_Mutation	SNP	G	G	A	rs17844651	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr5:140563708G>A	ENST00000361016.2	+	1	2729	c.1574G>A	c.(1573-1575)cGg>cAg	p.R525Q		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	525	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.		R -> Q (in dbSNP:rs17844651). {ECO:0000269|PubMed:11322959, ECO:0000269|PubMed:15489334}.		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)			GAGGCCCTGCGGGAGTTCGAG	0.697													A|||	1371	0.273762	0.3132	0.3329	5008	,	,		10877	0.1399		0.3688	False		,,,				2504	0.2188															0													44	45	45					5																	140563708		1753	3407	5160	SO:0001583	missense	57717			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.1574G>A	5.37:g.140563708G>A	ENSP00000354293:p.Arg525Gln		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	CCDS4251.1	949	0.43452380952380953	218	0.44308943089430897	192	0.5303867403314917	183	0.31993006993006995	356	0.46965699208443273	N	0.030	-1.338963	0.01287	.	.	ENSG00000196963	ENST00000361016	T	0.01725	4.67	4.26	-5.79	0.02354	Cadherin (5);Cadherin-like (1);	1.323070	0.06171	N	0.677600	T	0.00012	0.0000	N	0.13327	0.33	0.80722	P	0.0	B	0.06786	0.001	B	0.09377	0.004	T	0.45804	-0.9236	9	0.02654	T	1	.	16.9299	0.86188	0.33:0.0:0.67:0.0	rs61743500	525	Q9NRJ7	PCDBG_HUMAN	Q	525	ENSP00000354293:R525Q	ENSP00000354293:R525Q	R	+	2	0	PCDHB16	140543892	0.000000	0.05858	0.001000	0.08648	0.117000	0.20001	-2.446000	0.01010	-1.843000	0.01179	-1.249000	0.01516	CGG		0.697	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		A	140563708	G	A	140563708	3	1	749	1	0	0	0	0	1	0	0	0	11543	1116	39	1	1576	1	PCDHB16	5	140563708	Missense_Mutation	SNP	G	TCGA-KO-8408-01A-11D-2310-10	5781206	140563708	40351552	28	43957	440	2	1	113		5	4	10047	N	T_G_AG_A	1.780722e-05
PCDHB16	57717	mdanderson.org	37	5	140563711	140563712	+	Missense_Mutation	DNP	AG	AG	CT	rs17844652|rs17844653	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	AG	AG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr5:140563711_140563712AG>CT	ENST00000361016.2	+	1	2732_2733	c.1577_1578AG>CT	c.(1576-1578)gAG>gCT	p.E526A		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	526	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.			E -> A (in Ref. 1; AAF81914/AAG10030 and 7; AAH36062). {ECO:0000305}.	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)			GCCCTGCGGGAGTTCGAGTTCC	0.693																																																0																																										SO:0001583	missense	57717			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	Exception_encountered	5.37:g.140563711_140563712delinsCT	ENSP00000354293:p.Glu526Ala		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	DNP	ENST00000361016.2	37	CCDS4251.1																																																																																				0.693	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		CT	140563712	AG	CT	140563711	3	2	749	1	0	0	0	0	1	0	0	0	11543	304	11	5	1579	5	PCDHB16	5	140563711	Missense_Mutation	DNP	AG	TCGA-KO-8408-01A-11D-2310-10	3	140563711	40351549	29	43958	440	2	1	113		5	4	10047	N	T_G_AG_A	1.780722e-05
PCDHB16	57717	mdanderson.org	37	5	140563754	140563754	+	Silent	SNP	T	T	G	rs17844656	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr5:140563754T>G	ENST00000361016.2	+	1	2775	c.1620T>G	c.(1618-1620)gcT>gcG	p.A540A		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	540	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)			GCTCCCCGGCTTTGAGCAGCG	0.687													T|||	1362	0.271965	0.3366	0.3098	5008	,	,		11233	0.1419		0.3499	False		,,,				2504	0.2117															0								T		456,3166		100,256,1455	21	24	23		1620	2.2	0.8	5	dbSNP_123	23	664,5934		147,370,2782	no	coding-synonymous	PCDHB16	NM_020957.1		247,626,4237	GG,GT,TT		10.0637,12.5897,10.9589		540/777	140563754	1120,9100	1811	3299	5110	SO:0001819	synonymous_variant	57717			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.1620T>G	5.37:g.140563754T>G			B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Silent	SNP	ENST00000361016.2	37	CCDS4251.1																																																																																				0.687	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		G	140563754	T	G	140563754	2	3	749	1	0	0	0	0	0	0	0	1	11543	1596	56	5		5	PCDHB16	5	140563754	Silent	SNP	T	TCGA-KO-8408-01A-11D-2310-10	43	140563754	40351506	30	43959			1	113		5	4	10047	N	T_G_AG_A	1.780722e-05
PCDHB10	56126	mdanderson.org	37	5	140573719	140573719	+	Missense_Mutation	SNP	G	G	A	rs148484995	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr5:140573719G>A	ENST00000239446.4	+	1	1778	c.1594G>A	c.(1594-1596)Ggc>Agc	p.G532S		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	532	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(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)			GTTCCGCGTGGGCGCCACAGA	0.692																																																0													64	82	76					5																	140573719		2203	4300	6503	SO:0001583	missense	56126			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.1594G>A	5.37:g.140573719G>A	ENSP00000239446:p.Gly532Ser		Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	CCDS4252.1	121	0.0554029304029304	49	0.09959349593495935	14	0.03867403314917127	4	0.006993006993006993	54	0.0712401055408971	g	13.25	2.180349	0.38511	.	.	ENSG00000120324	ENST00000239446	T	0.01647	4.71	3.53	-1.46	0.08800	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.00073	0.0002	N	0.04787	-0.16	0.09310	N	1	P	0.40578	0.722	P	0.50162	0.633	T	0.53781	-0.8390	9	0.34782	T	0.22	.	6.5285	0.22314	0.1851:0.6244:0.1905:0.0	.	532	Q9UN67	PCDBA_HUMAN	S	532	ENSP00000239446:G532S	ENSP00000239446:G532S	G	+	1	0	PCDHB10	140553903	0.000000	0.05858	0.997000	0.53966	0.972000	0.66771	-1.808000	0.01732	-0.175000	0.10725	0.549000	0.68633	GGC		0.692	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		A	140573719	G	A	140573719	3	1	749	1	0	0	0	0	1	0	0	0	11537	1232	43	2	1596	2	PCDHB10	5	140573719	Missense_Mutation	SNP	G	TCGA-KO-8408-01A-11D-2310-10	9965	140573719	40341541	31	43960			1	113		5	4	10047	N	T_G_AG_A	1.780722e-05
PCDHB10	56126	mdanderson.org	37	5	140573754	140573754	+	Missense_Mutation	SNP	A	A	C	rs702386		TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr5:140573754A>C	ENST00000239446.4	+	1	1813	c.1629A>C	c.(1627-1629)agA>agC	p.R543S		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	543	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.			R -> S (in Ref. 2; AAK51616). {ECO:0000305}.	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)			CGCTGAGCAGAGAGGCGCTGG	0.701																																																0													37	53	47					5																	140573754		2191	4291	6482	SO:0001583	missense	56126			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.1629A>C	5.37:g.140573754A>C	ENSP00000239446:p.Arg543Ser		Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	CCDS4252.1	1085	0.4967948717948718	272	0.5528455284552846	171	0.4723756906077348	330	0.5769230769230769	312	0.41160949868073876	a	3.278	-0.147626	0.06627	.	.	ENSG00000120324	ENST00000239446	T	0.46063	0.88	3.53	3.53	0.40419	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.00012	0.0000	N	0.00005	-3.295	0.50467	P	1.2299999999998423E-4	B	0.02656	0.0	B	0.01281	0.0	T	0.47636	-0.9102	8	0.02654	T	1	.	7.2252	0.26012	0.1715:0.7353:0.0:0.0932	rs702386;rs17844583	543	Q9UN67	PCDBA_HUMAN	S	543	ENSP00000239446:R543S	ENSP00000239446:R543S	R	+	3	2	PCDHB10	140553938	0.001000	0.12720	1.000000	0.80357	0.970000	0.65996	0.307000	0.19296	0.852000	0.35287	-0.233000	0.12211	AGA		0.701	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		C	140573754	A	C	140573754	3	2	749	1	0	0	0	0	1	0	0	0	11537	301	11	5	1631	5	PCDHB10	5	140573754	Missense_Mutation	SNP	A	TCGA-KO-8408-01A-11D-2310-10	35	140573754	40341506	32	43961			1	113		5	4	10047	N	T_G_AG_A	1.780722e-05
ARSI	340075	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	5	149677902	149677902	+	Missense_Mutation	SNP	C	C	A			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr5:149677902C>A	ENST00000328668.7	-	2	1164	c.585G>T	c.(583-585)gaG>gaT	p.E195D		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	195					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)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CATTCTCACCCTCGTGCAGGT	0.627																																																0													56	54	55					5																	149677902		2203	4300	6503	SO:0001583	missense	340075			AY875937	CCDS34275.1	5q32	2014-03-03	2006-03-07			ENSG00000183876		"Arylsulfatase family"	32521	protein-coding gene	gene with protein product		610009	"arylsulfatase I"			16174644, 24482476	Standard	NM_001012301		Approved	FLJ16069, SPG66	uc003lrv.2	Q5FYB1		ENST00000328668.7:c.585G>T	5.37:g.149677902C>A	ENSP00000333395:p.Glu195Asp		A1L3B0|B3KV22|B7XD03	Missense_Mutation	SNP	ENST00000328668.7	37	CCDS34275.1	.	.	.	.	.	.	.	.	.	.	C	0.123	-1.123024	0.01770	.	.	ENSG00000183876	ENST00000328668;ENST00000515301;ENST00000509146	D;D;D	0.96136	-3.92;-3.92;-3.92	4.32	2.52	0.30459	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.051777	0.85682	D	0.000000	D	0.85256	0.5655	N	0.11724	0.165	0.37798	D	0.927598	B	0.12013	0.005	B	0.22880	0.042	T	0.75028	-0.3462	10	0.02654	T	1	.	4.4599	0.11661	0.1488:0.5251:0.0:0.3261	.	195	Q5FYB1	ARSI_HUMAN	D	195;52;52	ENSP00000333395:E195D;ENSP00000426879:E52D;ENSP00000420955:E52D	ENSP00000333395:E195D	E	-	3	2	ARSI	149658095	0.049000	0.20398	0.998000	0.56505	0.927000	0.56198	-0.741000	0.04855	0.567000	0.29293	0.561000	0.74099	GAG		0.627	ARSI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373681.1	NM_001012301		A	149677902	C	A	149677902	3	1	749	1	0	0	0	0	1	0	0	0	994	680	24	4	1128	4	ARSI	5	149677902	Missense_Mutation	SNP	C	TCGA-KO-8408-01A-11D-2310-10	9104148	149677902	31237358	33	43962											
HLA-A	3105	mdanderson.org	37	6	29911240	29911240	+	Nonsense_Mutation	SNP	T	T	A	rs9260156	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr6:29911240T>A	ENST00000396634.1	+	5	880	c.539T>A	c.(538-540)tTg>tAg	p.L180*	HLA-A_ENST00000376806.5_Nonsense_Mutation_p.L180*|HLA-A_ENST00000376802.2_Nonsense_Mutation_p.L180*|HLA-A_ENST00000376809.5_Nonsense_Mutation_p.L180*			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	180	Alpha-2.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.L180*(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						GCGGAGCAGTTGAGAGCCTAC	0.667									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			N|||	1145	0.228634	0.025	0.2017	5008	,	,		12147	0.4732		0.1581	False		,,,				2504	0.3436															1	Substitution - Nonsense(1)	upper_aerodigestive_tract(1)											40	29	33					6																	29911240		1509	2695	4204	SO:0001587	stop_gained	3105	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.539T>A	6.37:g.29911240T>A	ENSP00000379873:p.Leu180*		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Nonsense_Mutation	SNP	ENST00000396634.1	37	CCDS34373.1	605|605	0.27701465201465203|0.27701465201465203	57|57	0.11585365853658537|0.11585365853658537	97|97	0.26795580110497236|0.26795580110497236	282|282	0.493006993006993|0.493006993006993	169|169	0.22295514511873352|0.22295514511873352	.|.	25.5|25.5	4.639572|4.639572	0.87760|0.87760	.|.	.|.	ENSG00000206503|ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000376802|ENST00000355767	.|.	.|.	.|.	3.78|3.78	-7.56|-7.56	0.01322|0.01322	.|.	4.873430|.	0.01566|.	U|.	0.020372|.	.|.	.|.	.|.	.|.	.|.	.|.	0.09310|0.09310	P|P	0.999999999738598|0.999999999738598	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	6.7832|6.7832	0.23659|0.23659	0.5534:0.0:0.1127:0.3339|0.5534:0.0:0.1127:0.3339	rs9260156;rs11539955;rs16896023;rs41555815|rs9260156;rs11539955;rs16896023;rs41555815	.|.	.|.	.|.	X|R	180|155	.|.	.|.	L|X	+|+	2|1	0|0	HLA-A|HLA-A	30019219|30019219	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-12.720000|-12.720000	0.00001|0.00001	-3.712000|-3.712000	0.00117|0.00117	-2.599000|-2.599000	0.00162|0.00162	TTG|TGA		0.667	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		A	29911240	T	A	29911240	4	1	749	1	0	0	0	0	0	1	0	0	7197	1821	63	5	549	5	HLA-A	6	29911240	Nonsense_Mutation	SNP	T	TCGA-KO-8408-01A-11D-2310-10		29911240	141203827	34	43963											
HLA-B	3106	mdanderson.org	37	6	31324208	31324208	+	Missense_Mutation	SNP	G	G	T	rs12721829	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr6:31324208G>T	ENST00000412585.2	-	3	383	c.355C>A	c.(355-357)Ctc>Atc	p.L119I		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	119	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						ATGCTCTGGAGGGTGTGAGAC	0.687									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																																							0													13	12	13					6																	31324208		1847	3958	5805	SO:0001583	missense	3106	Familial Cancer Database	;Lichen Sclerosis, Familial	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4932	protein-coding gene	gene with protein product		142830	"ankylosing spondylitis"	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.355C>A	6.37:g.31324208G>T	ENSP00000399168:p.Leu119Ile		Q29764	Missense_Mutation	SNP	ENST00000412585.2	37	CCDS34394.1	552	0.25274725274725274	118	0.23983739837398374	91	0.2513812154696133	125	0.21853146853146854	218	0.287598944591029	N	2.641	-0.284193	0.05605	.	.	ENSG00000234745	ENST00000412585;ENST00000434333	T;T	0.00892	5.57;5.57	3.18	-6.36	0.01969	MHC class I, alpha chain, alpha1/alpha2 (4);MHC classes I/II-like antigen recognition protein (2);MHC class I-like antigen recognition (2);	1978.090000	0.00496	N	0.000156	T	0.00039	0.0001	N	0.00251	-1.775	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.17433	0.014;0.018	T	0.48990	-0.8985	9	0.02654	T	1	.	0.6914	0.00892	0.2255:0.1723:0.3005:0.3017	rs12721829;rs17362043;rs17413629	119;119	P30480;P01889	1B42_HUMAN;1B07_HUMAN	I	119;130	ENSP00000399168:L119I;ENSP00000405931:L130I	ENSP00000399168:L119I	L	-	1	0	HLA-B	31432187	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-11.162000	0.00004	-4.716000	0.00035	-2.639000	0.00152	CTC		0.687	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514		T	31324208	G	T	31324208	3	4	749	1	0	0	0	0	1	0	0	0	7198	1000	35	4	753	4	HLA-B	6	31324208	Missense_Mutation	SNP	G	TCGA-KO-8408-01A-11D-2310-10	1412968	31324208	139790859	35	43964	441	2									
HLA-B	3106	mdanderson.org	37	6	31324210	31324210	+	Missense_Mutation	SNP	G	G	A	rs12721827	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr6:31324210G>A	ENST00000412585.2	-	3	381	c.353C>T	c.(352-354)aCc>aTc	p.T118I		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	118	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						GCTCTGGAGGGTGTGAGACCC	0.687									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																																							0													13	12	12					6																	31324210		1874	3989	5863	SO:0001583	missense	3106	Familial Cancer Database	;Lichen Sclerosis, Familial	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4932	protein-coding gene	gene with protein product		142830	"ankylosing spondylitis"	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.353C>T	6.37:g.31324210G>A	ENSP00000399168:p.Thr118Ile		Q29764	Missense_Mutation	SNP	ENST00000412585.2	37	CCDS34394.1	547	0.25045787545787546	118	0.23983739837398374	90	0.24861878453038674	127	0.22202797202797203	212	0.2796833773087071	N	9.818	1.185018	0.21870	.	.	ENSG00000234745	ENST00000412585;ENST00000434333	T;T	0.00012	9.29;9.29	3.15	2.27	0.28462	MHC class I, alpha chain, alpha1/alpha2 (4);MHC classes I/II-like antigen recognition protein (2);MHC class I-like antigen recognition (2);	0.000000	0.37095	U	0.002257	T	0.00073	0.0002	M	0.86268	2.805	0.53005	P	3.399999999997849E-5	B;B	0.20550	0.046;0.011	B;B	0.39119	0.201;0.291	T	0.08827	-1.0703	9	0.52906	T	0.07	.	8.4711	0.32986	0.1204:0.0:0.8796:0.0	rs12721827;rs17416961	118;118	P30480;P01889	1B42_HUMAN;1B07_HUMAN	I	118;129	ENSP00000399168:T118I;ENSP00000405931:T129I	ENSP00000399168:T118I	T	-	2	0	HLA-B	31432189	0.988000	0.35896	0.715000	0.30552	0.003000	0.03518	2.069000	0.41481	0.697000	0.31718	-0.722000	0.03604	ACC		0.687	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514		A	31324210	G	A	31324210	3	1	749	1	0	0	0	0	1	0	0	0	7198	1261	44	2	755	2	HLA-B	6	31324210	Missense_Mutation	SNP	G	TCGA-KO-8408-01A-11D-2310-10	2	31324210	139790857	36	43965	441	2									
HLA-B	3106	broad.mit.edu	37	6	31324488	31324489	+	Frame_Shift_Ins	INS	-	-	GG	rs554035740|rs375356947|rs3180380|rs41552715	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr6:31324488_31324489insGG	ENST00000412585.2	-	2	347_348	c.319_320insCC	c.(319-321)ggcfs	p.G107fs		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	107	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						GTTGTAGTAGCCGCGCAGGTTC	0.683									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																																							0										902,3226		186,530,1348						2.3	0.1		dbSNP_130	41	1339,6747		223,893,2927	no	frameshift	HLA-B	NM_005514.6		409,1423,4275	A1A1,A1R,RR		16.5595,21.8508,18.3478				2241,9973				SO:0001589	frameshift_variant	3106	Familial Cancer Database	;Lichen Sclerosis, Familial	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4932	protein-coding gene	gene with protein product		142830	"ankylosing spondylitis"	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.319_320insCC	6.37:g.31324488_31324489insGG	ENSP00000399168:p.Gly107fs		Q29764	Frame_Shift_Ins	INS	ENST00000412585.2	37	CCDS34394.1																																																																																				0.683	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514		GG	31324489	-	GG	31324488	7	5	749	1	0	1	1	0	0	0	0	0	7198	739	26	0	792	0	HLA-B	6	31324488	Frame_Shift_Ins	INS	-	TCGA-KO-8408-01A-11D-2310-10	278	31324488	139790579	37	43966											
SYNE1	23345	ucsc.edu	37	6	152577848	152577848	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr6:152577848T>C	ENST00000367255.5	-	102	19626	c.19025A>G	c.(19024-19026)gAc>gGc	p.D6342G	SYNE1_ENST00000448038.1_Missense_Mutation_p.D6271G|SYNE1_ENST00000341594.5_Missense_Mutation_p.D5954G|SYNE1_ENST00000356820.4_Missense_Mutation_p.D866G|SYNE1_ENST00000265368.4_Missense_Mutation_p.D6342G|SYNE1_ENST00000423061.1_Missense_Mutation_p.D6271G	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6342					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)		GGTTGGCACGTCCCCTTTGTA	0.473										HNSCC(10;0.0054)																																						0													179	149	159					6																	152577848		2203	4300	6503	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.19025A>G	6.37:g.152577848T>C	ENSP00000356224:p.Asp6342Gly		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	13.55	2.271004	0.40194	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.55760	0.6;0.59;0.5;0.59;0.7;2.56	5.29	5.29	0.74685	.	0.398931	0.23718	N	0.045244	T	0.28962	0.0719	L	0.29908	0.895	0.40582	D	0.981402	B;B;P	0.36959	0.44;0.44;0.575	B;B;B	0.33620	0.08;0.08;0.167	T	0.34976	-0.9807	10	0.66056	D	0.02	.	15.5191	0.75851	0.0:0.0:0.0:1.0	.	6342;6342;6271	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	G	6342;6271;6342;6271;5954;866	ENSP00000356224:D6342G;ENSP00000396024:D6271G;ENSP00000265368:D6342G;ENSP00000390975:D6271G;ENSP00000341887:D5954G;ENSP00000349276:D866G	ENSP00000265368:D6342G	D	-	2	0	SYNE1	152619541	1.000000	0.71417	0.487000	0.27428	0.370000	0.29829	6.003000	0.70701	2.128000	0.65567	0.528000	0.53228	GAC		0.473	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		C	152577848	T	C	152577848	3	2	749	1	0	0	0	0	1	0	0	0	15450	1667	58	3	7621	3	SYNE1	6	152577848	Missense_Mutation	SNP	T	TCGA-KO-8408-01A-11D-2310-10	121253360	152577848	18537219	38	43967											
C7orf50	84310	ucsc.edu	37	7	1167008	1167008	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr7:1167008T>C	ENST00000397098.3	-	2	940	c.14A>G	c.(13-15)aAg>aGg	p.K5R	C7orf50_ENST00000397100.2_Missense_Mutation_p.K5R|C7orf50_ENST00000357429.6_Missense_Mutation_p.K5R|C7orf50_ENST00000488073.1_5'UTR			Q9BRJ6	CG050_HUMAN	chromosome 7 open reading frame 50	5							poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0216)|OV - Ovarian serous cystadenocarcinoma(56;1.3e-15)		AACTTTTCTCTTCTGTTTTGC	0.443																																																0													60	53	55					7																	1167008		2203	4300	6503	SO:0001583	missense	84310			BC006224	CCDS5320.1	7p22.3	2011-11-25			ENSG00000146540	ENSG00000146540			22421	protein-coding gene	gene with protein product							Standard	NM_032350		Approved	MGC11257, YCR016W	uc011jvu.1	Q9BRJ6	OTTHUMG00000151477	ENST00000397098.3:c.14A>G	7.37:g.1167008T>C	ENSP00000380286:p.Lys5Arg			Missense_Mutation	SNP	ENST00000397098.3	37	CCDS5320.1	.	.	.	.	.	.	.	.	.	.	T	14.47	2.543912	0.45280	.	.	ENSG00000146540	ENST00000397100;ENST00000397098;ENST00000357429;ENST00000491163	.	.	.	3.68	3.68	0.42216	.	0.069851	0.53938	D	0.000047	T	0.36110	0.0955	L	0.27053	0.805	0.26005	N	0.98206	D	0.67145	0.996	P	0.57679	0.825	T	0.07635	-1.0762	9	0.37606	T	0.19	-16.775	9.0127	0.36150	0.0:0.0:0.0:1.0	.	5	Q9BRJ6	CG050_HUMAN	R	5	.	ENSP00000350011:K5R	K	-	2	0	C7orf50	1133534	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	2.740000	0.47418	1.902000	0.55061	0.533000	0.62120	AAG		0.443	C7orf50-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322817.3	NM_032350		C	1167008	T	C	1167008	3	2	749	1	0	0	0	0	1	0	0	0	2401	1609	56	3	586	3	C7orf50	7	1167008	Missense_Mutation	SNP	T	TCGA-KO-8408-01A-11D-2310-10		1167008	157971655	39	43968											
RADIL	55698	mdanderson.org	37	7	4841470	4841470	+	Missense_Mutation	SNP	T	T	C	rs414035	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr7:4841470T>C	ENST00000399583.3	-	12	2843	c.2656A>G	c.(2656-2658)Agc>Ggc	p.S886G	RADIL_ENST00000536091.1_3'UTR|RADIL_ENST00000538469.1_Missense_Mutation_p.S646G	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	886	Pro-rich.		S -> G (in dbSNP:rs414035). {ECO:0000269|PubMed:11230166, ECO:0000269|PubMed:11347906, ECO:0000269|PubMed:12690205, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005, ECO:0000269|Ref.6}.		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)		CCCCCACGGCTGGGTTGCCTT	0.726													C|||	4990	0.996406	1.0	0.9885	5008	,	,		12822	1.0		0.9901	False		,,,				2504	1.0															0								C	GLY/SER	3271,3		1634,3,0	5	7	6		2656	0.2	0	7	dbSNP_80	6	7442,54		3694,54,0	no	missense	RADIL	NM_018059.4	56	5328,57,0	CC,CT,TT		0.7204,0.0916,0.5292	benign	886/1076	4841470	10713,57	1637	3748	5385	SO:0001583	missense	55698			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.2656A>G	7.37:g.4841470T>C	ENSP00000382492:p.Ser886Gly		A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Missense_Mutation	SNP	ENST00000399583.3	37	CCDS43544.1	2176|2176	0.9963369963369964|0.9963369963369964	492|492	1.0|1.0	358|358	0.988950276243094|0.988950276243094	572|572	1.0|1.0	754|754	0.9947229551451188|0.9947229551451188	C|C	0.006|0.006	-2.029879|-2.029879	0.00410|0.00410	0.999084|0.999084	0.992796|0.992796	ENSG00000157927|ENSG00000157927	ENST00000544486|ENST00000399583;ENST00000316919;ENST00000538469	.|T;T	.|0.06687	.|3.34;3.27	4.94|4.94	0.203|0.203	0.15195|0.15195	.|.	.|1.064910	.|0.07231	.|N	.|0.862627	.|T	.|0.00012	.|0.0000	N|N	0.00210|0.00210	-1.845|-1.845	0.49687|0.49687	P|P	1.8300000000004424E-4|1.8300000000004424E-4	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.04013	.|0.0;0.001	.|T	.|0.38394	.|-0.9663	.|9	.|0.12766	.|T	.|0.61	.|-6.6034	12.4289|12.4289	0.55563|0.55563	0.0:0.6455:0.0:0.3545|0.0:0.6455:0.0:0.3545	rs414035;rs10370995;rs57619776|rs414035;rs10370995;rs57619776	.|886;194	.|Q96JH8;Q75LH2	.|RADIL_HUMAN;.	.|G	-1|886;857;646	.|ENSP00000382492:S886G;ENSP00000442966:S646G	.|ENSP00000320946:S857G	.|S	-|-	.|1	.|0	RADIL|RADIL	4807996|4807996	0.007000|0.007000	0.16637|0.16637	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.568000|-0.568000	0.05909|0.05909	-1.265000|-1.265000	0.02449|0.02449	-3.198000|-3.198000	0.00054|0.00054	.|AGC		0.726	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059		C	4841470	T	C	4841470	3	2	749	1	0	0	0	0	1	0	0	0	13003	1580	55	3	587	3	RADIL	7	4841470	Missense_Mutation	SNP	T	TCGA-KO-8408-01A-11D-2310-10	3674462	4841470	154297193	40	43969											
TNRC18	84629	mdanderson.org	37	7	5353337	5353337	+	Missense_Mutation	SNP	C	C	A			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr7:5353337C>A	ENST00000430969.1	-	27	7533	c.7185G>T	c.(7183-7185)caG>caT	p.Q2395H	TNRC18_ENST00000399537.4_Missense_Mutation_p.Q2395H	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2395	Pro-rich.						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)		CGGGACTGGGCTGCGGCGGTG	0.701																																																0													10	13	12					7																	5353337		1560	3566	5126	SO:0001583	missense	84629			U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"Trinucleotide (CAG) repeat containing"	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.7185G>T	7.37:g.5353337C>A	ENSP00000395538:p.Gln2395His		A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	37	CCDS47534.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	7.046|7.046	0.563541|0.563541	0.13498|0.13498	.|.	.|.	ENSG00000182095|ENSG00000182095	ENST00000328270|ENST00000399537;ENST00000430969	.|T;T	.|0.12879	.|2.65;2.64	4.73|4.73	1.92|1.92	0.25849|0.25849	.|.	.|0.000000	.|0.33023	.|N	.|0.005364	T|T	0.11024|0.11024	0.0269|0.0269	L|L	0.47716|0.47716	1.5|1.5	0.27352|0.27352	N|N	0.956201|0.956201	.|B	.|0.26120	.|0.142	.|B	.|0.19391	.|0.025	T|T	0.20107|0.20107	-1.0285|-1.0285	5|10	.|0.32370	.|T	.|0.25	.|.	8.3507|8.3507	0.32301|0.32301	0.0:0.7501:0.0:0.2499|0.0:0.7501:0.0:0.2499	.|.	.|2395	.|O15417	.|TNC18_HUMAN	S|H	209|2395	.|ENSP00000382452:Q2395H;ENSP00000395538:Q2395H	.|ENSP00000382452:Q2395H	A|Q	-|-	1|3	0|2	TNRC18|TNRC18	5319863|5319863	0.999000|0.999000	0.42202|0.42202	0.767000|0.767000	0.31495|0.31495	0.003000|0.003000	0.03518|0.03518	0.746000|0.746000	0.26275|0.26275	0.093000|0.093000	0.17368|0.17368	-0.258000|-0.258000	0.10820|0.10820	GCC|CAG		0.701	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				A	5353337	C	A	5353337	3	1	749	1	0	0	0	0	1	0	0	0	16344	796	28	4	1737	4	TNRC18	7	5353337	Missense_Mutation	SNP	C	TCGA-KO-8408-01A-11D-2310-10	511867	5353337	153785326	41	43970											
HIP1	3092	broad.mit.edu	37	7	75187548	75187549	+	Frame_Shift_Ins	INS	-	-	T			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr7:75187548_75187549insT	ENST00000336926.6	-	15	1412_1413	c.1386_1387insA	c.(1384-1389)caagccfs	p.A463fs	HIP1_ENST00000434438.2_Frame_Shift_Ins_p.A463fs	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	463	pDED.				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						TGTTCATTGGCTTGAGCTTTCC	0.535			T	PDGFRB	CMML																																		Dom	yes		7	7q11.23	3092	huntingtin interacting protein 1		L	0																																										SO:0001589	frameshift_variant	3092			AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.1387dupA	7.37:g.75187550_75187550dupT	ENSP00000336747:p.Ala463fs		B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Frame_Shift_Ins	INS	ENST00000336926.6	37	CCDS34669.1																																																																																				0.535	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	NM_005338		T	75187549	-	T	75187548	7	5	749	1	0	1	1	0	0	0	0	0	7116	797	28	0	1794	0	HIP1	7	75187548	Frame_Shift_Ins	INS	-	TCGA-KO-8408-01A-11D-2310-10	69834211	75187548	83951115	42	43971											
MDH2	4191	mdanderson.org	37	7	75677504	75677504	+	Missense_Mutation	SNP	C	C	T	rs6720	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr7:75677504C>T	ENST00000315758.5	+	1	120	c.26C>T	c.(25-27)gCc>gTc	p.A9V	STYXL1_ENST00000359697.3_5'Flank|MDH2_ENST00000443006.1_5'UTR|STYXL1_ENST00000431581.1_5'Flank|STYXL1_ENST00000340062.5_5'Flank|STYXL1_ENST00000248600.1_5'Flank|MDH2_ENST00000461263.2_Missense_Mutation_p.A9V|STYXL1_ENST00000460184.2_5'Flank|MDH2_ENST00000432020.2_Missense_Mutation_p.A9V|STYXL1_ENST00000360591.3_5'Flank|STYXL1_ENST00000451157.1_5'Flank|MDH2_ENST00000490105.1_3'UTR	NM_005918.2	NP_005909.2	P40926	MDHM_HUMAN	malate dehydrogenase 2, NAD (mitochondrial)	9			A -> V (in dbSNP:rs17849553). {ECO:0000269|PubMed:15489334, ECO:0000269|Ref.1}.		carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|internal protein amino acid acetylation (GO:0006475)|malate metabolic process (GO:0006108)|NADH metabolic process (GO:0006734)|oxaloacetate metabolic process (GO:0006107)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	L-malate dehydrogenase activity (GO:0030060)|malate dehydrogenase (NADP+) activity (GO:0046554)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(2)	14						GCCCGGCCTGCCAGCGCTGCT	0.741													c|||	2615	0.522165	0.7073	0.4164	5008	,	,		14327	0.6071		0.327	False		,,,				2504	0.4601															0								C	VAL/ALA	2410,1644		759,892,376	9	7	8		26	0.6	0	7	dbSNP_123	8	2255,5607		413,1429,2089	no	missense	MDH2	NM_005918.2	64	1172,2321,2465	TT,TC,CC		28.6823,40.5525,39.149	benign	9/339	75677504	4665,7251	2027	3931	5958	SO:0001583	missense	4191				CCDS5581.1, CCDS64691.1, CCDS75622.1	7q11.23	2013-09-20			ENSG00000146701	ENSG00000146701	1.1.1.37		6971	protein-coding gene	gene with protein product		154100					Standard	NM_005918		Approved		uc003ueo.3	P40926	OTTHUMG00000023827	ENST00000315758.5:c.26C>T	7.37:g.75677504C>T	ENSP00000327070:p.Ala9Val		A8K414|B2RE78|B4DE44|E9PDB2|O43682	Missense_Mutation	SNP	ENST00000315758.5	37	CCDS5581.1	1104	0.5054945054945055	353	0.717479674796748	147	0.40607734806629836	356	0.6223776223776224	248	0.32717678100263853	C	15.67	2.903178	0.52333	0.594475	0.286823	ENSG00000146701	ENST00000315758;ENST00000432020	T;T	0.41758	0.99;0.99	5.57	0.558	0.17266	.	0.307415	0.35262	N	0.003322	T	0.00012	0.0000	L	0.33624	1.015	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34054	-0.9844	9	0.25751	T	0.34	-8.1463	9.0275	0.36239	0.0:0.6206:0.0:0.3794	rs6720	9;9	E9PDB2;P40926	.;MDHM_HUMAN	V	9	ENSP00000327070:A9V;ENSP00000408649:A9V	ENSP00000327070:A9V	A	+	2	0	MDH2	75515440	0.001000	0.12720	0.004000	0.12327	0.754000	0.42855	0.356000	0.20181	0.047000	0.15862	0.650000	0.86243	GCC		0.741	MDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252851.1			T	75677504	C	T	75677504	3	4	749	1	0	0	0	0	1	0	0	0	9412	739	26	2	28	2	MDH2	7	75677504	Missense_Mutation	SNP	C	TCGA-KO-8408-01A-11D-2310-10	489956	75677504	83461159	43	43972											
DTX2	113878	mdanderson.org	37	7	76112348	76112348	+	Silent	SNP	C	C	G			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr7:76112348C>G	ENST00000324432.5	+	5	1302	c.792C>G	c.(790-792)acC>acG	p.T264T	DTX2_ENST00000307569.8_Silent_p.T264T|DTX2_ENST00000446600.1_Silent_p.T173T|DTX2_ENST00000446820.2_Silent_p.T264T|DTX2_ENST00000430490.2_Silent_p.T264T|DTX2_ENST00000413936.2_Silent_p.T264T	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	264					Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						TGAACACCACCAACGCCTGGG	0.672																																																0													66	77	74					7																	76112348		2203	4300	6503	SO:0001819	synonymous_variant	113878				CCDS5587.1, CCDS43605.1	7q11.23	2014-01-28	2014-01-28		ENSG00000091073	ENSG00000091073		"RING-type (C3HC4) zinc fingers"	15973	protein-coding gene	gene with protein product		613141	"deltex (Drosophila) homolog 2", "deltex homolog 2 (Drosophila)"			12670957	Standard	NM_020892		Approved	RNF58, KIAA1528	uc003ufh.4	Q86UW9	OTTHUMG00000162594	ENST00000324432.5:c.792C>G	7.37:g.76112348C>G			Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Silent	SNP	ENST00000324432.5	37	CCDS5587.1																																																																																				0.672	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253104.2			G	76112348	C	G	76112348	2	3	749	1	0	0	0	0	0	0	0	1	4796	581	21	4		4	DTX2	7	76112348	Silent	SNP	C	TCGA-KO-8408-01A-11D-2310-10	434844	76112348	83026315	44	43973											
C7orf51	222950	broad.mit.edu	37	7	100084672	100084673	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr7:100084672_100084673insG	ENST00000300179.2	+	3	456_457	c.297_298insG	c.(298-300)gggfs	p.G100fs	NYAP1_ENST00000423930.1_Frame_Shift_Ins_p.G100fs|NYAP1_ENST00000454988.1_Frame_Shift_Ins_p.G43fs	NM_173564.2	NP_775835.2	Q6ZVC0	NYAP1_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	100	Involved in CYFIP1- and NCKAP1-binding. {ECO:0000250}.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												GTGGCCCTGGCGGGGCCAGTGG	0.723																																																0																																										SO:0001589	frameshift_variant	222950			AK094857	CCDS5696.1	7q22.1	2011-11-30	2011-11-30	2011-11-30	ENSG00000166924	ENSG00000166924			22009	protein-coding gene	gene with protein product		615477	"chromosome 7 open reading frame 51", "KIAA1486-like"	C7orf51, KIAA1486L		21946561	Standard	NM_173564		Approved	FLJ37538	uc003uvd.2	Q6ZVC0	OTTHUMG00000155290	ENST00000300179.2:c.301dupG	7.37:g.100084676_100084676dupG	ENSP00000300179:p.Gly100fs		Q6U9Y3|Q8N1V0	Frame_Shift_Ins	INS	ENST00000300179.2	37	CCDS5696.1																																																																																				0.723	NYAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339335.2	NM_173564		G	100084673	-	G	100084672	7	5	749	1	0	1	1	0	0	0	0	0	2402	755	27	0	303	0	C7orf51	7	100084672	Frame_Shift_Ins	INS	-	TCGA-KO-8408-01A-11D-2310-10	23972324	100084672	59053991	45	43974											
PCOLCE	5118	broad.mit.edu;hgsc.bcm.edu	37	7	100204166	100204166	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr7:100204166delG	ENST00000223061.5	+	6	1133	c.853delG	c.(853-855)ggcfs	p.G285fs	PCOLCE-AS1_ENST00000442166.2_RNA|PCOLCE-AS1_ENST00000446022.1_RNA	NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	285					multicellular organismal development (GO:0007275)|positive regulation of peptidase activity (GO:0010952)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GCAAGGGCCCGGCCCCAAACG	0.602																																																0													44	47	46					7																	100204166		2203	4300	6503	SO:0001589	frameshift_variant	5118			L33799	CCDS5700.1	7q22	2008-07-18			ENSG00000106333	ENSG00000106333			8738	protein-coding gene	gene with protein product	"procollagen, type 1, COOH-terminal proteinase enhancer", "procollagen C-proteinase enhancer 1"	600270				8824813, 9799793	Standard	NM_002593		Approved	PCPE, PCPE1	uc003uvo.3	Q15113	OTTHUMG00000156675	ENST00000223061.5:c.853delG	7.37:g.100204166delG	ENSP00000223061:p.Gly285fs		B2R9E1|O14550	Frame_Shift_Del	DEL	ENST00000223061.5	37	CCDS5700.1																																																																																				0.602	PCOLCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345285.1	NM_002593		-	100204166	G	-	100204166	7	5	749	1	0	1	0	1	0	0	0	0	11596	1116	39	0	875	0	PCOLCE	7	100204166	Frame_Shift_Del	DEL	G	TCGA-KO-8408-01A-11D-2310-10	119494	100204166	58934497	46	43975	442	3									
PCOLCE	5118	bcgsc.ca	37	7	100204167	100204167	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr7:100204167delG	ENST00000223061.5	+	6	1134	c.854delG	c.(853-855)ggcfs	p.G285fs	PCOLCE-AS1_ENST00000442166.2_RNA|PCOLCE-AS1_ENST00000446022.1_RNA	NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	285					multicellular organismal development (GO:0007275)|positive regulation of peptidase activity (GO:0010952)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CAAGGGCCCGGCCCCAAACGG	0.597																																																0													44	47	46					7																	100204167		2203	4300	6503	SO:0001589	frameshift_variant	5118			L33799	CCDS5700.1	7q22	2008-07-18			ENSG00000106333	ENSG00000106333			8738	protein-coding gene	gene with protein product	"procollagen, type 1, COOH-terminal proteinase enhancer", "procollagen C-proteinase enhancer 1"	600270				8824813, 9799793	Standard	NM_002593		Approved	PCPE, PCPE1	uc003uvo.3	Q15113	OTTHUMG00000156675	ENST00000223061.5:c.854delG	7.37:g.100204167delG	ENSP00000223061:p.Gly285fs		B2R9E1|O14550	Frame_Shift_Del	DEL	ENST00000223061.5	37	CCDS5700.1																																																																																				0.597	PCOLCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345285.1	NM_002593		-	100204167	G	-	100204167	7	5	749	1	0	1	0	1	0	0	0	0	11596	1203	42	0	876	0	PCOLCE	7	100204167	Frame_Shift_Del	DEL	G	TCGA-KO-8408-01A-11D-2310-10	1	100204167	58934496	47	43976	442	3									
PCOLCE	5118	hgsc.bcm.edu	37	7	100204168	100204168	+	Silent	SNP	C	C	A			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr7:100204168C>A	ENST00000223061.5	+	6	1135	c.855C>A	c.(853-855)ggC>ggA	p.G285G	PCOLCE-AS1_ENST00000442166.2_RNA|PCOLCE-AS1_ENST00000446022.1_RNA	NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	285					multicellular organismal development (GO:0007275)|positive regulation of peptidase activity (GO:0010952)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					AAGGGCCCGGCCCCAAACGGG	0.597																																																0													45	47	46					7																	100204168		2203	4300	6503	SO:0001819	synonymous_variant	5118			L33799	CCDS5700.1	7q22	2008-07-18			ENSG00000106333	ENSG00000106333			8738	protein-coding gene	gene with protein product	"procollagen, type 1, COOH-terminal proteinase enhancer", "procollagen C-proteinase enhancer 1"	600270				8824813, 9799793	Standard	NM_002593		Approved	PCPE, PCPE1	uc003uvo.3	Q15113	OTTHUMG00000156675	ENST00000223061.5:c.855C>A	7.37:g.100204168C>A			B2R9E1|O14550	Silent	SNP	ENST00000223061.5	37	CCDS5700.1																																																																																				0.597	PCOLCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345285.1	NM_002593		A	100204168	C	A	100204168	2	1	749	1	0	0	0	0	0	0	0	1	11596	726	26	4		4	PCOLCE	7	100204168	Silent	SNP	C	TCGA-KO-8408-01A-11D-2310-10	1	100204168	58934495	48	43977	442	3									
ZAN	7455	bcgsc.ca	37	7	100334192	100334192	+	RNA	SNP	C	C	T	rs200760090		TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr7:100334192C>T	ENST00000348028.3	+	0	358				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_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.R65*(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	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AGACTGGGTTCGAGCCAGTGG	0.622																																																1	Substitution - Nonsense(1)	large_intestine(1)						C	stop/ARG,stop/ARG	0,3648		0,0,1824	82	80	80		193,193	4.7	0.5	7		80	2,7762		0,2,3880	yes	stop-gained,stop-gained	ZAN	NM_003386.1,NM_173059.1	,	0,2,5704	TT,TC,CC		0.0258,0.0,0.0175	,	65/2813,65/2722	100334192	2,11410	1824	3882	5706			7455			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100334192C>T			A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Nonsense_Mutation	SNP	ENST00000348028.3	37		.	.	.	.	.	.	.	.	.	.	C	27.9	4.869836	0.91587	0.0	2.58E-4	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	.	.	.	4.7	4.7	0.59300	.	0.000000	0.29009	N	0.013438	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.8686	0.63603	0.0:1.0:0.0:0.0	.	.	.	.	X	65	.	ENSP00000423579:R65X	R	+	1	2	ZAN	100172128	0.062000	0.20869	0.490000	0.27465	0.318000	0.28184	2.025000	0.41059	2.551000	0.86045	0.561000	0.74099	CGA		0.622	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		T	100334192	C	T	100334192	1	4	749	0	1	0	0	0	0	0	0	0	17518	876	31	1		1	ZAN	7	100334192	RNA	SNP	C	TCGA-KO-8408-01A-11D-2310-10	130024	100334192	58804471	49	43978											
ZAN	7455	broad.mit.edu	37	7	100349927	100349927	+	RNA	DEL	C	C	-			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr7:100349927delC	ENST00000348028.3	+	0	2364				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_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)			AATCCACCATCTCCCCAGAAA	0.512																																																0													133	148	143					7																	100349927		1823	4070	5893			7455			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100349927delC			A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Frame_Shift_Del	DEL	ENST00000348028.3	37																																																																																					0.512	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		-	100349927	C	-	100349927	6	5	749	0	1	1	0	1	0	0	0	0	17518	903	32	0		0	ZAN	7	100349927	RNA	DEL	C	TCGA-KO-8408-01A-11D-2310-10	15735	100349927	58788736	50	43979	443	2									
ZAN	7455	broad.mit.edu	37	7	100349931	100349932	+	RNA	INS	-	-	T	rs376016003		TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr7:100349931_100349932insT	ENST00000348028.3	+	0	2368_2369				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_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)			CACCATCTCCCCAGAAAAACCC	0.515																																																0																																												7455			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100349931_100349932insT			A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Frame_Shift_Ins	INS	ENST00000348028.3	37																																																																																					0.515	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		T	100349932	-	T	100349931	6	5	749	0	1	1	1	0	0	0	0	0	17518	623	22	0		0	ZAN	7	100349931	RNA	INS	-	TCGA-KO-8408-01A-11D-2310-10	4	100349931	58788732	51	43980	443	2									
PLXNA4	91584	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	7	131913154	131913154	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr7:131913154C>T	ENST00000359827.3	-	6	2641	c.1679G>A	c.(1678-1680)cGg>cAg	p.R560Q	PLXNA4_ENST00000321063.4_Missense_Mutation_p.R560Q			Q9HCM2	PLXA4_HUMAN	plexin A4	560					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						GACCGTCAGCCGGACACACTG	0.592																																																0													82	87	85					7																	131913154		1987	4171	6158	SO:0001583	missense	91584			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.1679G>A	7.37:g.131913154C>T	ENSP00000352882:p.Arg560Gln		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.711357	0.30322	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.21361	2.01;2.01	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.12902	0.0313	N	0.08118	0	0.80722	D	1	B	0.19935	0.04	B	0.10450	0.005	T	0.19582	-1.0301	10	0.11794	T	0.64	.	20.2985	0.98592	0.0:1.0:0.0:0.0	.	560	Q9HCM2	PLXA4_HUMAN	Q	560	ENSP00000323194:R560Q;ENSP00000352882:R560Q	ENSP00000323194:R560Q	R	-	2	0	PLXNA4	131563694	0.998000	0.40836	1.000000	0.80357	0.976000	0.68499	2.067000	0.41461	2.793000	0.96121	0.655000	0.94253	CGG		0.592	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		T	131913154	C	T	131913154	3	4	749	1	0	0	0	0	1	0	0	0	12124	652	23	1	4113	1	PLXNA4	7	131913154	Missense_Mutation	SNP	C	TCGA-KO-8408-01A-11D-2310-10	31563223	131913154	27225509	52	43981											
SLC35B4	84912	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	7	133986798	133986798	+	Missense_Mutation	SNP	T	T	A	rs377475240		TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr7:133986798T>A	ENST00000378509.4	-	5	708	c.409A>T	c.(409-411)Atg>Ttg	p.M137L		NM_032826.4	NP_116215.1	Q969S0	S35B4_HUMAN	solute carrier family 35 (UDP-xylose/UDP-N-acetylglucosamine transporter), member B4	137					carbohydrate transport (GO:0008643)|regulation of gluconeogenesis (GO:0006111)|transmembrane transport (GO:0055085)|UDP-N-acetylglucosamine transport (GO:0015788)|UDP-xylose transport (GO:0015790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-N-acetylglucosamine transmembrane transporter activity (GO:0005462)|UDP-xylose transmembrane transporter activity (GO:0005464)			large_intestine(1)|lung(2)|skin(1)|stomach(1)	5						TTTGCTGACATAAAAGTGCAA	0.343																																																0													77	84	82					7																	133986798		2203	4300	6503	SO:0001583	missense	84912			AB052892	CCDS34756.1	7q33	2013-07-17	2013-07-17		ENSG00000205060	ENSG00000205060		"Solute carriers"	20584	protein-coding gene	gene with protein product		610923	"solute carrier family 35, member B4"				Standard	NM_032826		Approved	FLJ14697, YEA4	uc003vrn.3	Q969S0	OTTHUMG00000155321	ENST00000378509.4:c.409A>T	7.37:g.133986798T>A	ENSP00000367770:p.Met137Leu		A4D1P3|A6NNS4|Q53GQ7|Q8TCU7|Q96K33	Missense_Mutation	SNP	ENST00000378509.4	37	CCDS34756.1	.	.	.	.	.	.	.	.	.	.	T	15.03	2.712721	0.48517	.	.	ENSG00000205060	ENST00000378509	T	0.68181	-0.31	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.59810	0.2221	L	0.48362	1.52	0.80722	D	1	B;B;B	0.29646	0.253;0.128;0.155	B;B;B	0.31495	0.115;0.08;0.131	T	0.56214	-0.8016	10	0.11182	T	0.66	-1.4447	15.8874	0.79261	0.0:0.0:0.0:1.0	.	137;137;137	Q969S0-3;Q969S0-2;Q969S0	.;.;S35B4_HUMAN	L	137	ENSP00000367770:M137L	ENSP00000367770:M137L	M	-	1	0	SLC35B4	133637338	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	7.598000	0.82745	2.230000	0.72887	0.528000	0.53228	ATG		0.343	SLC35B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339444.2	NM_032826		A	133986798	T	A	133986798	3	1	749	1	0	0	0	0	1	0	0	0	14584	1406	49	5	610	5	SLC35B4	7	133986798	Missense_Mutation	SNP	T	TCGA-KO-8408-01A-11D-2310-10	2073644	133986798	25151865	53	43982											
PDIA4	9601	mdanderson.org	37	7	148725417	148725417	+	Missense_Mutation	SNP	G	G	T	rs368592590	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr7:148725417G>T	ENST00000286091.4	-	1	316	c.84C>A	c.(82-84)gaC>gaA	p.D28E		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	28	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)			GCTCACCCTCGTCCGGGCCCT	0.766													G|||	3	0.000599042	0.0	0.0	5008	,	,		9672	0.0		0.003	False		,,,				2504	0.0															0								G	GLU/ASP	2,3246		0,2,1622	4	6	6		84	4.7	0.9	7		6	6,5918		0,6,2956	no	missense	PDIA4	NM_004911.4	45	0,8,4578	TT,TG,GG		0.1013,0.0616,0.0872	benign	28/646	148725417	8,9164	1624	2962	4586	SO:0001583	missense	9601			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.84C>A	7.37:g.148725417G>T	ENSP00000286091:p.Asp28Glu		A8K4K6|Q549T6	Missense_Mutation	SNP	ENST00000286091.4	37	CCDS5893.1	.	.	.	.	.	.	.	.	.	.	G	5.261	0.233586	0.09969	6.16E-4	0.001013	ENSG00000155660	ENST00000286091;ENST00000413966	T;T	0.45668	2.28;0.89	5.58	4.69	0.59074	Thioredoxin-like fold (1);	1.385570	0.04197	N	0.329265	T	0.25195	0.0612	N	0.08118	0	0.24603	N	0.993766	B	0.20887	0.049	B	0.17979	0.02	T	0.12066	-1.0562	10	0.02654	T	1	.	11.8705	0.52517	0.0822:0.0:0.9178:0.0	.	28	P13667	PDIA4_HUMAN	E	28	ENSP00000286091:D28E;ENSP00000408628:D28E	ENSP00000286091:D28E	D	-	3	2	PDIA4	148356350	0.691000	0.27709	0.932000	0.37286	0.283000	0.27025	1.045000	0.30341	1.344000	0.45657	0.655000	0.94253	GAC		0.766	PDIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317077.1	NM_004911		T	148725417	G	T	148725417	3	4	749	1	0	0	0	0	1	0	0	0	11672	1136	40	4	1893	4	PDIA4	7	148725417	Missense_Mutation	SNP	G	TCGA-KO-8408-01A-11D-2310-10	14738619	148725417	10413246	54	43983											
KRBA1	84626	broad.mit.edu	37	7	149430350	149430351	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr7:149430350_149430351insC	ENST00000485033.2	+	15	2124_2125	c.2124_2125insC	c.(2125-2127)cccfs	p.P709fs	KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000319551.8_Frame_Shift_Ins_p.P709fs|KRBA1_ENST00000255992.10_Frame_Shift_Ins_p.P769fs			A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	770	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCAGTGAGTCTCCCCCTCCGGA	0.653																																																0																																										SO:0001589	frameshift_variant	84626			AB058765	CCDS75674.1	7q36	2014-02-12	2006-08-15		ENSG00000133619	ENSG00000133619		"-"	22228	protein-coding gene	gene with protein product			"KRAB A domain containing 1"				Standard	NM_001290187		Approved	KIAA1862	uc003wfz.3	A5PL33	OTTHUMG00000157886	ENST00000485033.2:c.2129dupC	7.37:g.149430355_149430355dupC	ENSP00000420112:p.Pro709fs		A7E2F5|E7ENE9|Q8N4X0|Q96JG5	Frame_Shift_Ins	INS	ENST00000485033.2	37																																																																																					0.653	KRBA1-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000349841.3	NM_032534		C	149430351	-	C	149430350	7	5	749	1	0	1	1	0	0	0	0	0	8441	1538	54	0	2368	0	KRBA1	7	149430350	Frame_Shift_Ins	INS	-	TCGA-KO-8408-01A-11D-2310-10	704933	149430350	9708313	55	43984											
ACTR3B	57180	mdanderson.org	37	7	152522195	152522195	+	Silent	SNP	C	C	T	rs200914813	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr7:152522195C>T	ENST00000256001.8	+	9	1073	c.939C>T	c.(937-939)cgC>cgT	p.R313R	ACTR3B_ENST00000537264.1_Silent_p.R225R|ACTR3B_ENST00000397282.2_Silent_p.R225R|ACTR3B_ENST00000377776.3_Silent_p.R313R	NM_020445.5	NP_065178.1	Q9P1U1	ARP3B_HUMAN	ARP3 actin-related protein 3 homolog B (yeast)	313						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)		ATGTGCGGCGCCCGCTGTATA	0.413																																																0													85	79	81					7																	152522195		2203	4300	6503	SO:0001819	synonymous_variant	57180				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.939C>T	7.37:g.152522195C>T			A8MTG1|B4DFW4|Q7Z526|Q96BT2	Silent	SNP	ENST00000256001.8	37	CCDS5934.1																																																																																				0.413	ACTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322803.1	NM_020445		T	152522195	C	T	152522195	2	4	749	1	0	0	0	0	0	0	0	1	213	726	26	2		2	ACTR3B	7	152522195	Silent	SNP	C	TCGA-KO-8408-01A-11D-2310-10	3091845	152522195	6616468	56	43985											
HR	55806	broad.mit.edu	37	8	21980059	21980060	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr8:21980059_21980060insG	ENST00000381418.4	-	8	3547_3548	c.2067_2068insC	c.(2065-2070)cactgcfs	p.C690fs	HR_ENST00000312841.8_Frame_Shift_Ins_p.C690fs	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	690					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)		TGGCAGGGGCAGTGCCCCCGGA	0.639																																																0																																										SO:0001589	frameshift_variant	55806			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.2068dupC	8.37:g.21980060_21980060dupG	ENSP00000370826:p.Cys690fs		Q6GS30|Q96H33|Q9NPE1	Frame_Shift_Ins	INS	ENST00000381418.4	37	CCDS6022.1																																																																																				0.639	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214213.1			G	21980060	-	G	21980059	7	5	749	1	0	1	1	0	0	0	0	0	7349	188	7	0	1549	0	HR	8	21980059	Frame_Shift_Ins	INS	-	TCGA-KO-8408-01A-11D-2310-10		21980059	124383963	57	43986											
BMP1	649	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	8	22052331	22052331	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr8:22052331A>G	ENST00000306385.5	+	12	2208	c.1538A>G	c.(1537-1539)gAg>gGg	p.E513G	BMP1_ENST00000397814.3_Missense_Mutation_p.E513G|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397816.3_Missense_Mutation_p.E513G|BMP1_ENST00000306349.8_Missense_Mutation_p.E513G	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	513	CUB 2. {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)		TGTGGCTATGAGAAGCCTGAT	0.567																																																0													81	80	80					8																	22052331		2203	4300	6503	SO:0001583	missense	649				CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"Bone morphogenetic proteins"	1067	protein-coding gene	gene with protein product	"procollagen C-endopeptidase"	112264	"procollagen C-endopeptidase"	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.1538A>G	8.37:g.22052331A>G	ENSP00000305714:p.Glu513Gly		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Missense_Mutation	SNP	ENST00000306385.5	37	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	A	19.24	3.789672	0.70337	.	.	ENSG00000168487	ENST00000306385;ENST00000397816;ENST00000306349;ENST00000397814	T;T;T;T	0.18338	2.22;2.22;2.22;2.22	5.25	5.25	0.73442	CUB (5);	0.000000	0.38959	U	0.001504	T	0.22551	0.0544	L	0.33293	1	0.80722	D	1	P;P;P;P	0.51653	0.763;0.932;0.947;0.862	B;P;P;P	0.51945	0.355;0.685;0.661;0.526	T	0.00931	-1.1510	10	0.44086	T	0.13	.	14.1289	0.65240	1.0:0.0:0.0:0.0	.	513;586;513;513	P13497;Q59F71;P13497-2;P13497-6	BMP1_HUMAN;.;.;.	G	513	ENSP00000305714:E513G;ENSP00000380917:E513G;ENSP00000306121:E513G;ENSP00000380915:E513G	ENSP00000306121:E513G	E	+	2	0	BMP1	22108276	1.000000	0.71417	0.998000	0.56505	0.946000	0.59487	9.339000	0.96797	1.973000	0.57446	0.379000	0.24179	GAG		0.567	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		G	22052331	A	G	22052331	3	3	749	1	0	0	0	0	1	0	0	0	1456	304	11	3	1584	3	BMP1	8	22052331	Missense_Mutation	SNP	A	TCGA-KO-8408-01A-11D-2310-10	72272	22052331	124311691	58	43987											
FAM150A	389658	mdanderson.org	37	8	53477780	53477780	+	Missense_Mutation	SNP	G	G	C			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr8:53477780G>C	ENST00000358543.4	-	1	287	c.37C>G	c.(37-39)Ctc>Gtc	p.L13V	FAM150A_ENST00000523939.1_Missense_Mutation_p.L13V	NM_207413.3	NP_997296.1	Q6UXT8	F150A_HUMAN	family with sequence similarity 150, member A	13						extracellular region (GO:0005576)				lung(1)	1		Lung NSC(129;0.0919)|all_epithelial(80;0.125)|all_lung(136;0.17)				AGCAGGAAGAGTGCGGGCAAA	0.716																																																0													2	3	3					8																	53477780		1704	3379	5083	SO:0001583	missense	389658				CCDS6150.1	8q11.23	2007-12-18			ENSG00000196711	ENSG00000196711			33775	protein-coding gene	gene with protein product							Standard	NM_207413		Approved	UNQ9433	uc003xrd.3	Q6UXT8	OTTHUMG00000164256	ENST00000358543.4:c.37C>G	8.37:g.53477780G>C	ENSP00000351345:p.Leu13Val		B7ZMG9	Missense_Mutation	SNP	ENST00000358543.4	37	CCDS6150.1	.	.	.	.	.	.	.	.	.	.	G	11.22	1.574998	0.28092	.	.	ENSG00000196711	ENST00000358543;ENST00000523939	.	.	.	2.65	1.76	0.24704	.	0.282155	0.21875	U	0.067834	T	0.32406	0.0828	N	0.24115	0.695	0.09310	N	1	D;D	0.60160	0.987;0.974	P;P	0.56088	0.791;0.671	T	0.06698	-1.0812	9	0.72032	D	0.01	.	5.4181	0.16386	0.1615:0.0:0.8385:0.0	.	13;13	B7ZMG9;Q6UXT8	.;F150A_HUMAN	V	13	.	ENSP00000351345:L13V	L	-	1	0	FAM150A	53640333	0.006000	0.16342	0.008000	0.14137	0.030000	0.12068	0.943000	0.29030	0.666000	0.31087	0.467000	0.42956	CTC		0.716	FAM150A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377959.1	NM_207413		C	53477780	G	C	53477780	3	2	749	1	0	0	0	0	1	0	0	0	5458	1029	36	4	368	4	FAM150A	8	53477780	Missense_Mutation	SNP	G	TCGA-KO-8408-01A-11D-2310-10	31425449	53477780	92886242	59	43988											
RIPK2	8767	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	8	90802425	90802425	+	Silent	SNP	G	G	A			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr8:90802425G>A	ENST00000220751.4	+	11	1718	c.1404G>A	c.(1402-1404)ttG>ttA	p.L468L	RIPK2_ENST00000540020.1_Silent_p.L331L	NM_003821.5	NP_003812.1	O43353	RIPK2_HUMAN	receptor-interacting serine-threonine kinase 2	468	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				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)			CCAGGGACTTGATCATGAAAG	0.453																																																0													98	94	95					8																	90802425		2203	4300	6503	SO:0001819	synonymous_variant	8767			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.1404G>A	8.37:g.90802425G>A			B7Z748|Q6UWF0	Silent	SNP	ENST00000220751.4	37	CCDS6247.1																																																																																				0.453	RIPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375686.1			A	90802425	G	A	90802425	2	1	749	1	0	0	0	0	0	0	0	1	13387	1281	45	2		2	RIPK2	8	90802425	Silent	SNP	G	TCGA-KO-8408-01A-11D-2310-10	37324645	90802425	55561597	60	43989											
COL14A1	7373	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	8	121238908	121238908	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	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_ENST00000537875.1_3'UTR|COL14A1_ENST00000247781.3_Missense_Mutation_p.T541M	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																																																0													95	86	89					8																	121238908		2203	4300	6503	SO:0001583	missense	7373				CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"Collagens", "Fibronectin type III domain containing"	2191	protein-coding gene	gene with protein product		120324	"undulin"	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.1907C>T	8.37:g.121238908C>T	ENSP00000297848:p.Thr636Met			Missense_Mutation	SNP	ENST00000297848.3	37	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		T	121238908	C	T	121238908	3	4	749	1	0	0	0	0	1	0	0	0	3673	536	19	1	1965	1	COL14A1	8	121238908	Missense_Mutation	SNP	C	TCGA-KO-8408-01A-11D-2310-10	30436483	121238908	25125114	61	43990											
EPPK1	83481	mdanderson.org	37	8	144940378	144940378	+	Silent	SNP	G	G	A			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr8:144940378G>A	ENST00000525985.1	-	2	7115	c.7044C>T	c.(7042-7044)gtC>gtT	p.V2348V				P58107	EPIPL_HUMAN	epiplakin 1	2348						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)			CGGGGTCGATGACGCCGCCCG	0.701																																																0													194	188	190					8																	144940378		2168	4240	6408	SO:0001819	synonymous_variant	83481			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.7044C>T	8.37:g.144940378G>A			Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37																																																																																					0.701	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		A	144940378	G	A	144940378	2	1	749	1	0	0	0	0	0	0	0	1	5192	1277	45	2		2	EPPK1	8	144940378	Silent	SNP	G	TCGA-KO-8408-01A-11D-2310-10	23701470	144940378	1423644	62	43991											
OPLAH	26873	broad.mit.edu	37	8	145108284	145108284	+	Missense_Mutation	SNP	G	G	T	rs186909122		TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr8:145108284G>T	ENST00000426825.1	-	20	2780	c.2699C>A	c.(2698-2700)gCc>gAc	p.A900D	OPLAH_ENST00000534424.1_5'UTR|CTD-3065J16.6_ENST00000528912.1_RNA|CTD-3065J16.6_ENST00000561181.1_RNA	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	900					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGCCCGCAGGGCCTCCGTCAC	0.647																																																0													44	52	50					8																	145108284		2081	4210	6291	SO:0001583	missense	26873			AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.2699C>A	8.37:g.145108284G>T	ENSP00000475943:p.Ala900Asp		A5PKY8|Q75W65|Q9Y4Q0	Missense_Mutation	SNP	ENST00000426825.1	37		.	.	.	.	.	.	.	.	.	.	G	14.54	2.564475	0.45694	.	.	ENSG00000178814	ENST00000426825	.	.	.	4.56	3.44	0.39384	.	0.106428	0.64402	D	0.000007	T	0.48132	0.1483	.	.	.	0.52099	D	0.999941	B	0.18863	0.031	B	0.25405	0.06	T	0.61317	-0.7087	7	0.62326	D	0.03	.	10.7882	0.46417	0.1156:0.0:0.8844:0.0	.	900	O14841	OPLA_HUMAN	D	900	.	ENSP00000412071:A900D	A	-	2	0	OPLAH	145180272	1.000000	0.71417	0.999000	0.59377	0.867000	0.49689	3.294000	0.51787	2.069000	0.61940	0.448000	0.29417	GCC		0.647	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017570		T	145108284	G	T	145108284	3	4	749	1	0	0	0	0	1	0	0	0	10878	1203	42	4	1201	4	OPLAH	8	145108284	Missense_Mutation	SNP	G	TCGA-KO-8408-01A-11D-2310-10	167906	145108284	1255738	63	43992											
OPLAH	26873	mdanderson.org	37	8	145113241	145113241	+	Missense_Mutation	SNP	T	T	G	rs3935209	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr8:145113241T>G	ENST00000426825.1	-	7	931	c.850A>C	c.(850-852)Agt>Cgt	p.S284R	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	284			S -> R (in dbSNP:rs3935209).		glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGCACAGCACTGGAGCCGCTG	0.687													G|||	1014	0.202476	0.5998	0.0893	5008	,	,		15381	0.003		0.0984	False		,,,				2504	0.0583															0								G	ARG/SER	1818,2076		465,888,594	6	9	8		850	2.9	1	8	dbSNP_108	8	604,7624		25,554,3535	yes	missense	OPLAH	NM_017570.3	110	490,1442,4129	GG,GT,TT		7.3408,46.6872,19.9802	benign	284/1289	145113241	2422,9700	1947	4114	6061	SO:0001583	missense	26873			AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.850A>C	8.37:g.145113241T>G	ENSP00000475943:p.Ser284Arg		A5PKY8|Q75W65|Q9Y4Q0	Missense_Mutation	SNP	ENST00000426825.1	37		421	0.19276556776556777	297	0.6036585365853658	37	0.10220994475138122	13	0.022727272727272728	74	0.09762532981530343	G	11.48	1.649903	0.29336	0.466872	0.073408	ENSG00000178814	ENST00000426825	.	.	.	3.95	2.94	0.34122	.	0.000000	0.85682	N	0.000000	T	0.00012	0.0000	.	.	.	0.19575	N	0.999967	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.44421	-0.9329	7	0.02654	T	1	.	11.4387	0.50083	0.0:0.0:0.6654:0.3346	rs3935209;rs3935209	284;284	A7E261;O14841	.;OPLA_HUMAN	R	284	.	ENSP00000412071:S284R	S	-	1	0	OPLAH	145185229	0.940000	0.31905	0.981000	0.43875	0.538000	0.34931	0.568000	0.23623	0.652000	0.30806	-0.352000	0.07741	AGT		0.687	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017570		G	145113241	T	G	145113241	3	3	749	1	0	0	0	0	1	0	0	0	10878	1580	55	5	3102	5	OPLAH	8	145113241	Missense_Mutation	SNP	T	TCGA-KO-8408-01A-11D-2310-10	4957	145113241	1250781	64	43993											
PRSS3	5646	mdanderson.org	37	9	33796660	33796660	+	Silent	SNP	T	T	C			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr9:33796660T>C	ENST00000361005.5	+	2	231	c.231T>C	c.(229-231)gaT>gaC	p.D77D	RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000429677.3_Silent_p.D13D|PRSS3_ENST00000379405.3_Silent_p.D20D|PRSS3_ENST00000342836.4_Silent_p.D34D	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3	77					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)			CCTTTGACGATGATGACAAGA	0.552																																																0													193	181	185					9																	33796660		2203	4300	6503	SO:0001819	synonymous_variant	5646				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.231T>C	9.37:g.33796660T>C			A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	Silent	SNP	ENST00000361005.5	37	CCDS47958.1																																																																																				0.552	PRSS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052121.1	NM_002771		C	33796660	T	C	33796660	2	2	749	1	0	0	0	0	0	0	0	1	12627	1461	51	3		3	PRSS3	9	33796660	Silent	SNP	T	TCGA-KO-8408-01A-11D-2310-10		33796660	107416771	65	43994											
IL11RA	3590	broad.mit.edu	37	9	34658538	34658538	+	Missense_Mutation	SNP	G	G	T			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr9:34658538G>T	ENST00000555003.1	+	8	2024	c.668G>T	c.(667-669)gGc>gTc	p.G223V	IL11RA_ENST00000602473.1_Missense_Mutation_p.G223V|IL11RA_ENST00000318041.9_Missense_Mutation_p.G223V|IL11RA_ENST00000378817.4_Missense_Mutation_p.G223V|IL11RA_ENST00000441545.2_Missense_Mutation_p.G223V			Q14626	I11RA_HUMAN	interleukin 11 receptor, alpha	223	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				developmental process (GO:0032502)|embryo implantation (GO:0007566)|head development (GO:0060322)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	Oprelvekin(DB00038)	CCACCCCAGGGCCTGCGGGTA	0.602																																																0													62	60	60					9																	34658538		2203	4300	6503	SO:0001583	missense	3590			Z38102	CCDS6567.1	9p13	2014-05-22			ENSG00000137070	ENSG00000137070		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5967	protein-coding gene	gene with protein product		600939				7670098	Standard	NM_001142784		Approved		uc011loq.3	Q14626	OTTHUMG00000019837	ENST00000555003.1:c.668G>T	9.37:g.34658538G>T	ENSP00000450565:p.Gly223Val		Q16542|Q5VZ80|Q7KYJ7	Missense_Mutation	SNP	ENST00000555003.1	37	CCDS6567.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.925777	0.73213	.	.	ENSG00000137070	ENST00000555003;ENST00000441545;ENST00000553620;ENST00000378817;ENST00000318041;ENST00000555981	T;T;T;T;T;T	0.72505	1.46;1.46;0.93;1.29;1.46;-0.66	5.15	4.19	0.49359	Long hematopoietin receptor, soluble alpha chain, conserved site (1);Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.419860	0.27262	N	0.020180	T	0.73814	0.3635	L	0.54323	1.7	0.53688	D	0.999973	D;D	0.63880	0.993;0.993	P;P	0.59288	0.855;0.855	T	0.74876	-0.3515	10	0.62326	D	0.03	-19.9792	6.4922	0.22121	0.096:0.1853:0.7187:0.0	.	223;223	Q5VZ79;Q14626	.;I11RA_HUMAN	V	223;223;146;223;223;223	ENSP00000450565:G223V;ENSP00000394391:G223V;ENSP00000452207:G146V;ENSP00000368094:G223V;ENSP00000326500:G223V;ENSP00000450640:G223V	ENSP00000326500:G223V	G	+	2	0	IL11RA	34648538	0.998000	0.40836	1.000000	0.80357	0.982000	0.71751	2.129000	0.42055	2.401000	0.81631	0.563000	0.77884	GGC		0.602	IL11RA-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410625.1	NM_001142784		T	34658538	G	T	34658538	3	4	749	1	0	0	0	0	1	0	0	0	7625	1203	42	4	694	4	IL11RA	9	34658538	Missense_Mutation	SNP	G	TCGA-KO-8408-01A-11D-2310-10	861878	34658538	106554893	66	43995											
DCAF10	79269	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	9	37861212	37861212	+	Missense_Mutation	SNP	C	C	G			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr9:37861212C>G	ENST00000377724.3	+	7	1752	c.1387C>G	c.(1387-1389)Cat>Gat	p.H463D	RP11-613M10.9_ENST00000540557.1_Intron|DCAF10_ENST00000242323.7_Missense_Mutation_p.H426D|DCAF10_ENST00000483167.1_3'UTR	NM_024345.3	NP_077321.3	Q5QP82	DCA10_HUMAN	DDB1 and CUL4 associated factor 10	463					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	12						ACGACTGACTCATTACATTGA	0.488																																																0													121	112	115					9																	37861212		2203	4300	6503	SO:0001583	missense	79269			BC003520	CCDS6613.2, CCDS75835.1	9p13.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000122741	ENSG00000122741		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	23686	protein-coding gene	gene with protein product			"WD repeat domain 32"	WDR32			Standard	NM_001286810		Approved	MGC10765, FLJ23201	uc004aao.3	Q5QP82	OTTHUMG00000019934	ENST00000377724.3:c.1387C>G	9.37:g.37861212C>G	ENSP00000366953:p.His463Asp		A4VCJ5|Q32NE2|Q8N2Q5|Q96ET5|Q9BTQ5|Q9H5P6	Missense_Mutation	SNP	ENST00000377724.3	37	CCDS6613.2	.	.	.	.	.	.	.	.	.	.	C	23.2	4.392544	0.83011	.	.	ENSG00000122741	ENST00000377724;ENST00000242323	T;T	0.75154	-0.69;-0.91	5.66	5.66	0.87406	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.78805	0.4341	L	0.40543	1.245	0.80722	D	1	D;D	0.61697	0.96;0.99	D;D	0.68483	0.923;0.958	T	0.71437	-0.4593	10	0.08381	T	0.77	.	17.2476	0.87032	0.0:1.0:0.0:0.0	.	426;463	Q5QP82-2;Q5QP82	.;DCA10_HUMAN	D	463;426	ENSP00000366953:H463D;ENSP00000242323:H426D	ENSP00000242323:H426D	H	+	1	0	DCAF10	37851212	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.440000	0.80464	2.690000	0.91761	0.655000	0.94253	CAT		0.488	DCAF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052485.2	NM_024345		G	37861212	C	G	37861212	3	3	749	1	0	0	0	0	1	0	0	0	4263	826	29	4	1413	4	DCAF10	9	37861212	Missense_Mutation	SNP	C	TCGA-KO-8408-01A-11D-2310-10	3202674	37861212	103352219	67	43996											
TUBB8	347688	mdanderson.org	37	10	94005	94005	+	Silent	SNP	G	G	A	rs374716232		TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr10:94005G>A	ENST00000309812.4	-	4	389	c.327C>T	c.(325-327)ggC>ggT	p.G109G	TUBB8_ENST00000447903.2_Silent_p.G37G|TUBB8_ENST00000413237.3_5'UTR|TUBB8_ENST00000332708.5_Missense_Mutation_p.A73V	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	109					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)		TCAGCTCCGCGCCTTCGGTGT	0.602																																					Pancreas(192;2041 3010 9013 18103)											0													72	61	65					10																	94005		2203	4300	6503	SO:0001819	synonymous_variant	347688			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.327C>T	10.37:g.94005G>A			Q5SQX9|Q8WZ78	Silent	SNP	ENST00000309812.4	37	CCDS7051.1	.	.	.	.	.	.	.	.	.	.	G	6.147	0.395295	0.11638	.	.	ENSG00000173876	ENST00000309812;ENST00000332708	.	.	.	.	.	.	.	.	.	.	.	T	0.56016	0.1957	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54754	-0.8246	4	0.87932	D	0	.	2.8768	0.05634	3.0E-4:2.0E-4:0.5045:0.4949	.	.	.	.	V	117;73	.	ENSP00000311042:A117V	A	-	2	0	RP11-631M21.2	84005	0.000000	0.05858	0.286000	0.24833	0.290000	0.27261	-5.243000	0.00138	0.119000	0.18210	0.121000	0.15741	GCG		0.602	TUBB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467795.1	NM_177987		A	94005	G	A	94005	2	1	749	1	0	0	0	0	0	0	0	1	16766	1074	38	1		1	TUBB8	10	94005	Silent	SNP	G	TCGA-KO-8408-01A-11D-2310-10		94005	135440742	68	43997			2	114		2	2	14	N	T_G	6.21494e-05
TUBB8	347688	mdanderson.org	37	10	94018	94018	+	Missense_Mutation	SNP	T	T	C	rs9329307	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr10:94018T>C	ENST00000309812.4	-	4	376	c.314A>G	c.(313-315)cAc>cGc	p.H105R	TUBB8_ENST00000447903.2_Missense_Mutation_p.H33R|TUBB8_ENST00000413237.3_5'UTR|TUBB8_ENST00000332708.5_Missense_Mutation_p.T69A	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	105					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.H105R(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)		TTCGGTGTAGTGTCCCTTGGC	0.587																																					Pancreas(192;2041 3010 9013 18103)											1	Substitution - Missense(1)	prostate(1)											77	64	68					10																	94018		2203	4300	6503	SO:0001583	missense	347688			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.314A>G	10.37:g.94018T>C	ENSP00000311042:p.His105Arg		Q5SQX9|Q8WZ78	Missense_Mutation	SNP	ENST00000309812.4	37	CCDS7051.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.13|11.13	1.548903|1.548903	0.27652|0.27652	.|.	.|.	ENSG00000173876|ENSG00000173876	ENST00000447903;ENST00000272035;ENST00000440680;ENST00000328974|ENST00000309812;ENST00000332708	T|.	0.69435|.	-0.4|.	.|.	.|.	.|.	Tubulin/FtsZ, GTPase domain (4);|.	0.000000|.	0.64402|.	U|.	0.000004|.	T|T	0.52108|0.52108	0.1714|0.1714	.|.	.|.	.|.	0.34522|0.34522	D|D	0.708225|0.708225	P;P|.	0.49635|.	0.65;0.926|.	P;P|.	0.47102|.	0.537;0.52|.	T|T	0.60439|0.60439	-0.7263|-0.7263	8|4	0.87932|0.87932	D|D	0|0	.|.	4.5487|4.5487	0.12098|0.12098	0.0:6.0E-4:0.0:0.9994|0.0:6.0E-4:0.0:0.9994	rs9329307|rs9329307	68;105|.	C9JAA5;Q3ZCM7|.	.;TBB8_HUMAN|.	R|A	33;71;68;105|113;69	ENSP00000403895:H33R|.	ENSP00000272035:H71R|ENSP00000311042:T113A	H|T	-|-	2|1	0|0	RP11-631M21.2|RP11-631M21.2	84018|84018	1.000000|1.000000	0.71417|0.71417	0.316000|0.316000	0.25252|0.25252	0.320000|0.320000	0.28249|0.28249	5.418000|5.418000	0.66429|0.66429	0.103000|0.103000	0.17682|0.17682	0.102000|0.102000	0.15555|0.15555	CAC|ACT		0.587	TUBB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467795.1	NM_177987		C	94018	T	C	94018	3	2	749	1	0	0	0	0	1	0	0	0	16766	1696	59	3	1024	3	TUBB8	10	94018	Missense_Mutation	SNP	T	TCGA-KO-8408-01A-11D-2310-10	13	94018	135440729	69	43998			2	114		2	2	14	N	T_G	6.21494e-05
GPRIN2	9721	mdanderson.org	37	10	47000239	47000239	+	Silent	SNP	C	C	T	rs7912299	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr10:47000239C>T	ENST00000374317.1	+	3	1632	c.1359C>T	c.(1357-1359)tcC>tcT	p.S453S	GPRIN2_ENST00000374314.4_Silent_p.S453S	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	453										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						GCGGCTGCTCCGGCGCGGCCC	0.746													C|||	2586	0.516374	0.5227	0.5159	5008	,	,		29285	0.5099		0.5159	False		,,,				2504	0.5153															0																																										SO:0001819	synonymous_variant	9721			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.1359C>T	10.37:g.47000239C>T			Q5SVF0	Silent	SNP	ENST00000374317.1	37	CCDS31192.1																																																																																				0.746	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	NM_014696		T	47000239	C	T	47000239	2	4	749	1	0	0	0	0	0	0	0	1	6732	639	23	1		1	GPRIN2	10	47000239	Silent	SNP	C	TCGA-KO-8408-01A-11D-2310-10	46906221	47000239	88534508	70	43999											
ARID5B	84159	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	10	63700094	63700094	+	Silent	SNP	G	G	A			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr10:63700094G>A	ENST00000279873.7	+	3	839	c.429G>A	c.(427-429)ctG>ctA	p.L143L		NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	143					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)					AGGAAGCTCTGCTGAAGTACA	0.458																																																0													106	99	101					10																	63700094		2203	4300	6503	SO:0001819	synonymous_variant	84159			M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"-"	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.429G>A	10.37:g.63700094G>A			B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Silent	SNP	ENST00000279873.7	37	CCDS31208.1																																																																																				0.458	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	XM_084482		A	63700094	G	A	63700094	2	1	749	1	0	0	0	0	0	0	0	1	922	1306	46	2		2	ARID5B	10	63700094	Silent	SNP	G	TCGA-KO-8408-01A-11D-2310-10	16699855	63700094	71834653	71	44000											
PTEN	5728	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	10	89693003	89693003	+	Nonsense_Mutation	SNP	A	A	T			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr10:89693003A>T	ENST00000371953.3	+	5	1844	c.487A>T	c.(487-489)Aaa>Taa	p.K163*		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	163	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.?(5)|p.R55fs*1(5)|p.K163*(2)|p.Y27fs*1(2)|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)		GACCAGAGACAAAAAGGTAAG	0.348		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	phosphatase and tensin homolog gene		"L, E, M, O"	52	Whole gene deletion(37)|Deletion - Frameshift(8)|Unknown(5)|Substitution - Nonsense(2)	prostate(17)|central_nervous_system(11)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|breast(3)|ovary(3)|soft_tissue(1)|endometrium(1)|urinary_tract(1)											49	51	50					10																	89693003		2203	4300	6503	SO:0001587	stop_gained	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.487A>T	10.37:g.89693003A>T	ENSP00000361021:p.Lys163*		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	ENST00000371953.3	37	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	A	48	14.499243	0.99798	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.3599	14.8682	0.70434	1.0:0.0:0.0:0.0	.	.	.	.	X	163	.	.	K	+	1	0	PTEN	89682983	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.918000	0.92759	1.898000	0.54952	0.460000	0.39030	AAA		0.348	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		T	89693003	A	T	89693003	4	4	749	1	0	0	0	0	0	1	0	0	12743	131	5	5	505	5	PTEN	10	89693003	Nonsense_Mutation	SNP	A	TCGA-KO-8408-01A-11D-2310-10	25992909	89693003	45841744	72	44001											
C10orf12	26148	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	10	98743653	98743653	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr10:98743653A>G	ENST00000286067.2	+	1	2613	c.2506A>G	c.(2506-2508)Aaa>Gaa	p.K836E		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	836										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		AGATAAACTGAAAGAGATTTG	0.413																																																0													71	68	69					10																	98743653		2203	4300	6503	SO:0001583	missense	26148			BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.2506A>G	10.37:g.98743653A>G	ENSP00000286067:p.Lys836Glu		Q9H945|Q9Y457	Missense_Mutation	SNP	ENST00000286067.2	37	CCDS7452.1	.	.	.	.	.	.	.	.	.	.	A	14.66	2.601386	0.46423	.	.	ENSG00000155640	ENST00000286067;ENST00000539886	T	0.08720	3.06	5.95	5.95	0.96441	.	0.000000	0.52532	D	0.000074	T	0.24005	0.0581	L	0.45581	1.43	0.40968	D	0.984676	D	0.89917	1.0	D	0.79784	0.993	T	0.00385	-1.1773	10	0.66056	D	0.02	-14.5334	16.4216	0.83760	1.0:0.0:0.0:0.0	.	836	Q8N655	CJ012_HUMAN	E	836;670	ENSP00000286067:K836E	ENSP00000286067:K836E	K	+	1	0	C10orf12	98733643	1.000000	0.71417	1.000000	0.80357	0.431000	0.31685	6.944000	0.75940	2.285000	0.76669	0.533000	0.62120	AAA		0.413	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1	NM_015652		G	98743653	A	G	98743653	3	3	749	1	0	0	0	0	1	0	0	0	1591	247	9	3	2508	3	C10orf12	10	98743653	Missense_Mutation	SNP	A	TCGA-KO-8408-01A-11D-2310-10	9050650	98743653	36791094	73	44002											
AP2A2	161	broad.mit.edu	37	11	970195	970195	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr11:970195delA	ENST00000448903.2	+	3	304	c.163delA	c.(163-165)aaafs	p.K57fs	AP2A2_ENST00000332231.5_Frame_Shift_Del_p.K57fs|AP2A2_ENST00000534328.1_Frame_Shift_Del_p.K57fs	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	57	Lipid-binding.				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)	p.K57fs*24(1)		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)		TGGCTATAGTAAAAAAAAGTA	0.488																																																1	Deletion - Frameshift(1)	large_intestine(1)											132	134	134					11																	970195		1937	4154	6091	SO:0001589	frameshift_variant	161			AB020706	CCDS44512.1, CCDS73234.1	11p15.5	2008-07-18			ENSG00000183020	ENSG00000183020			562	protein-coding gene	gene with protein product	"alpha-adaptin C; Huntingtin interacting protein J", "adaptin, alpha B", "clathrin-associated/assembly/adaptor protein, large, alpha 2"	607242		CLAPA2, ADTAB		9700202, 2564002	Standard	NM_012305		Approved	DKFZP564D1864, HYPJ, KIAA0899, HIP9	uc001lst.2	O94973	OTTHUMG00000165627	ENST00000448903.2:c.163delA	11.37:g.970195delA	ENSP00000413234:p.Lys57fs		O75403|Q53ET1|Q96SI8	Frame_Shift_Del	DEL	ENST00000448903.2	37	CCDS44512.1																																																																																				0.488	AP2A2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385431.2	NM_012305		-	970195	A	-	970195	7	5	749	1	0	1	0	1	0	0	0	0	740	363	13	0	173	0	AP2A2	11	970195	Frame_Shift_Del	DEL	A	TCGA-KO-8408-01A-11D-2310-10		970195	134036321	74	44003											
MUC2	4583	hgsc.bcm.edu	37	11	1092954	1092954	+	Splice_Site	SNP	G	G	A	rs56352686		TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr11:1092954G>A	ENST00000359061.5	+	30	4776	c.4776G>A	c.(4774-4776)acG>acA	p.T1592T	MUC2_ENST00000441003.2_Silent_p.T1591T|MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_5'Flank			Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				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)	ccaccactacggtgaccccaa	0.627																																																0													52	85	74					11																	1092954		1812	3296	5108	SO:0001630	splice_region_variant	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000359061.5:c.4776+1G>A	11.37:g.1092954G>A			Q14878	Silent	SNP	ENST00000359061.5	37																																																																																					0.627	MUC2-202	KNOWN	basic	protein_coding	protein_coding		NM_002457	Silent	A	1092954	G	A	1092954	5	1	749	1	0	0	0	0	0	0	1	0	9977	1103	39	1	4891	1	MUC2	11	1092954	Splice_Site	SNP	G	TCGA-KO-8408-01A-11D-2310-10	122759	1092954	133913562	75	44004											
NUP98	4928	broad.mit.edu	37	11	3793077	3793078	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr11:3793077_3793078insA	ENST00000324932.7	-	7	1104_1105	c.684_685insT	c.(682-687)tttgggfs	p.G229fs	NUP98_ENST00000397004.4_Frame_Shift_Ins_p.G229fs|NUP98_ENST00000397007.4_Frame_Shift_Ins_p.G229fs|NUP98_ENST00000355260.3_Frame_Shift_Ins_p.G229fs|NUP98_ENST00000359171.4_Frame_Shift_Ins_p.G229fs	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	229	FG repeats 2.|Gly/Thr-rich.				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)		GGAGAAGACCCAAACAAGCCAG	0.5			T	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"	AML																																		Dom	yes		11	11p15	4928	nucleoporin 98kDa		L	0																																										SO:0001589	frameshift_variant	4928			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.685dupT	11.37:g.3793080_3793080dupA	ENSP00000316032:p.Gly229fs		Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Frame_Shift_Ins	INS	ENST00000324932.7	37	CCDS7746.1																																																																																				0.5	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320		A	3793078	-	A	3793077	7	5	749	1	0	1	1	0	0	0	0	0	10775	594	21	0	4897	0	NUP98	11	3793077	Frame_Shift_Ins	INS	-	TCGA-KO-8408-01A-11D-2310-10	2700123	3793077	131213439	76	44005											
SMPD1	322	broad.mit.edu;mdanderson.org;bcgsc.ca	37	11	6415260	6415260	+	IGR	SNP	G	G	C			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr11:6415260G>C	ENST00000609360.1	-	0	2642				APBB1_ENST00000526240.1_5'Flank|SMPD1_ENST00000342245.4_Missense_Mutation_p.G492A|SMPD1_ENST00000356761.2_Missense_Mutation_p.G436A|SMPD1_ENST00000527275.1_Missense_Mutation_p.G491A|SMPD1_ENST00000299397.3_Missense_Mutation_p.G448A	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)						apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		ACCTACATCGGCCTTAATCCT	0.557																																					GBM(147;1810 2556 5672 39622)											0													51	52	52					11																	6415260		2201	4296	6497	SO:0001628	intergenic_variant	6609			L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213			11.37:g.6415260G>C			A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Missense_Mutation	SNP	ENST00000609360.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.40|11.40	1.626864|1.626864	0.28978|0.28978	.|.	.|.	ENSG00000166311|ENSG00000166311	ENST00000526280|ENST00000299397;ENST00000356761;ENST00000342245;ENST00000527275	.|D;D;D;D	.|0.85484	.|-1.99;-1.99;-1.99;-1.99	4.74|4.74	1.58|1.58	0.23477|0.23477	.|.	.|0.866705	.|0.10215	.|N	.|0.701671	T|T	0.78059|0.78059	0.4224|0.4224	L|L	0.46157|0.46157	1.445|1.445	0.09310|0.09310	N|N	0.999999|0.999999	.|B;B;B	.|0.16396	.|0.008;0.017;0.003	.|B;B;B	.|0.15052	.|0.006;0.012;0.005	T|T	0.64803|0.64803	-0.6321|-0.6321	5|10	.|0.41790	.|T	.|0.15	-36.4075|-36.4075	5.4497|5.4497	0.16556|0.16556	0.5195:0.0:0.4805:0.0|0.5195:0.0:0.4805:0.0	.|.	.|491;448;490	.|E9PKS3;G3XAB5;P17405	.|.;.;ASM_HUMAN	P|A	178|448;436;492;491	.|ENSP00000299397:G448A;ENSP00000349203:G436A;ENSP00000340409:G492A;ENSP00000435350:G491A	.|ENSP00000299397:G448A	A|G	+|+	1|2	0|0	SMPD1|SMPD1	6371836|6371836	0.995000|0.995000	0.38212|0.38212	0.327000|0.327000	0.25402|0.25402	0.958000|0.958000	0.62258|0.62258	3.263000|3.263000	0.51546|0.51546	0.601000|0.601000	0.29879|0.29879	-0.291000|-0.291000	0.09656|0.09656	GCC|GGC		0.557	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	NM_001164		C	6415260	G	C	6415260	1	2	749	0	1	0	0	0	0	0	0	0	14810	1203	42	4		4	SMPD1	11	6415260	IGR	SNP	G	TCGA-KO-8408-01A-11D-2310-10	2622183	6415260	128591256	77	44006											
INSC	387755	broad.mit.edu	37	11	15267583	15267583	+	Silent	SNP	G	G	T			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr11:15267583G>T	ENST00000379554.3	+	13	1783	c.1737G>T	c.(1735-1737)gtG>gtT	p.V579V	INSC_ENST00000530161.1_Silent_p.V532V|INSC_ENST00000424273.1_Silent_p.V490V|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000528567.1_3'UTR|INSC_ENST00000379556.3_Silent_p.V532V|INSC_ENST00000525218.1_Silent_p.V490V	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	579					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						AGAGTTTTGTGTAGTGAGTGT	0.517																																																0													128	127	127					11																	15267583		1991	4169	6160	SO:0001819	synonymous_variant	387755			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.1737G>T	11.37:g.15267583G>T			A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Silent	SNP	ENST00000379554.3	37	CCDS41621.1																																																																																				0.517	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386590.1	NM_001031853		T	15267583	G	T	15267583	2	4	749	1	0	0	0	0	0	0	0	1	7766	1364	48	4		4	INSC	11	15267583	Silent	SNP	G	TCGA-KO-8408-01A-11D-2310-10	8852323	15267583	119738933	78	44007											
CD5	921	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	11	60886402	60886402	+	Missense_Mutation	SNP	C	C	G			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr11:60886402C>G	ENST00000347785.3	+	4	582	c.416C>G	c.(415-417)aCa>aGa	p.T139R		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	139					apoptotic signaling pathway (GO:0097190)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		CAGAAGACAACACCTCCAACG	0.597																																																0													129	112	118					11																	60886402		2202	4299	6501	SO:0001583	missense	921			X04391	CCDS8000.1	11q13	2008-07-18	2006-03-28		ENSG00000110448	ENSG00000110448		"CD molecules"	1685	protein-coding gene	gene with protein product		153340	"CD5 antigen (p56-62)"	LEU1		1711157	Standard	NM_014207		Approved	T1	uc009ynk.3	P06127	OTTHUMG00000167825	ENST00000347785.3:c.416C>G	11.37:g.60886402C>G	ENSP00000342681:p.Thr139Arg		A0N0P4|A8K9I3	Missense_Mutation	SNP	ENST00000347785.3	37	CCDS8000.1	.	.	.	.	.	.	.	.	.	.	C	8.539	0.872797	0.17322	.	.	ENSG00000110448	ENST00000347785;ENST00000544014	T;T	0.28666	1.6;1.6	4.43	3.51	0.40186	Speract/scavenger receptor-related (1);	0.670897	0.13065	N	0.416574	T	0.31702	0.0805	M	0.68317	2.08	0.09310	N	1	B	0.23316	0.083	B	0.15870	0.014	T	0.17653	-1.0362	10	0.42905	T	0.14	-0.064	10.4904	0.44748	0.0:0.8029:0.1971:0.0	.	139	P06127	CD5_HUMAN	R	139	ENSP00000342681:T139R;ENSP00000440899:T139R	ENSP00000342681:T139R	T	+	2	0	CD5	60642978	0.000000	0.05858	0.006000	0.13384	0.018000	0.09664	0.428000	0.21395	1.198000	0.43158	-0.233000	0.12211	ACA		0.597	CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396465.2	NM_014207		G	60886402	C	G	60886402	3	3	749	1	0	0	0	0	1	0	0	0	3023	478	17	4	430	4	CD5	11	60886402	Missense_Mutation	SNP	C	TCGA-KO-8408-01A-11D-2310-10	45618819	60886402	74120114	79	44008											
C11orf9	745	broad.mit.edu	37	11	61544745	61544745	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr11:61544745C>T	ENST00000278836.5	+	12	1696	c.1600C>T	c.(1600-1602)Cca>Tca	p.P534S	MYRF_ENST00000327797.1_Missense_Mutation_p.P159S|MYRF_ENST00000265460.5_Missense_Mutation_p.P525S|TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000389602.4_5'Flank	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	534					central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GGCCTCCAACCCAGGCCAGTT	0.677																																																0													47	45	45					11																	61544745		2202	4298	6500	SO:0001583	missense	745				CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"myelin gene regulatory factor"	608329	"chromosome 11 open reading frame 9"	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.1600C>T	11.37:g.61544745C>T	ENSP00000278836:p.Pro534Ser		O43582|Q9P1Q6	Missense_Mutation	SNP	ENST00000278836.5	37	CCDS44622.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.606695	0.87157	.	.	ENSG00000124920	ENST00000278836;ENST00000265460;ENST00000327797	D;D;T	0.89270	-2.49;-2.45;-0.96	3.83	3.83	0.44106	NDT80 DNA-binding domain (3);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.95629	0.8579	M	0.92738	3.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.992	D	0.97004	0.9731	10	0.87932	D	0	-9.9032	16.617	0.84918	0.0:1.0:0.0:0.0	.	525;534	Q9Y2G1-2;Q9Y2G1	.;MRF_HUMAN	S	534;525;159	ENSP00000278836:P534S;ENSP00000265460:P525S;ENSP00000333261:P159S	ENSP00000265460:P525S	P	+	1	0	C11orf9	61301321	1.000000	0.71417	0.997000	0.53966	0.949000	0.60115	7.410000	0.80065	2.081000	0.62600	0.313000	0.20887	CCA		0.677	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398519.2	NM_013279		T	61544745	C	T	61544745	3	4	749	1	0	0	0	0	1	0	0	0	1673	623	22	2	1669	2	C11orf9	11	61544745	Missense_Mutation	SNP	C	TCGA-KO-8408-01A-11D-2310-10	658343	61544745	73461771	80	44009											
YAP1	10413	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	11	102098274	102098274	+	Missense_Mutation	SNP	C	C	A			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr11:102098274C>A	ENST00000282441.5	+	8	1626	c.1238C>A	c.(1237-1239)cCa>cAa	p.P413Q	YAP1_ENST00000345877.2_Missense_Mutation_p.P363Q|YAP1_ENST00000528834.1_3'UTR|YAP1_ENST00000537274.1_Missense_Mutation_p.P401Q|YAP1_ENST00000526343.1_Missense_Mutation_p.P359Q|RP11-864G5.3_ENST00000526310.1_RNA|YAP1_ENST00000524575.1_Missense_Mutation_p.P235Q|YAP1_ENST00000531439.1_Missense_Mutation_p.P397Q	NM_001130145.2|NM_001282101.1	NP_001123617.1|NP_001269030.1	P46937	YAP1_HUMAN	Yes-associated protein 1	413	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)		CCTCGAACCCCAGATGACTTC	0.448																																					Colon(50;247 1103 7861 28956)											0													190	139	157					11																	102098274		2203	4299	6502	SO:0001583	missense	10413				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.1238C>A	11.37:g.102098274C>A	ENSP00000282441:p.Pro413Gln		B4DTY1|B7ZA01|E3WEB5|E3WEB6|E9PRV2|F5H202|K0KQ18|K0KYZ8|K0L195|K0L1G3|Q7Z574|Q8IUY9	Missense_Mutation	SNP	ENST00000282441.5	37	CCDS44716.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.8|20.8	4.054360|4.054360	0.75960|0.75960	.|.	.|.	ENSG00000137693|ENSG00000137693	ENST00000526343;ENST00000282441;ENST00000537274;ENST00000345877;ENST00000445250;ENST00000531439;ENST00000524575|ENST00000529029	T;T;T|.	0.66638|.	-0.19;-0.22;-0.05|.	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76083|0.76083	0.3938|0.3938	M|M	0.72894|0.72894	2.215|2.215	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	0.998;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D|.	0.91635|.	0.991;0.999;0.997;0.994;0.998;0.999|.	T|T	0.75519|0.75519	-0.3289|-0.3289	10|5	0.87932|.	D|.	0|.	.|.	18.9673|18.9673	0.92701|0.92701	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	235;330;359;397;413;363|.	B4DTY1;F5GWC5;E9PRV2;P46937-2;P46937;P46937-3|.	.;.;.;.;YAP1_HUMAN;.|.	Q|K	359;413;401;363;330;397;235|167	ENSP00000434134:P359Q;ENSP00000331023:P363Q;ENSP00000435602:P235Q|.	ENSP00000282441:P413Q|.	P|Q	+|+	2|1	0|0	YAP1|YAP1	101603484|101603484	1.000000|1.000000	0.71417|0.71417	0.839000|0.839000	0.33178|0.33178	0.456000|0.456000	0.32438|0.32438	7.461000|7.461000	0.80834|0.80834	2.492000|2.492000	0.84095|0.84095	0.650000|0.650000	0.86243|0.86243	CCA|CAG		0.448	YAP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394151.1	NM_006106		A	102098274	C	A	102098274	3	1	749	1	0	0	0	0	1	0	0	0	17471	594	21	4	1280	4	YAP1	11	102098274	Missense_Mutation	SNP	C	TCGA-KO-8408-01A-11D-2310-10	40553529	102098274	32908242	81	44010											
DDI1	414301	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	11	103908145	103908145	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr11:103908145C>T	ENST00000302259.3	+	1	838	c.595C>T	c.(595-597)Cgt>Tgt	p.R199C	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)	199							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)		AGAGAGGCTTCGTCTCTACAC	0.512																																																0													63	70	67					11																	103908145		2202	4299	6501	SO:0001583	missense	414301				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.595C>T	11.37:g.103908145C>T	ENSP00000302805:p.Arg199Cys		Q7Z4U6|Q8WTS3	Missense_Mutation	SNP	ENST00000302259.3	37	CCDS31660.1	.	.	.	.	.	.	.	.	.	.	C	10.61	1.399903	0.25291	.	.	ENSG00000170967	ENST00000302259	T	0.26373	1.74	5.02	4.11	0.48088	.	0.178859	0.47455	N	0.000226	T	0.50154	0.1599	M	0.84326	2.69	0.09310	N	0.999997	D	0.89917	1.0	D	0.65874	0.939	T	0.46414	-0.9193	10	0.66056	D	0.02	-26.6368	11.8166	0.52214	0.0:0.9145:0.0:0.0855	.	199	Q8WTU0	DDI1_HUMAN	C	199	ENSP00000302805:R199C	ENSP00000302805:R199C	R	+	1	0	DDI1	103413355	0.845000	0.29573	0.014000	0.15608	0.012000	0.07955	2.207000	0.42788	1.502000	0.48669	-0.126000	0.14955	CGT		0.512	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387326.1	NM_001001711		T	103908145	C	T	103908145	3	4	749	1	0	0	0	0	1	0	0	0	4330	884	31	1	597	1	DDI1	11	103908145	Missense_Mutation	SNP	C	TCGA-KO-8408-01A-11D-2310-10	1809871	103908145	31098371	82	44011											
SLC35F2	54733	broad.mit.edu	37	11	107676203	107676204	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr11:107676203_107676204insA	ENST00000525815.1	-	5	1032_1033	c.612_613insT	c.(610-615)cttgggfs	p.G205fs	SLC35F2_ENST00000375682.4_Frame_Shift_Ins_p.G158fs|SLC35F2_ENST00000525071.1_Frame_Shift_Ins_p.G205fs|SLC35F2_ENST00000265836.7_Frame_Shift_Ins_p.G57fs|SLC35F2_ENST00000429869.1_Frame_Shift_Ins_p.G205fs	NM_017515.4	NP_059985.2	Q8IXU6	S35F2_HUMAN	solute carrier family 35, member F2	205					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)		AGGGAAGCCCCAAGAAGGACCA	0.465																																																0																																										SO:0001589	frameshift_variant	54733				CCDS41709.1	11q22.3	2013-05-22			ENSG00000110660	ENSG00000110660		"Solute carriers"	23615	protein-coding gene	gene with protein product						9119394	Standard	NM_017515		Approved	FLJ13018	uc001pjq.3	Q8IXU6	OTTHUMG00000166366	ENST00000525815.1:c.613dupT	11.37:g.107676205_107676205dupA	ENSP00000436785:p.Gly205fs		Q14963|Q5JPA8|Q6ZRQ3|Q9H947	Frame_Shift_Ins	INS	ENST00000525815.1	37	CCDS41709.1																																																																																				0.465	SLC35F2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389417.1	NM_017515		A	107676204	-	A	107676203	7	5	749	1	0	1	1	0	0	0	0	0	14595	594	21	0	527	0	SLC35F2	11	107676203	Frame_Shift_Ins	INS	-	TCGA-KO-8408-01A-11D-2310-10	3768058	107676203	27330313	83	44012											
EXPH5	23086	broad.mit.edu	37	11	108381019	108381020	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr11:108381019_108381020insG	ENST00000265843.4	-	6	5324_5325	c.5214_5215insC	c.(5212-5217)accagcfs	p.S1739fs	EXPH5_ENST00000443411.1_Frame_Shift_Ins_p.S1551fs|EXPH5_ENST00000428840.1_Frame_Shift_Ins_p.S1663fs|EXPH5_ENST00000525344.1_Frame_Shift_Ins_p.S1732fs	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1739					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)		TCCCTGAGGCTGGTGAATGTGA	0.49																																																0																																										SO:0001589	frameshift_variant	23086				CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"synaptotagmin-like homologue lacking C2 domains b"	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.5215dupC	11.37:g.108381021_108381021dupG	ENSP00000265843:p.Ser1739fs		Q2KHM1|Q9Y4D6	Frame_Shift_Ins	INS	ENST00000265843.4	37	CCDS8341.1																																																																																				0.49	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		G	108381020	-	G	108381019	7	5	749	1	0	1	1	0	0	0	0	0	5324	1580	55	0	758	0	EXPH5	11	108381019	Frame_Shift_Ins	INS	-	TCGA-KO-8408-01A-11D-2310-10	704816	108381019	26625497	84	44013											
POU2F3	25833	broad.mit.edu	37	11	120173026	120173026	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr11:120173026delG	ENST00000543440.2	+	6	543	c.393delG	c.(391-393)cagfs	p.Q133fs	POU2F3_ENST00000260264.4_Frame_Shift_Del_p.Q135fs	NM_014352.3	NP_055167.2	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	133					epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)|negative regulation by host of viral transcription (GO:0043922)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|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)|sequence-specific DNA binding (GO:0043565)			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		CCTTTCCACAGCAACAAAGCG	0.512											OREG0021420	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													153	129	137					11																	120173026		2203	4300	6503	SO:0001589	frameshift_variant	25833			AF133895	CCDS8431.1, CCDS58190.1	11q23.3	2011-06-20	2007-07-13		ENSG00000137709	ENSG00000137709		"Homeoboxes / POU class"	19864	protein-coding gene	gene with protein product		607394	"POU domain class 2, transcription factor 3"			10473598	Standard	NM_014352		Approved	OCT11, PLA-1, Skn-1a, Epoc-1	uc021qrk.1	Q9UKI9	OTTHUMG00000166140	ENST00000543440.2:c.393delG	11.37:g.120173026delG	ENSP00000441687:p.Gln133fs	1501	A8K7H8|B4DY07|F5GWW6|Q3MIY3|Q9UKR7|Q9Y504	Frame_Shift_Del	DEL	ENST00000543440.2	37	CCDS8431.1																																																																																				0.512	POU2F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388039.2			-	120173026	G	-	120173026	7	5	749	1	0	1	0	1	0	0	0	0	12275	962	34	0	415	0	POU2F3	11	120173026	Frame_Shift_Del	DEL	G	TCGA-KO-8408-01A-11D-2310-10	11792007	120173026	14833490	85	44014											
ST14	6768	broad.mit.edu	37	11	130079400	130079401	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr11:130079400_130079401insC	ENST00000278742.5	+	18	2751_2752	c.2333_2334insC	c.(2332-2337)aacctcfs	p.L779fs		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	779	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)	ACCTGCGAGAACCTCCTGCCGC	0.698																																																0																																										SO:0001589	frameshift_variant	6768			AF118224	CCDS8487.1	11q24-q25	2011-08-31	2005-11-19		ENSG00000149418	ENSG00000149418		"Serine peptidases / Transmembrane"	11344	protein-coding gene	gene with protein product	"epithin", "matriptase"	606797		PRSS14		9925927, 10373424	Standard	NM_021978		Approved	SNC19, HAI, MT-SP1, TMPRSS14	uc001qfw.3	Q9Y5Y6	OTTHUMG00000165768	ENST00000278742.5:c.2335dupC	11.37:g.130079402_130079402dupC	ENSP00000278742:p.Leu779fs		Q9BS01|Q9H3S0|Q9HB36|Q9HCA3	Frame_Shift_Ins	INS	ENST00000278742.5	37	CCDS8487.1																																																																																				0.698	ST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386119.1			C	130079401	-	C	130079400	7	5	749	1	0	1	1	0	0	0	0	0	15216	43	2	0	2403	0	ST14	11	130079400	Frame_Shift_Ins	INS	-	TCGA-KO-8408-01A-11D-2310-10	9906374	130079400	4927116	86	44015											
LST-3TM12	338821	broad.mit.edu;mdanderson.org	37	12	21242950	21242950	+	Silent	SNP	A	A	G			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr12:21242950A>G	ENST00000421593.2	+	13	1833	c.1833A>G	c.(1831-1833)gtA>gtG	p.V611V	RP11-125O5.2_ENST00000590779.1_Intron|SLCO1B7_ENST00000554957.1_Silent_p.V658V|LST3_ENST00000381541.3_Silent_p.V658V|SLCO1B3_ENST00000553473.1_Silent_p.V719V|LST3_ENST00000540229.1_Silent_p.V719V	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	611						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						ATACCAAAGTATTAGAAAATG	0.328																																																0													49	52	51					12																	21242950		2038	4228	6266	SO:0001819	synonymous_variant	338821			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.1833A>G	12.37:g.21242950A>G			Q71QF0	Silent	SNP	ENST00000421593.2	37	CCDS44843.1																																																																																				0.328	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1	NM_001009562		G	21242950	A	G	21242950	2	3	749	1	0	0	0	0	0	0	0	1	9068	436	16	3		3	LST-3TM12	12	21242950	Silent	SNP	A	TCGA-KO-8408-01A-11D-2310-10		21242950	112608945	87	44016											
E2F7	144455	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	12	77419483	77419483	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr12:77419483G>A	ENST00000322886.7	-	12	2655	c.2420C>T	c.(2419-2421)tCc>tTc	p.S807F	E2F7_ENST00000416496.2_Intron	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	807					chorionic trophoblast cell differentiation (GO:0060718)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hepatocyte differentiation (GO:0070365)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokinesis (GO:0032466)|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 involved in G1/S transition of mitotic cell cycle (GO:0071930)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|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)			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						AGGGAGTGTGGACGACTTTGG	0.537																																																0													148	132	137					12																	77419483		2203	4300	6503	SO:0001583	missense	144455			BC016658	CCDS9016.1	12q21.1	2008-02-05				ENSG00000165891			23820	protein-coding gene	gene with protein product		612046				12893818	Standard	NM_203394		Approved		uc001sym.4	Q96AV8	OTTHUMG00000169969	ENST00000322886.7:c.2420C>T	12.37:g.77419483G>A	ENSP00000323246:p.Ser807Phe		A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Missense_Mutation	SNP	ENST00000322886.7	37	CCDS9016.1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.145117	0.37825	.	.	ENSG00000165891	ENST00000322886;ENST00000339887	T	0.22336	1.96	5.91	5.03	0.67393	.	0.134260	0.51477	D	0.000082	T	0.15912	0.0383	N	0.19112	0.55	0.47511	D	0.999448	P	0.44627	0.839	B	0.41723	0.365	T	0.02676	-1.1125	10	0.62326	D	0.03	-5.9471	12.4126	0.55476	0.0769:0.0:0.9231:0.0	.	807	Q96AV8	E2F7_HUMAN	F	807;278	ENSP00000323246:S807F	ENSP00000323246:S807F	S	-	2	0	E2F7	75943614	0.950000	0.32346	0.031000	0.17742	0.913000	0.54294	4.727000	0.61993	1.524000	0.49035	0.650000	0.86243	TCC		0.537	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406716.1	XM_084871		A	77419483	G	A	77419483	3	1	749	1	0	0	0	0	1	0	0	0	4874	1174	41	2	323	2	E2F7	12	77419483	Missense_Mutation	SNP	G	TCGA-KO-8408-01A-11D-2310-10	56176533	77419483	56432412	88	44017											
MYBPC1	4604	mdanderson.org;bcgsc.ca	37	12	102043096	102043096	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr12:102043096G>T	ENST00000550270.1	+	13	1180	c.1180G>T	c.(1180-1182)Gag>Tag	p.E394*	MYBPC1_ENST00000551300.1_Nonsense_Mutation_p.E295*|MYBPC1_ENST00000536007.1_Nonsense_Mutation_p.E375*|MYBPC1_ENST00000549145.1_Nonsense_Mutation_p.E407*|RP11-755O11.2_ENST00000552081.1_RNA|MYBPC1_ENST00000541119.1_Nonsense_Mutation_p.E382*|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000545503.2_Nonsense_Mutation_p.E394*|MYBPC1_ENST00000361685.2_Nonsense_Mutation_p.E419*|MYBPC1_ENST00000547509.1_Nonsense_Mutation_p.E380*|MYBPC1_ENST00000392934.3_Nonsense_Mutation_p.E381*|MYBPC1_ENST00000553190.1_Nonsense_Mutation_p.E394*|MYBPC1_ENST00000452455.2_Nonsense_Mutation_p.E394*|MYBPC1_ENST00000441232.1_Nonsense_Mutation_p.E394*|MYBPC1_ENST00000547405.1_Nonsense_Mutation_p.E368*|MYBPC1_ENST00000360610.2_Nonsense_Mutation_p.E394*|MYBPC1_ENST00000361466.2_Nonsense_Mutation_p.E419*|RP11-755O11.2_ENST00000547027.1_RNA			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	394	Ig-like C2-type 3.				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						AATTAGAGTTGAGGGTAAAAA	0.353																																																0													126	119	122					12																	102043096		2203	4300	6503	SO:0001587	stop_gained	4604				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.1180G>T	12.37:g.102043096G>T	ENSP00000449702:p.Glu394*		B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Nonsense_Mutation	SNP	ENST00000550270.1	37	CCDS9085.1	.	.	.	.	.	.	.	.	.	.	G	32	5.108518	0.94292	.	.	ENSG00000196091	ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000540770;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000551300;ENST00000550270	.	.	.	5.98	5.98	0.97165	.	0.248852	0.27811	N	0.017753	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.452	0.99131	0.0:0.0:1.0:0.0	.	.	.	.	X	368;394;394;394;381;380;419;407;394;419;394;375;382;419;295;394	.	ENSP00000353822:E394X	E	+	1	0	MYBPC1	100567227	1.000000	0.71417	0.984000	0.44739	0.079000	0.17450	9.476000	0.97823	2.838000	0.97847	0.591000	0.81541	GAG		0.353	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1			T	102043096	G	T	102043096	4	4	749	1	0	0	0	0	0	1	0	0	10013	1291	45	4	1313	4	MYBPC1	12	102043096	Nonsense_Mutation	SNP	G	TCGA-KO-8408-01A-11D-2310-10	24623613	102043096	31808799	89	44018											
C1QTNF9B	387911	mdanderson.org	37	13	24465623	24465623	+	Silent	SNP	G	G	A	rs4083570		TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr13:24465623G>A	ENST00000382140.2	-	5	867	c.807C>T	c.(805-807)aaC>aaT	p.N269N	C1QTNF9B_ENST00000382057.3_Missense_Mutation_p.T98M|C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B_ENST00000382145.1_Missense_Mutation_p.T98M|MIPEP_ENST00000469167.1_5'Flank|C1QTNF9B_ENST00000382137.3_Silent_p.N269N|C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B_ENST00000556521.1_5'UTR|MIPEP_ENST00000382172.3_5'Flank|C1QTNF9B-AS1_ENST00000417034.1_RNA			B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	269	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.					collagen trimer (GO:0005581)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						TTTTTACTCCGTTTTTGACCA	0.507																																																0													137	117	124					13																	24465623		2203	4300	6503	SO:0001819	synonymous_variant	387911			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.807C>T	13.37:g.24465623G>A			A2A3T6|B9EH31|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4	Silent	SNP	ENST00000382140.2	37	CCDS31947.1	.	.	.	.	.	.	.	.	.	.	g	0.007	-2.002413	0.00431	.	.	ENSG00000205863	ENST00000382145;ENST00000382057	D;D	0.89343	-2.5;-2.5	3.96	-5.77	0.02369	.	.	.	.	.	D	0.88351	0.6413	.	.	.	0.19945	N	0.999942	.	.	.	.	.	.	T	0.82481	-0.0436	6	0.52906	T	0.07	.	15.0983	0.72253	0.4662:0.0:0.5338:0.0	rs4083570	.	.	.	M	98	ENSP00000371580:T98M;ENSP00000371489:T98M	ENSP00000371489:T98M	T	-	2	0	C1QTNF9B	23363623	0.000000	0.05858	0.269000	0.24586	0.053000	0.15095	-1.610000	0.02064	-1.672000	0.01464	-2.013000	0.00436	ACG		0.507	C1QTNF9B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044162.3	NM_001007537		A	24465623	G	A	24465623	2	1	749	1	0	0	0	0	0	0	0	1	1973	1136	40	1		1	C1QTNF9B	13	24465623	Silent	SNP	G	TCGA-KO-8408-01A-11D-2310-10		24465623	90704255	90	44019											
C13orf36	400120	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	13	37269302	37269302	+	Silent	SNP	G	G	A	rs202230256		TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr13:37269302G>A	ENST00000315190.3	+	2	533	c.87G>A	c.(85-87)acG>acA	p.T29T		NM_203451.2	NP_982276.2	A2A2V5	SRTM1_HUMAN	serine-rich and transmembrane domain containing 1	29						integral component of membrane (GO:0016021)											CCCTGTCCACGTCAGTGGACC	0.478																																																0													201	175	183					13																	37269302		2203	4300	6503	SO:0001819	synonymous_variant	400120				CCDS9358.1	13q13.3	2011-08-10	2011-08-10	2011-08-09	ENSG00000180440	ENSG00000180440			33792	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 36"	C13orf36			Standard	NM_203451		Approved		uc001uvt.4	A2A2V5	OTTHUMG00000016735	ENST00000315190.3:c.87G>A	13.37:g.37269302G>A			Q8N469	Silent	SNP	ENST00000315190.3	37	CCDS9358.1																																																																																				0.478	SERTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044518.2	NM_203451		A	37269302	G	A	37269302	2	1	749	1	0	0	0	0	0	0	0	1	1732	1132	40	1		1	C13orf36	13	37269302	Silent	SNP	G	TCGA-KO-8408-01A-11D-2310-10	12803679	37269302	77900576	91	44020											
FREM2	341640	broad.mit.edu	37	13	39266098	39266098	+	Silent	SNP	C	C	T			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr13:39266098C>T	ENST00000280481.7	+	1	4833	c.4617C>T	c.(4615-4617)caC>caT	p.H1539H		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1539					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)		TCACCATCCACAAGCTGGTTG	0.443																																																0													125	113	117					13																	39266098		2203	4300	6503	SO:0001819	synonymous_variant	341640			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.4617C>T	13.37:g.39266098C>T			Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	ENST00000280481.7	37	CCDS31960.1																																																																																				0.443	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		T	39266098	C	T	39266098	2	4	749	1	0	0	0	0	0	0	0	1	6047	477	17	2		2	FREM2	13	39266098	Silent	SNP	C	TCGA-KO-8408-01A-11D-2310-10	1996796	39266098	75903780	92	44021											
SALL2	6297	broad.mit.edu;mdanderson.org	37	14	21992203	21992203	+	Silent	SNP	C	C	T			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr14:21992203C>T	ENST00000327430.3	-	2	1953	c.1659G>A	c.(1657-1659)ttG>ttA	p.L553L	AE000658.22_ENST00000535893.1_RNA|SALL2_ENST00000450879.2_Silent_p.L416L|SALL2_ENST00000538754.1_Intron|SALL2_ENST00000317492.5_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	553					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(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		GTGAAGTCACCAACTTACTTA	0.547																																																0													113	92	99					14																	21992203		2203	4300	6503	SO:0001819	synonymous_variant	6297			AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821		"Zinc fingers, C2H2-type"	10526	protein-coding gene	gene with protein product		602219	"sal (Drosophila)-like 2", "sal-like 2 (Drosophila)"			8975705	Standard	XM_005267983		Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.1659G>A	14.37:g.21992203C>T			B2RMX6|B9EGK8|Q8N656|Q9Y4G1	Silent	SNP	ENST00000327430.3	37	CCDS32045.1	.	.	.	.	.	.	.	.	.	.	C	4.644	0.119658	0.08881	.	.	ENSG00000165821	ENST00000546363	.	.	.	5.12	2.33	0.28932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-23.0876	8.846	0.35170	0.0:0.7491:0.0:0.2509	.	.	.	.	X	412	.	.	W	-	2	0	SALL2	21062043	0.086000	0.21541	1.000000	0.80357	0.948000	0.59901	-0.125000	0.10579	0.203000	0.20529	-0.219000	0.12488	TGG		0.547	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401242.1	NM_005407		T	21992203	C	T	21992203	2	4	749	1	0	0	0	0	0	0	0	1	13817	593	21	2		2	SALL2	14	21992203	Silent	SNP	C	TCGA-KO-8408-01A-11D-2310-10		21992203	85357337	93	44022											
FAM179B	23116	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	14	45513838	45513838	+	Splice_Site	SNP	G	G	T			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr14:45513838G>T	ENST00000361577.3	+	13	4133	c.3919G>T	c.(3919-3921)Gtg>Ttg	p.V1307L	FAM179B_ENST00000361462.2_Splice_Site_p.V1307L|FAM179B_ENST00000382233.2_3'UTR|KLHL28_ENST00000553817.1_5'Flank	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1307										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						TTTTTTTTAGGTGAAAAATTT	0.303																																																0													47	49	49					14																	45513838		2202	4300	6502	SO:0001630	splice_region_variant	23116			AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"KIAA0423"	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.3919-1G>T	14.37:g.45513838G>T			Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.726304	0.89298	.	.	ENSG00000198718	ENST00000361577;ENST00000361462	T;T	0.52754	0.65;0.65	5.78	5.78	0.91487	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69878	0.3160	M	0.73962	2.25	0.80722	D	1	D;D	0.64830	0.966;0.994	D;D	0.70227	0.921;0.968	T	0.68258	-0.5456	9	.	.	.	-12.751	19.6126	0.95616	0.0:0.0:1.0:0.0	.	1307;1307	G3XAE9;Q9Y4F4	.;F179B_HUMAN	L	1307	ENSP00000355045:V1307L;ENSP00000354917:V1307L	.	V	+	1	0	FAM179B	44583588	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	9.540000	0.98080	2.730000	0.93505	0.650000	0.86243	GTG		0.303	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781	Missense_Mutation	T	45513838	G	T	45513838	5	4	749	1	0	0	0	0	0	0	1	0	5508	1275	44	4	3969	4	FAM179B	14	45513838	Splice_Site	SNP	G	TCGA-KO-8408-01A-11D-2310-10	23521635	45513838	61835702	94	44023											
C14orf166	51637	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	14	52458098	52458098	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr14:52458098T>C	ENST00000261700.3	+	2	290	c.125T>C	c.(124-126)aTt>aCt	p.I42T	C14orf166_ENST00000556760.1_Missense_Mutation_p.I42T	NM_016039.2	NP_057123.1	Q9Y224	CN166_HUMAN	chromosome 14 open reading frame 166	42					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|RNA transport (GO:0050658)|transcription, DNA-templated (GO:0006351)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-splicing ligase complex (GO:0072669)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA polymerase II core binding (GO:0000993)			endometrium(1)|large_intestine(3)|lung(2)	6	Breast(41;0.0639)|all_epithelial(31;0.101)					CACTACAAGATTGAAGACAGA	0.348																																																0													78	78	78					14																	52458098		2203	4300	6503	SO:0001583	missense	51637			AF151857	CCDS9705.1	14q22.1	2014-05-29			ENSG00000087302	ENSG00000087302			23169	protein-coding gene	gene with protein product	"RLL motif containing 1"	610858				10810093, 24608264	Standard	NM_016039		Approved	CGI-99, RLLM1, CLE, CLE7, LCRP369	uc010aod.3	Q9Y224	OTTHUMG00000152332	ENST00000261700.3:c.125T>C	14.37:g.52458098T>C	ENSP00000261700:p.Ile42Thr			Missense_Mutation	SNP	ENST00000261700.3	37	CCDS9705.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.331063	0.81690	.	.	ENSG00000087302	ENST00000261700;ENST00000556760	.	.	.	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.80476	0.4630	M	0.87682	2.9	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.82348	-0.0502	9	0.41790	T	0.15	-6.0145	14.4684	0.67499	0.0:0.0:0.0:1.0	.	42	Q9Y224	CN166_HUMAN	T	42	.	ENSP00000261700:I42T	I	+	2	0	C14orf166	51527848	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.701000	0.84566	1.967000	0.57214	0.397000	0.26171	ATT		0.348	C14orf166-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276887.1	NM_016039		C	52458098	T	C	52458098	3	2	749	1	0	0	0	0	1	0	0	0	1758	1493	52	3	131	3	C14orf166	14	52458098	Missense_Mutation	SNP	T	TCGA-KO-8408-01A-11D-2310-10	6944260	52458098	54891442	95	44024											
ADAM21	8747	mdanderson.org	37	14	70924566	70924566	+	Missense_Mutation	SNP	C	C	G	rs3829452	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr14:70924566C>G	ENST00000603540.1	+	2	608	c.350C>G	c.(349-351)gCa>gGa	p.A117G	ADAM21_ENST00000267499.3_Missense_Mutation_p.A117G|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	117				A -> G (in Ref. 1; AAD55255 and 3; AAI09025/AAI09026). {ECO:0000305}.	binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.A117G(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TACGTGGAGGCAGCCCCTGAG	0.488													C|||	1854	0.370208	0.4947	0.2161	5008	,	,		17161	0.5734		0.2207	False		,,,				2504	0.2556															1	Substitution - Missense(1)	stomach(1)											93	126	115					14																	70924566		2199	4300	6499	SO:0001583	missense	8747			AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"ADAM metallopeptidase domain containing"	200	protein-coding gene	gene with protein product		603713	"a disintegrin and metalloproteinase domain 21"			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.350C>G	14.37:g.70924566C>G	ENSP00000474385:p.Ala117Gly		O43507|Q2VPC6|Q32MR0	Missense_Mutation	SNP	ENST00000603540.1	37	CCDS9804.1	577	0.2641941391941392	150	0.3048780487804878	67	0.1850828729281768	267	0.46678321678321677	93	0.12269129287598944	C	0.001	-2.913798	0.00056	.	.	ENSG00000139985	ENST00000267499	T	0.03689	3.84	3.76	2.86	0.33363	Peptidase M12B, propeptide (1);	0.156559	0.28908	N	0.013758	T	0.00012	0.0000	N	0.00004	-3.32	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.44436	-0.9328	9	0.02654	T	1	.	12.0431	0.53464	0.0:0.1746:0.8254:0.0	rs3829452;rs11531313;rs57973896	117	Q9UKJ8	ADA21_HUMAN	G	117	ENSP00000267499:A117G	ENSP00000267499:A117G	A	+	2	0	ADAM21	69994319	0.987000	0.35691	0.013000	0.15412	0.010000	0.07245	2.053000	0.41326	0.922000	0.37019	-0.234000	0.12200	GCA		0.488	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3			G	70924566	C	G	70924566	3	3	749	1	0	0	0	0	1	0	0	0	243	710	25	4	352	4	ADAM21	14	70924566	Missense_Mutation	SNP	C	TCGA-KO-8408-01A-11D-2310-10	18466468	70924566	36424974	96	44025											
TTC7B	145567	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	14	91044471	91044471	+	Silent	SNP	G	G	A	rs538193691		TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr14:91044471G>A	ENST00000328459.6	-	19	2410	c.2289C>T	c.(2287-2289)caC>caT	p.H763H	TTC7B_ENST00000554654.1_5'UTR|TTC7B_ENST00000357056.2_Silent_p.H780H	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	763										NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				TGCTCTTCACGTGGGTGGGGC	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		18196	0.0		0.001	False		,,,				2504	0.0															0													62	56	58					14																	91044471		2202	4300	6502	SO:0001819	synonymous_variant	145567			BC035865	CCDS32140.1	14q32.12	2013-01-11	2004-06-02	2004-06-04		ENSG00000165914		"Tetratricopeptide (TTC) repeat domain containing"	19858	protein-coding gene	gene with protein product			"tetratricopeptide repeat domain 7 like 1"	TTC7L1			Standard	XM_005267367		Approved		uc001xyp.3	Q86TV6		ENST00000328459.6:c.2289C>T	14.37:g.91044471G>A			Q86U24|Q86VT3	Silent	SNP	ENST00000328459.6	37	CCDS32140.1	.	.	.	.	.	.	.	.	.	.	G	10.43	1.348527	0.24426	.	.	ENSG00000165914	ENST00000557292	.	.	.	5.48	-0.267	0.12938	.	.	.	.	.	T	0.56124	0.1964	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50625	-0.8806	4	.	.	.	-21.5179	9.901	0.41348	0.6406:0.0:0.3594:0.0	.	.	.	.	C	191	.	.	R	-	1	0	TTC7B	90114224	0.942000	0.31987	0.998000	0.56505	0.996000	0.88848	0.041000	0.13927	0.030000	0.15379	-0.140000	0.14226	CGT		0.637	TTC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411364.2			A	91044471	G	A	91044471	2	1	749	1	0	0	0	0	0	0	0	1	16718	1136	40	1		1	TTC7B	14	91044471	Silent	SNP	G	TCGA-KO-8408-01A-11D-2310-10	20119905	91044471	16305069	97	44026											
GOLGA8A	23015	broad.mit.edu	37	15	34678927	34678927	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr15:34678927delA	ENST00000359187.4	-	3	248	c.184delT	c.(184-186)tccfs	p.S63fs	GOLGA8A_ENST00000360553.3_Frame_Shift_Del_p.S63fs|GOLGA8A_ENST00000543376.1_5'UTR|GOLGA8A_ENST00000432566.2_Frame_Shift_Del_p.S93fs	NM_181077.3	NP_851422.1	A7E2F4	GOG8A_HUMAN	golgin A8 family, member A	91						Golgi apparatus (GO:0005794)|membrane (GO:0016020)							all_lung(180;2.78e-08)		all cancers(64;8.27e-19)|GBM - Glioblastoma multiforme(113;6.98e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		TGCAGAGAGGAGGAGGCGGAG	0.567																																																0													6	10	9					15																	34678927		1801	3926	5727	SO:0001589	frameshift_variant	23015			BX648160	CCDS10038.1	15q14	2011-10-25	2010-02-12		ENSG00000175265	ENSG00000175265			31972	protein-coding gene	gene with protein product			"golgi autoantigen, golgin subfamily a, 8A"			10660574, 10677249	Standard	NM_181077		Approved	GM88, GOLGIN-67	uc001zii.3	A7E2F4	OTTHUMG00000129447	ENST00000359187.4:c.184delT	15.37:g.34678927delA	ENSP00000352111:p.Ser63fs		A7MCY9|B7ZMK5|O94937|Q52M46|Q68DK6|Q9NZG8|Q9NZW0|Q9NZW3	Frame_Shift_Del	DEL	ENST00000359187.4	37	CCDS10038.1																																																																																				0.567	GOLGA8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251830.2	NM_181076		-	34678927	A	-	34678927	7	5	749	1	0	1	0	1	0	0	0	0	6565	304	11	0	1683	0	GOLGA8A	15	34678927	Frame_Shift_Del	DEL	A	TCGA-KO-8408-01A-11D-2310-10		34678927	67852465	98	44027											
FSIP1	161835	broad.mit.edu	37	15	40056059	40056059	+	Frame_Shift_Del	DEL	T	T	-	rs560347922		TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr15:40056059delT	ENST00000350221.3	-	5	731	c.522delA	c.(520-522)aaafs	p.K174fs		NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	174										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)		AAGATAAAAATTTTTTTGTAT	0.308																																																0																																										SO:0001589	frameshift_variant	161835			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.522delA	15.37:g.40056059delT	ENSP00000280236:p.Lys174fs		Q6X2C8|Q86Y89	Frame_Shift_Del	DEL	ENST00000350221.3	37	CCDS10050.1																																																																																				0.308	FSIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252118.2	NM_152597		-	40056059	T	-	40056059	7	5	749	1	0	1	0	1	0	0	0	0	6076	1490	52	0	1255	0	FSIP1	15	40056059	Frame_Shift_Del	DEL	T	TCGA-KO-8408-01A-11D-2310-10	5377132	40056059	62475333	99	44028											
EXD1	161829	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	15	41501706	41501706	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr15:41501706C>T	ENST00000314992.5	-	5	543	c.353G>A	c.(352-354)tGg>tAg	p.W118*	EXD1_ENST00000458580.2_Nonsense_Mutation_p.W176*	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	118	3'-5' exonuclease.						3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						CACCTGCAGCCAGCACAGTTT	0.368																																																0													60	56	57					15																	41501706		2203	4300	6503	SO:0001587	stop_gained	161829			BC030628	CCDS10072.1, CCDS66738.1	15q15.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000178997	ENSG00000178997			28507	protein-coding gene	gene with protein product			"exonuclease 3'-5' domain-like 1"	EXDL1		12477932	Standard	NM_001286441		Approved	MGC33637	uc001znk.3	Q8NHP7	OTTHUMG00000130232	ENST00000314992.5:c.353G>A	15.37:g.41501706C>T	ENSP00000321029:p.Trp118*		A8K909|B7Z839|Q6ZW94	Nonsense_Mutation	SNP	ENST00000314992.5	37	CCDS10072.1	.	.	.	.	.	.	.	.	.	.	C	36	5.874195	0.97055	.	.	ENSG00000178997	ENST00000314992;ENST00000458580	.	.	.	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-19.3436	15.148	0.72674	0.0:1.0:0.0:0.0	.	.	.	.	X	118;176	.	ENSP00000321029:W118X	W	-	2	0	EXD1	39288998	1.000000	0.71417	1.000000	0.80357	0.759000	0.43091	4.658000	0.61497	2.642000	0.89623	0.591000	0.81541	TGG		0.368	EXD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252553.2	NM_152596		T	41501706	C	T	41501706	4	4	749	1	0	0	0	0	0	1	0	0	5299	595	21	2	1215	2	EXD1	15	41501706	Nonsense_Mutation	SNP	C	TCGA-KO-8408-01A-11D-2310-10	1445647	41501706	61029686	100	44029											
MAP1A	4130	broad.mit.edu	37	15	43821988	43821989	+	Frame_Shift_Ins	INS	-	-	C	rs200714150		TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr15:43821988_43821989insC	ENST00000300231.5	+	5	8626_8627	c.8176_8177insC	c.(8176-8178)gacfs	p.D2726fs	MAP1A_ENST00000382031.1_Frame_Shift_Ins_p.D2964fs|MAP1A_ENST00000399453.1_Frame_Shift_Ins_p.D2726fs			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2726					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)	CAGTGGGAATGACCCTGCCAAT	0.574																																																0																																										SO:0001589	frameshift_variant	4130			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	Exception_encountered	15.37:g.43821988_43821989insC	ENSP00000300231:p.Asp2726fs		O95643|Q12973|Q15882|Q9UJT4	Frame_Shift_Ins	INS	ENST00000300231.5	37	CCDS42031.1																																																																																				0.574	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		C	43821989	-	C	43821988	7	5	749	1	0	1	1	0	0	0	0	0	9229	1290	45	0	8182	0	MAP1A	15	43821988	Frame_Shift_Ins	INS	-	TCGA-KO-8408-01A-11D-2310-10	2320282	43821988	58709404	101	44030											
SNX1	6642	broad.mit.edu	37	15	64422451	64422451	+	Missense_Mutation	SNP	G	G	T			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr15:64422451G>T	ENST00000559844.1	+	10	960	c.946G>T	c.(946-948)Gta>Tta	p.V316L	SNX1_ENST00000353874.4_Missense_Mutation_p.V316L|SNX1_ENST00000261889.5_Missense_Mutation_p.V316L|SNX1_ENST00000560829.1_Missense_Mutation_p.V98L|SNX1_ENST00000561026.1_Missense_Mutation_p.V251L			Q13596	SNX1_HUMAN	sorting nexin 1	316	BAR.				early endosome to Golgi transport (GO:0034498)|intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)|retromer complex (GO:0030904)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						GCTCCAGGAGGTAGAGTGTGA	0.438																																																0													82	78	79					15																	64422451		2203	4300	6503	SO:0001583	missense	6642			BC000357	CCDS32266.1, CCDS32268.1, CCDS58371.1	15q22.31	2011-05-03			ENSG00000028528	ENSG00000028528		"Sorting nexins"	11172	protein-coding gene	gene with protein product		601272				8638121	Standard	NM_003099		Approved	SNX1A, MGC8664, HsT17379, Vps5	uc010uio.2	Q13596		ENST00000559844.1:c.946G>T	15.37:g.64422451G>T	ENSP00000453785:p.Val316Leu		A6NM19|A8K6T7|H0Y2M5|O60750|O60751|Q6ZRJ8	Missense_Mutation	SNP	ENST00000559844.1	37	CCDS32266.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.673595	0.47781	.	.	ENSG00000028528	ENST00000380285;ENST00000353874;ENST00000261889	T	0.27720	1.65	4.7	3.75	0.43078	Vps5 C-terminal (1);	0.058522	0.64402	D	0.000002	T	0.21468	0.0517	N	0.25332	0.735	0.80722	D	1	B;P;B;B;P;B;B	0.38250	0.228;0.624;0.031;0.031;0.57;0.001;0.031	B;B;B;B;B;B;B	0.43445	0.363;0.42;0.101;0.101;0.295;0.005;0.055	T	0.04320	-1.0960	10	0.02654	T	1	-8.8677	10.6197	0.45472	0.1015:0.0:0.8984:0.0	.	316;226;316;316;251;316;316	Q6ZRJ8;Q59GU6;Q53HL9;Q53GY8;Q13596-2;A6NKH4;Q13596	.;.;.;.;.;.;SNX1_HUMAN	L	316;316;251	ENSP00000326668:V316L	ENSP00000261889:V251L	V	+	1	0	SNX1	62209504	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.729000	0.54999	1.234000	0.43709	0.561000	0.74099	GTA		0.438	SNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418559.1	NM_003099		T	64422451	G	T	64422451	3	4	749	1	0	0	0	0	1	0	0	0	14886	1261	44	4	984	4	SNX1	15	64422451	Missense_Mutation	SNP	G	TCGA-KO-8408-01A-11D-2310-10	20600463	64422451	38108941	102	44031											
IQCH	64799	mdanderson.org;bcgsc.ca	37	15	67652191	67652191	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr15:67652191A>G	ENST00000335894.4	+	8	787	c.721A>G	c.(721-723)Agc>Ggc	p.S241G	IQCH_ENST00000546225.1_5'UTR|IQCH_ENST00000358767.3_Missense_Mutation_p.S68G	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	241										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)		GTAGGGGAAAAGCAGAAGGTC	0.433																																																0													251	231	238					15																	67652191		2201	4299	6500	SO:0001583	missense	64799			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.721A>G	15.37:g.67652191A>G	ENSP00000336861:p.Ser241Gly		A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	Missense_Mutation	SNP	ENST00000335894.4	37	CCDS32273.1	.	.	.	.	.	.	.	.	.	.	A	8.174	0.792329	0.16258	.	.	ENSG00000103599	ENST00000358767;ENST00000335894	T;T	0.44881	0.93;0.91	5.78	1.15	0.20763	.	0.874228	0.10119	N	0.713657	T	0.14098	0.0341	N	0.01800	-0.715	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.21449	-1.0245	10	0.15499	T	0.54	-2.7848	3.3911	0.07289	0.3785:0.2017:0.4198:0.0	.	241;68	Q86VS3;Q86VS3-3	IQCH_HUMAN;.	G	68;241	ENSP00000351617:S68G;ENSP00000336861:S241G	ENSP00000336861:S241G	S	+	1	0	IQCH	65439245	0.877000	0.30153	0.989000	0.46669	0.949000	0.60115	-0.378000	0.07446	0.330000	0.23485	-0.242000	0.12053	AGC		0.433	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256969.1	NM_022784		G	67652191	A	G	67652191	3	3	749	1	0	0	0	0	1	0	0	0	7813	72	3	3	879	3	IQCH	15	67652191	Missense_Mutation	SNP	A	TCGA-KO-8408-01A-11D-2310-10	3229740	67652191	34879201	103	44032											
GOLGA6B	55889	broad.mit.edu;mdanderson.org	37	15	72954855	72954855	+	Silent	SNP	G	G	A			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr15:72954855G>A	ENST00000421285.3	+	11	1110	c.1110G>A	c.(1108-1110)caG>caA	p.Q370Q	RN7SL853P_ENST00000477951.2_RNA	NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	370						Golgi apparatus (GO:0005794)				NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						TTCGGGAGCAGCAGAAGACGC	0.592																																																0													16	18	17					15																	72954855		1441	2844	4285	SO:0001819	synonymous_variant	55889				CCDS10245.2	15q24.1	2011-10-25	2010-02-12		ENSG00000215186	ENSG00000215186			32205	protein-coding gene	gene with protein product			"golgi autoantigen, golgin subfamily a, 6B"				Standard	XM_006720604		Approved		uc010uks.1	A6NDN3	OTTHUMG00000133511	ENST00000421285.3:c.1110G>A	15.37:g.72954855G>A			A8MYY7	Silent	SNP	ENST00000421285.3	37	CCDS10245.2																																																																																				0.592	GOLGA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257474.4	NM_018652		A	72954855	G	A	72954855	2	1	749	1	0	0	0	0	0	0	0	1	6560	962	34	2		2	GOLGA6B	15	72954855	Silent	SNP	G	TCGA-KO-8408-01A-11D-2310-10	5302664	72954855	29576537	104	44033											
SYNM	23336	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	15	99671287	99671287	+	Nonsense_Mutation	SNP	A	A	T			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr15:99671287A>T	ENST00000560674.1	+	4	2333	c.1864A>T	c.(1864-1866)Aaa>Taa	p.K622*	RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000336292.6_Nonsense_Mutation_p.K907*|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000328642.7_Nonsense_Mutation_p.K907*			O15061	SYNEM_HUMAN	synemin, intermediate filament protein	908	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						CACTCACTGGAAAGAACAAGC	0.522																																					Pancreas(125;1071 1762 21750 40003 40381)											0													35	38	37					15																	99671287		1929	4138	6067	SO:0001587	stop_gained	23336			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.1864A>T	15.37:g.99671287A>T	ENSP00000453040:p.Lys622*		A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Nonsense_Mutation	SNP	ENST00000560674.1	37		.	.	.	.	.	.	.	.	.	.	A	41	8.928228	0.99006	.	.	ENSG00000182253	ENST00000336292;ENST00000328642	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.2654	0.73657	1.0:0.0:0.0:0.0	.	.	.	.	X	907	.	ENSP00000330469:K907X	K	+	1	0	SYNM	97488810	0.962000	0.33011	0.908000	0.35775	0.898000	0.52572	2.395000	0.44459	2.191000	0.70037	0.533000	0.62120	AAA		0.522	SYNM-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000415698.2	NM_145728		T	99671287	A	T	99671287	4	4	749	1	0	0	0	0	0	1	0	0	15460	247	9	5	2735	5	SYNM	15	99671287	Nonsense_Mutation	SNP	A	TCGA-KO-8408-01A-11D-2310-10	26716432	99671287	2860105	105	44034											
VASN	114990	mdanderson.org	37	16	4431373	4431373	+	Silent	SNP	G	G	C	rs740374	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr16:4431373G>C	ENST00000304735.3	+	2	650	c.495G>C	c.(493-495)ccG>ccC	p.P165P	CORO7_ENST00000251166.4_Intron|CORO7_ENST00000574025.1_Intron|CORO7_ENST00000539968.1_Intron|CORO7-PAM16_ENST00000572467.1_Intron|CORO7_ENST00000423908.2_Intron|CORO7_ENST00000537233.2_Intron	NM_138440.2	NP_612449.2	Q6EMK4	VASN_HUMAN	vasorin	165				Missing (in Ref. 2; AAQ88665). {ECO:0000305}.	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						CACTGCCCCCGCTGCGCCTGC	0.697													G|||	66	0.0131789	0.0008	0.0202	5008	,	,		13608	0.0		0.0358	False		,,,				2504	0.0153															0								G	,,,,	25,4267		0,25,2121	12	9	10		,,,,495	-11.6	0	16	dbSNP_86	10	191,8271		1,189,4041	no	intron,intron,intron,intron,coding-synonymous	CORO7,VASN,CORO7-PAM16	NM_001201472.1,NM_001201473.1,NM_001201479.1,NM_024535.4,NM_138440.2	,,,,	1,214,6162	CC,CG,GG		2.2571,0.5825,1.6936	,,,,	,,,,165/674	4431373	216,12538	2146	4231	6377	SO:0001819	synonymous_variant	114990			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.495G>C	16.37:g.4431373G>C			Q6UXL4|Q6UXL5|Q96CX1	Silent	SNP	ENST00000304735.3	37	CCDS10514.1																																																																																				0.697	VASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251632.1	NM_138440		C	4431373	G	C	4431373	2	2	749	1	0	0	0	0	0	0	0	1	17132	1074	38	4		4	VASN	16	4431373	Silent	SNP	G	TCGA-KO-8408-01A-11D-2310-10		4431373	85923380	106	44035											
XPO6	23214	broad.mit.edu	37	16	28128693	28128693	+	Silent	SNP	G	G	A	rs372282404		TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr16:28128693G>A	ENST00000304658.5	-	15	2450	c.1950C>T	c.(1948-1950)ttC>ttT	p.F650F	XPO6_ENST00000565698.1_Silent_p.F636F	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	650					protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						TGAGTGTCACGAACTGCTGCG	0.502																																																0								G		0,4084		0,0,2042	233	224	227		1950	-8.2	0.4	16		227	1,8375		0,1,4187	no	coding-synonymous	XPO6	NM_015171.2		0,1,6229	AA,AG,GG		0.0119,0.0,0.0080		650/1126	28128693	1,12459	2042	4188	6230	SO:0001819	synonymous_variant	23214			AY026388	CCDS42135.1, CCDS59266.1	16p11.2	2011-04-13	2003-03-11	2003-03-14		ENSG00000169180		"Exportins"	19733	protein-coding gene	gene with protein product		608411	"RAN binding protein 20"	RANBP20		14592989	Standard	NM_001270940		Approved	KIAA0370, FLJ22519	uc002dpa.2	Q96QU8		ENST00000304658.5:c.1950C>T	16.37:g.28128693G>A			A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Silent	SNP	ENST00000304658.5	37	CCDS42135.1																																																																																				0.502	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433732.1	XM_055195		A	28128693	G	A	28128693	2	1	749	1	0	0	0	0	0	0	0	1	17453	1049	37	1		1	XPO6	16	28128693	Silent	SNP	G	TCGA-KO-8408-01A-11D-2310-10	23697320	28128693	62226060	107	44036											
RBL2	5934	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	16	53493465	53493465	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr16:53493465C>T	ENST00000262133.6	+	9	1419	c.1282C>T	c.(1282-1284)Cgt>Tgt	p.R428C	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Missense_Mutation_p.R212C	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	428	Domain A.|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)			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						TAGCTTGAGTCGTCTTCACAC	0.458																																																0													95	83	87					16																	53493465		2198	4300	6498	SO:0001583	missense	5934			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.1282C>T	16.37:g.53493465C>T	ENSP00000262133:p.Arg428Cys		B7Z913|Q15073|Q16084|Q8NE70|Q92812	Missense_Mutation	SNP	ENST00000262133.6	37	CCDS10748.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.410944	0.83340	.	.	ENSG00000103479	ENST00000262133;ENST00000544405;ENST00000379935;ENST00000544545	D;D;D	0.88509	-2.39;-2.39;-2.39	6.04	6.04	0.98038	Retinoblastoma-associated protein, A-box (1);Cyclin-like (2);	0.000000	0.85682	D	0.000000	D	0.95095	0.8411	M	0.80422	2.495	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.996;0.982;0.95	D	0.94740	0.7918	10	0.87932	D	0	-15.4524	20.5948	0.99439	0.0:1.0:0.0:0.0	.	212;428;138;428	B7Z913;Q8NE70;E9PG04;Q08999	.;.;.;RBL2_HUMAN	C	428;354;138;212	ENSP00000262133:R428C;ENSP00000443744:R354C;ENSP00000444685:R212C	ENSP00000262133:R428C	R	+	1	0	RBL2	52050966	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.649000	0.83500	2.873000	0.98535	0.563000	0.77884	CGT		0.458	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256908.3	NM_005611		T	53493465	C	T	53493465	3	4	749	1	0	0	0	0	1	0	0	0	13116	884	31	1	1316	1	RBL2	16	53493465	Missense_Mutation	SNP	C	TCGA-KO-8408-01A-11D-2310-10	25364772	53493465	36861288	108	44037											
GPR56	9289	broad.mit.edu	37	16	57697474	57697474	+	Missense_Mutation	SNP	A	A	C			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr16:57697474A>C	ENST00000388812.4	+	14	2502	c.2062A>C	c.(2062-2064)Acc>Ccc	p.T688P	GPR56_ENST00000562631.1_Missense_Mutation_p.T682P|GPR56_ENST00000456916.1_Missense_Mutation_p.T688P|GPR56_ENST00000379694.4_Missense_Mutation_p.T518P|GPR56_ENST00000568908.1_Missense_Mutation_p.T682P|GPR56_ENST00000388813.5_Missense_Mutation_p.T682P|GPR56_ENST00000567835.1_Missense_Mutation_p.T688P|GPR56_ENST00000562558.1_Missense_Mutation_p.T682P|GPR56_ENST00000568909.1_Missense_Mutation_p.T688P|GPR56_ENST00000540164.2_Missense_Mutation_p.T682P|GPR56_ENST00000538815.1_Missense_Mutation_p.T682P|GPR56_ENST00000379696.3_Missense_Mutation_p.T688P|GPR56_ENST00000544297.1_Missense_Mutation_p.T507P			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	688					angiogenesis (GO:0001525)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cerebral cortex radial glia guided migration (GO:0021801)|G-protein coupled receptor signaling pathway (GO:0007186)|layer formation in cerebral cortex (GO:0021819)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron migration (GO:2001223)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cell adhesion (GO:0045785)|positive regulation of Rho protein signal transduction (GO:0035025)|protein kinase C signaling (GO:0070528)|Rho protein signal transduction (GO:0007266)|vascular endothelial growth factor production (GO:0010573)	extracellular vesicular exosome (GO:0070062)|glial limiting end-foot (GO:0097451)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|G-protein coupled receptor activity (GO:0004930)			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						CTCGGGCAGCACCTCGTCCAG	0.672																																																0													52	52	52					16																	57697474		2198	4300	6498	SO:0001583	missense	9289			AJ011001	CCDS32460.1, CCDS32461.1, CCDS73893.1	16q13	2014-08-08				ENSG00000205336		"-", "GPCR / Class B : Orphans"	4512	protein-coding gene	gene with protein product		604110				10049584, 10100861	Standard	XM_005256237		Approved	TM7LN4, TM7XN1	uc002emb.2	Q9Y653		ENST00000388812.4:c.2062A>C	16.37:g.57697474A>C	ENSP00000373464:p.Thr688Pro		A6NIT7|A6NJV9|B0M0K4|B4DR54|O95966|Q6ZMP1|Q8NGB3|Q96HB4	Missense_Mutation	SNP	ENST00000388812.4	37	CCDS32460.1	.	.	.	.	.	.	.	.	.	.	A	16.35	3.098377	0.56183	.	.	ENSG00000205336	ENST00000388813;ENST00000388812;ENST00000538815;ENST00000456916;ENST00000540164;ENST00000544297;ENST00000379694;ENST00000379696	T;T;T;T;T;T;T;T	0.51071	0.72;0.73;0.72;0.73;0.72;1.66;1.1;0.73	4.79	4.79	0.61399	.	0.117908	0.37715	N	0.001978	T	0.53077	0.1774	N	0.24115	0.695	0.30860	N	0.733618	D;D;D;D	0.76494	0.999;0.998;0.999;0.998	D;D;D;D	0.85130	0.997;0.994;0.973;0.994	T	0.58239	-0.7671	10	0.62326	D	0.03	.	11.6826	0.51466	1.0:0.0:0.0:0.0	.	507;687;682;688	F5H144;B4DR54;Q9Y653-2;Q9Y653	.;.;.;GPR56_HUMAN	P	682;688;682;688;682;507;518;688	ENSP00000373465:T682P;ENSP00000373464:T688P;ENSP00000444415:T682P;ENSP00000398034:T688P;ENSP00000444911:T682P;ENSP00000438006:T507P;ENSP00000369016:T518P;ENSP00000369018:T688P	ENSP00000369016:T518P	T	+	1	0	GPR56	56254975	1.000000	0.71417	1.000000	0.80357	0.305000	0.27757	4.852000	0.62904	1.797000	0.52628	0.402000	0.26972	ACC		0.672	GPR56-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433436.3			C	57697474	A	C	57697474	3	2	749	1	0	0	0	0	1	0	0	0	6702	159	6	5	2127	5	GPR56	16	57697474	Missense_Mutation	SNP	A	TCGA-KO-8408-01A-11D-2310-10	4204009	57697474	32657279	109	44038											
MMP15	4324	broad.mit.edu	37	16	58075623	58075624	+	Frame_Shift_Del	DEL	CA	CA	-	rs551320756	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	CA	CA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr16:58075623_58075624delCA	ENST00000219271.3	+	6	1798_1799	c.1013_1014delCA	c.(1012-1014)ccafs	p.P340fs		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	340	Poly-Pro.				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)	CCCCAGCCACCACCCCCAGGTG	0.743																																																0										60,4042		9,42,2000						2.5	1			10	42,7928		13,16,3956	no	frameshift	MMP15	NM_002428.2		22,58,5956	A1A1,A1R,RR		0.527,1.4627,0.8449				102,11970				SO:0001589	frameshift_variant	4324			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.1013_1014delCA	16.37:g.58075623_58075624delCA	ENSP00000219271:p.Pro340fs		A0A2U6|Q14111	Frame_Shift_Del	DEL	ENST00000219271.3	37	CCDS10792.1																																																																																				0.743	MMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257342.1	NM_002428		-	58075624	CA	-	58075623	7	5	749	1	0	1	0	1	0	0	0	0	9656	594	21	0	1035	0	MMP15	16	58075623	Frame_Shift_Del	DEL	CA	TCGA-KO-8408-01A-11D-2310-10	378149	58075623	32279130	110	44039	444	2									
MMP15	4324	broad.mit.edu	37	16	58075631	58075631	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr16:58075631delG	ENST00000219271.3	+	6	1806	c.1021delG	c.(1021-1023)ggtfs	p.G342fs		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	342					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)	ACCACCCCCAGGTGGGAAGCC	0.741																																																0													10	12	11					16																	58075631		2140	4221	6361	SO:0001589	frameshift_variant	4324			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.1021delG	16.37:g.58075631delG	ENSP00000219271:p.Gly342fs		A0A2U6|Q14111	Frame_Shift_Del	DEL	ENST00000219271.3	37	CCDS10792.1																																																																																				0.741	MMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257342.1	NM_002428		-	58075631	G	-	58075631	7	5	749	1	0	1	0	1	0	0	0	0	9656	1000	35	0	1043	0	MMP15	16	58075631	Frame_Shift_Del	DEL	G	TCGA-KO-8408-01A-11D-2310-10	8	58075631	32279122	111	44040	444	2									
TP53	7157	broad.mit.edu	37	17	7578176	7578176	+	Splice_Site	SNP	C	C	A			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr17:7578176C>A	ENST00000269305.4	-	6	862		c.e6+1		TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000455263.2_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.?(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)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	66	Unknown(56)|Whole gene deletion(8)|Insertion - In frame(1)|Insertion - Frameshift(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)	GRCh37	CS071266	TP53	S							80	75	77					17																	7578176		2203	4300	6503	SO:0001630	splice_region_variant	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.672+1G>T	17.37:g.7578176C>A			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	20.3	3.964220	0.74131	.	.	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	A	7578176	C	A	7578176	5	1	749	1	0	0	0	0	0	0	1	0	16386	521	18	4	621	4	TP53	17	7578176	Splice_Site	SNP	C	TCGA-KO-8408-01A-11D-2310-10		7578176	73617034	112	44041											
TP53	7157	broad.mit.edu;hgsc.bcm.edu	37	17	7579716	7579716	+	Frame_Shift_Del	DEL	G	G	-	rs397516438		TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr17:7579716delG	ENST00000269305.4	-	3	269	c.80delC	c.(79-81)cctfs	p.P27fs	TP53_ENST00000413465.2_Frame_Shift_Del_p.P27fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.P27fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.P27fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Frame_Shift_Del_p.P27fs|TP53_ENST00000455263.2_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)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	15	Whole gene deletion(8)|Deletion - Frameshift(7)	large_intestine(5)|bone(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)											42	42	42					17																	7579716		2203	4300	6503	SO:0001589	frameshift_variant	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.80delC	17.37:g.7579716delG	ENSP00000269305:p.Pro27fs		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	CCDS11118.1																																																																																				0.617	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		-	7579716	G	-	7579716	7	5	749	1	0	1	0	1	0	0	0	0	16386	1000	35	0	1226	0	TP53	17	7579716	Frame_Shift_Del	DEL	G	TCGA-KO-8408-01A-11D-2310-10	1540	7579716	73615494	113	44042	445	2									
TP53	7157	bcgsc.ca	37	17	7579717	7579717	+	Frame_Shift_Del	DEL	G	G	-	rs397516438		TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr17:7579717delG	ENST00000269305.4	-	3	268	c.79delC	c.(79-81)cctfs	p.P27fs	TP53_ENST00000413465.2_Frame_Shift_Del_p.P27fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.P27fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.P27fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Frame_Shift_Del_p.P27fs|TP53_ENST00000455263.2_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(2)|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)	TTGTTTTCAGGAAGTCTGAAA	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)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	12	Whole gene deletion(8)|Deletion - Frameshift(4)	bone(4)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)											42	42	42					17																	7579717		2203	4300	6503	SO:0001589	frameshift_variant	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.79delC	17.37:g.7579717delG	ENSP00000269305:p.Pro27fs		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	CCDS11118.1																																																																																				0.622	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		-	7579717	G	-	7579717	7	5	749	1	0	1	0	1	0	0	0	0	16386	1174	41	0	1227	0	TP53	17	7579717	Frame_Shift_Del	DEL	G	TCGA-KO-8408-01A-11D-2310-10	1	7579717	73615493	114	44043	445	2									
KRT38	8687	mdanderson.org	37	17	39595537	39595537	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr17:39595537G>A	ENST00000246646.3	-	3	649	c.650C>T	c.(649-651)gCg>gTg	p.A217V		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	217	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)				GGCCAGGGTCGCATCATCCAG	0.637																																																0													83	75	78					17																	39595537		2203	4300	6503	SO:0001583	missense	8687			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.650C>T	17.37:g.39595537G>A	ENSP00000246646:p.Ala217Val		A2RRM5|Q6A164	Missense_Mutation	SNP	ENST00000246646.3	37	CCDS11392.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.928753	0.34002	.	.	ENSG00000171360	ENST00000246646	D	0.90004	-2.6	4.31	3.11	0.35812	Filament (1);	1.672080	0.04241	N	0.336988	D	0.85961	0.5819	L	0.45051	1.395	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.71217	-0.4658	10	0.72032	D	0.01	.	7.6159	0.28158	0.8792:0.0:0.1208:0.0	.	217	O76015	KRT38_HUMAN	V	217	ENSP00000246646:A217V	ENSP00000246646:A217V	A	-	2	0	KRT38	36849063	0.044000	0.20184	0.710000	0.30468	0.780000	0.44128	3.320000	0.51991	0.590000	0.29694	0.484000	0.47621	GCG		0.637	KRT38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257307.2	NM_006771		A	39595537	G	A	39595537	3	1	749	1	0	0	0	0	1	0	0	0	8477	1087	38	1	740	1	KRT38	17	39595537	Missense_Mutation	SNP	G	TCGA-KO-8408-01A-11D-2310-10	32015820	39595537	41599673	115	44044											
KRT32	3882	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	17	39623194	39623194	+	Silent	SNP	G	G	A			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr17:39623194G>A	ENST00000225899.3	-	1	487	c.384C>T	c.(382-384)atC>atT	p.I128I	RNU2-32P_ENST00000411193.1_RNA	NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	128	Coil 1A.|Rod.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				AGGCCTCTTGGATCCTGCTCT	0.582																																																0													111	98	102					17																	39623194		2203	4300	6503	SO:0001819	synonymous_variant	3882			X90761	CCDS11393.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000108759	ENSG00000108759		"-", "Intermediate filaments type I, keratins (acidic)"	6449	protein-coding gene	gene with protein product	"hard keratin type I"	602760	"keratin, hair, acidic, 2"	KRTHA2		7556444, 8823373, 16831889	Standard	NM_002278		Approved	Ha-2	uc002hwr.3	Q14532	OTTHUMG00000133430	ENST00000225899.3:c.384C>T	17.37:g.39623194G>A				Silent	SNP	ENST00000225899.3	37	CCDS11393.1																																																																																				0.582	KRT32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257293.1	NM_002278		A	39623194	G	A	39623194	2	1	749	1	0	0	0	0	0	0	0	1	8470	1164	41	2		2	KRT32	17	39623194	Silent	SNP	G	TCGA-KO-8408-01A-11D-2310-10	27657	39623194	41572016	116	44045											
KRT19	3880	mdanderson.org	37	17	39684321	39684321	+	Missense_Mutation	SNP	G	G	C	rs4602	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr17:39684321G>C	ENST00000361566.3	-	1	239	c.179C>G	c.(178-180)gCc>gGc	p.A60G		NM_002276.4	NP_002267.2	P08727	K1C19_HUMAN	keratin 19	60	Head.		A -> G (in dbSNP:rs4602). {ECO:0000269|PubMed:10623642, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:21269460, ECO:0000269|PubMed:2447559, ECO:0000269|PubMed:2448790, ECO:0000269|PubMed:2469734}.		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)				GCCGCCGTAGGCCCCCGAGGA	0.726													C|||	3746	0.748003	0.6445	0.7896	5008	,	,		12585	0.9187		0.6471	False		,,,				2504	0.7863															0								C	GLY/ALA	2720,1596		894,932,332	17	23	21		179	4.4	1	17	dbSNP_52	21	5361,3111		1756,1849,631	no	missense	KRT19	NM_002276.4	60	2650,2781,963	CC,CG,GG		36.721,36.9787,36.8079		60/401	39684321	8081,4707	2158	4236	6394	SO:0001583	missense	3880				CCDS11399.1	17q21.2	2013-06-20			ENSG00000171345	ENSG00000171345		"-", "Intermediate filaments type I, keratins (acidic)"	6436	protein-coding gene	gene with protein product	"keratin, type I cytoskeletal 19", "keratin, type I, 40-kd", "cytokeratin 19", "40-kDa keratin intermediate filament"	148020				16831889	Standard	NM_002276		Approved	K19, CK19, K1CS, MGC15366		P08727	OTTHUMG00000133422	ENST00000361566.3:c.179C>G	17.37:g.39684321G>C	ENSP00000355124:p.Ala60Gly		B2R874|Q5XG83|Q6NW33|Q7L5M9|Q96A53|Q96FV1|Q9BYF9|Q9P1Y4	Missense_Mutation	SNP	ENST00000361566.3	37	CCDS11399.1	1594	0.7298534798534798	313	0.6361788617886179	269	0.7430939226519337	533	0.9318181818181818	479	0.6319261213720316	C	2.730	-0.264716	0.05754	0.630213	0.63279	ENSG00000171345	ENST00000361566;ENST00000455635	T;T	0.81330	-1.48;-1.07	4.39	4.39	0.52855	.	0.426572	0.19926	N	0.102967	T	0.00012	0.0000	N	0.00237	-1.79	0.58432	P	4.000000000004E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.40040	-0.9584	9	0.13853	T	0.58	.	14.8587	0.70362	0.0:0.8554:0.1446:0.0	rs4602;rs3188663;rs16967073;rs17856215;rs58113253	60	P08727	K1C19_HUMAN	G	60	ENSP00000355124:A60G;ENSP00000408759:A60G	ENSP00000355124:A60G	A	-	2	0	KRT19	36937847	0.005000	0.15991	1.000000	0.80357	0.129000	0.20672	0.256000	0.18351	1.213000	0.43380	-0.216000	0.12614	GCC		0.726	KRT19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257285.1	NM_002276		C	39684321	G	C	39684321	3	2	749	1	0	0	0	0	1	0	0	0	8458	1203	42	4	1047	4	KRT19	17	39684321	Missense_Mutation	SNP	G	TCGA-KO-8408-01A-11D-2310-10	61127	39684321	41510889	117	44046											
ACLY	47	hgsc.bcm.edu;ucsc.edu	37	17	40049426	40049426	+	Splice_Site	SNP	T	T	C			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr17:40049426T>C	ENST00000352035.2	-	15	1591	c.1461A>G	c.(1459-1461)ggA>ggG	p.G487G	ACLY_ENST00000353196.1_Splice_Site_p.G477G|ACLY_ENST00000537919.1_Splice_Site_p.G216G|ACLY_ENST00000590151.1_Splice_Site_p.G487G|ACLY_ENST00000393896.2_Splice_Site_p.G477G	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	487					ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				TGGTGCTCTTTCCTGGTGGGC	0.627																																					Colon(64;807 1396 15971 30971)											0													82	77	79					17																	40049426		2203	4300	6503	SO:0001630	splice_region_variant	47			X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"ATP citrate synthase"	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.1460-1A>G	17.37:g.40049426T>C			B4DIM0|B4E3P0|Q13037|Q9BRL0	Silent	SNP	ENST00000352035.2	37	CCDS11412.1																																																																																				0.627	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1	NM_001096	Silent	C	40049426	T	C	40049426	5	2	749	1	0	0	0	0	0	0	1	0	143	1797	62	3	1904	3	ACLY	17	40049426	Splice_Site	SNP	T	TCGA-KO-8408-01A-11D-2310-10	365105	40049426	41145784	118	44047											
CDC27	996	mdanderson.org	37	17	45234650	45234650	+	Silent	SNP	A	A	G			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr17:45234650A>G	ENST00000066544.3	-	6	669	c.576T>C	c.(574-576)agT>agC	p.S192S	CDC27_ENST00000527547.1_Silent_p.S192S|CDC27_ENST00000446365.2_Silent_p.S131S|CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000531206.1_Silent_p.S192S	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	192					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						TGTGAGATAAACTATGATTAG	0.373																																																0													67	67	67					17																	45234650		2203	4300	6503	SO:0001819	synonymous_variant	996			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.576T>C	17.37:g.45234650A>G			G3V1C4|Q16349|Q96F35	Silent	SNP	ENST00000066544.3	37	CCDS11509.1																																																																																				0.373	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			G	45234650	A	G	45234650	2	3	749	1	0	0	0	0	0	0	0	1	3068	40	2	3		3	CDC27	17	45234650	Silent	SNP	A	TCGA-KO-8408-01A-11D-2310-10	5185224	45234650	35960560	119	44048											
CCDC45	90799	ucsc.edu;bcgsc.ca	37	17	62521946	62521946	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr17:62521946T>C	ENST00000556440.2	+	9	1478	c.968T>C	c.(967-969)gTa>gCa	p.V323A	CEP95_ENST00000553412.1_Missense_Mutation_p.V159A	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN	centrosomal protein 95kDa	323						centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)				endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						AAATGGGAAGTATATCCAGCT	0.383																																																0													72	70	70					17																	62521946		1846	4097	5943	SO:0001583	missense	90799			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.968T>C	17.37:g.62521946T>C	ENSP00000450461:p.Val323Ala		B4DMD2|Q96M81	Missense_Mutation	SNP	ENST00000556440.2	37	CCDS45763.1	.	.	.	.	.	.	.	.	.	.	T	10.53	1.375115	0.24857	.	.	ENSG00000258890	ENST00000553956;ENST00000556440;ENST00000553412	T;T	0.36878	1.23;1.23	5.1	-4.85	0.03142	.	1.411470	0.03847	N	0.271690	T	0.20373	0.0490	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.18777	-1.0326	10	0.16420	T	0.52	3.826	7.8451	0.29421	0.1351:0.5551:0.0:0.3097	.	323	Q96GE4	CEP95_HUMAN	A	258;323;159	ENSP00000450461:V323A;ENSP00000450906:V159A	ENSP00000438458:V258A	V	+	2	0	CEP95	59952408	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.385000	0.07379	-0.677000	0.05231	-1.069000	0.02264	GTA		0.383	CEP95-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445100.2	NM_138363		C	62521946	T	C	62521946	3	2	749	1	0	0	0	0	1	0	0	0	2818	1638	57	3	1002	3	CCDC45	17	62521946	Missense_Mutation	SNP	T	TCGA-KO-8408-01A-11D-2310-10	17287296	62521946	18673264	120	44049											
ZNF516	9658	broad.mit.edu	37	18	74153725	74153726	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr18:74153725_74153726insC	ENST00000443185.2	-	3	1602_1603	c.1285_1286insG	c.(1285-1287)gagfs	p.E429fs	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	429					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)		CTCGGCCGGCTCGGCCACCTTA	0.713																																																0																																										SO:0001589	frameshift_variant	9658			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.1286dupG	18.37:g.74153726_74153726dupC	ENSP00000394757:p.Glu429fs			Frame_Shift_Ins	INS	ENST00000443185.2	37																																																																																					0.713	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643		C	74153726	-	C	74153725	7	5	749	1	0	1	1	0	0	0	0	0	17965	1551	54	0	2226	0	ZNF516	18	74153725	Frame_Shift_Ins	INS	-	TCGA-KO-8408-01A-11D-2310-10		74153725	3923523	121	44050											
ABCA7	10347	mdanderson.org	37	19	1047002	1047002	+	Silent	SNP	A	A	G	rs3752234	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr19:1047002A>G	ENST00000263094.6	+	14	2055	c.1824A>G	c.(1822-1824)gcA>gcG	p.A608A	ABCA7_ENST00000435683.2_Silent_p.A470A|ABCA7_ENST00000533574.1_Intron|ABCA7_ENST00000433129.1_Silent_p.A608A	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	608					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)		TCAGCGCCGCACTGCTGGTTC	0.726													G|||	2899	0.578874	0.4637	0.7104	5008	,	,		13766	0.75		0.5199	False		,,,				2504	0.5256															0										2219,2141		606,1007,567	14	13	13		1824	-2.7	0.3	19	dbSNP_107	13	4663,3873		1348,1967,953	no	coding-synonymous	ABCA7	NM_019112.3		1954,2974,1520	GG,GA,AA		45.3725,49.1055,46.6346		608/2147	1047002	6882,6014	2180	4268	6448	SO:0001819	synonymous_variant	10347			AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"ATP binding cassette transporters / subfamily A"	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.1824A>G	19.37:g.1047002A>G			Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Silent	SNP	ENST00000263094.6	37	CCDS12055.1																																																																																				0.726	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		G	1047002	A	G	1047002	2	3	749	1	0	0	0	0	0	0	0	1	37	146	6	3		3	ABCA7	19	1047002	Silent	SNP	A	TCGA-KO-8408-01A-11D-2310-10		1047002	58081981	122	44051											
HMHA1	23526	mdanderson.org	37	19	1081617	1081617	+	Silent	SNP	A	A	G	rs10404947	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr19:1081617A>G	ENST00000313093.2	+	18	2490	c.2259A>G	c.(2257-2259)caA>caG	p.Q753Q	HMHA1_ENST00000590214.1_Silent_p.Q780Q|HMHA1_ENST00000543365.1_Silent_p.Q636Q|HMHA1_ENST00000536472.1_Silent_p.Q621Q|HMHA1_ENST00000539243.2_Silent_p.Q769Q|HMHA1_ENST00000586866.1_Silent_p.Q757Q|HMHA1_ENST00000590577.1_Silent_p.Q388Q	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	753					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)		AGAAGCTGCAAGGCCGCCTGC	0.667													g|||	3807	0.760184	0.8079	0.8718	5008	,	,		13576	0.6607		0.7783	False		,,,				2504	0.7004															0										3437,847		1403,631,108	6	7	7		2259	2.2	1	19	dbSNP_119	7	6717,1707		2727,1263,222	no	coding-synonymous	HMHA1	NM_012292.2		4130,1894,330	GG,GA,AA		20.2635,19.7712,20.0976		753/1137	1081617	10154,2554	2142	4212	6354	SO:0001819	synonymous_variant	23526			D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"Rho GTPase activating proteins"	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.2259A>G	19.37:g.1081617A>G			B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Silent	SNP	ENST00000313093.2	37	CCDS32863.1																																																																																				0.667	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1			G	1081617	A	G	1081617	2	3	749	1	0	0	0	0	0	0	0	1	7242	69	3	3		3	HMHA1	19	1081617	Silent	SNP	A	TCGA-KO-8408-01A-11D-2310-10	34615	1081617	58047366	123	44052											
ADAT3	113179	mdanderson.org	37	19	1912251	1912251	+	Missense_Mutation	SNP	A	A	G	rs150715312	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr19:1912251A>G	ENST00000602400.1	+	2	385	c.157A>G	c.(157-159)Aag>Gag	p.K53E	ADAT3_ENST00000329478.2_Missense_Mutation_p.K69E|SCAMP4_ENST00000414057.2_Intron|SCAMP4_ENST00000409472.1_Intron|SCAMP4_ENST00000316097.8_Intron			Q96EY9	ADAT3_HUMAN	adenosine deaminase, tRNA-specific 3	53					tRNA processing (GO:0008033)		hydrolase activity (GO:0016787)|zinc ion binding (GO:0008270)			breast(1)|kidney(3)|pancreas(1)|skin(2)	7		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)		CGTCCTGGACAAGCGCCAGAC	0.731													A|||	14	0.00279553	0.0008	0.0072	5008	,	,		11791	0.0		0.008	False		,,,				2504	0.0															0								A	,GLU/LYS	19,4335		0,19,2158	12	13	13		,157	3.8	0.9	19	dbSNP_134	13	144,8388		0,144,4122	yes	intron,missense	SCAMP4,ADAT3	NM_079834.2,NM_138422.1	,56	0,163,6280	GG,GA,AA		1.6878,0.4364,1.2649	,probably-damaging	,53/352	1912251	163,12723	2177	4266	6443	SO:0001583	missense	113179			BC011824	CCDS12076.1, CCDS12076.2	19p13.3	2011-05-19	2011-05-19		ENSG00000213638	ENSG00000213638			25151	protein-coding gene	gene with protein product	"tRNA-specific adenosine deaminase 3 homolog (S. cerevisiae)"	615302	"adenosine deaminase, tRNA-specific 3, TAD3 homolog (S. cerevisiae)"			12457566	Standard	NM_138422		Approved	TAD3	uc002luh.4	Q96EY9	OTTHUMG00000154591	ENST00000602400.1:c.157A>G	19.37:g.1912251A>G	ENSP00000473571:p.Lys53Glu			Missense_Mutation	SNP	ENST00000602400.1	37		9	0.004120879120879121	1	0.0020325203252032522	2	0.0055248618784530384	0	0.0	6	0.0079155672823219	a	15.08	2.726322	0.48833	0.004364	0.016878	ENSG00000213638	ENST00000329478;ENST00000454697	.	.	.	4.81	3.79	0.43588	.	0.168491	0.50627	D	0.000108	T	0.41119	0.1145	M	0.69185	2.1	0.41829	D	0.990062	P	0.40970	0.734	B	0.42798	0.398	T	0.52034	-0.8629	9	0.56958	D	0.05	-18.1231	9.6141	0.39681	0.797:0.203:0.0:0.0	.	53	Q96EY9	ADAT3_HUMAN	E	53	.	ENSP00000332448:K53E	K	+	1	0	ADAT3	1863251	1.000000	0.71417	0.864000	0.33941	0.072000	0.16883	2.446000	0.44908	0.712000	0.32039	0.523000	0.50628	AAG		0.731	ADAT3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_138422		G	1912251	A	G	1912251	3	3	749	1	0	0	0	0	1	0	0	0	286	131	5	3	159	3	ADAT3	19	1912251	Missense_Mutation	SNP	A	TCGA-KO-8408-01A-11D-2310-10	830634	1912251	57216732	124	44053											
ZNRF4	148066	mdanderson.org	37	19	5455971	5455971	+	Missense_Mutation	SNP	G	G	T	rs8103406	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr19:5455971G>T	ENST00000222033.4	+	1	546	c.469G>T	c.(469-471)Gcc>Tcc	p.A157S		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	157	PA.		A -> S (in dbSNP:rs8103406).	AIV -> SIA (in Ref. 4; AAH17592). {ECO:0000305}.		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)		CTCTCTGGGCGCCATCGTGCT	0.682													G|||	2713	0.541733	0.3585	0.4971	5008	,	,		15533	0.753		0.5278	False		,,,				2504	0.6176															0								G	SER/ALA	1582,2672		336,910,881	27	31	30		469	-2.2	0	19	dbSNP_116	30	4185,4267		1076,2033,1117	no	missense	ZNRF4	NM_181710.3	99	1412,2943,1998	TT,TG,GG		49.5149,37.1885,45.388	benign	157/430	5455971	5767,6939	2127	4226	6353	SO:0001583	missense	148066			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.469G>T	19.37:g.5455971G>T	ENSP00000222033:p.Ala157Ser		A8K886|O75866	Missense_Mutation	SNP	ENST00000222033.4	37	CCDS42475.1	1225	0.5608974358974359	185	0.37601626016260165	200	0.5524861878453039	447	0.7814685314685315	393	0.5184696569920845	G	6.035	0.374881	0.11409	0.371885	0.495149	ENSG00000105428	ENST00000222033	T	0.05996	3.36	4.65	-2.19	0.07015	Protease-associated domain, PA (1);	0.532164	0.18743	U	0.132384	T	0.00012	0.0000	N	0.13327	0.33	0.80722	P	0.0	P	0.35527	0.507	B	0.40410	0.328	T	0.04140	-1.0974	9	0.20519	T	0.43	-12.463	8.1434	0.31097	0.0:0.1176:0.3591:0.5233	rs8103406;rs17205855;rs17845552;rs17858449;rs61351917;rs8103406	157	Q8WWF5	ZNRF4_HUMAN	S	157	ENSP00000222033:A157S	ENSP00000222033:A157S	A	+	1	0	ZNRF4	5406971	0.024000	0.19004	0.000000	0.03702	0.066000	0.16364	0.569000	0.23638	-0.062000	0.13088	0.491000	0.48974	GCC		0.682	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450924.1	NM_181710		T	5455971	G	T	5455971	3	4	749	1	0	0	0	0	1	0	0	0	18219	1087	38	4	471	4	ZNRF4	19	5455971	Missense_Mutation	SNP	G	TCGA-KO-8408-01A-11D-2310-10	3543720	5455971	53673012	125	44054	446	2									
ZNRF4	148066	mdanderson.org	37	19	5455978	5455978	+	Missense_Mutation	SNP	T	T	C	rs386806230|rs8107825	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr19:5455978T>C	ENST00000222033.4	+	1	553	c.476T>C	c.(475-477)gTg>gCg	p.V159A		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	159	PA.		V -> A (in dbSNP:rs8107825).	AIV -> SIA (in Ref. 4; AAH17592). {ECO:0000305}.		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)		GGCGCCATCGTGCTGATCCGC	0.677													C|||	2726	0.544329	0.3744	0.4957	5008	,	,		15728	0.752		0.5219	False		,,,				2504	0.6176															0								C	ALA/VAL	1603,2649		348,907,871	28	31	30		476	-3.1	0	19	dbSNP_116	30	4077,4391		1076,1925,1233	yes	missense	ZNRF4	NM_181710.3	64	1424,2832,2104	CC,CT,TT		48.146,37.6999,44.6541	benign	159/430	5455978	5680,7040	2126	4234	6360	SO:0001583	missense	148066			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.476T>C	19.37:g.5455978T>C	ENSP00000222033:p.Val159Ala		A8K886|O75866	Missense_Mutation	SNP	ENST00000222033.4	37	CCDS42475.1	1232	0.5641025641025641	191	0.3882113821138211	201	0.5552486187845304	447	0.7814685314685315	393	0.5184696569920845	C	0.375	-0.931828	0.02359	0.376999	0.48146	ENSG00000105428	ENST00000222033	T	0.10668	2.85	4.65	-3.08	0.05347	Protease-associated domain, PA (1);	0.244527	0.32503	N	0.006003	T	0.00012	0.0000	N	0.17248	0.465	0.80722	P	0.0	B	0.10296	0.003	B	0.14578	0.011	T	0.39035	-0.9633	9	0.02654	T	1	-7.3391	12.8579	0.57897	0.0:0.5818:0.0:0.4182	rs8107825;rs17856547;rs60068947;rs8107825	159	Q8WWF5	ZNRF4_HUMAN	A	159	ENSP00000222033:V159A	ENSP00000222033:V159A	V	+	2	0	ZNRF4	5406978	0.002000	0.14202	0.000000	0.03702	0.006000	0.05464	-0.987000	0.03743	-0.981000	0.03520	-1.140000	0.01884	GTG		0.677	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450924.1	NM_181710		C	5455978	T	C	5455978	3	2	749	1	0	0	0	0	1	0	0	0	18219	1696	59	3	478	3	ZNRF4	19	5455978	Missense_Mutation	SNP	T	TCGA-KO-8408-01A-11D-2310-10	7	5455978	53673005	126	44055	446	2									
PNPLA6	10908	mdanderson.org	37	19	7615903	7615903	+	Silent	SNP	G	G	A	rs8107538	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr19:7615903G>A	ENST00000221249.6	+	20	2408	c.1977G>A	c.(1975-1977)ccG>ccA	p.P659P	PNPLA6_ENST00000594864.1_3'UTR|PNPLA6_ENST00000545201.2_Silent_p.P633P|PNPLA6_ENST00000450331.3_Silent_p.P659P|PNPLA6_ENST00000414982.3_Silent_p.P707P|PNPLA6_ENST00000600737.1_Silent_p.P698P	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	698					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						CCCGGCAGCCGCGAGCCACGA	0.687													G|||	1012	0.202077	0.3419	0.1758	5008	,	,		9640	0.0129		0.2386	False		,,,				2504	0.1892															0								G	,,,,	1025,2749		156,713,1018	4	4	4		2121,1899,1977,2094,1977	-9.8	0.6	19	dbSNP_116	4	1552,5774		175,1202,2286	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PNPLA6	NM_001166111.1,NM_001166112.1,NM_001166113.1,NM_001166114.1,NM_006702.4	,,,,	331,1915,3304	AA,AG,GG		21.1848,27.1595,23.2162	,,,,	707/1376,633/1301,659/1328,698/1366,659/1328	7615903	2577,8523	1887	3663	5550	SO:0001819	synonymous_variant	10908			AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"Patatin-like phospholipase domain containing"	16268	protein-coding gene	gene with protein product	"neuropathy target esterase"	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.1977G>A	19.37:g.7615903G>A			A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Silent	SNP	ENST00000221249.6	37	CCDS32891.1																																																																																				0.687	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	NM_006702		A	7615903	G	A	7615903	2	1	749	1	0	0	0	0	0	0	0	1	12171	1074	38	1		1	PNPLA6	19	7615903	Silent	SNP	G	TCGA-KO-8408-01A-11D-2310-10	2159925	7615903	51513080	127	44056											
ZNF709	163051	broad.mit.edu	37	19	12575585	12575585	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr19:12575585C>T	ENST00000397732.3	-	4	1322	c.1151G>A	c.(1150-1152)cGa>cAa	p.R384Q	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.R384Q	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	384					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(3)|upper_aerodigestive_tract(3)	6						AGTGTGAGTTCGTTCATGGAT	0.403																																					GBM(33;565 669 12371 29134 51667)											0													102	108	106					19																	12575585		2203	4300	6503	SO:0001583	missense	163051			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.1151G>A	19.37:g.12575585C>T	ENSP00000380840:p.Arg384Gln		A8K4E6	Missense_Mutation	SNP	ENST00000397732.3	37	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	C	19.70	3.877206	0.72294	.	.	ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000428311	T;T	0.24723	1.84;1.84	2.71	2.71	0.32032	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.33938	N	0.004420	T	0.39733	0.1089	M	0.65320	2	0.30009	N	0.815324	D	0.76494	0.999	P	0.56343	0.796	T	0.41787	-0.9489	10	0.72032	D	0.01	.	13.272	0.60165	0.0:1.0:0.0:0.0	.	384	Q8N972	ZN709_HUMAN	Q	384	ENSP00000380840:R384Q;ENSP00000404127:R384Q	ENSP00000404127:R384Q	R	-	2	0	ZNF709;CTD-2192J16.17	12436585	0.000000	0.05858	0.031000	0.17742	0.968000	0.65278	-1.097000	0.03349	1.860000	0.53959	0.467000	0.42956	CGA		0.403	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		T	12575585	C	T	12575585	3	4	749	1	0	0	0	0	1	0	0	0	18118	884	31	1	778	1	ZNF709	19	12575585	Missense_Mutation	SNP	C	TCGA-KO-8408-01A-11D-2310-10	4959682	12575585	46553398	128	44057											
CPAMD8	27151	hgsc.bcm.edu;ucsc.edu	37	19	17088187	17088187	+	Silent	SNP	G	G	A			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr19:17088187G>A	ENST00000443236.1	-	15	1921	c.1890C>T	c.(1888-1890)ttC>ttT	p.F630F	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	583						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						CCTGGTTTTCGAAGAAGGTCT	0.612																																																0													88	90	89					19																	17088187		1970	4144	6114	SO:0001819	synonymous_variant	27151			AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.1890C>T	19.37:g.17088187G>A			Q8NC09|Q9ULD7	Silent	SNP	ENST00000443236.1	37	CCDS42519.1	.	.	.	.	.	.	.	.	.	.	g	0.634	-0.815901	0.02776	.	.	ENSG00000160111	ENST00000443236	.	.	.	2.78	-2.91	0.05631	.	.	.	.	.	T	0.53498	0.1800	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49781	-0.8903	4	.	.	.	.	9.1401	0.36899	0.7257:0.0:0.2743:0.0	.	.	.	.	L	641	.	.	S	-	2	0	CPAMD8	16949187	0.999000	0.42202	0.465000	0.27155	0.150000	0.21749	0.664000	0.25068	-0.662000	0.05338	-0.963000	0.02626	TCG		0.612	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		A	17088187	G	A	17088187	2	1	749	1	0	0	0	0	0	0	0	1	3797	1049	37	1		1	CPAMD8	19	17088187	Silent	SNP	G	TCGA-KO-8408-01A-11D-2310-10	4512602	17088187	42040796	129	44058											
ZNF676	163223	mdanderson.org	37	19	22363448	22363448	+	Silent	SNP	A	A	T	rs200452805		TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr19:22363448A>T	ENST00000397121.2	-	3	1388	c.1071T>A	c.(1069-1071)atT>atA	p.I357I		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	357					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)				CAGTATGAATAATCTTATGTT	0.383																																																0													68	74	72					19																	22363448		2162	4271	6433	SO:0001819	synonymous_variant	163223			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.1071T>A	19.37:g.22363448A>T			A8MVX5	Silent	SNP	ENST00000397121.2	37	CCDS42539.1																																																																																				0.383	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		T	22363448	A	T	22363448	2	4	749	1	0	0	0	0	0	0	0	1	18088	358	13	5		5	ZNF676	19	22363448	Silent	SNP	A	TCGA-KO-8408-01A-11D-2310-10	5275261	22363448	36765535	130	44059											
FFAR1	2864	mdanderson.org	37	19	35843086	35843086	+	Missense_Mutation	SNP	G	G	A	rs2301151	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr19:35843086G>A	ENST00000246553.2	+	1	642	c.632G>A	c.(631-633)cGc>cAc	p.R211H		NM_005303.2	NP_005294.1	O14842	FFAR1_HUMAN	free fatty acid receptor 1	211			R -> H (in dbSNP:rs2301151). {ECO:0000269|PubMed:15489334}.		energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|positive regulation of GTPase activity (GO:0043547)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;4.58e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.67e-19)|all cancers(14;2.01e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		Icosapent(DB00159)	GCACTGGCCCGCTCCGGCCTG	0.697													A|||	4405	0.879593	0.9902	0.8746	5008	,	,		14480	0.8056		0.7714	False		,,,				2504	0.9213															0			GRCh37	CM057586	FFAR1	M	rs2301151	A	HIS/ARG	4166,218		1978,210,4	15	15	15		632	-4.6	0.4	19	dbSNP_100	15	6689,1893		2621,1447,223	yes	missense	FFAR1	NM_005303.2	29	4599,1657,227	AA,AG,GG		22.0578,4.9726,16.281	benign	211/301	35843086	10855,2111	2192	4291	6483	SO:0001583	missense	2864			AF024687	CCDS12458.1	19q13.1	2012-08-08	2006-02-15	2006-02-15	ENSG00000126266	ENSG00000126266		"GPCR / Class A : Fatty acid receptors"	4498	protein-coding gene	gene with protein product		603820	"G protein-coupled receptor 40"	GPR40		15684720	Standard	NM_005303		Approved	FFA1R	uc002nzc.2	O14842		ENST00000246553.2:c.632G>A	19.37:g.35843086G>A	ENSP00000246553:p.Arg211His		Q0VAS2|Q4VBL4	Missense_Mutation	SNP	ENST00000246553.2	37	CCDS12458.1	1787	0.8182234432234432	481	0.9776422764227642	301	0.8314917127071824	436	0.7622377622377622	569	0.7506596306068601	A	3.093	-0.186384	0.06340	0.950274	0.779422	ENSG00000126266	ENST00000246553	T	0.43688	0.94	4.1	-4.61	0.03380	GPCR, rhodopsin-like superfamily (1);	0.710890	0.12507	N	0.462804	T	0.00012	0.0000	N	0.12746	0.255	0.80722	P	0.0	B	0.06786	0.001	B	0.04013	0.001	T	0.19614	-1.0300	9	0.39692	T	0.17	-1.514	9.798	0.40746	0.2797:0.0:0.6033:0.117	rs2301151;rs17705375;rs2301151	211	O14842	FFAR1_HUMAN	H	211	ENSP00000246553:R211H	ENSP00000246553:R211H	R	+	2	0	FFAR1	40534926	0.004000	0.15560	0.443000	0.26883	0.215000	0.24574	0.285000	0.18883	-1.498000	0.01824	-1.327000	0.01280	CGC		0.697	FFAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466112.2	NM_005303		A	35843086	G	A	35843086	3	1	749	1	0	0	0	0	1	0	0	0	5829	1087	38	1	634	1	FFAR1	19	35843086	Missense_Mutation	SNP	G	TCGA-KO-8408-01A-11D-2310-10	13479638	35843086	23285897	131	44060											
RYR1	6261	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	19	38946146	38946146	+	Missense_Mutation	SNP	C	C	G			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr19:38946146C>G	ENST00000359596.3	+	15	1632	c.1632C>G	c.(1630-1632)gaC>gaG	p.D544E	RYR1_ENST00000360985.3_Missense_Mutation_p.D544E|RYR1_ENST00000355481.4_Missense_Mutation_p.D544E			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	544			D -> Y (in MHS1). {ECO:0000269|PubMed:19191329}.		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)	CAAACTTGGACTGGCTGGTCA	0.597																																																0													89	81	84					19																	38946146		2203	4300	6503	SO:0001583	missense	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.1632C>G	19.37:g.38946146C>G	ENSP00000352608:p.Asp544Glu		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	C	14.16	2.452398	0.43531	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.89270	-2.49;-2.49;-2.49	4.01	0.592	0.17471	Intracellular calcium-release channel (1);	0.000000	0.64402	U	0.000001	D	0.93347	0.7879	M	0.86573	2.825	0.36063	D	0.841576	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	D	0.92377	0.5910	10	0.87932	D	0	.	7.3077	0.26457	0.0:0.3696:0.0:0.6304	.	544;544	P21817-2;P21817	.;RYR1_HUMAN	E	544	ENSP00000352608:D544E;ENSP00000347667:D544E;ENSP00000354254:D544E	ENSP00000347667:D544E	D	+	3	2	RYR1	43637986	0.980000	0.34600	0.999000	0.59377	0.992000	0.81027	0.231000	0.17872	0.006000	0.14734	0.407000	0.27541	GAC		0.597	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			G	38946146	C	G	38946146	3	3	749	1	0	0	0	0	1	0	0	0	13774	564	20	4	1690	4	RYR1	19	38946146	Missense_Mutation	SNP	C	TCGA-KO-8408-01A-11D-2310-10	3103060	38946146	20182837	132	44061											
NFKBIB	4793	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	19	39398202	39398202	+	Missense_Mutation	SNP	G	G	A	rs557957478		TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr19:39398202G>A	ENST00000313582.5	+	5	906	c.872G>A	c.(871-873)cGc>cAc	p.R291H	NFKBIB_ENST00000392079.3_Missense_Mutation_p.R259H|NFKBIB_ENST00000572515.1_Missense_Mutation_p.R291H	NM_002503.4	NP_002494.2	Q15653	IKBB_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta	291					innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|signal transduction (GO:0007165)|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)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	8	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			ATCCTCGCCCGCCTCCTCCGT	0.706													G|||	1	0.000199681	0.0	0.0	5008	,	,		15579	0.0		0.001	False		,,,				2504	0.0				Pancreas(165;1492 2005 6979 7739 34483)											0													20	21	21					19																	39398202		2191	4278	6469	SO:0001583	missense	4793			L40407	CCDS12524.1, CCDS74362.1	19q13.1	2013-01-10				ENSG00000104825		"Ankyrin repeat domain containing"	7798	protein-coding gene	gene with protein product		604495				9763672	Standard	NM_002503		Approved	IKBB, TRIP9	uc002ojw.3	Q15653		ENST00000313582.5:c.872G>A	19.37:g.39398202G>A	ENSP00000312988:p.Arg291His		A8K3F4|Q96BJ7	Missense_Mutation	SNP	ENST00000313582.5	37	CCDS12524.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.371349	0.42003	.	.	ENSG00000104825	ENST00000509705;ENST00000313582;ENST00000392079	T;T	0.65549	-0.16;-0.16	4.9	3.87	0.44632	Ankyrin repeat-containing domain (4);	0.255015	0.28296	N	0.015872	T	0.55986	0.1955	L	0.61387	1.9	0.31726	N	0.637663	B;B;B	0.13145	0.004;0.007;0.004	B;B;B	0.12837	0.005;0.008;0.005	T	0.62445	-0.6853	10	0.87932	D	0	-12.6474	7.3513	0.26693	0.1908:0.0:0.8092:0.0	.	314;259;291	Q59EM7;G5E9C2;Q15653	.;.;IKBB_HUMAN	H	314;291;259	ENSP00000312988:R291H;ENSP00000375929:R259H	ENSP00000312988:R291H	R	+	2	0	NFKBIB	44090042	0.454000	0.25728	0.998000	0.56505	0.846000	0.48090	0.616000	0.24344	1.299000	0.44798	-0.229000	0.12294	CGC		0.706	NFKBIB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438155.1	NM_002503		A	39398202	G	A	39398202	3	1	749	1	0	0	0	0	1	0	0	0	10380	1087	38	1	890	1	NFKBIB	19	39398202	Missense_Mutation	SNP	G	TCGA-KO-8408-01A-11D-2310-10	452056	39398202	19730781	133	44062											
ZNF45	7596	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	44418134	44418134	+	Nonsense_Mutation	SNP	G	G	C			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr19:44418134G>C	ENST00000269973.5	-	10	2544	c.1454C>G	c.(1453-1455)tCa>tGa	p.S485*	RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_Nonsense_Mutation_p.S485*	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	485					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S485*(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						ATTAAGATCTGAGCTCCGACT	0.502																																																1	Substitution - Nonsense(1)	lung(1)											60	60	60					19																	44418134		2203	4300	6503	SO:0001587	stop_gained	7596			M67509	CCDS12632.1	19q13.2	2013-01-08	2005-01-11			ENSG00000124459		"Zinc fingers, C2H2-type", "-"	13111	protein-coding gene	gene with protein product		194554	"zinc finger protein 45 (a Kruppel-associated box (KRAB) domain polypeptide)", "zinc finger protein 13"	ZNF13		9067431	Standard	NM_003425		Approved		uc002oxw.2	Q02386		ENST00000269973.5:c.1454C>G	19.37:g.44418134G>C	ENSP00000269973:p.Ser485*		P17016|P78472|Q9P1U9	Nonsense_Mutation	SNP	ENST00000269973.5	37	CCDS12632.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	46|46	12.410211|12.410211	0.99665|0.99665	.|.	.|.	ENSG00000124459|ENSG00000124459	ENST00000328762|ENST00000269973	.|.	.|.	.|.	3.62|3.62	3.62|3.62	0.41486|0.41486	.|.	.|0.000000	.|0.30704	.|N	.|0.009053	T|.	0.65595|.	0.2706|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.68834|.	-0.5304|.	5|.	0.72032|0.62326	D|D	0.01|0.03	-6.1441|-6.1441	10.5424|10.5424	0.45041|0.45041	0.0:0.0:0.8058:0.1942|0.0:0.0:0.8058:0.1942	.|.	.|.	.|.	.|.	E|X	485|485	.|.	ENSP00000367176:Q485E|ENSP00000269973:S485X	Q|S	-|-	1|2	0|0	ZNF45|ZNF45	49109974|49109974	0.001000|0.001000	0.12720|0.12720	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	0.889000|0.889000	0.28282|0.28282	2.030000|2.030000	0.59900|0.59900	0.462000|0.462000	0.41574|0.41574	CAG|TCA		0.502	ZNF45-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459919.1	NM_003425		C	44418134	G	C	44418134	4	2	749	1	0	0	0	0	0	1	0	0	17926	1294	45	4	598	4	ZNF45	19	44418134	Nonsense_Mutation	SNP	G	TCGA-KO-8408-01A-11D-2310-10	5019932	44418134	14710849	134	44063											
RTN2	6253	broad.mit.edu;ucsc.edu;mdanderson.org	37	19	45991752	45991752	+	Missense_Mutation	SNP	G	G	T			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr19:45991752G>T	ENST00000245923.4	-	9	1709	c.1474C>A	c.(1474-1476)Ccc>Acc	p.P492T	PPM1N_ENST00000401705.1_5'Flank|RTN2_ENST00000344680.4_Missense_Mutation_p.P419T|RTN2_ENST00000430715.2_Missense_Mutation_p.P152T|RTN2_ENST00000590526.1_Missense_Mutation_p.P218T	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	492	Reticulon. {ECO:0000255|PROSITE- ProRule:PRU00170}.				cell death (GO:0008219)|intracellular protein transmembrane transport (GO:0065002)|regulation of glucose import (GO:0046324)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		TACAGCAGGGGGATGGTGAAT	0.587																																																0													106	100	102					19																	45991752		2203	4300	6503	SO:0001583	missense	6253			AF038540	CCDS12665.1, CCDS12666.1, CCDS46114.1	19q13.2-q13.3	2012-03-30				ENSG00000125744			10468	protein-coding gene	gene with protein product	"NSP-like protein 1", "Neuroendocrine-specific protein-like 1"	603183	"spastic paraplegia 12 (autosomal dominant)"	SPG12		8812484, 9530622, 22232211	Standard	NM_005619		Approved	NSP2, NSPL1	uc002pcb.4	O75298		ENST00000245923.4:c.1474C>A	19.37:g.45991752G>T	ENSP00000245923:p.Pro492Thr		O60509|Q7RTM6|Q7RTN1|Q7RTN2	Missense_Mutation	SNP	ENST00000245923.4	37	CCDS12665.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.343709	0.82022	.	.	ENSG00000125744	ENST00000344680;ENST00000245923;ENST00000430715	T;T;T	0.77489	-1.1;-1.1;-1.1	5.58	5.58	0.84498	.	0.109289	0.64402	D	0.000005	D	0.88969	0.6582	M	0.86268	2.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.90290	0.4322	10	0.87932	D	0	-14.6183	15.1396	0.72601	0.0:0.0:1.0:0.0	.	419;492	O75298-2;O75298	.;RTN2_HUMAN	T	419;492;152	ENSP00000345127:P419T;ENSP00000245923:P492T;ENSP00000398178:P152T	ENSP00000245923:P492T	P	-	1	0	RTN2	50683592	1.000000	0.71417	0.909000	0.35828	0.883000	0.51084	7.344000	0.79328	2.649000	0.89929	0.650000	0.86243	CCC		0.587	RTN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459574.1	NM_005619		T	45991752	G	T	45991752	3	4	749	1	0	0	0	0	1	0	0	0	13732	1232	43	4	175	4	RTN2	19	45991752	Missense_Mutation	SNP	G	TCGA-KO-8408-01A-11D-2310-10	1573618	45991752	13137231	135	44064											
PLEKHA4	57664	broad.mit.edu	37	19	49340604	49340605	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr19:49340604_49340605insG	ENST00000263265.6	-	20	2836_2837	c.2281_2282insC	c.(2281-2283)ctgfs	p.L761fs	HSD17B14_ENST00000599157.1_5'Flank|PLEKHA4_ENST00000355496.5_3'UTR|HSD17B14_ENST00000263278.4_5'Flank	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	761						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)		GTCTTGTGGCAGGACCGGAGGG	0.663																																																0																																										SO:0001589	frameshift_variant	57664			AY007233	CCDS12737.1, CCDS54291.1	19q13.33	2013-01-10	2002-01-14			ENSG00000105559		"Pleckstrin homology (PH) domain containing"	14339	protein-coding gene	gene with protein product		607769	"pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4"			11001876	Standard	NM_020904		Approved	PEPP1	uc002pkx.3	Q9H4M7		ENST00000263265.6:c.2282dupC	19.37:g.49340606_49340606dupG	ENSP00000263265:p.Leu761fs		Q8N4M8|Q8N658	Frame_Shift_Ins	INS	ENST00000263265.6	37	CCDS12737.1																																																																																				0.663	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466216.1			G	49340605	-	G	49340604	7	5	749	1	0	1	1	0	0	0	0	0	12060	188	7	0	61	0	PLEKHA4	19	49340604	Frame_Shift_Ins	INS	-	TCGA-KO-8408-01A-11D-2310-10	3348852	49340604	9788379	136	44065											
LILRA6	79168	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	19	54744177	54744177	+	Missense_Mutation	SNP	T	T	A			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr19:54744177T>A	ENST00000396365.2	-	6	1270	c.1231A>T	c.(1231-1233)Agt>Tgt	p.S411C	LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000419410.2_Missense_Mutation_p.S411C|LILRA6_ENST00000440558.2_Intron|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000245621.5_Missense_Mutation_p.S411C	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	411					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)		AGGGGCTCACTGGGGAAAGAC	0.637																																																0													90	128	115					19																	54744177		2197	4300	6497	SO:0001583	missense	79168			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.1231A>T	19.37:g.54744177T>A	ENSP00000379651:p.Ser411Cys			Missense_Mutation	SNP	ENST00000396365.2	37	CCDS42610.1	.	.	.	.	.	.	.	.	.	.	T	15.36	2.811295	0.50527	.	.	ENSG00000244482	ENST00000419410;ENST00000421123;ENST00000396365;ENST00000245621	T;T;T	0.01527	4.8;4.8;4.8	2.71	2.71	0.32032	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.42964	D	0.000622	T	0.13500	0.0327	H	0.95850	3.73	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.996;1.0	T	0.00239	-1.1888	10	0.87932	D	0	.	7.1498	0.25604	0.0:0.0:0.0:1.0	.	411;411;411	C9JFH3;Q6PI73;D3YTC4	.;LIRA6_HUMAN;.	C	411	ENSP00000411227:S411C;ENSP00000379651:S411C;ENSP00000245621:S411C	ENSP00000245621:S411C	S	-	1	0	LILRA6	59435989	0.876000	0.30132	0.840000	0.33206	0.013000	0.08279	0.730000	0.26043	1.263000	0.44181	0.164000	0.16699	AGT		0.637	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318		A	54744177	T	A	54744177	3	1	749	1	0	0	0	0	1	0	0	0	8791	1580	55	5	226	5	LILRA6	19	54744177	Missense_Mutation	SNP	T	TCGA-KO-8408-01A-11D-2310-10	5403573	54744177	4384806	137	44066											
CPXM1	56265	broad.mit.edu;mdanderson.org	37	20	2777897	2777897	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr20:2777897G>A	ENST00000380605.2	-	6	837	c.773C>T	c.(772-774)aCc>aTc	p.T258I		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	258	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CTGGAGCCAGGTCTGGGGCAG	0.657																																																0													23	27	26					20																	2777897		2198	4291	6489	SO:0001583	missense	56265			AL035460	CCDS13033.1	20p13	2012-02-10	2006-08-24	2006-08-24	ENSG00000088882	ENSG00000088882			15771	protein-coding gene	gene with protein product	"carboxypeptidase-like protein X1"	609555	"carboxypeptidase X (M14 family)"	CPXM		14702039	Standard	NM_019609		Approved	CPX-1, CPX1	uc002wgu.3	Q96SM3	OTTHUMG00000031706	ENST00000380605.2:c.773C>T	20.37:g.2777897G>A	ENSP00000369979:p.Thr258Ile		Q6P4G8|Q6UW65|Q9NUB5	Missense_Mutation	SNP	ENST00000380605.2	37	CCDS13033.1	.	.	.	.	.	.	.	.	.	.	G	18.82	3.704555	0.68615	.	.	ENSG00000088882	ENST00000380605	D	0.99032	-5.35	4.66	3.7	0.42460	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.115906	0.56097	D	0.000022	D	0.99029	0.9668	M	0.79475	2.455	0.36416	D	0.864022	D;D	0.64830	0.994;0.971	D;P	0.69142	0.962;0.812	D	0.99953	1.1577	10	0.87932	D	0	-13.0559	11.9346	0.52866	0.0:0.0:0.8251:0.1749	.	258;258	Q8N2E1;Q96SM3	.;CPXM1_HUMAN	I	258	ENSP00000369979:T258I	ENSP00000369979:T258I	T	-	2	0	CPXM1	2725897	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	1.649000	0.37281	1.174000	0.42811	0.561000	0.74099	ACC		0.657	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077643.2	NM_019609		A	2777897	G	A	2777897	3	1	749	1	0	0	0	0	1	0	0	0	3839	1261	44	2	1467	2	CPXM1	20	2777897	Missense_Mutation	SNP	G	TCGA-KO-8408-01A-11D-2310-10		2777897	60247623	138	44067											
BTBD3	22903	broad.mit.edu;mdanderson.org;bcgsc.ca	37	20	11903397	11903397	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr20:11903397A>G	ENST00000405977.1	+	5	1277	c.652A>G	c.(652-654)Acc>Gcc	p.T218A	BTBD3_ENST00000254977.3_Missense_Mutation_p.T157A|BTBD3_ENST00000378226.2_Missense_Mutation_p.T218A|BTBD3_ENST00000399006.2_Missense_Mutation_p.T157A|BTBD3_ENST00000488503.1_3'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	218					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						TTTCCTGGAGACCAGCCTGAG	0.542																																																0													105	104	104					20																	11903397		2203	4300	6503	SO:0001583	missense	22903			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.652A>G	20.37:g.11903397A>G	ENSP00000384545:p.Thr218Ala		D3DW19|Q5JY73	Missense_Mutation	SNP	ENST00000405977.1	37	CCDS13113.1	.	.	.	.	.	.	.	.	.	.	A	18.36	3.607351	0.66558	.	.	ENSG00000132640	ENST00000254977;ENST00000399006;ENST00000405977;ENST00000378226;ENST00000455911	T;T;T;T;T	0.21191	2.02;2.02;2.02;2.02;2.02	5.95	5.95	0.96441	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.26231	0.0640	L	0.52823	1.66	0.80722	D	1	P	0.42827	0.791	B	0.43478	0.421	T	0.01757	-1.1280	10	0.24483	T	0.36	.	15.6134	0.76744	1.0:0.0:0.0:0.0	.	218	Q9Y2F9	BTBD3_HUMAN	A	157;157;218;218;107	ENSP00000254977:T157A;ENSP00000381971:T157A;ENSP00000384545:T218A;ENSP00000367471:T218A;ENSP00000408817:T107A	ENSP00000254977:T157A	T	+	1	0	BTBD3	11851397	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.339000	0.96797	2.281000	0.76405	0.528000	0.53228	ACC		0.542	BTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078021.3			G	11903397	A	G	11903397	3	3	749	1	0	0	0	0	1	0	0	0	1546	275	10	3	666	3	BTBD3	20	11903397	Missense_Mutation	SNP	A	TCGA-KO-8408-01A-11D-2310-10	9125500	11903397	51122123	139	44068											
RBBP9	10741	broad.mit.edu	37	20	18477730	18477731	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr20:18477730_18477731insC	ENST00000337227.4	-	1	156_157	c.81_82insG	c.(79-84)gtgaaafs	p.K28fs	RBBP9_ENST00000493184.1_5'UTR	NM_006606.2	NP_006597.2	O75884	RBBP9_HUMAN	retinoblastoma binding protein 9	28					regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|prostate(1)	9						AGCTCCTTTTTCACCCAGCCAT	0.609																																																0																																										SO:0001589	frameshift_variant	10741			AF039564	CCDS13136.1	20p11.2	2008-08-01	2001-11-28		ENSG00000089050	ENSG00000089050			9892	protein-coding gene	gene with protein product		602908	"retinoblastoma-binding protein 9"			9697699, 10449909	Standard	NM_006606		Approved	Bog	uc002wqy.3	O75884	OTTHUMG00000031972	ENST00000337227.4:c.82dupG	20.37:g.18477731_18477731dupC	ENSP00000336866:p.Lys28fs		D3DW31|Q5JPH9|Q9H1D8	Frame_Shift_Ins	INS	ENST00000337227.4	37	CCDS13136.1																																																																																				0.609	RBBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078175.1	NM_006606		C	18477731	-	C	18477730	7	5	749	1	0	1	1	0	0	0	0	0	13112	1792	62	0	498	0	RBBP9	20	18477730	Frame_Shift_Ins	INS	-	TCGA-KO-8408-01A-11D-2310-10	6574333	18477730	44547790	140	44069											
MYLK2	85366	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	20	30408125	30408125	+	Silent	SNP	C	C	T			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr20:30408125C>T	ENST00000375994.2	+	2	522	c.249C>T	c.(247-249)ggC>ggT	p.G83G	MYLK2_ENST00000375985.4_Silent_p.G83G			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	83					cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|neuromuscular synaptic transmission (GO:0007274)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of gene expression (GO:0010628)|protein autophosphorylation (GO:0046777)|regulation of muscle filament sliding (GO:0032971)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle satellite cell differentiation (GO:0014816)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GTGACAGGGGCGGGGGGCCCG	0.662																																																0													21	25	23					20																	30408125		2191	4271	6462	SO:0001819	synonymous_variant	85366			AF325549	CCDS13191.1	20q13.31	2014-09-17	2008-01-23		ENSG00000101306	ENSG00000101306	2.7.11.18		16243	protein-coding gene	gene with protein product	"skeletal muscle myosin light chain kinase"	606566	"myosin light chain kinase 2, skeletal muscle"				Standard	NM_033118		Approved	skMLCK, KMLC, MLCK2	uc002wwq.2	Q9H1R3	OTTHUMG00000032194	ENST00000375994.2:c.249C>T	20.37:g.30408125C>T			Q569L1|Q96I84	Silent	SNP	ENST00000375994.2	37	CCDS13191.1																																																																																				0.662	MYLK2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078583.2	NM_033118		T	30408125	C	T	30408125	2	4	749	1	0	0	0	0	0	0	0	1	10059	755	27	1		1	MYLK2	20	30408125	Silent	SNP	C	TCGA-KO-8408-01A-11D-2310-10	11930395	30408125	32617395	141	44070											
C20orf185	359710	hgsc.bcm.edu;mdanderson.org	37	20	31657702	31657702	+	Silent	SNP	T	T	A			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr20:31657702T>A	ENST00000375494.3	+	11	1158	c.1158T>A	c.(1156-1158)acT>acA	p.T386T		NM_182658.1	NP_872599.1	P59826	BPIB3_HUMAN	BPI fold containing family B, member 3	386					innate immune response (GO:0045087)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										AGGTCATGACTGTGCGTGCCC	0.577																																																0													251	227	235					20																	31657702		2203	4300	6503	SO:0001819	synonymous_variant	359710			AF549189	CCDS13212.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186190	ENSG00000186190		"BPI fold containing"	16178	protein-coding gene	gene with protein product		615717	"chromosome 20 open reading frame 185"	C20orf185		11971875, 21787333	Standard	NM_182658		Approved	dJ726C3.4, LPLUNC3, RYA3	uc002wym.1	P59826	OTTHUMG00000032234	ENST00000375494.3:c.1158T>A	20.37:g.31657702T>A			Q5TDX7	Silent	SNP	ENST00000375494.3	37	CCDS13212.1																																																																																				0.577	BPIFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078654.2	NM_182658		A	31657702	T	A	31657702	2	1	749	1	0	0	0	0	0	0	0	1	2099	1567	55	5		5	C20orf185	20	31657702	Silent	SNP	T	TCGA-KO-8408-01A-11D-2310-10	1249577	31657702	31367818	142	44071											
SEMG2	6407	mdanderson.org;bcgsc.ca	37	20	43851703	43851703	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr20:43851703G>A	ENST00000372769.3	+	2	1520	c.1430G>A	c.(1429-1431)cGa>cAa	p.R477Q		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	477	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction (GO:0019953)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				GAAGAAAGACGACTCAACTAT	0.393																																																0													81	80	81					20																	43851703		2203	4300	6503	SO:0001583	missense	6407				CCDS13346.1	20q12-q13.1	2008-07-02			ENSG00000124157	ENSG00000124157			10743	protein-coding gene	gene with protein product	"Semenogelin 2"	182141				1517240, 9523691	Standard	NM_003008		Approved	SGII	uc002xnk.3	Q02383	OTTHUMG00000032566	ENST00000372769.3:c.1430G>A	20.37:g.43851703G>A	ENSP00000361855:p.Arg477Gln		Q53ZU2|Q6X2M5|Q6X2M6	Missense_Mutation	SNP	ENST00000372769.3	37	CCDS13346.1	.	.	.	.	.	.	.	.	.	.	G	3.240	-0.155535	0.06544	.	.	ENSG00000124157	ENST00000372769	T	0.06608	3.28	1.38	-2.53	0.06326	.	.	.	.	.	T	0.03871	0.0109	L	0.31578	0.945	0.09310	N	1	B;B	0.19331	0.035;0.012	B;B	0.13407	0.009;0.009	T	0.44421	-0.9329	9	0.25106	T	0.35	.	3.6481	0.08192	0.4393:0.3019:0.2588:0.0	.	477;477	A8K6Z6;Q02383	.;SEMG2_HUMAN	Q	477	ENSP00000361855:R477Q	ENSP00000361855:R477Q	R	+	2	0	SEMG2	43285117	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.482000	0.02320	-0.770000	0.04614	-1.960000	0.00479	CGA		0.393	SEMG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079417.1	NM_003008		A	43851703	G	A	43851703	3	1	749	1	0	0	0	0	1	0	0	0	14051	1058	37	1	1436	1	SEMG2	20	43851703	Missense_Mutation	SNP	G	TCGA-KO-8408-01A-11D-2310-10	12194001	43851703	19173817	143	44072											
PREX1	57580	broad.mit.edu	37	20	47307517	47307518	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr20:47307517_47307518insC	ENST00000371941.3	-	9	1175_1176	c.1153_1154insG	c.(1153-1155)gatfs	p.D385fs	PREX1_ENST00000396220.1_Frame_Shift_Ins_p.D385fs	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	385	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)			GATGATGGCATCCAGCCACTTC	0.599																																																0																																										SO:0001589	frameshift_variant	57580			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.1154dupG	20.37:g.47307519_47307519dupC	ENSP00000361009:p.Asp385fs		E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Frame_Shift_Ins	INS	ENST00000371941.3	37	CCDS13410.1																																																																																				0.599	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		C	47307518	-	C	47307517	7	5	749	1	0	1	1	0	0	0	0	0	12481	1435	50	0	3953	0	PREX1	20	47307517	Frame_Shift_Ins	INS	-	TCGA-KO-8408-01A-11D-2310-10	3455814	47307517	15718003	144	44073											
DIDO1	11083	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	20	61513562	61513562	+	Missense_Mutation	SNP	G	G	C			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr20:61513562G>C	ENST00000266070.4	-	16	4071	c.3746C>G	c.(3745-3747)gCa>gGa	p.A1249G	DIDO1_ENST00000395343.1_Missense_Mutation_p.A1249G	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1249					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)					AGCCGCGTCTGCAGAGCAGAG	0.602																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)											0													87	99	95					20																	61513562		2203	4300	6503	SO:0001583	missense	11083			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.3746C>G	20.37:g.61513562G>C	ENSP00000266070:p.Ala1249Gly		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	G	4.977	0.181425	0.09495	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.08370	3.1;3.1	5.22	0.891	0.19224	.	1.466600	0.05113	N	0.489227	T	0.04363	0.0120	N	0.02247	-0.625	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40961	-0.9535	10	0.11485	T	0.65	-6.2548	15.0367	0.71754	0.0788:0.7204:0.2008:0.0	.	1249	Q9BTC0	DIDO1_HUMAN	G	1249	ENSP00000266070:A1249G;ENSP00000378752:A1249G	ENSP00000266070:A1249G	A	-	2	0	DIDO1	60984007	0.030000	0.19436	0.000000	0.03702	0.001000	0.01503	0.325000	0.19628	0.117000	0.18138	-0.300000	0.09419	GCA		0.602	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		C	61513562	G	C	61513562	3	2	749	1	0	0	0	0	1	0	0	0	4524	1319	46	4	2980	4	DIDO1	20	61513562	Missense_Mutation	SNP	G	TCGA-KO-8408-01A-11D-2310-10	14206045	61513562	1511958	145	44074											
ZBTB46	140685	broad.mit.edu;ucsc.edu	37	20	62384061	62384061	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr20:62384061T>C	ENST00000245663.4	-	4	1526	c.1376A>G	c.(1375-1377)gAg>gGg	p.E459G	ZBTB46_ENST00000302995.2_Missense_Mutation_p.E459G|ZBTB46_ENST00000395104.1_Missense_Mutation_p.E459G	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	459					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)					CTTCATGTGCTCGCGCCGCGT	0.697																																																0													57	42	47					20																	62384061		2202	4297	6499	SO:0001583	missense	140685			AK131482	CCDS13538.1	20q13.33	2013-01-08	2006-09-19	2006-09-19	ENSG00000130584	ENSG00000130584		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	16094	protein-coding gene	gene with protein product	"BTB-ZF protein expressed in effector lymphocytes"	614639	"BTB (POZ) domain containing 4"	ZNF340, BTBD4			Standard	NM_025224		Approved	FLJ13502, RINZF, BZEL	uc002ygv.2	Q86UZ6	OTTHUMG00000033001	ENST00000245663.4:c.1376A>G	20.37:g.62384061T>C	ENSP00000245663:p.Glu459Gly		E1P5K9|Q5JWJ3|Q6GMV4|Q9BQK3|Q9H3Z8|Q9H3Z9	Missense_Mutation	SNP	ENST00000245663.4	37	CCDS13538.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.319880	0.81469	.	.	ENSG00000130584	ENST00000245663;ENST00000302995;ENST00000395104	T;T;T	0.14640	2.49;2.49;2.49	4.4	4.4	0.53042	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.144833	0.44902	D	0.000419	T	0.13841	0.0335	N	0.13327	0.33	0.58432	D	0.999998	D	0.56287	0.975	P	0.55161	0.77	T	0.17471	-1.0368	10	0.15952	T	0.53	.	12.838	0.57784	0.0:0.0:0.0:1.0	.	459	Q86UZ6	ZBT46_HUMAN	G	459	ENSP00000245663:E459G;ENSP00000303102:E459G;ENSP00000378536:E459G	ENSP00000245663:E459G	E	-	2	0	ZBTB46	61854505	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	7.826000	0.86716	1.624000	0.50355	0.528000	0.53228	GAG		0.697	ZBTB46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080232.2	NM_025224		C	62384061	T	C	62384061	3	2	749	1	0	0	0	0	1	0	0	0	17552	1551	54	3	401	3	ZBTB46	20	62384061	Missense_Mutation	SNP	T	TCGA-KO-8408-01A-11D-2310-10	870499	62384061	641459	146	44075											
HIRA	7290	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	22	19363305	19363305	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr22:19363305T>C	ENST00000263208.5	-	15	1880	c.1624A>G	c.(1624-1626)Acc>Gcc	p.T542A	HIRA_ENST00000340170.4_Missense_Mutation_p.T542A|HIRA_ENST00000541063.1_Missense_Mutation_p.T498A|HIRA_ENST00000546308.1_Missense_Mutation_p.T498A	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	542	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)					GGAGTAGAGGTAGCATTCATA	0.488																																																0													116	91	100					22																	19363305		2203	4300	6503	SO:0001583	missense	7290			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.1624A>G	22.37:g.19363305T>C	ENSP00000263208:p.Thr542Ala		Q05BU9|Q8IXN2	Missense_Mutation	SNP	ENST00000263208.5	37	CCDS13759.1	.	.	.	.	.	.	.	.	.	.	T	12.90	2.076775	0.36662	.	.	ENSG00000100084	ENST00000340170;ENST00000263208;ENST00000541063;ENST00000539600;ENST00000546308	T;T;T;T	0.71579	-0.35;-0.58;-0.43;-0.39	5.02	2.79	0.32731	.	0.391386	0.27686	N	0.018280	T	0.46464	0.1394	N	0.19112	0.55	0.80722	D	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.11329	0.006;0.001;0.001	T	0.15492	-1.0435	10	0.08837	T	0.75	-10.6408	4.5453	0.12078	0.1398:0.1619:0.0:0.6982	.	498;542;542	F5H4M2;P54198-2;P54198	.;.;HIRA_HUMAN	A	542;542;498;51;498	ENSP00000345350:T542A;ENSP00000263208:T542A;ENSP00000446073:T498A;ENSP00000441870:T498A	ENSP00000263208:T542A	T	-	1	0	HIRA	17743305	1.000000	0.71417	0.998000	0.56505	0.938000	0.57974	2.287000	0.43505	0.349000	0.23975	0.533000	0.62120	ACC		0.488	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316488.2	NM_003325		C	19363305	T	C	19363305	3	2	749	1	0	0	0	0	1	0	0	0	7122	1638	57	3	1473	3	HIRA	22	19363305	Missense_Mutation	SNP	T	TCGA-KO-8408-01A-11D-2310-10		19363305	31941261	147	44076											
YDJC	150223	mdanderson.org	37	22	21982892	21982892	+	Missense_Mutation	SNP	C	C	T	rs2298428	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr22:21982892C>T	ENST00000292778.6	-	5	836	c.787G>A	c.(787-789)Gct>Act	p.A263T	YDJC_ENST00000398873.3_3'UTR	NM_001017964.1	NP_001017964.1	A8MPS7	YDJC_HUMAN	YdjC homolog (bacterial)	263			A -> T (in dbSNP:rs2298428).		carbohydrate metabolic process (GO:0005975)		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)					Colorectal(54;0.105)					CAAGAGAAAGCGTCGGGGCCT	0.701													C|||	1126	0.22484	0.0227	0.3631	5008	,	,		11576	0.4117		0.1769	False		,,,				2504	0.2566															0								C	THR/ALA	218,4160		4,210,1975	13	14	13	http://www.ncbi.nlm.nih.gov/pubmed?term	787	4.3	0.7	22	dbSNP_100	13	1582,6978		142,1298,2840	yes	missense	YDJC	NM_001017964.1	58	146,1508,4815	TT,TC,CC	http://www.ncbi.nlm.nih.gov/pubmed?term	18.4813,4.9794,13.9125	benign	263/324	21982892	1800,11138	2189	4280	6469	SO:0001583	missense	150223				CCDS33613.1	22q11.21	2008-02-26			ENSG00000161179	ENSG00000161179			27158	protein-coding gene	gene with protein product						18177738	Standard	XM_005261347		Approved		uc002zvb.2	A8MPS7	OTTHUMG00000150822	ENST00000292778.6:c.787G>A	22.37:g.21982892C>T	ENSP00000292778:p.Ala263Thr		Q2YDT4|Q4V9R7	Missense_Mutation	SNP	ENST00000292778.6	37	CCDS33613.1	495	0.22664835164835165	20	0.04065040650406504	115	0.31767955801104975	223	0.38986013986013984	137	0.18073878627968337	C	24.5	4.541910	0.85917	0.049794	0.184813	ENSG00000161179	ENST00000292778	T	0.42131	0.98	4.32	4.32	0.51571	Polysaccharide deacetylase (1);	0.104489	0.64402	D	0.000007	T	0.00012	0.0000	L	0.54323	1.7	0.09310	P	1.0	P	0.46784	0.884	B	0.39068	0.289	T	0.47368	-0.9123	9	0.13470	T	0.59	-16.7508	14.3921	0.66986	0.0:1.0:0.0:0.0	rs2298428;rs52827392;rs56745961;rs2298428	263	A8MPS7	YDJC_HUMAN	T	263	ENSP00000292778:A263T	ENSP00000292778:A263T	A	-	1	0	YDJC	20312892	1.000000	0.71417	0.677000	0.29947	0.942000	0.58702	7.032000	0.76498	2.245000	0.73994	0.650000	0.86243	GCT		0.701	YDJC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320213.1			T	21982892	C	T	21982892	3	4	749	1	0	0	0	0	1	0	0	0	17476	768	27	1	188	1	YDJC	22	21982892	Missense_Mutation	SNP	C	TCGA-KO-8408-01A-11D-2310-10	2619587	21982892	29321674	148	44077											
RHBDD3	25807	broad.mit.edu	37	22	29661514	29661515	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr22:29661514_29661515insC	ENST00000216085.7	-	3	525_526	c.101_102insG	c.(100-102)ggcfs	p.G34fs	EWSR1_ENST00000332050.6_5'Flank|EWSR1_ENST00000406548.1_5'Flank|EWSR1_ENST00000397938.2_5'Flank|EWSR1_ENST00000333395.6_5'Flank|EWSR1_ENST00000414183.2_5'Flank|EWSR1_ENST00000332035.6_5'Flank|EWSR1_ENST00000331029.7_5'Flank	NM_012265.1	NP_036397.1	Q9Y3P4	RHBD3_HUMAN	rhomboid domain containing 3	34					liver development (GO:0001889)|MAPK cascade (GO:0000165)|negative regulation of natural killer cell activation (GO:0032815)|positive regulation of protein catabolic process (GO:0045732)|regulation of acute inflammatory response (GO:0002673)|regulation of protein secretion (GO:0050708)|response to xenobiotic stimulus (GO:0009410)	integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			lung(1)|ovary(1)	2						CCAGGCCGGGGCCGGCCCCCAC	0.683																																																0																																										SO:0001589	frameshift_variant	25807			AL050346	CCDS13850.1	22q12.2	2006-02-22	2006-02-22	2006-02-22	ENSG00000100263	ENSG00000100263			1308	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 3"	C22orf3		10591208, 15105437	Standard	NM_012265		Approved	PTAG	uc003aeq.1	Q9Y3P4	OTTHUMG00000151032	ENST00000216085.7:c.102dupG	22.37:g.29661516_29661516dupC	ENSP00000216085:p.Gly34fs		Q6I9X3|Q9UGQ7	Frame_Shift_Ins	INS	ENST00000216085.7	37	CCDS13850.1																																																																																				0.683	RHBDD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321085.1	NM_012265		C	29661515	-	C	29661514	7	5	749	1	0	1	1	0	0	0	0	0	13324	1190	42	0	1078	0	RHBDD3	22	29661514	Frame_Shift_Ins	INS	-	TCGA-KO-8408-01A-11D-2310-10	7678622	29661514	21643052	149	44078											
CSF2RB	1439	broad.mit.edu;mdanderson.org;bcgsc.ca	37	22	37326788	37326788	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr22:37326788G>A	ENST00000403662.3	+	8	1150	c.928G>A	c.(928-930)Gtg>Atg	p.V310M	CSF2RB_ENST00000262825.5_Missense_Mutation_p.V316M|CSF2RB_ENST00000406230.1_Missense_Mutation_p.V316M|CSF2RB_ENST00000536485.1_Missense_Mutation_p.V257M			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	310					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)	CCAGATTCCCGTGCCCGACCC	0.607																																																0													67	56	60					22																	37326788		2203	4300	6503	SO:0001583	missense	1439			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.928G>A	22.37:g.37326788G>A	ENSP00000384053:p.Val310Met		Q5JZI1|Q6ICE0	Missense_Mutation	SNP	ENST00000403662.3	37	CCDS13936.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.013073	0.75161	.	.	ENSG00000100368	ENST00000403662;ENST00000539104;ENST00000262825;ENST00000406230;ENST00000536485	T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24	5.36	5.36	0.76844	Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.376195	0.19117	N	0.122286	T	0.81250	0.4783	M	0.76002	2.32	0.36748	D	0.88257	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.82979	-0.0188	10	0.38643	T	0.18	-28.2247	16.0129	0.80417	0.0:0.0:1.0:0.0	.	316;310	P32927-2;P32927	.;IL3RB_HUMAN	M	310;310;316;316;257	ENSP00000384053:V310M;ENSP00000262825:V316M;ENSP00000385271:V316M;ENSP00000440003:V257M	ENSP00000262825:V316M	V	+	1	0	CSF2RB	35656734	0.994000	0.37717	0.268000	0.24571	0.019000	0.09904	3.867000	0.56047	2.506000	0.84524	0.462000	0.41574	GTG		0.607	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318854.1	NM_000395		A	37326788	G	A	37326788	3	1	749	1	0	0	0	0	1	0	0	0	3937	1145	40	1	954	1	CSF2RB	22	37326788	Missense_Mutation	SNP	G	TCGA-KO-8408-01A-11D-2310-10	7665274	37326788	13977778	150	44079											
SAPS2	9701	ucsc.edu;mdanderson.org;bcgsc.ca	37	22	50832465	50832465	+	Missense_Mutation	SNP	A	A	T			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr22:50832465A>T	ENST00000216061.5	+	4	498	c.128A>T	c.(127-129)aAg>aTg	p.K43M	PPP6R2_ENST00000359139.3_Missense_Mutation_p.K43M|PPP6R2_ENST00000395744.3_Missense_Mutation_p.K43M|PPP6R2_ENST00000395741.3_Missense_Mutation_p.K43M			O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	43						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						CAGAACCAGAAGCTGCTGGAC	0.552																																																0													162	145	150					22																	50832465		2203	4300	6503	SO:0001583	missense	9701			AB014585	CCDS33681.1, CCDS56235.1, CCDS56236.1, CCDS74881.1	22q13.33	2012-04-17	2010-06-28	2010-06-28	ENSG00000100239	ENSG00000100239		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"	19253	protein-coding gene	gene with protein product		610877	"KIAA0685", "SAPS domain family, member 2"	KIAA0685, SAPS2		16769727	Standard	NM_014678		Approved	dJ579N16.1, SAP190	uc003blc.3	O75170	OTTHUMG00000150199	ENST00000216061.5:c.128A>T	22.37:g.50832465A>T	ENSP00000216061:p.Lys43Met		A6PVG3|B7Z7T3|Q5U5P3|Q7Z2L2|Q7Z5G5|Q7Z731|Q9UGB9	Missense_Mutation	SNP	ENST00000216061.5	37		.	.	.	.	.	.	.	.	.	.	A	19.01	3.744168	0.69418	.	.	ENSG00000100239	ENST00000359139;ENST00000395741;ENST00000395744;ENST00000216061	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.43	3.32	0.38043	.	0.166665	0.49305	D	0.000158	T	0.64227	0.2579	M	0.79123	2.44	0.38371	D	0.944877	D;D;D;D;D	0.89917	0.999;0.998;1.0;0.999;1.0	D;P;D;D;D	0.75484	0.957;0.906;0.986;0.957;0.986	T	0.67868	-0.5559	10	0.87932	D	0	-27.622	7.1525	0.25618	0.7508:0.0:0.2492:0.0	.	43;43;43;43;43	O75170-5;O75170;O75170-3;O75170-4;O75170-2	.;PP6R2_HUMAN;.;.;.	M	43	ENSP00000352051:K43M;ENSP00000379090:K43M;ENSP00000379093:K43M;ENSP00000216061:K43M	ENSP00000216061:K43M	K	+	2	0	PPP6R2	49179331	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.829000	0.48128	0.898000	0.36418	0.477000	0.44152	AAG		0.552	PPP6R2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316809.1	NM_014678		T	50832465	A	T	50832465	3	4	749	1	0	0	0	0	1	0	0	0	13843	72	3	5	130	5	SAPS2	22	50832465	Missense_Mutation	SNP	A	TCGA-KO-8408-01A-11D-2310-10	13505677	50832465	472101	151	44080											
CXorf21	80231	broad.mit.edu;mdanderson.org	37	X	30577710	30577710	+	Missense_Mutation	SNP	G	G	C			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chrX:30577710G>C	ENST00000378962.3	-	3	1085	c.763C>G	c.(763-765)Caa>Gaa	p.Q255E		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	255										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						CTAGACACTTGAAGACTGATT	0.403																																																0													99	88	92					X																	30577710		2202	4300	6502	SO:0001583	missense	80231			BC020611	CCDS14224.1	Xp21.3	2006-04-12			ENSG00000120280	ENSG00000120280			25667	protein-coding gene	gene with protein product						12477932	Standard	NM_025159		Approved	FLJ11577	uc004dcg.2	Q9HAI6	OTTHUMG00000021325	ENST00000378962.3:c.763C>G	X.37:g.30577710G>C	ENSP00000368245:p.Gln255Glu			Missense_Mutation	SNP	ENST00000378962.3	37	CCDS14224.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.313179	0.40895	.	.	ENSG00000120280	ENST00000378962	.	.	.	5.11	4.21	0.49690	.	0.067962	0.64402	D	0.000012	T	0.52917	0.1764	M	0.74881	2.28	0.40146	D	0.976898	P	0.39480	0.675	B	0.29785	0.107	T	0.65389	-0.6180	9	0.72032	D	0.01	-7.5846	12.7882	0.57518	0.0:0.0:0.7183:0.2817	.	255	Q9HAI6	CX021_HUMAN	E	255	.	ENSP00000368245:Q255E	Q	-	1	0	CXorf21	30487631	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.931000	0.70113	2.351000	0.79841	0.513000	0.50165	CAA		0.403	CXorf21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056164.1	NM_025159		C	30577710	G	C	30577710	3	2	749	1	0	0	0	0	1	0	0	0	4103	1299	45	4	146	4	CXorf21	23	30577710	Missense_Mutation	SNP	G	TCGA-KO-8408-01A-11D-2310-10		30577710	124692850	152	44081											
ATRX	546	broad.mit.edu;hgsc.bcm.edu	37	X	76937378	76937378	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chrX:76937378delA	ENST00000373344.5	-	9	3584	c.3370delT	c.(3370-3372)tctfs	p.S1125fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.S1087fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1125					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						TTATCAGAAGAGTTACAACCA	0.343			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																																Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)											79	83	82					X																	76937378		2203	4291	6494	SO:0001589	frameshift_variant	546			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.3370delT	X.37:g.76937378delA	ENSP00000362441:p.Ser1125fs		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	CCDS14434.1																																																																																				0.343	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		-	76937378	A	-	76937378	7	5	749	1	0	1	0	1	0	0	0	0	1208	304	11	0	4216	0	ATRX	23	76937378	Frame_Shift_Del	DEL	A	TCGA-KO-8408-01A-11D-2310-10	46359668	76937378	78333182	153	44082	447	2									
ATRX	546	bcgsc.ca	37	X	76937379	76937379	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chrX:76937379delA	ENST00000373344.5	-	9	3583	c.3369delT	c.(3367-3369)aatfs	p.N1123fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.N1085fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1123					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						TATCAGAAGAGTTACAACCAT	0.343			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																																Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)											79	83	82					X																	76937379		2203	4292	6495	SO:0001589	frameshift_variant	546			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.3369delT	X.37:g.76937379delA	ENSP00000362441:p.Asn1123fs		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	CCDS14434.1																																																																																				0.343	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		-	76937379	A	-	76937379	7	5	749	1	0	1	0	1	0	0	0	0	1208	1020	36	0	4217	0	ATRX	23	76937379	Frame_Shift_Del	DEL	A	TCGA-KO-8408-01A-11D-2310-10	1	76937379	78333181	154	44083	447	2									
ATP7A	538	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	X	77275864	77275864	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chrX:77275864T>C	ENST00000341514.6	+	13	2905	c.2750T>C	c.(2749-2751)gTc>gCc	p.V917A	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Missense_Mutation_p.V839A	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	917					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)	TCTCAAATTGTCAAACTTGTG	0.418																																																0													104	91	95					X																	77275864		2203	4296	6499	SO:0001583	missense	538			L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"ATPases / P-type"	869	protein-coding gene	gene with protein product	"copper pump 1", "copper-transporting ATPase 1"	300011	"Menkes syndrome"	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.2750T>C	X.37:g.77275864T>C	ENSP00000345728:p.Val917Ala		B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	ENST00000341514.6	37	CCDS35339.1	.	.	.	.	.	.	.	.	.	.	T	27.9	4.868876	0.91587	.	.	ENSG00000165240	ENST00000343533;ENST00000341514	D;D	0.88509	-2.39;-2.39	5.83	5.83	0.93111	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.91945	0.7449	L	0.43598	1.365	0.80722	D	1	D	0.67145	0.996	D	0.71656	0.974	D	0.92826	0.6276	10	0.87932	D	0	2.33	15.1442	0.72637	0.0:0.0:0.0:1.0	.	917	Q04656	ATP7A_HUMAN	A	839;917	ENSP00000343026:V839A;ENSP00000345728:V917A	ENSP00000345728:V917A	V	+	2	0	ATP7A	77162520	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	8.038000	0.88943	1.960000	0.56953	0.441000	0.28932	GTC		0.418	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052		C	77275864	T	C	77275864	3	2	749	1	0	0	0	0	1	0	0	0	1190	1667	58	3	2796	3	ATP7A	23	77275864	Missense_Mutation	SNP	T	TCGA-KO-8408-01A-11D-2310-10	338485	77275864	77994696	155	44084											
SYTL4	94121	broad.mit.edu	37	X	99942167	99942168	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chrX:99942167_99942168insA	ENST00000372989.1	-	13	1411_1412	c.1080_1081insT	c.(1078-1083)attgccfs	p.A361fs	SYTL4_ENST00000276141.6_Frame_Shift_Ins_p.A361fs|SYTL4_ENST00000454200.2_Frame_Shift_Ins_p.A363fs|SYTL4_ENST00000455616.1_Frame_Shift_Ins_p.A361fs|SYTL4_ENST00000263033.5_Frame_Shift_Ins_p.A361fs|SYTL4_ENST00000372981.1_3'UTR	NM_080737.2	NP_542775.2	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	361	C2 1. {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)"	AGGGAAAAGGCAATCCTGCCAG	0.495																																																0																																										SO:0001589	frameshift_variant	94121				CCDS14472.1	Xq21.33	2008-07-31	2008-07-31		ENSG00000102362	ENSG00000102362			15588	protein-coding gene	gene with protein product	"granuphilin-a", "exophilin-2"	300723					Standard	NM_080737		Approved		uc010nnc.3	Q96C24	OTTHUMG00000022004	ENST00000372989.1:c.1081dupT	X.37:g.99942169_99942169dupA	ENSP00000362080:p.Ala361fs		Q5H9J3|Q5JPG8|Q8N9P4|Q9H4R0|Q9H4R1	Frame_Shift_Ins	INS	ENST00000372989.1	37	CCDS14472.1																																																																																				0.495	SYTL4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057488.1	NM_080737		A	99942168	-	A	99942167	7	5	749	1	0	1	1	0	0	0	0	0	15490	710	25	0	962	0	SYTL4	23	99942167	Frame_Shift_Ins	INS	-	TCGA-KO-8408-01A-11D-2310-10	22666303	99942167	55328393	156	44085											
HCFC1	3054	broad.mit.edu;mdanderson.org;bcgsc.ca	37	X	153230057	153230057	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chrX:153230057T>C	ENST00000310441.7	-	2	1280	c.314A>G	c.(313-315)aAa>aGa	p.K105R	HCFC1_ENST00000461098.1_5'Flank|HCFC1_ENST00000354233.3_Missense_Mutation_p.K105R|HCFC1_ENST00000369984.4_Missense_Mutation_p.K105R	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	105					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)					ATTGCTGTATTTCCCATACTC	0.587																																																0													172	181	178					X																	153230057		2182	4253	6435	SO:0001583	missense	3054				CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"VP16-accessory protein", "protein phosphatase 1, regulatory subunit 89"	300019	"mental retardation, X-linked 3", "host cell factor C1 (VP16-accessory protein)"	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.314A>G	X.37:g.153230057T>C	ENSP00000309555:p.Lys105Arg		Q6P4G5	Missense_Mutation	SNP	ENST00000310441.7	37	CCDS44020.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.426077	0.83667	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.43688	0.94;0.94;0.94	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.42177	0.1191	N	0.20845	0.615	0.58432	D	0.999997	B	0.23316	0.083	B	0.43274	0.414	T	0.47787	-0.9090	10	0.62326	D	0.03	.	13.4587	0.61214	0.0:0.0:0.0:1.0	.	105	P51610	HCFC1_HUMAN	R	105	ENSP00000309555:K105R;ENSP00000359001:K105R;ENSP00000346174:K105R	ENSP00000309555:K105R	K	-	2	0	HCFC1	152883251	1.000000	0.71417	0.999000	0.59377	0.964000	0.63967	3.887000	0.56197	1.821000	0.53095	0.381000	0.24937	AAA		0.587	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		C	153230057	T	C	153230057	3	2	749	1	0	0	0	0	1	0	0	0	6993	1841	64	3	5893	3	HCFC1	23	153230057	Missense_Mutation	SNP	T	TCGA-KO-8408-01A-11D-2310-10	53287890	153230057	2040503	157	44086											
ARHGEF10L	55160	mdanderson.org	37	1	18023690	18023690	+	Missense_Mutation	SNP	A	A	G	rs2270976	byFrequency	TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr1:18023690A>G	ENST00000361221.3	+	29	3814	c.3655A>G	c.(3655-3657)Atc>Gtc	p.I1219V	ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.I992V|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.I1180V|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.I1180V|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.I922V	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	1219			I -> V (in dbSNP:rs2270976). {ECO:0000269|PubMed:10997877, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16112081}.			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)		CGACCCCGACATCTGGGTGCG	0.682													G|||	4120	0.822684	0.6694	0.8746	5008	,	,		15288	0.8988		0.8211	False		,,,				2504	0.9162															0								G	VAL/ILE,VAL/ILE	3132,1254		1149,834,210	18	19	19		3538,3655	3	1	1	dbSNP_100	19	7157,1397		3009,1139,129	yes	missense,missense	ARHGEF10L	NM_001011722.2,NM_018125.3	29,29	4158,1973,339	GG,GA,AA		16.3315,28.591,20.4869	benign,benign	1180/1241,1219/1280	18023690	10289,2651	2193	4277	6470	SO:0001583	missense	55160			AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"Rho guanine nucleotide exchange factors"	25540	protein-coding gene	gene with protein product	"GrinchGEF"	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.3655A>G	1.37:g.18023690A>G	ENSP00000355060:p.Ile1219Val		B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Missense_Mutation	SNP	ENST00000361221.3	37	CCDS182.1	1772	0.8113553113553114	333	0.676829268292683	314	0.8674033149171271	513	0.8968531468531469	612	0.8073878627968337	G	2.988	-0.208717	0.06140	0.71409	0.836685	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000375415;ENST00000375408;ENST00000167825	T;T;T;T;T	0.58210	0.63;0.62;0.62;0.35;2.61	4.89	2.98	0.34508	.	0.331575	0.27787	N	0.017853	T	0.00012	0.0000	N	0.02697	-0.525	0.80722	P	0.0	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.001;0.001;0.001;0.001;0.001	T	0.41270	-0.9518	9	0.02654	T	1	-19.6777	7.746	0.28869	0.2723:0.0:0.7277:0.0	rs2270976;rs59534978;rs2270976	992;922;1175;1180;1219	Q5VXI4;Q9HCE6-4;Q9HCE6-3;Q9HCE6-2;Q9HCE6	.;.;.;.;ARGAL_HUMAN	V	1219;1180;1180;992;922	ENSP00000355060:I1219V;ENSP00000399401:I1180V;ENSP00000364564:I1180V;ENSP00000364557:I992V;ENSP00000167825:I922V	ENSP00000167825:I922V	I	+	1	0	ARHGEF10L	17896277	0.236000	0.23804	1.000000	0.80357	0.993000	0.82548	0.608000	0.24223	0.461000	0.27071	-0.119000	0.15052	ATC		0.682	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125		G	18023690	A	G	18023690	3	3	750	1	0	0	0	0	1	0	0	0	895	217	8	3	3765	3	ARHGEF10L	1	18023690	Missense_Mutation	SNP	A	TCGA-KO-8409-01A-11D-2310-10		18023690	231226931	1	44087											
KIF17	57576	broad.mit.edu;mdanderson.org	37	1	21014271	21014271	+	Silent	SNP	C	C	T			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr1:21014271C>T	ENST00000247986.2	-	8	1858	c.1548G>A	c.(1546-1548)caG>caA	p.Q516Q	KIF17_ENST00000375044.1_Silent_p.Q416Q|KIF17_ENST00000490034.1_Intron|KIF17_ENST00000400463.3_Silent_p.Q516Q			Q9P2E2	KIF17_HUMAN	kinesin family member 17	516					ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TGGAGGAAACCTGAGTCTTGG	0.542																																																0													83	80	81					1																	21014271		2203	4300	6503	SO:0001819	synonymous_variant	57576			AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"Kinesins"	19167	protein-coding gene	gene with protein product	"kinesin-like protein KIF17", "KIF3-related motor protein", "KIF17 variant protein"	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.1548G>A	1.37:g.21014271C>T			A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Silent	SNP	ENST00000247986.2	37	CCDS213.1																																																																																				0.542	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816		T	21014271	C	T	21014271	2	4	750	1	0	0	0	0	0	0	0	1	8281	680	24	2		2	KIF17	1	21014271	Silent	SNP	C	TCGA-KO-8409-01A-11D-2310-10	2990581	21014271	228236350	2	44088											
RBMXL1	494115	mdanderson.org	37	1	89449141	89449141	+	Silent	SNP	A	A	G			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr1:89449141A>G	ENST00000321792.5	-	2	796	c.369T>C	c.(367-369)ccT>ccC	p.P123P	CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000370491.3_Intron|RBMXL1_ENST00000399794.2_Silent_p.P123P|CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000446900.2_Intron|RBMXL1_ENST00000413769.1_5'UTR	NM_019610.5	NP_062556.2	Q96E39	RMXL1_HUMAN	RNA binding motif protein, X-linked-like 1	123					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)										CTCCTCGTGAAGGAGGTCCCC	0.512																																																0													104	112	110					1																	89449141		2203	4300	6503	SO:0001819	synonymous_variant	494115			BC012942	CCDS716.1	1p22.2	2013-02-12	2007-01-04	2007-01-04	ENSG00000213516	ENSG00000213516		"RNA binding motif (RRM) containing"	25073	protein-coding gene	gene with protein product	"kynurenine aminotransferase III"					10441733	Standard	NM_019610		Approved	KAT3	uc001dms.3	Q96E39	OTTHUMG00000010661	ENST00000321792.5:c.369T>C	1.37:g.89449141A>G				Silent	SNP	ENST00000321792.5	37	CCDS716.1																																																																																				0.512	RBMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029403.3	NM_019610		G	89449141	A	G	89449141	2	3	750	1	0	0	0	0	0	0	0	1	13159	59	3	3		3	RBMXL1	1	89449141	Silent	SNP	A	TCGA-KO-8409-01A-11D-2310-10	68434870	89449141	159801480	3	44089											
VANGL1	81839	broad.mit.edu	37	1	116226629	116226630	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr1:116226629_116226630insA	ENST00000355485.2	+	6	1282_1283	c.1011_1012insA	c.(1012-1014)tcafs	p.S338fs	VANGL1_ENST00000369509.1_Frame_Shift_Ins_p.S338fs|VANGL1_ENST00000474344.1_3'UTR|VANGL1_ENST00000310260.3_Frame_Shift_Ins_p.S338fs|VANGL1_ENST00000369510.4_Frame_Shift_Ins_p.S336fs	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	338					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-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)		GGCGCAGGGACTCAAGCCACAA	0.52																																																0																																										SO:0001589	frameshift_variant	81839			AB075805	CCDS883.1, CCDS53350.1	1p13.1	2013-03-05	2013-03-05		ENSG00000173218	ENSG00000173218			15512	protein-coding gene	gene with protein product		610132	"vang (van gogh, Drosophila)-like 1, vang, van gogh-like 1 (Drosophila)", "vang-like 1 (van gogh, Drosophila)"			11956595, 12011995	Standard	NM_001172411		Approved	STB2	uc001efv.1	Q8TAA9	OTTHUMG00000011971	Exception_encountered	1.37:g.116226629_116226630insA	ENSP00000347672:p.Ser338fs		Q5T1D3|Q5T1D4|Q86WG8|Q8N559	Frame_Shift_Ins	INS	ENST00000355485.2	37	CCDS883.1																																																																																				0.52	VANGL1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033096.1			A	116226630	-	A	116226629	7	5	750	1	0	1	1	0	0	0	0	0	17124	564	20	0	1029	0	VANGL1	1	116226629	Frame_Shift_Ins	INS	-	TCGA-KO-8409-01A-11D-2310-10	26777488	116226629	133023992	4	44090											
IGSF3	3321	mdanderson.org	37	1	117158772	117158772	+	Silent	SNP	C	C	T			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr1:117158772C>T	ENST00000369486.3	-	3	1116	c.351G>A	c.(349-351)gaG>gaA	p.E117E	IGSF3_ENST00000318837.6_Silent_p.E117E|IGSF3_ENST00000369483.1_Silent_p.E117E	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	117	Ig-like C2-type 1.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.E117E(2)		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)		GGCATTCATACTCCCCGGCAT	0.527																																																2	Substitution - coding silent(2)	endometrium(2)											56	51	53					1																	117158772		2203	4300	6503	SO:0001819	synonymous_variant	3321			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.351G>A	1.37:g.117158772C>T			A6NJZ6|A6NMC7	Silent	SNP	ENST00000369486.3	37	CCDS30813.1																																																																																				0.527	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		T	117158772	C	T	117158772	2	4	750	1	0	0	0	0	0	0	0	1	7603	564	20	2		2	IGSF3	1	117158772	Silent	SNP	C	TCGA-KO-8409-01A-11D-2310-10	932143	117158772	132091849	5	44091											
NBPF14	25832	mdanderson.org	37	1	148004733	148004733	+	Missense_Mutation	SNP	T	T	C	rs78149412	byFrequency	TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr1:148004733T>C	ENST00000369219.1	-	22	2597	c.2581A>G	c.(2581-2583)Ata>Gta	p.I861V				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	861	NBPF 10. {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)					GAATAACATATATCCAGTGAG	0.443													-|||	115	0.0229633	0.0741	0.0072	5008	,	,		21040	0.0		0.008	False		,,,				2504	0.0041															0													136	204	182					1																	148004733		1971	4174	6145	SO:0001583	missense	25832			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.2581A>G	1.37:g.148004733T>C	ENSP00000358221:p.Ile861Val		Q5TI23|Q8IX76|Q9UJI9	Missense_Mutation	SNP	ENST00000369219.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	0.096|0.096	-1.159114|-1.159114	0.01686|0.01686	.|.	.|.	ENSG00000122497|ENSG00000122497	ENST00000310701|ENST00000369219;ENST00000369368	.|T	.|0.05786	.|3.39	.|.	.|.	.|.	.|DUF1220 (2);	.|.	.|.	.|.	.|.	T|T	0.00666|0.00666	0.0022|0.0022	N|N	0.02011|0.02011	-0.69|-0.69	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.14012	.|0.0;0.009;0.005	.|B;B;B	.|0.11329	.|0.001;0.006;0.006	T|T	0.46442|0.46442	-0.9191|-0.9191	3|7	.|0.51188	.|T	.|0.08	.|.	.|.	.|.	.|.	.|.	.|209;842;861	.|F8WEX8;B4DH59;Q5TI25	.|.;.;NBPFE_HUMAN	M|V	866|861;209	.|ENSP00000358221:I861V	.|ENSP00000358221:I861V	I|I	-|-	3|1	3|0	NBPF14|NBPF14	146471357|146471357	0.689000|0.689000	0.27690|0.27690	0.004000|0.004000	0.12327|0.12327	0.022000|0.022000	0.10575|0.10575	-0.736000|-0.736000	0.04882|0.04882	-0.512000|-0.512000	0.06505|0.06505	0.055000|0.055000	0.15244|0.15244	ATA|ATA		0.443	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_015383		C	148004733	T	C	148004733	3	2	750	1	0	0	0	0	1	0	0	0	10196	1406	49	3	188	3	NBPF14	1	148004733	Missense_Mutation	SNP	T	TCGA-KO-8409-01A-11D-2310-10	30845961	148004733	101245888	6	44092											
PKLR	5313	broad.mit.edu	37	1	155270047	155270048	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr1:155270047_155270048insC	ENST00000342741.4	-	2	162_163	c.124_125insG	c.(124-126)gccfs	p.A42fs	PKLR_ENST00000392414.3_Frame_Shift_Ins_p.A11fs	NM_000298.5	NP_000289.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	42					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)	GGCCACACTGGCCCGCCGCAGA	0.629																																																0																																										SO:0001589	frameshift_variant	5313			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.125dupG	1.37:g.155270050_155270050dupC	ENSP00000339933:p.Ala42fs		O75758|P11973	Frame_Shift_Ins	INS	ENST00000342741.4	37	CCDS1109.1																																																																																				0.629	PKLR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000087407.2	NM_000298		C	155270048	-	C	155270047	7	5	750	1	0	1	1	0	0	0	0	0	11978	1203	42	0	1639	0	PKLR	1	155270047	Frame_Shift_Ins	INS	-	TCGA-KO-8409-01A-11D-2310-10	7265314	155270047	93980574	7	44093											
HDGF	3068	ucsc.edu	37	1	156721154	156721154	+	Missense_Mutation	SNP	T	T	G			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr1:156721154T>G	ENST00000357325.5	-	1	382	c.68A>C	c.(67-69)tAc>tCc	p.Y23S	HDGF_ENST00000416666.2_5'Flank|HDGF_ENST00000465180.1_Intron|HDGF_ENST00000368209.5_Intron|HDGF_ENST00000537739.1_Missense_Mutation_p.Y23S|PRCC_ENST00000491853.1_Intron|HDGF_ENST00000368206.5_Intron	NM_004494.2	NP_004485.1	P51858	HDGF_HUMAN	hepatoma-derived growth factor	23	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription corepressor binding (GO:0001222)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)		Colorectal(1306;0.018)		CCAGTGTGGGTAGCCCTTCAT	0.721																																																0													37	36	36					1																	156721154		2203	4299	6502	SO:0001583	missense	3068			D16431	CCDS1156.1, CCDS44247.1, CCDS44248.1	1q23.1	2013-10-14	2010-03-19		ENSG00000143321	ENSG00000143321			4856	protein-coding gene	gene with protein product	"high-mobility group protein 1-like"	600339	"hepatoma-derived growth factor (high-mobility group protein 1-like)"			8833162	Standard	NM_004494		Approved	HMG1L2	uc001fpy.4	P51858	OTTHUMG00000041295	ENST00000357325.5:c.68A>C	1.37:g.156721154T>G	ENSP00000349878:p.Tyr23Ser		B3KU21|D3DVC9|Q5SZ07|Q5SZ08|Q5SZ09	Missense_Mutation	SNP	ENST00000357325.5	37	CCDS1156.1	.	.	.	.	.	.	.	.	.	.	T	14.93	2.681376	0.47991	.	.	ENSG00000143321	ENST00000357325;ENST00000537739;ENST00000406805	T;T	0.74002	-0.8;-0.8	3.63	2.45	0.29901	PWWP (3);	.	.	.	.	T	0.79799	0.4508	M	0.86268	2.805	0.80722	D	1	P;D	0.67145	0.944;0.996	D;D	0.70227	0.968;0.957	T	0.80020	-0.1557	9	0.87932	D	0	.	7.5044	0.27536	0.1928:0.0:0.0:0.8072	.	23;23	B2RDE8;P51858	.;HDGF_HUMAN	S	23	ENSP00000349878:Y23S;ENSP00000443120:Y23S	ENSP00000349878:Y23S	Y	-	2	0	HDGF	154987778	1.000000	0.71417	1.000000	0.80357	0.040000	0.13550	5.215000	0.65241	0.374000	0.24650	0.477000	0.44152	TAC		0.721	HDGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098946.1	NM_004494		G	156721154	T	G	156721154	3	3	750	1	0	0	0	0	1	0	0	0	7020	1638	57	5	678	5	HDGF	1	156721154	Missense_Mutation	SNP	T	TCGA-KO-8409-01A-11D-2310-10	1451107	156721154	92529467	8	44094											
C1orf198	84886	ucsc.edu	37	1	231004156	231004156	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr1:231004156A>G	ENST00000366663.5	-	1	243	c.103T>C	c.(103-105)Tcg>Ccg	p.S35P	C1orf198_ENST00000470540.1_Intron|C1orf198_ENST00000427697.2_Intron	NM_032800.2	NP_116189.1	Q9H425	CA198_HUMAN	chromosome 1 open reading frame 198	35						cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	17	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				GGGCTCAGCGACGAGAAGTAA	0.682																																																0													22	27	26					1																	231004156		2202	4300	6502	SO:0001583	missense	84886			BC066649	CCDS1587.1, CCDS44330.1, CCDS44331.1	1q42.2	2008-02-05			ENSG00000119280	ENSG00000119280			25900	protein-coding gene	gene with protein product							Standard	NM_032800		Approved	FLJ14525, MGC10710, FLJ16283, DKFZp667D152, FLJ38847	uc001hub.3	Q9H425	OTTHUMG00000037790	ENST00000366663.5:c.103T>C	1.37:g.231004156A>G	ENSP00000355623:p.Ser35Pro		A8K8R8|B3KTW1|G5EA08	Missense_Mutation	SNP	ENST00000366663.5	37	CCDS1587.1	.	.	.	.	.	.	.	.	.	.	a	27.1	4.796512	0.90453	.	.	ENSG00000119280	ENST00000366663	T	0.42131	0.98	3.63	2.47	0.30058	.	0.000000	0.64402	U	0.000003	T	0.57184	0.2036	M	0.68593	2.085	0.80722	D	1	D	0.71674	0.998	D	0.68943	0.961	T	0.57312	-0.7833	10	0.87932	D	0	.	9.652	0.39904	0.8238:0.1762:0.0:0.0	.	35	Q9H425	CA198_HUMAN	P	35	ENSP00000355623:S35P	ENSP00000355623:S35P	S	-	1	0	C1orf198	229070779	1.000000	0.71417	0.995000	0.50966	0.985000	0.73830	7.272000	0.78516	0.431000	0.26258	0.375000	0.23000	TCG		0.682	C1orf198-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092236.2	NM_032800		G	231004156	A	G	231004156	3	3	750	1	0	0	0	0	1	0	0	0	2028	275	10	3	896	3	C1orf198	1	231004156	Missense_Mutation	SNP	A	TCGA-KO-8409-01A-11D-2310-10	74283002	231004156	18246465	9	44095											
GTF3C2	2976	broad.mit.edu;ucsc.edu	37	2	27550102	27550102	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr2:27550102T>C	ENST00000359541.2	-	18	2888	c.2459A>G	c.(2458-2460)gAg>gGg	p.E820G	GTF3C2_ENST00000264720.3_Missense_Mutation_p.E820G|MPV17_ENST00000357186.6_5'Flank			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	820					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCCTCTCCCTCCTGCATGCG	0.532																																																0													78	66	70					2																	27550102		2203	4300	6503	SO:0001583	missense	2976			D13636	CCDS1749.1	2p23.3	2013-01-10	2002-08-29		ENSG00000115207	ENSG00000115207		"General transcription factors", "WD repeat domain containing"	4665	protein-coding gene	gene with protein product		604883	"general transcription factor IIIC, polypeptide 2 (beta subunit, 110kD)"			7729686	Standard	NM_001521		Approved	KIAA0011, TFIIIC110	uc002rjw.2	Q8WUA4	OTTHUMG00000097785	ENST00000359541.2:c.2459A>G	2.37:g.27550102T>C	ENSP00000352536:p.Glu820Gly		D6W557|Q16632|Q9BWI7	Silent	SNP	ENST00000359541.2	37	CCDS1749.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	16.54|16.54	3.150979|3.150979	0.57151|0.57151	.|.	.|.	ENSG00000115207|ENSG00000115207	ENST00000359541;ENST00000264720|ENST00000431028;ENST00000454704;ENST00000415683	T;T|.	0.73469|.	-0.75;-0.75|.	4.95|4.95	3.77|3.77	0.43336|0.43336	WD40 repeat-like-containing domain (1);|.	0.490106|.	0.22812|.	N|.	0.055334|.	T|T	0.30634|0.30634	0.0771|0.0771	N|N	0.14661|0.14661	0.345|0.345	0.33213|0.33213	D|D	0.553678|0.553678	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.38520|0.38520	-0.9657|-0.9657	10|5	0.28530|.	T|.	0.3|.	-9.0314|-9.0314	7.4656|7.4656	0.27320|0.27320	0.2122:0.0:0.0:0.7878|0.2122:0.0:0.0:0.7878	.|.	820|.	Q8WUA4|.	TF3C2_HUMAN|.	G|G	820|35;329;243	ENSP00000352536:E820G;ENSP00000264720:E820G|.	ENSP00000264720:E820G|.	E|R	-|-	2|1	0|2	GTF3C2|GTF3C2	27403606|27403606	0.998000|0.998000	0.40836|0.40836	0.999000|0.999000	0.59377|0.59377	0.997000|0.997000	0.91878|0.91878	0.549000|0.549000	0.23329|0.23329	0.876000|0.876000	0.35872|0.35872	0.529000|0.529000	0.55759|0.55759	GAG|AGG		0.532	GTF3C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215028.2			C	27550102	T	C	27550102	3	2	750	1	0	0	0	0	1	0	0	0	6875	1551	54	3	284	3	GTF3C2	2	27550102	Missense_Mutation	SNP	T	TCGA-KO-8409-01A-11D-2310-10		27550102	215649271	10	44096											
ALK	238	broad.mit.edu;mdanderson.org;bcgsc.ca	37	2	29416536	29416536	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr2:29416536C>T	ENST00000389048.3	-	29	5323	c.4417G>A	c.(4417-4419)Ggg>Agg	p.G1473R	ALK_ENST00000431873.1_Missense_Mutation_p.G303R	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	1473					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.V1471fs*45(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	ACGTGTCCCCCTTCCACGGCC	0.582			"T, Mis, A"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	"ALCL, NSCLC, Neuroblastoma"	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"L, E, M"	1	Deletion - Frameshift(1)	pancreas(1)											101	104	103					2																	29416536		2203	4300	6503	SO:0001583	missense	238	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"CD molecules"	427	protein-coding gene	gene with protein product		105590	"anaplastic lymphoma kinase (Ki-1)"			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.4417G>A	2.37:g.29416536C>T	ENSP00000373700:p.Gly1473Arg		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	37	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	c	10.05	1.244136	0.22796	.	.	ENSG00000171094	ENST00000389048;ENST00000431873	T;T	0.77620	-1.11;2.59	5.64	3.81	0.43845	.	0.137965	0.32671	N	0.005794	T	0.65565	0.2703	L	0.36672	1.1	0.38337	D	0.943963	B	0.23735	0.09	B	0.21917	0.037	T	0.58875	-0.7559	10	0.23302	T	0.38	.	9.4229	0.38561	0.0:0.7747:0.1491:0.0762	.	1473	Q9UM73	ALK_HUMAN	R	1473;303	ENSP00000373700:G1473R;ENSP00000414027:G303R	ENSP00000373700:G1473R	G	-	1	0	ALK	29270040	0.999000	0.42202	0.449000	0.26957	0.022000	0.10575	5.497000	0.66924	0.716000	0.32124	0.556000	0.70494	GGG		0.582	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		T	29416536	C	T	29416536	3	4	750	1	0	0	0	0	1	0	0	0	525	681	24	2	449	2	ALK	2	29416536	Missense_Mutation	SNP	C	TCGA-KO-8409-01A-11D-2310-10	1866434	29416536	213782837	11	44097											
IMMT	10989	broad.mit.edu	37	2	86374840	86374840	+	Silent	SNP	C	C	T			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr2:86374840C>T	ENST00000410111.3	-	13	1905	c.1518G>A	c.(1516-1518)aaG>aaA	p.K506K	IMMT_ENST00000449247.2_Silent_p.K495K|IMMT_ENST00000254636.5_Silent_p.K407K|IMMT_ENST00000409051.2_Silent_p.K459K|IMMT_ENST00000442664.2_Silent_p.K505K	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	506					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						CAAATTCAGACTTCAATTCCT	0.488																																																0													110	109	109					2																	86374840		1983	4152	6135	SO:0001819	synonymous_variant	10989			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.1518G>A	2.37:g.86374840C>T			B1H0U5|B2R5N6|Q14539|Q15092|Q68D41|Q69HW5|Q6IBL0|Q7Z3X1|Q8TAJ5|Q9P0V2	Silent	SNP	ENST00000410111.3	37	CCDS46355.1	.	.	.	.	.	.	.	.	.	.	C	7.097	0.573397	0.13623	.	.	ENSG00000132305	ENST00000419070	.	.	.	6.17	0.529	0.17095	.	.	.	.	.	T	0.69233	0.3088	.	.	.	0.42153	D	0.991561	.	.	.	.	.	.	T	0.67995	-0.5526	4	.	.	.	-24.7055	16.3409	0.83081	0.0:0.8147:0.0:0.1853	.	.	.	.	I	361	.	.	V	-	1	0	IMMT	86228351	0.003000	0.15002	0.512000	0.27736	0.993000	0.82548	-0.013000	0.12678	-0.109000	0.12044	0.655000	0.94253	GTC		0.488	IMMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329909.2	NM_006839		T	86374840	C	T	86374840	2	4	750	1	0	0	0	0	0	0	0	1	7720	564	20	2		2	IMMT	2	86374840	Silent	SNP	C	TCGA-KO-8409-01A-11D-2310-10	56958304	86374840	156824533	12	44098											
PCDP1	200373	ucsc.edu	37	2	120397411	120397411	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr2:120397411T>C	ENST00000413369.3	+	21	2275	c.2188T>C	c.(2188-2190)Tcc>Ccc	p.S730P	PCDP1_ENST00000602047.1_Missense_Mutation_p.S444P	NM_001271049.1	NP_001257978																Colorectal(110;0.196)					GGTTCTCTCCTCCCTGCCGGA	0.493																																																0													95	94	94					2																	120397411		2203	4300	6503	SO:0001583	missense	0																														ENST00000413369.3:c.2188T>C	2.37:g.120397411T>C	ENSP00000393222:p.Ser730Pro			Missense_Mutation	SNP	ENST00000413369.3	37	CCDS33282.2	.	.	.	.	.	.	.	.	.	.	T	16.24	3.067453	0.55539	.	.	ENSG00000163075	ENST00000295220;ENST00000413369	T	0.18960	2.18	5.07	-4.22	0.03800	.	1.174140	0.06179	N	0.679050	T	0.28732	0.0712	L	0.52573	1.65	0.09310	N	1	D	0.58970	0.984	P	0.59056	0.851	T	0.39941	-0.9589	10	0.54805	T	0.06	-1.9503	4.2765	0.10811	0.1332:0.1104:0.5434:0.213	.	730	Q4G0U5	PCDP1_HUMAN	P	444;730	ENSP00000393222:S730P	ENSP00000295220:S444P	S	+	1	0	AC069154.2	120113881	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	0.133000	0.15912	-0.261000	0.09405	-1.236000	0.01555	TCC		0.493	PCDP1-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464236.1			C	120397411	T	C	120397411	3	2	750	1	0	0	0	0	1	0	0	0	11574	1551	54	3	1380	3	PCDP1	2	120397411	Missense_Mutation	SNP	T	TCGA-KO-8409-01A-11D-2310-10	34022571	120397411	122801962	13	44099											
POTEE	445582	broad.mit.edu	37	2	132021077	132021078	+	Frame_Shift_Ins	INS	-	-	A	rs200735283	byFrequency	TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr2:132021077_132021078insA	ENST00000356920.5	+	15	2143_2144	c.2049_2050insA	c.(2050-2052)aaafs	p.K684fs	POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron	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																																																0																																										SO:0001589	frameshift_variant	445582			AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33895	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 2"	608914	"ANKRD26-like family C, member 1A"	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.2057dupA	2.37:g.132021085_132021085dupA	ENSP00000439189:p.Lys684fs		Q6S8J4|Q6S8J5|Q6S8J8	Frame_Shift_Ins	INS	ENST00000356920.5	37	CCDS46414.1																																																																																				0.416	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		A	132021078	-	A	132021077	7	5	750	1	0	1	1	0	0	0	0	0	12266	1277	45	0	2107	0	POTEE	2	132021077	Frame_Shift_Ins	INS	-	TCGA-KO-8409-01A-11D-2310-10	11623666	132021077	111178296	14	44100											
UBR3	130507	mdanderson.org	37	2	170684548	170684548	+	Silent	SNP	G	G	A	rs79036304	byFrequency	TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr2:170684548G>A	ENST00000272793.5	+	1	581	c.531G>A	c.(529-531)gtG>gtA	p.V177V	UBR3_ENST00000418381.1_Silent_p.V177V			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	177					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						ACAGCAACGTGATGCGGGAGA	0.726													g|||	320	0.0638978	0.174	0.0461	5008	,	,		9387	0.0109		0.0258	False		,,,				2504	0.0215															0													6	6	6					2																	170684548		685	1551	2236	SO:0001819	synonymous_variant	130507			AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"Ubiquitin protein ligase E3 component n-recognins"	30467	protein-coding gene	gene with protein product		613831	"zinc finger protein 650"	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.531G>A	2.37:g.170684548G>A			B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Silent	SNP	ENST00000272793.5	37																																																																																					0.726	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255290.2	NM_172070		A	170684548	G	A	170684548	2	1	750	1	0	0	0	0	0	0	0	1	16908	1277	45	2		2	UBR3	2	170684548	Silent	SNP	G	TCGA-KO-8409-01A-11D-2310-10	38663471	170684548	72514825	15	44101											
SATB2	23314	broad.mit.edu	37	2	200136984	200136984	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr2:200136984C>T	ENST00000417098.1	-	11	2968	c.2152G>A	c.(2152-2154)Gaa>Aaa	p.E718K	SATB2_ENST00000260926.5_Missense_Mutation_p.E718K|SATB2_ENST00000443023.1_Missense_Mutation_p.E659K|SATB2_ENST00000457245.1_Missense_Mutation_p.E718K|SATB2_ENST00000428695.1_Missense_Mutation_p.E600K	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	718					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TCAGCATTTTCCTCCTCAGCC	0.502																																					Colon(30;262 767 11040 24421 36230)											0													127	122	123					2																	200136984		2203	4300	6503	SO:0001583	missense	23314			AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"Homeoboxes / CUT class"	21637	protein-coding gene	gene with protein product		608148	"SATB family member 2"				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.2152G>A	2.37:g.200136984C>T	ENSP00000401112:p.Glu718Lys		A8K5Z8|Q3ZB87|Q4V763	Missense_Mutation	SNP	ENST00000417098.1	37	CCDS2327.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.353580	0.41700	.	.	ENSG00000119042	ENST00000417098;ENST00000443023;ENST00000260926;ENST00000428695;ENST00000457245	T;T;T;T;T	0.48522	0.81;0.81;0.81;0.82;0.81	5.63	5.63	0.86233	.	0.213619	0.39834	N	0.001259	T	0.36082	0.0954	N	0.14661	0.345	0.46376	D	0.999013	B;B	0.26002	0.139;0.004	B;B	0.22152	0.038;0.004	T	0.14839	-1.0458	10	0.51188	T	0.08	-6.9461	20.0401	0.97581	0.0:1.0:0.0:0.0	.	600;718	Q3ZB87;Q9UPW6	.;SATB2_HUMAN	K	718;659;718;600;718	ENSP00000401112:E718K;ENSP00000388764:E659K;ENSP00000260926:E718K;ENSP00000388581:E600K;ENSP00000405420:E718K	ENSP00000260926:E718K	E	-	1	0	SATB2	199845229	1.000000	0.71417	0.991000	0.47740	0.115000	0.19883	4.034000	0.57289	2.805000	0.96524	0.655000	0.94253	GAA		0.502	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	NM_015265		T	200136984	C	T	200136984	3	4	750	1	0	0	0	0	1	0	0	0	13860	864	30	2	53	2	SATB2	2	200136984	Missense_Mutation	SNP	C	TCGA-KO-8409-01A-11D-2310-10	29452436	200136984	43062389	16	44102											
NCL	4691	broad.mit.edu	37	2	232322444	232322444	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr2:232322444C>T	ENST00000322723.4	-	9	1597	c.1357G>A	c.(1357-1359)Gag>Aag	p.E453K	SNORD82_ENST00000365530.1_RNA|SNORA75_ENST00000384158.1_RNA|SNORD20_ENST00000384550.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	453	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				angiogenesis (GO:0001525)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)	cell cortex (GO:0005938)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		CCATCGATCTCTGTTCCCTGC	0.393																																																0													168	152	157					2																	232322444		2203	4300	6503	SO:0001583	missense	4691				CCDS33397.1	2q37.1	2013-09-19			ENSG00000115053	ENSG00000115053		"RNA binding motif (RRM) containing"	7667	protein-coding gene	gene with protein product		164035				2394707, 3409881	Standard	NM_005381		Approved	C23	uc002vru.3	P19338	OTTHUMG00000153866	ENST00000322723.4:c.1357G>A	2.37:g.232322444C>T	ENSP00000318195:p.Glu453Lys		Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	Missense_Mutation	SNP	ENST00000322723.4	37	CCDS33397.1	.	.	.	.	.	.	.	.	.	.	C	35	5.498117	0.96355	.	.	ENSG00000115053	ENST00000322723;ENST00000392033;ENST00000322732;ENST00000356936	T;T	0.15718	2.4;2.4	5.49	5.49	0.81192	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.044956	0.85682	D	0.000000	T	0.27594	0.0678	N	0.13140	0.3	0.80722	D	1	D	0.61697	0.99	D	0.77004	0.989	T	0.11817	-1.0572	10	0.51188	T	0.08	-23.3514	18.4237	0.90602	0.0:1.0:0.0:0.0	.	453	P19338	NUCL_HUMAN	K	453;345;225;54	ENSP00000318195:E453K;ENSP00000349410:E54K	ENSP00000318195:E453K	E	-	1	0	NCL	232030688	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.087000	0.76893	2.587000	0.87381	0.558000	0.71614	GAG		0.393	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332731.1	NM_005381		T	232322444	C	T	232322444	3	4	750	1	0	0	0	0	1	0	0	0	10228	922	32	2	799	2	NCL	2	232322444	Missense_Mutation	SNP	C	TCGA-KO-8409-01A-11D-2310-10	32185460	232322444	10876929	17	44103											
SMARCC1	6599	bcgsc.ca	37	3	47651783	47651783	+	Missense_Mutation	SNP	C	C	G			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr3:47651783C>G	ENST00000254480.5	-	26	2935	c.2816G>C	c.(2815-2817)cGc>cCc	p.R939P	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	939					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)		GAAGTTTTGGCGTTCAGTAAG	0.478																																																0													240	217	225					3																	47651783		2203	4300	6503	SO:0001583	missense	6599			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.2816G>C	3.37:g.47651783C>G	ENSP00000254480:p.Arg939Pro		Q17RS0|Q6P172|Q8IWH2	Missense_Mutation	SNP	ENST00000254480.5	37	CCDS2758.1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.609456	0.66558	.	.	ENSG00000173473	ENST00000254480	T	0.26810	1.71	6.06	6.06	0.98353	.	0.167377	0.53938	D	0.000049	T	0.63838	0.2545	M	0.92738	3.34	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71013	-0.4715	10	0.87932	D	0	-4.7931	19.6164	0.95636	0.0:1.0:0.0:0.0	.	939	Q92922	SMRC1_HUMAN	P	939	ENSP00000254480:R939P	ENSP00000254480:R939P	R	-	2	0	SMARCC1	47626787	1.000000	0.71417	0.999000	0.59377	0.026000	0.11368	7.783000	0.85696	2.871000	0.98454	0.655000	0.94253	CGC		0.478	SMARCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257491.1			G	47651783	C	G	47651783	3	3	750	1	0	0	0	0	1	0	0	0	14781	768	27	4	513	4	SMARCC1	3	47651783	Missense_Mutation	SNP	C	TCGA-KO-8409-01A-11D-2310-10		47651783	150370647	18	44104											
TSC22D2	9819	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	3	150127405	150127405	+	Silent	SNP	C	C	T			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr3:150127405C>T	ENST00000361875.3	+	1	1284	c.268C>T	c.(268-270)Cta>Tta	p.L90L	TSC22D2_ENST00000361136.2_Silent_p.L90L	NM_014779.2	NP_055594.1	O75157	T22D2_HUMAN	TSC22 domain family, member 2	90					response to osmotic stress (GO:0006970)		sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			AAACCTCCTCCTAGATGGGCA	0.662																																																0													17	20	19					3																	150127405		2203	4298	6501	SO:0001819	synonymous_variant	9819			AB014569	CCDS3149.1	3q25.1	2005-03-01			ENSG00000196428	ENSG00000196428			29095	protein-coding gene	gene with protein product						9734811	Standard	NM_014779		Approved	KIAA0669, TILZ4a, TILZ4b, TILZ4c	uc003exv.3	O75157	OTTHUMG00000159744	ENST00000361875.3:c.268C>T	3.37:g.150127405C>T			D3DNI5|Q6PI50|Q9H2Z6|Q9H2Z7|Q9H2Z8	Silent	SNP	ENST00000361875.3	37	CCDS3149.1																																																																																				0.662	TSC22D2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357123.2	NM_014779		T	150127405	C	T	150127405	2	4	750	1	0	0	0	0	0	0	0	1	16613	680	24	2		2	TSC22D2	3	150127405	Silent	SNP	C	TCGA-KO-8409-01A-11D-2310-10	102475622	150127405	47895025	19	44105											
CPZ	8532	mdanderson.org	37	4	8594574	8594574	+	Missense_Mutation	SNP	T	T	C	rs2302583	byFrequency	TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr4:8594574T>C	ENST00000360986.4	+	1	188	c.14T>C	c.(13-15)cTg>cCg	p.L5P	CPZ_ENST00000382480.2_5'UTR|CPZ_ENST00000315782.6_Missense_Mutation_p.L5P|CPZ_ENST00000506287.1_3'UTR	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	5			L -> P (in dbSNP:rs2302583). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9099699}.		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)	p.L5delL(1)		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						CCGCCCCCGCTGCCGCTGCTG	0.761													C|||	4037	0.80611	0.8283	0.8761	5008	,	,		9685	0.9127		0.7406	False		,,,				2504	0.684															1	Deletion - In frame(1)	upper_aerodigestive_tract(1)											2	3	3					4																	8594574		1502	3213	4715	SO:0001583	missense	8532			U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"metallocarboxypeptidase Z"	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.14T>C	4.37:g.8594574T>C	ENSP00000354255:p.Leu5Pro		O00520|Q96MX2	Missense_Mutation	SNP	ENST00000360986.4	37	CCDS33953.1	1777	0.8136446886446886	382	0.7764227642276422	312	0.861878453038674	522	0.9125874125874126	561	0.7401055408970977	C	3.283	-0.146655	0.06627	.	.	ENSG00000109625	ENST00000360986;ENST00000315782	T;T	0.59906	0.56;0.23	1.98	1.1	0.20463	.	4.658350	0.01367	N	0.012429	T	0.00012	0.0000	N	0.08118	0	0.58432	P	2.9999999999752447E-6	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.48210	-0.9055	9	0.49607	T	0.09	.	2.6287	0.04938	0.2816:0.5468:0.0:0.1716	rs2302583;rs56744501	5;5	Q66K79-2;Q66K79	.;CBPZ_HUMAN	P	5	ENSP00000354255:L5P;ENSP00000315074:L5P	ENSP00000315074:L5P	L	+	2	0	CPZ	8645474	0.000000	0.05858	0.003000	0.11579	0.045000	0.14185	-0.680000	0.05197	0.000000	0.14550	-0.355000	0.07637	CTG		0.761	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207001.4	NM_003652		C	8594574	T	C	8594574	3	2	750	1	0	0	0	0	1	0	0	0	3841	1580	55	3	16	3	CPZ	4	8594574	Missense_Mutation	SNP	T	TCGA-KO-8409-01A-11D-2310-10		8594574	182559702	20	44106	448	2									
CPZ	8532	mdanderson.org	37	4	8594577	8594577	+	Missense_Mutation	SNP	C	C	T	rs34964084	byFrequency	TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr4:8594577C>T	ENST00000360986.4	+	1	191	c.17C>T	c.(16-18)cCg>cTg	p.P6L	CPZ_ENST00000382480.2_5'UTR|CPZ_ENST00000315782.6_Missense_Mutation_p.P6L|CPZ_ENST00000506287.1_3'UTR	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	6			P -> L (in dbSNP:rs34964084). {ECO:0000269|PubMed:9099699}.		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						CCCCCGCTGCCGCTGCTGCTC	0.756													C|||	655	0.130791	0.025	0.1931	5008	,	,		9673	0.1617		0.2366	False		,,,				2504	0.089															0								C	,LEU/PRO,LEU/PRO	101,2957		1,99,1429	2	3	3		,17,17	-0.6	0	4	dbSNP_126	3	811,5659		38,735,2462	no	utr-5,missense,missense	CPZ	NM_001014448.2,NM_003652.3,NM_001014447.2	,98,98	39,834,3891	TT,TC,CC		12.5348,3.3028,9.5718	,benign,benign	,6/642,6/653	8594577	912,8616	1529	3235	4764	SO:0001583	missense	8532			U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"metallocarboxypeptidase Z"	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.17C>T	4.37:g.8594577C>T	ENSP00000354255:p.Pro6Leu		O00520|Q96MX2	Missense_Mutation	SNP	ENST00000360986.4	37	CCDS33953.1	352	0.16117216117216118	16	0.032520325203252036	78	0.2154696132596685	77	0.1346153846153846	181	0.23878627968337732	C	0.003	-2.482788	0.00163	0.033028	0.125348	ENSG00000109625	ENST00000360986;ENST00000315782	T;T	0.56776	0.68;0.44	1.87	-0.596	0.11657	.	2.196060	0.02795	N	0.122470	T	0.00012	0.0000	N	0.14661	0.345	0.38383	P	0.054822999999999955	B;B	0.09022	0.002;0.001	B;B	0.01281	0.0;0.0	T	0.06826	-1.0805	9	0.02654	T	1	.	4.365	0.11220	0.0:0.4294:0.0:0.5706	rs34964084	6;6	Q66K79-2;Q66K79	.;CBPZ_HUMAN	L	6	ENSP00000354255:P6L;ENSP00000315074:P6L	ENSP00000315074:P6L	P	+	2	0	CPZ	8645477	0.001000	0.12720	0.014000	0.15608	0.073000	0.16967	0.039000	0.13884	-0.198000	0.10333	-0.379000	0.06801	CCG		0.756	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207001.4	NM_003652		T	8594577	C	T	8594577	3	4	750	1	0	0	0	0	1	0	0	0	3841	652	23	1	19	1	CPZ	4	8594577	Missense_Mutation	SNP	C	TCGA-KO-8409-01A-11D-2310-10	3	8594577	182559699	21	44107	448	2									
G3BP2	9908	broad.mit.edu	37	4	76570758	76570758	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr4:76570758delA	ENST00000359707.4	-	12	2090	c.1305delT	c.(1303-1305)ggtfs	p.G436fs	G3BP2_ENST00000395719.3_Frame_Shift_Del_p.G436fs|G3BP2_ENST00000357854.3_Frame_Shift_Del_p.G403fs	NM_203505.2	NP_987101.1	Q9UN86	G3BP2_HUMAN	GTPase activating protein (SH3 domain) binding protein 2	436	Gly-rich.				cytoplasmic sequestering of NF-kappaB (GO:0007253)|mRNA transport (GO:0051028)|Ras protein signal transduction (GO:0007265)	cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|receptor signaling complex scaffold activity (GO:0030159)			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	27			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			CACGTGGACCACCGGGACCTC	0.522																																																0													267	208	228					4																	76570758		2203	4300	6503	SO:0001589	frameshift_variant	9908			AB014560	CCDS3571.1, CCDS3572.1	4q21.1	2013-02-12	2006-11-01		ENSG00000138757	ENSG00000138757		"RNA binding motif (RRM) containing"	30291	protein-coding gene	gene with protein product	"Ras-GTPase activating protein SH3 domain-binding protein 2"					9734811, 9575347	Standard	NM_203504		Approved	KIAA0660	uc003his.3	Q9UN86	OTTHUMG00000130097	ENST00000359707.4:c.1305delT	4.37:g.76570758delA	ENSP00000352738:p.Gly436fs		A8K6X1|O60606|O75149|Q9UPA1	Frame_Shift_Del	DEL	ENST00000359707.4	37	CCDS3571.1																																																																																				0.522	G3BP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252399.2	NM_012297		-	76570758	A	-	76570758	7	5	750	1	0	1	0	1	0	0	0	0	6144	146	6	0	147	0	G3BP2	4	76570758	Frame_Shift_Del	DEL	A	TCGA-KO-8409-01A-11D-2310-10	67976181	76570758	114583518	22	44108											
ANTXR2	118429	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	4	80954628	80954628	+	Missense_Mutation	SNP	G	G	A	rs529468896		TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr4:80954628G>A	ENST00000307333.7	-	9	796	c.794C>T	c.(793-795)aCg>aTg	p.T265M	ANTXR2_ENST00000295465.4_Missense_Mutation_p.T265M|ANTXR2_ENST00000403729.2_Missense_Mutation_p.T265M|ANTXR2_ENST00000404191.1_Missense_Mutation_p.T188M|ANTXR2_ENST00000346652.6_Intron	NM_001145794.1	NP_001139266.1	P58335	ANTR2_HUMAN	anthrax toxin receptor 2	265					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						GGACCTACTCGTTGTATATGT	0.393									Juvenile Hyaline Fibromatosis																																							0													88	85	86					4																	80954628		1900	4128	6028	SO:0001583	missense	118429	Familial Cancer Database	incl. Infantile Systemic Hyalinosis	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.794C>T	4.37:g.80954628G>A	ENSP00000306185:p.Thr265Met		Q4W5H6|Q59E98|Q5JPE9|Q86UI1|Q8N4J8|Q8NB13|Q96NC7	Missense_Mutation	SNP	ENST00000307333.7	37	CCDS47086.1	.	.	.	.	.	.	.	.	.	.	G	5.659	0.306184	0.10733	.	.	ENSG00000163297	ENST00000403729;ENST00000404191;ENST00000307333;ENST00000295465	D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03	5.71	-2.12	0.07165	Anthrax toxin receptor, extracellular (1);	1.064330	0.07177	N	0.853341	T	0.66107	0.2756	N	0.08118	0	0.09310	N	1	B;B	0.15930	0.015;0.008	B;B	0.12837	0.008;0.005	T	0.51980	-0.8636	10	0.37606	T	0.19	-3.045	3.0427	0.06143	0.5656:0.0806:0.1079:0.2459	.	265;265	P58335;P58335-4	ANTR2_HUMAN;.	M	265;188;265;265	ENSP00000385575:T265M;ENSP00000384028:T188M;ENSP00000306185:T265M;ENSP00000295465:T265M	ENSP00000295465:T265M	T	-	2	0	ANTXR2	81173652	0.000000	0.05858	0.072000	0.20136	0.218000	0.24690	-0.664000	0.05292	-0.133000	0.11537	-0.347000	0.07816	ACG		0.393	ANTXR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324663.1	NM_058172		A	80954628	G	A	80954628	3	1	750	1	0	0	0	0	1	0	0	0	712	1145	40	1	750	1	ANTXR2	4	80954628	Missense_Mutation	SNP	G	TCGA-KO-8409-01A-11D-2310-10	4383870	80954628	110199648	23	44109											
PDHA2	5161	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	4	96761794	96761794	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr4:96761794G>A	ENST00000295266.4	+	1	556	c.493G>A	c.(493-495)Gtc>Atc	p.V165I		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	165					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)	p.V165I(1)		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)		CAATGGCATCGTCGGTGCACA	0.507																																																1	Substitution - Missense(1)	lung(1)											69	71	71					4																	96761794		2203	4300	6503	SO:0001583	missense	5161				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.493G>A	4.37:g.96761794G>A	ENSP00000295266:p.Val165Ile		B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Missense_Mutation	SNP	ENST00000295266.4	37	CCDS3644.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.659398	0.47467	.	.	ENSG00000163114	ENST00000295266	D	0.95853	-3.83	4.67	4.67	0.58626	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.93367	0.7885	M	0.68952	2.095	0.80722	D	1	P	0.43750	0.816	B	0.34873	0.191	D	0.94488	0.7699	10	0.87932	D	0	-1.6001	15.4624	0.75369	0.0:0.0:1.0:0.0	.	165	P29803	ODPAT_HUMAN	I	165	ENSP00000295266:V165I	ENSP00000295266:V165I	V	+	1	0	PDHA2	96980817	1.000000	0.71417	0.849000	0.33467	0.107000	0.19398	8.809000	0.91944	2.587000	0.87381	0.467000	0.42956	GTC		0.507	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1			A	96761794	G	A	96761794	3	1	750	1	0	0	0	0	1	0	0	0	11667	1145	40	1	495	1	PDHA2	4	96761794	Missense_Mutation	SNP	G	TCGA-KO-8409-01A-11D-2310-10	15807166	96761794	94392482	24	44110											
NEUROG2	63973	mdanderson.org	37	4	113436044	113436044	+	Silent	SNP	T	T	G	rs901474	byFrequency	TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr4:113436044T>G	ENST00000313341.3	-	2	914	c.588A>C	c.(586-588)ggA>ggC	p.G196G	RP11-402J6.1_ENST00000504009.1_RNA|RP11-402J6.1_ENST00000506057.1_RNA	NM_024019.3	NP_076924.1	Q9H2A3	NGN2_HUMAN	neurogenin 2	196					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)		CGGCGCTGGCTCCTCCCGGGC	0.731													G|||	4797	0.957867	0.9955	0.9337	5008	,	,		9350	1.0		0.8628	False		,,,				2504	0.9785															0								G		4270,104		2083,104,0	17	21	19		588	-1.3	0	4	dbSNP_86	19	7351,1195		3177,997,99	no	coding-synonymous	NEUROG2	NM_024019.2		5260,1101,99	GG,GT,TT		13.9832,2.3777,10.0542		196/273	113436044	11621,1299	2187	4273	6460	SO:0001819	synonymous_variant	63973			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.588A>C	4.37:g.113436044T>G			Q8N416	Silent	SNP	ENST00000313341.3	37	CCDS3698.1																																																																																				0.731	NEUROG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256414.1	NM_024019		G	113436044	T	G	113436044	2	3	750	1	0	0	0	0	0	0	0	1	10355	1538	54	5		5	NEUROG2	4	113436044	Silent	SNP	T	TCGA-KO-8409-01A-11D-2310-10	16674250	113436044	77718232	25	44111											
FRG1	2483	mdanderson.org	37	4	190873379	190873379	+	Missense_Mutation	SNP	A	A	G	rs112612436		TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr4:190873379A>G	ENST00000226798.4	+	3	418	c.196A>G	c.(196-198)Aag>Gag	p.K66E	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	66			K -> E (in dbSNP:rs17406826).		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)	p.K66E(1)		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)		TGAAATGGATAAGGGAACCTA	0.383																																																1	Substitution - Missense(1)	skin(1)											101	115	110					4																	190873379		2203	4298	6501	SO:0001583	missense	2483			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.196A>G	4.37:g.190873379A>G	ENSP00000226798:p.Lys66Glu		A8K775	Missense_Mutation	SNP	ENST00000226798.4	37	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	11.33	1.608104	0.28623	.	.	ENSG00000109536	ENST00000226798;ENST00000531991	T;T	0.44083	2.07;0.93	3.47	2.23	0.28157	Actin cross-linking (1);	0.148940	0.64402	D	0.000013	T	0.29288	0.0729	L	0.52011	1.625	0.42341	D	0.992332	B	0.02656	0.0	B	0.04013	0.001	T	0.10314	-1.0635	10	0.06757	T	0.87	-8.6418	8.2577	0.31766	0.7983:0.2017:0.0:0.0	rs17406826	66	Q14331	FRG1_HUMAN	E	66;3	ENSP00000226798:K66E;ENSP00000435943:K3E	ENSP00000226798:K66E	K	+	1	0	FRG1	191110373	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.931000	0.48932	0.668000	0.31126	0.441000	0.28932	AAG		0.383	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		G	190873379	A	G	190873379	3	3	750	1	0	0	0	0	1	0	0	0	6048	363	13	3	206	3	FRG1	4	190873379	Missense_Mutation	SNP	A	TCGA-KO-8409-01A-11D-2310-10	77437335	190873379	280897	26	44112											
RNF145	153830	mdanderson.org	37	5	158630641	158630641	+	5'UTR	SNP	C	C	T	rs74770414|rs74841177|rs368977591		TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr5:158630641C>T	ENST00000424310.2	-	0	344				RNF145_ENST00000520638.1_Silent_p.K9K|RNF145_ENST00000519865.1_5'UTR|RNF145_ENST00000518802.1_Silent_p.K25K|RNF145_ENST00000521606.2_Silent_p.K12K|RNF145_ENST00000274542.2_Silent_p.K23K	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145							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)			ttttttttttctttttttttt	0.363																																																0													32	34	33					5																	158630641		2203	4300	6503	SO:0001623	5_prime_UTR_variant	153830			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.-16G>A	5.37:g.158630641C>T			B7Z903|B7Z949|E7EVI7|Q8IVP7	Silent	SNP	ENST00000424310.2	37	CCDS56390.1																																																																																				0.363	RNF145-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374048.1	NM_144726		T	158630641	C	T	158630641	1	4	750	0	1	0	0	0	0	0	0	0	13453	912	32	2		2	RNF145	5	158630641	5'UTR	SNP	C	TCGA-KO-8409-01A-11D-2310-10		158630641	22284619	27	44113											
GABRB2	2561	hgsc.bcm.edu	37	5	160886707	160886709	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	CTT	CTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr5:160886707_160886709delCTT	ENST00000393959.1	-	4	378_380	c.379_381delAAG	c.(379-381)aagdel	p.K127del	GABRB2_ENST00000353437.6_In_Frame_Del_p.K127del|GABRB2_ENST00000517547.1_Intron|GABRB2_ENST00000517901.1_In_Frame_Del_p.K64del|GABRB2_ENST00000274547.2_In_Frame_Del_p.K127del|GABRB2_ENST00000520240.1_In_Frame_Del_p.K127del			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	127					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|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)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|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)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Ginkgo biloba(DB01381)|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)	GCACAAATGACTTCTTATCGTTC	0.458																																																0																																										SO:0001651	inframe_deletion	2561				CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4082	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 2"	600232				7851879	Standard	NM_000813		Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000393959.1:c.379_381delAAG	5.37:g.160886710_160886712delCTT	ENSP00000377531:p.Lys127del		A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	In_Frame_Del	DEL	ENST00000393959.1	37	CCDS4355.1																																																																																				0.458	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252704.1			-	160886709	CTT	-	160886707	7	5	750	1	0	1	0	1	0	0	0	0	6169	564	20	0	1185	0	GABRB2	5	160886707	In_Frame_Del	DEL	CTT	TCGA-KO-8409-01A-11D-2310-10	2256066	160886707	20028553	28	44114	449	2									
GABRB2	2561	bcgsc.ca	37	5	160886708	160886710	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	CTT	CTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr5:160886708_160886710delCTT	ENST00000393959.1	-	4	377_379	c.378_380delAAG	c.(376-381)aaaagg>aag	p.R127del	GABRB2_ENST00000353437.6_In_Frame_Del_p.R127del|GABRB2_ENST00000517547.1_Intron|GABRB2_ENST00000517901.1_In_Frame_Del_p.R64del|GABRB2_ENST00000274547.2_In_Frame_Del_p.R127del|GABRB2_ENST00000520240.1_In_Frame_Del_p.R127del			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	127					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|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)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|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)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Ginkgo biloba(DB01381)|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)	CACAAATGACTTCTTATCGTTCA	0.458																																																0																																										SO:0001651	inframe_deletion	2561				CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4082	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 2"	600232				7851879	Standard	NM_000813		Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000393959.1:c.378_380delAAG	5.37:g.160886708_160886710delCTT	ENSP00000377531:p.Arg127del		A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	In_Frame_Del	DEL	ENST00000393959.1	37	CCDS4355.1																																																																																				0.458	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252704.1			-	160886710	CTT	-	160886708	7	5	750	1	0	1	0	1	0	0	0	0	6169	1609	56	0	1186	0	GABRB2	5	160886708	In_Frame_Del	DEL	CTT	TCGA-KO-8409-01A-11D-2310-10	1	160886708	20028552	29	44115	449	2									
CAP2	10486	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	6	17507412	17507412	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr6:17507412G>A	ENST00000229922.2	+	5	845	c.313G>A	c.(313-315)Gca>Aca	p.A105T	CAP2_ENST00000493172.1_Intron|CAP2_ENST00000489374.1_Intron|CAP2_ENST00000378990.2_Missense_Mutation_p.A79T|CAP2_ENST00000465994.1_Missense_Mutation_p.A105T	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	105					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)		p.A105T(1)		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)			TGACGTGGCCGCACTTCTGAA	0.473																																																1	Substitution - Missense(1)	lung(1)											73	74	74					6																	17507412		2203	4300	6503	SO:0001583	missense	10486			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.313G>A	6.37:g.17507412G>A	ENSP00000229922:p.Ala105Thr		B2R5Y3|B7Z1C4|B7Z214|Q6IAY2	Missense_Mutation	SNP	ENST00000229922.2	37	CCDS4539.1	.	.	.	.	.	.	.	.	.	.	G	0.547	-0.850919	0.02651	.	.	ENSG00000112186	ENST00000229922;ENST00000378994;ENST00000378990;ENST00000465994	T;T;T	0.11821	2.74;2.74;2.74	5.38	0.545	0.17190	Adenylate cyclase-associated CAP, N-terminal (2);	0.434279	0.27289	N	0.020054	T	0.01353	0.0044	N	0.04805	-0.155	0.09310	N	1	B;B;B	0.11235	0.002;0.003;0.004	B;B;B	0.09377	0.003;0.004;0.003	T	0.47471	-0.9115	10	0.14656	T	0.56	-3.1059	6.7367	0.23413	0.3309:0.0:0.553:0.1162	.	105;79;105	B7Z1C4;E9PDI2;P40123	.;.;CAP2_HUMAN	T	105;105;79;105	ENSP00000229922:A105T;ENSP00000368275:A79T;ENSP00000418604:A105T	ENSP00000229922:A105T	A	+	1	0	CAP2	17615391	0.000000	0.05858	0.273000	0.24645	0.024000	0.10985	-0.057000	0.11768	0.012000	0.14892	-1.181000	0.01715	GCA		0.473	CAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039952.2			A	17507412	G	A	17507412	3	1	750	1	0	0	0	0	1	0	0	0	2622	1087	38	1	327	1	CAP2	6	17507412	Missense_Mutation	SNP	G	TCGA-KO-8409-01A-11D-2310-10		17507412	153607655	30	44116											
KIAA0319	9856	mdanderson.org	37	6	24551664	24551664	+	Missense_Mutation	SNP	T	T	C	rs807534	byFrequency	TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr6:24551664T>C	ENST00000378214.3	-	20	3562	c.3038A>G	c.(3037-3039)tAt>tGt	p.Y1013C	KIAA0319_ENST00000535378.1_Missense_Mutation_p.Y1004C|KIAA0319_ENST00000430948.2_Missense_Mutation_p.Y968C|KIAA0319_ENST00000537886.1_Intron|KIAA0319_ENST00000543707.1_Missense_Mutation_p.Y1013C	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	1013			Y -> C (in dbSNP:rs807534).		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						TGTCTTACCATATTTGGGCCT	0.423													T|||	485	0.096845	0.0832	0.0922	5008	,	,		20835	0.0764		0.1272	False		,,,				2504	0.1084															0								T	CYS/TYR,CYS/TYR,CYS/TYR,,CYS/TYR	415,3991	202.1+/-225.0	20,375,1808	351	275	301		3011,3038,2903,,3038	0.2	1	6	dbSNP_86	301	1149,7451	235.7+/-268.2	75,999,3226	yes	missense,missense,missense,intron,missense	KIAA0319	NM_001168374.1,NM_001168375.1,NM_001168376.1,NM_001168377.1,NM_014809.3	194,194,194,,194	95,1374,5034	CC,CT,TT		13.3605,9.419,12.0252	probably-damaging,probably-damaging,probably-damaging,,probably-damaging	1004/1064,1013/1073,968/1028,,1013/1073	24551664	1564,11442	2203	4300	6503	SO:0001583	missense	9856			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.3038A>G	6.37:g.24551664T>C	ENSP00000367459:p.Tyr1013Cys		A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	ENST00000378214.3	37	CCDS34348.1	220	0.10073260073260074	43	0.08739837398373984	40	0.11049723756906077	38	0.06643356643356643	99	0.13060686015831136	T	14.94	2.686305	0.47991	0.09419	0.133605	ENSG00000137261	ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T	0.07021	3.23;3.23;3.23;3.23	4.56	0.197	0.15164	.	0.307026	0.26855	N	0.022150	T	0.08403	0.0209	L	0.48362	1.52	0.28285	P	0.9238074000000001	D;D	0.89917	1.0;0.999	D;P	0.65874	0.939;0.87	T	0.09640	-1.0665	9	0.38643	T	0.18	-14.3463	10.4006	0.44227	0.3848:0.0:0.0:0.6152	rs807534;rs52812688;rs56987247;rs807534	1004;1013	Q5VV43-2;Q5VV43	.;K0319_HUMAN	C	1004;968;1013;1013	ENSP00000442403:Y1004C;ENSP00000401086:Y968C;ENSP00000367459:Y1013C;ENSP00000437656:Y1013C	ENSP00000367459:Y1013C	Y	-	2	0	KIAA0319	24659643	1.000000	0.71417	0.990000	0.47175	0.960000	0.62799	1.674000	0.37544	0.216000	0.20781	0.454000	0.30748	TAT		0.423	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809		C	24551664	T	C	24551664	3	2	750	1	0	0	0	0	1	0	0	0	8170	1406	49	3	188	3	KIAA0319	6	24551664	Missense_Mutation	SNP	T	TCGA-KO-8409-01A-11D-2310-10	7044252	24551664	146563403	31	44117											
OR2W1	26692	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	6	29012270	29012270	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr6:29012270G>A	ENST00000377175.1	-	1	747	c.683C>T	c.(682-684)aCg>aTg	p.T228M		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	228						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(6)|lung(12)|ovary(2)|skin(1)	23						TTTTGACTTCGTTCTCAGCAC	0.393																																																0													139	137	138					6																	29012270		1511	2709	4220	SO:0001583	missense	26692			AL035402	CCDS4656.1	6p22.1	2012-08-09			ENSG00000204704	ENSG00000204704		"GPCR / Class A : Olfactory receptors"	8281	protein-coding gene	gene with protein product							Standard	NM_030903		Approved	hs6M1-15	uc003nlw.2	Q9Y3N9	OTTHUMG00000031048	ENST00000377175.1:c.683C>T	6.37:g.29012270G>A	ENSP00000366380:p.Thr228Met		B0S7Y5|Q5JNZ1|Q6IEU0|Q96R17|Q9GZL0|Q9GZL1	Missense_Mutation	SNP	ENST00000377175.1	37	CCDS4656.1	.	.	.	.	.	.	.	.	.	.	A	11.38	1.621816	0.28889	.	.	ENSG00000204704	ENST00000377175	T	0.00048	8.82	4.79	4.79	0.61399	GPCR, rhodopsin-like superfamily (1);	0.095158	0.46758	N	0.000274	T	0.00012	0.0000	N	0.00517	-1.405	0.09310	N	0.999994	B	0.02656	0.0	B	0.01281	0.0	T	0.27806	-1.0063	10	0.35671	T	0.21	.	9.4483	0.38710	0.914:0.0:0.086:0.0	.	228	Q9Y3N9	OR2W1_HUMAN	M	228	ENSP00000366380:T228M	ENSP00000366380:T228M	T	-	2	0	OR2W1	29120249	0.812000	0.29077	0.999000	0.59377	0.865000	0.49528	3.916000	0.56416	0.668000	0.31126	-0.332000	0.08345	ACG		0.393	OR2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076053.2			A	29012270	G	A	29012270	3	1	750	1	0	0	0	0	1	0	0	0	11034	1145	40	1	283	1	OR2W1	6	29012270	Missense_Mutation	SNP	G	TCGA-KO-8409-01A-11D-2310-10	4460606	29012270	142102797	32	44118											
OR2J3	442186	mdanderson.org	37	6	29080088	29080088	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr6:29080088C>T	ENST00000377169.1	+	1	421	c.421C>T	c.(421-423)Cct>Tct	p.P141S		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	141						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						CCTCATGCACCCTCGTTTCTG	0.517																																																0													385	415	405					6																	29080088		1399	2637	4036	SO:0001583	missense	442186				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.421C>T	6.37:g.29080088C>T	ENSP00000366374:p.Pro141Ser		B0UY52|B9EH11|Q5SUJ7|Q6IF25|Q96R15|Q9GZK5|Q9GZL4|Q9GZL5	Missense_Mutation	SNP	ENST00000377169.1	37	CCDS43433.1	.	.	.	.	.	.	.	.	.	.	C	6.734	0.504144	0.12822	.	.	ENSG00000204701	ENST00000377169	T	0.01369	4.97	2.76	0.879	0.19155	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00637	0.0021	L	0.53729	1.69	0.09310	N	1	P	0.42375	0.778	B	0.40009	0.316	T	0.48822	-0.9001	9	0.56958	D	0.05	.	2.4912	0.04610	0.367:0.3596:0.0:0.2735	.	141	O76001	OR2J3_HUMAN	S	141	ENSP00000366374:P141S	ENSP00000366374:P141S	P	+	1	0	OR2J3	29188067	0.000000	0.05858	0.988000	0.46212	0.150000	0.21749	-2.750000	0.00793	0.483000	0.27608	-0.466000	0.05196	CCT		0.517	OR2J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076132.2			T	29080088	C	T	29080088	3	4	750	1	0	0	0	0	1	0	0	0	11006	623	22	2	423	2	OR2J3	6	29080088	Missense_Mutation	SNP	C	TCGA-KO-8409-01A-11D-2310-10	67818	29080088	142034979	33	44119											
HLA-C	3107	mdanderson.org	37	6	31239006	31239006	+	Missense_Mutation	SNP	G	G	T	rs76907552		TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr6:31239006G>T	ENST00000376228.5	-	3	477	c.463C>A	c.(463-465)Cgc>Agc	p.R155S	HLA-C_ENST00000383329.3_Missense_Mutation_p.R155S	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	155	Alpha-2.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)	p.R155S(1)		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						GTCCAGGAGCGCAGGTCCTCG	0.697																																																1	Substitution - Missense(1)	skin(1)											35	27	30					6																	31239006		2178	4236	6414	SO:0001583	missense	3107			M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4933	protein-coding gene	gene with protein product		142840	"psoriasis susceptibility 1"	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.463C>A	6.37:g.31239006G>T	ENSP00000365402:p.Arg155Ser		O02864|O02958|Q29643|Q9MY30	Missense_Mutation	SNP	ENST00000376228.5	37	CCDS34393.1	539|539	0.2467948717948718|0.2467948717948718	144|144	0.2926829268292683|0.2926829268292683	105|105	0.2900552486187845|0.2900552486187845	109|109	0.19055944055944055|0.19055944055944055	181|181	0.23878627968337732|0.23878627968337732	.|.	13.99|13.99	2.401987|2.401987	0.42613|0.42613	.|.	.|.	ENSG00000204525|ENSG00000204525	ENST00000415537|ENST00000376228;ENST00000383329;ENST00000396254;ENST00000539307	.|T;T	.|0.00753	.|5.74;5.74	2.81|2.81	0.177|0.177	0.15054|0.15054	.|MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.|1.196610	.|0.06966	.|N	.|0.817182	T|T	0.01287|0.01287	0.0042|0.0042	M|M	0.71206|0.71206	2.165|2.165	0.42157|0.42157	P|P	0.008411999999999975|0.008411999999999975	.|D;B;D;B	.|0.63046	.|0.992;0.016;0.992;0.005	.|D;B;D;B	.|0.85130	.|0.997;0.103;0.997;0.049	T|T	0.46898|0.46898	-0.9158|-0.9158	4|9	.|0.54805	.|T	.|0.06	.|.	5.7525|5.7525	0.18154|0.18154	0.0:0.1715:0.3014:0.5271|0.0:0.1715:0.3014:0.5271	.|.	.|155;155;155;155	.|A2AEA4;A6H578;A2AEA2;P10321	.|.;.;.;1C07_HUMAN	E|S	154|155;155;155;192	.|ENSP00000365402:R155S;ENSP00000372819:R155S	.|ENSP00000365402:R155S	A|R	-|-	2|1	0|0	HLA-C|HLA-C	31346985|31346985	0.000000|0.000000	0.05858|0.05858	0.994000|0.994000	0.49952|0.49952	0.090000|0.090000	0.18270|0.18270	-1.467000|-1.467000	0.02352|0.02352	0.025000|0.025000	0.15241|0.15241	-0.692000|-0.692000	0.03713|0.03713	GCG|CGC		0.697	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076281.3	NM_002117		T	31239006	G	T	31239006	3	4	750	1	0	0	0	0	1	0	0	0	7199	1087	38	4	661	4	HLA-C	6	31239006	Missense_Mutation	SNP	G	TCGA-KO-8409-01A-11D-2310-10	2158918	31239006	139876061	34	44120											
RIMS1	22999	broad.mit.edu	37	6	73102466	73102466	+	Silent	SNP	A	A	G			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr6:73102466A>G	ENST00000521978.1	+	31	4572	c.4572A>G	c.(4570-4572)ggA>ggG	p.G1524G	RIMS1_ENST00000431478.2_3'UTR|RIMS1_ENST00000348717.5_Silent_p.G1307G|RIMS1_ENST00000414192.2_Silent_p.G51G|RIMS1_ENST00000425662.2_Silent_p.G592G|RIMS1_ENST00000538414.1_Silent_p.G330G|RIMS1_ENST00000264839.7_Silent_p.G1373G|RIMS1_ENST00000523963.1_Silent_p.G649G|RIMS1_ENST00000517960.1_Silent_p.G1307G|RIMS1_ENST00000518273.1_Silent_p.G1203G|RIMS1_ENST00000520567.1_Silent_p.G1174G|RIMS1_ENST00000401910.3_Silent_p.G844G|RIMS1_ENST00000522291.1_Silent_p.G1123G|RIMS1_ENST00000517827.1_Silent_p.G658G|RIMS1_ENST00000491071.2_Silent_p.G1347G	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1524					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)				ATGGATTGGGACCAGCCCAGC	0.403																																																0													97	92	93					6																	73102466		1844	4107	5951	SO:0001819	synonymous_variant	22999			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"Rab3-interacting molecule"	606629	"RAB3 interacting protein 2"	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.4572A>G	6.37:g.73102466A>G			A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Silent	SNP	ENST00000521978.1	37	CCDS47449.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.80|10.80	1.451830|1.451830	0.26074|0.26074	.|.	.|.	ENSG00000079841|ENSG00000079841	ENST00000522211|ENST00000517433	.|.	.|.	.|.	5.5|5.5	-0.0463|-0.0463	0.13847|0.13847	.|.	.|.	.|.	.|.	.|.	T|T	0.33904|0.33904	0.0879|0.0879	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.21211|0.21211	-1.0252|-1.0252	4|4	.|.	.|.	.|.	-18.708|-18.708	4.8555|4.8555	0.13557|0.13557	0.6334:0.0:0.1322:0.2344|0.6334:0.0:0.1322:0.2344	.|.	.|.	.|.	.|.	G|A	442|870	.|.	.|.	D|T	+|+	2|1	0|0	RIMS1|RIMS1	73159187|73159187	0.996000|0.996000	0.38824|0.38824	0.996000|0.996000	0.52242|0.52242	0.998000|0.998000	0.95712|0.95712	0.671000|0.671000	0.25172|0.25172	-0.232000|-0.232000	0.09811|0.09811	0.482000|0.482000	0.46254|0.46254	GAC|ACC		0.403	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			G	73102466	A	G	73102466	2	3	750	1	0	0	0	0	0	0	0	1	13373	262	10	3		3	RIMS1	6	73102466	Silent	SNP	A	TCGA-KO-8409-01A-11D-2310-10	41863460	73102466	98012601	35	44121											
UNC93A	54346	mdanderson.org	37	6	167728900	167728900	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr6:167728900T>C	ENST00000230256.3	+	8	1509	c.1334T>C	c.(1333-1335)gTc>gCc	p.V445A	UNC93A_ENST00000366829.2_Missense_Mutation_p.V403A	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	445			V -> A. {ECO:0000269|PubMed:12381271}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V445A(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CCAGGACAGGTCAACCAGGCA	0.522																																																1	Substitution - Missense(1)	skin(1)											148	161	157					6																	167728900		2203	4300	6503	SO:0001583	missense	54346			AJ508812	CCDS5300.1, CCDS47515.1	6q27	2014-05-16	2001-11-28		ENSG00000112494	ENSG00000112494			12570	protein-coding gene	gene with protein product		607995	"unc93 (C.elegans) homolog A"			12381271	Standard	NM_001143947		Approved	dJ366N23.2, dJ366N23.1	uc003qvq.3	Q86WB7	OTTHUMG00000016021	ENST00000230256.3:c.1334T>C	6.37:g.167728900T>C	ENSP00000230256:p.Val445Ala		B3KRP5|Q4QQJ4|Q5JZD6	Missense_Mutation	SNP	ENST00000230256.3	37	CCDS5300.1	.	.	.	.	.	.	.	.	.	.	C	1.940	-0.443865	0.04604	.	.	ENSG00000112494	ENST00000230256;ENST00000366829	T;T	0.04502	3.61;3.65	3.86	-3.95	0.04118	Major facilitator superfamily domain, general substrate transporter (1);	2.657010	0.01742	N	0.029466	T	0.00412	0.0013	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	0.44513	-0.9323	10	0.09084	T	0.74	0.3159	0.201	0.00145	0.3648:0.155:0.2022:0.2779	.	403;445	Q4QQJ4;Q86WB7	.;UN93A_HUMAN	A	445;403	ENSP00000230256:V445A;ENSP00000355794:V403A	ENSP00000230256:V445A	V	+	2	0	UNC93A	167648890	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.774000	0.04684	-0.778000	0.04566	-0.355000	0.07637	GTC		0.522	UNC93A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043125.2	NM_018974		C	167728900	T	C	167728900	3	2	750	1	0	0	0	0	1	0	0	0	17001	1667	58	3	1364	3	UNC93A	6	167728900	Missense_Mutation	SNP	T	TCGA-KO-8409-01A-11D-2310-10	94626434	167728900	3386167	36	44122											
AVL9	23080	broad.mit.edu	37	7	32620439	32620439	+	Frame_Shift_Del	DEL	A	A	-	rs201620276		TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr7:32620439delA	ENST00000318709.4	+	15	1989	c.1768delA	c.(1768-1770)aaafs	p.K591fs	AVL9_ENST00000409301.1_Frame_Shift_Del_p.K573fs|AVL9_ENST00000404479.1_Intron	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	591					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						TGAACGTGGCAAAAAAATTGG	0.373																																																0													89	84	85					7																	32620439		2203	4300	6503	SO:0001589	frameshift_variant	23080			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.1768delA	7.37:g.32620439delA	ENSP00000315568:p.Lys591fs		Q92573	Frame_Shift_Del	DEL	ENST00000318709.4	37	CCDS34613.1																																																																																				0.373	AVL9-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328643.1	NM_015060		-	32620439	A	-	32620439	7	5	750	1	0	1	0	1	0	0	0	0	1228	131	5	0	1826	0	AVL9	7	32620439	Frame_Shift_Del	DEL	A	TCGA-KO-8409-01A-11D-2310-10		32620439	126518224	37	44123											
SPDYE1	285955	broad.mit.edu	37	7	44046997	44046997	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr7:44046997delA	ENST00000258704.3	+	5	900	c.763delA	c.(763-765)aacfs	p.N255fs	RP5-1165K10.2_ENST00000454572.1_RNA|AC004951.6_ENST00000447643.1_lincRNA|POLR2J4_ENST00000427076.1_RNA	NM_001099435.2|NM_175064.2	NP_001092905.2|NP_778234.2	Q8NFV5	SPDE1_HUMAN	speedy/RINGO cell cycle regulator family member E1	255	Arg-rich.									endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	11						CCGTTCCATGAACCCGAGGGC	0.557																																																0													184	188	187					7																	44046997		2203	4300	6503	SO:0001589	frameshift_variant	285955			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.763delA	7.37:g.44046997delA	ENSP00000258704:p.Asn255fs		Q9NTH5	Frame_Shift_Del	DEL	ENST00000258704.3	37	CCDS5475.1																																																																																				0.557	SPDYE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250974.1	NM_175064		-	44046997	A	-	44046997	7	5	750	1	0	1	0	1	0	0	0	0	15034	246	9	0	781	0	SPDYE1	7	44046997	Frame_Shift_Del	DEL	A	TCGA-KO-8409-01A-11D-2310-10	11426558	44046997	115091666	38	44124											
TMEM120A	5447	broad.mit.edu;ucsc.edu;mdanderson.org	37	7	75617798	75617798	+	IGR	SNP	G	G	C	rs114564646	byFrequency	TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr7:75617798G>C	ENST00000461988.1	+	0	2522				TMEM120A_ENST00000493111.2_RNA|TMEM120A_ENST00000338761.4_RNA	NM_000941.2	NP_000932.3	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)	TGGTGAGGTAGAGCTTGAACT	0.647																																																0													137	150	146					7																	75617798		2102	4205	6307	SO:0001628	intergenic_variant	83862			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.75617798G>C			Q16455|Q197M5|Q8N181|Q9H3M8|Q9UDT3	Silent	SNP	ENST00000461988.1	37	CCDS5579.1																																																																																				0.647	POR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252796.7	NM_000941		C	75617798	G	C	75617798	1	2	750	0	1	0	0	0	0	0	0	0	16038	929	33	4		4	TMEM120A	7	75617798	IGR	SNP	G	TCGA-KO-8409-01A-11D-2310-10	31570801	75617798	83520865	39	44125											
ADAM22	53616	mdanderson.org	37	7	87564497	87564497	+	Missense_Mutation	SNP	C	C	G	rs2279542	byFrequency	TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr7:87564497C>G	ENST00000265727.7	+	2	321	c.242C>G	c.(241-243)cCg>cGg	p.P81R	ADAM22_ENST00000398201.4_Missense_Mutation_p.P81R|ADAM22_ENST00000398204.4_Missense_Mutation_p.P81R|ADAM22_ENST00000315984.7_Missense_Mutation_p.P81R|ADAM22_ENST00000439864.1_Missense_Mutation_p.P81R|ADAM22_ENST00000398209.3_Missense_Mutation_p.P81R			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	81			P -> R (in dbSNP:rs2279542). {ECO:0000269|PubMed:10524237, ECO:0000269|Ref.3}.		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)			CTCGGTGGCCCGCAGGTGAGA	0.701													G|||	3157	0.630391	0.9834	0.6282	5008	,	,		12450	0.5407		0.5229	False		,,,				2504	0.3579															0								G	ARG/PRO,ARG/PRO,ARG/PRO,ARG/PRO,ARG/PRO	3375,409		1523,329,40	10	12	11		242,242,242,242,242	-5.3	0	7	dbSNP_100	11	4227,3961		1120,1987,987	no	missense,missense,missense,missense,missense	ADAM22	NM_004194.3,NM_016351.4,NM_021721.3,NM_021722.4,NM_021723.3	103,103,103,103,103	2643,2316,1027	GG,GC,CC		48.3757,10.8087,36.5018	benign,benign,benign,benign,benign	81/860,81/871,81/824,81/900,81/907	87564497	7602,4370	1892	4094	5986	SO:0001583	missense	53616			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.242C>G	7.37:g.87564497C>G	ENSP00000265727:p.Pro81Arg		O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Missense_Mutation	SNP	ENST00000265727.7	37	CCDS47637.1	1379	0.6314102564102564	478	0.9715447154471545	215	0.5939226519337016	295	0.5157342657342657	391	0.5158311345646438	G	5.901	0.350386	0.11182	0.891913	0.516243	ENSG00000008277	ENST00000398204;ENST00000439864;ENST00000412441;ENST00000398201;ENST00000265727;ENST00000315984;ENST00000398209;ENST00000398203	T;T;T;T;T;T;T;T	0.15834	4.56;3.76;2.39;4.56;4.56;4.56;4.56;4.56	4.66	-5.26	0.02772	Peptidase M12B, propeptide (1);	1.669830	0.03048	N	0.154188	T	0.00012	0.0000	L	0.41356	1.27	0.80722	P	0.0	B;B;B;B;B;B	0.09022	0.001;0.001;0.002;0.0;0.0;0.0	B;B;B;B;B;B	0.13407	0.007;0.003;0.006;0.001;0.003;0.009	T	0.32955	-0.9887	9	0.10111	T	0.7	.	1.0673	0.01614	0.2217:0.3099:0.2591:0.2094	rs2279542;rs10374693;rs17252615;rs61662105;rs2279542	133;81;81;81;81;81	E9PBH5;Q9P0K1-5;Q9P0K1;Q9P0K1-2;E7EPF1;D6W5P7	.;.;ADA22_HUMAN;.;.;.	R	81;81;81;81;81;81;81;48	ENSP00000381262:P81R;ENSP00000391334:P81R;ENSP00000413899:P81R;ENSP00000381260:P81R;ENSP00000265727:P81R;ENSP00000315900:P81R;ENSP00000381267:P81R;ENSP00000381261:P48R	ENSP00000265727:P81R	P	+	2	0	ADAM22	87402433	0.000000	0.05858	0.007000	0.13788	0.753000	0.42808	-1.004000	0.03678	-1.699000	0.01416	-0.738000	0.03535	CCG		0.701	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268370.2	NM_021723		G	87564497	C	G	87564497	3	3	750	1	0	0	0	0	1	0	0	0	244	652	23	4	248	4	ADAM22	7	87564497	Missense_Mutation	SNP	C	TCGA-KO-8409-01A-11D-2310-10	11946699	87564497	71574166	40	44126											
SLC13A1	6561	bcgsc.ca	37	7	122759248	122759248	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr7:122759248A>G	ENST00000194130.2	-	13	1438	c.1399T>C	c.(1399-1401)Tca>Cca	p.S467P	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	467					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)	GCTGGTAATGAACCCAGAGGA	0.343																																																0													89	92	91					7																	122759248		2203	4300	6503	SO:0001583	missense	6561				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.1399T>C	7.37:g.122759248A>G	ENSP00000194130:p.Ser467Pro		Q9H5Z0	Missense_Mutation	SNP	ENST00000194130.2	37	CCDS5786.1	.	.	.	.	.	.	.	.	.	.	A	18.65	3.670342	0.67814	.	.	ENSG00000081800	ENST00000194130	T	0.03441	3.93	5.53	5.53	0.82687	.	0.346143	0.30752	N	0.008959	T	0.21962	0.0529	M	0.88031	2.925	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.987	T	0.01753	-1.1281	10	0.42905	T	0.14	-24.1496	14.821	0.70074	1.0:0.0:0.0:0.0	.	467;467	A4D0X1;Q9BZW2	.;S13A1_HUMAN	P	467	ENSP00000194130:S467P	ENSP00000194130:S467P	S	-	1	0	SLC13A1	122546484	0.993000	0.37304	1.000000	0.80357	0.987000	0.75469	3.066000	0.50002	2.094000	0.63399	0.482000	0.46254	TCA		0.343	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347404.1	NM_022444		G	122759248	A	G	122759248	3	3	750	1	0	0	0	0	1	0	0	0	14397	246	9	3	400	3	SLC13A1	7	122759248	Missense_Mutation	SNP	A	TCGA-KO-8409-01A-11D-2310-10	35194751	122759248	36379415	41	44127											
TNFRSF10B	8795	mdanderson.org	37	8	22926313	22926313	+	Missense_Mutation	SNP	G	G	A	rs1129424	byFrequency	TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr8:22926313G>A	ENST00000276431.4	-	1	379	c.95C>T	c.(94-96)cCc>cTc	p.P32L	TNFRSF10B_ENST00000347739.3_Missense_Mutation_p.P32L|TNFRSF10B_ENST00000542226.1_5'UTR|RP11-875O11.3_ENST00000520840.1_RNA|RP11-875O11.2_ENST00000501897.1_RNA	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN	tumor necrosis factor receptor superfamily, member 10b	32			P -> L (in dbSNP:rs1129424). {ECO:0000269|PubMed:10072170, ECO:0000269|PubMed:12975309, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005, ECO:0000269|PubMed:9242611, ECO:0000269|PubMed:9285725, ECO:0000269|PubMed:9325248, ECO:0000269|PubMed:9373179, ECO:0000269|PubMed:9430227, ECO:0000269|Ref.11}.		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)|cell surface receptor signaling pathway (GO:0007166)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to endoplasmic reticulum stress (GO:0034976)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|TRAIL binding (GO:0045569)			NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		GGGGACCCGGGGCCCAGGCCT	0.736													A|||	3753	0.749401	0.7753	0.7493	5008	,	,		13116	0.9107		0.5924	False		,,,				2504	0.7096				GBM(94;1064 1342 1839 21060 42553)											0								A	LEU/PRO,LEU/PRO	3291,1103		1260,771,166	13	16	15		95,95	0.1	0	8	dbSNP_86	15	5180,3384		1603,1974,705	yes	missense,missense	TNFRSF10B	NM_003842.4,NM_147187.2	98,98	2863,2745,871	AA,AG,GG		39.5142,25.1024,34.6273	benign,benign	32/441,32/412	22926313	8471,4487	2197	4282	6479	SO:0001583	missense	8795			AF012628	CCDS6035.1, CCDS6036.1	8p22-p21	2006-02-22			ENSG00000120889	ENSG00000120889		"Tumor necrosis factor receptor superfamily", "CD molecules"	11905	protein-coding gene	gene with protein product		603612				9285725, 9311998	Standard	NM_003842		Approved	DR5, KILLER, TRICK2A, TRAIL-R2, TRICKB, CD262	uc003xcu.2	O14763	OTTHUMG00000097826	ENST00000276431.4:c.95C>T	8.37:g.22926313G>A	ENSP00000276431:p.Pro32Leu		O14720|O15508|O15517|O15531|Q6UXM8|Q7Z360|Q9BVE0	Missense_Mutation	SNP	ENST00000276431.4	37	CCDS6035.1	1624	0.7435897435897436	384	0.7804878048780488	269	0.7430939226519337	520	0.9090909090909091	451	0.5949868073878628	a	0.028	-1.358005	0.01245	0.748976	0.604858	ENSG00000120889	ENST00000276431;ENST00000347739	T;D	0.83163	-1.44;-1.69	1.32	0.126	0.14722	.	0.377447	0.15516	N	0.258310	T	0.00012	0.0000	N	0.00321	-1.65	0.51482	P	7.900000000005125E-5	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.30851	-0.9964	9	0.07482	T	0.82	.	4.2483	0.10682	0.4549:0.0:0.5451:0.0	rs1129424;rs1805039;rs3187295;rs17088926;rs17855358;rs57417067	32;32	O14763;O14763-2	TR10B_HUMAN;.	L	32	ENSP00000276431:P32L;ENSP00000317859:P32L	ENSP00000276431:P32L	P	-	2	0	TNFRSF10B	22982258	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.111000	0.10807	-0.291000	0.09012	-0.521000	0.04368	CCC		0.736	TNFRSF10B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215099.2	NM_147187		A	22926313	G	A	22926313	3	1	750	1	0	0	0	0	1	0	0	0	16286	1232	43	2	1263	2	TNFRSF10B	8	22926313	Missense_Mutation	SNP	G	TCGA-KO-8409-01A-11D-2310-10		22926313	123437709	42	44128											
SLC20A2	6575	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	8	42294728	42294728	+	Silent	SNP	C	C	T			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr8:42294728C>T	ENST00000342228.3	-	8	1671	c.1302G>A	c.(1300-1302)tcG>tcA	p.S434S	SLC20A2_ENST00000520179.1_Silent_p.S434S|SLC20A2_ENST00000520262.1_Silent_p.S434S	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	434					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)			TACAGTAGCTCGAGTAGCTGT	0.652																																																0													65	61	62					8																	42294728		2203	4300	6503	SO:0001819	synonymous_variant	6575				CCDS6132.1	8p11.21	2013-05-22			ENSG00000168575	ENSG00000168575		"Solute carriers"	10947	protein-coding gene	gene with protein product		158378		MLVAR, GLVR2		7745689, 16790504	Standard	NM_001257180		Approved	PiT-2, Glvr-2	uc010lxm.4	Q08357	OTTHUMG00000164169	ENST00000342228.3:c.1302G>A	8.37:g.42294728C>T				Silent	SNP	ENST00000342228.3	37	CCDS6132.1																																																																																				0.652	SLC20A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377578.1			T	42294728	C	T	42294728	2	4	750	1	0	0	0	0	0	0	0	1	14445	871	31	1		1	SLC20A2	8	42294728	Silent	SNP	C	TCGA-KO-8409-01A-11D-2310-10	19368415	42294728	104069294	43	44129											
ZC3H3	23144	bcgsc.ca	37	8	144522319	144522319	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr8:144522319A>G	ENST00000262577.5	-	11	2738	c.2707T>C	c.(2707-2709)Tcc>Ccc	p.S903P		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	903					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)			AGCCTGTTGGAGCACGCTGCT	0.662																																																0													38	35	36					8																	144522319		2200	4299	6499	SO:0001583	missense	23144			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.2707T>C	8.37:g.144522319A>G	ENSP00000262577:p.Ser903Pro		Q14163|Q8N4E2|Q9BUS4	Missense_Mutation	SNP	ENST00000262577.5	37	CCDS6402.1	.	.	.	.	.	.	.	.	.	.	A	12.15	1.852730	0.32699	.	.	ENSG00000014164	ENST00000262577	T	0.03553	3.89	4.34	1.81	0.25067	.	0.853593	0.09930	N	0.737297	T	0.02767	0.0083	L	0.29908	0.895	0.09310	N	1	B	0.30584	0.286	B	0.24974	0.057	T	0.46898	-0.9158	10	0.87932	D	0	-2.9192	1.404	0.02276	0.5396:0.182:0.1024:0.1761	.	903	Q8IXZ2	ZC3H3_HUMAN	P	903	ENSP00000262577:S903P	ENSP00000262577:S903P	S	-	1	0	ZC3H3	144593462	0.977000	0.34250	0.029000	0.17559	0.277000	0.26821	0.933000	0.28897	0.087000	0.17167	0.383000	0.25322	TCC		0.662	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382011.2	NM_015117		G	144522319	A	G	144522319	3	3	750	1	0	0	0	0	1	0	0	0	17574	304	11	3	147	3	ZC3H3	8	144522319	Missense_Mutation	SNP	A	TCGA-KO-8409-01A-11D-2310-10	102227591	144522319	1841703	44	44130											
DMRTA1	63951	broad.mit.edu	37	9	22451467	22451468	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr9:22451467_22451468insA	ENST00000325870.2	+	2	1297_1298	c.1072_1073insA	c.(1072-1074)caafs	p.Q358fs		NM_022160.2	NP_071443.2	Q5VZB9	DMRTA_HUMAN	DMRT-like family A1	358					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)		GGATGTGGTCCAAGCCATTGAA	0.45																																																0																																										SO:0001589	frameshift_variant	63951			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.1074dupA	9.37:g.22451469_22451469dupA	ENSP00000319651:p.Gln358fs		A1L481|Q8N8Y9|Q9H4B9	Frame_Shift_Ins	INS	ENST00000325870.2	37	CCDS6514.1																																																																																				0.45	DMRTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051935.2			A	22451468	-	A	22451467	7	5	750	1	0	1	1	0	0	0	0	0	4590	595	21	0	1078	0	DMRTA1	9	22451467	Frame_Shift_Ins	INS	-	TCGA-KO-8409-01A-11D-2310-10		22451467	118761964	45	44131											
KIF24	347240	broad.mit.edu	37	9	34257343	34257344	+	Frame_Shift_Ins	INS	-	-	GGGG	rs376517927		TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr9:34257343_34257344insGGGG	ENST00000402558.2	-	10	2285_2286	c.2261_2262insCCCC	c.(2260-2262)ccgfs	p.P754fs	KIF24_ENST00000345050.2_Frame_Shift_Ins_p.P620fs|KIF24_ENST00000379174.3_Frame_Shift_Ins_p.P620fs|KIF24_ENST00000379166.2_Frame_Shift_Ins_p.P754fs			Q5T7B8	KIF24_HUMAN	kinesin family member 24	754					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)			TCTGATGTGGCGGGATGTTTGT	0.54																																																0																																										SO:0001589	frameshift_variant	347240			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.2261_2262insCCCC	9.37:g.34257343_34257344insGGGG	ENSP00000384433:p.Pro754fs		Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Frame_Shift_Ins	INS	ENST00000402558.2	37	CCDS6551.2																																																																																				0.54	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052150.5			GGGG	34257344	-	GGGG	34257343	7	5	750	1	0	1	1	0	0	0	0	0	8294	755	27	0	1856	0	KIF24	9	34257343	Frame_Shift_Ins	INS	-	TCGA-KO-8409-01A-11D-2310-10	11805876	34257343	106956088	46	44132											
COL5A1	1289	broad.mit.edu	37	9	137645718	137645719	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr9:137645718_137645719insG	ENST00000371817.3	+	15	2156_2157	c.1742_1743insG	c.(1741-1746)ttgaagfs	p.K582fs		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	582	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)		AGCGGAGGTTTGAAGGGCGAGC	0.658																																																0																																										SO:0001589	frameshift_variant	1289			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.1743dupG	9.37:g.137645719_137645719dupG	ENSP00000360882:p.Lys582fs		Q15094|Q5SUX4	Frame_Shift_Ins	INS	ENST00000371817.3	37	CCDS6982.1																																																																																				0.658	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		G	137645719	-	G	137645718	7	5	750	1	0	1	1	0	0	0	0	0	3698	1821	63	0	1800	0	COL5A1	9	137645718	Frame_Shift_Ins	INS	-	TCGA-KO-8409-01A-11D-2310-10	103388375	137645718	3567713	47	44133											
DPP7	29952	hgsc.bcm.edu	37	9	140008471	140008471	+	Missense_Mutation	SNP	C	C	T	rs138978681		TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr9:140008471C>T	ENST00000371579.2	-	4	335	c.331G>A	c.(331-333)Ggg>Agg	p.G111R		NM_013379.2	NP_037511.2	Q9UHL4	DPP2_HUMAN	dipeptidyl-peptidase 7	111						cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633)		AGCGACTTCCCGTAGTAGCGC	0.771													C|||	1	0.000199681	0.0	0.0	5008	,	,		3826	0.0		0.001	False		,,,				2504	0.0															0								C	ARG/GLY	1,4293		0,1,2146	12	12	12		331	4.1	1	9	dbSNP_134	12	4,8458		0,4,4227	no	missense	DPP7	NM_013379.2	125	0,5,6373	TT,TC,CC		0.0473,0.0233,0.0392	probably-damaging	111/493	140008471	5,12751	2147	4231	6378	SO:0001583	missense	29952			AF154502	CCDS7030.1	9q34.3	2008-02-05	2006-01-12		ENSG00000176978	ENSG00000176978			14892	protein-coding gene	gene with protein product		610537	"dipeptidylpeptidase 7"			10477574, 11139392	Standard	XM_005266075		Approved	DPPII	uc004clh.3	Q9UHL4	OTTHUMG00000020977	ENST00000371579.2:c.331G>A	9.37:g.140008471C>T	ENSP00000360635:p.Gly111Arg		A8K7U7|Q5VSF1|Q969X4	Missense_Mutation	SNP	ENST00000371579.2	37	CCDS7030.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.6|22.6	4.308878|4.308878	0.81247|0.81247	2.33E-4|2.33E-4	4.73E-4|4.73E-4	ENSG00000176978|ENSG00000176978	ENST00000371579|ENST00000443858	D|.	0.99732|.	-6.57|.	5.02|5.02	4.06|4.06	0.47325|0.47325	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84529|0.84529	0.5492|0.5492	H|H	0.96889|0.96889	3.9|3.9	0.44092|0.44092	D|D	0.996854|0.996854	D|D	0.76494|0.76494	0.999|0.999	D|P	0.70227|0.61132	0.968|0.884	D|D	0.88254|0.88254	0.2918|0.2918	10|8	0.87932|0.87932	D|D	0|0	-31.7857|-31.7857	10.5562|10.5562	0.45118|0.45118	0.0:0.8039:0.1961:0.0|0.0:0.8039:0.1961:0.0	.|.	111|134	Q9UHL4|E7EQS4	DPP2_HUMAN|.	R|Q	111|134	ENSP00000360635:G111R|.	ENSP00000360635:G111R|ENSP00000413492:R134Q	G|R	-|-	1|2	0|0	DPP7|DPP7	139128292|139128292	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.690000|0.690000	0.40134|0.40134	4.043000|4.043000	0.57354|0.57354	2.330000|2.330000	0.79161|0.79161	0.555000|0.555000	0.69702|0.69702	GGG|CGG		0.771	DPP7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055279.1	NM_013379		T	140008471	C	T	140008471	3	4	750	1	0	0	0	0	1	0	0	0	4733	652	23	1	1187	1	DPP7	9	140008471	Missense_Mutation	SNP	C	TCGA-KO-8409-01A-11D-2310-10	2362753	140008471	1204960	48	44134											
GPR158	57512	broad.mit.edu;ucsc.edu;mdanderson.org	37	10	25887315	25887315	+	Silent	SNP	C	C	G	rs369998736		TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr10:25887315C>G	ENST00000376351.3	+	11	3119	c.2760C>G	c.(2758-2760)acC>acG	p.T920T	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	920					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CTGGGAAAACCCAAACAGCAG	0.438																																																0								C		1,4405	2.1+/-5.4	0,1,2202	133	144	140		2760	1.6	1	10		140	0,8600		0,0,4300	no	coding-synonymous	GPR158	NM_020752.2		0,1,6502	GG,GC,CC		0.0,0.0227,0.0077		920/1216	25887315	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57512			AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"GPCR / Class C : Orphans"	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.2760C>G	10.37:g.25887315C>G			Q6QR81|Q9ULT3	Silent	SNP	ENST00000376351.3	37	CCDS31166.1																																																																																				0.438	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		G	25887315	C	G	25887315	2	3	750	1	0	0	0	0	0	0	0	1	6665	610	22	4		4	GPR158	10	25887315	Silent	SNP	C	TCGA-KO-8409-01A-11D-2310-10		25887315	109647432	49	44135											
MUC6	4588	mdanderson.org	37	11	1016885	1016885	+	Silent	SNP	A	A	C			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr11:1016885A>C	ENST00000421673.2	-	31	5966	c.5916T>G	c.(5914-5916)ccT>ccG	p.P1972P		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1972	Thr-rich.			P -> S (in Ref. 5; AAA35866). {ECO:0000305}.	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)		TGCTCCCTGTAGGTGGGGAGT	0.592																																																0													1108	1117	1114					11																	1016885		2203	4298	6501	SO:0001819	synonymous_variant	4588			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.5916T>G	11.37:g.1016885A>C			O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	CCDS44513.1																																																																																				0.592	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		C	1016885	A	C	1016885	2	2	750	1	0	0	0	0	0	0	0	1	9982	407	15	5		5	MUC6	11	1016885	Silent	SNP	A	TCGA-KO-8409-01A-11D-2310-10		1016885	133989631	50	44136											
MUC6	4588	mdanderson.org	37	11	1018341	1018341	+	Missense_Mutation	SNP	G	G	A	rs79748612		TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr11:1018341G>A	ENST00000421673.2	-	31	4510	c.4460C>T	c.(4459-4461)cCa>cTa	p.P1487L		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1487	Pro-rich.|Thr-rich.				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)		GAGCGTTGTTGGTGGAGGAAT	0.572																																																0													267	273	271					11																	1018341		2184	4268	6452	SO:0001583	missense	4588			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.4460C>T	11.37:g.1018341G>A	ENSP00000406861:p.Pro1487Leu		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	7.717	0.696448	0.15106	.	.	ENSG00000184956	ENST00000421673	T	0.20881	2.04	2.58	0.531	0.17108	.	.	.	.	.	T	0.18299	0.0439	L	0.47190	1.495	0.09310	N	1	B	0.19935	0.04	B	0.12156	0.007	T	0.20806	-1.0264	9	0.46703	T	0.11	.	9.5369	0.39229	0.0:0.0:0.7093:0.2907	.	1487	Q6W4X9	MUC6_HUMAN	L	1487	ENSP00000406861:P1487L	ENSP00000406861:P1487L	P	-	2	0	MUC6	1008341	0.000000	0.05858	0.001000	0.08648	0.049000	0.14656	0.540000	0.23191	-0.007000	0.14345	-1.159000	0.01794	CCA		0.572	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		A	1018341	G	A	1018341	3	1	750	1	0	0	0	0	1	0	0	0	9982	1348	47	2	2871	2	MUC6	11	1018341	Missense_Mutation	SNP	G	TCGA-KO-8409-01A-11D-2310-10	1456	1018341	133988175	51	44137											
MUC5B	727897	broad.mit.edu	37	11	1260210	1260211	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr11:1260210_1260211insC	ENST00000529681.1	+	26	3465_3466	c.3407_3408insC	c.(3406-3411)tgccacfs	p.H1137fs	MUC5B_ENST00000447027.1_Frame_Shift_Ins_p.H1140fs	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1137	Cys-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)		GCCCAGGCCTGCCACGACGCGG	0.678																																																0																																										SO:0001589	frameshift_variant	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.3409dupC	11.37:g.1260212_1260212dupC	ENSP00000436812:p.His1137fs		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Frame_Shift_Ins	INS	ENST00000529681.1	37	CCDS44515.2																																																																																				0.678	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		C	1260211	-	C	1260210	7	5	750	1	0	1	1	0	0	0	0	0	9981	1319	46	0	3518	0	MUC5B	11	1260210	Frame_Shift_Ins	INS	-	TCGA-KO-8409-01A-11D-2310-10	241869	1260210	133746306	52	44138											
UEVLD	55293	mdanderson.org	37	11	18579859	18579859	+	Missense_Mutation	SNP	C	C	A	rs199752573		TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr11:18579859C>A	ENST00000541984.1	-	5	393	c.331G>T	c.(331-333)Gtc>Ttc	p.V111F	UEVLD_ENST00000320750.6_Missense_Mutation_p.V189F|UEVLD_ENST00000543987.1_Missense_Mutation_p.V211F|UEVLD_ENST00000396197.3_Missense_Mutation_p.V211F|UEVLD_ENST00000535484.1_Missense_Mutation_p.V173F|UEVLD_ENST00000540666.1_5'UTR|UEVLD_ENST00000379387.4_Missense_Mutation_p.V189F	NM_001261386.1	NP_001248315.1			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						TCTAAGAGGACAAGCCTGTCT	0.423																																																0													103	84	90					11																	18579859		2199	4293	6492	SO:0001583	missense	55293			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	ENST00000541984.1:c.331G>T	11.37:g.18579859C>A	ENSP00000437538:p.Val111Phe			Missense_Mutation	SNP	ENST00000541984.1	37	CCDS58125.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.827481	0.50845	.	.	ENSG00000151116	ENST00000543987;ENST00000535484;ENST00000396197;ENST00000320750;ENST00000379387;ENST00000541984	D;D;D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5;-2.5;-2.5	5.53	3.63	0.41609	Lactate/malate dehydrogenase, N-terminal (1);NAD(P)-binding domain (1);	0.194259	0.44285	D	0.000473	D	0.94238	0.8150	M	0.91196	3.185	0.80722	D	1	D;P;D;D	0.58268	0.982;0.813;0.962;0.982	D;P;P;D	0.64144	0.922;0.566;0.785;0.922	D	0.93517	0.6858	10	0.87932	D	0	-7.0358	9.1174	0.36766	0.0:0.7685:0.1523:0.0792	.	189;189;211;211	B4DL43;Q8IX04-3;Q8IX04-2;Q8IX04	.;.;.;UEVLD_HUMAN	F	211;173;211;189;189;111	ENSP00000442974:V211F;ENSP00000441092:V173F;ENSP00000379500:V211F;ENSP00000323353:V189F;ENSP00000368697:V189F;ENSP00000437538:V111F	ENSP00000323353:V189F	V	-	1	0	UEVLD	18536435	0.994000	0.37717	0.988000	0.46212	0.248000	0.25809	2.161000	0.42358	0.662000	0.31006	0.591000	0.81541	GTC		0.423	UEVLD-015	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000395928.1	NM_018314		A	18579859	C	A	18579859	3	1	750	1	0	0	0	0	1	0	0	0	16938	478	17	4	808	4	UEVLD	11	18579859	Missense_Mutation	SNP	C	TCGA-KO-8409-01A-11D-2310-10	17319649	18579859	116426657	53	44139											
ANO5	203859	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	11	22291963	22291963	+	Silent	SNP	G	G	A			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr11:22291963G>A	ENST00000324559.8	+	18	2321	c.2004G>A	c.(2002-2004)ggG>ggA	p.G668G	ANO5_ENST00000532043.1_3'UTR	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	668					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GACCCCTTGGGCTTTTCTATG	0.418																																																0													163	167	166					11																	22291963		2203	4300	6503	SO:0001819	synonymous_variant	203859			AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	27337	protein-coding gene	gene with protein product		608662	"transmembrane protein 16E", "limb girdle muscular dystrophy 2L (autosomal recessive)"	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.2004G>A	11.37:g.22291963G>A				Silent	SNP	ENST00000324559.8	37	CCDS31444.1																																																																																				0.418	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599		A	22291963	G	A	22291963	2	1	750	1	0	0	0	0	0	0	0	1	700	1190	42	2		2	ANO5	11	22291963	Silent	SNP	G	TCGA-KO-8409-01A-11D-2310-10	3712104	22291963	112714553	54	44140											
ANO3	63982	broad.mit.edu;mdanderson.org	37	11	26465370	26465370	+	Silent	SNP	C	C	T	rs373465060		TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr11:26465370C>T	ENST00000256737.3	+	3	1152	c.300C>T	c.(298-300)agC>agT	p.S100S	ANO3_ENST00000525139.1_Silent_p.S84S|ANO3_ENST00000537978.1_Silent_p.S84S|ANO3_ENST00000531646.1_Silent_p.S100S	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	100					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						CTGACCTCAGCGATTTTTGTT	0.328																																																0													117	115	115					11																	26465370		2203	4300	6503	SO:0001819	synonymous_variant	63982			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.300C>T	11.37:g.26465370C>T			B7Z3F5	Silent	SNP	ENST00000256737.3	37	CCDS31447.1																																																																																				0.328	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		T	26465370	C	T	26465370	2	4	750	1	0	0	0	0	0	0	0	1	698	767	27	1		1	ANO3	11	26465370	Silent	SNP	C	TCGA-KO-8409-01A-11D-2310-10	4173407	26465370	108541146	55	44141											
KIF18A	81930	mdanderson.org	37	11	28119446	28119446	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr11:28119446G>A	ENST00000263181.6	-	2	339	c.49C>T	c.(49-51)Cgt>Tgt	p.R17C		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	17	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 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)	p.R17C(3)		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						GGACGTACACGAACTACTACT	0.363																																																3	Substitution - Missense(3)	large_intestine(3)											166	158	161					11																	28119446		2202	4299	6501	SO:0001583	missense	81930			AL136819	CCDS7867.1	11p14.1	2014-06-12			ENSG00000121621	ENSG00000121621		"Kinesins"	29441	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 99"	611271				11230166	Standard	NM_031217		Approved	DKFZP434G2226, PPP1R99	uc001msc.2	Q8NI77	OTTHUMG00000166195	ENST00000263181.6:c.49C>T	11.37:g.28119446G>A	ENSP00000263181:p.Arg17Cys		Q4VPE3|Q86VS5|Q9H0F3	Missense_Mutation	SNP	ENST00000263181.6	37	CCDS7867.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.537380	0.85917	.	.	ENSG00000121621	ENST00000263181	D	0.86694	-2.16	5.53	5.53	0.82687	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.96833	0.8966	H	0.99336	4.52	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	.	19.823	0.96605	0.0:0.0:1.0:0.0	.	17;17	B2R6H3;Q8NI77	.;KI18A_HUMAN	C	17	ENSP00000263181:R17C	ENSP00000263181:R17C	R	-	1	0	KIF18A	28076022	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.205000	0.77881	2.770000	0.95276	0.650000	0.86243	CGT		0.363	KIF18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388328.3	NM_031217		A	28119446	G	A	28119446	3	1	750	1	0	0	0	0	1	0	0	0	8282	1058	37	1	2711	1	KIF18A	11	28119446	Missense_Mutation	SNP	G	TCGA-KO-8409-01A-11D-2310-10	1654076	28119446	106887070	56	44142											
C11orf83	790955	bcgsc.ca	37	11	62439458	62439458	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr11:62439458G>A	ENST00000531323.1	+	3	697	c.154G>A	c.(154-156)Gag>Aag	p.E52K	C11orf83_ENST00000377953.3_Missense_Mutation_p.E52K|C11orf48_ENST00000354588.3_5'Flank|C11orf48_ENST00000431002.2_5'Flank|C11orf48_ENST00000532208.1_5'Flank			Q6UW78	CK083_HUMAN		52						extracellular region (GO:0005576)				cervix(1)|lung(1)|prostate(1)	3						GAGCAGGGAGGAGGCGGCCAG	0.667																																																0													24	32	29					11																	62439458		2188	4290	6478	SO:0001583	missense	790955																														ENST00000531323.1:c.154G>A	11.37:g.62439458G>A	ENSP00000432692:p.Glu52Lys		Q5FVD5	Missense_Mutation	SNP	ENST00000531323.1	37	CCDS41658.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.814661	0.50527	.	.	ENSG00000204922	ENST00000531323;ENST00000377953	.	.	.	5.08	3.17	0.36434	.	0.157554	0.38217	N	0.001763	T	0.40297	0.1111	.	.	.	0.09310	N	1	P	0.40180	0.705	B	0.41510	0.359	T	0.33343	-0.9872	8	0.87932	D	0	-13.4217	11.9872	0.53155	0.0:0.3702:0.6298:0.0	.	52	Q6UW78	CK083_HUMAN	K	52	.	ENSP00000367189:E52K	E	+	1	0	C11orf83	62196034	0.919000	0.31177	0.041000	0.18516	0.002000	0.02628	2.059000	0.41384	0.800000	0.34041	-0.211000	0.12701	GAG		0.667	C11orf83-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394992.2			A	62439458	G	A	62439458	3	1	750	1	0	0	0	0	1	0	0	0	1668	1175	41	2	160	2	C11orf83	11	62439458	Missense_Mutation	SNP	G	TCGA-KO-8409-01A-11D-2310-10	34320012	62439458	72567058	57	44143											
ORAOV1	220064	broad.mit.edu	37	11	69482297	69482297	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr11:69482297A>G	ENST00000535657.1	-	5	485	c.404T>C	c.(403-405)cTt>cCt	p.L135P	ORAOV1_ENST00000279147.4_Missense_Mutation_p.L135P|ORAOV1_ENST00000536870.1_Missense_Mutation_p.L76P|ORAOV1_ENST00000539414.1_3'UTR			Q8WV07	ORAV1_HUMAN	oral cancer overexpressed 1	135										NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5	all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;5.64e-57)|all cancers(3;5.98e-51)|BRCA - Breast invasive adenocarcinoma(2;5.49e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)			TCAAAATGAAAGTCCGGAACC	0.428																																																0													101	101	101					11																	69482297		2200	4294	6494	SO:0001583	missense	220064				CCDS8192.1	11q13.2	2010-11-23			ENSG00000149716	ENSG00000149716			17589	protein-coding gene	gene with protein product	"oral cancer overexpressed protein 1-A"	607224				12172009	Standard	NM_153451		Approved	TAOS1	uc001opc.3	Q8WV07		ENST00000535657.1:c.404T>C	11.37:g.69482297A>G	ENSP00000446129:p.Leu135Pro		B2R4R2|Q8NFK0	Missense_Mutation	SNP	ENST00000535657.1	37	CCDS8192.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.085253	0.76642	.	.	ENSG00000149716	ENST00000279147;ENST00000536870;ENST00000535657	T;T;T	0.58652	0.42;0.32;0.42	4.89	4.89	0.63831	.	0.219542	0.30920	N	0.008611	T	0.72882	0.3516	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;0.959	D;P	0.87578	0.998;0.503	T	0.75431	-0.3320	10	0.59425	D	0.04	.	13.0807	0.59112	1.0:0.0:0.0:0.0	.	76;135	F5GWS9;Q8WV07	.;ORAV1_HUMAN	P	135;76;135	ENSP00000279147:L135P;ENSP00000441984:L76P;ENSP00000446129:L135P	ENSP00000279147:L135P	L	-	2	0	ORAOV1	69191478	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	5.773000	0.68898	1.824000	0.53156	0.443000	0.29094	CTT		0.428	ORAOV1-009	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000396821.1	NM_153451		G	69482297	A	G	69482297	3	3	750	1	0	0	0	0	1	0	0	0	11262	72	3	3	13	3	ORAOV1	11	69482297	Missense_Mutation	SNP	A	TCGA-KO-8409-01A-11D-2310-10	7042839	69482297	65524219	58	44144											
TRPC6	7225	mdanderson.org	37	11	101454192	101454192	+	Missense_Mutation	SNP	G	G	A	rs3802829	byFrequency	TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr11:101454192G>A	ENST00000344327.3	-	1	467	c.43C>T	c.(43-45)Ccc>Tcc	p.P15S	RP11-748H22.1_ENST00000527374.1_RNA|TRPC6_ENST00000348423.4_Missense_Mutation_p.P15S|TRPC6_ENST00000532133.1_Missense_Mutation_p.P15S|TRPC6_ENST00000526713.1_Intron|TRPC6_ENST00000360497.4_Missense_Mutation_p.P15S	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	15					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)		GCGCCCCGGGGAGAACTGCCC	0.741													G|||	339	0.0676917	0.0038	0.0605	5008	,	,		10026	0.13		0.1064	False		,,,				2504	0.0552				Colon(166;1315 1927 11094 12848 34731)											0								G	SER/PRO	76,3982		3,70,1956	5	7	6		43	4.6	0.7	11	dbSNP_107	6	680,7230		20,640,3295	no	missense	TRPC6	NM_004621.5	74	23,710,5251	AA,AG,GG		8.5967,1.8728,6.3168	benign	15/932	101454192	756,11212	2029	3955	5984	SO:0001583	missense	7225			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.43C>T	11.37:g.101454192G>A	ENSP00000340913:p.Pro15Ser		Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	ENST00000344327.3	37	CCDS8311.1	178	0.0815018315018315	0	0.0	26	0.0718232044198895	73	0.12762237762237763	79	0.10422163588390501	G	10.08	1.252041	0.22880	0.018728	0.085967	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000348423;ENST00000360497	T;T;T;T	0.79141	-1.04;-1.13;-1.0;-1.24	4.61	4.61	0.57282	.	1.645960	0.03897	N	0.279764	T	0.01387	0.0045	N	0.08118	0	0.48236	P	3.809999999999647E-4	B;B;B	0.26512	0.151;0.151;0.093	B;B;B	0.32864	0.154;0.154;0.074	T	0.10291	-1.0636	9	0.20046	T	0.44	-1.4425	12.9414	0.58348	0.0:0.0:1.0:0.0	rs3802829	15;15;15	Q9Y210-3;Q9Y210-2;Q9Y210	.;.;TRPC6_HUMAN	S	15	ENSP00000340913:P15S;ENSP00000435574:P15S;ENSP00000343672:P15S;ENSP00000353687:P15S	ENSP00000340913:P15S	P	-	1	0	TRPC6	100959402	0.971000	0.33674	0.702000	0.30337	0.033000	0.12548	2.484000	0.45242	2.100000	0.63781	0.561000	0.74099	CCC		0.741	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	NM_004621		A	101454192	G	A	101454192	3	1	750	1	0	0	0	0	1	0	0	0	16588	1174	41	2	2804	2	TRPC6	11	101454192	Missense_Mutation	SNP	G	TCGA-KO-8409-01A-11D-2310-10	31971895	101454192	33552324	59	44145											
TAS2R50	259296	broad.mit.edu;mdanderson.org;bcgsc.ca	37	12	11139408	11139408	+	Missense_Mutation	SNP	C	C	A			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr12:11139408C>A	ENST00000506868.1	-	1	103	c.52G>T	c.(52-54)Gtt>Ttt	p.V18F	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176890.2	NP_795371.2	P59544	T2R50_HUMAN	taste receptor, type 2, member 50	18					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)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)	17						TTTCCGAGAACAAATAAAACC	0.338																																																0													41	48	45					12																	11139408		2199	4297	6496	SO:0001583	missense	259296			AF494235	CCDS8638.1	12p13.2	2012-08-22			ENSG00000212126	ENSG00000212126		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18882	protein-coding gene	gene with protein product		609627				12379855, 12584440, 16175505	Standard	NM_176890		Approved	T2R51	uc001qzl.2	P59544	OTTHUMG00000162719	ENST00000506868.1:c.52G>T	12.37:g.11139408C>A	ENSP00000424040:p.Val18Phe		P59545|Q2M255|Q645Y0	Missense_Mutation	SNP	ENST00000506868.1	37	CCDS8638.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.526332	0.27299	.	.	ENSG00000212126	ENST00000506868	T	0.39997	1.05	2.19	-1.66	0.08265	.	0.399174	0.17157	N	0.184841	T	0.30386	0.0763	L	0.45137	1.4	0.09310	N	1	B	0.33044	0.395	B	0.37943	0.261	T	0.21245	-1.0251	10	0.52906	T	0.07	.	3.705	0.08397	0.0:0.2865:0.4131:0.3004	.	18	P59544	T2R50_HUMAN	F	18	ENSP00000424040:V18F	ENSP00000424040:V18F	V	-	1	0	TAS2R50	11030675	0.000000	0.05858	0.002000	0.10522	0.166000	0.22503	-5.366000	0.00128	-0.130000	0.11599	0.313000	0.20887	GTT		0.338	TAS2R50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370192.2	NM_176890		A	11139408	C	A	11139408	3	1	750	1	0	0	0	0	1	0	0	0	15589	478	17	4	851	4	TAS2R50	12	11139408	Missense_Mutation	SNP	C	TCGA-KO-8409-01A-11D-2310-10		11139408	122712487	60	44146											
MYF6	4618	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	81102660	81102660	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr12:81102660G>A	ENST00000228641.3	+	3	872	c.650G>A	c.(649-651)cGa>cAa	p.R217Q		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	217					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						AGTAGCCTTCGATGCCTTTCT	0.522																																																0													171	148	156					12																	81102660		2203	4300	6503	SO:0001583	missense	4618				CCDS9019.1	12q21	2013-05-21				ENSG00000111046		"Basic helix-loop-helix proteins"	7566	protein-coding gene	gene with protein product	"muscle-specific regulatory factor 4"	159991				8978788	Standard	NM_002469		Approved	MRF4, bHLHc4	uc001szf.2	P23409		ENST00000228641.3:c.650G>A	12.37:g.81102660G>A	ENSP00000228641:p.Arg217Gln		B2R898|Q53X80|Q6FHI9	Missense_Mutation	SNP	ENST00000228641.3	37	CCDS9019.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.048748	0.36181	.	.	ENSG00000111046	ENST00000228641	D	0.95980	-3.87	5.6	4.7	0.59300	.	0.191189	0.46442	N	0.000289	D	0.91713	0.7380	L	0.43152	1.355	0.37091	D	0.899427	B	0.21147	0.052	B	0.08055	0.003	D	0.89343	0.3655	10	0.27785	T	0.31	-17.1862	11.6151	0.51086	0.0847:0.0:0.9153:0.0	.	217	P23409	MYF6_HUMAN	Q	217	ENSP00000228641:R217Q	ENSP00000228641:R217Q	R	+	2	0	MYF6	79626791	0.941000	0.31946	0.978000	0.43139	0.985000	0.73830	1.817000	0.39002	1.338000	0.45544	0.591000	0.81541	CGA		0.522	MYF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407756.1	NM_002469		A	81102660	G	A	81102660	3	1	750	1	0	0	0	0	1	0	0	0	10030	1058	37	1	660	1	MYF6	12	81102660	Missense_Mutation	SNP	G	TCGA-KO-8409-01A-11D-2310-10	69963252	81102660	52749235	61	44147											
C12orf51	283450	broad.mit.edu	37	12	112688161	112688162	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr12:112688161_112688162insC	ENST00000430131.2	-	24	3615_3616	c.2470_2471insG	c.(2470-2472)gccfs	p.A824fs	HECTD4_ENST00000377560.5_Frame_Shift_Ins_p.A1074fs|HECTD4_ENST00000550722.1_Frame_Shift_Ins_p.A1100fs			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	824					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)										CACGCCATTGGCCTCCACCTGC	0.525																																																0																																										SO:0001589	frameshift_variant	283450			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.2471dupG	12.37:g.112688163_112688163dupC	ENSP00000404379:p.Ala824fs		L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Frame_Shift_Ins	INS	ENST00000430131.2	37																																																																																					0.525	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		C	112688162	-	C	112688161	7	5	750	1	0	1	1	0	0	0	0	0	1698	1203	42	0	9727	0	C12orf51	12	112688161	Frame_Shift_Ins	INS	-	TCGA-KO-8409-01A-11D-2310-10	31585501	112688161	21163734	62	44148											
PSPC1	55269	mdanderson.org	37	13	20279923	20279923	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr13:20279923A>G	ENST00000338910.4	-	8	1424	c.1265T>C	c.(1264-1266)aTg>aCg	p.M422T		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	422	Gly-rich.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		ATTCATACCCATCATTGGAGG	0.468																																																0													145	149	148					13																	20279923		1886	4123	6009	SO:0001583	missense	55269			AK001817	CCDS41870.1	13q11	2013-02-12			ENSG00000121390	ENSG00000121390		"RNA binding motif (RRM) containing"	20320	protein-coding gene	gene with protein product		612408				11790299	Standard	NM_001042414		Approved	PSP1, FLJ10955	uc021rgx.1	Q8WXF1	OTTHUMG00000016502	ENST00000338910.4:c.1265T>C	13.37:g.20279923A>G	ENSP00000343966:p.Met422Thr		Q5JTQ3|Q8NCZ9|Q8WXE8|Q9NV36	Missense_Mutation	SNP	ENST00000338910.4	37	CCDS41870.1	.	.	.	.	.	.	.	.	.	.	A	12.20	1.865591	0.32977	.	.	ENSG00000121390	ENST00000338910;ENST00000422828	T	0.14640	2.49	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.21347	0.0514	L	0.46157	1.445	0.58432	D	0.999996	P	0.40431	0.717	P	0.49047	0.599	T	0.02109	-1.1212	10	0.22706	T	0.39	-8.3789	15.2195	0.73299	1.0:0.0:0.0:0.0	.	422	Q8WXF1	PSPC1_HUMAN	T	422;362	ENSP00000343966:M422T	ENSP00000343966:M422T	M	-	2	0	PSPC1	19177923	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.224000	0.89781	2.001000	0.58596	0.402000	0.26972	ATG		0.468	PSPC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044037.2			G	20279923	A	G	20279923	3	3	750	1	0	0	0	0	1	0	0	0	12721	217	8	3	314	3	PSPC1	13	20279923	Missense_Mutation	SNP	A	TCGA-KO-8409-01A-11D-2310-10		20279923	94889955	63	44149											
POTEG	404785	broad.mit.edu	37	14	19553498	19553499	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr14:19553498_19553499insG	ENST00000409832.3	+	1	134_135	c.82_83insG	c.(82-84)tgcfs	p.C28fs		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	28										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GGGCAAGTGGTGCCGCCACTGC	0.574																																																0																																										SO:0001589	frameshift_variant	404785				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.83dupG	14.37:g.19553499_19553499dupG	ENSP00000386971:p.Cys28fs		A1L153|A6NMI9|Q6S5H6|Q6S8J2	Frame_Shift_Ins	INS	ENST00000409832.3	37	CCDS32018.1																																																																																				0.574	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		G	19553499	-	G	19553498	7	5	750	1	0	1	1	0	0	0	0	0	12268	1696	59	0	84	0	POTEG	14	19553498	Frame_Shift_Ins	INS	-	TCGA-KO-8409-01A-11D-2310-10		19553498	87796042	64	44150											
LRFN5	145581	broad.mit.edu	37	14	42356435	42356435	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr14:42356435A>G	ENST00000298119.4	+	3	1796	c.607A>G	c.(607-609)Aca>Gca	p.T203A	LRFN5_ENST00000554120.1_Missense_Mutation_p.T203A|LRFN5_ENST00000554171.1_Missense_Mutation_p.T203A	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	203						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)		GTTAGATGTGACATCAAATAA	0.428										HNSCC(30;0.082)																																						0													71	65	67					14																	42356435		2203	4300	6503	SO:0001583	missense	145581			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.607A>G	14.37:g.42356435A>G	ENSP00000298119:p.Thr203Ala		B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	A	17.11	3.305424	0.60305	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.51071	0.72;0.72;0.72	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000018	T	0.43500	0.1250	N	0.02334	-0.595	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.996	T	0.58752	-0.7581	10	0.45353	T	0.12	.	13.6661	0.62396	1.0:0.0:0.0:0.0	.	203;203	G3V364;Q96NI6	.;LRFN5_HUMAN	A	203	ENSP00000298119:T203A;ENSP00000451897:T203A;ENSP00000451067:T203A	ENSP00000298119:T203A	T	+	1	0	LRFN5	41426185	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.324000	0.96373	2.098000	0.63641	0.528000	0.53228	ACA		0.428	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		G	42356435	A	G	42356435	3	3	750	1	0	0	0	0	1	0	0	0	8943	275	10	3	609	3	LRFN5	14	42356435	Missense_Mutation	SNP	A	TCGA-KO-8409-01A-11D-2310-10	22802937	42356435	64993105	65	44151											
YLPM1	56252	broad.mit.edu	37	14	75248591	75248592	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr14:75248591_75248592insC	ENST00000552421.1	+	4	1969_1970	c.1845_1846insC	c.(1846-1848)ccafs	p.P616fs	YLPM1_ENST00000325680.7_Frame_Shift_Ins_p.P616fs|YLPM1_ENST00000238571.3_Intron			P49750	YLPM1_HUMAN	YLP motif containing 1	0					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)		CAACAGCACCTCCACCTGTCAT	0.579																																																0																																										SO:0001589	frameshift_variant	56252			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	ENST00000552421.1:c.1847dupC	14.37:g.75248593_75248593dupC	ENSP00000447921:p.Pro616fs		P49752|Q96I64|Q9P1V7	Frame_Shift_Ins	INS	ENST00000552421.1	37																																																																																					0.579	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589		C	75248592	-	C	75248591	7	5	750	1	0	1	1	0	0	0	0	0	17491	1538	54	0	1859	0	YLPM1	14	75248591	Frame_Shift_Ins	INS	-	TCGA-KO-8409-01A-11D-2310-10	32892156	75248591	32100949	66	44152											
KIAA1737	85457	hgsc.bcm.edu	37	14	77580242	77580243	+	Frame_Shift_Ins	INS	-	-	C	rs74069038		TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr14:77580242_77580243insC	ENST00000361786.2	+	4	1098_1099	c.781_782insC	c.(781-783)tccfs	p.S261fs	RP11-463C8.4_ENST00000557752.1_Intron	NM_033426.2	NP_219494.2	Q9C0C6	CIPC_HUMAN		261					negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(2)|lung(4)|prostate(3)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)		GACCTTCGCTTCCCCCGCCAGT	0.564																																																0																																										SO:0001589	frameshift_variant	85457																														ENST00000361786.2:c.786dupC	14.37:g.77580247_77580247dupC	ENSP00000355319:p.Ser261fs		B2RCI1|Q8N389|Q8NDZ1	Frame_Shift_Ins	INS	ENST00000361786.2	37	CCDS9855.1																																																																																				0.564	KIAA1737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414278.1			C	77580243	-	C	77580242	7	5	750	1	0	1	1	0	0	0	0	0	8257	1783	62	0	791	0	KIAA1737	14	77580242	Frame_Shift_Ins	INS	-	TCGA-KO-8409-01A-11D-2310-10	2331651	77580242	29769298	67	44153											
PPP1R13B	23368	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	14	104205041	104205041	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr14:104205041C>T	ENST00000202556.9	-	14	3121	c.2839G>A	c.(2839-2841)Gtg>Atg	p.V947M	PPP1R13B_ENST00000423488.2_Missense_Mutation_p.V366M|PPP1R13B_ENST00000555391.1_5'UTR	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	947					intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				GCAGCATTCACGTTGACACCA	0.542																																																0													142	150	147					14																	104205041		2149	4265	6414	SO:0001583	missense	23368			AB018314	CCDS41997.1	14q32.33	2013-01-10	2011-10-04		ENSG00000088808	ENSG00000088808		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	14950	protein-coding gene	gene with protein product		606455	"protein phosphatase 1, regulatory (inhibitor) subunit 13B"			9872452	Standard	NM_015316		Approved	p53BP2-like, KIAA0771, p85, ASPP1	uc001yof.1	Q96KQ4	OTTHUMG00000171647	ENST00000202556.9:c.2839G>A	14.37:g.104205041C>T	ENSP00000202556:p.Val947Met		B2RMX5|O94870	Missense_Mutation	SNP	ENST00000202556.9	37	CCDS41997.1	.	.	.	.	.	.	.	.	.	.	C	32	5.169936	0.94768	.	.	ENSG00000088808	ENST00000202556;ENST00000423488	T;T	0.69685	-0.35;-0.42	5.25	5.25	0.73442	Src homology-3 domain (1);Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.80904	0.4713	M	0.62088	1.915	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82118	-0.0615	10	0.87932	D	0	.	19.0309	0.92957	0.0:1.0:0.0:0.0	.	947	Q96KQ4	ASPP1_HUMAN	M	947;366	ENSP00000202556:V947M;ENSP00000395213:V366M	ENSP00000202556:V947M	V	-	1	0	PPP1R13B	103274794	1.000000	0.71417	0.980000	0.43619	0.905000	0.53344	7.528000	0.81941	2.744000	0.94065	0.561000	0.74099	GTG		0.542	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414591.1	NM_015316		T	104205041	C	T	104205041	3	4	750	1	0	0	0	0	1	0	0	0	12362	536	19	1	449	1	PPP1R13B	14	104205041	Missense_Mutation	SNP	C	TCGA-KO-8409-01A-11D-2310-10	26624799	104205041	3144499	68	44154											
PLA2G4D	283748	broad.mit.edu	37	15	42362217	42362218	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr15:42362217_42362218insG	ENST00000290472.3	-	19	2213_2214	c.2119_2120insC	c.(2119-2121)cagfs	p.Q707fs		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	707	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)		TGGCTGGTGCTGGTCCTGAGGG	0.688																																																0																																										SO:0001589	frameshift_variant	283748			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.2120dupC	15.37:g.42362219_42362219dupG	ENSP00000290472:p.Gln707fs		Q8N176	Frame_Shift_Ins	INS	ENST00000290472.3	37	CCDS32203.1																																																																																				0.688	PLA2G4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419317.1	NM_178034		G	42362218	-	G	42362217	7	5	750	1	0	1	1	0	0	0	0	0	12006	1580	55	0	344	0	PLA2G4D	15	42362217	Frame_Shift_Ins	INS	-	TCGA-KO-8409-01A-11D-2310-10		42362217	60169175	69	44155											
C15orf48	84419	broad.mit.edu	37	15	45723237	45723238	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr15:45723237_45723238insG	ENST00000344300.3	+	2	265_266	c.75_76insG	c.(76-78)ggafs	p.G26fs	C15orf48_ENST00000396650.2_Frame_Shift_Ins_p.G26fs|RP11-519G16.5_ENST00000559553.1_RNA|MIR147B_ENST00000390185.1_RNA	NM_032413.3	NP_115789.1	Q9C002	NMES1_HUMAN	chromosome 15 open reading frame 48	26						mitochondrion (GO:0005739)|nucleus (GO:0005634)				large_intestine(1)|lung(2)|ovary(1)	4		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.67e-16)|GBM - Glioblastoma multiforme(94;1.71e-06)		TGGCGGCGGGTGGAGCCTCATC	0.416																																																0																																										SO:0001589	frameshift_variant	84419				CCDS10124.1	15q21.1	2014-05-29			ENSG00000166920	ENSG00000166920			29898	protein-coding gene	gene with protein product	"normal mucosa of esophagus specific 1"	608409				12209954	Standard	NM_032413		Approved	NMES1	uc001zvh.4	Q9C002	OTTHUMG00000131424	ENST00000344300.3:c.77dupG	15.37:g.45723239_45723239dupG	ENSP00000341610:p.Gly26fs			Frame_Shift_Ins	INS	ENST00000344300.3	37	CCDS10124.1																																																																																				0.416	C15orf48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254217.2	NM_032413		G	45723238	-	G	45723237	7	5	750	1	0	1	1	0	0	0	0	0	1801	1683	59	0	81	0	C15orf48	15	45723237	Frame_Shift_Ins	INS	-	TCGA-KO-8409-01A-11D-2310-10	3361020	45723237	56808155	70	44156											
FAM154B	283726	broad.mit.edu;mdanderson.org;bcgsc.ca	37	15	82564044	82564044	+	Missense_Mutation	SNP	C	C	T	rs150372195		TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr15:82564044C>T	ENST00000339465.5	+	2	223	c.154C>T	c.(154-156)Cgg>Tgg	p.R52W	FAM154B_ENST00000565432.1_Missense_Mutation_p.R65W|FAM154B_ENST00000565501.1_3'UTR|FAM154B_ENST00000427381.2_Missense_Mutation_p.R37W	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN	family with sequence similarity 154, member B	52										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						TACCTACAAACGGGATTTGAA	0.408																																																0								C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	92	83	86		154	4	1	15	dbSNP_134	86	0,8600		0,0,4300	no	missense	FAM154B	NM_001008226.1	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	52/399	82564044	1,13005	2203	4300	6503	SO:0001583	missense	283726			AL833762	CCDS32310.1	15q25.2	2008-02-21				ENSG00000188659			33727	protein-coding gene	gene with protein product							Standard	XM_005254317		Approved	DKFZp666G057	uc002bgv.3	Q658L1		ENST00000339465.5:c.154C>T	15.37:g.82564044C>T	ENSP00000340445:p.Arg52Trp		B4E2M2	Missense_Mutation	SNP	ENST00000339465.5	37	CCDS32310.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.192179	0.58017	2.27E-4	0.0	ENSG00000188659	ENST00000339465;ENST00000427381	T;T	0.18810	2.19;2.19	4.98	3.99	0.46301	.	0.434099	0.19405	N	0.115064	T	0.35856	0.0946	M	0.65975	2.015	0.21933	N	0.999469	D;D	0.67145	0.996;0.996	P;P	0.56648	0.802;0.803	T	0.10042	-1.0647	10	0.66056	D	0.02	-1.3395	11.0297	0.47765	0.3549:0.6451:0.0:0.0	.	37;52	B4E2M2;Q658L1	.;F154B_HUMAN	W	52;37	ENSP00000340445:R52W;ENSP00000403743:R37W	ENSP00000340445:R52W	R	+	1	2	FAM154B	80351099	0.586000	0.26782	0.982000	0.44146	0.533000	0.34776	3.035000	0.49759	2.481000	0.83766	0.591000	0.81541	CGG		0.408	FAM154B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419644.1	NM_001008226		T	82564044	C	T	82564044	3	4	750	1	0	0	0	0	1	0	0	0	5466	527	19	1	160	1	FAM154B	15	82564044	Missense_Mutation	SNP	C	TCGA-KO-8409-01A-11D-2310-10	36840807	82564044	19967348	71	44157											
ZSCAN10	84891	broad.mit.edu	37	16	3140487	3140488	+	Frame_Shift_Ins	INS	-	-	C	rs140902087		TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr16:3140487_3140488insC	ENST00000252463.2	-	5	869_870	c.782_783insG	c.(781-783)ggcfs	p.G261fs	ZSCAN10_ENST00000538082.2_Frame_Shift_Ins_p.G179fs|ZSCAN10_ENST00000575108.1_5'UTR	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	261					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						CTTCACCAGGGCCGCTAGCCGC	0.639																																																0																																										SO:0001589	frameshift_variant	84891			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.783dupG	16.37:g.3140489_3140489dupC	ENSP00000252463:p.Gly261fs		B3KQD3|H0YFS6|Q1WWM2	Frame_Shift_Ins	INS	ENST00000252463.2	37	CCDS10493.1																																																																																				0.639	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437124.2	NM_032805		C	3140488	-	C	3140487	7	5	750	1	0	1	1	0	0	0	0	0	18232	1190	42	0	1398	0	ZSCAN10	16	3140487	Frame_Shift_Ins	INS	-	TCGA-KO-8409-01A-11D-2310-10		3140487	87214266	72	44158											
EARS2	124454	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	16	23546345	23546345	+	Silent	SNP	C	C	A			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr16:23546345C>A	ENST00000563459.1	-	4	828	c.822G>T	c.(820-822)ctG>ctT	p.L274L	EARS2_ENST00000564987.1_5'UTR|EARS2_ENST00000449606.1_Silent_p.L274L|EARS2_ENST00000564501.1_Silent_p.L274L|EARS2_ENST00000563232.1_Silent_p.L274L			Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2, mitochondrial	274					gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|tRNA aminoacylation for mitochondrial protein translation (GO:0070127)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|glutamate-tRNA(Gln) ligase activity (GO:0050561)|tRNA binding (GO:0000049)			central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)		GGAGCAGGGGCAGGTGGGCGA	0.627																																																0													31	35	34					16																	23546345		2092	4227	6319	SO:0001819	synonymous_variant	124454			AB075850	CCDS42132.1	16p12.2	2014-05-06	2012-10-26		ENSG00000103356	ENSG00000103356	6.1.1.17	"Aminoacyl tRNA synthetases / Class I"	29419	protein-coding gene	gene with protein product	"glutamate tRNA ligase 2, mitochondrial"	612799	"glutamyl-tRNA synthetase 2, mitochondrial (putative)"			15779907, 19805282, 22492562	Standard	NM_001083614		Approved	KIAA1970, MSE1	uc002dlt.4	Q5JPH6	OTTHUMG00000177018	ENST00000563459.1:c.822G>T	16.37:g.23546345C>A			B3KTT2|D3DWF1|Q86YH3|Q8TF31	Silent	SNP	ENST00000563459.1	37	CCDS42132.1																																																																																				0.627	EARS2-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434844.1	NM_133451		A	23546345	C	A	23546345	2	1	750	1	0	0	0	0	0	0	0	1	4880	697	25	4		4	EARS2	16	23546345	Silent	SNP	C	TCGA-KO-8409-01A-11D-2310-10	20405858	23546345	66808408	73	44159											
BCAR1	9564	mdanderson.org	37	16	75269477	75269477	+	Silent	SNP	A	A	C	rs61729595	byFrequency	TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr16:75269477A>C	ENST00000162330.5	-	5	1446	c.1320T>G	c.(1318-1320)tcT>tcG	p.S440S	BCAR1_ENST00000420641.3_Silent_p.S458S|BCAR1_ENST00000393422.2_Silent_p.S458S|BCAR1_ENST00000546196.1_Silent_p.S411S|BCAR1_ENST00000538440.2_Silent_p.S440S|BCAR1_ENST00000542031.2_Silent_p.S438S|BCAR1_ENST00000393420.6_Silent_p.S458S|BCAR1_ENST00000535626.2_Silent_p.S292S|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000418647.3_Silent_p.S486S	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	440	Ser-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)	p.S458S(1)|p.S440S(1)		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)		AGGAGGACGCAGACTGGCTGC	0.701													A|||	169	0.033746	0.003	0.0375	5008	,	,		15021	0.001		0.0855	False		,,,				2504	0.0532															2	Substitution - coding silent(2)	prostate(2)						A	,,,,,,,,	69,4303		0,69,2117	10	15	13		1458,1374,1374,1374,1320,1314,876,690,1320	-7.5	0	16	dbSNP_129	13	590,7978		14,562,3708	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	BCAR1	NM_001170714.1,NM_001170715.1,NM_001170716.1,NM_001170717.1,NM_001170718.1,NM_001170719.1,NM_001170720.1,NM_001170721.1,NM_014567.3	,,,,,,,,	14,631,5825	CC,CA,AA		6.8861,1.5782,5.0927	,,,,,,,,	486/917,458/889,458/889,458/889,440/871,438/869,292/723,230/661,440/871	75269477	659,12281	2186	4284	6470	SO:0001819	synonymous_variant	9564			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.1320T>G	16.37:g.75269477A>C			B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Silent	SNP	ENST00000162330.5	37	CCDS10915.1																																																																																				0.701	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269017.1	NM_014567		C	75269477	A	C	75269477	2	2	750	1	0	0	0	0	0	0	0	1	1348	175	7	5		5	BCAR1	16	75269477	Silent	SNP	A	TCGA-KO-8409-01A-11D-2310-10	51723132	75269477	15085276	74	44160											
BANP	54971	mdanderson.org	37	16	88105725	88105725	+	Silent	SNP	G	G	A	rs8050209	byFrequency	TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr16:88105725G>A	ENST00000393207.1	+	13	1616	c.1395G>A	c.(1393-1395)gcG>gcA	p.A465A	BANP_ENST00000393208.2_Silent_p.A437A|BANP_ENST00000479780.2_Silent_p.A412A|BANP_ENST00000355163.5_Silent_p.A443A|BANP_ENST00000286122.7_Silent_p.A465A|BANP_ENST00000538234.1_Silent_p.A454A|BANP_ENST00000355022.4_Silent_p.A415A|BANP_ENST00000481948.1_3'UTR	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	465					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of protein catabolic process (GO:0042177)|protein localization to nucleus (GO:0034504)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		ACCCCGCGGCGGCGGGCGTGG	0.706													g|||	2278	0.454872	0.525	0.3804	5008	,	,		14347	0.3016		0.5388	False		,,,				2504	0.4847															0								A	,,,,,,	2401,1967		708,985,491	13	14	14		1353,1329,1236,1362,1395,1245,1311	-11.6	0	16	dbSNP_116	14	4625,3925		1296,2033,946	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	BANP	NM_001173539.1,NM_001173540.1,NM_001173541.1,NM_001173542.1,NM_001173543.1,NM_017869.3,NM_079837.2	,,,,,,	2004,3018,1437	AA,AG,GG		45.9064,45.0321,45.6108	,,,,,,	451/506,443/498,412/467,454/509,465/520,415/470,437/492	88105725	7026,5892	2184	4275	6459	SO:0001819	synonymous_variant	54971			AK094158	CCDS10966.2, CCDS42215.1, CCDS54052.1, CCDS54053.1, CCDS54054.1	16q24	2012-11-22			ENSG00000172530	ENSG00000172530		"BEN domain containing"	13450	protein-coding gene	gene with protein product	"BEN domain containing 1"	611564				10940556, 10950932	Standard	NM_017869		Approved	SMARBP1, SMAR1, FLJ20538, DKFZp761H172, FLJ10177, BEND1	uc010vow.2	Q8N9N5	OTTHUMG00000137678	ENST00000393207.1:c.1395G>A	16.37:g.88105725G>A			A8MU25|A8MX25|B2RCF7|B4DNJ9|F5GZM0|Q96GJ7|Q9NWY1	Silent	SNP	ENST00000393207.1	37	CCDS54054.1																																																																																				0.706	BANP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269166.1	NM_017869		A	88105725	G	A	88105725	2	1	750	1	0	0	0	0	0	0	0	1	1310	1103	39	1		1	BANP	16	88105725	Silent	SNP	G	TCGA-KO-8409-01A-11D-2310-10	12836248	88105725	2249028	75	44161											
PELP1	27043	broad.mit.edu	37	17	4575433	4575433	+	Silent	SNP	C	C	T	rs201455361	byFrequency	TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr17:4575433C>T	ENST00000574876.1	-	16	2870	c.2853G>A	c.(2851-2853)gaG>gaA	p.E951E	PELP1_ENST00000436683.2_Silent_p.E804E|PELP1_ENST00000269230.7_Silent_p.E861E|PELP1_ENST00000572293.1_Silent_p.E1001E|PELP1_ENST00000301396.4_Silent_p.E1095E			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	951	Glu-rich.				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						cttcctcctcctcatcctcct	0.498																																																0													60	65	63					17																	4575433		2079	4157	6236	SO:0001819	synonymous_variant	27043				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.2853G>A	17.37:g.4575433C>T			O15450|Q5EGN3|Q6NTE6|Q96FT1|Q9BU60	Silent	SNP	ENST00000574876.1	37	CCDS58503.1																																																																																				0.498	PELP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000439140.2	NM_014389		T	4575433	C	T	4575433	2	4	750	1	0	0	0	0	0	0	0	1	11727	680	24	2		2	PELP1	17	4575433	Silent	SNP	C	TCGA-KO-8409-01A-11D-2310-10		4575433	76619777	76	44162											
CCDC144A	9720	broad.mit.edu	37	17	16665752	16665753	+	Frame_Shift_Ins	INS	-	-	A	rs200919178		TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr17:16665752_16665753insA	ENST00000360524.8	+	14	3868_3869	c.3792_3793insA	c.(3793-3795)caafs	p.Q1265fs	CCDC144A_ENST00000399273.1_Frame_Shift_Ins_p.Q1265fs|CCDC144A_ENST00000456009.1_Frame_Shift_Ins_p.Q1031fs|CCDC144A_ENST00000443444.2_Frame_Shift_Ins_p.Q1265fs|RP11-219A15.1_ENST00000448331.3_Frame_Shift_Ins_p.Q1265fs	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	1265																	TAAAAACTTCGCAAGCCGACTT	0.347																																																0																																										SO:0001589	frameshift_variant	9720			BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	Exception_encountered	17.37:g.16665752_16665753insA	ENSP00000353717:p.Gln1265fs		O60311|Q6ZU57	Frame_Shift_Ins	INS	ENST00000360524.8	37	CCDS45621.1																																																																																				0.347	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444093.1			A	16665753	-	A	16665752	7	5	750	1	0	1	1	0	0	0	0	0	2779	1074	38	0	3846	0	CCDC144A	17	16665752	Frame_Shift_Ins	INS	-	TCGA-KO-8409-01A-11D-2310-10	12090319	16665752	64529458	77	44163											
KRTAP9-2	83899	mdanderson.org	37	17	39383027	39383027	+	Missense_Mutation	SNP	G	G	T	rs71371478	byFrequency	TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr17:39383027G>T	ENST00000377721.3	+	1	128	c.121G>T	c.(121-123)Gcc>Tcc	p.A41S	KRTAP9-2_ENST00000455970.2_Missense_Mutation_p.A41S	NM_031961.2	NP_114167.2	Q9BYQ4	KRA92_HUMAN	keratin associated protein 9-2	41	17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP].					keratin filament (GO:0045095)		p.A41S(1)		large_intestine(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CTGCCAGCCCGCCTGCTGTGT	0.637																																																1	Substitution - Missense(1)	skin(1)											59	53	55					17																	39383027		2203	4300	6503	SO:0001583	missense	83899			AJ406946	CCDS32651.1	17q21.2	2013-06-25			ENSG00000239886	ENSG00000239886		"Keratin associated proteins"	16926	protein-coding gene	gene with protein product						11279113	Standard	NM_031961		Approved	KAP9.2	uc002hwf.3	Q9BYQ4	OTTHUMG00000133609	ENST00000377721.3:c.121G>T	17.37:g.39383027G>T	ENSP00000366950:p.Ala41Ser		Q17RK8|Q2TB15|Q6ISF6	Missense_Mutation	SNP	ENST00000377721.3	37	CCDS32651.1	.	.	.	.	.	.	.	.	.	.	.	0.006	-2.020245	0.00418	.	.	ENSG00000239886	ENST00000377721;ENST00000455970	T;T	0.01192	5.2;5.4	2.86	-2.81	0.05805	.	.	.	.	.	T	0.00328	0.0010	N	0.00368	-1.59	0.09310	N	0.999997	B	0.02656	0.0	B	0.01281	0.0	T	0.39742	-0.9599	9	0.02654	T	1	.	5.0512	0.14508	0.3642:0.0:0.0934:0.5425	.	41	Q9BYQ4	KRA92_HUMAN	S	41	ENSP00000366950:A41S;ENSP00000398325:A41S	ENSP00000366950:A41S	A	+	1	0	KRTAP9-2	36636553	0.000000	0.05858	0.088000	0.20740	0.203000	0.24098	-1.973000	0.01500	-1.243000	0.02519	-4.519000	0.00005	GCC		0.637	KRTAP9-2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257717.1			T	39383027	G	T	39383027	3	4	750	1	0	0	0	0	1	0	0	0	8575	1087	38	4	123	4	KRTAP9-2	17	39383027	Missense_Mutation	SNP	G	TCGA-KO-8409-01A-11D-2310-10	22717275	39383027	41812183	78	44164											
CDC27	996	mdanderson.org	37	17	45234432	45234432	+	Missense_Mutation	SNP	G	G	T	rs201187810		TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr17:45234432G>T	ENST00000066544.3	-	7	782	c.689C>A	c.(688-690)tCc>tAc	p.S230Y	CDC27_ENST00000446365.2_Missense_Mutation_p.S169Y|CDC27_ENST00000531206.1_Missense_Mutation_p.S230Y|CDC27_ENST00000527547.1_Missense_Mutation_p.S230Y|CDC27_ENST00000528748.1_5'UTR	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	230					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						AGACACTGAGGAATCTGTATT	0.318																																																0													36	40	38					17																	45234432		2180	4286	6466	SO:0001583	missense	996			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.689C>A	17.37:g.45234432G>T	ENSP00000066544:p.Ser230Tyr		G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.939804	0.52972	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547;ENST00000526866	T;T;T;T;T	0.68479	-0.33;-0.31;-0.12;-0.33;0.82	5.44	5.44	0.79542	.	0.065886	0.64402	D	0.000007	T	0.55816	0.1944	N	0.19112	0.55	0.58432	D	0.999999	P;B;B;P	0.45283	0.855;0.011;0.043;0.855	B;B;B;B	0.41510	0.359;0.008;0.02;0.271	T	0.63292	-0.6670	10	0.66056	D	0.02	-14.3838	16.7505	0.85484	0.0:0.0:1.0:0.0	.	169;230;230;230	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	Y	230;230;169;230;230	ENSP00000066544:S230Y;ENSP00000434614:S230Y;ENSP00000392802:S169Y;ENSP00000437339:S230Y;ENSP00000432105:S230Y	ENSP00000066544:S230Y	S	-	2	0	CDC27	42589431	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.204000	0.77872	2.555000	0.86185	0.460000	0.39030	TCC		0.318	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			T	45234432	G	T	45234432	3	4	750	1	0	0	0	0	1	0	0	0	3068	1174	41	4	1855	4	CDC27	17	45234432	Missense_Mutation	SNP	G	TCGA-KO-8409-01A-11D-2310-10	5851405	45234432	35960778	79	44165											
TTLL6	284076	broad.mit.edu	37	17	46847199	46847202	+	Frame_Shift_Del	DEL	CATG	CATG	-			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	CATG	CATG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr17:46847199_46847202delCATG	ENST00000393382.3	-	14	2439_2442	c.2298_2301delCATG	c.(2296-2301)gacatgfs	p.DM766fs	TTLL6_ENST00000433608.2_Frame_Shift_Del_p.DM459fs	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						GTGGCTTGTTCATGTCACTCTTTA	0.451																																																0																																										SO:0001589	frameshift_variant	284076			AK093127	CCDS11537.2, CCDS45724.1	17q21.32	2013-02-14			ENSG00000170703	ENSG00000170703		"Tubulin tyrosine ligase-like family"	26664	protein-coding gene	gene with protein product		610849				15890843	Standard	NM_173623		Approved	FLJ35808	uc021tzm.1	Q8N841	OTTHUMG00000156978	ENST00000393382.3:c.2298_2301delCATG	17.37:g.46847199_46847202delCATG	ENSP00000377043:p.Asp766fs			Frame_Shift_Del	DEL	ENST00000393382.3	37	CCDS45724.1																																																																																				0.451	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346939.3	NM_173623		-	46847202	CATG	-	46847199	7	5	750	1	0	1	0	1	0	0	0	0	16736	826	29	0	382	0	TTLL6	17	46847199	Frame_Shift_Del	DEL	CATG	TCGA-KO-8409-01A-11D-2310-10	1612767	46847199	34348011	80	44166											
LPO	4025	ucsc.edu	37	17	56343529	56343529	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr17:56343529T>C	ENST00000262290.4	+	11	1851	c.1535T>C	c.(1534-1536)cTg>cCg	p.L512P	LPO_ENST00000421678.2_Missense_Mutation_p.L429P|LPO_ENST00000543544.1_Missense_Mutation_p.L453P|LPO_ENST00000582328.1_Missense_Mutation_p.L429P	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	512					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)	p.L512Q(1)		breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						ATTGATCCTCTGGTGCGGGGC	0.527																																																1	Substitution - Missense(1)	lung(1)											52	45	48					17																	56343529		2203	4300	6503	SO:0001583	missense	4025			M58151	CCDS32689.1, CCDS54149.1	17q23.1	2008-02-05				ENSG00000167419	1.11.1.7		6678	protein-coding gene	gene with protein product		150205				2222811, 8964511	Standard	NM_006151		Approved	SPO	uc002ivt.3	P22079		ENST00000262290.4:c.1535T>C	17.37:g.56343529T>C	ENSP00000262290:p.Leu512Pro		A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Missense_Mutation	SNP	ENST00000262290.4	37	CCDS32689.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.424191	0.83667	.	.	ENSG00000167419	ENST00000262290;ENST00000421678;ENST00000543544;ENST00000389576	T;T;T	0.73469	-0.75;-0.75;-0.75	6.06	6.06	0.98353	.	0.132210	0.51477	D	0.000081	D	0.90386	0.6991	H	0.95574	3.69	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.93004	0.6426	10	0.87932	D	0	-20.5675	15.7966	0.78416	0.0:0.0:0.0:1.0	.	429;512	E7EMJ3;P22079	.;PERL_HUMAN	P	512;429;453;257	ENSP00000262290:L512P;ENSP00000400245:L429P;ENSP00000445344:L453P	ENSP00000262290:L512P	L	+	2	0	LPO	53698528	0.453000	0.25721	0.998000	0.56505	0.997000	0.91878	3.968000	0.56809	2.315000	0.78130	0.533000	0.62120	CTG		0.527	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443961.1			C	56343529	T	C	56343529	3	2	750	1	0	0	0	0	1	0	0	0	8924	1580	55	3	1573	3	LPO	17	56343529	Missense_Mutation	SNP	T	TCGA-KO-8409-01A-11D-2310-10	9496330	56343529	24851681	81	44167											
TEX14	56155	bcgsc.ca	37	17	56649410	56649410	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr17:56649410A>G	ENST00000240361.8	-	25	3812	c.3727T>C	c.(3727-3729)Tct>Cct	p.S1243P	TEX14_ENST00000349033.5_Missense_Mutation_p.S1197P|TEX14_ENST00000389934.3_Missense_Mutation_p.S1237P			Q8IWB6	TEX14_HUMAN	testis expressed 14	1243					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)					TTCCAGCAAGAGGCAAACTCT	0.418																																																0													102	102	102					17																	56649410		2203	4300	6503	SO:0001583	missense	56155			AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"cancer/testis antigen 113"	605792	"testis expressed sequence 14"			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.3727T>C	17.37:g.56649410A>G	ENSP00000240361:p.Ser1243Pro		A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	ENST00000240361.8	37	CCDS56042.1	.	.	.	.	.	.	.	.	.	.	A	12.70	2.016712	0.35606	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	T;T;T	0.22539	1.95;1.95;1.95	4.83	4.83	0.62350	.	0.204155	0.35067	N	0.003470	T	0.36276	0.0961	L	0.56769	1.78	0.09310	N	1	D;D;D	0.65815	0.991;0.986;0.995	P;P;P	0.61800	0.786;0.814;0.894	T	0.12344	-1.0551	10	0.45353	T	0.12	-3.6102	10.7272	0.46074	1.0:0.0:0.0:0.0	.	1243;1197;1237	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	P	1243;1237;1197	ENSP00000240361:S1243P;ENSP00000374584:S1237P;ENSP00000268910:S1197P	ENSP00000240361:S1243P	S	-	1	0	TEX14	54004409	0.810000	0.29049	0.007000	0.13788	0.020000	0.10135	2.738000	0.47401	2.039000	0.60335	0.459000	0.35465	TCT		0.418	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1			G	56649410	A	G	56649410	3	3	750	1	0	0	0	0	1	0	0	0	15783	304	11	3	802	3	TEX14	17	56649410	Missense_Mutation	SNP	A	TCGA-KO-8409-01A-11D-2310-10	305881	56649410	24545800	82	44168											
GAA	2548	broad.mit.edu	37	17	78086495	78086495	+	Missense_Mutation	SNP	G	G	T			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr17:78086495G>T	ENST00000302262.3	+	13	2092	c.1873G>T	c.(1873-1875)Gcc>Tcc	p.A625S	GAA_ENST00000390015.3_Missense_Mutation_p.A625S	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	625					cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	GGAGCAGCTCGCCTCCTCCGT	0.687																																																0													14	14	14					17																	78086495		2196	4290	6486	SO:0001583	missense	2548				CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"Pompe disease", "glycogen storage disease type II"	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.1873G>T	17.37:g.78086495G>T	ENSP00000305692:p.Ala625Ser		Q09GN4|Q14351|Q16302|Q8IWE7	Missense_Mutation	SNP	ENST00000302262.3	37	CCDS32760.1	.	.	.	.	.	.	.	.	.	.	G	6.601	0.479270	0.12581	.	.	ENSG00000171298	ENST00000302262;ENST00000390015	D;D	0.93133	-3.17;-3.17	4.97	-3.35	0.04928	Glycoside hydrolase, superfamily (1);	0.610435	0.18363	N	0.143511	D	0.89008	0.6593	L	0.49126	1.545	0.09310	N	1	B	0.16166	0.016	B	0.19666	0.026	T	0.73294	-0.4028	10	0.17832	T	0.49	-22.522	16.4366	0.83877	0.0:0.0:0.16:0.84	.	625	P10253	LYAG_HUMAN	S	625	ENSP00000305692:A625S;ENSP00000374665:A625S	ENSP00000305692:A625S	A	+	1	0	GAA	75701090	0.000000	0.05858	0.003000	0.11579	0.004000	0.04260	0.004000	0.13106	-0.282000	0.09128	-0.397000	0.06425	GCC		0.687	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437441.1			T	78086495	G	T	78086495	3	4	750	1	0	0	0	0	1	0	0	0	6149	1087	38	4	1919	4	GAA	17	78086495	Missense_Mutation	SNP	G	TCGA-KO-8409-01A-11D-2310-10	21437085	78086495	3108715	83	44169											
LAMA1	284217	broad.mit.edu	37	18	6949154	6949155	+	Frame_Shift_Ins	INS	-	-	C	rs35759306		TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr18:6949154_6949155insC	ENST00000389658.3	-	59	8594_8595	c.8501_8502insG	c.(8500-8502)ggtfs	p.G2834fs		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2834	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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)				GGTAGAACAAACCCTCCACATC	0.48																																																0																																										SO:0001589	frameshift_variant	284217			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.8502dupG	18.37:g.6949157_6949157dupC	ENSP00000374309:p.Gly2834fs			Frame_Shift_Ins	INS	ENST00000389658.3	37	CCDS32787.1																																																																																				0.48	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		C	6949155	-	C	6949154	7	5	750	1	0	1	1	0	0	0	0	0	8607	30	2	0	745	0	LAMA1	18	6949154	Frame_Shift_Ins	INS	-	TCGA-KO-8409-01A-11D-2310-10		6949154	71128094	84	44170											
ADAMTS10	81794	broad.mit.edu	37	19	8650351	8650352	+	Frame_Shift_Ins	INS	-	-	T			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr19:8650351_8650352insT	ENST00000597188.1	-	23	3123_3124	c.2853_2854insA	c.(2851-2856)ctcgacfs	p.D952fs	ADAMTS10_ENST00000270328.4_Frame_Shift_Ins_p.D952fs|AC130469.2_ENST00000597256.1_RNA|ADAMTS10_ENST00000595838.1_Frame_Shift_Ins_p.D439fs	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	952	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.					extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						TCAGACCAGTCGAGGGCCGCCC	0.713																																																0																																										SO:0001589	frameshift_variant	81794			AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"ADAM metallopeptidases with thrombospondin type 1 motif"	13201	protein-coding gene	gene with protein product		608990	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.2853_2854insA	19.37:g.8650351_8650352insT	ENSP00000471851:p.Asp952fs		M0QZE4	Frame_Shift_Ins	INS	ENST00000597188.1	37	CCDS12206.1																																																																																				0.713	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3	NM_030957		T	8650352	-	T	8650351	7	5	750	1	0	1	1	0	0	0	0	0	256	884	31	0	473	0	ADAMTS10	19	8650351	Frame_Shift_Ins	INS	-	TCGA-KO-8409-01A-11D-2310-10		8650351	50478632	85	44171											
HOOK2	29911	mdanderson.org	37	19	12876964	12876964	+	Missense_Mutation	SNP	G	G	C	rs897804	byFrequency	TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr19:12876964G>C	ENST00000397668.3	-	15	1537	c.1464C>G	c.(1462-1464)caC>caG	p.H488Q	HOOK2_ENST00000589965.1_Intron|HOOK2_ENST00000264827.5_Missense_Mutation_p.H488Q	NM_013312.2	NP_037444.2	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	488	Sufficient for interaction with microtubules.		H -> Q (in dbSNP:rs897804). {ECO:0000269|PubMed:15489334}.		early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	centrosome (GO:0005813)|FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						CATCCTCCAGGTGGCGCTGCA	0.706											OREG0025273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1086	0.216853	0.0325	0.2939	5008	,	,		12044	0.2321		0.4394	False		,,,				2504	0.1667															0								G	GLN/HIS,GLN/HIS	323,3541		20,283,1629	10	13	12		1464,1464	3.7	1	19	dbSNP_87	12	3246,5000		672,1902,1549	no	missense,missense	HOOK2	NM_001100176.1,NM_013312.2	24,24	692,2185,3178	CC,CG,GG		39.3645,8.3592,29.4715	benign,benign	488/718,488/720	12876964	3569,8541	1932	4123	6055	SO:0001583	missense	29911			AF044924	CCDS42507.1, CCDS42508.1	19p13.2	2013-08-21	2013-08-21						19885	protein-coding gene	gene with protein product		607824	"hook homolog 2 (Drosophila)"			9927460	Standard	NM_013312		Approved	HK2	uc002muy.2	Q96ED9		ENST00000397668.3:c.1464C>G	19.37:g.12876964G>C	ENSP00000380785:p.His488Gln	683	O60562	Missense_Mutation	SNP	ENST00000397668.3	37	CCDS42508.1	599	0.2742673992673993	19	0.03861788617886179	120	0.3314917127071823	121	0.21153846153846154	339	0.4472295514511873	G	13.50	2.255926	0.39896	0.083592	0.393645	ENSG00000095066	ENST00000397668;ENST00000264827	T;T	0.15718	2.4;2.4	4.77	3.69	0.42338	.	0.449885	0.22723	N	0.056436	T	0.00012	0.0000	N	0.04959	-0.14	0.32618	P	0.5237350000000001	B;B	0.15473	0.01;0.013	B;B	0.14023	0.006;0.01	T	0.47935	-0.9078	9	0.20046	T	0.44	-30.7248	6.3	0.21107	0.1135:0.3067:0.5798:0.0	rs897804;rs17850914;rs897804	488;488	Q96ED9-2;Q96ED9	.;HOOK2_HUMAN	Q	488	ENSP00000380785:H488Q;ENSP00000264827:H488Q	ENSP00000264827:H488Q	H	-	3	2	HOOK2	12737964	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	1.363000	0.34159	2.174000	0.68829	0.467000	0.42956	CAC		0.706	HOOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451008.1	NM_013312		C	12876964	G	C	12876964	3	2	750	1	0	0	0	0	1	0	0	0	7285	1252	44	4	731	4	HOOK2	19	12876964	Missense_Mutation	SNP	G	TCGA-KO-8409-01A-11D-2310-10	4226613	12876964	46252019	86	44172											
MAP1S	55201	broad.mit.edu	37	19	17838792	17838793	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr19:17838792_17838793insC	ENST00000324096.4	+	5	2750_2751	c.2599_2600insC	c.(2599-2601)gccfs	p.A867fs	CTD-3149D2.4_ENST00000595363.1_RNA|MAP1S_ENST00000544059.2_Frame_Shift_Ins_p.A841fs|MAP1S_ENST00000597681.1_3'UTR	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	867	Necessary for association with microtubules.|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						GAAGCCCCTGGCCCGCCCCAAC	0.668																																																0																																										SO:0001589	frameshift_variant	55201			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.2602dupC	19.37:g.17838795_17838795dupC	ENSP00000325313:p.Ala867fs		B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Frame_Shift_Ins	INS	ENST00000324096.4	37	CCDS32954.1																																																																																				0.668	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466027.1	NM_018174		C	17838793	-	C	17838792	7	5	750	1	0	1	1	0	0	0	0	0	9236	1203	42	0	2617	0	MAP1S	19	17838792	Frame_Shift_Ins	INS	-	TCGA-KO-8409-01A-11D-2310-10	4961828	17838792	41290191	87	44173											
ACTN4	81	mdanderson.org;bcgsc.ca	37	19	39217630	39217630	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr19:39217630A>G	ENST00000252699.2	+	18	2300	c.2224A>G	c.(2224-2226)Acc>Gcc	p.T742A	ACTN4_ENST00000390009.3_Missense_Mutation_p.T523A|ACTN4_ENST00000424234.2_Missense_Mutation_p.T352A	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	742	Mediates interaction with MICALL2. {ECO:0000250}.				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)			GCTGCTCACCACCATTGCCCG	0.637																																					Colon(168;199 1940 10254 46213 46384)											0													98	73	82					19																	39217630		2203	4300	6503	SO:0001583	missense	81			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.2224A>G	19.37:g.39217630A>G	ENSP00000252699:p.Thr742Ala		A4K467|D6PXK4|O76048	Missense_Mutation	SNP	ENST00000252699.2	37	CCDS12518.1	.	.	.	.	.	.	.	.	.	.	A	18.16	3.563257	0.65538	.	.	ENSG00000130402	ENST00000252699;ENST00000424234;ENST00000390009;ENST00000440400	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	4.04	4.04	0.47022	.	0.000000	0.85682	D	0.000000	T	0.38957	0.1060	L	0.59912	1.85	0.58432	D	0.999998	B	0.02656	0.0	B	0.15484	0.013	T	0.27088	-1.0084	10	0.34782	T	0.22	.	12.4041	0.55430	1.0:0.0:0.0:0.0	.	742	O43707	ACTN4_HUMAN	A	742;352;523;178	ENSP00000252699:T742A;ENSP00000411187:T352A;ENSP00000439497:T523A;ENSP00000398393:T178A	ENSP00000252699:T742A	T	+	1	0	ACTN4	43909470	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.087000	0.94110	1.823000	0.53134	0.402000	0.26972	ACC		0.637	ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268091.1			G	39217630	A	G	39217630	3	3	750	1	0	0	0	0	1	0	0	0	207	159	6	3	2294	3	ACTN4	19	39217630	Missense_Mutation	SNP	A	TCGA-KO-8409-01A-11D-2310-10	21378838	39217630	19911353	88	44174											
EID2B	126272	mdanderson.org	37	19	40023308	40023308	+	Silent	SNP	A	A	G	rs1123301	byFrequency	TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr19:40023308A>G	ENST00000326282.4	-	1	186	c.135T>C	c.(133-135)gcT>gcC	p.A45A	EID2B_ENST00000601837.1_Intron|CTB-60E11.9_ENST00000594676.1_RNA	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)			GGCCTTCCCGAGCCTCCTGCA	0.751													.|||	4013	0.801318	0.8646	0.6484	5008	,	,		13555	0.8442		0.7425	False		,,,				2504	0.8405															0								G		3691,533		1630,431,51	7	9	8		135	0	0	19	dbSNP_86	8	6168,2264		2313,1542,361	no	coding-synonymous	EID2B	NM_152361.1		3943,1973,412	GG,GA,AA		26.8501,12.6184,22.1002		45/162	40023308	9859,2797	2112	4216	6328	SO:0001819	synonymous_variant	126272			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.135T>C	19.37:g.40023308A>G				Silent	SNP	ENST00000326282.4	37	CCDS12539.1																																																																																				0.751	EID2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464961.1	NM_152361		G	40023308	A	G	40023308	2	3	750	1	0	0	0	0	0	0	0	1	4990	291	11	3		3	EID2B	19	40023308	Silent	SNP	A	TCGA-KO-8409-01A-11D-2310-10	805678	40023308	19105675	89	44175											
FUZ	80199	broad.mit.edu	37	19	50312460	50312461	+	Frame_Shift_Ins	INS	-	-	G	rs527949286		TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr19:50312460_50312461insG	ENST00000313777.4	-	7	908_909	c.745_746insC	c.(745-747)ctcfs	p.L249fs	AC006942.4_ENST00000600669.1_RNA|FUZ_ENST00000534008.1_5'Flank|FUZ_ENST00000445575.2_Frame_Shift_Ins_p.L249fs|FUZ_ENST00000528094.1_Frame_Shift_Ins_p.L213fs|FUZ_ENST00000533418.1_Frame_Shift_Ins_p.L199fs	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN	fuzzy planar cell polarity protein	249	Leu-rich.				cilium assembly (GO:0042384)|embryonic body morphogenesis (GO:0010172)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of planar polarity (GO:0001736)|hair follicle development (GO:0001942)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)|negative regulation of neural crest formation (GO:0090301)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|positive regulation of cilium assembly (GO:0045724)|protein transport (GO:0015031)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|lung(3)	4		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		CGGCCCGCAGAGTAGACACAGC	0.673																																																0																																										SO:0001589	frameshift_variant	80199			BC016793	CCDS12781.1, CCDS54293.1	19q13.33	2013-03-05	2013-03-05			ENSG00000010361			26219	protein-coding gene	gene with protein product		610622	"fuzzy homolog (Drosophila)"			21761479	Standard	NM_001171937		Approved	FLJ22688, Fy	uc002ppq.2	Q9BT04		ENST00000313777.4:c.746dupC	19.37:g.50312461_50312461dupG	ENSP00000313309:p.Leu249fs		B2RD86|B5MDH0|Q6PJY0|Q9H613	Frame_Shift_Ins	INS	ENST00000313777.4	37	CCDS12781.1																																																																																				0.673	FUZ-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393986.1	NM_025129		G	50312461	-	G	50312460	7	5	750	1	0	1	1	0	0	0	0	0	6114	304	11	0	530	0	FUZ	19	50312460	Frame_Shift_Ins	INS	-	TCGA-KO-8409-01A-11D-2310-10	10289152	50312460	8816523	90	44176											
SIGLEC11	114132	ucsc.edu	37	19	50455564	50455564	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr19:50455564A>G	ENST00000447370.2	-	9	1829	c.1739T>C	c.(1738-1740)gTc>gCc	p.V580A	CTC-326K19.6_ENST00000451973.1_Intron|U3_ENST00000408198.1_RNA|SIGLEC11_ENST00000426971.2_Missense_Mutation_p.V484A	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	580					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			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)		CCTGAAGACGACAAGGCAGGA	0.622																																																0													79	79	79					19																	50455564		2203	4300	6503	SO:0001583	missense	114132			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.1739T>C	19.37:g.50455564A>G	ENSP00000412361:p.Val580Ala			Missense_Mutation	SNP	ENST00000447370.2	37	CCDS12790.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.712|9.712	1.157369|1.157369	0.21454|0.21454	.|.	.|.	ENSG00000161640|ENSG00000161640	ENST00000426971|ENST00000447370;ENST00000458019	.|T	.|0.56275	.|0.47	3.32|3.32	2.29|2.29	0.28610|0.28610	.|.	.|1.243010	.|0.05875	.|N	.|0.625446	T|T	0.40546|0.40546	0.1121|0.1121	L|L	0.38175|0.38175	1.15|1.15	0.09310|0.09310	N|N	1|1	.|B;B	.|0.22746	.|0.003;0.074	.|B;B	.|0.15870	.|0.014;0.01	T|T	0.23013|0.23013	-1.0200|-1.0200	5|10	.|0.25751	.|T	.|0.34	.|.	5.4248|5.4248	0.16419|0.16419	0.8566:0.0:0.1434:0.0|0.8566:0.0:0.1434:0.0	.|.	.|484;580	.|Q96RL6-2;Q96RL6	.|.;SIG11_HUMAN	P|A	474|580;484	.|ENSP00000412361:V580A	.|ENSP00000412361:V580A	S|V	-|-	1|2	0|0	SIGLEC11|SIGLEC11	55147376|55147376	0.003000|0.003000	0.15002|0.15002	0.003000|0.003000	0.11579|0.11579	0.001000|0.001000	0.01503|0.01503	0.734000|0.734000	0.26101|0.26101	0.441000|0.441000	0.26529|0.26529	0.379000|0.379000	0.24179|0.24179	TCG|GTC		0.622	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347382.1	NM_052884		G	50455564	A	G	50455564	3	3	750	1	0	0	0	0	1	0	0	0	14313	275	10	3	369	3	SIGLEC11	19	50455564	Missense_Mutation	SNP	A	TCGA-KO-8409-01A-11D-2310-10	143104	50455564	8673419	91	44177											
NLRP13	126204	broad.mit.edu	37	19	56424477	56424477	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr19:56424477delT	ENST00000342929.3	-	5	705	c.706delA	c.(706-708)aggfs	p.R236fs	NLRP13_ENST00000588751.1_Frame_Shift_Del_p.R236fs	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	236	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		ACCCCTGCCCTCCCCACCAAG	0.502																																																0													114	116	115					19																	56424477		2203	4300	6503	SO:0001589	frameshift_variant	126204			AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"Nucleotide-binding domain and leucine rich repeat containing"	22937	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"	609660	"NACHT, leucine rich repeat and PYD containing 13"	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.706delA	19.37:g.56424477delT	ENSP00000343891:p.Arg236fs		Q7RTR5	Frame_Shift_Del	DEL	ENST00000342929.3	37	CCDS33119.1																																																																																				0.502	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		-	56424477	T	-	56424477	7	5	750	1	0	1	0	1	0	0	0	0	10477	1550	54	0	2451	0	NLRP13	19	56424477	Frame_Shift_Del	DEL	T	TCGA-KO-8409-01A-11D-2310-10	5968913	56424477	2704506	92	44178											
ZNF552	79818	mdanderson.org	37	19	58320162	58320162	+	Missense_Mutation	SNP	G	G	A	rs576029108	byFrequency	TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr19:58320162G>A	ENST00000391701.1	-	3	639	c.470C>T	c.(469-471)gCg>gTg	p.A157V	ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598885.1_Intron	NM_024762.3	NP_079038.2	Q9H707	ZN552_HUMAN	zinc finger protein 552	157					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(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11		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;0.0259)		ACACCTCTTCGCAAACAACGC	0.478													G|||	2	0.000399361	0.0015	0.0	5008	,	,		21428	0.0		0.0	False		,,,				2504	0.0															0													162	155	157					19																	58320162		2203	4300	6503	SO:0001583	missense	79818			AK097041	CCDS12963.1	19q13.43	2013-09-20			ENSG00000178935	ENSG00000178935		"Zinc fingers, C2H2-type", "-"	26135	protein-coding gene	gene with protein product							Standard	XM_005259267		Approved	FLJ21603	uc002qqg.3	Q9H707	OTTHUMG00000183478	ENST00000391701.1:c.470C>T	19.37:g.58320162G>A	ENSP00000375582:p.Ala157Val		B3KUE9|Q6P5A6	Missense_Mutation	SNP	ENST00000391701.1	37	CCDS12963.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.870767	0.00542	.	.	ENSG00000178935	ENST00000391701	T	0.04083	3.71	1.96	-0.803	0.10886	.	.	.	.	.	T	0.01592	0.0051	N	0.04043	-0.29	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.46665	-0.9175	9	0.02654	T	1	.	2.7839	0.05368	0.6156:0.0:0.163:0.2214	.	153;157	B7Z1H1;Q9H707	.;ZN552_HUMAN	V	157	ENSP00000375582:A157V	ENSP00000375582:A157V	A	-	2	0	ZNF552	63011974	0.000000	0.05858	0.002000	0.10522	0.029000	0.11900	-0.431000	0.06965	0.022000	0.15160	-1.451000	0.01035	GCG		0.478	ZNF552-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466829.1	NM_024762		A	58320162	G	A	58320162	3	1	750	1	0	0	0	0	1	0	0	0	17989	1087	38	1	757	1	ZNF552	19	58320162	Missense_Mutation	SNP	G	TCGA-KO-8409-01A-11D-2310-10	1895685	58320162	808821	93	44179											
C19orf18	147685	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	58472845	58472845	+	Missense_Mutation	SNP	T	T	G			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr19:58472845T>G	ENST00000314391.3	-	5	547	c.446A>C	c.(445-447)gAt>gCt	p.D149A		NM_152474.4	NP_689687.1	Q8NEA5	CS018_HUMAN	chromosome 19 open reading frame 18	149						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8		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;0.017)		CTCTTCTTCATCTCCTAATAA	0.463																																																0													156	132	140					19																	58472845		2203	4300	6503	SO:0001583	missense	147685			BC033933	CCDS12967.1	19q13.43	2013-03-11			ENSG00000177025	ENSG00000177025			28642	protein-coding gene	gene with protein product						12477932	Standard	NM_152474		Approved	MGC41906	uc002qqv.3	Q8NEA5	OTTHUMG00000183450	ENST00000314391.3:c.446A>C	19.37:g.58472845T>G	ENSP00000321519:p.Asp149Ala			Missense_Mutation	SNP	ENST00000314391.3	37	CCDS12967.1	.	.	.	.	.	.	.	.	.	.	T	14.66	2.600617	0.46423	.	.	ENSG00000177025	ENST00000314391	T	0.58060	0.36	4.14	3.13	0.36017	.	0.617223	0.14394	N	0.322330	T	0.51991	0.1707	N	0.24115	0.695	0.09310	N	1	D	0.71674	0.998	D	0.63703	0.917	T	0.33343	-0.9872	10	0.62326	D	0.03	-35.2486	6.2222	0.20687	0.0:0.1121:0.0:0.8879	.	149	Q8NEA5	CS018_HUMAN	A	149	ENSP00000321519:D149A	ENSP00000321519:D149A	D	-	2	0	C19orf18	63164657	0.002000	0.14202	0.012000	0.15200	0.002000	0.02628	0.138000	0.16016	0.940000	0.37473	0.379000	0.24179	GAT		0.463	C19orf18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466704.1	NM_152474		G	58472845	T	G	58472845	3	3	750	1	0	0	0	0	1	0	0	0	1912	1435	50	5	209	5	C19orf18	19	58472845	Missense_Mutation	SNP	T	TCGA-KO-8409-01A-11D-2310-10	152683	58472845	656138	94	44180											
SIGLEC1	6614	broad.mit.edu	37	20	3677991	3677992	+	Splice_Site	INS	-	-	G			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr20:3677991_3677992insG	ENST00000344754.4	-	9	2122		c.e9-2		SIGLEC1_ENST00000202578.4_Splice_Site	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin						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						GGACAGTGGCTGGAGAGCAGGC	0.658																																																0																																										SO:0001630	splice_region_variant	6614			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.2123-2->C	20.37:g.3677993_3677993dupG			Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Splice_Site	INS	ENST00000344754.4	37	CCDS13060.1																																																																																				0.658	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068	Intron	G	3677992	-	G	3677991	8	5	750	1	0	1	1	0	0	0	1	0	14311	1594	55	0	3060	0	SIGLEC1	20	3677991	Splice_Site	INS	-	TCGA-KO-8409-01A-11D-2310-10		3677991	59347529	95	44181											
POTEH	23784	broad.mit.edu	37	22	16266972	16266973	+	Frame_Shift_Ins	INS	-	-	T			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr22:16266972_16266973insT	ENST00000343518.6	-	9	1527_1528	c.1476_1477insA	c.(1474-1479)cctgaafs	p.E493fs		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	493										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TGCTGGCTTTCAGGTGTTCTGC	0.431																																																0																																										SO:0001589	frameshift_variant	23784			AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	133	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 7"	608913	"actin, beta-like 1", "ANKRD26-like family C, member 3"	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.1476_1477insA	22.37:g.16266972_16266973insT	ENSP00000340610:p.Glu493fs		A2CEK4|A6NCI1|A9Z1W0	Frame_Shift_Ins	INS	ENST00000343518.6	37	CCDS46658.1																																																																																				0.431	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213		T	16266973	-	T	16266972	7	5	750	1	0	1	1	0	0	0	0	0	12269	835	29	0	168	0	POTEH	22	16266972	Frame_Shift_Ins	INS	-	TCGA-KO-8409-01A-11D-2310-10		16266972	35037594	96	44182											
RIMBP3	85376	broad.mit.edu	37	22	20458634	20458635	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr22:20458634_20458635insC	ENST00000426804.1	-	1	3151_3152	c.2667_2668insG	c.(2665-2670)gtgcccfs	p.P890fs	RN7SKP131_ENST00000363006.1_RNA	NM_015672.1	NP_056487.1	Q9UFD9	RIM3A_HUMAN	RIMS binding protein 3	890	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.									breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			AAGTTGGAGGGCACCAGCCCCC	0.609																																																0																																										SO:0001589	frameshift_variant	85376			AB051453	CCDS46665.1	22q11.21	2014-05-06			ENSG00000196622	ENSG00000275793			29344	protein-coding gene	gene with protein product		612699				11258795, 17855024	Standard	NM_015672		Approved	KIAA1666, RIMBP3.1, RIMBP3A	uc002zsd.4	Q9UFD9	OTTHUMG00000188355	ENST00000426804.1:c.2668dupG	22.37:g.20458635_20458635dupC	ENSP00000391564:p.Pro890fs		Q8IYP7|Q9BY94|Q9UFQ5	Frame_Shift_Ins	INS	ENST00000426804.1	37	CCDS46665.1																																																																																				0.609	RIMBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318945.2	NM_015672		C	20458635	-	C	20458634	7	5	750	1	0	1	1	0	0	0	0	0	13370	1203	42	0	2255	0	RIMBP3	22	20458634	Frame_Shift_Ins	INS	-	TCGA-KO-8409-01A-11D-2310-10	4191662	20458634	30845932	97	44183											
VCX3B	425054	mdanderson.org	37	X	8434221	8434221	+	Missense_Mutation	SNP	G	G	C			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chrX:8434221G>C	ENST00000381032.1	+	3	845	c.538G>C	c.(538-540)Gtg>Ctg	p.V180L	VCX3B_ENST00000440654.2_Missense_Mutation_p.V130L|VCX3B_ENST00000453306.1_Intron|VCX3B_ENST00000381029.4_Missense_Mutation_p.V148L|VCX3B_ENST00000444481.1_Missense_Mutation_p.V150L	NM_001001888.3	NP_001001888.3	Q9H321	VCX3B_HUMAN	variable charge, X-linked 3B	180	14 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.					nucleolus (GO:0005730)|nucleus (GO:0005634)		p.V150L(1)		NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						GGAGAGCCAGGTGGAGGAACC	0.587																																																1	Substitution - Missense(1)	skin(1)											8	22	18					X																	8434221		1381	3321	4702	SO:0001583	missense	425054				CCDS48077.1, CCDS48077.2	Xp22.31	2009-01-14			ENSG00000205642	ENSG00000205642			31838	protein-coding gene	gene with protein product							Standard	NM_001001888		Approved	VCX-C	uc011mht.2	Q9H321	OTTHUMG00000021106	ENST00000381032.1:c.538G>C	X.37:g.8434221G>C	ENSP00000370420:p.Val180Leu		C9JS46|Q4KN12	Missense_Mutation	SNP	ENST00000381032.1	37	CCDS48077.2	.	.	.	.	.	.	.	.	.	.	N	0.012	-1.656353	0.00779	.	.	ENSG00000205642	ENST00000381032;ENST00000444481;ENST00000440654;ENST00000381029	T;T;T;T	0.18657	2.2;2.68;2.2;2.68	0.828	-1.66	0.08265	.	.	.	.	.	T	0.05960	0.0155	N	0.01109	-1.01	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.04013	0.001;0.001	T	0.39921	-0.9590	9	0.25106	T	0.35	.	7.6676	0.28441	0.0:0.491:0.509:0.0	.	150;130	Q9H321;E7ERZ8	VCX3B_HUMAN;.	L	180;150;130;148	ENSP00000370420:V180L;ENSP00000414780:V150L;ENSP00000410372:V130L;ENSP00000370417:V148L	ENSP00000370417:V148L	V	+	1	0	VCX3B	8394221	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.042000	0.03539	-0.757000	0.04697	-1.693000	0.00726	GTG		0.587	VCX3B-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055691.1			C	8434221	G	C	8434221	3	2	750	1	0	0	0	0	1	0	0	0	17150	1261	44	4	458	4	VCX3B	23	8434221	Missense_Mutation	SNP	G	TCGA-KO-8409-01A-11D-2310-10		8434221	146836339	98	44184											
SATL1	340562	broad.mit.edu	37	X	84363631	84363632	+	5'UTR	INS	-	-	T			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chrX:84363631_84363632insT	ENST00000395409.3	-	0	342_343				SATL1_ENST00000509231.1_Frame_Shift_Ins_p.S115fs|SATL1_ENST00000332921.5_5'UTR			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1								N-acetyltransferase activity (GO:0008080)			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						GCCTGATTGGCTTGGGCCTGGT	0.545											OREG0019887	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0																																										SO:0001623	5_prime_UTR_variant	340562			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.-219->A	X.37:g.84363633_84363633dupT		1228	A0AVK7|E9PB72|Q5H8V9	Frame_Shift_Ins	INS	ENST00000395409.3	37																																																																																					0.545	SATL1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_291339		T	84363632	-	T	84363631	6	5	750	0	1	1	1	0	0	0	0	0	13861	797	28	0		0	SATL1	23	84363631	5'UTR	INS	-	TCGA-KO-8409-01A-11D-2310-10	75929410	84363631	70906929	99	44185											
RGAG1	57529	broad.mit.edu	37	X	109698465	109698465	+	Silent	SNP	A	A	G			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chrX:109698465A>G	ENST00000465301.2	+	4	4329	c.4083A>G	c.(4081-4083)aaA>aaG	p.K1361K	RGAG1_ENST00000540313.1_Silent_p.K1361K	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	1361										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						ACTACCTGAAAGAGCATGGAG	0.483																																																0													225	195	205					X																	109698465		2203	4300	6503	SO:0001819	synonymous_variant	57529			AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.4083A>G	X.37:g.109698465A>G			Q9P2M8	Silent	SNP	ENST00000465301.2	37	CCDS14552.1																																																																																				0.483	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		G	109698465	A	G	109698465	2	3	750	1	0	0	0	0	0	0	0	1	13280	69	3	3		3	RGAG1	23	109698465	Silent	SNP	A	TCGA-KO-8409-01A-11D-2310-10	25334834	109698465	45572095	100	44186											
PRAMEF1	65121	mdanderson.org	37	1	12855822	12855822	+	Missense_Mutation	SNP	G	G	A	rs148127907	byFrequency	TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr1:12855822G>A	ENST00000332296.7	+	4	1205	c.1102G>A	c.(1102-1104)Gcc>Acc	p.A368T	PRAMEF1_ENST00000400814.3_Missense_Mutation_p.A123T	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	368					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)		CCAACTCAGTGCCATCCTGCC	0.557													.|||	52	0.0103834	0.0	0.0029	5008	,	,		16217	0.0208		0.007	False		,,,				2504	0.0225															0													56	59	58					1																	12855822		2203	4296	6499	SO:0001583	missense	65121			AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"-"	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.1102G>A	1.37:g.12855822G>A	ENSP00000332134:p.Ala368Thr		Q9UQP2	Missense_Mutation	SNP	ENST00000332296.7	37	CCDS148.1	.	.	.	.	.	.	.	.	.	.	.	10.57	1.386490	0.25031	.	.	ENSG00000116721	ENST00000332296;ENST00000400814	T;T	0.10668	2.85;2.85	1.56	1.56	0.23342	.	0.608476	0.16131	N	0.228175	T	0.08626	0.0214	L	0.35644	1.08	0.09310	N	1	B	0.22003	0.063	B	0.24848	0.056	T	0.24154	-1.0168	10	0.51188	T	0.08	.	6.5617	0.22489	0.0:0.0:1.0:0.0	.	368	O95521	PRAM1_HUMAN	T	368;123	ENSP00000332134:A368T;ENSP00000383616:A123T	ENSP00000332134:A368T	A	+	1	0	PRAMEF1	12778409	0.001000	0.12720	0.070000	0.20053	0.002000	0.02628	0.503000	0.22610	1.170000	0.42753	0.205000	0.17691	GCC		0.557	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		A	12855822	G	A	12855822	3	1	751	1	0	0	0	0	1	0	0	0	12430	1319	46	2	1112	2	PRAMEF1	1	12855822	Missense_Mutation	SNP	G	TCGA-KO-8410-01A-11D-2310-10		12855822	236394799	1	44187											
HNRNPCL1	343069	mdanderson.org	37	1	12907313	12907313	+	Missense_Mutation	SNP	G	G	A	rs199978302	byFrequency	TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr1:12907313G>A	ENST00000317869.6	-	2	1055	c.830C>T	c.(829-831)gCt>gTt	p.A277V		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	277						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						TCCTTCCTCAGCCTCTTTTTC	0.483																																																0													136	156	149					1																	12907313		2203	4300	6503	SO:0001583	missense	0			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.830C>T	1.37:g.12907313G>A	ENSP00000365370:p.Ala277Val		B2RP44	Missense_Mutation	SNP	ENST00000317869.6	37	CCDS30591.1	.	.	.	.	.	.	.	.	.	.	.	9.441	1.088093	0.20390	.	.	ENSG00000179172	ENST00000317869	T	0.10192	2.9	0.926	0.926	0.19430	.	0.684130	0.13415	U	0.389546	T	0.18173	0.0436	L	0.43152	1.355	0.23440	N	0.997671	D	0.76494	0.999	D	0.75484	0.986	T	0.20371	-1.0277	10	0.14252	T	0.57	.	7.7533	0.28909	0.0:0.0:1.0:0.0	.	277	O60812	HNRCL_HUMAN	V	277	ENSP00000365370:A277V	ENSP00000365370:A277V	A	-	2	0	HNRNPCL1	12829900	0.994000	0.37717	0.938000	0.37757	0.160000	0.22226	1.263000	0.33004	0.814000	0.34374	0.173000	0.16961	GCT		0.483	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631		A	12907313	G	A	12907313	3	1	751	1	0	0	0	0	1	0	0	0	7265	971	34	2	53	2	HNRNPCL1	1	12907313	Missense_Mutation	SNP	G	TCGA-KO-8410-01A-11D-2310-10	51491	12907313	236343308	2	44188											
LOC440563	0	mdanderson.org	37	1	13183631	13183631	+	IGR	SNP	A	A	T	rs80009603	byFrequency	TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr1:13183631A>T								RP13-221M14.3 (19163 upstream) : PRAMEF26 (32724 downstream)																							CAGGTTAATAACTGCAACCTG	0.502													.|||	165	0.0329473	0.0053	0.0173	5008	,	,		17952	0.0903		0.0348	False		,,,				2504	0.0204															0													59	45	49					1																	13183631		691	1587	2278	SO:0001628	intergenic_variant	0																															1.37:g.13183631A>T				Missense_Mutation	SNP		37																																																																																				0	0.502									T	13183631	A	T	13183631	1	4	751	0	1	0	0	0	0	0	0	0	8881	43	2	5		5	LOC440563	1	13183631	IGR	SNP	A	TCGA-KO-8410-01A-11D-2310-10	276318	13183631	236066990	3	44189											
PRAMEF18	391003	mdanderson.org	37	1	13474980	13474980	+	Silent	SNP	G	G	A			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr1:13474980G>A	ENST00000376126.2	-	3	1148	c.1149C>T	c.(1147-1149)tgC>tgT	p.C383C		NM_001099850.1	NP_001093320.1	Q5VWM3	PRA18_HUMAN	PRAME family member 18	383					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					lung(2)|ovary(1)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGCCGTGAAAGCAGAAAGTGG	0.572																																																0													42	47	45					1																	13474980		2164	4248	6412	SO:0001819	synonymous_variant	391003					1p36.21	2013-01-17			ENSG00000204491			"-"	30693	protein-coding gene	gene with protein product							Standard			Approved	OTTHUMG00000002932		Q5VWM3	OTTHUMG00000002932	ENST00000376126.2:c.1149C>T	1.37:g.13474980G>A				Silent	SNP	ENST00000376126.2	37	CCDS41258.1																																																																																				0.572	PRAMEF18-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008177.2	NM_001099850		A	13474980	G	A	13474980	2	1	751	1	0	0	0	0	0	0	0	1	12438	963	34	2		2	PRAMEF18	1	13474980	Silent	SNP	G	TCGA-KO-8410-01A-11D-2310-10	291349	13474980	235775641	4	44190											
AMPD1	270	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	115220103	115220103	+	Nonsense_Mutation	SNP	G	G	C			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr1:115220103G>C	ENST00000520113.2	-	10	1371	c.1356C>G	c.(1354-1356)taC>taG	p.Y452*	AMPD1_ENST00000353928.6_Nonsense_Mutation_p.Y419*|AMPD1_ENST00000369538.3_Nonsense_Mutation_p.Y448*			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	452					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)	CAGCATGCTGGTACTTGGCCT	0.582																																																0													85	72	76					1																	115220103		2203	4300	6503	SO:0001587	stop_gained	270			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.1356C>G	1.37:g.115220103G>C	ENSP00000430075:p.Tyr452*		A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Nonsense_Mutation	SNP	ENST00000520113.2	37	CCDS876.2	.	.	.	.	.	.	.	.	.	.	G	37	6.308656	0.97462	.	.	ENSG00000116748	ENST00000520113;ENST00000369538;ENST00000353928	.	.	.	5.85	2.99	0.34606	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.064	10.6982	0.45911	0.2078:0.0:0.7922:0.0	.	.	.	.	X	452;448;419	.	ENSP00000316520:Y419X	Y	-	3	2	AMPD1	115021626	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.502000	0.53332	0.384000	0.24942	-0.254000	0.11334	TAC		0.582	AMPD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032860.4			C	115220103	G	C	115220103	4	2	751	1	0	0	0	0	0	1	0	0	585	1256	44	4	1014	4	AMPD1	1	115220103	Nonsense_Mutation	SNP	G	TCGA-KO-8410-01A-11D-2310-10	101745123	115220103	134030518	5	44191											
THADA	63892	broad.mit.edu;bcgsc.ca	37	2	43755040	43755040	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr2:43755040T>C	ENST00000405006.4	-	22	3703	c.3352A>G	c.(3352-3354)Aaa>Gaa	p.K1118E	THADA_ENST00000415080.2_Missense_Mutation_p.K828E|THADA_ENST00000330266.7_Missense_Mutation_p.K828E|THADA_ENST00000405975.2_Missense_Mutation_p.K1118E	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1118										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TCAGTGAGTTTCACAAAACCA	0.313																																																0													208	201	203					2																	43755040		1838	4089	5927	SO:0001583	missense	63892			AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.3352A>G	2.37:g.43755040T>C	ENSP00000385995:p.Lys1118Glu		A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	ENST00000405006.4	37	CCDS46268.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.83|13.83	2.353690|2.353690	0.41700|0.41700	.|.	.|.	ENSG00000115970|ENSG00000115970	ENST00000330266;ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006|ENST00000407351	T;T;T;T|.	0.42131|.	0.98;0.98;0.98;0.98|.	5.68|5.68	4.49|4.49	0.54785|0.54785	Domain of unknown function DUF2428, death-receptor-like (1);Armadillo-type fold (1);|.	0.220796|.	0.41605|.	D|.	0.000860|.	T|.	0.47414|.	0.1444|.	L|L	0.45137|0.45137	1.4|1.4	0.31061|0.31061	N|N	0.714094|0.714094	D;D;P;D|.	0.67145|.	0.98;0.996;0.776;0.984|.	P;P;P;P|.	0.57620|.	0.758;0.824;0.536;0.802|.	T|.	0.50792|.	-0.8786|.	10|.	0.72032|.	D|.	0.01|.	.|.	12.0505|12.0505	0.53503|0.53503	0.0:0.0:0.2709:0.7291|0.0:0.0:0.2709:0.7291	.|.	828;1119;828;1118|.	Q6YHU6-2;B6ZDQ0;C9JJB1;Q6YHU6|.	.;.;.;THADA_HUMAN|.	E|W	828;1118;1119;828;1118|431	ENSP00000331105:K828E;ENSP00000386088:K1118E;ENSP00000416048:K828E;ENSP00000385995:K1118E|.	ENSP00000331105:K828E|.	K|X	-|-	1|3	0|0	THADA|THADA	43608544|43608544	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	3.935000|3.935000	0.56560|0.56560	0.945000|0.945000	0.37605|0.37605	0.459000|0.459000	0.35465|0.35465	AAA|TGA		0.313	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065		C	43755040	T	C	43755040	3	2	751	1	0	0	0	0	1	0	0	0	15845	1792	62	3	2577	3	THADA	2	43755040	Missense_Mutation	SNP	T	TCGA-KO-8410-01A-11D-2310-10		43755040	199444333	6	44192											
ADD2	119	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	2	70910791	70910791	+	Missense_Mutation	SNP	C	C	A			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr2:70910791C>A	ENST00000264436.4	-	10	1501	c.1057G>T	c.(1057-1059)Ggg>Tgg	p.G353W	ADD2_ENST00000430656.1_Missense_Mutation_p.G369W|ADD2_ENST00000355733.3_Missense_Mutation_p.G353W|ADD2_ENST00000407644.2_Missense_Mutation_p.G353W|ADD2_ENST00000413157.2_Missense_Mutation_p.G353W	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	353					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TGCATAGGCCCAAAGGTGCTC	0.632																																																0													47	42	44					2																	70910791		2203	4300	6503	SO:0001583	missense	119			X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.1057G>T	2.37:g.70910791C>A	ENSP00000264436:p.Gly353Trp		A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Missense_Mutation	SNP	ENST00000264436.4	37	CCDS1906.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.608811	0.87258	.	.	ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000355733;ENST00000356565;ENST00000413157;ENST00000430656	T;T;T;T;T	0.09911	3.21;3.21;3.07;2.94;2.93	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.32763	0.0840	M	0.73217	2.22	0.80722	D	1	D;D;D;D	0.89917	0.999;0.998;0.998;1.0	D;D;D;D	0.97110	0.981;0.965;0.958;1.0	T	0.03148	-1.1067	10	0.87932	D	0	-31.9107	15.5561	0.76196	0.0:1.0:0.0:0.0	.	369;353;353;353	B4DM17;P35612-4;P35612;P35612-3	.;.;ADDB_HUMAN;.	W	353;353;353;353;353;369	ENSP00000264436:G353W;ENSP00000384677:G353W;ENSP00000347972:G353W;ENSP00000388072:G353W;ENSP00000398112:G369W	ENSP00000264436:G353W	G	-	1	0	ADD2	70764299	1.000000	0.71417	0.924000	0.36721	0.977000	0.68977	7.462000	0.80851	2.541000	0.85698	0.655000	0.94253	GGG		0.632	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4	NM_001617		A	70910791	C	A	70910791	3	1	751	1	0	0	0	0	1	0	0	0	305	594	21	4	1328	4	ADD2	2	70910791	Missense_Mutation	SNP	C	TCGA-KO-8410-01A-11D-2310-10	27155751	70910791	172288582	7	44193											
SLC4A10	57282	ucsc.edu;mdanderson.org;bcgsc.ca	37	2	162757484	162757484	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr2:162757484G>A	ENST00000446997.1	+	12	1498	c.1405G>A	c.(1405-1407)Gga>Aga	p.G469R	SLC4A10_ENST00000535165.1_3'UTR|SLC4A10_ENST00000421911.1_Missense_Mutation_p.G469R|SLC4A10_ENST00000375514.5_Missense_Mutation_p.G450R|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000415876.2_Missense_Mutation_p.G439R|SLC4A10_ENST00000272716.5_Missense_Mutation_p.G439R	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	469					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	AGAGCCCCACGGAGGACATAG	0.458																																																0													46	52	50					2																	162757484		1953	4133	6086	SO:0001583	missense	57282				CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"Solute carriers"	13811	protein-coding gene	gene with protein product		605556	"solute carrier family 4, sodium bicarbonate transporter-like, member 10"			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.1405G>A	2.37:g.162757484G>A	ENSP00000393066:p.Gly469Arg		B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Missense_Mutation	SNP	ENST00000446997.1	37	CCDS54411.1	.	.	.	.	.	.	.	.	.	.	G	12.51	1.960298	0.34565	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000421911;ENST00000415711	T;T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.31;-1.31	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.85553	0.5723	M	0.61703	1.905	0.58432	D	0.999999	D;B;D;P	0.53619	0.961;0.1;0.961;0.773	P;B;P;B	0.57548	0.823;0.023;0.823;0.14	T	0.81123	-0.1076	10	0.14252	T	0.57	.	19.2477	0.93909	0.0:0.0:1.0:0.0	.	450;469;439;469	F8W675;E7EW28;Q6U841-2;Q6U841	.;.;.;S4A10_HUMAN	R	450;439;439;438;469;469;468	ENSP00000364664:G450R;ENSP00000395797:G439R;ENSP00000272716:G439R;ENSP00000393066:G469R;ENSP00000404486:G469R	ENSP00000272716:G439R	G	+	1	0	SLC4A10	162465730	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	7.787000	0.85759	2.628000	0.89032	0.655000	0.94253	GGA		0.458	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058		A	162757484	G	A	162757484	3	1	751	1	0	0	0	0	1	0	0	0	14657	1117	39	1	1536	1	SLC4A10	2	162757484	Missense_Mutation	SNP	G	TCGA-KO-8410-01A-11D-2310-10	91846693	162757484	80441889	8	44194											
UGT1A9	54600	mdanderson.org	37	2	234580967	234580967	+	Silent	SNP	A	A	G	rs28946876	byFrequency	TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr2:234580967A>G	ENST00000354728.4	+	1	469	c.387A>G	c.(385-387)aaA>aaG	p.K129K	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000609637.1_Silent_p.K129K|UGT1A10_ENST00000373445.1_Intron			O60656	UD19_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A9	129					cellular glucuronidation (GO:0052695)|cellular lipid metabolic process (GO:0044255)|drug metabolic process (GO:0017144)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|xenobiotic glucuronidation (GO:0052697)|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)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)			breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	Acetaminophen(DB00316)|Buprenorphine(DB00921)|Canagliflozin(DB08907)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Entacapone(DB00494)|Etodolac(DB00749)|Ezogabine(DB04953)|Flurbiprofen(DB00712)|Haloperidol(DB00502)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ketobemidone(DB06738)|Lumiracoxib(DB01283)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Nateglinide(DB00731)|Niflumic Acid(DB04552)|Oxazepam(DB00842)|Propofol(DB00818)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sulfamethoxazole(DB01015)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zileuton(DB00744)	GTTTGTTTAAAGACAAAAAAT	0.313																																																0													99	101	101					2																	234580967		2203	4300	6503	SO:0001819	synonymous_variant	54600			AF056188	CCDS2505.1	2q37	2010-03-05	2005-07-20		ENSG00000241119	ENSG00000241119		"UDP glucuronosyltransferases"	12541	other	complex locus constituent		606434	"UDP glycosyltransferase 1 family, polypeptide A9"			9295054, 1910331	Standard	NM_021027		Approved	HLUGP4, LUGP4, UGT1AI		O60656	OTTHUMG00000059124	ENST00000354728.4:c.387A>G	2.37:g.234580967A>G			B8K285|P36509|Q9HAX0	Silent	SNP	ENST00000354728.4	37	CCDS2505.1																																																																																				0.313	UGT1A9-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130995.1	NM_021027		G	234580967	A	G	234580967	2	3	751	1	0	0	0	0	0	0	0	1	16957	69	3	3		3	UGT1A9	2	234580967	Silent	SNP	A	TCGA-KO-8410-01A-11D-2310-10	71823483	234580967	8618406	9	44195			1	115		3	3	68	N	C_AA_A	1.066728e-08
UGT1A9	54600	mdanderson.org	37	2	234581002	234581002	+	Missense_Mutation	SNP	C	C	G	rs76167146	byFrequency	TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr2:234581002C>G	ENST00000354728.4	+	1	504	c.422C>G	c.(421-423)tCt>tGt	p.S141C	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000609637.1_Missense_Mutation_p.S141C|UGT1A10_ENST00000373445.1_Intron			O60656	UD19_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A9	141					cellular glucuronidation (GO:0052695)|cellular lipid metabolic process (GO:0044255)|drug metabolic process (GO:0017144)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|xenobiotic glucuronidation (GO:0052697)|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)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)			breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	Acetaminophen(DB00316)|Buprenorphine(DB00921)|Canagliflozin(DB08907)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Entacapone(DB00494)|Etodolac(DB00749)|Ezogabine(DB04953)|Flurbiprofen(DB00712)|Haloperidol(DB00502)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ketobemidone(DB06738)|Lumiracoxib(DB01283)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Nateglinide(DB00731)|Niflumic Acid(DB04552)|Oxazepam(DB00842)|Propofol(DB00818)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sulfamethoxazole(DB01015)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zileuton(DB00744)	AAGGAGAGTTCTTTTGATGCA	0.358																																																0													125	125	125					2																	234581002		2203	4300	6503	SO:0001583	missense	54600			AF056188	CCDS2505.1	2q37	2010-03-05	2005-07-20		ENSG00000241119	ENSG00000241119		"UDP glucuronosyltransferases"	12541	other	complex locus constituent		606434	"UDP glycosyltransferase 1 family, polypeptide A9"			9295054, 1910331	Standard	NM_021027		Approved	HLUGP4, LUGP4, UGT1AI		O60656	OTTHUMG00000059124	ENST00000354728.4:c.422C>G	2.37:g.234581002C>G	ENSP00000346768:p.Ser141Cys		B8K285|P36509|Q9HAX0	Missense_Mutation	SNP	ENST00000354728.4	37	CCDS2505.1	.	.	.	.	.	.	.	.	.	.	C	5.531	0.282927	0.10458	.	.	ENSG00000241119	ENST00000354728	T	0.62639	0.01	3.41	3.41	0.39046	.	.	.	.	.	T	0.61375	0.2342	M	0.81942	2.565	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.12837	0.008;0.008	T	0.58036	-0.7707	9	0.66056	D	0.02	.	6.3779	0.21517	0.334:0.5079:0.1581:0.0	.	141;141	Q5DSZ5;O60656	.;UD19_HUMAN	C	141	ENSP00000346768:S141C	ENSP00000346768:S141C	S	+	2	0	UGT1A9	234245741	0.000000	0.05858	0.866000	0.34008	0.471000	0.32888	0.356000	0.20181	1.907000	0.55213	0.440000	0.28878	TCT		0.358	UGT1A9-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130995.1	NM_021027		G	234581002	C	G	234581002	3	3	751	1	0	0	0	0	1	0	0	0	16957	913	32	4	424	4	UGT1A9	2	234581002	Missense_Mutation	SNP	C	TCGA-KO-8410-01A-11D-2310-10	35	234581002	8618371	10	44196			1	115		3	3	68	N	C_AA_A	1.066728e-08
UGT1A9	54600	mdanderson.org	37	2	234581034	234581035	+	Missense_Mutation	DNP	AA	AA	GC			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	AA	AA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr2:234581034_234581035AA>GC	ENST00000354728.4	+	1	536_537	c.454_455AA>GC	c.(454-456)AAc>GCc	p.N152A	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000609637.1_Missense_Mutation_p.N152A|UGT1A10_ENST00000373445.1_Intron			O60656	UD19_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A9	152					cellular glucuronidation (GO:0052695)|cellular lipid metabolic process (GO:0044255)|drug metabolic process (GO:0017144)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|xenobiotic glucuronidation (GO:0052697)|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)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)			breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	Acetaminophen(DB00316)|Buprenorphine(DB00921)|Canagliflozin(DB08907)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Entacapone(DB00494)|Etodolac(DB00749)|Ezogabine(DB04953)|Flurbiprofen(DB00712)|Haloperidol(DB00502)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ketobemidone(DB06738)|Lumiracoxib(DB01283)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Nateglinide(DB00731)|Niflumic Acid(DB04552)|Oxazepam(DB00842)|Propofol(DB00818)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sulfamethoxazole(DB01015)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zileuton(DB00744)	TCCTTTTGATAACTGTGGCTTA	0.396																																																0																																										SO:0001583	missense	54600			AF056188	CCDS2505.1	2q37	2010-03-05	2005-07-20		ENSG00000241119	ENSG00000241119		"UDP glucuronosyltransferases"	12541	other	complex locus constituent		606434	"UDP glycosyltransferase 1 family, polypeptide A9"			9295054, 1910331	Standard	NM_021027		Approved	HLUGP4, LUGP4, UGT1AI		O60656	OTTHUMG00000059124	Exception_encountered	2.37:g.234581034_234581035delinsGC	ENSP00000346768:p.Asn152Ala		B8K285|P36509|Q9HAX0	Missense_Mutation	DNP	ENST00000354728.4	37	CCDS2505.1																																																																																				0.396	UGT1A9-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130995.1	NM_021027		GC	234581035	AA	GC	234581034	3	3	751	1	0	0	0	0	1	0	0	0	16957	362	13	3	456	3	UGT1A9	2	234581034	Missense_Mutation	DNP	AA	TCGA-KO-8410-01A-11D-2310-10	32	234581034	8618339	11	44197			1	115		3	3	68	N	C_AA_A	1.066728e-08
PASK	23178	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	242076636	242076636	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr2:242076636G>A	ENST00000405260.1	-	7	1618	c.920C>T	c.(919-921)aCc>aTc	p.T307I	PASK_ENST00000544142.1_Missense_Mutation_p.T121I|PASK_ENST00000358649.4_Missense_Mutation_p.T307I|PASK_ENST00000403638.3_Missense_Mutation_p.T307I|PASK_ENST00000234040.4_Missense_Mutation_p.T307I|PASK_ENST00000539818.1_Missense_Mutation_p.T91I	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	307					negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|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;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		AGGGAAGGTGGTACCGTCCCT	0.567																																																0													79	77	78					2																	242076636		2203	4300	6503	SO:0001583	missense	23178			U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.920C>T	2.37:g.242076636G>A	ENSP00000384016:p.Thr307Ile		G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Missense_Mutation	SNP	ENST00000405260.1	37	CCDS2545.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.54|19.54	3.846814|3.846814	0.71603|0.71603	.|.	.|.	ENSG00000115687|ENSG00000115687	ENST00000433589|ENST00000234040;ENST00000544142;ENST00000405260;ENST00000358649;ENST00000539818;ENST00000403638;ENST00000415234	.|T;T;T;T;T;T;T	.|0.70164	.|0.88;-0.46;0.88;0.88;0.88;0.88;-0.46	5.26|5.26	3.36|3.36	0.38483|0.38483	.|.	.|0.255608	.|0.27072	.|N	.|0.021072	T|T	0.76090|0.76090	0.3939|0.3939	M|M	0.70595|0.70595	2.14|2.14	0.23198|0.23198	N|N	0.998137|0.998137	.|D;D;D;P;D	.|0.63046	.|0.961;0.992;0.977;0.921;0.961	.|P;P;P;B;P	.|0.62813	.|0.708;0.907;0.847;0.415;0.708	T|T	0.65512|0.65512	-0.6150|-0.6150	5|10	.|0.56958	.|D	.|0.05	.|.	10.6401|10.6401	0.45588|0.45588	0.0:0.1401:0.7161:0.1438|0.0:0.1401:0.7161:0.1438	.|.	.|272;121;307;307;307	.|B7Z7R6;F5GYW7;Q96RG2-2;G5E9F1;Q96RG2	.|.;.;.;.;PASK_HUMAN	S|I	122|307;121;307;307;91;307;91	.|ENSP00000234040:T307I;ENSP00000441374:T121I;ENSP00000384016:T307I;ENSP00000351475:T307I;ENSP00000443083:T91I;ENSP00000384438:T307I;ENSP00000400734:T91I	.|ENSP00000234040:T307I	P|T	-|-	1|2	0|0	PASK|PASK	241725309|241725309	0.998000|0.998000	0.40836|0.40836	0.972000|0.972000	0.41901|0.41901	0.869000|0.869000	0.49853|0.49853	1.015000|1.015000	0.29963|0.29963	2.453000|2.453000	0.82957|0.82957	0.467000|0.467000	0.42956|0.42956	CCA|ACC		0.567	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		A	242076636	G	A	242076636	3	1	751	1	0	0	0	0	1	0	0	0	11474	1261	44	2	3099	2	PASK	2	242076636	Missense_Mutation	SNP	G	TCGA-KO-8410-01A-11D-2310-10	7495602	242076636	1122737	12	44198											
GCET2	257144	broad.mit.edu	37	3	111842562	111842562	+	Missense_Mutation	SNP	C	C	A	rs570762149	byFrequency	TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr3:111842562C>A	ENST00000308910.4	-	6	461	c.277G>T	c.(277-279)Gtt>Ttt	p.V93F	C3orf52_ENST00000467942.2_Intron|GCSAM_ENST00000484193.1_Missense_Mutation_p.V95F	NM_001190259.1|NM_001190260.1|NM_152785.4	NP_001177188.1|NP_001177189.1|NP_689998.1	Q8N6F7	GCSAM_HUMAN	germinal center-associated, signaling and motility	93					negative regulation of lymphocyte migration (GO:2000402)|regulation of B cell receptor signaling pathway (GO:0050855)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|myosin II binding (GO:0045159)|protein kinase binding (GO:0019901)										GTACAGAGAACCCGATGATTG	0.483																																																0													140	118	126					3																	111842562		2203	4300	6503	SO:0001583	missense	257144			BC030506	CCDS2964.1, CCDS54621.1, CCDS54622.1	3q13.13	2012-09-03	2012-08-23	2012-08-23	ENSG00000174500	ENSG00000174500			20253	protein-coding gene	gene with protein product	"human germinal center-associated lymphoma"	607792	"germinal center expressed transcript 2"	GCET2			Standard	NM_152785		Approved	MGC40441, HGAL	uc021xcl.1	Q8N6F7	OTTHUMG00000159231	ENST00000308910.4:c.277G>T	3.37:g.111842562C>A	ENSP00000309487:p.Val93Phe		C9JD17|C9JUG6	Missense_Mutation	SNP	ENST00000308910.4	37	CCDS2964.1	.	.	.	.	.	.	.	.	.	.	C	14.23	2.474764	0.43942	.	.	ENSG00000174500	ENST00000308910;ENST00000484193;ENST00000460387;ENST00000488580;ENST00000487901	.	.	.	4.2	2.41	0.29592	.	0.491893	0.17030	N	0.189773	T	0.51244	0.1663	L	0.56769	1.78	0.09310	N	1	D	0.63880	0.993	P	0.61132	0.884	T	0.34378	-0.9831	9	0.72032	D	0.01	-2.5888	6.4966	0.22146	0.0:0.7837:0.0:0.2163	.	93	Q8N6F7	GCET2_HUMAN	F	93;95;78;76;76	.	ENSP00000309487:V93F	V	-	1	0	GCET2	113325252	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.548000	0.23314	0.725000	0.32318	0.655000	0.94253	GTT		0.483	GCSAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353967.2	NM_152785		A	111842562	C	A	111842562	3	1	751	1	0	0	0	0	1	0	0	0	6290	507	18	4	263	4	GCET2	3	111842562	Missense_Mutation	SNP	C	TCGA-KO-8410-01A-11D-2310-10		111842562	86179868	13	44199											
ATP6V1A	523	broad.mit.edu	37	3	113522467	113522467	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr3:113522467T>C	ENST00000273398.3	+	13	1640	c.1532T>C	c.(1531-1533)gTa>gCa	p.V511A	ATP6V1A_ENST00000461496.1_3'UTR|ATP6V1A_ENST00000538620.1_Missense_Mutation_p.V478A	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	511					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)	ACTCTGGAGGTAGCAAAACTT	0.308																																																0													115	125	122					3																	113522467		2203	4295	6498	SO:0001583	missense	523			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.1532T>C	3.37:g.113522467T>C	ENSP00000273398:p.Val511Ala		B2RBR8|B7Z1R5|D3DN75|Q53YD9|Q96DY6|Q9UHY3	Missense_Mutation	SNP	ENST00000273398.3	37	CCDS2976.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.475070	0.84640	.	.	ENSG00000114573	ENST00000545842;ENST00000273398;ENST00000538620	T;T	0.77229	-1.08;-1.08	5.54	5.54	0.83059	ATPase, F1/V1/A1 complex, alpha/beta subunit, C-terminal (2);ATPase, F1 complex beta subunit/V1 complex, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.89001	0.6591	M	0.86740	2.835	0.80722	D	1	P	0.52463	0.953	D	0.67725	0.953	D	0.90023	0.4129	10	0.51188	T	0.08	-7.4545	15.676	0.77321	0.0:0.0:0.0:1.0	.	511	P38606	VATA_HUMAN	A	228;511;478	ENSP00000273398:V511A;ENSP00000439874:V478A	ENSP00000273398:V511A	V	+	2	0	ATP6V1A	115005157	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.994000	0.88315	2.100000	0.63781	0.528000	0.53228	GTA		0.308	ATP6V1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354457.1	NM_001690		C	113522467	T	C	113522467	3	2	751	1	0	0	0	0	1	0	0	0	1177	1638	57	3	1578	3	ATP6V1A	3	113522467	Missense_Mutation	SNP	T	TCGA-KO-8410-01A-11D-2310-10	1679905	113522467	84499963	14	44200											
KIAA1407	57577	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	3	113775289	113775289	+	Missense_Mutation	SNP	A	A	C			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr3:113775289A>C	ENST00000295878.3	-	1	171	c.25T>G	c.(25-27)Tcc>Gcc	p.S9A	QTRTD1_ENST00000485050.1_5'Flank|QTRTD1_ENST00000479882.1_5'Flank|QTRTD1_ENST00000493014.1_5'Flank|KIAA1407_ENST00000545063.1_5'UTR|KIAA1407_ENST00000480588.1_5'UTR|QTRTD1_ENST00000281273.4_5'Flank	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	9										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						TTTGAGAAGGACCTTCCCTGA	0.602																																																0													121	131	128					3																	113775289		2203	4300	6503	SO:0001583	missense	57577			AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.25T>G	3.37:g.113775289A>C	ENSP00000295878:p.Ser9Ala		B4DYL1|Q9P2E0	Missense_Mutation	SNP	ENST00000295878.3	37	CCDS2977.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.810|0.810	-0.752298|-0.752298	0.03041|0.03041	.|.	.|.	ENSG00000163617|ENSG00000163617	ENST00000295878;ENST00000491000|ENST00000483766	T;T|.	0.44881|.	1.59;0.91|.	5.54|5.54	-1.63|-1.63	0.08345|0.08345	.|.	0.433787|.	0.23053|.	N|.	0.052470|.	T|T	0.19127|0.19127	0.0459|0.0459	N|N	0.19112|0.19112	0.55|0.55	0.18873|0.18873	N|N	0.999983|0.999983	B;B|.	0.09022|.	0.002;0.002|.	B;B|.	0.11329|.	0.006;0.006|.	T|T	0.26573|0.26573	-1.0099|-1.0099	10|6	0.02654|0.27082	T|T	1|0.32	.|.	3.19|3.19	0.06614|0.06614	0.302:0.4672:0.0924:0.1385|0.302:0.4672:0.0924:0.1385	.|.	9;9|.	C9JA89;Q8NCU4|.	.;K1407_HUMAN|.	A|G	9|33	ENSP00000295878:S9A;ENSP00000418099:S9A|.	ENSP00000295878:S9A|ENSP00000418991:V33G	S|V	-|-	1|2	0|0	KIAA1407|KIAA1407	115257979|115257979	0.033000|0.033000	0.19621|0.19621	0.003000|0.003000	0.11579|0.11579	0.017000|0.017000	0.09413|0.09413	0.144000|0.144000	0.16135|0.16135	-0.088000|-0.088000	0.12506|0.12506	0.533000|0.533000	0.62120|0.62120	TCC|GTC		0.602	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	NM_020817		C	113775289	A	C	113775289	3	2	751	1	0	0	0	0	1	0	0	0	8231	275	10	5	2853	5	KIAA1407	3	113775289	Missense_Mutation	SNP	A	TCGA-KO-8410-01A-11D-2310-10	252822	113775289	84247141	15	44201											
LPHN3	23284	broad.mit.edu;mdanderson.org	37	4	62598528	62598528	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr4:62598528T>C	ENST00000514591.1	+	7	780	c.451T>C	c.(451-453)Tcc>Ccc	p.S151P	LPHN3_ENST00000514996.1_Missense_Mutation_p.S151P|LPHN3_ENST00000508946.1_Missense_Mutation_p.S151P|LPHN3_ENST00000507625.1_Missense_Mutation_p.S219P|LPHN3_ENST00000509896.1_Missense_Mutation_p.S219P|LPHN3_ENST00000512091.2_Missense_Mutation_p.S151P|LPHN3_ENST00000506746.1_Missense_Mutation_p.S219P|LPHN3_ENST00000511324.1_Missense_Mutation_p.S219P|LPHN3_ENST00000514157.1_Missense_Mutation_p.S151P|LPHN3_ENST00000545650.1_Missense_Mutation_p.S151P|LPHN3_ENST00000506720.1_Missense_Mutation_p.S219P|LPHN3_ENST00000508693.1_Missense_Mutation_p.S219P|LPHN3_ENST00000506700.1_Missense_Mutation_p.S151P|LPHN3_ENST00000507164.1_Missense_Mutation_p.S219P|LPHN3_ENST00000504896.1_Missense_Mutation_p.S151P			Q9HAR2	LPHN3_HUMAN	latrophilin 3	151	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TTTGTTTGAGTCCGACCACCA	0.408																																																0													35	33	33					4																	62598528		1872	4103	5975	SO:0001583	missense	23284			AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"-", "GPCR / Class B : Orphans"	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.451T>C	4.37:g.62598528T>C	ENSP00000422533:p.Ser151Pro		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	T	15.96	2.985945	0.53934	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89270	-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49	5.77	5.77	0.91146	.	0.059262	0.64402	D	0.000001	D	0.93442	0.7908	M	0.75615	2.305	0.45899	D	0.998742	D;D;P	0.76494	0.997;0.999;0.718	D;D;B	0.83275	0.995;0.996;0.264	D	0.93591	0.6921	10	0.59425	D	0.04	.	11.2897	0.49244	0.0:0.0:0.1523:0.8477	.	151;219;151	E9PE04;E7EN28;Q9HAR2-2	.;.;.	P	151;151;219;219;151;151;151;151;151;219;219;219;151;151;151;219;219;151	ENSP00000423388:S151P;ENSP00000422533:S151P;ENSP00000423787:S219P;ENSP00000425033:S219P;ENSP00000424120:S151P;ENSP00000439831:S151P;ENSP00000421476:S219P;ENSP00000424030:S219P;ENSP00000421372:S219P;ENSP00000425201:S151P;ENSP00000423434:S151P;ENSP00000421627:S151P;ENSP00000420931:S219P;ENSP00000425884:S219P;ENSP00000424258:S151P	ENSP00000280009:S151P	S	+	1	0	LPHN3	62281123	1.000000	0.71417	0.919000	0.36401	0.900000	0.52787	4.972000	0.63756	2.206000	0.71126	0.455000	0.32223	TCC		0.408	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			C	62598528	T	C	62598528	3	2	751	1	0	0	0	0	1	0	0	0	8919	1667	58	3	469	3	LPHN3	4	62598528	Missense_Mutation	SNP	T	TCGA-KO-8410-01A-11D-2310-10		62598528	128555748	16	44202											
CXCL13	10563	broad.mit.edu	37	4	78528886	78528886	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr4:78528886A>G	ENST00000286758.4	+	3	172	c.94A>G	c.(94-96)Agg>Ggg	p.R32G		NM_006419.2	NP_006410.1	O43927	CXL13_HUMAN	chemokine (C-X-C motif) ligand 13	32					activation of Rap GTPase activity (GO:0032861)|B cell chemotaxis (GO:0035754)|B cell chemotaxis across high endothelial venule (GO:0035769)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|chronic inflammatory response (GO:0002544)|defense response to bacterium (GO:0042742)|endothelial cell chemotaxis to fibroblast growth factor (GO:0035768)|germinal center formation (GO:0002467)|immune response (GO:0006955)|lymph node development (GO:0048535)|lymphocyte chemotaxis across high endothelial venule (GO:0002518)|negative regulation of endothelial cell chemotaxis to fibroblast growth factor (GO:2000545)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of integrin activation (GO:0033625)|positive regulation of T cell chemotaxis (GO:0010820)|regulation of angiogenesis (GO:0045765)|regulation of humoral immune response (GO:0002920)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	CCR10 chemokine receptor binding (GO:0031735)|chemokine activity (GO:0008009)|CXCR3 chemokine receptor binding (GO:0048248)|CXCR5 chemokine receptor binding (GO:0031724)|fibroblast growth factor binding (GO:0017134)|heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|receptor agonist activity (GO:0048018)			large_intestine(1)|ovary(1)|skin(1)|urinary_tract(1)	4						CACAAGCTTGAGGTGTAGATG	0.373																																																0													170	157	161					4																	78528886		2203	4300	6503	SO:0001583	missense	10563			AJ002211	CCDS3582.1	4q21	2013-02-25	2008-08-29	2002-08-23	ENSG00000156234	ENSG00000156234		"Endogenous ligands"	10639	protein-coding gene	gene with protein product	"B-cell chemoattractant"	605149	"small inducible cytokine B subfamily (Cys-X-Cys motif), member 13 (B-cell chemoattractant)"	SCYB13		9463416, 9486651	Standard	NM_006419		Approved	BLC, BCA-1, BLR1L, ANGIE, ANGIE2	uc003hkr.3	O43927	OTTHUMG00000130201	ENST00000286758.4:c.94A>G	4.37:g.78528886A>G	ENSP00000286758:p.Arg32Gly			Missense_Mutation	SNP	ENST00000286758.4	37	CCDS3582.1	.	.	.	.	.	.	.	.	.	.	A	11.58	1.680365	0.29872	.	.	ENSG00000156234	ENST00000286758	T	0.15256	2.44	5.13	5.13	0.70059	Chemokine interleukin-8-like domain (2);	0.284845	0.31347	N	0.007820	T	0.19327	0.0464	L	0.55743	1.74	0.23834	N	0.996713	P	0.34997	0.479	B	0.36378	0.223	T	0.19679	-1.0298	10	0.87932	D	0	-18.6858	11.5101	0.50488	1.0:0.0:0.0:0.0	.	32	O43927	CXL13_HUMAN	G	32	ENSP00000286758:R32G	ENSP00000286758:R32G	R	+	1	2	CXCL13	78747910	0.975000	0.34042	0.344000	0.25628	0.006000	0.05464	3.864000	0.56024	2.281000	0.76405	0.528000	0.53228	AGG		0.373	CXCL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252519.1			G	78528886	A	G	78528886	3	3	751	1	0	0	0	0	1	0	0	0	4083	295	11	3	100	3	CXCL13	4	78528886	Missense_Mutation	SNP	A	TCGA-KO-8410-01A-11D-2310-10	15930358	78528886	112625390	17	44203											
FRAS1	80144	broad.mit.edu;mdanderson.org	37	4	79403634	79403634	+	Silent	SNP	C	C	T	rs536123620		TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr4:79403634C>T	ENST00000264895.6	+	58	9137	c.8697C>T	c.(8695-8697)gcC>gcT	p.A2899A		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2895					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						CACAAGGAGCCGAACTGACCA	0.443													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21295	0.0		0.0	False		,,,				2504	0.0															0													163	162	162					4																	79403634		1916	4128	6044	SO:0001819	synonymous_variant	80144			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.8697C>T	4.37:g.79403634C>T			A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	ENST00000264895.6	37	CCDS54771.1	.	.	.	.	.	.	.	.	.	.	C	10.51	1.369210	0.24771	.	.	ENSG00000138759	ENST00000512123	.	.	.	5.9	2.93	0.34026	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.0223	0.19636	0.4432:0.4265:0.0:0.1303	.	.	.	.	X	1128	.	.	R	+	1	2	FRAS1	79622658	0.094000	0.21725	1.000000	0.80357	0.997000	0.91878	-0.625000	0.05534	1.474000	0.48178	0.585000	0.79938	CGA		0.443	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				T	79403634	C	T	79403634	2	4	751	1	0	0	0	0	0	0	0	1	6044	639	23	1		1	FRAS1	4	79403634	Silent	SNP	C	TCGA-KO-8410-01A-11D-2310-10	874748	79403634	111750642	18	44204											
RAP1GDS1	5910	mdanderson.org	37	4	99341203	99341203	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr4:99341203T>C	ENST00000408927.3	+	11	1321	c.1208T>C	c.(1207-1209)gTc>gCc	p.V403A	RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.V404A|RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.V355A|RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.V312A|RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.V354A|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.V404A	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	403					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)		TCAGCTGGGGTCACAGAGGCA	0.333			T	NUP98	T-ALL																																		Dom	yes		4	4q21-q25	5910	"RAP1, GTP-GDP dissociation stimulator 1"		L	0													96	97	96					4																	99341203		1812	4083	5895	SO:0001583	missense	5910				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.1208T>C	4.37:g.99341203T>C	ENSP00000386153:p.Val403Ala		E9PH06|G5E9P9|Q499L7|Q4KMV2|Q4QQI8|Q9BUW9|Q9BUX6|Q9NYM2|Q9NZA8	Missense_Mutation	SNP	ENST00000408927.3	37	CCDS43253.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.777893	0.90195	.	.	ENSG00000138698	ENST00000380158;ENST00000264572;ENST00000408927;ENST00000453712;ENST00000408900;ENST00000339360	T;T;T;T;T;T	0.50001	0.76;1.53;0.76;0.76;0.76;0.76	6.06	6.06	0.98353	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.61751	0.2372	L	0.48362	1.52	0.80722	D	1	D;D;D;B;B;D	0.58970	0.982;0.982;0.969;0.073;0.369;0.984	P;D;D;B;B;P	0.70227	0.869;0.968;0.93;0.008;0.116;0.832	T	0.56450	-0.7977	10	0.29301	T	0.29	-9.3056	16.6154	0.84909	0.0:0.0:0.0:1.0	.	312;354;355;403;404;404	E9PH06;P52306-2;Q499L7;P52306;Q4QQI8;G5E9P9	.;.;.;GDS1_HUMAN;.;.	A	355;312;403;404;354;404	ENSP00000369503:V355A;ENSP00000264572:V312A;ENSP00000386153:V403A;ENSP00000407157:V404A;ENSP00000386223:V354A;ENSP00000340454:V404A	ENSP00000264572:V312A	V	+	2	0	RAP1GDS1	99560226	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.664000	0.83830	2.315000	0.78130	0.533000	0.62120	GTC		0.333	RAP1GDS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363273.2	NM_001100426		C	99341203	T	C	99341203	3	2	751	1	0	0	0	0	1	0	0	0	13045	1667	58	3	1253	3	RAP1GDS1	4	99341203	Missense_Mutation	SNP	T	TCGA-KO-8410-01A-11D-2310-10	19937569	99341203	91813073	19	44205											
GUCY1A3	2982	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	4	156638325	156638325	+	Silent	SNP	C	C	T	rs112384014		TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr4:156638325C>T	ENST00000296518.7	+	8	1796	c.1587C>T	c.(1585-1587)ggC>ggT	p.G529G	GUCY1A3_ENST00000506455.1_Silent_p.G529G|GUCY1A3_ENST00000455639.2_Silent_p.G529G|GUCY1A3_ENST00000393832.3_Silent_p.G271G|GUCY1A3_ENST00000511108.1_Silent_p.G529G|GUCY1A3_ENST00000511507.1_Silent_p.G529G|GUCY1A3_ENST00000513574.1_Silent_p.G529G			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	529	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				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)	p.G529G(1)		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)		AGACCATTGGCGATGCCTATT	0.413																																																1	Substitution - coding silent(1)	large_intestine(1)											135	130	132					4																	156638325		2203	4300	6503	SO:0001819	synonymous_variant	2982				CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.1587C>T	4.37:g.156638325C>T			D3DP19|D6RDW3|O43843|Q8TAH3	Silent	SNP	ENST00000296518.7	37	CCDS34085.1																																																																																				0.413	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2			T	156638325	C	T	156638325	2	4	751	1	0	0	0	0	0	0	0	1	6896	755	27	1		1	GUCY1A3	4	156638325	Silent	SNP	C	TCGA-KO-8410-01A-11D-2310-10	57297122	156638325	34515951	20	44206											
FRG1	2483	mdanderson.org	37	4	190876272	190876272	+	Missense_Mutation	SNP	G	G	A	rs202104107		TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr4:190876272G>A	ENST00000226798.4	+	5	620	c.398G>A	c.(397-399)gGa>gAa	p.G133E	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	133					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)		GATGCAATTGGACCAAGAGAA	0.363																																																0													90	90	90					4																	190876272		2203	4300	6503	SO:0001583	missense	2483			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.398G>A	4.37:g.190876272G>A	ENSP00000226798:p.Gly133Glu		A8K775	Missense_Mutation	SNP	ENST00000226798.4	37	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	23.5	4.419225	0.83559	.	.	ENSG00000109536	ENST00000226798;ENST00000531991	T;T	0.63417	1.82;-0.04	4.04	4.04	0.47022	Actin cross-linking (1);	0.047717	0.85682	D	0.000000	T	0.75810	0.3900	M	0.87900	2.915	0.80722	D	1	P	0.50156	0.932	P	0.53401	0.725	T	0.81885	-0.0727	10	0.72032	D	0.01	5.2981	14.145	0.65344	0.0:0.0:1.0:0.0	.	133	Q14331	FRG1_HUMAN	E	133;70	ENSP00000226798:G133E;ENSP00000435943:G70E	ENSP00000226798:G133E	G	+	2	0	FRG1	191113266	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.413000	0.80104	1.964000	0.57103	0.567000	0.79289	GGA		0.363	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		A	190876272	G	A	190876272	3	1	751	1	0	0	0	0	1	0	0	0	6048	1174	41	2	416	2	FRG1	4	190876272	Missense_Mutation	SNP	G	TCGA-KO-8410-01A-11D-2310-10	34237947	190876272	278004	21	44207			2	116		2	2	36	G		7.687852e-05
FRG1	2483	mdanderson.org	37	4	190876307	190876307	+	Splice_Site	SNP	G	G	A	rs200854715		TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr4:190876307G>A	ENST00000226798.4	+	5	654		c.e5+1		FRG1_ENST00000514482.1_Splice_Site	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1						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)		CTTTCAAAATGTAAGTGCTGT	0.328																																																0													74	74	74					4																	190876307		2202	4295	6497	SO:0001630	splice_region_variant	2483			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.432+1G>A	4.37:g.190876307G>A			A8K775	Splice_Site	SNP	ENST00000226798.4	37	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	N	18.80	3.700931	0.68501	.	.	ENSG00000109536	ENST00000226798;ENST00000531991	.	.	.	3.88	3.88	0.44766	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7779	0.63066	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FRG1	191113301	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	7.413000	0.80104	1.879000	0.54435	0.567000	0.79289	.		0.328	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477	Intron	A	190876307	G	A	190876307	5	1	751	1	0	0	0	0	0	0	1	0	6048	1391	48	2	451	2	FRG1	4	190876307	Splice_Site	SNP	G	TCGA-KO-8410-01A-11D-2310-10	35	190876307	277969	22	44208			2	116		2	2	36	G		7.687852e-05
LMBRD2	92255	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	5	36136550	36136550	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr5:36136550C>T	ENST00000296603.4	-	6	1070	c.608G>A	c.(607-609)gGg>gAg	p.G203E		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	203						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)			CAAGCCATACCCCAACAACAA	0.413																																																0													155	153	154					5																	36136550		2203	4300	6503	SO:0001583	missense	92255				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.608G>A	5.37:g.36136550C>T	ENSP00000296603:p.Gly203Glu		B3KRB6|Q9NTC7	Missense_Mutation	SNP	ENST00000296603.4	37	CCDS34145.1	.	.	.	.	.	.	.	.	.	.	C	35	5.418317	0.96092	.	.	ENSG00000164187	ENST00000296603;ENST00000546130	T	0.46451	0.87	6.17	6.17	0.99709	LMBR1-like membrane protein (1);	0.000000	0.85682	D	0.000000	T	0.71533	0.3351	M	0.85777	2.775	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73344	-0.4012	10	0.87932	D	0	-15.2823	20.8794	0.99867	0.0:1.0:0.0:0.0	.	203	Q68DH5	LMBD2_HUMAN	E	203;97	ENSP00000296603:G203E	ENSP00000296603:G203E	G	-	2	0	LMBRD2	36172307	1.000000	0.71417	0.991000	0.47740	0.950000	0.60333	7.401000	0.79962	2.941000	0.99782	0.655000	0.94253	GGG		0.413	LMBRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367552.1	NM_001007527		T	36136550	C	T	36136550	3	4	751	1	0	0	0	0	1	0	0	0	8845	623	22	2	1531	2	LMBRD2	5	36136550	Missense_Mutation	SNP	C	TCGA-KO-8410-01A-11D-2310-10		36136550	144778710	23	44209											
ITGA2	3673	broad.mit.edu;hgsc.bcm.edu	37	5	52376390	52376393	+	Frame_Shift_Del	DEL	TCCC	TCCC	-			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	TCCC	TCCC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr5:52376390_52376393delTCCC	ENST00000296585.5	+	25	3121_3124	c.2978_2981delTCCC	c.(2977-2982)atccctfs	p.IP993fs		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	993					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)				ATCATCCACATCCCTCAGTATACC	0.387																																																0																																										SO:0001589	frameshift_variant	3673				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.2978_2981delTCCC	5.37:g.52376390_52376393delTCCC	ENSP00000296585:p.Ile993fs		Q14595	Frame_Shift_Del	DEL	ENST00000296585.5	37	CCDS3957.1																																																																																				0.387	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	NM_002203		-	52376393	TCCC	-	52376390	7	5	751	1	0	1	0	1	0	0	0	0	7877	1435	50	0	3076	0	ITGA2	5	52376390	Frame_Shift_Del	DEL	TCCC	TCGA-KO-8410-01A-11D-2310-10	16239840	52376390	128538870	24	44210	450	2									
ITGA2	3673	bcgsc.ca	37	5	52376391	52376394	+	Frame_Shift_Del	DEL	TCCC	TCCC	-			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	TCCC	TCCC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr5:52376391_52376394delTCCC	ENST00000296585.5	+	25	3122_3125	c.2979_2982delTCCC	c.(2977-2982)attcccfs	p.IP993fs		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	993					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)				TCATCCACATCCCTCAGTATACCA	0.392																																																0																																										SO:0001589	frameshift_variant	3673				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.2979_2982delTCCC	5.37:g.52376391_52376394delTCCC	ENSP00000296585:p.Ile993fs		Q14595	Frame_Shift_Del	DEL	ENST00000296585.5	37	CCDS3957.1																																																																																				0.392	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	NM_002203		-	52376394	TCCC	-	52376391	7	5	751	1	0	1	0	1	0	0	0	0	7877	845	30	0	3077	0	ITGA2	5	52376391	Frame_Shift_Del	DEL	TCCC	TCGA-KO-8410-01A-11D-2310-10	1	52376391	128538869	25	44211	450	2									
ADAMTS19	171019	ucsc.edu	37	5	128990039	128990039	+	Silent	SNP	A	A	G			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr5:128990039A>G	ENST00000274487.4	+	14	2344	c.2199A>G	c.(2197-2199)gaA>gaG	p.E733E	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	733	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)		TTGGAAAAGAACAGCCTATTC	0.368																																																0													94	98	97					5																	128990039		2203	4300	6503	SO:0001819	synonymous_variant	171019			AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"ADAM metallopeptidases with thrombospondin type 1 motif"	17111	protein-coding gene	gene with protein product		607513	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.2199A>G	5.37:g.128990039A>G				Silent	SNP	ENST00000274487.4	37	CCDS4146.1																																																																																				0.368	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		G	128990039	A	G	128990039	2	3	751	1	0	0	0	0	0	0	0	1	264	40	2	3		3	ADAMTS19	5	128990039	Silent	SNP	A	TCGA-KO-8410-01A-11D-2310-10	76613648	128990039	51925221	26	44212											
NUPL2	11097	ucsc.edu	37	7	23221811	23221811	+	Missense_Mutation	SNP	A	A	G	rs145987368	byFrequency	TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr7:23221811A>G	ENST00000258742.5	+	1	366	c.107A>G	c.(106-108)cAg>cGg	p.Q36R	NUPL2_ENST00000410002.3_Missense_Mutation_p.Q36R|AC005082.1_ENST00000366347.4_Intron|NUPL2_ENST00000487595.1_3'UTR	NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	36					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						CAGCAACCGCAGCAGCAGCCT	0.642																																																0													51	41	45					7																	23221811		2203	4300	6503	SO:0001583	missense	11097			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.107A>G	7.37:g.23221811A>G	ENSP00000258742:p.Gln36Arg		A4D143|B4DP42|Q49AE7|Q9BS49	Missense_Mutation	SNP	ENST00000258742.5	37	CCDS5379.1	.	.	.	.	.	.	.	.	.	.	A	10.72	1.429312	0.25726	.	.	ENSG00000136243	ENST00000258742;ENST00000410002;ENST00000413919	T;T;T	0.43688	0.94;0.94;0.94	3.37	-0.0117	0.13991	.	0.351400	0.30093	N	0.010424	T	0.29355	0.0731	L	0.56769	1.78	0.09310	N	1	B	0.32160	0.358	B	0.32805	0.153	T	0.12192	-1.0557	10	0.30854	T	0.27	0.0757	1.0493	0.01576	0.3687:0.3359:0.1191:0.1763	.	36	O15504	NUPL2_HUMAN	R	36	ENSP00000258742:Q36R;ENSP00000387330:Q36R;ENSP00000401475:Q36R	ENSP00000258742:Q36R	Q	+	2	0	NUPL2	23188336	0.739000	0.28196	0.001000	0.08648	0.061000	0.15899	0.682000	0.25335	-0.130000	0.11599	0.533000	0.62120	CAG		0.642	NUPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214017.2	NM_007342		G	23221811	A	G	23221811	3	3	751	1	0	0	0	0	1	0	0	0	10777	188	7	3	109	3	NUPL2	7	23221811	Missense_Mutation	SNP	A	TCGA-KO-8410-01A-11D-2310-10		23221811	135916852	27	44213											
AMAC1L2	83650	mdanderson.org	37	8	11188806	11188806	+	Missense_Mutation	SNP	G	G	C			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr8:11188806G>C	ENST00000382435.4	+	1	410	c.191G>C	c.(190-192)gGt>gCt	p.G64A		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	64	EamA 1.					integral component of membrane (GO:0016021)		p.G64A(1)									GCTTACCAGGGTTCCAACCTG	0.637																																																1	Substitution - Missense(1)	skin(1)											151	146	148					8																	11188806		2203	4300	6503	SO:0001583	missense	83650			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.191G>C	8.37:g.11188806G>C	ENSP00000371872:p.Gly64Ala		A2RRL6	Missense_Mutation	SNP	ENST00000382435.4	37	CCDS5980.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.054055	0.00390	.	.	ENSG00000177710	ENST00000382435	T	0.50277	0.75	0.34	0.34	0.15985	.	0.536315	0.15627	N	0.252577	T	0.16471	0.0396	N	0.02539	-0.55	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.25847	-1.0120	10	0.07644	T	0.81	-3.0E-4	6.0882	0.19978	0.0:0.3644:0.6356:0.0	.	64	Q96KT7	S35G5_HUMAN	A	64	ENSP00000371872:G64A	ENSP00000371872:G64A	G	+	2	0	SLC35G5	11226216	0.005000	0.15991	0.845000	0.33349	0.156000	0.22039	0.073000	0.14640	-1.304000	0.02329	-1.954000	0.00483	GGT		0.637	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207313.2	NM_054028		C	11188806	G	C	11188806	3	2	751	1	0	0	0	0	1	0	0	0	560	1261	44	4	193	4	AMAC1L2	8	11188806	Missense_Mutation	SNP	G	TCGA-KO-8410-01A-11D-2310-10		11188806	135175216	28	44214			3	117		3	3	680	N	G_C	1.109546e-06
AMAC1L2	83650	mdanderson.org	37	8	11189464	11189464	+	Silent	SNP	C	C	T	rs58771247	byFrequency	TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr8:11189464C>T	ENST00000382435.4	+	1	1068	c.849C>T	c.(847-849)tgC>tgT	p.C283C		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	283	EamA 2.					integral component of membrane (GO:0016021)											CCCTGGTGTGCGCTGTCCTGC	0.577													C|||	221	0.0441294	0.1626	0.0072	5008	,	,		18296	0.0		0.0	False		,,,				2504	0.001															0								C		547,3859	227.5+/-242.7	29,489,1685	128	122	124		849		0.2	8	dbSNP_129	124	4,8594	3.7+/-12.6	0,4,4295	no	coding-synonymous	SLC35G5	NM_054028.1		29,493,5980	TT,TC,CC		0.0465,12.4149,4.2372		283/339	11189464	551,12453	2203	4299	6502	SO:0001819	synonymous_variant	83650			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.849C>T	8.37:g.11189464C>T			A2RRL6	Silent	SNP	ENST00000382435.4	37	CCDS5980.1																																																																																				0.577	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207313.2	NM_054028		T	11189464	C	T	11189464	2	4	751	1	0	0	0	0	0	0	0	1	560	776	27	1		1	AMAC1L2	8	11189464	Silent	SNP	C	TCGA-KO-8410-01A-11D-2310-10	658	11189464	135174558	29	44215			3	117		3	3	680	N	G_C	1.109546e-06
AMAC1L2	83650	mdanderson.org	37	8	11189485	11189485	+	Silent	SNP	G	G	T			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr8:11189485G>T	ENST00000382435.4	+	1	1089	c.870G>T	c.(868-870)gtG>gtT	p.V290V		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	290	EamA 2.					integral component of membrane (GO:0016021)											ATTCCGAGGTGGTTGTGGCCC	0.572																																																0													131	119	123					8																	11189485		2203	4299	6502	SO:0001819	synonymous_variant	83650			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.870G>T	8.37:g.11189485G>T			A2RRL6	Silent	SNP	ENST00000382435.4	37	CCDS5980.1																																																																																				0.572	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207313.2	NM_054028		T	11189485	G	T	11189485	2	4	751	1	0	0	0	0	0	0	0	1	560	1335	47	4		4	AMAC1L2	8	11189485	Silent	SNP	G	TCGA-KO-8410-01A-11D-2310-10	21	11189485	135174537	30	44216			3	117		3	3	680	N	G_C	1.109546e-06
ADAM9	8754	bcgsc.ca	37	8	38912013	38912013	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr8:38912013A>G	ENST00000487273.2	+	13	1394	c.1316A>G	c.(1315-1317)gAc>gGc	p.D439G		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	439	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				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)			TGTGAATTGGACCCTTGCTGC	0.358																																																0													130	112	118					8																	38912013		2203	4300	6503	SO:0001583	missense	8754			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.1316A>G	8.37:g.38912013A>G	ENSP00000419446:p.Asp439Gly		B7ZLN7|Q10718|Q8NFM6	Missense_Mutation	SNP	ENST00000487273.2	37	CCDS6112.1	.	.	.	.	.	.	.	.	.	.	A	28.6	4.937918	0.92526	.	.	ENSG00000168615	ENST00000487273	T	0.13196	2.61	5.77	5.77	0.91146	Blood coagulation inhibitor, Disintegrin (5);	0.143965	0.64402	D	0.000007	T	0.38931	0.1059	M	0.79926	2.475	0.80722	D	1	D	0.56746	0.977	D	0.62955	0.909	T	0.28396	-1.0045	10	0.72032	D	0.01	.	16.0937	0.81106	1.0:0.0:0.0:0.0	.	439	Q13443	ADAM9_HUMAN	G	439	ENSP00000419446:D439G	ENSP00000369249:D439G	D	+	2	0	ADAM9	39031170	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.766000	0.91728	2.211000	0.71520	0.455000	0.32223	GAC		0.358	ADAM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357291.2			G	38912013	A	G	38912013	3	3	751	1	0	0	0	0	1	0	0	0	253	275	10	3	1366	3	ADAM9	8	38912013	Missense_Mutation	SNP	A	TCGA-KO-8410-01A-11D-2310-10	27722528	38912013	107452009	31	44217											
ADHFE1	137872	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	8	67357454	67357454	+	Splice_Site	SNP	T	T	G			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr8:67357454T>G	ENST00000396623.3	+	6	386	c.355T>G	c.(355-357)Ttc>Gtc	p.F119V	ADHFE1_ENST00000415254.1_Splice_Site_p.F71V|ADHFE1_ENST00000379385.4_Splice_Site_p.F119V|ADHFE1_ENST00000496501.1_3'UTR	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	119					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|molecular hydrogen transport (GO:0015993)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxyacid-oxoacid transhydrogenase activity (GO:0047988)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			TTCTCCAAGCTTCATGGAAGC	0.403																																																0													84	77	79					8																	67357454		2203	4300	6503	SO:0001630	splice_region_variant	137872			AK056992	CCDS6190.2	8q12.3	2013-05-21			ENSG00000147576	ENSG00000147576	1.1.99.24	"Alcohol dehydrogenases"	16354	protein-coding gene	gene with protein product	"hydroxyacid-oxoacid transhydrogenase"	611083				12592711	Standard	NM_144650		Approved	ADHFe1, FLJ32430	uc003xwb.4	Q8IWW8	OTTHUMG00000150215	ENST00000396623.3:c.354-1T>G	8.37:g.67357454T>G			B4DTJ8|Q49A19|Q68CI7|Q6P2B6|Q96MF9	Missense_Mutation	SNP	ENST00000396623.3	37	CCDS6190.2	.	.	.	.	.	.	.	.	.	.	T	15.76	2.929052	0.52759	.	.	ENSG00000147576	ENST00000523113;ENST00000379385;ENST00000396623;ENST00000415254	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	5.64	5.64	0.86602	Alcohol dehydrogenase, iron-type (1);	0.000000	0.85682	D	0.000000	T	0.38081	0.1027	N	0.20304	0.555	0.80722	D	1	P	0.51933	0.949	D	0.62955	0.909	T	0.13361	-1.0512	10	0.27785	T	0.31	-13.8237	15.8683	0.79084	0.0:0.0:0.0:1.0	.	119	Q8IWW8	HOT_HUMAN	V	54;119;119;71	ENSP00000428055:F54V;ENSP00000368695:F119V;ENSP00000379865:F119V;ENSP00000407115:F71V	ENSP00000368695:F119V	F	+	1	0	ADHFE1	67520008	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.707000	0.84623	2.148000	0.66965	0.533000	0.62120	TTC		0.403	ADHFE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316867.3	NM_144650	Missense_Mutation	G	67357454	T	G	67357454	5	3	751	1	0	0	0	0	0	0	1	0	314	1623	56	5	377	5	ADHFE1	8	67357454	Splice_Site	SNP	T	TCGA-KO-8410-01A-11D-2310-10	28445441	67357454	79006568	32	44218											
FAM135B	51059	broad.mit.edu	37	8	139165349	139165349	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr8:139165349T>C	ENST00000395297.1	-	13	1539	c.1369A>G	c.(1369-1371)Agg>Ggg	p.R457G		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	457										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AGGTCTTCCCTAAAAGATAAA	0.373										HNSCC(54;0.14)																																						0													76	73	74					8																	139165349		1884	4109	5993	SO:0001583	missense	51059			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.1369A>G	8.37:g.139165349T>C	ENSP00000378710:p.Arg457Gly		B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	T	6.245	0.413338	0.11812	.	.	ENSG00000147724	ENST00000395297	T	0.16073	2.37	5.6	4.42	0.53409	.	1.343740	0.04323	N	0.350980	T	0.29093	0.0723	L	0.57536	1.79	0.09310	N	1	D;P;B	0.53462	0.96;0.775;0.22	P;B;B	0.47891	0.56;0.382;0.086	T	0.20571	-1.0271	10	0.51188	T	0.08	-0.0111	10.8283	0.46647	0.0:0.0:0.1583:0.8417	.	457;457;457	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	G	457	ENSP00000378710:R457G	ENSP00000276737:R457G	R	-	1	2	FAM135B	139234531	0.000000	0.05858	0.001000	0.08648	0.040000	0.13550	0.302000	0.19192	0.935000	0.37341	0.533000	0.62120	AGG		0.373	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		C	139165349	T	C	139165349	3	2	751	1	0	0	0	0	1	0	0	0	5451	1521	53	3	2883	3	FAM135B	8	139165349	Missense_Mutation	SNP	T	TCGA-KO-8410-01A-11D-2310-10	71807895	139165349	7198673	33	44219											
ELAVL2	1993	broad.mit.edu	37	9	23762052	23762052	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr9:23762052T>C	ENST00000397312.2	-	2	455	c.181A>G	c.(181-183)Agc>Ggc	p.S61G	ELAVL2_ENST00000544538.1_Missense_Mutation_p.S61G|ELAVL2_ENST00000380110.4_Missense_Mutation_p.S90G|ELAVL2_ENST00000223951.6_Missense_Mutation_p.S61G|ELAVL2_ENST00000380117.1_Missense_Mutation_p.S61G|ELAVL2_ENST00000462649.1_5'Flank	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	61	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				regulation of transcription, DNA-templated (GO:0006355)		mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		TCACCAATGCTCCCAAAGAGA	0.393																																																0													193	179	184					9																	23762052		2203	4300	6503	SO:0001583	missense	1993			BC030692	CCDS6515.1, CCDS55298.1	9p21	2013-10-03	2013-10-03		ENSG00000107105	ENSG00000107105		"RNA binding motif (RRM) containing"	3313	protein-coding gene	gene with protein product	"Hu antigen B"	601673	"ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2", "ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)"			8812435	Standard	NM_004432		Approved	HuB, HEL-N1	uc003zpu.3	Q12926	OTTHUMG00000019700	ENST00000397312.2:c.181A>G	9.37:g.23762052T>C	ENSP00000380479:p.Ser61Gly		D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Missense_Mutation	SNP	ENST00000397312.2	37	CCDS6515.1	.	.	.	.	.	.	.	.	.	.	T	17.34	3.364284	0.61513	.	.	ENSG00000107105	ENST00000223951;ENST00000397312;ENST00000544538;ENST00000380110;ENST00000380117;ENST00000359598;ENST00000440102	T;T;T;T;T	0.15487	2.42;2.42;2.42;2.42;2.42	5.92	5.92	0.95590	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.28797	0.0714	L	0.31294	0.92	0.80722	D	1	D;D	0.63880	0.989;0.993	P;P	0.60682	0.805;0.878	T	0.01874	-1.1256	10	0.87932	D	0	.	16.371	0.83361	0.0:0.0:0.0:1.0	.	61;61	Q12926;Q12926-2	ELAV2_HUMAN;.	G	61;61;61;61;61;89;61	ENSP00000223951:S61G;ENSP00000380479:S61G;ENSP00000440998:S61G;ENSP00000369460:S61G;ENSP00000412602:S61G	ENSP00000223951:S61G	S	-	1	0	ELAVL2	23752052	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.295000	0.72744	2.267000	0.75376	0.477000	0.44152	AGC		0.393	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051943.2	NM_004432		C	23762052	T	C	23762052	3	2	751	1	0	0	0	0	1	0	0	0	5052	1551	54	3	922	3	ELAVL2	9	23762052	Missense_Mutation	SNP	T	TCGA-KO-8410-01A-11D-2310-10		23762052	117451379	34	44220											
OR13C2	392376	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	9	107367862	107367862	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr9:107367862C>T	ENST00000542196.1	-	1	89	c.47G>A	c.(46-48)gGa>gAa	p.G16E		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	16						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(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						ACCAGAAAGTCCCTTCAGAAA	0.373																																																0													38	42	41					9																	107367862		2192	4293	6485	SO:0001583	missense	392376				CCDS35092.1	9q31.1	2012-10-03			ENSG00000257019	ENSG00000276119		"GPCR / Class A : Olfactory receptors"	14701	protein-coding gene	gene with protein product							Standard	NM_001004481		Approved		uc011lvq.2	Q8NGS9	OTTHUMG00000020415	ENST00000542196.1:c.47G>A	9.37:g.107367862C>T	ENSP00000438815:p.Gly16Glu		B9EGV8|Q6IF54	Missense_Mutation	SNP	ENST00000542196.1	37	CCDS35092.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.129777	0.37630	.	.	ENSG00000257019	ENST00000542196	T	0.00655	5.95	3.39	3.39	0.38822	.	0.000000	0.37261	U	0.002175	T	0.05090	0.0136	M	0.92412	3.305	0.09310	N	1	D	0.89917	1.0	D	0.74674	0.984	T	0.04885	-1.0920	10	0.87932	D	0	.	8.5624	0.33518	0.0:0.7617:0.2383:0.0	.	16	Q8NGS9	O13C2_HUMAN	E	16	ENSP00000438815:G16E	ENSP00000438815:G16E	G	-	2	0	OR13C2	106407683	0.006000	0.16342	0.693000	0.30195	0.714000	0.41099	1.382000	0.34374	1.723000	0.51488	0.462000	0.41574	GGA		0.373	OR13C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053489.2	NM_001004481		T	107367862	C	T	107367862	3	4	751	1	0	0	0	0	1	0	0	0	10936	855	30	2	912	2	OR13C2	9	107367862	Missense_Mutation	SNP	C	TCGA-KO-8410-01A-11D-2310-10	83605810	107367862	33845569	35	44221											
SIRT1	23411	broad.mit.edu	37	10	69648852	69648852	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr10:69648852delA	ENST00000212015.6	+	3	813	c.760delA	c.(760-762)aaafs	p.K255fs	SIRT1_ENST00000432464.1_Intron|SIRT1_ENST00000406900.1_5'Flank|SIRT1_ENST00000497639.1_3'UTR	NM_012238.4	NP_036370.2	Q96EB6	SIR1_HUMAN	sirtuin 1	255	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.|Interaction with CCAR2.|Interaction with HIST1H1E.				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						GCAAGAGTGCAAAAAAATTAT	0.333																																																0													51	55	54					10																	69648852		2202	4299	6501	SO:0001589	frameshift_variant	23411			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.760delA	10.37:g.69648852delA	ENSP00000212015:p.Lys255fs		Q2XNF6|Q5JVQ0|Q9GZR9|Q9Y6F0	Frame_Shift_Del	DEL	ENST00000212015.6	37	CCDS7273.1																																																																																				0.333	SIRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048296.1			-	69648852	A	-	69648852	7	5	751	1	0	1	0	1	0	0	0	0	14343	131	5	0	770	0	SIRT1	10	69648852	Frame_Shift_Del	DEL	A	TCGA-KO-8410-01A-11D-2310-10		69648852	65885895	36	44222											
LZTS2	84445	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	10	102762597	102762597	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr10:102762597C>T	ENST00000370220.1	+	1	3365	c.302C>T	c.(301-303)cCc>cTc	p.P101L	LZTS2_ENST00000370223.3_Missense_Mutation_p.P101L					leucine zipper, putative tumor suppressor 2											breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		GAGTCACCCCCCAGCCCAAGC	0.622																																					Esophageal Squamous(8;38 437 13604 19902 37640)											0													48	51	50					10																	102762597		2203	4300	6503	SO:0001583	missense	84445			AB058716	CCDS7507.1	10q24	2004-03-18			ENSG00000107816	ENSG00000107816			29381	protein-coding gene	gene with protein product		610454				11347906, 11709705	Standard	NM_032429		Approved	KIAA1813, LAPSER1	uc001ksj.3	Q9BRK4	OTTHUMG00000018914	ENST00000370220.1:c.302C>T	10.37:g.102762597C>T	ENSP00000359240:p.Pro101Leu			Missense_Mutation	SNP	ENST00000370220.1	37	CCDS7507.1	.	.	.	.	.	.	.	.	.	.	C	13.74	2.326461	0.41197	.	.	ENSG00000107816	ENST00000426584;ENST00000370223;ENST00000429732;ENST00000315797;ENST00000370220;ENST00000454422	T;T	0.29397	1.57;1.57	4.78	4.78	0.61160	.	0.575630	0.18935	N	0.127095	T	0.14184	0.0343	N	0.08118	0	0.40738	D	0.982809	B	0.14012	0.009	B	0.06405	0.002	T	0.14309	-1.0477	10	0.21014	T	0.42	-13.9989	7.7296	0.28779	0.0:0.8173:0.0:0.1826	.	101	Q9BRK4	LZTS2_HUMAN	L	101	ENSP00000359243:P101L;ENSP00000359240:P101L	ENSP00000314437:P101L	P	+	2	0	LZTS2	102752587	0.018000	0.18449	0.992000	0.48379	0.934000	0.57294	0.303000	0.19210	2.349000	0.79799	0.561000	0.74099	CCC		0.622	LZTS2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049872.1	XM_046743		T	102762597	C	T	102762597	3	4	751	1	0	0	0	0	1	0	0	0	9141	623	22	2	304	2	LZTS2	10	102762597	Missense_Mutation	SNP	C	TCGA-KO-8410-01A-11D-2310-10	33113745	102762597	32772150	37	44223											
STK32C	282974	ucsc.edu	37	10	134121101	134121101	+	Intron	SNP	C	C	T			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr10:134121101C>T	ENST00000368625.4	-	1	387				STK32C_ENST00000368622.1_5'Flank					serine/threonine kinase 32C											breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23		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)		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)		CAAACACCGGCCTCCGCGCGG	0.706																																																0													24	28	26					10																	134121101		2164	4242	6406	SO:0001627	intron_variant	282974			AK057849	CCDS7666.1	10q26.3	2004-07-22			ENSG00000165752	ENSG00000165752			21332	protein-coding gene	gene with protein product							Standard	NM_173575		Approved	PKE, MGC23665, YANK3	uc001lle.1	Q86UX6	OTTHUMG00000019285	ENST00000368625.4:c.301+23838G>A	10.37:g.134121101C>T				Silent	SNP	ENST00000368625.4	37																																																																																					0.706	STK32C-201	KNOWN	basic	protein_coding	protein_coding		NM_173575		T	134121101	C	T	134121101	1	4	751	0	1	0	0	0	0	0	0	0	15304	738	26	2		2	STK32C	10	134121101	Intron	SNP	C	TCGA-KO-8410-01A-11D-2310-10	31358504	134121101	1413646	38	44224											
MUC6	4588	mdanderson.org	37	11	1016773	1016773	+	Missense_Mutation	SNP	G	G	T			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr11:1016773G>T	ENST00000421673.2	-	31	6078	c.6028C>A	c.(6028-6030)Cca>Aca	p.P2010T		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2010	Thr-rich.				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)		GAGAAAGGTGGAACGTGAGTG	0.532																																																0													1076	1024	1042					11																	1016773		2203	4299	6502	SO:0001583	missense	4588			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.6028C>A	11.37:g.1016773G>T	ENSP00000406861:p.Pro2010Thr		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	9.910	1.209366	0.22289	.	.	ENSG00000184956	ENST00000421673	T	0.57595	0.39	2.46	-2.25	0.06888	.	.	.	.	.	T	0.38081	0.1027	M	0.65975	2.015	0.09310	N	1	B	0.33413	0.411	B	0.26614	0.071	T	0.27020	-1.0086	9	0.34782	T	0.22	.	0.3267	0.00312	0.277:0.2017:0.3162:0.2051	.	2010	Q6W4X9	MUC6_HUMAN	T	2010	ENSP00000406861:P2010T	ENSP00000406861:P2010T	P	-	1	0	MUC6	1006773	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.333000	0.07894	-0.535000	0.06307	0.313000	0.20887	CCA		0.532	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		T	1016773	G	T	1016773	3	4	751	1	0	0	0	0	1	0	0	0	9982	1174	41	4	1303	4	MUC6	11	1016773	Missense_Mutation	SNP	G	TCGA-KO-8410-01A-11D-2310-10		1016773	133989743	39	44225	451	3									
MUC6	4588	mdanderson.org	37	11	1016777	1016777	+	Silent	SNP	G	G	A			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr11:1016777G>A	ENST00000421673.2	-	31	6074	c.6024C>T	c.(6022-6024)caC>caT	p.H2008H		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2008	Thr-rich.				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)		AAGGTGGAACGTGAGTGGGAA	0.537																																																0													1121	1075	1090					11																	1016777		2203	4299	6502	SO:0001819	synonymous_variant	4588			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.6024C>T	11.37:g.1016777G>A			O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	CCDS44513.1																																																																																				0.537	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		A	1016777	G	A	1016777	2	1	751	1	0	0	0	0	0	0	0	1	9982	1136	40	1		1	MUC6	11	1016777	Silent	SNP	G	TCGA-KO-8410-01A-11D-2310-10	4	1016777	133989739	40	44226	451	3									
MUC6	4588	mdanderson.org	37	11	1016787	1016787	+	Missense_Mutation	SNP	A	A	T			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr11:1016787A>T	ENST00000421673.2	-	31	6064	c.6014T>A	c.(6013-6015)cTt>cAt	p.L2005H		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2005	Thr-rich.				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)		GTGAGTGGGAAGTGTGGTCTG	0.537																																																0													1245	1214	1224					11																	1016787		2203	4299	6502	SO:0001583	missense	4588			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.6014T>A	11.37:g.1016787A>T	ENSP00000406861:p.Leu2005His		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	A	12.06	1.823722	0.32237	.	.	ENSG00000184956	ENST00000421673	T	0.21932	1.98	3.08	-6.16	0.02098	.	.	.	.	.	T	0.14313	0.0346	L	0.58101	1.795	0.09310	N	1	B	0.18461	0.028	B	0.14578	0.011	T	0.28681	-1.0036	9	0.42905	T	0.14	.	0.294	0.00262	0.2732:0.2364:0.2565:0.234	.	2005	Q6W4X9	MUC6_HUMAN	H	2005	ENSP00000406861:L2005H	ENSP00000406861:L2005H	L	-	2	0	MUC6	1006787	.	.	0.000000	0.03702	0.038000	0.13279	.	.	-2.379000	0.00595	0.254000	0.18369	CTT		0.537	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		T	1016787	A	T	1016787	3	4	751	1	0	0	0	0	1	0	0	0	9982	72	3	5	1317	5	MUC6	11	1016787	Missense_Mutation	SNP	A	TCGA-KO-8410-01A-11D-2310-10	10	1016787	133989729	41	44227	451	3									
MUC6	4588	mdanderson.org	37	11	1017162	1017162	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr11:1017162G>A	ENST00000421673.2	-	31	5689	c.5639C>T	c.(5638-5640)cCg>cTg	p.P1880L		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1880	Approximate repeats.|Thr-rich.			PTTIKA -> LTTLMN (in Ref. 5; AAA35866). {ECO:0000305}.	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)		GATCGTGGTCGGTGGAGGAAT	0.572																																																0													537	524	529					11																	1017162		2201	4287	6488	SO:0001583	missense	4588			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.5639C>T	11.37:g.1017162G>A	ENSP00000406861:p.Pro1880Leu		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	1.995	-0.430731	0.04669	.	.	ENSG00000184956	ENST00000421673	T	0.24538	1.85	3.05	-4.43	0.03568	.	.	.	.	.	T	0.07728	0.0194	N	0.02539	-0.55	0.09310	N	1	B	0.31351	0.32	B	0.30179	0.112	T	0.29397	-1.0013	9	0.33141	T	0.24	.	4.4014	0.11388	0.2204:0.0:0.3208:0.4588	.	1880	Q6W4X9	MUC6_HUMAN	L	1880	ENSP00000406861:P1880L	ENSP00000406861:P1880L	P	-	2	0	MUC6	1007162	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.624000	0.05540	-0.880000	0.03997	-0.823000	0.03104	CCG		0.572	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		A	1017162	G	A	1017162	3	1	751	1	0	0	0	0	1	0	0	0	9982	1116	39	1	1692	1	MUC6	11	1017162	Missense_Mutation	SNP	G	TCGA-KO-8410-01A-11D-2310-10	375	1017162	133989354	42	44228											
OR4C3	256144	mdanderson.org	37	11	48346513	48346513	+	Silent	SNP	T	T	C	rs78206553	byFrequency	TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr11:48346513T>C	ENST00000319856.4	+	1	42	c.21T>C	c.(19-21)ctT>ctC	p.L7L		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	0						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(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TTCTATTACTTATGTTTCTCC	0.353																																																0													114	119	117					11																	48346513		2201	4298	6499	SO:0001819	synonymous_variant	256144			AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"GPCR / Class A : Olfactory receptors"	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.21T>C	11.37:g.48346513T>C			B2RNF2|Q6IFB3	Silent	SNP	ENST00000319856.4	37	CCDS31489.1																																																																																				0.353	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390557.1	NM_001004702		C	48346513	T	C	48346513	2	2	751	1	0	0	0	0	0	0	0	1	11052	1741	61	3		3	OR4C3	11	48346513	Silent	SNP	T	TCGA-KO-8410-01A-11D-2310-10	47329351	48346513	86660003	43	44229											
PRB2	653247	mdanderson.org	37	12	11546395	11546395	+	Missense_Mutation	SNP	G	G	T	rs11054277	byFrequency	TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr12:11546395G>T	ENST00000389362.4	-	3	652	c.617C>A	c.(616-618)cCa>cAa	p.P206Q	PRB1_ENST00000546254.1_Intron|PRB2_ENST00000545829.1_5'Flank	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	206	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)		p.P185Q(1)|p.P206Q(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GCCTCCTTGTGGGGGTGGTCC	0.602													g|||	257	0.0513179	0.0091	0.062	5008	,	,		19479	0.0804		0.1113	False		,,,				2504	0.0092															2	Substitution - Missense(2)	lung(2)											68	78	75					12																	11546395		2075	4125	6200	SO:0001583	missense	653247			K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.617C>A	12.37:g.11546395G>T	ENSP00000374013:p.Pro206Gln		O00599|P02811|P04281	Missense_Mutation	SNP	ENST00000389362.4	37	CCDS41757.2	.	.	.	.	.	.	.	.	.	.	.	13.45	2.239350	0.39598	.	.	ENSG00000121335	ENST00000389362	T	0.04551	3.6	1.46	-2.65	0.06095	.	0.000000	0.35466	U	0.003186	T	0.04907	0.0132	L	0.33792	1.035	0.22888	N	0.998607	D	0.59357	0.985	P	0.52031	0.688	T	0.29882	-0.9997	10	0.42905	T	0.14	.	3.3379	0.07107	0.2091:0.2667:0.5243:0.0	.	206	P02812	PRB2_HUMAN	Q	206	ENSP00000374013:P206Q	ENSP00000374013:P206Q	P	-	2	0	PRB2	11437662	0.001000	0.12720	0.029000	0.17559	0.747000	0.42532	-0.415000	0.07106	-0.824000	0.04295	0.291000	0.19559	CCA		0.602	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		T	11546395	G	T	11546395	3	4	751	1	0	0	0	0	1	0	0	0	12448	1348	47	4	637	4	PRB2	12	11546395	Missense_Mutation	SNP	G	TCGA-KO-8410-01A-11D-2310-10		11546395	122305500	44	44230											
LST-3TM12	338821	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	21242855	21242855	+	Missense_Mutation	SNP	G	G	A	rs112108376		TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr12:21242855G>A	ENST00000421593.2	+	13	1738	c.1738G>A	c.(1738-1740)Ggc>Agc	p.G580S	RP11-125O5.2_ENST00000590779.1_Intron|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.G627S|LST3_ENST00000540229.1_Missense_Mutation_p.G688S|LST3_ENST00000381541.3_Missense_Mutation_p.G627S|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.G688S	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	580						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						AGCCTTCTTCGGCTTGAAGGT	0.303													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15372	0.0		0.0	False		,,,				2504	0.0															0								G	SER/GLY	0,3646		0,0,1823	55	54	55		1738	0.7	0	12	dbSNP_132	55	3,8171		0,3,4084	yes	missense	SLCO1B7	NM_001009562.4	56	0,3,5907	AA,AG,GG		0.0367,0.0,0.0254		580/641	21242855	3,11817	1823	4087	5910	SO:0001583	missense	338821			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.1738G>A	12.37:g.21242855G>A	ENSP00000394168:p.Gly580Ser		Q71QF0	Missense_Mutation	SNP	ENST00000421593.2	37	CCDS44843.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	.	12.20	1.865807	0.32977	0.0	3.67E-4	ENSG00000111700;ENSG00000257046;ENSG00000257046;ENSG00000205754;ENSG00000205754;ENSG00000205754	ENST00000553473;ENST00000381541;ENST00000540229;ENST00000554957;ENST00000421593;ENST00000545916	D;T;D;T;D;T	0.86230	-2.09;0.99;-2.09;0.99;-2.09;-1.02	2.57	0.657	0.17850	.	0.060842	0.64402	N	0.000004	D	0.89100	0.6619	M	0.71206	2.165	0.09310	N	1	D;D;P	0.63046	0.992;0.992;0.792	P;P;B	0.62184	0.899;0.899;0.149	T	0.79750	-0.1672	10	0.56958	D	0.05	.	4.9992	0.14255	0.3056:0.0:0.6944:0.0	.	580;627;688	G3V0H7;F5H094;Q5JAR4	.;.;.	S	688;627;688;627;580;89	ENSP00000451758:G688S;ENSP00000370952:G627S;ENSP00000441269:G688S;ENSP00000452013:G627S;ENSP00000394168:G580S;ENSP00000439857:G89S	ENSP00000370952:G627S	G	+	1	0	SLCO1B3;SLCO1B7;RP11-545J16.1	21134122	0.059000	0.20769	0.001000	0.08648	0.001000	0.01503	0.457000	0.21875	0.151000	0.19162	0.505000	0.49811	GGC		0.303	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1	NM_001009562		A	21242855	G	A	21242855	3	1	751	1	0	0	0	0	1	0	0	0	9068	1116	39	1	1788	1	LST-3TM12	12	21242855	Missense_Mutation	SNP	G	TCGA-KO-8410-01A-11D-2310-10	9696460	21242855	112609040	45	44231											
ZDHHC17	23390	broad.mit.edu;mdanderson.org	37	12	77216266	77216266	+	Silent	SNP	A	A	G			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr12:77216266A>G	ENST00000426126.2	+	8	1501	c.852A>G	c.(850-852)aaA>aaG	p.K284K	ZDHHC17_ENST00000334822.5_Silent_p.K284K	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	284					lipoprotein transport (GO:0042953)|magnesium ion transport (GO:0015693)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein palmitoylation (GO:0018345)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|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)	identical protein binding (GO:0042802)|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)			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						GGCAAGCAAAAGGATATGACA	0.368																																																0													58	56	57					12																	77216266		1863	4108	5971	SO:0001819	synonymous_variant	23390			AB023163	CCDS44946.1	12q21.2	2013-01-10				ENSG00000186908		"Zinc fingers, DHHC-type", "Ankyrin repeat domain containing"	18412	protein-coding gene	gene with protein product		607799				9700202, 18794299	Standard	NM_015336		Approved	HIP14, HYPH, KIAA0946	uc001syk.1	Q8IUH5	OTTHUMG00000169917	ENST00000426126.2:c.852A>G	12.37:g.77216266A>G			B4DR39|O75407|Q7Z2I0|Q86W89|Q86YK0|Q9P088|Q9UPZ8	Silent	SNP	ENST00000426126.2	37	CCDS44946.1																																																																																				0.368	ZDHHC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406555.1	NM_015336		G	77216266	A	G	77216266	2	3	751	1	0	0	0	0	0	0	0	1	17612	69	3	3		3	ZDHHC17	12	77216266	Silent	SNP	A	TCGA-KO-8410-01A-11D-2310-10	55973411	77216266	56635629	46	44232											
TDG	6996	mdanderson.org	37	12	104376608	104376608	+	Silent	SNP	G	G	A	rs61937629	byFrequency	TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr12:104376608G>A	ENST00000392872.3	+	5	744	c.510G>A	c.(508-510)gaG>gaA	p.E170E	TDG_ENST00000266775.9_Silent_p.E166E|TDG_ENST00000542036.1_5'UTR|AC078819.1_ENST00000401157.1_RNA|TDG_ENST00000544861.1_Silent_p.E27E	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	170					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)	p.E170E(1)		large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		GGCTCAGTGAGGTCCAGCTGA	0.443								Base excision repair (BER), DNA glycosylases																																								1	Substitution - coding silent(1)	stomach(1)											124	116	118					12																	104376608		2203	4300	6503	SO:0001819	synonymous_variant	6996			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.510G>A	12.37:g.104376608G>A			Q8IUZ6|Q8IZM3	Silent	SNP	ENST00000392872.3	37	CCDS9095.1																																																																																				0.443	TDG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399673.2			A	104376608	G	A	104376608	2	1	751	1	0	0	0	0	0	0	0	1	15730	991	35	2		2	TDG	12	104376608	Silent	SNP	G	TCGA-KO-8410-01A-11D-2310-10	27160342	104376608	29475287	47	44233											
MCF2L	23263	ucsc.edu;bcgsc.ca	37	13	113750740	113750740	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr13:113750740T>C	ENST00000375608.3	+	29	3279	c.3221T>C	c.(3220-3222)cTg>cCg	p.L1074P	MCF2L_ENST00000535094.2_Missense_Mutation_p.L1044P|MCF2L_ENST00000434480.2_Missense_Mutation_p.L1050P|MCF2L_ENST00000397030.1_Missense_Mutation_p.L1077P|MCF2L_ENST00000423482.2_Missense_Mutation_p.L1042P|MCF2L_ENST00000442652.2_Missense_Mutation_p.L1074P|MCF2L_ENST00000375601.3_Missense_Mutation_p.L1048P|MCF2L_ENST00000375604.2_Missense_Mutation_p.L1101P|MCF2L_ENST00000421756.1_Missense_Mutation_p.L1048P			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	1074	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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)				CCCGATGCGCTGCGCGTGAGG	0.706																																																0													22	33	30					13																	113750740		1558	3575	5133	SO:0001583	missense	23263			AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.3221T>C	13.37:g.113750740T>C	ENSP00000364758:p.Leu1074Pro		A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Missense_Mutation	SNP	ENST00000375608.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.63|18.63	3.664825|3.664825	0.67700|0.67700	.|.	.|.	ENSG00000126217|ENSG00000126217	ENST00000261963;ENST00000420013|ENST00000375608;ENST00000442652;ENST00000375604;ENST00000397030;ENST00000535094;ENST00000421756;ENST00000375601;ENST00000434480;ENST00000423482;ENST00000440749	.|T;T;T;T;T;T;T;T;T	.|0.50277	.|1.88;1.88;1.88;0.75;1.88;0.75;1.88;1.88;1.88	5.14|5.14	3.97|3.97	0.46021|0.46021	.|Src homology-3 domain (3);Variant SH3 (1);	.|0.234273	.|0.36134	.|N	.|0.002773	T|T	0.74145|0.74145	0.3678|0.3678	H|H	0.94462|0.94462	3.54|3.54	0.44123|0.44123	D|D	0.996903|0.996903	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.80764	.|0.99;0.99;0.99;0.994	T|T	0.78132|0.78132	-0.2323|-0.2323	5|10	.|0.87932	.|D	.|0	.|.	9.842|9.842	0.41004|0.41004	0.0:0.0811:0.0:0.9189|0.0:0.0811:0.0:0.9189	.|.	.|1042;1044;1101;1074	.|E9PDN8;O15068-9;G5E9A1;O15068	.|.;.;.;MCF2L_HUMAN	R|P	215;116|1074;1074;1101;1077;1044;1048;1048;1050;1042;885	.|ENSP00000364758:L1074P;ENSP00000401422:L1074P;ENSP00000364754:L1101P;ENSP00000380225:L1077P;ENSP00000440374:L1044P;ENSP00000397285:L1048P;ENSP00000364751:L1048P;ENSP00000407722:L1050P;ENSP00000405639:L1042P	.|ENSP00000364751:L1048P	C|L	+|+	1|2	0|0	MCF2L|MCF2L	112798741|112798741	1.000000|1.000000	0.71417|0.71417	0.002000|0.002000	0.10522|0.10522	0.005000|0.005000	0.04900|0.04900	5.360000|5.360000	0.66086|0.66086	0.808000|0.808000	0.34231|0.34231	0.460000|0.460000	0.39030|0.39030	TGC|CTG		0.706	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4			C	113750740	T	C	113750740	3	2	751	1	0	0	0	0	1	0	0	0	9381	1580	55	3	3507	3	MCF2L	13	113750740	Missense_Mutation	SNP	T	TCGA-KO-8410-01A-11D-2310-10		113750740	1419138	48	44234											
C14orf101	54916	bcgsc.ca	37	14	57082681	57082681	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr14:57082681A>G	ENST00000261556.6	+	8	999	c.877A>G	c.(877-879)Agg>Ggg	p.R293G	TMEM260_ENST00000538838.1_Missense_Mutation_p.R293G|TMEM260_ENST00000536419.1_5'UTR|TMEM260_ENST00000553335.1_3'UTR	NM_017799.3	NP_060269.3	Q9NX78	TM260_HUMAN	transmembrane protein 260	293						integral component of membrane (GO:0016021)											AACAAATATGAGGACCGAACT	0.313																																																0													131	135	134					14																	57082681		2203	4299	6502	SO:0001583	missense	0			AK000399	CCDS9727.2	14q22.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000070269	ENSG00000070269			20185	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 101"	C14orf101			Standard	XR_245695		Approved	FLJ20392	uc001xcm.3	Q9NX78	OTTHUMG00000152337	ENST00000261556.6:c.877A>G	14.37:g.57082681A>G	ENSP00000261556:p.Arg293Gly		A8KAN4|B3KPF5|Q86XE1	Missense_Mutation	SNP	ENST00000261556.6	37	CCDS9727.2	.	.	.	.	.	.	.	.	.	.	A	9.038	0.989011	0.18966	.	.	ENSG00000070269	ENST00000261556;ENST00000538838	T;T	0.42900	1.55;0.96	5.89	5.89	0.94794	.	0.493681	0.24808	N	0.035431	T	0.35393	0.0930	L	0.44542	1.39	0.80722	D	1	B	0.21520	0.057	B	0.14023	0.01	T	0.11567	-1.0582	10	0.22109	T	0.4	-9.7491	13.8303	0.63377	1.0:0.0:0.0:0.0	.	293	Q9NX78	CN101_HUMAN	G	293	ENSP00000261556:R293G;ENSP00000441934:R293G	ENSP00000261556:R293G	R	+	1	2	C14orf101	56152434	1.000000	0.71417	0.998000	0.56505	0.345000	0.29048	4.855000	0.62925	2.250000	0.74265	0.477000	0.44152	AGG		0.313	TMEM260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276924.1	NM_017799		G	57082681	A	G	57082681	3	3	751	1	0	0	0	0	1	0	0	0	1736	295	11	3	907	3	C14orf101	14	57082681	Missense_Mutation	SNP	A	TCGA-KO-8410-01A-11D-2310-10		57082681	50266859	49	44235											
LTBP2	4053	ucsc.edu	37	14	74995365	74995365	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr14:74995365T>C	ENST00000261978.4	-	12	2575	c.2189A>G	c.(2188-2190)tAc>tGc	p.Y730C	LTBP2_ENST00000556690.1_Missense_Mutation_p.Y730C	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	730					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)		CGCGTAGGTGTAGCCGTGGCC	0.627																																																0													39	39	39					14																	74995365		2203	4299	6502	SO:0001583	missense	4053				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.2189A>G	14.37:g.74995365T>C	ENSP00000261978:p.Tyr730Cys		Q99907|Q9NS51	Missense_Mutation	SNP	ENST00000261978.4	37	CCDS9831.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.429018	0.83667	.	.	ENSG00000119681	ENST00000261978;ENST00000556690	D;D	0.91180	-2.8;-2.8	5.54	5.54	0.83059	Matrix fibril-associated (2);	0.000000	0.38164	N	0.001785	D	0.92028	0.7474	L	0.34521	1.04	0.47659	D	0.999489	D	0.89917	1.0	D	0.87578	0.998	D	0.92040	0.5640	10	0.49607	T	0.09	.	13.3018	0.60330	0.0:0.0:0.0:1.0	.	730	Q14767	LTBP2_HUMAN	C	730	ENSP00000261978:Y730C;ENSP00000451477:Y730C	ENSP00000261978:Y730C	Y	-	2	0	LTBP2	74065118	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	6.853000	0.75435	2.326000	0.78906	0.533000	0.62120	TAC		0.627	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		C	74995365	T	C	74995365	3	2	751	1	0	0	0	0	1	0	0	0	9076	1638	57	3	3376	3	LTBP2	14	74995365	Missense_Mutation	SNP	T	TCGA-KO-8410-01A-11D-2310-10	17912684	74995365	32354175	50	44236											
AHNAK2	113146	mdanderson.org	37	14	105412347	105412347	+	Silent	SNP	C	C	T	rs55842266	byFrequency	TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr14:105412347C>T	ENST00000333244.5	-	7	9560	c.9441G>A	c.(9439-9441)aaG>aaA	p.K3147K	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3147						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)			GCATCTTGAACTTGGGCATTT	0.602													.|||	305	0.0609026	0.0106	0.0778	5008	,	,		16789	0.0109		0.1491	False		,,,				2504	0.0777															0													199	143	161					14																	105412347		1924	4066	5990	SO:0001819	synonymous_variant	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.9441G>A	14.37:g.105412347C>T			Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																				0.602	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		T	105412347	C	T	105412347	2	4	751	1	0	0	0	0	0	0	0	1	415	564	20	2		2	AHNAK2	14	105412347	Silent	SNP	C	TCGA-KO-8410-01A-11D-2310-10	30416982	105412347	1937193	51	44237											
ATP10A	57194	bcgsc.ca	37	15	25928591	25928591	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr15:25928591A>G	ENST00000356865.6	-	17	3445	c.3334T>C	c.(3334-3336)Ttc>Ctc	p.F1112L		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1112					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)		GATGCAGAGAAGCCACAGAAA	0.488																																																0													77	75	76					15																	25928591		2203	4300	6503	SO:0001583	missense	57194			AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"ATPases / P-type"	13542	protein-coding gene	gene with protein product		605855	"ATPase, Class V, type 10C", "ATPase, Class V, type 10A"	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.3334T>C	15.37:g.25928591A>G	ENSP00000349325:p.Phe1112Leu		Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	A	33	5.246143	0.95272	.	.	ENSG00000206190	ENST00000356865	T	0.72394	-0.65	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	D	0.87900	0.6294	H	0.95004	3.61	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.91319	0.5080	10	0.87932	D	0	-32.2913	14.3699	0.66833	1.0:0.0:0.0:0.0	.	1112	O60312	AT10A_HUMAN	L	1112	ENSP00000349325:F1112L	ENSP00000349325:F1112L	F	-	1	0	ATP10A	23479684	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.963000	0.93385	1.790000	0.52503	0.533000	0.62120	TTC		0.488	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		G	25928591	A	G	25928591	3	3	751	1	0	0	0	0	1	0	0	0	1116	72	3	3	1185	3	ATP10A	15	25928591	Missense_Mutation	SNP	A	TCGA-KO-8410-01A-11D-2310-10		25928591	76602801	52	44238											
GOLGA8B	440270	ucsc.edu	37	15	34819940	34819940	+	Missense_Mutation	SNP	G	G	C	rs2615360	byFrequency	TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr15:34819940G>C	ENST00000342314.5	-	16	1802	c.1705C>G	c.(1705-1707)Ctg>Gtg	p.L569V	MIR1233-2_ENST00000408138.1_RNA|GOLGA8B_ENST00000267731.7_Missense_Mutation_p.L569V|GOLGA8A_ENST00000543376.1_Intron|GOLGA8B_ENST00000438958.2_Missense_Mutation_p.L599V	NM_001023567.4	NP_001018861.3	A8MQT2	GOG8B_HUMAN	golgin A8 family, member B	569	Golgi-targeting domain.			L -> V (in Ref. 1; AAF40308 and 2; AAF34136). {ECO:0000305}.		Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(1)	1		all_lung(180;2.78e-08)		all cancers(64;8.27e-19)|GBM - Glioblastoma multiforme(113;6.98e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		AGGAGCTGCAGGACTGGCTGT	0.592													c|||	687	0.137181	0.2027	0.1902	5008	,	,		7607	0.0734		0.1143	False		,,,				2504	0.1002															0													36	45	42					15																	34819940		1316	3386	4702	SO:0001583	missense	440270			AF164622	CCDS45211.1	15q14	2011-10-25	2010-02-12		ENSG00000215252	ENSG00000215252			31973	protein-coding gene	gene with protein product		609619	"golgi autoantigen, golgin subfamily a, 8B"				Standard	NM_001023567		Approved		uc001ziq.3	A8MQT2	OTTHUMG00000129549	ENST00000342314.5:c.1705C>G	15.37:g.34819940G>C	ENSP00000343064:p.Leu569Val		A6NLZ2|O94937|Q2M3S9|Q9NZG8|Q9NZW0|Q9NZW3	Missense_Mutation	SNP	ENST00000342314.5	37	CCDS45211.1	236	0.10805860805860806	65	0.13211382113821138	36	0.09944751381215469	59	0.10314685314685315	76	0.10026385224274406	N	0.004	-2.348606	0.00219	.	.	ENSG00000215252	ENST00000342314;ENST00000267731;ENST00000438958;ENST00000268079	T;T;T	0.24538	1.85;1.85;1.85	1.48	-1.31	0.09230	.	.	.	.	.	T	0.00073	0.0002	N	0.01515	-0.825	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.25847	-1.0120	8	0.02654	T	1	.	3.4826	0.07607	0.0:0.1792:0.225:0.5958	.	425;569	B7ZMK6;A8MQT2	.;GOG8B_HUMAN	V	569;569;599;460	ENSP00000343064:L569V;ENSP00000267731:L569V;ENSP00000400063:L599V	ENSP00000267731:L569V	L	-	1	2	GOLGA8B	32607232	1.000000	0.71417	0.029000	0.17559	0.001000	0.01503	1.699000	0.37804	-0.989000	0.03485	-3.440000	0.00036	CTG		0.592	GOLGA8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251739.2	NM_001023567		C	34819940	G	C	34819940	3	2	751	1	0	0	0	0	1	0	0	0	6566	991	35	4	110	4	GOLGA8B	15	34819940	Missense_Mutation	SNP	G	TCGA-KO-8410-01A-11D-2310-10	8891349	34819940	67711452	53	44239											
GOLGA6D	653643	mdanderson.org	37	15	75586737	75586737	+	Missense_Mutation	SNP	T	T	C	rs200428716		TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr15:75586737T>C	ENST00000434739.3	+	18	2044	c.2003T>C	c.(2002-2004)gTg>gCg	p.V668A	RN7SL327P_ENST00000488659.2_RNA	NM_001145224.1	NP_001138696.1	P0CG33	GOG6D_HUMAN	golgin A6 family, member D	668						Golgi apparatus (GO:0005794)				kidney(1)|lung(1)	2						GCACCAGGAGTGGCCAGGGAG	0.607																																																0													41	50	47					15																	75586737		642	1582	2224	SO:0001583	missense	653643				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.2003T>C	15.37:g.75586737T>C	ENSP00000391085:p.Val668Ala			Missense_Mutation	SNP	ENST00000434739.3	37	CCDS45308.1	24	0.01098901098901099	9	0.018292682926829267	7	0.019337016574585635	7	0.012237762237762238	1	0.0013192612137203166	C	2.514	-0.312259	0.05422	.	.	ENSG00000140478	ENST00000434739	T	0.20881	2.04	1.38	-2.75	0.05914	.	.	.	.	.	T	0.03827	0.0108	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22591	-1.0212	9	0.23302	T	0.38	.	1.0217	0.01519	0.2442:0.4003:0.1596:0.1958	.	668	P0CG33	GOG6D_HUMAN	A	668	ENSP00000391085:V668A	ENSP00000391085:V668A	V	+	2	0	GOLGA6D	73373790	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.128000	0.03247	-2.830000	0.00339	-3.450000	0.00036	GTG		0.607	GOLGA6D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419798.1	NM_001145224		C	75586737	T	C	75586737	3	2	751	1	0	0	0	0	1	0	0	0	6562	1696	59	3	2073	3	GOLGA6D	15	75586737	Missense_Mutation	SNP	T	TCGA-KO-8410-01A-11D-2310-10	40766797	75586737	26944655	54	44240											
ADAMTS7	11173	mdanderson.org	37	15	79058378	79058378	+	Missense_Mutation	SNP	A	A	G	rs201462332		TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr15:79058378A>G	ENST00000388820.4	-	19	4085	c.3875T>C	c.(3874-3876)cTc>cCc	p.L1292P	ADAMTS7_ENST00000566303.1_5'Flank	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1292					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						AGGAGGAAGGAGAGAAGCCAC	0.647																																																0													16	17	17					15																	79058378		2120	4172	6292	SO:0001583	missense	11173			AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"ADAM metallopeptidases with thrombospondin type 1 motif"	223	protein-coding gene	gene with protein product	"COMPase", "a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"	605009	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.3875T>C	15.37:g.79058378A>G	ENSP00000373472:p.Leu1292Pro		Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	a	2.158	-0.392791	0.04899	.	.	ENSG00000136378	ENST00000388820	T	0.59224	0.28	3.75	-1.46	0.08800	.	0.736535	0.11836	N	0.524771	T	0.26376	0.0644	N	0.02916	-0.46	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19976	-1.0289	10	0.17832	T	0.49	.	7.6255	0.28210	0.4543:0.0:0.5457:0.0	.	1292	Q9UKP4	ATS7_HUMAN	P	1292	ENSP00000373472:L1292P	ENSP00000373472:L1292P	L	-	2	0	ADAMTS7	76845433	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.278000	0.08490	-0.638000	0.05509	-1.242000	0.01536	CTC		0.647	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		G	79058378	A	G	79058378	3	3	751	1	0	0	0	0	1	0	0	0	271	304	11	3	1209	3	ADAMTS7	15	79058378	Missense_Mutation	SNP	A	TCGA-KO-8410-01A-11D-2310-10	3471641	79058378	23473014	55	44241											
RHOT2	89941	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	16	721884	721884	+	Missense_Mutation	SNP	G	G	T	rs367726747		TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr16:721884G>T	ENST00000315082.4	+	13	1093	c.979G>T	c.(979-981)Gtg>Ttg	p.V327L		NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	327	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				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)|extracellular vesicular exosome (GO:0070062)|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)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				CCTCTCGCCCGTGGAGCTGCA	0.711																																																0													51	64	60					16																	721884		2199	4296	6495	SO:0001583	missense	89941			BC014942	CCDS10417.1	16p13.3	2013-01-10	2012-02-27	2004-03-24	ENSG00000140983	ENSG00000140983		"EF-hand domain containing"	21169	protein-coding gene	gene with protein product	"mitochondrial Rho (MIRO) GTPase 2"	613889	"chromosome 16 open reading frame 39", "ras homolog gene family, member T2"	C16orf39, ARHT2		12482879	Standard	NM_138769		Approved	MIRO-2	uc002cip.3	Q8IXI1	OTTHUMG00000121139	ENST00000315082.4:c.979G>T	16.37:g.721884G>T	ENSP00000321971:p.Val327Leu		A2IDC2|Q8NF53|Q96C13|Q96S17|Q9BT60|Q9H7M8	Missense_Mutation	SNP	ENST00000315082.4	37	CCDS10417.1	.	.	.	.	.	.	.	.	.	.	G	11.44	1.638715	0.29157	.	.	ENSG00000140983	ENST00000315082	T	0.09163	3.01	5.44	-4.54	0.03452	EF-hand-like domain (1);	1.491620	0.03357	N	0.197119	T	0.06234	0.0161	N	0.17474	0.49	0.09310	N	1	B	0.24721	0.11	B	0.24155	0.051	T	0.35649	-0.9780	10	0.30078	T	0.28	-10.8831	5.2347	0.15441	0.2999:0.0:0.3028:0.3973	.	327	Q8IXI1	MIRO2_HUMAN	L	327	ENSP00000321971:V327L	ENSP00000321971:V327L	V	+	1	0	RHOT2	661885	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-1.054000	0.03496	-0.571000	0.06014	-1.423000	0.01107	GTG		0.711	RHOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241617.1	NM_138769		T	721884	G	T	721884	3	4	751	1	0	0	0	0	1	0	0	0	13350	1145	40	4	1029	4	RHOT2	16	721884	Missense_Mutation	SNP	G	TCGA-KO-8410-01A-11D-2310-10		721884	89632869	56	44242											
TPSB2	64499	mdanderson.org	37	16	1279704	1279704	+	RNA	SNP	A	A	G	rs202107419	byFrequency	TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr16:1279704A>G	ENST00000339687.6	-	0	118				TPSB2_ENST00000445910.1_RNA|TPSB2_ENST00000430512.2_RNA			P20231	TRYB2_HUMAN	tryptase beta 2 (gene/pseudogene)							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			lung(1)|upper_aerodigestive_tract(1)	2		Hepatocellular(780;0.00369)				CCTGACCCCCAACGATGCCCA	0.697																																																0													30	38	35					16																	1279704		2182	4298	6480			64499			AF099143		16p13.3	2009-11-20	2009-11-18		ENSG00000197253	ENSG00000197253			14120	protein-coding gene	gene with protein product	"tryptase beta II", "tryptase beta III"	191081	"tryptase beta 2"			19748655	Standard	NM_024164		Approved		uc002cky.3	P20231	OTTHUMG00000155926		16.37:g.1279704A>G			D2E6S0|D2E6S2|O95827|Q15664|Q9UQI6|Q9UQI7	Silent	SNP	ENST00000339687.6	37																																																																																					0.697	TPSB2-002	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000342364.1	NM_024164		G	1279704	A	G	1279704	1	3	751	0	1	0	0	0	0	0	0	0	16429	117	5	3		3	TPSB2	16	1279704	RNA	SNP	A	TCGA-KO-8410-01A-11D-2310-10	557820	1279704	89075049	57	44243	452	4									
TPSB2	64499	mdanderson.org	37	16	1279710	1279710	+	RNA	SNP	G	G	A	rs200630968	byFrequency	TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr16:1279710G>A	ENST00000339687.6	-	0	112				TPSB2_ENST00000445910.1_RNA|TPSB2_ENST00000430512.2_RNA			P20231	TRYB2_HUMAN	tryptase beta 2 (gene/pseudogene)							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			lung(1)|upper_aerodigestive_tract(1)	2		Hepatocellular(780;0.00369)				CCCCAACGATGCCCACTCGCT	0.706																																																0													27	34	32					16																	1279710		2182	4297	6479			64499			AF099143		16p13.3	2009-11-20	2009-11-18		ENSG00000197253	ENSG00000197253			14120	protein-coding gene	gene with protein product	"tryptase beta II", "tryptase beta III"	191081	"tryptase beta 2"			19748655	Standard	NM_024164		Approved		uc002cky.3	P20231	OTTHUMG00000155926		16.37:g.1279710G>A			D2E6S0|D2E6S2|O95827|Q15664|Q9UQI6|Q9UQI7	Silent	SNP	ENST00000339687.6	37																																																																																					0.706	TPSB2-002	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000342364.1	NM_024164		A	1279710	G	A	1279710	1	1	751	0	1	0	0	0	0	0	0	0	16429	1306	46	2		2	TPSB2	16	1279710	RNA	SNP	G	TCGA-KO-8410-01A-11D-2310-10	6	1279710	89075043	58	44244	452	4									
TPSB2	64499	mdanderson.org	37	16	1279714	1279714	+	RNA	SNP	A	A	G	rs192643610	byFrequency	TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr16:1279714A>G	ENST00000339687.6	-	0	108				TPSB2_ENST00000445910.1_RNA|TPSB2_ENST00000430512.2_RNA			P20231	TRYB2_HUMAN	tryptase beta 2 (gene/pseudogene)							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			lung(1)|upper_aerodigestive_tract(1)	2		Hepatocellular(780;0.00369)				AACGATGCCCACTCGCTGCAG	0.711																																																0													25	32	29					16																	1279714		2180	4295	6475			64499			AF099143		16p13.3	2009-11-20	2009-11-18		ENSG00000197253	ENSG00000197253			14120	protein-coding gene	gene with protein product	"tryptase beta II", "tryptase beta III"	191081	"tryptase beta 2"			19748655	Standard	NM_024164		Approved		uc002cky.3	P20231	OTTHUMG00000155926		16.37:g.1279714A>G			D2E6S0|D2E6S2|O95827|Q15664|Q9UQI6|Q9UQI7	Missense_Mutation	SNP	ENST00000339687.6	37		171	0.0782967032967033	39	0.07926829268292683	28	0.07734806629834254	44	0.07692307692307693	60	0.079155672823219	a	8.603	0.887339	0.17540	.	.	ENSG00000197253	ENST00000430512	T	0.81078	-1.45	4.02	-8.04	0.01110	.	1.382050	0.04868	N	0.445430	T	0.05090	0.0136	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.32375	-0.9909	9	0.07644	T	0.81	.	3.7543	0.08579	0.5801:0.1008:0.1165:0.2027	.	29	P20231	TRYB2_HUMAN	A	29	ENSP00000412409:V29A	ENSP00000412409:V29A	V	-	2	0	TPSB2	1219715	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.520000	0.00221	-2.364000	0.00607	-1.306000	0.01317	GTG		0.711	TPSB2-002	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000342364.1	NM_024164		G	1279714	A	G	1279714	1	3	751	0	1	0	0	0	0	0	0	0	16429	159	6	3		3	TPSB2	16	1279714	RNA	SNP	A	TCGA-KO-8410-01A-11D-2310-10	4	1279714	89075039	59	44245	452	4									
TPSB2	64499	mdanderson.org	37	16	1279717	1279717	+	RNA	SNP	C	C	T	rs201728868	byFrequency	TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr16:1279717C>T	ENST00000339687.6	-	0	105				TPSB2_ENST00000445910.1_RNA|TPSB2_ENST00000430512.2_RNA			P20231	TRYB2_HUMAN	tryptase beta 2 (gene/pseudogene)							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			lung(1)|upper_aerodigestive_tract(1)	2		Hepatocellular(780;0.00369)				GATGCCCACTCGCTGCAGGGC	0.711																																																0													23	30	28					16																	1279717		2181	4295	6476			64499			AF099143		16p13.3	2009-11-20	2009-11-18		ENSG00000197253	ENSG00000197253			14120	protein-coding gene	gene with protein product	"tryptase beta II", "tryptase beta III"	191081	"tryptase beta 2"			19748655	Standard	NM_024164		Approved		uc002cky.3	P20231	OTTHUMG00000155926		16.37:g.1279717C>T			D2E6S0|D2E6S2|O95827|Q15664|Q9UQI6|Q9UQI7	Missense_Mutation	SNP	ENST00000339687.6	37		.	.	.	.	.	.	.	.	.	.	C	9.729	1.161875	0.21538	.	.	ENSG00000197253	ENST00000430512	T	0.81078	-1.45	4.02	0.801	0.18679	.	0.365821	0.20030	N	0.100730	T	0.56920	0.2018	.	.	.	0.09310	N	1	B	0.25351	0.124	B	0.17722	0.019	T	0.35051	-0.9804	9	0.13108	T	0.6	.	3.9752	0.09472	0.1906:0.5843:0.0:0.225	.	28	P20231	TRYB2_HUMAN	Q	28	ENSP00000412409:R28Q	ENSP00000412409:R28Q	R	-	2	0	TPSB2	1219718	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.308000	0.08156	0.286000	0.22352	0.462000	0.41574	CGA		0.711	TPSB2-002	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000342364.1	NM_024164		T	1279717	C	T	1279717	1	4	751	0	1	0	0	0	0	0	0	0	16429	884	31	1		1	TPSB2	16	1279717	RNA	SNP	C	TCGA-KO-8410-01A-11D-2310-10	3	1279717	89075036	60	44246	452	4									
ZNF668	79759	ucsc.edu	37	16	31072996	31072996	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr16:31072996T>C	ENST00000538906.1	-	3	2037	c.1253A>G	c.(1252-1254)gAg>gGg	p.E418G	ZNF668_ENST00000535577.1_Missense_Mutation_p.E418G|ZNF668_ENST00000426488.2_Missense_Mutation_p.E441G|ZNF668_ENST00000564456.1_5'Flank|ZNF668_ENST00000300849.4_Missense_Mutation_p.E418G|ZNF668_ENST00000539836.3_Missense_Mutation_p.E441G|ZNF668_ENST00000394983.2_Missense_Mutation_p.E418G|ZNF668_ENST00000417110.2_Missense_Mutation_p.S62P	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	418					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						ACCCGCGGCCTCACTGCTTCG	0.682																																					Colon(181;1111 1980 5060 10512 25785)											0													64	71	68					16																	31072996		2197	4300	6497	SO:0001583	missense	79759				CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394		"Zinc fingers, C2H2-type"	25821	protein-coding gene	gene with protein product						12477932	Standard	NM_024706		Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.1253A>G	16.37:g.31072996T>C	ENSP00000440149:p.Glu418Gly		C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Missense_Mutation	SNP	ENST00000538906.1	37	CCDS10701.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.15|13.15	2.150724|2.150724	0.37923|0.37923	.|.	.|.	ENSG00000167394|ENSG00000232748	ENST00000539836;ENST00000535577;ENST00000538906;ENST00000394983;ENST00000300849|ENST00000417110	T;T;T;T;T|.	0.08282|.	3.11;3.11;3.11;3.11;3.11|.	4.84|4.84	4.84|4.84	0.62591|0.62591	Zinc finger, C2H2 (1);|.	0.349788|.	0.28465|.	N|.	0.015244|.	T|T	0.39860|0.39860	0.1094|0.1094	N|N	0.08118|0.08118	0|0	0.39968|0.39968	D|D	0.974752|0.974752	B|.	0.29716|.	0.255|.	B|.	0.23852|.	0.049|.	T|T	0.50508|0.50508	-0.8820|-0.8820	10|6	0.72032|0.87932	D|D	0.01|0	-28.8773|-28.8773	10.7371|10.7371	0.46130|0.46130	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	418|.	Q96K58|.	ZN668_HUMAN|.	G|P	441;418;418;418;418|62	ENSP00000442573:E441G;ENSP00000441349:E418G;ENSP00000440149:E418G;ENSP00000378434:E418G;ENSP00000300849:E418G|.	ENSP00000300849:E418G|ENSP00000391989:S62P	E|S	-|+	2|1	0|0	ZNF668|AC135050.1	30980497|30980497	0.003000|0.003000	0.15002|0.15002	1.000000|1.000000	0.80357|0.80357	0.698000|0.698000	0.40448|0.40448	-1.098000|-1.098000	0.03346|0.03346	2.048000|2.048000	0.60808|0.60808	0.379000|0.379000	0.24179|0.24179	GAG|TCA		0.682	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108516.2	NM_024706		C	31072996	T	C	31072996	3	2	751	1	0	0	0	0	1	0	0	0	18080	1551	54	3	610	3	ZNF668	16	31072996	Missense_Mutation	SNP	T	TCGA-KO-8410-01A-11D-2310-10	29793279	31072996	59281757	61	44247											
COPS3	8533	ucsc.edu	37	17	17184462	17184462	+	Silent	SNP	T	T	C			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr17:17184462T>C	ENST00000268717.5	-	1	145	c.39A>G	c.(37-39)cgA>cgG	p.R13R	COPS3_ENST00000539941.2_5'Flank|COPS3_ENST00000439936.2_5'Flank	NM_003653.3	NP_003644.2	Q9UNS2	CSN3_HUMAN	COP9 signalosome subunit 3	13					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)				NS(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						CTGAGAGCTGTCGGACACTGT	0.692																																																0													38	36	37					17																	17184462		2201	4299	6500	SO:0001819	synonymous_variant	8533			AF031647	CCDS11183.1, CCDS56022.1	17p11.2	2013-03-14	2013-03-14		ENSG00000141030	ENSG00000141030			2239	protein-coding gene	gene with protein product		604665	"COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 3", "COP9 constitutive photomorphogenic homolog subunit 3 (Arabidopsis)"			9535219, 10191102	Standard	NM_003653		Approved	SGN3, CSN3	uc002grd.3	Q9UNS2	OTTHUMG00000059281	ENST00000268717.5:c.39A>G	17.37:g.17184462T>C			B2R683|B4DY81|O43191|Q7LDR6	Silent	SNP	ENST00000268717.5	37	CCDS11183.1																																																																																				0.692	COPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131603.2			C	17184462	T	C	17184462	2	2	751	1	0	0	0	0	0	0	0	1	3736	1654	58	3		3	COPS3	17	17184462	Silent	SNP	T	TCGA-KO-8410-01A-11D-2310-10		17184462	64010748	62	44248											
MUC16	94025	mdanderson.org	37	19	8999414	8999414	+	Silent	SNP	G	G	A			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr19:8999414G>A	ENST00000397910.4	-	56	40964	c.40761C>T	c.(40759-40761)gaC>gaT	p.D13587D	MUC16_ENST00000380951.5_Silent_p.D228D	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13589	SEA 10. {ECO:0000255|PROSITE- ProRule:PRU00188}.			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						GACTGTCCCTGTCCAGGGTGT	0.577																																																0													246	205	218					19																	8999414		2073	4216	6289	SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.40761C>T	19.37:g.8999414G>A			Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	2.942	-0.218576	0.06101	.	.	ENSG00000181143	ENST00000542240	.	.	.	3.48	2.44	0.29823	.	.	.	.	.	T	0.39200	0.1069	.	.	.	.	.	.	.	.	.	.	.	.	T	0.45056	-0.9287	3	.	.	.	.	6.0455	0.19758	0.1431:0.0:0.8569:0.0	.	.	.	.	I	427	.	.	T	-	2	0	MUC16	8860414	0.000000	0.05858	0.844000	0.33320	0.437000	0.31866	-0.585000	0.05794	1.967000	0.57214	0.555000	0.69702	ACA		0.577	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	8999414	G	A	8999414	2	1	751	1	0	0	0	0	0	0	0	1	9975	1368	48	2		2	MUC16	19	8999414	Silent	SNP	G	TCGA-KO-8410-01A-11D-2310-10		8999414	50129569	63	44249											
ZNF575	284346	ucsc.edu	37	19	44039421	44039421	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr19:44039421C>T	ENST00000314228.5	+	4	832	c.320C>T	c.(319-321)gCa>gTa	p.A107V	ZNF575_ENST00000601282.1_Missense_Mutation_p.A107V|ZNF575_ENST00000458714.2_Missense_Mutation_p.A206V	NM_174945.2	NP_777605.1	Q86XF7	ZN575_HUMAN	zinc finger protein 575	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)			large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	4		Prostate(69;0.0199)				TCCAAGCTGGCAGCCCACCGC	0.706																																																0													32	29	30					19																	44039421		2203	4298	6501	SO:0001583	missense	284346			BC043611	CCDS12623.1	19q13.31	2013-09-20			ENSG00000176472	ENSG00000176472		"Zinc fingers, C2H2-type"	27606	protein-coding gene	gene with protein product							Standard	NM_174945		Approved	FLJ32567	uc002ows.3	Q86XF7	OTTHUMG00000182698	ENST00000314228.5:c.320C>T	19.37:g.44039421C>T	ENSP00000315870:p.Ala107Val		B4DX54	Missense_Mutation	SNP	ENST00000314228.5	37	CCDS12623.1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.204548	0.58234	.	.	ENSG00000176472	ENST00000458714;ENST00000314228	T;T	0.16897	2.31;2.31	4.28	4.28	0.50868	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.43747	D	0.000534	T	0.18215	0.0437	N	0.16066	0.365	0.20074	N	0.999934	P;D	0.57257	0.901;0.979	P;P	0.58391	0.702;0.838	T	0.07462	-1.0771	10	0.33141	T	0.24	-9.5726	10.7008	0.45926	0.0:0.8056:0.1944:0.0	.	107;206	Q86XF7;B3KQ07	ZN575_HUMAN;.	V	206;107	ENSP00000413956:A206V;ENSP00000315870:A107V	ENSP00000315870:A107V	A	+	2	0	ZNF575	48731261	0.000000	0.05858	0.997000	0.53966	0.991000	0.79684	-0.915000	0.04033	2.119000	0.64992	0.650000	0.86243	GCA		0.706	ZNF575-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463191.1	NM_174945		T	44039421	C	T	44039421	3	4	751	1	0	0	0	0	1	0	0	0	18012	710	25	2	326	2	ZNF575	19	44039421	Missense_Mutation	SNP	C	TCGA-KO-8410-01A-11D-2310-10	35040007	44039421	15089562	64	44250											
ZNF224	7767	broad.mit.edu	37	19	44611929	44611929	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr19:44611929C>T	ENST00000336976.6	+	6	1870	c.1616C>T	c.(1615-1617)cCa>cTa	p.P539L	AC084219.4_ENST00000592946.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	539					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nuclear membrane (GO:0031965)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				GGAGAGAGACCATACAATTGT	0.428																																																0													104	98	100					19																	44611929		2203	4300	6503	SO:0001583	missense	7767			AF187990	CCDS33046.1	19q13.2	2013-01-08	2004-02-13			ENSG00000267680		"Zinc fingers, C2H2-type", "-"	13017	protein-coding gene	gene with protein product		194555	"zinc finger protein 255", "zinc finger protein 27"	ZNF255, ZNF27			Standard	NM_013398		Approved	BMZF-2, KOX22	uc002oyh.2	Q9NZL3		ENST00000336976.6:c.1616C>T	19.37:g.44611929C>T	ENSP00000337368:p.Pro539Leu		A6NFW9|P17033|Q86V10|Q8IZC8|Q9UID9|Q9Y2P6	Missense_Mutation	SNP	ENST00000336976.6	37	CCDS33046.1	.	.	.	.	.	.	.	.	.	.	c	16.08	3.021545	0.54576	.	.	ENSG00000186019	ENST00000336976	T	0.27557	1.66	2.69	2.69	0.31865	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35537	0.0935	M	0.73372	2.23	0.24003	N	0.996201	P	0.40302	0.712	B	0.39562	0.303	T	0.31052	-0.9957	9	0.87932	D	0	.	12.522	0.56065	0.0:1.0:0.0:0.0	.	539	Q9NZL3	ZN224_HUMAN	L	539	ENSP00000337368:P539L	ENSP00000337368:P539L	P	+	2	0	ZNF224	49303769	0.011000	0.17503	0.121000	0.21740	0.329000	0.28539	1.539000	0.36104	1.496000	0.48567	0.591000	0.81541	CCA		0.428	ZNF224-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460477.1	NM_013398		T	44611929	C	T	44611929	3	4	751	1	0	0	0	0	1	0	0	0	17783	594	21	2	1630	2	ZNF224	19	44611929	Missense_Mutation	SNP	C	TCGA-KO-8410-01A-11D-2310-10	572508	44611929	14517054	65	44251											
ZNF285	26974	mdanderson.org	37	19	44891010	44891010	+	Missense_Mutation	SNP	G	G	C	rs150792548	byFrequency	TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr19:44891010G>C	ENST00000330997.4	-	4	1461	c.1397C>G	c.(1396-1398)gCg>gGg	p.A466G	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Missense_Mutation_p.A466G|ZNF285_ENST00000591679.1_Missense_Mutation_p.A473G	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	466					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A466G(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						AGAGCTATACGCAAAATCCTT	0.418																																																1	Substitution - Missense(1)	skin(1)											83	84	83					19																	44891010		2203	4300	6503	SO:0001583	missense	26974			AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"Zinc fingers, C2H2-type", "-"	13079	protein-coding gene	gene with protein product			"zinc finger protein 285A"	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.1397C>G	19.37:g.44891010G>C	ENSP00000333595:p.Ala466Gly		Q17RJ3|Q6B0A8|Q6ISR5	Missense_Mutation	SNP	ENST00000330997.4	37	CCDS12638.1	.	.	.	.	.	.	.	.	.	.	G	9.126	1.010205	0.19277	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	T	0.08008	3.14	3.46	0.829	0.18847	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08714	0.0216	L	0.45744	1.44	0.09310	N	1	B;B	0.34399	0.452;0.0	B;B	0.36666	0.23;0.001	T	0.29488	-1.0010	9	0.56958	D	0.05	.	6.4144	0.21708	0.1094:0.3586:0.532:0.0	.	490;466	B7ZLR9;Q96NJ3	.;ZN285_HUMAN	G	489;466	ENSP00000333595:A466G	ENSP00000333595:A466G	A	-	2	0	ZNF285	49582850	0.000000	0.05858	0.002000	0.10522	0.860000	0.49131	-6.159000	0.00078	0.511000	0.28236	0.298000	0.19748	GCG		0.418	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354		C	44891010	G	C	44891010	3	2	751	1	0	0	0	0	1	0	0	0	17827	1087	38	4	379	4	ZNF285	19	44891010	Missense_Mutation	SNP	G	TCGA-KO-8410-01A-11D-2310-10	279081	44891010	14237973	66	44252											
VN1R4	317703	mdanderson.org	37	19	53770838	53770838	+	Silent	SNP	G	G	A	rs201450916	byFrequency	TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr19:53770838G>A	ENST00000311170.4	-	1	134	c.81C>T	c.(79-81)ctC>ctT	p.L27L	CTD-2245F17.9_ENST00000599803.1_lincRNA	NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	27					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		AGAGATAATGGAGAAGAACAG	0.493										HNSCC(26;0.072)			G|||	13	0.00259585	0.0	0.0	5008	,	,		19592	0.0129		0.0	False		,,,				2504	0.0															0													56	61	59					19																	53770838		2203	4300	6503	SO:0001819	synonymous_variant	317703			AY114733	CCDS33099.1	19q13.42	2012-08-22			ENSG00000228567	ENSG00000228567		"Vomeronasal receptors / Type 1", "GPCR / Unclassified : Vomeronasal receptors, type 1"	19871	protein-coding gene	gene with protein product						12123587	Standard	NM_173857		Approved	V1RL4	uc010ydu.2	Q7Z5H5		ENST00000311170.4:c.81C>T	19.37:g.53770838G>A			Q2M3E2|Q7Z5H6|Q7Z5H7|Q8TDU2	Silent	SNP	ENST00000311170.4	37	CCDS33099.1																																																																																				0.493	VN1R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464287.1	NM_173857		A	53770838	G	A	53770838	2	1	751	1	0	0	0	0	0	0	0	1	17185	1161	41	2		2	VN1R4	19	53770838	Silent	SNP	G	TCGA-KO-8410-01A-11D-2310-10	8879828	53770838	5358145	67	44253											
C20orf152	140894	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	20	34611599	34611599	+	Missense_Mutation	SNP	T	T	A			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr20:34611599T>A	ENST00000373973.3	+	11	1518	c.1345T>A	c.(1345-1347)Ttg>Atg	p.L449M	CNBD2_ENST00000538900.1_Intron|CNBD2_ENST00000349339.1_Missense_Mutation_p.L445M			Q96M20	CNBD2_HUMAN	cyclic nucleotide binding domain containing 2	449																	GGGAAATGAGTTGATACGGAT	0.438																																																0													116	113	114					20																	34611599		2203	4300	6503	SO:0001583	missense	140894			AL359828	CCDS13270.1, CCDS56189.1	20q11.23	2012-11-15	2012-11-15	2012-11-15	ENSG00000149646	ENSG00000149646			16145	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 152", "cyclic nucleotide (cNMP) binding domain containing 1"	C20orf152, CNMPD1		11780052	Standard	NM_080834		Approved	dJ954P9.1	uc002xer.1	Q96M20	OTTHUMG00000032371	ENST00000373973.3:c.1345T>A	20.37:g.34611599T>A	ENSP00000363084:p.Leu449Met		Q14C79|Q5JWY7|Q5T3S1|Q9BR36|Q9BWY5	Missense_Mutation	SNP	ENST00000373973.3	37		.	.	.	.	.	.	.	.	.	.	T	5.565	0.289134	0.10513	.	.	ENSG00000149646	ENST00000373973;ENST00000349339	T;T	0.55760	0.5;0.5	4.83	-2.93	0.05598	.	0.416111	0.21671	N	0.070873	T	0.22437	0.0541	N	0.03608	-0.345	0.80722	D	1	B	0.15473	0.013	B	0.18561	0.022	T	0.01266	-1.1401	10	0.46703	T	0.11	-6.2142	6.1413	0.20261	0.1648:0.0:0.2538:0.5814	.	445	Q96M20-2	.	M	449;445	ENSP00000363084:L449M;ENSP00000340954:L445M	ENSP00000340954:L445M	L	+	1	2	C20orf152	34075013	0.188000	0.23250	0.913000	0.36048	0.023000	0.10783	-1.726000	0.01861	-0.599000	0.05798	-2.316000	0.00254	TTG		0.438	CNBD2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000078960.2	NM_080834		A	34611599	T	A	34611599	3	1	751	1	0	0	0	0	1	0	0	0	2094	1722	60	5	1375	5	C20orf152	20	34611599	Missense_Mutation	SNP	T	TCGA-KO-8410-01A-11D-2310-10		34611599	28413921	68	44254											
SERINC3	10955	broad.mit.edu;mdanderson.org	37	20	43129733	43129733	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr20:43129733T>C	ENST00000342374.4	-	9	1421	c.1264A>G	c.(1264-1266)Acc>Gcc	p.T422A	SERINC3_ENST00000255175.1_Missense_Mutation_p.T422A|SERINC3_ENST00000541235.1_Missense_Mutation_p.T367A	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	422					phosphatidylserine metabolic process (GO:0006658)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			CTGGTCAGGGTCATCATGATG	0.493																																																0													115	105	109					20																	43129733		2203	4300	6503	SO:0001583	missense	10955			U49188	CCDS13333.1	20q13.12	2008-05-14	2005-11-15	2005-11-15	ENSG00000132824	ENSG00000132824			11699	protein-coding gene	gene with protein product		607165	"tumor differentially expressed 1"	TDE1		10559794	Standard	NM_006811		Approved	DIFF33, TDE, SBBI99, TMS-1, AIGP1	uc002xme.3	Q13530	OTTHUMG00000033087	ENST00000342374.4:c.1264A>G	20.37:g.43129733T>C	ENSP00000340243:p.Thr422Ala		B4DUE9|O43717|Q9BR33	Missense_Mutation	SNP	ENST00000342374.4	37	CCDS13333.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.995964	0.74703	.	.	ENSG00000132824	ENST00000411544;ENST00000255175;ENST00000342374;ENST00000538937;ENST00000541235	T;T;T;T	0.16324	2.35;2.35;2.35;2.35	5.3	4.2	0.49525	.	0.044662	0.85682	D	0.000000	T	0.48132	0.1483	M	0.93808	3.46	0.80722	D	1	B;P	0.48834	0.291;0.916	P;D	0.64237	0.491;0.923	T	0.55496	-0.8132	10	0.52906	T	0.07	-20.6231	10.9707	0.47438	0.0:0.0729:0.0:0.9271	.	422;422	Q53GK8;Q13530	.;SERC3_HUMAN	A	161;422;422;389;367	ENSP00000414197:T161A;ENSP00000255175:T422A;ENSP00000340243:T422A;ENSP00000440966:T367A	ENSP00000255175:T422A	T	-	1	0	SERINC3	42563147	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.746000	0.85057	1.038000	0.40049	0.460000	0.39030	ACC		0.493	SERINC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080544.3	NM_006811		C	43129733	T	C	43129733	3	2	751	1	0	0	0	0	1	0	0	0	14087	1667	58	3	165	3	SERINC3	20	43129733	Missense_Mutation	SNP	T	TCGA-KO-8410-01A-11D-2310-10	8518134	43129733	19895787	69	44255											
DSCAM	1826	broad.mit.edu;mdanderson.org	37	21	41384994	41384994	+	Silent	SNP	G	G	A			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr21:41384994G>A	ENST00000400454.1	-	33	6483	c.6006C>T	c.(6004-6006)aaC>aaT	p.N2002N		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	2002				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966). {ECO:0000305}.	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)				CGTAAGGATTGTTTCCTTTCA	0.463																																					Melanoma(134;970 1778 1785 21664 32388)											0													66	65	66					21																	41384994		1892	4127	6019	SO:0001819	synonymous_variant	1826			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.6006C>T	21.37:g.41384994G>A			O60468	Silent	SNP	ENST00000400454.1	37	CCDS42929.1																																																																																				0.463	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		A	41384994	G	A	41384994	2	1	751	1	0	0	0	0	0	0	0	1	4770	1368	48	2		2	DSCAM	21	41384994	Silent	SNP	G	TCGA-KO-8410-01A-11D-2310-10		41384994	6744901	70	44256											
MTMR3	8897	ucsc.edu	37	22	30418651	30418651	+	Silent	SNP	T	T	C			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr22:30418651T>C	ENST00000401950.2	+	19	3732	c.3390T>C	c.(3388-3390)agT>agC	p.S1130S	MTMR3_ENST00000333027.3_Silent_p.S1093S|MTMR3_ENST00000406629.1_Silent_p.S1093S|CTA-85E5.10_ENST00000453743.2_RNA|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000323630.5_Silent_p.S994S|MTMR3_ENST00000351488.3_Silent_p.S1093S	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	1130					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			CGTGCGACAGTGCCTTCTGGC	0.607																																																0													77	58	65					22																	30418651		2203	4300	6503	SO:0001819	synonymous_variant	8897			U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"Zinc fingers, FYVE domain containing", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.3390T>C	22.37:g.30418651T>C			A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Silent	SNP	ENST00000401950.2	37	CCDS13870.1																																																																																				0.607	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1	NM_021090		C	30418651	T	C	30418651	2	2	751	1	0	0	0	0	0	0	0	1	9947	1693	59	3		3	MTMR3	22	30418651	Silent	SNP	T	TCGA-KO-8410-01A-11D-2310-10		30418651	20885915	71	44257											
BRWD3	254065	broad.mit.edu	37	X	79989615	79989615	+	Splice_Site	SNP	A	A	G			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chrX:79989615A>G	ENST00000373275.4	-	11	1303		c.e11+1			NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3						cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						ATTTTCTCTTACCGTATGTGA	0.333																																																0													110	100	103					X																	79989615		2203	4296	6499	SO:0001630	splice_region_variant	254065				CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"WD repeat domain containing"	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.1086+1T>C	X.37:g.79989615A>G			C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Splice_Site	SNP	ENST00000373275.4	37	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	A	18.83	3.707187	0.68615	.	.	ENSG00000165288	ENST00000373275	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2102	0.65759	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BRWD3	79876271	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.672000	0.91181	1.932000	0.55993	0.441000	0.28932	.		0.333	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252	Intron	G	79989615	A	G	79989615	5	3	751	1	0	0	0	0	0	0	1	0	1528	405	14	3	4444	3	BRWD3	23	79989615	Splice_Site	SNP	A	TCGA-KO-8410-01A-11D-2310-10		79989615	75280945	72	44258											
CXorf48	54967	broad.mit.edu;mdanderson.org	37	X	134294442	134294442	+	Silent	SNP	G	G	A			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chrX:134294442G>A	ENST00000276241.6	-	3	544	c.318C>T	c.(316-318)ccC>ccT	p.P106P	CXorf48_ENST00000344129.2_Silent_p.P106P	NM_001031705.2	NP_001026875.1	Q8WUE5	CT55_HUMAN		106										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5	Acute lymphoblastic leukemia(192;0.000127)					CTGAGTCTGAGGGTCCAGCAC	0.328																																																0													38	36	37					X																	134294442		2203	4298	6501	SO:0001819	synonymous_variant	54967																														ENST00000276241.6:c.318C>T	X.37:g.134294442G>A			Q9NWY8	Silent	SNP	ENST00000276241.6	37	CCDS35400.1																																																																																				0.328	CXorf48-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058404.1			A	134294442	G	A	134294442	2	1	751	1	0	0	0	0	0	0	0	1	4113	987	35	2		2	CXorf48	23	134294442	Silent	SNP	G	TCGA-KO-8410-01A-11D-2310-10	54304827	134294442	20976118	73	44259											
BRCC3	79184	broad.mit.edu	37	X	154344462	154344462	+	Splice_Site	SNP	A	A	T			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chrX:154344462A>T	ENST00000369462.1	+	9	779	c.754A>T	c.(754-756)Agc>Tgc	p.S252C	BRCC3_ENST00000340647.4_Splice_Site_p.S228C|BRCC3_ENST00000399042.1_Splice_Site_p.S252C|BRCC3_ENST00000369459.2_Intron|BRCC3_ENST00000330045.7_Splice_Site_p.S227C|MTCP1_ENST00000362018.2_Intron	NM_024332.3	NP_077308.1	P46736	BRCC3_HUMAN	BRCA1/BRCA2-containing complex, subunit 3	252					double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|histone H2A K63-linked deubiquitination (GO:0070537)|positive regulation of DNA repair (GO:0045739)|protein K63-linked deubiquitination (GO:0070536)|regulation of catalytic activity (GO:0050790)|response to ionizing radiation (GO:0010212)|response to X-ray (GO:0010165)	BRCA1-A complex (GO:0070531)|BRISC complex (GO:0070552)|nuclear ubiquitin ligase complex (GO:0000152)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	enzyme regulator activity (GO:0030234)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|polyubiquitin binding (GO:0031593)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1)	22	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)					GAGGATCCACAGGTAGAGACc	0.502																																																0													73	64	67					X																	154344462		1981	4142	6123	SO:0001630	splice_region_variant	79184			X64643	CCDS56610.1, CCDS56611.1, CCDS56612.1	Xq28	2013-05-29	2005-11-21	2005-11-21	ENSG00000185515	ENSG00000185515			24185	protein-coding gene	gene with protein product	"Lys-63-specific deubiquitinase"	300617	"chromosome X open reading frame 53"	CXorf53		1303175, 14636569	Standard	NM_024332		Approved	C6.1A, BRCC36	uc004fna.3	P46736	OTTHUMG00000022658	ENST00000369462.1:c.755+1A>T	X.37:g.154344462A>T			A6QRF8|A6QRF9|A8MUX5|A8MWH0|A9Z1Y0|A9Z1Y5|B1B062|B4DQN7|Q16107|Q53YX5|Q9BTZ6	Missense_Mutation	SNP	ENST00000369462.1	37	CCDS56611.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.950183	0.73787	.	.	ENSG00000185515	ENST00000340647;ENST00000330045;ENST00000369462;ENST00000399042	T;T;T;T	0.47869	0.85;0.85;0.83;0.83	4.57	4.57	0.56435	.	0.045370	0.85682	D	0.000000	T	0.49932	0.1586	N	0.22421	0.69	0.80722	D	1	D;D	0.71674	0.992;0.998	P;P	0.61201	0.794;0.885	T	0.52631	-0.8550	10	0.52906	T	0.07	-10.0279	12.4562	0.55706	1.0:0.0:0.0:0.0	.	227;252	P46736-2;P46736	.;BRCC3_HUMAN	C	228;227;252;252	ENSP00000344103:S228C;ENSP00000328641:S227C;ENSP00000358474:S252C;ENSP00000381998:S252C	ENSP00000328641:S227C	S	+	1	0	BRCC3	153997656	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	6.698000	0.74608	1.775000	0.52247	0.481000	0.45027	AGC		0.502	BRCC3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058788.4	NM_024332	Missense_Mutation	T	154344462	A	T	154344462	5	4	751	1	0	0	0	0	0	0	1	0	1502	202	7	5	788	5	BRCC3	23	154344462	Splice_Site	SNP	A	TCGA-KO-8410-01A-11D-2310-10	20050020	154344462	926098	74	44260											
TTC39A	22996	ucsc.edu	37	1	51761772	51761772	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr1:51761772T>C	ENST00000447632.2	-	13	1280	c.1232A>G	c.(1231-1233)gAc>gGc	p.D411G	TTC39A_ENST00000451380.1_Missense_Mutation_p.D375G|TTC39A_ENST00000371747.3_Missense_Mutation_p.D410G|TTC39A_ENST00000534098.1_Intron|TTC39A_ENST00000530004.1_Missense_Mutation_p.D19G|TTC39A_ENST00000262675.7_Missense_Mutation_p.D348G|TTC39A_ENST00000413473.2_Missense_Mutation_p.D379G|TTC39A_ENST00000371750.5_Missense_Mutation_p.D376G			Q5SRH9	TT39A_HUMAN	tetratricopeptide repeat domain 39A	411								p.0?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						CACTTCGTCGTCCCCGAACGG	0.592																																																2	Whole gene deletion(2)	thyroid(1)|central_nervous_system(1)											56	65	62					1																	51761772		2052	4187	6239	SO:0001583	missense	22996			AB007921	CCDS44143.1, CCDS44144.1, CCDS72789.1, CCDS72790.1	1p32.3	2013-01-11	2008-06-23	2008-06-23	ENSG00000085831	ENSG00000085831		"Tetratricopeptide (TTC) repeat domain containing"	18657	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 34"	C1orf34		9455484, 9461476	Standard	XM_005270643		Approved	KIAA0452, DEME-6	uc010onf.2	Q5SRH9	OTTHUMG00000008193	ENST00000447632.2:c.1232A>G	1.37:g.51761772T>C	ENSP00000393952:p.Asp411Gly		B7Z782|E7EQY9|G3XAF8|O43417|O75040|Q5SRH5|Q5SRH6|Q5SRH7|Q5SRH8|Q5SRI0|Q5SRI1|Q5SRI2|Q5T7S1|Q6PIU8|Q9BT24	Missense_Mutation	SNP	ENST00000447632.2	37		.	.	.	.	.	.	.	.	.	.	T	23.6	4.437380	0.83885	.	.	ENSG00000085831	ENST00000530004;ENST00000447632;ENST00000413473;ENST00000262675;ENST00000451380;ENST00000371750;ENST00000525906;ENST00000371747	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	5.09	5.09	0.68999	.	0.045757	0.85682	D	0.000000	T	0.56949	0.2020	M	0.64404	1.975	0.58432	D	0.999994	P;P;P;P;P;P	0.49862	0.523;0.578;0.929;0.929;0.888;0.913	B;B;P;P;P;P	0.51297	0.236;0.348;0.665;0.665;0.484;0.535	T	0.60495	-0.7252	10	0.52906	T	0.07	-12.7519	14.8601	0.70376	0.0:0.0:0.0:1.0	.	379;375;348;375;411;376	Q5SRH9-4;E7EQY9;D3DQ30;B7Z782;Q5SRH9;G3XAF8	.;.;.;.;TT39A_HUMAN;.	G	19;411;379;348;375;376;19;410	ENSP00000431228:D19G;ENSP00000393952:D411G;ENSP00000406144:D379G;ENSP00000262675:D348G;ENSP00000397207:D375G;ENSP00000360815:D376G;ENSP00000436659:D19G;ENSP00000360812:D410G	ENSP00000262675:D348G	D	-	2	0	TTC39A	51534360	1.000000	0.71417	1.000000	0.80357	0.652000	0.38707	7.601000	0.82783	1.899000	0.54978	0.460000	0.39030	GAC		0.592	TTC39A-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000022434.2			C	51761772	T	C	51761772	3	2	752	1	0	0	0	0	1	0	0	0	16712	1667	58	3	633	3	TTC39A	1	51761772	Missense_Mutation	SNP	T	TCGA-KO-8411-01A-11D-2310-10		51761772	197488849	1	44261											
USP24	23358	ucsc.edu	37	1	55595207	55595207	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr1:55595207A>G	ENST00000294383.6	-	32	3577	c.3578T>C	c.(3577-3579)aTg>aCg	p.M1193T	USP24_ENST00000407756.1_Missense_Mutation_p.M1033T	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1193					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						GCTTCTGGCCATGTCATCATC	0.408																																																0													97	96	96					1																	55595207		1909	4128	6037	SO:0001583	missense	23358			AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"Ubiquitin-specific peptidases"	12623	protein-coding gene	gene with protein product		610569	"ubiquitin specific protease 24"			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.3578T>C	1.37:g.55595207A>G	ENSP00000294383:p.Met1193Thr		Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	ENST00000294383.6	37	CCDS44154.2	.	.	.	.	.	.	.	.	.	.	A	4.152	0.026554	0.08054	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.02197	4.4;4.42	5.78	4.64	0.57946	.	0.071934	0.85682	D	0.000000	T	0.01765	0.0056	N	0.14661	0.345	0.54753	D	0.999983	B	0.14438	0.01	B	0.13407	0.009	T	0.53844	-0.8381	10	0.12766	T	0.61	.	13.075	0.59081	0.8658:0.1342:0.0:0.0	.	1033	B7WPF4	.	T	1193;1033	ENSP00000294383:M1193T;ENSP00000385700:M1033T	ENSP00000294383:M1193T	M	-	2	0	USP24	55367795	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.962000	0.93254	0.988000	0.38734	0.482000	0.46254	ATG		0.408	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			G	55595207	A	G	55595207	3	3	752	1	0	0	0	0	1	0	0	0	17060	217	8	3	4432	3	USP24	1	55595207	Missense_Mutation	SNP	A	TCGA-KO-8411-01A-11D-2310-10	3833435	55595207	193655414	2	44262											
WLS	79971	hgsc.bcm.edu;mdanderson.org	37	1	68697908	68697908	+	Silent	SNP	T	T	C			TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr1:68697908T>C	ENST00000262348.4	-	1	328	c.75A>G	c.(73-75)caA>caG	p.Q25Q	WLS_ENST00000370976.3_Silent_p.Q25Q|WLS_ENST00000370971.1_Silent_p.Q25Q|WLS_ENST00000354777.2_Silent_p.Q25Q|WLS_ENST00000540432.1_Silent_p.Q25Q	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator	25					anterior/posterior axis specification (GO:0009948)|mesoderm formation (GO:0001707)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						AGGCGATGATTTGGAACACGA	0.498																																																0													174	160	165					1																	68697908		2203	4300	6503	SO:0001819	synonymous_variant	79971			BX538320	CCDS642.1, CCDS30750.1, CCDS53331.1	1p31.2	2013-10-03	2013-10-03	2010-03-02	ENSG00000116729	ENSG00000116729			30238	protein-coding gene	gene with protein product	"wntless homolog"	611514	"chromosome 1 open reading frame 139", "G protein-coupled receptor 177", "wntless homolog (Drosophila)"	C1orf139, GPR177		12761501	Standard	NM_024911		Approved	FLJ23091, MRP, wls, EVI, mig-14	uc001dee.3	Q5T9L3	OTTHUMG00000009153	ENST00000262348.4:c.75A>G	1.37:g.68697908T>C			B2RNT2|Q5JRS7|Q7Z2Z9|Q8NC43	Silent	SNP	ENST00000262348.4	37	CCDS642.1	.	.	.	.	.	.	.	.	.	.	t	8.540	0.873082	0.17322	.	.	ENSG00000116729	ENST00000534713	.	.	.	4.72	-2.39	0.06602	.	.	.	.	.	T	0.31327	0.0793	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.31724	-0.9933	4	.	.	.	-17.2091	5.2658	0.15597	0.1197:0.2776:0.0:0.6027	.	.	.	.	R	19	.	.	K	-	2	0	WLS	68470496	0.998000	0.40836	0.279000	0.24732	0.985000	0.73830	0.381000	0.20619	-0.657000	0.05373	0.249000	0.18162	AAA		0.498	WLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025368.1	NM_024911		C	68697908	T	C	68697908	2	2	752	1	0	0	0	0	0	0	0	1	17381	1838	64	3		3	WLS	1	68697908	Silent	SNP	T	TCGA-KO-8411-01A-11D-2310-10	13102701	68697908	180552713	3	44263											
WNT2B	7482	broad.mit.edu;mdanderson.org;bcgsc.ca	37	1	113058941	113058941	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr1:113058941G>A	ENST00000369684.4	+	3	1068	c.583G>A	c.(583-585)Ggt>Agt	p.G195S	WNT2B_ENST00000256640.5_Missense_Mutation_p.G103S|WNT2B_ENST00000478360.1_3'UTR|RP4-671G15.2_ENST00000608357.1_RNA|WNT2B_ENST00000369686.5_Missense_Mutation_p.G176S	NM_024494.2	NP_078613.1	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family, member 2B	195					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to starvation (GO:0009267)|chondrocyte differentiation (GO:0002062)|cornea development in camera-type eye (GO:0061303)|forebrain regionalization (GO:0021871)|hematopoietic stem cell proliferation (GO:0071425)|iris morphogenesis (GO:0061072)|lens development in camera-type eye (GO:0002088)|lung induction (GO:0060492)|male gonad development (GO:0008584)|mesenchymal-epithelial cell signaling (GO:0060638)|neuron differentiation (GO:0030182)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-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)		CATCCACTACGGTGTCCGTTT	0.572																																																0													160	142	148					1																	113058941		2203	4300	6503	SO:0001583	missense	7482			AB045116	CCDS847.1, CCDS846.1	1p13	2008-07-18			ENSG00000134245	ENSG00000134245		"Wingless-type MMTV integration sites"	12781	protein-coding gene	gene with protein product	"XWNT2, Xenopus, homolog of", "wingless-type MMTV integration site family, member 13"	601968		WNT13		8761309, 10944466	Standard	NM_024494		Approved	XWNT2	uc001ecb.3	Q93097	OTTHUMG00000011157	ENST00000369684.4:c.583G>A	1.37:g.113058941G>A	ENSP00000358698:p.Gly195Ser		O14903|Q5TEH9|Q5TEI2|Q9HDC1|Q9HDC2	Missense_Mutation	SNP	ENST00000369684.4	37	CCDS847.1	.	.	.	.	.	.	.	.	.	.	G	36	5.805918	0.96967	.	.	ENSG00000134245	ENST00000256640;ENST00000369686;ENST00000369684	D;D;D	0.81996	-1.56;-1.56;-1.56	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.91469	0.7307	M	0.85710	2.77	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.954;0.993	D	0.92181	0.5751	10	0.87932	D	0	.	19.2806	0.94051	0.0:0.0:1.0:0.0	.	195;176	Q93097;Q93097-2	WNT2B_HUMAN;.	S	103;176;195	ENSP00000256640:G103S;ENSP00000358700:G176S;ENSP00000358698:G195S	ENSP00000256640:G103S	G	+	1	0	WNT2B	112860464	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.869000	0.99810	2.637000	0.89404	0.561000	0.74099	GGT		0.572	WNT2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030692.1	NM_004185		A	113058941	G	A	113058941	3	1	752	1	0	0	0	0	1	0	0	0	17392	1116	39	1	726	1	WNT2B	1	113058941	Missense_Mutation	SNP	G	TCGA-KO-8411-01A-11D-2310-10	44361033	113058941	136191680	4	44264											
SLC27A3	11000	mdanderson.org	37	1	153748161	153748161	+	Missense_Mutation	SNP	G	G	C	rs34527123|rs587776392	byFrequency	TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr1:153748161G>C	ENST00000368661.3	+	1	394	c.329G>C	c.(328-330)gGg>gCg	p.G110A	SLC27A3_ENST00000271857.2_Missense_Mutation_p.G191A|SLC27A3_ENST00000484014.1_Intron	NM_024330.1	NP_077306.1	Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3	110			G -> A (in dbSNP:rs34527123).		fatty acid metabolic process (GO:0006631)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA synthase activity (GO:0004321)|ligase activity (GO:0016874)|nucleotide binding (GO:0000166)			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGTCCCGAGGGGGGCTGCAGC	0.711													G|||	51	0.0101837	0.0008	0.0173	5008	,	,		13208	0.001		0.0328	False		,,,				2504	0.0041															0								G	ALA/GLY	21,3907		0,21,1943	4	6	5		329	2.8	1	1	dbSNP_126	5	220,7654		2,216,3719	no	missense	SLC27A3	NM_024330.1	60	2,237,5662	CC,CG,GG		2.794,0.5346,2.042	possibly-damaging	110/731	153748161	241,11561	1964	3937	5901	SO:0001583	missense	11000			BC009916	CCDS1053.1	1q21.1	2013-05-22			ENSG00000143554	ENSG00000143554		"Acyl-CoA synthetase family", "Solute carriers"	10997	protein-coding gene	gene with protein product		604193				9671728	Standard	NM_024330		Approved	FATP3, MGC4365, ACSVL3	uc001fcz.3	Q5K4L6	OTTHUMG00000037155	ENST00000368661.3:c.329G>C	1.37:g.153748161G>C	ENSP00000357650:p.Gly110Ala		Q5VUQ7|Q5VUQ8|Q5VUR3|Q6ZV16|Q8N2X7|Q8TEJ0|Q96SW5|Q9BTJ5|Q9BTY5	Missense_Mutation	SNP	ENST00000368661.3	37	CCDS1053.1	40	0.018315018315018316	3	0.006097560975609756	8	0.022099447513812154	1	0.0017482517482517483	28	0.036939313984168866	G	15.58	2.876242	0.51801	0.005346	0.02794	ENSG00000143554	ENST00000271857;ENST00000368661	T;T	0.58210	0.35;0.4	3.71	2.78	0.32641	.	0.562171	0.15028	N	0.284627	T	0.13970	0.0338	N	0.14661	0.345	0.19300	N	0.999971	B	0.02656	0.0	B	0.04013	0.001	T	0.24512	-1.0158	10	0.25751	T	0.34	-2.2657	8.9582	0.35832	0.0:0.2277:0.7723:0.0	rs34527123	110	Q5K4L6	S27A3_HUMAN	A	191;110	ENSP00000271857:G191A;ENSP00000357650:G110A	ENSP00000271857:G191A	G	+	2	0	SLC27A3	152014785	0.535000	0.26370	0.973000	0.42090	0.938000	0.57974	0.716000	0.25836	0.753000	0.32945	0.462000	0.41574	GGG		0.711	SLC27A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_024330		C	153748161	G	C	153748161	3	2	752	1	0	0	0	0	1	0	0	0	14533	1232	43	4	331	4	SLC27A3	1	153748161	Missense_Mutation	SNP	G	TCGA-KO-8411-01A-11D-2310-10	40689220	153748161	95502460	5	44265											
C1orf125	126859	mdanderson.org	37	1	179504037	179504037	+	Missense_Mutation	SNP	G	G	C	rs200097954|rs368406759|rs6425573	byFrequency	TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr1:179504037G>C	ENST00000367618.3	+	25	3358	c.2971G>C	c.(2971-2973)Gaa>Caa	p.E991Q		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	991	Glu-rich.		E -> Q (in dbSNP:rs6425573).					p.E991_Q992delEQ(1)		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						agaagaagaagaacaacaaga	0.318													G|||	14	0.00279553	0.0	0.0058	5008	,	,		17137	0.002		0.004	False		,,,				2504	0.0041															1	Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(1)											49	51	50					1																	179504037		2152	4286	6438	SO:0001583	missense	126859			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.2971G>C	1.37:g.179504037G>C	ENSP00000356590:p.Glu991Gln		Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	ENST00000367618.3	37	CCDS30948.1	.	.	.	.	.	.	.	.	.	.	G	9.300	1.052898	0.19907	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000434088	T;T	0.19105	2.17;2.17	4.89	-6.02	0.02192	.	0.508747	0.16499	N	0.211773	T	0.08980	0.0222	N	0.24115	0.695	0.09310	N	1	B;B	0.24186	0.099;0.099	B;B	0.10450	0.003;0.005	T	0.15838	-1.0423	10	0.28530	T	0.3	-2.8152	6.1976	0.20557	0.4456:0.3814:0.173:0.0	rs6425573	875;991	E9PCJ4;Q5T1B0	.;AXDN1_HUMAN	Q	991;875;851	ENSP00000356590:E991Q;ENSP00000391716:E851Q	ENSP00000353471:E875Q	E	+	1	0	AXDND1	177770660	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.365000	0.20348	-1.164000	0.02790	-1.047000	0.02352	GAA		0.318	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696		C	179504037	G	C	179504037	3	2	752	1	0	0	0	0	1	0	0	0	1995	943	33	4	3065	4	C1orf125	1	179504037	Missense_Mutation	SNP	G	TCGA-KO-8411-01A-11D-2310-10	25755876	179504037	69746584	6	44266	453	2									
C1orf125	126859	mdanderson.org	37	1	179504040	179504040	+	Missense_Mutation	SNP	C	C	G	rs200097954|rs368406759|rs79330752	byFrequency	TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr1:179504040C>G	ENST00000367618.3	+	25	3361	c.2974C>G	c.(2974-2976)Caa>Gaa	p.Q992E		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	992	Glu-rich.							p.E991_Q992delEQ(1)		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						agaagaagaacaacaagaaga	0.318													c|||	14	0.00279553	0.0	0.0058	5008	,	,		17397	0.002		0.004	False		,,,				2504	0.0041															1	Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(1)											50	53	52					1																	179504040		2149	4285	6434	SO:0001583	missense	126859			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.2974C>G	1.37:g.179504040C>G	ENSP00000356590:p.Gln992Glu		Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	ENST00000367618.3	37	CCDS30948.1	.	.	.	.	.	.	.	.	.	.	c	0.001	-2.898575	0.00058	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000434088	T;T	0.15256	2.44;2.44	2.01	-1.28	0.09318	.	1.561730	0.04078	N	0.309154	T	0.06554	0.0168	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	0.23904	-1.0175	10	0.02654	T	1	-5.6078	3.1227	0.06397	0.3057:0.2604:0.4339:0.0	.	876;992	E9PCJ4;Q5T1B0	.;AXDN1_HUMAN	E	992;876;852	ENSP00000356590:Q992E;ENSP00000391716:Q852E	ENSP00000353471:Q876E	Q	+	1	0	AXDND1	177770663	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.281000	0.08456	-0.358000	0.08162	-4.192000	0.00009	CAA		0.318	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696		G	179504040	C	G	179504040	3	3	752	1	0	0	0	0	1	0	0	0	1995	479	17	4	3068	4	C1orf125	1	179504040	Missense_Mutation	SNP	C	TCGA-KO-8411-01A-11D-2310-10	3	179504040	69746581	7	44267	453	2									
HMCN1	83872	broad.mit.edu;bcgsc.ca	37	1	185891568	185891568	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr1:185891568C>T	ENST00000271588.4	+	7	1187	c.958C>T	c.(958-960)Cga>Tga	p.R320*	HMCN1_ENST00000367492.2_Nonsense_Mutation_p.R320*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	320					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.R320*(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						TATTGATTTCCGAGCTGGCTT	0.423																																																1	Substitution - Nonsense(1)	urinary_tract(1)											75	70	71					1																	185891568		2203	4300	6503	SO:0001587	stop_gained	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.958C>T	1.37:g.185891568C>T	ENSP00000271588:p.Arg320*		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Nonsense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	40	8.096734	0.98651	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	.	.	.	5.43	4.51	0.55191	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0593	0.64790	0.2741:0.7259:0.0:0.0	.	.	.	.	X	320	.	ENSP00000271588:R320X	R	+	1	2	HMCN1	184158191	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.287000	0.33284	1.258000	0.44101	0.655000	0.94253	CGA		0.423	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		T	185891568	C	T	185891568	4	4	752	1	0	0	0	0	0	1	0	0	7222	644	23	1	984	1	HMCN1	1	185891568	Nonsense_Mutation	SNP	C	TCGA-KO-8411-01A-11D-2310-10	6387528	185891568	63359053	8	44268											
FAM179A	165186	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	29274925	29274925	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr2:29274925C>T	ENST00000379558.4	+	20	3377	c.3026C>T	c.(3025-3027)aCa>aTa	p.T1009I	FAM179A_ENST00000403861.2_Missense_Mutation_p.T954I|FAM179A_ENST00000465300.1_3'UTR	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	1009										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						GACAGCAAGACAACTGGCAGC	0.478																																																0													26	28	27					2																	29274925		1907	4123	6030	SO:0001583	missense	165186			AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.3026C>T	2.37:g.29274925C>T	ENSP00000368876:p.Thr1009Ile		Q6ZUF5	Missense_Mutation	SNP	ENST00000379558.4	37	CCDS1769.2	.	.	.	.	.	.	.	.	.	.	C	12.97	2.096144	0.36952	.	.	ENSG00000189350	ENST00000379558;ENST00000403861	T;T	0.09255	3.14;3.0	5.68	1.84	0.25277	.	1.414210	0.04767	N	0.427403	T	0.10508	0.0257	N	0.22421	0.69	0.09310	N	1	P;P	0.49358	0.923;0.766	P;B	0.46110	0.504;0.243	T	0.21793	-1.0235	10	0.54805	T	0.06	.	4.9181	0.13856	0.1464:0.6259:0.0:0.2277	.	954;1009	F8W8E4;Q6ZUX3	.;F179A_HUMAN	I	1009;954	ENSP00000368876:T1009I;ENSP00000384699:T954I	ENSP00000368876:T1009I	T	+	2	0	FAM179A	29128429	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	0.022000	0.13511	0.064000	0.16427	0.655000	0.94253	ACA		0.478	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	NM_199280		T	29274925	C	T	29274925	3	4	752	1	0	0	0	0	1	0	0	0	5507	478	17	2	3100	2	FAM179A	2	29274925	Missense_Mutation	SNP	C	TCGA-KO-8411-01A-11D-2310-10		29274925	213924448	9	44269											
CTDSPL	10217	ucsc.edu;mdanderson.org	37	3	38009346	38009346	+	Silent	SNP	G	G	A			TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr3:38009346G>A	ENST00000273179.5	+	5	425	c.399G>A	c.(397-399)ccG>ccA	p.P133P	CTDSPL_ENST00000443503.2_Silent_p.P122P|MIR26A1_ENST00000362205.1_RNA|CTDSPL_ENST00000310189.3_3'UTR	NM_001008392.1	NP_001008393.1	O15194	CTDSL_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase-like	133	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(2)|large_intestine(4)|skin(1)	8		Melanoma(1037;0.0122)		KIRC - Kidney renal clear cell carcinoma(284;0.0729)|Kidney(284;0.0902)		TTATTGTTCCGGTTGAAATCG	0.284											OREG0015472	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													63	62	62					3																	38009346		2198	4298	6496	SO:0001819	synonymous_variant	10217			D88153	CCDS33734.1, CCDS33735.1	3p21.3	2010-06-21	2003-10-27	2003-10-29	ENSG00000144677	ENSG00000144677	3.1.3.16	"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	16890	protein-coding gene	gene with protein product	"small CTD phosphatase 3", "HYA22 protein", "RB protein serine phosphatase from chromosome 3"	608592	"chromosome 3 open reading frame 8"	C3orf8		9179494, 12543795	Standard	NM_005808		Approved	HYA22, SCP3, PSR1, RBSP3	uc003chg.3	O15194	OTTHUMG00000155942	ENST00000273179.5:c.399G>A	3.37:g.38009346G>A		874	Q3ZTU0|Q70KI4|Q7Z5Q2	Silent	SNP	ENST00000273179.5	37	CCDS33734.1	.	.	.	.	.	.	.	.	.	.	G	9.235	1.036705	0.19669	.	.	ENSG00000144677	ENST00000416688	.	.	.	5.25	1.09	0.20402	.	.	.	.	.	T	0.51652	0.1687	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35351	-0.9792	4	.	.	.	-16.9444	5.6624	0.17676	0.0633:0.1909:0.2146:0.5311	.	.	.	.	S	42	.	.	G	+	1	0	CTDSPL	37984350	0.228000	0.23718	0.996000	0.52242	0.999000	0.98932	-0.451000	0.06795	-0.024000	0.13941	0.655000	0.94253	GGT		0.284	CTDSPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342392.1	NM_005808		A	38009346	G	A	38009346	2	1	752	1	0	0	0	0	0	0	0	1	4007	1103	39	1		1	CTDSPL	3	38009346	Silent	SNP	G	TCGA-KO-8411-01A-11D-2310-10		38009346	160013084	10	44270											
NKTR	4820	broad.mit.edu	37	3	42660605	42660605	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr3:42660605G>A	ENST00000232978.8	+	4	415	c.227G>A	c.(226-228)gGg>gAg	p.G76E	NKTR_ENST00000442970.1_Missense_Mutation_p.G76E|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	76	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		ATTCAGGGTGGGGACTTCAGT	0.353																																																0													135	146	142					3																	42660605		2203	4300	6503	SO:0001583	missense	4820				CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"NK-tumor recognition protein", "natural-killer cells cyclophilin-related protein", "NK-TR protein"	161565	"natural killer-tumor recognition sequence"			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.227G>A	3.37:g.42660605G>A	ENSP00000232978:p.Gly76Glu			Missense_Mutation	SNP	ENST00000232978.8	37	CCDS2702.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.710635	0.89112	.	.	ENSG00000114857	ENST00000232978;ENST00000442970;ENST00000445842	T;T;T	0.67865	-0.29;-0.29;-0.29	4.94	4.94	0.65067	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (4);Cyclophilin-like (1);Peptidyl-prolyl cis-trans isomerase, cyclophilin-type, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.89955	0.6865	H	0.99286	4.5	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94345	0.7574	10	0.87932	D	0	-16.2248	18.1303	0.89599	0.0:0.0:1.0:0.0	.	76;76	P30414;A8K7K2	NKTR_HUMAN;.	E	76	ENSP00000232978:G76E;ENSP00000390259:G76E;ENSP00000408660:G76E	ENSP00000232978:G76E	G	+	2	0	NKTR	42635609	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.766000	0.98957	2.460000	0.83146	0.555000	0.69702	GGG		0.353	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	NM_005385		A	42660605	G	A	42660605	3	1	752	1	0	0	0	0	1	0	0	0	10450	1232	43	2	237	2	NKTR	3	42660605	Missense_Mutation	SNP	G	TCGA-KO-8411-01A-11D-2310-10	4651259	42660605	155361825	11	44271											
BSN	8927	broad.mit.edu	37	3	49689196	49689196	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr3:49689196delA	ENST00000296452.4	+	5	2321	c.2207delA	c.(2206-2208)cagfs	p.Q736fs		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	736					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)		CCTTTGCTGCAGGCCCAGGGC	0.662																																																0													40	41	41					3																	49689196		2203	4300	6503	SO:0001589	frameshift_variant	8927			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"zinc finger protein 231", "neuronal double zinc finger protein"	604020	"bassoon (presynaptic cytomatrix protein)"	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.2207delA	3.37:g.49689196delA	ENSP00000296452:p.Gln736fs		O43161|Q7LGH3	Frame_Shift_Del	DEL	ENST00000296452.4	37	CCDS2800.1																																																																																				0.662	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		-	49689196	A	-	49689196	7	5	752	1	0	1	0	1	0	0	0	0	1532	188	7	0	2225	0	BSN	3	49689196	Frame_Shift_Del	DEL	A	TCGA-KO-8411-01A-11D-2310-10	7028591	49689196	148333234	12	44272											
RAD54L2	23132	broad.mit.edu	37	3	51624506	51624508	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	GAG	GAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	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																																																0																																										SO:0001651	inframe_deletion	23132			AB018352	CCDS33765.2	3p21.2	2006-01-17			ENSG00000164080	ENSG00000164080			29123	protein-coding gene	gene with protein product						9872452	Standard	NM_015106		Approved	KIAA0809, SRISNF2L	uc011bdt.2	Q9Y4B4	OTTHUMG00000152936	ENST00000409535.2:c.70_72delGAG	3.37:g.51624515_51624517delGAG	ENSP00000386520:p.Glu30del		Q8TB57|Q9BV54	In_Frame_Del	DEL	ENST00000409535.2	37	CCDS33765.2																																																																																				0.586	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328700.2	NM_015106		-	51624508	GAG	-	51624506	7	5	752	1	0	1	0	1	0	0	0	0	13000	943	33	0	72	0	RAD54L2	3	51624506	In_Frame_Del	DEL	GAG	TCGA-KO-8411-01A-11D-2310-10	1935310	51624506	146397924	13	44273											
OR5H1	26341	mdanderson.org	37	3	97851659	97851659	+	Missense_Mutation	SNP	A	A	T	rs199787047	byFrequency	TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr3:97851659A>T	ENST00000354565.2	+	1	118	c.118A>T	c.(118-120)Atg>Ttg	p.M40L	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	40						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M40L(3)		breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						CATCACCATCATGGGGAATCT	0.413																																																3	Substitution - Missense(3)	kidney(2)|endometrium(1)											45	49	48					3																	97851659		2174	4242	6416	SO:0001583	missense	26341			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.118A>T	3.37:g.97851659A>T	ENSP00000346575:p.Met40Leu			Missense_Mutation	SNP	ENST00000354565.2	37	CCDS33797.1	.	.	.	.	.	.	.	.	.	.	A	3.067	-0.192020	0.06299	.	.	ENSG00000231192	ENST00000354565	T	0.00241	8.46	3.63	-0.16	0.13375	.	0.578292	0.14348	N	0.325303	T	0.00073	0.0002	N	0.04116	-0.275	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.04976	-1.0914	10	0.33940	T	0.23	.	7.0903	0.25279	0.5661:0.0:0.4339:0.0	.	40	A6NKK0	OR5H1_HUMAN	L	40	ENSP00000346575:M40L	ENSP00000346575:M40L	M	+	1	0	OR5H1	99334349	0.000000	0.05858	0.016000	0.15963	0.102000	0.19082	-3.263000	0.00535	-0.297000	0.08934	0.164000	0.16699	ATG		0.413	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359100.2	NM_001005338		T	97851659	A	T	97851659	3	4	752	1	0	0	0	0	1	0	0	0	11161	217	8	5	120	5	OR5H1	3	97851659	Missense_Mutation	SNP	A	TCGA-KO-8411-01A-11D-2310-10	46227153	97851659	100170771	14	44274	454	2									
OR5H1	26341	mdanderson.org	37	3	97851661	97851661	+	Missense_Mutation	SNP	G	G	T	rs200721525	byFrequency	TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr3:97851661G>T	ENST00000354565.2	+	1	120	c.120G>T	c.(118-120)atG>atT	p.M40I	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	40						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M40I(4)		breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						TCACCATCATGGGGAATCTTG	0.413																																																4	Substitution - Missense(4)	endometrium(2)|kidney(2)											46	50	48					3																	97851661		2173	4250	6423	SO:0001583	missense	26341			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.120G>T	3.37:g.97851661G>T	ENSP00000346575:p.Met40Ile			Missense_Mutation	SNP	ENST00000354565.2	37	CCDS33797.1	.	.	.	.	.	.	.	.	.	.	G	3.467	-0.108676	0.06924	.	.	ENSG00000231192	ENST00000354565	T	0.00433	7.43	3.63	2.75	0.32379	.	0.578292	0.14348	N	0.325303	T	0.00178	0.0005	N	0.02842	-0.48	0.20764	N	0.999858	B	0.06786	0.001	B	0.04013	0.001	T	0.29882	-0.9997	10	0.33940	T	0.23	.	8.5896	0.33679	0.1182:0.0:0.8818:0.0	.	40	A6NKK0	OR5H1_HUMAN	I	40	ENSP00000346575:M40I	ENSP00000346575:M40I	M	+	3	0	OR5H1	99334351	0.002000	0.14202	0.678000	0.29963	0.118000	0.20060	-0.111000	0.10807	0.729000	0.32403	0.195000	0.17529	ATG		0.413	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359100.2	NM_001005338		T	97851661	G	T	97851661	3	4	752	1	0	0	0	0	1	0	0	0	11161	1348	47	4	122	4	OR5H1	3	97851661	Missense_Mutation	SNP	G	TCGA-KO-8411-01A-11D-2310-10	2	97851661	100170769	15	44275	454	2									
COL6A5	256076	hgsc.bcm.edu	37	3	130095482	130095482	+	Missense_Mutation	SNP	T	T	A			TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr3:130095482T>A	ENST00000432398.2	+	3	964	c.470T>A	c.(469-471)cTg>cAg	p.L157Q	COL6A5_ENST00000265379.6_Missense_Mutation_p.L157Q	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	157	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TCGAAAGCCCTGCAGAAAGAC	0.512																																																0													75	80	78					3																	130095482		692	1591	2283	SO:0001583	missense	256076			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"Collagens"	26674	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 4"	611916	"collagen, type XXIX, alpha 1"	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.470T>A	3.37:g.130095482T>A	ENSP00000390895:p.Leu157Gln		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	ENST00000432398.2	37		.	.	.	.	.	.	.	.	.	.	T	11.74	1.730065	0.30684	.	.	ENSG00000172752	ENST00000432398;ENST00000265379	D;D	0.82893	-1.66;-1.66	5.14	5.14	0.70334	.	.	.	.	.	D	0.92792	0.7708	M	0.92317	3.295	0.34680	D	0.724616	D	0.89917	1.0	D	0.87578	0.998	D	0.97112	0.9805	9	0.87932	D	0	.	14.2338	0.65911	0.0:0.0:0.0:1.0	.	157	A8TX70-2	.	Q	157	ENSP00000390895:L157Q;ENSP00000265379:L157Q	ENSP00000265379:L157Q	L	+	2	0	COL6A5	131578172	0.958000	0.32768	0.849000	0.33467	0.023000	0.10783	6.861000	0.75478	2.064000	0.61679	0.455000	0.32223	CTG		0.512	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264		A	130095482	T	A	130095482	3	1	752	1	0	0	0	0	1	0	0	0	3704	1580	55	5	476	5	COL6A5	3	130095482	Missense_Mutation	SNP	T	TCGA-KO-8411-01A-11D-2310-10	32243821	130095482	67926948	16	44276											
FGFRL1	53834	mdanderson.org	37	4	1019078	1019078	+	Silent	SNP	T	T	A			TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr4:1019078T>A	ENST00000398484.2	+	8	2038	c.1458T>A	c.(1456-1458)tcT>tcA	p.S486S	FGFRL1_ENST00000504138.1_Silent_p.S486S|RP11-460I19.2_ENST00000503095.1_lincRNA|FGFRL1_ENST00000510644.1_Silent_p.S486S|FGFRL1_ENST00000264748.6_Silent_p.S486S			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	486	His-rich.				diaphragm development (GO:0060539)|heart valve morphogenesis (GO:0003179)|negative regulation of cell proliferation (GO:0008285)|skeletal system development (GO:0001501)|ventricular septum morphogenesis (GO:0060412)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			acacacactctcacacacact	0.607																																																0													12	14	13					4																	1019078		2171	4277	6448	SO:0001819	synonymous_variant	53834				CCDS3344.1	4p16	2013-01-11			ENSG00000127418	ENSG00000127418		"Immunoglobulin superfamily / I-set domain containing"	3693	protein-coding gene	gene with protein product		605830					Standard	NM_021923		Approved		uc003gcg.3	Q8N441	OTTHUMG00000118998	ENST00000398484.2:c.1458T>A	4.37:g.1019078T>A			B2RAU9|Q6PJN1|Q9BXN7|Q9H4D7	Silent	SNP	ENST00000398484.2	37	CCDS3344.1																																																																																				0.607	FGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239195.2	NM_021923		A	1019078	T	A	1019078	2	1	752	1	0	0	0	0	0	0	0	1	5871	1538	54	5		5	FGFRL1	4	1019078	Silent	SNP	T	TCGA-KO-8411-01A-11D-2310-10		1019078	190135198	17	44277											
DSPP	1834	broad.mit.edu	37	4	88535571	88535571	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr4:88535571A>G	ENST00000282478.7	+	4	1790	c.1757A>G	c.(1756-1758)gAc>gGc	p.D586G	DSPP_ENST00000399271.1_Missense_Mutation_p.D586G|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	586	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		agtgacagtgacagcagtgat	0.458																																																0													76	80	79					4																	88535571		2165	4223	6388	SO:0001583	missense	1834			AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.1757A>G	4.37:g.88535571A>G	ENSP00000282478:p.Asp586Gly		A8MUI0|O95815	Missense_Mutation	SNP	ENST00000282478.7	37	CCDS43248.1	.	.	.	.	.	.	.	.	.	.	A	2.127	-0.400045	0.04865	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.88975	-2.45;-2.45	3.69	3.69	0.42338	.	.	.	.	.	D	0.89022	0.6597	L	0.43923	1.385	0.24296	N	0.995148	D	0.64830	0.994	P	0.60609	0.877	T	0.78565	-0.2155	9	0.36615	T	0.2	.	5.9187	0.19070	0.874:0.0:0.126:0.0	.	586	Q9NZW4	DSPP_HUMAN	G	586	ENSP00000382213:D586G;ENSP00000282478:D586G	ENSP00000282478:D586G	D	+	2	0	DSPP	88754595	0.863000	0.29885	0.297000	0.24988	0.010000	0.07245	1.453000	0.35167	1.439000	0.47511	0.366000	0.22137	GAC		0.458	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		G	88535571	A	G	88535571	3	3	752	1	0	0	0	0	1	0	0	0	4784	275	10	3	1771	3	DSPP	4	88535571	Missense_Mutation	SNP	A	TCGA-KO-8411-01A-11D-2310-10	87516493	88535571	102618705	18	44278											
FAT1	2195	broad.mit.edu	37	4	187541479	187541479	+	Silent	SNP	G	G	A	rs532659201		TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr4:187541479G>A	ENST00000441802.2	-	10	6470	c.6261C>T	c.(6259-6261)taC>taT	p.Y2087Y		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2087	Cadherin 19. {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						TAACAACGGCGTAGTAGGGAA	0.498										HNSCC(5;0.00058)			G|||	1	0.000199681	0.0008	0.0	5008	,	,		19018	0.0		0.0	False		,,,				2504	0.0				Colon(197;1040 2055 4143 4984 49344)											0													171	164	166					4																	187541479		1982	4151	6133	SO:0001819	synonymous_variant	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.6261C>T	4.37:g.187541479G>A				Silent	SNP	ENST00000441802.2	37	CCDS47177.1																																																																																				0.498	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		A	187541479	G	A	187541479	2	1	752	1	0	0	0	0	0	0	0	1	5691	1140	40	1		1	FAT1	4	187541479	Silent	SNP	G	TCGA-KO-8411-01A-11D-2310-10	99005908	187541479	3612797	19	44279											
FRG1	2483	mdanderson.org	37	4	190876307	190876307	+	Splice_Site	SNP	G	G	A	rs200854715		TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr4:190876307G>A	ENST00000226798.4	+	5	654		c.e5+1		FRG1_ENST00000514482.1_Splice_Site	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1						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)		CTTTCAAAATGTAAGTGCTGT	0.328																																																0													74	74	74					4																	190876307		2202	4295	6497	SO:0001630	splice_region_variant	2483			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.432+1G>A	4.37:g.190876307G>A			A8K775	Splice_Site	SNP	ENST00000226798.4	37	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	N	18.80	3.700931	0.68501	.	.	ENSG00000109536	ENST00000226798;ENST00000531991	.	.	.	3.88	3.88	0.44766	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7779	0.63066	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FRG1	191113301	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	7.413000	0.80104	1.879000	0.54435	0.567000	0.79289	.		0.328	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477	Intron	A	190876307	G	A	190876307	5	1	752	1	0	0	0	0	0	0	1	0	6048	1391	48	2	451	2	FRG1	4	190876307	Splice_Site	SNP	G	TCGA-KO-8411-01A-11D-2310-10	3334828	190876307	277969	20	44280											
OXCT1	5019	bcgsc.ca	37	5	41794806	41794806	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr5:41794806C>T	ENST00000196371.5	-	12	1305	c.1145G>A	c.(1144-1146)aGc>aAc	p.S382N	OXCT1_ENST00000509987.1_Missense_Mutation_p.S196N|OXCT1_ENST00000512084.1_5'Flank|OXCT1_ENST00000510634.1_5'Flank|OXCT1_ENST00000513081.1_5'Flank	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1	382					adipose tissue development (GO:0060612)|brain development (GO:0007420)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cellular response to acid chemical (GO:0071229)|cellular response to glucose stimulus (GO:0071333)|heart development (GO:0007507)|ketone body catabolic process (GO:0046952)|ketone catabolic process (GO:0042182)|positive regulation of insulin secretion (GO:0032024)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hormone (GO:0009725)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-oxoacid CoA-transferase activity (GO:0008260)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	TGATTCATCGCTGGAGAAAAA	0.398																																																0													70	67	68					5																	41794806		2203	4300	6503	SO:0001583	missense	5019			U62961	CCDS3937.1	5p13	2008-02-05		2004-05-12	ENSG00000083720	ENSG00000083720			8527	protein-coding gene	gene with protein product		601424	"3-oxoacid CoA transferase"	OXCT		8751852	Standard	NM_000436		Approved	SCOT	uc003jmn.3	P55809	OTTHUMG00000094783	ENST00000196371.5:c.1145G>A	5.37:g.41794806C>T	ENSP00000196371:p.Ser382Asn		B2R5V2|B7Z528	Missense_Mutation	SNP	ENST00000196371.5	37	CCDS3937.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.011963	0.93346	.	.	ENSG00000083720	ENST00000196371;ENST00000509987	D;D	0.87729	-2.29;-2.29	5.84	5.84	0.93424	3-oxoacid CoA-transferase, subunit B (1);	0.079191	0.85682	D	0.000000	D	0.95981	0.8691	H	0.96489	3.83	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96810	0.9596	10	0.87932	D	0	-17.4734	18.9061	0.92462	0.0:1.0:0.0:0.0	.	382	P55809	SCOT1_HUMAN	N	382;196	ENSP00000196371:S382N;ENSP00000425348:S196N	ENSP00000196371:S382N	S	-	2	0	OXCT1	41830563	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.410000	0.80065	2.765000	0.95021	0.655000	0.94253	AGC		0.398	OXCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211594.2	NM_000436		T	41794806	C	T	41794806	3	4	752	1	0	0	0	0	1	0	0	0	11331	797	28	2	441	2	OXCT1	5	41794806	Missense_Mutation	SNP	C	TCGA-KO-8411-01A-11D-2310-10		41794806	139120454	21	44281											
SEMA6A	57556	mdanderson.org	37	5	115837967	115837967	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr5:115837967T>C	ENST00000343348.6	-	3	944	c.157A>G	c.(157-159)Agg>Ggg	p.R53G	SEMA6A_ENST00000257414.8_Missense_Mutation_p.R53G|SEMA6A_ENST00000510263.1_Missense_Mutation_p.R53G|SEMA6A_ENST00000503962.1_5'UTR|CTB-118N6.3_ENST00000510682.1_RNA	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	53	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)		AGCCTGTGCCTCTGTGTGGTG	0.498																																																0													249	247	248					5																	115837967		2049	4205	6254	SO:0001583	missense	57556			AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"Semaphorins"	10738	protein-coding gene	gene with protein product	"sema VIa"	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.157A>G	5.37:g.115837967T>C	ENSP00000345512:p.Arg53Gly		Q9P2H9	Missense_Mutation	SNP	ENST00000343348.6	37	CCDS47256.1	.	.	.	.	.	.	.	.	.	.	T	15.71	2.913512	0.52439	.	.	ENSG00000092421	ENST00000343348;ENST00000257414;ENST00000510263;ENST00000515009;ENST00000509665	T;T;T;T;T	0.29142	1.99;1.99;1.99;1.58;1.58	5.47	5.47	0.80525	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.049179	0.85682	D	0.000000	T	0.43055	0.1230	M	0.67953	2.075	0.80722	D	1	P;P	0.49696	0.881;0.927	B;P	0.48677	0.382;0.586	T	0.44952	-0.9294	10	0.72032	D	0.01	.	15.2197	0.73303	0.0:0.0:0.0:1.0	.	53;53	Q9H2E6;Q9H2E6-2	SEM6A_HUMAN;.	G	53	ENSP00000345512:R53G;ENSP00000257414:R53G;ENSP00000424388:R53G;ENSP00000421935:R53G;ENSP00000425553:R53G	ENSP00000257414:R53G	R	-	1	2	SEMA6A	115865866	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.895000	0.56258	2.082000	0.62665	0.528000	0.53228	AGG		0.498	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796		C	115837967	T	C	115837967	3	2	752	1	0	0	0	0	1	0	0	0	14045	1550	54	3	3003	3	SEMA6A	5	115837967	Missense_Mutation	SNP	T	TCGA-KO-8411-01A-11D-2310-10	74043161	115837967	65077293	22	44282											
SLC26A8	116369	ucsc.edu	37	6	35930387	35930387	+	Silent	SNP	A	A	G			TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr6:35930387A>G	ENST00000490799.1	-	12	1730	c.1377T>C	c.(1375-1377)gcT>gcC	p.A459A	SLC26A8_ENST00000394602.2_Silent_p.A354A|SLC26A8_ENST00000355574.2_Silent_p.A459A	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						GAATAATACCAGCCAGCACAG	0.458																																																0													113	99	104					6																	35930387		2203	4300	6503	SO:0001819	synonymous_variant	116369			AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"Solute carriers"	14468	protein-coding gene	gene with protein product		608480	"solute carrier family 26, member 8"			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.1377T>C	6.37:g.35930387A>G				Silent	SNP	ENST00000490799.1	37	CCDS4813.1																																																																																				0.458	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2			G	35930387	A	G	35930387	2	3	752	1	0	0	0	0	0	0	0	1	14529	175	7	3		3	SLC26A8	6	35930387	Silent	SNP	A	TCGA-KO-8411-01A-11D-2310-10		35930387	135184680	23	44283											
PKD1L1	168507	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	7	47968829	47968829	+	Silent	SNP	C	C	T			TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr7:47968829C>T	ENST00000289672.2	-	7	1082	c.1032G>A	c.(1030-1032)gcG>gcA	p.A344A		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	344					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						AGGCAGTCACCGCCATTGCCT	0.527																																																0													131	123	126					7																	47968829		2203	4300	6503	SO:0001819	synonymous_variant	168507			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"polycystin-1L1"	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.1032G>A	7.37:g.47968829C>T			Q6UWK1	Silent	SNP	ENST00000289672.2	37	CCDS34633.1																																																																																				0.527	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		T	47968829	C	T	47968829	2	4	752	1	0	0	0	0	0	0	0	1	11966	639	23	1		1	PKD1L1	7	47968829	Silent	SNP	C	TCGA-KO-8411-01A-11D-2310-10		47968829	111169834	24	44284											
POM121	9883	broad.mit.edu	37	7	72413476	72413477	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr7:72413476_72413477insC	ENST00000434423.2	+	11	2944_2945	c.2944_2945insC	c.(2944-2946)gccfs	p.A982fs	POM121_ENST00000358357.3_Frame_Shift_Ins_p.A717fs|POM121_ENST00000257622.4_Frame_Shift_Ins_p.A717fs|POM121_ENST00000395270.1_Frame_Shift_Ins_p.A717fs|POM121_ENST00000446813.1_Frame_Shift_Ins_p.A717fs			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	982	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)				GCCACCGGGGGCCGCCAAGCCG	0.653																																																0																																										SO:0001589	frameshift_variant	9883			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.2946dupC	7.37:g.72413478_72413478dupC	ENSP00000405562:p.Ala982fs		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Frame_Shift_Ins	INS	ENST00000434423.2	37																																																																																					0.653	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			C	72413477	-	C	72413476	7	5	752	1	0	1	1	0	0	0	0	0	12241	1203	42	0	2187	0	POM121	7	72413476	Frame_Shift_Ins	INS	-	TCGA-KO-8411-01A-11D-2310-10	24444647	72413476	86725187	25	44285											
GTF2IRD2	84163	mdanderson.org	37	7	74212075	74212075	+	Silent	SNP	G	G	T	rs2523348		TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr7:74212075G>T	ENST00000405086.2	-	16	1965	c.1776C>A	c.(1774-1776)ggC>ggA	p.G592G	GTF2IRD2_ENST00000451013.2_Silent_p.G139G	NM_173537.2	NP_775808	Q86UP8	GTD2A_HUMAN	GTF2I repeat domain containing 2	592					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						agatctcgttgccagattttg	0.507																																					NSCLC(40;560 1096 7501 40315 49546)											0													68	64	65					7																	74212075		2203	4299	6502	SO:0001819	synonymous_variant	84163			BC047706	CCDS5576.1, CCDS64682.1	7q11.23	2014-05-06			ENSG00000196275	ENSG00000196275			30775	protein-coding gene	gene with protein product	"transcription factor GTF2IRD2"	608899				15243160	Standard	NM_173537		Approved	FLJ37938, GTF2IRD2A	uc003ubd.1	Q86UP8	OTTHUMG00000181527	ENST00000405086.2:c.1776C>A	7.37:g.74212075G>T			A8K5W6|B3KUZ2|Q69G40|Q6EKI8|Q6EKI9|Q6NVW2|Q6P7N8|Q86WX4|Q8ND85|Q8NDE5	Silent	SNP	ENST00000405086.2	37	CCDS5576.1																																																																																				0.507	GTF2IRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252712.3	NM_173537		T	74212075	G	T	74212075	2	4	752	1	0	0	0	0	0	0	0	1	6871	1306	46	4		4	GTF2IRD2	7	74212075	Silent	SNP	G	TCGA-KO-8411-01A-11D-2310-10	1798599	74212075	84926588	26	44286											
AASS	10157	mdanderson.org	37	7	121773650	121773650	+	Missense_Mutation	SNP	G	G	C			TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr7:121773650G>C	ENST00000393376.1	-	1	226	c.131C>G	c.(130-132)cCc>cGc	p.P44R	AASS_ENST00000473553.1_Intron|AASS_ENST00000417368.2_Missense_Mutation_p.P44R			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	44	Lysine-ketoglutarate reductase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						GATGTGCTTGGGAGCTAGCGG	0.537																																																0													112	97	102					7																	121773650		2203	4300	6503	SO:0001583	missense	10157			AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.131C>G	7.37:g.121773650G>C	ENSP00000377040:p.Pro44Arg		O95462	Missense_Mutation	SNP	ENST00000393376.1	37	CCDS5783.1	.	.	.	.	.	.	.	.	.	.	.	26.0	4.699346	0.88830	.	.	ENSG00000008311	ENST00000393376;ENST00000417368	D;D	0.91521	-2.86;-2.86	5.18	5.18	0.71444	Alanine dehydrogenase/PNT, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97188	0.9081	H	0.97186	3.955	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98611	1.0663	10	0.87932	D	0	-13.2955	18.6875	0.91570	0.0:0.0:1.0:0.0	.	44	Q9UDR5	AASS_HUMAN	R	44	ENSP00000377040:P44R;ENSP00000403768:P44R	ENSP00000351834:P44R	P	-	2	0	AASS	121560886	1.000000	0.71417	0.932000	0.37286	0.883000	0.51084	9.771000	0.98977	2.390000	0.81377	0.557000	0.71058	CCC		0.537	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763		C	121773650	G	C	121773650	3	2	752	1	0	0	0	0	1	0	0	0	24	1232	43	4	2741	4	AASS	7	121773650	Missense_Mutation	SNP	G	TCGA-KO-8411-01A-11D-2310-10	47561575	121773650	37365013	27	44287											
GGH	8836	broad.mit.edu;bcgsc.ca	37	8	63942762	63942762	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr8:63942762T>C	ENST00000260118.6	-	3	641	c.239A>G	c.(238-240)gAg>gGg	p.E80G	GGH_ENST00000518113.1_5'UTR	NM_003878.2	NP_003869.1	Q92820	GGH_HUMAN	gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)	80	Gamma-glutamyl hydrolase. {ECO:0000255|PROSITE-ProRule:PRU00607}.				glutamine metabolic process (GO:0006541)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to insulin (GO:0032868)|response to zinc ion (GO:0010043)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	exopeptidase activity (GO:0008238)|gamma-glutamyl-peptidase activity (GO:0034722)|omega peptidase activity (GO:0008242)			breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1)	11	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)			Folic Acid(DB00158)|Methotrexate(DB00563)	ATAGTCTTTCTCTGTAAGATC	0.318																																																0													86	88	88					8																	63942762		2203	4293	6496	SO:0001583	missense	8836			U55206	CCDS6177.1	8q12.3	2008-02-05			ENSG00000137563	ENSG00000137563	3.4.19.9		4248	protein-coding gene	gene with protein product		601509				8816764, 10570974	Standard	NM_003878		Approved		uc003xuw.3	Q92820	OTTHUMG00000164365	ENST00000260118.6:c.239A>G	8.37:g.63942762T>C	ENSP00000260118:p.Glu80Gly			Missense_Mutation	SNP	ENST00000260118.6	37	CCDS6177.1	.	.	.	.	.	.	.	.	.	.	T	8.575	0.880955	0.17467	.	.	ENSG00000137563	ENST00000260118;ENST00000517622	T	0.46451	0.87	5.45	-1.69	0.08186	.	2.128780	0.01441	N	0.015086	T	0.39064	0.1064	M	0.72479	2.2	0.09310	N	1	P	0.36616	0.561	B	0.34301	0.179	T	0.13899	-1.0492	10	0.27082	T	0.32	-20.6927	4.3633	0.11213	0.1164:0.066:0.3632:0.4545	.	80	Q92820	GGH_HUMAN	G	80;41	ENSP00000260118:E80G	ENSP00000260118:E80G	E	-	2	0	GGH	64105316	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.045000	0.12003	-0.432000	0.07297	-0.316000	0.08728	GAG		0.318	GGH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378453.1			C	63942762	T	C	63942762	3	2	752	1	0	0	0	0	1	0	0	0	6359	1551	54	3	745	3	GGH	8	63942762	Missense_Mutation	SNP	T	TCGA-KO-8411-01A-11D-2310-10		63942762	82421260	28	44288											
PDP1	54704	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	8	94934838	94934838	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr8:94934838G>A	ENST00000297598.4	+	2	820	c.551G>A	c.(550-552)cGg>cAg	p.R184Q	PDP1_ENST00000520728.1_Missense_Mutation_p.R184Q|PDP1_ENST00000396200.3_Missense_Mutation_p.R209Q|PDP1_ENST00000517764.1_Missense_Mutation_p.R184Q	NM_001161781.1|NM_018444.3	NP_001155253.1|NP_060914.2	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	184					cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	[pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						GAGAGCGGCCGGGCACTGCTA	0.453																																																0													62	59	60					8																	94934838		2203	4300	6503	SO:0001583	missense	54704			AF155661	CCDS6259.1, CCDS55262.1	8q22.1	2012-04-17	2009-06-12	2009-06-12	ENSG00000164951	ENSG00000164951	3.1.3.43	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	9279	protein-coding gene	gene with protein product		605993	"protein phosphatase 2C, magnesium-dependent, catalytic subunit"	PPM2C		8396421	Standard	NM_001161779		Approved	PDP, PDH	uc003ygf.3	Q9P0J1		ENST00000297598.4:c.551G>A	8.37:g.94934838G>A	ENSP00000297598:p.Arg184Gln		B3KX71|J3KPU0|Q5U5K1	Missense_Mutation	SNP	ENST00000297598.4	37	CCDS6259.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.682500	0.68157	.	.	ENSG00000164951	ENST00000297598;ENST00000520728;ENST00000396200;ENST00000517764;ENST00000518827	T;T;T;T	0.45276	0.91;0.91;0.9;0.91	6.16	5.28	0.74379	Protein phosphatase 2C-like (3);	0.058183	0.64402	N	0.000002	T	0.40862	0.1134	L	0.53249	1.67	0.58432	D	0.999996	P;P	0.47409	0.895;0.895	B;B	0.39258	0.295;0.198	T	0.34850	-0.9812	10	0.40728	T	0.16	-8.858	17.6344	0.88118	0.0:0.1231:0.8769:0.0	.	235;184	B4DYX8;Q9P0J1	.;PDP1_HUMAN	Q	184;184;209;184;184	ENSP00000297598:R184Q;ENSP00000428317:R184Q;ENSP00000379503:R209Q;ENSP00000430380:R184Q	ENSP00000297598:R184Q	R	+	2	0	PDP1	95004014	1.000000	0.71417	0.957000	0.39632	0.969000	0.65631	7.989000	0.88205	1.604000	0.50143	-0.182000	0.12963	CGG		0.453	PDP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378415.2	NM_018444		A	94934838	G	A	94934838	3	1	752	1	0	0	0	0	1	0	0	0	11687	1116	39	1	734	1	PDP1	8	94934838	Missense_Mutation	SNP	G	TCGA-KO-8411-01A-11D-2310-10	30992076	94934838	51429184	29	44289											
TRPS1	7227	broad.mit.edu	37	8	116616283	116616283	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr8:116616283T>C	ENST00000220888.5	-	3	2033	c.1874A>G	c.(1873-1875)gAc>gGc	p.D625G	TRPS1_ENST00000519674.1_Missense_Mutation_p.D625G|TRPS1_ENST00000395715.3_Missense_Mutation_p.D638G|TRPS1_ENST00000519076.1_Intron|TRPS1_ENST00000520276.1_Missense_Mutation_p.D629G			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	625					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TACATCTACGTCAGGGGTGGT	0.517									Langer-Giedion syndrome																																							0													79	78	78					8																	116616283		2051	4198	6249	SO:0001583	missense	7227	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"GATA zinc finger domain containing", "Zinc fingers, C2H2-type"	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.1874A>G	8.37:g.116616283T>C	ENSP00000220888:p.Asp625Gly		B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37		.	.	.	.	.	.	.	.	.	.	T	16.00	2.999497	0.54147	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000520276;ENST00000519674	T;T;T;T	0.23950	1.88;1.88;1.88;1.88	5.77	5.77	0.91146	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.41119	0.1145	L	0.29908	0.895	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.994;0.998	T	0.31475	-0.9942	10	0.87932	D	0	.	16.3948	0.83586	0.0:0.0:0.0:1.0	.	629;625;638	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	G	638;625;629;625	ENSP00000379065:D638G;ENSP00000220888:D625G;ENSP00000428680:D629G;ENSP00000429174:D625G	ENSP00000220888:D625G	D	-	2	0	TRPS1	116685458	1.000000	0.71417	0.394000	0.26270	0.434000	0.31775	7.628000	0.83189	2.326000	0.78906	0.533000	0.62120	GAC		0.517	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		C	116616283	T	C	116616283	3	2	752	1	0	0	0	0	1	0	0	0	16598	1667	58	3	1987	3	TRPS1	8	116616283	Missense_Mutation	SNP	T	TCGA-KO-8411-01A-11D-2310-10	21681445	116616283	29747739	30	44290											
C9orf79	286234	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	9	90500482	90500482	+	Silent	SNP	C	C	T	rs199568188	byFrequency	TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr9:90500482C>T	ENST00000325643.5	+	4	1146	c.1080C>T	c.(1078-1080)gaC>gaT	p.D360D		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	360					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TCCACCCTGACGTGCAGAAGC	0.577													.|||	3	0.000599042	0.0	0.0	5008	,	,		18697	0.001		0.002	False		,,,				2504	0.0															0													65	64	64					9																	90500482		2203	4300	6503	SO:0001819	synonymous_variant	286234			AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 79", "family with sequence similarity 75, member E1"	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.1080C>T	9.37:g.90500482C>T			B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Silent	SNP	ENST00000325643.5	37	CCDS6676.1																																																																																				0.577	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		T	90500482	C	T	90500482	2	4	752	1	0	0	0	0	0	0	0	1	2499	535	19	1		1	C9orf79	9	90500482	Silent	SNP	C	TCGA-KO-8411-01A-11D-2310-10		90500482	50712949	31	44291											
LCN1	3933	mdanderson.org	37	9	138413982	138413982	+	Silent	SNP	G	G	A	rs150536266	byFrequency	TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr9:138413982G>A	ENST00000263598.2	+	2	240	c.180G>A	c.(178-180)acG>acA	p.T60T	LCN1_ENST00000371781.3_Silent_p.T60T	NM_001252617.1|NM_001252618.1|NM_001252619.1|NM_002297.3	NP_001239546.1|NP_001239547.1|NP_001239548.1|NP_002288.1	P31025	LCN1_HUMAN	lipocalin 1	60					negative regulation of endopeptidase activity (GO:0010951)|proteolysis (GO:0006508)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|sensory perception of taste (GO:0050909)|transport (GO:0006810)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)	13		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)		TGACCCTCACGACCCTGGAAG	0.612													G|||	14	0.00279553	0.0091	0.0	5008	,	,		17535	0.0		0.0	False		,,,				2504	0.002															0								G		11,4381		0,11,2185	13	12	12		180	-1.6	0	9	dbSNP_134	12	0,8564		0,0,4282	no	coding-synonymous	LCN1	NM_002297.2		0,11,6467	AA,AG,GG		0.0,0.2505,0.0849		60/177	138413982	11,12945	2196	4282	6478	SO:0001819	synonymous_variant	3933				CCDS6991.1	9q34	2011-11-14	2011-11-01		ENSG00000160349	ENSG00000160349		"Lipocalins"	6525	protein-coding gene	gene with protein product	"Von Ebner gland protein", "tear lipocalin", "lipocalin 1-like 2", "tear prealbumin"	151675	"lipocalin 1 (protein migrating faster than albumin, tear prealbumin)", "lipocalin 1 (tear prealbumin)"			8276406	Standard	NM_002297		Approved	VEGP, TP, PMFA, MGC71975, TLC	uc022bpk.1	P31025	OTTHUMG00000020908	ENST00000263598.2:c.180G>A	9.37:g.138413982G>A			Q5T8A1	Silent	SNP	ENST00000263598.2	37	CCDS6991.1																																																																																				0.612	LCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054992.1	NM_002297		A	138413982	G	A	138413982	2	1	752	1	0	0	0	0	0	0	0	1	8682	1045	37	1		1	LCN1	9	138413982	Silent	SNP	G	TCGA-KO-8411-01A-11D-2310-10	47913500	138413982	2799449	32	44292											
FAM21C	253725	mdanderson.org	37	10	46248649	46248649	+	Missense_Mutation	SNP	T	T	C	rs2610452	byFrequency	TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr10:46248649T>C	ENST00000336378.4	+	13	1262	c.1144T>C	c.(1144-1146)Tcc>Ccc	p.S382P	FAM21C_ENST00000374362.2_Missense_Mutation_p.S382P|FAM21C_ENST00000540872.1_Missense_Mutation_p.S382P|FAM21C_ENST00000537517.1_Missense_Mutation_p.S358P|FAM21C_ENST00000359860.4_Missense_Mutation_p.S326P	NM_015262.2	NP_056077.2	Q9Y4E1	FA21C_HUMAN	family with sequence similarity 21, member C	382				S -> P (in Ref. 4; AAI50612). {ECO:0000305}.	retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome (GO:0005768)|plasma membrane (GO:0005886)|WASH complex (GO:0071203)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						CACGGAAGCCTCCCAGGATCG	0.493													C|||	755	0.150759	0.1823	0.1196	5008	,	,		7906	0.1706		0.0944	False		,,,				2504	0.1677															0													50	54	53					10																	46248649		1176	3339	4515	SO:0001583	missense	253725				CCDS44374.1, CCDS44374.2, CCDS53528.1, CCDS53529.1	10q11.22	2014-05-09			ENSG00000172661	ENSG00000172661			23414	protein-coding gene	gene with protein product		613631				20498093	Standard	NM_015262		Approved	Em:AC012044.3, KIAA0592	uc001jcu.3	Q9Y4E1	OTTHUMG00000018089	ENST00000336378.4:c.1144T>C	10.37:g.46248649T>C	ENSP00000337541:p.Ser382Pro		B4DZQ6|B9EK53|F5H0J6|F5H871|Q5SQU4|Q5SQU5|Q7L521|Q9UG79	Missense_Mutation	SNP	ENST00000336378.4	37		66	0.03021978021978022	19	0.03861788617886179	7	0.019337016574585635	27	0.0472027972027972	13	0.017150395778364115	C	0.089	-1.169554	0.01660	.	.	ENSG00000172661	ENST00000336378;ENST00000540872;ENST00000537517;ENST00000374362;ENST00000399588;ENST00000359860;ENST00000436993	.	.	.	3.23	3.23	0.37069	.	0.311519	0.35096	N	0.003450	T	0.00906	0.0030	N	0.00436	-1.5	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.36480	-0.9746	9	0.02654	T	1	-3.2928	6.6596	0.23007	0.0:0.8641:0.0:0.1359	.	358;382;382;327	F5H871;Q9Y4E1-4;Q9Y4E1;Q9Y4E1-3	.;.;FA21C_HUMAN;.	P	382;382;358;382;382;326;294	.	ENSP00000337541:S382P	S	+	1	0	FAM21C	45568655	0.006000	0.16342	0.005000	0.12908	0.071000	0.16799	0.625000	0.24477	0.714000	0.32081	-0.176000	0.13171	TCC		0.493	FAM21C-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				C	46248649	T	C	46248649	3	2	752	1	0	0	0	0	1	0	0	0	5544	1551	54	3	1194	3	FAM21C	10	46248649	Missense_Mutation	SNP	T	TCGA-KO-8411-01A-11D-2310-10		46248649	89286098	33	44293											
SLIT1	6585	ucsc.edu;mdanderson.org;bcgsc.ca	37	10	98819913	98819913	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr10:98819913C>T	ENST00000266058.4	-	10	1189	c.944G>A	c.(943-945)cGc>cAc	p.R315H	SLIT1_ENST00000371070.4_Missense_Mutation_p.R315H|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371041.3_Missense_Mutation_p.R315H	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	315					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)		CAGCTCCAGGCGTCTGCGGGG	0.607																																																0													83	76	78					10																	98819913		2203	4300	6503	SO:0001583	missense	6585			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.944G>A	10.37:g.98819913C>T	ENSP00000266058:p.Arg315His		Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.611644	0.87258	.	.	ENSG00000187122	ENST00000266058;ENST00000371057;ENST00000371054;ENST00000371070;ENST00000314867;ENST00000456008;ENST00000371041	T;T;T;T	0.57273	1.84;1.84;0.67;0.41	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.61311	0.2337	N	0.17723	0.515	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.67440	-0.5670	10	0.87932	D	0	.	18.7943	0.91988	0.0:1.0:0.0:0.0	.	315;315	E7EWQ8;O75093	.;SLIT1_HUMAN	H	315;315;291;315;298;291;315	ENSP00000266058:R315H;ENSP00000360109:R315H;ENSP00000315005:R298H;ENSP00000360080:R315H	ENSP00000266058:R315H	R	-	2	0	SLIT1	98809903	1.000000	0.71417	1.000000	0.80357	0.598000	0.36846	7.197000	0.77814	2.464000	0.83262	0.561000	0.74099	CGC		0.607	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		T	98819913	C	T	98819913	3	4	752	1	0	0	0	0	1	0	0	0	14745	768	27	1	3772	1	SLIT1	10	98819913	Missense_Mutation	SNP	C	TCGA-KO-8411-01A-11D-2310-10	52571264	98819913	36714834	34	44294											
NEURL	9148	broad.mit.edu	37	10	105331354	105331354	+	Missense_Mutation	SNP	G	G	A	rs539510212		TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr10:105331354G>A	ENST00000369780.4	+	3	833	c.424G>A	c.(424-426)Gcc>Acc	p.A142T	NEURL_ENST00000369777.2_Missense_Mutation_p.A125T	NM_004210.4	NP_004201.3	O76050	NEUL1_HUMAN		142	NHR 1. {ECO:0000255|PROSITE- ProRule:PRU00400}.				brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|lactation (GO:0007595)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Notch signaling pathway (GO:0045746)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse maturation (GO:0090129)|protein monoubiquitination (GO:0006513)|skeletal muscle tissue development (GO:0007519)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)	apical dendrite (GO:0097440)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|translation factor activity, non-nucleic acid binding (GO:0045183)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		GCCCAAGTACGCCTGCCCCGA	0.632													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17124	0.0		0.0	False		,,,				2504	0.0															0													65	51	55					10																	105331354		2203	4300	6503	SO:0001583	missense	9148																														ENST00000369780.4:c.424G>A	10.37:g.105331354G>A	ENSP00000358795:p.Ala142Thr		Q5TDR2|Q5TDR3|Q8TAN0|Q9H463	Missense_Mutation	SNP	ENST00000369780.4	37	CCDS7551.1	.	.	.	.	.	.	.	.	.	.	G	32	5.151231	0.94645	.	.	ENSG00000107954	ENST00000369780;ENST00000437579;ENST00000369777;ENST00000455386	T;T	0.31247	1.5;1.5	5.69	5.69	0.88448	NEUZ (2);	0.000000	0.85682	D	0.000000	T	0.62490	0.2432	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.66348	-0.5946	10	0.62326	D	0.03	-17.5358	18.8032	0.92027	0.0:0.0:1.0:0.0	.	142	O76050	NEU1A_HUMAN	T	142;125;125;67	ENSP00000358795:A142T;ENSP00000358792:A125T	ENSP00000358792:A125T	A	+	1	0	NEURL	105321344	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.928000	0.87587	2.681000	0.91329	0.561000	0.74099	GCC		0.632	NEURL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050170.1			A	105331354	G	A	105331354	3	1	752	1	0	0	0	0	1	0	0	0	10347	1087	38	1	434	1	NEURL	10	105331354	Missense_Mutation	SNP	G	TCGA-KO-8411-01A-11D-2310-10	6511441	105331354	30203393	35	44295											
CTBP2	1488	bcgsc.ca	37	10	126715160	126715161	+	Intron	INS	-	-	GCCGCAGGCTGGGGCTGCAGG			TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr10:126715160_126715161insGCCGCAGGCTGGGGCTGCAGG	ENST00000337195.5	-	3	458				CTBP2_ENST00000309035.6_In_Frame_Ins_p.390_391insCSPSLRP|CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000411419.2_Intron	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2						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)		CTGCAGAGGAGCCGCAGCGCCC	0.698																																																0																																										SO:0001627	intron_variant	1488			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.58+12404->CCTGCAGCCCCAGCCTGCGGC	10.37:g.126715160_126715161insGCCGCAGGCTGGGGCTGCAGG			A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	In_Frame_Ins	INS	ENST00000337195.5	37	CCDS7643.1																																																																																				0.698	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	NM_001083914		GCCGCAGGCTGGGGCTGCAGG	126715161	-	GCCGCAGGCTGGGGCTGCAGG	126715160	6	5	752	0	1	1	1	0	0	0	0	0	4000	971	34	0		0	CTBP2	10	126715160	Intron	INS	-	TCGA-KO-8411-01A-11D-2310-10	21383806	126715160	8819587	36	44296											
MUC6	4588	mdanderson.org	37	11	1017679	1017679	+	Missense_Mutation	SNP	A	A	G	rs111294390	byFrequency	TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr11:1017679A>G	ENST00000421673.2	-	31	5172	c.5122T>C	c.(5122-5124)Tca>Cca	p.S1708P		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1708	Approximate repeats.|Thr-rich.				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)		GTAGAAGTTGAGGTGGCTTCA	0.542																																																0													671	663	666					11																	1017679		2200	4286	6486	SO:0001583	missense	4588			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.5122T>C	11.37:g.1017679A>G	ENSP00000406861:p.Ser1708Pro		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	a	1.190	-0.635554	0.03584	.	.	ENSG00000184956	ENST00000421673	T	0.24350	1.86	1.74	-3.47	0.04753	.	.	.	.	.	T	0.06645	0.0170	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13150	-1.0520	9	0.30078	T	0.28	.	0.4744	0.00537	0.3445:0.1183:0.2044:0.3327	.	1708	Q6W4X9	MUC6_HUMAN	P	1708	ENSP00000406861:S1708P	ENSP00000406861:S1708P	S	-	1	0	MUC6	1007679	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-3.120000	0.00595	-4.140000	0.00070	-0.883000	0.02948	TCA		0.542	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		G	1017679	A	G	1017679	3	3	752	1	0	0	0	0	1	0	0	0	9982	304	11	3	2209	3	MUC6	11	1017679	Missense_Mutation	SNP	A	TCGA-KO-8411-01A-11D-2310-10		1017679	133988837	37	44297											
MUC6	4588	mdanderson.org	37	11	1018271	1018271	+	Missense_Mutation	SNP	G	G	C			TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr11:1018271G>C	ENST00000421673.2	-	31	4580	c.4530C>G	c.(4528-4530)agC>agG	p.S1510R		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1510	Pro-rich.|Thr-rich.				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)		TGTGGGCTTGGCTGGTCCCAC	0.552																																																0													242	258	253					11																	1018271		2170	4268	6438	SO:0001583	missense	4588			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.4530C>G	11.37:g.1018271G>C	ENSP00000406861:p.Ser1510Arg		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	2.932	-0.220929	0.06061	.	.	ENSG00000184956	ENST00000421673	T	0.19669	2.13	2.41	-4.82	0.03171	.	.	.	.	.	T	0.14098	0.0341	L	0.55481	1.735	0.09310	N	1	P	0.38978	0.652	B	0.32724	0.151	T	0.01228	-1.1412	9	0.34782	T	0.22	.	5.8101	0.18462	0.5536:0.2513:0.1951:0.0	.	1510	Q6W4X9	MUC6_HUMAN	R	1510	ENSP00000406861:S1510R	ENSP00000406861:S1510R	S	-	3	2	MUC6	1008271	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.010000	0.03656	-2.668000	0.00415	-0.657000	0.03884	AGC		0.552	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		C	1018271	G	C	1018271	3	2	752	1	0	0	0	0	1	0	0	0	9982	1194	42	4	2801	4	MUC6	11	1018271	Missense_Mutation	SNP	G	TCGA-KO-8411-01A-11D-2310-10	592	1018271	133988245	38	44298											
MUC2	4583	hgsc.bcm.edu	37	11	1092845	1092845	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr11:1092845C>T	ENST00000441003.2	+	30	4691	c.4664C>T	c.(4663-4665)aCa>aTa	p.T1555I	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000359061.5_Missense_Mutation_p.T1556I|MUC2_ENST00000333592.6_5'Flank	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				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)	CCCACCGGCACACAGACCCCA	0.632																																																0													94	126	114					11																	1092845		1882	3484	5366	SO:0001583	missense	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.4664C>T	11.37:g.1092845C>T	ENSP00000415183:p.Thr1555Ile		Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	C	3.039	-0.197860	0.06219	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.13538	2.58;2.91	1.59	1.59	0.23543	.	7739.210000	0.00610	U	0.000401	T	0.10508	0.0257	.	.	.	0.09310	N	1	P	0.34699	0.464	B	0.24269	0.052	T	0.33369	-0.9871	9	0.42905	T	0.14	.	10.2908	0.43594	0.0:1.0:0.0:0.0	.	1555	E7EUV1	.	I	1555;1556	ENSP00000415183:T1555I;ENSP00000351956:T1556I	ENSP00000351956:T1556I	T	+	2	0	MUC2	1082845	0.000000	0.05858	0.001000	0.08648	0.338000	0.28826	0.112000	0.15479	0.906000	0.36621	0.109000	0.15622	ACA		0.632	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		T	1092845	C	T	1092845	3	4	752	1	0	0	0	0	1	0	0	0	9977	478	17	2	4782	2	MUC2	11	1092845	Missense_Mutation	SNP	C	TCGA-KO-8411-01A-11D-2310-10	74574	1092845	133913671	39	44299											
MYBPC3	4607	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	11	47356593	47356593	+	Splice_Site	SNP	G	G	A	rs397515992		TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr11:47356593G>A	ENST00000545968.1	-	27	2959	c.2905C>T	c.(2905-2907)Caa>Taa	p.Q969*	MYBPC3_ENST00000256993.4_Splice_Site_p.Q968*|MYBPC3_ENST00000399249.2_Splice_Site_p.Q969*	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	969					cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		GGGCACTCACGCAGGATCTCC	0.642																																																0			GRCh37	CM981328	MYBPC3	M							27	32	31					11																	47356593		1984	4157	6141	SO:0001630	splice_region_variant	4607			X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7551	protein-coding gene	gene with protein product		600958	"myosin-binding protein C, cardiac"	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.2905+1C>T	11.37:g.47356593G>A			A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Nonsense_Mutation	SNP	ENST00000545968.1	37	CCDS53621.1	.	.	.	.	.	.	.	.	.	.	G	38	6.868535	0.97897	.	.	ENSG00000134571	ENST00000545968;ENST00000399249;ENST00000256993	.	.	.	5.16	3.14	0.36123	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.1437	0.54012	0.0743:0.1318:0.7939:0.0	.	.	.	.	X	969;969;968	.	.	Q	-	1	0	MYBPC3	47313169	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	3.648000	0.54410	1.185000	0.42971	0.455000	0.32223	CAA		0.642	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3		Nonsense_Mutation	A	47356593	G	A	47356593	5	1	752	1	0	0	0	0	0	0	1	0	10015	1101	38	1	951	1	MYBPC3	11	47356593	Splice_Site	SNP	G	TCGA-KO-8411-01A-11D-2310-10	46263748	47356593	87649923	40	44300											
KRTAP5-10	387273	mdanderson.org	37	11	71276725	71276725	+	Missense_Mutation	SNP	A	A	G	rs201471375	byFrequency	TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr11:71276725A>G	ENST00000398531.1	+	1	117	c.92A>G	c.(91-93)tAt>tGt	p.Y31C	KRTAP5-10_ENST00000376536.4_Missense_Mutation_p.Y31C	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	31						keratin filament (GO:0045095)				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						TGTGGGGGCTATGGCTCTGGC	0.677																																																0																																										SO:0001583	missense	387273			AB126079	CCDS41684.1	11q13.4	2008-02-05			ENSG00000204572	ENSG00000204572		"Keratin associated proteins"	23605	protein-coding gene	gene with protein product						15144888	Standard	NM_001012710		Approved	KRTAP5.10	uc001oqt.1	Q6L8G5	OTTHUMG00000057585	ENST00000398531.1:c.92A>G	11.37:g.71276725A>G	ENSP00000381542:p.Tyr31Cys		B9EHA4	Missense_Mutation	SNP	ENST00000398531.1	37	CCDS41684.1	.	.	.	.	.	.	.	.	.	.	g	4.044	0.005740	0.07866	.	.	ENSG00000204572	ENST00000398531;ENST00000376536	T;T	0.00856	5.61;5.85	1.67	1.67	0.24075	.	.	.	.	.	T	0.00271	0.0008	N	0.00031	-2.595	0.20638	N	0.999878	B	0.02656	0.0	B	0.01281	0.0	T	0.46816	-0.9164	9	0.48119	T	0.1	.	4.2372	0.10632	0.3976:0.0:0.6024:0.0	.	31	Q6L8G5	KR510_HUMAN	C	31	ENSP00000381542:Y31C;ENSP00000365719:Y31C	ENSP00000365719:Y31C	Y	+	2	0	KRTAP5-10	70954373	0.001000	0.12720	0.866000	0.34008	0.119000	0.20118	-1.171000	0.03115	0.049000	0.15920	-0.473000	0.04963	TAT		0.677	KRTAP5-10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000127968.2			G	71276725	A	G	71276725	3	3	752	1	0	0	0	0	1	0	0	0	8561	449	16	3	94	3	KRTAP5-10	11	71276725	Missense_Mutation	SNP	A	TCGA-KO-8411-01A-11D-2310-10	23920132	71276725	63729791	41	44301											
ARHGEF17	9828	mdanderson.org	37	11	73020389	73020389	+	Missense_Mutation	SNP	A	A	T			TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr11:73020389A>T	ENST00000263674.3	+	1	1056	c.706A>T	c.(706-708)Atc>Ttc	p.I236F	RP11-800A3.7_ENST00000546324.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	236					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CTCCTCCTCCATCGCCGCCTC	0.677																																																0													12	15	14					11																	73020389		2048	3983	6031	SO:0001583	missense	9828			AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"Rho guanine nucleotide exchange factors"	21726	protein-coding gene	gene with protein product	"Rho-specific guanine-nucleotide exchange factor 164 kDa", "tumor endothelial marker 4"					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.706A>T	11.37:g.73020389A>T	ENSP00000263674:p.Ile236Phe		B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	ENST00000263674.3	37	CCDS8221.1	.	.	.	.	.	.	.	.	.	.	A	12.21	1.870463	0.33069	.	.	ENSG00000110237	ENST00000263674	T	0.59638	0.25	4.61	0.695	0.18070	.	0.993735	0.08148	N	0.990484	T	0.35480	0.0933	N	0.24115	0.695	0.19775	N	0.999951	P	0.35982	0.531	B	0.24394	0.053	T	0.25117	-1.0141	10	0.54805	T	0.06	-1.1385	5.2264	0.15397	0.6445:0.1573:0.1981:0.0	.	236	Q96PE2	ARHGH_HUMAN	F	236	ENSP00000263674:I236F	ENSP00000263674:I236F	I	+	1	0	ARHGEF17	72698037	0.000000	0.05858	0.765000	0.31456	0.926000	0.56050	-0.104000	0.10923	0.647000	0.30713	0.379000	0.24179	ATC		0.677	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		T	73020389	A	T	73020389	3	4	752	1	0	0	0	0	1	0	0	0	900	217	8	5	708	5	ARHGEF17	11	73020389	Missense_Mutation	SNP	A	TCGA-KO-8411-01A-11D-2310-10	1743664	73020389	61986127	42	44302											
ATN1	1822	mdanderson.org	37	12	7045906	7045906	+	Silent	SNP	G	G	A	rs377147612		TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr12:7045906G>A	ENST00000356654.4	+	5	1713	c.1476G>A	c.(1474-1476)caG>caA	p.Q492Q	ATN1_ENST00000396684.2_Silent_p.Q492Q	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	492	Poly-Gln.				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						agcagcagcagcagcagcagc	0.647																																																0													43	53	49					12																	7045906		2188	4263	6451	SO:0001819	synonymous_variant	1822			U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"dentatorubral-pallidoluysian atrophy (atrophin-1)"	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.1476G>A	12.37:g.7045906G>A			Q99495|Q99621|Q9UEK7	Silent	SNP	ENST00000356654.4	37	CCDS31734.1																																																																																				0.647	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		A	7045906	G	A	7045906	2	1	752	1	0	0	0	0	0	0	0	1	1111	962	34	2		2	ATN1	12	7045906	Silent	SNP	G	TCGA-KO-8411-01A-11D-2310-10		7045906	126805989	43	44303											
CLEC9A	283420	hgsc.bcm.edu;mdanderson.org	37	12	10205356	10205356	+	Silent	SNP	C	C	T			TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr12:10205356C>T	ENST00000355819.1	+	4	683	c.70C>T	c.(70-72)Ctg>Ttg	p.L24L	CLEC9A_ENST00000544751.1_3'UTR	NM_207345.2	NP_997228.1	Q6UXN8	CLC9A_HUMAN	C-type lectin domain family 9, member A	24					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						CCAGAAATGTCTGTCTTCCAA	0.403																																																0													106	101	103					12																	10205356		2203	4300	6503	SO:0001819	synonymous_variant	283420				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.70C>T	12.37:g.10205356C>T			B0ZBM2	Silent	SNP	ENST00000355819.1	37	CCDS8611.1																																																																																				0.403	CLEC9A-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000399564.1	NM_207345		T	10205356	C	T	10205356	2	4	752	1	0	0	0	0	0	0	0	1	3524	912	32	2		2	CLEC9A	12	10205356	Silent	SNP	C	TCGA-KO-8411-01A-11D-2310-10	3159450	10205356	123646539	44	44304											
EPS8	2059	broad.mit.edu;hgsc.bcm.edu	37	12	15784389	15784392	+	Frame_Shift_Del	DEL	TTGT	TTGT	-			TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	TTGT	TTGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr12:15784389_15784392delTTGT	ENST00000281172.5	-	18	2464_2467	c.2028_2031delACAA	c.(2026-2031)aaacaafs	p.KQ676fs	EPS8_ENST00000542903.1_Frame_Shift_Del_p.KQ416fs|EPS8_ENST00000540613.1_Frame_Shift_Del_p.KQ416fs|EPS8_ENST00000543612.1_Frame_Shift_Del_p.KQ676fs|EPS8_ENST00000543523.1_Frame_Shift_Del_p.KQ676fs	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	676	Effector region. {ECO:0000250}.				actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|actin filament bundle assembly (GO:0051017)|actin polymerization-dependent cell motility (GO:0070358)|adult locomotory behavior (GO:0008344)|barbed-end actin filament capping (GO:0051016)|behavioral response to ethanol (GO:0048149)|cell proliferation (GO:0008283)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|exit from mitosis (GO:0010458)|positive regulation of signal transduction (GO:0009967)|Rac protein signal transduction (GO:0016601)|regulation of actin filament length (GO:0030832)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|ruffle membrane (GO:0032587)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actin binding (GO:0003779)|Rac GTPase binding (GO:0048365)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		CCACCGGAAGTTGTTTGTGTCTCT	0.441																																																0																																										SO:0001589	frameshift_variant	2059			U12535	CCDS31753.1	12p12.3	2008-05-02				ENSG00000151491			3420	protein-coding gene	gene with protein product		600206				8084614	Standard	NM_004447		Approved		uc001rdb.3	Q12929		ENST00000281172.5:c.2028_2031delACAA	12.37:g.15784393_15784396delTTGT	ENSP00000281172:p.Lys676fs		A6NMC3|A8K6W2|A8KA66|B4DX66|Q8N6J0	Frame_Shift_Del	DEL	ENST00000281172.5	37	CCDS31753.1																																																																																				0.441	EPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401093.1			-	15784392	TTGT	-	15784389	7	5	752	1	0	1	0	1	0	0	0	0	5196	1722	60	0	453	0	EPS8	12	15784389	Frame_Shift_Del	DEL	TTGT	TCGA-KO-8411-01A-11D-2310-10	5579033	15784389	118067506	45	44305	455	2									
EPS8	2059	bcgsc.ca	37	12	15784390	15784393	+	Frame_Shift_Del	DEL	TTGT	TTGT	-			TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	TTGT	TTGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr12:15784390_15784393delTTGT	ENST00000281172.5	-	18	2463_2466	c.2027_2030delACAA	c.(2026-2031)aacaaafs	p.NK676fs	EPS8_ENST00000542903.1_Frame_Shift_Del_p.NK416fs|EPS8_ENST00000540613.1_Frame_Shift_Del_p.NK416fs|EPS8_ENST00000543612.1_Frame_Shift_Del_p.NK676fs|EPS8_ENST00000543523.1_Frame_Shift_Del_p.NK676fs	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	676	Effector region. {ECO:0000250}.				actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|actin filament bundle assembly (GO:0051017)|actin polymerization-dependent cell motility (GO:0070358)|adult locomotory behavior (GO:0008344)|barbed-end actin filament capping (GO:0051016)|behavioral response to ethanol (GO:0048149)|cell proliferation (GO:0008283)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|exit from mitosis (GO:0010458)|positive regulation of signal transduction (GO:0009967)|Rac protein signal transduction (GO:0016601)|regulation of actin filament length (GO:0030832)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|ruffle membrane (GO:0032587)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actin binding (GO:0003779)|Rac GTPase binding (GO:0048365)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		CACCGGAAGTTGTTTGTGTCTCTG	0.446																																																0																																										SO:0001589	frameshift_variant	2059			U12535	CCDS31753.1	12p12.3	2008-05-02				ENSG00000151491			3420	protein-coding gene	gene with protein product		600206				8084614	Standard	NM_004447		Approved		uc001rdb.3	Q12929		ENST00000281172.5:c.2027_2030delACAA	12.37:g.15784390_15784393delTTGT	ENSP00000281172:p.Asn676fs		A6NMC3|A8K6W2|A8KA66|B4DX66|Q8N6J0	Frame_Shift_Del	DEL	ENST00000281172.5	37	CCDS31753.1																																																																																				0.446	EPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401093.1			-	15784393	TTGT	-	15784390	7	5	752	1	0	1	0	1	0	0	0	0	5196	1812	63	0	454	0	EPS8	12	15784390	Frame_Shift_Del	DEL	TTGT	TCGA-KO-8411-01A-11D-2310-10	1	15784390	118067505	46	44306	455	2									
SLC4A8	9498	broad.mit.edu	37	12	51868965	51868966	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr12:51868965_51868966insG	ENST00000453097.2	+	16	2364_2365	c.2147_2148insG	c.(2146-2151)aagacgfs	p.T717fs	SLC4A8_ENST00000514353.3_Frame_Shift_Ins_p.T664fs|SLC4A8_ENST00000358657.3_Frame_Shift_Ins_p.T744fs|SLC4A8_ENST00000394856.1_Frame_Shift_Ins_p.T664fs	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)		AAGACGTTTAAGACGAGCCGTT	0.446																																																0																																										SO:0001589	frameshift_variant	9498			AB018282	CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1	12q13.13	2013-05-22			ENSG00000050438	ENSG00000050438		"Solute carriers"	11034	protein-coding gene	gene with protein product		605024				11133997	Standard	NM_001039960		Approved	NBC3	uc001rys.2	Q2Y0W8	OTTHUMG00000169489	ENST00000453097.2:c.2148dupG	12.37:g.51868966_51868966dupG	ENSP00000405812:p.Thr717fs			Frame_Shift_Ins	INS	ENST00000453097.2	37	CCDS44890.1																																																																																				0.446	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404356.1	NM_004858		G	51868966	-	G	51868965	7	5	752	1	0	1	1	0	0	0	0	0	14665	72	3	0	2209	0	SLC4A8	12	51868965	Frame_Shift_Ins	INS	-	TCGA-KO-8411-01A-11D-2310-10	36084575	51868965	81982930	47	44307											
MARCH9	92979	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	12	58152575	58152575	+	Silent	SNP	C	C	T			TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr12:58152575C>T	ENST00000266643.5	+	4	1367	c.936C>T	c.(934-936)cgC>cgT	p.R312R	MARCH9_ENST00000548358.1_Silent_p.R199R	NM_138396.5	NP_612405.2	Q86YJ5	MARH9_HUMAN	membrane-associated ring finger (C3HC4) 9	312					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)			TGCCTCAGCGCTGCGGTTATA	0.657																																																0													28	29	28					12																	58152575		2203	4300	6503	SO:0001819	synonymous_variant	92979			BC009489	CCDS31847.1	12q14.1	2013-01-09				ENSG00000139266		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	25139	protein-coding gene	gene with protein product		613336				14722266	Standard	NM_138396		Approved	RNF179, FLJ36578	uc001spx.2	Q86YJ5		ENST00000266643.5:c.936C>T	12.37:g.58152575C>T			B2R9U9|Q86VN5|Q96GG2	Silent	SNP	ENST00000266643.5	37	CCDS31847.1																																																																																				0.657	MARCH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409244.1	NM_138396		T	58152575	C	T	58152575	2	4	752	1	0	0	0	0	0	0	0	1	9310	784	28	2		2	MARCH9	12	58152575	Silent	SNP	C	TCGA-KO-8411-01A-11D-2310-10	6283610	58152575	75699320	48	44308											
PPFIA2	8499	broad.mit.edu	37	12	81675147	81675147	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr12:81675147A>G	ENST00000549396.1	-	27	3261	c.3101T>C	c.(3100-3102)tTa>tCa	p.L1034S	PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000443686.3_Missense_Mutation_p.L929S|PPFIA2_ENST00000541570.2_Missense_Mutation_p.L570S|PPFIA2_ENST00000550359.2_Missense_Mutation_p.L881S|PPFIA2_ENST00000541017.1_Missense_Mutation_p.L220S|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000552948.1_Missense_Mutation_p.L1013S|PPFIA2_ENST00000550584.2_Missense_Mutation_p.L1034S|PPFIA2_ENST00000407050.4_Missense_Mutation_p.L933S|PPFIA2_ENST00000333447.7_Missense_Mutation_p.L1019S|PPFIA2_ENST00000549325.1_Missense_Mutation_p.L1019S|PPFIA2_ENST00000548586.1_Missense_Mutation_p.L1028S	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	1034	SAM 2. {ECO:0000255|PROSITE- ProRule:PRU00184}.				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						GTACTGAGGTAACCCCAAGCT	0.393																																																0													115	110	111					12																	81675147		1840	4113	5953	SO:0001583	missense	8499			AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"Sterile alpha motif (SAM) domain containing"	9246	protein-coding gene	gene with protein product	"Liprin-alpha2"	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.3101T>C	12.37:g.81675147A>G	ENSP00000450337:p.Leu1034Ser		B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	CCDS55857.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.5|23.5	4.428353|4.428353	0.83667|0.83667	.|.	.|.	ENSG00000139220|ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000541017;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948|ENST00000550018	T;T;T;T;T;T;T;T;T|.	0.62788|.	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0|.	5.51|5.51	5.51|5.51	0.81932|0.81932	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);|.	0.000000|.	0.64402|.	D|.	0.000003|.	D|D	0.85353|0.85353	0.5677|0.5677	M|M	0.92367|0.92367	3.3|3.3	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	D|D	0.88989|0.88989	0.3413|0.3413	10|5	0.87932|.	D|.	0|.	-8.0075|-8.0075	15.9105|15.9105	0.79470|0.79470	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1034|.	O75334|.	LIPA2_HUMAN|.	S|H	1034;1019;570;220;933;1045;1019;1028;929;1013|137	ENSP00000450337:L1034S;ENSP00000450298:L1019S;ENSP00000438337:L570S;ENSP00000445532:L220S;ENSP00000385093:L933S;ENSP00000327416:L1019S;ENSP00000449338:L1028S;ENSP00000388373:L929S;ENSP00000447868:L1013S|.	ENSP00000327416:L1019S|.	L|Y	-|-	2|1	0|0	PPFIA2|PPFIA2	80199278|80199278	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	9.221000|9.221000	0.95188|0.95188	2.220000|2.220000	0.72140|0.72140	0.454000|0.454000	0.30748|0.30748	TTA|TAC		0.393	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			G	81675147	A	G	81675147	3	3	752	1	0	0	0	0	1	0	0	0	12312	372	13	3	696	3	PPFIA2	12	81675147	Missense_Mutation	SNP	A	TCGA-KO-8411-01A-11D-2310-10	23522572	81675147	52176748	49	44309											
RILPL1	353116	broad.mit.edu	37	12	123957223	123957223	+	Missense_Mutation	SNP	G	G	T			TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr12:123957223G>T	ENST00000376874.4	-	7	1309	c.1074C>A	c.(1072-1074)agC>agA	p.S358R	RILPL1_ENST00000544468.1_Missense_Mutation_p.S31R|SNRNP35_ENST00000527158.2_3'UTR|RILPL1_ENST00000340724.6_Missense_Mutation_p.S238R	NM_178314.3	NP_847884.2	Q5EBL4	RIPL1_HUMAN	Rab interacting lysosomal protein-like 1	358					epithelial cell morphogenesis (GO:0003382)|intracellular protein transport (GO:0006886)|regulation of neuron death (GO:1901214)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)		p.S358R(3)		endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197)		GGGAGAAGAAGCTAAACCTTT	0.498																																																3	Substitution - Missense(3)	kidney(2)|endometrium(1)											65	63	63					12																	123957223		1944	4154	6098	SO:0001583	missense	353116			AK097550	CCDS45006.1	12q24.31	2007-11-27			ENSG00000188026	ENSG00000188026			26814	protein-coding gene	gene with protein product		614092				14668488	Standard	NM_178314		Approved	FLJ39378	uc001ufe.2	Q5EBL4	OTTHUMG00000168686	ENST00000376874.4:c.1074C>A	12.37:g.123957223G>T	ENSP00000366070:p.Ser358Arg		Q66K36|Q8N1M0	Missense_Mutation	SNP	ENST00000376874.4	37	CCDS45006.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.028945	0.75504	.	.	ENSG00000188026	ENST00000376874;ENST00000340724;ENST00000544468	T;T;T	0.27720	1.65;1.65;1.65	5.47	4.47	0.54385	.	.	.	.	.	T	0.37892	0.1020	L	0.29908	0.895	0.51767	D	0.999936	D;D	0.89917	1.0;0.997	D;D	0.85130	0.997;0.991	T	0.11717	-1.0576	9	0.49607	T	0.09	-0.9352	6.5327	0.22336	0.2105:0.0:0.7895:0.0	.	358;207	Q5EBL4;Q5EBL4-3	RIPL1_HUMAN;.	R	358;238;31	ENSP00000366070:S358R;ENSP00000345874:S238R;ENSP00000442991:S31R	ENSP00000345874:S238R	S	-	3	2	RILPL1	122523176	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.403000	0.44530	2.566000	0.86566	0.655000	0.94253	AGC		0.498	RILPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400595.1	NM_178314		T	123957223	G	T	123957223	3	4	752	1	0	0	0	0	1	0	0	0	13367	962	34	4	141	4	RILPL1	12	123957223	Missense_Mutation	SNP	G	TCGA-KO-8411-01A-11D-2310-10	42282076	123957223	9894672	50	44310											
XPO4	64328	broad.mit.edu	37	13	21373326	21373326	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr13:21373326G>A	ENST00000255305.6	-	16	2371	c.2300C>T	c.(2299-2301)aCc>aTc	p.T767I	XPO4_ENST00000400602.2_Missense_Mutation_p.T767I			Q9C0E2	XPO4_HUMAN	exportin 4	767					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)		CTGCTGTTTGGTTTCTGTGTC	0.443																																																0													252	246	248					13																	21373326		1919	4139	6058	SO:0001583	missense	64328			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.2300C>T	13.37:g.21373326G>A	ENSP00000255305:p.Thr767Ile		Q5VUZ5|Q8N3V6|Q9H934	Missense_Mutation	SNP	ENST00000255305.6	37	CCDS41872.1	.	.	.	.	.	.	.	.	.	.	G	13.77	2.336919	0.41398	.	.	ENSG00000132953	ENST00000400602;ENST00000456108;ENST00000255305	T;T	0.54479	0.57;0.57	5.98	5.98	0.97165	Armadillo-type fold (1);	0.145132	0.64402	D	0.000008	T	0.42899	0.1223	L	0.29908	0.895	0.51767	D	0.999936	B	0.13145	0.007	B	0.08055	0.003	T	0.16928	-1.0386	10	0.38643	T	0.18	-14.1782	15.5733	0.76356	0.0673:0.0:0.9327:0.0	.	767	Q9C0E2	XPO4_HUMAN	I	767;637;767	ENSP00000383444:T767I;ENSP00000255305:T767I	ENSP00000255305:T767I	T	-	2	0	XPO4	20271326	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.526000	0.81920	2.835000	0.97688	0.650000	0.86243	ACC		0.443	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044096.1	NM_022459		A	21373326	G	A	21373326	3	1	752	1	0	0	0	0	1	0	0	0	17451	1261	44	2	1187	2	XPO4	13	21373326	Missense_Mutation	SNP	G	TCGA-KO-8411-01A-11D-2310-10		21373326	93796552	51	44311											
CDH24	64403	broad.mit.edu	37	14	23522739	23522739	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr14:23522739C>T	ENST00000267383.5	-	6	1284	c.1192G>A	c.(1192-1194)Gcg>Acg	p.A398T	CDH24_ENST00000554034.1_Missense_Mutation_p.A398T|CDH24_ENST00000487137.2_Missense_Mutation_p.A398T|CDH24_ENST00000397359.3_Missense_Mutation_p.A398T			Q86UP0	CAD24_HUMAN	cadherin 24, type 2	398	Cadherin 4. {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)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		AGGTCAGCCGCGGAGATCTGG	0.632																																																0													34	32	33					14																	23522739		2203	4300	6503	SO:0001583	missense	64403			AL137477	CCDS9585.1, CCDS9586.1	14q11.2	2010-08-20	2009-11-20		ENSG00000139880	ENSG00000139880		"Cadherins / Major cadherins"	14265	protein-coding gene	gene with protein product			"cadherin-like 24"			12734196	Standard	NM_022478		Approved	CDH11L	uc001wil.3	Q86UP0	OTTHUMG00000028715	ENST00000267383.5:c.1192G>A	14.37:g.23522739C>T	ENSP00000267383:p.Ala398Thr		D3DS44|Q86UP1|Q9NT84	Missense_Mutation	SNP	ENST00000267383.5	37	CCDS9585.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.431928	0.83776	.	.	ENSG00000139880	ENST00000397359;ENST00000487137;ENST00000554034;ENST00000267383	T;T;T;T	0.61392	0.11;0.11;0.11;0.11	5.39	5.39	0.77823	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.84611	0.5510	H	0.96662	3.86	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	0.89350	0.3660	10	0.87932	D	0	.	18.0965	0.89492	0.0:1.0:0.0:0.0	.	398;398;398	Q86UP0-2;Q96LQ7;Q86UP0	.;.;CAD24_HUMAN	T	398	ENSP00000380517:A398T;ENSP00000434821:A398T;ENSP00000452493:A398T;ENSP00000267383:A398T	ENSP00000267383:A398T	A	-	1	0	CDH24	22592579	1.000000	0.71417	0.218000	0.23776	0.425000	0.31504	7.383000	0.79741	2.804000	0.96469	0.655000	0.94253	GCG		0.632	CDH24-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257241.2	NM_022478		T	23522739	C	T	23522739	3	4	752	1	0	0	0	0	1	0	0	0	3111	768	27	1	1295	1	CDH24	14	23522739	Missense_Mutation	SNP	C	TCGA-KO-8411-01A-11D-2310-10		23522739	83826801	52	44312											
EXOC5	10640	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	14	57675499	57675499	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr14:57675499T>C	ENST00000413566.2	-	18	2314	c.1955A>G	c.(1954-1956)cAt>cGt	p.H652R	EXOC5_ENST00000340918.7_Missense_Mutation_p.H587R	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN	exocyst complex component 5	652					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|vesicle docking (GO:0048278)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						ATCAAAAAGATGTAATACCAT	0.343																																																0													45	44	44					14																	57675499		1835	4072	5907	SO:0001583	missense	10640			U85946	CCDS45111.1	14q22.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000070367	ENSG00000070367			10696	protein-coding gene	gene with protein product		604469	"SEC10 (S. cerevisiae)-like 1", "SEC10-like 1 (S. cerevisiae)"	SEC10L1		9119050	Standard	XM_005267272		Approved	SEC10, SEC10P	uc001xct.3	O00471	OTTHUMG00000171309	ENST00000413566.2:c.1955A>G	14.37:g.57675499T>C	ENSP00000389934:p.His652Arg		B2R6C5	Missense_Mutation	SNP	ENST00000413566.2	37	CCDS45111.1	.	.	.	.	.	.	.	.	.	.	T	16.25	3.070861	0.55539	.	.	ENSG00000070367	ENST00000413566;ENST00000340918	T;T	0.40476	1.04;1.03	5.54	5.54	0.83059	.	0.050800	0.85682	D	0.000000	T	0.25717	0.0626	N	0.08118	0	0.48901	D	0.999727	B;B	0.11235	0.001;0.004	B;B	0.16722	0.003;0.016	T	0.07635	-1.0762	10	0.22706	T	0.39	-6.9907	15.6841	0.77396	0.0:0.0:0.0:1.0	.	587;652	F8W9B8;O00471	.;EXOC5_HUMAN	R	652;587	ENSP00000389934:H652R;ENSP00000342100:H587R	ENSP00000342100:H587R	H	-	2	0	EXOC5	56745252	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.036000	0.88901	2.103000	0.63969	0.477000	0.44152	CAT		0.343	EXOC5-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412905.1	NM_006544		C	57675499	T	C	57675499	3	2	752	1	0	0	0	0	1	0	0	0	5309	1464	51	3	175	3	EXOC5	14	57675499	Missense_Mutation	SNP	T	TCGA-KO-8411-01A-11D-2310-10	34152760	57675499	49674041	53	44313											
C14orf135	64430	broad.mit.edu	37	14	60581861	60581861	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr14:60581861C>T	ENST00000406854.1	+	4	1593	c.1039C>T	c.(1039-1041)Ccg>Tcg	p.P347S	PCNXL4_ENST00000404681.2_Missense_Mutation_p.P347S|PCNXL4_ENST00000317623.4_Missense_Mutation_p.P113S|PCNXL4_ENST00000406949.1_Missense_Mutation_p.P113S			Q63HM2	PCX4_HUMAN	pecanex-like 4 (Drosophila)	347						integral component of membrane (GO:0016021)											ACCCAGTGGTCCGGAAAAACA	0.383																																																0													142	124	130					14																	60581861		1841	4086	5927	SO:0001583	missense	64430			AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773			20349	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 135"	C14orf135			Standard	NM_022495		Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.1039C>T	14.37:g.60581861C>T	ENSP00000384801:p.Pro347Ser		A8MXM2|Q9BQG8|Q9H9F2	Missense_Mutation	SNP	ENST00000406854.1	37		.	.	.	.	.	.	.	.	.	.	C	0.715	-0.785530	0.02907	.	.	ENSG00000126773	ENST00000317623;ENST00000406854;ENST00000406949;ENST00000404681	T;T;T;T	0.21932	1.99;1.99;1.98;1.99	5.4	1.81	0.25067	.	.	.	.	.	T	0.05686	0.0149	N	0.00801	-1.175	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.40776	-0.9545	9	0.09338	T	0.73	.	8.6417	0.33981	0.0:0.3241:0.0:0.6759	.	347;113	Q63HM2;B5MC47	CN135_HUMAN;.	S	113;347;113;347	ENSP00000317396:P113S;ENSP00000384801:P347S;ENSP00000385201:P113S;ENSP00000385713:P347S	ENSP00000317396:P113S	P	+	1	0	C14orf135	59651614	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.548000	0.23314	0.445000	0.26639	-0.379000	0.06801	CCG		0.383	PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000317847.1	NM_022495		T	60581861	C	T	60581861	3	4	752	1	0	0	0	0	1	0	0	0	1747	855	30	2	343	2	C14orf135	14	60581861	Missense_Mutation	SNP	C	TCGA-KO-8411-01A-11D-2310-10	2906362	60581861	46767679	54	44314											
FAM174B	400451	mdanderson.org	37	15	93198687	93198688	+	Missense_Mutation	DNP	GA	GA	CC	rs200080757		TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	GA	GA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr15:93198687_93198688GA>CC	ENST00000327355.5	-	1	500_501	c.202_203TC>GG	c.(202-204)TCc>GGc	p.S68G	FAM174B_ENST00000555696.1_5'Flank|FAM174B_ENST00000555748.1_5'Flank	NM_207446.2	NP_997329.2	Q3ZCQ3	F174B_HUMAN	family with sequence similarity 174, member B	68				Missing (in Ref. 1; BAC11703 and 3; AAH60873). {ECO:0000305}.		integral component of membrane (GO:0016021)				endometrium(2)|lung(1)	3						GTTGGAGCTGGAGCTGCCGCTG	0.723																																																0																																										SO:0001583	missense	400451				CCDS45355.1	15q26.1	2012-10-03			ENSG00000185442	ENSG00000185442			34339	protein-coding gene	gene with protein product							Standard	NM_207446		Approved	LOC400451, MGC102891	uc010boe.3	Q3ZCQ3	OTTHUMG00000171744	ENST00000327355.5:c.202_203delinsCC	15.37:g.93198687_93198688delinsCC	ENSP00000329040:p.Ser68Gly		Q3ZCR9|Q8NBH7	Missense_Mutation	DNP	ENST00000327355.5	37	CCDS45355.1																																																																																				0.723	FAM174B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414931.1	NM_207446		CC	93198688	GA	CC	93198687	3	2	752	1	0	0	0	0	1	0	0	0	5498	1174	41	4	288	4	FAM174B	15	93198687	Missense_Mutation	DNP	GA	TCGA-KO-8411-01A-11D-2310-10		93198687	9332705	55	44315											
CFDP1	10428	broad.mit.edu	37	16	75448501	75448501	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr16:75448501delT	ENST00000283882.3	-	2	289	c.157delA	c.(157-159)agafs	p.R53fs	RP11-77K12.1_ENST00000567194.1_Frame_Shift_Del_p.R110fs|RP11-77K12.1_ENST00000561887.1_Intron|CFDP1_ENST00000564286.1_5'UTR	NM_006324.2	NP_006315.1	Q9UEE9	CFDP1_HUMAN	craniofacial development protein 1	53	Glu-rich.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|negative regulation of fibroblast apoptotic process (GO:2000270)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)					endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5						TGGGCCTTTCTTTTTTTCCCT	0.443																																																0													210	192	198					16																	75448501		2198	4300	6498	SO:0001589	frameshift_variant	10428			AB009285	CCDS10916.1	16q22.2-q22.3	2011-08-12			ENSG00000153774	ENSG00000153774			1873	protein-coding gene	gene with protein product	"Bucentaur", "centromere protein 29"	608108				9602175, 9006920, 11992732	Standard	NM_006324		Approved	BCNT, p97, CP27, SWC5, Yeti, CENP-29	uc002fdy.3	Q9UEE9	OTTHUMG00000137615	ENST00000283882.3:c.157delA	16.37:g.75448501delT	ENSP00000283882:p.Arg53fs		O00393|O00404|Q9UEF0|Q9UEF1|Q9UEF8	Frame_Shift_Del	DEL	ENST00000283882.3	37	CCDS10916.1																																																																																				0.443	CFDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269031.2	NM_006324		-	75448501	T	-	75448501	7	5	752	1	0	1	0	1	0	0	0	0	3284	1617	56	0	766	0	CFDP1	16	75448501	Frame_Shift_Del	DEL	T	TCGA-KO-8411-01A-11D-2310-10		75448501	14906252	56	44316											
BPTF	2186	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	17	65960371	65960371	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr17:65960371C>T	ENST00000321892.4	+	27	8744	c.8683C>T	c.(8683-8685)Cgc>Tgc	p.R2895C	BPTF_ENST00000335221.5_Missense_Mutation_p.R2752C|BPTF_ENST00000306378.6_Missense_Mutation_p.R2769C|BPTF_ENST00000424123.3_Missense_Mutation_p.R2613C			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2895					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)			GTACCATGGGCGCTGCGTTGG	0.463																																																0													149	141	144					17																	65960371		2203	4300	6503	SO:0001583	missense	2186			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"Zinc fingers, PHD-type"	3581	protein-coding gene	gene with protein product		601819	"fetal Alzheimer antigen"	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.8683C>T	17.37:g.65960371C>T	ENSP00000315454:p.Arg2895Cys		Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37		.	.	.	.	.	.	.	.	.	.	C	16.81	3.225135	0.58668	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892;ENST00000342579	D;D;D	0.84873	-1.91;-1.91;-1.91	5.91	5.91	0.95273	.	.	.	.	.	D	0.93844	0.8031	M	0.86573	2.825	0.80722	D	1	B;P;D;D	0.89917	0.44;0.714;1.0;1.0	B;B;D;D	0.87578	0.122;0.271;0.998;0.998	D	0.93970	0.7248	9	0.87932	D	0	-5.0974	20.3011	0.98612	0.0:1.0:0.0:0.0	.	100;573;2769;2752	E9PE19;B4DJV8;Q12830-2;Q12830-4	.;.;.;.	C	2769;2752;2895;100	ENSP00000307208:R2769C;ENSP00000334351:R2752C;ENSP00000315454:R2895C	ENSP00000307208:R2769C	R	+	1	0	BPTF	63390833	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.770000	0.85390	2.809000	0.96659	0.555000	0.69702	CGC		0.463	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		T	65960371	C	T	65960371	3	4	752	1	0	0	0	0	1	0	0	0	1497	768	27	1	8789	1	BPTF	17	65960371	Missense_Mutation	SNP	C	TCGA-KO-8411-01A-11D-2310-10		65960371	15234839	57	44317											
ONECUT2	9480	hgsc.bcm.edu;ucsc.edu	37	18	55143925	55143925	+	Silent	SNP	G	G	A			TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr18:55143925G>A	ENST00000491143.2	+	2	1517	c.1485G>A	c.(1483-1485)tcG>tcA	p.S495S		NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	495					cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|epithelial cell development (GO:0002064)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ morphogenesis (GO:0009887)|peripheral nervous system neuron development (GO:0048935)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)	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(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		GGGGCTCCTCGTCCACCTCCA	0.552																																																0													29	32	31					18																	55143925		2068	4222	6290	SO:0001819	synonymous_variant	9480			Y18198	CCDS42440.1	18q21.31	2012-03-09	2007-07-16		ENSG00000119547	ENSG00000119547		"Homeoboxes / CUT class"	8139	protein-coding gene	gene with protein product		604894	"one cut domain, family member 2"			9915796	Standard	NM_004852		Approved	OC-2	uc002lgo.3	O95948	OTTHUMG00000159776	ENST00000491143.2:c.1485G>A	18.37:g.55143925G>A				Silent	SNP	ENST00000491143.2	37	CCDS42440.1	.	.	.	.	.	.	.	.	.	.	G	8.243	0.807355	0.16467	.	.	ENSG00000119547	ENST00000481727	.	.	.	5.9	-3.69	0.04450	.	.	.	.	.	T	0.37999	0.1024	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37079	-0.9721	4	.	.	.	-11.4231	1.3888	0.02246	0.3881:0.1988:0.2581:0.1549	.	.	.	.	I	124	.	.	V	+	1	0	ONECUT2	53294923	0.000000	0.05858	0.835000	0.33067	0.998000	0.95712	-2.337000	0.01104	-0.394000	0.07727	0.650000	0.86243	GTC		0.552	ONECUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357264.3			A	55143925	G	A	55143925	2	1	752	1	0	0	0	0	0	0	0	1	10871	1132	40	1		1	ONECUT2	18	55143925	Silent	SNP	G	TCGA-KO-8411-01A-11D-2310-10		55143925	22933323	58	44318											
POLRMT	5442	mdanderson.org	37	19	622336	622336	+	Missense_Mutation	SNP	T	T	G	rs2238549	byFrequency	TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr19:622336T>G	ENST00000588649.2	-	9	1748	c.1664A>C	c.(1663-1665)gAg>gCg	p.E555A	LLNLR-299G3.1_ENST00000607288.1_RNA	NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	555			E -> A (in dbSNP:rs2238549).		gene expression (GO:0010467)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		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)		CGCCCCCAGCTCCTCCCAGTA	0.736													G|||	3107	0.620407	0.7421	0.3905	5008	,	,		13238	0.5804		0.505	False		,,,				2504	0.7791															0								G	ALA/GLU	2180,1784		674,832,476	3	4	4		1664	0.8	0.2	19	dbSNP_98	4	3162,4714		735,1692,1511	no	missense	POLRMT	NM_005035.3	107	1409,2524,1987	GG,GT,TT		40.1473,45.005,45.1182	benign	555/1231	622336	5342,6498	1982	3938	5920	SO:0001583	missense	5442				CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	2.7.7.6		9200	protein-coding gene	gene with protein product		601778				9097968	Standard	NM_005035		Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.1664A>C	19.37:g.622336T>G	ENSP00000465759:p.Glu555Ala		O60370	Missense_Mutation	SNP	ENST00000588649.2	37	CCDS12036.1	1206	0.5521978021978022	355	0.7215447154471545	157	0.43370165745856354	311	0.5437062937062938	383	0.5052770448548812	.	0.101	-1.151710	0.01700	0.54995	0.401473	ENSG00000099821	ENST00000215591	T	0.38887	1.11	4.15	0.782	0.18567	.	1.028080	0.07721	N	0.943661	T	0.00012	0.0000	N	0.00483	-1.445	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.39563	-0.9608	9	0.07175	T	0.84	-7.4541	3.713	0.08427	0.2656:0.0:0.3311:0.4033	rs2238549;rs60424827	555	O00411	RPOM_HUMAN	A	555	ENSP00000215591:E555A	ENSP00000215591:E555A	E	-	2	0	POLRMT	573336	0.000000	0.05858	0.177000	0.23020	0.499000	0.33736	0.188000	0.17018	-0.062000	0.13088	-0.217000	0.12591	GAG		0.736	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452172.3	NM_005035		G	622336	T	G	622336	3	3	752	1	0	0	0	0	1	0	0	0	12240	1551	54	5	2080	5	POLRMT	19	622336	Missense_Mutation	SNP	T	TCGA-KO-8411-01A-11D-2310-10		622336	58506647	59	44319											
ADAMTSL5	339366	bcgsc.ca	37	19	1506881	1506881	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr19:1506881A>G	ENST00000413997.2	-	10	928	c.929T>C	c.(928-930)cTc>cCc	p.L310P	ADAMTSL5_ENST00000590562.1_5'UTR|CTB-25B13.9_ENST00000590252.1_RNA|ADAMTSL5_ENST00000330475.4_Missense_Mutation_p.L300P|ADAMTSL5_ENST00000395467.2_Missense_Mutation_p.L69P			Q6ZMM2	ATL5_HUMAN	ADAMTS-like 5	310						extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		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)		CTCCCGAGGGAGCCAGAACTC	0.697																																																0													19	25	24					19																	1506881		1819	3754	5573	SO:0001583	missense	339366			BC040620	CCDS12071.1	19p13.3	2008-02-05	2006-02-07	2006-02-07		ENSG00000185761			27912	protein-coding gene	gene with protein product			"thrombospondin, type I, domain containing 6"	THSD6			Standard	NM_213604		Approved		uc002ltd.2	Q6ZMM2		ENST00000413997.2:c.929T>C	19.37:g.1506881A>G	ENSP00000399364:p.Leu310Pro		B4DXK7|Q8IW95	Missense_Mutation	SNP	ENST00000413997.2	37		.	.	.	.	.	.	.	.	.	.	A	18.89	3.719079	0.68844	.	.	ENSG00000185761	ENST00000413997;ENST00000330475;ENST00000395467	T;T;T	0.56941	0.43;0.43;0.43	4.05	4.05	0.47172	ADAM-TS Spacer 1 (1);	0.000000	0.64402	D	0.000002	T	0.70692	0.3253	M	0.82193	2.58	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.72459	-0.4287	10	0.48119	T	0.1	.	9.3042	0.37865	1.0:0.0:0.0:0.0	.	310;300	B4DXK7;Q6ZMM2	.;ATL5_HUMAN	P	310;300;69	ENSP00000399364:L310P;ENSP00000327608:L300P;ENSP00000378850:L69P	ENSP00000327608:L300P	L	-	2	0	ADAMTSL5	1457881	1.000000	0.71417	0.996000	0.52242	0.787000	0.44495	6.470000	0.73558	1.702000	0.51228	0.397000	0.26171	CTC		0.697	ADAMTSL5-202	KNOWN	basic	protein_coding	protein_coding		XM_294919		G	1506881	A	G	1506881	3	3	752	1	0	0	0	0	1	0	0	0	278	304	11	3	528	3	ADAMTSL5	19	1506881	Missense_Mutation	SNP	A	TCGA-KO-8411-01A-11D-2310-10	884545	1506881	57622102	60	44320											
MUC16	94025	mdanderson.org	37	19	8999421	8999421	+	Missense_Mutation	SNP	G	G	C	rs75266616		TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr19:8999421G>C	ENST00000397910.4	-	56	40957	c.40754C>G	c.(40753-40755)aCc>aGc	p.T13585S	MUC16_ENST00000380951.5_Missense_Mutation_p.T226S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13587	SEA 10. {ECO:0000255|PROSITE- ProRule:PRU00188}.			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						CCTGTCCAGGGTGTAGGGGCC	0.567																																																0													247	206	219					19																	8999421		2072	4221	6293	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.40754C>G	19.37:g.8999421G>C	ENSP00000381008:p.Thr13585Ser		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	12.18|12.18	1.861742|1.861742	0.32884|0.32884	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000542240|ENST00000397910;ENST00000380951	.|T;T	.|0.24538	.|1.85;1.85	3.48|3.48	1.25|1.25	0.21368|0.21368	.|SEA (1);	.|.	.|.	.|.	.|.	T|T	0.35740|0.35740	0.0942|0.0942	.|.	.|.	.|.	.|.	.|.	.|.	.|B;P	.|0.48911	.|0.114;0.917	.|B;D	.|0.63488	.|0.031;0.915	T|T	0.40403|0.40403	-0.9565|-0.9565	3|7	.|0.30854	.|T	.|0.27	.|.	4.5034|4.5034	0.11876|0.11876	0.1321:0.2319:0.6359:0.0|0.1321:0.2319:0.6359:0.0	.|.	.|21230;13585	.|Q8WXI7;B5ME49	.|MUC16_HUMAN;.	A|S	425|13585;226	.|ENSP00000381008:T13585S;ENSP00000370338:T226S	.|ENSP00000370338:T226S	P|T	-|-	1|2	0|0	MUC16|MUC16	8860421|8860421	0.991000|0.991000	0.36638|0.36638	0.997000|0.997000	0.53966|0.53966	0.497000|0.497000	0.33675|0.33675	0.218000|0.218000	0.17622|0.17622	0.783000|0.783000	0.33636|0.33636	0.555000|0.555000	0.69702|0.69702	CCC|ACC		0.567	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		C	8999421	G	C	8999421	3	2	752	1	0	0	0	0	1	0	0	0	9975	1261	44	4	2885	4	MUC16	19	8999421	Missense_Mutation	SNP	G	TCGA-KO-8411-01A-11D-2310-10	7492540	8999421	50129562	61	44321											
ZC3H4	23211	mdanderson.org	37	19	47575243	47575243	+	Silent	SNP	T	T	A	rs392366		TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr19:47575243T>A	ENST00000253048.5	-	13	1975	c.1938A>T	c.(1936-1938)gcA>gcT	p.A646A	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	646	Pro-rich.						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)		cgtgcatgtctgcgtgcatgt	0.662																																																0								C		1,4247		0,1,2123	31	36	34		1938	-10.4	0	19	dbSNP_80	34	6,8510		0,6,4252	no	coding-synonymous	ZC3H4	NM_015168.1		0,7,6375	AA,AT,TT		0.0705,0.0235,0.0548		646/1304	47575243	7,12757	2124	4258	6382	SO:0001819	synonymous_variant	23211			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.1938A>T	19.37:g.47575243T>A			Q9Y420	Silent	SNP	ENST00000253048.5	37	CCDS42582.1																																																																																				0.662	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			A	47575243	T	A	47575243	2	1	752	1	0	0	0	0	0	0	0	1	17575	1567	55	5		5	ZC3H4	19	47575243	Silent	SNP	T	TCGA-KO-8411-01A-11D-2310-10	38575822	47575243	11553740	62	44322											
ZNF836	162962	broad.mit.edu;ucsc.edu;mdanderson.org	37	19	52660555	52660555	+	Silent	SNP	A	A	G			TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr19:52660555A>G	ENST00000322146.8	-	5	902	c.381T>C	c.(379-381)caT>caC	p.H127H	ZNF836_ENST00000597252.1_Silent_p.H127H|CTC-471J1.8_ENST00000594362.1_RNA	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	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)			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CCTCTTGACTATGTTGACCTC	0.333																																																0													115	108	111					19																	52660555		1986	4198	6184	SO:0001819	synonymous_variant	162962			BC011784	CCDS46162.1	19q13.33	2013-01-08			ENSG00000196267	ENSG00000196267		"Zinc fingers, C2H2-type", "-"	34333	protein-coding gene	gene with protein product							Standard	NM_001102657		Approved	FLJ16287	uc010ydj.2	Q6ZNA1		ENST00000322146.8:c.381T>C	19.37:g.52660555A>G				Silent	SNP	ENST00000322146.8	37	CCDS46162.1																																																																																				0.333	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462456.1	NM_001102657		G	52660555	A	G	52660555	2	3	752	1	0	0	0	0	0	0	0	1	18192	446	16	3		3	ZNF836	19	52660555	Silent	SNP	A	TCGA-KO-8411-01A-11D-2310-10	5085312	52660555	6468428	63	44323											
VN1R4	317703	mdanderson.org	37	19	53770825	53770825	+	Missense_Mutation	SNP	A	A	G	rs141780644		TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr19:53770825A>G	ENST00000311170.4	-	1	147	c.94T>C	c.(94-96)Ttt>Ctt	p.F32L	CTD-2245F17.9_ENST00000599803.1_lincRNA	NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	32					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		GTGCAGTAAAAGGAGAGATAA	0.507										HNSCC(26;0.072)																																						0													55	60	58					19																	53770825		2203	4300	6503	SO:0001583	missense	317703			AY114733	CCDS33099.1	19q13.42	2012-08-22			ENSG00000228567	ENSG00000228567		"Vomeronasal receptors / Type 1", "GPCR / Unclassified : Vomeronasal receptors, type 1"	19871	protein-coding gene	gene with protein product						12123587	Standard	NM_173857		Approved	V1RL4	uc010ydu.2	Q7Z5H5		ENST00000311170.4:c.94T>C	19.37:g.53770825A>G	ENSP00000310856:p.Phe32Leu		Q2M3E2|Q7Z5H6|Q7Z5H7|Q8TDU2	Missense_Mutation	SNP	ENST00000311170.4	37	CCDS33099.1	.	.	.	.	.	.	.	.	.	.	A	3.164	-0.171426	0.06421	.	.	ENSG00000228567	ENST00000311170	T	0.34072	1.38	2.28	-3.47	0.04753	GPCR, rhodopsin-like superfamily (1);	0.000000	0.30575	N	0.009335	T	0.09862	0.0242	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25676	-1.0125	10	0.02654	T	1	.	1.5772	0.02626	0.1176:0.3229:0.2328:0.3268	.	32	Q7Z5H5	VN1R4_HUMAN	L	32	ENSP00000310856:F32L	ENSP00000310856:F32L	F	-	1	0	VN1R4	58462637	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.898000	0.04105	-0.609000	0.05724	-3.182000	0.00056	TTT		0.507	VN1R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464287.1	NM_173857		G	53770825	A	G	53770825	3	3	752	1	0	0	0	0	1	0	0	0	17185	72	3	3	814	3	VN1R4	19	53770825	Missense_Mutation	SNP	A	TCGA-KO-8411-01A-11D-2310-10	1110270	53770825	5358158	64	44324											
ADAMTS1	9510	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	21	28216883	28216883	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr21:28216883C>T	ENST00000284984.3	-	1	845	c.391G>A	c.(391-393)Ggc>Agc	p.G131S		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	131					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)		CTGGGATCGCCATTCACGGTG	0.697											OREG0026151	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													15	17	17					21																	28216883		2197	4298	6495	SO:0001583	missense	9510			AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"ADAM metallopeptidases with thrombospondin type 1 motif"	217	protein-coding gene	gene with protein product		605174	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.391G>A	21.37:g.28216883C>T	ENSP00000284984:p.Gly131Ser	800	D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Missense_Mutation	SNP	ENST00000284984.3	37	CCDS33524.1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.340968	0.41498	.	.	ENSG00000154734	ENST00000284984	T	0.09255	3.0	4.16	3.26	0.37387	Peptidase M12B, propeptide (1);	.	.	.	.	T	0.14356	0.0347	L	0.58302	1.8	0.47698	D	0.999493	B	0.18968	0.032	B	0.30943	0.122	T	0.04333	-1.0959	9	0.24483	T	0.36	.	13.7507	0.62906	0.0:0.6866:0.3134:0.0	.	131	Q9UHI8	ATS1_HUMAN	S	131	ENSP00000284984:G131S	ENSP00000284984:G131S	G	-	1	0	ADAMTS1	27138754	0.932000	0.31603	0.559000	0.28332	0.430000	0.31655	1.404000	0.34623	0.935000	0.37341	0.555000	0.69702	GGC		0.697	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171650.2			T	28216883	C	T	28216883	3	4	752	1	0	0	0	0	1	0	0	0	255	594	21	2	2548	2	ADAMTS1	21	28216883	Missense_Mutation	SNP	C	TCGA-KO-8411-01A-11D-2310-10		28216883	19913012	65	44325											
KRTAP10-10	353333	mdanderson.org	37	21	46057625	46057625	+	Silent	SNP	T	T	C	rs66931310|rs56249559|rs55677560	byFrequency	TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr21:46057625T>C	ENST00000380095.1	+	1	353	c.291T>C	c.(289-291)ccT>ccC	p.P97P	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	97	15 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						gctgtgtgcctgtctgctgtg	0.622																																																0													82	79	80					21																	46057625		2132	4094	6226	SO:0001819	synonymous_variant	353333			AJ566387	CCDS33585.1	21q22.3	2006-03-13			ENSG00000221859	ENSG00000221859		"Keratin associated proteins"	22972	protein-coding gene	gene with protein product							Standard	NM_181688		Approved	KAP10.10, KAP18.10, KRTAP18-10	uc002zfq.3	P60014	OTTHUMG00000057631	ENST00000380095.1:c.291T>C	21.37:g.46057625T>C				Silent	SNP	ENST00000380095.1	37	CCDS33585.1																																																																																				0.622	KRTAP10-10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128034.1	NM_181688		C	46057625	T	C	46057625	2	2	752	1	0	0	0	0	0	0	0	1	8508	1567	55	3		3	KRTAP10-10	21	46057625	Silent	SNP	T	TCGA-KO-8411-01A-11D-2310-10	17840742	46057625	2072270	66	44326	456	2									
KRTAP10-10	353333	mdanderson.org	37	21	46057634	46057634	+	Silent	SNP	T	T	C	rs61029972	byFrequency	TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr21:46057634T>C	ENST00000380095.1	+	1	362	c.300T>C	c.(298-300)tgT>tgC	p.C100C	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	100	15 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						ctgtctgctgtgtgcccgtct	0.632													C|||	539	0.107628	0.2383	0.0591	5008	,	,		18755	0.0109		0.0557	False		,,,				2504	0.1186															0													126	121	123					21																	46057634		2203	4298	6501	SO:0001819	synonymous_variant	353333			AJ566387	CCDS33585.1	21q22.3	2006-03-13			ENSG00000221859	ENSG00000221859		"Keratin associated proteins"	22972	protein-coding gene	gene with protein product							Standard	NM_181688		Approved	KAP10.10, KAP18.10, KRTAP18-10	uc002zfq.3	P60014	OTTHUMG00000057631	ENST00000380095.1:c.300T>C	21.37:g.46057634T>C				Silent	SNP	ENST00000380095.1	37	CCDS33585.1																																																																																				0.632	KRTAP10-10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128034.1	NM_181688		C	46057634	T	C	46057634	2	2	752	1	0	0	0	0	0	0	0	1	8508	1702	59	3		3	KRTAP10-10	21	46057634	Silent	SNP	T	TCGA-KO-8411-01A-11D-2310-10	9	46057634	2072261	67	44327	456	2									
CXorf36	79742	bcgsc.ca	37	X	45010908	45010908	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chrX:45010908C>T	ENST00000398000.2	-	5	1365	c.1291G>A	c.(1291-1293)Gat>Aat	p.D431N	CXorf36_ENST00000477281.1_5'UTR	NM_176819.3	NP_789789.2	Q9H7Y0	DIA1R_HUMAN	chromosome X open reading frame 36	431						extracellular region (GO:0005576)				endometrium(1)|large_intestine(2)|lung(4)	7						CAGAACTTATCGTTATATTTG	0.527																																																0													95	84	88					X																	45010908		1568	3582	5150	SO:0001583	missense	79742			AF289581	CCDS14266.1, CCDS48096.1	Xp11.3-p11.23	2012-08-03			ENSG00000147113	ENSG00000147113			25866	protein-coding gene	gene with protein product						11944989, 21283809	Standard	NM_176819		Approved	FLJ14103, DIA1R	uc004dgg.2	Q9H7Y0	OTTHUMG00000021403	ENST00000398000.2:c.1291G>A	X.37:g.45010908C>T	ENSP00000381086:p.Asp431Asn		A8MUU5|B2RPN7|Q6UWJ5	Missense_Mutation	SNP	ENST00000398000.2	37	CCDS48096.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.053779	0.55218	.	.	ENSG00000147113	ENST00000398000	T	0.36520	1.25	5.24	4.38	0.52667	.	0.404164	0.23272	N	0.050001	T	0.36635	0.0974	M	0.67953	2.075	0.80722	D	1	B	0.26845	0.161	B	0.19391	0.025	T	0.22661	-1.0210	10	0.72032	D	0.01	.	11.4036	0.49885	0.0:0.914:0.0:0.086	.	431	Q9H7Y0	CX036_HUMAN	N	431	ENSP00000381086:D431N	ENSP00000381086:D431N	D	-	1	0	CXorf36	44895852	0.997000	0.39634	0.684000	0.30055	0.530000	0.34684	2.903000	0.48711	0.996000	0.38943	0.594000	0.82650	GAT		0.527	CXorf36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056333.2	NM_024689		T	45010908	C	T	45010908	3	4	752	1	0	0	0	0	1	0	0	0	4108	884	31	1	14	1	CXorf36	23	45010908	Missense_Mutation	SNP	C	TCGA-KO-8411-01A-11D-2310-10		45010908	110259652	68	44328											
NBPF10	100132406	ucsc.edu	37	1	145302775	145302775	+	Missense_Mutation	SNP	T	T	G	rs376014420		TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr1:145302775T>G	ENST00000369339.3	+	5	653	c.400T>G	c.(400-402)Tat>Gat	p.Y134D	NBPF10_ENST00000369338.1_Missense_Mutation_p.Y134D|NBPF10_ENST00000342960.5_Missense_Mutation_p.Y405D|RP11-458D21.5_ENST00000468030.1_3'UTR			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	405						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)		CCTCACTCCGTATGAGCCGGA	0.577																																																0																																										SO:0001583	missense	100132406			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.400T>G	1.37:g.145302775T>G	ENSP00000358345:p.Tyr134Asp		Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369339.3	37		.	.	.	.	.	.	.	.	.	.	.	0	-2.664813	0.00107	.	.	ENSG00000163386	ENST00000448873;ENST00000369338;ENST00000369334;ENST00000342960	T;T	0.46063	0.88;4.33	0.712	-0.91	0.10511	.	.	.	.	.	T	0.03390	0.0098	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33189	-0.9878	7	0.02654	T	1	.	.	.	.	.	134	A8MQ30	.	D	330;134;134;405	ENSP00000358344:Y134D;ENSP00000345684:Y405D	ENSP00000345684:Y405D	Y	+	1	0	NBPF10	144014132	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.464000	0.06688	-1.158000	0.02811	-1.371000	0.01190	TAT		0.577	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		G	145302775	T	G	145302775	3	3	753	1	0	0	0	0	1	0	0	0	10195	1638	57	5	1243	5	NBPF10	1	145302775	Missense_Mutation	SNP	T	TCGA-KO-8413-01A-11D-2310-10		145302775	103947846	1	44329											
FAM163A	148753	broad.mit.edu	37	1	179782953	179782953	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr1:179782953G>A	ENST00000341785.4	+	5	529	c.133G>A	c.(133-135)Gag>Aag	p.E45K	RP11-12M5.3_ENST00000453051.1_RNA|RP11-12M5.3_ENST00000415218.1_RNA	NM_173509.2	NP_775780.1	Q96GL9	F163A_HUMAN	family with sequence similarity 163, member A	45						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)	15						GGTTGCAGACGAGGAGGAGGA	0.642																																																0													51	46	48					1																	179782953		2203	4300	6503	SO:0001583	missense	148753			BC009382	CCDS1333.1	1q25.2	2008-06-05	2008-06-05	2008-06-05	ENSG00000143340	ENSG00000143340			28274	protein-coding gene	gene with protein product		611727	"chromosome 1 open reading frame 76"	C1orf76		12477932	Standard	NM_173509		Approved	MGC16664	uc001gnj.3	Q96GL9	OTTHUMG00000035262	ENST00000341785.4:c.133G>A	1.37:g.179782953G>A	ENSP00000354891:p.Glu45Lys		A8K8R7	Missense_Mutation	SNP	ENST00000341785.4	37	CCDS1333.1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.654145	0.67472	.	.	ENSG00000143340	ENST00000341785	.	.	.	4.63	4.63	0.57726	.	0.524877	0.22200	N	0.063250	T	0.43700	0.1259	L	0.36672	1.1	0.47407	D	0.999414	D	0.52996	0.957	B	0.38880	0.284	T	0.52071	-0.8624	9	0.52906	T	0.07	-5.0697	17.4521	0.87595	0.0:0.0:1.0:0.0	.	45	Q96GL9	F163A_HUMAN	K	45	.	ENSP00000354891:E45K	E	+	1	0	FAM163A	178049576	0.999000	0.42202	0.964000	0.40570	0.559000	0.35586	3.571000	0.53841	2.293000	0.77203	0.462000	0.41574	GAG		0.642	FAM163A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085300.1	NM_173509		A	179782953	G	A	179782953	3	1	753	1	0	0	0	0	1	0	0	0	5478	1059	37	1	139	1	FAM163A	1	179782953	Missense_Mutation	SNP	G	TCGA-KO-8413-01A-11D-2310-10	34480178	179782953	69467668	2	44330											
SMEK2	57223	bcgsc.ca	37	2	55842601	55842601	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr2:55842601A>G	ENST00000345102.5	-	2	485	c.184T>C	c.(184-186)Tat>Cat	p.Y62H	SMEK2_ENST00000477749.1_5'UTR|SMEK2_ENST00000272313.5_Missense_Mutation_p.Y62H|SMEK2_ENST00000407823.3_Missense_Mutation_p.Y62H|RP11-554J4.1_ENST00000608113.1_RNA	NM_001122964.1	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	62	WH1.				positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TGTTTCTGATATGCAGTATTT	0.308																																																0													92	96	95					2																	55842601		2201	4299	6500	SO:0001583	missense	57223			AB037808	CCDS1855.1, CCDS46289.1, CCDS62913.1	2p16.1	2008-09-15			ENSG00000138041				29267	protein-coding gene	gene with protein product		610352				16085932, 18614045	Standard	NM_001122964		Approved	PSY2, FLFL2, KIAA1387, FLJ31474	uc002rzc.3	Q5MIZ7	OTTHUMG00000129336	ENST00000345102.5:c.184T>C	2.37:g.55842601A>G	ENSP00000339769:p.Tyr62His		Q6P9B0|Q86XB8|Q9BQJ0|Q9BRK2|Q9H913|Q9P2G0	Missense_Mutation	SNP	ENST00000345102.5	37	CCDS46289.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.322473	0.81580	.	.	ENSG00000138041	ENST00000272313;ENST00000407823;ENST00000345102	T;T;T	0.46063	0.88;0.88;0.88	5.4	5.4	0.78164	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.74854	0.3771	H	0.95114	3.625	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	0.83441	0.0043	10	0.87932	D	0	-9.6523	15.4274	0.75065	1.0:0.0:0.0:0.0	.	62;62;62	Q5MIZ7-2;Q5MIZ7;Q5MIZ7-3	.;P4R3B_HUMAN;.	H	62	ENSP00000272313:Y62H;ENSP00000385912:Y62H;ENSP00000339769:Y62H	ENSP00000272313:Y62H	Y	-	1	0	SMEK2	55696105	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.507000	0.90522	2.061000	0.61500	0.528000	0.53228	TAT		0.308	SMEK2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251483.1	NM_020463		G	55842601	A	G	55842601	3	3	753	1	0	0	0	0	1	0	0	0	14800	449	16	3	2429	3	SMEK2	2	55842601	Missense_Mutation	SNP	A	TCGA-KO-8413-01A-11D-2310-10		55842601	187356772	3	44331											
ATG9A	79065	bcgsc.ca	37	2	220085850	220085850	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr2:220085850T>C	ENST00000409618.1	-	14	2759	c.2320A>G	c.(2320-2322)Acc>Gcc	p.T774A	ATG9A_ENST00000409422.1_Missense_Mutation_p.T713A|ABCB6_ENST00000265316.3_5'Flank|ABCB6_ENST00000439002.2_5'Flank|ATG9A_ENST00000361242.4_Missense_Mutation_p.T774A|AC068946.1_ENST00000408417.1_RNA|ATG9A_ENST00000396761.2_Missense_Mutation_p.T774A			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	774					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)		AGGGCAGTGGTCTCAGGAGCT	0.647																																																0													21	23	22					2																	220085850		1892	4098	5990	SO:0001583	missense	79065			AK021732	CCDS42820.1	2q35	2014-02-12	2012-06-06	2005-09-11	ENSG00000198925	ENSG00000198925			22408	protein-coding gene	gene with protein product		612204	"APG9 autophagy 9-like 1 (S. cerevisiae)", "ATG9 autophagy related 9 homolog A (S. cerevisiae)"	APG9L1			Standard	NM_024085		Approved	FLJ22169	uc002vkf.1	Q7Z3C6	OTTHUMG00000154557	ENST00000409618.1:c.2320A>G	2.37:g.220085850T>C	ENSP00000386710:p.Thr774Ala		Q3ZAQ6|Q6P0N7|Q7Z317|Q7Z320|Q8NDK6|Q8WU65|Q9BVL5|Q9H6L1|Q9HAG7	Missense_Mutation	SNP	ENST00000409618.1	37	CCDS42820.1	.	.	.	.	.	.	.	.	.	.	T	15.11	2.735244	0.48939	.	.	ENSG00000198925	ENST00000396761;ENST00000409618;ENST00000361242;ENST00000409422	T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56	5.3	5.3	0.74995	.	0.320888	0.33813	N	0.004532	T	0.51907	0.1702	N	0.24115	0.695	0.37355	D	0.91096	B	0.06786	0.001	B	0.06405	0.002	T	0.51403	-0.8710	10	0.10902	T	0.67	-18.9449	9.84	0.40993	0.0:0.076:0.0:0.924	.	774	Q7Z3C6	ATG9A_HUMAN	A	774;774;774;713	ENSP00000379983:T774A;ENSP00000386710:T774A;ENSP00000355173:T774A;ENSP00000386535:T713A	ENSP00000355173:T774A	T	-	1	0	ATG9A	219794094	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	1.652000	0.37313	2.225000	0.72522	0.482000	0.46254	ACC		0.647	ATG9A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335930.1	NM_024085		C	220085850	T	C	220085850	3	2	753	1	0	0	0	0	1	0	0	0	1102	1667	58	3	211	3	ATG9A	2	220085850	Missense_Mutation	SNP	T	TCGA-KO-8413-01A-11D-2310-10	164243249	220085850	23113523	4	44332											
PRR21	643905	mdanderson.org	37	2	240981515	240981515	+	Silent	SNP	A	A	G	rs59139800	byFrequency	TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr2:240981515A>G	ENST00000408934.1	-	1	884	c.885T>C	c.(883-885)caT>caC	p.H295H		NM_001080835.1	NP_001074304.1	Q8WXC7	PRR21_HUMAN	proline rich 21	295	Pro-rich.									NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	29						GTGAAGAGGCATGGACGAAGG	0.637													a|||	2084	0.416134	0.4463	0.379	5008	,	,		14987	0.5754		0.334	False		,,,				2504	0.3221															0													7	5	5					2																	240981515		1341	2643	3984	SO:0001819	synonymous_variant	643905			AF453950	CCDS33417.1	2q37.3	2009-04-20			ENSG00000221961	ENSG00000221961			33866	protein-coding gene	gene with protein product							Standard	NM_001080835		Approved		uc010zod.2	Q8WXC7	OTTHUMG00000159174	ENST00000408934.1:c.885T>C	2.37:g.240981515A>G				Silent	SNP	ENST00000408934.1	37	CCDS33417.1																																																																																				0.637	PRR21-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080835		G	240981515	A	G	240981515	2	3	753	1	0	0	0	0	0	0	0	1	12597	214	8	3		3	PRR21	2	240981515	Silent	SNP	A	TCGA-KO-8413-01A-11D-2310-10	20895665	240981515	2217858	5	44333											
COL8A1	1295	broad.mit.edu;mdanderson.org	37	3	99514923	99514923	+	Silent	SNP	G	G	A			TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr3:99514923G>A	ENST00000261037.3	+	5	2558	c.2178G>A	c.(2176-2178)ctG>ctA	p.L726L	COL8A1_ENST00000273342.4_Silent_p.L726L	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	726	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.|Nonhelical region (NC1).				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen type VIII trimer (GO:0005591)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						CTGCAGGACTGTATGCCGGGC	0.473																																																0													35	35	35					3																	99514923		2203	4300	6503	SO:0001819	synonymous_variant	1295			AF170702	CCDS2934.1	3q11.1-q13.2	2013-01-16			ENSG00000144810	ENSG00000144810		"Collagens"	2215	protein-coding gene	gene with protein product		120251	"chromosome 3 open reading frame 7"	C3orf7		2029894	Standard	NM_001850		Approved	MGC9568	uc003dth.2	P27658	OTTHUMG00000148669	ENST00000261037.3:c.2178G>A	3.37:g.99514923G>A			D3DN42|Q53XI6|Q96D07	Silent	SNP	ENST00000261037.3	37	CCDS2934.1																																																																																				0.473	COL8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309001.1	NM_001850		A	99514923	G	A	99514923	2	1	753	1	0	0	0	0	0	0	0	1	3707	1364	48	2		2	COL8A1	3	99514923	Silent	SNP	G	TCGA-KO-8413-01A-11D-2310-10		99514923	98507507	6	44334											
GPR78	27201	mdanderson.org	37	4	8583312	8583312	+	Missense_Mutation	SNP	A	A	C	rs17844778	byFrequency	TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr4:8583312A>C	ENST00000382487.4	+	1	1020	c.603A>C	c.(601-603)agA>agC	p.R201S	GPR78_ENST00000509216.1_Intron	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	201			R -> S (in dbSNP:rs17844778).		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)			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						TGGCACGCAGACACTGCCAGC	0.692													C|||	752	0.15016	0.0295	0.2161	5008	,	,		16947	0.0248		0.3231	False		,,,				2504	0.2178															0								C	SER/ARG	308,4022		19,270,1876	8	8	8		603	1.6	0	4	dbSNP_123	8	2619,5825		429,1761,2032	yes	missense	GPR78	NM_080819.2	110	448,2031,3908	CC,CA,AA		31.0161,7.1132,22.9137	benign	201/364	8583312	2927,9847	2165	4222	6387	SO:0001583	missense	27201			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.603A>C	4.37:g.8583312A>C	ENSP00000371927:p.Arg201Ser		Q8NGV3	Missense_Mutation	SNP	ENST00000382487.4	37	CCDS3403.1	353	0.16163003663003664	28	0.056910569105691054	91	0.2513812154696133	8	0.013986013986013986	226	0.29815303430079154	C	0.020	-1.434012	0.01108	0.071132	0.310161	ENSG00000155269	ENST00000382487	T	0.40756	1.02	2.53	1.64	0.23874	GPCR, rhodopsin-like superfamily (1);	0.236614	0.34291	N	0.004095	T	0.00012	0.0000	N	0.01048	-1.04	0.58432	P	1.999999999946489E-6	B	0.02656	0.0	B	0.04013	0.001	T	0.44003	-0.9356	9	0.19147	T	0.46	.	9.2648	0.37634	0.3897:0.6103:0.0:0.0	rs17844778	201	Q96P69	GPR78_HUMAN	S	201	ENSP00000371927:R201S	ENSP00000371927:R201S	R	+	3	2	GPR78	8634212	0.998000	0.40836	0.000000	0.03702	0.067000	0.16453	0.463000	0.21972	-0.378000	0.07918	-0.648000	0.03929	AGA		0.692	GPR78-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359201.1			C	8583312	A	C	8583312	3	2	753	1	0	0	0	0	1	0	0	0	6712	272	10	5	605	5	GPR78	4	8583312	Missense_Mutation	SNP	A	TCGA-KO-8413-01A-11D-2310-10		8583312	182570964	7	44335											
MAP9	79884	broad.mit.edu;ucsc.edu;mdanderson.org	37	4	156294336	156294336	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr4:156294336T>C	ENST00000311277.4	-	4	696	c.433A>G	c.(433-435)Aaa>Gaa	p.K145E	AC097467.2_ENST00000596165.1_RNA|MAP9_ENST00000515654.1_Missense_Mutation_p.K145E|MAP9_ENST00000379248.2_Missense_Mutation_p.K73E	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	145					cytokinesis (GO:0000910)|regulation of mitosis (GO:0007088)|spindle assembly involved in mitosis (GO:0090307)	astral microtubule (GO:0000235)|mitotic spindle midzone (GO:1990023)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		GGTTTCATTTTTATTTTGTCT	0.303																																																0													43	45	44					4																	156294336		2202	4300	6502	SO:0001583	missense	79884			AK024812	CCDS35493.1	4q32.1	2008-02-05			ENSG00000164114	ENSG00000164114			26118	protein-coding gene	gene with protein product	"aster-associated protein"	610070				16049101	Standard	XM_006714306		Approved	ASAP, FLJ21159	uc003ios.3	Q49MG5	OTTHUMG00000133628	ENST00000311277.4:c.433A>G	4.37:g.156294336T>C	ENSP00000310593:p.Lys145Glu		Q4W5I7|Q68DU1|Q9H781|Q9H7B6	Missense_Mutation	SNP	ENST00000311277.4	37	CCDS35493.1	.	.	.	.	.	.	.	.	.	.	T	11.89	1.774899	0.31411	.	.	ENSG00000164114	ENST00000311277;ENST00000515654;ENST00000433024;ENST00000393836;ENST00000379248	T;T;T;T	0.35421	2.14;2.15;1.41;1.31	5.84	-1.67	0.08238	.	0.700052	0.14170	N	0.336772	T	0.30262	0.0759	L	0.52364	1.645	0.09310	N	1	B;P;B;B	0.51537	0.001;0.946;0.01;0.01	B;P;B;B	0.45639	0.004;0.488;0.006;0.006	T	0.18808	-1.0325	10	0.66056	D	0.02	-4.9641	4.9297	0.13910	0.0:0.2786:0.2805:0.4409	.	145;73;145;145	B4DVG9;A8MSM7;B9EJB6;Q49MG5	.;.;.;MAP9_HUMAN	E	145;145;145;145;73	ENSP00000310593:K145E;ENSP00000427402:K145E;ENSP00000394048:K145E;ENSP00000368550:K73E	ENSP00000310593:K145E	K	-	1	0	MAP9	156513786	0.000000	0.05858	0.000000	0.03702	0.583000	0.36354	0.003000	0.13083	-0.184000	0.10567	0.455000	0.32223	AAA		0.303	MAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257771.3	NM_001039580		C	156294336	T	C	156294336	3	2	753	1	0	0	0	0	1	0	0	0	9272	1850	64	3	1554	3	MAP9	4	156294336	Missense_Mutation	SNP	T	TCGA-KO-8413-01A-11D-2310-10	147711024	156294336	34859940	8	44336											
FRG1	2483	mdanderson.org	37	4	190876287	190876287	+	Nonsense_Mutation	SNP	G	G	A	rs113079586		TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr4:190876287G>A	ENST00000226798.4	+	5	635	c.413G>A	c.(412-414)tGg>tAg	p.W138*	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	138					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)		AGAGAACAATGGGAACCAGTC	0.348																																																0													85	85	85					4																	190876287		2203	4300	6503	SO:0001587	stop_gained	2483			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.413G>A	4.37:g.190876287G>A	ENSP00000226798:p.Trp138*		A8K775	Nonsense_Mutation	SNP	ENST00000226798.4	37	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	37	6.190454	0.97362	.	.	ENSG00000109536	ENST00000226798;ENST00000531991	.	.	.	4.04	4.04	0.47022	.	0.054165	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.9237	14.145	0.65344	0.0:0.0:1.0:0.0	.	.	.	.	X	138;75	.	ENSP00000226798:W138X	W	+	2	0	FRG1	191113281	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	6.226000	0.72277	1.964000	0.57103	0.567000	0.79289	TGG		0.348	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		A	190876287	G	A	190876287	4	1	753	1	0	0	0	0	0	1	0	0	6048	1357	47	2	431	2	FRG1	4	190876287	Nonsense_Mutation	SNP	G	TCGA-KO-8413-01A-11D-2310-10	34581951	190876287	277989	9	44337			1	118		3	3	2318	G		7.263727e-06
FRG1	2483	mdanderson.org	37	4	190876307	190876307	+	Splice_Site	SNP	G	G	A	rs200854715		TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr4:190876307G>A	ENST00000226798.4	+	5	654		c.e5+1		FRG1_ENST00000514482.1_Splice_Site	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1						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)		CTTTCAAAATGTAAGTGCTGT	0.328																																																0													74	74	74					4																	190876307		2202	4295	6497	SO:0001630	splice_region_variant	2483			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.432+1G>A	4.37:g.190876307G>A			A8K775	Splice_Site	SNP	ENST00000226798.4	37	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	N	18.80	3.700931	0.68501	.	.	ENSG00000109536	ENST00000226798;ENST00000531991	.	.	.	3.88	3.88	0.44766	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7779	0.63066	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FRG1	191113301	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	7.413000	0.80104	1.879000	0.54435	0.567000	0.79289	.		0.328	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477	Intron	A	190876307	G	A	190876307	5	1	753	1	0	0	0	0	0	0	1	0	6048	1391	48	2	451	2	FRG1	4	190876307	Splice_Site	SNP	G	TCGA-KO-8413-01A-11D-2310-10	20	190876307	277969	10	44338			1	118		3	3	2318	G		7.263727e-06
FRG1	2483	mdanderson.org	37	4	190878604	190878604	+	Missense_Mutation	SNP	G	G	A	rs371189769		TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr4:190878604G>A	ENST00000226798.4	+	6	706	c.484G>A	c.(484-486)Gca>Aca	p.A162T	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	162					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)		ATGCAATGAAGCAGGGGACAT	0.383																																																0													36	36	36					4																	190878604		2184	4280	6464	SO:0001583	missense	2483			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.484G>A	4.37:g.190878604G>A	ENSP00000226798:p.Ala162Thr		A8K775	Missense_Mutation	SNP	ENST00000226798.4	37	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	11.61	1.689550	0.29962	.	.	ENSG00000109536	ENST00000226798;ENST00000524583;ENST00000531991	T;T	0.42900	1.94;0.96	4.19	4.19	0.49359	Actin cross-linking (1);	0.268853	0.42821	D	0.000657	T	0.36110	0.0955	L	0.47716	1.5	0.31376	N	0.679557	B	0.27951	0.195	B	0.30716	0.119	T	0.35001	-0.9806	10	0.14656	T	0.56	-21.4303	14.4711	0.67517	0.0:0.0:1.0:0.0	.	162	Q14331	FRG1_HUMAN	T	162;34;99	ENSP00000226798:A162T;ENSP00000435943:A99T	ENSP00000226798:A162T	A	+	1	0	FRG1	191115598	1.000000	0.71417	1.000000	0.80357	0.534000	0.34807	4.336000	0.59304	2.063000	0.61619	0.454000	0.30748	GCA		0.383	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		A	190878604	G	A	190878604	3	1	753	1	0	0	0	0	1	0	0	0	6048	971	34	2	506	2	FRG1	4	190878604	Missense_Mutation	SNP	G	TCGA-KO-8413-01A-11D-2310-10	2297	190878604	275672	11	44339			1	118		3	3	2318	G		7.263727e-06
HCN1	348980	broad.mit.edu;ucsc.edu;mdanderson.org	37	5	45267264	45267264	+	Silent	SNP	G	G	A	rs141455774	byFrequency	TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr5:45267264G>A	ENST00000303230.4	-	7	1767	c.1710C>T	c.(1708-1710)aaC>aaT	p.N570N		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	570					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						CCAGGACCTCGTTGAAATTGT	0.428																																																0								G		4,4402	8.1+/-20.4	0,4,2199	156	143	147		1710	1.9	1	5	dbSNP_134	147	0,8600		0,0,4300	no	coding-synonymous	HCN1	NM_021072.3		0,4,6499	AA,AG,GG		0.0,0.0908,0.0308		570/891	45267264	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	348980			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.1710C>T	5.37:g.45267264G>A				Silent	SNP	ENST00000303230.4	37	CCDS3952.1																																																																																				0.428	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		A	45267264	G	A	45267264	2	1	753	1	0	0	0	0	0	0	0	1	6998	1136	40	1		1	HCN1	5	45267264	Silent	SNP	G	TCGA-KO-8413-01A-11D-2310-10		45267264	135647996	12	44340											
HLA-DQA2	3118	mdanderson.org	37	6	32714125	32714125	+	Missense_Mutation	SNP	A	A	G	rs200904145	byFrequency	TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr6:32714125A>G	ENST00000374940.3	+	4	824	c.722A>G	c.(721-723)cAa>cGa	p.Q241R		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	241					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)|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)			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					"""Insulin(DB00071)"	TTCATCATCCAAGGCCTGCGT	0.522																																																0													155	152	153					6																	32714125		1511	2709	4220	SO:0001583	missense	3118				CCDS4753.1	6p21.3	2013-01-11			ENSG00000237541	ENSG00000237541		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4943	protein-coding gene	gene with protein product		613503		HLA-DXA			Standard	NM_020056		Approved		uc003obx.3	P01906	OTTHUMG00000031108	ENST00000374940.3:c.722A>G	6.37:g.32714125A>G	ENSP00000364076:p.Gln241Arg		A2BF37|B0V0E7|O19789|Q5SQ94|Q5SR04	Missense_Mutation	SNP	ENST00000374940.3	37	CCDS4753.1	.	.	.	.	.	.	.	.	.	.	.	0.001	-3.026763	0.00041	.	.	ENSG00000237541	ENST00000374940	T	0.01705	4.68	3.06	-6.13	0.02118	.	0.616827	0.14885	N	0.292732	T	0.00178	0.0005	N	0.01800	-0.715	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.28235	-1.0050	10	0.07813	T	0.8	.	5.6461	0.17590	0.6481:0.1299:0.222:0.0	.	241	P01906	DQA2_HUMAN	R	241	ENSP00000364076:Q241R	ENSP00000364076:Q241R	Q	+	2	0	HLA-DQA2	32822103	0.051000	0.20477	0.067000	0.19924	0.023000	0.10783	-0.431000	0.06965	-1.761000	0.01310	-1.188000	0.01700	CAA		0.522	HLA-DQA2-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076179.2	NM_020056		G	32714125	A	G	32714125	3	3	753	1	0	0	0	0	1	0	0	0	7207	130	5	3	736	3	HLA-DQA2	6	32714125	Missense_Mutation	SNP	A	TCGA-KO-8413-01A-11D-2310-10		32714125	138400942	13	44341											
C6orf170	221322	ucsc.edu	37	6	121436334	121436334	+	Missense_Mutation	SNP	T	T	C	rs201909100		TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr6:121436334T>C	ENST00000398212.2	-	27	3086	c.3037A>G	c.(3037-3039)Att>Gtt	p.I1013V	TBC1D32_ENST00000275159.6_Missense_Mutation_p.I1054V|TBC1D32_ENST00000398197.2_5'UTR	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	1013					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)										GTCATTTTAATGCCAAGCTGC	0.343													T|||	1	0.000199681	0.0008	0.0	5008	,	,		16598	0.0		0.0	False		,,,				2504	0.0															0													104	97	99					6																	121436334		1828	4102	5930	SO:0001583	missense	221322			AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"broad-minded homolog"	615867	"chromosome 6 open reading frame 171", "chromosome 6 open reading frame 170"	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.3037A>G	6.37:g.121436334T>C	ENSP00000381270:p.Ile1013Val		Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Missense_Mutation	SNP	ENST00000398212.2	37	CCDS43501.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	T	3.083	-0.188580	0.06299	.	.	ENSG00000146350	ENST00000275159;ENST00000398212	T;T	0.16073	2.37;2.37	5.73	2.05	0.26809	.	0.221573	0.48286	N	0.000192	T	0.02571	0.0078	N	0.13327	0.33	0.27263	N	0.958571	B;B	0.06786	0.0;0.001	B;B	0.09377	0.001;0.004	T	0.46652	-0.9176	10	0.20519	T	0.43	.	9.4136	0.38507	0.0:0.3515:0.0:0.6485	.	1054;1013	Q96NH3-4;Q96NH3	.;BROMI_HUMAN	V	1054;1013	ENSP00000275159:I1054V;ENSP00000381270:I1013V	ENSP00000275159:I1054V	I	-	1	0	C6orf170	121478033	0.828000	0.29307	0.988000	0.46212	0.995000	0.86356	0.119000	0.15626	0.177000	0.19895	0.533000	0.62120	ATT		0.343	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730		C	121436334	T	C	121436334	3	2	753	1	0	0	0	0	1	0	0	0	2346	1464	51	3	760	3	C6orf170	6	121436334	Missense_Mutation	SNP	T	TCGA-KO-8413-01A-11D-2310-10	88722209	121436334	49678733	14	44342											
UTRN	7402	bcgsc.ca	37	6	145110379	145110379	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr6:145110379T>C	ENST00000367545.3	+	61	8884	c.8884T>C	c.(8884-8886)Tct>Cct	p.S2962P	UTRN_ENST00000367526.4_Missense_Mutation_p.S517P	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2962	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)		TGGATTAATGTCTCTCTCCAA	0.299																																																0													131	150	143					6																	145110379		2203	4299	6502	SO:0001583	missense	7402			AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"utrophin (homologous to dystrophin)"	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.8884T>C	6.37:g.145110379T>C	ENSP00000356515:p.Ser2962Pro		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.961973	0.74016	.	.	ENSG00000152818	ENST00000367545;ENST00000367526	T;T	0.64085	-0.08;-0.08	5.96	3.45	0.39498	EF-hand domain, type 1 (1);EF-hand-like domain (1);	0.123946	0.36972	N	0.002309	T	0.59649	0.2209	M	0.83852	2.665	0.34582	D	0.714609	P	0.43231	0.801	P	0.47299	0.543	T	0.64989	-0.6277	10	0.42905	T	0.14	.	13.0868	0.59146	0.0:0.0:0.2518:0.7481	.	2962	P46939	UTRO_HUMAN	P	2962;517	ENSP00000356515:S2962P;ENSP00000356496:S517P	ENSP00000356496:S517P	S	+	1	0	UTRN	145152072	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	4.917000	0.63369	1.051000	0.40369	0.533000	0.62120	TCT		0.299	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			C	145110379	T	C	145110379	3	2	753	1	0	0	0	0	1	0	0	0	17108	1667	58	3	9126	3	UTRN	6	145110379	Missense_Mutation	SNP	T	TCGA-KO-8413-01A-11D-2310-10	23674045	145110379	26004688	15	44343											
TBP	6908	mdanderson.org	37	6	170871040	170871040	+	Silent	SNP	A	A	G	rs71815788|rs55736770	byFrequency	TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	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																																																3	Deletion - In frame(3)	ovary(1)|prostate(1)|breast(1)											12	14	13					6																	170871040		1995	3894	5889	SO:0001819	synonymous_variant	6908			M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"General transcription factors"	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.216A>G	6.37:g.170871040A>G			B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	CCDS5315.1																																																																																				0.567	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		G	170871040	A	G	170871040	2	3	753	1	0	0	0	0	0	0	0	1	15649	40	2	3		3	TBP	6	170871040	Silent	SNP	A	TCGA-KO-8413-01A-11D-2310-10	25760661	170871040	244027	16	44344	457	2									
TBP	6908	mdanderson.org	37	6	170871043	170871043	+	Silent	SNP	G	G	A			TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	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																																																1	Substitution - coding silent(1)	endometrium(1)											17	21	20					6																	170871043		1987	3877	5864	SO:0001819	synonymous_variant	6908			M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"General transcription factors"	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.219G>A	6.37:g.170871043G>A			B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	CCDS5315.1																																																																																				0.562	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		A	170871043	G	A	170871043	2	1	753	1	0	0	0	0	0	0	0	1	15649	962	34	2		2	TBP	6	170871043	Silent	SNP	G	TCGA-KO-8413-01A-11D-2310-10	3	170871043	244024	17	44345	457	2									
MUC17	140453	mdanderson.org	37	7	100678935	100678935	+	Missense_Mutation	SNP	C	C	T	rs116960680		TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr7:100678935C>T	ENST00000306151.4	+	3	4302	c.4238C>T	c.(4237-4239)gCt>gTt	p.A1413V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1413	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)					AGTTCTGAGGCTAGCACCCTT	0.507																																																0													271	276	274					7																	100678935		2203	4300	6503	SO:0001583	missense	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.4238C>T	7.37:g.100678935C>T	ENSP00000302716:p.Ala1413Val		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	2.228	-0.376848	0.05000	.	.	ENSG00000169876	ENST00000306151	T	0.02656	4.21	0.838	-1.68	0.08212	.	.	.	.	.	T	0.01870	0.0059	L	0.29908	0.895	0.09310	N	1	B	0.17038	0.02	B	0.06405	0.002	T	0.49103	-0.8974	9	0.16896	T	0.51	.	2.1924	0.03903	0.0:0.2679:0.3208:0.4112	.	1413	Q685J3	MUC17_HUMAN	V	1413	ENSP00000302716:A1413V	ENSP00000302716:A1413V	A	+	2	0	MUC17	100465655	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	0.179000	0.16840	-0.919000	0.03803	0.134000	0.15878	GCT		0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		T	100678935	C	T	100678935	3	4	753	1	0	0	0	0	1	0	0	0	9976	797	28	2	4248	2	MUC17	7	100678935	Missense_Mutation	SNP	C	TCGA-KO-8413-01A-11D-2310-10		100678935	58459728	18	44346											
SERPINE1	5054	hgsc.bcm.edu;ucsc.edu	37	7	100780310	100780310	+	Silent	SNP	C	C	T	rs550385890		TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr7:100780310C>T	ENST00000223095.4	+	8	1273	c.1116C>T	c.(1114-1116)ccC>ccT	p.P372P	SERPINE1_ENST00000445463.2_Silent_p.P357P	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	372					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)	GCATGGCCCCCGAGGAGATCA	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		19048	0.001		0.0	False		,,,				2504	0.0															0													134	114	121					7																	100780310		2203	4300	6503	SO:0001819	synonymous_variant	5054			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.1116C>T	7.37:g.100780310C>T			B7Z4S0|F8WD53	Silent	SNP	ENST00000223095.4	37	CCDS5711.1																																																																																				0.582	SERPINE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347458.1	NM_000602		T	100780310	C	T	100780310	2	4	753	1	0	0	0	0	0	0	0	1	14117	639	23	1		1	SERPINE1	7	100780310	Silent	SNP	C	TCGA-KO-8413-01A-11D-2310-10	101375	100780310	58358353	19	44347											
IRF5	3663	mdanderson.org	37	7	128587381	128587381	+	Silent	SNP	T	T	C	rs199508964|rs79724471|rs60344245	byFrequency	TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr7:128587381T>C	ENST00000402030.2	+	6	603	c.531T>C	c.(529-531)ccT>ccC	p.P177P	IRF5_ENST00000477535.1_Intron|IRF5_ENST00000473745.1_Silent_p.P177P|IRF5_ENST00000357234.5_Silent_p.P193P|IRF5_ENST00000249375.4_Silent_p.P177P	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	177					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						TGCGGCCGCCTACTCTGCAGC	0.657																																																1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)						T	,,,,	881,2925		144,593,1166	5	7	6		531,579,531,,531		0.1	7	dbSNP_131	6	1628,6000		358,912,2544	no	coding-synonymous,coding-synonymous,coding-synonymous,intron,coding-synonymous	IRF5	NM_001098627.2,NM_001098629.1,NM_001098630.1,NM_001242452.1,NM_032643.3	,,,,	502,1505,3710	CC,CT,TT		21.3424,23.1477,21.9433	,,,,	177/499,193/515,177/499,,177/499	128587381	2509,8925	1903	3814	5717	SO:0001819	synonymous_variant	3663				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.531T>C	7.37:g.128587381T>C			A4D1J8|A8DUA8|A8DUA9|E7EQ16|E7EW54|Q1A7B4|Q64GA9|Q64GB1|Q64GB2|Q6RCM8|Q9BQF0	Silent	SNP	ENST00000402030.2	37	CCDS5808.1	740	0.33882783882783885	191	0.3882113821138211	85	0.23480662983425415	170	0.2972027972027972	294	0.38786279683377306	T	2.949	-0.217149	0.06101	0.231477	0.213424	ENSG00000128604	ENST00000430204	.	.	.	.	.	.	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.58432	P	2.9999999999752447E-6	.	.	.	.	.	.	T	0.44667	-0.9313	1	.	.	.	.	.	.	.	.	166	E9PC81	.	P	166	.	.	L	+	2	0	IRF5	128374617	0.027000	0.19231	0.110000	0.21437	0.055000	0.15305	0.056000	0.14256	0.056000	0.16144	0.055000	0.15244	CTA		0.657	IRF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350934.1	NM_001098627		C	128587381	T	C	128587381	2	2	753	1	0	0	0	0	0	0	0	1	7835	1509	53	3		3	IRF5	7	128587381	Silent	SNP	T	TCGA-KO-8413-01A-11D-2310-10	27807071	128587381	30551282	20	44348											
SDR16C5	195814	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	8	57224802	57224802	+	Missense_Mutation	SNP	C	C	T	rs199932397		TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr8:57224802C>T	ENST00000303749.3	-	3	1016	c.379G>A	c.(379-381)Gga>Aga	p.G127R	SDR16C5_ENST00000522671.1_Missense_Mutation_p.G127R|SDR16C5_ENST00000396721.2_Intron	NM_138969.2	NP_620419.2	Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5	127					detection of light stimulus involved in visual perception (GO:0050908)|keratinocyte proliferation (GO:0043616)|retinal metabolic process (GO:0042574)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	retinol dehydrogenase activity (GO:0004745)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						GTTACGATTCCGGCATTGTTG	0.378																																																0								C	ARG/GLY	0,4406		0,0,2203	119	109	112		379	4.5	0.5	8		112	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SDR16C5	NM_138969.2	125	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	127/310	57224802	2,13004	2203	4300	6503	SO:0001583	missense	195814				CCDS6167.1	8q12.1	2011-09-20			ENSG00000170786	ENSG00000170786	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	30311	protein-coding gene	gene with protein product		608989				12372410	Standard	NM_138969		Approved	RDHE2, RDH-E2	uc003xsy.1	Q8N3Y7	OTTHUMG00000164311	ENST00000303749.3:c.379G>A	8.37:g.57224802C>T	ENSP00000307607:p.Gly127Arg		B4DGK2|Q330K3|Q8TDV9|Q96LX1	Missense_Mutation	SNP	ENST00000303749.3	37	CCDS6167.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.622111	0.87460	0.0	2.33E-4	ENSG00000170786	ENST00000303749;ENST00000522671;ENST00000538514	D;T	0.94758	-3.51;-0.2	5.41	4.53	0.55603	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.98498	0.9499	H	0.99117	4.435	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.99056	1.0829	10	0.87932	D	0	.	14.1141	0.65142	0.0:0.9276:0.0:0.0724	.	127;127	G3V145;Q8N3Y7	.;RDHE2_HUMAN	R	127	ENSP00000307607:G127R;ENSP00000431010:G127R	ENSP00000307607:G127R	G	-	1	0	SDR16C5	57387356	1.000000	0.71417	0.454000	0.27019	0.992000	0.81027	5.952000	0.70282	1.291000	0.44653	0.655000	0.94253	GGA		0.378	SDR16C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378235.1	NM_138969		T	57224802	C	T	57224802	3	4	753	1	0	0	0	0	1	0	0	0	13977	661	23	1	570	1	SDR16C5	8	57224802	Missense_Mutation	SNP	C	TCGA-KO-8413-01A-11D-2310-10		57224802	89139220	21	44349											
VPS13B	157680	broad.mit.edu	37	8	100832274	100832274	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr8:100832274A>G	ENST00000358544.2	+	49	9104	c.8993A>G	c.(8992-8994)gAc>gGc	p.D2998G	VPS13B_ENST00000357162.2_Missense_Mutation_p.D2973G|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2998					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)			TCCAAATGGGACCTCTGGCTA	0.393																																					Colon(161;2205 2542 7338 31318)											0													124	129	127					8																	100832274		2203	4300	6503	SO:0001583	missense	157680			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"Cohen syndrome 1"	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.8993A>G	8.37:g.100832274A>G	ENSP00000351346:p.Asp2998Gly		C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.203194	0.79127	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.80480	-1.38;-1.38	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.83147	0.5191	N	0.19112	0.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.85178	0.1002	10	0.54805	T	0.06	.	16.3526	0.83220	1.0:0.0:0.0:0.0	.	2973;2998	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	G	2973;2998	ENSP00000349685:D2973G;ENSP00000351346:D2998G	ENSP00000349685:D2973G	D	+	2	0	VPS13B	100901450	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.255000	0.74692	0.533000	0.62120	GAC		0.393	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		G	100832274	A	G	100832274	3	3	753	1	0	0	0	0	1	0	0	0	17195	275	10	3	9377	3	VPS13B	8	100832274	Missense_Mutation	SNP	A	TCGA-KO-8413-01A-11D-2310-10	43607472	100832274	45531748	22	44350											
UBR5	51366	broad.mit.edu;mdanderson.org;bcgsc.ca	37	8	103324629	103324629	+	Missense_Mutation	SNP	C	C	G			TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr8:103324629C>G	ENST00000520539.1	-	17	2698	c.2092G>C	c.(2092-2094)Gat>Cat	p.D698H	UBR5_ENST00000220959.4_Missense_Mutation_p.D698H|UBR5_ENST00000521922.1_Missense_Mutation_p.D692H	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	698					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)			GGGTCAGCATCTGGACCAGAG	0.408																																					Ovarian(131;96 1741 5634 7352 27489)											0													103	97	99					8																	103324629		2203	4300	6503	SO:0001583	missense	51366			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.2092G>C	8.37:g.103324629C>G	ENSP00000429084:p.Asp698His		B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	C	19.22	3.784670	0.70222	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.52057	0.68;0.68;0.68	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.63307	0.2500	L	0.42245	1.32	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77557	0.99;0.99	T	0.65429	-0.6170	10	0.66056	D	0.02	.	18.7881	0.91963	0.0:1.0:0.0:0.0	.	692;698	E7EMW7;O95071	.;UBR5_HUMAN	H	698;698;692	ENSP00000429084:D698H;ENSP00000220959:D698H;ENSP00000427819:D692H	ENSP00000220959:D698H	D	-	1	0	UBR5	103393805	1.000000	0.71417	0.996000	0.52242	0.967000	0.64934	7.818000	0.86416	2.449000	0.82847	0.591000	0.81541	GAT		0.408	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		G	103324629	C	G	103324629	3	3	753	1	0	0	0	0	1	0	0	0	16910	913	32	4	6479	4	UBR5	8	103324629	Missense_Mutation	SNP	C	TCGA-KO-8413-01A-11D-2310-10	2492355	103324629	43039393	23	44351											
FRG2B	441581	mdanderson.org	37	10	135438933	135438933	+	Silent	SNP	C	C	T	rs200793608		TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr10:135438933C>T	ENST00000425520.1	-	4	559	c.507G>A	c.(505-507)ccG>ccA	p.P169P	FRG2B_ENST00000443774.1_Silent_p.P170P	NM_001080998.1	NP_001074467.1	Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	169						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)		TTCGAATTGACGGTGTTTGGA	0.552																																																0													126	151	143					10																	135438933		2193	4291	6484	SO:0001819	synonymous_variant	441581			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.507G>A	10.37:g.135438933C>T			Q5VSQ1	Silent	SNP	ENST00000425520.1	37	CCDS44502.1																																																																																				0.552	FRG2B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467780.1	NM_001080998		T	135438933	C	T	135438933	2	4	753	1	0	0	0	0	0	0	0	1	6049	523	19	1		1	FRG2B	10	135438933	Silent	SNP	C	TCGA-KO-8413-01A-11D-2310-10		135438933	95814	24	44352	458	2	2	119		3	2	29	N	C_A	4.612781e-05
FRG2B	441581	mdanderson.org	37	10	135438943	135438943	+	Missense_Mutation	SNP	A	A	T	rs200701804		TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr10:135438943A>T	ENST00000425520.1	-	4	549	c.497T>A	c.(496-498)gTc>gAc	p.V166D	FRG2B_ENST00000443774.1_Missense_Mutation_p.V167D	NM_001080998.1	NP_001074467.1	Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	166						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)		CGGTGTTTGGACTCCTAGGGC	0.557																																																0													125	151	142					10																	135438943		2192	4290	6482	SO:0001583	missense	441581			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.497T>A	10.37:g.135438943A>T	ENSP00000401310:p.Val166Asp		Q5VSQ1	Missense_Mutation	SNP	ENST00000425520.1	37	CCDS44502.1	.	.	.	.	.	.	.	.	.	.	.	2.998	-0.206630	0.06180	.	.	ENSG00000225899	ENST00000443774;ENST00000425520	T;T	0.39997	1.05;1.05	.	.	.	.	1.677530	0.03603	N	0.233651	T	0.22666	0.0547	N	0.08118	0	0.09310	N	0.999995	B	0.02656	0.0	B	0.04013	0.001	T	0.16748	-1.0392	8	0.34782	T	0.22	-0.1173	.	.	.	.	166	Q96QU4	FRG2B_HUMAN	D	167;166	ENSP00000408343:V167D;ENSP00000401310:V166D	ENSP00000401310:V166D	V	-	2	0	FRG2B	135288933	0.003000	0.15002	0.161000	0.22692	0.163000	0.22366	-0.691000	0.05133	0.103000	0.17682	0.102000	0.15555	GTC		0.557	FRG2B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467780.1	NM_001080998		T	135438943	A	T	135438943	3	4	753	1	0	0	0	0	1	0	0	0	6049	275	10	5	342	5	FRG2B	10	135438943	Missense_Mutation	SNP	A	TCGA-KO-8413-01A-11D-2310-10	10	135438943	95804	25	44353	458	2	2	119		3	2	29	N	C_A	4.612781e-05
FRG2B	441581	mdanderson.org	37	10	135438961	135438961	+	Missense_Mutation	SNP	C	C	T	rs200048408	byFrequency	TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr10:135438961C>T	ENST00000425520.1	-	4	531	c.479G>A	c.(478-480)aGg>aAg	p.R160K	FRG2B_ENST00000443774.1_Missense_Mutation_p.R161K	NM_001080998.1	NP_001074467.1	Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	160						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)		GGCCCGAGACCTATGCCGCTT	0.557																																																0													118	141	133					10																	135438961		2195	4299	6494	SO:0001583	missense	441581			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.479G>A	10.37:g.135438961C>T	ENSP00000401310:p.Arg160Lys		Q5VSQ1	Missense_Mutation	SNP	ENST00000425520.1	37	CCDS44502.1	.	.	.	.	.	.	.	.	.	.	.	7.703	0.693451	0.15039	.	.	ENSG00000225899	ENST00000443774;ENST00000425520	T;T	0.50001	0.76;0.76	.	.	.	.	2.815140	0.01633	N	0.023649	T	0.33235	0.0856	L	0.27053	0.805	0.09310	N	1	B	0.15473	0.013	B	0.16289	0.015	T	0.09684	-1.0663	8	0.21014	T	0.42	-0.5686	.	.	.	.	160	Q96QU4	FRG2B_HUMAN	K	161;160	ENSP00000408343:R161K;ENSP00000401310:R160K	ENSP00000401310:R160K	R	-	2	0	FRG2B	135288951	0.009000	0.17119	0.133000	0.22050	0.135000	0.20990	0.259000	0.18405	0.119000	0.18210	0.121000	0.15741	AGG		0.557	FRG2B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467780.1	NM_001080998		T	135438961	C	T	135438961	3	4	753	1	0	0	0	0	1	0	0	0	6049	681	24	2	360	2	FRG2B	10	135438961	Missense_Mutation	SNP	C	TCGA-KO-8413-01A-11D-2310-10	18	135438961	95786	26	44354			2	119		3	2	29	N	C_A	4.612781e-05
CHID1	66005	broad.mit.edu	37	11	869923	869924	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr11:869923_869924insC	ENST00000449825.1	-	13	1472_1473	c.1116_1117insG	c.(1114-1119)gagctgfs	p.L373fs	CHID1_ENST00000429789.2_Frame_Shift_Ins_p.L342fs|CHID1_ENST00000336845.5_Frame_Shift_Ins_p.L398fs|CHID1_ENST00000323578.8_Frame_Shift_Ins_p.L373fs|CHID1_ENST00000528581.1_Frame_Shift_Ins_p.L398fs|CHID1_ENST00000526714.1_5'Flank|CHID1_ENST00000454838.2_Frame_Shift_Ins_p.L398fs|CHID1_ENST00000323541.7_Frame_Shift_Ins_p.L403fs|CHID1_ENST00000436108.2_Frame_Shift_Ins_p.L373fs	NM_001142675.1	NP_001136147.1	Q9BWS9	CHID1_HUMAN	chitinase domain containing 1	373					carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|innate immune response (GO:0045087)|negative regulation of cytokine production involved in inflammatory response (GO:1900016)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	chitinase activity (GO:0004568)|oligosaccharide binding (GO:0070492)			endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	13		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;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)		CCAACGCCCAGCTCCCGGGCCA	0.663																																					Pancreas(117;992 2327 5172 41921)											0																																										SO:0001589	frameshift_variant	66005			AK124697	CCDS7722.1, CCDS44510.1, CCDS44511.1	11p15.5	2005-10-27			ENSG00000177830	ENSG00000177830			28474	protein-coding gene	gene with protein product		615692					Standard	NM_023947		Approved	MGC3234, FLJ42707	uc001lsm.3	Q9BWS9	OTTHUMG00000133314	ENST00000449825.1:c.1117dupG	11.37:g.869924_869924dupC	ENSP00000391255:p.Leu373fs		B3KWB0|Q8NBM9|Q96CZ3|Q96S93|Q96SK0|Q9BY52	Frame_Shift_Ins	INS	ENST00000449825.1	37	CCDS7722.1																																																																																				0.663	CHID1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257112.1	NM_023947		C	869924	-	C	869923	7	5	753	1	0	1	1	0	0	0	0	0	3347	962	34	0	68	0	CHID1	11	869923	Frame_Shift_Ins	INS	-	TCGA-KO-8413-01A-11D-2310-10		869923	134136593	27	44355											
OR51T1	401665	broad.mit.edu;mdanderson.org	37	11	4903765	4903765	+	Silent	SNP	C	C	T	rs138268565	byFrequency	TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr11:4903765C>T	ENST00000322049.1	+	1	636	c.636C>T	c.(634-636)gaC>gaT	p.D212D	MMP26_ENST00000477339.1_Intron|OR51T1_ENST00000380378.1_Silent_p.D239D|MMP26_ENST00000380390.1_Intron			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															0								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			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			Q6IFH9	Silent	SNP	ENST00000322049.1	37																																																																																					0.443	OR51T1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000142180.1	NM_001004759		T	4903765	C	T	4903765	2	4	753	1	0	0	0	0	0	0	0	1	11108	535	19	1		1	OR51T1	11	4903765	Silent	SNP	C	TCGA-KO-8413-01A-11D-2310-10	4033842	4903765	130102751	28	44356											
FOLH1	2346	mdanderson.org	37	11	49186293	49186293	+	Silent	SNP	C	C	T	rs370741711		TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr11:49186293C>T	ENST00000256999.2	-	13	1664	c.1404G>A	c.(1402-1404)ccG>ccA	p.P468P	FOLH1_ENST00000525629.1_5'UTR|FOLH1_ENST00000340334.7_Silent_p.P453P|FOLH1_ENST00000343844.4_Silent_p.P160P|FOLH1_ENST00000356696.3_Silent_p.P468P|FOLH1_ENST00000533034.1_Silent_p.P453P	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	468	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)	TGTACATCAGCGGTGTACAAT	0.284																																																0													41	42	42					11																	49186293		2197	4295	6492	SO:0001819	synonymous_variant	2346			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.1404G>A	11.37:g.49186293C>T			A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Silent	SNP	ENST00000256999.2	37	CCDS7946.1																																																																																				0.284	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476		T	49186293	C	T	49186293	2	4	753	1	0	0	0	0	0	0	0	1	5981	755	27	1		1	FOLH1	11	49186293	Silent	SNP	C	TCGA-KO-8413-01A-11D-2310-10	44282528	49186293	85820223	29	44357											
OR5M9	390162	broad.mit.edu	37	11	56230414	56230414	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr11:56230414A>G	ENST00000279791.1	-	1	463	c.464T>C	c.(463-465)cTa>cCa	p.L155P		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	155						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)					TGTGCATATTAGGCTGACAGA	0.458																																																0													94	96	96					11																	56230414		2201	4296	6497	SO:0001583	missense	390162			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.464T>C	11.37:g.56230414A>G	ENSP00000279791:p.Leu155Pro		Q6IEW5|Q96RB9	Missense_Mutation	SNP	ENST00000279791.1	37	CCDS31531.1	.	.	.	.	.	.	.	.	.	.	A	12.97	2.096068	0.36952	.	.	ENSG00000150269	ENST00000279791	T	0.00285	8.3	4.63	4.63	0.57726	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37219	N	0.002191	T	0.00724	0.0024	M	0.92026	3.265	0.25397	N	0.988475	D	0.71674	0.998	D	0.76575	0.988	T	0.28808	-1.0032	10	0.66056	D	0.02	-3.3219	7.1803	0.25768	0.8977:0.0:0.1023:0.0	.	155	Q8NGP3	OR5M9_HUMAN	P	155	ENSP00000279791:L155P	ENSP00000279791:L155P	L	-	2	0	OR5M9	55986990	0.000000	0.05858	0.091000	0.20842	0.438000	0.31896	1.335000	0.33839	1.847000	0.53656	0.443000	0.29094	CTA		0.458	OR5M9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391638.1	NM_001004743		G	56230414	A	G	56230414	3	3	753	1	0	0	0	0	1	0	0	0	11179	420	15	3	470	3	OR5M9	11	56230414	Missense_Mutation	SNP	A	TCGA-KO-8413-01A-11D-2310-10	7044121	56230414	78776102	30	44358											
MYO7A	4647	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	11	76924024	76924024	+	Missense_Mutation	SNP	A	A	T	rs539755538		TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr11:76924024A>T	ENST00000409709.3	+	47	6654	c.6382A>T	c.(6382-6384)Atc>Ttc	p.I2128F	MYO7A_ENST00000605744.1_3'UTR|MYO7A_ENST00000409619.2_Missense_Mutation_p.I2079F|MYO7A_ENST00000458637.2_Missense_Mutation_p.I2088F	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	2128	FERM 2. {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						CTTCCCTGAGATCCTCCTAAT	0.517																																																0													86	73	77					11																	76924024		1938	4137	6075	SO:0001583	missense	4647			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.6382A>T	11.37:g.76924024A>T	ENSP00000386331:p.Ile2128Phe		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	37	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	A	14.67	2.603818	0.46423	.	.	ENSG00000137474	ENST00000409709;ENST00000458637;ENST00000409619;ENST00000545136;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000458169	T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93	4.74	3.62	0.41486	FERM domain (1);Pleckstrin homology-type (1);	0.049218	0.85682	D	0.000000	T	0.73713	0.3622	M	0.65975	2.015	0.54753	D	0.999981	P;B	0.40909	0.732;0.413	P;B	0.48598	0.583;0.142	T	0.66999	-0.5781	10	0.17369	T	0.5	.	6.986	0.24729	0.7717:0.1495:0.0788:0.0	.	2088;2128	F8VUN5;Q13402	.;MYO7A_HUMAN	F	2128;2088;2079;1301;2127;2097;2004;1270	ENSP00000386331:I2128F;ENSP00000392185:I2088F;ENSP00000386635:I2079F;ENSP00000417017:I1270F	ENSP00000345075:I2004F	I	+	1	0	MYO7A	76601672	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.068000	0.57534	0.777000	0.33496	0.477000	0.44152	ATC		0.517	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		T	76924024	A	T	76924024	3	4	753	1	0	0	0	0	1	0	0	0	10084	333	12	5	6598	5	MYO7A	11	76924024	Missense_Mutation	SNP	A	TCGA-KO-8413-01A-11D-2310-10	20693610	76924024	58082492	31	44359											
PRB2	653247	hgsc.bcm.edu	37	12	11546874	11546874	+	Silent	SNP	T	T	C	rs534885201	byFrequency	TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr12:11546874T>C	ENST00000389362.4	-	3	173	c.138A>G	c.(136-138)aaA>aaG	p.K46K	PRB1_ENST00000546254.1_Intron|PRB2_ENST00000545829.1_5'Flank	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	46						extracellular region (GO:0005576)		p.K46K(1)|p.?(1)|p.A39_G59delAPPQGGNKPQGPPSPPGKPQG(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GACCTTGAGGTTTGTTGCCTC	0.532													C|||	2	0.000399361	0.0	0.0014	5008	,	,		17866	0.001		0.0	False		,,,				2504	0.0															3	Unknown(1)|Substitution - coding silent(1)|Deletion - In frame(1)	stomach(3)											126	141	136					12																	11546874		2156	4278	6434	SO:0001819	synonymous_variant	653247			K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.138A>G	12.37:g.11546874T>C			O00599|P02811|P04281	Silent	SNP	ENST00000389362.4	37	CCDS41757.2																																																																																				0.532	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		C	11546874	T	C	11546874	2	2	753	1	0	0	0	0	0	0	0	1	12448	1722	60	3		3	PRB2	12	11546874	Silent	SNP	T	TCGA-KO-8413-01A-11D-2310-10		11546874	122305021	32	44360											
NCOR2	9612	broad.mit.edu	37	12	124819113	124819113	+	Silent	SNP	T	T	G			TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr12:124819113T>G	ENST00000405201.1	-	41	6462	c.6462A>C	c.(6460-6462)gcA>gcC	p.A2154A	NCOR2_ENST00000404621.1_Silent_p.A2144A|NCOR2_ENST00000429285.2_Silent_p.A2144A|NCOR2_ENST00000356219.3_Silent_p.A2161A|NCOR2_ENST00000404121.2_Silent_p.A1715A|NCOR2_ENST00000397355.1_Silent_p.A2145A			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2165					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)		CGGGCAGGGGTGCGCTGAGCT	0.692																																																0													6	9	8					12																	124819113		2041	4111	6152	SO:0001819	synonymous_variant	9612			U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"nuclear receptor co-repressor 2"			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.6462A>C	12.37:g.124819113T>G			O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Silent	SNP	ENST00000405201.1	37	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	t	1.066	-0.671344	0.03403	.	.	ENSG00000196498	ENST00000443451	.	.	.	4.4	-6.49	0.01890	.	.	.	.	.	T	0.34106	0.0886	.	.	.	0.35397	D	0.791261	.	.	.	.	.	.	T	0.39722	-0.9600	4	.	.	.	-0.8161	2.2268	0.03986	0.1512:0.1274:0.3748:0.3466	.	.	.	.	P	27	.	.	H	-	2	0	NCOR2	123385066	0.008000	0.16893	0.012000	0.15200	0.049000	0.14656	-1.776000	0.01781	-1.142000	0.02869	-0.618000	0.04049	CAC		0.692	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		G	124819113	T	G	124819113	2	3	753	1	0	0	0	0	0	0	0	1	10238	1683	59	5		5	NCOR2	12	124819113	Silent	SNP	T	TCGA-KO-8413-01A-11D-2310-10	113272239	124819113	9032782	33	44361											
MAP3K9	4293	broad.mit.edu	37	14	71206799	71206799	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr14:71206799delA	ENST00000554752.2	-	7	1649	c.1650delT	c.(1648-1650)cctfs	p.P550fs	MAP3K9_ENST00000553414.1_Frame_Shift_Del_p.P244fs|MAP3K9_ENST00000555993.2_Frame_Shift_Del_p.P550fs|MAP3K9_ENST00000381250.4_Frame_Shift_Del_p.P550fs|MAP3K9_ENST00000554146.1_Frame_Shift_Del_p.P287fs	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	550					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)		TGGGGCTTGCAGGAGGACTGG	0.552																																					GBM(114;411 1587 13539 28235 50070)											0													149	135	140					14																	71206799		2203	4300	6503	SO:0001589	frameshift_variant	4293			AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.1650delT	14.37:g.71206799delA	ENSP00000451612:p.Pro550fs		A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Frame_Shift_Del	DEL	ENST00000554752.2	37																																																																																					0.552	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2			-	71206799	A	-	71206799	7	5	753	1	0	1	0	1	0	0	0	0	9259	175	7	0	1734	0	MAP3K9	14	71206799	Frame_Shift_Del	DEL	A	TCGA-KO-8413-01A-11D-2310-10		71206799	36142741	34	44362											
C14orf4	64207	broad.mit.edu	37	14	77493792	77493794	+	In_Frame_Del	DEL	TGT	TGT	-	rs377151545|rs28718623|rs71125518	byFrequency	TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	TGT	TGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr14:77493792_77493794delTGT	ENST00000238647.3	-	1	1240_1242	c.342_344delACA	c.(340-345)caacag>cag	p.114_115QQ>Q		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	114	Poly-Gln.				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						ctgctgctgctgttgctgctgct	0.7																																																0										1119,1147		390,339,404						-1.3	0			2	2585,1523		1057,471,526	no	coding	IRF2BPL	NM_024496.2		1447,810,930	A1A1,A1R,RR		37.074,49.3822,41.8889				3704,2670				SO:0001651	inframe_deletion	64207			AJ277365	CCDS9854.1	14q24.3	2011-02-23	2011-02-23	2011-02-23	ENSG00000119669	ENSG00000119669			14282	protein-coding gene	gene with protein product	"enhanced at puberty 1"	611720	"chromosome 14 open reading frame 4"	C14orf4		11095982, 17627301	Standard	NM_024496		Approved	EAP1, KIAA1865	uc001xsy.4	Q9H1B7		ENST00000238647.3:c.342_344delACA	14.37:g.77493792_77493794delTGT	ENSP00000238647:p.Gln127del		Q8NDQ2|Q96JG2|Q9H3I7	In_Frame_Del	DEL	ENST00000238647.3	37	CCDS9854.1																																																																																				0.7	IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414298.1	NM_024496		-	77493794	TGT	-	77493792	7	5	753	1	0	1	0	1	0	0	0	0	1775	1580	55	0	2050	0	C14orf4	14	77493792	In_Frame_Del	DEL	TGT	TCGA-KO-8413-01A-11D-2310-10	6286993	77493792	29855748	35	44363											
AHNAK2	113146	mdanderson.org	37	14	105415691	105415691	+	Missense_Mutation	SNP	T	T	C	rs199921891		TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr14:105415691T>C	ENST00000333244.5	-	7	6216	c.6097A>G	c.(6097-6099)Acc>Gcc	p.T2033A	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2033						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)			AGGTCAGTGGTCTTCAGGTCC	0.662																																																0													111	80	90					14																	105415691		1929	4059	5988	SO:0001583	missense	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.6097A>G	14.37:g.105415691T>C	ENSP00000353114:p.Thr2033Ala		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	-	4.415	0.076697	0.08485	.	.	ENSG00000185567	ENST00000333244	T	0.02916	4.11	3.87	1.35	0.21983	.	.	.	.	.	T	0.01627	0.0052	N	0.17345	0.48	0.09310	N	1	B	0.15141	0.012	B	0.21360	0.034	T	0.49312	-0.8953	9	0.07990	T	0.79	-38.0818	3.0595	0.06195	0.0:0.2131:0.2467:0.5403	.	2033	Q8IVF2	AHNK2_HUMAN	A	2033	ENSP00000353114:T2033A	ENSP00000353114:T2033A	T	-	1	0	AHNAK2	104486736	0.003000	0.15002	0.349000	0.25694	0.166000	0.22503	0.346000	0.19997	0.370000	0.24538	0.397000	0.26171	ACC		0.662	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		C	105415691	T	C	105415691	3	2	753	1	0	0	0	0	1	0	0	0	415	1667	58	3	11294	3	AHNAK2	14	105415691	Missense_Mutation	SNP	T	TCGA-KO-8413-01A-11D-2310-10	27921899	105415691	1933849	36	44364											
GOLGA6D	653643	mdanderson.org	37	15	75586689	75586689	+	Splice_Site	SNP	T	T	A	rs201430576	byFrequency	TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr15:75586689T>A	ENST00000434739.3	+	18	1996	c.1955T>A	c.(1954-1956)gTt>gAt	p.V652D	RN7SL327P_ENST00000488659.2_RNA	NM_001145224.1	NP_001138696.1	P0CG33	GOG6D_HUMAN	golgin A6 family, member D	652						Golgi apparatus (GO:0005794)				kidney(1)|lung(1)	2						CTCTCCGAAGTTTTTTATGAA	0.617													a|||	236	0.0471246	0.1157	0.0548	5008	,	,		15529	0.0298		0.002	False		,,,				2504	0.0133															0													8	15	13					15																	75586689		633	1578	2211	SO:0001630	splice_region_variant	653643				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.1955-1T>A	15.37:g.75586689T>A				Missense_Mutation	SNP	ENST00000434739.3	37	CCDS45308.1	.	.	.	.	.	.	.	.	.	.	A	0.005	-2.147222	0.00328	.	.	ENSG00000140478	ENST00000434739	T	0.19669	2.13	1.63	-0.857	0.10693	.	.	.	.	.	T	0.02649	0.0080	N	0.00062	-2.325	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36648	-0.9739	8	.	.	.	.	2.1621	0.03827	0.3879:0.0:0.3567:0.2555	.	652	P0CG33	GOG6D_HUMAN	D	652	ENSP00000391085:V652D	.	V	+	2	0	GOLGA6D	73373742	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.546000	0.23284	-0.743000	0.04784	-0.937000	0.02696	GTT		0.617	GOLGA6D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419798.1	NM_001145224	Missense_Mutation	A	75586689	T	A	75586689	5	1	753	1	0	0	0	0	0	0	1	0	6562	1739	60	5	2025	5	GOLGA6D	15	75586689	Splice_Site	SNP	T	TCGA-KO-8413-01A-11D-2310-10		75586689	26944703	37	44365											
SMG1	23049	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	16	18849726	18849726	+	Missense_Mutation	SNP	G	G	T			TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr16:18849726G>T	ENST00000446231.2	-	44	7559	c.7147C>A	c.(7147-7149)Ctg>Atg	p.L2383M	SMG1_ENST00000389467.3_Missense_Mutation_p.L2383M			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2383	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				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						GTTACACCCAGTGCTGTTTCA	0.373																																																0													198	183	188					16																	18849726		1884	4122	6006	SO:0001583	missense	23049			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase-related kinase"	607032	"smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.7147C>A	16.37:g.18849726G>T	ENSP00000402515:p.Leu2383Met		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.068487	0.55539	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.81163	-1.46;-1.46	5.87	2.86	0.33363	Protein kinase-like domain (1);Armadillo-type fold (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.53938	D	0.000051	T	0.77572	0.4150	N	0.25031	0.7	0.33860	D	0.633718	P	0.44380	0.834	P	0.55923	0.787	T	0.79055	-0.1960	10	0.32370	T	0.25	.	10.4288	0.44395	0.2602:0.0:0.7398:0.0	.	2383	Q96Q15	SMG1_HUMAN	M	2383	ENSP00000402515:L2383M;ENSP00000374118:L2383M	ENSP00000374118:L2383M	L	-	1	2	SMG1	18757227	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	2.877000	0.48506	0.485000	0.27652	0.655000	0.94253	CTG		0.373	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		T	18849726	G	T	18849726	3	4	753	1	0	0	0	0	1	0	0	0	14801	1020	36	4	3918	4	SMG1	16	18849726	Missense_Mutation	SNP	G	TCGA-KO-8413-01A-11D-2310-10		18849726	71505027	38	44366											
GPR139	124274	broad.mit.edu	37	16	20084858	20084858	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr16:20084858delG	ENST00000570682.1	-	1	381	c.81delC	c.(79-81)ttcfs	p.F27fs		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	27					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						CCACGGGCACGAAACCCAAGC	0.682																																																0													35	35	35					16																	20084858		2199	4299	6498	SO:0001589	frameshift_variant	124274			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.81delC	16.37:g.20084858delG	ENSP00000458791:p.Phe27fs		A8K5R9|Q86SP2|Q8TDU8	Frame_Shift_Del	DEL	ENST00000570682.1	37	CCDS32398.1																																																																																				0.682	GPR139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438522.1	NM_001002911		-	20084858	G	-	20084858	7	5	753	1	0	1	0	1	0	0	0	0	6650	1049	37	0	988	0	GPR139	16	20084858	Frame_Shift_Del	DEL	G	TCGA-KO-8413-01A-11D-2310-10	1235132	20084858	70269895	39	44367											
DDX19A	55308	broad.mit.edu	37	16	70405336	70405336	+	Silent	SNP	G	G	A			TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr16:70405336G>A	ENST00000302243.7	+	11	1408	c.1245G>A	c.(1243-1245)ggG>ggA	p.G415G	DDX19A_ENST00000417604.2_Silent_p.G384G|DDX19A_ENST00000443119.2_Silent_p.G325G	NM_018332.3	NP_060802.1	Q9NUU7	DD19A_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 19A	415	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)				ACAAGGACGGGAATCCTGACA	0.557																																																0													57	52	54					16																	70405336		2197	4280	6477	SO:0001819	synonymous_variant	55308			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.1245G>A	16.37:g.70405336G>A			B2RPL0|B4DRZ7|Q53FM0	Silent	SNP	ENST00000302243.7	37	CCDS10889.1																																																																																				0.557	DDX19A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268967.2	NM_018332		A	70405336	G	A	70405336	2	1	753	1	0	0	0	0	0	0	0	1	4348	1161	41	2		2	DDX19A	16	70405336	Silent	SNP	G	TCGA-KO-8413-01A-11D-2310-10	50320478	70405336	19949417	40	44368											
TP53	7157	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A	rs397516436		TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr17:7578212G>A	ENST00000269305.4	-	6	826	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000420246.2_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)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	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)	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)	GRCh37	CM951226	TP53	M							132	118	123					17																	7578212		2203	4300	6503	SO:0001587	stop_gained	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.637C>T	17.37:g.7578212G>A	ENSP00000269305:p.Arg213*		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	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		A	7578212	G	A	7578212	4	1	753	1	0	0	0	0	0	1	0	0	16386	1066	37	1	657	1	TP53	17	7578212	Nonsense_Mutation	SNP	G	TCGA-KO-8413-01A-11D-2310-10		7578212	73616998	41	44369											
SNF8	11267	bcgsc.ca	37	17	47010703	47010703	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr17:47010703T>C	ENST00000502492.1	-	6	810	c.428A>G	c.(427-429)gAc>gGc	p.D143G	AC091133.1_ENST00000435491.1_RNA|SNF8_ENST00000290330.3_Missense_Mutation_p.D143G|SNF8_ENST00000514089.1_5'UTR			Q96H20	SNF8_HUMAN	SNF8, ESCRT-II complex subunit	143					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|lung(1)	3						TCTGATCAGGTCATCTCTGAG	0.502																																																0													162	141	148					17																	47010703		2203	4300	6503	SO:0001583	missense	11267			AF156102	CCDS11541.1	17q21.32	2013-06-05	2013-06-05		ENSG00000159210	ENSG00000159210			17028	protein-coding gene	gene with protein product		610904	"SNF8, ESCRT-II complex subunit, homolog (S. cerevisiae)"			10419521, 15329733	Standard	NM_007241		Approved	EAP30, VPS22, Dot3	uc002ioj.3	Q96H20	OTTHUMG00000160569	ENST00000502492.1:c.428A>G	17.37:g.47010703T>C	ENSP00000421380:p.Asp143Gly		Q8IXY3|Q9UN50	Missense_Mutation	SNP	ENST00000502492.1	37	CCDS11541.1	.	.	.	.	.	.	.	.	.	.	T	16.25	3.071558	0.55646	.	.	ENSG00000159210	ENST00000502492;ENST00000290330	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.82962	0.5151	M	0.93106	3.38	0.80722	D	1	D;D	0.54397	0.958;0.966	P;P	0.54856	0.649;0.762	D	0.87276	0.2289	9	0.87932	D	0	-32.4767	16.2903	0.82747	0.0:0.0:0.0:1.0	.	143;143	Q96H20-2;Q96H20	.;SNF8_HUMAN	G	143	.	ENSP00000290330:D143G	D	-	2	0	SNF8	44365702	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.794000	0.85869	2.326000	0.78906	0.533000	0.62120	GAC		0.502	SNF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000361172.1	NM_007241		C	47010703	T	C	47010703	3	2	753	1	0	0	0	0	1	0	0	0	14852	1667	58	3	360	3	SNF8	17	47010703	Missense_Mutation	SNP	T	TCGA-KO-8413-01A-11D-2310-10	39432491	47010703	34184507	42	44370											
FAM100B	283991	mdanderson.org	37	17	74261677	74261677	+	Silent	SNP	T	T	C	rs2585751	byFrequency	TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr17:74261677T>C	ENST00000327490.6	+	1	395	c.91T>C	c.(91-93)Ttg>Ctg	p.L31L	UBALD2_ENST00000589240.1_5'Flank	NM_182565.3	NP_872371.1	Q8IYN6	UBAD2_HUMAN	UBA-like domain containing 2	31																	GGCGAAGCAGTTGCTGCAGGC	0.766													C|||	3578	0.714457	0.8843	0.6412	5008	,	,		3805	0.7024		0.5547	False		,,,				2504	0.7137															0								C		3526,686		1494,538,74	10	12	11		91	2.6	1	17	dbSNP_100	11	4861,3485		1480,1901,792	no	coding-synonymous	FAM100B	NM_182565.3		2974,2439,866	CC,CT,TT		41.7565,16.2868,33.2139		31/165	74261677	8387,4171	2106	4173	6279	SO:0001819	synonymous_variant	283991				CCDS11742.1	17q25.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000185262	ENSG00000185262			28438	protein-coding gene	gene with protein product			"family with sequence similarity 100, member B"	FAM100B			Standard	NM_182565		Approved	MGC29814	uc010wsy.1	Q8IYN6	OTTHUMG00000132666	ENST00000327490.6:c.91T>C	17.37:g.74261677T>C				Silent	SNP	ENST00000327490.6	37	CCDS11742.1																																																																																				0.766	UBALD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255920.1	NM_182565		C	74261677	T	C	74261677	2	2	753	1	0	0	0	0	0	0	0	1	5381	1722	60	3		3	FAM100B	17	74261677	Silent	SNP	T	TCGA-KO-8413-01A-11D-2310-10	27250974	74261677	6933533	43	44371											
ZNF521	25925	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	18	22807259	22807259	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr18:22807259C>T	ENST00000361524.3	-	4	771	c.623G>A	c.(622-624)cGc>cAc	p.R208H	ZNF521_ENST00000584787.1_5'UTR|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000538137.2_Missense_Mutation_p.R208H	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	208					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)					AAACCCACGGCGACAAATGGC	0.493			T	PAX5	ALL																																		Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	0													88	83	85					18																	22807259		2203	4300	6503	SO:0001583	missense	25925			AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"Zinc fingers, C2H2-type"	24605	protein-coding gene	gene with protein product	"early hematopoietic zinc finger"	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.623G>A	18.37:g.22807259C>T	ENSP00000354794:p.Arg208His		A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	C	11.57	1.679010	0.29783	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.14893	2.47;2.47	5.98	5.98	0.97165	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.25232	0.0613	N	0.16307	0.4	0.36028	D	0.839201	D	0.76494	0.999	D	0.66716	0.946	T	0.16630	-1.0396	10	0.87932	D	0	-41.7226	13.6203	0.62134	0.0:0.9294:0.0:0.0706	.	208	Q96K83	ZN521_HUMAN	H	208;242;208	ENSP00000354794:R208H;ENSP00000382352:R208H	ENSP00000354794:R208H	R	-	2	0	ZNF521	21061257	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.743000	0.68655	2.838000	0.97847	0.655000	0.94253	CGC		0.493	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		T	22807259	C	T	22807259	3	4	753	1	0	0	0	0	1	0	0	0	17970	768	27	1	3332	1	ZNF521	18	22807259	Missense_Mutation	SNP	C	TCGA-KO-8413-01A-11D-2310-10		22807259	55269989	44	44372											
EPOR	2057	ucsc.edu	37	19	11488817	11488817	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr19:11488817A>G	ENST00000222139.6	-	8	1474	c.1370T>C	c.(1369-1371)cTt>cCt	p.L457P	EPOR_ENST00000592375.2_3'UTR	NM_000121.3	NP_000112.1	P19235	EPOR_HUMAN	erythropoietin receptor	457					brain development (GO:0007420)|decidualization (GO:0046697)|erythropoietin-mediated signaling pathway (GO:0038162)|heart development (GO:0007507)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	erythropoietin receptor activity (GO:0004900)|identical protein binding (GO:0042802)			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)|Epoetin Zeta(DB08923)|Peginesatide(DB08894)	AGATACCACAAGGTACAGGTA	0.577											OREG0025254	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													69	74	72					19																	11488817		2203	4300	6503	SO:0001583	missense	2057			M34986	CCDS12260.1	19p13.3-p13.2	2013-02-11				ENSG00000187266		"Fibronectin type III domain containing"	3416	protein-coding gene	gene with protein product		133171					Standard	NM_000121		Approved		uc002mrj.2	P19235		ENST00000222139.6:c.1370T>C	19.37:g.11488817A>G	ENSP00000222139:p.Leu457Pro	672	B2RCG4|Q15443|Q2M205	Missense_Mutation	SNP	ENST00000222139.6	37	CCDS12260.1	.	.	.	.	.	.	.	.	.	.	A	15.93	2.977074	0.53720	.	.	ENSG00000187266	ENST00000222139	T	0.44482	0.92	4.82	4.82	0.62117	.	0.710381	0.13856	N	0.358052	T	0.50086	0.1595	L	0.32530	0.975	0.53688	D	0.999979	D	0.76494	0.999	D	0.70716	0.97	T	0.49113	-0.8973	10	0.87932	D	0	-36.5626	7.9588	0.30060	0.8174:0.0:0.0:0.1826	.	457	P19235	EPOR_HUMAN	P	457	ENSP00000222139:L457P	ENSP00000222139:L457P	L	-	2	0	EPOR	11349817	0.998000	0.40836	0.751000	0.31187	0.801000	0.45260	4.194000	0.58393	1.793000	0.52555	0.454000	0.30748	CTT		0.577	EPOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458791.1			G	11488817	A	G	11488817	3	3	753	1	0	0	0	0	1	0	0	0	5191	72	3	3	160	3	EPOR	19	11488817	Missense_Mutation	SNP	A	TCGA-KO-8413-01A-11D-2310-10		11488817	47640166	45	44373											
MYH14	79784	ucsc.edu	37	19	50755954	50755954	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr19:50755954T>C	ENST00000596571.1	+	14	1865	c.1865T>C	c.(1864-1866)gTc>gCc	p.V622A	MYH14_ENST00000440075.2_Missense_Mutation_p.V630A|MYH14_ENST00000425460.1_Missense_Mutation_p.V630A|MYH14_ENST00000376970.2_Missense_Mutation_p.V622A|MYH14_ENST00000601313.1_Missense_Mutation_p.V630A|MYH14_ENST00000598205.1_Missense_Mutation_p.V630A|MYH14_ENST00000262269.8_Missense_Mutation_p.V630A			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	622	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)		AATGACAACGTCGCAGCCTTG	0.587																																																0													50	51	51					19																	50755954		2183	4294	6477	SO:0001583	missense	79784			AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"Myosins / Myosin superfamily : Class II"	23212	protein-coding gene	gene with protein product		608568	"myosin, heavy polypeptide 14", "myosin, heavy chain 14"	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.1865T>C	19.37:g.50755954T>C	ENSP00000472819:p.Val622Ala		B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	ENST00000596571.1	37	CCDS59411.1	.	.	.	.	.	.	.	.	.	.	T	18.34	3.601434	0.66445	.	.	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31	4.35	4.35	0.52113	Myosin head, motor domain (2);	.	.	.	.	D	0.92103	0.7497	M	0.76574	2.34	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.997	D;D;D	0.72075	0.953;0.976;0.959	D	0.92773	0.6234	9	0.87932	D	0	.	11.8047	0.52147	0.0:0.0:0.0:1.0	.	630;622;630	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	A	622;630;622;630;622;630	ENSP00000406273:V630A;ENSP00000366169:V622A;ENSP00000407879:V630A;ENSP00000262269:V630A	ENSP00000262269:V630A	V	+	2	0	MYH14	55447766	1.000000	0.71417	0.164000	0.22755	0.365000	0.29674	6.077000	0.71275	1.961000	0.56991	0.379000	0.24179	GTC		0.587	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		C	50755954	T	C	50755954	3	2	753	1	0	0	0	0	1	0	0	0	10035	1667	58	3	1947	3	MYH14	19	50755954	Missense_Mutation	SNP	T	TCGA-KO-8413-01A-11D-2310-10	39267137	50755954	8373029	46	44374											
ZNF808	388558	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	53057816	53057816	+	Missense_Mutation	SNP	G	G	T			TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr19:53057816G>T	ENST00000359798.4	+	5	1827	c.1647G>T	c.(1645-1647)atG>atT	p.M549I		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	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)			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		AGGTTTTCATGCGTAATTCAG	0.398																																																0													141	152	148					19																	53057816		2203	4300	6503	SO:0001583	missense	388558			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.1647G>T	19.37:g.53057816G>T	ENSP00000352846:p.Met549Ile		Q68CN7	Missense_Mutation	SNP	ENST00000359798.4	37	CCDS46167.1	.	.	.	.	.	.	.	.	.	.	.	0.142	-1.101126	0.01843	.	.	ENSG00000198482	ENST00000359798	T	0.35048	1.33	1.51	-3.03	0.05429	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11452	0.0279	N	0.02876	-0.465	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.12708	-1.0537	9	0.30078	T	0.28	.	0.8882	0.01249	0.153:0.2176:0.318:0.3114	.	549	Q8N4W9	ZN808_HUMAN	I	549	ENSP00000352846:M549I	ENSP00000352846:M549I	M	+	3	0	ZNF808	57749628	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-10.447000	0.00006	-1.967000	0.01008	0.205000	0.17691	ATG		0.398	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350447.3	NM_001039886		T	53057816	G	T	53057816	3	4	753	1	0	0	0	0	1	0	0	0	18178	1319	46	4	1657	4	ZNF808	19	53057816	Missense_Mutation	SNP	G	TCGA-KO-8413-01A-11D-2310-10	2301862	53057816	6071167	47	44375											
ZNF587	84914	mdanderson.org	37	19	58371202	58371202	+	Silent	SNP	C	C	T			TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr19:58371202C>T	ENST00000339656.5	+	3	1604	c.1422C>T	c.(1420-1422)ggC>ggT	p.G474G	ZNF814_ENST00000596604.1_Intron|ZNF587_ENST00000419854.1_Silent_p.G431G|ZNF587_ENST00000423137.1_Silent_p.G473G|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597652.1_5'Flank	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	474					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)		AATTATTTGGCAATAAGCACA	0.433																																					Pancreas(59;641 1233 1885 20055 50741)											0													154	150	151					19																	58371202		2203	4300	6503	SO:0001819	synonymous_variant	84914			AF294842	CCDS12964.1, CCDS56110.1	19q13.43	2013-01-08				ENSG00000198466		"Zinc fingers, C2H2-type", "-"	30955	protein-coding gene	gene with protein product						10520746	Standard	NM_032828		Approved	ZF6, FLJ14710, UBF-fl, FLJ20813	uc002qql.3	Q96SQ5	OTTHUMG00000154901	ENST00000339656.5:c.1422C>T	19.37:g.58371202C>T			A0AV72|G3V0H5|Q6ZMK8	Silent	SNP	ENST00000339656.5	37	CCDS12964.1																																																																																				0.433	ZNF587-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337594.2	NM_032828		T	58371202	C	T	58371202	2	4	753	1	0	0	0	0	0	0	0	1	18025	697	25	2		2	ZNF587	19	58371202	Silent	SNP	C	TCGA-KO-8413-01A-11D-2310-10	5313386	58371202	757781	48	44376	459	3									
ZNF587	84914	mdanderson.org	37	19	58371209	58371209	+	Missense_Mutation	SNP	C	C	A			TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr19:58371209C>A	ENST00000339656.5	+	3	1611	c.1429C>A	c.(1429-1431)Cac>Aac	p.H477N	ZNF814_ENST00000596604.1_Intron|ZNF587_ENST00000419854.1_Missense_Mutation_p.H434N|ZNF587_ENST00000423137.1_Missense_Mutation_p.H476N|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597652.1_5'Flank	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	477					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)		TGGCAATAAGCACAGCGTGAC	0.423																																					Pancreas(59;641 1233 1885 20055 50741)											0													158	150	153					19																	58371209		2203	4300	6503	SO:0001583	missense	84914			AF294842	CCDS12964.1, CCDS56110.1	19q13.43	2013-01-08				ENSG00000198466		"Zinc fingers, C2H2-type", "-"	30955	protein-coding gene	gene with protein product						10520746	Standard	NM_032828		Approved	ZF6, FLJ14710, UBF-fl, FLJ20813	uc002qql.3	Q96SQ5	OTTHUMG00000154901	ENST00000339656.5:c.1429C>A	19.37:g.58371209C>A	ENSP00000345479:p.His477Asn		A0AV72|G3V0H5|Q6ZMK8	Missense_Mutation	SNP	ENST00000339656.5	37	CCDS12964.1	.	.	.	.	.	.	.	.	.	.	.	6.087	0.384262	0.11524	.	.	ENSG00000198466	ENST00000376209;ENST00000423137;ENST00000339656;ENST00000540851;ENST00000419854	T;T;T	0.13196	2.61;2.61;2.61	0.882	-1.59	0.08453	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06554	0.0168	N	0.11106	0.095	0.23496	N	0.99756	B;B	0.15473	0.0;0.013	B;B	0.16289	0.0;0.015	T	0.27673	-1.0067	8	0.56958	D	0.05	.	5.9746	0.19371	0.0:0.4805:0.0:0.5195	.	476;477	G3V0H5;Q96SQ5	.;ZN587_HUMAN	N	434;476;477;477;434	ENSP00000393865:H476N;ENSP00000345479:H477N;ENSP00000406999:H434N	ENSP00000345479:H477N	H	+	1	0	ZNF587	63063021	0.000000	0.05858	0.000000	0.03702	0.370000	0.29829	-1.806000	0.01735	-0.644000	0.05465	0.195000	0.17529	CAC		0.423	ZNF587-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337594.2	NM_032828		A	58371209	C	A	58371209	3	1	753	1	0	0	0	0	1	0	0	0	18025	710	25	4	1439	4	ZNF587	19	58371209	Missense_Mutation	SNP	C	TCGA-KO-8413-01A-11D-2310-10	7	58371209	757774	49	44377	459	3									
ZNF587	84914	mdanderson.org	37	19	58371212	58371212	+	Missense_Mutation	SNP	A	A	T			TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr19:58371212A>T	ENST00000339656.5	+	3	1614	c.1432A>T	c.(1432-1434)Agc>Tgc	p.S478C	ZNF814_ENST00000596604.1_Intron|ZNF587_ENST00000419854.1_Missense_Mutation_p.S435C|ZNF587_ENST00000423137.1_Missense_Mutation_p.S477C|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597652.1_5'Flank	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	478					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)		CAATAAGCACAGCGTGACTAT	0.423																																					Pancreas(59;641 1233 1885 20055 50741)											0													156	149	152					19																	58371212		2203	4300	6503	SO:0001583	missense	84914			AF294842	CCDS12964.1, CCDS56110.1	19q13.43	2013-01-08				ENSG00000198466		"Zinc fingers, C2H2-type", "-"	30955	protein-coding gene	gene with protein product						10520746	Standard	NM_032828		Approved	ZF6, FLJ14710, UBF-fl, FLJ20813	uc002qql.3	Q96SQ5	OTTHUMG00000154901	ENST00000339656.5:c.1432A>T	19.37:g.58371212A>T	ENSP00000345479:p.Ser478Cys		A0AV72|G3V0H5|Q6ZMK8	Missense_Mutation	SNP	ENST00000339656.5	37	CCDS12964.1	.	.	.	.	.	.	.	.	.	.	.	7.068	0.567735	0.13560	.	.	ENSG00000198466	ENST00000376209;ENST00000423137;ENST00000339656;ENST00000540851;ENST00000419854	T;T;T	0.08008	3.14;3.14;3.14	0.882	-0.521	0.11931	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08980	0.0222	M	0.64630	1.985	0.24750	N	0.992985	B;B	0.27140	0.169;0.025	B;B	0.29598	0.104;0.033	T	0.20773	-1.0265	8	0.38643	T	0.18	.	4.8451	0.13510	0.7267:0.0:0.0:0.2733	.	477;478	G3V0H5;Q96SQ5	.;ZN587_HUMAN	C	435;477;478;478;435	ENSP00000393865:S477C;ENSP00000345479:S478C;ENSP00000406999:S435C	ENSP00000345479:S478C	S	+	1	0	ZNF587	63063024	0.000000	0.05858	0.000000	0.03702	0.344000	0.29017	-2.794000	0.00765	-0.256000	0.09473	0.164000	0.16699	AGC		0.423	ZNF587-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337594.2	NM_032828		T	58371212	A	T	58371212	3	4	753	1	0	0	0	0	1	0	0	0	18025	188	7	5	1442	5	ZNF587	19	58371212	Missense_Mutation	SNP	A	TCGA-KO-8413-01A-11D-2310-10	3	58371212	757771	50	44378	459	3									
LAMA5	3911	mdanderson.org	37	20	60887581	60887581	+	Missense_Mutation	SNP	G	G	A	rs944895	byFrequency	TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr20:60887581G>A	ENST00000252999.3	-	68	9301	c.9235C>T	c.(9235-9237)Cgg>Tgg	p.R3079W		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3079	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.		R -> W (in dbSNP:rs944895). {ECO:0000269|PubMed:11821406, ECO:0000269|PubMed:9271224, ECO:0000269|PubMed:9628581}.		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)			GGGAAGAGCCGTCGCAGGCTG	0.677													.|||	3391	0.677117	0.5666	0.6988	5008	,	,		15366	0.7411		0.6431	False		,,,				2504	0.7802															0									TRP/ARG	2500,1886	594.1+/-388.1	703,1094,396	31	29	30		9235	3.4	0.1	20	dbSNP_86	30	5600,2988	634.2+/-398.8	1810,1980,504	yes	missense	LAMA5	NM_005560.3	101	2513,3074,900	AA,AG,GG		34.7927,43.0005,37.5674	probably-damaging	3079/3696	60887581	8100,4874	2193	4294	6487	SO:0001583	missense	3911			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.9235C>T	20.37:g.60887581G>A	ENSP00000252999:p.Arg3079Trp		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	CCDS33502.1	1458	0.6675824175824175	280	0.5691056910569106	257	0.7099447513812155	425	0.743006993006993	496	0.6543535620052771	g	9.192	1.026390	0.19512	0.569995	0.652073	ENSG00000130702	ENST00000252999	T	0.78481	-1.18	4.36	3.38	0.38709	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	1.920180	0.02454	N	0.085827	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	D	0.58620	0.983	P	0.47376	0.545	T	0.48547	-0.9026	9	0.72032	D	0.01	.	3.2954	0.06964	0.0954:0.1438:0.5475:0.2134	rs944895;rs58677971;rs944895	3079	O15230	LAMA5_HUMAN	W	3079	ENSP00000252999:R3079W	ENSP00000252999:R3079W	R	-	1	2	LAMA5	60320976	0.000000	0.05858	0.064000	0.19789	0.038000	0.13279	-0.605000	0.05661	2.269000	0.75478	0.556000	0.70494	CGG		0.677	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		A	60887581	G	A	60887581	3	1	753	1	0	0	0	0	1	0	0	0	8611	1144	40	1	1904	1	LAMA5	20	60887581	Missense_Mutation	SNP	G	TCGA-KO-8413-01A-11D-2310-10		60887581	2137939	51	44379											
FRMPD4	9758	broad.mit.edu	37	X	12735002	12735002	+	Silent	SNP	C	C	T			TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chrX:12735002C>T	ENST00000380682.1	+	15	2930	c.2424C>T	c.(2422-2424)gcC>gcT	p.A808A		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	808					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						TGGCCATTGCCGCACCCCCAC	0.547																																																0													152	114	127					X																	12735002		2203	4300	6503	SO:0001819	synonymous_variant	9758			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.2424C>T	X.37:g.12735002C>T			A8K0X9|O15032	Silent	SNP	ENST00000380682.1	37	CCDS35201.1																																																																																				0.547	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		T	12735002	C	T	12735002	2	4	753	1	0	0	0	0	0	0	0	1	6061	639	23	1		1	FRMPD4	23	12735002	Silent	SNP	C	TCGA-KO-8413-01A-11D-2310-10		12735002	142535558	52	44380											
NUDT10	170685	mdanderson.org	37	X	51076024	51076024	+	Silent	SNP	G	G	A	rs143435240		TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	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)											8	Substitution - coding silent(8)	endometrium(5)|cervix(1)|prostate(1)|lung(1)											52	62	59					X																	51076024		2203	4300	6503	SO:0001819	synonymous_variant	170685			AF469196	CCDS35278.1	Xp11.22-p11.1	2014-05-20			ENSG00000122824	ENSG00000122824		"Nudix motif containing"	17621	protein-coding gene	gene with protein product		300527				12105228	Standard	NM_153183		Approved	DIPP3a, hDIPP3alpha	uc004dph.3	Q8NFP7	OTTHUMG00000021530	ENST00000376006.3:c.207G>A	X.37:g.51076024G>A			Q8NBN1|Q8NCB9|Q8NG25	Silent	SNP	ENST00000376006.3	37	CCDS35278.1																																																																																				0.657	NUDT10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056578.1	NM_153183		A	51076024	G	A	51076024	2	1	753	1	0	0	0	0	0	0	0	1	10728	991	35	2		2	NUDT10	23	51076024	Silent	SNP	G	TCGA-KO-8413-01A-11D-2310-10	38341022	51076024	104194536	53	44381											
BRWD3	254065	broad.mit.edu	37	X	79932729	79932729	+	Silent	SNP	T	T	C			TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chrX:79932729T>C	ENST00000373275.4	-	41	5004	c.4788A>G	c.(4786-4788)aaA>aaG	p.K1596K	BRWD3_ENST00000473691.1_5'Flank	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1596			K -> E (in MRX93; may be a rare polymorphism). {ECO:0000269|PubMed:17668385}.		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						GAGAtttctcttttgtttctt	0.408																																																0													72	64	66					X																	79932729		2203	4300	6503	SO:0001819	synonymous_variant	254065				CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"WD repeat domain containing"	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.4788A>G	X.37:g.79932729T>C			C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Silent	SNP	ENST00000373275.4	37	CCDS14447.1																																																																																				0.408	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		C	79932729	T	C	79932729	2	2	753	1	0	0	0	0	0	0	0	1	1528	1606	56	3		3	BRWD3	23	79932729	Silent	SNP	T	TCGA-KO-8413-01A-11D-2310-10	28856705	79932729	75337831	54	44382											
SPANXD	64648	broad.mit.edu;mdanderson.org	37	X	140785755	140785755	+	Missense_Mutation	SNP	C	C	T	rs368985448		TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chrX:140785755C>T	ENST00000370515.3	-	2	494	c.161G>A	c.(160-162)cGc>cAc	p.R54H		NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1	Q9BXN6	SPNXD_HUMAN	SPANX family, member D	54						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R54H(1)		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)					CCTCCTGTAGCGAACCACTAG	0.483																																																1	Substitution - Missense(1)	upper_aerodigestive_tract(1)						C	HIS/ARG	0,3834		0,0,1632,570	232	175	194		161		0	X		194	1,6715		0,1,2427,1860	no	missense	SPANXD	NM_032417.2	29	0,1,4059,2430	TT,TC,CC,C		0.0149,0.0,0.0095	probably-damaging	54/98	140785755	1,10549	2202	4288	6490	SO:0001583	missense	171489			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.161G>A	X.37:g.140785755C>T	ENSP00000359546:p.Arg54His		Q5JWI1	Missense_Mutation	SNP	ENST00000370515.3	37	CCDS14675.1	.	.	.	.	.	.	.	.	.	.	N	9.220	1.033247	0.19590	0.0	1.49E-4	ENSG00000196406	ENST00000370515	T	0.06933	3.24	.	.	.	.	.	.	.	.	T	0.11324	0.0276	.	.	.	0.09310	N	1	D	0.67145	0.996	P	0.59703	0.862	T	0.25641	-1.0126	6	0.15952	T	0.53	.	.	.	.	.	54	Q9BXN6	SPNXD_HUMAN	H	54	ENSP00000359546:R54H	ENSP00000359546:R54H	R	-	2	0	SPANXD	140613421	0.006000	0.16342	0.001000	0.08648	0.006000	0.05464	0.064000	0.14437	-0.506000	0.06558	0.068000	0.15388	CGC		0.483	SPANXD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058598.1			T	140785755	C	T	140785755	3	4	753	1	0	0	0	0	1	0	0	0	14994	768	27	1	136	1	SPANXD	23	140785755	Missense_Mutation	SNP	C	TCGA-KO-8413-01A-11D-2310-10	60853026	140785755	14484805	55	44383											
CSMD2	114784	broad.mit.edu;mdanderson.org;bcgsc.ca	37	1	34037290	34037290	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr1:34037290T>C	ENST00000373381.4	-	51	7975	c.7799A>G	c.(7798-7800)gAg>gGg	p.E2600G		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2602	Sushi 16. {ECO:0000255|PROSITE- ProRule:PRU00302}.					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)				TCGGCCATGCTCCACGCTGAT	0.473																																																0													95	86	89					1																	34037290		2203	4300	6503	SO:0001583	missense	114784			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.7799A>G	1.37:g.34037290T>C	ENSP00000362479:p.Glu2600Gly		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37		.	.	.	.	.	.	.	.	.	.	T	21.9	4.222722	0.79464	.	.	ENSG00000121904	ENST00000373381	T	0.64991	-0.13	5.04	5.04	0.67666	Complement control module (2);Sushi/SCR/CCP (3);	0.057747	0.64402	D	0.000002	T	0.73869	0.3642	M	0.62154	1.92	0.80722	D	1	D;D	0.60575	0.976;0.988	D;D	0.64877	0.93;0.93	T	0.73852	-0.3852	10	0.39692	T	0.17	.	13.9546	0.64140	0.0:0.0:0.0:1.0	.	2602;2600	Q7Z408;E7EUA6	CSMD2_HUMAN;.	G	2600	ENSP00000362479:E2600G	ENSP00000241312:E2602G	E	-	2	0	CSMD2	33809877	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.198000	0.72106	1.900000	0.55004	0.460000	0.39030	GAG		0.473	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		C	34037290	T	C	34037290	3	2	754	1	0	0	0	0	1	0	0	0	3947	1551	54	3	2730	3	CSMD2	1	34037290	Missense_Mutation	SNP	T	TCGA-KO-8414-01A-11D-2310-10		34037290	215213331	1	44384											
PTPRF	5792	bcgsc.ca	37	1	44079334	44079334	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr1:44079334A>G	ENST00000359947.4	+	23	4359	c.4019A>G	c.(4018-4020)aAc>aGc	p.N1340S	PTPRF_ENST00000438120.1_Missense_Mutation_p.N1331S|PTPRF_ENST00000422171.2_Missense_Mutation_p.N699S|PTPRF_ENST00000372413.3_Missense_Mutation_p.N1331S|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372414.3_Missense_Mutation_p.N1340S	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1340					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)				CTGGCGGACAACATCGAGCGC	0.597																																																0													287	232	251					1																	44079334		2203	4300	6503	SO:0001583	missense	5792			Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.4019A>G	1.37:g.44079334A>G	ENSP00000353030:p.Asn1340Ser		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.20|16.20	3.055751|3.055751	0.55325|0.55325	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171;ENST00000372407|ENST00000429895	T;T;T;T;T;T|.	0.28895|.	1.59;1.59;1.59;1.59;1.59;1.59|.	5.24|5.24	5.24|5.24	0.73138|0.73138	.|.	0.000000|.	0.37012|.	N|.	0.002300|.	T|T	0.52435|0.52435	0.1734|0.1734	N|N	0.22421|0.22421	0.69|0.69	0.58432|0.58432	D|D	0.999999|0.999999	B;B;B;B;B|.	0.20459|.	0.002;0.033;0.045;0.024;0.004|.	B;B;B;B;B|.	0.11329|.	0.001;0.005;0.006;0.005;0.001|.	T|T	0.49447|0.49447	-0.8939|-0.8939	10|5	0.87932|.	D|.	0|.	.|.	15.4562|15.4562	0.75314|0.75314	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	985;699;917;1331;1340|.	Q59FI2;F2Z3B8;Q5W9G3;P10586-2;P10586|.	.;.;.;.;PTPRF_HUMAN|.	S|A	1340;1331;1340;1331;699;412|986	ENSP00000353030:N1340S;ENSP00000398822:N1331S;ENSP00000361491:N1340S;ENSP00000361490:N1331S;ENSP00000387885:N699S;ENSP00000361484:N412S|.	ENSP00000353030:N1340S|.	N|T	+|+	2|1	0|0	PTPRF|PTPRF	43851921|43851921	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.524000|0.524000	0.34500|0.34500	9.281000|9.281000	0.95811|0.95811	2.117000|2.117000	0.64856|0.64856	0.459000|0.459000	0.35465|0.35465	AAC|ACA		0.597	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			G	44079334	A	G	44079334	3	3	754	1	0	0	0	0	1	0	0	0	12807	43	2	3	4101	3	PTPRF	1	44079334	Missense_Mutation	SNP	A	TCGA-KO-8414-01A-11D-2310-10	10042044	44079334	205171287	2	44385											
LHX8	431707	broad.mit.edu	37	1	75622672	75622672	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr1:75622672T>C	ENST00000294638.5	+	9	1569	c.905T>C	c.(904-906)cTg>cCg	p.L302P	LHX8_ENST00000356261.3_Missense_Mutation_p.L292P	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	302					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						CCCTCCAGGCTGTCTCCACCC	0.507																																																0													255	222	233					1																	75622672		2203	4300	6503	SO:0001583	missense	431707			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.905T>C	1.37:g.75622672T>C	ENSP00000294638:p.Leu302Pro		E9PGE3	Missense_Mutation	SNP	ENST00000294638.5	37	CCDS30756.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.955095	0.73902	.	.	ENSG00000162624	ENST00000294638;ENST00000356261	D;D	0.87179	-2.22;-2.2	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.89643	0.6774	L	0.50333	1.59	0.80722	D	1	D	0.71674	0.998	D	0.79784	0.993	D	0.91167	0.4965	10	0.72032	D	0.01	.	15.2331	0.73407	0.0:0.0:0.0:1.0	.	302	Q68G74	LHX8_HUMAN	P	302;292	ENSP00000294638:L302P;ENSP00000348597:L292P	ENSP00000294638:L302P	L	+	2	0	LHX8	75395260	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.020000	0.76419	2.067000	0.61834	0.374000	0.22700	CTG		0.507	LHX8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026700.1	NM_001001933		C	75622672	T	C	75622672	3	2	754	1	0	0	0	0	1	0	0	0	8778	1580	55	3	935	3	LHX8	1	75622672	Missense_Mutation	SNP	T	TCGA-KO-8414-01A-11D-2310-10	31543338	75622672	173627949	3	44386											
DENND4B	9909	mdanderson.org	37	1	153907306	153907306	+	Silent	SNP	T	T	C	rs2275483|rs375088543|rs557071025	byFrequency	TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr1:153907306T>C	ENST00000361217.4	-	18	3121	c.2703A>G	c.(2701-2703)caA>caG	p.Q901Q	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	901	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.Q789Q(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	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)			gctgctgctgttgctgctgct	0.647													T|||	552	0.110224	0.0582	0.1441	5008	,	,		16993	0.1627		0.0378	False		,,,				2504	0.1769															2	Substitution - coding silent(2)	prostate(2)						T		25,4345		2,21,2162	31	40	37		2703	2.1	1	1	dbSNP_120	37	106,8456		7,92,4182	no	coding-synonymous	DENND4B	NM_014856.2		9,113,6344	CC,CT,TT		1.238,0.5721,1.013		901/1497	153907306	131,12801	2185	4281	6466	SO:0001819	synonymous_variant	9909			AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"DENN/MADD domain containing"	29044	protein-coding gene	gene with protein product			"KIAA0476"	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.2703A>G	1.37:g.153907306T>C			Q5T4K0	Silent	SNP	ENST00000361217.4	37	CCDS44228.1																																																																																				0.647	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		C	153907306	T	C	153907306	2	2	754	1	0	0	0	0	0	0	0	1	4436	1722	60	3		3	DENND4B	1	153907306	Silent	SNP	T	TCGA-KO-8414-01A-11D-2310-10	78284634	153907306	95343315	4	44387											
FCGR3B	2214	mdanderson.org	37	1	161599643	161599643	+	Intron	SNP	T	T	C	rs147574249	byFrequency	TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr1:161599643T>C	ENST00000540048.1	-	2	94				FCGR3B_ENST00000367964.2_Missense_Mutation_p.N82D|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000403078.3_Intron|FCGR2B_ENST00000367962.4_Intron|FCGR2B_ENST00000428605.2_Intron|FCGR3B_ENST00000531221.1_Missense_Mutation_p.N118D|FCGR3B_ENST00000294800.3_Missense_Mutation_p.N82D			P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)						Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	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)	CCACTGTCGTTGACTGTGGCA	0.537													t|||	1420	0.283546	0.3328	0.2709	5008	,	,		10033	0.4177		0.1332	False		,,,				2504	0.2423															0													94	104	101					1																	161599643		1988	4137	6125	SO:0001627	intron_variant	2215			BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3619	protein-coding gene	gene with protein product		146740	"Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000540048.1:c.61+514A>G	1.37:g.161599643T>C			A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Missense_Mutation	SNP	ENST00000540048.1	37		138|138	0.06318681318681318|0.06318681318681318	30|30	0.06097560975609756|0.06097560975609756	21|21	0.058011049723756904|0.058011049723756904	70|70	0.12237762237762238|0.12237762237762238	17|17	0.022427440633245383|0.022427440633245383	t|t	6.560|6.560	0.471594|0.471594	0.12461|0.12461	.|.	.|.	ENSG00000162747|ENSG00000162747	ENST00000367964;ENST00000294800;ENST00000531221;ENST00000534776|ENST00000421702	T;T;T;T|.	0.12147|.	2.71;2.71;2.71;2.71|.	2.79|2.79	-5.57|-5.57	0.02521|0.02521	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	1.165540|.	0.06257|.	N|.	0.693161|.	T|T	0.03136|0.03136	0.0092|0.0092	N|N	0.03930|0.03930	-0.32|-0.32	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.34054|0.34054	-0.9844|-0.9844	10|5	0.40728|.	T|.	0.16|.	.|.	6.7925|6.7925	0.23707|0.23707	0.0:0.1697:0.1395:0.6908|0.0:0.1697:0.1395:0.6908	.|.	82|.	O75015|.	FCG3B_HUMAN|.	D|R	82;82;118;65|102	ENSP00000356941:N82D;ENSP00000294800:N82D;ENSP00000433642:N118D;ENSP00000437084:N65D|.	ENSP00000294800:N82D|.	N|Q	-|-	1|2	0|0	FCGR3B|FCGR3B	159866267|159866267	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-3.414000|-3.414000	0.00479|0.00479	-1.905000|-1.905000	0.01090|0.01090	-0.575000|-0.575000	0.04146|0.04146	AAC|CAA		0.537	FCGR3A-203	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000569		C	161599643	T	C	161599643	1	2	754	0	1	0	0	0	0	0	0	0	5787	1812	63	3		3	FCGR3B	1	161599643	Intron	SNP	T	TCGA-KO-8414-01A-11D-2310-10	7692337	161599643	87650978	5	44388											
KIFAP3	22920	broad.mit.edu	37	1	170004687	170004687	+	Silent	SNP	G	G	A			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr1:170004687G>A	ENST00000361580.2	-	6	752	c.525C>T	c.(523-525)gcC>gcT	p.A175A	KIFAP3_ENST00000367765.1_Silent_p.A135A|KIFAP3_ENST00000490550.1_5'UTR|KIFAP3_ENST00000367767.1_Silent_p.A131A|KIFAP3_ENST00000538366.1_Silent_p.A97A	NM_014970.3	NP_055785.2	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	175					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|membrane organization (GO:0061024)|microtubule-based movement (GO:0007018)|microtubule-based process (GO:0007017)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of calcium-dependent cell-cell adhesion (GO:0046587)|protein complex assembly (GO:0006461)|protein localization (GO:0008104)|signal transduction (GO:0007165)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule cytoskeleton (GO:0015630)	kinesin binding (GO:0019894)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATGCACCAAGGGCAGTTTCTA	0.368																																																0													53	55	55					1																	170004687		2203	4300	6503	SO:0001819	synonymous_variant	22920			U59919	CCDS1288.1, CCDS55659.1, CCDS55660.1, CCDS55661.1	1q24.2	2012-09-20			ENSG00000075945	ENSG00000075945			17060	protein-coding gene	gene with protein product	"Smg GDS"	601836				8900189	Standard	NM_014970		Approved	SMAP, KAP3, FLA3, KAP-1	uc001ggv.3	Q92845	OTTHUMG00000035947	ENST00000361580.2:c.525C>T	1.37:g.170004687G>A			B1AKU4|B1AKU5|B2RDL1|B7Z8A3|F5H591|Q8NHU7|Q9H416	Silent	SNP	ENST00000361580.2	37	CCDS1288.1																																																																																				0.368	KIFAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087568.1	NM_014970		A	170004687	G	A	170004687	2	1	754	1	0	0	0	0	0	0	0	1	8313	1219	43	2		2	KIFAP3	1	170004687	Silent	SNP	G	TCGA-KO-8414-01A-11D-2310-10	8405044	170004687	79245934	6	44389											
LPIN1	23175	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	2	11907890	11907890	+	Splice_Site	SNP	T	T	A			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr2:11907890T>A	ENST00000256720.2	+	3	287	c.194T>A	c.(193-195)gTt>gAt	p.V65D	LPIN1_ENST00000396098.1_Splice_Site_p.V71D|LPIN1_ENST00000449576.2_Splice_Site_p.V114D|LPIN1_ENST00000425416.2_Splice_Site_p.V71D|MIR548S_ENST00000581352.1_RNA|LPIN1_ENST00000396099.1_Splice_Site_p.V71D	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	65	N-LIP.				cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		TCCCTTCAGGTTGACATAGAA	0.423																																																0													103	101	102					2																	11907890		2203	4300	6503	SO:0001630	splice_region_variant	23175			D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.193-1T>A	2.37:g.11907890T>A			A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Missense_Mutation	SNP	ENST00000256720.2	37	CCDS1682.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.568823	0.86439	.	.	ENSG00000134324	ENST00000449576;ENST00000396098;ENST00000396099;ENST00000425416;ENST00000256720;ENST00000441684	D;D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75;-1.75	4.89	4.89	0.63831	Lipin, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.93083	0.7798	M	0.94101	3.495	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.998	D	0.94838	0.8002	10	0.87932	D	0	-17.684	14.814	0.70017	0.0:0.0:0.0:1.0	.	114;65;71	F5GY24;Q14693;A8MU38	.;LPIN1_HUMAN;.	D	114;71;71;71;65;65	ENSP00000397908:V114D;ENSP00000379405:V71D;ENSP00000379406:V71D;ENSP00000401522:V71D;ENSP00000256720:V65D;ENSP00000412578:V65D	ENSP00000256720:V65D	V	+	2	0	LPIN1	11825341	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.898000	0.87363	1.947000	0.56498	0.533000	0.62120	GTT		0.423	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239296.3	NM_145693	Missense_Mutation	A	11907890	T	A	11907890	5	1	754	1	0	0	0	0	0	0	1	0	8920	1739	60	5	200	5	LPIN1	2	11907890	Splice_Site	SNP	T	TCGA-KO-8414-01A-11D-2310-10		11907890	231291483	7	44390											
ADRA2B	151	mdanderson.org	37	2	96780986	96780986	+	Silent	SNP	C	C	T	rs4426564|rs60083507|rs28365031|rs34667759|rs29000568	byFrequency	TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr2:96780986C>T	ENST00000409345.3	-	1	998	c.903G>A	c.(901-903)gaG>gaA	p.E301E		NM_000682.5	NP_000673	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	301	Asp/Glu-rich (acidic).				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)	cctcctcctcctcctcctctt	0.657														1245	0.248602	0.3517	0.1873	5008	,	,		17797	0.1766		0.2028	False		,,,				2504	0.274															0													11	14	13					2																	96780986		2095	4198	6293	SO:0001819	synonymous_variant	151			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.903G>A	2.37:g.96780986C>T			Q4TUH9|Q53RF2|Q9BZK0	Silent	SNP	ENST00000409345.3	37	CCDS56129.1																																																																																				0.657	ADRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334990.1			T	96780986	C	T	96780986	2	4	754	1	0	0	0	0	0	0	0	1	338	680	24	2		2	ADRA2B	2	96780986	Silent	SNP	C	TCGA-KO-8414-01A-11D-2310-10	84873096	96780986	146418387	8	44391											
OBSL1	23363	mdanderson.org	37	2	220417266	220417266	+	Missense_Mutation	SNP	C	C	T	rs59332477	byFrequency	TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr2:220417266C>T	ENST00000404537.1	-	18	5356	c.5300G>A	c.(5299-5301)cGa>cAa	p.R1767Q	OBSL1_ENST00000265318.4_3'UTR|OBSL1_ENST00000373876.1_Missense_Mutation_p.R1675Q	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1767					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)		ACCTTCCTGTCGGATGCGGAC	0.731													C|||	1886	0.376597	0.3495	0.5202	5008	,	,		10361	0.3819		0.4583	False		,,,				2504	0.2219															0								C	GLN/ARG	1409,2443		283,843,800	9	13	12		5300	4.6	1	2	dbSNP_129	12	3644,4534		865,1914,1310	yes	missense	OBSL1	NM_015311.2	43	1148,2757,2110	TT,TC,CC		44.5586,36.5784,42.0033	probably-damaging	1767/1897	220417266	5053,6977	1926	4089	6015	SO:0001583	missense	23363			BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.5300G>A	2.37:g.220417266C>T	ENSP00000385636:p.Arg1767Gln		A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	ENST00000404537.1	37	CCDS46520.1	913	0.41804029304029305	163	0.3313008130081301	168	0.46408839779005523	228	0.3986013986013986	354	0.46701846965699206	C	22.2	4.252406	0.80135	0.365784	0.445586	ENSG00000124006	ENST00000404537;ENST00000373876	T;T	0.66995	-0.24;-0.24	4.61	4.61	0.57282	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00012	0.0000	L	0.41356	1.27	0.09310	P	1.0	D	0.89917	1.0	D	0.85130	0.997	T	0.44997	-0.9291	8	0.20519	T	0.43	.	14.2902	0.66273	0.0:1.0:0.0:0.0	rs59332477;rs62191611	1767	O75147	OBSL1_HUMAN	Q	1767;1675	ENSP00000385636:R1767Q;ENSP00000362983:R1675Q	ENSP00000362983:R1675Q	R	-	2	0	OBSL1	220125510	0.997000	0.39634	1.000000	0.80357	0.840000	0.47671	3.585000	0.53943	2.390000	0.81377	0.655000	0.94253	CGA		0.731	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1			T	220417266	C	T	220417266	3	4	754	1	0	0	0	0	1	0	0	0	10815	884	31	1	406	1	OBSL1	2	220417266	Missense_Mutation	SNP	C	TCGA-KO-8414-01A-11D-2310-10	123636280	220417266	22782107	9	44392											
GPR35	2859	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	241570087	241570087	+	Missense_Mutation	SNP	C	C	T	rs377190882		TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr2:241570087C>T	ENST00000319838.5	+	6	1660	c.718C>T	c.(718-720)Cgc>Tgc	p.R240C	GPR35_ENST00000430267.1_Missense_Mutation_p.R240C|GPR35_ENST00000438013.2_Missense_Mutation_p.R271C|GPR35_ENST00000403859.1_Missense_Mutation_p.R240C|GPR35_ENST00000407714.1_Missense_Mutation_p.R240C	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	240					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)		GCTGACAGTGCGCCTCGCAGT	0.667																																																0													99	82	88					2																	241570087		2203	4300	6503	SO:0001583	missense	2859				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.718C>T	2.37:g.241570087C>T	ENSP00000322731:p.Arg240Cys		J3KR30|O43495|Q17R58|Q4VBN5|Q4ZFV2|Q6FHI8|Q86UH4	Missense_Mutation	SNP	ENST00000319838.5	37	CCDS2541.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.923480	0.52653	.	.	ENSG00000178623	ENST00000319838;ENST00000403859;ENST00000438013;ENST00000407714;ENST00000430267	T;T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7;-0.7	3.64	-0.654	0.11443	GPCR, rhodopsin-like superfamily (1);	1.214260	0.05886	U	0.627409	T	0.79155	0.4398	L	0.58810	1.83	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.68483	0.95;0.958;0.943	T	0.64952	-0.6286	10	0.56958	D	0.05	-3.0998	8.1112	0.30916	0.0:0.6526:0.0:0.3474	.	325;271;240	Q6ZMP9;A8K2J1;Q9HC97	.;.;GPR35_HUMAN	C	240;240;271;240;240	ENSP00000322731:R240C;ENSP00000385140:R240C;ENSP00000415890:R271C;ENSP00000384263:R240C;ENSP00000411788:R240C	ENSP00000322731:R240C	R	+	1	0	GPR35	241218760	0.000000	0.05858	0.000000	0.03702	0.098000	0.18820	-0.668000	0.05268	-0.235000	0.09767	0.305000	0.20034	CGC		0.667	GPR35-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325631.1	NM_001195382		T	241570087	C	T	241570087	3	4	754	1	0	0	0	0	1	0	0	0	6692	768	27	1	720	1	GPR35	2	241570087	Missense_Mutation	SNP	C	TCGA-KO-8414-01A-11D-2310-10	21152821	241570087	1629286	10	44393											
HRH1	3269	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	3	11301062	11301062	+	Silent	SNP	G	G	A	rs201790628	byFrequency	TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr3:11301062G>A	ENST00000397056.1	+	3	530	c.339G>A	c.(337-339)gcG>gcA	p.A113A	HRH1_ENST00000431010.2_Silent_p.A113A|HRH1_ENST00000438284.2_Silent_p.A113A	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	113					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)	p.A113A(1)		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)	CCAGCACAGCGTCCATTTTCA	0.542													G|||	6	0.00119808	0.0	0.0	5008	,	,		18426	0.0		0.0	False		,,,				2504	0.0061															1	Substitution - coding silent(1)	large_intestine(1)											215	208	210					3																	11301062		2203	4300	6503	SO:0001819	synonymous_variant	3269				CCDS2604.1	3p25	2012-11-12			ENSG00000196639	ENSG00000196639		"GPCR / Class A : Histamine receptors"	5182	protein-coding gene	gene with protein product		600167				8003029	Standard	NM_001098211		Approved		uc010hds.3	P35367	OTTHUMG00000129719	ENST00000397056.1:c.339G>A	3.37:g.11301062G>A			A8K047|Q6P9E5	Silent	SNP	ENST00000397056.1	37	CCDS2604.1																																																																																				0.542	HRH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251928.2			A	11301062	G	A	11301062	2	1	754	1	0	0	0	0	0	0	0	1	7357	1132	40	1		1	HRH1	3	11301062	Silent	SNP	G	TCGA-KO-8414-01A-11D-2310-10		11301062	186721368	11	44394											
ULK4	54986	ucsc.edu	37	3	41860994	41860994	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr3:41860994T>C	ENST00000301831.4	-	19	2231	c.1769A>G	c.(1768-1770)gAa>gGa	p.E590G		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	590					cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CTTTTTTTTTTCTTCCTAAAA	0.438																																																0													56	57	57					3																	41860994		1851	4087	5938	SO:0001583	missense	54986			AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"unc-51-like kinase 4 (C. elegans)"			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.1769A>G	3.37:g.41860994T>C	ENSP00000301831:p.Glu590Gly		A6NF15|Q8IW79|Q9NWV6|Q9UF96	Missense_Mutation	SNP	ENST00000301831.4	37	CCDS43071.1	.	.	.	.	.	.	.	.	.	.	T	15.18	2.755948	0.49362	.	.	ENSG00000168038	ENST00000301831	T	0.63913	-0.07	5.16	2.71	0.32032	Armadillo-like helical (1);Armadillo-type fold (2);	0.944419	0.08785	U	0.894149	T	0.67126	0.2860	L	0.43152	1.355	0.80722	D	1	D;D	0.63880	0.987;0.993	P;P	0.57776	0.827;0.827	T	0.55566	-0.8121	10	0.59425	D	0.04	.	8.1235	0.30984	0.2111:0.064:0.0:0.7249	.	590;590	B4E2M4;Q96C45	.;ULK4_HUMAN	G	590	ENSP00000301831:E590G	ENSP00000301831:E590G	E	-	2	0	ULK4	41835998	1.000000	0.71417	0.989000	0.46669	0.647000	0.38526	2.072000	0.41510	0.041000	0.15688	-2.530000	0.00182	GAA		0.438	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	XM_929989		C	41860994	T	C	41860994	3	2	754	1	0	0	0	0	1	0	0	0	16983	1783	62	3	2134	3	ULK4	3	41860994	Missense_Mutation	SNP	T	TCGA-KO-8414-01A-11D-2310-10	30559932	41860994	156161436	12	44395											
CELSR3	1951	broad.mit.edu	37	3	48697290	48697290	+	Silent	SNP	G	G	T			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr3:48697290G>T	ENST00000164024.4	-	1	3058	c.2778C>A	c.(2776-2778)acC>acA	p.T926T	CELSR3_ENST00000544264.1_Silent_p.T926T	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	926	Cadherin 6. {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)		CCAGGGTGTAGGTCACCTGGT	0.522																																																0													152	131	138					3																	48697290		2203	4300	6503	SO:0001819	synonymous_variant	1951			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3230	protein-coding gene	gene with protein product	"flamingo homolog 1 (Drosophila)"	604264	"cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.2778C>A	3.37:g.48697290G>T			O75092	Silent	SNP	ENST00000164024.4	37	CCDS2775.1																																																																																				0.522	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		T	48697290	G	T	48697290	2	4	754	1	0	0	0	0	0	0	0	1	3225	987	35	4		4	CELSR3	3	48697290	Silent	SNP	G	TCGA-KO-8414-01A-11D-2310-10	6836296	48697290	149325140	13	44396											
ZBBX	79740	broad.mit.edu	37	3	167039952	167039952	+	Silent	SNP	T	T	C			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr3:167039952T>C	ENST00000392766.2	-	12	1276	c.936A>G	c.(934-936)gaA>gaG	p.E312E	ZBBX_ENST00000455345.2_Silent_p.E312E|ZBBX_ENST00000392764.1_Silent_p.E283E|ZBBX_ENST00000392767.2_Silent_p.E312E|ZBBX_ENST00000307529.5_Silent_p.E312E|ZBBX_ENST00000469220.1_Intron	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	312						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						ATAGAATGTCTTCTTTAAGTT	0.279																																																0													67	64	65					3																	167039952		1789	4037	5826	SO:0001819	synonymous_variant	79740			AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.936A>G	3.37:g.167039952T>C			A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Silent	SNP	ENST00000392766.2	37	CCDS3199.2																																																																																				0.279	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		C	167039952	T	C	167039952	2	2	754	1	0	0	0	0	0	0	0	1	17521	1606	56	3		3	ZBBX	3	167039952	Silent	SNP	T	TCGA-KO-8414-01A-11D-2310-10	118342662	167039952	30982478	14	44397											
EVC2	132884	broad.mit.edu	37	4	5564754	5564754	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr4:5564754C>T	ENST00000344408.5	-	22	3801	c.3748G>A	c.(3748-3750)Ggc>Agc	p.G1250S	EVC2_ENST00000344938.1_Intron|EVC2_ENST00000310917.2_Missense_Mutation_p.G1170S	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	1250					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						GCCAGTTCGCCAATGGGCTCC	0.443																																																0													127	135	132					4																	5564754		2203	4300	6503	SO:0001583	missense	132884			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.3748G>A	4.37:g.5564754C>T	ENSP00000342144:p.Gly1250Ser		Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	ENST00000344408.5	37	CCDS3382.2	.	.	.	.	.	.	.	.	.	.	C	13.45	2.239915	0.39598	.	.	ENSG00000173040	ENST00000310917;ENST00000344408	T;T	0.74526	-0.85;-0.85	5.17	4.32	0.51571	.	1.259860	0.05622	N	0.580176	T	0.56804	0.2010	N	0.12746	0.255	0.23936	N	0.996416	B	0.28605	0.217	B	0.21151	0.033	T	0.42882	-0.9425	10	0.27785	T	0.31	-17.1361	8.6563	0.34066	0.0:0.898:0.0:0.102	.	1250	Q86UK5	LBN_HUMAN	S	1170;1250	ENSP00000311683:G1170S;ENSP00000342144:G1250S	ENSP00000311683:G1170S	G	-	1	0	EVC2	5615655	0.059000	0.20769	0.029000	0.17559	0.953000	0.61014	2.258000	0.43249	2.430000	0.82344	0.563000	0.77884	GGC		0.443	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127		T	5564754	C	T	5564754	3	4	754	1	0	0	0	0	1	0	0	0	5288	594	21	2	182	2	EVC2	4	5564754	Missense_Mutation	SNP	C	TCGA-KO-8414-01A-11D-2310-10		5564754	185589522	15	44398											
FBXL5	26234	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	4	15640143	15640143	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr4:15640143T>C	ENST00000341285.3	-	4	695	c.571A>G	c.(571-573)Aag>Gag	p.K191E	FBXL5_ENST00000382358.4_Missense_Mutation_p.K65E|FBXL5_ENST00000412094.2_Missense_Mutation_p.K174E	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	191					iron ion homeostasis (GO:0055072)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	iron ion binding (GO:0005506)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						TTATCTGACTTTTCATCCACG	0.353																																																0													57	55	56					4																	15640143		2203	4300	6503	SO:0001583	missense	26234			AF174591	CCDS3415.1, CCDS54745.1	4p15.33	2011-06-09			ENSG00000118564	ENSG00000118564		"F-boxes / Leucine-rich repeats"	13602	protein-coding gene	gene with protein product		605655				10531035	Standard	NM_012161		Approved	FBL4, FBL5, FLR1	uc003goc.2	Q9UKA1	OTTHUMG00000097097	ENST00000341285.3:c.571A>G	4.37:g.15640143T>C	ENSP00000344866:p.Lys191Glu		A8MSK4|B4DIB5|Q4W5A8|Q8NHP3|Q9NXN2|Q9P0I0|Q9P0X5|Q9UJT7|Q9UKC8	Missense_Mutation	SNP	ENST00000341285.3	37	CCDS3415.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.9|24.9	4.583921|4.583921	0.86748|0.86748	.|.	.|.	ENSG00000118564|ENSG00000118564	ENST00000341285;ENST00000412094;ENST00000382358;ENST00000512066|ENST00000513163	T;T;T|.	0.33654|.	1.45;1.46;1.4|.	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.57330|0.57330	0.2046|0.2046	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	D;D|.	0.71674|.	0.998;0.997|.	D;D|.	0.78314|.	0.991;0.98|.	T|T	0.53906|0.53906	-0.8372|-0.8372	10|6	0.46703|.	T|.	0.11|.	-22.038|-22.038	15.8847|15.8847	0.79238|0.79238	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	174;191|.	Q9UKA1-2;Q9UKA1|.	.;FBXL5_HUMAN|.	E|R	191;174;65;153|111	ENSP00000344866:K191E;ENSP00000408679:K174E;ENSP00000371795:K65E|.	ENSP00000344866:K191E|.	K|K	-|-	1|2	0|0	FBXL5|FBXL5	15249241|15249241	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.055000|6.055000	0.71103|0.71103	2.209000|2.209000	0.71365|0.71365	0.528000|0.528000	0.53228|0.53228	AAG|AAA		0.353	FBXL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214235.2			C	15640143	T	C	15640143	3	2	754	1	0	0	0	0	1	0	0	0	5724	1850	64	3	1536	3	FBXL5	4	15640143	Missense_Mutation	SNP	T	TCGA-KO-8414-01A-11D-2310-10	10075389	15640143	175514133	16	44399											
CDC25C	995	broad.mit.edu	37	5	137666827	137666827	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr5:137666827A>G	ENST00000323760.6	-	2	321	c.43T>C	c.(43-45)Tct>Cct	p.S15P	CDC25C_ENST00000514555.1_Missense_Mutation_p.S15P|CDC25C_ENST00000415130.2_Missense_Mutation_p.S15P|CDC25C_ENST00000357274.3_Missense_Mutation_p.S15P|CDC25C_ENST00000348983.3_Missense_Mutation_p.S15P|CDC25C_ENST00000513970.1_Missense_Mutation_p.S15P|CDC25C_ENST00000356505.3_Missense_Mutation_p.S15P	NM_001790.3	NP_001781.2	P30307	MPIP3_HUMAN	cell division cycle 25C	15					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|WW domain binding (GO:0050699)			endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCTGAGCCAGAGCTTCCTTCC	0.458																																																0													90	86	87					5																	137666827		2203	4300	6503	SO:0001583	missense	995			M34065	CCDS4202.1, CCDS4203.1	5q31	2013-01-17	2013-01-17		ENSG00000158402	ENSG00000158402		"Protein tyrosine phosphatases / Class III Cys-based PTPs", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1727	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 60"	157680	"cell division cycle 25C", "cell division cycle 25 homolog C (S. cerevisiae)", "cell division cycle 25 homolog C (S. pombe)"	CDC25		1703321	Standard	XM_005272145		Approved	PPP1R60	uc003lcp.1	P30307	OTTHUMG00000129203	ENST00000323760.6:c.43T>C	5.37:g.137666827A>G	ENSP00000321656:p.Ser15Pro		D3DQB8|Q96PL3|Q9H168|Q9H2E8|Q9H2E9|Q9H2F1	Missense_Mutation	SNP	ENST00000323760.6	37	CCDS4202.1	.	.	.	.	.	.	.	.	.	.	A	8.444	0.851558	0.17034	.	.	ENSG00000158402	ENST00000323760;ENST00000356505;ENST00000357274;ENST00000348983;ENST00000415130;ENST00000513970;ENST00000534892;ENST00000514555;ENST00000503022;ENST00000510119	T;T;T;T;T;T;T;T;T	0.23754	2.51;2.52;1.95;1.95;1.95;2.51;2.52;1.9;1.89	4.14	-0.563	0.11778	.	1.422790	0.04401	N	0.364291	T	0.07908	0.0198	N	0.01003	-1.06	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;0.001;0.0;0.001;0.0;0.0	T	0.18777	-1.0326	10	0.39692	T	0.17	12.7295	1.0632	0.01605	0.2141:0.4083:0.1758:0.2018	.	32;15;32;15;15;15	G3V1P6;P30307-3;B4DX61;P30307-2;P30307-4;P30307	.;.;.;.;.;MPIP3_HUMAN	P	15;15;15;15;15;15;32;15;15;32	ENSP00000321656:S15P;ENSP00000348898:S15P;ENSP00000349821:S15P;ENSP00000345205:S15P;ENSP00000392631:S15P;ENSP00000424795:S15P;ENSP00000425470:S15P;ENSP00000427251:S15P;ENSP00000427105:S32P	ENSP00000321656:S15P	S	-	1	0	CDC25C	137694726	0.000000	0.05858	0.000000	0.03702	0.673000	0.39480	-0.013000	0.12678	-0.090000	0.12462	0.533000	0.62120	TCT		0.458	CDC25C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251280.1			G	137666827	A	G	137666827	3	3	754	1	0	0	0	0	1	0	0	0	3066	304	11	3	1430	3	CDC25C	5	137666827	Missense_Mutation	SNP	A	TCGA-KO-8414-01A-11D-2310-10		137666827	43248433	17	44400											
TREML2	79865	mdanderson.org	37	6	41166017	41166017	+	Missense_Mutation	SNP	C	C	T	rs77093113	byFrequency	TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr6:41166017C>T	ENST00000483722.1	-	2	391	c.206G>A	c.(205-207)cGa>cAa	p.R69Q		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	69	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)					CACCCAGACTCGGGCAAAGCC	0.572																																																0													126	124	125					6																	41166017		2203	4300	6503	SO:0001583	missense	79865			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.206G>A	6.37:g.41166017C>T	ENSP00000418767:p.Arg69Gln		Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	Missense_Mutation	SNP	ENST00000483722.1	37	CCDS4853.2	.	.	.	.	.	.	.	.	.	.	.	15.90	2.968589	0.53614	.	.	ENSG00000112195	ENST00000483722	T	0.64991	-0.13	4.75	4.75	0.60458	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.129603	0.32563	N	0.005924	T	0.66567	0.2802	L	0.60455	1.87	0.26861	N	0.967955	D	0.89917	1.0	D	0.91635	0.999	T	0.60352	-0.7280	10	0.48119	T	0.1	-23.6018	13.6225	0.62144	0.0:1.0:0.0:0.0	.	69	Q5T2D2	TRML2_HUMAN	Q	69	ENSP00000418767:R69Q	ENSP00000418767:R69Q	R	-	2	0	TREML2	41273995	0.203000	0.23435	0.325000	0.25375	0.013000	0.08279	3.388000	0.52509	2.344000	0.79699	0.563000	0.77884	CGA		0.572	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043756.3	NM_024807		T	41166017	C	T	41166017	3	4	754	1	0	0	0	0	1	0	0	0	16478	884	31	1	775	1	TREML2	6	41166017	Missense_Mutation	SNP	C	TCGA-KO-8414-01A-11D-2310-10		41166017	129949050	18	44401	460	2									
TREML2	79865	mdanderson.org	37	6	41166021	41166021	+	Missense_Mutation	SNP	C	C	T	rs386700523|rs61736679	byFrequency	TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr6:41166021C>T	ENST00000483722.1	-	2	387	c.202G>A	c.(202-204)Gcc>Acc	p.A68T		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	68	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)					CAGACTCGGGCAAAGCCAGGC	0.572																																																0													133	131	132					6																	41166021		2203	4300	6503	SO:0001583	missense	79865			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.202G>A	6.37:g.41166021C>T	ENSP00000418767:p.Ala68Thr		Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	Missense_Mutation	SNP	ENST00000483722.1	37	CCDS4853.2	.	.	.	.	.	.	.	.	.	.	.	0.011	-1.711493	0.00712	.	.	ENSG00000112195	ENST00000483722	T	0.67865	-0.29	4.75	0.472	0.16758	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.870478	0.09855	N	0.747087	T	0.06508	0.0167	N	0.00263	-1.745	0.21256	N	0.999743	B	0.10296	0.003	B	0.04013	0.001	T	0.39121	-0.9629	10	0.02654	T	1	-2.4265	5.3045	0.15795	0.0:0.0954:0.3459:0.5587	.	68	Q5T2D2	TRML2_HUMAN	T	68	ENSP00000418767:A68T	ENSP00000418767:A68T	A	-	1	0	TREML2	41273999	0.082000	0.21442	0.327000	0.25402	0.012000	0.07955	-0.620000	0.05565	-0.041000	0.13558	-0.440000	0.05779	GCC		0.572	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043756.3	NM_024807		T	41166021	C	T	41166021	3	4	754	1	0	0	0	0	1	0	0	0	16478	710	25	2	779	2	TREML2	6	41166021	Missense_Mutation	SNP	C	TCGA-KO-8414-01A-11D-2310-10	4	41166021	129949046	19	44402	460	2									
DST	667	broad.mit.edu;bcgsc.ca	37	6	56417323	56417323	+	Nonsense_Mutation	SNP	C	C	A			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr6:56417323C>A	ENST00000361203.3	-	57	15641	c.15634G>T	c.(15634-15636)Gaa>Taa	p.E5212*	DST_ENST00000421834.2_Nonsense_Mutation_p.E3126*|DST_ENST00000370788.2_Nonsense_Mutation_p.E3126*|DST_ENST00000370754.5_Nonsense_Mutation_p.E5392*|DST_ENST00000370769.4_Nonsense_Mutation_p.E5214*|DST_ENST00000244364.6_Nonsense_Mutation_p.E2800*|DST_ENST00000312431.6_3'UTR|DST_ENST00000446842.2_Nonsense_Mutation_p.E4888*			Q03001	DYST_HUMAN	dystonin	5212					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)			TTTATAGTTTCCTTTTGCTTT	0.413																																																0													56	53	54					6																	56417323		1865	4086	5951	SO:0001587	stop_gained	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.15634G>T	6.37:g.56417323C>A	ENSP00000354508:p.Glu5212*		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Nonsense_Mutation	SNP	ENST00000361203.3	37		.	.	.	.	.	.	.	.	.	.	C	55	24.898192	0.99962	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	.	.	.	6.17	4.1	0.47936	.	0.483231	0.18277	N	0.146130	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	8.1406	0.31080	0.0:0.6774:0.1268:0.1958	.	.	.	.	X	2800;5392;5214;3126;4888;3126;5212	.	ENSP00000244364:E2800X	E	-	1	0	DST	56525282	1.000000	0.71417	0.958000	0.39756	0.987000	0.75469	2.104000	0.41815	1.625000	0.50366	0.655000	0.94253	GAA		0.413	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		A	56417323	C	A	56417323	4	1	754	1	0	0	0	0	0	1	0	0	4785	864	30	4	7289	4	DST	6	56417323	Nonsense_Mutation	SNP	C	TCGA-KO-8414-01A-11D-2310-10	15251302	56417323	114697744	20	44403											
GGCT	79017	hgsc.bcm.edu	37	7	30544237	30544238	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr7:30544237_30544238delCT	ENST00000275428.4	-	1	222_223	c.88_89delAG	c.(88-90)aggfs	p.R30fs	GGCT_ENST00000005374.6_Frame_Shift_Del_p.R30fs|GGCT_ENST00000409390.1_Frame_Shift_Del_p.R30fs|GGCT_ENST00000598361.1_Intron|GGCT_ENST00000409436.1_Frame_Shift_Del_p.R30fs|GGCT_ENST00000409144.1_Frame_Shift_Del_p.R30fs	NM_024051.3	NP_076956.1	O75223	GGCT_HUMAN	gamma-glutamylcyclotransferase	30					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)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8						GAGGTGGATCCTCTCTGTCAGC	0.644																																																0																																										SO:0001589	frameshift_variant	79017			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.88_89delAG	7.37:g.30544241_30544242delCT	ENSP00000275428:p.Arg30fs		B2RDN0|B8ZZN4|B8ZZR8|Q9BS37	Frame_Shift_Del	DEL	ENST00000275428.4	37	CCDS5428.1																																																																																				0.644	GGCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250447.2	NM_024051		-	30544238	CT	-	30544237	7	5	754	1	0	1	0	1	0	0	0	0	6357	681	24	0	493	0	GGCT	7	30544237	Frame_Shift_Del	DEL	CT	TCGA-KO-8414-01A-11D-2310-10		30544237	128594426	21	44404	461	2									
GGCT	79017	bcgsc.ca	37	7	30544238	30544239	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr7:30544238_30544239delCT	ENST00000275428.4	-	1	221_222	c.87_88delAG	c.(85-90)gaagggfs	p.G30fs	GGCT_ENST00000005374.6_Frame_Shift_Del_p.G30fs|GGCT_ENST00000409390.1_Frame_Shift_Del_p.G30fs|GGCT_ENST00000598361.1_Intron|GGCT_ENST00000409436.1_Frame_Shift_Del_p.G30fs|GGCT_ENST00000409144.1_Frame_Shift_Del_p.G30fs	NM_024051.3	NP_076956.1	O75223	GGCT_HUMAN	gamma-glutamylcyclotransferase	30					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)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8						AGGTGGATCCTCTCTGTCAGCA	0.649																																																0																																										SO:0001589	frameshift_variant	79017			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.87_88delAG	7.37:g.30544238_30544239delCT	ENSP00000275428:p.Gly30fs		B2RDN0|B8ZZN4|B8ZZR8|Q9BS37	Frame_Shift_Del	DEL	ENST00000275428.4	37	CCDS5428.1																																																																																				0.649	GGCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250447.2	NM_024051		-	30544239	CT	-	30544238	7	5	754	1	0	1	0	1	0	0	0	0	6357	1550	54	0	494	0	GGCT	7	30544238	Frame_Shift_Del	DEL	CT	TCGA-KO-8414-01A-11D-2310-10	1	30544238	128594425	22	44405	461	2									
BAZ1B	9031	broad.mit.edu	37	7	72863961	72863961	+	Silent	SNP	A	A	G			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr7:72863961A>G	ENST00000339594.4	-	15	3977	c.3639T>C	c.(3637-3639)tgT>tgC	p.C1213C	BAZ1B_ENST00000404251.1_Silent_p.C1213C	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1213					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)				CCGGCCTCAGACAAAACAGGT	0.517																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)											0													92	85	87					7																	72863961		2203	4300	6503	SO:0001819	synonymous_variant	9031			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.3639T>C	7.37:g.72863961A>G			B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Silent	SNP	ENST00000339594.4	37	CCDS5549.1																																																																																				0.517	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408		G	72863961	A	G	72863961	2	3	754	1	0	0	0	0	0	0	0	1	1330	273	10	3		3	BAZ1B	7	72863961	Silent	SNP	A	TCGA-KO-8414-01A-11D-2310-10	42319723	72863961	86274702	23	44406											
GNAI1	2770	bcgsc.ca	37	7	79818278	79818284	+	Frame_Shift_Del	DEL	ATCTGGT	ATCTGGT	-	rs147937975		TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	ATCTGGT	ATCTGGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr7:79818278_79818284delATCTGGT	ENST00000351004.3	+	2	503_509	c.130_136delATCTGGT	c.(130-138)atctggtaafs	p.IW*44fs	GNAI1_ENST00000457358.2_5'UTR|GNAI1_ENST00000490206.1_3'UTR	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1	44					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						TGCTGGTGAATCTGGTAAAAGTACAAT	0.314																																																0																																										SO:0001589	frameshift_variant	2770			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.130_136delATCTGGT	7.37:g.79818278_79818284delATCTGGT	ENSP00000343027:p.Ile44fs		A8KA88|B4E2V1|C9J3A4|P04898|P11015|P31871|Q5U074|Q8TAN5|Q9UGA4	Frame_Shift_Del	DEL	ENST00000351004.3	37	CCDS5595.1																																																																																				0.314	GNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253254.1	NM_002069		-	79818284	ATCTGGT	-	79818278	7	5	754	1	0	1	0	1	0	0	0	0	6506	1435	50	0	136	0	GNAI1	7	79818278	Frame_Shift_Del	DEL	ATCTGGT	TCGA-KO-8414-01A-11D-2310-10	6954317	79818278	79320385	24	44407											
GRM3	2913	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	7	86479693	86479693	+	Missense_Mutation	SNP	C	C	T	rs376384427		TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr7:86479693C>T	ENST00000361669.2	+	5	3498	c.2399C>T	c.(2398-2400)aCg>aTg	p.T800M	GRM3_ENST00000546348.1_Missense_Mutation_p.T392M|GRM3_ENST00000439827.1_Silent_p.D444D|GRM3_ENST00000536043.1_Missense_Mutation_p.T672M|GRM3_ENST00000394720.2_Silent_p.D442D	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	800					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)					TAGGTGCAGACGACAACCATG	0.453													C|||	1	0.000199681	0.0	0.0	5008	,	,		21863	0.0		0.0	False		,,,				2504	0.001				GBM(52;969 1098 3139 52280)											0								C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	218	150	173		2399	6	1	7		173	0,8600		0,0,4300	no	missense	GRM3	NM_000840.2	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	800/880	86479693	1,13005	2203	4300	6503	SO:0001583	missense	2913				CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.2399C>T	7.37:g.86479693C>T	ENSP00000355316:p.Thr800Met		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.545246	0.86022	2.27E-4	0.0	ENSG00000198822	ENST00000361669;ENST00000546348;ENST00000536043	D;D;D	0.88818	-2.43;-2.43;-2.43	5.97	5.97	0.96955	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.93449	0.7910	L	0.53617	1.68	0.80722	D	1	D;D;D	0.89917	0.996;1.0;1.0	P;D;D	0.97110	0.861;1.0;0.999	D	0.93124	0.6527	10	0.62326	D	0.03	.	19.4162	0.94700	0.0:1.0:0.0:0.0	.	392;672;800	B7Z204;F5GYZ2;Q14832	.;.;GRM3_HUMAN	M	800;392;672	ENSP00000355316:T800M;ENSP00000444064:T392M;ENSP00000441407:T672M	ENSP00000355316:T800M	T	+	2	0	GRM3	86317629	1.000000	0.71417	0.972000	0.41901	0.785000	0.44390	6.077000	0.71275	2.837000	0.97791	0.655000	0.94253	ACG		0.453	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			T	86479693	C	T	86479693	3	4	754	1	0	0	0	0	1	0	0	0	6800	536	19	1	2413	1	GRM3	7	86479693	Missense_Mutation	SNP	C	TCGA-KO-8414-01A-11D-2310-10	6661415	86479693	72658970	25	44408											
PTPRN2	5799	broad.mit.edu;bcgsc.ca	37	7	157449123	157449123	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr7:157449123G>A	ENST00000389418.4	-	14	2131	c.2122C>T	c.(2122-2124)Cgc>Tgc	p.R708C	PTPRN2_ENST00000389416.4_Missense_Mutation_p.R691C|PTPRN2_ENST00000409483.1_Missense_Mutation_p.R670C|PTPRN2_ENST00000389413.3_Missense_Mutation_p.R679C|PTPRN2_ENST00000404321.2_Missense_Mutation_p.R731C	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	708					negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GCGCTGCTGCGTGCGGAGGGG	0.662																																																0													73	60	65					7																	157449123		2174	4259	6433	SO:0001583	missense	5799			AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9677	protein-coding gene	gene with protein product	"IAR PTPRP"	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.2122C>T	7.37:g.157449123G>A	ENSP00000374069:p.Arg708Cys		E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Missense_Mutation	SNP	ENST00000389418.4	37	CCDS5947.1	.	.	.	.	.	.	.	.	.	.	g	15.09	2.731049	0.48939	.	.	ENSG00000155093	ENST00000409483;ENST00000389413;ENST00000389416;ENST00000389418;ENST00000404321	T;T;T;T;T	0.03524	3.92;3.95;3.91;3.91;3.9	4.19	3.29	0.37713	.	0.000000	0.64402	U	0.000017	T	0.16685	0.0401	M	0.74881	2.28	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	0.996;0.987;0.996;0.997;0.99	T	0.00494	-1.1706	10	0.87932	D	0	.	13.598	0.62002	0.0:0.0:0.8433:0.1567	.	731;670;679;691;708	Q92932-3;E7EM83;Q92932-2;E9PC57;Q92932	.;.;.;.;PTPR2_HUMAN	C	670;679;691;708;731	ENSP00000387114:R670C;ENSP00000374064:R679C;ENSP00000374067:R691C;ENSP00000374069:R708C;ENSP00000385464:R731C	ENSP00000374064:R679C	R	-	1	0	PTPRN2	157141884	1.000000	0.71417	0.328000	0.25416	0.041000	0.13682	5.015000	0.64035	0.857000	0.35407	0.444000	0.29173	CGC		0.662	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1			A	157449123	G	A	157449123	3	1	754	1	0	0	0	0	1	0	0	0	12814	1145	40	1	965	1	PTPRN2	7	157449123	Missense_Mutation	SNP	G	TCGA-KO-8414-01A-11D-2310-10	70969430	157449123	1689540	26	44409											
TRAPPC9	83696	broad.mit.edu	37	8	141321473	141321473	+	Splice_Site	SNP	T	T	C			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr8:141321473T>C	ENST00000438773.2	-	10	1629	c.1496A>G	c.(1495-1497)gAa>gGa	p.E499G	TRAPPC9_ENST00000389327.3_Splice_Site_p.E490G|TRAPPC9_ENST00000389328.4_Splice_Site_p.E597G	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	499					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						ATCTTTCTTTTCTGAAGAGAA	0.493																																																0													82	82	82					8																	141321473		2203	4300	6503	SO:0001630	splice_region_variant	83696			BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"Trafficking protein particle complex"	30832	protein-coding gene	gene with protein product	"TRAPP 120 kDa subunit", "tularik gene 1"	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.1496-1A>G	8.37:g.141321473T>C			Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Missense_Mutation	SNP	ENST00000438773.2	37	CCDS55278.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.317407	0.81469	.	.	ENSG00000167632	ENST00000389328;ENST00000389327;ENST00000438773	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.78123	0.4234	M	0.73217	2.22	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.995;0.998	T	0.79393	-0.1822	9	0.52906	T	0.07	.	15.6142	0.76753	0.0:0.0:0.0:1.0	.	499;490;597	Q96Q05;Q96Q05-3;Q96Q05-2	TPPC9_HUMAN;.;.	G	597;490;499	.	ENSP00000373978:E490G	E	-	2	0	TRAPPC9	141390655	1.000000	0.71417	0.998000	0.56505	0.793000	0.44817	6.822000	0.75277	2.230000	0.72887	0.454000	0.30748	GAA		0.493	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	NM_031466	Missense_Mutation	C	141321473	T	C	141321473	5	2	754	1	0	0	0	0	0	0	1	0	16470	1797	62	3	2006	3	TRAPPC9	8	141321473	Splice_Site	SNP	T	TCGA-KO-8414-01A-11D-2310-10		141321473	5042549	27	44410											
ADAMTS14	140766	broad.mit.edu	37	10	72496471	72496471	+	Silent	SNP	C	C	T			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr10:72496471C>T	ENST00000373207.1	+	10	1521	c.1521C>T	c.(1519-1521)tgC>tgT	p.C507C	ADAMTS14_ENST00000373208.1_Silent_p.C510C	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	507	Disintegrin.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						AGCTGTGGTGCAGCCATCCTG	0.587																																																0													98	85	89					10																	72496471		2203	4300	6503	SO:0001819	synonymous_variant	140766			AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"ADAM metallopeptidases with thrombospondin type 1 motif"	14899	protein-coding gene	gene with protein product		607506	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.1521C>T	10.37:g.72496471C>T			Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Silent	SNP	ENST00000373207.1	37	CCDS7306.1																																																																																				0.587	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722		T	72496471	C	T	72496471	2	4	754	1	0	0	0	0	0	0	0	1	259	718	25	2		2	ADAMTS14	10	72496471	Silent	SNP	C	TCGA-KO-8414-01A-11D-2310-10		72496471	63038276	28	44411											
KNDC1	85442	mdanderson.org	37	10	135000148	135000148	+	Silent	SNP	T	T	C	rs3810965	byFrequency	TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr10:135000148T>C	ENST00000304613.3	+	6	1317	c.1296T>C	c.(1294-1296)gcT>gcC	p.A432A	KNDC1_ENST00000368572.2_Silent_p.A432A|KNDC1_ENST00000368571.2_Silent_p.A367A			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	432					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)		CAGAAGGAGCTAGGCAGCTGG	0.667													c|||	2087	0.416733	0.118	0.3847	5008	,	,		13870	0.5764		0.4354	False		,,,				2504	0.6595															0										719,3683		63,593,1545	26	32	30		1296	-4.2	0	10	dbSNP_107	30	3956,4636		925,2106,1265	no	coding-synonymous	KNDC1	NM_152643.6		988,2699,2810	CC,CT,TT		46.0428,16.3335,35.9781		432/1750	135000148	4675,8319	2201	4296	6497	SO:0001819	synonymous_variant	85442			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.1296T>C	10.37:g.135000148T>C			B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Silent	SNP	ENST00000304613.3	37	CCDS7674.1																																																																																				0.667	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		C	135000148	T	C	135000148	2	2	754	1	0	0	0	0	0	0	0	1	8428	1509	53	3		3	KNDC1	10	135000148	Silent	SNP	T	TCGA-KO-8414-01A-11D-2310-10	62503677	135000148	534599	29	44412			1	120		2	2	12	N	T_A	1.883255e-05
KNDC1	85442	mdanderson.org	37	10	135000159	135000159	+	Missense_Mutation	SNP	A	A	G	rs3810964	byFrequency	TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr10:135000159A>G	ENST00000304613.3	+	6	1328	c.1307A>G	c.(1306-1308)gAa>gGa	p.E436G	KNDC1_ENST00000368572.2_Missense_Mutation_p.E436G|KNDC1_ENST00000368571.2_Missense_Mutation_p.E371G			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	436			E -> G (in dbSNP:rs3810964). {ECO:0000269|Ref.1}.		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)		AGGCAGCTGGAAAGTGCAGCC	0.652													a|||	2088	0.416933	0.118	0.3847	5008	,	,		14228	0.5774		0.4354	False		,,,				2504	0.6595															0									GLY/GLU	699,3701		65,569,1566	23	28	26		1307	-5.9	0	10	dbSNP_107	26	3934,4658		927,2080,1289	yes	missense	KNDC1	NM_152643.6	98	992,2649,2855	GG,GA,AA		45.7868,15.8864,35.6604	benign	436/1750	135000159	4633,8359	2200	4296	6496	SO:0001583	missense	85442			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.1307A>G	10.37:g.135000159A>G	ENSP00000304437:p.Glu436Gly		B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	CCDS7674.1	871	0.39880952380952384	52	0.10569105691056911	135	0.3729281767955801	338	0.5909090909090909	346	0.45646437994722955	A	6.455	0.452036	0.12283	0.158864	0.457868	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.28895	1.59;1.59;1.59	3.02	-5.95	0.02241	.	0.946911	0.08625	N	0.917834	T	0.00012	0.0000	N	0.00538	-1.39	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43893	-0.9363	9	0.09843	T	0.71	-2.0863	2.4481	0.04511	0.2095:0.4457:0.2064:0.1384	rs3810964;rs58651584;rs3810964	371;436	Q76NI1-2;Q76NI1	.;VKIND_HUMAN	G	436;436;371	ENSP00000304437:E436G;ENSP00000357561:E436G;ENSP00000357560:E371G	ENSP00000304437:E436G	E	+	2	0	KNDC1	134850149	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.407000	0.07178	-1.198000	0.02669	-1.676000	0.00740	GAA		0.652	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		G	135000159	A	G	135000159	3	3	754	1	0	0	0	0	1	0	0	0	8428	246	9	3	1329	3	KNDC1	10	135000159	Missense_Mutation	SNP	A	TCGA-KO-8414-01A-11D-2310-10	11	135000159	534588	30	44413			1	120		2	2	12	N	T_A	1.883255e-05
MUC6	4588	mdanderson.org	37	11	1016628	1016628	+	Missense_Mutation	SNP	G	G	A	rs202039948		TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr11:1016628G>A	ENST00000421673.2	-	31	6223	c.6173C>T	c.(6172-6174)aCc>aTc	p.T2058I		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2058	Thr-rich.				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)		GGCTGTGTGGGTGGACCCTGT	0.567																																																0													381	380	380					11																	1016628		2193	4287	6480	SO:0001583	missense	4588			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.6173C>T	11.37:g.1016628G>A	ENSP00000406861:p.Thr2058Ile		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.507954	0.44558	.	.	ENSG00000184956	ENST00000421673	T	0.19250	2.16	2.46	2.46	0.29980	.	.	.	.	.	T	0.20941	0.0504	L	0.50333	1.59	0.09310	N	1	D	0.56968	0.978	B	0.42738	0.396	T	0.10706	-1.0618	9	0.45353	T	0.12	.	11.0274	0.47753	0.0:0.0:1.0:0.0	.	2058	Q6W4X9	MUC6_HUMAN	I	2058	ENSP00000406861:T2058I	ENSP00000406861:T2058I	T	-	2	0	MUC6	1006628	0.007000	0.16637	0.002000	0.10522	0.226000	0.24999	1.358000	0.34102	1.716000	0.51395	0.313000	0.20887	ACC		0.567	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		A	1016628	G	A	1016628	3	1	754	1	0	0	0	0	1	0	0	0	9982	1261	44	2	1158	2	MUC6	11	1016628	Missense_Mutation	SNP	G	TCGA-KO-8414-01A-11D-2310-10		1016628	133989888	31	44414			2	121		2	2	35	G		5.820856e-05
MUC6	4588	mdanderson.org	37	11	1016662	1016662	+	Missense_Mutation	SNP	G	G	A	rs201489806		TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr11:1016662G>A	ENST00000421673.2	-	31	6189	c.6139C>T	c.(6139-6141)Cct>Tct	p.P2047S		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2047	Thr-rich.				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)		GTTGGTGGAGGAACGGTGCCT	0.572																																																0													524	490	502					11																	1016662		2200	4295	6495	SO:0001583	missense	4588			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.6139C>T	11.37:g.1016662G>A	ENSP00000406861:p.Pro2047Ser		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	6.404	0.442648	0.12164	.	.	ENSG00000184956	ENST00000421673	T	0.18810	2.19	3.12	-2.06	0.07298	.	.	.	.	.	T	0.10809	0.0264	L	0.33485	1.01	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.40553	-0.9557	9	0.11485	T	0.65	.	2.5371	0.04716	0.2087:0.142:0.5053:0.144	.	2047	Q6W4X9	MUC6_HUMAN	S	2047	ENSP00000406861:P2047S	ENSP00000406861:P2047S	P	-	1	0	MUC6	1006662	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.038000	0.13862	-1.027000	0.03325	-1.786000	0.00637	CCT		0.572	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		A	1016662	G	A	1016662	3	1	754	1	0	0	0	0	1	0	0	0	9982	1174	41	2	1192	2	MUC6	11	1016662	Missense_Mutation	SNP	G	TCGA-KO-8414-01A-11D-2310-10	34	1016662	133989854	32	44415			2	121		2	2	35	G		5.820856e-05
MUC2	4583	broad.mit.edu	37	11	1092624	1092624	+	Silent	SNP	C	C	A			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr11:1092624C>A	ENST00000441003.2	+	30	4470	c.4443C>A	c.(4441-4443)acC>acA	p.T1481T	MUC2_ENST00000359061.5_Silent_p.T1482T|MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000361558.6_Intron	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4216	Approximate repeats.				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)	gccctccaaccaccactccca	0.627																																																0													223	336	297					11																	1092624		1558	2939	4497	SO:0001819	synonymous_variant	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.4443C>A	11.37:g.1092624C>A			Q14878	Silent	SNP	ENST00000441003.2	37																																																																																					0.627	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		A	1092624	C	A	1092624	2	1	754	1	0	0	0	0	0	0	0	1	9977	581	21	4		4	MUC2	11	1092624	Silent	SNP	C	TCGA-KO-8414-01A-11D-2310-10	75962	1092624	133913892	33	44416											
GYLTL1B	120071	broad.mit.edu	37	11	45945039	45945039	+	Missense_Mutation	SNP	A	A	G	rs200481274	byFrequency	TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr11:45945039A>G	ENST00000531526.1	+	3	412	c.301A>G	c.(301-303)Atc>Gtc	p.I101V	GYLTL1B_ENST00000401752.1_Missense_Mutation_p.I101V|GYLTL1B_ENST00000529052.1_Missense_Mutation_p.I70V|GYLTL1B_ENST00000536139.1_Missense_Mutation_p.I70V|GYLTL1B_ENST00000389968.3_5'UTR|GYLTL1B_ENST00000325468.5_Missense_Mutation_p.I101V	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	101					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)		GCATGTGGCCATCGTGTGTGC	0.642													A|||	3	0.000599042	0.0023	0.0	5008	,	,		14666	0.0		0.0	False		,,,				2504	0.0															0													125	101	109					11																	45945039		2203	4299	6502	SO:0001583	missense	120071				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.301A>G	11.37:g.45945039A>G	ENSP00000432869:p.Ile101Val		A6NN75|Q8N8Y6|Q8NAK3|Q8WY62	Missense_Mutation	SNP	ENST00000531526.1	37	CCDS31473.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	12.92	2.082391	0.36758	.	.	ENSG00000165905	ENST00000529052;ENST00000531526;ENST00000401752;ENST00000325468;ENST00000536139	T;T;T;T;T	0.39592	1.07;1.09;1.09;1.09;1.07	5.41	1.6	0.23607	.	0.529195	0.20424	N	0.092620	T	0.25791	0.0628	L	0.31926	0.97	0.80722	D	1	B;B	0.17667	0.023;0.005	B;B	0.22880	0.042;0.02	T	0.05099	-1.0906	10	0.12766	T	0.61	-13.0566	6.0892	0.19985	0.6788:0.0:0.0699:0.2513	.	70;101	E9PIZ2;Q8N3Y3	.;LARG2_HUMAN	V	70;101;101;101;70	ENSP00000431932:I70V;ENSP00000432869:I101V;ENSP00000385235:I101V;ENSP00000324570:I101V;ENSP00000445044:I70V	ENSP00000324570:I101V	I	+	1	0	GYLTL1B	45901615	0.066000	0.20996	1.000000	0.80357	0.664000	0.39144	1.170000	0.31883	0.345000	0.23873	-0.333000	0.08304	ATC		0.642	GYLTL1B-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392572.1	NM_152312		G	45945039	A	G	45945039	3	3	754	1	0	0	0	0	1	0	0	0	6909	217	8	3	307	3	GYLTL1B	11	45945039	Missense_Mutation	SNP	A	TCGA-KO-8414-01A-11D-2310-10	44852415	45945039	89061477	34	44417											
RCOR2	283248	mdanderson.org	37	11	63679369	63679369	+	Missense_Mutation	SNP	T	T	C	rs320108	byFrequency	TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr11:63679369T>C	ENST00000301459.4	-	12	1927	c.1540A>G	c.(1540-1542)Acc>Gcc	p.T514A	RCOR2_ENST00000473926.2_5'Flank	NM_173587.3	NP_775858.2	Q8IZ40	RCOR2_HUMAN	REST corepressor 2	514	Pro-rich.		T -> A (in dbSNP:rs320108). {ECO:0000269|PubMed:15489334}.		negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						TCCAGAGGGGTTCCAATCAGG	0.716													C|||	4739	0.946286	0.8064	0.9813	5008	,	,		6119	1.0		1.0	False		,,,				2504	1.0															0													1	1	1					11																	63679369		870	1975	2845	SO:0001583	missense	283248			BC010608	CCDS8052.1	11q13.1	2008-02-05			ENSG00000167771	ENSG00000167771			27455	protein-coding gene	gene with protein product						12477932	Standard	NM_173587		Approved		uc001nyc.3	Q8IZ40	OTTHUMG00000150472	ENST00000301459.4:c.1540A>G	11.37:g.63679369T>C	ENSP00000301459:p.Thr514Ala		Q96FP3	Missense_Mutation	SNP	ENST00000301459.4	37	CCDS8052.1	2093	0.9583333333333334	408	0.8292682926829268	355	0.9806629834254144	572	1.0	758	1.0	C	5.421	0.262822	0.10294	.	.	ENSG00000167771	ENST00000301459	T	0.28454	1.61	4.42	4.42	0.53409	.	0.312825	0.30752	N	0.008943	T	0.00012	0.0000	N	0.02011	-0.69	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.42361	-0.9456	9	0.02654	T	1	.	7.9221	0.29852	0.0:0.7501:0.1613:0.0885	rs320108;rs17855501;rs61010286	514	Q8IZ40	RCOR2_HUMAN	A	514	ENSP00000301459:T514A	ENSP00000301459:T514A	T	-	1	0	RCOR2	63435945	0.021000	0.18746	1.000000	0.80357	0.993000	0.82548	0.269000	0.18589	1.258000	0.44101	-0.222000	0.12452	ACC		0.716	RCOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318233.1	NM_173587		C	63679369	T	C	63679369	3	2	754	1	0	0	0	0	1	0	0	0	13189	1725	60	3	35	3	RCOR2	11	63679369	Missense_Mutation	SNP	T	TCGA-KO-8414-01A-11D-2310-10	17734330	63679369	71327147	35	44418											
RCOR2	283248	broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	63681937	63681937	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr11:63681937A>G	ENST00000301459.4	-	6	944	c.557T>C	c.(556-558)aTg>aCg	p.M186T	RCOR2_ENST00000473926.2_5'Flank	NM_173587.3	NP_775858.2	Q8IZ40	RCOR2_HUMAN	REST corepressor 2	186					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						CTGTCTGTCCATCACACTAGT	0.602																																																0													60	72	68					11																	63681937		2200	4297	6497	SO:0001583	missense	283248			BC010608	CCDS8052.1	11q13.1	2008-02-05			ENSG00000167771	ENSG00000167771			27455	protein-coding gene	gene with protein product						12477932	Standard	NM_173587		Approved		uc001nyc.3	Q8IZ40	OTTHUMG00000150472	ENST00000301459.4:c.557T>C	11.37:g.63681937A>G	ENSP00000301459:p.Met186Thr		Q96FP3	Missense_Mutation	SNP	ENST00000301459.4	37	CCDS8052.1	.	.	.	.	.	.	.	.	.	.	A	18.99	3.740239	0.69304	.	.	ENSG00000167771	ENST00000301459	T	0.28895	1.59	4.37	4.37	0.52481	.	0.046931	0.85682	D	0.000000	T	0.54029	0.1833	M	0.84082	2.675	0.80722	D	1	D	0.54601	0.967	P	0.60789	0.879	T	0.61860	-0.6976	10	0.72032	D	0.01	.	12.8973	0.58106	1.0:0.0:0.0:0.0	.	186	Q8IZ40	RCOR2_HUMAN	T	186	ENSP00000301459:M186T	ENSP00000301459:M186T	M	-	2	0	RCOR2	63438513	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.404000	0.79996	1.749000	0.51849	0.459000	0.35465	ATG		0.602	RCOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318233.1	NM_173587		G	63681937	A	G	63681937	3	3	754	1	0	0	0	0	1	0	0	0	13189	217	8	3	1042	3	RCOR2	11	63681937	Missense_Mutation	SNP	A	TCGA-KO-8414-01A-11D-2310-10	2568	63681937	71324579	36	44419											
OR2AT4	341152	hgsc.bcm.edu	37	11	74800084	74800084	+	Silent	SNP	G	G	A			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr11:74800084G>A	ENST00000305159.3	-	1	715	c.675C>T	c.(673-675)caC>caT	p.H225H		NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT, member 4	225						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(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						AGGCCAGGATGTGGACATAGG	0.592																																																0													43	43	43					11																	74800084		2200	4293	6493	SO:0001819	synonymous_variant	341152			BK004820	CCDS31639.1	11q13.4	2012-08-09			ENSG00000171561	ENSG00000171561		"GPCR / Class A : Olfactory receptors"	19620	protein-coding gene	gene with protein product							Standard	NM_001005285		Approved		uc010rro.2	A6NND4	OTTHUMG00000165370	ENST00000305159.3:c.675C>T	11.37:g.74800084G>A			B9EGZ8	Silent	SNP	ENST00000305159.3	37	CCDS31639.1																																																																																				0.592	OR2AT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383734.1	NM_001005285		A	74800084	G	A	74800084	2	1	754	1	0	0	0	0	0	0	0	1	10989	1368	48	2		2	OR2AT4	11	74800084	Silent	SNP	G	TCGA-KO-8414-01A-11D-2310-10	11118147	74800084	60206432	37	44420											
CEP57	9702	broad.mit.edu	37	11	95561021	95561021	+	Silent	SNP	A	A	G			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr11:95561021A>G	ENST00000325542.5	+	9	1195	c.957A>G	c.(955-957)aaA>aaG	p.K319K	CEP57_ENST00000541150.1_Silent_p.K310K|CEP57_ENST00000325486.5_Silent_p.K293K|CEP57_ENST00000537677.1_Silent_p.K292K	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa	319	Mediates interaction with microtubules. {ECO:0000250}.				fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|mitotic cell cycle (GO:0000278)|protein homooligomerization (GO:0051260)|protein import into nucleus, translocation (GO:0000060)|spermatid development (GO:0007286)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	fibroblast growth factor binding (GO:0017134)|protein homodimerization activity (GO:0042803)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AACACAGTAAAGCTTTGTGCA	0.423									Mosaic Variegated Aneuploidy Syndrome																																							0													165	151	156					11																	95561021		2201	4298	6499	SO:0001819	synonymous_variant	9702	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	D42054	CCDS8304.1, CCDS58166.1, CCDS58167.1	11q21	2014-09-17			ENSG00000166037	ENSG00000166037			30794	protein-coding gene	gene with protein product		607951				7788527	Standard	NM_014679		Approved	Translokin, TSP57, KIAA0092	uc001pfp.2	Q86XR8	OTTHUMG00000167740	ENST00000325542.5:c.957A>G	11.37:g.95561021A>G			A0PJH1|A8K5D0|B4DDP5|F5H5F7|Q14704|Q5JB46|Q8IXP0|Q9BVF9	Silent	SNP	ENST00000325542.5	37	CCDS8304.1	.	.	.	.	.	.	.	.	.	.	A	6.608	0.480636	0.12581	.	.	ENSG00000166037	ENST00000535224	.	.	.	5.85	3.55	0.40652	.	.	.	.	.	T	0.59542	0.2201	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53585	-0.8418	4	.	.	.	-12.1297	9.8436	0.41013	0.8007:0.0:0.1993:0.0	.	.	.	.	G	109	.	.	S	+	1	0	CEP57	95200669	1.000000	0.71417	0.869000	0.34112	0.641000	0.38312	1.953000	0.40352	0.484000	0.27630	0.383000	0.25322	AGC		0.423	CEP57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395983.1	NM_014679		G	95561021	A	G	95561021	2	3	754	1	0	0	0	0	0	0	0	1	3258	69	3	3		3	CEP57	11	95561021	Silent	SNP	A	TCGA-KO-8414-01A-11D-2310-10	20760937	95561021	39445495	38	44421											
PDGFD	80310	bcgsc.ca	37	11	104034625	104034625	+	Frame_Shift_Del	DEL	A	A	-	rs199923487		TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr11:104034625delA	ENST00000393158.2	-	1	210	c.31delT	c.(31-33)ttcfs	p.F11fs	PDGFD_ENST00000302251.5_Frame_Shift_Del_p.F11fs			Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	11					cellular response to amino acid stimulus (GO:0071230)|multicellular organismal development (GO:0007275)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		TTTGCGCAGATTAGAGTGTAG	0.567											OREG0021315	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													63	63	63					11																	104034625		2202	4299	6501	SO:0001589	frameshift_variant	80310			AF113216	CCDS8326.1, CCDS41703.1	11q22.3	2008-02-05			ENSG00000170962	ENSG00000170962			30620	protein-coding gene	gene with protein product	"spinal cord derived growth factor B"	609673				11162582, 11980634	Standard	NM_033135		Approved	SCDGF-B, MSTP036, IEGF	uc001phq.3	Q9GZP0	OTTHUMG00000165953	ENST00000393158.2:c.31delT	11.37:g.104034625delA	ENSP00000376865:p.Phe11fs	1378	A8K9T6|Q9BWV5	Frame_Shift_Del	DEL	ENST00000393158.2	37	CCDS41703.1																																																																																				0.567	PDGFD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387231.2	NM_025208		-	104034625	A	-	104034625	7	5	754	1	0	1	0	1	0	0	0	0	11662	1493	52	0	1109	0	PDGFD	11	104034625	Frame_Shift_Del	DEL	A	TCGA-KO-8414-01A-11D-2310-10	8473604	104034625	30971891	39	44422											
FEZ1	9638	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	11	125359542	125359542	+	Silent	SNP	G	G	A	rs558361561	byFrequency	TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr11:125359542G>A	ENST00000278919.3	-	2	366	c.132C>T	c.(130-132)tcC>tcT	p.S44S	FEZ1_ENST00000366139.3_Silent_p.S44S|FEZ1_ENST00000524435.1_Silent_p.S44S	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN	fasciculation and elongation protein zeta 1 (zygin I)	44					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)		TCTCAAGCTCGGAGAGGGAGG	0.502													G|||	4	0.000798722	0.0	0.0	5008	,	,		18287	0.001		0.0	False		,,,				2504	0.0031				Melanoma(180;509 2033 10762 15939 24711)											0													64	70	68					11																	125359542		2201	4299	6500	SO:0001819	synonymous_variant	9638			U60060	CCDS31716.1, CCDS44758.1	11q24.2	2005-09-29			ENSG00000149557	ENSG00000149557			3659	protein-coding gene	gene with protein product		604825				9096408, 15843383	Standard	NM_005103		Approved		uc001qbx.3	Q99689	OTTHUMG00000165886	ENST00000278919.3:c.132C>T	11.37:g.125359542G>A			O00679|O00728|Q6IBI7	Silent	SNP	ENST00000278919.3	37	CCDS31716.1																																																																																				0.502	FEZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386875.1	NM_005103		A	125359542	G	A	125359542	2	1	754	1	0	0	0	0	0	0	0	1	5825	1103	39	1		1	FEZ1	11	125359542	Silent	SNP	G	TCGA-KO-8414-01A-11D-2310-10	21324917	125359542	9646974	40	44423											
PRH2	5555	mdanderson.org	37	12	11083356	11083356	+	Missense_Mutation	SNP	A	A	G	rs112809344|rs116998526	byFrequency	TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr12:11083356A>G	ENST00000396400.3	+	3	234	c.196A>G	c.(196-198)Aat>Gat	p.N66D	PRR4_ENST00000536668.1_Intron|PRH2_ENST00000381847.3_Missense_Mutation_p.N66D	NM_001110213.1	NP_001103683.1	P02810	PRPC_HUMAN	proline-rich protein HaeIII subfamily 2	66			D -> N (in allele PRH2-1; dbSNP:rs1049112). {ECO:0000269|Ref.4}.			extracellular space (GO:0005615)				breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	13						TGGGAACCAGAATGATGGCCC	0.582																																																0													135	130	132					12																	11083356		2173	4253	6426	SO:0001583	missense	5555				CCDS8636.1	12p13.2	2012-10-02				ENSG00000134551			9367	protein-coding gene	gene with protein product	"parotid proline-rich protein", "acidic salivary proline-rich protein, HaeIII type, 2"	168790				3009472	Standard	NM_005042		Approved	Pr	uc001qzi.4	P02810		ENST00000396400.3:c.196A>G	12.37:g.11083356A>G	ENSP00000379682:p.Asn66Asp		A2VCM0|A3KN66|A5D902|B2RMW2|Q4VBP2|Q53XA2|Q6P2F6	Missense_Mutation	SNP	ENST00000396400.3	37	CCDS8636.1	516	0.23626373626373626	107	0.21747967479674796	78	0.2154696132596685	120	0.2097902097902098	211	0.2783641160949868	a	0.001	-3.000061	0.00044	.	.	ENSG00000134551	ENST00000381847;ENST00000396400	T;T	0.16597	2.33;2.33	0.736	-1.47	0.08772	.	1.354520	0.05670	N	0.588505	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.31530	-0.9940	6	0.02654	T	1	.	2.7991	0.05409	0.458:0.2535:0.2885:0.0	.	.	.	.	D	66	ENSP00000371271:N66D;ENSP00000379682:N66D	ENSP00000371271:N66D	N	+	1	0	PRH2	10974623	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.671000	0.01954	-1.974000	0.00998	-0.614000	0.04051	AAT		0.582	PRH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400231.1	NM_001110213		G	11083356	A	G	11083356	3	3	754	1	0	0	0	0	1	0	0	0	12488	246	9	3	206	3	PRH2	12	11083356	Missense_Mutation	SNP	A	TCGA-KO-8414-01A-11D-2310-10		11083356	122768539	41	44424											
GXYLT1	283464	mdanderson.org	37	12	42512817	42512817	+	Silent	SNP	A	A	G	rs201566551		TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	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																																																0													71	64	66					12																	42512817		1859	4097	5956	SO:0001819	synonymous_variant	283464			BC015597	CCDS41771.1, CCDS41772.1	12q12	2013-10-11	2009-11-17	2009-11-17	ENSG00000151233	ENSG00000151233		"Glycosyltransferase family 8 domain containing"	27482	protein-coding gene	gene with protein product		613321	"glycosyltransferase 8 domain containing 3"	GLT8D3		19940119	Standard	NM_001099650		Approved	FLJ43151	uc001rms.4	Q4G148	OTTHUMG00000169379	ENST00000398675.3:c.471T>C	12.37:g.42512817A>G			B3KWJ2|Q8IXV1|Q96BH4	Silent	SNP	ENST00000398675.3	37	CCDS41772.1																																																																																				0.323	GXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403778.1	XM_290597		G	42512817	A	G	42512817	2	3	754	1	0	0	0	0	0	0	0	1	6905	446	16	3		3	GXYLT1	12	42512817	Silent	SNP	A	TCGA-KO-8414-01A-11D-2310-10	31429461	42512817	91339078	42	44425											
SYNE2	23224	bcgsc.ca	37	14	64445578	64445578	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr14:64445578A>G	ENST00000344113.4	+	14	1627	c.1415A>G	c.(1414-1416)aAc>aGc	p.N472S	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Missense_Mutation_p.N472S|SYNE2_ENST00000554584.1_Missense_Mutation_p.N472S	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	472					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)		AGAATCAACAACATTTTGGAG	0.289																																																0													52	49	50					14																	64445578		1789	4059	5848	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.1415A>G	14.37:g.64445578A>G	ENSP00000341781:p.Asn472Ser		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	A	10.21	1.287284	0.23478	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.55234	0.91;0.91;0.53	6.0	4.83	0.62350	.	0.197267	0.35067	N	0.003476	T	0.60573	0.2279	L	0.59436	1.845	0.80722	D	1	P;D	0.56035	0.956;0.974	P;P	0.57009	0.651;0.811	T	0.57189	-0.7854	10	0.30078	T	0.28	.	10.8847	0.46960	0.8596:0.0:0.0:0.1404	.	472;472	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	S	472	ENSP00000350719:N472S;ENSP00000341781:N472S;ENSP00000452570:N472S	ENSP00000261678:N472S	N	+	2	0	SYNE2	63515331	0.887000	0.30362	1.000000	0.80357	0.189000	0.23516	0.506000	0.22658	1.034000	0.39945	0.528000	0.53228	AAC		0.289	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		G	64445578	A	G	64445578	3	3	754	1	0	0	0	0	1	0	0	0	15451	43	2	3	1465	3	SYNE2	14	64445578	Missense_Mutation	SNP	A	TCGA-KO-8414-01A-11D-2310-10		64445578	42903962	43	44426											
PAPLN	89932	ucsc.edu	37	14	73721711	73721711	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr14:73721711T>C	ENST00000554301.1	+	13	1775	c.1612T>C	c.(1612-1614)Tgt>Cgt	p.C538R	PAPLN_ENST00000340738.5_Missense_Mutation_p.C511R|PAPLN_ENST00000381166.3_Missense_Mutation_p.C538R|PAPLN_ENST00000427855.1_Missense_Mutation_p.C538R|PAPLN_ENST00000555445.1_Missense_Mutation_p.C538R			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	538	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.					basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		CACGCAGCCCTGTCATCTCCC	0.642																																																0													35	35	35					14																	73721711		2203	4300	6503	SO:0001583	missense	89932			BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767		"Immunoglobulin superfamily / I-set domain containing"	19262	protein-coding gene	gene with protein product						11076767, 19734141	Standard	NM_173462		Approved	MGC50452	uc001xnw.4	O95428		ENST00000554301.1:c.1612T>C	14.37:g.73721711T>C	ENSP00000451803:p.Cys538Arg		B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Missense_Mutation	SNP	ENST00000554301.1	37		.	.	.	.	.	.	.	.	.	.	T	14.56	2.571985	0.45798	.	.	ENSG00000100767	ENST00000340738;ENST00000427855;ENST00000381166;ENST00000554301;ENST00000555445	D;D;D;D;D	0.98762	-5.12;-5.12;-5.12;-5.12;-5.12	4.55	4.55	0.56014	.	.	.	.	.	D	0.99527	0.9831	H	0.99415	4.555	0.80722	D	1	D;D;D	0.76494	0.997;0.997;0.999	D;D;D	0.70016	0.944;0.967;0.963	D	0.97673	1.0168	9	0.87932	D	0	.	14.063	0.64810	0.0:0.0:0.0:1.0	.	538;538;511	O95428-5;O95428;O95428-6	.;PPN_HUMAN;.	R	511;538;538;538;538	ENSP00000345395:C511R;ENSP00000403403:C538R;ENSP00000370558:C538R;ENSP00000451803:C538R;ENSP00000451729:C538R	ENSP00000216658:C538R	C	+	1	0	PAPLN	72791464	1.000000	0.71417	0.998000	0.56505	0.056000	0.15407	7.084000	0.76866	1.901000	0.55032	0.533000	0.62120	TGT		0.642	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000413182.1	NM_173462		C	73721711	T	C	73721711	3	2	754	1	0	0	0	0	1	0	0	0	11430	1580	55	3	1577	3	PAPLN	14	73721711	Missense_Mutation	SNP	T	TCGA-KO-8414-01A-11D-2310-10	9276133	73721711	33627829	44	44427											
AHNAK2	113146	mdanderson.org	37	14	105412138	105412138	+	Missense_Mutation	SNP	A	A	G	rs200384326		TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr14:105412138A>G	ENST00000333244.5	-	7	9769	c.9650T>C	c.(9649-9651)cTc>cCc	p.L3217P	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3217						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)			AGCTCCCTCGAGAACGTGGCC	0.602																																																0													112	72	85					14																	105412138		1914	4004	5918	SO:0001583	missense	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.9650T>C	14.37:g.105412138A>G	ENSP00000353114:p.Leu3217Pro		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	N	2.736	-0.263306	0.05754	.	.	ENSG00000185567	ENST00000333244	T	0.00554	6.64	2.59	2.59	0.31030	.	.	.	.	.	T	0.00178	0.0005	N	0.00128	-2.045	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.17837	-1.0356	8	0.30078	T	0.28	.	5.3502	0.16032	0.1716:0.0:0.8284:0.0	.	3217	Q8IVF2	AHNK2_HUMAN	P	3217	ENSP00000353114:L3217P	ENSP00000353114:L3217P	L	-	2	0	AHNAK2	104483183	0.000000	0.05858	0.005000	0.12908	0.003000	0.03518	-0.587000	0.05780	0.297000	0.22615	-0.971000	0.02607	CTC		0.602	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		G	105412138	A	G	105412138	3	3	754	1	0	0	0	0	1	0	0	0	415	304	11	3	7741	3	AHNAK2	14	105412138	Missense_Mutation	SNP	A	TCGA-KO-8414-01A-11D-2310-10	31690427	105412138	1937402	45	44428											
SETD1A	9739	broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	30990508	30990508	+	Missense_Mutation	SNP	C	C	G			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr16:30990508C>G	ENST00000262519.8	+	14	4087	c.3401C>G	c.(3400-3402)cCa>cGa	p.P1134R		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1134	Pro-rich. {ECO:0000255}.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CTGCGTCCCCCAGAACCACCT	0.682																																																0													8	9	8					16																	30990508		2120	4233	6353	SO:0001583	missense	9739			AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"Chromatin-modifying enzymes / K-methyltransferases", "RNA binding motif (RRM) containing"	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.3401C>G	16.37:g.30990508C>G	ENSP00000262519:p.Pro1134Arg		A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	SNP	ENST00000262519.8	37	CCDS32435.1	.	.	.	.	.	.	.	.	.	.	C	1.780	-0.482257	0.04383	.	.	ENSG00000099381	ENST00000262519	D	0.94376	-3.41	5.03	3.07	0.35406	.	0.432061	0.22293	N	0.061961	D	0.89643	0.6774	M	0.61703	1.905	0.09310	N	1	B	0.17465	0.022	B	0.11329	0.006	T	0.81965	-0.0691	10	0.66056	D	0.02	.	4.1573	0.10266	0.1617:0.579:0.0:0.2592	.	1134	O15047	SET1A_HUMAN	R	1134	ENSP00000262519:P1134R	ENSP00000262519:P1134R	P	+	2	0	SETD1A	30898009	0.000000	0.05858	0.692000	0.30179	0.179000	0.23085	0.663000	0.25053	0.522000	0.28464	-0.252000	0.11476	CCA		0.682	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		G	30990508	C	G	30990508	3	3	754	1	0	0	0	0	1	0	0	0	14136	594	21	4	3451	4	SETD1A	16	30990508	Missense_Mutation	SNP	C	TCGA-KO-8414-01A-11D-2310-10		30990508	59364245	46	44429											
TP53	7157	hgsc.bcm.edu;bcgsc.ca	37	17	7577543	7577543	+	Missense_Mutation	SNP	C	C	A	rs397516437		TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr17:7577543C>A	ENST00000269305.4	-	7	927	c.738G>T	c.(736-738)atG>atT	p.M246I	TP53_ENST00000455263.2_Missense_Mutation_p.M246I|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.M246I|TP53_ENST00000413465.2_Missense_Mutation_p.M246I|TP53_ENST00000445888.2_Missense_Mutation_p.M246I|TP53_ENST00000420246.2_Missense_Mutation_p.M246I	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.M246I(24)|p.0?(8)|p.?(5)|p.M246_P250delMNRRP(2)|p.C242fs*98(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)	GCCTCCGGTTCATGCCGCCCA	0.572		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	43	Substitution - Missense(24)|Whole gene deletion(8)|Unknown(5)|Deletion - In frame(3)|Deletion - Frameshift(3)	upper_aerodigestive_tract(8)|biliary_tract(5)|ovary(5)|central_nervous_system(4)|bone(4)|large_intestine(3)|stomach(3)|breast(3)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|liver(1)|lung(1)|skin(1)|pancreas(1)											152	113	126					17																	7577543		2203	4300	6503	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.738G>T	17.37:g.7577543C>A	ENSP00000269305:p.Met246Ile		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	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.604664	0.87157	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99789	-6.75;-6.75;-6.75;-6.75;-6.75;-6.75;-6.75;-6.75	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	0.99468	0.9811	L	0.33624	1.015	0.80722	D	1	P;B;B;D;P;D	0.76494	0.895;0.098;0.057;0.969;0.474;0.999	D;B;B;D;P;D	0.83275	0.931;0.24;0.082;0.959;0.865;0.996	D	0.97709	1.0189	10	0.87932	D	0	-28.5667	15.3618	0.74483	0.0:1.0:0.0:0.0	.	246;246;153;246;246;246	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	I	246;246;246;246;246;246;235;153;114;153	ENSP00000410739:M246I;ENSP00000352610:M246I;ENSP00000269305:M246I;ENSP00000398846:M246I;ENSP00000391127:M246I;ENSP00000391478:M246I;ENSP00000425104:M114I;ENSP00000423862:M153I	ENSP00000269305:M246I	M	-	3	0	TP53	7518268	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	ATG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577543	C	A	7577543	3	1	754	1	0	0	0	0	1	0	0	0	16386	826	29	4	552	4	TP53	17	7577543	Missense_Mutation	SNP	C	TCGA-KO-8414-01A-11D-2310-10		7577543	73617667	47	44430											
MYO15A	51168	broad.mit.edu	37	17	18025035	18025035	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr17:18025035C>T	ENST00000205890.5	+	2	3259	c.2921C>T	c.(2920-2922)cCc>cTc	p.P974L		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	974					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)					GTGCCATCCCCCACCCTCCAG	0.657																																																0													16	18	17					17																	18025035		1917	4121	6038	SO:0001583	missense	51168			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.2921C>T	17.37:g.18025035C>T	ENSP00000205890:p.Pro974Leu		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	c	11.45	1.642537	0.29246	.	.	ENSG00000091536	ENST00000205890	D	0.86562	-2.14	4.11	1.96	0.26148	.	.	.	.	.	T	0.75686	0.3883	N	0.19112	0.55	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.65467	-0.6161	9	0.72032	D	0.01	.	5.0866	0.14687	0.2025:0.6831:0.0:0.1144	.	974	Q9UKN7	MYO15_HUMAN	L	974	ENSP00000205890:P974L	ENSP00000205890:P974L	P	+	2	0	MYO15A	17965760	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.561000	0.23515	0.716000	0.32124	0.455000	0.32223	CCC		0.657	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		T	18025035	C	T	18025035	3	4	754	1	0	0	0	0	1	0	0	0	10065	623	22	2	2923	2	MYO15A	17	18025035	Missense_Mutation	SNP	C	TCGA-KO-8414-01A-11D-2310-10	10447492	18025035	63170175	48	44431											
CDC27	996	mdanderson.org	37	17	45234664	45234664	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr17:45234664C>T	ENST00000066544.3	-	6	655	c.562G>A	c.(562-564)Gta>Ata	p.V188I	CDC27_ENST00000446365.2_Missense_Mutation_p.V127I|CDC27_ENST00000527547.1_Missense_Mutation_p.V188I|CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000531206.1_Missense_Mutation_p.V188I	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	188					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						TGATTAGGTACTTGTGTTGTG	0.383																																																0													68	69	68					17																	45234664		2203	4300	6503	SO:0001583	missense	996			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.562G>A	17.37:g.45234664C>T	ENSP00000066544:p.Val188Ile		G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	C	8.291	0.817763	0.16607	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547;ENST00000526866	T;T;T;T;T	0.66815	-0.22;-0.22;0.05;-0.23;0.88	5.39	3.38	0.38709	.	0.290713	0.33364	N	0.004987	T	0.42131	0.1189	N	0.08118	0	0.37885	D	0.930507	B;B;B;B	0.13145	0.004;0.007;0.001;0.0	B;B;B;B	0.10450	0.002;0.005;0.002;0.001	T	0.32134	-0.9918	10	0.17369	T	0.5	-14.5769	10.538	0.45016	0.0:0.8363:0.0:0.1637	.	127;188;188;188	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	I	188;188;127;188;188	ENSP00000066544:V188I;ENSP00000434614:V188I;ENSP00000392802:V127I;ENSP00000437339:V188I;ENSP00000432105:V188I	ENSP00000066544:V188I	V	-	1	0	CDC27	42589663	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	3.765000	0.55272	1.285000	0.44548	-0.157000	0.13467	GTA		0.383	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			T	45234664	C	T	45234664	3	4	754	1	0	0	0	0	1	0	0	0	3068	565	20	2	1986	2	CDC27	17	45234664	Missense_Mutation	SNP	C	TCGA-KO-8414-01A-11D-2310-10	27209629	45234664	35960546	49	44432											
ATP8B3	148229	mdanderson.org	37	19	1789556	1789556	+	Silent	SNP	C	C	T	rs12978609	byFrequency	TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr19:1789556C>T	ENST00000310127.6	-	23	2887	c.2649G>A	c.(2647-2649)caG>caA	p.Q883Q	ATP8B3_ENST00000539485.1_Silent_p.Q893Q|ATP8B3_ENST00000525591.1_Silent_p.Q846Q	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	883					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)		CTCTGGAGTCCTGGGCTGGCG	0.706													.|||	1551	0.309704	0.2988	0.2882	5008	,	,		7109	0.4395		0.2515	False		,,,				2504	0.2658															0								C	,	1059,2769		176,707,1031	7	9	9		2538,2649	-4.6	0	19	dbSNP_121	9	1989,6143		269,1451,2346	no	coding-synonymous,coding-synonymous	ATP8B3	NM_001178002.1,NM_138813.2	,	445,2158,3377	TT,TC,CC		24.4589,27.6646,25.4849	,	846/1264,883/1301	1789556	3048,8912	1914	4066	5980	SO:0001819	synonymous_variant	148229			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.2649G>A	19.37:g.1789556C>T			Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Silent	SNP	ENST00000310127.6	37	CCDS45901.1																																																																																				0.706	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	NM_138813		T	1789556	C	T	1789556	2	4	754	1	0	0	0	0	0	0	0	1	1196	680	24	2		2	ATP8B3	19	1789556	Silent	SNP	C	TCGA-KO-8414-01A-11D-2310-10		1789556	57339427	50	44433											
OR10H2	26538	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	19	15839690	15839690	+	Silent	SNP	C	C	T	rs141193809	byFrequency	TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr19:15839690C>T	ENST00000305899.3	+	1	857	c.837C>T	c.(835-837)taC>taT	p.Y279Y		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	279						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					CCACCACCTACGCAGTCCTCA	0.532													c|||	5	0.000998403	0.0	0.0	5008	,	,		21943	0.004		0.001	False		,,,				2504	0.0															0													129	107	114					19																	15839690		2203	4300	6503	SO:0001819	synonymous_variant	26538			AC004597	CCDS12333.1	19p13.1	2012-08-09				ENSG00000171942		"GPCR / Class A : Olfactory receptors"	8173	protein-coding gene	gene with protein product							Standard	NM_013939		Approved		uc002nbm.2	O60403		ENST00000305899.3:c.837C>T	19.37:g.15839690C>T			Q6IFQ1|Q96R58	Silent	SNP	ENST00000305899.3	37	CCDS12333.1																																																																																				0.532	OR10H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460917.1			T	15839690	C	T	15839690	2	4	754	1	0	0	0	0	0	0	0	1	10908	547	19	1		1	OR10H2	19	15839690	Silent	SNP	C	TCGA-KO-8414-01A-11D-2310-10	14050134	15839690	43289293	51	44434											
PEG3	5178	broad.mit.edu;mdanderson.org;bcgsc.ca	37	19	57327003	57327003	+	Missense_Mutation	SNP	C	C	T	rs140722468		TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr19:57327003C>T	ENST00000326441.9	-	10	3170	c.2807G>A	c.(2806-2808)cGt>cAt	p.R936H	ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.R810H|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.R936H|PEG3_ENST00000598410.1_Missense_Mutation_p.R812H|ZIM2_ENST00000601070.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	936					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)		CTTTTTAGCACGAGCCTTCTG	0.448													C|||	1	0.000199681	0.0	0.0	5008	,	,		20637	0.001		0.0	False		,,,				2504	0.0															0													128	126	127					19																	57327003		2203	4300	6503	SO:0001583	missense	5178			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.2807G>A	19.37:g.57327003C>T	ENSP00000326581:p.Arg936His		A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	CCDS12948.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	10.94	1.492123	0.26774	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02890	4.12;4.12	3.99	3.99	0.46301	.	0.000000	0.47852	D	0.000214	T	0.08268	0.0206	M	0.68593	2.085	.	.	.	P;D;D	0.89917	0.663;1.0;1.0	B;D;D	0.85130	0.185;0.997;0.997	T	0.11941	-1.0567	9	0.02654	T	1	-28.6785	7.7783	0.29049	0.0:0.8895:0.0:0.1105	.	812;936;871	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	H	936	ENSP00000326581:R936H;ENSP00000403051:R936H	ENSP00000326581:R936H	R	-	2	0	ZIM2	62018815	0.980000	0.34600	1.000000	0.80357	0.998000	0.95712	2.527000	0.45615	2.539000	0.85634	0.655000	0.94253	CGT		0.448	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			T	57327003	C	T	57327003	3	4	754	1	0	0	0	0	1	0	0	0	11722	536	19	1	1963	1	PEG3	19	57327003	Missense_Mutation	SNP	C	TCGA-KO-8414-01A-11D-2310-10	41487313	57327003	1801980	52	44435											
ZNF814	730051	mdanderson.org	37	19	58385790	58385790	+	Missense_Mutation	SNP	G	G	T	rs111727691		TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr19:58385790G>T	ENST00000435989.2	-	3	1202	c.968C>A	c.(967-969)cCt>cAt	p.P323H	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	323					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ACATTCATAAGGTCTTTTCCC	0.358																																																0													15	12	13					19																	58385790		688	1563	2251	SO:0001583	missense	730051				CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.968C>A	19.37:g.58385790G>T	ENSP00000410545:p.Pro323His		A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	8.139	0.784825	0.16189	.	.	ENSG00000204514	ENST00000435989	T	0.29397	1.57	2.27	1.18	0.20946	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.57080	0.2029	M	0.90019	3.08	0.20764	N	0.999853	D	0.89917	1.0	D	0.67231	0.95	T	0.46247	-0.9205	9	0.66056	D	0.02	.	9.258	0.37595	0.0:0.0:0.7811:0.2189	.	323	B7Z6K7	ZN814_HUMAN	H	323	ENSP00000410545:P323H	ENSP00000410545:P323H	P	-	2	0	ZNF814	63077602	0.000000	0.05858	0.028000	0.17463	0.016000	0.09150	-0.439000	0.06897	0.330000	0.23485	-1.407000	0.01130	CCT		0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		T	58385790	G	T	58385790	3	4	754	1	0	0	0	0	1	0	0	0	18181	1000	35	4	1603	4	ZNF814	19	58385790	Missense_Mutation	SNP	G	TCGA-KO-8414-01A-11D-2310-10	1058787	58385790	743193	53	44436	462	3									
ZNF814	730051	mdanderson.org	37	19	58385793	58385793	+	Missense_Mutation	SNP	C	C	T	rs113623532		TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr19:58385793C>T	ENST00000435989.2	-	3	1199	c.965G>A	c.(964-966)aGa>aAa	p.R322K	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	322					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						TTCATAAGGTCTTTTCCCAGT	0.358																																																0													15	12	13					19																	58385793		687	1562	2249	SO:0001583	missense	730051				CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.965G>A	19.37:g.58385793C>T	ENSP00000410545:p.Arg322Lys		A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	0.023	-1.395361	0.01175	.	.	ENSG00000204514	ENST00000435989	T	0.12361	2.69	2.27	9.47E-4	0.14044	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03608	0.0103	N	0.02225	-0.63	0.09310	N	0.999999	B	0.29301	0.241	B	0.28916	0.096	T	0.40534	-0.9558	9	0.02654	T	1	.	4.6969	0.12808	0.0:0.4166:0.0:0.5834	.	322	B7Z6K7	ZN814_HUMAN	K	322	ENSP00000410545:R322K	ENSP00000410545:R322K	R	-	2	0	ZNF814	63077605	0.000000	0.05858	0.024000	0.17045	0.009000	0.06853	-1.883000	0.01623	0.331000	0.23511	-1.381000	0.01174	AGA		0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		T	58385793	C	T	58385793	3	4	754	1	0	0	0	0	1	0	0	0	18181	913	32	2	1606	2	ZNF814	19	58385793	Missense_Mutation	SNP	C	TCGA-KO-8414-01A-11D-2310-10	3	58385793	743190	54	44437	462	3									
ZNF814	730051	mdanderson.org	37	19	58385798	58385799	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	CC	CC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr19:58385798_58385799CC>TT	ENST00000435989.2	-	3	1193_1194	c.959_960GG>AA	c.(958-960)gGG>gAA	p.G320E	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	320					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G320E(1)|p.G320G(1)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AAGGTCTTTTCCCAGTGTGAAC	0.356																																																2	Substitution - Missense(1)|Substitution - coding silent(1)	central_nervous_system(2)																																								SO:0001583	missense	730051				CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.959_960delinsTT	19.37:g.58385798_58385799delinsTT	ENSP00000410545:p.Gly320Glu		A6NF35	Missense_Mutation	DNP	ENST00000435989.2	37	CCDS46212.1																																																																																				0.356	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		TT	58385799	CC	TT	58385798	3	4	754	1	0	0	0	0	1	0	0	0	18181	842	30	2	1611	2	ZNF814	19	58385798	Missense_Mutation	DNP	CC	TCGA-KO-8414-01A-11D-2310-10	5	58385798	743185	55	44438	462	3									
TMEM90B	79953	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	20	24646034	24646034	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr20:24646034G>A	ENST00000376862.3	+	4	1304	c.671G>A	c.(670-672)cGg>cAg	p.R224Q		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	224					intracellular protein transport (GO:0006886)|positive regulation of synapse assembly (GO:0051965)|response to biotic stimulus (GO:0009607)|synaptic vesicle clustering (GO:0097091)	cell body (GO:0044297)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	glutamate receptor binding (GO:0035254)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						ACCAGCTCCCGGCGGGCCCTA	0.587																																																0													124	135	132					20																	24646034		2203	4300	6503	SO:0001583	missense	79953			AK024282	CCDS13164.1	20p11.21	2011-06-30	2011-06-30	2011-06-30	ENSG00000101463	ENSG00000101463			15885	protein-coding gene	gene with protein product	"interferon induced transmembrane protein domain containing 5", "synapse differentiation induced gene 1"	614311	"chromosome 20 open reading frame 39", "transmembrane protein 90B"	C20orf39, TMEM90B		20152115	Standard	NM_024893		Approved	FLJ14220, IFITMD5, SynDIG1	uc002wtw.1	Q9H7V2	OTTHUMG00000032104	ENST00000376862.3:c.671G>A	20.37:g.24646034G>A	ENSP00000366058:p.Arg224Gln		Q6IA30|Q9H514	Missense_Mutation	SNP	ENST00000376862.3	37	CCDS13164.1	.	.	.	.	.	.	.	.	.	.	G	37	5.981175	0.97168	.	.	ENSG00000101463	ENST00000376862	D	0.86497	-2.13	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.90528	0.7032	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90420	0.4416	10	0.51188	T	0.08	-38.2043	17.4359	0.87552	0.0:0.0:1.0:0.0	.	224	Q9H7V2	SYNG1_HUMAN	Q	224	ENSP00000366058:R224Q	ENSP00000366058:R224Q	R	+	2	0	SYNDIG1	24594034	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.529000	0.98049	2.714000	0.92807	0.561000	0.74099	CGG		0.587	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078376.1	NM_024893		A	24646034	G	A	24646034	3	1	754	1	0	0	0	0	1	0	0	0	16224	1116	39	1	681	1	TMEM90B	20	24646034	Missense_Mutation	SNP	G	TCGA-KO-8414-01A-11D-2310-10		24646034	38379486	56	44439											
NCOA3	8202	mdanderson.org	37	20	46279827	46279827	+	Silent	SNP	G	G	A	rs6018623	byFrequency	TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr20:46279827G>A	ENST00000371998.3	+	20	3944	c.3753G>A	c.(3751-3753)caG>caA	p.Q1251Q	NCOA3_ENST00000341724.6_Silent_p.Q1177Q|NCOA3_ENST00000372004.3_Silent_p.Q1247Q|NCOA3_ENST00000371997.3_Silent_p.Q1242Q			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1251	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						agcagcagcagcagcagcaac	0.552													G|||	876	0.17492	0.1906	0.1571	5008	,	,		14950	0.1617		0.1928	False		,,,				2504	0.1616															0								G	,,,	850,3556	326.4+/-299.6	85,680,1438	49	55	53		3750,3726,3741,3753	4.4	1	20	dbSNP_114	53	959,7641	191.8+/-238.0	90,779,3431	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NCOA3	NM_001174087.1,NM_001174088.1,NM_006534.3,NM_181659.2	,,,	175,1459,4869	AA,AG,GG		11.1512,19.2919,13.909	,,,	1250/1424,1242/1416,1247/1421,1251/1425	46279827	1809,11197	2203	4300	6503	SO:0001819	synonymous_variant	8202			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.3753G>A	20.37:g.46279827G>A			A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	ENST00000371998.3	37	CCDS13407.1																																																																																				0.552	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		A	46279827	G	A	46279827	2	1	754	1	0	0	0	0	0	0	0	1	10232	962	34	2		2	NCOA3	20	46279827	Silent	SNP	G	TCGA-KO-8414-01A-11D-2310-10	21633793	46279827	16745693	57	44440											
UBXN11	91544	mdanderson.org	37	1	26608828	26608828	+	Missense_Mutation	SNP	G	G	A	rs66614970|rs1134584	byFrequency	TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr1:26608828G>A	ENST00000374222.1	-	16	1989	c.1525C>T	c.(1525-1527)Ccc>Tcc	p.P509S	UBXN11_ENST00000374217.2_Missense_Mutation_p.P476S|UBXN11_ENST00000374223.1_Missense_Mutation_p.P266S|UBXN11_ENST00000314675.7_Missense_Mutation_p.P389S|UBXN11_ENST00000374221.3_Missense_Mutation_p.P509S|UBXN11_ENST00000357089.4_Missense_Mutation_p.P476S			Q5T124	UBX11_HUMAN	UBX domain protein 11	509	3 X 8 AA tandem repeats of P-G-P-G-P-G-P- S.|Pro-rich.		P -> S (in dbSNP:rs17838088). {ECO:0000269|PubMed:14702039, ECO:0000269|Ref.2}.			cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.G490_P515delGPGPSPGPGPGPSPGPGPGPSPCPGP(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						cagggactggggccgggaccg	0.716													-|||	1970	0.393371	0.3555	0.402	5008	,	,		9393	0.3095		0.6292	False		,,,				2504	0.2822															1	Deletion - In frame(1)	ovary(1)						G	SER/PRO,SER/PRO,SER/PRO	1653,1827		423,807,510	15	18	17		1525,1426,1165		0.1	1	dbSNP_86	17	5288,2624		1813,1662,481	yes	missense,missense,missense	UBXN11	NM_183008.2,NM_145345.2,NM_001077262.1	74,74,74	2236,2469,991	AA,AG,GG		33.1648,47.5,39.0713	,,	509/521,476/488,389/401	26608828	6941,4451	1740	3956	5696	SO:0001583	missense	91544			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.1525C>T	1.37:g.26608828G>A	ENSP00000363339:p.Pro509Ser		D3DPK6|Q5T117|Q5T120|Q5T125|Q5T126|Q5T129|Q5T131|Q5T133|Q63HM6|Q71RB3|Q8IY27|Q8N1L6|Q8N9M4|Q8NA18|Q8NFE3|Q8NFE4|Q8NFE6	Missense_Mutation	SNP	ENST00000374222.1	37	CCDS41288.1	816	0.37362637362637363	167	0.3394308943089431	127	0.35082872928176795	149	0.26048951048951047	373	0.4920844327176781	-	0.571	-0.841059	0.02692	0.475	0.668352	ENSG00000158062	ENST00000314675;ENST00000374223;ENST00000357089;ENST00000374221;ENST00000374222;ENST00000374217	T;T;T;T;T;T	0.22945	2.0;1.93;1.95;2.0;2.0;1.95	.	.	.	.	0.324999	0.15808	U	0.243645	T	0.00012	0.0000	N	0.24115	0.695	0.54753	P	1.4999999999987246E-5	.	.	.	.	.	.	T	0.23261	-1.0193	5	0.36615	T	0.2	.	.	.	.	rs3196815	476;389;509	Q5T124-2;Q5T124-3;Q5T124	.;.;UBX11_HUMAN	S	389;266;476;509;509;476	ENSP00000324721:P389S;ENSP00000363340:P266S;ENSP00000349601:P476S;ENSP00000363338:P509S;ENSP00000363339:P509S;ENSP00000363334:P476S	ENSP00000324721:P389S	P	-	1	0	UBXN11	26481415	0.000000	0.05858	0.140000	0.22221	0.152000	0.21847	-0.877000	0.04197	0.064000	0.16427	0.064000	0.15345	CCC		0.716	UBXN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000009500.1	NM_145345		A	26608828	G	A	26608828	3	1	755	1	0	0	0	0	1	0	0	0	16918	1232	43	2	41	2	UBXN11	1	26608828	Missense_Mutation	SNP	G	TCGA-KO-8415-01A-11D-2310-10		26608828	222641793	1	44441											
NASP	4678	mdanderson.org	37	1	46073361	46073362	+	Missense_Mutation	DNP	CA	CA	TG	rs78094239|rs75187774	byFrequency	TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	CA	CA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr1:46073361_46073362CA>TG	ENST00000350030.3	+	6	865_866	c.778_779CA>TG	c.(778-780)CAg>TGg	p.Q260W	NASP_ENST00000537798.1_Missense_Mutation_p.Q196W|NASP_ENST00000372052.4_Intron|NASP_ENST00000351223.3_Intron|NASP_ENST00000402363.3_Missense_Mutation_p.Q262W	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	260	Glu-rich (acidic).				blastocyst development (GO:0001824)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone exchange (GO:0043486)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	Hsp90 protein binding (GO:0051879)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					AAAAGGAGGTCAGGAGAAGCAG	0.48																																																0																																										SO:0001583	missense	4678			M97856	CCDS524.1, CCDS525.1, CCDS55597.1	1p34.1	2013-01-10			ENSG00000132780	ENSG00000132780		"Tetratricopeptide (TTC) repeat domain containing"	7644	protein-coding gene	gene with protein product		603185				1426632	Standard	NM_002482		Approved	FLB7527, FLJ31599, FLJ35510, MGC19722, MGC20372, MGC2297, DKFZp547F162, PRO1999	uc001coi.2	P49321	OTTHUMG00000007826	Exception_encountered	1.37:g.46073361_46073362delinsTG	ENSP00000255120:p.Gln260Trp		A8K6H2|B4DQP3|D3DQ07|F5H3J2|Q53GW5|Q5T622|Q5T625|Q96A69|Q9BTW2	Missense_Mutation	DNP	ENST00000350030.3	37	CCDS524.1																																																																																				0.48	NASP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021533.2	NM_002482		TG	46073362	CA	TG	46073361	3	4	755	1	0	0	0	0	1	0	0	0	10174	827	29	2	877	2	NASP	1	46073361	Missense_Mutation	DNP	CA	TCGA-KO-8415-01A-11D-2310-10	19464533	46073361	203177260	2	44442			1	122		2	2	13	N	G_CA	3.062292e-05
NASP	4678	mdanderson.org	37	1	46073373	46073373	+	Missense_Mutation	SNP	G	G	A	rs199792714	byFrequency	TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr1:46073373G>A	ENST00000350030.3	+	6	877	c.790G>A	c.(790-792)Gga>Aga	p.G264R	NASP_ENST00000537798.1_Missense_Mutation_p.G200R|NASP_ENST00000372052.4_Intron|NASP_ENST00000351223.3_Intron|NASP_ENST00000402363.3_Missense_Mutation_p.G266R	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	264	Glu-rich (acidic).				blastocyst development (GO:0001824)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone exchange (GO:0043486)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	Hsp90 protein binding (GO:0051879)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					GGAGAAGCAGGGAGAGGTAAT	0.478																																																0													44	47	46					1																	46073373		2203	4300	6503	SO:0001583	missense	4678			M97856	CCDS524.1, CCDS525.1, CCDS55597.1	1p34.1	2013-01-10			ENSG00000132780	ENSG00000132780		"Tetratricopeptide (TTC) repeat domain containing"	7644	protein-coding gene	gene with protein product		603185				1426632	Standard	NM_002482		Approved	FLB7527, FLJ31599, FLJ35510, MGC19722, MGC20372, MGC2297, DKFZp547F162, PRO1999	uc001coi.2	P49321	OTTHUMG00000007826	ENST00000350030.3:c.790G>A	1.37:g.46073373G>A	ENSP00000255120:p.Gly264Arg		A8K6H2|B4DQP3|D3DQ07|F5H3J2|Q53GW5|Q5T622|Q5T625|Q96A69|Q9BTW2	Missense_Mutation	SNP	ENST00000350030.3	37	CCDS524.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.306595	0.81247	.	.	ENSG00000132780	ENST00000537798;ENST00000402363;ENST00000341288;ENST00000350030;ENST00000470768	D;D;D;D	0.94650	-3.48;-3.48;-3.48;-3.48	5.37	5.37	0.77165	.	0.623202	0.16964	N	0.192395	D	0.93615	0.7961	L	0.32530	0.975	0.43412	D	0.995555	P;P;D;P;P	0.53619	0.928;0.933;0.961;0.883;0.919	P;P;P;B;B	0.50405	0.565;0.542;0.64;0.231;0.408	D	0.92054	0.5651	9	.	.	.	-3.2525	20.0097	0.97446	0.0:0.0:1.0:0.0	.	200;264;164;264;266	F5H3J2;Q53H03;B4DS57;P49321;P49321-3	.;.;.;NASP_HUMAN;.	R	200;266;164;264;227	ENSP00000438871:G200R;ENSP00000384529:G266R;ENSP00000255120:G264R;ENSP00000436924:G227R	.	G	+	1	0	NASP	45845960	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.877000	0.39598	2.902000	0.99343	0.650000	0.86243	GGA		0.478	NASP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021533.2	NM_002482		A	46073373	G	A	46073373	3	1	755	1	0	0	0	0	1	0	0	0	10174	1233	43	2	889	2	NASP	1	46073373	Missense_Mutation	SNP	G	TCGA-KO-8415-01A-11D-2310-10	12	46073373	203177248	3	44443			1	122		2	2	13	N	G_CA	3.062292e-05
FAM189B	10712	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	155224214	155224214	+	Missense_Mutation	SNP	A	A	T			TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr1:155224214A>T	ENST00000361361.2	-	2	768	c.259T>A	c.(259-261)Tgg>Agg	p.W87R	SCAMP3_ENST00000472397.1_5'Flank|FAM189B_ENST00000368368.3_Intron|FAM189B_ENST00000472550.1_5'UTR|FAM189B_ENST00000350210.2_Intron	NM_006589.2	NP_006580.2	P81408	F189B_HUMAN	family with sequence similarity 189, member B	87						integral component of membrane (GO:0016021)	WW domain binding (GO:0050699)			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						GGCCGCTTCCAGGACACAATG	0.632																																																0													76	76	76					1																	155224214		2203	4300	6503	SO:0001583	missense	10712			AF070550	CCDS1103.1, CCDS1104.1, CCDS58035.1	1q21	2009-07-09	2009-07-09	2009-07-09	ENSG00000160767	ENSG00000160767			1233	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 2"	C1orf2		9331372	Standard	NM_006589		Approved	cote1	uc001fjm.3	P81408	OTTHUMG00000035844	ENST00000361361.2:c.259T>A	1.37:g.155224214A>T	ENSP00000354958:p.Trp87Arg		B1AVS5|Q8IXL3|Q9BR66	Missense_Mutation	SNP	ENST00000361361.2	37	CCDS1103.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.240778	0.79912	.	.	ENSG00000160767	ENST00000361361	T	0.02258	4.37	4.46	4.46	0.54185	.	0.000000	0.64402	D	0.000001	T	0.05960	0.0155	M	0.65975	2.015	0.46298	D	0.99897	D	0.76494	0.999	D	0.87578	0.998	T	0.05338	-1.0891	10	0.87932	D	0	.	11.9955	0.53201	1.0:0.0:0.0:0.0	.	87	P81408	F189B_HUMAN	R	87	ENSP00000354958:W87R	ENSP00000354958:W87R	W	-	1	0	FAM189B	153490838	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.248000	0.78268	1.989000	0.58080	0.459000	0.35465	TGG		0.632	FAM189B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087224.1	NM_006589		T	155224214	A	T	155224214	3	4	755	1	0	0	0	0	1	0	0	0	5519	188	7	5	1791	5	FAM189B	1	155224214	Missense_Mutation	SNP	A	TCGA-KO-8415-01A-11D-2310-10	109150841	155224214	94026407	4	44444											
FAM5C	339479	hgsc.bcm.edu;ucsc.edu	37	1	190067565	190067565	+	Silent	SNP	G	G	A			TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr1:190067565G>A	ENST00000367462.3	-	8	2115	c.1884C>T	c.(1882-1884)taC>taT	p.Y628Y	BRINP3_ENST00000534846.1_Silent_p.Y526Y	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	628					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											GACTTCTCAGGTAGATGTGTA	0.453																																																0													223	233	230					1																	190067565		2203	4300	6503	SO:0001819	synonymous_variant	339479			AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"family with sequence similarity 5, member C"	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1884C>T	1.37:g.190067565G>A			B3KVP1|B7Z260|O95726|Q2M330	Silent	SNP	ENST00000367462.3	37	CCDS1373.1																																																																																				0.453	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		A	190067565	G	A	190067565	2	1	755	1	0	0	0	0	0	0	0	1	5596	1256	44	2		2	FAM5C	1	190067565	Silent	SNP	G	TCGA-KO-8415-01A-11D-2310-10	34843351	190067565	59183056	5	44445											
OR14C36	127066	mdanderson.org	37	1	248512749	248512749	+	Missense_Mutation	SNP	G	G	A	rs28377739	byFrequency	TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr1:248512749G>A	ENST00000317861.1	+	1	673	c.673G>A	c.(673-675)Ggg>Agg	p.G225R		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	225			G -> R (in dbSNP:rs28377739).			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(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						GACCGTGCTCGGGTTTCCAAG	0.498													a|||	2306	0.460463	0.3601	0.4885	5008	,	,		19309	0.4315		0.5239	False		,,,				2504	0.5409															0								A	ARG/GLY	1764,2642	643.9+/-397.9	352,1060,791	191	146	161		673	1.2	0	1	dbSNP_125	161	4894,3706	530.1+/-381.7	1390,2114,796	yes	missense	OR14C36	NM_001001918.1	125	1742,3174,1587	AA,AG,GG		43.093,40.0363,48.8082	benign	225/313	248512749	6658,6348	2203	4300	6503	SO:0001583	missense	127066			BK004466	CCDS31112.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000177174	ENSG00000177174		"GPCR / Class A : Olfactory receptors"	15026	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily BF, member 1"	OR5BF1			Standard	NM_001001918		Approved		uc010pzl.2	Q8NHC7	OTTHUMG00000040463	ENST00000317861.1:c.673G>A	1.37:g.248512749G>A	ENSP00000324534:p.Gly225Arg		Q6IEZ6	Missense_Mutation	SNP	ENST00000317861.1	37	CCDS31112.1	1006	0.4606227106227106	169	0.3434959349593496	179	0.494475138121547	253	0.4423076923076923	405	0.5343007915567283	A	0.005	-2.203520	0.00296	0.400363	0.56907	ENSG00000177174	ENST00000317861	T	0.00019	9.06	3.91	1.2	0.21068	GPCR, rhodopsin-like superfamily (1);	0.422559	0.19555	N	0.111462	T	0.00012	0.0000	N	0.00227	-1.8	0.80722	P	0.0	B	0.09022	0.002	B	0.01281	0.0	T	0.37776	-0.9691	9	0.02654	T	1	.	6.3589	0.21417	0.6176:0.2982:0.0841:0.0	rs28377739	225	Q8NHC7	O14CZ_HUMAN	R	225	ENSP00000324534:G225R	ENSP00000324534:G225R	G	+	1	0	OR14C36	246579372	0.000000	0.05858	0.035000	0.18076	0.144000	0.21451	0.145000	0.16157	0.101000	0.17610	-1.086000	0.02197	GGG		0.498	OR14C36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097359.1	NM_001001918		A	248512749	G	A	248512749	3	1	755	1	0	0	0	0	1	0	0	0	10948	1116	39	1	675	1	OR14C36	1	248512749	Missense_Mutation	SNP	G	TCGA-KO-8415-01A-11D-2310-10	58445184	248512749	737872	6	44446											
XDH	7498	broad.mit.edu;ucsc.edu;mdanderson.org	37	2	31621476	31621476	+	Silent	SNP	G	G	A			TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr2:31621476G>A	ENST00000379416.3	-	5	444	c.396C>T	c.(394-396)ccC>ccT	p.P132P		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	132					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)	TGGTGGGCTCGGGCTGATTCC	0.567																																					Colon(66;682 1445 30109 40147)											0													130	123	125					2																	31621476		2203	4300	6503	SO:0001819	synonymous_variant	7498			D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"xanthene dehydrogenase"			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.396C>T	2.37:g.31621476G>A			Q16681|Q16712|Q4PJ16	Silent	SNP	ENST00000379416.3	37	CCDS1775.1																																																																																				0.567	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		A	31621476	G	A	31621476	2	1	755	1	0	0	0	0	0	0	0	1	17431	1103	39	1		1	XDH	2	31621476	Silent	SNP	G	TCGA-KO-8415-01A-11D-2310-10		31621476	211577897	7	44447											
TEKT4	150483	mdanderson.org	37	2	95539855	95539855	+	Splice_Site	SNP	T	T	G	rs201662522	byFrequency	TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr2:95539855T>G	ENST00000295201.4	+	3	850		c.e3+2		AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4						cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						CCAAGAGAGGTGGGCCCCAGC	0.682																																																0													56	54	55					2																	95539855		2203	4300	6503	SO:0001630	splice_region_variant	150483			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.713+2T>G	2.37:g.95539855T>G				Splice_Site	SNP	ENST00000295201.4	37	CCDS2005.1	.	.	.	.	.	.	.	.	.	.	.	13.70	2.316724	0.40996	.	.	ENSG00000163060	ENST00000295201	.	.	.	2.24	2.24	0.28232	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.0143	0.30372	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	TEKT4	94903582	1.000000	0.71417	0.603000	0.28903	0.057000	0.15508	4.740000	0.62087	0.779000	0.33543	0.254000	0.18369	.		0.682	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1	NM_144705	Intron	G	95539855	T	G	95539855	5	3	755	1	0	0	0	0	0	0	1	0	15760	1710	59	5	725	5	TEKT4	2	95539855	Splice_Site	SNP	T	TCGA-KO-8415-01A-11D-2310-10	63918379	95539855	147659518	8	44448											
GTDC1	79712	broad.mit.edu	37	2	144765015	144765015	+	Silent	SNP	A	A	G			TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr2:144765015A>G	ENST00000392869.2	-	6	761	c.609T>C	c.(607-609)ccT>ccC	p.P203P	GTDC1_ENST00000409298.1_Intron|GTDC1_ENST00000344850.4_Silent_p.P203P|GTDC1_ENST00000542155.1_Silent_p.P203P|GTDC1_ENST00000392867.3_Silent_p.P203P|GTDC1_ENST00000409214.1_Silent_p.P203P|GTDC1_ENST00000241391.5_Silent_p.P203P|GTDC1_ENST00000463875.2_Silent_p.P74P	NM_001284234.1	NP_001271163.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	203					biosynthetic process (GO:0009058)		transferase activity, transferring glycosyl groups (GO:0016757)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		CTGGCTGAAAAGGAAGGGCCA	0.423																																																0													77	78	77					2																	144765015		2203	4300	6503	SO:0001819	synonymous_variant	79712			AY281366	CCDS2185.1, CCDS33300.1, CCDS63029.1, CCDS74582.1, CCDS74583.1	2q22.3	2013-02-22			ENSG00000121964	ENSG00000121964		"Glycosyltransferase group 1 domain containing"	20887	protein-coding gene	gene with protein product	"mannosyltransferase-like"	610165				15068588, 21821951	Standard	NM_024659		Approved	FLJ11753, Hmat-Xa	uc010fnn.3	Q4AE62	OTTHUMG00000131835	ENST00000392869.2:c.609T>C	2.37:g.144765015A>G			A8K5P2|D3DP81|Q53SM7|Q53TC5|Q6P7E7|Q6PJB6|Q6WKW6|Q9HAE5	Silent	SNP	ENST00000392869.2	37	CCDS33300.1																																																																																				0.423	GTDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254779.2	NM_024659		G	144765015	A	G	144765015	2	3	755	1	0	0	0	0	0	0	0	1	6853	59	3	3		3	GTDC1	2	144765015	Silent	SNP	A	TCGA-KO-8415-01A-11D-2310-10	49225160	144765015	98434358	9	44449											
TNS1	7145	broad.mit.edu	37	2	218713275	218713275	+	Silent	SNP	C	C	T			TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr2:218713275C>T	ENST00000171887.4	-	17	2042	c.1590G>A	c.(1588-1590)gaG>gaA	p.E530E	TNS1_ENST00000419504.1_Silent_p.E530E|TNS1_ENST00000430930.1_Silent_p.E530E|TNS1_ENST00000480665.1_5'UTR	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	530					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GGTAGCCCCCCTCACTGGTGT	0.592																																																0													64	69	67					2																	218713275		2203	4300	6503	SO:0001819	synonymous_variant	7145			AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	11973	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 155"	600076	"tensin", "matrix-remodelling associated 6"	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.1590G>A	2.37:g.218713275C>T			Q4ZG71|Q6IPI5	Silent	SNP	ENST00000171887.4	37	CCDS2407.1																																																																																				0.592	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		T	218713275	C	T	218713275	2	4	755	1	0	0	0	0	0	0	0	1	16348	680	24	2		2	TNS1	2	218713275	Silent	SNP	C	TCGA-KO-8415-01A-11D-2310-10	73948260	218713275	24486098	10	44450											
USP37	57695	broad.mit.edu	37	2	219350461	219350461	+	Silent	SNP	T	T	C			TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr2:219350461T>C	ENST00000258399.3	-	16	2008	c.1596A>G	c.(1594-1596)gaA>gaG	p.E532E	USP37_ENST00000454775.1_Silent_p.E532E|USP37_ENST00000415516.1_Silent_p.E460E|USP37_ENST00000475553.1_5'UTR|USP37_ENST00000418019.1_Silent_p.E532E	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	532	USP.				G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		ACTCCAGTTCTTCGGCCTATA	0.333																																																0													104	109	107					2																	219350461		2203	4300	6503	SO:0001819	synonymous_variant	57695			AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913		"Ubiquitin-specific peptidases"	20063	protein-coding gene	gene with protein product			"ubiquitin specific protease 37"			12838346	Standard	NM_020935		Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000258399.3:c.1596A>G	2.37:g.219350461T>C			A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Silent	SNP	ENST00000258399.3	37	CCDS2418.1																																																																																				0.333	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256779.3	NM_020935		C	219350461	T	C	219350461	2	2	755	1	0	0	0	0	0	0	0	1	17073	1606	56	3		3	USP37	2	219350461	Silent	SNP	T	TCGA-KO-8415-01A-11D-2310-10	637186	219350461	23848912	11	44451											
OR5H1	26341	broad.mit.edu	37	3	97851659	97851659	+	Missense_Mutation	SNP	A	A	T	rs199787047	byFrequency	TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr3:97851659A>T	ENST00000354565.2	+	1	118	c.118A>T	c.(118-120)Atg>Ttg	p.M40L	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	40						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M40L(3)		breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						CATCACCATCATGGGGAATCT	0.413																																																3	Substitution - Missense(3)	kidney(2)|endometrium(1)											45	49	48					3																	97851659		2174	4242	6416	SO:0001583	missense	26341			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.118A>T	3.37:g.97851659A>T	ENSP00000346575:p.Met40Leu			Missense_Mutation	SNP	ENST00000354565.2	37	CCDS33797.1	.	.	.	.	.	.	.	.	.	.	A	3.067	-0.192020	0.06299	.	.	ENSG00000231192	ENST00000354565	T	0.00241	8.46	3.63	-0.16	0.13375	.	0.578292	0.14348	N	0.325303	T	0.00073	0.0002	N	0.04116	-0.275	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.04976	-1.0914	10	0.33940	T	0.23	.	7.0903	0.25279	0.5661:0.0:0.4339:0.0	.	40	A6NKK0	OR5H1_HUMAN	L	40	ENSP00000346575:M40L	ENSP00000346575:M40L	M	+	1	0	OR5H1	99334349	0.000000	0.05858	0.016000	0.15963	0.102000	0.19082	-3.263000	0.00535	-0.297000	0.08934	0.164000	0.16699	ATG		0.413	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359100.2	NM_001005338		T	97851659	A	T	97851659	3	4	755	1	0	0	0	0	1	0	0	0	11161	217	8	5	120	5	OR5H1	3	97851659	Missense_Mutation	SNP	A	TCGA-KO-8415-01A-11D-2310-10		97851659	100170771	12	44452											
ARGFX	503582	bcgsc.ca	37	3	121304933	121304933	+	Missense_Mutation	SNP	G	G	A	rs9813391	byFrequency	TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr3:121304933G>A	ENST00000334384.3	+	4	444	c.434G>A	c.(433-435)cGa>cAa	p.R145Q		NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN	arginine-fifty homeobox	145			R -> Q (in dbSNP:rs9813391).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		GCAAAGCAACGAAACCAGATC	0.502													G|||	857	0.171126	0.1127	0.4438	5008	,	,		19879	0.0506		0.2545	False		,,,				2504	0.0951															0								G	GLN/ARG	613,3793	263.1+/-265.3	38,537,1628	123	113	116		434	-0.9	0	3	dbSNP_119	116	2371,6229	390.0+/-343.1	324,1723,2253	yes	missense	ARGFX	NM_001012659.1	43	362,2260,3881	AA,AG,GG		27.5698,13.9128,22.9433	benign	145/316	121304933	2984,10022	2203	4300	6503	SO:0001583	missense	503582				CCDS33834.1	3q13.33	2011-06-20			ENSG00000186103	ENSG00000186103		"Homeoboxes / PRD class"	30146	protein-coding gene	gene with protein product		611164					Standard	XM_005247505		Approved		uc003eef.3	A6NJG6	OTTHUMG00000159395	ENST00000334384.3:c.434G>A	3.37:g.121304933G>A	ENSP00000335578:p.Arg145Gln			Missense_Mutation	SNP	ENST00000334384.3	37	CCDS33834.1	440	0.20146520146520147	64	0.13008130081300814	142	0.39226519337016574	30	0.05244755244755245	204	0.2691292875989446	G	0.150	-1.091973	0.01858	0.139128	0.275698	ENSG00000186103	ENST00000334384	D	0.88354	-2.37	3.32	-0.937	0.10415	.	1.246050	0.06010	N	0.649304	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.16396	0.017	B	0.04013	0.001	T	0.04165	-1.0972	9	0.10111	T	0.7	-0.0198	2.7093	0.05170	0.1684:0.3796:0.344:0.108	rs9813391;rs17741793;rs52830852;rs9813391	145	A6NJG6	ARGFX_HUMAN	Q	145	ENSP00000335578:R145Q	ENSP00000335578:R145Q	R	+	2	0	ARGFX	122787623	0.000000	0.05858	0.000000	0.03702	0.053000	0.15095	-0.293000	0.08320	-0.190000	0.10465	-0.270000	0.10280	CGA		0.502	ARGFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355096.2	NM_001012659		A	121304933	G	A	121304933	3	1	755	1	0	0	0	0	1	0	0	0	859	1058	37	1	448	1	ARGFX	3	121304933	Missense_Mutation	SNP	G	TCGA-KO-8415-01A-11D-2310-10	23453274	121304933	76717497	13	44453											
F2R	2149	broad.mit.edu	37	5	76029194	76029194	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr5:76029194G>A	ENST00000319211.4	+	2	1409	c.1144G>A	c.(1144-1146)Gtc>Atc	p.V382I		NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN	coagulation factor II (thrombin) receptor	382					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)	CCAGAGGTACGTCTACAGTAT	0.473																																																0													115	115	115					5																	76029194		2203	4300	6503	SO:0001583	missense	2149			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.1144G>A	5.37:g.76029194G>A	ENSP00000321326:p.Val382Ile		Q53XV0|Q96RF7|Q9BUN4	Missense_Mutation	SNP	ENST00000319211.4	37	CCDS4032.1	.	.	.	.	.	.	.	.	.	.	G	5.320	0.244382	0.10077	.	.	ENSG00000181104	ENST00000319211	T	0.37752	1.18	4.79	3.91	0.45181	.	0.136796	0.49305	D	0.000147	T	0.19765	0.0475	N	0.14661	0.345	0.80722	D	1	B	0.18310	0.027	B	0.08055	0.003	T	0.04930	-1.0917	10	0.45353	T	0.12	-25.1425	7.4328	0.27137	0.0:0.707:0.1446:0.1484	.	382	P25116	PAR1_HUMAN	I	382	ENSP00000321326:V382I	ENSP00000321326:V382I	V	+	1	0	F2R	76064950	1.000000	0.71417	0.923000	0.36655	0.445000	0.32107	1.883000	0.39658	1.368000	0.46115	-0.539000	0.04255	GTC		0.473	F2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254068.2			A	76029194	G	A	76029194	3	1	755	1	0	0	0	0	1	0	0	0	5345	1145	40	1	1150	1	F2R	5	76029194	Missense_Mutation	SNP	G	TCGA-KO-8415-01A-11D-2310-10		76029194	104886066	14	44454											
GPR98	84059	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	5	89981756	89981756	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr5:89981756G>A	ENST00000405460.2	+	29	6530	c.6434G>A	c.(6433-6435)gGa>gAa	p.G2145E		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2145	Calx-beta 15. {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)		AGAACAGGAGGAGCATTTGCA	0.418																																																0													84	75	78					5																	89981756		1914	4129	6043	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.6434G>A	5.37:g.89981756G>A	ENSP00000384582:p.Gly2145Glu		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	32	5.164873	0.94727	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.37411	1.2	5.59	5.59	0.84812	Na-Ca exchanger/integrin-beta4 (2);	0.000000	0.85682	D	0.000000	T	0.66703	0.2816	M	0.84433	2.695	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69702	-0.5074	10	0.54805	T	0.06	.	19.5929	0.95523	0.0:0.0:1.0:0.0	.	2145	Q8WXG9	GPR98_HUMAN	E	2145	ENSP00000384582:G2145E	ENSP00000296619:G2145E	G	+	2	0	GPR98	90017512	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.624000	0.98398	2.626000	0.88956	0.591000	0.81541	GGA		0.418	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		A	89981756	G	A	89981756	3	1	755	1	0	0	0	0	1	0	0	0	6723	1174	41	2	6548	2	GPR98	5	89981756	Missense_Mutation	SNP	G	TCGA-KO-8415-01A-11D-2310-10	13952562	89981756	90933504	15	44455											
PCDHGA4	56111	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	5	140736273	140736273	+	Silent	SNP	C	C	T			TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr5:140736273C>T	ENST00000571252.1	+	1	1506	c.1506C>T	c.(1504-1506)tcC>tcT	p.S502S	PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	502	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCTCTGTCCTCCTATGTCT	0.512																																																0													128	135	133					5																	140736273		2096	4248	6344	SO:0001819	synonymous_variant	56111			AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.1506C>T	5.37:g.140736273C>T			Q9Y5D3	Silent	SNP	ENST00000571252.1	37	CCDS58979.1																																																																																				0.512	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	NM_018917		T	140736273	C	T	140736273	2	4	755	1	0	0	0	0	0	0	0	1	11558	668	24	2		2	PCDHGA4	5	140736273	Silent	SNP	C	TCGA-KO-8415-01A-11D-2310-10	50754517	140736273	40178987	16	44456											
RANBP17	64901	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	5	170725856	170725856	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr5:170725856G>A	ENST00000523189.1	+	28	3425	c.3261G>A	c.(3259-3261)atG>atA	p.M1087I	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	1087					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)			TCGACATGATGAGCTGACCCG	0.517			T	TRD@	ALL																																		Dom	yes		5	5q34	64901	RAN binding protein 17		L	0													104	85	91					5																	170725856		2203	4300	6503	SO:0001583	missense	64901			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.3261G>A	5.37:g.170725856G>A	ENSP00000427975:p.Met1087Ile		Q8IU74	Missense_Mutation	SNP	ENST00000523189.1	37	CCDS34287.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.669902	0.47677	.	.	ENSG00000204764	ENST00000523189;ENST00000534916	T	0.22743	1.94	5.87	5.87	0.94306	.	0.148962	0.48286	D	0.000195	T	0.20373	0.0490	L	0.38175	1.15	0.35735	D	0.818246	B	0.30793	0.295	B	0.27608	0.081	T	0.09907	-1.0653	10	0.49607	T	0.09	-17.8979	17.9912	0.89170	0.0:0.0:1.0:0.0	.	1087	Q9H2T7	RBP17_HUMAN	I	1087;517	ENSP00000427975:M1087I	ENSP00000427975:M1087I	M	+	3	0	RANBP17	170658461	1.000000	0.71417	1.000000	0.80357	0.266000	0.26442	7.541000	0.82084	2.785000	0.95823	0.655000	0.94253	ATG		0.517	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1	NM_022897		A	170725856	G	A	170725856	3	1	755	1	0	0	0	0	1	0	0	0	13033	1290	45	2	3371	2	RANBP17	5	170725856	Missense_Mutation	SNP	G	TCGA-KO-8415-01A-11D-2310-10	29989583	170725856	10189404	17	44457											
MDC1	9656	ucsc.edu	37	6	30681950	30681950	+	Silent	SNP	T	T	C			TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr6:30681950T>C	ENST00000376406.3	-	3	794	c.147A>G	c.(145-147)ctA>ctG	p.L49L	MDC1_ENST00000494654.1_5'Flank|MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Silent_p.L49L	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	49	Interaction with CHEK2.|Interaction with the MRN complex.				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						TCCCGAGGTGTAGTGGGAAAT	0.463								Other conserved DNA damage response genes																																								0													42	40	41					6																	30681950		1506	2696	4202	SO:0001819	synonymous_variant	9656			D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.147A>G	6.37:g.30681950T>C			A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Silent	SNP	ENST00000376406.3	37	CCDS34384.1																																																																																				0.463	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		C	30681950	T	C	30681950	2	2	755	1	0	0	0	0	0	0	0	1	9405	1625	57	3		3	MDC1	6	30681950	Silent	SNP	T	TCGA-KO-8415-01A-11D-2310-10		30681950	140433117	18	44458											
SLC26A8	116369	bcgsc.ca	37	6	35918965	35918965	+	Missense_Mutation	SNP	C	C	T	rs116200048|rs35886585	byFrequency	TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr6:35918965C>T	ENST00000490799.1	-	19	2800	c.2447G>A	c.(2446-2448)cGg>cAg	p.R816Q	SLC26A8_ENST00000394602.2_Missense_Mutation_p.R711Q|SLC26A8_ENST00000355574.2_Missense_Mutation_p.R816Q	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						GTAGGTTTCCCGTATCACTGT	0.542													C|||	10	0.00199681	0.0	0.0043	5008	,	,		16596	0.0		0.007	False		,,,				2504	0.0															0								C	GLN/ARG,GLN/ARG,GLN/ARG	7,4399	12.9+/-30.5	0,7,2196	140	119	126		2447,2447,2132	1.3	1	6	dbSNP_132	126	93,8507	51.9+/-112.3	1,91,4208	yes	missense,missense,missense	SLC26A8	NM_001193476.1,NM_052961.3,NM_138718.2	43,43,43	1,98,6404	TT,TC,CC		1.0814,0.1589,0.7689	benign,benign,benign	816/971,816/971,711/866	35918965	100,12906	2203	4300	6503	SO:0001583	missense	116369			AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"Solute carriers"	14468	protein-coding gene	gene with protein product		608480	"solute carrier family 26, member 8"			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.2447G>A	6.37:g.35918965C>T	ENSP00000417638:p.Arg816Gln			Missense_Mutation	SNP	ENST00000490799.1	37	CCDS4813.1	4	0.0018315018315018315	0	0.0	2	0.0055248618784530384	0	0.0	2	0.002638522427440633	C	4.362	0.066653	0.08388	0.001589	0.010814	ENSG00000112053	ENST00000490799;ENST00000394602;ENST00000355574	D;D;D	0.94457	-3.13;-3.43;-3.13	5.42	1.33	0.21861	.	0.337736	0.25810	N	0.028143	T	0.56688	0.2002	N	0.01048	-1.04	0.26909	N	0.966934	B;B;B	0.12013	0.003;0.005;0.005	B;B;B	0.06405	0.001;0.001;0.002	T	0.62248	-0.6894	10	0.02654	T	1	.	7.521	0.27629	0.0:0.2612:0.0:0.7388	.	816;711;398	Q96RN1;Q96RN1-2;Q96RN1-3	S26A8_HUMAN;.;.	Q	816;711;816	ENSP00000417638:R816Q;ENSP00000378100:R711Q;ENSP00000347778:R816Q	ENSP00000347778:R816Q	R	-	2	0	SLC26A8	36026943	0.997000	0.39634	0.999000	0.59377	0.902000	0.53008	0.352000	0.20113	0.084000	0.17077	-0.290000	0.09829	CGG		0.542	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2			T	35918965	C	T	35918965	3	4	755	1	0	0	0	0	1	0	0	0	14529	652	23	1	473	1	SLC26A8	6	35918965	Missense_Mutation	SNP	C	TCGA-KO-8415-01A-11D-2310-10	5237015	35918965	135196102	19	44459											
TREML1	340205	broad.mit.edu	37	6	41121543	41121543	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr6:41121543C>T	ENST00000426005.2	-	2	372	c.329G>A	c.(328-330)aGg>aAg	p.R110K	TREML1_ENST00000437044.2_Intron|TREML1_ENST00000373127.4_Missense_Mutation_p.R110K	NM_178174.2	NP_835468.1	Q86YW5	TRML1_HUMAN	triggering receptor expressed on myeloid cells-like 1	110	Ig-like V-type.				calcium-mediated signaling (GO:0019722)|innate immune response (GO:0045087)|platelet activation (GO:0030168)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)		p.R110K(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					CTGGGGCCCCCTGGCCCCATC	0.602																																																1	Substitution - Missense(1)	ovary(1)											46	53	51					6																	41121543		2203	4300	6503	SO:0001583	missense	340205			AF534822	CCDS4851.1, CCDS64420.1, CCDS64421.1	6p21.1	2013-01-11			ENSG00000161911	ENSG00000161911		"Immunoglobulin superfamily / V-set domain containing"	20434	protein-coding gene	gene with protein product	"TREM-like transcript 1"	609714				12393607, 12645956	Standard	NM_178174		Approved	TLT1, dJ238O23.3	uc011duc.3	Q86YW5	OTTHUMG00000016231	ENST00000426005.2:c.329G>A	6.37:g.41121543C>T	ENSP00000402855:p.Arg110Lys		Q496B3|Q8IWY1|Q8IWY2	Missense_Mutation	SNP	ENST00000426005.2	37	CCDS4851.1	.	.	.	.	.	.	.	.	.	.	C	1.289	-0.608158	0.03717	.	.	ENSG00000161911	ENST00000373127;ENST00000426005	T;T	0.21932	1.98;1.98	6.08	-2.33	0.06724	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	2.389720	0.01192	N	0.007343	T	0.01627	0.0052	N	0.08118	0	0.18873	N	0.999988	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.14755	-1.0461	10	0.05525	T	0.97	.	0.6503	0.00825	0.2664:0.1127:0.2842:0.3367	.	110;110	Q86YW5;Q86YW5-2	TRML1_HUMAN;.	K	110	ENSP00000362219:R110K;ENSP00000402855:R110K	ENSP00000362219:R110K	R	-	2	0	TREML1	41229521	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.513000	0.06305	-0.872000	0.04037	-2.175000	0.00321	AGG		0.602	TREML1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043538.2	NM_178174		T	41121543	C	T	41121543	3	4	755	1	0	0	0	0	1	0	0	0	16477	681	24	2	624	2	TREML1	6	41121543	Missense_Mutation	SNP	C	TCGA-KO-8415-01A-11D-2310-10	5202578	41121543	129993524	20	44460											
C6orf150	115004	mdanderson.org	37	6	74161503	74161503	+	Silent	SNP	A	A	G	rs9446904	byFrequency	TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr6:74161503A>G	ENST00000370315.3	-	1	496	c.402T>C	c.(400-402)ccT>ccC	p.P134P	MB21D1_ENST00000370318.1_Silent_p.P134P	NM_138441.2	NP_612450.2	Q8N884	CGAS_HUMAN	Mab-21 domain containing 1	134					activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|cyclic nucleotide biosynthetic process (GO:0009190)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of type I interferon production (GO:0032481)	cytosol (GO:0005829)	ATP binding (GO:0005524)|cyclic-GMP-AMP synthase activity (GO:0061501)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|lung(1)	6						GCCCGGGCGGAGGTCTTGGCT	0.751													G|||	4499	0.898363	0.8949	0.8674	5008	,	,		11256	0.9484		0.8579	False		,,,				2504	0.9151															0								G		3318,426		1470,378,24	4	5	4		402	-3	0	6	dbSNP_119	4	6360,1026		2732,896,65	no	coding-synonymous	MB21D1	NM_138441.2		4202,1274,89	GG,GA,AA		13.8911,11.3782,13.0458		134/523	74161503	9678,1452	1872	3693	5565	SO:0001819	synonymous_variant	115004			BC012928	CCDS4978.1	6q13	2011-02-23	2011-02-23	2011-02-23	ENSG00000164430	ENSG00000164430			21367	protein-coding gene	gene with protein product		613973	"chromosome 6 open reading frame 150"	C6orf150			Standard	NM_138441		Approved		uc003pgx.1	Q8N884	OTTHUMG00000015034	ENST00000370315.3:c.402T>C	6.37:g.74161503A>G			L0L2J9|Q14CV6|Q32NC9|Q5SWL0|Q5SWL1|Q96E45	Silent	SNP	ENST00000370315.3	37	CCDS4978.1																																																																																				0.751	MB21D1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041221.5	NM_138441		G	74161503	A	G	74161503	2	3	755	1	0	0	0	0	0	0	0	1	2339	291	11	3		3	C6orf150	6	74161503	Silent	SNP	A	TCGA-KO-8415-01A-11D-2310-10	33039960	74161503	96953564	21	44461											
RSPH10B	222967	mdanderson.org	37	7	5983092	5983092	+	Missense_Mutation	SNP	G	G	A	rs201187545		TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr7:5983092G>A	ENST00000405415.1	-	14	2007	c.1621C>T	c.(1621-1623)Cgt>Tgt	p.R541C	RSPH10B_ENST00000404406.1_Missense_Mutation_p.R541C|RSPH10B_ENST00000337579.3_Missense_Mutation_p.R541C|RSPH10B_ENST00000535104.1_5'UTR|RSPH10B_ENST00000441023.2_Missense_Mutation_p.R541C|RSPH10B_ENST00000539903.1_Missense_Mutation_p.P280L			P0C881	R10B1_HUMAN	radial spoke head 10 homolog B (Chlamydomonas)	541										breast(1)|kidney(1)|lung(4)|ovary(1)|skin(4)	11		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0974)		TGTTGCTCACGGAATAAATTG	0.388																																																0													28	28	28					7																	5983092		2142	4274	6416	SO:0001583	missense	728194				CCDS34598.1	7p22.2	2008-07-04			ENSG00000155026	ENSG00000155026			27362	protein-coding gene	gene with protein product						16507594	Standard	NM_173565		Approved		uc003sph.1	P0C881	OTTHUMG00000152378	ENST00000405415.1:c.1621C>T	7.37:g.5983092G>A	ENSP00000385443:p.Arg541Cys		A6NMW7|Q86ST9|Q8NE68	Missense_Mutation	SNP	ENST00000405415.1	37	CCDS34598.1	10|10	0.004578754578754579|0.004578754578754579	4|4	0.008130081300813009|0.008130081300813009	0|0	0.0|0.0	0|0	0.0|0.0	6|6	0.0079155672823219|0.0079155672823219	G|G	10.49|10.49	1.366017|1.366017	0.24684|0.24684	.|.	.|.	ENSG00000155026|ENSG00000155026	ENST00000539903|ENST00000405415;ENST00000404406;ENST00000337579;ENST00000354951;ENST00000441023	T|T;T;T;T	0.62639|0.51817	0.01|0.69;0.69;0.69;0.69	3.38|3.38	-4.94|-4.94	0.03057|0.03057	.|.	.|1.615010	.|0.03267	.|N	.|0.184174	T|T	0.10380|0.10380	0.0254|0.0254	N|N	0.00436|0.00436	-1.5|-1.5	0.31735|0.31735	N|N	0.636584|0.636584	.|B;B;B	.|0.12630	.|0.006;0.0;0.0	.|B;B;B	.|0.04013	.|0.001;0.0;0.0	T|T	0.13469|0.13469	-1.0508|-1.0508	7|10	0.87932|0.37606	D|T	0|0.19	.|.	6.042|6.042	0.19740|0.19740	0.5682:0.0:0.26:0.1718|0.5682:0.0:0.26:0.1718	.|.	.|242;541;400	.|B7Z298;P0C881;F5GXE3	.|.;R10B1_HUMAN;.	L|C	280|541;541;541;400;541	ENSP00000445203:P280L|ENSP00000385443:R541C;ENSP00000384097:R541C;ENSP00000338556:R541C;ENSP00000400988:R541C	ENSP00000440914:P323L|ENSP00000338556:R541C	P|R	-|-	2|1	0|0	RSPH10B|RSPH10B	5949618|5949618	0.026000|0.026000	0.19158|0.19158	0.142000|0.142000	0.22268|0.22268	0.069000|0.069000	0.16628|0.16628	-0.149000|-0.149000	0.10204|0.10204	-0.612000|-0.612000	0.05701|0.05701	-1.143000|-1.143000	0.01870|0.01870	CCG|CGT		0.388	RSPH10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325465.2	NM_173565		A	5983092	G	A	5983092	3	1	755	1	0	0	0	0	1	0	0	0	13709	1116	39	1	1019	1	RSPH10B	7	5983092	Missense_Mutation	SNP	G	TCGA-KO-8415-01A-11D-2310-10		5983092	153155571	22	44462											
SP8	221833	mdanderson.org	37	7	20824614	20824614	+	Silent	SNP	C	C	T	rs34908430	byFrequency	TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr7:20824614C>T	ENST00000361443.4	-	3	1005	c.768G>A	c.(766-768)tcG>tcA	p.S256S	SP8_ENST00000418710.2_Silent_p.S274S	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor	256					dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|proximal/distal pattern formation (GO:0009954)|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)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						GACTCAGGCCCGAGTAATCCG	0.706													c|||	1351	0.269768	0.0635	0.379	5008	,	,		12232	0.3958		0.2893	False		,,,				2504	0.3211															0								C	,	317,3303		22,273,1515	5	6	5		822,768	-5.1	1	7	dbSNP_126	5	1820,5582		247,1326,2128	no	coding-synonymous,coding-synonymous	SP8	NM_182700.4,NM_198956.2	,	269,1599,3643	TT,TC,CC		24.5879,8.7569,19.3885	,	274/509,256/491	20824614	2137,8885	1810	3701	5511	SO:0001819	synonymous_variant	221833				CCDS5372.1, CCDS43555.1	7p21.2	2013-01-08			ENSG00000164651	ENSG00000164651		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	19196	protein-coding gene	gene with protein product		608306					Standard	NM_182700		Approved		uc003suz.3	Q8IXZ3	OTTHUMG00000094788	ENST00000361443.4:c.768G>A	7.37:g.20824614C>T			Q7Z615|Q7Z616|Q96MJ1	Silent	SNP	ENST00000361443.4	37	CCDS5372.1																																																																																				0.706	SP8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326904.2			T	20824614	C	T	20824614	2	4	755	1	0	0	0	0	0	0	0	1	14976	639	23	1		1	SP8	7	20824614	Silent	SNP	C	TCGA-KO-8415-01A-11D-2310-10	14841522	20824614	138314049	23	44463											
FKBP9	11328	mdanderson.org	37	7	33044951	33044951	+	Missense_Mutation	SNP	C	C	G			TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr7:33044951C>G	ENST00000242209.4	+	10	1870	c.1701C>G	c.(1699-1701)caC>caG	p.H567Q	AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000490776.2_Missense_Mutation_p.H335Q|FKBP9_ENST00000538336.1_Missense_Mutation_p.H620Q|FKBP9_ENST00000538443.1_Missense_Mutation_p.H429Q	NM_001284343.1|NM_007270.3	NP_001271272.1|NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	567	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				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)			AAGCCAAACACGATGAACTCT	0.517																																																0													152	109	124					7																	33044951		2203	4300	6503	SO:0001583	missense	11328			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.1701C>G	7.37:g.33044951C>G	ENSP00000242209:p.His567Gln		B3KY35|B7Z1G9|B7Z6H3|Q2M2A1|Q3MIR7|Q6IN76|Q6P2N1|Q96EX5|Q96IJ9	Missense_Mutation	SNP	ENST00000242209.4	37	CCDS5439.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.365781	0.61513	.	.	ENSG00000122642	ENST00000242209;ENST00000538336;ENST00000538443;ENST00000490776	T;T;T;T	0.58060	0.36;0.38;0.4;0.36	5.07	-3.51	0.04696	.	.	.	.	.	T	0.69806	0.3152	.	.	.	0.58432	D	0.999995	D;D;P	0.89917	0.999;1.0;0.86	D;D;B	0.87578	0.993;0.998;0.401	T	0.71185	-0.4667	8	0.72032	D	0.01	-9.9572	14.0577	0.64779	0.0:0.4114:0.0:0.5886	.	335;620;567	B7Z1G9;B7Z6H3;O95302	.;.;FKBP9_HUMAN	Q	567;620;429;335	ENSP00000242209:H567Q;ENSP00000439250:H620Q;ENSP00000437504:H429Q;ENSP00000441317:H335Q	ENSP00000242209:H567Q	H	+	3	2	FKBP9	33011476	0.024000	0.19004	0.835000	0.33067	0.918000	0.54935	-0.859000	0.04277	-1.301000	0.02338	-0.266000	0.10368	CAC		0.517	FKBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215137.1	NM_007270		G	33044951	C	G	33044951	3	3	755	1	0	0	0	0	1	0	0	0	5917	535	19	4	1739	4	FKBP9	7	33044951	Missense_Mutation	SNP	C	TCGA-KO-8415-01A-11D-2310-10	12220337	33044951	126093712	24	44464											
CHCHD2	51142	broad.mit.edu	37	7	56172050	56172050	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr7:56172050C>T	ENST00000395422.3	-	2	331	c.169G>A	c.(169-171)Gcc>Acc	p.A57T		NM_016139.2	NP_057223.1	Q9Y6H1	CHCH2_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 2	57						mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|lung(3)	5	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GCCATCTGGGCCATCAGACCT	0.647																																																0													20	21	21					7																	56172050		2198	4289	6487	SO:0001583	missense	51142			AF078845	CCDS5526.1	7p11.2	2014-07-14	2004-01-19	2004-01-21	ENSG00000106153	ENSG00000106153		"Coiled-coil-helix-coiled-coil-helix domain containing"	21645	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 17"	C7orf17		23303788	Standard	NM_016139		Approved		uc003tsa.3	Q9Y6H1	OTTHUMG00000129429	ENST00000395422.3:c.169G>A	7.37:g.56172050C>T	ENSP00000378812:p.Ala57Thr		Q498C3|Q6NZ50	Missense_Mutation	SNP	ENST00000395422.3	37	CCDS5526.1	.	.	.	.	.	.	.	.	.	.	C	34	5.298530	0.95574	.	.	ENSG00000106153	ENST00000395422	T	0.48522	0.81	5.62	4.74	0.60224	.	0.051128	0.85682	D	0.000000	T	0.74168	0.3681	M	0.92970	3.365	0.80722	D	1	D	0.71674	0.998	D	0.65987	0.94	T	0.81656	-0.0834	10	0.66056	D	0.02	.	15.123	0.72460	0.1425:0.8575:0.0:0.0	.	57	Q9Y6H1	CHCH2_HUMAN	T	57	ENSP00000378812:A57T	ENSP00000378812:A57T	A	-	1	0	CHCHD2	56139544	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.926000	0.70070	1.378000	0.46305	-0.152000	0.13540	GCC		0.647	CHCHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251589.1	NM_016139		T	56172050	C	T	56172050	3	4	755	1	0	0	0	0	1	0	0	0	3318	739	26	2	298	2	CHCHD2	7	56172050	Missense_Mutation	SNP	C	TCGA-KO-8415-01A-11D-2310-10	23127099	56172050	102966613	25	44465											
DYNC1I1	1780	ucsc.edu;mdanderson.org;bcgsc.ca	37	7	95668630	95668630	+	Missense_Mutation	SNP	C	C	A			TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr7:95668630C>A	ENST00000324972.6	+	14	1650	c.1457C>A	c.(1456-1458)cCa>cAa	p.P486Q	DYNC1I1_ENST00000437599.1_Missense_Mutation_p.P466Q|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.P449Q|DYNC1I1_ENST00000497626.1_3'UTR|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.P469Q|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.P469Q|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.P449Q	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	486					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)			CACCAAGGGCCAGTGACAGGA	0.478																																																0													151	142	145					7																	95668630		2203	4300	6503	SO:0001583	missense	1780			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.1457C>A	7.37:g.95668630C>A	ENSP00000320130:p.Pro486Gln		B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Missense_Mutation	SNP	ENST00000324972.6	37	CCDS5644.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.622230	0.87460	.	.	ENSG00000158560	ENST00000447467;ENST00000324972;ENST00000537881;ENST00000437599;ENST00000359388;ENST00000457059	T;T;T;T;T;T	0.61742	0.08;0.08;0.08;0.08;0.08;0.08	4.94	4.94	0.65067	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.78291	0.4260	M	0.82132	2.575	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;0.998;0.998;0.998;0.993	T	0.81095	-0.1088	10	0.87932	D	0	-20.6976	18.7491	0.91806	0.0:1.0:0.0:0.0	.	469;466;469;486;449	Q7Z6M0;G5E9K1;O14576-2;O14576;O14576-3	.;.;.;DC1I1_HUMAN;.	Q	469;486;449;466;449;469	ENSP00000392337:P469Q;ENSP00000320130:P486Q;ENSP00000438377:P449Q;ENSP00000398118:P466Q;ENSP00000352348:P449Q;ENSP00000412444:P469Q	ENSP00000320130:P486Q	P	+	2	0	DYNC1I1	95506566	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.651000	0.83577	2.753000	0.94483	0.557000	0.71058	CCA		0.478	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	NM_004411		A	95668630	C	A	95668630	3	1	755	1	0	0	0	0	1	0	0	0	4844	594	21	4	1507	4	DYNC1I1	7	95668630	Missense_Mutation	SNP	C	TCGA-KO-8415-01A-11D-2310-10	39496580	95668630	63470033	26	44466											
CSMD1	64478	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	8	3263582	3263582	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr8:3263582C>T	ENST00000520002.1	-	16	2791	c.2236G>A	c.(2236-2238)Gtg>Atg	p.V746M	CSMD1_ENST00000537824.1_Missense_Mutation_p.V745M|CSMD1_ENST00000602723.1_Missense_Mutation_p.V746M|CSMD1_ENST00000400186.3_Missense_Mutation_p.V746M|CSMD1_ENST00000542608.1_Missense_Mutation_p.V745M|CSMD1_ENST00000539096.1_Missense_Mutation_p.V745M|CSMD1_ENST00000602557.1_Missense_Mutation_p.V746M			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	746	Sushi 4. {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)		CTCCAGACCACGTTCCCGTCT	0.552																																																0													58	60	59					8																	3263582		1985	4175	6160	SO:0001583	missense	64478					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.2236G>A	8.37:g.3263582C>T	ENSP00000430733:p.Val746Met		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.1|27.1	4.803832|4.803832	0.90623|0.90623	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	.|T;T;T;T;T	.|0.64803	.|-0.12;-0.12;-0.12;-0.12;-0.12	5.36|5.36	5.36|5.36	0.76844|0.76844	.|Complement control module (2);Sushi/SCR/CCP (3);	.|0.000000	.|0.64402	.|D	.|0.000003	T|T	0.78000|0.78000	0.4215|0.4215	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.998;0.999	T|T	0.77892|0.77892	-0.2418|-0.2418	5|10	.|0.49607	.|T	.|0.09	.|.	19.0906|19.0906	0.93225|0.93225	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|746;746	.|E5RIG2;Q96PZ7	.|.;CSMD1_HUMAN	H|M	225|746;746;608;745;745;745	.|ENSP00000383047:V746M;ENSP00000430733:V746M;ENSP00000441462:V745M;ENSP00000446243:V745M;ENSP00000441675:V745M	.|ENSP00000320445:V608M	R|V	-|-	2|1	0|0	CSMD1|CSMD1	3250989|3250989	1.000000|1.000000	0.71417|0.71417	0.921000|0.921000	0.36526|0.36526	0.856000|0.856000	0.48823|0.48823	7.618000|7.618000	0.83043|0.83043	2.486000|2.486000	0.83907|0.83907	0.591000|0.591000	0.81541|0.81541	CGT|GTG		0.552	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		T	3263582	C	T	3263582	3	4	755	1	0	0	0	0	1	0	0	0	3946	536	19	1	8685	1	CSMD1	8	3263582	Missense_Mutation	SNP	C	TCGA-KO-8415-01A-11D-2310-10		3263582	143100440	27	44467											
GPR124	25960	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	8	37688272	37688272	+	Missense_Mutation	SNP	C	C	T	rs144591273		TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr8:37688272C>T	ENST00000412232.2	+	7	776	c.763C>T	c.(763-765)Cgc>Tgc	p.R255C	GPR124_ENST00000315215.7_Missense_Mutation_p.R255C	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	255	Ig-like.				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)			CCCGTCCCTACGCCAAGTGGT	0.657																																																0								C	CYS/ARG	1,4399		0,1,2199	81	52	62		763	5.2	1	8	dbSNP_134	62	1,8597		0,1,4298	no	missense	GPR124	NM_032777.9	180	0,2,6497	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	255/1339	37688272	2,12996	2200	4299	6499	SO:0001583	missense	25960			AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17849	protein-coding gene	gene with protein product	"tumor endothelial marker 5"	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.763C>T	8.37:g.37688272C>T	ENSP00000406367:p.Arg255Cys		A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	ENST00000412232.2	37	CCDS6097.2	.	.	.	.	.	.	.	.	.	.	C	23.7	4.451640	0.84209	2.27E-4	1.16E-4	ENSG00000020181	ENST00000416514;ENST00000315215;ENST00000412232	T;T	0.60299	0.2;0.25	5.19	5.19	0.71726	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.135299	0.51477	D	0.000096	T	0.76111	0.3942	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.97	T	0.78553	-0.2160	10	0.66056	D	0.02	-37.0163	18.7204	0.91691	0.0:1.0:0.0:0.0	.	255;255	Q96PE1-2;Q96PE1	.;GP124_HUMAN	C	248;255;255	ENSP00000323508:R255C;ENSP00000406367:R255C	ENSP00000323508:R255C	R	+	1	0	GPR124	37807430	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	3.846000	0.55888	2.429000	0.82318	0.655000	0.94253	CGC		0.657	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			T	37688272	C	T	37688272	3	4	755	1	0	0	0	0	1	0	0	0	6640	536	19	1	768	1	GPR124	8	37688272	Missense_Mutation	SNP	C	TCGA-KO-8415-01A-11D-2310-10	34424690	37688272	108675750	28	44468											
TG	7038	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	8	134145788	134145788	+	Missense_Mutation	SNP	G	G	A	rs531167775		TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr8:134145788G>A	ENST00000220616.4	+	47	8112	c.8072G>A	c.(8071-8073)cGt>cAt	p.R2691H	TG_ENST00000542445.1_Missense_Mutation_p.R1061H|TG_ENST00000519543.1_Missense_Mutation_p.R824H|TG_ENST00000377869.1_Missense_Mutation_p.R2634H	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2691					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)		TTTGTACCCCGTGCTGGTGGA	0.502													G|||	1	0.000199681	0.0	0.0	5008	,	,		19855	0.0		0.0	False		,,,				2504	0.001															0													124	116	119					8																	134145788		2203	4300	6503	SO:0001583	missense	7038			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.8072G>A	8.37:g.134145788G>A	ENSP00000220616:p.Arg2691His		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.459928	0.00171	.	.	ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000535932;ENST00000542445;ENST00000519543;ENST00000521107	T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;1.0	4.84	-3.18	0.05186	Carboxylesterase, type B (1);	1.420510	0.04377	N	0.360115	T	0.37839	0.1018	N	0.04880	-0.145	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.06405	0.001;0.0;0.002	T	0.41251	-0.9519	10	0.02654	T	1	.	7.5366	0.27714	0.5152:0.1139:0.3709:0.0	.	824;1061;2691	E7EVM0;F5GWW5;P01266	.;.;THYG_HUMAN	H	2634;1497;2691;810;1061;824;95	ENSP00000367100:R2634H;ENSP00000220616:R2691H;ENSP00000441693:R1061H;ENSP00000430430:R824H;ENSP00000430161:R95H	ENSP00000220616:R2691H	R	+	2	0	TG	134214970	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.194000	0.09559	-0.692000	0.05128	-1.134000	0.01955	CGT		0.502	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		A	134145788	G	A	134145788	3	1	755	1	0	0	0	0	1	0	0	0	15818	1145	40	1	8258	1	TG	8	134145788	Missense_Mutation	SNP	G	TCGA-KO-8415-01A-11D-2310-10	96457516	134145788	12218234	29	44469											
PTK2	5747	hgsc.bcm.edu;bcgsc.ca	37	8	141856698	141856698	+	Splice_Site	SNP	C	C	T			TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr8:141856698C>T	ENST00000522684.1	-	6	759	c.530G>A	c.(529-531)cGg>cAg	p.R177Q	PTK2_ENST00000395218.2_Splice_Site_p.R177Q|PTK2_ENST00000340930.3_Splice_Site_p.R177Q|PTK2_ENST00000535192.1_Splice_Site_p.R177Q|PTK2_ENST00000519419.1_Splice_Site_p.R221Q|PTK2_ENST00000521059.1_Splice_Site_p.R177Q|PTK2_ENST00000517887.1_Splice_Site_p.R221Q	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	177	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				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)			ATCATCTTACCGTATTTCTAG	0.323																																																0													106	99	102					8																	141856698		2203	4300	6503	SO:0001630	splice_region_variant	5747			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.530+1G>A	8.37:g.141856698C>T			B4E2N6|F5H4S4|Q14291|Q9UD85	Missense_Mutation	SNP	ENST00000522684.1	37	CCDS6381.1	.	.	.	.	.	.	.	.	.	.	C	35	5.496021	0.96355	.	.	ENSG00000169398	ENST00000522684;ENST00000535192;ENST00000517887;ENST00000521059;ENST00000395214;ENST00000395218;ENST00000354438;ENST00000340930;ENST00000519419;ENST00000524357	T;T;T;T;T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;1.03	5.35	5.35	0.76521	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	0.85691	0.5755	M	0.82193	2.58	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;0.996;0.997;0.998	D	0.86495	0.1800	9	.	.	.	.	18.6889	0.91576	0.0:1.0:0.0:0.0	.	177;84;177;199;177;88	B4E2N6;Q59GN8;Q05397;Q658W2;Q8IYN9;Q59GM6	.;.;FAK1_HUMAN;.;.;.	Q	177;177;221;177;87;177;84;177;221;92	ENSP00000429911:R177Q;ENSP00000438009:R177Q;ENSP00000429082:R221Q;ENSP00000429474:R177Q;ENSP00000378644:R177Q;ENSP00000341189:R177Q;ENSP00000429129:R221Q;ENSP00000429001:R92Q	.	R	-	2	0	PTK2	141925880	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	6.631000	0.74277	2.504000	0.84457	0.484000	0.47621	CGG;CGG;CGG;CGG;CGG;CGG;CGG;CGG;CGG;CGA		0.323	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378054.5	NM_005607	Missense_Mutation	T	141856698	C	T	141856698	5	4	755	1	0	0	0	0	0	0	1	0	12768	666	23	1	2736	1	PTK2	8	141856698	Splice_Site	SNP	C	TCGA-KO-8415-01A-11D-2310-10	7710910	141856698	4507324	30	44470											
PLEC	5339	mdanderson.org	37	8	144996263	144996263	+	Silent	SNP	G	G	A	rs11988293	byFrequency	TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr8:144996263G>A	ENST00000322810.4	-	32	8306	c.8137C>T	c.(8137-8139)Ctg>Ttg	p.L2713L	PLEC_ENST00000356346.3_Silent_p.L2562L|PLEC_ENST00000345136.3_Silent_p.L2576L|PLEC_ENST00000354589.3_Silent_p.L2576L|PLEC_ENST00000354958.2_Silent_p.L2554L|PLEC_ENST00000398774.2_Silent_p.L2544L|PLEC_ENST00000357649.2_Silent_p.L2580L|PLEC_ENST00000527096.1_Silent_p.L2599L|PLEC_ENST00000436759.2_Silent_p.L2603L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2713	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						tgctgctccagctgctgcagc	0.721													G|||	268	0.0535144	0.1952	0.013	5008	,	,		15052	0.0		0.001	False		,,,				2504	0.0															0								G	,,,,,,,	677,3429		38,601,1414	5	6	5		7807,7684,7660,8137,7630,7726,7738,7726	3.2	0.7	8	dbSNP_120	5	6,7986		0,6,3990	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	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	,,,,,,,	38,607,5404	AA,AG,GG		0.0751,16.4881,5.6456	,,,,,,,	2603/4575,2562/4534,2554/4526,2713/4685,2544/4516,2576/4548,2580/4552,2576/4548	144996263	683,11415	2053	3996	6049	SO:0001819	synonymous_variant	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.8137C>T	8.37:g.144996263G>A			Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																				0.721	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		A	144996263	G	A	144996263	2	1	755	1	0	0	0	0	0	0	0	1	12054	962	34	2		2	PLEC	8	144996263	Silent	SNP	G	TCGA-KO-8415-01A-11D-2310-10	3139565	144996263	1367759	31	44471											
GLIS3	169792	mdanderson.org	37	9	4118111	4118111	+	Missense_Mutation	SNP	G	G	T	rs6415788	byFrequency	TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr9:4118111G>T	ENST00000324333.10	-	3	1095	c.902C>A	c.(901-903)cCa>cAa	p.P301Q	GLIS3_ENST00000381971.3_Missense_Mutation_p.P456Q	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	301	Pro-rich.		P -> Q (in dbSNP:rs6415788). {ECO:0000269|PubMed:15489334}.		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)		tggggggcctgggggcggcgg	0.731													T|||	3386	0.676118	0.6006	0.7622	5008	,	,		9673	0.874		0.6302	False		,,,				2504	0.5603															0								T	GLN/PRO,GLN/PRO	2499,1143		894,711,216	8	11	10		1367,902	5.4	1	9	dbSNP_116	10	4958,2542		1716,1526,508	yes	missense,missense	GLIS3	NM_001042413.1,NM_152629.3	76,76	2610,2237,724	TT,TG,GG		33.8933,31.3839,33.0731	benign,benign	456/931,301/776	4118111	7457,3685	1821	3750	5571	SO:0001583	missense	169792			BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"Zinc fingers, C2H2-type"	28510	protein-coding gene	gene with protein product		610192	"zinc finger protein 515"	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.902C>A	9.37:g.4118111G>T	ENSP00000325494:p.Pro301Gln		B1AL19|Q1PHK5	Missense_Mutation	SNP	ENST00000324333.10	37	CCDS6451.1	1503	0.6881868131868132	289	0.5873983739837398	261	0.7209944751381215	500	0.8741258741258742	453	0.5976253298153035	T	1.187	-0.636435	0.03557	0.686161	0.661067	ENSG00000107249	ENST00000324333;ENST00000381971	T;T	0.10192	2.92;2.9	5.37	5.37	0.77165	.	0.000000	0.47852	N	0.000210	T	0.00012	0.0000	N	0.01048	-1.04	0.42193	P	0.008264000000000049	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34576	-0.9823	9	0.02654	T	1	.	12.6151	0.56571	0.0:0.0:0.1388:0.8612	rs6415788;rs13294473;rs59237658;rs6415788	456;301	Q8NEA6-2;Q8NEA6	.;GLIS3_HUMAN	Q	301;456	ENSP00000325494:P301Q;ENSP00000371398:P456Q	ENSP00000325494:P301Q	P	-	2	0	GLIS3	4108111	1.000000	0.71417	0.971000	0.41717	0.160000	0.22226	4.123000	0.57917	0.872000	0.35775	-0.256000	0.11100	CCA		0.731	GLIS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051559.1	NM_152629		T	4118111	G	T	4118111	3	4	755	1	0	0	0	0	1	0	0	0	6449	1348	47	4	1457	4	GLIS3	9	4118111	Missense_Mutation	SNP	G	TCGA-KO-8415-01A-11D-2310-10		4118111	137095320	32	44472											
LAMC3	10319	mdanderson.org	37	9	133884820	133884820	+	Missense_Mutation	SNP	T	T	G	rs3739512	byFrequency	TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr9:133884820T>G	ENST00000361069.4	+	1	352	c.219T>G	c.(217-219)caT>caG	p.H73Q	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	73	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)		cgggggcTCATTGCCAGCGCT	0.731													G|||	3285	0.65595	0.8011	0.5504	5008	,	,		9081	0.8611		0.4533	False		,,,				2504	0.5317															0								G	GLN/HIS	2801,873		1125,551,161	6	5	6		219	3	0.6	9	dbSNP_107	6	3292,3800		842,1608,1096	no	missense	LAMC3	NM_006059.3	24	1967,2159,1257	GG,GT,TT		46.4185,23.7616,43.4052	benign	73/1576	133884820	6093,4673	1837	3546	5383	SO:0001583	missense	10319			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.219T>G	9.37:g.133884820T>G	ENSP00000354360:p.His73Gln		B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	ENST00000361069.4	37	CCDS6938.1	1392	0.6373626373626373	369	0.75	198	0.5469613259668509	486	0.8496503496503497	339	0.4472295514511873	G	4.105	0.017662	0.07959	0.762384	0.464185	ENSG00000050555	ENST00000361069;ENST00000355048;ENST00000320021	T	0.73681	-0.77	3.94	3.0	0.34707	Laminin, N-terminal (3);	0.518974	0.20363	N	0.093816	T	0.00012	0.0000	N	0.00224	-1.81	0.49798	P	1.7699999999998273E-4	B	0.02656	0.0	B	0.01281	0.0	T	0.39761	-0.9598	9	0.18710	T	0.47	.	8.2046	0.31446	0.0:0.327:0.5045:0.1685	rs3739512	73	Q9Y6N6	LAMC3_HUMAN	Q	73	ENSP00000354360:H73Q	ENSP00000325873:H73Q	H	+	3	2	LAMC3	132874641	1.000000	0.71417	0.637000	0.29366	0.294000	0.27393	1.591000	0.36665	0.126000	0.18424	-0.648000	0.03929	CAT		0.731	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		G	133884820	T	G	133884820	3	3	755	1	0	0	0	0	1	0	0	0	8618	1490	52	5	221	5	LAMC3	9	133884820	Missense_Mutation	SNP	T	TCGA-KO-8415-01A-11D-2310-10	129766709	133884820	7328611	33	44473											
PTEN	5728	hgsc.bcm.edu	37	10	89720712	89720712	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr10:89720712delA	ENST00000371953.3	+	8	2220	c.863delA	c.(862-864)gaafs	p.E288fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	288	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.E288fs*3(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.S287fs*8(1)|p.W274_F341del(1)|p.S287fs*1(1)|p.E288fs*9(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)		GAAACCTCAGAAAAAGTAGAA	0.313		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	phosphatase and tensin homolog gene		"L, E, M, O"	58	Whole gene deletion(37)|Deletion - Frameshift(17)|Deletion - In frame(2)|Unknown(2)	prostate(16)|central_nervous_system(12)|endometrium(7)|skin(6)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|urinary_tract(2)|large_intestine(1)|soft_tissue(1)											57	60	59					10																	89720712		2202	4296	6498	SO:0001589	frameshift_variant	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.863delA	10.37:g.89720712delA	ENSP00000361021:p.Glu288fs		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL	ENST00000371953.3	37	CCDS31238.1																																																																																				0.313	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		-	89720712	A	-	89720712	7	5	755	1	0	1	0	1	0	0	0	0	12743	246	9	0	893	0	PTEN	10	89720712	Frame_Shift_Del	DEL	A	TCGA-KO-8415-01A-11D-2310-10		89720712	45814035	34	44474	463	2									
PTEN	5728	bcgsc.ca	37	10	89720713	89720713	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr10:89720713delA	ENST00000371953.3	+	8	2221	c.864delA	c.(862-864)gaafs	p.E288fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	288	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.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.E288fs*8(1)|p.S287fs*8(1)|p.W274_F341del(1)|p.S287fs*1(1)|p.E288fs*3(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)		AAACCTCAGAAAAAGTAGAAA	0.308		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	phosphatase and tensin homolog gene		"L, E, M, O"	54	Whole gene deletion(37)|Deletion - Frameshift(13)|Deletion - In frame(2)|Unknown(2)	prostate(16)|central_nervous_system(12)|skin(6)|endometrium(4)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(1)											57	61	60					10																	89720713		2202	4296	6498	SO:0001589	frameshift_variant	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.864delA	10.37:g.89720713delA	ENSP00000361021:p.Glu288fs		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL	ENST00000371953.3	37	CCDS31238.1																																																																																				0.308	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		-	89720713	A	-	89720713	7	5	755	1	0	1	0	1	0	0	0	0	12743	11	1	0	894	0	PTEN	10	89720713	Frame_Shift_Del	DEL	A	TCGA-KO-8415-01A-11D-2310-10	1	89720713	45814034	35	44475	463	2									
MUC6	4588	mdanderson.org	37	11	1017068	1017068	+	Silent	SNP	C	C	T	rs78992004		TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr11:1017068C>T	ENST00000421673.2	-	31	5783	c.5733G>A	c.(5731-5733)acG>acA	p.T1911T		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1911	Approximate repeats.|Thr-rich.				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)		AAGTTTTGGCCGTGCTAAATG	0.552																																																0																																										SO:0001819	synonymous_variant	4588			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.5733G>A	11.37:g.1017068C>T			O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	CCDS44513.1																																																																																				0.552	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		T	1017068	C	T	1017068	2	4	755	1	0	0	0	0	0	0	0	1	9982	639	23	1		1	MUC6	11	1017068	Silent	SNP	C	TCGA-KO-8415-01A-11D-2310-10		1017068	133989448	36	44476			2	123		3	3	878	N	T_C_A	2.497871e-06
MUC6	4588	mdanderson.org	37	11	1017744	1017744	+	Missense_Mutation	SNP	T	T	C	rs200243990		TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr11:1017744T>C	ENST00000421673.2	-	31	5107	c.5057A>G	c.(5056-5058)aAc>aGc	p.N1686S		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1686	Approximate repeats.|Thr-rich.				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)		TTTGGCTGTGTTTAATGAGCT	0.562																																																0													863	836	845					11																	1017744		2200	4296	6496	SO:0001583	missense	4588			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.5057A>G	11.37:g.1017744T>C	ENSP00000406861:p.Asn1686Ser		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.750323	0.00669	.	.	ENSG00000184956	ENST00000421673	T	0.14640	2.49	1.87	-2.04	0.07343	.	.	.	.	.	T	0.02012	0.0063	N	0.00152	-1.975	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38134	-0.9675	9	0.02654	T	1	.	6.3147	0.21184	0.0:0.2622:0.5902:0.1476	.	1686	Q6W4X9	MUC6_HUMAN	S	1686	ENSP00000406861:N1686S	ENSP00000406861:N1686S	N	-	2	0	MUC6	1007744	0.016000	0.18221	0.000000	0.03702	0.019000	0.09904	-0.366000	0.07563	-1.043000	0.03258	-0.886000	0.02939	AAC		0.562	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		C	1017744	T	C	1017744	3	2	755	1	0	0	0	0	1	0	0	0	9982	1725	60	3	2274	3	MUC6	11	1017744	Missense_Mutation	SNP	T	TCGA-KO-8415-01A-11D-2310-10	676	1017744	133988772	37	44477			2	123		3	3	878	N	T_C_A	2.497871e-06
MUC6	4588	mdanderson.org	37	11	1017945	1017945	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr11:1017945A>G	ENST00000421673.2	-	31	4906	c.4856T>C	c.(4855-4857)tTc>tCc	p.F1619S		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1619	Approximate repeats.|Pro-rich.|Thr-rich.				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)		AGAGGTGGAGAAAGGTGGAAC	0.542																																																0																																										SO:0001583	missense	4588			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.4856T>C	11.37:g.1017945A>G	ENSP00000406861:p.Phe1619Ser		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	A	0.026	-1.375208	0.01214	.	.	ENSG00000184956	ENST00000421673	T	0.19669	2.13	2.39	-1.65	0.08291	.	.	.	.	.	T	0.14227	0.0344	L	0.41710	1.295	0.09310	N	1	B	0.29341	0.242	B	0.35931	0.214	T	0.39860	-0.9593	9	0.06625	T	0.88	.	6.4604	0.21954	0.6729:0.0:0.3271:0.0	.	1619	Q6W4X9	MUC6_HUMAN	S	1619	ENSP00000406861:F1619S	ENSP00000406861:F1619S	F	-	2	0	MUC6	1007945	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.579000	0.05834	-0.502000	0.06596	-0.917000	0.02746	TTC		0.542	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		G	1017945	A	G	1017945	3	3	755	1	0	0	0	0	1	0	0	0	9982	246	9	3	2475	3	MUC6	11	1017945	Missense_Mutation	SNP	A	TCGA-KO-8415-01A-11D-2310-10	201	1017945	133988571	38	44478			2	123		3	3	878	N	T_C_A	2.497871e-06
MUC2	4583	mdanderson.org	37	11	1093311	1093311	+	Silent	SNP	C	C	A			TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr11:1093311C>A	ENST00000441003.2	+	30	5157	c.5130C>A	c.(5128-5130)acC>acA	p.T1710T	MUC2_ENST00000359061.5_Silent_p.T1677T|MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000361558.6_Intron	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				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)	tgaccccaaccccaacaccca	0.637																																																0													143	189	173					11																	1093311		1906	3557	5463	SO:0001819	synonymous_variant	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.5130C>A	11.37:g.1093311C>A			Q14878	Silent	SNP	ENST00000441003.2	37																																																																																					0.637	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		A	1093311	C	A	1093311	2	1	755	1	0	0	0	0	0	0	0	1	9977	610	22	4		4	MUC2	11	1093311	Silent	SNP	C	TCGA-KO-8415-01A-11D-2310-10	75366	1093311	133913205	39	44479											
ZNF215	7762	bcgsc.ca	37	11	6977554	6977554	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr11:6977554A>G	ENST00000278319.5	+	7	1934	c.1346A>G	c.(1345-1347)gAc>gGc	p.D449G	ZNF215_ENST00000414517.2_Missense_Mutation_p.D449G|ZNF215_ENST00000529903.1_Intron	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	449					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)		AAAAGTGAAGACAGTAATAAT	0.393																																																0													88	89	89					11																	6977554		2201	4296	6497	SO:0001583	missense	7762			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.1346A>G	11.37:g.6977554A>G	ENSP00000278319:p.Asp449Gly		Q96C84	Missense_Mutation	SNP	ENST00000278319.5	37	CCDS7775.1	.	.	.	.	.	.	.	.	.	.	A	0.179	-1.063752	0.01934	.	.	ENSG00000149054	ENST00000278319;ENST00000414517	T;T	0.06142	3.34;3.34	4.75	3.6	0.41247	.	0.322331	0.22564	N	0.058429	T	0.05181	0.0138	N	0.20881	0.62	0.46241	D	0.99894	P	0.46395	0.877	B	0.40636	0.335	T	0.42699	-0.9436	10	0.87932	D	0	-4.2538	9.1926	0.37209	0.8374:0.0:0.0:0.1626	.	449	Q9UL58	ZN215_HUMAN	G	449	ENSP00000278319:D449G;ENSP00000393202:D449G	ENSP00000278319:D449G	D	+	2	0	ZNF215	6934130	0.000000	0.05858	0.041000	0.18516	0.009000	0.06853	-1.036000	0.03560	0.922000	0.37019	0.477000	0.44152	GAC		0.393	ZNF215-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384550.1			G	6977554	A	G	6977554	3	3	755	1	0	0	0	0	1	0	0	0	17776	275	10	3	1364	3	ZNF215	11	6977554	Missense_Mutation	SNP	A	TCGA-KO-8415-01A-11D-2310-10	5884243	6977554	128028962	40	44480											
OR4X1	390113	hgsc.bcm.edu	37	11	48285986	48285986	+	Missense_Mutation	SNP	T	T	A	rs76457745		TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr11:48285986T>A	ENST00000320048.1	+	1	574	c.574T>A	c.(574-576)Ttc>Atc	p.F192I		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	192						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						AGACACCTTCTTCATTAGCCT	0.537																																																0													110	85	94					11																	48285986		2201	4298	6499	SO:0001583	missense	390113			AB065544	CCDS31487.1	11p11.2	2013-10-10	2013-10-10		ENSG00000176567	ENSG00000176567		"GPCR / Class A : Olfactory receptors"	14854	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily X, member 1"				Standard	NM_001004726		Approved		uc010rht.2	Q8NH49	OTTHUMG00000165301	ENST00000320048.1:c.574T>A	11.37:g.48285986T>A	ENSP00000321506:p.Phe192Ile		Q6IF74	Missense_Mutation	SNP	ENST00000320048.1	37	CCDS31487.1	.	.	.	.	.	.	.	.	.	.	T	4.614	0.114104	0.08831	.	.	ENSG00000176567	ENST00000320048	T	0.00030	8.9	4.4	2.51	0.30379	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00039	0.0001	N	0.01668	-0.77	0.22745	N	0.998789	B	0.25235	0.121	B	0.24394	0.053	T	0.00485	-1.1711	9	0.17369	T	0.5	.	3.9248	0.09259	0.1875:0.6133:0.0:0.1992	.	192	Q8NH49	OR4X1_HUMAN	I	192	ENSP00000321506:F192I	ENSP00000321506:F192I	F	+	1	0	OR4X1	48242562	0.000000	0.05858	0.999000	0.59377	0.059000	0.15707	-2.231000	0.01206	1.210000	0.43336	-0.318000	0.08688	TTC		0.537	OR4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383373.1	NM_001004726		A	48285986	T	A	48285986	3	1	755	1	0	0	0	0	1	0	0	0	11086	1609	56	5	576	5	OR4X1	11	48285986	Missense_Mutation	SNP	T	TCGA-KO-8415-01A-11D-2310-10	41308432	48285986	86720530	41	44481											
CDC42BPG	55561	mdanderson.org	37	11	64601933	64601933	+	Silent	SNP	T	T	C	rs7933683	byFrequency	TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr11:64601933T>C	ENST00000342711.5	-	19	2291	c.2292A>G	c.(2290-2292)acA>acG	p.T764T	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						CCTGCACCTGTGTCAGCCGCT	0.706													C|||	1376	0.27476	0.0424	0.2147	5008	,	,		15170	0.4921		0.2575	False		,,,				2504	0.4254															0								C		284,3850		12,260,1795	6	7	6		2292	-6.1	0.8	11	dbSNP_116	6	1681,6531		171,1339,2596	no	coding-synonymous	CDC42BPG	NM_017525.2		183,1599,4391	CC,CT,TT		20.47,6.8699,15.9161		764/1552	64601933	1965,10381	2067	4106	6173	SO:0001819	synonymous_variant	55561			AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"Pleckstrin homology (PH) domain containing"	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.2292A>G	11.37:g.64601933T>C				Silent	SNP	ENST00000342711.5	37	CCDS31601.1																																																																																				0.706	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516		C	64601933	T	C	64601933	2	2	755	1	0	0	0	0	0	0	0	1	3076	1683	59	3		3	CDC42BPG	11	64601933	Silent	SNP	T	TCGA-KO-8415-01A-11D-2310-10	16315947	64601933	70404583	42	44482											
SLC2A3	6515	mdanderson.org	37	12	8074168	8074168	+	Silent	SNP	A	A	G			TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr12:8074168A>G	ENST00000075120.7	-	10	1572	c.1332T>C	c.(1330-1332)gcT>gcC	p.A444A	SLC2A3_ENST00000543435.1_5'Flank	NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	444					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		AGAAGGTAAAAGCCAAGAAGG	0.448																																					Colon(96;424 1461 14416 20933 23688)											0													79	75	77					12																	8074168		2203	4300	6503	SO:0001819	synonymous_variant	6515			M20681	CCDS8586.1	12p13.3	2013-05-22			ENSG00000059804	ENSG00000059804		"Solute carriers"	11007	protein-coding gene	gene with protein product		138170		GLUT3			Standard	NM_006931		Approved		uc001qtr.3	P11169	OTTHUMG00000133685	ENST00000075120.7:c.1332T>C	12.37:g.8074168A>G			B2R606|D3DUU6|Q6I9U2|Q9UG15	Silent	SNP	ENST00000075120.7	37	CCDS8586.1																																																																																				0.448	SLC2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257914.1	NM_006931		G	8074168	A	G	8074168	2	3	755	1	0	0	0	0	0	0	0	1	14551	59	3	3		3	SLC2A3	12	8074168	Silent	SNP	A	TCGA-KO-8415-01A-11D-2310-10		8074168	125777727	43	44483											
TAS2R19	259294	mdanderson.org	37	12	11174327	11174327	+	Missense_Mutation	SNP	C	C	T	rs72475481	byFrequency	TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr12:11174327C>T	ENST00000390673.2	-	1	892	c.844G>A	c.(844-846)Gga>Aga	p.G282R	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN	taste receptor, type 2, member 19	282					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						TTCCTACTTCCCATAATCAGG	0.428																																																0													120	113	115					12																	11174327		2203	4300	6503	SO:0001583	missense	259294			AX097730, AF494234	CCDS8640.1	12p13.2	2012-08-22			ENSG00000212124	ENSG00000212124		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	19108	protein-coding gene	gene with protein product		613961	"taste receptor, type 2, member 48", "taste receptor, type 2, member 23"	TAS2R48, TAS2R23			Standard	NM_176888		Approved	T2R19, T2R23	uc010shj.2	P59542	OTTHUMG00000162687	ENST00000390673.2:c.844G>A	12.37:g.11174327C>T	ENSP00000375091:p.Gly282Arg		Q3MIJ4|Q645X8	Missense_Mutation	SNP	ENST00000390673.2	37	CCDS8640.1	966	0.4423076923076923	167	0.3394308943089431	168	0.46408839779005523	270	0.47202797202797203	361	0.4762532981530343	C	11.62	1.692440	0.30052	.	.	ENSG00000212124	ENST00000390673	T	0.32988	1.43	2.95	2.95	0.34219	.	0.303148	0.25189	U	0.032478	T	0.00012	0.0000	M	0.64676	1.99	0.09310	N	1	P	0.46912	0.886	P	0.46585	0.521	T	0.51521	-0.8695	10	0.52906	T	0.07	.	7.4146	0.27036	0.2594:0.7406:0.0:0.0	.	282	P59542	T2R19_HUMAN	R	282	ENSP00000375091:G282R	ENSP00000375091:G282R	G	-	1	0	TAS2R19	11065594	0.000000	0.05858	0.005000	0.12908	0.003000	0.03518	-0.166000	0.09954	1.662000	0.50781	0.405000	0.27470	GGA		0.428	TAS2R19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370080.1	NM_176888		T	11174327	C	T	11174327	3	4	755	1	0	0	0	0	1	0	0	0	15575	632	22	2	58	2	TAS2R19	12	11174327	Missense_Mutation	SNP	C	TCGA-KO-8415-01A-11D-2310-10	3100159	11174327	122677568	44	44484											
TAS2R31	259290	mdanderson.org	37	12	11183797	11183797	+	Silent	SNP	C	C	T			TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr12:11183797C>T	ENST00000390675.2	-	1	209	c.138G>A	c.(136-138)caG>caA	p.Q46Q	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	46					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						CAGTGAGAATCTGGTCAGCAA	0.378																																																0																																										SO:0001819	synonymous_variant	259290			AX097748, AF494228	CCDS53747.1	12p13.2	2012-08-22				ENSG00000256436		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	19113	protein-coding gene	gene with protein product		612669	"taste receptor, type 2, member 44"	TAS2R44			Standard	NM_176885		Approved	T2R31, T2R53	uc001qzo.1	P59538		ENST00000390675.2:c.138G>A	12.37:g.11183797C>T			P59547|Q17R84|Q645X5	Silent	SNP	ENST00000390675.2	37	CCDS53747.1																																																																																				0.378	TAS2R31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400233.1	NM_176885		T	11183797	C	T	11183797	2	4	755	1	0	0	0	0	0	0	0	1	15579	912	32	2		2	TAS2R31	12	11183797	Silent	SNP	C	TCGA-KO-8415-01A-11D-2310-10	9470	11183797	122668098	45	44485											
GRIN2B	2904	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	12	13828724	13828724	+	Silent	SNP	C	C	T	rs201952040		TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr12:13828724C>T	ENST00000609686.1	-	4	1289	c.1080G>A	c.(1078-1080)ccG>ccA	p.P360P		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	360					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)	TCACCAGTTTCGGGTGCATCT	0.373																																																0													127	124	125					12																	13828724		2203	4300	6503	SO:0001819	synonymous_variant	2904				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.1080G>A	12.37:g.13828724C>T			Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Silent	SNP	ENST00000609686.1	37	CCDS8662.1																																																																																				0.373	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			T	13828724	C	T	13828724	2	4	755	1	0	0	0	0	0	0	0	1	6782	871	31	1		1	GRIN2B	12	13828724	Silent	SNP	C	TCGA-KO-8415-01A-11D-2310-10	2644927	13828724	120023171	46	44486											
IPO8	10526	bcgsc.ca	37	12	30787155	30787155	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr12:30787155T>C	ENST00000256079.4	-	23	3099	c.2761A>G	c.(2761-2763)Aga>Gga	p.R921G	IPO8_ENST00000544829.1_Missense_Mutation_p.R716G	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	921					intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)			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)					TCTTCACCTCTTCCATTATTT	0.408																																																0													251	199	217					12																	30787155		2203	4300	6503	SO:0001583	missense	10526			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.2761A>G	12.37:g.30787155T>C	ENSP00000256079:p.Arg921Gly		B7Z7M3	Missense_Mutation	SNP	ENST00000256079.4	37	CCDS8719.1	.	.	.	.	.	.	.	.	.	.	T	7.327	0.618242	0.14129	.	.	ENSG00000133704	ENST00000256079;ENST00000545286;ENST00000544829	T;T	0.45276	1.91;0.9	5.1	-4.0	0.04057	Armadillo-type fold (1);	0.499991	0.22314	N	0.061686	T	0.13329	0.0323	N	0.02011	-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	0.25813	-1.0121	10	0.25106	T	0.35	-13.0789	9.4985	0.39004	0.0:0.1284:0.7165:0.1551	.	716;397;921	B7Z7M3;Q59F59;O15397	.;.;IPO8_HUMAN	G	921;397;716	ENSP00000256079:R921G;ENSP00000444520:R716G	ENSP00000256079:R921G	R	-	1	2	IPO8	30678422	0.015000	0.18098	0.004000	0.12327	0.330000	0.28571	1.089000	0.30890	-0.435000	0.07264	0.533000	0.62120	AGA		0.408	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402700.2	NM_006390		C	30787155	T	C	30787155	3	2	755	1	0	0	0	0	1	0	0	0	7800	1617	56	3	364	3	IPO8	12	30787155	Missense_Mutation	SNP	T	TCGA-KO-8415-01A-11D-2310-10	16958431	30787155	103064740	47	44487											
KRT5	3852	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	52913573	52913573	+	Missense_Mutation	SNP	C	C	T	rs59115483		TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr12:52913573C>T	ENST00000252242.4	-	1	898	c.508G>A	c.(508-510)Gag>Aag	p.E170K		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	170	Coil 1A.|Rod.		E -> K (in K-EBS; dbSNP:rs59115483). {ECO:0000269|PubMed:11973334}.		cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		TTGATCTGCTCGCGCTCCTCG	0.498																																																0			GRCh37	CM021625	KRT5	M	rs59115483						182	175	177					12																	52913573		2203	4300	6503	SO:0001583	missense	3852				CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"-", "Intermediate filaments type II, keratins (basic)"	6442	protein-coding gene	gene with protein product		148040	"epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types", "keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.508G>A	12.37:g.52913573C>T	ENSP00000252242:p.Glu170Lys		Q6PI71|Q6UBJ0|Q8TA91	Missense_Mutation	SNP	ENST00000252242.4	37	CCDS8830.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.522137	0.85600	.	.	ENSG00000186081	ENST00000252242;ENST00000456000;ENST00000549420;ENST00000551275	D;T;T	0.91631	-2.88;-1.12;-1.12	5.66	5.66	0.87406	Filament (1);	0.000000	0.64402	D	0.000019	D	0.96716	0.8928	M	0.89904	3.07	0.58432	A	0.999999	D	0.71674	0.998	D	0.64321	0.924	D	0.97086	0.9787	9	0.87932	D	0	.	19.7439	0.96243	0.0:1.0:0.0:0.0	rs59115483	170	P13647	K2C5_HUMAN	K	170;135;60;135	ENSP00000252242:E170K;ENSP00000447209:E60K;ENSP00000448041:E135K	ENSP00000252242:E170K	E	-	1	0	KRT5	51199840	1.000000	0.71417	0.963000	0.40424	0.292000	0.27327	7.818000	0.86416	2.669000	0.90835	0.655000	0.94253	GAG		0.498	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405312.1			T	52913573	C	T	52913573	3	4	755	1	0	0	0	0	1	0	0	0	8481	893	31	1	1300	1	KRT5	12	52913573	Missense_Mutation	SNP	C	TCGA-KO-8415-01A-11D-2310-10	22126418	52913573	80938322	48	44488											
KRT76	51350	broad.mit.edu	37	12	53169330	53169330	+	Silent	SNP	C	C	T			TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr12:53169330C>T	ENST00000332411.2	-	2	710	c.657G>A	c.(655-657)caG>caA	p.Q219Q		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	219	Linker 1.|Rod.				cytoskeleton organization (GO:0007010)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGGTCTGCTGCTGGAGCAGTT	0.557																																																0													111	113	112					12																	53169330		2203	4300	6503	SO:0001819	synonymous_variant	51350			M99063	CCDS8838.1	12q13.13	2013-06-25			ENSG00000185069	ENSG00000185069		"-", "Intermediate filaments type II, keratins (basic)"	24430	protein-coding gene	gene with protein product						1282112, 16831889	Standard	NM_015848		Approved	HUMCYT2A, KRT2B, KRT2P	uc001sax.3	Q01546	OTTHUMG00000169797	ENST00000332411.2:c.657G>A	12.37:g.53169330C>T			B4DRR3|Q7Z795	Silent	SNP	ENST00000332411.2	37	CCDS8838.1																																																																																				0.557	KRT76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405928.1	NM_015848		T	53169330	C	T	53169330	2	4	755	1	0	0	0	0	0	0	0	1	8491	796	28	2		2	KRT76	12	53169330	Silent	SNP	C	TCGA-KO-8415-01A-11D-2310-10	255757	53169330	80682565	49	44489											
DGKA	1606	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	56335069	56335069	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr12:56335069G>A	ENST00000331886.5	+	14	1589	c.1135G>A	c.(1135-1137)Gtc>Atc	p.V379I	DGKA_ENST00000551156.1_Missense_Mutation_p.V379I|DGKA_ENST00000394147.1_Missense_Mutation_p.V379I|DGKA_ENST00000549079.2_3'UTR	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																																																1	Substitution - Missense(1)	pancreas(1)											115	114	114					12																	56335069		2203	4300	6503	SO:0001583	missense	1606			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		O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Missense_Mutation	SNP	ENST00000331886.5	37	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			A	56335069	G	A	56335069	3	1	755	1	0	0	0	0	1	0	0	0	4467	1145	40	1	1185	1	DGKA	12	56335069	Missense_Mutation	SNP	G	TCGA-KO-8415-01A-11D-2310-10	3165739	56335069	77516826	50	44490											
OAS3	4940	mdanderson.org	37	12	113376452	113376452	+	Silent	SNP	C	C	T	rs1859329	byFrequency	TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr12:113376452C>T	ENST00000228928.7	+	1	296	c.117C>T	c.(115-117)gcC>gcT	p.A39A	RP1-71H24.1_ENST00000552784.1_RNA|OAS3_ENST00000551007.1_Silent_p.A39A|OAS3_ENST00000548514.1_Silent_p.A39A|OAS3_ENST00000546638.1_3'UTR	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	39	OAS domain 1.				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						TGGCCGCTGCCCTGAGGGAGC	0.701													C|||	3937	0.786142	0.9887	0.7738	5008	,	,		12918	0.748		0.6352	False		,,,				2504	0.7157															0								C		3337,247		1556,225,11	7	8	8		117	0.8	0	12	dbSNP_92	8	5199,2777		1738,1723,527	no	coding-synonymous	OAS3	NM_006187.2		3294,1948,538	TT,TC,CC		34.817,6.8917,26.1592		39/1088	113376452	8536,3024	1792	3988	5780	SO:0001819	synonymous_variant	4940			AF063613	CCDS44981.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111331			8088	protein-coding gene	gene with protein product		603351	"2'-5'-oligoadenylate synthetase 3 (100 kD)"			9790745	Standard	NM_006187		Approved		uc001tug.3	Q9Y6K5	OTTHUMG00000169795	ENST00000228928.7:c.117C>T	12.37:g.113376452C>T			Q2HJ14|Q9H3P5	Silent	SNP	ENST00000228928.7	37	CCDS44981.1																																																																																				0.701	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405920.1			T	113376452	C	T	113376452	2	4	755	1	0	0	0	0	0	0	0	1	10803	610	22	2		2	OAS3	12	113376452	Silent	SNP	C	TCGA-KO-8415-01A-11D-2310-10	57041383	113376452	20475443	51	44491											
ING1	3621	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	13	111367954	111367954	+	Missense_Mutation	SNP	A	A	T			TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr13:111367954A>T	ENST00000375774.3	+	1	626	c.164A>T	c.(163-165)aAc>aTc	p.N55I	ING1_ENST00000375775.3_Intron|ING1_ENST00000464141.1_Intron|CARS2_ENST00000535398.1_5'Flank|ING1_ENST00000333219.7_Intron|ING1_ENST00000338450.7_Intron	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	55					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell death (GO:0010941)	nucleus (GO:0005634)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GTTGATTTGAACGTCTTCGGG	0.602																																																0													109	104	105					13																	111367954		2203	4300	6503	SO:0001583	missense	3621				CCDS9515.1, CCDS9516.1, CCDS9517.1, CCDS9518.1	13q34	2013-01-28			ENSG00000153487	ENSG00000153487		"Zinc fingers, PHD-type"	6062	protein-coding gene	gene with protein product	"inhibitor of growth 1", "tumor suppressor ING1", "growth inhibitor ING1", "growth inhibitory protein ING1"	601566				8944021, 9186514	Standard	NM_198219		Approved	p33ING1, p33ING1b, p24ING1c, p33, p47, p47ING1a	uc001vri.3	Q9UK53	OTTHUMG00000017346	ENST00000375774.3:c.164A>T	13.37:g.111367954A>T	ENSP00000364929:p.Asn55Ile		O00532|O43658|Q53ZR3|Q5T9G8|Q5T9G9|Q5T9H0|Q5T9H1|Q9H007|Q9HD98|Q9HD99|Q9NS83|Q9P0U6|Q9UBC6|Q9UIJ1|Q9UIJ2|Q9UIJ3|Q9UIJ4|Q9UK52	Missense_Mutation	SNP	ENST00000375774.3	37	CCDS9517.1	.	.	.	.	.	.	.	.	.	.	A	14.79	2.639445	0.47153	.	.	ENSG00000153487	ENST00000375774	T	0.38077	1.16	4.32	4.32	0.51571	.	0.225560	0.42294	D	0.000738	T	0.29976	0.0750	N	0.19112	0.55	0.27004	N	0.964843	D	0.58268	0.982	P	0.49140	0.601	T	0.11743	-1.0575	10	0.87932	D	0	-12.9249	9.7925	0.40715	1.0:0.0:0.0:0.0	.	55	Q9UK53	ING1_HUMAN	I	55	ENSP00000364929:N55I	ENSP00000364929:N55I	N	+	2	0	ING1	110165955	1.000000	0.71417	1.000000	0.80357	0.671000	0.39405	4.220000	0.58567	1.809000	0.52856	0.459000	0.35465	AAC		0.602	ING1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045770.2	NM_005537		T	111367954	A	T	111367954	3	4	755	1	0	0	0	0	1	0	0	0	7737	43	2	5	314	5	ING1	13	111367954	Missense_Mutation	SNP	A	TCGA-KO-8415-01A-11D-2310-10		111367954	3801924	52	44492											
OR4M1	441670	mdanderson.org	37	14	20248760	20248760	+	Silent	SNP	C	C	A			TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr14:20248760C>A	ENST00000315957.4	+	1	360	c.279C>A	c.(277-279)tcC>tcA	p.S93S		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	93						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S93S(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGATAATTTCCTTTGGTGGAT	0.448																																																1	Substitution - coding silent(1)	large_intestine(1)											252	273	266					14																	20248760		2203	4300	6503	SO:0001819	synonymous_variant	441670				CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"GPCR / Class A : Olfactory receptors"	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.279C>A	14.37:g.20248760C>A			B9EH18|Q6IFA3	Silent	SNP	ENST00000315957.4	37	CCDS32021.1																																																																																				0.448	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1			A	20248760	C	A	20248760	2	1	755	1	0	0	0	0	0	0	0	1	11077	668	24	4		4	OR4M1	14	20248760	Silent	SNP	C	TCGA-KO-8415-01A-11D-2310-10		20248760	87100780	53	44493											
EVL	51466	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	14	100595075	100595075	+	Missense_Mutation	SNP	G	G	T			TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr14:100595075G>T	ENST00000402714.2	+	6	1305	c.701G>T	c.(700-702)aGa>aTa	p.R234I	EVL_ENST00000544450.2_Missense_Mutation_p.R240I|EVL_ENST00000392920.3_Missense_Mutation_p.R236I			Q9UI08	EVL_HUMAN	Enah/Vasp-like	234	EVH2 block A.|EVH2.				actin filament organization (GO:0007015)|actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ruffle assembly (GO:1900028)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of stress fiber assembly (GO:0051496)|protein homotetramerization (GO:0051289)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|membrane (GO:0016020)	profilin binding (GO:0005522)|SH3 domain binding (GO:0017124)			cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2)	14		Melanoma(154;0.152)				AAGCTGAGAAGAGTCCAACGG	0.657																																																0													27	30	29					14																	100595075		2196	4293	6489	SO:0001583	missense	51466			AF112209	CCDS9955.1	14q32.2	2014-08-13			ENSG00000196405	ENSG00000196405			20234	protein-coding gene	gene with protein product						10945997, 10993894	Standard	NM_016337		Approved	RNB6	uc001ygu.3	Q9UI08	OTTHUMG00000171530	ENST00000402714.2:c.701G>T	14.37:g.100595075G>T	ENSP00000384720:p.Arg234Ile		A8K105|O95884|Q7Z522|Q8TBV1|Q9UF25|Q9UIC2	Missense_Mutation	SNP	ENST00000402714.2	37		.	.	.	.	.	.	.	.	.	.	G	21.5	4.154557	0.78114	.	.	ENSG00000196405	ENST00000402714;ENST00000544450;ENST00000392920;ENST00000539470;ENST00000557384;ENST00000554695	T;T;T;T	0.72167	-0.62;-0.63;-0.63;0.64	5.2	4.27	0.50696	.	0.064953	0.56097	D	0.000025	T	0.78616	0.4311	M	0.76574	2.34	0.58432	D	0.999999	B;D;D	0.71674	0.006;0.998;0.996	B;P;P	0.59703	0.005;0.862;0.731	T	0.80513	-0.1349	10	0.87932	D	0	-21.3881	8.6814	0.34212	0.0758:0.0:0.7728:0.1514	.	240;236;234	B7Z3I5;Q9UI08-2;Q9UI08	.;.;EVL_HUMAN	I	234;240;236;199;130;51	ENSP00000384720:R234I;ENSP00000437904:R240I;ENSP00000376652:R236I;ENSP00000450979:R130I	ENSP00000376652:R236I	R	+	2	0	EVL	99664828	1.000000	0.71417	0.995000	0.50966	0.931000	0.56810	4.238000	0.58688	2.422000	0.82143	0.655000	0.94253	AGA		0.657	EVL-006	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000413958.1			T	100595075	G	T	100595075	3	4	755	1	0	0	0	0	1	0	0	0	5293	942	33	4	729	4	EVL	14	100595075	Missense_Mutation	SNP	G	TCGA-KO-8415-01A-11D-2310-10	80346315	100595075	6754465	54	44494											
KIF26A	26153	mdanderson.org	37	14	104643721	104643721	+	Silent	SNP	C	C	A	rs2487301	byFrequency	TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr14:104643721C>A	ENST00000423312.2	+	12	4596	c.4596C>A	c.(4594-4596)gcC>gcA	p.A1532A	KIF26A_ENST00000315264.7_Silent_p.A1393A	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1532					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)		GCCCTGTGGCCGGTCCCAGAG	0.731													C|||	2298	0.458866	0.7383	0.2911	5008	,	,		13223	0.372		0.3419	False		,,,				2504	0.41															0								C		2061,1315		665,731,292	4	6	5		4596	-7.6	0	14	dbSNP_100	5	2447,5087		528,1391,1848	no	coding-synonymous	KIF26A	NM_015656.1		1193,2122,2140	AA,AC,CC		32.4794,38.9514,41.3199		1532/1883	104643721	4508,6402	1688	3767	5455	SO:0001819	synonymous_variant	26153			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.4596C>A	14.37:g.104643721C>A			Q8TAZ7|Q96GK3|Q9UFL3	Silent	SNP	ENST00000423312.2	37	CCDS45171.1																																																																																				0.731	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1			A	104643721	C	A	104643721	2	1	755	1	0	0	0	0	0	0	0	1	8296	639	23	4		4	KIF26A	14	104643721	Silent	SNP	C	TCGA-KO-8415-01A-11D-2310-10	4048646	104643721	2705819	55	44495											
C15orf43	145645	mdanderson.org	37	15	45253735	45253735	+	Missense_Mutation	SNP	A	A	T	rs77033860	byFrequency	TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr15:45253735A>T	ENST00000340827.3	+	4	318	c.301A>T	c.(301-303)Att>Ttt	p.I101F	RNU6-1332P_ENST00000516666.1_RNA	NM_152448.2	NP_689661.1	Q8NHR7	CO043_HUMAN	chromosome 15 open reading frame 43	101										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)		AAGAAGAAAAATTGGTAGTTT	0.289																																																0													63	60	61					15																	45253735		2198	4293	6491	SO:0001583	missense	145645			BC029537	CCDS10115.1	15q21.1	2006-02-03			ENSG00000167014	ENSG00000167014			28520	protein-coding gene	gene with protein product							Standard	NM_152448		Approved	MGC33951	uc001zuk.4	Q8NHR7	OTTHUMG00000131264	ENST00000340827.3:c.301A>T	15.37:g.45253735A>T	ENSP00000340644:p.Ile101Phe			Missense_Mutation	SNP	ENST00000340827.3	37	CCDS10115.1	.	.	.	.	.	.	.	.	.	.	A	13.56	2.274786	0.40194	.	.	ENSG00000167014	ENST00000340827	T	0.49139	0.79	4.4	3.26	0.37387	.	0.243069	0.31909	N	0.006868	T	0.35008	0.0917	L	0.29908	0.895	0.37417	D	0.913478	P	0.35383	0.498	B	0.37943	0.261	T	0.30621	-0.9972	10	0.48119	T	0.1	.	8.141	0.31082	0.7769:0.2231:0.0:0.0	.	101	Q8NHR7	CO043_HUMAN	F	101	ENSP00000340644:I101F	ENSP00000340644:I101F	I	+	1	0	C15orf43	43041027	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.732000	0.26072	0.650000	0.30769	0.448000	0.29417	ATT		0.289	C15orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254032.1	NM_152448		T	45253735	A	T	45253735	3	4	755	1	0	0	0	0	1	0	0	0	1799	101	4	5	315	5	C15orf43	15	45253735	Missense_Mutation	SNP	A	TCGA-KO-8415-01A-11D-2310-10		45253735	57277657	56	44496											
CPPED1	55313	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	16	12798816	12798816	+	Missense_Mutation	SNP	T	T	A	rs3748982		TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr16:12798816T>A	ENST00000381774.4	-	3	620	c.380A>T	c.(379-381)aAc>aTc	p.N127I	CPPED1_ENST00000261660.4_Intron|CPPED1_ENST00000433677.2_Intron	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain containing 1	127	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						AATGTCATGGTTGCCGCTGAC	0.627																																																0													66	71	69					16																	12798816		2093	4219	6312	SO:0001583	missense	55313			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.380A>T	16.37:g.12798816T>A	ENSP00000371193:p.Asn127Ile		B4DQ68|Q6MZY9|Q9H9M9|Q9NUT6	Missense_Mutation	SNP	ENST00000381774.4	37	CCDS42120.1	.	.	.	.	.	.	.	.	.	.	T	17.05	3.290732	0.59976	.	.	ENSG00000103381	ENST00000381774	D	0.99304	-5.72	5.7	5.7	0.88788	Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	D	0.99518	0.9828	M	0.92923	3.36	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98268	1.0502	10	0.87932	D	0	-38.6905	13.9242	0.63952	0.0:0.0:0.0:1.0	.	127	Q9BRF8	CPPED_HUMAN	I	127	ENSP00000371193:N127I	ENSP00000371193:N127I	N	-	2	0	CPPED1	12706317	1.000000	0.71417	1.000000	0.80357	0.027000	0.11550	7.740000	0.84986	2.169000	0.68431	0.528000	0.53228	AAC		0.627	CPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395795.2	NM_018340		A	12798816	T	A	12798816	3	1	755	1	0	0	0	0	1	0	0	0	3824	1725	60	5	572	5	CPPED1	16	12798816	Missense_Mutation	SNP	T	TCGA-KO-8415-01A-11D-2310-10		12798816	77555937	57	44497											
CCDC135	84229	broad.mit.edu;mdanderson.org	37	16	57760055	57760055	+	Missense_Mutation	SNP	G	G	A	rs542227091	byFrequency	TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr16:57760055G>A	ENST00000360716.3	+	14	2055	c.1834G>A	c.(1834-1836)Gcg>Acg	p.A612T	CCDC135_ENST00000394337.4_Missense_Mutation_p.A612T|CCDC135_ENST00000336825.8_Missense_Mutation_p.A547T			Q8IY82	CC135_HUMAN		612					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)		p.A612T(1)		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						GTTTCTGGTCGCGGAGGAGCG	0.632													g|||	4	0.000798722	0.0008	0.0	5008	,	,		16364	0.003		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	lung(1)											56	48	51					16																	57760055		2198	4298	6496	SO:0001583	missense	84229																														ENST00000360716.3:c.1834G>A	16.37:g.57760055G>A	ENSP00000353942:p.Ala612Thr		A8K943|Q8NAA0|Q9H080	Missense_Mutation	SNP	ENST00000360716.3	37	CCDS10787.1	.	.	.	.	.	.	.	.	.	.	g	6.322	0.427552	0.11987	.	.	ENSG00000159625	ENST00000394337;ENST00000336825;ENST00000360716	T;T;T	0.10192	3.07;2.9;3.07	4.87	-9.73	0.00512	.	3.226540	0.00864	N	0.001941	T	0.04679	0.0127	N	0.22421	0.69	0.09310	N	1	B;B	0.16396	0.017;0.016	B;B	0.09377	0.004;0.004	T	0.36163	-0.9759	10	0.15499	T	0.54	0.6512	0.4774	0.00542	0.2806:0.1555:0.3011:0.2629	.	547;612	Q8IY82-2;Q8IY82	.;CC135_HUMAN	T	612;547;612	ENSP00000377869:A612T;ENSP00000338938:A547T;ENSP00000353942:A612T	ENSP00000338938:A547T	A	+	1	0	CCDC135	56317556	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-5.390000	0.00126	-1.869000	0.01141	0.655000	0.94253	GCG		0.632	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			A	57760055	G	A	57760055	3	1	755	1	0	0	0	0	1	0	0	0	2771	1087	38	1	1880	1	CCDC135	16	57760055	Missense_Mutation	SNP	G	TCGA-KO-8415-01A-11D-2310-10	44961239	57760055	32594698	58	44498											
LCAT	3931	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	16	67974324	67974324	+	Missense_Mutation	SNP	A	A	T			TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr16:67974324A>T	ENST00000264005.5	-	6	835	c.806T>A	c.(805-807)aTa>aAa	p.I269K		NM_000229.1	NP_000220.1	P04180	LCAT_HUMAN	lecithin-cholesterol acyltransferase	269					cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|high-density lipoprotein particle remodeling (GO:0034375)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein metabolic process (GO:0042157)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|regulation of high-density lipoprotein particle assembly (GO:0090107)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)	apolipoprotein A-I binding (GO:0034186)|phosphatidylcholine-sterol O-acyltransferase activity (GO:0004607)			cervix(4)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)		GGTGGTGGTTATGCGCTGCTC	0.582																																																0													139	120	126					16																	67974324		2198	4300	6498	SO:0001583	missense	3931				CCDS10854.1	16q22.1	2012-10-02			ENSG00000213398	ENSG00000213398	2.3.1.43		6522	protein-coding gene	gene with protein product		606967					Standard	NM_000229		Approved		uc002euy.1	P04180	OTTHUMG00000137551	ENST00000264005.5:c.806T>A	16.37:g.67974324A>T	ENSP00000264005:p.Ile269Lys		Q53XQ3	Missense_Mutation	SNP	ENST00000264005.5	37	CCDS10854.1	.	.	.	.	.	.	.	.	.	.	A	14.64	2.594408	0.46214	.	.	ENSG00000213398	ENST00000264005	D	0.95377	-3.69	5.89	3.57	0.40892	.	0.119263	0.56097	U	0.000039	D	0.93497	0.7925	M	0.81682	2.555	0.47737	D	0.999503	B	0.20164	0.042	B	0.18871	0.023	D	0.90033	0.4136	10	0.52906	T	0.07	-18.912	4.8882	0.13713	0.6798:0.1586:0.1616:0.0	.	269	P04180	LCAT_HUMAN	K	269	ENSP00000264005:I269K	ENSP00000264005:I269K	I	-	2	0	LCAT	66531825	1.000000	0.71417	0.622000	0.29159	0.962000	0.63368	6.155000	0.71833	1.064000	0.40671	0.459000	0.35465	ATA		0.582	LCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268885.3			T	67974324	A	T	67974324	3	4	755	1	0	0	0	0	1	0	0	0	8660	449	16	5	520	5	LCAT	16	67974324	Missense_Mutation	SNP	A	TCGA-KO-8415-01A-11D-2310-10	10214269	67974324	22380429	59	44499											
NCOR1	9611	mdanderson.org	37	17	16068464	16068464	+	Silent	SNP	G	G	A	rs200311165	byFrequency	TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr17:16068464G>A	ENST00000268712.3	-	5	704	c.447C>T	c.(445-447)ttC>ttT	p.F149F	NCOR1_ENST00000395848.1_Silent_p.F40F|NCOR1_ENST00000395851.1_Silent_p.F149F	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	149	Interaction with ZBTB33 and HEXIM1.				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)		GTTTGCCTCCGAATGCTGGAT	0.378																																																0													107	99	102					17																	16068464		2203	4300	6503	SO:0001819	synonymous_variant	9611			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"thyroid hormone- and retinoic acid receptor-associated corepressor 1", "protein phosphatase 1, regulatory subunit 109"	600849	"nuclear receptor co-repressor 1"			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.447C>T	17.37:g.16068464G>A			B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Silent	SNP	ENST00000268712.3	37	CCDS11175.1																																																																																				0.378	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		A	16068464	G	A	16068464	2	1	755	1	0	0	0	0	0	0	0	1	10237	1049	37	1		1	NCOR1	17	16068464	Silent	SNP	G	TCGA-KO-8415-01A-11D-2310-10		16068464	65126746	60	44500											
CCDC144NL	339184	mdanderson.org	37	17	20768803	20768803	+	Silent	SNP	C	C	T	rs561339792|rs76135364	byFrequency	TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr17:20768803C>T	ENST00000327925.5	-	4	710	c.591G>A	c.(589-591)gaG>gaA	p.E197E	RP11-344E13.3_ENST00000577537.1_RNA|CCDC144NL_ENST00000539484.1_5'UTR	NM_001004306.1	NP_001004306.1	Q6NUI1	C144L_HUMAN	coiled-coil domain containing 144 family, N-terminal like	197										large_intestine(3)|lung(3)|skin(1)	7						GAACCCTTTGCTCATGCAGAT	0.348																																																0													82	76	78					17																	20768803		2203	4299	6502	SO:0001819	synonymous_variant	339184				CCDS32591.1	17p11.2	2009-01-15			ENSG00000205212	ENSG00000205212			33735	protein-coding gene	gene with protein product							Standard	NM_001004306		Approved	MGC87631	uc002gyf.3	Q6NUI1	OTTHUMG00000132271	ENST00000327925.5:c.591G>A	17.37:g.20768803C>T				Silent	SNP	ENST00000327925.5	37	CCDS32591.1																																																																																				0.348	CCDC144NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255361.2	NM_001004306		T	20768803	C	T	20768803	2	4	755	1	0	0	0	0	0	0	0	1	2781	796	28	2		2	CCDC144NL	17	20768803	Silent	SNP	C	TCGA-KO-8415-01A-11D-2310-10	4700339	20768803	60426407	61	44501											
CCDC144NL	339184	mdanderson.org	37	17	20769964	20769964	+	Silent	SNP	C	C	A	rs79395366	byFrequency	TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr17:20769964C>A	ENST00000327925.5	-	3	587	c.468G>T	c.(466-468)gtG>gtT	p.V156V	RP11-344E13.3_ENST00000577537.1_RNA|RP11-344E13.3_ENST00000583962.1_RNA|RP11-344E13.3_ENST00000577860.1_RNA|RP11-344E13.3_ENST00000417232.2_RNA|RP11-344E13.3_ENST00000582324.1_RNA|CCDC144NL_ENST00000539484.1_5'UTR|RP11-344E13.3_ENST00000439794.2_RNA	NM_001004306.1	NP_001004306.1	Q6NUI1	C144L_HUMAN	coiled-coil domain containing 144 family, N-terminal like	156										large_intestine(3)|lung(3)|skin(1)	7						tcatctgctccaccgtaccac	0.612																																																0													69	45	53					17																	20769964		2137	4143	6280	SO:0001819	synonymous_variant	339184				CCDS32591.1	17p11.2	2009-01-15			ENSG00000205212	ENSG00000205212			33735	protein-coding gene	gene with protein product							Standard	NM_001004306		Approved	MGC87631	uc002gyf.3	Q6NUI1	OTTHUMG00000132271	ENST00000327925.5:c.468G>T	17.37:g.20769964C>A				Silent	SNP	ENST00000327925.5	37	CCDS32591.1																																																																																				0.612	CCDC144NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255361.2	NM_001004306		A	20769964	C	A	20769964	2	1	755	1	0	0	0	0	0	0	0	1	2781	581	21	4		4	CCDC144NL	17	20769964	Silent	SNP	C	TCGA-KO-8415-01A-11D-2310-10	1161	20769964	60425246	62	44502											
KRT34	3885	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	17	39535652	39535652	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr17:39535652G>A	ENST00000394001.1	-	5	985	c.955C>T	c.(955-957)Cgc>Tgc	p.R319C		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	319	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)				TTGACTGTGCGTCTCAGCTCG	0.582																																																0													136	110	119					17																	39535652		2203	4300	6503	SO:0001583	missense	3885			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.955C>T	17.37:g.39535652G>A	ENSP00000377570:p.Arg319Cys		Q8IUT8|Q8N4W2	Missense_Mutation	SNP	ENST00000394001.1	37	CCDS11390.1	.	.	.	.	.	.	.	.	.	.	g	13.59	2.282843	0.40394	.	.	ENSG00000131737	ENST00000394001;ENST00000251648	.	.	.	4.9	4.9	0.64082	Filament (1);	0.000000	0.64402	D	0.000004	T	0.69405	0.3107	M	0.75085	2.285	0.50813	D	0.999899	P	0.50710	0.938	P	0.46825	0.528	T	0.76258	-0.3025	9	0.87932	D	0	.	17.4103	0.87484	0.0:0.0:1.0:0.0	.	319	O76011	KRT34_HUMAN	C	277;319	.	ENSP00000251648:R319C	R	-	1	0	KRT34	36789178	1.000000	0.71417	1.000000	0.80357	0.058000	0.15608	4.309000	0.59135	2.422000	0.82143	0.555000	0.69702	CGC		0.582	KRT34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257304.3	NM_021013		A	39535652	G	A	39535652	3	1	755	1	0	0	0	0	1	0	0	0	8473	1145	40	1	367	1	KRT34	17	39535652	Missense_Mutation	SNP	G	TCGA-KO-8415-01A-11D-2310-10	18765688	39535652	41659558	63	44503											
DSC3	1825	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	18	28604440	28604440	+	Missense_Mutation	SNP	G	G	T			TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr18:28604440G>T	ENST00000360428.4	-	6	730	c.650C>A	c.(649-651)aCt>aAt	p.T217N	DSC3_ENST00000434452.1_Missense_Mutation_p.T217N	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	217	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)			TCCATCTGCAGTTGACGCATA	0.403																																																0													62	65	64					18																	28604440		2203	4300	6503	SO:0001583	missense	1825			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.650C>A	18.37:g.28604440G>T	ENSP00000353608:p.Thr217Asn		A6NN35|Q14200|Q9HAZ9	Missense_Mutation	SNP	ENST00000360428.4	37	CCDS32810.1	.	.	.	.	.	.	.	.	.	.	G	12.97	2.098160	0.37048	.	.	ENSG00000134762	ENST00000360428;ENST00000434452	T;T	0.45668	0.89;0.89	4.9	4.9	0.64082	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.58878	0.2153	L	0.48935	1.535	0.31889	N	0.617423	B;D	0.76494	0.443;0.999	B;D	0.74674	0.425;0.984	T	0.62690	-0.6801	9	0.56958	D	0.05	.	17.3669	0.87366	0.0:0.0:1.0:0.0	.	217;217	Q14574;Q14574-2	DSC3_HUMAN;.	N	217	ENSP00000353608:T217N;ENSP00000392068:T217N	ENSP00000353608:T217N	T	-	2	0	DSC3	26858438	0.999000	0.42202	0.387000	0.26183	0.146000	0.21551	4.619000	0.61218	2.691000	0.91804	0.655000	0.94253	ACT		0.403	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	NM_001941, NM_024423		T	28604440	G	T	28604440	3	4	755	1	0	0	0	0	1	0	0	0	4769	1029	36	4	2115	4	DSC3	18	28604440	Missense_Mutation	SNP	G	TCGA-KO-8415-01A-11D-2310-10		28604440	49472808	64	44504											
C19orf6	91304	mdanderson.org	37	19	1010406	1010406	+	Silent	SNP	G	G	A	rs62131162	byFrequency	TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr19:1010406G>A	ENST00000356663.3	-	11	1927	c.1806C>T	c.(1804-1806)ggC>ggT	p.G602G	TMEM259_ENST00000333175.5_3'UTR	NM_001033026.1	NP_001028198.1	Q4ZIN3	MBRL_HUMAN	transmembrane protein 259	602						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)											GGCTAGGCCCGCCTACCGCAG	0.741													N|||	505	0.100839	0.1278	0.098	5008	,	,		11980	0.001		0.1322	False		,,,				2504	0.137															0									,	328,3510		20,288,1611	3	4	4		1806,	-2.6	0	19	dbSNP_129	4	874,6922		40,794,3064	no	coding-synonymous,utr-3	C19orf6	NM_001033026.1,NM_033420.3	,	60,1082,4675	AA,AG,GG		11.2109,8.5461,10.3318	,	602/621,	1010406	1202,10432	1919	3898	5817	SO:0001819	synonymous_variant	91304			BC008957	CCDS12052.1, CCDS32862.1	19p13.3	2013-02-06	2013-02-06	2013-02-06	ENSG00000182087	ENSG00000182087			17039	protein-coding gene	gene with protein product	"membralin", "aspecific BCL2 ARE-binding protein 1"	611011	"chromosome 19 open reading frame 6"	C19orf6		12638133, 16084606	Standard	XM_005259675		Approved	MGC4022, ASBABP1, MBRL	uc002lqr.1	Q4ZIN3		ENST00000356663.3:c.1806C>T	19.37:g.1010406G>A			O60392|Q8NF79|Q96H30	Silent	SNP	ENST00000356663.3	37	CCDS32862.1																																																																																				0.741	TMEM259-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458236.1	NM_033420		A	1010406	G	A	1010406	2	1	755	1	0	0	0	0	0	0	0	1	1943	1074	38	1		1	C19orf6	19	1010406	Silent	SNP	G	TCGA-KO-8415-01A-11D-2310-10		1010406	58118577	65	44505											
SIN3B	23309	hgsc.bcm.edu;ucsc.edu	37	19	16982119	16982119	+	Silent	SNP	G	G	A			TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr19:16982119G>A	ENST00000248054.5	+	14	2523	c.2502G>A	c.(2500-2502)acG>acA	p.T834T	SIN3B_ENST00000595541.1_Silent_p.T424T|SIN3B_ENST00000379803.1_Silent_p.T866T					SIN3 transcription regulator family member B											endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						TCGACCCCACGCAGTACGAGG	0.627																																																0													115	96	103					19																	16982119		2203	4300	6503	SO:0001819	synonymous_variant	23309			AB014600	CCDS32946.1, CCDS74308.1	19p13.12	2013-08-21	2013-08-21						19354	protein-coding gene	gene with protein product		607777	"SIN3 homolog B, transcription regulator (yeast)", "SIN3 transcription regulator homolog B (yeast)"			9734811	Standard	XM_005259832		Approved	KIAA0700	uc002ney.2	O75182		ENST00000248054.5:c.2502G>A	19.37:g.16982119G>A				Silent	SNP	ENST00000248054.5	37																																																																																					0.627	SIN3B-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000462846.1	NM_015260		A	16982119	G	A	16982119	2	1	755	1	0	0	0	0	0	0	0	1	14332	1074	38	1		1	SIN3B	19	16982119	Silent	SNP	G	TCGA-KO-8415-01A-11D-2310-10	15971713	16982119	42146864	66	44506											
MAST3	23031	broad.mit.edu;mdanderson.org	37	19	18245714	18245714	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	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																																																0													98	106	103					19																	18245714		2062	4217	6279	SO:0001583	missense	23031			AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.1705G>A	19.37:g.18245714G>A	ENSP00000262811:p.Val569Ile		Q7LDZ8|Q9UPI0	Missense_Mutation	SNP	ENST00000262811.6	37	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		A	18245714	G	A	18245714	3	1	755	1	0	0	0	0	1	0	0	0	9328	1145	40	1	1767	1	MAST3	19	18245714	Missense_Mutation	SNP	G	TCGA-KO-8415-01A-11D-2310-10	1263595	18245714	40883269	67	44507											
HAPLN4	404037	mdanderson.org	37	19	19369435	19369435	+	Silent	SNP	A	A	G	rs2074295	byFrequency	TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr19:19369435A>G	ENST00000291481.7	-	4	777	c.714T>C	c.(712-714)agT>agC	p.S238S	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	238	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323, ECO:0000305}.				cell adhesion (GO:0007155)	proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)	p.S238S(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)		Hyaluronan(DB08818)	CGCCCCCTGCACTCCCGGTCC	0.701													G|||	1768	0.353035	0.4675	0.3213	5008	,	,		12281	0.2589		0.2117	False		,,,				2504	0.4632															1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)						G		1881,2525	599.7+/-389.3	404,1073,726	30	29	29		714	1.8	0	19	dbSNP_96	29	1941,6655	695.8+/-404.8	217,1507,2574	no	coding-synonymous	HAPLN4	NM_023002.2		621,2580,3300	GG,GA,AA		22.5803,42.6918,29.3955		238/403	19369435	3822,9180	2203	4298	6501	SO:0001819	synonymous_variant	404037			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.714T>C	19.37:g.19369435A>G			A5PKW5|Q96PW2	Silent	SNP	ENST00000291481.7	37	CCDS12398.1																																																																																				0.701	HAPLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460117.2	NM_023002		G	19369435	A	G	19369435	2	3	755	1	0	0	0	0	0	0	0	1	6959	156	6	3		3	HAPLN4	19	19369435	Silent	SNP	A	TCGA-KO-8415-01A-11D-2310-10	1123721	19369435	39759548	68	44508											
ARHGAP33	115703	broad.mit.edu	37	19	36278799	36278799	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr19:36278799C>T	ENST00000007510.4	+	21	3476	c.3332C>T	c.(3331-3333)cCc>cTc	p.P1111L	ARHGAP33_ENST00000378944.5_Missense_Mutation_p.P947L|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.P950L|AC002398.5_ENST00000433059.1_lincRNA			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	1111					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						CGCTCCATGCCCCCCGACAGG	0.647																																																0													22	24	23					19																	36278799		2202	4299	6501	SO:0001583	missense	115703			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.3332C>T	19.37:g.36278799C>T	ENSP00000007510:p.Pro1111Leu		O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Missense_Mutation	SNP	ENST00000007510.4	37		.	.	.	.	.	.	.	.	.	.	C	14.39	2.521279	0.44866	.	.	ENSG00000004777	ENST00000007510;ENST00000314737;ENST00000378944	T;T;T	0.25085	2.53;1.82;2.2	4.85	4.85	0.62838	.	0.000000	0.45606	D	0.000359	T	0.17323	0.0416	N	0.14661	0.345	0.58432	D	0.999999	P;P	0.40731	0.728;0.728	B;B	0.39217	0.294;0.294	T	0.06110	-1.0845	10	0.24483	T	0.36	.	17.0835	0.86604	0.0:1.0:0.0:0.0	.	947;950	O14559-10;O14559-11	.;.	L	1111;950;947	ENSP00000007510:P1111L;ENSP00000320038:P950L;ENSP00000368227:P947L	ENSP00000007510:P1111L	P	+	2	0	ARHGAP33	40970639	0.997000	0.39634	1.000000	0.80357	0.617000	0.37484	3.755000	0.55197	2.421000	0.82119	0.462000	0.41574	CCC		0.647	ARHGAP33-201	KNOWN	basic	protein_coding	protein_coding		NM_052948		T	36278799	C	T	36278799	3	4	755	1	0	0	0	0	1	0	0	0	882	623	22	2	3414	2	ARHGAP33	19	36278799	Missense_Mutation	SNP	C	TCGA-KO-8415-01A-11D-2310-10	16909364	36278799	22850184	69	44509											
FBL	2091	broad.mit.edu	37	19	40331124	40331124	+	Silent	SNP	A	A	G			TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr19:40331124A>G	ENST00000221801.3	-	3	326	c.213T>C	c.(211-213)ggT>ggC	p.G71G	FBL_ENST00000593503.1_5'Flank	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	71	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)		CCCGACCACGACCCCGGTTGC	0.587																																																0													213	190	198					19																	40331124		2203	4300	6503	SO:0001819	synonymous_variant	2091			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.213T>C	19.37:g.40331124A>G			B5BUE8|O75259|Q6IAT5|Q9UPI6	Silent	SNP	ENST00000221801.3	37	CCDS12545.1																																																																																				0.587	FBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462509.4	NM_001436		G	40331124	A	G	40331124	2	3	755	1	0	0	0	0	0	0	0	1	5698	262	10	3		3	FBL	19	40331124	Silent	SNP	A	TCGA-KO-8415-01A-11D-2310-10	4052325	40331124	18797859	70	44510											
ZNF615	284370	broad.mit.edu;ucsc.edu;mdanderson.org	37	19	52505118	52505118	+	Silent	SNP	T	T	G			TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr19:52505118T>G	ENST00000602063.1	-	5	535	c.186A>C	c.(184-186)cgA>cgC	p.R62R	ZNF615_ENST00000597747.1_Silent_p.R62R|ZNF615_ENST00000595114.1_5'Flank|ZNF615_ENST00000391795.3_Silent_p.R67R|ZNF615_ENST00000594083.1_Silent_p.R62R|ZNF615_ENST00000376716.5_Silent_p.R62R|ZNF615_ENST00000598071.1_Silent_p.R62R			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	62	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(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TTTCTTCTCCTCGTTCCAATT	0.463																																																0													183	141	155					19																	52505118		2203	4300	6503	SO:0001819	synonymous_variant	284370			AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"Zinc fingers, C2H2-type", "-"	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.186A>C	19.37:g.52505118T>G			B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Silent	SNP	ENST00000602063.1	37	CCDS12846.1																																																																																				0.463	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	NM_198480		G	52505118	T	G	52505118	2	3	755	1	0	0	0	0	0	0	0	1	18045	1538	54	5		5	ZNF615	19	52505118	Silent	SNP	T	TCGA-KO-8415-01A-11D-2310-10	12173994	52505118	6623865	71	44511											
VN1R2	317701	broad.mit.edu	37	19	53762250	53762250	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr19:53762250T>C	ENST00000341702.3	+	1	706	c.622T>C	c.(622-624)Tac>Cac	p.Y208H		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	208					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)		AGCCCCGACATACATTGGTCT	0.473																																																0													54	54	54					19																	53762250		2203	4300	6503	SO:0001583	missense	317701			AF370359	CCDS12862.1	19q13.42	2012-08-22			ENSG00000196131	ENSG00000196131		"Vomeronasal receptors / Type 1", "GPCR / Unclassified : Vomeronasal receptors, type 1"	19872	protein-coding gene	gene with protein product						12123587	Standard	NM_173856		Approved	V1RL2	uc002qbi.2	Q8NFZ6		ENST00000341702.3:c.622T>C	19.37:g.53762250T>C	ENSP00000351244:p.Tyr208His		A1L411|Q8TDU4	Missense_Mutation	SNP	ENST00000341702.3	37	CCDS12862.1	.	.	.	.	.	.	.	.	.	.	T	8.543	0.873682	0.17322	.	.	ENSG00000196131	ENST00000341702	T	0.05199	3.48	2.94	1.92	0.25849	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.06690	0.0171	L	0.39147	1.195	0.09310	N	1	P	0.37548	0.599	B	0.41135	0.348	T	0.34004	-0.9846	9	0.42905	T	0.14	.	4.7136	0.12884	0.0:0.2716:0.0:0.7284	.	208	Q8NFZ6	VN1R2_HUMAN	H	208	ENSP00000351244:Y208H	ENSP00000351244:Y208H	Y	+	1	0	VN1R2	58454062	0.000000	0.05858	0.004000	0.12327	0.058000	0.15608	0.011000	0.13264	0.560000	0.29169	0.486000	0.48141	TAC		0.473	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464285.1	NM_173856		C	53762250	T	C	53762250	3	2	755	1	0	0	0	0	1	0	0	0	17184	1406	49	3	624	3	VN1R2	19	53762250	Missense_Mutation	SNP	T	TCGA-KO-8415-01A-11D-2310-10	1257132	53762250	5366733	72	44512											
ZNF628	89887	mdanderson.org	37	19	55994240	55994240	+	Silent	SNP	C	C	T	rs12981044	byFrequency	TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr19:55994240C>T	ENST00000598519.1	+	3	2233	c.1680C>T	c.(1678-1680)caC>caT	p.H560H	ZNF628_ENST00000391718.2_Silent_p.H556H|NAT14_ENST00000591590.1_5'Flank|NAT14_ENST00000587400.1_5'Flank|NAT14_ENST00000205194.4_5'Flank			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	560					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(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		GCCACGTGCACACTGGCGAGA	0.716													N|||	2845	0.568091	0.6717	0.536	5008	,	,		12336	0.4375		0.5368	False		,,,				2504	0.6176															0										2855,1543		931,993,275	22	23	23		1668	3.1	1	19	dbSNP_121	23	4867,3723		1367,2133,795	no	coding-synonymous	ZNF628	NM_033113.2		2298,3126,1070	TT,TC,CC		43.3411,35.0841,40.5451		556/1056	55994240	7722,5266	2199	4295	6494	SO:0001819	synonymous_variant	89887			AF367249	CCDS33116.3	19q13.43	2013-01-08			ENSG00000197483	ENSG00000197483		"Zinc fingers, C2H2-type"	28054	protein-coding gene	gene with protein product	"Zinc finger expressed in Embryonal cells and Certain adult organs"	610671					Standard	NM_033113		Approved	ZEC, Zfp628	uc002qld.3	Q5EBL2	OTTHUMG00000150396	ENST00000598519.1:c.1680C>T	19.37:g.55994240C>T			Q86X34	Silent	SNP	ENST00000598519.1	37	CCDS33116.3																																																																																				0.716	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2	XM_058964		T	55994240	C	T	55994240	2	4	755	1	0	0	0	0	0	0	0	1	18057	477	17	2		2	ZNF628	19	55994240	Silent	SNP	C	TCGA-KO-8415-01A-11D-2310-10	2231990	55994240	3134743	73	44513											
JAG1	182	broad.mit.edu	37	20	10629266	10629266	+	Silent	SNP	A	A	G			TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr20:10629266A>G	ENST00000254958.5	-	12	2015	c.1500T>C	c.(1498-1500)ggT>ggC	p.G500G	JAG1_ENST00000488480.1_RNA|JAG1_ENST00000423891.2_Silent_p.G341G	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	500	EGF-like 8; 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						TCTGACAGTGACCCCCATTCA	0.498									Alagille Syndrome																																							0													77	73	74					20																	10629266		2203	4300	6503	SO:0001819	synonymous_variant	182	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	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.1500T>C	20.37:g.10629266A>G			A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Silent	SNP	ENST00000254958.5	37	CCDS13112.1																																																																																				0.498	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214		G	10629266	A	G	10629266	2	3	755	1	0	0	0	0	0	0	0	1	7936	262	10	3		3	JAG1	20	10629266	Silent	SNP	A	TCGA-KO-8415-01A-11D-2310-10		10629266	52396254	74	44514											
CST2	1470	mdanderson.org	37	20	23805930	23805930	+	Missense_Mutation	SNP	T	T	C	rs199856966		TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr20:23805930T>C	ENST00000304725.2	-	2	329	c.259A>G	c.(259-261)Ata>Gta	p.I87V		NM_001322.2	NP_001313.1	P09228	CYTT_HUMAN	cystatin SA	87					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)	extracellular space (GO:0005615)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|cervix(1)|large_intestine(1)|liver(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	10						CCCACCTCTATGTCGAAGAAG	0.537																																					Pancreas(193;496 3017 22514 29918)											0													314	240	265					20																	23805930		2203	4300	6503	SO:0001583	missense	1470			M19671	CCDS13161.1	20p11.2	2007-11-29			ENSG00000170369	ENSG00000170369			2474	protein-coding gene	gene with protein product	"cystatin 2"	123856					Standard	NM_001322		Approved		uc002wtq.1	P09228	OTTHUMG00000032086	ENST00000304725.2:c.259A>G	20.37:g.23805930T>C	ENSP00000307540:p.Ile87Val		Q9UCQ7	Missense_Mutation	SNP	ENST00000304725.2	37	CCDS13161.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.972408	0.00457	.	.	ENSG00000170369	ENST00000304725	T	0.11169	2.8	2.36	1.34	0.21922	Proteinase inhibitor I25, cystatin, conserved site (1);Proteinase inhibitor I25, cystatin (2);	0.163089	0.40818	N	0.001002	T	0.01523	0.0049	N	0.00150	-1.985	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43718	-0.9374	10	0.02654	T	1	.	5.1107	0.14808	0.0:0.6785:0.0:0.3215	.	87	P09228	CYTT_HUMAN	V	87	ENSP00000307540:I87V	ENSP00000307540:I87V	I	-	1	0	CST2	23753930	0.000000	0.05858	0.005000	0.12908	0.003000	0.03518	-0.283000	0.08433	-0.065000	0.13021	-0.665000	0.03846	ATA		0.537	CST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078352.2			C	23805930	T	C	23805930	3	2	755	1	0	0	0	0	1	0	0	0	3974	1464	51	3	174	3	CST2	20	23805930	Missense_Mutation	SNP	T	TCGA-KO-8415-01A-11D-2310-10	13176664	23805930	39219590	75	44515											
BAGE2	85319	mdanderson.org	37	21	11058230	11058230	+	RNA	SNP	C	C	A	rs372289393		TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr21:11058230C>A	ENST00000470054.1	-	0	417							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)		TGAAAGGTGTCGGCTCCTGCA	0.418																																																0													92	72	78					21																	11058230		692	1591	2283			85319			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.11058230C>A			A8K925|Q08ER0	Silent	SNP	ENST00000470054.1	37																																																																																					0.418	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		A	11058230	C	A	11058230	1	1	755	0	1	0	0	0	0	0	0	0	1292	871	31	4		4	BAGE2	21	11058230	RNA	SNP	C	TCGA-KO-8415-01A-11D-2310-10		11058230	37071665	76	44516											
KRTAP10-4	386672	mdanderson.org	37	21	45993851	45993851	+	Silent	SNP	C	C	T	rs201895065		TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr21:45993851C>T	ENST00000400374.3	+	1	246	c.216C>T	c.(214-216)tgC>tgT	p.C72C	TSPEAR_ENST00000397916.1_5'Flank|TSPEAR_ENST00000323084.4_Intron	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	72	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						CAGTGACCTGCGAGCCCAGCC	0.721																																																0													20	38	32					21																	45993851		1993	4191	6184	SO:0001819	synonymous_variant	386672			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.216C>T	21.37:g.45993851C>T			Q08AS0	Silent	SNP	ENST00000400374.3	37	CCDS42957.1																																																																																				0.721	KRTAP10-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128045.1	NM_198687		T	45993851	C	T	45993851	2	4	755	1	0	0	0	0	0	0	0	1	8513	776	27	1		1	KRTAP10-4	21	45993851	Silent	SNP	C	TCGA-KO-8415-01A-11D-2310-10	34935621	45993851	2136044	77	44517											
SCARF2	91179	mdanderson.org	37	22	20780296	20780296	+	Missense_Mutation	SNP	G	G	A	rs9680797	byFrequency	TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr22:20780296G>A	ENST00000266214.5	-	11	2086	c.1982C>T	c.(1981-1983)cCa>cTa	p.P661L	SCARF2_ENST00000405555.3_Missense_Mutation_p.P656L	NM_153334.4	NP_699165.2	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	661	Pro-rich.				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)			GGGGTCAGGTGGCGGCGGTTT	0.756													g|||	68	0.0135783	0.0008	0.0303	5008	,	,		7971	0.0		0.0398	False		,,,				2504	0.0061															0									LEU/PRO,LEU/PRO	27,4371		0,27,2172	16	20	19		1982,1967	3.4	0.9	22	dbSNP_119	19	316,8274		10,296,3989	yes	missense,missense	SCARF2	NM_153334.4,NM_182895.2	98,98	10,323,6161	AA,AG,GG		3.6787,0.6139,2.6409	probably-damaging,probably-damaging	661/871,656/866	20780296	343,12645	2199	4295	6494	SO:0001583	missense	91179			AF522196	CCDS13779.1, CCDS46666.1	22q11.21	2011-10-10			ENSG00000244486	ENSG00000244486			19869	protein-coding gene	gene with protein product		613619				12154095	Standard	XM_006724364		Approved	SREC-II, SREC2, HUMZD58C02	uc002zsk.2	Q96GP6	OTTHUMG00000150779	ENST00000266214.5:c.1982C>T	22.37:g.20780296G>A	ENSP00000266214:p.Pro661Leu		E5RFB8|Q58A83|Q8IXF3|Q9BW74	Missense_Mutation	SNP	ENST00000266214.5	37	CCDS13779.1	43	0.019688644688644688	4	0.008130081300813009	9	0.024861878453038673	0	0.0	30	0.0395778364116095	g	15.57	2.873045	0.51695	0.006139	0.036787	ENSG00000244486	ENST00000405555;ENST00000341328;ENST00000266214	T;T	0.22539	2.01;1.95	3.38	3.38	0.38709	.	0.084416	0.47093	U	0.000259	T	0.07458	0.0188	L	0.29908	0.895	0.49299	D	0.999771	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.01405	-1.1363	10	0.11485	T	0.65	.	12.6984	0.57018	0.0:0.0:1.0:0.0	rs9680797	656;656	E5RFB8;Q96GP6	.;SREC2_HUMAN	L	656;656;661	ENSP00000385589:P656L;ENSP00000266214:P661L	ENSP00000266214:P661L	P	-	2	0	SCARF2	19110296	1.000000	0.71417	0.865000	0.33974	0.132000	0.20833	8.286000	0.89916	1.917000	0.55516	0.441000	0.28932	CCA		0.756	SCARF2-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320047.1			A	20780296	G	A	20780296	3	1	755	1	0	0	0	0	1	0	0	0	13890	1348	47	2	634	2	SCARF2	22	20780296	Missense_Mutation	SNP	G	TCGA-KO-8415-01A-11D-2310-10		20780296	30524270	78	44518											
ARSD	414	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	X	2827911	2827911	+	Missense_Mutation	SNP	C	C	G			TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chrX:2827911C>G	ENST00000381154.1	-	8	1320	c.1245G>C	c.(1243-1245)atG>atC	p.M415I		NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	415					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)				GGAACACGTCCATCAGGCTCG	0.612																																																0													49	43	45					X																	2827911		2203	4300	6503	SO:0001583	missense	414			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.1245G>C	X.37:g.2827911C>G	ENSP00000370546:p.Met415Ile		Q9UHJ8	Missense_Mutation	SNP	ENST00000381154.1	37	CCDS35196.1	.	.	.	.	.	.	.	.	.	.	C	16.12	3.031848	0.54790	.	.	ENSG00000006756	ENST00000381154;ENST00000458014	D;D	0.98493	-4.96;-3.03	2.98	2.98	0.34508	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	U	0.000000	D	0.98353	0.9453	L	0.60012	1.86	0.51767	D	0.999933	D	0.89917	1.0	D	0.97110	1.0	D	0.98773	1.0729	10	0.66056	D	0.02	.	13.7858	0.63108	0.0:1.0:0.0:0.0	.	415	P51689	ARSD_HUMAN	I	415;17	ENSP00000370546:M415I;ENSP00000409180:M17I	ENSP00000370546:M415I	M	-	3	0	ARSD	2837911	1.000000	0.71417	0.838000	0.33150	0.203000	0.24098	4.688000	0.61715	1.286000	0.44565	0.436000	0.28706	ATG		0.612	ARSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055636.1			G	2827911	C	G	2827911	3	3	755	1	0	0	0	0	1	0	0	0	989	594	21	4	548	4	ARSD	23	2827911	Missense_Mutation	SNP	C	TCGA-KO-8415-01A-11D-2310-10		2827911	152442649	79	44519											
PRKX	5613	mdanderson.org	37	X	3631167	3631167	+	Missense_Mutation	SNP	A	A	G	rs3752362	byFrequency	TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chrX:3631167A>G	ENST00000262848.5	-	1	482	c.128T>C	c.(127-129)gTg>gCg	p.V43A		NM_005044.4	NP_005035.1	P51817	PRKX_HUMAN	protein kinase, X-linked	43			V -> A (in dbSNP:rs3752362).		angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial tube morphogenesis (GO:0060562)|kidney morphogenesis (GO:0060993)|myeloid cell differentiation (GO:0030099)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of epithelial cell differentiation involved in kidney development (GO:2000696)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)			kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(2)	12		all_lung(23;0.000396)|Lung NSC(23;0.00123)				CAGGCTGTACACAGGCGGCTC	0.751													N|||	2672	0.707815	0.736	0.4856	3775	,	,		7851	0.6944		0.2644	False		,,,				2504	0.4049															0								G	ALA/VAL	3226,436		1253,279,441,50,57	6	5	6		128	-0.4	0	X	dbSNP_107	6	2368,4079		373,1000,622,979,1121	yes	missense	PRKX	NM_005044.4	64	1626,1279,1063,1029,1178	GG,GA,G,AA,A		36.7303,11.9061,44.6632	benign	43/359	3631167	5594,4515	2080	4095	6175	SO:0001583	missense	5613				CCDS14125.1	Xp22.3	2008-08-01			ENSG00000183943	ENSG00000183943	2.7.11.1		9441	protein-coding gene	gene with protein product		300083				7633447	Standard	NM_005044		Approved	PKX1	uc010nde.3	P51817	OTTHUMG00000021087	ENST00000262848.5:c.128T>C	X.37:g.3631167A>G	ENSP00000262848:p.Val43Ala			Missense_Mutation	SNP	ENST00000262848.5	37	CCDS14125.1	1097	0.6612417118746232	255	0.8673469387755102	120	0.47619047619047616	261	0.8474025974025974	133	0.20336391437308868	G	2.016	-0.425905	0.04701	0.880939	0.367303	ENSG00000183943	ENST00000262848	T	0.07908	3.15	1.08	-0.453	0.12201	Protein kinase-like domain (1);	0.957488	0.08497	N	0.937090	T	0.00012	0.0000	N	0.02539	-0.55	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.07908	-1.0748	9	0.38643	T	0.18	.	1.5859	0.02644	0.284:0.0:0.3851:0.3309	rs3752362;rs57248025	43	P51817	PRKX_HUMAN	A	43	ENSP00000262848:V43A	ENSP00000262848:V43A	V	-	2	0	PRKX	3641167	0.007000	0.16637	0.001000	0.08648	0.016000	0.09150	-0.380000	0.07427	-0.338000	0.08413	-0.697000	0.03683	GTG		0.751	PRKX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055659.1	NM_005044		G	3631167	A	G	3631167	3	3	755	1	0	0	0	0	1	0	0	0	12532	159	6	3	980	3	PRKX	23	3631167	Missense_Mutation	SNP	A	TCGA-KO-8415-01A-11D-2310-10	803256	3631167	151639393	80	44520											
CLCNKB	1188	broad.mit.edu;mdanderson.org	37	1	16383402	16383402	+	Silent	SNP	C	C	T	rs6698427		TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr1:16383402C>T	ENST00000375679.4	+	20	2166	c.2055C>T	c.(2053-2055)gcC>gcT	p.A685A	CLCNKB_ENST00000375667.3_Silent_p.A515A|FAM131C_ENST00000494078.1_5'Flank	NM_000085.4	NP_000076.2	P51801	CLCKB_HUMAN	chloride channel, voltage-sensitive Kb	685					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)		ATCCGCCAGCCCCAAAGTGAG	0.587																																																0													66	64	65					1																	16383402		2203	4300	6503	SO:0001819	synonymous_variant	1188			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.2055C>T	1.37:g.16383402C>T			B3KUY3|Q5T5Q7|Q5T5Q8	Silent	SNP	ENST00000375679.4	37	CCDS168.1																																																																																				0.587	CLCNKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026331.1	NM_000085		T	16383402	C	T	16383402	2	4	756	1	0	0	0	0	0	0	0	1	3472	610	22	2		2	CLCNKB	1	16383402	Silent	SNP	C	TCGA-KO-8416-01A-11D-2310-10		16383402	232867219	1	44521											
ZMYM4	9202	ucsc.edu	37	1	35865108	35865108	+	Silent	SNP	A	A	G			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr1:35865108A>G	ENST00000314607.6	+	23	3539	c.3459A>G	c.(3457-3459)ggA>ggG	p.G1153G	ZMYM4_ENST00000373297.2_Silent_p.G1064G	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	1153					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TTAATAAAGGACAGGGAATCC	0.408																																																0													83	83	83					1																	35865108		2203	4300	6503	SO:0001819	synonymous_variant	9202			AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"Zinc fingers, MYM type"	13055	protein-coding gene	gene with protein product		613568	"zinc finger protein 262"	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.3459A>G	1.37:g.35865108A>G			A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Silent	SNP	ENST00000314607.6	37	CCDS389.1	.	.	.	.	.	.	.	.	.	.	A	9.861	1.196401	0.22037	.	.	ENSG00000146463	ENST00000457946	.	.	.	5.38	0.146	0.14833	.	.	.	.	.	T	0.42517	0.1206	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.20273	-1.0280	4	.	.	.	-10.5428	2.3725	0.04334	0.5597:0.1194:0.2068:0.1141	.	.	.	.	A	812	.	.	T	+	1	0	ZMYM4	35637695	0.998000	0.40836	0.994000	0.49952	0.974000	0.67602	0.553000	0.23391	-0.188000	0.10499	-1.887000	0.00540	ACA		0.408	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3	NM_005095		G	35865108	A	G	35865108	2	3	756	1	0	0	0	0	0	0	0	1	17707	262	10	3		3	ZMYM4	1	35865108	Silent	SNP	A	TCGA-KO-8416-01A-11D-2310-10	19481706	35865108	213385513	2	44522											
NRD1	4898	mdanderson.org	37	1	52306075	52306075	+	Silent	SNP	T	T	C	rs78724482	byFrequency	TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr1:52306075T>C	ENST00000354831.7	-	2	642	c.453A>G	c.(451-453)gaA>gaG	p.E151E	NRD1_ENST00000544028.1_Silent_p.E19E|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000539524.1_Silent_p.E19E|NRD1_ENST00000352171.7_Silent_p.E151E	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	0	Asp/Glu-rich (highly acidic).|Poly-Glu.				cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						cttcttcttcttcctccacct	0.388																																																0													165	136	146					1																	52306075		2203	4300	6503	SO:0001819	synonymous_variant	4898			X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.453A>G	1.37:g.52306075T>C			A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Silent	SNP	ENST00000354831.7	37	CCDS559.1																																																																																				0.388	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	NM_002525		C	52306075	T	C	52306075	2	2	756	1	0	0	0	0	0	0	0	1	10647	1606	56	3		3	NRD1	1	52306075	Silent	SNP	T	TCGA-KO-8416-01A-11D-2310-10	16440967	52306075	196944546	3	44523											
PDE4DIP	9659	bcgsc.ca	37	1	144906195	144906195	+	Splice_Site	SNP	T	T	C			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr1:144906195T>C	ENST00000369354.3	-	19	2627	c.2438A>G	c.(2437-2439)gAc>gGc	p.D813G	PDE4DIP_ENST00000369349.3_Splice_Site_p.D813G|PDE4DIP_ENST00000524974.1_Intron|PDE4DIP_ENST00000479408.2_Splice_Site_p.D600G|PDE4DIP_ENST00000529945.1_Splice_Site_p.D976G|PDE4DIP_ENST00000530740.1_Splice_Site_p.D950G|PDE4DIP_ENST00000369356.4_Splice_Site_p.D813G|PDE4DIP_ENST00000369351.3_Splice_Site_p.D813G|PDE4DIP_ENST00000313382.9_Splice_Site_p.D879G|PDE4DIP_ENST00000313431.9_Splice_Site_p.D976G|PDE4DIP_ENST00000369359.4_Splice_Site_p.D950G			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	813					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CATTTGCAGGTCCTAGAAGTC	0.398			T	PDGFRB	MPD																																		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													77	80	79					1																	144906195		2203	4296	6499	SO:0001630	splice_region_variant	9659			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.2437-1A>G	1.37:g.144906195T>C			A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.258082	0.80246	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000369353;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000313431;ENST00000529945;ENST00000479408	T;T;T;T;T;T;T;T;T;T	0.18810	4.41;4.34;4.34;4.31;4.24;3.42;3.4;2.32;2.35;2.19	5.97	5.97	0.96955	.	.	.	.	.	T	0.24586	0.0596	L	0.34521	1.04	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;0.998;0.999	D;D;D;D;D	0.91635	0.998;0.981;0.999;0.978;0.985	T	0.02721	-1.1119	9	0.46703	T	0.11	.	12.9928	0.58630	0.0:0.0:0.0:1.0	.	976;813;976;879;813	E9PL24;Q5VU43-7;Q5VU43-2;Q5VU43-3;Q5VU43	.;.;.;.;MYOME_HUMAN	G	879;813;813;976;950;950;813;813;976;976;600	ENSP00000327209:D879G;ENSP00000358360:D813G;ENSP00000358363:D813G;ENSP00000435654:D950G;ENSP00000358366:D950G;ENSP00000358357:D813G;ENSP00000358355:D813G;ENSP00000316434:D976G;ENSP00000433392:D976G;ENSP00000436791:D600G	ENSP00000327209:D879G	D	-	2	0	PDE4DIP	143617552	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.735000	0.68587	2.323000	0.78572	0.467000	0.42956	GAC		0.398	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359	Missense_Mutation	C	144906195	T	C	144906195	5	2	756	1	0	0	0	0	0	0	1	0	11645	1681	58	3	4716	3	PDE4DIP	1	144906195	Splice_Site	SNP	T	TCGA-KO-8416-01A-11D-2310-10	92600120	144906195	104344426	4	44524											
NBPF14	25832	broad.mit.edu	37	1	148010987	148010987	+	Silent	SNP	T	T	C			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr1:148010987T>C	ENST00000369219.1	-	14	1651	c.1635A>G	c.(1633-1635)tcA>tcG	p.S545S				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	545	NBPF 6. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.S545S(1)		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)					CTGAAGGAGTTGAATAACATC	0.478																																																1	Substitution - coding silent(1)	kidney(1)											2	2	2					1																	148010987		627	1514	2141	SO:0001819	synonymous_variant	25832			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.1635A>G	1.37:g.148010987T>C			Q5TI23|Q8IX76|Q9UJI9	Silent	SNP	ENST00000369219.1	37		.	.	.	.	.	.	.	.	.	.	-	0.755	-0.771349	0.02951	.	.	ENSG00000122497	ENST00000310701	.	.	.	.	.	.	.	.	.	.	.	T	0.08714	0.0216	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.36480	-0.9746	2	.	.	.	.	.	.	.	.	.	.	.	R	551	.	.	Q	-	2	0	NBPF14	146477611	0.914000	0.31030	0.004000	0.12327	0.003000	0.03518	-0.265000	0.08644	-0.568000	0.06038	-0.564000	0.04169	CAA		0.478	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_015383		C	148010987	T	C	148010987	2	2	756	1	0	0	0	0	0	0	0	1	10196	1799	63	3		3	NBPF14	1	148010987	Silent	SNP	T	TCGA-KO-8416-01A-11D-2310-10	3104792	148010987	101239634	5	44525											
FMN2	56776	bcgsc.ca	37	1	240497469	240497469	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr1:240497469T>C	ENST00000319653.9	+	13	4935	c.4705T>C	c.(4705-4707)Tca>Cca	p.S1569P	FMN2_ENST00000545751.1_Missense_Mutation_p.S165P	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1569	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TTTTCAGGCCTCACAGATGAA	0.368																																																0													125	138	134					1																	240497469		2203	4300	6503	SO:0001583	missense	56776			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.4705T>C	1.37:g.240497469T>C	ENSP00000318884:p.Ser1569Pro		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	T	25.1	4.598050	0.87055	.	.	ENSG00000155816	ENST00000319653;ENST00000545751;ENST00000537355;ENST00000406993	T;T	0.20738	2.05;2.05	5.52	5.52	0.82312	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.53938	D	0.000051	T	0.51924	0.1703	M	0.85462	2.755	0.80722	D	1	D;D;D;D	0.89917	1.0;0.996;1.0;0.999	D;D;D;D	0.91635	0.999;0.931;0.999;0.998	T	0.59862	-0.7374	10	0.87932	D	0	.	15.6348	0.76944	0.0:0.0:0.0:1.0	.	165;215;198;1569	B4DP05;F5H2C1;B4DN09;Q9NZ56	.;.;.;FMN2_HUMAN	P	1569;165;196;45	ENSP00000318884:S1569P;ENSP00000437918:S165P	ENSP00000318884:S1569P	S	+	1	0	FMN2	238564092	1.000000	0.71417	0.996000	0.52242	0.922000	0.55478	5.067000	0.64357	2.096000	0.63516	0.459000	0.35465	TCA		0.368	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		C	240497469	T	C	240497469	3	2	756	1	0	0	0	0	1	0	0	0	5952	1551	54	3	4755	3	FMN2	1	240497469	Missense_Mutation	SNP	T	TCGA-KO-8416-01A-11D-2310-10	92486482	240497469	8753152	6	44526											
KIF26B	55083	mdanderson.org	37	1	245851609	245851609	+	Missense_Mutation	SNP	C	C	G	rs150834033	byFrequency	TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr1:245851609C>G	ENST00000407071.2	+	12	5764	c.5324C>G	c.(5323-5325)cCc>cGc	p.P1775R	KIF26B_ENST00000366518.4_Missense_Mutation_p.P1394R	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1775	Ser-rich.				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)			AGCTCGCCCCCCGGTGGGAAG	0.721													C|||	70	0.0139776	0.0023	0.0274	5008	,	,		10300	0.002		0.0308	False		,,,				2504	0.0153															0								C	ARG/PRO	25,3179		2,21,1579	8	9	9		5324	5.3	0	1	dbSNP_134	9	219,6715		2,215,3250	yes	missense	KIF26B	NM_018012.3	103	4,236,4829	GG,GC,CC		3.1584,0.7803,2.4068	probably-damaging	1775/2109	245851609	244,9894	1602	3467	5069	SO:0001583	missense	55083			AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"Kinesins"	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.5324C>G	1.37:g.245851609C>G	ENSP00000385545:p.Pro1775Arg		Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	CCDS44342.1	37	0.01694139194139194	4	0.008130081300813009	10	0.027624309392265192	1	0.0017482517482517483	22	0.029023746701846966	C	12.79	2.043373	0.36085	0.007803	0.031584	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	D;D	0.83837	-1.77;-1.76	5.29	5.29	0.74685	.	.	.	.	.	T	0.76744	0.4030	M	0.78801	2.425	0.80722	D	1	D;D	0.57899	0.981;0.966	P;P	0.52758	0.708;0.564	D	0.85045	0.0925	9	0.87932	D	0	.	18.9252	0.92541	0.0:1.0:0.0:0.0	.	1394;1775	B7WPD9;Q2KJY2	.;KI26B_HUMAN	R	1775;1394;1391	ENSP00000385545:P1775R;ENSP00000355475:P1394R	ENSP00000355475:P1394R	P	+	2	0	KIF26B	243918232	0.998000	0.40836	0.016000	0.15963	0.081000	0.17604	7.547000	0.82146	2.475000	0.83589	0.462000	0.41574	CCC		0.721	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		G	245851609	C	G	245851609	3	3	756	1	0	0	0	0	1	0	0	0	8297	623	22	4	5370	4	KIF26B	1	245851609	Missense_Mutation	SNP	C	TCGA-KO-8416-01A-11D-2310-10	5354140	245851609	3399012	7	44527											
FBXO41	150726	mdanderson.org	37	2	73492614	73492614	+	Missense_Mutation	SNP	A	A	T	rs526106	byFrequency	TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr2:73492614A>T	ENST00000521871.1	-	5	1775	c.1360T>A	c.(1360-1362)Tcc>Acc	p.S454T	FBXO41_ENST00000520530.2_Missense_Mutation_p.S454T|FBXO41_ENST00000295133.5_Missense_Mutation_p.S515T			Q8TF61	FBX41_HUMAN	F-box protein 41	454				S -> T (in Ref. 3; BAB85526). {ECO:0000305}.						breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						GGGGGCTGGGACCGCTCTGAG	0.716													A|||	1654	0.330272	0.2837	0.2421	5008	,	,		11856	0.4752		0.2674	False		,,,				2504	0.3712															0								A	THR/SER	1058,2838		144,770,1034	15	18	17		1360	-0.8	0.9	2	dbSNP_83	17	2135,6093		283,1569,2262	no	missense	FBXO41	NM_001080410.2	58	427,2339,3296	TT,TA,AA		25.948,27.1561,26.3362	benign	454/876	73492614	3193,8931	1948	4114	6062	SO:0001583	missense	150726			AB075820	CCDS46337.1, CCDS46337.2	2p13.2	2004-08-24				ENSG00000163013		"F-boxes /  "other""	29409	protein-coding gene	gene with protein product		609108				11853319	Standard	NM_001080410		Approved	KIAA1940, Fbx41	uc021vjh.1	Q8TF61		ENST00000521871.1:c.1360T>A	2.37:g.73492614A>T	ENSP00000428646:p.Ser454Thr		G3V0Z7|Q2M1V8	Missense_Mutation	SNP	ENST00000521871.1	37	CCDS46337.2	714	0.3269230769230769	138	0.2804878048780488	100	0.27624309392265195	275	0.4807692307692308	201	0.26517150395778366	A	13.31	2.199095	0.38806	0.271561	0.25948	ENSG00000163013	ENST00000295133;ENST00000521871	.	.	.	5.52	-0.818	0.10833	.	0.643686	0.15471	N	0.260595	T	0.00012	0.0000	N	0.14661	0.345	0.44611	P	0.0024170000000000025	.	.	.	.	.	.	T	0.43523	-0.9386	6	0.07030	T	0.85	.	0.8479	0.01166	0.1821:0.347:0.2234:0.2476	rs526106	.	.	.	T	515;454	.	ENSP00000295133:S515T	S	-	1	0	FBXO41	73346122	0.998000	0.40836	0.946000	0.38457	0.962000	0.63368	0.752000	0.26362	-0.113000	0.11958	0.454000	0.30748	TCC		0.716	FBXO41-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377381.1			T	73492614	A	T	73492614	3	4	756	1	0	0	0	0	1	0	0	0	5752	275	10	5	1303	5	FBXO41	2	73492614	Missense_Mutation	SNP	A	TCGA-KO-8416-01A-11D-2310-10		73492614	169706759	8	44528											
ARHGEF3	50650	bcgsc.ca	37	3	56789174	56789175	+	Frame_Shift_Ins	INS	-	-	GGAGC			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr3:56789174_56789175insGGAGC	ENST00000296315.3	-	3	377_378	c.209_210insGCTCC	c.(208-210)tccfs	p.-70fs	ARHGEF3_ENST00000496106.1_Frame_Shift_Ins_p.-76fs|ARHGEF3_ENST00000338458.4_Frame_Shift_Ins_p.-102fs|ARHGEF3_ENST00000497267.1_Frame_Shift_Ins_p.-41fs|ARHGEF3_ENST00000413728.2_Frame_Shift_Ins_p.-76fs|ARHGEF3_ENST00000498517.1_5'UTR|ARHGEF3_ENST00000495373.1_Frame_Shift_Ins_p.-70fs	NM_019555.2	NP_062455.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3						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)		GGAAGCTAATGGAGCGCTAAAC	0.55																																																0																																										SO:0001589	frameshift_variant	50650			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.209_210insGCTCC	3.37:g.56789174_56789175insGGAGC	ENSP00000296315:p.Ser70fs		A8K5U7|Q4FZB6|Q4QQI5|Q4QQQ0|Q59F00|Q6NUN3|Q7Z4U2|Q7Z5T2|Q9H7T4	Frame_Shift_Ins	INS	ENST00000296315.3	37	CCDS2878.1																																																																																				0.55	ARHGEF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352431.2	NM_019555		GGAGC	56789175	-	GGAGC	56789174	7	5	756	1	0	1	1	0	0	0	0	0	904	1335	47	0	1402	0	ARHGEF3	3	56789174	Frame_Shift_Ins	INS	-	TCGA-KO-8416-01A-11D-2310-10		56789174	141233256	9	44529											
CD80	941	broad.mit.edu;mdanderson.org;bcgsc.ca	37	3	119263627	119263627	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr3:119263627C>T	ENST00000264246.3	-	3	550	c.188G>A	c.(187-189)cGc>cAc	p.R63H	CD80_ENST00000478182.1_Missense_Mutation_p.R63H|CD80_ENST00000383669.3_Missense_Mutation_p.R63H|CD80_ENST00000383668.3_Missense_Mutation_p.R63H	NM_005191.3	NP_005182.1	P33681	CD80_HUMAN	CD80 molecule	63	Ig-like V-type.				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)|intracellular signal transduction (GO:0035556)|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 granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of signal transduction (GO:0009967)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|positive regulation of transcription, DNA-templated (GO:0045893)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|viral process (GO:0016032)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	12					Abatacept(DB01281)|Belatacept(DB06681)	CCAGTAGATGCGAGTTTGTGC	0.468																																					Melanoma(132;135 1764 1806 5833 14593)											0													165	141	149					3																	119263627		2203	4300	6503	SO:0001583	missense	941				CCDS2989.1	3q13.3-q21	2013-01-11	2006-03-31		ENSG00000121594	ENSG00000121594		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	1700	protein-coding gene	gene with protein product	"B-lymphocyte activation antigen B7"	112203	"CD80 antigen (CD28 antigen ligand 1, B7-1 antigen)", "CD80 molecule "	CD28LG, CD28LG1		1370389	Standard	NM_005191		Approved	B7.1, B7-1	uc003ecq.3	P33681	OTTHUMG00000159419	ENST00000264246.3:c.188G>A	3.37:g.119263627C>T	ENSP00000264246:p.Arg63His		Q5DTA9|Q5DTB0	Missense_Mutation	SNP	ENST00000264246.3	37	CCDS2989.1	.	.	.	.	.	.	.	.	.	.	C	18.82	3.704898	0.68615	.	.	ENSG00000121594	ENST00000264246;ENST00000478182;ENST00000383669;ENST00000383668	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	5.13	5.13	0.70059	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.43260	D	0.000584	T	0.82162	0.4977	M	0.83603	2.65	0.21020	N	0.999801	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.997;0.996;0.998;0.998	T	0.75190	-0.3405	10	0.62326	D	0.03	-12.7701	13.9575	0.64160	0.0:1.0:0.0:0.0	.	63;63;63;63	Q5DTA9;Q5DTB0;A0N0P2;P33681	.;.;.;CD80_HUMAN	H	63	ENSP00000264246:R63H;ENSP00000418364:R63H;ENSP00000373165:R63H;ENSP00000373164:R63H	ENSP00000264246:R63H	R	-	2	0	CD80	120746317	0.550000	0.26489	0.052000	0.19188	0.026000	0.11368	3.213000	0.51153	2.665000	0.90641	0.650000	0.86243	CGC		0.468	CD80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355196.1	NM_005191		T	119263627	C	T	119263627	3	4	756	1	0	0	0	0	1	0	0	0	3040	768	27	1	694	1	CD80	3	119263627	Missense_Mutation	SNP	C	TCGA-KO-8416-01A-11D-2310-10	62474453	119263627	78758803	10	44530											
C4orf44	345222	mdanderson.org	37	4	3257593	3257593	+	Silent	SNP	C	C	T	rs362287	byFrequency	TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr4:3257593C>T	ENST00000438480.2	+	3	2485	c.738C>T	c.(736-738)cgC>cgT	p.R246R	MSANTD1_ENST00000507492.1_Silent_p.R233R|MSANTD1_ENST00000510580.1_Silent_p.R246R	NM_001042690.1	NP_001036155.1	Q6ZTZ1	MSD1_HUMAN	Myb/SANT-like DNA-binding domain containing 1	246										endometrium(1)|lung(2)	3						AGGTGCGCCGCGTGCTGGACC	0.667													C|||	1288	0.257188	0.0802	0.3069	5008	,	,		14882	0.3343		0.3787	False		,,,				2504	0.2566															0								C		442,3382		40,362,1510	7	8	8		738	-0.3	1	4	dbSNP_79	8	2174,5164		319,1536,1814	no	coding-synonymous	C4orf44	NM_001042690.1		359,1898,3324	TT,TC,CC		29.6266,11.5586,23.4367		246/279	3257593	2616,8546	1912	3669	5581	SO:0001819	synonymous_variant	345222				CCDS47003.1	4p16.2	2012-03-02	2012-03-02	2012-03-02	ENSG00000188981	ENSG00000188981			33741	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 44"	C4orf44			Standard	NM_001042690		Approved	LOC345222	uc003ggs.3	Q6ZTZ1	OTTHUMG00000159977	ENST00000438480.2:c.738C>T	4.37:g.3257593C>T			C9J6V0	Silent	SNP	ENST00000438480.2	37	CCDS47003.1																																																																																				0.667	MSANTD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370924.1	NM_001012982		T	3257593	C	T	3257593	2	4	756	1	0	0	0	0	0	0	0	1	2274	755	27	1		1	C4orf44	4	3257593	Silent	SNP	C	TCGA-KO-8416-01A-11D-2310-10		3257593	187896683	11	44531											
YTHDC1	91746	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	4	69195975	69195975	+	Missense_Mutation	SNP	T	T	A			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr4:69195975T>A	ENST00000344157.4	-	8	1511	c.1176A>T	c.(1174-1176)agA>agT	p.R392S	YTHDC1_ENST00000355665.3_Missense_Mutation_p.R374S|YTHDC1_ENST00000579690.1_Missense_Mutation_p.R392S	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	392	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						TCCTTGCAGATCTAAATGCAA	0.294																																																0													32	33	33					4																	69195975		2196	4285	6481	SO:0001583	missense	91746			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.1176A>T	4.37:g.69195975T>A	ENSP00000339245:p.Arg392Ser		Q4W5Q3|Q7Z622|Q8TF35	Missense_Mutation	SNP	ENST00000344157.4	37	CCDS33992.1	.	.	.	.	.	.	.	.	.	.	T	16.93	3.256900	0.59321	.	.	ENSG00000083896	ENST00000344157;ENST00000355665	T;T	0.30981	1.51;1.51	5.44	4.27	0.50696	YTH domain (2);	0.000000	0.85682	D	0.000000	T	0.55033	0.1895	M	0.80183	2.485	0.80722	D	1	D;D	0.64830	0.971;0.994	D;D	0.75020	0.981;0.985	T	0.58781	-0.7576	10	0.87932	D	0	.	11.0667	0.47979	0.0:0.0727:0.0:0.9273	.	374;392	Q96MU7-2;Q96MU7	.;YTDC1_HUMAN	S	392;374	ENSP00000339245:R392S;ENSP00000347888:R374S	ENSP00000339245:R392S	R	-	3	2	YTHDC1	68878570	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.624000	0.46444	0.921000	0.36994	0.482000	0.46254	AGA		0.294	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251437.1	NM_133370		A	69195975	T	A	69195975	3	1	756	1	0	0	0	0	1	0	0	0	17501	1432	50	5	1047	5	YTHDC1	4	69195975	Missense_Mutation	SNP	T	TCGA-KO-8416-01A-11D-2310-10	65938382	69195975	121958301	12	44532											
GK2	2712	broad.mit.edu;mdanderson.org;bcgsc.ca	37	4	80328442	80328442	+	Missense_Mutation	SNP	C	C	A			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr4:80328442C>A	ENST00000358842.3	-	1	930	c.913G>T	c.(913-915)Gct>Tct	p.A305S		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						AGTTTGTAAGCTACTGTGGTC	0.438																																																0													122	106	111					4																	80328442		2203	4300	6503	SO:0001583	missense	2712			BC029820	CCDS3585.1	4q13	2008-02-05	2002-10-03	2002-10-04	ENSG00000196475	ENSG00000196475		"Glycerol kinases"	4291	protein-coding gene	gene with protein product		600148	"glycerol kinase pseudogene 2"	GKP2		7987308	Standard	NM_033214		Approved	GKTA	uc003hlu.3	Q14410	OTTHUMG00000130199	ENST00000358842.3:c.913G>T	4.37:g.80328442C>A	ENSP00000351706:p.Ala305Ser		Q7Z4Q4	Missense_Mutation	SNP	ENST00000358842.3	37	CCDS3585.1	.	.	.	.	.	.	.	.	.	.	C	14.46	2.541867	0.45280	.	.	ENSG00000196475	ENST00000358842	D	0.91068	-2.78	4.18	4.18	0.49190	Carbohydrate kinase, FGGY, C-terminal (1);	0.171235	0.50627	D	0.000109	D	0.95984	0.8692	M	0.93978	3.48	0.58432	D	0.999995	D	0.65815	0.995	D	0.72338	0.977	D	0.96118	0.9082	10	0.72032	D	0.01	-12.0764	12.3114	0.54929	0.0:1.0:0.0:0.0	.	305	Q14410	GLPK2_HUMAN	S	305	ENSP00000351706:A305S	ENSP00000351706:A305S	A	-	1	0	GK2	80547466	1.000000	0.71417	0.998000	0.56505	0.018000	0.09664	6.529000	0.73812	2.645000	0.89757	0.585000	0.79938	GCT		0.438	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252517.2	NM_033214		A	80328442	C	A	80328442	3	1	756	1	0	0	0	0	1	0	0	0	6423	797	28	4	752	4	GK2	4	80328442	Missense_Mutation	SNP	C	TCGA-KO-8416-01A-11D-2310-10	11132467	80328442	110825834	13	44533											
MRPS30	10884	mdanderson.org	37	5	44809454	44809454	+	Silent	SNP	A	A	G	rs142383960		TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr5:44809454A>G	ENST00000507110.1	+	1	428	c.390A>G	c.(388-390)gaA>gaG	p.E130E	RP11-53O19.1_ENST00000505637.1_RNA|RP11-53O19.1_ENST00000505401.1_RNA|RP11-53O19.1_ENST00000505302.1_RNA|RP11-53O19.1_ENST00000514597.1_RNA|RP11-53O19.1_ENST00000503179.1_RNA|RP11-53O19.1_ENST00000508123.1_RNA|RP11-53O19.1_ENST00000503452.1_RNA|RP11-53O19.1_ENST00000508945.1_RNA	NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	130					apoptotic process (GO:0006915)|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)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					ccgagcccgaacccgaacctg	0.706																																																0													13	15	14					5																	44809454		2196	4295	6491	SO:0001819	synonymous_variant	10884			AF146192	CCDS3951.1	5q11	2012-09-13		2001-11-09	ENSG00000112996	ENSG00000112996		"Mitochondrial ribosomal proteins / small subunits"	8769	protein-coding gene	gene with protein product		611991		PDCD9		10640817, 11279123	Standard	NM_016640		Approved	PAP	uc003joh.3	Q9NP92	OTTHUMG00000096967	ENST00000507110.1:c.390A>G	5.37:g.44809454A>G			Q96I91|Q96Q19|Q9H0P8|Q9NSF9|Q9NZ76	Silent	SNP	ENST00000507110.1	37	CCDS3951.1																																																																																				0.706	MRPS30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214033.2	NM_016640		G	44809454	A	G	44809454	2	3	756	1	0	0	0	0	0	0	0	1	9842	40	2	3		3	MRPS30	5	44809454	Silent	SNP	A	TCGA-KO-8416-01A-11D-2310-10		44809454	136105806	14	44534											
C5orf44	80006	broad.mit.edu;mdanderson.org;bcgsc.ca	37	5	64942924	64942924	+	Missense_Mutation	SNP	T	T	A			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr5:64942924T>A	ENST00000399438.3	+	5	688	c.343T>A	c.(343-345)Tcc>Acc	p.S115T	TRAPPC13_ENST00000438419.2_Missense_Mutation_p.S115T|TRAPPC13_ENST00000231526.4_Missense_Mutation_p.S115T|TRAPPC13_ENST00000545191.1_Missense_Mutation_p.S115T|TRAPPC13_ENST00000505553.1_Missense_Mutation_p.S115T	NM_001093755.1|NM_024941.3	NP_001087224.1|NP_079217.2	A5PLN9	TPC13_HUMAN	trafficking protein particle complex 13	115																	TCTTTCAGCCTCCAATGCTGC	0.358																																																0													67	62	64					5																	64942924		1824	4087	5911	SO:0001583	missense	80006				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.343T>A	5.37:g.64942924T>A	ENSP00000382367:p.Ser115Thr		Q17RZ9|Q49A23|Q4JHG0|Q6MZG4|Q8TCM2|Q9H8I3	Missense_Mutation	SNP	ENST00000399438.3	37	CCDS47222.1	.	.	.	.	.	.	.	.	.	.	T	16.47	3.133539	0.56828	.	.	ENSG00000113597	ENST00000399438;ENST00000438419;ENST00000231526;ENST00000505553;ENST00000545191	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.55273	0.1910	L	0.35854	1.095	0.80722	D	1	B;B;B;B	0.16603	0.015;0.006;0.015;0.018	B;B;B;B	0.23018	0.026;0.015;0.026;0.043	T	0.51474	-0.8701	9	0.44086	T	0.13	-26.3722	15.8523	0.78943	0.0:0.0:0.0:1.0	.	115;115;115;115	A5PLN9-4;A5PLN9-2;A5PLN9-5;A5PLN9	.;.;.;CE044_HUMAN	T	115	.	ENSP00000231526:S115T	S	+	1	0	C5orf44	64978680	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.698000	0.84413	2.153000	0.67306	0.455000	0.32223	TCC		0.358	TRAPPC13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370113.1	NM_024941		A	64942924	T	A	64942924	3	1	756	1	0	0	0	0	1	0	0	0	2305	1551	54	5	361	5	C5orf44	5	64942924	Missense_Mutation	SNP	T	TCGA-KO-8416-01A-11D-2310-10	20133470	64942924	115972336	15	44535											
MCTP1	79772	broad.mit.edu;mdanderson.org;bcgsc.ca	37	5	94253666	94253666	+	Missense_Mutation	SNP	G	G	C			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr5:94253666G>C	ENST00000515393.1	-	8	1284	c.1285C>G	c.(1285-1287)Cca>Gca	p.P429A	MCTP1_ENST00000312216.8_Missense_Mutation_p.P208A|MCTP1_ENST00000505078.1_Intron|MCTP1_ENST00000505208.1_Missense_Mutation_p.P208A|MCTP1_ENST00000429576.2_Intron	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	429					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)		GGAAGAGCTGGCCTGCCGCAC	0.428																																																0													66	70	68					5																	94253666		2203	4300	6503	SO:0001583	missense	79772				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.1285C>G	5.37:g.94253666G>C	ENSP00000424126:p.Pro429Ala		Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Missense_Mutation	SNP	ENST00000515393.1	37	CCDS34203.1	.	.	.	.	.	.	.	.	.	.	G	10.48	1.360751	0.24598	.	.	ENSG00000175471	ENST00000515393;ENST00000312216;ENST00000512425;ENST00000505208	T;T;T;T	0.76709	-1.04;-0.91;-0.86;-1.03	5.14	3.35	0.38373	.	0.184499	0.33327	N	0.005036	T	0.60779	0.2295	N	0.22421	0.69	0.22591	N	0.998957	B;B	0.22683	0.043;0.073	B;B	0.21917	0.025;0.037	T	0.48198	-0.9056	10	0.32370	T	0.25	-0.7513	6.646	0.22934	0.0906:0.0:0.7344:0.175	.	429;208	Q6DN14;Q6DN14-2	MCTP1_HUMAN;.	A	429;208;90;208	ENSP00000424126:P429A;ENSP00000308957:P208A;ENSP00000431075:P90A;ENSP00000426438:P208A	ENSP00000308957:P208A	P	-	1	0	MCTP1	94279422	1.000000	0.71417	0.977000	0.42913	0.388000	0.30384	2.101000	0.41787	0.742000	0.32697	0.655000	0.94253	CCA		0.428	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370280.3	NM_024717		C	94253666	G	C	94253666	3	2	756	1	0	0	0	0	1	0	0	0	9402	1203	42	4	1778	4	MCTP1	5	94253666	Missense_Mutation	SNP	G	TCGA-KO-8416-01A-11D-2310-10	29310742	94253666	86661594	16	44536											
HIST1H2BK	85236	broad.mit.edu;ucsc.edu;mdanderson.org	37	6	27114569	27114569	+	Silent	SNP	T	T	C			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr6:27114569T>C	ENST00000356950.1	-	1	8	c.9A>G	c.(7-9)gaA>gaG	p.E3E	HIST1H2BK_ENST00000396891.4_Silent_p.E3E|HIST1H2AH_ENST00000377459.1_5'Flank|MIR3143_ENST00000584253.1_RNA			O60814	H2B1K_HUMAN	histone cluster 1, H2bk	3					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						ACTTCGCTGGTTCCGGCATGT	0.562																																																0													51	51	51					6																	27114569		2203	4300	6503	SO:0001819	synonymous_variant	85236			AJ223352	CCDS4621.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000197903	ENSG00000197903		"Histones / Replication-dependent"	13954	protein-coding gene	gene with protein product		615045	"H2B histone family, member T", "histone 1, H2bk"	H2BFT		12408966	Standard	NM_080593		Approved	H2BFAiii	uc003nix.2	O60814	OTTHUMG00000014473	ENST00000356950.1:c.9A>G	6.37:g.27114569T>C			A8K7P7|Q2VPI7	Silent	SNP	ENST00000356950.1	37	CCDS4621.1																																																																																				0.562	HIST1H2BK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040141.1	NM_080593		C	27114569	T	C	27114569	2	2	756	1	0	0	0	0	0	0	0	1	7152	1722	60	3		3	HIST1H2BK	6	27114569	Silent	SNP	T	TCGA-KO-8416-01A-11D-2310-10		27114569	144000498	17	44537											
SYNE1	23345	bcgsc.ca	37	6	152590301	152590301	+	Missense_Mutation	SNP	G	G	T			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr6:152590301G>T	ENST00000367255.5	-	99	19295	c.18694C>A	c.(18694-18696)Cag>Aag	p.Q6232K	SYNE1_ENST00000341594.5_Missense_Mutation_p.Q5844K|SYNE1_ENST00000356820.4_Missense_Mutation_p.Q756K|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q6232K|SYNE1_ENST00000423061.1_Missense_Mutation_p.Q6161K|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q6161K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6232					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)		TTTTGTTGCTGGAGACTGCTC	0.547										HNSCC(10;0.0054)																																						0													114	105	108					6																	152590301		2203	4300	6503	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.18694C>A	6.37:g.152590301G>T	ENSP00000356224:p.Gln6232Lys		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	32	5.127081	0.94429	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.58797	0.4;0.39;0.31;0.39;0.55;1.02	5.57	5.57	0.84162	.	0.000000	0.64402	D	0.000020	T	0.65481	0.2695	M	0.69823	2.125	0.80722	D	1	D;D;D	0.58268	0.97;0.97;0.982	P;P;P	0.54629	0.576;0.576;0.757	T	0.64854	-0.6309	10	0.46703	T	0.11	.	19.9066	0.97010	0.0:0.0:1.0:0.0	.	6232;6232;6161	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	K	6232;6161;6232;6161;5844;756	ENSP00000356224:Q6232K;ENSP00000396024:Q6161K;ENSP00000265368:Q6232K;ENSP00000390975:Q6161K;ENSP00000341887:Q5844K;ENSP00000349276:Q756K	ENSP00000265368:Q6232K	Q	-	1	0	SYNE1	152631994	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.269000	0.95684	2.779000	0.95612	0.655000	0.94253	CAG		0.547	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		T	152590301	G	T	152590301	3	4	756	1	0	0	0	0	1	0	0	0	15450	1357	47	4	7964	4	SYNE1	6	152590301	Missense_Mutation	SNP	G	TCGA-KO-8416-01A-11D-2310-10	125475732	152590301	18524766	18	44538											
BAZ1B	9031	mdanderson.org	37	7	72861634	72861634	+	Silent	SNP	C	C	T			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr7:72861634C>T	ENST00000339594.4	-	16	4142	c.3804G>A	c.(3802-3804)gaG>gaA	p.E1268E	BAZ1B_ENST00000404251.1_Silent_p.E1268E	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1268	Poly-Glu.				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)				cctcctcctcctcttcttcct	0.438																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)											0													178	145	156					7																	72861634		2203	4300	6503	SO:0001819	synonymous_variant	9031			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.3804G>A	7.37:g.72861634C>T			B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Silent	SNP	ENST00000339594.4	37	CCDS5549.1																																																																																				0.438	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408		T	72861634	C	T	72861634	2	4	756	1	0	0	0	0	0	0	0	1	1330	680	24	2		2	BAZ1B	7	72861634	Silent	SNP	C	TCGA-KO-8416-01A-11D-2310-10		72861634	86277029	19	44539											
RP1L1	94137	hgsc.bcm.edu	37	8	10465962	10465962	+	Missense_Mutation	SNP	C	C	A	rs111646478	byFrequency	TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr8:10465962C>A	ENST00000382483.3	-	4	5869	c.5646G>T	c.(5644-5646)gaG>gaT	p.E1882D		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1962					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)		CTGGCTGGGCCTCTCCTTCTG	0.617													C|||	159	0.0317492	0.0061	0.0548	5008	,	,		16897	0.001		0.0805	False		,,,				2504	0.0317															0													156	173	168					8																	10465962		1942	4150	6092	SO:0001583	missense	94137			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.5646G>T	8.37:g.10465962C>A	ENSP00000371923:p.Glu1882Asp		Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	C	6.872	0.530264	0.13127	.	.	ENSG00000183638	ENST00000382483	T	0.07800	3.16	1.4	-2.79	0.05841	.	.	.	.	.	T	0.04861	0.0131	N	0.24115	0.695	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.44267	-0.9339	9	0.23891	T	0.37	.	7.224	0.26005	0.6018:0.3982:0.0:0.0	.	1882	A6NKC6	.	D	1882	ENSP00000371923:E1882D	ENSP00000371923:E1882D	E	-	3	2	RP1L1	10503372	0.000000	0.05858	0.006000	0.13384	0.007000	0.05969	-3.895000	0.00340	-0.232000	0.09811	-0.516000	0.04426	GAG		0.617	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			A	10465962	C	A	10465962	3	1	756	1	0	0	0	0	1	0	0	0	13539	680	24	4	1560	4	RP1L1	8	10465962	Missense_Mutation	SNP	C	TCGA-KO-8416-01A-11D-2310-10		10465962	135898060	20	44540											
AMAC1L2	83650	mdanderson.org	37	8	11188748	11188748	+	Missense_Mutation	SNP	C	C	A	rs538767857	byFrequency	TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr8:11188748C>A	ENST00000382435.4	+	1	352	c.133C>A	c.(133-135)Ctg>Atg	p.L45M		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	45						integral component of membrane (GO:0016021)											GGTGGCCCTGCTGGGTGGGGG	0.677													C|||	3	0.000599042	0.0008	0.0014	5008	,	,		16814	0.001		0.0	False		,,,				2504	0.0															0													47	54	52					8																	11188748		2203	4300	6503	SO:0001583	missense	83650			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.133C>A	8.37:g.11188748C>A	ENSP00000371872:p.Leu45Met		A2RRL6	Missense_Mutation	SNP	ENST00000382435.4	37	CCDS5980.1	.	.	.	.	.	.	.	.	.	.	C	8.482	0.859971	0.17178	.	.	ENSG00000177710	ENST00000382435	T	0.34275	1.37	0.34	0.34	0.15985	.	0.230767	0.22238	N	0.062730	T	0.18841	0.0452	N	0.24115	0.695	0.31574	N	0.655966	B	0.13145	0.007	B	0.14578	0.011	T	0.06570	-1.0819	10	0.52906	T	0.07	-3.4659	2.848	0.05549	0.0:0.5979:0.0:0.4021	.	45	Q96KT7	S35G5_HUMAN	M	45	ENSP00000371872:L45M	ENSP00000371872:L45M	L	+	1	2	SLC35G5	11226158	0.990000	0.36364	0.929000	0.37066	0.229000	0.25112	-0.196000	0.09532	0.426000	0.26116	0.089000	0.15464	CTG		0.677	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207313.2	NM_054028		A	11188748	C	A	11188748	3	1	756	1	0	0	0	0	1	0	0	0	560	796	28	4	135	4	AMAC1L2	8	11188748	Missense_Mutation	SNP	C	TCGA-KO-8416-01A-11D-2310-10	722786	11188748	135175274	21	44541											
MTMR7	9108	ucsc.edu	37	8	17206529	17206529	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr8:17206529A>G	ENST00000180173.5	-	5	564	c.530T>C	c.(529-531)gTg>gCg	p.V177A	MTMR7_ENST00000523571.1_5'UTR|MTMR7_ENST00000521857.1_Missense_Mutation_p.V177A	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	177	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				inositol phosphate dephosphorylation (GO:0046855)|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)	cytosol (GO:0005829)|membrane (GO:0016020)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		GGAACTCCCCACTATGATGTG	0.428																																																0													135	129	131					8																	17206529		2203	4300	6503	SO:0001583	missense	9108			AF073482	CCDS34851.1	8p22	2011-06-09			ENSG00000003987	ENSG00000003987		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7454	protein-coding gene	gene with protein product		603562				9736772, 12890864	Standard	NM_004686		Approved		uc003wxm.3	Q9Y216	OTTHUMG00000163771	ENST00000180173.5:c.530T>C	8.37:g.17206529A>G	ENSP00000180173:p.Val177Ala		A1L4K9|B4DG87|Q68DX4	Missense_Mutation	SNP	ENST00000180173.5	37	CCDS34851.1	.	.	.	.	.	.	.	.	.	.	A	27.8	4.865172	0.91511	.	.	ENSG00000003987	ENST00000180173;ENST00000521857	D;D	0.92595	-3.07;-3.07	5.24	5.24	0.73138	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.241929	0.41823	D	0.000808	D	0.92750	0.7695	L	0.52364	1.645	0.80722	D	1	P	0.43024	0.798	P	0.54372	0.75	D	0.90246	0.4290	10	0.15499	T	0.54	.	15.851	0.78930	1.0:0.0:0.0:0.0	.	177	Q9Y216	MTMR7_HUMAN	A	177	ENSP00000180173:V177A;ENSP00000429733:V177A	ENSP00000180173:V177A	V	-	2	0	MTMR7	17250900	1.000000	0.71417	0.949000	0.38748	0.995000	0.86356	6.971000	0.76105	2.281000	0.76405	0.533000	0.62120	GTG		0.428	MTMR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375311.1	NM_004686		G	17206529	A	G	17206529	3	3	756	1	0	0	0	0	1	0	0	0	9950	159	6	3	1492	3	MTMR7	8	17206529	Missense_Mutation	SNP	A	TCGA-KO-8416-01A-11D-2310-10	6017781	17206529	129157493	22	44542											
ARFGEF1	10565	hgsc.bcm.edu	37	8	68112661	68112661	+	Silent	SNP	T	T	C			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr8:68112661T>C	ENST00000262215.3	-	38	5744	c.5355A>G	c.(5353-5355)ctA>ctG	p.L1785L	ARFGEF1_ENST00000518230.1_Silent_p.L623L|ARFGEF1_ENST00000520381.1_Silent_p.L1239L|ARFGEF1_ENST00000517955.1_5'UTR	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1785					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)			GAACTTTAGTTAGAAACAAAA	0.428																																																0													114	113	113					8																	68112661		2203	4300	6503	SO:0001819	synonymous_variant	10565			AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.5355A>G	8.37:g.68112661T>C			Q9NV46|Q9UFV2|Q9UNL0	Silent	SNP	ENST00000262215.3	37	CCDS6199.1																																																																																				0.428	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		C	68112661	T	C	68112661	2	2	756	1	0	0	0	0	0	0	0	1	852	1741	61	3		3	ARFGEF1	8	68112661	Silent	SNP	T	TCGA-KO-8416-01A-11D-2310-10	50906132	68112661	78251361	23	44543											
MTDH	92140	ucsc.edu;bcgsc.ca	37	8	98736833	98736833	+	Missense_Mutation	SNP	T	T	C	rs372764968		TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr8:98736833T>C	ENST00000336273.3	+	12	2012	c.1684T>C	c.(1684-1686)Tct>Cct	p.S562P	MTDH_ENST00000519934.1_Missense_Mutation_p.S506P	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	562					lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of angiogenesis (GO:0045766)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)	double-stranded RNA binding (GO:0003725)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			TTTAGCCAAGTCTGAAACTAG	0.323																																																0													102	104	103					8																	98736833		2203	4300	6503	SO:0001583	missense	92140			AF411226	CCDS6274.1	8q22.1	2014-07-14			ENSG00000147649	ENSG00000147649			29608	protein-coding gene	gene with protein product	"astrocyte elevated gene 1"	610323				15093543	Standard	NM_178812		Approved	LYRIC, 3D3, AEG-1	uc003yhz.3	Q86UE4	OTTHUMG00000164692	ENST00000336273.3:c.1684T>C	8.37:g.98736833T>C	ENSP00000338235:p.Ser562Pro		Q05DH2|Q52QU9|Q6PK07|Q8TCX3	Missense_Mutation	SNP	ENST00000336273.3	37	CCDS6274.1	.	.	.	.	.	.	.	.	.	.	T	15.21	2.766344	0.49574	.	.	ENSG00000147649	ENST00000336273;ENST00000519934;ENST00000521933	T;T	0.54479	0.57;0.57	5.64	5.64	0.86602	.	0.059502	0.64402	D	0.000001	T	0.64702	0.2622	L	0.42245	1.32	0.49213	D	0.99976	D	0.89917	1.0	D	0.85130	0.997	T	0.63107	-0.6711	10	0.38643	T	0.18	-5.6617	14.4204	0.67180	0.0:0.0:0.0:1.0	.	562	Q86UE4	LYRIC_HUMAN	P	562;506;185	ENSP00000338235:S562P;ENSP00000428168:S506P	ENSP00000338235:S562P	S	+	1	0	MTDH	98806009	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.491000	0.66887	2.148000	0.66965	0.533000	0.62120	TCT		0.323	MTDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379772.2			C	98736833	T	C	98736833	3	2	756	1	0	0	0	0	1	0	0	0	9919	1667	58	3	1730	3	MTDH	8	98736833	Missense_Mutation	SNP	T	TCGA-KO-8416-01A-11D-2310-10	30624172	98736833	47627189	24	44544											
SMARCA2	6595	mdanderson.org	37	9	2039815	2039815	+	Silent	SNP	G	G	A	rs574062756	byFrequency	TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr9:2039815G>A	ENST00000382203.1	+	4	914	c.705G>A	c.(703-705)caG>caA	p.Q235Q	SMARCA2_ENST00000357248.2_Silent_p.Q235Q|RP11-264I13.2_ENST00000426860.1_RNA|SMARCA2_ENST00000382194.1_Silent_p.Q235Q|SMARCA2_ENST00000349721.2_Silent_p.Q235Q|SMARCA2_ENST00000491574.1_3'UTR			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	235	Poly-Gln.				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)		agcagcagcagcaacagcagc	0.587													G|||	41	0.0081869	0.0151	0.0029	5008	,	,		10366	0.0089		0.0	False		,,,				2504	0.0102															0													10	13	12					9																	2039815		2161	4205	6366	SO:0001819	synonymous_variant	6595			D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.705G>A	9.37:g.2039815G>A			B1ALG3|B1ALG4|D3DRH4|D3DRH5	Silent	SNP	ENST00000382203.1	37	CCDS34977.1																																																																																				0.587	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		A	2039815	G	A	2039815	2	1	756	1	0	0	0	0	0	0	0	1	14775	962	34	2		2	SMARCA2	9	2039815	Silent	SNP	G	TCGA-KO-8416-01A-11D-2310-10		2039815	139173616	25	44545											
EPB41L4B	54566	mdanderson.org	37	9	112082510	112082510	+	Missense_Mutation	SNP	C	C	T	rs117569740	byFrequency	TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr9:112082510C>T	ENST00000374566.3	-	1	734	c.217G>A	c.(217-219)Gtg>Atg	p.V73M	EPB41L4B_ENST00000374557.4_Missense_Mutation_p.V73M	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	73				V -> M (in Ref. 2; BAA96079). {ECO:0000305}.	actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAGATGTGCACGGCCGCGCCG	0.796													c|||	470	0.0938498	0.0129	0.072	5008	,	,		4964	0.1855		0.159	False		,,,				2504	0.0573															0									MET/VAL,MET/VAL	73,2621		0,73,1274	2	3	2		217,217	2.9	1	9	dbSNP_132	2	697,5609		29,639,2485	no	missense,missense	EPB41L4B	NM_018424.2,NM_019114.3	21,21	29,712,3759	TT,TC,CC		11.053,2.7097,8.5556	benign,benign	73/519,73/901	112082510	770,8230	1347	3153	4500	SO:0001583	missense	54566			AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.217G>A	9.37:g.112082510C>T	ENSP00000363694:p.Val73Met		Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Missense_Mutation	SNP	ENST00000374566.3	37	CCDS43859.1	304	0.1391941391941392	12	0.024390243902439025	31	0.0856353591160221	123	0.21503496503496503	138	0.1820580474934037	c	16.13	3.036368	0.54896	0.027097	0.11053	ENSG00000095203	ENST00000374566;ENST00000374557	D;D	0.84070	-1.77;-1.8	2.94	2.94	0.34122	.	.	.	.	.	T	0.00178	0.0005	N	0.24115	0.695	0.27693	P	0.9460421	D;D	0.89917	1.0;0.999	D;D	0.66847	0.947;0.92	T	0.07597	-1.0764	8	0.35671	T	0.21	.	10.0702	0.42328	0.0:1.0:0.0:0.0	.	73;73	Q9H329-2;Q9H329	.;E41LB_HUMAN	M	73	ENSP00000363694:V73M;ENSP00000363685:V73M	ENSP00000363685:V73M	V	-	1	0	EPB41L4B	111122331	0.998000	0.40836	0.998000	0.56505	0.000000	0.00434	1.975000	0.40569	1.467000	0.48044	0.000000	0.15137	GTG		0.796	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053592.1	NM_018424		T	112082510	C	T	112082510	3	4	756	1	0	0	0	0	1	0	0	0	5158	536	19	1	2741	1	EPB41L4B	9	112082510	Missense_Mutation	SNP	C	TCGA-KO-8416-01A-11D-2310-10	110042695	112082510	29130921	26	44546											
UCN3	114131	broad.mit.edu	37	10	5415962	5415962	+	Silent	SNP	C	C	T			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr10:5415962C>T	ENST00000380433.3	+	2	507	c.279C>T	c.(277-279)acC>acT	p.T93T		NM_053049.2	NP_444277.2	Q969E3	UCN3_HUMAN	urocortin 3	93					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|digestion (GO:0007586)|positive regulation of insulin secretion (GO:0032024)|positive regulation of membrane potential (GO:0045838)|response to corticosterone (GO:0051412)|response to glucose (GO:0009749)|response to immobilization stress (GO:0035902)|response to starvation (GO:0042594)	axon terminus (GO:0043679)|extracellular space (GO:0005615)|varicosity (GO:0043196)				endometrium(1)|large_intestine(1)	2						CCAGAGGCACCCGGTACAGAT	0.627																																																0													57	57	57					10																	5415962		2201	4299	6500	SO:0001819	synonymous_variant	114131			AF361943	CCDS7065.1	10p15.1	2013-02-28	2012-10-17		ENSG00000178473	ENSG00000178473		"Endogenous ligands"	17781	protein-coding gene	gene with protein product	"stresscopin", "prepro-urocortin 3"	605901				11416224	Standard	NM_053049		Approved	UCNIII, SPC	uc001ihx.1	Q969E3	OTTHUMG00000017594	ENST00000380433.3:c.279C>T	10.37:g.5415962C>T			Q496H2|Q5SR91	Silent	SNP	ENST00000380433.3	37	CCDS7065.1																																																																																				0.627	UCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046547.1	NM_053049		T	5415962	C	T	5415962	2	4	756	1	0	0	0	0	0	0	0	1	16934	610	22	2		2	UCN3	10	5415962	Silent	SNP	C	TCGA-KO-8416-01A-11D-2310-10		5415962	130118785	27	44547											
SLK	9748	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	10	105727558	105727558	+	Missense_Mutation	SNP	A	A	C	rs137997569		TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr10:105727558A>C	ENST00000369755.3	+	1	600	c.55A>C	c.(55-57)Aag>Cag	p.K19Q	SLK_ENST00000335753.4_Missense_Mutation_p.K19Q	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	19	Poly-Lys.				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)		GAAGAAGAAGAAGCAGTACGA	0.458													A|||	1	0.000199681	0.0	0.0014	5008	,	,		14767	0.0		0.0	False		,,,				2504	0.0				NSCLC(111;540 1651 1927 4474 17706)											0								A	GLN/LYS	1,4405	2.1+/-5.4	0,1,2202	129	137	134		55	4.6	1	10	dbSNP_134	134	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SLK	NM_014720.2	53	0,3,6500	CC,CA,AA		0.0233,0.0227,0.0231	probably-damaging	19/1236	105727558	3,13003	2203	4300	6503	SO:0001583	missense	9748				CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)", "STE20-like kinase (yeast)"			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.55A>C	10.37:g.105727558A>C	ENSP00000358770:p.Lys19Gln		D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Missense_Mutation	SNP	ENST00000369755.3	37	CCDS7553.1	.	.	.	.	.	.	.	.	.	.	A	31	5.085324	0.94100	2.27E-4	2.33E-4	ENSG00000065613	ENST00000335753;ENST00000369755	T;T	0.71222	-0.55;-0.55	4.57	4.57	0.56435	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.81973	0.4936	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.991	D	0.84148	0.0421	10	0.72032	D	0.01	.	13.9341	0.64015	1.0:0.0:0.0:0.0	.	19;19	Q9H2G2-2;Q9H2G2	.;SLK_HUMAN	Q	19	ENSP00000336824:K19Q;ENSP00000358770:K19Q	ENSP00000336824:K19Q	K	+	1	0	SLK	105717548	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	8.916000	0.92745	1.690000	0.51089	0.260000	0.18958	AAG		0.458	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1	NM_014720		C	105727558	A	C	105727558	3	2	756	1	0	0	0	0	1	0	0	0	14754	247	9	5	57	5	SLK	10	105727558	Missense_Mutation	SNP	A	TCGA-KO-8416-01A-11D-2310-10	100311596	105727558	29807189	28	44548											
KNDC1	85442	ucsc.edu	37	10	135020674	135020674	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr10:135020674T>C	ENST00000304613.3	+	20	3634	c.3613T>C	c.(3613-3615)Tgc>Cgc	p.C1205R	KNDC1_ENST00000368571.2_3'UTR|KNDC1_ENST00000368572.2_Missense_Mutation_p.C1207R			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1205					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)		CCTGGAGCCCTGCACCCTCCC	0.662																																																0													27	25	26					10																	135020674		2194	4296	6490	SO:0001583	missense	85442			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.3613T>C	10.37:g.135020674T>C	ENSP00000304437:p.Cys1205Arg		B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	T	10.31	1.315195	0.23908	.	.	ENSG00000171798	ENST00000304613;ENST00000368572	T;T	0.12039	2.72;2.72	3.63	0.808	0.18719	.	0.277674	0.29321	U	0.012493	T	0.11793	0.0287	L	0.57536	1.79	0.45005	D	0.998027	D	0.54601	0.967	P	0.46026	0.501	T	0.32851	-0.9891	10	0.23302	T	0.38	-17.9744	0.8433	0.01155	0.2313:0.1132:0.178:0.4774	.	1205	Q76NI1	VKIND_HUMAN	R	1205;1207	ENSP00000304437:C1205R;ENSP00000357561:C1207R	ENSP00000304437:C1205R	C	+	1	0	KNDC1	134870664	0.783000	0.28701	0.988000	0.46212	0.474000	0.32979	1.015000	0.29963	0.039000	0.15632	0.353000	0.21931	TGC		0.662	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		C	135020674	T	C	135020674	3	2	756	1	0	0	0	0	1	0	0	0	8428	1580	55	3	3691	3	KNDC1	10	135020674	Missense_Mutation	SNP	T	TCGA-KO-8416-01A-11D-2310-10	29293116	135020674	514073	29	44549											
MUC6	4588	broad.mit.edu;mdanderson.org;bcgsc.ca	37	11	1017180	1017180	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr11:1017180G>A	ENST00000421673.2	-	31	5671	c.5621C>T	c.(5620-5622)aCa>aTa	p.T1874I		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1874	Approximate repeats.|Thr-rich.				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)		AATGGTGCCTGTTGGCATTGA	0.582																																																0													502	480	488					11																	1017180		2202	4286	6488	SO:0001583	missense	4588			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.5621C>T	11.37:g.1017180G>A	ENSP00000406861:p.Thr1874Ile		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.623016	0.28889	.	.	ENSG00000184956	ENST00000421673	T	0.22539	1.95	3.05	1.02	0.19986	.	.	.	.	.	T	0.28928	0.0718	L	0.39898	1.24	0.09310	N	1	P	0.44478	0.836	P	0.58391	0.838	T	0.13019	-1.0525	9	0.51188	T	0.08	.	6.6132	0.22763	0.1151:0.1811:0.7038:0.0	.	1874	Q6W4X9	MUC6_HUMAN	I	1874	ENSP00000406861:T1874I	ENSP00000406861:T1874I	T	-	2	0	MUC6	1007180	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.013000	0.12678	0.118000	0.18165	-0.671000	0.03813	ACA		0.582	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		A	1017180	G	A	1017180	3	1	756	1	0	0	0	0	1	0	0	0	9982	1377	48	2	1710	2	MUC6	11	1017180	Missense_Mutation	SNP	G	TCGA-KO-8416-01A-11D-2310-10		1017180	133989336	30	44550											
MUC5B	727897	broad.mit.edu	37	11	1270045	1270045	+	Missense_Mutation	SNP	A	A	C			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr11:1270045A>C	ENST00000529681.1	+	31	11993	c.11935A>C	c.(11935-11937)Acc>Ccc	p.T3979P	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.T3982P	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3979	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)		gctgaccaccaccgccaccac	0.642																																																0													19	27	24					11																	1270045		1254	2834	4088	SO:0001583	missense	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.11935A>C	11.37:g.1270045A>C	ENSP00000436812:p.Thr3979Pro		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	A	8.902	0.956543	0.18507	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637	T;T	0.20332	2.08;2.27	2.84	-0.148	0.13424	.	.	.	.	.	T	0.28034	0.0691	L	0.46157	1.445	0.09310	N	1	D	0.65815	0.995	P	0.56278	0.795	T	0.13602	-1.0503	9	0.87932	D	0	.	6.7891	0.23689	0.809:0.0:0.191:0.0	.	3982	E9PBJ0	.	P	3979;3982;3923	ENSP00000436812:T3979P;ENSP00000415793:T3982P	ENSP00000343037:T3923P	T	+	1	0	MUC5B	1226621	0.000000	0.05858	0.001000	0.08648	0.323000	0.28346	-5.417000	0.00124	0.078000	0.16900	0.248000	0.18094	ACC		0.642	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		C	1270045	A	C	1270045	3	2	756	1	0	0	0	0	1	0	0	0	9981	159	6	5	12066	5	MUC5B	11	1270045	Missense_Mutation	SNP	A	TCGA-KO-8416-01A-11D-2310-10	252865	1270045	133736471	31	44551											
KRTAP5-4	387267	mdanderson.org	37	11	1643255	1643255	+	Silent	SNP	G	G	A			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr11:1643255G>A	ENST00000399682.1	-	1	113	c.69C>T	c.(67-69)ggC>ggT	p.G23G		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	0						keratin filament (GO:0045095)		p.G23G(1)		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)		cagagccacagcccccacagc	0.687																																																1	Substitution - coding silent(1)	kidney(1)											4	8	7					11																	1643255		646	1526	2172	SO:0001819	synonymous_variant	387267			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.69C>T	11.37:g.1643255G>A				Silent	SNP	ENST00000399682.1	37																																																																																					0.687	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000127918.1	NM_001012709		A	1643255	G	A	1643255	2	1	756	1	0	0	0	0	0	0	0	1	8565	958	34	2		2	KRTAP5-4	11	1643255	Silent	SNP	G	TCGA-KO-8416-01A-11D-2310-10	373210	1643255	133363261	32	44552											
ZDHHC13	54503	bcgsc.ca	37	11	19174169	19174169	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr11:19174169A>G	ENST00000446113.2	+	8	932	c.811A>G	c.(811-813)Aca>Gca	p.T271A	ZDHHC13_ENST00000532812.1_3'UTR|ZDHHC13_ENST00000399351.3_Missense_Mutation_p.T141A	NM_019028.2	NP_061901.2	Q8IUH4	ZDH13_HUMAN	zinc finger, DHHC-type containing 13	271					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						TATGCTAAAAACAGAAGCCAA	0.363																																																0													60	58	58					11																	19174169		1802	4056	5858	SO:0001583	missense	54503			AB024495	CCDS44550.1, CCDS44551.1	11p15.1	2013-01-10			ENSG00000177054	ENSG00000177054		"Zinc fingers, DHHC-type", "Ankyrin repeat domain containing"	18413	protein-coding gene	gene with protein product		612815				18794299	Standard	NM_001001483		Approved	FLJ10852, FLJ10941, HIP14L	uc001mpi.3	Q8IUH4	OTTHUMG00000166099	ENST00000446113.2:c.811A>G	11.37:g.19174169A>G	ENSP00000400113:p.Thr271Ala		Q7Z2D3|Q86VK2|Q9NV30|Q9NV99	Missense_Mutation	SNP	ENST00000446113.2	37	CCDS44550.1	.	.	.	.	.	.	.	.	.	.	A	9.311	1.055651	0.19907	.	.	ENSG00000177054	ENST00000446113;ENST00000399351	T;T	0.64085	-0.08;-0.08	5.51	3.18	0.36537	Ankyrin repeat-containing domain (3);	1.062360	0.07154	N	0.849542	T	0.36635	0.0974	N	0.05230	-0.09	0.23210	N	0.998117	B	0.02656	0.0	B	0.04013	0.001	T	0.28996	-1.0026	10	0.10902	T	0.67	-4.7782	5.7177	0.17970	0.673:0.0:0.327:0.0	.	271	Q8IUH4	ZDH13_HUMAN	A	271;141	ENSP00000400113:T271A;ENSP00000382288:T141A	ENSP00000382288:T141A	T	+	1	0	ZDHHC13	19130745	0.000000	0.05858	1.000000	0.80357	0.987000	0.75469	0.106000	0.15354	0.945000	0.37605	0.472000	0.43445	ACA		0.363	ZDHHC13-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387821.1	NM_019028		G	19174169	A	G	19174169	3	3	756	1	0	0	0	0	1	0	0	0	17608	43	2	3	841	3	ZDHHC13	11	19174169	Missense_Mutation	SNP	A	TCGA-KO-8416-01A-11D-2310-10	17530914	19174169	115832347	33	44553											
OR1S2	219958	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	11	57970779	57970779	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr11:57970779G>A	ENST00000302592.6	-	1	874	c.875C>T	c.(874-876)aCt>aTt	p.T292I		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	292						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)				TGTCACCACAGTGAATAGGAC	0.448																																																0													152	142	145					11																	57970779		2201	4296	6497	SO:0001583	missense	219958			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.875C>T	11.37:g.57970779G>A	ENSP00000305469:p.Thr292Ile		Q6IFG5|Q96R85	Missense_Mutation	SNP	ENST00000302592.6	37	CCDS31545.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.457628	0.43634	.	.	ENSG00000197887	ENST00000302592	T	0.00241	8.46	4.75	4.75	0.60458	GPCR, rhodopsin-like superfamily (1);	0.129483	0.35207	N	0.003376	T	0.00468	0.0015	M	0.90198	3.095	0.31600	N	0.652805	P	0.44044	0.825	P	0.46299	0.511	T	0.21759	-1.0236	10	0.72032	D	0.01	.	16.8288	0.85938	0.0:0.0:1.0:0.0	.	292	Q8NGQ3	OR1S2_HUMAN	I	292	ENSP00000305469:T292I	ENSP00000305469:T292I	T	-	2	0	OR1S2	57727355	0.120000	0.22244	0.998000	0.56505	0.443000	0.32047	2.643000	0.46604	2.622000	0.88805	0.655000	0.94253	ACT		0.448	OR1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394703.2	NM_001004459		A	57970779	G	A	57970779	3	1	756	1	0	0	0	0	1	0	0	0	10975	1029	36	2	105	2	OR1S2	11	57970779	Missense_Mutation	SNP	G	TCGA-KO-8416-01A-11D-2310-10	38796610	57970779	77035737	34	44554											
MAML2	84441	mdanderson.org	37	11	95825407	95825407	+	Silent	SNP	C	C	T	rs61901862		TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr11:95825407C>T	ENST00000524717.1	-	2	3072	c.1788G>A	c.(1786-1788)caG>caA	p.Q596Q		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	596					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.Q596Q(1)	CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				gctgctgctgctgctgctgtt	0.532			T	"MECT1, CRTC3"	salivary gland mucoepidermoid																																		Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	1	Substitution - coding silent(1)	kidney(1)											28	35	33					11																	95825407		2119	4148	6267	SO:0001819	synonymous_variant	84441			AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"mastermind (Drosophila)-like 2"			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.1788G>A	11.37:g.95825407C>T			A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Silent	SNP	ENST00000524717.1	37	CCDS44714.1																																																																																				0.532	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1			T	95825407	C	T	95825407	2	4	756	1	0	0	0	0	0	0	0	1	9208	796	28	2		2	MAML2	11	95825407	Silent	SNP	C	TCGA-KO-8416-01A-11D-2310-10	37854628	95825407	39181109	35	44555											
TMPRSS13	84000	mdanderson.org	37	11	117789302	117789302	+	Silent	SNP	C	C	T			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr11:117789302C>T	ENST00000430170.2	-	2	360	c.273G>A	c.(271-273)ccG>ccA	p.P91P	TMPRSS13_ENST00000524993.1_Silent_p.P91P|TMPRSS13_ENST00000445164.2_Silent_p.P91P|TMPRSS13_ENST00000526090.1_Silent_p.P91P|TMPRSS13_ENST00000528626.1_Silent_p.P91P	NM_001244995.1	NP_001231924.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	91	13 X 5 AA repeats of A-S-P-A-[GLQR].|Ala-rich.					blood microparticle (GO:0072562)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		ATGCCAGAGCCGGAGATGCCC	0.627																																																0													59	69	65					11																	117789302		2036	4169	6205	SO:0001819	synonymous_variant	84000			AB048796	CCDS41721.1, CCDS55788.1, CCDS55789.1, CCDS58185.1	11q23	2010-04-13	2005-03-11	2005-03-12	ENSG00000137747	ENSG00000137747		"Serine peptidases / Transmembrane"	29808	protein-coding gene	gene with protein product		610050	"transmembrane protease, serine 11"	TMPRSS11		11267681	Standard	NM_001077263		Approved	MSPL	uc001prs.2	Q9BYE2	OTTHUMG00000166992	ENST00000430170.2:c.273G>A	11.37:g.117789302C>T			B4DTM9|E9PIJ5|F8WAJ3|Q86YM4|Q96JY8|Q9BYE1	Silent	SNP	ENST00000430170.2	37	CCDS58185.1																																																																																				0.627	TMPRSS13-006	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000392318.1	NM_032046		T	117789302	C	T	117789302	2	4	756	1	0	0	0	0	0	0	0	1	16250	639	23	1		1	TMPRSS13	11	117789302	Silent	SNP	C	TCGA-KO-8416-01A-11D-2310-10	21963895	117789302	17217214	36	44556											
ROBO3	64221	mdanderson.org	37	11	124750455	124750455	+	Missense_Mutation	SNP	G	G	A	rs200255001|rs199686375		TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr11:124750455G>A	ENST00000397801.1	+	27	4292	c.4100G>A	c.(4099-4101)cGg>cAg	p.R1367Q	ROBO3_ENST00000525482.1_3'UTR|ROBO3_ENST00000538940.1_Missense_Mutation_p.R1345Q|ROBO3_ENST00000543966.1_Missense_Mutation_p.R130Q	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	1367					axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)		p.R1367Q(1)		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)		agccggagtcggagtcagagc	0.657													-|||	1	0.000199681	0.0	0.0	5008	,	,		15316	0.0		0.0	False		,,,				2504	0.001															1	Substitution - Missense(1)	central_nervous_system(1)											14	22	19					11																	124750455		2003	4113	6116	SO:0001583	missense	64221			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.4100G>A	11.37:g.124750455G>A	ENSP00000380903:p.Arg1367Gln			Missense_Mutation	SNP	ENST00000397801.1	37	CCDS44755.1	.	.	.	.	.	.	.	.	.	.	-	9.957	1.221827	0.22457	.	.	ENSG00000154134	ENST00000397801;ENST00000538940;ENST00000543966	T;T;T	0.63744	-0.06;-0.05;0.9	.	.	.	.	2.111980	0.03039	N	0.153117	T	0.44414	0.1292	N	0.22421	0.69	0.25439	N	0.98812	B	0.11235	0.004	B	0.01281	0.0	T	0.13548	-1.0505	9	0.26408	T	0.33	.	3.585	0.07967	0.0:0.5:0.5:0.0	.	1367	Q96MS0	ROBO3_HUMAN	Q	1367;1345;130	ENSP00000380903:R1367Q;ENSP00000441797:R1345Q;ENSP00000438799:R130Q	ENSP00000380903:R1367Q	R	+	2	0	ROBO3	124255665	0.941000	0.31946	0.996000	0.52242	0.523000	0.34469	-0.157000	0.10085	-0.000000	0.14550	0.000000	0.15137	CGG		0.657	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663		A	124750455	G	A	124750455	3	1	756	1	0	0	0	0	1	0	0	0	13521	1116	39	1	4206	1	ROBO3	11	124750455	Missense_Mutation	SNP	G	TCGA-KO-8416-01A-11D-2310-10	6961153	124750455	10256061	37	44557											
ARHGAP32	9743	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	11	128840231	128840231	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr11:128840231T>C	ENST00000310343.9	-	22	4834	c.4835A>G	c.(4834-4836)tAc>tGc	p.Y1612C	ARHGAP32_ENST00000392657.3_Missense_Mutation_p.Y1263C|ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.Y1263C	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1612	Interaction with GAB2.				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						TCTTGGGCAGTAGGCTGGCTC	0.532																																																0													89	82	84					11																	128840231		2201	4297	6498	SO:0001583	missense	9743			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.4835A>G	11.37:g.128840231T>C	ENSP00000310561:p.Tyr1612Cys		I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	T	15.25	2.779073	0.49891	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000527272	T;T;T	0.14144	2.55;2.53;2.53	5.66	4.47	0.54385	.	0.256463	0.39759	N	0.001266	T	0.24314	0.0589	M	0.62723	1.935	0.34814	D	0.738056	D	0.63880	0.993	P	0.53185	0.72	T	0.34650	-0.9820	10	0.72032	D	0.01	.	10.8803	0.46935	0.2372:0.0:0.0:0.7628	.	1612	A7KAX9	RHG32_HUMAN	C	1612;1263;1263	ENSP00000310561:Y1612C;ENSP00000376425:Y1263C;ENSP00000432862:Y1263C	ENSP00000310561:Y1612C	Y	-	2	0	ARHGAP32	128345441	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.416000	0.44644	2.156000	0.67533	0.533000	0.62120	TAC		0.532	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		C	128840231	T	C	128840231	3	2	756	1	0	0	0	0	1	0	0	0	881	1638	57	3	1432	3	ARHGAP32	11	128840231	Missense_Mutation	SNP	T	TCGA-KO-8416-01A-11D-2310-10	4089776	128840231	6166285	38	44558											
CLECL1	160365	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	12	9885606	9885606	+	Silent	SNP	G	G	A			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr12:9885606G>A	ENST00000327839.3	-	1	289	c.255C>T	c.(253-255)taC>taT	p.Y85Y		NM_172004.3	NP_742001.1	Q8IZS7	CLCL1_HUMAN	C-type lectin-like 1	85						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|kidney(1)|large_intestine(4)|lung(3)	9						TGATGTCAGCGTAGACTACAT	0.428																																																0													81	83	82					12																	9885606		2203	4300	6503	SO:0001819	synonymous_variant	160365			AF518873	CCDS8603.1, CCDS73441.1	12p13.31	2007-06-21				ENSG00000184293			24462	protein-coding gene	gene with protein product	"dendritic cell associated lectin 1"	607467				12421943	Standard	NM_172004		Approved	DCAL1	uc001qwi.3	Q8IZS7		ENST00000327839.3:c.255C>T	12.37:g.9885606G>A				Silent	SNP	ENST00000327839.3	37	CCDS8603.1	.	.	.	.	.	.	.	.	.	.	G	3.107	-0.183527	0.06340	.	.	ENSG00000184293	ENST00000542530	.	.	.	1.99	0.826	0.18829	.	.	.	.	.	T	0.23806	0.0576	.	.	.	0.23150	N	0.99822	.	.	.	.	.	.	T	0.23762	-1.0179	4	.	.	.	.	3.7836	0.08690	0.8053:0.0:0.1947:0.0	.	.	.	.	M	37	.	.	T	-	2	0	CLECL1	9776873	0.623000	0.27094	0.135000	0.22099	0.139000	0.21198	0.228000	0.17814	0.226000	0.20979	-0.255000	0.11280	ACG		0.428	CLECL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399815.1	NM_172004		A	9885606	G	A	9885606	2	1	756	1	0	0	0	0	0	0	0	1	3525	1140	40	1		1	CLECL1	12	9885606	Silent	SNP	G	TCGA-KO-8416-01A-11D-2310-10		9885606	123966289	39	44559											
FMNL3	91010	broad.mit.edu	37	12	50045190	50045190	+	Silent	SNP	A	A	T			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr12:50045190A>T	ENST00000293590.5	-	15	1880	c.1647T>A	c.(1645-1647)tcT>tcA	p.S549S	FMNL3_ENST00000550488.1_Silent_p.S549S|FMNL3_ENST00000335154.5_Silent_p.S549S|FMNL3_ENST00000352151.5_Silent_p.S498S			Q8IVF7	FMNL3_HUMAN	formin-like 3	549					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						TCAACACCACAGAGGGTGCAG	0.607																																																0													28	31	30					12																	50045190		1957	4153	6110	SO:0001819	synonymous_variant	91010			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.1647T>A	12.37:g.50045190A>T			B0JZA7|Q6ZRJ1	Silent	SNP	ENST00000293590.5	37																																																																																					0.607	FMNL3-201	KNOWN	basic	protein_coding	protein_coding		NM_175736		T	50045190	A	T	50045190	2	4	756	1	0	0	0	0	0	0	0	1	5955	175	7	5		5	FMNL3	12	50045190	Silent	SNP	A	TCGA-KO-8416-01A-11D-2310-10	40159584	50045190	83806705	40	44560											
PXN	5829	broad.mit.edu	37	12	120662127	120662127	+	Missense_Mutation	SNP	C	C	A	rs202176482		TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr12:120662127C>A	ENST00000228307.7	-	2	208	c.67G>T	c.(67-69)Gtg>Ttg	p.V23L	PXN_ENST00000424649.2_Missense_Mutation_p.V23L|PXN_ENST00000267257.7_Missense_Mutation_p.V23L|PXN_ENST00000538144.1_5'UTR|PXN_ENST00000458477.2_5'UTR|PXN_ENST00000536957.1_Missense_Mutation_p.V21L	NM_001080855.2	NP_001074324.1	P49023	PAXI_HUMAN	paxillin	23					activation of MAPK activity (GO:0000187)|branching morphogenesis of an epithelial tube (GO:0048754)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|growth hormone receptor signaling pathway (GO:0060396)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|muscle contraction (GO:0006936)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of cell shape (GO:0008360)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	beta-catenin binding (GO:0008013)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GACAAGAACACAGGCCGTTTG	0.622																																																0													56	64	61					12																	120662127		1999	4147	6146	SO:0001583	missense	5829			U14588	CCDS44996.1, CCDS44997.1, CCDS44998.1, CCDS58281.1	12q24	2006-01-23			ENSG00000089159	ENSG00000089159			9718	protein-coding gene	gene with protein product		602505				7534286	Standard	NM_001080855		Approved		uc001txv.3	P49023	OTTHUMG00000169169	ENST00000228307.7:c.67G>T	12.37:g.120662127C>A	ENSP00000228307:p.Val23Leu		B2RAI3|B7ZMB4|O14970|O14971|O60360|Q5HYA4	Missense_Mutation	SNP	ENST00000228307.7	37	CCDS44997.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.379542	0.61845	.	.	ENSG00000089159	ENST00000228307;ENST00000424649;ENST00000536957;ENST00000267257;ENST00000543331	T;T;T;T;T	0.54866	0.57;0.55;0.61;0.55;0.62	5.44	4.55	0.56014	.	0.125619	0.52532	D	0.000069	T	0.32734	0.0839	N	0.11560	0.145	0.80722	D	1	B;B	0.09022	0.001;0.002	B;B	0.14023	0.007;0.01	T	0.11084	-1.0602	10	0.19147	T	0.46	-13.2736	14.4703	0.67512	0.0:0.9281:0.0:0.0719	.	23;23	P49023-2;P49023	.;PAXI_HUMAN	L	23;23;21;23;24	ENSP00000228307:V23L;ENSP00000391283:V23L;ENSP00000443887:V21L;ENSP00000267257:V23L;ENSP00000443745:V24L	ENSP00000228307:V23L	V	-	1	0	PXN	119146510	0.996000	0.38824	0.990000	0.47175	0.987000	0.75469	3.301000	0.51842	2.559000	0.86315	0.591000	0.81541	GTG		0.622	PXN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402679.4	NM_002859		A	120662127	C	A	120662127	3	1	756	1	0	0	0	0	1	0	0	0	12858	478	17	4	1752	4	PXN	12	120662127	Missense_Mutation	SNP	C	TCGA-KO-8416-01A-11D-2310-10	70616937	120662127	13189768	41	44561											
CAMKK2	10645	ucsc.edu	37	12	121678593	121678593	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr12:121678593C>T	ENST00000324774.5	-	17	2504	c.1676G>A	c.(1675-1677)aGt>aAt	p.S559N	CAMKK2_ENST00000337174.3_3'UTR|CAMKK2_ENST00000404169.3_Missense_Mutation_p.S559N|CAMKK2_ENST00000545538.1_Intron|CAMKK2_ENST00000347034.2_Missense_Mutation_p.S516N|CAMKK2_ENST00000402834.4_Missense_Mutation_p.S559N|CAMKK2_ENST00000392474.2_Intron|CAMKK2_ENST00000412367.2_3'UTR|CAMKK2_ENST00000538733.1_3'UTR	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	559					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)					CACGCAGGGACTGCCTCTCAC	0.677																																																0													26	31	29					12																	121678593		2203	4299	6502	SO:0001583	missense	10645			AF101264	CCDS9216.1, CCDS9217.1, CCDS9218.1, CCDS9219.1, CCDS44999.1, CCDS53837.1, CCDS58283.1	12q24.2	2002-08-13				ENSG00000110931			1470	protein-coding gene	gene with protein product		615002				9662074	Standard	NM_172226		Approved	CAMKK, KIAA0787, CAMKKB, MGC15254	uc001tzu.3	Q96RR4		ENST00000324774.5:c.1676G>A	12.37:g.121678593C>T	ENSP00000312741:p.Ser559Asn		A8K7Q7|O94883|Q8IUG2|Q8IUG3|Q8N3I4|Q8WY03|Q8WY04|Q8WY05|Q8WY06|Q96RP1|Q96RP2|Q96RR3|Q9BWE9|Q9UER3|Q9UES2|Q9Y5N2	Missense_Mutation	SNP	ENST00000324774.5	37	CCDS9216.1	.	.	.	.	.	.	.	.	.	.	C	10.53	1.376530	0.24857	.	.	ENSG00000110931	ENST00000347034;ENST00000324774;ENST00000404169	T;T;T	0.73363	-0.71;-0.74;-0.74	5.47	5.47	0.80525	.	.	.	.	.	T	0.58090	0.2098	N	0.22421	0.69	0.42015	D	0.990956	B;B	0.13594	0.008;0.005	B;B	0.13407	0.009;0.004	T	0.53606	-0.8415	9	0.27785	T	0.31	0.0303	8.3402	0.32239	0.0:0.8324:0.0:0.1676	.	516;559	Q96RR4-4;Q96RR4	.;KKCC2_HUMAN	N	516;559;559	ENSP00000321230:S516N;ENSP00000312741:S559N;ENSP00000384600:S559N	ENSP00000312741:S559N	S	-	2	0	CAMKK2	120162976	0.000000	0.05858	0.034000	0.17996	0.002000	0.02628	-0.015000	0.12634	2.748000	0.94277	0.655000	0.94253	AGT		0.677	CAMKK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402563.1	NM_172226		T	121678593	C	T	121678593	3	4	756	1	0	0	0	0	1	0	0	0	2609	565	20	2	94	2	CAMKK2	12	121678593	Missense_Mutation	SNP	C	TCGA-KO-8416-01A-11D-2310-10	1016466	121678593	12173302	42	44562											
HOMEZ	57594	mdanderson.org	37	14	23744823	23744823	+	Missense_Mutation	SNP	A	A	T	rs3208861	byFrequency	TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr14:23744823A>T	ENST00000357460.5	-	2	1778	c.1614T>A	c.(1612-1614)gaT>gaA	p.D538E	HOMEZ_ENST00000431326.2_Missense_Mutation_p.D540E|HOMEZ_ENST00000561013.1_Missense_Mutation_p.D540E	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	538	Poly-Asp.			D -> E (in Ref. 5; AAI30393). {ECO:0000305}.|Missing (in Ref. 3; BAG63992). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		catcatcatcatcttcctcct	0.473																																																0													38	39	38					14																	23744823		2191	4254	6445	SO:0001583	missense	57594			AB037864	CCDS45085.1	14q11.2	2011-06-20	2007-02-15	2007-02-15		ENSG00000215271		"Homeoboxes / ZF class"	20164	protein-coding gene	gene with protein product		608119	"KIAA1443"	KIAA1443		12925734	Standard	NM_020834		Approved		uc001wja.2	Q8IX15		ENST00000357460.5:c.1614T>A	14.37:g.23744823A>T	ENSP00000350049:p.Asp538Glu		A1L445|B4DZ80|F8WCA3|Q6P049|Q86XB6|Q9P2A5	Missense_Mutation	SNP	ENST00000357460.5	37	CCDS45085.1	.	.	.	.	.	.	.	.	.	.	A	0.003	-2.558686	0.00136	.	.	ENSG00000215271	ENST00000357460;ENST00000431326	T;T	0.70631	-0.5;-0.5	.	.	.	Armadillo-like helical (1);	.	.	.	.	T	0.40522	0.1120	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	0.33752	-0.9856	7	0.02654	T	1	.	.	.	.	rs3208861	540;538	F8WCA3;Q8IX15	.;HOMEZ_HUMAN	E	538;540	ENSP00000350049:D538E;ENSP00000406579:D540E	ENSP00000350049:D538E	D	-	3	2	HOMEZ	22814663	0.164000	0.22935	0.167000	0.22817	0.037000	0.13140	-2.011000	0.01452	-1.137000	0.02888	-1.213000	0.01624	GAT		0.473	HOMEZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000416939.2	NM_020834		T	23744823	A	T	23744823	3	4	756	1	0	0	0	0	1	0	0	0	7283	214	8	5	42	5	HOMEZ	14	23744823	Missense_Mutation	SNP	A	TCGA-KO-8416-01A-11D-2310-10		23744823	83604717	43	44563	464	2									
HOMEZ	57594	mdanderson.org	37	14	23744826	23744826	+	Silent	SNP	T	T	C	rs35076736|rs76331664|rs67447855	byFrequency	TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr14:23744826T>C	ENST00000357460.5	-	2	1775	c.1611A>G	c.(1609-1611)gaA>gaG	p.E537E	HOMEZ_ENST00000431326.2_Silent_p.E539E|HOMEZ_ENST00000561013.1_Silent_p.E539E	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	537	Poly-Asp.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		catcatcatcttcctcctcct	0.483																																																0													39	39	39					14																	23744826		2192	4262	6454	SO:0001819	synonymous_variant	57594			AB037864	CCDS45085.1	14q11.2	2011-06-20	2007-02-15	2007-02-15		ENSG00000215271		"Homeoboxes / ZF class"	20164	protein-coding gene	gene with protein product		608119	"KIAA1443"	KIAA1443		12925734	Standard	NM_020834		Approved		uc001wja.2	Q8IX15		ENST00000357460.5:c.1611A>G	14.37:g.23744826T>C			A1L445|B4DZ80|F8WCA3|Q6P049|Q86XB6|Q9P2A5	Silent	SNP	ENST00000357460.5	37	CCDS45085.1																																																																																				0.483	HOMEZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000416939.2	NM_020834		C	23744826	T	C	23744826	2	2	756	1	0	0	0	0	0	0	0	1	7283	1606	56	3		3	HOMEZ	14	23744826	Silent	SNP	T	TCGA-KO-8416-01A-11D-2310-10	3	23744826	83604714	44	44564	464	2									
MAGEL2	54551	hgsc.bcm.edu	37	15	23890897	23890897	+	Missense_Mutation	SNP	G	G	T			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr15:23890897G>T	ENST00000532292.1	-	1	278	c.184C>A	c.(184-186)Ccc>Acc	p.P62T		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	0					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		GCCTGCTGGGGGGGTAGCTGG	0.701																																																0													6	8	7					15																	23890897		1843	4012	5855	SO:0001583	missense	54551			AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.184C>A	15.37:g.23890897G>T	ENSP00000433433:p.Pro62Thr			Missense_Mutation	SNP	ENST00000532292.1	37																																																																																					0.701	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	NM_019066		T	23890897	G	T	23890897	3	4	756	1	0	0	0	0	1	0	0	0	9191	1232	43	4	1760	4	MAGEL2	15	23890897	Missense_Mutation	SNP	G	TCGA-KO-8416-01A-11D-2310-10		23890897	78640495	45	44565											
HERC2	8924	broad.mit.edu;mdanderson.org	37	15	28456246	28456246	+	Missense_Mutation	SNP	T	T	A			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr15:28456246T>A	ENST00000261609.7	-	44	7079	c.6971A>T	c.(6970-6972)tAc>tTc	p.Y2324F		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)		TTTCAGGATGTATAGCTTCAA	0.582																																																0													49	46	47					15																	28456246		2202	4298	6500	SO:0001583	missense	8924			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.6971A>T	15.37:g.28456246T>A	ENSP00000261609:p.Tyr2324Phe			Missense_Mutation	SNP	ENST00000261609.7	37	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	T	15.54	2.862647	0.51482	.	.	ENSG00000128731	ENST00000261609	T	0.37752	1.18	4.84	3.72	0.42706	.	0.068466	0.64402	D	0.000012	T	0.49236	0.1545	L	0.51422	1.61	0.58432	D	0.999996	P	0.52842	0.956	D	0.65010	0.931	T	0.44174	-0.9345	10	0.54805	T	0.06	.	10.4591	0.44567	0.0:0.0766:0.0:0.9234	.	2324	O95714	HERC2_HUMAN	F	2324	ENSP00000261609:Y2324F	ENSP00000261609:Y2324F	Y	-	2	0	HERC2	26129841	1.000000	0.71417	0.994000	0.49952	0.534000	0.34807	6.123000	0.71614	0.872000	0.35775	0.459000	0.35465	TAC		0.582	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		A	28456246	T	A	28456246	3	1	756	1	0	0	0	0	1	0	0	0	7060	1638	57	5	7733	5	HERC2	15	28456246	Missense_Mutation	SNP	T	TCGA-KO-8416-01A-11D-2310-10	4565349	28456246	74075146	46	44566											
ZFYVE19	84936	mdanderson.org	37	15	41099910	41099910	+	Silent	SNP	A	A	G	rs62018606		TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr15:41099910A>G	ENST00000355341.4	+	1	624	c.123A>G	c.(121-123)gcA>gcG	p.A41A	ZFYVE19_ENST00000336455.5_Intron|ZFYVE19_ENST00000564258.1_Intron|ZFYVE19_ENST00000299173.10_Silent_p.A41A|ZFYVE19_ENST00000570108.1_Intron|DNAJC17_ENST00000220496.4_5'Flank|ZFYVE19_ENST00000563530.1_3'UTR	NM_001077268.1	NP_001070736.1	Q96K21	ANCHR_HUMAN	zinc finger, FYVE domain containing 19	41					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)		Ggggcggggcagggcagggaa	0.716																																																0													16	22	20					15																	41099910		1992	4147	6139	SO:0001819	synonymous_variant	84936			AK027746	CCDS42025.1, CCDS58353.1, CCDS58354.1, CCDS58355.1	15q14	2008-05-02				ENSG00000166140		"Zinc fingers, FYVE domain containing"	20758	protein-coding gene	gene with protein product							Standard	NM_001077268		Approved	FLJ14840	uc031qrk.1	Q96K21		ENST00000355341.4:c.123A>G	15.37:g.41099910A>G			B3KVB2|C9JNF4|H3BUF9|Q86WC2|Q8WU96	Silent	SNP	ENST00000355341.4	37	CCDS42025.1																																																																																				0.716	ZFYVE19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418996.1	NM_032850		G	41099910	A	G	41099910	2	3	756	1	0	0	0	0	0	0	0	1	17670	175	7	3		3	ZFYVE19	15	41099910	Silent	SNP	A	TCGA-KO-8416-01A-11D-2310-10	12643664	41099910	61431482	47	44567											
C15orf59	388135	hgsc.bcm.edu;mdanderson.org	37	15	74032954	74032954	+	Silent	SNP	C	C	T	rs144044826		TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr15:74032954C>T	ENST00000569673.1	-	3	1390	c.186G>A	c.(184-186)tcG>tcA	p.S62S	C15orf59_ENST00000379822.4_Silent_p.S62S|C15orf59_ENST00000558834.1_5'UTR			Q2T9L4	CO059_HUMAN	chromosome 15 open reading frame 59	62										breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						AGTCGAAGTCCGAGGTTAGCT	0.612																																																0								C		0,4396		0,0,2198	149	153	152		186	-9.7	0.9	15	dbSNP_134	152	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous	C15orf59	NM_001039614.1		0,1,6494	TT,TC,CC		0.0116,0.0,0.0077		62/294	74032954	1,12989	2198	4297	6495	SO:0001819	synonymous_variant	388135				CCDS32289.1	15q24.1	2012-09-27			ENSG00000205363	ENSG00000205363			33753	protein-coding gene	gene with protein product							Standard	XM_005254369		Approved	MGC131524, LOC388135	uc002avy.3	Q2T9L4	OTTHUMG00000172556	ENST00000569673.1:c.186G>A	15.37:g.74032954C>T				Silent	SNP	ENST00000569673.1	37	CCDS32289.1																																																																																				0.612	C15orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419077.2	NM_001039614		T	74032954	C	T	74032954	2	4	756	1	0	0	0	0	0	0	0	1	1809	639	23	1		1	C15orf59	15	74032954	Silent	SNP	C	TCGA-KO-8416-01A-11D-2310-10	32933044	74032954	28498438	48	44568											
ADAMTS7	11173	mdanderson.org	37	15	79057989	79057989	+	Missense_Mutation	SNP	C	C	T	rs200769684		TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr15:79057989C>T	ENST00000388820.4	-	19	4474	c.4264G>A	c.(4264-4266)Gag>Aag	p.E1422K	ADAMTS7_ENST00000566303.1_5'Flank	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1422	TSP type-1 5. {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)	p.E1422K(3)		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						CCACTTGCCTCGCTCCAGTTT	0.657																																																3	Substitution - Missense(3)	skin(2)|NS(1)											31	34	33					15																	79057989		2188	4275	6463	SO:0001583	missense	11173			AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"ADAM metallopeptidases with thrombospondin type 1 motif"	223	protein-coding gene	gene with protein product	"COMPase", "a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"	605009	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.4264G>A	15.37:g.79057989C>T	ENSP00000373472:p.Glu1422Lys		Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	c	8.994	0.978370	0.18812	.	.	ENSG00000136378	ENST00000388820	T	0.54279	0.58	4.21	-8.41	0.00961	.	0.609972	0.15843	N	0.241932	T	0.35248	0.0925	L	0.51914	1.62	0.19775	N	0.999954	B	0.14012	0.009	B	0.10450	0.005	T	0.45483	-0.9258	10	0.07325	T	0.83	.	13.64	0.62243	0.0:0.6736:0.1359:0.1905	.	1422	Q9UKP4	ATS7_HUMAN	K	1422	ENSP00000373472:E1422K	ENSP00000373472:E1422K	E	-	1	0	ADAMTS7	76845044	0.010000	0.17322	0.706000	0.30403	0.289000	0.27227	-0.206000	0.09398	-1.547000	0.01715	-2.551000	0.00177	GAG		0.657	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		T	79057989	C	T	79057989	3	4	756	1	0	0	0	0	1	0	0	0	271	893	31	1	820	1	ADAMTS7	15	79057989	Missense_Mutation	SNP	C	TCGA-KO-8416-01A-11D-2310-10	5025035	79057989	23473403	49	44569											
ANPEP	290	bcgsc.ca	37	15	90349234	90349234	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr15:90349234T>C	ENST00000300060.6	-	2	894	c.581A>G	c.(580-582)tAc>tGc	p.Y194C		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	194	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)	CTCGCTGCGGTAGAAGCCCGC	0.612																																					NSCLC(30;827 977 2459 19669 26125)											0													88	82	84					15																	90349234		2200	4299	6499	SO:0001583	missense	290			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.581A>G	15.37:g.90349234T>C	ENSP00000300060:p.Tyr194Cys		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Missense_Mutation	SNP	ENST00000300060.6	37	CCDS10356.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.257356	0.80246	.	.	ENSG00000166825	ENST00000300060	T	0.07114	3.22	4.8	4.8	0.61643	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.45716	0.1356	H	0.98965	4.385	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	T	0.66085	-0.6011	10	0.87932	D	0	.	12.3003	0.54870	0.0:0.0:0.0:1.0	.	194	P15144	AMPN_HUMAN	C	194	ENSP00000300060:Y194C	ENSP00000300060:Y194C	Y	-	2	0	ANPEP	88150238	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	6.099000	0.71466	1.794000	0.52575	0.460000	0.39030	TAC		0.612	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1			C	90349234	T	C	90349234	3	2	756	1	0	0	0	0	1	0	0	0	710	1638	57	3	2402	3	ANPEP	15	90349234	Missense_Mutation	SNP	T	TCGA-KO-8416-01A-11D-2310-10	11291245	90349234	12182158	50	44570											
ZNF319	57567	broad.mit.edu;hgsc.bcm.edu	37	16	58030679	58030679	+	Silent	SNP	G	G	A	rs372922346		TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr16:58030679G>A	ENST00000299237.2	-	2	2113	c.1491C>T	c.(1489-1491)taC>taT	p.Y497Y	USB1_ENST00000561743.1_5'Flank	NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	497					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						GGTCTGACGCGTACTTGAAGC	0.617																																																0								G		0,4396		0,0,2198	53	45	48		1491	-6.4	0	16		48	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZNF319	NM_020807.1		0,1,6497	AA,AG,GG		0.0116,0.0,0.0077		497/583	58030679	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	57567			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.1491C>T	16.37:g.58030679G>A			Q52LH8	Silent	SNP	ENST00000299237.2	37	CCDS32462.1																																																																																				0.617	ZNF319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430317.1			A	58030679	G	A	58030679	2	1	756	1	0	0	0	0	0	0	0	1	17842	1140	40	1		1	ZNF319	16	58030679	Silent	SNP	G	TCGA-KO-8416-01A-11D-2310-10		58030679	32324074	51	44571											
FHOD1	29109	bcgsc.ca	37	16	67273272	67273272	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr16:67273272T>C	ENST00000258201.4	-	2	534	c.287A>G	c.(286-288)gAg>gGg	p.E96G		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	96	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				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)		ATAGAAGCCCTCCAGCATCTC	0.582																																																0													91	78	83					16																	67273272		2198	4300	6498	SO:0001583	missense	29109			AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.287A>G	16.37:g.67273272T>C	ENSP00000258201:p.Glu96Gly		Q59F76|Q6Y1F2|Q76MS8|Q8N521	Missense_Mutation	SNP	ENST00000258201.4	37	CCDS10834.1	.	.	.	.	.	.	.	.	.	.	T	19.97	3.925603	0.73213	.	.	ENSG00000135723	ENST00000258201	T	0.25414	1.8	5.0	5.0	0.66597	GTPase-binding/formin homology 3 (1);	0.057492	0.64402	D	0.000002	T	0.34629	0.0904	L	0.47190	1.495	0.80722	D	1	D	0.59767	0.986	P	0.53266	0.722	T	0.10965	-1.0607	10	0.87932	D	0	.	12.5809	0.56390	0.0:0.0:0.0:1.0	.	96	Q9Y613	FHOD1_HUMAN	G	96	ENSP00000258201:E96G	ENSP00000258201:E96G	E	-	2	0	FHOD1	65830773	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.945000	0.75947	2.105000	0.64084	0.533000	0.62120	GAG		0.582	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268844.2			C	67273272	T	C	67273272	3	2	756	1	0	0	0	0	1	0	0	0	5884	1551	54	3	3291	3	FHOD1	16	67273272	Missense_Mutation	SNP	T	TCGA-KO-8416-01A-11D-2310-10	9242593	67273272	23081481	52	44572											
FA2H	79152	mdanderson.org	37	16	74808425	74808425	+	Silent	SNP	G	G	A	rs929881	byFrequency	TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr16:74808425G>A	ENST00000219368.3	-	1	298	c.229C>T	c.(229-231)Ctg>Ttg	p.L77L	FA2H_ENST00000544337.1_5'UTR	NM_024306.4	NP_077282.3	Q7L5A8	FA2H_HUMAN	fatty acid 2-hydroxylase	77	Cytochrome b5 heme-binding. {ECO:0000255|PROSITE-ProRule:PRU00279}.				cell death (GO:0008219)|central nervous system myelin maintenance (GO:0032286)|fatty acid biosynthetic process (GO:0006633)|lipid modification (GO:0030258)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of cell proliferation (GO:0042127)|regulation of hair cycle (GO:0042634)|sebaceous gland cell differentiation (GO:0001949)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	fatty acid alpha-hydroxylase activity (GO:0080132)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						TACTGCTCCAGCCAGCGGCGC	0.761													A|||	1247	0.249002	0.447	0.2046	5008	,	,		11282	0.0377		0.3151	False		,,,				2504	0.1626															0								A		1423,2211		327,769,721	5	6	5		229	2.9	1	16	dbSNP_86	5	2074,5176		390,1294,1941	no	coding-synonymous	FA2H	NM_024306.4		717,2063,2662	AA,AG,GG		28.6069,39.158,32.1297		77/373	74808425	3497,7387	1817	3625	5442	SO:0001819	synonymous_variant	79152			BC002679	CCDS10911.1	16q23	2013-03-04	2003-10-29	2003-10-31	ENSG00000103089	ENSG00000103089		"Fatty acid hydroxylase domain containing"	21197	protein-coding gene	gene with protein product	"fatty acid hydroxylase"	611026	"fatty acid hydroxylase domain containing 1", "spastic paraplegia 35 (autosomal recessive)"	FAXDC1, SPG35		20104589	Standard	NM_024306		Approved	FAAH, FLJ25287	uc002fde.2	Q7L5A8	OTTHUMG00000137603	ENST00000219368.3:c.229C>T	16.37:g.74808425G>A			B7Z8T6|O75213|Q96DK1|Q9H1A5	Silent	SNP	ENST00000219368.3	37	CCDS10911.1																																																																																				0.761	FA2H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269015.2	NM_024306		A	74808425	G	A	74808425	2	1	756	1	0	0	0	0	0	0	0	1	5354	962	34	2		2	FA2H	16	74808425	Silent	SNP	G	TCGA-KO-8416-01A-11D-2310-10	7535153	74808425	15546328	53	44573											
ACSF3	197322	mdanderson.org	37	16	89167138	89167138	+	Missense_Mutation	SNP	G	G	C	rs11547019	byFrequency	TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr16:89167138G>C	ENST00000317447.4	+	3	426	c.49G>C	c.(49-51)Gcg>Ccg	p.A17P	ACSF3_ENST00000406948.3_Missense_Mutation_p.A17P|ACSF3_ENST00000378345.4_Intron	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	17			A -> P (in dbSNP:rs11547019). {ECO:0000269|PubMed:15489334}.		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)		CTGCGCCTTGGCGTCCTGCCG	0.682													G|||	282	0.0563099	0.0015	0.0317	5008	,	,		14874	0.1597		0.0577	False		,,,				2504	0.0399															0								G	PRO/ALA,PRO/ALA	30,4298		0,30,2134	16	18	17		49,49	0.4	0	16	dbSNP_120	17	334,8134		7,320,3907	yes	missense,missense	ACSF3	NM_001127214.2,NM_174917.3	27,27	7,350,6041	CC,CG,GG		3.9443,0.6932,2.8446	benign,benign	17/577,17/577	89167138	364,12432	2164	4234	6398	SO:0001583	missense	197322			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.49G>C	16.37:g.89167138G>C	ENSP00000320646:p.Ala17Pro		A8K4J8|C9JQL6|Q6INA0|Q8N2F7	Missense_Mutation	SNP	ENST00000317447.4	37	CCDS10974.1	150	0.06868131868131869	0	0.0	5	0.013812154696132596	96	0.16783216783216784	49	0.06464379947229551	G	12.21	1.870413	0.33069	0.006932	0.039443	ENSG00000176715	ENST00000317447;ENST00000537290;ENST00000406948	T;T;T	0.57595	0.81;0.39;0.81	5.02	0.452	0.16634	.	1.418140	0.04327	N	0.351700	T	0.00144	0.0004	L	0.48362	1.52	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.04427	-1.0952	10	0.35671	T	0.21	-22.3275	2.9079	0.05727	0.0869:0.3051:0.3296:0.2784	rs11547019	17	Q4G176	ACSF3_HUMAN	P	17	ENSP00000320646:A17P;ENSP00000440734:A17P;ENSP00000384627:A17P	ENSP00000320646:A17P	A	+	1	0	ACSF3	87694639	0.000000	0.05858	0.009000	0.14445	0.070000	0.16714	-0.170000	0.09897	0.149000	0.19098	0.650000	0.86243	GCG		0.682	ACSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269919.1	NM_174917		C	89167138	G	C	89167138	3	2	756	1	0	0	0	0	1	0	0	0	176	1203	42	4	51	4	ACSF3	16	89167138	Missense_Mutation	SNP	G	TCGA-KO-8416-01A-11D-2310-10	14358713	89167138	1187615	54	44574											
USP6	9098	ucsc.edu;mdanderson.org	37	17	5037195	5037195	+	Missense_Mutation	SNP	G	G	A	rs74900103		TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr17:5037195G>A	ENST00000574788.1	+	15	2628	c.398G>A	c.(397-399)aGg>aAg	p.R133K	USP6_ENST00000250066.6_Missense_Mutation_p.R133K|USP6_ENST00000332776.4_Missense_Mutation_p.R133K|USP6_ENST00000304328.5_5'UTR			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	133	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						ATGAAGGAGAGGGGCAAGAGG	0.547			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts																																		Dom	yes		17	17p13	9098	ubiquitin specific peptidase 6 (Tre-2 oncogene)		M	0													185	166	173					17																	5037195		2203	4300	6503	SO:0001583	missense	9098			X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"Ubiquitin-specific peptidases"	12629	protein-coding gene	gene with protein product	"ubiquitin carboxyl-terminal hydrolase 6", "TBC1D3 and USP32 fusion", "Tre-2 oncogene"	604334	"ubiquitin specific protease 6 (Tre-2 oncogene)", "TRE oncogene, Smith Magenis syndrome chromosome region", "ubiquitin specific peptidase 6 (Tre-2 oncogene)"	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.398G>A	17.37:g.5037195G>A	ENSP00000460380:p.Arg133Lys		Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	ENST00000574788.1	37	CCDS11069.2	.	.	.	.	.	.	.	.	.	.	G	0.090	-1.168985	0.01660	.	.	ENSG00000129204	ENST00000332776;ENST00000250066	T;T	0.26373	1.74;1.74	0.862	-1.72	0.08107	Rab-GAP/TBC domain (4);	0.104487	0.64402	N	0.000003	T	0.05135	0.0137	N	0.01576	-0.805	0.34807	D	0.737346	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.40459	-0.9562	10	0.05351	T	0.99	.	2.1908	0.03898	0.3285:0.3345:0.337:0.0	.	133;133	B9A6N0;P35125	.;UBP6_HUMAN	K	133	ENSP00000328010:R133K;ENSP00000250066:R133K	ENSP00000250066:R133K	R	+	2	0	USP6	4977919	0.068000	0.21057	0.092000	0.20876	0.093000	0.18481	0.731000	0.26058	-1.381000	0.02112	-1.368000	0.01194	AGG		0.547	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505		A	5037195	G	A	5037195	3	1	756	1	0	0	0	0	1	0	0	0	17091	1000	35	2	420	2	USP6	17	5037195	Missense_Mutation	SNP	G	TCGA-KO-8416-01A-11D-2310-10		5037195	76158015	55	44575											
TP53	7157	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	17	7578208	7578208	+	Missense_Mutation	SNP	T	T	A			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr17:7578208T>A	ENST00000269305.4	-	6	830	c.641A>T	c.(640-642)cAt>cTt	p.H214L	TP53_ENST00000420246.2_Missense_Mutation_p.H214L|TP53_ENST00000445888.2_Missense_Mutation_p.H214L|TP53_ENST00000455263.2_Missense_Mutation_p.H214L|TP53_ENST00000413465.2_Missense_Mutation_p.H214L|TP53_ENST00000359597.4_Missense_Mutation_p.H214L|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	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)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	98	Substitution - Missense(69)|Deletion - Frameshift(12)|Whole gene deletion(8)|Unknown(5)|Deletion - In frame(3)|Complex - deletion inframe(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)											127	114	119					17																	7578208		2203	4300	6503	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.641A>T	17.37:g.7578208T>A	ENSP00000269305:p.His214Leu		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	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	37	6.001408	0.97189	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	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	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	0.99518	0.9828	L	0.45228	1.405	0.80722	D	1	D;D;B;D;D;D;D	0.89917	1.0;0.996;0.176;0.999;0.997;0.997;0.999	D;D;B;D;D;D;D	0.79108	0.992;0.981;0.088;0.99;0.982;0.989;0.98	D	0.97889	1.0296	10	0.87932	D	0	-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;.;.	L	214;214;214;214;214;214;203;121;82;121;82	ENSP00000410739:H214L;ENSP00000352610:H214L;ENSP00000269305:H214L;ENSP00000398846:H214L;ENSP00000391127:H214L;ENSP00000391478:H214L;ENSP00000425104:H82L;ENSP00000423862:H121L	ENSP00000269305:H214L	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		A	7578208	T	A	7578208	3	1	756	1	0	0	0	0	1	0	0	0	16386	1464	51	5	653	5	TP53	17	7578208	Missense_Mutation	SNP	T	TCGA-KO-8416-01A-11D-2310-10	2541013	7578208	73617002	56	44576	465	2									
TP53	7157	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A	rs397516436		TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	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_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|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	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)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	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)	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)	GRCh37	CM951226	TP53	M							132	118	123					17																	7578212		2203	4300	6503	SO:0001587	stop_gained	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.637C>T	17.37:g.7578212G>A	ENSP00000269305:p.Arg213*		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	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		A	7578212	G	A	7578212	4	1	756	1	0	0	0	0	0	1	0	0	16386	1066	37	1	657	1	TP53	17	7578212	Nonsense_Mutation	SNP	G	TCGA-KO-8416-01A-11D-2310-10	4	7578212	73616998	57	44577	465	2									
MYO15A	51168	ucsc.edu	37	17	18057479	18057479	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr17:18057479T>C	ENST00000205890.5	+	44	8461	c.8123T>C	c.(8122-8124)gTg>gCg	p.V2708A	MYO15A_ENST00000418233.3_5'UTR|MYO15A_ENST00000585180.1_5'UTR	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2708	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)					AGCCATCCTGTGCAGCTTGAC	0.612																																																0													70	81	78					17																	18057479		2074	4222	6296	SO:0001583	missense	51168			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.8123T>C	17.37:g.18057479T>C	ENSP00000205890:p.Val2708Ala		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.753191	0.69648	.	.	ENSG00000091536	ENST00000205890	D	0.87966	-2.32	5.19	5.19	0.71726	.	.	.	.	.	D	0.83348	0.5235	M	0.65677	2.01	0.80722	D	1	P	0.43788	0.817	B	0.36959	0.237	T	0.82806	-0.0275	9	0.37606	T	0.19	.	10.2936	0.43610	0.0:0.0803:0.0:0.9197	.	2708	Q9UKN7	MYO15_HUMAN	A	2708	ENSP00000205890:V2708A	ENSP00000205890:V2708A	V	+	2	0	MYO15A	17998204	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.531000	0.60602	1.952000	0.56665	0.460000	0.39030	GTG		0.612	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		C	18057479	T	C	18057479	3	2	756	1	0	0	0	0	1	0	0	0	10065	1696	59	3	8289	3	MYO15A	17	18057479	Missense_Mutation	SNP	T	TCGA-KO-8416-01A-11D-2310-10	10479267	18057479	63137731	58	44578											
ENOSF1	55556	mdanderson.org	37	18	712568	712568	+	Missense_Mutation	SNP	G	G	A	rs3786349	byFrequency	TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr18:712568G>A	ENST00000251101.7	-	1	108	c.20C>T	c.(19-21)tCc>tTc	p.S7F	ENOSF1_ENST00000580982.1_Missense_Mutation_p.S7F|ENOSF1_ENST00000539164.1_Missense_Mutation_p.S7F|ENOSF1_ENST00000383578.3_5'UTR|ENOSF1_ENST00000340116.7_5'Flank	NM_017512.5	NP_059982.2	Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1	7					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						CGAGAGCCGGGAGATCCTGCC	0.766													G|||	601	0.120008	0.0265	0.0778	5008	,	,		9725	0.2748		0.1412	False		,,,				2504	0.0951															0								G	,PHE/SER	105,3179		1,103,1538	5	5	5		,20	-1.5	0	18	dbSNP_107	5	546,5710		15,516,2597	no	utr-5,missense	ENOSF1	NM_001126123.3,NM_017512.5	,155	16,619,4135	AA,AG,GG		8.7276,3.1973,6.8239	,benign	,7/444	712568	651,8889	1642	3128	4770	SO:0001583	missense	55556			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.20C>T	18.37:g.712568G>A	ENSP00000251101:p.Ser7Phe		A6NMP3|A8K9R5|B3KSL6|B3KXE4|D3DUH0|Q15407|Q15594|Q15595|Q6ZS08|Q9HAS5|Q9HAS6	Missense_Mutation	SNP	ENST00000251101.7	37	CCDS11822.1	329	0.15064102564102563	28	0.056910569105691054	34	0.09392265193370165	161	0.28146853146853146	106	0.13984168865435356	G	10.32	1.318029	0.23994	0.031973	0.087276	ENSG00000132199	ENST00000251101;ENST00000539164	T;T	0.42131	0.98;0.98	4.19	-1.5	0.08691	.	.	.	.	.	T	0.00012	0.0000	L	0.36672	1.1	0.80722	P	0.0	B	0.30455	0.28	B	0.25506	0.061	T	0.26018	-1.0115	8	0.42905	T	0.14	.	10.165	0.42875	0.083:0.5405:0.3765:0.0	rs3786349	7	Q7L5Y1	ENOF1_HUMAN	F	7	ENSP00000251101:S7F;ENSP00000446321:S7F	ENSP00000251101:S7F	S	-	2	0	ENOSF1	702568	0.079000	0.21365	0.023000	0.16930	0.684000	0.39900	0.057000	0.14279	-0.433000	0.07286	0.313000	0.20887	TCC		0.766	ENOSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254312.2	NM_017512		A	712568	G	A	712568	3	1	756	1	0	0	0	0	1	0	0	0	5127	1174	41	2	1519	2	ENOSF1	18	712568	Missense_Mutation	SNP	G	TCGA-KO-8416-01A-11D-2310-10		712568	77364680	59	44579											
CTDP1	9150	broad.mit.edu	37	18	77477838	77477838	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr18:77477838C>T	ENST00000299543.7	+	10	2386	c.2239C>T	c.(2239-2241)Cgg>Tgg	p.R747W	CTDP1_ENST00000075430.7_Missense_Mutation_p.R747W	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	747					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)		CTTTCCCGACCGGGAGGGTGT	0.667																																																0													38	44	42					18																	77477838		2203	4300	6503	SO:0001583	missense	9150			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.2239C>T	18.37:g.77477838C>T	ENSP00000299543:p.Arg747Trp		A8MY97|Q7Z644|Q96BZ1|Q9Y6F5	Missense_Mutation	SNP	ENST00000299543.7	37	CCDS12017.1	.	.	.	.	.	.	.	.	.	.	C	13.32	2.202466	0.38905	.	.	ENSG00000060069	ENST00000299543;ENST00000075430	T;T	0.48522	0.81;0.81	5.22	2.76	0.32466	FCP1-like phosphatase, C-terminal (1);	0.476726	0.24289	N	0.039825	T	0.58694	0.2140	L	0.50333	1.59	0.30776	N	0.742543	D;D;D	0.76494	0.999;0.999;0.999	P;P;D	0.65443	0.893;0.893;0.935	T	0.62324	-0.6878	10	0.66056	D	0.02	-37.4624	11.866	0.52493	0.7087:0.2913:0.0:0.0	.	628;747;747	Q9Y5B0-3;Q9Y5B0-4;Q9Y5B0	.;.;CTDP1_HUMAN	W	747	ENSP00000299543:R747W;ENSP00000075430:R747W	ENSP00000075430:R747W	R	+	1	2	CTDP1	75578826	1.000000	0.71417	0.564000	0.28396	0.064000	0.16182	2.452000	0.44961	0.276000	0.22118	-0.457000	0.05445	CGG		0.667	CTDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256432.1	NM_004715		T	77477838	C	T	77477838	3	4	756	1	0	0	0	0	1	0	0	0	4004	643	23	1	2277	1	CTDP1	18	77477838	Missense_Mutation	SNP	C	TCGA-KO-8416-01A-11D-2310-10	76765270	77477838	599410	60	44580											
SBNO2	22904	ucsc.edu;bcgsc.ca	37	19	1116843	1116843	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr19:1116843A>G	ENST00000361757.3	-	16	2024	c.1787T>C	c.(1786-1788)tTc>tCc	p.F596S	SBNO2_ENST00000587024.1_Missense_Mutation_p.F586S|SBNO2_ENST00000438103.2_Missense_Mutation_p.F539S	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	596					bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCGAGACGAAGCAGTTGAG	0.677																																																0													35	42	40					19																	1116843		2167	4255	6422	SO:0001583	missense	22904			AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"KIAA0963"	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000361757.3:c.1787T>C	19.37:g.1116843A>G	ENSP00000354733:p.Phe596Ser		A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Missense_Mutation	SNP	ENST00000361757.3	37	CCDS45894.1	.	.	.	.	.	.	.	.	.	.	A	16.51	3.142945	0.57044	.	.	ENSG00000064932	ENST00000361757;ENST00000438103;ENST00000250872	.	.	.	4.18	4.18	0.49190	.	0.000000	0.85682	D	0.000000	T	0.81240	0.4781	M	0.90705	3.14	0.58432	D	0.999999	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.994;0.998;0.999	D	0.84066	0.0377	9	0.49607	T	0.09	-26.5993	12.8397	0.57794	1.0:0.0:0.0:0.0	.	596;596;539	B4DV91;Q9Y2G9;Q9Y2G9-3	.;SBNO2_HUMAN;.	S	596;539;620	.	ENSP00000250872:F620S	F	-	2	0	SBNO2	1067843	1.000000	0.71417	0.997000	0.53966	0.026000	0.11368	8.873000	0.92357	1.879000	0.54435	0.460000	0.39030	TTC		0.677	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	NM_014963		G	1116843	A	G	1116843	3	3	756	1	0	0	0	0	1	0	0	0	13869	246	9	3	2381	3	SBNO2	19	1116843	Missense_Mutation	SNP	A	TCGA-KO-8416-01A-11D-2310-10		1116843	58012140	61	44581											
S1PR2	9294	mdanderson.org	37	19	10334663	10334663	+	Silent	SNP	T	T	G	rs2116942	byFrequency	TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr19:10334663T>G	ENST00000590320.1	-	2	1029	c.919A>C	c.(919-921)Agg>Cgg	p.R307R	CTD-2369P2.2_ENST00000317726.4_lincRNA	NM_004230.3	NP_004221.3	O95136	S1PR2_HUMAN	sphingosine-1-phosphate receptor 2	307					activation of MAPK activity (GO:0000187)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of endothelial barrier (GO:1903142)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|integrin binding (GO:0005178)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						ACCCCCGGCCTCCAGCACTGC	0.706													G|||	2764	0.551917	0.7678	0.4568	5008	,	,		9629	0.3095		0.5895	False		,,,				2504	0.5389				Pancreas(194;229 3020 15179 45747)											0								G		3127,1219		1156,815,202	15	18	17		919	1.6	0.4	19	dbSNP_96	17	5012,3506		1509,1994,756	no	coding-synonymous	S1PR2	NM_004230.3		2665,2809,958	GG,GT,TT		41.1599,28.0488,36.7304		307/354	10334663	8139,4725	2173	4259	6432	SO:0001819	synonymous_variant	9294			AF034780	CCDS12229.1	19q13	2013-03-13	2008-04-30	2008-04-30	ENSG00000267534	ENSG00000267534		"GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"	3169	protein-coding gene	gene with protein product		605111	"endothelial differentiation, sphingolipid G-protein-coupled receptor, 5"	EDG5		8087418, 8878560	Standard	NM_004230		Approved	Gpcr13, H218, AGR16	uc002mnl.2	O95136	OTTHUMG00000180399	ENST00000590320.1:c.919A>C	19.37:g.10334663T>G			Q86UN8	Silent	SNP	ENST00000590320.1	37	CCDS12229.1																																																																																				0.706	S1PR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451194.1	NM_004230		G	10334663	T	G	10334663	2	3	756	1	0	0	0	0	0	0	0	1	13800	1550	54	5		5	S1PR2	19	10334663	Silent	SNP	T	TCGA-KO-8416-01A-11D-2310-10	9217820	10334663	48794320	62	44582											
OR10H2	26538	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	19	15839010	15839010	+	Missense_Mutation	SNP	C	C	T	rs373719619		TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr19:15839010C>T	ENST00000305899.3	+	1	177	c.157C>T	c.(157-159)Cgc>Tgc	p.R53C		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	53						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					CTGGAGCGAGCGCAGCCTCCA	0.612																																																0													197	159	172					19																	15839010		2203	4300	6503	SO:0001583	missense	26538			AC004597	CCDS12333.1	19p13.1	2012-08-09				ENSG00000171942		"GPCR / Class A : Olfactory receptors"	8173	protein-coding gene	gene with protein product							Standard	NM_013939		Approved		uc002nbm.2	O60403		ENST00000305899.3:c.157C>T	19.37:g.15839010C>T	ENSP00000306095:p.Arg53Cys		Q6IFQ1|Q96R58	Missense_Mutation	SNP	ENST00000305899.3	37	CCDS12333.1	.	.	.	.	.	.	.	.	.	.	.	12.82	2.052310	0.36181	.	.	ENSG00000171942	ENST00000305899	T	0.01084	5.36	2.88	2.88	0.33553	GPCR, rhodopsin-like superfamily (1);	0.270198	0.26563	N	0.023673	T	0.01523	0.0049	M	0.64630	1.985	0.34217	D	0.674979	B	0.22983	0.078	B	0.15870	0.014	T	0.20140	-1.0284	10	0.56958	D	0.05	.	5.6424	0.17571	0.0:0.8456:0.0:0.1544	.	53	O60403	O10H2_HUMAN	C	53	ENSP00000306095:R53C	ENSP00000306095:R53C	R	+	1	0	OR10H2	15700010	0.000000	0.05858	0.919000	0.36401	0.801000	0.45260	-0.657000	0.05335	1.446000	0.47643	0.537000	0.68136	CGC		0.612	OR10H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460917.1			T	15839010	C	T	15839010	3	4	756	1	0	0	0	0	1	0	0	0	10908	768	27	1	159	1	OR10H2	19	15839010	Missense_Mutation	SNP	C	TCGA-KO-8416-01A-11D-2310-10	5504347	15839010	43289973	63	44583											
ZNF528	84436	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	19	52919685	52919685	+	Missense_Mutation	SNP	G	G	T			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr19:52919685G>T	ENST00000360465.3	+	7	2006	c.1580G>T	c.(1579-1581)gGc>gTc	p.G527V	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	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(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		AATCAATGTGGCAAGGTCTTT	0.393																																																0													69	64	66					19																	52919685		2203	4300	6503	SO:0001583	missense	84436			AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"Zinc fingers, C2H2-type", "-"	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.1580G>T	19.37:g.52919685G>T	ENSP00000353652:p.Gly527Val		B3KPN4|Q86T88|Q96JK0	Missense_Mutation	SNP	ENST00000360465.3	37	CCDS33091.1	.	.	.	.	.	.	.	.	.	.	G	8.697	0.908812	0.17833	.	.	ENSG00000167555	ENST00000360465	T	0.23754	1.89	1.94	0.84	0.18912	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.53690	0.1812	H	0.94462	3.54	0.42832	D	0.994028	D	0.76494	0.999	D	0.65140	0.932	T	0.57100	-0.7869	9	0.87932	D	0	.	7.3395	0.26630	0.1512:0.0:0.8488:0.0	.	527	Q3MIS6	ZN528_HUMAN	V	527	ENSP00000353652:G527V	ENSP00000353652:G527V	G	+	2	0	ZNF528	57611497	0.982000	0.34865	0.063000	0.19743	0.026000	0.11368	1.708000	0.37899	0.140000	0.18849	-0.262000	0.10625	GGC		0.393	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344336.1	NM_032423		T	52919685	G	T	52919685	3	4	756	1	0	0	0	0	1	0	0	0	17974	1203	42	4	1594	4	ZNF528	19	52919685	Missense_Mutation	SNP	G	TCGA-KO-8416-01A-11D-2310-10	37080675	52919685	6209298	64	44584											
TGM3	7053	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	20	2306576	2306576	+	Silent	SNP	T	T	C			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr20:2306576T>C	ENST00000381458.5	+	8	1128	c.1065T>C	c.(1063-1065)gcT>gcC	p.A355A	TGM3_ENST00000463090.1_3'UTR	NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	355					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)	TGTTGGATGCTACCCCGCAGG	0.522																																																0													122	80	94					20																	2306576		2202	4299	6501	SO:0001819	synonymous_variant	7053			L10386	CCDS33435.1	20q11.2	2013-05-02	2013-05-02		ENSG00000125780	ENSG00000125780	2.3.2.13	"Transglutaminases"	11779	protein-coding gene	gene with protein product	"E polypeptide, protein-glutamine-gamma-glutamyltransferase"	600238	"transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)"			7851911, 9452468	Standard	NM_003245		Approved	TGE	uc002wfx.4	Q08188	OTTHUMG00000031690	ENST00000381458.5:c.1065T>C	20.37:g.2306576T>C			A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Silent	SNP	ENST00000381458.5	37	CCDS33435.1																																																																																				0.522	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077579.2	NM_003245		C	2306576	T	C	2306576	2	2	756	1	0	0	0	0	0	0	0	1	15836	1509	53	3		3	TGM3	20	2306576	Silent	SNP	T	TCGA-KO-8416-01A-11D-2310-10		2306576	60718944	65	44585											
GDF5	8200	broad.mit.edu	37	20	34021909	34021909	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr20:34021909A>G	ENST00000374372.1	-	4	1807	c.1304T>C	c.(1303-1305)tTc>tCc	p.F435S	GDF5_ENST00000374369.3_Missense_Mutation_p.F435S|GDF5OS_ENST00000374375.1_5'UTR			P43026	GDF5_HUMAN	growth differentiation factor 5	435					cell-cell signaling (GO:0007267)|chondrocyte differentiation (GO:0002062)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix organization (GO:0030198)|forelimb morphogenesis (GO:0035136)|growth (GO:0040007)|hindlimb morphogenesis (GO:0035137)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuron differentiation (GO:0045666)|regulation of multicellular organism growth (GO:0040014)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			GCGCAATGGGAACTCGCACAG	0.602																																																0													135	118	124					20																	34021909		2203	4300	6503	SO:0001583	missense	8200			X80915	CCDS13254.1	20q11.2	2008-05-22	2007-04-12		ENSG00000125965	ENSG00000125965			4220	protein-coding gene	gene with protein product	"cartilage-derived morphogenetic protein-1"	601146				9288091, 9288098	Standard	NM_000557		Approved	CDMP1, BMP14	uc002xck.1	P43026	OTTHUMG00000032341	ENST00000374372.1:c.1304T>C	20.37:g.34021909A>G	ENSP00000363492:p.Phe435Ser		E1P5Q2|Q96SB1	Missense_Mutation	SNP	ENST00000374372.1	37	CCDS13254.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.999143	0.74818	.	.	ENSG00000125965	ENST00000374369;ENST00000374372	D;D	0.84146	-1.81;-1.81	4.53	4.53	0.55603	Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.90300	0.6966	L	0.60904	1.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.91390	0.5134	10	0.87932	D	0	.	14.0234	0.64571	1.0:0.0:0.0:0.0	.	435;435	F1T0J1;P43026	.;GDF5_HUMAN	S	435	ENSP00000363489:F435S;ENSP00000363492:F435S	ENSP00000363489:F435S	F	-	2	0	GDF5	33485323	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	9.139000	0.94554	1.893000	0.54813	0.459000	0.35465	TTC		0.602	GDF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078875.2			G	34021909	A	G	34021909	3	3	756	1	0	0	0	0	1	0	0	0	6318	246	9	3	205	3	GDF5	20	34021909	Missense_Mutation	SNP	A	TCGA-KO-8416-01A-11D-2310-10	31715333	34021909	29003611	66	44586											
C20orf117	140710	bcgsc.ca	37	20	35437043	35437043	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr20:35437043T>C	ENST00000357779.3	-	8	2299	c.1973A>G	c.(1972-1974)aAc>aGc	p.N658S	SOGA1_ENST00000456801.2_Missense_Mutation_p.N499S|SOGA1_ENST00000279034.6_Missense_Mutation_p.N658S|SOGA1_ENST00000237536.4_Missense_Mutation_p.N896S			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	658					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						CACCAGCATGTTCTTCTCCTG	0.582											OREG0025909	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													47	50	49					20																	35437043		1958	4165	6123	SO:0001583	missense	140710			AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"suppressor of glucose by autophagy", "suppressor of glucose from autophagy"		"chromosome 20 open reading frame 117", "KIAA0889"	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.1973A>G	20.37:g.35437043T>C	ENSP00000350424:p.Asn658Ser	855	A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Missense_Mutation	SNP	ENST00000357779.3	37		.	.	.	.	.	.	.	.	.	.	T	17.78	3.473425	0.63737	.	.	ENSG00000149639	ENST00000237536;ENST00000279034;ENST00000456801;ENST00000357779	T;T;T;T	0.38560	1.13;1.13;1.13;1.13	5.28	5.28	0.74379	.	0.048321	0.85682	D	0.000000	T	0.35970	0.0950	L	0.36672	1.1	0.41468	D	0.98808	B	0.31435	0.323	B	0.34824	0.19	T	0.15321	-1.0441	10	0.26408	T	0.33	-56.7913	14.3227	0.66496	0.0:0.0:0.0:1.0	.	658	O94964-4	.	S	896;658;499;658	ENSP00000237536:N896S;ENSP00000279034:N658S;ENSP00000413886:N499S;ENSP00000350424:N658S	ENSP00000237536:N896S	N	-	2	0	KIAA0889	34870457	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.807000	0.62576	2.216000	0.71823	0.533000	0.62120	AAC		0.582	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181		C	35437043	T	C	35437043	3	2	756	1	0	0	0	0	1	0	0	0	2085	1725	60	3	2392	3	C20orf117	20	35437043	Missense_Mutation	SNP	T	TCGA-KO-8416-01A-11D-2310-10	1415134	35437043	27588477	67	44587											
USP25	29761	broad.mit.edu	37	21	17150316	17150316	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr21:17150316G>A	ENST00000285679.6	+	4	731	c.362G>A	c.(361-363)gGa>gAa	p.G121E	USP25_ENST00000547201.1_3'UTR|USP25_ENST00000285681.2_Missense_Mutation_p.G121E|USP25_ENST00000351097.5_Missense_Mutation_p.G121E|USP25_ENST00000400183.2_Missense_Mutation_p.G121E	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	121					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)		AGGGAGACTGGAATAACTGAT	0.343																																																0													59	60	60					21																	17150316		2203	4300	6503	SO:0001583	missense	29761			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.362G>A	21.37:g.17150316G>A	ENSP00000285679:p.Gly121Glu		C0LSZ0|Q6DHZ9|Q9H9W1	Missense_Mutation	SNP	ENST00000285679.6	37	CCDS33515.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.735801	0.89482	.	.	ENSG00000155313	ENST00000285681;ENST00000285679;ENST00000351097;ENST00000400183	T;T;T;T	0.30448	1.94;1.95;1.53;1.95	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.38692	0.1050	N	0.14661	0.345	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;0.998;1.0	D;D;D;D	0.91635	0.943;0.998;0.943;0.999	T	0.20940	-1.0260	10	0.19590	T	0.45	.	18.85	0.92224	0.0:0.0:1.0:0.0	.	121;121;121;121	Q9UHP3-3;Q96B65;Q9UHP3-1;Q9UHP3	.;.;.;UBP25_HUMAN	E	121	ENSP00000285681:G121E;ENSP00000285679:G121E;ENSP00000299574:G121E;ENSP00000383044:G121E	ENSP00000285679:G121E	G	+	2	0	USP25	16072187	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.379000	0.97198	2.526000	0.85167	0.585000	0.79938	GGA		0.343	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157964.1			A	17150316	G	A	17150316	3	1	756	1	0	0	0	0	1	0	0	0	17061	1174	41	2	376	2	USP25	21	17150316	Missense_Mutation	SNP	G	TCGA-KO-8416-01A-11D-2310-10		17150316	30979579	68	44588											
TRIOBP	11078	mdanderson.org	37	22	38122448	38122448	+	Silent	SNP	C	C	T	rs739137	byFrequency	TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr22:38122448C>T	ENST00000406386.3	+	7	4140	c.3885C>T	c.(3883-3885)agC>agT	p.S1295S		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1295					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)					AGTGCAGCAGCGGGGGCCGCA	0.726													C|||	1686	0.336661	0.1543	0.2867	5008	,	,		13163	0.5863		0.3877	False		,,,				2504	0.3088															0								C		648,3004		99,450,1277	5	7	6		3885	3.6	1	22	dbSNP_86	6	3246,4490		767,1712,1389	no	coding-synonymous	TRIOBP	NM_001039141.2		866,2162,2666	TT,TC,CC		41.9597,17.7437,34.1939		1295/2366	38122448	3894,7494	1826	3868	5694	SO:0001819	synonymous_variant	11078			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.3885C>T	22.37:g.38122448C>T			B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Silent	SNP	ENST00000406386.3	37	CCDS43015.1																																																																																				0.726	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			T	38122448	C	T	38122448	2	4	756	1	0	0	0	0	0	0	0	1	16558	767	27	1		1	TRIOBP	22	38122448	Silent	SNP	C	TCGA-KO-8416-01A-11D-2310-10		38122448	13182118	69	44589											
CD99	4267	broad.mit.edu	37	X	2658825	2658825	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chrX:2658825C>T	ENST00000381192.3	+	10	720	c.538C>T	c.(538-540)Cgt>Tgt	p.R180C	CD99_ENST00000381187.3_Missense_Mutation_p.R164C	NM_001277710.1|NM_002414.3	NP_001264639.1|NP_002405.1	P14209	CD99_HUMAN	CD99 molecule	180					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						CACAGTTCAGCGTACTCTTTT	0.507																																																0													246	235	239					X																	2658825		2203	4296	6499	SO:0001583	missense	4267			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.538C>T	X.37:g.2658825C>T	ENSP00000370588:p.Arg180Cys		A6NIW1|O00518|Q6ICV7	Missense_Mutation	SNP	ENST00000381192.3	37	CCDS14119.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.349|9.349	1.065017|1.065017	0.20067|0.20067	.|.	.|.	ENSG00000002586|ENSG00000002586	ENST00000381177|ENST00000381192;ENST00000381187	.|T;T	.|0.32988	.|1.45;1.43	1.06|1.06	0.16|0.16	0.14972|0.14972	.|.	.|0.193478	.|0.31648	.|U	.|0.007288	T|T	0.10208|0.10208	0.0250|0.0250	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	.|D;D;D	.|0.63880	.|0.993;0.993;0.993	.|B;B;B	.|0.32928	.|0.155;0.155;0.155	T|T	0.33675|0.33675	-0.9859|-0.9859	6|10	0.87932|0.52906	D|T	0|0.07	.|.	3.1953|3.1953	0.06631|0.06631	0.0:0.6805:0.0:0.3195|0.0:0.6805:0.0:0.3195	.|.	.|164;180;180	.|A6NIW1;B2R932;P14209	.|.;.;CD99_HUMAN	V|C	78|180;164	.|ENSP00000370588:R180C;ENSP00000370582:R164C	ENSP00000370570:A78V|ENSP00000370582:R164C	A|R	+|+	2|1	0|0	CD99|CD99	2668825|2668825	0.043000|0.043000	0.20138|0.20138	0.005000|0.005000	0.12908|0.12908	0.523000|0.523000	0.34469|0.34469	-0.075000|-0.075000	0.11431|0.11431	-0.010000|-0.010000	0.14271|0.14271	0.284000|0.284000	0.19432|0.19432	GCG|CGT		0.507	CD99-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055624.1	NM_001122898		T	2658825	C	T	2658825	3	4	756	1	0	0	0	0	1	0	0	0	3052	768	27	1	576	1	CD99	23	2658825	Missense_Mutation	SNP	C	TCGA-KO-8416-01A-11D-2310-10		2658825	152611735	70	44590											
SHROOM2	357	broad.mit.edu	37	X	9900608	9900608	+	Silent	SNP	A	A	C			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chrX:9900608A>C	ENST00000380913.3	+	6	3375	c.3285A>C	c.(3283-3285)ccA>ccC	p.P1095P	SHROOM2_ENST00000418909.2_5'UTR|SHROOM2_ENST00000493668.1_3'UTR	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1095					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)				GGCCCTTCCCAACGCCATCCC	0.697																																																0													41	37	39					X																	9900608		2203	4300	6503	SO:0001819	synonymous_variant	357			X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"apical protein, Xenopus laevis-like", "apical protein-like (Xenopus laevis)"	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.3285A>C	X.37:g.9900608A>C			B9EIQ7	Silent	SNP	ENST00000380913.3	37	CCDS14135.1																																																																																				0.697	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	NM_001649		C	9900608	A	C	9900608	2	2	756	1	0	0	0	0	0	0	0	1	14300	117	5	5		5	SHROOM2	23	9900608	Silent	SNP	A	TCGA-KO-8416-01A-11D-2310-10	7241783	9900608	145369952	71	44591											
DCAF8L2	347442	mdanderson.org	37	X	27765417	27765417	+	Silent	SNP	G	G	A			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chrX:27765417G>A	ENST00000451261.2	+	5	804	c.405G>A	c.(403-405)gaG>gaA	p.E135E		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	135	Glu-rich.									central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						aggaggaggaggaggaggagg	0.577																																																0													15	14	14					X																	27765417		692	1587	2279	SO:0001819	synonymous_variant	347442				CCDS59162.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17		ENSG00000189186		"WD repeat domain containing"	31811	protein-coding gene	gene with protein product			"WD repeat domain 42C"	WDR42C			Standard	NM_001136533		Approved		uc011mjy.2	P0C7V8		ENST00000451261.2:c.405G>A	X.37:g.27765417G>A			B2RXH9|J3KT06	Silent	SNP	ENST00000451261.2	37	CCDS59162.1																																																																																				0.577	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056143.4	XM_293354		A	27765417	G	A	27765417	2	1	756	1	0	0	0	0	0	0	0	1	4280	991	35	2		2	DCAF8L2	23	27765417	Silent	SNP	G	TCGA-KO-8416-01A-11D-2310-10	17864809	27765417	127505143	72	44592											
TAF7L	54457	mdanderson.org	37	X	100531437	100531437	+	Silent	SNP	C	C	T			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chrX:100531437C>T	ENST00000372907.3	-	10	1040	c.1029G>A	c.(1027-1029)gaG>gaA	p.E343E	TAF7L_ENST00000372905.2_Intron|TAF7L_ENST00000356784.1_Silent_p.E257E|TAF7L_ENST00000324762.6_Intron	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	343	Glu-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIID complex (GO:0005669)				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						catcctcatcctcatcttcat	0.413																																					Ovarian(104;431 1530 3210 15406 18594)											0													210	163	179					X																	100531437		2203	4300	6503	SO:0001819	synonymous_variant	54457			AF285595	CCDS35347.1, CCDS55466.1	Xq22.1	2009-03-25	2002-08-29	2001-12-07	ENSG00000102387	ENSG00000102387			11548	protein-coding gene	gene with protein product	"cancer/testis antigen 40"	300314	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, Q"	TAF2Q		11279525	Standard	NM_024885		Approved	CT40	uc004ehb.3	Q5H9L4	OTTHUMG00000022021	ENST00000372907.3:c.1029G>A	X.37:g.100531437C>T			Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0	Silent	SNP	ENST00000372907.3	37	CCDS35347.1																																																																																				0.413	TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057526.2			T	100531437	C	T	100531437	2	4	756	1	0	0	0	0	0	0	0	1	15538	680	24	2		2	TAF7L	23	100531437	Silent	SNP	C	TCGA-KO-8416-01A-11D-2310-10	72766020	100531437	54739123	73	44593	466	3									
TAF7L	54457	mdanderson.org	37	X	100531443	100531443	+	Missense_Mutation	SNP	T	T	A	rs201479972		TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chrX:100531443T>A	ENST00000372907.3	-	10	1034	c.1023A>T	c.(1021-1023)gaA>gaT	p.E341D	TAF7L_ENST00000372905.2_Intron|TAF7L_ENST00000356784.1_Missense_Mutation_p.E255D|TAF7L_ENST00000324762.6_Intron	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	341	Glu-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIID complex (GO:0005669)				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						catcctcatcttcatcatcct	0.423																																					Ovarian(104;431 1530 3210 15406 18594)											0													214	170	185					X																	100531443		2203	4300	6503	SO:0001583	missense	54457			AF285595	CCDS35347.1, CCDS55466.1	Xq22.1	2009-03-25	2002-08-29	2001-12-07	ENSG00000102387	ENSG00000102387			11548	protein-coding gene	gene with protein product	"cancer/testis antigen 40"	300314	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, Q"	TAF2Q		11279525	Standard	NM_024885		Approved	CT40	uc004ehb.3	Q5H9L4	OTTHUMG00000022021	ENST00000372907.3:c.1023A>T	X.37:g.100531443T>A	ENSP00000361998:p.Glu341Asp		Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0	Missense_Mutation	SNP	ENST00000372907.3	37	CCDS35347.1	.	.	.	.	.	.	.	.	.	.	t	3.169	-0.170386	0.06461	.	.	ENSG00000102387	ENST00000372907;ENST00000356784	T;T	0.04194	3.68;5.26	4.65	-9.3	0.00649	Armadillo-like helical (1);	0.509071	0.14654	N	0.306382	T	0.00906	0.0030	N	0.00926	-1.1	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.34254	-0.9836	10	0.13853	T	0.58	0.4824	1.2941	0.02066	0.3347:0.1119:0.1394:0.414	.	341	Q5H9L4	TAF7L_HUMAN	D	341;255	ENSP00000361998:E341D;ENSP00000349235:E255D	ENSP00000349235:E255D	E	-	3	2	TAF7L	100418099	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.944000	0.00681	-2.253000	0.00698	-1.727000	0.00703	GAA		0.423	TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057526.2			A	100531443	T	A	100531443	3	1	756	1	0	0	0	0	1	0	0	0	15538	1606	56	5	381	5	TAF7L	23	100531443	Missense_Mutation	SNP	T	TCGA-KO-8416-01A-11D-2310-10	6	100531443	54739117	74	44594	466	3									
TAF7L	54457	mdanderson.org	37	X	100531446	100531446	+	Missense_Mutation	SNP	A	A	C	rs200145772		TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chrX:100531446A>C	ENST00000372907.3	-	10	1031	c.1020T>G	c.(1018-1020)gaT>gaG	p.D340E	TAF7L_ENST00000372905.2_Intron|TAF7L_ENST00000356784.1_Missense_Mutation_p.D254E|TAF7L_ENST00000324762.6_Intron	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	340	Glu-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIID complex (GO:0005669)				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						cctcatcttcatcatcctcat	0.423																																					Ovarian(104;431 1530 3210 15406 18594)											0													216	172	187					X																	100531446		2203	4300	6503	SO:0001583	missense	54457			AF285595	CCDS35347.1, CCDS55466.1	Xq22.1	2009-03-25	2002-08-29	2001-12-07	ENSG00000102387	ENSG00000102387			11548	protein-coding gene	gene with protein product	"cancer/testis antigen 40"	300314	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, Q"	TAF2Q		11279525	Standard	NM_024885		Approved	CT40	uc004ehb.3	Q5H9L4	OTTHUMG00000022021	ENST00000372907.3:c.1020T>G	X.37:g.100531446A>C	ENSP00000361998:p.Asp340Glu		Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0	Missense_Mutation	SNP	ENST00000372907.3	37	CCDS35347.1	.	.	.	.	.	.	.	.	.	.	a	1.221	-0.626850	0.03610	.	.	ENSG00000102387	ENST00000372907;ENST00000356784	T;T	0.20463	3.75;2.07	4.65	-8.53	0.00916	Armadillo-like helical (1);	1.425020	0.05265	N	0.516431	T	0.05318	0.0141	N	0.03115	-0.41	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.27938	-1.0059	10	0.02654	T	1	0.0484	3.5395	0.07806	0.2328:0.4402:0.222:0.105	.	340	Q5H9L4	TAF7L_HUMAN	E	340;254	ENSP00000361998:D340E;ENSP00000349235:D254E	ENSP00000349235:D254E	D	-	3	2	TAF7L	100418102	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-2.122000	0.01321	-1.525000	0.01762	-0.457000	0.05445	GAT		0.423	TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057526.2			C	100531446	A	C	100531446	3	2	756	1	0	0	0	0	1	0	0	0	15538	214	8	5	384	5	TAF7L	23	100531446	Missense_Mutation	SNP	A	TCGA-KO-8416-01A-11D-2310-10	3	100531446	54739114	75	44595	466	3									
SLC6A14	11254	hgsc.bcm.edu	37	X	115572265	115572265	+	Splice_Site	DEL	G	G	-			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chrX:115572265delG	ENST00000371900.4	+	3	434	c.346delG	c.(346-348)ggt>gt	p.G116fs		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	116					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)	ATTGTTTCAAGGTTGGTATTA	0.373																																																0													222	206	212					X																	115572265		2203	4300	6503	SO:0001630	splice_region_variant	11254			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.346+1G>-	X.37:g.115572265delG			Q5H942	Frame_Shift_Del	DEL	ENST00000371900.4	37	CCDS14570.1																																																																																				0.373	SLC6A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057986.1		Frame_Shift_Del	-	115572265	G	-	115572265	8	5	756	1	0	1	0	1	0	0	1	0	14683	1014	35	0	356	0	SLC6A14	23	115572265	Splice_Site	DEL	G	TCGA-KO-8416-01A-11D-2310-10	15040819	115572265	39698295	76	44596	467	2									
SLC6A14	11254	bcgsc.ca	37	X	115572266	115572266	+	Splice_Site	DEL	G	G	-			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chrX:115572266delG	ENST00000371900.4	+	3	434		c.e3+1			NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14						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)	TTGTTTCAAGGTTGGTATTAA	0.373																																																0													220	204	209					X																	115572266		2203	4300	6503	SO:0001630	splice_region_variant	11254			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.346+1G>-	X.37:g.115572266delG			Q5H942	Splice_Site	DEL	ENST00000371900.4	37	CCDS14570.1																																																																																				0.373	SLC6A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057986.1		Intron	-	115572266	G	-	115572266	8	5	756	1	0	1	0	1	0	0	1	0	14683	1275	44	0	357	0	SLC6A14	23	115572266	Splice_Site	DEL	G	TCGA-KO-8416-01A-11D-2310-10	1	115572266	39698294	77	44597	467	2									
NOC2L	26155	ucsc.edu	37	1	880468	880468	+	Silent	SNP	C	C	T	rs368313199|rs372255682	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr1:880468C>T	ENST00000327044.6	-	18	2161	c.2112G>A	c.(2110-2112)gaG>gaA	p.E704E		NM_015658.3	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	704	Asp/Glu-rich (acidic).				apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	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;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		cctcgccctcctcctcgtcct	0.622																																																0													124	115	118					1																	880468		2203	4300	6503	SO:0001819	synonymous_variant	26155			AL050019	CCDS3.1	1p36.33	2014-06-12			ENSG00000188976	ENSG00000188976			24517	protein-coding gene	gene with protein product	"novel INHAT repressor", "protein phosphatase 1, regulatory subunit 12"	610770					Standard	NM_015658		Approved	DKFZP564C186, NET7, NET15, NIR, PPP1R112	uc001abz.4	Q9Y3T9	OTTHUMG00000040720	ENST00000327044.6:c.2112G>A	1.37:g.880468C>T			Q5SVA3|Q9BTN6	Silent	SNP	ENST00000327044.6	37	CCDS3.1																																																																																				0.622	NOC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097869.1	NM_015658		T	880468	C	T	880468	2	4	757	1	0	0	0	0	0	0	0	1	10515	680	24	2		2	NOC2L	1	880468	Silent	SNP	C	TCGA-KO-8417-01A-11D-2310-10		880468	248370153	1	44598	468	2									
NOC2L	26155	ucsc.edu	37	1	880475	880475	+	Missense_Mutation	SNP	T	T	C	rs368313199|rs372255682	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr1:880475T>C	ENST00000327044.6	-	18	2154	c.2105A>G	c.(2104-2106)gAc>gGc	p.D702G		NM_015658.3	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	702	Asp/Glu-rich (acidic).				apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	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;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		ctcctcctcgtcctcttcatc	0.622																																																0																																										SO:0001583	missense	26155			AL050019	CCDS3.1	1p36.33	2014-06-12			ENSG00000188976	ENSG00000188976			24517	protein-coding gene	gene with protein product	"novel INHAT repressor", "protein phosphatase 1, regulatory subunit 12"	610770					Standard	NM_015658		Approved	DKFZP564C186, NET7, NET15, NIR, PPP1R112	uc001abz.4	Q9Y3T9	OTTHUMG00000040720	ENST00000327044.6:c.2105A>G	1.37:g.880475T>C	ENSP00000317992:p.Asp702Gly		Q5SVA3|Q9BTN6	Missense_Mutation	SNP	ENST00000327044.6	37	CCDS3.1	.	.	.	.	.	.	.	.	.	.	T	10.22	1.289827	0.23478	.	.	ENSG00000188976	ENST00000327044	T	0.26810	1.71	3.68	-0.445	0.12242	Armadillo-type fold (1);	2.008120	0.02105	N	0.054339	T	0.18425	0.0442	L	0.29908	0.895	0.09310	N	1	B;B;B	0.19583	0.037;0.037;0.001	B;B;B	0.20767	0.031;0.031;0.002	T	0.14727	-1.0462	10	0.25751	T	0.34	0.5989	4.3641	0.11216	0.0:0.212:0.1769:0.6111	.	702;702;469	B3KNC3;Q9Y3T9;Q9H9J5	.;NOC2L_HUMAN;.	G	702	ENSP00000317992:D702G	ENSP00000317992:D702G	D	-	2	0	NOC2L	870338	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.335000	0.07873	0.046000	0.15833	-0.796000	0.03273	GAC		0.622	NOC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097869.1	NM_015658		C	880475	T	C	880475	3	2	757	1	0	0	0	0	1	0	0	0	10515	1667	58	3	152	3	NOC2L	1	880475	Missense_Mutation	SNP	T	TCGA-KO-8417-01A-11D-2310-10	7	880475	248370146	2	44599	468	2									
AJAP1	55966	broad.mit.edu;mdanderson.org;bcgsc.ca	37	1	4772576	4772576	+	Missense_Mutation	SNP	G	G	C			TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr1:4772576G>C	ENST00000378191.4	+	2	1027	c.646G>C	c.(646-648)Gtg>Ctg	p.V216L	AJAP1_ENST00000378190.3_Missense_Mutation_p.V216L	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	216	Thr-rich.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		GAAGACAACTGTGGccgccac	0.647																																																0													32	31	31					1																	4772576		2203	4299	6502	SO:0001583	missense	55966			AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"transmembrane protein SHREW1"	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.646G>C	1.37:g.4772576G>C	ENSP00000367433:p.Val216Leu		Q9Y229	Missense_Mutation	SNP	ENST00000378191.4	37	CCDS54.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.530294	0.27387	.	.	ENSG00000196581	ENST00000378190;ENST00000378191	T;T	0.45276	0.9;0.9	5.35	4.42	0.53409	.	0.500610	0.18335	N	0.144364	T	0.28001	0.0690	N	0.17082	0.46	0.28859	N	0.895599	B	0.28291	0.206	B	0.31101	0.124	T	0.16630	-1.0396	10	0.25106	T	0.35	-5.2669	11.9527	0.52964	0.0:0.1754:0.8246:0.0	.	216	Q9UKB5	AJAP1_HUMAN	L	216	ENSP00000367432:V216L;ENSP00000367433:V216L	ENSP00000367432:V216L	V	+	1	0	AJAP1	4672436	0.928000	0.31464	0.027000	0.17364	0.774000	0.43823	1.764000	0.38471	1.218000	0.43458	0.467000	0.42956	GTG		0.647	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	NM_018836		C	4772576	G	C	4772576	3	2	757	1	0	0	0	0	1	0	0	0	438	1377	48	4	652	4	AJAP1	1	4772576	Missense_Mutation	SNP	G	TCGA-KO-8417-01A-11D-2310-10	3892101	4772576	244478045	3	44600											
TRIM63	84676	mdanderson.org;bcgsc.ca	37	1	26385003	26385003	+	Missense_Mutation	SNP	T	T	C	rs2275950	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr1:26385003T>C	ENST00000374272.3	-	5	847	c.709A>G	c.(709-711)Aaa>Gaa	p.K237E	TRIM63_ENST00000483052.1_5'Flank	NM_032588.3	NP_115977.2	Q969Q1	TRI63_HUMAN	tripartite motif containing 63, E3 ubiquitin protein ligase	237			K -> E (in dbSNP:rs2275950). {ECO:0000269|PubMed:11243782, ECO:0000269|PubMed:15489334}.		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)	p.K237E(1)		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)		CTAAGCTTTTTCTCCTGCTCC	0.537													C|||	913	0.182308	0.267	0.1239	5008	,	,		20137	0.1706		0.2187	False		,,,				2504	0.0838															1	Substitution - Missense(1)	stomach(1)						C	GLU/LYS	1195,3211	710.2+/-407.8	175,845,1183	177	161	166		709	5.5	1	1	dbSNP_100	166	1862,6738	729.6+/-406.7	197,1468,2635	yes	missense	TRIM63	NM_032588.2	56	372,2313,3818	CC,CT,TT		21.6512,27.1221,23.5045	benign	237/354	26385003	3057,9949	2203	4300	6503	SO:0001583	missense	84676			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.709A>G	1.37:g.26385003T>C	ENSP00000363390:p.Lys237Glu		B4DN95|Q5T2I1|Q96BD3|Q96KD9|Q9BYV4	Missense_Mutation	SNP	ENST00000374272.3	37	CCDS273.1	434	0.1987179487179487	127	0.258130081300813	43	0.11878453038674033	100	0.17482517482517482	164	0.21635883905013192	C	7.836	0.720876	0.15372	0.271221	0.216512	ENSG00000158022	ENST00000374272	T	0.40756	1.02	5.5	5.5	0.81552	.	0.198167	0.52532	N	0.000069	T	0.00012	0.0000	N	0.00043	-2.47	0.48830	P	2.889999999999837E-4	B	0.02656	0.0	B	0.01281	0.0	T	0.33954	-0.9848	9	0.02654	T	1	.	14.2207	0.65826	0.0:0.9273:0.0:0.0727	rs2275950;rs52817885;rs60345068;rs2275950	237	Q969Q1	TRI63_HUMAN	E	237	ENSP00000363390:K237E	ENSP00000363390:K237E	K	-	1	0	TRIM63	26257590	0.957000	0.32711	1.000000	0.80357	0.788000	0.44548	2.222000	0.42926	1.336000	0.45506	-0.215000	0.12644	AAA		0.537	TRIM63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019750.1	NM_032588		C	26385003	T	C	26385003	3	2	757	1	0	0	0	0	1	0	0	0	16543	1792	62	3	372	3	TRIM63	1	26385003	Missense_Mutation	SNP	T	TCGA-KO-8417-01A-11D-2310-10	21612427	26385003	222865618	4	44601											
HCRTR1	3061	ucsc.edu;bcgsc.ca	37	1	32084861	32084861	+	Missense_Mutation	SNP	T	T	C	rs11806980	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr1:32084861T>C	ENST00000373706.5	+	1	221	c.68T>C	c.(67-69)gTg>gCg	p.V23A	HCRTR1_ENST00000468521.1_3'UTR|HCRTR1_ENST00000373705.1_Missense_Mutation_p.V23A|HCRTR1_ENST00000403528.2_Missense_Mutation_p.V23A			O43613	OX1R_HUMAN	hypocretin (orexin) receptor 1	23					feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|orexin receptor activity (GO:0016499)|peptide hormone binding (GO:0017046)			breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		CCGTCCCCTGTGCCTCCAGAC	0.612													T|||	204	0.0407348	0.1437	0.0187	5008	,	,		19073	0.0		0.001	False		,,,				2504	0.0															0								T	ALA/VAL	551,3855	250.9+/-257.8	35,481,1687	98	101	100		68	-2.6	0.1	1	dbSNP_120	100	3,8597	3.0+/-9.4	0,3,4297	yes	missense	HCRTR1	NM_001525.2	64	35,484,5984	CC,CT,TT		0.0349,12.5057,4.2596	benign	23/426	32084861	554,12452	2203	4300	6503	SO:0001583	missense	3061			AF041243	CCDS344.1	1p33	2012-08-08			ENSG00000121764	ENSG00000121764		"GPCR / Class A : Hypocretin (orexin) receptors"	4848	protein-coding gene	gene with protein product		602392				9491897	Standard	NM_001525		Approved	OX1R	uc009vtx.2	O43613	OTTHUMG00000003876	ENST00000373706.5:c.68T>C	1.37:g.32084861T>C	ENSP00000362810:p.Val23Ala		A8K3A6|Q9HBV6	Missense_Mutation	SNP	ENST00000373706.5	37	CCDS344.1	73	0.033424908424908424	67	0.13617886178861788	5	0.013812154696132596	0	0.0	1	0.0013192612137203166	T	0.130	-1.115174	0.01799	0.125057	3.49E-4	ENSG00000121764	ENST00000403528;ENST00000373706;ENST00000373705	T;T;T	0.59638	0.25;0.25;0.47	3.91	-2.64	0.06114	.	1.606490	0.03596	N	0.232667	T	0.00210	0.0006	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	0.02925	-1.1093	10	0.08837	T	0.75	.	0.8658	0.01203	0.1644:0.3194:0.1983:0.3179	rs11806980	23;23	A6NMV7;O43613	.;OX1R_HUMAN	A	23	ENSP00000384387:V23A;ENSP00000362810:V23A;ENSP00000362809:V23A	ENSP00000362809:V23A	V	+	2	0	HCRTR1	31857448	0.000000	0.05858	0.095000	0.20976	0.693000	0.40251	-0.247000	0.08866	-0.443000	0.07180	0.533000	0.62120	GTG		0.612	HCRTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011042.1	NM_001525		C	32084861	T	C	32084861	3	2	757	1	0	0	0	0	1	0	0	0	7003	1696	59	3	70	3	HCRTR1	1	32084861	Missense_Mutation	SNP	T	TCGA-KO-8417-01A-11D-2310-10	5699858	32084861	217165760	5	44602											
GJB5	2709	broad.mit.edu	37	1	35223027	35223027	+	Silent	SNP	C	C	T	rs61750010	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr1:35223027C>T	ENST00000338513.1	+	2	269	c.96C>T	c.(94-96)cgC>cgT	p.R32R	GJB4_ENST00000339480.1_5'Flank	NM_005268.3	NP_005259.1	O95377	CXB5_HUMAN	gap junction protein, beta 5, 31.1kDa	32					cell communication (GO:0007154)|epidermis development (GO:0008544)|labyrinthine layer morphogenesis (GO:0060713)|spongiotrophoblast differentiation (GO:0060708)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10		Myeloproliferative disorder(586;0.0393)				TCATCTTCCGCGTGCTGGTGT	0.572													C|||	15	0.00299521	0.0106	0.0014	5008	,	,		19499	0.0		0.0	False		,,,				2504	0.0															0								C		70,4336	64.1+/-101.4	0,70,2133	115	104	108		96	-11.3	0.1	1	dbSNP_129	108	0,8600		0,0,4300	no	coding-synonymous	GJB5	NM_005268.2		0,70,6433	TT,TC,CC		0.0,1.5887,0.5382		32/274	35223027	70,12936	2203	4300	6503	SO:0001819	synonymous_variant	2709			BC004379	CCDS382.1	1p34.3	2008-05-14	2007-11-06		ENSG00000189280	ENSG00000189280		"Ion channels / Gap junction proteins (connexins)"	4287	protein-coding gene	gene with protein product	"connexin 31.1"	604493	"gap junction protein, beta 5 (connexin 31.1)", "gap junction protein, beta 5"			9843209	Standard	NM_005268		Approved	CX31.1	uc001bxu.4	O95377	OTTHUMG00000004053	ENST00000338513.1:c.96C>T	1.37:g.35223027C>T			Q9UPA3	Silent	SNP	ENST00000338513.1	37	CCDS382.1																																																																																				0.572	GJB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011561.1	NM_005268		T	35223027	C	T	35223027	2	4	757	1	0	0	0	0	0	0	0	1	6413	755	27	1		1	GJB5	1	35223027	Silent	SNP	C	TCGA-KO-8417-01A-11D-2310-10	3138166	35223027	214027594	6	44603											
FHL3	2275	broad.mit.edu	37	1	38463083	38463083	+	Silent	SNP	C	C	A			TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr1:38463083C>A	ENST00000373016.3	-	6	1005	c.837G>T	c.(835-837)ggG>ggT	p.G279G	FHL3_ENST00000485803.1_5'UTR	NM_001243878.1|NM_004468.4	NP_001230807.1|NP_004459.2	Q13643	FHL3_HUMAN	four and a half LIM domains 3	279					actin cytoskeleton organization (GO:0030036)|muscle organ development (GO:0007517)	focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)|Z disc (GO:0030018)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TGGCTTAGGGCCCTGCCTGGC	0.642																																																0													56	61	59					1																	38463083		2203	4300	6503	SO:0001819	synonymous_variant	2275			BC011697	CCDS30678.1	1p34.3	2008-02-05			ENSG00000183386	ENSG00000183386			3704	protein-coding gene	gene with protein product		602790				8753811, 10226657	Standard	NM_004468		Approved	SLIM2	uc001cck.3	Q13643	OTTHUMG00000004434	ENST00000373016.3:c.837G>T	1.37:g.38463083C>A			D3DPT6|Q6I9T0|Q9BVA2	Silent	SNP	ENST00000373016.3	37	CCDS30678.1																																																																																				0.642	FHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012958.1	NM_004468		A	38463083	C	A	38463083	2	1	757	1	0	0	0	0	0	0	0	1	5882	726	26	4		4	FHL3	1	38463083	Silent	SNP	C	TCGA-KO-8417-01A-11D-2310-10	3240056	38463083	210787538	7	44604											
ANP32E	81611	ucsc.edu;mdanderson.org	37	1	150199042	150199042	+	Missense_Mutation	SNP	C	C	A	rs56692627|rs28594165|rs68136184	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr1:150199042C>A	ENST00000314136.8	-	5	948	c.579G>T	c.(577-579)gaG>gaT	p.E193D	ANP32E_ENST00000369116.4_Missense_Mutation_p.E61D|ANP32E_ENST00000436748.2_Missense_Mutation_p.E152D|ANP32E_ENST00000533654.1_Missense_Mutation_p.R138M|ANP32E_ENST00000369114.5_Intron|ANP32E_ENST00000369115.2_Missense_Mutation_p.E61D|ANP32E_ENST00000369119.3_Missense_Mutation_p.E145D	NM_001136478.2|NM_001280559.1|NM_030920.3	NP_001129950.1|NP_001267488.1|NP_112182.1	Q9BTT0	AN32E_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member E	193	Asp/Glu-rich (highly acidic).				histone exchange (GO:0043486)|negative regulation of catalytic activity (GO:0043086)	cytoplasmic membrane-bounded vesicle (GO:0016023)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	histone binding (GO:0042393)|phosphatase inhibitor activity (GO:0019212)			breast(3)|endometrium(3)|lung(7)|skin(1)|urinary_tract(1)	15	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)			cctcatcctcctcttcctctt	0.443																																																0													236	194	208					1																	150199042		2203	4300	6503	SO:0001583	missense	81611			AK092672	CCDS946.1, CCDS44214.1, CCDS44215.1, CCDS60245.1	1q22	2008-02-05			ENSG00000143401	ENSG00000143401		"ANP32 acidic nuclear phosphoproteins"	16673	protein-coding gene	gene with protein product		609611				12438741	Standard	NM_030920		Approved	LANPL, MGC5350, LANP-L	uc001etw.3	Q9BTT0	OTTHUMG00000012547	ENST00000314136.8:c.579G>T	1.37:g.150199042C>A	ENSP00000324074:p.Glu193Asp		B4E0I6|E9PEA6|Q5TB18|Q5TB20|Q8N1S4|Q8WWW9	Missense_Mutation	SNP	ENST00000314136.8	37	CCDS946.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.397|0.397	-0.920493|-0.920493	0.02396|0.02396	.|.	.|.	ENSG00000143401|ENSG00000143401	ENST00000314136;ENST00000369119;ENST00000369116;ENST00000436748;ENST00000534437;ENST00000369115;ENST00000534220|ENST00000533654	T;T;T|T	0.00351|0.00342	7.97;7.97;7.97|8.03	3.62|3.62	-7.24|-7.24	0.01475|0.01475	.|.	.|.	.|.	.|.	.|.	T|T	0.00039|0.00039	0.0001|0.0001	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	B;B;B|B	0.02656|0.02656	0.0;0.0;0.0|0.0	B;B;B|B	0.04013|0.01281	0.001;0.0;0.0|0.0	T|T	0.45877|0.45877	-0.9231|-0.9231	9|9	0.11485|0.62326	T|D	0.65|0.03	.|.	0.0398|0.0398	0.00008|0.00008	0.2803:0.2244:0.1888:0.3065|0.2803:0.2244:0.1888:0.3065	rs28594165|rs28594165	152;193;145|138	E9PEA6;Q9BTT0;Q5TB20|E9PLC4	.;AN32E_HUMAN;.|.	D|M	193;145;61;152;7;61;71|138	ENSP00000324074:E193D;ENSP00000358115:E145D;ENSP00000393718:E152D|ENSP00000435215:R138M	ENSP00000324074:E193D|ENSP00000435215:R138M	E|R	-|-	3|2	2|0	ANP32E|ANP32E	148465666|148465666	0.087000|0.087000	0.21565|0.21565	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-2.245000|-2.245000	0.01192|0.01192	-3.665000|-3.665000	0.00124|0.00124	-2.619000|-2.619000	0.00157|0.00157	GAG|AGG		0.443	ANP32E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035056.1	NM_030920		A	150199042	C	A	150199042	3	1	757	1	0	0	0	0	1	0	0	0	709	680	24	4	239	4	ANP32E	1	150199042	Missense_Mutation	SNP	C	TCGA-KO-8417-01A-11D-2310-10	111735959	150199042	99051579	8	44605	469	2									
ANP32E	81611	ucsc.edu;mdanderson.org	37	1	150199045	150199045	+	Silent	SNP	T	T	C	rs56692627|rs68136184|rs28460085	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr1:150199045T>C	ENST00000314136.8	-	5	945	c.576A>G	c.(574-576)gaA>gaG	p.E192E	ANP32E_ENST00000369116.4_Silent_p.E60E|ANP32E_ENST00000436748.2_Silent_p.E151E|ANP32E_ENST00000533654.1_Missense_Mutation_p.K137R|ANP32E_ENST00000369114.5_Intron|ANP32E_ENST00000369115.2_Silent_p.E60E|ANP32E_ENST00000369119.3_Silent_p.E144E	NM_001136478.2|NM_001280559.1|NM_030920.3	NP_001129950.1|NP_001267488.1|NP_112182.1	Q9BTT0	AN32E_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member E	192	Asp/Glu-rich (highly acidic).				histone exchange (GO:0043486)|negative regulation of catalytic activity (GO:0043086)	cytoplasmic membrane-bounded vesicle (GO:0016023)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	histone binding (GO:0042393)|phosphatase inhibitor activity (GO:0019212)			breast(3)|endometrium(3)|lung(7)|skin(1)|urinary_tract(1)	15	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)			catcctcctcttcctcttcct	0.438																																																0													225	183	197					1																	150199045		2203	4300	6503	SO:0001819	synonymous_variant	81611			AK092672	CCDS946.1, CCDS44214.1, CCDS44215.1, CCDS60245.1	1q22	2008-02-05			ENSG00000143401	ENSG00000143401		"ANP32 acidic nuclear phosphoproteins"	16673	protein-coding gene	gene with protein product		609611				12438741	Standard	NM_030920		Approved	LANPL, MGC5350, LANP-L	uc001etw.3	Q9BTT0	OTTHUMG00000012547	ENST00000314136.8:c.576A>G	1.37:g.150199045T>C			B4E0I6|E9PEA6|Q5TB18|Q5TB20|Q8N1S4|Q8WWW9	Silent	SNP	ENST00000314136.8	37	CCDS946.1	.	.	.	.	.	.	.	.	.	.	T	4.124	0.021213	0.08006	.	.	ENSG00000143401	ENST00000533654	T	0.00337	8.05	4.98	-1.51	0.08664	.	.	.	.	.	T	0.00039	0.0001	.	.	.	0.24003	N	0.996202	B	0.02656	0.0	B	0.04013	0.001	T	0.15925	-1.0420	8	0.56958	D	0.05	.	4.2912	0.10879	0.3012:0.342:0.0:0.3568	rs28460085	137	E9PLC4	.	R	137	ENSP00000435215:K137R	ENSP00000435215:K137R	K	-	2	0	ANP32E	148465669	0.097000	0.21791	0.054000	0.19295	0.014000	0.08584	-2.180000	0.01258	-0.128000	0.11641	-0.366000	0.07423	AAG		0.438	ANP32E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035056.1	NM_030920		C	150199045	T	C	150199045	2	2	757	1	0	0	0	0	0	0	0	1	709	1606	56	3		3	ANP32E	1	150199045	Silent	SNP	T	TCGA-KO-8417-01A-11D-2310-10	3	150199045	99051576	9	44606	469	2									
S100A7A	338324	bcgsc.ca	37	1	153391729	153391729	+	Missense_Mutation	SNP	G	G	A	rs3006414	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr1:153391729G>A	ENST00000368729.4	+	3	307	c.250G>A	c.(250-252)Gca>Aca	p.A84T	S100A7A_ENST00000368728.2_Missense_Mutation_p.A84T|S100A7A_ENST00000329256.2_Missense_Mutation_p.A84T	NM_176823.3	NP_789793.1	Q86SG5	S1A7A_HUMAN	S100 calcium binding protein A7A	84	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.		A -> T (in dbSNP:rs3006414).			cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein self-association (GO:0043621)	p.A84T(1)		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)			AGACATAGCCGCAGACTACCA	0.527													a|||	1047	0.209065	0.4766	0.1686	5008	,	,		16030	0.1379		0.0835	False		,,,				2504	0.0787															1	Substitution - Missense(1)	stomach(1)						A	THR/ALA	1893,2513		408,1077,718	81	76	78		250	-2.9	0	1	dbSNP_101	78	765,7835		32,701,3567	no	missense	S100A7A	NM_176823.3	58	440,1778,4285	AA,AG,GG		8.8953,42.9641,20.4367	benign	84/102	153391729	2658,10348	2203	4300	6503	SO:0001583	missense	338324			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.250G>A	1.37:g.153391729G>A	ENSP00000357718:p.Ala84Thr		D3DV38|Q5SY69	Missense_Mutation	SNP	ENST00000368729.4	37	CCDS30872.1	436	0.19963369963369965	229	0.4654471544715447	55	0.15193370165745856	85	0.1486013986013986	67	0.08839050131926121	.	0.009	-1.820264	0.00595	0.429641	0.088953	ENSG00000184330	ENST00000368729;ENST00000368728;ENST00000329256	T;T;T	0.06142	3.34;3.34;3.34	1.7	-2.9	0.05648	EF-hand-like domain (1);	.	.	.	.	T	0.00328	0.0010	N	0.00289	-1.7	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.37798	-0.9690	8	0.09843	T	0.71	.	3.6925	0.08351	0.2976:0.0:0.4869:0.2155	rs3006414;rs57686181;rs3006414	84	Q86SG5	S1A7A_HUMAN	T	84	ENSP00000357718:A84T;ENSP00000357717:A84T;ENSP00000329008:A84T	ENSP00000329008:A84T	A	+	1	0	S100A7A	151658353	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.964000	0.01512	-1.503000	0.01812	-2.435000	0.00213	GCA		0.527	S100A7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036786.2	NM_176823		A	153391729	G	A	153391729	3	1	757	1	0	0	0	0	1	0	0	0	13790	1087	38	1	256	1	S100A7A	1	153391729	Missense_Mutation	SNP	G	TCGA-KO-8417-01A-11D-2310-10	3192684	153391729	95858892	10	44607											
RHBG	57127	bcgsc.ca	37	1	156351699	156351699	+	Missense_Mutation	SNP	G	G	A	rs3748569	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr1:156351699G>A	ENST00000368249.1	+	6	981	c.943G>A	c.(943-945)Ggg>Agg	p.G315R	RHBG_ENST00000400992.2_Missense_Mutation_p.G283R|RHBG_ENST00000255013.3_Missense_Mutation_p.G246R|RHBG_ENST00000368246.2_Missense_Mutation_p.G315R|RHBG_ENST00000537040.1_Missense_Mutation_p.G153R|RHBG_ENST00000451864.2_Intron	NM_001256396.1|NM_020407.4	NP_001243325.1|NP_065140.3	Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	315			G -> R (in dbSNP:rs3748569). {ECO:0000269|PubMed:15489334}.		ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	anchored component of plasma membrane (GO:0046658)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|spectrin-associated cytoskeleton (GO:0014731)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					CTTCTTGGCTGGGACTGTCTC	0.572													G|||	2728	0.544728	0.5719	0.6037	5008	,	,		18935	0.7014		0.4095	False		,,,				2504	0.4438															0								G	ARG/GLY	2175,1959		576,1023,468	95	106	103		943	4.4	1	1	dbSNP_107	103	3575,4831		782,2011,1410	yes	missense	RHBG	NM_020407.3	125	1358,3034,1878	AA,AG,GG		42.5291,47.3875,45.8533	probably-damaging	315/459	156351699	5750,6790	2067	4203	6270	SO:0001583	missense	57127			AF193807		1q22	2013-05-22	2009-01-22		ENSG00000132677	ENSG00000132677		"Solute carriers"	14572	protein-coding gene	gene with protein product		607079	"Rhesus blood group, B glycoprotein"			10852913	Standard	NM_020407		Approved	SLC42A2	uc010pho.3	Q9H310	OTTHUMG00000024057	ENST00000368249.1:c.943G>A	1.37:g.156351699G>A	ENSP00000357232:p.Gly315Arg		A8K475|Q5SZW4|Q5SZW6|Q5SZW7|Q6P193|Q6YJI2|Q6YJI3	Missense_Mutation	SNP	ENST00000368249.1	37		1209	0.5535714285714286	287	0.5833333333333334	208	0.574585635359116	403	0.7045454545454546	311	0.4102902374670185	G	26.5	4.744673	0.89663	0.526125	0.425291	ENSG00000132677	ENST00000368249;ENST00000368246;ENST00000537040;ENST00000400992;ENST00000255013	T;T;T;T;T	0.38722	1.12;1.12;1.12;1.12;1.12	4.44	4.44	0.53790	Ammonium transporter AmtB-like (3);	0.049574	0.85682	D	0.000000	T	0.67325	0.2881	M	0.93763	3.455	0.09310	P	1.0	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.986;0.998;1.0;0.999	T	0.77643	-0.2511	9	0.72032	D	0.01	-1.7511	14.5902	0.68359	0.0:0.0:1.0:0.0	rs3748569;rs17855953;rs52807244;rs58877861;rs3748569	315;153;283;352	Q9H310;F5GWZ4;Q9H310-3;Q5SZW5	RHBG_HUMAN;.;.;.	R	315;315;153;283;246	ENSP00000357232:G315R;ENSP00000357229:G315R;ENSP00000441197:G153R;ENSP00000383777:G283R;ENSP00000255013:G246R	ENSP00000255013:G246R	G	+	1	0	RHBG	154618323	1.000000	0.71417	0.957000	0.39632	0.996000	0.88848	7.438000	0.80431	2.286000	0.76751	0.561000	0.74099	GGG		0.572	RHBG-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000060589.2	NM_001256395		A	156351699	G	A	156351699	3	1	757	1	0	0	0	0	1	0	0	0	13330	1348	47	2	965	2	RHBG	1	156351699	Missense_Mutation	SNP	G	TCGA-KO-8417-01A-11D-2310-10	2959970	156351699	92898922	11	44608											
ANKRD45	339416	ucsc.edu	37	1	173596257	173596257	+	Missense_Mutation	SNP	A	A	T	rs12059066	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr1:173596257A>T	ENST00000333279.2	-	4	598	c.538T>A	c.(538-540)Tta>Ata	p.L180I		NM_198493.2	NP_940895.1	Q5TZF3	ANR45_HUMAN	ankyrin repeat domain 45	196										NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						GTAACAGCTAAAGAGACTTTT	0.373													A|||	965	0.192692	0.6989	0.0504	5008	,	,		20198	0.0		0.005	False		,,,				2504	0.001															0								A	ILE/LEU	2539,1867	632.6+/-395.9	756,1027,420	145	150	148		538	-3.8	0	1	dbSNP_120	148	32,8568	19.8+/-62.0	0,32,4268	yes	missense	ANKRD45	NM_198493.2	5	756,1059,4688	TT,TA,AA		0.3721,42.374,19.7678	benign	180/267	173596257	2571,10435	2203	4300	6503	SO:0001583	missense	339416				CCDS1309.1	1q25.1	2013-01-10			ENSG00000183831	ENSG00000183831		"Ankyrin repeat domain containing"	24786	protein-coding gene	gene with protein product	"cancer/testis antigen 117"						Standard	NM_198493		Approved	FLJ45235, CT117	uc001gja.1	Q5TZF3	OTTHUMG00000040546	ENST00000333279.2:c.538T>A	1.37:g.173596257A>T	ENSP00000331268:p.Leu180Ile		A1A4G2|Q6ZST1	Missense_Mutation	SNP	ENST00000333279.2	37	CCDS1309.1	377	0.17261904761904762	353	0.717479674796748	20	0.055248618784530384	0	0.0	4	0.005277044854881266	A	11.25	1.583800	0.28268	0.57626	0.003721	ENSG00000183831	ENST00000333279	T	0.13778	2.56	5.35	-3.79	0.04320	.	1.555310	0.03916	N	0.282716	T	0.01870	0.0059	N	0.22421	0.69	0.80722	P	0.0	B	0.27068	0.167	B	0.19148	0.024	T	0.35895	-0.9770	9	0.36615	T	0.2	-17.7491	1.2921	0.02062	0.1379:0.3633:0.2467:0.2521	rs12059066;rs52822128;rs12059066	196	Q5TZF3	ANR45_HUMAN	I	180	ENSP00000331268:L180I	ENSP00000331268:L180I	L	-	1	2	ANKRD45	171862880	0.000000	0.05858	0.000000	0.03702	0.656000	0.38851	-0.559000	0.05971	-1.213000	0.02617	0.455000	0.32223	TTA		0.373	ANKRD45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097580.2	NM_198493		T	173596257	A	T	173596257	3	4	757	1	0	0	0	0	1	0	0	0	673	11	1	5	274	5	ANKRD45	1	173596257	Missense_Mutation	SNP	A	TCGA-KO-8417-01A-11D-2310-10	17244558	173596257	75654364	12	44609											
CACYBP	27101	hgsc.bcm.edu	37	1	174975972	174975972	+	Silent	SNP	A	A	G	rs1802325	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr1:174975972A>G	ENST00000367679.2	+	3	775	c.327A>G	c.(325-327)acA>acG	p.T109T	CACYBP_ENST00000367681.2_Silent_p.T66T|CACYBP_ENST00000405362.1_Silent_p.T66T	NM_014412.2	NP_055227.1	Q9HB71	CYBP_HUMAN	calcyclin binding protein	109	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.|Interaction with SKP1.				aging (GO:0007568)|cardiac muscle cell differentiation (GO:0055007)|cellular response to calcium ion (GO:0071277)|negative regulation of cell death (GO:0060548)|positive regulation of DNA replication (GO:0045740)|response to growth hormone (GO:0060416)	beta-catenin destruction complex (GO:0030877)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nuclear envelope lumen (GO:0005641)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	11						TGCATTTCACAGAGAGGTGAG	0.378													A|||	80	0.0159744	0.0598	0.0014	5008	,	,		19433	0.0		0.0	False		,,,				2504	0.0															0								A	,	284,4122	158.5+/-191.2	11,262,1930	92	85	87		198,327	3.6	1	1	dbSNP_89	87	4,8596	2.2+/-6.3	0,4,4296	no	coding-synonymous,coding-synonymous	CACYBP	NM_001007214.1,NM_014412.2	,	11,266,6226	GG,GA,AA		0.0465,6.4458,2.2144	,	66/186,109/229	174975972	288,12718	2203	4300	6503	SO:0001819	synonymous_variant	27101			BC022352	CCDS1315.1, CCDS30942.1	1q24-q25	2008-02-05			ENSG00000116161	ENSG00000116161			30423	protein-coding gene	gene with protein product		606186				11389839, 12421809	Standard	XM_005245092		Approved	SIP, S100A6BP	uc001gkj.1	Q9HB71	OTTHUMG00000034941	ENST00000367679.2:c.327A>G	1.37:g.174975972A>G			B2ZWH2|B3KSF1|O60666|Q5R370|Q5R371	Silent	SNP	ENST00000367679.2	37	CCDS1315.1																																																																																				0.378	CACYBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084583.3	NM_014412		G	174975972	A	G	174975972	2	3	757	1	0	0	0	0	0	0	0	1	2566	175	7	3		3	CACYBP	1	174975972	Silent	SNP	A	TCGA-KO-8417-01A-11D-2310-10	1379715	174975972	74274649	13	44610											
PROX1	5629	broad.mit.edu;ucsc.edu;mdanderson.org	37	1	214171103	214171103	+	Silent	SNP	C	C	T			TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr1:214171103C>T	ENST00000366958.4	+	2	1833	c.1225C>T	c.(1225-1227)Ctg>Ttg	p.L409L	PROX1_ENST00000435016.1_Silent_p.L409L|PROX1_ENST00000261454.4_Silent_p.L409L|PROX1_ENST00000498508.2_Silent_p.L409L	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	409					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|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)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CAACCAGCGCCTGCAGTGCTT	0.582																																																0													99	101	100					1																	214171103		2203	4300	6503	SO:0001819	synonymous_variant	5629			U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"Homeoboxes / PROS class"	9459	protein-coding gene	gene with protein product		601546	"prospero-related homeobox 1"			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.1225C>T	1.37:g.214171103C>T			A6NK29|A8K2B1|Q5SW76|Q8TB91	Silent	SNP	ENST00000366958.4	37	CCDS31021.1																																																																																				0.582	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		T	214171103	C	T	214171103	2	4	757	1	0	0	0	0	0	0	0	1	12565	680	24	2		2	PROX1	1	214171103	Silent	SNP	C	TCGA-KO-8417-01A-11D-2310-10	39195131	214171103	35079518	14	44611											
ATL2	64225	bcgsc.ca	37	2	38525660	38525660	+	Missense_Mutation	SNP	C	C	G	rs7582826	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr2:38525660C>G	ENST00000378954.4	-	12	1259	c.1258G>C	c.(1258-1260)Gat>Cat	p.D420H	ATL2_ENST00000332337.4_Missense_Mutation_p.D402H|ATL2_ENST00000419554.2_Missense_Mutation_p.D420H|ATL2_ENST00000539122.1_Missense_Mutation_p.D249H|ATL2_ENST00000406122.1_Missense_Mutation_p.D249H|ATL2_ENST00000452935.2_Missense_Mutation_p.D402H|ATL2_ENST00000402054.1_Missense_Mutation_p.D249H|ATL2_ENST00000546051.1_Missense_Mutation_p.D249H	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2	420			D -> H (in dbSNP:rs7582826).		endoplasmic reticulum organization (GO:0007029)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						TCCTTGAGATCCAAGTGTTTT	0.418													C|||	335	0.066893	0.2428	0.0159	5008	,	,		20456	0.0		0.003	False		,,,				2504	0.0															0								C	HIS/ASP,HIS/ASP	866,3540	338.9+/-305.5	83,700,1420	127	125	126		1258,1258	3.6	1	2	dbSNP_116	126	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense	ATL2	NM_001135673.1,NM_022374.2	81,81	83,704,5716	GG,GC,CC		0.0465,19.655,6.6892	benign,benign	420/584,420/580	38525660	870,12136	2203	4300	6503	SO:0001583	missense	64225				CCDS1795.1, CCDS46260.1	2p22.3	2008-09-17	2008-09-17	2008-09-17	ENSG00000119787	ENSG00000119787			24047	protein-coding gene	gene with protein product		609368	"ADP-ribosylation factor-like 6 interacting protein 2"	ARL6IP2		10508919, 18270207	Standard	NM_022374		Approved		uc002rqq.3	Q8NHH9	OTTHUMG00000102074	ENST00000378954.4:c.1258G>C	2.37:g.38525660C>G	ENSP00000368237:p.Asp420His		B7Z1X2|B7Z7X8|Q4ZG30|Q7Z630|Q8NHH8|Q9H5M7	Missense_Mutation	SNP	ENST00000378954.4	37	CCDS46260.1	138	0.06318681318681318	130	0.26422764227642276	7	0.019337016574585635	0	0.0	1	0.0013192612137203166	C	13.53	2.264129	0.39995	0.19655	4.65E-4	ENSG00000119787	ENST00000378954;ENST00000406122;ENST00000402054;ENST00000539122;ENST00000332337;ENST00000419554;ENST00000452935;ENST00000546051	T;T;T;T;T;T;T;T	0.02258	4.37;4.37;4.37;4.37;4.37;4.37;4.37;4.37	5.51	3.6	0.41247	Guanylate-binding protein, C-terminal (3);	0.187724	0.56097	D	0.000028	T	0.00012	0.0000	N	0.02011	-0.69	0.19575	P	0.999962805	P;B;B;B;B	0.43633	0.813;0.0;0.002;0.0;0.001	P;B;B;B;B	0.51055	0.657;0.02;0.012;0.007;0.012	T	0.60347	-0.7281	9	0.40728	T	0.16	-14.0153	10.4882	0.44735	0.0:0.7938:0.1332:0.0731	rs7582826;rs52809531;rs7582826	249;402;402;420;420	B5MCN0;B7Z7X8;Q8NHH9-4;Q8NHH9-2;Q8NHH9	.;.;.;.;ATLA2_HUMAN	H	420;249;249;249;402;420;402;249	ENSP00000368237:D420H;ENSP00000385446:D249H;ENSP00000384062:D249H;ENSP00000446192:D249H;ENSP00000333393:D402H;ENSP00000415336:D420H;ENSP00000390743:D402H;ENSP00000438938:D249H	ENSP00000333393:D402H	D	-	1	0	ATL2	38379164	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.578000	0.46051	1.463000	0.47967	0.591000	0.81541	GAT		0.418	ATL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219886.2	NM_022374		G	38525660	C	G	38525660	3	3	757	1	0	0	0	0	1	0	0	0	1107	855	30	4	613	4	ATL2	2	38525660	Missense_Mutation	SNP	C	TCGA-KO-8417-01A-11D-2310-10		38525660	204673713	15	44612											
CLEC4F	165530	bcgsc.ca	37	2	71043461	71043461	+	Missense_Mutation	SNP	C	C	T	rs722896	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr2:71043461C>T	ENST00000272367.2	-	4	1128	c.1052G>A	c.(1051-1053)cGt>cAt	p.R351H	CLEC4F_ENST00000426626.1_Missense_Mutation_p.R351H	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	351			R -> H (in dbSNP:rs722896).		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						CTGGTCCAGACGGCCATTTGC	0.403													C|||	1693	0.338059	0.1195	0.4006	5008	,	,		21626	0.5248		0.3101	False		,,,				2504	0.4254				Colon(107;10 2157 6841 26035)											0								C	HIS/ARG	739,3667	303.5+/-288.0	60,619,1524	86	83	84		1052	-5.1	0	2	dbSNP_86	84	2597,6003	421.6+/-353.8	431,1735,2134	yes	missense	CLEC4F	NM_173535.2	29	491,2354,3658	TT,TC,CC		30.1977,16.7726,25.6497	benign	351/590	71043461	3336,9670	2203	4300	6503	SO:0001583	missense	165530			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.1052G>A	2.37:g.71043461C>T	ENSP00000272367:p.Arg351His		A4QPA5	Missense_Mutation	SNP	ENST00000272367.2	37	CCDS1910.1	753	0.3447802197802198	58	0.11788617886178862	124	0.3425414364640884	343	0.5996503496503497	228	0.3007915567282322	C	7.700	0.692882	0.15039	0.167726	0.301977	ENSG00000152672	ENST00000272367;ENST00000426626	D;D	0.82893	-1.66;-1.66	3.79	-5.05	0.02955	.	1.546170	0.04013	N	0.298500	T	0.00012	0.0000	N	0.04355	-0.22	0.80722	P	0.0	B;B	0.12630	0.002;0.006	B;B	0.04013	0.001;0.001	T	0.16600	-1.0397	9	0.13470	T	0.59	.	11.5395	0.50659	0.0:0.2236:0.0:0.7764	rs722896;rs59663124;rs722896	351;351	B7ZMM1;Q8N1N0	.;CLC4F_HUMAN	H	351	ENSP00000272367:R351H;ENSP00000390581:R351H	ENSP00000272367:R351H	R	-	2	0	CLEC4F	70896969	0.000000	0.05858	0.000000	0.03702	0.779000	0.44077	-1.034000	0.03567	-1.226000	0.02574	0.467000	0.42956	CGT		0.403	CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251922.1	NM_173535		T	71043461	C	T	71043461	3	4	757	1	0	0	0	0	1	0	0	0	3518	536	19	1	733	1	CLEC4F	2	71043461	Missense_Mutation	SNP	C	TCGA-KO-8417-01A-11D-2310-10	32517801	71043461	172155912	16	44613											
LBX2	85474	ucsc.edu;bcgsc.ca	37	2	74725178	74725178	+	Missense_Mutation	SNP	G	G	A	rs17009998	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr2:74725178G>A	ENST00000377566.4	-	2	651	c.473C>T	c.(472-474)tCc>tTc	p.S158F	AC005041.17_ENST00000479098.1_RNA|LBX2_ENST00000341396.2_3'UTR|LBX2_ENST00000550249.1_5'UTR|LBX2_ENST00000460508.3_Missense_Mutation_p.S154F	NM_001282430.1	NP_001269359.1	Q6XYB7	LBX2_HUMAN	ladybird homeobox 2	158			S -> F (in dbSNP:rs17009998).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1)	4						GACTTCCGGGGACAACGCGCG	0.687													G|||	1668	0.333067	0.1399	0.2579	5008	,	,		15440	0.8204		0.1551	False		,,,				2504	0.3282															0								G	PHE/SER	662,3744	276.3+/-273.0	54,554,1595	49	48	48		461	3	0.2	2	dbSNP_123	48	1139,7459	227.9+/-263.1	77,985,3237	yes	missense	LBX2	NM_001009812.1	155	131,1539,4832	AA,AG,GG		13.2473,15.025,13.8496	probably-damaging	154/195	74725178	1801,11203	2203	4299	6502	SO:0001583	missense	85474			AC005041	CCDS33228.1, CCDS62938.1	2p13.1	2014-05-06	2007-02-15		ENSG00000179528	ENSG00000179528		"Homeoboxes / ANTP class : NKL subclass"	15525	protein-coding gene	gene with protein product		607164	"ladybird homeobox homolog 2 (Drosophila)"			11386758	Standard	NM_001282430		Approved		uc002slw.3	Q6XYB7	OTTHUMG00000170595	ENST00000377566.4:c.473C>T	2.37:g.74725178G>A	ENSP00000366789:p.Ser158Phe		Q7Z5Y8	Missense_Mutation	SNP	ENST00000377566.4	37		718	0.32875457875457875	63	0.12804878048780488	72	0.19889502762430938	471	0.8234265734265734	112	0.14775725593667546	G	15.19	2.759678	0.49468	0.15025	0.132473	ENSG00000179528	ENST00000377566;ENST00000460508	D;D	0.91945	-2.82;-2.94	4.76	2.95	0.34219	.	0.647217	0.13712	N	0.367991	T	0.00012	0.0000	L	0.29908	0.895	0.20563	P	0.999885927	B;B	0.12630	0.006;0.002	B;B	0.19148	0.024;0.002	T	0.44174	-0.9345	9	0.66056	D	0.02	.	7.3598	0.26739	0.0893:0.0:0.7431:0.1677	rs17009998;rs60339187;rs17009998	154;158	Q6XYB7-2;Q6XYB7	.;LBX2_HUMAN	F	158;154	ENSP00000366789:S158F;ENSP00000417116:S154F	ENSP00000366789:S158F	S	-	2	0	LBX2	74578686	0.000000	0.05858	0.178000	0.23040	0.034000	0.12701	0.297000	0.19101	0.605000	0.29947	0.561000	0.74099	TCC		0.687	LBX2-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000328490.1	NM_001009812		A	74725178	G	A	74725178	3	1	757	1	0	0	0	0	1	0	0	0	8656	1174	41	2	127	2	LBX2	2	74725178	Missense_Mutation	SNP	G	TCGA-KO-8417-01A-11D-2310-10	3681717	74725178	168474195	17	44614											
GPD2	2820	bcgsc.ca	37	2	157406249	157406249	+	Missense_Mutation	SNP	G	G	A	rs2116665	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr2:157406249G>A	ENST00000310454.6	+	7	1163	c.791G>A	c.(790-792)cGt>cAt	p.R264H	GPD2_ENST00000409674.1_Missense_Mutation_p.R264H|GPD2_ENST00000438166.2_Missense_Mutation_p.R264H|GPD2_ENST00000409125.4_Missense_Mutation_p.R37H|GPD2_ENST00000540309.1_Missense_Mutation_p.R264H	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	264			R -> H (in dbSNP:rs2116665). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:7821823, ECO:0000269|PubMed:8549872, ECO:0000269|PubMed:8682323, ECO:0000269|PubMed:9110174, ECO:0000269|Ref.4, ECO:0000269|Ref.6, ECO:0000269|Ref.8}.		camera-type eye development (GO:0043010)|cellular lipid metabolic process (GO:0044255)|gluconeogenesis (GO:0006094)|glycerol catabolic process (GO:0019563)|glycerol-3-phosphate metabolic process (GO:0006072)|multicellular organism growth (GO:0035264)|small molecule metabolic process (GO:0044281)	glycerol-3-phosphate dehydrogenase complex (GO:0009331)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|glycerol-3-phosphate dehydrogenase activity (GO:0004368)|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity (GO:0052591)	p.R264H(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						GGGAAAGTGCGTGTGAGCGGC	0.522													G|||	3295	0.657947	0.4849	0.7032	5008	,	,		19139	0.7847		0.6889	False		,,,				2504	0.6973															1	Substitution - Missense(1)	stomach(1)	GRCh37	CM012769	GPD2	M	rs2116665	G	HIS/ARG,HIS/ARG	2093,2313	572.1+/-383.2	503,1087,613	66	63	64		791,791	3.2	0	2	dbSNP_96	64	6102,2498	694.7+/-404.8	2144,1814,342	yes	missense,missense	GPD2	NM_000408.4,NM_001083112.2	29,29	2647,2901,955	AA,AG,GG		29.0465,47.5034,36.9906	possibly-damaging,possibly-damaging	264/728,264/728	157406249	8195,4811	2203	4300	6503	SO:0001583	missense	2820				CCDS2202.1	2q24.1	2013-01-10			ENSG00000115159	ENSG00000115159	1.1.1.8	"EF-hand domain containing"	4456	protein-coding gene	gene with protein product		138430					Standard	NM_001083112		Approved		uc002tzd.4	P43304	OTTHUMG00000131951	ENST00000310454.6:c.791G>A	2.37:g.157406249G>A	ENSP00000308610:p.Arg264His		A8K4V0|B3KSA9|Q59FR1|Q9HAP9	Missense_Mutation	SNP	ENST00000310454.6	37	CCDS2202.1	1431	0.6552197802197802	228	0.4634146341463415	241	0.6657458563535912	441	0.7709790209790209	521	0.6873350923482849	G	7.674	0.687659	0.14973	0.475034	0.709535	ENSG00000115159	ENST00000310454;ENST00000409125;ENST00000438166;ENST00000540309;ENST00000409674	T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27	5.91	3.17	0.36434	FAD dependent oxidoreductase (1);	0.321794	0.38436	N	0.001700	T	0.00012	0.0000	L	0.51422	1.61	0.29245	P	0.872348	B	0.17038	0.02	B	0.15484	0.013	T	0.34800	-0.9814	9	0.51188	T	0.08	.	10.1454	0.42760	0.2664:0.0:0.7336:0.0	rs2116665;rs2228475;rs17847134;rs17858516;rs2116665	264	P43304	GPDM_HUMAN	H	264;37;264;264;264	ENSP00000308610:R264H;ENSP00000386484:R37H;ENSP00000409708:R264H;ENSP00000440892:R264H;ENSP00000386425:R264H	ENSP00000308610:R264H	R	+	2	0	GPD2	157114495	0.930000	0.31532	0.004000	0.12327	0.333000	0.28666	1.958000	0.40402	0.412000	0.25729	0.650000	0.86243	CGT		0.522	GPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254910.3			A	157406249	G	A	157406249	3	1	757	1	0	0	0	0	1	0	0	0	6608	1145	40	1	813	1	GPD2	2	157406249	Missense_Mutation	SNP	G	TCGA-KO-8417-01A-11D-2310-10	82681071	157406249	85793124	18	44615											
PPIG	9360	bcgsc.ca	37	2	170493677	170493677	+	Missense_Mutation	SNP	C	C	G	rs78054206	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr2:170493677C>G	ENST00000260970.3	+	14	2129	c.1909C>G	c.(1909-1911)Caa>Gaa	p.Q637E	PPIG_ENST00000409714.3_Missense_Mutation_p.Q622E|PPIG_ENST00000448752.2_Missense_Mutation_p.Q637E	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	637	Arg/Ser-rich (RS domain).				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)	AGAAGAAAGTCAAAGCAGAAA	0.423													C|||	53	0.0105831	0.0378	0.0043	5008	,	,		19841	0.0		0.0	False		,,,				2504	0.0															0								C	GLU/GLN	127,4279	91.6+/-130.3	1,125,2077	69	70	70		1909	4.7	1	2	dbSNP_132	70	3,8597	3.0+/-9.4	0,3,4297	yes	missense	PPIG	NM_004792.2	29	1,128,6374	GG,GC,CC		0.0349,2.8824,0.9995	benign	637/755	170493677	130,12876	2203	4300	6503	SO:0001583	missense	9360			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.1909C>G	2.37:g.170493677C>G	ENSP00000260970:p.Gln637Glu		D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	Missense_Mutation	SNP	ENST00000260970.3	37	CCDS2235.1	34	0.015567765567765568	32	0.06504065040650407	2	0.0055248618784530384	0	0.0	0	0.0	C	13.29	2.192937	0.38707	0.028824	3.49E-4	ENSG00000138398	ENST00000260970;ENST00000409714;ENST00000448752	T;T;T	0.15834	2.39;2.39;2.39	5.6	4.73	0.59995	.	0.054301	0.85682	D	0.000000	T	0.01029	0.0034	L	0.27053	0.805	0.33842	D	0.631606	B;B;B	0.22800	0.075;0.075;0.075	B;B;B	0.19946	0.027;0.027;0.027	T	0.04115	-1.0976	10	0.87932	D	0	-24.8159	16.0895	0.81082	0.1352:0.8648:0.0:0.0	rs62652316	622;622;637	E9PG73;Q2NKQ6;Q13427	.;.;PPIG_HUMAN	E	637;622;637	ENSP00000260970:Q637E;ENSP00000386245:Q622E;ENSP00000407083:Q637E	ENSP00000260970:Q637E	Q	+	1	0	PPIG	170201923	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	4.558000	0.60789	1.376000	0.46267	-0.189000	0.12847	CAA		0.423	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255264.2			G	170493677	C	G	170493677	3	3	757	1	0	0	0	0	1	0	0	0	12329	827	29	4	1955	4	PPIG	2	170493677	Missense_Mutation	SNP	C	TCGA-KO-8417-01A-11D-2310-10	13087428	170493677	72705696	19	44616											
TTN	7273	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	2	179613962	179613962	+	Intron	SNP	C	C	T	rs72648903	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr2:179613962C>T	ENST00000591111.1	-	45	10585				TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.V4389I|TTN_ENST00000359218.5_Intron|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)			TTAATAGTGACATCACTGAAA	0.343													C|||	95	0.0189696	0.0703	0.0029	5008	,	,		19175	0.0		0.0	False		,,,				2504	0.0															0								C	,,ILE/VAL,,	221,4179	123.7+/-161.0	6,209,1985	57	62	60		,,13165,,	3.4	0	2	dbSNP_130	60	6,8586	3.7+/-12.6	0,6,4290	yes	intron,intron,missense,intron,intron	TTN	NM_003319.4,NM_133378.4,NM_133379.3,NM_133432.3,NM_133437.3	,,29,,	6,215,6275	TT,TC,CC		0.0698,5.0227,1.7472	,,,,	,,4389/5605,,	179613962	227,12765	2200	4296	6496	SO:0001627	intron_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+3888G>A	2.37:g.179613962C>T			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		35	0.016025641025641024	34	0.06910569105691057	1	0.0027624309392265192	0	0.0	0	0.0	C	10.23	1.293061	0.23564	0.050227	6.98E-4	ENSG00000155657	ENST00000360870	T	0.60672	0.17	5.23	3.42	0.39159	.	.	.	.	.	T	0.04452	0.0122	N	0.24115	0.695	0.09310	N	0.999999	B	0.06786	0.001	B	0.06405	0.002	T	0.02126	-1.1209	9	0.16420	T	0.52	.	13.5505	0.61730	0.0:0.8613:0.0:0.1387	.	4389	Q8WZ42-6	.	I	4389	ENSP00000354117:V4389I	ENSP00000354117:V4389I	V	-	1	0	TTN	179322207	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	1.120000	0.31271	0.434000	0.26340	-2.010000	0.00438	GTC		0.343	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179613962	C	T	179613962	1	4	757	0	1	0	0	0	0	0	0	0	16740	478	17	2		2	TTN	2	179613962	Intron	SNP	C	TCGA-KO-8417-01A-11D-2310-10	9120285	179613962	63585411	20	44617											
C2orf88	84281	bcgsc.ca	37	2	191064753	191064753	+	Missense_Mutation	SNP	C	C	T	rs6753459	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr2:191064753C>T	ENST00000340623.4	+	2	578	c.167C>T	c.(166-168)aCt>aTt	p.T56I	C2orf88_ENST00000409870.1_Missense_Mutation_p.T56I|C2orf88_ENST00000443551.2_Missense_Mutation_p.T56I|C2orf88_ENST00000396974.2_Missense_Mutation_p.T56I	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	56	PKA-RI-binding.		T -> I (in dbSNP:rs6753459). {ECO:0000269|PubMed:15489334}.			plasma membrane (GO:0005886)				kidney(1)|large_intestine(1)|lung(1)	3						GGGACCAATACTGTGATCTTG	0.458													T|||	1771	0.353634	0.5008	0.2752	5008	,	,		21385	0.4355		0.2435	False		,,,				2504	0.2393															0								T	ILE/THR,ILE/THR,ILE/THR,ILE/THR	1769,2189		415,939,625	189	191	191		167,167,167,167	-3	0	2	dbSNP_116	191	1970,6336		227,1516,2410	yes	missense,missense,missense,missense	C2orf88	NM_001042519.1,NM_001042520.1,NM_001042521.1,NM_032321.2	89,89,89,89	642,2455,3035	TT,TC,CC		23.7178,44.6943,30.4876	benign,benign,benign,benign	56/96,56/96,56/96,56/96	191064753	3739,8525	1979	4153	6132	SO:0001583	missense	84281			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.167C>T	2.37:g.191064753C>T	ENSP00000345107:p.Thr56Ile		D3DPI3|P0C876|Q53TC7	Missense_Mutation	SNP	ENST00000340623.4	37	CCDS42792.1	810	0.3708791208791209	246	0.5	103	0.2845303867403315	276	0.4825174825174825	185	0.24406332453825857	T	6.053	0.378138	0.11466	0.446943	0.237178	ENSG00000187699	ENST00000396974;ENST00000409545;ENST00000409870;ENST00000340623;ENST00000443551	T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86	5.31	-3.0	0.05480	.	1.022090	0.07888	N	0.970707	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.47711	-0.9096	7	.	.	.	0.2971	8.7611	0.34676	0.0:0.5139:0.114:0.3721	rs6753459;rs17845041;rs17857815;rs56561086;rs61523734;rs6753459	56	Q9BSF0	CB088_HUMAN	I	56	ENSP00000380172:T56I;ENSP00000386976:T56I;ENSP00000386649:T56I;ENSP00000345107:T56I;ENSP00000405225:T56I	.	T	+	2	0	C2orf88	190772998	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.449000	0.02392	-0.951000	0.03654	-2.280000	0.00272	ACT		0.458	C2orf88-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334954.1	NM_032321		T	191064753	C	T	191064753	3	4	757	1	0	0	0	0	1	0	0	0	2204	565	20	2	169	2	C2orf88	2	191064753	Missense_Mutation	SNP	C	TCGA-KO-8417-01A-11D-2310-10	11450791	191064753	52134620	21	44618											
COL4A4	1286	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	2	227924228	227924228	+	Missense_Mutation	SNP	G	G	A	rs36121515	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr2:227924228G>A	ENST00000396625.3	-	28	2483	c.2276C>T	c.(2275-2277)cCg>cTg	p.P759L	COL4A4_ENST00000329662.7_Missense_Mutation_p.P759L	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	759	Triple-helical region.		P -> L (in dbSNP:rs36121515).		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)		AGGGTCTCCCGGGATTCCTTT	0.612													G|||	132	0.0263578	0.0991	0.0014	5008	,	,		13983	0.0		0.0	False		,,,				2504	0.0															0								G	LEU/PRO	308,3354		15,278,1538	78	83	82		2276	5.1	0	2	dbSNP_126	82	5,8139		0,5,4067	yes	missense	COL4A4	NM_000092.4	98	15,283,5605	AA,AG,GG		0.0614,8.4107,2.6512	probably-damaging	759/1691	227924228	313,11493	1831	4072	5903	SO:0001583	missense	1286				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.2276C>T	2.37:g.227924228G>A	ENSP00000379866:p.Pro759Leu		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	CCDS42828.1	46	0.021062271062271064	45	0.09146341463414634	1	0.0027624309392265192	0	0.0	0	0.0	G	20.4	3.975804	0.74360	0.084107	6.14E-4	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.96685	-4.09;-4.09	5.99	5.09	0.68999	.	.	.	.	.	T	0.51227	0.1662	M	0.76838	2.35	0.40369	D	0.979327	P	0.48503	0.911	B	0.33121	0.158	T	0.73379	-0.4001	9	0.49607	T	0.09	.	12.3916	0.55362	0.081:0.0:0.919:0.0	rs36121515;rs61284557	759	P53420	CO4A4_HUMAN	L	759	ENSP00000379866:P759L;ENSP00000328553:P759L	ENSP00000328553:P759L	P	-	2	0	COL4A4	227632472	0.998000	0.40836	0.036000	0.18154	0.993000	0.82548	4.002000	0.57053	1.474000	0.48178	0.655000	0.94253	CCG		0.612	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		A	227924228	G	A	227924228	3	1	757	1	0	0	0	0	1	0	0	0	3695	1116	39	1	2880	1	COL4A4	2	227924228	Missense_Mutation	SNP	G	TCGA-KO-8417-01A-11D-2310-10	36859475	227924228	15275145	22	44619											
UGT1A9	54600	broad.mit.edu;hgsc.bcm.edu	37	2	234581245	234581245	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr2:234581245G>A	ENST00000354728.4	+	1	747	c.665G>A	c.(664-666)cGt>cAt	p.R222H	UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000609637.1_Missense_Mutation_p.R222H|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000373450.4_Intron			O60656	UD19_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A9	222					cellular glucuronidation (GO:0052695)|cellular lipid metabolic process (GO:0044255)|drug metabolic process (GO:0017144)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|xenobiotic glucuronidation (GO:0052697)|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)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)	p.R222H(2)		breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	Acetaminophen(DB00316)|Buprenorphine(DB00921)|Canagliflozin(DB08907)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Entacapone(DB00494)|Etodolac(DB00749)|Ezogabine(DB04953)|Flurbiprofen(DB00712)|Haloperidol(DB00502)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ketobemidone(DB06738)|Lumiracoxib(DB01283)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Nateglinide(DB00731)|Niflumic Acid(DB04552)|Oxazepam(DB00842)|Propofol(DB00818)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sulfamethoxazole(DB01015)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zileuton(DB00744)	TTATGCCACCGTTTTTTCAAA	0.428																																																2	Substitution - Missense(2)	upper_aerodigestive_tract(1)|large_intestine(1)											215	224	221					2																	234581245		2203	4300	6503	SO:0001583	missense	54600			AF056188	CCDS2505.1	2q37	2010-03-05	2005-07-20		ENSG00000241119	ENSG00000241119		"UDP glucuronosyltransferases"	12541	other	complex locus constituent		606434	"UDP glycosyltransferase 1 family, polypeptide A9"			9295054, 1910331	Standard	NM_021027		Approved	HLUGP4, LUGP4, UGT1AI		O60656	OTTHUMG00000059124	ENST00000354728.4:c.665G>A	2.37:g.234581245G>A	ENSP00000346768:p.Arg222His		B8K285|P36509|Q9HAX0	Missense_Mutation	SNP	ENST00000354728.4	37	CCDS2505.1	.	.	.	.	.	.	.	.	.	.	G	4.521	0.096669	0.08681	.	.	ENSG00000241119	ENST00000354728	T	0.63913	-0.07	3.22	-5.2	0.02823	.	.	.	.	.	T	0.30823	0.0777	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	0.19451	-1.0305	9	0.16420	T	0.52	.	1.2724	0.02024	0.3067:0.2019:0.0882:0.4033	.	222;222	Q5DSZ5;O60656	.;UD19_HUMAN	H	222	ENSP00000346768:R222H	ENSP00000346768:R222H	R	+	2	0	UGT1A9	234245984	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.600000	0.05693	-0.368000	0.08040	-0.760000	0.03462	CGT		0.428	UGT1A9-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130995.1	NM_021027		A	234581245	G	A	234581245	3	1	757	1	0	0	0	0	1	0	0	0	16957	1145	40	1	667	1	UGT1A9	2	234581245	Missense_Mutation	SNP	G	TCGA-KO-8417-01A-11D-2310-10	6657017	234581245	8618128	23	44620											
STK25	10494	broad.mit.edu;bcgsc.ca	37	2	242437048	242437048	+	Missense_Mutation	SNP	G	G	A	rs140408761		TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr2:242437048G>A	ENST00000316586.4	-	10	1436	c.1087C>T	c.(1087-1089)Cgg>Tgg	p.R363W	STK25_ENST00000401869.1_Missense_Mutation_p.R363W|STK25_ENST00000543554.1_Missense_Mutation_p.R269W|STK25_ENST00000405883.3_Missense_Mutation_p.R286W|STK25_ENST00000403346.3_Missense_Mutation_p.R363W|STK25_ENST00000535007.1_Missense_Mutation_p.R269W|STK25_ENST00000405585.1_Missense_Mutation_p.R286W|STK25_ENST00000478403.1_5'UTR	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	363					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)		AAGACGGGCCGGACCAGCGTG	0.657																																					NSCLC(99;1100 1566 7679 28647 48345)											0								G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	71	72	71		1087	3.4	1	2	dbSNP_134	71	0,8600		0,0,4300	no	missense	STK25	NM_006374.3	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	363/427	242437048	1,13005	2203	4300	6503	SO:0001583	missense	10494			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.1087C>T	2.37:g.242437048G>A	ENSP00000325748:p.Arg363Trp		A8K6Z3|A8K7D2|B7Z9K1|Q15522|Q5BJF1	Missense_Mutation	SNP	ENST00000316586.4	37	CCDS2549.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.86|16.86	3.240112|3.240112	0.58995|0.58995	2.27E-4|2.27E-4	0.0|0.0	ENSG00000115694|ENSG00000115694	ENST00000423004|ENST00000316586;ENST00000403346;ENST00000401869;ENST00000405883;ENST00000545437;ENST00000405585;ENST00000543554;ENST00000535007	.|T;T;T;T;T;T;T	.|0.38077	.|1.16;1.16;1.16;1.16;1.16;1.16;1.16	5.17|5.17	3.37|3.37	0.38596|0.38596	.|.	.|0.318737	.|0.28630	.|N	.|0.014677	T|T	0.23094|0.23094	0.0558|0.0558	N|N	0.08118|0.08118	0|0	0.35762|0.35762	D|D	0.820274|0.820274	.|P;P;B	.|0.40398	.|0.716;0.716;0.41	.|B;P;B	.|0.44860	.|0.39;0.462;0.339	T|T	0.29640|0.29640	-1.0005|-1.0005	5|10	.|0.66056	.|D	.|0.02	.|.	8.2258|8.2258	0.31568|0.31568	0.0716:0.0:0.6497:0.2787|0.0716:0.0:0.6497:0.2787	.|.	.|289;286;363	.|B4DVS7;A8K6Z3;O00506	.|.;.;STK25_HUMAN	L|W	206|363;363;363;286;269;286;269;269	.|ENSP00000325748:R363W;ENSP00000384162:R363W;ENSP00000385687:R363W;ENSP00000384444:R286W;ENSP00000385541:R286W;ENSP00000444886:R269W;ENSP00000446008:R269W	.|ENSP00000325748:R363W	P|R	-|-	2|1	0|2	STK25|STK25	242085721|242085721	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.808000|0.808000	0.45660|0.45660	3.009000|3.009000	0.49552|0.49552	0.692000|0.692000	0.31613|0.31613	-0.152000|-0.152000	0.13540|0.13540	CCG|CGG		0.657	STK25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257265.4	NM_006374		A	242437048	G	A	242437048	3	1	757	1	0	0	0	0	1	0	0	0	15299	1115	39	1	205	1	STK25	2	242437048	Missense_Mutation	SNP	G	TCGA-KO-8417-01A-11D-2310-10	7855803	242437048	762325	24	44621											
IMPDH2	54870	hgsc.bcm.edu	37	3	49065314	49065314	+	IGR	SNP	G	G	A	rs139765703		TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr3:49065314G>A	ENST00000395443.2	-	0	3549				IMPDH2_ENST00000326739.4_Silent_p.V120V|RP13-131K19.6_ENST00000607245.1_RNA	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)		TGGGGCTGAGGACCACAGGGT	0.537																																																0								G		2,4404	4.2+/-10.8	0,2,2201	60	54	56		360	3.2	1	3	dbSNP_134	56	0,8600		0,0,4300	no	coding-synonymous	IMPDH2	NM_000884.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		120/515	49065314	2,13004	2203	4300	6503	SO:0001628	intergenic_variant	3615				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.49065314G>A			Q4G0F7|Q7L621|Q8TEA5	Silent	SNP	ENST00000395443.2	37	CCDS2787.1	.	.	.	.	.	.	.	.	.	.	G	10.31	1.314174	0.23908	4.54E-4	0.0	ENSG00000178035	ENST00000429182	.	.	.	5.94	3.18	0.36537	.	.	.	.	.	T	0.58864	0.2152	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51926	-0.8643	4	.	.	.	-44.2625	9.3153	0.37930	0.1361:0.4861:0.3778:0.0	.	.	.	.	S	52	.	.	P	-	1	0	IMPDH2	49040318	0.996000	0.38824	1.000000	0.80357	0.968000	0.65278	0.434000	0.21494	0.407000	0.25591	-0.264000	0.10439	CCT		0.537	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730		A	49065314	G	A	49065314	1	1	757	0	1	0	0	0	0	0	0	0	7729	1161	41	2		2	IMPDH2	3	49065314	IGR	SNP	G	TCGA-KO-8417-01A-11D-2310-10		49065314	148957116	25	44622											
LPP	4026	bcgsc.ca	37	3	188327555	188327555	+	Missense_Mutation	SNP	T	T	C	rs7645635	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr3:188327555T>C	ENST00000312675.4	+	6	1282	c.1036T>C	c.(1036-1038)Tat>Cat	p.Y346H	LPP_ENST00000543006.1_Missense_Mutation_p.Y346H|LPP_ENST00000471917.1_3'UTR|LPP_ENST00000448637.1_Missense_Mutation_p.Y346H	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	346	Pro-rich.		Y -> H (in dbSNP:rs7645635).		cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		TCCTGGGATGTATCCAGTCAC	0.522			T	"HMGA2, MLL, C12orf9"	"lipoma, leukemia"								T|||	1002	0.20008	0.7126	0.0764	5008	,	,		18753	0.0		0.005	False		,,,				2504	0.002						Dom	yes		3	3q28	4026	LIM domain containing preferred translocation partner in lipoma		"L, M"	0								T	HIS/TYR,,HIS/TYR	2581,1825		769,1043,391	42	42	42		1036,,1036	6.2	0.9	3	dbSNP_116	42	34,8564		0,34,4265	yes	missense,intron,missense	LPP	NM_001167671.1,NM_001167672.1,NM_005578.3	83,,83	769,1077,4656	CC,CT,TT		0.3954,41.4208,20.1092	probably-damaging,,probably-damaging	346/613,,346/613	188327555	2615,10389	2203	4299	6502	SO:0001583	missense	4026			AL833171	CCDS3291.1	3q27-q28	2004-03-02	2002-01-14		ENSG00000145012	ENSG00000145012			6679	protein-coding gene	gene with protein product		600700	"LIM domain-containing preferred translocation partner in lipoma"			8812423	Standard	XM_005247453		Approved		uc003frs.2	Q93052	OTTHUMG00000156387	ENST00000312675.4:c.1036T>C	3.37:g.188327555T>C	ENSP00000318089:p.Tyr346His		A1L4L6|D3DNV6|Q8NFX5	Missense_Mutation	SNP	ENST00000312675.4	37	CCDS3291.1	360	0.16483516483516483	328	0.6666666666666666	28	0.07734806629834254	0	0.0	4	0.005277044854881266	T	16.16	3.043406	0.55003	0.585792	0.003954	ENSG00000145012	ENST00000448637;ENST00000312675;ENST00000543006;ENST00000415906	T;T;T;T	0.54866	1.79;0.55;0.55;1.41	6.17	6.17	0.99709	.	0.188754	0.37348	N	0.002140	T	0.00012	0.0000	M	0.66939	2.045	0.22050	P	0.999392708	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.965	T	0.47611	-0.9104	9	0.15499	T	0.54	.	16.0034	0.80327	0.0:0.0:0.0:1.0	rs7645635;rs52823079;rs57290235;rs7645635	346;346	C9JUT4;Q93052	.;LPP_HUMAN	H	346;346;346;183	ENSP00000393602:Y346H;ENSP00000318089:Y346H;ENSP00000438891:Y346H;ENSP00000393008:Y183H	ENSP00000318089:Y346H	Y	+	1	0	LPP	189810249	1.000000	0.71417	0.850000	0.33497	0.194000	0.23727	5.358000	0.66064	2.371000	0.80710	0.533000	0.62120	TAT		0.522	LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344030.1	NM_005578		C	188327555	T	C	188327555	3	2	757	1	0	0	0	0	1	0	0	0	8925	1638	57	3	1050	3	LPP	3	188327555	Missense_Mutation	SNP	T	TCGA-KO-8417-01A-11D-2310-10	139262241	188327555	9694875	26	44623											
POLN	353497	mdanderson.org	37	4	2175733	2175733	+	Silent	SNP	A	A	G	rs2022302	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr4:2175733A>G	ENST00000511885.2	-	11	1676	c.1323T>C	c.(1321-1323)caT>caC	p.H441H	POLN_ENST00000515357.1_5'UTR|POLN_ENST00000382865.1_Silent_p.H441H			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	441					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)			CCTGAATGGCATGGCTTTCCA	0.418								DNA polymerases (catalytic subunits)					G|||	1612	0.321885	0.5703	0.2435	5008	,	,		24761	0.373		0.1243	False		,,,				2504	0.1922															0								G		2221,2185	586.4+/-386.5	581,1059,563	270	231	244		1323	-0.9	0	4	dbSNP_94	244	995,7605	773.9+/-407.7	60,875,3365	no	coding-synonymous	POLN	NM_181808.2		641,1934,3928	GG,GA,AA		11.5698,49.5915,24.727		441/901	2175733	3216,9790	2203	4300	6503	SO:0001819	synonymous_variant	353497			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.1323T>C	4.37:g.2175733A>G			A2A336|B4E158|Q4TTW4|Q6ZNF4	Silent	SNP	ENST00000511885.2	37	CCDS3360.1	677	0.309981684981685	281	0.5711382113821138	91	0.2513812154696133	210	0.36713286713286714	95	0.12532981530343007	G	0.009	-1.809418	0.00606	0.504085	0.115698	ENSG00000130997	ENST00000511098	.	.	.	4.28	-0.849	0.10723	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.51012	P	9.80000000000425E-5	.	.	.	.	.	.	T	0.46400	-0.9194	3	.	.	.	-3.7462	9.2076	0.37298	0.5601:0.0:0.4399:0.0	rs2022302;rs61574681;rs2022302	.	.	.	T	75	.	.	M	-	2	0	POLN	2145531	0.000000	0.05858	0.007000	0.13788	0.003000	0.03518	-1.618000	0.02049	-0.617000	0.05664	-2.725000	0.00131	ATG		0.418	POLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205684.2	NM_181808		G	2175733	A	G	2175733	2	3	757	1	0	0	0	0	0	0	0	1	12209	214	8	3		3	POLN	4	2175733	Silent	SNP	A	TCGA-KO-8417-01A-11D-2310-10		2175733	188978543	27	44624											
SLIT2	9353	mdanderson.org	37	4	20535317	20535317	+	Missense_Mutation	SNP	G	G	C			TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr4:20535317G>C	ENST00000504154.1	+	18	2063	c.1811G>C	c.(1810-1812)gGa>gCa	p.G604A	SLIT2_ENST00000503837.1_Missense_Mutation_p.G600A|SLIT2_ENST00000273739.5_Missense_Mutation_p.G608A|SLIT2_ENST00000503823.1_Missense_Mutation_p.G596A	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	604					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						ATGTTCAAGGGATTGGAAAGC	0.383																																																0													159	158	158					4																	20535317		2203	4300	6503	SO:0001583	missense	9353			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"slit (Drosophila) homolog 2"	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.1811G>C	4.37:g.20535317G>C	ENSP00000422591:p.Gly604Ala		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.822940	0.90873	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.25085	1.82;1.82;1.82;1.82	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.55146	0.1902	M	0.80982	2.52	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.75020	0.985;0.967	T	0.61912	-0.6965	10	0.87932	D	0	.	18.4759	0.90792	0.0:0.0:1.0:0.0	.	596;604	O94813-3;O94813	.;SLIT2_HUMAN	A	596;604;608;600;600	ENSP00000427548:G596A;ENSP00000422591:G604A;ENSP00000273739:G608A;ENSP00000422261:G600A	ENSP00000273739:G608A	G	+	2	0	SLIT2	20144415	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.745000	0.98856	2.366000	0.80165	0.561000	0.74099	GGA		0.383	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			C	20535317	G	C	20535317	3	2	757	1	0	0	0	0	1	0	0	0	14746	1174	41	4	1881	4	SLIT2	4	20535317	Missense_Mutation	SNP	G	TCGA-KO-8417-01A-11D-2310-10	18359584	20535317	170618959	28	44625											
BBS12	166379	broad.mit.edu;mdanderson.org	37	4	123663688	123663688	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr4:123663688G>A	ENST00000314218.3	+	2	834	c.641G>A	c.(640-642)cGa>cAa	p.R214Q	BBS12_ENST00000542236.1_Missense_Mutation_p.R214Q	NM_152618.2	NP_689831.2	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	214					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						AACACATCACGAACTCTGAAA	0.398									Bardet-Biedl syndrome																																							0													76	77	77					4																	123663688		2203	4300	6503	SO:0001583	missense	166379	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	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.641G>A	4.37:g.123663688G>A	ENSP00000319062:p.Arg214Gln		D3DNX5|Q7Z342|Q7Z482|Q8NAB8	Missense_Mutation	SNP	ENST00000314218.3	37	CCDS3728.1	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.467434	0.01053	.	.	ENSG00000181004	ENST00000314218;ENST00000542236	T;T	0.67171	-0.25;-0.25	4.99	-2.79	0.05841	.	0.380610	0.26911	N	0.021862	T	0.21590	0.0520	N	0.01048	-1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37244	-0.9714	10	0.02654	T	1	-15.624	2.5248	0.04689	0.4039:0.3436:0.1412:0.1113	.	214	Q6ZW61	BBS12_HUMAN	Q	214	ENSP00000319062:R214Q;ENSP00000438273:R214Q	ENSP00000319062:R214Q	R	+	2	0	BBS12	123883138	0.000000	0.05858	0.000000	0.03702	0.233000	0.25261	0.181000	0.16880	-0.294000	0.08973	-0.451000	0.05528	CGA		0.398	BBS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256710.1	NM_152618		A	123663688	G	A	123663688	3	1	757	1	0	0	0	0	1	0	0	0	1337	1058	37	1	643	1	BBS12	4	123663688	Missense_Mutation	SNP	G	TCGA-KO-8417-01A-11D-2310-10	103128371	123663688	67490588	29	44626											
HCN1	348980	broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	45396746	45396746	+	Missense_Mutation	SNP	C	C	G			TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr5:45396746C>G	ENST00000303230.4	-	4	1135	c.1078G>C	c.(1078-1080)Ggg>Cgg	p.G360R		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	360					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						GCTCCATACCCAATGCACAGC	0.483																																																0													107	93	98					5																	45396746		2203	4300	6503	SO:0001583	missense	348980			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.1078G>C	5.37:g.45396746C>G	ENSP00000307342:p.Gly360Arg			Missense_Mutation	SNP	ENST00000303230.4	37	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.965322	0.92855	.	.	ENSG00000164588	ENST00000303230	D	0.99888	-7.54	5.18	5.18	0.71444	Ion transport (1);	0.186326	0.36101	N	0.002787	D	0.99919	0.9962	H	0.95365	3.66	0.80722	D	1	D	0.67145	0.996	D	0.74674	0.984	D	0.96259	0.9189	10	0.87932	D	0	.	18.8829	0.92364	0.0:1.0:0.0:0.0	.	360	O60741	HCN1_HUMAN	R	360	ENSP00000307342:G360R	ENSP00000307342:G360R	G	-	1	0	HCN1	45432503	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	7.651000	0.83577	2.705000	0.92388	0.650000	0.86243	GGG		0.483	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		G	45396746	C	G	45396746	3	3	757	1	0	0	0	0	1	0	0	0	6998	594	21	4	1614	4	HCN1	5	45396746	Missense_Mutation	SNP	C	TCGA-KO-8417-01A-11D-2310-10		45396746	135518514	30	44627											
CATSPER3	347732	bcgsc.ca	37	5	134343766	134343766	+	Missense_Mutation	SNP	T	T	G	rs3896260	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr5:134343766T>G	ENST00000282611.6	+	4	698	c.612T>G	c.(610-612)aaT>aaG	p.N204K		NM_178019.2	NP_821138.1	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	204			N -> K (in dbSNP:rs3896260).		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)			CTCCAGACAATGGTGACCATG	0.552													G|||	646	0.128994	0.4584	0.0461	5008	,	,		15472	0.0		0.007	False		,,,				2504	0.001															0								G	LYS/ASN	1758,2648	644.5+/-398.0	347,1064,792	184	145	158		612	-2.1	0	5	dbSNP_108	158	24,8576	818.1+/-406.9	0,24,4276	yes	missense	CATSPER3	NM_178019.2	94	347,1088,5068	GG,GT,TT		0.2791,39.9001,13.7014	benign	204/399	134343766	1782,11224	2203	4300	6503	SO:0001583	missense	347732			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.612T>G	5.37:g.134343766T>G	ENSP00000282611:p.Asn204Lys		Q86XS6	Missense_Mutation	SNP	ENST00000282611.6	37	CCDS4181.1	241	0.11034798534798534	221	0.4491869918699187	17	0.04696132596685083	0	0.0	3	0.00395778364116095	G	0.003	-2.468589	0.00169	0.399001	0.002791	ENSG00000152705	ENST00000282611	D	0.97553	-4.43	4.33	-2.08	0.07254	Ion transport (1);	1.918400	0.01976	N	0.044466	T	0.00012	0.0000	N	0.02539	-0.55	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.50440	-0.8828	8	.	.	.	1.4415	0.1834	0.00126	0.2523:0.1883:0.202:0.3574	rs3896260;rs52815255;rs60117234;rs3896260	204	Q86XQ3	CTSR3_HUMAN	K	204	ENSP00000282611:N204K	.	N	+	3	2	CATSPER3	134371665	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-1.154000	0.03166	-0.973000	0.03555	-0.358000	0.07595	AAT		0.552	CATSPER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251191.2	NM_178019		G	134343766	T	G	134343766	3	3	757	1	0	0	0	0	1	0	0	0	2691	1461	51	5	626	5	CATSPER3	5	134343766	Missense_Mutation	SNP	T	TCGA-KO-8417-01A-11D-2310-10	88947020	134343766	46571494	31	44628											
PCDHA6	56142	mdanderson.org	37	5	140207965	140207965	+	Missense_Mutation	SNP	G	G	C	rs150162226	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr5:140207965G>C	ENST00000529310.1	+	1	403	c.289G>C	c.(289-291)Ggg>Cgg	p.G97R	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.G97R|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_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	97	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	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)			GGAGCTGTGCGGGCGGAGCGC	0.577																																																0													111	127	121					5																	140207965		2203	4291	6494	SO:0001583	missense	56142			AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"Cadherins / Protocadherins : Clustered"	8672	other	complex locus constituent	"KIAA0345-like 8"	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.289G>C	5.37:g.140207965G>C	ENSP00000433378:p.Gly97Arg		O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	G	9.482	1.098477	0.20552	.	.	ENSG00000081842	ENST00000529310;ENST00000527624	T;T	0.30981	1.51;1.51	3.87	3.87	0.44632	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.213176	0.22539	U	0.058753	T	0.37945	0.1022	M	0.70595	2.14	0.26008	N	0.98203	D;P;P	0.56287	0.975;0.915;0.791	P;P;P	0.46389	0.515;0.49;0.51	T	0.34625	-0.9821	10	0.51188	T	0.08	.	12.2854	0.54789	0.0:0.1713:0.8287:0.0	.	97;97;97	Q9UN73-3;Q9UN73;Q9UN73-2	.;PCDA6_HUMAN;.	R	97	ENSP00000433378:G97R;ENSP00000434113:G97R	ENSP00000434113:G97R	G	+	1	0	PCDHA6	140188149	0.984000	0.35163	1.000000	0.80357	0.243000	0.25628	5.505000	0.66981	2.139000	0.66308	0.313000	0.20887	GGG		0.577	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		C	140207965	G	C	140207965	3	2	757	1	0	0	0	0	1	0	0	0	11530	1116	39	4	291	4	PCDHA6	5	140207965	Missense_Mutation	SNP	G	TCGA-KO-8417-01A-11D-2310-10	5864199	140207965	40707295	32	44629											
PCDH12	51294	hgsc.bcm.edu	37	5	141324954	141324954	+	Missense_Mutation	SNP	A	A	T	rs200120809		TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr5:141324954A>T	ENST00000231484.3	-	4	4757	c.3547T>A	c.(3547-3549)Tgc>Agc	p.C1183S		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	1183					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)			GTTCACAGGCACctgctgctg	0.562																																																0													22	23	23					5																	141324954		2201	4290	6491	SO:0001583	missense	51294			AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"Cadherins / Protocadherins : Non-clustered"	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.3547T>A	5.37:g.141324954A>T	ENSP00000231484:p.Cys1183Ser		Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Missense_Mutation	SNP	ENST00000231484.3	37	CCDS4269.1	.	.	.	.	.	.	.	.	.	.	A	2.539	-0.306764	0.05458	.	.	ENSG00000113555	ENST00000231484	T	0.48836	0.8	5.54	3.42	0.39159	.	0.703549	0.13113	N	0.412850	T	0.22666	0.0547	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.09377	0.004	T	0.19745	-1.0296	10	0.20046	T	0.44	.	3.9309	0.09285	0.3566:0.4726:0.0:0.1708	.	1183	Q9NPG4	PCD12_HUMAN	S	1183	ENSP00000231484:C1183S	ENSP00000231484:C1183S	C	-	1	0	PCDH12	141305138	0.000000	0.05858	0.112000	0.21494	0.305000	0.27757	0.199000	0.17237	0.589000	0.29677	0.533000	0.62120	TGC		0.562	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		T	141324954	A	T	141324954	3	4	757	1	0	0	0	0	1	0	0	0	11512	159	6	5	11	5	PCDH12	5	141324954	Missense_Mutation	SNP	A	TCGA-KO-8417-01A-11D-2310-10	1116989	141324954	39590306	33	44630											
SOX30	11063	broad.mit.edu	37	5	157078493	157078493	+	Silent	SNP	G	G	A	rs371262922		TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr5:157078493G>A	ENST00000265007.6	-	1	935	c.594C>T	c.(592-594)ggC>ggT	p.G198G	SOX30_ENST00000519442.1_Intron|SOX30_ENST00000311371.5_Silent_p.G198G	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	198					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to corticosteroid (GO:0031960)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	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)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	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)			TGCCTGCCCCGCCTTGCATCG	0.657																																					Esophageal Squamous(31;525 799 19355 21125 41744)											0													64	75	71					5																	157078493		2197	4289	6486	SO:0001819	synonymous_variant	11063			AB022083	CCDS4339.1, CCDS4340.1	5q33	2010-10-21			ENSG00000039600	ENSG00000039600		"SRY (sex determining region Y)-boxes"	30635	protein-coding gene	gene with protein product		606698				15019997, 11678506	Standard	NM_178424		Approved		uc003lxb.1	O94993	OTTHUMG00000130247	ENST00000265007.6:c.594C>T	5.37:g.157078493G>A			O94995|Q8IYX6	Silent	SNP	ENST00000265007.6	37	CCDS4339.1																																																																																				0.657	SOX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252571.2	NM_007017		A	157078493	G	A	157078493	2	1	757	1	0	0	0	0	0	0	0	1	14958	1074	38	1		1	SOX30	5	157078493	Silent	SNP	G	TCGA-KO-8417-01A-11D-2310-10	15753539	157078493	23836767	34	44631											
CDHR2	54825	mdanderson.org	37	5	175992370	175992370	+	Missense_Mutation	SNP	T	T	C	rs114786529	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr5:175992370T>C	ENST00000510636.1	+	2	291	c.17T>C	c.(16-18)cTg>cCg	p.L6P	CDHR2_ENST00000506348.1_Missense_Mutation_p.L6P|CDHR2_ENST00000261944.5_Missense_Mutation_p.L6P	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	6					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						CAGCTATGGCTGTCCTGCTTC	0.617													T|||	41	0.0081869	0.0272	0.0072	5008	,	,		20034	0.0		0.0	False		,,,				2504	0.0															0								T	PRO/LEU,PRO/LEU	83,4323	72.0+/-110.0	0,83,2120	185	141	156		17,17	4.4	1	5	dbSNP_132	156	17,8583	12.6+/-44.7	0,17,4283	yes	missense,missense	CDHR2	NM_001171976.1,NM_017675.4	98,98	0,100,6403	CC,CT,TT		0.1977,1.8838,0.7689	probably-damaging,probably-damaging	6/1311,6/1311	175992370	100,12906	2203	4300	6503	SO:0001583	missense	54825			AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"Cadherins / Cadherin-related"	18231	protein-coding gene	gene with protein product	"protocadherin LKC"		"protocadherin 24"	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.17T>C	5.37:g.175992370T>C	ENSP00000424565:p.Leu6Pro		A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	ENST00000510636.1	37	CCDS34297.1	22	0.010073260073260074	20	0.04065040650406504	2	0.0055248618784530384	0	0.0	0	0.0	T	12.99	2.102143	0.37048	0.018838	0.001977	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.57436	0.4;0.4;0.4	4.36	4.36	0.52297	.	.	.	.	.	T	0.28001	0.0690	L	0.38838	1.175	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.50550	-0.8815	9	0.62326	D	0.03	-15.2557	10.1165	0.42593	0.0:0.0:0.0:1.0	.	6	Q9BYE9	CDHR2_HUMAN	P	6	ENSP00000424565:L6P;ENSP00000261944:L6P;ENSP00000421078:L6P	ENSP00000261944:L6P	L	+	2	0	CDHR2	175924976	1.000000	0.71417	0.994000	0.49952	0.126000	0.20510	1.468000	0.35332	1.962000	0.57031	0.459000	0.35465	CTG		0.617	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		C	175992370	T	C	175992370	3	2	757	1	0	0	0	0	1	0	0	0	3121	1580	55	3	19	3	CDHR2	5	175992370	Missense_Mutation	SNP	T	TCGA-KO-8417-01A-11D-2310-10	18913877	175992370	4922890	35	44632											
ADAMTS2	9509	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	5	178580530	178580530	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr5:178580530G>A	ENST00000251582.7	-	9	1578	c.1477C>T	c.(1477-1479)Cgc>Tgc	p.R493C	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.R493C	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	493	Disintegrin.				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)		AAGTCAAAGCGGCATTGCTCG	0.662																																																0													76	59	65					5																	178580530		2202	4300	6502	SO:0001583	missense	9509			AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"ADAM metallopeptidases with thrombospondin type 1 motif"	218	protein-coding gene	gene with protein product	"procollagen I N-proteinase", "procollagen N-endopeptidase"	604539	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.1477C>T	5.37:g.178580530G>A	ENSP00000251582:p.Arg493Cys			Missense_Mutation	SNP	ENST00000251582.7	37	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.125084	0.77436	.	.	ENSG00000087116	ENST00000251582;ENST00000274609	T;T	0.71103	-0.54;-0.54	4.58	3.69	0.42338	Metallopeptidase, catalytic domain (1);	0.105625	0.42548	D	0.000696	D	0.84857	0.5565	M	0.89095	3.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.995;0.998	D	0.86522	0.1816	10	0.87932	D	0	.	11.2801	0.49188	0.0:0.0:0.6691:0.3309	.	493;493	O95450-2;O95450	.;ATS2_HUMAN	C	493	ENSP00000251582:R493C;ENSP00000274609:R493C	ENSP00000251582:R493C	R	-	1	0	ADAMTS2	178513136	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.578000	0.82498	1.000000	0.39049	0.462000	0.41574	CGC		0.662	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		A	178580530	G	A	178580530	3	1	757	1	0	0	0	0	1	0	0	0	265	1116	39	1	2289	1	ADAMTS2	5	178580530	Missense_Mutation	SNP	G	TCGA-KO-8417-01A-11D-2310-10	2588160	178580530	2334730	36	44633											
HLA-C	3107	mdanderson.org	37	6	31238859	31238859	+	Missense_Mutation	SNP	G	G	C	rs41555616		TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr6:31238859G>C	ENST00000376228.5	-	3	624	c.610C>G	c.(610-612)Cag>Gag	p.Q204E	HLA-C_ENST00000383329.3_Missense_Mutation_p.Q204E	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	204	Alpha-2.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						CCTGCGCGCTGCAGCGTCTCC	0.657																																																0													51	44	46					6																	31238859		2202	4300	6502	SO:0001583	missense	3107			M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4933	protein-coding gene	gene with protein product		142840	"psoriasis susceptibility 1"	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.610C>G	6.37:g.31238859G>C	ENSP00000365402:p.Gln204Glu		O02864|O02958|Q29643|Q9MY30	Missense_Mutation	SNP	ENST00000376228.5	37	CCDS34393.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	7.911|7.911	0.736528|0.736528	0.15574|0.15574	.|.	.|.	ENSG00000204525|ENSG00000204525	ENST00000415537|ENST00000376228;ENST00000383329;ENST00000396254;ENST00000539307	.|T;T	.|0.00008	.|9.55;9.55	2.55|2.55	1.64|1.64	0.23874|0.23874	.|MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.|2.663580	.|0.02242	.|U	.|0.065850	T|T	0.00039|0.00039	0.0001|0.0001	L|L	0.50847|0.50847	1.595|1.595	0.24729|0.24729	N|N	0.993107|0.993107	.|B;B;B;B	.|0.02656	.|0.0;0.0;0.0;0.0	.|B;B;B;B	.|0.06405	.|0.001;0.0;0.0;0.002	T|T	0.46428|0.46428	-0.9192|-0.9192	5|10	.|0.72032	.|D	.|0.01	.|.	5.1171|5.1171	0.14840|0.14840	0.0:0.2329:0.529:0.2381|0.0:0.2329:0.529:0.2381	rs41555616|rs41555616	.|204;204;204;204	.|A2AEA4;A6H578;A2AEA2;P10321	.|.;.;.;1C07_HUMAN	G|E	203|204;204;204;241	.|ENSP00000365402:Q204E;ENSP00000372819:Q204E	.|ENSP00000365402:Q204E	A|Q	-|-	2|1	0|0	HLA-C|HLA-C	31346838|31346838	0.867000|0.867000	0.29959|0.29959	0.825000|0.825000	0.32803|0.32803	0.053000|0.053000	0.15095|0.15095	1.230000|1.230000	0.32612|0.32612	0.606000|0.606000	0.29965|0.29965	0.305000|0.305000	0.20034|0.20034	GCA|CAG		0.657	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076281.3	NM_002117		C	31238859	G	C	31238859	3	2	757	1	0	0	0	0	1	0	0	0	7199	1328	46	4	514	4	HLA-C	6	31238859	Missense_Mutation	SNP	G	TCGA-KO-8417-01A-11D-2310-10		31238859	139876208	37	44634											
HLA-DRB1	3123	mdanderson.org	37	6	32548534	32548534	+	Missense_Mutation	SNP	C	C	T	rs71547382		TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr6:32548534C>T	ENST00000360004.5	-	4	857	c.752G>A	c.(751-753)aGg>aAg	p.R251K		NM_002124.3	NP_002115.2	Q30167	2B1A_HUMAN	major histocompatibility complex, class II, DR beta 1	251					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						TTTCTGATTCCTGAAGTAGAT	0.537										Multiple Myeloma(14;0.17)																																						0																																										SO:0001583	missense	3123			AJ297583	CCDS47409.1	6p21.3	2013-01-11			ENSG00000196126	ENSG00000196126		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4948	protein-coding gene	gene with protein product		142857		HLA-DR1B			Standard	NM_001243965		Approved		uc011eri.2	P01911	OTTHUMG00000031196	ENST00000360004.5:c.752G>A	6.37:g.32548534C>T	ENSP00000353099:p.Arg251Lys		P01914|Q9MYF5	Missense_Mutation	SNP	ENST00000360004.5	37	CCDS47409.1	.	.	.	.	.	.	.	.	.	.	.	12.57	1.976489	0.34848	.	.	ENSG00000196126	ENST00000360004	T	0.00635	6.06	3.98	1.66	0.24008	.	0.334220	0.32578	N	0.005907	T	0.00241	0.0007	L	0.33710	1.025	0.28819	N	0.897785	B;B;B	0.18166	0.026;0.026;0.0	B;B;B	0.17979	0.02;0.02;0.001	T	0.44757	-0.9307	10	0.38643	T	0.18	.	6.6584	0.23000	0.0:0.6946:0.0:0.3054	.	251;251;251	P04229;Q29974;P01911	2B11_HUMAN;2B1G_HUMAN;2B1F_HUMAN	K	251	ENSP00000353099:R251K	ENSP00000353099:R251K	R	-	2	0	HLA-DRB1	32656512	0.000000	0.05858	0.929000	0.37066	0.845000	0.48019	-0.186000	0.09670	0.802000	0.34089	0.453000	0.30009	AGG		0.537	HLA-DRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076393.3	NM_002124		T	32548534	C	T	32548534	3	4	757	1	0	0	0	0	1	0	0	0	7210	681	24	2	60	2	HLA-DRB1	6	32548534	Missense_Mutation	SNP	C	TCGA-KO-8417-01A-11D-2310-10	1309675	32548534	138566533	38	44635											
CAPN11	11131	hgsc.bcm.edu;bcgsc.ca	37	6	44137081	44137081	+	Missense_Mutation	SNP	G	G	T			TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr6:44137081G>T	ENST00000398776.1	+	3	190	c.152G>T	c.(151-153)gGc>gTc	p.G51V	CAPN11_ENST00000542245.1_Missense_Mutation_p.G51V	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	51					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)			AAGGCCAAGGGCGTGGGCCAG	0.507																																																0													40	42	41					6																	44137081		1926	4136	6062	SO:0001583	missense	11131			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.152G>T	6.37:g.44137081G>T	ENSP00000381758:p.Gly51Val		B2RA64|Q5T3G1|Q8N4R5	Missense_Mutation	SNP	ENST00000398776.1	37	CCDS47436.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.976740	0.53720	.	.	ENSG00000137225	ENST00000398776;ENST00000542245;ENST00000532171	D;D;T	0.97209	-4.29;-4.29;0.98	4.1	4.1	0.47936	.	0.138591	0.33691	N	0.004649	D	0.97720	0.9252	M	0.63208	1.945	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97601	1.0123	10	0.52906	T	0.07	.	16.5907	0.84764	0.0:0.0:1.0:0.0	.	51	Q9UMQ6	CAN11_HUMAN	V	51;51;81	ENSP00000381758:G51V;ENSP00000441078:G51V;ENSP00000432420:G81V	ENSP00000381758:G51V	G	+	2	0	CAPN11	44245059	1.000000	0.71417	0.540000	0.28089	0.016000	0.09150	7.713000	0.84693	2.574000	0.86865	0.650000	0.86243	GGC		0.507	CAPN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040714.3			T	44137081	G	T	44137081	3	4	757	1	0	0	0	0	1	0	0	0	2626	1203	42	4	162	4	CAPN11	6	44137081	Missense_Mutation	SNP	G	TCGA-KO-8417-01A-11D-2310-10	11588547	44137081	126977986	39	44636											
ANKMY2	57037	ucsc.edu	37	7	16642116	16642116	+	Missense_Mutation	SNP	T	T	G			TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr7:16642116T>G	ENST00000306999.2	-	9	1273	c.1030A>C	c.(1030-1032)Acc>Ccc	p.T344P		NM_020319.2	NP_064715.1	Q8IV38	ANKY2_HUMAN	ankyrin repeat and MYND domain containing 2	344						cilium (GO:0005929)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		TTCTGGCAGGTTTGATCACAA	0.363																																																0													142	139	140					7																	16642116		2201	4300	6501	SO:0001583	missense	57037			AK001740	CCDS5361.1	7p21	2013-01-10			ENSG00000106524	ENSG00000106524		"Zinc fingers, MYND-type", "Ankyrin repeat domain containing"	25370	protein-coding gene	gene with protein product						12477932	Standard	NM_020319		Approved	DKFZP564O043, ZMYND20	uc003sti.3	Q8IV38	OTTHUMG00000090806	ENST00000306999.2:c.1030A>C	7.37:g.16642116T>G	ENSP00000303570:p.Thr344Pro		A4D124|Q659G1|Q96BL3	Missense_Mutation	SNP	ENST00000306999.2	37	CCDS5361.1	.	.	.	.	.	.	.	.	.	.	T	9.066	0.995639	0.19043	.	.	ENSG00000106524	ENST00000306999	T	0.71341	-0.56	5.27	2.84	0.33178	Zinc finger, MYND-type (3);	0.409722	0.30930	N	0.008582	T	0.62109	0.2401	L	0.52011	1.625	0.22771	N	0.998754	B	0.34349	0.45	B	0.35278	0.199	T	0.50162	-0.8860	10	0.36615	T	0.2	0.0514	9.3128	0.37915	0.1121:0.066:0.0:0.8219	.	344	Q8IV38	ANKY2_HUMAN	P	344	ENSP00000303570:T344P	ENSP00000303570:T344P	T	-	1	0	ANKMY2	16608641	0.996000	0.38824	0.983000	0.44433	0.849000	0.48306	1.904000	0.39868	0.008000	0.14787	-2.866000	0.00100	ACC		0.363	ANKMY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207600.2	NM_020319		G	16642116	T	G	16642116	3	3	757	1	0	0	0	0	1	0	0	0	635	1725	60	5	303	5	ANKMY2	7	16642116	Missense_Mutation	SNP	T	TCGA-KO-8417-01A-11D-2310-10		16642116	142496547	40	44637											
PPP1R9A	55607	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	7	94827677	94827677	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr7:94827677G>A	ENST00000433881.1	+	6	2303	c.1771G>A	c.(1771-1773)Gaa>Aaa	p.E591K	PPP1R9A_ENST00000340694.4_Missense_Mutation_p.E591K|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.E591K|PPP1R9A_ENST00000289495.5_Missense_Mutation_p.E591K|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.E591K|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.E591K|AC002429.5_ENST00000417881.2_RNA			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	591	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)		p.E591*(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TATTGGGCGGGAAAAACCAGG	0.448										HNSCC(28;0.073)																																						2	Substitution - Nonsense(2)	lung(2)											77	78	78					7																	94827677		2203	4300	6503	SO:0001583	missense	55607			AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Sterile alpha motif (SAM) domain containing"	14946	protein-coding gene	gene with protein product		602468	"protein phosphatase 1, regulatory (inhibitor) subunit 9A"			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.1771G>A	7.37:g.94827677G>A	ENSP00000398870:p.Glu591Lys		A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	ENST00000433881.1	37	CCDS34683.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.048562	0.75846	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	T;T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14;1.14	5.61	5.61	0.85477	PDZ/DHR/GLGF (3);	0.000000	0.85682	D	0.000000	T	0.54854	0.1884	L	0.41632	1.29	0.80722	D	1	D;D;D;D;D	0.89917	0.995;1.0;1.0;0.998;0.998	D;D;D;D;D	0.85130	0.978;0.997;0.997;0.973;0.986	T	0.54536	-0.8279	10	0.87932	D	0	.	20.0173	0.97481	0.0:0.0:1.0:0.0	.	591;591;591;591;591	B7ZLX4;F8W7J9;E9PDX1;E9PCK6;Q9ULJ8	.;.;.;.;NEB1_HUMAN	K	591	ENSP00000405514:E591K;ENSP00000344524:E591K;ENSP00000411342:E591K;ENSP00000398870:E591K;ENSP00000289495:E591K;ENSP00000402893:E591K	ENSP00000289495:E591K	E	+	1	0	PPP1R9A	94665613	1.000000	0.71417	0.998000	0.56505	0.038000	0.13279	9.718000	0.98758	2.814000	0.96858	0.591000	0.81541	GAA		0.448	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160		A	94827677	G	A	94827677	3	1	757	1	0	0	0	0	1	0	0	0	12383	1175	41	2	1789	2	PPP1R9A	7	94827677	Missense_Mutation	SNP	G	TCGA-KO-8417-01A-11D-2310-10	78185561	94827677	64310986	41	44638											
DEFA6	1671	hgsc.bcm.edu	37	8	6783459	6783459	+	Silent	SNP	A	A	C	rs13439322	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr8:6783459A>C	ENST00000297436.2	-	1	139	c.99T>G	c.(97-99)gcT>gcG	p.A33A	GS1-24F4.3_ENST00000526235.1_RNA	NM_001926.3	NP_001917.1	Q01524	DEF6_HUMAN	defensin, alpha 6, Paneth cell-specific	33					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)				lung(4)	4			STAD - Stomach adenocarcinoma(24;0.0322)	COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		CAGCCTCATAAGCTTTTGCCT	0.557													a|||	259	0.0517173	0.1899	0.0101	5008	,	,		21955	0.001		0.0	False		,,,				2504	0.0															0								A		731,3675		66,599,1538	67	54	59		99	0.6	0	8	dbSNP_121	59	5,8595		0,5,4295	no	coding-synonymous	DEFA6	NM_001926.3		66,604,5833	CC,CA,AA		0.0581,16.591,5.6589		33/101	6783459	736,12270	2203	4300	6503	SO:0001819	synonymous_variant	1671			M98331	CCDS5960.1	8p23.1	2007-02-20			ENSG00000164822	ENSG00000164822		"Defensins, alpha"	2765	protein-coding gene	gene with protein product		600471				8417977	Standard	NM_001926		Approved	HD-6, DEF6	uc003wqt.3	Q01524	OTTHUMG00000149984	ENST00000297436.2:c.99T>G	8.37:g.6783459A>C			Q6EZF9	Silent	SNP	ENST00000297436.2	37	CCDS5960.1																																																																																				0.557	DEFA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206739.1	NM_001926		C	6783459	A	C	6783459	2	2	757	1	0	0	0	0	0	0	0	1	4395	59	3	5		5	DEFA6	8	6783459	Silent	SNP	A	TCGA-KO-8417-01A-11D-2310-10		6783459	139580563	42	44639											
EBF2	64641	bcgsc.ca	37	8	25708131	25708131	+	Missense_Mutation	SNP	C	C	T	rs17054477	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr8:25708131C>T	ENST00000520164.1	-	15	2212	c.1675G>A	c.(1675-1677)Ggc>Agc	p.G559S	EBF2_ENST00000535548.1_3'UTR|EBF2_ENST00000408929.3_Missense_Mutation_p.G411S	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	559			G -> S (in dbSNP:rs17054477).		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)		TTTCCATTGCCGCTGGAGCAG	0.488													C|||	192	0.0383387	0.1377	0.0101	5008	,	,		20848	0.001		0.0	False		,,,				2504	0.002				Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)											0								C	SER/GLY	378,3518		19,340,1589	129	126	127		1675	5.4	1	8	dbSNP_123	127	28,8236		0,28,4104	yes	missense	EBF2	NM_022659.2	56	19,368,5693	TT,TC,CC		0.3388,9.7023,3.3388	benign	559/576	25708131	406,11754	1948	4132	6080	SO:0001583	missense	64641			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.1675G>A	8.37:g.25708131C>T	ENSP00000430241:p.Gly559Ser		A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	Missense_Mutation	SNP	ENST00000520164.1	37	CCDS43726.1	83	0.038003663003663	77	0.1565040650406504	4	0.011049723756906077	2	0.0034965034965034965	0	0.0	C	11.94	1.788711	0.31685	0.097023	0.003388	ENSG00000221818	ENST00000520164;ENST00000408929	T;T	0.40756	1.02;1.02	5.45	5.45	0.79879	.	0.181162	0.48286	D	0.000190	T	0.00073	0.0002	N	0.02247	-0.625	0.09310	P	1.0	B	0.02656	0.0	B	0.04013	0.001	T	0.10683	-1.0619	9	0.19590	T	0.45	-17.0497	14.4976	0.67700	0.1468:0.8532:0.0:0.0	rs17054477;rs52802933;rs17054477	559	Q9HAK2	COE2_HUMAN	S	559;411	ENSP00000430241:G559S;ENSP00000386178:G411S	ENSP00000386178:G411S	G	-	1	0	EBF2	25764048	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	3.857000	0.55972	2.714000	0.92807	0.563000	0.77884	GGC		0.488	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375886.2	NM_022659		T	25708131	C	T	25708131	3	4	757	1	0	0	0	0	1	0	0	0	4883	652	23	1	60	1	EBF2	8	25708131	Missense_Mutation	SNP	C	TCGA-KO-8417-01A-11D-2310-10	18924672	25708131	120655891	43	44640											
PCMTD1	115294	mdanderson.org	37	8	52733214	52733214	+	Missense_Mutation	SNP	A	A	C	rs200377849		TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr8:52733214A>C	ENST00000360540.5	-	7	1177	c.771T>G	c.(769-771)aaT>aaG	p.N257K	PCMTD1_ENST00000522514.1_Missense_Mutation_p.N257K|PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000544451.1_Missense_Mutation_p.N181K	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	257						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)	p.N257K(1)		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)				CATTTATGAAATTTCTAAGTG	0.388																																																1	Substitution - Missense(1)	skin(1)											78	81	80					8																	52733214		2203	4300	6503	SO:0001583	missense	115294				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.771T>G	8.37:g.52733214A>C	ENSP00000353739:p.Asn257Lys		Q96FK9	Missense_Mutation	SNP	ENST00000360540.5	37	CCDS6148.1	.	.	.	.	.	.	.	.	.	.	A	12.61	1.991059	0.35131	.	.	ENSG00000168300	ENST00000360540;ENST00000544451;ENST00000522514	T;T;T	0.47528	0.84;0.84;0.84	5.56	-0.996	0.10218	.	0.046341	0.85682	D	0.000000	T	0.38983	0.1061	N	0.20530	0.585	0.53005	D	0.999961	P;D;B	0.65815	0.651;0.995;0.002	B;P;B	0.60886	0.122;0.88;0.002	T	0.41556	-0.9502	10	0.02654	T	1	-22.28	11.477	0.50304	0.3747:0.0:0.6253:0.0	.	127;181;257	B4E2B4;F5H1M8;Q96MG8	.;.;PCMD1_HUMAN	K	257;181;257	ENSP00000353739:N257K;ENSP00000444026:N181K;ENSP00000428099:N257K	ENSP00000353739:N257K	N	-	3	2	PCMTD1	52895767	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	3.249000	0.51437	-0.122000	0.11766	-0.250000	0.11733	AAT		0.388	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2	NM_052937		C	52733214	A	C	52733214	3	2	757	1	0	0	0	0	1	0	0	0	11588	98	4	5	306	5	PCMTD1	8	52733214	Missense_Mutation	SNP	A	TCGA-KO-8417-01A-11D-2310-10	27025083	52733214	93630808	44	44641											
C8orf47	203111	hgsc.bcm.edu	37	8	99102105	99102105	+	Missense_Mutation	SNP	A	A	G	rs11994440	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr8:99102105A>G	ENST00000318528.3	+	2	1219	c.860A>G	c.(859-861)cAt>cGt	p.H287R	C8orf47_ENST00000545282.1_Intron	NM_173549.2	NP_775820.2	Q6P6B1	ERIC5_HUMAN		287	Glu-rich.		H -> R (in dbSNP:rs11994440).							kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			GATCCATTCCATAAAACTCCT	0.443													A|||	124	0.0247604	0.0908	0.0058	5008	,	,		22739	0.0		0.0	False		,,,				2504	0.0															0								A	,ARG/HIS	390,4016	195.3+/-220.0	26,338,1839	101	93	96		,860	-3.2	0	8	dbSNP_120	96	2,8598	2.2+/-6.3	0,2,4298	yes	intron,missense	C8orf47	NM_001170806.1,NM_173549.2	,29	26,340,6137	GG,GA,AA		0.0233,8.8516,3.014	,benign	,287/375	99102105	392,12614	2203	4300	6503	SO:0001583	missense	203111																														ENST00000318528.3:c.860A>G	8.37:g.99102105A>G	ENSP00000315614:p.His287Arg		G3V1K4|Q8N1L8	Missense_Mutation	SNP	ENST00000318528.3	37	CCDS34929.1	50	0.022893772893772892	48	0.0975609756097561	2	0.0055248618784530384	0	0.0	0	0.0	A	4.333	0.061136	0.08339	0.088516	2.33E-4	ENSG00000177459	ENST00000318528	T	0.22134	1.97	5.13	-3.19	0.05171	.	1.083140	0.07108	N	0.841664	T	0.00468	0.0015	M	0.63428	1.95	0.09310	N	1	B	0.16396	0.017	B	0.12156	0.007	T	0.33497	-0.9866	10	0.21014	T	0.42	-19.7838	5.9982	0.19505	0.2438:0.321:0.4352:0.0	rs11994440;rs52793077;rs57265963;rs11994440	287	Q6P6B1	CH047_HUMAN	R	287	ENSP00000315614:H287R	ENSP00000315614:H287R	H	+	2	0	C8orf47	99171281	0.003000	0.15002	0.000000	0.03702	0.026000	0.11368	0.598000	0.24074	-0.430000	0.07318	-0.250000	0.11733	CAT		0.443	C8orf47-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380465.1			G	99102105	A	G	99102105	3	3	757	1	0	0	0	0	1	0	0	0	2434	217	8	3	866	3	C8orf47	8	99102105	Missense_Mutation	SNP	A	TCGA-KO-8417-01A-11D-2310-10	46368891	99102105	47261917	45	44642											
COL22A1	169044	hgsc.bcm.edu;ucsc.edu	37	8	139606435	139606435	+	Silent	SNP	G	G	A	rs115499018	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr8:139606435G>A	ENST00000303045.6	-	63	4886	c.4440C>T	c.(4438-4440)ctC>ctT	p.L1480L	COL22A1_ENST00000435777.1_Silent_p.L1460L|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1480	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)			GGAGGTAGGCGAGTCTGGCTG	0.572										HNSCC(7;0.00092)			G|||	54	0.0107827	0.0378	0.0043	5008	,	,		18009	0.0		0.001	False		,,,				2504	0.0															0								G		111,4295	76.8+/-115.0	2,107,2094	33	36	35		4440	-11.8	0.6	8	dbSNP_132	35	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	COL22A1	NM_152888.1		2,109,6392	AA,AG,GG		0.0233,2.5193,0.8688		1480/1627	139606435	113,12893	2203	4300	6503	SO:0001819	synonymous_variant	169044			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.4440C>T	8.37:g.139606435G>A			B7ZMH0|C9K0G4|Q8IVT9	Silent	SNP	ENST00000303045.6	37	CCDS6376.1																																																																																				0.572	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		A	139606435	G	A	139606435	2	1	757	1	0	0	0	0	0	0	0	1	3683	1045	37	1		1	COL22A1	8	139606435	Silent	SNP	G	TCGA-KO-8417-01A-11D-2310-10	40504330	139606435	6757587	46	44643											
DENND3	22898	ucsc.edu	37	8	142204326	142204326	+	Silent	SNP	C	C	G	rs1045248	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr8:142204326C>G	ENST00000262585.2	+	23	3869	c.3591C>G	c.(3589-3591)ggC>ggG	p.G1197G	DENND3_ENST00000523308.1_Silent_p.G247G|DENND3_ENST00000424248.1_Silent_p.G1145G|DENND3_ENST00000519811.1_Silent_p.G1277G	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	1197					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)			TTTGGAAAGGCGAATAAACGT	0.617													G|||	2563	0.511781	0.4713	0.4625	5008	,	,		19319	0.6627		0.4085	False		,,,				2504	0.5521															0								G		2180,2226	582.3+/-385.5	540,1100,563	56	50	52		3591	-5.1	0	8	dbSNP_86	52	3283,5315	636.1+/-399.1	642,1999,1658	no	coding-synonymous	DENND3	NM_014957.2		1182,3099,2221	GG,GC,CC		38.1833,49.478,42.0102		1197/1199	142204326	5463,7541	2203	4299	6502	SO:0001819	synonymous_variant	22898			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.3591C>G	8.37:g.142204326C>G			B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Silent	SNP	ENST00000262585.2	37	CCDS34947.1	1101	0.5041208791208791	236	0.4796747967479675	184	0.5082872928176796	386	0.6748251748251748	295	0.3891820580474934	G	0.178	-1.064887	0.01934	0.49478	0.381833	ENSG00000105339	ENST00000518668	.	.	.	5.29	-5.14	0.02875	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.41963	-0.9479	3	.	.	.	-22.9582	2.163	0.03829	0.147:0.3307:0.2613:0.261	rs1045248;rs3185128;rs3739225;rs1045248	.	.	.	G	1202	.	.	R	+	1	2	DENND3	142273508	0.000000	0.05858	0.013000	0.15412	0.005000	0.04900	-3.114000	0.00598	-1.350000	0.02199	-2.316000	0.00254	CGA		0.617	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014957		G	142204326	C	G	142204326	2	3	757	1	0	0	0	0	0	0	0	1	4434	755	27	4		4	DENND3	8	142204326	Silent	SNP	C	TCGA-KO-8417-01A-11D-2310-10	2597891	142204326	4159696	47	44644											
GPR172A	79581	bcgsc.ca	37	8	145583036	145583036	+	Missense_Mutation	SNP	A	A	G	rs141698844		TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr8:145583036A>G	ENST00000532887.1	+	2	666	c.83A>G	c.(82-84)aAt>aGt	p.N28S	SLC52A2_ENST00000329994.2_Missense_Mutation_p.N28S|SLC52A2_ENST00000526752.1_Missense_Mutation_p.N28S|SLC52A2_ENST00000540505.1_Intron|SLC52A2_ENST00000527078.1_Missense_Mutation_p.N28S|SLC52A2_ENST00000526891.1_Intron|SLC52A2_ENST00000402965.1_Missense_Mutation_p.N28S|FBXL6_ENST00000526524.1_5'Flank|SLC52A2_ENST00000530047.1_Missense_Mutation_p.N28S|FBXL6_ENST00000331890.5_5'Flank|FBXL6_ENST00000455319.2_5'Flank			Q9HAB3	S52A2_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	28					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)	GCTGCGGTCAATGGGATCTGG	0.662													A|||	1	0.000199681	0.0	0.0	5008	,	,		18507	0.0		0.001	False		,,,				2504	0.0															0								A	SER/ASN	2,4400	4.2+/-10.8	0,2,2199	84	77	79		83	1.7	0	8	dbSNP_134	79	2,8598	2.2+/-6.3	0,2,4298	yes	missense	GPR172A	NM_024531.3	46	0,4,6497	GG,GA,AA		0.0233,0.0454,0.0308	probably-damaging	28/446	145583036	4,12998	2201	4300	6501	SO:0001583	missense	79581			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.83A>G	8.37:g.145583036A>G	ENSP00000436768:p.Asn28Ser		A8K6B6|D3DWL8|G1UCY1|Q86UT1	Missense_Mutation	SNP	ENST00000532887.1	37	CCDS6423.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	A	19.02	3.744904	0.69418	4.54E-4	2.33E-4	ENSG00000185803	ENST00000524541;ENST00000530047;ENST00000527078;ENST00000526338;ENST00000402965;ENST00000534725;ENST00000532887;ENST00000329994;ENST00000526752	T;T;T;T;T;T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21;-1.21;-1.21;-1.21;-1.21;-1.21	4.33	1.72	0.24424	.	0.053970	0.64402	D	0.000001	D	0.85173	0.5636	M	0.84773	2.715	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	T	0.82133	-0.0608	10	0.52906	T	0.07	.	5.0614	0.14559	0.7124:0.1836:0.104:0.0	.	28	Q9HAB3	RFT3_HUMAN	S	28	ENSP00000434239:N28S;ENSP00000435820:N28S;ENSP00000434728:N28S;ENSP00000433583:N28S;ENSP00000385961:N28S;ENSP00000431965:N28S;ENSP00000436768:N28S;ENSP00000333638:N28S;ENSP00000433796:N28S	ENSP00000333638:N28S	N	+	2	0	GPR172A	145553844	0.993000	0.37304	0.047000	0.18901	0.654000	0.38779	3.228000	0.51270	0.531000	0.28639	0.379000	0.24179	AAT		0.662	SLC52A2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382405.1	NM_024531		G	145583036	A	G	145583036	3	3	757	1	0	0	0	0	1	0	0	0	6671	101	4	3	85	3	GPR172A	8	145583036	Missense_Mutation	SNP	A	TCGA-KO-8417-01A-11D-2310-10	3378710	145583036	780986	48	44645											
ZNF658	26149	broad.mit.edu;mdanderson.org;bcgsc.ca	37	9	40774999	40774999	+	Missense_Mutation	SNP	T	T	A			TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr9:40774999T>A	ENST00000602553.1	-	5	570	c.276A>T	c.(274-276)gaA>gaT	p.E92D	ZNF658_ENST00000441795.1_Missense_Mutation_p.E90D|ZNF658_ENST00000377626.3_Missense_Mutation_p.E92D			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	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)|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)		TTTCTTGTTTTTCCCGGATCC	0.308																																																0													11	14	13					9																	40774999		687	1633	2320	SO:0001583	missense	26149			AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"Zinc fingers, C2H2-type", "-"	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.276A>T	9.37:g.40774999T>A	ENSP00000473484:p.Glu92Asp		Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Missense_Mutation	SNP	ENST00000602553.1	37	CCDS35023.1	.	.	.	.	.	.	.	.	.	.	t	13.60	2.284284	0.40394	.	.	ENSG00000196409	ENST00000441795;ENST00000377626	T;T	0.08193	3.23;3.12	2.3	0.937	0.19494	.	.	.	.	.	T	0.07369	0.0186	L	0.45581	1.43	0.09310	N	0.99999	P;B	0.40302	0.712;0.092	B;B	0.40375	0.327;0.05	T	0.29305	-1.0016	9	0.14252	T	0.57	.	5.9381	0.19177	0.0:0.0:0.466:0.534	.	92;92	Q5TYW1-2;Q5TYW1	.;ZN658_HUMAN	D	90;92	ENSP00000408462:E90D;ENSP00000366853:E92D	ENSP00000366853:E92D	E	-	3	2	ZNF658	40764999	0.883000	0.30277	0.058000	0.19502	0.013000	0.08279	0.808000	0.27154	1.092000	0.41356	0.321000	0.21382	GAA		0.308	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467800.1	NM_033160		A	40774999	T	A	40774999	3	1	757	1	0	0	0	0	1	0	0	0	18074	1838	64	5	2907	5	ZNF658	9	40774999	Missense_Mutation	SNP	T	TCGA-KO-8417-01A-11D-2310-10		40774999	100438432	49	44646											
PPP6C	5537	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	9	127915854	127915854	+	Silent	SNP	G	G	A			TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr9:127915854G>A	ENST00000373547.4	-	6	726	c.627C>T	c.(625-627)ccC>ccT	p.P209P	PPP6C_ENST00000451402.1_Silent_p.P246P|PPP6C_ENST00000373546.3_Silent_p.P62P|PPP6C_ENST00000415905.1_Silent_p.P187P	NM_002721.4	NP_002712.1	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit	209					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						CTGCTCCTCGGGGACTGATAG	0.438																																																0													76	72	74					9																	127915854		2203	4300	6503	SO:0001819	synonymous_variant	5537			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.627C>T	9.37:g.127915854G>A			B2R5V6|B7Z2W9|B7Z5K9|Q5U0A2|Q9UIC9	Silent	SNP	ENST00000373547.4	37	CCDS6861.1																																																																																				0.438	PPP6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054060.1	NM_016294		A	127915854	G	A	127915854	2	1	757	1	0	0	0	0	0	0	0	1	12412	1219	43	2		2	PPP6C	9	127915854	Silent	SNP	G	TCGA-KO-8417-01A-11D-2310-10	87140855	127915854	13297577	50	44647											
ZBTB43	23099	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	9	129595572	129595572	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr9:129595572G>A	ENST00000373464.4	+	3	1048	c.784G>A	c.(784-786)Gcg>Acg	p.A262T	ZBTB43_ENST00000373457.1_Missense_Mutation_p.A262T|ZBTB43_ENST00000449886.1_Missense_Mutation_p.A262T	NM_014007.3	NP_054726.1	O43298	ZBT43_HUMAN	zinc finger and BTB domain containing 43	262					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(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						GGATGTGCACGCGACCTACGA	0.607																																																0													59	49	52					9																	129595572		2203	4300	6503	SO:0001583	missense	23099			AF049907	CCDS6867.1	9q33.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000169155	ENSG00000169155		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	17908	protein-coding gene	gene with protein product			"zinc finger protein 297B"	ZNF297B			Standard	NM_014007		Approved	KIAA0414, ZNF-X, FLJ22470, ZBTB22B	uc010mxf.3	O43298	OTTHUMG00000020693	ENST00000373464.4:c.784G>A	9.37:g.129595572G>A	ENSP00000362563:p.Ala262Thr		Q5JU96	Missense_Mutation	SNP	ENST00000373464.4	37	CCDS6867.1	.	.	.	.	.	.	.	.	.	.	G	9.187	1.025052	0.19433	.	.	ENSG00000169155	ENST00000449886;ENST00000373464;ENST00000373457	T;T;T	0.10288	2.89;2.89;2.89	5.49	4.6	0.57074	.	0.257564	0.33290	N	0.005072	T	0.05593	0.0147	N	0.19112	0.55	0.09310	N	1	B	0.27679	0.185	B	0.12837	0.008	T	0.39187	-0.9626	10	0.13470	T	0.59	.	7.3486	0.26678	0.1583:0.1397:0.7021:0.0	.	262	O43298	ZBT43_HUMAN	T	262	ENSP00000390344:A262T;ENSP00000362563:A262T;ENSP00000362556:A262T	ENSP00000362556:A262T	A	+	1	0	ZBTB43	128635393	0.011000	0.17503	0.781000	0.31783	0.724000	0.41520	1.177000	0.31969	1.463000	0.47967	-0.448000	0.05591	GCG		0.607	ZBTB43-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054124.1	NM_001135776		A	129595572	G	A	129595572	3	1	757	1	0	0	0	0	1	0	0	0	17549	1087	38	1	786	1	ZBTB43	9	129595572	Missense_Mutation	SNP	G	TCGA-KO-8417-01A-11D-2310-10	1679718	129595572	11617859	51	44648											
MYST4	23522	hgsc.bcm.edu	37	10	76790413	76790413	+	Missense_Mutation	SNP	A	A	G	rs143966521		TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr10:76790413A>G	ENST00000287239.4	+	18	6320	c.5831A>G	c.(5830-5832)tAt>tGt	p.Y1944C	KAT6B_ENST00000372725.1_Missense_Mutation_p.Y1652C|KAT6B_ENST00000372711.1_Missense_Mutation_p.Y1761C|KAT6B_ENST00000372714.1_Missense_Mutation_p.Y1652C|KAT6B_ENST00000372724.1_Missense_Mutation_p.Y1652C	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1944	Interaction with RUNX1 and RUNX2.				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)	p.Y1944C(1)									TCACAAATCTATGGGCGCTCC	0.552																																																1	Substitution - Missense(1)	lung(1)						A	CYS/TYR	0,4406		0,0,2203	86	86	86		5831	5.7	1	10	dbSNP_134	86	1,8599	1.2+/-3.3	0,1,4299	no	missense	KAT6B	NM_012330.2	194	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	probably-damaging	1944/2074	76790413	1,13005	2203	4300	6503	SO:0001583	missense	23522			AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	17582	protein-coding gene	gene with protein product	"MOZ-related factor"	605880	"MYST histone acetyltransferase (monocytic leukemia) 4"	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.5831A>G	10.37:g.76790413A>G	ENSP00000287239:p.Tyr1944Cys		O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	37	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	A	14.09	2.432460	0.43224	0.0	1.16E-4	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	D;D;D;D;D	0.87650	-2.13;-2.13;-2.28;-2.13;-2.14	5.69	5.69	0.88448	.	0.000000	0.45361	D	0.000363	D	0.89822	0.6826	L	0.29908	0.895	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.998	D	0.91276	0.5048	10	0.87932	D	0	-10.2811	15.9322	0.79672	1.0:0.0:0.0:0.0	.	1761;1652;1944	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	C	1652;1652;1944;1652;1761	ENSP00000361810:Y1652C;ENSP00000361809:Y1652C;ENSP00000287239:Y1944C;ENSP00000361799:Y1652C;ENSP00000361796:Y1761C	ENSP00000287239:Y1944C	Y	+	2	0	KAT6B	76460419	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.962000	0.93254	2.165000	0.68154	0.460000	0.39030	TAT		0.552	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		G	76790413	A	G	76790413	3	3	757	1	0	0	0	0	1	0	0	0	10107	449	16	3	5893	3	MYST4	10	76790413	Missense_Mutation	SNP	A	TCGA-KO-8417-01A-11D-2310-10		76790413	58744334	52	44649											
TDRD1	56165	hgsc.bcm.edu	37	10	115987678	115987678	+	Missense_Mutation	SNP	A	A	G	rs34112549	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr10:115987678A>G	ENST00000369280.1	+	23	3645	c.3185A>G	c.(3184-3186)tAt>tGt	p.Y1062C	TDRD1_ENST00000369282.1_Missense_Mutation_p.Y1062C|TDRD1_ENST00000369281.2_Missense_Mutation_p.Y1024C|TDRD1_ENST00000251864.2_Missense_Mutation_p.Y1138C|TDRD1_ENST00000422662.1_Missense_Mutation_p.Y666C			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	1061					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)		GAAAAGATGTATAGGATGAAT	0.318													A|||	56	0.0111821	0.0408	0.0014	5008	,	,		18848	0.0		0.001	False		,,,				2504	0.0															0								A	CYS/TYR	164,4240	109.1+/-147.4	5,154,2043	114	108	110		3413	-3.2	0	10	dbSNP_126	110	4,8596	3.7+/-12.6	0,4,4296	yes	missense	TDRD1	NM_198795.1	194	5,158,6339	GG,GA,AA		0.0465,3.7239,1.2919	benign	1138/1190	115987678	168,12836	2202	4300	6502	SO:0001583	missense	56165			AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"Tudor domain containing"	11712	protein-coding gene	gene with protein product	"cancer/testis antigen 41.1"	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.3185A>G	10.37:g.115987678A>G	ENSP00000358286:p.Tyr1062Cys		A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Missense_Mutation	SNP	ENST00000369280.1	37		24	0.01098901098901099	23	0.046747967479674794	0	0.0	0	0.0	1	0.0013192612137203166	A	6.628	0.484402	0.12641	0.037239	4.65E-4	ENSG00000095627	ENST00000369282;ENST00000251864;ENST00000369281;ENST00000422662;ENST00000369280	T;T;T;T;T	0.17370	3.13;3.13;2.28;2.55;3.13	5.3	-3.16	0.05217	.	1.884470	0.02263	N	0.067712	T	0.01353	0.0044	N	0.04508	-0.205	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	0.04013	0.001;0.0;0.0;0.001;0.001	T	0.30563	-0.9974	10	0.36615	T	0.2	6.9222	13.0699	0.59055	0.3937:0.0:0.6063:0.0	rs34112549	666;1138;1024;1138;1024	Q9BXT4-4;Q9BXT4;B7WPM2;Q9BXT4-3;Q9BXT4-2	.;TDRD1_HUMAN;.;.;.	C	1062;1138;1024;666;1062	ENSP00000358288:Y1062C;ENSP00000251864:Y1138C;ENSP00000358287:Y1024C;ENSP00000402794:Y666C;ENSP00000358286:Y1062C	ENSP00000251864:Y1138C	Y	+	2	0	TDRD1	115977668	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	0.001000	0.13038	-0.599000	0.05798	-0.973000	0.02599	TAT		0.318	TDRD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050457.2			G	115987678	A	G	115987678	3	3	757	1	0	0	0	0	1	0	0	0	15735	449	16	3	3503	3	TDRD1	10	115987678	Missense_Mutation	SNP	A	TCGA-KO-8417-01A-11D-2310-10	39197265	115987678	19547069	53	44650											
OR51I2	390064	hgsc.bcm.edu	37	11	5475431	5475431	+	Missense_Mutation	SNP	T	T	A	rs199654892|rs35301588	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr11:5475431T>A	ENST00000341449.2	+	1	794	c.713T>A	c.(712-714)cTc>cAc	p.L238H	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	238					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)		CTCAAAGCTCTCAACACATGT	0.498																																																0													282	237	252					11																	5475431		2201	4297	6498	SO:0001583	missense	390064			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.713T>A	11.37:g.5475431T>A	ENSP00000341987:p.Leu238His		Q6IF81	Missense_Mutation	SNP	ENST00000341449.2	37	CCDS31383.1	.	.	.	.	.	.	.	.	.	.	T	14.64	2.594810	0.46318	.	.	ENSG00000187918	ENST00000341449	T	0.00207	8.55	5.58	5.58	0.84498	GPCR, rhodopsin-like superfamily (1);	0.110868	0.40908	D	0.000997	T	0.00875	0.0029	H	0.95574	3.69	0.31649	N	0.647016	D	0.76494	0.999	D	0.66847	0.947	T	0.03325	-1.1048	10	0.87932	D	0	.	14.7227	0.69320	0.0:0.0:0.0:1.0	.	238	Q9H344	O51I2_HUMAN	H	238	ENSP00000341987:L238H	ENSP00000341987:L238H	L	+	2	0	OR51I2	5432007	0.880000	0.30214	1.000000	0.80357	0.415000	0.31203	5.792000	0.69052	2.343000	0.79666	0.533000	0.62120	CTC		0.498	OR51I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143385.1	NM_001004754		A	5475431	T	A	5475431	3	1	757	1	0	0	0	0	1	0	0	0	11103	1551	54	5	715	5	OR51I2	11	5475431	Missense_Mutation	SNP	T	TCGA-KO-8417-01A-11D-2310-10		5475431	129531085	54	44651											
DNHD1	144132	bcgsc.ca	37	11	6524072	6524072	+	Missense_Mutation	SNP	A	A	C	rs11605196	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr11:6524072A>C	ENST00000527990.2	+	2	836	c.836A>C	c.(835-837)cAg>cCg	p.Q279P	DNHD1_ENST00000354685.3_Missense_Mutation_p.Q279P|DNHD1_ENST00000254579.6_Missense_Mutation_p.Q279P			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	279			Q -> P (in dbSNP:rs11605196).		microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CTGGATAGCCAGGTGATGACT	0.502													A|||	499	0.0996406	0.0408	0.147	5008	,	,		20522	0.0169		0.1789	False		,,,				2504	0.1493															0								A	PRO/GLN,PRO/GLN	277,4125	155.2+/-188.4	10,257,1934	122	102	109		836,836	4.5	0	11	dbSNP_120	109	1636,6956	302.2+/-305.8	165,1306,2825	yes	missense,missense	DNHD1	NM_144666.2,NM_173589.3	76,76	175,1563,4759	CC,CA,AA		19.041,6.2926,14.7222	benign,benign	279/4754,279/598	6524072	1913,11081	2201	4296	6497	SO:0001583	missense	144132			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 47", "dynein heavy chain domain 1-like", "coiled-coil domain containing 35"	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.836A>C	11.37:g.6524072A>C	ENSP00000436180:p.Gln279Pro		Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	CCDS44532.1	224	0.10256410256410256	26	0.052845528455284556	46	0.1270718232044199	11	0.019230769230769232	141	0.18601583113456466	A	11.40	1.627054	0.28978	0.062926	0.19041	ENSG00000179532	ENST00000254579;ENST00000354685;ENST00000527990	T;T;T	0.27890	1.64;2.65;1.64	5.64	4.52	0.55395	.	0.540708	0.18166	N	0.149607	T	0.00039	0.0001	L	0.40543	1.245	0.80722	P	0.0	P;B	0.44578	0.838;0.004	B;B	0.41813	0.367;0.004	T	0.18178	-1.0345	9	0.28530	T	0.3	.	8.2343	0.31616	0.9095:0.0:0.0905:0.0	rs11605196;rs52824639;rs11605196	279;279	Q96M86;Q96M86-4	DNHD1_HUMAN;.	P	279	ENSP00000254579:Q279P;ENSP00000346716:Q279P;ENSP00000436180:Q279P	ENSP00000254579:Q279P	Q	+	2	0	DNHD1	6480648	0.000000	0.05858	0.019000	0.16419	0.032000	0.12392	0.115000	0.15540	0.971000	0.38288	0.460000	0.39030	CAG		0.502	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		C	6524072	A	C	6524072	3	2	757	1	0	0	0	0	1	0	0	0	4670	188	7	5	842	5	DNHD1	11	6524072	Missense_Mutation	SNP	A	TCGA-KO-8417-01A-11D-2310-10	1048641	6524072	128482444	55	44652											
PHF21A	51317	ucsc.edu	37	11	46001380	46001380	+	Silent	SNP	T	T	C	rs151038480		TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr11:46001380T>C	ENST00000418153.2	-	6	490	c.291A>G	c.(289-291)caA>caG	p.Q97Q	PHF21A_ENST00000257821.4_Silent_p.Q97Q|PHF21A_ENST00000323180.6_Silent_p.Q97Q			Q96BD5	PF21A_HUMAN	PHD finger protein 21A	97	Gln-rich.				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						actgctgctgttgttgtagtt	0.498																																																0								T	,	3,4401	6.2+/-15.9	0,3,2199	343	268	294		291,291	-6.8	0.1	11	dbSNP_134	294	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous	PHF21A	NM_001101802.1,NM_016621.3	,	0,3,6498	CC,CT,TT		0.0,0.0681,0.0231	,	97/681,97/635	46001380	3,12999	2202	4299	6501	SO:0001819	synonymous_variant	51317			AL359593	CCDS31474.1, CCDS44578.1	11p11.2	2013-01-28			ENSG00000135365	ENSG00000135365		"Zinc fingers, PHD-type"	24156	protein-coding gene	gene with protein product		608325				11214970, 12032298	Standard	NM_001101802		Approved	BHC80, KIAA1696, BM-006	uc001ncc.4	Q96BD5	OTTHUMG00000167038	ENST00000418153.2:c.291A>G	11.37:g.46001380T>C			D3DQP5|Q6AWA2|Q9C0G7|Q9H8V9|Q9HAK6|Q9NZE9	Silent	SNP	ENST00000418153.2	37	CCDS44578.1																																																																																				0.498	PHF21A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392583.1	NM_016621		C	46001380	T	C	46001380	2	2	757	1	0	0	0	0	0	0	0	1	11835	1722	60	3		3	PHF21A	11	46001380	Silent	SNP	T	TCGA-KO-8417-01A-11D-2310-10	39477308	46001380	89005136	56	44653											
CARD17	440068	mdanderson.org;bcgsc.ca	37	11	104971257	104971257	+	Missense_Mutation	SNP	G	G	A	rs12806837	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr11:104971257G>A	ENST00000375707.1	-	2	273	c.257C>T	c.(256-258)aCg>aTg	p.T86M	CASP1_ENST00000598974.1_Intron|CASP1_ENST00000593315.1_Intron|CASP1_ENST00000594519.1_Intron|CARD16_ENST00000525374.1_Intron|CASP1_ENST00000415981.2_Intron	NM_001007232.1	NP_001007233.1	Q5XLA6	CAR17_HUMAN	caspase recruitment domain family, member 17	86	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	6						GAGTCCCAGCGTCCCTGCCAG	0.488													.|||	512	0.102236	0.143	0.2233	5008	,	,		20238	0.006		0.0815	False		,,,				2504	0.0818															0								G	MET/THR	601,3803		31,539,1632	122	106	111		257	-2.5	0	11	dbSNP_121	111	694,7904		29,636,3634	no	missense	CARD17	NM_001007232.1	81	60,1175,5266	AA,AG,GG		8.0716,13.6467,9.96		86/111	104971257	1295,11707	2202	4299	6501	SO:0001583	missense	440068				CCDS31662.1	11q22.3	2009-01-13				ENSG00000255221			33827	protein-coding gene	gene with protein product	"Inhibitory CARD"	609490				15383541	Standard	NM_001007232		Approved	INCA	uc001pir.1	Q5XLA6		ENST00000375707.1:c.257C>T	11.37:g.104971257G>A	ENSP00000364859:p.Thr86Met			Missense_Mutation	SNP	ENST00000375707.1	37	CCDS31662.1	216	0.0989010989010989	81	0.16463414634146342	75	0.20718232044198895	2	0.0034965034965034965	58	0.07651715039577836	.	6.103	0.387223	0.11581	0.136467	0.080716	ENSG00000255221	ENST00000375707	T	0.20881	2.04	2.69	-2.47	0.06442	DEATH-like (2);Caspase Recruitment (3);	.	.	.	.	T	0.00012	0.0000	M	0.70595	2.14	0.80722	P	0.0	P	0.38617	0.64	B	0.29598	0.104	T	0.12167	-1.0558	8	0.40728	T	0.16	.	2.9218	0.05771	0.4783:0.0:0.2414:0.2803	rs12806837	86	Q5XLA6	CAR17_HUMAN	M	86	ENSP00000364859:T86M	ENSP00000364859:T86M	T	-	2	0	CARD17	104476467	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.712000	0.01885	-0.752000	0.04728	0.511000	0.50034	ACG		0.488	CARD17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388181.1	NM_001007232		A	104971257	G	A	104971257	3	1	757	1	0	0	0	0	1	0	0	0	2650	1145	40	1	83	1	CARD17	11	104971257	Missense_Mutation	SNP	G	TCGA-KO-8417-01A-11D-2310-10	58969877	104971257	30035259	57	44654											
PRB1	5542	mdanderson.org	37	12	11508460	11508460	+	Silent	SNP	A	A	G	rs200021729		TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr12:11508460A>G	ENST00000500254.2	-	1	65	c.28T>C	c.(28-30)Ttg>Ctg	p.L10L	PRB1_ENST00000546254.1_Intron|PRB1_ENST00000545626.1_Silent_p.L10L	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	0						extracellular region (GO:0005576)				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			AGGGCCAGCAAGGCCACTGAC	0.498																																																0													83	80	81					12																	11508460		2177	4276	6453	SO:0001819	synonymous_variant	5542				CCDS8642.1, CCDS55805.1	12p13.2	2012-10-02							9337	protein-coding gene	gene with protein product		180989				8317492	Standard	NM_199353		Approved	PM, PMF, PMS, PRB1M, PRB1L	uc001qzu.1	P04280		ENST00000500254.2:c.28T>C	12.37:g.11508460A>G			Q08805|Q15186|Q15187|Q15214|Q15215|Q16038	Silent	SNP	ENST00000500254.2	37	CCDS8642.1																																																																																				0.498	PRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402312.1	NM_005039		G	11508460	A	G	11508460	2	3	757	1	0	0	0	0	0	0	0	1	12447	69	3	3		3	PRB1	12	11508460	Silent	SNP	A	TCGA-KO-8417-01A-11D-2310-10		11508460	122343435	58	44655											
PRB2	653247	mdanderson.org	37	12	11546625	11546625	+	Silent	SNP	A	A	G	rs200564286		TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr12:11546625A>G	ENST00000389362.4	-	3	422	c.387T>C	c.(385-387)ccT>ccC	p.P129P	PRB1_ENST00000546254.1_Intron|PRB2_ENST00000545829.1_5'Flank	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	129	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GAGGACCTTGAGGCTGGTTGC	0.602																																																0													309	287	294					12																	11546625		2203	4300	6503	SO:0001819	synonymous_variant	653247			K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.387T>C	12.37:g.11546625A>G			O00599|P02811|P04281	Silent	SNP	ENST00000389362.4	37	CCDS41757.2																																																																																				0.602	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		G	11546625	A	G	11546625	2	3	757	1	0	0	0	0	0	0	0	1	12448	291	11	3		3	PRB2	12	11546625	Silent	SNP	A	TCGA-KO-8417-01A-11D-2310-10	38165	11546625	122305270	59	44656											
IRS2	8660	ucsc.edu	37	13	110435914	110435914	+	Silent	SNP	G	G	A	rs12853546	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr13:110435914G>A	ENST00000375856.3	-	1	3001	c.2487C>T	c.(2485-2487)ccC>ccT	p.P829P		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	829					brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to glucose stimulus (GO:0071333)|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 metabolic process (GO:0006006)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid homeostasis (GO:0055088)|mammary gland development (GO:0030879)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of kinase activity (GO:0033673)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|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 metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mesenchymal cell proliferation (GO:0002053)|regulation of lipid metabolic process (GO:0019216)|response to glucose (GO:0009749)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			TGCGCCCCACGGGGGAGCTCA	0.731													.|||	1127	0.22504	0.2027	0.1542	5008	,	,		8938	0.2173		0.2565	False		,,,				2504	0.2812				Melanoma(100;613 2409 40847)											0								G		757,3251		86,585,1333	4	6	5		2487	-10.3	0.3	13	dbSNP_121	5	1742,6278		224,1294,2492	no	coding-synonymous	IRS2	NM_003749.2		310,1879,3825	AA,AG,GG		21.7207,18.8872,20.7765		829/1339	110435914	2499,9529	2004	4010	6014	SO:0001819	synonymous_variant	8660			AB000732	CCDS9510.1	13q34	2013-01-10			ENSG00000185950	ENSG00000185950		"Pleckstrin homology (PH) domain containing"	6126	protein-coding gene	gene with protein product		600797				9312143	Standard	NM_003749		Approved		uc001vqv.3	Q9Y4H2	OTTHUMG00000017338	ENST00000375856.3:c.2487C>T	13.37:g.110435914G>A			Q96RR2|Q9BZG0|Q9Y6I5	Silent	SNP	ENST00000375856.3	37	CCDS9510.1																																																																																				0.731	IRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045755.1	NM_003749		A	110435914	G	A	110435914	2	1	757	1	0	0	0	0	0	0	0	1	7843	1103	39	1		1	IRS2	13	110435914	Silent	SNP	G	TCGA-KO-8417-01A-11D-2310-10		110435914	4733964	60	44657											
DAAM1	23002	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	14	59793702	59793702	+	Missense_Mutation	SNP	G	G	T			TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr14:59793702G>T	ENST00000395125.1	+	11	1388	c.1365G>T	c.(1363-1365)atG>atT	p.M455I	DAAM1_ENST00000351081.1_Missense_Mutation_p.M455I|DAAM1_ENST00000360909.3_Missense_Mutation_p.M455I	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	455					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)		CGGAAAAAATGAGAAAAGGTA	0.333																																																0													160	175	170					14																	59793702		2203	4300	6503	SO:0001583	missense	23002			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.1365G>T	14.37:g.59793702G>T	ENSP00000378557:p.Met455Ile		Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	ENST00000395125.1	37	CCDS9737.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.831199	0.71258	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000358498;ENST00000395125	T;T;T	0.39997	1.05;1.05;1.05	6.01	6.01	0.97437	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.42787	0.1218	M	0.68952	2.095	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.24119	-1.0169	10	0.46703	T	0.11	.	12.7696	0.57412	0.074:0.0:0.926:0.0	.	455;455	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	I	455	ENSP00000354162:M455I;ENSP00000247170:M455I;ENSP00000378557:M455I	ENSP00000247170:M455I	M	+	3	0	DAAM1	58863455	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.475000	0.73582	2.861000	0.98227	0.650000	0.86243	ATG		0.333	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992		T	59793702	G	T	59793702	3	4	757	1	0	0	0	0	1	0	0	0	4217	1290	45	4	1407	4	DAAM1	14	59793702	Missense_Mutation	SNP	G	TCGA-KO-8417-01A-11D-2310-10		59793702	47555838	61	44658											
ERH	2079	bcgsc.ca	37	14	69861593	69861593	+	Missense_Mutation	SNP	G	G	T			TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr14:69861593G>T	ENST00000557016.1	-	2	433	c.40C>A	c.(40-42)Cca>Aca	p.P14T	ERH_ENST00000216520.6_Intron|ERH_ENST00000555373.1_Missense_Mutation_p.P14T	NM_004450.2	NP_004441.1	P84090	ERH_HUMAN	enhancer of rudimentary homolog (Drosophila)	14					cell cycle (GO:0007049)|nucleobase-containing compound metabolic process (GO:0006139)|osteoblast differentiation (GO:0001649)|pyrimidine nucleoside metabolic process (GO:0006213)	membrane (GO:0016020)|midbody (GO:0030496)	poly(A) RNA binding (GO:0044822)								all cancers(60;0.00365)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0507)		CTGCCTTCTGGCCTCTTGGTA	0.373																																																0													102	91	95					14																	69861593		2203	4300	6503	SO:0001583	missense	2079			BC014301	CCDS9794.1	14q24.1	2011-05-18	2001-11-28		ENSG00000100632	ENSG00000100632			3447	protein-coding gene	gene with protein product		601191	"enhancer of rudimentary (Drosophila) homolog"			8786099, 9074495	Standard	NM_004450		Approved	DROER	uc001xlc.2	P84090		ENST00000557016.1:c.40C>A	14.37:g.69861593G>T	ENSP00000451080:p.Pro14Thr		B2R5H2|P70659|Q14259	Missense_Mutation	SNP	ENST00000557016.1	37	CCDS9794.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.466046	0.63625	.	.	ENSG00000100632	ENST00000557016;ENST00000555373	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.74650	0.3744	M	0.75615	2.305	0.80722	D	1	B	0.27997	0.197	B	0.42319	0.383	T	0.68674	-0.5346	9	0.13108	T	0.6	.	19.6765	0.95936	0.0:0.0:1.0:0.0	.	14	P84090	ERH_HUMAN	T	14	.	ENSP00000216520:P14T	P	-	1	0	ERH	68931346	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	9.768000	0.98965	2.644000	0.89710	0.655000	0.94253	CCA		0.373	ERH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412990.1	NM_004450		T	69861593	G	T	69861593	3	4	757	1	0	0	0	0	1	0	0	0	5228	1203	42	4	286	4	ERH	14	69861593	Missense_Mutation	SNP	G	TCGA-KO-8417-01A-11D-2310-10	10067891	69861593	37487947	62	44659											
DCAF4	26094	mdanderson.org	37	14	73422350	73422350	+	Silent	SNP	T	T	G	rs2806034	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr14:73422350T>G	ENST00000358377.2	+	12	1345	c.1125T>G	c.(1123-1125)tcT>tcG	p.S375S	DCAF4_ENST00000509153.1_Silent_p.S315S|DCAF4_ENST00000353777.3_Silent_p.S205S|DCAF4_ENST00000553457.1_Silent_p.S275S|DCAF4_ENST00000394234.2_Silent_p.S275S|DCAF4_ENST00000555042.1_Silent_p.S369S	NM_001163509.1|NM_015604.3	NP_001156981.1|NP_056419.2	Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4	375					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						CAGTGACCTCTGTGCGGATCC	0.547													T|||	1046	0.208866	0.1921	0.1527	5008	,	,		19731	0.1518		0.3131	False		,,,				2504	0.2229															0								T	,,,,	970,3436	364.9+/-317.2	105,760,1338	215	199	205		1107,1062,1125,825,945	0.5	0.7	14	dbSNP_100	205	2601,5999	420.9+/-353.5	408,1785,2107	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DCAF4	NM_001163508.1,NM_001163509.1,NM_015604.3,NM_181340.2,NM_181341.2	,,,,	513,2545,3445	GG,GT,TT		30.2442,22.0154,27.4566	,,,,	369/490,354/475,375/496,275/396,315/436	73422350	3571,9435	2203	4300	6503	SO:0001819	synonymous_variant	26094			BC018979	CCDS9809.1, CCDS9810.1, CCDS41968.1, CCDS41968.2, CCDS55926.1	14q24.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000119599		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	20229	protein-coding gene	gene with protein product			"WD repeat domain 21", "WD repeat domain 21A"	WDR21, WDR21A			Standard	NM_015604		Approved	DKFZp434K114	uc010ttr.2	Q8WV16		ENST00000358377.2:c.1125T>G	14.37:g.73422350T>G			B4DUT6|G3V522|Q86U31|Q8IV10|Q96K22|Q9Y4P5	Silent	SNP	ENST00000358377.2	37	CCDS9809.1																																																																																				0.547	DCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361058.1	NM_015604		G	73422350	T	G	73422350	2	3	757	1	0	0	0	0	0	0	0	1	4272	1567	55	5		5	DCAF4	14	73422350	Silent	SNP	T	TCGA-KO-8417-01A-11D-2310-10	3560757	73422350	33927190	63	44660											
YLPM1	56252	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	14	75265325	75265325	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr14:75265325C>T	ENST00000325680.7	+	5	3449	c.3325C>T	c.(3325-3327)Cga>Tga	p.R1109*	YLPM1_ENST00000238571.3_Nonsense_Mutation_p.R914*|YLPM1_ENST00000552421.1_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	914	Arg-rich.				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)		AGCTGGCAGCCGAGAAAGGGG	0.627																																																0													45	54	51					14																	75265325		1933	4131	6064	SO:0001587	stop_gained	56252			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.3325C>T	14.37:g.75265325C>T	ENSP00000324463:p.Arg1109*		P49752|Q96I64|Q9P1V7	Nonsense_Mutation	SNP	ENST00000325680.7	37	CCDS45135.1	.	.	.	.	.	.	.	.	.	.	C	33	5.253132	0.95336	.	.	ENSG00000119596	ENST00000325680;ENST00000238571;ENST00000423680	.	.	.	5.78	3.91	0.45181	.	0.110829	0.40302	N	0.001127	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.3673	10.8655	0.46853	0.3692:0.5117:0.1192:0.0	.	.	.	.	X	1109;914;822	.	ENSP00000238571:R914X	R	+	1	2	YLPM1	74335078	0.996000	0.38824	0.999000	0.59377	0.972000	0.66771	0.320000	0.19540	0.739000	0.32628	0.643000	0.83706	CGA		0.627	YLPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404451.1	NM_019589		T	75265325	C	T	75265325	4	4	757	1	0	0	0	0	0	1	0	0	17491	644	23	1	3343	1	YLPM1	14	75265325	Nonsense_Mutation	SNP	C	TCGA-KO-8417-01A-11D-2310-10	1842975	75265325	32084215	64	44661											
DISP2	85455	mdanderson.org	37	15	40660192	40660192	+	Silent	SNP	C	C	T	rs8040755	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr15:40660192C>T	ENST00000267889.3	+	8	1966	c.1879C>T	c.(1879-1881)Ctg>Ttg	p.L627L	RP11-64K12.4_ENST00000558421.1_RNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	627	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CACGGCTGTGCTGGTGCACCT	0.746													C|||	218	0.0435304	0.0038	0.1066	5008	,	,		10666	0.0179		0.0984	False		,,,				2504	0.0225															0								C		81,4189		0,81,2054	5	5	5		1879	5.6	1	15	dbSNP_116	5	887,7489		41,805,3342	no	coding-synonymous	DISP2	NM_033510.1		41,886,5396	TT,TC,CC		10.5898,1.897,7.6546		627/1402	40660192	968,11678	2135	4188	6323	SO:0001819	synonymous_variant	85455			AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.1879C>T	15.37:g.40660192C>T			Q6AHW3|Q9C0C1	Silent	SNP	ENST00000267889.3	37	CCDS10056.1																																																																																				0.746	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252249.1	NM_033510		T	40660192	C	T	40660192	2	4	757	1	0	0	0	0	0	0	0	1	4542	796	28	2		2	DISP2	15	40660192	Silent	SNP	C	TCGA-KO-8417-01A-11D-2310-10		40660192	61871200	65	44662											
LIPC	3990	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	58837951	58837951	+	Silent	SNP	C	C	T	rs149322349		TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr15:58837951C>T	ENST00000356113.6	+	7	1200	c.585C>T	c.(583-585)gcC>gcT	p.A195A	LIPC_ENST00000433326.2_Silent_p.A134A|LIPC_ENST00000414170.3_Silent_p.A195A|LIPC_ENST00000299022.5_Silent_p.A195A			P11150	LIPC_HUMAN	lipase, hepatic	195					cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|fatty acid biosynthetic process (GO:0006633)|high-density lipoprotein particle remodeling (GO:0034375)|intermediate-density lipoprotein particle remodeling (GO:0034373)|low-density lipoprotein particle remodeling (GO:0034374)|phosphatidylcholine catabolic process (GO:0034638)|reverse cholesterol transport (GO:0043691)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|low-density lipoprotein particle binding (GO:0030169)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)	p.A195A(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		GGCTGGATGCCGCGGGACCTT	0.493																																																1	Substitution - coding silent(1)	endometrium(1)						C		0,4384		0,0,2192	62	59	60		585	-10.9	0	15	dbSNP_134	60	1,8583	1.2+/-3.3	0,1,4291	no	coding-synonymous	LIPC	NM_000236.2		0,1,6483	TT,TC,CC		0.0116,0.0,0.0077		195/500	58837951	1,12967	2192	4292	6484	SO:0001819	synonymous_variant	3990				CCDS10166.1	15q21-q23	2012-10-02			ENSG00000166035	ENSG00000166035	3.1.1.3		6619	protein-coding gene	gene with protein product		151670					Standard	NM_000236		Approved	HL, HTGL	uc002afa.2	P11150	OTTHUMG00000132632	ENST00000356113.6:c.585C>T	15.37:g.58837951C>T			A2RUB4|A8K9B6|O43571|P78529|Q99465	Silent	SNP	ENST00000356113.6	37	CCDS10166.1																																																																																				0.493	LIPC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416209.1			T	58837951	C	T	58837951	2	4	757	1	0	0	0	0	0	0	0	1	8822	639	23	1		1	LIPC	15	58837951	Silent	SNP	C	TCGA-KO-8417-01A-11D-2310-10	18177759	58837951	43693441	66	44663											
CYP1A2	1544	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	15	75042327	75042327	+	Missense_Mutation	SNP	C	C	T	rs138652540		TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr15:75042327C>T	ENST00000343932.4	+	2	311	c.248C>T	c.(247-249)aCg>aTg	p.T83M		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	83			T -> M (in allele CYP1A2*9). {ECO:0000269|PubMed:14563787}.		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)"	ATTGGCTCCACGCCCGTGCTG	0.667													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18734	0.0		0.0	False		,,,				2504	0.0															0								C	MET/THR	1,4393	2.1+/-5.4	0,1,2196	51	46	48		248	3.1	0.3	15	dbSNP_134	48	0,8592		0,0,4296	yes	missense	CYP1A2	NM_000761.3	81	0,1,6492	TT,TC,CC		0.0,0.0228,0.0077	probably-damaging	83/517	75042327	1,12985	2197	4296	6493	SO:0001583	missense	1544			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.248C>T	15.37:g.75042327C>T	ENSP00000342007:p.Thr83Met		Q16754|Q6NWU5|Q9BXX7|Q9UK49	Missense_Mutation	SNP	ENST00000343932.4	37	CCDS32293.1	.	.	.	.	.	.	.	.	.	.	c	14.29	2.489965	0.44249	2.28E-4	0.0	ENSG00000140505	ENST00000343932	T	0.70045	-0.45	4.98	3.11	0.35812	.	0.153946	0.52532	D	0.000076	T	0.77075	0.4077	M	0.81341	2.54	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65689	-0.6107	10	0.52906	T	0.07	.	3.3504	0.07150	0.1313:0.5675:0.1437:0.1575	.	83	P05177-2	.	M	83	ENSP00000342007:T83M	ENSP00000342007:T83M	T	+	2	0	CYP1A2	72829380	0.028000	0.19301	0.338000	0.25549	0.878000	0.50629	1.520000	0.35899	0.704000	0.31869	-0.215000	0.12644	ACG		0.667	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421263.2	NM_000761		T	75042327	C	T	75042327	3	4	757	1	0	0	0	0	1	0	0	0	4152	536	19	1	250	1	CYP1A2	15	75042327	Missense_Mutation	SNP	C	TCGA-KO-8417-01A-11D-2310-10	16204376	75042327	27489065	67	44664											
RBBP6	5930	mdanderson.org	37	16	24583715	24583715	+	Silent	SNP	A	A	G	rs148143334	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr16:24583715A>G	ENST00000319715.4	+	18	5760	c.5328A>G	c.(5326-5328)aaA>aaG	p.K1776K	RBBP6_ENST00000348022.2_Silent_p.K1742K|RBBP6_ENST00000381039.3_Silent_p.K936K	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1776					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)		acaaagataaagagaaggaga	0.318																																																0													25	24	24					16																	24583715		1913	3652	5565	SO:0001819	synonymous_variant	5930				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.5328A>G	16.37:g.24583715A>G			Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Silent	SNP	ENST00000319715.4	37	CCDS10621.1																																																																																				0.318	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		G	24583715	A	G	24583715	2	3	757	1	0	0	0	0	0	0	0	1	13109	69	3	3		3	RBBP6	16	24583715	Silent	SNP	A	TCGA-KO-8417-01A-11D-2310-10		24583715	65771038	68	44665											
SPAG7	9552	mdanderson.org	37	17	4864114	4864114	+	Silent	SNP	T	T	C	rs61749470	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr17:4864114T>C	ENST00000206020.3	-	2	187	c.120A>G	c.(118-120)caA>caG	p.Q40Q	SPAG7_ENST00000575142.1_Silent_p.Q29Q|SPAG7_ENST00000573366.1_5'UTR	NM_004890.2	NP_004881.2	O75391	SPAG7_HUMAN	sperm associated antigen 7	40						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1)	10						GTTGTTTCTCTTGCTCTTGTA	0.478													T|||	103	0.0205671	0.028	0.013	5008	,	,		19443	0.0099		0.0388	False		,,,				2504	0.0082															0								T		94,3648		0,94,1777	161	155	157		120	1.7	1	17	dbSNP_129	157	279,7943		6,267,3838	no	coding-synonymous	SPAG7	NM_004890.2		6,361,5615	CC,CT,TT		3.3933,2.512,3.1177		40/228	4864114	373,11591	1871	4111	5982	SO:0001819	synonymous_variant	9552			AF047437	CCDS42240.1	17p13.2	2008-07-18				ENSG00000091640			11216	protein-coding gene	gene with protein product		610056				9653160	Standard	NM_004890		Approved	FSA-1, ACRP, MGC20134	uc002gae.3	O75391		ENST00000206020.3:c.120A>G	17.37:g.4864114T>C			Q96EU5	Silent	SNP	ENST00000206020.3	37	CCDS42240.1																																																																																				0.478	SPAG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438747.1	NM_004890		C	4864114	T	C	4864114	2	2	757	1	0	0	0	0	0	0	0	1	14989	1606	56	3		3	SPAG7	17	4864114	Silent	SNP	T	TCGA-KO-8417-01A-11D-2310-10		4864114	76331096	69	44666											
XAF1	54739	bcgsc.ca	37	17	6663894	6663894	+	Missense_Mutation	SNP	G	G	A	rs386794960|rs2271232	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr17:6663894G>A	ENST00000361842.3	+	4	634	c.395G>A	c.(394-396)cGc>cAc	p.R132H	XAF1_ENST00000441631.1_Missense_Mutation_p.R132H|XAF1_ENST00000346752.4_Missense_Mutation_p.R113H|XAF1_ENST00000438512.1_Missense_Mutation_p.R132H	NM_017523.3	NP_059993.2	Q6GPH4	XAF1_HUMAN	XIAP associated factor 1	132			R -> H (in dbSNP:rs2271232).	R -> Q (in Ref. 3; BAF85537). {ECO:0000305}.	apoptotic process (GO:0006915)|cytokine-mediated signaling pathway (GO:0019221)|negative regulation of protein complex assembly (GO:0031333)|response to interferon-beta (GO:0035456)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	6						GATGTCTGTCGCAGTGAACAG	0.592													G|||	670	0.133786	0.2481	0.072	5008	,	,		17101	0.1855		0.0398	False		,,,				2504	0.0665															0													51	50	50					17																	6663894		2203	4300	6503	SO:0001583	missense	54739			X99699	CCDS11080.1, CCDS11081.1	17p13.2	2010-03-19			ENSG00000132530	ENSG00000132530			30932	protein-coding gene	gene with protein product		606717				12029096, 11175744	Standard	NM_199139		Approved	BIRC4BP, XIAPAF1, HSXIAPAF1	uc002gdn.3	Q6GPH4		ENST00000361842.3:c.395G>A	17.37:g.6663894G>A	ENSP00000354822:p.Arg132His		A2T931|A2T932|A8K2L1|A8K9Y3|D3DTM6|Q6MZE8|Q8N557|Q99982	Missense_Mutation	SNP	ENST00000361842.3	37	CCDS11080.1	220	0.10073260073260074	98	0.1991869918699187	17	0.04696132596685083	76	0.13286713286713286	29	0.03825857519788918	G	14.62	2.589297	0.46214	.	.	ENSG00000132530	ENST00000361842;ENST00000441631;ENST00000346752;ENST00000438512	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	3.77	-4.73	0.03259	.	1.042900	0.07588	N	0.921505	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	D;D;P;D	0.62365	0.991;0.974;0.956;0.963	P;B;B;B	0.47430	0.547;0.4;0.2;0.301	T	0.05099	-1.0906	9	0.38643	T	0.18	-0.2545	5.9149	0.19050	0.297:0.0:0.5538:0.1493	rs2271232	132;113;132;72	C9J7Z8;Q6GPH4-2;Q6GPH4;B3KPW1	.;.;XAF1_HUMAN;.	H	132;132;113;132	ENSP00000354822:R132H;ENSP00000413199:R132H;ENSP00000341029:R113H;ENSP00000406233:R132H	ENSP00000341029:R113H	R	+	2	0	XAF1	6604618	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.822000	0.01711	-0.958000	0.03622	0.455000	0.32223	CGC		0.592	XAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439643.5	NM_017523		A	6663894	G	A	6663894	3	1	757	1	0	0	0	0	1	0	0	0	17424	1087	38	1	409	1	XAF1	17	6663894	Missense_Mutation	SNP	G	TCGA-KO-8417-01A-11D-2310-10	1799780	6663894	74531316	70	44667											
MYH4	4622	bcgsc.ca	37	17	10348354	10348354	+	Missense_Mutation	SNP	T	T	C	rs2277649	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr17:10348354T>C	ENST00000255381.2	-	37	5515	c.5405A>G	c.(5404-5406)gAt>gGt	p.D1802G	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1802			D -> G (in dbSNP:rs2277649). {ECO:0000269|PubMed:10388558}.		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						CTCAGCCTCATCCAGACGGAG	0.567													T|||	2278	0.454872	0.233	0.4755	5008	,	,		18937	0.8214		0.3181	False		,,,				2504	0.5031															0								T	GLY/ASP	1137,3269	405.8+/-333.6	141,855,1207	143	140	141		5405	5.5	0.9	17	dbSNP_100	141	3050,5550	469.9+/-367.7	536,1978,1786	no	missense	MYH4	NM_017533.2	94	677,2833,2993	CC,CT,TT		35.4651,25.8057,32.1928	possibly-damaging	1802/1940	10348354	4187,8819	2203	4300	6503	SO:0001583	missense	4622				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.5405A>G	17.37:g.10348354T>C	ENSP00000255381:p.Asp1802Gly			Missense_Mutation	SNP	ENST00000255381.2	37	CCDS11154.1	979	0.4482600732600733	106	0.21544715447154472	162	0.44751381215469616	473	0.8269230769230769	238	0.31398416886543534	T	19.34	3.809062	0.70797	0.258057	0.354651	ENSG00000141048	ENST00000255381	T	0.78481	-1.18	5.5	5.5	0.81552	Myosin tail (1);	0.000000	0.38605	U	0.001638	T	0.00012	0.0000	H	0.95079	3.62	0.09310	P	0.999999246958	D	0.63880	0.993	D	0.70487	0.969	T	0.47761	-0.9092	9	0.87932	D	0	.	15.8867	0.79255	0.0:0.0:0.0:1.0	rs2277649;rs61532457;rs2277649	1802	Q9Y623	MYH4_HUMAN	G	1802	ENSP00000255381:D1802G	ENSP00000255381:D1802G	D	-	2	0	MYH4	10289079	1.000000	0.71417	0.938000	0.37757	0.170000	0.22686	6.257000	0.72480	2.214000	0.71695	0.482000	0.46254	GAT		0.567	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		C	10348354	T	C	10348354	3	2	757	1	0	0	0	0	1	0	0	0	10039	1435	50	3	430	3	MYH4	17	10348354	Missense_Mutation	SNP	T	TCGA-KO-8417-01A-11D-2310-10	3684460	10348354	70846856	71	44668											
ELAC2	60528	broad.mit.edu	37	17	12898343	12898343	+	Silent	SNP	C	C	T			TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr17:12898343C>T	ENST00000338034.4	-	20	2084	c.1845G>A	c.(1843-1845)gaG>gaA	p.E615E	ELAC2_ENST00000426905.3_Silent_p.E575E|ELAC2_ENST00000395962.2_Silent_p.E596E	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	615					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						GACTGGAGATCTCAGCCCCTT	0.453																																																0													174	181	179					17																	12898343		2203	4300	6503	SO:0001819	synonymous_variant	60528			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.1845G>A	17.37:g.12898343C>T			B4DPL9|Q6IA94|Q9HAS8|Q9HAS9|Q9NVT1	Silent	SNP	ENST00000338034.4	37	CCDS11164.1																																																																																				0.453	ELAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129934.5			T	12898343	C	T	12898343	2	4	757	1	0	0	0	0	0	0	0	1	5049	912	32	2		2	ELAC2	17	12898343	Silent	SNP	C	TCGA-KO-8417-01A-11D-2310-10	2549989	12898343	68296867	72	44669											
LRRC48	83450	bcgsc.ca	37	17	17896205	17896205	+	Missense_Mutation	SNP	C	C	T	rs4584886	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr17:17896205C>T	ENST00000399187.1	+	6	789	c.571C>T	c.(571-573)Cgg>Tgg	p.R191W	LRRC48_ENST00000584166.1_Missense_Mutation_p.R191W|LRRC48_ENST00000313838.8_Missense_Mutation_p.R191W|LRRC48_ENST00000399182.1_Missense_Mutation_p.R191W|LRRC48_ENST00000411504.2_Missense_Mutation_p.R191W	NM_031294.3	NP_112584.3	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48	191	LRRCT.		R -> W (in dbSNP:rs4584886). {ECO:0000269|PubMed:15489334}.			cytoplasm (GO:0005737)				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7	all_neural(463;0.228)					CCTGGACTACCGGCGCATTGA	0.542													C|||	2915	0.582069	0.4153	0.5187	5008	,	,		20965	0.8641		0.3748	False		,,,				2504	0.7751															0								C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	1688,2530		355,978,776	93	93	93		571,571,571,571	3	1	17	dbSNP_111	93	2759,5693		452,1855,1919	yes	missense,missense,missense,missense	LRRC48	NM_001130090.1,NM_001130091.1,NM_001130092.1,NM_031294.3	101,101,101,101	807,2833,2695	TT,TC,CC		32.6432,40.019,35.0987	probably-damaging,probably-damaging,probably-damaging,probably-damaging	191/524,191/458,191/458,191/524	17896205	4447,8223	2109	4226	6335	SO:0001583	missense	83450			AK093317	CCDS45622.1, CCDS45623.1	17p11.2	2014-07-18			ENSG00000171962	ENSG00000171962			25384	protein-coding gene	gene with protein product						11997338, 23354437	Standard	NM_001130090		Approved	DKFZP586M1120	uc021trk.1	Q9H069	OTTHUMG00000059355	ENST00000399187.1:c.571C>T	17.37:g.17896205C>T	ENSP00000382140:p.Arg191Trp		A8KAE6|Q86SF9|Q86W73|Q8IWG0	Missense_Mutation	SNP	ENST00000399187.1	37	CCDS45622.1	1170	0.5357142857142857	220	0.44715447154471544	167	0.4613259668508287	503	0.8793706293706294	280	0.36939313984168864	C	18.50	3.637604	0.67130	0.40019	0.326432	ENSG00000171962	ENST00000313838;ENST00000448396;ENST00000411504;ENST00000399184;ENST00000399187;ENST00000399182;ENST00000399185	T;T;T;T	0.55760	0.5;0.5;0.5;0.5	5.22	3.04	0.35103	.	0.200569	0.51477	D	0.000091	T	0.00012	0.0000	M	0.86740	2.835	0.09310	P	0.999999999725949	D;D	0.89917	1.0;1.0	D;D	0.74674	0.964;0.984	T	0.11916	-1.0568	9	0.72032	D	0.01	-17.5	12.1487	0.54038	0.4277:0.5723:0.0:0.0	rs4584886;rs17854522;rs17859520;rs59823215;rs4584886	191;191	Q9H069;Q9H069-2	LRC48_HUMAN;.	W	191	ENSP00000326870:R191W;ENSP00000394020:R191W;ENSP00000382140:R191W;ENSP00000382136:R191W	ENSP00000326870:R191W	R	+	1	2	LRRC48	17836930	1.000000	0.71417	0.986000	0.45419	0.690000	0.40134	3.333000	0.52090	1.156000	0.42514	0.655000	0.94253	CGG		0.542	LRRC48-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131945.3	NM_031294		T	17896205	C	T	17896205	3	4	757	1	0	0	0	0	1	0	0	0	9007	643	23	1	585	1	LRRC48	17	17896205	Missense_Mutation	SNP	C	TCGA-KO-8417-01A-11D-2310-10	4997862	17896205	63299005	73	44670											
SLC5A10	125206	mdanderson.org	37	17	18918396	18918396	+	Silent	SNP	G	G	C	rs2074279	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr17:18918396G>C	ENST00000395645.3	+	11	1143	c.1125G>C	c.(1123-1125)gcG>gcC	p.A375A	SLC5A10_ENST00000395647.2_Silent_p.A391A|SLC5A10_ENST00000395642.1_Silent_p.A308A|SLC5A10_ENST00000417251.2_Silent_p.A339A|SLC5A10_ENST00000317977.6_Silent_p.A308A|SLC5A10_ENST00000395643.2_Silent_p.A348A	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	375					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						TGATGCTGGCGGCGCTCATGT	0.677													C|||	997	0.199081	0.3336	0.0663	5008	,	,		12776	0.3413		0.0288	False		,,,				2504	0.1401															0								C	,	1209,3197	706.8+/-407.4	151,907,1145	60	49	53		1125,1173	-4.3	0.8	17	dbSNP_96	53	187,8413	810.1+/-407.1	2,183,4115	no	coding-synonymous,coding-synonymous	SLC5A10	NM_001042450.1,NM_152351.3	,	153,1090,5260	CC,CG,GG		2.1744,27.4399,10.7335	,	375/597,391/613	18918396	1396,11610	2203	4300	6503	SO:0001819	synonymous_variant	125206				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.1125G>C	17.37:g.18918396G>C			A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	Silent	SNP	ENST00000395645.3	37	CCDS42275.1																																																																																				0.677	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132129.2	NM_152351		C	18918396	G	C	18918396	2	2	757	1	0	0	0	0	0	0	0	1	14668	1103	39	4		4	SLC5A10	17	18918396	Silent	SNP	G	TCGA-KO-8417-01A-11D-2310-10	1022191	18918396	62276814	74	44671											
PSMD12	5718	broad.mit.edu	37	17	65340732	65340732	+	Missense_Mutation	SNP	A	A	G	rs2230680	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr17:65340732A>G	ENST00000356126.3	-	9	1180	c.1073T>C	c.(1072-1074)gTt>gCt	p.V358A	PSMD12_ENST00000357146.4_Missense_Mutation_p.V338A	NM_002816.3	NP_002807.1	O00232	PSD12_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 12	358	PCI.		V -> A (in dbSNP:rs2230680).		anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)				breast(1)|large_intestine(4)|lung(6)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)					ATGTTCAACAACTCTGTTCTT	0.328													A|||	8	0.00159744	0.0061	0.0	5008	,	,		17078	0.0		0.0	False		,,,				2504	0.0															0								A	ALA/VAL,ALA/VAL	34,4372	38.4+/-70.7	1,32,2170	83	81	82		1073,1013	5.6	1	17	dbSNP_98	82	0,8600		0,0,4300	yes	missense,missense	PSMD12	NM_002816.3,NM_174871.2	64,64	1,32,6470	GG,GA,AA		0.0,0.7717,0.2614	probably-damaging,probably-damaging	358/457,338/437	65340732	34,12972	2203	4300	6503	SO:0001583	missense	5718			AB003103	CCDS11669.1, CCDS11670.1	17q24.3	2008-05-22			ENSG00000197170	ENSG00000197170		"Proteasome (prosome, macropain) subunits"	9557	protein-coding gene	gene with protein product		604450				9426256	Standard	NM_002816		Approved	p55, Rpn5	uc002jfy.3	O00232	OTTHUMG00000140376	ENST00000356126.3:c.1073T>C	17.37:g.65340732A>G	ENSP00000348442:p.Val358Ala		A6NP15|Q53HA2|Q6P053	Missense_Mutation	SNP	ENST00000356126.3	37	CCDS11669.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	25.4	4.635451	0.87760	0.007717	0.0	ENSG00000197170	ENST00000356126;ENST00000357146	T;T	0.33654	1.4;1.4	5.59	5.59	0.84812	Winged helix-turn-helix transcription repressor DNA-binding (1);Proteasome component (PCI) domain (2);	0.000000	0.85682	D	0.000000	T	0.62732	0.2452	M	0.93462	3.42	0.80722	D	1	D;D	0.65815	0.995;0.995	D;D	0.72338	0.977;0.977	T	0.76961	-0.2765	10	0.87932	D	0	-21.0461	15.7585	0.78058	1.0:0.0:0.0:0.0	rs2230680;rs35331578;rs2230680	338;358	A6NP15;O00232	.;PSD12_HUMAN	A	358;338	ENSP00000348442:V358A;ENSP00000349667:V338A	ENSP00000348442:V358A	V	-	2	0	PSMD12	62771194	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	5.894000	0.69806	2.121000	0.65114	0.397000	0.26171	GTT		0.328	PSMD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277103.1	NM_002816, NM_174871		G	65340732	A	G	65340732	3	3	757	1	0	0	0	0	1	0	0	0	12700	43	2	3	309	3	PSMD12	17	65340732	Missense_Mutation	SNP	A	TCGA-KO-8417-01A-11D-2310-10	46422336	65340732	15854478	75	44672											
EVPL	2125	bcgsc.ca	37	17	74006474	74006474	+	Nonsense_Mutation	SNP	G	G	A	rs151046085		TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr17:74006474G>A	ENST00000301607.3	-	22	3065	c.2812C>T	c.(2812-2814)Cag>Tag	p.Q938*	EVPL_ENST00000586740.1_Nonsense_Mutation_p.Q960*	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	938	Central fibrous rod domain.				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						TGGCTCCTCTGCGCCTCCAGC	0.662																																																0								G	stop/GLN	2,4404	2.1+/-5.4	0,2,2201	39	40	40		2812	4.8	1	17	dbSNP_134	40	0,8600		0,0,4300	yes	stop-gained	EVPL	NM_001988.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		938/2034	74006474	2,13004	2203	4300	6503	SO:0001587	stop_gained	2125			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.2812C>T	17.37:g.74006474G>A	ENSP00000301607:p.Gln938*		A0AUV5	Nonsense_Mutation	SNP	ENST00000301607.3	37	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	G	37	6.602199	0.97697	4.54E-4	0.0	ENSG00000167880	ENST00000301607	.	.	.	4.85	4.85	0.62838	.	0.342375	0.31589	N	0.007395	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-31.8895	13.3284	0.60473	0.0:0.0:0.842:0.158	.	.	.	.	X	938	.	ENSP00000301607:Q938X	Q	-	1	0	EVPL	71518069	1.000000	0.71417	0.978000	0.43139	0.142000	0.21351	3.745000	0.55119	2.397000	0.81536	0.561000	0.74099	CAG		0.662	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		A	74006474	G	A	74006474	4	1	757	1	0	0	0	0	0	1	0	0	5294	1328	46	2	3293	2	EVPL	17	74006474	Nonsense_Mutation	SNP	G	TCGA-KO-8417-01A-11D-2310-10	8665742	74006474	7188736	76	44673											
P4HB	5034	hgsc.bcm.edu	37	17	79801890	79801891	+	Stop_Codon_Del	DEL	AC	AC	-			TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	AC	AC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr17:79801890_79801891delAC	ENST00000331483.4	-	0	1746_1747				P4HB_ENST00000439918.2_Stop_Codon_Del|P4HB_ENST00000472244.1_5'Flank|P4HB_ENST00000576390.1_Intron|RP11-498C9.2_ENST00000576784.1_RNA	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta polypeptide						cell redox homeostasis (GO:0045454)|cellular response to hypoxia (GO:0071456)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|protein folding (GO:0006457)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|procollagen-proline 4-dioxygenase complex (GO:0016222)	poly(A) RNA binding (GO:0044822)|procollagen-proline 4-dioxygenase activity (GO:0004656)|protein disulfide isomerase activity (GO:0003756)			NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			TTTGCGTATTACAGTTCATCTT	0.609																																					Colon(49;444 983 1296 7887 42561)											0																																										SO:0001567	stop_retained_variant	5034			J02783	CCDS11787.1	17q25	2011-10-19	2008-12-09		ENSG00000185624	ENSG00000185624	1.14.11.2, 5.3.4.1	"Protein disulfide isomerases"	8548	protein-coding gene	gene with protein product	"protein disulfide isomerase-associated 1", "protein disulfide isomerase family A, member 1", "collagen prolyl 4-hydroxylase beta"	176790	"procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase; thyroid hormone binding protein p55)", "procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase-associated 1)", "procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide"	PO4DB, ERBA2L		8111381	Standard	NM_000918		Approved	PDIA1, PROHB, DSI, GIT, PDI, PO4HB, P4Hbeta	uc002kbn.1	P07237	OTTHUMG00000150269	Exception_encountered	17.37:g.79801890_79801891delAC	Exception_encountered		B2RDQ2|P30037|P32079|Q15205|Q6LDE5	Frame_Shift_Del	DEL	ENST00000331483.4	37	CCDS11787.1																																																																																				0.609	P4HB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317250.3	NM_000918		-	79801891	AC	-	79801890	7	5	757	1	0	1	0	1	0	0	0	0	11361	404	14	0	5	0	P4HB	17	79801890	Stop_Codon_Del	DEL	AC	TCGA-KO-8417-01A-11D-2310-10	5795416	79801890	1393320	77	44674	470	2									
P4HB	5034	bcgsc.ca	37	17	79801891	79801892	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	AC	AC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr17:79801891_79801892delAC	ENST00000331483.4	-	11	1745_1746	c.1523_1524delGT	c.(1522-1524)cgtfs	p.R508fs	P4HB_ENST00000439918.2_Frame_Shift_Del_p.R464fs|P4HB_ENST00000472244.1_5'Flank|P4HB_ENST00000576390.1_Intron|RP11-498C9.2_ENST00000576784.1_RNA	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta polypeptide	508					cell redox homeostasis (GO:0045454)|cellular response to hypoxia (GO:0071456)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|protein folding (GO:0006457)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|procollagen-proline 4-dioxygenase complex (GO:0016222)	poly(A) RNA binding (GO:0044822)|procollagen-proline 4-dioxygenase activity (GO:0004656)|protein disulfide isomerase activity (GO:0003756)			NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			TTGCGTATTACAGTTCATCTTT	0.609																																					Colon(49;444 983 1296 7887 42561)											0																																										SO:0001589	frameshift_variant	5034			J02783	CCDS11787.1	17q25	2011-10-19	2008-12-09		ENSG00000185624	ENSG00000185624	1.14.11.2, 5.3.4.1	"Protein disulfide isomerases"	8548	protein-coding gene	gene with protein product	"protein disulfide isomerase-associated 1", "protein disulfide isomerase family A, member 1", "collagen prolyl 4-hydroxylase beta"	176790	"procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase; thyroid hormone binding protein p55)", "procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase-associated 1)", "procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide"	PO4DB, ERBA2L		8111381	Standard	NM_000918		Approved	PDIA1, PROHB, DSI, GIT, PDI, PO4HB, P4Hbeta	uc002kbn.1	P07237	OTTHUMG00000150269	ENST00000331483.4:c.1523_1524delGT	17.37:g.79801891_79801892delAC	ENSP00000327801:p.Arg508fs		B2RDQ2|P30037|P32079|Q15205|Q6LDE5	Frame_Shift_Del	DEL	ENST00000331483.4	37	CCDS11787.1																																																																																				0.609	P4HB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317250.3	NM_000918		-	79801892	AC	-	79801891	7	5	757	1	0	1	0	1	0	0	0	0	11361	465	17	0	6	0	P4HB	17	79801891	Frame_Shift_Del	DEL	AC	TCGA-KO-8417-01A-11D-2310-10	1	79801891	1393319	78	44675	470	2									
POTEC	388468	mdanderson.org	37	18	14542884	14542884	+	Missense_Mutation	SNP	T	T	C	rs201764782		TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr18:14542884T>C	ENST00000358970.5	-	1	261	c.262A>G	c.(262-264)Aac>Gac	p.N88D	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	88										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						ATAAAGGAGTTGTCATGGTCT	0.607																																																0													53	58	56					18																	14542884		692	1591	2283	SO:0001583	missense	388468			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.262A>G	18.37:g.14542884T>C	ENSP00000351856:p.Asn88Asp			Missense_Mutation	SNP	ENST00000358970.5	37	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	t	0.003	-2.420683	0.00188	.	.	ENSG00000183206	ENST00000358970;ENST00000389891	T	0.22539	1.95	.	.	.	.	.	.	.	.	T	0.03390	0.0098	N	0.00483	-1.445	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.25152	-1.0140	7	0.02654	T	1	.	.	.	.	.	88	B2RU33	POTEC_HUMAN	D	88	ENSP00000351856:N88D	ENSP00000351856:N88D	N	-	1	0	POTEC	14532884	0.000000	0.05858	0.004000	0.12327	0.004000	0.04260	-0.876000	0.04201	-1.345000	0.02214	-1.352000	0.01234	AAC		0.607	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		C	14542884	T	C	14542884	3	2	757	1	0	0	0	0	1	0	0	0	12264	1812	63	3	1410	3	POTEC	18	14542884	Missense_Mutation	SNP	T	TCGA-KO-8417-01A-11D-2310-10		14542884	63534364	79	44676											
GRIN3B	116444	mdanderson.org	37	19	1009585	1009585	+	Missense_Mutation	SNP	C	C	G	rs10401454	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr19:1009585C>G	ENST00000234389.3	+	9	3135	c.3116C>G	c.(3115-3117)cCg>cGg	p.P1039R		NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	1039					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)	TCTGGCCGACCGGGGAGCCAG	0.652													-|||	1279	0.255391	0.2859	0.2565	5008	,	,		9642	0.1478		0.3171	False		,,,				2504	0.2607															0									ARG/PRO	490,2270		45,400,935	2	2	2		3116	-3.6	0	19	dbSNP_119	2	1532,4650		199,1134,1758	yes	missense	GRIN3B	NM_138690.1	103	244,1534,2693	GG,GC,CC		24.7816,17.7536,22.6124	benign	1039/1044	1009585	2022,6920	1380	3091	4471	SO:0001583	missense	116444				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.3116C>G	19.37:g.1009585C>G	ENSP00000234389:p.Pro1039Arg		Q5EAK7|Q7RTW9	Missense_Mutation	SNP	ENST00000234389.3	37	CCDS32861.1	564	0.25824175824175827	140	0.2845528455284553	104	0.287292817679558	73	0.12762237762237763	247	0.3258575197889182	C	3.647	-0.072382	0.07228	0.177536	0.247816	ENSG00000116032	ENST00000234389	T	0.11063	2.81	3.71	-3.57	0.04612	.	603.621000	0.00817	U	0.001548	T	0.00012	0.0000	N	0.08118	0	0.54753	P	1.6000000000016E-5	B	0.14805	0.011	B	0.04013	0.001	T	0.41787	-0.9489	9	0.07030	T	0.85	.	2.269	0.04086	0.1122:0.3933:0.2254:0.2691	rs10401454;rs58830778	1039	O60391	NMD3B_HUMAN	R	1039	ENSP00000234389:P1039R	ENSP00000234389:P1039R	P	+	2	0	GRIN3B	960585	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.539000	0.00937	-0.787000	0.04510	-2.078000	0.00380	CCG		0.652	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103923.2			G	1009585	C	G	1009585	3	3	757	1	0	0	0	0	1	0	0	0	6786	652	23	4	3150	4	GRIN3B	19	1009585	Missense_Mutation	SNP	C	TCGA-KO-8417-01A-11D-2310-10		1009585	58119398	80	44677											
MUC16	94025	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	19	8994179	8994179	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr19:8994179C>T	ENST00000397910.4	-	65	41709	c.41506G>A	c.(41506-41508)Ggc>Agc	p.G13836S	MUC16_ENST00000380951.5_Missense_Mutation_p.G477S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13839	SEA 12. {ECO:0000255|PROSITE- ProRule:PRU00188}.			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						TACAGAGGGCCAACACTGGTG	0.522																																																0													115	101	106					19																	8994179		1999	4173	6172	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.41506G>A	19.37:g.8994179C>T	ENSP00000381008:p.Gly13836Ser		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	15.37	2.812775	0.50527	.	.	ENSG00000181143	ENST00000397910;ENST00000380951	T;T	0.39056	1.1;1.1	3.74	1.56	0.23342	SEA (1);	0.203527	0.24523	N	0.037787	T	0.54013	0.1832	M	0.64997	1.995	.	.	.	P;D	0.71674	0.907;0.998	P;D	0.80764	0.623;0.994	T	0.61559	-0.7038	9	0.56958	D	0.05	.	6.2106	0.20628	0.0:0.7621:0.0:0.2379	.	21481;13836	Q8WXI7;B5ME49	MUC16_HUMAN;.	S	13836;477	ENSP00000381008:G13836S;ENSP00000370338:G477S	ENSP00000370338:G477S	G	-	1	0	MUC16	8855179	0.017000	0.18338	0.001000	0.08648	0.196000	0.23810	1.901000	0.39838	0.387000	0.25024	-0.157000	0.13467	GGC		0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	8994179	C	T	8994179	3	4	757	1	0	0	0	0	1	0	0	0	9975	594	21	2	2097	2	MUC16	19	8994179	Missense_Mutation	SNP	C	TCGA-KO-8417-01A-11D-2310-10	7984594	8994179	50134804	81	44678											
CCDC123	84902	hgsc.bcm.edu	37	19	33444556	33444556	+	Missense_Mutation	SNP	T	T	C	rs73579706	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr19:33444556T>C	ENST00000305768.5	-	4	545	c.457A>G	c.(457-459)Agt>Ggt	p.S153G	CEP89_ENST00000590597.2_Missense_Mutation_p.S153G	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	153					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						AGGTCATCACTGTGGCCTCCT	0.483																																																0													401	426	418					19																	33444556		2203	4300	6503	SO:0001583	missense	84902			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.457A>G	19.37:g.33444556T>C	ENSP00000306105:p.Ser153Gly		B9EGA6|Q8N5J8	Missense_Mutation	SNP	ENST00000305768.5	37	CCDS32987.1	.	.	.	.	.	.	.	.	.	.	T	3.578	-0.086165	0.07097	.	.	ENSG00000121289	ENST00000305768	T	0.31510	1.49	5.12	-10.2	0.00374	.	3.796690	0.00695	N	0.000748	T	0.07234	0.0183	N	0.01048	-1.04	0.09310	N	1	B;B;B	0.12013	0.005;0.0;0.0	B;B;B	0.08055	0.003;0.0;0.0	T	0.34725	-0.9817	10	0.22706	T	0.39	7.6155	0.6143	0.00767	0.2371:0.2982:0.1712:0.2935	.	124;153;153	Q8WUL5;Q96ST8-3;Q96ST8	.;.;CEP89_HUMAN	G	153	ENSP00000306105:S153G	ENSP00000306105:S153G	S	-	1	0	CEP89	38136396	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.650000	0.01991	-4.026000	0.00080	-0.951000	0.02657	AGT		0.483	CEP89-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451300.2	NM_032816		C	33444556	T	C	33444556	3	2	757	1	0	0	0	0	1	0	0	0	2761	1580	55	3	1958	3	CCDC123	19	33444556	Missense_Mutation	SNP	T	TCGA-KO-8417-01A-11D-2310-10	24450377	33444556	25684427	82	44679											
NUMBL	9253	mdanderson.org	37	19	41173898	41173898	+	Silent	SNP	T	T	C	rs59088184|rs79747129|rs71173669|rs141662737	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr19:41173898T>C	ENST00000252891.4	-	10	1472	c.1305A>G	c.(1303-1305)caA>caG	p.Q435Q	NUMBL_ENST00000540131.1_Silent_p.Q394Q|NUMBL_ENST00000598779.1_Silent_p.Q394Q	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	435	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)			gctgctgctgttgctgttgct	0.667																																																0													5	6	6					19																	41173898		1943	3908	5851	SO:0001819	synonymous_variant	9253			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.1305A>G	19.37:g.41173898T>C			Q7Z4J9	Silent	SNP	ENST00000252891.4	37	CCDS12561.1																																																																																				0.667	NUMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462749.2	NM_004756		C	41173898	T	C	41173898	2	2	757	1	0	0	0	0	0	0	0	1	10754	1722	60	3		3	NUMBL	19	41173898	Silent	SNP	T	TCGA-KO-8417-01A-11D-2310-10	7729342	41173898	17955085	83	44680											
PSG4	5672	mdanderson.org	37	19	43709647	43709647	+	Silent	SNP	G	G	A	rs12985206	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr19:43709647G>A	ENST00000405312.3	-	1	279	c.42C>T	c.(40-42)acC>acT	p.T14T	PSG4_ENST00000244295.9_Silent_p.T14T|PSG4_ENST00000433626.2_Silent_p.T14T	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	14					female pregnancy (GO:0007565)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				CCCCCTTCCAGGTGATGCGCT	0.597													G|||	3276	0.654153	0.6392	0.5274	5008	,	,		13710	0.7966		0.5865	False		,,,				2504	0.6871															0													62	61	61					19																	43709647		2186	4271	6457	SO:0001819	synonymous_variant	5672				CCDS33039.1, CCDS46093.1, CCDS62695.1	19q13.2	2013-01-29			ENSG00000243137	ENSG00000243137		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9521	protein-coding gene	gene with protein product	"pregnancy-specific beta-1-glycoprotein 4"	176393				2783133	Standard	NM_002780		Approved		uc002ovy.4	Q00888	OTTHUMG00000151544	ENST00000405312.3:c.42C>T	19.37:g.43709647G>A			E7EX79|Q13047|Q13048|Q15234|Q15240|Q9UQ76	Silent	SNP	ENST00000405312.3	37	CCDS46093.1																																																																																				0.597	PSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323073.1	NM_213633		A	43709647	G	A	43709647	2	1	757	1	0	0	0	0	0	0	0	1	12662	987	35	2		2	PSG4	19	43709647	Silent	SNP	G	TCGA-KO-8417-01A-11D-2310-10	2535749	43709647	15419336	84	44681											
ZNF180	7733	broad.mit.edu	37	19	44982053	44982053	+	Missense_Mutation	SNP	G	G	T			TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr19:44982053G>T	ENST00000221327.4	-	5	926	c.645C>A	c.(643-645)aaC>aaA	p.N215K	ZNF180_ENST00000391956.4_Missense_Mutation_p.N190K|ZNF180_ENST00000586637.1_3'UTR|ZNF180_ENST00000592529.1_Missense_Mutation_p.N188K|AC069278.4_ENST00000591684.1_lincRNA|ZNF180_ENST00000585514.1_5'Flank	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	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)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				TATGAAAATGGTTTCTTATGG	0.353																																					Esophageal Squamous(180;1353 2003 32862 46574 49854)											0													87	87	87					19																	44982053		2203	4300	6503	SO:0001583	missense	7733			AF192913	CCDS12639.1, CCDS62707.1, CCDS62708.1	19q13.2	2013-01-08	2006-08-22			ENSG00000167384		"Zinc fingers, C2H2-type", "-"	12970	protein-coding gene	gene with protein product		606740	"zinc finger protein 180 (HHZ168)"				Standard	NM_001288762		Approved	HHZ168	uc002ozf.4	Q9UJW8		ENST00000221327.4:c.645C>A	19.37:g.44982053G>T	ENSP00000221327:p.Asn215Lys		B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	Missense_Mutation	SNP	ENST00000221327.4	37	CCDS12639.1	.	.	.	.	.	.	.	.	.	.	G	0.572	-0.840767	0.02692	.	.	ENSG00000167384	ENST00000221327;ENST00000391956	T;T	0.06528	3.29;3.33	4.89	1.36	0.22044	.	0.296949	0.24386	N	0.038980	T	0.03739	0.0106	L	0.34521	1.04	0.25773	N	0.984811	B;B;B	0.12013	0.005;0.002;0.003	B;B;B	0.13407	0.009;0.004;0.004	T	0.39143	-0.9628	10	0.19147	T	0.46	-18.0554	1.5731	0.02619	0.1888:0.1773:0.4719:0.1619	.	190;214;215	G5E9B8;Q58F03;Q9UJW8	.;.;ZN180_HUMAN	K	215;190	ENSP00000221327:N215K;ENSP00000375818:N190K	ENSP00000221327:N215K	N	-	3	2	ZNF180	49673893	1.000000	0.71417	0.551000	0.28230	0.022000	0.10575	2.874000	0.48483	0.651000	0.30788	0.655000	0.94253	AAC		0.353	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451601.1	NM_013256		T	44982053	G	T	44982053	3	4	757	1	0	0	0	0	1	0	0	0	17753	1252	44	4	1437	4	ZNF180	19	44982053	Missense_Mutation	SNP	G	TCGA-KO-8417-01A-11D-2310-10	1272406	44982053	14146930	85	44682											
ZNF577	84765	bcgsc.ca	37	19	52375849	52375849	+	Missense_Mutation	SNP	T	T	A			TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr19:52375849T>A	ENST00000301399.5	-	7	1759	c.1394A>T	c.(1393-1395)gAa>gTa	p.E465V	ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000451628.2_Missense_Mutation_p.E406V|ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000420592.1_Missense_Mutation_p.E406V	NM_032679.2	NP_116068.2	Q9BSK1	ZN577_HUMAN	zinc finger protein 577	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CACATTCACTTCATTTGTGAG	0.348																																																0													59	56	57					19																	52375849		2203	4300	6503	SO:0001583	missense	84765			AL832871	CCDS12842.2, CCDS46160.1	19q13.41	2013-09-20			ENSG00000161551	ENSG00000161551		"Zinc fingers, C2H2-type", "-"	28673	protein-coding gene	gene with protein product						12477932	Standard	NM_032679		Approved	MGC4400	uc010yde.2	Q9BSK1	OTTHUMG00000157045	ENST00000301399.5:c.1394A>T	19.37:g.52375849T>A	ENSP00000301399:p.Glu465Val		A8K0B4|A8K6Z7|C9JFB9	Missense_Mutation	SNP	ENST00000301399.5	37	CCDS12842.2	.	.	.	.	.	.	.	.	.	.	.	1.312	-0.601860	0.03744	.	.	ENSG00000161551	ENST00000301399;ENST00000420592;ENST00000451628;ENST00000458390	T;T;T;T	0.07114	3.22;3.27;3.27;3.22	3.04	-3.78	0.04333	.	.	.	.	.	T	0.04952	0.0133	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	0.39522	-0.9610	9	0.87932	D	0	.	4.5645	0.12177	0.5822:0.0:0.2307:0.1871	.	465;406	Q9BSK1;Q9BSK1-2	ZN577_HUMAN;.	V	465;406;406;465	ENSP00000301399:E465V;ENSP00000413476:E406V;ENSP00000389652:E406V;ENSP00000404509:E465V	ENSP00000301399:E465V	E	-	2	0	ZNF577	57067661	0.000000	0.05858	0.023000	0.16930	0.157000	0.22087	-1.374000	0.02566	-0.952000	0.03649	-0.336000	0.08194	GAA		0.348	ZNF577-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347243.1	NM_032679		A	52375849	T	A	52375849	3	1	757	1	0	0	0	0	1	0	0	0	18014	1783	62	5	67	5	ZNF577	19	52375849	Missense_Mutation	SNP	T	TCGA-KO-8417-01A-11D-2310-10	7393796	52375849	6753134	86	44683											
MAVS	57506	bcgsc.ca	37	20	3838399	3838399	+	Missense_Mutation	SNP	T	T	A	rs11908032|rs34591263	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr20:3838399T>A	ENST00000428216.2	+	3	363	c.235T>A	c.(235-237)Tgt>Agt	p.C79S	MAVS_ENST00000416600.2_Intron|MAVS_ENST00000358134.6_Missense_Mutation_p.C79S	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	79			C -> F (in dbSNP:rs11905552).|C -> S (in dbSNP:rs11908032).		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						ACTGAGGGGCTGTGAGCTAGT	0.632													T|||	180	0.0359425	0.1301	0.0086	5008	,	,		14935	0.0		0.002	False		,,,				2504	0.0															0								T	,SER/CYS	26,4380		10,6,2187	139	112	121		,235	4.7	0.9	20	dbSNP_120	121	0,8600		0,0,4300	yes	intron,missense	MAVS	NM_001206491.1,NM_020746.4	,112	10,6,6487	AA,AT,TT		0.0,0.5901,0.1999	,probably-damaging	,79/541	3838399	26,12980	2203	4300	6503	SO:0001583	missense	57506			DQ174270	CCDS33437.1, CCDS56176.1	20p13	2009-04-02			ENSG00000088888	ENSG00000088888			29233	protein-coding gene	gene with protein product	"virus-induced signaling adaptor", "IFN-B promoter stimulator 1", "CARD adaptor inducing IFN-beta"	609676				16125763, 16153868	Standard	NM_020746		Approved	VISA, KIAA1271, IPS-1, Cardif	uc002wjw.4	Q7Z434	OTTHUMG00000031765	ENST00000428216.2:c.235T>A	20.37:g.3838399T>A	ENSP00000401980:p.Cys79Ser		A8K6X0|B2BD33|B2BD34|F5H6C8|Q2HWT5|Q3I0Y2|Q5T7I6|Q86VY7|Q9H1H3|Q9H4Y1|Q9H8D3|Q9ULE9	Missense_Mutation	SNP	ENST00000428216.2	37	CCDS33437.1	38	0.0173992673992674	36	0.07317073170731707	2	0.0055248618784530384	0	0.0	0	0.0	T	10.77	1.442585	0.25987	0.005901	0.0	ENSG00000088888	ENST00000428216;ENST00000358134	T;T	0.09538	2.97;2.97	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.02083	0.0065	M	0.63428	1.95	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.955;0.998;0.998	T	0.00032	-1.2277	10	0.51188	T	0.08	-14.2787	10.4331	0.44419	0.0:0.0:0.0:1.0	rs11908032	79;79;79	B2BD34;Q7Z434;Q7Z434-2	.;MAVS_HUMAN;.	S	79	ENSP00000401980:C79S;ENSP00000350852:C79S	ENSP00000350852:C79S	C	+	1	0	MAVS	3786399	0.993000	0.37304	0.915000	0.36163	0.035000	0.12851	3.409000	0.52657	1.950000	0.56595	0.496000	0.49642	TGT		0.632	MAVS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077784.3	NM_020746		A	3838399	T	A	3838399	3	1	757	1	0	0	0	0	1	0	0	0	9340	1580	55	5	241	5	MAVS	20	3838399	Missense_Mutation	SNP	T	TCGA-KO-8417-01A-11D-2310-10		3838399	59187121	87	44684	471	2									
MAVS	57506	mdanderson.org;bcgsc.ca	37	20	3838400	3838400	+	Missense_Mutation	SNP	G	G	T	rs11905552|rs34591263	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr20:3838400G>T	ENST00000428216.2	+	3	364	c.236G>T	c.(235-237)tGt>tTt	p.C79F	MAVS_ENST00000416600.2_Intron|MAVS_ENST00000358134.6_Missense_Mutation_p.C79F	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	79			C -> F (in dbSNP:rs11905552).|C -> S (in dbSNP:rs11908032).		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						CTGAGGGGCTGTGAGCTAGTT	0.632													G|||	180	0.0359425	0.1301	0.0086	5008	,	,		14916	0.0		0.002	False		,,,				2504	0.0															0								G	,PHE/CYS	16,4390		7,2,2194	140	112	121		,236	4.7	1	20	dbSNP_120	121	0,8600		0,0,4300	yes	intron,missense	MAVS	NM_001206491.1,NM_020746.4	,205	7,2,6494	TT,TG,GG		0.0,0.3631,0.123	,probably-damaging	,79/541	3838400	16,12990	2203	4300	6503	SO:0001583	missense	57506			DQ174270	CCDS33437.1, CCDS56176.1	20p13	2009-04-02			ENSG00000088888	ENSG00000088888			29233	protein-coding gene	gene with protein product	"virus-induced signaling adaptor", "IFN-B promoter stimulator 1", "CARD adaptor inducing IFN-beta"	609676				16125763, 16153868	Standard	NM_020746		Approved	VISA, KIAA1271, IPS-1, Cardif	uc002wjw.4	Q7Z434	OTTHUMG00000031765	ENST00000428216.2:c.236G>T	20.37:g.3838400G>T	ENSP00000401980:p.Cys79Phe		A8K6X0|B2BD33|B2BD34|F5H6C8|Q2HWT5|Q3I0Y2|Q5T7I6|Q86VY7|Q9H1H3|Q9H4Y1|Q9H8D3|Q9ULE9	Missense_Mutation	SNP	ENST00000428216.2	37	CCDS33437.1	38	0.0173992673992674	36	0.07317073170731707	2	0.0055248618784530384	0	0.0	0	0.0	G	9.560	1.118096	0.20877	0.003631	0.0	ENSG00000088888	ENST00000428216;ENST00000358134	T;T	0.10960	2.82;2.82	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.01976	0.0062	L	0.50919	1.6	0.80722	D	1	P;D;D	0.89917	0.617;1.0;1.0	B;D;D	0.91635	0.221;0.999;0.999	T	0.00018	-1.2372	10	0.72032	D	0.01	-14.2787	12.9462	0.58373	0.0:0.0:1.0:0.0	rs11905552;rs11905552	79;79;79	B2BD34;Q7Z434;Q7Z434-2	.;MAVS_HUMAN;.	F	79	ENSP00000401980:C79F;ENSP00000350852:C79F	ENSP00000350852:C79F	C	+	2	0	MAVS	3786400	1.000000	0.71417	0.987000	0.45799	0.051000	0.14879	4.206000	0.58473	2.407000	0.81776	0.609000	0.83330	TGT		0.632	MAVS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077784.3	NM_020746		T	3838400	G	T	3838400	3	4	757	1	0	0	0	0	1	0	0	0	9340	1377	48	4	242	4	MAVS	20	3838400	Missense_Mutation	SNP	G	TCGA-KO-8417-01A-11D-2310-10	1	3838400	59187120	88	44685	471	2									
PPDPF	79144	hgsc.bcm.edu	37	20	62152686	62152687	+	Frame_Shift_Ins	INS	-	-	CC	rs138230076		TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr20:62152686_62152687insCC	ENST00000370179.3	+	2	221_222	c.25_26insCC	c.(25-27)tcgfs	p.S9fs	PPDPF_ENST00000473620.1_Intron|PPDPF_ENST00000370177.1_Frame_Shift_Ins_p.S9fs	NM_024299.2	NP_077275.1	Q9H3Y8	PPDPF_HUMAN	pancreatic progenitor cell differentiation and proliferation factor	9					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)					kidney(1)|lung(2)|ovary(1)	4						CTCCAGCGGCTCGCTCGTGGCC	0.698																																																0																																										SO:0001589	frameshift_variant	79144			AL121829	CCDS13523.1	20q13.33	2013-07-23	2013-07-23	2009-06-04	ENSG00000125534	ENSG00000125534			16142	protein-coding gene	gene with protein product	"exocrine differentiation and proliferation factor"		"chromosome 20 open reading frame 149", "pancreatic progenitor cell differentiation and proliferation factor homolog (zebrafish)"	C20orf149			Standard	NM_024299		Approved	dJ697K14.9, exdpf	uc002yff.3	Q9H3Y8	OTTHUMG00000032978	Exception_encountered	20.37:g.62152686_62152687insCC	ENSP00000359198:p.Ser9fs		E1P5J2|Q4VXP1|Q9H3Y7	Frame_Shift_Ins	INS	ENST00000370179.3	37	CCDS13523.1																																																																																				0.698	PPDPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080149.1			CC	62152687	-	CC	62152686	7	5	757	1	0	1	1	0	0	0	0	0	12308	1551	54	0	27	0	PPDPF	20	62152686	Frame_Shift_Ins	INS	-	TCGA-KO-8417-01A-11D-2310-10	58314286	62152686	872834	89	44686											
SRMS	6725	bcgsc.ca	37	20	62173561	62173561	+	Missense_Mutation	SNP	C	C	G	rs310657	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr20:62173561C>G	ENST00000217188.1	-	5	941	c.901G>C	c.(901-903)Gtc>Ctc	p.V301L		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	301	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> L (in dbSNP:rs310657). {ECO:0000269|PubMed:17344846}.		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)			AGTTCCGTGACGATGTACACA	0.677													C|||	579	0.115615	0.3608	0.0576	5008	,	,		16696	0.0139		0.0258	False		,,,				2504	0.0225															0								C	LEU/VAL	1389,3009	452.2+/-349.9	215,959,1025	96	76	83		901	4.6	1	20	dbSNP_79	83	166,8434	77.5+/-140.1	0,166,4134	yes	missense	SRMS	NM_080823.2	32	215,1125,5159	GG,GC,CC		1.9302,31.5825,11.9634	probably-damaging	301/489	62173561	1555,11443	2199	4300	6499	SO:0001583	missense	6725				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.901G>C	20.37:g.62173561C>G	ENSP00000217188:p.Val301Leu			Missense_Mutation	SNP	ENST00000217188.1	37	CCDS13525.1	235	0.10760073260073261	192	0.3902439024390244	16	0.04419889502762431	10	0.017482517482517484	17	0.022427440633245383	C	17.54	3.416230	0.62511	0.315825	0.019302	ENSG00000125508	ENST00000217188	D	0.87179	-2.22	4.62	4.62	0.57501	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.124501	0.35936	N	0.002882	T	0.00012	0.0000	L	0.53780	1.695	0.31636	P	0.648475	B	0.33549	0.417	P	0.45377	0.478	T	0.01706	-1.1291	9	0.87932	D	0	.	12.0155	0.53311	0.0:0.9126:0.0:0.0873	rs310657;rs311541;rs1757734;rs58635261;rs310657	301	Q9H3Y6	SRMS_HUMAN	L	301	ENSP00000217188:V301L	ENSP00000217188:V301L	V	-	1	0	SRMS	61644005	1.000000	0.71417	1.000000	0.80357	0.211000	0.24417	1.512000	0.35812	2.120000	0.65058	0.561000	0.74099	GTC		0.677	SRMS-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080148.1	NM_080823		G	62173561	C	G	62173561	3	3	757	1	0	0	0	0	1	0	0	0	15157	536	19	4	581	4	SRMS	20	62173561	Missense_Mutation	SNP	C	TCGA-KO-8417-01A-11D-2310-10	20875	62173561	851959	90	44687											
ERG	2078	mdanderson.org	37	21	39795360	39795360	+	Silent	SNP	C	C	T	rs200326224		TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr21:39795360C>T	ENST00000417133.2	-	5	566	c.381G>A	c.(379-381)acG>acA	p.T127T	ERG_ENST00000288319.7_Silent_p.T120T|ERG_ENST00000398905.1_Silent_p.T120T|ERG_ENST00000398911.1_Silent_p.T127T|ERG_ENST00000453032.2_Silent_p.T28T|ERG_ENST00000398919.2_Silent_p.T127T|ERG_ENST00000398897.1_Silent_p.T28T|ERG_ENST00000442448.1_Silent_p.T127T|ERG_ENST00000398910.1_Silent_p.T127T|ERG_ENST00000429727.2_Silent_p.T120T|ERG_ENST00000398907.1_Silent_p.T120T	NM_001136154.1|NM_001243432.1	NP_001129626.1|NP_001230361.1	Q12809	KCNH2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	145	PAC. {ECO:0000255|PROSITE- ProRule:PRU00141}.				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)	TGCGCTCGTTCGTGGTCATGT	0.607			T	"EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"	"Ewing sarcoma, prostate, AML"								C|||	1	0.000199681	0.0	0.0	5008	,	,		15792	0.0		0.001	False		,,,				2504	0.0				Esophageal Squamous(130;336 1700 3010 3083 40589)		Dom	yes		21	21q22.3	2078	v-ets erythroblastosis virus E26 oncogene like (avian)		"M, E, L"	0								C	,,,	0,4406		0,0,2203	240	155	184		381,84,381,360	-6.6	0.6	21		184	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ERG	NM_001136154.1,NM_001136155.1,NM_004449.4,NM_182918.3	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	127/487,28/388,127/463,120/480	39795360	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2078				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.381G>A	21.37:g.39795360C>T			A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Silent	SNP	ENST00000417133.2	37	CCDS46648.1																																																																																				0.607	ERG-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207532.2	NM_182918		T	39795360	C	T	39795360	2	4	757	1	0	0	0	0	0	0	0	1	5224	871	31	1		1	ERG	21	39795360	Silent	SNP	C	TCGA-KO-8417-01A-11D-2310-10		39795360	8334535	91	44688											
KRTAP12-2	353323	bcgsc.ca	37	21	46086377	46086377	+	Missense_Mutation	SNP	A	A	G	rs2838622	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr21:46086377A>G	ENST00000360770.3	-	1	467	c.427T>C	c.(427-429)Tct>Cct	p.S143P	TSPEAR_ENST00000323084.4_Intron	NM_181684.2	NP_859012.1	P59991	KR122_HUMAN	keratin associated protein 12-2	143			S -> P (in dbSNP:rs2838622).			keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(1)|lung(3)	5						CAGCAGGAAGAGATACTGTAG	0.602													G|||	2918	0.582668	0.6967	0.5403	5008	,	,		19253	0.5655		0.492	False		,,,				2504	0.5695															0								G	,PRO/SER	2893,1387		1004,885,251	54	59	57		,427	1.8	0	21	dbSNP_100	57	3867,4609		924,2019,1295	yes	intron,missense	TSPEAR,KRTAP12-2	NM_144991.2,NM_181684.2	,74	1928,2904,1546	GG,GA,AA		45.6229,32.4065,47.0053	,benign	,143/147	46086377	6760,5996	2140	4238	6378	SO:0001583	missense	353323			AJ566389	CCDS42965.1	21q22.3	2006-03-13			ENSG00000221864	ENSG00000221864		"Keratin associated proteins"	20530	protein-coding gene	gene with protein product							Standard	NM_181684		Approved	KRTAP12.2, KAP12.2	uc002zfu.3	P59991	OTTHUMG00000057636	ENST00000360770.3:c.427T>C	21.37:g.46086377A>G	ENSP00000354001:p.Ser143Pro		A6NIS1|A6NMS9|Q0VAS4	Missense_Mutation	SNP	ENST00000360770.3	37	CCDS42965.1	1234	0.565018315018315	353	0.717479674796748	203	0.5607734806629834	303	0.5297202797202797	375	0.4947229551451187	g	0.003	-2.494097	0.00159	0.675935	0.456229	ENSG00000221864	ENST00000360770;ENST00000539483	T	0.02067	4.47	3.62	1.78	0.24846	.	.	.	.	.	T	0.00012	0.0000	N	0.00368	-1.59	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.15780	-1.0425	8	0.02654	T	1	.	5.8109	0.18465	0.3543:0.0:0.6457:0.0	rs2838622;rs61048872;rs2838622	143	P59991	KR122_HUMAN	P	143;93	ENSP00000354001:S143P	ENSP00000354001:S143P	S	-	1	0	KRTAP12-2	44910805	0.003000	0.15002	0.002000	0.10522	0.008000	0.06430	-0.301000	0.08232	-0.049000	0.13379	-0.355000	0.07637	TCT		0.602	KRTAP12-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128039.1	NM_181684		G	46086377	A	G	46086377	3	3	757	1	0	0	0	0	1	0	0	0	8521	304	11	3	17	3	KRTAP12-2	21	46086377	Missense_Mutation	SNP	A	TCGA-KO-8417-01A-11D-2310-10	6291017	46086377	2043518	92	44689											
CDC42EP1	11135	mdanderson.org	37	22	37964429	37964429	+	Missense_Mutation	SNP	T	T	C	rs200195385|rs62235034|rs66468174	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr22:37964429T>C	ENST00000249014.4	+	3	1198	c.778T>C	c.(778-780)Tca>Cca	p.S260P		NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN	CDC42 effector protein (Rho GTPase binding) 1	260	8 X 7 AA tandem repeats of [PT]-[AT]-A- [ENT]-[PT]-[PTS]-[AG].				positive regulation of pseudopodium assembly (GO:0031274)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)		p.N258_A264delNPSAPAA(3)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					TGCAAACCCCTCAGCACCTGC	0.667																																																3	Deletion - In frame(3)	large_intestine(2)|haematopoietic_and_lymphoid_tissue(1)											12	10	11					22																	37964429		2168	3775	5943	SO:0001583	missense	11135			M88338	CCDS13949.1	22q13.1	2008-06-11			ENSG00000128283	ENSG00000128283			17014	protein-coding gene	gene with protein product	"55 kDa bone marrow stromal/endothelial cell protein", "serum constituent protein"	606084				1629197, 10430899	Standard	NM_152243		Approved	MSE55, CEP1, Borg5	uc003asz.4	Q00587	OTTHUMG00000150591	ENST00000249014.4:c.778T>C	22.37:g.37964429T>C	ENSP00000249014:p.Ser260Pro		A8K825|Q96GN1	Missense_Mutation	SNP	ENST00000249014.4	37	CCDS13949.1	812	0.3717948717948718	78	0.15853658536585366	183	0.505524861878453	155	0.270979020979021	396	0.5224274406332454	T	0.070	-1.204174	0.01568	.	.	ENSG00000128283	ENST00000249014	T	0.31769	1.48	1.93	-3.86	0.04230	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.45011	-0.9290	8	0.06236	T	0.91	.	1.0989	0.01680	0.1719:0.4066:0.17:0.2515	rs62235034	260	Q00587	BORG5_HUMAN	P	260	ENSP00000249014:S260P	ENSP00000249014:S260P	S	+	1	0	CDC42EP1	36294375	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.184000	0.09698	-1.081000	0.03105	-1.073000	0.02249	TCA		0.667	CDC42EP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318993.1	NM_152243		C	37964429	T	C	37964429	3	2	757	1	0	0	0	0	1	0	0	0	3077	1551	54	3	784	3	CDC42EP1	22	37964429	Missense_Mutation	SNP	T	TCGA-KO-8417-01A-11D-2310-10		37964429	13340137	93	44690											
BAIAP2L2	80115	mdanderson.org	37	22	38483172	38483172	+	Silent	SNP	G	G	T	rs539447143	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr22:38483172G>T	ENST00000381669.3	-	11	1362	c.1218C>A	c.(1216-1218)tcC>tcA	p.S406S	CTA-228A9.3_ENST00000609162.1_lincRNA	NM_025045.4	NP_079321.3	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	406					filopodium assembly (GO:0046847)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|signal transduction (GO:0007165)	cell-cell contact zone (GO:0044291)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	phospholipid binding (GO:0005543)			large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	8	Melanoma(58;0.045)					gtgtcatgggggacatggagg	0.662													G|||	30	0.00599042	0.0068	0.0014	5008	,	,		13061	0.0		0.004	False		,,,				2504	0.0164															0													31	37	35					22																	38483172		1925	4122	6047	SO:0001819	synonymous_variant	80115			BC015619	CCDS43018.1	22q13.1	2005-02-09			ENSG00000128298	ENSG00000128298			26203	protein-coding gene	gene with protein product							Standard	NM_025045		Approved	FLJ22582	uc003auw.3	Q6UXY1	OTTHUMG00000151197	ENST00000381669.3:c.1218C>A	22.37:g.38483172G>T			B0QYE2|Q96BG7	Silent	SNP	ENST00000381669.3	37	CCDS43018.1																																																																																				0.662	BAIAP2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321727.1	NM_025045		T	38483172	G	T	38483172	2	4	757	1	0	0	0	0	0	0	0	1	1303	1219	43	4		4	BAIAP2L2	22	38483172	Silent	SNP	G	TCGA-KO-8417-01A-11D-2310-10	518743	38483172	12821394	94	44691	472	3									
BAIAP2L2	80115	mdanderson.org	37	22	38483174	38483174	+	Missense_Mutation	SNP	A	A	T	rs374089121|rs200930717|rs78489217	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr22:38483174A>T	ENST00000381669.3	-	11	1360	c.1216T>A	c.(1216-1218)Tcc>Acc	p.S406T	CTA-228A9.3_ENST00000609162.1_lincRNA	NM_025045.4	NP_079321.3	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	406					filopodium assembly (GO:0046847)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|signal transduction (GO:0007165)	cell-cell contact zone (GO:0044291)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	phospholipid binding (GO:0005543)	p.M405_S406insTSM(1)		large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	8	Melanoma(58;0.045)					gtcatgggggacatggaggtc	0.657													A|||	84	0.0167732	0.0076	0.0159	5008	,	,		13137	0.001		0.0278	False		,,,				2504	0.0348															1	Insertion - In frame(1)	ovary(1)											32	38	36					22																	38483174		1925	4121	6046	SO:0001583	missense	80115			BC015619	CCDS43018.1	22q13.1	2005-02-09			ENSG00000128298	ENSG00000128298			26203	protein-coding gene	gene with protein product							Standard	NM_025045		Approved	FLJ22582	uc003auw.3	Q6UXY1	OTTHUMG00000151197	ENST00000381669.3:c.1216T>A	22.37:g.38483174A>T	ENSP00000371085:p.Ser406Thr		B0QYE2|Q96BG7	Missense_Mutation	SNP	ENST00000381669.3	37	CCDS43018.1	254	0.1163003663003663	58	0.11788617886178862	58	0.16022099447513813	32	0.055944055944055944	106	0.13984168865435356	A	0.010	-1.753658	0.00663	.	.	ENSG00000128298	ENST00000381669;ENST00000402500;ENST00000428572	T;T	0.21543	2.0;2.0	0.235	-0.47	0.12131	.	2.310980	0.01612	N	0.022579	T	0.00039	0.0001	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27434	-1.0074	9	0.18276	T	0.48	.	.	.	.	.	406	Q6UXY1	BI2L2_HUMAN	T	406;406;97	ENSP00000371085:S406T;ENSP00000410074:S97T	ENSP00000371085:S406T	S	-	1	0	BAIAP2L2	36813120	0.121000	0.22262	0.001000	0.08648	0.001000	0.01503	0.410000	0.21098	-2.434000	0.00554	-2.582000	0.00168	TCC		0.657	BAIAP2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321727.1	NM_025045		T	38483174	A	T	38483174	3	4	757	1	0	0	0	0	1	0	0	0	1303	275	10	5	389	5	BAIAP2L2	22	38483174	Missense_Mutation	SNP	A	TCGA-KO-8417-01A-11D-2310-10	2	38483174	12821392	95	44692	472	3									
BAIAP2L2	80115	mdanderson.org	37	22	38483180	38483180	+	Missense_Mutation	SNP	A	A	G	rs111783779	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr22:38483180A>G	ENST00000381669.3	-	11	1354	c.1210T>C	c.(1210-1212)Tcc>Ccc	p.S404P	CTA-228A9.3_ENST00000609162.1_lincRNA	NM_025045.4	NP_079321.3	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	404					filopodium assembly (GO:0046847)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|signal transduction (GO:0007165)	cell-cell contact zone (GO:0044291)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	phospholipid binding (GO:0005543)			large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	8	Melanoma(58;0.045)					ggggacatggaggtcatggag	0.657													A|||	14	0.00279553	0.0061	0.0	5008	,	,		13299	0.0		0.001	False		,,,				2504	0.0051															0													34	41	39					22																	38483180		1927	4124	6051	SO:0001583	missense	80115			BC015619	CCDS43018.1	22q13.1	2005-02-09			ENSG00000128298	ENSG00000128298			26203	protein-coding gene	gene with protein product							Standard	NM_025045		Approved	FLJ22582	uc003auw.3	Q6UXY1	OTTHUMG00000151197	ENST00000381669.3:c.1210T>C	22.37:g.38483180A>G	ENSP00000371085:p.Ser404Pro		B0QYE2|Q96BG7	Missense_Mutation	SNP	ENST00000381669.3	37	CCDS43018.1	.	.	.	.	.	.	.	.	.	.	A	1.092	-0.663862	0.03428	.	.	ENSG00000128298	ENST00000381669;ENST00000402500;ENST00000428572	T;T	0.21031	2.03;2.03	0.208	0.208	0.15221	.	2.204600	0.02525	N	0.093019	T	0.08802	0.0218	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17992	-1.0351	9	0.05436	T	0.98	.	.	.	.	.	404	Q6UXY1	BI2L2_HUMAN	P	404;404;95	ENSP00000371085:S404P;ENSP00000410074:S95P	ENSP00000371085:S404P	S	-	1	0	BAIAP2L2	36813126	0.009000	0.17119	0.004000	0.12327	0.001000	0.01503	0.089000	0.15002	-0.794000	0.04468	-0.795000	0.03280	TCC		0.657	BAIAP2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321727.1	NM_025045		G	38483180	A	G	38483180	3	3	757	1	0	0	0	0	1	0	0	0	1303	304	11	3	395	3	BAIAP2L2	22	38483180	Missense_Mutation	SNP	A	TCGA-KO-8417-01A-11D-2310-10	6	38483180	12821386	96	44693	472	3									
PHF21B	112885	hgsc.bcm.edu	37	22	45283998	45283998	+	Missense_Mutation	SNP	C	C	G			TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr22:45283998C>G	ENST00000313237.5	-	10	1192	c.1042G>C	c.(1042-1044)Gag>Cag	p.E348Q	PHF21B_ENST00000447824.3_Missense_Mutation_p.R286P|PHF21B_ENST00000403565.1_Missense_Mutation_p.E144Q|PHF21B_ENST00000396103.3_Missense_Mutation_p.E306Q|PHF21B_ENST00000404079.2_Missense_Mutation_p.E294Q	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	348							zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		TGGGTGATCTCGTTCTGGAAG	0.692																																																0													12	11	12					22																	45283998		2109	4127	6236	SO:0001583	missense	112885			AK091480	CCDS14061.1, CCDS56234.1, CCDS63504.1	22q13.31	2013-01-28			ENSG00000056487	ENSG00000056487		"Zinc fingers, PHD-type"	25161	protein-coding gene	gene with protein product			"PHD finger protein 4"	PHF4		12477932	Standard	NM_138415		Approved	BHC80L, FLJ34161	uc011aql.2	Q96EK2	OTTHUMG00000151199	ENST00000313237.5:c.1042G>C	22.37:g.45283998C>G	ENSP00000324403:p.Glu348Gln		B0QYW3|B0QYW4|B3KRU4|B7Z4F8|Q5TFL2|Q6ICC0	Missense_Mutation	SNP	ENST00000313237.5	37	CCDS14061.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.68|12.68	2.009195|2.009195	0.35415|0.35415	.|.	.|.	ENSG00000056487|ENSG00000056487	ENST00000403565;ENST00000313237;ENST00000396103;ENST00000404079|ENST00000447824	T;T;T;T|T	0.55413|0.42900	0.52;0.52;0.52;0.52|0.96	4.13|4.13	4.13|4.13	0.48395|0.48395	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);|.	0.080425|.	0.48286|.	D|.	0.000197|.	T|T	0.39572|0.39572	0.1083|0.1083	L|L	0.45581|0.45581	1.43|1.43	0.35018|0.35018	D|D	0.757597|0.757597	D;D;D;D|B	0.67145|0.09022	0.99;0.964;0.996;0.989|0.002	P;P;P;P|B	0.60949|0.08055	0.869;0.676;0.881;0.794|0.003	T|T	0.50583|0.50583	-0.8811|-0.8811	10|9	0.33141|0.48119	T|T	0.24|0.1	-28.4847|-28.4847	16.5776|16.5776	0.84705|0.84705	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	306;294;348;144|286	Q96EK2-3;B7Z4F8;Q96EK2;B1AHC5|B7Z657	.;.;PF21B_HUMAN;.|.	Q|P	144;348;306;294|286	ENSP00000385053:E144Q;ENSP00000324403:E348Q;ENSP00000379410:E306Q;ENSP00000385105:E294Q|ENSP00000388619:R286P	ENSP00000324403:E348Q|ENSP00000388619:R286P	E|R	-|-	1|2	0|0	PHF21B|PHF21B	43662662|43662662	0.999000|0.999000	0.42202|0.42202	0.884000|0.884000	0.34674|0.34674	0.105000|0.105000	0.19272|0.19272	4.394000|4.394000	0.59671|0.59671	2.106000|2.106000	0.64143|0.64143	0.462000|0.462000	0.41574|0.41574	GAG|CGA		0.692	PHF21B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321731.2	NM_138415		G	45283998	C	G	45283998	3	3	757	1	0	0	0	0	1	0	0	0	11836	893	31	4	569	4	PHF21B	22	45283998	Missense_Mutation	SNP	C	TCGA-KO-8417-01A-11D-2310-10	6800818	45283998	6020568	97	44694											
CXorf22	170063	broad.mit.edu;mdanderson.org;bcgsc.ca	37	X	35969403	35969403	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chrX:35969403G>A	ENST00000297866.5	+	5	878	c.812G>A	c.(811-813)cGt>cAt	p.R271H		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	271										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						AAACATGCACGTGTATACAAT	0.413																																																0													72	63	66					X																	35969403		2202	4300	6502	SO:0001583	missense	170063			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.812G>A	X.37:g.35969403G>A	ENSP00000297866:p.Arg271His		Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	G	3.433	-0.115726	0.06881	.	.	ENSG00000165164	ENST00000297866	T	0.13420	2.59	5.76	3.31	0.37934	.	0.993117	0.08188	N	0.984326	T	0.10594	0.0259	L	0.36672	1.1	0.09310	N	1	P	0.52316	0.952	B	0.44044	0.439	T	0.14783	-1.0460	10	0.14252	T	0.57	-20.7771	2.0991	0.03675	0.2631:0.0768:0.1427:0.5173	.	271	Q6ZTR5	CX022_HUMAN	H	271	ENSP00000297866:R271H	ENSP00000297866:R271H	R	+	2	0	CXorf22	35879324	0.006000	0.16342	0.001000	0.08648	0.006000	0.05464	0.902000	0.28459	0.264000	0.21851	-0.490000	0.04691	CGT		0.413	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		A	35969403	G	A	35969403	3	1	757	1	0	0	0	0	1	0	0	0	4104	1145	40	1	830	1	CXorf22	23	35969403	Missense_Mutation	SNP	G	TCGA-KO-8417-01A-11D-2310-10		35969403	119301157	98	44695											
PDZD11	51248	broad.mit.edu;mdanderson.org;bcgsc.ca	37	X	69506937	69506937	+	Missense_Mutation	SNP	G	G	T			TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chrX:69506937G>T	ENST00000239666.4	-	7	550	c.418C>A	c.(418-420)Cac>Aac	p.H140N	PDZD11_ENST00000374454.1_Missense_Mutation_p.H140N|PDZD11_ENST00000473667.1_5'Flank|KIF4A_ENST00000374388.3_5'Flank	NM_016484.4	NP_057568.1	Q5EBL8	PDZ11_HUMAN	PDZ domain containing 11	140						basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)	protein C-terminus binding (GO:0008022)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)	9						ACTTTCTAGTGCACAGTCCTC	0.483																																																0													58	47	51					X																	69506937		2202	4297	6499	SO:0001583	missense	51248			AF151061	CCDS14400.1	Xq13.1	2008-02-05		2006-01-24	ENSG00000120509	ENSG00000120509			28034	protein-coding gene	gene with protein product		300632		PDZK11		11042152, 12975309	Standard	NM_016484		Approved		uc004dyd.1	Q5EBL8	OTTHUMG00000021771	ENST00000239666.4:c.418C>A	X.37:g.69506937G>T	ENSP00000239666:p.His140Asn		D3DVU3|Q6UWE1|Q9P0Q1	Missense_Mutation	SNP	ENST00000239666.4	37	CCDS14400.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.170797	0.78452	.	.	ENSG00000120509	ENST00000239666;ENST00000374454	T;T	0.39997	1.05;1.05	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.53562	0.1804	L	0.27053	0.805	0.80722	D	1	D;D	0.67145	0.996;0.981	D;D	0.75484	0.986;0.932	T	0.56902	-0.7902	10	0.87932	D	0	.	17.55	0.87873	0.0:0.0:1.0:0.0	.	171;140	Q5EBL8-2;Q5EBL8	.;PDZ11_HUMAN	N	140	ENSP00000239666:H140N;ENSP00000363578:H140N	ENSP00000239666:H140N	H	-	1	0	PDZD11	69423662	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.142000	0.77339	2.618000	0.88619	0.600000	0.82982	CAC		0.483	PDZD11-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057060.1	NM_016484		T	69506937	G	T	69506937	3	4	757	1	0	0	0	0	1	0	0	0	11702	1319	46	4	8	4	PDZD11	23	69506937	Missense_Mutation	SNP	G	TCGA-KO-8417-01A-11D-2310-10	33537534	69506937	85763623	99	44696											
RPS6KA6	27330	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	X	83361951	83361951	+	Silent	SNP	A	A	G			TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chrX:83361951A>G	ENST00000262752.2	-	14	1216	c.1209T>C	c.(1207-1209)ccT>ccC	p.P403P	RPS6KA6_ENST00000543399.1_Silent_p.P403P|RPS6KA6_ENST00000495332.1_5'Flank	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	403					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						CACTTGTGATAGGAGTGATTT	0.353																																																0													78	72	74					X																	83361951		2202	4300	6502	SO:0001819	synonymous_variant	27330			AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"ribosomal protein S6 kinase, 90kD, polypeptide 6"			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.1209T>C	X.37:g.83361951A>G			B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Silent	SNP	ENST00000262752.2	37	CCDS14451.1																																																																																				0.353	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057372.1	NM_014496		G	83361951	A	G	83361951	2	3	757	1	0	0	0	0	0	0	0	1	13661	407	15	3		3	RPS6KA6	23	83361951	Silent	SNP	A	TCGA-KO-8417-01A-11D-2310-10	13855014	83361951	71908609	100	44697											
RBMX	27316	mdanderson.org	37	X	135956462	135956462	+	Missense_Mutation	SNP	G	G	C	rs74463481		TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chrX:135956462G>C	ENST00000320676.7	-	9	1169	c.1015C>G	c.(1015-1017)Cgt>Ggt	p.R339G	RBMX_ENST00000431446.3_Intron|RBMX_ENST00000565438.1_Missense_Mutation_p.R211G|RBMX_ENST00000570135.1_Missense_Mutation_p.R204G|RBMX_ENST00000496459.2_5'Flank|RBMX_ENST00000562646.1_3'UTR	NM_002139.3	NP_002130.2	P38159	RBMX_HUMAN	RNA binding motif protein, X-linked	339	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)					ACCCGATCACGACCACTTGAG	0.537																																																0																																										SO:0001583	missense	27316				CCDS14661.1, CCDS55510.1	Xq26	2013-05-23	2003-09-12		ENSG00000147274	ENSG00000147274		"RNA binding motif (RRM) containing"	9910	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein G"	300199	"RNA binding motif protein, X chromosome"			10391206, 10391207	Standard	NM_002139		Approved	RNMX, hnRNP-G, HNRNPG	uc004fae.2	P38159	OTTHUMG00000022517	ENST00000320676.7:c.1015C>G	X.37:g.135956462G>C	ENSP00000359645:p.Arg339Gly		B4E3U4|D3DWH0|E9PG86|Q5JQ67|Q8N8Y7|Q969R3	Missense_Mutation	SNP	ENST00000320676.7	37	CCDS14661.1	.	.	.	.	.	.	.	.	.	.	.	12.06	1.824057	0.32237	.	.	ENSG00000147274	ENST00000320676;ENST00000449161	T	0.81247	-1.47	5.4	4.54	0.55810	.	0.000000	0.85682	U	0.000000	T	0.77350	0.4117	L	0.59436	1.845	0.19300	P	0.9999701562	P	0.47034	0.889	B	0.40101	0.319	D	0.84520	0.0627	9	0.72032	D	0.01	.	13.8398	0.63432	0.0758:0.0:0.9242:0.0	.	339	P38159	HNRPG_HUMAN	G	339;326	ENSP00000359645:R339G	ENSP00000359645:R339G	R	-	1	0	RBMX	135784128	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.693000	0.61753	1.168000	0.42723	-0.176000	0.13171	CGT		0.537	RBMX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058507.1	NM_002139		C	135956462	G	C	135956462	3	2	757	1	0	0	0	0	1	0	0	0	13157	1058	37	4	219	4	RBMX	23	135956462	Missense_Mutation	SNP	G	TCGA-KO-8417-01A-11D-2310-10	52594511	135956462	19314098	101	44698	473	2									
RBMX	27316	mdanderson.org	37	X	135956467	135956467	+	Missense_Mutation	SNP	C	C	T	rs35899675		TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chrX:135956467C>T	ENST00000320676.7	-	9	1164	c.1010G>A	c.(1009-1011)aGt>aAt	p.S337N	RBMX_ENST00000431446.3_Intron|RBMX_ENST00000565438.1_Missense_Mutation_p.S209N|RBMX_ENST00000570135.1_Missense_Mutation_p.S202N|RBMX_ENST00000496459.2_5'Flank|RBMX_ENST00000562646.1_3'UTR	NM_002139.3	NP_002130.2	P38159	RBMX_HUMAN	RNA binding motif protein, X-linked	337	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)	p.S337N(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					ATCACGACCACTTGAGTAGAG	0.527																																																1	Substitution - Missense(1)	large_intestine(1)											126	116	119					X																	135956467		2203	4300	6503	SO:0001583	missense	27316				CCDS14661.1, CCDS55510.1	Xq26	2013-05-23	2003-09-12		ENSG00000147274	ENSG00000147274		"RNA binding motif (RRM) containing"	9910	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein G"	300199	"RNA binding motif protein, X chromosome"			10391206, 10391207	Standard	NM_002139		Approved	RNMX, hnRNP-G, HNRNPG	uc004fae.2	P38159	OTTHUMG00000022517	ENST00000320676.7:c.1010G>A	X.37:g.135956467C>T	ENSP00000359645:p.Ser337Asn		B4E3U4|D3DWH0|E9PG86|Q5JQ67|Q8N8Y7|Q969R3	Missense_Mutation	SNP	ENST00000320676.7	37	CCDS14661.1	.	.	.	.	.	.	.	.	.	.	.	14.40	2.523817	0.44866	.	.	ENSG00000147274	ENST00000320676;ENST00000449161	T	0.77229	-1.08	5.4	5.4	0.78164	.	0.134440	0.49916	U	0.000121	D	0.83959	0.5367	L	0.43152	1.355	0.23661	P	0.99717437	D	0.57899	0.981	D	0.67900	0.954	D	0.83628	0.0143	9	0.44086	T	0.13	.	18.4308	0.90624	0.0:1.0:0.0:0.0	rs55701431	337	P38159	HNRPG_HUMAN	N	337;324	ENSP00000359645:S337N	ENSP00000359645:S337N	S	-	2	0	RBMX	135784133	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.933000	0.63484	2.380000	0.81148	0.600000	0.82982	AGT		0.527	RBMX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058507.1	NM_002139		T	135956467	C	T	135956467	3	4	757	1	0	0	0	0	1	0	0	0	13157	565	20	2	224	2	RBMX	23	135956467	Missense_Mutation	SNP	C	TCGA-KO-8417-01A-11D-2310-10	5	135956467	19314093	102	44699	473	2									
CTTNBP2NL	55917	hgsc.bcm.edu	37	1	112999075	112999075	+	Missense_Mutation	SNP	A	A	G			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr1:112999075A>G	ENST00000271277.6	+	6	1186	c.961A>G	c.(961-963)Aga>Gga	p.R321G		NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	321					negative regulation of transmembrane transport (GO:0034763)|negative regulation of transporter activity (GO:0032410)|protein dephosphorylation (GO:0006470)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		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)		TCCAGCAGAAAGAACCCATGG	0.483																																																0													136	140	138					1																	112999075		2203	4300	6503	SO:0001583	missense	55917			AB037854	CCDS845.1	1p13.2	2008-02-05			ENSG00000143079	ENSG00000143079			25330	protein-coding gene	gene with protein product		615100				10718198	Standard	NM_018704		Approved	DKFZp547A023	uc001ebx.3	Q9P2B4	OTTHUMG00000011154	ENST00000271277.6:c.961A>G	chr1.hg19:g.112999075A>G	ENSP00000271277:p.Arg321Gly		B3KMS5|Q96B40	Missense_Mutation	SNP	ENST00000271277.6	hg19	CCDS845.1	.	.	.	.	.	.	.	.	.	.	A	2.835	-0.241767	0.05906	.	.	ENSG00000143079	ENST00000271277	T	0.22945	1.93	5.88	4.73	0.59995	.	0.247257	0.38778	N	0.001578	T	0.08714	0.0216	L	0.44542	1.39	0.09310	N	1	B	0.17038	0.02	B	0.14023	0.01	T	0.22208	-1.0223	10	0.22109	T	0.4	-12.5708	12.215	0.54402	0.8572:0.1428:0.0:0.0	.	321	Q9P2B4	CT2NL_HUMAN	G	321	ENSP00000271277:R321G	ENSP00000271277:R321G	R	+	1	2	CTTNBP2NL	112800598	0.600000	0.26899	0.921000	0.36526	0.055000	0.15305	1.467000	0.35321	1.017000	0.39495	0.533000	0.62120	AGA		0.483	CTTNBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030686.1	NM_018704		G	112999075	A	G	112999075	3	3	758	1	0	0	0	0	1	0	0	0	4048	64	3	3	975	3	CTTNBP2NL	1	112999075	Missense_Mutation	SNP	A	TCGA-KV-A6GD-01A-11D-A31X-10		112999075	136251546	1	44700											
ANKRD35	148741	hgsc.bcm.edu	37	1	145561841	145561841	+	Missense_Mutation	SNP	G	G	A	rs201815402		TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr1:145561841G>A	ENST00000355594.4	+	10	1616	c.1529G>A	c.(1528-1530)cGg>cAg	p.R510Q		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	510										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GATGCTGCCCGGGGGGCTTTG	0.632																																					Melanoma(9;127 754 22988 51047)											0													87	104	98					1																	145561841		2201	4300	6501	SO:0001583	missense	148741			AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"Ankyrin repeat domain containing"	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.1529G>A	chr1.hg19:g.145561841G>A	ENSP00000347802:p.Arg510Gln		A6NEU0|B4DL62|Q3MJ10|Q96LS3	Missense_Mutation	SNP	ENST00000355594.4	hg19	CCDS919.1	.	.	.	.	.	.	.	.	.	.	g	13.79	2.341545	0.41498	.	.	ENSG00000198483	ENST00000453670;ENST00000355594	T	0.67865	-0.29	5.23	4.31	0.51392	.	0.342769	0.20873	N	0.084127	T	0.46756	0.1409	M	0.70595	2.14	0.80722	D	1	B	0.32324	0.364	B	0.24006	0.05	T	0.51364	-0.8715	10	0.34782	T	0.22	-6.7716	11.0303	0.47769	0.0:0.0:0.8146:0.1853	.	510	Q8N283	ANR35_HUMAN	Q	419;510	ENSP00000347802:R510Q	ENSP00000347802:R510Q	R	+	2	0	ANKRD35	144273198	0.749000	0.28305	0.965000	0.40720	0.652000	0.38707	1.901000	0.39838	1.405000	0.46838	0.651000	0.88453	CGG		0.632	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	NM_144698		A	145561841	G	A	145561841	3	1	758	1	0	0	0	0	1	0	0	0	664	1116	39	1	1567	1	ANKRD35	1	145561841	Missense_Mutation	SNP	G	TCGA-KV-A6GD-01A-11D-A31X-10	32562766	145561841	103688780	2	44701											
ILDR2	387597	hgsc.bcm.edu	37	1	166890003	166890003	+	Missense_Mutation	SNP	C	C	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr1:166890003C>T	ENST00000271417.3	-	9	1880	c.1825G>A	c.(1825-1827)Gac>Aac	p.D609N	ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000528703.1_Missense_Mutation_p.D550N|ILDR2_ENST00000526687.1_Missense_Mutation_p.D501N|ILDR2_ENST00000469934.2_Intron|ILDR2_ENST00000525740.1_Missense_Mutation_p.D482N|ILDR2_ENST00000529071.1_Missense_Mutation_p.D590N	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	609					cell differentiation (GO:0030154)|homeostasis of number of cells within a tissue (GO:0048873)|insulin secretion (GO:0030073)|pancreas development (GO:0031016)|response to glucose (GO:0009749)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						TAGGGCAGGTCGCGGCCGCGG	0.687																																																0													6	9	8					1																	166890003		2076	4108	6184	SO:0001583	missense	387597			AF503509	CCDS1256.1	1q24.1	2008-12-18	2008-12-18	2008-12-18	ENSG00000143195	ENSG00000143195			18131	protein-coding gene	gene with protein product	"LISCH-like"		"chromosome 1 open reading frame 32"	C1orf32			Standard	NM_199351		Approved		uc001gdx.2	Q71H61	OTTHUMG00000034320	ENST00000271417.3:c.1825G>A	chr1.hg19:g.166890003C>T	ENSP00000271417:p.Asp609Asn			Missense_Mutation	SNP	ENST00000271417.3	hg19	CCDS1256.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.069172	0.76301	.	.	ENSG00000143195	ENST00000271417;ENST00000525740;ENST00000529071;ENST00000526687;ENST00000528703	T;T;T;T;T	0.77750	0.5;-1.12;0.5;-1.12;-0.12	4.76	4.76	0.60689	.	3.853080	0.00892	N	0.002254	T	0.64638	0.2616	L	0.56769	1.78	0.35061	D	0.761595	P	0.49358	0.923	B	0.36030	0.216	T	0.57464	-0.7807	9	0.62326	D	0.03	.	12.8493	0.57848	0.1631:0.8369:0.0:0.0	.	609	Q71H61	ILDR2_HUMAN	N	609;482;590;501;550	ENSP00000271417:D609N;ENSP00000436120:D482N;ENSP00000436882:D590N;ENSP00000434273:D501N;ENSP00000432750:D550N	ENSP00000271417:D609N	D	-	1	0	ILDR2	165156627	1.000000	0.71417	0.997000	0.53966	0.735000	0.41995	4.789000	0.62446	2.171000	0.68590	0.561000	0.74099	GAC		0.687	ILDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082880.2	NM_199351		T	166890003	C	T	166890003	3	4	758	1	0	0	0	0	1	0	0	0	7712	884	31	1	102	1	ILDR2	1	166890003	Missense_Mutation	SNP	C	TCGA-KV-A6GD-01A-11D-A31X-10	21328162	166890003	82360618	3	44702											
TPR	7175	hgsc.bcm.edu	37	1	186316562	186316562	+	Silent	SNP	A	A	G			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr1:186316562A>G	ENST00000367478.4	-	22	3101	c.2805T>C	c.(2803-2805)gaT>gaC	p.D935D		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	935					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)		TCACAAGATCATCCACATCTT	0.368			T	NTRK1	papillary thyroid																																		Dom	yes		1	1q25	7175	translocated promoter region		E	0													213	200	204					1																	186316562		1964	4159	6123	SO:0001819	synonymous_variant	7175			U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"translocated promoter region (to activated MET oncogene)"			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.2805T>C	chr1.hg19:g.186316562A>G			Q15655|Q5SWY0|Q99968	Silent	SNP	ENST00000367478.4	hg19	CCDS41446.1																																																																																				0.368	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		G	186316562	A	G	186316562	2	3	758	1	0	0	0	0	0	0	0	1	16421	214	8	3		3	TPR	1	186316562	Silent	SNP	A	TCGA-KV-A6GD-01A-11D-A31X-10	19426559	186316562	62934059	4	44703											
ASPM	259266	hgsc.bcm.edu	37	1	197072290	197072290	+	Missense_Mutation	SNP	A	A	G			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr1:197072290A>G	ENST00000367409.4	-	18	6347	c.6091T>C	c.(6091-6093)Tat>Cat	p.Y2031H	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2031	IQ 14. {ECO:0000255|PROSITE- ProRule:PRU00116}.				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						ATACCACGATAAGCTGACTGT	0.328																																																0													94	99	97					1																	197072290		2203	4298	6501	SO:0001583	missense	259266			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.6091T>C	chr1.hg19:g.197072290A>G	ENSP00000356379:p.Tyr2031His		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	hg19	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	a	19.52	3.842459	0.71488	.	.	ENSG00000066279	ENST00000367409	T	0.27557	1.66	5.6	4.46	0.54185	.	0.174809	0.40302	N	0.001123	T	0.59959	0.2232	M	0.90650	3.135	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.63541	-0.6614	10	0.41790	T	0.15	.	11.3347	0.49496	0.8639:0.0:0.0:0.1361	.	2031	Q8IZT6	ASPM_HUMAN	H	2031	ENSP00000356379:Y2031H	ENSP00000356379:Y2031H	Y	-	1	0	ASPM	195338913	1.000000	0.71417	0.632000	0.29296	0.972000	0.66771	7.212000	0.77941	0.930000	0.37217	0.524000	0.50904	TAT		0.328	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		G	197072290	A	G	197072290	3	3	758	1	0	0	0	0	1	0	0	0	1056	362	13	3	4386	3	ASPM	1	197072290	Missense_Mutation	SNP	A	TCGA-KV-A6GD-01A-11D-A31X-10	10755728	197072290	52178331	5	44704											
IFT172	26160	hgsc.bcm.edu	37	2	27702392	27702392	+	Missense_Mutation	SNP	T	T	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr2:27702392T>A	ENST00000260570.3	-	10	1092	c.989A>T	c.(988-990)tAt>tTt	p.Y330F	IFT172_ENST00000359466.6_Missense_Mutation_p.Y330F|IFT172_ENST00000416524.2_Missense_Mutation_p.Y309F	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	330					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)					AGGTCCCACATACGTCAACTC	0.507																																																0													164	142	150					2																	27702392		2203	4300	6503	SO:0001583	missense	26160			AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"Intraflagellar transport homologs", "WD repeat domain containing"	30391	protein-coding gene	gene with protein product	"wimple homolog"	607386	"intraflagellar transport 172 homolog (Chlamydomonas)"			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.989A>T	chr2.hg19:g.27702392T>A	ENSP00000260570:p.Tyr330Phe		A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	ENST00000260570.3	hg19	CCDS1755.1	.	.	.	.	.	.	.	.	.	.	T	18.09	3.547345	0.65311	.	.	ENSG00000138002	ENST00000260570;ENST00000359466;ENST00000416524	T;T;T	0.23147	1.92;1.92;1.92	5.64	5.64	0.86602	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.30230	0.0758	M	0.64404	1.975	0.80722	D	1	B;P;B;B	0.35821	0.394;0.523;0.394;0.322	B;B;B;B	0.38378	0.228;0.272;0.144;0.2	T	0.04320	-1.0960	10	0.25106	T	0.35	-9.0488	14.6686	0.68926	0.0:0.0:0.0:1.0	.	330;330;330;330	A5PKZ0;Q9UG01-2;E7EP25;Q9UG01	.;.;.;IF172_HUMAN	F	330;330;309	ENSP00000260570:Y330F;ENSP00000352443:Y330F;ENSP00000407408:Y309F	ENSP00000260570:Y330F	Y	-	2	0	IFT172	27555896	1.000000	0.71417	0.988000	0.46212	0.937000	0.57800	7.558000	0.82253	2.138000	0.66242	0.533000	0.62120	TAT		0.507	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662		A	27702392	T	A	27702392	3	1	758	1	0	0	0	0	1	0	0	0	7559	1406	49	5	4416	5	IFT172	2	27702392	Missense_Mutation	SNP	T	TCGA-KV-A6GD-01A-11D-A31X-10		27702392	215496981	6	44705											
TCF7L1	83439	hgsc.bcm.edu	37	2	85361150	85361150	+	Silent	SNP	C	C	G			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr2:85361150C>G	ENST00000282111.3	+	2	536	c.261C>G	c.(259-261)cgC>cgG	p.R87R		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	87					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						CGGAGAGGCGCCCGCAGCCCG	0.697																																																0													19	25	23					2																	85361150		2200	4299	6499	SO:0001819	synonymous_variant	83439			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.261C>G	chr2.hg19:g.85361150C>G			Q53R97|Q6PD70|Q9NP00	Silent	SNP	ENST00000282111.3	hg19	CCDS1971.1																																																																																				0.697	TCF7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252301.2	NM_031283		G	85361150	C	G	85361150	2	3	758	1	0	0	0	0	0	0	0	1	15702	726	26	4		4	TCF7L1	2	85361150	Silent	SNP	C	TCGA-KV-A6GD-01A-11D-A31X-10	57658758	85361150	157838223	7	44706											
RNF103	7844	hgsc.bcm.edu	37	2	86832185	86832185	+	Missense_Mutation	SNP	A	A	G			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr2:86832185A>G	ENST00000237455.4	-	4	1807	c.839T>C	c.(838-840)aTt>aCt	p.I280T	CHMP3_ENST00000439940.2_Intron|RNF103_ENST00000477307.1_5'UTR|AC015971.2_ENST00000597638.1_RNA|AC015971.2_ENST00000424788.1_RNA|AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000439077.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	280					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						ATATATGCCAATATCTGTCAT	0.353																																																0													45	48	47					2																	86832185		2203	4300	6503	SO:0001583	missense	7844			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.839T>C	chr2.hg19:g.86832185A>G	ENSP00000237455:p.Ile280Thr		A6NFV6|B2RAG4|Q53SU6|Q8IVB9	Missense_Mutation	SNP	ENST00000237455.4	hg19	CCDS33237.1	.	.	.	.	.	.	.	.	.	.	A	11.95	1.790231	0.31685	.	.	ENSG00000239305	ENST00000237455	T	0.48522	0.81	5.1	5.1	0.69264	.	0.052243	0.85682	D	0.000000	T	0.43033	0.1229	L	0.51422	1.61	0.53688	D	0.999973	B	0.20052	0.041	B	0.16289	0.015	T	0.28073	-1.0055	10	0.30078	T	0.28	-13.0155	14.881	0.70534	1.0:0.0:0.0:0.0	.	280	O00237	RN103_HUMAN	T	280	ENSP00000237455:I280T	ENSP00000237455:I280T	I	-	2	0	RNF103	86685696	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.953000	0.93041	1.937000	0.56155	0.377000	0.23210	ATT		0.353	RNF103-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330041.2	NM_005667		G	86832185	A	G	86832185	3	3	758	1	0	0	0	0	1	0	0	0	13429	101	4	3	1222	3	RNF103	2	86832185	Missense_Mutation	SNP	A	TCGA-KV-A6GD-01A-11D-A31X-10	1471035	86832185	156367188	8	44707											
MALL	7851	hgsc.bcm.edu	37	2	110873286	110873286	+	Silent	SNP	G	G	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr2:110873286G>A	ENST00000272462.2	-	1	857	c.84C>T	c.(82-84)ttC>ttT	p.F28F	MALL_ENST00000427178.1_Silent_p.F28F	NM_005434.4	NP_005425.1	Q13021	MALL_HUMAN	mal, T-cell differentiation protein-like	28	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cholesterol homeostasis (GO:0042632)	clathrin-coated vesicle (GO:0030136)|cytoplasmic membrane-bounded vesicle (GO:0016023)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	9				Epithelial(1;0.0546)|STAD - Stomach adenocarcinoma(1;0.18)		GGAAGAAGGCGAAAGGGATGG	0.726																																																0													21	22	21					2																	110873286		2184	4286	6470	SO:0001819	synonymous_variant	7851			U17077	CCDS2085.1	2q13	2008-02-05			ENSG00000144063	ENSG00000144063			6818	protein-coding gene	gene with protein product		602022				9326933	Standard	NM_005434		Approved	BENE	uc002tfk.3	Q13021	OTTHUMG00000131196	ENST00000272462.2:c.84C>T	chr2.hg19:g.110873286G>A			B3KWR6|Q9BTU0	Silent	SNP	ENST00000272462.2	hg19	CCDS2085.1																																																																																				0.726	MALL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253921.1	NM_005434		A	110873286	G	A	110873286	2	1	758	1	0	0	0	0	0	0	0	1	9203	1049	37	1		1	MALL	2	110873286	Silent	SNP	G	TCGA-KV-A6GD-01A-11D-A31X-10	24041101	110873286	132326087	9	44708											
SLC20A1	6574	hgsc.bcm.edu	37	2	113418053	113418053	+	Missense_Mutation	SNP	T	T	C			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr2:113418053T>C	ENST00000272542.3	+	9	2236	c.1697T>C	c.(1696-1698)cTc>cCc	p.L566P		NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	566					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						TGGCTTCTACTCTATGGTGGT	0.458																																																0													180	174	176					2																	113418053		2203	4300	6503	SO:0001583	missense	6574				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.1697T>C	chr2.hg19:g.113418053T>C	ENSP00000272542:p.Leu566Pro		Q08344|Q6DHX8|Q9UQ82	Missense_Mutation	SNP	ENST00000272542.3	hg19	CCDS2099.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.570460	0.86542	.	.	ENSG00000144136	ENST00000272542	D	0.91996	-2.95	5.81	5.81	0.92471	.	0.062816	0.64402	D	0.000004	D	0.95191	0.8441	M	0.68593	2.085	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.79108	0.992;0.992	D	0.95405	0.8493	10	0.66056	D	0.02	-33.1091	14.1127	0.65132	0.0:0.0:0.0:1.0	.	566;566	A7LNJ1;Q8WUM9	.;S20A1_HUMAN	P	566	ENSP00000272542:L566P	ENSP00000272542:L566P	L	+	2	0	SLC20A1	113134524	1.000000	0.71417	0.926000	0.36857	0.997000	0.91878	8.040000	0.89188	2.226000	0.72624	0.482000	0.46254	CTC		0.458	SLC20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254086.2	NM_005415		C	113418053	T	C	113418053	3	2	758	1	0	0	0	0	1	0	0	0	14444	1551	54	3	1727	3	SLC20A1	2	113418053	Missense_Mutation	SNP	T	TCGA-KV-A6GD-01A-11D-A31X-10	2544767	113418053	129781320	10	44709											
INHBB	3625	hgsc.bcm.edu	37	2	121106693	121106693	+	Missense_Mutation	SNP	G	G	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr2:121106693G>A	ENST00000295228.3	+	2	513	c.467G>A	c.(466-468)cGg>cAg	p.R156Q		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	156					activin receptor signaling pathway (GO:0032924)|cell differentiation (GO:0030154)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|cellular response to starvation (GO:0009267)|defense response (GO:0006952)|fat cell differentiation (GO:0045444)|growth (GO:0040007)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of hepatocyte growth factor biosynthetic process (GO:0048178)|negative regulation of insulin secretion (GO:0046676)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|response to mechanical stimulus (GO:0009612)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	cytokine activity (GO:0005125)|hormone activity (GO:0005179)|host cell surface receptor binding (GO:0046789)|protein homodimerization activity (GO:0042803)	p.R156Q(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				GCCTCCTCCCGGGTCCGCCTA	0.557																																																1	Substitution - Missense(1)	large_intestine(1)											53	58	56					2																	121106693		2203	4300	6503	SO:0001583	missense	3625				CCDS2132.1	2q14.2	2014-01-30	2007-07-30		ENSG00000163083	ENSG00000163083		"Endogenous ligands"	6067	protein-coding gene	gene with protein product		147390	"inhibin, beta B (activin AB beta polypeptide)"			3345731	Standard	NM_002193		Approved		uc002tmn.2	P09529	OTTHUMG00000131437	ENST00000295228.3:c.467G>A	chr2.hg19:g.121106693G>A	ENSP00000295228:p.Arg156Gln		Q53T31|Q8N1D3	Missense_Mutation	SNP	ENST00000295228.3	hg19	CCDS2132.1	.	.	.	.	.	.	.	.	.	.	G	10.96	1.497539	0.26861	.	.	ENSG00000163083	ENST00000295228	T	0.66995	-0.24	5.09	5.09	0.68999	Transforming growth factor-beta, N-terminal (1);	0.555848	0.17053	N	0.188863	T	0.53850	0.1822	L	0.31664	0.95	0.33909	D	0.639429	B	0.24823	0.112	B	0.26094	0.066	T	0.59316	-0.7477	10	0.30854	T	0.27	-3.725	11.2497	0.49017	0.0848:0.0:0.9151:0.0	.	156	P09529	INHBB_HUMAN	Q	156	ENSP00000295228:R156Q	ENSP00000295228:R156Q	R	+	2	0	INHBB	120823163	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	5.966000	0.70395	2.804000	0.96469	0.655000	0.94253	CGG		0.557	INHBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254234.1			A	121106693	G	A	121106693	3	1	758	1	0	0	0	0	1	0	0	0	7744	1116	39	1	473	1	INHBB	2	121106693	Missense_Mutation	SNP	G	TCGA-KV-A6GD-01A-11D-A31X-10	7688640	121106693	122092680	11	44710											
ANKRD44	91526	hgsc.bcm.edu	37	2	197878244	197878244	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr2:197878244delG	ENST00000328737.2	-	18	1916	c.1840delC	c.(1840-1842)catfs	p.H614fs	ANKRD44_ENST00000282272.8_Frame_Shift_Del_p.H631fs|ANKRD44_ENST00000337207.5_Frame_Shift_Del_p.H614fs|ANKRD44_ENST00000450567.1_Frame_Shift_Del_p.H614fs			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	639										NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CCTGAGGCATGAAGTGGGGTT	0.443																																																0													168	160	163					2																	197878244		2203	4300	6503	SO:0001589	frameshift_variant	91526			AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	25259	protein-coding gene	gene with protein product	"protein phosphatase 6 ankyrin repeat subunit B"						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.1840delC	chr2.hg19:g.197878244delG	ENSP00000331516:p.His614fs		Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Frame_Shift_Del	DEL	ENST00000328737.2	hg19																																																																																					0.443	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	NM_153697		-	197878244	G	-	197878244	7	5	758	1	0	1	0	1	0	0	0	0	672	1290	45	0	955	0	ANKRD44	2	197878244	Frame_Shift_Del	DEL	G	TCGA-KV-A6GD-01A-11D-A31X-10	76771551	197878244	45321129	12	44711											
EEF1B2	1933	hgsc.bcm.edu	37	2	207027278	207027278	+	Missense_Mutation	SNP	A	A	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr2:207027278A>T	ENST00000392222.2	+	5	838	c.463A>T	c.(463-465)Atg>Ttg	p.M155L	NDUFS1_ENST00000233190.6_5'Flank|EEF1B2_ENST00000236957.5_Missense_Mutation_p.M155L|SNORA41_ENST00000384675.1_RNA|EEF1B2_ENST00000392221.1_Missense_Mutation_p.M155L|SNORD51_ENST00000384320.2_RNA	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	155					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)	translation elongation factor activity (GO:0003746)			breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						TGAGACAGATATGGCGAAATT	0.388																																																0													125	132	129					2																	207027278		2203	4300	6503	SO:0001583	missense	1933			X60489	CCDS2367.1	2q33.3	2011-04-28			ENSG00000114942	ENSG00000114942			3208	protein-coding gene	gene with protein product		600655				8250921	Standard	NM_001959		Approved		uc002vbf.1	P24534	OTTHUMG00000132891	ENST00000392222.2:c.463A>T	chr2.hg19:g.207027278A>T	ENSP00000376056:p.Met155Leu		A8K795|Q6IBH9	Missense_Mutation	SNP	ENST00000392222.2	hg19	CCDS2367.1	.	.	.	.	.	.	.	.	.	.	A	15.97	2.990128	0.54041	.	.	ENSG00000114942	ENST00000236957;ENST00000392221;ENST00000392222	.	.	.	5.24	5.24	0.73138	Translation elongation factor EF1B/ribosomal protein S6 (1);Translation elongation factor EF1B, beta/delta subunit, guanine nucleotide exchange (3);	0.071117	0.85682	D	0.000000	T	0.54902	0.1887	L	0.39245	1.2	0.80722	D	1	B	0.02656	0.0	B	0.20384	0.029	T	0.50651	-0.8803	9	0.33940	T	0.23	-16.9302	15.1403	0.72607	1.0:0.0:0.0:0.0	.	155	P24534	EF1B_HUMAN	L	155	.	ENSP00000236957:M155L	M	+	1	0	EEF1B2	206735523	1.000000	0.71417	0.994000	0.49952	0.958000	0.62258	9.237000	0.95368	1.984000	0.57885	0.533000	0.62120	ATG		0.388	EEF1B2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336436.1	NM_001037663		T	207027278	A	T	207027278	3	4	758	1	0	0	0	0	1	0	0	0	4927	449	16	5	481	5	EEF1B2	2	207027278	Missense_Mutation	SNP	A	TCGA-KV-A6GD-01A-11D-A31X-10	9149034	207027278	36172095	13	44712											
RAB17	64284	hgsc.bcm.edu	37	2	238494741	238494741	+	Silent	SNP	C	C	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr2:238494741C>A	ENST00000264601.3	-	2	686	c.57G>T	c.(55-57)gtG>gtT	p.V19V	RAB17_ENST00000538644.1_5'UTR|RAB17_ENST00000409576.1_Intron|RAB17_ENST00000409822.1_Intron|RAB17_ENST00000416106.1_5'UTR	NM_022449.3	NP_071894.1	Q9H0T7	RAB17_HUMAN	RAB17, member RAS oncogene family	19			V -> A (in dbSNP:rs3751112). {ECO:0000269|Ref.3}.		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)		CCAGCTTGAACACACGGGGCT	0.597																																					Colon(56;987 1029 6466 13943 27336)											0													57	57	57					2																	238494741		2203	4300	6503	SO:0001819	synonymous_variant	64284			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.57G>T	chr2.hg19:g.238494741C>A			Q53QV6|Q6IA73|Q6PJZ0|Q9BVU1|Q9H9U9	Silent	SNP	ENST00000264601.3	hg19	CCDS2520.1	.	.	.	.	.	.	.	.	.	.	C	6.279	0.419620	0.11928	.	.	ENSG00000124839	ENST00000430445	.	.	.	4.69	-3.2	0.05156	.	.	.	.	.	T	0.49029	0.1533	.	.	.	0.58432	D	0.999991	.	.	.	.	.	.	T	0.40515	-0.9559	4	.	.	.	-6.0609	5.8207	0.18526	0.0869:0.4881:0.2678:0.1572	.	.	.	.	F	1	.	.	C	-	2	0	RAB17	238159480	0.001000	0.12720	0.004000	0.12327	0.070000	0.16714	-0.140000	0.10342	-0.948000	0.03668	-1.094000	0.02160	TGT		0.597	RAB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257084.2			A	238494741	C	A	238494741	2	1	758	1	0	0	0	0	0	0	0	1	12908	465	17	4		4	RAB17	2	238494741	Silent	SNP	C	TCGA-KV-A6GD-01A-11D-A31X-10	31467463	238494741	4704632	14	44713											
SLC6A6	6533	hgsc.bcm.edu	37	3	14508107	14508107	+	Silent	SNP	A	A	G			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr3:14508107A>G	ENST00000454876.2	+	7	1145	c.816A>G	c.(814-816)gcA>gcG	p.A272A	SLC6A6_ENST00000360861.3_Silent_p.A272A			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	272				A -> R (in Ref. 1; CAA79481). {ECO:0000305}.	amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|taurine transport (GO:0015734)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|taurine binding (GO:0030977)|taurine:sodium symporter activity (GO:0005369)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						GCGCGGGCGCAGGCATCAAGT	0.632																																																0													80	70	73					3																	14508107		2203	4300	6503	SO:0001819	synonymous_variant	6533				CCDS33705.1, CCDS46765.1	3p25.1	2013-07-19	2013-07-19		ENSG00000131389	ENSG00000131389		"Solute carriers"	11052	protein-coding gene	gene with protein product	"taurine transporter"	186854	"solute carrier family 6 (neurotransmitter transporter, taurine), member 6"			8010975, 8382624	Standard	XM_006713307		Approved	TAUT	uc010heg.4	P31641	OTTHUMG00000155525	ENST00000454876.2:c.816A>G	chr3.hg19:g.14508107A>G			B2RNU7|Q9BRI2|Q9BXB0	Silent	SNP	ENST00000454876.2	hg19	CCDS33705.1																																																																																				0.632	SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340507.1	NM_003043		G	14508107	A	G	14508107	2	3	758	1	0	0	0	0	0	0	0	1	14694	175	7	3		3	SLC6A6	3	14508107	Silent	SNP	A	TCGA-KV-A6GD-01A-11D-A31X-10		14508107	183514323	15	44714											
TMEM115	11070	hgsc.bcm.edu	37	3	50396218	50396218	+	Missense_Mutation	SNP	A	A	G			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr3:50396218A>G	ENST00000266025.3	-	1	823	c.277T>C	c.(277-279)Tgg>Cgg	p.W93R	XXcos-LUCA11.5_ENST00000606589.1_Intron	NM_007024.4	NP_008955.1	Q12893	TM115_HUMAN	transmembrane protein 115	93					negative regulation of cell proliferation (GO:0008285)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(1)|lung(1)|prostate(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		AAGGCCCCCCAGAGGGGCTCC	0.622																																																0													55	68	64					3																	50396218		2203	4300	6503	SO:0001583	missense	11070			BC011948	CCDS2828.1	3p21.31	2008-11-04			ENSG00000126062	ENSG00000126062			30055	protein-coding gene	gene with protein product	"placental protein 6"	607069				11085536	Standard	NM_007024		Approved	PL6	uc003dan.1	Q12893	OTTHUMG00000044212	ENST00000266025.3:c.277T>C	chr3.hg19:g.50396218A>G	ENSP00000266025:p.Trp93Arg		A2IDB7|O14568|Q6IAY4|Q9UIX3	Missense_Mutation	SNP	ENST00000266025.3	hg19	CCDS2828.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.371161	0.82573	.	.	ENSG00000126062	ENST00000266025	T	0.11712	2.75	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.39682	0.1087	M	0.89414	3.03	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.46555	-0.9183	10	0.87932	D	0	.	14.4388	0.67301	1.0:0.0:0.0:0.0	.	93	Q12893	TM115_HUMAN	R	93	ENSP00000266025:W93R	ENSP00000266025:W93R	W	-	1	0	TMEM115	50371222	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	8.943000	0.92975	2.110000	0.64415	0.460000	0.39030	TGG		0.622	TMEM115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102784.3	NM_007024		G	50396218	A	G	50396218	3	3	758	1	0	0	0	0	1	0	0	0	16034	188	7	3	786	3	TMEM115	3	50396218	Missense_Mutation	SNP	A	TCGA-KV-A6GD-01A-11D-A31X-10	35888111	50396218	147626212	16	44715											
P2RY1	5028	hgsc.bcm.edu	37	3	152554007	152554007	+	Missense_Mutation	SNP	A	A	G			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr3:152554007A>G	ENST00000305097.3	+	1	1272	c.436A>G	c.(436-438)Agt>Ggt	p.S146G		NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	146					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|aging (GO:0007568)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell surface receptor signaling pathway (GO:0007166)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of binding (GO:0051100)|negative regulation of norepinephrine secretion (GO:0010700)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of hormone secretion (GO:0046887)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of ion transport (GO:0043270)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to plasma membrane (GO:0072659)|regulation of receptor activity (GO:0010469)|regulation of vasodilation (GO:0042312)|relaxation of muscle (GO:0090075)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)|signal transduction involved in regulation of gene expression (GO:0023019)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ADP binding (GO:0043531)|ADP-activated nucleotide receptor activity (GO:0045032)|ATP binding (GO:0005524)|ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			GACATGCATCAGTGCCCACCG	0.507																																																0													91	79	83					3																	152554007		2203	4300	6503	SO:0001583	missense	5028			U42029	CCDS3169.1	3q25.2	2012-08-08			ENSG00000169860	ENSG00000169860		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	8539	protein-coding gene	gene with protein product		601167				8579591	Standard	NM_002563		Approved	P2Y1	uc003ezq.3	P47900	OTTHUMG00000159694	ENST00000305097.3:c.436A>G	chr3.hg19:g.152554007A>G	ENSP00000304767:p.Ser146Gly			Missense_Mutation	SNP	ENST00000305097.3	hg19	CCDS3169.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.164790	0.78339	.	.	ENSG00000169860	ENST00000305097	T	0.80994	-1.44	5.76	5.76	0.90799	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.90844	0.7124	M	0.92122	3.275	0.58432	D	0.999999	D	0.63046	0.992	P	0.60012	0.867	D	0.92885	0.6326	10	0.72032	D	0.01	.	15.2728	0.73717	1.0:0.0:0.0:0.0	.	146	P47900	P2RY1_HUMAN	G	146	ENSP00000304767:S146G	ENSP00000304767:S146G	S	+	1	0	P2RY1	154036697	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	9.210000	0.95106	2.186000	0.69663	0.533000	0.62120	AGT		0.507	P2RY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356943.1	NM_002563		G	152554007	A	G	152554007	3	3	758	1	0	0	0	0	1	0	0	0	11348	188	7	3	438	3	P2RY1	3	152554007	Missense_Mutation	SNP	A	TCGA-KV-A6GD-01A-11D-A31X-10	102157789	152554007	45468423	17	44716											
FGFR3	2261	hgsc.bcm.edu	37	4	1807653	1807653	+	Missense_Mutation	SNP	T	T	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr4:1807653T>A	ENST00000260795.2	+	12	1924	c.1822T>A	c.(1822-1824)Ttg>Atg	p.L608M	FGFR3_ENST00000481110.2_Missense_Mutation_p.L609M|FGFR3_ENST00000412135.2_Missense_Mutation_p.L496M|FGFR3_ENST00000352904.1_Missense_Mutation_p.L496M|FGFR3_ENST00000340107.4_Missense_Mutation_p.L610M|FGFR3_ENST00000440486.2_Missense_Mutation_p.L608M			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	608	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|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)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	CATGGAGTACTTGGCCTCCCA	0.662		1	"Mis, T"	"IGH@, ETV6"	"bladder, MM, T-cell lymphoma"		"Hypochondroplasia, Thanatophoric dysplasia"		Saethre-Chotzen syndrome;Muenke syndrome																														Dom	yes		4	4p16.3	2261	fibroblast growth factor receptor 3	yes	"L, E"	0													39	47	44					4																	1807653		2203	4299	6502	SO:0001583	missense	2261	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3690	protein-coding gene	gene with protein product		134934	"achondroplasia, thanatophoric dwarfism"	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.1822T>A	chr4.hg19:g.1807653T>A	ENSP00000260795:p.Leu608Met		D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Missense_Mutation	SNP	ENST00000260795.2	hg19	CCDS3353.1	.	.	.	.	.	.	.	.	.	.	c	11.98	1.799537	0.31869	.	.	ENSG00000068078	ENST00000481110;ENST00000340107;ENST00000440486;ENST00000412135;ENST00000260795;ENST00000352904	D;D;D;D;D;D	0.92446	-3.04;-3.04;-3.04;-3.04;-3.04;-3.04	4.18	1.33	0.21861	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	D	0.95586	0.8565	M	0.86805	2.84	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.996;0.999;0.998;0.991	D	0.94568	0.7768	10	0.87932	D	0	.	10.2771	0.43517	0.0:0.681:0.0:0.319	.	610;496;608;609	P22607-2;P22607-3;P22607;F8W9L4	.;.;FGFR3_HUMAN;.	M	609;610;608;496;608;496	ENSP00000420533:L609M;ENSP00000339824:L610M;ENSP00000414914:L608M;ENSP00000412903:L496M;ENSP00000260795:L608M;ENSP00000231803:L496M	ENSP00000260795:L608M	L	+	1	2	FGFR3	1777451	0.995000	0.38212	0.995000	0.50966	0.390000	0.30446	0.568000	0.23623	0.311000	0.23014	-1.193000	0.01689	TTG		0.662	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2	NM_000142		A	1807653	T	A	1807653	3	1	758	1	0	0	0	0	1	0	0	0	5869	1606	56	5	2023	5	FGFR3	4	1807653	Missense_Mutation	SNP	T	TCGA-KV-A6GD-01A-11D-A31X-10		1807653	189346623	18	44717											
SLC4A4	8671	hgsc.bcm.edu	37	4	72413388	72413388	+	Missense_Mutation	SNP	T	T	C			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr4:72413388T>C	ENST00000264485.5	+	20	2762	c.2645T>C	c.(2644-2646)cTt>cCt	p.L882P	SLC4A4_ENST00000351898.6_Intron|SLC4A4_ENST00000340595.3_Missense_Mutation_p.L838P|SLC4A4_ENST00000425175.1_Missense_Mutation_p.L882P	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	882					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	ACTGGAACCCTTGTGTTTATT	0.373																																																0													217	212	214					4																	72413388		2203	4300	6503	SO:0001583	missense	8671			AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"Solute carriers"	11030	protein-coding gene	gene with protein product		603345	"solute carrier family 4, sodium bicarbonate cotransporter, member 4"	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.2645T>C	chr4.hg19:g.72413388T>C	ENSP00000264485:p.Leu882Pro		C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	ENST00000264485.5	hg19	CCDS43236.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.277920	0.80692	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000340595	D;D;D	0.82167	-1.58;-1.58;-1.58	5.81	5.81	0.92471	Bicarbonate transporter, C-terminal (1);	0.329506	0.33980	N	0.004364	D	0.87661	0.6233	M	0.80183	2.485	0.80722	D	1	P;P;B	0.40230	0.708;0.481;0.242	P;B;B	0.46208	0.507;0.419;0.427	D	0.89124	0.3505	10	0.87932	D	0	.	16.167	0.81768	0.0:0.0:0.0:1.0	.	882;838;882	A5JJ20;Q9Y6R1-2;Q9Y6R1	.;.;S4A4_HUMAN	P	882;882;838	ENSP00000264485:L882P;ENSP00000393557:L882P;ENSP00000344272:L838P	ENSP00000264485:L882P	L	+	2	0	SLC4A4	72632252	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.184000	0.72008	2.210000	0.71456	0.533000	0.62120	CTT		0.373	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		C	72413388	T	C	72413388	3	2	758	1	0	0	0	0	1	0	0	0	14662	1609	56	3	2840	3	SLC4A4	4	72413388	Missense_Mutation	SNP	T	TCGA-KV-A6GD-01A-11D-A31X-10	70605735	72413388	118740888	19	44718											
ISL1	3670	hgsc.bcm.edu	37	5	50680410	50680410	+	Missense_Mutation	SNP	A	A	G			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr5:50680410A>G	ENST00000230658.7	+	2	649	c.64A>G	c.(64-66)Aat>Gat	p.N22D	ISL1_ENST00000511384.1_Missense_Mutation_p.N22D|CTD-2314G24.2_ENST00000559112.2_RNA	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	22	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				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)				TGGTTGCGGCAATCAGATTCA	0.393																																																0													141	131	134					5																	50680410		1856	4100	5956	SO:0001583	missense	3670			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.64A>G	chr5.hg19:g.50680410A>G	ENSP00000230658:p.Asn22Asp		P20663|P47894	Missense_Mutation	SNP	ENST00000230658.7	hg19	CCDS43314.1	.	.	.	.	.	.	.	.	.	.	A	14.93	2.682347	0.47991	.	.	ENSG00000016082	ENST00000230658;ENST00000503187;ENST00000511384	D;D	0.87029	-2.2;-2.2	6.16	6.16	0.99307	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	T	0.79040	0.4379	N	0.13098	0.295	0.58432	D	0.999993	P	0.36183	0.542	B	0.36030	0.216	T	0.78427	-0.2208	10	0.31617	T	0.26	.	16.8061	0.85666	1.0:0.0:0.0:0.0	.	22	P61371	ISL1_HUMAN	D	22	ENSP00000230658:N22D;ENSP00000422676:N22D	ENSP00000230658:N22D	N	+	1	0	ISL1	50716167	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.543000	0.82106	2.367000	0.80283	0.528000	0.53228	AAT		0.393	ISL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368413.3	NM_002202		G	50680410	A	G	50680410	3	3	758	1	0	0	0	0	1	0	0	0	7858	130	5	3	70	3	ISL1	5	50680410	Missense_Mutation	SNP	A	TCGA-KV-A6GD-01A-11D-A31X-10		50680410	130234850	20	44719											
SEC24A	10802	hgsc.bcm.edu	37	5	134060676	134060676	+	Missense_Mutation	SNP	G	G	C			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr5:134060676G>C	ENST00000398844.2	+	23	3462	c.3174G>C	c.(3172-3174)gaG>gaC	p.E1058D		NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	1058					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of protein secretion (GO:0050714)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TAAGGGATGAGAGTCCAATGA	0.323																																																0													60	56	57					5																	134060676		1806	4068	5874	SO:0001583	missense	10802			AJ131244	CCDS43363.1, CCDS58967.1	5q31.1	2013-10-21	2013-10-21		ENSG00000113615	ENSG00000113615			10703	protein-coding gene	gene with protein product		607183	"SEC24 (S. cerevisiae) related gene family, member A", "SEC24 family, member A (S. cerevisiae)"			10075675, 10329445	Standard	NM_021982		Approved		uc003kzs.3	O95486	OTTHUMG00000163064	ENST00000398844.2:c.3174G>C	chr5.hg19:g.134060676G>C	ENSP00000381823:p.Glu1058Asp		A8MVW3|Q8WUV2|Q96GP7	Missense_Mutation	SNP	ENST00000398844.2	hg19	CCDS43363.1	.	.	.	.	.	.	.	.	.	.	G	7.791	0.711484	0.15239	.	.	ENSG00000113615	ENST00000398844	T	0.28666	1.6	5.68	5.68	0.88126	.	0.045285	0.85682	D	0.000000	T	0.11623	0.0283	N	0.04260	-0.245	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.29731	-1.0002	10	0.10902	T	0.67	-12.469	5.5239	0.16947	0.1812:0.1697:0.6491:0.0	.	822;1058	B4E205;O95486	.;SC24A_HUMAN	D	1058	ENSP00000381823:E1058D	ENSP00000381823:E1058D	E	+	3	2	SEC24A	134088575	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.734000	0.26101	2.691000	0.91804	0.650000	0.86243	GAG		0.323	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371563.1			C	134060676	G	C	134060676	3	2	758	1	0	0	0	0	1	0	0	0	14000	933	33	4	3264	4	SEC24A	5	134060676	Missense_Mutation	SNP	G	TCGA-KV-A6GD-01A-11D-A31X-10	83380266	134060676	46854584	21	44720											
HNRNPA0	10949	hgsc.bcm.edu	37	5	137088931	137088931	+	Silent	SNP	G	G	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr5:137088931G>A	ENST00000314940.4	-	1	1108	c.825C>T	c.(823-825)ggC>ggT	p.G275G		NM_006805.3	NP_006796.1	Q13151	ROA0_HUMAN	heterogeneous nuclear ribonucleoprotein A0	275	Gly-rich.				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)	p.G275G(1)		large_intestine(1)|lung(2)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			Tgcctccaccgccgccgccgc	0.632																																																1	Substitution - coding silent(1)	large_intestine(1)											9	13	11					5																	137088931		1925	3891	5816	SO:0001819	synonymous_variant	10949			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.825C>T	chr5.hg19:g.137088931G>A			Q6IB18	Silent	SNP	ENST00000314940.4	hg19	CCDS4193.1																																																																																				0.632	HNRNPA0-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251221.1	NM_006805		A	137088931	G	A	137088931	2	1	758	1	0	0	0	0	0	0	0	1	7258	1074	38	1		1	HNRNPA0	5	137088931	Silent	SNP	G	TCGA-KV-A6GD-01A-11D-A31X-10	3028255	137088931	43826329	22	44721											
C5orf41	153222	hgsc.bcm.edu	37	5	172518246	172518246	+	Missense_Mutation	SNP	A	A	T	rs374100928		TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr5:172518246A>T	ENST00000296953.2	+	4	1383	c.1064A>T	c.(1063-1065)gAa>gTa	p.E355V	CREBRF_ENST00000540014.1_Missense_Mutation_p.E355V|CREBRF_ENST00000520420.1_Missense_Mutation_p.E355V|CREBRF_ENST00000522692.1_Missense_Mutation_p.E355V	NM_153607.2	NP_705835.2	Q8IUR6	CRERF_HUMAN	CREB3 regulatory factor	355	Glu-rich.				negative regulation of endoplasmic reticulum unfolded protein response (GO:1900102)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular transport (GO:0032388)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein transport (GO:0051222)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TGCAGTCCtgaagaagatgag	0.443																																																0													63	50	54					5																	172518246		2203	4300	6503	SO:0001583	missense	153222			AY139008	CCDS34293.1, CCDS54948.1	5q35.2	2012-03-06	2012-03-06	2012-03-06	ENSG00000164463	ENSG00000164463			24050	protein-coding gene	gene with protein product	"luman/CREB3 recruitment factor"		"chromosome 5 open reading frame 41"	C5orf41		18391022	Standard	NM_153607		Approved	LRF	uc003mch.3	Q8IUR6	OTTHUMG00000163322	ENST00000296953.2:c.1064A>T	chr5.hg19:g.172518246A>T	ENSP00000296953:p.Glu355Val		B3DFH2|B3KW49|D3DQM2|F5GXN3|Q5HYG4|Q5HYK0|Q86YR3|Q8IZG1	Missense_Mutation	SNP	ENST00000296953.2	hg19	CCDS34293.1	.	.	.	.	.	.	.	.	.	.	A	17.18	3.323089	0.60634	.	.	ENSG00000164463	ENST00000522692;ENST00000296953;ENST00000540014;ENST00000520420;ENST00000538538;ENST00000393776	T;T;T;T	0.70749	-0.51;2.19;2.19;-0.51	5.52	5.52	0.82312	.	0.433677	0.23268	N	0.050045	T	0.75525	0.3861	N	0.24115	0.695	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.991;0.996	T	0.78703	-0.2101	10	0.66056	D	0.02	.	15.3153	0.74069	1.0:0.0:0.0:0.0	.	355;355	Q8IUR6;Q8IUR6-2	CE041_HUMAN;.	V	355	ENSP00000431107:E355V;ENSP00000296953:E355V;ENSP00000440075:E355V;ENSP00000428290:E355V	ENSP00000296953:E355V	E	+	2	0	C5orf41	172450852	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.297000	0.72757	2.103000	0.63969	0.533000	0.62120	GAA		0.443	CREBRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372667.1	NM_153607		T	172518246	A	T	172518246	3	4	758	1	0	0	0	0	1	0	0	0	2302	246	9	5	1074	5	C5orf41	5	172518246	Missense_Mutation	SNP	A	TCGA-KV-A6GD-01A-11D-A31X-10	35429315	172518246	8397014	23	44722											
SESN1	27244	hgsc.bcm.edu	37	6	109309823	109309823	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr6:109309823delT	ENST00000356644.7	-	9	1409	c.1315delA	c.(1315-1317)actfs	p.T439fs	SESN1_ENST00000302071.2_Frame_Shift_Del_p.T373fs|SESN1_ENST00000436639.2_Frame_Shift_Del_p.T498fs	NM_001199933.1	NP_001186862.1	Q9Y6P5	SESN1_HUMAN	sestrin 1	439					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of cell proliferation (GO:0008285)|regulation of protein kinase B signaling (GO:0051896)|regulation of response to reactive oxygen species (GO:1901031)	nucleus (GO:0005634)				cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)		CAAACAACAGTTTTGATATAA	0.343																																																0													83	75	77					6																	109309823		2203	4300	6503	SO:0001589	frameshift_variant	27244			AF033120	CCDS5070.1, CCDS56444.1, CCDS56445.1	6q21	2008-10-23			ENSG00000080546	ENSG00000080546			21595	protein-coding gene	gene with protein product		606103				9926927, 7938006	Standard	NM_014454		Approved	SEST1, PA26	uc003psu.3	Q9Y6P5	OTTHUMG00000015338	ENST00000356644.7:c.1315delA	chr6.hg19:g.109309823delT	ENSP00000349061:p.Thr439fs		Q2M2B7|Q5T316|Q9NV00|Q9UPD5|Q9Y6P6	Frame_Shift_Del	DEL	ENST00000356644.7	hg19	CCDS56445.1																																																																																				0.343	SESN1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041738.4	NM_014454		-	109309823	T	-	109309823	7	5	758	1	0	1	0	1	0	0	0	0	14130	1725	60	0	171	0	SESN1	6	109309823	Frame_Shift_Del	DEL	T	TCGA-KV-A6GD-01A-11D-A31X-10		109309823	61805244	24	44723											
HIVEP2	3097	hgsc.bcm.edu	37	6	143090738	143090738	+	Missense_Mutation	SNP	G	G	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr6:143090738G>T	ENST00000367604.1	-	4	5777	c.5138C>A	c.(5137-5139)cCt>cAt	p.P1713H	HIVEP2_ENST00000012134.2_Missense_Mutation_p.P1713H|HIVEP2_ENST00000367603.2_Missense_Mutation_p.P1713H			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1713					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)		GCCGGTTCCAGGCCTATGCAT	0.433																																					Esophageal Squamous(107;843 1510 13293 16805 42198)											0													118	109	112					6																	143090738		1861	4116	5977	SO:0001583	missense	3097			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.5138C>A	chr6.hg19:g.143090738G>T	ENSP00000356576:p.Pro1713His		Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	hg19	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.231189	0.58777	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.02863	4.13;4.13;4.13	5.95	4.11	0.48088	.	0.192613	0.56097	D	0.000024	T	0.04907	0.0132	M	0.72894	2.215	0.47407	D	0.999417	D	0.67145	0.996	P	0.58013	0.831	T	0.10019	-1.0648	10	0.87932	D	0	-17.5678	8.3283	0.32171	0.135:0.1282:0.7368:0.0	.	1713	P31629	ZEP2_HUMAN	H	1713	ENSP00000356576:P1713H;ENSP00000356575:P1713H;ENSP00000012134:P1713H	ENSP00000012134:P1713H	P	-	2	0	HIVEP2	143132431	1.000000	0.71417	0.975000	0.42487	0.991000	0.79684	6.728000	0.74769	1.514000	0.48869	0.655000	0.94253	CCT		0.433	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			T	143090738	G	T	143090738	3	4	758	1	0	0	0	0	1	0	0	0	7189	1000	35	4	2226	4	HIVEP2	6	143090738	Missense_Mutation	SNP	G	TCGA-KV-A6GD-01A-11D-A31X-10	33780915	143090738	28024329	25	44724											
EIF2AK1	27102	hgsc.bcm.edu	37	7	6084205	6084205	+	Missense_Mutation	SNP	T	T	G			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr7:6084205T>G	ENST00000199389.6	-	7	864	c.718A>C	c.(718-720)Att>Ctt	p.I240L	EIF2AK1_ENST00000495565.1_5'UTR|EIF2AK1_ENST00000536084.1_Missense_Mutation_p.I116L	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	240	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of cell proliferation (GO:0008285)|negative regulation of hemoglobin biosynthetic process (GO:0046986)|negative regulation of translational initiation by iron (GO:0045993)|protein autophosphorylation (GO:0046777)|protoporphyrinogen IX metabolic process (GO:0046501)|regulation of eIF2 alpha phosphorylation by heme (GO:0010999)|response to external stimulus (GO:0009605)|response to stress (GO:0006950)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		CGTGGCTGAATCACATGAACA	0.468																																																0													99	79	86					7																	6084205		2203	4300	6503	SO:0001583	missense	27102			BC006524	CCDS5345.1	7p22	2005-01-20			ENSG00000086232	ENSG00000086232			24921	protein-coding gene	gene with protein product	"heme regulated initiation factor 2 alpha kinase"	613635				7709427, 10718198	Standard	NM_014413		Approved	HRI, KIAA1369	uc003spp.3	Q9BQI3	OTTHUMG00000090689	ENST00000199389.6:c.718A>C	chr7.hg19:g.6084205T>G	ENSP00000199389:p.Ile240Leu		A8K2R2|Q549K6|Q8NBW3|Q9HC02|Q9NYE0|Q9P0V6|Q9P1J5|Q9P2H8|Q9UHG4	Missense_Mutation	SNP	ENST00000199389.6	hg19	CCDS5345.1	.	.	.	.	.	.	.	.	.	.	.	1.012	-0.687440	0.03328	.	.	ENSG00000086232	ENST00000199389;ENST00000536084	T;T	0.14144	2.53;2.53	5.2	2.36	0.29203	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.526065	0.21443	N	0.074457	T	0.06826	0.0174	N	0.17723	0.515	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.11329	0.006;0.002;0.002	T	0.42932	-0.9422	10	0.11485	T	0.65	-0.4159	5.4401	0.16504	0.0:0.4964:0.2696:0.234	.	116;240;240	B4DIP4;Q9BQI3-2;Q9BQI3	.;.;E2AK1_HUMAN	L	240;116	ENSP00000199389:I240L;ENSP00000445784:I116L	ENSP00000199389:I240L	I	-	1	0	EIF2AK1	6050731	0.000000	0.05858	0.062000	0.19696	0.277000	0.26821	-0.787000	0.04618	0.180000	0.19960	-0.248000	0.11899	ATT		0.468	EIF2AK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207373.2	NM_014413		G	6084205	T	G	6084205	3	3	758	1	0	0	0	0	1	0	0	0	4998	1435	50	5	1210	5	EIF2AK1	7	6084205	Missense_Mutation	SNP	T	TCGA-KV-A6GD-01A-11D-A31X-10		6084205	153054458	26	44725											
CLCN1	1180	hgsc.bcm.edu	37	7	143049049	143049049	+	Silent	SNP	G	G	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr7:143049049G>A	ENST00000343257.2	+	23	3045	c.2958G>A	c.(2956-2958)ctG>ctA	p.L986L		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	986					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|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)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					AGGATGAACTGATCCTTTGAC	0.617																																																0													85	83	84					7																	143049049		2203	4300	6503	SO:0001819	synonymous_variant	1180			Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"Ion channels / Chloride channels : Voltage-sensitive"	2019	protein-coding gene	gene with protein product	"Thomsen disease, autosomal dominant"	118425	"chloride channel 1, skeletal muscle"			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.2958G>A	chr7.hg19:g.143049049G>A			A4D2H5|Q2M202	Silent	SNP	ENST00000343257.2	hg19	CCDS5881.1																																																																																				0.617	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327420.1	NM_000083		A	143049049	G	A	143049049	2	1	758	1	0	0	0	0	0	0	0	1	3464	1277	45	2		2	CLCN1	7	143049049	Silent	SNP	G	TCGA-KV-A6GD-01A-11D-A31X-10	136964844	143049049	16089614	27	44726											
TRPM3	80036	hgsc.bcm.edu	37	9	73151135	73151136	+	Frame_Shift_Ins	INS	-	-	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr9:73151135_73151136insT	ENST00000377110.3	-	25	5100_5101	c.4857_4858insA	c.(4855-4860)tcagagfs	p.E1620fs	TRPM3_ENST00000423814.3_Frame_Shift_Ins_p.E1647fs|TRPM3_ENST00000377105.1_Frame_Shift_Ins_p.E1479fs|TRPM3_ENST00000396292.4_Frame_Shift_Ins_p.E1492fs|TRPM3_ENST00000358082.3_Frame_Shift_Ins_p.E1482fs|TRPM3_ENST00000408909.2_Frame_Shift_Ins_p.E1479fs|TRPM3_ENST00000396280.5_Frame_Shift_Ins_p.E1469fs|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000357533.2_Frame_Shift_Ins_p.E1624fs|TRPM3_ENST00000396285.1_Frame_Shift_Ins_p.E1479fs|TRPM3_ENST00000360823.2_Frame_Shift_Ins_p.E1482fs|TRPM3_ENST00000377106.1_Frame_Shift_Ins_p.E1492fs			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1645					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)			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						AGGGTTCTCTCTGAGTTATCAC	0.55																																																0																																										SO:0001589	frameshift_variant	80036			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	ENST00000377110.3:c.4858dupA	chr9.hg19:g.73151136_73151136dupT	ENSP00000366314:p.Glu1620fs		A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Frame_Shift_Ins	INS	ENST00000377110.3	hg19	CCDS43835.1																																																																																				0.55	TRPM3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214158.3	NM_206945		T	73151136	-	T	73151135	7	5	758	1	0	1	1	0	0	0	0	0	16592	922	32	0	269	0	TRPM3	9	73151135	Frame_Shift_Ins	INS	-	TCGA-KV-A6GD-01A-11D-A31X-10		73151135	68062296	28	44727											
CTSL1	1514	hgsc.bcm.edu	37	9	90344596	90344596	+	Missense_Mutation	SNP	C	C	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr9:90344596C>T	ENST00000343150.5	+	6	1620	c.730C>T	c.(730-732)Ccc>Tcc	p.P244S	CTSL_ENST00000340342.6_Missense_Mutation_p.P244S|CTSL_ENST00000495822.1_3'UTR			P07711	CATL1_HUMAN	cathepsin L	244					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|macrophage apoptotic process (GO:0071888)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|nucleus (GO:0005634)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|histone binding (GO:0042393)|proteoglycan binding (GO:0043394)										AACTGTGGGGCCCATTTCTGT	0.428																																																0													153	147	149					9																	90344596		2203	4300	6503	SO:0001583	missense	1514			X12451	CCDS6675.1	9q21.33	2013-06-27	2013-06-27	2013-06-27	ENSG00000135047	ENSG00000135047	3.4.22.15	"Cathepsins"	2537	protein-coding gene	gene with protein product		116880	"cathepsin L1"	CTSL1		8419312, 2835398	Standard	NM_145918		Approved	FLJ31037	uc004apk.4	P07711	OTTHUMG00000020149	ENST00000343150.5:c.730C>T	chr9.hg19:g.90344596C>T	ENSP00000345344:p.Pro244Ser		Q6IAV1|Q96QJ0	Missense_Mutation	SNP	ENST00000343150.5	hg19	CCDS6675.1	.	.	.	.	.	.	.	.	.	.	C	18.16	3.562005	0.65538	.	.	ENSG00000135047	ENST00000343150;ENST00000340342	T;T	0.58652	0.32;0.32	4.19	4.19	0.49359	Peptidase C1A, papain C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.86167	0.5868	H	0.99156	4.45	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92638	0.6122	10	0.87932	D	0	.	16.7092	0.85380	0.0:1.0:0.0:0.0	.	244	P07711	CATL1_HUMAN	S	244	ENSP00000345344:P244S;ENSP00000365061:P244S	ENSP00000365061:P244S	P	+	1	0	CTSL1	89534416	1.000000	0.71417	0.118000	0.21660	0.300000	0.27592	6.804000	0.75186	2.134000	0.65973	0.655000	0.94253	CCC		0.428	CTSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052936.1	NM_001912		T	90344596	C	T	90344596	3	4	758	1	0	0	0	0	1	0	0	0	4040	739	26	2	748	2	CTSL1	9	90344596	Missense_Mutation	SNP	C	TCGA-KV-A6GD-01A-11D-A31X-10	17193461	90344596	50868835	29	44728											
MASTL	84930	hgsc.bcm.edu	37	10	27456144	27456144	+	Missense_Mutation	SNP	T	T	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr10:27456144T>A	ENST00000375940.4	+	7	982	c.925T>A	c.(925-927)Ttc>Atc	p.F309I	MASTL_ENST00000375946.4_Missense_Mutation_p.F309I|MASTL_ENST00000342386.6_Missense_Mutation_p.F309I			Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	309	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of protein phosphatase type 2A activity (GO:0034048)|regulation of cell cycle (GO:0051726)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein phosphatase 2A binding (GO:0051721)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATCCCACACCTTCATATCCAG	0.438																																																0													98	94	95					10																	27456144		2203	4300	6503	SO:0001583	missense	84930			BC009107	CCDS7153.1, CCDS53502.1, CCDS53503.1	10p12.1	2005-11-03			ENSG00000120539	ENSG00000120539			19042	protein-coding gene	gene with protein product		608221					Standard	NM_001172303		Approved	FLJ14813, THC2	uc001itm.3	Q96GX5	OTTHUMG00000017855	ENST00000375940.4:c.925T>A	chr10.hg19:g.27456144T>A	ENSP00000365107:p.Phe309Ile		Q5T8D5|Q5T8D7|Q8NCD6|Q96SJ5	Missense_Mutation	SNP	ENST00000375940.4	hg19	CCDS53502.1	.	.	.	.	.	.	.	.	.	.	T	19.40	3.821148	0.71028	.	.	ENSG00000120539	ENST00000375946;ENST00000342386;ENST00000375940	T;T;T	0.66280	-0.1;-0.2;-0.09	6.16	6.16	0.99307	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.182060	0.49305	D	0.000145	T	0.69415	0.3108	M	0.67953	2.075	0.09310	N	1	D;P;D	0.60575	0.96;0.932;0.988	P;B;P	0.55455	0.579;0.397;0.776	T	0.64698	-0.6346	10	0.29301	T	0.29	-21.7995	10.7305	0.46093	0.0:0.1106:0.0:0.8894	.	309;309;309	Q96GX5-2;Q96GX5;Q96GX5-3	.;GWL_HUMAN;.	I	309	ENSP00000365113:F309I;ENSP00000343446:F309I;ENSP00000365107:F309I	ENSP00000343446:F309I	F	+	1	0	MASTL	27496150	0.046000	0.20272	0.950000	0.38849	0.998000	0.95712	0.873000	0.28052	2.367000	0.80283	0.528000	0.53228	TTC		0.438	MASTL-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047320.1	NM_032844		A	27456144	T	A	27456144	3	1	758	1	0	0	0	0	1	0	0	0	9330	1609	56	5	951	5	MASTL	10	27456144	Missense_Mutation	SNP	T	TCGA-KV-A6GD-01A-11D-A31X-10		27456144	108078603	30	44729											
IFIT5	24138	hgsc.bcm.edu	37	10	91177012	91177012	+	Missense_Mutation	SNP	A	A	G			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr10:91177012A>G	ENST00000371795.4	+	2	269	c.56A>G	c.(55-57)cAt>cGt	p.H19R	IFIT5_ENST00000416601.1_Missense_Mutation_p.H19R|LIPA_ENST00000371837.1_5'Flank	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5	19					defense response to virus (GO:0051607)|innate immune response (GO:0045087)	actin cytoskeleton (GO:0015629)|apical part of cell (GO:0045177)|ruffle membrane (GO:0032587)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)|tRNA binding (GO:0000049)			endometrium(1)|large_intestine(4)|lung(4)	9						TTAGAATGTCATTTTACATGG	0.318																																																0													69	71	70					10																	91177012		2203	4300	6503	SO:0001583	missense	24138			U34605	CCDS7403.1	10q23.31	2013-01-10			ENSG00000152778	ENSG00000152778		"Tetratricopeptide (TTC) repeat domain containing"	13328	protein-coding gene	gene with protein product	"retinoic acid- and interferon-inducible protein (58kD)"					9398535	Standard	NM_012420		Approved	RI58	uc010qnh.2	Q13325	OTTHUMG00000018713	ENST00000371795.4:c.56A>G	chr10.hg19:g.91177012A>G	ENSP00000360860:p.His19Arg		B2R5X9|B4DDV1|Q5T7I9|Q6IAX3	Missense_Mutation	SNP	ENST00000371795.4	hg19	CCDS7403.1	.	.	.	.	.	.	.	.	.	.	A	19.78	3.890598	0.72524	.	.	ENSG00000152778	ENST00000371795;ENST00000416601	T;T	0.60797	0.16;0.16	6.16	6.16	0.99307	.	0.045911	0.85682	D	0.000000	T	0.77253	0.4103	M	0.80847	2.515	0.53688	D	0.999979	D;D	0.89917	1.0;1.0	D;D	0.71414	0.973;0.973	T	0.80284	-0.1447	10	0.87932	D	0	-13.583	15.9872	0.80168	1.0:0.0:0.0:0.0	.	19;19	Q13325;B4DDV1	IFIT5_HUMAN;.	R	19	ENSP00000360860:H19R;ENSP00000414042:H19R	ENSP00000360860:H19R	H	+	2	0	IFIT5	91166992	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.666000	0.68059	2.367000	0.80283	0.528000	0.53228	CAT		0.318	IFIT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049303.1	NM_012420		G	91177012	A	G	91177012	3	3	758	1	0	0	0	0	1	0	0	0	7527	217	8	3	62	3	IFIT5	10	91177012	Missense_Mutation	SNP	A	TCGA-KV-A6GD-01A-11D-A31X-10	63720868	91177012	44357735	31	44730											
USH1C	10083	hgsc.bcm.edu	37	11	17542471	17542471	+	Missense_Mutation	SNP	A	A	C			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr11:17542471A>C	ENST00000318024.4	-	14	1264	c.1156T>G	c.(1156-1158)Ttg>Gtg	p.L386V	USH1C_ENST00000005226.7_Missense_Mutation_p.L386V|USH1C_ENST00000527020.1_Missense_Mutation_p.L367V|USH1C_ENST00000527720.1_Missense_Mutation_p.L355V	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	386					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						GTTTTAGGCAAGAGTAGCTGT	0.488																																																0													457	438	444					11																	17542471		2200	4293	6493	SO:0001583	missense	10083			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.1156T>G	chr11.hg19:g.17542471A>C	ENSP00000317018:p.Leu386Val		A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Missense_Mutation	SNP	ENST00000318024.4	hg19	CCDS31438.1	.	.	.	.	.	.	.	.	.	.	A	9.184	1.024225	0.19433	.	.	ENSG00000006611	ENST00000318024;ENST00000527720;ENST00000527020;ENST00000005226	T;T;T;T	0.63913	1.77;1.77;2.01;-0.07	5.7	-8.8	0.00817	.	0.781295	0.12318	N	0.479554	T	0.26159	0.0638	N	0.08118	0	0.09310	N	1	B;B;B	0.14438	0.01;0.006;0.0	B;B;B	0.15870	0.014;0.006;0.001	T	0.28554	-1.0040	10	0.11485	T	0.65	.	3.9214	0.09245	0.2554:0.0946:0.4467:0.2034	.	367;386;386	Q9Y6N9-4;Q9Y6N9;Q7RTU8	.;USH1C_HUMAN;.	V	386;355;367;386	ENSP00000317018:L386V;ENSP00000432944:L355V;ENSP00000436934:L367V;ENSP00000005226:L386V	ENSP00000005226:L386V	L	-	1	2	USH1C	17499047	0.000000	0.05858	0.002000	0.10522	0.642000	0.38348	-1.114000	0.03293	-1.238000	0.02535	-1.039000	0.02377	TTG		0.488	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389146.1	NM_005709		C	17542471	A	C	17542471	3	2	758	1	0	0	0	0	1	0	0	0	17039	69	3	5	1677	5	USH1C	11	17542471	Missense_Mutation	SNP	A	TCGA-KV-A6GD-01A-11D-A31X-10		17542471	117464045	32	44731											
OR5M3	219482	hgsc.bcm.edu	37	11	56237348	56237348	+	Missense_Mutation	SNP	A	A	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr11:56237348A>T	ENST00000312240.2	-	1	666	c.626T>A	c.(625-627)cTg>cAg	p.L209Q		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	209						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)					AATTACAGTCAGGGAATATGT	0.438																																																0													111	109	110					11																	56237348		2201	4296	6497	SO:0001583	missense	219482			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.626T>A	chr11.hg19:g.56237348A>T	ENSP00000312208:p.Leu209Gln		B2RNM7|Q6IEW4|Q96RC0	Missense_Mutation	SNP	ENST00000312240.2	hg19	CCDS31532.1	.	.	.	.	.	.	.	.	.	.	A	7.810	0.715500	0.15306	.	.	ENSG00000174937	ENST00000312240	T	0.49432	0.78	5.08	5.08	0.68730	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33854	N	0.004500	T	0.71753	0.3377	H	0.97240	3.965	0.09310	N	1	B	0.19445	0.036	B	0.40038	0.317	T	0.68884	-0.5291	10	0.72032	D	0.01	-8.3442	12.8019	0.57591	1.0:0.0:0.0:0.0	.	209	Q8NGP4	OR5M3_HUMAN	Q	209	ENSP00000312208:L209Q	ENSP00000312208:L209Q	L	-	2	0	OR5M3	55993924	0.207000	0.23482	0.002000	0.10522	0.005000	0.04900	4.573000	0.60893	1.897000	0.54924	0.448000	0.29417	CTG		0.438	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391639.1	NM_001004742		T	56237348	A	T	56237348	3	4	758	1	0	0	0	0	1	0	0	0	11177	188	7	5	299	5	OR5M3	11	56237348	Missense_Mutation	SNP	A	TCGA-KV-A6GD-01A-11D-A31X-10	38694877	56237348	78769168	33	44732	474	2									
OR5M3	219482	hgsc.bcm.edu	37	11	56237358	56237358	+	Missense_Mutation	SNP	T	T	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr11:56237358T>A	ENST00000312240.2	-	1	656	c.616A>T	c.(616-618)Aca>Tca	p.T206S		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	206						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)					AGGGAATATGTGAAGTTAATG	0.428																																																0													120	118	119					11																	56237358		2201	4296	6497	SO:0001583	missense	219482			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.616A>T	chr11.hg19:g.56237358T>A	ENSP00000312208:p.Thr206Ser		B2RNM7|Q6IEW4|Q96RC0	Missense_Mutation	SNP	ENST00000312240.2	hg19	CCDS31532.1	.	.	.	.	.	.	.	.	.	.	T	3.617	-0.078287	0.07184	.	.	ENSG00000174937	ENST00000312240	T	0.37058	1.22	5.08	-0.403	0.12400	GPCR, rhodopsin-like superfamily (1);	0.993240	0.08161	N	0.988433	T	0.16981	0.0408	N	0.11255	0.115	0.09310	N	1	B	0.14012	0.009	B	0.23150	0.044	T	0.31194	-0.9952	10	0.22706	T	0.39	-3.9091	3.5764	0.07936	0.2773:0.1679:0.0:0.5548	.	206	Q8NGP4	OR5M3_HUMAN	S	206	ENSP00000312208:T206S	ENSP00000312208:T206S	T	-	1	0	OR5M3	55993934	0.000000	0.05858	0.552000	0.28243	0.327000	0.28475	-0.845000	0.04340	0.248000	0.21435	0.448000	0.29417	ACA		0.428	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391639.1	NM_001004742		A	56237358	T	A	56237358	3	1	758	1	0	0	0	0	1	0	0	0	11177	1696	59	5	309	5	OR5M3	11	56237358	Missense_Mutation	SNP	T	TCGA-KV-A6GD-01A-11D-A31X-10	10	56237358	78769158	34	44733	474	2									
SSRP1	6749	hgsc.bcm.edu	37	11	57100282	57100282	+	Silent	SNP	C	C	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr11:57100282C>A	ENST00000278412.2	-	6	851	c.585G>T	c.(583-585)acG>acT	p.T195T		NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	195					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						TGGCATCTCCCGTGGCCTGGA	0.562																																					Colon(89;1000 1340 6884 23013 41819)											0													65	63	64					11																	57100282		2201	4296	6497	SO:0001819	synonymous_variant	6749			M86737	CCDS7952.1	11q12	2008-02-05			ENSG00000149136	ENSG00000149136			11327	protein-coding gene	gene with protein product	"facilitates chromatin remodeling 80 kDa subunit"	604328				1372440	Standard	NM_003146		Approved	FACT80	uc001njt.3	Q08945	OTTHUMG00000167024	ENST00000278412.2:c.585G>T	chr11.hg19:g.57100282C>A			Q5BJG8	Silent	SNP	ENST00000278412.2	hg19	CCDS7952.1																																																																																				0.562	SSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392460.1	NM_003146		A	57100282	C	A	57100282	2	1	758	1	0	0	0	0	0	0	0	1	15199	639	23	4		4	SSRP1	11	57100282	Silent	SNP	C	TCGA-KV-A6GD-01A-11D-A31X-10	862924	57100282	77906234	35	44734											
SYVN1	84447	hgsc.bcm.edu	37	11	64900251	64900251	+	Splice_Site	DEL	T	T	-			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr11:64900251delT	ENST00000377190.3	-	5	473	c.379delA	c.(379-381)atg>tg	p.M127fs	SYVN1_ENST00000526060.1_Splice_Site_p.M127fs|SYVN1_ENST00000526121.1_5'Flank|SYVN1_ENST00000307289.6_Intron|SYVN1_ENST00000294256.8_Splice_Site_p.M127fs	NM_172230.2	NP_757385.1	Q86TM6	SYVN1_HUMAN	synovial apoptosis inhibitor 1, synoviolin	127					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-associated ubiquitin-dependent protein catabolic process (GO:0030433)|in utero embryonic development (GO:0001701)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						CTGCGTTCCATCTGAGGCAGA	0.612																																																0													97	97	97					11																	64900251		2201	4297	6498	SO:0001630	splice_region_variant	84447			AB085847	CCDS8097.1, CCDS31605.1	11q13	2013-01-09			ENSG00000162298	ENSG00000162298		"RING-type (C3HC4) zinc fingers"	20738	protein-coding gene	gene with protein product	"HMG-coA reductase degradation 1 homolog (S. cerevisiae)"	608046				12975321	Standard	NM_032431		Approved	HRD1, DER3	uc001odb.3	Q86TM6		ENST00000377190.3:c.379-1A>-	chr11.hg19:g.64900251delT			Q8N3K3|Q8N6E8|Q96JL5|Q96PK3	Frame_Shift_Del	DEL	ENST00000377190.3	hg19	CCDS31605.1																																																																																				0.612	SYVN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385274.1	NM_032431	Frame_Shift_Del	-	64900251	T	-	64900251	8	5	758	1	0	1	0	1	0	0	1	0	15492	1449	50	0	1522	0	SYVN1	11	64900251	Splice_Site	DEL	T	TCGA-KV-A6GD-01A-11D-A31X-10	7799969	64900251	70106265	36	44735											
FRMD8	83786	hgsc.bcm.edu	37	11	65168213	65168213	+	Missense_Mutation	SNP	C	C	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr11:65168213C>T	ENST00000317568.5	+	9	1109	c.946C>T	c.(946-948)Cgc>Tgc	p.R316C	FRMD8_ENST00000355991.5_Missense_Mutation_p.R260C|FRMD8_ENST00000416776.2_Missense_Mutation_p.R282C	NM_031904.3	NP_114110.1	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	316	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoskeleton (GO:0005856)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1)	17						GCTGGGCCTGCGCTTCCAGGA	0.657																																																0													48	38	41					11																	65168213		2201	4296	6497	SO:0001583	missense	83786			AK074850	CCDS8102.1, CCDS73320.1	11q13.1	2007-08-14			ENSG00000126391	ENSG00000126391			25462	protein-coding gene	gene with protein product						12477932	Standard	NM_031904		Approved	FLJ90369, FKSG44	uc001odu.4	Q9BZ67	OTTHUMG00000166275	ENST00000317568.5:c.946C>T	chr11.hg19:g.65168213C>T	ENSP00000319726:p.Arg316Cys		B4E2P1|Q86V56|Q8NCB5	Missense_Mutation	SNP	ENST00000317568.5	hg19	CCDS8102.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.609302	0.46527	.	.	ENSG00000126391	ENST00000317568;ENST00000355991;ENST00000416776	D;T;D	0.84223	-1.81;-1.22;-1.82	4.49	3.56	0.40772	FERM domain (1);	0.572355	0.18795	N	0.130960	D	0.84813	0.5555	.	.	.	0.48452	D	0.999659	B;B;D	0.71674	0.041;0.175;0.998	B;B;P	0.48654	0.01;0.028;0.585	D	0.83999	0.0342	9	0.56958	D	0.05	-14.6802	9.9641	0.41715	0.3682:0.6317:0.0:0.0	.	282;260;316	B4E2P1;Q9BZ67-2;Q9BZ67	.;.;FRMD8_HUMAN	C	316;260;282	ENSP00000319726:R316C;ENSP00000348270:R260C;ENSP00000392111:R282C	ENSP00000319726:R316C	R	+	1	0	FRMD8	64924789	0.940000	0.31905	1.000000	0.80357	0.991000	0.79684	1.023000	0.30065	0.998000	0.38996	0.549000	0.68633	CGC		0.657	FRMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388833.1	NM_031904		T	65168213	C	T	65168213	3	4	758	1	0	0	0	0	1	0	0	0	6058	768	27	1	976	1	FRMD8	11	65168213	Missense_Mutation	SNP	C	TCGA-KV-A6GD-01A-11D-A31X-10	267962	65168213	69838303	37	44736											
MUS81	80198	hgsc.bcm.edu	37	11	65631192	65631192	+	Splice_Site	SNP	G	G	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr11:65631192G>A	ENST00000308110.4	+	9	1310	c.961G>A	c.(961-963)Gca>Aca	p.A321T	EFEMP2_ENST00000532648.1_5'Flank|MUS81_ENST00000533035.1_Splice_Site_p.A246T|CFL1_ENST00000534769.1_5'Flank	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	321	ERCC4.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	intercellular bridge (GO:0045171)|nucleus (GO:0005634)	3'-flap endonuclease activity (GO:0048257)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		TAGAGACCCAGGTGAAGGGCC	0.637								Homologous recombination																																								0													59	64	63					11																	65631192		2201	4296	6497	SO:0001630	splice_region_variant	80198				CCDS8115.1	11q13	2013-07-03	2013-07-03			ENSG00000172732			29814	protein-coding gene	gene with protein product	"SLX3 structure-specific endonuclease subunit homolog (S. cerevisiae)"	606591	"MUS81 endonuclease homolog (yeast)", "MUS81 endonuclease homolog (S. cerevisiae)"			11741546, 12374758	Standard	NM_025128		Approved	FLJ44872, SLX3	uc001ofv.4	Q96NY9		ENST00000308110.4:c.961+1G>A	chr11.hg19:g.65631192G>A			Q9H7D9	Missense_Mutation	SNP	ENST00000308110.4	hg19	CCDS8115.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.03|11.03	1.519664|1.519664	0.27211|0.27211	.|.	.|.	ENSG00000172732|ENSG00000172732	ENST00000533035;ENST00000308110;ENST00000437855|ENST00000529374	T;T|.	0.22945|.	1.93;1.93|.	5.14|5.14	3.2|3.2	0.36748|0.36748	DNA repair nuclease, XPF-type/Helicase (1);Restriction endonuclease, type II-like (1);ERCC4 domain (2);|.	0.343384|.	0.32430|.	N|.	0.006119|.	T|T	0.43656|0.43656	0.1257|0.1257	L|L	0.35288|0.35288	1.05|1.05	0.36284|0.36284	D|D	0.855981|0.855981	B|.	0.29805|.	0.257|.	B|.	0.31442|.	0.13|.	T|T	0.46317|0.46317	-0.9200|-0.9200	10|5	0.13470|.	T|.	0.59|.	-1.6633|-1.6633	6.6325|6.6325	0.22865|0.22865	0.0927:0.0:0.7303:0.177|0.0927:0.0:0.7303:0.177	.|.	321|.	Q96NY9|.	MUS81_HUMAN|.	T|N	246;321;321|245	ENSP00000432287:A246T;ENSP00000307853:A321T|.	ENSP00000307853:A321T|.	A|S	+|+	1|2	0|0	MUS81|MUS81	65387768|65387768	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.034000|0.034000	0.12701|0.12701	3.588000|3.588000	0.53964|0.53964	1.370000|1.370000	0.46153|0.46153	0.563000|0.563000	0.77884|0.77884	GCA|AGC		0.637	MUS81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390941.3	NM_025128	Missense_Mutation	A	65631192	G	A	65631192	5	1	758	1	0	0	0	0	0	0	1	0	9990	1014	35	2	995	2	MUS81	11	65631192	Splice_Site	SNP	G	TCGA-KV-A6GD-01A-11D-A31X-10	462979	65631192	69375324	38	44737											
INPPL1	3636	hgsc.bcm.edu	37	11	71948603	71948603	+	Silent	SNP	A	A	G			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr11:71948603A>G	ENST00000298229.2	+	26	3519	c.3315A>G	c.(3313-3315)ccA>ccG	p.P1105P	INPPL1_ENST00000538751.1_Silent_p.P863P|INPPL1_ENST00000541756.1_Silent_p.P863P|PHOX2A_ENST00000544057.1_5'Flank	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	1105	Pro-rich.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GCCCCTCACCAGCCAGCACTT	0.692																																																0													19	21	20					11																	71948603		2108	4155	6263	SO:0001819	synonymous_variant	3636			Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"Sterile alpha motif (SAM) domain containing", "SH2 domain containing"	6080	protein-coding gene	gene with protein product	"51C protein"	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.3315A>G	chr11.hg19:g.71948603A>G			B2RTX5|Q13577|Q13578	Silent	SNP	ENST00000298229.2	hg19	CCDS8213.1																																																																																				0.692	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396789.1	NM_001567		G	71948603	A	G	71948603	2	3	758	1	0	0	0	0	0	0	0	1	7763	175	7	3		3	INPPL1	11	71948603	Silent	SNP	A	TCGA-KV-A6GD-01A-11D-A31X-10	6317411	71948603	63057913	39	44738											
C2CD3	26005	hgsc.bcm.edu	37	11	73796809	73796809	+	Missense_Mutation	SNP	C	C	G			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr11:73796809C>G	ENST00000334126.7	-	21	3990	c.3764G>C	c.(3763-3765)tGt>tCt	p.C1255S	C2CD3_ENST00000313663.7_Missense_Mutation_p.C1255S			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1255	C2 1.				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)					GCAGAAAGAACAGGCCACAGG	0.547																																																0													86	75	79					11																	73796809		2200	4293	6493	SO:0001583	missense	26005			BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.3764G>C	chr11.hg19:g.73796809C>G	ENSP00000334379:p.Cys1255Ser		C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	hg19		.	.	.	.	.	.	.	.	.	.	C	20.1	3.935426	0.73442	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681;ENST00000414160	T;T;T	0.37411	1.2;1.2;1.2	5.8	4.88	0.63580	.	0.169348	0.50627	D	0.000102	T	0.27241	0.0668	L	0.29908	0.895	0.42377	D	0.992478	P	0.47910	0.902	B	0.40066	0.318	T	0.03008	-1.1083	10	0.37606	T	0.19	-9.4621	13.9561	0.64150	0.0:0.9267:0.0:0.0733	.	1255	Q4AC94-1	.	S	1255;1255;1255;63	ENSP00000334379:C1255S;ENSP00000323339:C1255S;ENSP00000388750:C63S	ENSP00000323339:C1255S	C	-	2	0	C2CD3	73474457	0.998000	0.40836	1.000000	0.80357	0.951000	0.60555	3.590000	0.53979	2.742000	0.94016	0.655000	0.94253	TGT		0.547	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		G	73796809	C	G	73796809	3	3	758	1	0	0	0	0	1	0	0	0	2156	478	17	4	2171	4	C2CD3	11	73796809	Missense_Mutation	SNP	C	TCGA-KV-A6GD-01A-11D-A31X-10	1848206	73796809	61209707	40	44739											
YAP1	10413	hgsc.bcm.edu	37	11	102100555	102100555	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr11:102100555G>T	ENST00000282441.5	+	9	1787	c.1399G>T	c.(1399-1401)Gga>Tga	p.G467*	YAP1_ENST00000528834.1_3'UTR|YAP1_ENST00000531439.1_Nonsense_Mutation_p.G451*|YAP1_ENST00000526343.1_Nonsense_Mutation_p.G413*|RP11-864G5.3_ENST00000526310.1_RNA|YAP1_ENST00000537274.1_Nonsense_Mutation_p.G455*|YAP1_ENST00000524575.1_Nonsense_Mutation_p.G289*|YAP1_ENST00000345877.2_Nonsense_Mutation_p.G417*	NM_001130145.2|NM_001282101.1	NP_001123617.1|NP_001269030.1	P46937	YAP1_HUMAN	Yes-associated protein 1	467	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)		GAACATAGAAGGAGAGGAGCT	0.483																																					Colon(50;247 1103 7861 28956)											0													131	123	126					11																	102100555		2203	4299	6502	SO:0001587	stop_gained	10413				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.1399G>T	chr11.hg19:g.102100555G>T	ENSP00000282441:p.Gly467*		B4DTY1|B7ZA01|E3WEB5|E3WEB6|E9PRV2|F5H202|K0KQ18|K0KYZ8|K0L195|K0L1G3|Q7Z574|Q8IUY9	Nonsense_Mutation	SNP	ENST00000282441.5	hg19	CCDS44716.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	8.303129|8.303129	0.98750|0.98750	.|.	.|.	ENSG00000137693|ENSG00000137693	ENST00000526343;ENST00000282441;ENST00000537274;ENST00000345877;ENST00000445250;ENST00000531439;ENST00000524575|ENST00000529029	.|.	.|.	.|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.77638	.|0.4160	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73658	.|-0.3913	.|4	0.87932|.	D|.	0|.	.|.	20.8794|20.8794	0.99867|0.99867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|N	413;467;455;417;384;451;289|220	.|.	ENSP00000282441:G467X|.	G|K	+|+	1|3	0|2	YAP1|YAP1	101605765|101605765	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.981000|0.981000	0.71138|0.71138	9.441000|9.441000	0.97557|0.97557	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GGA|AAG		0.483	YAP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394151.1	NM_006106		T	102100555	G	T	102100555	4	4	758	1	0	0	0	0	0	1	0	0	17471	1001	35	4	1445	4	YAP1	11	102100555	Nonsense_Mutation	SNP	G	TCGA-KV-A6GD-01A-11D-A31X-10	28303746	102100555	32905961	41	44740											
ARHGAP32	9743	hgsc.bcm.edu	37	11	128933815	128933815	+	Silent	SNP	A	A	G			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr11:128933815A>G	ENST00000310343.9	-	8	824	c.825T>C	c.(823-825)ccT>ccC	p.P275P	ARHGAP32_ENST00000524655.1_Silent_p.P201P	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	275	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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						TCAGTTCGTCAGGGGCCCGAG	0.433																																																0													162	158	160					11																	128933815		1566	3579	5145	SO:0001819	synonymous_variant	9743			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.825T>C	chr11.hg19:g.128933815A>G			I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Silent	SNP	ENST00000310343.9	hg19	CCDS44769.1																																																																																				0.433	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		G	128933815	A	G	128933815	2	3	758	1	0	0	0	0	0	0	0	1	881	175	7	3		3	ARHGAP32	11	128933815	Silent	SNP	A	TCGA-KV-A6GD-01A-11D-A31X-10	26833260	128933815	6072701	42	44741											
CLSTN3	9746	hgsc.bcm.edu	37	12	7302198	7302198	+	Silent	SNP	T	T	C			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr12:7302198T>C	ENST00000266546.6	+	14	2604	c.2154T>C	c.(2152-2154)gaT>gaC	p.D718D	CLSTN3_ENST00000537408.1_Silent_p.D730D	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	718					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)			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						ATGACCTGGATCCCGAGCGGG	0.572																																																0													86	78	80					12																	7302198		2203	4300	6503	SO:0001819	synonymous_variant	9746			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.2154T>C	chr12.hg19:g.7302198T>C			D3DUT6|O94831|Q2T9J5|Q5UE57	Silent	SNP	ENST00000266546.6	hg19	CCDS8575.1																																																																																				0.572	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398560.2	NM_014718		C	7302198	T	C	7302198	2	2	758	1	0	0	0	0	0	0	0	1	3565	1432	50	3		3	CLSTN3	12	7302198	Silent	SNP	T	TCGA-KV-A6GD-01A-11D-A31X-10		7302198	126549697	43	44742											
MON2	23041	hgsc.bcm.edu	37	12	62954577	62954577	+	Missense_Mutation	SNP	T	T	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr12:62954577T>A	ENST00000393632.2	+	26	4107	c.3716T>A	c.(3715-3717)cTa>cAa	p.L1239Q	MON2_ENST00000280379.6_Missense_Mutation_p.L1240Q|MON2_ENST00000552738.1_Missense_Mutation_p.L1216Q|MON2_ENST00000393629.2_Missense_Mutation_p.L1239Q|MON2_ENST00000393630.3_Missense_Mutation_p.L1240Q|MON2_ENST00000546600.1_Missense_Mutation_p.L1239Q	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	1239					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)		GATTTGAATCTATGGTGGGCT	0.393																																																0													92	90	91					12																	62954577		2203	4300	6503	SO:0001583	missense	23041				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.3716T>A	chr12.hg19:g.62954577T>A	ENSP00000377252:p.Leu1239Gln		A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Missense_Mutation	SNP	ENST00000393632.2	hg19	CCDS31849.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.100011	0.76983	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000280379;ENST00000546600;ENST00000552738;ENST00000393629	T;T;T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47;-0.47;-0.47	5.03	5.03	0.67393	.	0.000000	0.64402	D	0.000001	T	0.79857	0.4518	L	0.52759	1.655	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.997;0.979;1.0;1.0	D;P;P;D;D	0.83275	0.99;0.861;0.793;0.994;0.996	T	0.79308	-0.1857	9	.	.	.	-5.6366	15.0609	0.71951	0.0:0.0:0.0:1.0	.	1239;1216;1239;114;1239	B9EGP5;F8VWA6;F8W1Z6;Q7Z3U7-3;Q7Z3U7-4	.;.;.;.;.	Q	1239;1240;1240;1239;1216;1239	ENSP00000377252:L1239Q;ENSP00000377250:L1240Q;ENSP00000280379:L1240Q;ENSP00000447407:L1239Q;ENSP00000449215:L1216Q;ENSP00000377249:L1239Q	.	L	+	2	0	MON2	61240844	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.787000	0.85759	2.031000	0.59945	0.377000	0.23210	CTA		0.393	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3	NM_015026		A	62954577	T	A	62954577	3	1	758	1	0	0	0	0	1	0	0	0	9702	1522	53	5	3818	5	MON2	12	62954577	Missense_Mutation	SNP	T	TCGA-KV-A6GD-01A-11D-A31X-10	55652379	62954577	70897318	44	44743											
MRPS31	10240	hgsc.bcm.edu	37	13	41323388	41323388	+	Missense_Mutation	SNP	A	A	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr13:41323388A>T	ENST00000323563.6	-	6	880	c.844T>A	c.(844-846)Ttt>Att	p.F282I	MRPS31_ENST00000498078.1_5'UTR	NM_005830.3	NP_005821.2	Q92665	RT31_HUMAN	mitochondrial ribosomal protein S31	282						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)		TGCTTAGCAAATTCCACATCC	0.368																																																0													103	90	94					13																	41323388		2203	4300	6503	SO:0001583	missense	10240			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.844T>A	chr13.hg19:g.41323388A>T	ENSP00000315397:p.Phe282Ile		B2RCS3|Q5VYC8|Q8WTV8	Missense_Mutation	SNP	ENST00000323563.6	hg19	CCDS9372.1	.	.	.	.	.	.	.	.	.	.	A	16.70	3.196191	0.58126	.	.	ENSG00000102738	ENST00000323563	T	0.30182	1.54	5.17	5.17	0.71159	.	0.105571	0.64402	D	0.000003	T	0.50973	0.1647	M	0.80982	2.52	0.40731	D	0.982746	D	0.71674	0.998	D	0.65233	0.933	T	0.54255	-0.8321	10	0.37606	T	0.19	.	8.5691	0.33558	0.912:0.0:0.088:0.0	.	282	Q92665	RT31_HUMAN	I	282	ENSP00000315397:F282I	ENSP00000315397:F282I	F	-	1	0	MRPS31	40221388	1.000000	0.71417	0.995000	0.50966	0.613000	0.37349	2.868000	0.48436	1.947000	0.56498	0.524000	0.50904	TTT		0.368	MRPS31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044640.2			T	41323388	A	T	41323388	3	4	758	1	0	0	0	0	1	0	0	0	9843	101	4	5	351	5	MRPS31	13	41323388	Missense_Mutation	SNP	A	TCGA-KV-A6GD-01A-11D-A31X-10		41323388	73846490	45	44744											
COL4A2	1284	hgsc.bcm.edu	37	13	111117912	111117912	+	Missense_Mutation	SNP	T	T	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr13:111117912T>A	ENST00000360467.5	+	25	2243	c.1937T>A	c.(1936-1938)tTc>tAc	p.F646Y	COL4A2-AS2_ENST00000458403.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	646	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)			CCACCAGGCTTCCTGGGCCCT	0.597																																																0													29	34	32					13																	111117912		1873	4094	5967	SO:0001583	missense	1284			AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"Collagens"	2203	protein-coding gene	gene with protein product	"canstatin", "collagen type IV alpha 2"	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.1937T>A	chr13.hg19:g.111117912T>A	ENSP00000353654:p.Phe646Tyr		Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	hg19	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	T	0.019	-1.456320	0.01071	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.93247	-3.19	4.82	3.55	0.40652	.	0.654622	0.13725	N	0.367070	D	0.84942	0.5584	N	0.17674	0.51	0.09310	N	0.999999	B	0.23650	0.089	B	0.17098	0.017	T	0.72966	-0.4131	10	0.29301	T	0.29	.	5.8702	0.18799	0.1497:0.0841:0.0:0.7662	.	646	P08572	CO4A2_HUMAN	Y	646	ENSP00000353654:F646Y	ENSP00000257309:F646Y	F	+	2	0	COL4A2	109915913	0.000000	0.05858	0.103000	0.21229	0.102000	0.19082	0.319000	0.19522	1.802000	0.52723	0.379000	0.24179	TTC		0.597	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		A	111117912	T	A	111117912	3	1	758	1	0	0	0	0	1	0	0	0	3692	1783	62	5	2031	5	COL4A2	13	111117912	Missense_Mutation	SNP	T	TCGA-KV-A6GD-01A-11D-A31X-10	69794524	111117912	4051966	46	44745											
GTF2A1	2957	hgsc.bcm.edu	37	14	81659105	81659105	+	Missense_Mutation	SNP	T	T	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr14:81659105T>A	ENST00000553612.1	-	7	1094	c.691A>T	c.(691-693)Aat>Tat	p.N231Y	GTF2A1_ENST00000434192.2_Missense_Mutation_p.N192Y	NM_001278940.1|NM_015859.3	NP_001265869.1|NP_056943.1	P52655	TF2AA_HUMAN	general transcription factor IIA, 1, 19/37kDa	231					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(234;0.0287)		TGAGTCTTATTTCCTGTAAAT	0.502																																																0													174	172	173					14																	81659105		2203	4300	6503	SO:0001583	missense	2957			X75383	CCDS9873.1, CCDS9874.1	14q31	2010-03-23	2002-08-29					"General transcription factors"	4646	protein-coding gene	gene with protein product		600520	"glucose regulated protein, 58kD pseudogene"			8224848	Standard	NM_015859		Approved	TFIIA	uc001xvf.2	P52655		ENST00000553612.1:c.691A>T	chr14.hg19:g.81659105T>A	ENSP00000452454:p.Asn231Tyr		Q3KNQ9	Missense_Mutation	SNP	ENST00000553612.1	hg19	CCDS9873.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.444489	0.83993	.	.	ENSG00000165417	ENST00000553612;ENST00000344860;ENST00000434192	T;T	0.44083	0.93;0.93	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.62588	0.2440	M	0.68952	2.095	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	T	0.64723	-0.6340	10	0.52906	T	0.07	-21.9526	15.3673	0.74531	0.0:0.0:0.0:1.0	.	231	P52655	TF2AA_HUMAN	Y	231;192;192	ENSP00000452454:N231Y;ENSP00000409492:N192Y	ENSP00000298173:N231Y	N	-	1	0	GTF2A1	80728858	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.643000	0.83403	2.084000	0.62774	0.533000	0.62120	AAT		0.502	GTF2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413309.1	NM_015859		A	81659105	T	A	81659105	3	1	758	1	0	0	0	0	1	0	0	0	6854	1841	64	5	451	5	GTF2A1	14	81659105	Missense_Mutation	SNP	T	TCGA-KV-A6GD-01A-11D-A31X-10		81659105	25690435	47	44746											
SETD3	84193	hgsc.bcm.edu	37	14	99929881	99929881	+	Silent	SNP	C	C	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr14:99929881C>T	ENST00000331768.5	-	3	297	c.138G>A	c.(136-138)gaG>gaA	p.E46E	SETD3_ENST00000329331.3_Silent_p.E46E|SETD3_ENST00000453938.1_5'UTR|SETD3_ENST00000436070.2_Silent_p.E46E	NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	46					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)				ACTCTTCCCACTCTTTTCCTG	0.413																																																0													84	71	76					14																	99929881		2203	4300	6503	SO:0001819	synonymous_variant	84193			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.138G>A	chr14.hg19:g.99929881C>T			A0PJU3|A5PLP0|B4DZE8|Q0VAQ2|Q659C0|Q86TU8|Q96GY9|Q9H5U5	Silent	SNP	ENST00000331768.5	hg19	CCDS9951.1																																																																																				0.413	SETD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072339.3	NM_032233		T	99929881	C	T	99929881	2	4	758	1	0	0	0	0	0	0	0	1	14138	564	20	2		2	SETD3	14	99929881	Silent	SNP	C	TCGA-KV-A6GD-01A-11D-A31X-10	18270776	99929881	7419659	48	44747											
MTMR15	22909	hgsc.bcm.edu	37	15	31197838	31197838	+	Missense_Mutation	SNP	T	T	G			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr15:31197838T>G	ENST00000362065.4	+	2	1263	c.972T>G	c.(970-972)caT>caG	p.H324Q	FAN1_ENST00000561594.1_Missense_Mutation_p.H324Q|FAN1_ENST00000561607.1_Missense_Mutation_p.H324Q|FAN1_ENST00000565466.1_Missense_Mutation_p.H324Q	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	324					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						CAAAATCTCATAGTTCTGCAG	0.418								Direct reversal of damage																																								0													71	67	68					15																	31197838		2202	4300	6502	SO:0001583	missense	22909				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.972T>G	chr15.hg19:g.31197838T>G	ENSP00000354497:p.His324Gln		A8K4M2|Q86WU8	Missense_Mutation	SNP	ENST00000362065.4	hg19	CCDS32186.1	.	.	.	.	.	.	.	.	.	.	T	3.821	-0.037772	0.07497	.	.	ENSG00000198690	ENST00000362065	T	0.40756	1.02	5.46	-9.68	0.00528	.	2.519990	0.00901	N	0.002356	T	0.18299	0.0439	N	0.16478	0.41	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.17228	-1.0376	10	0.12766	T	0.61	0.1551	2.0377	0.03543	0.2596:0.2533:0.3519:0.1352	.	324;324	Q9Y2M0;Q9Y2M0-2	FAN1_HUMAN;.	Q	324	ENSP00000354497:H324Q	ENSP00000354497:H324Q	H	+	3	2	FAN1	28985130	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-3.615000	0.00414	-2.231000	0.00718	-0.291000	0.09656	CAT		0.418	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430740.1	NM_014967		G	31197838	T	G	31197838	3	3	758	1	0	0	0	0	1	0	0	0	9945	1403	49	5	974	5	MTMR15	15	31197838	Missense_Mutation	SNP	T	TCGA-KV-A6GD-01A-11D-A31X-10		31197838	71333554	49	44748											
SIN3A	25942	hgsc.bcm.edu	37	15	75705130	75705130	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr15:75705130G>A	ENST00000394947.3	-	5	1044	c.730C>T	c.(730-732)Cag>Tag	p.Q244*	SIN3A_ENST00000360439.4_Nonsense_Mutation_p.Q244*|SIN3A_ENST00000394949.4_Nonsense_Mutation_p.Q244*	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						GGTGggggctgaggagctggc	0.552																																																0													81	75	77					15																	75705130		2197	4294	6491	SO:0001587	stop_gained	25942			AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"SIN3 homolog A, transcription regulator (yeast)", "SIN3 transcription regulator homolog A (yeast)"			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.730C>T	chr15.hg19:g.75705130G>A	ENSP00000378402:p.Gln244*			Nonsense_Mutation	SNP	ENST00000394947.3	hg19	CCDS10279.1	.	.	.	.	.	.	.	.	.	.	G	37	6.213995	0.97380	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	.	.	.	6.04	5.12	0.69794	.	0.098566	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-11.3013	14.2887	0.66263	0.0708:0.0:0.9292:0.0	.	.	.	.	X	244	.	ENSP00000353622:Q244X	Q	-	1	0	SIN3A	73492183	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.867000	0.99620	1.557000	0.49525	0.561000	0.74099	CAG		0.552	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1	NM_015477		A	75705130	G	A	75705130	4	1	758	1	0	0	0	0	0	1	0	0	14331	1299	45	2	3159	2	SIN3A	15	75705130	Nonsense_Mutation	SNP	G	TCGA-KV-A6GD-01A-11D-A31X-10	44507292	75705130	26826262	50	44749											
RASGRF1	5923	hgsc.bcm.edu	37	15	79350728	79350728	+	Missense_Mutation	SNP	A	A	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr15:79350728A>T	ENST00000419573.3	-	3	753	c.479T>A	c.(478-480)cTt>cAt	p.L160H	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.L160H	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	160					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						CTGCTGCCGAAGCTGCTTGGC	0.602																																																0													124	101	109					15																	79350728		2196	4293	6489	SO:0001583	missense	5923			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.479T>A	chr15.hg19:g.79350728A>T	ENSP00000405963:p.Leu160His		F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	ENST00000419573.3	hg19	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.982389	0.74474	.	.	ENSG00000058335	ENST00000419573;ENST00000394741	T	0.46819	0.86	4.59	4.59	0.56863	.	0.000000	0.64402	D	0.000005	T	0.62258	0.2413	L	0.55481	1.735	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.85130	0.954;0.984;0.993;0.997	T	0.65492	-0.6155	10	0.87932	D	0	.	11.9588	0.52997	1.0:0.0:0.0:0.0	.	160;160;160;160	A8K270;Q8IUU5;Q13972;F8VPA5	.;.;RGRF1_HUMAN;.	H	160	ENSP00000405963:L160H	ENSP00000378224:L160H	L	-	2	0	RASGRF1	77137783	1.000000	0.71417	0.997000	0.53966	0.677000	0.39632	8.730000	0.91510	1.917000	0.55516	0.443000	0.29094	CTT		0.602	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		T	79350728	A	T	79350728	3	4	758	1	0	0	0	0	1	0	0	0	13078	72	3	5	3446	5	RASGRF1	15	79350728	Missense_Mutation	SNP	A	TCGA-KV-A6GD-01A-11D-A31X-10	3645598	79350728	23180664	51	44750											
GRIN2A	2903	hgsc.bcm.edu	37	16	9858489	9858489	+	Missense_Mutation	SNP	T	T	C			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr16:9858489T>C	ENST00000396573.2	-	14	3221	c.2912A>G	c.(2911-2913)cAg>cGg	p.Q971R	GRIN2A_ENST00000562109.1_Missense_Mutation_p.Q971R|GRIN2A_ENST00000396575.2_Missense_Mutation_p.Q971R|GRIN2A_ENST00000330684.3_Missense_Mutation_p.Q971R|GRIN2A_ENST00000404927.2_Missense_Mutation_p.Q971R|GRIN2A_ENST00000535259.1_Missense_Mutation_p.Q814R	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	971					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)	GTTATCCTTCTGCCGGTTGGC	0.468																																																0													151	131	137					16																	9858489		2197	4300	6497	SO:0001583	missense	2903				CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.2912A>G	chr16.hg19:g.9858489T>C	ENSP00000379818:p.Gln971Arg		O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	hg19	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	T	5.637	0.302152	0.10678	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.11712	2.75;2.75;2.76;2.75;2.75	5.33	5.33	0.75918	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.088776	0.85682	D	0.000000	T	0.08714	0.0216	L	0.27053	0.805	0.23293	N	0.997962	B;B;B	0.24317	0.034;0.101;0.005	B;B;B	0.29440	0.062;0.102;0.008	T	0.32428	-0.9907	9	.	.	.	.	10.6354	0.45563	0.0:0.0:0.1607:0.8393	.	814;971;971	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	R	971;971;814;971;971	ENSP00000379818:Q971R;ENSP00000385872:Q971R;ENSP00000441572:Q814R;ENSP00000332549:Q971R;ENSP00000379820:Q971R	.	Q	-	2	0	GRIN2A	9765990	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	4.691000	0.61738	2.016000	0.59253	0.533000	0.62120	CAG		0.468	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			C	9858489	T	C	9858489	3	2	758	1	0	0	0	0	1	0	0	0	6781	1580	55	3	1486	3	GRIN2A	16	9858489	Missense_Mutation	SNP	T	TCGA-KV-A6GD-01A-11D-A31X-10		9858489	80496264	52	44751											
ITGAX	3687	hgsc.bcm.edu	37	16	31373395	31373395	+	Splice_Site	SNP	G	G	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr16:31373395G>A	ENST00000268296.4	+	11	1207		c.e11-1		ITGAX_ENST00000562522.1_Splice_Site	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)						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						TTTTCTCCCAGGATGGCCCCG	0.592																																																0													82	87	86					16																	31373395		2197	4300	6497	SO:0001630	splice_region_variant	3687			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.1087-1G>A	chr16.hg19:g.31373395G>A			Q8IVA6	Splice_Site	SNP	ENST00000268296.4	hg19	CCDS10711.1	.	.	.	.	.	.	.	.	.	.	g	13.52	2.262216	0.39995	.	.	ENSG00000140678	ENST00000268296	.	.	.	4.5	4.5	0.54988	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4899	0.67645	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ITGAX	31280896	1.000000	0.71417	1.000000	0.80357	0.483000	0.33249	5.608000	0.67654	2.217000	0.71921	0.580000	0.79431	.		0.592	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887	Intron	A	31373395	G	A	31373395	5	1	758	1	0	0	0	0	0	0	1	0	7891	1014	35	2	1128	2	ITGAX	16	31373395	Splice_Site	SNP	G	TCGA-KV-A6GD-01A-11D-A31X-10	21514906	31373395	58981358	53	44752											
ITGAX	3687	hgsc.bcm.edu	37	16	31383064	31383064	+	Missense_Mutation	SNP	G	G	A	rs368436373		TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr16:31383064G>A	ENST00000268296.4	+	17	2240	c.2119G>A	c.(2119-2121)Ggg>Agg	p.G707R	ITGAX_ENST00000562522.1_Missense_Mutation_p.G707R	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	707					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						CCGAGTCCTCGGGCTGAAGGC	0.652																																																0								G	ARG/GLY	0,4394		0,0,2197	60	54	56		2119	4.4	0	16		56	2,8598	2.2+/-6.3	0,2,4298	no	missense	ITGAX	NM_000887.3	125	0,2,6495	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	707/1164	31383064	2,12992	2197	4300	6497	SO:0001583	missense	3687			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.2119G>A	chr16.hg19:g.31383064G>A	ENSP00000268296:p.Gly707Arg		Q8IVA6	Missense_Mutation	SNP	ENST00000268296.4	hg19	CCDS10711.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.741680	0.49151	0.0	2.33E-4	ENSG00000140678	ENST00000268296	T	0.44881	0.91	5.4	4.43	0.53597	Integrin alpha-2 (1);	.	.	.	.	T	0.51398	0.1672	L	0.55834	1.745	0.09310	N	1	D	0.59767	0.986	P	0.56514	0.8	T	0.38436	-0.9661	9	0.49607	T	0.09	.	10.5956	0.45336	0.0933:0.0:0.9067:0.0	.	707	P20702	ITAX_HUMAN	R	707	ENSP00000268296:G707R	ENSP00000268296:G707R	G	+	1	0	ITGAX	31290565	0.076000	0.21285	0.028000	0.17463	0.033000	0.12548	2.282000	0.43461	2.662000	0.90505	0.655000	0.94253	GGG		0.652	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		A	31383064	G	A	31383064	3	1	758	1	0	0	0	0	1	0	0	0	7891	1116	39	1	2185	1	ITGAX	16	31383064	Missense_Mutation	SNP	G	TCGA-KV-A6GD-01A-11D-A31X-10	9669	31383064	58971689	54	44753											
COL1A1	1277	hgsc.bcm.edu	37	17	48277127	48277127	+	Silent	SNP	G	G	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr17:48277127G>A	ENST00000225964.5	-	2	403	c.285C>T	c.(283-285)tgC>tgT	p.C95C		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	95	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				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)	AGCCGTCGGGGCAGACGGGAC	0.726			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta																																Dom	yes		17	17q21.31-q22	1277	"collagen, type I, alpha 1"	yes	M	0													47	49	48					17																	48277127		2202	4300	6502	SO:0001819	synonymous_variant	1277			Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"Collagens"	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.285C>T	chr17.hg19:g.48277127G>A			O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Silent	SNP	ENST00000225964.5	hg19	CCDS11561.1																																																																																				0.726	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2			A	48277127	G	A	48277127	2	1	758	1	0	0	0	0	0	0	0	1	3679	1195	42	2		2	COL1A1	17	48277127	Silent	SNP	G	TCGA-KV-A6GD-01A-11D-A31X-10		48277127	32918083	55	44754											
SFRS1	6426	hgsc.bcm.edu	37	17	56083837	56083837	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr17:56083837G>T	ENST00000258962.4	-	2	454	c.246C>A	c.(244-246)taC>taA	p.Y82*	SRSF1_ENST00000585096.1_Intron|SRSF1_ENST00000582730.2_Nonsense_Mutation_p.Y82*|SRSF1_ENST00000581497.1_5'Flank|RP11-159D12.5_ENST00000578794.1_5'Flank|SRSF1_ENST00000584773.1_Nonsense_Mutation_p.Y82*	NM_006924.4	NP_008855.1	Q07955	SRSF1_HUMAN	serine/arginine-rich splicing factor 1	82	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cardiac muscle contraction (GO:0060048)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|mRNA 3'-end processing (GO:0031124)|mRNA 5'-splice site recognition (GO:0000395)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|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)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.Y82*(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCCGCAGACGGTACCCATCGT	0.637																																																1	Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(1)											30	28	29					17																	56083837		2203	4298	6501	SO:0001587	stop_gained	6426				CCDS11600.1, CCDS58580.1	17q22	2013-02-12	2010-06-22	2010-06-22	ENSG00000136450	ENSG00000136450		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10780	protein-coding gene	gene with protein product	"splicing factor 2", "pre-mRNA-splicing factor SF2, P33 subunit", "alternate splicing factor", "SR splicing factor 1"	600812	"splicing factor, arginine/serine-rich 1"	SFRS1		8530103, 20516191	Standard	NM_006924		Approved	ASF, SF2, SRp30a, SF2p33, MGC5228	uc002ivi.3	Q07955		ENST00000258962.4:c.246C>A	chr17.hg19:g.56083837G>T	ENSP00000258962:p.Tyr82*		B2R6Z7|D3DTZ3|Q13809	Nonsense_Mutation	SNP	ENST00000258962.4	hg19	CCDS11600.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.149607	0.78001	.	.	ENSG00000136450	ENST00000258962	.	.	.	5.96	-2.82	0.05787	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	13.3631	0.60667	0.5712:0.0:0.4287:0.0	.	.	.	.	X	82	.	ENSP00000258962:Y82X	Y	-	3	2	SRSF1	53438836	1.000000	0.71417	0.931000	0.37212	0.911000	0.54048	0.912000	0.28597	-0.291000	0.09012	-0.794000	0.03295	TAC		0.637	SRSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443335.1	NM_006924		T	56083837	G	T	56083837	4	4	758	1	0	0	0	0	0	1	0	0	14171	1256	44	4	566	4	SFRS1	17	56083837	Nonsense_Mutation	SNP	G	TCGA-KV-A6GD-01A-11D-A31X-10	7806710	56083837	25111373	56	44755											
NETO1	81832	hgsc.bcm.edu	37	18	70450990	70450990	+	Missense_Mutation	SNP	A	A	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr18:70450990A>T	ENST00000327305.6	-	7	1448	c.791T>A	c.(790-792)cTt>cAt	p.L264H	NETO1_ENST00000299430.2_Missense_Mutation_p.L263H|NETO1_ENST00000583169.1_Missense_Mutation_p.L264H	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	264	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		GATCACCCCAAGACCCGTGCG	0.478																																																0													193	165	174					18																	70450990		2203	4300	6503	SO:0001583	missense	81832			AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.791T>A	chr18.hg19:g.70450990A>T	ENSP00000313088:p.Leu264His		Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	ENST00000327305.6	hg19	CCDS12000.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.261669	0.80358	.	.	ENSG00000166342	ENST00000327305;ENST00000299430	T;T	0.18174	2.23;2.23	5.27	5.27	0.74061	CUB (5);	0.000000	0.53938	D	0.000058	T	0.36082	0.0954	L	0.47716	1.5	0.80722	D	1	D;D	0.89917	1.0;0.994	D;D	0.87578	0.998;0.957	T	0.08146	-1.0736	10	0.72032	D	0.01	-10.3986	15.5016	0.75703	1.0:0.0:0.0:0.0	.	263;264	Q8TDF5-2;Q8TDF5	.;NETO1_HUMAN	H	264;263	ENSP00000313088:L264H;ENSP00000299430:L263H	ENSP00000299430:L263H	L	-	2	0	NETO1	68601970	1.000000	0.71417	0.058000	0.19502	0.790000	0.44656	9.287000	0.95975	2.102000	0.63906	0.528000	0.53228	CTT		0.478	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999		T	70450990	A	T	70450990	3	4	758	1	0	0	0	0	1	0	0	0	10341	72	3	5	826	5	NETO1	18	70450990	Missense_Mutation	SNP	A	TCGA-KV-A6GD-01A-11D-A31X-10		70450990	7626258	57	44756											
DOT1L	84444	hgsc.bcm.edu	37	19	2226194	2226194	+	Missense_Mutation	SNP	C	C	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr19:2226194C>T	ENST00000398665.3	+	27	3710	c.3674C>T	c.(3673-3675)gCg>gTg	p.A1225V		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1225					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)		GGTGGCTTGGCGGGAAGGAAG	0.677																																																0													12	16	15					19																	2226194		1920	4101	6021	SO:0001583	missense	84444			AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases"	24948	protein-coding gene	gene with protein product	"histone methyltransferase DOT1L"	607375	"DOT1-like, histone H3 methyltransferase (S. cerevisiae)"			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.3674C>T	chr19.hg19:g.2226194C>T	ENSP00000381657:p.Ala1225Val		O60379|Q96JL1	Missense_Mutation	SNP	ENST00000398665.3	hg19	CCDS42460.1	.	.	.	.	.	.	.	.	.	.	C	10.54	1.379238	0.24944	.	.	ENSG00000104885	ENST00000398665;ENST00000221482;ENST00000457590	T;T	0.30182	1.95;1.54	4.54	-0.654	0.11443	.	1.117080	0.06764	N	0.782394	T	0.21103	0.0508	L	0.31294	0.92	0.09310	N	1	B;B	0.16396	0.002;0.017	B;B	0.09377	0.001;0.004	T	0.32719	-0.9896	10	0.87932	D	0	-8.2664	5.1085	0.14796	0.0:0.5858:0.1604:0.2538	.	1225;1225	Q8TEK3;Q8TEK3-2	DOT1L_HUMAN;.	V	1225;1225;105	ENSP00000381657:A1225V;ENSP00000407411:A105V	ENSP00000221482:A1225V	A	+	2	0	DOT1L	2177194	0.000000	0.05858	0.000000	0.03702	0.225000	0.24961	0.096000	0.15147	-0.246000	0.09611	0.491000	0.48974	GCG		0.677	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482		T	2226194	C	T	2226194	3	4	758	1	0	0	0	0	1	0	0	0	4711	768	27	1	3780	1	DOT1L	19	2226194	Missense_Mutation	SNP	C	TCGA-KV-A6GD-01A-11D-A31X-10		2226194	56902789	58	44757											
RYR1	6261	hgsc.bcm.edu	37	19	38948847	38948847	+	Nonsense_Mutation	SNP	C	C	G			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr19:38948847C>G	ENST00000359596.3	+	18	2082	c.2082C>G	c.(2080-2082)taC>taG	p.Y694*	RYR1_ENST00000360985.3_Nonsense_Mutation_p.Y694*|RYR1_ENST00000355481.4_Nonsense_Mutation_p.Y694*			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	694	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				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)	ACACCCCCTACCCTGGGGCCG	0.637																																																0													52	51	51					19																	38948847		2203	4300	6503	SO:0001587	stop_gained	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.2082C>G	chr19.hg19:g.38948847C>G	ENSP00000352608:p.Tyr694*		Q16314|Q16368|Q9NPK1|Q9P1U4	Nonsense_Mutation	SNP	ENST00000359596.3	hg19	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	C	41	8.988435	0.99027	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	.	.	.	5.02	5.02	0.67125	.	0.000000	0.64402	U	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.9369	0.58320	0.0:0.9196:0.0:0.0804	.	.	.	.	X	694	.	ENSP00000347667:Y694X	Y	+	3	2	RYR1	43640687	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.109000	0.41863	2.623000	0.88846	0.549000	0.68633	TAC		0.637	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			G	38948847	C	G	38948847	4	3	758	1	0	0	0	0	0	1	0	0	13774	518	18	4	2152	4	RYR1	19	38948847	Nonsense_Mutation	SNP	C	TCGA-KV-A6GD-01A-11D-A31X-10	36722653	38948847	20180136	59	44758											
PSG5	5673	hgsc.bcm.edu	37	19	43679366	43679366	+	Splice_Site	SNP	C	C	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr19:43679366C>T	ENST00000366175.3	-	4	1095		c.e4+1		PSG5_ENST00000407568.1_Intron|PSG5_ENST00000404580.1_Missense_Mutation_p.G322D|PSG5_ENST00000407356.1_Splice_Site|PSG5_ENST00000599812.1_Splice_Site|PSG5_ENST00000342951.6_Splice_Site			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5						female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				GATCCACTTACCAGAGACTTC	0.463																																																0													125	148	140					19																	43679366		2202	4292	6494	SO:0001630	splice_region_variant	5673				CCDS12617.1	19q13.2	2013-01-29			ENSG00000204941	ENSG00000204941		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9522	protein-coding gene	gene with protein product	"pregnancy-specific beta-1 glycoprotein", "pregnancy-specific beta 1 glycoprotein"	176394				2735907	Standard	NM_002781		Approved	FL-NCA-3, PSG	uc002ovx.3	Q15238	OTTHUMG00000151539	ENST00000366175.3:c.964+1G>A	chr19.hg19:g.43679366C>T			Q15239|Q96QJ1|Q9UQ75	Splice_Site	SNP	ENST00000366175.3	hg19	CCDS12617.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|c	5.814|5.814	0.334421|0.334421	0.11013|0.11013	.|.	.|.	ENSG00000204941|ENSG00000204941	ENST00000366175;ENST00000407356;ENST00000342951|ENST00000404580	.|T	.|0.01252	.|5.1	1.25|1.25	1.25|1.25	0.21368|0.21368	.|.	.|.	.|.	.|.	.|.	.|T	.|0.00967	.|0.0032	.|.	.|.	.|.	0.23661|0.23661	N|N	0.99718|0.99718	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.49634	.|-0.8919	.|6	.|0.15499	.|T	.|0.54	.|.	5.8107|5.8107	0.18465|0.18465	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	.|D	-1|322	.|ENSP00000385250:G322D	.|ENSP00000385250:G322D	.|G	-|-	.|2	.|0	PSG5|PSG5	48371206|48371206	0.321000|0.321000	0.24625|0.24625	0.181000|0.181000	0.23098|0.23098	0.040000|0.040000	0.13550|0.13550	0.696000|0.696000	0.25541|0.25541	0.644000|0.644000	0.30656|0.30656	0.184000|0.184000	0.17185|0.17185	.|GGT		0.463	PSG5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323055.1	NM_002781	Intron	T	43679366	C	T	43679366	5	4	758	1	0	0	0	0	0	0	1	0	12663	521	18	2	50	2	PSG5	19	43679366	Splice_Site	SNP	C	TCGA-KV-A6GD-01A-11D-A31X-10	4730519	43679366	15449617	60	44759											
NLRP8	126205	hgsc.bcm.edu	37	19	56487643	56487643	+	Silent	SNP	C	C	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr19:56487643C>T	ENST00000291971.3	+	8	2921	c.2850C>T	c.(2848-2850)aaC>aaT	p.N950N	NLRP8_ENST00000590542.1_Silent_p.N931N	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	950					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)		CCCTGAAGAACCCTGACTGTA	0.453																																																0													139	135	136					19																	56487643		2203	4300	6503	SO:0001819	synonymous_variant	126205			AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"Nucleotide-binding domain and leucine rich repeat containing"	22940	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"	609659	"NACHT, leucine rich repeat and PYD containing 8"	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.2850C>T	chr19.hg19:g.56487643C>T			Q7RTR4	Silent	SNP	ENST00000291971.3	hg19	CCDS12937.1																																																																																				0.453	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		T	56487643	C	T	56487643	2	4	758	1	0	0	0	0	0	0	0	1	10485	506	18	2		2	NLRP8	19	56487643	Silent	SNP	C	TCGA-KV-A6GD-01A-11D-A31X-10	12808277	56487643	2641340	61	44760											
ACTR5	79913	hgsc.bcm.edu	37	20	37383625	37383625	+	Silent	SNP	T	T	C			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr20:37383625T>C	ENST00000243903.4	+	4	838	c.801T>C	c.(799-801)gaT>gaC	p.D267D		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)	267					DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|UV-damage excision repair (GO:0070914)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)				kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				GGTGTCCTGATTATTATGAGA	0.418																																																0													67	71	70					20																	37383625		2203	4300	6503	SO:0001819	synonymous_variant	79913			AK022847	CCDS13308.1	20q12	2011-07-06	2001-11-28		ENSG00000101442	ENSG00000101442		"INO80 complex subunits"	14671	protein-coding gene	gene with protein product	"INO80 complex subunit M"		"ARP5 (actin-related protein 5, yeast) homolog"			16230350	Standard	NM_024855		Approved	FLJ12785, Arp5, INO80M	uc002xjd.2	Q9H9F9	OTTHUMG00000032456	ENST00000243903.4:c.801T>C	chr20.hg19:g.37383625T>C			Q86WF7|Q8IUY5|Q8N724|Q9BRN0|Q9BVB7	Silent	SNP	ENST00000243903.4	hg19	CCDS13308.1																																																																																				0.418	ACTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079205.2	NM_024855		C	37383625	T	C	37383625	2	2	758	1	0	0	0	0	0	0	0	1	215	1490	52	3		3	ACTR5	20	37383625	Silent	SNP	T	TCGA-KV-A6GD-01A-11D-A31X-10		37383625	25641895	62	44761											
PREX1	57580	hgsc.bcm.edu	37	20	47361658	47361658	+	Silent	SNP	G	G	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr20:47361658G>A	ENST00000371941.3	-	3	340	c.318C>T	c.(316-318)atC>atT	p.I106I	PREX1_ENST00000396220.1_Silent_p.I106I	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	106	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				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)			GAACTTCCAGGATGTCTTCGA	0.473																																																0													159	163	162					20																	47361658		2203	4300	6503	SO:0001819	synonymous_variant	57580			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.318C>T	chr20.hg19:g.47361658G>A			E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Silent	SNP	ENST00000371941.3	hg19	CCDS13410.1																																																																																				0.473	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		A	47361658	G	A	47361658	2	1	758	1	0	0	0	0	0	0	0	1	12481	1164	41	2		2	PREX1	20	47361658	Silent	SNP	G	TCGA-KV-A6GD-01A-11D-A31X-10	9978033	47361658	15663862	63	44762											
GSTT1	2952	hgsc.bcm.edu	37	22	24384206	24384206	+	Missense_Mutation	SNP	A	A	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr22:24384206A>T	ENST00000248935.5	-	1	78	c.26T>A	c.(25-27)cTg>cAg	p.L9Q	GSTT1_ENST00000439996.2_5'UTR	NM_000853.2	NP_000844.2	P30711	GSTT1_HUMAN		9	GST N-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)	6					Carboplatin(DB00958)|Cisplatin(DB00515)|Etoposide(DB00773)|Glutathione(DB00143)|Oxaliplatin(DB00526)	CTGGGACAGCAGGTCCAGGTA	0.592									Myelodysplasia and Acute Myeloid Leukemia (AML), Familial																																							0													77	72	74					22																	24384206		1700	3601	5301	SO:0001583	missense	2952	Familial Cancer Database	incl.: Familial Myelodysplastic syndrome (late-onset), Familial AML, Familial Monocytic Leukemia, Familial Monosomy 7 and AML																												ENST00000248935.5:c.26T>A	chr22.hg19:g.24384206A>T	ENSP00000248935:p.Leu9Gln		O00226|Q5TZY2|Q6IC69|Q969K8|Q96IY3	Missense_Mutation	SNP	ENST00000248935.5	hg19	CCDS13822.1	.	.	.	.	.	.	.	.	.	.	.	28.3	4.911220	0.92178	.	.	ENSG00000184674	ENST00000248935;ENST00000382792;ENST00000452369;ENST00000417870;ENST00000447865	T;T;T	0.64085	-0.08;-0.08;-0.08	5.31	5.31	0.75309	Glutathione S-transferase, N-terminal (1);Thioredoxin-like fold (2);	0.000000	0.64402	U	0.000006	T	0.77922	0.4203	M	0.80508	2.5	0.80722	D	1	D	0.63046	0.992	D	0.63957	0.92	T	0.81464	-0.0921	10	0.87932	D	0	-11.7318	13.568	0.61830	1.0:0.0:0.0:0.0	.	9	P30711	GSTT1_HUMAN	Q	9	ENSP00000248935:L9Q;ENSP00000406003:L9Q;ENSP00000397362:L9Q	ENSP00000248935:L9Q	L	-	2	0	GSTT1	22714206	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	8.005000	0.88553	2.163000	0.67991	0.451000	0.29950	CTG		0.592	GSTT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320184.2			T	24384206	A	T	24384206	3	4	758	1	0	0	0	0	1	0	0	0	6847	188	7	5	716	5	GSTT1	22	24384206	Missense_Mutation	SNP	A	TCGA-KV-A6GD-01A-11D-A31X-10		24384206	26920360	64	44763											
PIK3C2B	5287	hgsc.bcm.edu	37	1	204413511	204413511	+	Missense_Mutation	SNP	A	A	G			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr1:204413511A>G	ENST00000367187.3	-	18	3276	c.2720T>C	c.(2719-2721)aTt>aCt	p.I907T	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.I879T	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	907	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GAGTGAGCCAATCCACTGCAC	0.582																																																0													83	68	73					1																	204413511		2203	4300	6503	SO:0001583	missense	5287			Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"phosphoinositide-3-kinase, class 2, beta polypeptide"			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.2720T>C	chr1.hg19:g.204413511A>G	ENSP00000356155:p.Ile907Thr		O95666|Q5SW99	Missense_Mutation	SNP	ENST00000367187.3	hg19	CCDS1446.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.730234	0.89390	.	.	ENSG00000133056	ENST00000367187;ENST00000424712	T;T	0.67345	-0.26;-0.26	5.98	5.98	0.97165	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.045667	0.85682	D	0.000000	D	0.82559	0.5063	M	0.85197	2.74	0.51482	D	0.999921	D;D	0.61697	0.98;0.99	P;P	0.62885	0.908;0.903	D	0.85512	0.1198	10	0.87932	D	0	.	16.1192	0.81329	1.0:0.0:0.0:0.0	.	879;907	F5GWN5;O00750	.;P3C2B_HUMAN	T	907;879	ENSP00000356155:I907T;ENSP00000400561:I879T	ENSP00000356155:I907T	I	-	2	0	PIK3C2B	202680134	1.000000	0.71417	0.999000	0.59377	0.902000	0.53008	9.339000	0.96797	2.288000	0.76882	0.482000	0.46254	ATT		0.582	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		G	204413511	A	G	204413511	3	3	759	1	0	0	0	0	1	0	0	0	11912	101	4	3	2252	3	PIK3C2B	1	204413511	Missense_Mutation	SNP	A	TCGA-KV-A6GE-01A-11D-A31X-10		204413511	44837110	1	44764											
TLR5	7100	hgsc.bcm.edu	37	1	223286235	223286235	+	Missense_Mutation	SNP	T	T	A			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr1:223286235T>A	ENST00000540964.1	-	4	600	c.139A>T	c.(139-141)Acc>Tcc	p.T47S	TLR5_ENST00000342210.6_Missense_Mutation_p.T47S			O60602	TLR5_HUMAN	toll-like receptor 5	47					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)		CTCTCAGTGGTGTTGAGGACC	0.547																																																0													62	63	62					1																	223286235		2203	4300	6503	SO:0001583	missense	7100				CCDS31033.1	1q32.3-q42	2014-01-29			ENSG00000187554	ENSG00000187554			11851	protein-coding gene	gene with protein product	"Toll/interleukin-1 receptor-like protein 3"	603031	"systemic lupus erythematosus susceptibility 1"	SLEB1		9435236, 16027372	Standard	NM_003268		Approved	TIL3, FLJ10052, MGC126430, MGC126431	uc001hnw.2	O60602	OTTHUMG00000037937	ENST00000540964.1:c.139A>T	chr1.hg19:g.223286235T>A	ENSP00000440643:p.Thr47Ser		B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Missense_Mutation	SNP	ENST00000540964.1	hg19	CCDS31033.1	.	.	.	.	.	.	.	.	.	.	T	10.90	1.480409	0.26598	.	.	ENSG00000187554	ENST00000540964;ENST00000366881;ENST00000342210	D;D;D	0.82526	-1.62;-1.62;-1.62	4.75	3.6	0.41247	.	0.354369	0.30510	N	0.009461	T	0.70430	0.3223	L	0.48362	1.52	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.50516	-0.8819	10	0.09084	T	0.74	.	3.4825	0.07607	0.0:0.2019:0.2085:0.5896	.	47	O60602	TLR5_HUMAN	S	47	ENSP00000440643:T47S;ENSP00000355846:T47S;ENSP00000340089:T47S	ENSP00000340089:T47S	T	-	1	0	TLR5	221352858	0.318000	0.24598	0.004000	0.12327	0.995000	0.86356	0.650000	0.24858	0.751000	0.32900	0.533000	0.62120	ACC		0.547	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003268		A	223286235	T	A	223286235	3	1	759	1	0	0	0	0	1	0	0	0	15959	1696	59	5	2441	5	TLR5	1	223286235	Missense_Mutation	SNP	T	TCGA-KV-A6GE-01A-11D-A31X-10	18872724	223286235	25964386	2	44765											
TTN	7273	hgsc.bcm.edu	37	2	179424419	179424419	+	Missense_Mutation	SNP	T	T	A			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr2:179424419T>A	ENST00000591111.1	-	276	81741	c.81517A>T	c.(81517-81519)Aat>Tat	p.N27173Y	TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.N26246Y|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.N19749Y|TTN_ENST00000359218.5_Missense_Mutation_p.N19874Y|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.N28814Y|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.N19941Y|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	27173	Ig-like 129.				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)			CTGTTGGCATTTTCAATGGTC	0.423																																																0													167	157	160					2																	179424419		2006	4191	6197	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.81517A>T	chr2.hg19:g.179424419T>A	ENSP00000465570:p.Asn27173Tyr		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	hg19		.	.	.	.	.	.	.	.	.	.	T	11.56	1.673934	0.29693	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.77	5.77	0.91146	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	0.51941	0.1704	M	0.70595	2.14	0.39978	D	0.974889	P;P;P;P	0.49253	0.921;0.921;0.921;0.921	B;B;B;B	0.42163	0.378;0.378;0.378;0.378	T	0.62742	-0.6790	9	0.87932	D	0	.	16.383	0.83481	0.0:0.0:0.0:1.0	.	19749;19874;19941;27173	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Y	26246;19749;19941;19874;19746	ENSP00000343764:N26246Y;ENSP00000434586:N19749Y;ENSP00000340554:N19941Y;ENSP00000352154:N19874Y	ENSP00000340554:N19941Y	N	-	1	0	TTN	179132665	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.039000	0.57325	2.326000	0.78906	0.533000	0.62120	AAT		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179424419	T	A	179424419	3	1	759	1	0	0	0	0	1	0	0	0	16740	1841	64	5	21687	5	TTN	2	179424419	Missense_Mutation	SNP	T	TCGA-KV-A6GE-01A-11D-A31X-10		179424419	63774954	3	44766											
EDEM1	9695	hgsc.bcm.edu	37	3	5229984	5229984	+	Missense_Mutation	SNP	C	C	G			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr3:5229984C>G	ENST00000256497.4	+	1	627	c.494C>G	c.(493-495)cCc>cGc	p.P165R	EDEM1_ENST00000445686.1_5'Flank|AC026202.1_ENST00000600805.1_5'Flank|AC026202.3_ENST00000439325.1_RNA	NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like 1	165					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-associated ubiquitin-dependent protein catabolic process (GO:0030433)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	calcium ion binding (GO:0005509)|misfolded protein binding (GO:0051787)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		GGCCGTGGGCCCGACCGCGGG	0.736																																																0													8	10	10					3																	5229984		2079	4182	6261	SO:0001583	missense	9695			D86967	CCDS33686.1	3p26.1	2008-02-05			ENSG00000134109	ENSG00000134109			18967	protein-coding gene	gene with protein product		607673				12610306	Standard	NM_014674		Approved	KIAA0212, EDEM	uc003bqi.3	Q92611	OTTHUMG00000154896	ENST00000256497.4:c.494C>G	chr3.hg19:g.5229984C>G	ENSP00000256497:p.Pro165Arg		A8K9C8|B4DXP3	Missense_Mutation	SNP	ENST00000256497.4	hg19	CCDS33686.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.679794	0.47886	.	.	ENSG00000134109	ENST00000256497	T	0.81415	-1.49	4.81	4.81	0.61882	.	0.109188	0.64402	D	0.000005	T	0.69097	0.3073	N	0.25957	0.775	0.80722	D	1	B	0.32653	0.379	B	0.34180	0.177	T	0.66685	-0.5861	10	0.05959	T	0.93	-8.2011	17.4653	0.87631	0.0:1.0:0.0:0.0	.	165	Q92611	EDEM1_HUMAN	R	165	ENSP00000256497:P165R	ENSP00000256497:P165R	P	+	2	0	EDEM1	5204984	1.000000	0.71417	0.691000	0.30163	0.932000	0.56968	5.419000	0.66435	2.199000	0.70637	0.491000	0.48974	CCC		0.736	EDEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337566.2	NM_014674		G	5229984	C	G	5229984	3	3	759	1	0	0	0	0	1	0	0	0	4913	623	22	4	496	4	EDEM1	3	5229984	Missense_Mutation	SNP	C	TCGA-KV-A6GE-01A-11D-A31X-10		5229984	192792446	4	44767											
ACY1	95	hgsc.bcm.edu	37	3	52022828	52022828	+	Missense_Mutation	SNP	C	C	A			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr3:52022828C>A	ENST00000404366.2	+	14	1194	c.1048C>A	c.(1048-1050)Cgc>Agc	p.R350S	ACY1_ENST00000494103.1_Missense_Mutation_p.R278S|ACY1_ENST00000458031.2_Missense_Mutation_p.R440S|ABHD14A-ACY1_ENST00000463937.1_Missense_Mutation_p.R451S|ACY1_ENST00000476351.1_Missense_Mutation_p.R315S|ACY1_ENST00000476854.1_Missense_Mutation_p.R285S	NM_000666.2|NM_001198895.1	NP_000657.1|NP_001185824.1	Q03154	ACY1_HUMAN	aminoacylase 1	350					cellular amino acid metabolic process (GO:0006520)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aminoacylase activity (GO:0004046)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acetylcysteine(DB06151)|L-Aspartic Acid(DB00128)	CACTGACAACCGCTATATCCG	0.567																																																0													160	172	168					3																	52022828		2203	4300	6503	SO:0001583	missense	95			L07548	CCDS2844.1, CCDS56261.1, CCDS56262.1, CCDS56263.1	3p21.2	2006-02-02			ENSG00000243989	ENSG00000243989	3.5.1.14		177	protein-coding gene	gene with protein product		104620				1707030, 6948533	Standard	NM_000666		Approved		uc003dcq.3	Q03154	OTTHUMG00000157815	ENST00000404366.2:c.1048C>A	chr3.hg19:g.52022828C>A	ENSP00000384296:p.Arg350Ser		C9J6I6|C9J9D8|C9JWD4	Missense_Mutation	SNP	ENST00000404366.2	hg19	CCDS2844.1	.	.	.	.	.	.	.	.	.	.	C	18.84	3.709106	0.68615	.	.	ENSG00000114786;ENSG00000114786;ENSG00000114786;ENSG00000243989;ENSG00000243989;ENSG00000243989;ENSG00000243989	ENST00000458031;ENST00000463937;ENST00000232907;ENST00000476854;ENST00000476351;ENST00000494103;ENST00000404366	T;T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73;0.73	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.75766	0.3894	M	0.91872	3.25	0.80722	D	1	D;D	0.76494	0.991;0.999	D;D	0.68039	0.955;0.951	T	0.80522	-0.1345	10	0.62326	D	0.03	-13.0341	19.4166	0.94703	0.0:1.0:0.0:0.0	.	440;350	B4DNW0;Q03154	.;ACY1_HUMAN	S	440;451;350;285;315;278;350	ENSP00000390557:R440S;ENSP00000420487:R451S;ENSP00000419262:R285S;ENSP00000417056:R315S;ENSP00000417618:R278S;ENSP00000384296:R350S	ENSP00000384296:R350S	R	+	1	0	ACY1;RP11-155D18.11	51997868	1.000000	0.71417	1.000000	0.80357	0.175000	0.22909	6.896000	0.75665	2.679000	0.91253	0.655000	0.94253	CGC		0.567	ACY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349657.1	NM_000666		A	52022828	C	A	52022828	3	1	759	1	0	0	0	0	1	0	0	0	226	652	23	4	1098	4	ACY1	3	52022828	Missense_Mutation	SNP	C	TCGA-KV-A6GE-01A-11D-A31X-10	46792844	52022828	145999602	5	44768											
PLXND1	23129	hgsc.bcm.edu	37	3	129281631	129281631	+	Splice_Site	SNP	A	A	G			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr3:129281631A>G	ENST00000324093.4	-	27	5002	c.4824T>C	c.(4822-4824)ctT>ctC	p.L1608L	PLXND1_ENST00000393239.1_Splice_Site_p.L1608L	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1608					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						CCCACCCACCAAGGTCGACGT	0.627																																					Ovarian(97;366 1484 3738 22084 39045)											0													64	56	58					3																	129281631		2203	4300	6503	SO:0001630	splice_region_variant	23129			AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"Plexins"	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.4825+1T>C	chr3.hg19:g.129281631A>G			A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Silent	SNP	ENST00000324093.4	hg19	CCDS33854.1																																																																																				0.627	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103	Silent	G	129281631	A	G	129281631	5	3	759	1	0	0	0	0	0	0	1	0	12129	144	5	3	993	3	PLXND1	3	129281631	Splice_Site	SNP	A	TCGA-KV-A6GE-01A-11D-A31X-10	77258803	129281631	68740799	6	44769											
F13A1	2162	hgsc.bcm.edu	37	6	6222265	6222266	+	Splice_Site	INS	-	-	CACA			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr6:6222265_6222266insCACA	ENST00000264870.3	-	8	1377_1378		c.e8+1			NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide						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)	ATCAAACTCACCACACTGAATC	0.376																																																0																																										SO:0001630	splice_region_variant	2162			M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"Transglutaminases"	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.1112+1->TGTG	chr6.hg19:g.6222266_6222269dupCACA			Q59HA7|Q8N6X2|Q96P24|Q9BX29	Splice_Site	INS	ENST00000264870.3	hg19	CCDS4496.1																																																																																				0.376	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129	Intron	CACA	6222266	-	CACA	6222265	8	5	759	1	0	1	1	0	0	0	1	0	5342	521	18	0	1117	0	F13A1	6	6222265	Splice_Site	INS	-	TCGA-KV-A6GE-01A-11D-A31X-10		6222265	164892802	7	44770											
MDGA1	266727	hgsc.bcm.edu	37	6	37622225	37622225	+	Silent	SNP	G	G	T			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr6:37622225G>T	ENST00000434837.3	-	6	1985	c.807C>A	c.(805-807)ccC>ccA	p.P269P	MDGA1_ENST00000297153.7_Silent_p.P269P|MDGA1_ENST00000505425.1_Silent_p.P269P	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	269	Ig-like 3.				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						GCTGGGGGAGGGGATCACCGC	0.642																																																0													45	48	47					6																	37622225		2076	4205	6281	SO:0001819	synonymous_variant	266727			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.807C>A	chr6.hg19:g.37622225G>T			A6NHG0|Q8NBE3	Silent	SNP	ENST00000434837.3	hg19	CCDS47417.1																																																																																				0.642	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040419.3			T	37622225	G	T	37622225	2	4	759	1	0	0	0	0	0	0	0	1	9408	1219	43	4		4	MDGA1	6	37622225	Silent	SNP	G	TCGA-KV-A6GE-01A-11D-A31X-10	31399960	37622225	133492842	8	44771											
USP45	85015	hgsc.bcm.edu	37	6	99894085	99894085	+	Silent	SNP	T	T	C			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr6:99894085T>C	ENST00000327681.6	-	14	2095	c.1563A>G	c.(1561-1563)agA>agG	p.R521R	USP45_ENST00000369233.2_Silent_p.R473R|USP45_ENST00000539675.1_Intron|USP45_ENST00000500704.2_Silent_p.R521R|USP45_ENST00000392738.2_Silent_p.R201R	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	521	USP.		R -> T (in dbSNP:rs41288947). {ECO:0000269|PubMed:15489334}.		protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		CACTACTGGATCTGAACAGCC	0.483																																																0													83	69	74					6																	99894085		2203	4300	6503	SO:0001819	synonymous_variant	85015			AL832030	CCDS34501.1	6q16.2	2008-02-05	2005-08-08		ENSG00000123552	ENSG00000123552		"Ubiquitin-specific peptidases"	20080	protein-coding gene	gene with protein product			"ubiquitin specific protease 45"			12838346	Standard	NM_001080481		Approved	MGC14793	uc003ppx.2	Q70EL2	OTTHUMG00000015267	ENST00000327681.6:c.1563A>G	chr6.hg19:g.99894085T>C			B2RXG0|Q5T062|Q86T44|Q86TC0|Q9BRU1	Silent	SNP	ENST00000327681.6	hg19	CCDS34501.1																																																																																				0.483	USP45-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041609.2	NM_032929		C	99894085	T	C	99894085	2	2	759	1	0	0	0	0	0	0	0	1	17081	1432	50	3		3	USP45	6	99894085	Silent	SNP	T	TCGA-KV-A6GE-01A-11D-A31X-10	62271860	99894085	71220982	9	44772											
ENPP1	5167	hgsc.bcm.edu	37	6	132211511	132211511	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr6:132211511delG	ENST00000360971.2	+	25	2658	c.2638delG	c.(2638-2640)gaafs	p.E880fs		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	880	Nuclease.				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)	ATGGGTTGAAGAATTGTTAAT	0.388																																					Colon(104;336 1535 5856 11019 33782)											0													132	123	126					6																	132211511		2203	4300	6503	SO:0001589	frameshift_variant	5167			M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.2638delG	chr6.hg19:g.132211511delG	ENSP00000354238:p.Glu880fs		Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Frame_Shift_Del	DEL	ENST00000360971.2	hg19	CCDS5150.2																																																																																				0.388	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042238.2			-	132211511	G	-	132211511	7	5	759	1	0	1	0	1	0	0	0	0	5131	943	33	0	2736	0	ENPP1	6	132211511	Frame_Shift_Del	DEL	G	TCGA-KV-A6GE-01A-11D-A31X-10	32317426	132211511	38903556	10	44773											
ARHGEF5	7984	hgsc.bcm.edu	37	7	144063479	144063479	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr7:144063479delG	ENST00000056217.5	+	3	3360	c.3186delG	c.(3184-3186)ccgfs	p.P1062fs	ARHGEF5_ENST00000471847.2_5'UTR	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	1062					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)|myeloid dendritic cell chemotaxis (GO:0002408)|positive regulation of podosome assembly (GO:0071803)|regulation of Rho GTPase activity (GO:0032319)		GTP binding (GO:0005525)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					AGAAACATCCGGGACCCTCAG	0.483																																																0													41	40	40					7																	144063479		2196	4273	6469	SO:0001589	frameshift_variant	7984			U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"Rho guanine nucleotide exchange factors"	13209	protein-coding gene	gene with protein product	"transforming immortalized mammary oncogene", "guanine nucleotide regulatory protein TIM"	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.3186delG	chr7.hg19:g.144063479delG	ENSP00000056217:p.Pro1062fs		A6NNJ2|Q6ZML7	Frame_Shift_Del	DEL	ENST00000056217.5	hg19	CCDS34771.1																																																																																				0.483	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349981.1	NM_005435		-	144063479	G	-	144063479	7	5	759	1	0	1	0	1	0	0	0	0	909	1103	39	0	3192	0	ARHGEF5	7	144063479	Frame_Shift_Del	DEL	G	TCGA-KV-A6GE-01A-11D-A31X-10		144063479	15075184	11	44774											
CREB3	57704	hgsc.bcm.edu	37	9	35736272	35736272	+	IGR	SNP	T	T	C			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr9:35736272T>C	ENST00000378103.3	-	0	3611				CREB3_ENST00000486056.1_3'UTR|CREB3_ENST00000353704.2_Missense_Mutation_p.S249P|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)			TATGTACTCCTCTGACACAAG	0.552											OREG0019176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													220	207	211					9																	35736272		2203	4300	6503	SO:0001628	intergenic_variant	10488			AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"bile acid beta-glucosidase", "non-lysosomal glucosylceramidase"	609471	"spastic paraplegia 46 (autosomal recessive)"	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024		chr9.hg19:g.35736272T>C		857	D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Missense_Mutation	SNP	ENST00000378103.3	hg19	CCDS6589.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.018246	0.75275	.	.	ENSG00000107175	ENST00000353704	T	0.67865	-0.29	5.68	4.56	0.56223	.	0.238919	0.43260	D	0.000597	T	0.74068	0.3668	L	0.56769	1.78	0.42787	D	0.993883	D;D	0.76494	0.999;0.996	D;D	0.66196	0.942;0.919	T	0.71394	-0.4606	10	0.26408	T	0.33	.	10.8203	0.46601	0.0:0.0743:0.0:0.9257	.	273;249	O43889;O43889-2	CREB3_HUMAN;.	P	249	ENSP00000342136:S249P	ENSP00000342136:S249P	S	+	1	0	CREB3	35726272	0.999000	0.42202	0.698000	0.30274	0.980000	0.70556	3.862000	0.56009	2.182000	0.69389	0.533000	0.62120	TCT		0.552	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944		C	35736272	T	C	35736272	1	2	759	0	1	0	0	0	0	0	0	0	3857	1551	54	3		3	CREB3	9	35736272	IGR	SNP	T	TCGA-KV-A6GE-01A-11D-A31X-10		35736272	105477159	12	44775											
MAP3K8	1326	hgsc.bcm.edu	37	10	30748425	30748425	+	Missense_Mutation	SNP	T	T	G			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr10:30748425T>G	ENST00000263056.1	+	8	1964	c.1268T>G	c.(1267-1269)aTt>aGt	p.I423S	MAP3K8_ENST00000542547.1_Missense_Mutation_p.I423S|MAP3K8_ENST00000375321.1_Missense_Mutation_p.I423S	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	423			Missing (in oncogenic form).		cell cycle (GO:0007049)|protein phosphorylation (GO:0006468)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				CCTGAGAACATTGCTGGTAGG	0.527																																																0													70	62	65					10																	30748425		2203	4300	6503	SO:0001583	missense	1326			D14497	CCDS7166.1	10p11.2	2011-06-09			ENSG00000107968	ENSG00000107968		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6860	protein-coding gene	gene with protein product		191195		COT, ESTF		2072910, 8479752	Standard	NM_005204		Approved	Tpl-2, EST, c-COT, MEKK8	uc009xlf.2	P41279	OTTHUMG00000017889	ENST00000263056.1:c.1268T>G	chr10.hg19:g.30748425T>G	ENSP00000263056:p.Ile423Ser		A8K2Q5|D3DRX1|Q14275|Q5T855|Q9HC81	Missense_Mutation	SNP	ENST00000263056.1	hg19	CCDS7166.1	.	.	.	.	.	.	.	.	.	.	T	15.81	2.944339	0.53079	.	.	ENSG00000107968	ENST00000375328;ENST00000263056;ENST00000542547;ENST00000375321	T;T;T	0.70749	-0.51;-0.51;-0.51	4.91	4.91	0.64330	Protein kinase-like domain (1);	0.048008	0.85682	D	0.000000	T	0.52517	0.1739	N	0.24115	0.695	0.80722	D	1	P	0.35575	0.51	B	0.32211	0.142	T	0.52638	-0.8549	10	0.08599	T	0.76	.	14.5659	0.68176	0.0:0.0:0.0:1.0	.	423	P41279	M3K8_HUMAN	S	423	ENSP00000263056:I423S;ENSP00000443610:I423S;ENSP00000364470:I423S	ENSP00000263056:I423S	I	+	2	0	MAP3K8	30788431	1.000000	0.71417	0.979000	0.43373	0.850000	0.48378	5.323000	0.65858	1.850000	0.53721	0.519000	0.50382	ATT		0.527	MAP3K8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047416.2	NM_005204		G	30748425	T	G	30748425	3	3	759	1	0	0	0	0	1	0	0	0	9258	1493	52	5	1290	5	MAP3K8	10	30748425	Missense_Mutation	SNP	T	TCGA-KV-A6GE-01A-11D-A31X-10		30748425	104786322	13	44776											
DNHD1	144132	hgsc.bcm.edu	37	11	6592937	6592937	+	Silent	SNP	G	G	T	rs544585664		TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr11:6592937G>T	ENST00000527990.2	+	41	13983	c.13983G>T	c.(13981-13983)gcG>gcT	p.A4661A	DNHD1_ENST00000254579.6_Silent_p.A4661A			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4661					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TCCTACATGCGGAGTGGGACC	0.627																																																0													36	46	43					11																	6592937		2097	4219	6316	SO:0001819	synonymous_variant	144132			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 47", "dynein heavy chain domain 1-like", "coiled-coil domain containing 35"	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.13983G>T	chr11.hg19:g.6592937G>T			Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Silent	SNP	ENST00000527990.2	hg19	CCDS44532.1																																																																																				0.627	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		T	6592937	G	T	6592937	2	4	759	1	0	0	0	0	0	0	0	1	4670	1103	39	4		4	DNHD1	11	6592937	Silent	SNP	G	TCGA-KV-A6GE-01A-11D-A31X-10		6592937	128413579	14	44777											
VSIG10	54621	hgsc.bcm.edu	37	12	118506351	118506351	+	Silent	SNP	C	C	T	rs373328738		TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr12:118506351C>T	ENST00000359236.5	-	8	1674	c.1398G>A	c.(1396-1398)gaG>gaA	p.E466E		NM_019086.5	NP_061959.2	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	466	Glu-rich.					integral component of membrane (GO:0016021)				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						cctcctcctcctcttcctctt	0.458																																																0													96	91	92					12																	118506351		2045	4191	6236	SO:0001819	synonymous_variant	54621				CCDS44992.1	12q24.23	2013-01-29			ENSG00000176834	ENSG00000176834		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	26078	protein-coding gene	gene with protein product						12477932	Standard	NM_019086		Approved		uc001tws.3	Q8N0Z9		ENST00000359236.5:c.1398G>A	chr12.hg19:g.118506351C>T			Q9NWQ7	Silent	SNP	ENST00000359236.5	hg19	CCDS44992.1																																																																																				0.458	VSIG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401273.2	NM_019086		T	118506351	C	T	118506351	2	4	759	1	0	0	0	0	0	0	0	1	17228	680	24	2		2	VSIG10	12	118506351	Silent	SNP	C	TCGA-KV-A6GE-01A-11D-A31X-10		118506351	15345544	15	44778											
PRMT5	10419	hgsc.bcm.edu	37	14	23397402	23397402	+	Missense_Mutation	SNP	A	A	G			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr14:23397402A>G	ENST00000324366.8	-	3	471	c.248T>C	c.(247-249)gTg>gCg	p.V83A	PRMT5_ENST00000553641.1_5'UTR|PRMT5_ENST00000553897.1_Intron|PRMT5-AS1_ENST00000595662.1_RNA|RP11-298I3.1_ENST00000548322.1_RNA|PRMT5_ENST00000216350.8_Intron|PRMT5_ENST00000397440.4_Missense_Mutation_p.V66A|PRMT5_ENST00000397441.2_Missense_Mutation_p.V66A|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5_ENST00000538452.1_5'UTR|RP11-298I3.1_ENST00000548819.1_RNA|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5-AS1_ENST00000599580.2_RNA	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	83	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)		AAGCTTTCCCACAATTAGCGT	0.433																																																0													92	82	85					14																	23397402		2203	4300	6503	SO:0001583	missense	10419			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.248T>C	chr14.hg19:g.23397402A>G	ENSP00000319169:p.Val83Ala		A8MTP3|A8MZ91|B4DX49|B4DY30|B5BU10|D3DS33|E2QRE7|Q6IBR1|Q9UKH1	Missense_Mutation	SNP	ENST00000324366.8	hg19	CCDS9579.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.564340	0.86335	.	.	ENSG00000100462	ENST00000324366;ENST00000397441;ENST00000397440;ENST00000553550;ENST00000554867;ENST00000556616;ENST00000554910;ENST00000421938	.	.	.	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.80534	0.4641	M	0.84683	2.71	0.80722	D	1	D;D;D	0.71674	0.963;0.991;0.998	D;P;D	0.68765	0.959;0.73;0.96	D	0.83988	0.0336	9	0.87932	D	0	-13.1665	14.9141	0.70781	1.0:0.0:0.0:0.0	.	66;83;66	A8MTP3;O14744;A8MZ91	.;ANM5_HUMAN;.	A	83;66;66;83;83;45;41;93	.	ENSP00000319169:V83A	V	-	2	0	PRMT5	22467242	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.199000	0.89731	2.176000	0.68965	0.455000	0.32223	GTG		0.433	PRMT5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071674.3			G	23397402	A	G	23397402	3	3	759	1	0	0	0	0	1	0	0	0	12544	159	6	3	1725	3	PRMT5	14	23397402	Missense_Mutation	SNP	A	TCGA-KV-A6GE-01A-11D-A31X-10		23397402	83952138	16	44779											
PRMT7	54496	hgsc.bcm.edu	37	16	68386313	68386313	+	Splice_Site	SNP	G	G	A			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr16:68386313G>A	ENST00000339507.5	+	15	2405		c.e15+1		PRMT7_ENST00000441236.1_Splice_Site|PRMT7_ENST00000348497.4_Splice_Site|PRMT7_ENST00000449359.3_Splice_Site			Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7						cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|histone arginine methylation (GO:0034969)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	[myelin basic protein]-arginine N-methyltransferase activity (GO:0016277)|histone binding (GO:0042393)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		GGAGTTCAGGGTAGGCCACCC	0.622																																																0													40	38	39					16																	68386313		2198	4300	6498	SO:0001630	splice_region_variant	54496			AK001502	CCDS10866.1, CCDS54033.1	16q22.1	2008-02-05			ENSG00000132600	ENSG00000132600		"Protein arginine methyltransferases"	25557	protein-coding gene	gene with protein product		610087				15044439	Standard	NM_001184824		Approved	FLJ10640, KIAA1933	uc002evy.2	Q9NVM4	OTTHUMG00000137556	ENST00000339507.5:c.1575+1G>A	chr16.hg19:g.68386313G>A			B3KPR0|B3KUG9|B4E379|Q96PV5|Q9H9L0	Splice_Site	SNP	ENST00000339507.5	hg19	CCDS10866.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.947713	0.73787	.	.	ENSG00000132600	ENST00000449359;ENST00000441236;ENST00000348497;ENST00000339507	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9994	0.80280	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PRMT7	66943814	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	9.352000	0.97076	2.392000	0.81423	0.655000	0.94253	.		0.622	PRMT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268892.3	NM_019023	Intron	A	68386313	G	A	68386313	5	1	759	1	0	0	0	0	0	0	1	0	12546	1275	44	2	1626	2	PRMT7	16	68386313	Splice_Site	SNP	G	TCGA-KV-A6GE-01A-11D-A31X-10		68386313	21968440	17	44780											
BLMH	642	hgsc.bcm.edu	37	17	28614937	28614937	+	Missense_Mutation	SNP	G	G	A			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr17:28614937G>A	ENST00000261714.6	-	4	524	c.350C>T	c.(349-351)gCt>gTt	p.A117V	BLMH_ENST00000582669.1_5'Flank|BLMH_ENST00000394819.3_Missense_Mutation_p.A30V|RNU6-1267P_ENST00000410747.1_RNA	NM_000386.3	NP_000377.1	Q13867	BLMH_HUMAN	bleomycin hydrolase	117					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|carboxypeptidase activity (GO:0004180)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1)	13					Bleomycin(DB00290)	GTCCACAAAAGCACTCAAGAA	0.388																																					Pancreas(127;628 1772 12912 33293 36203)											0													88	85	86					17																	28614937		2203	4300	6503	SO:0001583	missense	642			X92106	CCDS32604.1	17q11.2	2004-02-16				ENSG00000108578			1059	protein-coding gene	gene with protein product		602403				9407121, 9331073	Standard	NM_000386		Approved	BH	uc002hez.2	Q13867		ENST00000261714.6:c.350C>T	chr17.hg19:g.28614937G>A	ENSP00000261714:p.Ala117Val		B2R796|Q53F86|Q9UER9	Missense_Mutation	SNP	ENST00000261714.6	hg19	CCDS32604.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.769945	0.69992	.	.	ENSG00000108578	ENST00000261714;ENST00000394819	T;T	0.44881	0.91;0.91	5.95	5.95	0.96441	.	0.197192	0.52532	D	0.000067	T	0.45637	0.1352	M	0.63208	1.945	0.51233	D	0.999918	B;B	0.23540	0.087;0.036	B;B	0.25759	0.063;0.039	T	0.31530	-0.9940	10	0.49607	T	0.09	-8.7167	17.5491	0.87871	0.0:0.0:1.0:0.0	.	30;117	E7EMN3;Q13867	.;BLMH_HUMAN	V	117;30	ENSP00000261714:A117V;ENSP00000378296:A30V	ENSP00000261714:A117V	A	-	2	0	BLMH	25639063	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.945000	0.63568	2.824000	0.97209	0.655000	0.94253	GCT		0.388	BLMH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447940.1	NM_000386		A	28614937	G	A	28614937	3	1	759	1	0	0	0	0	1	0	0	0	1446	971	34	2	1053	2	BLMH	17	28614937	Missense_Mutation	SNP	G	TCGA-KV-A6GE-01A-11D-A31X-10		28614937	52580273	18	44781											
ZNF677	342926	hgsc.bcm.edu	37	19	53740610	53740610	+	Missense_Mutation	SNP	T	T	C			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr19:53740610T>C	ENST00000598513.1	-	5	1520	c.1370A>G	c.(1369-1371)aAa>aGa	p.K457R	ZNF677_ENST00000333952.4_Missense_Mutation_p.K457R	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	457					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|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)		TTTGTAAGGTTTTTCTCCAGT	0.378																																																0													54	52	53					19																	53740610		2203	4300	6503	SO:0001583	missense	342926			BC050038	CCDS12861.1	19q13.42	2013-01-08				ENSG00000197928		"Zinc fingers, C2H2-type", "-"	28730	protein-coding gene	gene with protein product	"hypothetical protein MGC48625"					12477932	Standard	NM_182609		Approved	MGC48625	uc002qbg.1	Q86XU0		ENST00000598513.1:c.1370A>G	chr19.hg19:g.53740610T>C	ENSP00000469391:p.Lys457Arg			Missense_Mutation	SNP	ENST00000598513.1	hg19	CCDS12861.1	.	.	.	.	.	.	.	.	.	.	T	16.82	3.227295	0.58668	.	.	ENSG00000197928	ENST00000333952	T	0.24908	1.83	2.21	1.14	0.20703	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37393	N	0.002104	T	0.26085	0.0636	N	0.13272	0.32	0.25071	N	0.990998	D	0.67145	0.996	D	0.69142	0.962	T	0.05194	-1.0900	10	0.72032	D	0.01	.	6.5871	0.22626	0.0:0.0:0.2456:0.7543	.	457	Q86XU0	ZN677_HUMAN	R	457	ENSP00000334394:K457R	ENSP00000334394:K457R	K	-	2	0	ZNF677	58432422	0.880000	0.30214	0.998000	0.56505	0.997000	0.91878	0.417000	0.21214	0.277000	0.22141	0.533000	0.62120	AAA		0.378	ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464189.1	NM_182609		C	53740610	T	C	53740610	3	2	759	1	0	0	0	0	1	0	0	0	18089	1841	64	3	388	3	ZNF677	19	53740610	Missense_Mutation	SNP	T	TCGA-KV-A6GE-01A-11D-A31X-10		53740610	5388373	19	44782											
ZNF814	730051	hgsc.bcm.edu	37	19	58385790	58385790	+	Missense_Mutation	SNP	G	G	T	rs111727691		TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr19:58385790G>T	ENST00000435989.2	-	3	1202	c.968C>A	c.(967-969)cCt>cAt	p.P323H	ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	323					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ACATTCATAAGGTCTTTTCCC	0.358																																																0													15	12	13					19																	58385790		688	1563	2251	SO:0001583	missense	730051				CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.968C>A	chr19.hg19:g.58385790G>T	ENSP00000410545:p.Pro323His		A6NF35	Missense_Mutation	SNP	ENST00000435989.2	hg19	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	8.139	0.784825	0.16189	.	.	ENSG00000204514	ENST00000435989	T	0.29397	1.57	2.27	1.18	0.20946	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.57080	0.2029	M	0.90019	3.08	0.20764	N	0.999853	D	0.89917	1.0	D	0.67231	0.95	T	0.46247	-0.9205	9	0.66056	D	0.02	.	9.258	0.37595	0.0:0.0:0.7811:0.2189	.	323	B7Z6K7	ZN814_HUMAN	H	323	ENSP00000410545:P323H	ENSP00000410545:P323H	P	-	2	0	ZNF814	63077602	0.000000	0.05858	0.028000	0.17463	0.016000	0.09150	-0.439000	0.06897	0.330000	0.23485	-1.407000	0.01130	CCT		0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		T	58385790	G	T	58385790	3	4	759	1	0	0	0	0	1	0	0	0	18181	1000	35	4	1603	4	ZNF814	19	58385790	Missense_Mutation	SNP	G	TCGA-KV-A6GE-01A-11D-A31X-10	4645180	58385790	743193	20	44783	475	2									
ZNF814	730051	hgsc.bcm.edu	37	19	58385793	58385793	+	Missense_Mutation	SNP	C	C	T	rs113623532		TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr19:58385793C>T	ENST00000435989.2	-	3	1199	c.965G>A	c.(964-966)aGa>aAa	p.R322K	ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	322					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						TTCATAAGGTCTTTTCCCAGT	0.358																																																0													15	12	13					19																	58385793		687	1562	2249	SO:0001583	missense	730051				CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.965G>A	chr19.hg19:g.58385793C>T	ENSP00000410545:p.Arg322Lys		A6NF35	Missense_Mutation	SNP	ENST00000435989.2	hg19	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	0.023	-1.395361	0.01175	.	.	ENSG00000204514	ENST00000435989	T	0.12361	2.69	2.27	9.47E-4	0.14044	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03608	0.0103	N	0.02225	-0.63	0.09310	N	0.999999	B	0.29301	0.241	B	0.28916	0.096	T	0.40534	-0.9558	9	0.02654	T	1	.	4.6969	0.12808	0.0:0.4166:0.0:0.5834	.	322	B7Z6K7	ZN814_HUMAN	K	322	ENSP00000410545:R322K	ENSP00000410545:R322K	R	-	2	0	ZNF814	63077605	0.000000	0.05858	0.024000	0.17045	0.009000	0.06853	-1.883000	0.01623	0.331000	0.23511	-1.381000	0.01174	AGA		0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		T	58385793	C	T	58385793	3	4	759	1	0	0	0	0	1	0	0	0	18181	913	32	2	1606	2	ZNF814	19	58385793	Missense_Mutation	SNP	C	TCGA-KV-A6GE-01A-11D-A31X-10	3	58385793	743190	21	44784	475	2									
TRAPPC10	7109	hgsc.bcm.edu	37	21	45502876	45502876	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KV-A6GE-01A-11D-A31X-10	TCGA-KV-A6GE-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aff18e57-af36-44a3-8a58-5c8633a7ae20	24f06120-19b5-449d-88bf-45b846e314f7	g.chr21:45502876G>A	ENST00000291574.4	+	14	2106	c.1931G>A	c.(1930-1932)tGg>tAg	p.W644*		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	644					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						ACTGCGGAGTGGCTTACCAAG	0.512																																																0													162	150	154					21																	45502876		2203	4300	6503	SO:0001587	stop_gained	7109			U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"Trafficking protein particle complex"	11868	protein-coding gene	gene with protein product	"trafficking protein particle complex subunit 130", "TRAPP 130 kDa subunit"	602103	"transmembrane protein 1"	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.1931G>A	chr21.hg19:g.45502876G>A	ENSP00000291574:p.Trp644*		Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Nonsense_Mutation	SNP	ENST00000291574.4	hg19	CCDS13704.1	.	.	.	.	.	.	.	.	.	.	G	38	7.254018	0.98168	.	.	ENSG00000160218	ENST00000291574	.	.	.	5.58	5.58	0.84498	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	19.1791	0.93615	0.0:0.0:1.0:0.0	.	.	.	.	X	644	.	ENSP00000291574:W644X	W	+	2	0	TRAPPC10	44327304	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	5.397000	0.66302	2.622000	0.88805	0.655000	0.94253	TGG		0.512	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1	NM_003274		A	45502876	G	A	45502876	4	1	759	1	0	0	0	0	0	1	0	0	16462	1357	47	2	1985	2	TRAPPC10	21	45502876	Nonsense_Mutation	SNP	G	TCGA-KV-A6GE-01A-11D-A31X-10		45502876	2627019	22	44785											
LRP1B	53353	hgsc.bcm.edu	37	2	141122239	141122239	+	Missense_Mutation	SNP	C	C	A	rs200747526	byFrequency	TCGA-KV-A74V-01A-11D-A33Q-10	TCGA-KV-A74V-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	df25a569-f993-4bbe-9766-cdc2a7c40750	9a716ea4-aa7c-4d1a-b9ec-9fb71edb7024	g.chr2:141122239C>A	ENST00000389484.3	-	72	12093	c.11122G>T	c.(11122-11124)Gat>Tat	p.D3708Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3708	LDL-receptor class A 30. {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)		CCACACATATCAGGGGCTTCA	0.443										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)											0													97	94	95					2																	141122239		2203	4300	6503	SO:0001583	missense	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.11122G>T	chr2.hg19:g.141122239C>A	ENSP00000374135:p.Asp3708Tyr		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	hg19	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.430671	0.62844	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.87571	-2.27	5.48	5.48	0.80851	.	0.124779	0.52532	D	0.000065	D	0.87569	0.6210	N	0.19112	0.55	0.53005	D	0.999963	P	0.45474	0.859	P	0.55455	0.776	D	0.88303	0.2951	10	0.54805	T	0.06	.	19.711	0.96096	0.0:1.0:0.0:0.0	.	3708	Q9NZR2	LRP1B_HUMAN	Y	3708;3646	ENSP00000374135:D3708Y	ENSP00000374135:D3708Y	D	-	1	0	LRP1B	140838709	1.000000	0.71417	0.994000	0.49952	0.984000	0.73092	4.566000	0.60843	2.726000	0.93360	0.655000	0.94253	GAT		0.443	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		A	141122239	C	A	141122239	3	1	760	1	0	0	0	0	1	0	0	0	8957	826	29	4	2757	4	LRP1B	2	141122239	Missense_Mutation	SNP	C	TCGA-KV-A74V-01A-11D-A33Q-10		141122239	102077134	1	44786											
DHRS9	10170	hgsc.bcm.edu	37	2	169952139	169952139	+	Missense_Mutation	SNP	T	T	G			TCGA-KV-A74V-01A-11D-A33Q-10	TCGA-KV-A74V-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	df25a569-f993-4bbe-9766-cdc2a7c40750	9a716ea4-aa7c-4d1a-b9ec-9fb71edb7024	g.chr2:169952139T>G	ENST00000327239.4	+	8	2326	c.822T>G	c.(820-822)agT>agG	p.S274R	DHRS9_ENST00000428522.1_Missense_Mutation_p.S274R|DHRS9_ENST00000602501.1_Missense_Mutation_p.S274R|DHRS9_ENST00000436483.2_Missense_Mutation_p.S274R|DHRS9_ENST00000357546.2_Missense_Mutation_p.S274R|DHRS9_ENST00000432060.2_Missense_Mutation_p.S334R|DHRS9_ENST00000412271.1_Missense_Mutation_p.S274R|DHRS9_ENST00000421653.1_Missense_Mutation_p.S127R	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9	274					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						CTCTAACAAGTCTCTTCCCTA	0.428																																																0													143	137	139					2																	169952139		2203	4300	6503	SO:0001583	missense	10170			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.822T>G	chr2.hg19:g.169952139T>G	ENSP00000316670:p.Ser274Arg		B7Z416|D3DPC1|Q5RKX1|Q9NRA9|Q9NRB0	Missense_Mutation	SNP	ENST00000327239.4	hg19	CCDS2231.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.239485	0.79800	.	.	ENSG00000073737	ENST00000327239;ENST00000357546;ENST00000432060;ENST00000428522;ENST00000421653;ENST00000436483;ENST00000412271	D;D;D;D;D;D;D	0.85258	-1.96;-1.96;-1.96;-1.96;-1.96;-1.96;-1.96	5.93	3.6	0.41247	NAD(P)-binding domain (1);	0.083052	0.85682	D	0.000000	D	0.91436	0.7297	M	0.89353	3.025	0.43683	D	0.996124	D;D	0.76494	0.999;0.998	D;D	0.72338	0.969;0.977	D	0.90197	0.4254	10	0.56958	D	0.05	.	6.2354	0.20760	0.0:0.3359:0.0:0.6641	.	334;274	B7Z416;Q9BPW9	.;DHRS9_HUMAN	R	274;274;334;274;127;274;274	ENSP00000316670:S274R;ENSP00000350154:S274R;ENSP00000389241:S334R;ENSP00000388564:S274R;ENSP00000388066:S127R;ENSP00000407167:S274R;ENSP00000407747:S274R	ENSP00000316670:S274R	S	+	3	2	DHRS9	169660385	0.908000	0.30866	1.000000	0.80357	0.991000	0.79684	1.156000	0.31712	1.081000	0.41110	0.533000	0.62120	AGT		0.428	DHRS9-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333612.3	NM_005771		G	169952139	T	G	169952139	3	3	760	1	0	0	0	0	1	0	0	0	4500	1664	58	5	836	5	DHRS9	2	169952139	Missense_Mutation	SNP	T	TCGA-KV-A74V-01A-11D-A33Q-10	28829900	169952139	73247234	2	44787											
TTLL4	9654	hgsc.bcm.edu	37	2	219617904	219617904	+	Missense_Mutation	SNP	C	C	A			TCGA-KV-A74V-01A-11D-A33Q-10	TCGA-KV-A74V-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	df25a569-f993-4bbe-9766-cdc2a7c40750	9a716ea4-aa7c-4d1a-b9ec-9fb71edb7024	g.chr2:219617904C>A	ENST00000392102.1	+	18	3594	c.3254C>A	c.(3253-3255)cCa>cAa	p.P1085Q	TTLL4_ENST00000457313.1_Missense_Mutation_p.P920Q|TTLL4_ENST00000442769.1_Missense_Mutation_p.P1021Q|TTLL4_ENST00000258398.4_Missense_Mutation_p.P1085Q	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	1085					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)		GATTCTGCTCCAGTGGTGAGT	0.537																																					GBM(172;1818 2053 15407 20943 49753)											0													201	188	193					2																	219617904		2203	4300	6503	SO:0001583	missense	9654				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.3254C>A	chr2.hg19:g.219617904C>A	ENSP00000375951:p.Pro1085Gln		A8K6V5|Q8WW29	Missense_Mutation	SNP	ENST00000392102.1	hg19	CCDS2422.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.48|12.48	1.950870|1.950870	0.34471|0.34471	.|.	.|.	ENSG00000135912|ENSG00000135912	ENST00000457313;ENST00000392102;ENST00000442769;ENST00000258398|ENST00000417855	T;T;T;T|.	0.03982|.	3.95;4.16;3.74;4.16|.	5.17|5.17	5.17|5.17	0.71159|0.71159	.|.	0.860350|.	0.10371|.	N|.	0.682880|.	T|T	0.57858|0.57858	0.2082|0.2082	L|L	0.43701|0.43701	1.375|1.375	0.39078|0.39078	D|D	0.960852|0.960852	B;B;P|.	0.40834|.	0.085;0.158;0.73|.	B;B;B|.	0.35550|.	0.017;0.031;0.205|.	T|T	0.56432|0.56432	-0.7980|-0.7980	10|5	0.12430|.	T|.	0.62|.	.|.	11.2543|11.2543	0.49045|0.49045	0.1951:0.8049:0.0:0.0|0.1951:0.8049:0.0:0.0	.|.	920;1021;1085|.	E9PH58;E7EX20;Q14679|.	.;.;TTLL4_HUMAN|.	Q|K	920;1085;1021;1085|109	ENSP00000393332:P920Q;ENSP00000375951:P1085Q;ENSP00000396555:P1021Q;ENSP00000258398:P1085Q|.	ENSP00000258398:P1085Q|.	P|Q	+|+	2|1	0|0	TTLL4|TTLL4	219326148|219326148	0.819000|0.819000	0.29175|0.29175	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	2.040000|2.040000	0.41203|0.41203	2.683000|2.683000	0.91414|0.91414	0.655000|0.655000	0.94253|0.94253	CCA|CAG		0.537	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256726.1	NM_014640		A	219617904	C	A	219617904	3	1	760	1	0	0	0	0	1	0	0	0	16734	594	21	4	3316	4	TTLL4	2	219617904	Missense_Mutation	SNP	C	TCGA-KV-A74V-01A-11D-A33Q-10	49665765	219617904	23581469	3	44788											
LYAR	55646	hgsc.bcm.edu	37	4	4270271	4270271	+	Nonsense_Mutation	SNP	T	T	A			TCGA-KV-A74V-01A-11D-A33Q-10	TCGA-KV-A74V-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	df25a569-f993-4bbe-9766-cdc2a7c40750	9a716ea4-aa7c-4d1a-b9ec-9fb71edb7024	g.chr4:4270271T>A	ENST00000343470.4	-	9	1231	c.991A>T	c.(991-993)Aag>Tag	p.K331*	LYAR_ENST00000452476.1_Nonsense_Mutation_p.K331*	NM_017816.2	NP_060286	Q9NX58	LYAR_HUMAN	Ly1 antibody reactive	331	Lys-rich.					nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1)	17				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TTCCTTAGCTTTTTGATGGTT	0.318																																																0													222	211	215					4																	4270271		2203	4300	6503	SO:0001587	stop_gained	55646			AL136750	CCDS3374.1	4p16.3	2013-01-10	2012-12-07		ENSG00000145220	ENSG00000145220		"Zinc fingers, C2HC-type containing"	26021	protein-coding gene	gene with protein product			"Ly1 antibody reactive homolog (mouse)"			11230166, 8491376	Standard	NM_001145725		Approved	ZC2HC2, ZLYAR	uc003ght.3	Q9NX58	OTTHUMG00000125477	ENST00000343470.4:c.991A>T	chr4.hg19:g.4270271T>A	ENSP00000345917:p.Lys331*		D3DVS4|Q6FI78|Q9NYS1	Nonsense_Mutation	SNP	ENST00000343470.4	hg19	CCDS3374.1	.	.	.	.	.	.	.	.	.	.	T	39	7.639047	0.98406	.	.	ENSG00000145220	ENST00000343470;ENST00000452476	.	.	.	5.93	5.93	0.95920	.	0.088101	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-35.5133	16.0564	0.80809	0.0:0.0:0.0:1.0	.	.	.	.	X	331	.	ENSP00000345917:K331X	K	-	1	0	LYAR	4321172	1.000000	0.71417	0.989000	0.46669	0.871000	0.50021	6.068000	0.71201	2.271000	0.75665	0.459000	0.35465	AAG		0.318	LYAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246800.2	NM_017816		A	4270271	T	A	4270271	4	1	760	1	0	0	0	0	0	1	0	0	9105	1850	64	5	156	5	LYAR	4	4270271	Nonsense_Mutation	SNP	T	TCGA-KV-A74V-01A-11D-A33Q-10		4270271	186884005	4	44789											
SULT1B1	27284	hgsc.bcm.edu	37	4	70620844	70620844	+	Missense_Mutation	SNP	A	A	G			TCGA-KV-A74V-01A-11D-A33Q-10	TCGA-KV-A74V-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	df25a569-f993-4bbe-9766-cdc2a7c40750	9a716ea4-aa7c-4d1a-b9ec-9fb71edb7024	g.chr4:70620844A>G	ENST00000310613.3	-	2	389	c.92T>C	c.(91-93)aTt>aCt	p.I31T		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	31					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						GAACTGTTCAATTTTTTCCCA	0.408																																																0													153	149	151					4																	70620844		2203	4300	6503	SO:0001583	missense	27284			D89479	CCDS3530.1	4q13.3	2008-02-05			ENSG00000173597	ENSG00000173597		"Sulfotransferases, cytosolic"	17845	protein-coding gene	gene with protein product		608436				11688987, 9443824	Standard	NM_014465		Approved	ST1B2	uc003hen.3	O43704	OTTHUMG00000129407	ENST00000310613.3:c.92T>C	chr4.hg19:g.70620844A>G	ENSP00000308770:p.Ile31Thr		O15497|Q96FI1|Q9UK34	Missense_Mutation	SNP	ENST00000310613.3	hg19	CCDS3530.1	.	.	.	.	.	.	.	.	.	.	A	14.36	2.511687	0.44660	.	.	ENSG00000173597	ENST00000310613;ENST00000510821;ENST00000512870	T;T;T	0.01918	4.56;4.56;4.56	4.97	2.53	0.30540	.	0.374774	0.22569	N	0.058373	T	0.02380	0.0073	N	0.08118	0	0.09310	N	1	B	0.32939	0.391	P	0.46758	0.526	T	0.44544	-0.9321	10	0.62326	D	0.03	.	6.2024	0.20583	0.73:0.1821:0.0879:0.0	.	31	O43704	ST1B1_HUMAN	T	31;31;12	ENSP00000308770:I31T;ENSP00000425464:I31T;ENSP00000427536:I12T	ENSP00000308770:I31T	I	-	2	0	SULT1B1	70655433	0.070000	0.21116	0.000000	0.03702	0.011000	0.07611	3.739000	0.55075	0.329000	0.23460	0.482000	0.46254	ATT		0.408	SULT1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251563.2	NM_014465		G	70620844	A	G	70620844	3	3	760	1	0	0	0	0	1	0	0	0	15381	101	4	3	826	3	SULT1B1	4	70620844	Missense_Mutation	SNP	A	TCGA-KV-A74V-01A-11D-A33Q-10	66350573	70620844	120533432	5	44790											
AFF1	4299	hgsc.bcm.edu	37	4	88048262	88048262	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KV-A74V-01A-11D-A33Q-10	TCGA-KV-A74V-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	df25a569-f993-4bbe-9766-cdc2a7c40750	9a716ea4-aa7c-4d1a-b9ec-9fb71edb7024	g.chr4:88048262delT	ENST00000307808.6	+	14	3295	c.2875delT	c.(2875-2877)tttfs	p.F959fs	AFF1_ENST00000395146.4_Frame_Shift_Del_p.F966fs|AFF1_ENST00000544085.1_Frame_Shift_Del_p.F597fs	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	959					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		TCAAGTGAAGTTTGACAAGTA	0.438																																																0													111	114	113					4																	88048262		2203	4300	6503	SO:0001589	frameshift_variant	4299			L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2", "pre-B-cell monocytic leukemia partner 1"	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.2875delT	chr4.hg19:g.88048262delT	ENSP00000305689:p.Phe959fs		B4DTU1|E9PBM3	Frame_Shift_Del	DEL	ENST00000307808.6	hg19	CCDS3616.1																																																																																				0.438	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	NM_005935		-	88048262	T	-	88048262	7	5	760	1	0	1	0	1	0	0	0	0	356	1725	60	0	2971	0	AFF1	4	88048262	Frame_Shift_Del	DEL	T	TCGA-KV-A74V-01A-11D-A33Q-10	17427418	88048262	103106014	6	44791											
ATOH1	474	hgsc.bcm.edu	37	4	94750489	94750489	+	Missense_Mutation	SNP	G	G	T			TCGA-KV-A74V-01A-11D-A33Q-10	TCGA-KV-A74V-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	df25a569-f993-4bbe-9766-cdc2a7c40750	9a716ea4-aa7c-4d1a-b9ec-9fb71edb7024	g.chr4:94750489G>T	ENST00000306011.3	+	1	448	c.412G>T	c.(412-414)Gac>Tac	p.D138Y		NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN	atonal homolog 1 (Drosophila)	138					auditory receptor cell fate determination (GO:0042668)|auditory receptor cell fate specification (GO:0042667)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|cerebral cortex development (GO:0021987)|inner ear morphogenesis (GO:0042472)|negative regulation of apoptotic process (GO:0043066)|neuron migration (GO:0001764)|positive regulation of auditory receptor cell differentiation (GO:0045609)|positive regulation of neuron differentiation (GO:0045666)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|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(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		GGTGGTGGTAGACGAGCTGGG	0.667																																																0													30	40	37					4																	94750489		2203	4299	6502	SO:0001583	missense	474			U61148	CCDS3638.1	4q22	2013-05-21			ENSG00000172238	ENSG00000172238		"Basic helix-loop-helix proteins"	797	protein-coding gene	gene with protein product		601461				8872459	Standard	NM_005172		Approved	HATH1, MATH-1, Math1, bHLHa14	uc003hta.1	Q92858	OTTHUMG00000130972	ENST00000306011.3:c.412G>T	chr4.hg19:g.94750489G>T	ENSP00000302216:p.Asp138Tyr		Q14CT9	Missense_Mutation	SNP	ENST00000306011.3	hg19	CCDS3638.1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.238517	0.22711	.	.	ENSG00000172238	ENST00000306011	D	0.97752	-4.52	4.27	4.27	0.50696	.	0.421469	0.22988	N	0.053226	D	0.93789	0.8014	N	0.19112	0.55	0.27027	N	0.964335	P	0.39576	0.679	B	0.37833	0.259	D	0.90439	0.4430	10	0.62326	D	0.03	-14.0929	12.1655	0.54127	0.0:0.0:1.0:0.0	.	138	Q92858	ATOH1_HUMAN	Y	138	ENSP00000302216:D138Y	ENSP00000302216:D138Y	D	+	1	0	ATOH1	94969512	1.000000	0.71417	0.923000	0.36655	0.915000	0.54546	4.756000	0.62205	2.229000	0.72834	0.543000	0.68304	GAC		0.667	ATOH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253585.1	NM_005172		T	94750489	G	T	94750489	3	4	760	1	0	0	0	0	1	0	0	0	1112	942	33	4	414	4	ATOH1	4	94750489	Missense_Mutation	SNP	G	TCGA-KV-A74V-01A-11D-A33Q-10	6702227	94750489	96403787	7	44792											
ARHGEF38	54848	hgsc.bcm.edu	37	4	106473951	106473951	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KV-A74V-01A-11D-A33Q-10	TCGA-KV-A74V-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	df25a569-f993-4bbe-9766-cdc2a7c40750	9a716ea4-aa7c-4d1a-b9ec-9fb71edb7024	g.chr4:106473951delA	ENST00000420470.2	+	1	173	c.29delA	c.(28-30)gaafs	p.E10fs	ARHGEF38_ENST00000265154.2_Frame_Shift_Del_p.E10fs|AC004066.3_ENST00000514879.1_RNA	NM_001242729.1	NP_001229658.1	Q9NXL2	ARH38_HUMAN	Rho guanine nucleotide exchange factor (GEF) 38	10						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(3)	11						ACTGGGAAAGAAAACATGGTC	0.473																																																0													87	85	86					4																	106473951		2203	4300	6503	SO:0001589	frameshift_variant	54848			AK000191	CCDS3670.1, CCDS56338.1	4q24	2012-07-24			ENSG00000236699	ENSG00000236699		"Rho guanine nucleotide exchange factors"	25968	protein-coding gene	gene with protein product							Standard	NM_001242729		Approved	FLJ20184	uc003hxv.2	Q9NXL2	OTTHUMG00000154752	ENST00000420470.2:c.29delA	chr4.hg19:g.106473951delA	ENSP00000416125:p.Glu10fs		C9JIB4	Frame_Shift_Del	DEL	ENST00000420470.2	hg19	CCDS56338.1																																																																																				0.473	ARHGEF38-001	PUTATIVE	basic|appris_principal|readthrough_transcript|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000336934.3	NM_017700		-	106473951	A	-	106473951	7	5	760	1	0	1	0	1	0	0	0	0	907	246	9	0	31	0	ARHGEF38	4	106473951	Frame_Shift_Del	DEL	A	TCGA-KV-A74V-01A-11D-A33Q-10	11723462	106473951	84680325	8	44793											
LPL	4023	hgsc.bcm.edu	37	8	19813385	19813385	+	Missense_Mutation	SNP	G	G	A	rs118204062		TCGA-KV-A74V-01A-11D-A33Q-10	TCGA-KV-A74V-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	df25a569-f993-4bbe-9766-cdc2a7c40750	9a716ea4-aa7c-4d1a-b9ec-9fb71edb7024	g.chr8:19813385G>A	ENST00000311322.8	+	6	1279	c.809G>A	c.(808-810)cGc>cAc	p.R270H		NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	270			R -> C (in LPL deficiency). {ECO:0000269|PubMed:15256764, ECO:0000269|PubMed:7906986, ECO:0000269|PubMed:8778602, ECO:0000269|PubMed:9279761}.|R -> H (in LPL deficiency; loss of activity). {ECO:0000269|PubMed:15256764, ECO:0000269|PubMed:1619366, ECO:0000269|PubMed:1702428, ECO:0000269|PubMed:1752947, ECO:0000269|PubMed:7906986, ECO:0000269|PubMed:9714430}.		chylomicron remodeling (GO:0034371)|fatty acid biosynthetic process (GO:0006633)|lipoprotein metabolic process (GO:0042157)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of sequestering of triglyceride (GO:0010890)|response to cold (GO:0009409)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle remodeling (GO:0034372)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phospholipase activity (GO:0004620)|receptor binding (GO:0005102)|triglyceride binding (GO:0017129)|triglyceride lipase activity (GO:0004806)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	AST-120(DB05269)|Tyloxapol(DB06439)	TCCCACGAGCGCTCCATTCAT	0.458																																																0			GRCh37	CM910265|CM962613	LPL	M	rs118204062						93	95	94					8																	19813385		2203	4300	6503	SO:0001583	missense	4023				CCDS6012.1	8p22	2012-10-02			ENSG00000175445	ENSG00000175445	3.1.1.34		6677	protein-coding gene	gene with protein product		609708		LIPD			Standard	NM_000237		Approved		uc003wzk.4	P06858	OTTHUMG00000036645	ENST00000311322.8:c.809G>A	chr8.hg19:g.19813385G>A	ENSP00000309757:p.Arg270His		B2R5T9|Q16282|Q16283|Q96FC4	Missense_Mutation	SNP	ENST00000311322.8	hg19	CCDS6012.1	.	.	.	.	.	.	.	.	.	.	G	35	5.534310	0.96460	.	.	ENSG00000175445	ENST00000311322;ENST00000538071;ENST00000535763	D	0.97209	-4.29	6.07	6.07	0.98685	Lipase, N-terminal (1);	0.043982	0.85682	N	0.000000	D	0.98570	0.9522	M	0.85630	2.765	0.41185	D	0.986265	D	0.89917	1.0	D	0.97110	1.0	D	0.98779	1.0731	8	.	.	.	-20.7835	18.2083	0.89861	0.0:0.0:1.0:0.0	.	270	P06858	LIPL_HUMAN	H	270;194;256	ENSP00000309757:R270H	.	R	+	2	0	LPL	19857665	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	9.807000	0.99171	2.902000	0.99343	0.650000	0.86243	CGC		0.458	LPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089113.3			A	19813385	G	A	19813385	3	1	760	1	0	0	0	0	1	0	0	0	8923	1087	38	1	831	1	LPL	8	19813385	Missense_Mutation	SNP	G	TCGA-KV-A74V-01A-11D-A33Q-10		19813385	126550637	9	44794											
ZFAND1	79752	hgsc.bcm.edu	37	8	82615255	82615255	+	Missense_Mutation	SNP	A	A	T			TCGA-KV-A74V-01A-11D-A33Q-10	TCGA-KV-A74V-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	df25a569-f993-4bbe-9766-cdc2a7c40750	9a716ea4-aa7c-4d1a-b9ec-9fb71edb7024	g.chr8:82615255A>T	ENST00000220669.5	-	7	603	c.585T>A	c.(583-585)ttT>ttA	p.F195L	ZFAND1_ENST00000519523.1_Missense_Mutation_p.F195L|ZFAND1_ENST00000521895.1_Missense_Mutation_p.F88L|ZFAND1_ENST00000517588.1_Missense_Mutation_p.F88L|ZFAND1_ENST00000523096.1_Missense_Mutation_p.F188L|ZFAND1_ENST00000519338.1_5'UTR|ZFAND1_ENST00000521287.1_Missense_Mutation_p.F88L|ZFAND1_ENST00000522520.1_Missense_Mutation_p.F88L	NM_024699.2	NP_078975.2	Q8TCF1	ZFAN1_HUMAN	zinc finger, AN1-type domain 1	195							zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						GAGAAGCGGCAAAGTCTATGG	0.338																																																0													28	24	26					8																	82615255		2201	4300	6501	SO:0001583	missense	79752				CCDS6232.1, CCDS55250.1, CCDS55251.1	8q21.13	2006-07-07						"Zinc fingers, AN1-type domain containing"	25858	protein-coding gene	gene with protein product						12477932	Standard	NM_024699		Approved	FLJ14007	uc003ycj.2	Q8TCF1		ENST00000220669.5:c.585T>A	chr8.hg19:g.82615255A>T	ENSP00000220669:p.Phe195Leu		E5RIG0|E5RJ99|Q658R7|Q6IA32|Q6PGQ6|Q9H810	Missense_Mutation	SNP	ENST00000220669.5	hg19	CCDS6232.1	.	.	.	.	.	.	.	.	.	.	A	7.672	0.687266	0.14973	.	.	ENSG00000104231	ENST00000523096;ENST00000220669;ENST00000522520;ENST00000521895;ENST00000521287;ENST00000520635;ENST00000517588;ENST00000519523;ENST00000520604	.	.	.	5.83	-0.666	0.11399	.	0.284392	0.41097	D	0.000944	T	0.39708	0.1088	L	0.33137	0.985	0.41542	D	0.988525	B;B	0.21905	0.062;0.062	B;B	0.21546	0.024;0.035	T	0.13388	-1.0511	9	0.15952	T	0.53	.	10.4054	0.44254	0.7039:0.0:0.2961:0.0	.	188;195	E5RIG0;Q8TCF1	.;ZFAN1_HUMAN	L	188;195;88;88;88;88;88;195;88	.	ENSP00000220669:F195L	F	-	3	2	ZFAND1	82777810	0.829000	0.29322	0.165000	0.22776	0.449000	0.32228	0.912000	0.28597	-0.326000	0.08564	0.477000	0.44152	TTT		0.338	ZFAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379739.1	NM_024699		T	82615255	A	T	82615255	3	4	760	1	0	0	0	0	1	0	0	0	17631	127	5	5	277	5	ZFAND1	8	82615255	Missense_Mutation	SNP	A	TCGA-KV-A74V-01A-11D-A33Q-10	62801870	82615255	63748767	10	44795											
PSD	5662	hgsc.bcm.edu	37	10	104173691	104173691	+	Missense_Mutation	SNP	G	G	T			TCGA-KV-A74V-01A-11D-A33Q-10	TCGA-KV-A74V-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	df25a569-f993-4bbe-9766-cdc2a7c40750	9a716ea4-aa7c-4d1a-b9ec-9fb71edb7024	g.chr10:104173691G>T	ENST00000020673.5	-	5	1914	c.1388C>A	c.(1387-1389)cCt>cAt	p.P463H	PSD_ENST00000492902.2_5'Flank|PSD_ENST00000406432.1_Missense_Mutation_p.P463H	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	463	Pro-rich.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		CGGTTCAAGAGGGGCAAGTGG	0.667																																																0													38	45	43					10																	104173691		2203	4299	6502	SO:0001583	missense	5662			X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"Pleckstrin homology (PH) domain containing"	9507	protein-coding gene	gene with protein product		602327	"pleckstrin and Sec7 domain protein"			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.1388C>A	chr10.hg19:g.104173691G>T	ENSP00000020673:p.Pro463His		B1AKX7|D3DR87|Q15673|Q8IVG0	Missense_Mutation	SNP	ENST00000020673.5	hg19	CCDS31272.1	.	.	.	.	.	.	.	.	.	.	G	10.87	1.472957	0.26423	.	.	ENSG00000059915	ENST00000020673;ENST00000541902;ENST00000406432	T;T	0.44482	0.92;0.92	4.65	2.76	0.32466	.	0.402362	0.25006	N	0.033862	T	0.19208	0.0461	N	0.08118	0	0.29532	N	0.85272	B	0.25609	0.13	B	0.17098	0.017	T	0.09530	-1.0670	10	0.41790	T	0.15	.	5.7397	0.18087	0.1616:0.0:0.587:0.2514	.	463	A5PKW4	PSD1_HUMAN	H	463;366;463	ENSP00000020673:P463H;ENSP00000384830:P463H	ENSP00000020673:P463H	P	-	2	0	PSD	104163681	0.999000	0.42202	0.798000	0.32154	0.751000	0.42716	1.776000	0.38594	0.390000	0.25115	0.456000	0.33151	CCT		0.667	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050041.2			T	104173691	G	T	104173691	3	4	760	1	0	0	0	0	1	0	0	0	12651	1000	35	4	1738	4	PSD	10	104173691	Missense_Mutation	SNP	G	TCGA-KV-A74V-01A-11D-A33Q-10		104173691	31361056	11	44796			1	124		2	2	14	N	G_C	7.558901e-06
PSD	5662	hgsc.bcm.edu	37	10	104173704	104173704	+	Missense_Mutation	SNP	C	C	T			TCGA-KV-A74V-01A-11D-A33Q-10	TCGA-KV-A74V-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	df25a569-f993-4bbe-9766-cdc2a7c40750	9a716ea4-aa7c-4d1a-b9ec-9fb71edb7024	g.chr10:104173704C>T	ENST00000020673.5	-	5	1901	c.1375G>A	c.(1375-1377)Gcc>Acc	p.A459T	PSD_ENST00000492902.2_5'Flank|PSD_ENST00000406432.1_Missense_Mutation_p.A459T	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	459	Pro-rich.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GCAAGTGGGGCGGGAGCTGGT	0.657																																																0													36	44	42					10																	104173704		2203	4298	6501	SO:0001583	missense	5662			X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"Pleckstrin homology (PH) domain containing"	9507	protein-coding gene	gene with protein product		602327	"pleckstrin and Sec7 domain protein"			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.1375G>A	chr10.hg19:g.104173704C>T	ENSP00000020673:p.Ala459Thr		B1AKX7|D3DR87|Q15673|Q8IVG0	Missense_Mutation	SNP	ENST00000020673.5	hg19	CCDS31272.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.847795	0.51164	.	.	ENSG00000059915	ENST00000020673;ENST00000541902;ENST00000406432	T;T	0.49720	0.77;0.77	4.78	4.78	0.61160	.	0.277670	0.29396	N	0.012273	T	0.31544	0.0800	L	0.27053	0.805	0.35766	D	0.820535	P	0.35551	0.509	B	0.20184	0.028	T	0.37314	-0.9711	10	0.19147	T	0.46	.	17.8792	0.88835	0.0:1.0:0.0:0.0	.	459	A5PKW4	PSD1_HUMAN	T	459;362;459	ENSP00000020673:A459T;ENSP00000384830:A459T	ENSP00000020673:A459T	A	-	1	0	PSD	104163694	1.000000	0.71417	0.995000	0.50966	0.271000	0.26615	5.034000	0.64152	2.224000	0.72417	0.555000	0.69702	GCC		0.657	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050041.2			T	104173704	C	T	104173704	3	4	760	1	0	0	0	0	1	0	0	0	12651	768	27	1	1751	1	PSD	10	104173704	Missense_Mutation	SNP	C	TCGA-KV-A74V-01A-11D-A33Q-10	13	104173704	31361043	12	44797			1	124		2	2	14	N	G_C	7.558901e-06
MAP1A	4130	hgsc.bcm.edu	37	15	43819753	43819753	+	Missense_Mutation	SNP	T	T	G			TCGA-KV-A74V-01A-11D-A33Q-10	TCGA-KV-A74V-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	df25a569-f993-4bbe-9766-cdc2a7c40750	9a716ea4-aa7c-4d1a-b9ec-9fb71edb7024	g.chr15:43819753T>G	ENST00000300231.5	+	4	6532	c.6082T>G	c.(6082-6084)Tct>Gct	p.S2028A	MAP1A_ENST00000399453.1_Missense_Mutation_p.S2028A|MAP1A_ENST00000382031.1_Missense_Mutation_p.S2266A			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2028					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)	GAGCCTCCAGTCTGACACTCC	0.607																																																0													62	65	64					15																	43819753		2017	4190	6207	SO:0001583	missense	4130			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.6082T>G	chr15.hg19:g.43819753T>G	ENSP00000300231:p.Ser2028Ala		O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	hg19	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	T	8.252	0.809130	0.16537	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01388	4.95;4.95;4.95	4.9	-3.21	0.05140	.	0.508000	0.14891	N	0.292432	T	0.01029	0.0034	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45848	-0.9233	10	0.62326	D	0.03	0.7505	2.4176	0.04440	0.1129:0.2765:0.3846:0.2261	.	2028	P78559	MAP1A_HUMAN	A	2266;2028;2028	ENSP00000371462:S2266A;ENSP00000382380:S2028A;ENSP00000300231:S2028A	ENSP00000300231:S2028A	S	+	1	0	MAP1A	41607045	0.000000	0.05858	0.351000	0.25721	0.994000	0.84299	-1.453000	0.02383	-0.183000	0.10585	0.533000	0.62120	TCT		0.607	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		G	43819753	T	G	43819753	3	3	760	1	0	0	0	0	1	0	0	0	9229	1667	58	5	6084	5	MAP1A	15	43819753	Missense_Mutation	SNP	T	TCGA-KV-A74V-01A-11D-A33Q-10		43819753	58711639	13	44798											
TSC2	7249	hgsc.bcm.edu	37	16	2135239	2135240	+	Frame_Shift_Ins	INS	-	-	T	rs45514391|rs137854329|rs137854407		TCGA-KV-A74V-01A-11D-A33Q-10	TCGA-KV-A74V-10A-01D-A33Q-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	df25a569-f993-4bbe-9766-cdc2a7c40750	9a716ea4-aa7c-4d1a-b9ec-9fb71edb7024	g.chr16:2135239_2135240insT	ENST00000219476.3	+	36	5208_5209	c.4578_4579insT	c.(4579-4581)tttfs	p.F1527fs	TSC2_ENST00000382538.6_Frame_Shift_Ins_p.F1412fs|TSC2_ENST00000353929.4_Frame_Shift_Ins_p.F1484fs|TSC2_ENST00000401874.2_Frame_Shift_Ins_p.F1460fs|TSC2_ENST00000568454.1_Frame_Shift_Ins_p.F1471fs|TSC2_ENST00000350773.4_Frame_Shift_Ins_p.F1504fs|TSC2_ENST00000439673.2_Frame_Shift_Ins_p.F1424fs	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1527					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)				AGTCACAGTCCTTTGAGCGGTC	0.668			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																													yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"E, O"	0																																										SO:0001589	frameshift_variant	7249	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 160"	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.4581dupT	chr16.hg19:g.2135242_2135242dupT	ENSP00000219476:p.Phe1527fs		A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Frame_Shift_Ins	INS	ENST00000219476.3	hg19	CCDS10458.1																																																																																				0.668	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		T	2135240	-	T	2135239	7	5	760	1	0	1	1	0	0	0	0	0	16611	668	24	0	4716	0	TSC2	16	2135239	Frame_Shift_Ins	INS	-	TCGA-KV-A74V-01A-11D-A33Q-10		2135239	88219514	14	44799											
RTTN	25914	hgsc.bcm.edu	37	18	67816232	67816232	+	Silent	SNP	G	G	T			TCGA-KV-A74V-01A-11D-A33Q-10	TCGA-KV-A74V-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	df25a569-f993-4bbe-9766-cdc2a7c40750	9a716ea4-aa7c-4d1a-b9ec-9fb71edb7024	g.chr18:67816232G>T	ENST00000255674.6	-	17	2500	c.2214C>A	c.(2212-2214)ctC>ctA	p.L738L	RTTN_ENST00000454359.1_Silent_p.L738L|RTTN_ENST00000437017.1_Silent_p.L738L	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	738					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)				TGCTTAGAAGGAGAATGCAGT	0.393																																																0													158	149	151					18																	67816232		1857	4100	5957	SO:0001819	synonymous_variant	25914			AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.2214C>A	chr18.hg19:g.67816232G>T			Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Silent	SNP	ENST00000255674.6	hg19	CCDS42443.1																																																																																				0.393	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		T	67816232	G	T	67816232	2	4	760	1	0	0	0	0	0	0	0	1	13743	1161	41	4		4	RTTN	18	67816232	Silent	SNP	G	TCGA-KV-A74V-01A-11D-A33Q-10		67816232	10261016	15	44800											
HUNK	30811	hgsc.bcm.edu	37	21	33371184	33371184	+	Missense_Mutation	SNP	T	T	A			TCGA-KV-A74V-01A-11D-A33Q-10	TCGA-KV-A74V-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	df25a569-f993-4bbe-9766-cdc2a7c40750	9a716ea4-aa7c-4d1a-b9ec-9fb71edb7024	g.chr21:33371184T>A	ENST00000270112.2	+	11	2192	c.1832T>A	c.(1831-1833)cTc>cAc	p.L611H		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	611					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						ATGTCGCCTCTCCATACTCCT	0.572																																																0													53	50	51					21																	33371184		2203	4300	6503	SO:0001583	missense	30811			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.1832T>A	chr21.hg19:g.33371184T>A	ENSP00000270112:p.Leu611His			Missense_Mutation	SNP	ENST00000270112.2	hg19	CCDS13610.1	.	.	.	.	.	.	.	.	.	.	T	11.43	1.635034	0.29068	.	.	ENSG00000142149	ENST00000270112	T	0.69561	-0.41	4.39	1.92	0.25849	.	0.706815	0.12389	N	0.473175	T	0.49321	0.1550	N	0.19112	0.55	0.09310	N	0.999995	D	0.57257	0.979	P	0.46975	0.533	T	0.31998	-0.9923	10	0.15499	T	0.54	-12.9944	5.8389	0.18623	0.0:0.1007:0.1799:0.7194	.	611	P57058	HUNK_HUMAN	H	611	ENSP00000270112:L611H	ENSP00000270112:L611H	L	+	2	0	HUNK	32293055	0.002000	0.14202	0.023000	0.16930	0.286000	0.27126	0.915000	0.28638	0.712000	0.32039	0.402000	0.26972	CTC		0.572	HUNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192782.1	NM_014586		A	33371184	T	A	33371184	3	1	760	1	0	0	0	0	1	0	0	0	7460	1551	54	5	1874	5	HUNK	21	33371184	Missense_Mutation	SNP	T	TCGA-KV-A74V-01A-11D-A33Q-10		33371184	14758711	16	44801											
NEFH	4744	hgsc.bcm.edu	37	22	29885585	29885586	+	In_Frame_Ins	INS	-	-	AAGTCCCCTGAGAAGGCC	rs200984527|rs267607533		TCGA-KV-A74V-01A-11D-A33Q-10	TCGA-KV-A74V-10A-01D-A33Q-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	df25a569-f993-4bbe-9766-cdc2a7c40750	9a716ea4-aa7c-4d1a-b9ec-9fb71edb7024	g.chr22:29885585_29885586insAAGTCCCCTGAGAAGGCC	ENST00000310624.6	+	4	1989_1990	c.1956_1957insAAGTCCCCTGAGAAGGCC	c.(1957-1959)aag>AAGTCCCCTGAGAAGGCCaag	p.653_653K>KSPEKAK		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	659	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						CTGAGAAGGCCAAGTCCCCAGA	0.564																																																0																																										SO:0001652	inframe_insertion	4744				CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"Intermediate filaments type IV"	7737	protein-coding gene	gene with protein product		162230	"neurofilament, heavy polypeptide 200kDa"				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.1939_1956dupAAGTCCCCTGAGAAGGCC	chr22.hg19:g.29885585_29885586insAAGTCCCCTGAGAAGGCC	ENSP00000311997:p.SerProGluLysAlaLys653dup		B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	In_Frame_Ins	INS	ENST00000310624.6	hg19	CCDS13858.1																																																																																				0.564	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		AAGTCCCCTGAGAAGGCC	29885586	-	AAGTCCCCTGAGAAGGCC	29885585	7	5	760	1	0	1	1	0	0	0	0	0	10316	581	21	0	1970	0	NEFH	22	29885585	In_Frame_Ins	INS	-	TCGA-KV-A74V-01A-11D-A33Q-10		29885585	21418981	17	44802											
BRD1	23774	hgsc.bcm.edu	37	22	50170697	50170697	+	Missense_Mutation	SNP	C	C	T			TCGA-KV-A74V-01A-11D-A33Q-10	TCGA-KV-A74V-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	df25a569-f993-4bbe-9766-cdc2a7c40750	9a716ea4-aa7c-4d1a-b9ec-9fb71edb7024	g.chr22:50170697C>T	ENST00000216267.8	-	9	3199	c.2713G>A	c.(2713-2715)Gcc>Acc	p.A905T	BRD1_ENST00000404034.1_Missense_Mutation_p.A905T|BRD1_ENST00000342989.5_Missense_Mutation_p.A631T|BRD1_ENST00000404760.1_Missense_Mutation_p.A1036T|BRD1_ENST00000457780.2_3'UTR|BRD1_ENST00000542442.1_Missense_Mutation_p.A593T	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	905					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)		GCGATCCTGGCCGCCTTGGCG	0.647																																																0													70	68	69					22																	50170697		2203	4300	6503	SO:0001583	missense	23774			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.2713G>A	chr22.hg19:g.50170697C>T	ENSP00000216267:p.Ala905Thr		A6ZJA4	Missense_Mutation	SNP	ENST00000216267.8	hg19	CCDS14080.1	.	.	.	.	.	.	.	.	.	.	C	18.16	3.561093	0.65538	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000542442;ENST00000342989;ENST00000419212	T;T;T;T;T	0.31510	2.45;2.45;2.48;1.49;1.87	4.98	4.98	0.66077	.	0.105193	0.64402	D	0.000004	T	0.51618	0.1685	M	0.63428	1.95	0.80722	D	1	D;D;D;D	0.89917	0.967;0.988;1.0;0.989	P;P;D;D	0.80764	0.629;0.815;0.994;0.91	T	0.41998	-0.9477	10	0.16896	T	0.51	.	18.245	0.89982	0.0:1.0:0.0:0.0	.	1036;631;905;1036	Q86X06;B7Z926;O95696;O95696-2	.;.;BRD1_HUMAN;.	T	905;905;1036;593;631;496	ENSP00000216267:A905T;ENSP00000384076:A905T;ENSP00000385858:A1036T;ENSP00000437514:A593T;ENSP00000345886:A631T	ENSP00000216267:A905T	A	-	1	0	BRD1	48556701	1.000000	0.71417	0.874000	0.34290	0.485000	0.33311	5.458000	0.66679	2.300000	0.77407	0.655000	0.94253	GCC		0.647	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	NM_014577		T	50170697	C	T	50170697	3	4	760	1	0	0	0	0	1	0	0	0	1503	739	26	2	479	2	BRD1	22	50170697	Missense_Mutation	SNP	C	TCGA-KV-A74V-01A-11D-A33Q-10	20285112	50170697	1133869	18	44803											
UBR4	23352	hgsc.bcm.edu	37	1	19482811	19482811	+	Missense_Mutation	SNP	G	G	A			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr1:19482811G>A	ENST00000375254.3	-	42	6053	c.6026C>T	c.(6025-6027)cCt>cTt	p.P2009L	UBR4_ENST00000375267.2_Missense_Mutation_p.P2009L|UBR4_ENST00000375226.2_Missense_Mutation_p.P2009L|UBR4_ENST00000375217.2_Missense_Mutation_p.P2009L	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2009					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)		CTGTGAACCAGGTAACCACAC	0.438																																																0													139	122	128					1																	19482811		2203	4300	6503	SO:0001583	missense	23352			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.6026C>T	chr1.hg19:g.19482811G>A	ENSP00000364403:p.Pro2009Leu		A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	hg19	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	34	5.380190	0.95945	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000417040;ENST00000419533	T;T;T;T;T	0.27720	1.65;1.65;1.65;1.65;2.69	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.63402	0.2508	M	0.87827	2.91	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	T	0.68800	-0.5313	10	0.87932	D	0	.	19.3843	0.94550	0.0:0.0:1.0:0.0	.	2009	Q5T4S7	UBR4_HUMAN	L	2009;2009;2009;2009;719;1225	ENSP00000364403:P2009L;ENSP00000364416:P2009L;ENSP00000364365:P2009L;ENSP00000364374:P2009L;ENSP00000404897:P719L	ENSP00000364365:P2009L	P	-	2	0	UBR4	19355398	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.969000	0.93411	2.814000	0.96858	0.591000	0.81541	CCT		0.438	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		A	19482811	G	A	19482811	3	1	761	1	0	0	0	0	1	0	0	0	16909	1000	35	2	9785	2	UBR4	1	19482811	Missense_Mutation	SNP	G	TCGA-MH-A55W-01A-11D-A26P-10		19482811	229767810	1	44804											
STK40	83931	hgsc.bcm.edu	37	1	36820910	36820910	+	Missense_Mutation	SNP	A	A	T			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr1:36820910A>T	ENST00000373129.3	-	6	873	c.467T>A	c.(466-468)cTc>cAc	p.L156H	STK40_ENST00000373130.3_Missense_Mutation_p.L161H|STK40_ENST00000359297.2_Missense_Mutation_p.L156H|STK40_ENST00000482458.1_5'UTR|STK40_ENST00000373132.3_Missense_Mutation_p.L156H	NM_032017.1	NP_114406.1	Q8N2I9	STK40_HUMAN	serine/threonine kinase 40	156	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				glycogen metabolic process (GO:0005977)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|regulation of MAPK cascade (GO:0043408)|respiratory system process (GO:0003016)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)	13		Myeloproliferative disorder(586;0.0393)				CAGGTTGATGAGGTCAGCGGT	0.557																																																0													278	239	252					1																	36820910		2203	4300	6503	SO:0001583	missense	83931			BC008344	CCDS407.1, CCDS60089.1	1p34.3	2008-02-05			ENSG00000196182	ENSG00000196182			21373	protein-coding gene	gene with protein product		609437					Standard	NM_032017		Approved	MGC4796, SgK495	uc001cak.1	Q8N2I9	OTTHUMG00000008238	ENST00000373129.3:c.467T>A	chr1.hg19:g.36820910A>T	ENSP00000362221:p.Leu156His		D3DPS8|Q5VTK8|Q5VTK9|Q6ZMN1|Q8N2J8|Q8N3I6|Q96HN6|Q96I44|Q9BSA3|Q9H7H6	Missense_Mutation	SNP	ENST00000373129.3	hg19	CCDS407.1	.	.	.	.	.	.	.	.	.	.	A	29.4	5.006207	0.93287	.	.	ENSG00000196182	ENST00000373129;ENST00000359297;ENST00000373130;ENST00000373132	T;T;T;T	0.69175	-0.38;1.96;1.96;-0.38	5.91	5.91	0.95273	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.064019	0.64402	D	0.000004	D	0.87200	0.6118	H	0.95043	3.615	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.958;0.975	D	0.90870	0.4745	10	0.87932	D	0	-15.2233	15.5237	0.75885	1.0:0.0:0.0:0.0	.	156;161;156	Q8N2I9-3;Q8N2I9-4;Q8N2I9	.;.;STK40_HUMAN	H	156;156;161;156	ENSP00000362221:L156H;ENSP00000352245:L156H;ENSP00000362222:L161H;ENSP00000362224:L156H	ENSP00000352245:L156H	L	-	2	0	STK40	36593497	1.000000	0.71417	0.999000	0.59377	0.926000	0.56050	8.857000	0.92250	2.263000	0.75096	0.379000	0.24179	CTC		0.557	STK40-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022592.1	NM_032017		T	36820910	A	T	36820910	3	4	761	1	0	0	0	0	1	0	0	0	15312	304	11	5	868	5	STK40	1	36820910	Missense_Mutation	SNP	A	TCGA-MH-A55W-01A-11D-A26P-10	17338099	36820910	212429711	2	44805											
CELSR2	1952	hgsc.bcm.edu	37	1	109807154	109807154	+	Missense_Mutation	SNP	G	G	A			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr1:109807154G>A	ENST00000271332.3	+	11	5429	c.5368G>A	c.(5368-5370)Ggc>Agc	p.G1790S		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1790	Laminin G-like 2. {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)		CGTGGAGCAAGGCTGTAGCCT	0.587																																					NSCLC(158;1285 2011 34800 34852 42084)											0													190	170	177					1																	109807154		2203	4300	6503	SO:0001583	missense	1952			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3231	protein-coding gene	gene with protein product		604265	"cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.5368G>A	chr1.hg19:g.109807154G>A	ENSP00000271332:p.Gly1790Ser		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	hg19	CCDS796.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.643501	0.87859	.	.	ENSG00000143126	ENST00000271332	D	0.87179	-2.22	4.79	4.79	0.61399	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	.	.	.	.	D	0.93190	0.7831	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93620	0.6947	9	0.62326	D	0.03	.	18.0161	0.89241	0.0:0.0:1.0:0.0	.	1790	Q9HCU4	CELR2_HUMAN	S	1790	ENSP00000271332:G1790S	ENSP00000271332:G1790S	G	+	1	0	CELSR2	109608677	1.000000	0.71417	0.996000	0.52242	0.712000	0.41017	9.202000	0.95026	2.504000	0.84457	0.561000	0.74099	GGC		0.587	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		A	109807154	G	A	109807154	3	1	761	1	0	0	0	0	1	0	0	0	3224	1000	35	2	5410	2	CELSR2	1	109807154	Missense_Mutation	SNP	G	TCGA-MH-A55W-01A-11D-A26P-10	72986244	109807154	139443467	3	44806											
ADAMTSL4	54507	hgsc.bcm.edu	37	1	150531493	150531493	+	Missense_Mutation	SNP	G	G	T			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr1:150531493G>T	ENST00000369038.2	+	14	2816	c.2615G>T	c.(2614-2616)aGt>aTt	p.S872I	RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000271643.4_Missense_Mutation_p.S872I|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.S895I			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	872	TSP type-1 4. {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)			TGCCTTGGGAGTGGGGCAGCC	0.692																																																0													15	19	18					1																	150531493		2201	4296	6497	SO:0001583	missense	54507			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.2615G>T	chr1.hg19:g.150531493G>T	ENSP00000358034:p.Ser872Ile		B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Missense_Mutation	SNP	ENST00000369038.2	hg19	CCDS955.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.525215	0.64747	.	.	ENSG00000143382	ENST00000271643;ENST00000407995;ENST00000369039;ENST00000369038	T;T;T	0.60797	0.16;0.16;0.16	5.63	5.63	0.86233	.	.	.	.	.	T	0.66973	0.2844	L	0.53617	1.68	0.46564	D	0.999104	D;D;D	0.89917	1.0;0.998;0.999	D;D;D	0.74674	0.981;0.984;0.973	T	0.68315	-0.5441	9	0.62326	D	0.03	.	17.1708	0.86830	0.0:0.0:1.0:0.0	.	833;895;872	B7ZMJ3;F8WAD0;Q6UY14	.;.;ATL4_HUMAN	I	872;410;895;872	ENSP00000271643:S872I;ENSP00000358035:S895I;ENSP00000358034:S872I	ENSP00000271643:S872I	S	+	2	0	ADAMTSL4	148798117	0.765000	0.28485	0.987000	0.45799	0.293000	0.27360	2.637000	0.46553	2.655000	0.90218	0.462000	0.41574	AGT		0.692	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	NM_019032		T	150531493	G	T	150531493	3	4	761	1	0	0	0	0	1	0	0	0	277	1029	36	4	2744	4	ADAMTSL4	1	150531493	Missense_Mutation	SNP	G	TCGA-MH-A55W-01A-11D-A26P-10	40724339	150531493	98719128	4	44807											
ROBLD3	28956	hgsc.bcm.edu	37	1	156027791	156027791	+	Frame_Shift_Del	DEL	G	G	-			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr1:156027791delG	ENST00000368305.4	+	3	392	c.254delG	c.(253-255)cgafs	p.R85fs	LAMTOR2_ENST00000368302.3_Frame_Shift_Del_p.R85fs|LAMTOR2_ENST00000368304.5_Intron	NM_014017.3	NP_054736.1	Q9Y2Q5	LTOR2_HUMAN	late endosomal/lysosomal adaptor, MAPK and MTOR activator 2	85					activation of MAPKK activity (GO:0000186)|cell growth (GO:0016049)|cellular protein localization (GO:0034613)|cellular response to amino acid stimulus (GO:0071230)|positive regulation of GTPase activity (GO:0043547)|positive regulation of TOR signaling (GO:0032008)	extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|Ragulator complex (GO:0071986)				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	7						GCCATCACCCGAGTGGCCAAC	0.577																																																0													205	152	170					1																	156027791		2203	4300	6503	SO:0001589	frameshift_variant	28956			BC024190	CCDS1128.1, CCDS44243.1	1q22	2014-09-17	2011-02-15	2011-02-15	ENSG00000116586	ENSG00000116586			29796	protein-coding gene	gene with protein product	"mitogen activated protein binding protein interacting protein", "MAPKSP1 adaptor protein", "endosomal adaptor protein"	610389	"roadblock domain containing 3"	ROBLD3		11042152	Standard	NM_014017		Approved	MAPBPIP, MAPKSP1AP, p14, ENDAP, Ragulator2	uc001fnb.3	Q9Y2Q5	OTTHUMG00000017462	ENST00000368305.4:c.254delG	chr1.hg19:g.156027791delG	ENSP00000357288:p.Arg85fs		Q5VY97|Q5VY98|Q5VY99	Frame_Shift_Del	DEL	ENST00000368305.4	hg19	CCDS1128.1																																																																																				0.577	LAMTOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046197.1	NM_014017		-	156027791	G	-	156027791	7	5	761	1	0	1	0	1	0	0	0	0	13518	1058	37	0	264	0	ROBLD3	1	156027791	Frame_Shift_Del	DEL	G	TCGA-MH-A55W-01A-11D-A26P-10	5496298	156027791	93222830	5	44808											
ELK4	2005	hgsc.bcm.edu	37	1	205588957	205588957	+	Intron	SNP	C	C	G			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr1:205588957C>G	ENST00000357992.4	-	3	1420				ELK4_ENST00000468523.1_5'Flank|ELK4_ENST00000289703.4_Nonstop_Mutation_p.*406S	NM_001973.3	NP_001964.2	P28324	ELK4_HUMAN	ELK4, ETS-domain protein (SRF accessory protein 1)						cell differentiation (GO:0030154)|histone H3 deacetylation (GO:0070932)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)		SLC45A3/ELK4(18)	breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	12	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			GGGTAACTTTCACATGACAGT	0.289			T	SLC45A3	prostate																																		Dom	yes		1	1q32	2005	"ELK4, ETS-domain protein (SRF accessory protein 1)"		E	0													48	48	48					1																	205588957		2203	4300	6503	SO:0001627	intron_variant	2005			M85165	CCDS1456.1, CCDS1457.1	1q32	2008-02-05			ENSG00000158711	ENSG00000158711			3326	protein-coding gene	gene with protein product		600246				7851904, 8575773	Standard	NM_001973		Approved	SAP1		P28324	OTTHUMG00000037221	ENST00000357992.4:c.1080+136G>C	chr1.hg19:g.205588957C>G			P28323|Q6GSJ2	Missense_Mutation	SNP	ENST00000357992.4	hg19	CCDS1456.1	.	.	.	.	.	.	.	.	.	.	C	11.79	1.744796	0.30865	.	.	ENSG00000158711	ENST00000289703	.	.	.	4.73	4.73	0.59995	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5541	0.61749	0.0:1.0:0.0:0.0	.	.	.	.	S	406	.	.	X	-	2	2	ELK4	203855580	0.000000	0.05858	0.860000	0.33809	0.233000	0.25261	0.118000	0.15605	2.344000	0.79699	0.655000	0.94253	TGA		0.289	ELK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090615.1	NM_021795		G	205588957	C	G	205588957	1	3	761	0	1	0	0	0	0	0	0	0	5063	837	29	4		4	ELK4	1	205588957	Intron	SNP	C	TCGA-MH-A55W-01A-11D-A26P-10	49561166	205588957	43661664	6	44809											
OR13G1	441933	hgsc.bcm.edu	37	1	247836182	247836182	+	Silent	SNP	C	C	A			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr1:247836182C>A	ENST00000359688.2	-	1	183	c.162G>T	c.(160-162)acG>acT	p.T54T	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, 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)			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)			CATACATGGGCGTATGCAAGG	0.418																																																0													90	70	77					1																	247836182		2203	4300	6503	SO:0001819	synonymous_variant	441933			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.162G>T	chr1.hg19:g.247836182C>A			B2RN80|Q5T2T2|Q6IF86	Silent	SNP	ENST00000359688.2	hg19	CCDS31094.1																																																																																				0.418	OR13G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096869.1	NM_001005487		A	247836182	C	A	247836182	2	1	761	1	0	0	0	0	0	0	0	1	10944	755	27	4		4	OR13G1	1	247836182	Silent	SNP	C	TCGA-MH-A55W-01A-11D-A26P-10	42247225	247836182	1414439	7	44810											
GEN1	348654	hgsc.bcm.edu	37	2	17962535	17962535	+	Missense_Mutation	SNP	C	C	G			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr2:17962535C>G	ENST00000381254.2	+	14	2270	c.2056C>G	c.(2056-2058)Cag>Gag	p.Q686E	GEN1_ENST00000317402.7_Missense_Mutation_p.Q686E|SMC6_ENST00000402989.1_Intron	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	686					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)					ATCATATCCTCAGGATAATCT	0.348								Homologous recombination																																								0													75	82	79					2																	17962535		2203	4300	6503	SO:0001583	missense	348654			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.2056C>G	chr2.hg19:g.17962535C>G	ENSP00000370653:p.Gln686Glu		Q17RS9|Q6ZN37	Missense_Mutation	SNP	ENST00000381254.2	hg19	CCDS1691.1	.	.	.	.	.	.	.	.	.	.	C	2.631	-0.286254	0.05605	.	.	ENSG00000178295	ENST00000317402;ENST00000381254;ENST00000536097	T;T	0.24723	1.84;1.84	5.41	2.48	0.30137	.	0.967756	0.08453	N	0.943658	T	0.25494	0.0620	M	0.62723	1.935	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.31888	-0.9927	10	0.59425	D	0.04	0.3588	4.3539	0.11169	0.1364:0.6005:0.1325:0.1307	.	686	Q17RS7	GEN_HUMAN	E	686;686;323	ENSP00000318977:Q686E;ENSP00000370653:Q686E	ENSP00000318977:Q686E	Q	+	1	0	GEN1	17826016	0.000000	0.05858	0.001000	0.08648	0.018000	0.09664	0.195000	0.17155	0.717000	0.32145	0.655000	0.94253	CAG		0.348	GEN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241661.2	NM_182625		G	17962535	C	G	17962535	3	3	761	1	0	0	0	0	1	0	0	0	6337	827	29	4	2106	4	GEN1	2	17962535	Missense_Mutation	SNP	C	TCGA-MH-A55W-01A-11D-A26P-10		17962535	225236838	8	44811											
ITSN2	50618	hgsc.bcm.edu	37	2	24469667	24469667	+	Splice_Site	SNP	A	A	G			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr2:24469667A>G	ENST00000355123.4	-	28	3827	c.3384T>C	c.(3382-3384)ccT>ccC	p.P1128P	ITSN2_ENST00000361999.3_Splice_Site_p.P1101P|ITSN2_ENST00000406921.3_Splice_Site_p.P1128P	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1128	SH3 5. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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)					CTTCCATACCAGGATGAAAGG	0.383																																																0													87	87	87					2																	24469667		2203	4300	6503	SO:0001630	splice_region_variant	50618			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.3385+1T>C	chr2.hg19:g.24469667A>G			O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Silent	SNP	ENST00000355123.4	hg19	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	A	11.59	1.683791	0.29872	.	.	ENSG00000198399	ENST00000416160	.	.	.	5.59	-2.45	0.06481	.	.	.	.	.	T	0.43122	0.1233	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35624	-0.9781	4	.	.	.	.	4.57	0.12205	0.3227:0.0:0.2426:0.4346	.	.	.	.	P	56	.	.	L	-	2	0	ITSN2	24323171	1.000000	0.71417	0.998000	0.56505	0.972000	0.66771	1.158000	0.31737	-0.097000	0.12307	0.383000	0.25322	CTG		0.383	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277	Silent	G	24469667	A	G	24469667	5	3	761	1	0	0	0	0	0	0	1	0	7929	202	7	3	1812	3	ITSN2	2	24469667	Splice_Site	SNP	A	TCGA-MH-A55W-01A-11D-A26P-10	6507132	24469667	218729706	9	44812											
NRBP1	29959	hgsc.bcm.edu	37	2	27660178	27660178	+	Missense_Mutation	SNP	A	A	T			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr2:27660178A>T	ENST00000233557.3	+	11	1686	c.854A>T	c.(853-855)cAg>cTg	p.Q285L	NRBP1_ENST00000379852.3_Missense_Mutation_p.Q285L|NRBP1_ENST00000379863.3_Missense_Mutation_p.Q293L			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	285	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ER to Golgi vesicle-mediated transport (GO:0006888)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell projection (GO:0042995)|endomembrane system (GO:0012505)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					TATGTGCCACAGGAAGCCATC	0.463																																																0													78	72	74					2																	27660178		2203	4300	6503	SO:0001583	missense	29959			AF113249	CCDS1753.1	2p23	2008-02-05	2005-12-22	2005-12-22	ENSG00000115216	ENSG00000115216			7993	protein-coding gene	gene with protein product		606010	"nuclear receptor binding protein"	NRBP		10843813, 11956649	Standard	NM_013392		Approved	BCON3, MUDPNP, MADM	uc002rkp.3	Q9UHY1	OTTHUMG00000097789	ENST00000233557.3:c.854A>T	chr2.hg19:g.27660178A>T	ENSP00000233557:p.Gln285Leu		B3KV40|D6W558|Q53FZ5|Q96SU3	Missense_Mutation	SNP	ENST00000233557.3	hg19	CCDS1753.1	.	.	.	.	.	.	.	.	.	.	A	16.36	3.100500	0.56183	.	.	ENSG00000115216	ENST00000233557;ENST00000421823;ENST00000379852;ENST00000379863	T;T;T	0.32272	1.46;1.46;1.46	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	0.28928	0.0718	L	0.28014	0.82	0.80722	D	1	B;B;B	0.32862	0.387;0.049;0.06	B;B;B	0.40256	0.324;0.039;0.021	T	0.08513	-1.0718	10	0.40728	T	0.16	-13.0877	14.6481	0.68774	1.0:0.0:0.0:0.0	.	265;293;285	B4DW31;F8W6G1;Q9UHY1	.;.;NRBP_HUMAN	L	285;265;285;293	ENSP00000233557:Q285L;ENSP00000369181:Q285L;ENSP00000369192:Q293L	ENSP00000233557:Q285L	Q	+	2	0	NRBP1	27513682	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.394000	0.79862	2.138000	0.66242	0.533000	0.62120	CAG		0.463	NRBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215033.1	NM_013392		T	27660178	A	T	27660178	3	4	761	1	0	0	0	0	1	0	0	0	10644	188	7	5	888	5	NRBP1	2	27660178	Missense_Mutation	SNP	A	TCGA-MH-A55W-01A-11D-A26P-10	3190511	27660178	215539195	10	44813											
RANBP2	5903	hgsc.bcm.edu	37	2	109380179	109380179	+	Frame_Shift_Del	DEL	A	A	-	rs201854838		TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr2:109380179delA	ENST00000283195.6	+	20	3310	c.3184delA	c.(3184-3186)aacfs	p.N1062fs		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1062					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						AGCTTACAGTAACAGTGAAAG	0.443																																																0													74	77	76					2																	109380179		2203	4300	6503	SO:0001589	frameshift_variant	5903			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.3184delA	chr2.hg19:g.109380179delA	ENSP00000283195:p.Asn1062fs		Q13074|Q15280|Q53TE2|Q59FH7	Frame_Shift_Del	DEL	ENST00000283195.6	hg19	CCDS2079.1																																																																																				0.443	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		-	109380179	A	-	109380179	7	5	761	1	0	1	0	1	0	0	0	0	13034	362	13	0	3262	0	RANBP2	2	109380179	Frame_Shift_Del	DEL	A	TCGA-MH-A55W-01A-11D-A26P-10	81720001	109380179	133819194	11	44814											
NPHP1	4867	hgsc.bcm.edu	37	2	110922202	110922202	+	Missense_Mutation	SNP	A	A	T			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr2:110922202A>T	ENST00000393272.3	-	8	931	c.834T>A	c.(832-834)aaT>aaA	p.N278K	NPHP1_ENST00000417665.1_Intron|NPHP1_ENST00000445609.2_Intron|NPHP1_ENST00000316534.4_Missense_Mutation_p.N278K|NPHP1_ENST00000355301.4_Intron	NM_000272.3|NM_207181.2	NP_000263.2|NP_997064.2	O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	278					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						TCTCCATCCTATTTCGCATCA	0.463																																																0													185	182	183					2																	110922202		2203	4300	6503	SO:0001583	missense	4867			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.834T>A	chr2.hg19:g.110922202A>T	ENSP00000376953:p.Asn278Lys		O14837	Missense_Mutation	SNP	ENST00000393272.3	hg19	CCDS46385.1	.	.	.	.	.	.	.	.	.	.	A	11.00	1.510348	0.27036	.	.	ENSG00000144061	ENST00000316534;ENST00000393272	T;T	0.60171	0.21;0.21	4.36	-3.69	0.04450	.	1.449030	0.04895	U	0.450299	T	0.35038	0.0918	N	0.22421	0.69	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.001;0.003	T	0.09335	-1.0679	10	0.23302	T	0.38	-2.1995	1.7177	0.02905	0.4617:0.1409:0.2537:0.1437	.	278;278	O15259;O15259-4	NPHP1_HUMAN;.	K	278	ENSP00000313169:N278K;ENSP00000376953:N278K	ENSP00000313169:N278K	N	-	3	2	NPHP1	110279491	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.481000	0.06552	-0.376000	0.07943	-1.092000	0.02172	AAT		0.463	NPHP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253919.3	NM_000272		T	110922202	A	T	110922202	3	4	761	1	0	0	0	0	1	0	0	0	10581	446	16	5	1419	5	NPHP1	2	110922202	Missense_Mutation	SNP	A	TCGA-MH-A55W-01A-11D-A26P-10	1542023	110922202	132277171	12	44815											
CLASP1	23332	hgsc.bcm.edu	37	2	122161975	122161975	+	Missense_Mutation	SNP	G	G	C			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr2:122161975G>C	ENST00000263710.4	-	26	3094	c.2705C>G	c.(2704-2706)aCt>aGt	p.T902S	CLASP1_ENST00000409078.3_Missense_Mutation_p.T874S|CLASP1_ENST00000455322.2_Missense_Mutation_p.T874S|CLASP1_ENST00000541859.1_Missense_Mutation_p.T635S|CLASP1_ENST00000541377.1_Missense_Mutation_p.T880S|CLASP1_ENST00000545861.1_Missense_Mutation_p.T649S|CLASP1_ENST00000397587.3_Missense_Mutation_p.T882S	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	902					axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					AAACATCCGAGTGAAGATCTC	0.408																																																0													102	99	100					2																	122161975		1978	4156	6134	SO:0001583	missense	23332			AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"multiple asters 1"	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.2705C>G	chr2.hg19:g.122161975G>C	ENSP00000263710:p.Thr902Ser		B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Missense_Mutation	SNP	ENST00000263710.4	hg19		.	.	.	.	.	.	.	.	.	.	G	29.9	5.041443	0.93685	.	.	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000541859;ENST00000409078;ENST00000545861	T;T;T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16	5.37	5.37	0.77165	Armadillo-like helical (1);Armadillo-type fold (1);	0.045519	0.85682	D	0.000000	T	0.76615	0.4012	L	0.55481	1.735	0.58432	D	0.999999	D;D;P;P	0.76494	0.999;0.999;0.865;0.74	D;D;P;P	0.79108	0.992;0.968;0.604;0.617	T	0.77496	-0.2566	10	0.59425	D	0.04	-15.1313	19.1123	0.93321	0.0:0.0:1.0:0.0	.	874;882;880;902	E7EUA5;F5GWS0;B7ZLX3;Q7Z460	.;.;.;CLAP1_HUMAN	S	902;874;882;880;635;874;649	ENSP00000263710:T902S;ENSP00000389372:T874S;ENSP00000380717:T882S;ENSP00000441625:T880S;ENSP00000441770:T635S;ENSP00000386442:T874S;ENSP00000438620:T649S	ENSP00000263710:T902S	T	-	2	0	CLASP1	121878445	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.496000	0.97967	2.518000	0.84900	0.563000	0.77884	ACT		0.408	CLASP1-201	KNOWN	basic	protein_coding	protein_coding		NM_015282		C	122161975	G	C	122161975	3	2	761	1	0	0	0	0	1	0	0	0	3456	1029	36	4	1967	4	CLASP1	2	122161975	Missense_Mutation	SNP	G	TCGA-MH-A55W-01A-11D-A26P-10	11239773	122161975	121037398	13	44816											
KIF1A	547	hgsc.bcm.edu	37	2	241725900	241725900	+	Missense_Mutation	SNP	C	C	T			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr2:241725900C>T	ENST00000320389.7	-	6	618	c.460G>A	c.(460-462)Gtc>Atc	p.V154I	KIF1A_ENST00000498729.2_Missense_Mutation_p.V154I	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	154	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				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)		AGGTCACGGACGCGCTCACAG	0.652																																																0													112	117	115					2																	241725900		2085	4227	6312	SO:0001583	missense	547			AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"Kinesins", "Pleckstrin homology (PH) domain containing"	888	protein-coding gene	gene with protein product		601255	"axonal transport of synaptic vesicles", "chromosome 2 open reading frame 20", "spastic paraplegia 30 (autosomal recessive)"	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.460G>A	chr2.hg19:g.241725900C>T	ENSP00000322791:p.Val154Ile		B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	hg19	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.399825	0.83120	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	T;T;T	0.74315	-0.83;-0.83;-0.83	4.55	4.55	0.56014	Kinesin, motor domain (4);	0.000000	0.64402	U	0.000001	T	0.80681	0.4669	L	0.35414	1.06	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.85130	0.997;0.983;0.996	D	0.83722	0.0193	10	0.87932	D	0	.	17.3339	0.87274	0.0:1.0:0.0:0.0	.	154;154;154	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	I	154	ENSP00000322791:V154I;ENSP00000438388:V154I;ENSP00000384231:V154I	ENSP00000322791:V154I	V	-	1	0	KIF1A	241374573	1.000000	0.71417	0.911000	0.35937	0.436000	0.31835	5.859000	0.69539	2.087000	0.62958	0.643000	0.83706	GTC		0.652	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		T	241725900	C	T	241725900	3	4	761	1	0	0	0	0	1	0	0	0	8285	536	19	1	4780	1	KIF1A	2	241725900	Missense_Mutation	SNP	C	TCGA-MH-A55W-01A-11D-A26P-10	119563925	241725900	1473473	14	44817											
FYCO1	79443	hgsc.bcm.edu	37	3	46009857	46009857	+	Missense_Mutation	SNP	C	C	A	rs372875711		TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr3:46009857C>A	ENST00000296137.2	-	8	1174	c.969G>T	c.(967-969)gaG>gaT	p.E323D	FYCO1_ENST00000535325.1_Missense_Mutation_p.E323D	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	323					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)		CTGCTCCTAGCTCCAGGCCCT	0.627																																																0													71	64	66					3																	46009857		2203	4300	6503	SO:0001583	missense	79443			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.969G>T	chr3.hg19:g.46009857C>A	ENSP00000296137:p.Glu323Asp		B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Missense_Mutation	SNP	ENST00000296137.2	hg19	CCDS2734.1	.	.	.	.	.	.	.	.	.	.	C	19.41	3.822936	0.71028	.	.	ENSG00000163820	ENST00000296137;ENST00000535325	T;T	0.28454	1.61;1.69	5.66	5.66	0.87406	.	0.237259	0.43260	D	0.000588	T	0.42539	0.1207	M	0.67953	2.075	0.34032	D	0.653899	D;P	0.63880	0.993;0.932	P;B	0.56127	0.792;0.362	T	0.54390	-0.8301	10	0.28530	T	0.3	-23.5428	8.7704	0.34728	0.0:0.8728:0.0:0.1272	.	323;323	B7ZKT7;Q9BQS8	.;FYCO1_HUMAN	D	323	ENSP00000296137:E323D;ENSP00000441178:E323D	ENSP00000296137:E323D	E	-	3	2	FYCO1	45984861	0.931000	0.31567	0.984000	0.44739	0.507000	0.33981	1.633000	0.37113	2.671000	0.90904	0.655000	0.94253	GAG		0.627	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	NM_024513		A	46009857	C	A	46009857	3	1	761	1	0	0	0	0	1	0	0	0	6127	796	28	4	3511	4	FYCO1	3	46009857	Missense_Mutation	SNP	C	TCGA-MH-A55W-01A-11D-A26P-10		46009857	152012573	15	44818											
RBM5	10181	hgsc.bcm.edu	37	3	50155814	50155814	+	Nonsense_Mutation	SNP	T	T	A			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr3:50155814T>A	ENST00000347869.3	+	25	2548	c.2373T>A	c.(2371-2373)taT>taA	p.Y791*	RP11-493K19.3_ENST00000425674.1_RNA|RP11-493K19.3_ENST00000437204.1_RNA	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	791	Required for interaction with U2AF2.				apoptotic process (GO:0006915)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCAGCGCATATGGTTTGTCGG	0.557																																																0													93	81	85					3																	50155814		2203	4300	6503	SO:0001587	stop_gained	10181			U23946	CCDS2810.1	3p21.3	2013-08-15			ENSG00000003756	ENSG00000003756		"G patch domain containing", "RNA binding motif (RRM) containing"	9902	protein-coding gene	gene with protein product		606884				10352938, 23935508	Standard	NM_005778		Approved	LUCA15, H37	uc003cyg.3	P52756	OTTHUMG00000156785	ENST00000347869.3:c.2373T>A	chr3.hg19:g.50155814T>A	ENSP00000343054:p.Tyr791*		B2RA45|B4DM16|B4DMF9|B4DZ63|Q93021|Q9BU14|Q9HDA6|Q9UKY8|Q9UL24	Nonsense_Mutation	SNP	ENST00000347869.3	hg19	CCDS2810.1	.	.	.	.	.	.	.	.	.	.	T	35	5.436728	0.96168	.	.	ENSG00000003756	ENST00000347869;ENST00000543047;ENST00000544851	.	.	.	5.56	0.508	0.16972	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.522	10.6385	0.45579	0.0:0.4157:0.0:0.5843	.	.	.	.	X	791;790;481	.	ENSP00000343054:Y791X	Y	+	3	2	RBM5	50130818	0.435000	0.25577	0.988000	0.46212	0.413000	0.31143	-0.355000	0.07671	0.075000	0.16796	0.528000	0.53228	TAT		0.557	RBM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345797.3	NM_005778		A	50155814	T	A	50155814	4	1	761	1	0	0	0	0	0	1	0	0	13149	1471	51	5	2467	5	RBM5	3	50155814	Nonsense_Mutation	SNP	T	TCGA-MH-A55W-01A-11D-A26P-10	4145957	50155814	147866616	16	44819											
WDR52	55779	hgsc.bcm.edu	37	3	113120585	113120585	+	Splice_Site	SNP	A	A	C			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr3:113120585A>C	ENST00000295868.2	-	10	1334	c.1172T>G	c.(1171-1173)aTa>aGa	p.I391R	WDR52_ENST00000393845.2_Splice_Site_p.I391R|WDR52-AS1_ENST00000498480.1_RNA|WDR52-AS1_ENST00000473329.1_RNA	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						AAAATCCCATATCTTGTAAAA	0.308																																																0													60	60	60					3																	113120585		2203	4298	6501	SO:0001630	splice_region_variant	55779																														ENST00000295868.2:c.1171-1T>G	chr3.hg19:g.113120585A>C				Missense_Mutation	SNP	ENST00000295868.2	hg19	CCDS2972.1	.	.	.	.	.	.	.	.	.	.	A	19.49	3.838251	0.71373	.	.	ENSG00000206530	ENST00000393845;ENST00000295868	T;T	0.70631	-0.5;3.01	5.63	5.63	0.86233	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	.	.	.	.	T	0.79446	0.4447	L	0.59436	1.845	0.80722	D	1	D	0.69078	0.997	P	0.59012	0.85	T	0.81839	-0.0748	9	0.87932	D	0	.	15.8341	0.78787	1.0:0.0:0.0:0.0	.	391	Q96MT7	WDR52_HUMAN	R	391	ENSP00000377428:I391R;ENSP00000295868:I391R	ENSP00000295868:I391R	I	-	2	0	WDR52	114603275	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.300000	0.59079	2.144000	0.66660	0.533000	0.62120	ATA		0.308	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354128.3		Missense_Mutation	C	113120585	A	C	113120585	5	2	761	1	0	0	0	0	0	0	1	0	17309	463	16	5	4511	5	WDR52	3	113120585	Splice_Site	SNP	A	TCGA-MH-A55W-01A-11D-A26P-10	62964771	113120585	84901845	17	44820											
IFT122	55764	hgsc.bcm.edu	37	3	129214436	129214436	+	Frame_Shift_Del	DEL	T	T	-			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr3:129214436delT	ENST00000348417.2	+	18	2271	c.2194delT	c.(2194-2196)tttfs	p.F732fs	IFT122_ENST00000349441.2_Frame_Shift_Del_p.F621fs|IFT122_ENST00000507564.1_Frame_Shift_Del_p.F724fs|IFT122_ENST00000440957.2_Frame_Shift_Del_p.F523fs|IFT122_ENST00000504021.1_Frame_Shift_Del_p.F608fs|IFT122_ENST00000347300.2_Frame_Shift_Del_p.F673fs|IFT122_ENST00000513932.1_3'UTR|IFT122_ENST00000296266.3_Frame_Shift_Del_p.F783fs|IFT122_ENST00000431818.2_Frame_Shift_Del_p.F582fs	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	732					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						CCTCTGCATGTTTGAGTATGC	0.537																																																0													118	106	110					3																	129214436		2203	4300	6503	SO:0001589	frameshift_variant	55764			AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"WD repeat domain containing", "Intraflagellar transport homologs"	13556	protein-coding gene	gene with protein product		606045	"WD repeat domain 10", "intraflagellar transport 122 homolog (Chlamydomonas)"	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.2194delT	chr3.hg19:g.129214436delT	ENSP00000324005:p.Phe732fs		B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Frame_Shift_Del	DEL	ENST00000348417.2	hg19	CCDS3061.1																																																																																				0.537	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1	NM_018262		-	129214436	T	-	129214436	7	5	761	1	0	1	0	1	0	0	0	0	7557	1725	60	0	2421	0	IFT122	3	129214436	Frame_Shift_Del	DEL	T	TCGA-MH-A55W-01A-11D-A26P-10	16093851	129214436	68807994	18	44821											
MYNN	55892	hgsc.bcm.edu	37	3	169496621	169496621	+	Missense_Mutation	SNP	G	G	A			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr3:169496621G>A	ENST00000349841.5	+	3	995	c.332G>A	c.(331-333)tGc>tAc	p.C111Y	MYNN_ENST00000544106.1_Missense_Mutation_p.C111Y|RP11-362K14.5_ENST00000602342.1_RNA|MYNN_ENST00000356716.4_Missense_Mutation_p.C111Y|MYNN_ENST00000392733.1_Missense_Mutation_p.C111Y	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	111					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)			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			GTCACTAAATGCAAAATAAAG	0.348																																																0													92	98	96					3																	169496621		2203	4300	6503	SO:0001583	missense	55892			AF148848	CCDS3207.1, CCDS54671.1	3q26.31	2013-01-09			ENSG00000085274	ENSG00000085274		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	14955	protein-coding gene	gene with protein product		606042				10873615	Standard	NM_001185118		Approved	SBBIZ1, ZBTB31, ZNF902	uc010hwo.3	Q9NPC7		ENST00000349841.5:c.332G>A	chr3.hg19:g.169496621G>A	ENSP00000326240:p.Cys111Tyr		B2R6C9|Q6QHA6|Q6QHA7|Q6R3G1|Q6R3G2|Q6R4A0|Q7Z716|Q7Z717|Q86Z11|Q86Z12|Q9NS01|Q9UIW8	Missense_Mutation	SNP	ENST00000349841.5	hg19	CCDS3207.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.352343	0.61293	.	.	ENSG00000085274	ENST00000356716;ENST00000349841;ENST00000392733;ENST00000544106	T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17	5.54	5.54	0.83059	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.93530	0.7935	H	0.98802	4.335	0.49915	D	0.999837	D;D	0.76494	0.999;0.998	D;D	0.81914	0.995;0.992	D	0.95900	0.8914	10	0.87932	D	0	.	19.4966	0.95075	0.0:0.0:1.0:0.0	.	111;111	Q9NPC7-2;Q9NPC7	.;MYNN_HUMAN	Y	111	ENSP00000349150:C111Y;ENSP00000326240:C111Y;ENSP00000376492:C111Y;ENSP00000440637:C111Y	ENSP00000326240:C111Y	C	+	2	0	MYNN	170979315	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.825000	0.69286	2.616000	0.88540	0.650000	0.86243	TGC		0.348	MYNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467801.1	NM_018657		A	169496621	G	A	169496621	3	1	761	1	0	0	0	0	1	0	0	0	10063	1319	46	2	338	2	MYNN	3	169496621	Missense_Mutation	SNP	G	TCGA-MH-A55W-01A-11D-A26P-10	40282185	169496621	28525809	19	44822											
KNG1	3827	hgsc.bcm.edu	37	3	186435425	186435425	+	Missense_Mutation	SNP	G	G	T			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr3:186435425G>T	ENST00000265023.4	+	1	306	c.94G>T	c.(94-96)Gat>Tat	p.D32Y	RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000287611.2_Missense_Mutation_p.D32Y|KNG1_ENST00000447445.1_Missense_Mutation_p.D32Y	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	32	Cystatin kininogen-type 1. {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)		CAATGACAAGGATTTATTTAA	0.393																																																0													119	121	121					3																	186435425		2203	4299	6502	SO:0001583	missense	3827				CCDS3281.1, CCDS43183.1, CCDS54695.1	3q27.3	2014-05-15	2004-05-21	2004-05-26	ENSG00000113889	ENSG00000113889		"Endogenous ligands"	6383	protein-coding gene	gene with protein product	"alpha-2-thiol proteinase inhibitor", "bradykinin"	612358	"kininogen"	KNG, BDK		1733668	Standard	NM_000893		Approved	BK	uc011bsa.2	P01042	OTTHUMG00000150348	ENST00000265023.4:c.94G>T	chr3.hg19:g.186435425G>T	ENSP00000265023:p.Asp32Tyr		A8K474|B2RCR2|C9JEX1|P01043|Q53EQ0|Q6PAU9|Q7M4P1	Missense_Mutation	SNP	ENST00000265023.4	hg19	CCDS43183.1	.	.	.	.	.	.	.	.	.	.	G	13.29	2.192786	0.38707	.	.	ENSG00000113889	ENST00000287611;ENST00000265023;ENST00000447445;ENST00000432028	T;T;T	0.29655	1.56;1.56;1.56	5.2	4.31	0.51392	Proteinase inhibitor I25, cystatin (2);	0.603229	0.15391	N	0.264803	T	0.51805	0.1696	M	0.71581	2.175	0.22017	N	0.999412	D;D	0.89917	0.994;1.0	D;D	0.72075	0.976;0.975	T	0.39014	-0.9634	10	0.51188	T	0.08	-6.5792	10.4191	0.44340	0.0929:0.0:0.9071:0.0	.	32;32	P01042;P01042-2	KNG1_HUMAN;.	Y	32;32;32;20	ENSP00000287611:D32Y;ENSP00000265023:D32Y;ENSP00000396025:D32Y	ENSP00000265023:D32Y	D	+	1	0	KNG1	187918119	0.221000	0.23642	0.035000	0.18076	0.403000	0.30841	2.124000	0.42006	1.302000	0.44855	0.455000	0.32223	GAT		0.393	KNG1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317738.1	NM_001102416		T	186435425	G	T	186435425	3	4	761	1	0	0	0	0	1	0	0	0	8429	1174	41	4	96	4	KNG1	3	186435425	Missense_Mutation	SNP	G	TCGA-MH-A55W-01A-11D-A26P-10	16938804	186435425	11587005	20	44823											
TBC1D19	55296	hgsc.bcm.edu	37	4	26585819	26585819	+	Silent	SNP	T	T	C			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr4:26585819T>C	ENST00000264866.4	+	1	282	c.4T>C	c.(4-6)Ttg>Ctg	p.L2L	TBC1D19_ENST00000511789.1_Silent_p.L2L	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	2							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)				AGGGGAAATGTTGCAGGAGGA	0.627																																																0													44	45	45					4																	26585819		2203	4298	6501	SO:0001819	synonymous_variant	55296			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.4T>C	chr4.hg19:g.26585819T>C			B9A6M0|Q9NUX1	Silent	SNP	ENST00000264866.4	hg19	CCDS3439.1																																																																																				0.627	TBC1D19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215052.2	NM_018317		C	26585819	T	C	26585819	2	2	761	1	0	0	0	0	0	0	0	1	15612	1722	60	3		3	TBC1D19	4	26585819	Silent	SNP	T	TCGA-MH-A55W-01A-11D-A26P-10		26585819	164568457	21	44824											
GRSF1	2926	hgsc.bcm.edu	37	4	71702003	71702003	+	Missense_Mutation	SNP	A	A	G			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr4:71702003A>G	ENST00000254799.6	-	2	503	c.386T>C	c.(385-387)cTt>cCt	p.L129P	GRSF1_ENST00000502323.1_5'UTR|GRSF1_ENST00000545193.1_Missense_Mutation_p.L11P|GRSF1_ENST00000508091.1_5'UTR|GRSF1_ENST00000439371.1_5'UTR	NM_002092.3	NP_002083	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1	129	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				anterior/posterior pattern specification (GO:0009952)|morphogenesis of embryonic epithelium (GO:0016331)|mRNA polyadenylation (GO:0006378)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			GGGTGGTGGAAGGTCTTCCAG	0.413																																																0													82	84	83					4																	71702003		1848	4089	5937	SO:0001583	missense	2926			BC040485	CCDS47069.1, CCDS47070.1	4q13	2013-07-16				ENSG00000132463		"RNA binding motif (RRM) containing"	4610	protein-coding gene	gene with protein product		604851				8036161	Standard	NM_001098477		Approved		uc010iia.1	Q12849		ENST00000254799.6:c.386T>C	chr4.hg19:g.71702003A>G	ENSP00000254799:p.Leu129Pro		B3KPW0|Q4W5S5|Q6ZST3|Q8IWD6|Q8NBD2	Missense_Mutation	SNP	ENST00000254799.6	hg19	CCDS47069.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.72|14.72	2.619082|2.619082	0.46736|0.46736	.|.	.|.	ENSG00000132463|ENSG00000132463	ENST00000514161|ENST00000254799;ENST00000540657;ENST00000499044;ENST00000545193	.|T;T;T	.|0.21734	.|2.05;2.03;1.99	4.51|4.51	4.51|4.51	0.55191|0.55191	.|RNA recognition motif domain (1);	.|0.718315	.|0.12425	.|N	.|0.470117	T|T	0.15998|0.15998	0.0385|0.0385	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	.|P;P	.|0.47350	.|0.79;0.894	.|B;P	.|0.45037	.|0.202;0.467	T|T	0.02917|0.02917	-1.1094|-1.1094	5|10	.|0.45353	.|T	.|0.12	-2.599|-2.599	5.3313|5.3313	0.15934|0.15934	0.6438:0.1816:0.0:0.1746|0.6438:0.1816:0.0:0.1746	.|.	.|42;129	.|B7Z5F9;Q12849	.|.;GRSF1_HUMAN	L|P	66|129;61;102;11	.|ENSP00000254799:L129P;ENSP00000427354:L102P;ENSP00000443380:L11P	.|ENSP00000254799:L129P	F|L	-|-	1|2	0|0	GRSF1|GRSF1	71920867|71920867	0.827000|0.827000	0.29292|0.29292	0.959000|0.959000	0.39883|0.39883	0.674000|0.674000	0.39518|0.39518	3.964000|3.964000	0.56780|0.56780	1.881000|1.881000	0.54492|0.54492	0.533000|0.533000	0.62120|0.62120	TTC|CTT		0.413	GRSF1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362642.1	NM_002092		G	71702003	A	G	71702003	3	3	761	1	0	0	0	0	1	0	0	0	6811	72	3	3	1088	3	GRSF1	4	71702003	Missense_Mutation	SNP	A	TCGA-MH-A55W-01A-11D-A26P-10	45116184	71702003	119452273	22	44825											
TBC1D9	23158	hgsc.bcm.edu	37	4	141600812	141600812	+	Silent	SNP	G	G	A			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr4:141600812G>A	ENST00000442267.2	-	4	620	c.546C>T	c.(544-546)agC>agT	p.S182S		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	182	GRAM 1.						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)				GGTGGTTAATGCTGAGGTACA	0.448																																																0													69	67	67					4																	141600812		1837	4092	5929	SO:0001819	synonymous_variant	23158			AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"EF-hand domain containing"	21710	protein-coding gene	gene with protein product			"TBC1 domain family, member 9"			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.546C>T	chr4.hg19:g.141600812G>A			A6H8U8|D3DNZ1|O94958	Silent	SNP	ENST00000442267.2	hg19	CCDS47136.1																																																																																				0.448	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130		A	141600812	G	A	141600812	2	1	761	1	0	0	0	0	0	0	0	1	15632	1310	46	2		2	TBC1D9	4	141600812	Silent	SNP	G	TCGA-MH-A55W-01A-11D-A26P-10	69898809	141600812	49553464	23	44826											
AHRR	57491	hgsc.bcm.edu	37	5	434928	434928	+	Silent	SNP	G	G	A	rs368088592		TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr5:434928G>A	ENST00000505113.1	+	11	2129	c.2085G>A	c.(2083-2085)tcG>tcA	p.S695S	AHRR_ENST00000316418.5_Silent_p.S713S|AHRR_ENST00000506456.1_Silent_p.S551S|AHRR_ENST00000512529.1_Silent_p.S541S	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	695	Needed for transcriptional repression. {ECO:0000250}.				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)			CCCAAGCTTCGGGGTGCACAT	0.627																																																0								G	,	0,4188		0,0,2094	10	15	14		2085,2139	-8.4	0	5		14	1,8379		0,1,4189	no	coding-synonymous,coding-synonymous	AHRR	NM_001242412.1,NM_020731.4	,	0,1,6283	AA,AG,GG		0.0119,0.0,0.0080	,	695/702,713/720	434928	1,12567	2094	4190	6284	SO:0001819	synonymous_variant	57491			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.2085G>A	chr5.hg19:g.434928G>A			A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Silent	SNP	ENST00000505113.1	hg19	CCDS56355.1																																																																																				0.627	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367720.1	NM_020731		A	434928	G	A	434928	2	1	761	1	0	0	0	0	0	0	0	1	417	1103	39	1		1	AHRR	5	434928	Silent	SNP	G	TCGA-MH-A55W-01A-11D-A26P-10		434928	180480332	24	44827											
EGFLAM	133584	hgsc.bcm.edu	37	5	38418272	38418272	+	Silent	SNP	C	C	A			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr5:38418272C>A	ENST00000354891.3	+	12	1945	c.1599C>A	c.(1597-1599)ggC>ggA	p.G533G	EGFLAM_ENST00000322350.5_Silent_p.G533G|EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000336740.6_Silent_p.G299G	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	533	Laminin G-like 1. {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)					GCTTTCAAGGCTGTGTGCAGT	0.542																																					Colon(62;485 1295 3347 17454)											0													96	100	98					5																	38418272		2203	4300	6503	SO:0001819	synonymous_variant	133584			AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"Fibronectin type III domain containing"	26810	protein-coding gene	gene with protein product	"pikachurin", "agrin-like"					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.1599C>A	chr5.hg19:g.38418272C>A			A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Silent	SNP	ENST00000354891.3	hg19	CCDS56363.1																																																																																				0.542	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		A	38418272	C	A	38418272	2	1	761	1	0	0	0	0	0	0	0	1	4968	784	28	4		4	EGFLAM	5	38418272	Silent	SNP	C	TCGA-MH-A55W-01A-11D-A26P-10	37983344	38418272	142496988	25	44828											
GPR98	84059	hgsc.bcm.edu	37	5	89979468	89979468	+	Silent	SNP	T	T	C			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr5:89979468T>C	ENST00000405460.2	+	28	5826	c.5730T>C	c.(5728-5730)gaT>gaC	p.D1910D		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1910	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)		CTGATCCTGATGGTGATCTCG	0.418																																																0													69	70	70					5																	89979468		1951	4141	6092	SO:0001819	synonymous_variant	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.5730T>C	chr5.hg19:g.89979468T>C			O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	hg19	CCDS47246.1																																																																																				0.418	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		C	89979468	T	C	89979468	2	2	761	1	0	0	0	0	0	0	0	1	6723	1461	51	3		3	GPR98	5	89979468	Silent	SNP	T	TCGA-MH-A55W-01A-11D-A26P-10	51561196	89979468	90935792	26	44829											
STK10	6793	hgsc.bcm.edu	37	5	171471934	171471934	+	Silent	SNP	T	T	G			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr5:171471934T>G	ENST00000176763.5	-	19	3202	c.2859A>C	c.(2857-2859)ccA>ccC	p.P953P		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	953					cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CGGCCTTGCTTGGGGTGGAGG	0.607																																																0													83	77	79					5																	171471934		2203	4300	6503	SO:0001819	synonymous_variant	6793			AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.2859A>C	chr5.hg19:g.171471934T>G			A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Silent	SNP	ENST00000176763.5	hg19	CCDS34290.1																																																																																				0.607	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372374.2	NM_005990		G	171471934	T	G	171471934	2	3	761	1	0	0	0	0	0	0	0	1	15291	1799	63	5		5	STK10	5	171471934	Silent	SNP	T	TCGA-MH-A55W-01A-11D-A26P-10	81492466	171471934	9443326	27	44830											
NSD1	64324	hgsc.bcm.edu	37	5	176709581	176709584	+	Splice_Site	DEL	AAGT	AAGT	-			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10	AAGT	AAGT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr5:176709581_176709584delAAGT	ENST00000439151.2	+	19	6053_6054	c.6008_6009delAAGT	c.(6007-6009)aaa>a	p.K2003fs	NSD1_ENST00000361032.4_Splice_Site_p.K1900fs|NSD1_ENST00000354179.4_Splice_Site_p.K1734fs|NSD1_ENST00000347982.4_Splice_Site_p.K1734fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2003	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				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)		ACCCTAGACAAAGTAAGTAATGGG	0.397			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																													Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0																																										SO:0001630	splice_region_variant	64324	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.6009+1AAGT>-	chr5.hg19:g.176709585_176709588delAAGT			Q96PD8|Q96RN7	In_Frame_Del	DEL	ENST00000439151.2	hg19	CCDS4412.1																																																																																				0.397	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349	Frame_Shift_Del	-	176709584	AAGT	-	176709581	8	5	761	1	0	1	0	1	0	0	1	0	10671	28	1	0	6078	0	NSD1	5	176709581	Splice_Site	DEL	AAGT	TCGA-MH-A55W-01A-11D-A26P-10	5237647	176709581	4205679	28	44831											
TNXB	7148	hgsc.bcm.edu	37	6	32038155	32038155	+	Missense_Mutation	SNP	C	C	T			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr6:32038155C>T	ENST00000375244.3	-	14	5228	c.5027G>A	c.(5026-5028)cGc>cAc	p.R1676H	TNXB_ENST00000375247.2_Missense_Mutation_p.R1676H			P22105	TENX_HUMAN	tenascin XB	1758	Fibronectin type-III 9. {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						CTCCCCAAGGCGGGGTGGGGC	0.597																																																0													14	16	15					6																	32038155		1903	4094	5997	SO:0001583	missense	7148			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.5027G>A	chr6.hg19:g.32038155C>T	ENSP00000364393:p.Arg1676His		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	hg19		.	.	.	.	.	.	.	.	.	.	C	11.28	1.593489	0.28357	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.04603	3.59;3.59	4.34	0.318	0.15867	.	0.470849	0.16112	N	0.229047	T	0.03263	0.0095	M	0.88241	2.94	0.23773	N	0.996888	B	0.26775	0.159	B	0.23716	0.048	T	0.22173	-1.0224	10	0.49607	T	0.09	.	8.1222	0.30978	0.0:0.6178:0.0:0.3822	.	1676	P22105-3	.	H	1676	ENSP00000364393:R1676H;ENSP00000364396:R1676H	ENSP00000364393:R1676H	R	-	2	0	TNXB	32146133	0.991000	0.36638	0.989000	0.46669	0.365000	0.29674	0.675000	0.25232	0.160000	0.19432	-0.302000	0.09304	CGC		0.597	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		T	32038155	C	T	32038155	3	4	761	1	0	0	0	0	1	0	0	0	16351	768	27	1	9810	1	TNXB	6	32038155	Missense_Mutation	SNP	C	TCGA-MH-A55W-01A-11D-A26P-10		32038155	139076912	29	44832											
KCNK5	8645	hgsc.bcm.edu	37	6	39159405	39159412	+	Frame_Shift_Del	DEL	TTGTGGAC	TTGTGGAC	-	rs13208158	byFrequency	TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10	TTGTGGAC	TTGTGGAC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr6:39159405_39159412delTTGTGGAC	ENST00000359534.3	-	5	1092_1099	c.754_761delGTCCACAA	c.(754-762)gtccacaaafs	p.VHK252fs		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	252					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						CTTAATGGCTTTGTGGACTTCCACAAAC	0.591																																																0																																										SO:0001589	frameshift_variant	8645			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.754_761delGTCCACAA	chr6.hg19:g.39159405_39159412delTTGTGGAC	ENSP00000352527:p.Val252fs		B2RAQ6|B5TJL2|Q5VV76	Frame_Shift_Del	DEL	ENST00000359534.3	hg19	CCDS4841.1																																																																																				0.591	KCNK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040449.1	NM_003740		-	39159412	TTGTGGAC	-	39159405	7	5	761	1	0	1	0	1	0	0	0	0	8071	1841	64	0	742	0	KCNK5	6	39159405	Frame_Shift_Del	DEL	TTGTGGAC	TCGA-MH-A55W-01A-11D-A26P-10	7121250	39159405	131955662	30	44833											
PKHD1	5314	hgsc.bcm.edu	37	6	51768400	51768400	+	Missense_Mutation	SNP	T	T	G			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr6:51768400T>G	ENST00000371117.3	-	43	7266	c.6991A>C	c.(6991-6993)Ata>Cta	p.I2331L	PKHD1_ENST00000340994.4_Missense_Mutation_p.I2331L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2331			I -> K (in ARPKD). {ECO:0000269|PubMed:11919560, ECO:0000269|PubMed:12506140}.		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)					CTTACCTCTATAACATTGGTG	0.478																																																0													173	163	167					6																	51768400		2203	4300	6503	SO:0001583	missense	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.6991A>C	chr6.hg19:g.51768400T>G	ENSP00000360158:p.Ile2331Leu		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	hg19	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	T	7.897	0.733493	0.15574	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.82803	-1.65;-1.65	5.87	-2.49	0.06403	Pectin lyase fold/virulence factor (1);Pectin lyase fold (1);	0.766468	0.11605	N	0.547353	T	0.44074	0.1276	N	0.12182	0.205	0.09310	N	1	B;B;B	0.15141	0.012;0.006;0.012	B;B;B	0.17722	0.008;0.007;0.019	T	0.39440	-0.9614	10	0.44086	T	0.13	.	6.1429	0.20269	0.0:0.2716:0.2385:0.4899	.	2331;2331;2331	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	L	2331	ENSP00000360158:I2331L;ENSP00000341097:I2331L	ENSP00000341097:I2331L	I	-	1	0	PKHD1	51876359	0.002000	0.14202	0.004000	0.12327	0.326000	0.28443	-0.160000	0.10041	-0.465000	0.06953	0.528000	0.53228	ATA		0.478	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		G	51768400	T	G	51768400	3	3	761	1	0	0	0	0	1	0	0	0	11973	1406	49	5	5372	5	PKHD1	6	51768400	Missense_Mutation	SNP	T	TCGA-MH-A55W-01A-11D-A26P-10	12608995	51768400	119346667	31	44834											
GCM1	8521	hgsc.bcm.edu	37	6	52993368	52993369	+	In_Frame_Ins	INS	-	-	AAA			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr6:52993368_52993369insAAA	ENST00000259803.7	-	6	1157_1158	c.946_947insTTT	c.(946-948)tat>tTTTat	p.315_316insF	RP11-506E9.3_ENST00000566420.1_RNA	NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	315					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)					AGGAAAAGGATAATTGGAATAA	0.48																																																0																																										SO:0001652	inframe_insertion	8521			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.946_947insTTT	chr6.hg19:g.52993368_52993369insAAA	ENSP00000259803:p.Asn315_Tyr316insPhe		Q4VAQ7|Q5T0X0|Q99468|Q9P1X3	In_Frame_Ins	INS	ENST00000259803.7	hg19	CCDS4950.1																																																																																				0.48	GCM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040953.1			AAA	52993369	-	AAA	52993368	7	5	761	1	0	1	1	0	0	0	0	0	6299	1406	49	0	367	0	GCM1	6	52993368	In_Frame_Ins	INS	-	TCGA-MH-A55W-01A-11D-A26P-10	1224968	52993368	118121699	32	44835											
AKAP12	9590	hgsc.bcm.edu	37	6	151671659	151671659	+	Frame_Shift_Del	DEL	C	C	-			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr6:151671659delC	ENST00000253332.1	+	3	2322	c.2133delC	c.(2131-2133)cacfs	p.H711fs	AKAP12_ENST00000402676.2_Frame_Shift_Del_p.H711fs|AKAP12_ENST00000359755.5_Frame_Shift_Del_p.H606fs|AKAP12_ENST00000354675.6_Frame_Shift_Del_p.H613fs			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	711					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GAGGAGACCACCAGAAAGCTG	0.532																																					Melanoma(141;1616 1805 10049 24534 51979)											0													96	106	103					6																	151671659		2203	4300	6503	SO:0001589	frameshift_variant	9590			U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"A-kinase anchor proteins"	370	protein-coding gene	gene with protein product	"gravin", "Src-Suppressed C Kinase Substrate"	604698	"A kinase (PRKA) anchor protein (gravin) 12"			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.2133delC	chr6.hg19:g.151671659delC	ENSP00000253332:p.His711fs		O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Frame_Shift_Del	DEL	ENST00000253332.1	hg19	CCDS5229.1																																																																																				0.532	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			-	151671659	C	-	151671659	7	5	761	1	0	1	0	1	0	0	0	0	448	506	18	0	2172	0	AKAP12	6	151671659	Frame_Shift_Del	DEL	C	TCGA-MH-A55W-01A-11D-A26P-10	98678291	151671659	19443408	33	44836											
ZBTB2	57621	hgsc.bcm.edu	37	6	151686673	151686676	+	Frame_Shift_Del	DEL	TTTC	TTTC	-	rs143773461		TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10	TTTC	TTTC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr6:151686673_151686676delTTTC	ENST00000325144.4	-	3	1665_1668	c.1525_1528delGAAA	c.(1525-1530)gaaaccfs	p.ET509fs		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	509					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.E509K(2)		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)		AGTAAGACGGTTTCTTGTTCCTTT	0.446																																																2	Substitution - Missense(2)	lung(1)|skin(1)																																								SO:0001589	frameshift_variant	57621			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.1525_1528delGAAA	chr6.hg19:g.151686673_151686676delTTTC	ENSP00000323183:p.Glu509fs		A8K7C7|Q5SZ81|Q9P245	Frame_Shift_Del	DEL	ENST00000325144.4	hg19	CCDS5231.1																																																																																				0.446	ZBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042715.1	NM_020861		-	151686676	TTTC	-	151686673	7	5	761	1	0	1	0	1	0	0	0	0	17533	1725	60	0	20	0	ZBTB2	6	151686673	Frame_Shift_Del	DEL	TTTC	TCGA-MH-A55W-01A-11D-A26P-10	15014	151686673	19428394	34	44837											
BBS9	27241	hgsc.bcm.edu	37	7	33380559	33380559	+	Missense_Mutation	SNP	G	G	C			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr7:33380559G>C	ENST00000242067.6	+	11	1770	c.1249G>C	c.(1249-1251)Gtt>Ctt	p.V417L	BBS9_ENST00000354265.4_Missense_Mutation_p.V417L|BBS9_ENST00000396127.2_Missense_Mutation_p.V417L|BBS9_ENST00000355070.2_Missense_Mutation_p.V417L|BBS9_ENST00000350941.3_Missense_Mutation_p.V417L	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	417					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)			TTCTGTCGTGGTTTCTCCTAA	0.338									Bardet-Biedl syndrome																																							0													187	175	179					7																	33380559		2203	4300	6503	SO:0001583	missense	27241	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome		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.1249G>C	chr7.hg19:g.33380559G>C	ENSP00000242067:p.Val417Leu		E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Missense_Mutation	SNP	ENST00000242067.6	hg19	CCDS43566.1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.515586	0.44763	.	.	ENSG00000122507	ENST00000242067;ENST00000350941;ENST00000396127;ENST00000355070;ENST00000354265;ENST00000396132;ENST00000396125;ENST00000537775	D;D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86;-1.86	4.48	4.48	0.54585	.	0.000000	0.85682	D	0.000000	D	0.84727	0.5536	M	0.62723	1.935	0.80722	D	1	P;P;B;P	0.34864	0.473;0.473;0.245;0.473	B;B;B;B	0.42112	0.133;0.376;0.169;0.376	T	0.82524	-0.0414	10	0.31617	T	0.26	-21.4487	12.2466	0.54574	0.0859:0.0:0.9141:0.0	.	417;417;417;417	Q3SYG4-2;E9PDC9;Q3SYG4-4;Q3SYG4	.;.;.;PTHB1_HUMAN	L	417;417;417;417;417;417;417;295	ENSP00000242067:V417L;ENSP00000313122:V417L;ENSP00000379433:V417L;ENSP00000347182:V417L;ENSP00000346214:V417L	ENSP00000242067:V417L	V	+	1	0	BBS9	33347084	0.998000	0.40836	0.341000	0.25589	0.957000	0.61999	3.026000	0.49689	2.433000	0.82419	0.650000	0.86243	GTT		0.338	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329064.1			C	33380559	G	C	33380559	3	2	761	1	0	0	0	0	1	0	0	0	1342	1261	44	4	1287	4	BBS9	7	33380559	Missense_Mutation	SNP	G	TCGA-MH-A55W-01A-11D-A26P-10		33380559	125758104	35	44838											
GBAS	2631	hgsc.bcm.edu	37	7	56046042	56046042	+	Splice_Site	SNP	G	G	C			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr7:56046042G>C	ENST00000322090.3	+	3	261		c.e3-1		GBAS_ENST00000446778.1_Intron|GBAS_ENST00000487370.1_Splice_Site	NM_001483.2	NP_001474.1	O75323	NIPS2_HUMAN	glioblastoma amplified sequence						ATP biosynthetic process (GO:0006754)|negative regulation of ATP citrate synthase activity (GO:2000984)|oxidative phosphorylation (GO:0006119)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TTTTGTTTCAGTTCACAATGT	0.323																																																0													178	160	166					7																	56046042		2203	4300	6503	SO:0001630	splice_region_variant	2631			AF029786	CCDS5521.1, CCDS56488.1	7p12	2014-03-11			ENSG00000146729	ENSG00000146729			4179	protein-coding gene	gene with protein product		603004				9615231, 9661659, 20888800	Standard	NM_001483		Approved	NIPSNAP2	uc003tre.2	O75323	OTTHUMG00000022932	ENST00000322090.3:c.233-1G>C	chr7.hg19:g.56046042G>C			C9IYJ3|O43801|Q53X96	Splice_Site	SNP	ENST00000322090.3	hg19	CCDS5521.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.279038	0.80692	.	.	ENSG00000146729	ENST00000322090	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0588	0.93078	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GBAS	56013536	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.510000	0.98004	2.744000	0.94065	0.655000	0.94253	.		0.323	GBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251524.1	NM_001483	Intron	C	56046042	G	C	56046042	5	2	761	1	0	0	0	0	0	0	1	0	6271	1043	36	4	242	4	GBAS	7	56046042	Splice_Site	SNP	G	TCGA-MH-A55W-01A-11D-A26P-10	22665483	56046042	103092621	36	44839											
TAF6	6878	hgsc.bcm.edu	37	7	99711723	99711723	+	Frame_Shift_Del	DEL	T	T	-			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr7:99711723delT	ENST00000344095.4	-	2	635	c.110delA	c.(109-111)cagfs	p.Q37fs	TAF6_ENST00000497233.1_5'Flank|TAF6_ENST00000452041.1_Frame_Shift_Del_p.Q37fs|RP11-506M12.1_ENST00000494221.1_RNA|TAF6_ENST00000418432.2_5'UTR|TAF6_ENST00000472509.1_Frame_Shift_Del_p.Q94fs|TAF6_ENST00000453269.2_Frame_Shift_Del_p.Q37fs|TAF6_ENST00000437822.2_Frame_Shift_Del_p.Q74fs	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	37					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|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)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CGTTAGCAGCTGGCAGGTCTC	0.582																																																0													140	126	130					7																	99711723		2203	4300	6503	SO:0001589	frameshift_variant	6878				CCDS5686.1, CCDS55135.1	7q	2010-02-26	2002-08-29	2001-12-07	ENSG00000106290	ENSG00000106290			11540	protein-coding gene	gene with protein product	"TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80 kD", "transcription initiation factor TFIID 70 kD subunit"	602955	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, E, 70/85kD"	TAF2E		826207	Standard	NM_139315		Approved	TAFII70, TAFII80, MGC:8964, TAFII85	uc011kji.2	P49848	OTTHUMG00000154771	ENST00000344095.4:c.110delA	chr7.hg19:g.99711723delT	ENSP00000344537:p.Gln37fs		A4D2B2|A4D2B3|B4DT11|D6W5U2|Q6AI29	Frame_Shift_Del	DEL	ENST00000344095.4	hg19	CCDS5686.1																																																																																				0.582	TAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337024.2	NM_005641		-	99711723	T	-	99711723	7	5	761	1	0	1	0	1	0	0	0	0	15535	1580	55	0	1979	0	TAF6	7	99711723	Frame_Shift_Del	DEL	T	TCGA-MH-A55W-01A-11D-A26P-10	43665681	99711723	59426940	37	44840											
GOLGA2	2801	hgsc.bcm.edu	37	9	131021446	131021446	+	Splice_Site	SNP	C	C	T			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr9:131021446C>T	ENST00000421699.2	-	19	2028	c.2016G>A	c.(2014-2016)caG>caA	p.Q672Q	GOLGA2_ENST00000609374.1_Splice_Site_p.Q660Q|AL590708.1_ENST00000408370.1_RNA	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	672					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						ACTCCCTCACCTGGGTTTCCT	0.632																																																0													42	46	45					9																	131021446		2203	4300	6503	SO:0001630	splice_region_variant	2801			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.2016+1G>A	chr9.hg19:g.131021446C>T			Q6GRM9|Q9BRB0|Q9NYF9	Silent	SNP	ENST00000421699.2	hg19	CCDS6896.2																																																																																				0.632	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054358.2	NM_004486	Silent	T	131021446	C	T	131021446	5	4	761	1	0	0	0	0	0	0	1	0	6554	695	24	2	1024	2	GOLGA2	9	131021446	Splice_Site	SNP	C	TCGA-MH-A55W-01A-11D-A26P-10		131021446	10191985	38	44841											
NRG3	10718	hgsc.bcm.edu	37	10	83635808	83635808	+	Missense_Mutation	SNP	T	T	C			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr10:83635808T>C	ENST00000404547.1	+	1	712	c.712T>C	c.(712-714)Tct>Cct	p.S238P	NRG3_ENST00000372141.2_Missense_Mutation_p.S238P|NRG3_ENST00000404576.2_5'Flank|NRG3_ENST00000372142.2_5'Flank|NRG3_ENST00000556918.1_5'Flank			P56975	NRG3_HUMAN	neuregulin 3	238	Ser/Thr-rich.				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)		CCTTCACGATTCTACTCCCTC	0.602																																																0													100	74	83					10																	83635808		2203	4300	6503	SO:0001583	missense	10718			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.712T>C	chr10.hg19:g.83635808T>C	ENSP00000384796:p.Ser238Pro		A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	ENST00000404547.1	hg19	CCDS31233.1	.	.	.	.	.	.	.	.	.	.	T	17.05	3.288753	0.59976	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287	T;T	0.32515	1.45;1.46	4.14	4.14	0.48551	.	0.174325	0.27831	N	0.017667	T	0.35913	0.0948	L	0.36672	1.1	0.80722	D	1	D;D	0.64830	0.994;0.994	P;P	0.54759	0.76;0.76	T	0.13282	-1.0515	10	0.59425	D	0.04	-18.5043	11.474	0.50286	0.0:0.0:0.0:1.0	.	238;238	B9EGV5;P56975-4	.;.	P	238	ENSP00000361214:S238P;ENSP00000384796:S238P	ENSP00000361214:S238P	S	+	1	0	NRG3	83625788	0.998000	0.40836	0.059000	0.19551	0.993000	0.82548	5.633000	0.67825	1.879000	0.54435	0.529000	0.55759	TCT		0.602	NRG3-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412262.1	XM_166086		C	83635808	T	C	83635808	3	2	761	1	0	0	0	0	1	0	0	0	10651	1783	62	3	714	3	NRG3	10	83635808	Missense_Mutation	SNP	T	TCGA-MH-A55W-01A-11D-A26P-10		83635808	51898939	39	44842											
CYP2C8	1558	hgsc.bcm.edu	37	10	96818110	96818110	+	Missense_Mutation	SNP	G	G	C			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr10:96818110G>C	ENST00000371270.3	-	5	895	c.801C>G	c.(799-801)ttC>ttG	p.F267L	CYP2C8_ENST00000539050.1_Missense_Mutation_p.F181L|CYP2C8_ENST00000535898.1_Missense_Mutation_p.F165L	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	267					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)	TTTTGATCAGGAAGCAATCGA	0.353																																																0													163	145	151					10																	96818110		2203	4300	6503	SO:0001583	missense	1558			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.801C>G	chr10.hg19:g.96818110G>C	ENSP00000360317:p.Phe267Leu		A8K9N8|B0AZN2|B7Z1F6|Q5VX93|Q8WWB1|Q9UCZ9	Missense_Mutation	SNP	ENST00000371270.3	hg19	CCDS7438.1	.	.	.	.	.	.	.	.	.	.	G	11.16	1.557052	0.27827	.	.	ENSG00000138115	ENST00000371270;ENST00000535868;ENST00000535898;ENST00000539050	T;T;T	0.06687	3.27;3.27;3.27	4.17	-0.451	0.12214	.	0.000000	0.85682	U	0.000000	T	0.07638	0.0192	L	0.29908	0.895	0.29573	N	0.849721	P;P;P;P	0.50617	0.922;0.937;0.779;0.937	P;P;P;P	0.50109	0.459;0.594;0.631;0.49	T	0.16424	-1.0403	10	0.49607	T	0.09	.	4.5328	0.12013	0.2874:0.0:0.5591:0.1535	.	181;165;235;267	F5H7Q9;B7Z1F6;B7Z8S1;P10632	.;.;.;CP2C8_HUMAN	L	267;234;165;181	ENSP00000360317:F267L;ENSP00000445062:F165L;ENSP00000442343:F181L	ENSP00000360317:F267L	F	-	3	2	CYP2C8	96808100	0.998000	0.40836	0.741000	0.31004	0.173000	0.22820	0.270000	0.18607	0.011000	0.14865	0.305000	0.20034	TTC		0.353	CYP2C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049499.2	NM_000770		C	96818110	G	C	96818110	3	2	761	1	0	0	0	0	1	0	0	0	4169	1165	41	4	691	4	CYP2C8	10	96818110	Missense_Mutation	SNP	G	TCGA-MH-A55W-01A-11D-A26P-10	13182302	96818110	38716637	40	44843											
SORBS1	10580	hgsc.bcm.edu	37	10	97096528	97096528	+	Missense_Mutation	SNP	T	T	G			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr10:97096528T>G	ENST00000361941.3	-	28	3415	c.3389A>C	c.(3388-3390)aAa>aCa	p.K1130T	SORBS1_ENST00000393949.1_Intron|SORBS1_ENST00000277982.5_Missense_Mutation_p.K989T|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000354106.3_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000371247.2_Missense_Mutation_p.K1130T|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000353505.5_Intron|SORBS1_ENST00000371246.2_Missense_Mutation_p.K989T|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000371227.4_Missense_Mutation_p.K1084T	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1											NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		CCTCTCTGCTTTCCTCTCATA	0.552																																																0													74	71	72					10																	97096528		2203	4300	6503	SO:0001583	missense	10580			AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"c-Cbl-associated protein"	605264	"SH3-domain protein 5 (ponsin)"	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.3389A>C	chr10.hg19:g.97096528T>G	ENSP00000355136:p.Lys1130Thr			Missense_Mutation	SNP	ENST00000361941.3	hg19	CCDS31255.1	.	.	.	.	.	.	.	.	.	.	T	12.02	1.813778	0.32053	.	.	ENSG00000095637	ENST00000371247;ENST00000371227;ENST00000371246;ENST00000361941;ENST00000277982	T;T;T;T;T	0.08984	3.09;3.03;3.38;3.09;3.38	5.58	3.22	0.36961	.	0.488362	0.17388	N	0.176042	T	0.04815	0.0130	N	0.19112	0.55	0.80722	D	1	B;B;B	0.30281	0.275;0.079;0.275	B;B;B	0.27076	0.076;0.035;0.076	T	0.46331	-0.9199	10	0.15499	T	0.54	-0.5924	7.5752	0.27931	0.0:0.1794:0.0:0.8206	.	1084;1130;989	Q9BX66-11;Q9BX66;Q9BX66-2	.;SRBS1_HUMAN;.	T	1130;1084;989;1130;989	ENSP00000360293:K1130T;ENSP00000360271:K1084T;ENSP00000360292:K989T;ENSP00000355136:K1130T;ENSP00000277982:K989T	ENSP00000277982:K989T	K	-	2	0	SORBS1	97086518	0.873000	0.30073	0.996000	0.52242	0.854000	0.48673	0.144000	0.16135	0.406000	0.25560	0.459000	0.35465	AAA		0.552	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049517.1			G	97096528	T	G	97096528	3	3	761	1	0	0	0	0	1	0	0	0	14933	1841	64	5	569	5	SORBS1	10	97096528	Missense_Mutation	SNP	T	TCGA-MH-A55W-01A-11D-A26P-10	278418	97096528	38438219	41	44844											
GPR123	84435	hgsc.bcm.edu	37	10	134912186	134912187	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10	TT	TT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr10:134912186_134912187delTT	ENST00000392607.3	+	4	610_611	c.174_175delTT	c.(172-177)aatttcfs	p.F59fs	GPR123_ENST00000607359.1_Frame_Shift_Del_p.F779fs	NM_001083909.1	NP_001077378.1	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	59					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CGCTCCTGAATTTCTGCTTCCA	0.658																																																0																																										SO:0001589	frameshift_variant	84435			AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177		"-", "GPCR / Class B : Orphans"	13838	protein-coding gene	gene with protein product		612302				12565841	Standard	XM_005252695		Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304	ENST00000392607.3:c.174_175delTT	chr10.hg19:g.134912186_134912187delTT	ENSP00000376384:p.Phe59fs		A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Frame_Shift_Del	DEL	ENST00000392607.3	hg19	CCDS41580.1																																																																																				0.658	GPR123-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051113.2			-	134912187	TT	-	134912186	7	5	761	1	0	1	0	1	0	0	0	0	6639	1490	52	0	184	0	GPR123	10	134912186	Frame_Shift_Del	DEL	TT	TCGA-MH-A55W-01A-11D-A26P-10	37815658	134912186	622561	42	44845											
MARK2	2011	hgsc.bcm.edu	37	11	63671476	63671476	+	Silent	SNP	C	C	G			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr11:63671476C>G	ENST00000509502.2	+	15	1894	c.1431C>G	c.(1429-1431)tcC>tcG	p.S477S	MARK2_ENST00000377809.4_Silent_p.S511S|MARK2_ENST00000508192.1_Intron|MARK2_ENST00000425897.2_Intron|MARK2_ENST00000513765.2_Silent_p.S478S|MARK2_ENST00000402010.2_Silent_p.S511S|MARK2_ENST00000502399.3_Silent_p.S510S|MARK2_ENST00000377810.3_Intron|MARK2_ENST00000315032.8_Silent_p.S511S|MARK2_ENST00000350490.7_Intron|MARK2_ENST00000413835.2_Intron|MARK2_ENST00000408948.3_Intron|MARK2_ENST00000361128.5_Intron	NM_017490.3	NP_059672.2			MAP/microtubule affinity-regulating kinase 2											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						TGCCAGGGTCCCGGGCCTCCA	0.652																																																0													39	41	40					11																	63671476		1818	4074	5892	SO:0001819	synonymous_variant	2011			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.1431C>G	chr11.hg19:g.63671476C>G				Silent	SNP	ENST00000509502.2	hg19	CCDS41665.1																																																																																				0.652	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360862.2	NM_017490		G	63671476	C	G	63671476	2	3	761	1	0	0	0	0	0	0	0	1	9315	610	22	4		4	MARK2	11	63671476	Silent	SNP	C	TCGA-MH-A55W-01A-11D-A26P-10		63671476	71335040	43	44846											
DPF2	5977	hgsc.bcm.edu	37	11	65107956	65107956	+	Missense_Mutation	SNP	C	C	G			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr11:65107956C>G	ENST00000528416.1	+	2	266	c.133C>G	c.(133-135)Cag>Gag	p.Q45E	DPF2_ENST00000252268.4_Missense_Mutation_p.Q45E|DPF2_ENST00000532264.1_Intron|DPF2_ENST00000415073.2_Missense_Mutation_p.Q45E	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	45					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						CTTGGACTCACAGACCGGAGT	0.562																																																0													102	103	103					11																	65107956		2201	4297	6498	SO:0001583	missense	5977			U94585	CCDS8100.1	11q13.1	2014-05-13	2003-10-06	2003-10-08	ENSG00000133884	ENSG00000133884		"Zinc fingers, PHD-type"	9964	protein-coding gene	gene with protein product		601671	"requiem, apoptosis response zinc finger gene"	REQ		11845289	Standard	NM_006268		Approved	ubi-d4, BAF45d	uc001odm.3	Q92785	OTTHUMG00000165985	ENST00000528416.1:c.133C>G	chr11.hg19:g.65107956C>G	ENSP00000436901:p.Gln45Glu		A8K7C9|B4DT58	Missense_Mutation	SNP	ENST00000528416.1	hg19	CCDS8100.1	.	.	.	.	.	.	.	.	.	.	C	32	5.118519	0.94385	.	.	ENSG00000133884	ENST00000528416;ENST00000415073;ENST00000252268	D;D;D	0.92647	-3.06;-3.06;-3.08	5.52	5.52	0.82312	.	0.000000	0.35870	N	0.002937	D	0.96269	0.8783	M	0.83953	2.67	0.80722	D	1	D;D;D	0.76494	0.963;0.999;0.963	D;D;D	0.91635	0.973;0.999;0.973	D	0.96656	0.9485	10	0.87932	D	0	-25.3906	16.9414	0.86219	0.0:1.0:0.0:0.0	.	45;45;45	B4DT58;E9PN04;Q92785	.;.;REQU_HUMAN	E	45	ENSP00000436901:Q45E;ENSP00000399714:Q45E;ENSP00000252268:Q45E	ENSP00000252268:Q45E	Q	+	1	0	DPF2	64864532	1.000000	0.71417	0.968000	0.41197	0.994000	0.84299	7.818000	0.86416	2.588000	0.87417	0.655000	0.94253	CAG		0.562	DPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387293.3	NM_006268		G	65107956	C	G	65107956	3	3	761	1	0	0	0	0	1	0	0	0	4719	479	17	4	139	4	DPF2	11	65107956	Missense_Mutation	SNP	C	TCGA-MH-A55W-01A-11D-A26P-10	1436480	65107956	69898560	44	44847											
FAT3	120114	hgsc.bcm.edu	37	11	92599961	92599961	+	Missense_Mutation	SNP	T	T	A			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr11:92599961T>A	ENST00000298047.6	+	21	11730	c.11713T>A	c.(11713-11715)Ttg>Atg	p.L3905M	FAT3_ENST00000409404.2_Missense_Mutation_p.L3905M|FAT3_ENST00000525166.1_Missense_Mutation_p.L3755M|FAT3_ENST00000533797.1_Missense_Mutation_p.L240M			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3905	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)				CCCTGGAATCTTGGGCATCTC	0.592										TCGA Ovarian(4;0.039)																																						0													29	34	32					11																	92599961		2046	4196	6242	SO:0001583	missense	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.11713T>A	chr11.hg19:g.92599961T>A	ENSP00000298047:p.Leu3905Met		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	hg19		.	.	.	.	.	.	.	.	.	.	T	14.78	2.638068	0.47153	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66	5.77	-6.79	0.01715	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.65688	0.2715	L	0.35414	1.06	0.80722	D	1	P;P	0.39601	0.68;0.645	B;B	0.43194	0.249;0.411	T	0.61367	-0.7077	9	0.49607	T	0.09	.	24.6348	0.99991	0.0:0.8789:0.0:0.1211	.	3905;3905	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	M	3905;3905;3755;240	ENSP00000298047:L3905M;ENSP00000387040:L3905M;ENSP00000432586:L3755M;ENSP00000436399:L240M	ENSP00000298047:L3905M	L	+	1	2	FAT3	92239609	0.086000	0.21541	0.260000	0.24451	0.815000	0.46073	-0.484000	0.06528	-1.317000	0.02292	-0.379000	0.06801	TTG		0.592	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		A	92599961	T	A	92599961	3	1	761	1	0	0	0	0	1	0	0	0	5693	1606	56	5	11795	5	FAT3	11	92599961	Missense_Mutation	SNP	T	TCGA-MH-A55W-01A-11D-A26P-10	27492005	92599961	42406555	45	44848											
C2CD2L	9854	hgsc.bcm.edu	37	11	118984691	118984704	+	Splice_Site	DEL	TTTCCAAGGTAACA	TTTCCAAGGTAACA	-			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10	TTTCCAAGGTAACA	TTTCCAAGGTAACA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr11:118984691_118984704delTTTCCAAGGTAACA	ENST00000528586.1	+	8	930_937	c.860_867delTTTCCAAGGTAACA	c.(859-867)gtttccaag>g	p.VSK287fs	C2CD2L_ENST00000336702.3_Splice_Site_p.VSK540fs			O14523	C2C2L_HUMAN	C2CD2-like	539						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						ATCTCTGGTGTTTCCAAGGTAACAGGGCTCTGGG	0.598																																																0																																										SO:0001630	splice_region_variant	9854			AK025223	CCDS8413.1	11q23.3	2008-04-22	2008-04-22	2008-04-22		ENSG00000172375			29000	protein-coding gene	gene with protein product			"transmembrane protein 24"	TMEM24		15289880	Standard	XM_005271738		Approved	KIAA0285	uc001pvn.3	O14523		ENST00000528586.1:c.867+1TTTCCAAGGTAACA>-	chr11.hg19:g.118984691_118984704delTTTCCAAGGTAACA			Q86UT7|Q86V04|Q8N522|Q8TBN4|Q96G10	In_Frame_Del	DEL	ENST00000528586.1	hg19																																																																																					0.598	C2CD2L-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000388199.2	NM_014807	Frame_Shift_Del	-	118984704	TTTCCAAGGTAACA	-	118984691	8	5	761	1	0	1	0	1	0	0	1	0	2155	1725	60	0	1665	0	C2CD2L	11	118984691	Splice_Site	DEL	TTTCCAAGGTAACA	TCGA-MH-A55W-01A-11D-A26P-10	26384730	118984691	16021825	46	44849											
CCDC15	80071	hgsc.bcm.edu	37	11	124847425	124847425	+	Missense_Mutation	SNP	G	G	C			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr11:124847425G>C	ENST00000344762.5	+	6	941	c.682G>C	c.(682-684)Gga>Cga	p.G228R	CCDC15_ENST00000529051.1_Missense_Mutation_p.G228R	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	228						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)		AGGAATAAGAGGAGAGTTGCC	0.378																																																0													67	65	66					11																	124847425		1828	4076	5904	SO:0001583	missense	80071			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.682G>C	chr11.hg19:g.124847425G>C	ENSP00000341684:p.Gly228Arg		Q9H8U7	Missense_Mutation	SNP	ENST00000344762.5	hg19	CCDS44756.1	.	.	.	.	.	.	.	.	.	.	G	2.444	-0.327892	0.05314	.	.	ENSG00000149548	ENST00000529051;ENST00000344762	T;T	0.31510	1.49;1.57	3.57	0.63	0.17693	.	.	.	.	.	T	0.20455	0.0492	L	0.31926	0.97	0.09310	N	1	B	0.12013	0.005	B	0.10450	0.005	T	0.22591	-1.0212	9	0.46703	T	0.11	-1.5802	5.3366	0.15961	0.3864:0.0:0.6136:0.0	.	228	Q0P6D6	CCD15_HUMAN	R	228	ENSP00000435403:G228R;ENSP00000341684:G228R	ENSP00000341684:G228R	G	+	1	0	CCDC15	124352635	0.000000	0.05858	0.006000	0.13384	0.005000	0.04900	0.169000	0.16641	0.314000	0.23086	-0.363000	0.07495	GGA		0.378	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387131.1	NM_025004		C	124847425	G	C	124847425	3	2	761	1	0	0	0	0	1	0	0	0	2786	1001	35	4	700	4	CCDC15	11	124847425	Missense_Mutation	SNP	G	TCGA-MH-A55W-01A-11D-A26P-10	5862734	124847425	10159091	47	44850											
STT3A	3703	hgsc.bcm.edu	37	11	125478106	125478106	+	Missense_Mutation	SNP	T	T	G			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr11:125478106T>G	ENST00000529196.1	+	10	1089	c.883T>G	c.(883-885)Ttt>Gtt	p.F295V	STT3A_ENST00000392708.4_Missense_Mutation_p.F295V|STT3A_ENST00000531491.1_Missense_Mutation_p.F203V			P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	295					cellular protein metabolic process (GO:0044267)|co-translational protein modification (GO:0043686)|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)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|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;0.0996)		TCCACAACAATTTGAAGTTCT	0.507																																																0													145	136	139					11																	125478106		2201	4299	6500	SO:0001583	missense	3703			BC020965	CCDS8458.1, CCDS60998.1	11q23.3	2013-03-06	2013-03-06	2006-02-07	ENSG00000134910	ENSG00000134910	2.4.99.18		6172	protein-coding gene	gene with protein product	"dolichyl-diphosphooligosaccharide protein glycotransferase"	601134	"integral membrane protein 1", "STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae)", "STT3A, cataylic subunit of the oligosaccharyltransferase complex"	ITM1		8941377, 8634329, 10234787	Standard	NM_152713		Approved	TMC, MGC9042, STT3-A	uc001qcd.2	P46977	OTTHUMG00000165852	ENST00000529196.1:c.883T>G	chr11.hg19:g.125478106T>G	ENSP00000436962:p.Phe295Val		B4DJ24|E9PNQ1|Q86XU9|Q8TE35|Q8WUB4	Missense_Mutation	SNP	ENST00000529196.1	hg19	CCDS8458.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	34|34	5.361297|5.361297	0.95877|0.95877	.|.	.|.	ENSG00000134910|ENSG00000134910	ENST00000392708;ENST00000529196;ENST00000531491|ENST00000526726	.|.	.|.	.|.	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84561|0.84561	0.5499|0.5499	M|M	0.91818|0.91818	3.245|3.245	0.80722|0.80722	D|D	1|1	P;P;D|.	0.53151|.	0.923;0.925;0.958|.	P;P;P|.	0.59012|.	0.622;0.85;0.85|.	D|D	0.88159|0.88159	0.2856|0.2856	9|5	0.66056|.	D|.	0.02|.	-19.0074|-19.0074	15.5287|15.5287	0.75932|0.75932	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	203;203;295|.	B4DJ24;E9PNQ1;P46977|.	.;.;STT3A_HUMAN|.	V|K	295;295;203|52	.|.	ENSP00000376472:F295V|.	F|N	+|+	1|3	0|2	STT3A|STT3A	124983316|124983316	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.990000|0.990000	0.78478|0.78478	8.040000|8.040000	0.89188|0.89188	2.148000|2.148000	0.66965|0.66965	0.533000|0.533000	0.62120|0.62120	TTT|AAT		0.507	STT3A-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386691.1	NM_152713		G	125478106	T	G	125478106	3	3	761	1	0	0	0	0	1	0	0	0	15338	1493	52	5	913	5	STT3A	11	125478106	Missense_Mutation	SNP	T	TCGA-MH-A55W-01A-11D-A26P-10	630681	125478106	9528410	48	44851											
IQSEC3	440073	hgsc.bcm.edu	37	12	275007	275007	+	Silent	SNP	G	G	A			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr12:275007G>A	ENST00000538872.1	+	11	3040	c.2922G>A	c.(2920-2922)ctG>ctA	p.L974L	RP11-598F7.6_ENST00000537295.1_lincRNA|RP11-598F7.5_ENST00000540136.1_RNA|IQSEC3_ENST00000382841.2_Silent_p.L671L|IQSEC3_ENST00000326261.4_Silent_p.L974L			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	974	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)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		TGGAGGACCTGAAGGAGTCCA	0.602																																																0													80	76	77					12																	275007		2203	4300	6503	SO:0001819	synonymous_variant	440073			AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.2922G>A	chr12.hg19:g.275007G>A			A6NIF2|A6NKV9|Q8TB43	Silent	SNP	ENST00000538872.1	hg19	CCDS53728.1																																																																																				0.602	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3	XM_495902		A	275007	G	A	275007	2	1	761	1	0	0	0	0	0	0	0	1	7821	1277	45	2		2	IQSEC3	12	275007	Silent	SNP	G	TCGA-MH-A55W-01A-11D-A26P-10		275007	133576888	49	44852											
SFRS2IP	9169	hgsc.bcm.edu	37	12	46342224	46342224	+	Missense_Mutation	SNP	T	T	C			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr12:46342224T>C	ENST00000369367.3	-	5	627	c.394A>G	c.(394-396)Ata>Gta	p.I132V	SCAF11_ENST00000419565.2_Missense_Mutation_p.I132V	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	132					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						ACTAACCTTATACAGCTTTTA	0.308																																																0													116	104	108					12																	46342224		1804	4076	5880	SO:0001583	missense	9169			Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"RING-type (C3HC4) zinc fingers"	10784	protein-coding gene	gene with protein product		603668	"splicing factor, arginine/serine-rich 2, interacting protein", "serine/arginine-rich splicing factor 2, interacting protein"	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.394A>G	chr12.hg19:g.46342224T>C	ENSP00000358374:p.Ile132Val		A6NEU9|A6NLW5|Q8IW59	Missense_Mutation	SNP	ENST00000369367.3	hg19	CCDS8748.2	.	.	.	.	.	.	.	.	.	.	T	0.096	-1.159474	0.01686	.	.	ENSG00000139218	ENST00000369367;ENST00000419565;ENST00000547018	T;T;T	0.40756	1.02;1.02;1.02	5.76	2.03	0.26663	.	2.058940	0.02882	U	0.132917	T	0.21103	0.0508	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21895	-1.0232	10	0.10377	T	0.69	.	7.6398	0.28288	0.0:0.2476:0.0:0.7524	.	132	Q99590	SCAFB_HUMAN	V	132;132;72	ENSP00000358374:I132V;ENSP00000413036:I132V;ENSP00000446746:I72V	ENSP00000358374:I132V	I	-	1	0	SCAF11	44628491	0.005000	0.15991	0.024000	0.17045	0.748000	0.42578	-0.080000	0.11339	0.095000	0.17434	0.460000	0.39030	ATA		0.308	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		C	46342224	T	C	46342224	3	2	761	1	0	0	0	0	1	0	0	0	14183	1406	49	3	4041	3	SFRS2IP	12	46342224	Missense_Mutation	SNP	T	TCGA-MH-A55W-01A-11D-A26P-10	46067217	46342224	87509671	50	44853											
MTERFD3	80298	hgsc.bcm.edu	37	12	107371368	107371368	+	Missense_Mutation	SNP	A	A	C			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr12:107371368A>C	ENST00000552029.1	-	2	3193	c.1125T>G	c.(1123-1125)ttT>ttG	p.F375L	C12orf23_ENST00000551237.1_Intron|MTERFD3_ENST00000240050.4_Missense_Mutation_p.F375L|MTERFD3_ENST00000392830.2_Missense_Mutation_p.F375L			Q49AM1	MTEF2_HUMAN		375					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)	transcription regulatory region DNA binding (GO:0044212)			breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						CCACAGGGTTAAATAATGGCC	0.353																																																0													114	112	113					12																	107371368		2202	4300	6502	SO:0001583	missense	80298																														ENST00000552029.1:c.1125T>G	chr12.hg19:g.107371368A>C	ENSP00000447651:p.Phe375Leu		Q53HM2|Q9H4L6|Q9H7Y9	Missense_Mutation	SNP	ENST00000552029.1	hg19	CCDS9111.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.167376	0.78339	.	.	ENSG00000120832	ENST00000392830;ENST00000240050;ENST00000552029	T;T;T	0.26373	1.74;1.74;1.74	5.95	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.33614	0.0869	M	0.63843	1.955	0.58432	D	0.999997	P	0.48503	0.911	P	0.49387	0.609	T	0.11867	-1.0570	10	0.87932	D	0	7.5321	8.7341	0.34516	0.859:0.0:0.141:0.0	.	375	Q49AM1	MTER3_HUMAN	L	375	ENSP00000376575:F375L;ENSP00000240050:F375L;ENSP00000447651:F375L	ENSP00000240050:F375L	F	-	3	2	MTERFD3	105895498	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	5.017000	0.64047	2.272000	0.75746	0.460000	0.39030	TTT		0.353	MTERFD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406835.1			C	107371368	A	C	107371368	3	2	761	1	0	0	0	0	1	0	0	0	9923	359	13	5	36	5	MTERFD3	12	107371368	Missense_Mutation	SNP	A	TCGA-MH-A55W-01A-11D-A26P-10	61029144	107371368	26480527	51	44854											
MMP17	4326	hgsc.bcm.edu	37	12	132334421	132334421	+	Missense_Mutation	SNP	C	C	T			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr12:132334421C>T	ENST00000360564.1	+	9	1381	c.1279C>T	c.(1279-1281)Ccg>Tcg	p.P427S	MMP17_ENST00000535004.1_Intron|MMP17_ENST00000535291.1_Missense_Mutation_p.P343S	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	427					positive regulation of catalytic activity (GO:0043085)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)	Marimastat(DB00786)	CTTCAGCCTCCCGCCTGGCGG	0.587																																																0													105	109	108					12																	132334421		2203	4300	6503	SO:0001583	missense	4326			X89576	CCDS31927.1	12q24.3	2005-08-08	2005-08-08		ENSG00000198598	ENSG00000198598			7163	protein-coding gene	gene with protein product		602285	"matrix metalloproteinase 17 (membrane-inserted)"			9878265	Standard	NM_016155		Approved	MT4-MMP	uc001ujc.1	Q9ULZ9	OTTHUMG00000168050	ENST00000360564.1:c.1279C>T	chr12.hg19:g.132334421C>T	ENSP00000353767:p.Pro427Ser		Q14850	Missense_Mutation	SNP	ENST00000360564.1	hg19	CCDS31927.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.629492	0.87660	.	.	ENSG00000198598	ENST00000360564;ENST00000535291;ENST00000534865;ENST00000542648	T;T;T;T	0.04603	3.59;3.59;3.59;3.59	4.48	4.48	0.54585	Hemopexin/matrixin (2);	0.064020	0.64402	D	0.000006	T	0.23492	0.0568	M	0.83483	2.645	0.80722	D	1	D	0.65815	0.995	D	0.68039	0.955	T	0.04509	-1.0946	10	0.72032	D	0.01	.	17.1756	0.86841	0.0:1.0:0.0:0.0	.	427	Q9ULZ9	MMP17_HUMAN	S	427;343;268;57	ENSP00000353767:P427S;ENSP00000441106:P343S;ENSP00000442104:P268S;ENSP00000439542:P57S	ENSP00000353767:P427S	P	+	1	0	MMP17	130900374	1.000000	0.71417	0.995000	0.50966	0.701000	0.40568	7.727000	0.84838	2.054000	0.61138	0.471000	0.43371	CCG		0.587	MMP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397757.1	NM_016155		T	132334421	C	T	132334421	3	4	761	1	0	0	0	0	1	0	0	0	9658	623	22	2	1313	2	MMP17	12	132334421	Missense_Mutation	SNP	C	TCGA-MH-A55W-01A-11D-A26P-10	24963053	132334421	1517474	52	44855											
STK24	8428	hgsc.bcm.edu	37	13	99127511	99127511	+	Missense_Mutation	SNP	G	G	T			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr13:99127511G>T	ENST00000376547.3	-	4	613	c.468C>A	c.(466-468)gaC>gaA	p.D156E	STK24_ENST00000397517.2_Missense_Mutation_p.D144E|STK24_ENST00000539966.1_Missense_Mutation_p.D125E	NM_003576.3	NP_003567.2	Q9Y6E0	STK24_HUMAN	serine/threonine kinase 24	156	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of cell migration (GO:0030336)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of axon regeneration (GO:0048679)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TACCTTTAATGTCTCTGTGGA	0.443																																																0													108	99	102					13																	99127511		2203	4300	6503	SO:0001583	missense	8428			AF024636	CCDS9488.1, CCDS32001.1, CCDS66573.1	13q31.2-q32.3	2010-06-25	2010-06-25		ENSG00000102572	ENSG00000102572			11403	protein-coding gene	gene with protein product	"STE20-like kinase 3", "sterile 20-like kinase 3"	604984	"serine/threonine kinase 24 (Ste20, yeast homolog)"			9353338, 10644707	Standard	NM_003576		Approved	MST-3, MST3, MST3B, STK3, STE20	uc001vnn.1	Q9Y6E0	OTTHUMG00000017250	ENST00000376547.3:c.468C>A	chr13.hg19:g.99127511G>T	ENSP00000365730:p.Asp156Glu		O14840|Q5JV92	Missense_Mutation	SNP	ENST00000376547.3	hg19	CCDS9488.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.3|20.3	3.964958|3.964958	0.74131|0.74131	.|.	.|.	ENSG00000102572|ENSG00000102572	ENST00000397517;ENST00000376547;ENST00000539966;ENST00000376533;ENST00000543110|ENST00000444574	D;D;D|.	0.92911|.	-3.13;-3.13;-3.13|.	4.93|4.93	-3.84|-3.84	0.04256|0.04256	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|.	0.000020|.	D|D	0.84361|0.84361	0.5455|0.5455	H|H	0.97340|0.97340	3.985|3.985	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.999;0.999;0.999|.	D|D	0.85372|0.85372	0.1114|0.1114	10|5	0.87932|.	D|.	0|.	.|.	11.1814|11.1814	0.48631|0.48631	0.5388:0.0:0.4612:0.0|0.5388:0.0:0.4612:0.0	.|.	125;144;156|.	B4DR80;Q5U0E6;Q9Y6E0|.	.;.;STK24_HUMAN|.	E|N	144;156;125;132;144|62	ENSP00000380651:D144E;ENSP00000365730:D156E;ENSP00000442539:D125E|.	ENSP00000365716:D132E|.	D|H	-|-	3|1	2|0	STK24|STK24	97925512|97925512	0.972000|0.972000	0.33761|0.33761	0.957000|0.957000	0.39632|0.39632	0.955000|0.955000	0.61496|0.61496	0.333000|0.333000	0.19768|0.19768	-0.885000|-0.885000	0.03971|0.03971	-0.390000|-0.390000	0.06520|0.06520	GAC|CAT		0.443	STK24-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045549.2	NM_003576		T	99127511	G	T	99127511	3	4	761	1	0	0	0	0	1	0	0	0	15298	1368	48	4	895	4	STK24	13	99127511	Missense_Mutation	SNP	G	TCGA-MH-A55W-01A-11D-A26P-10		99127511	16042367	53	44856											
CIDEB	27141	hgsc.bcm.edu	37	14	24775587	24775587	+	Missense_Mutation	SNP	G	G	C			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr14:24775587G>C	ENST00000336557.5	-	6	1631	c.329C>G	c.(328-330)cCt>cGt	p.P110R	CIDEB_ENST00000554411.1_Missense_Mutation_p.P110R|CIDEB_ENST00000258807.5_Missense_Mutation_p.P110R|NOP9_ENST00000267425.3_3'UTR|LTB4R2_ENST00000528054.1_5'Flank			Q9UHD4	CIDEB_HUMAN	cell death-inducing DFFA-like effector b	110	CIDE-N. {ECO:0000255|PROSITE- ProRule:PRU00447}.				apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|regulation of apoptotic process (GO:0042981)	cytosol (GO:0005829)|lipid particle (GO:0005811)	identical protein binding (GO:0042802)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0181)		TACCCTTGTAGGGCTCCAGCT	0.562																																																0													140	111	121					14																	24775587		2203	4300	6503	SO:0001583	missense	27141			AF190901	CCDS32056.1	14q12	2012-09-20			ENSG00000136305	ENSG00000136305			1977	protein-coding gene	gene with protein product		604441				10619428, 10837461	Standard	XM_005267540		Approved		uc001woo.3	Q9UHD4	OTTHUMG00000171555	ENST00000336557.5:c.329C>G	chr14.hg19:g.24775587G>C	ENSP00000337731:p.Pro110Arg		D3DS73|Q546V8|Q9NNW9	Missense_Mutation	SNP	ENST00000336557.5	hg19	CCDS32056.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.541298	0.45280	.	.	ENSG00000136305	ENST00000554411;ENST00000336557;ENST00000258807;ENST00000541830	T;T;T	0.48522	0.81;0.81;0.81	4.43	4.43	0.53597	Caspase-activated nuclease CIDE-N (2);	0.163888	0.56097	D	0.000036	T	0.67468	0.2896	M	0.87827	2.91	0.80722	D	1	P	0.37038	0.579	P	0.53224	0.721	T	0.72371	-0.4314	10	0.72032	D	0.01	-12.5195	11.7635	0.51918	0.0:0.0:0.8233:0.1767	.	110	Q9UHD4	CIDEB_HUMAN	R	110	ENSP00000451089:P110R;ENSP00000337731:P110R;ENSP00000258807:P110R	ENSP00000258807:P110R	P	-	2	0	CIDEB	23845427	0.995000	0.38212	0.513000	0.27749	0.217000	0.24651	2.732000	0.47352	2.307000	0.77673	0.561000	0.74099	CCT		0.562	CIDEB-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414120.1			C	24775587	G	C	24775587	3	2	761	1	0	0	0	0	1	0	0	0	3428	1000	35	4	342	4	CIDEB	14	24775587	Missense_Mutation	SNP	G	TCGA-MH-A55W-01A-11D-A26P-10		24775587	82573953	54	44857											
ACTR10	55860	hgsc.bcm.edu	37	14	58680398	58680398	+	Missense_Mutation	SNP	G	G	C			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr14:58680398G>C	ENST00000254286.4	+	6	580	c.500G>C	c.(499-501)gGa>gCa	p.G167A		NM_018477.2	NP_060947.1	Q9NZ32	ARP10_HUMAN	actin-related protein 10 homolog (S. cerevisiae)	167					microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|dynactin complex (GO:0005869)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						CTACCCCTAGGAGGAAAAGCT	0.363																																																0													68	66	67					14																	58680398		2203	4300	6503	SO:0001583	missense	55860			AF220190	CCDS32090.1	14q23.1	2014-08-08			ENSG00000131966	ENSG00000131966			17372	protein-coding gene	gene with protein product						12857853	Standard	NM_018477		Approved	HARP11, ACTR11, Arp11	uc001xdf.3	Q9NZ32	OTTHUMG00000171049	ENST00000254286.4:c.500G>C	chr14.hg19:g.58680398G>C	ENSP00000254286:p.Gly167Ala		Q9H9Y5|Q9NWY2	Missense_Mutation	SNP	ENST00000254286.4	hg19	CCDS32090.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.201439	0.58234	.	.	ENSG00000131966	ENST00000543474;ENST00000254286	D	0.94497	-3.44	5.8	5.8	0.92144	.	0.101891	0.64402	D	0.000002	D	0.88066	0.6337	N	0.13003	0.285	0.80722	D	1	B	0.27166	0.17	B	0.30716	0.119	D	0.83755	0.0211	10	0.02654	T	1	-16.7897	17.2104	0.86929	0.0:0.0:1.0:0.0	.	167	Q9NZ32	ARP10_HUMAN	A	167	ENSP00000254286:G167A	ENSP00000254286:G167A	G	+	2	0	ACTR10	57750151	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.523000	0.81856	2.748000	0.94277	0.655000	0.94253	GGA		0.363	ACTR10-002	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411405.1			C	58680398	G	C	58680398	3	2	761	1	0	0	0	0	1	0	0	0	208	1174	41	4	522	4	ACTR10	14	58680398	Missense_Mutation	SNP	G	TCGA-MH-A55W-01A-11D-A26P-10	33904811	58680398	48669142	55	44858											
SPTLC2	9517	hgsc.bcm.edu	37	14	78036838	78036838	+	Missense_Mutation	SNP	C	C	A			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr14:78036838C>A	ENST00000216484.2	-	5	838	c.645G>T	c.(643-645)aaG>aaT	p.K215N		NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2	215					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)	GTTCTTCATGCTTGTCCAGGT	0.368																																																0													128	115	119					14																	78036838		2203	4300	6503	SO:0001583	missense	9517			AB011098	CCDS9865.1	14q24.3	2014-09-17			ENSG00000100596	ENSG00000100596	2.3.1.50		11278	protein-coding gene	gene with protein product		605713				8921873, 9363775	Standard	NM_004863		Approved	KIAA0526, LCB2, LCB2A, hLCB2a	uc001xub.3	O15270		ENST00000216484.2:c.645G>T	chr14.hg19:g.78036838C>A	ENSP00000216484:p.Lys215Asn		Q16685	Missense_Mutation	SNP	ENST00000216484.2	hg19	CCDS9865.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.04|12.04	1.817411|1.817411	0.32145|0.32145	.|.	.|.	ENSG00000100596|ENSG00000100596	ENST00000554901|ENST00000216484	.|D	.|0.90444	.|-2.67	5.49|5.49	1.55|1.55	0.23275|0.23275	.|Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	.|0.169622	.|0.56097	.|D	.|0.000039	D|D	0.82559|0.82559	0.5063|0.5063	L|L	0.27053|0.27053	0.805|0.805	0.54753|0.54753	D|D	0.999983|0.999983	.|B	.|0.17038	.|0.02	.|B	.|0.20577	.|0.03	T|T	0.71119|0.71119	-0.4685|-0.4685	5|10	.|0.34782	.|T	.|0.22	-25.2504|-25.2504	10.0683|10.0683	0.42317|0.42317	0.0:0.4966:0.0:0.5034|0.0:0.4966:0.0:0.5034	.|.	.|215	.|O15270	.|SPTC2_HUMAN	S|N	152|215	.|ENSP00000216484:K215N	.|ENSP00000216484:K215N	A|K	-|-	1|3	0|2	SPTLC2|SPTLC2	77106591|77106591	0.942000|0.942000	0.31987|0.31987	0.999000|0.999000	0.59377|0.59377	0.996000|0.996000	0.88848|0.88848	0.022000|0.022000	0.13511|0.13511	0.071000|0.071000	0.16664|0.16664	-0.137000|-0.137000	0.14449|0.14449	GCA|AAG		0.368	SPTLC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414030.1	NM_004863		A	78036838	C	A	78036838	3	1	761	1	0	0	0	0	1	0	0	0	15129	796	28	4	1075	4	SPTLC2	14	78036838	Missense_Mutation	SNP	C	TCGA-MH-A55W-01A-11D-A26P-10	19356440	78036838	29312702	56	44859											
C14orf159	80017	hgsc.bcm.edu	37	14	91681816	91681816	+	Silent	SNP	C	C	T			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr14:91681816C>T	ENST00000523771.1	+	13	2220	c.1617C>T	c.(1615-1617)caC>caT	p.H539H	C14orf159_ENST00000523816.1_Silent_p.H539H|C14orf159_ENST00000412671.2_Silent_p.H544H|C14orf159_ENST00000525393.2_Silent_p.H415H|C14orf159_ENST00000520328.1_Silent_p.H487H|C14orf159_ENST00000256324.10_Silent_p.H544H|C14orf159_ENST00000518868.1_Silent_p.H544H|C14orf159_ENST00000521077.2_Silent_p.H504H|C14orf159_ENST00000428926.2_Silent_p.H539H|C14orf159_ENST00000522322.1_Silent_p.H539H			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	539						mitochondrion (GO:0005739)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		GTGCTGTCCACAGTCAGTACC	0.552																																																0													117	103	108					14																	91681816		2203	4300	6503	SO:0001819	synonymous_variant	80017			AK097294	CCDS32141.1, CCDS41979.1, CCDS45150.1, CCDS66693.1, CCDS73677.1	14q32.11	2012-09-26			ENSG00000133943	ENSG00000133943			20498	protein-coding gene	gene with protein product							Standard	NM_001102367		Approved	FLJ39975	uc001xze.2	Q7Z3D6	OTTHUMG00000164980	ENST00000523771.1:c.1617C>T	chr14.hg19:g.91681816C>T			B3KUI7|Q86SW3|Q86SX8|Q86SX9|Q86T08|Q86TV5|Q96GW5|Q9H7G0|Q9H8Y9|Q9H9W6	Silent	SNP	ENST00000523771.1	hg19	CCDS32141.1	.	.	.	.	.	.	.	.	.	.	C	3.836	-0.034789	0.07543	.	.	ENSG00000133943	ENST00000522816	.	.	.	5.34	-3.48	0.04739	.	.	.	.	.	T	0.28466	0.0704	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	T	0.34900	-0.9810	4	.	.	.	.	7.4016	0.26967	0.0:0.1871:0.1388:0.6741	.	.	.	.	I	140	.	.	T	+	2	0	C14orf159	90751569	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.541000	0.06099	-0.508000	0.06540	-0.175000	0.13238	ACA		0.552	C14orf159-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381273.1	NM_024952		T	91681816	C	T	91681816	2	4	761	1	0	0	0	0	0	0	0	1	1757	477	17	2		2	C14orf159	14	91681816	Silent	SNP	C	TCGA-MH-A55W-01A-11D-A26P-10	13644978	91681816	15667724	57	44860											
MARK3	4140	hgsc.bcm.edu	37	14	103969341	103969341	+	Frame_Shift_Del	DEL	G	G	-			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr14:103969341delG	ENST00000429436.2	+	18	2549	c.2039delG	c.(2038-2040)cgcfs	p.R680fs	MARK3_ENST00000416682.2_Frame_Shift_Del_p.R679fs|MARK3_ENST00000216288.7_Frame_Shift_Del_p.R640fs|MARK3_ENST00000440884.3_Frame_Shift_Del_p.R586fs|MARK3_ENST00000553942.1_Frame_Shift_Del_p.R671fs|MARK3_ENST00000303622.9_Frame_Shift_Del_p.R656fs|MARK3_ENST00000335102.5_Frame_Shift_Del_p.R703fs|MARK3_ENST00000561071.1_3'UTR	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	680						plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.I639_K641del(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			CGGGAAATCCGCAAAGTGTTG	0.532																																																2	Deletion - In frame(2)	central_nervous_system(2)											69	71	71					14																	103969341		2055	4220	6275	SO:0001589	frameshift_variant	4140			M80359	CCDS41993.1, CCDS45165.1, CCDS45166.1, CCDS45167.1, CCDS55947.1	14q32.32	2014-04-07			ENSG00000075413	ENSG00000075413			6897	protein-coding gene	gene with protein product		602678				9533022	Standard	NM_002376		Approved	CTAK1, KP78, PAR-1A	uc001ymz.4	P27448	OTTHUMG00000171789	ENST00000429436.2:c.2039delG	chr14.hg19:g.103969341delG	ENSP00000411397:p.Arg680fs		O60219|Q86TT8|Q8TB41|Q8WX83|Q96RG1|Q9UMY9|Q9UN34	Frame_Shift_Del	DEL	ENST00000429436.2	hg19	CCDS45165.1																																																																																				0.532	MARK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415144.1	NM_001128918		-	103969341	G	-	103969341	7	5	761	1	0	1	0	1	0	0	0	0	9316	1087	38	0	2109	0	MARK3	14	103969341	Frame_Shift_Del	DEL	G	TCGA-MH-A55W-01A-11D-A26P-10	12287525	103969341	3380199	58	44861											
FAM63B	54629	hgsc.bcm.edu	37	15	59139573	59139573	+	Silent	SNP	A	A	T			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr15:59139573A>T	ENST00000559228.1	+	7	1528	c.1446A>T	c.(1444-1446)gtA>gtT	p.V482V	FAM63B_ENST00000450403.2_Silent_p.V482V			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	482										central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						TACACAACGTAGATGGTGATG	0.388																																																0													143	132	135					15																	59139573		1828	4082	5910	SO:0001819	synonymous_variant	54629			AK075319	CCDS42046.1, CCDS45268.1	15q21.3	2005-08-09							26954	protein-coding gene	gene with protein product						10574461	Standard	NM_001040450		Approved	KIAA1164	uc002afj.3	Q8NBR6		ENST00000559228.1:c.1446A>T	chr15.hg19:g.59139573A>T			B2RTT8|Q9ULQ6	Silent	SNP	ENST00000559228.1	hg19	CCDS42046.1																																																																																				0.388	FAM63B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416230.1	NM_019092		T	59139573	A	T	59139573	2	4	761	1	0	0	0	0	0	0	0	1	5599	407	15	5		5	FAM63B	15	59139573	Silent	SNP	A	TCGA-MH-A55W-01A-11D-A26P-10		59139573	43391819	59	44862											
ACAN	176	hgsc.bcm.edu	37	15	89400337	89400337	+	Missense_Mutation	SNP	T	T	A			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr15:89400337T>A	ENST00000561243.1	+	11	4521	c.4521T>A	c.(4519-4521)agT>agA	p.S1507R	ACAN_ENST00000352105.7_Missense_Mutation_p.S1507R|ACAN_ENST00000439576.2_Missense_Mutation_p.S1507R|ACAN_ENST00000559004.1_Missense_Mutation_p.S1507R			P16112	PGCA_HUMAN	aggrecan	1508	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)			AGGATGTCAGTGAACTTCCTT	0.493																																																0													69	70	70					15																	89400337		1870	4099	5969	SO:0001583	missense	176			M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	319	protein-coding gene	gene with protein product	"aggrecan proteoglycan"	155760	"chondroitin sulfate proteoglycan 1", "aggrecan 1"	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.4521T>A	chr15.hg19:g.89400337T>A	ENSP00000453342:p.Ser1507Arg		Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	hg19	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	T	14.33	2.503317	0.44558	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	D;D	0.97016	-4.21;-4.21	3.27	0.774	0.18521	.	.	.	.	.	D	0.97309	0.9120	M	0.79926	2.475	0.09310	N	1	D;D	0.76494	0.999;0.998	D;D	0.72982	0.979;0.953	D	0.91248	0.5027	9	0.56958	D	0.05	.	6.8295	0.23902	0.0:0.3522:0.0:0.6478	.	1507;1507	E7ENV9;E7EX88	.;.	R	1507;1507;1393	ENSP00000387356:S1507R;ENSP00000341615:S1507R	ENSP00000268134:S1393R	S	+	3	2	ACAN	87201341	0.000000	0.05858	0.002000	0.10522	0.944000	0.59088	-0.304000	0.08199	0.050000	0.15949	0.260000	0.18958	AGT		0.493	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		A	89400337	T	A	89400337	3	1	761	1	0	0	0	0	1	0	0	0	117	1693	59	5	4563	5	ACAN	15	89400337	Missense_Mutation	SNP	T	TCGA-MH-A55W-01A-11D-A26P-10	30260764	89400337	13131055	60	44863											
RBBP6	5930	hgsc.bcm.edu	37	16	24581079	24581079	+	Missense_Mutation	SNP	A	A	T			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr16:24581079A>T	ENST00000319715.4	+	17	3500	c.3068A>T	c.(3067-3069)aAt>aTt	p.N1023I	RBBP6_ENST00000348022.2_Missense_Mutation_p.N989I|RBBP6_ENST00000381039.3_Intron	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1023	Interaction with RB1. {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)		AAACGGAAGAATGATGGATCT	0.383																																																0													89	93	92					16																	24581079		2197	4300	6497	SO:0001583	missense	5930				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.3068A>T	chr16.hg19:g.24581079A>T	ENSP00000317872:p.Asn1023Ile		Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	ENST00000319715.4	hg19	CCDS10621.1	.	.	.	.	.	.	.	.	.	.	A	14.65	2.597918	0.46318	.	.	ENSG00000122257	ENST00000319715;ENST00000348022	T;T	0.14516	2.5;2.5	5.66	1.57	0.23409	.	0.405156	0.23413	N	0.048451	T	0.06280	0.0162	N	0.19112	0.55	0.23724	N	0.997013	B;B	0.22983	0.078;0.047	B;B	0.21151	0.033;0.014	T	0.31971	-0.9924	10	0.28530	T	0.3	-9.0723	1.0512	0.01580	0.2899:0.3403:0.1901:0.1797	.	989;1023	Q7Z6E9-2;Q7Z6E9	.;RBBP6_HUMAN	I	1023;989	ENSP00000317872:N1023I;ENSP00000316291:N989I	ENSP00000317872:N1023I	N	+	2	0	RBBP6	24488580	0.343000	0.24818	0.990000	0.47175	0.994000	0.84299	0.309000	0.19332	-0.006000	0.14370	0.533000	0.62120	AAT		0.383	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		T	24581079	A	T	24581079	3	4	761	1	0	0	0	0	1	0	0	0	13109	101	4	5	3188	5	RBBP6	16	24581079	Missense_Mutation	SNP	A	TCGA-MH-A55W-01A-11D-A26P-10		24581079	65773674	61	44864											
ARHGEF15	22899	hgsc.bcm.edu	37	17	8215790	8215790	+	Missense_Mutation	SNP	T	T	G			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr17:8215790T>G	ENST00000361926.3	+	2	543	c.433T>G	c.(433-435)Tca>Gca	p.S145A	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.S145A	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	145					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						TGGCTCTGCCTCAGCTCCTGG	0.672																																																0													54	54	54					17																	8215790		2203	4300	6503	SO:0001583	missense	22899			AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"Rho guanine nucleotide exchange factors"	15590	protein-coding gene	gene with protein product	"Rho guanine exchange factor (GEF) 15"	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.433T>G	chr17.hg19:g.8215790T>G	ENSP00000355026:p.Ser145Ala		A8K6G1|Q8N449|Q9H8B4	Missense_Mutation	SNP	ENST00000361926.3	hg19	CCDS11139.1	.	.	.	.	.	.	.	.	.	.	T	11.22	1.574696	0.28092	.	.	ENSG00000198844	ENST00000361926;ENST00000455564;ENST00000421050	T;T	0.74632	-0.86;-0.86	5.12	4.03	0.46877	.	1.787260	0.03046	N	0.153884	T	0.79569	0.4468	L	0.29908	0.895	0.24301	N	0.99513	D;D;P	0.58268	0.982;0.982;0.884	D;D;B	0.67548	0.952;0.952;0.262	T	0.62053	-0.6935	10	0.45353	T	0.12	-10.5299	7.7269	0.28765	0.0:0.0947:0.0:0.9053	.	145;145;46	D3DTR7;O94989;B4DTR5	.;ARHGF_HUMAN;.	A	145;46;145	ENSP00000355026:S145A;ENSP00000412505:S145A	ENSP00000355026:S145A	S	+	1	0	ARHGEF15	8156515	0.954000	0.32549	0.913000	0.36048	0.921000	0.55340	1.645000	0.37238	0.969000	0.38237	0.454000	0.30748	TCA		0.672	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	NM_173728		G	8215790	T	G	8215790	3	3	761	1	0	0	0	0	1	0	0	0	898	1551	54	5	435	5	ARHGEF15	17	8215790	Missense_Mutation	SNP	T	TCGA-MH-A55W-01A-11D-A26P-10		8215790	72979420	62	44865											
FBXO47	494188	hgsc.bcm.edu	37	17	37099134	37099134	+	Missense_Mutation	SNP	A	A	G			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr17:37099134A>G	ENST00000378079.2	-	9	1179	c.980T>C	c.(979-981)cTc>cCc	p.L327P		NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN	F-box protein 47	327										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						TAGCATTAGGAGACGTGCATT	0.403																																																0													98	91	93					17																	37099134		2203	4300	6503	SO:0001583	missense	494188				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.980T>C	chr17.hg19:g.37099134A>G	ENSP00000367319:p.Leu327Pro		B2RTZ4	Missense_Mutation	SNP	ENST00000378079.2	hg19	CCDS32639.1	.	.	.	.	.	.	.	.	.	.	A	17.39	3.378341	0.61735	.	.	ENSG00000204952	ENST00000378079	T	0.61158	0.13	5.9	4.8	0.61643	.	0.254055	0.40385	N	0.001113	T	0.71626	0.3362	M	0.66939	2.045	0.58432	D	0.999995	D	0.76494	0.999	D	0.67231	0.95	T	0.73902	-0.3836	10	0.87932	D	0	-13.2646	12.1337	0.53957	0.8566:0.1434:0.0:0.0	.	327	Q5MNV8	FBX47_HUMAN	P	327	ENSP00000367319:L327P	ENSP00000367319:L327P	L	-	2	0	FBXO47	34352660	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	7.161000	0.77505	1.013000	0.39391	0.482000	0.46254	CTC		0.403	FBXO47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444073.1	NM_001008777		G	37099134	A	G	37099134	3	3	761	1	0	0	0	0	1	0	0	0	5758	304	11	3	390	3	FBXO47	17	37099134	Missense_Mutation	SNP	A	TCGA-MH-A55W-01A-11D-A26P-10	28883344	37099134	44096076	63	44866											
AMZ2	51321	hgsc.bcm.edu	37	17	66246341	66246341	+	Missense_Mutation	SNP	C	C	T	rs532820909		TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr17:66246341C>T	ENST00000359904.3	+	2	1145	c.13C>T	c.(13-15)Cgg>Tgg	p.R5W	AMZ2_ENST00000577273.1_Missense_Mutation_p.R5W|RP11-147L13.2_ENST00000577698.1_RNA|AMZ2_ENST00000392720.2_Missense_Mutation_p.R5W|AMZ2_ENST00000359783.4_Missense_Mutation_p.R5W|AMZ2_ENST00000577866.1_Missense_Mutation_p.R5W|AMZ2_ENST00000577985.1_Missense_Mutation_p.R5W|AMZ2_ENST00000580753.1_Missense_Mutation_p.R5W|AMZ2_ENST00000585050.1_Intron	NM_016627.4	NP_057711.3	Q86W34	AMZ2_HUMAN	archaelysin family metallopeptidase 2	5							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)			GCAAATAATACGGCACTCCGA	0.343													C|||	1	0.000199681	0.0	0.0	5008	,	,		20400	0.0		0.0	False		,,,				2504	0.001															0													75	79	78					17																	66246341		2203	4300	6503	SO:0001583	missense	51321			CR609550	CCDS11674.1, CCDS32714.1	17q24.2	2010-04-08			ENSG00000196704	ENSG00000196704			28041	protein-coding gene	gene with protein product	"archaemetzincin-2"	615169				15972818	Standard	XM_005257436		Approved		uc002jgr.1	Q86W34		ENST00000359904.3:c.13C>T	chr17.hg19:g.66246341C>T	ENSP00000352976:p.Arg5Trp		A6NLD9|B3KR44|Q5XKF1|Q9NZE2	Missense_Mutation	SNP	ENST00000359904.3	hg19	CCDS11674.1	.	.	.	.	.	.	.	.	.	.	C	0.090	-1.168251	0.01660	.	.	ENSG00000196704	ENST00000359904;ENST00000359783;ENST00000392720	T;T;T	0.19938	2.11;2.11;2.11	3.71	1.58	0.23477	.	0.721746	0.11673	N	0.540610	T	0.21718	0.0523	L	0.57536	1.79	0.09310	N	1	D;D	0.61697	0.978;0.99	B;B	0.43623	0.425;0.425	T	0.14090	-1.0485	10	0.87932	D	0	-32.5953	7.065	0.25147	0.1861:0.451:0.3629:0.0	.	5;5	A6NLD9;Q86W34	.;AMZ2_HUMAN	W	5	ENSP00000352976:R5W;ENSP00000352831:R5W;ENSP00000376481:R5W	ENSP00000352831:R5W	R	+	1	2	AMZ2	63757936	0.001000	0.12720	0.000000	0.03702	0.006000	0.05464	0.302000	0.19192	0.320000	0.23234	0.456000	0.33151	CGG		0.343	AMZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448261.1	NM_016627		T	66246341	C	T	66246341	3	4	761	1	0	0	0	0	1	0	0	0	597	527	19	1	15	1	AMZ2	17	66246341	Missense_Mutation	SNP	C	TCGA-MH-A55W-01A-11D-A26P-10	29147207	66246341	14948869	64	44867											
C17orf70	80233	hgsc.bcm.edu	37	17	79518169	79518169	+	Silent	SNP	A	A	G			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr17:79518169A>G	ENST00000327787.8	-	3	397	c.351T>C	c.(349-351)ccT>ccC	p.P117P	C17orf70_ENST00000537152.1_5'UTR|C17orf70_ENST00000425898.2_5'Flank			Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	117					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)			CGGGGTCCACAGGGATCACGG	0.647																																																0													6	8	7					17																	79518169		1251	2219	3470	SO:0001819	synonymous_variant	80233			BC008883	CCDS32765.1, CCDS32765.2	17q25.3	2012-05-30			ENSG00000185504	ENSG00000185504			26171	protein-coding gene	gene with protein product	"Fanconi anemia-associated protein, 100kDa"	611301				17396147	Standard	NM_025161		Approved	FLJ22175, FAAP100	uc002kaq.3	Q0VG06	OTTHUMG00000167764	ENST00000327787.8:c.351T>C	chr17.hg19:g.79518169A>G			A6NNM1|Q8N3F7|Q9BV13|Q9H6K7|Q9H7E8	Silent	SNP	ENST00000327787.8	hg19	CCDS32765.2																																																																																				0.647	C17orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396170.1	NM_025161		G	79518169	A	G	79518169	2	3	761	1	0	0	0	0	0	0	0	1	1879	175	7	3		3	C17orf70	17	79518169	Silent	SNP	A	TCGA-MH-A55W-01A-11D-A26P-10	13271828	79518169	1677041	65	44868											
DLGAP1	9229	hgsc.bcm.edu	37	18	3508641	3508641	+	Missense_Mutation	SNP	G	G	A	rs538990113		TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr18:3508641G>A	ENST00000315677.3	-	11	3093	c.2498C>T	c.(2497-2499)aCc>aTc	p.T833I	DLGAP1_ENST00000581527.1_Missense_Mutation_p.T833I|DLGAP1_ENST00000515196.2_Missense_Mutation_p.T833I|DLGAP1_ENST00000584874.1_Missense_Mutation_p.T833I|DLGAP1_ENST00000534970.1_Missense_Mutation_p.T517I|DLGAP1_ENST00000539435.1_Missense_Mutation_p.T541I|DLGAP1_ENST00000400150.3_Missense_Mutation_p.T549I|DLGAP1_ENST00000400147.2_Missense_Mutation_p.T531I|DLGAP1_ENST00000400155.1_Missense_Mutation_p.T539I|DLGAP1_ENST00000400149.3_Missense_Mutation_p.T523I|DLGAP1_ENST00000581699.1_Missense_Mutation_p.T539I|DLGAP1_ENST00000400145.2_Missense_Mutation_p.T531I	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	833					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)				GCCCACTGCGGTTCGGATTTT	0.413																																																0													64	58	60					18																	3508641		2203	4300	6503	SO:0001583	missense	9229			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.2498C>T	chr18.hg19:g.3508641G>A	ENSP00000316377:p.Thr833Ile		A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Missense_Mutation	SNP	ENST00000315677.3	hg19	CCDS11836.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.008210	0.75046	.	.	ENSG00000170579	ENST00000315677;ENST00000400147;ENST00000400150;ENST00000400149;ENST00000400155;ENST00000534970;ENST00000539435;ENST00000400145;ENST00000515196	T;T;T;T;T;T;T;T;T	0.19250	2.16;2.16;2.16;2.16;2.16;2.16;2.16;2.16;2.16	5.66	4.74	0.60224	.	0.160479	0.56097	D	0.000030	T	0.24812	0.0602	L	0.48362	1.52	0.44908	D	0.997921	D;P;P;P;P;D;P;P	0.54397	0.966;0.939;0.758;0.662;0.758;0.958;0.758;0.714	P;P;P;B;P;B;P;B	0.47705	0.522;0.522;0.555;0.398;0.555;0.387;0.555;0.419	T	0.00885	-1.1527	10	0.87932	D	0	-22.5862	11.1457	0.48430	0.0:0.1378:0.7192:0.1429	.	833;517;529;539;541;531;833;531	B7Z9Y4;B7Z2H2;B7Z2J5;A8MWN8;B7Z2I2;O14490-3;O14490;O14490-2	.;.;.;.;.;.;DLGP1_HUMAN;.	I	833;531;549;523;539;517;541;531;833	ENSP00000316377:T833I;ENSP00000383011:T531I;ENSP00000383014:T549I;ENSP00000383013:T523I;ENSP00000383019:T539I;ENSP00000437817:T517I;ENSP00000446312:T541I;ENSP00000383010:T531I;ENSP00000445973:T833I	ENSP00000316377:T833I	T	-	2	0	DLGAP1	3498641	1.000000	0.71417	0.969000	0.41365	0.997000	0.91878	4.878000	0.63093	2.656000	0.90262	0.655000	0.94253	ACC		0.413	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4			A	3508641	G	A	3508641	3	1	761	1	0	0	0	0	1	0	0	0	4561	1261	44	2	447	2	DLGAP1	18	3508641	Missense_Mutation	SNP	G	TCGA-MH-A55W-01A-11D-A26P-10		3508641	74568607	66	44869											
DSG2	1829	hgsc.bcm.edu	37	18	29116286	29116286	+	Silent	SNP	T	T	C			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr18:29116286T>C	ENST00000261590.8	+	11	1754	c.1545T>C	c.(1543-1545)gtT>gtC	p.V515V		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	515			V -> I (in dbSNP:rs2230235).		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)			ATGTGAATGTTACTGCAGAGG	0.483																																																0													94	89	90					18																	29116286		1963	4174	6137	SO:0001819	synonymous_variant	1829			Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"Cadherins / Major cadherins"	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.1545T>C	chr18.hg19:g.29116286T>C			Q4KKU6	Silent	SNP	ENST00000261590.8	hg19	CCDS42423.1																																																																																				0.483	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	NM_001943		C	29116286	T	C	29116286	2	2	761	1	0	0	0	0	0	0	0	1	4779	1741	61	3		3	DSG2	18	29116286	Silent	SNP	T	TCGA-MH-A55W-01A-11D-A26P-10	25607645	29116286	48960962	67	44870											
RDH13	112724	hgsc.bcm.edu	37	19	55570627	55570627	+	Missense_Mutation	SNP	C	C	A			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr19:55570627C>A	ENST00000415061.3	-	2	225	c.82G>T	c.(82-84)Ggg>Tgg	p.G28W	RDH13_ENST00000396247.3_5'UTR	NM_001145971.1	NP_001139443.1	Q8NBN7	RDH13_HUMAN	retinol dehydrogenase 13 (all-trans/9-cis)	28					eye photoreceptor cell development (GO:0042462)|response to high light intensity (GO:0009644)|retina layer formation (GO:0010842)	mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.199)	GBM - Glioblastoma multiforme(193;0.0504)	Vitamin A(DB00162)	GGGCAAGCCCCACCGGTGACA	0.632																																																0													28	27	27					19																	55570627		1567	3580	5147	SO:0001583	missense	112724				CCDS42627.1, CCDS54320.1	19q13.42	2011-09-14	2006-05-09			ENSG00000160439	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	19978	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 7C, member 3"		"retinol dehydrogenase 13 (all-trans and 9-cis)"			12226107, 19027726	Standard	NM_138412		Approved	SDR7C3	uc002qio.3	Q8NBN7		ENST00000415061.3:c.82G>T	chr19.hg19:g.55570627C>A	ENSP00000391121:p.Gly28Trp		Q6UX79|Q96G88	Missense_Mutation	SNP	ENST00000415061.3	hg19	CCDS54320.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.395156	0.83011	.	.	ENSG00000160439	ENST00000415061;ENST00000291892	D;D	0.83673	-1.75;-1.63	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.88930	0.6571	L	0.56769	1.78	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.89139	0.3515	10	0.59425	D	0.04	.	14.7528	0.69540	0.0:1.0:0.0:0.0	.	28	Q8NBN7	RDH13_HUMAN	W	28	ENSP00000391121:G28W;ENSP00000291892:G28W	ENSP00000291892:G28W	G	-	1	0	RDH13	60262439	0.988000	0.35896	0.311000	0.25182	0.164000	0.22412	3.974000	0.56852	2.635000	0.89317	0.650000	0.86243	GGG		0.632	RDH13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451470.1	NM_138412		A	55570627	C	A	55570627	3	1	761	1	0	0	0	0	1	0	0	0	13198	594	21	4	937	4	RDH13	19	55570627	Missense_Mutation	SNP	C	TCGA-MH-A55W-01A-11D-A26P-10		55570627	3558356	68	44871											
SLC32A1	140679	hgsc.bcm.edu	37	20	37353586	37353607	+	Frame_Shift_Del	DEL	GGGCGCTGAAGCGCCCGTCGAG	GGGCGCTGAAGCGCCCGTCGAG	-	rs148951877		TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10	GGGCGCTGAAGCGCCCGTCGAG	GGGCGCTGAAGCGCCCGTCGAG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr20:37353586_37353607delGGGCGCTGAAGCGCCCGTCGAG	ENST00000217420.1	+	1	482_503	c.219_240delGGGCGCTGAAGCGCCCGTCGAG	c.(217-240)gagggcgctgaagcgcccgtcgagfs	p.EGAEAPVE73fs		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	73					aging (GO:0007568)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell tip (GO:0051286)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cone cell pedicle (GO:0044316)|dendrite (GO:0030425)|dendrite terminus (GO:0044292)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	gamma-aminobutyric acid:proton symporter activity (GO:0015495)|glycine transmembrane transporter activity (GO:0015187)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	GCGGGGACGAGGGCGCTGAAGCGCCCGTCGAGGGAGACATCC	0.671																																																0																																										SO:0001589	frameshift_variant	140679			AL133519	CCDS13307.1	20q11	2013-05-22			ENSG00000101438	ENSG00000101438		"Solute carriers"	11018	protein-coding gene	gene with protein product			"vesicular inhibitory amino acid transporter"	VIAAT		19843525	Standard	NM_080552		Approved	VGAT, bA122O1.1	uc002xjc.3	Q9H598	OTTHUMG00000032457	ENST00000217420.1:c.219_240delGGGCGCTGAAGCGCCCGTCGAG	chr20.hg19:g.37353586_37353607delGGGCGCTGAAGCGCCCGTCGAG	ENSP00000217420:p.Glu73fs		Q8N489	Frame_Shift_Del	DEL	ENST00000217420.1	hg19	CCDS13307.1																																																																																				0.671	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079206.1	NM_080552		-	37353607	GGGCGCTGAAGCGCCCGTCGAG	-	37353586	7	5	761	1	0	1	0	1	0	0	0	0	14571	991	35	0	221	0	SLC32A1	20	37353586	Frame_Shift_Del	DEL	GGGCGCTGAAGCGCCCGTCGAG	TCGA-MH-A55W-01A-11D-A26P-10		37353586	25671934	69	44872											
NCOA3	8202	hgsc.bcm.edu	37	20	46254225	46254225	+	Splice_Site	SNP	G	G	A			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr20:46254225G>A	ENST00000371998.3	+	5	548	c.357G>A	c.(355-357)caG>caA	p.Q119Q	NCOA3_ENST00000341724.6_Splice_Site_p.Q119Q|NCOA3_ENST00000372004.3_Splice_Site_p.Q119Q|NCOA3_ENST00000371997.3_Splice_Site_p.Q119Q			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	119	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.				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						TTTTACTTCAGGCAAGTATAA	0.343																																																0													76	71	73					20																	46254225		2203	4300	6503	SO:0001630	splice_region_variant	8202			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.357+1G>A	chr20.hg19:g.46254225G>A			A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	ENST00000371998.3	hg19	CCDS13407.1																																																																																				0.343	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534	Silent	A	46254225	G	A	46254225	5	1	761	1	0	0	0	0	0	0	1	0	10232	1014	35	2	367	2	NCOA3	20	46254225	Splice_Site	SNP	G	TCGA-MH-A55W-01A-11D-A26P-10	8900639	46254225	16771295	70	44873											
ADNP	23394	hgsc.bcm.edu	37	20	49509272	49509272	+	Missense_Mutation	SNP	A	A	G			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr20:49509272A>G	ENST00000396029.3	-	5	2546	c.1979T>C	c.(1978-1980)cTc>cCc	p.L660P	ADNP_ENST00000396032.3_Missense_Mutation_p.L660P|ADNP_ENST00000349014.3_Missense_Mutation_p.L660P|ADNP_ENST00000371602.4_Missense_Mutation_p.L660P	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	660					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						TTTGTAGGTGAGCTTTTTCTC	0.458																																																0													168	159	162					20																	49509272		2203	4300	6503	SO:0001583	missense	23394			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.1979T>C	chr20.hg19:g.49509272A>G	ENSP00000379346:p.Leu660Pro		E1P5Y2|O94881|Q5BKU2|Q9UG34	Missense_Mutation	SNP	ENST00000396029.3	hg19	CCDS13433.1	.	.	.	.	.	.	.	.	.	.	A	12.33	1.907002	0.33628	.	.	ENSG00000101126	ENST00000371602;ENST00000349014;ENST00000396029;ENST00000396032	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.45276	0.1334	N	0.17082	0.46	0.80722	D	1	B	0.25486	0.127	B	0.25140	0.058	T	0.40720	-0.9548	9	0.54805	T	0.06	-14.7154	16.4177	0.83748	1.0:0.0:0.0:0.0	.	660	Q9H2P0	ADNP_HUMAN	P	660	.	ENSP00000342905:L660P	L	-	2	0	ADNP	48942679	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.941000	0.92964	2.267000	0.75376	0.528000	0.53228	CTC		0.458	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079705.2	NM_181442		G	49509272	A	G	49509272	3	3	761	1	0	0	0	0	1	0	0	0	323	304	11	3	1333	3	ADNP	20	49509272	Missense_Mutation	SNP	A	TCGA-MH-A55W-01A-11D-A26P-10	3255047	49509272	13516248	71	44874											
LIPI	149998	hgsc.bcm.edu	37	21	15561570	15561570	+	Nonsense_Mutation	SNP	G	G	A	rs569460311		TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr21:15561570G>A	ENST00000536861.1	-	2	216	c.217C>T	c.(217-219)Caa>Taa	p.Q73*	LIPI_ENST00000344577.2_Nonsense_Mutation_p.Q94*			Q6XZB0	LIPI_HUMAN	lipase, member I	73					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)		GTTTTCTTTTGTGTGTTGAAA	0.378																																																0													140	125	130					21																	15561570		2203	4300	6503	SO:0001587	stop_gained	149998			BC028732	CCDS13564.1	21q11.2	2012-07-31			ENSG00000188992	ENSG00000188992			18821	protein-coding gene	gene with protein product	"membrane-associated phospholipase A1 beta", "cancer/testis antigen 17"	609252				12719377	Standard	XM_005260924		Approved	PRED5, LPDL, CT17, mPA-PLA1beta, PLA1C	uc002yjm.3	Q6XZB0	OTTHUMG00000074258	ENST00000536861.1:c.217C>T	chr21.hg19:g.15561570G>A	ENSP00000440381:p.Gln73*		G1JSG3|G1JSG4|G1JSG5|G1JSG6|G1JSG7|G1JSG8|G1JSG9	Nonsense_Mutation	SNP	ENST00000536861.1	hg19		.	.	.	.	.	.	.	.	.	.	G	25.4	4.631384	0.87660	.	.	ENSG00000188992	ENST00000344577;ENST00000536861	.	.	.	5.3	-2.36	0.06663	.	1.079770	0.06983	N	0.820308	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	1.3793	0.02227	0.1755:0.2196:0.1309:0.474	.	.	.	.	X	94;73	.	ENSP00000343331:Q94X	Q	-	1	0	LIPI	14483441	0.000000	0.05858	0.001000	0.08648	0.986000	0.74619	0.242000	0.18087	-0.342000	0.08363	-0.152000	0.13540	CAA		0.378	LIPI-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_198996		A	15561570	G	A	15561570	4	1	761	1	0	0	0	0	0	1	0	0	8827	1386	48	2	1201	2	LIPI	21	15561570	Nonsense_Mutation	SNP	G	TCGA-MH-A55W-01A-11D-A26P-10		15561570	32568325	72	44875											
HLCS	3141	hgsc.bcm.edu	37	21	38309141	38309141	+	Missense_Mutation	SNP	C	C	G	rs148324626		TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr21:38309141C>G	ENST00000399120.1	-	5	1834	c.604G>C	c.(604-606)Gag>Cag	p.E202Q	HLCS_ENST00000336648.4_Missense_Mutation_p.E202Q	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	202					biotin metabolic process (GO:0006768)|cell proliferation (GO:0008283)|histone biotinylation (GO:0071110)|histone modification (GO:0016570)|protein biotinylation (GO:0009305)|response to biotin (GO:0070781)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin-[acetyl-CoA-carboxylase] ligase activity (GO:0004077)|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity (GO:0004078)|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity (GO:0004079)|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity (GO:0004080)|biotin-protein ligase activity (GO:0018271)|enzyme binding (GO:0019899)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	GCACTGTCCTCCAGCAGGTGG	0.582																																																0								C	GLN/GLU,GLN/GLU,GLN/GLU	1,4405	2.1+/-5.4	0,1,2202	70	73	72		604,604,604	3	0	21	dbSNP_134	72	0,8600		0,0,4300	no	missense,missense,missense	HLCS	NM_000411.6,NM_001242784.1,NM_001242785.1	29,29,29	0,1,6502	GG,GC,CC		0.0,0.0227,0.0077	benign,benign,benign	202/727,202/727,202/727	38309141	1,13005	2203	4300	6503	SO:0001583	missense	3141				CCDS13647.1	21q22.1	2012-07-13	2010-04-30		ENSG00000159267	ENSG00000159267	6.3.4.9, 6.3.4.10, 6.3.4.11, 6.3.4.15		4976	protein-coding gene	gene with protein product		609018	"holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase)", "holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)"			7842009	Standard	NM_000411		Approved	HCS	uc021wjb.1	P50747	OTTHUMG00000086636	ENST00000399120.1:c.604G>C	chr21.hg19:g.38309141C>G	ENSP00000382071:p.Glu202Gln		B2RAH1|D3DSG6|Q99451	Missense_Mutation	SNP	ENST00000399120.1	hg19	CCDS13647.1	.	.	.	.	.	.	.	.	.	.	C	9.293	1.051089	0.19827	2.27E-4	0.0	ENSG00000159267	ENST00000399120;ENST00000336648	D;D	0.98164	-4.76;-4.76	5.91	2.99	0.34606	.	0.383875	0.32258	N	0.006346	D	0.94745	0.8304	L	0.35723	1.085	0.09310	N	1	B;B	0.13145	0.007;0.003	B;B	0.09377	0.004;0.004	D	0.84732	0.0746	10	0.15952	T	0.53	.	10.2355	0.43280	0.0:0.6608:0.2659:0.0733	.	202;202	B2RAH1;P50747	.;BPL1_HUMAN	Q	202	ENSP00000382071:E202Q;ENSP00000338387:E202Q	ENSP00000338387:E202Q	E	-	1	0	HLCS	37231011	0.279000	0.24239	0.001000	0.08648	0.283000	0.27025	1.771000	0.38542	0.335000	0.23614	0.655000	0.94253	GAG		0.582	HLCS-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194687.2			G	38309141	C	G	38309141	3	3	761	1	0	0	0	0	1	0	0	0	7215	864	30	4	1608	4	HLCS	21	38309141	Missense_Mutation	SNP	C	TCGA-MH-A55W-01A-11D-A26P-10	22747571	38309141	9820754	73	44876											
C21orf29	54084	hgsc.bcm.edu	37	21	45949793	45949793	+	Silent	SNP	G	G	A			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr21:45949793G>A	ENST00000323084.4	-	5	743	c.678C>T	c.(676-678)acC>acT	p.T226T	TSPEAR_ENST00000397916.1_Silent_p.T158T	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	226	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						ACAGCCTTGGGGTGGCGTCTG	0.662																																																0													35	39	37					21																	45949793		2203	4300	6503	SO:0001819	synonymous_variant	54084			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.678C>T	chr21.hg19:g.45949793G>A				Silent	SNP	ENST00000323084.4	hg19	CCDS13712.1																																																																																				0.662	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098761.1	NM_144991		A	45949793	G	A	45949793	2	1	761	1	0	0	0	0	0	0	0	1	2126	1219	43	2		2	C21orf29	21	45949793	Silent	SNP	G	TCGA-MH-A55W-01A-11D-A26P-10	7640652	45949793	2180102	74	44877											
IL17RA	23765	hgsc.bcm.edu	37	22	17566096	17566096	+	Silent	SNP	C	C	A			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr22:17566096C>A	ENST00000319363.6	+	1	248	c.115C>A	c.(115-117)Cgg>Agg	p.R39R	IL17RA_ENST00000477874.1_3'UTR	NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	39					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)		CCTGGACCACCGGGCGCTGGT	0.766																																																0													2	2	2					22																	17566096		1628	3503	5131	SO:0001819	synonymous_variant	23765			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.115C>A	chr22.hg19:g.17566096C>A			O43844|Q20WK1	Silent	SNP	ENST00000319363.6	hg19	CCDS13739.1																																																																																				0.766	IL17RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315820.1	NM_014339		A	17566096	C	A	17566096	2	1	761	1	0	0	0	0	0	0	0	1	7641	643	23	4		4	IL17RA	22	17566096	Silent	SNP	C	TCGA-MH-A55W-01A-11D-A26P-10		17566096	33738470	75	44878											
CSNK1E	1454	hgsc.bcm.edu	37	22	38690131	38690131	+	Missense_Mutation	SNP	C	C	T			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr22:38690131C>T	ENST00000396832.1	-	9	1462	c.1202G>A	c.(1201-1203)cGg>cAg	p.R401Q	CSNK1E_ENST00000359867.3_Missense_Mutation_p.R401Q|CSNK1E_ENST00000498529.1_5'Flank|CSNK1E_ENST00000403904.1_Missense_Mutation_p.R401Q|CSNK1E_ENST00000400206.2_Missense_Mutation_p.R401Q	NM_152221.2	NP_689407.1	P49674	KC1E_HUMAN	casein kinase 1, epsilon	401					cellular protein localization (GO:0034613)|circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Melanoma(58;0.045)					GGCTGGGATCCGGGAGACCTC	0.662																																					Esophageal Squamous(119;108 755 9651 12170 13692 17603 24932 28315 37982 41601)											0													26	27	27					22																	38690131		2201	4300	6501	SO:0001583	missense	1454				CCDS13970.1	22q13.1	2013-01-17			ENSG00000213923	ENSG00000213923			2453	protein-coding gene	gene with protein product		600863				7797465, 10535959	Standard	NM_001894		Approved	HCKIE, CKIE, CKIepsilon	uc003avk.3	P49674	OTTHUMG00000151135	ENST00000396832.1:c.1202G>A	chr22.hg19:g.38690131C>T	ENSP00000380044:p.Arg401Gln			Missense_Mutation	SNP	ENST00000396832.1	hg19	CCDS13970.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.1|25.1	4.600758|4.600758	0.87055|0.87055	.|.	.|.	ENSG00000213923|ENSG00000213923	ENST00000366216|ENST00000359867;ENST00000396832;ENST00000402865;ENST00000400206;ENST00000403904	.|T;T;T;T	.|0.57436	.|0.4;0.4;0.4;0.4	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	.|0.055638	.|0.64402	.|D	.|0.000001	T|T	0.59211|0.59211	0.2177|0.2177	N|N	0.12182|0.12182	0.205|0.205	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.83275	.|0.996	T|T	0.65175|0.65175	-0.6232|-0.6232	5|10	.|0.56958	.|D	.|0.05	.|.	20.063|20.063	0.97692|0.97692	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|401	.|P49674	.|KC1E_HUMAN	R|Q	104|401	.|ENSP00000352929:R401Q;ENSP00000380044:R401Q;ENSP00000383067:R401Q;ENSP00000384074:R401Q	.|ENSP00000352929:R401Q	G|R	-|-	1|2	0|0	CSNK1E|CSNK1E	37020077|37020077	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.254000|0.254000	0.26022|0.26022	7.482000|7.482000	0.81143|0.81143	2.735000|2.735000	0.93741|0.93741	0.655000|0.655000	0.94253|0.94253	GGA|CGG		0.662	CSNK1E-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321462.1	NM_001894		T	38690131	C	T	38690131	3	4	761	1	0	0	0	0	1	0	0	0	3955	652	23	1	56	1	CSNK1E	22	38690131	Missense_Mutation	SNP	C	TCGA-MH-A55W-01A-11D-A26P-10	21124035	38690131	12614435	76	44879											
SHANK3	85358	hgsc.bcm.edu	37	22	51160300	51160300	+	Missense_Mutation	SNP	C	C	G			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr22:51160300C>G	ENST00000414786.2	+	21	4224	c.3997C>G	c.(3997-3999)Cct>Gct	p.P1333A	SHANK3_ENST00000445220.2_Missense_Mutation_p.P1349A|SHANK3_ENST00000262795.3_Missense_Mutation_p.P1363A			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	1347	Pro-rich.		V -> G. {ECO:0000269|PubMed:20385823}.		adult behavior (GO:0030534)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|brain morphogenesis (GO:0048854)|dendritic spine morphogenesis (GO:0060997)|guanylate kinase-associated protein clustering (GO:0097117)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell volume (GO:0045794)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glutamate receptor signaling pathway (GO:1900451)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse structural plasticity (GO:0051835)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density assembly (GO:0097107)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of long term synaptic depression (GO:1900452)|regulation of long-term synaptic potentiation (GO:1900271)|social behavior (GO:0035176)|striatal medium spiny neuron differentiation (GO:0021773)|synapse assembly (GO:0007416)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|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)		BRCA - Breast invasive adenocarcinoma(115;0.22)		TGAGCCACCCCCTGCCCCTGA	0.711																																																0													8	10	9					22																	51160300		1900	4008	5908	SO:0001583	missense	85358			AB051437		22q13.3	2013-11-14			ENSG00000251322	ENSG00000251322		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14294	protein-coding gene	gene with protein product	"proline rich synapse associated protein 2", "shank postsynaptic density protein"	606230				11258795, 11431708, 10806096, 17173049	Standard	NM_033517		Approved	SPANK-2, prosap2, KIAA1650, PSAP2	uc031ryd.1	Q9BYB0	OTTHUMG00000150169	ENST00000414786.2:c.3997C>G	chr22.hg19:g.51160300C>G	ENSP00000464552:p.Pro1333Ala		D7UT47|Q8TET3	Missense_Mutation	SNP	ENST00000414786.2	hg19		.	.	.	.	.	.	.	.	.	.	C	15.71	2.913103	0.52439	.	.	ENSG00000251322	ENST00000262795;ENST00000445220	T;T	0.18960	2.18;2.18	5.11	5.11	0.69529	.	0.073236	0.56097	D	0.000028	T	0.28167	0.0695	M	0.78456	2.415	0.28658	N	0.906287	B;B;B	0.28512	0.176;0.096;0.214	B;B;B	0.25884	0.064;0.036;0.052	T	0.13683	-1.0500	10	0.34782	T	0.22	.	16.0382	0.80645	0.0:1.0:0.0:0.0	.	1347;1348;1363	D7UT47;Q9BYB0;F2Z3L0	.;SHAN3_HUMAN;.	A	1363;1349	ENSP00000442518:P1363A;ENSP00000446078:P1349A	ENSP00000442518:P1363A	P	+	1	0	SHANK3	49507166	0.230000	0.23740	0.974000	0.42286	0.986000	0.74619	1.882000	0.39648	2.381000	0.81170	0.462000	0.41574	CCT		0.711	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000316674.2	NM_001080420		G	51160300	C	G	51160300	3	3	761	1	0	0	0	0	1	0	0	0	14272	623	22	4	4173	4	SHANK3	22	51160300	Missense_Mutation	SNP	C	TCGA-MH-A55W-01A-11D-A26P-10	12470169	51160300	144266	77	44880											
WWC3	55841	hgsc.bcm.edu	37	X	10066562	10066562	+	Missense_Mutation	SNP	A	A	C			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chrX:10066562A>C	ENST00000380861.4	+	8	1065	c.674A>C	c.(673-675)aAa>aCa	p.K225T	WWC3_ENST00000454666.1_Missense_Mutation_p.K225T	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	225					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						TTTGATGATAAAACAAGACTT	0.353																																																0													78	73	75					X																	10066562		2203	4300	6503	SO:0001583	missense	55841			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.674A>C	chrX.hg19:g.10066562A>C	ENSP00000370242:p.Lys225Thr		A8KA96|Q659C1|Q9BTQ1	Missense_Mutation	SNP	ENST00000380861.4	hg19	CCDS14136.1	.	.	.	.	.	.	.	.	.	.	A	16.55	3.155337	0.57259	.	.	ENSG00000047644	ENST00000380861;ENST00000454666;ENST00000398613	T;T	0.05199	3.48;3.48	5.49	5.49	0.81192	.	0.217302	0.48286	D	0.000185	T	0.07954	0.0199	L	0.51422	1.61	0.39975	D	0.974846	P	0.39424	0.673	B	0.37144	0.242	T	0.38845	-0.9642	10	0.19590	T	0.45	-27.9526	14.6222	0.68594	1.0:0.0:0.0:0.0	.	225	Q9ULE0	WWC3_HUMAN	T	225	ENSP00000370242:K225T;ENSP00000399584:K225T	ENSP00000370242:K225T	K	+	2	0	WWC3	10026562	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	3.309000	0.51903	1.834000	0.53371	0.339000	0.21740	AAA		0.353	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	NM_015691		C	10066562	A	C	10066562	3	2	761	1	0	0	0	0	1	0	0	0	17418	14	1	5	700	5	WWC3	23	10066562	Missense_Mutation	SNP	A	TCGA-MH-A55W-01A-11D-A26P-10		10066562	145203998	78	44881											
UBR4	23352	hgsc.bcm.edu	37	1	19504023	19504023	+	Missense_Mutation	SNP	G	G	C			TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr1:19504023G>C	ENST00000375254.3	-	19	2596	c.2569C>G	c.(2569-2571)Cgc>Ggc	p.R857G	UBR4_ENST00000375226.2_Missense_Mutation_p.R857G|UBR4_ENST00000375267.2_Missense_Mutation_p.R857G|UBR4_ENST00000375217.2_Missense_Mutation_p.R857G	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	857					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)		AGAAGGAGGCGAGCCAAGATA	0.498																																																0													133	126	128					1																	19504023		2203	4300	6503	SO:0001583	missense	23352			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.2569C>G	chr1.hg19:g.19504023G>C	ENSP00000364403:p.Arg857Gly		A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	hg19	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.909893	0.92107	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000419533	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.60728	0.2291	L	0.50333	1.59	0.80722	D	1	D	0.60160	0.987	D	0.67725	0.953	T	0.61043	-0.7142	10	0.87932	D	0	.	19.4792	0.95002	0.0:0.0:1.0:0.0	.	857	Q5T4S7	UBR4_HUMAN	G	857;857;857;857;73	ENSP00000364403:R857G;ENSP00000364416:R857G;ENSP00000364365:R857G;ENSP00000364374:R857G	ENSP00000364365:R857G	R	-	1	0	UBR4	19376610	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.238000	0.95380	2.713000	0.92767	0.655000	0.94253	CGC		0.498	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		C	19504023	G	C	19504023	3	2	762	1	0	0	0	0	1	0	0	0	16909	1058	37	4	13334	4	UBR4	1	19504023	Missense_Mutation	SNP	G	TCGA-MH-A55Z-01A-11D-A26P-10		19504023	229746598	1	44882											
GJB5	2709	hgsc.bcm.edu	37	1	35223633	35223633	+	Silent	SNP	C	C	T			TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr1:35223633C>T	ENST00000338513.1	+	2	875	c.702C>T	c.(700-702)acC>acT	p.T234T	GJB4_ENST00000339480.1_5'Flank	NM_005268.3	NP_005259.1	O95377	CXB5_HUMAN	gap junction protein, beta 5, 31.1kDa	234					cell communication (GO:0007154)|epidermis development (GO:0008544)|labyrinthine layer morphogenesis (GO:0060713)|spongiotrophoblast differentiation (GO:0060708)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10		Myeloproliferative disorder(586;0.0393)				CCCACGGTACCACCTCTTCCT	0.572																																																0													156	129	138					1																	35223633		2203	4300	6503	SO:0001819	synonymous_variant	2709			BC004379	CCDS382.1	1p34.3	2008-05-14	2007-11-06		ENSG00000189280	ENSG00000189280		"Ion channels / Gap junction proteins (connexins)"	4287	protein-coding gene	gene with protein product	"connexin 31.1"	604493	"gap junction protein, beta 5 (connexin 31.1)", "gap junction protein, beta 5"			9843209	Standard	NM_005268		Approved	CX31.1	uc001bxu.4	O95377	OTTHUMG00000004053	ENST00000338513.1:c.702C>T	chr1.hg19:g.35223633C>T			Q9UPA3	Silent	SNP	ENST00000338513.1	hg19	CCDS382.1																																																																																				0.572	GJB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011561.1	NM_005268		T	35223633	C	T	35223633	2	4	762	1	0	0	0	0	0	0	0	1	6413	581	21	2		2	GJB5	1	35223633	Silent	SNP	C	TCGA-MH-A55Z-01A-11D-A26P-10	15719610	35223633	214026988	2	44883											
GNL2	29889	hgsc.bcm.edu	37	1	38040324	38040324	+	Missense_Mutation	SNP	C	C	G			TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr1:38040324C>G	ENST00000373062.3	-	11	1342	c.1244G>C	c.(1243-1245)tGg>tCg	p.W415S		NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	415					GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				AGCATTCTCCCAAGAATCAAT	0.418																																																0													92	85	88					1																	38040324		2203	4300	6503	SO:0001583	missense	29889			L05425	CCDS421.1	1p34	2008-02-05			ENSG00000134697	ENSG00000134697			29925	protein-coding gene	gene with protein product		609365				8822211	Standard	NM_013285		Approved	Ngp-1, HUMAUANTIG	uc001cbk.3	Q13823	OTTHUMG00000004322	ENST00000373062.3:c.1244G>C	chr1.hg19:g.38040324C>G	ENSP00000362153:p.Trp415Ser		Q9BWN7	Missense_Mutation	SNP	ENST00000373062.3	hg19	CCDS421.1	.	.	.	.	.	.	.	.	.	.	C	33	5.223863	0.95139	.	.	ENSG00000134697	ENST00000373062	T	0.12774	2.65	5.87	5.87	0.94306	GTP-binding protein, orthogonal bundle domain (1);	0.000000	0.85682	D	0.000000	T	0.45438	0.1342	M	0.86420	2.815	0.80722	D	1	D	0.63046	0.992	D	0.66497	0.944	T	0.44143	-0.9347	10	0.72032	D	0.01	-11.3487	20.5827	0.99408	0.0:1.0:0.0:0.0	.	415	Q13823	NOG2_HUMAN	S	415	ENSP00000362153:W415S	ENSP00000362153:W415S	W	-	2	0	GNL2	37812911	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.786000	0.85741	2.941000	0.99782	0.655000	0.94253	TGG		0.418	GNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012478.1	NM_013285		G	38040324	C	G	38040324	3	3	762	1	0	0	0	0	1	0	0	0	6538	595	21	4	975	4	GNL2	1	38040324	Missense_Mutation	SNP	C	TCGA-MH-A55Z-01A-11D-A26P-10	2816691	38040324	211210297	3	44884											
ATP1A1	476	hgsc.bcm.edu	37	1	116941337	116941337	+	Missense_Mutation	SNP	A	A	G			TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr1:116941337A>G	ENST00000295598.5	+	16	2471	c.2219A>G	c.(2218-2220)gAt>gGt	p.D740G	ATP1A1_ENST00000369496.4_Missense_Mutation_p.D709G|ATP1A1_ENST00000537345.1_Missense_Mutation_p.D740G	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	740					ATP biosynthetic process (GO:0006754)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	GCTGGCTCAGATGTGTCCAAG	0.493																																																0													201	191	194					1																	116941337		2203	4300	6503	SO:0001583	missense	476			D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"ATPases / P-type"	799	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-1", "sodium pump subunit alpha-1", "sodium-potassium ATPase catalytic subunit alpha-1"	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.2219A>G	chr1.hg19:g.116941337A>G	ENSP00000295598:p.Asp740Gly		B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Missense_Mutation	SNP	ENST00000295598.5	hg19	CCDS887.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.803837	0.90623	.	.	ENSG00000163399	ENST00000295598;ENST00000537345;ENST00000369496	D;D;D	0.83419	-1.72;-1.72;-1.72	5.23	5.23	0.72850	HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.92622	0.7656	H	0.94847	3.59	0.80722	D	1	D;D	0.89917	1.0;0.995	D;D	0.97110	1.0;0.999	D	0.94580	0.7778	10	0.87932	D	0	.	15.2911	0.73868	1.0:0.0:0.0:0.0	.	740;740	F5H3A1;P05023	.;AT1A1_HUMAN	G	740;740;709	ENSP00000295598:D740G;ENSP00000445306:D740G;ENSP00000358508:D709G	ENSP00000295598:D740G	D	+	2	0	ATP1A1	116742860	1.000000	0.71417	0.550000	0.28217	0.991000	0.79684	9.139000	0.94554	2.195000	0.70347	0.533000	0.62120	GAT		0.493	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033481.5	NM_001160233		G	116941337	A	G	116941337	3	3	762	1	0	0	0	0	1	0	0	0	1128	333	12	3	2297	3	ATP1A1	1	116941337	Missense_Mutation	SNP	A	TCGA-MH-A55Z-01A-11D-A26P-10	78901013	116941337	132309284	4	44885											
LCE2A	353139	hgsc.bcm.edu	37	1	152671534	152671534	+	Missense_Mutation	SNP	G	G	A			TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr1:152671534G>A	ENST00000368779.1	+	2	208	c.157G>A	c.(157-159)Ggc>Agc	p.G53S		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	53	Cys-rich.				keratinization (GO:0031424)			p.C51_G64delCCGSSSGGCCSSGG(2)		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)			GGGCTGCTGCGGCTCCAGCTC	0.692																																																2	Deletion - In frame(2)	liver(2)											48	61	56					1																	152671534		2203	4299	6502	SO:0001583	missense	353139				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.157G>A	chr1.hg19:g.152671534G>A	ENSP00000357768:p.Gly53Ser		A4QMZ9	Missense_Mutation	SNP	ENST00000368779.1	hg19	CCDS1021.1	.	.	.	.	.	.	.	.	.	.	-	6.374	0.437046	0.12104	.	.	ENSG00000187173	ENST00000368779	T	0.03717	3.83	3.72	2.79	0.32731	.	.	.	.	.	T	0.01222	0.0040	L	0.51853	1.615	0.09310	N	1	P	0.39964	0.697	B	0.29353	0.101	T	0.47394	-0.9121	9	0.87932	D	0	.	6.8388	0.23951	0.1374:0.0:0.8626:0.0	.	53	Q5TA79	LCE2A_HUMAN	S	53	ENSP00000357768:G53S	ENSP00000357768:G53S	G	+	1	0	LCE2A	150938158	0.982000	0.34865	0.111000	0.21465	0.270000	0.26580	0.561000	0.23515	0.525000	0.28522	0.580000	0.79431	GGC		0.692	LCE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034512.1	NM_178428		A	152671534	G	A	152671534	3	1	762	1	0	0	0	0	1	0	0	0	8667	1116	39	1	159	1	LCE2A	1	152671534	Missense_Mutation	SNP	G	TCGA-MH-A55Z-01A-11D-A26P-10	35730197	152671534	96579087	5	44886											
OR6Y1	391112	hgsc.bcm.edu	37	1	158517180	158517180	+	Missense_Mutation	SNP	C	C	T			TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr1:158517180C>T	ENST00000302617.3	-	1	715	c.716G>A	c.(715-717)cGc>cAc	p.R239H		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, 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)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					TGCCTTTTGGCGGCCCTGAGC	0.522																																																0													137	136	137					1																	158517180		2202	4300	6502	SO:0001583	missense	391112			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.716G>A	chr1.hg19:g.158517180C>T	ENSP00000304807:p.Arg239His		Q6IFS0	Missense_Mutation	SNP	ENST00000302617.3	hg19	CCDS30899.1	.	.	.	.	.	.	.	.	.	.	C	17.84	3.487953	0.64074	.	.	ENSG00000197532	ENST00000302617	T	0.00333	8.07	5.34	4.41	0.53225	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42964	D	0.000631	T	0.00524	0.0017	M	0.90759	3.145	0.09310	N	1	D	0.89917	1.0	D	0.81914	0.995	T	0.30297	-0.9983	10	0.87932	D	0	.	13.4384	0.61096	0.0:0.9214:0.0:0.0786	.	239	Q8NGX8	OR6Y1_HUMAN	H	239	ENSP00000304807:R239H	ENSP00000304807:R239H	R	-	2	0	OR6Y1	156783804	0.003000	0.15002	0.951000	0.38953	0.889000	0.51656	1.500000	0.35682	2.763000	0.94921	0.655000	0.94253	CGC		0.522	OR6Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051844.1	NM_001005189		T	158517180	C	T	158517180	3	4	762	1	0	0	0	0	1	0	0	0	11215	768	27	1	263	1	OR6Y1	1	158517180	Missense_Mutation	SNP	C	TCGA-MH-A55Z-01A-11D-A26P-10	5845646	158517180	90733441	6	44887											
OBSCN	84033	hgsc.bcm.edu	37	1	228469852	228469852	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr1:228469852G>T	ENST00000422127.1	+	31	8460	c.8416G>T	c.(8416-8418)Gag>Tag	p.E2806*	OBSCN_ENST00000284548.11_Nonsense_Mutation_p.E2806*|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000570156.2_Nonsense_Mutation_p.E3235*|OBSCN_ENST00000359599.6_Nonsense_Mutation_p.E1653*	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2806	Ig-like 27.				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)				TGATGCCGGGGAGGTGGTCTT	0.647																																																0													32	38	36					1																	228469852		1989	4156	6145	SO:0001587	stop_gained	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.8416G>T	chr1.hg19:g.228469852G>T	ENSP00000409493:p.Glu2806*		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Nonsense_Mutation	SNP	ENST00000422127.1	hg19	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	17.68	3.448476	0.63178	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599;ENST00000366706;ENST00000366704	.	.	.	4.21	4.21	0.49690	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	16.9495	0.86240	0.0:0.0:1.0:0.0	.	.	.	.	X	2806;2806;1653;505;212	.	ENSP00000284548:E2806X	E	+	1	0	OBSCN	226536475	1.000000	0.71417	0.992000	0.48379	0.321000	0.28281	9.350000	0.97070	2.063000	0.61619	0.462000	0.41574	GAG		0.647	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		T	228469852	G	T	228469852	4	4	762	1	0	0	0	0	0	1	0	0	10814	1175	41	4	8534	4	OBSCN	1	228469852	Nonsense_Mutation	SNP	G	TCGA-MH-A55Z-01A-11D-A26P-10	69952672	228469852	20780769	7	44888											
LYST	1130	hgsc.bcm.edu	37	1	235884164	235884164	+	Silent	SNP	G	G	A			TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr1:235884164G>A	ENST00000389794.3	-	40	9531	c.9357C>T	c.(9355-9357)ctC>ctT	p.L3119L	LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Silent_p.L3119L			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3119					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)			GAAGATTAGGGAGGTTATTTG	0.328																																																0													121	119	120					1																	235884164		2203	4300	6503	SO:0001819	synonymous_variant	1130			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.9357C>T	chr1.hg19:g.235884164G>A			O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Silent	SNP	ENST00000389794.3	hg19	CCDS31062.1																																																																																				0.328	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			A	235884164	G	A	235884164	2	1	762	1	0	0	0	0	0	0	0	1	9130	1161	41	2		2	LYST	1	235884164	Silent	SNP	G	TCGA-MH-A55Z-01A-11D-A26P-10	7414312	235884164	13366457	8	44889											
FAM110C	642273	hgsc.bcm.edu	37	2	45688	45688	+	Missense_Mutation	SNP	C	C	T			TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr2:45688C>T	ENST00000327669.4	-	1	697	c.698G>A	c.(697-699)gGg>gAg	p.G233E	FAM110C_ENST00000460464.1_5'Flank	NM_001077710.2	NP_001071178.2	Q1W6H9	F110C_HUMAN	family with sequence similarity 110, member C	233					positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell projection assembly (GO:0060491)	cell cortex (GO:0005938)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)			central_nervous_system(1)|kidney(1)|lung(2)	4	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00221)		all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232)		GTTCTCCCTCCCCAGGGCCTC	0.682																																																0													12	15	14					2																	45688		2074	4200	6274	SO:0001583	missense	642273			DQ431183	CCDS42645.1	2p25.3	2011-12-01			ENSG00000184731	ENSG00000184731			33340	protein-coding gene	gene with protein product		611395				17499476, 19698782	Standard	NM_001077710		Approved		uc010yim.2	Q1W6H9	OTTHUMG00000151321	ENST00000327669.4:c.698G>A	chr2.hg19:g.45688C>T	ENSP00000328347:p.Gly233Glu			Missense_Mutation	SNP	ENST00000327669.4	hg19	CCDS42645.1	.	.	.	.	.	.	.	.	.	.	C	18.41	3.618544	0.66787	.	.	ENSG00000184731	ENST00000327669	T	0.50548	0.74	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.67011	0.2848	M	0.70595	2.14	0.42278	D	0.992084	D	0.71674	0.998	D	0.74674	0.984	T	0.71879	-0.4459	10	0.72032	D	0.01	-10.2308	15.3421	0.74306	0.0:1.0:0.0:0.0	.	233	Q1W6H9	F110C_HUMAN	E	233	ENSP00000328347:G233E	ENSP00000328347:G233E	G	-	2	0	FAM110C	35688	0.991000	0.36638	0.057000	0.19452	0.348000	0.29142	3.654000	0.54453	2.277000	0.76020	0.561000	0.74099	GGG		0.682	FAM110C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322220.1	NM_001077710		T	45688	C	T	45688	3	4	762	1	0	0	0	0	1	0	0	0	5400	623	22	2	275	2	FAM110C	2	45688	Missense_Mutation	SNP	C	TCGA-MH-A55Z-01A-11D-A26P-10		45688	243153685	9	44890											
DNMT3A	1788	hgsc.bcm.edu	37	2	25469542	25469542	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr2:25469542C>T	ENST00000264709.3	-	10	1563	c.1226G>A	c.(1225-1227)tGg>tAg	p.W409*	DNMT3A_ENST00000402667.1_Nonsense_Mutation_p.W186*|DNMT3A_ENST00000380746.4_Nonsense_Mutation_p.W220*|DNMT3A_ENST00000321117.5_Nonsense_Mutation_p.W409*|DNMT3A_ENST00000474887.1_5'Flank	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	409					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)					CCCCAGGGCCCATTCAATCAT	0.647			"Mis, F, N, S"		AML																																		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	0													61	61	61					2																	25469542		2203	4298	6501	SO:0001587	stop_gained	1788				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.1226G>A	chr2.hg19:g.25469542C>T	ENSP00000264709:p.Trp409*		E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Nonsense_Mutation	SNP	ENST00000264709.3	hg19	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	C	37	6.406269	0.97542	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	.	.	.	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.0978	15.5438	0.76077	0.0:1.0:0.0:0.0	.	.	.	.	X	220;409;409;186	.	ENSP00000264709:W409X	W	-	2	0	DNMT3A	25323046	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	7.528000	0.81941	2.535000	0.85469	0.655000	0.94253	TGG		0.647	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		T	25469542	C	T	25469542	4	4	762	1	0	0	0	0	0	1	0	0	4678	595	21	2	1568	2	DNMT3A	2	25469542	Nonsense_Mutation	SNP	C	TCGA-MH-A55Z-01A-11D-A26P-10	25423854	25469542	217729831	10	44891											
C2orf16	84226	hgsc.bcm.edu	37	2	27801772	27801772	+	Missense_Mutation	SNP	A	A	T			TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr2:27801772A>T	ENST00000408964.2	+	1	2384	c.2333A>T	c.(2332-2334)gAa>gTa	p.E778V	AC074091.1_ENST00000408604.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	778						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)					TTGCAGCCTGAAGAGACCTAT	0.403																																																0													170	168	168					2																	27801772		1824	4081	5905	SO:0001583	missense	84226			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.2333A>T	chr2.hg19:g.27801772A>T	ENSP00000386190:p.Glu778Val		B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	hg19	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	A	12.72	2.022880	0.35701	.	.	ENSG00000221843	ENST00000408964	T	0.06768	3.26	5.39	-2.51	0.06365	.	.	.	.	.	T	0.05868	0.0153	N	0.24115	0.695	0.09310	N	1	P	0.46512	0.879	P	0.45449	0.481	T	0.28681	-1.0036	9	0.66056	D	0.02	.	2.4234	0.04454	0.285:0.1502:0.4258:0.139	.	778	Q68DN1	CB016_HUMAN	V	778	ENSP00000386190:E778V	ENSP00000386190:E778V	E	+	2	0	C2orf16	27655276	0.056000	0.20664	0.033000	0.17914	0.105000	0.19272	0.158000	0.16422	-0.136000	0.11475	0.459000	0.35465	GAA		0.403	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		T	27801772	A	T	27801772	3	4	762	1	0	0	0	0	1	0	0	0	2159	246	9	5	2335	5	C2orf16	2	27801772	Missense_Mutation	SNP	A	TCGA-MH-A55Z-01A-11D-A26P-10	2332230	27801772	215397601	11	44892											
GEMIN6	79833	hgsc.bcm.edu	37	2	39008788	39008788	+	Silent	SNP	C	C	T			TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr2:39008788C>T	ENST00000281950.3	+	3	374	c.258C>T	c.(256-258)ttC>ttT	p.F86F	GEMIN6_ENST00000409011.1_3'UTR|GEMIN6_ENST00000409566.1_3'UTR	NM_024775.9	NP_079051.9	Q8WXD5	GEMI6_HUMAN	gem (nuclear organelle) associated protein 6	86					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)				TGCATTTGTTCACGTCTGGAG	0.478																																																0													102	88	92					2																	39008788		2203	4300	6503	SO:0001819	synonymous_variant	79833			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.258C>T	chr2.hg19:g.39008788C>T			B2RDP8|Q53SI5|Q8WVB4|Q9H5G6	Silent	SNP	ENST00000281950.3	hg19	CCDS1799.1																																																																																				0.478	GEMIN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250441.3			T	39008788	C	T	39008788	2	4	762	1	0	0	0	0	0	0	0	1	6334	825	29	2		2	GEMIN6	2	39008788	Silent	SNP	C	TCGA-MH-A55Z-01A-11D-A26P-10	11207016	39008788	204190585	12	44893											
ZNF638	27332	hgsc.bcm.edu	37	2	71607375	71607375	+	Silent	SNP	T	T	C			TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr2:71607375T>C	ENST00000409544.1	+	9	2919	c.2289T>C	c.(2287-2289)acT>acC	p.T763T	ZNF638_ENST00000355812.3_Silent_p.T763T|ZNF638_ENST00000264447.4_Silent_p.T763T|ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000377802.2_Silent_p.T763T|RNU6-105P_ENST00000363909.1_RNA	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	763					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						AGAAAAAGACTTTAGAGTCAA	0.249																																																0													33	33	33					2																	71607375		2189	4242	6431	SO:0001819	synonymous_variant	27332			D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"RNA binding motif (RRM) containing"	17894	protein-coding gene	gene with protein product		614349	"zinc finger, matrin-like"	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.2289T>C	chr2.hg19:g.71607375T>C			B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Silent	SNP	ENST00000409544.1	hg19	CCDS1917.1																																																																																				0.249	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		C	71607375	T	C	71607375	2	2	762	1	0	0	0	0	0	0	0	1	18060	1596	56	3		3	ZNF638	2	71607375	Silent	SNP	T	TCGA-MH-A55Z-01A-11D-A26P-10	32598587	71607375	171591998	13	44894											
FER1L5	90342	hgsc.bcm.edu	37	2	97359251	97359251	+	RNA	SNP	A	A	T			TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr2:97359251A>T	ENST00000457909.1	+	0	1760							A0AVI2	FR1L5_HUMAN	fer-1-like family member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						AGGGCCCTTCATTCGGGTGGT	0.612																																																0													58	69	66					2																	97359251		692	1591	2283			90342			BC126368		2q11.2	2014-06-27	2014-06-27		ENSG00000249715	ENSG00000249715			19044	protein-coding gene	gene with protein product			"fer-1-like 5 (C. elegans)"				Standard	XM_006712826		Approved	DKFZp434I0121	uc010fia.3	A0AVI2	OTTHUMG00000154929		chr2.hg19:g.97359251A>T			Q17RH2|Q6ZU24	Missense_Mutation	SNP	ENST00000457909.1	hg19		.	.	.	.	.	.	.	.	.	.	A	9.661	1.144037	0.21205	.	.	ENSG00000214272	ENST00000414152;ENST00000436930	.	.	.	5.31	-0.268	0.12934	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	.	.	.	.	T	0.57651	0.2068	M	0.62723	1.935	.	.	.	P	0.50369	0.934	P	0.52856	0.711	T	0.66508	-0.5906	7	0.66056	D	0.02	-3.7442	9.6818	0.40074	0.4125:0.0:0.5875:0.0	.	1128	A0AVI2	FR1L5_HUMAN	F	1128;1086	.	ENSP00000444148:I1128F	I	+	1	0	FER1L5	96722978	0.149000	0.22717	0.255000	0.24374	0.514000	0.34195	1.218000	0.32467	-0.049000	0.13379	0.459000	0.35465	ATT		0.612	FER1L5-001	KNOWN	basic|exp_conf	retained_intron	pseudogene	OTTHUMT00000339030.1	NM_001077400		T	97359251	A	T	97359251	1	4	762	0	1	0	0	0	0	0	0	0	5816	217	8	5		5	FER1L5	2	97359251	RNA	SNP	A	TCGA-MH-A55Z-01A-11D-A26P-10	25751876	97359251	145840122	14	44895											
ST6GAL2	84620	hgsc.bcm.edu	37	2	107459932	107459932	+	Missense_Mutation	SNP	C	C	G			TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr2:107459932C>G	ENST00000409382.3	-	2	1112	c.502G>C	c.(502-504)Gtc>Ctc	p.V168L	ST6GAL2_ENST00000409087.3_Missense_Mutation_p.V168L|AC016994.2_ENST00000425419.1_RNA|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.V168L	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	168					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)			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						CTCCTCTGGACCTGTGCAGCC	0.662																																																0													78	90	86					2																	107459932		2203	4300	6503	SO:0001583	missense	84620			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.502G>C	chr2.hg19:g.107459932C>G	ENSP00000386942:p.Val168Leu		D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	ENST00000409382.3	hg19	CCDS2073.1	.	.	.	.	.	.	.	.	.	.	C	1.093	-0.663505	0.03428	.	.	ENSG00000144057	ENST00000361686;ENST00000409382;ENST00000409087	T;T;T	0.30714	2.53;2.53;1.52	2.52	1.61	0.23674	.	2.704170	0.01639	N	0.023935	T	0.17109	0.0411	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	0.17501	-1.0367	10	0.19147	T	0.46	.	6.3831	0.21546	0.0:0.6285:0.0:0.3715	.	168;168	Q96JF0-2;Q96JF0	.;SIAT2_HUMAN	L	168	ENSP00000355273:V168L;ENSP00000386942:V168L;ENSP00000387332:V168L	ENSP00000355273:V168L	V	-	1	0	ST6GAL2	106826364	0.000000	0.05858	0.000000	0.03702	0.186000	0.23388	0.013000	0.13310	0.339000	0.23719	0.561000	0.74099	GTC		0.662	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528		G	107459932	C	G	107459932	3	3	762	1	0	0	0	0	1	0	0	0	15227	507	18	4	1194	4	ST6GAL2	2	107459932	Missense_Mutation	SNP	C	TCGA-MH-A55Z-01A-11D-A26P-10	10100681	107459932	135739441	15	44896											
TNFAIP6	7130	hgsc.bcm.edu	37	2	152235994	152235994	+	Missense_Mutation	SNP	A	A	T			TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr2:152235994A>T	ENST00000243347.3	+	6	856	c.781A>T	c.(781-783)Act>Tct	p.T261S		NM_007115.3	NP_009046.2	P98066	TSG6_HUMAN	tumor necrosis factor, alpha-induced protein 6	261					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)		hyaluronic acid binding (GO:0005540)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.131)	Hyaluronan(DB08818)	AAATACAAGTACTACTTCTAC	0.333																																																0													84	90	88					2																	152235994		2203	4300	6503	SO:0001583	missense	7130				CCDS2193.1	2q23.3	2008-11-18			ENSG00000123610	ENSG00000123610			11898	protein-coding gene	gene with protein product		600410				1730767, 8568267, 15060082	Standard	NM_007115		Approved	TSG6, TSG-6	uc002txk.3	P98066	OTTHUMG00000131884	ENST00000243347.3:c.781A>T	chr2.hg19:g.152235994A>T	ENSP00000243347:p.Thr261Ser		Q53TI7|Q8WWI9	Missense_Mutation	SNP	ENST00000243347.3	hg19	CCDS2193.1	.	.	.	.	.	.	.	.	.	.	A	8.550	0.875364	0.17395	.	.	ENSG00000123610	ENST00000243347	T	0.18174	2.23	5.56	1.83	0.25207	.	0.332619	0.29185	N	0.012896	T	0.07773	0.0195	N	0.17082	0.46	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.33497	-0.9866	10	0.21540	T	0.41	.	3.4438	0.07473	0.6522:0.0:0.1812:0.1666	.	261	P98066	TSG6_HUMAN	S	261	ENSP00000243347:T261S	ENSP00000243347:T261S	T	+	1	0	TNFAIP6	151944240	0.044000	0.20184	0.250000	0.24296	0.441000	0.31987	1.210000	0.32370	0.063000	0.16370	0.533000	0.62120	ACT		0.333	TNFAIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254834.2	NM_007115		T	152235994	A	T	152235994	3	4	762	1	0	0	0	0	1	0	0	0	16280	391	14	5	803	5	TNFAIP6	2	152235994	Missense_Mutation	SNP	A	TCGA-MH-A55Z-01A-11D-A26P-10	44776062	152235994	90963379	16	44897											
SMARCAL1	50485	hgsc.bcm.edu	37	2	217285132	217285132	+	Missense_Mutation	SNP	G	G	A			TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr2:217285132G>A	ENST00000357276.4	+	5	1303	c.973G>A	c.(973-975)Gct>Act	p.A325T	SMARCAL1_ENST00000358207.5_Missense_Mutation_p.A325T	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	325					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		CCTTCCATCAGCTCCATCCCT	0.562									Schimke Immuno-Osseous Dysplasia																																							0													121	100	108					2																	217285132		2203	4300	6503	SO:0001583	missense	50485	Familial Cancer Database	SIOD	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"HepA-related protein", "ATP-driven annealing helicase"	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.973G>A	chr2.hg19:g.217285132G>A	ENSP00000349823:p.Ala325Thr		A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Missense_Mutation	SNP	ENST00000357276.4	hg19	CCDS2403.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.590173	0.46214	.	.	ENSG00000138375	ENST00000357276;ENST00000358207;ENST00000427645;ENST00000392128;ENST00000412913	D;D;T;D;T	0.86097	-2.04;-2.04;1.45;-2.07;0.63	4.85	4.85	0.62838	.	0.704849	0.14015	N	0.347188	T	0.80711	0.4675	L	0.59436	1.845	0.09310	N	1	P	0.37612	0.602	B	0.31290	0.127	T	0.71968	-0.4432	10	0.28530	T	0.3	-12.6293	13.2969	0.60303	0.0:0.1601:0.8399:0.0	.	325	Q9NZC9	SMAL1_HUMAN	T	325;325;224;189;45	ENSP00000349823:A325T;ENSP00000350940:A325T;ENSP00000392997:A224T;ENSP00000375974:A189T;ENSP00000390248:A45T	ENSP00000349823:A325T	A	+	1	0	SMARCAL1	216993377	0.682000	0.27624	0.373000	0.26003	0.202000	0.24057	4.009000	0.57110	2.531000	0.85337	0.561000	0.74099	GCT		0.562	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256671.2			A	217285132	G	A	217285132	3	1	762	1	0	0	0	0	1	0	0	0	14779	971	34	2	983	2	SMARCAL1	2	217285132	Missense_Mutation	SNP	G	TCGA-MH-A55Z-01A-11D-A26P-10	65049138	217285132	25914241	17	44898											
KCNJ13	3769	hgsc.bcm.edu	37	2	233633228	233633228	+	Silent	SNP	A	A	T			TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr2:233633228A>T	ENST00000233826.3	-	3	895	c.756T>A	c.(754-756)ccT>ccA	p.P252P	GIGYF2_ENST00000373566.3_Intron|KCNJ13_ENST00000409779.1_3'UTR|GIGYF2_ENST00000409480.1_Intron|GIGYF2_ENST00000409451.3_Intron|GIGYF2_ENST00000409547.1_Intron|KCNJ13_ENST00000410029.1_Silent_p.P252P|GIGYF2_ENST00000409196.3_Intron|GIGYF2_ENST00000452341.2_Intron|GIGYF2_ENST00000373563.4_Intron|AC064852.4_ENST00000427571.1_RNA	NM_002242.4	NP_002233.2	O60928	KCJ13_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 13	252					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)	integral component of membrane (GO:0016021)	inward rectifier potassium channel activity (GO:0005242)			endometrium(3)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	9		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0306)|Lung NSC(271;0.0908)		Epithelial(121;5.9e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0617)		GAGTAGCCAGAGGACTTGATG	0.443																																																0													129	118	122					2																	233633228		2203	4300	6503	SO:0001819	synonymous_variant	3769			AJ006128	CCDS2498.1, CCDS54437.1	2q37	2014-01-28			ENSG00000115474	ENSG00000115474		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6259	protein-coding gene	gene with protein product		603208				9878260, 9620703, 16382105	Standard	NM_002242		Approved	Kir7.1, Kir1.4, LCA16	uc002vtp.3	O60928	OTTHUMG00000153292	ENST00000233826.3:c.756T>A	chr2.hg19:g.233633228A>T			A0PGH1|O76023|Q53SA1|Q8N3Y4	Silent	SNP	ENST00000233826.3	hg19	CCDS2498.1																																																																																				0.443	KCNJ13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257036.1	NM_002242		T	233633228	A	T	233633228	2	4	762	1	0	0	0	0	0	0	0	1	8049	291	11	5		5	KCNJ13	2	233633228	Silent	SNP	A	TCGA-MH-A55Z-01A-11D-A26P-10	16348096	233633228	9566145	18	44899											
GIGYF2	26058	hgsc.bcm.edu	37	2	233659498	233659498	+	Silent	SNP	T	T	A			TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr2:233659498T>A	ENST00000409547.1	+	15	1634	c.1323T>A	c.(1321-1323)ccT>ccA	p.P441P	GIGYF2_ENST00000373566.3_Silent_p.P463P|GIGYF2_ENST00000409480.1_Silent_p.P463P|GIGYF2_ENST00000409451.3_Silent_p.P462P|GIGYF2_ENST00000409196.3_Silent_p.P435P|GIGYF2_ENST00000452341.2_Silent_p.P272P|GIGYF2_ENST00000373563.4_Silent_p.P441P	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	441	Pro-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)		CGCAGATTCCTTCAGATACAG	0.478																																																0													292	293	293					2																	233659498		2203	4300	6503	SO:0001819	synonymous_variant	26058			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.1323T>A	chr2.hg19:g.233659498T>A			A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Silent	SNP	ENST00000409547.1	hg19	CCDS33401.1																																																																																				0.478	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		A	233659498	T	A	233659498	2	1	762	1	0	0	0	0	0	0	0	1	6380	1596	56	5		5	GIGYF2	2	233659498	Silent	SNP	T	TCGA-MH-A55Z-01A-11D-A26P-10	26270	233659498	9539875	19	44900											
KIAA1407	57577	hgsc.bcm.edu	37	3	113697143	113697143	+	Missense_Mutation	SNP	A	A	C			TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr3:113697143A>C	ENST00000295878.3	-	16	2642	c.2496T>G	c.(2494-2496)ttT>ttG	p.F832L		NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	832										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						AATGTACACAAAATTTTCTTA	0.393																																																0													73	74	74					3																	113697143		2203	4300	6503	SO:0001583	missense	57577			AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.2496T>G	chr3.hg19:g.113697143A>C	ENSP00000295878:p.Phe832Leu		B4DYL1|Q9P2E0	Missense_Mutation	SNP	ENST00000295878.3	hg19	CCDS2977.1	.	.	.	.	.	.	.	.	.	.	A	7.654	0.683498	0.14907	.	.	ENSG00000163617	ENST00000295878	T	0.28666	1.6	4.46	-2.16	0.07080	.	0.462954	0.22456	N	0.059825	T	0.05135	0.0137	N	0.00413	-1.525	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38415	-0.9662	10	0.05620	T	0.96	.	5.5621	0.17150	0.256:0.3712:0.3728:0.0	.	832	Q8NCU4	K1407_HUMAN	L	832	ENSP00000295878:F832L	ENSP00000295878:F832L	F	-	3	2	KIAA1407	115179833	0.000000	0.05858	0.000000	0.03702	0.745000	0.42441	-1.005000	0.03674	-0.297000	0.08934	0.528000	0.53228	TTT		0.393	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	NM_020817		C	113697143	A	C	113697143	3	2	762	1	0	0	0	0	1	0	0	0	8231	11	1	5	322	5	KIAA1407	3	113697143	Missense_Mutation	SNP	A	TCGA-MH-A55Z-01A-11D-A26P-10		113697143	84325287	20	44901											
ABCC5	10057	hgsc.bcm.edu	37	3	183669307	183669307	+	Missense_Mutation	SNP	G	G	C			TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr3:183669307G>C	ENST00000334444.6	-	20	3106	c.2866C>G	c.(2866-2868)Ctt>Gtt	p.L956V	ABCC5_ENST00000265586.6_Missense_Mutation_p.L956V	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	956	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	GGGCTTCGAAGGATCCTTCGG	0.542																																																0													74	79	77					3																	183669307		2004	4191	6195	SO:0001583	missense	10057			AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"ATP binding cassette transporters / subfamily C"	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.2866C>G	chr3.hg19:g.183669307G>C	ENSP00000333926:p.Leu956Val		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	ENST00000334444.6	hg19	CCDS43176.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.299975	0.81136	.	.	ENSG00000114770	ENST00000334444;ENST00000265586	D;D	0.91843	-2.92;-2.92	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);	0.000000	0.85682	D	0.000000	D	0.92616	0.7654	M	0.74647	2.275	0.58432	D	0.999996	P;P	0.43024	0.771;0.798	P;B	0.44422	0.449;0.387	D	0.92434	0.5956	10	0.49607	T	0.09	-14.3754	15.2019	0.73147	0.067:0.0:0.933:0.0	.	956;956	Q86UX3;O15440	.;MRP5_HUMAN	V	956	ENSP00000333926:L956V;ENSP00000265586:L956V	ENSP00000265586:L956V	L	-	1	0	ABCC5	185152001	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	6.461000	0.73522	1.590000	0.49995	0.655000	0.94253	CTT		0.542	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		C	183669307	G	C	183669307	3	2	762	1	0	0	0	0	1	0	0	0	56	1000	35	4	1491	4	ABCC5	3	183669307	Missense_Mutation	SNP	G	TCGA-MH-A55Z-01A-11D-A26P-10	69972164	183669307	14353123	21	44902											
KIAA0226	9711	hgsc.bcm.edu	37	3	197408102	197408102	+	Silent	SNP	G	G	A			TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr3:197408102G>A	ENST00000296343.5	-	16	2327	c.2328C>T	c.(2326-2328)ttC>ttT	p.F776F	KIAA0226_ENST00000389665.5_Silent_p.F801F|KIAA0226_ENST00000273582.5_Silent_p.F731F	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	776					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)		GGTCCTTGGAGAAGTTGCTGA	0.522																																					Esophageal Squamous(3;167 355 3763 15924)											0													154	149	151					3																	197408102		2046	4228	6274	SO:0001819	synonymous_variant	9711			D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.2328C>T	chr3.hg19:g.197408102G>A			Q96CK5	Silent	SNP	ENST00000296343.5	hg19	CCDS43195.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.648|8.648	0.897483|0.897483	0.17686|0.17686	.|.	.|.	ENSG00000145016|ENSG00000145016	ENST00000413360|ENST00000415452	.|.	.|.	.|.	4.55|4.55	3.66|3.66	0.41972|0.41972	.|.	.|.	.|.	.|.	.|.	T|T	0.63046|0.63046	0.2478|0.2478	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.61667|0.61667	-0.7016|-0.7016	4|4	.|.	.|.	.|.	.|.	12.4295|12.4295	0.55565|0.55565	0.0825:0.0:0.9175:0.0|0.0825:0.0:0.9175:0.0	.|.	.|.	.|.	.|.	F|F	738|560	.|.	.|.	L|S	-|-	1|2	0|0	KIAA0226|KIAA0226	198892499|198892499	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.909000|0.909000	0.53808|0.53808	2.466000|2.466000	0.45084|0.45084	1.244000|1.244000	0.43870|0.43870	0.555000|0.555000	0.69702|0.69702	CTC|TCT		0.522	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1	XM_032901		A	197408102	G	A	197408102	2	1	762	1	0	0	0	0	0	0	0	1	8164	933	33	2		2	KIAA0226	3	197408102	Silent	SNP	G	TCGA-MH-A55Z-01A-11D-A26P-10	13738795	197408102	614328	22	44903											
GAK	2580	hgsc.bcm.edu	37	4	882734	882734	+	Missense_Mutation	SNP	T	T	A			TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr4:882734T>A	ENST00000314167.4	-	11	1216	c.1106A>T	c.(1105-1107)cAg>cTg	p.Q369L	GAK_ENST00000511163.1_Missense_Mutation_p.Q290L	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	369					cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GCCATACGGCTGGTCGTACTC	0.662																																																0													45	40	42					4																	882734		2200	4293	6493	SO:0001583	missense	2580			D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"Heat shock proteins / DNAJ (HSP40)"	4113	protein-coding gene	gene with protein product	"auxilin-2"	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.1106A>T	chr4.hg19:g.882734T>A	ENSP00000314499:p.Gln369Leu		Q5U4P5|Q9BVY6	Missense_Mutation	SNP	ENST00000314167.4	hg19	CCDS3340.1	.	.	.	.	.	.	.	.	.	.	T	16.66	3.185496	0.57909	.	.	ENSG00000178950	ENST00000314167;ENST00000511163	T;T	0.79352	-0.8;-1.26	4.55	4.55	0.56014	.	0.739757	0.13112	N	0.412872	T	0.80544	0.4643	M	0.76002	2.32	0.58432	D	0.999999	D;P;P;P	0.54772	0.968;0.883;0.944;0.937	P;P;B;B	0.48654	0.585;0.48;0.4;0.256	T	0.79271	-0.1872	10	0.45353	T	0.12	-33.1852	10.2933	0.43610	0.0:0.0:0.0:1.0	.	290;290;369;265	Q5U4P5;E9PGR2;O14976;Q59HA5	.;.;GAK_HUMAN;.	L	369;290	ENSP00000314499:Q369L;ENSP00000421361:Q290L	ENSP00000314499:Q369L	Q	-	2	0	GAK	872734	1.000000	0.71417	0.993000	0.49108	0.052000	0.14988	6.860000	0.75473	1.679000	0.50963	0.459000	0.35465	CAG		0.662	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255		A	882734	T	A	882734	3	1	762	1	0	0	0	0	1	0	0	0	6197	1580	55	5	2901	5	GAK	4	882734	Missense_Mutation	SNP	T	TCGA-MH-A55Z-01A-11D-A26P-10		882734	190271542	23	44904											
ADD1	118	hgsc.bcm.edu	37	4	2916729	2916729	+	Missense_Mutation	SNP	A	A	G			TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr4:2916729A>G	ENST00000398129.1	+	12	1744	c.1724A>G	c.(1723-1725)tAc>tGc	p.Y575C	ADD1_ENST00000513328.2_Missense_Mutation_p.Y575C|ADD1_ENST00000398125.1_Missense_Mutation_p.Y606C|ADD1_ENST00000355842.3_Missense_Mutation_p.Y606C|ADD1_ENST00000446856.1_Missense_Mutation_p.Y575C|ADD1_ENST00000264758.7_Missense_Mutation_p.Y606C|ADD1_ENST00000398123.2_Missense_Mutation_p.Y606C|ADD1_ENST00000503455.2_Missense_Mutation_p.Y606C			P35611	ADDA_HUMAN	adducin 1 (alpha)	575					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)		CTGGAGGAGTACCGCAGGGAG	0.587																																					Esophageal Squamous(71;505 1201 20414 34538 37449)											0													100	95	96					4																	2916729		2203	4300	6503	SO:0001583	missense	118			L07261	CCDS3363.1, CCDS3364.1, CCDS43205.1, CCDS75094.1	4p16.3	2009-04-22			ENSG00000087274	ENSG00000087274			243	protein-coding gene	gene with protein product		102680				1840603	Standard	NM_001119		Approved		uc003gfq.3	P35611	OTTHUMG00000122080	ENST00000398129.1:c.1724A>G	chr4.hg19:g.2916729A>G	ENSP00000381197:p.Tyr575Cys		A2A3N8|A2A3P0|B4DI79|D3DVR3|D3DVR4|D3DVR5|Q13734|Q14729|Q16156|Q86XM2|Q9UJB6	Missense_Mutation	SNP	ENST00000398129.1	hg19	CCDS43205.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	26.3|26.3	4.720674|4.720674	0.89205|0.89205	.|.	.|.	ENSG00000087274|ENSG00000087274	ENST00000514940;ENST00000541843|ENST00000264758;ENST00000446856;ENST00000398125;ENST00000513328;ENST00000503455;ENST00000355842;ENST00000398123;ENST00000398129	.|T;T;T;T;T;T;T;T	.|0.31247	.|1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.56775|0.56775	0.2008|0.2008	M|M	0.73430|0.73430	2.235|2.235	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|0.993;1.0;1.0;0.997;1.0	.|D;D;D;P;D	.|0.87578	.|0.928;0.977;0.998;0.863;0.992	T|T	0.61816|0.61816	-0.6985|-0.6985	5|10	.|0.87932	.|D	.|0	-15.9835|-15.9835	15.4885|15.4885	0.75587|0.75587	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|606;575;606;575;606	.|Q86XM2;P35611;P35611-3;P35611-2;A2A3N8	.|.;ADDA_HUMAN;.;.;.	A|C	312;21|606;575;606;575;606;606;606;575	.|ENSP00000264758:Y606C;ENSP00000399828:Y575C;ENSP00000381193:Y606C;ENSP00000421907:Y575C;ENSP00000423024:Y606C;ENSP00000348100:Y606C;ENSP00000381191:Y606C;ENSP00000381197:Y575C	.|ENSP00000264758:Y606C	T|Y	+|+	1|2	0|0	ADD1|ADD1	2886527|2886527	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	8.766000|8.766000	0.91728|0.91728	2.060000|2.060000	0.61445|0.61445	0.460000|0.460000	0.39030|0.39030	ACC|TAC		0.587	ADD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242840.1	NM_014189		G	2916729	A	G	2916729	3	3	762	1	0	0	0	0	1	0	0	0	304	391	14	3	1863	3	ADD1	4	2916729	Missense_Mutation	SNP	A	TCGA-MH-A55Z-01A-11D-A26P-10	2033995	2916729	188237547	24	44905											
SLC10A4	201780	hgsc.bcm.edu	37	4	48487158	48487158	+	Splice_Site	SNP	A	A	C			TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr4:48487158A>C	ENST00000273861.4	+	2	1019	c.800A>C	c.(799-801)aAg>aCg	p.K267T		NM_152679.3	NP_689892.1	Q96EP9	NTCP4_HUMAN	solute carrier family 10, member 4	267						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	6						TACATTGTGAAGGTAAGGCCC	0.522																																																0													73	72	72					4																	48487158		2203	4300	6503	SO:0001630	splice_region_variant	201780			BC012048	CCDS3482.1	4p12	2013-07-18	2013-07-18		ENSG00000145248	ENSG00000145248		"Solute carriers"	22980	protein-coding gene	gene with protein product							Standard	NM_152679		Approved	MGC29802	uc003gyc.2	Q96EP9	OTTHUMG00000102092	ENST00000273861.4:c.801+1A>C	chr4.hg19:g.48487158A>C			Q8WUZ2	Missense_Mutation	SNP	ENST00000273861.4	hg19	CCDS3482.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.242171	0.79912	.	.	ENSG00000145248	ENST00000273861	T	0.10763	2.84	5.03	5.03	0.67393	.	0.044192	0.85682	D	0.000000	T	0.19967	0.0480	L	0.56340	1.77	0.80722	D	1	P	0.51537	0.946	P	0.51550	0.673	T	0.00480	-1.1714	10	0.44086	T	0.13	-29.9309	15.2283	0.73367	1.0:0.0:0.0:0.0	.	267	Q96EP9	NTCP4_HUMAN	T	267	ENSP00000273861:K267T	ENSP00000273861:K267T	K	+	2	0	SLC10A4	48181915	1.000000	0.71417	1.000000	0.80357	0.468000	0.32798	8.506000	0.90518	2.237000	0.73441	0.460000	0.39030	AAG		0.522	SLC10A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219926.3	NM_152679	Missense_Mutation	C	48487158	A	C	48487158	5	2	762	1	0	0	0	0	0	0	1	0	14382	86	3	5	806	5	SLC10A4	4	48487158	Splice_Site	SNP	A	TCGA-MH-A55Z-01A-11D-A26P-10	45570429	48487158	142667118	25	44906											
KIAA1211	57482	hgsc.bcm.edu	37	4	57182735	57182735	+	Missense_Mutation	SNP	G	G	A			TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr4:57182735G>A	ENST00000504228.1	+	6	3172	c.3067G>A	c.(3067-3069)Gaa>Aaa	p.E1023K	KIAA1211_ENST00000264229.6_Missense_Mutation_p.E1023K|KIAA1211_ENST00000541073.1_Missense_Mutation_p.E1016K			Q6ZU35	K1211_HUMAN	KIAA1211	1023										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)					AGGCCCCGAGGAAAGGAAGGG	0.647																																																0													16	19	18					4																	57182735		1988	4152	6140	SO:0001583	missense	57482			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.3067G>A	chr4.hg19:g.57182735G>A	ENSP00000423366:p.Glu1023Lys		Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	hg19	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.437122	0.43224	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073	T;T;T	0.78003	-1.14;-1.14;-1.14	5.24	3.44	0.39384	.	.	.	.	.	T	0.67970	0.2950	L	0.44542	1.39	0.09310	N	1	B;B;B	0.28350	0.208;0.084;0.084	B;B;B	0.21917	0.022;0.037;0.037	T	0.58301	-0.7660	9	0.44086	T	0.13	-11.2684	8.9225	0.35621	0.2382:0.0:0.7618:0.0	.	1016;1016;1023	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	K	1023;1023;1016	ENSP00000264229:E1023K;ENSP00000423366:E1023K;ENSP00000444006:E1016K	ENSP00000264229:E1023K	E	+	1	0	KIAA1211	56877492	0.169000	0.23002	0.190000	0.23270	0.164000	0.22412	2.380000	0.44327	1.140000	0.42260	0.561000	0.74099	GAA		0.647	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		A	57182735	G	A	57182735	3	1	762	1	0	0	0	0	1	0	0	0	8217	1175	41	2	3085	2	KIAA1211	4	57182735	Missense_Mutation	SNP	G	TCGA-MH-A55Z-01A-11D-A26P-10	8695577	57182735	133971541	26	44907											
C4orf17	84103	hgsc.bcm.edu	37	4	100434294	100434294	+	Missense_Mutation	SNP	T	T	C			TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr4:100434294T>C	ENST00000326581.4	+	2	418	c.56T>C	c.(55-57)aTt>aCt	p.I19T	C4orf17_ENST00000514652.1_Missense_Mutation_p.I19T	NM_032149.2	NP_115525.2	Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	19										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)		GGCAGCCATATTATGGCTAGA	0.468																																																0													102	86	92					4																	100434294		2203	4300	6503	SO:0001583	missense	84103			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	ENST00000326581.4:c.56T>C	chr4.hg19:g.100434294T>C	ENSP00000322582:p.Ile19Thr		Q6FI84|Q6IS77|Q8NA78|Q9H0D9	Missense_Mutation	SNP	ENST00000326581.4	hg19	CCDS3649.1	.	.	.	.	.	.	.	.	.	.	T	10.04	1.242808	0.22796	.	.	ENSG00000138813	ENST00000326581;ENST00000514652	T;T	0.18338	2.22;2.22	4.76	-9.53	0.00575	.	1.807420	0.02601	N	0.101018	T	0.15089	0.0364	L	0.57536	1.79	0.09310	N	1	B	0.24426	0.103	B	0.25140	0.058	T	0.39354	-0.9618	10	0.66056	D	0.02	1.4304	5.5029	0.16838	0.1118:0.1614:0.5637:0.1631	.	19	Q53FE4	CD017_HUMAN	T	19	ENSP00000322582:I19T;ENSP00000427663:I19T	ENSP00000322582:I19T	I	+	2	0	C4orf17	100653317	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.503000	0.06383	-1.204000	0.02648	-0.256000	0.11100	ATT		0.468	C4orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253670.2	NM_032149		C	100434294	T	C	100434294	3	2	762	1	0	0	0	0	1	0	0	0	2254	1493	52	3	58	3	C4orf17	4	100434294	Missense_Mutation	SNP	T	TCGA-MH-A55Z-01A-11D-A26P-10	43251559	100434294	90719982	27	44908											
TBCK	93627	hgsc.bcm.edu	37	4	107163709	107163709	+	Frame_Shift_Del	DEL	C	C	-	rs371959745		TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr4:107163709delC	ENST00000273980.5	-	13	1535	c.1088delG	c.(1087-1089)ggtfs	p.G363fs	TBCK_ENST00000432496.2_Frame_Shift_Del_p.G363fs|TBCK_ENST00000394708.2_Frame_Shift_Del_p.G363fs|TBCK_ENST00000361687.4_Frame_Shift_Del_p.G300fs|TBCK_ENST00000394706.3_Frame_Shift_Del_p.G324fs					TBC1 domain containing kinase											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						AAAGCTTTCACCATCCTCAAA	0.313																																																0													67	65	66					4																	107163709		2203	4300	6503	SO:0001589	frameshift_variant	93627				CCDS3673.1, CCDS54788.1, CCDS54789.1	4q24	2014-09-17			ENSG00000145348	ENSG00000145348			28261	protein-coding gene	gene with protein product						12471243	Standard	XR_427553		Approved	MGC16169, HSPC302	uc010ilv.2	Q8TEA7	OTTHUMG00000131214	ENST00000273980.5:c.1088delG	chr4.hg19:g.107163709delC	ENSP00000273980:p.Gly363fs			Frame_Shift_Del	DEL	ENST00000273980.5	hg19	CCDS54788.1																																																																																				0.313	TBCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253953.4	NM_033115		-	107163709	C	-	107163709	7	5	762	1	0	1	0	1	0	0	0	0	15641	507	18	0	1653	0	TBCK	4	107163709	Frame_Shift_Del	DEL	C	TCGA-MH-A55Z-01A-11D-A26P-10	6729415	107163709	83990567	28	44909											
SH3D19	152503	hgsc.bcm.edu	37	4	152096316	152096316	+	Missense_Mutation	SNP	T	T	A			TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr4:152096316T>A	ENST00000409252.2	-	6	907	c.200A>T	c.(199-201)gAg>gTg	p.E67V	SH3D19_ENST00000455740.1_Missense_Mutation_p.E67V|SH3D19_ENST00000427414.2_Missense_Mutation_p.E67V|SH3D19_ENST00000514152.1_Missense_Mutation_p.E67V|SH3D19_ENST00000409598.4_Missense_Mutation_p.E67V|SH3D19_ENST00000304527.4_Missense_Mutation_p.E67V|SH3D19_ENST00000424281.1_Missense_Mutation_p.E67V|SH3D19_ENST00000604030.1_5'Flank			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	67					cytoskeleton organization (GO:0007010)|membrane organization (GO:0061024)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of cell morphogenesis (GO:0022604)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				AGAGTCCCACTCTCCAGAAGC	0.517																																																0													85	85	85					4																	152096316		2203	4300	6503	SO:0001583	missense	152503			BX647422	CCDS34077.2, CCDS47143.1, CCDS47144.1	4q31.3	2009-03-05	2009-03-05	2009-03-05	ENSG00000109686	ENSG00000109686			30418	protein-coding gene	gene with protein product	"EEN binding protein"	608674				12477932	Standard	NM_001009555		Approved	DKFZp434D0215, EVE1, EBP, Kryn, SH3P19	uc010ipl.1	Q5HYK7	OTTHUMG00000154051	ENST00000409252.2:c.200A>T	chr4.hg19:g.152096316T>A	ENSP00000386848:p.Glu67Val		B7Z296|Q08EK1|Q32N10|Q5U3B8|Q86XB3|Q8N5E7|Q9UFC8	Missense_Mutation	SNP	ENST00000409252.2	hg19	CCDS34077.2	.	.	.	.	.	.	.	.	.	.	T	21.3	4.134175	0.77662	.	.	ENSG00000109686	ENST00000409598;ENST00000304527;ENST00000455740;ENST00000424281;ENST00000427414;ENST00000409252;ENST00000514152	T;T;T;T;T;T;T	0.06449	3.3;3.3;3.3;3.3;3.3;3.3;3.3	6.07	3.59	0.41128	.	2.410060	0.02778	U	0.120587	T	0.23451	0.0567	M	0.62723	1.935	0.38335	D	0.943906	D;D;D	0.63046	0.969;0.982;0.992	P;P;P	0.61397	0.625;0.849;0.888	T	0.00024	-1.2325	10	0.87932	D	0	-8.5478	10.825	0.46627	0.0:0.1277:0.0:0.8723	.	67;67;67	Q5HYK7;Q5HYK7-2;Q5HYK7-3	SH319_HUMAN;.;.	V	67	ENSP00000387030:E67V;ENSP00000302913:E67V;ENSP00000416708:E67V;ENSP00000404542:E67V;ENSP00000415694:E67V;ENSP00000386848:E67V;ENSP00000423449:E67V	ENSP00000302913:E67V	E	-	2	0	SH3D19	152315766	0.997000	0.39634	0.976000	0.42696	0.954000	0.61252	2.976000	0.49289	0.514000	0.28300	0.533000	0.62120	GAG		0.517	SH3D19-002	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335132.3	NM_001009555		A	152096316	T	A	152096316	3	1	762	1	0	0	0	0	1	0	0	0	14255	1551	54	5	2232	5	SH3D19	4	152096316	Missense_Mutation	SNP	T	TCGA-MH-A55Z-01A-11D-A26P-10	44932607	152096316	39057960	29	44910	476	3									
SH3D19	152503	hgsc.bcm.edu	37	4	152096322	152096322	+	Missense_Mutation	SNP	G	G	A			TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr4:152096322G>A	ENST00000409252.2	-	6	901	c.194C>T	c.(193-195)tCt>tTt	p.S65F	SH3D19_ENST00000455740.1_Missense_Mutation_p.S65F|SH3D19_ENST00000427414.2_Missense_Mutation_p.S65F|SH3D19_ENST00000514152.1_Missense_Mutation_p.S65F|SH3D19_ENST00000409598.4_Missense_Mutation_p.S65F|SH3D19_ENST00000304527.4_Missense_Mutation_p.S65F|SH3D19_ENST00000424281.1_Missense_Mutation_p.S65F|SH3D19_ENST00000604030.1_5'Flank			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	65					cytoskeleton organization (GO:0007010)|membrane organization (GO:0061024)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of cell morphogenesis (GO:0022604)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				CCACTCTCCAGAAGCTCTGTT	0.527																																																0													85	85	85					4																	152096322		2203	4300	6503	SO:0001583	missense	152503			BX647422	CCDS34077.2, CCDS47143.1, CCDS47144.1	4q31.3	2009-03-05	2009-03-05	2009-03-05	ENSG00000109686	ENSG00000109686			30418	protein-coding gene	gene with protein product	"EEN binding protein"	608674				12477932	Standard	NM_001009555		Approved	DKFZp434D0215, EVE1, EBP, Kryn, SH3P19	uc010ipl.1	Q5HYK7	OTTHUMG00000154051	ENST00000409252.2:c.194C>T	chr4.hg19:g.152096322G>A	ENSP00000386848:p.Ser65Phe		B7Z296|Q08EK1|Q32N10|Q5U3B8|Q86XB3|Q8N5E7|Q9UFC8	Missense_Mutation	SNP	ENST00000409252.2	hg19	CCDS34077.2	.	.	.	.	.	.	.	.	.	.	G	19.49	3.838322	0.71373	.	.	ENSG00000109686	ENST00000409598;ENST00000304527;ENST00000455740;ENST00000424281;ENST00000427414;ENST00000409252;ENST00000514152	T;T;T;T;T;T;T	0.06068	3.35;3.35;3.35;3.35;3.35;3.35;3.35	6.07	4.34	0.51931	.	0.591075	0.16731	N	0.201834	T	0.21674	0.0522	M	0.64997	1.995	0.35608	D	0.808417	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.08534	-1.0717	10	0.87932	D	0	-5.1533	12.0719	0.53622	0.0648:0.1217:0.8135:0.0	.	65;65;65	Q5HYK7;Q5HYK7-2;Q5HYK7-3	SH319_HUMAN;.;.	F	65	ENSP00000387030:S65F;ENSP00000302913:S65F;ENSP00000416708:S65F;ENSP00000404542:S65F;ENSP00000415694:S65F;ENSP00000386848:S65F;ENSP00000423449:S65F	ENSP00000302913:S65F	S	-	2	0	SH3D19	152315772	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	5.083000	0.64456	0.883000	0.36040	0.655000	0.94253	TCT		0.527	SH3D19-002	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335132.3	NM_001009555		A	152096322	G	A	152096322	3	1	762	1	0	0	0	0	1	0	0	0	14255	942	33	2	2238	2	SH3D19	4	152096322	Missense_Mutation	SNP	G	TCGA-MH-A55Z-01A-11D-A26P-10	6	152096322	39057954	30	44911	476	3									
SH3D19	152503	hgsc.bcm.edu	37	4	152096326	152096326	+	Frame_Shift_Del	DEL	C	C	-			TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr4:152096326delC	ENST00000409252.2	-	6	897	c.190delG	c.(190-192)gctfs	p.A64fs	SH3D19_ENST00000455740.1_Frame_Shift_Del_p.A64fs|SH3D19_ENST00000427414.2_Frame_Shift_Del_p.A64fs|SH3D19_ENST00000514152.1_Frame_Shift_Del_p.A64fs|SH3D19_ENST00000409598.4_Frame_Shift_Del_p.A64fs|SH3D19_ENST00000304527.4_Frame_Shift_Del_p.A64fs|SH3D19_ENST00000424281.1_Frame_Shift_Del_p.A64fs|SH3D19_ENST00000604030.1_5'Flank			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	64					cytoskeleton organization (GO:0007010)|membrane organization (GO:0061024)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of cell morphogenesis (GO:0022604)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				TCTCCAGAAGCTCTGTTAGCA	0.532																																																0													86	86	86					4																	152096326		2203	4300	6503	SO:0001589	frameshift_variant	152503			BX647422	CCDS34077.2, CCDS47143.1, CCDS47144.1	4q31.3	2009-03-05	2009-03-05	2009-03-05	ENSG00000109686	ENSG00000109686			30418	protein-coding gene	gene with protein product	"EEN binding protein"	608674				12477932	Standard	NM_001009555		Approved	DKFZp434D0215, EVE1, EBP, Kryn, SH3P19	uc010ipl.1	Q5HYK7	OTTHUMG00000154051	ENST00000409252.2:c.190delG	chr4.hg19:g.152096326delC	ENSP00000386848:p.Ala64fs		B7Z296|Q08EK1|Q32N10|Q5U3B8|Q86XB3|Q8N5E7|Q9UFC8	Frame_Shift_Del	DEL	ENST00000409252.2	hg19	CCDS34077.2																																																																																				0.532	SH3D19-002	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335132.3	NM_001009555		-	152096326	C	-	152096326	7	5	762	1	0	1	0	1	0	0	0	0	14255	797	28	0	2242	0	SH3D19	4	152096326	Frame_Shift_Del	DEL	C	TCGA-MH-A55Z-01A-11D-A26P-10	4	152096326	39057950	31	44912	476	3									
FSTL5	56884	hgsc.bcm.edu	37	4	162307106	162307106	+	Silent	SNP	T	T	A			TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr4:162307106T>A	ENST00000306100.5	-	16	2773	c.2337A>T	c.(2335-2337)atA>atT	p.I779I	FSTL5_ENST00000379164.4_Silent_p.I778I|FSTL5_ENST00000536695.1_Silent_p.I778I|RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000427802.2_Silent_p.I769I	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	779						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)		TGAGACTCTTTATCATCTTGA	0.458																																																0													179	163	168					4																	162307106		2203	4300	6503	SO:0001819	synonymous_variant	56884			BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"EF-hand domain containing", "Immunoglobulin superfamily / I-set domain containing"	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.2337A>T	chr4.hg19:g.162307106T>A			E9PCP6|Q9NSW7|Q9ULF7	Silent	SNP	ENST00000306100.5	hg19	CCDS3802.1																																																																																				0.458	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		A	162307106	T	A	162307106	2	1	762	1	0	0	0	0	0	0	0	1	6082	1744	61	5		5	FSTL5	4	162307106	Silent	SNP	T	TCGA-MH-A55Z-01A-11D-A26P-10	10210780	162307106	28847170	32	44913											
WDR17	116966	hgsc.bcm.edu	37	4	177089815	177089815	+	Missense_Mutation	SNP	G	G	C	rs371828424		TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr4:177089815G>C	ENST00000280190.4	+	25	3256	c.3100G>C	c.(3100-3102)Gtt>Ctt	p.V1034L	WDR17_ENST00000393643.2_Missense_Mutation_p.V1010L|WDR17_ENST00000508596.1_Intron|WDR17_ENST00000507824.2_Intron			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	1034										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)		CTTTTGTTACGTTAACAGGAA	0.338																																																0													134	127	129					4																	177089815		2203	4300	6503	SO:0001583	missense	116966			AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"WD repeat domain containing"	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.3100G>C	chr4.hg19:g.177089815G>C	ENSP00000280190:p.Val1034Leu		E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	hg19	CCDS3825.1	.	.	.	.	.	.	.	.	.	.	g	1.369	-0.586595	0.03827	.	.	ENSG00000150627	ENST00000393643;ENST00000280190;ENST00000507824	T;T	0.54866	0.61;0.55	5.1	-2.02	0.07388	.	0.528184	0.15689	N	0.249514	T	0.20292	0.0488	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27773	-1.0064	10	0.02654	T	1	0.4761	4.7601	0.13104	0.4883:0.0:0.3534:0.1582	.	1034	Q8IZU2	WDR17_HUMAN	L	1010;1034;1010	ENSP00000377258:V1010L;ENSP00000280190:V1034L	ENSP00000280190:V1034L	V	+	1	0	WDR17	177326809	0.081000	0.21417	0.000000	0.03702	0.003000	0.03518	-0.019000	0.12546	-0.243000	0.09653	-1.290000	0.01357	GTT		0.338	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			C	177089815	G	C	177089815	3	2	762	1	0	0	0	0	1	0	0	0	17282	1145	40	4	3194	4	WDR17	4	177089815	Missense_Mutation	SNP	G	TCGA-MH-A55Z-01A-11D-A26P-10	14782709	177089815	14064461	33	44914											
TNPO1	3842	hgsc.bcm.edu	37	5	72183032	72183032	+	Nonsense_Mutation	SNP	T	T	G			TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr5:72183032T>G	ENST00000337273.5	+	12	1712	c.1286T>G	c.(1285-1287)tTa>tGa	p.L429*	TNPO1_ENST00000523768.1_Nonsense_Mutation_p.L379*|TNPO1_ENST00000506351.2_Nonsense_Mutation_p.L421*|TNPO1_ENST00000454282.1_Nonsense_Mutation_p.L379*	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	429					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|protein import into nucleus, translocation (GO:0000060)|RNA metabolic process (GO:0016070)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		ATTTTGGTTTTAGGAGCAATT	0.358																																																0													99	97	98					5																	72183032		2203	4300	6503	SO:0001587	stop_gained	3842			U70322	CCDS4016.1, CCDS43329.1	5q13.1	2009-01-12	2004-01-29	2004-01-30	ENSG00000083312	ENSG00000083312		"Importins"	6401	protein-coding gene	gene with protein product	"importin 2"	602901	"karyopherin (importin) beta 2"	KPNB2		8808633, 9144189	Standard	NM_153188		Approved	MIP, TRN, IPO2, MIP1	uc003kci.4	Q92973	OTTHUMG00000100967	ENST00000337273.5:c.1286T>G	chr5.hg19:g.72183032T>G	ENSP00000336712:p.Leu429*		B4DVC6|Q92957|Q92975	Nonsense_Mutation	SNP	ENST00000337273.5	hg19	CCDS43329.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.770905	0.90108	.	.	ENSG00000083312	ENST00000337273;ENST00000454282;ENST00000523768;ENST00000506351	.	.	.	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.9103	15.3454	0.74334	0.0:0.0:0.0:1.0	.	.	.	.	X	429;379;379;421	.	ENSP00000336712:L429X	L	+	2	0	TNPO1	72218788	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	7.651000	0.83577	2.099000	0.63709	0.528000	0.53228	TTA		0.358	TNPO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000218577.3	NM_002270		G	72183032	T	G	72183032	4	3	762	1	0	0	0	0	0	1	0	0	16340	1764	61	5	1332	5	TNPO1	5	72183032	Nonsense_Mutation	SNP	T	TCGA-MH-A55Z-01A-11D-A26P-10		72183032	108732228	34	44915											
SLC23A1	9963	hgsc.bcm.edu	37	5	138718252	138718252	+	Missense_Mutation	SNP	G	G	A			TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr5:138718252G>A	ENST00000348729.3	-	2	125	c.79C>T	c.(79-81)Cct>Tct	p.P27S	SLC23A1_ENST00000503919.1_5'UTR|SLC23A1_ENST00000353963.3_Missense_Mutation_p.P27S	NM_005847.4	NP_005838	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 1	27					brain development (GO:0007420)|dehydroascorbic acid transport (GO:0070837)|L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|lung development (GO:0030324)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|brush border (GO:0005903)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular organelle (GO:0043229)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dehydroascorbic acid transporter activity (GO:0033300)|L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium ion transmembrane transporter activity (GO:0015081)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	TCAAACTTAGGCTCTGTGGGT	0.582																																																0													134	111	118					5																	138718252		2203	4300	6503	SO:0001583	missense	9963			AF058317	CCDS4212.1, CCDS4213.1	5q31.2	2013-07-18	2013-07-18	2003-03-21	ENSG00000170482	ENSG00000170482		"Solute carriers"	10974	protein-coding gene	gene with protein product		603790	"solute carrier family 23 (nucleobase transporters), member 2"	SLC23A2		9804989, 10331392	Standard	NM_005847		Approved	YSPL3, SVCT1	uc003leg.3	Q9UHI7	OTTHUMG00000129228	ENST00000348729.3:c.79C>T	chr5.hg19:g.138718252G>A	ENSP00000302701:p.Pro27Ser		O95191|Q8WWB6|Q9UGH4|Q9UI39	Missense_Mutation	SNP	ENST00000348729.3	hg19	CCDS4212.1	.	.	.	.	.	.	.	.	.	.	G	10.65	1.410755	0.25465	.	.	ENSG00000170482	ENST00000353963;ENST00000348729;ENST00000339881;ENST00000453898;ENST00000508270	T;T	0.17370	2.28;2.29	4.68	2.9	0.33743	.	0.428794	0.24659	N	0.036652	T	0.08670	0.0215	N	0.08118	0	0.31262	N	0.692759	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.06552	-1.0820	10	0.87932	D	0	-27.6722	8.6703	0.34145	0.1818:0.0:0.8182:0.0	.	27;27	Q9UHI7;Q9UHI7-2	S23A1_HUMAN;.	S	27;27;27;27;101	ENSP00000302851:P27S;ENSP00000302701:P27S	ENSP00000343584:P27S	P	-	1	0	SLC23A1	138746151	0.993000	0.37304	0.987000	0.45799	0.446000	0.32137	1.322000	0.33689	0.600000	0.29862	0.456000	0.33151	CCT		0.582	SLC23A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374185.1	NM_152685		A	138718252	G	A	138718252	3	1	762	1	0	0	0	0	1	0	0	0	14468	1203	42	2	1781	2	SLC23A1	5	138718252	Missense_Mutation	SNP	G	TCGA-MH-A55Z-01A-11D-A26P-10	66535220	138718252	42197008	35	44916											
FAT2	2196	hgsc.bcm.edu	37	5	150911353	150911353	+	Silent	SNP	G	G	A			TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr5:150911353G>A	ENST00000261800.5	-	13	9618	c.9606C>T	c.(9604-9606)ggC>ggT	p.G3202G		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3202	Cadherin 28. {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)			CTGTGACGGTGCCCAGCGTGG	0.672																																																0													101	89	93					5																	150911353		2203	4300	6503	SO:0001819	synonymous_variant	2196			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.9606C>T	chr5.hg19:g.150911353G>A			O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	hg19	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	5.409	0.260626	0.10239	.	.	ENSG00000086570	ENST00000520200	.	.	.	5.34	3.55	0.40652	.	.	.	.	.	T	0.55673	0.1935	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49133	-0.8971	4	.	.	.	.	6.8949	0.24251	0.1533:0.1441:0.7025:0.0	.	.	.	.	Y	61	.	.	H	-	1	0	FAT2	150891546	1.000000	0.71417	1.000000	0.80357	0.436000	0.31835	2.210000	0.42816	0.630000	0.30394	0.557000	0.71058	CAC		0.672	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		A	150911353	G	A	150911353	2	1	762	1	0	0	0	0	0	0	0	1	5692	1306	46	2		2	FAT2	5	150911353	Silent	SNP	G	TCGA-MH-A55Z-01A-11D-A26P-10	12193101	150911353	30003907	36	44917											
LCP2	3937	hgsc.bcm.edu	37	5	169680134	169680134	+	Missense_Mutation	SNP	C	C	T			TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr5:169680134C>T	ENST00000046794.5	-	18	1849	c.1234G>A	c.(1234-1236)Gcg>Acg	p.A412T	LCP2_ENST00000521416.1_Missense_Mutation_p.A207T	NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	412					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)		TCTTCCTCCGCGGGGGATGGG	0.458																																																0													36	34	35					5																	169680134		1815	4077	5892	SO:0001583	missense	3937				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.1234G>A	chr5.hg19:g.169680134C>T	ENSP00000046794:p.Ala412Thr		A8KA25|Q53XV4	Missense_Mutation	SNP	ENST00000046794.5	hg19	CCDS47339.1	.	.	.	.	.	.	.	.	.	.	C	10.23	1.293873	0.23564	.	.	ENSG00000043462	ENST00000046794;ENST00000521416	D;D	0.92805	-3.11;-3.11	5.74	3.01	0.34805	.	0.541975	0.19974	N	0.101934	T	0.75481	0.3855	N	0.02539	-0.55	0.09310	N	1	B;B	0.18610	0.029;0.001	B;B	0.08055	0.003;0.001	T	0.62835	-0.6770	9	.	.	.	-3.3438	5.838	0.18617	0.154:0.685:0.0:0.1611	.	207;412	E7ESF6;Q13094	.;LCP2_HUMAN	T	412;207	ENSP00000046794:A412T;ENSP00000428871:A207T	.	A	-	1	0	LCP2	169612712	0.001000	0.12720	0.002000	0.10522	0.112000	0.19704	0.873000	0.28052	0.445000	0.26639	0.563000	0.77884	GCG		0.458	LCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371727.1	NM_005565		T	169680134	C	T	169680134	3	4	762	1	0	0	0	0	1	0	0	0	8694	768	27	1	383	1	LCP2	5	169680134	Missense_Mutation	SNP	C	TCGA-MH-A55Z-01A-11D-A26P-10	18768781	169680134	11235126	37	44918											
CANX	821	hgsc.bcm.edu	37	5	179136997	179136997	+	Frame_Shift_Del	DEL	C	C	-			TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr5:179136997delC	ENST00000247461.4	+	7	852	c.652delC	c.(652-654)catfs	p.H218fs	CANX_ENST00000512607.2_Frame_Shift_Del_p.H110fs|CANX_ENST00000415618.2_Frame_Shift_Del_p.H253fs|CANX_ENST00000452673.2_Frame_Shift_Del_p.H218fs|CANX_ENST00000504734.1_Frame_Shift_Del_p.H218fs|CANX_ENST00000503126.1_3'UTR	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	calnexin	218					aging (GO:0007568)|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)|chaperone-mediated protein folding (GO:0061077)|clathrin-mediated endocytosis (GO:0072583)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein secretion (GO:0009306)|synaptic vesicle endocytosis (GO:0048488)	axon (GO:0030424)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ribosome (GO:0005840)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Antihemophilic Factor(DB00025)|Tenecteplase(DB00031)	TGAAGAAAAACATGCTAAGAG	0.373																																																0													132	135	134					5																	179136997		2203	4300	6503	SO:0001589	frameshift_variant	821			L18887	CCDS4447.1	5q35	2008-07-18			ENSG00000127022	ENSG00000127022			1473	protein-coding gene	gene with protein product	"major histocompatibility complex class I antigen-binding protein p88"	114217				1326756, 8136357	Standard	NM_001746		Approved	CNX, IP90, P90	uc003mkl.3	P27824	OTTHUMG00000130910	ENST00000247461.4:c.652delC	chr5.hg19:g.179136997delC	ENSP00000247461:p.His218fs		B2R5V8|B4DGP8|B4E2T8|D3DWQ3|D6R9K3	Frame_Shift_Del	DEL	ENST00000247461.4	hg19	CCDS4447.1																																																																																				0.373	CANX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253500.2	NM_001024649		-	179136997	C	-	179136997	7	5	762	1	0	1	0	1	0	0	0	0	2620	478	17	0	674	0	CANX	5	179136997	Frame_Shift_Del	DEL	C	TCGA-MH-A55Z-01A-11D-A26P-10	9456863	179136997	1778263	38	44919											
ZSCAN12	9753	hgsc.bcm.edu	37	6	28359289	28359289	+	Missense_Mutation	SNP	C	C	G			TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr6:28359289C>G	ENST00000361028.1	-	4	923	c.778G>C	c.(778-780)Gac>Cac	p.D260H	ZSCAN12_ENST00000396827.3_Missense_Mutation_p.D260H			O43309	ZSC12_HUMAN	zinc finger and SCAN domain containing 12	260					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)|urinary_tract(1)	6						TCAGTATGGTCAGAGTTCTCA	0.433																																																0													219	181	192					6																	28359289		692	1591	2283	SO:0001583	missense	9753			AB007886		6p21	2013-01-08	2007-02-20	2007-02-20	ENSG00000158691	ENSG00000158691		"-", "Zinc fingers, C2H2-type"	13172	protein-coding gene	gene with protein product		603978	"zinc finger protein 305", "zinc finger protein 96"	ZNF305, ZNF96		9244436	Standard	NM_001163391		Approved	KIAA0426, ZNF29K1, ZFP96, dJ29K1.2	uc011dlh.2	O43309	OTTHUMG00000014522	ENST00000361028.1:c.778G>C	chr6.hg19:g.28359289C>G	ENSP00000354305:p.Asp260His		O43724	Missense_Mutation	SNP	ENST00000361028.1	hg19		.	.	.	.	.	.	.	.	.	.	C	3.906	-0.021133	0.07634	.	.	ENSG00000158691	ENST00000361028;ENST00000396827	T;T	0.27557	1.66;1.66	3.93	-0.342	0.12635	.	0.768215	0.10643	N	0.650758	T	0.02342	0.0072	N	0.02539	-0.55	0.09310	N	1	P;B	0.47302	0.893;0.38	B;B	0.34301	0.179;0.054	T	0.24548	-1.0157	10	0.22706	T	0.39	.	4.3597	0.11196	0.1506:0.4779:0.0:0.3715	.	260;260	A8K187;O43309	.;ZSC12_HUMAN	H	260	ENSP00000354305:D260H;ENSP00000380039:D260H	ENSP00000354305:D260H	D	-	1	0	ZSCAN12	28467268	0.000000	0.05858	0.000000	0.03702	0.383000	0.30230	-1.601000	0.02081	0.004000	0.14682	0.650000	0.86243	GAC		0.433	ZSCAN12-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040190.1	NM_014724		G	28359289	C	G	28359289	3	3	762	1	0	0	0	0	1	0	0	0	18233	826	29	4	1061	4	ZSCAN12	6	28359289	Missense_Mutation	SNP	C	TCGA-MH-A55Z-01A-11D-A26P-10		28359289	142755778	39	44920											
C6orf211	79624	hgsc.bcm.edu	37	6	151790234	151790234	+	Missense_Mutation	SNP	G	G	A			TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr6:151790234G>A	ENST00000367294.3	+	5	1574	c.1315G>A	c.(1315-1317)Ggt>Agt	p.G439S	C6orf211_ENST00000545879.1_Missense_Mutation_p.G320S	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	chromosome 6 open reading frame 211	439										breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		TCAGTACGATGGTCCCCTTTG	0.507																																																0													21	22	22					6																	151790234		1959	4161	6120	SO:0001583	missense	79624			AJ420548	CCDS5233.1, CCDS69224.1	6q25.1	2013-01-07			ENSG00000146476	ENSG00000146476			17872	protein-coding gene	gene with protein product							Standard	NM_001286562		Approved	FLJ12910	uc003qok.1	Q9H993	OTTHUMG00000015838	ENST00000367294.3:c.1315G>A	chr6.hg19:g.151790234G>A	ENSP00000356263:p.Gly439Ser		Q96FC6|Q9UFY5	Missense_Mutation	SNP	ENST00000367294.3	hg19	CCDS5233.1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.730830	0.30684	.	.	ENSG00000146476	ENST00000367294;ENST00000545879	T;T	0.13089	3.04;2.62	6.16	5.3	0.74995	.	0.212744	0.47852	D	0.000212	T	0.05181	0.0138	L	0.45352	1.415	0.41042	D	0.985231	B	0.22983	0.078	B	0.20184	0.028	T	0.18777	-1.0326	10	0.15499	T	0.54	.	13.6292	0.62186	0.0707:0.0:0.9293:0.0	.	439	Q9H993	CF211_HUMAN	S	439;320	ENSP00000356263:G439S;ENSP00000444121:G320S	ENSP00000356263:G439S	G	+	1	0	C6orf211	151831927	0.998000	0.40836	0.986000	0.45419	0.154000	0.21943	2.502000	0.45398	1.626000	0.50381	0.650000	0.86243	GGT		0.507	C6orf211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042724.1	NM_024573		A	151790234	G	A	151790234	3	1	762	1	0	0	0	0	1	0	0	0	2356	1348	47	2	1333	2	C6orf211	6	151790234	Missense_Mutation	SNP	G	TCGA-MH-A55Z-01A-11D-A26P-10	123430945	151790234	19324833	40	44921											
EIF2AK1	27102	hgsc.bcm.edu	37	7	6078295	6078296	+	Frame_Shift_Ins	INS	-	-	A	rs150001751		TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr7:6078295_6078296insA	ENST00000199389.6	-	10	1272_1273	c.1126_1127insT	c.(1126-1128)tacfs	p.Y376fs	EIF2AK1_ENST00000536084.1_Frame_Shift_Ins_p.Y252fs|EIF2AK1_ENST00000495565.1_5'Flank	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	376	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of cell proliferation (GO:0008285)|negative regulation of hemoglobin biosynthetic process (GO:0046986)|negative regulation of translational initiation by iron (GO:0045993)|protein autophosphorylation (GO:0046777)|protoporphyrinogen IX metabolic process (GO:0046501)|regulation of eIF2 alpha phosphorylation by heme (GO:0010999)|response to external stimulus (GO:0009605)|response to stress (GO:0006950)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		CATCAGGTGGTACTGTGCCTAG	0.505																																																0																																										SO:0001589	frameshift_variant	27102			BC006524	CCDS5345.1	7p22	2005-01-20			ENSG00000086232	ENSG00000086232			24921	protein-coding gene	gene with protein product	"heme regulated initiation factor 2 alpha kinase"	613635				7709427, 10718198	Standard	NM_014413		Approved	HRI, KIAA1369	uc003spp.3	Q9BQI3	OTTHUMG00000090689	ENST00000199389.6:c.1127dupT	chr7.hg19:g.6078296_6078296dupA	ENSP00000199389:p.Tyr376fs		A8K2R2|Q549K6|Q8NBW3|Q9HC02|Q9NYE0|Q9P0V6|Q9P1J5|Q9P2H8|Q9UHG4	Frame_Shift_Ins	INS	ENST00000199389.6	hg19	CCDS5345.1																																																																																				0.505	EIF2AK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207373.2	NM_014413		A	6078296	-	A	6078295	7	5	762	1	0	1	1	0	0	0	0	0	4998	1638	57	0	789	0	EIF2AK1	7	6078295	Frame_Shift_Ins	INS	-	TCGA-MH-A55Z-01A-11D-A26P-10		6078295	153060368	41	44922	477	3									
EIF2AK1	27102	hgsc.bcm.edu	37	7	6078297	6078297	+	Missense_Mutation	SNP	C	C	G			TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr7:6078297C>G	ENST00000199389.6	-	10	1271	c.1125G>C	c.(1123-1125)caG>caC	p.Q375H	EIF2AK1_ENST00000536084.1_Missense_Mutation_p.Q251H|EIF2AK1_ENST00000495565.1_5'Flank	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	375	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of cell proliferation (GO:0008285)|negative regulation of hemoglobin biosynthetic process (GO:0046986)|negative regulation of translational initiation by iron (GO:0045993)|protein autophosphorylation (GO:0046777)|protoporphyrinogen IX metabolic process (GO:0046501)|regulation of eIF2 alpha phosphorylation by heme (GO:0010999)|response to external stimulus (GO:0009605)|response to stress (GO:0006950)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		TCAGGTGGTACTGTGCCTAGG	0.507																																																0													108	94	99					7																	6078297		2203	4300	6503	SO:0001583	missense	27102			BC006524	CCDS5345.1	7p22	2005-01-20			ENSG00000086232	ENSG00000086232			24921	protein-coding gene	gene with protein product	"heme regulated initiation factor 2 alpha kinase"	613635				7709427, 10718198	Standard	NM_014413		Approved	HRI, KIAA1369	uc003spp.3	Q9BQI3	OTTHUMG00000090689	ENST00000199389.6:c.1125G>C	chr7.hg19:g.6078297C>G	ENSP00000199389:p.Gln375His		A8K2R2|Q549K6|Q8NBW3|Q9HC02|Q9NYE0|Q9P0V6|Q9P1J5|Q9P2H8|Q9UHG4	Missense_Mutation	SNP	ENST00000199389.6	hg19	CCDS5345.1	.	.	.	.	.	.	.	.	.	.	.	9.811	1.183288	0.21870	.	.	ENSG00000086232	ENST00000199389;ENST00000536084;ENST00000426957	T;T	0.65549	-0.16;-0.16	5.57	2.56	0.30785	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.521490	0.21777	N	0.069272	T	0.53334	0.1790	M	0.64630	1.985	0.31933	N	0.61189	B;B;B	0.20368	0.044;0.007;0.005	B;B;B	0.22386	0.039;0.009;0.01	T	0.56062	-0.8041	10	0.37606	T	0.19	-7.4865	5.5568	0.17121	0.1395:0.6391:0.0:0.2214	.	251;374;375	B4DIP4;Q9BQI3-2;Q9BQI3	.;.;E2AK1_HUMAN	H	375;251;2	ENSP00000199389:Q375H;ENSP00000445784:Q251H	ENSP00000199389:Q375H	Q	-	3	2	EIF2AK1	6044823	1.000000	0.71417	0.996000	0.52242	0.286000	0.27126	0.647000	0.24812	1.341000	0.45600	0.650000	0.86243	CAG		0.507	EIF2AK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207373.2	NM_014413		G	6078297	C	G	6078297	3	3	762	1	0	0	0	0	1	0	0	0	4998	564	20	4	791	4	EIF2AK1	7	6078297	Missense_Mutation	SNP	C	TCGA-MH-A55Z-01A-11D-A26P-10	2	6078297	153060366	42	44923	477	3									
EIF2AK1	27102	hgsc.bcm.edu	37	7	6078298	6078299	+	Frame_Shift_Ins	INS	-	-	A	rs372398524		TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr7:6078298_6078299insA	ENST00000199389.6	-	10	1269_1270	c.1123_1124insT	c.(1123-1125)cagfs	p.Q375fs	EIF2AK1_ENST00000536084.1_Frame_Shift_Ins_p.Q251fs|EIF2AK1_ENST00000495565.1_5'Flank	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	375	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of cell proliferation (GO:0008285)|negative regulation of hemoglobin biosynthetic process (GO:0046986)|negative regulation of translational initiation by iron (GO:0045993)|protein autophosphorylation (GO:0046777)|protoporphyrinogen IX metabolic process (GO:0046501)|regulation of eIF2 alpha phosphorylation by heme (GO:0010999)|response to external stimulus (GO:0009605)|response to stress (GO:0006950)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		CAGGTGGTACTGTGCCTAGGAG	0.51																																																0																																										SO:0001589	frameshift_variant	27102			BC006524	CCDS5345.1	7p22	2005-01-20			ENSG00000086232	ENSG00000086232			24921	protein-coding gene	gene with protein product	"heme regulated initiation factor 2 alpha kinase"	613635				7709427, 10718198	Standard	NM_014413		Approved	HRI, KIAA1369	uc003spp.3	Q9BQI3	OTTHUMG00000090689	ENST00000199389.6:c.1123_1124insT	chr7.hg19:g.6078298_6078299insA	ENSP00000199389:p.Gln375fs		A8K2R2|Q549K6|Q8NBW3|Q9HC02|Q9NYE0|Q9P0V6|Q9P1J5|Q9P2H8|Q9UHG4	Frame_Shift_Ins	INS	ENST00000199389.6	hg19	CCDS5345.1																																																																																				0.51	EIF2AK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207373.2	NM_014413		A	6078299	-	A	6078298	7	5	762	1	0	1	1	0	0	0	0	0	4998	1580	55	0	792	0	EIF2AK1	7	6078298	Frame_Shift_Ins	INS	-	TCGA-MH-A55Z-01A-11D-A26P-10	1	6078298	153060365	43	44924	477	3									
NFE2L3	9603	hgsc.bcm.edu	37	7	26224635	26224636	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr7:26224635_26224636delCT	ENST00000056233.3	+	4	1576_1577	c.1317_1318delCT	c.(1315-1320)cactctfs	p.S440fs		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	440					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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						ATTCCTCTCACTCTGTGTGTGA	0.421																																																0																																										SO:0001589	frameshift_variant	9603			AB010812	CCDS5396.1	7p15.2	2013-08-23	2013-08-23		ENSG00000050344	ENSG00000050344		"basic leucine zipper proteins"	7783	protein-coding gene	gene with protein product		604135	"nuclear factor (erythroid-derived 2)-like 3"			10037736	Standard	NM_004289		Approved	Nrf3	uc003sxq.3	Q9Y4A8	OTTHUMG00000023882	ENST00000056233.3:c.1317_1318delCT	chr7.hg19:g.26224637_26224638delCT	ENSP00000056233:p.Ser440fs		Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Frame_Shift_Del	DEL	ENST00000056233.3	hg19	CCDS5396.1																																																																																				0.421	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214088.1			-	26224636	CT	-	26224635	7	5	762	1	0	1	0	1	0	0	0	0	10371	564	20	0	1331	0	NFE2L3	7	26224635	Frame_Shift_Del	DEL	CT	TCGA-MH-A55Z-01A-11D-A26P-10	20146337	26224635	132914028	44	44925											
PLEKHA8	84725	hgsc.bcm.edu	37	7	30094389	30094389	+	Silent	SNP	T	T	C			TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr7:30094389T>C	ENST00000449726.1	+	8	1211	c.861T>C	c.(859-861)acT>acC	p.T287T	PLEKHA8_ENST00000396259.1_Silent_p.T287T|PLEKHA8_ENST00000396257.2_Silent_p.T287T|PLEKHA8_ENST00000258679.7_Silent_p.T287T	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	287				T -> S (in Ref. 1; AAK55424). {ECO:0000305}.	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						ATAACTTGACTCAGTCTGGAT	0.383																																																0													149	143	145					7																	30094389		2203	4300	6503	SO:0001819	synonymous_variant	84725			BC053990	CCDS5424.1, CCDS56473.1, CCDS75574.1	7p21-p11.2	2013-01-10			ENSG00000106086	ENSG00000106086		"Pleckstrin homology (PH) domain containing"	30037	protein-coding gene	gene with protein product		608639				11001876	Standard	NM_001197027		Approved	FAPP2, MGC3358	uc003taq.3	Q96JA3	OTTHUMG00000097751	ENST00000449726.1:c.861T>C	chr7.hg19:g.30094389T>C			B4DH00|Q7Z5V8|Q9BU78|Q9H274|Q9H8Z7	Silent	SNP	ENST00000449726.1	hg19	CCDS56473.1																																																																																				0.383	PLEKHA8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032639		C	30094389	T	C	30094389	2	2	762	1	0	0	0	0	0	0	0	1	12064	1538	54	3		3	PLEKHA8	7	30094389	Silent	SNP	T	TCGA-MH-A55Z-01A-11D-A26P-10	3869754	30094389	129044274	45	44926											
POLM	27434	hgsc.bcm.edu	37	7	44114102	44114102	+	Missense_Mutation	SNP	G	G	A			TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr7:44114102G>A	ENST00000242248.5	-	7	964	c.863C>T	c.(862-864)aCc>aTc	p.T288I	POLM_ENST00000492971.1_5'UTR|POLM_ENST00000395831.3_Silent_p.H242H|POLM_ENST00000335195.6_Silent_p.H285H	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	288					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						CAGGACTGGGGTGCTCAGGTC	0.697								DNA polymerases (catalytic subunits)																																								0													21	19	20					7																	44114102		2201	4299	6500	SO:0001583	missense	27434			AF176097	CCDS34625.1, CCDS64635.1, CCDS64636.1	7p13	2012-05-18			ENSG00000122678	ENSG00000122678		"DNA polymerases"	9185	protein-coding gene	gene with protein product	"Pol iota"	606344				10982892	Standard	XM_005249708		Approved	Tdt-N	uc003tjt.3	Q9NP87	OTTHUMG00000155353	ENST00000242248.5:c.863C>T	chr7.hg19:g.44114102G>A	ENSP00000242248:p.Thr288Ile		D3DVK4|Q6P5X8|Q86WQ9	Missense_Mutation	SNP	ENST00000242248.5	hg19	CCDS34625.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.122221	0.37436	.	.	ENSG00000122678	ENST00000242248	T	0.44083	0.93	5.38	1.23	0.21249	DNA-directed DNA polymerase X (1);DNA polymerase lambda, fingers domain (1);	.	.	.	.	T	0.42471	0.1204	M	0.68317	2.08	0.80722	D	1	P	0.40211	0.707	B	0.42959	0.403	T	0.33803	-0.9854	9	0.56958	D	0.05	-0.2386	8.6696	0.34143	0.0841:0.4398:0.4761:0.0	.	288	Q9NP87	DPOLM_HUMAN	I	288	ENSP00000242248:T288I	ENSP00000242248:T288I	T	-	2	0	POLM	44080627	0.013000	0.17824	0.506000	0.27664	0.637000	0.38172	0.038000	0.13862	0.231000	0.21079	0.555000	0.69702	ACC		0.697	POLM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339594.1	NM_013284		A	44114102	G	A	44114102	3	1	762	1	0	0	0	0	1	0	0	0	12208	1261	44	2	641	2	POLM	7	44114102	Missense_Mutation	SNP	G	TCGA-MH-A55Z-01A-11D-A26P-10	14019713	44114102	115024561	46	44927											
OGDH	4967	hgsc.bcm.edu	37	7	44735721	44735721	+	Missense_Mutation	SNP	G	G	T			TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr7:44735721G>T	ENST00000222673.5	+	13	1808	c.1766G>T	c.(1765-1767)tGg>tTg	p.W589L	OGDH_ENST00000444676.1_Missense_Mutation_p.W604L|OGDH_ENST00000449767.1_Missense_Mutation_p.W585L|OGDH_ENST00000439616.2_Missense_Mutation_p.W439L|OGDH_ENST00000447398.1_Missense_Mutation_p.W600L|OGDH_ENST00000543843.1_Missense_Mutation_p.W540L	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	589					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)	GACTCTCCCTGGCCTGGTGAG	0.438																																																0													71	67	68					7																	44735721		2203	4300	6503	SO:0001583	missense	4967			D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.1766G>T	chr7.hg19:g.44735721G>T	ENSP00000222673:p.Trp589Leu		B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Missense_Mutation	SNP	ENST00000222673.5	hg19	CCDS34627.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.713754	0.89112	.	.	ENSG00000105953	ENST00000439616;ENST00000449767;ENST00000447398;ENST00000444676;ENST00000222673;ENST00000543843	T;T;T;T;T;T	0.06608	3.33;3.28;3.29;3.29;3.29;3.3	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.36303	0.0962	M	0.94021	3.485	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	T	0.51132	-0.8744	10	0.87932	D	0	-15.9477	17.8672	0.88799	0.0:0.0:1.0:0.0	.	384;439;585;600;491;589	B4E3E9;E9PFG7;E9PBM1;E9PDF2;A2VCT2;Q02218	.;.;.;.;.;ODO1_HUMAN	L	439;585;600;604;589;540	ENSP00000398576:W439L;ENSP00000392878:W585L;ENSP00000388183:W600L;ENSP00000414662:W604L;ENSP00000222673:W589L;ENSP00000443821:W540L	ENSP00000222673:W589L	W	+	2	0	OGDH	44702246	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	9.657000	0.98554	2.556000	0.86216	0.655000	0.94253	TGG		0.438	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			T	44735721	G	T	44735721	3	4	762	1	0	0	0	0	1	0	0	0	10841	1357	47	4	1985	4	OGDH	7	44735721	Missense_Mutation	SNP	G	TCGA-MH-A55Z-01A-11D-A26P-10	621619	44735721	114402942	47	44928	478	2									
OGDH	4967	hgsc.bcm.edu	37	7	44735723	44735723	+	Missense_Mutation	SNP	C	C	A			TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr7:44735723C>A	ENST00000222673.5	+	13	1810	c.1768C>A	c.(1768-1770)Cct>Act	p.P590T	OGDH_ENST00000444676.1_Missense_Mutation_p.P605T|OGDH_ENST00000449767.1_Missense_Mutation_p.P586T|OGDH_ENST00000439616.2_Missense_Mutation_p.P440T|OGDH_ENST00000447398.1_Missense_Mutation_p.P601T|OGDH_ENST00000543843.1_Missense_Mutation_p.P541T	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	590					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)	CTCTCCCTGGCCTGGTGAGTG	0.438																																																0													69	65	67					7																	44735723		2203	4300	6503	SO:0001583	missense	4967			D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.1768C>A	chr7.hg19:g.44735723C>A	ENSP00000222673:p.Pro590Thr		B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Missense_Mutation	SNP	ENST00000222673.5	hg19	CCDS34627.1	.	.	.	.	.	.	.	.	.	.	C	12.81	2.050408	0.36181	.	.	ENSG00000105953	ENST00000439616;ENST00000449767;ENST00000447398;ENST00000444676;ENST00000222673;ENST00000543843	T;T;T;T;T;T	0.05199	3.49;3.48;3.48;3.48;3.48;3.49	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.06554	0.0168	L	0.31294	0.92	0.80722	D	1	B;B;B;B;B;B	0.17268	0.007;0.007;0.01;0.01;0.001;0.021	B;B;B;B;B;B	0.16289	0.004;0.004;0.015;0.015;0.002;0.009	T	0.40194	-0.9576	10	0.19590	T	0.45	-15.3111	17.8673	0.88799	0.0:1.0:0.0:0.0	.	385;440;586;601;492;590	B4E3E9;E9PFG7;E9PBM1;E9PDF2;A2VCT2;Q02218	.;.;.;.;.;ODO1_HUMAN	T	440;586;601;605;590;541	ENSP00000398576:P440T;ENSP00000392878:P586T;ENSP00000388183:P601T;ENSP00000414662:P605T;ENSP00000222673:P590T;ENSP00000443821:P541T	ENSP00000222673:P590T	P	+	1	0	OGDH	44702248	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	7.651000	0.83577	2.556000	0.86216	0.655000	0.94253	CCT		0.438	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			A	44735723	C	A	44735723	3	1	762	1	0	0	0	0	1	0	0	0	10841	739	26	4	1987	4	OGDH	7	44735723	Missense_Mutation	SNP	C	TCGA-MH-A55Z-01A-11D-A26P-10	2	44735723	114402940	48	44929	478	2									
CSPP1	10565	hgsc.bcm.edu	37	8	68107797	68107797	+	IGR	SNP	C	C	T			TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr8:68107797C>T	ENST00000262215.3	-	0	7225				CSPP1_ENST00000262210.5_Missense_Mutation_p.T1212I|ARFGEF1_ENST00000520381.1_Intron|ARFGEF1_ENST00000517955.1_5'Flank|CSPP1_ENST00000412460.1_Missense_Mutation_p.T867I	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)						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)			GGCACTTTCACTTGGCAGGGC	0.493																																																0													50	51	51					8																	68107797		1953	4158	6111	SO:0001628	intergenic_variant	79848			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		chr8.hg19:g.68107797C>T			Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	hg19	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	C	6.942	0.543635	0.13250	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	T;T;T	0.32272	1.46;1.48;1.48	5.51	-0.424	0.12321	.	0.554792	0.18305	N	0.145291	T	0.21550	0.0519	L	0.44542	1.39	0.09310	N	1	B;P;P	0.41569	0.256;0.755;0.755	B;B;B	0.35470	0.176;0.203;0.203	T	0.10177	-1.0641	10	0.66056	D	0.02	-1.672	10.1481	0.42776	0.2208:0.5604:0.2188:0.0	.	867;1212;1247	Q1MSJ5-2;Q1MSJ5-1;Q1MSJ5	.;.;CSPP1_HUMAN	I	1212;1247;867;867	ENSP00000262210:T1212I;ENSP00000415782:T867I;ENSP00000430092:T867I	ENSP00000262210:T1212I	T	+	2	0	CSPP1	68270351	0.000000	0.05858	0.008000	0.14137	0.141000	0.21300	0.200000	0.17257	-0.223000	0.09943	-0.181000	0.13052	ACT		0.493	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		T	68107797	C	T	68107797	1	4	762	0	1	0	0	0	0	0	0	0	3964	565	20	2		2	CSPP1	8	68107797	IGR	SNP	C	TCGA-MH-A55Z-01A-11D-A26P-10		68107797	78256225	49	44930											
PUF60	22827	hgsc.bcm.edu	37	8	144902839	144902839	+	Silent	SNP	T	T	C			TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr8:144902839T>C	ENST00000526683.1	-	5	900	c.345A>G	c.(343-345)caA>caG	p.Q115Q	PUF60_ENST00000524570.1_5'UTR|PUF60_ENST00000313352.7_Intron|PUF60_ENST00000453551.2_Silent_p.Q72Q|PUF60_ENST00000527197.1_Intron|PUF60_ENST00000349157.6_Intron|PUF60_ENST00000456095.2_Silent_p.Q86Q	NM_001271098.1|NM_078480.2	NP_001258027.1|NP_510965.1	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa	115	Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.				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)			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)			TATTGACCGATTGCAAAGGTG	0.562																																																0													199	208	205					8																	144902839		2085	4208	6293	SO:0001819	synonymous_variant	22827			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.345A>G	chr8.hg19:g.144902839T>C			A8K8K8|Q969E7|Q96D94|Q96H63|Q99628|Q9NZA0|Q9UJY7	Silent	SNP	ENST00000526683.1	hg19	CCDS47934.1	.	.	.	.	.	.	.	.	.	.	T	9.393	1.076050	0.20227	.	.	ENSG00000179950	ENST00000527744	.	.	.	5.28	4.14	0.48551	.	.	.	.	.	T	0.59972	0.2233	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55927	-0.8063	4	.	.	.	.	9.9314	0.41525	0.0:0.0798:0.0:0.9202	.	.	.	.	S	113	.	.	N	-	2	0	PUF60	144974827	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.482000	0.60257	0.868000	0.35678	0.533000	0.62120	AAT		0.562	PUF60-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382222.1	NM_014281		C	144902839	T	C	144902839	2	2	762	1	0	0	0	0	0	0	0	1	12830	1490	52	3		3	PUF60	8	144902839	Silent	SNP	T	TCGA-MH-A55Z-01A-11D-A26P-10	76795042	144902839	1461183	50	44931											
VLDLR	7436	hgsc.bcm.edu	37	9	2643309	2643310	+	In_Frame_Ins	INS	-	-	GCA			TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr9:2643309_2643310insGCA	ENST00000382100.3	+	5	954_955	c.598_599insGCA	c.(598-600)tgc>tGCAgc	p.201_202insS	RP11-125B21.2_ENST00000599229.1_RNA|VLDLR_ENST00000382099.2_In_Frame_Ins_p.201_202insS	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	201	LDL-receptor class A 5. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cholesterol metabolic process (GO:0008203)|glycoprotein transport (GO:0034436)|lipid transport (GO:0006869)|memory (GO:0007613)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|positive regulation of dendrite development (GO:1900006)|positive regulation of protein kinase activity (GO:0045860)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|signal transduction (GO:0007165)|ventral spinal cord development (GO:0021517)|very-low-density lipoprotein particle clearance (GO:0034447)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|glycoprotein binding (GO:0001948)|glycoprotein transporter activity (GO:0034437)|low-density lipoprotein receptor activity (GO:0005041)|reelin receptor activity (GO:0038025)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		TGAGTTCCAGTGCAGCACCTCC	0.589																																																0																																										SO:0001652	inframe_insertion	7436				CCDS6446.1, CCDS34979.1	9p24	2014-01-24			ENSG00000147852	ENSG00000147852		"Low density lipoprotein receptors"	12698	protein-coding gene	gene with protein product		192977				8294473	Standard	XM_006716864		Approved	CARMQ1, CHRMQ1, VLDLRCH	uc003zhk.1	P98155	OTTHUMG00000019447	ENST00000382100.3:c.602_604dupGCA	chr9.hg19:g.2643313_2643315dupGCA	ENSP00000371532:p.Ser203_Ser204dup		B2RMZ7|D3DRH6|Q5VVF6	In_Frame_Ins	INS	ENST00000382100.3	hg19	CCDS6446.1																																																																																				0.589	VLDLR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051519.2	NM_003383		GCA	2643310	-	GCA	2643309	7	5	762	1	0	1	1	0	0	0	0	0	17179	1696	59	0	616	0	VLDLR	9	2643309	In_Frame_Ins	INS	-	TCGA-MH-A55Z-01A-11D-A26P-10		2643309	138570122	51	44932											
ZNF438	220929	hgsc.bcm.edu	37	10	31134006	31134006	+	Missense_Mutation	SNP	G	G	A			TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr10:31134006G>A	ENST00000361310.3	-	7	2700	c.2371C>T	c.(2371-2373)Ctc>Ttc	p.L791F	ZNF438_ENST00000331737.6_Missense_Mutation_p.L781F|ZNF438_ENST00000444692.2_Missense_Mutation_p.L781F|ZNF438_ENST00000538351.2_Missense_Mutation_p.L742F|ZNF438_ENST00000375311.1_Missense_Mutation_p.L355F|ZNF438_ENST00000436087.2_Missense_Mutation_p.L791F|ZNF438_ENST00000452305.1_Missense_Mutation_p.L781F|ZNF438_ENST00000413025.1_Missense_Mutation_p.L791F|ZNF438_ENST00000442986.1_Missense_Mutation_p.L791F			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	791					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)				TGGTGGAGGAGGTCCTCTTTC	0.537																																																0													188	181	184					10																	31134006		2203	4300	6503	SO:0001583	missense	220929			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.2371C>T	chr10.hg19:g.31134006G>A	ENSP00000354663:p.Leu791Phe		A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Missense_Mutation	SNP	ENST00000361310.3	hg19	CCDS7168.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.766477	0.90020	.	.	ENSG00000183621	ENST00000331737;ENST00000361310;ENST00000436087;ENST00000442986;ENST00000413025;ENST00000452305;ENST00000444692;ENST00000538351;ENST00000430896;ENST00000375311	T;T;T;T;T;T;T;T;T	0.17854	2.25;2.25;2.25;2.25;2.25;2.25;2.25;2.25;2.29	5.5	3.62	0.41486	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.115961	0.64402	D	0.000014	T	0.37293	0.0998	M	0.68593	2.085	0.36439	D	0.865386	D;D	0.89917	1.0;1.0	D;D	0.77557	0.976;0.99	T	0.44498	-0.9324	10	0.87932	D	0	-20.022	11.0268	0.47748	0.0708:0.1293:0.7998:0.0	.	791;781	Q7Z4V0;Q7Z4V0-2	ZN438_HUMAN;.	F	781;791;791;791;791;781;781;742;510;355	ENSP00000333571:L781F;ENSP00000354663:L791F;ENSP00000406934:L791F;ENSP00000412363:L791F;ENSP00000387546:L791F;ENSP00000413060:L781F;ENSP00000410898:L781F;ENSP00000445461:L742F;ENSP00000364460:L355F	ENSP00000333571:L781F	L	-	1	0	ZNF438	31174012	1.000000	0.71417	0.008000	0.14137	0.846000	0.48090	3.398000	0.52579	0.770000	0.33336	0.655000	0.94253	CTC		0.537	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277006.1	NM_182755		A	31134006	G	A	31134006	3	1	762	1	0	0	0	0	1	0	0	0	17915	1000	35	2	119	2	ZNF438	10	31134006	Missense_Mutation	SNP	G	TCGA-MH-A55Z-01A-11D-A26P-10		31134006	104400741	52	44933											
ZNF33B	7582	hgsc.bcm.edu	37	10	43088357	43088357	+	Missense_Mutation	SNP	T	T	C			TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr10:43088357T>C	ENST00000359467.3	-	5	2155	c.2041A>G	c.(2041-2043)Att>Gtt	p.I681V	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	681					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						TCATGTAAAATAAGTCCTGAC	0.403																																					Melanoma(137;1247 1767 16772 25727 43810)											0													123	121	122					10																	43088357		2203	4300	6503	SO:0001583	missense	7582			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.2041A>G	chr10.hg19:g.43088357T>C	ENSP00000352444:p.Ile681Val		Q06731|Q32MA2|Q86XY8|Q8NDW3	Missense_Mutation	SNP	ENST00000359467.3	hg19	CCDS7198.1	.	.	.	.	.	.	.	.	.	.	T	4.006	-0.001564	0.07819	.	.	ENSG00000196693	ENST00000359467;ENST00000395836	T	0.35605	1.3	2.54	0.118	0.14667	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.852537	0.09554	N	0.786508	T	0.12902	0.0313	N	0.02842	-0.48	0.19300	N	0.999972	B	0.09022	0.002	B	0.09377	0.004	T	0.23404	-1.0189	10	0.30854	T	0.27	.	2.2255	0.03983	0.2309:0.2698:0.0:0.4993	.	681	Q06732	ZN33B_HUMAN	V	681;647	ENSP00000352444:I681V	ENSP00000352444:I681V	I	-	1	0	ZNF33B	42408363	0.000000	0.05858	0.917000	0.36280	0.797000	0.45037	-1.573000	0.02134	0.016000	0.14998	0.336000	0.21669	ATT		0.403	ZNF33B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_006955		C	43088357	T	C	43088357	3	2	762	1	0	0	0	0	1	0	0	0	17860	1406	49	3	299	3	ZNF33B	10	43088357	Missense_Mutation	SNP	T	TCGA-MH-A55Z-01A-11D-A26P-10	11954351	43088357	92446390	53	44934											
AFAP1L2	84632	hgsc.bcm.edu	37	10	116100456	116100456	+	Silent	SNP	G	G	A			TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr10:116100456G>A	ENST00000304129.4	-	2	80	c.51C>T	c.(49-51)ttC>ttT	p.F17F	AFAP1L2_ENST00000369271.3_Silent_p.F17F|AFAP1L2_ENST00000545353.1_Silent_p.F17F			Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	17					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)		GAATCTTGAGGAAGTCATCCA	0.537																																																0													87	85	86					10																	116100456		2203	4300	6503	SO:0001819	synonymous_variant	84632			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.51C>T	chr10.hg19:g.116100456G>A			A8K6P7|B3KVQ8|Q2UZW3|Q8TB54|Q96PX4|Q96SY5	Silent	SNP	ENST00000304129.4	hg19	CCDS31286.1																																																																																				0.537	AFAP1L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050462.1	NM_032550		A	116100456	G	A	116100456	2	1	762	1	0	0	0	0	0	0	0	1	355	1165	41	2		2	AFAP1L2	10	116100456	Silent	SNP	G	TCGA-MH-A55Z-01A-11D-A26P-10	73012099	116100456	19434291	54	44935											
MKI67	4288	hgsc.bcm.edu	37	10	129902143	129902143	+	Frame_Shift_Del	DEL	G	G	-			TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr10:129902143delG	ENST00000368654.3	-	13	8336	c.7961delC	c.(7960-7962)ccafs	p.P2654fs	MKI67_ENST00000368653.3_Frame_Shift_Del_p.P2294fs	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2654	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)				TACTGGGTTTGGTTTCTTCTT	0.522																																																0													171	175	174					10																	129902143		2203	4300	6503	SO:0001589	frameshift_variant	4288			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.7961delC	chr10.hg19:g.129902143delG	ENSP00000357643:p.Pro2654fs		Q5VWH2	Frame_Shift_Del	DEL	ENST00000368654.3	hg19	CCDS7659.1																																																																																				0.522	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		-	129902143	G	-	129902143	7	5	762	1	0	1	0	1	0	0	0	0	9600	1348	47	0	1821	0	MKI67	10	129902143	Frame_Shift_Del	DEL	G	TCGA-MH-A55Z-01A-11D-A26P-10	13801687	129902143	5632604	55	44936											
OR51G2	81282	hgsc.bcm.edu	37	11	4936503	4936503	+	Missense_Mutation	SNP	T	T	C			TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr11:4936503T>C	ENST00000322013.3	-	1	419	c.391A>G	c.(391-393)Atc>Gtc	p.I131V	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	131						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)		GGGTGGCAGATAGCCACAAAG	0.493																																																0													81	80	80					11																	4936503		2201	4298	6499	SO:0001583	missense	81282			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.391A>G	chr11.hg19:g.4936503T>C	ENSP00000322593:p.Ile131Val		Q6IFH7	Missense_Mutation	SNP	ENST00000322013.3	hg19	CCDS31365.1	.	.	.	.	.	.	.	.	.	.	T	16.52	3.145321	0.57044	.	.	ENSG00000176893	ENST00000322013	T	0.50813	0.73	5.58	5.58	0.84498	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000099	T	0.55097	0.1899	M	0.86573	2.825	0.44719	D	0.997717	B	0.29301	0.241	B	0.25987	0.065	T	0.60835	-0.7184	10	0.66056	D	0.02	.	14.7227	0.69320	0.0:0.0:0.0:1.0	.	131	Q8NGK0	O51G2_HUMAN	V	131	ENSP00000322593:I131V	ENSP00000322593:I131V	I	-	1	0	OR51G2	4893079	1.000000	0.71417	0.999000	0.59377	0.952000	0.60782	7.646000	0.83445	2.343000	0.79666	0.533000	0.62120	ATC		0.493	OR51G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142174.1	NM_001005238		C	4936503	T	C	4936503	3	2	762	1	0	0	0	0	1	0	0	0	11101	1406	49	3	557	3	OR51G2	11	4936503	Missense_Mutation	SNP	T	TCGA-MH-A55Z-01A-11D-A26P-10		4936503	130070013	56	44937											
BDNF	627	hgsc.bcm.edu	37	11	27680049	27680056	+	Frame_Shift_Del	DEL	CATGGGGG	CATGGGGG	-			TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	CATGGGGG	CATGGGGG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr11:27680049_27680056delCATGGGGG	ENST00000525528.1	-	1	1149_1156	c.56_63delCCCCCATG	c.(55-63)gcccccatgfs	p.APM19fs	BDNF-AS_ENST00000499568.2_RNA|BDNF_ENST00000314915.6_Frame_Shift_Del_p.APM27fs|BDNF_ENST00000395983.3_Frame_Shift_Del_p.APM19fs|BDNF_ENST00000525950.1_Frame_Shift_Del_p.APM19fs|BDNF_ENST00000533131.1_Frame_Shift_Del_p.APM19fs|BDNF-AS_ENST00000502161.2_RNA|BDNF_ENST00000438929.1_Frame_Shift_Del_p.APM101fs|BDNF_ENST00000395980.2_Frame_Shift_Del_p.APM19fs|BDNF_ENST00000533246.1_Frame_Shift_Del_p.APM19fs|BDNF_ENST00000418212.1_Frame_Shift_Del_p.APM19fs|BDNF_ENST00000395986.2_Frame_Shift_Del_p.APM34fs|BDNF-AS_ENST00000530686.1_RNA|BDNF_ENST00000530861.1_Frame_Shift_Del_p.APM19fs|BDNF-AS_ENST00000499008.3_RNA|BDNF_ENST00000356660.4_Frame_Shift_Del_p.APM19fs|BDNF-AS_ENST00000500662.2_RNA|BDNF_ENST00000439476.2_Frame_Shift_Del_p.APM19fs|BDNF-AS_ENST00000501176.2_RNA|BDNF_ENST00000532997.1_Frame_Shift_Del_p.APM19fs|BDNF_ENST00000584049.1_5'UTR|BDNF_ENST00000395981.3_Frame_Shift_Del_p.APM19fs|BDNF-AS_ENST00000532965.1_RNA|BDNF-AS_ENST00000530313.1_RNA|BDNF_ENST00000420794.1_Frame_Shift_Del_p.APM19fs|BDNF_ENST00000395978.3_Frame_Shift_Del_p.APM19fs	NM_170735.5	NP_733931.1	P23560	BDNF_HUMAN	brain-derived neurotrophic factor	19					axon extension (GO:0048675)|axon guidance (GO:0007411)|axon target recognition (GO:0007412)|behavioral fear response (GO:0001662)|chronic inflammatory response (GO:0002544)|circadian rhythm (GO:0007623)|dendrite development (GO:0016358)|dendrite extension (GO:0097484)|feeding behavior (GO:0007631)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glutamate secretion (GO:0014047)|inner ear development (GO:0048839)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|nerve development (GO:0021675)|nervous system development (GO:0007399)|neuron recognition (GO:0008038)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of synapse assembly (GO:0051965)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of retinal cell programmed cell death (GO:0046668)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|response to anesthetic (GO:0072347)|response to fluoxetine (GO:0014076)|response to hormone (GO:0009725)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to vitamin A (GO:0033189)|taste bud development (GO:0061193)|ureteric bud development (GO:0001657)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	growth factor activity (GO:0008083)			breast(1)|large_intestine(3)|lung(2)	6						TTGCTTCTTTCATGGGGGCAGCCTTCAT	0.514																																																0																																										SO:0001589	frameshift_variant	627			AB038670	CCDS7865.1, CCDS7866.1, CCDS44558.1, CCDS41628.1	11p14.1	2014-01-30			ENSG00000176697	ENSG00000176697		"Endogenous ligands"	1033	protein-coding gene	gene with protein product	"neurotrophin"	113505				2236018, 1889806, 17942328, 17493809	Standard	NM_170731		Approved		uc009yje.3	P23560	OTTHUMG00000178797	ENST00000525528.1:c.56_63delCCCCCATG	chr11.hg19:g.27680049_27680056delCATGGGGG	ENSP00000437138:p.Ala19fs		A7LA85|A7LA92|D3DQZ2|Q598Q1|Q6DN19|Q6YNR2|Q6YNR3|Q9BYY7|Q9UC24	Frame_Shift_Del	DEL	ENST00000525528.1	hg19	CCDS7866.1																																																																																				0.514	BDNF-016	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388135.1	NM_170735		-	27680056	CATGGGGG	-	27680049	7	5	762	1	0	1	0	1	0	0	0	0	1394	826	29	0	684	0	BDNF	11	27680049	Frame_Shift_Del	DEL	CATGGGGG	TCGA-MH-A55Z-01A-11D-A26P-10	22743546	27680049	107326467	57	44938											
SYT13	57586	hgsc.bcm.edu	37	11	45277229	45277229	+	Missense_Mutation	SNP	G	G	C			TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr11:45277229G>C	ENST00000020926.3	-	2	508	c.397C>G	c.(397-399)Ctc>Gtc	p.L133V	CTD-2560E9.5_ENST00000534342.1_RNA|CTD-2560E9.5_ENST00000531663.1_RNA	NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	133					vesicle-mediated transport (GO:0016192)	integral component of plasma membrane (GO:0005887)|transport vesicle (GO:0030133)				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						TTCTGAGGGAGGATGAACAGC	0.592																																																0													53	47	49					11																	45277229		2203	4299	6502	SO:0001583	missense	57586			AB037848	CCDS31470.1	11p12-p11	2013-01-21			ENSG00000019505	ENSG00000019505		"Synaptotagmins"	14962	protein-coding gene	gene with protein product		607716				11171101	Standard	NM_020826		Approved	KIAA1427	uc001myq.2	Q7L8C5	OTTHUMG00000166504	ENST00000020926.3:c.397C>G	chr11.hg19:g.45277229G>C	ENSP00000020926:p.Leu133Val		A8K4P4|D3DQP1|Q9BQS3|Q9H041|Q9P2C0	Missense_Mutation	SNP	ENST00000020926.3	hg19	CCDS31470.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.810428	0.50421	.	.	ENSG00000019505	ENST00000020926	T	0.08370	3.1	5.39	5.39	0.77823	.	0.077197	0.52532	D	0.000067	T	0.06917	0.0176	N	0.24115	0.695	0.33493	D	0.588914	B	0.23650	0.089	B	0.21917	0.037	T	0.17501	-1.0367	10	0.30078	T	0.28	.	13.5218	0.61572	0.0:0.0:0.8444:0.1556	.	133	Q7L8C5	SYT13_HUMAN	V	133	ENSP00000020926:L133V	ENSP00000020926:L133V	L	-	1	0	SYT13	45233805	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	3.496000	0.53288	2.679000	0.91253	0.561000	0.74099	CTC		0.592	SYT13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390110.1	NM_020826		C	45277229	G	C	45277229	3	2	762	1	0	0	0	0	1	0	0	0	15474	1000	35	4	903	4	SYT13	11	45277229	Missense_Mutation	SNP	G	TCGA-MH-A55Z-01A-11D-A26P-10	17597180	45277229	89729287	58	44939											
LTBP3	4054	hgsc.bcm.edu	37	11	65319017	65319017	+	Splice_Site	SNP	A	A	T			TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr11:65319017A>T	ENST00000301873.5	-	9	1817		c.e9+1		LTBP3_ENST00000532932.1_5'Flank|LTBP3_ENST00000536982.1_Splice_Site|LTBP3_ENST00000322147.4_Splice_Site	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3						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						TCTCATACTCACTGAGTCCGT	0.592																																																0													68	58	62					11																	65319017		2201	4297	6498	SO:0001630	splice_region_variant	4054			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.1548+1T>A	chr11.hg19:g.65319017A>T			O15107|Q96HB9|Q9H7K2|Q9UFN4	Splice_Site	SNP	ENST00000301873.5	hg19	CCDS44647.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.029156	0.75504	.	.	ENSG00000168056	ENST00000322147;ENST00000301873;ENST00000526927;ENST00000536982;ENST00000530866	.	.	.	4.96	4.96	0.65561	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.0038	0.47622	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LTBP3	65075593	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.837000	0.62796	1.861000	0.53984	0.329000	0.21502	.		0.592	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390538.1	NM_021070	Intron	T	65319017	A	T	65319017	5	4	762	1	0	0	0	0	0	0	1	0	9077	173	6	5	2441	5	LTBP3	11	65319017	Splice_Site	SNP	A	TCGA-MH-A55Z-01A-11D-A26P-10	20041788	65319017	69687499	59	44940											
SIPA1	6494	hgsc.bcm.edu	37	11	65412463	65412463	+	Missense_Mutation	SNP	G	G	A	rs146916012		TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr11:65412463G>A	ENST00000394224.3	+	5	1318	c.1022G>A	c.(1021-1023)cGg>cAg	p.R341Q	SIPA1_ENST00000527525.1_Missense_Mutation_p.R341Q|SIPA1_ENST00000394227.3_Missense_Mutation_p.R341Q|SIPA1_ENST00000534313.1_Missense_Mutation_p.R341Q	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	341	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				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						CTGTACTGCCGGGCGGGCCAG	0.622																																																0								G	GLN/ARG,GLN/ARG	0,4402		0,0,2201	86	88	87		1022,1022	4.8	1	11	dbSNP_134	87	2,8592	2.2+/-6.3	0,2,4295	yes	missense,missense	SIPA1	NM_006747.3,NM_153253.29	43,43	0,2,6496	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging	341/1043,341/1043	65412463	2,12994	2201	4297	6498	SO:0001583	missense	6494			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.1022G>A	chr11.hg19:g.65412463G>A	ENSP00000377771:p.Arg341Gln		O14518|O60484|O60618|Q2YD83	Missense_Mutation	SNP	ENST00000394224.3	hg19	CCDS8108.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.872939	0.91664	0.0	2.33E-4	ENSG00000213445	ENST00000534313;ENST00000527525;ENST00000394224;ENST00000394227	D;D;D;D	0.93859	-3.3;-3.3;-3.3;-3.3	4.78	4.78	0.61160	Rap/ran-GAP (1);	0.123367	0.30667	U	0.009135	D	0.94499	0.8229	L	0.41027	1.25	0.47994	D	0.999563	D;D	0.89917	1.0;1.0	D;D	0.69824	0.966;0.926	D	0.94259	0.7500	10	0.45353	T	0.12	-21.0415	15.6687	0.77255	0.0:0.0:1.0:0.0	.	341;341	F6RY50;Q96FS4	.;SIPA1_HUMAN	Q	341	ENSP00000436269:R341Q;ENSP00000433686:R341Q;ENSP00000377771:R341Q;ENSP00000377774:R341Q	ENSP00000377771:R341Q	R	+	2	0	SIPA1	65169039	0.996000	0.38824	0.989000	0.46669	0.990000	0.78478	1.561000	0.36342	2.368000	0.80403	0.561000	0.74099	CGG		0.622	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390356.1	NM_006747		A	65412463	G	A	65412463	3	1	762	1	0	0	0	0	1	0	0	0	14334	1116	39	1	1036	1	SIPA1	11	65412463	Missense_Mutation	SNP	G	TCGA-MH-A55Z-01A-11D-A26P-10	93446	65412463	69594053	60	44941											
CHEK1	1111	hgsc.bcm.edu	37	11	125497532	125497532	+	Missense_Mutation	SNP	A	A	C			TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr11:125497532A>C	ENST00000534070.1	+	3	351	c.96A>C	c.(94-96)gaA>gaC	p.E32D	CHEK1_ENST00000278916.3_Missense_Mutation_p.E32D|CHEK1_ENST00000438015.1_Missense_Mutation_p.E32D|CHEK1_ENST00000428830.2_Missense_Mutation_p.E32D|CHEK1_ENST00000427383.2_Intron|CHEK1_ENST00000524737.1_Missense_Mutation_p.E32D|CHEK1_ENST00000532449.1_Intron|CHEK1_ENST00000544373.1_Missense_Mutation_p.E32D	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN	checkpoint kinase 1	32	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)		GAGTAACTGAAGAAGCAGTCG	0.328								Other conserved DNA damage response genes																																								0													50	54	52					11																	125497532		2201	4299	6500	SO:0001583	missense	1111			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.96A>C	chr11.hg19:g.125497532A>C	ENSP00000435371:p.Glu32Asp		A8K934|B4DDD0|B4DSK3|B5BTY6|F5H7S4|H2BI51	Missense_Mutation	SNP	ENST00000534070.1	hg19	CCDS8459.1	.	.	.	.	.	.	.	.	.	.	A	10.22	1.289544	0.23478	.	.	ENSG00000149554	ENST00000438015;ENST00000525396;ENST00000428830;ENST00000544373;ENST00000527013;ENST00000526937;ENST00000534685;ENST00000533778;ENST00000534070;ENST00000524737;ENST00000278916	T;T;T;T;T;T;T;T;T;T;T	0.41400	1.9;1.9;1.9;1.9;1.9;1.9;1.9;1.0;1.9;1.9;1.9	5.21	4.09	0.47781	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	0.23171	0.0560	N	0.05383	-0.06	0.53688	D	0.999972	B;B;B	0.19200	0.027;0.034;0.034	B;B;B	0.25405	0.036;0.06;0.06	T	0.04537	-1.0944	10	0.37606	T	0.19	.	8.9327	0.35680	0.8441:0.0:0.1559:0.0	.	32;32;32	F5H7S4;B5BTY6;O14757	.;.;CHK1_HUMAN	D	32	ENSP00000388648:E32D;ENSP00000434141:E32D;ENSP00000412504:E32D;ENSP00000442317:E32D;ENSP00000431525:E32D;ENSP00000431815:E32D;ENSP00000432470:E32D;ENSP00000433103:E32D;ENSP00000435371:E32D;ENSP00000432890:E32D;ENSP00000278916:E32D	ENSP00000278916:E32D	E	+	3	2	CHEK1	125002742	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	0.843000	0.27640	0.957000	0.37930	0.477000	0.44152	GAA		0.328	CHEK1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386714.1	NM_001274		C	125497532	A	C	125497532	3	2	762	1	0	0	0	0	1	0	0	0	3336	69	3	5	102	5	CHEK1	11	125497532	Missense_Mutation	SNP	A	TCGA-MH-A55Z-01A-11D-A26P-10	60085069	125497532	9508984	61	44942											
NFRKB	4798	hgsc.bcm.edu	37	11	129747271	129747271	+	Silent	SNP	G	G	A			TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr11:129747271G>A	ENST00000446488.3	-	15	1624	c.1521C>T	c.(1519-1521)gaC>gaT	p.D507D	NFRKB_ENST00000304521.5_Silent_p.D507D|NFRKB_ENST00000524746.1_Silent_p.D507D|NFRKB_ENST00000524794.1_Silent_p.D532D	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	507					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)		GCACCACATAGTCAGTTCTTC	0.507																																																0													161	149	153					11																	129747271		2201	4297	6498	SO:0001819	synonymous_variant	4798				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.1521C>T	chr11.hg19:g.129747271G>A			Q12869|Q15312|Q9H048	Silent	SNP	ENST00000446488.3	hg19	CCDS44770.1																																																																																				0.507	NFRKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386063.2	NM_006165		A	129747271	G	A	129747271	2	1	762	1	0	0	0	0	0	0	0	1	10386	1020	36	2		2	NFRKB	11	129747271	Silent	SNP	G	TCGA-MH-A55Z-01A-11D-A26P-10	4249739	129747271	5259245	62	44943											
C12orf57	113246	hgsc.bcm.edu	37	12	7053729	7053729	+	Missense_Mutation	SNP	G	G	T			TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr12:7053729G>T	ENST00000229281.5	+	2	242	c.143G>T	c.(142-144)gGt>gTt	p.G48V	C12orf57_ENST00000540506.2_Missense_Mutation_p.G13V|U47924.31_ENST00000607421.1_RNA|C12orf57_ENST00000537087.1_Splice_Site|C12orf57_ENST00000544681.1_Missense_Mutation_p.G48V|PTPN6_ENST00000447931.2_5'Flank|C12orf57_ENST00000542222.1_3'UTR|RNU7-1_ENST00000458811.1_RNA|PTPN6_ENST00000399448.1_5'Flank	NM_138425.2	NP_612434.1	Q99622	C10_HUMAN	chromosome 12 open reading frame 57	48						cytoplasm (GO:0005737)				kidney(1)|large_intestine(1)	2						AACGACATGGGTAAGATGCTG	0.627											OREG0021642	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													90	66	74					12																	7053729		2203	4300	6503	SO:0001583	missense	113246			U47924	CCDS8571.1	12p13.31	2012-05-30			ENSG00000111678	ENSG00000111678			29521	protein-coding gene	gene with protein product		615140				9445485	Standard	NM_138425		Approved	GRCC10, C10	uc009zfj.2	Q99622	OTTHUMG00000169017	ENST00000229281.5:c.143G>T	chr12.hg19:g.7053729G>T	ENSP00000229281:p.Gly48Val	638	B2R4Q6	Missense_Mutation	SNP	ENST00000229281.5	hg19	CCDS8571.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.6|24.6	4.552280|4.552280	0.86127|0.86127	.|.	.|.	ENSG00000111678|ENSG00000111678	ENST00000537087|ENST00000545581;ENST00000229281	.|T;T	.|0.75938	.|-0.98;-0.98	3.74|3.74	3.74|3.74	0.42951|0.42951	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.74412	.|0.3713	L|L	0.31664|0.31664	0.95|0.95	0.80722|0.80722	D|D	1|1	.|D;B	.|0.76494	.|0.999;0.106	.|D;B	.|0.74023	.|0.982;0.013	.|T	.|0.67673	.|-0.5610	.|10	.|0.06625	.|T	.|0.88	.|-25.1478	14.5671|14.5671	0.68185|0.68185	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|48;48	.|F5GXW5;Q99622	.|.;C10_HUMAN	.|V	-1|48	.|ENSP00000440602:G48V;ENSP00000229281:G48V	.|ENSP00000229281:G48V	.|G	+|+	.|2	.|0	C12orf57|C12orf57	6923990|6923990	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	9.007000|9.007000	0.93597|0.93597	2.373000|2.373000	0.80994|0.80994	0.561000|0.561000	0.74099|0.74099	.|GGT		0.627	C12orf57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401959.1	NM_138425		T	7053729	G	T	7053729	3	4	762	1	0	0	0	0	1	0	0	0	1703	1261	44	4	149	4	C12orf57	12	7053729	Missense_Mutation	SNP	G	TCGA-MH-A55Z-01A-11D-A26P-10		7053729	126798166	63	44944											
TAS2R43	259289	hgsc.bcm.edu	37	12	11244149	11244149	+	Frame_Shift_Del	DEL	G	G	-	rs73064964	byFrequency	TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr12:11244149delG	ENST00000531678.1	-	1	763	c.680delC	c.(679-681)gctfs	p.A227fs	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176884.2	NP_795365.2	P59537	T2R43_HUMAN	taste receptor, type 2, member 43	227					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(1)|ovary(1)|prostate(2)|urinary_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		AGTTTGCAAAGCTTTTATGTG	0.393																																																0													137	119	125					12																	11244149		2179	4249	6428	SO:0001589	frameshift_variant	259289			AF494237	CCDS53749.1	12p13.2	2012-08-22				ENSG00000255374		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18875	protein-coding gene	gene with protein product		612668				12379855	Standard	NM_176884		Approved	T2R52	uc001qzq.1	P59537		ENST00000531678.1:c.680delC	chr12.hg19:g.11244149delG	ENSP00000431719:p.Ala227fs		P59546|Q645X4	Frame_Shift_Del	DEL	ENST00000531678.1	hg19	CCDS53749.1																																																																																				0.393	TAS2R43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383561.1	NM_176884		-	11244149	G	-	11244149	7	5	762	1	0	1	0	1	0	0	0	0	15586	971	34	0	253	0	TAS2R43	12	11244149	Frame_Shift_Del	DEL	G	TCGA-MH-A55Z-01A-11D-A26P-10	4190420	11244149	122607746	64	44945											
PLEKHA5	54477	hgsc.bcm.edu	37	12	19500042	19500042	+	Intron	SNP	A	A	G			TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr12:19500042A>G	ENST00000299275.6	+	18	2406				PLEKHA5_ENST00000429027.2_Missense_Mutation_p.R942G|PLEKHA5_ENST00000539256.1_Intron|PLEKHA5_ENST00000359180.3_Intron|PLEKHA5_ENST00000538714.1_Intron|PLEKHA5_ENST00000355397.3_Intron|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.R839G|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.R758G|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.R765G	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5						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)					CTGTTATAGCAGGGGCCCAGT	0.498																																					Pancreas(196;329 2193 11246 14234 19524)											0													91	80	83					12																	19500042		692	1591	2283	SO:0001627	intron_variant	54477			AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"Pleckstrin homology (PH) domain containing"	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.2400+1220A>G	chr12.hg19:g.19500042A>G			A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Missense_Mutation	SNP	ENST00000299275.6	hg19	CCDS8682.1	.	.	.	.	.	.	.	.	.	.	A	17.44	3.391185	0.62066	.	.	ENSG00000052126	ENST00000317589;ENST00000542828;ENST00000429027;ENST00000424268;ENST00000543806;ENST00000536974	T;T;T;T;T	0.10005	2.92;2.92;2.92;2.92;2.92	5.66	4.53	0.55603	.	0.154367	0.42420	D	0.000712	T	0.11196	0.0273	.	.	.	0.80722	D	1	B;B;B;B;B	0.27625	0.08;0.183;0.115;0.115;0.115	B;B;B;B;B	0.33690	0.12;0.168;0.081;0.081;0.031	T	0.06534	-1.0821	9	0.72032	D	0.01	-15.471	7.1521	0.25616	0.7782:0.1481:0.0737:0.0	.	839;758;765;937;942	Q9HAU0-4;F5H0I0;E7EME8;B4DHK5;E9PHQ3	.;.;.;.;.	G	839;938;942;765;758;731	ENSP00000325155:R839G;ENSP00000404296:R942G;ENSP00000400411:R765G;ENSP00000439837:R758G;ENSP00000440371:R731G	ENSP00000325155:R839G	R	+	1	2	PLEKHA5	19391309	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.764000	0.62264	2.137000	0.66172	0.528000	0.53228	AGG		0.498	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397013.1	NM_019012		G	19500042	A	G	19500042	1	3	762	0	1	0	0	0	0	0	0	0	12061	179	7	3		3	PLEKHA5	12	19500042	Intron	SNP	A	TCGA-MH-A55Z-01A-11D-A26P-10	8255893	19500042	114351853	65	44946											
SPRYD4	283377	hgsc.bcm.edu	37	12	56862411	56862411	+	Silent	SNP	C	C	T			TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr12:56862411C>T	ENST00000338146.5	+	1	111	c.36C>T	c.(34-36)tgC>tgT	p.C12C	MIP_ENST00000555551.1_Intron	NM_207344.3	NP_997227	Q8WW59	SPRY4_HUMAN	SPRY domain containing 4	12	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					mitochondrion (GO:0005739)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)	7						TGCGCTTGTGCCGCTGGGGAG	0.567																																																0													136	125	129					12																	56862411		2203	4300	6503	SO:0001819	synonymous_variant	283377			AL832247	CCDS8920.1	12q13.3	2006-03-09				ENSG00000176422			27468	protein-coding gene	gene with protein product							Standard	NM_207344		Approved	DKFZp686N0877	uc001sli.4	Q8WW59		ENST00000338146.5:c.36C>T	chr12.hg19:g.56862411C>T			A8K7A5	Silent	SNP	ENST00000338146.5	hg19	CCDS8920.1																																																																																				0.567	SPRYD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_207344		T	56862411	C	T	56862411	2	4	762	1	0	0	0	0	0	0	0	1	15115	747	26	2		2	SPRYD4	12	56862411	Silent	SNP	C	TCGA-MH-A55Z-01A-11D-A26P-10	37362369	56862411	76989484	66	44947											
SLC5A8	160728	hgsc.bcm.edu	37	12	101588897	101588897	+	Silent	SNP	C	C	T			TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr12:101588897C>T	ENST00000536262.2	-	4	1071	c.513G>A	c.(511-513)gtG>gtA	p.V171V		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						ATGTGCAGACCACCCCCGTTG	0.403																																					GBM(60;420 1056 13605 22380 47675)											0													99	86	90					12																	101588897		2203	4300	6503	SO:0001819	synonymous_variant	160728			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.513G>A	chr12.hg19:g.101588897C>T				Silent	SNP	ENST00000536262.2	hg19	CCDS9080.1																																																																																				0.403	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	NM_145913		T	101588897	C	T	101588897	2	4	762	1	0	0	0	0	0	0	0	1	14677	581	21	2		2	SLC5A8	12	101588897	Silent	SNP	C	TCGA-MH-A55Z-01A-11D-A26P-10	44726486	101588897	32262998	67	44948											
BTBD11	121551	hgsc.bcm.edu	37	12	107713245	107713245	+	Silent	SNP	G	G	A			TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr12:107713245G>A	ENST00000280758.5	+	1	1056	c.528G>A	c.(526-528)gcG>gcA	p.A176A	BTBD11_ENST00000420571.2_Silent_p.A176A|BTBD11_ENST00000490090.2_Silent_p.A176A	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	176						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						GCCTGGCCGCGCACTGTACGG	0.697																																																0													11	10	10					12																	107713245		2095	4067	6162	SO:0001819	synonymous_variant	121551			AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.528G>A	chr12.hg19:g.107713245G>A			A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Silent	SNP	ENST00000280758.5	hg19	CCDS31893.1																																																																																				0.697	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322		A	107713245	G	A	107713245	2	1	762	1	0	0	0	0	0	0	0	1	1541	1074	38	1		1	BTBD11	12	107713245	Silent	SNP	G	TCGA-MH-A55Z-01A-11D-A26P-10	6124348	107713245	26138650	68	44949											
GPC6	10082	hgsc.bcm.edu	37	13	94197565	94197565	+	Missense_Mutation	SNP	A	A	T			TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr13:94197565A>T	ENST00000377047.4	+	2	825	c.210A>T	c.(208-210)gaA>gaT	p.E70D		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	70					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)				GCACCACAGAAATGGAAGACA	0.408																																																0													154	142	146					13																	94197565		2203	4300	6503	SO:0001583	missense	10082			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.210A>T	chr13.hg19:g.94197565A>T	ENSP00000366246:p.Glu70Asp		A8K279|Q96SG5|Q96SG8|Q9H1P4	Missense_Mutation	SNP	ENST00000377047.4	hg19	CCDS9469.1	.	.	.	.	.	.	.	.	.	.	A	14.65	2.598483	0.46318	.	.	ENSG00000183098	ENST00000377047	T	0.52983	0.64	5.0	3.82	0.43975	.	0.074354	0.51477	D	0.000081	T	0.43919	0.1269	L	0.51853	1.615	0.31140	N	0.706753	B;B	0.21452	0.031;0.056	B;B	0.30646	0.118;0.101	T	0.50110	-0.8866	10	0.46703	T	0.11	.	10.667	0.45736	0.9242:0.0:0.0758:0.0	.	70;70	B4E2M1;Q9Y625	.;GPC6_HUMAN	D	70	ENSP00000366246:E70D	ENSP00000366246:E70D	E	+	3	2	GPC6	92995566	0.997000	0.39634	1.000000	0.80357	0.999000	0.98932	0.672000	0.25187	0.867000	0.35654	0.524000	0.50904	GAA		0.408	GPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045460.4	NM_005708		T	94197565	A	T	94197565	3	4	762	1	0	0	0	0	1	0	0	0	6604	11	1	5	216	5	GPC6	13	94197565	Missense_Mutation	SNP	A	TCGA-MH-A55Z-01A-11D-A26P-10		94197565	20972313	69	44950											
LRFN5	145581	hgsc.bcm.edu	37	14	42360768	42360768	+	Silent	SNP	C	C	T			TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr14:42360768C>T	ENST00000298119.4	+	4	2890	c.1701C>T	c.(1699-1701)agC>agT	p.S567S	LRFN5_ENST00000554171.1_Intron|LRFN5_ENST00000554120.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	567						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)		CCAAGGTTAGCAATGTTTATT	0.458										HNSCC(30;0.082)																																						0													103	99	100					14																	42360768		2203	4300	6503	SO:0001819	synonymous_variant	145581			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.1701C>T	chr14.hg19:g.42360768C>T			B3KU78|Q86XL2	Silent	SNP	ENST00000298119.4	hg19	CCDS9678.1																																																																																				0.458	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		T	42360768	C	T	42360768	2	4	762	1	0	0	0	0	0	0	0	1	8943	709	25	2		2	LRFN5	14	42360768	Silent	SNP	C	TCGA-MH-A55Z-01A-11D-A26P-10		42360768	64988772	70	44951											
NEK9	91754	hgsc.bcm.edu	37	14	75558059	75558059	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr14:75558059G>A	ENST00000238616.5	-	19	2514	c.2356C>T	c.(2356-2358)Cga>Tga	p.R786*		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	786	Interaction with NEK6.|Pro/Ser/Thr-rich.				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)		TCCATTCCTCGGTCTGCTTCC	0.567																																																0													116	104	108					14																	75558059		2203	4300	6503	SO:0001587	stop_gained	91754			AY048580	CCDS9839.1	14q24.2	2012-11-15	2012-11-15		ENSG00000119638	ENSG00000119638			18591	protein-coding gene	gene with protein product		609798	"NIMA (never in mitosis gene a)- related kinase 9"			11864968	Standard	NM_033116		Approved	Nek8, NERCC, DKFZp434D0935, MGC16714	uc001xrl.3	Q8TD19	OTTHUMG00000171768	ENST00000238616.5:c.2356C>T	chr14.hg19:g.75558059G>A	ENSP00000238616:p.Arg786*		Q52LK6|Q8NCN0|Q8TCY4|Q9UPI4|Q9Y6S4|Q9Y6S5|Q9Y6S6	Nonsense_Mutation	SNP	ENST00000238616.5	hg19	CCDS9839.1	.	.	.	.	.	.	.	.	.	.	G	41	9.014481	0.99037	.	.	ENSG00000119638	ENST00000238616	.	.	.	5.66	5.66	0.87406	.	0.295996	0.31673	N	0.007256	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.752	0.96271	0.0:0.0:1.0:0.0	.	.	.	.	X	786	.	ENSP00000238616:R786X	R	-	1	2	NEK9	74627812	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.628000	0.61282	2.668000	0.90789	0.462000	0.41574	CGA		0.567	NEK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415021.1	NM_033116		A	75558059	G	A	75558059	4	1	762	1	0	0	0	0	0	1	0	0	10333	1124	39	1	599	1	NEK9	14	75558059	Nonsense_Mutation	SNP	G	TCGA-MH-A55Z-01A-11D-A26P-10	33197291	75558059	31791481	71	44952											
MTMR10	54893	hgsc.bcm.edu	37	15	31251264	31251264	+	Silent	SNP	G	G	C			TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr15:31251264G>C	ENST00000435680.1	-	8	916	c.819C>G	c.(817-819)tcC>tcG	p.S273S	MTMR10_ENST00000563714.1_Silent_p.S191S|RNU6-466P_ENST00000391224.1_RNA|MTMR10_ENST00000425768.1_3'UTR|MTMR10_ENST00000314404.8_Silent_p.S25S	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	273	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.						phosphatase activity (GO:0016791)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		CAAAAGAATGGGAAAAGATCT	0.383																																																0													67	63	64					15																	31251264		1866	4106	5972	SO:0001819	synonymous_variant	54893			AK000320	CCDS45204.1	15q13.3	2011-06-09				ENSG00000166912		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	25999	protein-coding gene	gene with protein product						12495846	Standard	NM_017762		Approved	FLJ20313	uc001zfh.1	Q9NXD2		ENST00000435680.1:c.819C>G	chr15.hg19:g.31251264G>C			Q6P4Q6	Silent	SNP	ENST00000435680.1	hg19	CCDS45204.1																																																																																				0.383	MTMR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430747.1	NM_017762		C	31251264	G	C	31251264	2	2	762	1	0	0	0	0	0	0	0	1	9941	1219	43	4		4	MTMR10	15	31251264	Silent	SNP	G	TCGA-MH-A55Z-01A-11D-A26P-10		31251264	71280128	72	44953											
COPS2	9318	hgsc.bcm.edu	37	15	49421727	49421727	+	Missense_Mutation	SNP	G	G	A			TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr15:49421727G>A	ENST00000388901.5	-	11	1148	c.1075C>T	c.(1075-1077)Ctt>Ttt	p.L359F	COPS2_ENST00000299259.6_Missense_Mutation_p.L366F|COPS2_ENST00000542928.1_Missense_Mutation_p.L295F	NM_001143887.1|NM_004236.3	NP_001137359.1|NP_004227.1	P61201	CSN2_HUMAN	COP9 signalosome subunit 2	359	PCI.				cell proliferation (GO:0008283)|cullin deneddylation (GO:0010388)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		AATTTTATAAGCACTTGTGTT	0.229																																					NSCLC(36;322 1063 10349 30082 48062)|Esophageal Squamous(122;685 1633 15569 21293 52803)											0													24	25	24					15																	49421727		2132	4209	6341	SO:0001583	missense	9318			AF212227	CCDS32235.1, CCDS45257.1	15q21.2	2013-03-14	2013-03-14						30747	protein-coding gene	gene with protein product		604508	"COP9 constitutive photomorphogenic homolog subunit 2 (Arabidopsis)"			7776974, 9535219	Standard	NM_004236		Approved	TRIP15, ALIEN, CSN2	uc001zxh.3	P61201		ENST00000388901.5:c.1075C>T	chr15.hg19:g.49421727G>A	ENSP00000373553:p.Leu359Phe		O88950|Q15647|Q6FGP4|Q9BY54|Q9R249|Q9UNI2|Q9UNQ5	Missense_Mutation	SNP	ENST00000388901.5	hg19	CCDS32235.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.868385	0.91587	.	.	ENSG00000166200	ENST00000299259;ENST00000388901;ENST00000542928	T;T;T	0.44083	0.93;0.93;0.93	5.05	5.05	0.67936	Winged helix-turn-helix transcription repressor DNA-binding (1);Proteasome component (PCI) domain (2);	0.000000	0.85682	D	0.000000	T	0.76737	0.4029	H	0.96208	3.785	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.995;0.995;0.998	D	0.84887	0.0834	10	0.72032	D	0.01	-18.1449	18.7719	0.91896	0.0:0.0:1.0:0.0	.	295;367;359	B4DIH5;Q59EL2;P61201	.;.;CSN2_HUMAN	F	366;359;295	ENSP00000299259:L366F;ENSP00000373553:L359F;ENSP00000443664:L295F	ENSP00000299259:L366F	L	-	1	0	COPS2	47209019	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.747000	0.98863	2.498000	0.84270	0.655000	0.94253	CTT		0.229	COPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417840.1	NM_004236		A	49421727	G	A	49421727	3	1	762	1	0	0	0	0	1	0	0	0	3735	971	34	2	268	2	COPS2	15	49421727	Missense_Mutation	SNP	G	TCGA-MH-A55Z-01A-11D-A26P-10	18170463	49421727	53109665	73	44954											
AP4E1	23431	hgsc.bcm.edu	37	15	51294808	51294808	+	Silent	SNP	T	T	G			TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr15:51294808T>G	ENST00000261842.5	+	21	3469	c.3363T>G	c.(3361-3363)acT>acG	p.T1121T	AP4E1_ENST00000560508.1_Silent_p.T1046T|AP4E1_ENST00000561397.1_3'UTR	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	1121					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)		CCTGTTCTACTCTTCCTGACT	0.463																																																0													275	213	234					15																	51294808		2196	4294	6490	SO:0001819	synonymous_variant	23431			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.3363T>G	chr15.hg19:g.51294808T>G			A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Silent	SNP	ENST00000261842.5	hg19	CCDS32240.1																																																																																				0.463	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418656.1			G	51294808	T	G	51294808	2	3	762	1	0	0	0	0	0	0	0	1	752	1538	54	5		5	AP4E1	15	51294808	Silent	SNP	T	TCGA-MH-A55Z-01A-11D-A26P-10	1873081	51294808	51236584	74	44955											
ADCY9	115	hgsc.bcm.edu	37	16	4164714	4164714	+	Silent	SNP	G	G	A			TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr16:4164714G>A	ENST00000294016.3	-	2	1268	c.730C>T	c.(730-732)Ctg>Ttg	p.L244L		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	244					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						CACAAACTCAGGTACAAAGGT	0.552																																																0													58	46	50					16																	4164714		2196	4299	6495	SO:0001819	synonymous_variant	115			AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"Adenylate cyclases"	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.730C>T	chr16.hg19:g.4164714G>A			A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Silent	SNP	ENST00000294016.3	hg19	CCDS32382.1																																																																																				0.552	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			A	4164714	G	A	4164714	2	1	762	1	0	0	0	0	0	0	0	1	301	991	35	2		2	ADCY9	16	4164714	Silent	SNP	G	TCGA-MH-A55Z-01A-11D-A26P-10		4164714	86190039	75	44956											
MPRIP	23164	hgsc.bcm.edu	37	17	17075111	17075111	+	Missense_Mutation	SNP	G	G	A			TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr17:17075111G>A	ENST00000341712.4	+	16	2243	c.2243G>A	c.(2242-2244)cGg>cAg	p.R748Q	MPRIP_ENST00000395804.3_Missense_Mutation_p.R748Q|RP11-45M22.3_ENST00000584203.1_RNA|MPRIP_ENST00000395811.5_Missense_Mutation_p.R748Q|RNU6-767P_ENST00000384132.1_RNA|MPRIP_ENST00000444976.1_Missense_Mutation_p.R710Q			Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	748	Interaction with RHOA.					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						CAGCACCAGCGGGAGCTAGAG	0.572																																																0													71	85	80					17																	17075111		2203	4300	6503	SO:0001583	missense	23164			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.2243G>A	chr17.hg19:g.17075111G>A	ENSP00000342379:p.Arg748Gln		Q3KQZ5|Q5FB94|Q6DHW2|Q7Z5Y2|Q8N390|Q96G40	Missense_Mutation	SNP	ENST00000341712.4	hg19	CCDS32578.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.7|29.7	5.027583|5.027583	0.93518|0.93518	.|.	.|.	ENSG00000133030|ENSG00000133030	ENST00000414263|ENST00000444976;ENST00000395811;ENST00000395804;ENST00000341712	.|T;T;T;T	.|0.25579	.|1.79;2.12;2.13;2.13	5.79|5.79	5.79|5.79	0.91817|0.91817	.|.	.|0.126948	.|0.50627	.|D	.|0.000103	T|T	0.44307|0.44307	0.1287|0.1287	L|L	0.37850|0.37850	1.14|1.14	0.44373|0.44373	D|D	0.99727|0.99727	.|D;P;D	.|0.89917	.|1.0;0.777;1.0	.|D;B;D	.|0.79108	.|0.992;0.346;0.992	T|T	0.12941|0.12941	-1.0528|-1.0528	5|10	.|0.46703	.|T	.|0.11	-16.1602|-16.1602	20.032|20.032	0.97543|0.97543	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1112;748;748	.|Q9Y6X7;Q6WCQ1-2;Q6WCQ1	.|.;.;MPRIP_HUMAN	R|Q	814|710;748;748;748	.|ENSP00000400189:R710Q;ENSP00000379156:R748Q;ENSP00000379149:R748Q;ENSP00000342379:R748Q	.|ENSP00000342379:R748Q	G|R	+|+	1|2	0|0	MPRIP|MPRIP	17015836|17015836	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	9.387000|9.387000	0.97232|0.97232	2.743000|2.743000	0.94032|0.94032	0.655000|0.655000	0.94253|0.94253	GGG|CGG		0.572	MPRIP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131587.1	NM_015134		A	17075111	G	A	17075111	3	1	762	1	0	0	0	0	1	0	0	0	9745	1116	39	1	2305	1	MPRIP	17	17075111	Missense_Mutation	SNP	G	TCGA-MH-A55Z-01A-11D-A26P-10		17075111	64120099	76	44957											
PSMC3IP	29893	hgsc.bcm.edu	37	17	40729246	40729246	+	Missense_Mutation	SNP	G	G	C			TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr17:40729246G>C	ENST00000393795.3	-	3	318	c.210C>G	c.(208-210)atC>atG	p.I70M	PSMC3IP_ENST00000590760.1_De_novo_Start_OutOfFrame|PSMC3IP_ENST00000253789.5_Missense_Mutation_p.I70M|PSMC3IP_ENST00000587209.1_Missense_Mutation_p.I7M	NM_001256015.1|NM_001256016.1|NM_016556.3	NP_001242944.1|NP_001242945.1|NP_057640.1	Q9P2W1	HOP2_HUMAN	PSMC3 interacting protein	70					DNA recombination (GO:0006310)|meiotic nuclear division (GO:0007126)|regulation of RNA biosynthetic process (GO:2001141)	nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			endometrium(2)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(2)	7		all_cancers(22;0.00426)|Breast(137;0.00116)|all_epithelial(22;0.0395)		BRCA - Breast invasive adenocarcinoma(366;0.13)		CCGCAAAATAGATCTTCTGCT	0.532																																																0													163	113	130					17																	40729246		2203	4300	6503	SO:0001583	missense	29893			AB030304, NM_013290, BC008792	CCDS11431.1, CCDS45688.1, CCDS59289.1	17q21.2	2012-04-10				ENSG00000131470		"Proteasome (prosome, macropain) subunits"	17928	protein-coding gene	gene with protein product	"TBP-1 interacting protein"	608665				7490091, 10806355, 11739747	Standard	NM_016556		Approved	TBPIP, GT198, HUMGT198A	uc002iai.3	Q9P2W1		ENST00000393795.3:c.210C>G	chr17.hg19:g.40729246G>C	ENSP00000377384:p.Ile70Met		C5ILB7|Q14458|Q8WXG2|Q96HA2	Missense_Mutation	SNP	ENST00000393795.3	hg19	CCDS45688.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.105854	0.77096	.	.	ENSG00000131470	ENST00000393795;ENST00000253789	T;T	0.60797	0.16;0.16	5.8	-1.78	0.07957	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.051811	0.85682	D	0.000000	T	0.71753	0.3377	M	0.81802	2.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	T	0.71738	-0.4502	10	0.72032	D	0.01	-11.3368	11.3412	0.49533	0.0598:0.0:0.3656:0.5746	.	70;70	Q9P2W1-2;Q9P2W1	.;HOP2_HUMAN	M	70	ENSP00000377384:I70M;ENSP00000253789:I70M	ENSP00000253789:I70M	I	-	3	3	PSMC3IP	37982772	0.947000	0.32204	0.954000	0.39281	0.978000	0.69477	-0.022000	0.12480	-0.533000	0.06323	0.655000	0.94253	ATC		0.532	PSMC3IP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450427.1	NM_013290		C	40729246	G	C	40729246	3	2	762	1	0	0	0	0	1	0	0	0	12693	932	33	4	467	4	PSMC3IP	17	40729246	Missense_Mutation	SNP	G	TCGA-MH-A55Z-01A-11D-A26P-10	23654135	40729246	40465964	77	44958											
TRIM25	7706	hgsc.bcm.edu	37	17	54969126	54969126	+	Missense_Mutation	SNP	C	C	G			TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr17:54969126C>G	ENST00000316881.4	-	9	1877	c.1828G>C	c.(1828-1830)Gct>Cct	p.A610P	TRIM25_ENST00000537230.1_Missense_Mutation_p.A610P|MIR3614_ENST00000581261.1_RNA|TRIM25_ENST00000573108.1_5'Flank|RP11-670E13.5_ENST00000574826.1_RNA	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN	tripartite motif containing 25	610	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|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 ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)|response to estrogen (GO:0043627)|response to vitamin D (GO:0033280)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					GGGTACAAAGCCTCAGTAAAG	0.547																																																0													58	50	53					17																	54969126		2203	4300	6503	SO:0001583	missense	7706			D21205	CCDS11591.1	17q23.1	2013-01-09	2011-01-25	2004-03-30				"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	12932	protein-coding gene	gene with protein product		600453	"zinc finger protein 147 (estrogen-responsive finger protein)", "tripartite motif-containing 25"	ZNF147		7789997	Standard	NM_005082		Approved	EFP, RNF147	uc002iut.3	Q14258		ENST00000316881.4:c.1828G>C	chr17.hg19:g.54969126C>G	ENSP00000323889:p.Ala610Pro			Missense_Mutation	SNP	ENST00000316881.4	hg19	CCDS11591.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.967214	0.53507	.	.	ENSG00000121060	ENST00000316881;ENST00000537230	T;T	0.56103	0.48;0.48	4.87	4.87	0.63330	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.122762	0.36374	N	0.002631	T	0.44787	0.1310	N	0.02345	-0.59	0.58432	D	0.999993	D	0.89917	1.0	D	0.83275	0.996	T	0.43798	-0.9369	10	0.02654	T	1	.	18.0042	0.89205	0.0:1.0:0.0:0.0	.	610	Q14258	TRI25_HUMAN	P	610	ENSP00000323889:A610P;ENSP00000445961:A610P	ENSP00000323889:A610P	A	-	1	0	TRIM25	52324125	0.999000	0.42202	0.446000	0.26920	0.105000	0.19272	3.797000	0.55514	2.251000	0.74343	0.561000	0.74099	GCT		0.547	TRIM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440609.1	NM_005082		G	54969126	C	G	54969126	3	3	762	1	0	0	0	0	1	0	0	0	16504	739	26	4	68	4	TRIM25	17	54969126	Missense_Mutation	SNP	C	TCGA-MH-A55Z-01A-11D-A26P-10	14239880	54969126	26226084	78	44959											
SLC38A10	124565	hgsc.bcm.edu	37	17	79225020	79225080	+	Intron	DEL	GGGGAGCAAGGGAGATAAAACGGTAATCACAAGCCATGTGACGATGCCGCAGGTGTTTAAA	GGGGAGCAAGGGAGATAAAACGGTAATCACAAGCCATGTGACGATGCCGCAGGTGTTTAAA	-	rs142504417|rs113882474|rs67972063|rs113562695|rs557587675|rs116990218|rs374319971|rs386799869|rs147245242|rs565704741|rs140396168	byFrequency	TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	GGGGAGCAAGGGAGATAAAACGGTAATCACAAGCCATGTGACGATGCCGCAGGTGTTTAAA	GGGGAGCAAGGGAGATAAAACGGTAATCACAAGCCATGTGACGATGCCGCAGGTGTTTAAA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr17:79225020_79225080delGGGGAGCAAGGGAGATAAAACGGTAATCACAAGCCATGTGACGATGCCGCAGGTGTTTAAA	ENST00000374759.3	-	14	2449				SLC38A10_ENST00000288439.5_Frame_Shift_Del_p.FKHLRHRHMACDYRFISLAPL760fs	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10						amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.K761fs*>20(1)		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)			GTGTTTTAAAGGGGAGCAAGGGAGATAAAACGGTAATCACAAGCCATGTGACGATGCCGCAGGTGTTTAAAGGGGAGTAAG	0.483																																																1	Deletion - Frameshift(1)	skin(1)																																								SO:0001627	intron_variant	124565			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.2065+212TTTAAACACCTGCGGCATCGTCACATGGCTTGTGATTACCGTTTTATCTCCCTTGCTCCCC>-	chr17.hg19:g.79225020_79225080delGGGGAGCAAGGGAGATAAAACGGTAATCACAAGCCATGTGACGATGCCGCAGGTGTTTAAA			Q6ZRC5|Q8NA99|Q96C66	Frame_Shift_Del	DEL	ENST00000374759.3	hg19	CCDS42397.1																																																																																				0.483	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397747.1	NM_138570		-	79225080	GGGGAGCAAGGGAGATAAAACGGTAATCACAAGCCATGTGACGATGCCGCAGGTGTTTAAA	-	79225020	6	5	762	0	1	1	0	1	0	0	0	0	14608	1000	35	0		0	SLC38A10	17	79225020	Intron	DEL	GGGGAGCAAGGGAGATAAAACGGTAATCACAAGCCATGTGACGATGCCGCAGGTGTTTAAA	TCGA-MH-A55Z-01A-11D-A26P-10	24255894	79225020	1970190	79	44960											
LAMA3	3909	hgsc.bcm.edu	37	18	21508090	21508090	+	Silent	SNP	T	T	C			TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr18:21508090T>C	ENST00000313654.9	+	63	8422	c.8181T>C	c.(8179-8181)ttT>ttC	p.F2727F	LAMA3_ENST00000587184.1_Silent_p.F1062F|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000269217.6_Silent_p.F1118F|LAMA3_ENST00000399516.3_Silent_p.F2671F	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2727	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					TAATCAGATTTAACATTTCTA	0.408																																																0													114	97	103					18																	21508090		2203	4300	6503	SO:0001819	synonymous_variant	3909			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"Laminins"	6483	protein-coding gene	gene with protein product		600805	"laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.8181T>C	chr18.hg19:g.21508090T>C			B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Silent	SNP	ENST00000313654.9	hg19	CCDS42419.1																																																																																				0.408	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		C	21508090	T	C	21508090	2	2	762	1	0	0	0	0	0	0	0	1	8609	1751	61	3		3	LAMA3	18	21508090	Silent	SNP	T	TCGA-MH-A55Z-01A-11D-A26P-10		21508090	56569158	80	44961											
ZNF407	55628	hgsc.bcm.edu	37	18	72345617	72345618	+	Missense_Mutation	DNP	GC	GC	AT			TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr18:72345617_72345618GC>AT	ENST00000299687.5	+	1	2642_2643	c.2642_2643GC>AT	c.(2641-2643)tGC>tAT	p.C881Y	ZNF407_ENST00000582337.1_Missense_Mutation_p.C881Y|ZNF407_ENST00000577538.1_Missense_Mutation_p.C881Y|ZNF407_ENST00000309902.6_Missense_Mutation_p.C881Y	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	881					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)		AGTTATTTATGCAAAGTGTGTA	0.401																																																0																																										SO:0001583	missense	55628			AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"Zinc fingers, C2H2-type"	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		Exception_encountered	chr18.hg19:g.72345617_72345618delinsAT	ENSP00000299687:p.Cys881Tyr		B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation|Silent	SNP	ENST00000299687.5	hg19	CCDS45885.1																																																																																				0.401	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		AT	72345618	GC	AT	72345617	3	1	762	1	0	0	0	0	1	0	0	0	17892	1319	46	2	2644	2	ZNF407	18	72345617	Missense_Mutation	DNP	GC	TCGA-MH-A55Z-01A-11D-A26P-10	50837527	72345617	5731631	81	44962											
SMARCA4	6597	hgsc.bcm.edu	37	19	11134305	11134305	+	Missense_Mutation	SNP	A	A	G			TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr19:11134305A>G	ENST00000429416.3	+	21	3252	c.2971A>G	c.(2971-2973)Aag>Gag	p.K991E	SMARCA4_ENST00000344626.4_Missense_Mutation_p.K991E|SMARCA4_ENST00000589677.1_Missense_Mutation_p.K991E|SMARCA4_ENST00000444061.3_Missense_Mutation_p.K991E|SMARCA4_ENST00000358026.2_Missense_Mutation_p.K991E|SMARCA4_ENST00000413806.3_Missense_Mutation_p.K991E|SMARCA4_ENST00000590574.1_Missense_Mutation_p.K991E|SMARCA4_ENST00000450717.3_Missense_Mutation_p.K991E|SMARCA4_ENST00000541122.2_Missense_Mutation_p.K991E	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	991					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)				GTTGCCCGAAAAGGTGATGGA	0.607			"F, N, Mis"		NSCLC																																		Rec	yes		19	19p13.2	6597	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"		E	1	Unknown(1)	lung(1)											37	34	35					19																	11134305		2202	4299	6501	SO:0001583	missense	6597			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4"	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.2971A>G	chr19.hg19:g.11134305A>G	ENSP00000395654:p.Lys991Glu		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	hg19	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.303884	0.81136	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.94576	-3.46;-3.46;-3.46;-3.46;-3.46;-3.46;-3.46	4.9	4.9	0.64082	SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.98601	0.9532	H	0.99705	4.715	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.999;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.996;0.996;0.996;0.992;0.981;0.999;0.996;0.996	D	0.99004	1.0812	10	0.87932	D	0	-39.7655	13.6333	0.62208	1.0:0.0:0.0:0.0	.	991;991;991;991;991;211;991;991	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;A7E2E1;P51532	.;.;.;.;.;.;.;SMCA4_HUMAN	E	991;991;1055;991;991;991;991;991	ENSP00000395654:K991E;ENSP00000350720:K991E;ENSP00000343896:K991E;ENSP00000445036:K991E;ENSP00000392837:K991E;ENSP00000397783:K991E;ENSP00000414727:K991E	ENSP00000343896:K991E	K	+	1	0	SMARCA4	10995305	1.000000	0.71417	0.964000	0.40570	0.535000	0.34838	8.855000	0.92236	2.055000	0.61198	0.533000	0.62120	AAG		0.607	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		G	11134305	A	G	11134305	3	3	762	1	0	0	0	0	1	0	0	0	14776	15	1	3	3045	3	SMARCA4	19	11134305	Missense_Mutation	SNP	A	TCGA-MH-A55Z-01A-11D-A26P-10		11134305	47994678	82	44963											
CYP2A13	1553	hgsc.bcm.edu	37	19	41599643	41599643	+	Missense_Mutation	SNP	T	T	G			TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr19:41599643T>G	ENST00000330436.3	+	6	940	c.940T>G	c.(940-942)Ttc>Gtc	p.F314V		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	314					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)	GCGCTACGGTTTCCTGCTGCT	0.567																																																0													89	77	81					19																	41599643		2203	4300	6503	SO:0001583	missense	1553			U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838		"Cytochrome P450s"	2608	protein-coding gene	gene with protein product		608055	"cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"			7668294, 15128046	Standard	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.940T>G	chr19.hg19:g.41599643T>G	ENSP00000332679:p.Phe314Val		Q53YR8|Q6R569|Q6R570|Q9H2X2	Missense_Mutation	SNP	ENST00000330436.3	hg19	CCDS12571.1	.	.	.	.	.	.	.	.	.	.	.	12.81	2.049285	0.36181	.	.	ENSG00000197838	ENST00000330436	T	0.70045	-0.45	4.58	4.58	0.56647	.	0.157726	0.43919	D	0.000512	T	0.63698	0.2533	N	0.17082	0.46	0.29694	N	0.840704	P	0.51537	0.946	P	0.61003	0.882	T	0.62310	-0.6881	10	0.66056	D	0.02	.	8.6585	0.34077	0.1706:0.0:0.0:0.8293	.	314	Q16696	CP2AD_HUMAN	V	314	ENSP00000332679:F314V	ENSP00000332679:F314V	F	+	1	0	CYP2A13	46291483	0.124000	0.22315	0.995000	0.50966	0.015000	0.08874	0.497000	0.22514	1.945000	0.56424	0.397000	0.26171	TTC		0.567	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463505.1	NM_000766		G	41599643	T	G	41599643	3	3	762	1	0	0	0	0	1	0	0	0	4163	1841	64	5	962	5	CYP2A13	19	41599643	Missense_Mutation	SNP	T	TCGA-MH-A55Z-01A-11D-A26P-10	30465338	41599643	17529340	83	44964											
C20orf117	140710	hgsc.bcm.edu	37	20	35438421	35438421	+	Missense_Mutation	SNP	C	C	G			TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr20:35438421C>G	ENST00000357779.3	-	7	2159	c.1833G>C	c.(1831-1833)aaG>aaC	p.K611N	SOGA1_ENST00000456801.2_Missense_Mutation_p.K452N|SOGA1_ENST00000279034.6_Missense_Mutation_p.K611N|SOGA1_ENST00000237536.4_Missense_Mutation_p.K849N			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	611					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						CGGCCTCCTCCTTTCGTAGCT	0.602																																																0													30	32	31					20																	35438421		1994	4177	6171	SO:0001583	missense	140710			AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"suppressor of glucose by autophagy", "suppressor of glucose from autophagy"		"chromosome 20 open reading frame 117", "KIAA0889"	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.1833G>C	chr20.hg19:g.35438421C>G	ENSP00000350424:p.Lys611Asn		A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Missense_Mutation	SNP	ENST00000357779.3	hg19		.	.	.	.	.	.	.	.	.	.	C	19.13	3.768785	0.69878	.	.	ENSG00000149639	ENST00000237536;ENST00000279034;ENST00000456801;ENST00000357779	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.15	0.757	0.18427	.	0.174867	0.47852	D	0.000216	T	0.30417	0.0764	L	0.36672	1.1	0.34718	D	0.728409	P	0.51351	0.944	B	0.44163	0.443	T	0.38564	-0.9655	10	0.31617	T	0.26	-53.0208	8.3632	0.32372	0.0:0.5833:0.0:0.4167	.	611	O94964-4	.	N	849;611;452;611	ENSP00000237536:K849N;ENSP00000279034:K611N;ENSP00000413886:K452N;ENSP00000350424:K611N	ENSP00000237536:K849N	K	-	3	2	KIAA0889	34871835	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	0.612000	0.24283	0.319000	0.23209	0.561000	0.74099	AAG		0.602	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181		G	35438421	C	G	35438421	3	3	762	1	0	0	0	0	1	0	0	0	2085	680	24	4	2536	4	C20orf117	20	35438421	Missense_Mutation	SNP	C	TCGA-MH-A55Z-01A-11D-A26P-10		35438421	27587099	84	44965											
NPEPL1	79716	hgsc.bcm.edu	37	20	57282247	57282247	+	Silent	SNP	A	A	C			TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr20:57282247A>C	ENST00000356091.6	+	7	1179	c.891A>C	c.(889-891)gcA>gcC	p.A297A	NPEPL1_ENST00000525967.1_Silent_p.A269A|NPEPL1_ENST00000525817.1_Silent_p.A249A|STX16-NPEPL1_ENST00000530122.1_3'UTR	NM_024663.3	NP_078939.3	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	297						cytoplasm (GO:0005737)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			TCAGAGCCGCAATCAAGCAGG	0.687																																																0													11	17	15					20																	57282247		1969	4059	6028	SO:0001819	synonymous_variant	79716			AK021645	CCDS46621.1, CCDS56200.1, CCDS56201.1	20q13.32	2008-07-02			ENSG00000215440	ENSG00000215440			16244	protein-coding gene	gene with protein product						14702039	Standard	NM_001204872		Approved	FLJ11583, bA261P9.2	uc010zzs.1	Q8NDH3	OTTHUMG00000033060	ENST00000356091.6:c.891A>C	chr20.hg19:g.57282247A>C			A6NGZ0|B4DMW7|B7ZBN0|E9PN47|G5EA34|Q53G37|Q5W083|Q8TF28|Q8WUI2|Q9H1T6|Q9HAI5	Silent	SNP	ENST00000356091.6	hg19	CCDS46621.1																																																																																				0.687	NPEPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080402.6	NM_024663		C	57282247	A	C	57282247	2	2	762	1	0	0	0	0	0	0	0	1	10576	117	5	5		5	NPEPL1	20	57282247	Silent	SNP	A	TCGA-MH-A55Z-01A-11D-A26P-10	21843826	57282247	5743273	85	44966											
BID	637	hgsc.bcm.edu	37	22	18226632	18226632	+	Missense_Mutation	SNP	A	A	G			TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chr22:18226632A>G	ENST00000399774.3	-	3	329	c.160T>C	c.(160-162)Tac>Cac	p.Y54H	BID_ENST00000551952.1_Missense_Mutation_p.Y54H|BID_ENST00000317361.7_Missense_Mutation_p.Y100H|BID_ENST00000399767.1_5'UTR|BID_ENST00000399765.1_Intron|BID_ENST00000342111.5_Missense_Mutation_p.Y54H|BID_ENST00000473439.1_5'UTR	NM_001196.3|NM_001244569.1	NP_001187.1|NP_001231498.1	P55957	BID_HUMAN	BH3 interacting domain death agonist	54					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|brain development (GO:0007420)|establishment of protein localization to membrane (GO:0090150)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|glial cell apoptotic process (GO:0034349)|intrinsic apoptotic signaling pathway (GO:0097193)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|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 protein homooligomerization (GO:0032464)|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 release of cytochrome c from mitochondria (GO:0090200)|protein homooligomerization (GO:0051260)|protein targeting to mitochondrion (GO:0006626)|regulation of cell proliferation (GO:0042127)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|release of cytochrome c from mitochondria (GO:0001836)|response to estradiol (GO:0032355)|signal transduction in response to DNA damage (GO:0042770)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of mitochondrial membrane (GO:0032592)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	death receptor binding (GO:0005123)			large_intestine(2)|ovary(1)	3		all_epithelial(15;0.198)		Lung(27;0.0419)		AGCTCATCGTAGCCCTCCCAC	0.632																																																0													49	50	50					22																	18226632		2203	4300	6503	SO:0001583	missense	637			AF042083	CCDS13747.1, CCDS13748.1, CCDS13749.1	22q11.2	2014-03-07			ENSG00000015475	ENSG00000015475		"Endogenous ligands"	1050	protein-coding gene	gene with protein product		601997				8918887, 9721221	Standard	NM_001244567		Approved		uc002znc.2	P55957	OTTHUMG00000150087	ENST00000399774.3:c.160T>C	chr22.hg19:g.18226632A>G	ENSP00000382674:p.Tyr54His		Q549M7|Q71T04|Q7Z4M9|Q8IY86	Missense_Mutation	SNP	ENST00000399774.3	hg19	CCDS13748.1	.	.	.	.	.	.	.	.	.	.	A	14.79	2.641884	0.47153	.	.	ENSG00000015475	ENST00000317361;ENST00000399774;ENST00000342111;ENST00000551952	T;T;T;T	0.21734	1.99;1.99;1.99;1.99	5.08	-10.2	0.00374	.	2.388480	0.01610	N	0.022462	T	0.11623	0.0283	L	0.29908	0.895	0.09310	N	0.999994	B;B	0.02656	0.0;0.0	B;B	0.10450	0.002;0.005	T	0.13818	-1.0495	10	0.14656	T	0.56	.	7.3234	0.26540	0.4392:0.3405:0.2203:0.0	.	54;100	P55957;P55957-2	BID_HUMAN;.	H	100;54;54;54	ENSP00000318822:Y100H;ENSP00000382674:Y54H;ENSP00000344594:Y54H;ENSP00000449236:Y54H	ENSP00000318822:Y100H	Y	-	1	0	BID	16606632	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-2.197000	0.01240	-1.410000	0.02035	-0.429000	0.05907	TAC		0.632	BID-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316178.1	NM_197966		G	18226632	A	G	18226632	3	3	762	1	0	0	0	0	1	0	0	0	1430	420	15	3	443	3	BID	22	18226632	Missense_Mutation	SNP	A	TCGA-MH-A55Z-01A-11D-A26P-10		18226632	33077934	86	44967											
SFRS17A	8227	hgsc.bcm.edu	37	X	1719998	1719998	+	Silent	SNP	C	C	T			TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chrX:1719998C>T	ENST00000313871.3	+	5	1795	c.1599C>T	c.(1597-1599)ccC>ccT	p.P533P		NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	533					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						GTGTGGTCCCCGAGGATGGCT	0.657													c|||	1	0.000199681	0.0	0.0	5008	,	,		14923	0.001		0.0	False		,,,				2504	0.0															0													57	56	56					X																	1719998		2203	4296	6499	SO:0001819	synonymous_variant	8227			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.1599C>T	chrX.hg19:g.1719998C>T			Q02832|Q2TB98|Q5JQ74|Q5JQ76|Q8N6U9	Silent	SNP	ENST00000313871.3	hg19	CCDS14116.1																																																																																				0.657	AKAP17A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055609.2	NM_005088		T	1719998	C	T	1719998	2	4	762	1	0	0	0	0	0	0	0	1	14179	639	23	1		1	SFRS17A	23	1719998	Silent	SNP	C	TCGA-MH-A55Z-01A-11D-A26P-10		1719998	153550562	87	44968											
LPAR4	2846	hgsc.bcm.edu	37	X	78010716	78010716	+	Missense_Mutation	SNP	C	C	A			TCGA-MH-A55Z-01A-11D-A26P-10	TCGA-MH-A55Z-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b19ec4cd-2876-4a2b-bcb9-b3c8db54fc15	3d292f02-ebb2-457b-b5a3-1590b60833a6	g.chrX:78010716C>A	ENST00000435339.3	+	2	736	c.350C>A	c.(349-351)gCa>gAa	p.A117E		NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	117					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)|lipid binding (GO:0008289)			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						TCTGGAACTGCATTCCTTACC	0.423																																																0													190	152	165					X																	78010716		2203	4299	6502	SO:0001583	missense	2846			U90322	CCDS14441.1	Xq21.1	2012-08-08	2008-04-11	2008-04-11	ENSG00000147145	ENSG00000147145		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	4478	protein-coding gene	gene with protein product		300086	"G protein-coupled receptor 23"	GPR23			Standard	NM_005296		Approved	P2Y9, P2Y5-LIKE, P2RY9, LPA4	uc010nme.3	Q99677	OTTHUMG00000021895	ENST00000435339.3:c.350C>A	chrX.hg19:g.78010716C>A	ENSP00000408205:p.Ala117Glu		B2RAC7|O15132|Q502U9|Q6NSP5	Missense_Mutation	SNP	ENST00000435339.3	hg19	CCDS14441.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.002367	0.54254	.	.	ENSG00000147145	ENST00000435339;ENST00000373301	T;T	0.38077	1.16;1.16	4.21	4.21	0.49690	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.59293	0.2183	M	0.80183	2.485	0.50171	D	0.999859	D	0.63880	0.993	D	0.63877	0.919	T	0.66771	-0.5839	10	0.72032	D	0.01	.	14.3969	0.67018	0.0:1.0:0.0:0.0	.	117	Q99677	LPAR4_HUMAN	E	117	ENSP00000408205:A117E;ENSP00000362398:A117E	ENSP00000362398:A117E	A	+	2	0	LPAR4	77897372	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	4.452000	0.60054	1.943000	0.56356	0.422000	0.28245	GCA		0.423	LPAR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057322.2	NM_005296		A	78010716	C	A	78010716	3	1	762	1	0	0	0	0	1	0	0	0	8909	710	25	4	352	4	LPAR4	23	78010716	Missense_Mutation	SNP	C	TCGA-MH-A55Z-01A-11D-A26P-10	76290718	78010716	77259844	88	44969											
MECR	51102	hgsc.bcm.edu	37	1	29557328	29557328	+	Missense_Mutation	SNP	C	C	T			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr1:29557328C>T	ENST00000263702.6	-	1	116	c.91G>A	c.(91-93)Gcc>Acc	p.A31T	MECR_ENST00000489248.1_5'UTR|MECR_ENST00000373791.3_5'UTR			Q9BV79	MECR_HUMAN	mitochondrial trans-2-enoyl-CoA reductase	31					fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		TAGGAGGAGGCGGCAGGTCCG	0.701																																																0													9	12	11					1																	29557328		2186	4279	6465	SO:0001583	missense	51102				CCDS30659.1, CCDS30660.1	1p35.3	2012-09-20			ENSG00000116353	ENSG00000116353	1.3.1.38		19691	protein-coding gene	gene with protein product	"nuclear receptor binding factor 1", "mitochondrial 2-enoyl thioester reductase"	608205				9795230, 12654921	Standard	XM_005245885		Approved	CGI-63, NRBF1, FASN2B	uc001brq.1	Q9BV79	OTTHUMG00000059082	ENST00000263702.6:c.91G>A	chr1.hg19:g.29557328C>T	ENSP00000263702:p.Ala31Thr		B3KT72|Q5SYU0|Q5SYU1|Q5SYU2|Q6IBU9|Q9Y373	Missense_Mutation	SNP	ENST00000263702.6	hg19	CCDS30659.1	.	.	.	.	.	.	.	.	.	.	C	13.00	2.106638	0.37145	.	.	ENSG00000116353	ENST00000263702	T	0.03496	3.91	4.92	-0.97	0.10306	.	1.626230	0.03313	N	0.190804	T	0.02807	0.0084	N	0.19112	0.55	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.44817	-0.9303	9	.	.	.	.	4.5591	0.12151	0.5172:0.3021:0.0:0.1807	.	31	Q9BV79	MECR_HUMAN	T	31	ENSP00000263702:A31T	.	A	-	1	0	MECR	29429915	0.000000	0.05858	0.002000	0.10522	0.434000	0.31775	-1.074000	0.03427	-0.262000	0.09392	-0.140000	0.14226	GCC		0.701	MECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130740.1	NM_016011		T	29557328	C	T	29557328	3	4	763	1	0	0	0	0	1	0	0	0	9426	768	27	1	1070	1	MECR	1	29557328	Missense_Mutation	SNP	C	TCGA-MH-A560-01A-11D-A26P-10		29557328	219693293	1	44970											
EIF2C3	192669	hgsc.bcm.edu	37	1	36475164	36475164	+	Missense_Mutation	SNP	C	C	T			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr1:36475164C>T	ENST00000373191.4	+	9	1467	c.1118C>T	c.(1117-1119)gCa>gTa	p.A373V	RP4-665N4.8_ENST00000479395.2_RNA|AGO3_ENST00000246314.6_Missense_Mutation_p.A139V|RP4-665N4.8_ENST00000466576.2_RNA	NM_024852.3	NP_079128.2	Q9H9G7	AGO3_HUMAN	argonaute RISC catalytic component 3	373					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of stem cell proliferation (GO:0072091)	cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)										GCAAGATCTGCACCAGATAGA	0.378																																																0													105	98	100					1																	36475164		2203	4300	6503	SO:0001583	missense	192669			AB046787	CCDS399.1, CCDS400.1	1p34	2013-06-03	2013-02-15	2013-02-15	ENSG00000126070	ENSG00000126070		"Argonaute/PIWI family"	18421	protein-coding gene	gene with protein product	"argonaute 3"	607355	"eukaryotic translation initiation factor 2C, 3"	EIF2C3		12906857	Standard	NM_024852		Approved	hAGO3, FLJ12765	uc001bzp.3	Q9H9G7	OTTHUMG00000184172	ENST00000373191.4:c.1118C>T	chr1.hg19:g.36475164C>T	ENSP00000362287:p.Ala373Val		B1ALI0|Q5TA55|Q9H1U6	Missense_Mutation	SNP	ENST00000373191.4	hg19	CCDS399.1	.	.	.	.	.	.	.	.	.	.	C	36	5.888335	0.97068	.	.	ENSG00000126070	ENST00000373191;ENST00000246314	T;T	0.10960	2.82;2.82	6.17	6.17	0.99709	Argonaute/Dicer protein, PAZ (1);	0.000000	0.85682	D	0.000000	T	0.45135	0.1327	M	0.93283	3.4	0.80722	D	1	D	0.71674	0.998	P	0.62491	0.903	T	0.55023	-0.8205	10	0.87932	D	0	-12.0124	20.8794	0.99867	0.0:1.0:0.0:0.0	.	373	Q9H9G7	AGO3_HUMAN	V	373;139	ENSP00000362287:A373V;ENSP00000246314:A139V	ENSP00000246314:A139V	A	+	2	0	EIF2C3	36247751	1.000000	0.71417	0.995000	0.50966	0.982000	0.71751	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GCA		0.378	AGO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019831.4	NM_024852		T	36475164	C	T	36475164	3	4	763	1	0	0	0	0	1	0	0	0	5009	710	25	2	1152	2	EIF2C3	1	36475164	Missense_Mutation	SNP	C	TCGA-MH-A560-01A-11D-A26P-10	6917836	36475164	212775457	2	44971											
INTS3	65123	hgsc.bcm.edu	37	1	153740253	153740253	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr1:153740253G>T	ENST00000318967.2	+	21	2762	c.2194G>T	c.(2194-2196)Gag>Tag	p.E732*	INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000512605.1_Nonsense_Mutation_p.E526*|INTS3_ENST00000435409.2_Nonsense_Mutation_p.E732*|INTS3_ENST00000456435.1_Nonsense_Mutation_p.E526*	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	733					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)			GGCCTGCCAGGAGGACGATGT	0.612																																																0													113	94	100					1																	153740253		2203	4300	6503	SO:0001587	stop_gained	65123			BX640950	CCDS1052.1	1q21.3	2012-03-16	2006-03-15	2006-03-15	ENSG00000143624	ENSG00000143624			26153	protein-coding gene	gene with protein product	"sensor of single-strand DNA complex subunit A"	611347	"chromosome 1 open reading frame 60"	C1orf60		16239144	Standard	NM_023015		Approved	FLJ21919, INT3, SOSS-A	uc001fct.3	Q68E01	OTTHUMG00000037089	ENST00000318967.2:c.2194G>T	chr1.hg19:g.153740253G>T	ENSP00000318641:p.Glu732*		A8K1W0|B4DQC8|B4E3U9|D3DV57|Q4G0E5|Q5VUQ5|Q5VUQ6|Q5VUR0|Q5VUR1|Q68DJ1|Q69YR5|Q6AI57|Q6DKG7|Q6MZQ4|Q6MZZ9|Q8NC46|Q8TB23|Q9H6S9	Nonsense_Mutation	SNP	ENST00000318967.2	hg19	CCDS1052.1	.	.	.	.	.	.	.	.	.	.	G	42	9.404468	0.99161	.	.	ENSG00000143624	ENST00000318967;ENST00000456435;ENST00000435409;ENST00000512605	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	15.6279	0.76878	0.0:0.0:1.0:0.0	.	.	.	.	X	732;526;732;526	.	ENSP00000318641:E732X	E	+	1	0	INTS3	152006877	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	9.055000	0.93873	2.768000	0.95171	0.561000	0.74099	GAG		0.612	INTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090045.2	NM_023015		T	153740253	G	T	153740253	4	4	763	1	0	0	0	0	0	1	0	0	7781	1175	41	4	2276	4	INTS3	1	153740253	Nonsense_Mutation	SNP	G	TCGA-MH-A560-01A-11D-A26P-10	117265089	153740253	95510368	3	44972											
CFH	3075	hgsc.bcm.edu	37	1	196654324	196654324	+	Silent	SNP	A	A	G	rs1061147	byFrequency	TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr1:196654324A>G	ENST00000359637.2	+	6	791	c.729A>G	c.(727-729)gcA>gcG	p.A243A	CFH_ENST00000439155.2_Silent_p.A307A|CFH_ENST00000367429.4_Silent_p.A307A			P08603	CFAH_HUMAN	complement factor H	307	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						GAAATACAGCAAAATGCACAA	0.393																																																0			GRCh37	CM057396	CFH	M	rs1061147						119	108	112					1																	196654324		2203	4300	6503	SO:0001819	synonymous_variant	3075			Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"Complement system"	4883	protein-coding gene	gene with protein product	"beta-1H", "H factor 2 (complement)", "age-related maculopathy susceptibility 1"	134370	"H factor 1 (complement)"	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000359637.2:c.729A>G	chr1.hg19:g.196654324A>G			A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Silent	SNP	ENST00000359637.2	hg19																																																																																					0.393	CFH-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000087502.1	NM_000186		G	196654324	A	G	196654324	2	3	763	1	0	0	0	0	0	0	0	1	3285	117	5	3		3	CFH	1	196654324	Silent	SNP	A	TCGA-MH-A560-01A-11D-A26P-10	42914071	196654324	52596297	4	44973											
PTPRC	5788	hgsc.bcm.edu	37	1	198678922	198678922	+	Silent	SNP	C	C	T	rs200643724		TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr1:198678922C>T	ENST00000367376.2	+	11	1305	c.1134C>T	c.(1132-1134)aaC>aaT	p.N378N	PTPRC_ENST00000352140.3_Silent_p.N330N|PTPRC_ENST00000594404.1_Silent_p.N217N|PTPRC_ENST00000348564.6_Silent_p.N219N|PTPRC_ENST00000442510.2_Silent_p.N380N	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	378					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						AGTTTACTAACGCAAGTAAAA	0.269																																																0								C	,	0,4398		0,0,2199	74	89	84		1134,651	-9	0	1		84	2,8534	2.2+/-6.3	0,2,4266	no	coding-synonymous,coding-synonymous	PTPRC	NM_002838.3,NM_080921.2	,	0,2,6465	TT,TC,CC		0.0234,0.0,0.0155	,	378/1305,217/1144	198678922	2,12932	2199	4268	6467	SO:0001819	synonymous_variant	5788			Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.1134C>T	chr1.hg19:g.198678922C>T			A8K7W6|Q16614|Q9H0Y6	Silent	SNP	ENST00000367376.2	hg19																																																																																					0.269	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				T	198678922	C	T	198678922	2	4	763	1	0	0	0	0	0	0	0	1	12803	535	19	1		1	PTPRC	1	198678922	Silent	SNP	C	TCGA-MH-A560-01A-11D-A26P-10	2024598	198678922	50571699	5	44974											
GPR37L1	9283	hgsc.bcm.edu	37	1	202097357	202097357	+	Silent	SNP	C	C	T			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr1:202097357C>T	ENST00000367282.5	+	2	1225	c.1119C>T	c.(1117-1119)ctC>ctT	p.L373L		NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN	G protein-coupled receptor 37 like 1	373					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						TCTGCACCCTCCCAGAGAACG	0.622																																																0													157	139	145					1																	202097357		2203	4300	6503	SO:0001819	synonymous_variant	9283			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.1119C>T	chr1.hg19:g.202097357C>T			B2R7M9|Q5SXP7|Q86VP7	Silent	SNP	ENST00000367282.5	hg19	CCDS1420.1																																																																																				0.622	GPR37L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087496.2	NM_004767		T	202097357	C	T	202097357	2	4	763	1	0	0	0	0	0	0	0	1	6694	842	30	2		2	GPR37L1	1	202097357	Silent	SNP	C	TCGA-MH-A560-01A-11D-A26P-10	3418435	202097357	47153264	6	44975											
RCOR3	55758	hgsc.bcm.edu	37	1	211449723	211449723	+	Missense_Mutation	SNP	G	G	C			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr1:211449723G>C	ENST00000367005.4	+	4	446	c.305G>C	c.(304-306)aGt>aCt	p.S102T	RCOR3_ENST00000419091.2_Missense_Mutation_p.S160T|RCOR3_ENST00000452621.2_Missense_Mutation_p.S160T|RCOR3_ENST00000367006.4_Missense_Mutation_p.S160T	NM_018254.3	NP_060724.1	Q9P2K3	RCOR3_HUMAN	REST corepressor 3	102	SANT 1. {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)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		CAAGCCTTTAGTTTTCATGGA	0.363																																																0													164	162	163					1																	211449723		2203	4300	6503	SO:0001583	missense	55758			AK001738	CCDS31016.1, CCDS44312.1, CCDS44313.1, CCDS44314.1	1q32.3	2008-02-05			ENSG00000117625	ENSG00000117625			25594	protein-coding gene	gene with protein product						10718198	Standard	NM_018254		Approved	FLJ10876	uc010psw.2	Q9P2K3	OTTHUMG00000036996	ENST00000367005.4:c.305G>C	chr1.hg19:g.211449723G>C	ENSP00000355972:p.Ser102Thr		B3KYA2|B4DYY7|Q5VT47|Q7L9I5|Q8N5U3|Q9NV83	Missense_Mutation	SNP	ENST00000367005.4	hg19	CCDS31016.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.435982	0.83885	.	.	ENSG00000117625	ENST00000533469;ENST00000367006;ENST00000452621;ENST00000419091;ENST00000367005	T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6	5.02	5.02	0.67125	SANT domain, DNA binding (1);Homeodomain-like (1);SANT, eukarya (1);	0.000000	0.85682	D	0.000000	T	0.45377	0.1339	L	0.35542	1.07	0.80722	D	1	D;B;B;B	0.56035	0.974;0.065;0.364;0.389	D;B;B;B	0.70487	0.969;0.066;0.341;0.198	T	0.21177	-1.0253	9	.	.	.	-4.1499	18.6937	0.91593	0.0:0.0:1.0:0.0	.	160;102;160;160	Q9P2K3-3;Q9P2K3;Q9P2K3-2;Q9P2K3-4	.;RCOR3_HUMAN;.;.	T	102;160;160;160;102	ENSP00000436838:S102T;ENSP00000355973:S160T;ENSP00000398558:S160T;ENSP00000413929:S160T;ENSP00000355972:S102T	.	S	+	2	0	RCOR3	209516346	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.639000	0.98448	2.495000	0.84180	0.484000	0.47621	AGT		0.363	RCOR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089821.1	NM_018254		C	211449723	G	C	211449723	3	2	763	1	0	0	0	0	1	0	0	0	13190	1029	36	4	497	4	RCOR3	1	211449723	Missense_Mutation	SNP	G	TCGA-MH-A560-01A-11D-A26P-10	9352366	211449723	37800898	7	44976											
CENPF	1063	hgsc.bcm.edu	37	1	214815375	214815375	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr1:214815375G>T	ENST00000366955.3	+	12	3862	c.3694G>T	c.(3694-3696)Gag>Tag	p.E1232*		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)	p.E1232*(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GAAGGAGAAGGAGTGCCTGCA	0.373																																					Colon(80;575 1284 11000 14801 43496)											1	Substitution - Nonsense(1)	lung(1)											42	46	45					1																	214815375		2203	4298	6501	SO:0001587	stop_gained	1063			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"mitosin"	600236	"centromere protein F, 350/400kDa (mitosin)"			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.3694G>T	chr1.hg19:g.214815375G>T	ENSP00000355922:p.Glu1232*		Q13171|Q13246|Q5VVM7	Nonsense_Mutation	SNP	ENST00000366955.3	hg19	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	G	42	9.517275	0.99193	.	.	ENSG00000117724	ENST00000366955	.	.	.	5.17	2.19	0.27852	.	1.270870	0.05898	N	0.629477	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	6.3943	0.21603	0.1645:0.1498:0.6857:0.0	.	.	.	.	X	1232	.	ENSP00000355922:E1232X	E	+	1	0	CENPF	212881998	0.848000	0.29623	0.000000	0.03702	0.898000	0.52572	0.913000	0.28611	0.168000	0.19655	0.511000	0.50034	GAG		0.373	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		T	214815375	G	T	214815375	4	4	763	1	0	0	0	0	0	1	0	0	3233	1175	41	4	3736	4	CENPF	1	214815375	Nonsense_Mutation	SNP	G	TCGA-MH-A560-01A-11D-A26P-10	3365652	214815375	34435246	8	44977											
SNAP47	116841	hgsc.bcm.edu	37	1	227946738	227946738	+	Missense_Mutation	SNP	C	C	A			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr1:227946738C>A	ENST00000366759.4	+	3	1089	c.675C>A	c.(673-675)agC>agA	p.S225R	SNAP47_ENST00000366760.1_5'UTR|SNAP47_ENST00000315781.5_Missense_Mutation_p.S225R	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	225					long-term synaptic potentiation (GO:0060291)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						GGCCCTTTAGCTCCAAGCTTT	0.433																																																0													86	94	91					1																	227946738		2203	4300	6503	SO:0001583	missense	116841			AY090635	CCDS1562.1	1q42.13	2013-10-11	2008-10-27	2008-10-27	ENSG00000143740	ENSG00000143740			30669	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 142"	C1orf142		16621800	Standard	NM_053052		Approved	SVAP1, SNAP-47	uc001hrf.2	Q5SQN1	OTTHUMG00000037697	ENST00000366759.4:c.675C>A	chr1.hg19:g.227946738C>A	ENSP00000355721:p.Ser225Arg		B6EDE0|Q5HYB5|Q5TBZ3|Q8N558|Q8TB31|Q8TCW8|Q8WV46|Q96CQ3|Q96FE1|Q96I66|Q96NU3|Q9BT10|Q9BVB2	Missense_Mutation	SNP	ENST00000366759.4	hg19	CCDS1562.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.74|10.74	1.434984|1.434984	0.25813|0.25813	.|.	.|.	ENSG00000143740|ENSG00000143740	ENST00000418653;ENST00000426344|ENST00000366759;ENST00000315781	.|T;T	.|0.17054	.|2.3;2.3	4.95|4.95	0.434|0.434	0.16539|0.16539	.|.	.|0.129162	.|0.64402	.|D	.|0.000001	T|T	0.31231|0.31231	0.0790|0.0790	M|M	0.78637|0.78637	2.42|2.42	0.30113|0.30113	N|N	0.8064|0.8064	.|D;D	.|0.67145	.|0.989;0.996	.|P;P	.|0.61201	.|0.885;0.885	T|T	0.20638|0.20638	-1.0269|-1.0269	5|10	.|0.26408	.|T	.|0.33	-7.4349|-7.4349	8.0504|8.0504	0.30575|0.30575	0.0:0.4696:0.0:0.5304|0.0:0.4696:0.0:0.5304	.|.	.|225;225	.|Q5SQN1;Q5SQN1-2	.|SNP47_HUMAN;.	I|R	38;217|225	.|ENSP00000355721:S225R;ENSP00000314157:S225R	.|ENSP00000314157:S225R	L|S	+|+	1|3	0|2	SNAP47|SNAP47	226013361|226013361	0.994000|0.994000	0.37717|0.37717	0.678000|0.678000	0.29963|0.29963	0.565000|0.565000	0.35776|0.35776	0.206000|0.206000	0.17375|0.17375	-0.047000|-0.047000	0.13423|0.13423	0.561000|0.561000	0.74099|0.74099	CTC|AGC		0.433	SNAP47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091961.1	NM_053052		A	227946738	C	A	227946738	3	1	763	1	0	0	0	0	1	0	0	0	14838	796	28	4	685	4	SNAP47	1	227946738	Missense_Mutation	SNP	C	TCGA-MH-A560-01A-11D-A26P-10	13131363	227946738	21303883	9	44978											
SDCCAG8	10806	hgsc.bcm.edu	37	1	243419490	243419490	+	Silent	SNP	G	G	A			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr1:243419490G>A	ENST00000366541.3	+	1	133	c.15G>A	c.(13-15)ccG>ccA	p.P5P	SDCCAG8_ENST00000391846.1_Silent_p.P5P|SDCCAG8_ENST00000355875.4_Silent_p.P5P|CEP170_ENST00000366544.1_5'Flank|CEP170_ENST00000366543.1_5'Flank|SDCCAG8_ENST00000343783.6_5'UTR|CEP170_ENST00000366542.1_5'Flank	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	5					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)		CGAAGTCCCCGGAGAACTCTA	0.617																																																0													78	79	78					1																	243419490		2203	4300	6503	SO:0001819	synonymous_variant	10806			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.15G>A	chr1.hg19:g.243419490G>A			O60527|Q3ZCR6|Q8N5F2|Q9P0F1	Silent	SNP	ENST00000366541.3	hg19	CCDS31075.1																																																																																				0.617	SDCCAG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096485.1	NM_006642		A	243419490	G	A	243419490	2	1	763	1	0	0	0	0	0	0	0	1	13965	1103	39	1		1	SDCCAG8	1	243419490	Silent	SNP	G	TCGA-MH-A560-01A-11D-A26P-10	15472752	243419490	5831131	10	44979											
MOGS	7841	hgsc.bcm.edu	37	2	74688599	74688599	+	Missense_Mutation	SNP	C	C	T			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr2:74688599C>T	ENST00000233616.4	-	4	2479	c.2317G>A	c.(2317-2319)Gag>Aag	p.E773K	MOGS_ENST00000462443.1_5'Flank|MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000452063.2_Missense_Mutation_p.E667K	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	773					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						TGAGGACCCTCCAGATGCCCA	0.592																																																0													80	88	85					2																	74688599		2075	4200	6275	SO:0001583	missense	7841			X87237	CCDS42700.1, CCDS54370.1	2p13.1	2012-01-31			ENSG00000115275	ENSG00000115275	3.2.1.106		24862	protein-coding gene	gene with protein product	"glucosidase I", "processing A-glucosidase I"	601336				7635146, 8786151	Standard	NM_006302		Approved	GCS1, CWH41, DER7	uc010ffj.3	Q13724	OTTHUMG00000152886	ENST00000233616.4:c.2317G>A	chr2.hg19:g.74688599C>T	ENSP00000233616:p.Glu773Lys		A8K938|F5H6D0|Q17RN9|Q8TCT5	Missense_Mutation	SNP	ENST00000233616.4	hg19	CCDS42700.1	.	.	.	.	.	.	.	.	.	.	C	7.668	0.686371	0.14973	.	.	ENSG00000115275	ENST00000233616;ENST00000452063	T;T	0.48522	0.81;0.81	4.48	0.633	0.17712	Six-hairpin glycosidase-like (1);	0.109437	0.64402	N	0.000010	T	0.35508	0.0934	L	0.55103	1.725	0.80722	D	1	B	0.06786	0.001	B	0.14023	0.01	T	0.14008	-1.0488	10	0.11794	T	0.64	-2.6164	8.6268	0.33895	0.0:0.6721:0.0:0.3279	.	773	Q13724	MOGS_HUMAN	K	773;667	ENSP00000233616:E773K;ENSP00000388201:E667K	ENSP00000233616:E773K	E	-	1	0	MOGS	74542107	0.580000	0.26733	0.793000	0.32043	0.621000	0.37620	1.175000	0.31944	0.004000	0.14682	-0.244000	0.11960	GAG		0.592	MOGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328382.1	NM_006302		T	74688599	C	T	74688599	3	4	763	1	0	0	0	0	1	0	0	0	9699	864	30	2	200	2	MOGS	2	74688599	Missense_Mutation	SNP	C	TCGA-MH-A560-01A-11D-A26P-10		74688599	168510774	11	44980											
ACMSD	130013	hgsc.bcm.edu	37	2	135621133	135621133	+	Missense_Mutation	SNP	G	G	A			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr2:135621133G>A	ENST00000356140.5	+	5	554	c.418G>A	c.(418-420)Ggg>Agg	p.G140R	ACMSD_ENST00000392928.1_Missense_Mutation_p.G82R|ACMSD_ENST00000283054.4_Missense_Mutation_p.G82R|AC016725.4_ENST00000392929.2_RNA	NM_138326.2	NP_612199.2	Q8TDX5	ACMSD_HUMAN	aminocarboxymuconate semialdehyde decarboxylase	140					cellular nitrogen compound metabolic process (GO:0034641)|quinolinate metabolic process (GO:0046874)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aminocarboxymuconate-semialdehyde decarboxylase activity (GO:0001760)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		GGGCTTTCCCGGGGTCCAAAT	0.632																																																0													71	58	62					2																	135621133		2203	4300	6503	SO:0001583	missense	130013			AB071418	CCDS2173.2	2q21.3	2008-03-11			ENSG00000153086	ENSG00000153086	4.1.1.45		19288	protein-coding gene	gene with protein product		608889				12140278	Standard	NM_138326		Approved		uc002ttz.3	Q8TDX5	OTTHUMG00000131711	ENST00000356140.5:c.418G>A	chr2.hg19:g.135621133G>A	ENSP00000348459:p.Gly140Arg		Q3B7X3|Q53SR5|Q96KY2	Missense_Mutation	SNP	ENST00000356140.5	hg19	CCDS2173.2	.	.	.	.	.	.	.	.	.	.	G	28.8	4.950082	0.92660	.	.	ENSG00000153086	ENST00000356140;ENST00000283054;ENST00000392928	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.90518	0.7029	H	0.97315	3.98	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93490	0.6835	9	0.87932	D	0	-10.2027	19.6085	0.95589	0.0:0.0:1.0:0.0	.	82;140	Q53SR5;Q8TDX5	.;ACMSD_HUMAN	R	140;82;82	.	ENSP00000283054:G82R	G	+	1	0	ACMSD	135337603	1.000000	0.71417	0.959000	0.39883	0.755000	0.42902	9.463000	0.97652	2.618000	0.88619	0.561000	0.74099	GGG		0.632	ACMSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254627.1			A	135621133	G	A	135621133	3	1	763	1	0	0	0	0	1	0	0	0	144	1116	39	1	436	1	ACMSD	2	135621133	Missense_Mutation	SNP	G	TCGA-MH-A560-01A-11D-A26P-10	60932534	135621133	107578240	12	44981											
SSFA2	6744	hgsc.bcm.edu	37	2	182774650	182774650	+	Missense_Mutation	SNP	C	C	G			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr2:182774650C>G	ENST00000431877.2	+	9	1617	c.1438C>G	c.(1438-1440)Cct>Gct	p.P480A	SSFA2_ENST00000428267.2_Missense_Mutation_p.P327A|SSFA2_ENST00000320370.7_Missense_Mutation_p.P480A|SSFA2_ENST00000409136.1_5'Flank|SSFA2_ENST00000409001.1_Missense_Mutation_p.P480A	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	480						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)			GGGAGAAGCTCCTCATGTTCC	0.368																																																0													71	62	65					2																	182774650		2203	4300	6503	SO:0001583	missense	6744			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.1438C>G	chr2.hg19:g.182774650C>G	ENSP00000388731:p.Pro480Ala		A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Missense_Mutation	SNP	ENST00000431877.2	hg19	CCDS46467.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.304280	0.81136	.	.	ENSG00000138434	ENST00000431877;ENST00000320370;ENST00000409001;ENST00000428267	T;T;T;T	0.15372	2.66;2.43;2.66;2.66	5.98	5.98	0.97165	.	0.175872	0.50627	D	0.000116	T	0.44138	0.1279	M	0.73598	2.24	0.58432	D	0.999993	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;0.997	T	0.04946	-1.0916	10	0.33141	T	0.24	-18.1989	18.6367	0.91380	0.0:1.0:0.0:0.0	.	327;480;480;480	E7END2;E9PHV5;P28290;P28290-3	.;.;SSFA2_HUMAN;.	A	480;480;480;327	ENSP00000388731:P480A;ENSP00000314669:P480A;ENSP00000387319:P480A;ENSP00000409867:P327A	ENSP00000314669:P480A	P	+	1	0	SSFA2	182482895	0.994000	0.37717	1.000000	0.80357	0.889000	0.51656	3.435000	0.52849	2.847000	0.97988	0.591000	0.81541	CCT		0.368	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255793.2	NM_006751		G	182774650	C	G	182774650	3	3	763	1	0	0	0	0	1	0	0	0	15188	855	30	4	1472	4	SSFA2	2	182774650	Missense_Mutation	SNP	C	TCGA-MH-A560-01A-11D-A26P-10	47153517	182774650	60424723	13	44982											
KCNH8	131096	hgsc.bcm.edu	37	3	19554559	19554559	+	Missense_Mutation	SNP	C	C	T			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr3:19554559C>T	ENST00000328405.2	+	13	2443	c.2177C>T	c.(2176-2178)tCc>tTc	p.S726F		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	726					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						gaggCAGTCTCCCTCTCTCCC	0.532																																					NSCLC(124;1625 1765 8018 24930 42026)											0													67	55	59					3																	19554559		2203	4300	6503	SO:0001583	missense	131096			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.2177C>T	chr3.hg19:g.19554559C>T	ENSP00000328813:p.Ser726Phe		B7Z2I7|Q59GQ6	Missense_Mutation	SNP	ENST00000328405.2	hg19	CCDS2632.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.441905	0.43326	.	.	ENSG00000183960	ENST00000328405	D	0.98792	-5.14	5.44	5.44	0.79542	.	0.000000	0.31709	U	0.007193	D	0.97495	0.9180	L	0.47716	1.5	0.80722	D	1	P	0.37158	0.585	B	0.42188	0.379	D	0.97417	1.0006	9	.	.	.	.	17.4503	0.87590	0.0:1.0:0.0:0.0	.	726	Q96L42	KCNH8_HUMAN	F	726	ENSP00000328813:S726F	.	S	+	2	0	KCNH8	19529563	0.164000	0.22935	0.087000	0.20705	0.252000	0.25951	1.912000	0.39946	2.559000	0.86315	0.585000	0.79938	TCC		0.532	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633		T	19554559	C	T	19554559	3	4	763	1	0	0	0	0	1	0	0	0	8040	855	30	2	2227	2	KCNH8	3	19554559	Missense_Mutation	SNP	C	TCGA-MH-A560-01A-11D-A26P-10		19554559	178467871	14	44983											
TRANK1	9881	hgsc.bcm.edu	37	3	36874430	36874430	+	Missense_Mutation	SNP	C	C	T	rs370553712		TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr3:36874430C>T	ENST00000429976.2	-	21	6759	c.6512G>A	c.(6511-6513)cGt>cAt	p.R2171H	TRANK1_ENST00000301807.6_Missense_Mutation_p.R1621H|TRANK1_ENST00000428977.2_Missense_Mutation_p.R1621H	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2171							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						GGCTTCACAACGCCGCAGAGG	0.438																																																0								C	HIS/ARG	0,3780		0,0,1890	32	32	32		6512	5.2	0.9	3		32	1,8203		0,1,4101	no	missense	TRANK1	NM_014831.2	29	0,1,5991	TT,TC,CC		0.0122,0.0,0.0083	probably-damaging	2171/2926	36874430	1,11983	1890	4102	5992	SO:0001583	missense	9881			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.6512G>A	chr3.hg19:g.36874430C>T	ENSP00000416168:p.Arg2171His		Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	hg19	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	C	15.37	2.812080	0.50527	0.0	1.22E-4	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.34667	1.35;1.76;1.35	5.16	5.16	0.70880	.	0.000000	0.48767	D	0.000162	T	0.40743	0.1129	L	0.34521	1.04	0.22156	N	0.999323	D	0.76494	0.999	P	0.57324	0.818	T	0.28459	-1.0043	10	0.72032	D	0.01	.	9.7288	0.40348	0.0:0.8452:0.0:0.1548	.	2171	O15050	TRNK1_HUMAN	H	1621;2171;1621	ENSP00000416826:R1621H;ENSP00000416168:R2171H;ENSP00000301807:R1621H	ENSP00000301807:R1621H	R	-	2	0	TRANK1	36849434	0.977000	0.34250	0.855000	0.33649	0.731000	0.41821	3.068000	0.50018	2.562000	0.86427	0.555000	0.69702	CGT		0.438	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		T	36874430	C	T	36874430	3	4	763	1	0	0	0	0	1	0	0	0	16459	536	19	1	2277	1	TRANK1	3	36874430	Missense_Mutation	SNP	C	TCGA-MH-A560-01A-11D-A26P-10	17319871	36874430	161148000	15	44984											
BAP1	8314	hgsc.bcm.edu	37	3	52439271	52439271	+	Frame_Shift_Del	DEL	G	G	-			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr3:52439271delG	ENST00000460680.1	-	11	1442	c.971delC	c.(970-972)ccafs	p.P324fs	BAP1_ENST00000296288.5_Frame_Shift_Del_p.P306fs	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P324fs*11(1)|p.A323fs*71(1)|p.P324fs*7(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		GCTGTGGGATGGGGCTTGTGC	0.592			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"																															GBM(101;493 1458 7992 21037 25532)		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	3	Deletion - Frameshift(3)	eye(1)|kidney(1)|pleura(1)											115	120	118					3																	52439271		2203	4300	6503	SO:0001589	frameshift_variant	8314			AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.971delC	chr3.hg19:g.52439271delG	ENSP00000417132:p.Pro324fs		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Frame_Shift_Del	DEL	ENST00000460680.1	hg19	CCDS2853.1																																																																																				0.592	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1			-	52439271	G	-	52439271	7	5	763	1	0	1	0	1	0	0	0	0	1311	1348	47	0	1246	0	BAP1	3	52439271	Frame_Shift_Del	DEL	G	TCGA-MH-A560-01A-11D-A26P-10	15564841	52439271	145583159	16	44985	479	2									
BAP1	8314	hgsc.bcm.edu	37	3	52439275	52439275	+	Missense_Mutation	SNP	C	C	A			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr3:52439275C>A	ENST00000460680.1	-	11	1438	c.967G>T	c.(967-969)Gcc>Tcc	p.A323S	BAP1_ENST00000296288.5_Missense_Mutation_p.A305S	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P324fs*7(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		TGGGATGGGGCTTGTGCGCAT	0.592			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"																															GBM(101;493 1458 7992 21037 25532)		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	1	Deletion - Frameshift(1)	pleura(1)											113	118	116					3																	52439275		2203	4300	6503	SO:0001583	missense	8314			AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.967G>T	chr3.hg19:g.52439275C>A	ENSP00000417132:p.Ala323Ser		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Missense_Mutation	SNP	ENST00000460680.1	hg19	CCDS2853.1	.	.	.	.	.	.	.	.	.	.	C	10.53	1.375375	0.24857	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	T;T	0.55588	0.51;0.51	5.7	4.82	0.62117	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (1);	0.290995	0.39341	N	0.001388	T	0.41789	0.1174	L	0.44542	1.39	0.21782	N	0.999546	B	0.09022	0.002	B	0.14023	0.01	T	0.24512	-1.0158	10	0.24483	T	0.36	-12.9423	9.1237	0.36801	0.0:0.8178:0.0:0.1822	.	323	Q92560	BAP1_HUMAN	S	323;305	ENSP00000417132:A323S;ENSP00000296288:A305S	ENSP00000296288:A305S	A	-	1	0	BAP1	52414315	0.962000	0.33011	0.955000	0.39395	0.115000	0.19883	0.927000	0.28818	1.398000	0.46701	0.655000	0.94253	GCC		0.592	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1			A	52439275	C	A	52439275	3	1	763	1	0	0	0	0	1	0	0	0	1311	797	28	4	1250	4	BAP1	3	52439275	Missense_Mutation	SNP	C	TCGA-MH-A560-01A-11D-A26P-10	4	52439275	145583155	17	44986	479	2									
OSBPL11	114885	hgsc.bcm.edu	37	3	125250787	125250787	+	Missense_Mutation	SNP	G	G	A			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr3:125250787G>A	ENST00000296220.5	-	12	2385	c.2096C>T	c.(2095-2097)aCc>aTc	p.T699I		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	699					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|positive regulation of sequestering of triglyceride (GO:0010890)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						TTCTTCCAGGGTATGCTTATG	0.403																																																0													177	165	169					3																	125250787		2203	4300	6503	SO:0001583	missense	114885			AF392454	CCDS3033.1	3q21	2013-01-10			ENSG00000144909	ENSG00000144909		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16397	protein-coding gene	gene with protein product		606739					Standard	NM_022776		Approved	ORP-11, ORP11, FLJ13012, FLJ13164	uc003eic.3	Q9BXB4	OTTHUMG00000159571	ENST00000296220.5:c.2096C>T	chr3.hg19:g.125250787G>A	ENSP00000296220:p.Thr699Ile		A8K9I7	Missense_Mutation	SNP	ENST00000296220.5	hg19	CCDS3033.1	.	.	.	.	.	.	.	.	.	.	G	12.16	1.853695	0.32791	.	.	ENSG00000144909	ENST00000296220	T	0.30182	1.54	4.59	4.59	0.56863	.	0.550827	0.19443	N	0.114129	T	0.16981	0.0408	N	0.04508	-0.205	0.21355	N	0.999719	B	0.20164	0.042	B	0.15870	0.014	T	0.09207	-1.0685	10	0.23891	T	0.37	-2.1904	17.9326	0.89002	0.0:0.0:1.0:0.0	.	699	Q9BXB4	OSB11_HUMAN	I	699	ENSP00000296220:T699I	ENSP00000296220:T699I	T	-	2	0	OSBPL11	126733477	1.000000	0.71417	0.715000	0.30552	0.961000	0.63080	4.367000	0.59498	2.542000	0.85734	0.462000	0.41574	ACC		0.403	OSBPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356295.1	NM_022776		A	125250787	G	A	125250787	3	1	763	1	0	0	0	0	1	0	0	0	11278	1261	44	2	155	2	OSBPL11	3	125250787	Missense_Mutation	SNP	G	TCGA-MH-A560-01A-11D-A26P-10	72811512	125250787	72771643	18	44987											
CLDN11	5010	hgsc.bcm.edu	37	3	170141043	170141043	+	Missense_Mutation	SNP	C	C	T			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr3:170141043C>T	ENST00000064724.3	+	2	521	c.319C>T	c.(319-321)Cgg>Tgg	p.R107W	CLDN11_ENST00000486975.1_Missense_Mutation_p.R107W|CLDN11_ENST00000489485.1_3'UTR|CLDN11_ENST00000451576.1_Missense_Mutation_p.R107W	NM_005602.5	NP_005593.2	O75508	CLD11_HUMAN	claudin 11	107					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)			TCCCTGCATCCGGATGGGCCA	0.607																																																0													111	105	107					3																	170141043		2203	4300	6503	SO:0001583	missense	5010			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.319C>T	chr3.hg19:g.170141043C>T	ENSP00000064724:p.Arg107Trp		B2R7C1|D3DNQ5|Q5U0P3	Missense_Mutation	SNP	ENST00000064724.3	hg19	CCDS3213.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.128510	0.77549	.	.	ENSG00000013297	ENST00000064724;ENST00000486975;ENST00000451576	D;D;D	0.89681	-2.55;-2.55;-2.55	5.81	4.91	0.64330	.	0.175301	0.50627	D	0.000106	D	0.94265	0.8158	M	0.79123	2.44	0.47621	D	0.999477	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.949	D	0.94887	0.8044	10	0.87932	D	0	.	15.8994	0.79362	0.1364:0.8636:0.0:0.0	.	107;107	B4DFI2;O75508	.;CLD11_HUMAN	W	107	ENSP00000064724:R107W;ENSP00000417434:R107W;ENSP00000410185:R107W	ENSP00000064724:R107W	R	+	1	2	CLDN11	171623737	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	2.422000	0.44696	1.391000	0.46566	0.557000	0.71058	CGG		0.607	CLDN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352403.1	NM_005602		T	170141043	C	T	170141043	3	4	763	1	0	0	0	0	1	0	0	0	3475	643	23	1	325	1	CLDN11	3	170141043	Missense_Mutation	SNP	C	TCGA-MH-A560-01A-11D-A26P-10	44890256	170141043	27881387	19	44988											
MFN1	55669	hgsc.bcm.edu	37	3	179082985	179082985	+	Missense_Mutation	SNP	C	C	G			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr3:179082985C>G	ENST00000471841.1	+	7	851	c.725C>G	c.(724-726)tCt>tGt	p.S242C	MFN1_ENST00000280653.7_Missense_Mutation_p.S242C|MFN1_ENST00000263969.5_Missense_Mutation_p.S242C	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	242	Dynamin-type G.				mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TGGGATGCCTCTGCATCAGAG	0.328																																																0													50	54	53					3																	179082985		2203	4300	6503	SO:0001583	missense	55669			AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.725C>G	chr3.hg19:g.179082985C>G	ENSP00000420617:p.Ser242Cys		B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Missense_Mutation	SNP	ENST00000471841.1	hg19	CCDS3228.1	.	.	.	.	.	.	.	.	.	.	C	19.98	3.927490	0.73327	.	.	ENSG00000171109	ENST00000471841;ENST00000280653;ENST00000539169;ENST00000263969;ENST00000489329;ENST00000474903	D;D;D;D;D	0.95447	-3.71;-3.71;-3.71;-3.66;-3.66	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.98128	0.9382	M	0.88241	2.94	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.998	D;P;P	0.87578	0.998;0.907;0.907	D	0.98003	1.0361	10	0.48119	T	0.1	-19.0836	19.7394	0.96219	0.0:1.0:0.0:0.0	.	242;270;242	Q8IWA4-3;Q4AEJ4;Q8IWA4	.;.;MFN1_HUMAN	C	242;242;242;242;95;105	ENSP00000420617:S242C;ENSP00000280653:S242C;ENSP00000263969:S242C;ENSP00000420148:S95C;ENSP00000419926:S105C	ENSP00000263969:S242C	S	+	2	0	MFN1	180565679	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.739000	0.68622	2.649000	0.89929	0.563000	0.77884	TCT		0.328	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2	NM_017927		G	179082985	C	G	179082985	3	3	763	1	0	0	0	0	1	0	0	0	9525	913	32	4	747	4	MFN1	3	179082985	Missense_Mutation	SNP	C	TCGA-MH-A560-01A-11D-A26P-10	8941942	179082985	18939445	20	44989											
FGG	2266	hgsc.bcm.edu	37	4	155526043	155526043	+	Silent	SNP	T	T	C			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr4:155526043T>C	ENST00000336098.3	-	9	1343	c.1305A>G	c.(1303-1305)agA>agG	p.R435R	FGG_ENST00000407946.1_Silent_p.R443R|FGG_ENST00000404648.3_Intron|FGG_ENST00000405164.1_Intron	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	435	Platelet aggregation and Staphylococcus clumping.			R -> Y (in Ref. 15; AA sequence). {ECO:0000305}.	blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GGTGCTCTGGTCTGACCTGTT	0.433																																																0													198	188	192					4																	155526043		2203	4300	6503	SO:0001819	synonymous_variant	2266				CCDS3788.1, CCDS47153.1	4q28	2014-09-17			ENSG00000171557	ENSG00000171557		"Fibrinogen C domain containing", "Endogenous ligands"	3694	protein-coding gene	gene with protein product		134850	"fibrinogen, gamma polypeptide"				Standard	NM_000509		Approved		uc003ioj.3	P02679	OTTHUMG00000150329	ENST00000336098.3:c.1305A>G	chr4.hg19:g.155526043T>C			A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Silent	SNP	ENST00000336098.3	hg19	CCDS3788.1																																																																																				0.433	FGG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317581.1	NM_021870		C	155526043	T	C	155526043	2	2	763	1	0	0	0	0	0	0	0	1	5872	1664	58	3		3	FGG	4	155526043	Silent	SNP	T	TCGA-MH-A560-01A-11D-A26P-10		155526043	35628233	21	44990											
PAPD4	167153	hgsc.bcm.edu	37	5	78941013	78941013	+	Silent	SNP	C	C	T			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr5:78941013C>T	ENST00000296783.3	+	9	1118	c.819C>T	c.(817-819)gtC>gtT	p.V273V	PAPD4_ENST00000504233.1_Silent_p.V273V|PAPD4_ENST00000423041.2_Silent_p.V269V|PAPD4_ENST00000453514.1_Silent_p.V273V|PAPD4_ENST00000428308.2_Silent_p.V273V			Q6PIY7	GLD2_HUMAN	PAP associated domain containing 4	273					hematopoietic progenitor cell differentiation (GO:0002244)|histone mRNA catabolic process (GO:0071044)|mRNA processing (GO:0006397)|RNA polyadenylation (GO:0043631)	cytoplasm (GO:0005737)|nuclear RNA-directed RNA polymerase complex (GO:0031380)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)			biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		GGGATAAAGTCAGGTAAATAA	0.338																																																0													91	94	93					5																	78941013		2203	4300	6503	SO:0001819	synonymous_variant	167153			AL833136	CCDS4048.1, CCDS75265.1, CCDS75266.1	5q14.1	2014-03-21			ENSG00000164329	ENSG00000164329			26776	protein-coding gene	gene with protein product	"TUTase2"	614121				12477932	Standard	NM_173797		Approved	FLJ38499, GLD2, TUT2	uc003kgb.2	Q6PIY7	OTTHUMG00000108163	ENST00000296783.3:c.819C>T	chr5.hg19:g.78941013C>T			Q86WZ2|Q8N927	Silent	SNP	ENST00000296783.3	hg19	CCDS4048.1																																																																																				0.338	PAPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226967.1	NM_173797		T	78941013	C	T	78941013	2	4	763	1	0	0	0	0	0	0	0	1	11426	813	29	2		2	PAPD4	5	78941013	Silent	SNP	C	TCGA-MH-A560-01A-11D-A26P-10		78941013	101974247	22	44991											
THSD7A	221981	hgsc.bcm.edu	37	7	11675888	11675888	+	Silent	SNP	G	G	A	rs375820480		TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr7:11675888G>A	ENST00000423059.4	-	2	1142	c.891C>T	c.(889-891)cgC>cgT	p.R297R	THSD7A_ENST00000480061.1_5'Flank	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	297					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)		TAATAAGCTCGCGGGCTTCTG	0.463										HNSCC(18;0.044)																																						0								G		0,3716		0,0,1858	137	131	133		891	-11.2	0.6	7		133	1,8219		0,1,4109	no	coding-synonymous	THSD7A	NM_015204.2		0,1,5967	AA,AG,GG		0.0122,0.0,0.0084		297/1658	11675888	1,11935	1858	4110	5968	SO:0001819	synonymous_variant	221981				CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.891C>T	chr7.hg19:g.11675888G>A				Silent	SNP	ENST00000423059.4	hg19	CCDS47543.1																																																																																				0.463	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		A	11675888	G	A	11675888	2	1	763	1	0	0	0	0	0	0	0	1	15884	1074	38	1		1	THSD7A	7	11675888	Silent	SNP	G	TCGA-MH-A560-01A-11D-A26P-10		11675888	147462775	23	44992											
IMMP2L	83943	hgsc.bcm.edu	37	7	111161447	111161447	+	Silent	SNP	G	G	A			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr7:111161447G>A	ENST00000405709.2	-	2	499	c.57C>T	c.(55-57)ttC>ttT	p.F19F	IMMP2L_ENST00000452895.1_Silent_p.F19F|IMMP2L_ENST00000437687.1_Silent_p.F19F|IMMP2L_ENST00000447215.1_Silent_p.F19F|IMMP2L_ENST00000415362.1_Silent_p.F19F|IMMP2L_ENST00000331762.3_Silent_p.F19F	NM_032549.3	NP_115938.1	Q96T52	IMP2L_HUMAN	IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)	19					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)		CCGCCACAAAGAAGCCTTTAC	0.433																																																0													107	106	106					7																	111161447		2203	4300	6503	SO:0001819	synonymous_variant	83943			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.57C>T	chr7.hg19:g.111161447G>A			Q75MF1|Q75MN9|Q75MP0|Q75MS5|Q75MS8|Q96HJ2	Silent	SNP	ENST00000405709.2	hg19	CCDS5753.1																																																																																				0.433	IMMP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338109.4	NM_032549		A	111161447	G	A	111161447	2	1	763	1	0	0	0	0	0	0	0	1	7719	933	33	2		2	IMMP2L	7	111161447	Silent	SNP	G	TCGA-MH-A560-01A-11D-A26P-10	99485559	111161447	47977216	24	44993											
KIAA1147	57189	hgsc.bcm.edu	37	7	141365048	141365048	+	Silent	SNP	A	A	T			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr7:141365048A>T	ENST00000536163.1	-	6	890	c.891T>A	c.(889-891)ccT>ccA	p.P297P	KIAA1147_ENST00000482493.1_Silent_p.P193P|RP5-894A10.6_ENST00000602609.1_RNA	NM_001080392.1	NP_001073861.1	A4D1U4	LCHN_HUMAN	KIAA1147	297										breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|ovary(1)|skin(1)	12	Melanoma(164;0.0171)					CGTAGAAGAAAGGTTTGGACT	0.597																																																0													82	89	87					7																	141365048		2145	4228	6373	SO:0001819	synonymous_variant	57189			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.891T>A	chr7.hg19:g.141365048A>T			Q9ULS3	Silent	SNP	ENST00000536163.1	hg19	CCDS47726.1																																																																																				0.597	KIAA1147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349104.1			T	141365048	A	T	141365048	2	4	763	1	0	0	0	0	0	0	0	1	8212	59	3	5		5	KIAA1147	7	141365048	Silent	SNP	A	TCGA-MH-A560-01A-11D-A26P-10	30203601	141365048	17773615	25	44994											
CUL1	8454	hgsc.bcm.edu	37	7	148496376	148496376	+	Missense_Mutation	SNP	G	G	A			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr7:148496376G>A	ENST00000325222.4	+	21	2425	c.2146G>A	c.(2146-2148)Gtg>Atg	p.V716M	CUL1_ENST00000602748.1_Missense_Mutation_p.V716M|CUL1_ENST00000409469.1_Missense_Mutation_p.V716M	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	716					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GGCGGCCATCGTGAGAATCAT	0.478																																																0													139	106	117					7																	148496376		2203	4300	6503	SO:0001583	missense	8454			U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.2146G>A	chr7.hg19:g.148496376G>A	ENSP00000326804:p.Val716Met		D3DWG3|O60719|Q08AL6|Q8IYW1	Missense_Mutation	SNP	ENST00000325222.4	hg19	CCDS34772.1	.	.	.	.	.	.	.	.	.	.	.	28.3	4.905971	0.92107	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000433865	D;D	0.89270	-2.49;-2.49	5.3	5.3	0.74995	Cullin protein, neddylation domain (2);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.96417	0.8831	H	0.96633	3.855	0.80722	D	1	D;D	0.76494	0.999;0.999	D;P	0.65233	0.933;0.64	D	0.97776	1.0229	10	0.87932	D	0	-16.3531	18.9531	0.92647	0.0:0.0:1.0:0.0	.	643;716	E7EWR0;Q13616	.;CUL1_HUMAN	M	716;716;643	ENSP00000387160:V716M;ENSP00000326804:V716M	ENSP00000326804:V716M	V	+	1	0	CUL1	148127309	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.472000	0.97709	2.467000	0.83353	0.557000	0.71058	GTG		0.478	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467785.1	NM_003592		A	148496376	G	A	148496376	3	1	763	1	0	0	0	0	1	0	0	0	4056	1145	40	1	2224	1	CUL1	7	148496376	Missense_Mutation	SNP	G	TCGA-MH-A560-01A-11D-A26P-10	7131328	148496376	10642287	26	44995											
DEFA6	1671	hgsc.bcm.edu	37	8	6783427	6783427	+	Missense_Mutation	SNP	G	G	A	rs371286175		TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr8:6783427G>A	ENST00000297436.2	-	1	171	c.131C>T	c.(130-132)gCa>gTa	p.A44V	GS1-24F4.3_ENST00000526235.1_RNA	NM_001926.3	NP_001917.1	Q01524	DEF6_HUMAN	defensin, alpha 6, Paneth cell-specific	44					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)				lung(4)	4			STAD - Stomach adenocarcinoma(24;0.0322)	COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		CTGGTCATTTGCCCCACGCTG	0.557																																																0								G	VAL/ALA	0,4406		0,0,2203	70	58	62		131	-3.3	0	8		62	1,8599		0,1,4299	no	missense	DEFA6	NM_001926.3	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	44/101	6783427	1,13005	2203	4300	6503	SO:0001583	missense	1671			M98331	CCDS5960.1	8p23.1	2007-02-20			ENSG00000164822	ENSG00000164822		"Defensins, alpha"	2765	protein-coding gene	gene with protein product		600471				8417977	Standard	NM_001926		Approved	HD-6, DEF6	uc003wqt.3	Q01524	OTTHUMG00000149984	ENST00000297436.2:c.131C>T	chr8.hg19:g.6783427G>A	ENSP00000297436:p.Ala44Val		Q6EZF9	Missense_Mutation	SNP	ENST00000297436.2	hg19	CCDS5960.1	.	.	.	.	.	.	.	.	.	.	.	2.180	-0.387804	0.04932	0.0	1.16E-4	ENSG00000164822	ENST00000297436	T	0.32023	1.47	1.85	-3.35	0.04928	Defensin propeptide (1);	2.198720	0.02497	N	0.090070	T	0.24624	0.0597	L	0.39245	1.2	0.09310	N	1	B	0.30763	0.294	B	0.29942	0.109	T	0.12293	-1.0553	10	0.44086	T	0.13	.	5.9699	0.19346	0.0:0.1529:0.3749:0.4722	.	44	Q01524	DEF6_HUMAN	V	44	ENSP00000297436:A44V	ENSP00000297436:A44V	A	-	2	0	DEFA6	6770837	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.753000	0.04792	-1.668000	0.01471	-1.471000	0.01009	GCA		0.557	DEFA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206739.1	NM_001926		A	6783427	G	A	6783427	3	1	763	1	0	0	0	0	1	0	0	0	4395	1319	46	2	179	2	DEFA6	8	6783427	Missense_Mutation	SNP	G	TCGA-MH-A560-01A-11D-A26P-10		6783427	139580595	27	44996											
MFHAS1	9258	hgsc.bcm.edu	37	8	8655002	8655002	+	Splice_Site	SNP	C	C	A			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr8:8655002C>A	ENST00000276282.6	-	2	3585		c.e2-1		MFHAS1_ENST00000520091.1_Splice_Site	NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1											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)		AGCAACTCCCCTGTAGGAGGA	0.547																																					Melanoma(103;1201 2045 17515 28966)											0													78	66	70					8																	8655002		2203	4300	6503	SO:0001630	splice_region_variant	9258			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.2999-1G>T	chr8.hg19:g.8655002C>A			Q96CI0	Splice_Site	SNP	ENST00000276282.6	hg19	CCDS34844.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.752676	0.89753	.	.	ENSG00000147324	ENST00000276282	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.882	0.92358	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MFHAS1	8692412	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.251000	0.78297	2.703000	0.92315	0.551000	0.68910	.		0.547	MFHAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374724.2	NM_004225	Intron	A	8655002	C	A	8655002	5	1	763	1	0	0	0	0	0	0	1	0	9523	695	24	4	168	4	MFHAS1	8	8655002	Splice_Site	SNP	C	TCGA-MH-A560-01A-11D-A26P-10	1871575	8655002	137709020	28	44997											
SETX	23064	hgsc.bcm.edu	37	9	135163729	135163729	+	Missense_Mutation	SNP	A	A	G			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr9:135163729A>G	ENST00000224140.5	-	17	6400	c.6218T>C	c.(6217-6219)tTa>tCa	p.L2073S	SETX_ENST00000372169.2_Missense_Mutation_p.L2073S|SETX_ENST00000393220.1_Missense_Mutation_p.L2073S	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	2073					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)		ATGAGAAGGTAACTCTTTTTC	0.358																																																0													33	32	32					9																	135163729		2203	4300	6503	SO:0001583	missense	23064			AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"amyotrophic lateral sclerosis 4", "spinocerebellar ataxia, recessive, non-Friedreich type 1"	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.6218T>C	chr9.hg19:g.135163729A>G	ENSP00000224140:p.Leu2073Ser		A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	hg19	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	A	13.01	2.108442	0.37242	.	.	ENSG00000107290	ENST00000224140;ENST00000436441;ENST00000372169;ENST00000393220	D;D;D;D	0.90900	-2.18;-2.75;-2.26;-1.87	5.5	5.5	0.81552	.	0.381500	0.24779	N	0.035673	D	0.89406	0.6706	L	0.31476	0.935	0.39629	D	0.970154	B;D;D	0.76494	0.203;0.999;0.998	B;D;P	0.68483	0.075;0.958;0.876	D	0.85262	0.1051	10	0.09338	T	0.73	.	8.5286	0.33319	0.9131:0.0:0.0869:0.0	.	2073;2073;2073	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	S	2073;315;2073;2073	ENSP00000224140:L2073S;ENSP00000409143:L315S;ENSP00000361242:L2073S;ENSP00000376913:L2073S	ENSP00000224140:L2073S	L	-	2	0	SETX	134153550	0.972000	0.33761	0.996000	0.52242	0.786000	0.44442	2.256000	0.43231	2.221000	0.72209	0.528000	0.53228	TTA		0.358	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		G	135163729	A	G	135163729	3	3	763	1	0	0	0	0	1	0	0	0	14147	372	13	3	1855	3	SETX	9	135163729	Missense_Mutation	SNP	A	TCGA-MH-A560-01A-11D-A26P-10		135163729	6049702	29	44998											
TAF3	83860	hgsc.bcm.edu	37	10	8007636	8007636	+	Missense_Mutation	SNP	G	G	C			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr10:8007636G>C	ENST00000344293.5	+	3	2369	c.2163G>C	c.(2161-2163)aaG>aaC	p.K721N		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	721	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						agaaggagaaggaaagagaga	0.383																																																0													18	18	18					10																	8007636		1856	4075	5931	SO:0001583	missense	83860			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.2163G>C	chr10.hg19:g.8007636G>C	ENSP00000340271:p.Lys721Asn		Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Missense_Mutation	SNP	ENST00000344293.5	hg19	CCDS41487.1	.	.	.	.	.	.	.	.	.	.	G	11.76	1.735163	0.30774	.	.	ENSG00000165632	ENST00000344293	T	0.08634	3.07	5.68	4.59	0.56863	.	0.459877	0.21158	N	0.079203	T	0.13798	0.0334	M	0.81802	2.56	0.49299	D	0.999772	P	0.46706	0.883	B	0.40375	0.327	T	0.02301	-1.1180	10	0.36615	T	0.2	-14.6137	13.0132	0.58743	0.1321:0.0:0.8679:0.0	.	721	Q5VWG9	TAF3_HUMAN	N	721	ENSP00000340271:K721N	ENSP00000340271:K721N	K	+	3	2	TAF3	8047642	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	2.385000	0.44371	2.689000	0.91719	0.655000	0.94253	AAG		0.383	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046725.1	NM_031923		C	8007636	G	C	8007636	3	2	763	1	0	0	0	0	1	0	0	0	15530	991	35	4	2173	4	TAF3	10	8007636	Missense_Mutation	SNP	G	TCGA-MH-A560-01A-11D-A26P-10		8007636	127527111	30	44999											
DHTKD1	55526	hgsc.bcm.edu	37	10	12139749	12139749	+	Missense_Mutation	SNP	G	G	C			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr10:12139749G>C	ENST00000263035.4	+	8	1487	c.1425G>C	c.(1423-1425)gaG>gaC	p.E475D	DHTKD1_ENST00000465617.1_3'UTR	NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	475					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)			TGACGCAGGAGGAGGTGTCTG	0.488																																																0													67	62	64					10																	12139749		2203	4300	6503	SO:0001583	missense	55526			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.1425G>C	chr10.hg19:g.12139749G>C	ENSP00000263035:p.Glu475Asp		Q68CU5|Q9BUM8|Q9HCE2	Missense_Mutation	SNP	ENST00000263035.4	hg19	CCDS7087.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.11|12.11	1.839538|1.839538	0.32513|0.32513	.|.	.|.	ENSG00000181192|ENSG00000181192	ENST00000263035|ENST00000448829	T|.	0.16196|.	2.36|.	5.35|5.35	1.27|1.27	0.21489|0.21489	Dehydrogenase, E1 component (1);|.	0.112246|.	0.64402|.	D|.	0.000014|.	T|T	0.35770|0.35770	0.0943|0.0943	N|N	0.25144|0.25144	0.715|0.715	0.41129|0.41129	D|D	0.985874|0.985874	B|.	0.14012|.	0.009|.	B|.	0.17979|.	0.02|.	T|T	0.07046|0.07046	-1.0793|-1.0793	10|5	0.24483|.	T|.	0.36|.	-13.3397|-13.3397	4.01|4.01	0.09618|0.09618	0.3596:0.0:0.3864:0.254|0.3596:0.0:0.3864:0.254	.|.	475|.	Q96HY7|.	DHTK1_HUMAN|.	D|R	475|27	ENSP00000263035:E475D|.	ENSP00000263035:E475D|.	E|G	+|+	3|1	2|0	DHTKD1|DHTKD1	12179755|12179755	0.982000|0.982000	0.34865|0.34865	1.000000|1.000000	0.80357|0.80357	0.863000|0.863000	0.49368|0.49368	0.093000|0.093000	0.15086|0.15086	0.264000|0.264000	0.21851|0.21851	0.462000|0.462000	0.41574|0.41574	GAG|GGA		0.488	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1	NM_018706		C	12139749	G	C	12139749	3	2	763	1	0	0	0	0	1	0	0	0	4502	991	35	4	1455	4	DHTKD1	10	12139749	Missense_Mutation	SNP	G	TCGA-MH-A560-01A-11D-A26P-10	4132113	12139749	123394998	31	45000											
DNA2	1763	hgsc.bcm.edu	37	10	70182074	70182074	+	Missense_Mutation	SNP	C	C	T	rs369018277		TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr10:70182074C>T	ENST00000358410.3	-	17	2655	c.2605G>A	c.(2605-2607)Gaa>Aaa	p.E869K	DNA2_ENST00000399180.2_Missense_Mutation_p.E955K|DNA2_ENST00000399179.2_Intron	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2	869	Helicase activity. {ECO:0000250}.				ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication, Okazaki fragment processing (GO:0033567)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|mitochondrial DNA repair (GO:0043504)|mitochondrial DNA replication (GO:0006264)|mitotic cell cycle (GO:0000278)|positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|5'-flap endonuclease activity (GO:0017108)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|nuclease activity (GO:0004518)|single-stranded DNA-dependent ATPase activity (GO:0043142)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						AATTCCAGTTCCAGCTTCACA	0.393																																																0								C	LYS/GLU	0,3782		0,0,1891	90	87	88		2605	3	1	10		88	1,8241		0,1,4120	no	missense	DNA2	NM_001080449.2	56	0,1,6011	TT,TC,CC		0.0121,0.0,0.0083	possibly-damaging	869/1061	70182074	1,12023	1891	4121	6012	SO:0001583	missense	1763			D42046	CCDS44415.1, CCDS44415.2	10q21.3-q22.1	2013-05-13	2013-05-13	2008-01-08	ENSG00000138346	ENSG00000138346			2939	protein-coding gene	gene with protein product		601810	"DNA2 DNA replication helicase 2-like (yeast)", "DNA replication helicase 2 homolog (yeast)"	DNA2L		8938459, 17032657, 23352259	Standard	NM_001080449		Approved	KIAA0083	uc031pvh.1	P51530	OTTHUMG00000018352	ENST00000358410.3:c.2605G>A	chr10.hg19:g.70182074C>T	ENSP00000351185:p.Glu869Lys		Q2NKM1|Q5TC49|Q5TC50|Q6P455|Q6PI80|Q7Z6H9|Q8N346	Missense_Mutation	SNP	ENST00000358410.3	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.14|16.14	3.040039|3.040039	0.55003|0.55003	0.0|0.0	1.21E-4|1.21E-4	ENSG00000138346|ENSG00000138346	ENST00000399180;ENST00000358410|ENST00000440722	D;D|.	0.91464|.	-2.85;-2.83|.	4.93|4.93	3.02|3.02	0.34903|0.34903	.|.	1.268580|.	0.05029|.	N|.	0.474288|.	T|T	0.58779|0.58779	0.2146|0.2146	L|L	0.49350|0.49350	1.555|1.555	0.80722|0.80722	D|D	1|1	P|.	0.49358|.	0.923|.	P|.	0.46796|.	0.527|.	T|T	0.54931|0.54931	-0.8219|-0.8219	10|5	0.11182|.	T|.	0.66|.	.|.	10.956|10.956	0.47358|0.47358	0.0:0.845:0.0:0.155|0.0:0.845:0.0:0.155	.|.	869|.	P51530|.	DNA2L_HUMAN|.	K|E	955;869|190	ENSP00000382133:E955K;ENSP00000351185:E869K|.	ENSP00000351185:E869K|.	E|G	-|-	1|2	0|0	DNA2|DNA2	69852080|69852080	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.905000|0.905000	0.53344|0.53344	2.929000|2.929000	0.48916|0.48916	1.035000|1.035000	0.39972|0.39972	0.655000|0.655000	0.94253|0.94253	GAA|GGA		0.393	DNA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048334.2			T	70182074	C	T	70182074	3	4	763	1	0	0	0	0	1	0	0	0	4598	864	30	2	597	2	DNA2	10	70182074	Missense_Mutation	SNP	C	TCGA-MH-A560-01A-11D-A26P-10	58042325	70182074	65352673	32	45001											
HPSE2	60495	hgsc.bcm.edu	37	10	100481443	100481443	+	Silent	SNP	C	C	T	rs200916817		TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr10:100481443C>T	ENST00000370552.3	-	5	986	c.927G>A	c.(925-927)ccG>ccA	p.P309P	HPSE2_ENST00000370549.1_Silent_p.P251P|HPSE2_ENST00000404542.1_Silent_p.P197P|HPSE2_ENST00000370546.1_Silent_p.P309P	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	309					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)		CATTCTTCCTCGGCCGCCCAA	0.438																																																0													55	54	54					10																	100481443		2203	4300	6503	SO:0001819	synonymous_variant	60495			AF282885	CCDS7477.1, CCDS53567.1, CCDS53568.1	10q23-q24	2014-05-09	2014-05-09		ENSG00000172987	ENSG00000172987			18374	protein-coding gene	gene with protein product		613469	"urofacial syndrome", "heparanase 2"	UFS		11027606, 20605132, 9199567, 20576607	Standard	NM_021828		Approved	HPA2, HPR2	uc001kpn.2	Q8WWQ2	OTTHUMG00000018880	ENST00000370552.3:c.927G>A	chr10.hg19:g.100481443C>T			Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Silent	SNP	ENST00000370552.3	hg19	CCDS7477.1																																																																																				0.438	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049789.1	NM_021828		T	100481443	C	T	100481443	2	4	763	1	0	0	0	0	0	0	0	1	7347	871	31	1		1	HPSE2	10	100481443	Silent	SNP	C	TCGA-MH-A560-01A-11D-A26P-10	30299369	100481443	35053304	33	45002											
GBF1	8729	hgsc.bcm.edu	37	10	104123472	104123472	+	Frame_Shift_Del	DEL	A	A	-			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr10:104123472delA	ENST00000369983.3	+	17	2280	c.2020delA	c.(2020-2022)aaafs	p.K675fs		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	675					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)		CCTAGCTGACAAAAAGTTTGC	0.423																																																0													113	119	117					10																	104123472		2203	4300	6503	SO:0001589	frameshift_variant	8729			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.2020delA	chr10.hg19:g.104123472delA	ENSP00000359000:p.Lys675fs		Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Frame_Shift_Del	DEL	ENST00000369983.3	hg19	CCDS7533.1																																																																																				0.423	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			-	104123472	A	-	104123472	7	5	763	1	0	1	0	1	0	0	0	0	6273	131	5	0	2082	0	GBF1	10	104123472	Frame_Shift_Del	DEL	A	TCGA-MH-A560-01A-11D-A26P-10	3642029	104123472	31411275	34	45003											
CARNS1	57571	hgsc.bcm.edu	37	11	67186592	67186592	+	Missense_Mutation	SNP	G	G	C			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr11:67186592G>C	ENST00000307823.3	+	4	813	c.361G>C	c.(361-363)Gga>Cga	p.G121R	CARNS1_ENST00000445895.2_Missense_Mutation_p.G244R|CARNS1_ENST00000423745.2_Missense_Mutation_p.G121R|CARNS1_ENST00000531040.1_Missense_Mutation_p.G244R	NM_020811.1	NP_065862.1	A5YM72	CRNS1_HUMAN	carnosine synthase 1	121					ATP catabolic process (GO:0006200)|carnosine biosynthetic process (GO:0035499)		ATP binding (GO:0005524)|ATPase activity (GO:0016887)|carnosine synthase activity (GO:0047730)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)	11						GCTGCTGCGGGGAGGGGATGC	0.652																																																0													5	7	6					11																	67186592		1871	3990	5861	SO:0001583	missense	57571				CCDS44658.1, CCDS53667.1	11q13.1	2010-03-25	2010-03-25	2010-03-25	ENSG00000172508	ENSG00000172508			29268	protein-coding gene	gene with protein product		613368	"ATP-grasp domain containing 1"	ATPGD1		20097752	Standard	NM_020811		Approved	KIAA1394	uc010rpr.2	A5YM72		ENST00000307823.3:c.361G>C	chr11.hg19:g.67186592G>C	ENSP00000308268:p.Gly121Arg		A8K1M3|B4DFC6|E9PK38|F5H427|Q8N467|Q9P2F3	Missense_Mutation	SNP	ENST00000307823.3	hg19	CCDS44658.1	.	.	.	.	.	.	.	.	.	.	G	9.966	1.224062	0.22457	.	.	ENSG00000172508	ENST00000531040;ENST00000307823;ENST00000542831;ENST00000539452;ENST00000423745;ENST00000445895	T;T;T;T	0.32753	1.44;1.47;1.47;1.47	4.38	2.5	0.30297	.	.	.	.	.	T	0.31765	0.0807	N	0.19112	0.55	0.09310	N	1	D;P;D	0.62365	0.982;0.94;0.991	P;P;P	0.60068	0.868;0.605;0.868	T	0.09552	-1.0669	9	0.41790	T	0.15	.	7.4523	0.27246	0.2888:0.0:0.7112:0.0	.	244;121;260	F5H427;A5YM72;A5YM72-3	.;CRNS1_HUMAN;.	R	244;121;244;260;121;244	ENSP00000431670:G244R;ENSP00000308268:G121R;ENSP00000401519:G121R;ENSP00000389009:G244R	ENSP00000308268:G121R	G	+	1	0	CARNS1	66943168	0.111000	0.22076	0.569000	0.28460	0.012000	0.07955	2.541000	0.45735	0.487000	0.27698	0.561000	0.74099	GGA		0.652	CARNS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395501.1	NM_020811		C	67186592	G	C	67186592	3	2	763	1	0	0	0	0	1	0	0	0	2658	1233	43	4	744	4	CARNS1	11	67186592	Missense_Mutation	SNP	G	TCGA-MH-A560-01A-11D-A26P-10		67186592	67819924	35	45004											
C11orf53	341032	hgsc.bcm.edu	37	11	111156468	111156468	+	Missense_Mutation	SNP	A	A	C			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr11:111156468A>C	ENST00000280325.4	+	4	547	c.400A>C	c.(400-402)Agt>Cgt	p.S134R		NM_198498.1	NP_940900.1	Q8IXP5	CK053_HUMAN	chromosome 11 open reading frame 53	134										endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)		ACCCAGCACGAGTTGCCTCTC	0.632																																																0													76	69	71					11																	111156468		2201	4297	6498	SO:0001583	missense	341032			BC039669	CCDS31674.1	11q23.1	2012-05-31			ENSG00000150750	ENSG00000150750			30527	protein-coding gene	gene with protein product						12477932	Standard	NM_198498		Approved	MGC50104	uc001plc.3	Q8IXP5	OTTHUMG00000166656	ENST00000280325.4:c.400A>C	chr11.hg19:g.111156468A>C	ENSP00000280325:p.Ser134Arg			Missense_Mutation	SNP	ENST00000280325.4	hg19	CCDS31674.1	.	.	.	.	.	.	.	.	.	.	A	15.69	2.908387	0.52333	.	.	ENSG00000150750	ENST00000280325	.	.	.	4.8	0.97	0.19692	.	0.382752	0.29198	N	0.012842	T	0.39009	0.1062	L	0.55481	1.735	0.09310	N	0.999997	P	0.43701	0.815	P	0.45681	0.49	T	0.21415	-1.0246	9	0.42905	T	0.14	-1.3318	7.5852	0.27989	0.7125:0.0:0.2875:0.0	.	134	Q8IXP5	CK053_HUMAN	R	134	.	ENSP00000280325:S134R	S	+	1	0	C11orf53	110661678	0.055000	0.20627	0.041000	0.18516	0.940000	0.58332	1.282000	0.33226	-0.088000	0.12506	0.459000	0.35465	AGT		0.632	C11orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390989.1	NM_198498		C	111156468	A	C	111156468	3	2	763	1	0	0	0	0	1	0	0	0	1650	304	11	5	410	5	C11orf53	11	111156468	Missense_Mutation	SNP	A	TCGA-MH-A560-01A-11D-A26P-10	43969876	111156468	23850048	36	45005											
C14orf39	317761	hgsc.bcm.edu	37	14	60921717	60921717	+	Splice_Site	SNP	A	A	T			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr14:60921717A>T	ENST00000321731.3	-	16	1663		c.e16+1			NM_174978.2	NP_777638	Q8N1H7	S6OS1_HUMAN	chromosome 14 open reading frame 39						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)		TTCTCATATTACCTGATCTGA	0.313																																																0													36	39	38					14																	60921717		2198	4285	6483	SO:0001630	splice_region_variant	317761			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.1503+1T>A	chr14.hg19:g.60921717A>T			Q08AQ4	Splice_Site	SNP	ENST00000321731.3	hg19	CCDS9746.1	.	.	.	.	.	.	.	.	.	.	A	18.17	3.563953	0.65651	.	.	ENSG00000179008	ENST00000321731	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5881	0.61944	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C14orf39	59991470	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.199000	0.65152	2.234000	0.73211	0.459000	0.35465	.		0.313	C14orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276948.1	NM_174978	Intron	T	60921717	A	T	60921717	5	4	763	1	0	0	0	0	0	0	1	0	1774	405	14	5	270	5	C14orf39	14	60921717	Splice_Site	SNP	A	TCGA-MH-A560-01A-11D-A26P-10		60921717	46427823	37	45006											
FAM98B	283742	hgsc.bcm.edu	37	15	38776827	38776827	+	IGR	SNP	T	T	A			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr15:38776827T>A	ENST00000491535.1	+	0	3111				FAM98B_ENST00000397609.2_Silent_p.G423G	NM_001042429.1	NP_001035894.1	Q52LJ0	FA98B_HUMAN	family with sequence similarity 98, member B							cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-splicing ligase complex (GO:0072669)	poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8		all_cancers(109;3.11e-17)|all_epithelial(112;2.64e-15)|Lung NSC(122;2.11e-11)|all_lung(180;5.61e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;9e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0209)		gtggtggtggtggtggtggag	0.443																																																0													19	18	18					15																	38776827		1515	3413	4928	SO:0001628	intergenic_variant	283742				CCDS10047.2	15q14	2006-11-29		2005-11-20	ENSG00000171262	ENSG00000171262			26773	protein-coding gene	gene with protein product						12477932	Standard	NM_173611		Approved	FLJ38426	uc001zkc.3	Q52LJ0	OTTHUMG00000129831		chr15.hg19:g.38776827T>A			A8MUW5|Q8N935	Silent	SNP	ENST00000491535.1	hg19	CCDS42015.1																																																																																				0.443	FAM98B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252071.2	NM_173611		A	38776827	T	A	38776827	1	1	763	0	1	0	0	0	0	0	0	0	5659	1683	59	5		5	FAM98B	15	38776827	IGR	SNP	T	TCGA-MH-A560-01A-11D-A26P-10		38776827	63754565	38	45007											
ATAD5	79915	hgsc.bcm.edu	37	17	29162089	29162089	+	Silent	SNP	T	T	A			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr17:29162089T>A	ENST00000321990.4	+	2	1368	c.990T>A	c.(988-990)ccT>ccA	p.P330P	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	330					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)				AGGTTCACCCTATTCCGCCCA	0.378																																																0													49	51	50					17																	29162089		2139	4265	6404	SO:0001819	synonymous_variant	79915				CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"ATPases / AAA-type"	25752	protein-coding gene	gene with protein product	"enhanced level of genomic instability 1 homolog (S. cerevisiae)"	609534	"chromosome 17 open reading frame 41"	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.990T>A	chr17.hg19:g.29162089T>A			Q05DH0|Q69YR6|Q9H9I1	Silent	SNP	ENST00000321990.4	hg19	CCDS11260.1																																																																																				0.378	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		A	29162089	T	A	29162089	2	1	763	1	0	0	0	0	0	0	0	1	1076	1509	53	5		5	ATAD5	17	29162089	Silent	SNP	T	TCGA-MH-A560-01A-11D-A26P-10		29162089	52033121	39	45008											
ORMDL3	94103	hgsc.bcm.edu	37	17	38078866	38078866	+	Missense_Mutation	SNP	G	G	C			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr17:38078866G>C	ENST00000394169.1	-	6	1893	c.399C>G	c.(397-399)agC>agG	p.S133R	ORMDL3_ENST00000304046.2_Missense_Mutation_p.S133R|ORMDL3_ENST00000584220.1_Missense_Mutation_p.S117R|ORMDL3_ENST00000579695.1_Missense_Mutation_p.S133R			Q8N138	ORML3_HUMAN	ORMDL sphingolipid biosynthesis regulator 3	133					ceramide metabolic process (GO:0006672)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|SPOTS complex (GO:0035339)				endometrium(3)|kidney(1)|lung(1)	5	Colorectal(19;0.000442)		Lung(15;0.0234)			GGATAAGCACGCTCATCAGGG	0.557																																																0													149	142	144					17																	38078866		2203	4300	6503	SO:0001583	missense	94103				CCDS11355.1	17q12	2014-06-16	2014-06-16		ENSG00000172057	ENSG00000172057			16038	protein-coding gene	gene with protein product		610075	"ORM1 (S. cerevisiae)-like 3", "ORM1-like 3 (S. cerevisiae)"			23066021	Standard	NM_139280		Approved		uc002htj.2	Q8N138	OTTHUMG00000133249	ENST00000394169.1:c.399C>G	chr17.hg19:g.38078866G>C	ENSP00000377724:p.Ser133Arg		B3KS83|Q6UY83	Missense_Mutation	SNP	ENST00000394169.1	hg19	CCDS11355.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.582713	0.65992	.	.	ENSG00000172057	ENST00000304046;ENST00000394169	.	.	.	5.39	-5.34	0.02705	.	0.110120	0.64402	D	0.000008	T	0.59432	0.2193	M	0.65975	2.015	0.34860	D	0.74254	P	0.37573	0.6	P	0.47744	0.556	T	0.65915	-0.6052	9	0.51188	T	0.08	-14.1116	13.4255	0.61022	0.658:0.0:0.342:0.0	.	133	Q8N138	ORML3_HUMAN	R	133	.	ENSP00000304858:S133R	S	-	3	2	ORMDL3	35332392	0.062000	0.20869	0.906000	0.35671	0.939000	0.58152	-0.588000	0.05774	-1.031000	0.03308	-0.345000	0.07892	AGC		0.557	ORMDL3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257003.1	NM_139280		C	38078866	G	C	38078866	3	2	763	1	0	0	0	0	1	0	0	0	11273	1078	38	4	66	4	ORMDL3	17	38078866	Missense_Mutation	SNP	G	TCGA-MH-A560-01A-11D-A26P-10	8916777	38078866	43116344	40	45009											
HELZ	9931	hgsc.bcm.edu	37	17	65110487	65110487	+	Missense_Mutation	SNP	T	T	G			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr17:65110487T>G	ENST00000358691.5	-	28	4037	c.3871A>C	c.(3871-3873)Att>Ctt	p.I1291L	HELZ_ENST00000580168.1_Missense_Mutation_p.I1292L	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	1291						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)					ATCTTATTAATTTCAGGTCCG	0.348																																																0													152	136	141					17																	65110487		1802	4071	5873	SO:0001583	missense	9931			D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"Zinc fingers, CCCH-type domain containing"	16878	protein-coding gene	gene with protein product	"down-regulated in human cancers"	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.3871A>C	chr17.hg19:g.65110487T>G	ENSP00000351524:p.Ile1291Leu		I6L9H4	Missense_Mutation	SNP	ENST00000358691.5	hg19	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	T	12.72	2.022328	0.35701	.	.	ENSG00000198265	ENST00000358691	D	0.82344	-1.6	5.65	4.56	0.56223	.	0.541833	0.21875	N	0.067829	T	0.64283	0.2584	N	0.14661	0.345	0.28505	N	0.913814	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.50625	-0.8806	10	0.10111	T	0.7	-10.9431	7.073	0.25189	0.0:0.078:0.1469:0.7752	.	1292;1291	B7ZLW2;P42694	.;HELZ_HUMAN	L	1291	ENSP00000351524:I1291L	ENSP00000351524:I1291L	I	-	1	0	HELZ	62540949	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	2.522000	0.45572	2.154000	0.67381	0.445000	0.29226	ATT		0.348	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		G	65110487	T	G	65110487	3	3	763	1	0	0	0	0	1	0	0	0	7051	1493	52	5	1981	5	HELZ	17	65110487	Missense_Mutation	SNP	T	TCGA-MH-A560-01A-11D-A26P-10	27031621	65110487	16084723	41	45010											
UNC13D	201294	hgsc.bcm.edu	37	17	73831821	73831821	+	Missense_Mutation	SNP	C	C	T			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr17:73831821C>T	ENST00000207549.4	-	19	2013	c.1634G>A	c.(1633-1635)gGt>gAt	p.G545D	UNC13D_ENST00000412096.2_Missense_Mutation_p.G545D	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	545					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)			CACTACATCACCCACAACCGT	0.617									Familial Hemophagocytic Lymphohistiocytosis																																							0													66	65	65					17																	73831821		2203	4300	6503	SO:0001583	missense	201294	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	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.1634G>A	chr17.hg19:g.73831821C>T	ENSP00000207549:p.Gly545Asp		B4DWG9|Q9H7K5	Missense_Mutation	SNP	ENST00000207549.4	hg19	CCDS11730.1	.	.	.	.	.	.	.	.	.	.	C	2.310	-0.358240	0.05138	.	.	ENSG00000092929	ENST00000207549;ENST00000412096;ENST00000448606	T;T	0.70164	-0.44;-0.46	4.81	4.81	0.61882	.	0.476497	0.22373	N	0.060904	T	0.56441	0.1985	L	0.43152	1.355	0.09310	N	0.999998	B;B	0.06786	0.001;0.001	B;B	0.10450	0.005;0.002	T	0.37957	-0.9683	10	0.14656	T	0.56	-0.4305	13.3603	0.60652	0.0:1.0:0.0:0.0	.	545;545	Q70J99-3;Q70J99	.;UN13D_HUMAN	D	545	ENSP00000207549:G545D;ENSP00000388093:G545D	ENSP00000207549:G545D	G	-	2	0	UNC13D	71343416	0.024000	0.19004	0.057000	0.19452	0.016000	0.09150	2.518000	0.45537	2.202000	0.70862	0.561000	0.74099	GGT		0.617	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448847.2	XM_113950		T	73831821	C	T	73831821	3	4	763	1	0	0	0	0	1	0	0	0	16992	507	18	2	1694	2	UNC13D	17	73831821	Missense_Mutation	SNP	C	TCGA-MH-A560-01A-11D-A26P-10	8721334	73831821	7363389	42	45011											
LAMA3	3909	hgsc.bcm.edu	37	18	21511115	21511115	+	Frame_Shift_Del	DEL	G	G	-	rs546328935		TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr18:21511115delG	ENST00000313654.9	+	65	8767	c.8526delG	c.(8524-8526)acgfs	p.T2842fs	LAMA3_ENST00000399516.3_Frame_Shift_Del_p.T2786fs|LAMA3_ENST00000269217.6_Frame_Shift_Del_p.T1233fs|LAMA3_ENST00000587184.1_Frame_Shift_Del_p.T1177fs|LAMA3_ENST00000588770.1_3'UTR	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2842	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					CTCCACAGACGTATATGGATG	0.428																																																0													110	110	110					18																	21511115		2203	4300	6503	SO:0001589	frameshift_variant	3909			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"Laminins"	6483	protein-coding gene	gene with protein product		600805	"laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.8526delG	chr18.hg19:g.21511115delG	ENSP00000324532:p.Thr2842fs		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Frame_Shift_Del	DEL	ENST00000313654.9	hg19	CCDS42419.1																																																																																				0.428	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		-	21511115	G	-	21511115	7	5	763	1	0	1	0	1	0	0	0	0	8609	1132	40	0	8959	0	LAMA3	18	21511115	Frame_Shift_Del	DEL	G	TCGA-MH-A560-01A-11D-A26P-10		21511115	56566133	43	45012	480	2									
LAMA3	3909	hgsc.bcm.edu	37	18	21511118	21511118	+	Frame_Shift_Del	DEL	T	T	-			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr18:21511118delT	ENST00000313654.9	+	65	8770	c.8529delT	c.(8527-8529)tatfs	p.Y2843fs	LAMA3_ENST00000399516.3_Frame_Shift_Del_p.Y2787fs|LAMA3_ENST00000269217.6_Frame_Shift_Del_p.Y1234fs|LAMA3_ENST00000587184.1_Frame_Shift_Del_p.Y1178fs|LAMA3_ENST00000588770.1_3'UTR	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2843	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					CACAGACGTATATGGATGGTT	0.428																																																0													112	111	111					18																	21511118		2203	4300	6503	SO:0001589	frameshift_variant	3909			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"Laminins"	6483	protein-coding gene	gene with protein product		600805	"laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.8529delT	chr18.hg19:g.21511118delT	ENSP00000324532:p.Tyr2843fs		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Frame_Shift_Del	DEL	ENST00000313654.9	hg19	CCDS42419.1																																																																																				0.428	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		-	21511118	T	-	21511118	7	5	763	1	0	1	0	1	0	0	0	0	8609	1413	49	0	8962	0	LAMA3	18	21511118	Frame_Shift_Del	DEL	T	TCGA-MH-A560-01A-11D-A26P-10	3	21511118	56566130	44	45013	480	2									
CREB3L3	84699	hgsc.bcm.edu	37	19	4171149	4171149	+	Missense_Mutation	SNP	G	G	T			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr19:4171149G>T	ENST00000078445.2	+	8	1099	c.952G>T	c.(952-954)Gcc>Tcc	p.A318S	CREB3L3_ENST00000595923.1_Missense_Mutation_p.A317S|CREB3L3_ENST00000252587.3_Intron|CREB3L3_ENST00000602147.1_Missense_Mutation_p.S282I|CREB3L3_ENST00000602257.1_Missense_Mutation_p.A316S	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	318					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|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 positive regulation of transcription (GO:0001228)			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGCAAGTCAGCCCAGACAGG	0.607																																																0													75	70	72					19																	4171149		2203	4300	6503	SO:0001583	missense	84699				CCDS12121.1, CCDS62498.1, CCDS62499.1, CCDS62500.1	19p13.3	2013-01-10				ENSG00000060566		"basic leucine zipper proteins"	18855	protein-coding gene	gene with protein product		611998				11353085	Standard	NM_032607		Approved	CREB-H	uc002lzl.4	Q68CJ9		ENST00000078445.2:c.952G>T	chr19.hg19:g.4171149G>T	ENSP00000078445:p.Ala318Ser		B2R7S6|B7ZL69|M0QYW7|Q6ZMC5|Q96TB9	Missense_Mutation	SNP	ENST00000078445.2	hg19	CCDS12121.1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.462217	0.26248	.	.	ENSG00000060566	ENST00000078445;ENST00000381943	D	0.84800	-1.9	4.58	4.58	0.56647	.	0.130552	0.51477	D	0.000098	D	0.87172	0.6111	M	0.67569	2.06	0.52099	D	0.999947	D;P;P	0.62365	0.991;0.712;0.589	P;B;B	0.57204	0.815;0.396;0.223	D	0.84697	0.0726	10	0.26408	T	0.33	-0.2402	8.6838	0.34225	0.1062:0.0:0.8938:0.0	.	316;317;318	B7ZL69;Q68CJ9-2;Q68CJ9	.;.;CR3L3_HUMAN	S	318;276	ENSP00000078445:A318S	ENSP00000078445:A318S	A	+	1	0	CREB3L3	4122149	0.995000	0.38212	0.954000	0.39281	0.235000	0.25334	4.071000	0.57556	2.093000	0.63338	0.561000	0.74099	GCC		0.607	CREB3L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457922.1	NM_032607		T	4171149	G	T	4171149	3	4	763	1	0	0	0	0	1	0	0	0	3860	971	34	4	982	4	CREB3L3	19	4171149	Missense_Mutation	SNP	G	TCGA-MH-A560-01A-11D-A26P-10		4171149	54957834	45	45014											
ZNF227	7770	hgsc.bcm.edu	37	19	44739325	44739325	+	Nonsense_Mutation	SNP	A	A	T			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr19:44739325A>T	ENST00000313040.7	+	6	947	c.742A>T	c.(742-744)Aaa>Taa	p.K248*	ZNF227_ENST00000589005.1_Nonsense_Mutation_p.K197*|ZNF227_ENST00000391961.2_Nonsense_Mutation_p.K197*	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	248					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)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				CTTAGGAGAGAAACCCCATCC	0.428																																																0													50	52	51					19																	44739325		2203	4300	6503	SO:0001587	stop_gained	7770			AK092253	CCDS12636.1, CCDS74388.1	19q13.32	2013-01-08						"Zinc fingers, C2H2-type", "-"	13020	protein-coding gene	gene with protein product							Standard	XM_005259232		Approved		uc002oyu.3	Q86WZ6		ENST00000313040.7:c.742A>T	chr19.hg19:g.44739325A>T	ENSP00000321049:p.Lys248*		B3KRU7|B7Z5P9	Nonsense_Mutation	SNP	ENST00000313040.7	hg19	CCDS12636.1	.	.	.	.	.	.	.	.	.	.	A	37	6.426321	0.97559	.	.	ENSG00000131115	ENST00000313040;ENST00000328297;ENST00000391961;ENST00000418980	.	.	.	4.04	1.86	0.25419	.	.	.	.	.	.	.	.	.	.	.	0.23150	N	0.99822	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.6647	0.23035	0.7832:0.0:0.2168:0.0	.	.	.	.	X	248;205;197;227	.	ENSP00000321049:K248X	K	+	1	0	ZNF227	49431165	0.006000	0.16342	0.000000	0.03702	0.751000	0.42716	2.219000	0.42899	0.218000	0.20820	0.460000	0.39030	AAA		0.428	ZNF227-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460720.1	NM_182490		T	44739325	A	T	44739325	4	4	763	1	0	0	0	0	0	1	0	0	17786	247	9	5	756	5	ZNF227	19	44739325	Nonsense_Mutation	SNP	A	TCGA-MH-A560-01A-11D-A26P-10	40568176	44739325	14389658	46	45015											
SIGLEC5	8778	hgsc.bcm.edu	37	19	52131213	52131213	+	Missense_Mutation	SNP	T	T	A			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr19:52131213T>A	ENST00000534261.2	-	6	1270	c.871A>T	c.(871-873)Acc>Tcc	p.T291S	SIGLEC5_ENST00000599649.1_Missense_Mutation_p.T291S|SIGLEC5_ENST00000429354.3_Missense_Mutation_p.T291S|SIGLEC5_ENST00000222107.4_Missense_Mutation_p.T291S|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.T291S			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	291	Ig-like C2-type 2.				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)		GAGATGGGGGTGGCGTTCAGG	0.647																																																0													64	71	69					19																	52131213		2203	4300	6503	SO:0001583	missense	8778			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.871A>T	chr19.hg19:g.52131213T>A	ENSP00000473238:p.Thr291Ser			Missense_Mutation	SNP	ENST00000534261.2	hg19	CCDS33088.1	.	.	.	.	.	.	.	.	.	.	T	3.867	-0.028769	0.07589	.	.	ENSG00000105501	ENST00000222107;ENST00000429354	T;T	0.13420	2.59;2.59	3.76	-6.36	0.01969	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.943120	0.02702	N	0.111846	T	0.04952	0.0133	N	0.11560	0.145	0.09310	N	1	B	0.32829	0.386	B	0.35931	0.214	T	0.26883	-1.0090	10	0.02654	T	1	.	1.2256	0.01932	0.4652:0.1053:0.2382:0.1914	.	291	O15389	SIGL5_HUMAN	S	291	ENSP00000222107:T291S;ENSP00000415200:T291S	ENSP00000222107:T291S	T	-	1	0	SIGLEC5	56823025	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-1.639000	0.02011	-1.347000	0.02208	0.383000	0.25322	ACC		0.647	SIGLEC5-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466897.2	NM_003830		A	52131213	T	A	52131213	3	1	763	1	0	0	0	0	1	0	0	0	14317	1696	59	5	804	5	SIGLEC5	19	52131213	Missense_Mutation	SNP	T	TCGA-MH-A560-01A-11D-A26P-10	7391888	52131213	6997770	47	45016											
TGIF2	60436	hgsc.bcm.edu	37	20	35219589	35219589	+	Missense_Mutation	SNP	C	C	A			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr20:35219589C>A	ENST00000373874.2	+	3	668	c.469C>A	c.(469-471)Ctg>Atg	p.L157M	RP5-977B1.11_ENST00000561134.1_RNA|TGIF2_ENST00000373872.4_Missense_Mutation_p.L157M|TGIF2-C20orf24_ENST00000558530.1_Intron	NM_001199514.1|NM_001199515.1	NP_001186443.1|NP_001186444.1	Q9GZN2	TGIF2_HUMAN	TGFB-induced factor homeobox 2	157	Repressive function.				gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nodal signaling pathway (GO:0038092)|positive regulation of neuron differentiation (GO:0045666)|regulation of gastrulation (GO:0010470)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(3)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				TCCCAAGCCCCTGGTGACCCC	0.632																																																0													36	42	40					20																	35219589		2203	4300	6503	SO:0001583	missense	60436			AB042646	CCDS13278.1	20q11.23	2012-12-12	2007-02-07		ENSG00000118707	ENSG00000118707		"Homeoboxes / TALE class"	15764	protein-coding gene	gene with protein product		607294	"TGFB-induced factor 2 (TALE family homeobox)"			11006116	Standard	NM_021809		Approved		uc021wcv.1	Q9GZN2	OTTHUMG00000172332	ENST00000373874.2:c.469C>A	chr20.hg19:g.35219589C>A	ENSP00000362981:p.Leu157Met		B2R9U3|E1P5T9|H0YNI0	Missense_Mutation	SNP	ENST00000373874.2	hg19	CCDS13278.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.390012	0.42410	.	.	ENSG00000118707	ENST00000373874;ENST00000373872	T;T	0.65732	-0.17;-0.17	5.57	2.49	0.30216	.	3.072470	0.00622	N	0.000451	T	0.50718	0.1632	N	0.14661	0.345	0.80722	D	1	P	0.47106	0.89	P	0.44990	0.466	T	0.35822	-0.9773	10	0.46703	T	0.11	-14.2668	5.1002	0.14754	0.1452:0.6315:0.0:0.2233	.	157	Q9GZN2	TGIF2_HUMAN	M	157	ENSP00000362981:L157M;ENSP00000362979:L157M	ENSP00000362979:L157M	L	+	1	2	TGIF2	34653003	0.043000	0.20138	0.816000	0.32577	0.586000	0.36452	0.322000	0.19576	0.262000	0.21774	0.561000	0.74099	CTG		0.632	TGIF2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079004.2	NM_021809		A	35219589	C	A	35219589	3	1	763	1	0	0	0	0	1	0	0	0	15831	680	24	4	475	4	TGIF2	20	35219589	Missense_Mutation	SNP	C	TCGA-MH-A560-01A-11D-A26P-10		35219589	27805931	48	45017											
HNF4A	3172	hgsc.bcm.edu	37	20	43052875	43052876	+	Frame_Shift_Ins	INS	-	-	C			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr20:43052875_43052876insC	ENST00000316099.4	+	8	1199_1200	c.1110_1111insC	c.(1111-1113)cagfs	p.Q371fs	HNF4A_ENST00000457232.1_Frame_Shift_Ins_p.Q349fs|HNF4A_ENST00000609795.1_Frame_Shift_Ins_p.Q349fs|AL132772.1_ENST00000581483.1_RNA|HNF4A_ENST00000415691.2_Frame_Shift_Ins_p.Q371fs|HNF4A_ENST00000443598.2_Frame_Shift_Ins_p.Q371fs|HNF4A_ENST00000316673.4_Frame_Shift_Ins_p.Q349fs	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	371					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)			ACAACCTGTTGCAGGAGATGCT	0.609																																					Colon(79;2 1269 8820 14841 52347)											0																																										SO:0001589	frameshift_variant	3172			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.1111dupC	chr20.hg19:g.43052876_43052876dupC	ENSP00000312987:p.Gln371fs		A5JW41|B2RPP8|O00659|O00723|Q14540|Q5QPB8|Q6B4V5|Q6B4V6|Q6B4V7|Q92653|Q92654|Q92655|Q99864|Q9NQH0	Frame_Shift_Ins	INS	ENST00000316099.4	hg19	CCDS13330.1																																																																																				0.609	HNF4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079363.3			C	43052876	-	C	43052875	7	5	763	1	0	1	1	0	0	0	0	0	7255	1310	46	0	1193	0	HNF4A	20	43052875	Frame_Shift_Ins	INS	-	TCGA-MH-A560-01A-11D-A26P-10	7833286	43052875	19972645	49	45018											
SUSD2	56241	hgsc.bcm.edu	37	22	24583996	24583996	+	Missense_Mutation	SNP	C	C	A			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr22:24583996C>A	ENST00000358321.3	+	13	2495	c.2234C>A	c.(2233-2235)tCc>tAc	p.S745Y		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	745	Sushi. {ECO:0000255|PROSITE- ProRule:PRU00302}.				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						CTGGCGGGTTCCACCATCTAC	0.642																																																0													80	82	81					22																	24583996		2203	4300	6503	SO:0001583	missense	56241			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.2234C>A	chr22.hg19:g.24583996C>A	ENSP00000351075:p.Ser745Tyr		Q9H5Y6	Missense_Mutation	SNP	ENST00000358321.3	hg19	CCDS13824.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.366350	0.61513	.	.	ENSG00000099994	ENST00000358321	T	0.68181	-0.31	4.75	4.75	0.60458	Complement control module (2);Sushi/SCR/CCP (3);	0.119454	0.64402	D	0.000016	D	0.83403	0.5247	M	0.89414	3.03	0.41536	D	0.988484	D	0.76494	0.999	D	0.77004	0.989	D	0.86729	0.1947	10	0.72032	D	0.01	-53.0137	13.6888	0.62533	0.0:1.0:0.0:0.0	.	745	Q9UGT4	SUSD2_HUMAN	Y	745	ENSP00000351075:S745Y	ENSP00000351075:S745Y	S	+	2	0	SUSD2	22913996	0.999000	0.42202	0.998000	0.56505	0.451000	0.32288	4.155000	0.58131	2.383000	0.81215	0.505000	0.49811	TCC		0.642	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320088.1	NM_019601		A	24583996	C	A	24583996	3	1	763	1	0	0	0	0	1	0	0	0	15413	855	30	4	2284	4	SUSD2	22	24583996	Missense_Mutation	SNP	C	TCGA-MH-A560-01A-11D-A26P-10		24583996	26720570	50	45019											
CACNG2	10369	hgsc.bcm.edu	37	22	37098581	37098581	+	Missense_Mutation	SNP	G	G	T			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr22:37098581G>T	ENST00000300105.6	-	1	1022	c.41C>A	c.(40-42)aCc>aAc	p.T14N	RP1-293L6.1_ENST00000430281.1_RNA	NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	14					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						AGCACCAACGGTGGTTAAAAG	0.488																																																0													154	142	146					22																	37098581		2203	4300	6503	SO:0001583	missense	10369			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.41C>A	chr22.hg19:g.37098581G>T	ENSP00000300105:p.Thr14Asn		Q2M1M1|Q5TGT3|Q9UGZ7	Missense_Mutation	SNP	ENST00000300105.6	hg19	CCDS13931.1	.	.	.	.	.	.	.	.	.	.	g	19.64	3.865847	0.71949	.	.	ENSG00000166862	ENST00000300105	D	0.89681	-2.55	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	D	0.94971	0.8373	M	0.84948	2.725	0.80722	D	1	D	0.62365	0.991	D	0.76071	0.987	D	0.95765	0.8804	10	0.72032	D	0.01	-20.8031	17.8661	0.88795	0.0:0.0:1.0:0.0	.	14	Q9Y698	CCG2_HUMAN	N	14	ENSP00000300105:T14N	ENSP00000300105:T14N	T	-	2	0	CACNG2	35428527	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.265000	0.95647	2.192000	0.70111	0.546000	0.68486	ACC		0.488	CACNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075500.2			T	37098581	G	T	37098581	3	4	763	1	0	0	0	0	1	0	0	0	2559	1261	44	4	946	4	CACNG2	22	37098581	Missense_Mutation	SNP	G	TCGA-MH-A560-01A-11D-A26P-10	12514585	37098581	14205985	51	45020											
FAM47A	158724	hgsc.bcm.edu	37	X	34148936	34148936	+	Missense_Mutation	SNP	C	C	T			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chrX:34148936C>T	ENST00000346193.3	-	1	1511	c.1460G>A	c.(1459-1461)cGg>cAg	p.R487Q		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	487								p.R487Q(1)		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						ACTGGACCTCCGACGTGTCTT	0.642																																																1	Substitution - Missense(1)	large_intestine(1)											47	54	51					X																	34148936		2192	4286	6478	SO:0001583	missense	158724			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.1460G>A	chrX.hg19:g.34148936C>T	ENSP00000345029:p.Arg487Gln		A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	hg19	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	c	9.489	1.100058	0.20552	.	.	ENSG00000185448	ENST00000346193	T	0.16196	2.36	0.446	0.446	0.16602	.	.	.	.	.	T	0.10380	0.0254	N	0.24115	0.695	0.09310	N	1	D	0.62365	0.991	P	0.44811	0.461	T	0.23762	-1.0179	8	0.13470	T	0.59	.	.	.	.	.	487	Q5JRC9	FA47A_HUMAN	Q	487	ENSP00000345029:R487Q	ENSP00000345029:R487Q	R	-	2	0	FAM47A	34058857	0.022000	0.18835	0.006000	0.13384	0.016000	0.09150	0.010000	0.13242	0.435000	0.26365	0.183000	0.17082	CGG		0.642	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		T	34148936	C	T	34148936	3	4	763	1	0	0	0	0	1	0	0	0	5571	652	23	1	919	1	FAM47A	23	34148936	Missense_Mutation	SNP	C	TCGA-MH-A560-01A-11D-A26P-10		34148936	121121624	52	45021											
RBP7	116362	hgsc.bcm.edu	37	1	10068242	10068242	+	Missense_Mutation	SNP	C	C	G			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr1:10068242C>G	ENST00000294435.7	+	3	307	c.264C>G	c.(262-264)atC>atG	p.I88M		NM_052960.2	NP_443192.1	Q96R05	RET7_HUMAN	retinol binding protein 7, cellular	88						cytoplasm (GO:0005737)	retinal binding (GO:0016918)|retinol binding (GO:0019841)|transporter activity (GO:0005215)			endometrium(1)|large_intestine(1)	2		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|BRCA - Breast invasive adenocarcinoma(304;0.000302)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00856)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	GTTTGGTTATCTGGGACAATG	0.468																																																0													112	104	107					1																	10068242		2203	4300	6503	SO:0001583	missense	116362			AF399927	CCDS109.1	1p36.22	2013-03-01			ENSG00000162444	ENSG00000162444		"Fatty acid binding protein family"	30316	protein-coding gene	gene with protein product		608604				12177003	Standard	NM_052960		Approved	CRBPIV	uc001aqq.3	Q96R05	OTTHUMG00000001798	ENST00000294435.7:c.264C>G	chr1.hg19:g.10068242C>G	ENSP00000294435:p.Ile88Met		B2R517|Q5SWJ4	Missense_Mutation	SNP	ENST00000294435.7	hg19	CCDS109.1	.	.	.	.	.	.	.	.	.	.	C	6.871	0.529995	0.13127	.	.	ENSG00000162444	ENST00000315901;ENST00000294435	T	0.07688	3.17	4.07	0.988	0.19796	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.599344	0.15592	N	0.254321	T	0.07143	0.0181	N	0.19112	0.55	0.09310	N	0.99999	B	0.23650	0.089	B	0.37601	0.254	T	0.37526	-0.9702	10	0.87932	D	0	.	6.2468	0.20823	0.1332:0.6539:0.1302:0.0827	.	88	Q96R05	RET7_HUMAN	M	135;88	ENSP00000294435:I88M	ENSP00000294435:I88M	I	+	3	3	RBP7	9990829	0.000000	0.05858	0.746000	0.31095	0.291000	0.27294	-1.010000	0.03656	0.945000	0.37605	0.644000	0.83932	ATC		0.468	RBP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005027.2	NM_052960		G	10068242	C	G	10068242	3	3	764	1	0	0	0	0	1	0	0	0	13166	903	32	4	274	4	RBP7	1	10068242	Missense_Mutation	SNP	C	TCGA-MH-A561-01A-11D-A26P-10		10068242	239182379	1	45022											
PRDM2	7799	hgsc.bcm.edu	37	1	14108836	14108836	+	Missense_Mutation	SNP	C	C	T			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr1:14108836C>T	ENST00000235372.7	+	8	5402	c.4546C>T	c.(4546-4548)Cgg>Tgg	p.R1516W	PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.R1315W|PRDM2_ENST00000413440.1_Missense_Mutation_p.R1315W|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.R1516W	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1516					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)		CCACCGCAGACGGACAGCGGA	0.512																																																0													72	82	79					1																	14108836		2203	4300	6503	SO:0001583	missense	7799			U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"Chromatin-modifying enzymes / K-methyltransferases"	9347	protein-coding gene	gene with protein product	"retinoblastoma protein-binding zinc finger protein", "retinoblastoma protein-interacting zinc finger protein", "MTE-binding protein", "zinc-finger DNA-binding protein", "GATA-3 binding protein G3B"	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.4546C>T	chr1.hg19:g.14108836C>T	ENSP00000235372:p.Arg1516Trp		B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	hg19	CCDS150.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.127315	0.56721	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.02032	4.6;4.49;4.49;4.49	5.98	4.06	0.47325	.	0.060868	0.64402	D	0.000003	T	0.09598	0.0236	M	0.69823	2.125	0.49051	D	0.999741	D;B;B	0.89917	1.0;0.14;0.445	D;B;B	0.73708	0.981;0.015;0.034	T	0.00638	-1.1632	10	0.87932	D	0	.	8.67	0.34145	0.1498:0.7733:0.0:0.0769	.	1374;1516;1516	Q5THJ0;Q13029;Q13029-2	.;PRDM2_HUMAN;.	W	1516;1516;1516;1315;1315	ENSP00000235372:R1516W;ENSP00000312352:R1516W;ENSP00000411103:R1315W;ENSP00000341621:R1315W	ENSP00000235372:R1516W	R	+	1	2	PRDM2	13981423	0.364000	0.24997	0.793000	0.32043	0.983000	0.72400	0.980000	0.29513	0.815000	0.34398	0.591000	0.81541	CGG		0.512	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		T	14108836	C	T	14108836	3	4	764	1	0	0	0	0	1	0	0	0	12463	527	19	1	4572	1	PRDM2	1	14108836	Missense_Mutation	SNP	C	TCGA-MH-A561-01A-11D-A26P-10	4040594	14108836	235141785	2	45023											
E2F2	1870	hgsc.bcm.edu	37	1	23848337	23848337	+	Missense_Mutation	SNP	G	G	C			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr1:23848337G>C	ENST00000361729.2	-	3	996	c.570C>G	c.(568-570)atC>atG	p.I190M	E2F2_ENST00000487237.1_5'Flank	NM_004091.3	NP_004082.1	Q14209	E2F2_HUMAN	E2F transcription factor 2	190					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)			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)		ACACCCACTGGATGTTGTTCT	0.612																																																0													123	104	110					1																	23848337		2203	4300	6503	SO:0001583	missense	1870			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.570C>G	chr1.hg19:g.23848337G>C	ENSP00000355249:p.Ile190Met		B2R9W1|Q7Z6H1	Missense_Mutation	SNP	ENST00000361729.2	hg19	CCDS236.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.382364	0.61845	.	.	ENSG00000007968	ENST00000361729	T	0.15256	2.44	5.35	4.42	0.53409	Transcription factor E2F/dimerisation partner (TDP) (1);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.058637	0.64402	D	0.000003	T	0.48840	0.1522	M	0.93241	3.395	0.58432	D	0.999998	D	0.56968	0.978	D	0.65323	0.934	T	0.60865	-0.7178	10	0.87932	D	0	-24.1713	11.9214	0.52793	0.0:0.0:0.6839:0.3161	.	190	Q14209	E2F2_HUMAN	M	190	ENSP00000355249:I190M	ENSP00000355249:I190M	I	-	3	3	E2F2	23720924	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.406000	0.44557	1.212000	0.43366	0.591000	0.81541	ATC		0.612	E2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008885.1	NM_004091		C	23848337	G	C	23848337	3	2	764	1	0	0	0	0	1	0	0	0	4869	1164	41	4	763	4	E2F2	1	23848337	Missense_Mutation	SNP	G	TCGA-MH-A561-01A-11D-A26P-10	9739501	23848337	225402284	3	45024											
CD52	1043	hgsc.bcm.edu	37	1	26646661	26646661	+	Splice_Site	SNP	G	G	T			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr1:26646661G>T	ENST00000374213.2	+	2	115		c.e2-1		UBXN11_ENST00000374217.2_5'Flank|UBXN11_ENST00000374222.1_5'Flank	NM_001803.2	NP_001794.2	P31358	CD52_HUMAN	CD52 molecule						positive regulation of cytosolic calcium ion concentration (GO:0007204)|respiratory burst (GO:0045730)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				large_intestine(1)	1		all_cancers(24;5.02e-24)|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;7.56e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0137)|READ - Rectum adenocarcinoma(331;0.0649)	Alemtuzumab(DB00087)	TCCTCCTACAGATACAAACTG	0.488																																																0													108	108	108					1																	26646661		2203	4300	6503	SO:0001630	splice_region_variant	1043				CCDS30647.1	1p36	2008-02-05	2006-03-28	2005-02-07	ENSG00000169442	ENSG00000169442		"CD molecules"	1804	protein-coding gene	gene with protein product		114280	"CD52 antigen (CAMPATH-1 antigen)"	CDW52		1711975	Standard	NM_001803		Approved		uc001bmc.3	P31358	OTTHUMG00000003491	ENST00000374213.2:c.55-1G>T	chr1.hg19:g.26646661G>T			Q5T138|Q9BW46	Splice_Site	SNP	ENST00000374213.2	hg19	CCDS30647.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.299548	0.40694	.	.	ENSG00000169442	ENST00000374213	.	.	.	3.6	3.6	0.41247	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.042	0.47835	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CD52	26519248	0.969000	0.33509	0.935000	0.37517	0.213000	0.24496	3.220000	0.51207	2.312000	0.78011	0.655000	0.94253	.		0.488	CD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009704.1	NM_001803	Intron	T	26646661	G	T	26646661	5	4	764	1	0	0	0	0	0	0	1	0	3024	956	33	4	60	4	CD52	1	26646661	Splice_Site	SNP	G	TCGA-MH-A561-01A-11D-A26P-10	2798324	26646661	222603960	4	45025											
COL8A2	1296	hgsc.bcm.edu	37	1	36564106	36564106	+	Silent	SNP	A	A	G			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr1:36564106A>G	ENST00000397799.1	-	4	1400	c.1176T>C	c.(1174-1176)atT>atC	p.I392I	COL8A2_ENST00000303143.4_Silent_p.I392I|COL8A2_ENST00000481785.1_Silent_p.I327I			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	392	Triple-helical region.				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|collagen catabolic process (GO:0030574)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|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)			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGTCACCTCGAATGCCAGGCA	0.692																																																0													9	10	10					1																	36564106		2188	4274	6462	SO:0001819	synonymous_variant	1296			M60832	CCDS403.1, CCDS72756.1	1p34.2-p32.3	2014-02-14			ENSG00000171812	ENSG00000171812		"Collagens"	2216	protein-coding gene	gene with protein product		120252		FECD		11689488	Standard	XM_005270477		Approved	PPCD, FECD1, PPCD2	uc001bzv.2	P25067	OTTHUMG00000007665	ENST00000397799.1:c.1176T>C	chr1.hg19:g.36564106A>G			Q5JV31|Q8TEJ5	Silent	SNP	ENST00000397799.1	hg19	CCDS403.1																																																																																				0.692	COL8A2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313674.1	NM_005202		G	36564106	A	G	36564106	2	3	764	1	0	0	0	0	0	0	0	1	3708	242	9	3		3	COL8A2	1	36564106	Silent	SNP	A	TCGA-MH-A561-01A-11D-A26P-10	9917445	36564106	212686515	5	45026											
CDC20	991	hgsc.bcm.edu	37	1	43826814	43826814	+	Missense_Mutation	SNP	G	G	C			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr1:43826814G>C	ENST00000372462.1	+	8	1304	c.1101G>C	c.(1099-1101)caG>caC	p.Q367H	ELOVL1_ENST00000470769.1_5'Flank|CDC20_ENST00000310955.6_Missense_Mutation_p.Q367H|RP1-92O14.3_ENST00000424948.1_RNA			Q12834	CDC20_HUMAN	cell division cycle 20	367					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle (GO:0007049)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein ubiquitination (GO:0016567)|regulation of dendrite development (GO:0050773)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|spindle (GO:0005819)	enzyme binding (GO:0019899)|protein C-terminus binding (GO:0008022)			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GTCCCTGGCAGTCCAATGTCC	0.572																																					Esophageal Squamous(137;1154 1759 10362 10401 46925)											0													85	76	79					1																	43826814		2203	4300	6503	SO:0001583	missense	991			U05340	CCDS484.1	1p34.1	2013-01-17	2013-01-17		ENSG00000117399	ENSG00000117399		"WD repeat domain containing"	1723	protein-coding gene	gene with protein product		603618	"CDC20 (cell division cycle 20, S. cerevisiae, homolog)", "CDC20 cell division cycle 20 homolog (S. cerevisiae)", "cell division cycle 20 homolog (S. cerevisiae)"			7513050, 9353311	Standard	NM_001255		Approved	p55CDC, CDC20A	uc001cix.3	Q12834	OTTHUMG00000007420	ENST00000372462.1:c.1101G>C	chr1.hg19:g.43826814G>C	ENSP00000361540:p.Gln367His		B2R6Z6|D3DPJ1|Q5JUY4|Q9BW56|Q9UQI9	Missense_Mutation	SNP	ENST00000372462.1	hg19	CCDS484.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.886198	0.51908	.	.	ENSG00000117399	ENST00000437896;ENST00000310955;ENST00000372462	T;T	0.29397	1.57;1.57	5.73	0.649	0.17806	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	0.27098	0.0664	L	0.33668	1.02	0.58432	D	0.999997	P	0.38992	0.653	P	0.45099	0.469	T	0.04481	-1.0948	10	0.62326	D	0.03	-17.7133	9.4478	0.38708	0.4049:0.0:0.5951:0.0	.	367	Q12834	CDC20_HUMAN	H	343;367;367	ENSP00000308450:Q367H;ENSP00000361540:Q367H	ENSP00000308450:Q367H	Q	+	3	2	CDC20	43599401	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	3.104000	0.50306	0.090000	0.17273	-0.291000	0.09656	CAG		0.572	CDC20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019488.1	NM_001255		C	43826814	G	C	43826814	3	2	764	1	0	0	0	0	1	0	0	0	3061	1020	36	4	1131	4	CDC20	1	43826814	Missense_Mutation	SNP	G	TCGA-MH-A561-01A-11D-A26P-10	7262708	43826814	205423807	6	45027											
KLF17	128209	hgsc.bcm.edu	37	1	44595144	44595144	+	Missense_Mutation	SNP	G	G	T			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr1:44595144G>T	ENST00000372299.3	+	2	259	c.201G>T	c.(199-201)atG>atT	p.M67I	KLF17_ENST00000476802.1_3'UTR	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	67					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)					GCGCAGAGATGCTGGGGTCCC	0.547																																																0													77	68	71					1																	44595144		2203	4300	6503	SO:0001583	missense	128209			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.201G>T	chr1.hg19:g.44595144G>T	ENSP00000361373:p.Met67Ile		Q86VQ7|Q8N805	Missense_Mutation	SNP	ENST00000372299.3	hg19	CCDS508.1	.	.	.	.	.	.	.	.	.	.	G	12.28	1.890870	0.33348	.	.	ENSG00000171872	ENST00000372299	T	0.07327	3.2	4.58	3.66	0.41972	.	0.565978	0.16022	N	0.233274	T	0.05960	0.0155	N	0.19112	0.55	0.09310	N	1	B	0.26809	0.16	B	0.19946	0.027	T	0.30179	-0.9987	10	0.49607	T	0.09	.	10.2955	0.43620	0.0:0.0:0.804:0.196	.	67	Q5JT82	KLF17_HUMAN	I	67	ENSP00000361373:M67I	ENSP00000361373:M67I	M	+	3	0	KLF17	44367731	0.376000	0.25098	0.006000	0.13384	0.003000	0.03518	1.800000	0.38833	1.520000	0.48965	0.650000	0.86243	ATG		0.547	KLF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026646.1	NM_173484		T	44595144	G	T	44595144	3	4	764	1	0	0	0	0	1	0	0	0	8347	1319	46	4	207	4	KLF17	1	44595144	Missense_Mutation	SNP	G	TCGA-MH-A561-01A-11D-A26P-10	768330	44595144	204655477	7	45028											
GPBP1L1	60313	hgsc.bcm.edu	37	1	46124748	46124748	+	Silent	SNP	A	A	G			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr1:46124748A>G	ENST00000290795.3	-	3	1233	c.12T>C	c.(10-12)caT>caC	p.H4H	GPBP1L1_ENST00000355105.3_Silent_p.H4H			Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	4					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)					GAACAAAATCATGCTGCGCCA	0.428																																																0													146	137	140					1																	46124748		2203	4300	6503	SO:0001819	synonymous_variant	60313				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.12T>C	chr1.hg19:g.46124748A>G			D3DQ10|Q9H751	Silent	SNP	ENST00000290795.3	hg19	CCDS528.1																																																																																				0.428	GPBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098375.1	NM_021639		G	46124748	A	G	46124748	2	3	764	1	0	0	0	0	0	0	0	1	6598	214	8	3		3	GPBP1L1	1	46124748	Silent	SNP	A	TCGA-MH-A561-01A-11D-A26P-10	1529604	46124748	203125873	8	45029											
AGBL4	84871	hgsc.bcm.edu	37	1	48999847	48999847	+	Nonstop_Mutation	SNP	A	A	G			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr1:48999847A>G	ENST00000371839.1	-	14	1626	c.1510T>C	c.(1510-1512)Taa>Caa	p.*504Q	AGBL4_ENST00000334103.7_Nonstop_Mutation_p.*228Q	NM_032785.3	NP_116174.3	Q5VU57	CBPC6_HUMAN	ATP/GTP binding protein-like 4	0					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15				Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037)		CCGTGTCTTTAAAAAGGGGTT	0.507																																																0													168	152	157					1																	48999847		692	1591	2283	SO:0001578	stop_lost	84871			AK027348	CCDS44137.1	1p33	2014-06-23			ENSG00000186094	ENSG00000186094			25892	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 6"					21074048	Standard	NM_032785		Approved	FLJ14442, CCP6	uc001cru.2	Q5VU57	OTTHUMG00000007793	ENST00000371839.1:c.1510T>C	chr1.hg19:g.48999847A>G	ENSP00000360905:p.*504Gluext*27		B3KT26|B4DG37	Missense_Mutation	SNP	ENST00000371839.1	hg19	CCDS44137.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.7|21.7	4.181371|4.181371	0.78677|0.78677	.|.	.|.	ENSG00000186094|ENSG00000186094	ENST00000411952|ENST00000371839;ENST00000334103	.|.	.|.	.|.	5.35|5.35	5.35|5.35	0.76521|0.76521	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.18873|0.18873	N|N	0.999988|0.999988	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	11.9|11.9	0.52678|0.52678	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|.	.|.	.|.	.|Q	-1|504;228	.|.	.|.	.|X	-|-	.|1	.|0	AGBL4|AGBL4	48772434|48772434	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.851000|0.851000	0.48451|0.48451	3.026000|3.026000	0.49689|0.49689	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	.|TAA		0.507	AGBL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021346.4	NM_032785		G	48999847	A	G	48999847	4	3	764	1	0	0	0	0	0	0	0	0	377	375	13	3	5	3	AGBL4	1	48999847	Nonstop_Mutation	SNP	A	TCGA-MH-A561-01A-11D-A26P-10	2875099	48999847	200250774	9	45030											
FNBP1L	54874	hgsc.bcm.edu	37	1	93965136	93965136	+	Missense_Mutation	SNP	T	T	A			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr1:93965136T>A	ENST00000271234.7	+	2	287	c.136T>A	c.(136-138)Ttg>Atg	p.L46M	FNBP1L_ENST00000604705.1_Missense_Mutation_p.L46M|FNBP1L_ENST00000260506.8_Missense_Mutation_p.L46M|FNBP1L_ENST00000370253.2_Missense_Mutation_p.L46M|FNBP1L_ENST00000370256.4_Missense_Mutation_p.L46M	NM_001164473.2	NP_001157945.1	Q5T0N5	FBP1L_HUMAN	formin binding protein 1-like	46	F-BAR domain. {ECO:0000250}.|FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				autophagy (GO:0006914)|clathrin-mediated endocytosis (GO:0072583)|membrane budding (GO:0006900)|membrane invagination (GO:0010324)|membrane tubulation (GO:0097320)|positive regulation of filopodium assembly (GO:0051491)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1)	11		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)		TGCGAAACAATTGAGGTAAGT	0.308																																																0													46	44	45					1																	93965136		1815	4062	5877	SO:0001583	missense	54874				CCDS53343.1, CCDS53344.1, CCDS60192.1	1p22.1	2008-02-05	2004-11-16	2004-11-17	ENSG00000137942	ENSG00000137942			20851	protein-coding gene	gene with protein product		608848	"chromosome 1 open reading frame 39"	C1orf39		14654988	Standard	NM_017737		Approved	TOCA1, FLJ20275	uc010otk.2	Q5T0N5	OTTHUMG00000010863	ENST00000271234.7:c.136T>A	chr1.hg19:g.93965136T>A	ENSP00000271234:p.Leu46Met		J3QSS4|Q5T0N6|Q6B097|Q6P653|Q6R4Q4|Q9NXG1	Missense_Mutation	SNP	ENST00000271234.7	hg19	CCDS53343.1	.	.	.	.	.	.	.	.	.	.	T	18.19	3.568848	0.65765	.	.	ENSG00000137942	ENST00000370256;ENST00000271234;ENST00000260506;ENST00000370253	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	5.55	2.05	0.26809	.	0.000000	0.85682	D	0.000000	T	0.69223	0.3087	M	0.84326	2.69	0.80722	D	1	D;P	0.54207	0.965;0.938	P;P	0.61328	0.887;0.855	T	0.69847	-0.5034	10	0.54805	T	0.06	-7.6767	6.8376	0.23945	0.0:0.465:0.0:0.535	.	46;46	Q5T0N5-4;Q5T0N5-3	.;.	M	46	ENSP00000359278:L46M;ENSP00000271234:L46M;ENSP00000260506:L46M;ENSP00000359275:L46M	ENSP00000260506:L46M	L	+	1	2	FNBP1L	93737724	0.711000	0.27906	0.997000	0.53966	0.913000	0.54294	0.165000	0.16564	0.401000	0.25424	-0.605000	0.04089	TTG		0.308	FNBP1L-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_017737		A	93965136	T	A	93965136	3	1	764	1	0	0	0	0	1	0	0	0	5968	1490	52	5	142	5	FNBP1L	1	93965136	Missense_Mutation	SNP	T	TCGA-MH-A561-01A-11D-A26P-10	44965289	93965136	155285485	10	45031											
ABCA4	24	hgsc.bcm.edu	37	1	94522320	94522320	+	Frame_Shift_Del	DEL	A	A	-			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr1:94522320delA	ENST00000370225.3	-	15	2305	c.2219delT	c.(2218-2220)ttcfs	p.F740fs	ABCA4_ENST00000535735.1_Intron	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	740					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)		GGCAGTGGAGAAAGCCAACAA	0.517																																																0													111	98	102					1																	94522320		2203	4300	6503	SO:0001589	frameshift_variant	24			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.2219delT	chr1.hg19:g.94522320delA	ENSP00000359245:p.Phe740fs		O15112|O60438|O60915|Q0QD48|Q4LE31	Frame_Shift_Del	DEL	ENST00000370225.3	hg19	CCDS747.1																																																																																				0.517	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		-	94522320	A	-	94522320	7	5	764	1	0	1	0	1	0	0	0	0	34	246	9	0	4746	0	ABCA4	1	94522320	Frame_Shift_Del	DEL	A	TCGA-MH-A561-01A-11D-A26P-10	557184	94522320	154728301	11	45032											
AQP10	89872	hgsc.bcm.edu	37	1	154296801	154296801	+	Missense_Mutation	SNP	G	G	T			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr1:154296801G>T	ENST00000324978.3	+	6	791	c.751G>T	c.(751-753)Gtg>Ttg	p.V251L	ATP8B2_ENST00000368487.3_5'Flank|AQP10_ENST00000484864.1_3'UTR	NM_080429.2	NP_536354.2	Q96PS8	AQP10_HUMAN	aquaporin 10	251					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)			GGCCCCTCTGGTGGGGGCCAC	0.602											OREG0013832	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													32	35	34					1																	154296801		2201	4290	6491	SO:0001583	missense	89872			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.751G>T	chr1.hg19:g.154296801G>T	ENSP00000318355:p.Val251Leu	1762	Q5VYD3|Q5VYD4|Q8NG70	Missense_Mutation	SNP	ENST00000324978.3	hg19	CCDS1065.1	.	.	.	.	.	.	.	.	.	.	G	5.726	0.318459	0.10845	.	.	ENSG00000143595	ENST00000324978	D	0.88124	-2.34	4.46	4.46	0.54185	Aquaporin-like (2);	0.142496	0.45126	D	0.000385	T	0.65688	0.2715	L	0.28608	0.87	0.80722	D	1	B	0.32939	0.391	B	0.34722	0.188	T	0.67345	-0.5694	10	0.02654	T	1	.	12.9205	0.58230	0.0:0.1648:0.8352:0.0	.	251	Q96PS8	AQP10_HUMAN	L	251	ENSP00000318355:V251L	ENSP00000318355:V251L	V	+	1	0	AQP10	152563425	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	1.571000	0.36450	2.510000	0.84645	0.555000	0.69702	GTG		0.602	AQP10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087661.1	NM_080429		T	154296801	G	T	154296801	3	4	764	1	0	0	0	0	1	0	0	0	822	1261	44	4	773	4	AQP10	1	154296801	Missense_Mutation	SNP	G	TCGA-MH-A561-01A-11D-A26P-10	59774481	154296801	94953820	12	45033											
CENPL	91687	hgsc.bcm.edu	37	1	173772297	173772298	+	Frame_Shift_Ins	INS	-	-	T	rs139873333	byFrequency	TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr1:173772297_173772298insT	ENST00000345664.6	-	4	979_980	c.766_767insA	c.(766-768)atafs	p.I256fs	CENPL_ENST00000356198.2_Frame_Shift_Ins_p.I302fs|CENPL_ENST00000367710.3_Frame_Shift_Ins_p.I256fs	NM_001171182.1	NP_001164653.1	Q8N0S6	CENPL_HUMAN	centromere protein L	256					mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(3)	11						CTCTGGATGTATTGCGAAAGAA	0.45																																																0																																										SO:0001589	frameshift_variant	91687			BC033154, BC019022, AK055606	CCDS30938.1, CCDS44277.1	1q25.1	2013-11-05	2006-06-15	2006-06-15	ENSG00000120334	ENSG00000120334			17879	protein-coding gene	gene with protein product		611503	"chromosome 1 open reading frame 155"	C1orf155		16622420, 16622419	Standard	NM_033319		Approved	dJ383J4.3, FLJ31044	uc001gje.4	Q8N0S6	OTTHUMG00000034802	ENST00000345664.6:c.767dupA	chr1.hg19:g.173772299_173772299dupT	ENSP00000323543:p.Ile256fs		Q5TEL5|Q96ND4	Frame_Shift_Ins	INS	ENST00000345664.6	hg19	CCDS30938.1																																																																																				0.45	CENPL-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084213.1	NM_033319		T	173772298	-	T	173772297	7	5	764	1	0	1	1	0	0	0	0	0	3238	449	16	0	275	0	CENPL	1	173772297	Frame_Shift_Ins	INS	-	TCGA-MH-A561-01A-11D-A26P-10	19475496	173772297	75478324	13	45034	481	2									
CENPL	91687	hgsc.bcm.edu	37	1	173772300	173772300	+	Missense_Mutation	SNP	G	G	T			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr1:173772300G>T	ENST00000345664.6	-	4	977	c.764C>A	c.(763-765)gCa>gAa	p.A255E	CENPL_ENST00000356198.2_Missense_Mutation_p.A301E|CENPL_ENST00000367710.3_Missense_Mutation_p.A255E	NM_001171182.1	NP_001164653.1	Q8N0S6	CENPL_HUMAN	centromere protein L	255					mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(3)	11						TGGATGTATTGCGAAAGAAAT	0.458																																																0													95	97	96					1																	173772300		2203	4300	6503	SO:0001583	missense	91687			BC033154, BC019022, AK055606	CCDS30938.1, CCDS44277.1	1q25.1	2013-11-05	2006-06-15	2006-06-15	ENSG00000120334	ENSG00000120334			17879	protein-coding gene	gene with protein product		611503	"chromosome 1 open reading frame 155"	C1orf155		16622420, 16622419	Standard	NM_033319		Approved	dJ383J4.3, FLJ31044	uc001gje.4	Q8N0S6	OTTHUMG00000034802	ENST00000345664.6:c.764C>A	chr1.hg19:g.173772300G>T	ENSP00000323543:p.Ala255Glu		Q5TEL5|Q96ND4	Missense_Mutation	SNP	ENST00000345664.6	hg19	CCDS30938.1	.	.	.	.	.	.	.	.	.	.	G	18.51	3.640619	0.67244	.	.	ENSG00000120334	ENST00000356198;ENST00000345664;ENST00000367710	T;T;T	0.41758	1.58;0.99;0.99	5.24	5.24	0.73138	.	0.172946	0.50627	D	0.000109	T	0.47691	0.1459	L	0.43152	1.355	0.39487	D	0.967975	D;P	0.69078	0.997;0.896	D;P	0.63283	0.913;0.602	T	0.50882	-0.8775	10	0.72032	D	0.01	-5.8243	17.633	0.88114	0.0:0.0:1.0:0.0	.	301;255	Q8N0S6-2;Q8N0S6	.;CENPL_HUMAN	E	301;255;255	ENSP00000348527:A301E;ENSP00000323543:A255E;ENSP00000356683:A255E	ENSP00000323543:A255E	A	-	2	0	CENPL	172038923	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	5.635000	0.67841	2.456000	0.83038	0.655000	0.94253	GCA		0.458	CENPL-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084213.1	NM_033319		T	173772300	G	T	173772300	3	4	764	1	0	0	0	0	1	0	0	0	3238	1319	46	4	278	4	CENPL	1	173772300	Missense_Mutation	SNP	G	TCGA-MH-A561-01A-11D-A26P-10	3	173772300	75478321	14	45035	481	2									
RFWD2	64326	hgsc.bcm.edu	37	1	175996826	175996826	+	Splice_Site	SNP	T	T	C			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr1:175996826T>C	ENST00000367669.3	-	15	2127		c.e15-2		RFWD2_ENST00000308769.8_Splice_Site	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase						DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin protein ligase activity (GO:0061630)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						ACAGCTTCACTAAGGGCAAAG	0.388																																					Ovarian(134;1413 1765 5706 35534 51541)											0													63	54	57					1																	175996826		2203	4300	6503	SO:0001630	splice_region_variant	64326			AK001278	CCDS30944.1, CCDS44279.1	1q25.1-q25.2	2013-01-09	2012-02-23		ENSG00000143207	ENSG00000143207		"WD repeat domain containing", "RING-type (C3HC4) zinc fingers"	17440	protein-coding gene	gene with protein product		608067	"ring finger and WD repeat domain 2"			10395541	Standard	XM_005245447		Approved	FLJ10416, COP1, RNF200	uc001gku.1	Q8NHY2	OTTHUMG00000034986	ENST00000367669.3:c.1613-2A>G	chr1.hg19:g.175996826T>C			E9PKI0|Q504W6|Q6H103|Q9H6L7|X5D9B4	Splice_Site	SNP	ENST00000367669.3	hg19	CCDS30944.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.586435	0.86851	.	.	ENSG00000143207	ENST00000367665;ENST00000367669;ENST00000367666;ENST00000308769	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6701	0.77267	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	RFWD2	174263449	1.000000	0.71417	0.986000	0.45419	0.994000	0.84299	7.563000	0.82314	2.174000	0.68829	0.528000	0.53228	.		0.388	RFWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084672.2	NM_022457	Intron	C	175996826	T	C	175996826	5	2	764	1	0	0	0	0	0	0	1	0	13266	1536	53	3	608	3	RFWD2	1	175996826	Splice_Site	SNP	T	TCGA-MH-A561-01A-11D-A26P-10	2224526	175996826	73253795	15	45036											
CEP350	9857	hgsc.bcm.edu	37	1	179959644	179959645	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	GA	GA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr1:179959644_179959645delGA	ENST00000367607.3	+	4	541_542	c.123_124delGA	c.(121-126)ctgagafs	p.R42fs		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	42					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						AACTTTAGCTGAGACACATTGA	0.337																																																0																																										SO:0001589	frameshift_variant	9857			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.123_124delGA	chr1.hg19:g.179959646_179959647delGA	ENSP00000356579:p.Arg42fs		O75068|Q8TDK3|Q8WY20	Frame_Shift_Del	DEL	ENST00000367607.3	hg19	CCDS1336.1																																																																																				0.337	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		-	179959645	GA	-	179959644	7	5	764	1	0	1	0	1	0	0	0	0	3256	1277	45	0	133	0	CEP350	1	179959644	Frame_Shift_Del	DEL	GA	TCGA-MH-A561-01A-11D-A26P-10	3962818	179959644	69290977	16	45037											
ETNK2	55224	hgsc.bcm.edu	37	1	204101322	204101322	+	Missense_Mutation	SNP	A	A	T			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr1:204101322A>T	ENST00000367202.4	-	8	1301	c.1151T>A	c.(1150-1152)aTg>aAg	p.M384K	RP11-74C13.4_ENST00000565388.1_RNA|ETNK2_ENST00000367199.2_Missense_Mutation_p.M315K|ETNK2_ENST00000367198.2_Missense_Mutation_p.M206K|ETNK2_ENST00000367201.3_3'UTR|ETNK2_ENST00000367197.1_Missense_Mutation_p.M66K	NM_018208.2	NP_060678.2	Q9NVF9	EKI2_HUMAN	ethanolamine kinase 2	384					glycerophospholipid biosynthetic process (GO:0046474)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|placenta development (GO:0001890)|post-embryonic development (GO:0009791)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ethanolamine kinase activity (GO:0004305)			breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1)	7	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			TCACTTTGGCATCTCCAAGGC	0.557																																																0													80	77	78					1																	204101322		1564	3580	5144	SO:0001583	missense	55224			AK001623	CCDS1442.2, CCDS73006.1	1q32.1	2008-02-05			ENSG00000143845	ENSG00000143845			25575	protein-coding gene	gene with protein product		609859				12477932	Standard	XM_005245302		Approved	FLJ10761, EKI2	uc001hao.4	Q9NVF9	OTTHUMG00000036061	ENST00000367202.4:c.1151T>A	chr1.hg19:g.204101322A>T	ENSP00000356170:p.Met384Lys		B7Z7K1|Q5SXX5|Q68CK3|Q96G05	Missense_Mutation	SNP	ENST00000367202.4	hg19	CCDS1442.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.99|18.99	3.740600|3.740600	0.69304|0.69304	.|.	.|.	ENSG00000143845|ENSG00000143845	ENST00000422072|ENST00000367202;ENST00000367199;ENST00000455266;ENST00000367198;ENST00000367197	.|T;T;T;T	.|0.64260	.|0.34;-0.02;-0.02;-0.09	5.0|5.0	3.82|3.82	0.43975|0.43975	.|.	.|.	.|.	.|.	.|.	T|T	0.62780|0.62780	0.2456|0.2456	L|L	0.58669|0.58669	1.825|1.825	0.38499|0.38499	D|D	0.948185|0.948185	.|P;P	.|0.46859	.|0.877;0.885	.|P;B	.|0.50754	.|0.649;0.446	T|T	0.62305|0.62305	-0.6882|-0.6882	5|9	.|0.28530	.|T	.|0.3	.|.	8.0791|8.0791	0.30733|0.30733	0.7042:0.0:0.0:0.2958|0.7042:0.0:0.0:0.2958	.|.	.|343;384	.|Q9NVF9-3;Q9NVF9	.|.;EKI2_HUMAN	S|K	147|384;315;250;206;66	.|ENSP00000356170:M384K;ENSP00000356167:M315K;ENSP00000356166:M206K;ENSP00000356165:M66K	.|ENSP00000356165:M66K	C|M	-|-	1|2	0|0	ETNK2|ETNK2	202367945|202367945	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.878000|0.878000	0.50629|0.50629	6.504000|6.504000	0.73704|0.73704	1.880000|1.880000	0.54463|0.54463	0.533000|0.533000	0.62120|0.62120	TGC|ATG		0.557	ETNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087893.1	NM_018208		T	204101322	A	T	204101322	3	4	764	1	0	0	0	0	1	0	0	0	5276	217	8	5	13	5	ETNK2	1	204101322	Missense_Mutation	SNP	A	TCGA-MH-A561-01A-11D-A26P-10	24141678	204101322	45149299	17	45038											
C1orf107	27042	hgsc.bcm.edu	37	1	210006562	210006562	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr1:210006562G>T	ENST00000491415.2	+	4	478	c.421G>T	c.(421-423)Gaa>Taa	p.E141*		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	141	Glu-rich.				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						TGAGGGAAAAGAAGATGGGGA	0.398																																																0													59	56	57					1																	210006562		2203	4300	6503	SO:0001587	stop_gained	27042			BC022964	CCDS1493.1	1q32.2	2011-08-12	2011-02-16	2011-02-16	ENSG00000117597	ENSG00000117597			28440	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 107"	C1orf107		16322560	Standard	NM_014388		Approved	MGC29875, DEF, UTP25	uc001hhr.2	Q68CQ4	OTTHUMG00000036654	ENST00000491415.2:c.421G>T	chr1.hg19:g.210006562G>T	ENSP00000419005:p.Glu141*		O75992|Q4VY00|Q63HL9	Nonsense_Mutation	SNP	ENST00000491415.2	hg19	CCDS1493.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.380543	0.82792	.	.	ENSG00000117597	ENST00000491415	.	.	.	0.225	0.225	0.15325	.	1.807870	0.04544	U	0.388703	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	.	.	.	.	.	.	.	X	141	.	ENSP00000419005:E141X	E	+	1	0	DIEXF	208073185	0.949000	0.32298	0.212000	0.23672	0.934000	0.57294	0.364000	0.20325	0.300000	0.22699	0.305000	0.20034	GAA		0.398	DIEXF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089127.2	NM_014388		T	210006562	G	T	210006562	4	4	764	1	0	0	0	0	0	1	0	0	1983	943	33	4	435	4	C1orf107	1	210006562	Nonsense_Mutation	SNP	G	TCGA-MH-A561-01A-11D-A26P-10	5905240	210006562	39244059	18	45039											
CENPF	1063	hgsc.bcm.edu	37	1	214820696	214820696	+	Missense_Mutation	SNP	A	A	T			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr1:214820696A>T	ENST00000366955.3	+	13	7951	c.7783A>T	c.(7783-7785)Aat>Tat	p.N2595Y		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2691	Sufficient for centromere localization.|Sufficient for self-association.				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)		GAATCTAGAGAATGAGCTTGA	0.378																																					Colon(80;575 1284 11000 14801 43496)											0													37	37	37					1																	214820696		2203	4300	6503	SO:0001583	missense	1063			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"mitosin"	600236	"centromere protein F, 350/400kDa (mitosin)"			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.7783A>T	chr1.hg19:g.214820696A>T	ENSP00000355922:p.Asn2595Tyr		Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	hg19	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	A	12.11	1.839067	0.32513	.	.	ENSG00000117724	ENST00000366955	T	0.03301	3.98	5.61	3.16	0.36331	.	0.728326	0.11309	N	0.577293	T	0.03608	0.0103	N	0.19112	0.55	0.25270	N	0.989526	P	0.51653	0.947	P	0.44732	0.459	T	0.45963	-0.9225	10	0.59425	D	0.04	.	7.1052	0.25360	0.777:0.1469:0.0761:0.0	.	2691	P49454	CENPF_HUMAN	Y	2595	ENSP00000355922:N2595Y	ENSP00000355922:N2595Y	N	+	1	0	CENPF	212887319	1.000000	0.71417	0.126000	0.21872	0.167000	0.22549	1.705000	0.37867	0.427000	0.26145	0.496000	0.49642	AAT		0.378	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		T	214820696	A	T	214820696	3	4	764	1	0	0	0	0	1	0	0	0	3233	246	9	5	7829	5	CENPF	1	214820696	Missense_Mutation	SNP	A	TCGA-MH-A561-01A-11D-A26P-10	4814134	214820696	34429925	19	45040											
FBXO11	80204	hgsc.bcm.edu	37	2	48040950	48040950	+	Missense_Mutation	SNP	C	C	T			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr2:48040950C>T	ENST00000403359.3	-	17	2135	c.2063G>A	c.(2062-2064)gGa>gAa	p.G688E	FBXO11_ENST00000316377.4_Missense_Mutation_p.G604E|FBXO11_ENST00000434523.2_Missense_Mutation_p.G112E|FBXO11_ENST00000402508.1_Missense_Mutation_p.G604E	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	688					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)			AACTAGAATTCCACCATTCTG	0.388			"Mis, F, D"		DLBCL																																		Rec	yes		2	2p16.3	80204	F-box protein 11		L	2	Whole gene deletion(2)	haematopoietic_and_lymphoid_tissue(2)											118	116	117					2																	48040950		2202	4300	6502	SO:0001583	missense	80204			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.2063G>A	chr2.hg19:g.48040950C>T	ENSP00000384823:p.Gly688Glu		A1L491|Q52ZP1|Q53EP7|Q53RT5|Q8IXG3|Q96E90|Q9H6V8|Q9H9L1|Q9NR14|Q9UFK1|Q9UHI1|Q9UKC2	Missense_Mutation	SNP	ENST00000403359.3	hg19	CCDS54357.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.136371|5.136371	0.94517|0.94517	.|.	.|.	ENSG00000138081|ENSG00000138081	ENST00000402508;ENST00000403359;ENST00000316377;ENST00000434523|ENST00000493962	D;D;D;D|.	0.90133|.	-2.62;-2.62;-2.62;-2.62|.	5.43|5.43	5.43|5.43	0.79202|0.79202	Pectin lyase fold/virulence factor (2);Carbohydrate-binding/sugar hydrolysis domain (1);F-box domain, Skp2-like (1);Pectin lyase fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.86789|.	0.6017|.	M|M	0.92880|0.92880	3.355|3.355	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.998;1.0|.	D|.	0.89459|.	0.3735|.	10|.	0.66056|.	D|.	0.02|.	-12.1201|-12.1201	19.5994|19.5994	0.95554|0.95554	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	112;688|.	B3KUR1;Q86XK2|.	.;FBX11_HUMAN|.	E|X	604;688;604;112|479	ENSP00000385398:G604E;ENSP00000384823:G688E;ENSP00000323822:G604E;ENSP00000397359:G112E|.	ENSP00000323822:G604E|.	G|W	-|-	2|3	0|0	FBXO11|FBXO11	47894454|47894454	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.776000|7.776000	0.85560|0.85560	2.699000|2.699000	0.92147|0.92147	0.655000|0.655000	0.94253|0.94253	GGA|TGG		0.388	FBXO11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251181.3	NM_012167, NM_018693, NM_025133		T	48040950	C	T	48040950	3	4	764	1	0	0	0	0	1	0	0	0	5729	855	30	2	834	2	FBXO11	2	48040950	Missense_Mutation	SNP	C	TCGA-MH-A561-01A-11D-A26P-10		48040950	195158423	20	45041											
AAK1	22848	hgsc.bcm.edu	37	2	69757189	69757189	+	Silent	SNP	G	G	A			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr2:69757189G>A	ENST00000409085.4	-	8	1198	c.822C>T	c.(820-822)ttC>ttT	p.F274F	AAK1_ENST00000406297.3_Silent_p.F274F|AAK1_ENST00000470281.1_5'Flank|AAK1_ENST00000409068.1_Silent_p.F274F	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	274	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						CAGGAATTGTGAAGTTTCCAT	0.313																																																0													58	54	55					2																	69757189		1830	4085	5915	SO:0001819	synonymous_variant	22848			AB028971	CCDS1893.2	2p13.3	2012-07-10			ENSG00000115977	ENSG00000115977			19679	protein-coding gene	gene with protein product						11877461, 12471243	Standard	NM_014911		Approved	KIAA1048, DKFZp686K16132	uc002sfp.2	Q2M2I8	OTTHUMG00000129648	ENST00000409085.4:c.822C>T	chr2.hg19:g.69757189G>A			Q4ZFZ3|Q53RX6|Q9UPV4	Silent	SNP	ENST00000409085.4	hg19	CCDS1893.2																																																																																				0.313	AAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251847.4	NM_014911		A	69757189	G	A	69757189	2	1	764	1	0	0	0	0	0	0	0	1	16	1281	45	2		2	AAK1	2	69757189	Silent	SNP	G	TCGA-MH-A561-01A-11D-A26P-10	21716239	69757189	173442184	21	45042											
RTKN	6242	hgsc.bcm.edu	37	2	74668862	74668862	+	Silent	SNP	G	G	T			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr2:74668862G>T	ENST00000272430.5	-	1	164	c.82C>A	c.(82-84)Cga>Aga	p.R28R	RTKN_ENST00000484453.1_5'UTR|RTKN_ENST00000305557.5_5'Flank|RTKN_ENST00000233330.6_5'Flank	NM_001015055.1	NP_001015055.1			rhotekin											endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						AGGCTGAGTCGGAAGCGGCCG	0.697																																																0													28	33	31					2																	74668862		2202	4300	6502	SO:0001819	synonymous_variant	6242			AF049227	CCDS1941.1, CCDS33226.1, CCDS42699.1	2p13.1	2013-01-10			ENSG00000114993	ENSG00000114993		"Pleckstrin homology (PH) domain containing"	10466	protein-coding gene	gene with protein product		602288				9073523, 10940294	Standard	XM_005264478		Approved	B5	uc002sle.3	Q9BST9	OTTHUMG00000129955	ENST00000272430.5:c.82C>A	chr2.hg19:g.74668862G>T				Silent	SNP	ENST00000272430.5	hg19	CCDS33226.1																																																																																				0.697	RTKN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328234.1	NM_001015055		T	74668862	G	T	74668862	2	4	764	1	0	0	0	0	0	0	0	1	13728	1124	39	4		4	RTKN	2	74668862	Silent	SNP	G	TCGA-MH-A561-01A-11D-A26P-10	4911673	74668862	168530511	22	45043											
AUP1	165545	hgsc.bcm.edu	37	2	74755401	74755401	+	5'Flank	SNP	G	G	T			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr2:74755401G>T	ENST00000404568.3	-	0	0				DQX1_ENST00000393951.2_5'Flank|AUP1_ENST00000377526.3_Missense_Mutation_p.F215L|HTRA2_ENST00000258080.3_5'Flank|HTRA2_ENST00000352222.3_5'Flank	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1							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						TGAAAGGGACGAAAAGTGACC	0.537																																																0													74	80	78					2																	74755401		2044	4193	6237	SO:0001631	upstream_gene_variant	550			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		chr2.hg19:g.74755401G>T	Exception_encountered		Q6B017|Q8NAM8	Missense_Mutation	SNP	ENST00000404568.3	hg19	CCDS1949.2	.	.	.	.	.	.	.	.	.	.	G	18.80	3.701042	0.68501	.	.	ENSG00000115307	ENST00000377526;ENST00000258081;ENST00000412627	D	0.92495	-3.05	5.1	3.01	0.34805	.	0.000000	0.85682	D	0.000000	D	0.94000	0.8078	M	0.66506	2.035	0.54753	D	0.999982	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.85130	0.984;0.992;0.997	D	0.91236	0.5018	10	0.33940	T	0.23	-15.5435	8.4169	0.32676	0.226:0.0:0.774:0.0	.	272;281;215	E7EU18;Q9Y679;Q9Y679-2	.;AUP1_HUMAN;.	L	215;279;217	ENSP00000366748:F215L	ENSP00000258081:F279L	F	-	3	2	AUP1	74608909	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.450000	0.35134	0.528000	0.28580	0.462000	0.41574	TTC		0.537	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252230.3	NM_133637		T	74755401	G	T	74755401	1	4	764	0	1	0	0	0	0	0	0	0	1220	1049	37	4		4	AUP1	2	74755401	5'Flank	SNP	G	TCGA-MH-A561-01A-11D-A26P-10	86539	74755401	168443972	23	45044											
LRP2	4036	hgsc.bcm.edu	37	2	170136009	170136009	+	Nonsense_Mutation	SNP	T	T	A			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr2:170136009T>A	ENST00000263816.3	-	12	1723	c.1438A>T	c.(1438-1440)Aaa>Taa	p.K480*	LRP2_ENST00000443831.1_Nonsense_Mutation_p.K480*	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	480					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)"	AGATAGATTTTATTATTAACC	0.393																																																0													98	105	103					2																	170136009		2203	4300	6503	SO:0001587	stop_gained	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.1438A>T	chr2.hg19:g.170136009T>A	ENSP00000263816:p.Lys480*		O00711|Q16215	Nonsense_Mutation	SNP	ENST00000263816.3	hg19	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	T	39	7.557577	0.98358	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7574	0.78046	0.0:0.0:0.0:1.0	.	.	.	.	X	480	.	.	K	-	1	0	LRP2	169844255	1.000000	0.71417	0.998000	0.56505	0.410000	0.31052	7.971000	0.88012	2.136000	0.66102	0.528000	0.53228	AAA		0.393	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		A	170136009	T	A	170136009	4	1	764	1	0	0	0	0	0	1	0	0	8958	1763	61	5	12801	5	LRP2	2	170136009	Nonsense_Mutation	SNP	T	TCGA-MH-A561-01A-11D-A26P-10	95380608	170136009	73063364	24	45045											
GAD1	2571	hgsc.bcm.edu	37	2	171700591	171700591	+	Missense_Mutation	SNP	G	G	T			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr2:171700591G>T	ENST00000358196.3	+	7	1225	c.675G>T	c.(673-675)atG>atT	p.M225I	GAD1_ENST00000429023.1_3'UTR	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	225					gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate catabolic process (GO:0006538)|glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|protein-pyridoxal-5-phosphate linkage (GO:0018352)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						TTGTCCTCATGGAACAAATAA	0.368																																																0													210	215	213					2																	171700591		2203	4300	6503	SO:0001583	missense	2571				CCDS2239.1, CCDS2240.1	2q31	2008-02-05	2002-08-29		ENSG00000128683	ENSG00000128683	4.1.1.15		4092	protein-coding gene	gene with protein product		605363	"glutamate decarboxylase 1 (brain, 67kD)"	GAD		1549570	Standard	XM_005246443		Approved		uc002ugi.3	Q99259	OTTHUMG00000044175	ENST00000358196.3:c.675G>T	chr2.hg19:g.171700591G>T	ENSP00000350928:p.Met225Ile		Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Missense_Mutation	SNP	ENST00000358196.3	hg19	CCDS2239.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.500461	0.85176	.	.	ENSG00000128683	ENST00000358196	T	0.36520	1.25	6.17	6.17	0.99709	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.37865	0.1019	L	0.33624	1.015	0.80722	D	1	B	0.30021	0.265	B	0.35312	0.2	T	0.15350	-1.0440	10	0.72032	D	0.01	-26.7667	20.8794	0.99867	0.0:0.0:1.0:0.0	.	225	Q99259	DCE1_HUMAN	I	225	ENSP00000350928:M225I	ENSP00000350928:M225I	M	+	3	0	GAD1	171408837	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.394000	0.97261	2.941000	0.99782	0.655000	0.94253	ATG		0.368	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102664.2			T	171700591	G	T	171700591	3	4	764	1	0	0	0	0	1	0	0	0	6181	1348	47	4	738	4	GAD1	2	171700591	Missense_Mutation	SNP	G	TCGA-MH-A561-01A-11D-A26P-10	1564582	171700591	71498782	25	45046											
MSTN	2660	hgsc.bcm.edu	37	2	190927181	190927181	+	Missense_Mutation	SNP	T	T	C			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr2:190927181T>C	ENST00000260950.4	-	1	274	c.142A>G	c.(142-144)Act>Gct	p.T48A	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	48					cellular response to dexamethasone stimulus (GO:0071549)|muscle organ development (GO:0007517)|negative regulation of muscle hypertrophy (GO:0014741)|negative regulation of skeletal muscle tissue growth (GO:0048632)|ovulation cycle process (GO:0022602)|positive regulation of transcription, DNA-templated (GO:0045893)|response to electrical stimulus (GO:0051602)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gravity (GO:0009629)|response to heat (GO:0009408)|response to muscle activity (GO:0014850)|response to testosterone (GO:0033574)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue regeneration (GO:0043403)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			GAAGATTTAGTGTTTTGTCTC	0.378																																																0													198	194	195					2																	190927181		2203	4300	6503	SO:0001583	missense	2660			AF019627	CCDS2303.1	2q32.1	2014-09-17	2007-06-21	2007-06-21	ENSG00000138379	ENSG00000138379			4223	protein-coding gene	gene with protein product		601788	"growth differentiation factor 8"	GDF8		9288100, 10610713, 17003236	Standard	NM_005259		Approved		uc002urp.3	O14793	OTTHUMG00000132663	ENST00000260950.4:c.142A>G	chr2.hg19:g.190927181T>C	ENSP00000260950:p.Thr48Ala		A1C2J7|A1C2K0|Q6B0H2	Missense_Mutation	SNP	ENST00000260950.4	hg19	CCDS2303.1	.	.	.	.	.	.	.	.	.	.	T	13.67	2.307916	0.40895	.	.	ENSG00000138379	ENST00000260950	T	0.64085	-0.08	5.64	5.64	0.86602	Transforming growth factor-beta, N-terminal (1);	0.217803	0.48286	D	0.000186	T	0.51753	0.1693	L	0.29908	0.895	0.43195	D	0.995031	B	0.09022	0.002	B	0.15870	0.014	T	0.43877	-0.9364	10	0.30854	T	0.27	-11.9215	16.0238	0.80522	0.0:0.0:0.0:1.0	.	48	O14793	GDF8_HUMAN	A	48	ENSP00000260950:T48A	ENSP00000260950:T48A	T	-	1	0	MSTN	190635426	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.928000	0.70088	2.367000	0.80283	0.528000	0.53228	ACT		0.378	MSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255917.2	NM_005259		C	190927181	T	C	190927181	3	2	764	1	0	0	0	0	1	0	0	0	9895	1696	59	3	997	3	MSTN	2	190927181	Missense_Mutation	SNP	T	TCGA-MH-A561-01A-11D-A26P-10	19226590	190927181	52272192	26	45047											
C2orf69	205327	hgsc.bcm.edu	37	2	200789854	200789854	+	Missense_Mutation	SNP	G	G	T			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr2:200789854G>T	ENST00000319974.5	+	2	586	c.403G>T	c.(403-405)Gct>Tct	p.A135S	C2orf69_ENST00000491721.1_Intron	NM_153689.5	NP_710156.3	Q8N8R5	CB069_HUMAN	chromosome 2 open reading frame 69	135						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)|stomach(1)|urinary_tract(1)	11						AGAAAATGTTGCTACCATTTT	0.353																																																0													51	48	48					2																	200789854		1819	4077	5896	SO:0001583	missense	205327				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.403G>T	chr2.hg19:g.200789854G>T	ENSP00000312770:p.Ala135Ser		Q8NE30	Missense_Mutation	SNP	ENST00000319974.5	hg19	CCDS46482.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.667963	0.88348	.	.	ENSG00000178074	ENST00000319974	.	.	.	6.03	6.03	0.97812	.	0.049006	0.85682	D	0.000000	D	0.82600	0.5072	M	0.76328	2.33	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.82600	-0.0377	9	0.62326	D	0.03	-10.3396	19.5548	0.95338	0.0:0.0:1.0:0.0	.	135	Q8N8R5	CB069_HUMAN	S	135	.	ENSP00000312770:A135S	A	+	1	0	C2orf69	200498099	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.827000	0.99397	2.854000	0.98071	0.655000	0.94253	GCT		0.353	C2orf69-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335446.1	NM_153689		T	200789854	G	T	200789854	3	4	764	1	0	0	0	0	1	0	0	0	2190	1319	46	4	409	4	C2orf69	2	200789854	Missense_Mutation	SNP	G	TCGA-MH-A561-01A-11D-A26P-10	9862673	200789854	42409519	27	45048											
DGKD	8527	hgsc.bcm.edu	37	2	234368926	234368926	+	Missense_Mutation	SNP	G	G	T			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr2:234368926G>T	ENST00000264057.2	+	24	2928	c.2916G>T	c.(2914-2916)atG>atT	p.M972I	DGKD_ENST00000409813.3_Missense_Mutation_p.M928I	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	972					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)	ACCCGGAGATGCTGTCCGAGG	0.617																																																0													87	79	81					2																	234368926		2203	4300	6503	SO:0001583	missense	8527			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.2916G>T	chr2.hg19:g.234368926G>T	ENSP00000264057:p.Met972Ile		Q14158|Q6PK55|Q8NG53	Missense_Mutation	SNP	ENST00000264057.2	hg19	CCDS2504.1	.	.	.	.	.	.	.	.	.	.	G	7.872	0.728341	0.15507	.	.	ENSG00000077044	ENST00000264057;ENST00000409813	T;T	0.78364	-0.99;-1.17	4.93	3.12	0.35913	.	0.425083	0.24007	N	0.042416	T	0.41419	0.1158	N	0.00652	-1.29	0.20403	N	0.999909	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.33214	-0.9877	10	0.21014	T	0.42	.	4.9917	0.14218	0.132:0.4809:0.3087:0.0784	.	928;972	Q16760-2;Q16760	.;DGKD_HUMAN	I	972;928	ENSP00000264057:M972I;ENSP00000386455:M928I	ENSP00000264057:M972I	M	+	3	0	DGKD	234033665	1.000000	0.71417	0.994000	0.49952	0.551000	0.35334	1.017000	0.29989	0.790000	0.33803	0.563000	0.77884	ATG		0.617	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257072.2	NM_003648		T	234368926	G	T	234368926	3	4	764	1	0	0	0	0	1	0	0	0	4469	1319	46	4	3034	4	DGKD	2	234368926	Missense_Mutation	SNP	G	TCGA-MH-A561-01A-11D-A26P-10	33579072	234368926	8830447	28	45049											
SATB1	6304	hgsc.bcm.edu	37	3	18390936	18390936	+	Missense_Mutation	SNP	T	T	C			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr3:18390936T>C	ENST00000338745.6	-	11	3752	c.2018A>G	c.(2017-2019)gAg>gGg	p.E673G	SATB1_ENST00000417717.2_Missense_Mutation_p.E705G|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000454909.2_Missense_Mutation_p.E673G	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	673					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						CTGGATGGCCTCTTCGTCAGG	0.517																																																0													141	140	140					3																	18390936		2203	4300	6503	SO:0001583	missense	6304				CCDS2631.1, CCDS56242.1	3p24.3	2011-07-19	2007-02-15		ENSG00000182568	ENSG00000182568		"Homeoboxes / CUT class"	10541	protein-coding gene	gene with protein product		602075	"special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)"			1505028	Standard	NM_002971		Approved		uc003cbj.3	Q01826	OTTHUMG00000129890	ENST00000338745.6:c.2018A>G	chr3.hg19:g.18390936T>C	ENSP00000341024:p.Glu673Gly		B3KXF1|C9JTR6|Q59EQ0	Missense_Mutation	SNP	ENST00000338745.6	hg19	CCDS2631.1	.	.	.	.	.	.	.	.	.	.	T	17.36	3.370587	0.61624	.	.	ENSG00000182568	ENST00000338745;ENST00000454909;ENST00000417717	D;D;D	0.96745	-4.11;-4.11;-4.11	5.27	5.27	0.74061	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.049242	0.85682	N	0.000000	D	0.96642	0.8904	L	0.32530	0.975	0.80722	D	1	B;D	0.89917	0.013;1.0	B;D	0.97110	0.004;1.0	D	0.97662	1.0161	10	0.87932	D	0	-15.8047	15.186	0.73002	0.0:0.0:0.0:1.0	.	705;673	Q01826-2;Q01826	.;SATB1_HUMAN	G	673;673;705	ENSP00000341024:E673G;ENSP00000399708:E673G;ENSP00000399518:E705G	ENSP00000341024:E673G	E	-	2	0	SATB1	18365940	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.911000	0.87458	1.993000	0.58246	0.460000	0.39030	GAG		0.517	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252138.4	NM_001131010		C	18390936	T	C	18390936	3	2	764	1	0	0	0	0	1	0	0	0	13859	1551	54	3	277	3	SATB1	3	18390936	Missense_Mutation	SNP	T	TCGA-MH-A561-01A-11D-A26P-10		18390936	179631494	29	45050											
EPM2AIP1	9852	hgsc.bcm.edu	37	3	37033483	37033483	+	Missense_Mutation	SNP	C	C	A			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr3:37033483C>A	ENST00000322716.5	-	1	1312	c.1086G>T	c.(1084-1086)ttG>ttT	p.L362F	MLH1_ENST00000536378.1_5'Flank|MLH1_ENST00000458205.2_5'Flank|MLH1_ENST00000435176.1_5'Flank|MLH1_ENST00000539477.1_5'Flank|MLH1_ENST00000455445.2_5'Flank|MLH1_ENST00000231790.2_5'Flank	NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	362					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						CTACTGAAACCAAGAACGCTT	0.413																																																0													190	192	191					3																	37033483		1871	4110	5981	SO:0001583	missense	9852			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.1086G>T	chr3.hg19:g.37033483C>A	ENSP00000406027:p.Leu362Phe		O94866|Q9H3L3	Missense_Mutation	SNP	ENST00000322716.5	hg19	CCDS46790.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.275856	0.59649	.	.	ENSG00000178567	ENST00000322716	T	0.31247	1.5	4.71	4.71	0.59529	.	.	.	.	.	T	0.41834	0.1176	L	0.27053	0.805	0.47698	D	0.999499	D	0.76494	0.999	D	0.74674	0.984	T	0.29549	-1.0008	9	0.49607	T	0.09	-10.3057	15.1824	0.72968	0.0:1.0:0.0:0.0	.	362	Q7L775	EPMIP_HUMAN	F	362	ENSP00000406027:L362F	ENSP00000406027:L362F	L	-	3	2	EPM2AIP1	37008487	1.000000	0.71417	1.000000	0.80357	0.797000	0.45037	2.648000	0.46647	2.424000	0.82194	0.591000	0.81541	TTG		0.413	EPM2AIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000470593.1	NM_014805		A	37033483	C	A	37033483	3	1	764	1	0	0	0	0	1	0	0	0	5186	593	21	4	741	4	EPM2AIP1	3	37033483	Missense_Mutation	SNP	C	TCGA-MH-A561-01A-11D-A26P-10	18642547	37033483	160988947	30	45051											
SCN10A	6336	hgsc.bcm.edu	37	3	38740016	38740018	+	In_Frame_Del	DEL	ACT	ACT	-	rs200063383	byFrequency	TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	ACT	ACT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr3:38740016_38740018delACT	ENST00000449082.2	-	27	4692_4694	c.4693_4695delAGT	c.(4693-4695)agtdel	p.S1565del		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1565					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)	GGGAGAAGTAACTTTGAAGTGAC	0.478																																																0																																										SO:0001651	inframe_deletion	6336			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.4693_4695delAGT	chr3.hg19:g.38740016_38740018delACT	ENSP00000390600:p.Ser1565del		A6NDQ1	In_Frame_Del	DEL	ENST00000449082.2	hg19	CCDS33736.1																																																																																				0.478	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		-	38740018	ACT	-	38740016	7	5	764	1	0	1	0	1	0	0	0	0	13918	40	2	0	1179	0	SCN10A	3	38740016	In_Frame_Del	DEL	ACT	TCGA-MH-A561-01A-11D-A26P-10	1706533	38740016	159282414	31	45052	482	2									
SCN10A	6336	hgsc.bcm.edu	37	3	38740022	38740022	+	Frame_Shift_Del	DEL	A	A	-			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr3:38740022delA	ENST00000449082.2	-	27	4688	c.4689delT	c.(4687-4689)cttfs	p.L1563fs		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1563					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)	AGTAACTTTGAAGTGACTTAA	0.478																																																0													58	59	59					3																	38740022		2203	4300	6503	SO:0001589	frameshift_variant	6336			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.4689delT	chr3.hg19:g.38740022delA	ENSP00000390600:p.Leu1563fs		A6NDQ1	Frame_Shift_Del	DEL	ENST00000449082.2	hg19	CCDS33736.1																																																																																				0.478	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		-	38740022	A	-	38740022	7	5	764	1	0	1	0	1	0	0	0	0	13918	233	9	0	1185	0	SCN10A	3	38740022	Frame_Shift_Del	DEL	A	TCGA-MH-A561-01A-11D-A26P-10	6	38740022	159282408	32	45053	482	2									
LIMD1	8994	hgsc.bcm.edu	37	3	45637412	45637412	+	Missense_Mutation	SNP	T	T	G			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr3:45637412T>G	ENST00000273317.4	+	1	1062	c.1041T>G	c.(1039-1041)agT>agG	p.S347R	LIMD1_ENST00000465039.1_Intron|LIMD1_ENST00000440097.1_Missense_Mutation_p.S347R	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	347					cell migration (GO:0016477)|cytoplasmic mRNA processing body assembly (GO:0033962)|cytoskeleton organization (GO:0007010)|gene silencing by miRNA (GO:0035195)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of hippo signaling (GO:0035331)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|phosphorylation (GO:0016310)|positive regulation of gene silencing by miRNA (GO:2000637)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|RISC complex (GO:0016442)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		ACCTTTCCAGTTCTGCCCCGT	0.622																																																0													78	78	78					3																	45637412		2203	4300	6503	SO:0001583	missense	8994			AJ132408	CCDS2729.1	3p21.31	2008-02-01			ENSG00000144791	ENSG00000144791			6612	protein-coding gene	gene with protein product		604543				10647888	Standard	NM_014240		Approved		uc003coq.3	Q9UGP4	OTTHUMG00000133453	ENST00000273317.4:c.1041T>G	chr3.hg19:g.45637412T>G	ENSP00000273317:p.Ser347Arg		Q17RQ1|Q9BQQ9|Q9NQ47	Missense_Mutation	SNP	ENST00000273317.4	hg19	CCDS2729.1	.	.	.	.	.	.	.	.	.	.	T	9.543	1.113931	0.20795	.	.	ENSG00000144791	ENST00000440097;ENST00000273317	T;T	0.58506	0.33;0.53	4.73	1.1	0.20463	.	1.824180	0.02460	N	0.086523	T	0.44953	0.1318	L	0.29908	0.895	0.09310	N	1	B	0.15141	0.012	B	0.09377	0.004	T	0.14420	-1.0473	10	0.22706	T	0.39	.	6.3277	0.21253	0.0:0.4757:0.0:0.5243	.	347	Q9UGP4	LIMD1_HUMAN	R	347	ENSP00000394537:S347R;ENSP00000273317:S347R	ENSP00000273317:S347R	S	+	3	2	LIMD1	45612416	0.001000	0.12720	0.006000	0.13384	0.180000	0.23129	-0.032000	0.12266	0.203000	0.20529	0.533000	0.62120	AGT		0.622	LIMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257327.1	NM_014240		G	45637412	T	G	45637412	3	3	764	1	0	0	0	0	1	0	0	0	8800	1722	60	5	1043	5	LIMD1	3	45637412	Missense_Mutation	SNP	T	TCGA-MH-A561-01A-11D-A26P-10	6897390	45637412	152385018	33	45054											
DNAH1	25981	hgsc.bcm.edu	37	3	52416419	52416419	+	Missense_Mutation	SNP	T	T	C			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr3:52416419T>C	ENST00000420323.2	+	50	8150	c.7889T>C	c.(7888-7890)cTc>cCc	p.L2630P		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2630	AAA 4. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AAGGTCCTGCTCAAGGCGGGC	0.582																																																0													169	177	175					3																	52416419		2125	4239	6364	SO:0001583	missense	25981			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.7889T>C	chr3.hg19:g.52416419T>C	ENSP00000401514:p.Leu2630Pro		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	hg19	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	T	18.02	3.529987	0.64860	.	.	ENSG00000114841	ENST00000420323	T	0.54279	0.58	4.49	4.49	0.54785	.	0.155058	0.30126	N	0.010343	T	0.76898	0.4052	M	0.93507	3.425	0.80722	D	1	D	0.61697	0.99	D	0.67725	0.953	T	0.80817	-0.1213	10	0.35671	T	0.21	.	13.9669	0.64213	0.0:0.0:0.0:1.0	.	2630	C9JXH6	.	P	2630	ENSP00000401514:L2630P	ENSP00000401514:L2630P	L	+	2	0	DNAH1	52391459	1.000000	0.71417	1.000000	0.80357	0.723000	0.41478	5.444000	0.66587	1.883000	0.54544	0.379000	0.24179	CTC		0.582	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		C	52416419	T	C	52416419	3	2	764	1	0	0	0	0	1	0	0	0	4599	1551	54	3	8083	3	DNAH1	3	52416419	Missense_Mutation	SNP	T	TCGA-MH-A561-01A-11D-A26P-10	6779007	52416419	145606011	34	45055											
IGSF10	285313	hgsc.bcm.edu	37	3	151166796	151166796	+	Missense_Mutation	SNP	C	C	T			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr3:151166796C>T	ENST00000282466.3	-	4	972	c.973G>A	c.(973-975)Gga>Aga	p.G325R		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	325					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)			GCTTCATTTCCAGACTGATCT	0.433																																																0													108	109	109					3																	151166796		2203	4300	6503	SO:0001583	missense	285313			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"Immunoglobulin superfamily / I-set domain containing"	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.973G>A	chr3.hg19:g.151166796C>T	ENSP00000282466:p.Gly325Arg		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	hg19	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.243180	0.39697	.	.	ENSG00000152580	ENST00000282466	T	0.75260	-0.92	5.37	4.5	0.54988	.	0.000000	0.47093	D	0.000256	T	0.67915	0.2944	M	0.64997	1.995	0.38362	D	0.944634	B	0.34200	0.441	B	0.26094	0.066	T	0.72513	-0.4270	10	0.87932	D	0	.	10.7221	0.46046	0.0:0.7971:0.1309:0.072	.	325	Q6WRI0	IGS10_HUMAN	R	325	ENSP00000282466:G325R	ENSP00000282466:G325R	G	-	1	0	IGSF10	152649486	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.805000	0.38883	1.270000	0.44297	0.650000	0.86243	GGA		0.433	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		T	151166796	C	T	151166796	3	4	764	1	0	0	0	0	1	0	0	0	7599	603	21	2	6958	2	IGSF10	3	151166796	Missense_Mutation	SNP	C	TCGA-MH-A561-01A-11D-A26P-10	98750377	151166796	46855634	35	45056											
BOD1L	259282	hgsc.bcm.edu	37	4	13601745	13601745	+	Missense_Mutation	SNP	G	G	A			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr4:13601745G>A	ENST00000040738.5	-	10	6914	c.6779C>T	c.(6778-6780)tCg>tTg	p.S2260L		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2260						nucleus (GO:0005634)	DNA binding (GO:0003677)										GTCTTCCACCGAGCTCGTAGA	0.542																																																0													79	69	72					4																	13601745		2203	4300	6503	SO:0001583	missense	259282			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.6779C>T	chr4.hg19:g.13601745G>A	ENSP00000040738:p.Ser2260Leu		Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	hg19	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	G	21.7	4.194306	0.78902	.	.	ENSG00000038219	ENST00000040738	T	0.12255	2.7	5.46	5.46	0.80206	.	0.000000	0.45126	D	0.000387	T	0.23727	0.0574	M	0.64997	1.995	0.30881	N	0.731467	D	0.63046	0.992	P	0.51055	0.657	T	0.15350	-1.0440	10	0.72032	D	0.01	-3.6924	11.8817	0.52579	0.0832:0.0:0.9168:0.0	.	2260	Q8NFC6	BOD1L_HUMAN	L	2260	ENSP00000040738:S2260L	ENSP00000040738:S2260L	S	-	2	0	BOD1L	13210843	0.993000	0.37304	0.944000	0.38274	0.889000	0.51656	2.414000	0.44627	2.573000	0.86826	0.650000	0.86243	TCG		0.542	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		A	13601745	G	A	13601745	3	1	764	1	0	0	0	0	1	0	0	0	1483	1059	37	1	2444	1	BOD1L	4	13601745	Missense_Mutation	SNP	G	TCGA-MH-A561-01A-11D-A26P-10		13601745	177552531	36	45057											
RUFY3	22902	hgsc.bcm.edu	37	4	71588406	71588406	+	Missense_Mutation	SNP	G	G	T			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr4:71588406G>T	ENST00000226328.4	+	1	679	c.116G>T	c.(115-117)tGg>tTg	p.W39L	RUFY3_ENST00000417478.2_Intron|RUFY3_ENST00000381006.3_Missense_Mutation_p.W39L|RUFY3_ENST00000536664.1_Missense_Mutation_p.W5L	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	39					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)			GATGGAGAATGGCTCTGCCTG	0.532																																																0													204	166	179					4																	71588406		2203	4300	6503	SO:0001583	missense	22902			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	ENST00000226328.4:c.116G>T	chr4.hg19:g.71588406G>T	ENSP00000226328:p.Trp39Leu		B3KM25|B4DYW7|D9N163|O94948|Q9UI00	Missense_Mutation	SNP	ENST00000226328.4	hg19	CCDS3547.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.797286	0.70567	.	.	ENSG00000018189	ENST00000381006;ENST00000226328;ENST00000536664	T;T;T	0.35973	1.81;1.28;2.13	5.51	5.51	0.81932	.	0.200815	0.47852	D	0.000210	T	0.57227	0.2039	L	0.52011	1.625	0.58432	D	0.999999	B;D;D	0.67145	0.001;0.996;0.967	B;D;P	0.78314	0.002;0.991;0.901	T	0.58301	-0.7660	10	0.87932	D	0	0.0099	19.4131	0.94683	0.0:0.0:1.0:0.0	.	5;39;39	B4DKC2;Q7L099-3;Q7L099	.;.;RUFY3_HUMAN	L	39;39;5	ENSP00000370394:W39L;ENSP00000226328:W39L;ENSP00000443652:W5L	ENSP00000226328:W39L	W	+	2	0	RUFY3	71807270	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.476000	0.97823	2.590000	0.87494	0.555000	0.69702	TGG		0.532	RUFY3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252161.2	NM_014961		T	71588406	G	T	71588406	3	4	764	1	0	0	0	0	1	0	0	0	13746	1357	47	4	480	4	RUFY3	4	71588406	Missense_Mutation	SNP	G	TCGA-MH-A561-01A-11D-A26P-10	57986661	71588406	119565870	37	45058											
FBXW7	55294	hgsc.bcm.edu	37	4	153250883	153250883	+	Frame_Shift_Del	DEL	G	G	-			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr4:153250883delG	ENST00000281708.4	-	8	2406	c.1177delC	c.(1177-1179)cgafs	p.R393fs	FBXW7_ENST00000393956.3_Frame_Shift_Del_p.R217fs|FBXW7_ENST00000603548.1_Frame_Shift_Del_p.R393fs|FBXW7_ENST00000263981.5_Frame_Shift_Del_p.R313fs|FBXW7_ENST00000296555.5_Frame_Shift_Del_p.R275fs|FBXW7_ENST00000603841.1_Frame_Shift_Del_p.R393fs	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	393					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.R393*(7)|p.R313*(1)|p.R154*(1)|p.?(1)|p.R275*(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)				CTAACTATTCGGTTACCACAA	0.343			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																		Rec	yes		4	4q31.3	55294	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"		"E, L"	11	Substitution - Nonsense(10)|Unknown(1)	endometrium(5)|large_intestine(4)|haematopoietic_and_lymphoid_tissue(1)|stomach(1)											118	107	111					4																	153250883		2203	4300	6503	SO:0001589	frameshift_variant	55294			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"F-boxes / WD-40 domains", "WD repeat domain containing"	16712	protein-coding gene	gene with protein product	"archipelago homolog (Drosophila)"	606278	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)", "F-box and WD repeat domain containing 7"			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1177delC	chr4.hg19:g.153250883delG	ENSP00000281708:p.Arg393fs		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Frame_Shift_Del	DEL	ENST00000281708.4	hg19	CCDS3777.1																																																																																				0.343	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			-	153250883	G	-	153250883	7	5	764	1	0	1	0	1	0	0	0	0	5771	1124	39	0	966	0	FBXW7	4	153250883	Frame_Shift_Del	DEL	G	TCGA-MH-A561-01A-11D-A26P-10	81662477	153250883	37903393	38	45059											
TAF7	6879	hgsc.bcm.edu	37	5	140699374	140699374	+	Missense_Mutation	SNP	T	T	C			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr5:140699374T>C	ENST00000313368.5	-	1	956	c.238A>G	c.(238-240)Att>Gtt	p.I80V		NM_005642.2	NP_005633.2	Q15545	TAF7_HUMAN	TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa	80					DNA-templated transcription, initiation (GO:0006352)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of histone acetylation (GO:0035067)|negative regulation of protein kinase activity (GO:0006469)|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)|spermine transport (GO:0000296)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	histone acetyltransferase binding (GO:0035035)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|vitamin D receptor binding (GO:0042809)			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTTATCAATGGTTTTCAAG	0.443																																																0													120	113	116					5																	140699374		2203	4300	6503	SO:0001583	missense	6879			AF349038	CCDS4259.1	5q31	2008-02-05	2002-08-29	2001-12-07	ENSG00000178913	ENSG00000178913			11541	protein-coding gene	gene with protein product		600573	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, F, 55kD"	TAF2F		7824954	Standard	NM_005642		Approved	TAFII55	uc003ljg.3	Q15545	OTTHUMG00000129628	ENST00000313368.5:c.238A>G	chr5.hg19:g.140699374T>C	ENSP00000312709:p.Ile80Val		B2RBV9|Q13036	Missense_Mutation	SNP	ENST00000313368.5	hg19	CCDS4259.1	.	.	.	.	.	.	.	.	.	.	T	10.28	1.307342	0.23821	.	.	ENSG00000178913	ENST00000313368	T	0.23348	1.91	5.08	3.93	0.45458	TAFII55 protein, conserved region (1);	0.259807	0.37809	N	0.001931	T	0.13586	0.0329	N	0.17312	0.475	0.41194	D	0.986322	B	0.09022	0.002	B	0.12837	0.008	T	0.10567	-1.0624	10	0.19590	T	0.45	-6.4089	7.5444	0.27757	0.0:0.0947:0.0:0.9053	.	80	Q15545	TAF7_HUMAN	V	80	ENSP00000312709:I80V	ENSP00000312709:I80V	I	-	1	0	TAF7	140679558	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.373000	0.59537	1.092000	0.41356	0.533000	0.62120	ATT		0.443	TAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251823.2	NM_005642		C	140699374	T	C	140699374	3	2	764	1	0	0	0	0	1	0	0	0	15537	1464	51	3	815	3	TAF7	5	140699374	Missense_Mutation	SNP	T	TCGA-MH-A561-01A-11D-A26P-10		140699374	40215886	39	45060											
TFAP2A	7020	hgsc.bcm.edu	37	6	10398689	10398689	+	Missense_Mutation	SNP	G	G	C			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr6:10398689G>C	ENST00000482890.1	-	8	1627	c.1275C>G	c.(1273-1275)aaC>aaG	p.N425K	TFAP2A_ENST00000497266.1_5'Flank|TFAP2A_ENST00000379608.3_Missense_Mutation_p.N419K|TFAP2A_ENST00000319516.4_Missense_Mutation_p.N421K|TFAP2A_ENST00000379613.3_Missense_Mutation_p.N427K|TFAP2A_ENST00000379604.2_Missense_Mutation_p.N425K			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	425					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)				TGCTTTTGGCGTTGTTGTCCG	0.637																																																0													303	314	310					6																	10398689		2203	4300	6503	SO:0001583	missense	7020			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.1275C>G	chr6.hg19:g.10398689G>C	ENSP00000418541:p.Asn425Lys		Q13777|Q5TAV5|Q8N1C6	Missense_Mutation	SNP	ENST00000482890.1	hg19	CCDS4510.1	.	.	.	.	.	.	.	.	.	.	G	5.052	0.195211	0.09599	.	.	ENSG00000137203	ENST00000379613;ENST00000379604;ENST00000319516;ENST00000379608;ENST00000482890	D;D;D;D;D	0.96913	-4.17;-4.17;-4.17;-4.17;-4.17	5.41	5.41	0.78517	.	0.166295	0.64402	D	0.000003	T	0.82139	0.4972	N	0.02539	-0.55	0.34515	D	0.707504	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.74665	-0.3589	10	0.08381	T	0.77	-4.3896	19.197	0.93693	0.0:0.0:1.0:0.0	.	421;425;419	Q5TAV5;P05549;Q8N1C6	.;AP2A_HUMAN;.	K	427;425;421;419;425	ENSP00000368933:N427K;ENSP00000368924:N425K;ENSP00000316516:N421K;ENSP00000368928:N419K;ENSP00000418541:N425K	ENSP00000316516:N421K	N	-	3	2	TFAP2A	10506675	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.556000	0.53734	2.532000	0.85374	0.655000	0.94253	AAC		0.637	TFAP2A-007	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353619.2	NM_003220		C	10398689	G	C	10398689	3	2	764	1	0	0	0	0	1	0	0	0	15792	1136	40	4	42	4	TFAP2A	6	10398689	Missense_Mutation	SNP	G	TCGA-MH-A561-01A-11D-A26P-10		10398689	160716378	40	45061											
KIF13A	63971	hgsc.bcm.edu	37	6	17817447	17817447	+	Missense_Mutation	SNP	C	C	T			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr6:17817447C>T	ENST00000259711.6	-	17	1909	c.1804G>A	c.(1804-1806)Gtt>Att	p.V602I	KIF13A_ENST00000378826.2_Missense_Mutation_p.V602I|KIF13A_ENST00000378816.5_Missense_Mutation_p.V602I|KIF13A_ENST00000378843.2_Missense_Mutation_p.V602I|KIF13A_ENST00000378814.5_Missense_Mutation_p.V602I|KIF13A_ENST00000503342.1_5'Flank	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	602					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)			AGGACCTGAACCACATTTTGA	0.532																																																0													74	79	78					6																	17817447		2040	4210	6250	SO:0001583	missense	63971			AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"Kinesins"	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.1804G>A	chr6.hg19:g.17817447C>T	ENSP00000259711:p.Val602Ile		A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	ENST00000259711.6	hg19	CCDS47381.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.074673	0.76415	.	.	ENSG00000137177	ENST00000378814;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	T;T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58;-0.58	5.92	5.92	0.95590	.	0.060329	0.64402	D	0.000003	T	0.43787	0.1263	L	0.27053	0.805	0.58432	D	0.99999	B;B;P;B;P	0.37731	0.112;0.094;0.48;0.112;0.607	B;B;B;B;B	0.34722	0.034;0.108;0.188;0.034;0.187	T	0.52064	-0.8625	10	0.08599	T	0.76	.	20.3248	0.98698	0.0:1.0:0.0:0.0	.	573;602;602;602;602	E7ER65;Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.;.;.;KI13A_HUMAN;.	I	602	ENSP00000368091:V602I;ENSP00000259711:V602I;ENSP00000368103:V602I;ENSP00000368120:V602I;ENSP00000368093:V602I	ENSP00000259711:V602I	V	-	1	0	KIF13A	17925426	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.432000	0.80349	2.818000	0.97014	0.655000	0.94253	GTT		0.532	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			T	17817447	C	T	17817447	3	4	764	1	0	0	0	0	1	0	0	0	8276	507	18	2	3730	2	KIF13A	6	17817447	Missense_Mutation	SNP	C	TCGA-MH-A561-01A-11D-A26P-10	7418758	17817447	153297620	41	45062											
UHRF1BP1	54887	hgsc.bcm.edu	37	6	34825520	34825520	+	Silent	SNP	C	C	T			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr6:34825520C>T	ENST00000192788.5	+	13	1764	c.1593C>T	c.(1591-1593)taC>taT	p.Y531Y	UHRF1BP1_ENST00000452449.2_Silent_p.Y531Y	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	531							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						CTAATCTCTACATTCAGTTAA	0.398																																																0													158	148	151					6																	34825520		1859	4088	5947	SO:0001819	synonymous_variant	54887			AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 107"	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.1593C>T	chr6.hg19:g.34825520C>T			Q9NXE0	Silent	SNP	ENST00000192788.5	hg19	CCDS43455.1																																																																																				0.398	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		T	34825520	C	T	34825520	2	4	764	1	0	0	0	0	0	0	0	1	16973	489	17	2		2	UHRF1BP1	6	34825520	Silent	SNP	C	TCGA-MH-A561-01A-11D-A26P-10	17008073	34825520	136289547	42	45063											
COL12A1	1303	hgsc.bcm.edu	37	6	75861881	75861881	+	Silent	SNP	T	T	C			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr6:75861881T>C	ENST00000322507.8	-	19	4110	c.3801A>G	c.(3799-3801)gcA>gcG	p.A1267A	COL12A1_ENST00000483888.2_Silent_p.A1267A|COL12A1_ENST00000416123.2_Silent_p.A1267A|COL12A1_ENST00000345356.6_Silent_p.A103A	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1267	VWFA 3. {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						ACGGCAAGTTTGCCACAGCTT	0.473																																																0													102	99	100					6																	75861881		1976	4162	6138	SO:0001819	synonymous_variant	1303			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens", "Fibronectin type III domain containing"	2188	protein-coding gene	gene with protein product	"collagen type XII proteoglycan"	120320	"collagen, type XII, alpha 1-like"	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.3801A>G	chr6.hg19:g.75861881T>C			O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Silent	SNP	ENST00000322507.8	hg19	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	T	4.645	0.119852	0.08881	.	.	ENSG00000111799	ENST00000419671	.	.	.	5.94	-10.2	0.00374	.	.	.	.	.	T	0.24851	0.0603	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48570	-0.9024	4	.	.	.	.	5.2576	0.15555	0.078:0.3395:0.3536:0.2289	.	.	.	.	E	9	.	.	K	-	1	0	COL12A1	75918601	0.080000	0.21391	0.440000	0.26846	0.478000	0.33099	-0.719000	0.04974	-1.241000	0.02526	-1.293000	0.01348	AAA		0.473	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		C	75861881	T	C	75861881	2	2	764	1	0	0	0	0	0	0	0	1	3671	1799	63	3		3	COL12A1	6	75861881	Silent	SNP	T	TCGA-MH-A561-01A-11D-A26P-10	41036361	75861881	95253186	43	45064											
TMEM30A	55754	hgsc.bcm.edu	37	6	75977367	75977367	+	Missense_Mutation	SNP	T	T	A			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr6:75977367T>A	ENST00000230461.6	-	2	664	c.335A>T	c.(334-336)aAg>aTg	p.K112M	TMEM30A_ENST00000475111.2_Intron|TMEM30A_ENST00000370050.5_De_novo_Start_InFrame	NM_018247.3	NP_060717.1	Q9NV96	CC50A_HUMAN	transmembrane protein 30A	112					drug transmembrane transport (GO:0006855)|phospholipid translocation (GO:0045332)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endosome (GO:0036010)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|haematopoietic_and_lymphoid_tissue(8)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CTCAAATGACTTTTCCAGTGT	0.363																																																0													130	135	133					6																	75977367		2203	4300	6503	SO:0001583	missense	55754			AK001718	CCDS4983.1, CCDS47453.1	6q14.1	2014-01-28	2004-06-17	2004-06-18	ENSG00000112697	ENSG00000112697			16667	protein-coding gene	gene with protein product		611028	"chromosome 6 open reading frame 67"	C6orf67		15375526	Standard	NM_001143958		Approved	FLJ10856, CDC50A	uc003phw.2	Q9NV96	OTTHUMG00000015050	ENST00000230461.6:c.335A>T	chr6.hg19:g.75977367T>A	ENSP00000230461:p.Lys112Met		A8K9V8|E1P539|Q658Z3|Q96H09|Q9NSL9	Missense_Mutation	SNP	ENST00000230461.6	hg19	CCDS4983.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.082970	0.76642	.	.	ENSG00000112697	ENST00000230461;ENST00000545449	.	.	.	5.28	5.28	0.74379	.	0.326351	0.37761	N	0.001944	T	0.77890	0.4198	M	0.84326	2.69	0.80722	D	1	B	0.27264	0.173	P	0.47251	0.542	T	0.80511	-0.1350	9	0.66056	D	0.02	.	14.8721	0.70465	0.0:0.0:0.0:1.0	.	112	Q9NV96	CC50A_HUMAN	M	112;96	.	ENSP00000230461:K112M	K	-	2	0	TMEM30A	76034087	1.000000	0.71417	0.998000	0.56505	0.886000	0.51366	7.596000	0.82721	1.997000	0.58415	0.454000	0.30748	AAG		0.363	TMEM30A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041248.2	NM_018247		A	75977367	T	A	75977367	3	1	764	1	0	0	0	0	1	0	0	0	16158	1609	56	5	774	5	TMEM30A	6	75977367	Missense_Mutation	SNP	T	TCGA-MH-A561-01A-11D-A26P-10	115486	75977367	95137700	44	45065											
MAP3K7	6885	hgsc.bcm.edu	37	6	91226399	91226400	+	Splice_Site	DEL	GC	GC	-			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	GC	GC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr6:91226399_91226400delGC	ENST00000369329.3	-	17	1802_1803	c.1641_1642delGC	c.(1639-1644)aagcaa>aaaa	p.Q548fs	MAP3K7_ENST00000479630.1_5'UTR|MAP3K7_ENST00000369332.3_Splice_Site_p.Q521fs|MAP3K7_ENST00000369320.1_Splice_Site_p.Q202fs|MAP3K7_ENST00000369327.3_Splice_Site_p.A482fs|MAP3K7_ENST00000369325.3_Splice_Site_p.A509fs	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	548					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|Fc-epsilon receptor signaling pathway (GO:0038095)|histone H3 acetylation (GO:0043966)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|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 apoptotic signaling pathway (GO:2001234)|negative regulation of ripoptosome assembly involved in necroptotic process (GO:1902443)|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 I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|regulation of reactive oxygen species metabolic process (GO:2000377)|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)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		ACTAGTTCTTGCCTACAAACAA	0.351																																																0																																										SO:0001630	splice_region_variant	6885			AB009356	CCDS5027.1, CCDS5028.1, CCDS5029.1, CCDS5030.1	6q15	2011-06-09			ENSG00000135341	ENSG00000135341		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6859	protein-coding gene	gene with protein product		602614		TAK1		9466656	Standard	NM_003188		Approved	MEKK7	uc003pnz.2	O43318	OTTHUMG00000015217	ENST00000369329.3:c.1641-1GC>-	chr6.hg19:g.91226399_91226400delGC			B2RE27|E1P523|O43317|O43319|Q5TDN2|Q5TDN3|Q5TDT7|Q9NTR3|Q9NZ70	Frame_Shift_Del	DEL	ENST00000369329.3	hg19	CCDS5028.1																																																																																				0.351	MAP3K7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041530.1	NM_145331	Frame_Shift_Del	-	91226400	GC	-	91226399	8	5	764	1	0	1	0	1	0	0	1	0	9257	1333	46	0	182	0	MAP3K7	6	91226399	Splice_Site	DEL	GC	TCGA-MH-A561-01A-11D-A26P-10	15249032	91226399	79888668	45	45066											
GRIK2	2898	hgsc.bcm.edu	37	6	102513771	102513771	+	Intron	DEL	T	T	-			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr6:102513771delT	ENST00000421544.1	+	16	3052				GRIK2_ENST00000369134.4_Intron|GRIK2_ENST00000369138.1_Frame_Shift_Del_p.L888fs|GRIK2_ENST00000369137.3_Intron|GRIK2_ENST00000413795.1_Intron	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2						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)	ttcatcatcattatcatcatG	0.363																																																0													287	228	246					6																	102513771		692	1590	2282	SO:0001627	intron_variant	2898				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.2563-2451T>-	chr6.hg19:g.102513771delT			A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Frame_Shift_Del	DEL	ENST00000421544.1	hg19	CCDS5048.1																																																																																				0.363	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			-	102513771	T	-	102513771	6	5	764	0	1	1	0	1	0	0	0	0	6776	1490	52	0		0	GRIK2	6	102513771	Intron	DEL	T	TCGA-MH-A561-01A-11D-A26P-10	11287372	102513771	68601296	46	45067											
HDAC2	3066	hgsc.bcm.edu	37	6	114264645	114264645	+	Silent	SNP	A	A	C			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr6:114264645A>C	ENST00000519065.1	-	12	1624	c.1248T>G	c.(1246-1248)gcT>gcG	p.A416A	HDAC2_ENST00000519108.1_Silent_p.A386A|HDAC2_ENST00000398283.2_Silent_p.A510A|HDAC2_ENST00000368632.2_Silent_p.A386A			Q92769	HDAC2_HUMAN	histone deacetylase 2	416					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)			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)	CTTCATCACAAGCTATCCGCT	0.363																																																0													126	110	115					6																	114264645		1841	4082	5923	SO:0001819	synonymous_variant	3066			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.1248T>G	chr6.hg19:g.114264645A>C			B3KRS5|B4DL58|E1P561|Q5SRI8|Q5SZ86|Q8NEH4	Silent	SNP	ENST00000519065.1	hg19	CCDS43493.2																																																																																				0.363	HDAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041909.2			C	114264645	A	C	114264645	2	2	764	1	0	0	0	0	0	0	0	1	7009	59	3	5		5	HDAC2	6	114264645	Silent	SNP	A	TCGA-MH-A561-01A-11D-A26P-10	11750874	114264645	56850422	47	45068											
ELMO1	9844	hgsc.bcm.edu	37	7	37053037	37053037	+	Missense_Mutation	SNP	C	C	T			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr7:37053037C>T	ENST00000310758.4	-	16	1951	c.1304G>A	c.(1303-1305)aGt>aAt	p.S435N	ELMO1_ENST00000341056.3_Missense_Mutation_p.S137N|ELMO1-AS1_ENST00000419535.1_RNA|ELMO1_ENST00000448602.1_Missense_Mutation_p.S435N|ELMO1_ENST00000442504.1_Missense_Mutation_p.S435N	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	435	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GCAGGTCTCACTAGCTGGAGG	0.458																																																0													79	75	76					7																	37053037		2203	4300	6503	SO:0001583	missense	9844			AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"Engulfment and cell motility proteins"	16286	protein-coding gene	gene with protein product		606420	"engulfment and cell motility 1 (ced-12 homolog, C. elegans)"			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.1304G>A	chr7.hg19:g.37053037C>T	ENSP00000312185:p.Ser435Asn		A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	ENST00000310758.4	hg19	CCDS5449.1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.774299	0.49786	.	.	ENSG00000155849	ENST00000341056;ENST00000310758;ENST00000361912;ENST00000442504;ENST00000448602	T;T;T;T	0.30981	1.51;1.51;1.51;1.51	6.06	6.06	0.98353	Engulfment/cell motility, ELMO (2);	0.147484	0.64402	D	0.000020	T	0.21841	0.0526	N	0.12527	0.23	0.48571	D	0.999678	B	0.06786	0.001	B	0.12156	0.007	T	0.07366	-1.0776	10	0.22109	T	0.4	.	20.2348	0.98355	0.0:1.0:0.0:0.0	.	435	Q92556	ELMO1_HUMAN	N	137;435;339;435;435	ENSP00000342142:S137N;ENSP00000312185:S435N;ENSP00000406952:S435N;ENSP00000394458:S435N	ENSP00000312185:S435N	S	-	2	0	ELMO1	37019562	1.000000	0.71417	0.988000	0.46212	0.765000	0.43378	4.885000	0.63142	2.879000	0.98667	0.650000	0.86243	AGT		0.458	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442		T	37053037	C	T	37053037	3	4	764	1	0	0	0	0	1	0	0	0	5067	565	20	2	907	2	ELMO1	7	37053037	Missense_Mutation	SNP	C	TCGA-MH-A561-01A-11D-A26P-10		37053037	122085626	48	45069											
MLL5	55904	hgsc.bcm.edu	37	7	104717538	104717538	+	Missense_Mutation	SNP	G	G	C			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr7:104717538G>C	ENST00000311117.3	+	10	1442	c.897G>C	c.(895-897)gaG>gaC	p.E299D	KMT2E_ENST00000257745.4_Missense_Mutation_p.E299D|KMT2E_ENST00000334877.4_Missense_Mutation_p.E299D|KMT2E_ENST00000476671.1_Missense_Mutation_p.E299D|KMT2E_ENST00000334914.7_5'UTR	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	299					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)										TTCAGAGGGAGGCACAAAGAA	0.393																																																0													125	115	118					7																	104717538		2203	4300	6503	SO:0001583	missense	55904			AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	18541	protein-coding gene	gene with protein product		608444	"myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.897G>C	chr7.hg19:g.104717538G>C	ENSP00000312379:p.Glu299Asp		B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	ENST00000311117.3	hg19	CCDS34723.1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.576129	0.65878	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745;ENST00000478990;ENST00000476671;ENST00000537308	D;D;D;D;D	0.95756	-2.92;-2.54;-2.92;-3.8;-3.28	6.07	4.28	0.50868	.	0.000000	0.64402	D	0.000001	D	0.94185	0.8134	L	0.44542	1.39	0.80722	D	1	D;P	0.67145	0.996;0.943	P;P	0.54499	0.754;0.576	D	0.91766	0.5424	10	0.14656	T	0.56	.	12.3705	0.55252	0.1346:0.0:0.8654:0.0	.	299;299	Q8IZD2;Q8IZD2-3	MLL5_HUMAN;.	D	299;299;299;299;299;157;299;233	ENSP00000312379:E299D;ENSP00000335599:E299D;ENSP00000257745:E299D;ENSP00000419883:E157D;ENSP00000417888:E299D	ENSP00000257745:E299D	E	+	3	2	MLL5	104504774	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.197000	0.72100	1.587000	0.49959	-0.136000	0.14681	GAG		0.393	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			C	104717538	G	C	104717538	3	2	764	1	0	0	0	0	1	0	0	0	9626	991	35	4	927	4	MLL5	7	104717538	Missense_Mutation	SNP	G	TCGA-MH-A561-01A-11D-A26P-10	67664501	104717538	54421125	49	45070											
LAMB4	22798	hgsc.bcm.edu	37	7	107732109	107732120	+	In_Frame_Del	DEL	CCTCGTAGAGAT	CCTCGTAGAGAT	-			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	CCTCGTAGAGAT	CCTCGTAGAGAT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr7:107732109_107732120delCCTCGTAGAGAT	ENST00000388781.3	-	14	1735_1746	c.1652_1663delATCTCTACGAGG	c.(1651-1665)tatctctacgaggca>tca	p.551_555YLYEA>S	LAMB4_ENST00000418464.1_In_Frame_Del_p.551_555YLYEA>S|LAMB4_ENST00000205386.4_In_Frame_Del_p.551_555YLYEA>S|LAMB4_ENST00000388780.3_In_Frame_Del_p.551_555YLYEA>S|LAMB4_ENST00000414450.2_In_Frame_Del_p.551_555YLYEA>S	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	551	Laminin EGF-like 5; truncated. {ECO:0000255|PROSITE-ProRule:PRU00460}.|Laminin IV type B. {ECO:0000255|PROSITE- ProRule:PRU00462}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)		p.Y553D(1)		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						GCTTCCTCTGCCTCGTAGAGATAGAAATTCAA	0.491																																																1	Substitution - Missense(1)	prostate(1)																																								SO:0001651	inframe_deletion	22798			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.1652_1663delATCTCTACGAGG	chr7.hg19:g.107732109_107732120delCCTCGTAGAGAT	ENSP00000373433:p.Tyr551_Ala555delinsSer		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	In_Frame_Del	DEL	ENST00000388781.3	hg19	CCDS34732.1																																																																																				0.491	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		-	107732120	CCTCGTAGAGAT	-	107732109	7	5	764	1	0	1	0	1	0	0	0	0	8615	739	26	0	3706	0	LAMB4	7	107732109	In_Frame_Del	DEL	CCTCGTAGAGAT	TCGA-MH-A561-01A-11D-A26P-10	3014571	107732109	51406554	50	45071											
MET	4233	hgsc.bcm.edu	37	7	116423474	116423474	+	Missense_Mutation	SNP	T	T	C	rs121913245		TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr7:116423474T>C	ENST00000318493.6	+	19	3990	c.3803T>C	c.(3802-3804)aTg>aCg	p.M1268T	MET_ENST00000539704.1_Missense_Mutation_p.M120T|MET_ENST00000397752.3_Missense_Mutation_p.M1250T			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)	p.M1268T(4)		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)			GTGAAGTGGATGGCTTTGGAA	0.393			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																														Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	4	Substitution - Missense(4)	kidney(4)	GRCh37	CM992181	MET	M	rs121913245						93	92	92					7																	116423474		1872	4102	5974	SO:0001583	missense	4233	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	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.3803T>C	chr7.hg19:g.116423474T>C	ENSP00000317272:p.Met1268Thr		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	hg19	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	T	18.99	3.740165	0.69304	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000539704	T;T;T	0.37752	1.18;1.18;1.18	5.68	5.68	0.88126	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	T	0.61714	0.2369	M	0.75264	2.295	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.97110	1.0;1.0	T	0.65734	-0.6096	10	0.87932	D	0	.	16.2225	0.82267	0.0:0.0:0.0:1.0	.	1268;1250	P08581-2;P08581	.;MET_HUMAN	T	1250;1268;120	ENSP00000380860:M1250T;ENSP00000317272:M1268T;ENSP00000445020:M120T	ENSP00000317272:M1268T	M	+	2	0	MET	116210710	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.997000	0.88414	2.289000	0.77006	0.460000	0.39030	ATG		0.393	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			C	116423474	T	C	116423474	3	2	764	1	0	0	0	0	1	0	0	0	9487	1464	51	3	3873	3	MET	7	116423474	Missense_Mutation	SNP	T	TCGA-MH-A561-01A-11D-A26P-10	8691365	116423474	42715189	51	45072											
GPR37	2861	hgsc.bcm.edu	37	7	124405027	124405027	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr7:124405027G>A	ENST00000303921.2	-	1	654	c.4C>T	c.(4-6)Cga>Tga	p.R2*		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	2					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						CCCGGGGCTCGCATGGCTTGG	0.637																																																0													7	6	7					7																	124405027		2164	4249	6413	SO:0001587	stop_gained	2861				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.4C>T	chr7.hg19:g.124405027G>A	ENSP00000306449:p.Arg2*		A4D0Y6|O00348|O14768|Q8TD39	Nonsense_Mutation	SNP	ENST00000303921.2	hg19	CCDS5792.1	.	.	.	.	.	.	.	.	.	.	G	40	8.449312	0.98815	.	.	ENSG00000170775	ENST00000303921	.	.	.	5.31	3.45	0.39498	.	0.960325	0.08673	N	0.910555	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	-4.8252	6.6615	0.23016	0.0898:0.0:0.7349:0.1753	.	.	.	.	X	2	.	ENSP00000306449:R2X	R	-	1	2	GPR37	124192263	0.983000	0.35010	0.703000	0.30354	0.397000	0.30659	1.951000	0.40333	0.767000	0.33267	0.655000	0.94253	CGA		0.637	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347873.1	NM_005302		A	124405027	G	A	124405027	4	1	764	1	0	0	0	0	0	1	0	0	6693	1095	38	1	1845	1	GPR37	7	124405027	Nonsense_Mutation	SNP	G	TCGA-MH-A561-01A-11D-A26P-10	7981553	124405027	34733636	52	45073											
NRG1	3084	hgsc.bcm.edu	37	8	32616873	32616873	+	Missense_Mutation	SNP	A	A	T			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr8:32616873A>T	ENST00000405005.3	+	10	980	c.980A>T	c.(979-981)gAa>gTa	p.E327V	NRG1_ENST00000287842.3_Missense_Mutation_p.E324V|NRG1_ENST00000287845.5_Missense_Mutation_p.E298V|NRG1_ENST00000523079.1_Missense_Mutation_p.E324V|NRG1_ENST00000338921.4_Missense_Mutation_p.E335V|NRG1_ENST00000539990.1_Missense_Mutation_p.E170V|NRG1_ENST00000519301.1_Missense_Mutation_p.E277V|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000356819.4_Missense_Mutation_p.E332V|NRG1_ENST00000521670.1_Missense_Mutation_p.E327V			Q02297	NRG1_HUMAN	neuregulin 1	327					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GTTGAGAGAGAAGCAGAGACA	0.408																																																0													201	169	180					8																	32616873		2203	4300	6503	SO:0001583	missense	3084			L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"Immunoglobulin superfamily / I-set domain containing"	7997	protein-coding gene	gene with protein product		142445	"NRG1 intronic transcript 2 (non-protein coding)"	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.980A>T	chr8.hg19:g.32616873A>T	ENSP00000384620:p.Glu327Val		A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Missense_Mutation	SNP	ENST00000405005.3	hg19	CCDS6085.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.300044	0.81136	.	.	ENSG00000157168	ENST00000518104;ENST00000519301;ENST00000523534;ENST00000523079;ENST00000338921;ENST00000356819;ENST00000287840;ENST00000287845;ENST00000287842;ENST00000405005;ENST00000521670;ENST00000539990	T;T;T;T;T;T;T;T;T;T;T;T	0.62364	0.03;0.03;0.03;0.03;0.03;0.03;0.03;0.03;0.03;0.03;0.03;0.03	6.16	6.16	0.99307	Neuregulin 1-related, C-terminal (1);	0.100274	0.64402	D	0.000002	T	0.70824	0.3268	L	0.41573	1.285	0.53688	D	0.999971	D;D;D;D;D;D;D;D;D;D;D	0.89917	0.996;1.0;1.0;1.0;1.0;1.0;0.983;0.999;0.999;1.0;1.0	D;D;D;D;D;D;P;D;D;D;D	0.97110	0.997;0.999;1.0;0.984;0.991;1.0;0.592;0.984;0.985;0.984;0.999	T	0.64694	-0.6347	10	0.14252	T	0.57	-8.3311	16.8061	0.85666	1.0:0.0:0.0:0.0	.	170;173;324;298;332;323;335;324;327;332;327	B7Z1E3;B7Z1D7;E9PHH4;F8W9E3;Q7RTW4;B0FYA9;Q02297-2;Q02297-7;Q02297;Q02297-6;Q02297-3	.;.;.;.;.;.;.;.;NRG1_HUMAN;.;.	V	294;277;400;324;335;332;327;298;324;327;327;170	ENSP00000430053:E294V;ENSP00000429582:E277V;ENSP00000429067:E400V;ENSP00000430120:E324V;ENSP00000343395:E335V;ENSP00000349275:E332V;ENSP00000287840:E327V;ENSP00000287845:E298V;ENSP00000287842:E324V;ENSP00000384620:E327V;ENSP00000428828:E327V;ENSP00000439276:E170V	ENSP00000287840:E327V	E	+	2	0	NRG1	32736415	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.312000	0.65792	2.367000	0.80283	0.528000	0.53228	GAA		0.408	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1			T	32616873	A	T	32616873	3	4	764	1	0	0	0	0	1	0	0	0	10649	246	9	5	2614	5	NRG1	8	32616873	Missense_Mutation	SNP	A	TCGA-MH-A561-01A-11D-A26P-10		32616873	113747149	53	45074											
NKX6-3	157848	hgsc.bcm.edu	37	8	41504065	41504065	+	Missense_Mutation	SNP	G	G	T			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr8:41504065G>T	ENST00000524115.2	-	2	314	c.311C>A	c.(310-312)cCg>cAg	p.P104Q		NM_152568.2	NP_689781.1	A6NJ46	NKX63_HUMAN	NK6 homeobox 3	234					cell fate determination (GO:0001709)|glandular epithelial cell differentiation (GO:0002067)|negative regulation of epithelial cell differentiation (GO:0030857)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			lung(1)	1	Ovarian(28;0.00541)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Esophageal squamous(32;0.0844)|Hepatocellular(245;0.154)	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)			GGGGTCCAGCGGCTTGTTGTA	0.731																																																0													43	38	39					8																	41504065		2201	4300	6501	SO:0001583	missense	157848			AK057898	CCDS6118.1	8p11.21	2014-08-12	2007-07-09		ENSG00000165066	ENSG00000165066		"Homeoboxes / ANTP class : NKL subclass"	26328	protein-coding gene	gene with protein product		610772	"NK6 transcription factor related, locus 3 (Drosophila)"			16326147	Standard	XM_005273422		Approved	FLJ25169	uc003xoa.2	A6NJ46	OTTHUMG00000164083	ENST00000524115.2:c.311C>A	chr8.hg19:g.41504065G>T	ENSP00000429553:p.Pro104Gln		Q96LR0	Missense_Mutation	SNP	ENST00000524115.2	hg19	CCDS6118.1	.	.	.	.	.	.	.	.	.	.	G	32	5.124514	0.94429	.	.	ENSG00000165066	ENST00000524115;ENST00000425142;ENST00000518699	T;T	0.57907	0.37;0.37	4.9	4.02	0.46733	.	0.000000	0.85682	D	0.000000	T	0.70718	0.3256	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.73170	-0.4067	9	0.56958	D	0.05	.	12.1998	0.54319	0.0832:0.0:0.9168:0.0	.	104	A6NJ46-2	.	Q	104;234;234	ENSP00000429553:P104Q;ENSP00000428361:P234Q	ENSP00000414183:P234Q	P	-	2	0	NKX6-3	41623222	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	7.856000	0.86956	1.066000	0.40716	0.491000	0.48974	CCG		0.731	NKX6-3-002	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000377166.2	NM_152568		T	41504065	G	T	41504065	3	4	764	1	0	0	0	0	1	0	0	0	10461	1116	39	4	100	4	NKX6-3	8	41504065	Missense_Mutation	SNP	G	TCGA-MH-A561-01A-11D-A26P-10	8887192	41504065	104859957	54	45075											
NCOA2	10499	hgsc.bcm.edu	37	8	71053580	71053580	+	Missense_Mutation	SNP	G	G	A			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr8:71053580G>A	ENST00000452400.2	-	14	3048	c.2867C>T	c.(2866-2868)cCg>cTg	p.P956L	NCOA2_ENST00000267974.4_Missense_Mutation_p.P44L	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	956					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)			CGAACTCTGCGGTGCCCATTC	0.532			T	"RUNXBP2, HEY1"	"AML, Chondrosarcoma"																																		Dom	yes		8	8q13.1	10499	nuclear receptor coactivator 2 (TIF2)		L	0													57	60	59					8																	71053580		2052	4211	6263	SO:0001583	missense	10499			X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.2867C>T	chr8.hg19:g.71053580G>A	ENSP00000399968:p.Pro956Leu		Q14CD2	Missense_Mutation	SNP	ENST00000452400.2	hg19	CCDS47872.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.585|1.585	-0.530666|-0.530666	0.04112|0.04112	.|.	.|.	ENSG00000140396|ENSG00000140396	ENST00000452400;ENST00000267974|ENST00000518363	T;T|.	0.06849|.	4.9;3.25|.	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	0.483437|.	0.22937|.	N|.	0.053835|.	T|T	0.28532|0.28532	0.0706|0.0706	N|N	0.04880|0.04880	-0.145|-0.145	0.09310|0.09310	N|N	0.999999|0.999999	P;B|.	0.35192|.	0.489;0.059|.	B;B|.	0.24974|.	0.057;0.01|.	T|T	0.19289|0.19289	-1.0310|-1.0310	10|5	0.02654|.	T|.	1|.	.|.	16.5528|16.5528	0.84476|0.84476	0.0:0.1389:0.8611:0.0|0.0:0.1389:0.8611:0.0	.|.	44;956|.	F8WAJ2;Q15596|.	.;NCOA2_HUMAN|.	L|C	956;44|57	ENSP00000399968:P956L;ENSP00000267974:P44L|.	ENSP00000267974:P44L|.	P|R	-|-	2|1	0|0	NCOA2|NCOA2	71216134|71216134	0.778000|0.778000	0.28640|0.28640	0.149000|0.149000	0.22428|0.22428	0.831000|0.831000	0.47069|0.47069	4.231000|4.231000	0.58639|0.58639	2.820000|2.820000	0.97059|0.97059	0.650000|0.650000	0.86243|0.86243	CCG|CGC		0.532	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1			A	71053580	G	A	71053580	3	1	764	1	0	0	0	0	1	0	0	0	10231	1116	39	1	1567	1	NCOA2	8	71053580	Missense_Mutation	SNP	G	TCGA-MH-A561-01A-11D-A26P-10	29549515	71053580	75310442	55	45076											
CSMD3	114788	hgsc.bcm.edu	37	8	113316994	113316994	+	Missense_Mutation	SNP	G	G	A			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr8:113316994G>A	ENST00000297405.5	-	52	8466	c.8222C>T	c.(8221-8223)cCt>cTt	p.P2741L	CSMD3_ENST00000343508.3_Missense_Mutation_p.P2701L|CSMD3_ENST00000352409.3_Missense_Mutation_p.P2671L|CSMD3_ENST00000455883.2_Intron	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2741	Sushi 16. {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						AGTACCATTAGGAAGACATTC	0.388										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																						0													133	118	123					8																	113316994		2203	4300	6503	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.8222C>T	chr8.hg19:g.113316994G>A	ENSP00000297405:p.Pro2741Leu		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	hg19	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.891954	0.52014	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000352409	T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08	4.9	4.9	0.64082	Complement control module (2);Sushi/SCR/CCP (3);	0.178361	0.34200	N	0.004165	T	0.48259	0.1490	N	0.13272	0.32	0.54753	D	0.99998	B;B	0.30211	0.273;0.006	B;B	0.30105	0.111;0.026	T	0.47849	-0.9085	10	0.38643	T	0.18	.	18.4479	0.90691	0.0:0.0:1.0:0.0	.	2741;2701	Q7Z407;Q7Z407-2	CSMD3_HUMAN;.	L	2701;2741;2011;2671	ENSP00000345799:P2701L;ENSP00000297405:P2741L;ENSP00000341558:P2011L;ENSP00000343124:P2671L	ENSP00000297405:P2741L	P	-	2	0	CSMD3	113386170	1.000000	0.71417	1.000000	0.80357	0.427000	0.31564	9.775000	0.98995	2.385000	0.81259	0.561000	0.74099	CCT		0.388	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		A	113316994	G	A	113316994	3	1	764	1	0	0	0	0	1	0	0	0	3948	1000	35	2	2981	2	CSMD3	8	113316994	Missense_Mutation	SNP	G	TCGA-MH-A561-01A-11D-A26P-10	42263414	113316994	33047028	56	45077											
PHF20L1	51105	hgsc.bcm.edu	37	8	133806739	133806739	+	Missense_Mutation	SNP	A	A	G			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr8:133806739A>G	ENST00000395386.2	+	3	466	c.167A>G	c.(166-168)gAg>gGg	p.E56G	PHF20L1_ENST00000395390.2_Missense_Mutation_p.E56G|PHF20L1_ENST00000395376.1_Missense_Mutation_p.E56G|PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000395379.1_Missense_Mutation_p.E56G|PHF20L1_ENST00000337920.4_Missense_Mutation_p.E56G	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	56	Tudor 1.						zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			CGTTATGATGAGTGGATTTAC	0.408																																																0													134	122	126					8																	133806739		2203	4300	6503	SO:0001583	missense	51105			AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"Tudor domain containing", "Zinc fingers, PHD-type"	24280	protein-coding gene	gene with protein product	"tudor domain containing 20B"					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.167A>G	chr8.hg19:g.133806739A>G	ENSP00000378784:p.Glu56Gly		A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Missense_Mutation	SNP	ENST00000395386.2	hg19	CCDS6367.2	.	.	.	.	.	.	.	.	.	.	A	31	5.078557	0.94050	.	.	ENSG00000129292	ENST00000395383;ENST00000395379;ENST00000361997;ENST00000395386;ENST00000315808;ENST00000337920;ENST00000395376;ENST00000522580;ENST00000395390	T;T;T;T;T;T;T;T	0.56275	0.53;0.48;0.51;1.1;0.47;0.49;0.55;1.13	5.91	5.91	0.95273	Tudor-like, plant (1);Tudor domain (1);	0.000000	0.85682	D	0.000000	T	0.77942	0.4206	M	0.90759	3.145	0.80722	D	1	D;P;D;D;P	0.89917	1.0;0.735;1.0;1.0;0.714	D;P;D;D;P	0.91635	0.997;0.734;0.999;0.994;0.669	T	0.82833	-0.0262	10	0.87932	D	0	7.5356	15.5298	0.75948	1.0:0.0:0.0:0.0	.	56;56;56;56;56	F8W9L8;A8MW92;A8MW92-4;A8MW92-2;A8MUE8	.;P20L1_HUMAN;.;.;.	G	56;56;56;56;56;56;56;14;56	ENSP00000378781:E56G;ENSP00000378777:E56G;ENSP00000355301:E56G;ENSP00000378784:E56G;ENSP00000324519:E56G;ENSP00000338269:E56G;ENSP00000378775:E56G;ENSP00000378788:E56G	ENSP00000324519:E56G	E	+	2	0	PHF20L1	133875921	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.317000	0.96327	2.259000	0.74868	0.528000	0.53228	GAG		0.408	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3	NM_016018		G	133806739	A	G	133806739	3	3	764	1	0	0	0	0	1	0	0	0	11834	304	11	3	173	3	PHF20L1	8	133806739	Missense_Mutation	SNP	A	TCGA-MH-A561-01A-11D-A26P-10	20489745	133806739	12557283	57	45078											
PTPN3	5774	hgsc.bcm.edu	37	9	112219466	112219466	+	Frame_Shift_Del	DEL	C	C	-			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr9:112219466delC	ENST00000374541.2	-	4	380	c.276delG	c.(274-276)aggfs	p.R92fs	PTPN3_ENST00000262539.3_Frame_Shift_Del_p.E10fs	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	92	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				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						TTAACTGCTTCCTGATGGCTT	0.413																																																0													197	168	177					9																	112219466		2203	4300	6503	SO:0001589	frameshift_variant	5774				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.276delG	chr9.hg19:g.112219466delC	ENSP00000363667:p.Arg92fs		A0AUW9|E7EN99|E9PGU7	Frame_Shift_Del	DEL	ENST00000374541.2	hg19	CCDS6776.1																																																																																				0.413	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4			-	112219466	C	-	112219466	7	5	764	1	0	1	0	1	0	0	0	0	12795	854	30	0	2557	0	PTPN3	9	112219466	Frame_Shift_Del	DEL	C	TCGA-MH-A561-01A-11D-A26P-10		112219466	28993965	58	45079											
PALM2	114299	hgsc.bcm.edu	37	9	112705604	112705604	+	Missense_Mutation	SNP	A	A	G			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr9:112705604A>G	ENST00000374531.2	+	7	1113	c.1039A>G	c.(1039-1041)Aca>Gca	p.T347A	PALM2_ENST00000314527.4_Missense_Mutation_p.T379A|PALM2_ENST00000448454.2_Missense_Mutation_p.T381A|PALM2-AKAP2_ENST00000302798.7_Intron|PALM2-AKAP2_ENST00000374530.3_Intron|AKAP2_ENST00000510514.5_Intron|PALM2_ENST00000483909.1_Missense_Mutation_p.T345A|AKAP2_ENST00000555236.1_Intron	NM_001037293.2	NP_001032370.1	Q8IXS6	PALM2_HUMAN	paralemmin 2	347					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						CTCAGACACCACAGAGCCCTC	0.552																																																0													113	110	111					9																	112705604		2203	4300	6503	SO:0001583	missense	114299			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.1039A>G	chr9.hg19:g.112705604A>G	ENSP00000363656:p.Thr347Ala		A9Z1X9|Q8N9D5|Q96DU1	Missense_Mutation	SNP	ENST00000374531.2	hg19	CCDS35099.1	.	.	.	.	.	.	.	.	.	.	A	15.03	2.711967	0.48517	.	.	ENSG00000243444;ENSG00000243444;ENSG00000243444;ENSG00000243444;ENSG00000157654	ENST00000374531;ENST00000448454;ENST00000483909;ENST00000314527;ENST00000413420	T;T;T;T;T	0.22945	2.36;2.36;2.36;2.36;1.93	5.86	5.86	0.93980	.	.	.	.	.	T	0.33498	0.0865	L	0.59436	1.845	0.80722	D	1	P;P	0.48503	0.788;0.911	P;P	0.51516	0.548;0.672	T	0.13710	-1.0499	9	0.05351	T	0.99	.	15.4456	0.75228	1.0:0.0:0.0:0.0	.	347;381	Q8IXS6;D3YTA4	PALM2_HUMAN;.	A	347;381;345;379;379	ENSP00000363656:T347A;ENSP00000400206:T381A;ENSP00000417525:T345A;ENSP00000323805:T379A;ENSP00000397839:T379A	ENSP00000397839:T379A	T	+	1	0	PALM2-AKAP2;PALM2	111745425	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.339000	0.96797	2.244000	0.73946	0.528000	0.53228	ACA		0.552	PALM2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053604.1	NM_001037293		G	112705604	A	G	112705604	3	3	764	1	0	0	0	0	1	0	0	0	11411	159	6	3	1171	3	PALM2	9	112705604	Missense_Mutation	SNP	A	TCGA-MH-A561-01A-11D-A26P-10	486138	112705604	28507827	59	45080											
FAM102A	399665	hgsc.bcm.edu	37	9	130707096	130707096	+	Silent	SNP	G	G	A			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr9:130707096G>A	ENST00000373095.1	-	9	1374	c.999C>T	c.(997-999)atC>atT	p.I333I	FAM102A_ENST00000300434.3_5'UTR|FAM102A_ENST00000373084.4_Silent_p.I191I	NM_001035254.2	NP_001030331.1	Q5T9C2	F102A_HUMAN	family with sequence similarity 102, member A	333										breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						GGCTCTGCACGATCTTCTCCA	0.672																																																0													89	64	72					9																	130707096		2203	4300	6503	SO:0001819	synonymous_variant	399665				CCDS6888.1, CCDS35150.1	9q34.11	2012-11-05	2005-11-17	2005-11-17	ENSG00000167106	ENSG00000167106			31419	protein-coding gene	gene with protein product	"sym-3 homolog A (C. elegans)"	610891	"chromosome 9 open reading frame 132"	C9orf132			Standard	NM_001035254		Approved	Eeig1, bA203J24.7, SYM-3A	uc004bsx.2	Q5T9C2	OTTHUMG00000020720	ENST00000373095.1:c.999C>T	chr9.hg19:g.130707096G>A			A2A329|Q8TEL4	Silent	SNP	ENST00000373095.1	hg19	CCDS35150.1																																																																																				0.672	FAM102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054298.2			A	130707096	G	A	130707096	2	1	764	1	0	0	0	0	0	0	0	1	5384	1048	37	1		1	FAM102A	9	130707096	Silent	SNP	G	TCGA-MH-A561-01A-11D-A26P-10	18001492	130707096	10506335	60	45081											
AKR1C2	1646	hgsc.bcm.edu	37	10	5038014	5038014	+	Frame_Shift_Del	DEL	A	A	-			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr10:5038014delA	ENST00000380753.4	-	6	801	c.614delT	c.(613-615)ttcfs	p.F205fs	RP11-499O7.7_ENST00000451575.2_RNA|AKR1C2_ENST00000407674.1_Frame_Shift_Del_p.F205fs|AKR1C2_ENST00000421196.3_Frame_Shift_Del_p.F179fs|RP11-499O7.7_ENST00000440414.1_RNA	NM_205845.2	NP_995317.1	P52895	AK1C2_HUMAN	aldo-keto reductase family 1, member C2	205					cellular response to jasmonic acid stimulus (GO:0071395)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway (GO:0007186)|oxidation-reduction process (GO:0055114)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase B signaling (GO:0051897)|progesterone metabolic process (GO:0042448)|prostaglandin metabolic process (GO:0006693)|response to prostaglandin (GO:0034694)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|bile acid binding (GO:0032052)|carboxylic acid binding (GO:0031406)|ketosteroid monooxygenase activity (GO:0047086)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|phenanthrene 9,10-monooxygenase activity (GO:0018636)|prostaglandin F receptor activity (GO:0004958)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)			breast(1)|large_intestine(5)|lung(3)|skin(1)	10					Ursodeoxycholic acid(DB01586)	TGACTTGCAGAAATCCAGCAG	0.393																																																0													62	57	59					10																	5038014		2203	4296	6499	SO:0001589	frameshift_variant	1646			L32592	CCDS7062.1, CCDS44350.1	10p15-p14	2014-01-29	2012-12-04		ENSG00000151632	ENSG00000151632	1.3.1.20, 1.1.1.213	"Aldo-keto reductases"	385	protein-coding gene	gene with protein product	"dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III"	600450	"aldo-keto reductase family 1, member C2 (dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III)", "testicular 17,20-desmolase deficiency"	DDH2, TDD		9716498, 21802064	Standard	NM_001354		Approved	DD, BABP, DD2, HAKRD, MCDR2	uc001iht.3	P52895	OTTHUMG00000017584	ENST00000380753.4:c.614delT	chr10.hg19:g.5038014delA	ENSP00000370129:p.Phe205fs		A8K2N9|B4DKR9|Q14133|Q5SR16|Q7M4N1|Q96A71	Frame_Shift_Del	DEL	ENST00000380753.4	hg19	CCDS7062.1																																																																																				0.393	AKR1C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046531.1	NM_001354		-	5038014	A	-	5038014	7	5	764	1	0	1	0	1	0	0	0	0	470	246	9	0	373	0	AKR1C2	10	5038014	Frame_Shift_Del	DEL	A	TCGA-MH-A561-01A-11D-A26P-10		5038014	130496733	61	45082											
MTG1	92170	hgsc.bcm.edu	37	10	135209749	135209750	+	Frame_Shift_Ins	INS	-	-	GC			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr10:135209749_135209750insGC	ENST00000317502.6	+	3	310_311	c.260_261insGC	c.(259-264)ttggcgfs	p.A88fs	RP11-108K14.8_ENST00000468317.2_Frame_Shift_Ins_p.A93fs|MTG1_ENST00000477902.2_Frame_Shift_Ins_p.A47fs	NM_138384.2	NP_612393.2	Q9BT17	MTG1_HUMAN	mitochondrial ribosome-associated GTPase 1	88	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				GTP catabolic process (GO:0006184)|regulation of mitochondrial translation (GO:0070129)|regulation of respiratory system process (GO:0044065)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial ribosome (GO:0005761)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		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;1.21e-06)|all cancers(32;1.69e-06)|Epithelial(32;1.94e-06)		AAGATGGACTTGGCGGATCTTA	0.515																																																0																																										SO:0001589	frameshift_variant	92170				CCDS31320.1	10q26.3	2013-05-24	2013-05-24	2006-01-09	ENSG00000148824	ENSG00000148824			32159	protein-coding gene	gene with protein product			"GTP-binding protein 7", "GTP-binding protein 7 (putative)", "mitochondrial GTPase 1 homolog (S. cerevisiae)"	GTPBP7		12808030, 23396448	Standard	NM_138384		Approved		uc001lnd.3	Q9BT17	OTTHUMG00000166564	Exception_encountered	chr10.hg19:g.135209749_135209750insGC	ENSP00000323047:p.Ala88fs		Q5VWX8|Q6PIY9|Q8IYJ4|Q8NC48|Q9BVU8	Frame_Shift_Ins	INS	ENST00000317502.6	hg19	CCDS31320.1																																																																																				0.515	MTG1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051166.1	NM_138384		GC	135209750	-	GC	135209749	7	5	764	1	0	1	1	0	0	0	0	0	9928	1821	63	0	270	0	MTG1	10	135209749	Frame_Shift_Ins	INS	-	TCGA-MH-A561-01A-11D-A26P-10	130171735	135209749	324998	62	45083											
INS	3630	hgsc.bcm.edu	37	11	2181135	2181135	+	Missense_Mutation	SNP	G	G	T			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr11:2181135G>T	ENST00000397262.1	-	2	512	c.280C>A	c.(280-282)Caa>Aaa	p.Q94K	INS_ENST00000381330.4_Missense_Mutation_p.Q94K|INS_ENST00000512523.1_Missense_Mutation_p.Q82K|INS_ENST00000250971.3_Missense_Mutation_p.Q94K|INS-IGF2_ENST00000397270.1_Intron|INS-IGF2_ENST00000481781.1_5'Flank	NM_001185098.1	NP_001172027.1	P01308	INS_HUMAN	insulin	94					activation of protein kinase B activity (GO:0032148)|acute-phase response (GO:0006953)|alpha-beta T cell activation (GO:0046631)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|fatty acid homeostasis (GO:0055089)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|MAPK cascade (GO:0000165)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of fatty acid metabolic process (GO:0045922)|negative regulation of feeding behavior (GO:2000252)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of glycogen catabolic process (GO:0045818)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of protein secretion (GO:0050709)|negative regulation of proteolysis (GO:0045861)|negative regulation of respiratory burst involved in inflammatory response (GO:0060266)|negative regulation of vasodilation (GO:0045908)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cytokine secretion (GO:0050715)|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 insulin receptor signaling pathway (GO:0046628)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|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 activity (GO:0051000)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|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)|positive regulation of respiratory burst (GO:0060267)|positive regulation of vasodilation (GO:0045909)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of insulin secretion (GO:0050796)|regulation of protein localization (GO:0032880)|regulation of protein secretion (GO:0050708)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transmembrane transporter activity (GO:0022898)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	endoplasmic reticulum lumen (GO:0005788)|endosome lumen (GO:0031904)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|secretory granule lumen (GO:0034774)	hormone activity (GO:0005179)|identical protein binding (GO:0042802)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|protease binding (GO:0002020)			haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	5		Lung NSC(207;8.94e-06)|all_epithelial(84;3.17e-05)|all_lung(207;3.67e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.14)		GTACAGCATTGTTCCACAATG	0.672																																																0													63	53	57					11																	2181135		2187	4293	6480	SO:0001583	missense	3630			X70508	CCDS7729.1	11p15.5	2014-02-03			ENSG00000254647	ENSG00000254647			6081	protein-coding gene	gene with protein product		176730	"insulin-dependent diabetes mellitus 2"	IDDM2, IDDM1		6243748, 7773291	Standard	NM_000207		Approved			P01308	OTTHUMG00000009558	ENST00000397262.1:c.280C>A	chr11.hg19:g.2181135G>T	ENSP00000380432:p.Gln94Lys		Q5EEX2	Missense_Mutation	SNP	ENST00000397262.1	hg19	CCDS7729.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.445461	0.43429	.	.	ENSG00000254647	ENST00000397262;ENST00000250971;ENST00000381330;ENST00000512523	D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38	3.68	2.73	0.32206	Insulin-like (4);	.	.	.	.	D	0.94466	0.8219	M	0.89534	3.04	0.52501	D	0.999953	D;B	0.60160	0.987;0.437	D;P	0.69307	0.963;0.511	D	0.94552	0.7754	9	0.72032	D	0.01	.	11.9365	0.52876	0.0:0.1778:0.8222:0.0	.	82;94	A6XGL2;P01308	.;INS_HUMAN	K	94;94;94;82	ENSP00000380432:Q94K;ENSP00000250971:Q94K;ENSP00000370731:Q94K;ENSP00000424008:Q82K	ENSP00000250971:Q94K	Q	-	1	0	INS	2137711	1.000000	0.71417	0.918000	0.36340	0.079000	0.17450	4.878000	0.63093	0.860000	0.35481	0.462000	0.41574	CAA		0.672	INS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026395.3	NM_000207		T	2181135	G	T	2181135	3	4	764	1	0	0	0	0	1	0	0	0	7764	1386	48	4	56	4	INS	11	2181135	Missense_Mutation	SNP	G	TCGA-MH-A561-01A-11D-A26P-10		2181135	132825381	63	45084											
PDE3B	5140	hgsc.bcm.edu	37	11	14808189	14808189	+	Missense_Mutation	SNP	A	A	T			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr11:14808189A>T	ENST00000282096.4	+	3	1589	c.1236A>T	c.(1234-1236)gaA>gaT	p.E412D	PDE3B_ENST00000455098.2_Intron	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	412					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of lipid catabolic process (GO:0050995)|regulation of insulin secretion (GO:0050796)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)|protein kinase B binding (GO:0043422)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39					Caffeine(DB00201)	CCTGTTCTGAAATAGAGGACC	0.373																																																0													120	130	126					11																	14808189		2200	4294	6494	SO:0001583	missense	5140			U38178	CCDS7817.1	11p15.2	2008-03-18			ENSG00000152270	ENSG00000152270	3.1.4.17	"Phosphodiesterases"	8779	protein-coding gene	gene with protein product		602047				8884271, 16395595	Standard	NM_000922		Approved	HcGIP1	uc001mln.3	Q13370	OTTHUMG00000165898	ENST00000282096.4:c.1236A>T	chr11.hg19:g.14808189A>T	ENSP00000282096:p.Glu412Asp		B7ZM37|O00639|Q14408|Q6SEI4	Missense_Mutation	SNP	ENST00000282096.4	hg19	CCDS7817.1	.	.	.	.	.	.	.	.	.	.	a	14.21	2.468783	0.43839	.	.	ENSG00000152270	ENST00000282096	T	0.34275	1.37	5.72	3.42	0.39159	.	0.151781	0.27749	U	0.018012	T	0.36552	0.0971	N	0.20986	0.625	0.80722	D	1	D	0.69078	0.997	D	0.72625	0.978	T	0.22312	-1.0220	10	0.05959	T	0.93	.	9.8395	0.40991	0.8619:0.0:0.1381:0.0	.	412	Q13370	PDE3B_HUMAN	D	412	ENSP00000282096:E412D	ENSP00000282096:E412D	E	+	3	2	PDE3B	14764765	1.000000	0.71417	0.992000	0.48379	0.978000	0.69477	3.979000	0.56888	0.452000	0.26830	0.456000	0.33151	GAA		0.373	PDE3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386974.1	NM_000922		T	14808189	A	T	14808189	3	4	764	1	0	0	0	0	1	0	0	0	11640	11	1	5	1246	5	PDE3B	11	14808189	Missense_Mutation	SNP	A	TCGA-MH-A561-01A-11D-A26P-10	12627054	14808189	120198327	64	45085											
CHRM1	1128	hgsc.bcm.edu	37	11	62677207	62677207	+	Missense_Mutation	SNP	G	G	A			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr11:62677207G>A	ENST00000306960.3	-	2	1907	c.1366C>T	c.(1366-1368)Ccc>Tcc	p.P456S	AP000438.2_ENST00000543624.1_RNA	NM_000738.2	NP_000729.2	P11229	ACM1_HUMAN	cholinergic receptor, muscarinic 1	456					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)	TGGCGGGAGGGAGTGCGGTGC	0.667																																																0													72	79	77					11																	62677207		2201	4298	6499	SO:0001583	missense	1128			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.1366C>T	chr11.hg19:g.62677207G>A	ENSP00000306490:p.Pro456Ser		Q96RH1	Missense_Mutation	SNP	ENST00000306960.3	hg19	CCDS8040.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.857391	0.51376	.	.	ENSG00000168539	ENST00000306960	T	0.57595	0.39	4.53	3.58	0.41010	.	0.211607	0.23760	N	0.044839	T	0.37892	0.1020	N	0.24115	0.695	0.35793	D	0.822568	B	0.12630	0.006	B	0.14578	0.011	T	0.40289	-0.9571	10	0.42905	T	0.14	-15.4337	11.7385	0.51780	0.0:0.2317:0.7683:0.0	.	456	P11229	ACM1_HUMAN	S	456	ENSP00000306490:P456S	ENSP00000306490:P456S	P	-	1	0	CHRM1	62433783	1.000000	0.71417	0.993000	0.49108	0.930000	0.56654	5.691000	0.68249	0.995000	0.38917	0.561000	0.74099	CCC		0.667	CHRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396178.1	NM_000738		A	62677207	G	A	62677207	3	1	764	1	0	0	0	0	1	0	0	0	3378	1174	41	2	20	2	CHRM1	11	62677207	Missense_Mutation	SNP	G	TCGA-MH-A561-01A-11D-A26P-10	47869018	62677207	72329309	65	45086											
CHRM1	1128	hgsc.bcm.edu	37	11	62677510	62677510	+	Missense_Mutation	SNP	A	A	T			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr11:62677510A>T	ENST00000306960.3	-	2	1604	c.1063T>A	c.(1063-1065)Ttc>Atc	p.F355I	AP000438.2_ENST00000543624.1_RNA	NM_000738.2	NP_000729.2	P11229	ACM1_HUMAN	cholinergic receptor, muscarinic 1	355					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)	ACCAGCGAGAAGGTCTTCCGC	0.592																																																0													55	53	54					11																	62677510		2201	4298	6499	SO:0001583	missense	1128			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.1063T>A	chr11.hg19:g.62677510A>T	ENSP00000306490:p.Phe355Ile		Q96RH1	Missense_Mutation	SNP	ENST00000306960.3	hg19	CCDS8040.1	.	.	.	.	.	.	.	.	.	.	A	11.63	1.696730	0.30142	.	.	ENSG00000168539	ENST00000306960;ENST00000543973	T;T	0.72051	-0.62;-0.62	4.49	4.49	0.54785	GPCR, rhodopsin-like superfamily (1);	0.232532	0.26293	N	0.025212	T	0.43634	0.1256	N	0.04275	-0.24	0.36087	D	0.843175	B	0.14805	0.011	B	0.17098	0.017	T	0.45920	-0.9228	10	0.17369	T	0.5	-24.428	7.3553	0.26714	0.8052:0.0:0.0:0.1948	.	355	P11229	ACM1_HUMAN	I	355	ENSP00000306490:F355I;ENSP00000441188:F355I	ENSP00000306490:F355I	F	-	1	0	CHRM1	62434086	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.101000	0.31037	1.870000	0.54199	0.459000	0.35465	TTC		0.592	CHRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396178.1	NM_000738		T	62677510	A	T	62677510	3	4	764	1	0	0	0	0	1	0	0	0	3378	72	3	5	323	5	CHRM1	11	62677510	Missense_Mutation	SNP	A	TCGA-MH-A561-01A-11D-A26P-10	303	62677510	72329006	66	45087											
SYTL2	54843	hgsc.bcm.edu	37	11	85409045	85409045	+	Missense_Mutation	SNP	A	A	C	rs554484063		TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr11:85409045A>C	ENST00000528231.1	-	16	2707	c.2430T>G	c.(2428-2430)agT>agG	p.S810R	SYTL2_ENST00000354566.3_Missense_Mutation_p.S1148R|SYTL2_ENST00000529581.1_Missense_Mutation_p.S252R|SYTL2_ENST00000389960.4_Missense_Mutation_p.S786R|SYTL2_ENST00000524452.1_Missense_Mutation_p.S786R|SYTL2_ENST00000525702.1_Missense_Mutation_p.S252R|SYTL2_ENST00000527523.1_Missense_Mutation_p.S778R|SYTL2_ENST00000389958.3_Missense_Mutation_p.S241R|SYTL2_ENST00000359152.5_Missense_Mutation_p.S1656R|SYTL2_ENST00000533892.1_Missense_Mutation_p.S212R|SYTL2_ENST00000525423.1_Missense_Mutation_p.S1132R|SYTL2_ENST00000316356.4_Missense_Mutation_p.S811R	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	810	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		AATTTAGATGACTTCCCCTTA	0.393																																																0													96	87	90					11																	85409045		2203	4299	6502	SO:0001583	missense	54843			AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"chromosome 11 synaptotagmin", "breast cancer-associated antigen SGA-72M", "protein phosphatase 1, regulatory subunit 151"	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.2430T>G	chr11.hg19:g.85409045A>C	ENSP00000431701:p.Ser810Arg		B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	ENST00000528231.1	hg19	CCDS53688.1	.	.	.	.	.	.	.	.	.	.	A	14.92	2.679575	0.47886	.	.	ENSG00000137501	ENST00000389960;ENST00000359152;ENST00000354566;ENST00000316356;ENST00000525702;ENST00000525423;ENST00000529581;ENST00000389958;ENST00000530351;ENST00000528231;ENST00000533892;ENST00000527523;ENST00000524452	T;T;T;T;T;T;T;T;T;T;T;T;T	0.08193	3.12;3.12;3.12;3.12;3.12;3.12;3.12;3.12;3.12;3.12;3.12;3.12;3.12	5.93	4.98	0.66077	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.357017	0.24240	N	0.040262	T	0.09335	0.0230	N	0.12637	0.245	0.30841	N	0.735693	B;B;B;B;B;D;P;D;B;B	0.54047	0.284;0.409;0.154;0.135;0.288;0.964;0.939;0.964;0.137;0.041	B;B;B;B;B;P;P;P;B;B	0.54346	0.091;0.091;0.148;0.091;0.091;0.749;0.681;0.749;0.091;0.023	T	0.10268	-1.0637	9	.	.	.	-1.3853	11.3673	0.49679	0.191:0.0:0.809:0.0	.	778;786;810;811;628;1108;1132;1148;241;212	Q9HCH5-14;Q9HCH5-6;Q9HCH5;Q9HCH5-13;Q9HCH5-15;Q9HCH5-11;Q9HCH5-7;Q9HCH5-8;Q9HCH5-9;Q9HCH5-4	.;.;SYTL2_HUMAN;.;.;.;.;.;.;.	R	786;1656;1148;811;252;1132;252;241;527;810;212;778;786	ENSP00000374610:S786R;ENSP00000352065:S1656R;ENSP00000346576:S1148R;ENSP00000318803:S811R;ENSP00000432996:S252R;ENSP00000432694:S1132R;ENSP00000435855:S252R;ENSP00000374608:S241R;ENSP00000435009:S527R;ENSP00000431701:S810R;ENSP00000432144:S212R;ENSP00000434010:S778R;ENSP00000435238:S786R	.	S	-	3	2	SYTL2	85086693	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.506000	0.45433	1.497000	0.48584	-0.177000	0.13119	AGT		0.393	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927		C	85409045	A	C	85409045	3	2	764	1	0	0	0	0	1	0	0	0	15488	272	10	5	386	5	SYTL2	11	85409045	Missense_Mutation	SNP	A	TCGA-MH-A561-01A-11D-A26P-10	22731535	85409045	49597471	67	45088											
NCAPD3	23310	hgsc.bcm.edu	37	11	134063948	134063948	+	Missense_Mutation	SNP	C	C	T			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr11:134063948C>T	ENST00000534548.2	-	15	1851	c.1787G>A	c.(1786-1788)cGg>cAg	p.R596Q		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	596					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)		GGCCTGCTTCCGGACAGACAC	0.443																																																0													70	67	68					11																	134063948		2201	4297	6498	SO:0001583	missense	23310			AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.1787G>A	chr11.hg19:g.134063948C>T	ENSP00000433681:p.Arg596Gln		A6NFS2|Q4KMQ9	Missense_Mutation	SNP	ENST00000534548.2	hg19	CCDS31723.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.777630	0.90195	.	.	ENSG00000151503	ENST00000534548	T	0.75938	-0.98	5.55	5.55	0.83447	Armadillo-like helical (1);Armadillo-type fold (1);	0.110622	0.64402	D	0.000010	D	0.87795	0.6267	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	D	0.88588	0.3141	10	0.72032	D	0.01	-26.9521	19.8686	0.96842	0.0:1.0:0.0:0.0	.	596	P42695	CNDD3_HUMAN	Q	596	ENSP00000433681:R596Q	ENSP00000431612:R596Q	R	-	2	0	NCAPD3	133569158	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.278000	0.51662	2.768000	0.95171	0.655000	0.94253	CGG		0.443	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		T	134063948	C	T	134063948	3	4	764	1	0	0	0	0	1	0	0	0	10208	652	23	1	2793	1	NCAPD3	11	134063948	Missense_Mutation	SNP	C	TCGA-MH-A561-01A-11D-A26P-10	48654903	134063948	942568	68	45089											
YARS2	51067	hgsc.bcm.edu	37	12	32908454	32908454	+	Frame_Shift_Del	DEL	G	G	-			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr12:32908454delG	ENST00000324868.8	-	1	382	c.355delC	c.(355-357)ctgfs	p.L119fs		NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	119					gene expression (GO:0010467)|mitochondrial tyrosyl-tRNA aminoacylation (GO:0070184)|translation (GO:0006412)|tRNA aminoacylation (GO:0043039)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)|tyrosine binding (GO:0072545)|tyrosine-tRNA ligase activity (GO:0004831)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	GGGTCTCCCAGGCGCGCCGTG	0.682											OREG0021729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													14	16	16					12																	32908454		2196	4290	6486	SO:0001589	frameshift_variant	51067			AF132939	CCDS31770.1	12p11.21	2014-03-19	2007-02-23		ENSG00000139131	ENSG00000139131	6.1.1.1	"Aminoacyl tRNA synthetases / Class I"	24249	protein-coding gene	gene with protein product	"tyrosine tRNA ligase 2, mitochondrial"	610957				15779907, 15840810	Standard	NM_001040436		Approved	FLJ13995, CGI-04, mt-TyrRS	uc001rli.3	Q9Y2Z4	OTTHUMG00000169454	ENST00000324868.8:c.355delC	chr12.hg19:g.32908454delG	ENSP00000320658:p.Leu119fs	836	D3DUW8|Q9H817	Frame_Shift_Del	DEL	ENST00000324868.8	hg19	CCDS31770.1																																																																																				0.682	YARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404153.1	NM_015936		-	32908454	G	-	32908454	7	5	764	1	0	1	0	1	0	0	0	0	17473	991	35	0	1098	0	YARS2	12	32908454	Frame_Shift_Del	DEL	G	TCGA-MH-A561-01A-11D-A26P-10		32908454	100943441	69	45090											
GALNT6	11226	hgsc.bcm.edu	37	12	51758021	51758021	+	Silent	SNP	G	G	C			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr12:51758021G>C	ENST00000543196.2	-	5	1138	c.933C>G	c.(931-933)ccC>ccG	p.P311P	GALNT6_ENST00000356317.3_Silent_p.P311P			Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	311					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						CCCTCTGGACGGGCTTGGCGA	0.577																																																0													97	90	92					12																	51758021		2203	4300	6503	SO:0001819	synonymous_variant	11226			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.933C>G	chr12.hg19:g.51758021G>C			Q8IYH4|Q9H6G2|Q9UIV5	Silent	SNP	ENST00000543196.2	hg19	CCDS8813.1																																																																																				0.577	GALNT6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469735.1	NM_007210		C	51758021	G	C	51758021	2	2	764	1	0	0	0	0	0	0	0	1	6219	1103	39	4		4	GALNT6	12	51758021	Silent	SNP	G	TCGA-MH-A561-01A-11D-A26P-10	18849567	51758021	82093874	70	45091											
GCN1L1	10985	hgsc.bcm.edu	37	12	120569801	120569801	+	Missense_Mutation	SNP	C	C	T			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr12:120569801C>T	ENST00000300648.6	-	54	7355	c.7343G>A	c.(7342-7344)gGg>gAg	p.G2448E		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2448					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)					CCCTAGGCACCCGGCTGAGGA	0.567																																																0													58	60	60					12																	120569801		2016	4171	6187	SO:0001583	missense	10985			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.7343G>A	chr12.hg19:g.120569801C>T	ENSP00000300648:p.Gly2448Glu		A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	hg19	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.379586	0.82682	.	.	ENSG00000089154	ENST00000300648	T	0.61040	0.14	4.19	4.19	0.49359	Armadillo-like helical (1);Armadillo-type fold (1);	0.124142	0.53938	D	0.000052	T	0.75184	0.3815	M	0.77103	2.36	0.80722	D	1	D	0.71674	0.998	D	0.70935	0.971	T	0.76462	-0.2950	10	0.39692	T	0.17	-19.3318	17.0673	0.86562	0.0:1.0:0.0:0.0	.	2448	Q92616	GCN1L_HUMAN	E	2448	ENSP00000300648:G2448E	ENSP00000300648:G2448E	G	-	2	0	GCN1L1	119054184	1.000000	0.71417	0.969000	0.41365	0.975000	0.68041	6.918000	0.75788	2.330000	0.79161	0.655000	0.94253	GGG		0.567	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			T	120569801	C	T	120569801	3	4	764	1	0	0	0	0	1	0	0	0	6301	623	22	2	692	2	GCN1L1	12	120569801	Missense_Mutation	SNP	C	TCGA-MH-A561-01A-11D-A26P-10	68811780	120569801	13282094	71	45092											
ATP11A	23250	hgsc.bcm.edu	37	13	113526110	113526110	+	Missense_Mutation	SNP	T	T	C			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr13:113526110T>C	ENST00000487903.1	+	26	3141	c.3053T>C	c.(3052-3054)cTa>cCa	p.L1018P	ATP11A_ENST00000283558.8_Missense_Mutation_p.L1018P|ATP11A_ENST00000375630.2_Missense_Mutation_p.L1018P|ATP11A_ENST00000375645.3_Missense_Mutation_p.L1018P			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	1018					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	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(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	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;0.134)|all_epithelial(44;0.141)				ACAGTTACACTAAAGGTAAGT	0.483																																																0													159	151	154					13																	113526110		2203	4300	6503	SO:0001583	missense	23250			AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"ATPases / P-type"	13552	protein-coding gene	gene with protein product	"potential phospholipid-transporting ATPase IH", "phospholipid-translocating ATPase"	605868	"ATPase, Class VI, type 11A"			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.3053T>C	chr13.hg19:g.113526110T>C	ENSP00000420387:p.Leu1018Pro		Q5VXT2	Missense_Mutation	SNP	ENST00000487903.1	hg19	CCDS32011.1	.	.	.	.	.	.	.	.	.	.	T	16.06	3.016751	0.54468	.	.	ENSG00000068650	ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558;ENST00000419631	T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71	4.15	4.15	0.48705	.	0.410679	0.24585	N	0.037266	T	0.75191	0.3816	H	0.96175	3.78	0.80722	D	1	D;D	0.67145	0.996;0.978	P;P	0.62014	0.897;0.841	D	0.83543	0.0097	10	0.66056	D	0.02	.	13.4786	0.61322	0.0:0.0:0.0:1.0	.	1018;1018	E9PEJ6;P98196	.;AT11A_HUMAN	P	1018;1018;1018;1018;10	ENSP00000420387:L1018P;ENSP00000364781:L1018P;ENSP00000364796:L1018P;ENSP00000283558:L1018P;ENSP00000410824:L10P	ENSP00000283558:L1018P	L	+	2	0	ATP11A	112574111	0.962000	0.33011	0.392000	0.26245	0.244000	0.25665	7.271000	0.78506	1.628000	0.50416	0.379000	0.24179	CTA		0.483	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205		C	113526110	T	C	113526110	3	2	764	1	0	0	0	0	1	0	0	0	1119	1522	53	3	3155	3	ATP11A	13	113526110	Missense_Mutation	SNP	T	TCGA-MH-A561-01A-11D-A26P-10		113526110	1643768	72	45093											
GPHN	10243	hgsc.bcm.edu	37	14	67291218	67291218	+	Missense_Mutation	SNP	A	A	C			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr14:67291218A>C	ENST00000315266.5	+	4	1349	c.228A>C	c.(226-228)gaA>gaC	p.E76D	GPHN_ENST00000543237.1_Missense_Mutation_p.E76D|GPHN_ENST00000478722.1_Missense_Mutation_p.E76D|GPHN_ENST00000305960.9_Intron|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000459628.1_Intron	NM_001024218.1	NP_001019389.1	Q9NQX3	GEPH_HUMAN	gephyrin	76	MPT Mo-transferase.				establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycine receptor clustering (GO:0072579)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|molybdopterin adenylyltransferase activity (GO:0061598)|molybdopterin molybdotransferase activity (GO:0061599)|transferase activity (GO:0016740)			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		GGTGTGATGAAAAGGAACTTA	0.393			T	MLL	AL																																		Dom	yes		14	14q24	10243	gephyrin (GPH)		L	0													97	92	94					14																	67291218		2203	4300	6503	SO:0001583	missense	10243			AB037806	CCDS9777.1, CCDS32103.1	14q23.3	2008-04-22			ENSG00000171723	ENSG00000171723			15465	protein-coding gene	gene with protein product		603930				1319186, 10325225, 18403029	Standard	XM_005267250		Approved	KIAA1385	uc001xix.3	Q9NQX3	OTTHUMG00000029785	ENST00000315266.5:c.228A>C	chr14.hg19:g.67291218A>C	ENSP00000312771:p.Glu76Asp		Q9H4E9|Q9P2G2	Missense_Mutation	SNP	ENST00000315266.5	hg19	CCDS32103.1	.	.	.	.	.	.	.	.	.	.	A	11.85	1.761655	0.31228	.	.	ENSG00000171723	ENST00000315266;ENST00000478722;ENST00000543237;ENST00000555456	T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13	5.48	4.33	0.51752	Molybdenum cofactor synthesis (1);Molybdopterin binding (4);	0.046743	0.85682	D	0.000000	T	0.56572	0.1994	N	0.10664	0.02	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.46721	-0.9171	10	0.16896	T	0.51	-9.6865	11.3654	0.49668	0.9283:0.0:0.0717:0.0	.	76;76;76	F5H039;Q9NQX3;Q9NQX3-2	.;GEPH_HUMAN;.	D	76;76;76;9	ENSP00000312771:E76D;ENSP00000417901:E76D;ENSP00000438404:E76D;ENSP00000450706:E9D	ENSP00000312771:E76D	E	+	3	2	GPHN	66360971	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	1.444000	0.35068	0.910000	0.36722	0.254000	0.18369	GAA		0.393	GPHN-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000074299.2	NM_020806		C	67291218	A	C	67291218	3	2	764	1	0	0	0	0	1	0	0	0	6612	11	1	5	242	5	GPHN	14	67291218	Missense_Mutation	SNP	A	TCGA-MH-A561-01A-11D-A26P-10		67291218	40058322	73	45094											
PPIP5K1	9677	hgsc.bcm.edu	37	15	43863609	43863609	+	Splice_Site	DEL	C	C	-			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr15:43863609delC	ENST00000396923.3	-	24	3089		c.e24+1		PPIP5K1_ENST00000432870.3_Splice_Site|PPIP5K1_ENST00000348806.6_Splice_Site|PPIP5K1_ENST00000360135.4_Splice_Site|PPIP5K1_ENST00000360301.4_Splice_Site|PPIP5K1_ENST00000381885.1_Splice_Site|PPIP5K1_ENST00000381879.4_Splice_Site|PPIP5K1_ENST00000420765.1_Splice_Site|PPIP5K1_ENST00000334933.4_Splice_Site			Q6PFW1	VIP1_HUMAN	diphosphoinositol pentakisphosphate kinase 1						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						CCTCTCATTACCTCCATGGAA	0.557																																																0																																										SO:0001630	splice_region_variant	9677			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.2967+1G>-	chr15.hg19:g.43863609delC			O15082|Q5HYF8|Q7Z3A7|Q86TE7|Q86UV3|Q86UV4|Q86XW8|Q8IZN0	Splice_Site	DEL	ENST00000396923.3	hg19	CCDS45252.1																																																																																				0.557	PPIP5K1-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132907.1	NM_014659	Intron	-	43863609	C	-	43863609	8	5	764	1	0	1	0	1	0	0	1	0	12337	521	18	0	1485	0	PPIP5K1	15	43863609	Splice_Site	DEL	C	TCGA-MH-A561-01A-11D-A26P-10		43863609	58667783	74	45095											
VPS13C	54832	hgsc.bcm.edu	37	15	62211634	62211634	+	Missense_Mutation	SNP	T	T	C			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr15:62211634T>C	ENST00000261517.5	-	58	7565	c.7492A>G	c.(7492-7494)Aca>Gca	p.T2498A	VPS13C_ENST00000395898.3_Missense_Mutation_p.T2455A|VPS13C_ENST00000395896.4_Missense_Mutation_p.T2498A|VPS13C_ENST00000249837.3_Missense_Mutation_p.T2455A	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						GCAACTTCTGTATATCCATGA	0.378																																																0													127	126	126					15																	62211634		2203	4299	6502	SO:0001583	missense	54832			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"vacuolar protein sorting 13C (yeast)"				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.7492A>G	chr15.hg19:g.62211634T>C	ENSP00000261517:p.Thr2498Ala			Missense_Mutation	SNP	ENST00000261517.5	hg19	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	T	16.21	3.059562	0.55325	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.44881	0.92;0.91;1.09	5.08	5.08	0.68730	.	0.343050	0.31071	N	0.008307	T	0.38585	0.1046	M	0.69823	2.125	0.36345	D	0.85969	B;B;B;P	0.35745	0.257;0.171;0.257;0.518	B;B;B;B	0.30316	0.089;0.089;0.089;0.114	T	0.49753	-0.8906	10	0.30078	T	0.28	.	11.1995	0.48733	0.0:0.0745:0.0:0.9255	.	2455;2498;2455;2498	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	A	2455;2498;2498;2498	ENSP00000249837:T2455A;ENSP00000261517:T2498A;ENSP00000379233:T2498A	ENSP00000249837:T2455A	T	-	1	0	VPS13C	59998926	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	2.093000	0.41710	2.023000	0.59567	0.533000	0.62120	ACA		0.378	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		C	62211634	T	C	62211634	3	2	764	1	0	0	0	0	1	0	0	0	17196	1638	57	3	3909	3	VPS13C	15	62211634	Missense_Mutation	SNP	T	TCGA-MH-A561-01A-11D-A26P-10	18348025	62211634	40319758	75	45096											
RPL3L	6123	hgsc.bcm.edu	37	16	1995508	1995508	+	Missense_Mutation	SNP	C	C	A			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr16:1995508C>A	ENST00000268661.7	-	9	1253	c.1159G>T	c.(1159-1161)Gcc>Tcc	p.A387S	MSRB1_ENST00000564908.1_5'Flank|MSRB1_ENST00000361871.3_5'Flank|MSRB1_ENST00000399753.2_5'Flank	NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like	387					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)|membrane (GO:0016020)|ribosome (GO:0005840)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						ACCATGAAGGCCCTCTTCTCT	0.597																																																0													55	46	50					16																	1995508		2199	4300	6499	SO:0001583	missense	6123			U65581	CCDS10450.1	16p13.3	2008-02-05			ENSG00000140986	ENSG00000140986		"L ribosomal proteins"	10351	protein-coding gene	gene with protein product						8921388	Standard	NM_005061		Approved		uc002cnh.3	Q92901	OTTHUMG00000128685	ENST00000268661.7:c.1159G>T	chr16.hg19:g.1995508C>A	ENSP00000268661:p.Ala387Ser			Missense_Mutation	SNP	ENST00000268661.7	hg19	CCDS10450.1	.	.	.	.	.	.	.	.	.	.	C	10.72	1.430672	0.25726	.	.	ENSG00000140986	ENST00000268661	T	0.32753	1.44	3.92	3.92	0.45320	.	0.259903	0.37178	N	0.002207	T	0.39384	0.1076	M	0.69248	2.105	0.50632	D	0.999888	P	0.44139	0.827	P	0.45856	0.495	T	0.40553	-0.9557	10	0.46703	T	0.11	-1.9802	15.4739	0.75461	0.0:1.0:0.0:0.0	.	387	Q92901	RL3L_HUMAN	S	387	ENSP00000268661:A387S	ENSP00000268661:A387S	A	-	1	0	RPL3L	1935509	1.000000	0.71417	0.999000	0.59377	0.185000	0.23345	4.700000	0.61803	2.185000	0.69588	0.563000	0.77884	GCC		0.597	RPL3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250582.2	NM_005061		A	1995508	C	A	1995508	3	1	764	1	0	0	0	0	1	0	0	0	13600	739	26	4	72	4	RPL3L	16	1995508	Missense_Mutation	SNP	C	TCGA-MH-A561-01A-11D-A26P-10		1995508	88359245	76	45097											
SCNN1B	6338	hgsc.bcm.edu	37	16	23360139	23360139	+	Silent	SNP	C	C	G			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr16:23360139C>G	ENST00000343070.2	+	2	395	c.219C>G	c.(217-219)acC>acG	p.T73T	SCNN1B_ENST00000568085.1_Silent_p.T73T|SCNN1B_ENST00000307331.5_Silent_p.T118T|SCNN1B_ENST00000569789.1_3'UTR|SCNN1B_ENST00000568923.1_Silent_p.T73T	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	73					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)	TCATCAGGACCTACTTGAGCT	0.587																																																0													84	69	74					16																	23360139		2197	4300	6497	SO:0001819	synonymous_variant	6338			X87159	CCDS10609.1	16p12.2-p12.1	2012-02-28	2012-02-28		ENSG00000168447	ENSG00000168447		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10600	protein-coding gene	gene with protein product	"Liddle syndrome"	600760	"sodium channel, nonvoltage-gated 1, beta", "sodium channel, non-voltage-gated 1, beta"				Standard	NM_000336		Approved	ENaCbeta	uc002dln.3	P51168	OTTHUMG00000131608	ENST00000343070.2:c.219C>G	chr16.hg19:g.23360139C>G			C5HTZ2|O60891|Q96KG2|Q9UJ32|Q9UMU5	Silent	SNP	ENST00000343070.2	hg19	CCDS10609.1																																																																																				0.587	SCNN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254495.2			G	23360139	C	G	23360139	2	3	764	1	0	0	0	0	0	0	0	1	13934	668	24	4		4	SCNN1B	16	23360139	Silent	SNP	C	TCGA-MH-A561-01A-11D-A26P-10	21364631	23360139	66994614	77	45098											
MYLK3	91807	hgsc.bcm.edu	37	16	46781755	46781755	+	Missense_Mutation	SNP	C	C	A			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr16:46781755C>A	ENST00000394809.4	-	1	466	c.351G>T	c.(349-351)atG>atT	p.M117I	MYLK3_ENST00000536476.1_Intron	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	117					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)				CCGCAGCCACCATCCTGAAGA	0.657																																																0													45	40	42					16																	46781755		2203	4300	6503	SO:0001583	missense	91807			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.351G>T	chr16.hg19:g.46781755C>A	ENSP00000378288:p.Met117Ile		B5BUL9|B7Z5U8|Q32MK1|Q96DV1	Missense_Mutation	SNP	ENST00000394809.4	hg19	CCDS10723.2	.	.	.	.	.	.	.	.	.	.	C	14.42	2.530435	0.45073	.	.	ENSG00000140795	ENST00000394809	T	0.69435	-0.4	4.87	4.87	0.63330	.	0.000000	0.43260	D	0.000583	T	0.65101	0.2659	M	0.67953	2.075	0.80722	D	1	P	0.38922	0.651	B	0.33521	0.165	T	0.69942	-0.5008	10	0.46703	T	0.11	.	18.3666	0.90392	0.0:1.0:0.0:0.0	.	117	Q32MK0	MYLK3_HUMAN	I	117	ENSP00000378288:M117I	ENSP00000378288:M117I	M	-	3	0	MYLK3	45339256	1.000000	0.71417	1.000000	0.80357	0.273000	0.26683	2.195000	0.42677	2.394000	0.81467	0.491000	0.48974	ATG		0.657	MYLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255743.2	NM_182493		A	46781755	C	A	46781755	3	1	764	1	0	0	0	0	1	0	0	0	10060	594	21	4	2160	4	MYLK3	16	46781755	Missense_Mutation	SNP	C	TCGA-MH-A561-01A-11D-A26P-10	23421616	46781755	43572998	78	45099											
EDC4	23644	hgsc.bcm.edu	37	16	67910858	67910858	+	Missense_Mutation	SNP	T	T	G			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr16:67910858T>G	ENST00000358933.5	+	4	673	c.434T>G	c.(433-435)tTg>tGg	p.L145W	EDC4_ENST00000574770.1_3'UTR|AC040162.1_ENST00000408599.1_RNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	145					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)		AACTCCTTCTTGGCCTATGCC	0.507																																																0													136	130	132					16																	67910858		2198	4300	6498	SO:0001583	missense	23644			U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.434T>G	chr16.hg19:g.67910858T>G	ENSP00000351811:p.Leu145Trp		A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Missense_Mutation	SNP	ENST00000358933.5	hg19	CCDS10849.1	.	.	.	.	.	.	.	.	.	.	T	28.6	4.935710	0.92458	.	.	ENSG00000038358	ENST00000358933;ENST00000536072	T	0.42131	0.98	5.83	5.83	0.93111	WD40 repeat-like-containing domain (1);	0.081121	0.51477	D	0.000086	T	0.62901	0.2466	M	0.69823	2.125	0.58432	D	0.999996	D;D	0.71674	0.998;0.997	D;P	0.65140	0.932;0.903	T	0.66740	-0.5847	10	0.87932	D	0	-7.7554	15.8624	0.79035	0.0:0.0:0.0:1.0	.	77;145	B7Z7V8;Q6P2E9	.;EDC4_HUMAN	W	145;77	ENSP00000351811:L145W	ENSP00000351811:L145W	L	+	2	0	EDC4	66468359	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.997000	0.88414	2.235000	0.73313	0.533000	0.62120	TTG		0.507	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329		G	67910858	T	G	67910858	3	3	764	1	0	0	0	0	1	0	0	0	4910	1821	63	5	448	5	EDC4	16	67910858	Missense_Mutation	SNP	T	TCGA-MH-A561-01A-11D-A26P-10	21129103	67910858	22443895	79	45100											
MYO15A	51168	hgsc.bcm.edu	37	17	18057182	18057182	+	Missense_Mutation	SNP	C	C	G			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr17:18057182C>G	ENST00000205890.5	+	43	8398	c.8060C>G	c.(8059-8061)gCc>gGc	p.A2687G	MYO15A_ENST00000585180.1_5'Flank|MYO15A_ENST00000418233.3_5'UTR	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2687	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)					TATCAGGACGCCCCCTGGAAG	0.657																																																0													45	46	46					17																	18057182		1888	4114	6002	SO:0001583	missense	51168			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.8060C>G	chr17.hg19:g.18057182C>G	ENSP00000205890:p.Ala2687Gly		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	hg19	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	C	18.05	3.536404	0.65085	.	.	ENSG00000091536	ENST00000205890	D	0.88586	-2.4	5.07	2.79	0.32731	.	.	.	.	.	T	0.82263	0.4999	M	0.64997	1.995	0.80722	D	1	P	0.35433	0.501	B	0.27608	0.081	T	0.80400	-0.1398	9	0.87932	D	0	.	2.5033	0.04638	0.222:0.4596:0.0:0.3183	.	2687	Q9UKN7	MYO15_HUMAN	G	2687	ENSP00000205890:A2687G	ENSP00000205890:A2687G	A	+	2	0	MYO15A	17997907	1.000000	0.71417	0.800000	0.32199	0.904000	0.53231	2.694000	0.47035	1.107000	0.41642	0.563000	0.77884	GCC		0.657	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		G	18057182	C	G	18057182	3	3	764	1	0	0	0	0	1	0	0	0	10065	739	26	4	8222	4	MYO15A	17	18057182	Missense_Mutation	SNP	C	TCGA-MH-A561-01A-11D-A26P-10		18057182	63138028	80	45101											
ITGA2B	3674	hgsc.bcm.edu	37	17	42449792	42449792	+	Splice_Site	SNP	C	C	T			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr17:42449792C>T	ENST00000262407.5	-	30	3092		c.e30-1		ITGA2B_ENST00000353281.4_Splice_Site	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)						axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	extracellular matrix binding (GO:0050840)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Abciximab(DB00054)|Tirofiban(DB00775)	AGAAGCCGACCTGGGGGTACA	0.577																																																0													58	44	49					17																	42449792		2203	4300	6503	SO:0001630	splice_region_variant	3674				CCDS32665.1	17q21.32	2014-09-17	2006-02-22			ENSG00000005961		"CD molecules", "Integrins"	6138	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 93"	607759	"integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)"	GP2B			Standard	NM_000419		Approved	CD41B, CD41, PPP1R93	uc002igt.1	P08514		ENST00000262407.5:c.3061-1G>A	chr17.hg19:g.42449792C>T			B2RCY8|O95366|Q14443|Q17R67	Splice_Site	SNP	ENST00000262407.5	hg19	CCDS32665.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.306424	0.60305	.	.	ENSG00000005961	ENST00000262407;ENST00000353281	.	.	.	4.54	4.54	0.55810	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8074	0.69968	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ITGA2B	39805318	0.993000	0.37304	0.275000	0.24674	0.303000	0.27691	4.088000	0.57678	2.357000	0.79964	0.561000	0.74099	.		0.577	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439823.1		Intron	T	42449792	C	T	42449792	5	4	764	1	0	0	0	0	0	0	1	0	7878	695	24	2	63	2	ITGA2B	17	42449792	Splice_Site	SNP	C	TCGA-MH-A561-01A-11D-A26P-10	24392610	42449792	38745418	81	45102											
C17orf104	284071	hgsc.bcm.edu	37	17	42744196	42744196	+	Missense_Mutation	SNP	A	A	T			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr17:42744196A>T	ENST00000409122.2	+	5	1059	c.917A>T	c.(916-918)cAa>cTa	p.Q306L	C17orf104_ENST00000359945.3_Missense_Mutation_p.Q306L|C17orf104_ENST00000409464.1_Missense_Mutation_p.Q140L	NM_001145080.2	NP_001138552.2	A2RUB1	CQ104_HUMAN	chromosome 17 open reading frame 104	306										autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						CCACTACAGCAAAAAAGGGCA	0.348																																																0													27	28	28					17																	42744196		2202	4298	6500	SO:0001583	missense	284071				CCDS45703.1, CCDS45703.2	17q21.31	2009-09-08			ENSG00000180336	ENSG00000180336			26670	protein-coding gene	gene with protein product							Standard	NM_001145080		Approved	FLJ35848	uc002iha.3	A2RUB1	OTTHUMG00000153039	ENST00000409122.2:c.917A>T	chr17.hg19:g.42744196A>T	ENSP00000386452:p.Gln306Leu		B4DXJ2|B5MD93|B9EGQ6|C4AM97|Q4G0Y1|Q8IVZ7|Q8NA45	Missense_Mutation	SNP	ENST00000409122.2	hg19	CCDS45703.2	.	.	.	.	.	.	.	.	.	.	A	1.742	-0.491410	0.04322	.	.	ENSG00000180336	ENST00000359945;ENST00000409122;ENST00000432494;ENST00000409464	T;T;T;T	0.35421	1.31;1.31;1.37;1.31	5.45	4.38	0.52667	.	0.063895	0.64402	D	0.000008	T	0.25975	0.0633	N	0.24115	0.695	0.24874	N	0.992265	B;B;B	0.31548	0.328;0.161;0.161	B;B;B	0.35413	0.202;0.202;0.202	T	0.19257	-1.0311	10	0.59425	D	0.04	-14.3041	8.5529	0.33462	0.8008:0.1303:0.0689:0.0	.	306;306;140	A2RUB1-5;A2RUB1;A2RUB1-1	.;CQ104_HUMAN;.	L	306;306;140;140	ENSP00000353028:Q306L;ENSP00000386452:Q306L;ENSP00000399809:Q140L;ENSP00000386586:Q140L	ENSP00000353028:Q306L	Q	+	2	0	C17orf104	40099722	1.000000	0.71417	0.998000	0.56505	0.014000	0.08584	4.646000	0.61411	1.017000	0.39495	-0.388000	0.06559	CAA		0.348	C17orf104-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329171.2	NM_001145080		T	42744196	A	T	42744196	3	4	764	1	0	0	0	0	1	0	0	0	1853	130	5	5	935	5	C17orf104	17	42744196	Missense_Mutation	SNP	A	TCGA-MH-A561-01A-11D-A26P-10	294404	42744196	38451014	82	45103											
SPAG9	9043	hgsc.bcm.edu	37	17	49067112	49067112	+	Silent	SNP	G	G	T			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr17:49067112G>T	ENST00000262013.7	-	21	2947	c.2739C>A	c.(2737-2739)gtC>gtA	p.V913V	SPAG9_ENST00000505279.1_Silent_p.V903V|SPAG9_ENST00000357122.4_Silent_p.V899V|SPAG9_ENST00000510283.1_Silent_p.V756V	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	913					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)			GCTCTGTGTAGACGCCAGTTT	0.473																																																0													165	133	144					17																	49067112		2203	4300	6503	SO:0001819	synonymous_variant	9043			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.2739C>A	chr17.hg19:g.49067112G>T			A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Silent	SNP	ENST00000262013.7	hg19	CCDS45740.1	.	.	.	.	.	.	.	.	.	.	G	9.197	1.027489	0.19512	.	.	ENSG00000008294	ENST00000513906	.	.	.	5.77	0.0229	0.14135	.	.	.	.	.	T	0.41627	0.1167	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24548	-1.0157	4	.	.	.	-12.8707	1.4604	0.02394	0.2848:0.2293:0.3304:0.1555	.	.	.	.	Y	157	.	.	S	-	2	0	SPAG9	46422111	0.969000	0.33509	0.999000	0.59377	0.960000	0.62799	0.071000	0.14594	0.094000	0.17404	-1.467000	0.01014	TCT		0.473	SPAG9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368543.2	NM_003971		T	49067112	G	T	49067112	2	4	764	1	0	0	0	0	0	0	0	1	14991	929	33	4		4	SPAG9	17	49067112	Silent	SNP	G	TCGA-MH-A561-01A-11D-A26P-10	6322916	49067112	32128098	83	45104											
C17orf95	124512	hgsc.bcm.edu	37	17	74729098	74729098	+	Silent	SNP	C	C	A			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr17:74729098C>A	ENST00000341249.6	+	3	455	c.123C>A	c.(121-123)gcC>gcA	p.A41A	METTL23_ENST00000588822.1_5'UTR|MFSD11_ENST00000586622.1_5'Flank|METTL23_ENST00000590964.1_5'UTR|METTL23_ENST00000588302.1_5'UTR|RP11-318A15.7_ENST00000587459.1_Silent_p.A13A|METTL23_ENST00000586752.1_5'UTR|METTL23_ENST00000586200.1_Intron|METTL23_ENST00000588783.1_Silent_p.A41A|METTL23_ENST00000591571.1_5'UTR|METTL23_ENST00000586738.1_Silent_p.A41A|METTL23_ENST00000589977.1_Silent_p.A41A	NM_001206984.1	NP_001193913.1	Q86XA0	MET23_HUMAN	methyltransferase like 23	41						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	methyltransferase activity (GO:0008168)			large_intestine(2)|lung(1)	3						TTTTGGCTGCCAAATGTGGTG	0.438																																																0													26	24	25					17																	74729098		1915	4132	6047	SO:0001819	synonymous_variant	124512				CCDS45787.1, CCDS59298.1	17q25.2	2011-03-03	2011-03-03	2011-03-03	ENSG00000181038	ENSG00000181038			26988	protein-coding gene	gene with protein product		615262	"chromosome 17 open reading frame 95"	C17orf95		12477932	Standard	NM_001080510		Approved	LOC124512	uc021udl.1	Q86XA0		ENST00000341249.6:c.123C>A	chr17.hg19:g.74729098C>A			H9ZYJ0|K7EK32	Silent	SNP	ENST00000341249.6	hg19	CCDS45787.1																																																																																				0.438	METTL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451002.1	NM_001080510		A	74729098	C	A	74729098	2	1	764	1	0	0	0	0	0	0	0	1	1894	581	21	4		4	C17orf95	17	74729098	Silent	SNP	C	TCGA-MH-A561-01A-11D-A26P-10	25661986	74729098	6466112	84	45105											
AATK	9625	hgsc.bcm.edu	37	17	79095314	79095314	+	Missense_Mutation	SNP	G	G	T			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr17:79095314G>T	ENST00000326724.4	-	11	2446	c.2422C>A	c.(2422-2424)Cca>Aca	p.P808T	AATK_ENST00000417379.1_Missense_Mutation_p.P705T	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	808	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)			GAGGGAAGTGGGGCTCCCTCC	0.701																																																0													16	21	19					17																	79095314		2062	4182	6244	SO:0001583	missense	9625			AB014541	CCDS45807.1, CCDS58607.1	17q25.3	2014-06-12			ENSG00000181409	ENSG00000181409			21	protein-coding gene	gene with protein product	"lemur tyrosine kinase 1", "protein phosphatase 1, regulatory subunit 77"	605276				9734811, 10083745	Standard	NM_001080395		Approved	AATYK, KIAA0641, LMTK1, LMR1, AATYK1, PPP1R77	uc010dia.3	Q6ZMQ8	OTTHUMG00000132717	ENST00000326724.4:c.2422C>A	chr17.hg19:g.79095314G>T	ENSP00000324196:p.Pro808Thr		O75136|Q6ZN31|Q86X28	Missense_Mutation	SNP	ENST00000326724.4	hg19	CCDS45807.1	.	.	.	.	.	.	.	.	.	.	G	7.050	0.564179	0.13498	.	.	ENSG00000181409	ENST00000326724;ENST00000374792	T;T	0.78246	-1.06;-1.16	4.36	2.21	0.28008	.	0.938651	0.08819	U	0.889000	T	0.66366	0.2782	L	0.43152	1.355	0.19575	N	0.999966	B	0.15141	0.012	B	0.09377	0.004	T	0.50276	-0.8847	10	0.22706	T	0.39	.	5.0003	0.14261	0.1085:0.0:0.552:0.3395	.	808	Q6ZMQ8	LMTK1_HUMAN	T	808;772	ENSP00000324196:P808T;ENSP00000363924:P772T	ENSP00000324196:P808T	P	-	1	0	AATK	76709909	0.000000	0.05858	0.647000	0.29507	0.154000	0.21943	0.726000	0.25984	0.801000	0.34066	0.561000	0.74099	CCA		0.701	AATK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256055.1	NM_004920		T	79095314	G	T	79095314	3	4	764	1	0	0	0	0	1	0	0	0	26	1232	43	4	1718	4	AATK	17	79095314	Missense_Mutation	SNP	G	TCGA-MH-A561-01A-11D-A26P-10	4366216	79095314	2099896	85	45106											
MALT1	10892	hgsc.bcm.edu	37	18	56400802	56400802	+	Missense_Mutation	SNP	A	A	G			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr18:56400802A>G	ENST00000348428.3	+	11	1654	c.1396A>G	c.(1396-1398)Aaa>Gaa	p.K466E	MALT1_ENST00000345724.3_Missense_Mutation_p.K455E|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	466	Caspase-like.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|B-1 B cell differentiation (GO:0001923)|defense response (GO:0006952)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|nuclear export (GO:0051168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|protein oligomerization (GO:0051259)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of T cell receptor signaling pathway (GO:0050856)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell proliferation (GO:0042098)|T cell receptor signaling pathway (GO:0050852)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)|protein self-association (GO:0043621)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						TATGTGTAGGAAAAGGTAAGT	0.313			T	BIRC3	MALT																																		Dom	yes		18	18q21	10892	mucosa associated lymphoid tissue lymphoma translocation gene 1		L	0													59	66	64					18																	56400802		2203	4299	6502	SO:0001583	missense	10892				CCDS11967.1, CCDS11968.1	18q21	2013-01-11			ENSG00000172175	ENSG00000172175		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6819	protein-coding gene	gene with protein product	"paracaspase"	604860		MLT		10339464, 10406266, 10523859	Standard	NM_006785		Approved		uc002lhm.1	Q9UDY8	OTTHUMG00000132761	ENST00000348428.3:c.1396A>G	chr18.hg19:g.56400802A>G	ENSP00000319279:p.Lys466Glu		Q9NTB7|Q9ULX4	Missense_Mutation	SNP	ENST00000348428.3	hg19	CCDS11967.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.599615	0.87055	.	.	ENSG00000172175	ENST00000348428;ENST00000345724	T;T	0.41400	1.0;1.0	5.52	5.52	0.82312	Peptidase C14, caspase catalytic (1);	0.000000	0.85682	D	0.000000	T	0.63390	0.2507	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.66767	-0.5840	10	0.72032	D	0.01	.	15.304	0.73979	1.0:0.0:0.0:0.0	.	455;466	Q9UDY8-2;Q9UDY8	.;MALT1_HUMAN	E	466;455	ENSP00000319279:K466E;ENSP00000304161:K455E	ENSP00000304161:K455E	K	+	1	0	MALT1	54551782	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.153000	0.77428	2.106000	0.64143	0.528000	0.53228	AAA		0.313	MALT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256132.2			G	56400802	A	G	56400802	3	3	764	1	0	0	0	0	1	0	0	0	9204	247	9	3	1438	3	MALT1	18	56400802	Missense_Mutation	SNP	A	TCGA-MH-A561-01A-11D-A26P-10		56400802	21676446	86	45107											
ZNF799	90576	hgsc.bcm.edu	37	19	12502161	12502161	+	Missense_Mutation	SNP	A	A	T	rs541416821		TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr19:12502161A>T	ENST00000430385.3	-	4	1251	c.1051T>A	c.(1051-1053)Tca>Aca	p.S351T	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000419318.1_Missense_Mutation_p.S319T	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	351					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.S351T(1)|p.S138T(1)		breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						CTTTTCAGTGAACTAGGACAA	0.413																																																2	Substitution - Missense(2)	kidney(2)											161	157	158					19																	12502161		2203	4300	6503	SO:0001583	missense	90576			BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"Zinc fingers, C2H2-type", "-"	28071	protein-coding gene	gene with protein product			"zinc finger protein 842"	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.1051T>A	chr19.hg19:g.12502161A>T	ENSP00000411084:p.Ser351Thr			Missense_Mutation	SNP	ENST00000430385.3	hg19	CCDS45989.1	.	.	.	.	.	.	.	.	.	.	A	11.22	1.574140	0.28092	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	T;T	0.07567	3.18;3.18	1.31	1.31	0.21738	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09949	0.0244	N	0.16478	0.41	0.09310	N	1	D	0.60575	0.988	P	0.60173	0.87	T	0.34378	-0.9831	9	0.30078	T	0.28	.	6.6913	0.23174	1.0:0.0:0.0:0.0	.	351	Q96GE5	ZN799_HUMAN	T	319;351	ENSP00000415278:S319T;ENSP00000411084:S351T	ENSP00000415278:S319T	S	-	1	0	ZNF799	12363161	0.000000	0.05858	0.005000	0.12908	0.140000	0.21249	0.679000	0.25291	0.846000	0.35142	0.352000	0.21897	TCA		0.413	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821		T	12502161	A	T	12502161	3	4	764	1	0	0	0	0	1	0	0	0	18171	246	9	5	884	5	ZNF799	19	12502161	Missense_Mutation	SNP	A	TCGA-MH-A561-01A-11D-A26P-10		12502161	46626822	87	45108											
SYDE1	85360	hgsc.bcm.edu	37	19	15220001	15220001	+	Missense_Mutation	SNP	A	A	T			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr19:15220001A>T	ENST00000342784.2	+	2	254	c.223A>T	c.(223-225)Agc>Tgc	p.S75C	SYDE1_ENST00000600252.1_5'UTR|SYDE1_ENST00000600440.1_Intron	NM_033025.4	NP_149014.3	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	75	Pro-rich.				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						CTACCTGCAAAGCCTGGAGCC	0.706																																																0													13	13	13					19																	15220001		2148	4200	6348	SO:0001583	missense	85360			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.223A>T	chr19.hg19:g.15220001A>T	ENSP00000341489:p.Ser75Cys		Q7L2I8|Q8N6J2|Q9H8K4	Missense_Mutation	SNP	ENST00000342784.2	hg19	CCDS12324.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.951011	0.73787	.	.	ENSG00000105137	ENST00000342784	T	0.13778	2.56	4.32	4.32	0.51571	.	0.000000	0.85682	D	0.000000	T	0.26484	0.0647	L	0.47716	1.5	0.27009	N	0.964736	D	0.76494	0.999	D	0.80764	0.994	T	0.02781	-1.1111	10	0.87932	D	0	.	8.0008	0.30295	0.7926:0.2074:0.0:0.0	.	75	Q6ZW31	SYDE1_HUMAN	C	75	ENSP00000341489:S75C	ENSP00000341489:S75C	S	+	1	0	SYDE1	15081001	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.770000	0.62309	1.598000	0.50083	0.533000	0.62120	AGC		0.706	SYDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465666.1	NM_033025		T	15220001	A	T	15220001	3	4	764	1	0	0	0	0	1	0	0	0	15440	72	3	5	229	5	SYDE1	19	15220001	Missense_Mutation	SNP	A	TCGA-MH-A561-01A-11D-A26P-10	2717840	15220001	43908982	88	45109											
PDCD5	9141	hgsc.bcm.edu	37	19	33077794	33077794	+	Frame_Shift_Del	DEL	A	A	-			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr19:33077794delA	ENST00000590247.2	+	5	483	c.289delA	c.(289-291)aaafs	p.K98fs	PDCD5_ENST00000379316.3_Intron|PDCD5_ENST00000592786.1_Stop_Codon_Del|PDCD5_ENST00000419343.3_3'UTR|PDCD5_ENST00000586035.1_Frame_Shift_Del_p.K60fs	NM_004708.3	NP_004699.1	O14737	PDCD5_HUMAN	programmed cell death 5	98					apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|large_intestine(2)|lung(1)|ovary(1)	5	Esophageal squamous(110;0.137)					AGAAATCCTTAAAAAAGTAAG	0.323																																																0													81	87	85					19																	33077794		2203	4300	6503	SO:0001589	frameshift_variant	9141			AF014955	CCDS12423.1	19q13.11	2012-10-15			ENSG00000105185	ENSG00000105185			8764	protein-coding gene	gene with protein product	"TFAR19 novel apoptosis-related", "TF1 cell apoptosis-related gene 19"	604583				9920759	Standard	NM_004708		Approved	TFAR19, MGC9294	uc002ntm.3	O14737	OTTHUMG00000180224	ENST00000590247.2:c.289delA	chr19.hg19:g.33077794delA	ENSP00000466214:p.Lys98fs		B4DE64|Q53YC9|Q6IB70	Frame_Shift_Del	DEL	ENST00000590247.2	hg19	CCDS12423.1																																																																																				0.323	PDCD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450320.2	NM_004708		-	33077794	A	-	33077794	7	5	764	1	0	1	0	1	0	0	0	0	11624	363	13	0	307	0	PDCD5	19	33077794	Frame_Shift_Del	DEL	A	TCGA-MH-A561-01A-11D-A26P-10	17857793	33077794	26051189	89	45110											
ZNF792	126375	hgsc.bcm.edu	37	19	35450211	35450211	+	Frame_Shift_Del	DEL	T	T	-			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr19:35450211delT	ENST00000404801.1	-	4	934	c.548delA	c.(547-549)aacfs	p.N183fs	ZNF792_ENST00000605484.1_Frame_Shift_Del_p.N116fs	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	183					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)			GTTGTGTACGTTCTGCTGCAC	0.542																																					GBM(1;7 183 21053 22581 22847)											0													256	248	251					19																	35450211		2203	4300	6503	SO:0001589	frameshift_variant	126375			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.548delA	chr19.hg19:g.35450211delT	ENSP00000385099:p.Asn183fs		B4E333|Q495L1|Q495L3|Q8N932	Frame_Shift_Del	DEL	ENST00000404801.1	hg19	CCDS12440.2																																																																																				0.542	ZNF792-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317673.1	NM_175872		-	35450211	T	-	35450211	7	5	764	1	0	1	0	1	0	0	0	0	18169	1725	60	0	1354	0	ZNF792	19	35450211	Frame_Shift_Del	DEL	T	TCGA-MH-A561-01A-11D-A26P-10	2372417	35450211	23678772	90	45111											
ZNF256	10172	hgsc.bcm.edu	37	19	58452565	58452565	+	Frame_Shift_Del	DEL	A	A	-			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr19:58452565delA	ENST00000282308.3	-	3	1807	c.1611delT	c.(1609-1611)catfs	p.H537fs	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	537					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)		GACTTCTCCTATGTCTAATGA	0.468																																					NSCLC(55;1313 1552 8040 11996)											0													66	58	61					19																	58452565		2203	4300	6503	SO:0001589	frameshift_variant	10172			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.1611delT	chr19.hg19:g.58452565delA	ENSP00000282308:p.His537fs		B2RA92|Q53Y85|Q9BV71	Frame_Shift_Del	DEL	ENST00000282308.3	hg19	CCDS12966.1																																																																																				0.468	ZNF256-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466702.1			-	58452565	A	-	58452565	7	5	764	1	0	1	0	1	0	0	0	0	17804	446	16	0	276	0	ZNF256	19	58452565	Frame_Shift_Del	DEL	A	TCGA-MH-A561-01A-11D-A26P-10	23002354	58452565	676418	91	45112											
PLTP	5360	hgsc.bcm.edu	37	20	44539886	44539886	+	Silent	SNP	C	C	T			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr20:44539886C>T	ENST00000477313.1	-	2	699	c.105G>A	c.(103-105)aaG>aaA	p.K35K	PLTP_ENST00000372420.1_5'Flank|PLTP_ENST00000354050.4_Silent_p.K35K|PLTP_ENST00000542937.1_Silent_p.K55K|PLTP_ENST00000372431.3_Silent_p.K35K|PLTP_ENST00000420868.2_Silent_p.K35K			P55058	PLTP_HUMAN	phospholipid transfer protein	35					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|sperm motility (GO:0030317)|vitamin E biosynthetic process (GO:0010189)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				GCCCCTCCTGCTTCACTGAAG	0.602																																																0													70	71	71					20																	44539886		2203	4300	6503	SO:0001819	synonymous_variant	5360			L26232	CCDS13386.1, CCDS13387.1, CCDS56196.1, CCDS56197.1	20q13.12	2011-08-16			ENSG00000100979	ENSG00000100979		"BPI fold containing"	9093	protein-coding gene	gene with protein product	"BPI fold containing family E"	172425					Standard	NM_006227		Approved	BPIFE	uc002xqn.2	P55058	OTTHUMG00000033047	ENST00000477313.1:c.105G>A	chr20.hg19:g.44539886C>T			A8K006|B4DDD5|B4DRB4|E1P5N8|E7EV16|Q8WTT1|Q9BR07|Q9BSH8	Silent	SNP	ENST00000477313.1	hg19	CCDS13386.1																																																																																				0.602	PLTP-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354633.1	NM_006227		T	44539886	C	T	44539886	2	4	764	1	0	0	0	0	0	0	0	1	12116	796	28	2		2	PLTP	20	44539886	Silent	SNP	C	TCGA-MH-A561-01A-11D-A26P-10		44539886	18485634	92	45113											
ZNF831	128611	hgsc.bcm.edu	37	20	57782069	57782069	+	Frame_Shift_Del	DEL	A	A	-			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr20:57782069delA	ENST00000371030.2	+	3	3985	c.3985delA	c.(3985-3987)aagfs	p.K1329fs		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1329							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)					TGAGGGACTGAAGCCATGCAG	0.577																																																0													68	73	71					20																	57782069		1968	4144	6112	SO:0001589	frameshift_variant	128611			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 174"	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.3985delA	chr20.hg19:g.57782069delA	ENSP00000360069:p.Lys1329fs		Q5TDR4|Q8TCP0	Frame_Shift_Del	DEL	ENST00000371030.2	hg19	CCDS42894.1																																																																																				0.577	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		-	57782069	A	-	57782069	7	5	764	1	0	1	0	1	0	0	0	0	18190	247	9	0	3995	0	ZNF831	20	57782069	Frame_Shift_Del	DEL	A	TCGA-MH-A561-01A-11D-A26P-10	13242183	57782069	5243451	93	45114											
SAMSN1	64092	hgsc.bcm.edu	37	21	15889252	15889252	+	Missense_Mutation	SNP	T	T	A			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr21:15889252T>A	ENST00000400566.1	-	3	321	c.240A>T	c.(238-240)aaA>aaT	p.K80N	SAMSN1_ENST00000285670.2_Missense_Mutation_p.K148N|SAMSN1_ENST00000400564.1_Intron	NM_022136.4	NP_071419.3	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	80					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)		TTTTACCCACTTTTTTCTTCA	0.328																																																0													124	109	114					21																	15889252		1797	4068	5865	SO:0001583	missense	64092			AF222927	CCDS42906.1, CCDS58786.1, CCDS74774.1	21q11	2013-01-10	2006-12-13		ENSG00000155307	ENSG00000155307		"SAM and SH3 domain containing", "Sterile alpha motif (SAM) domain containing"	10528	protein-coding gene	gene with protein product	"nuclear localization signals, SAM and SH3 domain containing 1", "SAM and SH3 domain containing 2", "hematopoietic adapter-containing SH3 and sterile &#945;-motif (SAM) domains 1", "Src homology domain 3 (SH3)-containing adapter protein SH3 lymphocyte protein 2"	607978				11536050, 11594764	Standard	NM_022136		Approved	NASH1, SASH2, SH3D6B, HACS1, SLy2	uc002yjv.1	Q9NSI8	OTTHUMG00000074317	ENST00000400566.1:c.240A>T	chr21.hg19:g.15889252T>A	ENSP00000383411:p.Lys80Asn		B3KWJ3|F8WAA1|Q8NFF7|Q9C041	Missense_Mutation	SNP	ENST00000400566.1	hg19	CCDS42906.1	.	.	.	.	.	.	.	.	.	.	T	14.39	2.520541	0.44866	.	.	ENSG00000155307	ENST00000285670;ENST00000400566	T;T	0.57752	0.38;0.38	5.35	5.35	0.76521	.	0.100854	0.64402	D	0.000003	T	0.66076	0.2753	M	0.83953	2.67	0.43750	D	0.996253	D;D	0.56746	0.977;0.962	P;P	0.55923	0.787;0.688	T	0.71500	-0.4574	10	0.87932	D	0	-16.1663	7.6865	0.28544	0.0:0.1638:0.0:0.8362	.	148;80	F8WAA1;Q9NSI8	.;SAMN1_HUMAN	N	148;80	ENSP00000285670:K148N;ENSP00000383411:K80N	ENSP00000285670:K148N	K	-	3	2	SAMSN1	14811123	1.000000	0.71417	0.880000	0.34516	0.214000	0.24535	2.251000	0.43187	2.033000	0.60031	0.533000	0.62120	AAA		0.328	SAMSN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157914.1			A	15889252	T	A	15889252	3	1	764	1	0	0	0	0	1	0	0	0	13836	1606	56	5	905	5	SAMSN1	21	15889252	Missense_Mutation	SNP	T	TCGA-MH-A561-01A-11D-A26P-10		15889252	32240643	94	45115											
TRPM2	7226	hgsc.bcm.edu	37	21	45825794	45825794	+	Silent	SNP	C	C	T			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr21:45825794C>T	ENST00000397928.1	+	18	3109	c.2664C>T	c.(2662-2664)atC>atT	p.I888I	TRPM2_ENST00000300482.5_Silent_p.I888I|TRPM2_ENST00000300481.9_Silent_p.I868I|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000397932.2_Silent_p.I888I	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	888					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						CCAGGCTCATCCCGGCGACGC	0.642																																																0													67	71	70					21																	45825794		2203	4297	6500	SO:0001819	synonymous_variant	7226			AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"Voltage-gated ion channels / Transient receptor potential cation channels", "Nudix motif containing"	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.2664C>T	chr21.hg19:g.45825794C>T			D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Silent	SNP	ENST00000397928.1	hg19	CCDS13710.1																																																																																				0.642	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		T	45825794	C	T	45825794	2	4	764	1	0	0	0	0	0	0	0	1	16591	845	30	2		2	TRPM2	21	45825794	Silent	SNP	C	TCGA-MH-A561-01A-11D-A26P-10	29936542	45825794	2304101	95	45116											
ADORA2A	135	hgsc.bcm.edu	37	22	24836558	24836558	+	Missense_Mutation	SNP	G	G	T			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr22:24836558G>T	ENST00000337539.7	+	3	799	c.340G>T	c.(340-342)Ggc>Tgc	p.G114C	ADORA2A-AS1_ENST00000427813.2_RNA|SPECC1L-ADORA2A_ENST00000358654.2_3'UTR|ADORA2A-AS1_ENST00000543438.1_RNA|ADORA2A-AS1_ENST00000326341.4_RNA|ADORA2A_ENST00000496497.1_3'UTR	NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1	NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1	P29274	AA2AR_HUMAN	adenosine A2a receptor	114					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cAMP biosynthetic process (GO:0006171)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|central nervous system development (GO:0007417)|inflammatory response (GO:0006954)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phagocytosis (GO:0006909)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|sensory perception (GO:0007600)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|G-protein coupled adenosine receptor activity (GO:0001609)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21	Colorectal(2;0.196)				Adenosine(DB00640)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Mefloquine(DB00358)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Regadenoson(DB06213)|Theobromine(DB01412)|Theophylline(DB00277)	CAGGTACAATGGCTTGGTGAC	0.567																																																0													107	101	103					22																	24836558		2203	4300	6503	SO:0001583	missense	135			X68486	CCDS13826.1	22q11.23	2012-08-08			ENSG00000128271	ENSG00000128271		"GPCR / Class A : Adenosine receptors"	263	protein-coding gene	gene with protein product		102776		ADORA2		1662665, 2541503	Standard	NM_001278497		Approved	RDC8	uc002zzy.4	P29274	OTTHUMG00000150761	ENST00000337539.7:c.340G>T	chr22.hg19:g.24836558G>T	ENSP00000336630:p.Gly114Cys		B2R7E0	Missense_Mutation	SNP	ENST00000337539.7	hg19	CCDS13826.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.71|15.71	2.914051|2.914051	0.52546|0.52546	.|.	.|.	ENSG00000128271|ENSG00000258555	ENST00000444262;ENST00000541988;ENST00000337539;ENST00000417596|ENST00000493440	T;T|.	0.20332|.	2.08;2.08|.	4.97|4.97	3.95|3.95	0.45737|0.45737	GPCR, rhodopsin-like superfamily (1);|.	0.205313|.	0.49305|.	D|.	0.000152|.	T|T	0.56217|0.56217	0.1970|0.1970	L|L	0.45470|0.45470	1.425|1.425	0.43814|0.43814	D|D	0.996375|0.996375	D|.	0.65815|.	0.995|.	P|.	0.62014|.	0.897|.	T|T	0.51872|0.51872	-0.8650|-0.8650	10|5	0.59425|.	D|.	0.04|.	-27.3119|-27.3119	9.0177|9.0177	0.36179|0.36179	0.1684:0.0:0.8316:0.0|0.1684:0.0:0.8316:0.0	.|.	114|.	P29274|.	AA2AR_HUMAN|.	C|I	114|46	ENSP00000414802:G114C;ENSP00000336630:G114C|.	ENSP00000336630:G114C|.	G|M	+|+	1|3	0|0	ADORA2A|KB-1896H10.1	23166558|23166558	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.973000|0.973000	0.67179|0.67179	3.477000|3.477000	0.53151|0.53151	1.213000|1.213000	0.43380|0.43380	0.563000|0.563000	0.77884|0.77884	GGC|ATG		0.567	ADORA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319971.2	NM_000675		T	24836558	G	T	24836558	3	4	764	1	0	0	0	0	1	0	0	0	327	1348	47	4	346	4	ADORA2A	22	24836558	Missense_Mutation	SNP	G	TCGA-MH-A561-01A-11D-A26P-10		24836558	26468008	96	45117											
SMC1A	8243	hgsc.bcm.edu	37	X	53440302	53440302	+	Silent	SNP	C	C	G			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chrX:53440302C>G	ENST00000322213.4	-	4	622	c.495G>C	c.(493-495)gcG>gcC	p.A165A	SMC1A_ENST00000375340.6_Intron	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	165					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)	p.A165A(1)		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						CATACTCCTGCGCCAGCTCCC	0.463																																																1	Substitution - coding silent(1)	lung(1)											138	124	129					X																	53440302		2203	4300	6503	SO:0001819	synonymous_variant	8243			S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"Structural maintenance of chromosomes proteins"	11111	protein-coding gene	gene with protein product		300040	"SMC1 (structural maintenance of chromosomes 1, yeast)-like 1", "SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.495G>C	chrX.hg19:g.53440302C>G			O14995|Q16351|Q2M228	Silent	SNP	ENST00000322213.4	hg19	CCDS14352.1	.	.	.	.	.	.	.	.	.	.	C	5.699	0.313435	0.10789	.	.	ENSG00000072501	ENST00000428014	.	.	.	4.63	0.543	0.17179	.	.	.	.	.	T	0.41971	0.1182	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.20773	-1.0265	4	.	.	.	.	1.4228	0.02316	0.1701:0.1318:0.2791:0.419	.	.	.	.	P	170	.	.	R	-	2	0	SMC1A	53457027	0.002000	0.14202	0.996000	0.52242	0.942000	0.58702	-1.093000	0.03362	-0.226000	0.09899	-1.768000	0.00664	CGC		0.463	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056756.2	NM_006306		G	53440302	C	G	53440302	2	3	764	1	0	0	0	0	0	0	0	1	14787	755	27	4		4	SMC1A	23	53440302	Silent	SNP	C	TCGA-MH-A561-01A-11D-A26P-10		53440302	101830258	97	45118											
GLRA4	441509	hgsc.bcm.edu	37	X	102973934	102973934	+	Intron	SNP	T	T	A			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chrX:102973934T>A	ENST00000372617.4	-	7	1354				GLRA4_ENST00000469567.1_5'Flank	NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4							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						TTGGGATGAATGGGAAATGGG	0.522																																																0													30	32	31					X																	102973934		2194	4293	6487	SO:0001627	intron_variant	441509			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.933+50A>T	chrX.hg19:g.102973934T>A				Silent	SNP	ENST00000372617.4	hg19	CCDS43980.2																																																																																				0.522	GLRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057742.2	NM_001024452		A	102973934	T	A	102973934	1	1	764	0	1	0	0	0	0	0	0	0	6459	1451	51	5		5	GLRA4	23	102973934	Intron	SNP	T	TCGA-MH-A561-01A-11D-A26P-10	49533632	102973934	52296626	98	45119											
UPF3B	65109	hgsc.bcm.edu	37	X	118985467	118985467	+	Missense_Mutation	SNP	C	C	G			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chrX:118985467C>G	ENST00000276201.2	-	3	430	c.361G>C	c.(361-363)Gac>Cac	p.D121H	UPF3B_ENST00000345865.2_Missense_Mutation_p.D121H	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	121	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						CCTTTATTGTCAAGGAATACA	0.363																																																0													104	86	92					X																	118985467		2203	4300	6503	SO:0001583	missense	65109			AF318576	CCDS14587.1, CCDS14588.1	Xq25-q26	2014-01-31			ENSG00000125351	ENSG00000125351			20439	protein-coding gene	gene with protein product		300298	"mental retardation, X-linked 62"	MRX62		11113196, 11163187, 19238151	Standard	NM_023010		Approved	RENT3B, UPF3X, HUPF3B	uc004erz.2	Q9BZI7	OTTHUMG00000022282	ENST00000276201.2:c.361G>C	chrX.hg19:g.118985467C>G	ENSP00000276201:p.Asp121His		D3DWI3|D3DWI4|Q0VAK8|Q9H1J0	Missense_Mutation	SNP	ENST00000276201.2	hg19	CCDS14588.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.031576	0.75504	.	.	ENSG00000125351	ENST00000276201;ENST00000345865;ENST00000439808	T;T	0.74526	-0.85;-0.85	5.1	5.1	0.69264	Regulator of nonsense-mediated decay, UPF3 (1);Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	D	0.90246	0.6950	H	0.95079	3.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.93290	0.6667	10	0.87932	D	0	.	16.142	0.81534	0.0:1.0:0.0:0.0	.	121;121	Q9BZI7-2;Q9BZI7	.;REN3B_HUMAN	H	121	ENSP00000276201:D121H;ENSP00000245418:D121H	ENSP00000276201:D121H	D	-	1	0	UPF3B	118869495	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.226000	0.78060	2.111000	0.64477	0.600000	0.82982	GAC		0.363	UPF3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058068.1			G	118985467	C	G	118985467	3	3	764	1	0	0	0	0	1	0	0	0	17011	826	29	4	1126	4	UPF3B	23	118985467	Missense_Mutation	SNP	C	TCGA-MH-A561-01A-11D-A26P-10	16011533	118985467	36285093	99	45120											
ZMPSTE24	10269	hgsc.bcm.edu	37	1	40724033	40724033	+	Silent	SNP	G	G	C			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr1:40724033G>C	ENST00000372759.3	+	1	255	c.90G>C	c.(88-90)gtG>gtC	p.V30V	ZMPSTE24_ENST00000479131.1_3'UTR|RP1-39G22.7_ENST00000567508.1_RNA	NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	30					CAAX-box protein processing (GO:0071586)|nuclear envelope organization (GO:0006998)|prenylated protein catabolic process (GO:0030327)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metalloexopeptidase activity (GO:0008235)			endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			CCTGGACAGTGTATCTTTGGG	0.622																																																0													121	104	109					1																	40724033		2203	4300	6503	SO:0001819	synonymous_variant	10269			Y13834	CCDS449.1	1p34	2014-09-17	2012-12-10		ENSG00000084073	ENSG00000084073	3.4.24.84		12877	protein-coding gene	gene with protein product	"Hutchinson-Gilford progeria syndrome", "CAAX prenyl protease 1 homolog"	606480	"zinc metalloproteinase (STE24 homolog, yeast)", "zinc metallopeptidase (STE24 homolog, yeast)", "zinc metallopeptidase STE24 homolog (S. cerevisiae)"			10373325, 9700155, 16671095	Standard	NM_005857		Approved	FACE-1, Ste24p, STE24, HGPS, PRO1	uc001cfg.4	O75844	OTTHUMG00000005762	ENST00000372759.3:c.90G>C	chr1.hg19:g.40724033G>C			B3KQI7|D3DPU7|Q8NDZ8|Q9UBQ2	Silent	SNP	ENST00000372759.3	hg19	CCDS449.1																																																																																				0.622	ZMPSTE24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015766.1			C	40724033	G	C	40724033	2	2	765	1	0	0	0	0	0	0	0	1	17703	1364	48	4		4	ZMPSTE24	1	40724033	Silent	SNP	G	TCGA-MH-A562-01A-11D-A26P-10		40724033	208526588	1	45121											
GSTM4	2948	hgsc.bcm.edu	37	1	110201466	110201466	+	Missense_Mutation	SNP	C	C	A			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr1:110201466C>A	ENST00000369836.4	+	6	700	c.391C>A	c.(391-393)Ctt>Att	p.L131I	GSTM4_ENST00000369833.1_Missense_Mutation_p.L90I|GSTM4_ENST00000326729.5_Missense_Mutation_p.L131I|GSTM4_ENST00000495742.1_3'UTR|GSTM4_ENST00000336075.5_Missense_Mutation_p.L70I	NM_000850.4	NP_000841.1	Q03013	GSTM4_HUMAN	glutathione S-transferase mu 4	131	GST C-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	enzyme binding (GO:0019899)|glutathione binding (GO:0043295)|glutathione transferase activity (GO:0004364)|protein homodimerization activity (GO:0042803)			endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	CTTGGAGGAACTTCCTACAAT	0.517																																																0													164	158	160					1																	110201466		2203	4300	6503	SO:0001583	missense	2948			M96234	CCDS806.1, CCDS807.1	1p13.3	2012-06-22	2008-11-26		ENSG00000168765	ENSG00000168765	2.5.1.18	"Glutathione S-transferases / Soluble"	4636	protein-coding gene	gene with protein product		138333	"glutathione S-transferase M4"			8276420	Standard	NM_000850		Approved		uc001dyf.3	Q03013	OTTHUMG00000011642	ENST00000369836.4:c.391C>A	chr1.hg19:g.110201466C>A	ENSP00000358851:p.Leu131Ile		A8K765|Q05465|Q32NC1|Q4JNT8|Q6FH87	Missense_Mutation	SNP	ENST00000369836.4	hg19	CCDS807.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.750271	0.49257	.	.	ENSG00000168765	ENST00000369836;ENST00000336075;ENST00000326729;ENST00000369833	T;T;T;T	0.04603	3.59;4.46;3.59;3.59	4.0	-0.554	0.11811	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.201178	0.32473	N	0.006046	T	0.01940	0.0061	L	0.41961	1.31	0.38907	D	0.957449	B;B;B	0.17852	0.024;0.007;0.0	B;B;B	0.23716	0.035;0.048;0.009	T	0.40346	-0.9568	10	0.44086	T	0.13	-16.1138	11.7266	0.51712	0.6127:0.3873:0.0:0.0	.	70;131;131	Q4JNT8;Q03013-2;Q03013	.;.;GSTM4_HUMAN	I	131;70;131;90	ENSP00000358851:L131I;ENSP00000336744:L70I;ENSP00000316471:L131I;ENSP00000358848:L90I	ENSP00000316471:L131I	L	+	1	0	GSTM4	110002989	0.010000	0.17322	0.005000	0.12908	0.847000	0.48162	0.193000	0.17116	-0.165000	0.10908	-0.901000	0.02856	CTT		0.517	GSTM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032187.1	NM_000850		A	110201466	C	A	110201466	3	1	765	1	0	0	0	0	1	0	0	0	6842	565	20	4	413	4	GSTM4	1	110201466	Missense_Mutation	SNP	C	TCGA-MH-A562-01A-11D-A26P-10	69477433	110201466	139049155	2	45122											
IGSF3	3321	hgsc.bcm.edu	37	1	117120184	117120184	+	Splice_Site	SNP	C	C	G			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr1:117120184C>G	ENST00000369486.3	-	11	4100	c.3335G>C	c.(3334-3336)aGt>aCt	p.S1112T	IGSF3_ENST00000318837.6_Splice_Site_p.S1132T|IGSF3_ENST00000369483.1_Splice_Site_p.S1132T	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	1112					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)		GAGGGTGGGACCTGAAAAGAA	0.493																																																0													98	102	101					1																	117120184		2203	4300	6503	SO:0001630	splice_region_variant	3321			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.3335-1G>C	chr1.hg19:g.117120184C>G			A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	hg19	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	C	7.587	0.670001	0.14776	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.02890	4.12;4.13;4.13	4.88	4.88	0.63580	.	0.310318	0.31199	N	0.008076	T	0.00695	0.0023	N	0.08118	0	0.32760	N	0.505191	B;B	0.24368	0.084;0.102	B;B	0.22386	0.028;0.039	T	0.52845	-0.8521	10	0.31617	T	0.26	.	9.0162	0.36170	0.0:0.9027:0.0:0.0973	.	1112;1132	O75054;A6NJZ6	IGSF3_HUMAN;.	T	1112;1132;1132	ENSP00000358498:S1112T;ENSP00000358495:S1132T;ENSP00000321184:S1132T	ENSP00000321184:S1132T	S	-	2	0	IGSF3	116921707	0.997000	0.39634	1.000000	0.80357	0.699000	0.40488	3.210000	0.51129	2.536000	0.85505	0.655000	0.94253	AGT		0.493	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542	Missense_Mutation	G	117120184	C	G	117120184	5	3	765	1	0	0	0	0	0	0	1	0	7603	521	18	4	253	4	IGSF3	1	117120184	Splice_Site	SNP	C	TCGA-MH-A562-01A-11D-A26P-10	6918718	117120184	132130437	3	45123											
DENND4B	9909	hgsc.bcm.edu	37	1	153907305	153907305	+	Missense_Mutation	SNP	G	G	C	rs35902206|rs557071025	byFrequency	TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr1:153907305G>C	ENST00000361217.4	-	18	3122	c.2704C>G	c.(2704-2706)Cag>Gag	p.Q902E	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	902	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)			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)			tgctgctgctgttgctgctgc	0.647																																																0													31	40	37					1																	153907305		2185	4281	6466	SO:0001583	missense	9909			AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"DENN/MADD domain containing"	29044	protein-coding gene	gene with protein product			"KIAA0476"	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.2704C>G	chr1.hg19:g.153907305G>C	ENSP00000354597:p.Gln902Glu		Q5T4K0	Missense_Mutation	SNP	ENST00000361217.4	hg19	CCDS44228.1	.	.	.	.	.	.	.	.	.	.	G	0.055	-1.239891	0.01493	.	.	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.06142	3.34;3.34	2.98	2.04	0.26737	.	0.726574	0.13139	N	0.410851	T	0.00845	0.0028	N	0.08118	0	0.22656	N	0.998883	B	0.12630	0.006	B	0.10450	0.005	T	0.47598	-0.9105	10	0.11794	T	0.64	-1.3144	7.3114	0.26477	0.0:0.0:0.7377:0.2623	.	902	O75064	DEN4B_HUMAN	E	902;913	ENSP00000354597:Q902E;ENSP00000357635:Q913E	ENSP00000354597:Q902E	Q	-	1	0	DENND4B	152173929	0.997000	0.39634	1.000000	0.80357	0.860000	0.49131	0.803000	0.27083	0.811000	0.34303	0.442000	0.29010	CAG		0.647	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		C	153907305	G	C	153907305	3	2	765	1	0	0	0	0	1	0	0	0	4436	1386	48	4	1830	4	DENND4B	1	153907305	Missense_Mutation	SNP	G	TCGA-MH-A562-01A-11D-A26P-10	36787121	153907305	95343316	4	45124											
INSRR	3645	hgsc.bcm.edu	37	1	156824054	156824054	+	Missense_Mutation	SNP	G	G	A	rs140386495		TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr1:156824054G>A	ENST00000368195.3	-	2	523	c.127C>T	c.(127-129)Cgt>Tgt	p.R43C	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	43					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)					TCCAGCTGACGAAGCTCTGCC	0.622																																																0								G	,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	37	39	39		,127	3.1	1	1	dbSNP_134	39	2,8598	2.2+/-6.3	0,2,4298	yes	intron,missense	INSRR,NTRK1	NM_001007792.1,NM_014215.2	,180	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	,probably-damaging	,43/1298	156824054	3,13003	2203	4300	6503	SO:0001583	missense	3645			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.127C>T	chr1.hg19:g.156824054G>A	ENSP00000357178:p.Arg43Cys		O60724|Q5VZS3	Missense_Mutation	SNP	ENST00000368195.3	hg19	CCDS1160.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.703881	0.48412	2.27E-4	2.33E-4	ENSG00000027644	ENST00000368195	T	0.32272	1.46	5.06	3.13	0.36017	.	0.000000	0.43416	D	0.000563	T	0.19604	0.0471	.	.	.	0.48288	D	0.999626	D	0.67145	0.996	P	0.46885	0.53	T	0.03403	-1.1040	9	0.72032	D	0.01	.	7.1713	0.25721	0.0913:0.0:0.7361:0.1726	.	43	P14616	INSRR_HUMAN	C	43	ENSP00000357178:R43C	ENSP00000357178:R43C	R	-	1	0	INSRR	155090678	0.003000	0.15002	1.000000	0.80357	0.342000	0.28953	1.267000	0.33050	1.098000	0.41479	0.557000	0.71058	CGT		0.622	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215		A	156824054	G	A	156824054	3	1	765	1	0	0	0	0	1	0	0	0	7776	1058	37	1	3849	1	INSRR	1	156824054	Missense_Mutation	SNP	G	TCGA-MH-A562-01A-11D-A26P-10	2916749	156824054	92426567	5	45125											
KLHDC9	126823	hgsc.bcm.edu	37	1	161069269	161069269	+	Missense_Mutation	SNP	G	G	A			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr1:161069269G>A	ENST00000368011.4	+	2	803	c.661G>A	c.(661-663)Ggg>Agg	p.G221R	PFDN2_ENST00000468311.1_5'Flank|KLHDC9_ENST00000392192.2_Missense_Mutation_p.G221R|KLHDC9_ENST00000490724.2_3'UTR	NM_152366.4	NP_689579.3	Q8NEP7	KLDC9_HUMAN	kelch domain containing 9	221										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)			AGAAGTAGCTGGGCATTGGAG	0.498																																																0													120	122	121					1																	161069269		2203	4300	6503	SO:0001583	missense	126823			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.661G>A	chr1.hg19:g.161069269G>A	ENSP00000356990:p.Gly221Arg		Q5SY56|Q6NXT9|Q6PKN4|Q8N5E1|Q8NA16	Missense_Mutation	SNP	ENST00000368011.4	hg19	CCDS30919.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.580835	0.46006	.	.	ENSG00000162755	ENST00000368011;ENST00000392192	T;T	0.59364	1.77;0.27	4.47	3.55	0.40652	Galactose oxidase/kelch, beta-propeller (1);	0.000000	0.64402	D	0.000018	T	0.64583	0.2611	M	0.72118	2.19	0.35694	D	0.815117	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.68500	-0.5392	10	0.46703	T	0.11	-6.0987	13.2992	0.60315	0.0878:0.0:0.9122:0.0	.	221;221	Q8NEP7-2;Q8NEP7	.;KLDC9_HUMAN	R	221	ENSP00000356990:G221R;ENSP00000376030:G221R	ENSP00000356990:G221R	G	+	1	0	KLHDC9	159335893	1.000000	0.71417	0.955000	0.39395	0.891000	0.51852	3.599000	0.54045	0.526000	0.28541	-0.797000	0.03246	GGG		0.498	KLHDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077092.1	NM_152366		A	161069269	G	A	161069269	3	1	765	1	0	0	0	0	1	0	0	0	8366	1348	47	2	667	2	KLHDC9	1	161069269	Missense_Mutation	SNP	G	TCGA-MH-A562-01A-11D-A26P-10	4245215	161069269	88181352	6	45126											
IARS2	55699	hgsc.bcm.edu	37	1	220311360	220311360	+	Missense_Mutation	SNP	A	A	G			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr1:220311360A>G	ENST00000302637.5	+	17	2254	c.2150A>G	c.(2149-2151)aAt>aGt	p.N717S	snoU13_ENST00000459443.1_RNA|IARS2_ENST00000366922.1_Missense_Mutation_p.N645S	NM_018060.3	NP_060530.3	Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	717					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)	TCCGTGCTCAATGCTGCCAGA	0.408																																																0													141	126	131					1																	220311360		2203	4300	6503	SO:0001583	missense	55699			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.2150A>G	chr1.hg19:g.220311360A>G	ENSP00000303279:p.Asn717Ser		B2RPG8|Q1M2P9|Q6PI85|Q7L439|Q86WU9|Q96D91|Q9H9Q8|Q9NW42	Missense_Mutation	SNP	ENST00000302637.5	hg19	CCDS1523.1	.	.	.	.	.	.	.	.	.	.	A	15.56	2.868965	0.51588	.	.	ENSG00000067704	ENST00000366922;ENST00000302637	T;T	0.41758	0.99;0.99	5.94	-2.49	0.06403	.	0.500458	0.25060	N	0.033452	T	0.22820	0.0551	N	0.26162	0.8	0.29693	N	0.840771	B	0.06786	0.001	B	0.08055	0.003	T	0.05289	-1.0894	10	0.54805	T	0.06	-2.622	5.3859	0.16218	0.4679:0.2548:0.2773:0.0	.	717	Q9NSE4	SYIM_HUMAN	S	645;717	ENSP00000355889:N645S;ENSP00000303279:N717S	ENSP00000303279:N717S	N	+	2	0	IARS2	218377983	0.015000	0.18098	0.161000	0.22692	0.442000	0.32017	0.217000	0.17603	-0.335000	0.08451	-0.385000	0.06624	AAT		0.408	IARS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018060		G	220311360	A	G	220311360	3	3	765	1	0	0	0	0	1	0	0	0	7476	101	4	3	2216	3	IARS2	1	220311360	Missense_Mutation	SNP	A	TCGA-MH-A562-01A-11D-A26P-10	59242091	220311360	28939261	7	45127											
URB2	9816	hgsc.bcm.edu	37	1	229771821	229771821	+	Silent	SNP	G	G	A			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr1:229771821G>A	ENST00000258243.2	+	4	1597	c.1461G>A	c.(1459-1461)caG>caA	p.Q487Q		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	487						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						CACTGAGGCAGCCTGTGCTGG	0.582																																																0													111	119	116					1																	229771821		2203	4300	6503	SO:0001819	synonymous_variant	9816			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.1461G>A	chr1.hg19:g.229771821G>A			Q5VYC9	Silent	SNP	ENST00000258243.2	hg19	CCDS31052.1																																																																																				0.582	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		A	229771821	G	A	229771821	2	1	765	1	0	0	0	0	0	0	0	1	17030	962	34	2		2	URB2	1	229771821	Silent	SNP	G	TCGA-MH-A562-01A-11D-A26P-10	9460461	229771821	19478800	8	45128											
HNRNPU	3192	hgsc.bcm.edu	37	1	245018785	245018785	+	Missense_Mutation	SNP	A	A	G			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr1:245018785A>G	ENST00000283179.9	-	12	2456	c.2293T>C	c.(2293-2295)Tac>Cac	p.Y765H	HNRNPU-AS1_ENST00000475997.1_RNA|HNRNPU_ENST00000444376.2_Missense_Mutation_p.Y746H|HNRNPU-AS1_ENST00000489705.1_RNA			Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	765	Gly-rich.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasmic ribonucleoprotein granule (GO:0036464)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			CTGTTTGAGTAACTACCACGG	0.512																																					NSCLC(33;911 1010 3329 23631 49995)											0													169	168	168					1																	245018785		2203	4300	6503	SO:0001583	missense	3192			X65488	CCDS31081.1, CCDS41479.1	1q44	2011-10-24		2007-08-16	ENSG00000153187	ENSG00000153187			5048	protein-coding gene	gene with protein product		602869		HNRPU		7509195, 8068679	Standard	NM_031844		Approved	SAF-A, hnRNPU	uc001iaz.1	Q00839	OTTHUMG00000040396	ENST00000283179.9:c.2293T>C	chr1.hg19:g.245018785A>G	ENSP00000283179:p.Tyr765His		O75507|Q8N174|Q96HY9|Q9BQ09	Missense_Mutation	SNP	ENST00000283179.9	hg19	CCDS41479.1	.	.	.	.	.	.	.	.	.	.	A	16.34	3.094744	0.56075	.	.	ENSG00000153187	ENST00000444376;ENST00000283179;ENST00000427948	T;T	0.47177	0.85;0.86	5.51	5.51	0.81932	.	0.337558	0.31936	N	0.006827	T	0.42177	0.1191	N	0.04508	-0.205	0.44289	D	0.997152	D;D;P	0.69078	0.997;0.995;0.919	P;P;P	0.62184	0.899;0.795;0.543	T	0.42732	-0.9434	10	0.15952	T	0.53	-5.3765	15.623	0.76824	1.0:0.0:0.0:0.0	.	746;765;489	Q00839-2;Q00839;Q5RI19	.;HNRPU_HUMAN;.	H	746;765;690	ENSP00000393151:Y746H;ENSP00000283179:Y765H	ENSP00000283179:Y765H	Y	-	1	0	HNRNPU	243085408	1.000000	0.71417	0.798000	0.32154	0.954000	0.61252	6.268000	0.72552	2.088000	0.63022	0.482000	0.46254	TAC		0.512	HNRNPU-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097163.3	NM_031844		G	245018785	A	G	245018785	3	3	765	1	0	0	0	0	1	0	0	0	7275	362	13	3	196	3	HNRNPU	1	245018785	Missense_Mutation	SNP	A	TCGA-MH-A562-01A-11D-A26P-10	15246964	245018785	4231836	9	45129											
RAD51AP2	729475	hgsc.bcm.edu	37	2	17692220	17692220	+	Frame_Shift_Del	DEL	T	T	-			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr2:17692220delT	ENST00000399080.2	-	3	3354	c.3331delA	c.(3331-3333)agtfs	p.S1111fs		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	1111	Interaction with RAD51.									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)					GGAAAGTGACTACCTAAAAAT	0.313																																																0													82	72	75					2																	17692220		1815	4072	5887	SO:0001589	frameshift_variant	729475			AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842			34417	protein-coding gene	gene with protein product						16990250	Standard	NM_001099218		Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.3331delA	chr2.hg19:g.17692220delT	ENSP00000382030:p.Ser1111fs			Frame_Shift_Del	DEL	ENST00000399080.2	hg19	CCDS42656.1																																																																																				0.313	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323801.3	NM_001099218		-	17692220	T	-	17692220	7	5	765	1	0	1	0	1	0	0	0	0	12993	1522	53	0	152	0	RAD51AP2	2	17692220	Frame_Shift_Del	DEL	T	TCGA-MH-A562-01A-11D-A26P-10		17692220	225507153	10	45130											
OSR1	130497	hgsc.bcm.edu	37	2	19552164	19552164	+	Missense_Mutation	SNP	G	G	A			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr2:19552164G>A	ENST00000272223.2	-	3	1017	c.673C>T	c.(673-675)Cac>Tac	p.H225Y	OSR1_ENST00000536433.1_Missense_Mutation_p.H225Y	NM_145260.2	NP_660303.1	Q8TAX0	OSR1_HUMAN	odd-skipped related transciption factor 1	225					cell differentiation (GO:0030154)|cell proliferation involved in kidney development (GO:0072111)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal joint morphogenesis (GO:0060272)|embryonic skeletal limb joint morphogenesis (GO:0036023)|gonad development (GO:0008406)|heart development (GO:0007507)|intermediate mesoderm development (GO:0048389)|mesangial cell development (GO:0072143)|mesonephric duct morphogenesis (GO:0072180)|mesonephros development (GO:0001823)|metanephric cap mesenchymal cell proliferation involved in metanephros development (GO:0090094)|metanephric epithelium development (GO:0072207)|metanephric glomerulus vasculature development (GO:0072239)|metanephric interstitial fibroblast development (GO:0072259)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchyme development (GO:0072075)|metanephric mesenchyme morphogenesis (GO:0072133)|metanephric nephron tubule development (GO:0072234)|metanephric smooth muscle tissue development (GO:0072208)|middle ear morphogenesis (GO:0042474)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of nephron tubule epithelial cell differentiation (GO:0072183)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis (GO:0042476)|palate development (GO:0060021)|pattern specification involved in metanephros development (GO:0072268)|positive regulation of bone mineralization (GO:0030501)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gastrulation (GO:2000543)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posterior mesonephric tubule development (GO:0072166)|pronephros development (GO:0048793)|renal vesicle progenitor cell differentiation (GO:0072184)|specification of anterior mesonephric tubule identity (GO:0072168)|specification of posterior mesonephric tubule identity (GO:0072169)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)|ureter urothelium development (GO:0072190)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(1)|large_intestine(2)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				TCTTTGGAGTGAATATATCTG	0.493																																																0													119	109	112					2																	19552164		2203	4300	6503	SO:0001583	missense	130497			BC025712	CCDS1694.1	2p24.1	2013-10-17	2013-10-17	2004-11-26	ENSG00000143867	ENSG00000143867		"Zinc fingers, C2H2-type"	8111	protein-coding gene	gene with protein product		608891	"odd-skipped (Drosophila) homolog", "odd-skipped related 1 (Drosophila)"	ODD		2120051, 12119563	Standard	XM_006711942		Approved		uc002rdc.3	Q8TAX0	OTTHUMG00000088793	ENST00000272223.2:c.673C>T	chr2.hg19:g.19552164G>A	ENSP00000272223:p.His225Tyr		B3KV97|D6W521	Missense_Mutation	SNP	ENST00000272223.2	hg19	CCDS1694.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550306	0.86127	.	.	ENSG00000143867	ENST00000272223;ENST00000536433	D;D	0.88896	-2.44;-2.44	5.01	5.01	0.66863	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.049292	0.85682	D	0.000000	D	0.95245	0.8458	M	0.93283	3.4	0.58432	D	0.999996	P	0.38148	0.62	P	0.52758	0.708	D	0.95373	0.8466	9	.	.	.	-8.151	18.0945	0.89485	0.0:0.0:1.0:0.0	.	225	Q8TAX0	OSR1_HUMAN	Y	225	ENSP00000272223:H225Y;ENSP00000441801:H225Y	.	H	-	1	0	OSR1	19415645	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.595000	0.98260	2.606000	0.88127	0.561000	0.74099	CAC		0.493	OSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000201432.2	NM_145260		A	19552164	G	A	19552164	3	1	765	1	0	0	0	0	1	0	0	0	11295	1290	45	2	131	2	OSR1	2	19552164	Missense_Mutation	SNP	G	TCGA-MH-A562-01A-11D-A26P-10	1859944	19552164	223647209	11	45131											
MPHOSPH10	10199	hgsc.bcm.edu	37	2	71368372	71368378	+	Frame_Shift_Del	DEL	ATGTAGT	ATGTAGT	-			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10	ATGTAGT	ATGTAGT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr2:71368372_71368378delATGTAGT	ENST00000244230.2	+	7	1671_1677	c.1319_1325delATGTAGT	c.(1318-1326)gatgtagtafs	p.DVV440fs		NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	440					negative regulation of phosphatase activity (GO:0010923)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|rRNA processing (GO:0006364)	chromosome (GO:0005694)|nucleolus (GO:0005730)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						GCTTGGGATGATGTAGTACGTAAAGAA	0.324																																																0																																										SO:0001589	frameshift_variant	10199			X98494	CCDS1916.1	2p13.3	2014-06-12			ENSG00000124383	ENSG00000124383			7213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 106"	605503				8885239, 9450966	Standard	NM_005791		Approved	MPP10, MPP10P, CT90, PPP1R106	uc002sht.2	O00566	OTTHUMG00000129715	ENST00000244230.2:c.1319_1325delATGTAGT	chr2.hg19:g.71368372_71368378delATGTAGT	ENSP00000244230:p.Asp440fs		A0AVJ8	Frame_Shift_Del	DEL	ENST00000244230.2	hg19	CCDS1916.1																																																																																				0.324	MPHOSPH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251924.2	NM_005791		-	71368378	ATGTAGT	-	71368372	7	5	765	1	0	1	0	1	0	0	0	0	9727	333	12	0	1345	0	MPHOSPH10	2	71368372	Frame_Shift_Del	DEL	ATGTAGT	TCGA-MH-A562-01A-11D-A26P-10	51816208	71368372	171831001	12	45132											
IP6K2	51447	hgsc.bcm.edu	37	3	48728866	48728866	+	Missense_Mutation	SNP	A	A	G			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr3:48728866A>G	ENST00000328631.5	-	4	701	c.478T>C	c.(478-480)Tac>Cac	p.Y160H		NM_001005909.2|NM_016291.3	NP_001005909.1|NP_057375.2	Q9UHH9	IP6K2_HUMAN	inositol hexakisphosphate kinase 2	160					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						ACAGTGTAGTACAAGACTTCA	0.363																																																0													154	146	149					3																	48728866		2203	4300	6503	SO:0001583	missense	51447			AF177145	CCDS2777.1, CCDS33752.1, CCDS54579.1, CCDS54580.1, CCDS54581.1	3p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000068745	ENSG00000068745			17313	protein-coding gene	gene with protein product		606992	"inositol hexaphosphate kinase 2"	IHPK2		10574768	Standard	NM_016291		Approved		uc003cup.3	Q9UHH9	OTTHUMG00000133543	ENST00000328631.5:c.478T>C	chr3.hg19:g.48728866A>G	ENSP00000331103:p.Tyr160His		A8K3B1|B4E3G6|G8JLL6|Q6P0N8|Q9BSZ6|Q9BUW3|Q9H4P7|Q9NT63|Q9UFU6	Missense_Mutation	SNP	ENST00000328631.5	hg19	CCDS2777.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.109209	0.77096	.	.	ENSG00000068745	ENST00000328631	T	0.18657	2.2	5.6	5.6	0.85130	.	0.169966	0.53938	D	0.000049	T	0.23330	0.0564	L	0.58101	1.795	0.80722	D	1	P	0.49447	0.924	B	0.40782	0.34	T	0.03852	-1.0998	10	0.22706	T	0.39	-18.3925	15.8359	0.78796	1.0:0.0:0.0:0.0	.	160	Q9UHH9	IP6K2_HUMAN	H	160	ENSP00000331103:Y160H	ENSP00000331103:Y160H	Y	-	1	0	IP6K2	48703870	1.000000	0.71417	0.993000	0.49108	0.991000	0.79684	7.511000	0.81718	2.141000	0.66446	0.524000	0.50904	TAC		0.363	IP6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257521.2	NM_016291		G	48728866	A	G	48728866	3	3	765	1	0	0	0	0	1	0	0	0	7791	391	14	3	814	3	IP6K2	3	48728866	Missense_Mutation	SNP	A	TCGA-MH-A562-01A-11D-A26P-10		48728866	149293564	13	45133											
OR5H2	79310	hgsc.bcm.edu	37	3	98001882	98001882	+	Missense_Mutation	SNP	A	A	C			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr3:98001882A>C	ENST00000355273.2	+	1	151	c.151A>C	c.(151-153)Att>Ctt	p.I51L	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	51						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(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						CCTTGGTCTGATTGCTCTTAT	0.433																																																0													359	331	340					3																	98001882		2203	4300	6503	SO:0001583	missense	79310				CCDS33801.1	3q11.2	2013-09-23			ENSG00000197938	ENSG00000197938		"GPCR / Class A : Olfactory receptors"	14752	protein-coding gene	gene with protein product							Standard	NM_001005482		Approved		uc003dsj.1	Q8NGV7	OTTHUMG00000160080	ENST00000355273.2:c.151A>C	chr3.hg19:g.98001882A>C	ENSP00000347418:p.Ile51Leu		Q6IF87	Missense_Mutation	SNP	ENST00000355273.2	hg19	CCDS33801.1	.	.	.	.	.	.	.	.	.	.	A	9.652	1.141906	0.21205	.	.	ENSG00000197938	ENST00000355273	T	0.00614	6.21	3.2	3.2	0.36748	GPCR, rhodopsin-like superfamily (1);	0.180712	0.26582	U	0.023580	T	0.01061	0.0035	L	0.52905	1.665	0.09310	N	1	P	0.45768	0.866	P	0.46585	0.521	T	0.48864	-0.8997	10	0.72032	D	0.01	.	5.7492	0.18138	0.7608:0.0:0.0:0.2391	.	51	Q8NGV7	OR5H2_HUMAN	L	51	ENSP00000347418:I51L	ENSP00000347418:I51L	I	+	1	0	OR5H2	99484572	0.003000	0.15002	0.516000	0.27786	0.041000	0.13682	0.917000	0.28665	1.458000	0.47871	0.443000	0.29094	ATT		0.433	OR5H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359113.2			C	98001882	A	C	98001882	3	2	765	1	0	0	0	0	1	0	0	0	11164	333	12	5	153	5	OR5H2	3	98001882	Missense_Mutation	SNP	A	TCGA-MH-A562-01A-11D-A26P-10	49273016	98001882	100020548	14	45134											
RG9MTD1	54931	hgsc.bcm.edu	37	3	101284160	101284160	+	Frame_Shift_Del	DEL	T	T	-			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr3:101284160delT	ENST00000309922.6	+	2	689	c.535delT	c.(535-537)tttfs	p.F179fs		NM_017819.2	NP_060289.2	Q7L0Y3	MRRP1_HUMAN	tRNA methyltransferase 10 homolog C (S. cerevisiae)	179					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)										AAACTTTCTATTTTTACGACT	0.408																																																0													84	80	81					3																	101284160		1827	4080	5907	SO:0001589	frameshift_variant	54931			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.535delT	chr3.hg19:g.101284160delT	ENSP00000312356:p.Phe179fs		Q9NRG5|Q9NX54|Q9Y596	Frame_Shift_Del	DEL	ENST00000309922.6	hg19	CCDS43122.1																																																																																				0.408	TRMT10C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353400.2	NM_017819		-	101284160	T	-	101284160	7	5	765	1	0	1	0	1	0	0	0	0	13277	1493	52	0	537	0	RG9MTD1	3	101284160	Frame_Shift_Del	DEL	T	TCGA-MH-A562-01A-11D-A26P-10	3282278	101284160	96738270	15	45135											
TPRA1	131601	hgsc.bcm.edu	37	3	127292425	127292425	+	Missense_Mutation	SNP	G	G	C	rs201165800	byFrequency	TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr3:127292425G>C	ENST00000355552.3	-	11	1437	c.1061C>G	c.(1060-1062)cCc>cGc	p.P354R	TPRA1_ENST00000450633.2_Missense_Mutation_p.P354R|TPRA1_ENST00000465915.1_5'Flank|TPRA1_ENST00000489960.1_Missense_Mutation_p.P354R|TPRA1_ENST00000296210.7_3'UTR	NM_001136053.1	NP_001129525.1	Q86W33	TPRA1_HUMAN	transmembrane protein, adipocyte asscociated 1	354					aging (GO:0007568)|G-protein coupled receptor signaling pathway (GO:0007186)|lipid metabolic process (GO:0006629)	integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	9						AGTGTGGCAGGGCATGGAAGC	0.657																																																0													47	48	47					3																	127292425		2202	4300	6502	SO:0001583	missense	131601			AK056759	CCDS3042.1, CCDS46899.1	3q21.2	2012-08-22	2009-07-08	2009-07-08	ENSG00000163870	ENSG00000163870		"GPCR / Unclassified : 7TM orphan receptors"	30413	protein-coding gene	gene with protein product	"transmembrane protein 227"	608336	"G protein-coupled receptor 175"	GPR175		10342878	Standard	NM_001136053		Approved	TPRA40, FLJ32197, TMEM227	uc003ejn.3	Q86W33	OTTHUMG00000159639	ENST00000355552.3:c.1061C>G	chr3.hg19:g.127292425G>C	ENSP00000347748:p.Pro354Arg		A8MVB8|D3DNA9|Q8WZ24|Q96AJ6|Q9P2R4	Missense_Mutation	SNP	ENST00000355552.3	hg19	CCDS3042.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.553183	0.86127	.	.	ENSG00000163870	ENST00000450633;ENST00000355552;ENST00000489960	.	.	.	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.66489	0.2794	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.70135	-0.4955	9	0.56958	D	0.05	-26.1417	18.2482	0.89993	0.0:0.0:1.0:0.0	.	354	Q86W33	TPRA1_HUMAN	R	354	.	ENSP00000347748:P354R	P	-	2	0	TPRA1	128775115	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.058000	0.93896	2.305000	0.77605	0.491000	0.48974	CCC		0.657	TPRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356624.1	NM_016372		C	127292425	G	C	127292425	3	2	765	1	0	0	0	0	1	0	0	0	16422	1232	43	4	64	4	TPRA1	3	127292425	Missense_Mutation	SNP	G	TCGA-MH-A562-01A-11D-A26P-10	26008265	127292425	70730005	16	45136											
ADD1	118	hgsc.bcm.edu	37	4	2883755	2883755	+	Missense_Mutation	SNP	C	C	A			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr4:2883755C>A	ENST00000398129.1	+	2	346	c.326C>A	c.(325-327)gCt>gAt	p.A109D	ADD1_ENST00000513328.2_Missense_Mutation_p.A109D|ADD1_ENST00000398125.1_Missense_Mutation_p.A109D|ADD1_ENST00000355842.3_Missense_Mutation_p.A109D|ADD1_ENST00000398123.2_Missense_Mutation_p.A109D|ADD1_ENST00000446856.1_Missense_Mutation_p.A109D|ADD1_ENST00000503455.2_Missense_Mutation_p.A109D|ADD1_ENST00000264758.7_Missense_Mutation_p.A109D			P35611	ADDA_HUMAN	adducin 1 (alpha)	109					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)		TACCCAGCAGCTCCGCAAGGA	0.423																																					Esophageal Squamous(71;505 1201 20414 34538 37449)											0													152	144	147					4																	2883755		2203	4300	6503	SO:0001583	missense	118			L07261	CCDS3363.1, CCDS3364.1, CCDS43205.1, CCDS75094.1	4p16.3	2009-04-22			ENSG00000087274	ENSG00000087274			243	protein-coding gene	gene with protein product		102680				1840603	Standard	NM_001119		Approved		uc003gfq.3	P35611	OTTHUMG00000122080	ENST00000398129.1:c.326C>A	chr4.hg19:g.2883755C>A	ENSP00000381197:p.Ala109Asp		A2A3N8|A2A3P0|B4DI79|D3DVR3|D3DVR4|D3DVR5|Q13734|Q14729|Q16156|Q86XM2|Q9UJB6	Missense_Mutation	SNP	ENST00000398129.1	hg19	CCDS43205.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.894195	0.52121	.	.	ENSG00000087274	ENST00000264758;ENST00000446856;ENST00000398125;ENST00000398124;ENST00000511797;ENST00000513328;ENST00000503455;ENST00000355842;ENST00000398123;ENST00000398129	T;T;T;T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.25717	0.0626	N	0.22421	0.69	0.80722	D	1	B;B;P;B;B;P;B	0.42556	0.003;0.0;0.783;0.005;0.014;0.741;0.19	B;B;B;B;B;B;B	0.40477	0.006;0.002;0.33;0.01;0.022;0.238;0.042	T	0.04386	-1.0955	10	0.45353	T	0.12	-22.0196	18.2285	0.89926	0.0:1.0:0.0:0.0	.	109;109;109;109;109;109;109	E7ENY0;B4DI79;Q86XM2;P35611;P35611-3;P35611-2;A2A3N8	.;.;.;ADDA_HUMAN;.;.;.	D	109	ENSP00000264758:A109D;ENSP00000399828:A109D;ENSP00000381193:A109D;ENSP00000421918:A109D;ENSP00000421907:A109D;ENSP00000423024:A109D;ENSP00000348100:A109D;ENSP00000381191:A109D;ENSP00000381197:A109D	ENSP00000264758:A109D	A	+	2	0	ADD1	2853553	1.000000	0.71417	0.863000	0.33907	0.601000	0.36947	5.634000	0.67833	2.540000	0.85666	0.491000	0.48974	GCT		0.423	ADD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242840.1	NM_014189		A	2883755	C	A	2883755	3	1	765	1	0	0	0	0	1	0	0	0	304	797	28	4	332	4	ADD1	4	2883755	Missense_Mutation	SNP	C	TCGA-MH-A562-01A-11D-A26P-10		2883755	188270521	17	45137											
SLC34A2	10568	hgsc.bcm.edu	37	4	25676246	25676246	+	Missense_Mutation	SNP	C	C	G	rs375377923		TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr4:25676246C>G	ENST00000382051.3	+	12	1503	c.1453C>G	c.(1453-1455)Ctc>Gtc	p.L485V	SLC34A2_ENST00000504570.1_Missense_Mutation_p.L484V|SLC34A2_ENST00000503434.1_Missense_Mutation_p.L484V	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	485					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)				GAGGAGTTCACTCCAGGTCAG	0.602			T	ROS1	NSCLC																																		Dom	yes		4	4p15.2	10568	"solute carrier family 34 (sodium phosphate), member 2"		E	0													69	74	72					4																	25676246		2203	4300	6503	SO:0001583	missense	10568			AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"Solute carriers"	11020	protein-coding gene	gene with protein product		604217	"solute carrier family 34 (sodium phosphate), member 2"			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.1453C>G	chr4.hg19:g.25676246C>G	ENSP00000371483:p.Leu485Val		A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Missense_Mutation	SNP	ENST00000382051.3	hg19	CCDS3435.1	.	.	.	.	.	.	.	.	.	.	C	3.915	-0.019199	0.07634	.	.	ENSG00000157765	ENST00000504570;ENST00000382051;ENST00000503434	D;D;D	0.86497	-2.13;-2.13;-2.13	5.31	3.54	0.40534	.	0.068142	0.64402	D	0.000012	D	0.84079	0.5393	L	0.55103	1.725	0.42232	D	0.991895	P;P	0.35944	0.473;0.529	B;P	0.44696	0.336;0.458	T	0.78534	-0.2167	10	0.37606	T	0.19	-25.8301	2.7152	0.05185	0.3196:0.4244:0.1554:0.1006	.	484;485	O95436-2;O95436	.;NPT2B_HUMAN	V	484;485;484	ENSP00000425501:L484V;ENSP00000371483:L485V;ENSP00000423021:L484V	ENSP00000371483:L485V	L	+	1	0	SLC34A2	25285344	0.105000	0.21958	0.623000	0.29173	0.023000	0.10783	0.614000	0.24314	0.698000	0.31739	0.561000	0.74099	CTC		0.602	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424		G	25676246	C	G	25676246	3	3	765	1	0	0	0	0	1	0	0	0	14574	565	20	4	1495	4	SLC34A2	4	25676246	Missense_Mutation	SNP	C	TCGA-MH-A562-01A-11D-A26P-10	22792491	25676246	165478030	18	45138											
CWH43	80157	hgsc.bcm.edu	37	4	49032879	49032879	+	Silent	SNP	T	T	G			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr4:49032879T>G	ENST00000226432.4	+	11	1593	c.1410T>G	c.(1408-1410)tcT>tcG	p.S470S	CWH43_ENST00000513409.1_Silent_p.S443S	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	470					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						GTGATGCTTCTAAGCCCTATA	0.403																																																0													130	131	130					4																	49032879		2203	4300	6503	SO:0001819	synonymous_variant	80157				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.1410T>G	chr4.hg19:g.49032879T>G			B2RPD7	Silent	SNP	ENST00000226432.4	hg19	CCDS3486.1																																																																																				0.403	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250496.2	NM_025087		G	49032879	T	G	49032879	2	3	765	1	0	0	0	0	0	0	0	1	4075	1509	53	5		5	CWH43	4	49032879	Silent	SNP	T	TCGA-MH-A562-01A-11D-A26P-10	23356633	49032879	142121397	19	45139											
PRKG2	5593	hgsc.bcm.edu	37	4	82061797	82061797	+	Silent	SNP	A	A	T			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr4:82061797A>T	ENST00000395578.1	-	12	1550	c.1434T>A	c.(1432-1434)gcT>gcA	p.A478A	PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000418486.2_Silent_p.A449A|PRKG2_ENST00000264399.1_Silent_p.A478A|PRKG2_ENST00000545647.1_Silent_p.A58A			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	478	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						TCATAGCAAAAGCAACATTCT	0.353																																																0													130	116	121					4																	82061797		2203	4300	6503	SO:0001819	synonymous_variant	5593			X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.1434T>A	chr4.hg19:g.82061797A>T			B4DMX3|E7EPE6|O00125|O60916	Silent	SNP	ENST00000395578.1	hg19	CCDS3589.1																																																																																				0.353	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252639.1	NM_006259		T	82061797	A	T	82061797	2	4	765	1	0	0	0	0	0	0	0	1	12528	59	3	5		5	PRKG2	4	82061797	Silent	SNP	A	TCGA-MH-A562-01A-11D-A26P-10	33028918	82061797	109092479	20	45140											
FAT1	2195	hgsc.bcm.edu	37	4	187627969	187627969	+	Missense_Mutation	SNP	C	C	T			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr4:187627969C>T	ENST00000441802.2	-	2	3222	c.3013G>A	c.(3013-3015)Gac>Aac	p.D1005N		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1005	Cadherin 8. {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						TTTCCCTTGTCTTTGGCCCTC	0.458										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)											0													108	110	109					4																	187627969		1971	4147	6118	SO:0001583	missense	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.3013G>A	chr4.hg19:g.187627969C>T	ENSP00000406229:p.Asp1005Asn			Missense_Mutation	SNP	ENST00000441802.2	hg19	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.374390	0.82573	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.65364	-0.15	4.55	4.55	0.56014	Cadherin (5);Cadherin-like (1);	0.106734	0.64402	D	0.000008	T	0.79191	0.4404	M	0.82132	2.575	0.80722	D	1	D	0.59767	0.986	D	0.63703	0.917	T	0.82963	-0.0196	10	0.87932	D	0	.	17.8551	0.88760	0.0:1.0:0.0:0.0	.	1005	Q14517	FAT1_HUMAN	N	1005	ENSP00000406229:D1005N	ENSP00000260147:D1005N	D	-	1	0	FAT1	187864963	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	7.606000	0.82863	2.508000	0.84585	0.491000	0.48974	GAC		0.458	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		T	187627969	C	T	187627969	3	4	765	1	0	0	0	0	1	0	0	0	5691	913	32	2	10857	2	FAT1	4	187627969	Missense_Mutation	SNP	C	TCGA-MH-A562-01A-11D-A26P-10	105566172	187627969	3526307	21	45141											
SKIV2L2	23517	hgsc.bcm.edu	37	5	54635905	54635905	+	Missense_Mutation	SNP	A	A	G			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr5:54635905A>G	ENST00000230640.5	+	6	837	c.583A>G	c.(583-585)Agt>Ggt	p.S195G	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.S94G	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	195	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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)				TAAGGCTCTGAGTAACCAAAA	0.363																																					Melanoma(2;92 134 23744 29976 33782)											0													141	137	139					5																	54635905		2203	4300	6503	SO:0001583	missense	23517			D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123			18734	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 118"		"KIAA0052"	KIAA0052			Standard	NM_015360		Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.583A>G	chr5.hg19:g.54635905A>G	ENSP00000230640:p.Ser195Gly		Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Missense_Mutation	SNP	ENST00000230640.5	hg19	CCDS3967.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.543682	0.86022	.	.	ENSG00000039123	ENST00000230640;ENST00000545714	T;T	0.15139	2.45;2.45	5.98	5.98	0.97165	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.088703	0.85682	D	0.000000	T	0.55289	0.1911	H	0.94345	3.525	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.993;0.999	T	0.68704	-0.5338	10	0.87932	D	0	-18.2935	16.4566	0.84019	1.0:0.0:0.0:0.0	.	94;195	F5H7E2;P42285	.;SK2L2_HUMAN	G	195;94	ENSP00000230640:S195G;ENSP00000442583:S94G	ENSP00000230640:S195G	S	+	1	0	SKIV2L2	54671662	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	7.102000	0.77005	2.293000	0.77203	0.477000	0.44152	AGT		0.363	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214108.1			G	54635905	A	G	54635905	3	3	765	1	0	0	0	0	1	0	0	0	14366	304	11	3	605	3	SKIV2L2	5	54635905	Missense_Mutation	SNP	A	TCGA-MH-A562-01A-11D-A26P-10		54635905	126279355	22	45142											
VCAN	1462	hgsc.bcm.edu	37	5	82815685	82815685	+	Silent	SNP	G	G	A			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr5:82815685G>A	ENST00000265077.3	+	7	2125	c.1560G>A	c.(1558-1560)ttG>ttA	p.L520L	VCAN_ENST00000512590.2_Silent_p.L472L|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Silent_p.L520L	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	520	GAG-alpha (glucosaminoglycan attachment domain).				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)	AAACACCATTGGTAACTGCAA	0.393																																																0													127	127	127					5																	82815685		2203	4300	6503	SO:0001819	synonymous_variant	1462			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.1560G>A	chr5.hg19:g.82815685G>A			P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Silent	SNP	ENST00000265077.3	hg19	CCDS4060.1																																																																																				0.393	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		A	82815685	G	A	82815685	2	1	765	1	0	0	0	0	0	0	0	1	17143	1339	47	2		2	VCAN	5	82815685	Silent	SNP	G	TCGA-MH-A562-01A-11D-A26P-10	28179780	82815685	98099575	23	45143											
PHACTR1	221692	hgsc.bcm.edu	37	6	13283687	13283687	+	Missense_Mutation	SNP	G	G	C			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr6:13283687G>C	ENST00000379335.3	+	3	340	c.235G>C	c.(235-237)Gaa>Caa	p.E79Q	RP1-257A7.4_ENST00000606150.1_RNA|PHACTR1_ENST00000332995.7_Missense_Mutation_p.E515Q|PHACTR1_ENST00000379329.1_Missense_Mutation_p.E79Q|PHACTR1_ENST00000457702.2_Missense_Mutation_p.E370Q|RP1-257A7.4_ENST00000399446.2_RNA			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	515					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)			AGAGCTTCGGGAAAGAAAGAT	0.597																																																0													125	138	134					6																	13283687		2033	4200	6233	SO:0001583	missense	221692			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	ENST00000379335.3:c.235G>C	chr6.hg19:g.13283687G>C	ENSP00000368639:p.Glu79Gln		A8K1V2|Q3MJ93|Q5JSJ2	Missense_Mutation	SNP	ENST00000379335.3	hg19		.	.	.	.	.	.	.	.	.	.	G	21.1	4.095811	0.76870	.	.	ENSG00000112137	ENST00000332995;ENST00000457702;ENST00000379335;ENST00000379329	T;T	0.32988	1.43;1.43	5.78	5.78	0.91487	.	0.094270	0.64402	D	0.000001	T	0.32224	0.0822	N	0.21448	0.665	0.80722	D	1	D	0.63046	0.992	D	0.67548	0.952	T	0.03193	-1.1062	10	0.33940	T	0.23	-15.365	19.0064	0.92852	0.0:0.0:1.0:0.0	.	515	Q9C0D0	PHAR1_HUMAN	Q	515;370;79;79	ENSP00000329880:E515Q;ENSP00000397669:E370Q	ENSP00000329880:E515Q	E	+	1	0	PHACTR1	13391666	1.000000	0.71417	0.985000	0.45067	0.919000	0.55068	9.623000	0.98386	2.738000	0.93877	0.655000	0.94253	GAA		0.597	PHACTR1-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000039878.1	XM_166420		C	13283687	G	C	13283687	3	2	765	1	0	0	0	0	1	0	0	0	11811	1175	41	4	1585	4	PHACTR1	6	13283687	Missense_Mutation	SNP	G	TCGA-MH-A562-01A-11D-A26P-10		13283687	157831380	24	45144											
ZFP57	346171	hgsc.bcm.edu	37	6	29643249	29643249	+	Missense_Mutation	SNP	T	T	C			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr6:29643249T>C	ENST00000488757.1	-	3	416	c.266A>G	c.(265-267)cAt>cGt	p.H89R	ZFP57_ENST00000376881.3_Missense_Mutation_p.H69R|ZFP57_ENST00000376883.1_Missense_Mutation_p.H69R	NM_001109809.2	NP_001103279.2	Q9NU63	ZFP57_HUMAN	ZFP57 zinc finger protein	61					DNA methylation involved in embryo development (GO:0043045)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peripheral nervous system development (GO:0007422)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription, DNA-templated (GO:0006351)	nuclear heterochromatin (GO:0005720)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						CTCTGGCTTATGCAGAAAGAT	0.483																																																0													221	207	212					6																	29643249		1947	4153	6100	SO:0001583	missense	346171			AL050328	CCDS43436.1, CCDS43436.2	6p22.1	2013-01-08	2012-11-27	2005-07-20	ENSG00000204644	ENSG00000204644		"Zinc fingers, C2H2-type", "-"	18791	protein-coding gene	gene with protein product		612192	"chromosome 6 open reading frame 40", "zinc finger protein 57 homolog (mouse)"	C6orf40			Standard	NM_001109809		Approved	ZNF698, bA145L22, bA145L22.2	uc011dlw.2	Q9NU63	OTTHUMG00000031158	ENST00000488757.1:c.266A>G	chr6.hg19:g.29643249T>C	ENSP00000418259:p.His89Arg		B0S894|B0V254|B2RXJ7|Q5SSB1	Missense_Mutation	SNP	ENST00000488757.1	hg19	CCDS43436.2	.	.	.	.	.	.	.	.	.	.	T	4.922	0.171264	0.09391	.	.	ENSG00000204644	ENST00000488757;ENST00000376881;ENST00000376883	T;T;T	0.00768	5.72;5.72;5.72	4.36	0.288	0.15719	.	0.866899	0.09598	N	0.780620	T	0.00210	0.0006	N	0.14661	0.345	0.09310	N	1	B;B	0.25169	0.119;0.119	B;B	0.23574	0.047;0.047	T	0.25152	-1.0140	10	0.34782	T	0.22	0.7587	4.8209	0.13390	0.173:0.0:0.599:0.2281	.	89;69	Q9NU63-3;Q9NU63-2	.;.	R	89;69;69	ENSP00000418259:H89R;ENSP00000366078:H69R;ENSP00000366080:H69R	ENSP00000366078:H69R	H	-	2	0	ZFP57	29751228	0.003000	0.15002	0.001000	0.08648	0.153000	0.21895	0.428000	0.21395	-0.071000	0.12886	-0.313000	0.08912	CAT		0.483	ZFP57-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355773.1	XM_294093		C	29643249	T	C	29643249	3	2	765	1	0	0	0	0	1	0	0	0	17656	1464	51	3	1352	3	ZFP57	6	29643249	Missense_Mutation	SNP	T	TCGA-MH-A562-01A-11D-A26P-10	16359562	29643249	141471818	25	45145											
BAT5	7920	hgsc.bcm.edu	37	6	31657863	31657863	+	Missense_Mutation	SNP	C	C	T			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr6:31657863C>T	ENST00000395952.3	-	11	1111	c.949G>A	c.(949-951)Gga>Aga	p.G317R	ABHD16A_ENST00000375842.4_Missense_Mutation_p.G98R|XXbac-BPG32J3.20_ENST00000461287.1_3'UTR|ABHD16A_ENST00000471644.1_5'UTR|ABHD16A_ENST00000440843.2_Missense_Mutation_p.G284R	NM_021160.2	NP_066983.1	O95870	ABHGA_HUMAN	abhydrolase domain containing 16A	317						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						ACCGTGCTTCCAGCAAAGCCT	0.547																																																0													68	56	60					6																	31657863		1511	2709	4220	SO:0001583	missense	7920			AF129756	CCDS4713.1, CCDS54988.1	6p21.3	2013-01-17	2010-12-09	2010-12-09	ENSG00000204427	ENSG00000204427		"Abhydrolase domain containing"	13921	protein-coding gene	gene with protein product		142620	"HLA-B associated transcript 5"	BAT5		2911734, 2813433	Standard	NM_021160		Approved	NG26, D6S82E	uc003nvy.2	O95870	OTTHUMG00000031177	ENST00000395952.3:c.949G>A	chr6.hg19:g.31657863C>T	ENSP00000379282:p.Gly317Arg		A2BEY3|B7Z4R6|Q5SRR1|Q5SRR2|Q8WYH0|Q9NW33	Missense_Mutation	SNP	ENST00000395952.3	hg19	CCDS4713.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.733977	0.89482	.	.	ENSG00000204427	ENST00000395952;ENST00000375842;ENST00000440843	T;T;T	0.21191	2.02;2.02;2.02	5.4	5.4	0.78164	.	0.108527	0.64402	D	0.000008	T	0.30792	0.0776	L	0.55834	1.745	0.80722	D	1	D;D	0.76494	0.96;0.999	P;D	0.71656	0.772;0.974	T	0.00909	-1.1518	10	0.30078	T	0.28	-9.9061	16.6668	0.85255	0.0:1.0:0.0:0.0	.	284;317	B7Z4R6;O95870	.;ABHGA_HUMAN	R	317;98;284	ENSP00000379282:G317R;ENSP00000365002:G98R;ENSP00000410347:G284R	ENSP00000365002:G98R	G	-	1	0	ABHD16A	31765842	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.008000	0.63991	2.536000	0.85505	0.655000	0.94253	GGA		0.547	ABHD16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076342.4			T	31657863	C	T	31657863	3	4	765	1	0	0	0	0	1	0	0	0	1324	603	21	2	767	2	BAT5	6	31657863	Missense_Mutation	SNP	C	TCGA-MH-A562-01A-11D-A26P-10	2014614	31657863	139457204	26	45146											
GRB10	2887	hgsc.bcm.edu	37	7	50742288	50742288	+	Silent	SNP	G	G	A			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr7:50742288G>A	ENST00000401949.1	-	6	676	c.207C>T	c.(205-207)gcC>gcT	p.A69A	GRB10_ENST00000357271.5_Silent_p.A69A|GRB10_ENST00000407526.1_Silent_p.A11A|GRB10_ENST00000406641.1_Silent_p.A11A|GRB10_ENST00000439599.1_Silent_p.A63A|GRB10_ENST00000402497.1_Silent_p.A11A|GRB10_ENST00000402578.1_Silent_p.A11A|GRB10_ENST00000398812.2_Silent_p.A69A|GRB10_ENST00000335866.3_Silent_p.A11A|GRB10_ENST00000403097.1_Silent_p.A63A|GRB10_ENST00000398810.2_Silent_p.A11A			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	69					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)					GCATGCTGCAGGCCGAGTACA	0.587									Russell-Silver syndrome																																							0													57	63	61					7																	50742288		2066	4214	6280	SO:0001819	synonymous_variant	2887	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism		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.207C>T	chr7.hg19:g.50742288G>A			A4D258|A7VJ95|A8K0E6|D3DVM9|O00427|O00701|O75222|Q92606|Q92907|Q92948	Silent	SNP	ENST00000401949.1	hg19	CCDS43582.1																																																																																				0.587	GRB10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319157.1			A	50742288	G	A	50742288	2	1	765	1	0	0	0	0	0	0	0	1	6758	987	35	2		2	GRB10	7	50742288	Silent	SNP	G	TCGA-MH-A562-01A-11D-A26P-10		50742288	108396375	27	45147											
WDR91	29062	hgsc.bcm.edu	37	7	134893687	134893687	+	Missense_Mutation	SNP	C	C	A			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr7:134893687C>A	ENST00000354475.4	-	3	398	c.367G>T	c.(367-369)Gct>Tct	p.A123S	WDR91_ENST00000485942.1_5'Flank|WDR91_ENST00000344400.5_Missense_Mutation_p.A123S|WDR91_ENST00000423565.1_Missense_Mutation_p.A88S	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	123										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						TTCCACTCAGCCTGGTTCTGG	0.537																																																0													184	155	165					7																	134893687		2203	4300	6503	SO:0001583	missense	29062			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.367G>T	chr7.hg19:g.134893687C>A	ENSP00000346466:p.Ala123Ser		A6NK54|C9JMI4|Q6FI65|Q6MZQ1|Q6P4I1|Q96AE5|Q96G63|Q9H062|Q9H9B6|Q9NVG7|Q9NZY6	Missense_Mutation	SNP	ENST00000354475.4	hg19	CCDS34758.1	.	.	.	.	.	.	.	.	.	.	C	10.92	1.488114	0.26686	.	.	ENSG00000105875	ENST00000344400;ENST00000354475;ENST00000423565	D;D;D	0.91521	-2.86;-2.86;-2.86	5.77	4.89	0.63831	.	0.145674	0.64402	D	0.000009	D	0.82733	0.5101	N	0.25890	0.77	0.58432	D	0.999999	P	0.41524	0.753	B	0.35278	0.199	T	0.81028	-0.1118	10	0.18276	T	0.48	-19.4769	15.1712	0.72875	0.0:0.9322:0.0:0.0678	.	123	A4D1P6	WDR91_HUMAN	S	123;123;88	ENSP00000340877:A123S;ENSP00000346466:A123S;ENSP00000392555:A88S	ENSP00000340877:A123S	A	-	1	0	WDR91	134544227	1.000000	0.71417	0.998000	0.56505	0.041000	0.13682	4.739000	0.62080	1.587000	0.49959	-0.145000	0.13849	GCT		0.537	WDR91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340019.1	NM_014149		A	134893687	C	A	134893687	3	1	765	1	0	0	0	0	1	0	0	0	17343	739	26	4	1928	4	WDR91	7	134893687	Missense_Mutation	SNP	C	TCGA-MH-A562-01A-11D-A26P-10	84151399	134893687	24244976	28	45148											
ZFHX4	79776	hgsc.bcm.edu	37	8	77616434	77616434	+	Silent	SNP	G	G	A			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr8:77616434G>A	ENST00000521891.2	+	2	559	c.111G>A	c.(109-111)ggG>ggA	p.G37G	ZFHX4_ENST00000518282.1_Silent_p.G37G|ZFHX4_ENST00000455469.2_Silent_p.G37G|ZFHX4_ENST00000050961.6_Silent_p.G37G|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	37					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)			AAGTTGCAGGGATGGAGCCTG	0.502										HNSCC(33;0.089)																																						0													64	67	66					8																	77616434		2025	4211	6236	SO:0001819	synonymous_variant	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.111G>A	chr8.hg19:g.77616434G>A			G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	hg19	CCDS47878.2																																																																																				0.502	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		A	77616434	G	A	77616434	2	1	765	1	0	0	0	0	0	0	0	1	17640	1161	41	2		2	ZFHX4	8	77616434	Silent	SNP	G	TCGA-MH-A562-01A-11D-A26P-10		77616434	68747588	29	45149											
NFKBIL2	4796	hgsc.bcm.edu	37	8	145654714	145654714	+	Missense_Mutation	SNP	C	C	T			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr8:145654714C>T	ENST00000409379.3	-	26	3978	c.3949G>A	c.(3949-3951)Gcc>Acc	p.A1317T	VPS28_ENST00000526054.1_5'Flank|VPS28_ENST00000526734.1_5'Flank|VPS28_ENST00000292510.4_5'Flank|VPS28_ENST00000377348.2_5'Flank|VPS28_ENST00000529182.1_5'Flank	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	1317					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						CCCTGGACGGCGCAGCCTGCG	0.706																																																0													5	5	5					8																	145654714		2056	4038	6094	SO:0001583	missense	4796				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.3949G>A	chr8.hg19:g.145654714C>T	ENSP00000386239:p.Ala1317Thr		B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Missense_Mutation	SNP	ENST00000409379.3	hg19	CCDS34968.2	.	.	.	.	.	.	.	.	.	.	c	8.974	0.973627	0.18736	.	.	ENSG00000160949	ENST00000409379;ENST00000422691	T	0.52983	0.64	5.39	0.26	0.15588	.	0.776034	0.12482	N	0.465083	T	0.35624	0.0938	L	0.47016	1.485	0.09310	N	1	B	0.20052	0.041	B	0.06405	0.002	T	0.28522	-1.0041	10	0.54805	T	0.06	-3.5453	5.4749	0.16690	0.5793:0.2411:0.0:0.1796	.	1317	Q96HA7	TONSL_HUMAN	T	1317;1316	ENSP00000386239:A1317T	ENSP00000386239:A1317T	A	-	1	0	TONSL	145625522	0.000000	0.05858	0.421000	0.26609	0.136000	0.21042	-0.691000	0.05133	0.097000	0.17492	0.511000	0.50034	GCC		0.706	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329668.2	NM_013432		T	145654714	C	T	145654714	3	4	765	1	0	0	0	0	1	0	0	0	10384	768	27	1	191	1	NFKBIL2	8	145654714	Missense_Mutation	SNP	C	TCGA-MH-A562-01A-11D-A26P-10	68038280	145654714	709308	30	45150											
OPN4	94233	hgsc.bcm.edu	37	10	88419072	88419072	+	Missense_Mutation	SNP	G	G	A			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr10:88419072G>A	ENST00000241891.5	+	5	814	c.647G>A	c.(646-648)gGg>gAg	p.G216E	OPN4_ENST00000372071.2_Missense_Mutation_p.G227E	NM_033282.3	NP_150598.1	Q9UHM6	OPN4_HUMAN	opsin 4	216					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)	p.G227V(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						GTGCCCGAGGGGTTGCTGACA	0.612																																																2	Substitution - Missense(2)	liver(2)											167	135	146					10																	88419072		2203	4300	6503	SO:0001583	missense	94233			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.647G>A	chr10.hg19:g.88419072G>A	ENSP00000241891:p.Gly216Glu		B7ZLB3|Q14D01|Q2PP22|Q8NGQ9	Missense_Mutation	SNP	ENST00000241891.5	hg19	CCDS7376.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.985781	0.93044	.	.	ENSG00000122375	ENST00000372071;ENST00000241891;ENST00000443292	T;T;T	0.70282	-0.47;-0.47;-0.47	5.15	5.15	0.70609	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.86694	0.5994	M	0.87269	2.87	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	0.89121	0.3503	10	0.87932	D	0	.	18.6376	0.91384	0.0:0.0:1.0:0.0	.	227;216;227	C9JWU6;Q9UHM6;Q9UHM6-2	.;OPN4_HUMAN;.	E	227;216;227	ENSP00000361141:G227E;ENSP00000241891:G216E;ENSP00000393132:G227E	ENSP00000241891:G216E	G	+	2	0	OPN4	88409052	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.705000	0.98719	2.397000	0.81536	0.655000	0.94253	GGG		0.612	OPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049158.2	NM_033282		A	88419072	G	A	88419072	3	1	765	1	0	0	0	0	1	0	0	0	10884	1232	43	2	702	2	OPN4	10	88419072	Missense_Mutation	SNP	G	TCGA-MH-A562-01A-11D-A26P-10		88419072	47115675	31	45151											
MUC2	4583	hgsc.bcm.edu	37	11	1093204	1093204	+	Missense_Mutation	SNP	C	C	A	rs56299570		TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr11:1093204C>A	ENST00000441003.2	+	30	5050	c.5023C>A	c.(5023-5025)Cca>Aca	p.P1675T	MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000359061.5_Missense_Mutation_p.P1642T|MUC2_ENST00000361558.6_Intron	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				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)		p.P1675T(1)|p.P1642T(1)		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)	gtccccaaccccaacagccat	0.627																																																2	Substitution - Missense(2)	kidney(2)																																								SO:0001583	missense	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.5023C>A	chr11.hg19:g.1093204C>A	ENSP00000415183:p.Pro1675Thr		Q14878	Missense_Mutation	SNP	ENST00000441003.2	hg19		.	.	.	.	.	.	.	.	.	.	C	0.954	-0.705464	0.03255	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.09073	3.02;3.53	1.75	-3.49	0.04724	.	0.575351	0.10542	U	0.662513	T	0.04092	0.0114	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45381	-0.9265	9	0.16896	T	0.51	.	6.9769	0.24681	0.6778:0.3222:0.0:0.0	rs56299570	1675	E7EUV1	.	T	1675;1642	ENSP00000415183:P1675T;ENSP00000351956:P1642T	ENSP00000351956:P1642T	P	+	1	0	MUC2	1083204	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-3.268000	0.00533	-1.450000	0.01936	0.184000	0.17185	CCA		0.627	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		A	1093204	C	A	1093204	3	1	765	1	0	0	0	0	1	0	0	0	9977	623	22	4	5141	4	MUC2	11	1093204	Missense_Mutation	SNP	C	TCGA-MH-A562-01A-11D-A26P-10		1093204	133913312	32	45152											
KCNA4	3739	hgsc.bcm.edu	37	11	30034138	30034138	+	Missense_Mutation	SNP	G	G	A			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr11:30034138G>A	ENST00000328224.6	-	2	1321	c.88C>T	c.(88-90)Cgg>Tgg	p.R30W	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	30					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)	AGCCTCTCCCGCTCCCGGGCC	0.637																																																0													58	60	59					11																	30034138		1910	4113	6023	SO:0001583	missense	3739			M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6222	protein-coding gene	gene with protein product		176266	"potassium voltage-gated channel, shaker-related subfamily, member 4-like"	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.88C>T	chr11.hg19:g.30034138G>A	ENSP00000328511:p.Arg30Trp			Missense_Mutation	SNP	ENST00000328224.6	hg19	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.988463	0.53934	.	.	ENSG00000182255	ENST00000328224	D	0.98012	-4.66	4.97	2.88	0.33553	Potassium channel, voltage dependent, Kv1.4, tandem inactivation (2);	269.221000	0.00166	N	0.000002	D	0.95290	0.8472	N	0.24115	0.695	0.47276	D	0.999375	B	0.29671	0.254	B	0.21360	0.034	T	0.80362	-0.1414	10	0.87932	D	0	.	14.4391	0.67303	0.0:0.0:0.6478:0.3522	.	30	P22459	KCNA4_HUMAN	W	30	ENSP00000328511:R30W	ENSP00000328511:R30W	R	-	1	2	KCNA4	29990714	1.000000	0.71417	0.992000	0.48379	0.963000	0.63663	0.619000	0.24388	1.065000	0.40693	0.655000	0.94253	CGG		0.637	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		A	30034138	G	A	30034138	3	1	765	1	0	0	0	0	1	0	0	0	8007	1086	38	1	1877	1	KCNA4	11	30034138	Missense_Mutation	SNP	G	TCGA-MH-A562-01A-11D-A26P-10	28940934	30034138	104972378	33	45153											
API5	8539	hgsc.bcm.edu	37	11	43350300	43350300	+	Silent	SNP	A	A	T			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr11:43350300A>T	ENST00000531273.1	+	9	1123	c.984A>T	c.(982-984)ggA>ggT	p.G328G	API5_ENST00000378852.3_Silent_p.G328G|API5_ENST00000534695.1_Intron|Y_RNA_ENST00000516843.1_RNA|API5_ENST00000455725.2_Silent_p.G317G|API5_ENST00000420461.2_Silent_p.G274G|API5_ENST00000534600.1_Silent_p.G328G|RP11-484D2.2_ENST00000526220.1_RNA			Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5	328	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						CAGAAAATGGAGAGAATGCTG	0.373																																					Pancreas(1;98 122 5625 20895 49453)											0													82	72	75					11																	43350300		2203	4300	6503	SO:0001819	synonymous_variant	8539			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.984A>T	chr11.hg19:g.43350300A>T			B4DGR0|B4DRJ2|D3DR21|O15441|Q9Y4J7	Silent	SNP	ENST00000531273.1	hg19	CCDS44572.1																																																																																				0.373	API5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389545.1	NM_006595		T	43350300	A	T	43350300	2	4	765	1	0	0	0	0	0	0	0	1	773	291	11	5		5	API5	11	43350300	Silent	SNP	A	TCGA-MH-A562-01A-11D-A26P-10	13316162	43350300	91656216	34	45154											
MCAM	4162	hgsc.bcm.edu	37	11	119185945	119185945	+	Silent	SNP	C	C	T	rs558009680		TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr11:119185945C>T	ENST00000264036.4	-	2	110	c.96G>A	c.(94-96)gcG>gcA	p.A32A	MCAM_ENST00000530144.2_5'UTR|MCAM_ENST00000392814.1_5'Flank	NM_006500.2	NP_006491.2	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	32	Ig-like V-type 1.				anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|glomerular filtration (GO:0003094)|vascular wound healing (GO:0061042)	external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		CCAGCTCAGGCGCAGGCTGCT	0.682													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15849	0.0		0.0	False		,,,				2504	0.0															0													41	37	38					11																	119185945		2199	4294	6493	SO:0001819	synonymous_variant	4162			X68264	CCDS31690.1	11q23.3	2013-01-29				ENSG00000076706		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6934	protein-coding gene	gene with protein product	"Gicerin"	155735				2602381, 10702685	Standard	XM_005271552		Approved	MUC18, CD146	uc001pwf.3	P43121		ENST00000264036.4:c.96G>A	chr11.hg19:g.119185945C>T			O95812|Q59E86|Q6PHR3|Q6ZTR2	Silent	SNP	ENST00000264036.4	hg19	CCDS31690.1																																																																																				0.682	MCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388332.2			T	119185945	C	T	119185945	2	4	765	1	0	0	0	0	0	0	0	1	9370	755	27	1		1	MCAM	11	119185945	Silent	SNP	C	TCGA-MH-A562-01A-11D-A26P-10	75835645	119185945	15820571	35	45155											
GLI1	2735	hgsc.bcm.edu	37	12	57861257	57861257	+	Missense_Mutation	SNP	C	C	A			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr12:57861257C>A	ENST00000228682.2	+	9	1145	c.1054C>A	c.(1054-1056)Cag>Aag	p.Q352K	GLI1_ENST00000543426.1_Missense_Mutation_p.Q224K|GLI1_ENST00000546141.1_Missense_Mutation_p.Q311K	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	352					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			AGCCAAGCACCAGAATCGGAC	0.547																																					Pancreas(157;841 1936 10503 41495 50368)											0													120	80	94					12																	57861257		2203	4300	6503	SO:0001583	missense	2735				CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"Zinc fingers, C2H2-type"	4317	protein-coding gene	gene with protein product		165220	"glioma-associated oncogene homolog 1 (zinc finger protein)", "glioma-associated oncogene family zinc finger 1"	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.1054C>A	chr12.hg19:g.57861257C>A	ENSP00000228682:p.Gln352Lys		D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	ENST00000228682.2	hg19	CCDS8940.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.001063	0.93227	.	.	ENSG00000111087	ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467;ENST00000443131	T;T;T;T	0.24151	1.87;1.87;1.87;1.87	4.77	4.77	0.60923	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.49916	D	0.000133	T	0.34454	0.0898	N	0.14661	0.345	0.80722	D	1	D	0.59357	0.985	D	0.68765	0.96	T	0.34601	-0.9822	10	0.87932	D	0	.	17.1156	0.86688	0.0:1.0:0.0:0.0	.	352	P08151	GLI1_HUMAN	K	224;352;311;311;224	ENSP00000437607:Q224K;ENSP00000228682:Q352K;ENSP00000441006:Q311K;ENSP00000434408:Q311K	ENSP00000228682:Q352K	Q	+	1	0	GLI1	56147524	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.578000	0.82498	2.644000	0.89710	0.655000	0.94253	CAG		0.547	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		A	57861257	C	A	57861257	3	1	765	1	0	0	0	0	1	0	0	0	6439	595	21	4	1084	4	GLI1	12	57861257	Missense_Mutation	SNP	C	TCGA-MH-A562-01A-11D-A26P-10		57861257	75990638	36	45156											
PAWR	5074	hgsc.bcm.edu	37	12	80083606	80083606	+	Missense_Mutation	SNP	G	G	A	rs369162125		TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr12:80083606G>A	ENST00000328827.4	-	2	791	c.419C>T	c.(418-420)tCg>tTg	p.S140L	RP11-530C5.1_ENST00000551995.1_lincRNA|PAWR_ENST00000547571.1_5'UTR	NM_002583.2	NP_002574.2	Q96IZ0	PAWR_HUMAN	PRKC, apoptosis, WT1, regulator	140					actin filament bundle assembly (GO:0051017)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|interleukin-2 biosynthetic process (GO:0042094)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|positive regulation of apoptotic process (GO:0043065)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|enzyme binding (GO:0019899)|leucine zipper domain binding (GO:0043522)|transcription corepressor activity (GO:0003714)			NS(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						ACTGGGGCCCGAGCTCTTGCC	0.706																																																0								G	LEU/SER	0,4392		0,0,2196	11	11	11		419	2.6	1	12		11	1,8579		0,1,4289	no	missense	PAWR	NM_002583.2	145	0,1,6485	AA,AG,GG		0.0117,0.0,0.0077	possibly-damaging	140/341	80083606	1,12971	2196	4290	6486	SO:0001583	missense	5074			U63809	CCDS31863.1	12q21.2	2013-03-07			ENSG00000177425	ENSG00000177425			8614	protein-coding gene	gene with protein product	"prostate apoptosis response-4"	601936				8943350, 9790775	Standard	NM_002583		Approved	par-4, PAR4	uc001syx.3	Q96IZ0	OTTHUMG00000170080	ENST00000328827.4:c.419C>T	chr12.hg19:g.80083606G>A	ENSP00000328088:p.Ser140Leu		O75796|Q6FHY9|Q8N700	Missense_Mutation	SNP	ENST00000328827.4	hg19	CCDS31863.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.494262	0.85069	0.0	1.17E-4	ENSG00000177425	ENST00000328827	T	0.10192	2.9	3.48	2.59	0.31030	.	0.352131	0.26887	N	0.021991	T	0.08133	0.0203	L	0.50333	1.59	0.42430	D	0.992671	P	0.35944	0.529	B	0.28305	0.088	T	0.29274	-1.0017	9	.	.	.	-1.0638	6.7459	0.23460	0.0988:0.1793:0.7219:0.0	.	140	Q96IZ0	PAWR_HUMAN	L	140	ENSP00000328088:S140L	.	S	-	2	0	PAWR	78607737	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	6.058000	0.71126	0.650000	0.30769	0.563000	0.77884	TCG		0.706	PAWR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407175.1	NM_002583		A	80083606	G	A	80083606	3	1	765	1	0	0	0	0	1	0	0	0	11479	1059	37	1	627	1	PAWR	12	80083606	Missense_Mutation	SNP	G	TCGA-MH-A562-01A-11D-A26P-10	22222349	80083606	53768289	37	45157											
P2RX2	22953	hgsc.bcm.edu	37	12	133197702	133197702	+	Missense_Mutation	SNP	C	C	T			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr12:133197702C>T	ENST00000389110.3	+	8	927	c.890C>T	c.(889-891)tCa>tTa	p.S297L	P2RX2_ENST00000343948.4_Missense_Mutation_p.S297L|P2RX2_ENST00000352418.4_Missense_Mutation_p.S225L|P2RX2_ENST00000348800.5_Missense_Mutation_p.S297L|P2RX2_ENST00000351222.4_Missense_Mutation_p.S205L|P2RX2_ENST00000449132.2_Missense_Mutation_p.S263L|P2RX2_ENST00000350048.5_Missense_Mutation_p.S273L	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 2	297					behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of hypoxic conditions in blood by carotid body chemoreceptor signaling (GO:0003029)|ion transmembrane transport (GO:0034220)|neuromuscular junction development (GO:0007528)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to hypoxia (GO:0001666)|sensory perception of sound (GO:0007605)|sensory perception of taste (GO:0050909)|skeletal muscle fiber development (GO:0048741)|urinary bladder smooth muscle contraction (GO:0014832)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|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)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|cadmium ion binding (GO:0046870)|cobalt ion binding (GO:0050897)|copper ion binding (GO:0005507)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|identical protein binding (GO:0042802)|ligand-gated ion channel activity (GO:0015276)|mercury ion binding (GO:0045340)|nickel cation binding (GO:0016151)|phosphatidylinositol binding (GO:0035091)|purinergic nucleotide receptor activity (GO:0001614)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		CCTGCCTCGTCAGGCTACAAC	0.607																																																0													103	84	90					12																	133197702		2203	4300	6503	SO:0001583	missense	22953			AF109387	CCDS31930.1, CCDS31931.1, CCDS31932.1, CCDS31933.1, CCDS31934.1, CCDS31935.1, CCDS61286.1, CCDS73548.1	12q24.33	2013-03-22			ENSG00000187848	ENSG00000187848		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	15459	protein-coding gene	gene with protein product		600844	"deafness, autosomal dominant 41"	DFNA41		10570044, 7523952, 23345450	Standard	XM_005266154		Approved	P2X2	uc001ukk.1	Q9UBL9	OTTHUMG00000168018	ENST00000389110.3:c.890C>T	chr12.hg19:g.133197702C>T	ENSP00000373762:p.Ser297Leu		A6NGB4|A6NH93|A6NHC2|A6NHU3|A6NIG9|Q6V9R6|Q9NR37|Q9NR38|Q9UHD5|Q9UHD6|Q9UHD7|Q9Y637|Q9Y638	Missense_Mutation	SNP	ENST00000389110.3	hg19	CCDS31931.1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.138279	0.56936	.	.	ENSG00000187848	ENST00000389110;ENST00000449132;ENST00000343948;ENST00000352418;ENST00000350048;ENST00000351222;ENST00000348800	T;T;T;T;T;T;T	0.04406	3.63;3.63;3.63;3.63;3.63;3.63;3.63	4.96	4.96	0.65561	.	0.120057	0.64402	D	0.000017	T	0.13628	0.0330	M	0.76002	2.32	0.28672	N	0.905593	P;P;P;D;P;P;P;P	0.53745	0.751;0.58;0.928;0.962;0.716;0.716;0.849;0.575	P;P;P;B;B;P;P;B	0.49887	0.527;0.476;0.625;0.341;0.407;0.487;0.622;0.392	T	0.01375	-1.1371	10	0.54805	T	0.06	-13.2945	16.1502	0.81611	0.0:1.0:0.0:0.0	.	297;263;205;225;273;297;297;297	Q32MC3;Q9UBL9-7;Q9UBL9-5;Q9UBL9-6;Q9UBL9-3;Q9UBL9-4;Q9UBL9;Q9UBL9-2	.;.;.;.;.;.;P2RX2_HUMAN;.	L	297;263;297;225;273;205;297	ENSP00000373762:S297L;ENSP00000405531:S263L;ENSP00000343339:S297L;ENSP00000341419:S225L;ENSP00000343904:S273L;ENSP00000344502:S205L;ENSP00000345095:S297L	ENSP00000343339:S297L	S	+	2	0	P2RX2	131707775	0.343000	0.24818	0.655000	0.29622	0.406000	0.30931	3.786000	0.55431	2.584000	0.87258	0.561000	0.74099	TCA		0.607	P2RX2-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397542.1			T	133197702	C	T	133197702	3	4	765	1	0	0	0	0	1	0	0	0	11342	838	29	2	920	2	P2RX2	12	133197702	Missense_Mutation	SNP	C	TCGA-MH-A562-01A-11D-A26P-10	53114096	133197702	654193	38	45158											
POU4F1	5457	hgsc.bcm.edu	37	13	79175599	79175599	+	Missense_Mutation	SNP	C	C	A			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr13:79175599C>A	ENST00000377208.5	-	2	1422	c.1211G>T	c.(1210-1212)tGc>tTc	p.C404F	RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606124.1_RNA|RP11-52L5.6_ENST00000607269.1_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000607205.1_RNA	NM_006237.3	NP_006228.3	Q01851	PO4F1_HUMAN	POU class 4 homeobox 1	404					axonogenesis (GO:0007409)|cell migration in hindbrain (GO:0021535)|central nervous system neuron differentiation (GO:0021953)|habenula development (GO:0021986)|innervation (GO:0060384)|mesoderm development (GO:0007498)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|peripheral nervous system neuron development (GO:0048935)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proprioception involved in equilibrioception (GO:0051355)|regulation of neurogenesis (GO:0050767)|sensory system development (GO:0048880)|suckling behavior (GO:0001967)|synapse assembly (GO:0007416)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)|ventricular compact myocardium morphogenesis (GO:0003223)	neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		TCTCTGGTTGCAAAACCACAC	0.597																																					Melanoma(109;347 2166 14574 42843)|Ovarian(81;1394 1854 22417 48351)											0													91	88	89					13																	79175599		2203	4300	6503	SO:0001583	missense	5457			X64624	CCDS31996.1	13q31.1	2011-06-20	2007-07-13		ENSG00000152192	ENSG00000152192		"Homeoboxes / POU class"	9218	protein-coding gene	gene with protein product		601632	"POU domain class 4, transcription factor 1"	BRN3A		1357630	Standard	NM_006237		Approved	RDC-1	uc001vkv.3	Q01851	OTTHUMG00000017119	ENST00000377208.5:c.1211G>T	chr13.hg19:g.79175599C>A	ENSP00000366413:p.Cys404Phe		Q14986|Q15318|Q5T227	Missense_Mutation	SNP	ENST00000377208.5	hg19	CCDS31996.1	.	.	.	.	.	.	.	.	.	.	C	16.94	3.260312	0.59431	.	.	ENSG00000152192	ENST00000377208	D	0.96232	-3.95	4.35	4.35	0.52113	Homeodomain-related (1);Homeobox (3);POU (1);Homeodomain-like (1);Homeobox, conserved site (1);	0.053289	0.85682	U	0.000000	D	0.98239	0.9417	M	0.87758	2.905	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.99560	1.0968	10	0.87932	D	0	.	16.8947	0.86097	0.0:1.0:0.0:0.0	.	404	Q01851	PO4F1_HUMAN	F	404	ENSP00000366413:C404F	ENSP00000366413:C404F	C	-	2	0	POU4F1	78073600	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.629000	0.83207	2.159000	0.67721	0.499000	0.49734	TGC		0.597	POU4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045360.3			A	79175599	C	A	79175599	3	1	765	1	0	0	0	0	1	0	0	0	12280	710	25	4	52	4	POU4F1	13	79175599	Missense_Mutation	SNP	C	TCGA-MH-A562-01A-11D-A26P-10		79175599	35994279	39	45159											
CTAGE5	4253	hgsc.bcm.edu	37	14	39815176	39815179	+	Frame_Shift_Del	DEL	CTGT	CTGT	-			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10	CTGT	CTGT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr14:39815176_39815179delCTGT	ENST00000280083.3	+	21	2214_2217	c.1900_1903delCTGT	c.(1900-1905)ctgtctfs	p.LS634fs	CTAGE5_ENST00000557038.1_Frame_Shift_Del_p.LS554fs|CTAGE5_ENST00000396165.4_Frame_Shift_Del_p.LS605fs|CTAGE5_ENST00000553352.1_Frame_Shift_Del_p.LS605fs|CTAGE5_ENST00000348007.3_Frame_Shift_Del_p.LS591fs|CTAGE5_ENST00000341502.5_Frame_Shift_Del_p.LS634fs|RP11-407N17.3_ENST00000603904.1_Frame_Shift_Del_p.LS605fs|CTAGE5_ENST00000341749.3_Frame_Shift_Del_p.LS622fs|RP11-407N17.3_ENST00000553728.1_Frame_Shift_Del_p.LS1169fs|CTAGE5_ENST00000396158.2_Frame_Shift_Del_p.LS639fs|CTAGE5_ENST00000556148.1_Frame_Shift_Del_p.LS559fs			O15320	CTGE5_HUMAN	CTAGE family, member 5	634	Pro-rich.				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)		TTCTGGTAGACTGTCTGGACCAGC	0.353																																																0																																										SO:0001589	frameshift_variant	4253			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.1900_1903delCTGT	chr14.hg19:g.39815176_39815179delCTGT	ENSP00000280083:p.Leu634fs		B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Frame_Shift_Del	DEL	ENST00000280083.3	hg19	CCDS9674.1																																																																																				0.353	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276771.2	NM_005930		-	39815179	CTGT	-	39815176	7	5	765	1	0	1	0	1	0	0	0	0	3996	564	20	0	2013	0	CTAGE5	14	39815176	Frame_Shift_Del	DEL	CTGT	TCGA-MH-A562-01A-11D-A26P-10		39815176	67534364	40	45160											
DCAF5	8816	hgsc.bcm.edu	37	14	69521317	69521317	+	Missense_Mutation	SNP	T	T	C			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr14:69521317T>C	ENST00000341516.5	-	9	2233	c.2086A>G	c.(2086-2088)Acc>Gcc	p.T696A	DCAF5_ENST00000556847.1_Missense_Mutation_p.T614A|DCAF5_ENST00000553293.1_5'Flank|DCAF5_ENST00000557386.1_Missense_Mutation_p.T695A|DCAF5_ENST00000554215.1_Missense_Mutation_p.T614A	NM_001284206.1|NM_001284207.1|NM_003861.2	NP_001271135.1|NP_001271136.1|NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	696					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|mitochondrion (GO:0005739)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						TTGTGGCTGGTTCCTGCTCTC	0.527																																																0													110	118	115					14																	69521317		2203	4300	6503	SO:0001583	missense	8816			AB058727	CCDS32106.1, CCDS61480.1, CCDS61481.1, CCDS73646.1	14q23-q24.1	2013-01-09	2009-07-17	2009-07-17				"WD repeat domain containing", "DDB1 and CUL4 associated factors"	20224	protein-coding gene	gene with protein product		603812	"WD repeat domain 22"	WDR22		9740667, 9521877	Standard	NM_003861		Approved	BCRP2, D14S1461E, BCRG2, KIAA1824	uc001xkp.3	Q96JK2		ENST00000341516.5:c.2086A>G	chr14.hg19:g.69521317T>C	ENSP00000341351:p.Thr696Ala		B2RN31|G3V4J7|O60559|Q8N3V3|Q8N3V5	Missense_Mutation	SNP	ENST00000341516.5	hg19	CCDS32106.1	.	.	.	.	.	.	.	.	.	.	T	15.58	2.875191	0.51695	.	.	ENSG00000139990	ENST00000341516;ENST00000554215;ENST00000556847;ENST00000557386	T;T;T;T	0.71461	-0.57;-0.41;-0.41;0.08	4.99	3.83	0.44106	.	0.081881	0.51477	D	0.000095	T	0.56292	0.1975	L	0.29908	0.895	0.80722	D	1	P;P	0.37864	0.61;0.476	B;B	0.35114	0.196;0.096	T	0.53056	-0.8492	10	0.33141	T	0.24	-17.9216	11.9573	0.52988	0.0:0.0:0.1454:0.8546	.	695;696	G3V4J7;Q96JK2	.;DCAF5_HUMAN	A	696;614;614;695	ENSP00000341351:T696A;ENSP00000451551:T614A;ENSP00000452052:T614A;ENSP00000451845:T695A	ENSP00000341351:T696A	T	-	1	0	DCAF5	68591070	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.462000	0.53042	0.902000	0.36520	0.459000	0.35465	ACC		0.527	DCAF5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414806.2	NM_003861		C	69521317	T	C	69521317	3	2	765	1	0	0	0	0	1	0	0	0	4275	1725	60	3	746	3	DCAF5	14	69521317	Missense_Mutation	SNP	T	TCGA-MH-A562-01A-11D-A26P-10	29706141	69521317	37828223	41	45161											
IGDCC4	57722	hgsc.bcm.edu	37	15	65684246	65684246	+	Missense_Mutation	SNP	C	C	G			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr15:65684246C>G	ENST00000352385.2	-	12	2405	c.2196G>C	c.(2194-2196)aaG>aaC	p.K732N		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	732	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						CCGTCTTGCCCTTCCACACTG	0.612																																																0													122	120	121					15																	65684246		2201	4299	6500	SO:0001583	missense	57722				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.2196G>C	chr15.hg19:g.65684246C>G	ENSP00000319623:p.Lys732Asn		Q9HCE4	Missense_Mutation	SNP	ENST00000352385.2	hg19	CCDS10206.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.416366	0.83449	.	.	ENSG00000103742	ENST00000352385;ENST00000356152	T	0.59638	0.25	5.15	4.22	0.49857	Fibronectin, type III (2);	0.055747	0.64402	D	0.000002	T	0.62708	0.2450	L	0.59436	1.845	0.48135	D	0.999599	D	0.65815	0.995	P	0.52856	0.711	T	0.64799	-0.6322	10	0.49607	T	0.09	-22.1714	12.3562	0.55176	0.0:0.9194:0.0:0.0806	.	732	Q8TDY8	IGDC4_HUMAN	N	732;461	ENSP00000319623:K732N	ENSP00000319623:K732N	K	-	3	2	IGDCC4	63471299	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	1.066000	0.30604	2.406000	0.81754	0.561000	0.74099	AAG		0.612	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962		G	65684246	C	G	65684246	3	3	765	1	0	0	0	0	1	0	0	0	7571	680	24	4	1592	4	IGDCC4	15	65684246	Missense_Mutation	SNP	C	TCGA-MH-A562-01A-11D-A26P-10		65684246	36847146	42	45162											
SGK269	79834	hgsc.bcm.edu	37	15	77472613	77472613	+	Silent	SNP	A	A	T			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr15:77472613A>T	ENST00000560626.2	-	4	2131	c.1656T>A	c.(1654-1656)acT>acA	p.T552T	PEAK1_ENST00000558305.1_Silent_p.T552T|PEAK1_ENST00000312493.4_Silent_p.T552T			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	552					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)										CAGTTCCACTAGTAATTAGTT	0.413																																																0													217	198	204					15																	77472613		1881	4115	5996	SO:0001819	synonymous_variant	0				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.1656T>A	chr15.hg19:g.77472613A>T			Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Silent	SNP	ENST00000560626.2	hg19	CCDS42062.1																																																																																				0.413	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			T	77472613	A	T	77472613	2	4	765	1	0	0	0	0	0	0	0	1	14217	407	15	5		5	SGK269	15	77472613	Silent	SNP	A	TCGA-MH-A562-01A-11D-A26P-10	11788367	77472613	25058779	43	45163											
CARHSP1	23589	hgsc.bcm.edu	37	16	8953055	8953055	+	Missense_Mutation	SNP	G	G	A			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr16:8953055G>A	ENST00000396593.2	-	2	490	c.131C>T	c.(130-132)cCc>cTc	p.P44L	CARHSP1_ENST00000562843.1_Missense_Mutation_p.P44L|RP11-77H9.2_ENST00000565934.1_RNA|CARHSP1_ENST00000567554.1_Missense_Mutation_p.P44L|CARHSP1_ENST00000311052.5_Missense_Mutation_p.P44L|CARHSP1_ENST00000567626.1_5'Flank|CARHSP1_ENST00000561530.1_Missense_Mutation_p.P44L	NM_001042476.1|NM_001278260.1|NM_001278261.1|NM_001278262.1|NM_001278263.1|NM_001278264.1|NM_001278265.1|NM_001278266.1|NM_014316.3	NP_001035941.1|NP_001265189.1|NP_001265190.1|NP_001265191.1|NP_001265192.1|NP_001265193.1|NP_001265194.1|NP_001265195.1|NP_055131.2	Q9Y2V2	CHSP1_HUMAN	calcium regulated heat stable protein 1, 24kDa	44					intracellular signal transduction (GO:0035556)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasmic exosome (RNase complex) (GO:0000177)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|P granule (GO:0043186)	DNA binding (GO:0003677)|mRNA 3'-UTR binding (GO:0003730)|phosphatase binding (GO:0019902)			endometrium(2)|lung(1)	3						CCGGCGAGTGGGCAGTGGGCT	0.652																																																0													27	23	25					16																	8953055		2195	4300	6495	SO:0001583	missense	23589			AF115345	CCDS10537.1	16p13.2	2008-02-05	2002-08-29		ENSG00000153048	ENSG00000153048			17150	protein-coding gene	gene with protein product			"calcium regulated heat stable protein 1 (24kD)"			9712905	Standard	NM_014316		Approved	CRHSP-24, CSDC1	uc031quz.1	Q9Y2V2	OTTHUMG00000129695	ENST00000396593.2:c.131C>T	chr16.hg19:g.8953055G>A	ENSP00000379838:p.Pro44Leu		B2R4C3|D3DUF5|Q2YDX5|Q9BQ53	Missense_Mutation	SNP	ENST00000396593.2	hg19	CCDS10537.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.292618	0.80914	.	.	ENSG00000153048	ENST00000396593;ENST00000311052	.	.	.	5.35	4.38	0.52667	.	0.000000	0.85682	D	0.000000	T	0.77811	0.4186	M	0.85299	2.745	0.80722	D	1	D	0.89917	1.0	D	0.64877	0.93	T	0.77389	-0.2606	9	0.19590	T	0.45	-3.558	14.7061	0.69191	0.0:0.1461:0.8539:0.0	.	44	Q9Y2V2	CHSP1_HUMAN	L	44	.	ENSP00000311847:P44L	P	-	2	0	CARHSP1	8860556	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	9.057000	0.93889	1.221000	0.43506	0.563000	0.77884	CCC		0.652	CARHSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251902.1	NM_014316		A	8953055	G	A	8953055	3	1	765	1	0	0	0	0	1	0	0	0	2655	1232	43	2	324	2	CARHSP1	16	8953055	Missense_Mutation	SNP	G	TCGA-MH-A562-01A-11D-A26P-10		8953055	81401698	44	45164											
IL4R	3566	hgsc.bcm.edu	37	16	27374134	27374134	+	Silent	SNP	G	G	A			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr16:27374134G>A	ENST00000395762.2	+	11	1720	c.1461G>A	c.(1459-1461)acG>acA	p.T487T	IL4R_ENST00000543915.2_Silent_p.T487T|IL4R_ENST00000170630.2_Silent_p.T487T|IL4R_ENST00000380922.3_Silent_p.T472T	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	487	Required for IRS1 activation and IL4- induced cell growth.				defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						GCACAGAGACGCCCCTCGTCA	0.642																																																0													91	94	93					16																	27374134		2197	4300	6497	SO:0001819	synonymous_variant	3566			X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"Interleukins and interleukin receptors", "CD molecules"	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.1461G>A	chr16.hg19:g.27374134G>A			B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Silent	SNP	ENST00000395762.2	hg19	CCDS10629.1																																																																																				0.642	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4			A	27374134	G	A	27374134	2	1	765	1	0	0	0	0	0	0	0	1	7700	1074	38	1		1	IL4R	16	27374134	Silent	SNP	G	TCGA-MH-A562-01A-11D-A26P-10	18421079	27374134	62980619	45	45165											
SETD1A	9739	hgsc.bcm.edu	37	16	30970101	30970101	+	Missense_Mutation	SNP	T	T	C			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr16:30970101T>C	ENST00000262519.8	+	2	735	c.49T>C	c.(49-51)Tgg>Cgg	p.W17R		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	17					histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						GAGCTTCCAGTGGCGGAACTA	0.557																																																0													109	105	107					16																	30970101		2197	4300	6497	SO:0001583	missense	9739			AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"Chromatin-modifying enzymes / K-methyltransferases", "RNA binding motif (RRM) containing"	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.49T>C	chr16.hg19:g.30970101T>C	ENSP00000262519:p.Trp17Arg		A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	SNP	ENST00000262519.8	hg19	CCDS32435.1	.	.	.	.	.	.	.	.	.	.	T	17.44	3.389372	0.61956	.	.	ENSG00000099381	ENST00000262519;ENST00000452917;ENST00000449974	D	0.94828	-3.53	5.1	5.1	0.69264	.	0.000000	0.64402	U	0.000001	D	0.96494	0.8856	M	0.68593	2.085	0.58432	D	0.999997	D	0.89917	1.0	D	0.87578	0.998	D	0.96642	0.9475	10	0.56958	D	0.05	.	13.8869	0.63714	0.0:0.0:0.0:1.0	.	17	O15047	SET1A_HUMAN	R	17	ENSP00000262519:W17R	ENSP00000262519:W17R	W	+	1	0	SETD1A	30877602	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.599000	0.82757	1.920000	0.55613	0.533000	0.62120	TGG		0.557	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		C	30970101	T	C	30970101	3	2	765	1	0	0	0	0	1	0	0	0	14136	1696	59	3	51	3	SETD1A	16	30970101	Missense_Mutation	SNP	T	TCGA-MH-A562-01A-11D-A26P-10	3595967	30970101	59384652	46	45166											
SALL1	6299	hgsc.bcm.edu	37	16	51171349	51171349	+	Missense_Mutation	SNP	A	A	C			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr16:51171349A>C	ENST00000251020.4	-	3	3682	c.3649T>G	c.(3649-3651)Ttc>Gtc	p.F1217V	SALL1_ENST00000566102.1_3'UTR|SALL1_ENST00000541611.1_Missense_Mutation_p.F40V|SALL1_ENST00000440970.1_Missense_Mutation_p.F1120V	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1217					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)			TCCTTCTGGAACATTTCTGGG	0.562																																					GBM(103;1352 1446 1855 4775 8890)											0													54	51	52					16																	51171349		2198	4300	6498	SO:0001583	missense	6299			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.3649T>G	chr16.hg19:g.51171349A>C	ENSP00000251020:p.Phe1217Val		Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	hg19	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	A	15.45	2.837676	0.50951	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559;ENST00000541611	T;T;T	0.47869	3.22;3.21;0.83	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.66752	0.2821	M	0.76170	2.325	0.80722	D	1	D;B	0.76494	0.999;0.372	D;B	0.78314	0.991;0.083	T	0.64188	-0.6466	10	0.20046	T	0.44	.	15.6652	0.77225	1.0:0.0:0.0:0.0	.	1217;40	Q9NSC2;F5H733	SALL1_HUMAN;.	V	1217;1120;1181;40	ENSP00000251020:F1217V;ENSP00000407914:F1120V;ENSP00000442827:F40V	ENSP00000251020:F1217V	F	-	1	0	SALL1	49728850	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.311000	0.96282	2.104000	0.64026	0.523000	0.50628	TTC		0.562	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		C	51171349	A	C	51171349	3	2	765	1	0	0	0	0	1	0	0	0	13816	43	2	5	329	5	SALL1	16	51171349	Missense_Mutation	SNP	A	TCGA-MH-A562-01A-11D-A26P-10	20201248	51171349	39183404	47	45167											
RANBP10	57610	hgsc.bcm.edu	37	16	67761787	67761787	+	Missense_Mutation	SNP	G	G	T			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr16:67761787G>T	ENST00000317506.3	-	12	1602	c.1487C>A	c.(1486-1488)cCt>cAt	p.P496H	RANBP10_ENST00000536251.1_Missense_Mutation_p.P267H|RANBP10_ENST00000411657.2_Missense_Mutation_p.P409H|RANBP10_ENST00000448631.2_Missense_Mutation_p.P470H|RANBP10_ENST00000602677.1_Missense_Mutation_p.P526H	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	496					microtubule cytoskeleton organization (GO:0000226)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		CTGCCGCCGAGGATGCCTGTC	0.622																																																0													34	31	32					16																	67761787		2198	4300	6498	SO:0001583	missense	57610			AB040897	CCDS32469.1	16q22	2008-02-05				ENSG00000141084			29285	protein-coding gene	gene with protein product		614031				14684163	Standard	NM_020850		Approved	KIAA1464	uc002eud.3	Q6VN20		ENST00000317506.3:c.1487C>A	chr16.hg19:g.67761787G>T	ENSP00000316589:p.Pro496His		A4FTY2|B4DID0|B4DQH9|E7EW27|Q9P264	Missense_Mutation	SNP	ENST00000317506.3	hg19	CCDS32469.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.057947	0.36277	.	.	ENSG00000141084	ENST00000317506;ENST00000448631;ENST00000536251;ENST00000411657	.	.	.	5.93	5.93	0.95920	.	0.631540	0.17547	N	0.170307	T	0.69006	0.3063	M	0.62723	1.935	0.80722	D	1	P;B;B	0.37573	0.6;0.006;0.012	P;B;B	0.46110	0.504;0.007;0.02	T	0.67413	-0.5677	9	0.48119	T	0.1	-12.1716	15.4231	0.75028	0.0:0.1386:0.8614:0.0	.	409;470;496	B4DID0;B4DQH9;Q6VN20	.;.;RBP10_HUMAN	H	496;470;267;409	.	ENSP00000316589:P496H	P	-	2	0	RANBP10	66319288	0.996000	0.38824	0.997000	0.53966	0.794000	0.44872	4.807000	0.62576	2.814000	0.96858	0.563000	0.77884	CCT		0.622	RANBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467896.1	NM_020850		T	67761787	G	T	67761787	3	4	765	1	0	0	0	0	1	0	0	0	13032	1000	35	4	387	4	RANBP10	16	67761787	Missense_Mutation	SNP	G	TCGA-MH-A562-01A-11D-A26P-10	16590438	67761787	22592966	48	45168											
CDK10	8558	hgsc.bcm.edu	37	16	89760632	89760632	+	Silent	SNP	C	C	T			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr16:89760632C>T	ENST00000353379.7	+	9	703	c.660C>T	c.(658-660)atC>atT	p.I220I	CDK10_ENST00000331006.8_Silent_p.I173I|CDK10_ENST00000505473.1_Silent_p.I149I	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	220	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)		CCACCAGCATCGACATGTGGT	0.632																																																0													102	78	86					16																	89760632		2198	4300	6498	SO:0001819	synonymous_variant	8558			L33264	CCDS10984.2, CCDS32514.1, CCDS32514.2	16q24.3	2011-11-08	2007-11-21		ENSG00000185324	ENSG00000185324		"Cyclin-dependent kinases"	1770	protein-coding gene	gene with protein product		603464	"cyclin-dependent kinase (CDC2-like) 10"			8208557, 8084611	Standard	NM_052988		Approved	PISSLRE	uc010cio.3	Q15131	OTTHUMG00000138049	ENST00000353379.7:c.660C>T	chr16.hg19:g.89760632C>T			A8K370|A8K8I6|A8MXU6|B3KQJ3|B7Z420|D3DX82|D3DX83|Q0VGZ7|Q15130|Q6PJC0	Silent	SNP	ENST00000353379.7	hg19	CCDS10984.2																																																																																				0.632	CDK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269925.2			T	89760632	C	T	89760632	2	4	765	1	0	0	0	0	0	0	0	1	3127	874	31	1		1	CDK10	16	89760632	Silent	SNP	C	TCGA-MH-A562-01A-11D-A26P-10	21998845	89760632	594121	49	45169											
CAMTA2	23125	hgsc.bcm.edu	37	17	4877742	4877742	+	Missense_Mutation	SNP	T	T	G			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr17:4877742T>G	ENST00000348066.3	-	12	2077	c.1954A>C	c.(1954-1956)Atg>Ctg	p.M652L	CAMTA2_ENST00000572543.1_Missense_Mutation_p.M657L|CAMTA2_ENST00000361571.5_Missense_Mutation_p.M651L|CAMTA2_ENST00000381311.5_Missense_Mutation_p.M654L|CAMTA2_ENST00000414043.3_Missense_Mutation_p.M675L|RP5-1050D4.2_ENST00000430920.1_RNA|CAMTA2_ENST00000358183.4_Missense_Mutation_p.M652L	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	652					cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						ATCTCTGCCATCCGCTTCTCC	0.597																																																0													155	119	132					17																	4877742		2203	4300	6503	SO:0001583	missense	23125			AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.1954A>C	chr17.hg19:g.4877742T>G	ENSP00000321813:p.Met652Leu		B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Missense_Mutation	SNP	ENST00000348066.3	hg19	CCDS11063.1	.	.	.	.	.	.	.	.	.	.	T	16.40	3.111402	0.56398	.	.	ENSG00000108509	ENST00000414043;ENST00000381311;ENST00000361571;ENST00000358183;ENST00000348066	T;T;T;T;T	0.27557	2.87;1.91;1.66;1.91;1.69	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.30885	0.0779	N	0.11560	0.145	0.44454	D	0.997389	B;B;P;B;P	0.43024	0.077;0.077;0.471;0.34;0.798	B;B;P;P;P	0.60236	0.045;0.152;0.65;0.448;0.871	T	0.11891	-1.0569	10	0.13108	T	0.6	-18.4138	13.2241	0.59905	0.0:0.0:0.0:1.0	.	628;675;654;652;651	B7ZM30;E7EWU5;O94983-3;O94983;O94983-4	.;.;.;CMTA2_HUMAN;.	L	675;654;651;652;652	ENSP00000412886:M675L;ENSP00000370712:M654L;ENSP00000354828:M651L;ENSP00000350910:M652L;ENSP00000321813:M652L	ENSP00000321813:M652L	M	-	1	0	CAMTA2	4818466	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.777000	0.85628	2.232000	0.73038	0.482000	0.46254	ATG		0.597	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216876.1	NM_015099		G	4877742	T	G	4877742	3	3	765	1	0	0	0	0	1	0	0	0	2616	1435	50	5	1752	5	CAMTA2	17	4877742	Missense_Mutation	SNP	T	TCGA-MH-A562-01A-11D-A26P-10		4877742	76317468	50	45170											
EZH1	2145	hgsc.bcm.edu	37	17	40880917	40880920	+	Frame_Shift_Del	DEL	AGTA	AGTA	-			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10	AGTA	AGTA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr17:40880917_40880920delAGTA	ENST00000428826.2	-	3	161_164	c.40_43delTACT	c.(40-45)tactggfs	p.YW14fs	EZH1_ENST00000590078.1_Intron|EZH1_ENST00000592743.1_Frame_Shift_Del_p.YW14fs|EZH1_ENST00000435174.1_5'UTR|EZH1_ENST00000585893.1_Frame_Shift_Del_p.YW14fs|EZH1_ENST00000415827.2_Frame_Shift_Del_p.YW14fs			Q92800	EZH1_HUMAN	enhancer of zeste 1 polycomb repressive complex 2 subunit	14					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)		TTTCTTTTCCAGTAAGTGATACAT	0.373																																																0																																										SO:0001589	frameshift_variant	2145				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.40_43delTACT	chr17.hg19:g.40880917_40880920delAGTA	ENSP00000404658:p.Tyr14fs		A6NCH6|B4DIJ1|B4DIZ7|B4DSS2|B4E3R7|O43287|Q14459|Q53XP3	Frame_Shift_Del	DEL	ENST00000428826.2	hg19	CCDS32659.1																																																																																				0.373	EZH1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452347.1	NM_001991		-	40880920	AGTA	-	40880917	7	5	765	1	0	1	0	1	0	0	0	0	5335	188	7	0	2276	0	EZH1	17	40880917	Frame_Shift_Del	DEL	AGTA	TCGA-MH-A562-01A-11D-A26P-10	36003175	40880917	40314293	51	45171											
SCRN2	90507	hgsc.bcm.edu	37	17	45916860	45916860	+	Missense_Mutation	SNP	G	G	A			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr17:45916860G>A	ENST00000290216.9	-	4	631	c.506C>T	c.(505-507)gCg>gTg	p.A169V	SCRN2_ENST00000584123.1_Missense_Mutation_p.A177V|SCRN2_ENST00000407215.3_Missense_Mutation_p.A169V	NM_001145023.1|NM_138355.3	NP_001138495.1|NP_612364.2	Q96FV2	SCRN2_HUMAN	secernin 2	169						extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						CAGCACCCACGCCTCAGTGCG	0.612																																																0													78	72	74					17																	45916860		2203	4300	6503	SO:0001583	missense	90507			BC002980	CCDS11519.1, CCDS45723.1	17q21	2008-02-05							30381	protein-coding gene	gene with protein product		614966				12221138	Standard	NM_001145023		Approved		uc002imd.3	Q96FV2		ENST00000290216.9:c.506C>T	chr17.hg19:g.45916860G>A	ENSP00000290216:p.Ala169Val		A8K3N1|B7Z8S7|E9PBV5|Q96AC3|Q9BU04	Missense_Mutation	SNP	ENST00000290216.9	hg19	CCDS11519.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.593412	0.86953	.	.	ENSG00000141295	ENST00000290216;ENST00000407215	T;T	0.17370	2.28;2.28	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.44705	0.1306	M	0.74258	2.255	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	0.42207	-0.9465	10	0.87932	D	0	-27.8264	17.8079	0.88607	0.0:0.0:1.0:0.0	.	169;169;169	E9PBV5;Q96FV2;B7Z8S7	.;SCRN2_HUMAN;.	V	169	ENSP00000290216:A169V;ENSP00000383935:A169V	ENSP00000290216:A169V	A	-	2	0	SCRN2	43271859	1.000000	0.71417	0.935000	0.37517	0.396000	0.30629	9.756000	0.98918	2.504000	0.84457	0.561000	0.74099	GCG		0.612	SCRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441383.1	NM_138355		A	45916860	G	A	45916860	3	1	765	1	0	0	0	0	1	0	0	0	13945	1087	38	1	809	1	SCRN2	17	45916860	Missense_Mutation	SNP	G	TCGA-MH-A562-01A-11D-A26P-10	5035943	45916860	35278350	52	45172											
NXPH3	11248	hgsc.bcm.edu	37	17	47656051	47656051	+	Missense_Mutation	SNP	C	C	T			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr17:47656051C>T	ENST00000328741.5	+	2	510	c.148C>T	c.(148-150)Cgg>Tgg	p.R50W	RP5-1029K10.4_ENST00000503624.1_RNA|NXPH3_ENST00000513748.1_Missense_Mutation_p.R50W	NM_007225.2	NP_009156.2	O95157	NXPH3_HUMAN	neurexophilin 3	50	II.				neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				endometrium(2)|large_intestine(3)|lung(4)|pancreas(1)|skin(2)	12	all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17)					GCCTCGGAAGCGGGGCCACAT	0.677																																																0													35	39	37					17																	47656051		2203	4299	6502	SO:0001583	missense	11248			AF043468	CCDS11550.1	17q	2008-07-03				ENSG00000182575			8077	protein-coding gene	gene with protein product		604636				9570794	Standard	NM_007225		Approved	NPH3	uc002ipa.3	O95157		ENST00000328741.5:c.148C>T	chr17.hg19:g.47656051C>T	ENSP00000329295:p.Arg50Trp		Q8NDC3|Q8TBF6|Q9ULR1	Missense_Mutation	SNP	ENST00000328741.5	hg19	CCDS11550.1	.	.	.	.	.	.	.	.	.	.	c	16.57	3.159520	0.57368	.	.	ENSG00000182575	ENST00000328741;ENST00000513748	.	.	.	4.55	3.56	0.40772	.	0.310331	0.31381	N	0.007749	T	0.34250	0.0891	N	0.08118	0	0.09310	N	1	D;D	0.89917	1.0;0.998	D;P	0.70935	0.971;0.834	T	0.07578	-1.0765	9	0.72032	D	0.01	-23.4594	7.973	0.30138	0.428:0.4299:0.1421:0.0	.	50;50	D6RGW2;O95157	.;NXPH3_HUMAN	W	50	.	ENSP00000329295:R50W	R	+	1	2	NXPH3	45011050	0.037000	0.19845	1.000000	0.80357	0.994000	0.84299	0.755000	0.26405	1.110000	0.41699	0.556000	0.70494	CGG		0.677	NXPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365143.1			T	47656051	C	T	47656051	3	4	765	1	0	0	0	0	1	0	0	0	10794	759	27	1	154	1	NXPH3	17	47656051	Missense_Mutation	SNP	C	TCGA-MH-A562-01A-11D-A26P-10	1739191	47656051	33539159	53	45173											
SCN4A	6329	hgsc.bcm.edu	37	17	62045582	62045582	+	Silent	SNP	C	C	T			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr17:62045582C>T	ENST00000435607.1	-	6	913	c.837G>A	c.(835-837)aaG>aaA	p.K279K	SCN4A_ENST00000578147.1_Silent_p.K279K	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	279					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)	AGCGCACACACTTCTGCCTCA	0.547																																																0																																										SO:0001819	synonymous_variant	6329			U24693		17q23.3	2012-02-26	2007-01-23					"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.837G>A	chr17.hg19:g.62045582C>T			Q15478|Q16447|Q7Z6B1	Silent	SNP	ENST00000435607.1	hg19	CCDS45761.1																																																																																				0.547	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		T	62045582	C	T	62045582	2	4	765	1	0	0	0	0	0	0	0	1	13926	564	20	2		2	SCN4A	17	62045582	Silent	SNP	C	TCGA-MH-A562-01A-11D-A26P-10	14389531	62045582	19149628	54	45174	483	2									
SCN4A	6329	hgsc.bcm.edu	37	17	62045585	62045585	+	Silent	SNP	C	C	T			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr17:62045585C>T	ENST00000435607.1	-	6	910	c.834G>A	c.(832-834)caG>caA	p.Q278Q	SCN4A_ENST00000578147.1_Silent_p.Q278Q	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	278					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)	GCACACACTTCTGCCTCAGGT	0.542																																																0													136	140	139					17																	62045585		2180	4283	6463	SO:0001819	synonymous_variant	6329			U24693		17q23.3	2012-02-26	2007-01-23					"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.834G>A	chr17.hg19:g.62045585C>T			Q15478|Q16447|Q7Z6B1	Silent	SNP	ENST00000435607.1	hg19	CCDS45761.1																																																																																				0.542	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		T	62045585	C	T	62045585	2	4	765	1	0	0	0	0	0	0	0	1	13926	912	32	2		2	SCN4A	17	62045585	Silent	SNP	C	TCGA-MH-A562-01A-11D-A26P-10	3	62045585	19149625	55	45175	483	2									
DENND1C	79958	hgsc.bcm.edu	37	19	6475944	6475944	+	Missense_Mutation	SNP	G	G	A			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr19:6475944G>A	ENST00000381480.2	-	11	795	c.683C>T	c.(682-684)aCc>aTc	p.T228I	DENND1C_ENST00000543576.1_Missense_Mutation_p.T184I|DENND1C_ENST00000591030.1_5'Flank	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	228	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						GACGCACGAGGTCAGCTGGGG	0.672																																																0													8	10	9					19																	6475944		2158	4249	6407	SO:0001583	missense	79958			AL713770	CCDS45938.1	19p13.3	2014-02-06	2005-08-17	2005-08-17	ENSG00000205744	ENSG00000205744		"DENN/MADD domain containing"	26225	protein-coding gene	gene with protein product		613634	"family with sequence similarity 31, member C"	FAM31C		12477932	Standard	XM_005259646		Approved	FLJ22757	uc002mfe.3	Q8IV53	OTTHUMG00000180853	ENST00000381480.2:c.683C>T	chr19.hg19:g.6475944G>A	ENSP00000370889:p.Thr228Ile		B4E051|D3PFD4|Q8NDB1|Q9H5Z2	Missense_Mutation	SNP	ENST00000381480.2	hg19	CCDS45938.1	.	.	.	.	.	.	.	.	.	.	G	32	5.166750	0.94768	.	.	ENSG00000205744	ENST00000381480;ENST00000543576	T;T	0.13089	2.62;2.62	5.31	5.31	0.75309	DENN (3);	0.054596	0.64402	D	0.000001	T	0.47040	0.1424	M	0.90870	3.155	0.50171	D	0.999858	D	0.67145	0.996	D	0.79784	0.993	T	0.58211	-0.7676	10	0.87932	D	0	-9.2935	16.4592	0.84031	0.0:0.0:1.0:0.0	.	228	Q8IV53	DEN1C_HUMAN	I	228;184	ENSP00000370889:T228I;ENSP00000437805:T184I	ENSP00000370889:T228I	T	-	2	0	DENND1C	6426944	1.000000	0.71417	0.950000	0.38849	0.890000	0.51754	8.957000	0.93082	2.498000	0.84270	0.561000	0.74099	ACC		0.672	DENND1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453332.2	NM_024898		A	6475944	G	A	6475944	3	1	765	1	0	0	0	0	1	0	0	0	4430	1261	44	2	1774	2	DENND1C	19	6475944	Missense_Mutation	SNP	G	TCGA-MH-A562-01A-11D-A26P-10		6475944	52653039	56	45176											
CYP4F22	126410	hgsc.bcm.edu	37	19	15651480	15651480	+	Silent	SNP	C	C	T			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr19:15651480C>T	ENST00000269703.3	+	8	1090	c.891C>T	c.(889-891)gcC>gcT	p.A297A	CYP4F22_ENST00000601005.2_Silent_p.A297A	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	297						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						GGCTTAAGGCCAAGCAGGGGA	0.652																																																0													52	47	49					19																	15651480		2203	4300	6503	SO:0001819	synonymous_variant	126410				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.891C>T	chr19.hg19:g.15651480C>T			Q8N8H4	Silent	SNP	ENST00000269703.3	hg19	CCDS12331.1																																																																																				0.652	CYP4F22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461338.2	NM_173483		T	15651480	C	T	15651480	2	4	765	1	0	0	0	0	0	0	0	1	4191	581	21	2		2	CYP4F22	19	15651480	Silent	SNP	C	TCGA-MH-A562-01A-11D-A26P-10	9175536	15651480	43477503	57	45177											
CAPN12	147968	hgsc.bcm.edu	37	19	39226166	39226166	+	Silent	SNP	G	G	T	rs267605468		TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr19:39226166G>T	ENST00000328867.4	-	13	1910	c.1602C>A	c.(1600-1602)atC>atA	p.I534I	CTD-2540F13.2_ENST00000602255.1_RNA|CAPN12_ENST00000601953.1_Silent_p.I385I	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	534	Domain III.				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)			GGTCTGCGCTGATCACGTCGT	0.642																																																0													38	36	37					19																	39226166		2192	4295	6487	SO:0001819	synonymous_variant	147968			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.1602C>A	chr19.hg19:g.39226166G>T				Silent	SNP	ENST00000328867.4	hg19	CCDS12519.1																																																																																				0.642	CAPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462151.1			T	39226166	G	T	39226166	2	4	765	1	0	0	0	0	0	0	0	1	2627	1280	45	4		4	CAPN12	19	39226166	Silent	SNP	G	TCGA-MH-A562-01A-11D-A26P-10	23574686	39226166	19902817	58	45178											
PSG5	5673	hgsc.bcm.edu	37	19	43689069	43689069	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr19:43689069C>A	ENST00000366175.3	-	2	425	c.295G>T	c.(295-297)Gaa>Taa	p.E99*	PSG5_ENST00000342951.6_Nonsense_Mutation_p.E99*|PSG5_ENST00000407356.1_Nonsense_Mutation_p.E99*|PSG5_ENST00000404580.1_Nonsense_Mutation_p.E99*|PSG5_ENST00000599812.1_Nonsense_Mutation_p.E99*|PSG5_ENST00000401992.1_5'UTR|PSG5_ENST00000407568.1_Nonsense_Mutation_p.E99*			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	99	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				TATACTGTTTCTCGTCCAGTG	0.438																																																0													331	309	317					19																	43689069		2203	4295	6498	SO:0001587	stop_gained	5673				CCDS12617.1	19q13.2	2013-01-29			ENSG00000204941	ENSG00000204941		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9522	protein-coding gene	gene with protein product	"pregnancy-specific beta-1 glycoprotein", "pregnancy-specific beta 1 glycoprotein"	176394				2735907	Standard	NM_002781		Approved	FL-NCA-3, PSG	uc002ovx.3	Q15238	OTTHUMG00000151539	ENST00000366175.3:c.295G>T	chr19.hg19:g.43689069C>A	ENSP00000382334:p.Glu99*		Q15239|Q96QJ1|Q9UQ75	Nonsense_Mutation	SNP	ENST00000366175.3	hg19	CCDS12617.1	.	.	.	.	.	.	.	.	.	.	N	17.25	3.342999	0.61073	.	.	ENSG00000204941	ENST00000366175;ENST00000407356;ENST00000407568;ENST00000342951;ENST00000404580;ENST00000401992	.	.	.	1.58	1.58	0.23477	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	6.6423	0.22917	0.0:1.0:0.0:0.0	.	.	.	.	X	99	.	ENSP00000344413:E99X	E	-	1	0	PSG5	48380909	0.000000	0.05858	0.161000	0.22692	0.021000	0.10359	-0.245000	0.08890	1.195000	0.43115	0.423000	0.28283	GAA		0.438	PSG5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323055.1	NM_002781		A	43689069	C	A	43689069	4	1	765	1	0	0	0	0	0	1	0	0	12663	922	32	4	728	4	PSG5	19	43689069	Nonsense_Mutation	SNP	C	TCGA-MH-A562-01A-11D-A26P-10	4462903	43689069	15439914	59	45179											
LILRB3	11025	hgsc.bcm.edu	37	19	54721052	54721052	+	Silent	SNP	G	G	T			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr19:54721052G>T	ENST00000391750.1	-	14	1942	c.1806C>A	c.(1804-1806)acC>acA	p.T602T	LILRB3_ENST00000469273.1_5'UTR|LILRA6_ENST00000419410.2_Silent_p.T603T|LILRB3_ENST00000424807.1_Silent_p.T602T|LILRA6_ENST00000391735.3_3'UTR|LILRB3_ENST00000346401.6_Silent_p.T614T|LILRA6_ENST00000440558.2_Silent_p.T602T|LILRB3_ENST00000245620.9_Silent_p.T603T|LILRB3_ENST00000407860.2_Silent_p.T619T|LILRA6_ENST00000270464.5_Silent_p.T603T			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	602					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	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)		TCCGTCTAAGGGTCAAGCTGT	0.632																																																0													104	105	105					19																	54721052		2202	4300	6502	SO:0001819	synonymous_variant	11025			U91928	CCDS33105.1, CCDS46175.1	19q13.4	2013-01-11			ENSG00000204577	ENSG00000204577		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6607	protein-coding gene	gene with protein product		604820				9278324, 9382880	Standard	NM_006864		Approved	LIR-3, HL9, ILT5, LIR3, CD85a	uc002qee.1	O75022	OTTHUMG00000066626	ENST00000391750.1:c.1806C>A	chr19.hg19:g.54721052G>T			C9J1P3|C9JIP1|O15471|Q86U49	Silent	SNP	ENST00000391750.1	hg19	CCDS33105.1																																																																																				0.632	LILRB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142844.5	NM_006864		T	54721052	G	T	54721052	2	4	765	1	0	0	0	0	0	0	0	1	8794	1219	43	4		4	LILRB3	19	54721052	Silent	SNP	G	TCGA-MH-A562-01A-11D-A26P-10	11031983	54721052	4407931	60	45180											
BCL2L1	598	hgsc.bcm.edu	37	20	30253881	30253881	+	Silent	SNP	A	A	G			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr20:30253881A>G	ENST00000307677.4	-	3	983	c.573T>C	c.(571-573)ttT>ttC	p.F191F	BCL2L1_ENST00000376055.4_Silent_p.F128F|BCL2L1_ENST00000420653.1_Silent_p.F191F|BCL2L1_ENST00000376062.2_Silent_p.F191F	NM_138578.1	NP_612815.1	Q07817	B2CL1_HUMAN	BCL2-like 1	191					apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|apoptotic process in bone marrow (GO:0071839)|cell proliferation (GO:0008283)|cellular process regulating host cell cycle in response to virus (GO:0060154)|cellular response to alkaloid (GO:0071312)|cellular response to amino acid stimulus (GO:0071230)|cellular response to gamma radiation (GO:0071480)|cytokinesis (GO:0000910)|endocytosis (GO:0006897)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fertilization (GO:0009566)|germ cell development (GO:0007281)|growth (GO:0040007)|hepatocyte apoptotic process (GO:0097284)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male gonad development (GO:0008584)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|release of cytochrome c from mitochondria (GO:0001836)|response to cycloheximide (GO:0046898)|response to cytokine (GO:0034097)|spermatogenesis (GO:0007283)|suppression by virus of host apoptotic process (GO:0019050)	Bcl-2 family protein complex (GO:0097136)|cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synapse (GO:0045202)	BH3 domain binding (GO:0051434)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_cancers(5;3.47e-06)|all_epithelial(3;1.83e-06)|Lung NSC(7;2.08e-06)|all_lung(7;3.63e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;2.97e-06)|all cancers(5;3.21e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00052)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			AGAGTTCCACAAAAGTATCCT	0.567																																					Colon(51;693 1004 1401 20431 21026)											0													84	78	80					20																	30253881		2203	4300	6503	SO:0001819	synonymous_variant	598			Z23115	CCDS13188.1, CCDS13189.1	20q11.21	2014-03-07			ENSG00000171552	ENSG00000171552		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	992	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 52"	600039				8358789	Standard	NM_001191		Approved	BCLX, BCL2L, Bcl-X, bcl-xL, bcl-xS, PPP1R52	uc002wwl.3	Q07817	OTTHUMG00000032192	ENST00000307677.4:c.573T>C	chr20.hg19:g.30253881A>G			E1P5L6|Q5CZ89|Q5TE65|Q92976	Silent	SNP	ENST00000307677.4	hg19	CCDS13189.1																																																																																				0.567	BCL2L1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078575.1	NM_138578		G	30253881	A	G	30253881	2	3	765	1	0	0	0	0	0	0	0	1	1367	127	5	3		3	BCL2L1	20	30253881	Silent	SNP	A	TCGA-MH-A562-01A-11D-A26P-10		30253881	32771639	61	45181											
ADAMTS5	11096	hgsc.bcm.edu	37	21	28305272	28305272	+	Missense_Mutation	SNP	C	C	G			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr21:28305272C>G	ENST00000284987.5	-	5	1902	c.1781G>C	c.(1780-1782)tGt>tCt	p.C594S	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	594	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				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						AGGGTTATTACAGTGACGATA	0.567																																					Esophageal Squamous(53;683 1080 10100 14424 45938)											0													152	105	121					21																	28305272		2203	4300	6503	SO:0001583	missense	11096			AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"ADAM metallopeptidases with thrombospondin type 1 motif"	221	protein-coding gene	gene with protein product	"aggrecanase-2"	605007	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.1781G>C	chr21.hg19:g.28305272C>G	ENSP00000284987:p.Cys594Ser		Q52LV4|Q9UKP2	Missense_Mutation	SNP	ENST00000284987.5	hg19	CCDS13579.1	.	.	.	.	.	.	.	.	.	.	C	33	5.248311	0.95305	.	.	ENSG00000154736	ENST00000284987	T	0.69040	-0.37	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.91778	0.7399	H	0.99922	4.955	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95071	0.8204	10	0.87932	D	0	.	20.5666	0.99351	0.0:1.0:0.0:0.0	.	594	Q9UNA0	ATS5_HUMAN	S	594	ENSP00000284987:C594S	ENSP00000284987:C594S	C	-	2	0	ADAMTS5	27227143	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.487000	0.81328	2.854000	0.98071	0.655000	0.94253	TGT		0.567	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			G	28305272	C	G	28305272	3	3	765	1	0	0	0	0	1	0	0	0	269	478	17	4	1027	4	ADAMTS5	21	28305272	Missense_Mutation	SNP	C	TCGA-MH-A562-01A-11D-A26P-10		28305272	19824623	62	45182											
SEZ6L	23544	hgsc.bcm.edu	37	22	26761491	26761491	+	Missense_Mutation	SNP	G	G	A			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr22:26761491G>A	ENST00000248933.6	+	13	2848	c.2753G>A	c.(2752-2754)gGa>gAa	p.G918E	SEZ6L_ENST00000343706.4_Intron|SEZ6L_ENST00000411842.2_Missense_Mutation_p.G115E|SEZ6L_ENST00000529632.2_Missense_Mutation_p.G918E|SEZ6L_ENST00000404234.3_Missense_Mutation_p.G918E|SEZ6L_ENST00000494013.1_3'UTR|SEZ6L_ENST00000360929.3_Missense_Mutation_p.G854E|SEZ6L_ENST00000402979.1_Missense_Mutation_p.G691E|SEZ6L_ENST00000403121.1_Intron			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	918	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TGCATCCTGGGACAGCCATCC	0.582																																																0													82	73	76					22																	26761491		2203	4300	6503	SO:0001583	missense	23544			AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"seizure related gene 6 (mouse)-like"				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.2753G>A	chr22.hg19:g.26761491G>A	ENSP00000248933:p.Gly918Glu		A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	ENST00000248933.6	hg19	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.605986	0.87157	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000402979;ENST00000411842	T;T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01;-0.01;-0.01	5.27	5.27	0.74061	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.53938	D	0.000046	T	0.80884	0.4709	M	0.80332	2.49	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	0.83060	-0.0148	10	0.87932	D	0	.	18.0747	0.89423	0.0:0.0:1.0:0.0	.	918;918;854;918;918	B7ZLJ8;B7ZLJ6;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;SE6L1_HUMAN	E	918;918;854;918;691;115	ENSP00000384772:G918E;ENSP00000437037:G918E;ENSP00000354185:G854E;ENSP00000248933:G918E;ENSP00000384733:G691E;ENSP00000397274:G115E	ENSP00000248933:G918E	G	+	2	0	SEZ6L	25091491	1.000000	0.71417	0.997000	0.53966	0.731000	0.41821	8.973000	0.93428	2.735000	0.93741	0.655000	0.94253	GGA		0.582	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			A	26761491	G	A	26761491	3	1	765	1	0	0	0	0	1	0	0	0	14149	1174	41	2	2803	2	SEZ6L	22	26761491	Missense_Mutation	SNP	G	TCGA-MH-A562-01A-11D-A26P-10		26761491	24543075	63	45183											
PLS3	5358	hgsc.bcm.edu	37	X	114880464	114880465	+	Frame_Shift_Ins	INS	-	-	A			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chrX:114880464_114880465insA	ENST00000420625.2	+	12	1469_1470	c.1335_1336insA	c.(1336-1338)aatfs	p.N446fs	PLS3_ENST00000543070.1_Frame_Shift_Ins_p.N40fs|PLS3_ENST00000289290.3_Frame_Shift_Ins_p.N410fs|PLS3_ENST00000537301.1_Frame_Shift_Ins_p.N433fs|PLS3_ENST00000355899.3_Frame_Shift_Ins_p.N446fs|PLS3_ENST00000539310.1_Frame_Shift_Ins_p.N401fs	NM_001136025.3|NM_001172335.1|NM_001282338.1	NP_001129497.1|NP_001165806.1|NP_001269267.1	P13797	PLST_HUMAN	plastin 3	446	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						GGAGTAAGGTTAATAAACCTCC	0.322																																					Colon(160;1047 1864 8490 12969 29601)											0																																										SO:0001589	frameshift_variant	5358			L05491	CCDS14568.1, CCDS65312.1	Xq23	2013-01-10	2010-02-10		ENSG00000102024	ENSG00000102024		"EF-hand domain containing"	9091	protein-coding gene	gene with protein product		300131	"plastin 3 (T isoform)"			8428952	Standard	NM_005032		Approved	T-plastin	uc004eqe.3	P13797	OTTHUMG00000022237	ENST00000420625.2:c.1337dupA	chrX.hg19:g.114880466_114880466dupA	ENSP00000398945:p.Asn446fs		A8K579|B1AQ09|B4DGB4|B7Z6M1|Q86YI6	Frame_Shift_Ins	INS	ENST00000420625.2	hg19	CCDS14568.1																																																																																				0.322	PLS3-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057976.2			A	114880465	-	A	114880464	7	5	765	1	0	1	1	0	0	0	0	0	12110	1741	61	0	1377	0	PLS3	23	114880464	Frame_Shift_Ins	INS	-	TCGA-MH-A562-01A-11D-A26P-10		114880464	40390096	64	45184											
AGTRAP	57085	hgsc.bcm.edu	37	1	11808542	11808542	+	Missense_Mutation	SNP	G	G	A			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr1:11808542G>A	ENST00000314340.5	+	4	293	c.239G>A	c.(238-240)aGc>aAc	p.S80N	AGTRAP_ENST00000376629.4_Missense_Mutation_p.S80N|AGTRAP_ENST00000452018.2_Silent_p.Q112Q|AGTRAP_ENST00000491346.1_3'UTR|AGTRAP_ENST00000510878.1_Missense_Mutation_p.A45T|AGTRAP_ENST00000376627.2_Silent_p.Q124Q|AGTRAP_ENST00000376637.3_Silent_p.Q68Q|AGTRAP_ENST00000400895.2_Silent_p.Q112Q	NM_020350.4	NP_065083.3	Q6RW13	ATRAP_HUMAN	angiotensin II receptor-associated protein	80					regulation of blood pressure (GO:0008217)|response to hypoxia (GO:0001666)	cell cortex (GO:0005938)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	angiotensin type II receptor activity (GO:0004945)		AGTRAP/BRAF(2)	endometrium(1)|lung(3)|prostate(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.46e-06)|COAD - Colon adenocarcinoma(227;0.000256)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		CCGCGGGTCAGCCTCACGGAC	0.602																																																0													125	94	105					1																	11808542		2203	4300	6503	SO:0001583	missense	57085			AF165187	CCDS136.1, CCDS30585.1, CCDS30586.1, CCDS41248.1, CCDS44056.1	1p36.22	2008-02-05			ENSG00000177674	ENSG00000177674			13539	protein-coding gene	gene with protein product		608729				11733189	Standard	NM_001040194		Approved	ATRAP	uc001asv.3	Q6RW13	OTTHUMG00000002230	ENST00000314340.5:c.239G>A	chr1.hg19:g.11808542G>A	ENSP00000319713:p.Ser80Asn		A8MVQ5|Q5SNV4|Q5SNV5|Q96AC0|Q96PL4|Q9NRW9	Missense_Mutation	SNP	ENST00000314340.5	hg19	CCDS136.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.143|3.143	-0.175891|-0.175891	0.06421|0.06421	.|.	.|.	ENSG00000177674|ENSG00000177674	ENST00000510878|ENST00000376629;ENST00000314340	.|T;T	.|0.40225	.|1.04;1.04	4.06|4.06	-8.12|-8.12	0.01078|0.01078	.|.	.|1.568190	.|0.04398	.|N	.|0.363603	T|T	0.17323|0.17323	0.0416|0.0416	.|.	.|.	.|.	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	0.12477|0.12477	-1.0546|-1.0546	5|9	0.87932|0.14656	D|T	0|0.56	4.0859|4.0859	3.1848|3.1848	0.06597|0.06597	0.3059:0.3606:0.2425:0.0911|0.3059:0.3606:0.2425:0.0911	.|.	.|80;80	.|Q6RW13-2;Q6RW13	.|.;ATRAP_HUMAN	T|N	45|80	.|ENSP00000365816:S80N;ENSP00000319713:S80N	ENSP00000422647:A45T|ENSP00000319713:S80N	A|S	+|+	1|2	0|0	AGTRAP|AGTRAP	11731129|11731129	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.004000|0.004000	0.04260|0.04260	-1.508000|-1.508000	0.02266|0.02266	-1.874000|-1.874000	0.01133|0.01133	-1.263000|-1.263000	0.01449|0.01449	GCC|AGC		0.602	AGTRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006335.1	NM_020350		A	11808542	G	A	11808542	3	1	766	1	0	0	0	0	1	0	0	0	403	971	34	2	354	2	AGTRAP	1	11808542	Missense_Mutation	SNP	G	TCGA-MH-A854-01A-11D-A34Z-10		11808542	237442079	1	45185											
ALPL	249	hgsc.bcm.edu	37	1	21890580	21890580	+	Silent	SNP	C	C	A			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr1:21890580C>A	ENST00000374840.3	+	6	769	c.519C>A	c.(517-519)acC>acA	p.T173T	ALPL_ENST00000468526.1_3'UTR|ALPL_ENST00000374832.1_Silent_p.T173T|ALPL_ENST00000539907.1_Silent_p.T96T|ALPL_ENST00000540617.1_Silent_p.T118T|ALPL_ENST00000425315.2_Silent_p.T173T	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	173					cellular response to organic cyclic compound (GO:0071407)|cementum mineralization (GO:0071529)|developmental process involved in reproduction (GO:0003006)|endochondral ossification (GO:0001958)|osteoblast differentiation (GO:0001649)|response to antibiotic (GO:0046677)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)	anchored component of membrane (GO:0031225)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)|Fospropofol(DB06716)	ACCATGCCACCCCCAGCGCCG	0.627																																																0													75	70	72					1																	21890580		2203	4300	6503	SO:0001819	synonymous_variant	249			BC021289	CCDS217.1, CCDS53274.1, CCDS53275.1	1p36.12	2008-02-05			ENSG00000162551	ENSG00000162551	3.1.3.1		438	protein-coding gene	gene with protein product		171760		HOPS		3532105, 3446011	Standard	NM_001127501		Approved	TNSALP	uc001bet.3	P05186	OTTHUMG00000002949	ENST00000374840.3:c.519C>A	chr1.hg19:g.21890580C>A			A1A4E7|B2RMP8|B7Z387|B7Z4Y6|O75090|Q2TAI7|Q59EJ7|Q5BKZ5|Q5VTG5|Q6NZI8|Q8WU32|Q9UBK0	Silent	SNP	ENST00000374840.3	hg19	CCDS217.1																																																																																				0.627	ALPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000008202.1	NM_000478		A	21890580	C	A	21890580	2	1	766	1	0	0	0	0	0	0	0	1	547	610	22	4		4	ALPL	1	21890580	Silent	SNP	C	TCGA-MH-A854-01A-11D-A34Z-10	10082038	21890580	227360041	2	45186											
KIAA0467	23334	hgsc.bcm.edu	37	1	43893320	43893320	+	Missense_Mutation	SNP	T	T	C			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr1:43893320T>C	ENST00000562955.1	+	25	3547	c.3547T>C	c.(3547-3549)Tac>Cac	p.Y1183H	SZT2_ENST00000372442.1_Missense_Mutation_p.Y341H	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1240					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						GTGTCCTGTCTACATCTACAG	0.597																																																0													60	66	64					1																	43893320		2203	4300	6503	SO:0001583	missense	23334			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.3547T>C	chr1.hg19:g.43893320T>C	ENSP00000457168:p.Tyr1183His		A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	hg19	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	T	20.6	4.016875	0.75161	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.26	5.26	0.73747	.	0.222108	0.39615	N	0.001304	T	0.61615	0.2361	M	0.63843	1.955	0.25906	N	0.983298	D	0.54964	0.969	P	0.57620	0.824	T	0.59568	-0.7430	9	0.87932	D	0	.	15.3531	0.74405	0.0:0.0:0.0:1.0	.	1183	Q5T011-5	.	H	341	.	ENSP00000361519:Y341H	Y	+	1	0	SZT2	43665907	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.185000	0.77714	2.207000	0.71202	0.533000	0.62120	TAC		0.597	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		C	43893320	T	C	43893320	3	2	766	1	0	0	0	0	1	0	0	0	8180	1522	53	3	1055	3	KIAA0467	1	43893320	Missense_Mutation	SNP	T	TCGA-MH-A854-01A-11D-A34Z-10	22002740	43893320	205357301	3	45187											
C8B	732	hgsc.bcm.edu	37	1	57409426	57409426	+	Missense_Mutation	SNP	A	A	T			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr1:57409426A>T	ENST00000371237.4	-	8	1243	c.1177T>A	c.(1177-1179)Tac>Aac	p.Y393N	C8B_ENST00000535057.1_Missense_Mutation_p.Y331N|C8B_ENST00000543257.1_Missense_Mutation_p.Y341N	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	393	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						AGACTGACGTAGACCTCTTCA	0.398																																																0													234	201	212					1																	57409426		2203	4300	6503	SO:0001583	missense	732			M16973	CCDS30730.1, CCDS60151.1, CCDS60152.1	1p32.2	2014-09-17			ENSG00000021852	ENSG00000021852		"Complement system"	1353	protein-coding gene	gene with protein product		120960					Standard	NM_000066		Approved		uc001cyp.3	P07358	OTTHUMG00000008305	ENST00000371237.4:c.1177T>A	chr1.hg19:g.57409426A>T	ENSP00000360281:p.Tyr393Asn		A1L4K7	Missense_Mutation	SNP	ENST00000371237.4	hg19	CCDS30730.1	.	.	.	.	.	.	.	.	.	.	A	12.59	1.984073	0.35036	.	.	ENSG00000021852	ENST00000371237;ENST00000543257;ENST00000535057	T;T;T	0.26223	1.91;1.92;1.75	4.59	2.17	0.27698	Membrane attack complex component/perforin (MACPF) domain (3);	0.397983	0.29246	N	0.012719	T	0.31295	0.0792	M	0.80183	2.485	0.38163	D	0.939107	P;P;P	0.42871	0.753;0.753;0.792	B;B;P	0.44860	0.332;0.332;0.462	T	0.15093	-1.0449	10	0.25106	T	0.35	-7.8974	7.3585	0.26733	0.708:0.1492:0.0:0.1428	.	341;331;393	F5H7G1;F5GY80;P07358	.;.;CO8B_HUMAN	N	393;341;331	ENSP00000360281:Y393N;ENSP00000442548:Y341N;ENSP00000440113:Y331N	ENSP00000360281:Y393N	Y	-	1	0	C8B	57182014	0.422000	0.25473	0.042000	0.18584	0.025000	0.11179	0.822000	0.27352	0.461000	0.27071	0.533000	0.62120	TAC		0.398	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022886.2			T	57409426	A	T	57409426	3	4	766	1	0	0	0	0	1	0	0	0	2419	420	15	5	618	5	C8B	1	57409426	Missense_Mutation	SNP	A	TCGA-MH-A854-01A-11D-A34Z-10	13516106	57409426	191841195	4	45188											
CCBL2	56267	hgsc.bcm.edu	37	1	89409051	89409051	+	Frame_Shift_Del	DEL	T	T	-			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr1:89409051delT	ENST00000260508.4	-	12	1534	c.1197delA	c.(1195-1197)aaafs	p.K399fs	CCBL2_ENST00000370491.3_Frame_Shift_Del_p.K365fs|CCBL2_ENST00000370485.2_3'UTR|CCBL2_ENST00000446900.2_5'UTR	NM_001008661.2	NP_001008661.1	Q6YP21	KAT3_HUMAN	cysteine conjugate-beta lyase 2	399					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|kynurenine metabolic process (GO:0070189)|L-kynurenine metabolic process (GO:0097052)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	mitochondrion (GO:0005739)	cysteine-S-conjugate beta-lyase activity (GO:0047804)|kynurenine-glyoxylate transaminase activity (GO:0047315)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|poly(A) RNA binding (GO:0044822)|pyridoxal phosphate binding (GO:0030170)			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|ovary(2)|skin(2)|soft_tissue(1)	18		Lung NSC(277;0.123)		all cancers(265;0.0117)|Epithelial(280;0.0341)		TAGTCATCCATTTCACAAACT	0.308																																																0													99	99	99					1																	89409051		2203	4300	6503	SO:0001589	frameshift_variant	56267			AF091090	CCDS30766.1, CCDS30767.1	1p22.2	2009-06-23			ENSG00000137944	ENSG00000137944			33238	protein-coding gene	gene with protein product		610656				16376499	Standard	NM_001008662		Approved	RBM1, RP11-82K18.3, KAT3	uc001dmp.2	Q6YP21	OTTHUMG00000010617	ENST00000260508.4:c.1197delA	chr1.hg19:g.89409051delT	ENSP00000260508:p.Lys399fs		B3KQ13|O95335|Q5JS27|Q5T9T7|Q5T9T8|Q6AI27|Q6ICW1|Q9BVY5	Frame_Shift_Del	DEL	ENST00000260508.4	hg19	CCDS30766.1																																																																																				0.308	CCBL2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000029300.3	NM_001008661		-	89409051	T	-	89409051	7	5	766	1	0	1	0	1	0	0	0	0	2735	1490	52	0	179	0	CCBL2	1	89409051	Frame_Shift_Del	DEL	T	TCGA-MH-A854-01A-11D-A34Z-10	31999625	89409051	159841570	5	45189	484	3									
CCBL2	56267	hgsc.bcm.edu	37	1	89409052	89409053	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	TT	TT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr1:89409052_89409053delTT	ENST00000260508.4	-	12	1532_1533	c.1195_1196delAA	c.(1195-1197)aaafs	p.K399fs	CCBL2_ENST00000370491.3_Frame_Shift_Del_p.K365fs|CCBL2_ENST00000370485.2_3'UTR|CCBL2_ENST00000446900.2_5'UTR	NM_001008661.2	NP_001008661.1	Q6YP21	KAT3_HUMAN	cysteine conjugate-beta lyase 2	399					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|kynurenine metabolic process (GO:0070189)|L-kynurenine metabolic process (GO:0097052)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	mitochondrion (GO:0005739)	cysteine-S-conjugate beta-lyase activity (GO:0047804)|kynurenine-glyoxylate transaminase activity (GO:0047315)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|poly(A) RNA binding (GO:0044822)|pyridoxal phosphate binding (GO:0030170)			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|ovary(2)|skin(2)|soft_tissue(1)	18		Lung NSC(277;0.123)		all cancers(265;0.0117)|Epithelial(280;0.0341)		AGTCATCCATTTCACAAACTTA	0.312																																																0																																										SO:0001589	frameshift_variant	56267			AF091090	CCDS30766.1, CCDS30767.1	1p22.2	2009-06-23			ENSG00000137944	ENSG00000137944			33238	protein-coding gene	gene with protein product		610656				16376499	Standard	NM_001008662		Approved	RBM1, RP11-82K18.3, KAT3	uc001dmp.2	Q6YP21	OTTHUMG00000010617	ENST00000260508.4:c.1195_1196delAA	chr1.hg19:g.89409052_89409053delTT	ENSP00000260508:p.Lys399fs		B3KQ13|O95335|Q5JS27|Q5T9T7|Q5T9T8|Q6AI27|Q6ICW1|Q9BVY5	Frame_Shift_Del	DEL	ENST00000260508.4	hg19	CCDS30766.1																																																																																				0.312	CCBL2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000029300.3	NM_001008661		-	89409053	TT	-	89409052	7	5	766	1	0	1	0	1	0	0	0	0	2735	1841	64	0	180	0	CCBL2	1	89409052	Frame_Shift_Del	DEL	TT	TCGA-MH-A854-01A-11D-A34Z-10	1	89409052	159841569	6	45190	484	3									
CCBL2	56267	hgsc.bcm.edu	37	1	89409053	89409053	+	Nonsense_Mutation	SNP	T	T	A			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr1:89409053T>A	ENST00000260508.4	-	12	1532	c.1195A>T	c.(1195-1197)Aaa>Taa	p.K399*	CCBL2_ENST00000370491.3_Nonsense_Mutation_p.K365*|CCBL2_ENST00000370485.2_3'UTR|CCBL2_ENST00000446900.2_5'UTR	NM_001008661.2	NP_001008661.1	Q6YP21	KAT3_HUMAN	cysteine conjugate-beta lyase 2	399					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|kynurenine metabolic process (GO:0070189)|L-kynurenine metabolic process (GO:0097052)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	mitochondrion (GO:0005739)	cysteine-S-conjugate beta-lyase activity (GO:0047804)|kynurenine-glyoxylate transaminase activity (GO:0047315)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|poly(A) RNA binding (GO:0044822)|pyridoxal phosphate binding (GO:0030170)			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|ovary(2)|skin(2)|soft_tissue(1)	18		Lung NSC(277;0.123)		all cancers(265;0.0117)|Epithelial(280;0.0341)		GTCATCCATTTCACAAACTTA	0.313																																																0													99	99	99					1																	89409053		2203	4300	6503	SO:0001587	stop_gained	56267			AF091090	CCDS30766.1, CCDS30767.1	1p22.2	2009-06-23			ENSG00000137944	ENSG00000137944			33238	protein-coding gene	gene with protein product		610656				16376499	Standard	NM_001008662		Approved	RBM1, RP11-82K18.3, KAT3	uc001dmp.2	Q6YP21	OTTHUMG00000010617	ENST00000260508.4:c.1195A>T	chr1.hg19:g.89409053T>A	ENSP00000260508:p.Lys399*		B3KQ13|O95335|Q5JS27|Q5T9T7|Q5T9T8|Q6AI27|Q6ICW1|Q9BVY5	Nonsense_Mutation	SNP	ENST00000260508.4	hg19	CCDS30766.1	.	.	.	.	.	.	.	.	.	.	T	38	6.926121	0.97940	.	.	ENSG00000137944	ENST00000370491;ENST00000260508	.	.	.	5.65	5.65	0.86999	.	0.046579	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.8953	12.9534	0.58413	0.0:0.0:0.1346:0.8654	.	.	.	.	X	365;399	.	ENSP00000260508:K399X	K	-	1	0	CCBL2	89181641	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.403000	0.66338	2.149000	0.67028	0.460000	0.39030	AAA		0.313	CCBL2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000029300.3	NM_001008661		A	89409053	T	A	89409053	4	1	766	1	0	0	0	0	0	1	0	0	2735	1792	62	5	181	5	CCBL2	1	89409053	Nonsense_Mutation	SNP	T	TCGA-MH-A854-01A-11D-A34Z-10	1	89409053	159841568	7	45191	484	3									
ZNF644	84146	hgsc.bcm.edu	37	1	91405923	91405923	+	Missense_Mutation	SNP	C	C	T			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr1:91405923C>T	ENST00000370440.1	-	3	1205	c.988G>A	c.(988-990)Gaa>Aaa	p.E330K	ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.E330K|ZNF644_ENST00000361321.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	330					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)		TGTAGCTCTTCATTTTGTTCT	0.358																																																0													100	99	99					1																	91405923		2203	4299	6502	SO:0001583	missense	84146			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.988G>A	chr1.hg19:g.91405923C>T	ENSP00000359469:p.Glu330Lys		A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Missense_Mutation	SNP	ENST00000370440.1	hg19	CCDS731.1	.	.	.	.	.	.	.	.	.	.	C	11.75	1.732778	0.30684	.	.	ENSG00000122482	ENST00000370440;ENST00000337393	T;T	0.00596	6.32;6.32	5.58	5.58	0.84498	.	0.230912	0.44688	D	0.000434	T	0.00524	0.0017	L	0.29908	0.895	0.46564	D	0.999104	D	0.56521	0.976	P	0.47603	0.551	D	0.85156	0.0989	10	0.72032	D	0.01	-17.5126	19.5736	0.95432	0.0:1.0:0.0:0.0	.	330	Q9H582	ZN644_HUMAN	K	330	ENSP00000359469:E330K;ENSP00000337008:E330K	ENSP00000337008:E330K	E	-	1	0	ZNF644	91178511	1.000000	0.71417	0.999000	0.59377	0.521000	0.34408	2.652000	0.46682	2.636000	0.89361	0.655000	0.94253	GAA		0.358	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	NM_032186		T	91405923	C	T	91405923	3	4	766	1	0	0	0	0	1	0	0	0	18065	835	29	2	3011	2	ZNF644	1	91405923	Missense_Mutation	SNP	C	TCGA-MH-A854-01A-11D-A34Z-10	1996870	91405923	157844698	8	45192											
OVGP1	5016	hgsc.bcm.edu	37	1	111957099	111957099	+	Missense_Mutation	SNP	T	T	C			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr1:111957099T>C	ENST00000369732.3	-	11	2079	c.2024A>G	c.(2023-2025)gAt>gGt	p.D675G		NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	675					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		GGCTTCTTCATCCACAGCAGA	0.453																																																0													66	72	70					1																	111957099		2202	4300	6502	SO:0001583	missense	5016			U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"Mucins"	8524	protein-coding gene	gene with protein product	"oviductin"	603578	"mucin 9"	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.2024A>G	chr1.hg19:g.111957099T>C	ENSP00000358747:p.Asp675Gly		A0AV19|B9EGE1|Q15841	Missense_Mutation	SNP	ENST00000369732.3	hg19	CCDS834.1	.	.	.	.	.	.	.	.	.	.	T	10.09	1.254760	0.22965	.	.	ENSG00000085465	ENST00000369732;ENST00000369728;ENST00000434331	T	0.05717	3.4	4.92	2.54	0.30619	.	22.625600	0.00748	N	0.001042	T	0.01835	0.0058	N	0.22421	0.69	0.09310	N	1	B;B	0.15719	0.014;0.005	B;B	0.12156	0.007;0.004	T	0.41378	-0.9512	10	0.72032	D	0.01	.	6.616	0.22776	0.0:0.2102:0.0:0.7898	.	675;739	Q12889;Q59HH5	OVGP1_HUMAN;.	G	675;739;483	ENSP00000358747:D675G	ENSP00000358743:D739G	D	-	2	0	OVGP1	111758622	0.000000	0.05858	0.004000	0.12327	0.364000	0.29643	0.283000	0.18846	0.418000	0.25898	0.477000	0.44152	GAT		0.453	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032461.1	NM_002557		C	111957099	T	C	111957099	3	2	766	1	0	0	0	0	1	0	0	0	11327	1435	50	3	16	3	OVGP1	1	111957099	Missense_Mutation	SNP	T	TCGA-MH-A854-01A-11D-A34Z-10	20551176	111957099	137293522	9	45193											
DDX20	11218	hgsc.bcm.edu	37	1	112299304	112299304	+	Missense_Mutation	SNP	C	C	G			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr1:112299304C>G	ENST00000369702.4	+	2	958	c.338C>G	c.(337-339)aCc>aGc	p.T113S	DDX20_ENST00000536167.1_Missense_Mutation_p.T113S|FAM212B_ENST00000412270.1_5'Flank|FAM212B_ENST00000444059.2_5'Flank	NM_007204.4	NP_009135.4	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	113	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oogenesis (GO:0048477)|positive regulation of apoptotic process (GO:0043065)|regulation of steroid biosynthetic process (GO:0050810)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|spliceosomal snRNP assembly (GO:0000387)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)|transcriptional repressor complex (GO:0017053)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACCGGGAAAACCTGTGTGTTC	0.433																																																0													113	106	108					1																	112299304		2203	4300	6503	SO:0001583	missense	11218			AF106019	CCDS842.1	1p21.1-p13.2	2008-02-05	2003-06-13		ENSG00000064703	ENSG00000064703		"DEAD-boxes"	2743	protein-coding gene	gene with protein product		606168	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 20, 103kD"			10383418	Standard	NM_007204		Approved	DP103, GEMIN3	uc001ebs.3	Q9UHI6	OTTHUMG00000011956	ENST00000369702.4:c.338C>G	chr1.hg19:g.112299304C>G	ENSP00000358716:p.Thr113Ser		B4DWV7|Q96F72|Q9NVM3|Q9UF59|Q9UIY0|Q9Y659	Missense_Mutation	SNP	ENST00000369702.4	hg19	CCDS842.1	.	.	.	.	.	.	.	.	.	.	C	32	5.118880	0.94385	.	.	ENSG00000064703	ENST00000369702;ENST00000536167	T;T	0.72505	0.88;-0.66	5.61	5.61	0.85477	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.86062	0.5843	M	0.90922	3.16	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.88501	0.3082	10	0.72032	D	0.01	-14.8317	17.412	0.87488	0.0:1.0:0.0:0.0	.	113	Q9UHI6	DDX20_HUMAN	S	113	ENSP00000358716:T113S;ENSP00000439026:T113S	ENSP00000358716:T113S	T	+	2	0	DDX20	112100827	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.770000	0.74990	2.644000	0.89710	0.561000	0.74099	ACC		0.433	DDX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033063.2	NM_007204		G	112299304	C	G	112299304	3	3	766	1	0	0	0	0	1	0	0	0	4350	507	18	4	344	4	DDX20	1	112299304	Missense_Mutation	SNP	C	TCGA-MH-A854-01A-11D-A34Z-10	342205	112299304	136951317	10	45194											
S100A16	140576	hgsc.bcm.edu	37	1	153580138	153580138	+	Missense_Mutation	SNP	G	G	C			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr1:153580138G>C	ENST00000368704.1	-	3	369	c.184C>G	c.(184-186)Ctc>Gtc	p.L62V	S100A16_ENST00000368703.2_Missense_Mutation_p.L62V|S100A16_ENST00000368705.2_Missense_Mutation_p.L62V|S100A16_ENST00000368706.4_Missense_Mutation_p.L62V|S100A16_ENST00000474991.1_5'UTR			Q96FQ6	S10AG_HUMAN	S100 calcium binding protein A16	62	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				response to calcium ion (GO:0051592)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			breast(1)|large_intestine(1)|prostate(1)	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)			TTCTGGATGAGCTTATCCGCA	0.587																																					Melanoma(71;1388 1729 37039 46098)											0													89	81	84					1																	153580138		2203	4300	6503	SO:0001583	missense	140576			BC010541	CCDS1045.1	1q21	2014-01-28			ENSG00000188643	ENSG00000188643		"S100 calcium binding proteins", "EF-hand domain containing"	20441	protein-coding gene	gene with protein product						9417904	Standard	NM_080388		Approved	S100F, DT1P1A7, MGC17528	uc001fcd.1	Q96FQ6	OTTHUMG00000013545	ENST00000368704.1:c.184C>G	chr1.hg19:g.153580138G>C	ENSP00000357693:p.Leu62Val		A8K439|D3DV52|Q5RHS6	Missense_Mutation	SNP	ENST00000368704.1	hg19	CCDS1045.1	.	.	.	.	.	.	.	.	.	.	G	16.29	3.082152	0.55861	.	.	ENSG00000188643	ENST00000368704;ENST00000368705;ENST00000368706;ENST00000368703	T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73	4.38	4.38	0.52667	S100/Calbindin-D9k, conserved site (1);EF-hand-like domain (1);	0.140645	0.33110	N	0.005273	T	0.73737	0.3625	L	0.55481	1.735	0.42070	D	0.991207	D	0.64830	0.994	D	0.70716	0.97	T	0.70597	-0.4828	10	0.30078	T	0.28	-4.9853	14.8714	0.70459	0.0:0.0:1.0:0.0	.	62	Q96FQ6	S10AG_HUMAN	V	62	ENSP00000357693:L62V;ENSP00000357694:L62V;ENSP00000357695:L62V;ENSP00000357692:L62V	ENSP00000357692:L62V	L	-	1	0	S100A16	151846762	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	3.803000	0.55560	2.462000	0.83206	0.456000	0.33151	CTC		0.587	S100A16-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037713.1	NM_080388		C	153580138	G	C	153580138	3	2	766	1	0	0	0	0	1	0	0	0	13783	971	34	4	131	4	S100A16	1	153580138	Missense_Mutation	SNP	G	TCGA-MH-A854-01A-11D-A34Z-10	41280834	153580138	95670483	11	45195											
SLC19A2	10560	hgsc.bcm.edu	37	1	169454887	169454887	+	Missense_Mutation	SNP	A	A	G			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr1:169454887A>G	ENST00000236137.5	-	1	354	c.118T>C	c.(118-120)Tac>Cac	p.Y40H	SLC19A2_ENST00000367804.4_Missense_Mutation_p.Y40H	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN	solute carrier family 19 (thiamine transporter), member 2	40					folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|thiamine transport (GO:0015888)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	folic acid transporter activity (GO:0008517)|thiamine transmembrane transporter activity (GO:0015234)|thiamine uptake transmembrane transporter activity (GO:0015403)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)				Thiamine(DB00152)	AAGAAGCCGTAGGCGCAGAGC	0.721																																																0													7	9	8					1																	169454887		2081	4110	6191	SO:0001583	missense	10560			AF135488	CCDS1280.1	1q23.3	2013-05-22			ENSG00000117479	ENSG00000117479		"Solute carriers"	10938	protein-coding gene	gene with protein product		603941		TRMA		9399900, 10391221	Standard	NM_006996		Approved	THTR1	uc001gge.4	O60779	OTTHUMG00000035452	ENST00000236137.5:c.118T>C	chr1.hg19:g.169454887A>G	ENSP00000236137:p.Tyr40His		B2R9H0|B4E1X4|Q8WV87|Q9UBL7|Q9UKJ2|Q9UN31|Q9UN43	Missense_Mutation	SNP	ENST00000236137.5	hg19	CCDS1280.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.958638	0.74016	.	.	ENSG00000117479	ENST00000236137;ENST00000367804;ENST00000367802	D;D;D	0.89552	-2.53;-2.46;-2.53	4.38	4.38	0.52667	Major facilitator superfamily domain, general substrate transporter (1);	0.068558	0.64402	D	0.000011	D	0.91821	0.7412	M	0.80422	2.495	0.43977	D	0.996660	P;D	0.59357	0.834;0.985	B;P	0.60345	0.363;0.873	D	0.93069	0.6481	9	0.62326	D	0.03	-10.2171	13.7581	0.62948	1.0:0.0:0.0:0.0	.	40;40	O60779-2;O60779	.;S19A2_HUMAN	H	40	ENSP00000236137:Y40H;ENSP00000356778:Y40H;ENSP00000356776:Y40H	ENSP00000236137:Y40H	Y	-	1	0	SLC19A2	167721511	1.000000	0.71417	1.000000	0.80357	0.331000	0.28603	6.838000	0.75359	1.821000	0.53095	0.482000	0.46254	TAC		0.721	SLC19A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086106.1	NM_006996		G	169454887	A	G	169454887	3	3	766	1	0	0	0	0	1	0	0	0	14435	420	15	3	1399	3	SLC19A2	1	169454887	Missense_Mutation	SNP	A	TCGA-MH-A854-01A-11D-A34Z-10	15874749	169454887	79795734	12	45196											
ETNK2	55224	hgsc.bcm.edu	37	1	204118891	204118892	+	Missense_Mutation	DNP	TA	TA	CG	rs377403947		TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	T|A	T|A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr1:204118891_204118892TA>CG	ENST00000367202.4	-	2	607_608	c.457_458TA>CG	c.(457-459)TAt>CGt	p.Y153R	ETNK2_ENST00000367201.3_Missense_Mutation_p.Y153R|ETNK2_ENST00000367199.2_Missense_Mutation_p.Y125R|ETNK2_ENST00000367198.2_5'Flank	NM_018208.2	NP_060678.2	Q9NVF9	EKI2_HUMAN	ethanolamine kinase 2	153					glycerophospholipid biosynthetic process (GO:0046474)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|placenta development (GO:0001890)|post-embryonic development (GO:0009791)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ethanolamine kinase activity (GO:0004305)			breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1)	7	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			CATGTACTCATAGCACAGCCCA	0.584																																																0																																										SO:0001583	missense	55224			AK001623	CCDS1442.2, CCDS73006.1	1q32.1	2008-02-05			ENSG00000143845	ENSG00000143845			25575	protein-coding gene	gene with protein product		609859				12477932	Standard	XM_005245302		Approved	FLJ10761, EKI2	uc001hao.4	Q9NVF9	OTTHUMG00000036061	ENST00000367202.4:c.457_458delinsCG	chr1.hg19:g.204118891_204118892delinsCG	ENSP00000356170:p.Tyr153Arg		B7Z7K1|Q5SXX5|Q68CK3|Q96G05	Missense_Mutation	SNP	ENST00000367202.4	hg19	CCDS1442.2																																																																																				0.584	ETNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087893.1	NM_018208		CG	204118892	TA	CG	204118891	3	2	766	1	0	0	0	0	1	0	0	0	5276	1406	49	3	730	3	ETNK2	1	204118891	Missense_Mutation	DNP	TA	TCGA-MH-A854-01A-11D-A34Z-10	34664004	204118891	45131730	13	45197											
USH2A	7399	hgsc.bcm.edu	37	1	215807830	215807830	+	Missense_Mutation	SNP	T	T	G			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr1:215807830T>G	ENST00000307340.3	-	70	15654	c.15268A>C	c.(15268-15270)Aat>Cat	p.N5090H	USH2A_ENST00000366943.2_Missense_Mutation_p.N5090H	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	5090					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)		GGGTAAACATTCAATGGAGAC	0.418										HNSCC(13;0.011)																																						0													101	103	102					1																	215807830		2203	4300	6503	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.15268A>C	chr1.hg19:g.215807830T>G	ENSP00000305941:p.Asn5090His		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	hg19	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	14.21	2.468710	0.43839	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.13196	2.62;2.61	5.74	4.61	0.57282	.	0.644992	0.13425	N	0.388859	T	0.13372	0.0324	L	0.36672	1.1	0.24098	N	0.995885	P	0.38642	0.641	B	0.37833	0.259	T	0.11036	-1.0604	10	0.59425	D	0.04	.	11.4143	0.49943	0.0:0.0705:0.0:0.9295	.	5090	O75445	USH2A_HUMAN	H	5090	ENSP00000305941:N5090H;ENSP00000355910:N5090H	ENSP00000305941:N5090H	N	-	1	0	USH2A	213874453	0.985000	0.35326	0.093000	0.20910	0.197000	0.23852	2.127000	0.42035	1.005000	0.39183	0.533000	0.62120	AAT		0.418	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		G	215807830	T	G	215807830	3	3	766	1	0	0	0	0	1	0	0	0	17041	1783	62	5	352	5	USH2A	1	215807830	Missense_Mutation	SNP	T	TCGA-MH-A854-01A-11D-A34Z-10	11688939	215807830	33442791	14	45198											
PARP1	142	hgsc.bcm.edu	37	1	226570809	226570809	+	Missense_Mutation	SNP	C	C	T			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr1:226570809C>T	ENST00000366794.5	-	8	1230	c.1087G>A	c.(1087-1089)Gcc>Acc	p.A363T		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	363					base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		GCCACGGAGGCGCTGGTTTCT	0.498								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																																								0													102	128	119					1																	226570809		2203	4300	6503	SO:0001583	missense	142			BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"Poly (ADP-ribose) polymerases"	270	protein-coding gene	gene with protein product		173870	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)", "poly (ADP-ribose) polymerase family, member 1"	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.1087G>A	chr1.hg19:g.226570809C>T	ENSP00000355759:p.Ala363Thr		B1ANJ4|Q8IUZ9	Missense_Mutation	SNP	ENST00000366794.5	hg19	CCDS1554.1	.	.	.	.	.	.	.	.	.	.	C	0.062	-1.220740	0.01530	.	.	ENSG00000143799	ENST00000366794	T	0.08896	3.04	5.26	-3.57	0.04612	.	0.543121	0.22223	N	0.062926	T	0.03011	0.0089	N	0.08118	0	0.35886	D	0.829289	B	0.02656	0.0	B	0.01281	0.0	T	0.49466	-0.8937	10	0.05833	T	0.94	.	12.1841	0.54227	0.0:0.4939:0.0:0.5061	.	363	P09874	PARP1_HUMAN	T	363	ENSP00000355759:A363T	ENSP00000355759:A363T	A	-	1	0	PARP1	224637432	0.014000	0.17966	0.001000	0.08648	0.056000	0.15407	0.261000	0.18442	-0.521000	0.06426	-0.266000	0.10368	GCC		0.498	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1	NM_001618		T	226570809	C	T	226570809	3	4	766	1	0	0	0	0	1	0	0	0	11456	768	27	1	2021	1	PARP1	1	226570809	Missense_Mutation	SNP	C	TCGA-MH-A854-01A-11D-A34Z-10	10762979	226570809	22679812	15	45199											
OBSCN	84033	hgsc.bcm.edu	37	1	228461691	228461691	+	Silent	SNP	C	C	T	rs374335072		TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr1:228461691C>T	ENST00000422127.1	+	18	5402	c.5358C>T	c.(5356-5358)agC>agT	p.S1786S	OBSCN_ENST00000359599.6_Silent_p.S633S|OBSCN_ENST00000366709.4_5'UTR|RP5-1139B12.3_ENST00000602529.1_RNA|RP5-1139B12.2_ENST00000602517.1_RNA|RP5-1139B12.3_ENST00000602947.1_RNA|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.S1786S|OBSCN_ENST00000570156.2_Silent_p.S2161S	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1786	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)				TTCTGGACAGCGCCATCTACA	0.667																																																0								T	,	1,4235		0,1,2117	18	23	21		5358,5358	-7.9	0.1	1		21	0,8424		0,0,4212	no	coding-synonymous,coding-synonymous	OBSCN	NM_001098623.1,NM_052843.2	,	0,1,6329	TT,TC,CC		0.0,0.0236,0.0079	,	1786/7969,1786/6621	228461691	1,12659	2118	4212	6330	SO:0001819	synonymous_variant	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.5358C>T	chr1.hg19:g.228461691C>T			Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	hg19	CCDS58065.1																																																																																				0.667	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		T	228461691	C	T	228461691	2	4	766	1	0	0	0	0	0	0	0	1	10814	767	27	1		1	OBSCN	1	228461691	Silent	SNP	C	TCGA-MH-A854-01A-11D-A34Z-10	1890882	228461691	20788930	16	45200											
GREB1	9687	hgsc.bcm.edu	37	2	11751041	11751041	+	Missense_Mutation	SNP	A	A	G			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr2:11751041A>G	ENST00000381486.2	+	18	3194	c.2894A>G	c.(2893-2895)gAg>gGg	p.E965G	GREB1_ENST00000234142.5_Missense_Mutation_p.E965G|GREB1_ENST00000396123.1_5'Flank	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	965						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)		GTGGCCTATGAGCGGCTGGCC	0.682																																					Ovarian(39;850 945 2785 23371 33093)											0													14	18	17					2																	11751041		2015	4146	6161	SO:0001583	missense	9687				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.2894A>G	chr2.hg19:g.11751041A>G	ENSP00000370896:p.Glu965Gly		A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	hg19	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.960016	0.74016	.	.	ENSG00000196208	ENST00000381486;ENST00000234142	T;T	0.50813	0.73;0.73	5.17	5.17	0.71159	.	0.219003	0.38897	N	0.001534	T	0.67832	0.2935	M	0.73217	2.22	0.42070	D	0.991201	D	0.89917	1.0	D	0.85130	0.997	T	0.72734	-0.4204	10	0.87932	D	0	-44.6127	15.0084	0.71530	1.0:0.0:0.0:0.0	.	965	Q4ZG55	GREB1_HUMAN	G	965	ENSP00000370896:E965G;ENSP00000234142:E965G	ENSP00000234142:E965G	E	+	2	0	GREB1	11668492	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	3.663000	0.54518	1.951000	0.56629	0.460000	0.39030	GAG		0.682	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		G	11751041	A	G	11751041	3	3	766	1	0	0	0	0	1	0	0	0	6762	304	11	3	3068	3	GREB1	2	11751041	Missense_Mutation	SNP	A	TCGA-MH-A854-01A-11D-A34Z-10		11751041	231448332	17	45201											
GKN1	56287	hgsc.bcm.edu	37	2	69207188	69207188	+	Missense_Mutation	SNP	G	G	A			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr2:69207188G>A	ENST00000377938.2	+	5	564	c.501G>A	c.(499-501)atG>atA	p.M167I		NM_019617.3	NP_062563.3	Q9NS71	GKN1_HUMAN	gastrokine 1	167					digestion (GO:0007586)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)	extracellular region (GO:0005576)|secretory granule (GO:0030141)				breast(2)|large_intestine(4)|lung(5)	11						CTGAGGAGATGCAAGGTGAGT	0.502																																																0													141	101	115					2																	69207188		2203	4300	6503	SO:0001583	missense	56287			AY139182	CCDS1891.2	2p13.3	2012-10-10			ENSG00000169605	ENSG00000169605		"BRICHOS domain containing"	23217	protein-coding gene	gene with protein product	"BRICHOS domain containing 1"	606402				12851218, 11562744	Standard	NM_019617		Approved	AMP18, CA11, BRICD1	uc002sfc.3	Q9NS71	OTTHUMG00000129574	ENST00000377938.2:c.501G>A	chr2.hg19:g.69207188G>A	ENSP00000367172:p.Met167Ile		Q8IUA9	Missense_Mutation	SNP	ENST00000377938.2	hg19	CCDS1891.2	.	.	.	.	.	.	.	.	.	.	G	0.082	-1.182600	0.01620	.	.	ENSG00000169605	ENST00000377938	T	0.39787	1.06	5.35	0.0642	0.14352	.	0.896583	0.09689	N	0.768723	T	0.16727	0.0402	N	0.04203	-0.255	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29912	-0.9996	10	0.08381	T	0.77	-3.1782	6.6465	0.22939	0.2552:0.0:0.4241:0.3207	.	167	Q9NS71	GKN1_HUMAN	I	167	ENSP00000367172:M167I	ENSP00000367172:M167I	M	+	3	0	GKN1	69060692	0.000000	0.05858	0.127000	0.21898	0.582000	0.36321	-0.098000	0.11024	-0.111000	0.12001	-1.506000	0.00953	ATG		0.502	GKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251769.2	NM_019617		A	69207188	G	A	69207188	3	1	766	1	0	0	0	0	1	0	0	0	6426	1319	46	2	519	2	GKN1	2	69207188	Missense_Mutation	SNP	G	TCGA-MH-A854-01A-11D-A34Z-10	57456147	69207188	173992185	18	45202											
KDM3A	55818	hgsc.bcm.edu	37	2	86709089	86709089	+	Missense_Mutation	SNP	T	T	G			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr2:86709089T>G	ENST00000409556.1	+	18	2914	c.2549T>G	c.(2548-2550)aTc>aGc	p.I850S	KDM3A_ENST00000542128.1_Missense_Mutation_p.I798S|KDM3A_ENST00000409064.1_Missense_Mutation_p.I850S|KDM3A_ENST00000312912.5_Missense_Mutation_p.I850S			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	850					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						AAGAATGAAATCAAATGCCTT	0.363																																					NSCLC(96;1150 1523 6936 46253 49736)											0													127	120	122					2																	86709089		2203	4300	6503	SO:0001583	missense	55818			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.2549T>G	chr2.hg19:g.86709089T>G	ENSP00000386660:p.Ile850Ser		D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Missense_Mutation	SNP	ENST00000409556.1	hg19	CCDS1990.1	.	.	.	.	.	.	.	.	.	.	T	7.548	0.662024	0.14645	.	.	ENSG00000115548	ENST00000409556;ENST00000540058;ENST00000312912;ENST00000409064;ENST00000542128	T;T;T;T	0.55930	0.49;0.49;0.49;0.5	5.8	3.36	0.38483	.	0.221574	0.38778	N	0.001577	T	0.20251	0.0487	N	0.01874	-0.695	0.29435	N	0.859551	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.09975	-1.0650	10	0.20046	T	0.44	.	5.2614	0.15576	0.3072:0.0:0.128:0.5648	.	798;850	F5H070;Q9Y4C1	.;KDM3A_HUMAN	S	850;850;850;850;798	ENSP00000386660:I850S;ENSP00000323659:I850S;ENSP00000386516:I850S;ENSP00000438324:I798S	ENSP00000323659:I850S	I	+	2	0	KDM3A	86562600	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.125000	0.42016	2.216000	0.71823	0.533000	0.62120	ATC		0.363	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252522.2	NM_018433		G	86709089	T	G	86709089	3	3	766	1	0	0	0	0	1	0	0	0	8128	1435	50	5	2611	5	KDM3A	2	86709089	Missense_Mutation	SNP	T	TCGA-MH-A854-01A-11D-A34Z-10	17501901	86709089	156490284	19	45203											
UBR3	130507	hgsc.bcm.edu	37	2	170936421	170936421	+	Missense_Mutation	SNP	G	G	A			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr2:170936421G>A	ENST00000272793.5	+	37	5347	c.5297G>A	c.(5296-5298)tGt>tAt	p.C1766Y	UBR3_ENST00000392631.1_Missense_Mutation_p.C587Y|UBR3_ENST00000418381.1_Missense_Mutation_p.C1766Y			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1766	Cys-rich.				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						AGAAAAACCTGTAGTGTCTGC	0.413																																																0													136	125	129					2																	170936421		2203	4300	6503	SO:0001583	missense	130507			AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"Ubiquitin protein ligase E3 component n-recognins"	30467	protein-coding gene	gene with protein product		613831	"zinc finger protein 650"	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.5297G>A	chr2.hg19:g.170936421G>A	ENSP00000272793:p.Cys1766Tyr		B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Missense_Mutation	SNP	ENST00000272793.5	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.8|25.8	4.675813|4.675813	0.88445|0.88445	.|.	.|.	ENSG00000144357|ENSG00000144357	ENST00000272793;ENST00000442603;ENST00000418381;ENST00000392631;ENST00000439681|ENST00000392632	T;T;T;T|.	0.71698|.	-0.59;-0.59;-0.59;-0.59|.	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83225|0.83225	0.5208|0.5208	M|M	0.84511|0.84511	2.7|2.7	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.995;0.999;0.98|.	D;D;D|.	0.83275|.	0.986;0.996;0.974|.	D|D	0.84171|0.84171	0.0434|0.0434	10|5	0.52906|.	T|.	0.07|.	.|.	19.7411|19.7411	0.96231|0.96231	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1766;587;1795|.	Q6ZT12;Q6ZT12-2;E7EVK3|.	UBR3_HUMAN;.;.|.	Y|I	1766;1795;1766;587;466|828	ENSP00000272793:C1766Y;ENSP00000396068:C1766Y;ENSP00000376408:C587Y;ENSP00000389097:C466Y|.	ENSP00000272793:C1766Y|.	C|V	+|+	2|1	0|0	UBR3|UBR3	170644667|170644667	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.476000|9.476000	0.97823|0.97823	2.653000|2.653000	0.90120|0.90120	0.650000|0.650000	0.86243|0.86243	TGT|GTA		0.413	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255290.2	NM_172070		A	170936421	G	A	170936421	3	1	766	1	0	0	0	0	1	0	0	0	16908	1377	48	2	5443	2	UBR3	2	170936421	Missense_Mutation	SNP	G	TCGA-MH-A854-01A-11D-A34Z-10	84227332	170936421	72262952	20	45204											
ALS2	57679	hgsc.bcm.edu	37	2	202625787	202625787	+	Silent	SNP	A	A	T			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr2:202625787A>T	ENST00000264276.6	-	4	1302	c.930T>A	c.(928-930)gcT>gcA	p.A310A	ALS2_ENST00000467448.1_Silent_p.A310A|ALS2_ENST00000496244.1_5'Flank	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	310					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						TTGTGATCTGAGCACTTACTG	0.458																																																0													208	196	200					2																	202625787		2071	4220	6291	SO:0001819	synonymous_variant	57679			AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"Rho guanine nucleotide exchange factors"	443	protein-coding gene	gene with protein product	"alsin"	606352	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.930T>A	chr2.hg19:g.202625787A>T			Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Silent	SNP	ENST00000264276.6	hg19	CCDS42800.1																																																																																				0.458	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919		T	202625787	A	T	202625787	2	4	766	1	0	0	0	0	0	0	0	1	550	291	11	5		5	ALS2	2	202625787	Silent	SNP	A	TCGA-MH-A854-01A-11D-A34Z-10	31689366	202625787	40573586	21	45205											
XIRP1	165904	hgsc.bcm.edu	37	3	39226976	39226976	+	Missense_Mutation	SNP	T	T	G			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr3:39226976T>G	ENST00000340369.3	-	2	4189	c.3961A>C	c.(3961-3963)Aag>Cag	p.K1321Q	XIRP1_ENST00000396251.1_3'UTR|XIRP1_ENST00000421646.1_Missense_Mutation_p.K4Q	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1321	Pro-rich.				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)		GGCTTCTTCTTTGGGGGCATG	0.607																																																0													39	46	44					3																	39226976		2195	4299	6494	SO:0001583	missense	165904			AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"cardiomyopathy associated 1"	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.3961A>C	chr3.hg19:g.39226976T>G	ENSP00000343140:p.Lys1321Gln		A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	ENST00000340369.3	hg19	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	T	7.981	0.751161	0.15778	.	.	ENSG00000168334	ENST00000340369;ENST00000421646	T;T	0.19938	3.83;2.11	4.38	0.707	0.18139	.	2.505940	0.01310	N	0.010586	T	0.12178	0.0296	N	0.22421	0.69	0.09310	N	1	B	0.22276	0.067	B	0.17433	0.018	T	0.13953	-1.0490	10	0.11182	T	0.66	.	1.3649	0.02199	0.1779:0.0999:0.1852:0.537	.	1321	Q702N8	XIRP1_HUMAN	Q	1321;4	ENSP00000343140:K1321Q;ENSP00000391645:K4Q	ENSP00000343140:K1321Q	K	-	1	0	XIRP1	39201980	0.713000	0.27926	0.148000	0.22405	0.462000	0.32619	0.540000	0.23191	0.119000	0.18210	0.533000	0.62120	AAG		0.607	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		G	39226976	T	G	39226976	3	3	766	1	0	0	0	0	1	0	0	0	17434	1850	64	5	1574	5	XIRP1	3	39226976	Missense_Mutation	SNP	T	TCGA-MH-A854-01A-11D-A34Z-10		39226976	158795454	22	45206											
CXCR6	10663	hgsc.bcm.edu	37	3	45988859	45988859	+	Missense_Mutation	SNP	C	C	G			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr3:45988859C>G	ENST00000458629.1	+	1	2349	c.886C>G	c.(886-888)Cga>Gga	p.R296G	FYCO1_ENST00000296137.2_Intron|FYCO1_ENST00000438446.1_Intron|CXCR6_ENST00000304552.4_Missense_Mutation_p.R296G|FYCO1_ENST00000535325.1_Intron|CXCR6_ENST00000457814.1_Missense_Mutation_p.R296G|CXCR6_ENST00000438735.1_Missense_Mutation_p.R296G			O00574	CXCR6_HUMAN	chemokine (C-X-C motif) receptor 6	296					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)		CCTGAAGTTTCGAAAGAACTT	0.478																																					Esophageal Squamous(63;1005 1117 15521 45762 47089)											0													113	101	105					3																	45988859		2203	4300	6503	SO:0001583	missense	10663			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.886C>G	chr3.hg19:g.45988859C>G	ENSP00000395704:p.Arg296Gly		O00575|Q9HCA5	Missense_Mutation	SNP	ENST00000458629.1	hg19	CCDS2735.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.243587	0.58995	.	.	ENSG00000172215	ENST00000438735;ENST00000304552;ENST00000458629;ENST00000457814	T;T;T;T	0.58358	0.34;0.34;0.34;0.34	5.83	3.86	0.44501	.	0.049616	0.85682	D	0.000000	T	0.64853	0.2636	M	0.68952	2.095	0.40450	D	0.980135	D	0.64830	0.994	P	0.57911	0.829	T	0.71241	-0.4651	10	0.87932	D	0	.	13.1958	0.59738	0.3957:0.6043:0.0:0.0	.	296	O00574	CXCR6_HUMAN	G	296	ENSP00000396218:R296G;ENSP00000304414:R296G;ENSP00000395704:R296G;ENSP00000396886:R296G	ENSP00000304414:R296G	R	+	1	2	CXCR6	45963863	0.092000	0.21681	0.939000	0.37840	0.975000	0.68041	0.375000	0.20518	1.454000	0.47793	-0.314000	0.08810	CGA		0.478	CXCR6-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344395.1			G	45988859	C	G	45988859	3	3	766	1	0	0	0	0	1	0	0	0	4097	876	31	4	888	4	CXCR6	3	45988859	Missense_Mutation	SNP	C	TCGA-MH-A854-01A-11D-A34Z-10	6761883	45988859	152033571	23	45207											
SLC38A3	10991	hgsc.bcm.edu	37	3	50254733	50254733	+	RNA	SNP	G	G	C			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr3:50254733G>C	ENST00000420502.1	+	0	765									solute carrier family 38, member 3											breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)		TTCTGCCCCTGGCACTGATGC	0.587																																																0													61	65	64					3																	50254733		2040	4208	6248			10991			U49082	CCDS74940.1	3p21.3	2013-05-22			ENSG00000188338	ENSG00000188338		"Solute carriers"	18044	protein-coding gene	gene with protein product		604437				10619430, 10823827	Standard	XM_006712954		Approved	G17, SN1	uc003cyn.4	Q99624	OTTHUMG00000156764		chr3.hg19:g.50254733G>C				Silent	SNP	ENST00000420502.1	hg19																																																																																					0.587	SLC38A3-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000345635.2	NM_006841		C	50254733	G	C	50254733	1	2	766	0	1	0	0	0	0	0	0	0	14611	1335	47	4		4	SLC38A3	3	50254733	RNA	SNP	G	TCGA-MH-A854-01A-11D-A34Z-10	4265874	50254733	147767697	24	45208											
CACNA2D2	9254	hgsc.bcm.edu	37	3	50416403	50416403	+	Missense_Mutation	SNP	C	C	T			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr3:50416403C>T	ENST00000479441.1	-	13	1281	c.1282G>A	c.(1282-1284)Gtg>Atg	p.V428M	CACNA2D2_ENST00000423994.2_Missense_Mutation_p.V428M|CACNA2D2_ENST00000424201.2_Missense_Mutation_p.V428M|CACNA2D2_ENST00000435965.1_Missense_Mutation_p.V428M|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.V428M|CACNA2D2_ENST00000360963.3_Missense_Mutation_p.V359M|CACNA2D2_ENST00000395083.1_Missense_Mutation_p.V428M|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.V428M			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	428	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				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)	TGCTGCCCCACGGAGAAAGTA	0.607																																																0													83	74	77					3																	50416403		2203	4300	6503	SO:0001583	missense	9254			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.1282G>A	chr3.hg19:g.50416403C>T	ENSP00000418081:p.Val428Met		A7MD15|Q9NY48|Q9UEW0|Q9Y268	Missense_Mutation	SNP	ENST00000479441.1	hg19	CCDS54588.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.412276	0.83340	.	.	ENSG00000007402	ENST00000423994;ENST00000429770;ENST00000266039;ENST00000360963;ENST00000435965;ENST00000395083;ENST00000424201;ENST00000479441	D;D;D;D;D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2;-2.2;-2.2;-2.2;-2.2	4.3	4.3	0.51218	von Willebrand factor, type A (3);	0.063724	0.64402	D	0.000008	D	0.91178	0.7221	L	0.58810	1.83	0.58432	D	0.999995	D;D	0.65815	0.995;0.982	P;P	0.61328	0.887;0.493	D	0.92409	0.5936	10	0.87932	D	0	-16.6573	17.3344	0.87276	0.0:1.0:0.0:0.0	.	428;428	Q9NY47;Q9NY47-2	CA2D2_HUMAN;.	M	428;428;428;359;428;428;428;428	ENSP00000407393:V428M;ENSP00000404631:V428M;ENSP00000266039:V428M;ENSP00000354228:V359M;ENSP00000390526:V428M;ENSP00000378519:V428M;ENSP00000390329:V428M;ENSP00000418081:V428M	ENSP00000266039:V428M	V	-	1	0	CACNA2D2	50391407	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.689000	0.68234	2.396000	0.81511	0.557000	0.71058	GTG		0.607	CACNA2D2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346457.1	NM_006030		T	50416403	C	T	50416403	3	4	766	1	0	0	0	0	1	0	0	0	2551	536	19	1	2284	1	CACNA2D2	3	50416403	Missense_Mutation	SNP	C	TCGA-MH-A854-01A-11D-A34Z-10	161670	50416403	147606027	25	45209											
STAB1	23166	hgsc.bcm.edu	37	3	52548199	52548199	+	Silent	SNP	C	C	T			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr3:52548199C>T	ENST00000321725.6	+	33	3592	c.3516C>T	c.(3514-3516)tcC>tcT	p.S1172S		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1172	FAS1 4. {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)		CCAACCGCTCCCTGGAGGCCC	0.637																																																0													68	68	68					3																	52548199		2203	4300	6503	SO:0001819	synonymous_variant	23166			AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"MS-1 antigen", "fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1", "common lymphatic endothelial and vascular endothelial receptor-1"	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.3516C>T	chr3.hg19:g.52548199C>T			A7E297|Q8IUH0|Q8IUH1|Q93072	Silent	SNP	ENST00000321725.6	hg19	CCDS33768.1																																																																																				0.637	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		T	52548199	C	T	52548199	2	4	766	1	0	0	0	0	0	0	0	1	15242	610	22	2		2	STAB1	3	52548199	Silent	SNP	C	TCGA-MH-A854-01A-11D-A34Z-10	2131796	52548199	145474231	26	45210											
NIT2	56954	hgsc.bcm.edu	37	3	100074091	100074091	+	Silent	SNP	T	T	A	rs144496756		TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr3:100074091T>A	ENST00000394140.4	+	10	901	c.810T>A	c.(808-810)gcT>gcA	p.A270A		NM_020202.4	NP_064587.1	Q9NQR4	NIT2_HUMAN	nitrilase family, member 2	270	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				asparagine metabolic process (GO:0006528)|glutamine metabolic process (GO:0006541)|oxaloacetate metabolic process (GO:0006107)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	omega-amidase activity (GO:0050152)			breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						ACCTCTATGCTGTGGAGATGA	0.378																																																0													78	77	77					3																	100074091		2203	4300	6503	SO:0001819	synonymous_variant	56954			AF284574	CCDS33806.1	3q12.3	2004-07-12			ENSG00000114021	ENSG00000114021			29878	protein-coding gene	gene with protein product						10959838	Standard	NM_020202		Approved		uc003dtv.3	Q9NQR4	OTTHUMG00000159066	ENST00000394140.4:c.810T>A	chr3.hg19:g.100074091T>A			B2R9A3|D3DN47|Q8WUF0	Silent	SNP	ENST00000394140.4	hg19	CCDS33806.1																																																																																				0.378	NIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353142.2	NM_020202		A	100074091	T	A	100074091	2	1	766	1	0	0	0	0	0	0	0	1	10436	1567	55	5		5	NIT2	3	100074091	Silent	SNP	T	TCGA-MH-A854-01A-11D-A34Z-10	47525892	100074091	97948339	27	45211											
ADCY5	111	hgsc.bcm.edu	37	3	123038548	123038548	+	Silent	SNP	G	G	A			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr3:123038548G>A	ENST00000462833.1	-	10	3441	c.2229C>T	c.(2227-2229)acC>acT	p.T743T	ADCY5_ENST00000491190.1_Silent_p.T376T|ADCY5_ENST00000309879.5_Silent_p.T393T	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	743					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)		GCTCCCTGAAGGTCAGGAGGA	0.577																																																0													87	76	79					3																	123038548		2203	4300	6503	SO:0001819	synonymous_variant	111			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.2229C>T	chr3.hg19:g.123038548G>A			B7Z8A6|Q7RTV7|Q8NFM3	Silent	SNP	ENST00000462833.1	hg19	CCDS3022.1																																																																																				0.577	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048		A	123038548	G	A	123038548	2	1	766	1	0	0	0	0	0	0	0	1	297	987	35	2		2	ADCY5	3	123038548	Silent	SNP	G	TCGA-MH-A854-01A-11D-A34Z-10	22964457	123038548	74983882	28	45212											
ZNF639	51193	hgsc.bcm.edu	37	3	179050906	179050906	+	Missense_Mutation	SNP	C	C	G	rs75079502		TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr3:179050906C>G	ENST00000326361.3	+	6	744	c.299C>G	c.(298-300)tCt>tGt	p.S100C	ZNF639_ENST00000484866.1_Missense_Mutation_p.S100C|ZNF639_ENST00000466663.1_3'UTR|ZNF639_ENST00000496856.1_Missense_Mutation_p.S100C	NM_016331.1	NP_057415.1	Q9UID6	ZN639_HUMAN	zinc finger protein 639	100					negative regulation by host of viral transcription (GO:0043922)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|transcription, DNA-templated (GO:0006351)|viral entry into host cell (GO:0046718)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein self-association (GO:0043621)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1)	16	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			actgcctTTTCTACAGGTTGG	0.353																																																0													63	58	59					3																	179050906		2203	4298	6501	SO:0001583	missense	51193			BC020500	CCDS3227.1	3q27.1	2010-03-26			ENSG00000121864	ENSG00000121864		"Zinc fingers, C2H2-type"	30950	protein-coding gene	gene with protein product	"zinc finger amplified in esophageal squamous cell carcinomas 1"					14522885	Standard	NM_016331		Approved	ANC-2H01, ZASC1	uc003fjr.1	Q9UID6	OTTHUMG00000157439	ENST00000326361.3:c.299C>G	chr3.hg19:g.179050906C>G	ENSP00000325634:p.Ser100Cys		A9X3Z9|D3DNR3	Missense_Mutation	SNP	ENST00000326361.3	hg19	CCDS3227.1	.	.	.	.	.	.	.	.	.	.	C	8.257	0.810266	0.16537	.	.	ENSG00000121864	ENST00000496856;ENST00000491818;ENST00000481587;ENST00000326361;ENST00000466264;ENST00000484866;ENST00000494234	T;T;T;T	0.03831	3.79;3.79;4.42;3.79	5.86	5.86	0.93980	.	0.861759	0.10491	N	0.668436	T	0.05410	0.0143	N	0.24115	0.695	0.23238	N	0.998063	P	0.34462	0.454	B	0.29942	0.109	T	0.40776	-0.9545	10	0.72032	D	0.01	.	16.0536	0.80779	0.0:1.0:0.0:0.0	.	100	Q9UID6	ZN639_HUMAN	C	100	ENSP00000417740:S100C;ENSP00000325634:S100C;ENSP00000419650:S100C;ENSP00000418766:S100C	ENSP00000325634:S100C	S	+	2	0	ZNF639	180533600	0.777000	0.28628	0.523000	0.27875	0.355000	0.29361	3.174000	0.50847	2.937000	0.99478	0.650000	0.86243	TCT		0.353	ZNF639-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348855.1	NM_016331		G	179050906	C	G	179050906	3	3	766	1	0	0	0	0	1	0	0	0	18061	913	32	4	309	4	ZNF639	3	179050906	Missense_Mutation	SNP	C	TCGA-MH-A854-01A-11D-A34Z-10	56012358	179050906	18971524	29	45213											
PPP1R2	5504	hgsc.bcm.edu	37	3	195251642	195251642	+	Missense_Mutation	SNP	T	T	C			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr3:195251642T>C	ENST00000328432.3	-	3	643	c.283A>G	c.(283-285)Atg>Gtg	p.M95V	RNU6ATAC24P_ENST00000516811.1_RNA	NM_006241.4	NP_006232.1	P41236	IPP2_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 2	95					generation of precursor metabolites and energy (GO:0006091)|glycogen metabolic process (GO:0005977)|negative regulation of catalytic activity (GO:0043086)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of signal transduction (GO:0009966)		protein serine/threonine phosphatase inhibitor activity (GO:0004865)			endometrium(2)|kidney(1)|large_intestine(1)|urinary_tract(2)	6	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)		Epithelial(36;2.64e-22)|all cancers(36;2.69e-20)|OV - Ovarian serous cystadenocarcinoma(49;3.52e-19)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;9.55e-05)		TCTGGCGCCATGGCTTCAGTG	0.448																																																0													108	91	97					3																	195251642		2203	4300	6503	SO:0001583	missense	5504			U68111	CCDS3309.1	3q29	2012-04-17			ENSG00000184203	ENSG00000184203	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9288	protein-coding gene	gene with protein product		601792				9126490, 8119416	Standard	XM_006713682		Approved	IPP2	uc003fup.3	P41236	OTTHUMG00000155887	ENST00000328432.3:c.283A>G	chr3.hg19:g.195251642T>C	ENSP00000328178:p.Met95Val			Missense_Mutation	SNP	ENST00000328432.3	hg19	CCDS3309.1	.	.	.	.	.	.	.	.	.	.	T	4.282	0.051444	0.08291	.	.	ENSG00000184203	ENST00000328432	.	.	.	5.46	-3.69	0.04450	.	0.286677	0.35096	N	0.003456	T	0.15305	0.0369	N	0.05230	-0.09	0.30048	N	0.812	B	0.02656	0.0	B	0.01281	0.0	T	0.33137	-0.9880	9	0.11182	T	0.66	.	9.8244	0.40903	0.0:0.1674:0.5827:0.2498	.	95	P41236	IPP2_HUMAN	V	95	.	ENSP00000328178:M95V	M	-	1	0	PPP1R2	196732931	0.317000	0.24589	0.499000	0.27577	0.039000	0.13416	-0.917000	0.04025	-0.316000	0.08690	-0.334000	0.08254	ATG		0.448	PPP1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342133.1	NM_006241		C	195251642	T	C	195251642	3	2	766	1	0	0	0	0	1	0	0	0	12375	1464	51	3	350	3	PPP1R2	3	195251642	Missense_Mutation	SNP	T	TCGA-MH-A854-01A-11D-A34Z-10	16200736	195251642	2770788	30	45214											
ADD1	118	hgsc.bcm.edu	37	4	2910285	2910285	+	Missense_Mutation	SNP	A	A	T			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr4:2910285A>T	ENST00000398129.1	+	11	1579	c.1559A>T	c.(1558-1560)cAg>cTg	p.Q520L	ADD1_ENST00000503455.2_Missense_Mutation_p.Q551L|ADD1_ENST00000513328.2_Missense_Mutation_p.Q520L|ADD1_ENST00000398125.1_Missense_Mutation_p.Q551L|ADD1_ENST00000355842.3_Missense_Mutation_p.Q520L|ADD1_ENST00000264758.7_Missense_Mutation_p.Q551L|ADD1_ENST00000446856.1_Missense_Mutation_p.Q520L|ADD1_ENST00000398123.2_Missense_Mutation_p.Q551L			P35611	ADDA_HUMAN	adducin 1 (alpha)	520					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)		GCTGGCCCTCAGTCCCAGGTT	0.572																																					Esophageal Squamous(71;505 1201 20414 34538 37449)											0													175	139	151					4																	2910285		2203	4300	6503	SO:0001583	missense	118			L07261	CCDS3363.1, CCDS3364.1, CCDS43205.1, CCDS75094.1	4p16.3	2009-04-22			ENSG00000087274	ENSG00000087274			243	protein-coding gene	gene with protein product		102680				1840603	Standard	NM_001119		Approved		uc003gfq.3	P35611	OTTHUMG00000122080	ENST00000398129.1:c.1559A>T	chr4.hg19:g.2910285A>T	ENSP00000381197:p.Gln520Leu		A2A3N8|A2A3P0|B4DI79|D3DVR3|D3DVR4|D3DVR5|Q13734|Q14729|Q16156|Q86XM2|Q9UJB6	Missense_Mutation	SNP	ENST00000398129.1	hg19	CCDS43205.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	34|34	5.322861|5.322861	0.95708|0.95708	.|.	.|.	ENSG00000087274|ENSG00000087274	ENST00000264758;ENST00000446856;ENST00000398125;ENST00000513328;ENST00000503455;ENST00000355842;ENST00000398123;ENST00000398129;ENST00000536424|ENST00000514940	T;T;T;T;T;T;T;T;T|.	0.21191|.	2.02;2.02;2.02;2.02;2.02;2.02;2.02;2.02;2.02|.	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78704|0.78704	0.4325|0.4325	M|M	0.82823|0.82823	2.61|2.61	0.80722|0.80722	D|D	1|1	D;D;D;D;P|.	0.67145|.	0.985;0.996;0.958;0.992;0.93|.	D;D;P;D;P|.	0.74348|.	0.983;0.954;0.749;0.979;0.566|.	T|T	0.80329|0.80329	-0.1428|-0.1428	10|5	0.62326|.	D|.	0.03|.	-26.831|-26.831	16.3512|16.3512	0.83208|0.83208	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	520;520;551;520;551|.	Q86XM2;P35611;P35611-3;P35611-2;A2A3N8|.	.;ADDA_HUMAN;.;.;.|.	L|C	551;520;551;520;551;520;551;520;20|257	ENSP00000264758:Q551L;ENSP00000399828:Q520L;ENSP00000381193:Q551L;ENSP00000421907:Q520L;ENSP00000423024:Q551L;ENSP00000348100:Q520L;ENSP00000381191:Q551L;ENSP00000381197:Q520L;ENSP00000438069:Q20L|.	ENSP00000264758:Q551L|.	Q|S	+|+	2|1	0|0	ADD1|ADD1	2880083|2880083	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.845000|8.845000	0.92153|0.92153	2.266000|2.266000	0.75297|0.75297	0.533000|0.533000	0.62120|0.62120	CAG|AGT		0.572	ADD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242840.1	NM_014189		T	2910285	A	T	2910285	3	4	766	1	0	0	0	0	1	0	0	0	304	188	7	5	1694	5	ADD1	4	2910285	Missense_Mutation	SNP	A	TCGA-MH-A854-01A-11D-A34Z-10		2910285	188243991	31	45215											
C4orf23	152992	hgsc.bcm.edu	37	4	8456486	8456486	+	Missense_Mutation	SNP	T	T	G			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr4:8456486T>G	ENST00000389737.4	+	6	1149	c.1149T>G	c.(1147-1149)atT>atG	p.I383M	TRMT44_ENST00000513449.2_Missense_Mutation_p.I142M|RP11-689P11.3_ENST00000515186.1_RNA	NM_152544.2	NP_689757.2	Q8IYL2	TRM44_HUMAN	tRNA methyltransferase 44 homolog (S. cerevisiae)	383					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)										GCAGAGGGATTGATGTCCGAA	0.393																																																0													126	122	123					4																	8456486		2203	4300	6503	SO:0001583	missense	152992			AK093044	CCDS3402.1, CCDS3402.2	4p16.1	2012-06-12	2012-06-12	2012-06-12	ENSG00000155275	ENSG00000155275			26653	protein-coding gene	gene with protein product	"tRNA methyltransferase 44 homolog (S. cerevisiae)"	614309	"chromosome 4 open reading frame 23", "methyltransferase like 19"	C4orf23, METTL19		21658913	Standard	NM_152544		Approved	FLJ35725, TRM44	uc003glg.2	Q8IYL2	OTTHUMG00000160935	ENST00000389737.4:c.1149T>G	chr4.hg19:g.8456486T>G	ENSP00000374387:p.Ile383Met		Q8NA95	Missense_Mutation	SNP	ENST00000389737.4	hg19	CCDS3402.2	.	.	.	.	.	.	.	.	.	.	t	17.24	3.340592	0.60963	.	.	ENSG00000155275	ENST00000513449;ENST00000389737	T;T	0.35789	1.29;1.29	4.33	-3.76	0.04359	.	0.063137	0.64402	U	0.000008	T	0.52661	0.1748	M	0.91300	3.195	0.58432	D	0.99999	P;D	0.56746	0.856;0.977	P;P	0.61477	0.858;0.889	T	0.53954	-0.8365	10	0.87932	D	0	-10.8156	3.5823	0.07958	0.2523:0.2232:0.0:0.5245	.	383;142	Q8IYL2;Q8IYL2-2	TRM44_HUMAN;.	M	142;383	ENSP00000424643:I142M;ENSP00000374387:I383M	ENSP00000374387:I383M	I	+	3	3	METTL19	8507386	0.954000	0.32549	0.962000	0.40283	0.990000	0.78478	-0.081000	0.11321	-0.892000	0.03935	0.524000	0.50904	ATT		0.393	TRMT44-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359197.2	NM_152544		G	8456486	T	G	8456486	3	3	766	1	0	0	0	0	1	0	0	0	2258	1800	63	5	1171	5	C4orf23	4	8456486	Missense_Mutation	SNP	T	TCGA-MH-A854-01A-11D-A34Z-10	5546201	8456486	182697790	32	45216											
NIPAL1	152519	hgsc.bcm.edu	37	4	48037631	48037631	+	Silent	SNP	G	G	A			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr4:48037631G>A	ENST00000295461.5	+	6	741	c.675G>A	c.(673-675)ttG>ttA	p.L225L		NM_207330.1	NP_997213.1	Q6NVV3	NIPA3_HUMAN	NIPA-like domain containing 1	225						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						TGCTGATTTTGATTGTGGCTC	0.383																																																0													117	117	117					4																	48037631		2203	4300	6503	SO:0001819	synonymous_variant	152519			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.675G>A	chr4.hg19:g.48037631G>A			B3KTB0|Q68DA9	Silent	SNP	ENST00000295461.5	hg19	CCDS3479.1																																																																																				0.383	NIPAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250491.4	NM_207330		A	48037631	G	A	48037631	2	1	766	1	0	0	0	0	0	0	0	1	10426	1281	45	2		2	NIPAL1	4	48037631	Silent	SNP	G	TCGA-MH-A854-01A-11D-A34Z-10	39581145	48037631	143116645	33	45217											
EPHA5	2044	hgsc.bcm.edu	37	4	66201790	66201790	+	Silent	SNP	A	A	G			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr4:66201790A>G	ENST00000273854.3	-	16	3312	c.2712T>C	c.(2710-2712)ccT>ccC	p.P904P	EPHA5_ENST00000511294.1_Silent_p.P905P|EPHA5_ENST00000354839.4_Silent_p.P882P|EPHA5_ENST00000432638.2_Silent_p.P741P	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	904	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						AGAGAGCAGCAGGACAATCCA	0.453										TSP Lung(17;0.13)																																						0													112	96	101					4																	66201790		2203	4299	6502	SO:0001819	synonymous_variant	2044			L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3389	protein-coding gene	gene with protein product		600004	"EphA5"			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.2712T>C	chr4.hg19:g.66201790A>G			Q7Z3F2	Silent	SNP	ENST00000273854.3	hg19	CCDS3513.1																																																																																				0.453	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		G	66201790	A	G	66201790	2	3	766	1	0	0	0	0	0	0	0	1	5172	175	7	3		3	EPHA5	4	66201790	Silent	SNP	A	TCGA-MH-A854-01A-11D-A34Z-10	18164159	66201790	124952486	34	45218											
SH3TC2	79628	hgsc.bcm.edu	37	5	148407090	148407090	+	Missense_Mutation	SNP	C	C	A			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr5:148407090C>A	ENST00000515425.1	-	11	2306	c.2205G>T	c.(2203-2205)ttG>ttT	p.L735F	SH3TC2_ENST00000394358.2_Missense_Mutation_p.L620F|SH3TC2_ENST00000538184.1_Missense_Mutation_p.L282F|SH3TC2_ENST00000513340.1_5'Flank|SH3TC2_ENST00000512049.1_Missense_Mutation_p.L728F	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	735					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)			TTGGGCAGGCCAAGGCAGAAA	0.572																																																0													61	64	63					5																	148407090		2203	4300	6503	SO:0001583	missense	79628			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.2205G>T	chr5.hg19:g.148407090C>A	ENSP00000423660:p.Leu735Phe		B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Missense_Mutation	SNP	ENST00000515425.1	hg19	CCDS4293.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.846276	0.32606	.	.	ENSG00000169247	ENST00000538184;ENST00000515425;ENST00000512049;ENST00000394358	T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38	6.16	6.16	0.99307	.	0.082696	0.51477	D	0.000086	T	0.78483	0.4290	L	0.59436	1.845	0.43814	D	0.996379	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.78314	0.991;0.972;0.972;0.972	T	0.78168	-0.2309	10	0.59425	D	0.04	-4.7214	13.9788	0.64291	0.0:0.9314:0.0:0.0686	.	620;728;735;735	C9JLC3;Q14CC0;E9PDF1;Q8TF17	.;.;.;S3TC2_HUMAN	F	282;735;728;620	ENSP00000441427:L282F;ENSP00000423660:L735F;ENSP00000421860:L728F;ENSP00000377886:L620F	ENSP00000377886:L620F	L	-	3	2	SH3TC2	148387283	0.991000	0.36638	0.997000	0.53966	0.200000	0.23975	0.534000	0.23098	2.937000	0.99478	0.650000	0.86243	TTG		0.572	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577		A	148407090	C	A	148407090	3	1	766	1	0	0	0	0	1	0	0	0	14268	593	21	4	1689	4	SH3TC2	5	148407090	Missense_Mutation	SNP	C	TCGA-MH-A854-01A-11D-A34Z-10		148407090	32508170	35	45219											
MGAT4B	11282	hgsc.bcm.edu	37	5	179225417	179225417	+	Missense_Mutation	SNP	C	C	A			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr5:179225417C>A	ENST00000292591.7	-	13	1790	c.1440G>T	c.(1438-1440)aaG>aaT	p.K480N	MGAT4B_ENST00000337755.5_Missense_Mutation_p.K495N|MIR1229_ENST00000408467.1_RNA|MGAT4B_ENST00000521305.1_5'Flank	NM_014275.4	NP_055090.1	Q9UQ53	MGT4B_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B	480					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)			GCAGGGCCTCCTTGTCTGACT	0.662																																					GBM(13;414 434 4098 22176 23230)											0													33	34	33					5																	179225417		2203	4299	6502	SO:0001583	missense	11282			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.1440G>T	chr5.hg19:g.179225417C>A	ENSP00000292591:p.Lys480Asn		A8MPR0|Q86TF1|Q96GH4|Q9NSK6	Missense_Mutation	SNP	ENST00000292591.7	hg19	CCDS4448.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	23.8|23.8|23.8	4.456538|4.456538|4.456538	0.84317|0.84317|0.84317	.|.|.	.|.|.	ENSG00000161013|ENSG00000161013|ENSG00000161013	ENST00000518778;ENST00000520875|ENST00000337755;ENST00000292591;ENST00000519836|ENST00000520969;ENST00000518980;ENST00000518867	.|T;T|.	.|0.33654|.	.|1.4;1.42|.	5.09|5.09|5.09	2.14|2.14|2.14	0.27477|0.27477|0.27477	.|.|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	.|T|T	.|0.54447|0.54447	.|0.1859|0.1859	L|L|L	0.50333|0.50333|0.50333	1.59|1.59|1.59	0.58432|0.58432|0.58432	D|D|D	0.999998|0.999998|0.999998	.|P;P;D|.	.|0.76494|.	.|0.906;0.906;0.999|.	.|B;B;D|.	.|0.78314|.	.|0.264;0.444;0.991|.	.|T|T	.|0.45891|0.45891	.|-0.9230|-0.9230	.|10|5	.|0.17832|.	.|T|.	.|0.49|.	-31.9236|-31.9236|-31.9236	6.435|6.435|6.435	0.21819|0.21819|0.21819	0.0:0.6875:0.1492:0.1633|0.0:0.6875:0.1492:0.1633|0.0:0.6875:0.1492:0.1633	.|.|.	.|480;495;479|.	.|Q9UQ53;A8MPR0;Q9UQ53-2|.	.|MGT4B_HUMAN;.;.|.	X|N|M	305;261|495;480;348|172;226;241	.|ENSP00000338487:K495N;ENSP00000292591:K480N|.	.|ENSP00000292591:K480N|.	G|K|R	-|-|-	1|3|2	0|2|0	MGAT4B|MGAT4B|MGAT4B	179158023|179158023|179158023	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.968000|0.968000|0.968000	0.65278|0.65278|0.65278	0.894000|0.894000|0.894000	0.28350|0.28350|0.28350	0.547000|0.547000|0.547000	0.28938|0.28938|0.28938	0.561000|0.561000|0.561000	0.74099|0.74099|0.74099	GGA|AAG|AGG		0.662	MGAT4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253503.3	NM_014275		A	179225417	C	A	179225417	3	1	766	1	0	0	0	0	1	0	0	0	9548	680	24	4	218	4	MGAT4B	5	179225417	Missense_Mutation	SNP	C	TCGA-MH-A854-01A-11D-A34Z-10	30818327	179225417	1689843	36	45220											
VARS2	57176	hgsc.bcm.edu	37	6	30886640	30886640	+	Missense_Mutation	SNP	C	C	G			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr6:30886640C>G	ENST00000321897.5	+	10	1654	c.1022C>G	c.(1021-1023)aCg>aGg	p.T341R	VARS2_ENST00000542001.1_Missense_Mutation_p.T201R|VARS2_ENST00000541562.1_Missense_Mutation_p.T371R|VARS2_ENST00000416670.2_Missense_Mutation_p.T341R			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	341					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)			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						AGGCCAGAGACGCTGCCTGGA	0.547																																																0													102	85	91					6																	30886640		1510	2707	4217	SO:0001583	missense	57176			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.1022C>G	chr6.hg19:g.30886640C>G	ENSP00000316092:p.Thr341Arg		A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Missense_Mutation	SNP	ENST00000321897.5	hg19	CCDS34387.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.432661	0.83776	.	.	ENSG00000137411	ENST00000321897;ENST00000416670;ENST00000542001;ENST00000541562	T;T;T;T	0.61158	0.13;0.13;0.13;0.13	4.54	4.54	0.55810	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class Ia, editing domain (2);Aminoacyl-tRNA synthetase, class Ia (1);	0.000000	0.85682	D	0.000000	D	0.82715	0.5097	H	0.98446	4.235	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	0.89538	0.3790	10	0.87932	D	0	-12.4516	14.7942	0.69865	0.0:1.0:0.0:0.0	.	341;371;341	B7ZL25;F5GXJ0;Q5ST30	.;.;SYVM_HUMAN	R	341;341;201;371	ENSP00000316092:T341R;ENSP00000394802:T341R;ENSP00000438200:T201R;ENSP00000441000:T371R	ENSP00000316092:T341R	T	+	2	0	VARS2	30994619	1.000000	0.71417	0.934000	0.37439	0.976000	0.68499	6.793000	0.75130	2.093000	0.63338	0.563000	0.77884	ACG		0.547	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076566.2	NM_020442		G	30886640	C	G	30886640	3	3	766	1	0	0	0	0	1	0	0	0	17129	536	19	4	1154	4	VARS2	6	30886640	Missense_Mutation	SNP	C	TCGA-MH-A854-01A-11D-A34Z-10		30886640	140228427	37	45221											
BRPF3	27154	hgsc.bcm.edu	37	6	36181792	36181792	+	Missense_Mutation	SNP	A	A	G			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr6:36181792A>G	ENST00000357641.6	+	8	2871	c.2618A>G	c.(2617-2619)aAg>aGg	p.K873R	BRPF3_ENST00000443324.2_Intron|BRPF3_ENST00000339717.7_Intron|BRPF3_ENST00000534694.1_Intron|BRPF3_ENST00000534400.1_Missense_Mutation_p.K873R|BRPF3_ENST00000543502.1_Intron	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	873					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						AGGTTCCTAAAGCCCAGAAAG	0.517																																																0													55	57	56					6																	36181792		2203	4300	6503	SO:0001583	missense	27154			AB033112	CCDS34437.1	6p21.31	2008-02-05			ENSG00000096070	ENSG00000096070			14256	protein-coding gene	gene with protein product						10574462	Standard	NM_015695		Approved	KIAA1286	uc003olv.4	Q9ULD4	OTTHUMG00000014589	ENST00000357641.6:c.2618A>G	chr6.hg19:g.36181792A>G	ENSP00000350267:p.Lys873Arg		A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Missense_Mutation	SNP	ENST00000357641.6	hg19	CCDS34437.1	.	.	.	.	.	.	.	.	.	.	A	15.26	2.780396	0.49891	.	.	ENSG00000096070	ENST00000357641;ENST00000534400;ENST00000394572	T;T	0.18338	2.41;2.22	5.86	5.86	0.93980	.	0.345140	0.33938	N	0.004413	T	0.05593	0.0147	L	0.43923	1.385	0.80722	D	1	B	0.25390	0.125	B	0.20184	0.028	T	0.13845	-1.0494	10	0.10377	T	0.69	.	10.7757	0.46348	0.9265:0.0:0.0735:0.0	.	873	Q9ULD4	BRPF3_HUMAN	R	873;873;287	ENSP00000350267:K873R;ENSP00000436504:K873R	ENSP00000350267:K873R	K	+	2	0	BRPF3	36289770	1.000000	0.71417	0.976000	0.42696	0.742000	0.42306	6.518000	0.73764	2.241000	0.73720	0.413000	0.27773	AAG		0.517	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040335.3	NM_015695		G	36181792	A	G	36181792	3	3	766	1	0	0	0	0	1	0	0	0	1523	72	3	3	2644	3	BRPF3	6	36181792	Missense_Mutation	SNP	A	TCGA-MH-A854-01A-11D-A34Z-10	5295152	36181792	134933275	38	45222											
PNPLA1	285848	hgsc.bcm.edu	37	6	36259229	36259229	+	Missense_Mutation	SNP	A	A	G			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr6:36259229A>G	ENST00000394571.2	+	2	338	c.338A>G	c.(337-339)tAc>tGc	p.Y113C	PNPLA1_ENST00000388715.3_Missense_Mutation_p.Y18C|PNPLA1_ENST00000312917.5_Missense_Mutation_p.Y18C	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	113	Patatin.				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						GAGGACTCCTACAAGGTCACC	0.577																																																0													90	79	83					6																	36259229		2203	4300	6503	SO:0001583	missense	285848				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.338A>G	chr6.hg19:g.36259229A>G	ENSP00000378072:p.Tyr113Cys		A3RMU3|J3JS20|Q2A6N1|Q3SY95|Q3SY96|Q5R3L2	Missense_Mutation	SNP	ENST00000394571.2	hg19	CCDS54997.1	.	.	.	.	.	.	.	.	.	.	A	16.47	3.131417	0.56828	.	.	ENSG00000180316	ENST00000388715;ENST00000312917;ENST00000457797;ENST00000394571	T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09	5.48	5.48	0.80851	Acyl transferase/acyl hydrolase/lysophospholipase (1);	0.087844	0.45606	D	0.000353	T	0.81791	0.4897	L	0.54323	1.7	0.46222	D	0.998936	P;D	0.89917	0.515;1.0	B;D	0.87578	0.141;0.998	D	0.84518	0.0626	10	0.72032	D	0.01	-22.4818	13.5137	0.61528	1.0:0.0:0.0:0.0	.	113;18	Q8N8W4;Q8N8W4-3	PLPL1_HUMAN;.	C	18;18;113;113	ENSP00000373367:Y18C;ENSP00000321116:Y18C;ENSP00000391868:Y113C;ENSP00000378072:Y113C	ENSP00000321116:Y18C	Y	+	2	0	PNPLA1	36367207	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	7.908000	0.87438	2.070000	0.61991	0.383000	0.25322	TAC		0.577	PNPLA1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_173676		G	36259229	A	G	36259229	3	3	766	1	0	0	0	0	1	0	0	0	12166	391	14	3	344	3	PNPLA1	6	36259229	Missense_Mutation	SNP	A	TCGA-MH-A854-01A-11D-A34Z-10	77437	36259229	134855838	39	45223											
ABCC10	89845	hgsc.bcm.edu	37	6	43403598	43403598	+	Missense_Mutation	SNP	T	T	C			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr6:43403598T>C	ENST00000372530.4	+	5	1933	c.1718T>C	c.(1717-1719)cTt>cCt	p.L573P	ABCC10_ENST00000244533.3_Missense_Mutation_p.L530P	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	573					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)	CGGATCCAGCTTTTCCTCGAC	0.567																																																0													111	101	104					6																	43403598		2203	4300	6503	SO:0001583	missense	89845			U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"ATP binding cassette transporters / subfamily C"	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.1718T>C	chr6.hg19:g.43403598T>C	ENSP00000361608:p.Leu573Pro		Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	hg19	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	T	10.98	1.505257	0.26949	.	.	ENSG00000124574	ENST00000372515;ENST00000372530;ENST00000244533	D;D;D	0.94280	-3.39;-2.7;-2.71	5.12	3.32	0.38043	ABC transporter, transmembrane domain, type 1 (1);	0.651192	0.16159	N	0.226849	T	0.80199	0.4579	N	0.22421	0.69	0.37531	D	0.917901	B;B	0.21688	0.059;0.046	B;B	0.32677	0.15;0.026	T	0.71981	-0.4428	10	0.42905	T	0.14	-26.4903	4.7311	0.12964	0.2033:0.0:0.5197:0.277	.	530;573	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	P	129;573;530	ENSP00000361593:L129P;ENSP00000361608:L573P;ENSP00000244533:L530P	ENSP00000244533:L530P	L	+	2	0	ABCC10	43511576	0.999000	0.42202	0.998000	0.56505	0.973000	0.67179	1.147000	0.31602	0.558000	0.29135	-0.656000	0.03901	CTT		0.567	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		C	43403598	T	C	43403598	3	2	766	1	0	0	0	0	1	0	0	0	50	1609	56	3	1599	3	ABCC10	6	43403598	Missense_Mutation	SNP	T	TCGA-MH-A854-01A-11D-A34Z-10	7144369	43403598	127711469	40	45224											
KIAA1009	22832	hgsc.bcm.edu	37	6	84936099	84936099	+	Frame_Shift_Del	DEL	A	A	-			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr6:84936099delA	ENST00000403245.3	-	2	127	c.13delT	c.(13-15)tccfs	p.S5fs	KIAA1009_ENST00000257766.4_Intron	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)		TCTTCTTGGGAACAGTTAGCC	0.318																																																0													65	60	61					6																	84936099		1839	4066	5905	SO:0001589	frameshift_variant	22832																														ENST00000403245.3:c.13delT	chr6.hg19:g.84936099delA	ENSP00000385215:p.Ser5fs			Frame_Shift_Del	DEL	ENST00000403245.3	hg19	CCDS34494.2																																																																																				0.318	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317315.1			-	84936099	A	-	84936099	7	5	766	1	0	1	0	1	0	0	0	0	8205	246	9	0	4302	0	KIAA1009	6	84936099	Frame_Shift_Del	DEL	A	TCGA-MH-A854-01A-11D-A34Z-10	41532501	84936099	86178968	41	45225											
REV3L	5980	hgsc.bcm.edu	37	6	111680124	111680124	+	Missense_Mutation	SNP	A	A	G			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr6:111680124A>G	ENST00000358835.3	-	18	7427	c.6973T>C	c.(6973-6975)Ttc>Ctc	p.F2325L	REV3L_ENST00000435970.1_Missense_Mutation_p.F2247L|REV3L-IT1_ENST00000411895.1_RNA|REV3L_ENST00000368805.1_Missense_Mutation_p.F2325L|REV3L_ENST00000368802.3_Missense_Mutation_p.F2325L			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2325					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)		ATGCAGTAGAACAGAGCACAG	0.408								DNA polymerases (catalytic subunits)																																								0													163	151	155					6																	111680124		2203	4300	6503	SO:0001583	missense	5980			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.6973T>C	chr6.hg19:g.111680124A>G	ENSP00000351697:p.Phe2325Leu		O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	hg19	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	A	33	5.272863	0.95429	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970;ENST00000543871	T;T;T;T	0.09163	3.01;3.01;3.01;3.01	5.65	5.65	0.86999	DNA-directed DNA polymerase, family B, exonuclease domain (1);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.31104	0.0786	M	0.88310	2.945	0.53005	D	0.999969	P	0.51240	0.943	D	0.66716	0.946	T	0.22417	-1.0217	10	0.87932	D	0	.	15.883	0.79216	1.0:0.0:0.0:0.0	.	2325	O60673	DPOLZ_HUMAN	L	2325;2325;2325;2247;398	ENSP00000357792:F2325L;ENSP00000357795:F2325L;ENSP00000351697:F2325L;ENSP00000402003:F2247L	ENSP00000351697:F2325L	F	-	1	0	REV3L	111786817	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.721000	0.91446	2.150000	0.67090	0.455000	0.32223	TTC		0.408	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		G	111680124	A	G	111680124	3	3	766	1	0	0	0	0	1	0	0	0	13246	43	2	3	2483	3	REV3L	6	111680124	Missense_Mutation	SNP	A	TCGA-MH-A854-01A-11D-A34Z-10	26744025	111680124	59434943	42	45226											
KPNA5	3841	hgsc.bcm.edu	37	6	117023282	117023282	+	Missense_Mutation	SNP	T	T	C			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr6:117023282T>C	ENST00000368564.1	+	6	684	c.536T>C	c.(535-537)cTt>cCt	p.L179P	KPNA5_ENST00000356348.1_Missense_Mutation_p.L179P			O15131	IMA6_HUMAN	karyopherin alpha 5 (importin alpha 6)	176	NLS binding site (major). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)			breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		ATCAAACTTCTTAATTCTGAA	0.348																																																0													103	102	102					6																	117023282		2203	4300	6503	SO:0001583	missense	3841			AF005361	CCDS5111.1	6q22.2	2013-02-14			ENSG00000196911	ENSG00000196911		"Importins", "Armadillo repeat containing"	6398	protein-coding gene	gene with protein product		604545				9395085	Standard	NM_002269		Approved	SRP6, IPOA6	uc003pxh.3	O15131	OTTHUMG00000015448	ENST00000368564.1:c.536T>C	chr6.hg19:g.117023282T>C	ENSP00000357552:p.Leu179Pro		B2RAI5|Q86X23	Missense_Mutation	SNP	ENST00000368564.1	hg19	CCDS5111.1	.	.	.	.	.	.	.	.	.	.	T	18.68	3.675139	0.67928	.	.	ENSG00000196911	ENST00000368564;ENST00000356348	D;D	0.84516	-1.86;-1.86	5.51	3.09	0.35607	Armadillo-like helical (1);Armadillo-type fold (1);	0.079936	0.50627	N	0.000102	D	0.92583	0.7644	H	0.97265	3.97	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91539	0.5248	10	0.87932	D	0	.	7.462	0.27300	0.1275:0.0696:0.0:0.8029	.	176	O15131	IMA5_HUMAN	P	179	ENSP00000357552:L179P;ENSP00000348704:L179P	ENSP00000348704:L179P	L	+	2	0	KPNA5	117129975	1.000000	0.71417	0.649000	0.29536	0.997000	0.91878	7.376000	0.79658	0.378000	0.24764	0.482000	0.46254	CTT		0.348	KPNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041967.1	NM_002269		C	117023282	T	C	117023282	3	2	766	1	0	0	0	0	1	0	0	0	8435	1609	56	3	558	3	KPNA5	6	117023282	Missense_Mutation	SNP	T	TCGA-MH-A854-01A-11D-A34Z-10	5343158	117023282	54091785	43	45227											
RFX6	222546	hgsc.bcm.edu	37	6	117246661	117246661	+	Missense_Mutation	SNP	T	T	C			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr6:117246661T>C	ENST00000332958.2	+	16	1740	c.1724T>C	c.(1723-1725)cTg>cCg	p.L575P		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	575					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TCATGCTTTCTGGCCAACCGT	0.458																																																0													136	137	137					6																	117246661		2203	4300	6503	SO:0001583	missense	222546			BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"regulatory factor X domain containing 1"	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.1724T>C	chr6.hg19:g.117246661T>C	ENSP00000332208:p.Leu575Pro		Q5T6B3	Missense_Mutation	SNP	ENST00000332958.2	hg19	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.651636	0.88056	.	.	ENSG00000185002	ENST00000332958	T	0.70516	-0.49	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.78142	0.4237	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78635	-0.2127	10	0.48119	T	0.1	-11.6703	16.5763	0.84648	0.0:0.0:0.0:1.0	.	575	Q8HWS3	RFX6_HUMAN	P	575	ENSP00000332208:L575P	ENSP00000332208:L575P	L	+	2	0	RFX6	117353354	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.649000	0.83500	2.317000	0.78254	0.459000	0.35465	CTG		0.458	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		C	117246661	T	C	117246661	3	2	766	1	0	0	0	0	1	0	0	0	13273	1580	55	3	1786	3	RFX6	6	117246661	Missense_Mutation	SNP	T	TCGA-MH-A854-01A-11D-A34Z-10	223379	117246661	53868406	44	45228											
EPB41L2	2037	hgsc.bcm.edu	37	6	131216219	131216219	+	Missense_Mutation	SNP	T	T	C			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr6:131216219T>C	ENST00000337057.3	-	9	1458	c.1277A>G	c.(1276-1278)aAt>aGt	p.N426S	EPB41L2_ENST00000528282.1_Missense_Mutation_p.N426S|EPB41L2_ENST00000530481.1_Missense_Mutation_p.N426S|EPB41L2_ENST00000527411.1_Missense_Mutation_p.N426S|EPB41L2_ENST00000525271.1_Missense_Mutation_p.N426S|EPB41L2_ENST00000529208.1_Missense_Mutation_p.N426S|EPB41L2_ENST00000392427.3_Missense_Mutation_p.N426S|EPB41L2_ENST00000445890.2_Missense_Mutation_p.N426S|EPB41L2_ENST00000525193.1_Missense_Mutation_p.N426S|EPB41L2_ENST00000368128.2_Missense_Mutation_p.N426S|EPB41L2_ENST00000527659.1_Missense_Mutation_p.N426S	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	426	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)		GAGAAGTCCATTAGCACACAC	0.398																																																0													166	146	153					6																	131216219		2203	4300	6503	SO:0001583	missense	2037			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.1277A>G	chr6.hg19:g.131216219T>C	ENSP00000338481:p.Asn426Ser		B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Missense_Mutation	SNP	ENST00000337057.3	hg19	CCDS5141.1	.	.	.	.	.	.	.	.	.	.	T	9.975	1.226513	0.22542	.	.	ENSG00000079819	ENST00000528282;ENST00000530481;ENST00000445890;ENST00000337057;ENST00000392427;ENST00000425439;ENST00000368128;ENST00000527411;ENST00000525271;ENST00000525193;ENST00000527659;ENST00000529208	D;D;D;D;D;D;D;D;D;D;D	0.86366	-2.11;-2.11;-2.11;-2.11;-2.11;-2.11;-2.11;-2.11;-2.11;-2.11;-2.11	5.68	5.68	0.88126	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.72011	0.3408	N	0.01535	-0.81	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;0.999;0.999	D;D;D;D;D	0.87578	0.998;0.996;0.998;0.998;0.996	T	0.76258	-0.3025	10	0.02654	T	1	.	15.9369	0.79717	0.0:0.0:0.0:1.0	.	426;426;426;426;426	E9PHY5;B4DHI8;E9PPD9;O43491;Q68DV2	.;.;.;E41L2_HUMAN;.	S	426	ENSP00000434308:N426S;ENSP00000434576:N426S;ENSP00000402041:N426S;ENSP00000338481:N426S;ENSP00000376222:N426S;ENSP00000357110:N426S;ENSP00000436348:N426S;ENSP00000432803:N426S;ENSP00000431988:N426S;ENSP00000431647:N426S;ENSP00000436641:N426S	ENSP00000338481:N426S	N	-	2	0	EPB41L2	131257912	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	5.155000	0.64900	2.172000	0.68678	0.533000	0.62120	AAT		0.398	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3			C	131216219	T	C	131216219	3	2	766	1	0	0	0	0	1	0	0	0	5155	1493	52	3	1784	3	EPB41L2	6	131216219	Missense_Mutation	SNP	T	TCGA-MH-A854-01A-11D-A34Z-10	13969558	131216219	39898848	45	45229											
EYA4	2070	hgsc.bcm.edu	37	6	133849906	133849906	+	Missense_Mutation	SNP	T	T	C			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr6:133849906T>C	ENST00000367895.5	+	20	2347	c.1883T>C	c.(1882-1884)cTg>cCg	p.L628P	EYA4_ENST00000431403.2_Missense_Mutation_p.L628P|EYA4_ENST00000355286.6_Missense_Mutation_p.L605P|EYA4_ENST00000525849.1_Missense_Mutation_p.L605P|EYA4_ENST00000531901.1_Missense_Mutation_p.L634P|EYA4_ENST00000452339.2_Missense_Mutation_p.L574P|EYA4_ENST00000355167.3_Missense_Mutation_p.L628P|EYA4_ENST00000430974.2_Intron|RP3-323P13.2_ENST00000607033.1_RNA	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4	628					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)		TCAGACCTCCTGGCTCTCCAC	0.448																																					Melanoma(57;398 1237 3528 4702 7415)											0													274	253	260					6																	133849906		2203	4300	6503	SO:0001583	missense	2070			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.1883T>C	chr6.hg19:g.133849906T>C	ENSP00000356870:p.Leu628Pro		B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Missense_Mutation	SNP	ENST00000367895.5	hg19	CCDS5165.1	.	.	.	.	.	.	.	.	.	.	T	18.29	3.590941	0.66219	.	.	ENSG00000112319	ENST00000452339;ENST00000367895;ENST00000355167;ENST00000355286;ENST00000531901;ENST00000525849;ENST00000431403	D;D;D;D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54;-2.54;-2.54;-2.54	6.07	6.07	0.98685	EYA (1);	0.000000	0.85682	D	0.000000	D	0.90817	0.7116	L	0.53249	1.67	0.80722	D	1	D;D;D;P;D	0.76494	0.96;0.998;0.999;0.871;0.96	P;P;D;P;P	0.68943	0.689;0.899;0.961;0.574;0.782	D	0.89304	0.3628	10	0.30854	T	0.27	-8.0266	16.6407	0.85098	0.0:0.0:0.0:1.0	.	634;574;605;628;628	F2Z2Y1;E7EN58;O95677-2;O95677-4;O95677	.;.;.;.;EYA4_HUMAN	P	574;628;628;605;634;605;628	ENSP00000395916:L574P;ENSP00000356870:L628P;ENSP00000347294:L628P;ENSP00000347434:L605P;ENSP00000432770:L634P;ENSP00000433219:L605P;ENSP00000404558:L628P	ENSP00000347294:L628P	L	+	2	0	EYA4	133891599	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.015000	0.88690	2.326000	0.78906	0.533000	0.62120	CTG		0.448	EYA4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042282.2	NM_004100		C	133849906	T	C	133849906	3	2	766	1	0	0	0	0	1	0	0	0	5333	1580	55	3	2062	3	EYA4	6	133849906	Missense_Mutation	SNP	T	TCGA-MH-A854-01A-11D-A34Z-10	2633687	133849906	37265161	46	45230											
NOX3	50508	hgsc.bcm.edu	37	6	155776915	155776915	+	Frame_Shift_Del	DEL	A	A	-			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr6:155776915delA	ENST00000159060.2	-	1	122	c.20delT	c.(19-21)ttgfs	p.L7fs		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	7					detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		ACCCTCATTCAAAATCCAGCA	0.378																																																0													96	91	93					6																	155776915		2203	4300	6503	SO:0001589	frameshift_variant	50508			AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.20delT	chr6.hg19:g.155776915delA	ENSP00000159060:p.Leu7fs		Q9HBJ9	Frame_Shift_Del	DEL	ENST00000159060.2	hg19	CCDS5250.1																																																																																				0.378	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1			-	155776915	A	-	155776915	7	5	766	1	0	1	0	1	0	0	0	0	10559	131	5	0	1738	0	NOX3	6	155776915	Frame_Shift_Del	DEL	A	TCGA-MH-A854-01A-11D-A34Z-10	21927009	155776915	15338152	47	45231											
THSD7A	221981	hgsc.bcm.edu	37	7	11581118	11581118	+	Missense_Mutation	SNP	A	A	G			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr7:11581118A>G	ENST00000423059.4	-	6	2001	c.1750T>C	c.(1750-1752)Tgc>Cgc	p.C584R		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	584					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)		TCTGGCTCGCAGTTTCCCAGT	0.498										HNSCC(18;0.044)																																						0													101	101	101					7																	11581118		1996	4162	6158	SO:0001583	missense	221981				CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.1750T>C	chr7.hg19:g.11581118A>G	ENSP00000406482:p.Cys584Arg			Missense_Mutation	SNP	ENST00000423059.4	hg19	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.360480	0.82353	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.76060	-0.99	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.91479	0.7310	H	0.98199	4.17	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94288	0.7526	10	0.62326	D	0.03	.	16.1381	0.81502	1.0:0.0:0.0:0.0	.	584	Q9UPZ6	THS7A_HUMAN	R	584	ENSP00000406482:C584R	ENSP00000262042:C584R	C	-	1	0	THSD7A	11547643	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	8.880000	0.92407	2.258000	0.74832	0.533000	0.62120	TGC		0.498	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		G	11581118	A	G	11581118	3	3	766	1	0	0	0	0	1	0	0	0	15884	188	7	3	3311	3	THSD7A	7	11581118	Missense_Mutation	SNP	A	TCGA-MH-A854-01A-11D-A34Z-10		11581118	147557545	48	45232											
LSM5	23658	hgsc.bcm.edu	37	7	32527353	32527353	+	Missense_Mutation	SNP	C	C	T			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr7:32527353C>T	ENST00000450169.2	-	4	239	c.187G>A	c.(187-189)Gga>Aga	p.G63R	LSM5_ENST00000409987.1_Silent_p.K58K|LSM5_ENST00000409292.1_Missense_Mutation_p.G34R|LSM5_ENST00000409952.3_Missense_Mutation_p.G34R|LSM5_ENST00000409909.3_Missense_Mutation_p.G34R|LSM5_ENST00000409782.1_Missense_Mutation_p.G34R|LSM5_ENST00000410044.1_Missense_Mutation_p.G34R	NM_001130710.1|NM_012322.2	NP_001124182.1|NP_036454.1	Q9Y4Y9	LSM5_HUMAN	LSM5 homolog, U6 small nuclear RNA associated (S. cerevisiae)	63					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	RNA binding (GO:0003723)			breast(1)|cervix(1)|large_intestine(1)|lung(1)|stomach(1)	5			GBM - Glioblastoma multiforme(11;0.152)			ATCCTTCTTCCTTCTGGTGTG	0.318																																																0													84	84	84					7																	32527353		2200	4297	6497	SO:0001583	missense	23658			AF182291	CCDS5438.1, CCDS47571.1	7p14.3	2003-02-17			ENSG00000106355	ENSG00000106355			17162	protein-coding gene	gene with protein product		607285				10369684, 12515382	Standard	NM_001130710		Approved	YER146W	uc003tct.2	Q9Y4Y9	OTTHUMG00000022913	ENST00000450169.2:c.187G>A	chr7.hg19:g.32527353C>T	ENSP00000410758:p.Gly63Arg			Missense_Mutation	SNP	ENST00000450169.2	hg19	CCDS5438.1	.	.	.	.	.	.	.	.	.	.	C	33	5.281048	0.95489	.	.	ENSG00000106355	ENST00000450169;ENST00000409909;ENST00000409292;ENST00000410044;ENST00000409782;ENST00000409952	.	.	.	6.17	6.17	0.99709	Like-Sm ribonucleoprotein (LSM) domain, eukaryotic/archaea-type (1);Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.000000	0.85682	D	0.000000	D	0.84028	0.5382	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83775	0.0222	8	0.62326	D	0.03	.	20.4745	0.99168	0.0:1.0:0.0:0.0	.	63	Q9Y4Y9	LSM5_HUMAN	R	63;34;34;34;34;34	.	ENSP00000386814:G34R	G	-	1	0	LSM5	32493878	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.191000	0.77763	2.941000	0.99782	0.655000	0.94253	GGA		0.318	LSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215102.2			T	32527353	C	T	32527353	3	4	766	1	0	0	0	0	1	0	0	0	9061	690	24	2	96	2	LSM5	7	32527353	Missense_Mutation	SNP	C	TCGA-MH-A854-01A-11D-A34Z-10	20946235	32527353	126611310	49	45233											
PCLO	27445	hgsc.bcm.edu	37	7	82784425	82784425	+	Missense_Mutation	SNP	G	G	A			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr7:82784425G>A	ENST00000333891.9	-	2	1869	c.1532C>T	c.(1531-1533)cCt>cTt	p.P511L	PCLO_ENST00000423517.2_Missense_Mutation_p.P511L	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						AGGCTGTTGAGGTGGGGGTTT	0.597																																																0													134	143	140					7																	82784425		1971	4164	6135	SO:0001583	missense	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.1532C>T	chr7.hg19:g.82784425G>A	ENSP00000334319:p.Pro511Leu			Missense_Mutation	SNP	ENST00000333891.9	hg19	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	3.408	-0.120889	0.06838	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.16196	2.36;2.36	4.65	4.65	0.58169	.	.	.	.	.	T	0.14787	0.0357	L	0.35854	1.095	0.18873	N	0.999983	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.09164	-1.0687	9	0.87932	D	0	.	8.9393	0.35720	0.1036:0.0:0.8964:0.0	.	511;511	Q9Y6V0-5;Q9Y6V0-6	.;.	L	457;511;511	ENSP00000334319:P511L;ENSP00000388393:P511L	ENSP00000334319:P511L	P	-	2	0	PCLO	82622361	0.015000	0.18098	0.325000	0.25375	0.071000	0.16799	1.788000	0.38714	2.176000	0.68965	0.089000	0.15464	CCT		0.597	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		A	82784425	G	A	82784425	3	1	766	1	0	0	0	0	1	0	0	0	11585	1000	35	2	14009	2	PCLO	7	82784425	Missense_Mutation	SNP	G	TCGA-MH-A854-01A-11D-A34Z-10	50257072	82784425	76354238	50	45234											
DMTF1	9988	hgsc.bcm.edu	37	7	86808921	86808921	+	Missense_Mutation	SNP	G	G	C			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr7:86808921G>C	ENST00000394703.5	+	10	1143	c.580G>C	c.(580-582)Gat>Cat	p.D194H	DMTF1_ENST00000432937.2_Missense_Mutation_p.D106H|DMTF1_ENST00000414194.2_5'UTR|DMTF1_ENST00000411766.2_Missense_Mutation_p.D153H|DMTF1_ENST00000331242.7_Missense_Mutation_p.D194H|DMTF1_ENST00000394702.3_Missense_Mutation_p.D194H|DMTF1_ENST00000413276.2_Missense_Mutation_p.D194H	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	194	Interaction with CCND1, CCND2 and CCND3. {ECO:0000250}.|Interaction with CCND2. {ECO:0000250}.|Required for DNA-binding. {ECO:0000250}.				cell cycle (GO:0007049)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					CGAAAGAAAAGATTTCTACAG	0.388																																																0													78	75	76					7																	86808921		2203	4300	6503	SO:0001583	missense	9988			AF084530	CCDS5601.1, CCDS47633.1	7q21	2014-06-25			ENSG00000135164	ENSG00000135164			14603	protein-coding gene	gene with protein product	"cyclin D-binding Myb-like protein"	608491				10095122, 24958102	Standard	NR_024549		Approved	DMP1, DMTF, hDMP1, MRUL	uc003uih.3	Q9Y222	OTTHUMG00000154135	ENST00000394703.5:c.580G>C	chr7.hg19:g.86808921G>C	ENSP00000378193:p.Asp194His		B2RBE1|B4DJS5|Q05C48|Q59G79|Q6IS13|Q969T2|Q9H2Z2|Q9H2Z3	Missense_Mutation	SNP	ENST00000394703.5	hg19	CCDS5601.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.686016	0.88639	.	.	ENSG00000135164	ENST00000331242;ENST00000394702;ENST00000413276;ENST00000447863;ENST00000425406;ENST00000411766;ENST00000432937;ENST00000394703;ENST00000412139	T;T;T;T	0.50277	0.75;0.83;0.77;0.75	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.63710	0.2534	L	0.52573	1.65	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	T	0.64093	-0.6488	10	0.51188	T	0.08	-18.0197	17.6427	0.88141	0.0:0.0:1.0:0.0	.	194	Q9Y222	DMTF1_HUMAN	H	194;194;194;194;153;153;106;194;194	ENSP00000332171:D194H;ENSP00000402627:D194H;ENSP00000412532:D106H;ENSP00000378193:D194H	ENSP00000332171:D194H	D	+	1	0	DMTF1	86646857	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	9.813000	0.99286	2.475000	0.83589	0.313000	0.20887	GAT		0.388	DMTF1-002	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334025.5	NM_021145		C	86808921	G	C	86808921	3	2	766	1	0	0	0	0	1	0	0	0	4594	942	33	4	602	4	DMTF1	7	86808921	Missense_Mutation	SNP	G	TCGA-MH-A854-01A-11D-A34Z-10	4024496	86808921	72329742	51	45235											
STEAP4	79689	hgsc.bcm.edu	37	7	87910335	87910335	+	Nonsense_Mutation	SNP	A	A	C			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr7:87910335A>C	ENST00000380079.4	-	4	1145	c.1044T>G	c.(1042-1044)taT>taG	p.Y348*	STEAP4_ENST00000301959.5_Nonsense_Mutation_p.Y172*|AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000434733.1_RNA|AC003991.3_ENST00000447758.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	348	Ferric oxidoreductase.				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)					CCAAAGCCACATATGAATCAC	0.388																																																0													91	89	89					7																	87910335		1881	4112	5993	SO:0001587	stop_gained	79689			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.1044T>G	chr7.hg19:g.87910335A>C	ENSP00000369419:p.Tyr348*		Q658Q9|Q687X4|Q8WWB0|Q9H5R1	Nonsense_Mutation	SNP	ENST00000380079.4	hg19	CCDS43611.1	.	.	.	.	.	.	.	.	.	.	A	19.81	3.896109	0.72639	.	.	ENSG00000127954	ENST00000380079;ENST00000301959	.	.	.	6.08	-0.826	0.10805	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.35668	D	0.81311	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.7158	12.1658	0.54129	0.5099:0.0:0.4901:0.0	.	.	.	.	X	348;172	.	ENSP00000305545:Y172X	Y	-	3	2	STEAP4	87748271	0.002000	0.14202	0.072000	0.20136	0.834000	0.47266	0.053000	0.14184	-0.081000	0.12662	0.482000	0.46254	TAT		0.388	STEAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332712.4	NM_024636		C	87910335	A	C	87910335	4	2	766	1	0	0	0	0	0	1	0	0	15285	224	8	5	343	5	STEAP4	7	87910335	Nonsense_Mutation	SNP	A	TCGA-MH-A854-01A-11D-A34Z-10	1101414	87910335	71228328	52	45236											
TFR2	7036	hgsc.bcm.edu	37	7	100238810	100238819	+	Frame_Shift_Del	DEL	ACGCTGGTAG	ACGCTGGTAG	-			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	ACGCTGGTAG	ACGCTGGTAG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr7:100238810_100238819delACGCTGGTAG	ENST00000462107.1	-	3	353_362	c.66_75delCTACCAGCGT	c.(64-75)gtctaccagcgtfs	p.VYQR22fs	TFR2_ENST00000223051.3_Frame_Shift_Del_p.VYQR22fs|TFR2_ENST00000431692.1_Frame_Shift_Del_p.VYQR22fs			Q9UP52	TFR2_HUMAN	transferrin receptor 2	22			V -> I (in HFE3). {ECO:0000269|PubMed:14633868}.		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)	p.R25H(1)		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)	GGCCTTCCACACGCTGGTAGACGGTCTGAG	0.638																																																1	Substitution - Missense(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	7036			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.66_75delCTACCAGCGT	chr7.hg19:g.100238810_100238819delACGCTGGTAG	ENSP00000420525:p.Val22fs		A6NGM7|O75422|Q1HE13|Q9HA99|Q9NX67	Frame_Shift_Del	DEL	ENST00000462107.1	hg19	CCDS34707.1																																																																																				0.638	TFR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356392.3	NM_003227		-	100238819	ACGCTGGTAG	-	100238810	7	5	766	1	0	1	0	1	0	0	0	0	15816	146	6	0	2398	0	TFR2	7	100238810	Frame_Shift_Del	DEL	ACGCTGGTAG	TCGA-MH-A854-01A-11D-A34Z-10	12328475	100238810	58899853	53	45237											
SLC12A9	56996	hgsc.bcm.edu	37	7	100463464	100463464	+	Missense_Mutation	SNP	C	C	T			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr7:100463464C>T	ENST00000354161.3	+	14	2107	c.1982C>T	c.(1981-1983)gCt>gTt	p.A661V	TRIP6_ENST00000200457.4_5'Flank	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	661					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)					AGTTCCCCAGCTCTGAGCACC	0.647																																																0													48	50	49					7																	100463464		2203	4300	6503	SO:0001583	missense	56996			AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828		"Solute carriers"	17435	protein-coding gene	gene with protein product	"cation-chloride cotransporter-interacting protein"					10871601, 11239002	Standard	NM_020246		Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	ENST00000354161.3:c.1982C>T	chr7.hg19:g.100463464C>T	ENSP00000275730:p.Ala661Val		B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Missense_Mutation	SNP	ENST00000354161.3	hg19	CCDS5707.1	.	.	.	.	.	.	.	.	.	.	C	7.488	0.650158	0.14516	.	.	ENSG00000146828	ENST00000354161;ENST00000539308	D	0.91295	-2.82	4.92	4.92	0.64577	.	0.481191	0.19531	N	0.112040	T	0.79822	0.4512	N	0.08118	0	0.80722	D	1	B	0.22146	0.065	B	0.13407	0.009	T	0.74881	-0.3513	10	0.11182	T	0.66	.	15.6446	0.77039	0.0:1.0:0.0:0.0	.	661	Q9BXP2	S12A9_HUMAN	V	661;287	ENSP00000275730:A661V	ENSP00000275730:A661V	A	+	2	0	SLC12A9	100301400	0.967000	0.33354	0.857000	0.33713	0.106000	0.19336	2.366000	0.44204	2.564000	0.86499	0.555000	0.69702	GCT		0.647	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1	NM_020246		T	100463464	C	T	100463464	3	4	766	1	0	0	0	0	1	0	0	0	14396	797	28	2	2032	2	SLC12A9	7	100463464	Missense_Mutation	SNP	C	TCGA-MH-A854-01A-11D-A34Z-10	224654	100463464	58675199	54	45238											
PSMC2	5701	hgsc.bcm.edu	37	7	103008247	103008247	+	Missense_Mutation	SNP	A	A	T			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr7:103008247A>T	ENST00000435765.1	+	12	1546	c.1135A>T	c.(1135-1137)Aat>Tat	p.N379Y	PSMC2_ENST00000292644.3_Missense_Mutation_p.N379Y|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000356767.4_Intron|PSMC2_ENST00000544811.1_Missense_Mutation_p.N242Y|SLC26A5_ENST00000339444.6_Intron	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	379					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|osteoblast differentiation (GO:0001649)|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)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						ACTGTGTCCAAATAGCACTGG	0.388																																																0													107	110	109					7																	103008247		2203	4300	6503	SO:0001583	missense	5701			D11094	CCDS5731.1	7q22.1-q22.3	2010-04-21			ENSG00000161057	ENSG00000161057		"Proteasome (prosome, macropain) subunits", "ATPases / AAA-type"	9548	protein-coding gene	gene with protein product	"proteasome 26S subunit, ATPase, 2", "mammalian suppressor of sgv-1 of yeast", "protease 26S subunit 7", "putative protein product of Nbla10058"	154365				9473509, 1377363	Standard	NM_002803		Approved	MSS1, S7, Nbla10058	uc003vbs.3	P35998	OTTHUMG00000157206	ENST00000435765.1:c.1135A>T	chr7.hg19:g.103008247A>T	ENSP00000391211:p.Asn379Tyr		A4D0Q1|B7Z5E2|Q3LIA5|Q9UDI3	Missense_Mutation	SNP	ENST00000435765.1	hg19	CCDS5731.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.217729	0.79352	.	.	ENSG00000161057	ENST00000435765;ENST00000292644;ENST00000544811	D;D;D	0.95137	-3.62;-3.62;-3.62	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	D	0.95893	0.8663	L	0.48877	1.53	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.96294	0.9216	10	0.62326	D	0.03	-31.875	14.9258	0.70878	1.0:0.0:0.0:0.0	.	379	P35998	PRS7_HUMAN	Y	379;379;242	ENSP00000391211:N379Y;ENSP00000292644:N379Y;ENSP00000445546:N242Y	ENSP00000292644:N379Y	N	+	1	0	PSMC2	102795483	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.978000	0.93450	1.917000	0.55516	0.524000	0.50904	AAT		0.388	PSMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347922.1	NM_002803		T	103008247	A	T	103008247	3	4	766	1	0	0	0	0	1	0	0	0	12691	14	1	5	1177	5	PSMC2	7	103008247	Missense_Mutation	SNP	A	TCGA-MH-A854-01A-11D-A34Z-10	2544783	103008247	56130416	55	45239											
DNAJB6	10049	hgsc.bcm.edu	37	7	157178258	157178258	+	Missense_Mutation	SNP	G	G	T			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr7:157178258G>T	ENST00000262177.4	+	8	849	c.644G>T	c.(643-645)aGa>aTa	p.R215I	DNAJB6_ENST00000429029.2_Missense_Mutation_p.R215I|DNAJB6_ENST00000452797.2_Missense_Mutation_p.R166I|DNAJB6_ENST00000443280.1_Intron	NM_058246.3	NP_490647.1	O75190	DNJB6_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 6	215	Interaction with KRT18.				intermediate filament organization (GO:0045109)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of ATPase activity (GO:0032781)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	ATPase activator activity (GO:0001671)|chaperone binding (GO:0051087)|heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|lung(1)|ovary(2)|stomach(1)	5	all_neural(206;0.181)	all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196)	OV - Ovarian serous cystadenocarcinoma(82;0.00399)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		GGTCAAGAAAGAGTAGAAGTT	0.373																																					Esophageal Squamous(46;195 967 1350 20350 43814)											0													118	130	126					7																	157178258		2203	4300	6503	SO:0001583	missense	10049			AB014888	CCDS5946.1, CCDS47755.1	7q36.3	2014-02-03			ENSG00000105993	ENSG00000105993		"Heat shock proteins / DNAJ (HSP40)"	14888	protein-coding gene	gene with protein product		611332	"limb girdle muscular dystrophy 1D (autosomal dominant)"	LGMD1D		10319584, 9915854, 22366786	Standard	NM_005494		Approved	MRJ	uc003wnk.3	O75190	OTTHUMG00000157242	ENST00000262177.4:c.644G>T	chr7.hg19:g.157178258G>T	ENSP00000262177:p.Arg215Ile		A4D232|A8K7D8|A8KAG0|B4DN73|E9PCZ2|O95806|Q53EN8|Q59EF2|Q6FIC8|Q75MA2|Q9UIK6	Missense_Mutation	SNP	ENST00000262177.4	hg19	CCDS5946.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.13|16.13	3.034822|3.034822	0.54896|0.54896	.|.	.|.	ENSG00000105993|ENSG00000105993	ENST00000421417|ENST00000429029;ENST00000262177;ENST00000417758;ENST00000452797	.|T;T;T;T	.|0.46819	.|0.86;0.86;0.86;0.86	5.58|5.58	3.62|3.62	0.41486|0.41486	.|.	.|0.106321	.|0.34088	.|N	.|0.004272	.|T	.|0.60881	.|0.2303	M|M	0.79693|0.79693	2.465|2.465	0.80722|0.80722	D|D	1|1	.|D;D;P;P	.|0.59357	.|0.985;0.974;0.883;0.498	.|P;P;P;B	.|0.51135	.|0.66;0.459;0.459;0.444	.|T	.|0.71159	.|-0.4674	.|10	0.18276|0.87932	T|D	0.48|0	.|.	15.4173|15.4173	0.74980|0.74980	0.0:0.2635:0.7365:0.0|0.0:0.2635:0.7365:0.0	.|.	.|166;215;215;215	.|B4DN73;A8KAG0;O75190;O75190-2	.|.;.;DNJB6_HUMAN;.	X|I	215|215;215;215;166	.|ENSP00000397556:R215I;ENSP00000262177:R215I;ENSP00000400665:R215I;ENSP00000402270:R166I	ENSP00000416129:E215X|ENSP00000262177:R215I	E|R	+|+	1|2	0|0	DNAJB6|DNAJB6	156871019|156871019	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	4.591000|4.591000	0.61019|0.61019	1.318000|1.318000	0.45170|0.45170	0.655000|0.655000	0.94253|0.94253	GAG|AGA		0.373	DNAJB6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000348119.2			T	157178258	G	T	157178258	3	4	766	1	0	0	0	0	1	0	0	0	4626	942	33	4	670	4	DNAJB6	7	157178258	Missense_Mutation	SNP	G	TCGA-MH-A854-01A-11D-A34Z-10	54170011	157178258	1960405	56	45240											
AGPAT5	55326	hgsc.bcm.edu	37	8	6590118	6590118	+	Frame_Shift_Del	DEL	A	A	-			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr8:6590118delA	ENST00000285518.6	+	4	754	c.442delA	c.(442-444)aacfs	p.N148fs		NM_018361.3	NP_060831.2	Q9NUQ2	PLCE_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 5	148					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|hematopoietic progenitor cell differentiation (GO:0002244)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)		AGPAT5/MCPH1(2)	endometrium(2)|kidney(2)|large_intestine(4)|lung(3)	11			STAD - Stomach adenocarcinoma(24;0.0578)	READ - Rectum adenocarcinoma(644;0.156)|COAD - Colon adenocarcinoma(149;0.191)		TGCCAAATTTAACGAGAAAGA	0.418																																																0													67	66	66					8																	6590118		2203	4300	6503	SO:0001589	frameshift_variant	55326			AF375789	CCDS34796.1	8p23.1	2013-02-05	2013-02-05		ENSG00000155189	ENSG00000155189	2.3.1.51	"1-acylglycerol-3-phosphate O-acyltransferases"	20886	protein-coding gene	gene with protein product	"lysophosphatidic acid acyltransferase, epsilon"	614796	"1-acylglycerol-3-phosphate O-acyltransferase 5 (lysophosphatidic acid acyltransferase, epsilon)"				Standard	NM_018361		Approved	FLJ11210, LPAAT-e, LPAAT-epsilon	uc003wqo.3	Q9NUQ2	OTTHUMG00000163656	ENST00000285518.6:c.442delA	chr8.hg19:g.6590118delA	ENSP00000285518:p.Asn148fs		Q8IZ47|Q9BQG4	Frame_Shift_Del	DEL	ENST00000285518.6	hg19	CCDS34796.1																																																																																				0.418	AGPAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374684.1	NM_018361		-	6590118	A	-	6590118	7	5	766	1	0	1	0	1	0	0	0	0	390	362	13	0	456	0	AGPAT5	8	6590118	Frame_Shift_Del	DEL	A	TCGA-MH-A854-01A-11D-A34Z-10		6590118	139773904	57	45241											
ZBTB10	65986	hgsc.bcm.edu	37	8	81399773	81399773	+	Missense_Mutation	SNP	T	T	C			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr8:81399773T>C	ENST00000430430.1	+	2	1507	c.728T>C	c.(727-729)aTg>aCg	p.M243T	Y_RNA_ENST00000605948.1_RNA|ZBTB10_ENST00000379091.4_Intron|ZBTB10_ENST00000455036.3_Missense_Mutation_p.M243T|ZBTB10_ENST00000426744.2_Missense_Mutation_p.M243T	NM_001277145.1	NP_001264074.1	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10	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)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			AAGTCTCTAATGCAGAAGCTC	0.612																																																0													31	34	33					8																	81399773		2002	4174	6176	SO:0001583	missense	65986			AK022814	CCDS47880.1, CCDS64920.1	8q13-q21.1	2013-01-09			ENSG00000205189	ENSG00000205189		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	30953	protein-coding gene	gene with protein product						12477932	Standard	NM_001105539		Approved	RINZF, FLJ12752	uc003ybx.5	Q96DT7	OTTHUMG00000155016	ENST00000430430.1:c.728T>C	chr8.hg19:g.81399773T>C	ENSP00000387462:p.Met243Thr		A4FVD0|Q86W96|Q8IXI9|Q96MH9	Missense_Mutation	SNP	ENST00000430430.1	hg19	CCDS47880.1	.	.	.	.	.	.	.	.	.	.	T	12.52	1.962697	0.34659	.	.	ENSG00000205189	ENST00000430430;ENST00000455036;ENST00000426744;ENST00000519370	T;T;T	0.09630	2.96;2.96;2.96	4.52	4.52	0.55395	.	0.171155	0.37095	N	0.002246	T	0.06600	0.0169	N	0.08118	0	0.33778	D	0.623847	B;B;B	0.26547	0.039;0.039;0.152	B;B;B	0.20955	0.01;0.01;0.032	T	0.12477	-1.0546	10	0.87932	D	0	.	13.9929	0.64378	0.0:0.0:0.0:1.0	.	99;243;243	A8E4L4;Q96DT7;Q96DT7-2	.;ZBT10_HUMAN;.	T	243;243;243;71	ENSP00000387462:M243T;ENSP00000412036:M243T;ENSP00000416134:M243T	ENSP00000416134:M243T	M	+	2	0	ZBTB10	81562328	1.000000	0.71417	0.977000	0.42913	0.191000	0.23601	6.246000	0.72405	1.878000	0.54408	0.533000	0.62120	ATG		0.612	ZBTB10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338055.2	NM_023929		C	81399773	T	C	81399773	3	2	766	1	0	0	0	0	1	0	0	0	17528	1464	51	3	730	3	ZBTB10	8	81399773	Missense_Mutation	SNP	T	TCGA-MH-A854-01A-11D-A34Z-10	74809655	81399773	64964249	58	45242											
SLC25A32	81034	hgsc.bcm.edu	37	8	104419932	104419932	+	Missense_Mutation	SNP	G	G	A			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr8:104419932G>A	ENST00000297578.4	-	2	401	c.235C>T	c.(235-237)Cgg>Tgg	p.R79W	SLC25A32_ENST00000543107.1_De_novo_Start_OutOfFrame	NM_030780.3	NP_110407.2	Q9H2D1	MFTC_HUMAN	solute carrier family 25 (mitochondrial folate carrier), member 32	79					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|mitochondrial transport (GO:0006839)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	folic acid transporter activity (GO:0008517)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	9			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)	TAAAGTCCCCGTAGTCCATCA	0.398																																																0													163	164	164					8																	104419932		2203	4300	6503	SO:0001583	missense	81034			AF283645	CCDS6300.1	8q22.3	2013-05-22	2013-03-15		ENSG00000164933	ENSG00000164933		"Solute carriers"	29683	protein-coding gene	gene with protein product		610815	"solute carrier family 25, member 32"			10978331	Standard	NM_030780		Approved	MFTC	uc003yll.4	Q9H2D1	OTTHUMG00000164790	ENST00000297578.4:c.235C>T	chr8.hg19:g.104419932G>A	ENSP00000297578:p.Arg79Trp		Q96JZ6|Q96SU7	Missense_Mutation	SNP	ENST00000297578.4	hg19	CCDS6300.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.514039	0.85389	.	.	ENSG00000164933	ENST00000297578;ENST00000424899	T	0.80909	-1.43	6.05	6.05	0.98169	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.92273	0.7549	M	0.90252	3.1	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92648	0.6130	10	0.87932	D	0	-11.9646	20.6013	0.99457	0.0:0.0:1.0:0.0	.	79	Q9H2D1	MFTC_HUMAN	W	79;63	ENSP00000297578:R79W	ENSP00000297578:R79W	R	-	1	2	SLC25A32	104489108	1.000000	0.71417	0.959000	0.39883	0.987000	0.75469	5.692000	0.68256	2.878000	0.98634	0.650000	0.86243	CGG		0.398	SLC25A32-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380290.2	NM_030780		A	104419932	G	A	104419932	3	1	766	1	0	0	0	0	1	0	0	0	14502	1144	40	1	736	1	SLC25A32	8	104419932	Missense_Mutation	SNP	G	TCGA-MH-A854-01A-11D-A34Z-10	23020159	104419932	41944090	59	45243											
AQP3	360	hgsc.bcm.edu	37	9	33447468	33447468	+	Silent	SNP	G	G	A			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr9:33447468G>A	ENST00000297991.4	-	1	141	c.61C>T	c.(61-63)Ctg>Ttg	p.L21L	AQP3_ENST00000493581.1_5'UTR	NM_004925.4	NP_004916.1	Q92482	AQP3_HUMAN	aquaporin 3 (Gill blood group)	21					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)		TGTCGGAGCAGCCGGTAGCGG	0.711																																																0													18	21	20					9																	33447468		2188	4289	6477	SO:0001819	synonymous_variant	360				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.61C>T	chr9.hg19:g.33447468G>A			A8K843|B2RE16|D3DRL3|O00108|Q6FGT2|Q6FGW6	Silent	SNP	ENST00000297991.4	hg19	CCDS6542.1																																																																																				0.711	AQP3-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052055.1	NM_004925		A	33447468	G	A	33447468	2	1	766	1	0	0	0	0	0	0	0	1	827	962	34	2		2	AQP3	9	33447468	Silent	SNP	G	TCGA-MH-A854-01A-11D-A34Z-10		33447468	107765963	60	45244											
SPTLC1	10558	hgsc.bcm.edu	37	9	94809499	94809499	+	Missense_Mutation	SNP	C	C	T			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr9:94809499C>T	ENST00000262554.2	-	11	1041	c.1036G>A	c.(1036-1038)Gct>Act	p.A346T		NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	346					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)|SPOTS complex (GO:0035339)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)	GCTGCAGCAGCTAACAGGGGA	0.438																																																0													147	141	143					9																	94809499		2203	4300	6503	SO:0001583	missense	10558			Y08685	CCDS6692.1, CCDS6693.1	9q22.31	2014-09-17	2003-12-02		ENSG00000090054	ENSG00000090054	2.3.1.50		11277	protein-coding gene	gene with protein product		605712	"hereditary sensory neuropathy, type 1"	HSN1		9363775	Standard	NM_006415		Approved	LCB1, SPTI, HSAN1, hLCB1	uc004arl.1	O15269	OTTHUMG00000021047	ENST00000262554.2:c.1036G>A	chr9.hg19:g.94809499C>T	ENSP00000262554:p.Ala346Thr		A8K681|Q5VWB4|Q96IX6	Missense_Mutation	SNP	ENST00000262554.2	hg19	CCDS6692.1	.	.	.	.	.	.	.	.	.	.	C	33	5.247472	0.95305	.	.	ENSG00000090054	ENST00000262554	D	0.96200	-3.94	5.25	5.25	0.73442	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.048440	0.85682	D	0.000000	D	0.94785	0.8316	L	0.51422	1.61	0.80722	D	1	B;P	0.37914	0.314;0.611	B;B	0.43274	0.393;0.414	D	0.93830	0.7127	10	0.38643	T	0.18	-11.2377	19.0877	0.93212	0.0:1.0:0.0:0.0	.	346;346	Q6NUL7;O15269	.;SPTC1_HUMAN	T	346	ENSP00000262554:A346T	ENSP00000262554:A346T	A	-	1	0	SPTLC1	93849320	1.000000	0.71417	0.964000	0.40570	0.985000	0.73830	7.543000	0.82106	2.733000	0.93635	0.650000	0.86243	GCT		0.438	SPTLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055553.1	NM_006415		T	94809499	C	T	94809499	3	4	766	1	0	0	0	0	1	0	0	0	15128	797	28	2	405	2	SPTLC1	9	94809499	Missense_Mutation	SNP	C	TCGA-MH-A854-01A-11D-A34Z-10	61362031	94809499	46403932	61	45245											
KLF4	9314	hgsc.bcm.edu	37	9	110249965	110249965	+	Missense_Mutation	SNP	G	G	A			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr9:110249965G>A	ENST00000374672.4	-	3	1183	c.710C>T	c.(709-711)gCc>gTc	p.A237V		NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	237	Pro-rich.				cellular response to cycloheximide (GO:0071409)|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 peptide (GO:1901653)|epidermal cell differentiation (GO:0009913)|epidermis morphogenesis (GO:0048730)|fat cell differentiation (GO:0045444)|mesodermal cell fate determination (GO:0007500)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000342)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of muscle hyperplasia (GO:0014740)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of hemoglobin biosynthetic process (GO:0046985)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic camera-type eye development (GO:0031077)|post-embryonic hemopoiesis (GO:0035166)|regulation of cell differentiation (GO:0045595)|response to retinoic acid (GO:0032526)|stem cell maintenance (GO:0019827)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|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)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001010)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						GCTGCCAGGGGCGCTCAGCGA	0.701																																																0													10	11	11					9																	110249965		2160	4246	6406	SO:0001583	missense	9314			AF022184	CCDS6770.2	9q31	2013-01-08			ENSG00000136826	ENSG00000136826		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	6348	protein-coding gene	gene with protein product		602253				9422764, 16372018	Standard	NM_004235		Approved	EZF, GKLF	uc004bdg.3	O43474	OTTHUMG00000020449	ENST00000374672.4:c.710C>T	chr9.hg19:g.110249965G>A	ENSP00000363804:p.Ala237Val		B2R8S4|B3KT79|L0R3I6|L0R4N5|P78338|Q5T3J8|Q5T3J9|Q8N717|Q9UNP3	Missense_Mutation	SNP	ENST00000374672.4	hg19	CCDS6770.2	.	.	.	.	.	.	.	.	.	.	G	13.71	2.317561	0.40996	.	.	ENSG00000136826	ENST00000374672;ENST00000411706	T	0.04809	3.55	3.38	3.38	0.38709	.	0.605659	0.13877	N	0.356593	T	0.02119	0.0066	N	0.03608	-0.345	0.21416	N	0.999697	B;B	0.11235	0.004;0.003	B;B	0.12156	0.007;0.004	T	0.40403	-0.9565	10	0.06099	T	0.92	.	10.5918	0.45314	0.0:0.0:1.0:0.0	.	237;237	O43474;O43474-1	KLF4_HUMAN;.	V	237;228	ENSP00000363804:A237V	ENSP00000363804:A237V	A	-	2	0	KLF4	109289786	1.000000	0.71417	0.914000	0.36105	0.647000	0.38526	2.120000	0.41968	2.191000	0.70037	0.655000	0.94253	GCC		0.701	KLF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053556.2	NM_004235		A	110249965	G	A	110249965	3	1	766	1	0	0	0	0	1	0	0	0	8350	1203	42	2	741	2	KLF4	9	110249965	Missense_Mutation	SNP	G	TCGA-MH-A854-01A-11D-A34Z-10	15440466	110249965	30963466	62	45246											
RPL7A	6130	hgsc.bcm.edu	37	9	136216882	136216882	+	Silent	SNP	G	G	T	rs7700	byFrequency	TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr9:136216882G>T	ENST00000323345.6	+	4	420	c.390G>T	c.(388-390)acG>acT	p.T130T	SNORD36A_ENST00000362874.1_RNA|SNORD24_ENST00000383884.1_RNA|MED22_ENST00000471524.1_5'Flank|SURF1_ENST00000495952.1_5'Flank|RPL7A_ENST00000463740.1_3'UTR|SNORD36B_ENST00000363961.1_RNA|SNORD36C_ENST00000516733.1_RNA|MED22_ENST00000476080.1_5'Flank|MED22_ENST00000491289.1_5'Flank|MED22_ENST00000344469.5_5'Flank|MED22_ENST00000371999.1_5'Flank|RPL7A_ENST00000315731.4_Silent_p.T15T|MED22_ENST00000343730.5_5'Flank	NM_000972.2	NP_000963.1	P62424	RL7A_HUMAN	ribosomal protein L7a	130					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 large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			cervix(1)|endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(145;4.93e-07)|Epithelial(140;4.09e-06)|all cancers(34;3.78e-05)		ACGTCCCAACGAAGAGACCAC	0.557																																																0													58	63	61					9																	136216882		2203	4300	6503	SO:0001819	synonymous_variant	6130			BC005128	CCDS6965.1	9q34	2011-04-06			ENSG00000148303	ENSG00000148303		"L ribosomal proteins"	10364	protein-coding gene	gene with protein product	"surfeit 3", "PLA-X polypeptide", "surfeit locus protein 3", "60S ribosomal protein L7a", ";", "thyroid hormone receptor uncoupling protein"	185640				2403926, 2966065	Standard	NM_000972		Approved	SURF3, TRUP, L7A	uc004cde.1	P62424	OTTHUMG00000020864	ENST00000323345.6:c.390G>T	chr9.hg19:g.136216882G>T			P11518|Q5T8U4	Silent	SNP	ENST00000323345.6	hg19	CCDS6965.1																																																																																				0.557	RPL7A-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054869.1	NM_000972		T	136216882	G	T	136216882	2	4	766	1	0	0	0	0	0	0	0	1	13606	1045	37	4		4	RPL7A	9	136216882	Silent	SNP	G	TCGA-MH-A854-01A-11D-A34Z-10	25966917	136216882	4996549	63	45247											
COL5A1	1289	hgsc.bcm.edu	37	9	137710604	137710604	+	Missense_Mutation	SNP	C	C	T			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr9:137710604C>T	ENST00000371817.3	+	55	4747	c.4333C>T	c.(4333-4335)Cct>Tct	p.P1445S		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1445	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)		GATCCCTGGCCCTGTGGTGAG	0.667																																																0													22	23	23					9																	137710604		2203	4297	6500	SO:0001583	missense	1289			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.4333C>T	chr9.hg19:g.137710604C>T	ENSP00000360882:p.Pro1445Ser		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	hg19	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	C	11.73	1.726665	0.30593	.	.	ENSG00000130635	ENST00000371817	D	0.96802	-4.13	4.69	3.79	0.43588	.	0.068028	0.64402	U	0.000012	D	0.94889	0.8348	M	0.78049	2.395	0.53005	D	0.999969	B	0.30914	0.3	B	0.29077	0.098	D	0.92543	0.6043	10	0.29301	T	0.29	.	12.715	0.57109	0.0:0.9191:0.0:0.0809	.	1445	P20908	CO5A1_HUMAN	S	1445	ENSP00000360882:P1445S	ENSP00000360882:P1445S	P	+	1	0	COL5A1	136850425	0.994000	0.37717	0.977000	0.42913	0.632000	0.37999	3.040000	0.49799	0.968000	0.38212	0.448000	0.29417	CCT		0.667	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		T	137710604	C	T	137710604	3	4	766	1	0	0	0	0	1	0	0	0	3698	623	22	2	4551	2	COL5A1	9	137710604	Missense_Mutation	SNP	C	TCGA-MH-A854-01A-11D-A34Z-10	1493722	137710604	3502827	64	45248											
TAF3	83860	hgsc.bcm.edu	37	10	8006138	8006138	+	Frame_Shift_Del	DEL	A	A	-			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr10:8006138delA	ENST00000344293.5	+	3	871	c.665delA	c.(664-666)caafs	p.Q222fs		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	222					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						ATAAATACTCAAAAGATCCCA	0.507																																																0													86	88	87					10																	8006138		1952	4142	6094	SO:0001589	frameshift_variant	83860			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.665delA	chr10.hg19:g.8006138delA	ENSP00000340271:p.Gln222fs		Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Frame_Shift_Del	DEL	ENST00000344293.5	hg19	CCDS41487.1																																																																																				0.507	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046725.1	NM_031923		-	8006138	A	-	8006138	7	5	766	1	0	1	0	1	0	0	0	0	15530	130	5	0	675	0	TAF3	10	8006138	Frame_Shift_Del	DEL	A	TCGA-MH-A854-01A-11D-A34Z-10		8006138	127528609	65	45249											
ANK3	288	hgsc.bcm.edu	37	10	61842390	61842390	+	Missense_Mutation	SNP	G	G	C			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr10:61842390G>C	ENST00000280772.2	-	34	4497	c.4306C>G	c.(4306-4308)Ctg>Gtg	p.L1436V	ANK3_ENST00000373827.2_Missense_Mutation_p.L1430V|ANK3_ENST00000503366.1_Missense_Mutation_p.L1437V|ANK3_ENST00000355288.2_Missense_Mutation_p.L570V|Y_RNA_ENST00000365320.1_RNA	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1436					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						TGTGCTGGCAGAGTGATATTT	0.413																																																0													183	178	180					10																	61842390		2203	4300	6503	SO:0001583	missense	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.4306C>G	chr10.hg19:g.61842390G>C	ENSP00000280772:p.Leu1436Val		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	hg19	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.390947	0.42410	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000373820;ENST00000355288;ENST00000423532;ENST00000503366;ENST00000395299;ENST00000373817;ENST00000395293;ENST00000395304	T;T;D;T;T	0.82344	1.47;1.47;-1.6;1.47;1.47	5.89	4.05	0.47172	.	0.239554	0.21461	N	0.074162	D	0.88851	0.6549	M	0.64080	1.96	0.80722	D	1	B;D;D;B;D;P	0.89917	0.427;0.998;1.0;0.148;0.993;0.956	B;D;D;B;D;D	0.87578	0.342;0.99;0.998;0.089;0.946;0.931	D	0.88474	0.3064	10	0.87932	D	0	.	11.7562	0.51875	0.1961:0.0:0.8039:0.0	.	1437;570;1430;1436;671;570	E9PE32;A8KA62;Q5CZH9;Q12955;F5GXK0;B1AQT2	.;.;.;ANK3_HUMAN;.;.	V	1436;1430;19;570;570;1437;1416;671;1071;1071	ENSP00000280772:L1436V;ENSP00000362933:L1430V;ENSP00000362926:L19V;ENSP00000347436:L570V;ENSP00000425236:L1437V	ENSP00000280772:L1436V	L	-	1	2	ANK3	61512396	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.338000	0.52128	0.835000	0.34877	0.557000	0.71058	CTG		0.413	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		C	61842390	G	C	61842390	3	2	766	1	0	0	0	0	1	0	0	0	622	933	33	4	9180	4	ANK3	10	61842390	Missense_Mutation	SNP	G	TCGA-MH-A854-01A-11D-A34Z-10	53836252	61842390	73692357	66	45250											
PAPSS2	9060	hgsc.bcm.edu	37	10	89474565	89474566	+	Frame_Shift_Ins	INS	-	-	T			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr10:89474565_89474566insT	ENST00000361175.4	+	5	953_954	c.584_585insT	c.(583-588)aatttgfs	p.L196fs	PAPSS2_ENST00000456849.1_Frame_Shift_Ins_p.L196fs|PAPSS2_ENST00000427144.2_Frame_Shift_Ins_p.L200fs	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	196					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|blood coagulation (GO:0007596)|bone development (GO:0060348)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		CTTAAAACCAATTTGTCCACAG	0.401																																																0																																										SO:0001589	frameshift_variant	9060			AF091242	CCDS7385.1, CCDS44453.1	10q24	2008-02-07			ENSG00000198682	ENSG00000198682	2.7.7.4, 2.7.1.25		8604	protein-coding gene	gene with protein product		603005				9771708	Standard	NM_004670		Approved	ATPSK2	uc001kex.3	O95340	OTTHUMG00000018683	ENST00000361175.4:c.587dupT	chr10.hg19:g.89474568_89474568dupT	ENSP00000354436:p.Leu196fs		Q9BZL2|Q9P0G6|Q9UHM1|Q9UKD3|Q9UP30	Frame_Shift_Ins	INS	ENST00000361175.4	hg19	CCDS7385.1																																																																																				0.401	PAPSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049229.1			T	89474566	-	T	89474565	7	5	766	1	0	1	1	0	0	0	0	0	11437	101	4	0	602	0	PAPSS2	10	89474565	Frame_Shift_Ins	INS	-	TCGA-MH-A854-01A-11D-A34Z-10	27632175	89474565	46060182	67	45251											
GBF1	8729	hgsc.bcm.edu	37	10	104126202	104126202	+	Missense_Mutation	SNP	G	G	A			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr10:104126202G>A	ENST00000369983.3	+	19	2629	c.2369G>A	c.(2368-2370)cGt>cAt	p.R790H		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	790	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				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)		GAAGCCTTCCGTTTGCCTGGG	0.547																																																0													124	105	112					10																	104126202		2203	4300	6503	SO:0001583	missense	8729			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.2369G>A	chr10.hg19:g.104126202G>A	ENSP00000359000:p.Arg790His		Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	hg19	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	G	36	5.911085	0.97093	.	.	ENSG00000107862	ENST00000369983	T	0.58210	0.35	6.03	6.03	0.97812	SEC7-like, alpha orthogonal bundle (1);SEC7-like (4);	0.000000	0.85682	D	0.000000	T	0.79240	0.4412	M	0.89163	3.01	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.998	T	0.81497	-0.0906	10	0.87932	D	0	-13.0608	20.5568	0.99304	0.0:0.0:1.0:0.0	.	790;790;790	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	H	790	ENSP00000359000:R790H	ENSP00000359000:R790H	R	+	2	0	GBF1	104116192	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.824000	0.99380	2.861000	0.98227	0.655000	0.94253	CGT		0.547	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			A	104126202	G	A	104126202	3	1	766	1	0	0	0	0	1	0	0	0	6273	1145	40	1	2439	1	GBF1	10	104126202	Missense_Mutation	SNP	G	TCGA-MH-A854-01A-11D-A34Z-10	14651637	104126202	31408545	68	45252											
C10orf118	55088	hgsc.bcm.edu	37	10	115922488	115922488	+	Silent	SNP	T	T	G			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr10:115922488T>G	ENST00000369287.3	-	2	806	c.540A>C	c.(538-540)gtA>gtC	p.V180V	C10orf118_ENST00000369285.3_Silent_p.V180V|C10orf118_ENST00000369286.1_Silent_p.V180V	NM_018017.2	NP_060487.2	Q7Z3E2	CC186_HUMAN		180										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		TTCCATTTGGTACTCGATGTT	0.333																																																0													76	72	73					10																	115922488		2202	4298	6500	SO:0001819	synonymous_variant	55088																														ENST00000369287.3:c.540A>C	chr10.hg19:g.115922488T>G			Q2M2V6|Q3ZB81|Q6NS91|Q7RTP1|Q8N117|Q8N3G3|Q8N6C2|Q9NWA3	Silent	SNP	ENST00000369287.3	hg19	CCDS7587.1																																																																																				0.333	C10orf118-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050455.1			G	115922488	T	G	115922488	2	3	766	1	0	0	0	0	0	0	0	1	1589	1625	57	5		5	C10orf118	10	115922488	Silent	SNP	T	TCGA-MH-A854-01A-11D-A34Z-10	11796286	115922488	19612259	69	45253											
PSMC3	5702	hgsc.bcm.edu	37	11	47446781	47446781	+	Missense_Mutation	SNP	A	A	G			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr11:47446781A>G	ENST00000298852.3	-	3	333	c.176T>C	c.(175-177)gTg>gCg	p.V59A	PSMC3_ENST00000530912.1_Intron|PSMC3_ENST00000602866.1_Missense_Mutation_p.V43A	NM_002804.4	NP_002795.2	P17980	PRS6A_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 3	59					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of RNA biosynthetic process (GO:2001141)|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)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)|urinary_tract(1)	17				Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GACTCTCAACACTTCACTCTT	0.478																																																0													195	170	178					11																	47446781		2201	4298	6499	SO:0001583	missense	5702			M34079	CCDS7935.1	11p11.2	2010-04-21			ENSG00000165916	ENSG00000165916		"Proteasome (prosome, macropain) subunits", "ATPases / AAA-type"	9549	protein-coding gene	gene with protein product		186852				9048938, 9473509	Standard	NM_002804		Approved	TBP1, TBP-1	uc001nfh.2	P17980	OTTHUMG00000167692	ENST00000298852.3:c.176T>C	chr11.hg19:g.47446781A>G	ENSP00000298852:p.Val59Ala		B2R8V1|Q3B757|Q3B865|Q53HU5|Q6GPG8|Q6IBS1|Q96HD3	Missense_Mutation	SNP	ENST00000298852.3	hg19	CCDS7935.1	.	.	.	.	.	.	.	.	.	.	A	14.56	2.572615	0.45798	.	.	ENSG00000165916	ENST00000298852;ENST00000524447;ENST00000531051;ENST00000530887;ENST00000530651;ENST00000527906;ENST00000526993;ENST00000531653;ENST00000528362	D	0.94417	-3.42	5.5	5.5	0.81552	.	0.176985	0.48767	D	0.000178	D	0.92014	0.7470	L	0.53249	1.67	0.58432	D	0.999999	B	0.25441	0.126	B	0.24701	0.055	D	0.89317	0.3637	10	0.17369	T	0.5	-33.9881	15.6076	0.76685	1.0:0.0:0.0:0.0	.	59	P17980	PRS6A_HUMAN	A	59;24;24;24;24;24;67;43;43	ENSP00000298852:V59A	ENSP00000298852:V59A	V	-	2	0	PSMC3	47403357	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.576000	0.82467	2.094000	0.63399	0.454000	0.30748	GTG		0.478	PSMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395660.2	NM_002804		G	47446781	A	G	47446781	3	3	766	1	0	0	0	0	1	0	0	0	12692	159	6	3	1183	3	PSMC3	11	47446781	Missense_Mutation	SNP	A	TCGA-MH-A854-01A-11D-A34Z-10		47446781	87559735	70	45254											
B3GAT3	26229	hgsc.bcm.edu	37	11	62388048	62388048	+	Missense_Mutation	SNP	G	G	A	rs374687580		TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr11:62388048G>A	ENST00000265471.5	-	2	405	c.178C>T	c.(178-180)Cgg>Tgg	p.R60W	B3GAT3_ENST00000534026.1_Missense_Mutation_p.R60W|B3GAT3_ENST00000531383.1_Missense_Mutation_p.R60W	NM_012200.3	NP_036332.2	O94766	B3GA3_HUMAN	beta-1,3-glucuronyltransferase 3	60					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|glucuronosyltransferase activity (GO:0015020)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						GGGGGTGGCCGTCGGAGTTCC	0.637																																																0													20	27	24					11																	62388048		2202	4293	6495	SO:0001583	missense	26229			AB009598	CCDS8025.1	11q12	2014-07-08	2014-07-08		ENSG00000149541	ENSG00000149541	2.4.1.135	"Beta-1,3-glucuronyltransferases"	923	protein-coding gene	gene with protein product	"glucuronosyltransferase I", "galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3"	606374	"beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)"			9506957	Standard	NM_012200		Approved	GlcAT-I	uc001ntw.3	O94766	OTTHUMG00000167685	ENST00000265471.5:c.178C>T	chr11.hg19:g.62388048G>A	ENSP00000265471:p.Arg60Trp		B7ZAB3|Q96I06|Q9UEP0	Missense_Mutation	SNP	ENST00000265471.5	hg19	CCDS8025.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.668430	0.88348	.	.	ENSG00000149541	ENST00000265471;ENST00000531383;ENST00000534026;ENST00000534715	T;T;T;T	0.66460	-0.18;-0.19;-0.21;0.75	5.53	5.53	0.82687	.	0.436137	0.23323	N	0.049434	T	0.75184	0.3815	L	0.44542	1.39	0.49687	D	0.999812	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.66979	0.948;0.948;0.824	T	0.76509	-0.2933	10	0.66056	D	0.02	.	14.9659	0.71193	0.0:0.0:1.0:0.0	.	60;66;60	B7ZAB3;Q5U676;O94766	.;.;B3GA3_HUMAN	W	60;60;60;83	ENSP00000265471:R60W;ENSP00000431359:R60W;ENSP00000432474:R60W;ENSP00000432854:R83W	ENSP00000265471:R60W	R	-	1	2	B3GAT3	62144624	0.941000	0.31946	0.966000	0.40874	0.882000	0.50991	2.038000	0.41184	2.599000	0.87857	0.655000	0.94253	CGG		0.637	B3GAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395588.1	NM_012200		A	62388048	G	A	62388048	3	1	766	1	0	0	0	0	1	0	0	0	1255	1144	40	1	845	1	B3GAT3	11	62388048	Missense_Mutation	SNP	G	TCGA-MH-A854-01A-11D-A34Z-10	14941267	62388048	72618468	71	45255											
LRRC32	2615	hgsc.bcm.edu	37	11	76371152	76371152	+	Silent	SNP	G	G	A			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr11:76371152G>A	ENST00000407242.2	-	3	1727	c.1485C>T	c.(1483-1485)gtC>gtT	p.V495V	LRRC32_ENST00000404995.1_Silent_p.V495V|LRRC32_ENST00000464145.1_Intron|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000260061.5_Silent_p.V495V	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	495					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						GCAGTGCCAGGACCTCCAAGG	0.647																																																0													27	28	27					11																	76371152		2200	4292	6492	SO:0001819	synonymous_variant	2615			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.1485C>T	chr11.hg19:g.76371152G>A			Q86V06	Silent	SNP	ENST00000407242.2	hg19	CCDS8245.1																																																																																				0.647	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257926.2	NM_005512		A	76371152	G	A	76371152	2	1	766	1	0	0	0	0	0	0	0	1	8989	1161	41	2		2	LRRC32	11	76371152	Silent	SNP	G	TCGA-MH-A854-01A-11D-A34Z-10	13983104	76371152	58635364	72	45256											
CACNA2D4	93589	hgsc.bcm.edu	37	12	1993454	1993454	+	Missense_Mutation	SNP	C	C	T			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr12:1993454C>T	ENST00000382722.5	-	12	1668	c.1306G>A	c.(1306-1308)Gtg>Atg	p.V436M	CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.V372M|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.V436M|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.V436M|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.V372M	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	436	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)		GCAAAAGACACTTCTCTCCCA	0.502																																					Colon(2;101 179 21030 23310 28141)											0													72	80	77					12																	1993454		2051	4204	6255	SO:0001583	missense	93589			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.1306G>A	chr12.hg19:g.1993454C>T	ENSP00000372169:p.Val436Met		Q7Z3S8|Q86XZ5|Q8IZS9	Missense_Mutation	SNP	ENST00000382722.5	hg19	CCDS44785.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.283451	0.40394	.	.	ENSG00000151062	ENST00000456077;ENST00000280663;ENST00000382722	T	0.08282	3.11	5.27	5.27	0.74061	von Willebrand factor, type A (3);	0.107037	0.64402	D	0.000003	T	0.09598	0.0236	L	0.28556	0.865	0.80722	D	1	B	0.12013	0.005	B	0.20384	0.029	T	0.15292	-1.0442	10	0.49607	T	0.09	.	18.8984	0.92433	0.0:1.0:0.0:0.0	.	436	Q7Z3S7	CA2D4_HUMAN	M	372;436;436	ENSP00000372169:V436M	ENSP00000280663:V436M	V	-	1	0	CACNA2D4	1863715	1.000000	0.71417	0.976000	0.42696	0.827000	0.46813	3.017000	0.49615	2.463000	0.83235	0.603000	0.83216	GTG		0.502	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2			T	1993454	C	T	1993454	3	4	766	1	0	0	0	0	1	0	0	0	2553	565	20	2	2215	2	CACNA2D4	12	1993454	Missense_Mutation	SNP	C	TCGA-MH-A854-01A-11D-A34Z-10		1993454	131858441	73	45257											
NCAPD2	9918	hgsc.bcm.edu	37	12	6639960	6639960	+	Missense_Mutation	SNP	C	C	A			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr12:6639960C>A	ENST00000315579.5	+	30	4740	c.3941C>A	c.(3940-3942)cCa>cAa	p.P1314Q	RP5-940J5.3_ENST00000537921.1_RNA|NCAPD2_ENST00000545962.1_Missense_Mutation_p.P1269Q	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	1314					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						CAGAGAGCGCCATCAGCCAAG	0.512																																																0													62	64	63					12																	6639960		2203	4300	6503	SO:0001583	missense	9918			D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"chromosome condensation related SMC associated protein 1"	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.3941C>A	chr12.hg19:g.6639960C>A	ENSP00000325017:p.Pro1314Gln		D3DUR4|Q8N6U3	Missense_Mutation	SNP	ENST00000315579.5	hg19	CCDS8548.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.068903	0.36470	.	.	ENSG00000010292	ENST00000315579;ENST00000545962	T;T	0.17854	2.52;2.25	5.63	2.8	0.32819	.	0.513361	0.21089	N	0.080360	T	0.11024	0.0269	L	0.38838	1.175	0.09310	N	1	B;B	0.21071	0.025;0.051	B;B	0.18871	0.023;0.008	T	0.32455	-0.9906	10	0.22109	T	0.4	-3.6593	4.7752	0.13175	0.2099:0.5563:0.0:0.2337	.	1269;1314	F5GZJ1;Q15021	.;CND1_HUMAN	Q	1314;1269	ENSP00000325017:P1314Q;ENSP00000444417:P1269Q	ENSP00000325017:P1314Q	P	+	2	0	NCAPD2	6510221	0.000000	0.05858	0.403000	0.26384	0.250000	0.25880	0.275000	0.18698	0.305000	0.22832	0.561000	0.74099	CCA		0.512	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1	NM_014865		A	6639960	C	A	6639960	3	1	766	1	0	0	0	0	1	0	0	0	10207	594	21	4	4055	4	NCAPD2	12	6639960	Missense_Mutation	SNP	C	TCGA-MH-A854-01A-11D-A34Z-10	4646506	6639960	127211935	74	45258											
GPR162	27239	hgsc.bcm.edu	37	12	6933104	6933104	+	Missense_Mutation	SNP	C	C	T			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr12:6933104C>T	ENST00000311268.3	+	2	827	c.40C>T	c.(40-42)Cgc>Tgc	p.R14C	GPR162_ENST00000382315.3_Intron|GPR162_ENST00000428545.2_Intron|GPR162_ENST00000541431.1_Intron	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	14						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						GGCCTCCCTGCGCTCCAACGC	0.682																																																0													11	11	11					12																	6933104		2197	4291	6488	SO:0001583	missense	27239			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.40C>T	chr12.hg19:g.6933104C>T	ENSP00000311528:p.Arg14Cys		Q16664|Q59EH5|Q66K56	Missense_Mutation	SNP	ENST00000311268.3	hg19	CCDS8563.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.557714	0.65425	.	.	ENSG00000250510	ENST00000311268	T	0.09073	3.02	4.74	4.74	0.60224	.	.	.	.	.	T	0.07773	0.0195	N	0.08118	0	0.80722	D	1	D;D	0.76494	0.999;0.993	P;B	0.50490	0.642;0.348	T	0.36040	-0.9764	9	0.54805	T	0.06	.	12.9402	0.58337	0.162:0.838:0.0:0.0	.	14;14	B7Z3U3;Q16538	.;GP162_HUMAN	C	14	ENSP00000311528:R14C	ENSP00000311528:R14C	R	+	1	0	GPR162	6803365	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	3.946000	0.56644	2.464000	0.83262	0.561000	0.74099	CGC		0.682	GPR162-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399478.1	NM_019858		T	6933104	C	T	6933104	3	4	766	1	0	0	0	0	1	0	0	0	6668	768	27	1	61	1	GPR162	12	6933104	Missense_Mutation	SNP	C	TCGA-MH-A854-01A-11D-A34Z-10	293144	6933104	126918791	75	45259											
KRAS	3845	hgsc.bcm.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	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)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"L, E, M, O"	15813	Substitution - Missense(15812)|Deletion - Frameshift(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)											91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	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	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>T	chr12.hg19:g.25398284C>A	ENSP00000256078:p.Gly12Val		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	hg19	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	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		A	25398284	C	A	25398284	3	1	766	1	0	0	0	0	1	0	0	0	8440	507	18	4	671	4	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-MH-A854-01A-11D-A34Z-10	18465180	25398284	108453611	76	45260											
KRT83	3889	hgsc.bcm.edu	37	12	52710705	52710705	+	Missense_Mutation	SNP	C	C	A			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr12:52710705C>A	ENST00000293670.3	-	5	915	c.853G>T	c.(853-855)Gca>Tca	p.A285S		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	285	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)		TCATACTGTGCCTTGATCTCG	0.582																																					GBM(41;747 834 12702 24089 39393)|Esophageal Squamous(97;805 1414 12559 28198 31861)											0													174	143	154					12																	52710705		2203	4300	6503	SO:0001583	missense	3889			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.853G>T	chr12.hg19:g.52710705C>A	ENSP00000293670:p.Ala285Ser		A1A4S9|B2RC21|Q6NT21|Q9NSB3	Missense_Mutation	SNP	ENST00000293670.3	hg19	CCDS8823.1	.	.	.	.	.	.	.	.	.	.	C	16.60	3.168355	0.57584	.	.	ENSG00000170523	ENST00000293670	T	0.76578	-1.03	3.9	3.9	0.45041	Filament (1);	0.184777	0.25490	U	0.030304	T	0.82107	0.4965	M	0.71581	2.175	0.38260	D	0.941851	P	0.36465	0.554	P	0.45506	0.483	D	0.86574	0.1849	10	0.66056	D	0.02	.	16.2457	0.82445	0.0:1.0:0.0:0.0	.	285	P78385	KRT83_HUMAN	S	285	ENSP00000293670:A285S	ENSP00000293670:A285S	A	-	1	0	KRT83	50996972	1.000000	0.71417	0.999000	0.59377	0.344000	0.29017	5.625000	0.67770	1.894000	0.54839	0.561000	0.74099	GCA		0.582	KRT83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405182.1	NM_002282		A	52710705	C	A	52710705	3	1	766	1	0	0	0	0	1	0	0	0	8499	739	26	4	648	4	KRT83	12	52710705	Missense_Mutation	SNP	C	TCGA-MH-A854-01A-11D-A34Z-10	27312421	52710705	81141190	77	45261											
MYF6	4618	hgsc.bcm.edu	37	12	81102003	81102003	+	Frame_Shift_Del	DEL	C	C	-			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr12:81102003delC	ENST00000228641.3	+	1	727	c.505delC	c.(505-507)cccfs	p.P169fs		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	169				P -> S (in Ref. 3; CAG46563). {ECO:0000305}.	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						CAGCTACAGACCCAAACAAGA	0.577																																																0													32	36	35					12																	81102003		2201	4297	6498	SO:0001589	frameshift_variant	4618				CCDS9019.1	12q21	2013-05-21				ENSG00000111046		"Basic helix-loop-helix proteins"	7566	protein-coding gene	gene with protein product	"muscle-specific regulatory factor 4"	159991				8978788	Standard	NM_002469		Approved	MRF4, bHLHc4	uc001szf.2	P23409		ENST00000228641.3:c.505delC	chr12.hg19:g.81102003delC	ENSP00000228641:p.Pro169fs		B2R898|Q53X80|Q6FHI9	Frame_Shift_Del	DEL	ENST00000228641.3	hg19	CCDS9019.1																																																																																				0.577	MYF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407756.1	NM_002469		-	81102003	C	-	81102003	7	5	766	1	0	1	0	1	0	0	0	0	10030	507	18	0	507	0	MYF6	12	81102003	Frame_Shift_Del	DEL	C	TCGA-MH-A854-01A-11D-A34Z-10	28391298	81102003	52749892	78	45262											
KDM2B	84678	hgsc.bcm.edu	37	12	121881963	121881963	+	Missense_Mutation	SNP	C	C	T			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr12:121881963C>T	ENST00000377071.4	-	16	2375	c.2303G>A	c.(2302-2304)aGt>aAt	p.S768N	KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000542973.1_Missense_Mutation_p.S136N|KDM2B_ENST00000377069.4_Missense_Mutation_p.S737N	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	768					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						CTCACACTCACTCCTCCGCTT	0.632											OREG0022201	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													82	86	85					12																	121881963		2058	4202	6260	SO:0001583	missense	84678			AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"F-boxes / Leucine-rich repeats", "Chromatin-modifying enzymes / K-demethylases"	13610	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1B"	609078	"F-box and leucine-rich repeat protein 10"	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.2303G>A	chr12.hg19:g.121881963C>T	ENSP00000366271:p.Ser768Asn	1514	A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	ENST00000377071.4	hg19	CCDS41850.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.077467	0.36662	.	.	ENSG00000089094	ENST00000397480;ENST00000542973;ENST00000377069;ENST00000377071;ENST00000540043;ENST00000261824	T;T;T	0.24151	2.2;2.47;1.87	5.95	5.04	0.67666	.	0.487539	0.19689	N	0.108332	T	0.12944	0.0314	N	0.08118	0	0.80722	D	1	B;B;B;B	0.28128	0.054;0.055;0.201;0.128	B;B;B;B	0.18871	0.016;0.008;0.023;0.023	T	0.12041	-1.0563	10	0.17832	T	0.49	-2.6873	13.955	0.64142	0.2761:0.7239:0.0:0.0	.	208;768;737;211	B7ZB05;Q8NHM5;A8MRS1;B4DSN4	.;KDM2B_HUMAN;.;.	N	768;136;737;768;211;771	ENSP00000437821:S136N;ENSP00000366269:S737N;ENSP00000366271:S768N	ENSP00000261824:S771N	S	-	2	0	KDM2B	120366346	0.986000	0.35501	0.968000	0.41197	0.715000	0.41141	2.987000	0.49378	1.461000	0.47929	0.655000	0.94253	AGT		0.632	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590		T	121881963	C	T	121881963	3	4	766	1	0	0	0	0	1	0	0	0	8127	565	20	2	1791	2	KDM2B	12	121881963	Missense_Mutation	SNP	C	TCGA-MH-A854-01A-11D-A34Z-10	40779960	121881963	11969932	79	45263											
GPR109A	338442	hgsc.bcm.edu	37	12	123187139	123187139	+	Missense_Mutation	SNP	G	G	T			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr12:123187139G>T	ENST00000328880.5	-	1	751	c.692C>A	c.(691-693)aCc>aAc	p.T231N	RP11-324E6.6_ENST00000543611.1_lincRNA|HCAR1_ENST00000356987.2_Intron	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN	hydroxycarboxylic acid receptor 2	231					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)	CATGATGAAGGTGATGGCTCT	0.567																																																0													72	61	65					12																	123187139		2203	4297	6500	SO:0001583	missense	338442			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.692C>A	chr12.hg19:g.123187139G>T	ENSP00000375066:p.Thr231Asn		A0PJL5|A7LGG3	Missense_Mutation	SNP	ENST00000328880.5	hg19	CCDS9235.1	.	.	.	.	.	.	.	.	.	.	G	4.367	0.067602	0.08436	.	.	ENSG00000182782	ENST00000328880;ENST00000536970	T	0.37584	1.19	4.97	0.684	0.18003	GPCR, rhodopsin-like superfamily (1);	0.595355	0.15261	N	0.271792	T	0.10294	0.0252	N	0.00879	-1.12	0.18873	N	0.999981	B	0.02656	0.0	B	0.06405	0.002	T	0.23976	-1.0173	10	0.39692	T	0.17	-13.1354	4.7774	0.13185	0.0:0.2263:0.1698:0.6039	.	231	Q8TDS4	HCAR2_HUMAN	N	231	ENSP00000375066:T231N	ENSP00000375066:T231N	T	-	2	0	HCAR2	121753092	0.000000	0.05858	0.962000	0.40283	0.413000	0.31143	-0.028000	0.12350	0.136000	0.18733	-0.457000	0.05445	ACC		0.567	HCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370202.1	NM_177551		T	123187139	G	T	123187139	3	4	766	1	0	0	0	0	1	0	0	0	6627	1261	44	4	403	4	GPR109A	12	123187139	Missense_Mutation	SNP	G	TCGA-MH-A854-01A-11D-A34Z-10	1305176	123187139	10664756	80	45264											
XPO4	64328	hgsc.bcm.edu	37	13	21370348	21370348	+	Silent	SNP	C	C	G			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr13:21370348C>G	ENST00000255305.6	-	18	2735	c.2664G>C	c.(2662-2664)gtG>gtC	p.V888V	XPO4_ENST00000400602.2_Silent_p.V888V			Q9C0E2	XPO4_HUMAN	exportin 4	888					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)		TCTTAGAATACACTTGCAACA	0.353																																																0													103	90	94					13																	21370348		1817	4081	5898	SO:0001819	synonymous_variant	64328			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.2664G>C	chr13.hg19:g.21370348C>G			Q5VUZ5|Q8N3V6|Q9H934	Silent	SNP	ENST00000255305.6	hg19	CCDS41872.1																																																																																				0.353	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044096.1	NM_022459		G	21370348	C	G	21370348	2	3	766	1	0	0	0	0	0	0	0	1	17451	465	17	4		4	XPO4	13	21370348	Silent	SNP	C	TCGA-MH-A854-01A-11D-A34Z-10		21370348	93799530	81	45265											
SMAD9	4093	hgsc.bcm.edu	37	13	37427774	37427774	+	Missense_Mutation	SNP	C	C	T	rs375386551		TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr13:37427774C>T	ENST00000399275.2	-	5	1181	c.1042G>A	c.(1042-1044)Gag>Aag	p.E348K	SMAD9_ENST00000350148.5_Missense_Mutation_p.E311K|SMAD9_ENST00000379826.4_Missense_Mutation_p.E348K			O15198	SMAD9_HUMAN	SMAD family member 9	348	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)		CTCACGCACTCGGCATACACC	0.562																																																0								C	LYS/GLU,LYS/GLU	0,4406		0,0,2203	148	92	111		1042,931	5.5	1	13		111	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SMAD9	NM_001127217.2,NM_005905.5	56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	348/468,311/431	37427774	1,13005	2203	4300	6503	SO:0001583	missense	4093				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.1042G>A	chr13.hg19:g.37427774C>T	ENSP00000382216:p.Glu348Lys		A2A2Y6|O14989|Q5TBA1	Missense_Mutation	SNP	ENST00000399275.2	hg19	CCDS45032.1	.	.	.	.	.	.	.	.	.	.	C	35	5.571853	0.96553	0.0	1.16E-4	ENSG00000120693	ENST00000399275;ENST00000350148;ENST00000379826	D;D;D	0.97455	-4.39;-4.28;-4.39	5.54	5.54	0.83059	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.97517	0.9187	M	0.81614	2.55	0.80722	D	1	P;D	0.56035	0.888;0.974	B;P	0.49301	0.325;0.606	D	0.97979	1.0348	10	0.62326	D	0.03	.	18.4694	0.90767	0.0:1.0:0.0:0.0	.	311;348	O15198-2;O15198	.;SMAD9_HUMAN	K	348;311;348	ENSP00000382216:E348K;ENSP00000239885:E311K;ENSP00000369154:E348K	ENSP00000239885:E311K	E	-	1	0	SMAD9	36325774	1.000000	0.71417	0.986000	0.45419	0.933000	0.57130	7.630000	0.83225	2.600000	0.87896	0.655000	0.94253	GAG		0.562	SMAD9-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044525.2	NM_005905		T	37427774	C	T	37427774	3	4	766	1	0	0	0	0	1	0	0	0	14770	893	31	1	369	1	SMAD9	13	37427774	Missense_Mutation	SNP	C	TCGA-MH-A854-01A-11D-A34Z-10	16057426	37427774	77742104	82	45266											
FAM124A	220108	hgsc.bcm.edu	37	13	51825756	51825756	+	Missense_Mutation	SNP	C	C	T			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr13:51825756C>T	ENST00000322475.8	+	3	388	c.253C>T	c.(253-255)Cgg>Tgg	p.R85W	FAM124A_ENST00000280057.6_Missense_Mutation_p.R121W	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	85										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)		GTCCGAGAGGCGGGCGTCCCG	0.697																																																0													11	11	11					13																	51825756		2185	4266	6451	SO:0001583	missense	220108			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.253C>T	chr13.hg19:g.51825756C>T	ENSP00000324625:p.Arg85Trp		A2A324|Q8N8P9|Q8NE66|Q96NJ9	Missense_Mutation	SNP	ENST00000322475.8	hg19	CCDS55900.1	.	.	.	.	.	.	.	.	.	.	C	12.44	1.938493	0.34189	.	.	ENSG00000150510	ENST00000322475;ENST00000280057	T;T	0.46063	0.88;0.88	5.79	-0.131	0.13494	.	0.245963	0.38720	N	0.001584	T	0.56217	0.1970	M	0.63843	1.955	0.33264	D	0.560112	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.984;0.997	T	0.64807	-0.6320	10	0.72032	D	0.01	-3.7704	10.7279	0.46079	0.2612:0.5921:0.1467:0.0	.	85;121;85	Q86V42;Q86V42-2;Q86V42-3	F124A_HUMAN;.;.	W	85;121	ENSP00000324625:R85W;ENSP00000280057:R121W	ENSP00000280057:R121W	R	+	1	2	FAM124A	50723757	0.880000	0.30214	0.002000	0.10522	0.008000	0.06430	0.233000	0.17911	-0.243000	0.09653	-0.176000	0.13171	CGG		0.697	FAM124A-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045019.3	NM_145019		T	51825756	C	T	51825756	3	4	766	1	0	0	0	0	1	0	0	0	5427	759	27	1	375	1	FAM124A	13	51825756	Missense_Mutation	SNP	C	TCGA-MH-A854-01A-11D-A34Z-10	14397982	51825756	63344122	83	45267											
CARKD	55739	hgsc.bcm.edu	37	13	111279816	111279816	+	Missense_Mutation	SNP	G	G	T	rs553217045	byFrequency	TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr13:111279816G>T	ENST00000309957.2	+	5	431	c.417G>T	c.(415-417)gaG>gaT	p.E139D	CARKD_ENST00000458711.2_Intron|CARKD_ENST00000424185.2_Missense_Mutation_p.E29D|CARKD_ENST00000397191.4_Missense_Mutation_p.E76D|CARKD_ENST00000470164.2_3'UTR	NM_001242881.1|NM_018210.3	NP_001229810.1|NP_060680.2			carbohydrate kinase domain containing											NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	15						ATGAGGTGGAGAAGTGGCTGC	0.478																																																0													117	98	104					13																	111279816		2203	4300	6503	SO:0001583	missense	55739			AF151071	CCDS9513.1, CCDS55903.1	13q34	2008-12-19			ENSG00000213995	ENSG00000213995			25576	protein-coding gene	gene with protein product		615910					Standard	NM_018210		Approved	LP3298, FLJ10769	uc001vrc.3	Q8IW45	OTTHUMG00000017345	ENST00000309957.2:c.417G>T	chr13.hg19:g.111279816G>T	ENSP00000311984:p.Glu139Asp			Missense_Mutation	SNP	ENST00000309957.2	hg19	CCDS9513.1	.	.	.	.	.	.	.	.	.	.	G	7.687	0.690257	0.15039	.	.	ENSG00000213995	ENST00000424185;ENST00000439607;ENST00000397191;ENST00000309957	T;T;T	0.21932	1.98;1.98;1.98	5.13	-7.72	0.01250	Uncharacterised domain, carbohydrate kinase-related (3);	0.167564	0.51477	D	0.000087	T	0.06872	0.0175	N	0.17594	0.5	0.23492	N	0.997562	B;B;B;B;B	0.19200	0.004;0.002;0.034;0.005;0.002	B;B;B;B;B	0.21360	0.007;0.012;0.034;0.012;0.012	T	0.24333	-1.0163	10	0.15952	T	0.53	-16.6414	3.5533	0.07855	0.4722:0.2722:0.1641:0.0915	.	29;121;76;139;139	Q8IW45-4;B4DKX7;B7Z3Q0;Q8IW45-2;Q8IW45	.;.;.;.;CARKD_HUMAN	D	29;121;76;139	ENSP00000413191:E29D;ENSP00000380375:E76D;ENSP00000311984:E139D	ENSP00000311984:E139D	E	+	3	2	CARKD	110077817	0.116000	0.22171	0.001000	0.08648	0.319000	0.28217	-0.813000	0.04491	-1.320000	0.02283	-0.367000	0.07326	GAG		0.478	CARKD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045764.1	NM_018210		T	111279816	G	T	111279816	3	4	766	1	0	0	0	0	1	0	0	0	2656	933	33	4	435	4	CARKD	13	111279816	Missense_Mutation	SNP	G	TCGA-MH-A854-01A-11D-A34Z-10	59454060	111279816	3890062	84	45268											
ZNF828	283489	hgsc.bcm.edu	37	13	115089604	115089604	+	Missense_Mutation	SNP	A	A	G			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr13:115089604A>G	ENST00000361283.1	+	3	596	c.287A>G	c.(286-288)aAa>aGa	p.K96R		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	96					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)										GATAAACCAAAAAATCAGTTG	0.408																																																0													71	72	72					13																	115089604		2203	4300	6503	SO:0001583	missense	283489			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.287A>G	chr13.hg19:g.115089604A>G	ENSP00000354730:p.Lys96Arg		B3KU06|Q6P181|Q8NC88|Q9BST0	Missense_Mutation	SNP	ENST00000361283.1	hg19	CCDS9545.1	.	.	.	.	.	.	.	.	.	.	A	19.56	3.851053	0.71719	.	.	ENSG00000198824	ENST00000361283	T	0.01516	4.81	5.96	4.76	0.60689	.	0.095542	0.45361	D	0.000361	T	0.02047	0.0064	L	0.32530	0.975	0.34976	D	0.753647	P	0.51537	0.946	B	0.41860	0.368	T	0.62483	-0.6845	9	.	.	.	-12.7091	12.2897	0.54810	0.9335:0.0:0.0665:0.0	.	96	Q96JM3	ZN828_HUMAN	R	96	ENSP00000354730:K96R	.	K	+	2	0	ZNF828	114107706	1.000000	0.71417	0.793000	0.32043	0.806000	0.45545	3.930000	0.56522	1.046000	0.40249	0.533000	0.62120	AAA		0.408	CHAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045977.2	NM_032436		G	115089604	A	G	115089604	3	3	766	1	0	0	0	0	1	0	0	0	18186	14	1	3	289	3	ZNF828	13	115089604	Missense_Mutation	SNP	A	TCGA-MH-A854-01A-11D-A34Z-10	3809788	115089604	80274	85	45269											
SPTLC2	9517	hgsc.bcm.edu	37	14	78021667	78021667	+	Silent	SNP	A	A	G			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr14:78021667A>G	ENST00000216484.2	-	8	1345	c.1152T>C	c.(1150-1152)tcT>tcC	p.S384S	SPTLC2_ENST00000556264.1_5'Flank	NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2	384					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)	TATATCCTCCAGAAGCACCAA	0.502																																																0													127	129	129					14																	78021667		2203	4300	6503	SO:0001819	synonymous_variant	9517			AB011098	CCDS9865.1	14q24.3	2014-09-17			ENSG00000100596	ENSG00000100596	2.3.1.50		11278	protein-coding gene	gene with protein product		605713				8921873, 9363775	Standard	NM_004863		Approved	KIAA0526, LCB2, LCB2A, hLCB2a	uc001xub.3	O15270		ENST00000216484.2:c.1152T>C	chr14.hg19:g.78021667A>G			Q16685	Silent	SNP	ENST00000216484.2	hg19	CCDS9865.1	.	.	.	.	.	.	.	.	.	.	A	9.959	1.222330	0.22457	.	.	ENSG00000100596	ENST00000554901	.	.	.	4.8	3.62	0.41486	.	.	.	.	.	T	0.59649	0.2209	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55829	-0.8079	4	.	.	.	-1.2399	9.9746	0.41774	0.7231:0.0:0.0:0.2769	.	.	.	.	R	321	.	.	W	-	1	0	SPTLC2	77091420	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	1.726000	0.38085	0.930000	0.37217	0.477000	0.44152	TGG		0.502	SPTLC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414030.1	NM_004863		G	78021667	A	G	78021667	2	3	766	1	0	0	0	0	0	0	0	1	15129	175	7	3		3	SPTLC2	14	78021667	Silent	SNP	A	TCGA-MH-A854-01A-11D-A34Z-10		78021667	29327873	86	45270											
TCF12	6938	hgsc.bcm.edu	37	15	57484401	57484401	+	Missense_Mutation	SNP	C	C	A			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr15:57484401C>A	ENST00000267811.5	+	7	740	c.436C>A	c.(436-438)Cta>Ata	p.L146I	TCF12_ENST00000557843.1_Missense_Mutation_p.L146I|TCF12_ENST00000333725.5_Missense_Mutation_p.L146I|TCF12_ENST00000452095.2_Missense_Mutation_p.L142I|TCF12_ENST00000438423.2_Missense_Mutation_p.L146I	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	146					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)		CCCAGCACAGCTATCTTCTTC	0.473			T	TEC	extraskeletal myxoid chondrosarcoma																																		Dom	yes		15	15q21	6938	"transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"		M	0													93	94	94					15																	57484401		2192	4292	6484	SO:0001583	missense	6938			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.436C>A	chr15.hg19:g.57484401C>A	ENSP00000267811:p.Leu146Ile		Q7Z3D9|Q86TC1|Q86VM2	Missense_Mutation	SNP	ENST00000267811.5	hg19	CCDS10159.1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.309405	0.40895	.	.	ENSG00000140262	ENST00000543236;ENST00000267811;ENST00000438423;ENST00000452095;ENST00000333725	T;T;T;T	0.55234	0.53;0.53;0.53;0.53	5.57	2.22	0.28083	.	0.065136	0.64402	D	0.000010	T	0.55321	0.1913	L	0.41356	1.27	0.36082	D	0.842877	D;P;P;P	0.58268	0.982;0.587;0.478;0.612	D;B;B;B	0.67548	0.952;0.177;0.069;0.144	T	0.57556	-0.7791	10	0.27082	T	0.32	-7.5425	7.2908	0.26364	0.1392:0.6718:0.0:0.189	.	142;198;146;146	E9PGY0;F5H6Z6;Q99081;Q99081-3	.;.;HTF4_HUMAN;.	I	198;146;146;142;146	ENSP00000267811:L146I;ENSP00000388940:L146I;ENSP00000396881:L142I;ENSP00000331057:L146I	ENSP00000267811:L146I	L	+	1	2	TCF12	55271693	0.994000	0.37717	0.998000	0.56505	0.986000	0.74619	0.554000	0.23407	0.689000	0.31550	0.561000	0.74099	CTA		0.473	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3	NM_003205		A	57484401	C	A	57484401	3	1	766	1	0	0	0	0	1	0	0	0	15692	796	28	4	458	4	TCF12	15	57484401	Missense_Mutation	SNP	C	TCGA-MH-A854-01A-11D-A34Z-10		57484401	45046991	87	45271											
CLCN7	1186	hgsc.bcm.edu	37	16	1507707	1507707	+	Silent	SNP	C	C	T			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr16:1507707C>T	ENST00000382745.4	-	8	1331	c.726G>A	c.(724-726)ctG>ctA	p.L242L	CLCN7_ENST00000448525.1_Silent_p.L218L|CLCN7_ENST00000262318.8_Silent_p.L218L	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	242					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)				TTCCCACGGCCAGGCCCCCGA	0.632																																																0													79	71	74					16																	1507707		2199	4300	6499	SO:0001819	synonymous_variant	1186			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.726G>A	chr16.hg19:g.1507707C>T			A6NEJ7|A8K5T9|A8K7X1|B3KPN3|E9PDB9|Q9NYX5	Silent	SNP	ENST00000382745.4	hg19	CCDS32361.1																																																																																				0.632	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103598.2	NM_001287		T	1507707	C	T	1507707	2	4	766	1	0	0	0	0	0	0	0	1	3470	581	21	2		2	CLCN7	16	1507707	Silent	SNP	C	TCGA-MH-A854-01A-11D-A34Z-10		1507707	88847046	88	45272											
TSC2	7249	hgsc.bcm.edu	37	16	2098730	2098730	+	Silent	SNP	T	T	C	rs397515078		TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr16:2098730T>C	ENST00000219476.3	+	2	744	c.114T>C	c.(112-114)ttT>ttC	p.F38F	TSC2_ENST00000353929.4_Silent_p.F38F|TSC2_ENST00000350773.4_Silent_p.F38F|TSC2_ENST00000401874.2_Silent_p.F38F|TSC2_ENST00000382538.6_Intron|TSC2_ENST00000568454.1_Silent_p.F49F|TSC2_ENST00000439673.2_Silent_p.F38F|NTHL1_ENST00000219066.1_5'Flank	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	38	Required for interaction with TSC1.				acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				AGACGGAGTTTATCATCACCG	0.498			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																													yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"E, O"	0			GRCh37	CD090959	TSC2	D	rs137854355						174	145	155					16																	2098730		2198	4299	6497	SO:0001819	synonymous_variant	7249	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 160"	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.114T>C	chr16.hg19:g.2098730T>C			A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Silent	SNP	ENST00000219476.3	hg19	CCDS10458.1																																																																																				0.498	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		C	2098730	T	C	2098730	2	2	766	1	0	0	0	0	0	0	0	1	16611	1751	61	3		3	TSC2	16	2098730	Silent	SNP	T	TCGA-MH-A854-01A-11D-A34Z-10	591023	2098730	88256023	89	45273											
SRRM2	23524	hgsc.bcm.edu	37	16	2814755	2814755	+	Missense_Mutation	SNP	C	C	T	rs141353583		TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr16:2814755C>T	ENST00000301740.8	+	11	4775	c.4226C>T	c.(4225-4227)gCt>gTt	p.A1409V		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1409	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						GTGCTTGATGCTGTACCCAGA	0.478																																																0													202	198	199					16																	2814755		2198	4300	6498	SO:0001583	missense	23524			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.4226C>T	chr16.hg19:g.2814755C>T	ENSP00000301740:p.Ala1409Val		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	hg19	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	C	6.871	0.530146	0.13127	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	T	0.25749	1.78	6.17	2.93	0.34026	.	0.538685	0.18243	N	0.147187	T	0.12347	0.0300	N	0.14661	0.345	0.22050	N	0.999392	B	0.09022	0.002	B	0.04013	0.001	T	0.24154	-1.0168	10	0.22109	T	0.4	-3.2971	5.9401	0.19187	0.118:0.5991:0.2041:0.0788	.	1409	Q9UQ35	SRRM2_HUMAN	V	1409;1409;661	ENSP00000301740:A1409V	ENSP00000301740:A1409V	A	+	2	0	SRRM2	2754756	0.061000	0.20836	0.898000	0.35279	0.656000	0.38851	0.077000	0.14738	0.920000	0.36970	-0.136000	0.14681	GCT		0.478	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			T	2814755	C	T	2814755	3	4	766	1	0	0	0	0	1	0	0	0	15174	797	28	2	4264	2	SRRM2	16	2814755	Missense_Mutation	SNP	C	TCGA-MH-A854-01A-11D-A34Z-10	716025	2814755	87539998	90	45274											
GTF3C1	2975	hgsc.bcm.edu	37	16	27480845	27480845	+	Missense_Mutation	SNP	T	T	C			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr16:27480845T>C	ENST00000356183.4	-	32	4856	c.4841A>G	c.(4840-4842)gAt>gGt	p.D1614G	GTF3C1_ENST00000561623.1_Missense_Mutation_p.D1614G	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1614	Asp/Glu-rich (acidic).				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						ATCCTCGTCATCCTCCAGGCT	0.587																																																0													168	145	153					16																	27480845		2197	4300	6497	SO:0001583	missense	2975			U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"General transcription factors"	4664	protein-coding gene	gene with protein product		603246	"general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.4841A>G	chr16.hg19:g.27480845T>C	ENSP00000348510:p.Asp1614Gly		B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	hg19	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	T	12.98	2.100315	0.37048	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.30981	1.51	4.7	4.7	0.59300	.	0.225071	0.37906	N	0.001883	T	0.29749	0.0743	L	0.34521	1.04	0.42457	D	0.992774	P;P	0.42692	0.605;0.787	B;P	0.46585	0.26;0.521	T	0.03384	-1.1042	10	0.21540	T	0.41	-9.7129	13.8623	0.63569	0.0:0.0:0.0:1.0	.	1614;1614	Q12789;Q12789-3	TF3C1_HUMAN;.	G	1614;1610	ENSP00000348510:D1614G	ENSP00000348510:D1614G	D	-	2	0	GTF3C1	27388346	1.000000	0.71417	0.324000	0.25361	0.042000	0.13812	7.485000	0.81204	1.757000	0.51966	0.402000	0.26972	GAT		0.587	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		C	27480845	T	C	27480845	3	2	766	1	0	0	0	0	1	0	0	0	6874	1435	50	3	1512	3	GTF3C1	16	27480845	Missense_Mutation	SNP	T	TCGA-MH-A854-01A-11D-A34Z-10	24666090	27480845	62873908	91	45275											
MT1H	4496	hgsc.bcm.edu	37	16	56704825	56704826	+	Frame_Shift_Ins	INS	-	-	C			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr16:56704825_56704826insC	ENST00000332374.4	+	3	181_182	c.110_111insC	c.(109-114)tgccccfs	p.CP37fs	MT1G_ENST00000444837.2_5'Flank|MT1H_ENST00000569155.1_3'UTR|MT1G_ENST00000379811.3_5'Flank|MT1G_ENST00000569500.1_5'Flank|MT1G_ENST00000568675.1_5'Flank	NM_005951.2	NP_005942.1	P80294	MT1H_HUMAN	metallothionein 1H	37	Alpha.				cellular response to cadmium ion (GO:0071276)|cellular response to zinc ion (GO:0071294)|negative regulation of growth (GO:0045926)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			lung(5)	5						TGCTCCTGTTGCCCCCTGGGCT	0.609																																																0																																										SO:0001589	frameshift_variant	4496			BC008408	CCDS10767.1	16q13	2008-02-05			ENSG00000205358	ENSG00000205358		"Metallothioneins"	7400	protein-coding gene	gene with protein product		156354		MT1		2286373, 8049263	Standard	NM_005951		Approved		uc002ejw.3	P80294	OTTHUMG00000133283	ENST00000332374.4:c.115dupC	chr16.hg19:g.56704830_56704830dupC	ENSP00000330587:p.Cys37fs		B2RUY6	Frame_Shift_Ins	INS	ENST00000332374.4	hg19	CCDS10767.1																																																																																				0.609	MT1H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257063.1	NM_005951		C	56704826	-	C	56704825	7	5	766	1	0	1	1	0	0	0	0	0	9904	1319	46	0	120	0	MT1H	16	56704825	Frame_Shift_Ins	INS	-	TCGA-MH-A854-01A-11D-A34Z-10	29223980	56704825	33649928	92	45276											
NLGN2	57555	hgsc.bcm.edu	37	17	7317791	7317791	+	Missense_Mutation	SNP	A	A	C			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr17:7317791A>C	ENST00000302926.2	+	3	710	c.637A>C	c.(637-639)Aac>Cac	p.N213H	NLGN2_ENST00000575301.1_Missense_Mutation_p.N213H	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	213					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)				AGCCACGCTCAACTACCGTCT	0.622																																																0													105	91	95					17																	7317791		2203	4300	6503	SO:0001583	missense	57555			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.637A>C	chr17.hg19:g.7317791A>C	ENSP00000305288:p.Asn213His		Q9P2I1	Missense_Mutation	SNP	ENST00000302926.2	hg19	CCDS11103.1	.	.	.	.	.	.	.	.	.	.	A	17.81	3.481491	0.63849	.	.	ENSG00000169992	ENST00000302926	T	0.65178	-0.14	4.69	4.69	0.59074	Carboxylesterase, type B (1);	0.000000	0.85682	D	0.000000	D	0.83133	0.5188	H	0.94698	3.57	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	D	0.87417	0.2379	10	0.87932	D	0	.	12.1593	0.54096	1.0:0.0:0.0:0.0	.	213	Q8NFZ4	NLGN2_HUMAN	H	213	ENSP00000305288:N213H	ENSP00000305288:N213H	N	+	1	0	NLGN2	7258515	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.079000	0.94032	1.989000	0.58080	0.379000	0.24179	AAC		0.622	NLGN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226941.2	NM_020795		C	7317791	A	C	7317791	3	2	766	1	0	0	0	0	1	0	0	0	10464	130	5	5	647	5	NLGN2	17	7317791	Missense_Mutation	SNP	A	TCGA-MH-A854-01A-11D-A34Z-10		7317791	73877419	93	45277											
NEUROD2	4761	hgsc.bcm.edu	37	17	37762540	37762540	+	Missense_Mutation	SNP	C	C	A			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr17:37762540C>A	ENST00000302584.4	-	2	533	c.313G>T	c.(313-315)Ggg>Tgg	p.G105W		NM_006160.3	NP_006151.3	Q15784	NDF2_HUMAN	neuronal differentiation 2	105					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)			TTCTTGGGCCCGCGCTTCTTG	0.667																																																0													33	27	29					17																	37762540		2203	4300	6503	SO:0001583	missense	4761			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.313G>T	chr17.hg19:g.37762540C>A	ENSP00000306754:p.Gly105Trp		Q8TBI7|Q9UQC6	Missense_Mutation	SNP	ENST00000302584.4	hg19	CCDS11338.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.995471	0.74703	.	.	ENSG00000171532	ENST00000302584	D	0.97378	-4.36	5.25	5.25	0.73442	.	0.000000	0.85682	U	0.000000	D	0.98124	0.9381	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99331	1.0909	10	0.87932	D	0	-5.6865	17.6108	0.88053	0.0:1.0:0.0:0.0	.	105	Q15784	NDF2_HUMAN	W	105	ENSP00000306754:G105W	ENSP00000306754:G105W	G	-	1	0	NEUROD2	35016066	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.661000	0.83786	2.451000	0.82905	0.511000	0.50034	GGG		0.667	NEUROD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256931.2	NM_006160		A	37762540	C	A	37762540	3	1	766	1	0	0	0	0	1	0	0	0	10351	652	23	4	839	4	NEUROD2	17	37762540	Missense_Mutation	SNP	C	TCGA-MH-A854-01A-11D-A34Z-10	30444749	37762540	43432670	94	45278											
UBTF	7343	hgsc.bcm.edu	37	17	42288679	42288679	+	Silent	SNP	C	C	A			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr17:42288679C>A	ENST00000302904.4	-	11	1560	c.1068G>T	c.(1066-1068)gtG>gtT	p.V356V	UBTF_ENST00000526094.1_Silent_p.V319V|UBTF_ENST00000436088.1_Silent_p.V356V|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000533177.1_Silent_p.V319V|UBTF_ENST00000529383.1_Silent_p.V356V|UBTF_ENST00000343638.5_Silent_p.V319V|UBTF_ENST00000393606.3_Silent_p.V319V|UBTF_ENST00000527034.1_Silent_p.V319V			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	356					chromatin silencing at rDNA (GO:0000183)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|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)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GGAGCAGCTCCACCTCGTAAT	0.567																																																0													79	68	72					17																	42288679		2203	4300	6503	SO:0001819	synonymous_variant	7343			BC042297	CCDS11480.1, CCDS42346.1	17q21.31	2014-03-25			ENSG00000108312	ENSG00000108312			12511	protein-coding gene	gene with protein product		600673				9126496	Standard	NM_001076683		Approved	UBF, NOR-90, UBF1, UBF2	uc010czs.3	P17480	OTTHUMG00000167585	ENST00000302904.4:c.1068G>T	chr17.hg19:g.42288679C>A			A8K6R8	Silent	SNP	ENST00000302904.4	hg19	CCDS11480.1																																																																																				0.567	UBTF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395205.1	NM_014233		A	42288679	C	A	42288679	2	1	766	1	0	0	0	0	0	0	0	1	16914	581	21	4		4	UBTF	17	42288679	Silent	SNP	C	TCGA-MH-A854-01A-11D-A34Z-10	4526139	42288679	38906531	95	45279											
C17orf104	284071	hgsc.bcm.edu	37	17	42750780	42750780	+	Missense_Mutation	SNP	T	T	G			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr17:42750780T>G	ENST00000409122.2	+	7	2646	c.2504T>G	c.(2503-2505)cTt>cGt	p.L835R	RP11-1072C15.4_ENST00000591628.1_RNA	NM_001145080.2	NP_001138552.2	A2RUB1	CQ104_HUMAN	chromosome 17 open reading frame 104	835										autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						AGTTCTCTTCTTCATGCCAGT	0.388																																																0													226	189	201					17																	42750780		692	1591	2283	SO:0001583	missense	284071				CCDS45703.1, CCDS45703.2	17q21.31	2009-09-08			ENSG00000180336	ENSG00000180336			26670	protein-coding gene	gene with protein product							Standard	NM_001145080		Approved	FLJ35848	uc002iha.3	A2RUB1	OTTHUMG00000153039	ENST00000409122.2:c.2504T>G	chr17.hg19:g.42750780T>G	ENSP00000386452:p.Leu835Arg		B4DXJ2|B5MD93|B9EGQ6|C4AM97|Q4G0Y1|Q8IVZ7|Q8NA45	Missense_Mutation	SNP	ENST00000409122.2	hg19	CCDS45703.2	.	.	.	.	.	.	.	.	.	.	T	23.4	4.416623	0.83449	.	.	ENSG00000180336	ENST00000409122	T	0.39229	1.09	5.67	5.67	0.87782	.	.	.	.	.	T	0.51856	0.1699	L	0.38175	1.15	0.80722	D	1	D	0.54397	0.966	P	0.58970	0.849	T	0.54649	-0.8262	9	0.87932	D	0	-18.7971	15.9161	0.79521	0.0:0.0:0.0:1.0	.	835	A2RUB1	CQ104_HUMAN	R	835	ENSP00000386452:L835R	ENSP00000386452:L835R	L	+	2	0	C17orf104	40106306	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.948000	0.75965	2.171000	0.68590	0.528000	0.53228	CTT		0.388	C17orf104-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329171.2	NM_001145080		G	42750780	T	G	42750780	3	3	766	1	0	0	0	0	1	0	0	0	1853	1609	56	5	2530	5	C17orf104	17	42750780	Missense_Mutation	SNP	T	TCGA-MH-A854-01A-11D-A34Z-10	462101	42750780	38444430	96	45280											
MUC16	94025	hgsc.bcm.edu	37	19	9074934	9074934	+	Missense_Mutation	SNP	G	G	C			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr19:9074934G>C	ENST00000397910.4	-	3	12715	c.12512C>G	c.(12511-12513)cCt>cGt	p.P4171R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4173	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						AATATTGGAAGGCGAGGTTGT	0.512																																																0													157	145	149					19																	9074934		1973	4162	6135	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.12512C>G	chr19.hg19:g.9074934G>C	ENSP00000381008:p.Pro4171Arg		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	hg19	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	5.519	0.280650	0.10458	.	.	ENSG00000181143	ENST00000397910	T	0.25250	1.81	1.49	1.49	0.22878	.	.	.	.	.	T	0.30417	0.0764	L	0.43152	1.355	.	.	.	D	0.65815	0.995	P	0.55011	0.766	T	0.40683	-0.9550	8	0.87932	D	0	.	6.41	0.21686	0.0:0.0:1.0:0.0	.	4171	B5ME49	.	R	4171	ENSP00000381008:P4171R	ENSP00000381008:P4171R	P	-	2	0	MUC16	8935934	0.002000	0.14202	0.001000	0.08648	0.416000	0.31233	1.136000	0.31467	1.138000	0.42230	0.313000	0.20887	CCT		0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		C	9074934	G	C	9074934	3	2	766	1	0	0	0	0	1	0	0	0	9975	1000	35	4	31339	4	MUC16	19	9074934	Missense_Mutation	SNP	G	TCGA-MH-A854-01A-11D-A34Z-10		9074934	50054049	97	45281											
ANO8	57719	hgsc.bcm.edu	37	19	17438617	17438617	+	Silent	SNP	G	G	A			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr19:17438617G>A	ENST00000159087.4	-	14	2457	c.2299C>T	c.(2299-2301)Ctg>Ttg	p.L767L		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	767					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						AGCGCCGCCAGGGGGAAGGCG	0.652																																																0													112	102	105					19																	17438617		2203	4300	6503	SO:0001819	synonymous_variant	57719			AB046843	CCDS32949.1	19p13.12	2014-04-09	2008-08-28	2008-08-28		ENSG00000074855		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	29329	protein-coding gene	gene with protein product		610216	"KIAA1623", "transmembrane protein 16H"	KIAA1623, TMEM16H		10997877, 24692353	Standard	NM_020959		Approved		uc002ngf.2	Q9HCE9		ENST00000159087.4:c.2299C>T	chr19.hg19:g.17438617G>A			A6NIJ0	Silent	SNP	ENST00000159087.4	hg19	CCDS32949.1																																																																																				0.652	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462943.1	XM_050644		A	17438617	G	A	17438617	2	1	766	1	0	0	0	0	0	0	0	1	703	991	35	2		2	ANO8	19	17438617	Silent	SNP	G	TCGA-MH-A854-01A-11D-A34Z-10	8363683	17438617	41690366	98	45282											
HNRNPUL1	11100	hgsc.bcm.edu	37	19	41774184	41774184	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr19:41774184C>T	ENST00000392006.3	+	2	525	c.352C>T	c.(352-354)Caa>Taa	p.Q118*	HNRNPUL1_ENST00000352456.3_Nonsense_Mutation_p.Q18*|HNRNPUL1_ENST00000263367.3_Nonsense_Mutation_p.Q29*|HNRNPUL1_ENST00000594207.1_3'UTR|HNRNPUL1_ENST00000593587.1_Nonsense_Mutation_p.Q18*|HNRNPUL1_ENST00000602130.1_Nonsense_Mutation_p.Q118*|HNRNPUL1_ENST00000378215.4_Nonsense_Mutation_p.Q75*|HNRNPUL1_ENST00000595018.1_Nonsense_Mutation_p.Q18*	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	118					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						AGTCATCAAACAAGAAAACGA	0.443																																																0													127	99	108					19																	41774184		2203	4300	6503	SO:0001587	stop_gained	11100			AJ007509	CCDS12576.1, CCDS12577.1	19q13.2	2013-06-12		2008-04-18	ENSG00000105323	ENSG00000105323			17011	protein-coding gene	gene with protein product	"E1B 55kDa associated protein 5"	605800		HNRPUL1		9733834, 12489984	Standard	XM_005258459		Approved	E1B-AP5, E1BAP5, FLJ12944	uc002oqb.4	Q9BUJ2	OTTHUMG00000182740	ENST00000392006.3:c.352C>T	chr19.hg19:g.41774184C>T	ENSP00000375863:p.Gln118*		B3KMW7|O76022|Q6ZSZ0|Q7L8P4|Q8N6Z4|Q96G37|Q9HAL3|Q9UG75	Nonsense_Mutation	SNP	ENST00000392006.3	hg19	CCDS12576.1	.	.	.	.	.	.	.	.	.	.	C	37	6.423845	0.97555	.	.	ENSG00000105323	ENST00000352456;ENST00000392006;ENST00000378215;ENST00000263367	.	.	.	5.11	4.07	0.47477	.	0.259681	0.37437	N	0.002091	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-6.0125	11.2434	0.48982	0.1822:0.8178:0.0:0.0	.	.	.	.	X	18;118;75;29	.	ENSP00000263367:Q29X	Q	+	1	0	HNRNPUL1	46466024	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	2.263000	0.43293	1.524000	0.49035	0.655000	0.94253	CAA		0.443	HNRNPUL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463406.1	NM_144732, NM_007040		T	41774184	C	T	41774184	4	4	766	1	0	0	0	0	0	1	0	0	7276	479	17	2	358	2	HNRNPUL1	19	41774184	Nonsense_Mutation	SNP	C	TCGA-MH-A854-01A-11D-A34Z-10	24335567	41774184	17354799	99	45283											
FKRP	79147	hgsc.bcm.edu	37	19	47260096	47260096	+	Silent	SNP	C	C	T			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr19:47260096C>T	ENST00000318584.5	+	4	1686	c.1389C>T	c.(1387-1389)aaC>aaT	p.N463N	FKRP_ENST00000600646.1_Intron|FKRP_ENST00000391909.3_Silent_p.N463N	NM_001039885.2|NM_024301.4	NP_001034974.1|NP_077277.1	Q9H9S5	FKRP_HUMAN	fukutin related protein	463			N -> D (in MDDGB5). {ECO:0000269|PubMed:17336067}.		glycoprotein biosynthetic process (GO:0009101)|protein processing (GO:0016485)	dystrophin-associated glycoprotein complex (GO:0016010)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|rough endoplasmic reticulum (GO:0005791)|sarcolemma (GO:0042383)	transferase activity (GO:0016740)			NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)		AGGCGCCTAACAACTACCGCC	0.657																																																0													12	12	12					19																	47260096		2197	4282	6479	SO:0001819	synonymous_variant	79147			AJ314847	CCDS12691.1	19q13.32	2014-09-17			ENSG00000181027	ENSG00000181027			17997	protein-coding gene	gene with protein product		606596				11592034, 11741828	Standard	NM_024301		Approved	LGMD2I, MDC1C	uc002pfp.2	Q9H9S5		ENST00000318584.5:c.1389C>T	chr19.hg19:g.47260096C>T			A8K5G7	Silent	SNP	ENST00000318584.5	hg19	CCDS12691.1																																																																																				0.657	FKRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465473.1	NM_024301		T	47260096	C	T	47260096	2	4	766	1	0	0	0	0	0	0	0	1	5919	477	17	2		2	FKRP	19	47260096	Silent	SNP	C	TCGA-MH-A854-01A-11D-A34Z-10	5485912	47260096	11868887	100	45284											
DBP	1628	hgsc.bcm.edu	37	19	49136867	49136867	+	Missense_Mutation	SNP	A	A	G			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr19:49136867A>G	ENST00000222122.5	-	3	1039	c.596T>C	c.(595-597)gTg>gCg	p.V199A	DBP_ENST00000599385.1_5'UTR|DBP_ENST00000593500.1_5'UTR|DBP_ENST00000601104.1_Missense_Mutation_p.V199A	NM_001352.3	NP_001343.2	Q10586	DBP_HUMAN	D site of albumin promoter (albumin D-box) binding protein	199	Pro-rich (proline/acidic region (PAR)).				liver development (GO:0001889)|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)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)		CAACACCTCCACGGTGTCTGG	0.557																																																0													146	129	135					19																	49136867		2203	4300	6503	SO:0001583	missense	1628			U06936	CCDS12728.1	19q13.33	2013-09-20			ENSG00000105516	ENSG00000105516			2697	protein-coding gene	gene with protein product		124097				1535333, 7835883	Standard	XR_243907		Approved	DABP	uc002pjx.4	Q10586	OTTHUMG00000183319	ENST00000222122.5:c.596T>C	chr19.hg19:g.49136867A>G	ENSP00000222122:p.Val199Ala		A2I2P4	Missense_Mutation	SNP	ENST00000222122.5	hg19	CCDS12728.1	.	.	.	.	.	.	.	.	.	.	A	17.21	3.331769	0.60853	.	.	ENSG00000105516	ENST00000222122	.	.	.	5.11	5.11	0.69529	.	0.834711	0.10336	U	0.686922	T	0.49915	0.1585	L	0.49126	1.545	0.30737	N	0.746626	B	0.19935	0.04	B	0.19148	0.024	T	0.49908	-0.8889	9	0.41790	T	0.15	-24.4839	13.1676	0.59579	1.0:0.0:0.0:0.0	.	199	Q10586	DBP_HUMAN	A	199	.	ENSP00000222122:V199A	V	-	2	0	DBP	53828679	0.997000	0.39634	0.998000	0.56505	0.998000	0.95712	5.022000	0.64078	2.064000	0.61679	0.533000	0.62120	GTG		0.557	DBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466167.1	NM_001352		G	49136867	A	G	49136867	3	3	766	1	0	0	0	0	1	0	0	0	4258	159	6	3	389	3	DBP	19	49136867	Missense_Mutation	SNP	A	TCGA-MH-A854-01A-11D-A34Z-10	1876771	49136867	9992116	101	45285											
ZNF749	388567	hgsc.bcm.edu	37	19	57956719	57956719	+	Frame_Shift_Del	DEL	A	A	-			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr19:57956719delA	ENST00000334181.4	+	3	2453	c.2203delA	c.(2203-2205)aaafs	p.K735fs	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	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)			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)		AGACTTCAACAAATGTAATAC	0.393																																																0													106	109	108					19																	57956719		2203	4300	6503	SO:0001589	frameshift_variant	388567			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.2203delA	chr19.hg19:g.57956719delA	ENSP00000333980:p.Lys735fs			Frame_Shift_Del	DEL	ENST00000334181.4	hg19	CCDS33132.2																																																																																				0.393	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	NM_001023561		-	57956719	A	-	57956719	7	5	766	1	0	1	0	1	0	0	0	0	18136	131	5	0	2213	0	ZNF749	19	57956719	Frame_Shift_Del	DEL	A	TCGA-MH-A854-01A-11D-A34Z-10	8819852	57956719	1172264	102	45286											
FITM2	128486	hgsc.bcm.edu	37	20	42935653	42935653	+	Missense_Mutation	SNP	T	T	A			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr20:42935653T>A	ENST00000396825.3	-	2	421	c.401A>T	c.(400-402)cAc>cTc	p.H134L		NM_001080472.1	NP_001073941.1	Q8N6M3	FITM2_HUMAN	fat storage-inducing transmembrane protein 2	134					cellular triglyceride homeostasis (GO:0035356)|cytoskeleton organization (GO:0007010)|lipid particle organization (GO:0034389)|positive regulation of sequestering of triglyceride (GO:0010890)|regulation of cell morphogenesis (GO:0022604)|regulation of triglyceride biosynthetic process (GO:0010866)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|mitochondrion (GO:0005739)				endometrium(2)|lung(2)|skin(2)	6						CTTGCTCTGGTGTTCCTTTCT	0.567																																																0													119	87	98					20																	42935653		2203	4300	6503	SO:0001583	missense	128486			BC029662	CCDS33473.1	20q13.12	2009-04-29	2009-04-29	2009-04-29	ENSG00000197296	ENSG00000197296			16135	protein-coding gene	gene with protein product	"fat inducing transcript 2"	612029	"chromosome 20 open reading frame 142"	C20orf142		18160536	Standard	NM_001080472		Approved	dJ881L22.2, FIT2	uc002xlr.1	Q8N6M3	OTTHUMG00000032522	ENST00000396825.3:c.401A>T	chr20.hg19:g.42935653T>A	ENSP00000380037:p.His134Leu		A1L492|B9EGQ4|Q5TE59|Q9H3Y1	Missense_Mutation	SNP	ENST00000396825.3	hg19	CCDS33473.1	.	.	.	.	.	.	.	.	.	.	T	9.891	1.204219	0.22205	.	.	ENSG00000197296	ENST00000396825	.	.	.	5.84	-4.83	0.03161	.	0.696249	0.15653	N	0.251278	T	0.13884	0.0336	N	0.17082	0.46	0.09310	N	1	B	0.18013	0.025	B	0.18871	0.023	T	0.29305	-1.0016	9	0.11794	T	0.64	.	4.3673	0.11230	0.2017:0.0597:0.4168:0.3218	.	134	Q8N6M3	FITM2_HUMAN	L	134	.	ENSP00000380037:H134L	H	-	2	0	FITM2	42369067	0.000000	0.05858	0.002000	0.10522	0.762000	0.43233	-1.102000	0.03332	-0.380000	0.07894	0.533000	0.62120	CAC		0.567	FITM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079342.2	XM_371399		A	42935653	T	A	42935653	3	1	766	1	0	0	0	0	1	0	0	0	5901	1696	59	5	391	5	FITM2	20	42935653	Missense_Mutation	SNP	T	TCGA-MH-A854-01A-11D-A34Z-10		42935653	20089867	103	45287											
ARFGEF2	10564	hgsc.bcm.edu	37	20	47568002	47568002	+	Missense_Mutation	SNP	T	T	G			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr20:47568002T>G	ENST00000371917.4	+	4	419	c.419T>G	c.(418-420)aTt>aGt	p.I140S		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	140	DCB; DCB:DCB domain and DCB:HUS domain interaction.				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)			TTACAAATAATTAAGGTATGC	0.423																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)											0													90	93	92					20																	47568002		2203	4300	6503	SO:0001583	missense	10564			AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"A-kinase anchor proteins"	15853	protein-coding gene	gene with protein product	"Brefeldin A-inhibited guanine nucleotide-exchange protein 2"	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.419T>G	chr20.hg19:g.47568002T>G	ENSP00000360985:p.Ile140Ser		Q5TFT9|Q9NTS1	Missense_Mutation	SNP	ENST00000371917.4	hg19	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.289541	0.80914	.	.	ENSG00000124198	ENST00000538445;ENST00000371917	T	0.31247	1.5	6.05	4.95	0.65309	Armadillo-type fold (1);	0.071289	0.85682	D	0.000000	T	0.57858	0.2082	M	0.88906	2.99	0.80722	D	1	D	0.67145	0.996	D	0.63703	0.917	T	0.64296	-0.6441	10	0.56958	D	0.05	.	11.9957	0.53201	0.0:0.0671:0.0:0.9329	.	140	Q9Y6D5	BIG2_HUMAN	S	140	ENSP00000360985:I140S	ENSP00000360985:I140S	I	+	2	0	ARFGEF2	47001409	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.040000	0.89188	1.118000	0.41863	0.528000	0.53228	ATT		0.423	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		G	47568002	T	G	47568002	3	3	766	1	0	0	0	0	1	0	0	0	853	1493	52	5	433	5	ARFGEF2	20	47568002	Missense_Mutation	SNP	T	TCGA-MH-A854-01A-11D-A34Z-10	4632349	47568002	15457518	104	45288											
HSPA13	6782	hgsc.bcm.edu	37	21	15746414	15746414	+	Missense_Mutation	SNP	C	C	T			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr21:15746414C>T	ENST00000285667.3	-	5	1007	c.940G>A	c.(940-942)Gag>Aag	p.E314K	HSPA13_ENST00000544452.1_Missense_Mutation_p.E106K	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN	heat shock protein 70kDa family, member 13	314						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						TCCTGCTCCTCCACCGTTAGT	0.453																																																0													116	89	98					21																	15746414		2203	4300	6503	SO:0001583	missense	6782				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.940G>A	chr21.hg19:g.15746414C>T	ENSP00000285667:p.Glu314Lys		B2R616|Q8NE40	Missense_Mutation	SNP	ENST00000285667.3	hg19	CCDS13567.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.527733	0.27299	.	.	ENSG00000155304	ENST00000285667;ENST00000544452	T;T	0.00966	5.49;5.49	5.86	4.97	0.65823	.	0.638912	0.16716	N	0.202467	T	0.01320	0.0043	L	0.41415	1.275	0.09310	N	1	P	0.35226	0.491	B	0.34536	0.185	T	0.48854	-0.8998	10	0.87932	D	0	-14.9378	12.2841	0.54783	0.1155:0.7214:0.1631:0.0	.	314	P48723	HSP13_HUMAN	K	314;106	ENSP00000285667:E314K;ENSP00000441986:E106K	ENSP00000285667:E314K	E	-	1	0	HSPA13	14668285	1.000000	0.71417	0.890000	0.34922	0.117000	0.20001	2.613000	0.46351	1.598000	0.50083	0.650000	0.86243	GAG		0.453	HSPA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157815.1			T	15746414	C	T	15746414	3	4	766	1	0	0	0	0	1	0	0	0	7408	864	30	2	479	2	HSPA13	21	15746414	Missense_Mutation	SNP	C	TCGA-MH-A854-01A-11D-A34Z-10		15746414	32383481	105	45289											
CLIC6	54102	hgsc.bcm.edu	37	21	36080328	36080329	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	AG	AG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr21:36080328_36080329delAG	ENST00000360731.3	+	4	1625_1626	c.1625_1626delAG	c.(1624-1626)aagfs	p.K542fs	CLIC6_ENST00000349499.2_Frame_Shift_Del_p.K524fs			Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	542						chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						GATGTGAATAAGATCGAGGAGT	0.485																																																0																																										SO:0001589	frameshift_variant	54102			AF426169	CCDS13638.1	21q22.12	2012-09-26			ENSG00000159212	ENSG00000159212		"Ion channels / Chloride channels : Intracellular"	2065	protein-coding gene	gene with protein product		615321		CLIC1L		10830953	Standard	NM_053277		Approved	CLIC5	uc002yuf.1	Q96NY7	OTTHUMG00000086237	ENST00000360731.3:c.1625_1626delAG	chr21.hg19:g.36080328_36080329delAG	ENSP00000353959:p.Lys542fs		A8K0U8|Q8IX31	Frame_Shift_Del	DEL	ENST00000360731.3	hg19																																																																																					0.485	CLIC6-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000194156.1			-	36080329	AG	-	36080328	7	5	766	1	0	1	0	1	0	0	0	0	3532	72	3	0	1581	0	CLIC6	21	36080328	Frame_Shift_Del	DEL	AG	TCGA-MH-A854-01A-11D-A34Z-10	20333914	36080328	12049567	106	45290											
CABIN1	23523	hgsc.bcm.edu	37	22	24480737	24480737	+	Splice_Site	SNP	A	A	T			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr22:24480737A>T	ENST00000398319.2	+	21	3501	c.3116A>T	c.(3115-3117)gAg>gTg	p.E1039V	CABIN1_ENST00000405822.2_Splice_Site_p.E989V|CABIN1_ENST00000263119.5_Splice_Site_p.E1039V	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1039					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						ACTTCAACTGAGGTGGGCCCA	0.547																																																0													59	47	51					22																	24480737		2203	4300	6503	SO:0001630	splice_region_variant	23523			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.3117+1A>T	chr22.hg19:g.24480737A>T			G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	ENST00000398319.2	hg19	CCDS13823.1	.	.	.	.	.	.	.	.	.	.	A	16.41	3.115392	0.56505	.	.	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319	T;T;T	0.65364	0.06;-0.15;0.06	5.56	5.56	0.83823	.	0.051340	0.85682	D	0.000000	T	0.57301	0.2044	L	0.34521	1.04	0.80722	D	1	P;P	0.45827	0.867;0.791	P;B	0.44897	0.463;0.273	T	0.61987	-0.6949	10	0.59425	D	0.04	.	15.2547	0.73576	1.0:0.0:0.0:0.0	.	989;1039	G5E9F3;Q9Y6J0	.;CABIN_HUMAN	V	1039;989;1039	ENSP00000263119:E1039V;ENSP00000384694:E989V;ENSP00000381364:E1039V	ENSP00000263119:E1039V	E	+	2	0	CABIN1	22810737	1.000000	0.71417	0.993000	0.49108	0.260000	0.26232	8.121000	0.89582	2.259000	0.74868	0.529000	0.55759	GAG		0.547	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295	Missense_Mutation	T	24480737	A	T	24480737	5	4	766	1	0	0	0	0	0	0	1	0	2530	318	11	5	3194	5	CABIN1	22	24480737	Splice_Site	SNP	A	TCGA-MH-A854-01A-11D-A34Z-10		24480737	26823829	107	45291											
SMTN	6525	hgsc.bcm.edu	37	22	31487406	31487406	+	Missense_Mutation	SNP	A	A	C			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chr22:31487406A>C	ENST00000347557.2	+	10	1615	c.1397A>C	c.(1396-1398)aAg>aCg	p.K466T	SMTN_ENST00000358743.1_Missense_Mutation_p.K466T|SMTN_ENST00000333137.7_Missense_Mutation_p.K466T|SMTN_ENST00000404574.1_5'Flank	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin	466					muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						ATCGAGATCAAGGACGGCCGT	0.682																																																0													22	26	25					22																	31487406		2050	4150	6200	SO:0001583	missense	6525			AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963			11126	protein-coding gene	gene with protein product		602127				9244445, 8707825	Standard	NM_006932		Approved		uc011ale.2	P53814	OTTHUMG00000151203	ENST00000347557.2:c.1397A>C	chr22.hg19:g.31487406A>C	ENSP00000328635:p.Lys466Thr		O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	Missense_Mutation	SNP	ENST00000347557.2	hg19	CCDS13886.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.494882	0.85069	.	.	ENSG00000183963	ENST00000358743;ENST00000347557;ENST00000333137;ENST00000329852;ENST00000404496	T;T;T	0.76060	-0.55;-0.99;-0.99	5.07	5.07	0.68467	.	0.000000	0.36034	N	0.002826	D	0.84211	0.5422	M	0.65498	2.005	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;0.999;1.0	D;D;D;D;D;D	0.91635	0.997;0.996;0.991;0.997;0.991;0.999	D	0.86070	0.1537	10	0.87932	D	0	-35.7001	13.7041	0.62627	1.0:0.0:0.0:0.0	.	522;520;458;466;466;466	E7ETT8;B4E229;B5MC56;E7EWD0;P53814;P53814-5	.;.;.;.;SMTN_HUMAN;.	T	466;466;466;464;458	ENSP00000351593:K466T;ENSP00000328635:K466T;ENSP00000329532:K466T	ENSP00000329393:K464T	K	+	2	0	SMTN	29817406	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.535000	0.73838	2.049000	0.60858	0.402000	0.26972	AAG		0.682	SMTN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321766.1	NM_134270		C	31487406	A	C	31487406	3	2	766	1	0	0	0	0	1	0	0	0	14820	72	3	5	1431	5	SMTN	22	31487406	Missense_Mutation	SNP	A	TCGA-MH-A854-01A-11D-A34Z-10	7006669	31487406	19817160	108	45292											
MED12	9968	hgsc.bcm.edu	37	X	70355044	70355044	+	Missense_Mutation	SNP	T	T	G			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chrX:70355044T>G	ENST00000374080.3	+	36	4998	c.4966T>G	c.(4966-4968)Tcc>Gcc	p.S1656A	MED12_ENST00000333646.6_Missense_Mutation_p.S1656A|MED12_ENST00000374102.1_Missense_Mutation_p.S1656A			Q93074	MED12_HUMAN	mediator complex subunit 12	1656	Interaction with CTNNB1 and GLI3.				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)					GCCACAGGGCTCCCTTATCGA	0.557			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome																																Dom	yes		X	Xq13	9968	mediator complex subunit 12	Yes	M	0													84	80	81					X																	70355044		2105	4205	6310	SO:0001583	missense	9968			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.4966T>G	chrX.hg19:g.70355044T>G	ENSP00000363193:p.Ser1656Ala		O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	hg19	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	-	16.44	3.124037	0.56613	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072;ENST00000439750	T;T;T;T;T	0.58652	0.33;0.32;0.32;0.33;1.37	3.97	3.97	0.46021	.	0.000000	0.85682	D	0.000000	T	0.60560	0.2278	L	0.34521	1.04	0.58432	D	0.999999	B;B;D;B	0.60160	0.383;0.342;0.987;0.264	B;B;P;B	0.61003	0.155;0.092;0.882;0.168	T	0.59257	-0.7488	10	0.36615	T	0.2	-13.3161	12.5429	0.56182	0.0:0.0:0.0:1.0	.	1656;1503;1656;1656	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	A	1656;1656;1656;1656;1624;401	ENSP00000333125:S1656A;ENSP00000363215:S1656A;ENSP00000363193:S1656A;ENSP00000414203:S1624A;ENSP00000408388:S401A	ENSP00000333125:S1656A	S	+	1	0	MED12	70271769	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.864000	0.87037	1.595000	0.50050	0.430000	0.28490	TCC		0.557	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		G	70355044	T	G	70355044	3	3	766	1	0	0	0	0	1	0	0	0	9430	1551	54	5	5108	5	MED12	23	70355044	Missense_Mutation	SNP	T	TCGA-MH-A854-01A-11D-A34Z-10		70355044	84915516	109	45293											
WDR44	54521	hgsc.bcm.edu	37	X	117526785	117526785	+	Missense_Mutation	SNP	G	G	C			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chrX:117526785G>C	ENST00000254029.3	+	4	772	c.377G>C	c.(376-378)aGt>aCt	p.S126T	WDR44_ENST00000371825.3_Missense_Mutation_p.S126T|WDR44_ENST00000371822.5_Missense_Mutation_p.S101T|WDR44_ENST00000493448.1_3'UTR	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	126	Binding activity.					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						AAGGCAGAGAGTCAGAATACA	0.403																																																0													87	84	85					X																	117526785		2203	4300	6503	SO:0001583	missense	54521			AK001978	CCDS14572.1, CCDS55482.1, CCDS55483.1	Xq24	2013-01-09			ENSG00000131725	ENSG00000131725		"WD repeat domain containing"	30512	protein-coding gene	gene with protein product						12477932	Standard	NM_019045		Approved	DKFZp686L20145, RPH11, RAB11BP	uc004eqn.3	Q5JSH3	OTTHUMG00000022254	ENST00000254029.3:c.377G>C	chrX.hg19:g.117526785G>C	ENSP00000254029:p.Ser126Thr		B4DSE9|F8W913|Q0JS52|Q0JTF3|Q5JSH2|Q6ZSC1|Q7Z365|Q7Z3P6|Q8NAU8|Q8NHU5|Q9NUV4	Missense_Mutation	SNP	ENST00000254029.3	hg19	CCDS14572.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.225|7.225	0.598130|0.598130	0.13939|0.13939	.|.	.|.	ENSG00000131725|ENSG00000131725	ENST00000371848|ENST00000371822;ENST00000254029;ENST00000371825	T|T;T;T	0.64803|0.73258	-0.12|-0.73;-0.15;-0.02	5.58|5.58	4.53|4.53	0.55603|0.55603	.|.	.|0.401797	.|0.29924	.|N	.|0.010857	T|T	0.48169|0.48169	0.1485|0.1485	N|N	0.14661|0.14661	0.345|0.345	0.19775|0.19775	N|N	0.999955|0.999955	.|B;B;B	.|0.09022	.|0.002;0.001;0.002	.|B;B;B	.|0.11329	.|0.006;0.002;0.002	T|T	0.21793|0.21793	-1.0235|-1.0235	7|10	0.18710|0.12430	T|T	0.47|0.62	-15.6424|-15.6424	8.5425|8.5425	0.33402|0.33402	0.2406:0.0:0.7594:0.0|0.2406:0.0:0.7594:0.0	.|.	.|101;126;126	.|F8W913;Q5JSH3-2;Q5JSH3	.|.;.;WDR44_HUMAN	D|T	25|101;126;126	ENSP00000360914:E25D|ENSP00000360887:S101T;ENSP00000254029:S126T;ENSP00000360890:S126T	ENSP00000360914:E25D|ENSP00000254029:S126T	E|S	+|+	3|2	2|0	WDR44|WDR44	117410813|117410813	0.461000|0.461000	0.25783|0.25783	0.998000|0.998000	0.56505|0.56505	0.467000|0.467000	0.32768|0.32768	0.667000|0.667000	0.25112|0.25112	2.333000|2.333000	0.79357|0.79357	0.600000|0.600000	0.82982|0.82982	GAG|AGT		0.403	WDR44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058001.1	NM_019045		C	117526785	G	C	117526785	3	2	766	1	0	0	0	0	1	0	0	0	17301	1029	36	4	391	4	WDR44	23	117526785	Missense_Mutation	SNP	G	TCGA-MH-A854-01A-11D-A34Z-10	47171741	117526785	37743775	110	45294			1	125		2	2	25	N	G_A	8.527672e-05
WDR44	54521	hgsc.bcm.edu	37	X	117526809	117526809	+	Frame_Shift_Del	DEL	A	A	-			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chrX:117526809delA	ENST00000254029.3	+	4	796	c.401delA	c.(400-402)gaafs	p.E134fs	WDR44_ENST00000371825.3_Frame_Shift_Del_p.E134fs|WDR44_ENST00000371822.5_Frame_Shift_Del_p.E109fs|WDR44_ENST00000493448.1_3'UTR	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	134	Binding activity.					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						GAAGAGACTGAATTAGAATTA	0.383																																																0													85	83	84					X																	117526809		2203	4300	6503	SO:0001589	frameshift_variant	54521			AK001978	CCDS14572.1, CCDS55482.1, CCDS55483.1	Xq24	2013-01-09			ENSG00000131725	ENSG00000131725		"WD repeat domain containing"	30512	protein-coding gene	gene with protein product						12477932	Standard	NM_019045		Approved	DKFZp686L20145, RPH11, RAB11BP	uc004eqn.3	Q5JSH3	OTTHUMG00000022254	ENST00000254029.3:c.401delA	chrX.hg19:g.117526809delA	ENSP00000254029:p.Glu134fs		B4DSE9|F8W913|Q0JS52|Q0JTF3|Q5JSH2|Q6ZSC1|Q7Z365|Q7Z3P6|Q8NAU8|Q8NHU5|Q9NUV4	Frame_Shift_Del	DEL	ENST00000254029.3	hg19	CCDS14572.1																																																																																				0.383	WDR44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058001.1	NM_019045		-	117526809	A	-	117526809	7	5	766	1	0	1	0	1	0	0	0	0	17301	246	9	0	415	0	WDR44	23	117526809	Frame_Shift_Del	DEL	A	TCGA-MH-A854-01A-11D-A34Z-10	24	117526809	37743751	111	45295			1	125		2	2	25	N	G_A	8.527672e-05
IKBKG	2539	hgsc.bcm.edu	37	X	153770658	153770658	+	Intron	SNP	G	G	T			TCGA-MH-A854-01A-11D-A34Z-10	TCGA-MH-A854-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cfe2ae5e-1b05-49e9-896c-0dfe0c7bb0e0	c013eb32-4377-46f2-8ed8-eb0f3d494642	g.chrX:153770658G>T	ENST00000393564.2	-	2	233				IKBKG_ENST00000369607.1_Intron|IKBKG_ENST00000369609.5_Missense_Mutation_p.W60C|G6PD_ENST00000369620.2_Intron|G6PD_ENST00000497281.1_Intron|G6PD_ENST00000393562.2_Intron	NM_001042351.1	NP_001035810.1	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase						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)					GAGCTTTCTGGAAGGGGGCAG	0.582																																																0													56	48	50					X																	153770658		1568	3582	5150	SO:0001627	intron_variant	8517			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.120+3592C>A	chrX.hg19:g.153770658G>T			D3DWX9|Q16000|Q16765|Q8IU70|Q8IU88|Q8IUA6|Q96PQ2	Missense_Mutation	SNP	ENST00000393564.2	hg19	CCDS44023.1	.	.	.	.	.	.	.	.	.	.	G	11.29	1.593948	0.28445	.	.	ENSG00000073009	ENST00000369609	D	0.91843	-2.92	2.6	1.67	0.24075	.	.	.	.	.	D	0.87414	0.6171	.	.	.	0.09310	N	0.999993	P	0.44006	0.824	B	0.40285	0.325	T	0.79147	-0.1923	8	0.87932	D	0	.	5.8132	0.18477	0.0:0.0:0.6857:0.3143	.	60	Q9Y6K9-2	.	C	60	ENSP00000358622:W60C	ENSP00000358622:W60C	W	+	3	0	IKBKG	153423852	0.002000	0.14202	0.002000	0.10522	0.556000	0.35491	0.859000	0.27858	0.481000	0.27557	0.483000	0.47432	TGG		0.582	G6PD-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061170.3	NM_000402		T	153770658	G	T	153770658	1	4	766	0	1	0	0	0	0	0	0	0	7615	1183	41	4		4	IKBKG	23	153770658	Intron	SNP	G	TCGA-MH-A854-01A-11D-A34Z-10	36243849	153770658	1499902	112	45296											
CDK11B	984	hgsc.bcm.edu	37	1	1577073	1577078	+	In_Frame_Del	DEL	TCCTCT	TCCTCT	-			TCGA-MH-A855-01A-11D-A34Z-10	TCGA-MH-A855-10A-01D-A34Z-10	TCCTCT	TCCTCT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45f692dd-7c11-4489-9e41-a3288880bb92	d3dee4f3-5666-47be-8e2e-f75389de1c43	g.chr1:1577073_1577078delTCCTCT	ENST00000407249.3	-	10	962_967	c.963_968delAGAGGA	c.(961-969)gaagaggag>gag	p.321_323EEE>E	CDK11B_ENST00000341832.6_In_Frame_Del_p.274_276EEE>E|CDK11B_ENST00000340677.5_In_Frame_Del_p.308_310EEE>E|CDK11B_ENST00000317673.7_In_Frame_Del_p.319_321EEE>E			P21127	CD11B_HUMAN	cyclin-dependent kinase 11B	331	Glu-rich.				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						ctcctcctcctcctcttcctcttcct	0.563																																																0																																										SO:0001651	inframe_deletion	984			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.963_968delAGAGGA	chr1.hg19:g.1577079_1577084delTCCTCT	ENSP00000464036:p.Glu325_Glu326del		O95265|Q12817|Q12818|Q12819|Q12820|Q12822|Q8N530|Q9NZS5|Q9UBJ0|Q9UBQ1|Q9UBR0|Q9UNY2|Q9UP57|Q9UP58|Q9UP59	In_Frame_Del	DEL	ENST00000407249.3	hg19																																																																																					0.563	CDK11B-204	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001787		-	1577078	TCCTCT	-	1577073	7	5	767	1	0	1	0	1	0	0	0	0	3129	1551	54	0	1437	0	CDK11B	1	1577073	In_Frame_Del	DEL	TCCTCT	TCGA-MH-A855-01A-11D-A34Z-10		1577073	247673548	1	45297											
CDK11A	728642	hgsc.bcm.edu	37	1	1640283	1640288	+	In_Frame_Del	DEL	TCCTCT	TCCTCT	-			TCGA-MH-A855-01A-11D-A34Z-10	TCGA-MH-A855-10A-01D-A34Z-10	TCCTCT	TCCTCT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45f692dd-7c11-4489-9e41-a3288880bb92	d3dee4f3-5666-47be-8e2e-f75389de1c43	g.chr1:1640283_1640288delTCCTCT	ENST00000378633.1	-	9	1036_1041	c.957_962delAGAGGA	c.(955-963)gaagaggag>gag	p.319_321EEE>E	CDK11A_ENST00000356200.3_In_Frame_Del_p.282_284EEE>E|CDK11A_ENST00000358779.5_In_Frame_Del_p.306_308EEE>E|CDK11A_ENST00000378638.2_In_Frame_Del_p.282_284EEE>E|CDK11A_ENST00000404249.3_In_Frame_Del_p.316_318EEE>E|CDK11A_ENST00000378635.3_3'UTR|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000357760.2_In_Frame_Del_p.315_317EEE>E			Q9UQ88	CD11A_HUMAN	cyclin-dependent kinase 11A	319	Glu-rich.				apoptotic process (GO:0006915)|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)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						ctcctcctcctcctcttcctcttcct	0.563																																					Pancreas(186;965 2119 30274 40311 50569)											0																																										SO:0001651	inframe_deletion	728642			AF067522	CCDS44042.1, CCDS44043.1	1p36.33	2011-11-08	2009-12-16	2009-12-16	ENSG00000008128	ENSG00000008128		"Cyclin-dependent kinases"	1730	protein-coding gene	gene with protein product		116951	"cell division cycle 2-like 2", "cell division cycle 2-like 2 (PITSLRE proteins)"	CDC2L3, CDC2L2		7920654, 9750192, 19884882	Standard	NM_033529		Approved	PITSLRE, CDK11-p110, CDK11-p58, CDK11-p46, p58GTA		Q9UQ88	OTTHUMG00000000703	ENST00000378633.1:c.957_962delAGAGGA	chr1.hg19:g.1640289_1640294delTCCTCT	ENSP00000367900:p.Glu323_Glu324del		O95227|O95228|O96012|Q12821|Q12853|Q12854|Q2TAJ0|Q5QPR0|Q5QPR1|Q5QPR2|Q9UBC4|Q9UBI3|Q9UEI1|Q9UEI2|Q9UP53|Q9UP54|Q9UP55|Q9UP56|Q9UQ86|Q9UQ87|Q9UQ89	In_Frame_Del	DEL	ENST00000378633.1	hg19																																																																																					0.563	CDK11A-005	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000001735.1	NM_024011		-	1640288	TCCTCT	-	1640283	7	5	767	1	0	1	0	1	0	0	0	0	3128	1551	54	0	1437	0	CDK11A	1	1640283	In_Frame_Del	DEL	TCCTCT	TCGA-MH-A855-01A-11D-A34Z-10	63210	1640283	247610338	2	45298											
KIF1B	23095	hgsc.bcm.edu	37	1	10435400	10435400	+	Missense_Mutation	SNP	G	G	C			TCGA-MH-A855-01A-11D-A34Z-10	TCGA-MH-A855-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45f692dd-7c11-4489-9e41-a3288880bb92	d3dee4f3-5666-47be-8e2e-f75389de1c43	g.chr1:10435400G>C	ENST00000377086.1	+	48	5579	c.5377G>C	c.(5377-5379)Gcc>Ccc	p.A1793P	KIF1B_ENST00000263934.6_Missense_Mutation_p.A1747P|KIF1B_ENST00000377081.1_Missense_Mutation_p.A1793P			O60333	KIF1B_HUMAN	kinesin family member 1B	1793	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)		CTGGTTGTATGCCTTCAACCC	0.448																																																0													120	110	113					1																	10435400		2203	4300	6503	SO:0001583	missense	23095			AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"Kinesins", "Pleckstrin homology (PH) domain containing"	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.5377G>C	chr1.hg19:g.10435400G>C	ENSP00000366290:p.Ala1793Pro		A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	hg19		.	.	.	.	.	.	.	.	.	.	G	35	5.472787	0.96274	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.79845	-1.31;-1.31;-1.31	5.38	5.38	0.77491	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.91925	0.7443	M	0.89534	3.04	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	0.97110	1.0;0.999;1.0;1.0;0.999;0.991	D	0.93192	0.6584	10	0.72032	D	0.01	.	19.1601	0.93527	0.0:0.0:1.0:0.0	.	1779;1753;1793;1767;1793;1747	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	P	1793;1747;1793;1793	ENSP00000263934:A1747P;ENSP00000366290:A1793P;ENSP00000366284:A1793P	ENSP00000263934:A1747P	A	+	1	0	KIF1B	10357987	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	9.864000	0.99589	2.520000	0.84964	0.585000	0.79938	GCC		0.448	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			C	10435400	G	C	10435400	3	2	767	1	0	0	0	0	1	0	0	0	8286	1319	46	4	6906	4	KIF1B	1	10435400	Missense_Mutation	SNP	G	TCGA-MH-A855-01A-11D-A34Z-10	8795117	10435400	238815221	3	45299											
DHDDS	79947	hgsc.bcm.edu	37	1	26759444	26759444	+	Missense_Mutation	SNP	G	G	T			TCGA-MH-A855-01A-11D-A34Z-10	TCGA-MH-A855-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45f692dd-7c11-4489-9e41-a3288880bb92	d3dee4f3-5666-47be-8e2e-f75389de1c43	g.chr1:26759444G>T	ENST00000236342.7	+	2	101	c.8G>T	c.(7-9)tGg>tTg	p.W3L	DHDDS_ENST00000427245.2_Missense_Mutation_p.W3L|DHDDS_ENST00000374185.3_Missense_Mutation_p.W3L|DHDDS_ENST00000525682.2_Missense_Mutation_p.W3L|DHDDS_ENST00000531955.1_3'UTR|DHDDS_ENST00000526219.1_Missense_Mutation_p.W3L|DHDDS_ENST00000360009.2_Missense_Mutation_p.W3L			Q86SQ9	DHDDS_HUMAN	dehydrodolichyl diphosphate synthase	3					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	transferase activity, transferring alkyl or aryl (other than methyl) groups (GO:0016765)			breast(5)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	15		all_cancers(24;2.04e-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;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239)		ACTATGTCATGGATCAAGGAA	0.468																																																0													148	137	141					1																	26759444		2203	4300	6503	SO:0001583	missense	79947			AK023164	CCDS281.1, CCDS282.1, CCDS57984.1, CCDS57983.1	1p35.3	2014-01-28			ENSG00000117682	ENSG00000117682			20603	protein-coding gene	gene with protein product		608172				12591616	Standard	NM_024887		Approved	HDS, FLJ13102, DS, RP59	uc001bmk.3	Q86SQ9	OTTHUMG00000003554	ENST00000236342.7:c.8G>T	chr1.hg19:g.26759444G>T	ENSP00000236342:p.Trp3Leu		B7Z4B9|B7ZB20|D3DPK7|D3DPK8|D3DPK9|E9KL43|Q5T0A4|Q8NE90|Q9BTG5|Q9BTK3|Q9H905	Missense_Mutation	SNP	ENST00000236342.7	hg19	CCDS282.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.435781	0.83885	.	.	ENSG00000117682	ENST00000427245;ENST00000525682;ENST00000236342;ENST00000526219;ENST00000374185;ENST00000360009;ENST00000533087;ENST00000531312;ENST00000525165;ENST00000525326;ENST00000525546;ENST00000436153;ENST00000530781;ENST00000430232	T;T;T;T;T	0.56103	0.55;0.5;0.55;0.48;0.71	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.73345	0.3575	M	0.87900	2.915	0.80722	D	1	D;P;P;D	0.59357	0.985;0.944;0.928;0.957	P;P;P;P	0.55667	0.728;0.448;0.609;0.781	T	0.77800	-0.2452	10	0.87932	D	0	-13.9392	19.2865	0.94077	0.0:0.0:1.0:0.0	.	3;3;3;3	B7Z4B9;Q86SQ9-3;Q86SQ9;Q86SQ9-2	.;.;DHDDS_HUMAN;.	L	3	ENSP00000434984:W3L;ENSP00000236342:W3L;ENSP00000434219:W3L;ENSP00000353104:W3L;ENSP00000397584:W3L	ENSP00000236342:W3L	W	+	2	0	DHDDS	26632031	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.358000	0.90090	2.802000	0.96397	0.655000	0.94253	TGG		0.468	DHDDS-011	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392504.1	NM_024887		T	26759444	G	T	26759444	3	4	767	1	0	0	0	0	1	0	0	0	4480	1357	47	4	10	4	DHDDS	1	26759444	Missense_Mutation	SNP	G	TCGA-MH-A855-01A-11D-A34Z-10	16324044	26759444	222491177	4	45300											
GON4L	54856	hgsc.bcm.edu	37	1	155785662	155785662	+	Missense_Mutation	SNP	T	T	A			TCGA-MH-A855-01A-11D-A34Z-10	TCGA-MH-A855-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45f692dd-7c11-4489-9e41-a3288880bb92	d3dee4f3-5666-47be-8e2e-f75389de1c43	g.chr1:155785662T>A	ENST00000368331.1	-	8	1143	c.1095A>T	c.(1093-1095)gaA>gaT	p.E365D	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000271883.5_Missense_Mutation_p.E365D|GON4L_ENST00000361040.5_Missense_Mutation_p.E365D|GON4L_ENST00000437809.1_Missense_Mutation_p.E365D	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	365					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					AATCATCTTCTTCAAGGTGGA	0.368																																																0													92	84	87					1																	155785662		2203	4300	6503	SO:0001583	missense	54856			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"gon-4 homolog (C.elegans)"	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.1095A>T	chr1.hg19:g.155785662T>A	ENSP00000357315:p.Glu365Asp		B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	ENST00000368331.1	hg19		.	.	.	.	.	.	.	.	.	.	T	19.44	3.828178	0.71143	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000539959;ENST00000361040	T;T;T;T	0.12774	2.87;2.85;2.87;2.65	5.28	2.78	0.32641	.	0.131508	0.51477	D	0.000095	T	0.11707	0.0285	L	0.49350	1.555	0.32400	N	0.552129	D;D;D;D;D	0.71674	0.986;0.998;0.998;0.997;0.998	P;D;D;D;D	0.77557	0.84;0.99;0.941;0.978;0.99	T	0.06250	-1.0837	10	0.28530	T	0.3	.	3.7085	0.08410	0.0:0.2293:0.1888:0.5819	.	59;365;365;365;365	Q9H5U2;A4PB68;Q3T8J9-2;Q3T8J9;Q3T8J9-3	.;.;.;GON4L_HUMAN;.	D	365	ENSP00000396117:E365D;ENSP00000357315:E365D;ENSP00000271883:E365D;ENSP00000354322:E365D	ENSP00000271883:E365D	E	-	3	2	GON4L	154052286	0.972000	0.33761	1.000000	0.80357	0.998000	0.95712	0.009000	0.13219	0.938000	0.37419	0.533000	0.62120	GAA		0.368	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		A	155785662	T	A	155785662	3	1	767	1	0	0	0	0	1	0	0	0	6574	1606	56	5	5844	5	GON4L	1	155785662	Missense_Mutation	SNP	T	TCGA-MH-A855-01A-11D-A34Z-10	129026218	155785662	93464959	5	45301											
KDM3A	55818	hgsc.bcm.edu	37	2	86693629	86693629	+	Missense_Mutation	SNP	A	A	G			TCGA-MH-A855-01A-11D-A34Z-10	TCGA-MH-A855-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45f692dd-7c11-4489-9e41-a3288880bb92	d3dee4f3-5666-47be-8e2e-f75389de1c43	g.chr2:86693629A>G	ENST00000409556.1	+	11	1507	c.1142A>G	c.(1141-1143)aAa>aGa	p.K381R	KDM3A_ENST00000312912.5_Missense_Mutation_p.K381R|KDM3A_ENST00000409064.1_Missense_Mutation_p.K381R|KDM3A_ENST00000542128.1_Missense_Mutation_p.K329R			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	381					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						GGAGACTTGAAAATTCTGACT	0.448																																					NSCLC(96;1150 1523 6936 46253 49736)											0													116	118	117					2																	86693629		2203	4300	6503	SO:0001583	missense	55818			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.1142A>G	chr2.hg19:g.86693629A>G	ENSP00000386660:p.Lys381Arg		D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Missense_Mutation	SNP	ENST00000409556.1	hg19	CCDS1990.1	.	.	.	.	.	.	.	.	.	.	A	14.91	2.675086	0.47781	.	.	ENSG00000115548	ENST00000409556;ENST00000540058;ENST00000312912;ENST00000409064;ENST00000542128	T;T;T;T	0.59502	0.26;0.26;0.26;0.26	5.71	4.54	0.55810	.	0.336240	0.28914	N	0.013724	T	0.38558	0.1045	N	0.14661	0.345	0.24510	N	0.994213	B;B	0.28933	0.228;0.146	B;B	0.25140	0.058;0.038	T	0.26155	-1.0111	10	0.44086	T	0.13	.	10.9773	0.47473	0.8434:0.1566:0.0:0.0	.	329;381	F5H070;Q9Y4C1	.;KDM3A_HUMAN	R	381;381;381;381;329	ENSP00000386660:K381R;ENSP00000323659:K381R;ENSP00000386516:K381R;ENSP00000438324:K329R	ENSP00000323659:K381R	K	+	2	0	KDM3A	86547140	0.046000	0.20272	0.980000	0.43619	0.993000	0.82548	2.137000	0.42130	0.963000	0.38082	0.533000	0.62120	AAA		0.448	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252522.2	NM_018433		G	86693629	A	G	86693629	3	3	767	1	0	0	0	0	1	0	0	0	8128	14	1	3	1176	3	KDM3A	2	86693629	Missense_Mutation	SNP	A	TCGA-MH-A855-01A-11D-A34Z-10		86693629	156505744	6	45302											
ADAM23	8745	hgsc.bcm.edu	37	2	207457453	207457453	+	Missense_Mutation	SNP	G	G	C			TCGA-MH-A855-01A-11D-A34Z-10	TCGA-MH-A855-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45f692dd-7c11-4489-9e41-a3288880bb92	d3dee4f3-5666-47be-8e2e-f75389de1c43	g.chr2:207457453G>C	ENST00000264377.3	+	22	2399	c.2071G>C	c.(2071-2073)Gac>Cac	p.D691H	ADAM23_ENST00000374415.3_Missense_Mutation_p.D691H|ADAM23_ENST00000374416.1_Missense_Mutation_p.D691H	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	691					cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		CCGGGTGATTGACTGCAGGTA	0.353																																					Melanoma(194;1127 2130 19620 24042 27855)											0													117	102	107					2																	207457453		2203	4300	6503	SO:0001583	missense	8745			AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"ADAM metallopeptidase domain containing"	202	protein-coding gene	gene with protein product		603710	"a disintegrin and metalloproteinase domain 23"			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.2071G>C	chr2.hg19:g.207457453G>C	ENSP00000264377:p.Asp691His		A2RU59	Missense_Mutation	SNP	ENST00000264377.3	hg19	CCDS2369.1	.	.	.	.	.	.	.	.	.	.	G	14.26	2.482645	0.44147	.	.	ENSG00000114948	ENST00000264377;ENST00000374416;ENST00000431817;ENST00000374415	T;T;T	0.21932	1.98;1.98;1.98	5.52	5.52	0.82312	ADAM, cysteine-rich (2);	0.000000	0.64402	D	0.000006	T	0.24275	0.0588	L	0.46157	1.445	0.80722	D	1	P	0.48016	0.904	P	0.44673	0.457	T	0.00742	-1.1585	10	0.48119	T	0.1	.	13.7002	0.62604	0.0741:0.0:0.9259:0.0	.	691	O75077	ADA23_HUMAN	H	691;691;585;691	ENSP00000264377:D691H;ENSP00000363537:D691H;ENSP00000363536:D691H	ENSP00000264377:D691H	D	+	1	0	ADAM23	207165698	1.000000	0.71417	1.000000	0.80357	0.174000	0.22865	5.445000	0.66594	2.593000	0.87608	0.591000	0.81541	GAC		0.353	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256431.2	NM_003812		C	207457453	G	C	207457453	3	2	767	1	0	0	0	0	1	0	0	0	245	1290	45	4	2157	4	ADAM23	2	207457453	Missense_Mutation	SNP	G	TCGA-MH-A855-01A-11D-A34Z-10	120763824	207457453	35741920	7	45303											
ZPLD1	131368	hgsc.bcm.edu	37	3	102171980	102171980	+	Silent	SNP	G	G	A			TCGA-MH-A855-01A-11D-A34Z-10	TCGA-MH-A855-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45f692dd-7c11-4489-9e41-a3288880bb92	d3dee4f3-5666-47be-8e2e-f75389de1c43	g.chr3:102171980G>A	ENST00000491959.1	+	10	1206	c.324G>A	c.(322-324)ctG>ctA	p.L108L	ZPLD1_ENST00000466937.1_Silent_p.L108L|ZPLD1_ENST00000306176.1_Silent_p.L124L			Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	108	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						GAAACAACCTGGTGGTAAGAT	0.433																																																0													63	55	58					3																	102171980		2203	4300	6503	SO:0001819	synonymous_variant	131368			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.324G>A	chr3.hg19:g.102171980G>A			Q49AS1|Q8WU36	Silent	SNP	ENST00000491959.1	hg19																																																																																					0.433	ZPLD1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353984.1	NM_175056		A	102171980	G	A	102171980	2	1	767	1	0	0	0	0	0	0	0	1	18226	1335	47	2		2	ZPLD1	3	102171980	Silent	SNP	G	TCGA-MH-A855-01A-11D-A34Z-10		102171980	95850450	8	45304											
TNFSF10	8743	hgsc.bcm.edu	37	3	172232753	172232753	+	Silent	SNP	A	A	G			TCGA-MH-A855-01A-11D-A34Z-10	TCGA-MH-A855-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45f692dd-7c11-4489-9e41-a3288880bb92	d3dee4f3-5666-47be-8e2e-f75389de1c43	g.chr3:172232753A>G	ENST00000241261.2	-	2	290	c.168T>C	c.(166-168)tgT>tgC	p.C56C	TNFSF10_ENST00000420541.2_Silent_p.C56C	NM_003810.3	NP_003801.1	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily, member 10	56					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|male gonad development (GO:0008584)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to insulin (GO:0032868)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|receptor binding (GO:0005102)			breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CTTTTAAGAAACAAGCAATGC	0.408																																																0													143	140	141					3																	172232753		2203	4300	6503	SO:0001819	synonymous_variant	8743			U37518	CCDS3219.1, CCDS54680.1	3q26	2006-09-20			ENSG00000121858	ENSG00000121858		"Tumor necrosis factor (ligand) superfamily", "CD molecules"	11925	protein-coding gene	gene with protein product		603598				8777713, 8663110	Standard	NM_003810		Approved	TRAIL, Apo-2L, TL2, CD253	uc003fid.3	P50591	OTTHUMG00000156917	ENST00000241261.2:c.168T>C	chr3.hg19:g.172232753A>G			A1Y9B3	Silent	SNP	ENST00000241261.2	hg19	CCDS3219.1																																																																																				0.408	TNFSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346601.1			G	172232753	A	G	172232753	2	3	767	1	0	0	0	0	0	0	0	1	16306	41	2	3		3	TNFSF10	3	172232753	Silent	SNP	A	TCGA-MH-A855-01A-11D-A34Z-10	70060773	172232753	25789677	9	45305											
CCDC39	339829	hgsc.bcm.edu	37	3	180379790	180379790	+	Silent	SNP	A	A	G			TCGA-MH-A855-01A-11D-A34Z-10	TCGA-MH-A855-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45f692dd-7c11-4489-9e41-a3288880bb92	d3dee4f3-5666-47be-8e2e-f75389de1c43	g.chr3:180379790A>G	ENST00000442201.2	-	3	335	c.216T>C	c.(214-216)ctT>ctC	p.L72L	CCDC39_ENST00000273654.4_Silent_p.L156L	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	72					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)			TTGCTTTGCAAAGAGACTACA	0.323																																																0													56	45	49					3																	180379790		1776	4011	5787	SO:0001819	synonymous_variant	339829			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.216T>C	chr3.hg19:g.180379790A>G			B4E2H1	Silent	SNP	ENST00000442201.2	hg19	CCDS46964.1																																																																																				0.323	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028		G	180379790	A	G	180379790	2	3	767	1	0	0	0	0	0	0	0	1	2813	1	1	3		3	CCDC39	3	180379790	Silent	SNP	A	TCGA-MH-A855-01A-11D-A34Z-10	8147037	180379790	17642640	10	45306											
CHRD	8646	hgsc.bcm.edu	37	3	184099117	184099117	+	Missense_Mutation	SNP	A	A	G			TCGA-MH-A855-01A-11D-A34Z-10	TCGA-MH-A855-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45f692dd-7c11-4489-9e41-a3288880bb92	d3dee4f3-5666-47be-8e2e-f75389de1c43	g.chr3:184099117A>G	ENST00000204604.1	+	3	593	c.347A>G	c.(346-348)cAg>cGg	p.Q116R	CHRD_ENST00000545352.1_5'Flank|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000482805.1_3'UTR|CHRD_ENST00000348986.3_Missense_Mutation_p.Q116R|CHRD_ENST00000450923.1_Missense_Mutation_p.Q116R	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	116	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.			RQLP -> QVAA (in Ref. 4; AAC69835). {ECO:0000305}.	BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CAGCCGCGCCAGCTGCCGGGA	0.692																																																0													8	11	10					3																	184099117		2170	4243	6413	SO:0001583	missense	8646			AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.347A>G	chr3.hg19:g.184099117A>G	ENSP00000204604:p.Gln116Arg		O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Missense_Mutation	SNP	ENST00000204604.1	hg19	CCDS3266.1	.	.	.	.	.	.	.	.	.	.	A	17.95	3.514869	0.64634	.	.	ENSG00000090539	ENST00000204604;ENST00000450923;ENST00000348986	T;T;T	0.72282	-0.64;-0.64;-0.64	5.18	3.94	0.45596	von Willebrand factor, type C (3);	0.069374	0.64402	D	0.000016	T	0.37865	0.1019	N	0.02368	-0.58	0.80722	D	1	B;B	0.33318	0.101;0.408	B;B	0.31495	0.102;0.131	T	0.34925	-0.9809	10	0.11485	T	0.65	-21.1397	7.5131	0.27585	0.6909:0.0:0.0:0.3091	.	116;116	E7ESX1;Q9H2X0	.;CHRD_HUMAN	R	116	ENSP00000204604:Q116R;ENSP00000408972:Q116R;ENSP00000334036:Q116R	ENSP00000204604:Q116R	Q	+	2	0	CHRD	185581811	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	3.705000	0.54823	1.954000	0.56735	0.459000	0.35465	CAG		0.692	CHRD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280432.1	NM_003741		G	184099117	A	G	184099117	3	3	767	1	0	0	0	0	1	0	0	0	3374	188	7	3	357	3	CHRD	3	184099117	Missense_Mutation	SNP	A	TCGA-MH-A855-01A-11D-A34Z-10	3719327	184099117	13923313	11	45307											
ZNF721	170960	hgsc.bcm.edu	37	4	436272	436272	+	Missense_Mutation	SNP	T	T	A			TCGA-MH-A855-01A-11D-A34Z-10	TCGA-MH-A855-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45f692dd-7c11-4489-9e41-a3288880bb92	d3dee4f3-5666-47be-8e2e-f75389de1c43	g.chr4:436272T>A	ENST00000338977.5	-	2	1996	c.1948A>T	c.(1948-1950)Att>Ttt	p.I650F	ZNF721_ENST00000511833.2_Missense_Mutation_p.I662F|ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA			Q8TF20	ZN721_HUMAN	zinc finger protein 721	650					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						CCAGTAAGAATTTTCGTGTGT	0.408																																																0													151	158	156					4																	436272		2008	4191	6199	SO:0001583	missense	170960			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.1948A>T	chr4.hg19:g.436272T>A	ENSP00000340524:p.Ile650Phe		Q69YG7	Silent	SNP	ENST00000338977.5	hg19		.	.	.	.	.	.	.	.	.	.	T	15.96	2.987248	0.53934	.	.	ENSG00000182903	ENST00000338977;ENST00000511833	T;T	0.17370	2.28;2.28	1.02	1.02	0.19986	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22126	0.0533	M	0.75085	2.285	0.24841	N	0.992466	D;D;D	0.54601	0.967;0.967;0.96	P;P;B	0.45577	0.486;0.486;0.354	T	0.14448	-1.0472	9	0.66056	D	0.02	.	6.213	0.20640	0.0:0.0:0.0:1.0	.	650;662;662	Q8TF20;D9N162;Q8TF20-2	ZN721_HUMAN;.;.	F	650;662	ENSP00000340524:I650F;ENSP00000428878:I662F	ENSP00000340524:I650F	I	-	1	0	ZNF721	426272	0.100000	0.21855	0.009000	0.14445	0.110000	0.19582	1.945000	0.40273	0.733000	0.32492	0.155000	0.16302	ATT		0.408	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1	NM_133474		A	436272	T	A	436272	3	1	767	1	0	0	0	0	1	0	0	0	18127	1493	52	5	791	5	ZNF721	4	436272	Missense_Mutation	SNP	T	TCGA-MH-A855-01A-11D-A34Z-10		436272	190718004	12	45308											
TRIP13	9319	hgsc.bcm.edu	37	5	914652	914652	+	Missense_Mutation	SNP	A	A	T			TCGA-MH-A855-01A-11D-A34Z-10	TCGA-MH-A855-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45f692dd-7c11-4489-9e41-a3288880bb92	d3dee4f3-5666-47be-8e2e-f75389de1c43	g.chr5:914652A>T	ENST00000166345.3	+	11	1449	c.1093A>T	c.(1093-1095)Aac>Tac	p.N365Y		NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	thyroid hormone receptor interactor 13	365					double-strand break repair (GO:0006302)|female meiosis I (GO:0007144)|male meiosis I (GO:0007141)|oocyte maturation (GO:0001556)|oogenesis (GO:0048477)|reciprocal meiotic recombination (GO:0007131)|regulation of RNA biosynthetic process (GO:2001141)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|transcription from RNA polymerase II promoter (GO:0006366)	male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)	ATP binding (GO:0005524)|transcription cofactor activity (GO:0003712)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			CATTGAAAACAACGTGTCAAA	0.428																																																0													196	201	199					5																	914652		2203	4300	6503	SO:0001583	missense	9319			L40384	CCDS3858.1	5p15	2010-04-21			ENSG00000071539	ENSG00000071539		"ATPases / AAA-type"	12307	protein-coding gene	gene with protein product	"thyroid receptor interacting protein 13"	604507				7776974	Standard	NM_004237		Approved	16E1BP	uc003jbr.3	Q15645	OTTHUMG00000090349	ENST00000166345.3:c.1093A>T	chr5.hg19:g.914652A>T	ENSP00000166345:p.Asn365Tyr		C9K0T3|D3DTC0|O15324	Missense_Mutation	SNP	ENST00000166345.3	hg19	CCDS3858.1	.	.	.	.	.	.	.	.	.	.	.	15.36	2.811141	0.50527	.	.	ENSG00000071539	ENST00000166345	D	0.95307	-3.67	5.8	5.8	0.92144	.	0.218259	0.51477	D	0.000093	D	0.89856	0.6836	L	0.34521	1.04	0.51233	D	0.999919	B	0.33694	0.421	B	0.31337	0.128	D	0.88757	0.3254	10	0.51188	T	0.08	-5.4017	10.9531	0.47341	0.9266:0.0:0.0734:0.0	.	365	Q15645	PCH2_HUMAN	Y	365	ENSP00000166345:N365Y	ENSP00000166345:N365Y	N	+	1	0	TRIP13	967652	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	3.960000	0.56752	2.224000	0.72417	0.533000	0.62120	AAC		0.428	TRIP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206721.2	NM_004237		T	914652	A	T	914652	3	4	767	1	0	0	0	0	1	0	0	0	16562	130	5	5	1139	5	TRIP13	5	914652	Missense_Mutation	SNP	A	TCGA-MH-A855-01A-11D-A34Z-10		914652	180000608	13	45309											
PGBD1	84547	hgsc.bcm.edu	37	6	28268788	28268788	+	Missense_Mutation	SNP	C	C	T			TCGA-MH-A855-01A-11D-A34Z-10	TCGA-MH-A855-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45f692dd-7c11-4489-9e41-a3288880bb92	d3dee4f3-5666-47be-8e2e-f75389de1c43	g.chr6:28268788C>T	ENST00000405948.2	+	7	1577	c.1157C>T	c.(1156-1158)cCa>cTa	p.P386L	PGBD1_ENST00000259883.3_Missense_Mutation_p.P386L	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	386						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						TCATGTTTCCCAGAAAAGAGT	0.433																																																0													64	68	67					6																	28268788		2203	4300	6503	SO:0001583	missense	84547			D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"-"	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.1157C>T	chr6.hg19:g.28268788C>T	ENSP00000385213:p.Pro386Leu		Q53F43|Q6NTF5|Q8WWS4	Missense_Mutation	SNP	ENST00000405948.2	hg19	CCDS4648.1	.	.	.	.	.	.	.	.	.	.	C	10.60	1.396990	0.25205	.	.	ENSG00000137338	ENST00000405948;ENST00000259883	T;T	0.01347	4.99;4.99	4.54	3.65	0.41850	.	0.184961	0.26715	N	0.022869	T	0.00580	0.0019	L	0.34521	1.04	0.40026	D	0.97547	B	0.28378	0.209	B	0.21360	0.034	T	0.59026	-0.7531	10	0.42905	T	0.14	-10.7499	9.9021	0.41353	0.2033:0.7967:0.0:0.0	.	386	Q96JS3	PGBD1_HUMAN	L	386	ENSP00000385213:P386L;ENSP00000259883:P386L	ENSP00000259883:P386L	P	+	2	0	PGBD1	28376767	0.417000	0.25432	0.214000	0.23707	0.588000	0.36517	2.102000	0.41796	1.218000	0.43458	0.655000	0.94253	CCA		0.433	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2			T	28268788	C	T	28268788	3	4	767	1	0	0	0	0	1	0	0	0	11782	594	21	2	1179	2	PGBD1	6	28268788	Missense_Mutation	SNP	C	TCGA-MH-A855-01A-11D-A34Z-10		28268788	142846279	14	45310											
HOXA2	3199	hgsc.bcm.edu	37	7	27140420	27140420	+	Silent	SNP	T	T	A			TCGA-MH-A855-01A-11D-A34Z-10	TCGA-MH-A855-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45f692dd-7c11-4489-9e41-a3288880bb92	d3dee4f3-5666-47be-8e2e-f75389de1c43	g.chr7:27140420T>A	ENST00000222718.5	-	2	1366	c.1056A>T	c.(1054-1056)gtA>gtT	p.V352V	HOTAIRM1_ENST00000593300.1_RNA|HOTAIRM1_ENST00000425358.2_RNA|HOTAIRM1_ENST00000434063.3_RNA|HOTAIRM1_ENST00000428939.3_RNA|HOTAIRM1_ENST00000429611.3_RNA	NM_006735.3	NP_006726.1	O43364	HXA2_HUMAN	homeobox A2	352					anterior/posterior pattern specification (GO:0009952)|brain segmentation (GO:0035284)|cell fate determination (GO:0001709)|dorsal/ventral pattern formation (GO:0009953)|embryonic viscerocranium morphogenesis (GO:0048703)|middle ear morphogenesis (GO:0042474)|motor neuron axon guidance (GO:0008045)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast development (GO:0002076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|rhombomere 2 development (GO:0021568)|rhombomere 3 morphogenesis (GO:0021658)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						CTGAAATATCTACGGGACTGT	0.443																																																0													87	87	87					7																	27140420		2203	4300	6503	SO:0001819	synonymous_variant	3199				CCDS5403.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105996	ENSG00000105996		"Homeoboxes / ANTP class : HOXL subclass"	5103	protein-coding gene	gene with protein product		604685	"homeo box A2"	HOX1K		1358459	Standard	NM_006735		Approved		uc003syh.3	O43364	OTTHUMG00000023208	ENST00000222718.5:c.1056A>T	chr7.hg19:g.27140420T>A			A1L4K3|B2RMW3	Silent	SNP	ENST00000222718.5	hg19	CCDS5403.1																																																																																				0.443	HOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358508.2			A	27140420	T	A	27140420	2	1	767	1	0	0	0	0	0	0	0	1	7294	1509	53	5		5	HOXA2	7	27140420	Silent	SNP	T	TCGA-MH-A855-01A-11D-A34Z-10		27140420	131998243	15	45311											
DPY19L1	23333	hgsc.bcm.edu	37	7	35006553	35006553	+	Missense_Mutation	SNP	C	C	T			TCGA-MH-A855-01A-11D-A34Z-10	TCGA-MH-A855-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45f692dd-7c11-4489-9e41-a3288880bb92	d3dee4f3-5666-47be-8e2e-f75389de1c43	g.chr7:35006553C>T	ENST00000310974.4	-	10	970	c.826G>A	c.(826-828)Ggg>Agg	p.G276R	DPY19L1_ENST00000462134.2_5'UTR	NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	276						integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring glycosyl groups (GO:0016757)			endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						TCAATGTACCCGACAACATAT	0.249																																																0													43	40	41					7																	35006553		1783	4020	5803	SO:0001583	missense	23333			AB020684	CCDS43567.1	7p14.3-p14.2	2006-04-26			ENSG00000173852	ENSG00000173852			22205	protein-coding gene	gene with protein product		613892					Standard	NM_015283		Approved	KIAA0877	uc003tem.4	Q2PZI1	OTTHUMG00000154888	ENST00000310974.4:c.826G>A	chr7.hg19:g.35006553C>T	ENSP00000308695:p.Gly276Arg		O94954|Q4G151	Missense_Mutation	SNP	ENST00000310974.4	hg19	CCDS43567.1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.649777	0.67358	.	.	ENSG00000173852	ENST00000310974;ENST00000446375	T;T	0.58358	0.34;0.34	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.68329	0.2989	L	0.60845	1.875	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.68221	-0.5466	10	0.44086	T	0.13	-13.2136	15.6504	0.77088	0.0:1.0:0.0:0.0	.	276	Q2PZI1	D19L1_HUMAN	R	276;75	ENSP00000308695:G276R;ENSP00000400510:G75R	ENSP00000308695:G276R	G	-	1	0	DPY19L1	34973078	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	5.342000	0.65970	2.365000	0.80145	0.555000	0.69702	GGG		0.249	DPY19L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337506.1			T	35006553	C	T	35006553	3	4	767	1	0	0	0	0	1	0	0	0	4742	652	23	1	1253	1	DPY19L1	7	35006553	Missense_Mutation	SNP	C	TCGA-MH-A855-01A-11D-A34Z-10	7866133	35006553	124132110	16	45312											
TRAPPC9	83696	hgsc.bcm.edu	37	8	141468506	141468506	+	5'Flank	SNP	C	C	T	rs572038747	byFrequency	TCGA-MH-A855-01A-11D-A34Z-10	TCGA-MH-A855-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45f692dd-7c11-4489-9e41-a3288880bb92	d3dee4f3-5666-47be-8e2e-f75389de1c43	g.chr8:141468506C>T	ENST00000438773.2	-	0	0				TRAPPC9_ENST00000389328.4_Missense_Mutation_p.G53E|TRAPPC9_ENST00000389327.3_5'Flank	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9						cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						CCCGTGACTCCCACGGTCGTG	0.721													C|||	66	0.0131789	0.0484	0.0029	5008	,	,		12228	0.0		0.0	False		,,,				2504	0.0															0													13	13	13					8																	141468506		2190	4273	6463	SO:0001631	upstream_gene_variant	83696			BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"Trafficking protein particle complex"	30832	protein-coding gene	gene with protein product	"TRAPP 120 kDa subunit", "tularik gene 1"	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187		chr8.hg19:g.141468506C>T	Exception_encountered		Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Missense_Mutation	SNP	ENST00000438773.2	hg19	CCDS55278.1	.	.	.	.	.	.	.	.	.	.	C	9.074	0.997622	0.19043	.	.	ENSG00000167632	ENST00000389328	.	.	.	0.857	-0.237	0.13061	.	.	.	.	.	T	0.16128	0.0388	N	0.08118	0	0.09310	N	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.20505	-1.0273	8	0.87932	D	0	.	2.8882	0.05668	0.0:0.5548:0.0:0.4452	.	53	Q96Q05-2	.	E	53	.	ENSP00000373979:G53E	G	-	2	0	TRAPPC9	141537688	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.171000	0.16685	-0.127000	0.11661	0.498000	0.49722	GGG		0.721	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	NM_031466		T	141468506	C	T	141468506	1	4	767	0	1	0	0	0	0	0	0	0	16470	623	22	2		2	TRAPPC9	8	141468506	5'Flank	SNP	C	TCGA-MH-A855-01A-11D-A34Z-10		141468506	4895516	17	45313											
CNTLN	54875	hgsc.bcm.edu	37	9	17298345	17298346	+	Frame_Shift_Ins	INS	-	-	A	rs190561659		TCGA-MH-A855-01A-11D-A34Z-10	TCGA-MH-A855-10A-01D-A34Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45f692dd-7c11-4489-9e41-a3288880bb92	d3dee4f3-5666-47be-8e2e-f75389de1c43	g.chr9:17298345_17298346insA	ENST00000380647.3	+	7	1225_1226	c.1141_1142insA	c.(1141-1143)caafs	p.Q381fs	CNTLN_ENST00000262360.5_Frame_Shift_Ins_p.Q381fs|CNTLN_ENST00000425824.1_Frame_Shift_Ins_p.Q381fs|CNTLN_ENST00000380641.4_Frame_Shift_Ins_p.Q381fs			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	381					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		TATATCATATCAAAAAGTATGC	0.307																																																0																																										SO:0001589	frameshift_variant	54875			AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"chromosome 9 open reading frame 101", "chromosome 9 open reading frame 39"	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.1146dupA	chr9.hg19:g.17298350_17298350dupA	ENSP00000370021:p.Gln381fs		A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Frame_Shift_Ins	INS	ENST00000380647.3	hg19	CCDS43789.1																																																																																				0.307	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	NM_017738		A	17298346	-	A	17298345	7	5	767	1	0	1	1	0	0	0	0	0	3641	827	29	0	1167	0	CNTLN	9	17298345	Frame_Shift_Ins	INS	-	TCGA-MH-A855-01A-11D-A34Z-10		17298345	123915086	18	45314											
OR52J3	119679	hgsc.bcm.edu	37	11	5067977	5067977	+	Silent	SNP	C	C	G			TCGA-MH-A855-01A-11D-A34Z-10	TCGA-MH-A855-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45f692dd-7c11-4489-9e41-a3288880bb92	d3dee4f3-5666-47be-8e2e-f75389de1c43	g.chr11:5067977C>G	ENST00000380370.1	+	1	222	c.222C>G	c.(220-222)gcC>gcG	p.A74A		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	74						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(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGATTTGGCCCTTTCTACAA	0.493																																																0													131	111	118					11																	5067977		2201	4298	6499	SO:0001819	synonymous_variant	119679			AB065530	CCDS31370.1	11p15.4	2012-08-09			ENSG00000205495	ENSG00000205495		"GPCR / Class A : Olfactory receptors"	14799	protein-coding gene	gene with protein product							Standard	NM_001001916		Approved		uc010qyv.2	Q8NH60	OTTHUMG00000066600	ENST00000380370.1:c.222C>G	chr11.hg19:g.5067977C>G			Q6IFE4	Silent	SNP	ENST00000380370.1	hg19	CCDS31370.1																																																																																				0.493	OR52J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142807.1	NM_001001916		G	5067977	C	G	5067977	2	3	767	1	0	0	0	0	0	0	0	1	11124	610	22	4		4	OR52J3	11	5067977	Silent	SNP	C	TCGA-MH-A855-01A-11D-A34Z-10		5067977	129938539	19	45315											
PLCB3	5331	hgsc.bcm.edu	37	11	64033788	64033788	+	Splice_Site	SNP	G	G	A			TCGA-MH-A855-01A-11D-A34Z-10	TCGA-MH-A855-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45f692dd-7c11-4489-9e41-a3288880bb92	d3dee4f3-5666-47be-8e2e-f75389de1c43	g.chr11:64033788G>A	ENST00000540288.1	+	28	3371	c.3268G>A	c.(3268-3270)Gag>Aag	p.E1090K	PLCB3_ENST00000325234.5_Splice_Site_p.E1023K|PLCB3_ENST00000279230.6_Splice_Site_p.E1090K	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	1090				REKKELQKILDRKRHNSISEAKMRDKHKKEA -> SWPSWP RSVRSSGRGSPRRSAGACWARCRRG (in Ref. 2; CAA85776). {ECO:0000305}.	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						CTTCTCCAGGGAGAAGAAGGA	0.572																																																0													54	60	58					11																	64033788		2201	4297	6498	SO:0001630	splice_region_variant	5331			Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.3267-1G>A	chr11.hg19:g.64033788G>A			A5PKZ6|G5E960|Q8N1A4	Missense_Mutation	SNP	ENST00000540288.1	hg19	CCDS8064.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.957261	0.92726	.	.	ENSG00000149782	ENST00000279230;ENST00000540288;ENST00000325234	T;T;T	0.58652	0.32;0.32;0.32	5.17	5.17	0.71159	PLC-beta, C-terminal (1);	0.686476	0.15459	N	0.261221	T	0.75568	0.3867	M	0.65498	2.005	0.80722	D	1	D;P	0.76494	0.999;0.927	D;P	0.81914	0.995;0.842	T	0.76814	-0.2820	10	0.72032	D	0.01	.	17.4353	0.87550	0.0:0.0:1.0:0.0	.	1023;1090	G5E960;Q01970	.;PLCB3_HUMAN	K	1090;1090;1023	ENSP00000279230:E1090K;ENSP00000443631:E1090K;ENSP00000324660:E1023K	ENSP00000279230:E1090K	E	+	1	0	PLCB3	63790364	1.000000	0.71417	1.000000	0.80357	0.562000	0.35680	9.167000	0.94773	2.421000	0.82119	0.555000	0.69702	GAG		0.572	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396405.1		Missense_Mutation	A	64033788	G	A	64033788	5	1	767	1	0	0	0	0	0	0	1	0	12031	1188	41	2	3378	2	PLCB3	11	64033788	Splice_Site	SNP	G	TCGA-MH-A855-01A-11D-A34Z-10	58965811	64033788	70972728	20	45316											
MMP28	79148	hgsc.bcm.edu	37	17	34122300	34122300	+	Missense_Mutation	SNP	C	C	T	rs201598708	byFrequency	TCGA-MH-A855-01A-11D-A34Z-10	TCGA-MH-A855-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45f692dd-7c11-4489-9e41-a3288880bb92	d3dee4f3-5666-47be-8e2e-f75389de1c43	g.chr17:34122300C>T	ENST00000250144.8	-	1	411	c.82G>A	c.(82-84)Gga>Aga	p.G28R		NM_001032278.1	NP_001027449.1	Q9H239	MMP28_HUMAN	matrix metallopeptidase 28	28					negative regulation of macrophage chemotaxis (GO:0010760)	cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|lung(7)|ovary(1)|skin(5)	16		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	Marimastat(DB00786)	TCCTGGCCTCCGCGCTCCGCG	0.716																																																0													7	9	9					17																	34122300		1771	3550	5321	SO:0001583	missense	79148			AF315683	CCDS45651.1, CCDS74036.1	17q12	2014-08-12	2005-08-08		ENSG00000271447	ENSG00000271447			14366	protein-coding gene	gene with protein product		608417	"matrix metalloproteinase 28"			11121398, 11255011	Standard	NM_024302		Approved	MMP-25, MM28, EPILYSIN, MMP-28	uc002hjy.1	Q9H239	OTTHUMG00000188387	ENST00000250144.8:c.82G>A	chr17.hg19:g.34122300C>T	ENSP00000250144:p.Gly28Arg		Q96F04|Q96TE2	Missense_Mutation	SNP	ENST00000250144.8	hg19	CCDS45651.1	.	.	.	.	.	.	.	.	.	.	C	12.85	2.062543	0.36373	.	.	ENSG00000129270	ENST00000338839;ENST00000538544;ENST00000250144	T	0.67171	-0.25	4.41	3.42	0.39159	.	1.443060	0.04714	N	0.418131	T	0.58090	0.2098	.	.	.	0.09310	N	1	D;P	0.54047	0.964;0.898	P;B	0.46299	0.511;0.108	T	0.46119	-0.9214	9	0.12430	T	0.62	.	9.8502	0.41053	0.2041:0.7959:0.0:0.0	.	28;28	Q9H239-2;Q9H239	.;MMP28_HUMAN	R	28	ENSP00000250144:G28R	ENSP00000250144:G28R	G	-	1	0	MMP28	31146413	0.000000	0.05858	0.001000	0.08648	0.130000	0.20726	0.615000	0.24329	1.428000	0.47296	-0.188000	0.12872	GGA		0.716	MMP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449269.1	NM_024302		T	34122300	C	T	34122300	3	4	767	1	0	0	0	0	1	0	0	0	9667	661	23	1	1525	1	MMP28	17	34122300	Missense_Mutation	SNP	C	TCGA-MH-A855-01A-11D-A34Z-10		34122300	47072910	21	45317											
CBX4	8535	hgsc.bcm.edu	37	17	77807917	77807917	+	Silent	SNP	T	T	C			TCGA-MH-A855-01A-11D-A34Z-10	TCGA-MH-A855-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45f692dd-7c11-4489-9e41-a3288880bb92	d3dee4f3-5666-47be-8e2e-f75389de1c43	g.chr17:77807917T>C	ENST00000269397.4	-	5	1701	c.1524A>G	c.(1522-1524)gcA>gcG	p.A508A		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	508	Interaction with BMI1.|Poly-Ala.				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)			TGGGTgccgctgccgccgcca	0.687																																																0													16	24	21					17																	77807917		2078	4093	6171	SO:0001819	synonymous_variant	8535			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.1524A>G	chr17.hg19:g.77807917T>C			B1PJR7|Q6TPI8|Q96C04	Silent	SNP	ENST00000269397.4	hg19	CCDS32758.1																																																																																				0.687	CBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318007.1	NM_003655		C	77807917	T	C	77807917	2	2	767	1	0	0	0	0	0	0	0	1	2722	1567	55	3		3	CBX4	17	77807917	Silent	SNP	T	TCGA-MH-A855-01A-11D-A34Z-10	43685617	77807917	3387293	22	45318											
ATF5	22809	hgsc.bcm.edu	37	19	50436034	50436034	+	Silent	SNP	G	G	T	rs367836750	byFrequency	TCGA-MH-A855-01A-11D-A34Z-10	TCGA-MH-A855-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45f692dd-7c11-4489-9e41-a3288880bb92	d3dee4f3-5666-47be-8e2e-f75389de1c43	g.chr19:50436034G>T	ENST00000423777.2	+	3	911	c.534G>T	c.(532-534)ccG>ccT	p.P178P	ATF5_ENST00000595125.1_Silent_p.P178P|MIR4751_ENST00000578027.1_RNA|CTC-326K19.6_ENST00000451973.1_Intron	NM_001193646.1	NP_001180575.1	Q9Y2D1	ATF5_HUMAN	activating transcription factor 5	178	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)	TGGGGATGCCGCCTCTGCCCC	0.672																																					GBM(48;768 989 9196 9511 26329)											0													29	23	25					19																	50436034		2201	4293	6494	SO:0001819	synonymous_variant	22809			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.534G>T	chr19.hg19:g.50436034G>T			B3KND3|Q9BSA1|Q9UNQ3	Silent	SNP	ENST00000423777.2	hg19	CCDS12789.1																																																																																				0.672	ATF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464915.2			T	50436034	G	T	50436034	2	4	767	1	0	0	0	0	0	0	0	1	1083	1074	38	4		4	ATF5	19	50436034	Silent	SNP	G	TCGA-MH-A855-01A-11D-A34Z-10		50436034	8692949	23	45319											
ZNF584	201514	hgsc.bcm.edu	37	19	58928550	58928550	+	Missense_Mutation	SNP	C	C	A			TCGA-MH-A855-01A-11D-A34Z-10	TCGA-MH-A855-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45f692dd-7c11-4489-9e41-a3288880bb92	d3dee4f3-5666-47be-8e2e-f75389de1c43	g.chr19:58928550C>A	ENST00000306910.4	+	4	1188	c.665C>A	c.(664-666)gCc>gAc	p.A222D	ZNF584_ENST00000599238.1_3'UTR|CTD-2619J13.16_ENST00000596296.1_lincRNA|ZNF584_ENST00000593920.1_Missense_Mutation_p.A177D	NM_173548.1	NP_775819.1	Q8IVC4	ZN584_HUMAN	zinc finger protein 584	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)			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|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;0.0271)		TGTGGGAAGGCCTTCAGTTAC	0.453																																																0													65	64	65					19																	58928550		2203	4300	6503	SO:0001583	missense	201514			AK097218	CCDS12979.1	19q13.43	2013-01-08			ENSG00000171574	ENSG00000171574		"Zinc fingers, C2H2-type", "-"	27318	protein-coding gene	gene with protein product							Standard	NM_173548		Approved	FLJ39899	uc002qsp.3	Q8IVC4		ENST00000306910.4:c.665C>A	chr19.hg19:g.58928550C>A	ENSP00000306756:p.Ala222Asp		A8K203	Missense_Mutation	SNP	ENST00000306910.4	hg19	CCDS12979.1	.	.	.	.	.	.	.	.	.	.	C	14.39	2.520116	0.44866	.	.	ENSG00000171574	ENST00000306910;ENST00000354635	T	0.20069	2.1	3.78	1.63	0.23807	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20861	0.0502	L	0.52011	1.625	0.09310	N	1	B	0.33413	0.411	B	0.39771	0.309	T	0.30387	-0.9980	9	0.87932	D	0	.	3.7	0.08379	0.0:0.5578:0.2082:0.2339	.	222	Q8IVC4	ZN584_HUMAN	D	222;81	ENSP00000306756:A222D	ENSP00000306756:A222D	A	+	2	0	ZNF584	63620362	0.000000	0.05858	0.653000	0.29593	0.797000	0.45037	0.033000	0.13754	0.935000	0.37341	0.555000	0.69702	GCC		0.453	ZNF584-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467022.1	NM_173548		A	58928550	C	A	58928550	3	1	767	1	0	0	0	0	1	0	0	0	18021	739	26	4	679	4	ZNF584	19	58928550	Missense_Mutation	SNP	C	TCGA-MH-A855-01A-11D-A34Z-10	8492516	58928550	200433	24	45320											
SEC23B	10483	hgsc.bcm.edu	37	20	18529410	18529410	+	Missense_Mutation	SNP	C	C	T	rs372083109		TCGA-MH-A855-01A-11D-A34Z-10	TCGA-MH-A855-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45f692dd-7c11-4489-9e41-a3288880bb92	d3dee4f3-5666-47be-8e2e-f75389de1c43	g.chr20:18529410C>T	ENST00000336714.3	+	16	2333	c.1901C>T	c.(1900-1902)cCa>cTa	p.P634L	SEC23B_ENST00000377465.1_Missense_Mutation_p.P634L|SEC23B_ENST00000377475.3_Missense_Mutation_p.P634L|AL121893.1_ENST00000578930.1_RNA|SEC23B_ENST00000262544.2_Missense_Mutation_p.P634L	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	634					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						CATGGGCCACCAGAGGTGAGG	0.433													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16828	0.0		0.0	False		,,,				2504	0.0															0								C	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	0,4406		0,0,2203	105	89	95		1901,1901,1901,1847,1901	4.4	1	20		95	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	SEC23B	NM_032986.3,NM_032985.4,NM_006363.4,NM_001172746.1,NM_001172745.1	98,98,98,98,98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign,benign	634/768,634/768,634/768,616/750,634/768	18529410	1,13005	2203	4300	6503	SO:0001583	missense	10483			X97065	CCDS13137.1	20p11.23	2010-02-09	2001-11-28		ENSG00000101310	ENSG00000101310			10702	protein-coding gene	gene with protein product		610512	"Sec23 (S. cerevisiae) homolog B", "congenital dyserythropoietic anemia, type II"	CDAN2		8898360, 10329445, 19621418	Standard	NM_032985		Approved	CDA-II, CDAII, HEMPAS	uc002wrb.2	Q15437	OTTHUMG00000031976	ENST00000336714.3:c.1901C>T	chr20.hg19:g.18529410C>T	ENSP00000338844:p.Pro634Leu		D3DW33|Q503A9|Q5W183|Q9BS15|Q9BSI2|Q9H1D7	Missense_Mutation	SNP	ENST00000336714.3	hg19	CCDS13137.1	.	.	.	.	.	.	.	.	.	.	C	16.61	3.171570	0.57584	0.0	1.16E-4	ENSG00000101310	ENST00000336714;ENST00000262544;ENST00000377475;ENST00000377465;ENST00000422877	T;T;T;T;D	0.93366	0.25;0.25;0.25;0.25;-3.21	4.44	4.44	0.53790	Gelsolin domain (1);	0.000000	0.85682	D	0.000000	D	0.97142	0.9066	M	0.93720	3.45	0.80722	D	1	P;B	0.49862	0.929;0.291	P;B	0.59825	0.864;0.363	D	0.98225	1.0480	10	0.87932	D	0	-11.4968	16.5981	0.84802	0.0:1.0:0.0:0.0	.	616;634	B4DJW8;Q15437	.;SC23B_HUMAN	L	634;634;634;634;142	ENSP00000338844:P634L;ENSP00000262544:P634L;ENSP00000366695:P634L;ENSP00000366685:P634L;ENSP00000409882:P142L	ENSP00000262544:P634L	P	+	2	0	SEC23B	18477410	1.000000	0.71417	0.968000	0.41197	0.039000	0.13416	7.525000	0.81892	2.467000	0.83353	0.563000	0.77884	CCA		0.433	SEC23B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078184.5			T	18529410	C	T	18529410	3	4	767	1	0	0	0	0	1	0	0	0	13998	594	21	2	1959	2	SEC23B	20	18529410	Missense_Mutation	SNP	C	TCGA-MH-A855-01A-11D-A34Z-10		18529410	44496110	25	45321											
ZMYND8	23613	hgsc.bcm.edu	37	20	45878117	45878117	+	Missense_Mutation	SNP	A	A	C			TCGA-MH-A855-01A-11D-A34Z-10	TCGA-MH-A855-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45f692dd-7c11-4489-9e41-a3288880bb92	d3dee4f3-5666-47be-8e2e-f75389de1c43	g.chr20:45878117A>C	ENST00000311275.7	-	13	1881	c.1628T>G	c.(1627-1629)gTt>gGt	p.V543G	ZMYND8_ENST00000352431.2_Missense_Mutation_p.V563G|ZMYND8_ENST00000446994.2_Missense_Mutation_p.V480G|ZMYND8_ENST00000536340.1_Missense_Mutation_p.V570G|ZMYND8_ENST00000372023.3_Missense_Mutation_p.V538G|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000360911.3_Missense_Mutation_p.V538G|ZMYND8_ENST00000262975.4_Missense_Mutation_p.V543G|ZMYND8_ENST00000355972.4_Missense_Mutation_p.V543G|ZMYND8_ENST00000471951.2_Missense_Mutation_p.V563G|ZMYND8_ENST00000396281.4_Missense_Mutation_p.V543G|ZMYND8_ENST00000540497.1_Missense_Mutation_p.V491G|ZMYND8_ENST00000458360.2_Missense_Mutation_p.V538G|ZMYND8_ENST00000461685.1_Missense_Mutation_p.V563G	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	543					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			GATGAGAGGAACAGGGGTGGA	0.488																																																0													149	129	136					20																	45878117		2203	4300	6503	SO:0001583	missense	23613			U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"Zinc fingers, MYND-type", "Zinc fingers, PHD-type"	9397	protein-coding gene	gene with protein product		615713	"protein kinase C binding protein 1"	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.1628T>G	chr20.hg19:g.45878117A>C	ENSP00000312237:p.Val543Gly		B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Missense_Mutation	SNP	ENST00000311275.7	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.737|0.737	-0.777934|-0.777934	0.02929|0.02929	.|.	.|.	ENSG00000101040|ENSG00000101040	ENST00000467200|ENST00000360911;ENST00000311275;ENST00000458360;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023;ENST00000540497	.|D;D;D;D;D;D;D;D;D;D;D	.|0.90955	.|-1.91;-1.81;-1.94;-1.81;-1.92;-1.82;-1.82;-2.76;-1.81;-1.91;-1.88	5.7|5.7	3.47|3.47	0.39725|0.39725	.|.	.|0.203494	.|0.42294	.|D	.|0.000725	D|D	0.85270|0.85270	0.5658|0.5658	L|L	0.43152|0.43152	1.355|1.355	0.29997|0.29997	N|N	0.81633|0.81633	.|P;B;B;B;B;P;B;B;B;B;B;B;B;B;B;B;B;B	.|0.47762	.|0.9;0.438;0.17;0.17;0.143;0.481;0.234;0.029;0.118;0.029;0.029;0.17;0.083;0.083;0.17;0.161;0.064;0.17	.|B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	.|0.40702	.|0.338;0.138;0.217;0.217;0.243;0.314;0.138;0.096;0.156;0.096;0.096;0.217;0.297;0.297;0.217;0.053;0.122;0.217	T|T	0.81543|0.81543	-0.0885|-0.0885	5|10	.|0.72032	.|D	.|0.01	-17.669|-17.669	8.2758|8.2758	0.31871|0.31871	0.789:0.0:0.211:0.0|0.789:0.0:0.211:0.0	.|.	.|538;570;538;538;518;537;563;543;538;563;563;543;480;538;491;563;491;543	.|B7ZM62;F5H0X3;Q2HXV7;Q2HXV3;Q5TH11;Q5JV90;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;B3KVL2;Q2HXV9;Q2HXV1;Q9ULU4-8;Q2HXV4;B7Z2A8	.|.;.;.;.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.;.;.	W|G	470|538;543;538;544;564;563;543;570;543;480;563;538;491	.|ENSP00000354166:V538G;ENSP00000312237:V543G;ENSP00000392964:V538G;ENSP00000335537:V563G;ENSP00000379577:V543G;ENSP00000439800:V570G;ENSP00000348246:V543G;ENSP00000396725:V480G;ENSP00000418210:V563G;ENSP00000361093:V538G;ENSP00000443086:V491G	.|ENSP00000262975:V544G	C|V	-|-	3|2	2|0	ZMYND8|ZMYND8	45311524|45311524	0.955000|0.955000	0.32602|0.32602	0.029000|0.029000	0.17559|0.17559	0.067000|0.067000	0.16453|0.16453	3.510000|3.510000	0.53393|0.53393	0.451000|0.451000	0.26802|0.26802	0.528000|0.528000	0.53228|0.53228	TGT|GTT		0.488	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047		C	45878117	A	C	45878117	3	2	767	1	0	0	0	0	1	0	0	0	17716	43	2	5	1922	5	ZMYND8	20	45878117	Missense_Mutation	SNP	A	TCGA-MH-A855-01A-11D-A34Z-10	27348707	45878117	17147403	26	45322											
PRIC285	85441	hgsc.bcm.edu	37	20	62196757	62196757	+	Missense_Mutation	SNP	C	C	T			TCGA-MH-A855-01A-11D-A34Z-10	TCGA-MH-A855-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45f692dd-7c11-4489-9e41-a3288880bb92	d3dee4f3-5666-47be-8e2e-f75389de1c43	g.chr20:62196757C>T	ENST00000467148.1	-	8	3487	c.3418G>A	c.(3418-3420)Gag>Aag	p.E1140K	HELZ2_ENST00000427522.2_Missense_Mutation_p.E571K	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	1140					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)										GACGCCCGCTCGAAGGTCTCT	0.701																																																0													12	13	13					20																	62196757		2172	4262	6434	SO:0001583	missense	85441			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.3418G>A	chr20.hg19:g.62196757C>T	ENSP00000417401:p.Glu1140Lys		Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	hg19	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	C	10.97	1.502154	0.26949	.	.	ENSG00000130589	ENST00000427522;ENST00000467148	T;T	0.21361	2.01;2.01	4.81	3.85	0.44370	.	0.563900	0.18326	N	0.144647	T	0.18800	0.0451	L	0.50333	1.59	0.09310	N	0.999995	B;P	0.39352	0.336;0.669	B;B	0.30316	0.022;0.114	T	0.05209	-1.0899	10	0.44086	T	0.13	-17.4384	14.9232	0.70856	0.0:0.8558:0.1442:0.0	.	1140;571	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	K	571;1140	ENSP00000393257:E571K;ENSP00000417401:E1140K	ENSP00000393257:E571K	E	-	1	0	RP4-697K14.7	61667201	0.009000	0.17119	0.030000	0.17652	0.014000	0.08584	1.911000	0.39937	1.001000	0.39076	0.491000	0.48974	GAG		0.701	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		T	62196757	C	T	62196757	3	4	767	1	0	0	0	0	1	0	0	0	12490	893	31	1	4579	1	PRIC285	20	62196757	Missense_Mutation	SNP	C	TCGA-MH-A855-01A-11D-A34Z-10	16318640	62196757	828763	27	45323											
EFCAB6	64800	hgsc.bcm.edu	37	22	44064754	44064754	+	Missense_Mutation	SNP	C	C	G			TCGA-MH-A855-01A-11D-A34Z-10	TCGA-MH-A855-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45f692dd-7c11-4489-9e41-a3288880bb92	d3dee4f3-5666-47be-8e2e-f75389de1c43	g.chr22:44064754C>G	ENST00000262726.7	-	16	2065	c.1812G>C	c.(1810-1812)gaG>gaC	p.E604D	EFCAB6_ENST00000396231.2_Missense_Mutation_p.E452D	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	604					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)				AATTTTACCTCTCAGAAAGAT	0.368																																																0													93	86	89					22																	44064754		2203	4300	6503	SO:0001583	missense	64800			Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"EF-hand domain containing"	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.1812G>C	chr22.hg19:g.44064754C>G	ENSP00000262726:p.Glu604Asp		A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	hg19	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	C	8.514	0.867300	0.17250	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.16324	2.35;2.39	4.97	3.95	0.45737	.	0.983709	0.08286	N	0.969105	T	0.19327	0.0464	M	0.62723	1.935	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.05099	-1.0906	10	0.19590	T	0.45	-6.1905	9.2837	0.37744	0.0:0.9026:0.0:0.0974	.	604	Q5THR3	EFCB6_HUMAN	D	452;604	ENSP00000379533:E452D;ENSP00000262726:E604D	ENSP00000262726:E604D	E	-	3	2	EFCAB6	42396087	0.936000	0.31750	0.917000	0.36280	0.560000	0.35617	0.544000	0.23253	1.327000	0.45338	0.555000	0.69702	GAG		0.368	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		G	44064754	C	G	44064754	3	3	767	1	0	0	0	0	1	0	0	0	4941	912	32	4	2761	4	EFCAB6	22	44064754	Missense_Mutation	SNP	C	TCGA-MH-A855-01A-11D-A34Z-10		44064754	7239812	28	45324											
SEPT6	23157	hgsc.bcm.edu	37	X	118809562	118809562	+	Missense_Mutation	SNP	T	T	C			TCGA-MH-A855-01A-11D-A34Z-10	TCGA-MH-A855-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45f692dd-7c11-4489-9e41-a3288880bb92	d3dee4f3-5666-47be-8e2e-f75389de1c43	g.chrX:118809562T>C	ENST00000343984.5	-	2	364	c.100A>G	c.(100-102)Aat>Gat	p.N34D	SEPT6_ENST00000394616.4_5'UTR|SEPT6_ENST00000489216.1_Missense_Mutation_p.N34D|SEPT6_ENST00000360156.7_Missense_Mutation_p.N34D|SEPT6_ENST00000354416.3_Missense_Mutation_p.N34D|SEPT6_ENST00000394610.1_Missense_Mutation_p.N34D|SEPT6_ENST00000354228.4_Missense_Mutation_p.N34D|SEPT6_ENST00000394617.2_Missense_Mutation_p.N64D	NM_015129.5	NP_055944.2	Q14141	SEPT6_HUMAN	septin 6	34					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						ACGGACTTATTCACCAGCTGG	0.493			T	MLL	AML																																		Dom	yes		X	Xq24	23157	septin 6		L	0													70	46	54					X																	118809562		2203	4300	6503	SO:0001583	missense	23157			D50918	CCDS14583.1, CCDS14584.1, CCDS14585.1	Xq24	2013-01-21			ENSG00000125354	ENSG00000125354		"Septins"	15848	protein-coding gene	gene with protein product		300683				8590280, 10744683	Standard	NM_015129		Approved	KIAA0128, SEP2, SEPT2, MGC16619, MGC20339	uc004erv.3	Q14141	OTTHUMG00000022280	ENST00000343984.5:c.100A>G	chrX.hg19:g.118809562T>C	ENSP00000341524:p.Asn34Asp		Q5JTK0|Q969W5|Q96A13|Q96GR1|Q96P86|Q96P87	Missense_Mutation	SNP	ENST00000343984.5	hg19	CCDS14584.1	.	.	.	.	.	.	.	.	.	.	T	18.73	3.685597	0.68157	.	.	ENSG00000125354	ENST00000360156;ENST00000354228;ENST00000489216;ENST00000354416;ENST00000394610;ENST00000343984;ENST00000394617;ENST00000520510	T;T;T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43;1.43;1.43	5.82	5.82	0.92795	.	0.042909	0.85682	D	0.000000	T	0.45458	0.1343	L	0.56396	1.775	0.80722	D	1	P;B;B	0.48640	0.913;0.143;0.003	P;B;B	0.54544	0.755;0.173;0.005	T	0.33979	-0.9847	10	0.45353	T	0.12	.	14.1936	0.65654	0.0:0.0:0.0:1.0	.	64;34;34	F5H1J5;Q14141;Q548C9	.;SEPT6_HUMAN;.	D	34;34;34;34;34;34;64;34	ENSP00000353278:N34D;ENSP00000346169:N34D;ENSP00000418715:N34D;ENSP00000346397:N34D;ENSP00000378108:N34D;ENSP00000341524:N34D;ENSP00000378115:N64D	ENSP00000341524:N34D	N	-	1	0	SEPT6	118693590	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.698000	0.84413	1.950000	0.56595	0.417000	0.27973	AAT		0.493	SEPT6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058059.1	NM_145802		C	118809562	T	C	118809562	3	2	767	1	0	0	0	0	1	0	0	0	14074	1783	62	3	1262	3	SEPT6	23	118809562	Missense_Mutation	SNP	T	TCGA-MH-A855-01A-11D-A34Z-10		118809562	36460998	29	45325											
HCRTR1	3061	hgsc.bcm.edu	37	1	32092534	32092534	+	Missense_Mutation	SNP	A	A	C			TCGA-MH-A856-01A-11D-A34Z-10	TCGA-MH-A856-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	08268f2c-7eb1-4f12-8ef8-7878585d4e39	e6f69dd8-8606-463e-a198-de6007153945	g.chr1:32092534A>C	ENST00000373706.5	+	7	1384	c.1231A>C	c.(1231-1233)Atc>Ctc	p.I411L	HCRTR1_ENST00000373705.1_Intron|HCRTR1_ENST00000403528.2_Missense_Mutation_p.I411L|HCRTR1_ENST00000468521.1_Intron			O43613	OX1R_HUMAN	hypocretin (orexin) receptor 1	411					feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|orexin receptor activity (GO:0016499)|peptide hormone binding (GO:0017046)			breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		CATCTCCAAAATCTCTGAGCA	0.652																																																0													103	101	102					1																	32092534		2203	4300	6503	SO:0001583	missense	3061			AF041243	CCDS344.1	1p33	2012-08-08			ENSG00000121764	ENSG00000121764		"GPCR / Class A : Hypocretin (orexin) receptors"	4848	protein-coding gene	gene with protein product		602392				9491897	Standard	NM_001525		Approved	OX1R	uc009vtx.2	O43613	OTTHUMG00000003876	ENST00000373706.5:c.1231A>C	chr1.hg19:g.32092534A>C	ENSP00000362810:p.Ile411Leu		A8K3A6|Q9HBV6	Missense_Mutation	SNP	ENST00000373706.5	hg19	CCDS344.1	.	.	.	.	.	.	.	.	.	.	A	0.048	-1.258738	0.01445	.	.	ENSG00000121764	ENST00000403528;ENST00000373706	T;T	0.59364	0.27;0.27	4.58	0.0883	0.14454	.	0.624474	0.15468	N	0.260782	T	0.22898	0.0553	N	0.02916	-0.46	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.23226	-1.0194	10	0.06625	T	0.88	.	5.0151	0.14331	0.4204:0.1475:0.4321:0.0	.	411	O43613	OX1R_HUMAN	L	411	ENSP00000384387:I411L;ENSP00000362810:I411L	ENSP00000362810:I411L	I	+	1	0	HCRTR1	31865121	0.988000	0.35896	0.023000	0.16930	0.847000	0.48162	0.244000	0.18124	-0.388000	0.07797	-2.581000	0.00168	ATC		0.652	HCRTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011042.1	NM_001525		C	32092534	A	C	32092534	3	2	768	1	0	0	0	0	1	0	0	0	7003	101	4	5	1257	5	HCRTR1	1	32092534	Missense_Mutation	SNP	A	TCGA-MH-A856-01A-11D-A34Z-10		32092534	217158087	1	45326											
HIVEP3	59269	hgsc.bcm.edu	37	1	42047342	42047343	+	Frame_Shift_Ins	INS	-	-	T			TCGA-MH-A856-01A-11D-A34Z-10	TCGA-MH-A856-10A-01D-A34Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	08268f2c-7eb1-4f12-8ef8-7878585d4e39	e6f69dd8-8606-463e-a198-de6007153945	g.chr1:42047342_42047343insT	ENST00000372583.1	-	4	4011_4012	c.3126_3127insA	c.(3124-3129)aaatgcfs	p.C1043fs	HIVEP3_ENST00000247584.5_Frame_Shift_Ins_p.C1043fs|HIVEP3_ENST00000429157.2_Frame_Shift_Ins_p.C1043fs|HIVEP3_ENST00000460604.1_5'Flank|HIVEP3_ENST00000372584.1_Frame_Shift_Ins_p.C1043fs	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1043	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)				ACCAAGAAGCATTTTCTTCTCT	0.589																																																0																																										SO:0001589	frameshift_variant	59269			AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"Zinc fingers, C2H2-type"	13561	protein-coding gene	gene with protein product	"kappabinding protein-1"	606649	"human immunodeficiency virus type I enhancer-binding protein 3"			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.3127dupA	chr1.hg19:g.42047346_42047346dupT	ENSP00000361664:p.Cys1043fs		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Frame_Shift_Ins	INS	ENST00000372583.1	hg19	CCDS463.1																																																																																				0.589	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		T	42047343	-	T	42047342	7	5	768	1	0	1	1	0	0	0	0	0	7190	217	8	0	4117	0	HIVEP3	1	42047342	Frame_Shift_Ins	INS	-	TCGA-MH-A856-01A-11D-A34Z-10	9954808	42047342	207203279	2	45327											
MUTYH	4595	hgsc.bcm.edu	37	1	45797966	45797966	+	Missense_Mutation	SNP	G	G	C			TCGA-MH-A856-01A-11D-A34Z-10	TCGA-MH-A856-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	08268f2c-7eb1-4f12-8ef8-7878585d4e39	e6f69dd8-8606-463e-a198-de6007153945	g.chr1:45797966G>C	ENST00000372098.3	-	10	929	c.796C>G	c.(796-798)Ctg>Gtg	p.L266V	MUTYH_ENST00000529984.1_Intron|MUTYH_ENST00000528332.2_Intron|MUTYH_ENST00000456914.2_Missense_Mutation_p.L241V|MUTYH_ENST00000372100.5_Missense_Mutation_p.L252V|MUTYH_ENST00000488731.2_Intron|MUTYH_ENST00000528013.2_Missense_Mutation_p.L255V|MUTYH_ENST00000355498.2_Missense_Mutation_p.L241V|MUTYH_ENST00000450313.1_Missense_Mutation_p.L269V|MUTYH_ENST00000372115.3_Missense_Mutation_p.L255V|MUTYH_ENST00000372110.3_Missense_Mutation_p.L256V|MUTYH_ENST00000354383.6_Missense_Mutation_p.L242V|MUTYH_ENST00000372104.1_Missense_Mutation_p.L241V|MUTYH_ENST00000448481.1_Missense_Mutation_p.L252V|MUTYH_ENST00000531105.1_Intron			Q9UIF7	MUTYH_HUMAN	mutY homolog	266					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)					GGGTCCACCAGCTGCTGGGCT	0.592			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis																													yes	Rec		Adenomatous polyposis coli	1	1p34.3-1p32.1	4595	mutY homolog (E. coli)		E	0													29	30	30					1																	45797966		2203	4300	6503	SO:0001583	missense	4595	Familial Cancer Database	MAP, MYH-associated polyposis	U63329	CCDS520.1, CCDS41320.1, CCDS41321.1, CCDS41322.1, CCDS72776.1, CCDS72777.1	1p34.1	2014-09-17	2013-09-12		ENSG00000132781	ENSG00000132781			7527	protein-coding gene	gene with protein product		604933	"mutY (E. coli) homolog", "mutY homolog (E. coli)"			7823963, 10684930	Standard	NM_012222		Approved	MYH	uc009vxp.3	Q9UIF7	OTTHUMG00000007682	ENST00000372098.3:c.796C>G	chr1.hg19:g.45797966G>C	ENSP00000361170:p.Leu266Val		D3DPZ4|Q15830|Q9UBP2|Q9UBS7|Q9UIF4|Q9UIF5|Q9UIF6	Missense_Mutation	SNP	ENST00000372098.3	hg19	CCDS520.1	.	.	.	.	.	.	.	.	.	.	G	11.99	1.803564	0.31869	.	.	ENSG00000132781	ENST00000372104;ENST00000448481;ENST00000456914;ENST00000354383;ENST00000355498;ENST00000372098;ENST00000372110;ENST00000372115;ENST00000450313;ENST00000372100;ENST00000525481;ENST00000412971;ENST00000435155	D;D;D;D;D;D;D;D;D;D;D;D	0.94138	-3.36;-3.36;-3.36;-3.36;-3.36;-3.36;-3.36;-3.36;-3.36;-3.36;-3.36;-3.36	5.64	3.71	0.42584	HhH-GPD domain (1);DNA glycosylase (1);Helix-turn-helix, base-excision DNA repair, C-terminal (1);	0.075116	0.53938	D	0.000042	D	0.94518	0.8235	M	0.68952	2.095	0.46317	D	0.998987	D;P;D;P;D;P;D	0.57571	0.965;0.695;0.98;0.695;0.965;0.92;0.965	P;B;P;B;P;P;P	0.57009	0.578;0.217;0.811;0.217;0.578;0.578;0.652	D	0.93723	0.7034	10	0.72032	D	0.01	-15.3824	11.2119	0.48804	0.1549:0.0:0.8451:0.0	.	269;266;256;266;255;149;242	E5KP25;E5KP26;Q9UIF7-2;Q9UIF7;E5KP27;D3DPZ6;E5KP28	.;.;.;MUTYH_HUMAN;.;.;.	V	241;252;241;242;241;266;256;255;269;252;113;113;252	ENSP00000361176:L241V;ENSP00000409718:L252V;ENSP00000407590:L241V;ENSP00000346354:L242V;ENSP00000347685:L241V;ENSP00000361170:L266V;ENSP00000361182:L256V;ENSP00000361187:L255V;ENSP00000408176:L269V;ENSP00000361172:L252V;ENSP00000410263:L113V;ENSP00000403655:L252V	ENSP00000346354:L242V	L	-	1	2	MUTYH	45570553	0.782000	0.28689	0.997000	0.53966	0.320000	0.28249	1.025000	0.30090	0.676000	0.31285	-0.150000	0.13652	CTG		0.592	MUTYH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020529.1	NM_012222		C	45797966	G	C	45797966	3	2	768	1	0	0	0	0	1	0	0	0	9995	962	34	4	872	4	MUTYH	1	45797966	Missense_Mutation	SNP	G	TCGA-MH-A856-01A-11D-A34Z-10	3750624	45797966	203452655	3	45328											
LRP8	7804	hgsc.bcm.edu	37	1	53722944	53722944	+	Missense_Mutation	SNP	A	A	C			TCGA-MH-A856-01A-11D-A34Z-10	TCGA-MH-A856-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	08268f2c-7eb1-4f12-8ef8-7878585d4e39	e6f69dd8-8606-463e-a198-de6007153945	g.chr1:53722944A>C	ENST00000306052.6	-	15	2503	c.2402T>G	c.(2401-2403)cTa>cGa	p.L801R	LRP8_ENST00000371454.2_Missense_Mutation_p.L801R|LRP8_ENST00000460214.1_5'UTR|LRP8_ENST00000465675.1_Missense_Mutation_p.L354R|LRP8_ENST00000347547.2_Missense_Mutation_p.L631R|LRP8_ENST00000354412.3_Intron	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	801					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						TGCAGGGCTTAGGGTAGACGG	0.562																																																0													175	154	161					1																	53722944		2203	4300	6503	SO:0001583	missense	7804			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.2402T>G	chr1.hg19:g.53722944A>C	ENSP00000303634:p.Leu801Arg		B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78	Missense_Mutation	SNP	ENST00000306052.6	hg19	CCDS578.1	.	.	.	.	.	.	.	.	.	.	A	4.412	0.076180	0.08485	.	.	ENSG00000157193	ENST00000306052;ENST00000371454;ENST00000465675;ENST00000347547	T;T;T;T	0.22336	1.96;1.96;1.96;1.96	5.94	2.98	0.34508	.	.	.	.	.	T	0.08133	0.0203	N	0.08118	0	0.09310	N	1	B;B;P;B;B	0.34757	0.0;0.38;0.467;0.043;0.001	B;B;B;B;B	0.29176	0.001;0.076;0.099;0.021;0.002	T	0.31223	-0.9951	9	0.16420	T	0.52	.	5.4585	0.16604	0.2396:0.0:0.6203:0.1401	.	354;631;801;801;354	B3KU40;Q14114-4;Q14114-3;Q14114;E9PP15	.;.;.;LRP8_HUMAN;.	R	801;801;354;631	ENSP00000303634:L801R;ENSP00000360509:L801R;ENSP00000437009:L354R;ENSP00000334522:L631R	ENSP00000303634:L801R	L	-	2	0	LRP8	53495532	0.486000	0.25980	0.454000	0.27019	0.839000	0.47603	0.158000	0.16422	0.364000	0.24374	-0.248000	0.11899	CTA		0.562	LRP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024699.1	NM_004631		C	53722944	A	C	53722944	3	2	768	1	0	0	0	0	1	0	0	0	8965	420	15	5	509	5	LRP8	1	53722944	Missense_Mutation	SNP	A	TCGA-MH-A856-01A-11D-A34Z-10	7924978	53722944	195527677	4	45329											
PIGK	10026	hgsc.bcm.edu	37	1	77620232	77620232	+	Missense_Mutation	SNP	T	T	G			TCGA-MH-A856-01A-11D-A34Z-10	TCGA-MH-A856-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	08268f2c-7eb1-4f12-8ef8-7878585d4e39	e6f69dd8-8606-463e-a198-de6007153945	g.chr1:77620232T>G	ENST00000370812.3	-	9	911	c.888A>C	c.(886-888)aaA>aaC	p.K296N	PIGK_ENST00000359130.1_Missense_Mutation_p.K296N|PIGK_ENST00000445065.1_Missense_Mutation_p.K202N|PIGK_ENST00000478391.1_5'UTR|PIGK_ENST00000370813.5_Missense_Mutation_p.K220N	NM_005482.2	NP_005473.1	Q92643	GPI8_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class K	296					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	cysteine-type endopeptidase activity (GO:0004197)|GPI-anchor transamidase activity (GO:0003923)|protein disulfide isomerase activity (GO:0003756)			endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	19						TCAGTACATTTTTAGGATCCC	0.358																																																0													107	103	104					1																	77620232		2203	4300	6503	SO:0001583	missense	10026			AF022913	CCDS674.1	1p31.1	2013-02-26	2006-06-28		ENSG00000142892	ENSG00000142892		"Phosphatidylinositol glycan anchor biosynthesis"	8965	protein-coding gene	gene with protein product	"GPI transamidase subunit"	605087	"phosphatidylinositol glycan, class K"			9356492	Standard	NM_005482		Approved	hGPI8, GPI8	uc001dhk.3	Q92643	OTTHUMG00000009686	ENST00000370812.3:c.888A>C	chr1.hg19:g.77620232T>G	ENSP00000359848:p.Lys296Asn		B2R7K3|B4E2M3|O14822|Q5TG77	Missense_Mutation	SNP	ENST00000370812.3	hg19	CCDS674.1	.	.	.	.	.	.	.	.	.	.	T	11.78	1.741690	0.30865	.	.	ENSG00000142892	ENST00000370812;ENST00000445065;ENST00000370813;ENST00000359130	T;T;T;T	0.46063	0.89;0.88;0.88;0.89	5.11	3.98	0.46160	.	0.370552	0.31897	N	0.006890	T	0.10035	0.0246	N	0.19112	0.55	0.33023	D	0.529102	B;B;B;B	0.06786	0.001;0.001;0.0;0.0	B;B;B;B	0.15052	0.012;0.008;0.008;0.008	T	0.12915	-1.0529	10	0.22109	T	0.4	-14.8515	4.9815	0.14168	0.1415:0.1428:0.0:0.7157	.	220;202;296;296	B4E2M3;B1AK81;A6NEM5;Q92643	.;.;.;GPI8_HUMAN	N	296;202;220;296	ENSP00000359848:K296N;ENSP00000388854:K202N;ENSP00000359849:K220N;ENSP00000352041:K296N	ENSP00000352041:K296N	K	-	3	2	PIGK	77392820	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.781000	0.26774	2.050000	0.60909	0.482000	0.46254	AAA		0.358	PIGK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026687.1	NM_005482		G	77620232	T	G	77620232	3	3	768	1	0	0	0	0	1	0	0	0	11892	1838	64	5	311	5	PIGK	1	77620232	Missense_Mutation	SNP	T	TCGA-MH-A856-01A-11D-A34Z-10	23897288	77620232	171630389	5	45330											
GON4L	54856	hgsc.bcm.edu	37	1	155823224	155823224	+	Silent	SNP	T	T	G			TCGA-MH-A856-01A-11D-A34Z-10	TCGA-MH-A856-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	08268f2c-7eb1-4f12-8ef8-7878585d4e39	e6f69dd8-8606-463e-a198-de6007153945	g.chr1:155823224T>G	ENST00000368331.1	-	2	396	c.348A>C	c.(346-348)atA>atC	p.I116I	GON4L_ENST00000437809.1_Silent_p.I116I|GON4L_ENST00000271883.5_Silent_p.I116I|GON4L_ENST00000361040.5_Silent_p.I116I|GON4L_ENST00000471341.1_5'UTR	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	116					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TACCAATGTGTATATTAAGGG	0.458																																																0													123	121	122					1																	155823224		2203	4300	6503	SO:0001819	synonymous_variant	54856			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"gon-4 homolog (C.elegans)"	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.348A>C	chr1.hg19:g.155823224T>G			B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Silent	SNP	ENST00000368331.1	hg19																																																																																					0.458	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		G	155823224	T	G	155823224	2	3	768	1	0	0	0	0	0	0	0	1	6574	1628	57	5		5	GON4L	1	155823224	Silent	SNP	T	TCGA-MH-A856-01A-11D-A34Z-10	78202992	155823224	93427397	6	45331											
FAM5B	57795	hgsc.bcm.edu	37	1	177245534	177245534	+	Missense_Mutation	SNP	T	T	C	rs368629885		TCGA-MH-A856-01A-11D-A34Z-10	TCGA-MH-A856-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	08268f2c-7eb1-4f12-8ef8-7878585d4e39	e6f69dd8-8606-463e-a198-de6007153945	g.chr1:177245534T>C	ENST00000361539.4	+	6	1288	c.976T>C	c.(976-978)Tcc>Ccc	p.S326P	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	326					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)											GATCCAGGACTCCTGGGCCAC	0.567																																																0													63	55	58					1																	177245534		2203	4300	6503	SO:0001583	missense	57795				CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"family with sequence similarity 5, member B"	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.976T>C	chr1.hg19:g.177245534T>C	ENSP00000354481:p.Ser326Pro		O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	ENST00000361539.4	hg19	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	T	15.57	2.871574	0.51695	.	.	ENSG00000198797	ENST00000536589;ENST00000361539	T	0.15256	2.44	6.07	0.802	0.18686	.	0.390200	0.28209	N	0.016191	T	0.13114	0.0318	L	0.39898	1.24	0.36544	D	0.871453	B;P;B	0.37038	0.256;0.579;0.037	B;B;B	0.38755	0.189;0.281;0.029	T	0.12708	-1.0537	10	0.72032	D	0.01	-17.6413	6.0285	0.19667	0.3365:0.0:0.3715:0.2919	.	76;221;326	F5H8E0;Q9C0B6-2;Q9C0B6	.;.;FAM5B_HUMAN	P	76;326	ENSP00000354481:S326P	ENSP00000354481:S326P	S	+	1	0	FAM5B	175512157	0.029000	0.19370	1.000000	0.80357	0.994000	0.84299	0.314000	0.19432	0.475000	0.27415	0.533000	0.62120	TCC		0.567	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165		C	177245534	T	C	177245534	3	2	768	1	0	0	0	0	1	0	0	0	5595	1551	54	3	994	3	FAM5B	1	177245534	Missense_Mutation	SNP	T	TCGA-MH-A856-01A-11D-A34Z-10	21422310	177245534	72005087	7	45332											
JMJD4	65094	hgsc.bcm.edu	37	1	227921688	227921688	+	Silent	SNP	C	C	G			TCGA-MH-A856-01A-11D-A34Z-10	TCGA-MH-A856-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	08268f2c-7eb1-4f12-8ef8-7878585d4e39	e6f69dd8-8606-463e-a198-de6007153945	g.chr1:227921688C>G	ENST00000366758.3	-	3	611	c.612G>C	c.(610-612)tcG>tcC	p.S204S	SNAP47_ENST00000366760.1_Intron|JMJD4_ENST00000438896.2_Silent_p.S204S|SNAP47_ENST00000366759.4_5'Flank|JMJD4_ENST00000485807.1_5'UTR|SNAP47_ENST00000315781.5_5'Flank|SNAP47_ENST00000480897.1_3'UTR	NM_023007.2	NP_075383.2	Q9H9V9	JMJD4_HUMAN	jumonji domain containing 4	204	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.									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)				GCCAGTCGGACGAGAAGTACA	0.612																																																0													145	115	125					1																	227921688		2203	4300	6503	SO:0001819	synonymous_variant	65094			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.612G>C	chr1.hg19:g.227921688C>G			Q5TBZ1|Q5TBZ6|Q9H970	Silent	SNP	ENST00000366758.3	hg19	CCDS1561.1	.	.	.	.	.	.	.	.	.	.	.	0.076	-1.192619	0.01607	.	.	ENSG00000081692	ENST00000438896	.	.	.	4.16	-8.31	0.01001	.	.	.	.	.	T	0.42086	0.1187	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52616	-0.8552	4	.	.	.	-14.4929	3.4793	0.07597	0.176:0.329:0.3564:0.1386	.	.	.	.	P	197	.	.	R	-	2	0	JMJD4	225988311	0.000000	0.05858	0.022000	0.16811	0.139000	0.21198	-2.996000	0.00655	-3.988000	0.00084	-4.550000	0.00004	CGT		0.612	JMJD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091970.1	NM_023007		G	227921688	C	G	227921688	2	3	768	1	0	0	0	0	0	0	0	1	7953	523	19	4		4	JMJD4	1	227921688	Silent	SNP	C	TCGA-MH-A856-01A-11D-A34Z-10	50676154	227921688	21328933	8	45333											
ABCB10	23456	hgsc.bcm.edu	37	1	229666004	229666004	+	Silent	SNP	A	A	G			TCGA-MH-A856-01A-11D-A34Z-10	TCGA-MH-A856-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	08268f2c-7eb1-4f12-8ef8-7878585d4e39	e6f69dd8-8606-463e-a198-de6007153945	g.chr1:229666004A>G	ENST00000344517.4	-	8	1629	c.1587T>C	c.(1585-1587)agT>agC	p.S529S		NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	529	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				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)				TGCCAGAACCACTTGGGCCAA	0.537																																																0													111	102	105					1																	229666004		2203	4300	6503	SO:0001819	synonymous_variant	23456			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.1587T>C	chr1.hg19:g.229666004A>G			Q13040|Q6P1Q8|Q9H3V0	Silent	SNP	ENST00000344517.4	hg19	CCDS1580.1																																																																																				0.537	ABCB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095240.1	NM_012089		G	229666004	A	G	229666004	2	3	768	1	0	0	0	0	0	0	0	1	41	156	6	3		3	ABCB10	1	229666004	Silent	SNP	A	TCGA-MH-A856-01A-11D-A34Z-10	1744316	229666004	19584617	9	45334											
TGOLN2	10618	hgsc.bcm.edu	37	2	85554384	85554384	+	Silent	SNP	C	C	T			TCGA-MH-A856-01A-11D-A34Z-10	TCGA-MH-A856-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	08268f2c-7eb1-4f12-8ef8-7878585d4e39	e6f69dd8-8606-463e-a198-de6007153945	g.chr2:85554384C>T	ENST00000409232.3	-	2	532	c.471G>A	c.(469-471)gaG>gaA	p.E157E	TGOLN2_ENST00000409015.1_Silent_p.E157E|TGOLN2_ENST00000444342.2_Silent_p.E157E|TGOLN2_ENST00000398263.2_Silent_p.E157E|TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000377386.3_Silent_p.E157E			O43493	TGON2_HUMAN	trans-golgi network protein 2	157	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)											GGGTCTTTGCCTCCGCACCCG	0.587																																																0													298	303	301					2																	85554384		1962	4150	6112	SO:0001819	synonymous_variant	10618			AF027515	CCDS46351.1, CCDS56126.1, CCDS56127.1	2p11.2	2012-06-25			ENSG00000152291	ENSG00000152291			15450	protein-coding gene	gene with protein product	"trans-Golgi network protein (46, 48, 51kD isoforms)"	603062				9422759, 21994457	Standard	NM_001206840		Approved	TGN51, TGN46, TGN48, TGN38, TTGN2	uc021vjw.1	O43493	OTTHUMG00000153017	ENST00000409232.3:c.471G>A	chr2.hg19:g.85554384C>T			B2R686|B8ZZ88|D6W5K3|F8WBK2|O15282|O43492|O43499|O43500|O43501|Q53G68|Q53GV2|Q6MZV1|Q6ZTM7|Q8N6T8|Q92760|Q96QL2	Silent	SNP	ENST00000409232.3	hg19	CCDS56126.1																																																																																				0.587	TGOLN2-006	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000329045.2	NM_006464		T	85554384	C	T	85554384	2	4	768	1	0	0	0	0	0	0	0	1	15841	680	24	2		2	TGOLN2	2	85554384	Silent	SNP	C	TCGA-MH-A856-01A-11D-A34Z-10		85554384	157644989	10	45335											
GPR39	2863	hgsc.bcm.edu	37	2	133174849	133174849	+	Silent	SNP	G	G	T			TCGA-MH-A856-01A-11D-A34Z-10	TCGA-MH-A856-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	08268f2c-7eb1-4f12-8ef8-7878585d4e39	e6f69dd8-8606-463e-a198-de6007153945	g.chr2:133174849G>T	ENST00000329321.3	+	1	703	c.234G>T	c.(232-234)tcG>tcT	p.S78S		NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	78					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						TGGCTTGCTCGGACATCTTGG	0.552																																																0													247	222	231					2																	133174849		2203	4300	6503	SO:0001819	synonymous_variant	2863			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.234G>T	chr2.hg19:g.133174849G>T			B2RC12|B6V9G4|Q08AS2|Q53R01	Silent	SNP	ENST00000329321.3	hg19	CCDS2170.1																																																																																				0.552	GPR39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254582.1			T	133174849	G	T	133174849	2	4	768	1	0	0	0	0	0	0	0	1	6695	1103	39	4		4	GPR39	2	133174849	Silent	SNP	G	TCGA-MH-A856-01A-11D-A34Z-10	47620465	133174849	110024524	11	45336											
R3HDM1	23518	hgsc.bcm.edu	37	2	136467748	136467748	+	Missense_Mutation	SNP	C	C	G	rs143703596		TCGA-MH-A856-01A-11D-A34Z-10	TCGA-MH-A856-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	08268f2c-7eb1-4f12-8ef8-7878585d4e39	e6f69dd8-8606-463e-a198-de6007153945	g.chr2:136467748C>G	ENST00000264160.4	+	22	2948	c.2578C>G	c.(2578-2580)Cac>Gac	p.H860D	R3HDM1_ENST00000409606.1_Missense_Mutation_p.H861D|R3HDM1_ENST00000409478.1_Missense_Mutation_p.H732D|R3HDM1_ENST00000329971.3_Missense_Mutation_p.H731D|R3HDM1_ENST00000410054.1_Missense_Mutation_p.H805D	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	860							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)		TTACTGTGATCACCAGAGAGG	0.413											OREG0014997	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													138	124	129					2																	136467748		2203	4300	6503	SO:0001583	missense	23518			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.2578C>G	chr2.hg19:g.136467748C>G	ENSP00000264160:p.His860Asp	1626	A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Missense_Mutation	SNP	ENST00000264160.4	hg19	CCDS2177.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	4.899|4.899|4.899	0.167091|0.167091|0.167091	0.09339|0.09339|0.09339	.|.|.	.|.|.	ENSG00000048991|ENSG00000048991|ENSG00000048991	ENST00000409478;ENST00000264160;ENST00000329971;ENST00000410054;ENST00000409606|ENST00000445855|ENST00000429703	T;T;T;T;T|.|.	0.29655|.|.	1.57;1.56;1.57;1.56;1.56|.|.	5.49|5.49|5.49	3.66|3.66|3.66	0.41972|0.41972|0.41972	.|.|.	0.381500|.|.	0.28241|.|.	N|.|.	0.016076|.|.	T|T|.	0.35799|0.35799|.	0.0944|0.0944|.	L|L|L	0.33485|0.33485|0.33485	1.01|1.01|1.01	0.28870|0.28870|0.28870	N|N|N	0.89501|0.89501|0.89501	P;P;P;P|.|.	0.52316|.|.	0.952;0.704;0.651;0.651|.|.	P;B;B;B|.|.	0.49922|.|.	0.626;0.079;0.115;0.058|.|.	T|T|.	0.21759|0.21759|.	-1.0236|-1.0236|.	10|5|.	0.10902|.|.	T|.|.	0.67|.|.	-3.3318|-3.3318|-3.3318	10.1209|10.1209|10.1209	0.42621|0.42621|0.42621	0.1369:0.7911:0.0:0.072|0.1369:0.7911:0.0:0.072|0.1369:0.7911:0.0:0.072	.|.|.	732;861;805;860|.|.	G5E9G8;E9PBB4;E9PG42;Q15032|.|.	.;.;.;R3HD1_HUMAN|.|.	D|M|X	732;860;731;805;861|155|583	ENSP00000386457:H732D;ENSP00000264160:H860D;ENSP00000331396:H731D;ENSP00000386877:H805D;ENSP00000387010:H861D|.|.	ENSP00000264160:H860D|.|.	H|I|S	+|+|+	1|3|2	0|3|0	R3HDM1|R3HDM1|R3HDM1	136184218|136184218|136184218	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.996000|0.996000|0.996000	0.88848|0.88848|0.88848	5.896000|5.896000|5.896000	0.69822|0.69822|0.69822	0.652000|0.652000|0.652000	0.30806|0.30806|0.30806	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	CAC|ATC|TCA		0.413	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254659.1	NM_015361		G	136467748	C	G	136467748	3	3	768	1	0	0	0	0	1	0	0	0	12893	826	29	4	2656	4	R3HDM1	2	136467748	Missense_Mutation	SNP	C	TCGA-MH-A856-01A-11D-A34Z-10	3292899	136467748	106731625	12	45337											
GPR155	151556	hgsc.bcm.edu	37	2	175330526	175330526	+	Silent	SNP	G	G	T			TCGA-MH-A856-01A-11D-A34Z-10	TCGA-MH-A856-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	08268f2c-7eb1-4f12-8ef8-7878585d4e39	e6f69dd8-8606-463e-a198-de6007153945	g.chr2:175330526G>T	ENST00000392552.2	-	7	1609	c.1371C>A	c.(1369-1371)acC>acA	p.T457T	GPR155_ENST00000392551.2_Silent_p.T457T|GPR155_ENST00000295500.4_Silent_p.T457T	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	457					cognition (GO:0050890)|intracellular signal transduction (GO:0035556)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.T457T(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						TCCACAGGTAGGTGCTATAGA	0.393																																																1	Substitution - coding silent(1)	endometrium(1)											48	51	50					2																	175330526		2203	4300	6503	SO:0001819	synonymous_variant	151556			AY255528	CCDS2259.1, CCDS74605.1	2q31.1	2012-04-10			ENSG00000163328	ENSG00000163328			22951	protein-coding gene	gene with protein product						12679517	Standard	NM_001033045		Approved	DEPDC3, DEP.7, FLJ31819, PGR22	uc002uiu.4	Q7Z3F1	OTTHUMG00000132336	ENST00000392552.2:c.1371C>A	chr2.hg19:g.175330526G>T			B2RCI2|D3DPE2|Q4G0Y6|Q53SJ3|Q53TA8|Q69YG8|Q86SP9|Q8N261|Q8N639|Q8N8K3|Q96MV6	Silent	SNP	ENST00000392552.2	hg19	CCDS2259.1																																																																																				0.393	GPR155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255455.1	NM_152529		T	175330526	G	T	175330526	2	4	768	1	0	0	0	0	0	0	0	1	6662	987	35	4		4	GPR155	2	175330526	Silent	SNP	G	TCGA-MH-A856-01A-11D-A34Z-10	38862778	175330526	67868847	13	45338											
PER2	8864	hgsc.bcm.edu	37	2	239155118	239155118	+	Silent	SNP	T	T	A			TCGA-MH-A856-01A-11D-A34Z-10	TCGA-MH-A856-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	08268f2c-7eb1-4f12-8ef8-7878585d4e39	e6f69dd8-8606-463e-a198-de6007153945	g.chr2:239155118T>A	ENST00000254657.3	-	23	3945	c.3666A>T	c.(3664-3666)ccA>ccT	p.P1222P	PER2_ENST00000254658.3_3'UTR|AC096574.4_ENST00000456601.1_RNA	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	1222	CRY binding domain. {ECO:0000250|UniProtKB:Q9Z301}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		CTTCCTCATATGGTATGCAAA	0.383																																																0													94	81	86					2																	239155118		2203	4300	6503	SO:0001819	synonymous_variant	8864			AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"period (Drosophila) homolog 2", "period homolog 2 (Drosophila)"			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.3666A>T	chr2.hg19:g.239155118T>A			A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Silent	SNP	ENST00000254657.3	hg19	CCDS2528.1																																																																																				0.383	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	NM_022817		A	239155118	T	A	239155118	2	1	768	1	0	0	0	0	0	0	0	1	11732	1451	51	5		5	PER2	2	239155118	Silent	SNP	T	TCGA-MH-A856-01A-11D-A34Z-10	63824592	239155118	4044255	14	45339											
KIF1A	547	hgsc.bcm.edu	37	2	241686666	241686666	+	Missense_Mutation	SNP	T	T	C			TCGA-MH-A856-01A-11D-A34Z-10	TCGA-MH-A856-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	08268f2c-7eb1-4f12-8ef8-7878585d4e39	e6f69dd8-8606-463e-a198-de6007153945	g.chr2:241686666T>C	ENST00000320389.7	-	27	2905	c.2747A>G	c.(2746-2748)cAg>cGg	p.Q916R	KIF1A_ENST00000498729.2_Missense_Mutation_p.Q1017R	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	916					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)		TTCAAAATGCTGGTCATCAAA	0.557																																																0													64	70	68					2																	241686666		1951	4152	6103	SO:0001583	missense	547			AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"Kinesins", "Pleckstrin homology (PH) domain containing"	888	protein-coding gene	gene with protein product		601255	"axonal transport of synaptic vesicles", "chromosome 2 open reading frame 20", "spastic paraplegia 30 (autosomal recessive)"	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.2747A>G	chr2.hg19:g.241686666T>C	ENSP00000322791:p.Gln916Arg		B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	hg19	CCDS46561.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.81|15.81	2.943532|2.943532	0.53079|0.53079	.|.	.|.	ENSG00000130294|ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283|ENST00000415042	T;T;T|.	0.72282|.	-0.64;-0.64;-0.64|.	4.61|4.61	4.61|4.61	0.57282|0.57282	.|.	0.062457|.	0.64402|.	U|.	0.000004|.	T|T	0.54224|0.54224	0.1845|0.1845	L|L	0.34521|0.34521	1.04|1.04	0.43399|0.43399	D|D	0.99552|0.99552	B;B;P|.	0.37122|.	0.01;0.29;0.583|.	B;B;B|.	0.29077|.	0.014;0.098;0.08|.	T|T	0.51419|0.51419	-0.8708|-0.8708	10|5	0.20519|.	T|.	0.43|.	.|.	12.9905|12.9905	0.58616|0.58616	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1017;1017;916|.	F5H045;Q12756-2;Q12756|.	.;.;KIF1A_HUMAN|.	R|G	916;1017;1017;1017|43	ENSP00000322791:Q916R;ENSP00000438388:Q1017R;ENSP00000384231:Q1017R|.	ENSP00000322791:Q916R|.	Q|S	-|-	2|1	0|0	KIF1A|KIF1A	241335339|241335339	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.876000|0.876000	0.50452|0.50452	4.868000|4.868000	0.63021|0.63021	1.728000|1.728000	0.51552|0.51552	0.383000|0.383000	0.25322|0.25322	CAG|AGC		0.557	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		C	241686666	T	C	241686666	3	2	768	1	0	0	0	0	1	0	0	0	8285	1580	55	3	2409	3	KIF1A	2	241686666	Missense_Mutation	SNP	T	TCGA-MH-A856-01A-11D-A34Z-10	2531548	241686666	1512707	15	45340											
SEMA3F	6405	hgsc.bcm.edu	37	3	50222188	50222188	+	Frame_Shift_Del	DEL	T	T	-			TCGA-MH-A856-01A-11D-A34Z-10	TCGA-MH-A856-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	08268f2c-7eb1-4f12-8ef8-7878585d4e39	e6f69dd8-8606-463e-a198-de6007153945	g.chr3:50222188delT	ENST00000002829.3	+	13	1881	c.1397delT	c.(1396-1398)attfs	p.I466fs	SEMA3F_ENST00000434342.1_Frame_Shift_Del_p.I435fs|SEMA3F_ENST00000413852.1_Frame_Shift_Del_p.I367fs	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	466	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				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)		CTTACCACTATTGCCGTGGAC	0.652																																																0													69	58	61					3																	50222188		2203	4299	6502	SO:0001589	frameshift_variant	6405			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.1397delT	chr3.hg19:g.50222188delT	ENSP00000002829:p.Ile466fs		C9JQ85|Q13274|Q13372|Q15704|Q6GTR4	Frame_Shift_Del	DEL	ENST00000002829.3	hg19	CCDS2811.1																																																																																				0.652	SEMA3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345929.1	NM_004186		-	50222188	T	-	50222188	7	5	768	1	0	1	0	1	0	0	0	0	14035	1493	52	0	1443	0	SEMA3F	3	50222188	Frame_Shift_Del	DEL	T	TCGA-MH-A856-01A-11D-A34Z-10		50222188	147800242	16	45341											
CADPS	8618	hgsc.bcm.edu	37	3	62535723	62535723	+	Silent	SNP	G	G	A	rs528317538		TCGA-MH-A856-01A-11D-A34Z-10	TCGA-MH-A856-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	08268f2c-7eb1-4f12-8ef8-7878585d4e39	e6f69dd8-8606-463e-a198-de6007153945	g.chr3:62535723G>A	ENST00000383710.4	-	11	2170	c.1821C>T	c.(1819-1821)gaC>gaT	p.D607D	CADPS_ENST00000357948.3_Silent_p.D607D|CADPS_ENST00000283269.9_Silent_p.D607D	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	607	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)		CTTGTTCATCGTCACTGGCAA	0.552																																																0													166	148	154					3																	62535723		2203	4300	6503	SO:0001819	synonymous_variant	8618			U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"Pleckstrin homology (PH) domain containing"	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.1821C>T	chr3.hg19:g.62535723G>A			A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Silent	SNP	ENST00000383710.4	hg19	CCDS46858.1	.	.	.	.	.	.	.	.	.	.	G	9.080	0.999051	0.19121	.	.	ENSG00000163618	ENST00000478434	.	.	.	4.49	-2.99	0.05497	.	.	.	.	.	T	0.57592	0.2064	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57608	-0.7782	4	.	.	.	.	12.1907	0.54270	0.415:0.0:0.585:0.0	.	.	.	.	M	38	.	.	T	-	2	0	CADPS	62510763	0.985000	0.35326	0.989000	0.46669	0.989000	0.77384	0.352000	0.20113	-0.363000	0.08101	-0.224000	0.12420	ACG		0.552	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		A	62535723	G	A	62535723	2	1	768	1	0	0	0	0	0	0	0	1	2572	1136	40	1		1	CADPS	3	62535723	Silent	SNP	G	TCGA-MH-A856-01A-11D-A34Z-10	12313535	62535723	135486707	17	45342											
EIF4A2	1974	hgsc.bcm.edu	37	3	186504962	186504962	+	Missense_Mutation	SNP	T	T	C	rs34583258		TCGA-MH-A856-01A-11D-A34Z-10	TCGA-MH-A856-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	08268f2c-7eb1-4f12-8ef8-7878585d4e39	e6f69dd8-8606-463e-a198-de6007153945	g.chr3:186504962T>C	ENST00000323963.5	+	8	882	c.818T>C	c.(817-819)aTt>aCt	p.I273T	RP11-573D15.9_ENST00000577781.1_RNA|SNORA4_ENST00000584302.1_RNA|SNORA63_ENST00000363548.1_RNA|SNORD2_ENST00000459163.1_RNA|EIF4A2_ENST00000440191.2_Missense_Mutation_p.I274T|EIF4A2_ENST00000356531.5_Missense_Mutation_p.I178T|SNORA63_ENST00000363450.1_RNA|SNORA81_ENST00000408493.2_RNA			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	273	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		ACACTGACCATTACACAGGCT	0.418			T	BCL6	NHL																																		Dom	yes		3	3q27.3	1974	"eukaryotic translation initiation factor 4A, isoform 2"		L	0													117	117	117					3																	186504962		2203	4300	6503	SO:0001583	missense	1974			D30655	CCDS3282.1	3q28	2012-02-23	2010-02-10		ENSG00000156976	ENSG00000156976	3.6.1.1	"DEAD-boxes"	3284	protein-coding gene	gene with protein product		601102	"eukaryotic translation initiation factor 4A, isoform 2"	EIF4F		8521730	Standard	NM_001967		Approved	DDX2B, EIF4A, BM-010	uc003fqs.3	Q14240	OTTHUMG00000156564	ENST00000323963.5:c.818T>C	chr3.hg19:g.186504962T>C	ENSP00000326381:p.Ile273Thr		D3DNU9|Q53XJ6|Q96B90|Q96EA8	Missense_Mutation	SNP	ENST00000323963.5	hg19	CCDS3282.1	.	.	.	.	.	.	.	.	.	.	T	15.09	2.729313	0.48833	.	.	ENSG00000156976	ENST00000323963;ENST00000440191;ENST00000356531	T;T;T	0.04654	3.58;3.58;3.58	5.12	5.12	0.69794	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.13586	0.0329	L	0.47078	1.49	0.80722	D	1	D;D;P;B	0.61080	0.989;0.978;0.499;0.366	P;P;B;B	0.62560	0.904;0.828;0.159;0.076	T	0.00293	-1.1841	10	0.87932	D	0	-13.5813	13.1874	0.59688	0.0:0.0:0.0:1.0	.	129;178;274;273	B4DJX6;Q9NZE6;Q14240-2;Q14240	.;.;.;IF4A2_HUMAN	T	273;274;178	ENSP00000326381:I273T;ENSP00000398370:I274T;ENSP00000348925:I178T	ENSP00000326381:I273T	I	+	2	0	EIF4A2	187987656	1.000000	0.71417	0.996000	0.52242	0.736000	0.42039	5.699000	0.68310	2.272000	0.75746	0.460000	0.39030	ATT		0.418	EIF4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344609.1	NM_001967		C	186504962	T	C	186504962	3	2	768	1	0	0	0	0	1	0	0	0	5027	1493	52	3	848	3	EIF4A2	3	186504962	Missense_Mutation	SNP	T	TCGA-MH-A856-01A-11D-A34Z-10	123969239	186504962	11517468	18	45343											
LSG1	55341	hgsc.bcm.edu	37	3	194366904	194366904	+	Missense_Mutation	SNP	C	C	G			TCGA-MH-A856-01A-11D-A34Z-10	TCGA-MH-A856-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	08268f2c-7eb1-4f12-8ef8-7878585d4e39	e6f69dd8-8606-463e-a198-de6007153945	g.chr3:194366904C>G	ENST00000265245.5	-	12	1926	c.1612G>C	c.(1612-1614)Gac>Cac	p.D538H	AC046143.3_ENST00000447139.1_RNA	NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	538					GTP catabolic process (GO:0006184)|nuclear export (GO:0051168)|protein transport (GO:0015031)|ribosome biogenesis (GO:0042254)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		CTGACATAGTCCTTCAGGATG	0.448																																																0													217	191	200					3																	194366904		2203	4300	6503	SO:0001583	missense	55341				CCDS33922.1	3q29	2013-08-21	2013-08-21		ENSG00000041802	ENSG00000041802			25652	protein-coding gene	gene with protein product		610780	"large subunit GTPase 1 homolog (S. cerevisiae)"			11230166	Standard	NM_018385		Approved	FLJ11301	uc003fui.3	Q9H089	OTTHUMG00000156021	ENST00000265245.5:c.1612G>C	chr3.hg19:g.194366904C>G	ENSP00000265245:p.Asp538His		A0JLT4|A0PJK3|A6NI18|Q7L9H8|Q9NUK8	Missense_Mutation	SNP	ENST00000265245.5	hg19	CCDS33922.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.0|21.0	4.082680|4.082680	0.76528|0.76528	.|.	.|.	ENSG00000041802|ENSG00000041802	ENST00000265245|ENST00000437613	T|.	0.26810|.	1.71|.	5.58|5.58	5.58|5.58	0.84498|0.84498	GTP-binding protein, orthogonal bundle domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84224|0.84224	0.5425|0.5425	M|M	0.87827|0.87827	2.91|2.91	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.85647|0.85647	0.1280|0.1280	10|5	0.62326|.	D|.	0.03|.	.|.	19.5831|19.5831	0.95478|0.95478	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	538|.	Q9H089|.	LSG1_HUMAN|.	H|S	538|254	ENSP00000265245:D538H|.	ENSP00000265245:D538H|.	D|R	-|-	1|3	0|2	LSG1|LSG1	195848193|195848193	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.451000|0.451000	0.32288|0.32288	7.783000|7.783000	0.85696|0.85696	2.641000|2.641000	0.89580|0.89580	0.563000|0.563000	0.77884|0.77884	GAC|AGG		0.448	LSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342740.1	NM_018385		G	194366904	C	G	194366904	3	3	768	1	0	0	0	0	1	0	0	0	9051	855	30	4	376	4	LSG1	3	194366904	Missense_Mutation	SNP	C	TCGA-MH-A856-01A-11D-A34Z-10	7861942	194366904	3655526	19	45344											
RGS12	6002	hgsc.bcm.edu	37	4	3418678	3418678	+	Missense_Mutation	SNP	T	T	G			TCGA-MH-A856-01A-11D-A34Z-10	TCGA-MH-A856-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	08268f2c-7eb1-4f12-8ef8-7878585d4e39	e6f69dd8-8606-463e-a198-de6007153945	g.chr4:3418678T>G	ENST00000344733.5	+	8	3370	c.2466T>G	c.(2464-2466)ttT>ttG	p.F822L	RGS12_ENST00000543385.1_3'UTR|RGS12_ENST00000382788.3_Missense_Mutation_p.F822L|RGS12_ENST00000338806.4_Missense_Mutation_p.F174L|RGS12_ENST00000538395.1_Missense_Mutation_p.F164L|RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000336727.3_Missense_Mutation_p.F822L|RGS12_ENST00000306648.7_Missense_Mutation_p.F220L	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	822	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				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)		ACACTCGCTTTCTGAAGTCCC	0.587																																																0													79	81	80					4																	3418678		2203	4300	6503	SO:0001583	missense	6002			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.2466T>G	chr4.hg19:g.3418678T>G	ENSP00000339381:p.Phe822Leu		B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	ENST00000344733.5	hg19	CCDS3366.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.249521	0.80024	.	.	ENSG00000159788	ENST00000344733;ENST00000336727;ENST00000382788;ENST00000306648;ENST00000338806;ENST00000538395	T;T;T;T;T;T	0.11495	2.77;2.77;2.77;2.77;2.77;2.77	4.5	-5.97	0.02227	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.000000	0.85682	D	0.000000	T	0.36717	0.0977	H	0.94503	3.545	0.53688	D	0.99997	P;D;D;D;P;D;P;P;P	0.89917	0.947;0.966;1.0;0.966;0.889;0.985;0.947;0.798;0.759	P;P;D;P;P;D;P;P;P	0.97110	0.869;0.785;1.0;0.785;0.841;0.954;0.908;0.847;0.762	T	0.55811	-0.8082	10	0.87932	D	0	-21.6848	13.8554	0.63524	0.0:0.5296:0.0:0.4704	.	164;21;164;21;164;174;220;822;822	B7Z764;B3KVS7;B7Z8B8;A8K440;O14924-2;O14924-3;Q8WX95;O14924;O14924-4	.;.;.;.;.;.;.;RGS12_HUMAN;.	L	822;822;822;220;174;164	ENSP00000339381:F822L;ENSP00000338509:F822L;ENSP00000372238:F822L;ENSP00000304459:F220L;ENSP00000342133:F174L;ENSP00000438888:F164L	ENSP00000304459:F220L	F	+	3	2	RGS12	3388476	0.983000	0.35010	0.632000	0.29296	0.673000	0.39480	0.177000	0.16801	-1.100000	0.03030	-0.315000	0.08773	TTT		0.587	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926		G	3418678	T	G	3418678	3	3	768	1	0	0	0	0	1	0	0	0	13301	1780	62	5	2550	5	RGS12	4	3418678	Missense_Mutation	SNP	T	TCGA-MH-A856-01A-11D-A34Z-10		3418678	187735598	20	45345											
SLC34A2	10568	hgsc.bcm.edu	37	4	25664375	25664375	+	Missense_Mutation	SNP	A	A	T			TCGA-MH-A856-01A-11D-A34Z-10	TCGA-MH-A856-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	08268f2c-7eb1-4f12-8ef8-7878585d4e39	e6f69dd8-8606-463e-a198-de6007153945	g.chr4:25664375A>T	ENST00000382051.3	+	3	211	c.161A>T	c.(160-162)tAc>tTc	p.Y54F	SLC34A2_ENST00000503434.1_Missense_Mutation_p.Y53F|SLC34A2_ENST00000504570.1_Missense_Mutation_p.Y53F	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	54					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)				CTGCCGTCCTACTCCACGGCT	0.517			T	ROS1	NSCLC																																		Dom	yes		4	4p15.2	10568	"solute carrier family 34 (sodium phosphate), member 2"		E	0													138	137	137					4																	25664375		2203	4300	6503	SO:0001583	missense	10568			AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"Solute carriers"	11020	protein-coding gene	gene with protein product		604217	"solute carrier family 34 (sodium phosphate), member 2"			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.161A>T	chr4.hg19:g.25664375A>T	ENSP00000371483:p.Tyr54Phe		A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Missense_Mutation	SNP	ENST00000382051.3	hg19	CCDS3435.1	.	.	.	.	.	.	.	.	.	.	A	11.85	1.760566	0.31137	.	.	ENSG00000157765	ENST00000513204;ENST00000504570;ENST00000382051;ENST00000503434;ENST00000507530	T;T;T;T;T	0.55930	0.49;1.93;1.93;1.93;0.49	5.45	1.6	0.23607	.	0.529195	0.21573	N	0.072361	T	0.40956	0.1138	L	0.56769	1.78	0.09310	N	0.999994	B;B	0.14012	0.007;0.009	B;B	0.13407	0.009;0.004	T	0.25710	-1.0124	10	0.22706	T	0.39	-9.0718	4.4856	0.11788	0.6159:0.0:0.14:0.2441	.	53;54	O95436-2;O95436	.;NPT2B_HUMAN	F	53;53;54;53;54	ENSP00000423038:Y53F;ENSP00000425501:Y53F;ENSP00000371483:Y54F;ENSP00000423021:Y53F;ENSP00000424266:Y54F	ENSP00000371483:Y54F	Y	+	2	0	SLC34A2	25273473	0.137000	0.22531	0.004000	0.12327	0.176000	0.22953	1.990000	0.40717	0.052000	0.16007	0.528000	0.53228	TAC		0.517	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424		T	25664375	A	T	25664375	3	4	768	1	0	0	0	0	1	0	0	0	14574	391	14	5	167	5	SLC34A2	4	25664375	Missense_Mutation	SNP	A	TCGA-MH-A856-01A-11D-A34Z-10	22245697	25664375	165489901	21	45346											
KDR	3791	hgsc.bcm.edu	37	4	55979601	55979601	+	Silent	SNP	C	C	T			TCGA-MH-A856-01A-11D-A34Z-10	TCGA-MH-A856-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	08268f2c-7eb1-4f12-8ef8-7878585d4e39	e6f69dd8-8606-463e-a198-de6007153945	g.chr4:55979601C>T	ENST00000263923.4	-	7	1141	c.846G>A	c.(844-846)ggG>ggA	p.G282G		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	282	Ig-like C2-type 3.				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)	TCATCTCACTCCCAGACTGGG	0.428			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)																													Dom	yes		4	4q11-q12	3791	vascular endothelial growth factor receptor 2		E	0													143	136	138					4																	55979601		2203	4300	6503	SO:0001819	synonymous_variant	3791			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.846G>A	chr4.hg19:g.55979601C>T			A2RRS0|B5A925|C5IFA0|O60723|Q14178	Silent	SNP	ENST00000263923.4	hg19	CCDS3497.1																																																																																				0.428	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			T	55979601	C	T	55979601	2	4	768	1	0	0	0	0	0	0	0	1	8141	842	30	2		2	KDR	4	55979601	Silent	SNP	C	TCGA-MH-A856-01A-11D-A34Z-10	30315226	55979601	135174675	22	45347											
C4orf32	132720	hgsc.bcm.edu	37	4	113066846	113066846	+	Missense_Mutation	SNP	C	C	A			TCGA-MH-A856-01A-11D-A34Z-10	TCGA-MH-A856-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	08268f2c-7eb1-4f12-8ef8-7878585d4e39	e6f69dd8-8606-463e-a198-de6007153945	g.chr4:113066846C>A	ENST00000309733.5	+	1	294	c.110C>A	c.(109-111)gCg>gAg	p.A37E		NM_152400.2	NP_689613.1	Q8N8J7	CD032_HUMAN	chromosome 4 open reading frame 32	37						integral component of membrane (GO:0016021)							Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00198)		gatcccggggcgagcccgcgg	0.831																																																0													2	4	4					4																	113066846		1213	2632	3845	SO:0001583	missense	132720			AK096689	CCDS3695.1	4q25	2008-02-05			ENSG00000174749	ENSG00000174749			26813	protein-coding gene	gene with protein product						12477932	Standard	NM_152400		Approved	FLJ39370	uc003iah.2	Q8N8J7	OTTHUMG00000132851	ENST00000309733.5:c.110C>A	chr4.hg19:g.113066846C>A	ENSP00000310182:p.Ala37Glu		Q49A91|Q4W5C7|Q8TBF9	Missense_Mutation	SNP	ENST00000309733.5	hg19	CCDS3695.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.783857	0.49891	.	.	ENSG00000174749	ENST00000309733	T	0.52526	0.66	3.18	1.33	0.21861	.	0.896444	0.09366	U	0.812075	T	0.36110	0.0955	L	0.44542	1.39	0.27426	N	0.954157	B	0.11235	0.004	B	0.16289	0.015	T	0.33137	-0.9880	10	0.45353	T	0.12	-0.8497	3.6435	0.08176	0.2659:0.5956:0.0:0.1385	.	37	Q8N8J7	CD032_HUMAN	E	37	ENSP00000310182:A37E	ENSP00000310182:A37E	A	+	2	0	C4orf32	113286295	0.732000	0.28121	0.982000	0.44146	0.008000	0.06430	0.121000	0.15667	0.147000	0.19030	0.305000	0.20034	GCG		0.831	C4orf32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256325.2	NM_152400		A	113066846	C	A	113066846	3	1	768	1	0	0	0	0	1	0	0	0	2264	768	27	4	112	4	C4orf32	4	113066846	Missense_Mutation	SNP	C	TCGA-MH-A856-01A-11D-A34Z-10	57087245	113066846	78087430	23	45348											
KIAA1109	84162	hgsc.bcm.edu	37	4	123236769	123236769	+	Missense_Mutation	SNP	G	G	A			TCGA-MH-A856-01A-11D-A34Z-10	TCGA-MH-A856-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	08268f2c-7eb1-4f12-8ef8-7878585d4e39	e6f69dd8-8606-463e-a198-de6007153945	g.chr4:123236769G>A	ENST00000264501.4	+	61	10838	c.10465G>A	c.(10465-10467)Gac>Aac	p.D3489N	KIAA1109_ENST00000455637.1_Missense_Mutation_p.D3489N|KIAA1109_ENST00000388738.3_Missense_Mutation_p.D3489N			Q2LD37	K1109_HUMAN	KIAA1109	3489					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)		p.D3489N(1)		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						TGACATTGCTGACTTAAATTC	0.393																																																1	Substitution - Missense(1)	lung(1)											172	157	162					4																	123236769		1989	4174	6163	SO:0001583	missense	84162			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.10465G>A	chr4.hg19:g.123236769G>A	ENSP00000264501:p.Asp3489Asn		Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	hg19	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	G	35	5.483944	0.96307	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637;ENST00000438707;ENST00000421930	T;T;T;T	0.43294	2.43;2.43;1.84;0.95	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.60637	0.2284	L	0.51422	1.61	0.80722	D	1	D;D	0.67145	0.996;0.993	D;D	0.79784	0.993;0.984	T	0.57124	-0.7865	10	0.42905	T	0.14	.	19.379	0.94523	0.0:0.0:1.0:0.0	.	3489;3489	Q2LD37-6;Q2LD37	.;K1109_HUMAN	N	3489;3489;3489;105;63	ENSP00000264501:D3489N;ENSP00000373390:D3489N;ENSP00000389925:D3489N;ENSP00000410874:D105N	ENSP00000264501:D3489N	D	+	1	0	KIAA1109	123456219	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.787000	0.99055	2.653000	0.90120	0.650000	0.86243	GAC		0.393	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		A	123236769	G	A	123236769	3	1	768	1	0	0	0	0	1	0	0	0	8210	1290	45	2	10699	2	KIAA1109	4	123236769	Missense_Mutation	SNP	G	TCGA-MH-A856-01A-11D-A34Z-10	10169923	123236769	67917507	24	45349											
PHF17	79960	hgsc.bcm.edu	37	4	129793111	129793111	+	Silent	SNP	T	T	A			TCGA-MH-A856-01A-11D-A34Z-10	TCGA-MH-A856-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	08268f2c-7eb1-4f12-8ef8-7878585d4e39	e6f69dd8-8606-463e-a198-de6007153945	g.chr4:129793111T>A	ENST00000226319.6	+	11	2503	c.2223T>A	c.(2221-2223)ccT>ccA	p.P741P	PHF17_ENST00000512960.1_Silent_p.P741P|PHF17_ENST00000452328.2_Silent_p.P729P	NM_199320.2	NP_955352.1														NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CTACAACACCTGCCAGCCCAG	0.547																																																0													34	38	36					4																	129793111		2203	4299	6502	SO:0001819	synonymous_variant	79960																														ENST00000226319.6:c.2223T>A	chr4.hg19:g.129793111T>A				Silent	SNP	ENST00000226319.6	hg19	CCDS34062.1																																																																																				0.547	PHF17-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364280.1			A	129793111	T	A	129793111	2	1	768	1	0	0	0	0	0	0	0	1	11830	1567	55	5		5	PHF17	4	129793111	Silent	SNP	T	TCGA-MH-A856-01A-11D-A34Z-10	6556342	129793111	61361165	25	45350											
TARS	6897	hgsc.bcm.edu	37	5	33441209	33441209	+	Missense_Mutation	SNP	C	C	A			TCGA-MH-A856-01A-11D-A34Z-10	TCGA-MH-A856-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	08268f2c-7eb1-4f12-8ef8-7878585d4e39	e6f69dd8-8606-463e-a198-de6007153945	g.chr5:33441209C>A	ENST00000265112.3	+	1	328	c.17C>A	c.(16-18)gCc>gAc	p.A6D	TARS_ENST00000455217.2_Missense_Mutation_p.A6D|CTD-2203K17.1_ENST00000507251.1_RNA|TARS_ENST00000414361.2_5'UTR|TARS_ENST00000541634.1_5'UTR|TARS_ENST00000502553.1_Missense_Mutation_p.A6D	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	6					gene expression (GO:0010467)|threonyl-tRNA aminoacylation (GO:0006435)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|threonine-tRNA ligase activity (GO:0004829)			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	GAGGAGAAGGCCAGCAGTCCT	0.612																																																0													86	74	78					5																	33441209		2203	4300	6503	SO:0001583	missense	6897			AK095852	CCDS3899.1, CCDS58943.1	5p13.2	2012-10-02			ENSG00000113407	ENSG00000113407	6.1.1.3	"Aminoacyl tRNA synthetases / Class II"	11572	protein-coding gene	gene with protein product	"threonine tRNA ligase 1, cytoplasmic"	187790					Standard	NM_152295		Approved		uc011coc.3	P26639	OTTHUMG00000090683	ENST00000265112.3:c.17C>A	chr5.hg19:g.33441209C>A	ENSP00000265112:p.Ala6Asp		A8K8I1|B4DEG8|Q96FP5|Q9BWA6	Missense_Mutation	SNP	ENST00000265112.3	hg19	CCDS3899.1	.	.	.	.	.	.	.	.	.	.	C	13.52	2.262597	0.39995	.	.	ENSG00000113407	ENST00000502553;ENST00000514259;ENST00000265112;ENST00000455217	T;T;T;T	0.48836	0.9;0.8;0.9;0.81	4.74	0.646	0.17789	.	0.527644	0.20999	N	0.081888	T	0.23370	0.0565	N	0.16478	0.41	0.21020	N	0.999804	B	0.24721	0.11	B	0.22386	0.039	T	0.08932	-1.0698	10	0.27082	T	0.32	-7.084	2.7791	0.05356	0.3274:0.4217:0.1591:0.0918	.	6	P26639	SYTC_HUMAN	D	6	ENSP00000424387:A6D;ENSP00000422130:A6D;ENSP00000265112:A6D;ENSP00000387710:A6D	ENSP00000265112:A6D	A	+	2	0	TARS	33476966	0.001000	0.12720	0.003000	0.11579	0.663000	0.39108	-0.265000	0.08644	-0.003000	0.14444	0.591000	0.81541	GCC		0.612	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207367.1	NM_152295		A	33441209	C	A	33441209	3	1	768	1	0	0	0	0	1	0	0	0	15564	739	26	4	19	4	TARS	5	33441209	Missense_Mutation	SNP	C	TCGA-MH-A856-01A-11D-A34Z-10		33441209	147474051	26	45351											
MOCS2	4338	hgsc.bcm.edu	37	5	52396318	52396318	+	Frame_Shift_Del	DEL	C	C	-			TCGA-MH-A856-01A-11D-A34Z-10	TCGA-MH-A856-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	08268f2c-7eb1-4f12-8ef8-7878585d4e39	e6f69dd8-8606-463e-a198-de6007153945	g.chr5:52396318delC	ENST00000396954.3	-	6	1101	c.424delG	c.(424-426)gccfs	p.A142fs	MOCS2_ENST00000361377.4_3'UTR|MOCS2_ENST00000510818.2_Splice_Site|MOCS2_ENST00000582677.1_3'UTR|MOCS2_ENST00000527216.1_3'UTR|MOCS2_ENST00000508922.1_Intron|MOCS2_ENST00000584946.1_3'UTR|MOCS2_ENST00000450852.3_3'UTR	NM_004531.3	NP_004522.1			molybdenum cofactor synthesis 2											endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				GCTCTGTGGGCTGAGGACACA	0.393																																																0													80	80	80					5																	52396318		2203	4300	6503	SO:0001589	frameshift_variant	4338			AF117815	CCDS3958.1, CCDS47205.1	5q11	2008-02-05			ENSG00000164172	ENSG00000164172			7193	protein-coding gene	gene with protein product		603708				10053004, 9889283	Standard	NM_004531		Approved	MOCO1	uc003joz.3	O96007	OTTHUMG00000096981	ENST00000396954.3:c.424delG	chr5.hg19:g.52396318delC	ENSP00000380157:p.Ala142fs			Frame_Shift_Del	DEL	ENST00000396954.3	hg19	CCDS3958.1																																																																																				0.393	MOCS2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214053.3	NM_183418		-	52396318	C	-	52396318	7	5	768	1	0	1	0	1	0	0	0	0	9693	797	28	0	150	0	MOCS2	5	52396318	Frame_Shift_Del	DEL	C	TCGA-MH-A856-01A-11D-A34Z-10	18955109	52396318	128518942	27	45352											
EPB41L4A	64097	hgsc.bcm.edu	37	5	111594984	111594984	+	Missense_Mutation	SNP	C	C	T	rs539290653		TCGA-MH-A856-01A-11D-A34Z-10	TCGA-MH-A856-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	08268f2c-7eb1-4f12-8ef8-7878585d4e39	e6f69dd8-8606-463e-a198-de6007153945	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															3	Substitution - Missense(3)	lung(2)|haematopoietic_and_lymphoid_tissue(1)											148	130	136					5																	111594984		1807	4092	5899	SO:0001583	missense	64097			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	chr5.hg19:g.111594984C>T	ENSP00000261486:p.Arg246Gln		A4FUI6	Missense_Mutation	SNP	ENST00000261486.5	hg19	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			T	111594984	C	T	111594984	3	4	768	1	0	0	0	0	1	0	0	0	5157	652	23	1	1383	1	EPB41L4A	5	111594984	Missense_Mutation	SNP	C	TCGA-MH-A856-01A-11D-A34Z-10	59198666	111594984	69320276	28	45353											
TRIM31	11074	hgsc.bcm.edu	37	6	30072974	30072974	+	Missense_Mutation	SNP	T	T	A			TCGA-MH-A856-01A-11D-A34Z-10	TCGA-MH-A856-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	08268f2c-7eb1-4f12-8ef8-7878585d4e39	e6f69dd8-8606-463e-a198-de6007153945	g.chr6:30072974T>A	ENST00000376734.3	-	7	1054	c.929A>T	c.(928-930)aAa>aTa	p.K310I	TRIM31_ENST00000485864.1_5'UTR|TRIM31-AS1_ENST00000440874.1_RNA|TRIM31_ENST00000540829.1_Missense_Mutation_p.K310I	NM_007028.3	NP_008959.3	Q9BZY9	TRI31_HUMAN	tripartite motif containing 31	310					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral release from host cell (GO:1902186)	mitochondrion (GO:0005739)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						ATTCATGCTTTTGAAGAATCT	0.413																																																0													181	181	181					6																	30072974		1511	2709	4220	SO:0001583	missense	11074			AF230386	CCDS34374.1	6p21.3	2013-01-09	2011-01-25		ENSG00000204616	ENSG00000204616		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16289	protein-coding gene	gene with protein product		609316	"tripartite motif-containing 31"			11331580	Standard	XM_006714977		Approved	RNF, HCGI, C6orf13, HCG1	uc003npg.1	Q9BZY9	OTTHUMG00000031064	ENST00000376734.3:c.929A>T	chr6.hg19:g.30072974T>A	ENSP00000365924:p.Lys310Ile		A6NLX6|A9R9Q4|Q53H52|Q5RI37|Q5SRJ7|Q5SRJ8|Q5SS28|Q96AK4|Q96AP8|Q99579|Q9BZY8	Missense_Mutation	SNP	ENST00000376734.3	hg19	CCDS34374.1	.	.	.	.	.	.	.	.	.	.	T	12.66	2.004393	0.35320	.	.	ENSG00000204616	ENST00000376734;ENST00000376728;ENST00000540829	T;T	0.68331	-0.32;-0.32	4.05	-2.76	0.05896	.	.	.	.	.	T	0.19685	0.0473	N	0.14661	0.345	0.09310	N	1	P	0.46020	0.871	B	0.39935	0.314	T	0.14839	-1.0458	9	0.18710	T	0.47	.	5.621	0.17457	0.0:0.492:0.1825:0.3254	.	310	Q9BZY9	TRI31_HUMAN	I	310	ENSP00000365924:K310I;ENSP00000444311:K310I	ENSP00000365918:K310I	K	-	2	0	TRIM31	30180953	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.376000	0.07465	-0.375000	0.07955	-0.517000	0.04412	AAA		0.413	TRIM31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076081.2			A	30072974	T	A	30072974	3	1	768	1	0	0	0	0	1	0	0	0	16510	1841	64	5	360	5	TRIM31	6	30072974	Missense_Mutation	SNP	T	TCGA-MH-A856-01A-11D-A34Z-10		30072974	141042093	29	45354											
COL11A2	1302	hgsc.bcm.edu	37	6	33137181	33137181	+	Missense_Mutation	SNP	A	A	T			TCGA-MH-A856-01A-11D-A34Z-10	TCGA-MH-A856-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	08268f2c-7eb1-4f12-8ef8-7878585d4e39	e6f69dd8-8606-463e-a198-de6007153945	g.chr6:33137181A>T	ENST00000374708.4	-	49	3777	c.3519T>A	c.(3517-3519)gaT>gaA	p.D1173E	COL11A2_ENST00000374712.1_Missense_Mutation_p.D1178E|COL11A2_ENST00000361917.1_Missense_Mutation_p.D1152E|COL11A2_ENST00000374713.1_Missense_Mutation_p.D1212E|COL11A2_ENST00000357486.1_Missense_Mutation_p.D1238E|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000395197.1_Missense_Mutation_p.D1199E|COL11A2_ENST00000341947.2_Missense_Mutation_p.D1259E|COL11A2_ENST00000374714.1_Missense_Mutation_p.D1233E	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1259	Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						TGGGGCCATCATCGCCTGTGG	0.627																																					Melanoma(1;90 116 3946 5341 17093)											0													47	42	44					6																	33137181		1510	2707	4217	SO:0001583	missense	1302			U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"Collagens"	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.3519T>A	chr6.hg19:g.33137181A>T	ENSP00000363840:p.Asp1173Glu		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000374708.4	hg19	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	A	10.24	1.295457	0.23564	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917	D;D;D;D;D;D;D;D	0.94138	-3.36;-3.23;-3.23;-3.23;-3.36;-3.36;-3.36;-3.36	4.88	-5.47	0.02600	.	0.000000	0.85682	D	0.000000	D	0.84665	0.5522	N	0.05230	-0.09	0.48762	D	0.999704	D;D;D	0.61697	0.99;0.99;0.984	D;D;D	0.75484	0.986;0.986;0.967	D	0.84632	0.0690	10	0.23891	T	0.37	.	13.4632	0.61239	0.4166:0.0:0.5834:0.0	.	1152;1173;1259	P13942-8;P13942-6;P13942	.;.;COBA2_HUMAN	E	1173;1259;1238;1233;1212;1199;1178;1152	ENSP00000363840:D1173E;ENSP00000339915:D1259E;ENSP00000350079:D1238E;ENSP00000363846:D1233E;ENSP00000363845:D1212E;ENSP00000378623:D1199E;ENSP00000363844:D1178E;ENSP00000355123:D1152E	ENSP00000339915:D1259E	D	-	3	2	COL11A2	33245159	0.628000	0.27138	0.139000	0.22197	0.512000	0.34134	-0.096000	0.11059	-1.298000	0.02348	-0.398000	0.06409	GAT		0.627	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			T	33137181	A	T	33137181	3	4	768	1	0	0	0	0	1	0	0	0	3670	214	8	5	1497	5	COL11A2	6	33137181	Missense_Mutation	SNP	A	TCGA-MH-A856-01A-11D-A34Z-10	3064207	33137181	137977886	30	45355											
FOXP4	116113	hgsc.bcm.edu	37	6	41553179	41553179	+	Missense_Mutation	SNP	A	A	G			TCGA-MH-A856-01A-11D-A34Z-10	TCGA-MH-A856-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	08268f2c-7eb1-4f12-8ef8-7878585d4e39	e6f69dd8-8606-463e-a198-de6007153945	g.chr6:41553179A>G	ENST00000307972.4	+	4	446	c.434A>G	c.(433-435)tAc>tGc	p.Y145C	FOXP4_ENST00000373057.3_Missense_Mutation_p.Y143C|FOXP4_ENST00000373063.3_Missense_Mutation_p.Y145C|FOXP4_ENST00000373060.1_Missense_Mutation_p.Y145C|FOXP4_ENST00000409208.1_Missense_Mutation_p.Y145C			Q8IVH2	FOXP4_HUMAN	forkhead box P4	145	Gln-rich.				embryonic foregut morphogenesis (GO:0048617)|heart development (GO:0007507)|lung secretory cell differentiation (GO:0061140)|negative regulation of lung goblet cell differentiation (GO:1901250)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					CTACAGGAGTACTACAAGAAG	0.637																																																0													58	50	53					6																	41553179		2203	4300	6503	SO:0001583	missense	116113			AB080747	CCDS4856.1, CCDS34447.1, CCDS34448.1	6p21.1	2008-02-05			ENSG00000137166	ENSG00000137166		"Forkhead boxes"	20842	protein-coding gene	gene with protein product		608924					Standard	XM_006714991		Approved	FLJ40908	uc003oql.3	Q8IVH2	OTTHUMG00000014679	ENST00000307972.4:c.434A>G	chr6.hg19:g.41553179A>G	ENSP00000309823:p.Tyr145Cys		Q5W098|Q7Z7F8|Q8IW55|Q96E19	Missense_Mutation	SNP	ENST00000307972.4	hg19	CCDS34447.1	.	.	.	.	.	.	.	.	.	.	A	17.48	3.401051	0.62288	.	.	ENSG00000137166	ENST00000373060;ENST00000373063;ENST00000409208;ENST00000373057;ENST00000307972	T;D;T;T;T	0.90620	1.32;-2.7;1.32;1.32;1.32	4.94	4.94	0.65067	.	0.000000	0.64402	D	0.000001	D	0.89462	0.6722	L	0.57536	1.79	0.47308	D	0.999388	D;D;D	0.67145	0.996;0.996;0.996	P;P;P	0.54372	0.75;0.75;0.75	D	0.90770	0.4671	10	0.72032	D	0.01	.	11.009	0.47652	0.8606:0.0:0.0:0.1394	.	145;143;145	Q8IW55;Q7Z7F8;Q8IVH2	.;.;FOXP4_HUMAN	C	145;145;145;143;145	ENSP00000362151:Y145C;ENSP00000362154:Y145C;ENSP00000386958:Y145C;ENSP00000362148:Y143C;ENSP00000309823:Y145C	ENSP00000309823:Y145C	Y	+	2	0	FOXP4	41661157	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	2.189000	0.42621	1.856000	0.53863	0.454000	0.30748	TAC		0.637	FOXP4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000106767.1	NM_138457		G	41553179	A	G	41553179	3	3	768	1	0	0	0	0	1	0	0	0	6031	391	14	3	448	3	FOXP4	6	41553179	Missense_Mutation	SNP	A	TCGA-MH-A856-01A-11D-A34Z-10	8415998	41553179	129561888	31	45356											
XPO5	57510	hgsc.bcm.edu	37	6	43499248	43499248	+	Missense_Mutation	SNP	G	G	T			TCGA-MH-A856-01A-11D-A34Z-10	TCGA-MH-A856-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	08268f2c-7eb1-4f12-8ef8-7878585d4e39	e6f69dd8-8606-463e-a198-de6007153945	g.chr6:43499248G>T	ENST00000265351.7	-	22	2719	c.2509C>A	c.(2509-2511)Cag>Aag	p.Q837K		NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	837					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)			AAGAAACGCTGCATTCTTTCC	0.433																																																0													137	127	130					6																	43499248		1895	4125	6020	SO:0001583	missense	57510			AB033117	CCDS47430.1	6p21.1	2011-04-13			ENSG00000124571	ENSG00000124571		"Exportins"	17675	protein-coding gene	gene with protein product		607845				11777942, 12426392	Standard	NM_020750		Approved	KIAA1291	uc003ovp.3	Q9HAV4	OTTHUMG00000014742	ENST00000265351.7:c.2509C>A	chr6.hg19:g.43499248G>T	ENSP00000265351:p.Gln837Lys		Q5JTE6|Q96G48|Q96HN3|Q9BWM6|Q9BZV5|Q9H9M4|Q9NT89|Q9NW39|Q9ULC9	Missense_Mutation	SNP	ENST00000265351.7	hg19	CCDS47430.1	.	.	.	.	.	.	.	.	.	.	G	32	5.191726	0.94923	.	.	ENSG00000124571	ENST00000265351;ENST00000436943;ENST00000372258;ENST00000439465	T	0.66099	-0.19	5.61	5.61	0.85477	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.72137	0.3423	M	0.64567	1.98	0.80722	D	1	D	0.69078	0.997	D	0.73380	0.98	T	0.68652	-0.5352	10	0.39692	T	0.17	-16.0687	18.182	0.89781	0.0:0.0:1.0:0.0	.	837	Q9HAV4	XPO5_HUMAN	K	837;542;377;465	ENSP00000265351:Q837K	ENSP00000265351:Q837K	Q	-	1	0	XPO5	43607226	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.420000	0.97426	2.793000	0.96121	0.655000	0.94253	CAG		0.433	XPO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040657.2	NM_020750		T	43499248	G	T	43499248	3	4	768	1	0	0	0	0	1	0	0	0	17452	1328	46	4	1149	4	XPO5	6	43499248	Missense_Mutation	SNP	G	TCGA-MH-A856-01A-11D-A34Z-10	1946069	43499248	127615819	32	45357											
ARG1	383	hgsc.bcm.edu	37	6	131903762	131903762	+	Splice_Site	DEL	T	T	-	rs200319835		TCGA-MH-A856-01A-11D-A34Z-10	TCGA-MH-A856-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	08268f2c-7eb1-4f12-8ef8-7878585d4e39	e6f69dd8-8606-463e-a198-de6007153945	g.chr6:131903762delT	ENST00000368087.3	+	5	606	c.467delT	c.(466-468)att>at	p.I156fs	MED23_ENST00000354577.4_Intron|ARG1_ENST00000356962.2_Splice_Site_p.I164fs			P05089	ARGI1_HUMAN	arginase 1	156					arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to glucagon stimulus (GO:0071377)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-4 (GO:0071353)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|liver development (GO:0001889)|lung development (GO:0030324)|mammary gland involution (GO:0060056)|maternal process involved in female pregnancy (GO:0060135)|positive regulation of endothelial cell proliferation (GO:0001938)|protein homotrimerization (GO:0070207)|regulation of L-arginine import (GO:0010963)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to herbicide (GO:0009635)|response to manganese ion (GO:0010042)|response to methylmercury (GO:0051597)|response to selenium ion (GO:0010269)|response to vitamin A (GO:0033189)|response to vitamin E (GO:0033197)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	arginase activity (GO:0004053)|manganese ion binding (GO:0030145)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|skin(3)	14	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0106)|OV - Ovarian serous cystadenocarcinoma(155;0.0713)	L-Ornithine(DB00129)	TAATTTTAGATTCCCGATGTG	0.393																																																0													127	121	123					6																	131903762		2203	4300	6503	SO:0001630	splice_region_variant	383				CCDS5145.1, CCDS59038.1	6q23	2013-05-01	2013-05-01		ENSG00000118520	ENSG00000118520	3.5.3.1		663	protein-coding gene	gene with protein product		608313	"arginase, liver"			22959135	Standard	NM_000045		Approved		uc003qcp.2	P05089	OTTHUMG00000015566	ENST00000368087.3:c.466-1T>-	chr6.hg19:g.131903762delT			A6NEA0|Q5JWT5|Q5JWT6|Q8TE72|Q9BS50	Frame_Shift_Del	DEL	ENST00000368087.3	hg19	CCDS5145.1																																																																																				0.393	ARG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042223.1		Frame_Shift_Del	-	131903762	T	-	131903762	8	5	768	1	0	1	0	1	0	0	1	0	857	1507	52	0	485	0	ARG1	6	131903762	Splice_Site	DEL	T	TCGA-MH-A856-01A-11D-A34Z-10	88404514	131903762	39211305	33	45358											
HNRNPA2B1	3181	hgsc.bcm.edu	37	7	26235474	26235474	+	Silent	SNP	T	T	C			TCGA-MH-A856-01A-11D-A34Z-10	TCGA-MH-A856-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	08268f2c-7eb1-4f12-8ef8-7878585d4e39	e6f69dd8-8606-463e-a198-de6007153945	g.chr7:26235474T>C	ENST00000354667.4	-	8	918	c.750A>G	c.(748-750)ggA>ggG	p.G250G	HNRNPA2B1_ENST00000356674.7_Silent_p.G238G	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	250	Gly-rich.				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 transcription from RNA polymerase II promoter (GO:0000122)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|RNA binding (GO:0003723)|single-stranded telomeric DNA binding (GO:0043047)		HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						GACCTCCAGGTCCTCCTCCAT	0.358			T	ETV1	prostate																																		Dom	yes		7	7p15	3181	heterogeneous nuclear ribonucleoprotein A2/B1		E	0													113	99	104					7																	26235474		2203	4300	6503	SO:0001819	synonymous_variant	3181			D28877	CCDS5397.1, CCDS43557.1	7p15	2013-02-12		2007-08-16	ENSG00000122566	ENSG00000122566		"RNA binding motif (RRM) containing"	5033	protein-coding gene	gene with protein product		600124		HNRPA2B1		8029005	Standard	NM_002137		Approved		uc003sxr.4	P22626	OTTHUMG00000023471	ENST00000354667.4:c.750A>G	chr7.hg19:g.26235474T>C			A8K064|P22627|Q9UC98|Q9UDJ2	Silent	SNP	ENST00000354667.4	hg19	CCDS43557.1	.	.	.	.	.	.	.	.	.	.	T	9.789	1.177349	0.21787	.	.	ENSG00000122566	ENST00000409814	.	.	.	5.93	0.584	0.17422	.	.	.	.	.	T	0.42404	0.1201	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.20907	-1.0261	4	.	.	.	.	1.8406	0.03149	0.1924:0.1811:0.0996:0.5269	.	.	.	.	G	184	.	.	D	-	2	0	HNRNPA2B1	26201999	0.999000	0.42202	0.998000	0.56505	0.941000	0.58515	0.264000	0.18497	-0.088000	0.12506	-2.424000	0.00217	GAC		0.358	HNRNPA2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214109.1	NM_002137		C	26235474	T	C	26235474	2	2	768	1	0	0	0	0	0	0	0	1	7261	1654	58	3		3	HNRNPA2B1	7	26235474	Silent	SNP	T	TCGA-MH-A856-01A-11D-A34Z-10		26235474	132903189	34	45359											
CACNA2D1	781	hgsc.bcm.edu	37	7	82072743	82072744	+	Frame_Shift_Ins	INS	-	-	A			TCGA-MH-A856-01A-11D-A34Z-10	TCGA-MH-A856-10A-01D-A34Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	08268f2c-7eb1-4f12-8ef8-7878585d4e39	e6f69dd8-8606-463e-a198-de6007153945	g.chr7:82072743_82072744insA	ENST00000356253.5	-	1	287_288	c.32_33insT	c.(31-33)ctgfs	p.L11fs	CACNA2D1_ENST00000356860.3_Frame_Shift_Ins_p.L11fs|CACNA2D1_ENST00000423588.1_Frame_Shift_Ins_p.L11fs			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	11					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)	GGAAAAGTGTCAGAGTCAAGGC	0.673																																																0																																										SO:0001589	frameshift_variant	781			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.33dupT	chr7.hg19:g.82072744_82072744dupA	ENSP00000348589:p.Leu11fs		Q17R45|Q9UD80|Q9UD81|Q9UD82	Frame_Shift_Ins	INS	ENST00000356253.5	hg19																																																																																					0.673	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				A	82072744	-	A	82072743	7	5	768	1	0	1	1	0	0	0	0	0	2550	813	29	0	3398	0	CACNA2D1	7	82072743	Frame_Shift_Ins	INS	-	TCGA-MH-A856-01A-11D-A34Z-10	55837269	82072743	77065920	35	45360											
DMTF1	9988	hgsc.bcm.edu	37	7	86820330	86820330	+	Missense_Mutation	SNP	T	T	G			TCGA-MH-A856-01A-11D-A34Z-10	TCGA-MH-A856-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	08268f2c-7eb1-4f12-8ef8-7878585d4e39	e6f69dd8-8606-463e-a198-de6007153945	g.chr7:86820330T>G	ENST00000394703.5	+	16	2044	c.1481T>G	c.(1480-1482)tTt>tGt	p.F494C	DMTF1_ENST00000331242.7_Missense_Mutation_p.F494C|DMTF1_ENST00000432937.2_Missense_Mutation_p.F406C|DMTF1_ENST00000413276.2_Missense_Mutation_p.F424C|DMTF1_ENST00000414194.2_Missense_Mutation_p.F228C	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	494	Interaction with CCND1, CCND2 and CCND3. {ECO:0000250}.|Required for transcriptional activation. {ECO:0000250}.				cell cycle (GO:0007049)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					CTACAGACATTTGAGATTCTT	0.388																																																0													173	135	148					7																	86820330		2203	4300	6503	SO:0001583	missense	9988			AF084530	CCDS5601.1, CCDS47633.1	7q21	2014-06-25			ENSG00000135164	ENSG00000135164			14603	protein-coding gene	gene with protein product	"cyclin D-binding Myb-like protein"	608491				10095122, 24958102	Standard	NR_024549		Approved	DMP1, DMTF, hDMP1, MRUL	uc003uih.3	Q9Y222	OTTHUMG00000154135	ENST00000394703.5:c.1481T>G	chr7.hg19:g.86820330T>G	ENSP00000378193:p.Phe494Cys		B2RBE1|B4DJS5|Q05C48|Q59G79|Q6IS13|Q969T2|Q9H2Z2|Q9H2Z3	Missense_Mutation	SNP	ENST00000394703.5	hg19	CCDS5601.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.630090	0.87660	.	.	ENSG00000135164	ENST00000331242;ENST00000413276;ENST00000432937;ENST00000394703;ENST00000414194	T;T;T;T;T	0.65364	-0.15;0.15;-0.09;-0.15;-0.15	5.74	5.74	0.90152	.	0.125440	0.64402	D	0.000001	T	0.66915	0.2838	N	0.24115	0.695	0.58432	D	0.999997	D	0.76494	0.999	D	0.70716	0.97	T	0.67337	-0.5696	10	0.38643	T	0.18	-13.4366	15.2105	0.73219	0.0:0.0:0.0:1.0	.	494	Q9Y222	DMTF1_HUMAN	C	494;424;406;494;228	ENSP00000332171:F494C;ENSP00000402627:F424C;ENSP00000412532:F406C;ENSP00000378193:F494C;ENSP00000415910:F228C	ENSP00000332171:F494C	F	+	2	0	DMTF1	86658266	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.407000	0.80029	2.185000	0.69588	0.455000	0.32223	TTT		0.388	DMTF1-002	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334025.5	NM_021145		G	86820330	T	G	86820330	3	3	768	1	0	0	0	0	1	0	0	0	4594	1841	64	5	1527	5	DMTF1	7	86820330	Missense_Mutation	SNP	T	TCGA-MH-A856-01A-11D-A34Z-10	4747587	86820330	72318333	36	45361											
TMEM213	155006	hgsc.bcm.edu	37	7	138486107	138486107	+	Missense_Mutation	SNP	C	C	A			TCGA-MH-A856-01A-11D-A34Z-10	TCGA-MH-A856-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	08268f2c-7eb1-4f12-8ef8-7878585d4e39	e6f69dd8-8606-463e-a198-de6007153945	g.chr7:138486107C>A	ENST00000442682.2	+	2	271	c.118C>A	c.(118-120)Cac>Aac	p.H40N	TMEM213_ENST00000458494.1_Intron|TMEM213_ENST00000413208.1_Missense_Mutation_p.H40N|TMEM213_ENST00000422794.2_Missense_Mutation_p.H90N|TMEM213_ENST00000397602.3_Missense_Mutation_p.H39N	NM_001085429.1	NP_001078898.1	A2RRL7	TM213_HUMAN	transmembrane protein 213	40						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(1)|lung(1)	6						CTTGACCGCTCACCACCCAGA	0.537																																																0													38	44	42					7																	138486107		1966	4157	6123	SO:0001583	missense	155006				CCDS47722.1	7q34	2008-08-08			ENSG00000214128	ENSG00000214128			27220	protein-coding gene	gene with protein product							Standard	NM_001085429		Approved		uc010lna.3	A2RRL7	OTTHUMG00000157182	ENST00000442682.2:c.118C>A	chr7.hg19:g.138486107C>A	ENSP00000390407:p.His40Asn		A4D1R3|C9JH49|C9JX41|C9K0P0	Missense_Mutation	SNP	ENST00000442682.2	hg19	CCDS47722.1	.	.	.	.	.	.	.	.	.	.	C	6.873	0.530421	0.13127	.	.	ENSG00000214128	ENST00000422794;ENST00000397602;ENST00000442682;ENST00000413208	.	.	.	5.33	5.33	0.75918	.	0.227351	0.21672	U	0.070852	T	0.38532	0.1044	L	0.34521	1.04	0.09310	N	0.999999	P;P	0.36535	0.557;0.557	B;B	0.41988	0.372;0.372	T	0.28004	-1.0057	9	0.30854	T	0.27	-30.7942	14.8724	0.70468	0.0:1.0:0.0:0.0	.	39;40	A2RRL7-3;A2RRL7	.;TM213_HUMAN	N	90;39;40;40	.	ENSP00000380727:H39N	H	+	1	0	TMEM213	138136647	0.005000	0.15991	0.294000	0.24946	0.007000	0.05969	1.234000	0.32660	2.636000	0.89361	0.655000	0.94253	CAC		0.537	TMEM213-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347800.2	NM_001085429		A	138486107	C	A	138486107	3	1	768	1	0	0	0	0	1	0	0	0	16141	826	29	4	124	4	TMEM213	7	138486107	Missense_Mutation	SNP	C	TCGA-MH-A856-01A-11D-A34Z-10	51665777	138486107	20652556	37	45362											
ADCK2	90956	hgsc.bcm.edu	37	7	140374550	140374550	+	Missense_Mutation	SNP	T	T	C			TCGA-MH-A856-01A-11D-A34Z-10	TCGA-MH-A856-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	08268f2c-7eb1-4f12-8ef8-7878585d4e39	e6f69dd8-8606-463e-a198-de6007153945	g.chr7:140374550T>C	ENST00000072869.4	+	2	1251	c.1073T>C	c.(1072-1074)gTc>gCc	p.V358A	ADCK2_ENST00000476491.1_Missense_Mutation_p.V358A	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	358	Protein kinase.					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)					AAGCTGATGGTCCAACAGGTG	0.458																																																0													122	105	110					7																	140374550		2203	4300	6503	SO:0001583	missense	90956			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.1073T>C	chr7.hg19:g.140374550T>C	ENSP00000072869:p.Val358Ala		Q96CN6|Q9Y6T5	Missense_Mutation	SNP	ENST00000072869.4	hg19	CCDS5861.1	.	.	.	.	.	.	.	.	.	.	T	11.45	1.641354	0.29157	.	.	ENSG00000133597	ENST00000072869;ENST00000476491	T;T	0.53640	0.61;0.61	5.35	4.21	0.49690	ABC-1 (1);	0.566619	0.18600	N	0.136484	T	0.31389	0.0795	L	0.31157	0.91	0.30831	N	0.736681	B;B	0.31153	0.129;0.31	B;B	0.30251	0.113;0.113	T	0.26395	-1.0104	10	0.15499	T	0.54	-42.3317	8.4754	0.33009	0.0:0.1506:0.0:0.8494	.	358;358	C9JE15;Q7Z695	.;ADCK2_HUMAN	A	358	ENSP00000072869:V358A;ENSP00000420512:V358A	ENSP00000072869:V358A	V	+	2	0	ADCK2	140021019	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	2.242000	0.43106	0.983000	0.38602	0.533000	0.62120	GTC		0.458	ADCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348734.1	NM_052853		C	140374550	T	C	140374550	3	2	768	1	0	0	0	0	1	0	0	0	289	1667	58	3	1079	3	ADCK2	7	140374550	Missense_Mutation	SNP	T	TCGA-MH-A856-01A-11D-A34Z-10	1888443	140374550	18764113	38	45363											
DDHD2	23259	hgsc.bcm.edu	37	8	38092031	38092031	+	Missense_Mutation	SNP	A	A	G			TCGA-MH-A856-01A-11D-A34Z-10	TCGA-MH-A856-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	08268f2c-7eb1-4f12-8ef8-7878585d4e39	e6f69dd8-8606-463e-a198-de6007153945	g.chr8:38092031A>G	ENST00000397166.2	+	3	865	c.340A>G	c.(340-342)Acg>Gcg	p.T114A	DDHD2_ENST00000520272.2_Missense_Mutation_p.T114A	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	114					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|microtubule organizing center (GO:0005815)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			GAGACGATGTACGTGGTTTTA	0.433																																																0													229	230	229					8																	38092031		2203	4300	6503	SO:0001583	missense	23259			AK056525	CCDS34883.1	8p11.23	2014-03-03	2004-04-05	2004-04-07				"Sterile alpha motif (SAM) domain containing"	29106	protein-coding gene	gene with protein product		615003	"SAM, WWE and DDHD domain containing 1"	SAMWD1		9872452, 11788596, 19632984, 20932832	Standard	NM_015214		Approved	KIAA0725, SPG54	uc003xlc.3	O94830		ENST00000397166.2:c.340A>G	chr8.hg19:g.38092031A>G	ENSP00000380352:p.Thr114Ala		B3KWV2|B3KXB5|Q9H8X7	Missense_Mutation	SNP	ENST00000397166.2	hg19	CCDS34883.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.394179	0.83011	.	.	ENSG00000085788	ENST00000527834;ENST00000397166;ENST00000533100;ENST00000528358;ENST00000529642;ENST00000532222;ENST00000520272	T;T;T;T;T;T;T	0.34859	1.34;1.34;1.34;1.34;1.34;1.34;1.34	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.59528	0.2200	M	0.73217	2.22	0.80722	D	1	B;D	0.76494	0.157;0.999	B;D	0.78314	0.129;0.991	T	0.61802	-0.6988	10	0.56958	D	0.05	-16.5827	14.9594	0.71144	1.0:0.0:0.0:0.0	.	114;114	O94830;E9PKE6	DDHD2_HUMAN;.	A	114;114;114;112;18;114;114	ENSP00000432433:T114A;ENSP00000380352:T114A;ENSP00000432678:T114A;ENSP00000433118:T112A;ENSP00000436444:T18A;ENSP00000433578:T114A;ENSP00000429932:T114A	ENSP00000380352:T114A	T	+	1	0	DDHD2	38211188	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	8.398000	0.90195	2.207000	0.71202	0.533000	0.62120	ACG		0.433	DDHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377251.2	XM_291291		G	38092031	A	G	38092031	3	3	768	1	0	0	0	0	1	0	0	0	4329	391	14	3	346	3	DDHD2	8	38092031	Missense_Mutation	SNP	A	TCGA-MH-A856-01A-11D-A34Z-10		38092031	108271991	39	45364											
PLEC	5339	hgsc.bcm.edu	37	8	144997605	144997605	+	Silent	SNP	G	G	A	rs575031901	byFrequency	TCGA-MH-A856-01A-11D-A34Z-10	TCGA-MH-A856-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	08268f2c-7eb1-4f12-8ef8-7878585d4e39	e6f69dd8-8606-463e-a198-de6007153945	g.chr8:144997605G>A	ENST00000322810.4	-	31	7072	c.6903C>T	c.(6901-6903)gaC>gaT	p.D2301D	PLEC_ENST00000356346.3_Silent_p.D2150D|PLEC_ENST00000345136.3_Silent_p.D2164D|PLEC_ENST00000354589.3_Silent_p.D2164D|PLEC_ENST00000357649.2_Silent_p.D2168D|PLEC_ENST00000436759.2_Silent_p.D2191D|PLEC_ENST00000527096.1_Silent_p.D2187D|PLEC_ENST00000398774.2_Silent_p.D2132D|PLEC_ENST00000354958.2_Silent_p.D2142D	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2301	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						CCATCTCCGCGTCAGCTGCCT	0.672													G|||	3	0.000599042	0.0	0.0	5008	,	,		11719	0.0		0.0	False		,,,				2504	0.0031															0													11	14	13					8																	144997605		2085	4221	6306	SO:0001819	synonymous_variant	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.6903C>T	chr8.hg19:g.144997605G>A			Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	hg19	CCDS43772.1																																																																																				0.672	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		A	144997605	G	A	144997605	2	1	768	1	0	0	0	0	0	0	0	1	12054	1136	40	1		1	PLEC	8	144997605	Silent	SNP	G	TCGA-MH-A856-01A-11D-A34Z-10	106905574	144997605	1366417	40	45365											
LOXL4	84171	hgsc.bcm.edu	37	10	100020789	100020789	+	Missense_Mutation	SNP	C	C	A			TCGA-MH-A856-01A-11D-A34Z-10	TCGA-MH-A856-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	08268f2c-7eb1-4f12-8ef8-7878585d4e39	e6f69dd8-8606-463e-a198-de6007153945	g.chr10:100020789C>A	ENST00000260702.3	-	4	702	c.552G>T	c.(550-552)gaG>gaT	p.E184D		NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	184	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.					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)		GCCAGTGGCCCTCATACTTCA	0.667																																																0													106	79	88					10																	100020789		2203	4300	6503	SO:0001583	missense	84171			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.552G>T	chr10.hg19:g.100020789C>A	ENSP00000260702:p.Glu184Asp		Q5W0B3|Q96DY1|Q96PC0|Q9H6T5	Missense_Mutation	SNP	ENST00000260702.3	hg19	CCDS7473.1	.	.	.	.	.	.	.	.	.	.	C	8.607	0.888261	0.17540	.	.	ENSG00000138131	ENST00000260702	T	0.27557	1.66	5.53	-6.5	0.01884	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.474502	0.24985	N	0.034025	T	0.07863	0.0197	N	0.04508	-0.205	0.19300	N	0.999974	B	0.10296	0.003	B	0.13407	0.009	T	0.25572	-1.0128	10	0.12430	T	0.62	.	3.1247	0.06403	0.1631:0.1373:0.4253:0.2743	.	184	Q96JB6	LOXL4_HUMAN	D	184	ENSP00000260702:E184D	ENSP00000260702:E184D	E	-	3	2	LOXL4	100010779	0.004000	0.15560	0.578000	0.28575	0.859000	0.49053	-1.149000	0.03182	-1.027000	0.03325	-1.045000	0.02358	GAG		0.667	LOXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049766.1	NM_032211		A	100020789	C	A	100020789	3	1	768	1	0	0	0	0	1	0	0	0	8904	680	24	4	1766	4	LOXL4	10	100020789	Missense_Mutation	SNP	C	TCGA-MH-A856-01A-11D-A34Z-10		100020789	35513958	41	45366											
BIRC2	329	hgsc.bcm.edu	37	11	102220675	102220675	+	Missense_Mutation	SNP	T	T	G			TCGA-MH-A856-01A-11D-A34Z-10	TCGA-MH-A856-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	08268f2c-7eb1-4f12-8ef8-7878585d4e39	e6f69dd8-8606-463e-a198-de6007153945	g.chr11:102220675T>G	ENST00000227758.2	+	2	1489	c.90T>G	c.(88-90)gaT>gaG	p.D30E	BIRC2_ENST00000532672.1_Missense_Mutation_p.D9E|BIRC2_ENST00000530675.1_Intron|BIRC2_ENST00000527910.1_3'UTR	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	Q13490	BIRC2_HUMAN	baculoviral IAP repeat containing 2	30					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein K48-linked ubiquitination (GO:1902524)|positive regulation of protein K63-linked ubiquitination (GO:1902523)|positive regulation of protein monoubiquitination (GO:1902527)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cell cycle (GO:0051726)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|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)|regulation of transcription, DNA-templated (GO:0006355)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	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)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		TCTTGTCAGATTGGACAAACA	0.428																																																0													121	118	119					11																	102220675		2203	4299	6502	SO:0001583	missense	329			L49431	CCDS8316.1, CCDS58169.1	11q22	2011-01-25	2011-01-25		ENSG00000110330	ENSG00000110330		"Baculoviral IAP repeat containing", "RING-type (C3HC4) zinc fingers"	590	protein-coding gene	gene with protein product	"NFR2-TRAF signalling complex protein", "apoptosis inhibitor 1"	601712	"baculoviral IAP repeat-containing 2"	API1		8552191, 8548810	Standard	NM_001166		Approved	cIAP1, hiap-2, MIHB, RNF48, c-IAP1	uc010ruq.3	Q13490	OTTHUMG00000167325	ENST00000227758.2:c.90T>G	chr11.hg19:g.102220675T>G	ENSP00000227758:p.Asp30Glu		B4E026|Q16516|Q4TTG0	Missense_Mutation	SNP	ENST00000227758.2	hg19	CCDS8316.1	.	.	.	.	.	.	.	.	.	.	T	11.47	1.647966	0.29336	.	.	ENSG00000110330	ENST00000227758;ENST00000541741;ENST00000532672;ENST00000527465	T;T;T	0.62232	2.13;2.12;0.04	5.5	3.2	0.36748	Baculoviral inhibition of apoptosis protein repeat (1);	0.583137	0.21661	N	0.071015	T	0.35885	0.0947	N	0.08118	0	0.09310	N	0.999993	B	0.13594	0.008	B	0.15484	0.013	T	0.15780	-1.0425	10	0.25106	T	0.35	-3.5714	5.9772	0.19387	0.0:0.1492:0.1389:0.7119	.	30	Q13490	BIRC2_HUMAN	E	30;30;9;9	ENSP00000227758:D30E;ENSP00000434979:D9E;ENSP00000434708:D9E	ENSP00000227758:D30E	D	+	3	2	BIRC2	101725885	0.069000	0.21087	0.937000	0.37676	0.729000	0.41735	0.134000	0.15932	0.519000	0.28406	-0.254000	0.11334	GAT		0.428	BIRC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394170.1	NM_001166		G	102220675	T	G	102220675	3	3	768	1	0	0	0	0	1	0	0	0	1435	1490	52	5	92	5	BIRC2	11	102220675	Missense_Mutation	SNP	T	TCGA-MH-A856-01A-11D-A34Z-10		102220675	32785841	42	45367											
DLAT	1737	hgsc.bcm.edu	37	11	111899514	111899514	+	Splice_Site	SNP	A	A	T			TCGA-MH-A856-01A-11D-A34Z-10	TCGA-MH-A856-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	08268f2c-7eb1-4f12-8ef8-7878585d4e39	e6f69dd8-8606-463e-a198-de6007153945	g.chr11:111899514A>T	ENST00000280346.6	+	4	1165		c.e4-1		DLAT_ENST00000393051.1_Splice_Site|DLAT_ENST00000537636.1_Intron	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)		TCTCTTCCTTAGGCCTGAGGA	0.428																																																0													70	78	76					11																	111899514		2201	4297	6498	SO:0001630	splice_region_variant	1737			Y00978	CCDS8354.1	11q23.1	2008-02-05	2008-02-04		ENSG00000150768	ENSG00000150768	2.3.1.12		2896	protein-coding gene	gene with protein product	"E2 component of pyruvate dehydrogenase complex"	608770		DLTA		8102256	Standard	NM_001931		Approved	PDC-E2	uc001pmo.3	P10515	OTTHUMG00000133751	ENST00000280346.6:c.507-1A>T	chr11.hg19:g.111899514A>T			Q16783|Q53EP3	Splice_Site	SNP	ENST00000280346.6	hg19	CCDS8354.1	.	.	.	.	.	.	.	.	.	.	A	19.61	3.860721	0.71834	.	.	ENSG00000150768	ENST00000280346;ENST00000534998;ENST00000393051	.	.	.	4.88	4.88	0.63580	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4904	0.67647	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DLAT	111404724	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	7.704000	0.84595	1.836000	0.53414	0.377000	0.23210	.		0.428	DLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258167.1	NM_001931	Intron	T	111899514	A	T	111899514	5	4	768	1	0	0	0	0	0	0	1	0	4551	434	15	5	519	5	DLAT	11	111899514	Splice_Site	SNP	A	TCGA-MH-A856-01A-11D-A34Z-10	9678839	111899514	23107002	43	45368											
ARHGAP32	9743	hgsc.bcm.edu	37	11	128846491	128846491	+	Missense_Mutation	SNP	C	C	G			TCGA-MH-A856-01A-11D-A34Z-10	TCGA-MH-A856-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	08268f2c-7eb1-4f12-8ef8-7878585d4e39	e6f69dd8-8606-463e-a198-de6007153945	g.chr11:128846491C>G	ENST00000310343.9	-	19	2118	c.2119G>C	c.(2119-2121)Gag>Cag	p.E707Q	ARHGAP32_ENST00000524655.1_Missense_Mutation_p.E633Q|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.E358Q|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.E358Q	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	707					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						AGAGACTCCTCACTTTTAGCT	0.363																																																0													107	108	108					11																	128846491		2201	4297	6498	SO:0001583	missense	9743			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.2119G>C	chr11.hg19:g.128846491C>G	ENSP00000310561:p.Glu707Gln		I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	hg19	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	C	33	5.210996	0.95069	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000524655;ENST00000457677;ENST00000527272	T;T;T;T	0.23147	1.92;1.92;1.92;1.92	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.42314	0.1197	M	0.66939	2.045	0.58432	D	0.999999	P;P	0.52577	0.778;0.954	P;B	0.49451	0.611;0.393	T	0.17319	-1.0373	10	0.59425	D	0.04	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	641;707	Q86T64;A7KAX9	.;RHG32_HUMAN	Q	707;358;633;641;358	ENSP00000310561:E707Q;ENSP00000376425:E358Q;ENSP00000432468:E633Q;ENSP00000432862:E358Q	ENSP00000310561:E707Q	E	-	1	0	ARHGAP32	128351701	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	7.277000	0.78572	2.885000	0.99019	0.655000	0.94253	GAG		0.363	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		G	128846491	C	G	128846491	3	3	768	1	0	0	0	0	1	0	0	0	881	835	29	4	4160	4	ARHGAP32	11	128846491	Missense_Mutation	SNP	C	TCGA-MH-A856-01A-11D-A34Z-10	16946977	128846491	6160025	44	45369											
KRT5	3852	hgsc.bcm.edu	37	12	52910546	52910546	+	Silent	SNP	G	G	A			TCGA-MH-A856-01A-11D-A34Z-10	TCGA-MH-A856-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	08268f2c-7eb1-4f12-8ef8-7878585d4e39	e6f69dd8-8606-463e-a198-de6007153945	g.chr12:52910546G>A	ENST00000252242.4	-	7	1704	c.1314C>T	c.(1312-1314)gcC>gcT	p.A438A		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	438	Coil 2.|Rod.		A -> D (in WC-EBS). {ECO:0000269|PubMed:12655565}.		cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		CCTTCTGCAGGGCCTCCTCCA	0.632																																																0													97	87	90					12																	52910546		2203	4300	6503	SO:0001819	synonymous_variant	3852				CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"-", "Intermediate filaments type II, keratins (basic)"	6442	protein-coding gene	gene with protein product		148040	"epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types", "keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.1314C>T	chr12.hg19:g.52910546G>A			Q6PI71|Q6UBJ0|Q8TA91	Silent	SNP	ENST00000252242.4	hg19	CCDS8830.1	.	.	.	.	.	.	.	.	.	.	G	11.13	1.547660	0.27652	.	.	ENSG00000186081	ENST00000548409	.	.	.	5.93	3.09	0.35607	.	.	.	.	.	T	0.55705	0.1937	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46707	-0.9172	4	.	.	.	.	7.3447	0.26656	0.2475:0.1167:0.6358:0.0	.	.	.	.	S	146	.	.	P	-	1	0	KRT5	51196813	0.156000	0.22821	0.991000	0.47740	0.976000	0.68499	-0.471000	0.06631	0.389000	0.25086	0.655000	0.94253	CCT		0.632	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405312.1			A	52910546	G	A	52910546	2	1	768	1	0	0	0	0	0	0	0	1	8481	1219	43	2		2	KRT5	12	52910546	Silent	SNP	G	TCGA-MH-A856-01A-11D-A34Z-10		52910546	80941349	45	45370											
ESYT1	23344	hgsc.bcm.edu	37	12	56536880	56536880	+	Missense_Mutation	SNP	A	A	G			TCGA-MH-A856-01A-11D-A34Z-10	TCGA-MH-A856-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	08268f2c-7eb1-4f12-8ef8-7878585d4e39	e6f69dd8-8606-463e-a198-de6007153945	g.chr12:56536880A>G	ENST00000394048.5	+	28	3331	c.3067A>G	c.(3067-3069)Aag>Gag	p.K1023E	ESYT1_ENST00000541590.1_Missense_Mutation_p.K1033E|ESYT1_ENST00000267113.4_Missense_Mutation_p.K1033E	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	1023	C2 5. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Required for phosphatidylinositol 4,5- bisphosphate-dependent location at the cell membrane. {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						CCGAGGCACCAAGAGGAGGAC	0.522																																																0													133	127	129					12																	56536880		2203	4300	6503	SO:0001583	missense	23344			AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"Synaptotagmins"	29534	protein-coding gene	gene with protein product			"family with sequence similarity 62 (C2 domain containing), member A"	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.3067A>G	chr12.hg19:g.56536880A>G	ENSP00000377612:p.Lys1023Glu		A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Missense_Mutation	SNP	ENST00000394048.5	hg19	CCDS8904.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.744295	0.89663	.	.	ENSG00000139641	ENST00000394048;ENST00000402331;ENST00000267113;ENST00000541590	T;T;T	0.70869	-0.52;-0.52;-0.52	5.22	5.22	0.72569	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.107964	0.64402	D	0.000011	D	0.84570	0.5501	M	0.88512	2.96	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.91635	0.999;0.994	D	0.83962	0.0322	10	0.22109	T	0.4	-23.4658	12.9417	0.58348	1.0:0.0:0.0:0.0	.	1033;1023	Q9BSJ8-2;Q9BSJ8	.;ESYT1_HUMAN	E	1023;977;1033;1033	ENSP00000377612:K1023E;ENSP00000267113:K1033E;ENSP00000445952:K1033E	ENSP00000267113:K1033E	K	+	1	0	ESYT1	54823147	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.577000	0.67444	2.107000	0.64212	0.459000	0.35465	AAG		0.522	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407906.1	NM_015292		G	56536880	A	G	56536880	3	3	768	1	0	0	0	0	1	0	0	0	5266	131	5	3	3207	3	ESYT1	12	56536880	Missense_Mutation	SNP	A	TCGA-MH-A856-01A-11D-A34Z-10	3626334	56536880	77315015	46	45371											
SLC17A8	246213	hgsc.bcm.edu	37	12	100774514	100774514	+	Frame_Shift_Del	DEL	T	T	-			TCGA-MH-A856-01A-11D-A34Z-10	TCGA-MH-A856-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	08268f2c-7eb1-4f12-8ef8-7878585d4e39	e6f69dd8-8606-463e-a198-de6007153945	g.chr12:100774514delT	ENST00000323346.5	+	2	450	c.137delT	c.(136-138)attfs	p.I46fs	SLC17A8_ENST00000392989.3_Frame_Shift_Del_p.I46fs	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	46					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						GAAGATAACATTGAGCTGAAT	0.473																																																0													116	121	119					12																	100774514		2203	4300	6503	SO:0001589	frameshift_variant	246213			AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"Solute carriers"	20151	protein-coding gene	gene with protein product	"vesicular glutamate transporter 3"	607557	"deafness, autosomal dominant 25", "solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.137delT	chr12.hg19:g.100774514delT	ENSP00000316909:p.Ile46fs		B3KXZ6|B7ZKV4|Q17RQ8	Frame_Shift_Del	DEL	ENST00000323346.5	hg19	CCDS9077.1																																																																																				0.473	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408673.2	NM_139319		-	100774514	T	-	100774514	7	5	768	1	0	1	0	1	0	0	0	0	14429	1493	52	0	143	0	SLC17A8	12	100774514	Frame_Shift_Del	DEL	T	TCGA-MH-A856-01A-11D-A34Z-10	44237634	100774514	33077381	47	45372											
IFT81	28981	hgsc.bcm.edu	37	12	110618356	110618356	+	Missense_Mutation	SNP	G	G	A			TCGA-MH-A856-01A-11D-A34Z-10	TCGA-MH-A856-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	08268f2c-7eb1-4f12-8ef8-7878585d4e39	e6f69dd8-8606-463e-a198-de6007153945	g.chr12:110618356G>A	ENST00000242591.5	+	12	1824	c.1318G>A	c.(1318-1320)Gaa>Aaa	p.E440K	IFT81_ENST00000552912.1_Missense_Mutation_p.E440K	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81	440					cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|spermatogenesis (GO:0007283)	centrosome (GO:0005813)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)	tubulin binding (GO:0015631)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						GCAACGTCATGAAAATATTCA	0.353																																																0													74	66	69					12																	110618356		1826	4083	5909	SO:0001583	missense	28981			AF139540	CCDS9142.1, CCDS41831.1	12q24.13	2014-07-03	2014-07-03	2005-11-02		ENSG00000122970		"Intraflagellar transport homologs"	14313	protein-coding gene	gene with protein product		605489	"carnitine deficiency-associated, expressed in ventricle 1", "intraflagellar transport 81 homolog (Chlamydomonas)"	CDV1		11130971	Standard	NM_014055		Approved	CDV-1R, MGC4027	uc001tqi.3	Q8WYA0	OTTHUMG00000169326	ENST00000242591.5:c.1318G>A	chr12.hg19:g.110618356G>A	ENSP00000242591:p.Glu440Lys		Q2YDY1|Q8NB51|Q9BSV2|Q9UNY8	Missense_Mutation	SNP	ENST00000242591.5	hg19	CCDS41831.1	.	.	.	.	.	.	.	.	.	.	G	18.86	3.712746	0.68730	.	.	ENSG00000122970	ENST00000552912;ENST00000242591	T;T	0.16743	2.32;2.32	6.07	5.19	0.71726	.	0.346210	0.36815	N	0.002382	T	0.22475	0.0542	M	0.65975	2.015	0.80722	D	1	P	0.39862	0.692	B	0.39840	0.311	T	0.02852	-1.1102	10	0.22706	T	0.39	-12.7522	15.5714	0.76341	0.0659:0.0:0.9341:0.0	.	440	Q8WYA0	IFT81_HUMAN	K	440	ENSP00000449718:E440K;ENSP00000242591:E440K	ENSP00000242591:E440K	E	+	1	0	IFT81	109102739	1.000000	0.71417	0.996000	0.52242	0.908000	0.53690	5.664000	0.68045	1.580000	0.49851	-0.150000	0.13652	GAA		0.353	IFT81-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403529.1	NM_014055		A	110618356	G	A	110618356	3	1	768	1	0	0	0	0	1	0	0	0	7567	1291	45	2	1472	2	IFT81	12	110618356	Missense_Mutation	SNP	G	TCGA-MH-A856-01A-11D-A34Z-10	9843842	110618356	23233539	48	45373	485	2									
IFT81	28981	hgsc.bcm.edu	37	12	110618362	110618362	+	Missense_Mutation	SNP	A	A	T			TCGA-MH-A856-01A-11D-A34Z-10	TCGA-MH-A856-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	08268f2c-7eb1-4f12-8ef8-7878585d4e39	e6f69dd8-8606-463e-a198-de6007153945	g.chr12:110618362A>T	ENST00000242591.5	+	12	1830	c.1324A>T	c.(1324-1326)Att>Ttt	p.I442F	IFT81_ENST00000552912.1_Missense_Mutation_p.I442F	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81	442					cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|spermatogenesis (GO:0007283)	centrosome (GO:0005813)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)	tubulin binding (GO:0015631)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						TCATGAAAATATTCAACAACA	0.338																																																0													70	63	66					12																	110618362		1829	4082	5911	SO:0001583	missense	28981			AF139540	CCDS9142.1, CCDS41831.1	12q24.13	2014-07-03	2014-07-03	2005-11-02		ENSG00000122970		"Intraflagellar transport homologs"	14313	protein-coding gene	gene with protein product		605489	"carnitine deficiency-associated, expressed in ventricle 1", "intraflagellar transport 81 homolog (Chlamydomonas)"	CDV1		11130971	Standard	NM_014055		Approved	CDV-1R, MGC4027	uc001tqi.3	Q8WYA0	OTTHUMG00000169326	ENST00000242591.5:c.1324A>T	chr12.hg19:g.110618362A>T	ENSP00000242591:p.Ile442Phe		Q2YDY1|Q8NB51|Q9BSV2|Q9UNY8	Missense_Mutation	SNP	ENST00000242591.5	hg19	CCDS41831.1	.	.	.	.	.	.	.	.	.	.	A	13.74	2.326704	0.41197	.	.	ENSG00000122970	ENST00000552912;ENST00000242591	T;T	0.17691	2.26;2.26	6.07	4.92	0.64577	.	0.309061	0.39210	N	0.001424	T	0.14270	0.0345	L	0.38838	1.175	0.80722	D	1	B	0.12013	0.005	B	0.13407	0.009	T	0.05649	-1.0872	10	0.27785	T	0.31	-12.4757	12.5221	0.56065	0.9341:0.0:0.0659:0.0	.	442	Q8WYA0	IFT81_HUMAN	F	442	ENSP00000449718:I442F;ENSP00000242591:I442F	ENSP00000242591:I442F	I	+	1	0	IFT81	109102745	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	4.247000	0.58750	2.326000	0.78906	0.533000	0.62120	ATT		0.338	IFT81-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403529.1	NM_014055		T	110618362	A	T	110618362	3	4	768	1	0	0	0	0	1	0	0	0	7567	449	16	5	1478	5	IFT81	12	110618362	Missense_Mutation	SNP	A	TCGA-MH-A856-01A-11D-A34Z-10	6	110618362	23233533	49	45374	485	2									
KIAA1737	85457	hgsc.bcm.edu	37	14	77580331	77580331	+	Silent	SNP	C	C	T			TCGA-MH-A856-01A-11D-A34Z-10	TCGA-MH-A856-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	08268f2c-7eb1-4f12-8ef8-7878585d4e39	e6f69dd8-8606-463e-a198-de6007153945	g.chr14:77580331C>T	ENST00000361786.2	+	4	1187	c.870C>T	c.(868-870)agC>agT	p.S290S	RP11-463C8.4_ENST00000557752.1_Intron	NM_033426.2	NP_219494.2	Q9C0C6	CIPC_HUMAN		290					negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(2)|lung(4)|prostate(3)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)		CTAATTATAGCTCACCTTTAT	0.542																																																0													99	93	95					14																	77580331		2203	4300	6503	SO:0001819	synonymous_variant	85457																														ENST00000361786.2:c.870C>T	chr14.hg19:g.77580331C>T			B2RCI1|Q8N389|Q8NDZ1	Silent	SNP	ENST00000361786.2	hg19	CCDS9855.1																																																																																				0.542	KIAA1737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414278.1			T	77580331	C	T	77580331	2	4	768	1	0	0	0	0	0	0	0	1	8257	796	28	2		2	KIAA1737	14	77580331	Silent	SNP	C	TCGA-MH-A856-01A-11D-A34Z-10		77580331	29769209	50	45375											
HMG20A	10363	hgsc.bcm.edu	37	15	77756629	77756629	+	Frame_Shift_Del	DEL	C	C	-			TCGA-MH-A856-01A-11D-A34Z-10	TCGA-MH-A856-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	08268f2c-7eb1-4f12-8ef8-7878585d4e39	e6f69dd8-8606-463e-a198-de6007153945	g.chr15:77756629delC	ENST00000381714.3	+	4	565	c.137delC	c.(136-138)accfs	p.T46fs	HMG20A_ENST00000336216.4_Frame_Shift_Del_p.T46fs	NM_018200.2	NP_060670.1	Q9NP66	HM20A_HUMAN	high mobility group 20A	46					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|negative regulation of neuron differentiation (GO:0045665)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						ACATCATCCACCAACAATCCA	0.433																																																0													143	120	128					15																	77756629		2196	4294	6490	SO:0001589	frameshift_variant	10363			AF146222	CCDS10295.1	15q24	2011-07-01	2011-04-05		ENSG00000140382	ENSG00000140382		"High mobility group / Non-canonical"	5001	protein-coding gene	gene with protein product	"HMG box domain containing 1"	605534	"high-mobility group 20A"			10773667	Standard	NM_018200		Approved	HMGX1, FLJ10739, HMGXB1	uc002bcr.3	Q9NP66	OTTHUMG00000143729	ENST00000381714.3:c.137delC	chr15.hg19:g.77756629delC	ENSP00000371133:p.Thr46fs		A6NHY3|D3DW78|Q53G31|Q9NSF6	Frame_Shift_Del	DEL	ENST00000381714.3	hg19	CCDS10295.1																																																																																				0.433	HMG20A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419512.2	NM_018200		-	77756629	C	-	77756629	7	5	768	1	0	1	0	1	0	0	0	0	7223	507	18	0	143	0	HMG20A	15	77756629	Frame_Shift_Del	DEL	C	TCGA-MH-A856-01A-11D-A34Z-10		77756629	24774763	51	45376											
CHTF18	63922	hgsc.bcm.edu	37	16	841194	841194	+	Missense_Mutation	SNP	T	T	G	rs374149034		TCGA-MH-A856-01A-11D-A34Z-10	TCGA-MH-A856-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	08268f2c-7eb1-4f12-8ef8-7878585d4e39	e6f69dd8-8606-463e-a198-de6007153945	g.chr16:841194T>G	ENST00000262315.9	+	8	991	c.928T>G	c.(928-930)Ttg>Gtg	p.L310V	CHTF18_ENST00000317063.6_Missense_Mutation_p.L505V|CHTF18_ENST00000455171.2_Missense_Mutation_p.L338V|CHTF18_ENST00000491530.1_3'UTR|RPUSD1_ENST00000007264.2_5'Flank|RPUSD1_ENST00000567114.1_5'Flank|RPUSD1_ENST00000565809.1_5'Flank	NM_022092.2	NP_071375.1	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	310					cell cycle (GO:0007049)|DNA replication (GO:0006260)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				GTGGCTGAAGTTGTGGGACCT	0.662																																																0								T	VAL/LEU	0,4244		0,0,2122	20	25	23		928	2.8	1	16		23	1,8443		0,1,4221	no	missense	CHTF18	NM_022092.2	32	0,1,6343	GG,GT,TT		0.0118,0.0,0.0079	probably-damaging	310/976	841194	1,12687	2122	4222	6344	SO:0001583	missense	63922			BC018184	CCDS45371.1	16p13.3	2010-04-21	2003-12-09		ENSG00000127586	ENSG00000127586		"ATPases / AAA-type"	18435	protein-coding gene	gene with protein product		613201	"chromosome 16 open reading frame 41"	C16orf41		12171929	Standard	NM_022092		Approved	CHL12, C321D2.4, Ctf18	uc002cke.4	Q8WVB6	OTTHUMG00000047838	ENST00000262315.9:c.928T>G	chr16.hg19:g.841194T>G	ENSP00000262315:p.Leu310Val		B7ZBA2|D3DU68|Q7Z6Y4|Q7Z6Y6|Q9BR83|Q9BRG5|Q9H7K3	Missense_Mutation	SNP	ENST00000262315.9	hg19	CCDS45371.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.44|15.44	2.832785|2.832785	0.50951|0.50951	0.0|0.0	1.18E-4|1.18E-4	ENSG00000127586|ENSG00000127586	ENST00000317063;ENST00000455171;ENST00000262315|ENST00000426047	T;T;T|.	0.17691|.	2.26;2.26;2.26|.	4.85|4.85	2.78|2.78	0.32641|0.32641	.|.	0.070845|.	0.56097|.	N|.	0.000026|.	T|T	0.73590|0.73590	0.3606|0.3606	M|M	0.85197|0.85197	2.74|2.74	0.58432|0.58432	D|D	0.999999|0.999999	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;0.999|.	T|T	0.72776|0.72776	-0.4191|-0.4191	10|5	0.30078|.	T|.	0.28|.	-21.219|-21.219	9.1807|9.1807	0.37141|0.37141	0.0:0.8168:0.0:0.1832|0.0:0.8168:0.0:0.1832	.|.	338;310|.	Q8WVB6-2;Q8WVB6|.	.;CTF18_HUMAN|.	V|G	505;338;310|205	ENSP00000313029:L505V;ENSP00000406252:L338V;ENSP00000262315:L310V|.	ENSP00000262315:L310V|.	L|V	+|+	1|2	2|0	CHTF18|CHTF18	781195|781195	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.967000|0.967000	0.64934|0.64934	3.942000|3.942000	0.56614|0.56614	0.564000|0.564000	0.29238|0.29238	-0.301000|-0.301000	0.09380|0.09380	TTG|GTT		0.662	CHTF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109061.3	NM_022092		G	841194	T	G	841194	3	3	768	1	0	0	0	0	1	0	0	0	3416	1722	60	5	958	5	CHTF18	16	841194	Missense_Mutation	SNP	T	TCGA-MH-A856-01A-11D-A34Z-10		841194	89513559	52	45377											
CREBBP	1387	hgsc.bcm.edu	37	16	3860645	3860645	+	Missense_Mutation	SNP	T	T	C			TCGA-MH-A856-01A-11D-A34Z-10	TCGA-MH-A856-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	08268f2c-7eb1-4f12-8ef8-7878585d4e39	e6f69dd8-8606-463e-a198-de6007153945	g.chr16:3860645T>C	ENST00000262367.5	-	3	1743	c.934A>G	c.(934-936)Aca>Gca	p.T312A	CREBBP_ENST00000382070.3_Missense_Mutation_p.T312A	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	312	Interaction with SRCAP.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TTGATATCTGTAGGGAAGGTG	0.527			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																																Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	0													215	196	203					16																	3860645		2197	4300	6497	SO:0001583	missense	1387			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.934A>G	chr16.hg19:g.3860645T>C	ENSP00000262367:p.Thr312Ala		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	hg19	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	T	10.24	1.294678	0.23564	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.82433	-1.61;-1.52	5.28	-6.97	0.01616	.	0.454713	0.21929	N	0.067045	T	0.55847	0.1946	N	0.19112	0.55	0.22737	N	0.998795	B;B	0.24721	0.069;0.11	B;B	0.21546	0.035;0.011	T	0.60078	-0.7333	10	0.05525	T	0.97	-0.0051	5.1164	0.14836	0.2035:0.4842:0.0877:0.2246	.	380;312	Q4LE28;Q92793	.;CBP_HUMAN	A	312;380;312	ENSP00000262367:T312A;ENSP00000371502:T312A	ENSP00000262367:T312A	T	-	1	0	CREBBP	3800646	0.001000	0.12720	0.643000	0.29450	0.974000	0.67602	-0.279000	0.08479	-0.852000	0.04141	0.460000	0.39030	ACA		0.527	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		C	3860645	T	C	3860645	3	2	768	1	0	0	0	0	1	0	0	0	3863	1638	57	3	6510	3	CREBBP	16	3860645	Missense_Mutation	SNP	T	TCGA-MH-A856-01A-11D-A34Z-10	3019451	3860645	86494108	53	45378											
TMEM186	25880	hgsc.bcm.edu	37	16	8890188	8890188	+	Missense_Mutation	SNP	G	G	A			TCGA-MH-A856-01A-11D-A34Z-10	TCGA-MH-A856-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	08268f2c-7eb1-4f12-8ef8-7878585d4e39	e6f69dd8-8606-463e-a198-de6007153945	g.chr16:8890188G>A	ENST00000333050.6	-	2	296	c.263C>T	c.(262-264)cCa>cTa	p.P88L	PMM2_ENST00000537352.1_5'Flank|PMM2_ENST00000268261.4_5'Flank|TMEM186_ENST00000564869.1_Intron|PMM2_ENST00000566983.1_Intron|PMM2_ENST00000539622.1_5'Flank|PMM2_ENST00000569958.1_5'Flank	NM_015421.3	NP_056236.2	Q96B77	TM186_HUMAN	transmembrane protein 186	88						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9						GTAATAGCCTGGTGGCAAAGC	0.527																																																0													113	99	104					16																	8890188		2197	4300	6497	SO:0001583	missense	25880			BC015912	CCDS10535.1	16p13.2	2008-02-05	2007-02-08	2007-02-08	ENSG00000184857	ENSG00000184857			24530	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 51"	C16orf51		11230166	Standard	NM_015421		Approved	DKFZP564K2062	uc002cze.3	Q96B77	OTTHUMG00000129696	ENST00000333050.6:c.263C>T	chr16.hg19:g.8890188G>A	ENSP00000331640:p.Pro88Leu		B2RAY0|Q9Y4T4	Missense_Mutation	SNP	ENST00000333050.6	hg19	CCDS10535.1	.	.	.	.	.	.	.	.	.	.	G	12.72	2.022735	0.35701	.	.	ENSG00000184857	ENST00000333050	.	.	.	5.36	3.38	0.38709	.	0.000000	0.45606	D	0.000348	T	0.51126	0.1656	M	0.63428	1.95	0.54753	D	0.999989	P	0.37207	0.587	B	0.34242	0.178	T	0.54715	-0.8252	9	0.46703	T	0.11	-11.2014	10.9642	0.47403	0.1567:0.0:0.8433:0.0	.	88	Q96B77	TM186_HUMAN	L	88	.	ENSP00000331640:P88L	P	-	2	0	TMEM186	8797689	1.000000	0.71417	0.011000	0.14972	0.025000	0.11179	6.023000	0.70848	1.275000	0.44379	0.561000	0.74099	CCA		0.527	TMEM186-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251903.1	NM_015421		A	8890188	G	A	8890188	3	1	768	1	0	0	0	0	1	0	0	0	16113	1348	47	2	382	2	TMEM186	16	8890188	Missense_Mutation	SNP	G	TCGA-MH-A856-01A-11D-A34Z-10	5029543	8890188	81464565	54	45379											
SRCAP	10847	hgsc.bcm.edu	37	16	30731535	30731535	+	Missense_Mutation	SNP	G	G	A			TCGA-MH-A856-01A-11D-A34Z-10	TCGA-MH-A856-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	08268f2c-7eb1-4f12-8ef8-7878585d4e39	e6f69dd8-8606-463e-a198-de6007153945	g.chr16:30731535G>A	ENST00000262518.4	+	19	3255	c.2870G>A	c.(2869-2871)cGa>cAa	p.R957Q	SRCAP_ENST00000344771.4_Missense_Mutation_p.R957Q|SRCAP_ENST00000395059.2_Missense_Mutation_p.R957Q	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	957					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)			CGTGTCTCTCGATATGAGGCA	0.542																																																0													183	184	183					16																	30731535		2197	4300	6497	SO:0001583	missense	10847			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.2870G>A	chr16.hg19:g.30731535G>A	ENSP00000262518:p.Arg957Gln		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	hg19	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	G	29.0	4.971261	0.92919	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.92249	-3.0;-2.87;-2.94	5.45	5.45	0.79879	.	0.000000	0.48286	D	0.000186	D	0.94574	0.8252	L	0.47716	1.5	0.43347	D	0.995408	D;D;D	0.89917	0.994;1.0;1.0	P;D;D	0.85130	0.884;0.997;0.994	D	0.94120	0.7378	10	0.45353	T	0.12	-7.4366	18.0556	0.89363	0.0:0.0:1.0:0.0	.	957;957;957	Q6ZRS2-3;Q6ZRS2-2;Q6ZRS2	.;.;SRCAP_HUMAN	Q	957	ENSP00000262518:R957Q;ENSP00000378499:R957Q;ENSP00000343042:R957Q	ENSP00000262518:R957Q	R	+	2	0	SRCAP	30639036	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.067000	0.93955	2.569000	0.86673	0.484000	0.47621	CGA		0.542	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		A	30731535	G	A	30731535	3	1	768	1	0	0	0	0	1	0	0	0	15140	1058	37	1	2936	1	SRCAP	16	30731535	Missense_Mutation	SNP	G	TCGA-MH-A856-01A-11D-A34Z-10	21841347	30731535	59623218	55	45380											
CIRH1A	84916	hgsc.bcm.edu	37	16	69170698	69170698	+	Missense_Mutation	SNP	G	G	A			TCGA-MH-A856-01A-11D-A34Z-10	TCGA-MH-A856-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	08268f2c-7eb1-4f12-8ef8-7878585d4e39	e6f69dd8-8606-463e-a198-de6007153945	g.chr16:69170698G>A	ENST00000314423.7	+	3	436	c.259G>A	c.(259-261)Gat>Aat	p.D87N	CIRH1A_ENST00000352319.4_Missense_Mutation_p.D87N|CIRH1A_ENST00000563094.1_Missense_Mutation_p.D87N			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	87					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)		TATGGAGTATGATTTACAGGC	0.488																																					Melanoma(69;1156 1278 4951 8715 52012)											0													239	237	238					16																	69170698		2198	4300	6498	SO:0001583	missense	84916			AB075868	CCDS10872.1	16q22	2014-04-07			ENSG00000141076	ENSG00000141076		"WD repeat domain containing"	1983	protein-coding gene	gene with protein product	"UTP4, small subunit (SSU) processome component, homolog (yeast)"	607456				10820129, 20385600	Standard	NM_032830		Approved	NAIC, FLJ14728, KIAA1988, TEX292, CIRHIN, UTP4	uc002ews.4	Q969X6	OTTHUMG00000137570	ENST00000314423.7:c.259G>A	chr16.hg19:g.69170698G>A	ENSP00000327179:p.Asp87Asn		Q8NCD9|Q8TF14|Q96SP0|Q96SR9|Q96SZ9|Q96T13|Q9BWK6	Missense_Mutation	SNP	ENST00000314423.7	hg19	CCDS10872.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.926883	0.52759	.	.	ENSG00000141076	ENST00000314423;ENST00000352319	T;T	0.44482	0.92;0.92	5.62	5.62	0.85841	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	0.50292	0.1607	L	0.52905	1.665	0.80722	D	1	P;D	0.61080	0.929;0.989	B;P	0.49683	0.296;0.619	T	0.37244	-0.9714	10	0.33940	T	0.23	.	19.6231	0.95667	0.0:0.0:1.0:0.0	.	87;87	Q969X6;Q969X6-3	CIR1A_HUMAN;.	N	87	ENSP00000327179:D87N;ENSP00000339164:D87N	ENSP00000327179:D87N	D	+	1	0	CIRH1A	67728199	1.000000	0.71417	1.000000	0.80357	0.486000	0.33341	8.755000	0.91646	2.818000	0.97014	0.655000	0.94253	GAT		0.488	CIRH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268950.2	NM_032830		A	69170698	G	A	69170698	3	1	768	1	0	0	0	0	1	0	0	0	3436	1290	45	2	265	2	CIRH1A	16	69170698	Missense_Mutation	SNP	G	TCGA-MH-A856-01A-11D-A34Z-10	38439163	69170698	21184055	56	45381											
ATP2C2	9914	hgsc.bcm.edu	37	16	84482189	84482189	+	Silent	SNP	C	C	T			TCGA-MH-A856-01A-11D-A34Z-10	TCGA-MH-A856-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	08268f2c-7eb1-4f12-8ef8-7878585d4e39	e6f69dd8-8606-463e-a198-de6007153945	g.chr16:84482189C>T	ENST00000262429.4	+	17	1643	c.1554C>T	c.(1552-1554)cgC>cgT	p.R518R	ATP2C2_ENST00000416219.2_Silent_p.R518R|ATP2C2_ENST00000420010.2_3'UTR	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	518					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						AGGTGATCCGCTACTGCACCA	0.532																																																0													84	91	89					16																	84482189		1988	4150	6138	SO:0001819	synonymous_variant	9914			AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"ATPases / P-type"	29103	protein-coding gene	gene with protein product	"secretory pathway calcium ATPase 2"	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.1554C>T	chr16.hg19:g.84482189C>T			B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Silent	SNP	ENST00000262429.4	hg19	CCDS42207.1																																																																																				0.532	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433404.1	NM_014861		T	84482189	C	T	84482189	2	4	768	1	0	0	0	0	0	0	0	1	1144	784	28	2		2	ATP2C2	16	84482189	Silent	SNP	C	TCGA-MH-A856-01A-11D-A34Z-10	15311491	84482189	5872564	57	45382											
SLC25A11	8402	hgsc.bcm.edu	37	17	4841106	4841107	+	Frame_Shift_Ins	INS	-	-	G			TCGA-MH-A856-01A-11D-A34Z-10	TCGA-MH-A856-10A-01D-A34Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	08268f2c-7eb1-4f12-8ef8-7878585d4e39	e6f69dd8-8606-463e-a198-de6007153945	g.chr17:4841106_4841107insG	ENST00000225665.7	-	8	1214_1215	c.874_875insC	c.(874-876)cacfs	p.H292fs	RNF167_ENST00000576229.1_5'Flank|RNF167_ENST00000571816.1_5'Flank|RNF167_ENST00000575111.1_5'Flank|RNF167_ENST00000572430.1_5'Flank|RNF167_ENST00000262482.6_5'Flank|SLC25A11_ENST00000544061.2_Frame_Shift_Ins_p.H241fs	NM_001165417.1|NM_003562.4	NP_001158889.1|NP_003553.2	Q02978	M2OM_HUMAN	solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11	292					alpha-ketoglutarate transport (GO:0015742)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxoglutarate:malate antiporter activity (GO:0015367)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	10						GAGGACGGTGTGGGGGCCCAGG	0.609																																					Esophageal Squamous(144;1178 2388 18010 48797)											0																																										SO:0001589	frameshift_variant	8402			X66114	CCDS11059.1, CCDS54069.1	17p13.3	2013-05-22			ENSG00000108528	ENSG00000108528		"Solute carriers"	10981	protein-coding gene	gene with protein product		604165		SLC20A4		10072597, 1457818	Standard	NM_003562		Approved	OGC	uc002fzo.2	Q02978	OTTHUMG00000099395	ENST00000225665.7:c.875dupC	chr17.hg19:g.4841111_4841111dupG	ENSP00000225665:p.His292fs		F5GY65|O75537|Q969P7	Frame_Shift_Ins	INS	ENST00000225665.7	hg19	CCDS11059.1																																																																																				0.609	SLC25A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216852.4	NM_003562		G	4841107	-	G	4841106	7	5	768	1	0	1	1	0	0	0	0	0	14479	1696	59	0	73	0	SLC25A11	17	4841106	Frame_Shift_Ins	INS	-	TCGA-MH-A856-01A-11D-A34Z-10		4841106	76354104	58	45383											
MLLT6	4302	hgsc.bcm.edu	37	17	36865775	36865775	+	Missense_Mutation	SNP	G	G	C			TCGA-MH-A856-01A-11D-A34Z-10	TCGA-MH-A856-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	08268f2c-7eb1-4f12-8ef8-7878585d4e39	e6f69dd8-8606-463e-a198-de6007153945	g.chr17:36865775G>C	ENST00000325718.7	+	6	590	c.499G>C	c.(499-501)Gag>Cag	p.E167Q	MLLT6_ENST00000378137.5_Missense_Mutation_p.E167Q	NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	167					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)					AGAAGTGCTGGAGGTGGACAA	0.562			T	MLL	AL																																		Dom	yes		17	17q21	4302	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (AF17)"		L	0													154	110	124					17																	36865775		2203	4300	6503	SO:0001583	missense	4302				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.499G>C	chr17.hg19:g.36865775G>C	ENSP00000316426:p.Glu167Gln		Q59F28|Q96IU3|Q9H5F6|Q9UF49	Missense_Mutation	SNP	ENST00000325718.7	hg19	CCDS11327.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.223152	0.58668	.	.	ENSG00000108292	ENST00000325718;ENST00000378137	T;T	0.14640	2.49;2.49	4.35	3.37	0.38596	Zinc finger, PHD-finger (1);Zinc finger, PHD-type (1);	0.066588	0.64402	D	0.000018	T	0.23926	0.0579	L	0.41356	1.27	0.45747	D	0.998647	D;D;D	0.63046	0.971;0.971;0.992	P;P;D	0.65233	0.786;0.786;0.933	T	0.01375	-1.1371	10	0.26408	T	0.33	.	13.395	0.60846	0.0:0.1591:0.8408:0.0	.	167;167;167	E9PEP1;Q6P2C6;P55198	.;.;AF17_HUMAN	Q	167	ENSP00000316426:E167Q;ENSP00000367377:E167Q	ENSP00000316426:E167Q	E	+	1	0	MLLT6	34119301	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.257000	0.95545	1.161000	0.42604	0.591000	0.81541	GAG		0.562	MLLT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256799.1	NM_005937		C	36865775	G	C	36865775	3	2	768	1	0	0	0	0	1	0	0	0	9632	1175	41	4	521	4	MLLT6	17	36865775	Missense_Mutation	SNP	G	TCGA-MH-A856-01A-11D-A34Z-10	32024669	36865775	44329435	59	45384											
ACLY	47	hgsc.bcm.edu	37	17	40054090	40054090	+	Silent	SNP	C	C	T			TCGA-MH-A856-01A-11D-A34Z-10	TCGA-MH-A856-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	08268f2c-7eb1-4f12-8ef8-7878585d4e39	e6f69dd8-8606-463e-a198-de6007153945	g.chr17:40054090C>T	ENST00000352035.2	-	13	1471	c.1341G>A	c.(1339-1341)acG>acA	p.T447T	ACLY_ENST00000590151.1_Silent_p.T447T|ACLY_ENST00000393896.2_Silent_p.T447T|ACLY_ENST00000353196.1_Silent_p.T447T|ACLY_ENST00000537919.1_Silent_p.T186T	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	447					ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				TGGGGGCTGGCGTCTGGGGTG	0.522																																					Colon(64;807 1396 15971 30971)											0													37	38	38					17																	40054090		2203	4300	6503	SO:0001819	synonymous_variant	47			X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"ATP citrate synthase"	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.1341G>A	chr17.hg19:g.40054090C>T			B4DIM0|B4E3P0|Q13037|Q9BRL0	Silent	SNP	ENST00000352035.2	hg19	CCDS11412.1																																																																																				0.522	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1	NM_001096		T	40054090	C	T	40054090	2	4	768	1	0	0	0	0	0	0	0	1	143	755	27	1		1	ACLY	17	40054090	Silent	SNP	C	TCGA-MH-A856-01A-11D-A34Z-10	3188315	40054090	41141120	60	45385											
CABLES1	91768	hgsc.bcm.edu	37	18	20793942	20793942	+	Splice_Site	SNP	A	A	G			TCGA-MH-A856-01A-11D-A34Z-10	TCGA-MH-A856-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	08268f2c-7eb1-4f12-8ef8-7878585d4e39	e6f69dd8-8606-463e-a198-de6007153945	g.chr18:20793942A>G	ENST00000256925.7	+	4	1012	c.1012A>G	c.(1012-1014)Ata>Gta	p.I338V	CABLES1_ENST00000420687.2_Splice_Site_p.I73V|CABLES1_ENST00000585061.1_Intron|TMEM241_ENST00000450466.2_Intron|CABLES1_ENST00000400473.2_Splice_Site_p.I11V	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1	338	Interacts with CDK3. {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)					ATTTTTTAGAATAGTCCTTAT	0.348																																																0													82	75	77					18																	20793942		1857	4091	5948	SO:0001630	splice_region_variant	91768			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.1011-1A>G	chr18.hg19:g.20793942A>G			B4DK60|Q8N3Y8|Q8NA22|Q9BTG1	Missense_Mutation	SNP	ENST00000256925.7	hg19	CCDS42417.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.339421	0.81911	.	.	ENSG00000134508	ENST00000400473;ENST00000256925;ENST00000420687	T;T;T	0.49432	0.78;0.78;0.82	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.62282	0.2415	L	0.56280	1.765	0.80722	D	1	P;D	0.59357	0.65;0.985	P;D	0.67548	0.743;0.952	T	0.57631	-0.7778	10	0.27082	T	0.32	-17.3786	15.8255	0.78703	1.0:0.0:0.0:0.0	.	73;338	Q8TDN4-2;Q8TDN4	.;CABL1_HUMAN	V	11;338;73	ENSP00000383321:I11V;ENSP00000256925:I338V;ENSP00000413851:I73V	ENSP00000256925:I338V	I	+	1	0	CABLES1	19047940	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.722000	0.91452	2.224000	0.72417	0.477000	0.44152	ATA		0.348	CABLES1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445198.2	NM_138375	Missense_Mutation	G	20793942	A	G	20793942	5	3	768	1	0	0	0	0	0	0	1	0	2531	115	4	3	1080	3	CABLES1	18	20793942	Splice_Site	SNP	A	TCGA-MH-A856-01A-11D-A34Z-10		20793942	57283306	61	45386											
EFNA2	1943	hgsc.bcm.edu	37	19	1295670	1295670	+	Silent	SNP	C	C	T	rs561395362		TCGA-MH-A856-01A-11D-A34Z-10	TCGA-MH-A856-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	08268f2c-7eb1-4f12-8ef8-7878585d4e39	e6f69dd8-8606-463e-a198-de6007153945	g.chr19:1295670C>T	ENST00000215368.2	+	2	282	c.267C>T	c.(265-267)taC>taT	p.Y89Y	MUM1_ENST00000344663.3_Intron	NM_001405.3	NP_001396.2	O43921	EFNA2_HUMAN	ephrin-A2	89	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				axon guidance (GO:0007411)|bone remodeling (GO:0046849)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|olfactory bulb development (GO:0021772)|osteoclast differentiation (GO:0030316)	anchored component of membrane (GO:0031225)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)			lung(2)	2		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)		TGGAGCACTACGTGCTGTACA	0.706													C|||	1	0.000199681	0.0	0.0	5008	,	,		8346	0.0		0.0	False		,,,				2504	0.001															0													25	21	22					19																	1295670		2198	4290	6488	SO:0001819	synonymous_variant	1943				CCDS12061.1	19p13	2011-03-09			ENSG00000099617	ENSG00000099617		"Ephrins"	3222	protein-coding gene	gene with protein product		602756		EPLG6			Standard	NM_001405		Approved	ELF-1, LERK6	uc002lry.2	O43921		ENST00000215368.2:c.267C>T	chr19.hg19:g.1295670C>T			O76020	Silent	SNP	ENST00000215368.2	hg19	CCDS12061.1																																																																																				0.706	EFNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450016.1	NM_001405		T	1295670	C	T	1295670	2	4	768	1	0	0	0	0	0	0	0	1	4953	547	19	1		1	EFNA2	19	1295670	Silent	SNP	C	TCGA-MH-A856-01A-11D-A34Z-10		1295670	57833313	62	45387											
DAZAP1	26528	hgsc.bcm.edu	37	19	1428952	1428953	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-MH-A856-01A-11D-A34Z-10	TCGA-MH-A856-10A-01D-A34Z-10	GG	GG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	08268f2c-7eb1-4f12-8ef8-7878585d4e39	e6f69dd8-8606-463e-a198-de6007153945	g.chr19:1428952_1428953delGG	ENST00000233078.4	+	8	819_820	c.658_659delGG	c.(658-660)ggcfs	p.G220fs	DAZAP1_ENST00000336761.6_Frame_Shift_Del_p.G220fs	NM_018959.2	NP_061832.2	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1	220					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|maternal placenta development (GO:0001893)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		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)		TGGCTGGGCAGGCCAGCCCCCG	0.688																																																0																																										SO:0001589	frameshift_variant	26528				CCDS12065.1, CCDS12066.1	19p13.3	2013-07-16			ENSG00000071626	ENSG00000071626		"RNA binding motif (RRM) containing"	2683	protein-coding gene	gene with protein product	"deleted in azoospermia associated protein 1"	607430				10857750, 23658607	Standard	XM_005259530		Approved	MGC19907	uc002lsn.3	Q96EP5		ENST00000233078.4:c.658_659delGG	chr19.hg19:g.1428952_1428953delGG	ENSP00000233078:p.Gly220fs		Q96MJ3|Q9NRR9	Frame_Shift_Del	DEL	ENST00000233078.4	hg19	CCDS12065.1																																																																																				0.688	DAZAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449522.3	NM_170711		-	1428953	GG	-	1428952	7	5	768	1	0	1	0	1	0	0	0	0	4246	1000	35	0	688	0	DAZAP1	19	1428952	Frame_Shift_Del	DEL	GG	TCGA-MH-A856-01A-11D-A34Z-10	133282	1428952	57700031	63	45388											
KDM4B	23030	hgsc.bcm.edu	37	19	5039997	5039997	+	Missense_Mutation	SNP	T	T	C			TCGA-MH-A856-01A-11D-A34Z-10	TCGA-MH-A856-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	08268f2c-7eb1-4f12-8ef8-7878585d4e39	e6f69dd8-8606-463e-a198-de6007153945	g.chr19:5039997T>C	ENST00000159111.4	+	4	510	c.292T>C	c.(292-294)Tac>Cac	p.Y98H	KDM4B_ENST00000536461.1_Missense_Mutation_p.Y98H|KDM4B_ENST00000381759.4_Missense_Mutation_p.Y98H	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	98					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						AGTGGGCGAGTACCGCCGCCT	0.697																																																0													45	40	42					19																	5039997		2203	4300	6503	SO:0001583	missense	23030			AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"Chromatin-modifying enzymes / K-demethylases", "Tudor domain containing"	29136	protein-coding gene	gene with protein product	"tudor domain containing 14B"	609765	"jumonji domain containing 2B"	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.292T>C	chr19.hg19:g.5039997T>C	ENSP00000159111:p.Tyr98His		B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Missense_Mutation	SNP	ENST00000159111.4	hg19	CCDS12138.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.505972	0.85282	.	.	ENSG00000127663	ENST00000159111;ENST00000381759;ENST00000536461	T;T;T	0.50277	0.75;0.75;0.75	4.04	4.04	0.47022	.	0.075962	0.56097	D	0.000036	T	0.67496	0.2899	M	0.76838	2.35	0.58432	D	0.999999	D;D;D	0.67145	0.996;0.993;0.994	D;D;D	0.74348	0.983;0.951;0.92	T	0.73170	-0.4067	10	0.87932	D	0	-36.4153	13.4363	0.61086	0.0:0.0:0.0:1.0	.	98;98;98	F5GX28;O94953-2;O94953	.;.;KDM4B_HUMAN	H	98	ENSP00000159111:Y98H;ENSP00000371178:Y98H;ENSP00000440495:Y98H	ENSP00000159111:Y98H	Y	+	1	0	KDM4B	4990997	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.730000	0.84881	1.817000	0.53016	0.379000	0.24179	TAC		0.697	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450558.1	NM_015015		C	5039997	T	C	5039997	3	2	768	1	0	0	0	0	1	0	0	0	8131	1638	57	3	298	3	KDM4B	19	5039997	Missense_Mutation	SNP	T	TCGA-MH-A856-01A-11D-A34Z-10	3611045	5039997	54088986	64	45389											
ANGPTL4	51129	hgsc.bcm.edu	37	19	8438718	8438718	+	Missense_Mutation	SNP	T	T	A			TCGA-MH-A856-01A-11D-A34Z-10	TCGA-MH-A856-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	08268f2c-7eb1-4f12-8ef8-7878585d4e39	e6f69dd8-8606-463e-a198-de6007153945	g.chr19:8438718T>A	ENST00000301455.2	+	7	1340	c.1169T>A	c.(1168-1170)cTg>cAg	p.L390Q	ANGPTL4_ENST00000541807.1_Missense_Mutation_p.L223Q|RAB11B-AS1_ENST00000597407.1_RNA|ANGPTL4_ENST00000393962.2_Missense_Mutation_p.L352Q|RAB11B-AS1_ENST00000597785.1_RNA|RAB11B-AS1_ENST00000593581.1_RNA	NM_139314.1	NP_647475.1	Q9BY76	ANGL4_HUMAN	angiopoietin-like 4	390	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cellular lipid metabolic process (GO:0044255)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of lipoprotein lipase activity (GO:0051005)|positive regulation of angiogenesis (GO:0045766)|protein homooligomerization (GO:0051260)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	enzyme inhibitor activity (GO:0004857)			large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						TACTACCCGCTGCAGGCCACC	0.622																																																0													67	75	72					19																	8438718		2203	4300	6503	SO:0001583	missense	51129			AF202636	CCDS12200.1, CCDS42493.1	19p13.3	2013-10-07				ENSG00000167772		"Fibrinogen C domain containing"	16039	protein-coding gene	gene with protein product	"fasting-induced adipose factor", "hepatic angiopoietin-related protein", "PPARG angiopoietin related protein", "hepatic fibrinogen/angiopoietin-related protein", "peroxisome proliferator-activated receptor (PPAR) gamma induced angiopoietin-related protein", "angiopoietin-related protein 4"	605910				10698685, 10866690, 23960078	Standard	NM_139314		Approved	pp1158, PGAR, ARP4, HFARP, FIAF, NL2	uc002mjq.1	Q9BY76		ENST00000301455.2:c.1169T>A	chr19.hg19:g.8438718T>A	ENSP00000301455:p.Leu390Gln		A8MY84|B4E089|D6W670|F5H0I2|Q53HQ6|Q53HU1|Q6UXN0|Q9HBV4|Q9NZU4|Q9Y5B3	Missense_Mutation	SNP	ENST00000301455.2	hg19	CCDS12200.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.237776	0.79800	.	.	ENSG00000167772	ENST00000301455;ENST00000393962;ENST00000541807	T;T;T	0.80393	-1.37;-1.37;-1.37	5.62	5.62	0.85841	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.000000	0.64402	D	0.000004	D	0.92080	0.7490	M	0.93550	3.43	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.93951	0.7232	10	0.87932	D	0	.	14.6557	0.68831	0.0:0.0:0.0:1.0	.	352;390	A8MY84;Q9BY76	.;ANGL4_HUMAN	Q	390;352;223	ENSP00000301455:L390Q;ENSP00000377534:L352Q;ENSP00000439833:L223Q	ENSP00000301455:L390Q	L	+	2	0	ANGPTL4	8344718	1.000000	0.71417	0.934000	0.37439	0.634000	0.38068	7.489000	0.81451	2.136000	0.66102	0.533000	0.62120	CTG		0.622	ANGPTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460322.1	NM_139314		A	8438718	T	A	8438718	3	1	768	1	0	0	0	0	1	0	0	0	616	1580	55	5	1195	5	ANGPTL4	19	8438718	Missense_Mutation	SNP	T	TCGA-MH-A856-01A-11D-A34Z-10	3398721	8438718	50690265	65	45390											
RAD23A	5886	hgsc.bcm.edu	37	19	13060221	13060221	+	Splice_Site	DEL	A	A	-			TCGA-MH-A856-01A-11D-A34Z-10	TCGA-MH-A856-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	08268f2c-7eb1-4f12-8ef8-7878585d4e39	e6f69dd8-8606-463e-a198-de6007153945	g.chr19:13060221delA	ENST00000586534.1	+	7	873	c.812delA	c.(811-813)cag>cg	p.Q272fs	RAD23A_ENST00000588826.2_3'UTR|RAD23A_ENST00000541222.1_Splice_Site_p.Q107fs|RAD23A_ENST00000592268.1_Splice_Site_p.Q271fs|RAD23A_ENST00000316856.3_Splice_Site_p.Q271fs			P54725	RD23A_HUMAN	RAD23 homolog A (S. cerevisiae)	272					nucleotide-excision repair (GO:0006289)|positive regulation of viral genome replication (GO:0045070)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	damaged DNA binding (GO:0003684)|polyubiquitin binding (GO:0031593)|single-stranded DNA binding (GO:0003697)|ubiquitin-specific protease binding (GO:1990381)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						CAGCTTTTACAGGTGTGGTCC	0.602								Nucleotide excision repair (NER)																																								0													53	57	56					19																	13060221		2203	4300	6503	SO:0001630	splice_region_variant	5886				CCDS12289.1, CCDS59357.1, CCDS59358.1	19p13.2	2008-07-17	2001-11-28			ENSG00000179262			9812	protein-coding gene	gene with protein product	"RAD23, yeast homolog, A"	600061	"RAD23 (S. cerevisiae) homolog A"			7851894	Standard	NM_005053		Approved	HHR23A, MGC111083	uc002mvw.2	P54725		ENST00000586534.1:c.813+1A>-	chr19.hg19:g.13060221delA			K7ESE3|Q59EU8|Q5M7Z1	Frame_Shift_Del	DEL	ENST00000586534.1	hg19	CCDS12289.1																																																																																				0.602	RAD23A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452752.1	NM_005053	Frame_Shift_Del	-	13060221	A	-	13060221	8	5	768	1	0	1	0	1	0	0	1	0	12988	202	7	0	838	0	RAD23A	19	13060221	Splice_Site	DEL	A	TCGA-MH-A856-01A-11D-A34Z-10	4621503	13060221	46068762	66	45391											
RASGRP4	115727	hgsc.bcm.edu	37	19	38903684	38903684	+	Silent	SNP	C	C	T			TCGA-MH-A856-01A-11D-A34Z-10	TCGA-MH-A856-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	08268f2c-7eb1-4f12-8ef8-7878585d4e39	e6f69dd8-8606-463e-a198-de6007153945	g.chr19:38903684C>T	ENST00000587738.1	-	12	1492	c.1422G>A	c.(1420-1422)gtG>gtA	p.V474V	RASGRP4_ENST00000586305.1_Silent_p.V460V|RASGRP4_ENST00000426920.2_Silent_p.V285V|RASGRP4_ENST00000433821.2_Silent_p.V382V|RASGRP4_ENST00000587753.1_Silent_p.V405V|RASGRP4_ENST00000293062.9_Silent_p.V377V|RASGRP4_ENST00000454404.2_Silent_p.V440V			Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	474	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.				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)			AATTCTTGAACACAGACTTCA	0.532																																																0													50	53	52					19																	38903684		1927	4137	6064	SO:0001819	synonymous_variant	115727			AY048119	CCDS46068.1, CCDS54262.1, CCDS54263.1, CCDS54264.1	19q13.1	2013-01-10						"EF-hand domain containing"	18958	protein-coding gene	gene with protein product		607320				11956218	Standard	NM_170604		Approved		uc021uub.1	Q8TDF6		ENST00000587738.1:c.1422G>A	chr19.hg19:g.38903684C>T			A6H8M4|C0LTP2|C0LTP3|C0LTP4|C0LTP5|C0LTP7|C9J416|C9JHZ1|Q8N858|Q96QN5|Q96QN6|Q96QN7	Silent	SNP	ENST00000587738.1	hg19	CCDS46068.1																																																																																				0.532	RASGRP4-013	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460540.1	NM_170604		T	38903684	C	T	38903684	2	4	768	1	0	0	0	0	0	0	0	1	13083	465	17	2		2	RASGRP4	19	38903684	Silent	SNP	C	TCGA-MH-A856-01A-11D-A34Z-10	25843463	38903684	20225299	67	45392											
DLGAP4	22839	hgsc.bcm.edu	37	20	35060886	35060886	+	Missense_Mutation	SNP	A	A	G			TCGA-MH-A856-01A-11D-A34Z-10	TCGA-MH-A856-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	08268f2c-7eb1-4f12-8ef8-7878585d4e39	e6f69dd8-8606-463e-a198-de6007153945	g.chr20:35060886A>G	ENST00000373907.2	+	2	965	c.766A>G	c.(766-768)Acc>Gcc	p.T256A	DLGAP4_ENST00000373913.3_Missense_Mutation_p.T256A|DLGAP4_ENST00000339266.5_Missense_Mutation_p.T256A|DLGAP4_ENST00000401952.2_Missense_Mutation_p.T256A			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	256					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)				CATGCTCAAAACCACCAAGAA	0.627																																																0													69	66	67					20																	35060886		2203	4300	6503	SO:0001583	missense	22839			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.766A>G	chr20.hg19:g.35060886A>G	ENSP00000363014:p.Thr256Ala		E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Missense_Mutation	SNP	ENST00000373907.2	hg19		.	.	.	.	.	.	.	.	.	.	A	2.470	-0.322180	0.05350	.	.	ENSG00000080845	ENST00000373913;ENST00000401952;ENST00000373907;ENST00000339266	T;T;T;T	0.15834	2.39;2.39;2.39;2.39	5.37	-1.76	0.08006	.	0.677891	0.15516	N	0.258311	T	0.04952	0.0133	N	0.04018	-0.295	0.25098	N	0.990804	B	0.02656	0.0	B	0.01281	0.0	T	0.40496	-0.9560	10	0.09590	T	0.72	.	4.2281	0.10590	0.3059:0.0:0.3662:0.3279	.	256	Q9Y2H0-1	.	A	256	ENSP00000363023:T256A;ENSP00000384954:T256A;ENSP00000363014:T256A;ENSP00000341633:T256A	ENSP00000341633:T256A	T	+	1	0	DLGAP4	34494300	0.992000	0.36948	0.904000	0.35570	0.983000	0.72400	0.322000	0.19576	-0.216000	0.10048	-0.252000	0.11476	ACC		0.627	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2	NM_014902		G	35060886	A	G	35060886	3	3	768	1	0	0	0	0	1	0	0	0	4564	43	2	3	768	3	DLGAP4	20	35060886	Missense_Mutation	SNP	A	TCGA-MH-A856-01A-11D-A34Z-10		35060886	27964634	68	45393											
MTOR	2475	hgsc.bcm.edu	37	1	11174395	11174395	+	Missense_Mutation	SNP	A	A	T			TCGA-MH-A857-01A-11D-A34Z-10	TCGA-MH-A857-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0299221a-3d27-41da-acfa-e3d9a0bf59cf	66cc7636-90d2-4545-99c6-ea90745ba8b1	g.chr1:11174395A>T	ENST00000361445.4	-	53	7356	c.7280T>A	c.(7279-7281)cTg>cAg	p.L2427Q	MTOR_ENST00000376838.1_Missense_Mutation_p.L632Q	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2427	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)	CCTCCAGTTCAGCAAGGGGTC	0.537																																																0													135	115	122					1																	11174395		2203	4300	6503	SO:0001583	missense	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.7280T>A	chr1.hg19:g.11174395A>T	ENSP00000354558:p.Leu2427Gln		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	hg19	CCDS127.1	.	.	.	.	.	.	.	.	.	.	A	27.6	4.842624	0.91197	.	.	ENSG00000198793	ENST00000361445;ENST00000376838;ENST00000455339	T;T;T	0.80033	-1.33;-1.33;-1.33	5.89	5.89	0.94794	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	D	0.89966	0.6868	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.91209	0.4997	10	0.87932	D	0	-16.8498	15.497	0.75662	1.0:0.0:0.0:0.0	.	2427	P42345	MTOR_HUMAN	Q	2427;632;83	ENSP00000354558:L2427Q;ENSP00000366034:L632Q;ENSP00000398745:L83Q	ENSP00000354558:L2427Q	L	-	2	0	MTOR	11096982	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.923000	0.92808	2.254000	0.74563	0.533000	0.62120	CTG		0.537	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		T	11174395	A	T	11174395	3	4	769	1	0	0	0	0	1	0	0	0	9956	188	7	5	393	5	MTOR	1	11174395	Missense_Mutation	SNP	A	TCGA-MH-A857-01A-11D-A34Z-10		11174395	238076226	1	45394											
DENND2C	163259	hgsc.bcm.edu	37	1	115130431	115130431	+	Silent	SNP	G	G	T			TCGA-MH-A857-01A-11D-A34Z-10	TCGA-MH-A857-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0299221a-3d27-41da-acfa-e3d9a0bf59cf	66cc7636-90d2-4545-99c6-ea90745ba8b1	g.chr1:115130431G>T	ENST00000393274.1	-	19	3199	c.2574C>A	c.(2572-2574)tcC>tcA	p.S858S	DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393277.1_Silent_p.S746S|DENND2C_ENST00000393276.3_Silent_p.S801S	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	858	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)		GTACACTTCGGGAGGTGTGGG	0.478																																																0													104	87	93					1																	115130431		2203	4300	6503	SO:0001819	synonymous_variant	163259				CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"DENN/MADD domain containing"	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.2574C>A	chr1.hg19:g.115130431G>T			B1AL26|Q5TCX6|Q6P3R3	Silent	SNP	ENST00000393274.1	hg19	CCDS58018.1																																																																																				0.478	DENND2C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000314822.1	NM_198459		T	115130431	G	T	115130431	2	4	769	1	0	0	0	0	0	0	0	1	4432	1219	43	4		4	DENND2C	1	115130431	Silent	SNP	G	TCGA-MH-A857-01A-11D-A34Z-10	103956036	115130431	134120190	2	45395											
OBSCN	84033	hgsc.bcm.edu	37	1	228547456	228547466	+	Intron	DEL	GCAGGCCGGAG	GCAGGCCGGAG	-	rs377484630|rs370692094		TCGA-MH-A857-01A-11D-A34Z-10	TCGA-MH-A857-10A-01D-A34Z-10	GCAGGCCGGAG	GCAGGCCGGAG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0299221a-3d27-41da-acfa-e3d9a0bf59cf	66cc7636-90d2-4545-99c6-ea90745ba8b1	g.chr1:228547456_228547466delGCAGGCCGGAG	ENST00000422127.1	+	80	18705				OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000366709.4_Frame_Shift_Del_p.RRPE3407fs|OBSCN_ENST00000284548.11_Frame_Shift_Del_p.RRPE6288fs|OBSCN_ENST00000366707.4_Intron	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)				GGCCAGCCCCGCAGGCCGGAGGCAGAACCAG	0.706																																																0																																										SO:0001627	intron_variant	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.18662-2811GCAGGCCGGAG>-	chr1.hg19:g.228547456_228547466delGCAGGCCGGAG			Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Frame_Shift_Del	DEL	ENST00000422127.1	hg19	CCDS58065.1																																																																																				0.706	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		-	228547466	GCAGGCCGGAG	-	228547456	6	5	769	0	1	1	0	1	0	0	0	0	10814	1087	38	0		0	OBSCN	1	228547456	Intron	DEL	GCAGGCCGGAG	TCGA-MH-A857-01A-11D-A34Z-10	113417025	228547456	20703165	3	45396											
LYST	1130	hgsc.bcm.edu	37	1	235827769	235827769	+	Missense_Mutation	SNP	C	C	A			TCGA-MH-A857-01A-11D-A34Z-10	TCGA-MH-A857-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0299221a-3d27-41da-acfa-e3d9a0bf59cf	66cc7636-90d2-4545-99c6-ea90745ba8b1	g.chr1:235827769C>A	ENST00000389794.3	-	51	11365	c.11191G>T	c.(11191-11193)Gta>Tta	p.V3731L	LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.V3731L			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3731					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)			TCTTACCTTACAATTCCATTT	0.373																																																0													66	65	66					1																	235827769		2203	4300	6503	SO:0001583	missense	1130			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.11191G>T	chr1.hg19:g.235827769C>A	ENSP00000374444:p.Val3731Leu		O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	hg19	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	C	34	5.390459	0.95988	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.32988	1.43;1.43	5.98	5.98	0.97165	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	0.51176	0.1659	L	0.46614	1.455	0.80722	D	1	D	0.69078	0.997	D	0.66979	0.948	T	0.41233	-0.9520	10	0.59425	D	0.04	.	20.4581	0.99154	0.0:1.0:0.0:0.0	.	3731	Q99698	LYST_HUMAN	L	3731	ENSP00000374444:V3731L;ENSP00000374443:V3731L	ENSP00000374443:V3731L	V	-	1	0	LYST	233894392	1.000000	0.71417	0.994000	0.49952	0.950000	0.60333	7.818000	0.86416	2.835000	0.97688	0.650000	0.86243	GTA		0.373	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			A	235827769	C	A	235827769	3	1	769	1	0	0	0	0	1	0	0	0	9130	478	17	4	226	4	LYST	1	235827769	Missense_Mutation	SNP	C	TCGA-MH-A857-01A-11D-A34Z-10	7280313	235827769	13422852	4	45397											
B3GNT2	10678	hgsc.bcm.edu	37	2	62449390	62449390	+	Missense_Mutation	SNP	G	G	A			TCGA-MH-A857-01A-11D-A34Z-10	TCGA-MH-A857-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0299221a-3d27-41da-acfa-e3d9a0bf59cf	66cc7636-90d2-4545-99c6-ea90745ba8b1	g.chr2:62449390G>A	ENST00000301998.4	+	2	287	c.35G>A	c.(34-36)gGt>gAt	p.G12D	B3GNT2_ENST00000405767.1_Missense_Mutation_p.G12D	NM_006577.5	NP_006568.2	Q9NY97	B3GN2_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2	12					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)			AAGTTGTTGGGTATCCTGATG	0.343																																																0													80	81	81					2																	62449390		2203	4300	6503	SO:0001583	missense	10678			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.35G>A	chr2.hg19:g.62449390G>A	ENSP00000305595:p.Gly12Asp		Q54AC1|Q9NQQ9|Q9NQR0|Q9NUT9	Missense_Mutation	SNP	ENST00000301998.4	hg19	CCDS1870.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.688762	0.68271	.	.	ENSG00000170340	ENST00000301998;ENST00000405767	T;T	0.28895	1.59;1.59	6.02	6.02	0.97574	.	0.540943	0.20145	N	0.098292	T	0.53302	0.1788	M	0.72118	2.19	0.54753	D	0.999986	D	0.60575	0.988	P	0.56398	0.797	T	0.51498	-0.8698	10	0.66056	D	0.02	.	20.5407	0.99260	0.0:0.0:1.0:0.0	.	12	Q9NY97	B3GN2_HUMAN	D	12	ENSP00000305595:G12D;ENSP00000384692:G12D	ENSP00000305595:G12D	G	+	2	0	B3GNT2	62302894	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.305000	0.51873	2.865000	0.98341	0.655000	0.94253	GGT		0.343	B3GNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251606.2	NM_006577		A	62449390	G	A	62449390	3	1	769	1	0	0	0	0	1	0	0	0	1257	1261	44	2	37	2	B3GNT2	2	62449390	Missense_Mutation	SNP	G	TCGA-MH-A857-01A-11D-A34Z-10		62449390	180749983	5	45398											
EFHB	151651	hgsc.bcm.edu	37	3	19947241	19947250	+	Splice_Site	DEL	CCTGTGGAAA	CCTGTGGAAA	-			TCGA-MH-A857-01A-11D-A34Z-10	TCGA-MH-A857-10A-01D-A34Z-10	CCTGTGGAAA	CCTGTGGAAA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0299221a-3d27-41da-acfa-e3d9a0bf59cf	66cc7636-90d2-4545-99c6-ea90745ba8b1	g.chr3:19947241_19947250delCCTGTGGAAA	ENST00000295824.9	-	6	1450	c.1289delTTTCCACAGG	c.(1288-1290)gtt>gt	p.V430fs	EFHB_ENST00000344838.4_Splice_Site_p.V300fs|EFHB_ENST00000498089.1_5'UTR	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	430							calcium ion binding (GO:0005509)			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						CTTTGCCTCTCCTGTGGAAAAAGAAAGGAA	0.381																																																0																																										SO:0001630	splice_region_variant	151651			AK122616	CCDS33715.2	3p24.3	2014-07-18			ENSG00000163576	ENSG00000163576		"EF-hand domain containing"	26330	protein-coding gene	gene with protein product	"cilia and flagella associated protein 21"					12477932	Standard	NM_144715		Approved	FLJ25200, CFAP21	uc003cbl.4	Q8N7U6	OTTHUMG00000150505	ENST00000295824.9:c.1289-1TTTCCACAGG>-	chr3.hg19:g.19947241_19947250delCCTGTGGAAA			A6ND25|A8MPR3|Q6ZWK9|Q8IV58|Q96LQ6	Frame_Shift_Del	DEL	ENST00000295824.9	hg19	CCDS33715.2																																																																																				0.381	EFHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318673.2	NM_144715	Frame_Shift_Del	-	19947250	CCTGTGGAAA	-	19947241	8	5	769	1	0	1	0	1	0	0	1	0	4947	869	30	0	1244	0	EFHB	3	19947241	Splice_Site	DEL	CCTGTGGAAA	TCGA-MH-A857-01A-11D-A34Z-10		19947241	178075189	6	45399											
ST3GAL6	10402	hgsc.bcm.edu	37	3	98512536	98512536	+	Silent	SNP	G	G	T			TCGA-MH-A857-01A-11D-A34Z-10	TCGA-MH-A857-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0299221a-3d27-41da-acfa-e3d9a0bf59cf	66cc7636-90d2-4545-99c6-ea90745ba8b1	g.chr3:98512536G>T	ENST00000483910.1	+	10	1216	c.927G>T	c.(925-927)gtG>gtT	p.V309V	ST3GAL6_ENST00000265261.6_Silent_p.V191V|ST3GAL6_ENST00000394162.1_Silent_p.V309V|ST3GAL6_ENST00000462152.1_3'UTR	NM_001271146.1	NP_001258075.1	Q9Y274	SIA10_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	309					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						ATCACAATGTGACTGCAGAGC	0.353																																																0													115	120	118					3																	98512536		2203	4300	6503	SO:0001819	synonymous_variant	10402			AF119391	CCDS2933.1, CCDS59452.1, CCDS74968.1	3q12.2	2013-03-01	2005-02-07	2005-02-07	ENSG00000064225	ENSG00000064225		"Sialyltransferases"	18080	protein-coding gene	gene with protein product		607156	"sialyltransferase 10 (alpha-2,3-sialyltransferase VI)"	SIAT10		10206952	Standard	NM_006100		Approved	ST3GALVI	uc010hpd.4	Q9Y274	OTTHUMG00000159047	ENST00000483910.1:c.927G>T	chr3.hg19:g.98512536G>T			B2RCH2|B3KMI1|D3DN39|F8W6U0	Silent	SNP	ENST00000483910.1	hg19	CCDS2933.1																																																																																				0.353	ST3GAL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353013.2	NM_006100		T	98512536	G	T	98512536	2	4	769	1	0	0	0	0	0	0	0	1	15224	1277	45	4		4	ST3GAL6	3	98512536	Silent	SNP	G	TCGA-MH-A857-01A-11D-A34Z-10	78565295	98512536	99509894	7	45400											
DSPP	1834	hgsc.bcm.edu	37	4	88537513	88537513	+	Missense_Mutation	SNP	A	A	C	rs112275895		TCGA-MH-A857-01A-11D-A34Z-10	TCGA-MH-A857-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0299221a-3d27-41da-acfa-e3d9a0bf59cf	66cc7636-90d2-4545-99c6-ea90745ba8b1	g.chr4:88537513A>C	ENST00000282478.7	+	4	3732	c.3699A>C	c.(3697-3699)gaA>gaC	p.E1233D	DSPP_ENST00000399271.1_Missense_Mutation_p.E1233D|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1233	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		acagcaatgaaagcagcgaca	0.547																																																0																																										SO:0001583	missense	1834			AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3699A>C	chr4.hg19:g.88537513A>C	ENSP00000282478:p.Glu1233Asp		A8MUI0|O95815	Missense_Mutation	SNP	ENST00000282478.7	hg19	CCDS43248.1	.	.	.	.	.	.	.	.	.	.	A	0.010	-1.785366	0.00628	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.88741	-2.42;-2.42	2.61	-5.21	0.02815	.	.	.	.	.	T	0.57213	0.2038	N	0.01048	-1.04	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.57347	-0.7827	9	0.02654	T	1	.	0.7125	0.00926	0.2623:0.1881:0.1298:0.4197	.	1233	Q9NZW4	DSPP_HUMAN	D	1233	ENSP00000382213:E1233D;ENSP00000282478:E1233D	ENSP00000282478:E1233D	E	+	3	2	DSPP	88756537	0.003000	0.15002	0.000000	0.03702	0.000000	0.00434	-2.769000	0.00780	-2.252000	0.00699	-3.496000	0.00033	GAA		0.547	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		C	88537513	A	C	88537513	3	2	769	1	0	0	0	0	1	0	0	0	4784	11	1	5	3713	5	DSPP	4	88537513	Missense_Mutation	SNP	A	TCGA-MH-A857-01A-11D-A34Z-10		88537513	102616763	8	45401											
PCDHA10	56139	hgsc.bcm.edu	37	5	140236456	140236456	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MH-A857-01A-11D-A34Z-10	TCGA-MH-A857-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0299221a-3d27-41da-acfa-e3d9a0bf59cf	66cc7636-90d2-4545-99c6-ea90745ba8b1	g.chr5:140236456G>T	ENST00000307360.5	+	1	823	c.823G>T	c.(823-825)Gaa>Taa	p.E275*	PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Nonsense_Mutation_p.E275*|PCDHA4_ENST00000512229.2_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	275	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(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)			AATAAACAAGGAAATGATGTA	0.363																																																0													76	75	75					5																	140236456		2196	4270	6466	SO:0001587	stop_gained	56139			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.823G>T	chr5.hg19:g.140236456G>T	ENSP00000304234:p.Glu275*		A1L493|O75280|Q9NRU2	Nonsense_Mutation	SNP	ENST00000307360.5	hg19	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	G	36	5.642740	0.96704	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	.	.	.	4.29	4.29	0.51040	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	17.2947	0.87167	0.0:0.0:1.0:0.0	.	.	.	.	X	275	.	ENSP00000304234:E275X	E	+	1	0	PCDHA10	140216640	0.849000	0.29639	0.913000	0.36048	0.983000	0.72400	1.747000	0.38298	2.383000	0.81215	0.561000	0.74099	GAA		0.363	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		T	140236456	G	T	140236456	4	4	769	1	0	0	0	0	0	1	0	0	11522	1175	41	4	825	4	PCDHA10	5	140236456	Nonsense_Mutation	SNP	G	TCGA-MH-A857-01A-11D-A34Z-10		140236456	40678804	9	45402											
ERGIC1	57222	hgsc.bcm.edu	37	5	172362237	172362237	+	Missense_Mutation	SNP	G	G	T			TCGA-MH-A857-01A-11D-A34Z-10	TCGA-MH-A857-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0299221a-3d27-41da-acfa-e3d9a0bf59cf	66cc7636-90d2-4545-99c6-ea90745ba8b1	g.chr5:172362237G>T	ENST00000393784.3	+	9	828	c.689G>T	c.(688-690)tGg>tTg	p.W230L		NM_001031711.2	NP_001026881.1	Q969X5	ERGI1_HUMAN	endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1	230					ER to Golgi vesicle-mediated transport (GO:0006888)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)	9	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCTGCAATCTGGTTCCGCTAC	0.582																																																0													91	84	86					5																	172362237		2203	4300	6503	SO:0001583	missense	57222			AF267855	CCDS34292.1	5q35.1	2009-11-06			ENSG00000113719	ENSG00000113719			29205	protein-coding gene	gene with protein product						10574461, 15308636	Standard	NM_001031711		Approved	ERGIC32, ERGIC-32, KIAA1181, NET24	uc003mbw.4	Q969X5	OTTHUMG00000130520	ENST00000393784.3:c.689G>T	chr5.hg19:g.172362237G>T	ENSP00000377374:p.Trp230Leu		Q9H0L0|Q9H2J2|Q9ULN9	Missense_Mutation	SNP	ENST00000393784.3	hg19	CCDS34292.1	.	.	.	.	.	.	.	.	.	.	G	35	5.463136	0.96257	.	.	ENSG00000113719	ENST00000393784	.	.	.	5.88	5.88	0.94601	Domain of unknown function DUF1692 (1);	0.000000	0.85682	D	0.000000	D	0.83326	0.5230	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	0.985;1.0	P;D	0.91635	0.783;0.999	D	0.84050	0.0369	9	0.72032	D	0.01	-17.8113	19.8311	0.96636	0.0:0.0:1.0:0.0	.	175;230	B4E0N6;Q969X5	.;ERGI1_HUMAN	L	230	.	ENSP00000377374:W230L	W	+	2	0	ERGIC1	172294843	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.141000	0.94612	2.790000	0.95986	0.591000	0.81541	TGG		0.582	ERGIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252938.3	NM_020462		T	172362237	G	T	172362237	3	4	769	1	0	0	0	0	1	0	0	0	5225	1357	47	4	723	4	ERGIC1	5	172362237	Missense_Mutation	SNP	G	TCGA-MH-A857-01A-11D-A34Z-10	32125781	172362237	8553023	10	45403											
CDSN	170679	hgsc.bcm.edu	37	6	31085252	31085252	+	Intron	SNP	C	C	T	rs370680006	byFrequency	TCGA-MH-A857-01A-11D-A34Z-10	TCGA-MH-A857-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0299221a-3d27-41da-acfa-e3d9a0bf59cf	66cc7636-90d2-4545-99c6-ea90745ba8b1	g.chr6:31085252C>T	ENST00000259881.9	+	1	61				CDSN_ENST00000376288.2_Missense_Mutation_p.R47H|PSORS1C1_ENST00000467107.1_3'UTR	NM_014068.2	NP_054787.2	Q9UIG5	PS1C1_HUMAN	psoriasis susceptibility 1 candidate 1											kidney(1)|ovary(2)|prostate(1)|skin(1)	5						GGAGGTGATACGCGTGGGGTC	0.567													C|||	2	0.000399361	0.0015	0.0	5008	,	,		18117	0.0		0.0	False		,,,				2504	0.0															0								C	HIS/ARG,	0,3564		0,0,1782	16	10	12		140,	4.9	0	6		12	1,7003		0,1,3501	no	missense,intron	CDSN,PSORS1C1	NM_001264.4,NM_014068.2	29,	0,1,5283	TT,TC,CC		0.0143,0.0,0.0095	probably-damaging,	47/530,	31085252	1,10567	1782	3502	5284	SO:0001627	intron_variant	1041			AB031479	CCDS34390.1	6p21.3	2014-01-28	2003-06-12		ENSG00000204540	ENSG00000204540			17202	protein-coding gene	gene with protein product		613525	"chromosome 6 open reading frame 16"	C6orf16			Standard	NM_014068		Approved	SEEK1	uc003nsl.2	Q9UIG5	OTTHUMG00000031077	ENST00000259881.9:c.-229+2584C>T	chr6.hg19:g.31085252C>T			B0V083|Q5ST21|Q86WJ8|Q86WJ9|Q96QC3	Missense_Mutation	SNP	ENST00000259881.9	hg19	CCDS34390.1	.	.	.	.	.	.	.	.	.	.	C	11.70	1.717543	0.30413	0.0	1.43E-4	ENSG00000204539	ENST00000376288	T	0.12672	2.66	4.93	4.93	0.64822	.	0.000000	0.42682	D	0.000671	T	0.18923	0.0454	L	0.55990	1.75	0.09310	N	1	D	0.71674	0.998	D	0.63703	0.917	T	0.01371	-1.1372	10	0.72032	D	0.01	-8.1812	13.9681	0.64221	0.0:1.0:0.0:0.0	.	47	Q15517	CDSN_HUMAN	H	47	ENSP00000365465:R47H	ENSP00000365465:R47H	R	-	2	0	CDSN	31193231	0.055000	0.20627	0.016000	0.15963	0.057000	0.15508	3.491000	0.53252	2.461000	0.83175	0.549000	0.68633	CGT		0.567	PSORS1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076110.3	NM_014068		T	31085252	C	T	31085252	1	4	769	0	1	0	0	0	0	0	0	0	3181	536	19	1		1	CDSN	6	31085252	Intron	SNP	C	TCGA-MH-A857-01A-11D-A34Z-10		31085252	140029815	11	45404											
NPC1L1	29881	hgsc.bcm.edu	37	7	44561797	44561797	+	Silent	SNP	G	G	A	rs267601517		TCGA-MH-A857-01A-11D-A34Z-10	TCGA-MH-A857-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0299221a-3d27-41da-acfa-e3d9a0bf59cf	66cc7636-90d2-4545-99c6-ea90745ba8b1	g.chr7:44561797G>A	ENST00000289547.4	-	11	2737	c.2682C>T	c.(2680-2682)ttC>ttT	p.F894F	NPC1L1_ENST00000546276.1_Intron|NPC1L1_ENST00000381160.3_Silent_p.F894F	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	894					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)	CCCCCACCTCGAAGTAGCGGT	0.552																																																0													58	56	57					7																	44561797		2203	4300	6503	SO:0001819	synonymous_variant	29881				CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"NPC1 (Niemann-Pick disease, type C1, gene)-like 1"			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.2682C>T	chr7.hg19:g.44561797G>A			A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Silent	SNP	ENST00000289547.4	hg19	CCDS5491.1																																																																																				0.552	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		A	44561797	G	A	44561797	2	1	769	1	0	0	0	0	0	0	0	1	10573	1049	37	1		1	NPC1L1	7	44561797	Silent	SNP	G	TCGA-MH-A857-01A-11D-A34Z-10		44561797	114576866	12	45405											
SEMA3E	9723	hgsc.bcm.edu	37	7	83037688	83037688	+	Silent	SNP	C	C	T			TCGA-MH-A857-01A-11D-A34Z-10	TCGA-MH-A857-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0299221a-3d27-41da-acfa-e3d9a0bf59cf	66cc7636-90d2-4545-99c6-ea90745ba8b1	g.chr7:83037688C>T	ENST00000307792.3	-	6	1133	c.666G>A	c.(664-666)ttG>ttA	p.L222L	SEMA3E_ENST00000427262.1_Silent_p.L162L	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	222	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)				CCTTACCTTTCAACAGACGCT	0.428																																																0													69	66	67					7																	83037688		2203	4300	6503	SO:0001819	synonymous_variant	9723			AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10727	protein-coding gene	gene with protein product	"M-sema H"	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.666G>A	chr7.hg19:g.83037688C>T			B4E1P1|Q75M94|Q75M97	Silent	SNP	ENST00000307792.3	hg19	CCDS34674.1																																																																																				0.428	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431		T	83037688	C	T	83037688	2	4	769	1	0	0	0	0	0	0	0	1	14034	825	29	2		2	SEMA3E	7	83037688	Silent	SNP	C	TCGA-MH-A857-01A-11D-A34Z-10	38475891	83037688	76100975	13	45406											
SVIL	6840	hgsc.bcm.edu	37	10	29818641	29818641	+	Missense_Mutation	SNP	C	C	T			TCGA-MH-A857-01A-11D-A34Z-10	TCGA-MH-A857-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0299221a-3d27-41da-acfa-e3d9a0bf59cf	66cc7636-90d2-4545-99c6-ea90745ba8b1	g.chr10:29818641C>T	ENST00000355867.4	-	12	2991	c.2239G>A	c.(2239-2241)Gca>Aca	p.A747T	SVIL_ENST00000375398.2_Missense_Mutation_p.A747T|SVIL_ENST00000375400.3_Missense_Mutation_p.A353T	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	747					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)				TACGTGGCTGCGATGACCACC	0.493																																																0													113	97	102					10																	29818641		2203	4300	6503	SO:0001583	missense	6840			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.2239G>A	chr10.hg19:g.29818641C>T	ENSP00000348128:p.Ala747Thr		D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	hg19	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.836524	0.91117	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867	T;T;T	0.63255	-0.03;-0.03;-0.03	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.79981	0.4540	M	0.76328	2.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.79232	-0.1888	9	.	.	.	-17.2812	19.571	0.95419	0.0:1.0:0.0:0.0	.	353;747	O95425-2;O95425	.;SVIL_HUMAN	T	353;747;747	ENSP00000364549:A353T;ENSP00000364547:A747T;ENSP00000348128:A747T	.	A	-	1	0	SVIL	29858647	1.000000	0.71417	0.467000	0.27180	0.599000	0.36880	7.354000	0.79424	2.709000	0.92574	0.655000	0.94253	GCA		0.493	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			T	29818641	C	T	29818641	3	4	769	1	0	0	0	0	1	0	0	0	15426	768	27	1	4513	1	SVIL	10	29818641	Missense_Mutation	SNP	C	TCGA-MH-A857-01A-11D-A34Z-10		29818641	105716106	14	45407											
PIWIL4	143689	hgsc.bcm.edu	37	11	94300728	94300728	+	Missense_Mutation	SNP	G	G	A			TCGA-MH-A857-01A-11D-A34Z-10	TCGA-MH-A857-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0299221a-3d27-41da-acfa-e3d9a0bf59cf	66cc7636-90d2-4545-99c6-ea90745ba8b1	g.chr11:94300728G>A	ENST00000299001.6	+	1	255	c.44G>A	c.(43-45)aGc>aAc	p.S15N	RP11-867G2.8_ENST00000536540.1_RNA|RP11-867G2.8_ENST00000537874.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	15					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)				ATCGCCCGCAGCCCCAGTGCC	0.557																																																0													59	44	49					11																	94300728		2199	4296	6495	SO:0001583	missense	143689			AB079366	CCDS31656.1	11q12	2013-02-15	2013-02-15			ENSG00000134627		"Argonaute/PIWI family"	18444	protein-coding gene	gene with protein product		610315	"piwi-like 4 (Drosophila)"			12906857	Standard	NM_152431		Approved	FLJ36156, HIWI2, Miwi2	uc001pfa.3	Q7Z3Z4		ENST00000299001.6:c.44G>A	chr11.hg19:g.94300728G>A	ENSP00000299001:p.Ser15Asn		B4DEG5|Q68CZ4|Q8N8G9|Q8N9V8|Q8NEH2	Missense_Mutation	SNP	ENST00000299001.6	hg19	CCDS31656.1	.	.	.	.	.	.	.	.	.	.	g	12.40	1.925406	0.34002	.	.	ENSG00000134627	ENST00000299001	T	0.03982	3.74	4.01	3.09	0.35607	.	0.865945	0.09952	N	0.734526	T	0.05456	0.0144	L	0.43152	1.355	0.21527	N	0.999656	B	0.23937	0.094	B	0.21917	0.037	T	0.39078	-0.9631	10	0.30854	T	0.27	-0.0873	7.5657	0.27876	0.1179:0.0:0.8821:0.0	.	15	Q7Z3Z4	PIWL4_HUMAN	N	15	ENSP00000299001:S15N	ENSP00000299001:S15N	S	+	2	0	PIWIL4	93940376	0.001000	0.12720	0.002000	0.10522	0.129000	0.20672	0.946000	0.29069	1.034000	0.39945	0.555000	0.69702	AGC		0.557	PIWIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396388.1	NM_152431		A	94300728	G	A	94300728	3	1	769	1	0	0	0	0	1	0	0	0	11962	971	34	2	46	2	PIWIL4	11	94300728	Missense_Mutation	SNP	G	TCGA-MH-A857-01A-11D-A34Z-10		94300728	40705788	15	45408											
MLL	4297	hgsc.bcm.edu	37	11	118377019	118377019	+	Frame_Shift_Del	DEL	C	C	-			TCGA-MH-A857-01A-11D-A34Z-10	TCGA-MH-A857-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0299221a-3d27-41da-acfa-e3d9a0bf59cf	66cc7636-90d2-4545-99c6-ea90745ba8b1	g.chr11:118377019delC	ENST00000389506.5	+	27	10403	c.10403delC	c.(10402-10404)tccfs	p.S3468fs	KMT2A_ENST00000354520.4_Frame_Shift_Del_p.S3430fs|KMT2A_ENST00000534358.1_Frame_Shift_Del_p.S3471fs			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3468					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)										ATTCATTCTTCCCAGCGTGAT	0.517																																																0													129	119	123					11																	118377019		2200	4295	6495	SO:0001589	frameshift_variant	4297			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.10403delC	chr11.hg19:g.118377019delC	ENSP00000374157:p.Ser3468fs		E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Frame_Shift_Del	DEL	ENST00000389506.5	hg19	CCDS31686.1																																																																																				0.517	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		-	118377019	C	-	118377019	7	5	769	1	0	1	0	1	0	0	0	0	9622	855	30	0	10509	0	MLL	11	118377019	Frame_Shift_Del	DEL	C	TCGA-MH-A857-01A-11D-A34Z-10	24076291	118377019	16629497	16	45409											
KIAA0528	9847	hgsc.bcm.edu	37	12	22676361	22676361	+	Splice_Site	SNP	C	C	T			TCGA-MH-A857-01A-11D-A34Z-10	TCGA-MH-A857-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0299221a-3d27-41da-acfa-e3d9a0bf59cf	66cc7636-90d2-4545-99c6-ea90745ba8b1	g.chr12:22676361C>T	ENST00000333957.4	-	7	1054	c.799G>A	c.(799-801)Gag>Aag	p.E267K	C2CD5_ENST00000396028.2_Splice_Site_p.E267K|C2CD5_ENST00000545552.1_Splice_Site_p.E267K|C2CD5_ENST00000446597.1_Splice_Site_p.E267K|C2CD5_ENST00000540703.1_5'UTR|C2CD5_ENST00000544930.1_Splice_Site_p.E69K|C2CD5_ENST00000542676.1_Splice_Site_p.E267K|C2CD5_ENST00000536386.1_Splice_Site_p.E267K	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	267					cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)										CATACTTACTCCTTCATTTCT	0.363																																																0													75	70	72					12																	22676361		2203	4300	6503	SO:0001630	splice_region_variant	9847			AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"138 kDa C2 domain-containing phosphoprotein"		"KIAA0528"	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.800+1G>A	chr12.hg19:g.22676361C>T			B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Missense_Mutation	SNP	ENST00000333957.4	hg19	CCDS31758.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.026154	0.93518	.	.	ENSG00000111731	ENST00000333957;ENST00000446597;ENST00000536386;ENST00000396028;ENST00000542676;ENST00000545552;ENST00000544930;ENST00000544281	T;T;T;T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69	5.24	5.24	0.73138	.	0.054847	0.64402	D	0.000001	T	0.61035	0.2315	L	0.47716	1.5	0.54753	D	0.999981	B;B;D;B;D;B	0.76494	0.216;0.397;0.997;0.138;0.999;0.192	B;B;D;B;D;B	0.75484	0.108;0.085;0.972;0.032;0.986;0.038	T	0.52888	-0.8515	10	0.13470	T	0.59	-15.5681	18.8083	0.92047	0.0:1.0:0.0:0.0	.	267;267;69;267;267;267	F5H2A1;B4DRN7;F5H3N1;B7ZLL0;Q86YS7-2;Q86YS7	.;.;.;.;.;K0528_HUMAN	K	267;267;267;267;267;267;69;66	ENSP00000334229:E267K;ENSP00000388756:E267K;ENSP00000439392:E267K;ENSP00000379345:E267K;ENSP00000441951:E267K;ENSP00000443204:E267K;ENSP00000445288:E69K;ENSP00000443479:E66K	ENSP00000334229:E267K	E	-	1	0	KIAA0528	22567628	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.474000	0.81024	2.426000	0.82243	0.591000	0.81541	GAG;GAG;GAG;GAG;GAG;GAG;GAG;GAA		0.363	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402257.1	NM_014802	Missense_Mutation	T	22676361	C	T	22676361	5	4	769	1	0	0	0	0	0	0	1	0	8184	869	30	2	2279	2	KIAA0528	12	22676361	Splice_Site	SNP	C	TCGA-MH-A857-01A-11D-A34Z-10		22676361	111175534	17	45410											
PTPRR	5801	hgsc.bcm.edu	37	12	71286725	71286725	+	Missense_Mutation	SNP	C	C	T			TCGA-MH-A857-01A-11D-A34Z-10	TCGA-MH-A857-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0299221a-3d27-41da-acfa-e3d9a0bf59cf	66cc7636-90d2-4545-99c6-ea90745ba8b1	g.chr12:71286725C>T	ENST00000283228.2	-	2	543	c.91G>A	c.(91-93)Gca>Aca	p.A31T		NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	31					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)		TGATTAATTGCCAAAAAATGA	0.378																																																0													93	99	97					12																	71286725		2203	4299	6502	SO:0001583	missense	5801			D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.91G>A	chr12.hg19:g.71286725C>T	ENSP00000283228:p.Ala31Thr		B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Missense_Mutation	SNP	ENST00000283228.2	hg19	CCDS8998.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.166559	0.57476	.	.	ENSG00000153233	ENST00000283228	T	0.04156	3.69	5.86	4.92	0.64577	.	0.423542	0.16942	U	0.193232	T	0.04543	0.0124	L	0.27053	0.805	0.80722	D	1	B	0.13594	0.008	B	0.06405	0.002	T	0.40515	-0.9559	10	0.45353	T	0.12	-1.9248	10.8509	0.46769	0.0:0.7948:0.1326:0.0725	.	31	Q15256	PTPRR_HUMAN	T	31	ENSP00000283228:A31T	ENSP00000283228:A31T	A	-	1	0	PTPRR	69572992	1.000000	0.71417	0.991000	0.47740	0.990000	0.78478	2.095000	0.41729	2.776000	0.95493	0.650000	0.86243	GCA		0.378	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849		T	71286725	C	T	71286725	3	4	769	1	0	0	0	0	1	0	0	0	12816	739	26	2	1934	2	PTPRR	12	71286725	Missense_Mutation	SNP	C	TCGA-MH-A857-01A-11D-A34Z-10	48610364	71286725	62565170	18	45411											
RNF17	56163	hgsc.bcm.edu	37	13	25428149	25428149	+	Missense_Mutation	SNP	T	T	G			TCGA-MH-A857-01A-11D-A34Z-10	TCGA-MH-A857-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0299221a-3d27-41da-acfa-e3d9a0bf59cf	66cc7636-90d2-4545-99c6-ea90745ba8b1	g.chr13:25428149T>G	ENST00000255324.5	+	25	3529	c.3477T>G	c.(3475-3477)ttT>ttG	p.F1159L	RNF17_ENST00000339524.3_Missense_Mutation_p.F211L|RNF17_ENST00000381921.1_Missense_Mutation_p.F1159L	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1159					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)		TGTCTGAATTTCAGGAGAAAA	0.393																																																0													88	89	89					13																	25428149		2203	4300	6503	SO:0001583	missense	56163			AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"RING-type (C3HC4) zinc fingers", "Tudor domain containing"	10060	protein-coding gene	gene with protein product	"spermatogenesis associated 23"	605793	"tudor domain containing 4"	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.3477T>G	chr13.hg19:g.25428149T>G	ENSP00000255324:p.Phe1159Leu		Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	hg19	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	T	0.044	-1.274512	0.01410	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000418120;ENST00000339524	T;T;T;T	0.21361	3.62;3.62;2.85;2.01	4.95	0.786	0.18590	.	1.172140	0.06091	N	0.663694	T	0.13884	0.0336	L	0.44542	1.39	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.001;0.0	T	0.33803	-0.9854	10	0.08179	T	0.78	-0.6392	1.6021	0.02676	0.1715:0.0948:0.1782:0.5556	.	1155;211;1159;1159	B7Z7S1;Q5T6R1;Q9BXT8-5;Q9BXT8	.;.;.;RNF17_HUMAN	L	1159;1159;1018;483;211	ENSP00000255324:F1159L;ENSP00000371346:F1159L;ENSP00000388892:F483L;ENSP00000344776:F211L	ENSP00000255324:F1159L	F	+	3	2	RNF17	24326149	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-0.083000	0.11286	0.421000	0.25980	0.477000	0.44152	TTT		0.393	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		G	25428149	T	G	25428149	3	3	769	1	0	0	0	0	1	0	0	0	13467	1780	62	5	3575	5	RNF17	13	25428149	Missense_Mutation	SNP	T	TCGA-MH-A857-01A-11D-A34Z-10		25428149	89741729	19	45412											
EML5	161436	hgsc.bcm.edu	37	14	89109293	89109293	+	Missense_Mutation	SNP	C	C	T			TCGA-MH-A857-01A-11D-A34Z-10	TCGA-MH-A857-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0299221a-3d27-41da-acfa-e3d9a0bf59cf	66cc7636-90d2-4545-99c6-ea90745ba8b1	g.chr14:89109293C>T	ENST00000380664.5	-	29	4156	c.4157G>A	c.(4156-4158)gGt>gAt	p.G1386D	EML5_ENST00000352093.5_Missense_Mutation_p.G1348D|EML5_ENST00000554922.1_Missense_Mutation_p.G1394D			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1386						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						TATATCATCACCATCATTTAA	0.343																																																0													102	98	99					14																	89109293		1855	4103	5958	SO:0001583	missense	161436			AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"WD repeat domain containing"	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.4157G>A	chr14.hg19:g.89109293C>T	ENSP00000370039:p.Gly1386Asp		B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Missense_Mutation	SNP	ENST00000380664.5	hg19	CCDS45148.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.045975	0.93685	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	T;T;T	0.68181	-0.31;-0.31;-0.31	5.7	5.7	0.88788	HELP (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.83308	0.5226	M	0.77712	2.385	0.80722	D	1	D;D	0.89917	0.981;1.0	P;D	0.91635	0.9;0.999	D	0.84618	0.0682	10	0.87932	D	0	-24.0977	19.8242	0.96610	0.0:1.0:0.0:0.0	.	1394;1386	Q05BV3-5;Q05BV3	.;EMAL5_HUMAN	D	1394;1348;1386	ENSP00000451998:G1394D;ENSP00000298315:G1348D;ENSP00000370039:G1386D	ENSP00000298315:G1348D	G	-	2	0	EML5	88179046	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.442000	0.80503	2.669000	0.90835	0.591000	0.81541	GGT		0.343	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1			T	89109293	C	T	89109293	3	4	769	1	0	0	0	0	1	0	0	0	5102	507	18	2	1808	2	EML5	14	89109293	Missense_Mutation	SNP	C	TCGA-MH-A857-01A-11D-A34Z-10		89109293	18240247	20	45413											
CGNL1	84952	hgsc.bcm.edu	37	15	57815687	57815687	+	Splice_Site	SNP	G	G	A			TCGA-MH-A857-01A-11D-A34Z-10	TCGA-MH-A857-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0299221a-3d27-41da-acfa-e3d9a0bf59cf	66cc7636-90d2-4545-99c6-ea90745ba8b1	g.chr15:57815687G>A	ENST00000281282.5	+	11	2794	c.2716G>A	c.(2716-2718)Gga>Aga	p.G906R		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	906						myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		CCATTTGCAGGGAAATCTGAG	0.502																																																0													68	66	67					15																	57815687		2192	4292	6484	SO:0001630	splice_region_variant	84952			AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.2716-1G>A	chr15.hg19:g.57815687G>A			Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Missense_Mutation	SNP	ENST00000281282.5	hg19	CCDS10161.1	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.607950	0.00842	.	.	ENSG00000128849	ENST00000281282	T	0.74209	-0.82	5.46	1.79	0.24919	.	0.721945	0.12888	N	0.430847	T	0.30727	0.0774	N	0.00135	-2.02	0.37102	D	0.899944	B	0.02656	0.0	B	0.04013	0.001	T	0.17228	-1.0376	9	.	.	.	-6.013	5.9639	0.19315	0.6491:0.1289:0.2219:0.0	.	906	Q0VF96	CGNL1_HUMAN	R	906	ENSP00000281282:G906R	.	G	+	1	0	CGNL1	55602979	1.000000	0.71417	0.610000	0.28997	0.079000	0.17450	2.572000	0.45999	0.112000	0.17975	-0.238000	0.12139	GGA		0.502	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2	NM_032866	Missense_Mutation	A	57815687	G	A	57815687	5	1	769	1	0	0	0	0	0	0	1	0	3306	1246	43	2	2754	2	CGNL1	15	57815687	Splice_Site	SNP	G	TCGA-MH-A857-01A-11D-A34Z-10		57815687	44715705	21	45414											
KIAA1632	57724	hgsc.bcm.edu	37	18	43534423	43534423	+	Silent	SNP	T	T	C			TCGA-MH-A857-01A-11D-A34Z-10	TCGA-MH-A857-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0299221a-3d27-41da-acfa-e3d9a0bf59cf	66cc7636-90d2-4545-99c6-ea90745ba8b1	g.chr18:43534423T>C	ENST00000282041.5	-	2	979	c.945A>G	c.(943-945)acA>acG	p.T315T		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	315					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						GGCAATCAGATGTCAGAGTAA	0.453																																																0													105	102	103					18																	43534423		1934	4155	6089	SO:0001819	synonymous_variant	57724			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.945A>G	chr18.hg19:g.43534423T>C			A2BDF3|Q9H8C8	Silent	SNP	ENST00000282041.5	hg19	CCDS11926.2																																																																																				0.453	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		C	43534423	T	C	43534423	2	2	769	1	0	0	0	0	0	0	0	1	8251	1451	51	3		3	KIAA1632	18	43534423	Silent	SNP	T	TCGA-MH-A857-01A-11D-A34Z-10		43534423	34542825	22	45415											
MAG	4099	hgsc.bcm.edu	37	19	35802844	35802844	+	Missense_Mutation	SNP	G	G	A			TCGA-MH-A857-01A-11D-A34Z-10	TCGA-MH-A857-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0299221a-3d27-41da-acfa-e3d9a0bf59cf	66cc7636-90d2-4545-99c6-ea90745ba8b1	g.chr19:35802844G>A	ENST00000392213.3	+	10	1799	c.1640G>A	c.(1639-1641)aGc>aAc	p.S547N	MAG_ENST00000361922.4_Missense_Mutation_p.S547N|MAG_ENST00000593348.1_3'UTR|MAG_ENST00000537831.2_Missense_Mutation_p.S522N	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	547					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GAGAGCCCCAGCTTCTCGGCA	0.607																																																0													50	37	41					19																	35802844		2203	4300	6503	SO:0001583	missense	4099			M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6783	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 4A"	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.1640G>A	chr19.hg19:g.35802844G>A	ENSP00000376048:p.Ser547Asn		B7Z2E5|F5GYC0|Q567S4	Missense_Mutation	SNP	ENST00000392213.3	hg19	CCDS12455.1	.	.	.	.	.	.	.	.	.	.	g	22.6	4.314557	0.81358	.	.	ENSG00000105695	ENST00000262624;ENST00000361922;ENST00000392213;ENST00000537831	T;T;T	0.65549	0.01;-0.16;-0.09	5.26	5.26	0.73747	.	0.169147	0.52532	D	0.000066	T	0.63628	0.2527	N	0.19112	0.55	0.35505	D	0.800098	D;P;P	0.57899	0.981;0.948;0.941	D;P;P	0.65140	0.932;0.508;0.607	T	0.64381	-0.6421	10	0.16896	T	0.51	.	16.3569	0.83237	0.0:0.0:1.0:0.0	.	584;547;547	Q59GD9;P20916;Q567S4	.;MAG_HUMAN;.	N	584;547;547;522	ENSP00000355234:S547N;ENSP00000376048:S547N;ENSP00000440695:S522N	ENSP00000262624:S584N	S	+	2	0	MAG	40494684	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.547000	0.67249	2.466000	0.83321	0.556000	0.70494	AGC		0.607	MAG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466071.1	NM_080600		A	35802844	G	A	35802844	3	1	769	1	0	0	0	0	1	0	0	0	9164	971	34	2	1670	2	MAG	19	35802844	Missense_Mutation	SNP	G	TCGA-MH-A857-01A-11D-A34Z-10		35802844	23326139	23	45416											
SCAF1	58506	hgsc.bcm.edu	37	19	50156129	50156129	+	Missense_Mutation	SNP	C	C	A			TCGA-MH-A857-01A-11D-A34Z-10	TCGA-MH-A857-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0299221a-3d27-41da-acfa-e3d9a0bf59cf	66cc7636-90d2-4545-99c6-ea90745ba8b1	g.chr19:50156129C>A	ENST00000360565.3	+	7	2607	c.2483C>A	c.(2482-2484)tCc>tAc	p.S828Y		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	828	Ser-rich.				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)		TCCTGTTCTTCCCGGAAGGTG	0.692																																																0													64	72	69					19																	50156129		2201	4300	6501	SO:0001583	missense	58506			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.2483C>A	chr19.hg19:g.50156129C>A	ENSP00000353769:p.Ser828Tyr		Q7Z5V7|Q8WVA1|Q9NR59	Missense_Mutation	SNP	ENST00000360565.3	hg19	CCDS33074.1	.	.	.	.	.	.	.	.	.	.	C	3.923	-0.017817	0.07681	.	.	ENSG00000126461	ENST00000360565	T	0.36520	1.25	3.11	3.11	0.35812	.	0.761454	0.10799	N	0.632937	T	0.35307	0.0927	N	0.14661	0.345	0.09310	N	1	D	0.64830	0.994	P	0.59889	0.865	T	0.14282	-1.0478	9	.	.	.	-19.5321	9.2581	0.37595	0.0:0.6322:0.3678:0.0	.	828	Q9H7N4	SFR19_HUMAN	Y	828	ENSP00000353769:S828Y	.	S	+	2	0	SCAF1	54847941	.	.	0.243000	0.24186	0.174000	0.22865	.	.	2.046000	0.60703	0.561000	0.74099	TCC		0.692	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465764.1	NM_021228		A	50156129	C	A	50156129	3	1	769	1	0	0	0	0	1	0	0	0	13874	855	30	4	2505	4	SCAF1	19	50156129	Missense_Mutation	SNP	C	TCGA-MH-A857-01A-11D-A34Z-10	14353285	50156129	8972854	24	45417											
NCOA6	23054	hgsc.bcm.edu	37	20	33329080	33329081	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-MH-A857-01A-11D-A34Z-10	TCGA-MH-A857-10A-01D-A34Z-10	AA	AA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0299221a-3d27-41da-acfa-e3d9a0bf59cf	66cc7636-90d2-4545-99c6-ea90745ba8b1	g.chr20:33329080_33329081delAA	ENST00000374796.2	-	12	7549_7550	c.4979_4980delTT	c.(4978-4980)tttfs	p.F1660fs	NCOA6_ENST00000359003.2_Frame_Shift_Del_p.F1660fs			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1660	EP300/CRSP3-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						ATGAATTGATAAAGACAGGTGT	0.49																																																0																																										SO:0001589	frameshift_variant	23054			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.4979_4980delTT	chr20.hg19:g.33329080_33329081delAA	ENSP00000363929:p.Phe1660fs		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Frame_Shift_Del	DEL	ENST00000374796.2	hg19	CCDS13241.1																																																																																				0.49	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		-	33329081	AA	-	33329080	7	5	769	1	0	1	0	1	0	0	0	0	10235	359	13	0	1231	0	NCOA6	20	33329080	Frame_Shift_Del	DEL	AA	TCGA-MH-A857-01A-11D-A34Z-10		33329080	29696440	25	45418											
DNAJC11	55735	hgsc.bcm.edu	37	1	6705133	6705133	+	Silent	SNP	A	A	G			TCGA-O9-A75Z-01A-11D-A33Q-10	TCGA-O9-A75Z-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	11f95391-f644-4b23-b2b3-c3020648260b	b07e7c8d-9fc0-4376-89e2-8ceb9afcaa38	g.chr1:6705133A>G	ENST00000377577.5	-	9	1071	c.948T>C	c.(946-948)gaT>gaC	p.D316D	DNAJC11_ENST00000349363.6_Intron|DNAJC11_ENST00000465508.1_5'Flank|DNAJC11_ENST00000294401.7_Silent_p.D316D|DNAJC11_ENST00000542246.1_Silent_p.D278D|DNAJC11_ENST00000377573.5_Silent_p.D226D	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	316						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)		TCTGATCGTCATCTTGGAATT	0.532																																																0													299	274	282					1																	6705133		2203	4300	6503	SO:0001819	synonymous_variant	55735			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.948T>C	chr1.hg19:g.6705133A>G			Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Silent	SNP	ENST00000377577.5	hg19	CCDS87.1																																																																																				0.532	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004216.3	NM_018198		G	6705133	A	G	6705133	2	3	770	1	0	0	0	0	0	0	0	1	4632	214	8	3		3	DNAJC11	1	6705133	Silent	SNP	A	TCGA-O9-A75Z-01A-11D-A33Q-10		6705133	242545488	1	45419											
KDM4A	9682	hgsc.bcm.edu	37	1	44133641	44133641	+	Missense_Mutation	SNP	G	G	C			TCGA-O9-A75Z-01A-11D-A33Q-10	TCGA-O9-A75Z-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	11f95391-f644-4b23-b2b3-c3020648260b	b07e7c8d-9fc0-4376-89e2-8ceb9afcaa38	g.chr1:44133641G>C	ENST00000372396.3	+	9	1248	c.1114G>C	c.(1114-1116)Gag>Cag	p.E372Q		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	372					cardiac muscle hypertrophy in response to stress (GO:0014898)|histone demethylation (GO:0016577)|histone H3-K36 demethylation (GO:0070544)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|methylated histone binding (GO:0035064)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						GTGCCCAGAGGAGGACATGGA	0.562																																																0													145	139	141					1																	44133641		2203	4300	6503	SO:0001583	missense	9682			AB014577	CCDS491.1	1p34.1	2013-01-23	2009-04-06	2009-04-06	ENSG00000066135	ENSG00000066135		"Chromatin-modifying enzymes / K-demethylases", "Tudor domain containing"	22978	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 3A", "tudor domain containing 14A"	609764	"jumonji domain containing 2", "jumonji domain containing 2A"	JMJD2, JMJD2A		9734811, 15138608	Standard	XM_005271354		Approved	KIAA0677, JHDM3A, TDRD14A	uc001cjx.3	O75164	OTTHUMG00000007560	ENST00000372396.3:c.1114G>C	chr1.hg19:g.44133641G>C	ENSP00000361473:p.Glu372Gln		Q5VVB1	Missense_Mutation	SNP	ENST00000372396.3	hg19	CCDS491.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.328538	0.41197	.	.	ENSG00000066135	ENST00000372396	T	0.16196	2.36	5.58	5.58	0.84498	.	0.765572	0.13019	N	0.420245	T	0.17152	0.0412	L	0.48362	1.52	0.33669	D	0.610687	B;B	0.30482	0.281;0.068	B;B	0.22152	0.038;0.031	T	0.18272	-1.0342	10	0.13470	T	0.59	-2.168	17.7576	0.88453	0.0:0.0:1.0:0.0	.	372;372	B4DT38;O75164	.;KDM4A_HUMAN	Q	372	ENSP00000361473:E372Q	ENSP00000361473:E372Q	E	+	1	0	KDM4A	43906228	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	8.613000	0.90913	2.617000	0.88574	0.555000	0.69702	GAG		0.562	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019960.1	NM_014663		C	44133641	G	C	44133641	3	2	770	1	0	0	0	0	1	0	0	0	8130	1175	41	4	1144	4	KDM4A	1	44133641	Missense_Mutation	SNP	G	TCGA-O9-A75Z-01A-11D-A33Q-10	37428508	44133641	205116980	2	45420											
AGT	183	hgsc.bcm.edu	37	1	230839940	230839940	+	Splice_Site	SNP	T	T	C			TCGA-O9-A75Z-01A-11D-A33Q-10	TCGA-O9-A75Z-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	11f95391-f644-4b23-b2b3-c3020648260b	b07e7c8d-9fc0-4376-89e2-8ceb9afcaa38	g.chr1:230839940T>C	ENST00000366667.4	-	4	1482	c.1268A>G	c.(1267-1269)gAg>gGg	p.E423G		NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	423					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)		CACACATACCTCCCCCACCCT	0.597																																																0													159	123	135					1																	230839940		2203	4300	6503	SO:0001630	splice_region_variant	183			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.1269+1A>G	chr1.hg19:g.230839940T>C			Q16358|Q16359|Q96F91	Missense_Mutation	SNP	ENST00000366667.4	hg19	CCDS1585.1	.	.	.	.	.	.	.	.	.	.	T	16.31	3.086987	0.55861	.	.	ENSG00000135744	ENST00000366667;ENST00000430091	D	0.88046	-2.33	5.33	5.33	0.75918	Serpin domain (3);	0.348276	0.35555	N	0.003140	D	0.84951	0.5586	L	0.36672	1.1	0.34358	D	0.690613	P;P	0.49862	0.929;0.929	P;P	0.47251	0.542;0.542	D	0.90471	0.4453	10	0.72032	D	0.01	.	14.1269	0.65228	0.0:0.0:0.0:1.0	.	423;423	B0ZBE2;P01019	.;ANGT_HUMAN	G	423;341	ENSP00000355627:E423G	ENSP00000355627:E423G	E	-	2	0	AGT	228906563	1.000000	0.71417	0.884000	0.34674	0.012000	0.07955	4.445000	0.60007	2.020000	0.59435	0.533000	0.62120	GAG		0.597	AGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092102.1	NM_000029	Missense_Mutation	C	230839940	T	C	230839940	5	2	770	1	0	0	0	0	0	0	1	0	399	1565	54	3	197	3	AGT	1	230839940	Splice_Site	SNP	T	TCGA-O9-A75Z-01A-11D-A33Q-10	186706299	230839940	18410681	3	45421											
OR2W3	343171	hgsc.bcm.edu	37	1	248059782	248059782	+	Silent	SNP	G	G	A			TCGA-O9-A75Z-01A-11D-A33Q-10	TCGA-O9-A75Z-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	11f95391-f644-4b23-b2b3-c3020648260b	b07e7c8d-9fc0-4376-89e2-8ceb9afcaa38	g.chr1:248059782G>A	ENST00000360358.3	+	1	894	c.894G>A	c.(892-894)aaG>aaA	p.K298K	OR2W3_ENST00000537741.1_Silent_p.K298K	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	298						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)			GAGAGGTGAAGGGGGCACTGG	0.537																																																0													39	40	40					1																	248059782		2203	4300	6503	SO:0001819	synonymous_variant	343171			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.894G>A	chr1.hg19:g.248059782G>A			Q6IF06|Q8NG86	Silent	SNP	ENST00000360358.3	hg19	CCDS31099.1																																																																																				0.537	OR2W3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096861.1	NM_001001957		A	248059782	G	A	248059782	2	1	770	1	0	0	0	0	0	0	0	1	11035	991	35	2		2	OR2W3	1	248059782	Silent	SNP	G	TCGA-O9-A75Z-01A-11D-A33Q-10	17219842	248059782	1190839	4	45422											
NLRC4	58484	hgsc.bcm.edu	37	2	32474767	32474767	+	Silent	SNP	A	A	G			TCGA-O9-A75Z-01A-11D-A33Q-10	TCGA-O9-A75Z-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	11f95391-f644-4b23-b2b3-c3020648260b	b07e7c8d-9fc0-4376-89e2-8ceb9afcaa38	g.chr2:32474767A>G	ENST00000404025.2	-	5	2654	c.2166T>C	c.(2164-2166)agT>agC	p.S722S	NLRC4_ENST00000402280.1_Silent_p.S722S|NLRC4_ENST00000360906.5_Silent_p.S722S|NLRC4_ENST00000342905.6_Intron			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	722					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)					TGGTGAGGGGACTGGCTTCCA	0.473																																																0													160	153	155					2																	32474767		2203	4300	6503	SO:0001819	synonymous_variant	58484			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.2166T>C	chr2.hg19:g.32474767A>G			A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Silent	SNP	ENST00000404025.2	hg19	CCDS33174.1																																																																																				0.473	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		G	32474767	A	G	32474767	2	3	770	1	0	0	0	0	0	0	0	1	10471	272	10	3		3	NLRC4	2	32474767	Silent	SNP	A	TCGA-O9-A75Z-01A-11D-A33Q-10		32474767	210724606	5	45423											
IQCJ	654502	hgsc.bcm.edu	37	3	158983179	158983179	+	Missense_Mutation	SNP	T	T	C			TCGA-O9-A75Z-01A-11D-A33Q-10	TCGA-O9-A75Z-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	11f95391-f644-4b23-b2b3-c3020648260b	b07e7c8d-9fc0-4376-89e2-8ceb9afcaa38	g.chr3:158983179T>C	ENST00000451172.1	+	5	572	c.467T>C	c.(466-468)cTc>cCc	p.L156P	IQCJ-SCHIP1_ENST00000467442.1_Intron|IQCJ_ENST00000482126.1_Missense_Mutation_p.L129P|IQCJ-SCHIP1_ENST00000476809.1_Intron|IQCJ-SCHIP1_ENST00000485419.1_Intron	NM_001042705.2	NP_001036170.1	Q1A5X6	IQCJ_HUMAN	IQ motif containing J	156										cervix(1)|endometrium(2)|large_intestine(2)|lung(10)	15			LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)			CTTGGTTTTCTCACCCTCCAG	0.478																																																0													92	88	89					3																	158983179		1892	4130	6022	SO:0001583	missense	654502			DQ309553, DQ309554	CCDS46946.1, CCDS46947.1, CCDS56290.1	3q25.32	2011-03-24			ENSG00000214216	ENSG00000214216			32406	protein-coding gene	gene with protein product		611622				17045569	Standard	NM_001042705		Approved			Q1A5X6	OTTHUMG00000166440	ENST00000451172.1:c.467T>C	chr3.hg19:g.158983179T>C	ENSP00000402153:p.Leu156Pro		B7ZMM2|B9EH97|Q1A5X5	Missense_Mutation	SNP	ENST00000451172.1	hg19	CCDS46946.1	.	.	.	.	.	.	.	.	.	.	T	10.29	1.310205	0.23821	.	.	ENSG00000214216	ENST00000451172;ENST00000482126	.	.	.	3.53	-3.64	0.04515	.	.	.	.	.	T	0.22126	0.0533	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.20107	-1.0285	8	0.62326	D	0.03	.	6.7772	0.23626	0.1904:0.6487:0.0:0.1609	.	129;156	B7ZMM2;Q1A5X6	.;IQCJ_HUMAN	P	156;129	.	ENSP00000402153:L156P	L	+	2	0	IQCJ	160465873	0.000000	0.05858	0.000000	0.03702	0.062000	0.15995	-0.646000	0.05403	-0.782000	0.04541	-0.250000	0.11733	CTC		0.478	IQCJ-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352395.1	NM_001042705.1		C	158983179	T	C	158983179	3	2	770	1	0	0	0	0	1	0	0	0	7814	1551	54	3	533	3	IQCJ	3	158983179	Missense_Mutation	SNP	T	TCGA-O9-A75Z-01A-11D-A33Q-10		158983179	39039251	6	45424											
FBXL17	64839	hgsc.bcm.edu	37	5	107700635	107700635	+	Missense_Mutation	SNP	A	A	T			TCGA-O9-A75Z-01A-11D-A33Q-10	TCGA-O9-A75Z-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	11f95391-f644-4b23-b2b3-c3020648260b	b07e7c8d-9fc0-4376-89e2-8ceb9afcaa38	g.chr5:107700635A>T	ENST00000542267.1	-	3	1584	c.1178T>A	c.(1177-1179)aTt>aAt	p.I393N	FBXL17_ENST00000496714.1_5'UTR|FBXL17_ENST00000359660.5_5'UTR	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	393										endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		ACAATCAGAAATGTTGATTTC	0.328																																																0													85	86	85					5																	107700635		2202	4299	6501	SO:0001583	missense	64839			AL133602	CCDS54886.1	5q21.3	2011-06-09	2004-06-15	2004-06-16	ENSG00000145743	ENSG00000145743		"F-boxes / Leucine-rich repeats"	13615	protein-coding gene	gene with protein product		609083	"F-box only protein 13"	FBXO13			Standard	NM_001163315		Approved	DKFZP434C1715, Fbx13, Fbl17	uc011cvc.2	Q9UF56	OTTHUMG00000159785	ENST00000542267.1:c.1178T>A	chr5.hg19:g.107700635A>T	ENSP00000437464:p.Ile393Asn		A1A4E3	Missense_Mutation	SNP	ENST00000542267.1	hg19	CCDS54886.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.539746	0.85917	.	.	ENSG00000145743	ENST00000542267	T	0.03181	4.02	5.59	5.59	0.84812	.	.	.	.	.	T	0.10551	0.0258	L	0.39898	1.24	0.80722	D	1	D	0.67145	0.996	P	0.59171	0.853	T	0.01409	-1.1362	9	0.87932	D	0	.	16.0612	0.80839	1.0:0.0:0.0:0.0	.	393	Q9UF56	FXL17_HUMAN	N	393	ENSP00000437464:I393N	ENSP00000437464:I393N	I	-	2	0	FBXL17	107728534	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.870000	0.92336	2.250000	0.74265	0.477000	0.44152	ATT		0.328	FBXL17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				T	107700635	A	T	107700635	3	4	770	1	0	0	0	0	1	0	0	0	5715	101	4	5	955	5	FBXL17	5	107700635	Missense_Mutation	SNP	A	TCGA-O9-A75Z-01A-11D-A33Q-10		107700635	73214625	7	45425											
LMNB1	4001	hgsc.bcm.edu	37	5	126154725	126154725	+	Missense_Mutation	SNP	G	G	T			TCGA-O9-A75Z-01A-11D-A33Q-10	TCGA-O9-A75Z-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	11f95391-f644-4b23-b2b3-c3020648260b	b07e7c8d-9fc0-4376-89e2-8ceb9afcaa38	g.chr5:126154725G>T	ENST00000261366.5	+	6	1412	c.1051G>T	c.(1051-1053)Gat>Tat	p.D351Y	LMNB1_ENST00000395354.1_Missense_Mutation_p.D351Y|LMNB1_ENST00000460265.1_3'UTR	NM_001198557.1|NM_005573.3	NP_001185486.1|NP_005564.1	P20700	LMNB1_HUMAN	lamin B1	351	Coil 2.|Rod.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	lamin filament (GO:0005638)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.103)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)		GGAAATAAGGGATCAAATGCA	0.423																																																0													123	120	121					5																	126154725		2203	4300	6503	SO:0001583	missense	4001			L37737	CCDS4140.1	5q23.2	2013-01-16			ENSG00000113368	ENSG00000113368		"Intermediate filaments type V, lamins"	6637	protein-coding gene	gene with protein product		150340				7557986, 8838815	Standard	NM_005573		Approved		uc003kud.2	P20700	OTTHUMG00000128969	ENST00000261366.5:c.1051G>T	chr5.hg19:g.126154725G>T	ENSP00000261366:p.Asp351Tyr		B2R6J6|Q3SYN7|Q96EI6	Missense_Mutation	SNP	ENST00000261366.5	hg19	CCDS4140.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.158723	0.78226	.	.	ENSG00000113368	ENST00000261366;ENST00000395354	D;D	0.89270	-2.49;-2.49	5.74	5.74	0.90152	Filament (1);	0.160581	0.53938	D	0.000058	D	0.92179	0.7520	M	0.72118	2.19	0.51767	D	0.999936	P	0.51791	0.948	P	0.56163	0.793	D	0.92360	0.5896	10	0.72032	D	0.01	.	13.954	0.64135	0.0783:0.0:0.9217:0.0	.	351	P20700	LMNB1_HUMAN	Y	351	ENSP00000261366:D351Y;ENSP00000378761:D351Y	ENSP00000261366:D351Y	D	+	1	0	LMNB1	126182624	1.000000	0.71417	0.994000	0.49952	0.975000	0.68041	3.942000	0.56614	2.873000	0.98535	0.563000	0.77884	GAT		0.423	LMNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250956.2	NM_005573		T	126154725	G	T	126154725	3	4	770	1	0	0	0	0	1	0	0	0	8851	1174	41	4	1073	4	LMNB1	5	126154725	Missense_Mutation	SNP	G	TCGA-O9-A75Z-01A-11D-A33Q-10	18454090	126154725	54760535	8	45426											
PCDHGA12	26025	hgsc.bcm.edu	37	5	140811391	140811391	+	Silent	SNP	G	G	T			TCGA-O9-A75Z-01A-11D-A33Q-10	TCGA-O9-A75Z-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	11f95391-f644-4b23-b2b3-c3020648260b	b07e7c8d-9fc0-4376-89e2-8ceb9afcaa38	g.chr5:140811391G>T	ENST00000252085.3	+	1	1207	c.1065G>T	c.(1063-1065)tcG>tcT	p.S355S	PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA10_ENST00000398610.2_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	355	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(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)			TCGCCAGCTCGGTTCCCGAAA	0.483																																																0													75	75	75					5																	140811391		2203	4300	6503	SO:0001819	synonymous_variant	26025			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.1065G>T	chr5.hg19:g.140811391G>T			O15100|Q6UW70|Q9Y5D7	Silent	SNP	ENST00000252085.3	hg19	CCDS4260.1																																																																																				0.483	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735		T	140811391	G	T	140811391	2	4	770	1	0	0	0	0	0	0	0	1	11555	1103	39	4		4	PCDHGA12	5	140811391	Silent	SNP	G	TCGA-O9-A75Z-01A-11D-A33Q-10	14656666	140811391	40103869	9	45427											
FOXP4	116113	hgsc.bcm.edu	37	6	41557563	41557563	+	Frame_Shift_Del	DEL	C	C	-			TCGA-O9-A75Z-01A-11D-A33Q-10	TCGA-O9-A75Z-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	11f95391-f644-4b23-b2b3-c3020648260b	b07e7c8d-9fc0-4376-89e2-8ceb9afcaa38	g.chr6:41557563delC	ENST00000307972.4	+	9	1132	c.1120delC	c.(1120-1122)cccfs	p.P374fs	FOXP4_ENST00000409208.1_Frame_Shift_Del_p.P374fs|FOXP4_ENST00000373063.3_Frame_Shift_Del_p.P373fs|FOXP4_ENST00000373060.1_Frame_Shift_Del_p.P374fs|FOXP4_ENST00000373057.3_Frame_Shift_Del_p.P372fs			Q8IVH2	FOXP4_HUMAN	forkhead box P4	374					embryonic foregut morphogenesis (GO:0048617)|heart development (GO:0007507)|lung secretory cell differentiation (GO:0061140)|negative regulation of lung goblet cell differentiation (GO:1901250)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					GCACATGCGGCCCTCGGAGCC	0.692											OREG0004066	type=REGULATORY REGION|Gene=FOXP4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																				0													34	37	36					6																	41557563		2203	4299	6502	SO:0001589	frameshift_variant	116113			AB080747	CCDS4856.1, CCDS34447.1, CCDS34448.1	6p21.1	2008-02-05			ENSG00000137166	ENSG00000137166		"Forkhead boxes"	20842	protein-coding gene	gene with protein product		608924					Standard	XM_006714991		Approved	FLJ40908	uc003oql.3	Q8IVH2	OTTHUMG00000014679	ENST00000307972.4:c.1120delC	chr6.hg19:g.41557563delC	ENSP00000309823:p.Pro374fs	902	Q5W098|Q7Z7F8|Q8IW55|Q96E19	Frame_Shift_Del	DEL	ENST00000307972.4	hg19	CCDS34447.1																																																																																				0.692	FOXP4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000106767.1	NM_138457		-	41557563	C	-	41557563	7	5	770	1	0	1	0	1	0	0	0	0	6031	739	26	0	1154	0	FOXP4	6	41557563	Frame_Shift_Del	DEL	C	TCGA-O9-A75Z-01A-11D-A33Q-10		41557563	129557504	10	45428											
ERCC6	2074	hgsc.bcm.edu	37	10	50668440	50668440	+	Silent	SNP	T	T	C			TCGA-O9-A75Z-01A-11D-A33Q-10	TCGA-O9-A75Z-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	11f95391-f644-4b23-b2b3-c3020648260b	b07e7c8d-9fc0-4376-89e2-8ceb9afcaa38	g.chr10:50668440T>C	ENST00000355832.5	-	20	4119	c.4041A>G	c.(4039-4041)acA>acG	p.T1347T	ERCC6_ENST00000542458.1_Silent_p.T717T|ERCC6_ENST00000465653.1_5'UTR|RP11-123B3.2_ENST00000423283.1_RNA	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	1347					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						CTGTTGGAGATGTTGATGAAG	0.368								Direct reversal of damage;Nucleotide excision repair (NER)																																								0													117	115	115					10																	50668440		2203	4300	6503	SO:0001819	synonymous_variant	2074			L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"Cockayne syndrome B protein"	609413	"excision repair cross-complementing rodent repair deficiency, complementation group 6"	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.4041A>G	chr10.hg19:g.50668440T>C			D3DX94|Q5W0L9	Silent	SNP	ENST00000355832.5	hg19	CCDS7229.1																																																																																				0.368	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124		C	50668440	T	C	50668440	2	2	770	1	0	0	0	0	0	0	0	1	5219	1451	51	3		3	ERCC6	10	50668440	Silent	SNP	T	TCGA-O9-A75Z-01A-11D-A33Q-10		50668440	84866307	11	45429											
MKI67	4288	hgsc.bcm.edu	37	10	129904962	129904962	+	Silent	SNP	G	G	T	rs372451114		TCGA-O9-A75Z-01A-11D-A33Q-10	TCGA-O9-A75Z-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	11f95391-f644-4b23-b2b3-c3020648260b	b07e7c8d-9fc0-4376-89e2-8ceb9afcaa38	g.chr10:129904962G>T	ENST00000368654.3	-	13	5517	c.5142C>A	c.(5140-5142)atC>atA	p.I1714I	MKI67_ENST00000368653.3_Silent_p.I1354I	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1714	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)				GGAAGAGCTCGATGAAGCCGG	0.493																																																0													109	98	102					10																	129904962		2203	4300	6503	SO:0001819	synonymous_variant	4288			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.5142C>A	chr10.hg19:g.129904962G>T			Q5VWH2	Silent	SNP	ENST00000368654.3	hg19	CCDS7659.1																																																																																				0.493	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		T	129904962	G	T	129904962	2	4	770	1	0	0	0	0	0	0	0	1	9600	1048	37	4		4	MKI67	10	129904962	Silent	SNP	G	TCGA-O9-A75Z-01A-11D-A33Q-10	79236522	129904962	5629785	12	45430											
HSPA8	3312	hgsc.bcm.edu	37	11	122931977	122931977	+	Missense_Mutation	SNP	C	C	G			TCGA-O9-A75Z-01A-11D-A33Q-10	TCGA-O9-A75Z-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	11f95391-f644-4b23-b2b3-c3020648260b	b07e7c8d-9fc0-4376-89e2-8ceb9afcaa38	g.chr11:122931977C>G	ENST00000532636.1	-	2	175	c.56G>C	c.(55-57)gGt>gCt	p.G19A	HSPA8_ENST00000526110.1_Missense_Mutation_p.G19A|HSPA8_ENST00000534319.1_5'Flank|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000453788.2_Missense_Mutation_p.G19A|HSPA8_ENST00000526862.1_5'Flank|HSPA8_ENST00000227378.3_Missense_Mutation_p.G19A|HSPA8_ENST00000533540.1_Missense_Mutation_p.G19A|HSPA8_ENST00000534624.1_Missense_Mutation_p.G19A|SNORD14C_ENST00000365382.1_RNA			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	19					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)		CTGGAAAACACCCACACAAGA	0.438																																					Colon(21;486 594 5900 6733 14272)											0													65	58	61					11																	122931977		2202	4299	6501	SO:0001583	missense	3312			Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"Heat shock proteins / HSP70"	5241	protein-coding gene	gene with protein product		600816	"heat shock 70kD protein 8"	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.56G>C	chr11.hg19:g.122931977C>G	ENSP00000437125:p.Gly19Ala		Q9H3R6	Missense_Mutation	SNP	ENST00000532636.1	hg19	CCDS8440.1	.	.	.	.	.	.	.	.	.	.	C	33	5.209267	0.95069	.	.	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	0.02709	5.87;5.87;5.87;5.87;5.87;5.87;4.19;5.87;5.87;5.87;5.87;5.87;5.87	4.42	4.42	0.53409	.	0.000000	0.85682	D	0.000000	T	0.08358	0.0208	N	0.25094	0.71	0.80722	D	1	D;B;D;D;B	0.89917	0.993;0.337;1.0;1.0;0.337	P;P;D;D;P	0.80764	0.876;0.499;0.994;0.989;0.499	T	0.39522	-0.9610	10	0.87932	D	0	-19.7385	17.4081	0.87479	0.0:1.0:0.0:0.0	.	19;19;19;19;19	B4DTX2;Q53GZ6;E7ET08;P11142-2;P11142	.;.;.;.;HSP7C_HUMAN	A	19	ENSP00000437125:G19A;ENSP00000437189:G19A;ENSP00000432083:G19A;ENSP00000404372:G19A;ENSP00000227378:G19A;ENSP00000433584:G19A;ENSP00000436762:G19A;ENSP00000435154:G19A;ENSP00000431641:G19A;ENSP00000436183:G19A;ENSP00000434415:G19A;ENSP00000434565:G19A;ENSP00000434851:G19A	ENSP00000227378:G19A	G	-	2	0	HSPA8	122437187	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.151000	0.67156	0.484000	0.47621	GGT		0.438	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1			G	122931977	C	G	122931977	3	3	770	1	0	0	0	0	1	0	0	0	7418	507	18	4	1916	4	HSPA8	11	122931977	Missense_Mutation	SNP	C	TCGA-O9-A75Z-01A-11D-A33Q-10		122931977	12074539	13	45431											
ATF7IP	55729	hgsc.bcm.edu	37	12	14576874	14576874	+	Frame_Shift_Del	DEL	A	A	-			TCGA-O9-A75Z-01A-11D-A33Q-10	TCGA-O9-A75Z-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	11f95391-f644-4b23-b2b3-c3020648260b	b07e7c8d-9fc0-4376-89e2-8ceb9afcaa38	g.chr12:14576874delA	ENST00000540793.1	+	1	180	c.25delA	c.(25-27)aaafs	p.K10fs	ATF7IP_ENST00000543189.1_Frame_Shift_Del_p.K10fs|ATF7IP_ENST00000544627.1_Frame_Shift_Del_p.K18fs|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000536444.1_Frame_Shift_Del_p.K10fs|ATF7IP_ENST00000261168.4_Frame_Shift_Del_p.K10fs			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	10					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						AGAACCTCAGAAAAAAGTCTT	0.353																																																0													48	47	47					12																	14576874		2203	4300	6503	SO:0001589	frameshift_variant	55729			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.25delA	chr12.hg19:g.14576874delA	ENSP00000444589:p.Lys10fs		F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Frame_Shift_Del	DEL	ENST00000540793.1	hg19	CCDS8663.1																																																																																				0.353	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179		-	14576874	A	-	14576874	7	5	770	1	0	1	0	1	0	0	0	0	1087	247	9	0	27	0	ATF7IP	12	14576874	Frame_Shift_Del	DEL	A	TCGA-O9-A75Z-01A-11D-A33Q-10		14576874	119275021	14	45432											
FRMD6	122786	hgsc.bcm.edu	37	14	52156560	52156561	+	Frame_Shift_Ins	INS	-	-	A			TCGA-O9-A75Z-01A-11D-A33Q-10	TCGA-O9-A75Z-10A-01D-A33Q-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	11f95391-f644-4b23-b2b3-c3020648260b	b07e7c8d-9fc0-4376-89e2-8ceb9afcaa38	g.chr14:52156560_52156561insA	ENST00000344768.5	+	2	202_203	c.6_7insA	c.(7-9)aaafs	p.K3fs	RNA5SP385_ENST00000515947.1_RNA|FRMD6_ENST00000395718.2_Frame_Shift_Ins_p.K3fs|FRMD6_ENST00000356218.4_Frame_Shift_Ins_p.K3fs			Q96NE9	FRMD6_HUMAN	FERM domain containing 6	3					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)					ACACAATGAACAAATTGAATTT	0.485																																																0																																										SO:0001589	frameshift_variant	122786			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.9dupA	chr14.hg19:g.52156563_52156563dupA	ENSP00000343899:p.Lys3fs		D3DSB9|Q5HYF2|Q8N2X1|Q8WUH7	Frame_Shift_Ins	INS	ENST00000344768.5	hg19	CCDS58318.1																																																																																				0.485	FRMD6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276881.1	NM_152330		A	52156561	-	A	52156560	7	5	770	1	0	1	1	0	0	0	0	0	6056	477	17	0	8	0	FRMD6	14	52156560	Frame_Shift_Ins	INS	-	TCGA-O9-A75Z-01A-11D-A33Q-10		52156560	55192980	15	45433											
MT1E	4493	hgsc.bcm.edu	37	16	56660835	56660835	+	Silent	SNP	G	G	A			TCGA-O9-A75Z-01A-11D-A33Q-10	TCGA-O9-A75Z-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	11f95391-f644-4b23-b2b3-c3020648260b	b07e7c8d-9fc0-4376-89e2-8ceb9afcaa38	g.chr16:56660835G>A	ENST00000306061.6	+	3	515	c.138G>A	c.(136-138)caG>caA	p.Q46Q	MT1E_ENST00000330439.6_3'UTR|MT1E_ENST00000568293.1_Silent_p.Q24Q	NM_175617.3	NP_783316.2	P04732	MT1E_HUMAN	metallothionein 1E	46	Alpha.				cellular response to cadmium ion (GO:0071276)|cellular response to zinc ion (GO:0071294)|negative regulation of growth (GO:0045926)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)										AGTGTGCCCAGGGCTGCGTCT	0.602																																																0													139	132	134					16																	56660835		2198	4300	6498	SO:0001819	synonymous_variant	4493			BC009699	CCDS10764.2	16q13	2008-08-11	2007-03-02		ENSG00000169715	ENSG00000169715		"Metallothioneins"	7397	protein-coding gene	gene with protein product		156351		MT1		6089206, 2581970	Standard	XM_005255956		Approved	MTD	uc002ejl.3	P04732	OTTHUMG00000133014	ENST00000306061.6:c.138G>A	chr16.hg19:g.56660835G>A			A2RRF7|Q86YX4|Q8TD51	Silent	SNP	ENST00000306061.6	hg19	CCDS10764.2																																																																																				0.602	MT1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256600.1	NM_175617		A	56660835	G	A	56660835	2	1	770	1	0	0	0	0	0	0	0	1	9901	991	35	2		2	MT1E	16	56660835	Silent	SNP	G	TCGA-O9-A75Z-01A-11D-A33Q-10		56660835	33693918	16	45434											
SIRT7	51547	hgsc.bcm.edu	37	17	79870320	79870320	+	Missense_Mutation	SNP	T	T	C			TCGA-O9-A75Z-01A-11D-A33Q-10	TCGA-O9-A75Z-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	11f95391-f644-4b23-b2b3-c3020648260b	b07e7c8d-9fc0-4376-89e2-8ceb9afcaa38	g.chr17:79870320T>C	ENST00000328666.6	-	10	1237	c.1175A>G	c.(1174-1176)aAa>aGa	p.K392R	PCYT2_ENST00000331285.3_5'Flank|PCYT2_ENST00000538721.2_5'Flank|PCYT2_ENST00000570388.1_5'Flank|PCYT2_ENST00000570391.1_5'Flank|PCYT2_ENST00000538936.2_5'Flank|PCYT2_ENST00000571105.1_5'Flank	NM_016538.2	NP_057622.1	Q9NRC8	SIR7_HUMAN	sirtuin 7	392					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)			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)			TTTTGTGCGTTTTGTGCAGCC	0.602																																																0													155	138	144					17																	79870320		2203	4299	6502	SO:0001583	missense	51547			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.1175A>G	chr17.hg19:g.79870320T>C	ENSP00000329466:p.Lys392Arg		A8K2K0|B3KSU8|Q3MIK4|Q9NSZ6|Q9NUS6	Missense_Mutation	SNP	ENST00000328666.6	hg19	CCDS11792.1	.	.	.	.	.	.	.	.	.	.	T	28.4	4.918735	0.92249	.	.	ENSG00000187531	ENST00000328666	T	0.38240	1.15	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.56906	0.2017	M	0.67953	2.075	0.54753	D	0.999987	D;D	0.63880	0.993;0.993	D;D	0.72625	0.978;0.978	T	0.61362	-0.7078	10	0.87932	D	0	-14.0698	13.3565	0.60631	0.0:0.0:0.0:1.0	.	392;392	A8K2K0;Q9NRC8	.;SIRT7_HUMAN	R	392	ENSP00000329466:K392R	ENSP00000329466:K392R	K	-	2	0	SIRT7	77463612	1.000000	0.71417	0.911000	0.35937	0.977000	0.68977	6.029000	0.70895	1.996000	0.58369	0.402000	0.26972	AAA		0.602	SIRT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439961.1	NM_016538		C	79870320	T	C	79870320	3	2	770	1	0	0	0	0	1	0	0	0	14349	1841	64	3	31	3	SIRT7	17	79870320	Missense_Mutation	SNP	T	TCGA-O9-A75Z-01A-11D-A33Q-10		79870320	1324890	17	45435											
TSHZ3	57616	hgsc.bcm.edu	37	19	31768683	31768683	+	Silent	SNP	G	G	A	rs373477520		TCGA-O9-A75Z-01A-11D-A33Q-10	TCGA-O9-A75Z-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	11f95391-f644-4b23-b2b3-c3020648260b	b07e7c8d-9fc0-4376-89e2-8ceb9afcaa38	g.chr19:31768683G>A	ENST00000240587.4	-	2	2343	c.2016C>T	c.(2014-2016)agC>agT	p.S672S		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	672					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)					CCCGCGGGGGGCTGGGGCTGT	0.657																																																0								G		1,4391		0,1,2195	22	25	24		2016	0.8	1	19		24	0,8584		0,0,4292	no	coding-synonymous	TSHZ3	NM_020856.2		0,1,6487	AA,AG,GG		0.0,0.0228,0.0077		672/1082	31768683	1,12975	2196	4292	6488	SO:0001819	synonymous_variant	57616			AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	30700	protein-coding gene	gene with protein product	"teashirt 3"	614119	"zinc finger protein 537", "teashirt family zinc finger 3"	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.2016C>T	chr19.hg19:g.31768683G>A			Q9H0G6|Q9P254	Silent	SNP	ENST00000240587.4	hg19	CCDS12421.2																																																																																				0.657	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		A	31768683	G	A	31768683	2	1	770	1	0	0	0	0	0	0	0	1	16630	1194	42	2		2	TSHZ3	19	31768683	Silent	SNP	G	TCGA-O9-A75Z-01A-11D-A33Q-10		31768683	27360300	18	45436											
C20orf195	79025	hgsc.bcm.edu	37	20	62187129	62187129	+	Missense_Mutation	SNP	G	G	T			TCGA-O9-A75Z-01A-11D-A33Q-10	TCGA-O9-A75Z-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	11f95391-f644-4b23-b2b3-c3020648260b	b07e7c8d-9fc0-4376-89e2-8ceb9afcaa38	g.chr20:62187129G>T	ENST00000370098.3	+	2	205	c.113G>T	c.(112-114)tGg>tTg	p.W38L	C20orf195_ENST00000370097.1_Missense_Mutation_p.W38L	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	chromosome 20 open reading frame 195	38						extracellular vesicular exosome (GO:0070062)				large_intestine(3)|lung(4)	7	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)			CCAGAGGCGTGGAAGACCTAC	0.647																																																0													51	47	48					20																	62187129		2203	4300	6503	SO:0001583	missense	79025				CCDS13526.1	20q13.33	2014-02-12			ENSG00000125531	ENSG00000125531			28764	protein-coding gene	gene with protein product						12477932	Standard	NM_024059		Approved	MGC5356	uc002yfj.3	Q9BVV2	OTTHUMG00000032980	ENST00000370098.3:c.113G>T	chr20.hg19:g.62187129G>T	ENSP00000359116:p.Trp38Leu			Missense_Mutation	SNP	ENST00000370098.3	hg19	CCDS13526.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.877757	0.51801	.	.	ENSG00000125531	ENST00000370098;ENST00000370097	.	.	.	5.26	5.26	0.73747	.	0.000000	0.47093	D	0.000260	T	0.66703	0.2816	L	0.29908	0.895	0.41621	D	0.988965	D	0.89917	1.0	D	0.87578	0.998	T	0.70070	-0.4973	9	0.62326	D	0.03	-15.2825	16.61	0.84880	0.0:0.0:1.0:0.0	.	38	Q9BVV2	CT195_HUMAN	L	38	.	ENSP00000359115:W38L	W	+	2	0	C20orf195	61657573	1.000000	0.71417	0.991000	0.47740	0.053000	0.15095	4.172000	0.58243	2.444000	0.82710	0.655000	0.94253	TGG		0.647	C20orf195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080155.1	NM_024059		T	62187129	G	T	62187129	3	4	770	1	0	0	0	0	1	0	0	0	2102	1357	47	4	115	4	C20orf195	20	62187129	Missense_Mutation	SNP	G	TCGA-O9-A75Z-01A-11D-A33Q-10		62187129	838391	19	45437											
TRAPPC10	7109	hgsc.bcm.edu	37	21	45518268	45518268	+	Missense_Mutation	SNP	C	C	A			TCGA-O9-A75Z-01A-11D-A33Q-10	TCGA-O9-A75Z-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	11f95391-f644-4b23-b2b3-c3020648260b	b07e7c8d-9fc0-4376-89e2-8ceb9afcaa38	g.chr21:45518268C>A	ENST00000291574.4	+	21	3374	c.3199C>A	c.(3199-3201)Ccc>Acc	p.P1067T		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	1067					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						TGAGATCTTTCCCCCTTCGGG	0.483																																																0													160	154	156					21																	45518268		2203	4300	6503	SO:0001583	missense	7109			U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"Trafficking protein particle complex"	11868	protein-coding gene	gene with protein product	"trafficking protein particle complex subunit 130", "TRAPP 130 kDa subunit"	602103	"transmembrane protein 1"	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.3199C>A	chr21.hg19:g.45518268C>A	ENSP00000291574:p.Pro1067Thr		Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Missense_Mutation	SNP	ENST00000291574.4	hg19	CCDS13704.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.867157	0.91511	.	.	ENSG00000160218	ENST00000291574;ENST00000542855	T	0.27104	1.69	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.45418	0.1341	L	0.47190	1.495	0.80722	D	1	D;D;D	0.59357	0.981;0.985;0.966	D;D;P	0.65233	0.91;0.933;0.773	T	0.12604	-1.0541	10	0.46703	T	0.11	.	19.8608	0.96783	0.0:1.0:0.0:0.0	.	172;326;1067	B4DV34;B4DI17;P48553	.;.;TPC10_HUMAN	T	1067;198	ENSP00000291574:P1067T	ENSP00000291574:P1067T	P	+	1	0	TRAPPC10	44342696	1.000000	0.71417	0.174000	0.22961	0.192000	0.23643	6.845000	0.75394	2.763000	0.94921	0.655000	0.94253	CCC		0.483	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1	NM_003274		A	45518268	C	A	45518268	3	1	770	1	0	0	0	0	1	0	0	0	16462	855	30	4	3281	4	TRAPPC10	21	45518268	Missense_Mutation	SNP	C	TCGA-O9-A75Z-01A-11D-A33Q-10		45518268	2611627	20	45438											
MYO18B	84700	hgsc.bcm.edu	37	22	26348362	26348362	+	Missense_Mutation	SNP	C	C	G			TCGA-O9-A75Z-01A-11D-A33Q-10	TCGA-O9-A75Z-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	11f95391-f644-4b23-b2b3-c3020648260b	b07e7c8d-9fc0-4376-89e2-8ceb9afcaa38	g.chr22:26348362C>G	ENST00000407587.2	+	38	6115	c.5946C>G	c.(5944-5946)ttC>ttG	p.F1982L	MYO18B_ENST00000335473.7_Missense_Mutation_p.F1981L|MYO18B_ENST00000536101.1_Missense_Mutation_p.F1981L			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1981	Tail.					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						AGACAGAGTTCCAGAAGGTGC	0.507																																																0													68	72	70					22																	26348362		2022	4201	6223	SO:0001583	missense	84700			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.5946C>G	chr22.hg19:g.26348362C>G	ENSP00000386096:p.Phe1982Leu		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	hg19		.	.	.	.	.	.	.	.	.	.	C	17.33	3.363118	0.61513	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.86497	-2.1;-2.1;-2.13	5.49	4.48	0.54585	.	0.000000	0.85682	D	0.000000	D	0.90407	0.6997	M	0.62016	1.91	0.39328	D	0.965364	P;P;D;P	0.89917	0.929;0.576;1.0;0.701	P;B;D;B	0.85130	0.597;0.073;0.997;0.153	D	0.87861	0.2664	10	0.12766	T	0.61	.	11.4231	0.49993	0.0:0.85:0.0:0.15	.	1494;1981;1982;1981	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	L	1981;1981;1982	ENSP00000441229:F1981L;ENSP00000334563:F1981L;ENSP00000386096:F1982L	ENSP00000334563:F1981L	F	+	3	2	MYO18B	24678362	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.324000	0.33712	1.337000	0.45525	0.655000	0.94253	TTC		0.507	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		G	26348362	C	G	26348362	3	3	770	1	0	0	0	0	1	0	0	0	10068	854	30	4	6089	4	MYO18B	22	26348362	Missense_Mutation	SNP	C	TCGA-O9-A75Z-01A-11D-A33Q-10		26348362	24956204	21	45439											
GNB1	2782	hgsc.bcm.edu	37	1	1720557	1720557	+	Missense_Mutation	SNP	A	A	C			TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr1:1720557A>C	ENST00000378609.4	-	10	1182	c.851T>G	c.(850-852)cTc>cGc	p.L284R		NM_001282539.1|NM_002074.3	NP_001269468.1|NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1	284					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|blood coagulation (GO:0007596)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|GTP catabolic process (GO:0006184)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	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;5.62e-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;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		AGCAAGGAGGAGGCGCCCGCT	0.572											OREG0012998	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													100	94	96					1																	1720557		2203	4300	6503	SO:0001583	missense	2782			BC004186	CCDS34.1, CCDS72685.1	1p36.33	2013-01-10			ENSG00000078369	ENSG00000078369		"WD repeat domain containing"	4396	protein-coding gene	gene with protein product		139380					Standard	NM_002074		Approved		uc001aif.3	P62873	OTTHUMG00000000940	ENST00000378609.4:c.851T>G	chr1.hg19:g.1720557A>C	ENSP00000367872:p.Leu284Arg	598	B1AJZ7|P04697|P04901|Q1RMY8	Missense_Mutation	SNP	ENST00000378609.4	hg19	CCDS34.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.4|22.4	4.290122|4.290122	0.80914|0.80914	.|.	.|.	ENSG00000078369|ENSG00000078369	ENST00000378609;ENST00000455156;ENST00000378606|ENST00000424622	T|.	0.62105|.	0.05|.	5.52|5.52	5.52|5.52	0.82312|0.82312	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76528|0.76528	0.4000|0.4000	M|M	0.80847|0.80847	2.515|2.515	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.81914|.	0.995|.	T|T	0.78219|0.78219	-0.2289|-0.2289	10|5	0.51188|.	T|.	0.08|.	-9.8798|-9.8798	14.8181|14.8181	0.70050|0.70050	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	284|.	P62873|.	GBB1_HUMAN|.	R|A	284;184;284|142	ENSP00000367872:L284R|.	ENSP00000367869:L284R|.	L|S	-|-	2|1	0|0	GNB1|GNB1	1710417|1710417	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.885000|0.885000	0.51271|0.51271	9.126000|9.126000	0.94411|0.94411	2.096000|2.096000	0.63516|0.63516	0.533000|0.533000	0.62120|0.62120	CTC|TCC		0.572	GNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002762.3	NM_002074		C	1720557	A	C	1720557	3	2	771	1	0	0	0	0	1	0	0	0	6517	304	11	5	179	5	GNB1	1	1720557	Missense_Mutation	SNP	A	TCGA-P4-A5E6-01A-11D-A28G-10		1720557	247530064	1	45440											
DNAJC16	23341	hgsc.bcm.edu	37	1	15855696	15855696	+	Missense_Mutation	SNP	A	A	C			TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr1:15855696A>C	ENST00000375847.3	+	2	260	c.96A>C	c.(94-96)agA>agC	p.R32S	CASP9_ENST00000469637.1_5'Flank|DNAJC16_ENST00000375838.1_Missense_Mutation_p.R32S|DNAJC16_ENST00000375849.1_Missense_Mutation_p.R32S	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	32	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				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)		ACCCATACAGAGTCCTAGGGG	0.443																																																0													109	107	108					1																	15855696		2203	4300	6503	SO:0001583	missense	23341			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.96A>C	chr1.hg19:g.15855696A>C	ENSP00000365007:p.Arg32Ser		Q68D57|Q86X32|Q8N5P4	Missense_Mutation	SNP	ENST00000375847.3	hg19	CCDS30606.1	.	.	.	.	.	.	.	.	.	.	A	14.92	2.678494	0.47886	.	.	ENSG00000116138	ENST00000375847;ENST00000375838;ENST00000375849;ENST00000546230	T;T;T	0.72282	-0.64;-0.64;-0.64	5.41	5.41	0.78517	Heat shock protein DnaJ, N-terminal (5);	0.092613	0.64402	D	0.000001	T	0.41465	0.1160	N	0.02111	-0.68	0.24628	N	0.99364	B;B	0.28208	0.166;0.203	B;B	0.24848	0.056;0.052	T	0.29518	-1.0009	10	0.38643	T	0.18	-23.0336	8.0421	0.30527	0.9101:0.0:0.0899:0.0	.	32;32	Q9Y2G8;Q5TDG9	DJC16_HUMAN;.	S	32	ENSP00000365007:R32S;ENSP00000364998:R32S;ENSP00000365009:R32S	ENSP00000364998:R32S	R	+	3	2	DNAJC16	15728283	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	3.233000	0.51311	2.060000	0.61445	0.460000	0.39030	AGA		0.443	DNAJC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006764.1	NM_015291		C	15855696	A	C	15855696	3	2	771	1	0	0	0	0	1	0	0	0	4637	301	11	5	98	5	DNAJC16	1	15855696	Missense_Mutation	SNP	A	TCGA-P4-A5E6-01A-11D-A28G-10	14135139	15855696	233394925	2	45441											
UBR4	23352	hgsc.bcm.edu	37	1	19500887	19500887	+	Missense_Mutation	SNP	G	G	T			TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr1:19500887G>T	ENST00000375254.3	-	22	2935	c.2908C>A	c.(2908-2910)Ctg>Atg	p.L970M	UBR4_ENST00000375226.2_Missense_Mutation_p.L970M|UBR4_ENST00000375217.2_Missense_Mutation_p.L970M|UBR4_ENST00000375267.2_Missense_Mutation_p.L970M	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	970					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)		AGGGCTGTCAGTGCAGCATAA	0.438																																																0													120	102	108					1																	19500887		2203	4300	6503	SO:0001583	missense	23352			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.2908C>A	chr1.hg19:g.19500887G>T	ENSP00000364403:p.Leu970Met		A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	hg19	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	15.95	2.982527	0.53827	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000419533	T;T;T;T	0.36699	1.26;1.26;1.24;1.24	5.76	-1.65	0.08291	.	0.000000	0.64402	D	0.000001	T	0.44371	0.1290	L	0.39898	1.24	0.80722	D	1	D	0.65815	0.995	D	0.70487	0.969	T	0.26467	-1.0102	10	0.87932	D	0	.	11.0624	0.47955	0.5235:0.0:0.4765:0.0	.	970	Q5T4S7	UBR4_HUMAN	M	970;970;970;970;186	ENSP00000364403:L970M;ENSP00000364416:L970M;ENSP00000364365:L970M;ENSP00000364374:L970M	ENSP00000364365:L970M	L	-	1	2	UBR4	19373474	0.850000	0.29656	0.011000	0.14972	0.823000	0.46562	1.167000	0.31847	-0.623000	0.05618	-0.768000	0.03414	CTG		0.438	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		T	19500887	G	T	19500887	3	4	771	1	0	0	0	0	1	0	0	0	16909	1020	36	4	12983	4	UBR4	1	19500887	Missense_Mutation	SNP	G	TCGA-P4-A5E6-01A-11D-A28G-10	3645191	19500887	229749734	3	45442											
USP48	84196	hgsc.bcm.edu	37	1	22073615	22073615	+	Silent	SNP	A	A	G			TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr1:22073615A>G	ENST00000308271.9	-	8	1584	c.936T>C	c.(934-936)aaT>aaC	p.N312N	USP48_ENST00000400301.1_Silent_p.N312N|USP48_ENST00000421625.2_Silent_p.N312N|USP48_ENST00000529637.1_Silent_p.N312N	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	312	USP.				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)		CAATGTAGGTATTCAGCTTTT	0.313																																																0													94	91	92					1																	22073615		2203	4300	6503	SO:0001819	synonymous_variant	84196			AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"Ubiquitin-specific peptidases"	18533	protein-coding gene	gene with protein product			"ubiquitin specific protease 31", "ubiquitin specific protease 48"	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.936T>C	chr1.hg19:g.22073615A>G			B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Silent	SNP	ENST00000308271.9	hg19	CCDS30623.1																																																																																				0.313	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021372.1	NM_032236		G	22073615	A	G	22073615	2	3	771	1	0	0	0	0	0	0	0	1	17084	446	16	3		3	USP48	1	22073615	Silent	SNP	A	TCGA-P4-A5E6-01A-11D-A28G-10	2572728	22073615	227177006	4	45443											
MECR	51102	hgsc.bcm.edu	37	1	29520638	29520638	+	Missense_Mutation	SNP	G	G	C			TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr1:29520638G>C	ENST00000263702.6	-	10	1043	c.1018C>G	c.(1018-1020)Ctc>Gtc	p.L340V	MECR_ENST00000373791.3_Missense_Mutation_p.L264V			Q9BV79	MECR_HUMAN	mitochondrial trans-2-enoyl-CoA reductase	340					fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		GGGGCTGTGAGCTGGCCTCGG	0.572																																																0													102	109	107					1																	29520638		2203	4300	6503	SO:0001583	missense	51102				CCDS30659.1, CCDS30660.1	1p35.3	2012-09-20			ENSG00000116353	ENSG00000116353	1.3.1.38		19691	protein-coding gene	gene with protein product	"nuclear receptor binding factor 1", "mitochondrial 2-enoyl thioester reductase"	608205				9795230, 12654921	Standard	XM_005245885		Approved	CGI-63, NRBF1, FASN2B	uc001brq.1	Q9BV79	OTTHUMG00000059082	ENST00000263702.6:c.1018C>G	chr1.hg19:g.29520638G>C	ENSP00000263702:p.Leu340Val		B3KT72|Q5SYU0|Q5SYU1|Q5SYU2|Q6IBU9|Q9Y373	Missense_Mutation	SNP	ENST00000263702.6	hg19	CCDS30659.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.554761	0.65425	.	.	ENSG00000116353	ENST00000373791;ENST00000263702	T;T	0.05199	3.48;3.49	5.48	5.48	0.80851	NAD(P)-binding domain (1);	0.133396	0.53938	D	0.000051	T	0.27169	0.0666	M	0.88181	2.935	0.58432	D	0.999999	P	0.45348	0.856	P	0.55749	0.783	T	0.01583	-1.1319	10	0.59425	D	0.04	.	16.849	0.85988	0.0:0.0:1.0:0.0	.	340	Q9BV79	MECR_HUMAN	V	264;340	ENSP00000362896:L264V;ENSP00000263702:L340V	ENSP00000263702:L340V	L	-	1	0	MECR	29393225	1.000000	0.71417	1.000000	0.80357	0.411000	0.31082	6.509000	0.73725	2.584000	0.87258	0.563000	0.77884	CTC		0.572	MECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130740.1	NM_016011		C	29520638	G	C	29520638	3	2	771	1	0	0	0	0	1	0	0	0	9426	971	34	4	107	4	MECR	1	29520638	Missense_Mutation	SNP	G	TCGA-P4-A5E6-01A-11D-A28G-10	7447023	29520638	219729983	5	45444											
INADL	10207	hgsc.bcm.edu	37	1	62271194	62271194	+	Missense_Mutation	SNP	A	A	G			TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr1:62271194A>G	ENST00000371158.2	+	13	1738	c.1624A>G	c.(1624-1626)Atg>Gtg	p.M542V	INADL_ENST00000316485.6_Missense_Mutation_p.M542V	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	542					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						TTATGAAGTAATGGTATGTTA	0.358																																																0													93	99	97					1																	62271194		2203	4300	6503	SO:0001583	missense	10207			AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.1624A>G	chr1.hg19:g.62271194A>G	ENSP00000360200:p.Met542Val		O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	ENST00000371158.2	hg19	CCDS617.2	.	.	.	.	.	.	.	.	.	.	A	17.77	3.472247	0.63737	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000255202	T;T	0.08546	3.27;3.08	5.69	5.69	0.88448	PDZ/DHR/GLGF (1);	0.057835	0.64402	D	0.000002	T	0.21186	0.0510	M	0.62723	1.935	0.80722	D	1	D;D;P	0.67145	0.996;0.986;0.488	D;D;P	0.77557	0.99;0.965;0.508	T	0.08868	-1.0701	10	0.02654	T	1	.	14.5128	0.67800	1.0:0.0:0.0:0.0	.	542;542;542	F8W8T2;Q8NI35;Q8NI35-4	.;INADL_HUMAN;.	V	542	ENSP00000360200:M542V;ENSP00000326199:M542V	ENSP00000255202:M542V	M	+	1	0	INADL	62043782	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.401000	0.52601	2.174000	0.68829	0.528000	0.53228	ATG		0.358	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		G	62271194	A	G	62271194	3	3	771	1	0	0	0	0	1	0	0	0	7733	101	4	3	1670	3	INADL	1	62271194	Missense_Mutation	SNP	A	TCGA-P4-A5E6-01A-11D-A28G-10	32750556	62271194	186979427	6	45445											
CCDC18	343099	hgsc.bcm.edu	37	1	93705010	93705043	+	Splice_Site	DEL	TAGAAAAGAAAACAAATGCTGGTAAGCAAGTGGT	TAGAAAAGAAAACAAATGCTGGTAAGCAAGTGGT	-	rs550574161		TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	TAGAAAAGAAAACAAATGCTGGTAAGCAAGTGGT	TAGAAAAGAAAACAAATGCTGGTAAGCAAGTGGT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr1:93705010_93705043delTAGAAAAGAAAACAAATGCTGGTAAGCAAGTGGT	ENST00000343253.7	+	20	3246_3266	c.2744_2764delTAGAAAAGAAAACAAATGCTGGTAAGCAAGTGGT	c.(2743-2766)ctagaaaagaaaacaaatgctggt>cgt	p.LEKKTNAG915fs	CCDC18_ENST00000421014.2_3'UTR|CCDC18_ENST00000557479.1_Splice_Site_p.LEKKTNAG1034fs|CCDC18_ENST00000334652.5_Splice_Site_p.LEKKTNAG211fs|CCDC18_ENST00000401026.3_Splice_Site_p.LEKKTNAG916fs|CCDC18_ENST00000338949.4_Splice_Site_p.LEKKTNAG671fs			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	915										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		AAGACAGAGCTAGAAAAGAAAACAAATGCTGGTAAGCAAGTGGTTAGATGAGTA	0.363																																																0																																										SO:0001630	splice_region_variant	343099					1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.2764+1TAGAAAAGAAAACAAATGCTGGTAAGCAAGTGGT>-	chr1.hg19:g.93705010_93705043delTAGAAAAGAAAACAAATGCTGGTAAGCAAGTGGT			Q6ZU17	Frame_Shift_Del	DEL	ENST00000343253.7	hg19																																																																																					0.363	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000382327.1	NM_206886	Frame_Shift_Del	-	93705043	TAGAAAAGAAAACAAATGCTGGTAAGCAAGTGGT	-	93705010	8	5	771	1	0	1	0	1	0	0	1	0	2796	1522	53	0	3179	0	CCDC18	1	93705010	Splice_Site	DEL	TAGAAAAGAAAACAAATGCTGGTAAGCAAGTGGT	TCGA-P4-A5E6-01A-11D-A28G-10	31433816	93705010	155545611	7	45446											
PRMT6	55170	hgsc.bcm.edu	37	1	107599742	107599742	+	Silent	SNP	C	C	T			TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr1:107599742C>T	ENST00000370078.1	+	1	442	c.405C>T	c.(403-405)gtC>gtT	p.V135V	PRMT6_ENST00000361318.5_Silent_p.V76V			Q96LA8	ANM6_HUMAN	protein arginine methyltransferase 6	135	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				base-excision repair (GO:0006284)|histone H3-R2 methylation (GO:0034970)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	histone binding (GO:0042393)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H2A-R3 specific) (GO:0070612)|histone methyltransferase activity (H3-R2 specific) (GO:0070611)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)			biliary_tract(1)|breast(2)|kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	14		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)		GGGTGCACGTCCTGCCGGGAC	0.672																																																0													72	85	81					1																	107599742		2178	4281	6459	SO:0001819	synonymous_variant	55170			AK001421	CCDS41360.1, CCDS41360.2	1p13.2	2008-02-05	2006-02-16	2006-02-16	ENSG00000198890	ENSG00000198890		"Protein arginine methyltransferases"	18241	protein-coding gene	gene with protein product		608274	"HMT1 hnRNP methyltransferase-like 6 (S. cerevisiae)"	HRMT1L6		11724789	Standard	NM_018137		Approved	FLJ10559	uc010ous.2	Q96LA8	OTTHUMG00000010964	ENST00000370078.1:c.405C>T	chr1.hg19:g.107599742C>T			A3KME1|B4DID8|Q5T5Y5|Q6DKI4|Q9NVR8	Silent	SNP	ENST00000370078.1	hg19	CCDS41360.2	.	.	.	.	.	.	.	.	.	.	C	5.305	0.241690	0.10077	.	.	ENSG00000198890	ENST00000540389	.	.	.	5.75	1.4	0.22301	.	.	.	.	.	T	0.48537	0.1505	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53753	-0.8394	5	0.87932	D	0	-18.1897	6.1728	0.20427	0.0:0.3898:0.4219:0.1884	.	.	.	.	S	29	.	ENSP00000440829:P29S	P	+	1	0	PRMT6	107401265	0.574000	0.26684	0.997000	0.53966	0.007000	0.05969	-0.426000	0.07008	0.714000	0.32081	0.544000	0.68410	CCT		0.672	PRMT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030185.1	NM_018137		T	107599742	C	T	107599742	2	4	771	1	0	0	0	0	0	0	0	1	12545	842	30	2		2	PRMT6	1	107599742	Silent	SNP	C	TCGA-P4-A5E6-01A-11D-A28G-10	13894732	107599742	141650879	8	45447											
CRNN	49860	hgsc.bcm.edu	37	1	152384603	152384603	+	Missense_Mutation	SNP	A	A	G			TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr1:152384603A>G	ENST00000271835.3	-	2	169	c.107T>C	c.(106-108)cTc>cCc	p.L36P	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	36					response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGCTCCAAGAGTCTTTTCAG	0.557																																																0													152	132	139					1																	152384603		2203	4300	6503	SO:0001583	missense	49860			AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"EF-hand domain containing"	1230	protein-coding gene	gene with protein product		611312	"chromosome 1 open reading frame 10"	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.107T>C	chr1.hg19:g.152384603A>G	ENSP00000271835:p.Leu36Pro		B2RE60|Q8N613	Missense_Mutation	SNP	ENST00000271835.3	hg19	CCDS1010.1	.	.	.	.	.	.	.	.	.	.	A	17.97	3.518486	0.64634	.	.	ENSG00000143536	ENST00000271835;ENST00000451038	T	0.36340	1.26	4.78	3.65	0.41850	S100/CaBP-9k-type, calcium binding, subdomain (1);EF-hand-like domain (1);	0.164580	0.29021	N	0.013391	T	0.54175	0.1842	M	0.92507	3.315	0.51233	D	0.999918	D	0.89917	1.0	D	0.80764	0.994	T	0.61652	-0.7019	10	0.87932	D	0	.	7.0943	0.25301	0.8983:0.0:0.1017:0.0	.	36	Q9UBG3	CRNN_HUMAN	P	36	ENSP00000271835:L36P	ENSP00000271835:L36P	L	-	2	0	CRNN	150651227	0.903000	0.30736	0.739000	0.30968	0.985000	0.73830	3.133000	0.50531	0.861000	0.35504	0.482000	0.46254	CTC		0.557	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	NM_016190		G	152384603	A	G	152384603	3	3	771	1	0	0	0	0	1	0	0	0	3894	304	11	3	1388	3	CRNN	1	152384603	Missense_Mutation	SNP	A	TCGA-P4-A5E6-01A-11D-A28G-10	44784861	152384603	96866018	9	45448											
DENND4B	9909	hgsc.bcm.edu	37	1	153907287	153907287	+	Missense_Mutation	SNP	G	G	C	rs3835302|rs199597671		TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr1:153907287G>C	ENST00000361217.4	-	18	3140	c.2722C>G	c.(2722-2724)Cag>Gag	p.Q908E	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	908	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)			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)			tcctgctgctgctgctgctgc	0.632																																																0													23	27	26					1																	153907287		2184	4281	6465	SO:0001583	missense	9909			AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"DENN/MADD domain containing"	29044	protein-coding gene	gene with protein product			"KIAA0476"	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.2722C>G	chr1.hg19:g.153907287G>C	ENSP00000354597:p.Gln908Glu		Q5T4K0	Missense_Mutation	SNP	ENST00000361217.4	hg19	CCDS44228.1	.	.	.	.	.	.	.	.	.	.	G	1.785	-0.481073	0.04383	.	.	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.06294	3.33;3.32	2.67	0.673	0.17941	.	5.053470	0.00166	N	0.000001	T	0.00815	0.0027	N	0.14661	0.345	0.19300	N	0.999977	B	0.02656	0.0	B	0.04013	0.001	T	0.26573	-1.0099	10	0.02654	T	1	-2.4288	3.3651	0.07201	0.1454:0.0:0.5849:0.2697	.	908	O75064	DEN4B_HUMAN	E	908;919	ENSP00000354597:Q908E;ENSP00000357635:Q919E	ENSP00000354597:Q908E	Q	-	1	0	DENND4B	152173911	0.943000	0.32029	0.986000	0.45419	0.760000	0.43138	0.537000	0.23144	0.194000	0.20326	0.271000	0.19318	CAG		0.632	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		C	153907287	G	C	153907287	3	2	771	1	0	0	0	0	1	0	0	0	4436	1328	46	4	1812	4	DENND4B	1	153907287	Missense_Mutation	SNP	G	TCGA-P4-A5E6-01A-11D-A28G-10	1522684	153907287	95343334	10	45449											
HDGF	3068	hgsc.bcm.edu	37	1	156713547	156713547	+	Missense_Mutation	SNP	C	C	T	rs375226201		TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr1:156713547C>T	ENST00000357325.5	-	5	927	c.613G>A	c.(613-615)Ggc>Agc	p.G205S	HDGF_ENST00000368206.5_Missense_Mutation_p.G221S|MRPL24_ENST00000361531.2_5'Flank|MRPL24_ENST00000368211.4_5'Flank|HDGF_ENST00000368209.5_Missense_Mutation_p.G198S|HDGF_ENST00000465180.1_5'UTR|HDGF_ENST00000416666.2_Missense_Mutation_p.G173S|HDGF_ENST00000537739.1_Missense_Mutation_p.G205S	NM_004494.2	NP_004485.1	P51858	HDGF_HUMAN	hepatoma-derived growth factor	205	Glu-rich.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription corepressor binding (GO:0001222)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)		Colorectal(1306;0.018)		CGGCCAGAGCCGGGCTCAGAG	0.587																																																0								C	SER/GLY,SER/GLY,SER/GLY	0,4406		0,0,2203	30	33	32		661,592,613	0.6	0.1	1		32	1,8599		0,1,4299	no	missense,missense,missense	HDGF	NM_001126050.1,NM_001126051.1,NM_004494.2	56,56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	221/257,198/234,205/241	156713547	1,13005	2203	4300	6503	SO:0001583	missense	3068			D16431	CCDS1156.1, CCDS44247.1, CCDS44248.1	1q23.1	2013-10-14	2010-03-19		ENSG00000143321	ENSG00000143321			4856	protein-coding gene	gene with protein product	"high-mobility group protein 1-like"	600339	"hepatoma-derived growth factor (high-mobility group protein 1-like)"			8833162	Standard	NM_004494		Approved	HMG1L2	uc001fpy.4	P51858	OTTHUMG00000041295	ENST00000357325.5:c.613G>A	chr1.hg19:g.156713547C>T	ENSP00000349878:p.Gly205Ser		B3KU21|D3DVC9|Q5SZ07|Q5SZ08|Q5SZ09	Missense_Mutation	SNP	ENST00000357325.5	hg19	CCDS1156.1	.	.	.	.	.	.	.	.	.	.	C	10.45	1.352591	0.24512	0.0	1.16E-4	ENSG00000143321	ENST00000357325;ENST00000368209;ENST00000537739;ENST00000416666;ENST00000368206;ENST00000406805	T;T;T;T;T	0.30448	2.05;1.56;2.05;1.6;1.53	4.55	0.546	0.17196	.	1.032050	0.07707	N	0.941443	T	0.06280	0.0162	L	0.34521	1.04	0.09310	N	1	B;B;B;B	0.28291	0.206;0.206;0.034;0.014	B;B;B;B	0.14023	0.01;0.01;0.004;0.002	T	0.38628	-0.9652	10	0.15952	T	0.53	-2.1192	6.8306	0.23907	0.0:0.6085:0.0:0.3915	.	180;221;198;205	B7Z958;Q5SZ07;Q5SZ08;P51858	.;.;.;HDGF_HUMAN	S	205;198;205;173;221;228	ENSP00000349878:G205S;ENSP00000357192:G198S;ENSP00000443120:G205S;ENSP00000416752:G173S;ENSP00000357189:G221S	ENSP00000349878:G205S	G	-	1	0	HDGF	154980171	0.000000	0.05858	0.089000	0.20774	0.788000	0.44548	-0.589000	0.05767	-0.053000	0.13289	0.456000	0.33151	GGC		0.587	HDGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098946.1	NM_004494		T	156713547	C	T	156713547	3	4	771	1	0	0	0	0	1	0	0	0	7020	652	23	1	117	1	HDGF	1	156713547	Missense_Mutation	SNP	C	TCGA-P4-A5E6-01A-11D-A28G-10	2806260	156713547	92537074	11	45450											
IPO9	55705	hgsc.bcm.edu	37	1	201842054	201842054	+	Missense_Mutation	SNP	A	A	C			TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr1:201842054A>C	ENST00000361565.4	+	20	2744	c.2675A>C	c.(2674-2676)gAt>gCt	p.D892A		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	892					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						TACAGCATGGATGAGGGCATC	0.532																																																0													97	88	91					1																	201842054		2203	4300	6503	SO:0001583	missense	55705			AF410465	CCDS1415.1	1q31.3	2008-02-05			ENSG00000198700	ENSG00000198700		"Importins"	19425	protein-coding gene	gene with protein product						11823430, 10574461	Standard	NM_018085		Approved	Imp9, FLJ10402	uc001gwz.3	Q96P70	OTTHUMG00000035805	ENST00000361565.4:c.2675A>C	chr1.hg19:g.201842054A>C	ENSP00000354742:p.Asp892Ala		B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8	Missense_Mutation	SNP	ENST00000361565.4	hg19	CCDS1415.1	.	.	.	.	.	.	.	.	.	.	A	15.53	2.859721	0.51376	.	.	ENSG00000198700	ENST00000361565	.	.	.	5.23	5.23	0.72850	Armadillo-like helical (1);Armadillo-type fold (1);	0.136301	0.64402	D	0.000004	T	0.40498	0.1119	N	0.17723	0.515	0.80722	D	1	B	0.17038	0.02	B	0.16722	0.016	T	0.26677	-1.0096	9	0.12103	T	0.63	-31.3306	13.3919	0.60829	1.0:0.0:0.0:0.0	.	892	Q96P70	IPO9_HUMAN	A	892	.	ENSP00000354742:D892A	D	+	2	0	IPO9	200108677	1.000000	0.71417	0.990000	0.47175	0.998000	0.95712	8.726000	0.91474	2.107000	0.64212	0.533000	0.62120	GAT		0.532	IPO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087088.1	NM_018085		C	201842054	A	C	201842054	3	2	771	1	0	0	0	0	1	0	0	0	7801	333	12	5	2753	5	IPO9	1	201842054	Missense_Mutation	SNP	A	TCGA-P4-A5E6-01A-11D-A28G-10	45128507	201842054	47408567	12	45451											
YOD1	55432	hgsc.bcm.edu	37	1	207222409	207222409	+	Frame_Shift_Del	DEL	C	C	-			TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr1:207222409delC	ENST00000315927.4	-	2	1049	c.1003delG	c.(1003-1005)gaafs	p.E335fs	YOD1_ENST00000391927.1_Frame_Shift_Del_p.E291fs|PFKFB2_ENST00000411990.2_5'Flank|YOD1_ENST00000367084.1_Frame_Shift_Del_p.E291fs	NM_018566.3	NP_061036.3	Q5VVQ6	OTU1_HUMAN	YOD1 deubiquitinase	335					cellular amino acid metabolic process (GO:0006520)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein K11-linked deubiquitination (GO:0035871)|protein K27-linked deubiquitination (GO:1990167)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)		Lys48-specific deubiquitinase activity (GO:1990380)|metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			cervix(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(3)	11	Prostate(682;0.19)					TTGGCATGTTCCCTTGCTTCT	0.478																																																0													271	251	257					1																	207222409		2203	4300	6503	SO:0001589	frameshift_variant	55432				CCDS31002.1, CCDS60402.1	1q32.2	2013-06-04	2013-06-04		ENSG00000180667	ENSG00000180667		"OTU domain containing"	25035	protein-coding gene	gene with protein product		612023	"YOD1 OTU deubiquinating enzyme 1 homolog ( yeast)", "YOD1 OTU deubiquinating enzyme 1 homolog (S. cerevisiae)"				Standard	NM_001276320		Approved	DKFZp451J1719, OTUD2, DUBA8	uc001hfe.1	Q5VVQ6	OTTHUMG00000036032	ENST00000315927.4:c.1003delG	chr1.hg19:g.207222409delC	ENSP00000326813:p.Glu335fs		B2RNX3|Q5VVQ5|Q6ZRS6|Q86T63|Q9P1L8	Frame_Shift_Del	DEL	ENST00000315927.4	hg19	CCDS31002.1																																																																																				0.478	YOD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087837.1	NM_018566		-	207222409	C	-	207222409	7	5	771	1	0	1	0	1	0	0	0	0	17493	864	30	0	47	0	YOD1	1	207222409	Frame_Shift_Del	DEL	C	TCGA-P4-A5E6-01A-11D-A28G-10	5380355	207222409	42028212	13	45452											
CENPF	1063	hgsc.bcm.edu	37	1	214813548	214813548	+	Nonsense_Mutation	SNP	A	A	T			TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr1:214813548A>T	ENST00000366955.3	+	12	2035	c.1867A>T	c.(1867-1869)Aaa>Taa	p.K623*		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0					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)		TTCTTGTTGGAAAAGTGAAAA	0.333																																					Colon(80;575 1284 11000 14801 43496)											0													32	37	36					1																	214813548		2198	4298	6496	SO:0001587	stop_gained	1063			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"mitosin"	600236	"centromere protein F, 350/400kDa (mitosin)"			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.1867A>T	chr1.hg19:g.214813548A>T	ENSP00000355922:p.Lys623*		Q13171|Q13246|Q5VVM7	Nonsense_Mutation	SNP	ENST00000366955.3	hg19	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	A	40	8.443638	0.98813	.	.	ENSG00000117724	ENST00000366955	.	.	.	5.6	5.6	0.85130	.	0.000000	0.39407	N	0.001364	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.7907	0.78357	1.0:0.0:0.0:0.0	.	.	.	.	X	623	.	ENSP00000355922:K623X	K	+	1	0	CENPF	212880171	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.770000	0.85390	2.126000	0.65437	0.443000	0.29094	AAA		0.333	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		T	214813548	A	T	214813548	4	4	771	1	0	0	0	0	0	1	0	0	3233	247	9	5	1909	5	CENPF	1	214813548	Nonsense_Mutation	SNP	A	TCGA-P4-A5E6-01A-11D-A28G-10	7591139	214813548	34437073	14	45453											
EPRS	2058	hgsc.bcm.edu	37	1	220154162	220154162	+	Missense_Mutation	SNP	G	G	C			TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr1:220154162G>C	ENST00000366923.3	-	25	3760	c.3491C>G	c.(3490-3492)aCt>aGt	p.T1164S		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	1164	Proline--tRNA ligase.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	AAATTCACGAGTACGTAGGAA	0.388																																																0													64	60	61					1																	220154162		2203	4300	6503	SO:0001583	missense	2058			X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"Aminoacyl tRNA synthetases / Class I", "Aminoacyl tRNA synthetases / Class II"	3418	protein-coding gene	gene with protein product	"glutamate tRNA ligase", "proline tRNA ligase"	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.3491C>G	chr1.hg19:g.220154162G>C	ENSP00000355890:p.Thr1164Ser		A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	ENST00000366923.3	hg19	CCDS31027.1	.	.	.	.	.	.	.	.	.	.	G	32	5.174061	0.94807	.	.	ENSG00000136628	ENST00000366923	T	0.68025	-0.3	6.06	6.06	0.98353	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.000000	0.85682	D	0.000000	T	0.78046	0.4222	L	0.39326	1.205	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76865	-0.2801	10	0.56958	D	0.05	-28.6459	20.6397	0.99537	0.0:0.0:1.0:0.0	.	1164	P07814	SYEP_HUMAN	S	1164	ENSP00000355890:T1164S	ENSP00000355890:T1164S	T	-	2	0	EPRS	218220785	1.000000	0.71417	0.980000	0.43619	0.980000	0.70556	9.577000	0.98196	2.880000	0.98712	0.650000	0.86243	ACT		0.388	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2	NM_004446		C	220154162	G	C	220154162	3	2	771	1	0	0	0	0	1	0	0	0	5193	1029	36	4	1079	4	EPRS	1	220154162	Missense_Mutation	SNP	G	TCGA-P4-A5E6-01A-11D-A28G-10	5340614	220154162	29096459	15	45454											
TLR5	7100	hgsc.bcm.edu	37	1	223285316	223285316	+	Frame_Shift_Del	DEL	C	C	-			TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr1:223285316delC	ENST00000540964.1	-	4	1519	c.1058delG	c.(1057-1059)agtfs	p.S354fs	TLR5_ENST00000342210.6_Frame_Shift_Del_p.S354fs			O60602	TLR5_HUMAN	toll-like receptor 5	354					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)		GAAATTCGAACTGTAAAGTTC	0.353																																																0													93	93	93					1																	223285316		2203	4300	6503	SO:0001589	frameshift_variant	7100				CCDS31033.1	1q32.3-q42	2014-01-29			ENSG00000187554	ENSG00000187554			11851	protein-coding gene	gene with protein product	"Toll/interleukin-1 receptor-like protein 3"	603031	"systemic lupus erythematosus susceptibility 1"	SLEB1		9435236, 16027372	Standard	NM_003268		Approved	TIL3, FLJ10052, MGC126430, MGC126431	uc001hnw.2	O60602	OTTHUMG00000037937	ENST00000540964.1:c.1058delG	chr1.hg19:g.223285316delC	ENSP00000440643:p.Ser354fs		B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Frame_Shift_Del	DEL	ENST00000540964.1	hg19	CCDS31033.1																																																																																				0.353	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003268		-	223285316	C	-	223285316	7	5	771	1	0	1	0	1	0	0	0	0	15959	565	20	0	1522	0	TLR5	1	223285316	Frame_Shift_Del	DEL	C	TCGA-P4-A5E6-01A-11D-A28G-10	3131154	223285316	25965305	16	45455											
C1orf65	164127	hgsc.bcm.edu	37	1	223567036	223567036	+	Silent	SNP	C	C	T	rs369292167	byFrequency	TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr1:223567036C>T	ENST00000366875.3	+	1	322	c.219C>T	c.(217-219)cgC>cgT	p.R73R		NM_152610.2	NP_689823.2	Q8N715	CC185_HUMAN		73	Arg-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)		CTCGCAGGCGCGGGTGCTCAG	0.736													C|||	6	0.00119808	0.0045	0.0	5008	,	,		13138	0.0		0.0	False		,,,				2504	0.0															0								C		15,3615		0,15,1800	4	6	5		219	0.3	0	1		5	0,7554		0,0,3777	no	coding-synonymous	C1orf65	NM_152610.2		0,15,5577	TT,TC,CC		0.0,0.4132,0.1341		73/624	223567036	15,11169	1815	3777	5592	SO:0001819	synonymous_variant	164127																														ENST00000366875.3:c.219C>T	chr1.hg19:g.223567036C>T			Q8N746|Q8NA93	Silent	SNP	ENST00000366875.3	hg19	CCDS1537.1																																																																																				0.736	C1orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092718.1			T	223567036	C	T	223567036	2	4	771	1	0	0	0	0	0	0	0	1	2057	755	27	1		1	C1orf65	1	223567036	Silent	SNP	C	TCGA-P4-A5E6-01A-11D-A28G-10	281720	223567036	25683585	17	45456											
ITPKB	3707	hgsc.bcm.edu	37	1	226924770	226924784	+	In_Frame_Del	DEL	CTTCCTCTTGGCCTC	CTTCCTCTTGGCCTC	-	rs140396711|rs144653273|rs531138740|rs563769960	byFrequency	TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	CTTCCTCTTGGCCTC	CTTCCTCTTGGCCTC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr1:226924770_226924784delCTTCCTCTTGGCCTC	ENST00000272117.3	-	1	375_389	c.376_390delGAGGCCAAGAGGAAG	c.(376-390)gaggccaagaggaagdel	p.EAKRK126del	ITPKB_ENST00000429204.1_In_Frame_Del_p.EAKRK126del|ITPKB_ENST00000366784.1_In_Frame_Del_p.EAKRK126del			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	126					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)	p.A127A(1)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				AGATCCGCAGCTTCCTCTTGGCCTCCTCCGGCCCT	0.656																																					Colon(84;110 1851 5306 33547)											1	Substitution - coding silent(1)	large_intestine(1)																																								SO:0001651	inframe_deletion	3707			AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"inositol 1,4,5-trisphosphate 3-kinase B"			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.376_390delGAGGCCAAGAGGAAG	chr1.hg19:g.226924770_226924784delCTTCCTCTTGGCCTC	ENSP00000272117:p.Glu126_Lys130del		Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	In_Frame_Del	DEL	ENST00000272117.3	hg19	CCDS1555.1																																																																																				0.656	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1	NM_002221		-	226924784	CTTCCTCTTGGCCTC	-	226924770	7	5	771	1	0	1	0	1	0	0	0	0	7920	796	28	0	2478	0	ITPKB	1	226924770	In_Frame_Del	DEL	CTTCCTCTTGGCCTC	TCGA-P4-A5E6-01A-11D-A28G-10	3357734	226924770	22325851	18	45457											
OR2M5	127059	hgsc.bcm.edu	37	1	248309355	248309355	+	Silent	SNP	G	G	A	rs201158893	byFrequency	TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr1:248309355G>A	ENST00000366476.1	+	1	906	c.906G>A	c.(904-906)agG>agA	p.R302R		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	302						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)			GAGCACTCAGGAAAGTGTTAG	0.453													g|||	3	0.000599042	0.0	0.0	5008	,	,		17536	0.0		0.0	False		,,,				2504	0.0031															0													62	58	59					1																	248309355		2203	4300	6503	SO:0001819	synonymous_variant	127059				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.906G>A	chr1.hg19:g.248309355G>A				Silent	SNP	ENST00000366476.1	hg19	CCDS31105.1																																																																																				0.453	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690		A	248309355	G	A	248309355	2	1	771	1	0	0	0	0	0	0	0	1	11015	1165	41	2		2	OR2M5	1	248309355	Silent	SNP	G	TCGA-P4-A5E6-01A-11D-A28G-10	21384585	248309355	941266	19	45458											
MXD1	4084	hgsc.bcm.edu	37	2	70165384	70165384	+	Missense_Mutation	SNP	C	C	G			TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr2:70165384C>G	ENST00000264444.2	+	6	894	c.634C>G	c.(634-636)Cag>Gag	p.Q212E	MXD1_ENST00000465446.1_3'UTR|MXD1_ENST00000540449.1_Missense_Mutation_p.Q202E	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	212					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						AATAAAGCTGCAGGACAGTCA	0.547																																																0													103	101	101					2																	70165384		2203	4300	6503	SO:0001583	missense	4084				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.634C>G	chr2.hg19:g.70165384C>G	ENSP00000264444:p.Gln212Glu		B2R6V8|B7ZLI6|D6W5G2|Q6FI41	Missense_Mutation	SNP	ENST00000264444.2	hg19	CCDS1896.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.677983	0.68042	.	.	ENSG00000059728	ENST00000435990;ENST00000264444;ENST00000540449	T;T;T	0.45276	0.9;0.91;0.91	5.75	5.75	0.90469	.	0.527941	0.22156	N	0.063844	T	0.35537	0.0935	N	0.22421	0.69	0.47214	D	0.999358	B;B;B	0.23316	0.083;0.083;0.083	B;B;B	0.24006	0.05;0.05;0.05	T	0.13072	-1.0523	10	0.66056	D	0.02	.	18.875	0.92331	0.0:1.0:0.0:0.0	.	202;211;212	B7ZLI6;B7ZLI7;Q05195	.;.;MAD1_HUMAN	E	180;212;202	ENSP00000410672:Q180E;ENSP00000264444:Q212E;ENSP00000443935:Q202E	ENSP00000264444:Q212E	Q	+	1	0	MXD1	70018888	1.000000	0.71417	0.999000	0.59377	0.853000	0.48598	5.131000	0.64751	2.866000	0.98385	0.650000	0.86243	CAG		0.547	MXD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251845.3	NM_002357		G	70165384	C	G	70165384	3	3	771	1	0	0	0	0	1	0	0	0	10001	711	25	4	656	4	MXD1	2	70165384	Missense_Mutation	SNP	C	TCGA-P4-A5E6-01A-11D-A28G-10		70165384	173033989	20	45459											
RGPD4	285190	hgsc.bcm.edu	37	2	108488583	108488583	+	Missense_Mutation	SNP	A	A	G			TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr2:108488583A>G	ENST00000408999.3	+	20	4200	c.4123A>G	c.(4123-4125)Aaa>Gaa	p.K1375E	RGPD4_ENST00000354986.4_Missense_Mutation_p.K1375E	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1375	RanBD1 2. {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						TGGTCAATGGAAAGAAAGGGG	0.353																																																0													3	3	3					2																	108488583		568	1292	1860	SO:0001583	missense	285190			BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"Tetratricopeptide (TTC) repeat domain containing"	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.4123A>G	chr2.hg19:g.108488583A>G	ENSP00000386810:p.Lys1375Glu		B9A029	Missense_Mutation	SNP	ENST00000408999.3	hg19	CCDS46381.1	.	.	.	.	.	.	.	.	.	.	-	12.87	2.068566	0.36470	.	.	ENSG00000196862	ENST00000354986;ENST00000408999	T;T	0.53423	0.62;0.62	2.33	2.33	0.28932	Pleckstrin homology-type (1);Ran binding protein 1 (3);	.	.	.	.	T	0.70745	0.3259	M	0.91406	3.205	0.37032	D	0.896721	D	0.76494	0.999	D	0.80764	0.994	T	0.77611	-0.2523	9	0.87932	D	0	-35.6834	9.2036	0.37275	1.0:0.0:0.0:0.0	.	1375	Q7Z3J3	RGPD4_HUMAN	E	1375	ENSP00000347081:K1375E;ENSP00000386810:K1375E	ENSP00000347081:K1375E	K	+	1	0	RGPD4	107855015	1.000000	0.71417	1.000000	0.80357	0.405000	0.30901	9.032000	0.93736	1.072000	0.40860	0.136000	0.15936	AAA		0.353	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2	XM_496581		G	108488583	A	G	108488583	3	3	771	1	0	0	0	0	1	0	0	0	13294	247	9	3	4201	3	RGPD4	2	108488583	Missense_Mutation	SNP	A	TCGA-P4-A5E6-01A-11D-A28G-10	38323199	108488583	134710790	21	45460											
SP5	389058	hgsc.bcm.edu	37	2	171572792	171572792	+	Silent	SNP	G	G	A			TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr2:171572792G>A	ENST00000375281.3	+	2	237	c.75G>A	c.(73-75)ccG>ccA	p.P25P	SP5_ENST00000487037.1_3'UTR|AC007405.2_ENST00000409786.1_5'Flank	NM_001003845.2	NP_001003845.1	Q6BEB4	SP5_HUMAN	Sp5 transcription factor	25					bone morphogenesis (GO:0060349)|post-anal tail morphogenesis (GO:0036342)|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)			NS(1)|endometrium(2)|lung(1)|prostate(1)	5						GCGCCTCCCCGGACCTGGGCA	0.736																																																0													16	22	20					2																	171572792		2004	3993	5997	SO:0001819	synonymous_variant	389058				CCDS33322.1	2q31	2013-01-08			ENSG00000204335	ENSG00000204335		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	14529	protein-coding gene	gene with protein product		609391					Standard	NM_001003845		Approved		uc002uge.3	Q6BEB4	OTTHUMG00000154053	ENST00000375281.3:c.75G>A	chr2.hg19:g.171572792G>A				Silent	SNP	ENST00000375281.3	hg19	CCDS33322.1																																																																																				0.736	SP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333670.1	XM_371581		A	171572792	G	A	171572792	2	1	771	1	0	0	0	0	0	0	0	1	14973	1103	39	1		1	SP5	2	171572792	Silent	SNP	G	TCGA-P4-A5E6-01A-11D-A28G-10	63084209	171572792	71626581	22	45461											
FZD7	8324	hgsc.bcm.edu	37	2	202900342	202900342	+	Nonsense_Mutation	SNP	C	C	G	rs571062625		TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr2:202900342C>G	ENST00000286201.1	+	1	1033	c.972C>G	c.(970-972)taC>taG	p.Y324*	RP11-107N15.1_ENST00000608741.1_lincRNA	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled class receptor 7	324					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						ACGATGGCTACCGCACGGTGG	0.632											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													65	64	65					2																	202900342		2203	4300	6503	SO:0001587	stop_gained	8324			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.972C>G	chr2.hg19:g.202900342C>G	ENSP00000286201:p.Tyr324*	2133	O94816|Q53S59|Q96B74	Nonsense_Mutation	SNP	ENST00000286201.1	hg19	CCDS2351.1	.	.	.	.	.	.	.	.	.	.	C	36	5.730939	0.96856	.	.	ENSG00000155760	ENST00000286201	.	.	.	5.54	5.54	0.83059	.	0.140083	0.49916	D	0.000138	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.4882	0.95039	0.0:1.0:0.0:0.0	.	.	.	.	X	324	.	ENSP00000286201:Y324X	Y	+	3	2	FZD7	202608587	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.927000	0.63440	2.618000	0.88619	0.563000	0.77884	TAC		0.632	FZD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256314.1	NM_003507		G	202900342	C	G	202900342	4	3	771	1	0	0	0	0	0	1	0	0	6137	518	18	4	974	4	FZD7	2	202900342	Nonsense_Mutation	SNP	C	TCGA-P4-A5E6-01A-11D-A28G-10	31327550	202900342	40299031	23	45462											
FAM117B	150864	hgsc.bcm.edu	37	2	203500481	203500481	+	Silent	SNP	A	A	C			TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr2:203500481A>C	ENST00000392238.2	+	1	571	c.571A>C	c.(571-573)Agg>Cgg	p.R191R	FAM117B_ENST00000303116.6_5'UTR			Q6P1L5	F117B_HUMAN	family with sequence similarity 117, member B	191										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						GCCGGAGAAGAGGAGCCCCAG	0.731																																																0													2	2	2					2																	203500481		404	1189	1593	SO:0001819	synonymous_variant	150864			AB053315	CCDS33362.1, CCDS33362.2	2q33	2008-08-18	2008-08-18	2008-08-18	ENSG00000138439	ENSG00000138439			14440	protein-coding gene	gene with protein product			"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 13"	ALS2CR13		11586298	Standard	NM_173511		Approved	FLJ38771	uc010zhx.2	Q6P1L5	OTTHUMG00000154550	ENST00000392238.2:c.571A>C	chr2.hg19:g.203500481A>C			Q53QZ5|Q585T9|Q8N8W1|Q96Q34	Silent	SNP	ENST00000392238.2	hg19	CCDS33362.2																																																																																				0.731	FAM117B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335888.3	NM_173511		C	203500481	A	C	203500481	2	2	771	1	0	0	0	0	0	0	0	1	5412	295	11	5		5	FAM117B	2	203500481	Silent	SNP	A	TCGA-P4-A5E6-01A-11D-A28G-10	600139	203500481	39698892	24	45463											
RPE	6120	hgsc.bcm.edu	37	2	210881324	210881324	+	Missense_Mutation	SNP	G	G	A			TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr2:210881324G>A	ENST00000359429.6	+	4	533	c.436G>A	c.(436-438)Ggg>Agg	p.G146R	RPE_ENST00000354506.6_Missense_Mutation_p.G138R|RPE_ENST00000429921.1_Missense_Mutation_p.G96R|RPE_ENST00000452025.1_Missense_Mutation_p.G146R|RPE_ENST00000411934.2_Missense_Mutation_p.G78R|RPE_ENST00000454822.1_Missense_Mutation_p.G96R|RPE_ENST00000445268.1_Missense_Mutation_p.G78R|RPE_ENST00000429907.1_Missense_Mutation_p.G78R|RPE_ENST00000540255.1_Missense_Mutation_p.G146R|RPE_ENST00000438204.2_Missense_Mutation_p.G78R|RPE_ENST00000436630.2_Missense_Mutation_p.G96R|RPE_ENST00000435437.2_Missense_Mutation_p.G146R	NM_199229.1	NP_954699.1	Q96AT9	RPE_HUMAN	ribulose-5-phosphate-3-epimerase	146	Substrate binding.				carbohydrate metabolic process (GO:0005975)|pentose-phosphate shunt (GO:0006098)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|ribulose-phosphate 3-epimerase activity (GO:0004750)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	9				Epithelial(149;0.00241)|Lung(261;0.041)|all cancers(144;0.0429)|LUSC - Lung squamous cell carcinoma(261;0.0431)		AGTGGAACCGGGGTTTGGAGG	0.438																																																0													132	129	130					2																	210881324		2203	4300	6503	SO:0001583	missense	6120				CCDS2388.1, CCDS42810.1, CCDS63107.1, CCDS63108.1	2q32-q33.3	2012-10-02			ENSG00000197713	ENSG00000197713	5.1.3.1		10293	protein-coding gene	gene with protein product		180480					Standard	NM_199229		Approved		uc002vdn.4	Q96AT9	OTTHUMG00000154690	ENST00000359429.6:c.436G>A	chr2.hg19:g.210881324G>A	ENSP00000352401:p.Gly146Arg		A8K4S0|B4E016|C9JPQ7|O43767|Q53TV9|Q8N215|Q96N34|Q9BSB5	Missense_Mutation	SNP	ENST00000359429.6	hg19	CCDS2388.1	.	.	.	.	.	.	.	.	.	.	G	34	5.304604	0.95601	.	.	ENSG00000197713	ENST00000359429;ENST00000436630;ENST00000408981;ENST00000454822;ENST00000429921;ENST00000540255;ENST00000438265;ENST00000429907;ENST00000441588;ENST00000445268;ENST00000452025;ENST00000438204;ENST00000411934;ENST00000435437;ENST00000354506	.	.	.	5.45	5.45	0.79879	Aldolase-type TIM barrel (1);Ribulose-phosphate binding barrel (1);	0.000000	0.85682	D	0.000000	D	0.85852	0.5793	M	0.90369	3.11	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.88209	0.2889	9	0.87932	D	0	-3.1604	19.2659	0.93985	0.0:0.0:1.0:0.0	.	146;138;146;146	B4E016;E7EW52;Q96AT9;C9J9T0	.;.;RPE_HUMAN;.	R	146;96;78;96;96;146;96;78;78;78;146;78;78;146;138	.	ENSP00000346501:G138R	G	+	1	0	RPE	210589569	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.777000	0.99008	2.725000	0.93324	0.655000	0.94253	GGG		0.438	RPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336574.2	NM_006916		A	210881324	G	A	210881324	3	1	771	1	0	0	0	0	1	0	0	0	13550	1232	43	2	508	2	RPE	2	210881324	Missense_Mutation	SNP	G	TCGA-P4-A5E6-01A-11D-A28G-10	7380843	210881324	32318049	25	45464											
CUL3	8452	hgsc.bcm.edu	37	2	225449678	225449678	+	Frame_Shift_Del	DEL	G	G	-			TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr2:225449678delG	ENST00000264414.4	-	1	387	c.49delC	c.(49-51)cggfs	p.R17fs	CUL3_ENST00000344951.4_Frame_Shift_Del_p.R17fs	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	17					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		GCCCGGATCCGCATCTTGGTG	0.736																																																0													37	35	35					2																	225449678		2200	4300	6500	SO:0001589	frameshift_variant	8452			U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.49delC	chr2.hg19:g.225449678delG	ENSP00000264414:p.Arg17fs		A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Frame_Shift_Del	DEL	ENST00000264414.4	hg19	CCDS2462.1																																																																																				0.736	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256871.2			-	225449678	G	-	225449678	7	5	771	1	0	1	0	1	0	0	0	0	4058	1086	38	0	2321	0	CUL3	2	225449678	Frame_Shift_Del	DEL	G	TCGA-P4-A5E6-01A-11D-A28G-10	14568354	225449678	17749695	26	45465											
BHLHE40	8553	hgsc.bcm.edu	37	3	5024970	5024970	+	Missense_Mutation	SNP	A	A	C			TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr3:5024970A>C	ENST00000256495.3	+	5	1435	c.832A>C	c.(832-834)Att>Ctt	p.I278L		NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	278					circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|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)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|MRF binding (GO:0043426)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|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)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						GATCGGCGCAATTAAGCAAGA	0.537																																																0													76	77	77					3																	5024970		2203	4300	6503	SO:0001583	missense	8553			AB004066	CCDS2565.1	3p26	2009-01-12	2009-01-12	2009-01-12	ENSG00000134107	ENSG00000134107		"Basic helix-loop-helix proteins"	1046	protein-coding gene	gene with protein product	"differentially expressed in chondrocytes 1", " differentiated embryo chondrocyte expressed gene 1"	604256	"basic helix-loop-helix domain containing, class B, 2"	STRA13, BHLHB2		9240428, 10449910, 18557763	Standard	NM_003670		Approved	DEC1, bHLHe40	uc003bqf.3	O14503	OTTHUMG00000119035	ENST00000256495.3:c.832A>C	chr3.hg19:g.5024970A>C	ENSP00000256495:p.Ile278Leu		Q96TD3	Missense_Mutation	SNP	ENST00000256495.3	hg19	CCDS2565.1	.	.	.	.	.	.	.	.	.	.	A	17.95	3.513068	0.64522	.	.	ENSG00000134107	ENST00000256495	T	0.79845	-1.31	5.62	4.47	0.54385	.	0.309371	0.35970	N	0.002872	D	0.85944	0.5815	M	0.75615	2.305	0.80722	D	1	D	0.56035	0.974	P	0.57911	0.829	D	0.85230	0.1032	10	0.46703	T	0.11	.	11.0922	0.48123	0.9283:0.0:0.0717:0.0	.	278	O14503	BHE40_HUMAN	L	278	ENSP00000256495:I278L	ENSP00000256495:I278L	I	+	1	0	BHLHE40	4999970	1.000000	0.71417	0.912000	0.35992	0.165000	0.22458	7.345000	0.79337	0.983000	0.38602	0.533000	0.62120	ATT		0.537	BHLHE40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239244.2	NM_003670		C	5024970	A	C	5024970	3	2	771	1	0	0	0	0	1	0	0	0	1423	101	4	5	850	5	BHLHE40	3	5024970	Missense_Mutation	SNP	A	TCGA-P4-A5E6-01A-11D-A28G-10		5024970	192997460	27	45466											
XPC	7508	hgsc.bcm.edu	37	3	14188804	14188804	+	Missense_Mutation	SNP	G	G	C	rs373301509		TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr3:14188804G>C	ENST00000285021.7	-	15	2804	c.2590C>G	c.(2590-2592)Cgc>Ggc	p.R864G	RP11-434D12.1_ENST00000601399.1_Intron|RP11-434D12.1_ENST00000608606.1_Intron|XPC_ENST00000449060.2_Missense_Mutation_p.R827G|AC093495.4_ENST00000428681.3_RNA|AC093495.4_ENST00000420253.1_RNA	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	864	Interaction with CETN2.|Interaction with ERCC2 and GTF2H1.				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						GGCCCGTAGCGACGCTTCAGC	0.547			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	"xeroderma pigmentosum, complementation group C"		E	0													53	57	56					3																	14188804		1998	4157	6155	SO:0001583	missense	7508	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV		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.2590C>G	chr3.hg19:g.14188804G>C	ENSP00000285021:p.Arg864Gly		B4DIP3|E9PB96|E9PH69|Q53GT7|Q96AX0	Missense_Mutation	SNP	ENST00000285021.7	hg19	CCDS46763.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.770436	0.69992	.	.	ENSG00000154767	ENST00000285021;ENST00000449060	T;T	0.36157	1.27;1.29	5.18	4.3	0.51218	.	0.000000	0.85682	D	0.000000	T	0.59959	0.2232	M	0.78801	2.425	0.80722	D	1	D;D	0.76494	0.996;0.999	P;D	0.70716	0.903;0.97	T	0.64437	-0.6408	10	0.49607	T	0.09	-14.9319	15.159	0.72767	0.0:0.0:0.8577:0.1423	.	827;864	E9PH69;Q01831	.;XPC_HUMAN	G	864;827	ENSP00000285021:R864G;ENSP00000404002:R827G	ENSP00000285021:R864G	R	-	1	0	XPC	14163805	1.000000	0.71417	0.891000	0.34965	0.837000	0.47467	6.671000	0.74472	1.385000	0.46445	0.591000	0.81541	CGC		0.547	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340517.3	NM_004628		C	14188804	G	C	14188804	3	2	771	1	0	0	0	0	1	0	0	0	17446	1058	37	4	240	4	XPC	3	14188804	Missense_Mutation	SNP	G	TCGA-P4-A5E6-01A-11D-A28G-10	9163834	14188804	183833626	28	45467											
DAG1	1605	hgsc.bcm.edu	37	3	49568609	49568609	+	Missense_Mutation	SNP	T	T	C			TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr3:49568609T>C	ENST00000539901.1	+	3	1223	c.665T>C	c.(664-666)cTt>cCt	p.L222P	DAG1_ENST00000545947.1_Missense_Mutation_p.L222P|DAG1_ENST00000308775.2_Missense_Mutation_p.L222P|DAG1_ENST00000515359.2_Missense_Mutation_p.L222P|DAG1_ENST00000538711.1_Missense_Mutation_p.L222P|DAG1_ENST00000541308.1_Missense_Mutation_p.L222P	NM_001177644.2	NP_001171115	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	222	Required for laminin recognition.				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)		GAAGTAGAGCTTCACAACATG	0.493																																																0													76	81	80					3																	49568609		2203	4300	6503	SO:0001583	missense	1605			L19711	CCDS2799.1	3p21	2014-09-17			ENSG00000173402	ENSG00000173402			2666	protein-coding gene	gene with protein product	"alpha-dystroglycan", "dystrophin-associated glycoprotein-1", "beta-dystroglycan"	128239				7774920, 1741056	Standard	NM_001177643		Approved	A3a, 156DAG, AGRNR, DAG	uc021wyd.1	Q14118	OTTHUMG00000156869	ENST00000539901.1:c.665T>C	chr3.hg19:g.49568609T>C	ENSP00000439334:p.Leu222Pro		A8K6M7|Q969J9	Missense_Mutation	SNP	ENST00000539901.1	hg19	CCDS2799.1	.	.	.	.	.	.	.	.	.	.	T	11.97	1.798715	0.31777	.	.	ENSG00000173402	ENST00000515359;ENST00000308775;ENST00000545947;ENST00000541308;ENST00000539901;ENST00000538711;ENST00000415315	T;T;T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46;-1.46;-1.46	5.92	3.55	0.40652	.	0.170769	0.52532	N	0.000062	T	0.76652	0.4017	M	0.65975	2.015	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.70368	-0.4891	10	0.51188	T	0.08	-12.03	9.6231	0.39734	0.0:0.1436:0.0:0.8564	.	222	Q14118	DAG1_HUMAN	P	222;222;222;222;222;222;21	ENSP00000440705:L222P;ENSP00000312435:L222P;ENSP00000442600:L222P;ENSP00000440590:L222P;ENSP00000439334:L222P;ENSP00000438421:L222P	ENSP00000312435:L222P	L	+	2	0	DAG1	49543613	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	4.211000	0.58507	0.496000	0.27904	0.533000	0.62120	CTT		0.493	DAG1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346326.1			C	49568609	T	C	49568609	3	2	771	1	0	0	0	0	1	0	0	0	4227	1609	56	3	671	3	DAG1	3	49568609	Missense_Mutation	SNP	T	TCGA-P4-A5E6-01A-11D-A28G-10	35379805	49568609	148453821	29	45468											
MAPKAPK3	7867	hgsc.bcm.edu	37	3	50685441	50685441	+	Silent	SNP	C	C	G			TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr3:50685441C>G	ENST00000446044.1	+	13	1709	c.1113C>G	c.(1111-1113)ggC>ggG	p.G371G	MAPKAPK3_ENST00000357955.2_Silent_p.G371G	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated protein kinase 3	371					activation of MAPK activity (GO:0000187)|innate immune response (GO:0045087)|macropinocytosis (GO:0044351)|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)|Ras protein signal transduction (GO:0007265)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)|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)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		AGCAGGCAGGCAGCTCCTCTG	0.562																																																0													69	69	69					3																	50685441		2203	4300	6503	SO:0001819	synonymous_variant	7867			U43784	CCDS2832.1	3p21.3	2004-03-10			ENSG00000114738	ENSG00000114738			6888	protein-coding gene	gene with protein product		602130				8626550, 8622688	Standard	NM_004635		Approved	3pK, MAPKAP3, 3PK	uc003dba.2	Q16644	OTTHUMG00000156850	ENST00000446044.1:c.1113C>G	chr3.hg19:g.50685441C>G			B5BU67	Silent	SNP	ENST00000446044.1	hg19	CCDS2832.1	.	.	.	.	.	.	.	.	.	.	C	9.156	1.017372	0.19355	.	.	ENSG00000114738	ENST00000451680	.	.	.	5.73	2.59	0.31030	.	.	.	.	.	T	0.53626	0.1808	.	.	.	0.45733	D	0.998639	.	.	.	.	.	.	T	0.49194	-0.8965	4	.	.	.	-29.6661	6.4693	0.21999	0.2822:0.5832:0.0:0.1346	.	.	.	.	E	86	.	.	Q	+	1	0	MAPKAPK3	50660445	0.089000	0.21612	0.973000	0.42090	0.978000	0.69477	0.290000	0.18975	1.409000	0.46915	0.655000	0.94253	CAG		0.562	MAPKAPK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346237.1	NM_004635		G	50685441	C	G	50685441	2	3	771	1	0	0	0	0	0	0	0	1	9292	697	25	4		4	MAPKAPK3	3	50685441	Silent	SNP	C	TCGA-P4-A5E6-01A-11D-A28G-10	1116832	50685441	147336989	30	45469											
MAGI1	9223	hgsc.bcm.edu	37	3	65425597	65425597	+	Silent	SNP	C	C	T	rs571281009	byFrequency	TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr3:65425597C>T	ENST00000497477.2	-	9	1226	c.1227G>A	c.(1225-1227)caG>caA	p.Q409Q	MAGI1_ENST00000402939.2_Silent_p.Q409Q|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000330909.8_Silent_p.Q409Q|MAGI1_ENST00000483466.1_Silent_p.Q409Q			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	409	Poly-Gln.				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)		gctgttgctgctgctgttgct	0.532											OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	49	0.00978435	0.0325	0.0043	5008	,	,		14951	0.003		0.0	False		,,,				2504	0.0															0													68	64	65					3																	65425597		2202	4296	6498	SO:0001819	synonymous_variant	9223			AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"BAI1-associated protein 1"	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.1227G>A	chr3.hg19:g.65425597C>T		1084	A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Silent	SNP	ENST00000497477.2	hg19		.	.	.	.	.	.	.	.	.	.	C	1.115	-0.657141	0.03480	.	.	ENSG00000151276	ENST00000460329	.	.	.	3.23	1.37	0.22104	.	.	.	.	.	T	0.23014	0.0556	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.22277	-1.0221	4	.	.	.	0.0018	2.6711	0.05067	0.2253:0.507:0.0:0.2677	.	.	.	.	N	290	.	.	S	-	2	0	MAGI1	65400637	0.651000	0.27340	0.048000	0.18961	0.002000	0.02628	-0.987000	0.03743	0.095000	0.17434	-0.850000	0.03035	AGC		0.532	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742		T	65425597	C	T	65425597	2	4	771	1	0	0	0	0	0	0	0	1	9192	796	28	2		2	MAGI1	3	65425597	Silent	SNP	C	TCGA-P4-A5E6-01A-11D-A28G-10	14740156	65425597	132596833	31	45470											
MYH15	22989	hgsc.bcm.edu	37	3	108174686	108174687	+	Frame_Shift_Ins	INS	-	-	T			TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr3:108174686_108174687insT	ENST00000273353.3	-	21	2274_2275	c.2218_2219insA	c.(2218-2220)aggfs	p.R740fs	MYH15_ENST00000495753.2_5'UTR	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	740	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						TGGAAAGGTCCTTGGATTCAGA	0.361																																																0																																										SO:0001589	frameshift_variant	22989			AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"Myosins / Myosin superfamily : Class II"	31073	protein-coding gene	gene with protein product		609929	"myosin, heavy polypeptide 15"			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.2219dupA	chr3.hg19:g.108174688_108174688dupT	ENSP00000273353:p.Arg740fs			Frame_Shift_Ins	INS	ENST00000273353.3	hg19	CCDS43127.1																																																																																				0.361	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		T	108174687	-	T	108174686	7	5	771	1	0	1	1	0	0	0	0	0	10036	681	24	0	3709	0	MYH15	3	108174686	Frame_Shift_Ins	INS	-	TCGA-P4-A5E6-01A-11D-A28G-10	42749089	108174686	89847744	32	45471											
ABHD10	55347	hgsc.bcm.edu	37	3	111710242	111710242	+	Missense_Mutation	SNP	A	A	C			TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr3:111710242A>C	ENST00000273359.3	+	5	622	c.595A>C	c.(595-597)Atg>Ctg	p.M199L	ABHD10_ENST00000494817.1_3'UTR|ABHD10_ENST00000534857.1_Missense_Mutation_p.M42L	NM_018394.2	NP_060864.1	Q9NUJ1	ABHDA_HUMAN	abhydrolase domain containing 10	199					glucuronoside catabolic process (GO:0019391)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			large_intestine(2)|lung(7)|skin(1)	10						GGAAGTAGAGATGAAAGGTGT	0.323																																																0													79	75	76					3																	111710242		2203	4300	6503	SO:0001583	missense	55347			AL713726	CCDS2963.1, CCDS63718.1	3q13.2	2012-03-26			ENSG00000144827	ENSG00000144827		"Abhydrolase domain containing"	25656	protein-coding gene	gene with protein product						22294686	Standard	NM_018394		Approved	FLJ11342	uc003dyk.5	Q9NUJ1	OTTHUMG00000159280	ENST00000273359.3:c.595A>C	chr3.hg19:g.111710242A>C	ENSP00000273359:p.Met199Leu		B7Z6A8|C9IZX5|D3DN63|Q8TCF9	Missense_Mutation	SNP	ENST00000273359.3	hg19	CCDS2963.1	.	.	.	.	.	.	.	.	.	.	A	12.86	2.064132	0.36373	.	.	ENSG00000144827	ENST00000534857;ENST00000273359	T;T	0.66099	1.02;-0.19	5.47	-3.29	0.05017	.	0.598228	0.18438	N	0.141217	T	0.33585	0.0868	N	0.19112	0.55	0.23445	N	0.997665	B	0.02656	0.0	B	0.06405	0.002	T	0.06661	-1.0814	10	0.30078	T	0.28	-12.4265	1.0289	0.01533	0.3041:0.125:0.3257:0.2452	.	199	Q9NUJ1	ABHDA_HUMAN	L	42;199	ENSP00000442932:M42L;ENSP00000273359:M199L	ENSP00000273359:M199L	M	+	1	0	ABHD10	113192932	1.000000	0.71417	0.986000	0.45419	0.987000	0.75469	1.234000	0.32660	-0.436000	0.07254	0.443000	0.29094	ATG		0.323	ABHD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354326.1	NM_018394		C	111710242	A	C	111710242	3	2	771	1	0	0	0	0	1	0	0	0	74	333	12	5	613	5	ABHD10	3	111710242	Missense_Mutation	SNP	A	TCGA-P4-A5E6-01A-11D-A28G-10	3535556	111710242	86312188	33	45472											
ARRDC3	57561	hgsc.bcm.edu	37	5	90669948	90669948	+	Missense_Mutation	SNP	A	A	C			TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr5:90669948A>C	ENST00000265138.3	-	6	1282	c.1016T>G	c.(1015-1017)cTt>cGt	p.L339R	ARRDC3_ENST00000503192.1_5'Flank	NM_020801.2	NP_065852.1	Q96B67	ARRD3_HUMAN	arrestin domain containing 3	339					fat pad development (GO:0060613)|negative regulation of heat generation (GO:0031651)|negative regulation of locomotion involved in locomotory behavior (GO:0090327)|negative regulation of multicellular organismal metabolic process (GO:0044252)|positive regulation of adrenergic receptor signaling pathway (GO:0071879)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|skin development (GO:0043588)|temperature homeostasis (GO:0001659)	endosome (GO:0005768)|plasma membrane (GO:0005886)	beta-3 adrenergic receptor binding (GO:0031699)			breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	18		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)		TCTTTCAGGAAGTGATAAACT	0.373																																																0													187	185	186					5																	90669948		2203	4300	6503	SO:0001583	missense	57561			AB037797	CCDS34202.1	5q14.3	2013-10-11			ENSG00000113369	ENSG00000113369			29263	protein-coding gene	gene with protein product	"alpha-arrestin 3"	612464				10718198, 19605364	Standard	NM_020801		Approved	KIAA1376	uc003kjz.2	Q96B67	OTTHUMG00000162616	ENST00000265138.3:c.1016T>G	chr5.hg19:g.90669948A>C	ENSP00000265138:p.Leu339Arg		A8K6T8|Q9P2H1	Missense_Mutation	SNP	ENST00000265138.3	hg19	CCDS34202.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.263139	0.80358	.	.	ENSG00000113369	ENST00000265138	T	0.08984	3.03	5.77	5.77	0.91146	Immunoglobulin E-set (1);	0.000000	0.85682	D	0.000000	T	0.26085	0.0636	M	0.62723	1.935	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	T	0.00473	-1.1718	10	0.34782	T	0.22	-10.2226	16.086	0.81049	1.0:0.0:0.0:0.0	.	339	Q96B67	ARRD3_HUMAN	R	339	ENSP00000265138:L339R	ENSP00000265138:L339R	L	-	2	0	ARRDC3	90705704	1.000000	0.71417	0.981000	0.43875	0.932000	0.56968	9.339000	0.96797	2.207000	0.71202	0.528000	0.53228	CTT		0.373	ARRDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369763.2	NM_020801		C	90669948	A	C	90669948	3	2	771	1	0	0	0	0	1	0	0	0	984	72	3	5	240	5	ARRDC3	5	90669948	Missense_Mutation	SNP	A	TCGA-P4-A5E6-01A-11D-A28G-10		90669948	90245312	34	45473											
PAM	5066	hgsc.bcm.edu	37	5	102285295	102285295	+	Missense_Mutation	SNP	C	C	T			TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr5:102285295C>T	ENST00000438793.3	+	9	1168	c.698C>T	c.(697-699)gCc>gTc	p.A233V	PAM_ENST00000346918.2_Missense_Mutation_p.A233V|PAM_ENST00000379787.4_5'UTR|PAM_ENST00000455264.2_Missense_Mutation_p.A233V|PAM_ENST00000304400.7_Missense_Mutation_p.A233V|PAM_ENST00000274392.9_Missense_Mutation_p.A136V|PAM_ENST00000348126.2_Missense_Mutation_p.A233V	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	233	Peptidylglycine alpha-hydroxylating monooxygenase. {ECO:0000250}.				central nervous system development (GO:0007417)|heart development (GO:0007507)|lactation (GO:0007595)|limb development (GO:0060173)|long-chain fatty acid metabolic process (GO:0001676)|maternal process involved in female pregnancy (GO:0060135)|odontogenesis (GO:0042476)|ovulation cycle process (GO:0022602)|peptide amidation (GO:0001519)|protein amidation (GO:0018032)|protein homooligomerization (GO:0051260)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of protein secretion (GO:0050708)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to pH (GO:0009268)|toxin metabolic process (GO:0009404)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network (GO:0005802)	calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|L-ascorbic acid binding (GO:0031418)|peptidylamidoglycolate lyase activity (GO:0004598)|peptidylglycine monooxygenase activity (GO:0004504)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	CATGTCTTTGCCTATAGAGTT	0.323																																																0													106	108	107					5																	102285295		2203	4297	6500	SO:0001583	missense	5066			AB095007	CCDS4092.1, CCDS4093.1, CCDS4094.1, CCDS43348.1, CCDS54885.1	5q	2008-02-05			ENSG00000145730	ENSG00000145730	1.14.17.3		8596	protein-coding gene	gene with protein product	"peptidyl-alpha-hydroxyglycine alpha-amidating lyase", "peptidylglycine alpha-hydroxylating monooxygenase"	170270				2357221	Standard	NM_000919		Approved	PAL, PHM	uc003knt.3	P19021	OTTHUMG00000128729	ENST00000438793.3:c.698C>T	chr5.hg19:g.102285295C>T	ENSP00000396493:p.Ala233Val		A6NMR0|A8K293|O43211|O95080|Q16252|Q16253|Q54A45|Q86U53|Q8WVC7|Q9UCG0	Missense_Mutation	SNP	ENST00000438793.3	hg19	CCDS54885.1	.	.	.	.	.	.	.	.	.	.	C	32	5.156388	0.94686	.	.	ENSG00000145730	ENST00000438793;ENST00000346918;ENST00000348126;ENST00000304400;ENST00000274392;ENST00000455264	T;T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-1.14;-1.14	6.02	6.02	0.97574	Copper type II, ascorbate-dependent monooxygenase, histidine-cluster-2 conserved site (1);PHM/PNGase F domain (1);Copper type II, ascorbate-dependent monooxygenase-like, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.91036	0.7180	M	0.90650	3.135	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	0.91659	0.5341	10	0.87932	D	0	.	20.5373	0.99239	0.0:1.0:0.0:0.0	.	136;233;233;233;233;233	F8WE90;P19021;P19021-4;P19021-3;P19021-5;P19021-2	.;AMD_HUMAN;.;.;.;.	V	233;233;233;233;136;233	ENSP00000396493:A233V;ENSP00000282992:A233V;ENSP00000314638:A233V;ENSP00000306100:A233V;ENSP00000274392:A136V;ENSP00000403461:A233V	ENSP00000274392:A136V	A	+	2	0	PAM	102313194	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.290000	0.72712	2.857000	0.98124	0.650000	0.86243	GCC		0.323	PAM-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250640.2	NM_000919		T	102285295	C	T	102285295	3	4	771	1	0	0	0	0	1	0	0	0	11414	739	26	2	732	2	PAM	5	102285295	Missense_Mutation	SNP	C	TCGA-P4-A5E6-01A-11D-A28G-10	11615347	102285295	78629965	35	45474											
PCDHGB6	56100	hgsc.bcm.edu	37	5	140788348	140788348	+	Missense_Mutation	SNP	G	G	T			TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr5:140788348G>T	ENST00000520790.1	+	1	579	c.579G>T	c.(577-579)gaG>gaT	p.E193D	PCDHGB4_ENST00000519479.1_Intron|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|PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	193	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)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATACCCAGAGTTATCTCTGG	0.403																																																0													26	26	26					5																	140788348		1835	4088	5923	SO:0001583	missense	56100			AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"Cadherins / Protocadherins : Clustered"	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.579G>T	chr5.hg19:g.140788348G>T	ENSP00000428603:p.Glu193Asp		Q9Y5C5	Missense_Mutation	SNP	ENST00000520790.1	hg19	CCDS54929.1	.	.	.	.	.	.	.	.	.	.	g	13.81	2.348524	0.41599	.	.	ENSG00000253305	ENST00000520790	T	0.21734	1.99	5.34	1.01	0.19927	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.40909	0.1136	M	0.77616	2.38	0.09310	N	0.999999	D;D	0.71674	0.994;0.998	D;D	0.70016	0.948;0.967	T	0.12760	-1.0535	9	0.66056	D	0.02	.	6.0351	0.19702	0.382:0.0:0.4936:0.1244	.	193;193	Q9Y5F9;Q9Y5F9-2	PCDGI_HUMAN;.	D	193	ENSP00000428603:E193D	ENSP00000428603:E193D	E	+	3	2	PCDHGB6	140768532	0.000000	0.05858	0.987000	0.45799	0.966000	0.64601	-1.583000	0.02115	0.257000	0.21650	-0.373000	0.07131	GAG		0.403	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374746.1	NM_018926		T	140788348	G	T	140788348	3	4	771	1	0	0	0	0	1	0	0	0	11569	1020	36	4	581	4	PCDHGB6	5	140788348	Missense_Mutation	SNP	G	TCGA-P4-A5E6-01A-11D-A28G-10	38503053	140788348	40126912	36	45475											
SPINK1	6690	hgsc.bcm.edu	37	5	147207646	147207646	+	Missense_Mutation	SNP	G	G	A			TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr5:147207646G>A	ENST00000296695.5	-	3	341	c.133C>T	c.(133-135)Cct>Tct	p.P45S	SPINK1_ENST00000510027.2_Missense_Mutation_p.P45S	NM_003122.3	NP_003113.2	P00995	ISK1_HUMAN	serine peptidase inhibitor, Kazal type 1	45	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				negative regulation of calcium ion import (GO:0090281)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of serine-type endopeptidase activity (GO:1900004)|regulation of acrosome reaction (GO:0060046)|regulation of store-operated calcium entry (GO:2001256)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACAGACAGGGTCATATATC	0.328									Hereditary Pancreatitis																																							0													126	119	121					5																	147207646		2203	4300	6503	SO:0001583	missense	6690	Familial Cancer Database			CCDS4286.1	5q32	2011-08-31	2005-08-17		ENSG00000164266	ENSG00000164266		"Serine peptidase inhibitors, Kazal type"	11244	protein-coding gene	gene with protein product		167790	"serine protease inhibitor, Kazal type 1"				Standard	XM_005268501		Approved	Spink3, PCTT, PSTI, TATI	uc003los.2	P00995	OTTHUMG00000129730	ENST00000296695.5:c.133C>T	chr5.hg19:g.147207646G>A	ENSP00000296695:p.Pro45Ser			Missense_Mutation	SNP	ENST00000296695.5	hg19	CCDS4286.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.042553	0.55003	.	.	ENSG00000164266	ENST00000296695;ENST00000510027	D;D	0.85339	-1.97;-1.97	4.9	4.9	0.64082	Proteinase inhibitor I1, Kazal (3);	0.000000	0.64402	D	0.000001	D	0.91991	0.7463	.	.	.	0.43708	D	0.996175	D	0.89917	1.0	D	0.97110	1.0	D	0.92165	0.5739	9	0.56958	D	0.05	-21.6312	15.9791	0.80094	0.0:0.0:1.0:0.0	.	45	P00995	ISK1_HUMAN	S	45	ENSP00000296695:P45S;ENSP00000427376:P45S	ENSP00000296695:P45S	P	-	1	0	SPINK1	147187839	1.000000	0.71417	0.938000	0.37757	0.224000	0.24922	4.936000	0.63506	2.725000	0.93324	0.655000	0.94253	CCT		0.328	SPINK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251940.2	NM_003122		A	147207646	G	A	147207646	3	1	771	1	0	0	0	0	1	0	0	0	15062	1232	43	2	114	2	SPINK1	5	147207646	Missense_Mutation	SNP	G	TCGA-P4-A5E6-01A-11D-A28G-10	6419298	147207646	33707614	37	45476											
C5orf40	408263	hgsc.bcm.edu	37	5	156770121	156770121	+	Nonsense_Mutation	SNP	C	C	A			TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr5:156770121C>A	ENST00000312349.4	-	2	611	c.424G>T	c.(424-426)Gag>Tag	p.E142*	CYFIP2_ENST00000521420.1_Intron|CYFIP2_ENST00000442283.2_Intron|CYFIP2_ENST00000377576.3_Intron|CYFIP2_ENST00000347377.6_Intron|CYFIP2_ENST00000435847.2_Intron|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000318218.6_Intron|CYFIP2_ENST00000541131.1_Intron	NM_001001343.3	NP_001001343.2	Q8TBE3	FNDC9_HUMAN	fibronectin type III domain containing 9	142						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						CATCGCGGCTCATGGCAACGG	0.607											OREG0016977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													64	62	63					5																	156770121		2203	4300	6503	SO:0001587	stop_gained	408263			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.424G>T	chr5.hg19:g.156770121C>A	ENSP00000310594:p.Glu142*	1781	A8K0Y6	Nonsense_Mutation	SNP	ENST00000312349.4	hg19	CCDS4337.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.805183	0.70682	.	.	ENSG00000172568	ENST00000312349;ENST00000520782	.	.	.	5.08	4.15	0.48705	.	0.241065	0.28784	N	0.014157	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-4.2189	9.3255	0.37990	0.16:0.6848:0.1551:0.0	.	.	.	.	X	142	.	ENSP00000310594:E142X	E	-	1	0	FNDC9	156702699	0.304000	0.24472	0.997000	0.53966	0.674000	0.39518	0.688000	0.25422	2.369000	0.80426	0.491000	0.48974	GAG		0.607	FNDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252573.2	NM_001001343		A	156770121	C	A	156770121	4	1	771	1	0	0	0	0	0	1	0	0	2301	835	29	4	254	4	C5orf40	5	156770121	Nonsense_Mutation	SNP	C	TCGA-P4-A5E6-01A-11D-A28G-10	9562475	156770121	24145139	38	45477											
FAM65B	9750	hgsc.bcm.edu	37	6	24843494	24843494	+	Missense_Mutation	SNP	C	C	G			TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr6:24843494C>G	ENST00000259698.4	-	14	1691	c.1516G>C	c.(1516-1518)Gag>Cag	p.E506Q	FAM65B_ENST00000378023.4_Missense_Mutation_p.E456Q|FAM65B_ENST00000510784.2_Missense_Mutation_p.E490Q|FAM65B_ENST00000540914.1_Missense_Mutation_p.E456Q|FAM65B_ENST00000538035.1_Missense_Mutation_p.E485Q|FAM65B_ENST00000473070.1_5'Flank	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	506					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						CTGGGCTCCTCTGGGTCTTCC	0.577																																																0													86	82	83					6																	24843494		1916	4115	6031	SO:0001583	missense	9750			U49187	CCDS47383.1, CCDS47384.1, CCDS69057.1, CCDS69058.1, CCDS75410.1	6p22.3-p21.32	2012-11-30	2008-06-13	2008-06-13	ENSG00000111913	ENSG00000111913			13872	protein-coding gene	gene with protein product	"myogenesis-related and NCAM-associated protein homolog (chicken)"	611410	"chromosome 6 open reading frame 32"	C6orf32		9205841, 17150207, 17825087	Standard	NM_001286447		Approved	KIAA0386, DIFF48, MYONAP	uc003neo.1	Q9Y4F9	OTTHUMG00000014375	ENST00000259698.4:c.1516G>C	chr6.hg19:g.24843494C>G	ENSP00000259698:p.Glu506Gln		A6NHP2|Q13529|Q5VV37|Q5VV38|Q9BQ28	Missense_Mutation	SNP	ENST00000259698.4	hg19	CCDS47383.1	.	.	.	.	.	.	.	.	.	.	C	9.393	1.076084	0.20227	.	.	ENSG00000111913	ENST00000259698;ENST00000538035;ENST00000378023;ENST00000540914;ENST00000510784	T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45	4.3	2.46	0.29980	.	1.536000	0.03262	N	0.183420	T	0.06917	0.0176	N	0.24115	0.695	0.09310	N	1	B;B;B;B	0.16396	0.017;0.004;0.009;0.004	B;B;B;B	0.11329	0.006;0.003;0.004;0.004	T	0.23404	-1.0189	10	0.13853	T	0.58	-0.5328	7.1945	0.25845	0.0:0.6914:0.1422:0.1664	.	490;485;456;506	B7Z6U4;F5GX51;Q9Y4F9-2;Q9Y4F9	.;.;.;FA65B_HUMAN	Q	506;485;456;456;490	ENSP00000259698:E506Q;ENSP00000441138:E485Q;ENSP00000367262:E456Q;ENSP00000438425:E456Q;ENSP00000441305:E490Q	ENSP00000259698:E506Q	E	-	1	0	FAM65B	24951473	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	0.333000	0.19768	0.417000	0.25871	0.655000	0.94253	GAG		0.577	FAM65B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040024.2			G	24843494	C	G	24843494	3	3	771	1	0	0	0	0	1	0	0	0	5602	922	32	4	1740	4	FAM65B	6	24843494	Missense_Mutation	SNP	C	TCGA-P4-A5E6-01A-11D-A28G-10		24843494	146271573	39	45478											
HLA-E	3133	hgsc.bcm.edu	37	6	30459405	30459405	+	Silent	SNP	T	T	C			TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr6:30459405T>C	ENST00000376630.4	+	5	1043	c.978T>C	c.(976-978)gcT>gcC	p.A326A		NM_005516.5	NP_005507.3	P13747	HLAE_HUMAN	major histocompatibility complex, class I, E	326					antigen processing and presentation of endogenous peptide antigen via MHC class Ib (GO:0002476)|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)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of natural killer cell mediated immunity (GO:0002717)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protection from natural killer cell mediated cytotoxicity (GO:0042270)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|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)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	MHC class I protein binding (GO:0042288)|peptide antigen binding (GO:0042605)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)|ovary(3)|skin(1)|urinary_tract(1)	18						TGGTTGCTGCTGTGATATGGA	0.557																																																0													153	162	159					6																	30459405		1509	2709	4218	SO:0001819	synonymous_variant	3133			M20022	CCDS34379.1	6p21.3	2013-01-11			ENSG00000204592	ENSG00000204592		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4962	protein-coding gene	gene with protein product		143010				3131426	Standard	NM_005516		Approved		uc003nqg.3	P13747	OTTHUMG00000031155	ENST00000376630.4:c.978T>C	chr6.hg19:g.30459405T>C			Q30169|Q9BT83|Q9GIY7|Q9GIY8	Silent	SNP	ENST00000376630.4	hg19	CCDS34379.1																																																																																				0.557	HLA-E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076282.2	NM_005516		C	30459405	T	C	30459405	2	2	771	1	0	0	0	0	0	0	0	1	7212	1567	55	3		3	HLA-E	6	30459405	Silent	SNP	T	TCGA-P4-A5E6-01A-11D-A28G-10	5615911	30459405	140655662	40	45479											
PRICKLE4	29964	hgsc.bcm.edu	37	6	41751890	41751890	+	Missense_Mutation	SNP	G	G	A			TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr6:41751890G>A	ENST00000394260.1	+	1	34	c.34G>A	c.(34-36)Ggt>Agt	p.G12S	PRICKLE4_ENST00000458694.1_Missense_Mutation_p.G52S|PRICKLE4_ENST00000394259.1_Missense_Mutation_p.G12S|PRICKLE4_ENST00000394263.1_Missense_Mutation_p.G52S|PRICKLE4_ENST00000359201.5_Missense_Mutation_p.G52S			Q2TBC4	PRIC4_HUMAN	prickle homolog 4 (Drosophila)	12	PET. {ECO:0000255|PROSITE- ProRule:PRU00636}.					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)			TCTGAGCTTGGGTTCCCTTTG	0.542																																																0													140	115	123					6																	41751890		2203	4300	6503	SO:0001583	missense	29964			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.34G>A	chr6.hg19:g.41751890G>A	ENSP00000377803:p.Gly12Ser		A2A3M0|A6PVU1|B3KQ15|Q5T3D4|Q9NSV1	Missense_Mutation	SNP	ENST00000394260.1	hg19		.	.	.	.	.	.	.	.	.	.	G	15.41	2.826744	0.50739	.	.	ENSG00000124593	ENST00000458694;ENST00000359201;ENST00000394263;ENST00000394259;ENST00000394260	T;T;T;T;T	0.68624	-0.14;-0.33;-0.14;-0.34;-0.12	4.61	2.79	0.32731	.	0.160117	0.29892	N	0.010940	T	0.41442	0.1159	L	0.57536	1.79	0.09310	N	1	P	0.47910	0.902	P	0.46543	0.52	T	0.28650	-1.0037	10	0.15952	T	0.53	-8.6317	5.2819	0.15680	0.1041:0.0:0.6944:0.2015	.	52	Q2TBC4-3	.	S	52;52;52;12;12	ENSP00000404911:G52S;ENSP00000352128:G52S;ENSP00000377806:G52S;ENSP00000377802:G12S;ENSP00000377803:G12S	ENSP00000335185:G52S	G	+	1	0	PRICKLE4	41859868	0.041000	0.20044	0.003000	0.11579	0.193000	0.23685	1.999000	0.40806	0.540000	0.28808	0.491000	0.48974	GGT		0.542	PRICKLE4-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000303948.1	NM_013397		A	41751890	G	A	41751890	3	1	771	1	0	0	0	0	1	0	0	0	12494	1232	43	2	160	2	PRICKLE4	6	41751890	Missense_Mutation	SNP	G	TCGA-P4-A5E6-01A-11D-A28G-10	11292485	41751890	129363177	41	45480											
CASP8AP2	9994	hgsc.bcm.edu	37	6	90578032	90578032	+	RNA	SNP	G	G	C			TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr6:90578032G>C	ENST00000551025.1	+	0	6460									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)		CTCACACTCTGTTGGGGAACA	0.378																																					Colon(187;1656 2025 17045 31481 39901)											0													49	50	49					6																	90578032		1888	4122	6010			9994			AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"FLICE-associated huge protein"	606880	"CASP8 associated protein 2"			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		chr6.hg19:g.90578032G>C				Missense_Mutation	SNP	ENST00000551025.1	hg19																																																																																					0.378	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		NM_001137667		C	90578032	G	C	90578032	1	2	771	0	1	0	0	0	0	0	0	0	2680	1377	48	4		4	CASP8AP2	6	90578032	RNA	SNP	G	TCGA-P4-A5E6-01A-11D-A28G-10	48826142	90578032	80537035	42	45481											
RFX6	222546	hgsc.bcm.edu	37	6	117203548	117203548	+	Frame_Shift_Del	DEL	C	C	-			TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr6:117203548delC	ENST00000332958.2	+	4	539	c.523delC	c.(523-525)cccfs	p.P175fs		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	175					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CCAGAAGTTTCCCCTCCTAAC	0.413																																																0													105	92	96					6																	117203548		2203	4300	6503	SO:0001589	frameshift_variant	222546			BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"regulatory factor X domain containing 1"	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.523delC	chr6.hg19:g.117203548delC	ENSP00000332208:p.Pro175fs		Q5T6B3	Frame_Shift_Del	DEL	ENST00000332958.2	hg19	CCDS5113.1																																																																																				0.413	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		-	117203548	C	-	117203548	7	5	771	1	0	1	0	1	0	0	0	0	13273	855	30	0	537	0	RFX6	6	117203548	Frame_Shift_Del	DEL	C	TCGA-P4-A5E6-01A-11D-A28G-10	26625516	117203548	53911519	43	45482											
NFE2L3	9603	hgsc.bcm.edu	37	7	26224503	26224503	+	Missense_Mutation	SNP	G	G	T			TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr7:26224503G>T	ENST00000056233.3	+	4	1444	c.1185G>T	c.(1183-1185)atG>atT	p.M395I		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	395					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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						TAAACTTAATGTCATTGGCCA	0.363																																																0													89	93	92					7																	26224503		2203	4300	6503	SO:0001583	missense	9603			AB010812	CCDS5396.1	7p15.2	2013-08-23	2013-08-23		ENSG00000050344	ENSG00000050344		"basic leucine zipper proteins"	7783	protein-coding gene	gene with protein product		604135	"nuclear factor (erythroid-derived 2)-like 3"			10037736	Standard	NM_004289		Approved	Nrf3	uc003sxq.3	Q9Y4A8	OTTHUMG00000023882	ENST00000056233.3:c.1185G>T	chr7.hg19:g.26224503G>T	ENSP00000056233:p.Met395Ile		Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Missense_Mutation	SNP	ENST00000056233.3	hg19	CCDS5396.1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.714423	0.30413	.	.	ENSG00000050344	ENST00000056233;ENST00000398175	T	0.32988	1.43	5.12	1.16	0.20824	.	0.373144	0.32328	N	0.006247	T	0.33030	0.0849	M	0.78049	2.395	0.28293	N	0.923461	B	0.14805	0.011	B	0.13407	0.009	T	0.34950	-0.9808	10	0.54805	T	0.06	-0.9264	10.7382	0.46137	0.3412:0.0:0.6588:0.0	.	395	Q9Y4A8	NF2L3_HUMAN	I	395;101	ENSP00000056233:M395I	ENSP00000056233:M395I	M	+	3	0	NFE2L3	26191028	0.998000	0.40836	0.717000	0.30585	0.799000	0.45148	2.503000	0.45407	0.259000	0.21709	-0.229000	0.12294	ATG		0.363	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214088.1			T	26224503	G	T	26224503	3	4	771	1	0	0	0	0	1	0	0	0	10371	1377	48	4	1199	4	NFE2L3	7	26224503	Missense_Mutation	SNP	G	TCGA-P4-A5E6-01A-11D-A28G-10		26224503	132914160	44	45483											
POU6F2	11281	hgsc.bcm.edu	37	7	39500162	39500162	+	Silent	SNP	G	G	T	rs548578851		TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr7:39500162G>T	ENST00000403058.1	+	10	1573	c.1419G>T	c.(1417-1419)gcG>gcT	p.A473A	POU6F2_ENST00000518318.2_Silent_p.A473A|POU6F2_ENST00000559001.1_Silent_p.A418A	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2	473					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)			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						AAACGGCAGCGGGTGAGGTGG	0.473																																																0													55	49	51					7																	39500162		2203	4300	6503	SO:0001819	synonymous_variant	11281			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.1419G>T	chr7.hg19:g.39500162G>T			A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	Silent	SNP	ENST00000403058.1	hg19	CCDS34620.2																																																																																				0.473	POU6F2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320146.3	NM_007252		T	39500162	G	T	39500162	2	4	771	1	0	0	0	0	0	0	0	1	12287	1103	39	4		4	POU6F2	7	39500162	Silent	SNP	G	TCGA-P4-A5E6-01A-11D-A28G-10	13275659	39500162	119638501	45	45484											
COL14A1	7373	hgsc.bcm.edu	37	8	121357692	121357692	+	Missense_Mutation	SNP	C	C	T			TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr8:121357692C>T	ENST00000297848.3	+	45	5237	c.4967C>T	c.(4966-4968)cCt>cTt	p.P1656L	COL14A1_ENST00000309791.4_Missense_Mutation_p.P1656L|COL14A1_ENST00000247781.3_Missense_Mutation_p.P1561L	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)			CAAGGGCCTCCTGGGGAGCCT	0.622																																																0													59	58	58					8																	121357692		2203	4300	6503	SO:0001583	missense	7373				CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"Collagens", "Fibronectin type III domain containing"	2191	protein-coding gene	gene with protein product		120324	"undulin"	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.4967C>T	chr8.hg19:g.121357692C>T	ENSP00000297848:p.Pro1656Leu			Missense_Mutation	SNP	ENST00000297848.3	hg19	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.621078	0.87460	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781;ENST00000440844	D;D;D;D	0.98684	-3.87;-3.87;-3.87;-5.07	5.54	4.67	0.58626	.	0.048120	0.85682	D	0.000000	D	0.99032	0.9669	M	0.86502	2.82	0.80722	D	1	D	0.56746	0.977	D	0.69307	0.963	D	0.99226	1.0880	10	0.49607	T	0.09	.	12.3879	0.55343	0.0:0.9213:0.0:0.0787	.	1656	Q05707	COEA1_HUMAN	L	1656;1656;1561;3	ENSP00000311809:P1656L;ENSP00000297848:P1656L;ENSP00000247781:P1561L;ENSP00000403640:P3L	ENSP00000247781:P1561L	P	+	2	0	COL14A1	121426873	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	6.600000	0.74132	1.364000	0.46038	0.555000	0.69702	CCT		0.622	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		T	121357692	C	T	121357692	3	4	771	1	0	0	0	0	1	0	0	0	3673	681	24	2	5141	2	COL14A1	8	121357692	Missense_Mutation	SNP	C	TCGA-P4-A5E6-01A-11D-A28G-10		121357692	25006330	46	45485											
EIF2C2	27161	hgsc.bcm.edu	37	8	141557696	141557696	+	Missense_Mutation	SNP	A	A	G			TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr8:141557696A>G	ENST00000220592.5	-	13	1731	c.1619T>C	c.(1618-1620)cTg>cCg	p.L540P	AGO2_ENST00000519980.1_Missense_Mutation_p.L540P	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	540	Interaction with guide RNA.|Piwi. {ECO:0000255|HAMAP-Rule:MF_03031}.				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)										GGCCATCCCCAGCACCGTGTC	0.637																																																0													182	140	154					8																	141557696		2203	4300	6503	SO:0001583	missense	27161			AF121255	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908		"Argonaute/PIWI family"	3263	protein-coding gene	gene with protein product	"argonaute 2"	606229	"eukaryotic translation initiation factor 2C, 2"	EIF2C2		10534406, 12906857	Standard	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	Q9UKV8	OTTHUMG00000164232	ENST00000220592.5:c.1619T>C	chr8.hg19:g.141557696A>G	ENSP00000220592:p.Leu540Pro		Q8TCZ5|Q8WV58|Q96ID1	Missense_Mutation	SNP	ENST00000220592.5	hg19	CCDS6380.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.212273	0.79240	.	.	ENSG00000123908	ENST00000220592;ENST00000519980	T;T	0.35236	1.32;1.32	5.49	5.49	0.81192	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.69958	0.3169	M	0.94021	3.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	T	0.79259	-0.1877	10	0.87932	D	0	-13.6154	15.5836	0.76465	1.0:0.0:0.0:0.0	.	540;540	Q9UKV8-2;Q9UKV8	.;AGO2_HUMAN	P	540	ENSP00000220592:L540P;ENSP00000430176:L540P	ENSP00000220592:L540P	L	-	2	0	EIF2C2	141626878	1.000000	0.71417	0.973000	0.42090	0.690000	0.40134	9.193000	0.94954	2.076000	0.62316	0.533000	0.62120	CTG		0.637	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377866.4			G	141557696	A	G	141557696	3	3	771	1	0	0	0	0	1	0	0	0	5008	188	7	3	988	3	EIF2C2	8	141557696	Missense_Mutation	SNP	A	TCGA-P4-A5E6-01A-11D-A28G-10	20200004	141557696	4806326	47	45486											
TRPM6	140803	hgsc.bcm.edu	37	9	77435298	77435298	+	Missense_Mutation	SNP	C	C	G			TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr9:77435298C>G	ENST00000360774.1	-	9	1293	c.1056G>C	c.(1054-1056)caG>caC	p.Q352H	TRPM6_ENST00000361255.3_Missense_Mutation_p.Q347H|TRPM6_ENST00000449912.2_Missense_Mutation_p.Q347H|TRPM6_ENST00000451710.3_Missense_Mutation_p.Q352H|TRPM6_ENST00000376871.3_Missense_Mutation_p.Q352H|TRPM6_ENST00000376864.4_Missense_Mutation_p.Q352H|TRPM6_ENST00000376872.3_Missense_Mutation_p.Q352H|TRPM6_ENST00000483186.1_5'UTR	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	352					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						TGAAAGTGTTCTGAATCATGC	0.438																																																0													148	135	140					9																	77435298		2203	4300	6503	SO:0001583	missense	140803			AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"Voltage-gated ion channels / Transient receptor potential cation channels"	17995	protein-coding gene	gene with protein product		607009	"hypomagnesemia, secondary hypocalcemia"	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.1056G>C	chr9.hg19:g.77435298C>G	ENSP00000354006:p.Gln352His		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	hg19	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.544685	0.65198	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21	5.37	4.36	0.52297	.	0.122952	0.64402	D	0.000020	T	0.79476	0.4452	M	0.78456	2.415	0.43617	D	0.995992	D;D;P;P	0.71674	0.998;0.998;0.951;0.896	D;D;P;P	0.67382	0.951;0.951;0.765;0.694	T	0.81861	-0.0738	10	0.87932	D	0	.	11.9834	0.53133	0.0:0.8466:0.0:0.1534	.	352;352;352;347	Q9BX84-6;Q9BX84-5;Q9BX84;Q9BX84-3	.;.;TRPM6_HUMAN;.	H	352;352;352;352;347;347;352;15;15	ENSP00000354006:Q352H;ENSP00000407341:Q352H;ENSP00000366068:Q352H;ENSP00000366067:Q352H;ENSP00000396672:Q347H;ENSP00000354962:Q347H;ENSP00000366060:Q352H	ENSP00000309693:Q15H	Q	-	3	2	TRPM6	76625118	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	0.737000	0.26144	2.500000	0.84329	0.655000	0.94253	CAG		0.438	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		G	77435298	C	G	77435298	3	3	771	1	0	0	0	0	1	0	0	0	16595	912	32	4	5136	4	TRPM6	9	77435298	Missense_Mutation	SNP	C	TCGA-P4-A5E6-01A-11D-A28G-10		77435298	63778133	48	45487											
TEX10	54881	hgsc.bcm.edu	37	9	103109141	103109141	+	Missense_Mutation	SNP	C	C	G			TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr9:103109141C>G	ENST00000374902.4	-	3	904	c.728G>C	c.(727-729)aGt>aCt	p.S243T	TEX10_ENST00000537512.1_Missense_Mutation_p.S178T|TEX10_ENST00000535814.1_Missense_Mutation_p.S246T	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	243						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|MLL1 complex (GO:0071339)				NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TCTCAACCTACTGGATCCATC	0.448																																																0													122	118	119					9																	103109141		2203	4300	6503	SO:0001583	missense	54881			AB060968	CCDS6748.1, CCDS55330.1	9q31.1	2012-05-02	2007-03-13		ENSG00000136891	ENSG00000136891			25988	protein-coding gene	gene with protein product			"testis expressed gene 10", "testis expressed sequence 10"			12477932	Standard	NM_017746		Approved	FLJ20287, bA208F1.2, Ipi1	uc004bas.3	Q9NXF1	OTTHUMG00000020366	ENST00000374902.4:c.728G>C	chr9.hg19:g.103109141C>G	ENSP00000364037:p.Ser243Thr		B4DYV2|Q5T722|Q5T723|Q8NCN8|Q8TDY0	Missense_Mutation	SNP	ENST00000374902.4	hg19	CCDS6748.1	.	.	.	.	.	.	.	.	.	.	C	9.748	1.166577	0.21621	.	.	ENSG00000136891	ENST00000535814;ENST00000374902;ENST00000444730;ENST00000537512	.	.	.	5.26	4.31	0.51392	Armadillo-type fold (1);	0.430875	0.29932	N	0.010833	T	0.29288	0.0729	N	0.12182	0.205	0.38372	D	0.944907	B;B;B;B;B	0.29766	0.002;0.007;0.11;0.256;0.002	B;B;B;B;B	0.21360	0.003;0.004;0.011;0.034;0.003	T	0.20638	-1.0269	9	0.29301	T	0.29	-9.3945	9.3406	0.38079	0.0:0.7187:0.1367:0.1446	.	178;246;111;111;243	B7Z9D5;B4DYV2;E7ERG2;B4DQR0;Q9NXF1	.;.;.;.;TEX10_HUMAN	T	246;243;111;178	.	ENSP00000364037:S243T	S	-	2	0	TEX10	102148962	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.669000	0.37492	2.450000	0.82876	0.655000	0.94253	AGT		0.448	TEX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053416.1	NM_017746		G	103109141	C	G	103109141	3	3	771	1	0	0	0	0	1	0	0	0	15777	565	20	4	2113	4	TEX10	9	103109141	Missense_Mutation	SNP	C	TCGA-P4-A5E6-01A-11D-A28G-10	25673843	103109141	38104290	49	45488											
EGFL7	51162	hgsc.bcm.edu	37	9	139564703	139564703	+	Missense_Mutation	SNP	G	G	C			TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr9:139564703G>C	ENST00000371699.1	+	7	1403	c.492G>C	c.(490-492)tgG>tgC	p.W164C	EGFL7_ENST00000406555.3_Missense_Mutation_p.W164C|MIR126_ENST00000362291.1_RNA|EGFL7_ENST00000492002.1_3'UTR|EGFL7_ENST00000371698.3_Missense_Mutation_p.W164C|EGFL7_ENST00000308874.7_Missense_Mutation_p.W164C			Q9UHF1	EGFL7_HUMAN	EGF-like-domain, multiple 7	164	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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)		GCCAGTGTTGGGAGGGGCACA	0.652																																																0													28	30	29					9																	139564703		2198	4297	6495	SO:0001583	missense	51162			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.492G>C	chr9.hg19:g.139564703G>C	ENSP00000360764:p.Trp164Cys		B3KRP0|M9VTX9|Q5M7Y5|Q5VUD5|Q96EG0	Missense_Mutation	SNP	ENST00000371699.1	hg19	CCDS7002.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.802260	0.50315	.	.	ENSG00000172889	ENST00000371699;ENST00000308874;ENST00000406555;ENST00000371698	T;T;T;T	0.36157	1.27;1.27;1.27;1.27	5.26	2.31	0.28768	EGF-like calcium-binding (2);	1.149640	0.06146	N	0.673294	T	0.37785	0.1016	L	0.32530	0.975	0.45822	D	0.998694	D	0.56968	0.978	P	0.50754	0.649	T	0.04454	-1.0950	10	0.46703	T	0.11	-0.7885	7.8608	0.29509	0.1492:0.1325:0.7182:0.0	.	164	Q9UHF1	EGFL7_HUMAN	C	164	ENSP00000360764:W164C;ENSP00000307843:W164C;ENSP00000385639:W164C;ENSP00000360763:W164C	ENSP00000307843:W164C	W	+	3	0	EGFL7	138684524	0.247000	0.23920	0.257000	0.24404	0.612000	0.37316	0.439000	0.21575	0.188000	0.20168	0.561000	0.74099	TGG		0.652	EGFL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055094.1	NM_016215		C	139564703	G	C	139564703	3	2	771	1	0	0	0	0	1	0	0	0	4966	1241	43	4	510	4	EGFL7	9	139564703	Missense_Mutation	SNP	G	TCGA-P4-A5E6-01A-11D-A28G-10	36455562	139564703	1648728	50	45489											
TRAF2	7186	hgsc.bcm.edu	37	9	139794876	139794876	+	Silent	SNP	C	C	G			TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr9:139794876C>G	ENST00000247668.2	+	4	322	c.270C>G	c.(268-270)gcC>gcG	p.A90A	TRAF2_ENST00000359662.3_Silent_p.A90A|TRAF2_ENST00000536468.1_Silent_p.A90A	NM_021138.3	NP_066961.2	Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	90					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)		CTCCCCAGGCCTTCCCAGATA	0.577																																																0													43	38	39					9																	139794876		2203	4300	6503	SO:0001819	synonymous_variant	7186			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.270C>G	chr9.hg19:g.139794876C>G			A8K107|B4DPJ7|Q7Z337|Q96NT2	Silent	SNP	ENST00000247668.2	hg19	CCDS7013.1																																																																																				0.577	TRAF2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055166.1	NM_021138		G	139794876	C	G	139794876	2	3	771	1	0	0	0	0	0	0	0	1	16443	668	24	4		4	TRAF2	9	139794876	Silent	SNP	C	TCGA-P4-A5E6-01A-11D-A28G-10	230173	139794876	1418555	51	45490											
VIM	7431	hgsc.bcm.edu	37	10	17278345	17278345	+	Silent	SNP	T	T	G			TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr10:17278345T>G	ENST00000224237.5	+	8	1471	c.1326T>G	c.(1324-1326)ctT>ctG	p.L442L	RP11-124N14.3_ENST00000456355.1_RNA|VIM_ENST00000544301.1_Silent_p.L442L			P08670	VIME_HUMAN	vimentin	442	Tail.			L -> F (in Ref. 1; AAA61279). {ECO:0000305}.	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						AAAGGACACTTCTGATTAAGA	0.348																																																0													150	165	160					10																	17278345		2203	4300	6503	SO:0001819	synonymous_variant	7431			M14144	CCDS7120.1	10p13	2013-01-16			ENSG00000026025	ENSG00000026025		"Intermediate filaments type III"	12692	protein-coding gene	gene with protein product		193060					Standard	NM_003380		Approved		uc001iou.2	P08670	OTTHUMG00000017744	ENST00000224237.5:c.1326T>G	chr10.hg19:g.17278345T>G			B0YJC2|D3DRU4|Q15867|Q15868|Q15869|Q548L2|Q6LER9|Q8N850|Q96ML2|Q9NTM3	Silent	SNP	ENST00000224237.5	hg19	CCDS7120.1																																																																																				0.348	VIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047015.1	NM_003380		G	17278345	T	G	17278345	2	3	771	1	0	0	0	0	0	0	0	1	17171	1770	62	5		5	VIM	10	17278345	Silent	SNP	T	TCGA-P4-A5E6-01A-11D-A28G-10		17278345	118256402	52	45491											
ARHGAP21	57584	hgsc.bcm.edu	37	10	24873742	24873742	+	Missense_Mutation	SNP	C	C	T	rs370251256		TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr10:24873742C>T	ENST00000396432.2	-	26	5962	c.5476G>A	c.(5476-5478)Ggg>Agg	p.G1826R		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1825	Interaction with CTNNA1.				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						TCTCTCTCCCCGCTCTGCTCA	0.498																																																0								C	ARG/GLY	0,4406		0,0,2203	62	63	63		5476	3.3	0	10		63	1,8599	1.2+/-3.3	0,1,4299	no	missense	ARHGAP21	NM_020824.3	125	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	1826/1959	24873742	1,13005	2203	4300	6503	SO:0001583	missense	57584			AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.5476G>A	chr10.hg19:g.24873742C>T	ENSP00000379709:p.Gly1826Arg		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	hg19	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	C	1.589	-0.529652	0.04112	0.0	1.16E-4	ENSG00000107863	ENST00000396432;ENST00000447364	T	0.11712	2.75	5.13	3.27	0.37495	.	1.152260	0.06177	N	0.678642	T	0.06416	0.0165	N	0.16307	0.4	0.18873	N	0.999984	B	0.09022	0.002	B	0.04013	0.001	T	0.42207	-0.9465	10	0.18710	T	0.47	.	2.6596	0.05023	0.2147:0.4829:0.0:0.3023	.	1825	Q5T5U3	RHG21_HUMAN	R	1826;1275	ENSP00000379709:G1826R	ENSP00000379709:G1826R	G	-	1	0	ARHGAP21	24913748	0.000000	0.05858	0.002000	0.10522	0.007000	0.05969	0.682000	0.25335	1.139000	0.42245	0.655000	0.94253	GGG		0.498	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		T	24873742	C	T	24873742	3	4	771	1	0	0	0	0	1	0	0	0	871	652	23	1	404	1	ARHGAP21	10	24873742	Missense_Mutation	SNP	C	TCGA-P4-A5E6-01A-11D-A28G-10	7595397	24873742	110661005	53	45492											
RBP3	5949	hgsc.bcm.edu	37	10	48388918	48388918	+	Missense_Mutation	SNP	G	G	C			TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr10:48388918G>C	ENST00000224600.4	-	1	2073	c.1960C>G	c.(1960-1962)Cca>Gca	p.P654A	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	654	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)	ACGACCTCTGGCCGAGCATAG	0.672																																																0													16	18	17					10																	48388918		2197	4286	6483	SO:0001583	missense	5949			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.1960C>G	chr10.hg19:g.48388918G>C	ENSP00000224600:p.Pro654Ala		Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	ENST00000224600.4	hg19	CCDS7218.1	.	.	.	.	.	.	.	.	.	.	G	7.421	0.636769	0.14386	.	.	ENSG00000107618	ENST00000224600	T	0.39997	1.05	5.53	5.53	0.82687	.	0.128692	0.53938	D	0.000058	T	0.47322	0.1439	M	0.76170	2.325	0.38359	D	0.944551	P	0.34562	0.457	B	0.31390	0.129	T	0.57894	-0.7732	10	0.87932	D	0	-14.2089	18.4586	0.90729	0.0:0.0:1.0:0.0	.	654	P10745	RET3_HUMAN	A	654	ENSP00000224600:P654A	ENSP00000224600:P654A	P	-	1	0	RBP3	48008924	1.000000	0.71417	0.047000	0.18901	0.002000	0.02628	5.637000	0.67854	2.628000	0.89032	0.561000	0.74099	CCA		0.672	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		C	48388918	G	C	48388918	3	2	771	1	0	0	0	0	1	0	0	0	13163	1203	42	4	1799	4	RBP3	10	48388918	Missense_Mutation	SNP	G	TCGA-P4-A5E6-01A-11D-A28G-10	23515176	48388918	87145829	54	45493											
ERCC6	2074	hgsc.bcm.edu	37	10	50681040	50681040	+	Missense_Mutation	SNP	C	C	T			TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr10:50681040C>T	ENST00000355832.5	-	15	2822	c.2744G>A	c.(2743-2745)cGg>cAg	p.R915Q	ERCC6_ENST00000465653.1_5'Flank|RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000542458.1_Missense_Mutation_p.R285Q	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	915	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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						GCCGCCCACCCGCGTGGTCAG	0.498								Direct reversal of damage;Nucleotide excision repair (NER)																																								0													66	61	63					10																	50681040		2203	4300	6503	SO:0001583	missense	2074			L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"Cockayne syndrome B protein"	609413	"excision repair cross-complementing rodent repair deficiency, complementation group 6"	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.2744G>A	chr10.hg19:g.50681040C>T	ENSP00000348089:p.Arg915Gln		D3DX94|Q5W0L9	Missense_Mutation	SNP	ENST00000355832.5	hg19	CCDS7229.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.199652	0.79015	.	.	ENSG00000225830	ENST00000355832;ENST00000374129;ENST00000542458	T;T	0.74842	-0.88;-0.88	5.88	5.88	0.94601	Helicase, C-terminal (3);	.	.	.	.	D	0.88093	0.6344	M	0.83603	2.65	0.48341	D	0.999631	D;D	0.89917	1.0;0.999	D;D	0.76575	0.987;0.988	D	0.88520	0.3095	9	0.72032	D	0.01	-20.7418	20.2422	0.98381	0.0:1.0:0.0:0.0	.	915;292	Q03468;Q59FF6	ERCC6_HUMAN;.	Q	915;292;285	ENSP00000348089:R915Q;ENSP00000445134:R285Q	ENSP00000348089:R915Q	R	-	2	0	ERCC6	50351046	0.998000	0.40836	0.702000	0.30337	0.338000	0.28826	3.873000	0.56093	2.782000	0.95742	0.655000	0.94253	CGG		0.498	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124		T	50681040	C	T	50681040	3	4	771	1	0	0	0	0	1	0	0	0	5219	652	23	1	1765	1	ERCC6	10	50681040	Missense_Mutation	SNP	C	TCGA-P4-A5E6-01A-11D-A28G-10	2292122	50681040	84853707	55	45494											
CSTF2T	23283	hgsc.bcm.edu	37	10	53458361	53458361	+	Missense_Mutation	SNP	C	C	T			TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr10:53458361C>T	ENST00000331173.4	-	1	994	c.949G>A	c.(949-951)Gga>Aga	p.G317R	PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000373980.4_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	317	Gly-rich.				mRNA processing (GO:0006397)	intracellular (GO:0005622)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.G317R(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		GTCACGGGTCCGCGAGGTATA	0.567																																																1	Substitution - Missense(1)	large_intestine(1)											72	68	70					10																	53458361		2203	4300	6503	SO:0001583	missense	23283			AB014589	CCDS7245.1	10q11	2013-02-12			ENSG00000177613	ENSG00000177613		"RNA binding motif (RRM) containing"	17086	protein-coding gene	gene with protein product		611968				12408968, 11113135	Standard	NM_015235		Approved	DKFZp434C1013, KIAA0689, CstF-64T	uc001jjp.3	Q9H0L4	OTTHUMG00000018246	ENST00000331173.4:c.949G>A	chr10.hg19:g.53458361C>T	ENSP00000332444:p.Gly317Arg		B2RAR9|O75174|Q53HK6|Q7LGE8|Q8N6T1	Missense_Mutation	SNP	ENST00000331173.4	hg19	CCDS7245.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.169805	0.78452	.	.	ENSG00000177613	ENST00000331173	T	0.22539	1.95	4.7	4.7	0.59300	.	0.449653	0.22819	N	0.055255	T	0.41994	0.1183	L	0.55481	1.735	0.53688	D	0.999972	D	0.89917	1.0	D	0.97110	1.0	T	0.13737	-1.0498	10	0.52906	T	0.07	-7.9329	15.5353	0.75998	0.0:1.0:0.0:0.0	.	317	Q9H0L4	CSTFT_HUMAN	R	317	ENSP00000332444:G317R	ENSP00000332444:G317R	G	-	1	0	CSTF2T	53128367	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.116000	0.71571	2.613000	0.88420	0.655000	0.94253	GGA		0.567	CSTF2T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048097.1	NM_015235		T	53458361	C	T	53458361	3	4	771	1	0	0	0	0	1	0	0	0	3987	661	23	1	905	1	CSTF2T	10	53458361	Missense_Mutation	SNP	C	TCGA-P4-A5E6-01A-11D-A28G-10	2777321	53458361	82076386	56	45495											
COL13A1	1305	hgsc.bcm.edu	37	10	71562297	71562297	+	Missense_Mutation	SNP	C	C	T	rs561022104	byFrequency	TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr10:71562297C>T	ENST00000398978.3	+	1	610	c.118C>T	c.(118-120)Ccg>Tcg	p.P40S	COL13A1_ENST00000398971.3_Missense_Mutation_p.P40S|COL13A1_ENST00000354547.3_Missense_Mutation_p.P40S|COL13A1_ENST00000398969.3_Missense_Mutation_p.P40S|COL13A1_ENST00000520133.1_Missense_Mutation_p.P40S|COL13A1_ENST00000398972.3_Missense_Mutation_p.P40S|COL13A1_ENST00000398974.3_Missense_Mutation_p.P40S|COL13A1_ENST00000398973.3_Missense_Mutation_p.P40S|COL13A1_ENST00000356340.3_Missense_Mutation_p.P40S|COL13A1_ENST00000522165.1_Missense_Mutation_p.P40S|COL13A1_ENST00000357811.3_Missense_Mutation_p.P40S|COL13A1_ENST00000398964.3_Missense_Mutation_p.P40S|COL13A1_ENST00000520267.1_Missense_Mutation_p.P40S|COL13A1_ENST00000398966.3_Missense_Mutation_p.P40S|COL13A1_ENST00000398968.3_Missense_Mutation_p.P40S|COL13A1_ENST00000517713.1_Missense_Mutation_p.P40S	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						CGCACGGCTGCCGAGTCCAGG	0.766													C|||	2	0.000399361	0.0015	0.0	5008	,	,		8844	0.0		0.0	False		,,,				2504	0.0															0													12	14	13					10																	71562297		1839	3975	5814	SO:0001583	missense	1305			AJ293624	CCDS44419.1, CCDS44423.1, CCDS44424.1, CCDS44425.1, CCDS44427.1, CCDS44428.1, CCDS44423.2, CCDS44424.2, CCDS44425.2, CCDS44427.2, CCDS44428.2	10q22	2013-01-16			ENSG00000197467	ENSG00000197467		"Collagens"	2190	protein-coding gene	gene with protein product		120350					Standard	NM_001130103		Approved		uc001jql.3	Q5TAT6	OTTHUMG00000018394	ENST00000398978.3:c.118C>T	chr10.hg19:g.71562297C>T	ENSP00000381949:p.Pro40Ser			Missense_Mutation	SNP	ENST00000398978.3	hg19	CCDS44419.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.024834	0.54683	.	.	ENSG00000197467	ENST00000398974;ENST00000398971;ENST00000398968;ENST00000398966;ENST00000398964;ENST00000398969;ENST00000356340;ENST00000398972;ENST00000398973;ENST00000398978;ENST00000354547;ENST00000357811;ENST00000520267;ENST00000517713;ENST00000522165;ENST00000520133	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91686	-2.74;-2.66;-2.7;-2.79;-2.89;-2.7;-2.73;-2.6;-2.72;-2.72;-2.7;-2.71;-2.66;-2.61;-2.66;-2.61	5.24	5.24	0.73138	.	0.000000	0.42294	D	0.000732	D	0.92172	0.7518	N	0.22421	0.69	0.29823	N	0.830659	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.69078	0.993;0.996;0.997;0.993;0.994;0.994;0.994;0.997;0.994;0.994;0.997;0.997;0.997;0.996;0.997;0.997;0.994;0.996	D;D;P;D;P;P;P;D;P;P;P;P;D;D;P;P;P;D	0.78314	0.979;0.991;0.9;0.979;0.796;0.796;0.796;0.986;0.796;0.723;0.9;0.9;0.986;0.991;0.9;0.9;0.796;0.991	D	0.88496	0.3079	10	0.44086	T	0.13	-5.5417	13.2925	0.60278	0.0:0.9204:0.0:0.0796	.	40;40;40;40;40;40;40;40;40;40;40;40;40;40;40;40;40;40	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;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	S	40	ENSP00000381946:P40S;ENSP00000381943:P40S;ENSP00000381940:P40S;ENSP00000381938:P40S;ENSP00000381936:P40S;ENSP00000381941:P40S;ENSP00000348695:P40S;ENSP00000381944:P40S;ENSP00000381945:P40S;ENSP00000381949:P40S;ENSP00000346553:P40S;ENSP00000350463:P40S;ENSP00000428057:P40S;ENSP00000430061:P40S;ENSP00000428342:P40S;ENSP00000430173:P40S	ENSP00000346553:P40S	P	+	1	0	COL13A1	71232303	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	3.084000	0.50143	2.462000	0.83206	0.456000	0.33151	CCG		0.766	COL13A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048468.1	NM_005203		T	71562297	C	T	71562297	3	4	771	1	0	0	0	0	1	0	0	0	3672	739	26	2	120	2	COL13A1	10	71562297	Missense_Mutation	SNP	C	TCGA-P4-A5E6-01A-11D-A28G-10	18103936	71562297	63972450	57	45496											
RNLS	55328	hgsc.bcm.edu	37	10	90342858	90342858	+	Silent	SNP	A	A	C			TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr10:90342858A>C	ENST00000331772.4	-	1	112	c.90T>G	c.(88-90)ctT>ctG	p.L30L	Y_RNA_ENST00000364678.1_RNA|RNLS_ENST00000466945.1_5'UTR|RNLS_ENST00000437752.1_Silent_p.L30L|RNLS_ENST00000371947.3_Silent_p.L30L	NM_001031709.2	NP_001026879.2	Q5VYX0	RNLS_HUMAN	renalase, FAD-dependent amine oxidase	30					cardiac left ventricle morphogenesis (GO:0003214)|dopamine metabolic process (GO:0042417)|epinephrine metabolic process (GO:0042414)|heart contraction (GO:0060047)|norepinephrine metabolic process (GO:0042415)|phosphate ion homeostasis (GO:0055062)|regulation of systemic arterial blood pressure (GO:0003073)|response to epinephrine (GO:0071871)|response to ischemia (GO:0002931)|response to norepinephrine (GO:0071873)|response to salt (GO:1902074)	extracellular space (GO:0005615)	oxidoreductase activity (GO:0016491)			breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						CCCACACAGCAAGGTACAAGG	0.632											OREG0020353	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													65	63	64					10																	90342858		2203	4300	6503	SO:0001819	synonymous_variant	55328			BC005364	CCDS7388.1, CCDS31239.1	10q23.31	2009-04-22	2009-04-22	2009-04-22	ENSG00000184719	ENSG00000184719			25641	protein-coding gene	gene with protein product		609360	"chromosome 10 open reading frame 59"	C10orf59		15841207, 17565281	Standard	NM_001031709		Approved	FLJ11218, renalase	uc001kfe.3	Q5VYX0	OTTHUMG00000018692	ENST00000331772.4:c.90T>G	chr10.hg19:g.90342858A>C		1274	Q9BS33|Q9NUP8	Silent	SNP	ENST00000331772.4	hg19	CCDS31239.1																																																																																				0.632	RNLS-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049250.1	NM_018363		C	90342858	A	C	90342858	2	2	771	1	0	0	0	0	0	0	0	1	13511	117	5	5		5	RNLS	10	90342858	Silent	SNP	A	TCGA-P4-A5E6-01A-11D-A28G-10	18780561	90342858	45191889	58	45497											
NOC3L	64318	hgsc.bcm.edu	37	10	96121495	96121495	+	Silent	SNP	T	T	C			TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr10:96121495T>C	ENST00000371361.3	-	2	244	c.144A>G	c.(142-144)aaA>aaG	p.K48K	NOC3L_ENST00000463649.1_5'UTR|NOC3L_ENST00000371350.1_Silent_p.K48K	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	48					fat cell differentiation (GO:0045444)	nuclear speck (GO:0016607)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				CTTGCCTTAGTTTCCTCTGTT	0.368																																																0													308	272	284					10																	96121495		2203	4300	6503	SO:0001819	synonymous_variant	64318			AL355341	CCDS7433.1	10q23.33	2004-04-20	2005-08-01	2005-08-01	ENSG00000173145	ENSG00000173145			24034	protein-coding gene	gene with protein product		610769	"chromosome 10 open reading frame 117"	C10orf117		15564382	Standard	NM_022451		Approved	AD24, FLJ12820, FAD24	uc001kjq.1	Q8WTT2	OTTHUMG00000018788	ENST00000371361.3:c.144A>G	chr10.hg19:g.96121495T>C			Q9H5M6|Q9H9D8	Silent	SNP	ENST00000371361.3	hg19	CCDS7433.1																																																																																				0.368	NOC3L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049466.1	NM_022451		C	96121495	T	C	96121495	2	2	771	1	0	0	0	0	0	0	0	1	10516	1722	60	3		3	NOC3L	10	96121495	Silent	SNP	T	TCGA-P4-A5E6-01A-11D-A28G-10	5778637	96121495	39413252	59	45498											
PDZD8	118987	hgsc.bcm.edu	37	10	119134718	119134718	+	Silent	SNP	G	G	T			TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr10:119134718G>T	ENST00000334464.5	-	1	260	c.21C>A	c.(19-21)atC>atA	p.I7I		NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	7					cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|regulation of cell morphogenesis (GO:0022604)|viral process (GO:0016032)	membrane (GO:0016020)	metal ion binding (GO:0046872)			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		CCGACGCCAGGATCATGAGCA	0.741																																																0																																										SO:0001819	synonymous_variant	118987			AL122051	CCDS7600.1	10q26.12	2006-01-24		2006-01-24	ENSG00000165650	ENSG00000165650			26974	protein-coding gene	gene with protein product		614235		PDZK8		12477932	Standard	NM_173791		Approved	bA129M16.2, FLJ34427	uc001lde.1	Q8NEN9	OTTHUMG00000019122	ENST00000334464.5:c.21C>A	chr10.hg19:g.119134718G>T			Q86WE0|Q86WE5|Q9UFF1	Silent	SNP	ENST00000334464.5	hg19	CCDS7600.1																																																																																				0.741	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050565.1	NM_173791		T	119134718	G	T	119134718	2	4	771	1	0	0	0	0	0	0	0	1	11707	1164	41	4		4	PDZD8	10	119134718	Silent	SNP	G	TCGA-P4-A5E6-01A-11D-A28G-10	23013223	119134718	16400029	60	45499											
ZFP91	80829	hgsc.bcm.edu	37	11	58346868	58346868	+	Silent	SNP	G	G	A			TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr11:58346868G>A	ENST00000316059.6	+	1	285	c.114G>A	c.(112-114)gcG>gcA	p.A38A	ZFP91-CNTF_ENST00000389919.4_Silent_p.A38A|LPXN_ENST00000528489.1_5'Flank|LPXN_ENST00000528954.1_5'Flank	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	38	Ala-rich.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein K63-linked ubiquitination (GO:0070534)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				AGGCGGTCGCGGCGGCGCCTG	0.771																																																0													2	2	2					11																	58346868		1047	2260	3307	SO:0001819	synonymous_variant	80829			AB056107	CCDS31553.1	11q12	2012-11-27	2012-11-27		ENSG00000186660	ENSG00000186660		"Zinc fingers, C2H2-type"	14983	protein-coding gene	gene with protein product			"zinc finger protein homologous to Zfp91 in mouse", "zinc finger protein 91 homolog (mouse)"			12738986, 20682767	Standard	NM_053023		Approved	PZF, ZNF757	uc001nmx.4	Q96JP5	OTTHUMG00000137391	ENST00000316059.6:c.114G>A	chr11.hg19:g.58346868G>A			A6NHC4|A8MSG7|Q86V47|Q96JP4|Q96QA3	Silent	SNP	ENST00000316059.6	hg19	CCDS31553.1																																																																																				0.771	ZFP91-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268674.1	NM_053023		A	58346868	G	A	58346868	2	1	771	1	0	0	0	0	0	0	0	1	17660	1103	39	1		1	ZFP91	11	58346868	Silent	SNP	G	TCGA-P4-A5E6-01A-11D-A28G-10		58346868	76659648	61	45500											
ATG2A	23130	hgsc.bcm.edu	37	11	64681557	64681557	+	Missense_Mutation	SNP	C	C	A			TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr11:64681557C>A	ENST00000377264.3	-	3	595	c.483G>T	c.(481-483)gaG>gaT	p.E161D	ATG2A_ENST00000421419.2_Missense_Mutation_p.E161D	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	161					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						GCTCACCAGTCTCAATGGTCT	0.667																																																0													27	31	29					11																	64681557		2165	4236	6401	SO:0001583	missense	23130				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.483G>T	chr11.hg19:g.64681557C>A	ENSP00000366475:p.Glu161Asp		O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	ENST00000377264.3	hg19	CCDS31602.1	.	.	.	.	.	.	.	.	.	.	c	16.16	3.045338	0.55110	.	.	ENSG00000110046	ENST00000421419;ENST00000377264;ENST00000227459	T;T	0.56444	0.46;0.46	3.89	1.99	0.26369	.	0.000000	0.64402	D	0.000001	T	0.55449	0.1921	L	0.41236	1.265	0.44366	D	0.997264	D	0.63880	0.993	D	0.70016	0.967	T	0.49542	-0.8929	10	0.33940	T	0.23	.	5.9448	0.19213	0.0:0.666:0.0:0.334	.	161	Q2TAZ0	ATG2A_HUMAN	D	161	ENSP00000410522:E161D;ENSP00000366475:E161D	ENSP00000227459:E161D	E	-	3	2	ATG2A	64438133	1.000000	0.71417	0.998000	0.56505	0.950000	0.60333	0.697000	0.25556	0.439000	0.26476	0.457000	0.33378	GAG		0.667	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		A	64681557	C	A	64681557	3	1	771	1	0	0	0	0	1	0	0	0	1093	912	32	4	5489	4	ATG2A	11	64681557	Missense_Mutation	SNP	C	TCGA-P4-A5E6-01A-11D-A28G-10	6334689	64681557	70324959	62	45501											
C11orf80	79703	hgsc.bcm.edu	37	11	66610492	66610492	+	Silent	SNP	C	C	T	rs369989753	byFrequency	TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr11:66610492C>T	ENST00000360962.4	+	16	1927	c.1920C>T	c.(1918-1920)caC>caT	p.H640H	C11orf80_ENST00000532565.2_Silent_p.H422H|RCE1_ENST00000525356.1_5'Flank|RCE1_ENST00000524506.1_5'Flank|RCE1_ENST00000309657.3_5'Flank|C11orf80_ENST00000346672.4_Silent_p.H449H|C11orf80_ENST00000525449.2_Silent_p.H448H|C11orf80_ENST00000540737.1_Silent_p.H474H|C11orf80_ENST00000527634.1_Silent_p.H423H	NM_024650.3	NP_078926.3	Q8N6T0	CK080_HUMAN	chromosome 11 open reading frame 80	640										autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						GCGAGGCTCACGGCAGGGCCC	0.766													C|||	13	0.00259585	0.0098	0.0	5008	,	,		10475	0.0		0.0	False		,,,				2504	0.0															0								C		13,2905		0,13,1446	3	4	3		1920	1.1	0	11		3	0,6770		0,0,3385	no	coding-synonymous	C11orf80	NM_024650.3		0,13,4831	TT,TC,CC		0.0,0.4455,0.1342		640/678	66610492	13,9675	1459	3385	4844	SO:0001819	synonymous_variant	79703					11q13.2	2012-05-30			ENSG00000173715	ENSG00000173715			26197	protein-coding gene	gene with protein product						18160775	Standard	NM_024650		Approved	FLJ22531	uc021qmd.1	Q8N6T0	OTTHUMG00000167164	ENST00000360962.4:c.1920C>T	chr11.hg19:g.66610492C>T			Q9H677	Silent	SNP	ENST00000360962.4	hg19	CCDS53664.1																																																																																				0.766	C11orf80-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_024650		T	66610492	C	T	66610492	2	4	771	1	0	0	0	0	0	0	0	1	1666	535	19	1		1	C11orf80	11	66610492	Silent	SNP	C	TCGA-P4-A5E6-01A-11D-A28G-10	1928935	66610492	68396024	63	45502											
FOLR2	2350	hgsc.bcm.edu	37	11	71931920	71931920	+	Missense_Mutation	SNP	C	C	A			TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr11:71931920C>A	ENST00000298223.6	+	3	344	c.157C>A	c.(157-159)Ccc>Acc	p.P53T	FOLR2_ENST00000454954.2_Missense_Mutation_p.P12T|FOLR2_ENST00000449475.2_Missense_Mutation_p.P70T	NM_000803.4|NM_001113534.1|NM_001113535.1|NM_001113536.1	NP_000794.3|NP_001107006.1|NP_001107007.1|NP_001107008.1	P14207	FOLR2_HUMAN	folate receptor 2 (fetal)	53					folic acid transport (GO:0015884)	anchored component of external side of plasma membrane (GO:0031362)|extracellular region (GO:0005576)|membrane (GO:0016020)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)			breast(3)|large_intestine(3)|ovary(1)|skin(1)	8					Folic Acid(DB00158)	CCAGTGCAGTCCCTGGAAGAA	0.587																																																0													46	44	44					11																	71931920		2200	4293	6493	SO:0001583	missense	2350			AK222539	CCDS8212.1	11q13.3-q14.1	2010-04-08			ENSG00000165457	ENSG00000165457			3793	protein-coding gene	gene with protein product		136425				1133088, 7698003	Standard	NM_000803		Approved		uc009ytf.3	P14207	OTTHUMG00000150394	ENST00000298223.6:c.157C>A	chr11.hg19:g.71931920C>A	ENSP00000298223:p.Pro53Thr		Q05CA5|Q6GTE8	Missense_Mutation	SNP	ENST00000298223.6	hg19	CCDS8212.1	.	.	.	.	.	.	.	.	.	.	c	17.57	3.422312	0.62622	.	.	ENSG00000165457	ENST00000449475;ENST00000298223;ENST00000413873;ENST00000454954;ENST00000541003;ENST00000539412;ENST00000536778;ENST00000535625;ENST00000321324;ENST00000538353	T;T;T;T;T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02	4.25	2.38	0.29361	Folate receptor-like (1);	0.000000	0.85682	D	0.000000	D	0.88976	0.6584	M	0.93678	3.445	0.39744	D	0.971793	D	0.89917	1.0	D	0.97110	1.0	D	0.88102	0.2820	10	0.56958	D	0.05	.	8.6185	0.33847	0.0:0.8112:0.0:0.1888	.	53	P14207	FOLR2_HUMAN	T	70;53;70;12;99;64;68;53;66;53	ENSP00000405638:P70T;ENSP00000298223:P53T;ENSP00000414094:P12T;ENSP00000443307:P99T;ENSP00000441547:P64T;ENSP00000438568:P68T;ENSP00000444794:P53T;ENSP00000321957:P66T;ENSP00000440337:P53T	ENSP00000298223:P53T	P	+	1	0	FOLR2	71609568	0.920000	0.31207	0.934000	0.37439	0.977000	0.68977	3.796000	0.55507	0.435000	0.26365	0.455000	0.32223	CCC		0.587	FOLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317923.2	NM_000803		A	71931920	C	A	71931920	3	1	771	1	0	0	0	0	1	0	0	0	5984	855	30	4	163	4	FOLR2	11	71931920	Missense_Mutation	SNP	C	TCGA-P4-A5E6-01A-11D-A28G-10	5321428	71931920	63074596	64	45503											
BARX2	8538	hgsc.bcm.edu	37	11	129321185	129321185	+	Missense_Mutation	SNP	T	T	A			TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr11:129321185T>A	ENST00000281437.4	+	4	824	c.728T>A	c.(727-729)cTc>cAc	p.L243H	BARX2_ENST00000531946.1_Missense_Mutation_p.L121H|BARX2_ENST00000526127.1_Missense_Mutation_p.L98H	NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN	BARX homeobox 2	243					cartilage condensation (GO:0001502)|catagen (GO:0042637)|myotube differentiation (GO:0014902)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|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)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		CAGGAGGAGCTCTGTGAAGCA	0.582																																																0													72	66	68					11																	129321185		2201	4297	6498	SO:0001583	missense	8538			AF031924	CCDS8481.1	11q24.3	2011-06-20	2007-07-09		ENSG00000043039	ENSG00000043039		"Homeoboxes / ANTP class : NKL subclass"	956	protein-coding gene	gene with protein product		604823	"BarH-like homeobox 2"			10644443	Standard	NM_003658		Approved		uc001qfc.4	Q9UMQ3	OTTHUMG00000165776	ENST00000281437.4:c.728T>A	chr11.hg19:g.129321185T>A	ENSP00000281437:p.Leu243His		O43518|Q6NT51	Missense_Mutation	SNP	ENST00000281437.4	hg19	CCDS8481.1	.	.	.	.	.	.	.	.	.	.	T	18.48	3.632445	0.67015	.	.	ENSG00000043039	ENST00000281437;ENST00000526127;ENST00000531946	D;D;D	0.90385	-2.66;-2.27;-2.27	5.51	-1.59	0.08453	.	0.906017	0.09601	N	0.780189	D	0.83769	0.5326	L	0.29908	0.895	0.09310	N	0.999999	P	0.45348	0.856	B	0.40101	0.319	T	0.72701	-0.4214	10	0.41790	T	0.15	.	12.1971	0.54303	0.0:0.6898:0.0:0.3102	.	243	Q9UMQ3	BARX2_HUMAN	H	243;98;121	ENSP00000281437:L243H;ENSP00000451113:L98H;ENSP00000450418:L121H	ENSP00000281437:L243H	L	+	2	0	BARX2	128826395	0.188000	0.23250	0.043000	0.18650	0.326000	0.28443	0.364000	0.20325	-0.288000	0.09051	0.533000	0.62120	CTC		0.582	BARX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386153.1	NM_003658		A	129321185	T	A	129321185	3	1	771	1	0	0	0	0	1	0	0	0	1316	1551	54	5	742	5	BARX2	11	129321185	Missense_Mutation	SNP	T	TCGA-P4-A5E6-01A-11D-A28G-10	57389265	129321185	5685331	65	45504											
SHMT2	6472	hgsc.bcm.edu	37	12	57624649	57624649	+	Missense_Mutation	SNP	C	C	G			TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr12:57624649C>G	ENST00000328923.3	+	2	549	c.97C>G	c.(97-99)Cag>Gag	p.Q33E	Y_RNA_ENST00000365197.1_RNA|SHMT2_ENST00000393827.4_5'UTR|SHMT2_ENST00000557487.1_Missense_Mutation_p.Q33E|SHMT2_ENST00000414700.3_Missense_Mutation_p.Q12E|SHMT2_ENST00000449049.3_Missense_Mutation_p.Q12E|SHMT2_ENST00000554600.1_3'UTR|SHMT2_ENST00000553474.1_Missense_Mutation_p.Q12E	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)	33					glycine biosynthetic process from serine (GO:0019264)|L-serine biosynthetic process (GO:0006564)|one-carbon metabolic process (GO:0006730)|positive regulation of cell proliferation (GO:0008284)|protein homotetramerization (GO:0051289)|tetrahydrofolate interconversion (GO:0035999)	extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|chromatin binding (GO:0003682)|glycine hydroxymethyltransferase activity (GO:0004372)|L-allo-threonine aldolase activity (GO:0008732)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Tetrahydrofolic acid(DB00116)	CAACGCAGCCCAGACTCAGAC	0.582																																					Esophageal Squamous(150;1369 2416 49071 49364)											0													92	77	82					12																	57624649		2203	4300	6503	SO:0001583	missense	6472			AK223555	CCDS8934.1, CCDS53805.1, CCDS55837.1	12q12-q14	2006-03-27				ENSG00000182199	2.1.2.1		10852	protein-coding gene	gene with protein product		138450		SHMT		8999870	Standard	NM_005412		Approved		uc001snf.2	P34897		ENST00000328923.3:c.97C>G	chr12.hg19:g.57624649C>G	ENSP00000333667:p.Gln33Glu		B7Z9F1|E7EQ19|E7EU43|O00740|Q8N1A5	Missense_Mutation	SNP	ENST00000328923.3	hg19	CCDS8934.1	.	.	.	.	.	.	.	.	.	.	C	8.946	0.966931	0.18659	.	.	ENSG00000182199	ENST00000328923;ENST00000557487;ENST00000556689;ENST00000414700;ENST00000557703;ENST00000553529;ENST00000554310;ENST00000557427;ENST00000553474;ENST00000555773;ENST00000554975;ENST00000449049;ENST00000556737	T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59	4.81	3.85	0.44370	.	0.335256	0.29537	N	0.011879	T	0.10551	0.0258	N	0.08118	0	0.80722	D	1	B;B	0.11235	0.004;0.002	B;B	0.12837	0.008;0.005	T	0.31586	-0.9938	10	0.02654	T	1	-12.6294	3.4496	0.07493	0.1727:0.5679:0.1666:0.0929	.	33;33	Q8N1A5;P34897	.;GLYM_HUMAN	E	33;33;33;12;12;12;12;12;12;12;12;12;12	ENSP00000333667:Q33E;ENSP00000452315:Q33E;ENSP00000406881:Q12E;ENSP00000452419:Q12E;ENSP00000413770:Q12E	ENSP00000333667:Q33E	Q	+	1	0	SHMT2	55910916	0.139000	0.22563	1.000000	0.80357	0.972000	0.66771	0.472000	0.22116	2.668000	0.90789	0.655000	0.94253	CAG		0.582	SHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412525.2	NM_005412		G	57624649	C	G	57624649	3	3	771	1	0	0	0	0	1	0	0	0	14292	595	21	4	103	4	SHMT2	12	57624649	Missense_Mutation	SNP	C	TCGA-P4-A5E6-01A-11D-A28G-10		57624649	76227246	66	45505											
CCDC41	51134	hgsc.bcm.edu	37	12	94763803	94763804	+	Frame_Shift_Ins	INS	-	-	T			TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr12:94763803_94763804insT	ENST00000397809.5	-	9	1491_1492	c.942_943insA	c.(940-945)gaacttfs	p.L315fs	CCDC41_ENST00000547575.1_Frame_Shift_Ins_p.L315fs|CCDC41_ENST00000397807.2_Frame_Shift_Ins_p.L282fs|CCDC41_ENST00000339839.5_Frame_Shift_Ins_p.L315fs|CCDC41_ENST00000549352.1_5'UTR	NM_016122.2	NP_057206.2	Q9Y592	CEP83_HUMAN		307					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						GAATGTTTAAGTTCTTTTACCT	0.332																																																0																																										SO:0001589	frameshift_variant	51134																														ENST00000397809.5:c.943dupA	chr12.hg19:g.94763805_94763805dupT	ENSP00000380911:p.Leu315fs		A4FVB1|Q08AP1	Frame_Shift_Ins	INS	ENST00000397809.5	hg19	CCDS41820.1																																																																																				0.332	CCDC41-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408147.3			T	94763804	-	T	94763803	7	5	771	1	0	1	1	0	0	0	0	0	2815	1029	36	0	1198	0	CCDC41	12	94763803	Frame_Shift_Ins	INS	-	TCGA-P4-A5E6-01A-11D-A28G-10	37139154	94763803	39088092	67	45506											
C12orf24	29902	hgsc.bcm.edu	37	12	110906786	110906786	+	Missense_Mutation	SNP	C	C	T	rs202079205	byFrequency	TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr12:110906786C>T	ENST00000377673.5	+	1	618	c.106C>T	c.(106-108)Ccg>Tcg	p.P36S	GPN3_ENST00000228827.3_5'Flank|GPN3_ENST00000552180.1_5'UTR|GPN3_ENST00000537466.2_5'Flank|GPN3_ENST00000543199.1_5'Flank	NM_013300.2	NP_037432.2	Q8WUB2	F216A_HUMAN	family with sequence similarity 216, member A	36																	TTCTGCAGAGCCGCCCGCTGT	0.771													C|||	12	0.00239617	0.0091	0.0	5008	,	,		13111	0.0		0.0	False		,,,				2504	0.0															0								C	SER/PRO	24,3054		0,24,1515	2	2	2		106	3.3	0.1	12		2	0,6186		0,0,3093	yes	missense	C12orf24	NM_013300.2	74	0,24,4608	TT,TC,CC		0.0,0.7797,0.2591	probably-damaging	36/274	110906786	24,9240	1539	3093	4632	SO:0001583	missense	29902			U79274	CCDS31899.1	12q24.11	2012-02-07	2012-02-07	2012-02-07	ENSG00000204856	ENSG00000204856			30180	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 24"	C12orf24			Standard	NM_013300		Approved	HSU79274	uc001tqu.4	Q8WUB2	OTTHUMG00000169526	ENST00000377673.5:c.106C>T	chr12.hg19:g.110906786C>T	ENSP00000366901:p.Pro36Ser		A6NH30|Q99776	Missense_Mutation	SNP	ENST00000377673.5	hg19	CCDS31899.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.171608	0.78452	0.007797	0.0	ENSG00000204856	ENST00000377673;ENST00000538285	T	0.51071	0.72	4.16	3.27	0.37495	.	0.000000	0.39544	N	0.001336	T	0.32645	0.0836	L	0.56769	1.78	0.27811	N	0.942126	B;B	0.30709	0.291;0.129	B;B	0.26693	0.072;0.031	T	0.41645	-0.9497	10	0.87932	D	0	-0.6948	9.2806	0.37727	0.0:0.8974:0.0:0.1026	.	36;36	F5GZE4;Q8WUB2	.;CL024_HUMAN	S	36	ENSP00000366901:P36S	ENSP00000366901:P36S	P	+	1	0	C12orf24	109391169	0.943000	0.32029	0.132000	0.22025	0.895000	0.52256	2.944000	0.49034	1.096000	0.41439	0.462000	0.41574	CCG		0.771	FAM216A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404616.1	NM_013300		T	110906786	C	T	110906786	3	4	771	1	0	0	0	0	1	0	0	0	1680	739	26	2	108	2	C12orf24	12	110906786	Missense_Mutation	SNP	C	TCGA-P4-A5E6-01A-11D-A28G-10	16142983	110906786	22945109	68	45507											
CLYBL	171425	hgsc.bcm.edu	37	13	100258999	100258999	+	Missense_Mutation	SNP	C	C	T	rs200020595		TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr13:100258999C>T	ENST00000376360.1	+	1	77	c.50C>T	c.(49-51)gCg>gTg	p.A17V	CLYBL_ENST00000339105.4_Missense_Mutation_p.A17V|CLYBL_ENST00000376354.1_Missense_Mutation_p.A17V|CLYBL_ENST00000376355.3_Missense_Mutation_p.A17V|CLYBL_ENST00000444838.2_Missense_Mutation_p.A17V			Q8N0X4	CLYBL_HUMAN	citrate lyase beta like	17						mitochondrion (GO:0005739)	lyase activity (GO:0016829)|metal ion binding (GO:0046872)			NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GCGGCGGCGGCGCTGCTGAGG	0.776																																																0													6	8	7					13																	100258999		1843	3595	5438	SO:0001583	missense	171425			AF428253	CCDS32002.1	13q32.3	2011-04-08			ENSG00000125246	ENSG00000125246			18355	protein-coding gene	gene with protein product		609686					Standard	XM_005254030		Approved	CLB	uc001vok.3	Q8N0X4	OTTHUMG00000017278	ENST00000376360.1:c.50C>T	chr13.hg19:g.100258999C>T	ENSP00000365538:p.Ala17Val		Q5W0F7|Q8TDH8	Missense_Mutation	SNP	ENST00000376360.1	hg19	CCDS32002.1	.	.	.	.	.	.	.	.	.	.	C	11.61	1.689931	0.29962	.	.	ENSG00000125246	ENST00000376355;ENST00000376360;ENST00000444838;ENST00000376354;ENST00000339105	T;T;T;T;T	0.24350	1.86;1.88;1.86;1.86;1.88	3.41	1.64	0.23874	.	0.599921	0.15592	N	0.254333	T	0.10766	0.0263	N	0.08118	0	0.22552	N	0.998997	B;B;B	0.15719	0.014;0.01;0.003	B;B;B	0.10450	0.002;0.005;0.001	T	0.30357	-0.9981	10	0.23302	T	0.38	.	5.6733	0.17735	0.0:0.7452:0.0:0.2548	.	17;17;17	B4DU60;Q8N0X4-2;Q8N0X4	.;.;CLYBL_HUMAN	V	17	ENSP00000365533:A17V;ENSP00000365538:A17V;ENSP00000404768:A17V;ENSP00000365532:A17V;ENSP00000342991:A17V	ENSP00000342991:A17V	A	+	2	0	CLYBL	99057000	0.995000	0.38212	1.000000	0.80357	0.521000	0.34408	0.074000	0.14662	0.436000	0.26393	0.313000	0.20887	GCG		0.776	CLYBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045611.1			T	100258999	C	T	100258999	3	4	771	1	0	0	0	0	1	0	0	0	3575	768	27	1	52	1	CLYBL	13	100258999	Missense_Mutation	SNP	C	TCGA-P4-A5E6-01A-11D-A28G-10		100258999	14910879	69	45508											
LGALS3	3958	hgsc.bcm.edu	37	14	55604955	55604955	+	Missense_Mutation	SNP	C	C	T			TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr14:55604955C>T	ENST00000254301.9	+	3	472	c.211C>T	c.(211-213)Ccc>Tcc	p.P71S	LGALS3_ENST00000553755.1_3'UTR|LGALS3_ENST00000554715.1_Missense_Mutation_p.P71S	NM_002306.3	NP_002297.2	P17931	LEG3_HUMAN	lectin, galactoside-binding, soluble, 3	71	8 X 9 AA tandem repeats of Y-P-G-X(3)-P- G-A.				eosinophil chemotaxis (GO:0048245)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|mononuclear cell migration (GO:0071674)|mRNA processing (GO:0006397)|negative regulation of endocytosis (GO:0045806)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of immunological synapse formation (GO:2000521)|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 receptor signaling pathway (GO:0050860)|neutrophil chemotaxis (GO:0030593)|positive chemotaxis (GO:0050918)|positive regulation of calcium ion import (GO:0090280)|positive regulation of mononuclear cell migration (GO:0071677)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of T cell apoptotic process (GO:0070232)|regulation of T cell proliferation (GO:0042129)|RNA splicing (GO:0008380)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|spliceosomal complex (GO:0005681)	carbohydrate binding (GO:0030246)|chemoattractant activity (GO:0042056)|IgE binding (GO:0019863)|laminin binding (GO:0043236)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|prostate(1)	3						TGGAGCTTATCCCGGAGCACC	0.682																																																0													21	24	23					14																	55604955		1813	4069	5882	SO:0001583	missense	3958			M64303	CCDS41956.1	14q22.3	2014-03-19	2007-02-01		ENSG00000131981	ENSG00000131981		"Lectins, galactoside-binding", "Endogenous ligands"	6563	protein-coding gene	gene with protein product	"galectin 3"	153619		LGALS2		2009535, 8063692	Standard	NR_003225		Approved	MAC-2, GALIG	uc001xbr.3	P17931	OTTHUMG00000171030	ENST00000254301.9:c.211C>T	chr14.hg19:g.55604955C>T	ENSP00000254301:p.Pro71Ser		B2RC38|Q16005|Q6IBA7|Q96J47	Missense_Mutation	SNP	ENST00000254301.9	hg19	CCDS41956.1	.	.	.	.	.	.	.	.	.	.	C	7.633	0.679349	0.14907	.	.	ENSG00000131981	ENST00000553493;ENST00000254301;ENST00000554715	T;T;T	0.74315	-0.83;3.24;2.45	5.35	4.45	0.53987	.	0.209237	0.50627	N	0.000111	T	0.77751	0.4177	M	0.86178	2.8	0.45662	D	0.998582	B	0.11235	0.004	B	0.16722	0.016	T	0.73830	-0.3859	10	0.62326	D	0.03	.	14.3618	0.66776	0.0:0.921:0.0:0.079	.	71	P17931	LEG3_HUMAN	S	71	ENSP00000451526:P71S;ENSP00000254301:P71S;ENSP00000451381:P71S	ENSP00000254301:P71S	P	+	1	0	LGALS3	54674708	0.991000	0.36638	0.823000	0.32752	0.087000	0.18053	2.632000	0.46511	0.647000	0.30713	-0.797000	0.03246	CCC		0.682	LGALS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411309.1	NM_002306		T	55604955	C	T	55604955	3	4	771	1	0	0	0	0	1	0	0	0	8745	855	30	2	217	2	LGALS3	14	55604955	Missense_Mutation	SNP	C	TCGA-P4-A5E6-01A-11D-A28G-10		55604955	51744585	70	45509											
ZFYVE26	23503	hgsc.bcm.edu	37	14	68268851	68268851	+	Silent	SNP	G	G	T			TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr14:68268851G>T	ENST00000347230.4	-	10	1722	c.1584C>A	c.(1582-1584)ctC>ctA	p.L528L	ZFYVE26_ENST00000555452.1_Silent_p.L528L	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	528					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)		GGTCCTCAGAGAGGCTGTCTT	0.537																																																0													139	126	130					14																	68268851		2203	4300	6503	SO:0001819	synonymous_variant	23503			AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"Zinc fingers, FYVE domain containing"	20761	protein-coding gene	gene with protein product	"spastizin", "FYVE-CENT"	612012	"spastic paraplegia 15 (complicated, autosomal recessive)"	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.1584C>A	chr14.hg19:g.68268851G>T			B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Silent	SNP	ENST00000347230.4	hg19	CCDS9788.1																																																																																				0.537	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		T	68268851	G	T	68268851	2	4	771	1	0	0	0	0	0	0	0	1	17673	929	33	4		4	ZFYVE26	14	68268851	Silent	SNP	G	TCGA-P4-A5E6-01A-11D-A28G-10	12663896	68268851	39080689	71	45510											
GPR65	8477	hgsc.bcm.edu	37	14	88478074	88478074	+	Missense_Mutation	SNP	G	G	A			TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr14:88478074G>A	ENST00000267549.3	+	2	1441	c.883G>A	c.(883-885)Gaa>Aaa	p.E295K	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	295					actin cytoskeleton reorganization (GO:0031532)|activation of Rho GTPase activity (GO:0032862)|apoptotic process (GO:0006915)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of stress fiber assembly (GO:0051496)|response to acidic pH (GO:0010447)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						TTTTGTAACCGAAACAGGAAG	0.353																																																0													95	90	91					14																	88478074		2203	4300	6503	SO:0001583	missense	8477			U95218	CCDS9879.1	14q31-q32.1	2012-08-21			ENSG00000140030	ENSG00000140030		"GPCR / Class A : Orphans"	4517	protein-coding gene	gene with protein product		604620				9655242	Standard	NM_003608		Approved	hTDAG8, TDAG8	uc001xvv.3	Q8IYL9	OTTHUMG00000028648	ENST00000267549.3:c.883G>A	chr14.hg19:g.88478074G>A	ENSP00000267549:p.Glu295Lys		O75819	Missense_Mutation	SNP	ENST00000267549.3	hg19	CCDS9879.1	.	.	.	.	.	.	.	.	.	.	G	31	5.063367	0.93898	.	.	ENSG00000140030	ENST00000267549	T	0.30714	1.52	5.98	5.98	0.97165	.	0.000000	0.56097	D	0.000037	T	0.33556	0.0867	N	0.08118	0	0.44417	D	0.99733	D	0.71674	0.998	P	0.58820	0.846	T	0.20009	-1.0288	10	0.29301	T	0.29	.	20.4581	0.99154	0.0:0.0:1.0:0.0	.	295	Q8IYL9	PSYR_HUMAN	K	295	ENSP00000267549:E295K	ENSP00000267549:E295K	E	+	1	0	GPR65	87547827	1.000000	0.71417	0.654000	0.29608	0.919000	0.55068	6.201000	0.72124	2.835000	0.97688	0.650000	0.86243	GAA		0.353	GPR65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071564.4			A	88478074	G	A	88478074	3	1	771	1	0	0	0	0	1	0	0	0	6708	1059	37	1	885	1	GPR65	14	88478074	Missense_Mutation	SNP	G	TCGA-P4-A5E6-01A-11D-A28G-10	20209223	88478074	18871466	72	45511											
KIAA0284	283638	hgsc.bcm.edu	37	14	105350539	105350539	+	Missense_Mutation	SNP	C	C	T	rs373443985		TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	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_ENST00000418279.1_Missense_Mutation_p.R405W|CEP170B_ENST00000556508.1_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																																																0								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			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	chr14.hg19:g.105350539C>T	ENSP00000404151:p.Arg475Trp		Q2KHR7|Q86TI7	Missense_Mutation	SNP	ENST00000414716.3	hg19	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		T	105350539	C	T	105350539	3	4	771	1	0	0	0	0	1	0	0	0	8168	527	19	1	1453	1	KIAA0284	14	105350539	Missense_Mutation	SNP	C	TCGA-P4-A5E6-01A-11D-A28G-10	16872465	105350539	1999001	73	45512											
C15orf2	23742	hgsc.bcm.edu	37	15	24923447	24923447	+	Silent	SNP	T	T	A			TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr15:24923447T>A	ENST00000329468.2	+	1	2907	c.2433T>A	c.(2431-2433)tcT>tcA	p.S811S		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	811					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											GCAGTGCCTCTGCAGCATCGT	0.522																																																0													138	133	135					15																	24923447		2203	4300	6503	SO:0001819	synonymous_variant	23742			AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"chromosome 15 open reading frame 2"	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.2433T>A	chr15.hg19:g.24923447T>A				Silent	SNP	ENST00000329468.2	hg19	CCDS10015.1																																																																																				0.522	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		A	24923447	T	A	24923447	2	1	771	1	0	0	0	0	0	0	0	1	1786	1567	55	5		5	C15orf2	15	24923447	Silent	SNP	T	TCGA-P4-A5E6-01A-11D-A28G-10		24923447	77607945	74	45513											
OTUD7A	161725	hgsc.bcm.edu	37	15	31818596	31818596	+	Silent	SNP	G	G	A			TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr15:31818596G>A	ENST00000307050.4	-	6	920	c.828C>T	c.(826-828)agC>agT	p.S276S	OTUD7A_ENST00000382902.1_Silent_p.S283S	NM_130901.1	NP_570971.1	Q8TE49	OTU7A_HUMAN	OTU deubiquitinase 7A	276	Catalytic. {ECO:0000250}.|OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|TRAF-binding. {ECO:0000250}.				protein K11-linked deubiquitination (GO:0035871)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		TGCGCGGCTCGCTGGAGGCCA	0.677																																																0													37	34	35					15																	31818596		2202	4300	6502	SO:0001819	synonymous_variant	161725			AJ430383	CCDS10026.1	15q13.1	2014-02-24	2014-02-24	2006-07-07	ENSG00000169918	ENSG00000169918		"OTU domain containing"	20718	protein-coding gene	gene with protein product		612024	"chromosome 15 open reading frame 16", "OTU domain containing 7", "OTU domain containing 7A"	C15orf16, OTUD7		23827681	Standard	NM_130901		Approved	CEZANNE2	uc001zfq.3	Q8TE49	OTTHUMG00000129275	ENST00000307050.4:c.828C>T	chr15.hg19:g.31818596G>A			Q8IWK5	Silent	SNP	ENST00000307050.4	hg19	CCDS10026.1																																																																																				0.677	OTUD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251393.2	NM_130901		A	31818596	G	A	31818596	2	1	771	1	0	0	0	0	0	0	0	1	11320	1078	38	1		1	OTUD7A	15	31818596	Silent	SNP	G	TCGA-P4-A5E6-01A-11D-A28G-10	6895149	31818596	70712796	75	45514											
C15orf53	400359	hgsc.bcm.edu	37	15	38988831	38988831	+	Missense_Mutation	SNP	A	A	C			TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr15:38988831A>C	ENST00000318792.1	+	1	33	c.23A>C	c.(22-24)gAg>gCg	p.E8A		NM_207444.2	NP_997327.1	Q8NAA6	CO053_HUMAN	chromosome 15 open reading frame 53	8										endometrium(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	6		all_cancers(109;1.75e-13)|all_epithelial(112;1.02e-11)|Lung NSC(122;1.9e-09)|all_lung(180;4.04e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;8.39e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0321)		GGGGCCCAAGAGGACCTGGGC	0.562																																																0													96	91	93					15																	38988831		2200	4297	6497	SO:0001583	missense	400359				CCDS10048.1	15q14	2007-11-21			ENSG00000175779	ENSG00000175779			33796	protein-coding gene	gene with protein product							Standard	NM_207444		Approved	FLJ35695	uc001zkf.1	Q8NAA6	OTTHUMG00000129841	ENST00000318792.1:c.23A>C	chr15.hg19:g.38988831A>C	ENSP00000325144:p.Glu8Ala			Missense_Mutation	SNP	ENST00000318792.1	hg19	CCDS10048.1	.	.	.	.	.	.	.	.	.	.	A	9.365	1.069014	0.20147	.	.	ENSG00000175779	ENST00000318792	T	0.34667	1.35	3.31	-1.66	0.08265	.	.	.	.	.	T	0.23330	0.0564	N	0.08118	0	0.09310	N	1	D	0.54207	0.965	P	0.52554	0.702	T	0.12477	-1.0546	9	0.87932	D	0	.	3.0108	0.06044	0.4664:0.0:0.3378:0.1958	.	8	Q8NAA6	CO053_HUMAN	A	8	ENSP00000325144:E8A	ENSP00000325144:E8A	E	+	2	0	C15orf53	36776123	0.001000	0.12720	0.000000	0.03702	0.074000	0.17049	0.566000	0.23593	-0.349000	0.08274	-0.415000	0.06103	GAG		0.562	C15orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252081.1	NM_207444		C	38988831	A	C	38988831	3	2	771	1	0	0	0	0	1	0	0	0	1803	304	11	5	25	5	C15orf53	15	38988831	Missense_Mutation	SNP	A	TCGA-P4-A5E6-01A-11D-A28G-10	7170235	38988831	63542561	76	45515											
MYO5A	4644	hgsc.bcm.edu	37	15	52680095	52680096	+	Missense_Mutation	DNP	AC	AC	CA			TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	A|C	A|C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr15:52680095_52680096AC>CA	ENST00000399231.3	-	14	1925_1926	c.1682_1683GT>TG	c.(1681-1683)tGT>tTG	p.C561L	MYO5A_ENST00000356338.6_Missense_Mutation_p.C561L|MYO5A_ENST00000399233.2_Missense_Mutation_p.C561L|MYO5A_ENST00000358212.6_Missense_Mutation_p.C561L|MYO5A_ENST00000553916.1_Missense_Mutation_p.C561L	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	561	Myosin motor.				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)		GAAATCCTTCACACTGGTATTC	0.307																																																0																																										SO:0001583	missense	4644				CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"Myosins / Myosin superfamily : Class V"	7602	protein-coding gene	gene with protein product	"myosin, heavy polypeptide kinase", "myosin heavy chain 12", "myoxin", "myosin V"	160777	"myosin VA (heavy polypeptide 12, myoxin)"	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.1682_1683delinsCA	chr15.hg19:g.52680095_52680096delinsCA	ENSP00000382177:p.Cys561Leu		A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	ENST00000399231.3	hg19	CCDS42037.1																																																																																				0.307	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		CA	52680096	AC	CA	52680095	3	2	771	1	0	0	0	0	1	0	0	0	10080	157	6	5	3996	5	MYO5A	15	52680095	Missense_Mutation	DNP	AC	TCGA-P4-A5E6-01A-11D-A28G-10	13691264	52680095	49851297	77	45516											
WDR90	197335	hgsc.bcm.edu	37	16	707787	707787	+	Silent	SNP	C	C	T			TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr16:707787C>T	ENST00000293879.4	+	21	2499	c.2499C>T	c.(2497-2499)ccC>ccT	p.P833P	WDR90_ENST00000549091.1_Silent_p.P833P|LA16c-349E10.1_ENST00000573609.1_RNA			Q96KV7	WDR90_HUMAN	WD repeat domain 90	833										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CGGATGCCCCCGCGAGCCCCA	0.726																																																0													8	11	10					16																	707787		1929	4048	5977	SO:0001819	synonymous_variant	197335			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.2499C>T	chr16.hg19:g.707787C>T			Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Silent	SNP	ENST00000293879.4	hg19	CCDS42092.1																																																																																				0.726	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294		T	707787	C	T	707787	2	4	771	1	0	0	0	0	0	0	0	1	17342	639	23	1		1	WDR90	16	707787	Silent	SNP	C	TCGA-P4-A5E6-01A-11D-A28G-10		707787	89646966	78	45517											
VASN	114990	hgsc.bcm.edu	37	16	4432672	4432672	+	Silent	SNP	T	T	C	rs370088997	byFrequency	TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr16:4432672T>C	ENST00000304735.3	+	2	1949	c.1794T>C	c.(1792-1794)tgT>tgC	p.C598C	CORO7_ENST00000537233.2_Intron|CORO7_ENST00000423908.2_Intron|CORO7_ENST00000251166.4_Intron|CORO7_ENST00000539968.1_Intron|CORO7-PAM16_ENST00000572467.1_Intron|CORO7_ENST00000574025.1_Intron	NM_138440.2	NP_612449.2	Q6EMK4	VASN_HUMAN	vasorin	598					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						CAGCCTACTGTGTGCGGCGGG	0.741													T|||	5	0.000998403	0.0038	0.0	5008	,	,		13454	0.0		0.0	False		,,,				2504	0.0															0								T	,,,,	8,3802		0,8,1897	4	7	6		,,,,1794	-1.7	1	16		6	0,7642		0,0,3821	no	intron,intron,intron,intron,coding-synonymous	CORO7,VASN,CORO7-PAM16	NM_001201472.1,NM_001201473.1,NM_001201479.1,NM_024535.4,NM_138440.2	,,,,	0,8,5718	CC,CT,TT		0.0,0.21,0.0699	,,,,	,,,,598/674	4432672	8,11444	1905	3821	5726	SO:0001819	synonymous_variant	114990			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.1794T>C	chr16.hg19:g.4432672T>C			Q6UXL4|Q6UXL5|Q96CX1	Silent	SNP	ENST00000304735.3	hg19	CCDS10514.1																																																																																				0.741	VASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251632.1	NM_138440		C	4432672	T	C	4432672	2	2	771	1	0	0	0	0	0	0	0	1	17132	1702	59	3		3	VASN	16	4432672	Silent	SNP	T	TCGA-P4-A5E6-01A-11D-A28G-10	3724885	4432672	85922081	79	45518											
TNRC6A	27327	hgsc.bcm.edu	37	16	24788401	24788401	+	Missense_Mutation	SNP	C	C	A	rs112426081|rs575176088	byFrequency	TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr16:24788401C>A	ENST00000395799.3	+	5	440	c.311C>A	c.(310-312)cCg>cAg	p.P104Q	TNRC6A_ENST00000315183.7_Missense_Mutation_p.P104Q	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	104	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)		cagcagcagccgcagcagcag	0.587													C|||	5	0.000998403	0.0038	0.0	5008	,	,		10840	0.0		0.0	False		,,,				2504	0.0															0													17	25	22					16																	24788401		2009	4030	6039	SO:0001583	missense	27327			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.311C>A	chr16.hg19:g.24788401C>A	ENSP00000379144:p.Pro104Gln		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	ENST00000395799.3	hg19	CCDS10624.2	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.471905	0.00167	.	.	ENSG00000090905	ENST00000315183;ENST00000395799	T;T	0.10668	2.85;2.89	4.41	-2.9	0.05648	.	0.157308	0.30193	N	0.010181	T	0.03827	0.0108	N	0.08118	0	0.58432	D	0.999991	B	0.02656	0.0	B	0.01281	0.0	T	0.47711	-0.9096	10	0.12430	T	0.62	0.0105	8.8291	0.35074	0.3902:0.531:0.0787:0.0	.	104	Q8NDV7	TNR6A_HUMAN	Q	104	ENSP00000326900:P104Q;ENSP00000379144:P104Q	ENSP00000326900:P104Q	P	+	2	0	TNRC6A	24695902	0.031000	0.19500	0.019000	0.16419	0.020000	0.10135	-0.621000	0.05559	-0.679000	0.05217	-1.413000	0.01118	CCG		0.587	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		A	24788401	C	A	24788401	3	1	771	1	0	0	0	0	1	0	0	0	16345	652	23	4	329	4	TNRC6A	16	24788401	Missense_Mutation	SNP	C	TCGA-P4-A5E6-01A-11D-A28G-10	20355729	24788401	65566352	80	45519											
ITGAD	3681	hgsc.bcm.edu	37	16	31414951	31414951	+	Missense_Mutation	SNP	G	G	A			TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr16:31414951G>A	ENST00000389202.2	+	7	738	c.689G>A	c.(688-690)gGc>gAc	p.G230D	RP11-120K18.2_ENST00000567545.1_RNA	NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	230	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				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						ACGGCCACGGGCATCCTGACA	0.607																																																0													96	78	84					16																	31414951		2197	4300	6497	SO:0001583	missense	3681			U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"CD molecules", "Integrins"	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.689G>A	chr16.hg19:g.31414951G>A	ENSP00000373854:p.Gly230Asp		Q15575|Q15576	Missense_Mutation	SNP	ENST00000389202.2	hg19	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	G	19.35	3.810704	0.70797	.	.	ENSG00000156886	ENST00000316569;ENST00000444228;ENST00000389202	D	0.86030	-2.06	4.7	3.7	0.42460	von Willebrand factor, type A (3);	.	.	.	.	D	0.92492	0.7616	M	0.86864	2.845	0.34300	D	0.684244	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.996;0.996	D	0.94979	0.8124	9	0.87932	D	0	.	12.6978	0.57014	0.0:0.1801:0.8199:0.0	.	230;246;230	B7Z6V7;Q59H14;Q13349	.;.;ITAD_HUMAN	D	94;246;230	ENSP00000373854:G230D	ENSP00000323325:G94D	G	+	2	0	ITGAD	31322452	1.000000	0.71417	0.706000	0.30403	0.134000	0.20937	1.683000	0.37638	2.434000	0.82447	0.508000	0.49915	GGC		0.607	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		A	31414951	G	A	31414951	3	1	771	1	0	0	0	0	1	0	0	0	7886	1203	42	2	715	2	ITGAD	16	31414951	Missense_Mutation	SNP	G	TCGA-P4-A5E6-01A-11D-A28G-10	6626550	31414951	58939802	81	45520											
PHKB	5257	hgsc.bcm.edu	37	16	47622955	47622955	+	Missense_Mutation	SNP	G	G	A			TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr16:47622955G>A	ENST00000323584.5	+	10	1034	c.1010G>A	c.(1009-1011)gGg>gAg	p.G337E	PHKB_ENST00000455779.1_Missense_Mutation_p.G330E|PHKB_ENST00000566044.1_Missense_Mutation_p.G330E|PHKB_ENST00000299167.8_Missense_Mutation_p.G337E|PHKB_ENST00000567402.1_3'UTR	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	337					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|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)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				TTGAGAGATGGGTATAGAACA	0.353																																																0													70	74	73					16																	47622955		2201	4300	6501	SO:0001583	missense	5257				CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	2.7.11.19		8927	protein-coding gene	gene with protein product		172490					Standard	NM_000293		Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000323584.5:c.1010G>A	chr16.hg19:g.47622955G>A	ENSP00000313504:p.Gly337Glu		Q8N4T5	Missense_Mutation	SNP	ENST00000323584.5	hg19	CCDS10729.1	.	.	.	.	.	.	.	.	.	.	G	31	5.099043	0.94197	.	.	ENSG00000102893	ENST00000299167;ENST00000455779;ENST00000323584	D;D	0.91792	-2.91;-2.91	5.83	5.83	0.93111	Six-hairpin glycosidase-like (1);Glycoside hydrolase 15-related (1);	0.000000	0.85682	D	0.000000	D	0.97232	0.9095	M	0.92923	3.36	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.79108	0.992;0.918	D	0.97532	1.0080	10	0.87932	D	0	-10.5585	20.127	0.97984	0.0:0.0:1.0:0.0	.	337;330	Q93100;Q93100-4	KPBB_HUMAN;.	E	330;330;337	ENSP00000414345:G330E;ENSP00000313504:G337E	ENSP00000299167:G330E	G	+	2	0	PHKB	46180456	1.000000	0.71417	0.964000	0.40570	0.946000	0.59487	9.717000	0.98755	2.775000	0.95449	0.585000	0.79938	GGG		0.353	PHKB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000430413.1			A	47622955	G	A	47622955	3	1	771	1	0	0	0	0	1	0	0	0	11847	1232	43	2	1107	2	PHKB	16	47622955	Missense_Mutation	SNP	G	TCGA-P4-A5E6-01A-11D-A28G-10	16208004	47622955	42731798	82	45521											
DBNDD1	79007	hgsc.bcm.edu	37	16	90075270	90075270	+	Missense_Mutation	SNP	T	T	A			TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr16:90075270T>A	ENST00000002501.6	-	3	372	c.241A>T	c.(241-243)Acc>Tcc	p.T81S	DBNDD1_ENST00000568838.1_Missense_Mutation_p.T201S|DBNDD1_ENST00000392973.3_Missense_Mutation_p.T87S|DBNDD1_ENST00000304733.3_Missense_Mutation_p.T101S	NM_001042610.1	NP_001036075.1	Q9H9R9	DBND1_HUMAN	dysbindin (dystrobrevin binding protein 1) domain containing 1	81						cytoplasm (GO:0005737)				kidney(1)|large_intestine(1)|lung(1)	3		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;0.0275)		GACATGTCGGTGAGCTCAGTG	0.642																																																0													32	37	35					16																	90075270		2016	4160	6176	SO:0001583	missense	79007			AK090696	CCDS10991.2, CCDS42223.1, CCDS73931.1	16q24.3	2008-02-05			ENSG00000003249	ENSG00000003249			28455	protein-coding gene	gene with protein product						12477932	Standard	NM_001288708		Approved	MGC3101, FLJ12582	uc002fqe.1	Q9H9R9	OTTHUMG00000138984	ENST00000002501.6:c.241A>T	chr16.hg19:g.90075270T>A	ENSP00000002501:p.Thr81Ser		B4DQS3|Q69YT2|Q9BW25	Missense_Mutation	SNP	ENST00000002501.6	hg19	CCDS42223.1	.	.	.	.	.	.	.	.	.	.	T	17.81	3.480743	0.63849	.	.	ENSG00000003249	ENST00000304733;ENST00000002501;ENST00000392973	T;T	0.34072	1.38;1.38	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.61274	0.2334	M	0.78637	2.42	0.49299	D	0.999773	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.994	T	0.64415	-0.6413	9	.	.	.	-34.7701	15.1222	0.72453	0.0:0.0:0.0:1.0	.	81;101	Q9H9R9;Q9H9R9-2	DBND1_HUMAN;.	S	101;81;201	ENSP00000306407:T101S;ENSP00000002501:T81S	.	T	-	1	0	DBNDD1	88602771	1.000000	0.71417	0.992000	0.48379	0.282000	0.26991	5.761000	0.68801	1.992000	0.58205	0.260000	0.18958	ACC		0.642	DBNDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272872.1	NM_024043		A	90075270	T	A	90075270	3	1	771	1	0	0	0	0	1	0	0	0	4255	1696	59	5	243	5	DBNDD1	16	90075270	Missense_Mutation	SNP	T	TCGA-P4-A5E6-01A-11D-A28G-10	42452315	90075270	279483	83	45522											
ZNF594	84622	hgsc.bcm.edu	37	17	5086862	5086862	+	Missense_Mutation	SNP	C	C	G			TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr17:5086862C>G	ENST00000399604.4	-	1	830	c.690G>C	c.(688-690)caG>caC	p.Q230H	ZNF594_ENST00000575779.1_Missense_Mutation_p.Q230H			Q96JF6	ZN594_HUMAN	zinc finger protein 594	230					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.Q230H(1)		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						TGTGGATTCTCTGGTGCAGGA	0.438																																																1	Substitution - Missense(1)	cervix(1)											104	107	106					17																	5086862		2051	4221	6272	SO:0001583	missense	84622			AB058774	CCDS42241.1	17p13	2013-01-08			ENSG00000180626	ENSG00000180626		"Zinc fingers, C2H2-type"	29392	protein-coding gene	gene with protein product						11347906	Standard	NM_032530		Approved	KIAA1871	uc010cla.1	Q96JF6	OTTHUMG00000132059	ENST00000399604.4:c.690G>C	chr17.hg19:g.5086862C>G	ENSP00000382513:p.Gln230His		Q6RFS0	Missense_Mutation	SNP	ENST00000399604.4	hg19	CCDS42241.1	.	.	.	.	.	.	.	.	.	.	C	3.775	-0.046880	0.07407	.	.	ENSG00000180626	ENST00000399604	T	0.18502	2.21	2.36	1.36	0.22044	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22859	0.0552	L	0.48986	1.54	0.20638	N	0.99988	D	0.57899	0.981	P	0.53035	0.716	T	0.08186	-1.0734	9	0.52906	T	0.07	.	6.6334	0.22869	0.0:0.8341:0.0:0.1659	.	230	Q96JF6	ZN594_HUMAN	H	230	ENSP00000382513:Q230H	ENSP00000382513:Q230H	Q	-	3	2	ZNF594	5027586	0.000000	0.05858	0.612000	0.29024	0.229000	0.25112	-0.361000	0.07612	1.314000	0.45095	0.462000	0.41574	CAG		0.438	ZNF594-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438996.1	XM_290737		G	5086862	C	G	5086862	3	3	771	1	0	0	0	0	1	0	0	0	18029	912	32	4	1737	4	ZNF594	17	5086862	Missense_Mutation	SNP	C	TCGA-P4-A5E6-01A-11D-A28G-10		5086862	76108348	84	45523											
KIAA0100	9703	hgsc.bcm.edu	37	17	26971163	26971163	+	Missense_Mutation	SNP	C	C	A			TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr17:26971163C>A	ENST00000528896.2	-	2	185	c.111G>T	c.(109-111)aaG>aaT	p.K37N	KIAA0100_ENST00000389003.3_5'UTR|KIAA0100_ENST00000544884.1_5'UTR	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	37						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CCGCCTGCAGCTTCCGCTGAC	0.488											OREG0024280	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													59	69	65					17																	26971163		2203	4300	6503	SO:0001583	missense	9703			D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"cancer/testis antigen 101", "breast cancer overexpressed gene 1"	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.111G>T	chr17.hg19:g.26971163C>A	ENSP00000436773:p.Lys37Asn	790	A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	hg19	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.673269	0.29693	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896	T	0.26373	1.74	5.18	4.2	0.49525	FMP27, N-terminal (1);	0.354102	0.32719	N	0.005740	T	0.19127	0.0459	L	0.27053	0.805	0.80722	D	1	B;B	0.15141	0.012;0.0	B;B	0.12156	0.007;0.002	T	0.03619	-1.1019	10	0.62326	D	0.03	.	11.8337	0.52309	0.1379:0.7294:0.1327:0.0	.	37;37	F6XS94;Q14667	.;K0100_HUMAN	N	37	ENSP00000436773:K37N	ENSP00000005905:K37N	K	-	3	2	KIAA0100	23995290	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.047000	0.30367	1.295000	0.44724	-0.310000	0.09108	AAG		0.488	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		A	26971163	C	A	26971163	3	1	771	1	0	0	0	0	1	0	0	0	8156	796	28	4	6748	4	KIAA0100	17	26971163	Missense_Mutation	SNP	C	TCGA-P4-A5E6-01A-11D-A28G-10	21884301	26971163	54224047	85	45524											
NUFIP2	57532	hgsc.bcm.edu	37	17	27614566	27614566	+	Missense_Mutation	SNP	A	A	G			TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr17:27614566A>G	ENST00000225388.4	-	2	504	c.446T>C	c.(445-447)aTt>aCt	p.I149T	NUFIP2_ENST00000579665.1_Intron	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	149						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			CTTGGTTTTAATTCCTGCTTT	0.408																																																0													121	120	121					17																	27614566		2203	4300	6503	SO:0001583	missense	57532			AB037742	CCDS32600.1	17q11.1	2006-03-01				ENSG00000108256			17634	protein-coding gene	gene with protein product		609356				12837692, 16407062	Standard	NM_020772		Approved	KIAA1321, MGC117262, PIG1, 182-FIP, FIP-82, 82-FIP	uc002hdy.4	Q7Z417		ENST00000225388.4:c.446T>C	chr17.hg19:g.27614566A>G	ENSP00000225388:p.Ile149Thr		A1L3A6|Q9P2M5	Missense_Mutation	SNP	ENST00000225388.4	hg19	CCDS32600.1	.	.	.	.	.	.	.	.	.	.	A	12.71	2.020017	0.35606	.	.	ENSG00000108256	ENST00000225388	.	.	.	6.17	6.17	0.99709	.	0.134082	0.52532	D	0.000080	T	0.41328	0.1154	N	0.12182	0.205	0.80722	D	1	B	0.24721	0.11	B	0.25291	0.059	T	0.37384	-0.9708	9	0.56958	D	0.05	-12.34	12.6398	0.56702	0.8623:0.1377:0.0:0.0	.	149	Q7Z417	NUFP2_HUMAN	T	149	.	ENSP00000225388:I149T	I	-	2	0	NUFIP2	24638692	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.852000	0.55934	2.371000	0.80710	0.533000	0.62120	ATT		0.408	NUFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447015.2	NM_020772		G	27614566	A	G	27614566	3	3	771	1	0	0	0	0	1	0	0	0	10751	101	4	3	1653	3	NUFIP2	17	27614566	Missense_Mutation	SNP	A	TCGA-P4-A5E6-01A-11D-A28G-10	643403	27614566	53580644	86	45525											
KLHL11	55175	hgsc.bcm.edu	37	17	40011371	40011371	+	Missense_Mutation	SNP	T	T	C			TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr17:40011371T>C	ENST00000319121.3	-	2	808	c.748A>G	c.(748-750)Aga>Gga	p.R250G		NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	250	BACK.									NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				AGCCAGTCTCTAATGAGATGG	0.398																																																0													57	58	58					17																	40011371		2203	4300	6503	SO:0001583	missense	55175				CCDS11411.1	17q21	2013-01-30	2013-01-30		ENSG00000178502	ENSG00000178502		"Kelch-like", "BTB/POZ domain containing"	19008	protein-coding gene	gene with protein product			"kelch-like 11 (Drosophila)"				Standard	NM_018143		Approved	FLJ10572	uc002hyf.1	Q9NVR0	OTTHUMG00000133506	ENST00000319121.3:c.748A>G	chr17.hg19:g.40011371T>C	ENSP00000314608:p.Arg250Gly			Missense_Mutation	SNP	ENST00000319121.3	hg19	CCDS11411.1	.	.	.	.	.	.	.	.	.	.	T	6.149	0.395748	0.11638	.	.	ENSG00000178502	ENST00000319121;ENST00000540254	T	0.69040	-0.37	4.99	4.01	0.46588	BTB/Kelch-associated (2);	0.068566	0.56097	D	0.000034	T	0.48892	0.1525	N	0.20986	0.625	0.50313	D	0.999866	P	0.46142	0.873	B	0.38264	0.269	T	0.41215	-0.9521	10	0.21540	T	0.41	-2.2119	13.3418	0.60549	0.0:0.0:0.5227:0.4773	.	250	Q9NVR0	KLH11_HUMAN	G	250;113	ENSP00000314608:R250G	ENSP00000314608:R250G	R	-	1	2	KLHL11	37264897	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.686000	0.37669	1.055000	0.40461	-0.452000	0.05504	AGA		0.398	KLHL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257464.2	NM_018143		C	40011371	T	C	40011371	3	2	771	1	0	0	0	0	1	0	0	0	8369	1530	53	3	1382	3	KLHL11	17	40011371	Missense_Mutation	SNP	T	TCGA-P4-A5E6-01A-11D-A28G-10	12396805	40011371	41183839	87	45526											
KAT2A	2648	hgsc.bcm.edu	37	17	40269761	40269761	+	Missense_Mutation	SNP	G	G	C			TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr17:40269761G>C	ENST00000225916.5	-	9	1416	c.1363C>G	c.(1363-1365)Ccc>Gcc	p.P455A		NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	455					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						AGCTCCATGGGGATGTCACCC	0.627																																																0													43	36	39					17																	40269761		2203	4300	6503	SO:0001583	missense	2648			AF029777	CCDS11417.1	17q12-q21	2011-07-01	2008-07-04	2008-07-04	ENSG00000108773	ENSG00000108773		"Chromatin-modifying enzymes / K-acetyltransferases"	4201	protein-coding gene	gene with protein product		602301	"GCN5 general control of amino-acid synthesis 5-like 2 (yeast)"	GCN5L2		8552087	Standard	NM_021078		Approved	GCN5, PCAF-b	uc002hyx.2	Q92830	OTTHUMG00000133504	ENST00000225916.5:c.1363C>G	chr17.hg19:g.40269761G>C	ENSP00000225916:p.Pro455Ala		Q8N1A2|Q9UCW1	Missense_Mutation	SNP	ENST00000225916.5	hg19	CCDS11417.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.470462	0.84533	.	.	ENSG00000108773	ENST00000225916	T	0.08634	3.07	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.31979	0.0814	M	0.84683	2.71	0.80722	D	1	D	0.61080	0.989	D	0.63192	0.912	T	0.28744	-1.0034	10	0.72032	D	0.01	-17.8967	17.6406	0.88135	0.0:0.0:1.0:0.0	.	455	Q92830	KAT2A_HUMAN	A	455	ENSP00000225916:P455A	ENSP00000225916:P455A	P	-	1	0	KAT2A	37523287	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.811000	0.99226	2.164000	0.68074	0.561000	0.74099	CCC		0.627	KAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257458.1	NM_021078		C	40269761	G	C	40269761	3	2	771	1	0	0	0	0	1	0	0	0	7983	1232	43	4	1190	4	KAT2A	17	40269761	Missense_Mutation	SNP	G	TCGA-P4-A5E6-01A-11D-A28G-10	258390	40269761	40925449	88	45527											
MYST2	11143	hgsc.bcm.edu	37	17	47869395	47869395	+	Splice_Site	SNP	G	G	A			TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr17:47869395G>A	ENST00000259021.4	+	2	443	c.163G>A	c.(163-165)Gat>Aat	p.D55N	KAT7_ENST00000503935.2_5'UTR|KAT7_ENST00000454930.2_Splice_Site_p.G55R|KAT7_ENST00000510819.1_Splice_Site_p.G55R|KAT7_ENST00000424009.2_Splice_Site_p.D55N|KAT7_ENST00000435742.2_5'UTR|KAT7_ENST00000509773.1_Splice_Site_p.D55N	NM_007067.4	NP_008998.1	O95251	KAT7_HUMAN	K(lysine) acetyltransferase 7	55	Ser-rich.				chromatin organization (GO:0006325)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|histone H4-K12 acetylation (GO:0043983)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										GAGTTCTCAAGGTAAAAAAAC	0.493																																																0													72	69	70					17																	47869395		2203	4300	6503	SO:0001630	splice_region_variant	11143			AF074606	CCDS11554.1, CCDS56035.1, CCDS56036.1, CCDS56037.1, CCDS56038.1	17q21.32	2013-01-10	2011-07-21	2011-07-21	ENSG00000136504	ENSG00000136504	2.3.1.48	"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing"	17016	protein-coding gene	gene with protein product	"histone acetyltransferase binding to ORC1"	609880	"MYST histone acetyltransferase 2"	MYST2		10438470, 10930412	Standard	NM_001199155		Approved	HBOA, HBO1, ZC2HC7	uc002ipm.3	O95251	OTTHUMG00000161770	ENST00000259021.4:c.163+1G>A	chr17.hg19:g.47869395G>A			B3KN74|B4DF85|B4DFB4|B4DFE0|B4DGY4|E7ER15|G5E9K7	Missense_Mutation	SNP	ENST00000259021.4	hg19	CCDS11554.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.224482|5.224482	0.95139|0.95139	.|.	.|.	ENSG00000136504|ENSG00000136504	ENST00000259021;ENST00000509773;ENST00000424009|ENST00000454930;ENST00000510819	.|.	.|.	.|.	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	0.153798|.	0.56097|.	D|.	0.000026|.	T|T	0.76385|0.76385	0.3980|0.3980	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	D;B;D|D;D	0.60575|0.89917	0.98;0.281;0.988|1.0;1.0	D;B;D|D;D	0.73708|0.97110	0.956;0.083;0.981|1.0;1.0	T|T	0.77747|0.77747	-0.2472|-0.2472	9|8	0.09843|0.87932	T|D	0.71|0	-15.7574|-15.7574	19.1747|19.1747	0.93599|0.93599	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	55;55;55|55;55	B4DFB4;O95251;G5E9K7|B4DFE0;E7ER15	.;KAT7_HUMAN;.|.;.	N|R	55|55	.|.	ENSP00000259021:D55N|ENSP00000413415:G55R	D|G	+|+	1|1	0|0	KAT7|KAT7	45224394|45224394	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	9.448000|9.448000	0.97600|0.97600	2.623000|2.623000	0.88846|0.88846	0.650000|0.650000	0.86243|0.86243	GAT|GGA		0.493	KAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366032.1	NM_007067	Missense_Mutation	A	47869395	G	A	47869395	5	1	771	1	0	0	0	0	0	0	1	0	10105	1014	35	2	169	2	MYST2	17	47869395	Splice_Site	SNP	G	TCGA-P4-A5E6-01A-11D-A28G-10	7599634	47869395	33325815	89	45528											
FAM59A	64762	hgsc.bcm.edu	37	18	29867165	29867165	+	Frame_Shift_Del	DEL	A	A	-			TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr18:29867165delA	ENST00000269209.6	-	4	1398	c.1395delT	c.(1393-1395)catfs	p.H465fs	GAREM_ENST00000399218.4_Frame_Shift_Del_p.H465fs|GAREM_ENST00000578619.1_5'Flank|RP11-344B2.2_ENST00000579580.1_RNA			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	465					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)										TGAGAGGCTGATGGCTGGGCT	0.527																																																0													104	102	103					18																	29867165		2203	4300	6503	SO:0001589	frameshift_variant	64762			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.1395delT	chr18.hg19:g.29867165delA	ENSP00000269209:p.His465fs		Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Frame_Shift_Del	DEL	ENST00000269209.6	hg19	CCDS56057.1																																																																																				0.527	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255365.1	NM_022751		-	29867165	A	-	29867165	7	5	771	1	0	1	0	1	0	0	0	0	5594	330	12	0	1244	0	FAM59A	18	29867165	Frame_Shift_Del	DEL	A	TCGA-P4-A5E6-01A-11D-A28G-10		29867165	48210083	90	45529											
CELF5	60680	hgsc.bcm.edu	37	19	3285978	3285978	+	Missense_Mutation	SNP	A	A	T			TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr19:3285978A>T	ENST00000292672.2	+	10	1178	c.1141A>T	c.(1141-1143)Agc>Tgc	p.S381C	CELF5_ENST00000588101.1_3'UTR|CELF5_ENST00000541430.2_Missense_Mutation_p.S356C	NM_021938.3	NP_068757.2	Q8N6W0	CELF5_HUMAN	CUGBP, Elav-like family member 5	381					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						CATCGCGCACAGCGTCCCCCA	0.756																																																0													12	12	12					19																	3285978		2081	4145	6226	SO:0001583	missense	60680			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.1141A>T	chr19.hg19:g.3285978A>T	ENSP00000292672:p.Ser381Cys		D6W614|O75253|Q59GP2|Q86VW6|Q9BZC0|Q9NR86	Missense_Mutation	SNP	ENST00000292672.2	hg19	CCDS12106.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.488587	0.84854	.	.	ENSG00000161082	ENST00000292672;ENST00000541430;ENST00000334293	T;T;T	0.51071	0.72;1.66;1.56	4.15	4.15	0.48705	.	0.325407	0.28841	N	0.013971	T	0.53867	0.1823	L	0.36672	1.1	0.37559	D	0.919007	D;D;P	0.76494	0.985;0.999;0.944	P;D;P	0.63192	0.731;0.912;0.662	T	0.61451	-0.7060	10	0.62326	D	0.03	-4.5717	11.4083	0.49911	1.0:0.0:0.0:0.0	.	267;356;381	B4DFI3;Q8N6W0-2;Q8N6W0	.;.;CELF5_HUMAN	C	381;356;267	ENSP00000292672:S381C;ENSP00000443498:S356C;ENSP00000335182:S267C	ENSP00000292672:S381C	S	+	1	0	CELF5	3236978	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.948000	0.49066	1.666000	0.50821	0.402000	0.26972	AGC		0.756	CELF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452574.1	NM_021938		T	3285978	A	T	3285978	3	4	771	1	0	0	0	0	1	0	0	0	3221	188	7	5	1179	5	CELF5	19	3285978	Missense_Mutation	SNP	A	TCGA-P4-A5E6-01A-11D-A28G-10		3285978	55843005	91	45530											
ATP13A1	57130	hgsc.bcm.edu	37	19	19758062	19758062	+	Missense_Mutation	SNP	T	T	C			TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr19:19758062T>C	ENST00000357324.6	-	22	3007	c.2981A>G	c.(2980-2982)aAt>aGt	p.N994S	ATP13A1_ENST00000291503.5_Missense_Mutation_p.N876S	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	994						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						GATGAGGGCATTGAGCGCCAG	0.632																																					Esophageal Squamous(142;920 1789 9047 14684 24777)											0													108	109	109					19																	19758062		2203	4300	6503	SO:0001583	missense	57130			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.2981A>G	chr19.hg19:g.19758062T>C	ENSP00000349877:p.Asn994Ser		B3KPJ2|B3KTA7|Q6NT90|Q6ZMG7|Q9H6C6	Missense_Mutation	SNP	ENST00000357324.6	hg19	CCDS32970.2	.	.	.	.	.	.	.	.	.	.	T	22.3	4.274546	0.80580	.	.	ENSG00000105726	ENST00000291503;ENST00000357324	D;D	0.88354	-2.37;-2.37	4.75	4.75	0.60458	.	0.000000	0.85682	D	0.000000	D	0.91784	0.7401	M	0.75264	2.295	0.80722	D	1	D;D	0.59357	0.974;0.985	P;P	0.61592	0.78;0.891	D	0.89608	0.3839	10	0.11794	T	0.64	-19.537	12.2865	0.54795	0.0:0.0:0.0:1.0	.	994;876	Q9HD20;Q9HD20-2	AT131_HUMAN;.	S	876;994	ENSP00000291503:N876S;ENSP00000349877:N994S	ENSP00000291503:N876S	N	-	2	0	ATP13A1	19619062	1.000000	0.71417	0.855000	0.33649	0.995000	0.86356	7.576000	0.82467	1.789000	0.52484	0.529000	0.55759	AAT		0.632	ATP13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329005.1	NM_020410		C	19758062	T	C	19758062	3	2	771	1	0	0	0	0	1	0	0	0	1123	1493	52	3	653	3	ATP13A1	19	19758062	Missense_Mutation	SNP	T	TCGA-P4-A5E6-01A-11D-A28G-10	16472084	19758062	39370921	92	45531											
GRAMD1A	57655	hgsc.bcm.edu	37	19	35506763	35506763	+	Missense_Mutation	SNP	C	C	T			TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr19:35506763C>T	ENST00000317991.5	+	11	1297	c.1105C>T	c.(1105-1107)Cgc>Tgc	p.R369C	GRAMD1A_ENST00000411896.2_Missense_Mutation_p.R362C|GRAMD1A_ENST00000599564.1_Missense_Mutation_p.R456C|GRAMD1A_ENST00000504615.2_Missense_Mutation_p.R135C|CTD-2527I21.14_ENST00000605640.1_RNA	NM_020895.3	NP_065946.2	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	369						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)			CCTCTCCGGCCGCCTCCTCAT	0.642																																																0													39	44	42					19																	35506763		2115	4223	6338	SO:0001583	missense	57655			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.1105C>T	chr19.hg19:g.35506763C>T	ENSP00000441032:p.Arg369Cys		A6NKY7|Q8NC77|Q9P1Z5	Missense_Mutation	SNP	ENST00000317991.5	hg19	CCDS42546.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.127959	0.77549	.	.	ENSG00000089351	ENST00000453966;ENST00000504615;ENST00000317991;ENST00000411896	T;T;T	0.60548	0.18;1.34;1.3	5.01	5.01	0.66863	.	0.067735	0.64402	D	0.000013	T	0.75398	0.3844	M	0.82323	2.585	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.80764	0.96;0.994;0.917;0.975	T	0.78443	-0.2202	10	0.87932	D	0	.	10.8825	0.46946	0.1875:0.8125:0.0:0.0	.	369;369;135;362	Q96CP6-3;Q96CP6;B3KQF7;Q96CP6-2	.;GRM1A_HUMAN;.;.	C	455;135;369;362	ENSP00000423728:R135C;ENSP00000441032:R369C;ENSP00000439267:R362C	ENSP00000441032:R369C	R	+	1	0	GRAMD1A	40198603	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	3.193000	0.50997	2.615000	0.88500	0.555000	0.69702	CGC		0.642	GRAMD1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461557.1	NM_020895		T	35506763	C	T	35506763	3	4	771	1	0	0	0	0	1	0	0	0	6749	652	23	1	1147	1	GRAMD1A	19	35506763	Missense_Mutation	SNP	C	TCGA-P4-A5E6-01A-11D-A28G-10	15748701	35506763	23622220	93	45532											
RSPH6A	81492	hgsc.bcm.edu	37	19	46305454	46305454	+	Missense_Mutation	SNP	C	C	G			TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr19:46305454C>G	ENST00000221538.3	-	4	1864	c.1722G>C	c.(1720-1722)gaG>gaC	p.E574D	RSPH6A_ENST00000597055.1_Missense_Mutation_p.E574D|RSPH6A_ENST00000600188.1_Missense_Mutation_p.E310D	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	574	Glu-rich.					intracellular (GO:0005622)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						catctgccttctcttcctcct	0.622																																																0													111	73	86					19																	46305454		2203	4300	6503	SO:0001583	missense	81492			AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"radial spokehead-like 1"	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.1722G>C	chr19.hg19:g.46305454C>G	ENSP00000221538:p.Glu574Asp		Q53FE2|Q6PEZ9	Missense_Mutation	SNP	ENST00000221538.3	hg19	CCDS12675.1	.	.	.	.	.	.	.	.	.	.	C	11.81	1.748680	0.30955	.	.	ENSG00000104941	ENST00000221538	T	0.19806	2.12	4.27	2.08	0.27032	.	0.108659	0.64402	D	0.000011	T	0.15912	0.0383	L	0.48986	1.54	0.27895	N	0.939171	P	0.41978	0.767	B	0.38985	0.287	T	0.08827	-1.0703	10	0.26408	T	0.33	-9.2878	6.3085	0.21151	0.0:0.764:0.0:0.236	.	574	Q9H0K4	RSH6A_HUMAN	D	574	ENSP00000221538:E574D	ENSP00000221538:E574D	E	-	3	2	RSPH6A	50997294	0.980000	0.34600	1.000000	0.80357	0.407000	0.30961	0.054000	0.14205	0.710000	0.31997	-0.390000	0.06520	GAG		0.622	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461657.1			G	46305454	C	G	46305454	3	3	771	1	0	0	0	0	1	0	0	0	13713	912	32	4	443	4	RSPH6A	19	46305454	Missense_Mutation	SNP	C	TCGA-P4-A5E6-01A-11D-A28G-10	10798691	46305454	12823529	94	45533											
GLTSCR1	29998	hgsc.bcm.edu	37	19	48183987	48183987	+	Silent	SNP	G	G	T	rs377326337		TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr19:48183987G>T	ENST00000396720.3	+	6	1754	c.1560G>T	c.(1558-1560)ctG>ctT	p.L520L	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	520										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)		ACCAGAACCTGGCGGGCCCAC	0.726																																																0													26	32	30					19																	48183987		1884	4062	5946	SO:0001819	synonymous_variant	29998			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.1560G>T	chr19.hg19:g.48183987G>T			A8MW01	Silent	SNP	ENST00000396720.3	hg19	CCDS46134.1																																																																																				0.726	GLTSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465846.1	NM_015711		T	48183987	G	T	48183987	2	4	771	1	0	0	0	0	0	0	0	1	6476	1335	47	4		4	GLTSCR1	19	48183987	Silent	SNP	G	TCGA-P4-A5E6-01A-11D-A28G-10	1878533	48183987	10944996	95	45534											
ZBTB46	140685	hgsc.bcm.edu	37	20	62378613	62378613	+	Missense_Mutation	SNP	G	G	T			TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr20:62378613G>T	ENST00000245663.4	-	5	1590	c.1440C>A	c.(1438-1440)agC>agA	p.S480R	ZBTB46_ENST00000302995.2_Missense_Mutation_p.S480R|ZBTB46_ENST00000395104.1_Missense_Mutation_p.S480R|RP4-583P15.10_ENST00000447343.2_RNA|RP4-583P15.10_ENST00000433905.2_RNA	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	480					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)					TGAAGACGCGGCTGCACACCT	0.701																																																0													9	7	8					20																	62378613		2124	4163	6287	SO:0001583	missense	140685			AK131482	CCDS13538.1	20q13.33	2013-01-08	2006-09-19	2006-09-19	ENSG00000130584	ENSG00000130584		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	16094	protein-coding gene	gene with protein product	"BTB-ZF protein expressed in effector lymphocytes"	614639	"BTB (POZ) domain containing 4"	ZNF340, BTBD4			Standard	NM_025224		Approved	FLJ13502, RINZF, BZEL	uc002ygv.2	Q86UZ6	OTTHUMG00000033001	ENST00000245663.4:c.1440C>A	chr20.hg19:g.62378613G>T	ENSP00000245663:p.Ser480Arg		E1P5K9|Q5JWJ3|Q6GMV4|Q9BQK3|Q9H3Z8|Q9H3Z9	Missense_Mutation	SNP	ENST00000245663.4	hg19	CCDS13538.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.585999	0.46110	.	.	ENSG00000130584	ENST00000245663;ENST00000302995;ENST00000395104	T;T;T	0.15487	2.42;2.42;2.42	4.29	3.16	0.36331	Zinc finger, C2H2-like (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.174840	0.48767	D	0.000179	T	0.11793	0.0287	L	0.28504	0.86	0.46336	D	0.998998	P	0.38048	0.616	B	0.35278	0.199	T	0.09509	-1.0671	10	0.39692	T	0.17	.	10.1961	0.43056	0.1118:0.0:0.8882:0.0	.	480	Q86UZ6	ZBT46_HUMAN	R	480	ENSP00000245663:S480R;ENSP00000303102:S480R;ENSP00000378536:S480R	ENSP00000245663:S480R	S	-	3	2	ZBTB46	61849057	1.000000	0.71417	0.991000	0.47740	0.822000	0.46500	2.148000	0.42235	0.504000	0.28082	0.462000	0.41574	AGC		0.701	ZBTB46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080232.2	NM_025224		T	62378613	G	T	62378613	3	4	771	1	0	0	0	0	1	0	0	0	17552	1194	42	4	333	4	ZBTB46	20	62378613	Missense_Mutation	SNP	G	TCGA-P4-A5E6-01A-11D-A28G-10		62378613	646907	96	45535											
MICAL3	57553	hgsc.bcm.edu	37	22	18300505	18300505	+	Frame_Shift_Del	DEL	T	T	-			TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr22:18300505delT	ENST00000441493.2	-	26	5274	c.4922delA	c.(4921-4923)cagfs	p.Q1641fs	MICAL3_ENST00000580469.1_5'Flank	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1641					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)		CTCCTTGCCCTGGGAGGGTGC	0.711																																																0													13	18	16					22																	18300505		1932	4104	6036	SO:0001589	frameshift_variant	57553			AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.4922delA	chr22.hg19:g.18300505delT	ENSP00000416015:p.Gln1641fs		B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Frame_Shift_Del	DEL	ENST00000441493.2	hg19	CCDS46659.1																																																																																				0.711	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			-	18300505	T	-	18300505	7	5	771	1	0	1	0	1	0	0	0	0	9573	1580	55	0	1114	0	MICAL3	22	18300505	Frame_Shift_Del	DEL	T	TCGA-P4-A5E6-01A-11D-A28G-10		18300505	33004061	97	45536											
RRP7A	27341	hgsc.bcm.edu	37	22	42912080	42912080	+	Missense_Mutation	SNP	C	C	A			TCGA-P4-A5E6-01A-11D-A28G-10	TCGA-P4-A5E6-11A-22D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c543688-1b5c-4af6-806b-9c9e444a740f	5b0f01b3-0aee-4950-87e0-0a6c395d73a4	g.chr22:42912080C>A	ENST00000323013.6	-	3	294	c.279G>T	c.(277-279)aaG>aaT	p.K93N		NM_015703.4	NP_056518.2	Q9Y3A4	RRP7A_HUMAN	ribosomal RNA processing 7 homolog A (S. cerevisiae)	93							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	10						CCAGGTCCGGCTTCTCCTGCA	0.617																																																0													57	51	53					22																	42912080		2203	4300	6503	SO:0001583	missense	27341			BC035992	CCDS14036.1	22q13.2	2008-08-08			ENSG00000189306	ENSG00000189306			24286	protein-coding gene	gene with protein product						10810093, 12087473	Standard	NM_015703		Approved	CGI-96	uc003bcq.3	Q9Y3A4	OTTHUMG00000150891	ENST00000323013.6:c.279G>T	chr22.hg19:g.42912080C>A	ENSP00000321449:p.Lys93Asn		A4FTX2|B2RBG4|Q0VAD0|Q5JZ94|Q6P4B5|Q8IVR9|Q8IVY0|Q8N5Q3|Q8NEY6|Q9Y3H5	Missense_Mutation	SNP	ENST00000323013.6	hg19	CCDS14036.1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.907011	0.33628	.	.	ENSG00000189306	ENST00000323013	T	0.15952	2.38	3.93	2.9	0.33743	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.106611	0.64402	D	0.000007	T	0.30103	0.0754	M	0.72576	2.205	0.51012	D	0.999906	D	0.56035	0.974	P	0.55577	0.779	T	0.03818	-1.1001	10	0.72032	D	0.01	-34.7209	8.4778	0.33023	0.0:0.7373:0.0:0.2627	.	93	Q9Y3A4	RRP7A_HUMAN	N	93	ENSP00000321449:K93N	ENSP00000321449:K93N	K	-	3	2	RRP7A	41242024	1.000000	0.71417	0.993000	0.49108	0.007000	0.05969	0.731000	0.26058	0.946000	0.37632	-0.346000	0.07831	AAG		0.617	RRP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320451.1	NM_015703		A	42912080	C	A	42912080	3	1	771	1	0	0	0	0	1	0	0	0	13695	796	28	4	583	4	RRP7A	22	42912080	Missense_Mutation	SNP	C	TCGA-P4-A5E6-01A-11D-A28G-10	24611575	42912080	8392486	98	45537											
HMGCL	3155	hgsc.bcm.edu	37	1	24151846	24151846	+	Splice_Site	SNP	A	A	G			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr1:24151846A>G	ENST00000374490.3	-	1	103	c.60T>C	c.(58-60)gcT>gcC	p.A20A	HMGCL_ENST00000374483.4_Intron|HMGCL_ENST00000509389.1_5'UTR|HMGCL_ENST00000436439.2_Splice_Site_p.A20A	NM_000191.2	NP_000182.2	P35914	HMGCL_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase	20					acyl-CoA metabolic process (GO:0006637)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|ketone body biosynthetic process (GO:0046951)|leucine catabolic process (GO:0006552)|liver development (GO:0001889)|mitochondrion organization (GO:0007005)|protein tetramerization (GO:0051262)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	carboxylic acid binding (GO:0031406)|fatty-acyl-CoA binding (GO:0000062)|hydroxymethylglutaryl-CoA lyase activity (GO:0004419)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12		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;0.0044)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-24)|Colorectal(126;5.58e-08)|COAD - Colon adenocarcinoma(152;3.12e-06)|GBM - Glioblastoma multiforme(114;4.9e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000982)|KIRC - Kidney renal clear cell carcinoma(1967;0.0034)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0856)|LUSC - Lung squamous cell carcinoma(448;0.188)		GGGCACTTACAGCCCGGAGGG	0.706																																																0													10	11	10					1																	24151846		2085	4077	6162	SO:0001630	splice_region_variant	3155			BC010570	CCDS243.1, CCDS53279.1	1p36.1-p35	2010-04-30	2010-04-30		ENSG00000117305	ENSG00000117305	4.1.3.4		5005	protein-coding gene	gene with protein product	"hydroxymethylglutaricaciduria"	613898	"3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase"			8102917, 8978493	Standard	NM_001166059		Approved	HL	uc001bib.3	P35914	OTTHUMG00000002963	ENST00000374490.3:c.60+1T>C	chr1.hg19:g.24151846A>G			B4DUP4|B7UCC6|D3Y5K7|Q6IBC0|Q96FP8	Silent	SNP	ENST00000374490.3	hg19	CCDS243.1	.	.	.	.	.	.	.	.	.	.	A	16.83	3.232145	0.58777	.	.	ENSG00000117305	ENST00000235958	.	.	.	5.66	2.13	0.27403	.	.	.	.	.	T	0.54549	0.1865	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45483	-0.9258	4	.	.	.	-1.3076	6.689	0.23161	0.7318:0.0:0.2682:0.0	.	.	.	.	P	16	.	.	L	-	2	0	HMGCL	24024433	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	0.764000	0.26532	0.516000	0.28340	0.533000	0.62120	CTG		0.706	HMGCL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008253.2	NM_000191	Silent	G	24151846	A	G	24151846	5	3	772	1	0	0	0	0	0	0	1	0	7231	202	7	3	953	3	HMGCL	1	24151846	Splice_Site	SNP	A	TCGA-P4-A5E7-01A-31D-A28G-10		24151846	225098775	1	45538											
SYNC	81493	hgsc.bcm.edu	37	1	33161106	33161106	+	Missense_Mutation	SNP	T	T	G	rs554437078		TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr1:33161106T>G	ENST00000409190.3	-	2	1051	c.593A>C	c.(592-594)cAt>cCt	p.H198P	SYNC_ENST00000373484.3_Missense_Mutation_p.H198P	NM_030786.2	NP_110413	Q9H7C4	SYNCI_HUMAN	syncoilin, intermediate filament protein	198	Coil 1A.				intermediate filament-based process (GO:0045103)	cytosol (GO:0005829)|intermediate filament (GO:0005882)|neuromuscular junction (GO:0031594)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	structural molecule activity (GO:0005198)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						TACAAGCTCATGGATGAGCTG	0.567																																																0													89	78	82					1																	33161106		692	1591	2283	SO:0001583	missense	81493			AK024707	CCDS367.2, CCDS53294.1	1p35.1	2013-01-16	2008-09-19	2008-09-19	ENSG00000162520	ENSG00000162520		"Intermediate filaments type III"	28897	protein-coding gene	gene with protein product		611750	"syncoilin, intermediate filament 1"	SYNC1		11053421	Standard	NM_030786		Approved	SYNCOILIN	uc001bvt.2	Q9H7C4	OTTHUMG00000008087	ENST00000409190.3:c.593A>C	chr1.hg19:g.33161106T>G	ENSP00000386439:p.His198Pro		B4DNK8|B4DY58|C9IY41	Missense_Mutation	SNP	ENST00000409190.3	hg19	CCDS367.2	.	.	.	.	.	.	.	.	.	.	T	16.44	3.123508	0.56613	.	.	ENSG00000162520	ENST00000373484;ENST00000409190	T;T	0.24350	1.86;1.86	4.57	4.57	0.56435	Filament (1);	.	.	.	.	T	0.27559	0.0677	N	0.14661	0.345	0.31839	N	0.623691	D;D	0.76494	0.998;0.999	P;D	0.75020	0.905;0.985	T	0.17471	-1.0368	9	0.31617	T	0.26	-9.3582	5.8491	0.18683	0.0:0.0877:0.1689:0.7435	.	198;198	Q9H7C4-2;Q9H7C4	.;SYNCI_HUMAN	P	198	ENSP00000362583:H198P;ENSP00000386439:H198P	ENSP00000362583:H198P	H	-	2	0	SYNC	32933693	0.988000	0.35896	0.997000	0.53966	0.958000	0.62258	1.916000	0.39986	1.853000	0.53794	0.459000	0.35465	CAT		0.567	SYNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022129.3	NM_030786		G	33161106	T	G	33161106	3	3	772	1	0	0	0	0	1	0	0	0	15448	1464	51	5	933	5	SYNC	1	33161106	Missense_Mutation	SNP	T	TCGA-P4-A5E7-01A-31D-A28G-10	9009260	33161106	216089515	2	45539											
ZC3H12A	80149	hgsc.bcm.edu	37	1	37949045	37949045	+	Missense_Mutation	SNP	A	A	T			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr1:37949045A>T	ENST00000373087.6	+	6	1749	c.1633A>T	c.(1633-1635)Agg>Tgg	p.R545W		NM_025079.2	NP_079355.2			zinc finger CCCH-type containing 12A											NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCCGTGGGGCAGGGCAGGCAG	0.647																																																0													48	58	55					1																	37949045		2203	4300	6503	SO:0001583	missense	80149				CCDS417.1	1p34.3	2012-07-05			ENSG00000163874	ENSG00000163874		"Zinc fingers, CCCH-type domain containing"	26259	protein-coding gene	gene with protein product	"MCP induced protein 1"	610562				18178554, 22055188	Standard	NM_025079		Approved	FLJ23231, MCPIP1	uc001cbb.4	Q5D1E8	OTTHUMG00000004221	ENST00000373087.6:c.1633A>T	chr1.hg19:g.37949045A>T	ENSP00000362179:p.Arg545Trp			Missense_Mutation	SNP	ENST00000373087.6	hg19	CCDS417.1	.	.	.	.	.	.	.	.	.	.	A	12.75	2.033050	0.35893	.	.	ENSG00000163874	ENST00000373087;ENST00000373082	T	0.45668	0.89	5.15	2.9	0.33743	.	0.653715	0.14763	N	0.299862	T	0.37544	0.1007	N	0.22421	0.69	0.09310	N	0.999998	D;P	0.59767	0.986;0.923	P;B	0.52554	0.702;0.221	T	0.14868	-1.0457	10	0.66056	D	0.02	-9.4135	7.823	0.29298	0.2651:0.0:0.7349:0.0	.	340;545	B3KSD3;Q5D1E8	.;ZC12A_HUMAN	W	545	ENSP00000362179:R545W	ENSP00000362174:R545W	R	+	1	2	ZC3H12A	37721632	0.000000	0.05858	0.097000	0.21041	0.675000	0.39556	0.003000	0.13083	0.284000	0.22305	0.459000	0.35465	AGG		0.647	ZC3H12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012154.2	NM_025079		T	37949045	A	T	37949045	3	4	772	1	0	0	0	0	1	0	0	0	17566	179	7	5	1651	5	ZC3H12A	1	37949045	Missense_Mutation	SNP	A	TCGA-P4-A5E7-01A-31D-A28G-10	4787939	37949045	211301576	3	45540											
KTI12	112970	hgsc.bcm.edu	37	1	52499078	52499078	+	Missense_Mutation	SNP	A	A	G	rs563103084|rs377187997	byFrequency	TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr1:52499078A>G	ENST00000371614.1	-	1	410	c.356T>C	c.(355-357)gTg>gCg	p.V119A	RP11-91A18.4_ENST00000425802.1_RNA|TXNDC12_ENST00000371626.4_Intron	NM_138417.2	NP_612426.1	Q96EK9	KTI12_HUMAN	KTI12 homolog, chromatin associated (S. cerevisiae)	119							ATP binding (GO:0005524)			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						CGCGCCCGCCACCTGAGGTCC	0.721																																																0													28	34	32					1																	52499078		2194	4277	6471	SO:0001583	missense	112970				CCDS562.1	1p32.3	2008-02-05			ENSG00000198841	ENSG00000198841			25160	protein-coding gene	gene with protein product						11929532	Standard	NM_138417		Approved	TOT4, MGC20419, SBBI81	uc001ctj.1	Q96EK9	OTTHUMG00000008630	ENST00000371614.1:c.356T>C	chr1.hg19:g.52499078A>G	ENSP00000360676:p.Val119Ala			Missense_Mutation	SNP	ENST00000371614.1	hg19	CCDS562.1	.	.	.	.	.	.	.	.	.	.	A	9.740	1.164503	0.21538	.	.	ENSG00000198841	ENST00000371614	T	0.39997	1.05	4.93	-9.87	0.00470	.	.	.	.	.	T	0.11750	0.0286	N	0.04880	-0.145	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.15150	-1.0447	9	0.05959	T	0.93	.	2.3401	0.04257	0.1327:0.1704:0.3566:0.3403	.	119	Q96EK9	KTI12_HUMAN	A	119	ENSP00000360676:V119A	ENSP00000360676:V119A	V	-	2	0	KTI12	52271666	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-2.926000	0.00691	-2.213000	0.00735	-0.256000	0.11100	GTG		0.721	KTI12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023821.1	NM_138417		G	52499078	A	G	52499078	3	3	772	1	0	0	0	0	1	0	0	0	8586	159	6	3	712	3	KTI12	1	52499078	Missense_Mutation	SNP	A	TCGA-P4-A5E7-01A-31D-A28G-10	14550033	52499078	196751543	4	45541											
DHCR24	1718	hgsc.bcm.edu	37	1	55317995	55317995	+	Missense_Mutation	SNP	A	A	C			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr1:55317995A>C	ENST00000371269.3	-	9	1560	c.1462T>G	c.(1462-1464)Tcc>Gcc	p.S488A	DHCR24_ENST00000537443.1_Missense_Mutation_p.S272A|DHCR24_ENST00000535035.1_Missense_Mutation_p.S447A	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase	488					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						TGGTACAAGGAGCCATCAAAC	0.597																																					Pancreas(39;516 1021 24601 30715 32780)											0													141	123	130					1																	55317995		2203	4300	6503	SO:0001583	missense	1718			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.1462T>G	chr1.hg19:g.55317995A>C	ENSP00000360316:p.Ser488Ala		B7Z817|D3DQ51|Q9HBA8	Missense_Mutation	SNP	ENST00000371269.3	hg19	CCDS600.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.52|13.52	2.262766|2.262766	0.39995|0.39995	.|.	.|.	ENSG00000116133|ENSG00000116133	ENST00000436604|ENST00000539536;ENST00000371269;ENST00000537443;ENST00000535035	.|T;T;T	.|0.69306	.|-0.39;-0.39;-0.39	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	.|0.277164	.|0.40064	.|N	.|0.001199	T|T	0.47451|0.47451	0.1446|0.1446	N|N	0.16478|0.16478	0.41|0.41	0.36209|0.36209	D|D	0.851231|0.851231	.|B;B;B	.|0.16166	.|0.016;0.007;0.016	.|B;B;B	.|0.14023	.|0.01;0.004;0.007	T|T	0.51236|0.51236	-0.8731|-0.8731	5|10	.|0.14252	.|T	.|0.57	-42.9406|-42.9406	11.5029|11.5029	0.50448|0.50448	0.8501:0.1499:0.0:0.0|0.8501:0.1499:0.0:0.0	.|.	.|447;447;488	.|B7Z817;B7ZAV4;Q15392	.|.;.;DHC24_HUMAN	R|A	125|214;488;272;447	.|ENSP00000360316:S488A;ENSP00000439852:S272A;ENSP00000440191:S447A	.|ENSP00000360316:S488A	L|S	-|-	2|1	0|0	DHCR24|DHCR24	55090583|55090583	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.827000|0.827000	0.46813|0.46813	3.617000|3.617000	0.54181|0.54181	2.079000|2.079000	0.62486|0.62486	0.379000|0.379000	0.24179|0.24179	CTC|TCC		0.597	DHCR24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027680.1	NM_014762		C	55317995	A	C	55317995	3	2	772	1	0	0	0	0	1	0	0	0	4478	304	11	5	92	5	DHCR24	1	55317995	Missense_Mutation	SNP	A	TCGA-P4-A5E7-01A-31D-A28G-10	2818917	55317995	193932626	5	45542											
NRAS	4893	hgsc.bcm.edu	37	1	115256491	115256491	+	Missense_Mutation	SNP	T	T	A			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr1:115256491T>A	ENST00000369535.4	-	3	473	c.220A>T	c.(220-222)Aca>Tca	p.T74S		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	74					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)			NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCTTCGCCTGTCCTCATGTAT	0.418		50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																													Dom	yes		1	1p13.2	4893	neuroblastoma RAS viral (v-ras) oncogene homolog		"L, E"	0													186	159	168					1																	115256491		2203	4300	6503	SO:0001583	missense	4893	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.220A>T	chr1.hg19:g.115256491T>A	ENSP00000358548:p.Thr74Ser		Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	hg19	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.602254	0.87055	.	.	ENSG00000213281	ENST00000369535	T	0.76186	-1.0	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.56097	U	0.000022	T	0.46054	0.1373	N	0.04373	-0.215	0.80722	D	1	B	0.31640	0.333	B	0.37833	0.259	T	0.59209	-0.7497	10	0.51188	T	0.08	.	15.0132	0.71565	0.0:0.0:0.0:1.0	.	74	P01111	RASN_HUMAN	S	74	ENSP00000358548:T74S	ENSP00000358548:T74S	T	-	1	0	NRAS	115058014	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.787000	0.85759	2.120000	0.65058	0.533000	0.62120	ACA		0.418	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		A	115256491	T	A	115256491	3	1	772	1	0	0	0	0	1	0	0	0	10642	1667	58	5	361	5	NRAS	1	115256491	Missense_Mutation	SNP	T	TCGA-P4-A5E7-01A-31D-A28G-10	59938496	115256491	133994130	6	45543											
DDR2	4921	hgsc.bcm.edu	37	1	162729664	162729664	+	Silent	SNP	G	G	A			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr1:162729664G>A	ENST00000367922.3	+	9	1188	c.750G>A	c.(748-750)gtG>gtA	p.V250V	DDR2_ENST00000367921.3_Silent_p.V250V	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	250					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)	AATACCACGTGTGGCCCGGCT	0.532																																					NSCLC(161;314 2006 8283 19651 23192)											0													119	105	110					1																	162729664		2203	4300	6503	SO:0001819	synonymous_variant	4921			AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"discoidin domain receptor family, member 2"	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.750G>A	chr1.hg19:g.162729664G>A			Q7Z730	Silent	SNP	ENST00000367922.3	hg19	CCDS1241.1																																																																																				0.532	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083213.2	NM_006182		A	162729664	G	A	162729664	2	1	772	1	0	0	0	0	0	0	0	1	4339	1364	48	2		2	DDR2	1	162729664	Silent	SNP	G	TCGA-P4-A5E7-01A-31D-A28G-10	47473173	162729664	86520957	7	45544											
C1orf114	57821	hgsc.bcm.edu	37	1	169390718	169390718	+	Frame_Shift_Del	DEL	A	A	-			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr1:169390718delA	ENST00000367806.3	-	3	1103	c.951delT	c.(949-951)tctfs	p.S317fs	CCDC181_ENST00000367805.3_Frame_Shift_Del_p.S317fs|CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000545005.1_Frame_Shift_Del_p.S317fs	NM_021179.1	NP_067002.1	Q5TID7	CC181_HUMAN	coiled-coil domain containing 181	317						nucleus (GO:0005634)											TCCTGTGATTAGATTTCCCAT	0.463																																																0													159	145	150					1																	169390718		2203	4300	6503	SO:0001589	frameshift_variant	57821			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.951delT	chr1.hg19:g.169390718delA	ENSP00000356780:p.Ser317fs		O60780|Q53FD5|Q5TID9|Q8TC48	Frame_Shift_Del	DEL	ENST00000367806.3	hg19																																																																																					0.463	CCDC181-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086099.1	NM_021179		-	169390718	A	-	169390718	7	5	772	1	0	1	0	1	0	0	0	0	1989	407	15	0	591	0	C1orf114	1	169390718	Frame_Shift_Del	DEL	A	TCGA-P4-A5E7-01A-31D-A28G-10	6661054	169390718	79859903	8	45545											
FAM98A	25940	hgsc.bcm.edu	37	2	33813426	33813426	+	Silent	SNP	T	T	C	rs561820764		TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr2:33813426T>C	ENST00000238823.8	-	4	638	c.498A>G	c.(496-498)caA>caG	p.Q166Q	FAM98A_ENST00000441530.2_Intron|FAM98A_ENST00000498340.1_Intron|FAM98A_ENST00000403368.1_Silent_p.Q166Q			Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	166							poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					CGCTGAAGAATTGGAACATAG	0.363																																																0													173	175	174					2																	33813426		2203	4300	6503	SO:0001819	synonymous_variant	25940				CCDS33179.1	2p22.3	2006-11-29		2005-11-20	ENSG00000119812	ENSG00000119812			24520	protein-coding gene	gene with protein product						12477932	Standard	NM_015475		Approved	DKFZP564F0522	uc002rpa.1	Q8NCA5	OTTHUMG00000152152	ENST00000238823.8:c.498A>G	chr2.hg19:g.33813426T>C			B2RNA2|Q9Y3Y6	Silent	SNP	ENST00000238823.8	hg19	CCDS33179.1																																																																																				0.363	FAM98A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325457.2	NM_015475		C	33813426	T	C	33813426	2	2	772	1	0	0	0	0	0	0	0	1	5658	1490	52	3		3	FAM98A	2	33813426	Silent	SNP	T	TCGA-P4-A5E7-01A-31D-A28G-10		33813426	209385947	9	45546											
TTC31	64427	hgsc.bcm.edu	37	2	74718487	74718487	+	Silent	SNP	G	G	A			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr2:74718487G>A	ENST00000233623.5	+	7	676	c.669G>A	c.(667-669)caG>caA	p.Q223Q	TTC31_ENST00000442235.2_Silent_p.Q79Q|TTC31_ENST00000463189.1_3'UTR|TTC31_ENST00000410003.1_Silent_p.Q223Q	NM_022492.4	NP_071937.4	Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31	223										breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						TTCAGGGACAGTGTGGTGAAG	0.537																																																0													127	138	134					2																	74718487		1930	4124	6054	SO:0001819	synonymous_variant	64427			AK026819	CCDS42701.1	2p13.1	2013-01-11			ENSG00000115282	ENSG00000115282		"Tetratricopeptide (TTC) repeat domain containing"	25759	protein-coding gene	gene with protein product						12477932	Standard	NM_022492		Approved	FLJ12788	uc002slt.2	Q49AM3	OTTHUMG00000152887	ENST00000233623.5:c.669G>A	chr2.hg19:g.74718487G>A			Q4KN40|Q53FD4|Q9H9F7	Silent	SNP	ENST00000233623.5	hg19	CCDS42701.1																																																																																				0.537	TTC31-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328422.1	NM_022492		A	74718487	G	A	74718487	2	1	772	1	0	0	0	0	0	0	0	1	16705	1020	36	2		2	TTC31	2	74718487	Silent	SNP	G	TCGA-P4-A5E7-01A-31D-A28G-10	40905061	74718487	168480886	10	45547											
SUCLG1	8802	hgsc.bcm.edu	37	2	84652539	84652539	+	Splice_Site	SNP	C	C	T			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr2:84652539C>T	ENST00000393868.2	-	8	1224	c.1014G>A	c.(1012-1014)aaG>aaA	p.K338K	SUCLG1_ENST00000491123.1_5'UTR	NM_003849.3	NP_003840.2	P53597	SUCA_HUMAN	succinate-CoA ligase, alpha subunit	338					cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|succinyl-CoA metabolic process (GO:0006104)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|succinate-CoA ligase complex (GDP-forming) (GO:0045244)	ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)|succinate-CoA ligase (GDP-forming) activity (GO:0004776)			kidney(4)|large_intestine(4)|lung(2)	10					Succinic acid(DB00139)	TGGAGCTCACCTTGTAGATCG	0.532																																					Ovarian(48;203 1101 37206 40305 50790)											0													77	69	71					2																	84652539		2203	4300	6503	SO:0001630	splice_region_variant	8802			Z68204	CCDS1967.2	2p11.3	2008-02-05	2008-01-08		ENSG00000163541	ENSG00000163541	6.2.1.4		11449	protein-coding gene	gene with protein product		611224	"succinate-CoA ligase, GDP-forming, alpha subunit"			9128182	Standard	NM_003849		Approved		uc002son.3	P53597	OTTHUMG00000130023	ENST00000393868.2:c.1014+1G>A	chr2.hg19:g.84652539C>T			Q9BWB0|Q9UNP6	Silent	SNP	ENST00000393868.2	hg19	CCDS1967.2																																																																																				0.532	SUCLG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252298.2	NM_003849	Silent	T	84652539	C	T	84652539	5	4	772	1	0	0	0	0	0	0	1	0	15369	695	24	2	34	2	SUCLG1	2	84652539	Splice_Site	SNP	C	TCGA-P4-A5E7-01A-31D-A28G-10	9934052	84652539	158546834	11	45548											
KCNIP3	30818	hgsc.bcm.edu	37	2	95976175	95976175	+	Missense_Mutation	SNP	A	A	G			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr2:95976175A>G	ENST00000295225.5	+	2	223	c.88A>G	c.(88-90)Atc>Gtc	p.I30V	KCNIP3_ENST00000360990.3_Missense_Mutation_p.I30V|KCNIP3_ENST00000377181.2_Intron	NM_013434.4	NP_038462.1	Q9Y2W7	CSEN_HUMAN	Kv channel interacting protein 3, calsenilin	30					apoptotic process (GO:0006915)|behavioral response to pain (GO:0048266)|intracellular protein transport (GO:0006886)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neuron apoptotic process (GO:0043523)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	axon terminus (GO:0043679)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|voltage-gated ion channel activity (GO:0005244)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16				READ - Rectum adenocarcinoma(193;0.13)		GAAGGAGGGTATCAAGTGGCA	0.622																																																0													79	86	84					2																	95976175		2203	4300	6503	SO:0001583	missense	30818			AF199599	CCDS2013.1, CCDS33245.1	2q21.1	2013-01-10	2006-02-11	2006-02-11	ENSG00000115041	ENSG00000115041		"EF-hand domain containing"	15523	protein-coding gene	gene with protein product		604662	"calsenilin, presenilin-binding protein, EF hand transcription factor"	CSEN		9771752, 10078534	Standard	NM_013434		Approved	DREAM, KCHIP3, calsenilin	uc002sup.3	Q9Y2W7	OTTHUMG00000130392	ENST00000295225.5:c.88A>G	chr2.hg19:g.95976175A>G	ENSP00000295225:p.Ile30Val		H7BY46|Q3YAC3|Q3YAC4|Q53TJ5|Q96T40|Q9UJ84|Q9UJ85	Missense_Mutation	SNP	ENST00000295225.5	hg19	CCDS2013.1	.	.	.	.	.	.	.	.	.	.	A	0.862	-0.734899	0.03111	.	.	ENSG00000115041	ENST00000295225;ENST00000360990	T;T	0.69926	-0.27;-0.44	5.02	-2.69	0.06022	.	1.487590	0.04089	N	0.310881	T	0.38983	0.1061	N	0.01874	-0.695	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.23547	-1.0185	10	0.20519	T	0.43	.	11.1112	0.48235	0.6262:0.0:0.3738:0.0	.	30;30	Q9Y2W7;Q3YAC4	CSEN_HUMAN;.	V	30	ENSP00000295225:I30V;ENSP00000354261:I30V	ENSP00000295225:I30V	I	+	1	0	KCNIP3	95339902	0.154000	0.22792	0.361000	0.25849	0.847000	0.48162	0.311000	0.19380	-0.418000	0.07450	-0.810000	0.03169	ATC		0.622	KCNIP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252770.1	NM_013434		G	95976175	A	G	95976175	3	3	772	1	0	0	0	0	1	0	0	0	8043	449	16	3	94	3	KCNIP3	2	95976175	Missense_Mutation	SNP	A	TCGA-P4-A5E7-01A-31D-A28G-10	11323636	95976175	147223198	12	45549	486	2									
KCNIP3	30818	hgsc.bcm.edu	37	2	95976177	95976177	+	Silent	SNP	C	C	T			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr2:95976177C>T	ENST00000295225.5	+	2	225	c.90C>T	c.(88-90)atC>atT	p.I30I	KCNIP3_ENST00000360990.3_Silent_p.I30I|KCNIP3_ENST00000377181.2_Intron	NM_013434.4	NP_038462.1	Q9Y2W7	CSEN_HUMAN	Kv channel interacting protein 3, calsenilin	30					apoptotic process (GO:0006915)|behavioral response to pain (GO:0048266)|intracellular protein transport (GO:0006886)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neuron apoptotic process (GO:0043523)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	axon terminus (GO:0043679)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|voltage-gated ion channel activity (GO:0005244)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16				READ - Rectum adenocarcinoma(193;0.13)		AGGAGGGTATCAAGTGGCAGA	0.627																																																0													79	86	83					2																	95976177		2203	4300	6503	SO:0001819	synonymous_variant	30818			AF199599	CCDS2013.1, CCDS33245.1	2q21.1	2013-01-10	2006-02-11	2006-02-11	ENSG00000115041	ENSG00000115041		"EF-hand domain containing"	15523	protein-coding gene	gene with protein product		604662	"calsenilin, presenilin-binding protein, EF hand transcription factor"	CSEN		9771752, 10078534	Standard	NM_013434		Approved	DREAM, KCHIP3, calsenilin	uc002sup.3	Q9Y2W7	OTTHUMG00000130392	ENST00000295225.5:c.90C>T	chr2.hg19:g.95976177C>T			H7BY46|Q3YAC3|Q3YAC4|Q53TJ5|Q96T40|Q9UJ84|Q9UJ85	Silent	SNP	ENST00000295225.5	hg19	CCDS2013.1																																																																																				0.627	KCNIP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252770.1	NM_013434		T	95976177	C	T	95976177	2	4	772	1	0	0	0	0	0	0	0	1	8043	816	29	2		2	KCNIP3	2	95976177	Silent	SNP	C	TCGA-P4-A5E7-01A-31D-A28G-10	2	95976177	147223196	13	45550	486	2									
SLC5A7	60482	hgsc.bcm.edu	37	2	108604763	108604763	+	Nonsense_Mutation	SNP	T	T	A			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr2:108604763T>A	ENST00000264047.2	+	2	428	c.152T>A	c.(151-153)tTa>tAa	p.L51*	SLC5A7_ENST00000540517.1_Intron|SLC5A7_ENST00000409059.1_Nonsense_Mutation_p.L51*	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	51					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	GATATTGGTTTATTGGTTGGT	0.532																																																0													148	131	137					2																	108604763		2203	4300	6503	SO:0001587	stop_gained	60482			AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"Solute carriers"	14025	protein-coding gene	gene with protein product		608761	"solute carrier family 5 (choline transporter), member 7"			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.152T>A	chr2.hg19:g.108604763T>A	ENSP00000264047:p.Leu51*		Q53TF2	Nonsense_Mutation	SNP	ENST00000264047.2	hg19	CCDS2074.1	.	.	.	.	.	.	.	.	.	.	T	38	6.986976	0.97983	.	.	ENSG00000115665	ENST00000409059;ENST00000264047	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-15.1779	16.3634	0.83296	0.0:0.0:0.0:1.0	.	.	.	.	X	51	.	ENSP00000264047:L51X	L	+	2	0	SLC5A7	107971195	1.000000	0.71417	0.256000	0.24389	0.386000	0.30323	7.655000	0.83696	2.324000	0.78689	0.533000	0.62120	TTA		0.532	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1			A	108604763	T	A	108604763	4	1	772	1	0	0	0	0	0	1	0	0	14676	1764	61	5	154	5	SLC5A7	2	108604763	Nonsense_Mutation	SNP	T	TCGA-P4-A5E7-01A-31D-A28G-10	12628586	108604763	134594610	14	45551											
ZRANB3	84083	hgsc.bcm.edu	37	2	135988115	135988115	+	Missense_Mutation	SNP	C	C	T			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr2:135988115C>T	ENST00000264159.6	-	13	2038	c.1922G>A	c.(1921-1923)tGt>tAt	p.C641Y	ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000401392.1_Missense_Mutation_p.C641Y|ZRANB3_ENST00000536680.1_Missense_Mutation_p.C641Y	NM_032143.2	NP_115519.2	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	641					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|DNA rewinding (GO:0036292)|DNA strand renaturation (GO:0000733)|negative regulation of DNA recombination (GO:0045910)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	nuclear replication fork (GO:0043596)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|endodeoxyribonuclease activity (GO:0004520)|helicase activity (GO:0004386)|K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		ACACATTTCACAATAAGGTAA	0.473																																																0													111	103	105					2																	135988115		1967	4164	6131	SO:0001583	missense	84083			AL136824	CCDS46419.1, CCDS67963.1, CCDS74580.1	2q21.3	2013-05-13			ENSG00000121988	ENSG00000121988		"Zinc fingers, RAN-binding domain containing"	25249	protein-coding gene	gene with protein product						11230166	Standard	XM_005263809		Approved	DKFZP434B1727	uc002tum.3	Q5FWF4	OTTHUMG00000150475	ENST00000264159.6:c.1922G>A	chr2.hg19:g.135988115C>T	ENSP00000264159:p.Cys641Tyr		B3KYA1|B4E375|B5MDI3|D3DP76|E9PBP0|Q53SM1|Q6P2C4|Q8N1P4|Q9H0E8	Missense_Mutation	SNP	ENST00000264159.6	hg19	CCDS46419.1	.	.	.	.	.	.	.	.	.	.	C	17.32	3.360568	0.61403	.	.	ENSG00000121988	ENST00000538542;ENST00000283060;ENST00000401392;ENST00000264159;ENST00000536680	D;D;D	0.99797	-6.79;-6.79;-6.79	5.61	5.61	0.85477	Zinc finger, RanBP2-type (4);	0.047816	0.85682	D	0.000000	D	0.99864	0.9936	H	0.96175	3.78	0.49213	D	0.999763	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96707	0.9522	10	0.87932	D	0	-12.7436	17.4074	0.87477	0.0:1.0:0.0:0.0	.	641;641	Q5FWF4;Q5FWF4-3	ZRAB3_HUMAN;.	Y	106;106;641;641;641	ENSP00000383979:C641Y;ENSP00000264159:C641Y;ENSP00000441320:C641Y	ENSP00000264159:C641Y	C	-	2	0	ZRANB3	135704585	1.000000	0.71417	0.995000	0.50966	0.454000	0.32378	5.258000	0.65479	2.638000	0.89438	0.563000	0.77884	TGT		0.473	ZRANB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318254.1	NM_032143		T	135988115	C	T	135988115	3	4	772	1	0	0	0	0	1	0	0	0	18229	478	17	2	1353	2	ZRANB3	2	135988115	Missense_Mutation	SNP	C	TCGA-P4-A5E7-01A-31D-A28G-10	27383352	135988115	107211258	15	45552											
SSB	6741	hgsc.bcm.edu	37	2	170667495	170667495	+	Missense_Mutation	SNP	A	A	C			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr2:170667495A>C	ENST00000409333.1	+	10	1185	c.938A>C	c.(937-939)gAa>gCa	p.E313A	METTL5_ENST00000409837.1_Intron|SSB_ENST00000260956.4_Missense_Mutation_p.E313A			P05455	LA_HUMAN	Sjogren syndrome antigen B (autoantigen La)	313					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						GTGGAAAAAGAAGCACTGAAG	0.348																																																0													66	68	67					2																	170667495		2203	4299	6502	SO:0001583	missense	6741				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.938A>C	chr2.hg19:g.170667495A>C	ENSP00000386636:p.Glu313Ala		Q15367|Q53XJ4	Missense_Mutation	SNP	ENST00000409333.1	hg19	CCDS2237.1	.	.	.	.	.	.	.	.	.	.	A	13.37	2.217202	0.39201	.	.	ENSG00000138385	ENST00000260956;ENST00000409005;ENST00000409333	T;T	0.47528	0.84;0.84	4.86	-0.881	0.10607	Nucleotide-binding, alpha-beta plait (1);RNA-binding motif (1);	0.493908	0.22411	N	0.060419	T	0.49508	0.1561	M	0.85710	2.77	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.12156	0.003;0.007	T	0.50285	-0.8846	10	0.31617	T	0.26	-0.5081	14.1431	0.65331	0.4664:0.5336:0.0:0.0	.	313;313	E9PFH8;P05455	.;LA_HUMAN	A	313	ENSP00000260956:E313A;ENSP00000386636:E313A	ENSP00000260956:E313A	E	+	2	0	SSB	170375741	1.000000	0.71417	0.890000	0.34922	0.989000	0.77384	1.295000	0.33377	-0.310000	0.08766	0.383000	0.25322	GAA		0.348	SSB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333316.1	NM_003142		C	170667495	A	C	170667495	3	2	772	1	0	0	0	0	1	0	0	0	15183	246	9	5	972	5	SSB	2	170667495	Missense_Mutation	SNP	A	TCGA-P4-A5E7-01A-31D-A28G-10	34679380	170667495	72531878	16	45553											
TNS1	7145	hgsc.bcm.edu	37	2	218678511	218678511	+	Silent	SNP	C	C	G			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr2:218678511C>G	ENST00000171887.4	-	26	4898	c.4446G>C	c.(4444-4446)ccG>ccC	p.P1482P	TNS1_ENST00000430930.1_Silent_p.P1461P|TNS1_ENST00000419504.1_Silent_p.P1469P	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1482	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)	p.P1482P(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TGAAGGCCCCCGGCTCCTGGT	0.572																																																1	Substitution - coding silent(1)	large_intestine(1)											58	58	58					2																	218678511		2203	4300	6503	SO:0001819	synonymous_variant	7145			AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	11973	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 155"	600076	"tensin", "matrix-remodelling associated 6"	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.4446G>C	chr2.hg19:g.218678511C>G			Q4ZG71|Q6IPI5	Silent	SNP	ENST00000171887.4	hg19	CCDS2407.1																																																																																				0.572	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		G	218678511	C	G	218678511	2	3	772	1	0	0	0	0	0	0	0	1	16348	639	23	4		4	TNS1	2	218678511	Silent	SNP	C	TCGA-P4-A5E7-01A-31D-A28G-10	48011016	218678511	24520862	17	45554											
ANKMY1	51281	hgsc.bcm.edu	37	2	241465102	241465102	+	Splice_Site	SNP	C	C	T			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr2:241465102C>T	ENST00000272972.3	-	6	1282	c.1068G>A	c.(1066-1068)caG>caA	p.Q356Q	ANKMY1_ENST00000361678.4_Splice_Site_p.Q215Q|ANKMY1_ENST00000401804.1_Splice_Site_p.Q445Q|ANKMY1_ENST00000403283.1_Splice_Site_p.Q294Q|ANKMY1_ENST00000406958.1_Splice_Site_p.Q215Q|ANKMY1_ENST00000462004.1_5'Flank|ANKMY1_ENST00000536462.1_Splice_Site_p.Q168Q|ANKMY1_ENST00000405002.1_Splice_Site_p.Q126Q|ANKMY1_ENST00000373318.2_Splice_Site_p.Q215Q|ANKMY1_ENST00000373320.4_Splice_Site_p.Q126Q|ANKMY1_ENST00000405523.3_Splice_Site_p.Q215Q|ANKMY1_ENST00000391987.1_Splice_Site_p.Q356Q	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	356							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)		GGGGGCTTACCTGGGGCTCAG	0.587																																																0													78	68	72					2																	241465102		2202	4300	6502	SO:0001630	splice_region_variant	51281			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.1068+1G>A	chr2.hg19:g.241465102C>T			B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Silent	SNP	ENST00000272972.3	hg19	CCDS2536.1																																																																																				0.587	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257187.2	NM_017844	Silent	T	241465102	C	T	241465102	5	4	772	1	0	0	0	0	0	0	1	0	634	695	24	2	1805	2	ANKMY1	2	241465102	Splice_Site	SNP	C	TCGA-P4-A5E7-01A-31D-A28G-10	22786591	241465102	1734271	18	45555											
C3orf54	7318	hgsc.bcm.edu	37	3	49842183	49842183	+	IGR	SNP	A	A	C			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr3:49842183A>C	ENST00000333486.3	-	0	3299				MIR5193_ENST00000584510.1_RNA|FAM212A_ENST00000333323.4_Missense_Mutation_p.E209D	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7						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)		CAGGGAGTGAAGGGGGTGACG	0.652																																																0													78	78	78					3																	49842183		2203	4300	6503	SO:0001628	intergenic_variant	389119			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		chr3.hg19:g.49842183A>C			Q9BRB2	Missense_Mutation	SNP	ENST00000333486.3	hg19	CCDS2805.1	.	.	.	.	.	.	.	.	.	.	A	14.90	2.673205	0.47781	.	.	ENSG00000185614	ENST00000333323	.	.	.	5.64	-0.363	0.12556	.	0.000000	0.52532	D	0.000077	T	0.61627	0.2362	L	0.44542	1.39	0.39146	D	0.962132	D	0.71674	0.998	D	0.63488	0.915	T	0.62358	-0.6871	9	0.56958	D	0.05	.	10.7234	0.46052	0.5054:0.0:0.4946:0.0	.	207	Q96EL1	CC054_HUMAN	D	209	.	ENSP00000329735:E209D	E	+	3	2	C3orf54	49817187	1.000000	0.71417	0.885000	0.34714	0.348000	0.29142	0.471000	0.22100	-0.003000	0.14444	0.459000	0.35465	GAA		0.652	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350503.1	NM_003335		C	49842183	A	C	49842183	1	2	772	0	1	0	0	0	0	0	0	0	2235	69	3	5		5	C3orf54	3	49842183	IGR	SNP	A	TCGA-P4-A5E7-01A-31D-A28G-10		49842183	148180247	19	45556											
ROBO1	6091	hgsc.bcm.edu	37	3	79639003	79639003	+	Frame_Shift_Del	DEL	T	T	-			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr3:79639003delT	ENST00000464233.1	-	2	172	c.59delA	c.(58-60)aatfs	p.N20fs		NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	20					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		AAACAGGTGATTTGGGGATAA	0.393																																																0													165	164	164					3																	79639003		1916	4117	6033	SO:0001589	frameshift_variant	6091			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10249	protein-coding gene	gene with protein product		602430	"roundabout (axon guidance receptor, Drosophila) homolog 1"			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.59delA	chr3.hg19:g.79639003delT	ENSP00000420321:p.Asn20fs		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Frame_Shift_Del	DEL	ENST00000464233.1	hg19	CCDS54611.1																																																																																				0.393	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		-	79639003	T	-	79639003	7	5	772	1	0	1	0	1	0	0	0	0	13519	1493	52	0	5088	0	ROBO1	3	79639003	Frame_Shift_Del	DEL	T	TCGA-P4-A5E7-01A-31D-A28G-10	29796820	79639003	118383427	20	45557											
GOLGB1	2804	hgsc.bcm.edu	37	3	121415217	121415217	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr3:121415217G>A	ENST00000340645.5	-	13	4263	c.4138C>T	c.(4138-4140)Caa>Taa	p.Q1380*	GOLGB1_ENST00000393667.3_Nonsense_Mutation_p.Q1385*	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1380					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CCAGCAATTTGTAGTTGGCTG	0.413																																																0													157	162	160					3																	121415217		2203	4299	6502	SO:0001587	stop_gained	2804			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.4138C>T	chr3.hg19:g.121415217G>A	ENSP00000341848:p.Gln1380*		B2ZZ91|D3DN92|E7EP74|Q14398	Nonsense_Mutation	SNP	ENST00000340645.5	hg19	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	G	39	7.740962	0.98465	.	.	ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517	.	.	.	6.17	3.41	0.39046	.	0.324362	0.26746	N	0.022716	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.993	0.19478	0.0:0.6622:0.1652:0.1726	.	.	.	.	X	1380;1385;1344	.	ENSP00000341848:Q1380X	Q	-	1	0	GOLGB1	122897907	0.273000	0.24181	0.748000	0.31131	0.666000	0.39218	0.959000	0.29240	0.464000	0.27142	-0.165000	0.13383	CAA		0.413	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		A	121415217	G	A	121415217	4	1	772	1	0	0	0	0	0	1	0	0	6567	1386	48	2	5681	2	GOLGB1	3	121415217	Nonsense_Mutation	SNP	G	TCGA-P4-A5E7-01A-31D-A28G-10	41776214	121415217	76607213	21	45558											
ARMC8	25852	hgsc.bcm.edu	37	3	137982982	137982982	+	Silent	SNP	C	C	T			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr3:137982982C>T	ENST00000469044.1	+	14	1498	c.1227C>T	c.(1225-1227)caC>caT	p.H409H	ARMC8_ENST00000491704.1_Silent_p.H367H|ARMC8_ENST00000538260.1_Silent_p.H378H|ARMC8_ENST00000485396.1_Silent_p.H336H|NME9_ENST00000484930.1_Intron|ARMC8_ENST00000481646.1_Silent_p.H395H|ARMC8_ENST00000393058.3_Silent_p.H399H|NME9_ENST00000383180.2_Intron|NME9_ENST00000536478.1_Intron|ARMC8_ENST00000461822.1_Silent_p.H342H|NME9_ENST00000317876.4_Intron|NME9_ENST00000341790.5_Intron	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	409										endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						GATGTTTGCACAGTTTATCCA	0.368																																																0													100	89	92					3																	137982982		1850	4099	5949	SO:0001819	synonymous_variant	25852				CCDS3098.1, CCDS54646.1, CCDS58853.1, CCDS58854.1, CCDS75020.1	3q22	2013-02-14			ENSG00000114098	ENSG00000114098		"Armadillo repeat containing"	24999	protein-coding gene	gene with protein product	"GID complex subunit 5, VID28 homolog (S. cerevisiae)"					11042152	Standard	NM_014154		Approved	HSPC056, DKFZP434A043, GID5, VID28	uc003esa.2	Q8IUR7	OTTHUMG00000159821	ENST00000469044.1:c.1227C>T	chr3.hg19:g.137982982C>T			A8K0L2|B7Z441|B7Z453|D3DNE6|F5GWK4|Q6PIL2|Q96D19|Q96HZ5|Q9NV02|Q9NV94|Q9Y4R9	Silent	SNP	ENST00000469044.1	hg19																																																																																					0.368	ARMC8-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000357560.1	NM_015396		T	137982982	C	T	137982982	2	4	772	1	0	0	0	0	0	0	0	1	957	477	17	2		2	ARMC8	3	137982982	Silent	SNP	C	TCGA-P4-A5E7-01A-31D-A28G-10	16567765	137982982	60039448	22	45559											
RBP1	5947	hgsc.bcm.edu	37	3	139237296	139237296	+	Missense_Mutation	SNP	C	C	A			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr3:139237296C>A	ENST00000232219.2	-	3	617	c.507G>T	c.(505-507)tgG>tgT	p.W169C	RP11-319G6.1_ENST00000515247.1_RNA	NM_002899.3	NP_002890.2	P09455	RET1_HUMAN	retinol binding protein 1, cellular	107					phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|vitamin A metabolic process (GO:0006776)	cytosol (GO:0005829)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|transporter activity (GO:0005215)			endometrium(1)|large_intestine(2)|lung(1)|prostate(1)	5					Acitretin(DB00459)|Vitamin A(DB00162)	TCCACTGGGTCCAGCCACGCC	0.592																																																0													120	95	104					3																	139237296		2203	4300	6503	SO:0001583	missense	5947				CCDS3110.2, CCDS46925.1, CCDS46926.1	3q21-q23	2013-03-01	2001-11-28		ENSG00000114115	ENSG00000114115		"Fatty acid binding protein family"	9919	protein-coding gene	gene with protein product		180260	"retinol-binding protein 1, cellular"			1654334, 9858824	Standard	NM_002899		Approved	CRABP-I, CRBP1, CRBP, RBPC, CRBPI	uc003eti.2	P09455	OTTHUMG00000155751	ENST00000232219.2:c.507G>T	chr3.hg19:g.139237296C>A	ENSP00000232219:p.Trp169Cys		A8K2Q0|B7Z7A0|E7EWV0|F2Z2F2|Q6FGX8	Missense_Mutation	SNP	ENST00000232219.2	hg19	CCDS3110.2	.	.	.	.	.	.	.	.	.	.	C	24.1	4.491184	0.84962	.	.	ENSG00000114115	ENST00000232219	T	0.23147	1.92	5.93	5.93	0.95920	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.000000	0.85682	D	0.000000	T	0.54759	0.1878	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.55477	-0.8135	10	0.72032	D	0.01	.	17.8376	0.88704	0.0:1.0:0.0:0.0	.	107	P09455	RET1_HUMAN	C	169	ENSP00000232219:W169C	ENSP00000232219:W169C	W	-	3	0	RBP1	140719986	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.088000	0.76901	2.815000	0.96918	0.561000	0.74099	TGG		0.592	RBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341495.1	NM_002899		A	139237296	C	A	139237296	3	1	772	1	0	0	0	0	1	0	0	0	13161	856	30	4	94	4	RBP1	3	139237296	Missense_Mutation	SNP	C	TCGA-P4-A5E7-01A-31D-A28G-10	1254314	139237296	58785134	23	45560											
EXOC1	55763	hgsc.bcm.edu	37	4	56738102	56738102	+	Missense_Mutation	SNP	T	T	C			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr4:56738102T>C	ENST00000381295.2	+	8	1400	c.1052T>C	c.(1051-1053)cTc>cCc	p.L351P	EXOC1_ENST00000346134.7_Missense_Mutation_p.L351P|EXOC1_ENST00000349598.6_Missense_Mutation_p.L351P	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	351					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)					GCCAGTCACCTCAACAATGTT	0.393																																																0													76	76	76					4																	56738102		2203	4300	6503	SO:0001583	missense	55763			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.1052T>C	chr4.hg19:g.56738102T>C	ENSP00000370695:p.Leu351Pro		Q504V4|Q8WUE7|Q96T15|Q9NZE4	Missense_Mutation	SNP	ENST00000381295.2	hg19	CCDS3502.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.548026	0.86022	.	.	ENSG00000090989	ENST00000381295;ENST00000346134;ENST00000349598	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.80813	0.4695	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.83261	-0.0048	9	0.87932	D	0	.	16.6245	0.84952	0.0:0.0:0.0:1.0	.	351;351	Q9NV70-2;Q9NV70	.;EXOC1_HUMAN	P	351	.	ENSP00000326514:L351P	L	+	2	0	EXOC1	56432859	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.546000	0.82137	2.323000	0.78572	0.528000	0.53228	CTC		0.393	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361799.1	NM_018261		C	56738102	T	C	56738102	3	2	772	1	0	0	0	0	1	0	0	0	5303	1551	54	3	1078	3	EXOC1	4	56738102	Missense_Mutation	SNP	T	TCGA-P4-A5E7-01A-31D-A28G-10		56738102	134416174	24	45561											
REST	5978	hgsc.bcm.edu	37	4	57797826	57797826	+	Missense_Mutation	SNP	A	A	C			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr4:57797826A>C	ENST00000309042.7	+	4	3116	c.2802A>C	c.(2800-2802)ttA>ttC	p.L934F		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	934					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)					GTGAAACTTTAAATGGTAAAC	0.393																																																0													63	61	62					4																	57797826		2203	4300	6503	SO:0001583	missense	5978			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.2802A>C	chr4.hg19:g.57797826A>C	ENSP00000311816:p.Leu934Phe		A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Missense_Mutation	SNP	ENST00000309042.7	hg19	CCDS3509.1	.	.	.	.	.	.	.	.	.	.	A	11.64	1.698194	0.30142	.	.	ENSG00000084093	ENST00000309042;ENST00000358605	T	0.09445	2.98	5.44	-0.433	0.12287	.	1.916850	0.03006	N	0.148774	T	0.10337	0.0253	L	0.44542	1.39	0.09310	N	1	B;B	0.22146	0.065;0.002	B;B	0.19946	0.027;0.003	T	0.36890	-0.9729	10	0.62326	D	0.03	3.7839	2.7257	0.05213	0.5094:0.2758:0.0816:0.1332	.	911;934	F8WAN5;Q13127	.;REST_HUMAN	F	934;911	ENSP00000311816:L934F	ENSP00000311816:L934F	L	+	3	2	REST	57492583	0.001000	0.12720	0.000000	0.03702	0.092000	0.18411	0.791000	0.26915	0.082000	0.17018	0.459000	0.35465	TTA		0.393	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2	NM_005612		C	57797826	A	C	57797826	3	2	772	1	0	0	0	0	1	0	0	0	13240	359	13	5	2812	5	REST	4	57797826	Missense_Mutation	SNP	A	TCGA-P4-A5E7-01A-31D-A28G-10	1059724	57797826	133356450	25	45562											
PIK3R1	5295	hgsc.bcm.edu	37	5	67588157	67588158	+	Frame_Shift_Ins	INS	-	-	G			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr5:67588157_67588158insG	ENST00000521381.1	+	8	1603_1604	c.987_988insG	c.(988-990)gatfs	p.D330fs	PIK3R1_ENST00000523872.1_5'Flank|PIK3R1_ENST00000336483.5_Frame_Shift_Ins_p.D60fs|PIK3R1_ENST00000396611.1_Frame_Shift_Ins_p.D330fs|PIK3R1_ENST00000521657.1_Frame_Shift_Ins_p.D330fs|PIK3R1_ENST00000320694.8_Frame_Shift_Ins_p.D30fs|PIK3R1_ENST00000274335.5_Frame_Shift_Ins_p.D330fs	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	330				D -> N (in Ref. 1; M61906). {ECO:0000305}.	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)	TGTCCTTACAAGATGCTGAATG	0.396			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																													Rec	yes		5	5q13.1	5295	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"		"E, O"	2	Whole gene deletion(1)|Unknown(1)	large_intestine(1)|lung(1)																																								SO:0001589	frameshift_variant	5295			M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"SH2 domain containing"	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.988dupG	chr5.hg19:g.67588158_67588158dupG	ENSP00000428056:p.Asp330fs		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Frame_Shift_Ins	INS	ENST00000521381.1	hg19	CCDS3993.1																																																																																				0.396	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		G	67588158	-	G	67588157	7	5	772	1	0	1	1	0	0	0	0	0	11920	69	3	0	1143	0	PIK3R1	5	67588157	Frame_Shift_Ins	INS	-	TCGA-P4-A5E7-01A-31D-A28G-10		67588157	113327103	26	45563											
NAIP	4671	hgsc.bcm.edu	37	5	70279772	70279772	+	Frame_Shift_Del	DEL	T	T	-			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr5:70279772delT	ENST00000517649.1	-	12	3394	c.3104delA	c.(3103-3105)aacfs	p.N1035fs	NAIP_ENST00000508426.2_Frame_Shift_Del_p.N1035fs|NAIP_ENST00000194097.4_Frame_Shift_Del_p.N1035fs|NAIP_ENST00000503719.2_Frame_Shift_Del_p.N873fs|NAIP_ENST00000523981.1_Frame_Shift_Del_p.N873fs	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein	1035					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)		TCTGCTGTGGTTTAAATGGAG	0.468																																																0																																										SO:0001589	frameshift_variant	4671			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.3104delA	chr5.hg19:g.70279772delT	ENSP00000428657:p.Asn1035fs		B9EG72|E9PHD1|O75857|Q13730|Q59GI6|Q8TDZ4|Q99796	Frame_Shift_Del	DEL	ENST00000517649.1	hg19	CCDS4009.1																																																																																				0.468	NAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372649.6	NM_004536		-	70279772	T	-	70279772	7	5	772	1	0	1	0	1	0	0	0	0	10149	1725	60	0	1131	0	NAIP	5	70279772	Frame_Shift_Del	DEL	T	TCGA-P4-A5E7-01A-31D-A28G-10	2691615	70279772	110635488	27	45564											
NQO2	4835	hgsc.bcm.edu	37	6	3010268	3010268	+	Missense_Mutation	SNP	T	T	C			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr6:3010268T>C	ENST00000338130.2	+	6	729	c.17T>C	c.(16-18)gTa>gCa	p.V6A	NQO2_ENST00000380430.1_Missense_Mutation_p.V6A|NQO2_ENST00000380441.1_Missense_Mutation_p.V6A|NQO2_ENST00000380454.4_Missense_Mutation_p.V6A|NQO2_ENST00000606474.1_3'UTR|NQO2_ENST00000380455.4_Missense_Mutation_p.V6A			P16083	NQO2_HUMAN	NAD(P)H dehydrogenase, quinone 2	6					memory (GO:0007613)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	dihydronicotinamide riboside quinone reductase activity (GO:0001512)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADPH dehydrogenase (quinone) activity (GO:0008753)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Dabigatran etexilate(DB06695)|Flavin adenine dinucleotide(DB03147)|Melatonin(DB01065)|Menadione(DB00170)|Primaquine(DB01087)	GGTAAGAAAGTACTCATTGTC	0.423																																																0													97	87	90					6																	3010268		2203	4300	6503	SO:0001583	missense	4835			U07736	CCDS4481.1, CCDS75388.1	6p25.2	2012-09-20	2001-11-30	2001-12-07	ENSG00000124588	ENSG00000124588	1.6.5.2		7856	protein-coding gene	gene with protein product		160998	"NAD(P)H menadione oxidoreductase 2, dioxin-inducible"	NMOR2		1691923	Standard	XM_005249152		Approved	QR2, DHQV, DIA6	uc003mus.2	P16083	OTTHUMG00000014130	ENST00000338130.2:c.17T>C	chr6.hg19:g.3010268T>C	ENSP00000337773:p.Val6Ala		B2R492|Q5TD04	Missense_Mutation	SNP	ENST00000338130.2	hg19	CCDS4481.1	.	.	.	.	.	.	.	.	.	.	T	12.76	2.034069	0.35893	.	.	ENSG00000124588	ENST00000426637;ENST00000380472;ENST00000538898;ENST00000397717;ENST00000338130;ENST00000380441;ENST00000380455;ENST00000380454;ENST00000380430	T;T;T;T;T;T;T;T	0.11930	2.81;2.73;2.73;2.81;2.81;2.81;2.81;2.81	5.63	5.63	0.86233	Flavodoxin-like fold (1);	0.123571	0.56097	D	0.000034	T	0.18800	0.0451	L	0.52823	1.66	0.44771	D	0.997777	P;D	0.89917	0.613;1.0	P;D	0.91635	0.851;0.999	T	0.06516	-1.0822	10	0.16896	T	0.51	-27.3633	13.5807	0.61901	0.0:0.0:0.0:1.0	.	6;53	P16083;Q59EN2	NQO2_HUMAN;.	A	6;6;53;6;6;6;6;6;6	ENSP00000406951:V6A;ENSP00000369839:V6A;ENSP00000380829:V6A;ENSP00000337773:V6A;ENSP00000369806:V6A;ENSP00000369822:V6A;ENSP00000369821:V6A;ENSP00000369795:V6A	ENSP00000337773:V6A	V	+	2	0	NQO2	2955267	0.985000	0.35326	1.000000	0.80357	0.371000	0.29859	1.927000	0.40094	2.140000	0.66376	0.460000	0.39030	GTA		0.423	NQO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039651.1			C	3010268	T	C	3010268	3	2	772	1	0	0	0	0	1	0	0	0	10614	1638	57	3	23	3	NQO2	6	3010268	Missense_Mutation	SNP	T	TCGA-P4-A5E7-01A-31D-A28G-10		3010268	168104799	28	45565											
GABBR1	2550	hgsc.bcm.edu	37	6	29595420	29595420	+	Missense_Mutation	SNP	C	C	T			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr6:29595420C>T	ENST00000377034.4	-	6	835	c.500G>A	c.(499-501)cGg>cAg	p.R167Q	GABBR1_ENST00000377012.4_Missense_Mutation_p.R50Q|GABBR1_ENST00000376977.3_Missense_Mutation_p.R167Q|GABBR1_ENST00000355973.3_Missense_Mutation_p.R50Q|GABBR1_ENST00000377016.4_Missense_Mutation_p.R105Q	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	167					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	CACTGCGCGCCGTTCTGAGGA	0.716																																																0													5	5	5					6																	29595420		1961	3937	5898	SO:0001583	missense	2550			Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"GABA receptors", "GPCR / Class C : GABA(B) receptors"	4070	protein-coding gene	gene with protein product	"GABA-B receptor"	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.500G>A	chr6.hg19:g.29595420C>T	ENSP00000366233:p.Arg167Gln		B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Missense_Mutation	SNP	ENST00000377034.4	hg19	CCDS4663.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.313674	0.60414	.	.	ENSG00000204681	ENST00000355973;ENST00000376977;ENST00000377016;ENST00000377012;ENST00000377034	D;T;D;D;T	0.82984	-1.67;-0.98;-1.57;-1.67;-0.45	3.25	3.25	0.37280	.	0.279410	0.27912	U	0.017356	T	0.57257	0.2041	L	0.46157	1.445	0.33376	D	0.574201	B;B;B;B	0.28208	0.071;0.065;0.063;0.203	B;B;B;B	0.21151	0.033;0.01;0.011;0.028	T	0.49263	-0.8958	10	0.22109	T	0.4	-24.9114	6.2007	0.20575	0.0:0.8596:0.0:0.1404	.	167;105;167;50	Q9UBS5-5;Q9UBS5-3;Q9UBS5;Q5SUJ9	.;.;GABR1_HUMAN;.	Q	50;167;105;50;167	ENSP00000348248:R50Q;ENSP00000366176:R167Q;ENSP00000366215:R105Q;ENSP00000366211:R50Q;ENSP00000366233:R167Q	ENSP00000348248:R50Q	R	-	2	0	GABBR1	29703399	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.661000	0.46758	1.645000	0.50612	0.455000	0.32223	CGG		0.716	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3			T	29595420	C	T	29595420	3	4	772	1	0	0	0	0	1	0	0	0	6157	652	23	1	2457	1	GABBR1	6	29595420	Missense_Mutation	SNP	C	TCGA-P4-A5E7-01A-31D-A28G-10	26585152	29595420	141519647	29	45566											
NFKBIL1	4795	hgsc.bcm.edu	37	6	31526116	31526116	+	Missense_Mutation	SNP	G	G	A			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr6:31526116G>A	ENST00000376148.4	+	4	988	c.874G>A	c.(874-876)Ggc>Agc	p.G292S	NFKBIL1_ENST00000376145.4_Missense_Mutation_p.G277S	NM_005007.3	NP_004998.3	Q9UBC1	IKBL1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1	292					cellular response to lipopolysaccharide (GO:0071222)|cytoplasmic sequestering of transcription factor (GO:0042994)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)	cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						AGCGGGGAGGGGCAGCCTCTG	0.711																																																0													7	7	7					6																	31526116		1474	2672	4146	SO:0001583	missense	4795			X77909	CCDS4700.1, CCDS47399.1, CCDS47400.1	6p21.3	2010-02-17			ENSG00000204498	ENSG00000204498			7800	protein-coding gene	gene with protein product		601022		NFKBIL		8081366	Standard	NM_005007		Approved	IKBL	uc003nub.3	Q9UBC1	OTTHUMG00000031038	ENST00000376148.4:c.874G>A	chr6.hg19:g.31526116G>A	ENSP00000365318:p.Gly292Ser		A6NL91|B4DUW1|Q14625|Q5HYU4|Q5RJ72|Q5ST96|Q5STV4|Q5STV5|Q9UBX4	Missense_Mutation	SNP	ENST00000376148.4	hg19	CCDS4700.1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.218538	0.39201	.	.	ENSG00000204498	ENST00000376146;ENST00000376148;ENST00000376145	T;T;T	0.30448	1.53;1.53;1.53	5.95	3.09	0.35607	.	0.261597	0.36555	N	0.002538	T	0.04318	0.0119	N	0.11560	0.145	0.31038	N	0.71666	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.39820	-0.9595	10	0.17369	T	0.5	-13.1009	5.6448	0.17584	0.1708:0.1613:0.6679:0.0	.	269;277;292	Q5STV6;Q5STV4;Q9UBC1	.;.;IKBL1_HUMAN	S	269;292;277	ENSP00000365316:G269S;ENSP00000365318:G292S;ENSP00000365315:G277S	ENSP00000365315:G277S	G	+	1	0	NFKBIL1	31634095	0.998000	0.40836	0.997000	0.53966	0.980000	0.70556	0.920000	0.28705	0.863000	0.35553	0.563000	0.77884	GGC		0.711	NFKBIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076036.3	NM_005007		A	31526116	G	A	31526116	3	1	772	1	0	0	0	0	1	0	0	0	10383	1232	43	2	888	2	NFKBIL1	6	31526116	Missense_Mutation	SNP	G	TCGA-P4-A5E7-01A-31D-A28G-10	1930696	31526116	139588951	30	45567											
HCRTR2	3062	hgsc.bcm.edu	37	6	55039411	55039411	+	Missense_Mutation	SNP	C	C	G	rs76774128		TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr6:55039411C>G	ENST00000370862.3	+	1	362	c.26C>G	c.(25-27)tCc>tGc	p.S9C		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	9					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)	p.P11fs*11(1)		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)			TTGGAGGACTCCCCCCCTTGT	0.567																																																1	Deletion - Frameshift(1)	upper_aerodigestive_tract(1)											101	96	98					6																	55039411		2203	4300	6503	SO:0001583	missense	3062			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.26C>G	chr6.hg19:g.55039411C>G	ENSP00000359899:p.Ser9Cys		Q5VTM0	Missense_Mutation	SNP	ENST00000370862.3	hg19	CCDS4956.1	.	.	.	.	.	.	.	.	.	.	C	12.39	1.922205	0.33908	.	.	ENSG00000137252	ENST00000370862	T	0.62232	0.04	4.81	3.94	0.45596	.	0.414369	0.27084	N	0.021005	T	0.30572	0.0769	L	0.36672	1.1	0.32083	N	0.592878	B	0.02656	0.0	B	0.04013	0.001	T	0.14227	-1.0480	10	0.42905	T	0.14	.	8.2548	0.31748	0.0:0.7582:0.1587:0.0831	.	9	O43614	OX2R_HUMAN	C	9	ENSP00000359899:S9C	ENSP00000359899:S9C	S	+	2	0	HCRTR2	55147370	0.019000	0.18553	1.000000	0.80357	0.907000	0.53573	0.521000	0.22893	1.246000	0.43901	-0.257000	0.10917	TCC		0.567	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1			G	55039411	C	G	55039411	3	3	772	1	0	0	0	0	1	0	0	0	7004	855	30	4	28	4	HCRTR2	6	55039411	Missense_Mutation	SNP	C	TCGA-P4-A5E7-01A-31D-A28G-10	23513295	55039411	116075656	31	45568											
COL12A1	1303	hgsc.bcm.edu	37	6	75848659	75848659	+	Missense_Mutation	SNP	G	G	T			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr6:75848659G>T	ENST00000322507.8	-	28	5285	c.4976C>A	c.(4975-4977)aCa>aAa	p.T1659K	COL12A1_ENST00000483888.2_Missense_Mutation_p.T1659K|COL12A1_ENST00000416123.2_Missense_Mutation_p.T1659K|COL12A1_ENST00000345356.6_Missense_Mutation_p.T495K	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1659	Fibronectin type-III 12. {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						CTTTAAGTTTGTTGGGGCTGG	0.403																																																0													102	102	102					6																	75848659		1847	4078	5925	SO:0001583	missense	1303			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens", "Fibronectin type III domain containing"	2188	protein-coding gene	gene with protein product	"collagen type XII proteoglycan"	120320	"collagen, type XII, alpha 1-like"	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.4976C>A	chr6.hg19:g.75848659G>T	ENSP00000325146:p.Thr1659Lys		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	hg19	CCDS43482.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.188|0.188	-1.055736|-1.055736	0.01965|0.01965	.|.	.|.	ENSG00000111799|ENSG00000111799	ENST00000419671|ENST00000322507;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	.|T;T;T;T	.|0.57752	.|0.38;0.38;0.38;0.38	5.95|5.95	4.98|4.98	0.66077|0.66077	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	.|0.429258	.|0.26428	.|N	.|0.024432	T|T	0.11410|0.11410	0.0278|0.0278	N|N	0.20685|0.20685	0.6|0.6	0.09310|0.09310	N|N	0.999999|0.999999	.|B;B	.|0.06786	.|0.0;0.001	.|B;B	.|0.08055	.|0.002;0.003	T|T	0.34850|0.34850	-0.9812|-0.9812	5|10	.|0.02654	.|T	.|1	.|.	5.5016|5.5016	0.16831|0.16831	0.1314:0.0:0.661:0.2076|0.1314:0.0:0.661:0.2076	.|.	.|495;1659	.|Q99715-2;Q99715	.|.;COCA1_HUMAN	K|K	400|1659;1659;495;1659;1659	.|ENSP00000325146:T1659K;ENSP00000305147:T495K;ENSP00000412864:T1659K;ENSP00000421216:T1659K	.|ENSP00000325146:T1659K	N|T	-|-	3|2	2|0	COL12A1|COL12A1	75905379|75905379	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.021000|0.021000	0.10359|0.10359	2.434000|2.434000	0.44802|0.44802	2.827000|2.827000	0.97445|0.97445	0.650000|0.650000	0.86243|0.86243	AAC|ACA		0.403	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		T	75848659	G	T	75848659	3	4	772	1	0	0	0	0	1	0	0	0	3671	1377	48	4	4371	4	COL12A1	6	75848659	Missense_Mutation	SNP	G	TCGA-P4-A5E7-01A-31D-A28G-10	20809248	75848659	95266408	32	45569											
RSPH3	83861	hgsc.bcm.edu	37	6	159398820	159398821	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	TG	TG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr6:159398820_159398821delTG	ENST00000252655.1	-	8	1621_1622	c.1432_1433delCA	c.(1432-1434)catfs	p.H478fs	RSPH3_ENST00000607398.1_5'Flank|RSPH3_ENST00000297262.3_Frame_Shift_Del_p.H382fs|RSPH3_ENST00000449822.1_Frame_Shift_Del_p.H240fs|RSPH3_ENST00000367069.2_Frame_Shift_Del_p.H336fs	NM_031924.4	NP_114130.3	Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog (Chlamydomonas)	478										endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		TGGAGACTGATGTGTGTCTTCC	0.48																																																0																																										SO:0001589	frameshift_variant	83861			AF353618	CCDS5260.1	6q25.3	2014-05-16	2008-07-04	2007-06-26	ENSG00000130363	ENSG00000130363			21054	protein-coding gene	gene with protein product		615876	"radial spokehead-like 2"	RSHL2		12477932	Standard	NM_031924		Approved	dJ111C20.1, RSP3	uc003qrx.3	Q86UC2	OTTHUMG00000015924	ENST00000252655.1:c.1432_1433delCA	chr6.hg19:g.159398824_159398825delTG	ENSP00000252655:p.His478fs		Q96LQ5|Q96LX2|Q9BX75	Frame_Shift_Del	DEL	ENST00000252655.1	hg19	CCDS5260.1																																																																																				0.48	RSPH3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_031924		-	159398821	TG	-	159398820	7	5	772	1	0	1	0	1	0	0	0	0	13711	1464	51	0	253	0	RSPH3	6	159398820	Frame_Shift_Del	DEL	TG	TCGA-P4-A5E7-01A-31D-A28G-10	83550161	159398820	11716247	33	45570											
THSD7A	221981	hgsc.bcm.edu	37	7	11486930	11486931	+	Frame_Shift_Ins	INS	-	-	T			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr7:11486930_11486931insT	ENST00000423059.4	-	12	2977_2978	c.2726_2727insA	c.(2725-2727)ttgfs	p.L909fs	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	909	TSP type-1 9. {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)		ACCAGCTGGTCAATTGACAGTC	0.53										HNSCC(18;0.044)																																						0																																										SO:0001589	frameshift_variant	221981				CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.2726_2727insA	chr7.hg19:g.11486930_11486931insT	ENSP00000406482:p.Leu909fs			Frame_Shift_Ins	INS	ENST00000423059.4	hg19	CCDS47543.1																																																																																				0.53	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		T	11486931	-	T	11486930	7	5	772	1	0	1	1	0	0	0	0	0	15884	825	29	0	2310	0	THSD7A	7	11486930	Frame_Shift_Ins	INS	-	TCGA-P4-A5E7-01A-31D-A28G-10		11486930	147651733	34	45571											
AHR	196	hgsc.bcm.edu	37	7	17375399	17375399	+	Missense_Mutation	SNP	G	G	C			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr7:17375399G>C	ENST00000242057.4	+	9	1792	c.1149G>C	c.(1147-1149)caG>caC	p.Q383H	AHR_ENST00000492120.1_3'UTR	NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	383	PAC.				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)	p.Q383H(2)		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)	TTGTAACTCAGAGACCACTAA	0.348																																																2	Substitution - Missense(2)	lung(2)											71	63	66					7																	17375399		2202	4300	6502	SO:0001583	missense	196			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.1149G>C	chr7.hg19:g.17375399G>C	ENSP00000242057:p.Gln383His		A4D130|Q13728|Q13803|Q13804	Missense_Mutation	SNP	ENST00000242057.4	hg19	CCDS5366.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.930150	0.52759	.	.	ENSG00000106546	ENST00000242057	T	0.05447	3.44	5.98	-1.41	0.08941	.	0.000000	0.85682	D	0.000000	T	0.06917	0.0176	L	0.43152	1.355	0.44798	D	0.997802	B	0.28128	0.201	B	0.31390	0.129	T	0.22277	-1.0221	10	0.62326	D	0.03	.	12.8346	0.57765	0.6126:0.0:0.3874:0.0	.	383	P35869	AHR_HUMAN	H	383	ENSP00000242057:Q383H	ENSP00000242057:Q383H	Q	+	3	2	AHR	17341924	0.995000	0.38212	0.977000	0.42913	0.859000	0.49053	0.361000	0.20267	-0.292000	0.08999	0.591000	0.81541	CAG		0.348	AHR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314620.2	NM_001621		C	17375399	G	C	17375399	3	2	772	1	0	0	0	0	1	0	0	0	416	933	33	4	1183	4	AHR	7	17375399	Missense_Mutation	SNP	G	TCGA-P4-A5E7-01A-31D-A28G-10	5888469	17375399	141763264	35	45572											
AUTS2	26053	hgsc.bcm.edu	37	7	69364300	69364300	+	Missense_Mutation	SNP	G	G	A			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr7:69364300G>A	ENST00000342771.4	+	2	659	c.338G>A	c.(337-339)cGt>cAt	p.R113H	AUTS2_ENST00000403018.2_Missense_Mutation_p.R113H|AUTS2_ENST00000406775.2_Missense_Mutation_p.R113H	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	113								p.R113L(1)		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)		CCTCAGGAACGTGTGGAGAAA	0.473																																																1	Substitution - Missense(1)	lung(1)											86	79	81					7																	69364300		2203	4300	6503	SO:0001583	missense	26053			AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.338G>A	chr7.hg19:g.69364300G>A	ENSP00000344087:p.Arg113His		A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	ENST00000342771.4	hg19	CCDS5539.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.345953	0.82022	.	.	ENSG00000158321	ENST00000406775;ENST00000342771;ENST00000403018	T;T	0.39787	1.06;1.08	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000019	T	0.56187	0.1968	L	0.46157	1.445	0.23872	N	0.9966	D;D;D	0.89917	0.997;0.994;1.0	P;P;D	0.69824	0.862;0.754;0.966	T	0.48980	-0.8986	9	.	.	.	-11.4592	14.7871	0.69810	0.0:0.2577:0.7423:0.0	.	113;113;113	Q8WXX7-2;Q8WXX7;Q6PJU5	.;AUTS2_HUMAN;.	H	113	ENSP00000385263:R113H;ENSP00000344087:R113H	.	R	+	2	0	AUTS2	69002236	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.796000	0.62496	2.941000	0.99782	0.655000	0.94253	CGT		0.473	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			A	69364300	G	A	69364300	3	1	772	1	0	0	0	0	1	0	0	0	1225	1145	40	1	344	1	AUTS2	7	69364300	Missense_Mutation	SNP	G	TCGA-P4-A5E7-01A-31D-A28G-10	51988901	69364300	89774363	36	45573											
BAZ1B	9031	hgsc.bcm.edu	37	7	72873963	72873963	+	Missense_Mutation	SNP	A	A	G			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr7:72873963A>G	ENST00000339594.4	-	13	3673	c.3335T>C	c.(3334-3336)tTc>tCc	p.F1112S	BAZ1B_ENST00000404251.1_Missense_Mutation_p.F1112S	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1112					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)				GGGAGCCATGAAGCCTTGGAG	0.398																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)											0													146	140	142					7																	72873963		2203	4300	6503	SO:0001583	missense	9031			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.3335T>C	chr7.hg19:g.72873963A>G	ENSP00000342434:p.Phe1112Ser		B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation	SNP	ENST00000339594.4	hg19	CCDS5549.1	.	.	.	.	.	.	.	.	.	.	A	28.2	4.902860	0.92035	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	T;T	0.59364	0.27;0.27	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.64305	0.2586	L	0.32530	0.975	0.58432	D	0.999999	D	0.71674	0.998	D	0.71656	0.974	T	0.59963	-0.7355	10	0.22109	T	0.4	-20.6332	14.9627	0.71169	1.0:0.0:0.0:0.0	.	1112	Q9UIG0	BAZ1B_HUMAN	S	1112	ENSP00000342434:F1112S;ENSP00000385442:F1112S	ENSP00000342434:F1112S	F	-	2	0	BAZ1B	72511899	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.697000	0.91307	2.125000	0.65367	0.533000	0.62120	TTC		0.398	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408		G	72873963	A	G	72873963	3	3	772	1	0	0	0	0	1	0	0	0	1330	246	9	3	1144	3	BAZ1B	7	72873963	Missense_Mutation	SNP	A	TCGA-P4-A5E7-01A-31D-A28G-10	3509663	72873963	86264700	37	45574											
CUX1	1523	hgsc.bcm.edu	37	7	101882763	101882763	+	Silent	SNP	G	G	A	rs140169027		TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr7:101882763G>A	ENST00000292535.7	+	23	3824	c.3786G>A	c.(3784-3786)gcG>gcA	p.A1262A	CUX1_ENST00000560541.1_Intron|CUX1_ENST00000546411.2_Silent_p.A1160A|AC005088.1_ENST00000580604.1_RNA|CUX1_ENST00000360264.3_Silent_p.A1273A|CUX1_ENST00000549414.2_Silent_p.A1240A|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Silent_p.A1104A|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000550008.2_Silent_p.A1206A	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	1262					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						TGAAACGAGCGTATCAGCAAA	0.597																																																0								G	,,,,,,	0,4406		0,0,2203	113	109	110		3819,,,,,,3786	-9.8	0	7	dbSNP_134	110	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,intron,intron,intron,intron,intron,coding-synonymous	CUX1	NM_001202543.1,NM_001202544.1,NM_001202545.1,NM_001202546.1,NM_001913.3,NM_181500.2,NM_181552.3	,,,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,,,	1273/1517,,,,,,1262/1506	101882763	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1523			M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"Homeoboxes / CUT class"	2557	protein-coding gene	gene with protein product	"golgi integral membrane protein 6"	116896	"cut (Drosophila)-like 1 (CCAAT displacement protein)", "cut-like 1, CCAAT displacement protein (Drosophila)"	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.3786G>A	chr7.hg19:g.101882763G>A			B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Silent	SNP	ENST00000292535.7	hg19	CCDS5721.1																																																																																				0.597	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		A	101882763	G	A	101882763	2	1	772	1	0	0	0	0	0	0	0	1	4066	1132	40	1		1	CUX1	7	101882763	Silent	SNP	G	TCGA-P4-A5E7-01A-31D-A28G-10	29008800	101882763	57255900	38	45575											
MLL3	58508	hgsc.bcm.edu	37	7	151845991	151845991	+	Missense_Mutation	SNP	C	C	A			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr7:151845991C>A	ENST00000262189.6	-	52	13239	c.13021G>T	c.(13021-13023)Ggg>Tgg	p.G4341W	KMT2C_ENST00000355193.2_Missense_Mutation_p.G4398W	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4341					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)										TCTTCAAACCCACCATGGACA	0.493																																																0													63	59	60					7																	151845991		2203	4300	6503	SO:0001583	missense	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.13021G>T	chr7.hg19:g.151845991C>A	ENSP00000262189:p.Gly4341Trp		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	hg19	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.63|13.63	2.295838|2.295838	0.40594|0.40594	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000424877|ENST00000360104	D;D;D|.	0.88975|.	-1.77;-1.77;-2.45|.	5.4|5.4	4.52|4.52	0.55395|0.55395	.|.	0.152286|.	0.29892|.	U|.	0.010923|.	T|T	0.64670|0.64670	0.2619|0.2619	M|M	0.65498|0.65498	2.005|2.005	0.80722|0.80722	D|D	1|1	D;D;D|.	0.69078|.	0.997;0.997;0.997|.	P;D;D|.	0.68483|.	0.907;0.958;0.958|.	T|T	0.63637|0.63637	-0.6592|-0.6592	10|5	0.49607|.	T|.	0.09|.	.|.	10.7105|10.7105	0.45980|0.45980	0.0:0.8351:0.0:0.1649|0.0:0.8351:0.0:0.1649	.|.	4341;3459;4398|.	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3|.	MLL3_HUMAN;.;.|.	W|L	4341;4398;958|1901	ENSP00000262189:G4341W;ENSP00000347325:G4398W;ENSP00000410411:G958W|.	ENSP00000262189:G4341W|.	G|W	-|-	1|2	0|0	MLL3|MLL3	151476924|151476924	0.007000|0.007000	0.16637|0.16637	0.015000|0.015000	0.15790|0.15790	0.970000|0.970000	0.65996|0.65996	1.934000|1.934000	0.40163|0.40163	1.273000|1.273000	0.44346|0.44346	0.650000|0.650000	0.86243|0.86243	GGG|TGG		0.493	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			A	151845991	C	A	151845991	3	1	772	1	0	0	0	0	1	0	0	0	9624	594	21	4	1746	4	MLL3	7	151845991	Missense_Mutation	SNP	C	TCGA-P4-A5E7-01A-31D-A28G-10	49963228	151845991	7292672	39	45576											
MLL3	58508	hgsc.bcm.edu	37	7	151873882	151873883	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	TT	TT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr7:151873882_151873883delTT	ENST00000262189.6	-	38	8873_8874	c.8655_8656delAA	c.(8653-8658)gaaactfs	p.ET2885fs	KMT2C_ENST00000355193.2_Frame_Shift_Del_p.ET2885fs	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2885					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)										GGGCCAGCAGTTTCTCGATTGG	0.441																																																0																																										SO:0001589	frameshift_variant	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.8655_8656delAA	chr7.hg19:g.151873882_151873883delTT	ENSP00000262189:p.Glu2885fs		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Del	DEL	ENST00000262189.6	hg19	CCDS5931.1																																																																																				0.441	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			-	151873883	TT	-	151873882	7	5	772	1	0	1	0	1	0	0	0	0	9624	1725	60	0	6167	0	MLL3	7	151873882	Frame_Shift_Del	DEL	TT	TCGA-P4-A5E7-01A-31D-A28G-10	27891	151873882	7264781	40	45577											
VDAC3	7419	hgsc.bcm.edu	37	8	42259309	42259309	+	Missense_Mutation	SNP	G	G	C			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr8:42259309G>C	ENST00000022615.4	+	7	395	c.327G>C	c.(325-327)aaG>aaC	p.K109N	VDAC3_ENST00000392935.3_Missense_Mutation_p.K110N|VDAC3_ENST00000521158.1_Missense_Mutation_p.K110N|VDAC3_ENST00000522572.1_Missense_Mutation_p.K110N			Q9Y277	VDAC3_HUMAN	voltage-dependent anion channel 3	109					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)	ATTGCAGAAAGAAGAGTGGGA	0.378																																																0													100	100	100					8																	42259309		2203	4300	6503	SO:0001583	missense	7419			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.327G>C	chr8.hg19:g.42259309G>C	ENSP00000022615:p.Lys109Asn		Q9UIS0	Missense_Mutation	SNP	ENST00000022615.4	hg19	CCDS6131.1	.	.	.	.	.	.	.	.	.	.	G	19.10	3.761925	0.69763	.	.	ENSG00000078668	ENST00000518563;ENST00000392935;ENST00000520115;ENST00000522069;ENST00000522572;ENST00000521158;ENST00000022615	T;T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87;0.87	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.64713	0.2623	M	0.73962	2.25	0.80722	D	1	D	0.67145	0.996	D	0.70935	0.971	T	0.61936	-0.6960	10	0.40728	T	0.16	-12.3041	17.6115	0.88055	0.0:0.0:1.0:0.0	.	109	Q9Y277	VDAC3_HUMAN	N	77;110;109;109;110;110;109	ENSP00000428977:K77N;ENSP00000442811:K110N;ENSP00000428519:K109N;ENSP00000429006:K109N;ENSP00000428029:K110N;ENSP00000428845:K110N;ENSP00000022615:K109N	ENSP00000022615:K109N	K	+	3	2	VDAC3	42378466	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.582000	0.74049	2.832000	0.97577	0.650000	0.86243	AAG		0.378	VDAC3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000377574.1			C	42259309	G	C	42259309	3	2	772	1	0	0	0	0	1	0	0	0	17153	933	33	4	348	4	VDAC3	8	42259309	Missense_Mutation	SNP	G	TCGA-P4-A5E7-01A-31D-A28G-10		42259309	104104713	41	45578											
SLC7A13	157724	hgsc.bcm.edu	37	8	87235298	87235298	+	Frame_Shift_Del	DEL	T	T	-			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr8:87235298delT	ENST00000297524.3	-	2	823	c.720delA	c.(718-720)aaafs	p.K240fs	SLC7A13_ENST00000520624.1_5'UTR|SLC7A13_ENST00000419776.2_Frame_Shift_Del_p.K231fs	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	240						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						TAAATATGCATTTGGGAATTG	0.363																																																0													147	152	150					8																	87235298		2203	4300	6503	SO:0001589	frameshift_variant	157724			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.720delA	chr8.hg19:g.87235298delT	ENSP00000297524:p.Lys240fs		Q05C37|Q08AH9|Q96N84	Frame_Shift_Del	DEL	ENST00000297524.3	hg19	CCDS34917.1																																																																																				0.363	SLC7A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374704.1	NM_138817		-	87235298	T	-	87235298	7	5	772	1	0	1	0	1	0	0	0	0	14701	1490	52	0	704	0	SLC7A13	8	87235298	Frame_Shift_Del	DEL	T	TCGA-P4-A5E7-01A-31D-A28G-10	44975989	87235298	59128724	42	45579											
SFMBT2	57713	hgsc.bcm.edu	37	10	7214001	7214001	+	Silent	SNP	G	G	A	rs370293109		TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr10:7214001G>A	ENST00000361972.4	-	19	2361	c.2271C>T	c.(2269-2271)ccC>ccT	p.P757P	SFMBT2_ENST00000397167.1_Silent_p.P757P	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	757					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						CGGCCCTCCGGGGCCGGGCCG	0.746																																																0								G	,	0,4346		0,0,2173	12	15	14		2271,2271	0.9	1	10		14	1,8505		0,1,4252	no	coding-synonymous,coding-synonymous	SFMBT2	NM_001018039.1,NM_001029880.2	,	0,1,6425	AA,AG,GG		0.0118,0.0,0.0078	,	757/895,757/895	7214001	1,12851	2173	4253	6426	SO:0001819	synonymous_variant	57713			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.2271C>T	chr10.hg19:g.7214001G>A			A7MD09|Q9HCF5	Silent	SNP	ENST00000361972.4	hg19	CCDS31138.1																																																																																				0.746	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		A	7214001	G	A	7214001	2	1	772	1	0	0	0	0	0	0	0	1	14164	1219	43	2		2	SFMBT2	10	7214001	Silent	SNP	G	TCGA-P4-A5E7-01A-31D-A28G-10		7214001	128320746	43	45580											
PLXDC2	84898	hgsc.bcm.edu	37	10	20335920	20335920	+	Missense_Mutation	SNP	G	G	T			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr10:20335920G>T	ENST00000377252.4	+	3	1288	c.447G>T	c.(445-447)ttG>ttT	p.L149F	PLXDC2_ENST00000377238.2_3'UTR|PLXDC2_ENST00000377242.3_Intron	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	149					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						ATGGAATATTGTCCAATACTC	0.373																																																0													95	93	93					10																	20335920		2203	4300	6503	SO:0001583	missense	84898			AF378757	CCDS7132.1, CCDS60497.1	10p12.33	2006-04-12			ENSG00000120594	ENSG00000120594			21013	protein-coding gene	gene with protein product	"tumor endothelial marker 7-related precursor"	606827				11559528	Standard	NM_001282736		Approved	TEM7R, FLJ14623	uc001iqg.1	Q6UX71	OTTHUMG00000017781	ENST00000377252.4:c.447G>T	chr10.hg19:g.20335920G>T	ENSP00000366460:p.Leu149Phe		Q96E59|Q96PD9|Q96SU9	Missense_Mutation	SNP	ENST00000377252.4	hg19	CCDS7132.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.294191	0.60086	.	.	ENSG00000120594	ENST00000377252;ENST00000377238;ENST00000536022	T	0.78364	-1.17	5.61	0.195	0.15151	.	0.000000	0.85682	D	0.000000	D	0.82499	0.5050	M	0.79343	2.45	0.58432	D	0.999999	D	0.89917	1.0	D	0.71414	0.973	T	0.77335	-0.2626	10	0.87932	D	0	.	2.1328	0.03754	0.1312:0.2504:0.2267:0.3917	.	149	Q6UX71	PXDC2_HUMAN	F	149;12;135	ENSP00000366460:L149F	ENSP00000366446:L12F	L	+	3	2	PLXDC2	20375926	0.996000	0.38824	0.683000	0.30040	0.886000	0.51366	0.297000	0.19101	-0.233000	0.09797	-0.133000	0.14855	TTG		0.373	PLXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047101.2	NM_032812		T	20335920	G	T	20335920	3	4	772	1	0	0	0	0	1	0	0	0	12120	1368	48	4	457	4	PLXDC2	10	20335920	Missense_Mutation	SNP	G	TCGA-P4-A5E7-01A-31D-A28G-10	13121919	20335920	115198827	44	45581											
TET1	80312	hgsc.bcm.edu	37	10	70332130	70332130	+	Missense_Mutation	SNP	T	T	C			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr10:70332130T>C	ENST00000373644.4	+	2	244	c.35T>C	c.(34-36)tTa>tCa	p.L12S		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	12					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CCTTCCAGATTAGTCAGGAAG	0.433																																																0													38	38	38					10																	70332130		2199	4299	6498	SO:0001583	missense	80312			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"leukemia-associated protein with a CXXC domain", "ten-eleven translocation-1"	607790	"CXXC zinc finger 6", "tet oncogene 1"	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.35T>C	chr10.hg19:g.70332130T>C	ENSP00000362748:p.Leu12Ser		Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	hg19	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	T	13.35	2.210522	0.39102	.	.	ENSG00000138336	ENST00000373644	T	0.08458	3.09	5.24	0.299	0.15771	.	4.959980	0.00166	N	0.000012	T	0.06735	0.0172	N	0.19112	0.55	0.23501	N	0.997547	B	0.28512	0.214	B	0.21151	0.033	T	0.37502	-0.9703	10	0.28530	T	0.3	.	9.3061	0.37876	0.0:0.403:0.0:0.597	.	12	Q8NFU7	TET1_HUMAN	S	12	ENSP00000362748:L12S	ENSP00000362748:L12S	L	+	2	0	TET1	70002136	0.998000	0.40836	0.679000	0.29978	0.998000	0.95712	0.421000	0.21280	-0.188000	0.10499	0.460000	0.39030	TTA		0.433	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		C	70332130	T	C	70332130	3	2	772	1	0	0	0	0	1	0	0	0	15774	1764	61	3	37	3	TET1	10	70332130	Missense_Mutation	SNP	T	TCGA-P4-A5E7-01A-31D-A28G-10	49996210	70332130	65202617	45	45582											
PTEN	5728	hgsc.bcm.edu	37	10	89717690	89717690	+	Missense_Mutation	SNP	A	A	G			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr10:89717690A>G	ENST00000371953.3	+	7	2072	c.715A>G	c.(715-717)Atg>Gtg	p.M239V	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	239	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.G165_*404del(1)|p.?(1)|p.R234fs*9(1)|p.K237_Y240>N(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)		AGACAAGTTCATGTACTTTGA	0.418		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	phosphatase and tensin homolog gene		"L, E, M, O"	50	Whole gene deletion(37)|Deletion - Frameshift(10)|Complex - deletion inframe(1)|Deletion - In frame(1)|Unknown(1)	prostate(16)|central_nervous_system(10)|skin(6)|haematopoietic_and_lymphoid_tissue(4)|lung(4)|breast(4)|ovary(3)|urinary_tract(2)|soft_tissue(1)											153	130	138					10																	89717690		2203	4300	6503	SO:0001583	missense	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.715A>G	chr10.hg19:g.89717690A>G	ENSP00000361021:p.Met239Val		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	hg19	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	A	12.58	1.980414	0.34942	.	.	ENSG00000171862	ENST00000371953	D	0.84660	-1.88	5.15	5.15	0.70609	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.038168	0.85682	D	0.000000	T	0.73567	0.3603	N	0.13352	0.335	0.80722	D	1	B	0.06786	0.001	B	0.10450	0.005	T	0.67983	-0.5529	9	.	.	.	-3.0578	14.9657	0.71193	1.0:0.0:0.0:0.0	.	239	P60484	PTEN_HUMAN	V	239	ENSP00000361021:M239V	.	M	+	1	0	PTEN	89707670	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.918000	0.92759	1.928000	0.55862	0.477000	0.44152	ATG		0.418	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		G	89717690	A	G	89717690	3	3	772	1	0	0	0	0	1	0	0	0	12743	217	8	3	741	3	PTEN	10	89717690	Missense_Mutation	SNP	A	TCGA-P4-A5E7-01A-31D-A28G-10	19385560	89717690	45817057	46	45583											
PDZD8	118987	hgsc.bcm.edu	37	10	119043959	119043959	+	Missense_Mutation	SNP	G	G	T			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr10:119043959G>T	ENST00000334464.5	-	5	2524	c.2285C>A	c.(2284-2286)cCt>cAt	p.P762H	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	762					cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|regulation of cell morphogenesis (GO:0022604)|viral process (GO:0016032)	membrane (GO:0016020)	metal ion binding (GO:0046872)			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		TATAGCCTTAGGTGAGGGGGC	0.403																																																0													125	111	116					10																	119043959		2203	4300	6503	SO:0001583	missense	118987			AL122051	CCDS7600.1	10q26.12	2006-01-24		2006-01-24	ENSG00000165650	ENSG00000165650			26974	protein-coding gene	gene with protein product		614235		PDZK8		12477932	Standard	NM_173791		Approved	bA129M16.2, FLJ34427	uc001lde.1	Q8NEN9	OTTHUMG00000019122	ENST00000334464.5:c.2285C>A	chr10.hg19:g.119043959G>T	ENSP00000334642:p.Pro762His		Q86WE0|Q86WE5|Q9UFF1	Missense_Mutation	SNP	ENST00000334464.5	hg19	CCDS7600.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.075899	0.76415	.	.	ENSG00000165650	ENST00000334464	D	0.87256	-2.23	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.90889	0.7137	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90836	0.4720	10	0.59425	D	0.04	-12.5235	20.4116	0.99017	0.0:0.0:1.0:0.0	.	762	Q8NEN9	PDZD8_HUMAN	H	762	ENSP00000334642:P762H	ENSP00000334642:P762H	P	-	2	0	PDZD8	119033949	1.000000	0.71417	0.991000	0.47740	0.986000	0.74619	9.869000	0.99810	2.827000	0.97445	0.655000	0.94253	CCT		0.403	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050565.1	NM_173791		T	119043959	G	T	119043959	3	4	772	1	0	0	0	0	1	0	0	0	11707	1000	35	4	1183	4	PDZD8	10	119043959	Missense_Mutation	SNP	G	TCGA-P4-A5E7-01A-31D-A28G-10	29326269	119043959	16490788	47	45584											
PWWP2B	170394	hgsc.bcm.edu	37	10	134218416	134218416	+	Silent	SNP	C	C	T			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr10:134218416C>T	ENST00000305233.5	+	2	471	c.412C>T	c.(412-414)Ctg>Ttg	p.L138L	PWWP2B_ENST00000368609.4_Silent_p.L138L	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	138	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)		CACGTACAAGCTGTGGGTGCC	0.731																																																0													11	10	10					10																	134218416		1839	3661	5500	SO:0001819	synonymous_variant	170394			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.412C>T	chr10.hg19:g.134218416C>T			A6NM90|B5MDQ1|H9KV61|Q5SZI0|Q6ZQX5|Q96F43	Silent	SNP	ENST00000305233.5	hg19	CCDS7667.2																																																																																				0.731	PWWP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051075.3	NM_138499		T	134218416	C	T	134218416	2	4	772	1	0	0	0	0	0	0	0	1	12852	796	28	2		2	PWWP2B	10	134218416	Silent	SNP	C	TCGA-P4-A5E7-01A-31D-A28G-10	15174457	134218416	1316331	48	45585											
MUC6	4588	hgsc.bcm.edu	37	11	1018068	1018068	+	Missense_Mutation	SNP	G	G	A			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr11:1018068G>A	ENST00000421673.2	-	31	4783	c.4733C>T	c.(4732-4734)cCa>cTa	p.P1578L		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1578	Pro-rich.|Thr-rich.		P -> S (in dbSNP:rs10736904).		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)		CCCTGTAGGTGGGGAGTGTGT	0.582																																																0													259	265	263					11																	1018068		2174	4263	6437	SO:0001583	missense	4588			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.4733C>T	chr11.hg19:g.1018068G>A	ENSP00000406861:p.Pro1578Leu		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	hg19	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	9.977	1.227087	0.22542	.	.	ENSG00000184956	ENST00000421673	T	0.15603	2.41	2.31	1.29	0.21616	.	.	.	.	.	T	0.12689	0.0308	L	0.46157	1.445	0.09310	N	1	B	0.24963	0.115	B	0.19946	0.027	T	0.38520	-0.9657	9	0.10902	T	0.67	.	8.0503	0.30575	0.0:0.0:0.7368:0.2632	.	1578	Q6W4X9	MUC6_HUMAN	L	1578	ENSP00000406861:P1578L	ENSP00000406861:P1578L	P	-	2	0	MUC6	1008068	0.000000	0.05858	0.001000	0.08648	0.150000	0.21749	-0.194000	0.09559	0.226000	0.20979	0.297000	0.19635	CCA		0.582	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		A	1018068	G	A	1018068	3	1	772	1	0	0	0	0	1	0	0	0	9982	1348	47	2	2598	2	MUC6	11	1018068	Missense_Mutation	SNP	G	TCGA-P4-A5E7-01A-31D-A28G-10		1018068	133988448	49	45586											
KRTAP5-4	387267	hgsc.bcm.edu	37	11	1643254	1643254	+	Missense_Mutation	SNP	A	A	G			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr11:1643254A>G	ENST00000399682.1	-	1	114	c.70T>C	c.(70-72)Tgt>Cgt	p.C24R		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)		ccagagccacagcccccacag	0.687																																																0													4	8	7					11																	1643254		641	1519	2160	SO:0001583	missense	387267			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.70T>C	chr11.hg19:g.1643254A>G	ENSP00000382590:p.Cys24Arg			Missense_Mutation	SNP	ENST00000399682.1	hg19		.	.	.	.	.	.	.	.	.	.	A	7.309	0.614523	0.14129	.	.	ENSG00000241598	ENST00000399682;ENST00000328953	T	0.01099	5.34	2.15	2.15	0.27550	.	.	.	.	.	T	0.06234	0.0161	M	0.87971	2.92	0.49389	D	0.999781	D	0.59357	0.985	D	0.70487	0.969	T	0.05273	-1.0895	9	0.56958	D	0.05	.	8.2253	0.31564	1.0:0.0:0.0:0.0	.	24	Q6L8H1	KRA54_HUMAN	R	24	ENSP00000382590:C24R	ENSP00000331603:C24R	C	-	1	0	KRTAP5-4	1599830	0.001000	0.12720	0.930000	0.37139	0.032000	0.12392	-0.060000	0.11712	1.242000	0.43836	0.367000	0.22151	TGT		0.687	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000127918.1	NM_001012709		G	1643254	A	G	1643254	3	3	772	1	0	0	0	0	1	0	0	0	8565	188	7	3	620	3	KRTAP5-4	11	1643254	Missense_Mutation	SNP	A	TCGA-P4-A5E7-01A-31D-A28G-10	625186	1643254	133363262	50	45587											
EEF1G	1937	hgsc.bcm.edu	37	11	62334912	62334912	+	Missense_Mutation	SNP	A	A	C			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr11:62334912A>C	ENST00000329251.4	-	6	741	c.611T>G	c.(610-612)tTg>tGg	p.L204W	MIR3654_ENST00000496634.2_3'UTR|EEF1G_ENST00000378019.3_Missense_Mutation_p.L254W	NM_001404.4	NP_001395.1	P26641	EF1G_HUMAN	eukaryotic translation elongation factor 1 gamma	204	GST C-terminal.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to virus (GO:0009615)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	translation elongation factor activity (GO:0003746)			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CACTTCGCCCAAGACAGCCCG	0.552																																																0													44	41	42					11																	62334912		1926	4135	6061	SO:0001583	missense	1937			X63526	CCDS44626.1	11q12.3	2008-02-05			ENSG00000254772	ENSG00000254772			3213	protein-coding gene	gene with protein product		130593				1598220, 1461723	Standard	NM_001404		Approved	EF1G	uc001ntm.1	P26641	OTTHUMG00000167567	ENST00000329251.4:c.611T>G	chr11.hg19:g.62334912A>C	ENSP00000331901:p.Leu204Trp		B4DTG2|Q6PJ62|Q6PK31|Q96CU2|Q9P196	Missense_Mutation	SNP	ENST00000329251.4	hg19	CCDS44626.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.662133	0.88251	.	.	ENSG00000254772	ENST00000329251;ENST00000378019	T;T	0.21932	1.98;1.98	4.8	4.8	0.61643	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	0.000000	0.64402	D	0.000002	T	0.54159	0.1841	M	0.92459	3.31	0.53005	D	0.999968	D;P	0.89917	1.0;0.905	D;P	0.80764	0.994;0.703	T	0.65487	-0.6156	10	0.72032	D	0.01	.	12.5918	0.56447	1.0:0.0:0.0:0.0	.	254;204	B4DTG2;P26641	.;EF1G_HUMAN	W	204;254	ENSP00000331901:L204W;ENSP00000367258:L254W	ENSP00000331901:L204W	L	-	2	0	EEF1G	62091488	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	8.903000	0.92573	1.928000	0.55862	0.459000	0.35465	TTG		0.552	EEF1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395047.1	NM_001404		C	62334912	A	C	62334912	3	2	772	1	0	0	0	0	1	0	0	0	4930	131	5	5	722	5	EEF1G	11	62334912	Missense_Mutation	SNP	A	TCGA-P4-A5E7-01A-31D-A28G-10	60691658	62334912	72671604	51	45588											
DGAT2	84649	hgsc.bcm.edu	37	11	75509414	75509414	+	Missense_Mutation	SNP	G	G	C	rs145750206		TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr11:75509414G>C	ENST00000228027.7	+	7	1212	c.952G>C	c.(952-954)Ggc>Cgc	p.G318R	DGAT2_ENST00000376262.3_Missense_Mutation_p.G275R|RP11-535A19.1_ENST00000534354.1_RNA	NM_032564.4	NP_115953.2	Q96PD7	DGAT2_HUMAN	diacylglycerol O-acyltransferase 2	318					acylglycerol acyl-chain remodeling (GO:0036155)|cellular lipid metabolic process (GO:0044255)|cellular response to oleic acid (GO:0071400)|cellular triglyceride homeostasis (GO:0035356)|cholesterol homeostasis (GO:0042632)|diacylglycerol metabolic process (GO:0046339)|fat pad development (GO:0060613)|fatty acid homeostasis (GO:0055089)|glycerol metabolic process (GO:0006071)|glycerophospholipid biosynthetic process (GO:0046474)|lipid storage (GO:0019915)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid metabolic process (GO:0006644)|regulation of plasma lipoprotein particle levels (GO:0097006)|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)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)	2-acylglycerol O-acyltransferase activity (GO:0003846)|diacylglycerol O-acyltransferase activity (GO:0004144)|protein homodimerization activity (GO:0042803)|retinol O-fatty-acyltransferase activity (GO:0050252)			endometrium(3)|large_intestine(5)|lung(5)|prostate(2)|skin(2)	17	Ovarian(111;0.103)					CCATGGTCGAGGCCTCTTCTC	0.582																																					Melanoma(35;811 1096 8354 24009 39363)											0													84	72	76					11																	75509414		2200	4293	6493	SO:0001583	missense	84649				CCDS31642.1, CCDS58162.1	11q13.3	2010-06-24	2010-06-24		ENSG00000062282	ENSG00000062282			16940	protein-coding gene	gene with protein product		606983	"diacylglycerol O-acyltransferase homolog 2 (mouse)"			11481335, 14970677	Standard	NM_032564		Approved		uc001oxa.3	Q96PD7	OTTHUMG00000165338	ENST00000228027.7:c.952G>C	chr11.hg19:g.75509414G>C	ENSP00000228027:p.Gly318Arg		A6ND76|Q5U810|Q68CL3|Q68DJ0|Q8NDB7|Q96BS0|Q9BYE5	Missense_Mutation	SNP	ENST00000228027.7	hg19	CCDS31642.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.248066	0.80024	.	.	ENSG00000062282	ENST00000228027;ENST00000376262;ENST00000525612	T;T	0.18960	2.18;2.18	5.59	4.68	0.58851	.	0.090338	0.85682	D	0.000000	T	0.44498	0.1296	M	0.78456	2.415	0.80722	D	1	D;D	0.89917	1.0;0.993	D;D	0.74674	0.984;0.955	T	0.44862	-0.9300	10	0.87932	D	0	-19.5496	9.867	0.41150	0.1582:0.0:0.8418:0.0	.	275;318	Q96PD7-2;Q96PD7	.;DGAT2_HUMAN	R	318;275;272	ENSP00000228027:G318R;ENSP00000365438:G275R	ENSP00000228027:G318R	G	+	1	0	DGAT2	75187062	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.726000	0.68515	1.501000	0.48654	0.655000	0.94253	GGC		0.582	DGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383506.1	NM_032564		C	75509414	G	C	75509414	3	2	772	1	0	0	0	0	1	0	0	0	4460	1000	35	4	978	4	DGAT2	11	75509414	Missense_Mutation	SNP	G	TCGA-P4-A5E7-01A-31D-A28G-10	13174502	75509414	59497102	52	45589											
KLRC3	3823	hgsc.bcm.edu	37	12	10573086	10573086	+	Frame_Shift_Del	DEL	T	T	-			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr12:10573086delT	ENST00000396439.2	-	1	108	c.64delA	c.(64-66)aggfs	p.R22fs	NKG2-E_ENST00000539033.1_Intron|KLRC3_ENST00000381904.2_Frame_Shift_Del_p.R22fs|KLRC3_ENST00000381903.2_Frame_Shift_Del_p.R22fs	NM_002261.2	NP_002252.2	Q07444	NKG2E_HUMAN	killer cell lectin-like receptor subfamily C, member 3	22					cellular defense response (GO:0006968)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						TTAGGTTTCCTTTGCTGCCAC	0.438																																																0													98	96	97					12																	10573086		2203	4297	6500	SO:0001589	frameshift_variant	3823			L14542	CCDS31744.1, CCDS41755.1	12p13	2008-08-05			ENSG00000205810	ENSG00000205810		"Killer cell lectin-like receptors"	6376	protein-coding gene	gene with protein product		602892				9598306	Standard	NM_002261		Approved	NKG2-E	uc001qyi.1	Q07444	OTTHUMG00000167149	ENST00000396439.2:c.64delA	chr12.hg19:g.10573086delT	ENSP00000379716:p.Arg22fs		Q8WXA4|Q96RL0|Q9UP04	Frame_Shift_Del	DEL	ENST00000396439.2	hg19	CCDS41755.1																																																																																				0.438	KLRC3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393471.1	NM_002261		-	10573086	T	-	10573086	7	5	772	1	0	1	0	1	0	0	0	0	8419	1608	56	0	782	0	KLRC3	12	10573086	Frame_Shift_Del	DEL	T	TCGA-P4-A5E7-01A-31D-A28G-10		10573086	123278809	53	45590											
KLRC2	3823	hgsc.bcm.edu	37	12	10588522	10588522	+	Frame_Shift_Del	DEL	T	T	-			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr12:10588522delT	ENST00000539033.1	-	1	78	c.64delA	c.(64-66)aggfs	p.R22fs	KLRC2_ENST00000536833.2_Intron|KLRC2_ENST00000381902.2_Frame_Shift_Del_p.R22fs|KLRC2_ENST00000381901.1_Frame_Shift_Del_p.R22fs																							TTAGGTTTCCTTTGCTGCCGC	0.438																																																0													250	250	250					12																	10588522		2203	4300	6503	SO:0001589	frameshift_variant	3822																														ENST00000539033.1:c.64delA	chr12.hg19:g.10588522delT	ENSP00000437563:p.Arg22fs			Frame_Shift_Del	DEL	ENST00000539033.1	hg19																																																																																					0.438	NKG2-E-001	KNOWN	basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000400274.1			-	10588522	T	-	10588522	7	5	772	1	0	1	0	1	0	0	0	0	8418	1608	56	0	655	0	KLRC2	12	10588522	Frame_Shift_Del	DEL	T	TCGA-P4-A5E7-01A-31D-A28G-10	15436	10588522	123263373	54	45591											
DENND5B	160518	hgsc.bcm.edu	37	12	31551284	31551284	+	Silent	SNP	C	C	T			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr12:31551284C>T	ENST00000389082.5	-	17	3345	c.3081G>A	c.(3079-3081)ggG>ggA	p.G1027G	DENND5B_ENST00000536562.1_Silent_p.G1062G|RNU6-618P_ENST00000363518.1_RNA|DENND5B_ENST00000306833.6_Silent_p.G1062G	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	1027	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				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						CCAGCCACCGCCCACATGGGA	0.453																																																0													45	41	42					12																	31551284		1778	3993	5771	SO:0001819	synonymous_variant	160518			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.3081G>A	chr12.hg19:g.31551284C>T			B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Silent	SNP	ENST00000389082.5	hg19	CCDS44857.1																																																																																				0.453	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1	NM_144973		T	31551284	C	T	31551284	2	4	772	1	0	0	0	0	0	0	0	1	4439	726	26	2		2	DENND5B	12	31551284	Silent	SNP	C	TCGA-P4-A5E7-01A-31D-A28G-10	20962762	31551284	102300611	55	45592											
PRPH	5630	hgsc.bcm.edu	37	12	49689459	49689459	+	Missense_Mutation	SNP	G	G	A			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr12:49689459G>A	ENST00000257860.4	+	1	1975	c.476G>A	c.(475-477)gGc>gAc	p.G159D	RP11-161H23.9_ENST00000553259.1_RNA	NM_006262.3	NP_006253.2	P23942	PRPH2_HUMAN	peripherin	0					cell adhesion (GO:0007155)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(8)|skin(1)	12						GAGCTGTTGGGCCGCGAGCGT	0.766																																																0													2	3	3					12																	49689459		1611	3196	4807	SO:0001583	missense	5630				CCDS8783.1	12q12-q13	2013-01-16						"Intermediate filaments type III"	9461	protein-coding gene	gene with protein product		170710		NEF4		1378416	Standard	XM_005269025		Approved	PRPH1	uc001rtu.3	P41219		ENST00000257860.4:c.476G>A	chr12.hg19:g.49689459G>A	ENSP00000257860:p.Gly159Asp		Q5TFH5|Q6DK65	Missense_Mutation	SNP	ENST00000257860.4	hg19	CCDS8783.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.422107	0.62622	.	.	ENSG00000135406	ENST00000257860;ENST00000451891	D	0.88741	-2.42	4.51	2.61	0.31194	Filament (1);	0.000000	0.40554	N	0.001080	D	0.89022	0.6597	L	0.58669	1.825	0.46096	D	0.998869	P	0.46987	0.888	P	0.52109	0.69	D	0.84585	0.0663	10	0.18710	T	0.47	.	12.3528	0.55157	0.0:0.3262:0.6738:0.0	.	159	P41219	PERI_HUMAN	D	159;46	ENSP00000257860:G159D	ENSP00000257860:G159D	G	+	2	0	PRPH	47975726	0.835000	0.29415	0.999000	0.59377	0.608000	0.37181	1.757000	0.38400	0.501000	0.28013	0.462000	0.41574	GGC		0.766	PRPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393381.1	NM_006262		A	49689459	G	A	49689459	3	1	772	1	0	0	0	0	1	0	0	0	12581	1203	42	2	478	2	PRPH	12	49689459	Missense_Mutation	SNP	G	TCGA-P4-A5E7-01A-31D-A28G-10	18138175	49689459	84162436	56	45593											
KRT2	3849	hgsc.bcm.edu	37	12	53045499	53045499	+	Missense_Mutation	SNP	G	G	C			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr12:53045499G>C	ENST00000309680.3	-	1	449	c.428C>G	c.(427-429)cCt>cGt	p.P143R		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	143	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)		GTATCCTCCAGGCCCAAAGCC	0.597																																																0													82	83	83					12																	53045499		2203	4300	6503	SO:0001583	missense	3849				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.428C>G	chr12.hg19:g.53045499G>C	ENSP00000310861:p.Pro143Arg		Q4VAQ2	Missense_Mutation	SNP	ENST00000309680.3	hg19	CCDS8835.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.938619	0.52972	.	.	ENSG00000172867	ENST00000309680	D	0.85556	-2.0	5.54	5.54	0.83059	.	.	.	.	.	D	0.92296	0.7556	M	0.83603	2.65	0.38710	D	0.953191	D	0.76494	0.999	D	0.69307	0.963	D	0.93716	0.7028	9	0.87932	D	0	.	15.3671	0.74531	0.0:0.0:1.0:0.0	.	143	P35908	K22E_HUMAN	R	143	ENSP00000310861:P143R	ENSP00000310861:P143R	P	-	2	0	KRT2	51331766	0.164000	0.22935	0.998000	0.56505	0.983000	0.72400	-0.229000	0.09098	2.791000	0.96007	0.655000	0.94253	CCT		0.597	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	NM_000423		C	53045499	G	C	53045499	3	2	772	1	0	0	0	0	1	0	0	0	8459	1000	35	4	1527	4	KRT2	12	53045499	Missense_Mutation	SNP	G	TCGA-P4-A5E7-01A-31D-A28G-10	3356040	53045499	80806396	57	45594											
MDM1	56890	hgsc.bcm.edu	37	12	68696605	68696605	+	Silent	SNP	T	T	A			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr12:68696605T>A	ENST00000303145.7	-	12	1853	c.1767A>T	c.(1765-1767)atA>atT	p.I589I	MDM1_ENST00000411698.2_Silent_p.I554I|MDM1_ENST00000540418.1_Silent_p.I309I	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	589					retina development in camera-type eye (GO:0060041)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		CAACTGTTTTTATACCAGCAG	0.358																																																0													90	92	91					12																	68696605		2203	4300	6503	SO:0001819	synonymous_variant	56890			AF007130	CCDS8983.1, CCDS44938.1, CCDS55841.1, CCDS55842.1	12q15	2008-04-14	2008-04-14			ENSG00000111554			29917	protein-coding gene	gene with protein product		613813	"Mdm4, transformed 3T3 cell double minute 1, p53 binding protein (mouse)"			8619474, 9110174	Standard	NM_017440		Approved		uc001stz.2	Q8TC05		ENST00000303145.7:c.1767A>T	chr12.hg19:g.68696605T>A			B4DM65|E7EPQ3|O43406|Q8WTV9|Q9NR04	Silent	SNP	ENST00000303145.7	hg19	CCDS8983.1																																																																																				0.358	MDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402402.1	NM_020128		A	68696605	T	A	68696605	2	1	772	1	0	0	0	0	0	0	0	1	9414	1744	61	5		5	MDM1	12	68696605	Silent	SNP	T	TCGA-P4-A5E7-01A-31D-A28G-10	15651106	68696605	65155290	58	45595											
SRRM4	84530	hgsc.bcm.edu	37	12	119583229	119583229	+	Missense_Mutation	SNP	C	C	A			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr12:119583229C>A	ENST00000267260.4	+	9	1203	c.815C>A	c.(814-816)gCc>gAc	p.A272D		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	272	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						ACCAAAACAGCCAGCCCGCTC	0.597																																																0													27	29	29					12																	119583229		1987	4156	6143	SO:0001583	missense	84530			AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"neural-specific SR-related protein of 100 kDa"	613103	"KIAA1853"	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.815C>A	chr12.hg19:g.119583229C>A	ENSP00000267260:p.Ala272Asp		A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Missense_Mutation	SNP	ENST00000267260.4	hg19	CCDS44994.1	.	.	.	.	.	.	.	.	.	.	C	14.09	2.431158	0.43122	.	.	ENSG00000139767	ENST00000267260	T	0.23147	1.92	5.48	3.26	0.37387	.	0.608931	0.17277	N	0.180174	T	0.16854	0.0405	L	0.40543	1.245	0.33704	D	0.614946	B	0.12013	0.005	B	0.09377	0.004	T	0.13469	-1.0508	9	.	.	.	-16.4361	4.1827	0.10383	0.2661:0.5295:0.1154:0.089	.	272	A7MD48	SRRM4_HUMAN	D	272	ENSP00000267260:A272D	.	A	+	2	0	SRRM4	118067612	0.997000	0.39634	1.000000	0.80357	0.996000	0.88848	1.389000	0.34453	1.274000	0.44362	0.655000	0.94253	GCC		0.597	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	NM_194286		A	119583229	C	A	119583229	3	1	772	1	0	0	0	0	1	0	0	0	15176	739	26	4	849	4	SRRM4	12	119583229	Missense_Mutation	SNP	C	TCGA-P4-A5E7-01A-31D-A28G-10	50886624	119583229	14268666	59	45596											
RABGGTA	5875	hgsc.bcm.edu	37	14	24734893	24734893	+	Silent	SNP	C	C	T	rs369935041		TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr14:24734893C>T	ENST00000399409.3	-	16	2115	c.1632G>A	c.(1630-1632)ccG>ccA	p.P544P	RABGGTA_ENST00000560777.1_Silent_p.P153P|TGM1_ENST00000544573.1_5'Flank|TGM1_ENST00000206765.6_5'Flank|RABGGTA_ENST00000216840.6_Silent_p.P544P	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit	544					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)		CTTGGCACAGCGGGTTACCCT	0.612																																																0								C	,	0,4034		0,0,2017	38	42	41		1632,1632	-4.9	0.9	14		41	1,8365		0,1,4182	no	coding-synonymous,coding-synonymous	RABGGTA	NM_004581.3,NM_182836.1	,	0,1,6199	TT,TC,CC		0.012,0.0,0.0081	,	544/568,544/568	24734893	1,12399	2017	4183	6200	SO:0001819	synonymous_variant	5875				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.1632G>A	chr14.hg19:g.24734893C>T			A8K5N2|D3DS69	Silent	SNP	ENST00000399409.3	hg19	CCDS45088.1																																																																																				0.612	RABGGTA-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415308.5	NM_182836		T	24734893	C	T	24734893	2	4	772	1	0	0	0	0	0	0	0	1	12973	755	27	1		1	RABGGTA	14	24734893	Silent	SNP	C	TCGA-P4-A5E7-01A-31D-A28G-10		24734893	82614647	60	45597											
RALGAPA1	253959	hgsc.bcm.edu	37	14	36143779	36143779	+	Silent	SNP	A	A	C			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr14:36143779A>C	ENST00000389698.3	-	22	3633	c.3243T>G	c.(3241-3243)ccT>ccG	p.P1081P	RALGAPA1_ENST00000382366.3_Silent_p.P1094P|RALGAPA1_ENST00000258840.6_Silent_p.P1128P|RALGAPA1_ENST00000307138.6_Silent_p.P1081P	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1081					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						CATGTATTTCAGGATCCATGA	0.388																																																0													26	27	27					14																	36143779		2201	4288	6489	SO:0001819	synonymous_variant	253959			AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"tuberin-like protein 1", "GAP-related interacting protein to E12"	608884	"GTPase activating RANGAP domain-like 1", "GTPase activating Rap/RanGAP domain-like 1"	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.3243T>G	chr14.hg19:g.36143779A>C			A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Silent	SNP	ENST00000389698.3	hg19	CCDS32065.1																																																																																				0.388	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		C	36143779	A	C	36143779	2	2	772	1	0	0	0	0	0	0	0	1	13019	175	7	5		5	RALGAPA1	14	36143779	Silent	SNP	A	TCGA-P4-A5E7-01A-31D-A28G-10	11408886	36143779	71205761	61	45598											
TTLL5	23093	hgsc.bcm.edu	37	14	76243163	76243163	+	Frame_Shift_Del	DEL	A	A	-	rs372279209		TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr14:76243163delA	ENST00000298832.9	+	23	2562	c.2357delA	c.(2356-2358)gaafs	p.E786fs	TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000556893.1_Frame_Shift_Del_p.E337fs|TTLL5_ENST00000554510.1_Frame_Shift_Del_p.E295fs|TTLL5_ENST00000557636.1_Frame_Shift_Del_p.E800fs	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	786					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)		GTGAATATGGAAAACTTTCAG	0.403																																																0													130	127	128					14																	76243163		2203	4300	6503	SO:0001589	frameshift_variant	23093			AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"Tubulin tyrosine ligase-like family"	19963	protein-coding gene	gene with protein product		612268	"KIAA0998"	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.2357delA	chr14.hg19:g.76243163delA	ENSP00000298832:p.Glu786fs		B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Frame_Shift_Del	DEL	ENST00000298832.9	hg19	CCDS32124.1																																																																																				0.403	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414453.1	NM_015072		-	76243163	A	-	76243163	7	5	772	1	0	1	0	1	0	0	0	0	16735	246	9	0	2443	0	TTLL5	14	76243163	Frame_Shift_Del	DEL	A	TCGA-P4-A5E7-01A-31D-A28G-10	40099384	76243163	31106377	62	45599											
C15orf2	23742	hgsc.bcm.edu	37	15	24923342	24923342	+	Silent	SNP	C	C	T			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr15:24923342C>T	ENST00000329468.2	+	1	2802	c.2328C>T	c.(2326-2328)gcC>gcT	p.A776A		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	776					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)		p.A776A(1)									AATTTGGGGCCCCTGATGGGC	0.552																																																1	Substitution - coding silent(1)	lung(1)											109	128	121					15																	24923342		2203	4300	6503	SO:0001819	synonymous_variant	23742			AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"chromosome 15 open reading frame 2"	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.2328C>T	chr15.hg19:g.24923342C>T				Silent	SNP	ENST00000329468.2	hg19	CCDS10015.1																																																																																				0.552	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		T	24923342	C	T	24923342	2	4	772	1	0	0	0	0	0	0	0	1	1786	610	22	2		2	C15orf2	15	24923342	Silent	SNP	C	TCGA-P4-A5E7-01A-31D-A28G-10		24923342	77608050	63	45600											
ZNF75A	7627	hgsc.bcm.edu	37	16	3363138	3363138	+	Missense_Mutation	SNP	T	T	A			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr16:3363138T>A	ENST00000574298.1	+	4	536	c.63T>A	c.(61-63)gaT>gaA	p.D21E	ZNF75A_ENST00000498240.2_Intron	NM_153028.2	NP_694573.1	Q96N20	ZN75A_HUMAN	zinc finger protein 75a	21	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|large_intestine(3)|lung(7)|prostate(1)	12						TCTACAATGATGTAATGCAGG	0.408																																																0													131	118	122					16																	3363138		2197	4300	6497	SO:0001583	missense	7627			X91826	CCDS10501.1	16p13.11	2013-01-08			ENSG00000162086	ENSG00000162086		"Zinc fingers, C2H2-type", "-"	13146	protein-coding gene	gene with protein product		601473				8661144	Standard	NM_153028		Approved	FLJ31529	uc002cut.4	Q96N20	OTTHUMG00000129356	ENST00000574298.1:c.63T>A	chr16.hg19:g.3363138T>A	ENSP00000459566:p.Asp21Glu		Q0VDI8|Q92669	Missense_Mutation	SNP	ENST00000574298.1	hg19	CCDS10501.1	.	.	.	.	.	.	.	.	.	.	T	14.16	2.452955	0.43531	.	.	ENSG00000162086	ENST00000293995	.	.	.	3.48	1.13	0.20643	Krueppel-associated box (4);	.	.	.	.	T	0.40694	0.1127	L	0.42487	1.325	0.80722	D	1	B	0.16603	0.018	B	0.16722	0.016	T	0.12760	-1.0535	8	0.22706	T	0.39	.	2.7142	0.05183	0.1927:0.2235:0.0:0.5838	.	21	Q96N20	ZN75A_HUMAN	E	21	.	ENSP00000293995:D21E	D	+	3	2	ZNF75A	3303139	0.292000	0.24362	0.996000	0.52242	0.996000	0.88848	-0.885000	0.04161	0.207000	0.20607	0.379000	0.24179	GAT		0.408	ZNF75A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251506.2	NM_153028		A	3363138	T	A	3363138	3	1	772	1	0	0	0	0	1	0	0	0	18138	1461	51	5	65	5	ZNF75A	16	3363138	Missense_Mutation	SNP	T	TCGA-P4-A5E7-01A-31D-A28G-10		3363138	86991615	64	45601											
LOC81691	81691	hgsc.bcm.edu	37	16	20851720	20851720	+	Frame_Shift_Del	DEL	G	G	-			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr16:20851720delG	ENST00000261377.6	+	15	1765	c.1556delG	c.(1555-1557)aggfs	p.R519fs	ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000564274.1_Frame_Shift_Del_p.R519fs|AC004381.6_ENST00000348433.6_Frame_Shift_Del_p.R519fs	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2																					TGCAATCTCAGGGCTCTGAAG	0.408																																																0													113	115	115					16																	20851720		2201	4300	6501	SO:0001589	frameshift_variant	0																														ENST00000261377.6:c.1556delG	chr16.hg19:g.20851720delG	ENSP00000261377:p.Arg519fs			Frame_Shift_Del	DEL	ENST00000261377.6	hg19	CCDS10591.1																																																																																				0.408	AC004381.6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254418.2			-	20851720	G	-	20851720	7	5	772	1	0	1	0	1	0	0	0	0	8892	1000	35	0	1610	0	LOC81691	16	20851720	Frame_Shift_Del	DEL	G	TCGA-P4-A5E7-01A-31D-A28G-10	17488582	20851720	69503033	65	45602											
ACADVL	37	hgsc.bcm.edu	37	17	7127679	7127679	+	Silent	SNP	T	T	C			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr17:7127679T>C	ENST00000356839.5	+	16	1751	c.1572T>C	c.(1570-1572)ctT>ctC	p.L524L	ACADVL_ENST00000543245.2_Silent_p.L547L|MIR324_ENST00000362183.1_RNA|ACADVL_ENST00000350303.5_Silent_p.L502L	NM_000018.3|NM_001270448.1	NP_000009.1|NP_001257377.1	P49748	ACADV_HUMAN	acyl-CoA dehydrogenase, very long chain	524					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						TCAGCGGACTTGTCCACCCGG	0.657																																																0													54	54	54					17																	7127679		2203	4300	6503	SO:0001819	synonymous_variant	37			BC012912	CCDS11090.1, CCDS42249.1, CCDS58509.1	17p13.1	2010-04-30	2010-04-30		ENSG00000072778	ENSG00000072778			92	protein-coding gene	gene with protein product		609575	"acyl-Coenzyme A dehydrogenase, very long chain"			8921384	Standard	NM_000018		Approved	VLCAD, LCACD, ACAD6	uc002gev.4	P49748	OTTHUMG00000102157	ENST00000356839.5:c.1572T>C	chr17.hg19:g.7127679T>C			B4DEB6|F5H2A9|O76056|Q8WUL0	Silent	SNP	ENST00000356839.5	hg19	CCDS11090.1																																																																																				0.657	ACADVL-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220001.5	NM_000018		C	7127679	T	C	7127679	2	2	772	1	0	0	0	0	0	0	0	1	116	1799	63	3		3	ACADVL	17	7127679	Silent	SNP	T	TCGA-P4-A5E7-01A-31D-A28G-10		7127679	74067531	66	45603											
POLR2A	5430	hgsc.bcm.edu	37	17	7405000	7405000	+	Silent	SNP	G	G	A			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr17:7405000G>A	ENST00000322644.6	+	14	2700	c.2301G>A	c.(2299-2301)aaG>aaA	p.K767K		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	767					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)				ATAACTTCAAGTCTATGGTCG	0.488																																																0													71	67	68					17																	7405000		2203	4300	6503	SO:0001819	synonymous_variant	5430					17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"RNA polymerase subunits"	9187	protein-coding gene	gene with protein product	"DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit", "RNA polymerase II subunit B1"	180660	"polymerase (RNA) II (DNA directed) polypeptide A (220kD)"	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.2301G>A	chr17.hg19:g.7405000G>A			A6NN93|B9EH88|Q6NX41	Silent	SNP	ENST00000322644.6	hg19	CCDS32548.1																																																																																				0.488	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		A	7405000	G	A	7405000	2	1	772	1	0	0	0	0	0	0	0	1	12216	1020	36	2		2	POLR2A	17	7405000	Silent	SNP	G	TCGA-P4-A5E7-01A-31D-A28G-10	277321	7405000	73790210	67	45604											
GPR179	440435	hgsc.bcm.edu	37	17	36492994	36492994	+	Missense_Mutation	SNP	C	C	T			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr17:36492994C>T	ENST00000342292.4	-	4	1114	c.1094G>A	c.(1093-1095)aGc>aAc	p.S365N		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	365					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)				ATCCATGCAGCTGGTGCAGCC	0.632																																																0													27	31	29					17																	36492994		2097	4237	6334	SO:0001583	missense	440435				CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"GPCR / Class C : Orphans"	31371	protein-coding gene	gene with protein product		614515	"GPR158-like 1", "GPR179"	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.1094G>A	chr17.hg19:g.36492994C>T	ENSP00000345060:p.Ser365Asn			Missense_Mutation	SNP	ENST00000342292.4	hg19	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.554853	0.65425	.	.	ENSG00000188888	ENST00000342292	T	0.52295	0.67	5.19	4.2	0.49525	.	0.000000	0.85682	D	0.000000	T	0.36248	0.0960	L	0.46157	1.445	0.32221	N	0.57526	B	0.34290	0.447	B	0.32149	0.141	T	0.46331	-0.9199	10	0.37606	T	0.19	-10.9887	7.967	0.30104	0.0:0.6539:0.2598:0.0863	.	365	Q6PRD1	GP179_HUMAN	N	365	ENSP00000345060:S365N	ENSP00000345060:S365N	S	-	2	0	GPR179	33746520	0.669000	0.27502	0.999000	0.59377	0.940000	0.58332	0.856000	0.27818	2.709000	0.92574	0.561000	0.74099	AGC		0.632	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			T	36492994	C	T	36492994	3	4	772	1	0	0	0	0	1	0	0	0	6676	797	28	2	6041	2	GPR179	17	36492994	Missense_Mutation	SNP	C	TCGA-P4-A5E7-01A-31D-A28G-10	29087994	36492994	44702216	68	45605											
GPATCH8	23131	hgsc.bcm.edu	37	17	42475173	42475176	+	Frame_Shift_Del	DEL	TGAG	TGAG	-			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	TGAG	TGAG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr17:42475173_42475176delTGAG	ENST00000591680.1	-	8	4299_4302	c.4269_4272delCTCA	c.(4267-4272)cactcafs	p.HS1423fs	GPATCH8_ENST00000434000.1_Frame_Shift_Del_p.HS1345fs	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1423							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		CAGGGATGATTGAGTGAGTGAGGT	0.588																																																0																																										SO:0001589	frameshift_variant	23131			AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"G patch domain containing"	29066	protein-coding gene	gene with protein product		614396	"KIAA0553"	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.4269_4272delCTCA	chr17.hg19:g.42475181_42475184delTGAG	ENSP00000467556:p.His1423fs		B9EGP9|O60300|Q8TB99	Frame_Shift_Del	DEL	ENST00000591680.1	hg19	CCDS32666.1																																																																																				0.588	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909		-	42475176	TGAG	-	42475173	7	5	772	1	0	1	0	1	0	0	0	0	6596	1799	63	0	240	0	GPATCH8	17	42475173	Frame_Shift_Del	DEL	TGAG	TCGA-P4-A5E7-01A-31D-A28G-10	5982179	42475173	38720037	69	45606											
OTOP3	347741	hgsc.bcm.edu	37	17	72942796	72942796	+	Silent	SNP	G	G	A	rs200903740		TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr17:72942796G>A	ENST00000328801.4	+	6	846	c.846G>A	c.(844-846)gcG>gcA	p.A282A		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	282						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)					ATGCCACCGCGTGTGAAGCTT	0.567																																																0								G		0,4406		0,0,2203	132	125	127		846	2.1	0.1	17		127	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	OTOP3	NM_178233.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		282/597	72942796	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	347741			BK000568	CCDS11709.1	17q25	2004-01-19				ENSG00000182938			19658	protein-coding gene	gene with protein product		607828				12651873	Standard	NM_178233		Approved		uc010wrr.3	Q7RTS5		ENST00000328801.4:c.846G>A	chr17.hg19:g.72942796G>A				Silent	SNP	ENST00000328801.4	hg19	CCDS11709.1																																																																																				0.567	OTOP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445308.1	NM_178233		A	72942796	G	A	72942796	2	1	772	1	0	0	0	0	0	0	0	1	11309	1132	40	1		1	OTOP3	17	72942796	Silent	SNP	G	TCGA-P4-A5E7-01A-31D-A28G-10	30467623	72942796	8252414	70	45607											
HMHA1	23526	hgsc.bcm.edu	37	19	1081736	1081736	+	Splice_Site	SNP	A	A	C			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr19:1081736A>C	ENST00000313093.2	+	18	2609	c.2378A>C	c.(2377-2379)aAg>aCg	p.K793T	HMHA1_ENST00000536472.1_Splice_Site_p.K661T|HMHA1_ENST00000539243.2_Splice_Site_p.K809T|HMHA1_ENST00000590214.1_Splice_Site_p.K820T|HMHA1_ENST00000543365.1_Splice_Site_p.K676T|HMHA1_ENST00000590577.1_Splice_Site_p.K428T|HMHA1_ENST00000586866.1_Splice_Site_p.K797T	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	793	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)|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)		CTGCGCACCAAGGTGAGGCGG	0.731																																																0													6	7	7					19																	1081736		2129	4218	6347	SO:0001630	splice_region_variant	23526			D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"Rho GTPase activating proteins"	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.2379+1A>C	chr19.hg19:g.1081736A>C			B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Missense_Mutation	SNP	ENST00000313093.2	hg19	CCDS32863.1	.	.	.	.	.	.	.	.	.	.	a	22.3	4.273106	0.80580	.	.	ENSG00000180448	ENST00000539243;ENST00000313093;ENST00000544746;ENST00000536472;ENST00000412039;ENST00000543365	T;T;T;T	0.23147	1.92;1.92;1.92;1.92	4.55	4.55	0.56014	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.43787	0.1263	L	0.49455	1.56	0.58432	D	0.999996	D;D;D;D;D	0.69078	0.997;0.993;0.996;0.993;0.995	D;D;D;P;D	0.74674	0.928;0.945;0.984;0.892;0.967	T	0.40421	-0.9564	10	0.87932	D	0	-45.2741	13.1017	0.59224	1.0:0.0:0.0:0.0	.	661;809;428;676;793	F5H4A3;F6QP70;B3KVA9;F5H1R4;Q92619	.;.;.;.;HMHA1_HUMAN	T	809;793;793;661;787;676	ENSP00000439601:K809T;ENSP00000316772:K793T;ENSP00000445109:K661T;ENSP00000438979:K676T	ENSP00000316772:K793T	K	+	2	0	HMHA1	1032736	1.000000	0.71417	1.000000	0.80357	0.579000	0.36224	8.654000	0.91092	1.684000	0.51022	0.449000	0.29647	AAG		0.731	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1		Missense_Mutation	C	1081736	A	C	1081736	5	2	772	1	0	0	0	0	0	0	1	0	7242	86	3	5	2448	5	HMHA1	19	1081736	Splice_Site	SNP	A	TCGA-P4-A5E7-01A-31D-A28G-10		1081736	58047247	71	45608											
EVI5L	115704	hgsc.bcm.edu	37	19	7917990	7917990	+	Missense_Mutation	SNP	C	C	G			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr19:7917990C>G	ENST00000270530.4	+	9	1202	c.1006C>G	c.(1006-1008)Ccc>Gcc	p.P336A	EVI5L_ENST00000538904.2_Missense_Mutation_p.P336A	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	336					negative regulation of cilium assembly (GO:1902018)|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)			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						GAGAGTGATCCCCCACCAGTT	0.627											OREG0025211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													123	122	123					19																	7917990		2203	4300	6503	SO:0001583	missense	115704			BC014111	CCDS12188.1, CCDS54209.1	19p13	2013-07-09				ENSG00000142459			30464	protein-coding gene	gene with protein product						23669355	Standard	NM_001159944		Approved		uc010xjz.2	Q96CN4		ENST00000270530.4:c.1006C>G	chr19.hg19:g.7917990C>G	ENSP00000270530:p.Pro336Ala	645	B9A6I9	Missense_Mutation	SNP	ENST00000270530.4	hg19	CCDS12188.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.277895	0.80692	.	.	ENSG00000142459	ENST00000270530;ENST00000538904	T;T	0.23147	1.92;1.92	3.8	3.8	0.43715	Rab-GAP/TBC domain (1);	0.000000	0.85682	D	0.000000	T	0.46639	0.1403	M	0.64567	1.98	0.58432	D	0.999999	D;P	0.89917	1.0;0.951	D;P	0.91635	0.999;0.727	T	0.47497	-0.9113	10	0.59425	D	0.04	-42.9871	13.5149	0.61535	0.0:1.0:0.0:0.0	.	336;336	B9A6I9;Q96CN4	.;EVI5L_HUMAN	A	336	ENSP00000270530:P336A;ENSP00000445905:P336A	ENSP00000270530:P336A	P	+	1	0	EVI5L	7823990	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.584000	0.82572	2.124000	0.65301	0.462000	0.41574	CCC		0.627	EVI5L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461347.1	NM_145245		G	7917990	C	G	7917990	3	3	772	1	0	0	0	0	1	0	0	0	5292	623	22	4	1036	4	EVI5L	19	7917990	Missense_Mutation	SNP	C	TCGA-P4-A5E7-01A-31D-A28G-10	6836254	7917990	51210993	72	45609											
HOOK2	29911	hgsc.bcm.edu	37	19	12874398	12874398	+	Frame_Shift_Del	DEL	T	T	-			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr19:12874398delT	ENST00000397668.3	-	22	2027	c.1954delA	c.(1954-1956)agcfs	p.S652fs	HOOK2_ENST00000589965.1_5'Flank|HOOK2_ENST00000264827.5_Frame_Shift_Del_p.S650fs	NM_013312.2	NP_037444.2	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	652	Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with CNTRL.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	centrosome (GO:0005813)|FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						TGACTTCGGCTTTTCTCAAAG	0.522																																																0													185	194	191					19																	12874398		2203	4300	6503	SO:0001589	frameshift_variant	29911			AF044924	CCDS42507.1, CCDS42508.1	19p13.2	2013-08-21	2013-08-21						19885	protein-coding gene	gene with protein product		607824	"hook homolog 2 (Drosophila)"			9927460	Standard	NM_013312		Approved	HK2	uc002muy.2	Q96ED9		ENST00000397668.3:c.1954delA	chr19.hg19:g.12874398delT	ENSP00000380785:p.Ser652fs		O60562	Frame_Shift_Del	DEL	ENST00000397668.3	hg19	CCDS42508.1																																																																																				0.522	HOOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451008.1	NM_013312		-	12874398	T	-	12874398	7	5	772	1	0	1	0	1	0	0	0	0	7285	1609	56	0	213	0	HOOK2	19	12874398	Frame_Shift_Del	DEL	T	TCGA-P4-A5E7-01A-31D-A28G-10	4956408	12874398	46254585	73	45610											
PGLYRP2	114770	hgsc.bcm.edu	37	19	15582776	15582776	+	Missense_Mutation	SNP	G	G	A			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr19:15582776G>A	ENST00000340880.4	-	3	1748	c.1268C>T	c.(1267-1269)aCg>aTg	p.T423M	PGLYRP2_ENST00000292609.4_Missense_Mutation_p.T423M	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	423					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						TGCGCAGCGCGTGAAGTCCGT	0.672																																																0													63	53	56					19																	15582776		2203	4300	6503	SO:0001583	missense	114770			AY358156	CCDS12330.2	19p13.12	2010-04-27			ENSG00000161031	ENSG00000161031	3.5.1.28		30013	protein-coding gene	gene with protein product	"peptidoglycan recognition protein L precursor", "peptidoglycan recognition protein-like", "N-acetylmuramoyl-L-alanine amidase"	608199				11461926, 12669421, 14506276	Standard	NM_052890		Approved	PGRP-L, PGLYRPL, TAGL-like, tagL, tagL-alpha, tagl-beta, PGRPL	uc002nbf.4	Q96PD5	OTTHUMG00000150690	ENST00000340880.4:c.1268C>T	chr19.hg19:g.15582776G>A	ENSP00000345968:p.Thr423Met		A8K050|A8K8C7|B2RMZ2|B7ZM33|Q68CK1|Q96N74|Q9UC60	Missense_Mutation	SNP	ENST00000340880.4	hg19	CCDS12330.2	.	.	.	.	.	.	.	.	.	.	G	6.484	0.457468	0.12342	.	.	ENSG00000161031	ENST00000340880;ENST00000292609	T;T	0.14391	2.51;2.51	4.62	-7.33	0.01431	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (4);	2.474620	0.01368	N	0.012465	T	0.17704	0.0425	L	0.60455	1.87	0.09310	N	1	P;P	0.52316	0.952;0.889	P;P	0.49597	0.616;0.505	T	0.48068	-0.9067	10	0.52906	T	0.07	-14.711	4.6458	0.12572	0.0767:0.2083:0.1616:0.5534	.	423;423	Q96PD5-2;Q96PD5	.;PGRP2_HUMAN	M	423	ENSP00000345968:T423M;ENSP00000292609:T423M	ENSP00000292609:T423M	T	-	2	0	PGLYRP2	15443776	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.143000	0.10296	-1.075000	0.03129	-1.001000	0.02504	ACG		0.672	PGLYRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319626.1	NM_052890		A	15582776	G	A	15582776	3	1	772	1	0	0	0	0	1	0	0	0	11796	1145	40	1	474	1	PGLYRP2	19	15582776	Missense_Mutation	SNP	G	TCGA-P4-A5E7-01A-31D-A28G-10	2708378	15582776	43546207	74	45611											
TMEM38A	79041	hgsc.bcm.edu	37	19	16793291	16793291	+	Missense_Mutation	SNP	G	G	C			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr19:16793291G>C	ENST00000187762.2	+	4	617	c.526G>C	c.(526-528)Gag>Cag	p.E176Q		NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	176						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|sarcoplasmic reticulum membrane (GO:0033017)	potassium channel activity (GO:0005267)			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						CTGGAAGCCAGAGACCAACGA	0.582																																																0													149	123	132					19																	16793291		2203	4300	6503	SO:0001583	missense	79041			AK025981	CCDS12349.1	19p13.11	2013-05-23				ENSG00000072954			28462	protein-coding gene	gene with protein product		611235				17611541	Standard	NM_024074		Approved	MGC3169, TRIC-A	uc002nes.3	Q9H6F2		ENST00000187762.2:c.526G>C	chr19.hg19:g.16793291G>C	ENSP00000187762:p.Glu176Gln		A8K9P9	Missense_Mutation	SNP	ENST00000187762.2	hg19	CCDS12349.1	.	.	.	.	.	.	.	.	.	.	g	24.0	4.482621	0.84747	.	.	ENSG00000072954	ENST00000187762	.	.	.	5.38	4.35	0.52113	.	0.053986	0.64402	D	0.000001	T	0.72835	0.3510	M	0.71206	2.165	0.58432	D	0.999998	D	0.57571	0.98	P	0.58130	0.833	T	0.74325	-0.3702	9	0.46703	T	0.11	-30.6059	13.1225	0.59336	0.077:0.0:0.923:0.0	.	176	Q9H6F2	TM38A_HUMAN	Q	176	.	ENSP00000187762:E176Q	E	+	1	0	TMEM38A	16654291	1.000000	0.71417	0.674000	0.29902	0.978000	0.69477	7.723000	0.84788	1.258000	0.44101	0.655000	0.94253	GAG		0.582	TMEM38A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462841.1	NM_024074		C	16793291	G	C	16793291	3	2	772	1	0	0	0	0	1	0	0	0	16164	943	33	4	540	4	TMEM38A	19	16793291	Missense_Mutation	SNP	G	TCGA-P4-A5E7-01A-31D-A28G-10	1210515	16793291	42335692	75	45612											
C19orf62	29086	hgsc.bcm.edu	37	19	17384931	17384931	+	Missense_Mutation	SNP	T	T	C			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr19:17384931T>C	ENST00000359435.4	+	5	674	c.481T>C	c.(481-483)Tcc>Ccc	p.S161P	BABAM1_ENST00000601043.1_Missense_Mutation_p.S161P|BABAM1_ENST00000447614.2_Missense_Mutation_p.S161P|BABAM1_ENST00000448635.2_Intron|BABAM1_ENST00000595632.1_Intron|CTD-2278I10.6_ENST00000596542.1_Missense_Mutation_p.S83P|BABAM1_ENST00000598188.1_Missense_Mutation_p.S161P	NM_001033549.1	NP_001028721.1	Q9NWV8	BABA1_HUMAN	BRISC and BRCA1 A complex member 1	161	VWFA-like.				chromatin modification (GO:0016568)|double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of DNA repair (GO:0045739)|protein K63-linked deubiquitination (GO:0070536)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRISC complex (GO:0070552)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5						TGGCCTGACCTCCGACCCCCG	0.667																																																0													57	66	63					19																	17384931		2060	4203	6263	SO:0001583	missense	29086			AK000578	CCDS46012.1, CCDS74310.1	19p13.11	2011-02-21	2011-02-21	2011-01-31	ENSG00000105393	ENSG00000105393			25008	protein-coding gene	gene with protein product	"Mediator of Rap80 Interactions and Targeting 40 kD", "new component of the BRCA1 A complex"	612766	"chromosome 19 open reading frame 62"	C19orf62		11042152	Standard	NM_001288756		Approved	FLJ20571, HSPC142, NBA1, MERIT40	uc002nfv.3	Q9NWV8		ENST00000359435.4:c.481T>C	chr19.hg19:g.17384931T>C	ENSP00000352408:p.Ser161Pro		A8MQT0|B4DRY9|B4DVR1|Q6FIA0|Q9P018	Missense_Mutation	SNP	ENST00000359435.4	hg19	CCDS46012.1	.	.	.	.	.	.	.	.	.	.	T	19.36	3.812432	0.70912	.	.	ENSG00000105393	ENST00000359435;ENST00000447614;ENST00000300965	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.76666	0.4019	M	0.66939	2.045	0.80722	D	1	D	0.71674	0.998	D	0.76575	0.988	T	0.77885	-0.2421	9	0.52906	T	0.07	-27.2018	14.0114	0.64498	0.0:0.0:0.0:1.0	.	161	Q9NWV8	BABA1_HUMAN	P	161;161;83	.	ENSP00000300965:S83P	S	+	1	0	BABAM1	17245931	1.000000	0.71417	0.979000	0.43373	0.276000	0.26787	5.510000	0.67018	2.192000	0.70111	0.533000	0.62120	TCC		0.667	BABAM1-005	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463471.1	NM_014173		C	17384931	T	C	17384931	3	2	772	1	0	0	0	0	1	0	0	0	1946	1551	54	3	495	3	C19orf62	19	17384931	Missense_Mutation	SNP	T	TCGA-P4-A5E7-01A-31D-A28G-10	591640	17384931	41744052	76	45613											
SFRS14	10147	hgsc.bcm.edu	37	19	19106027	19106027	+	Missense_Mutation	SNP	C	C	T			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr19:19106027C>T	ENST00000601879.1	-	9	3351	c.3054G>A	c.(3052-3054)atG>atA	p.M1018I	SUGP2_ENST00000456085.2_Missense_Mutation_p.M787I|SUGP2_ENST00000600377.1_Missense_Mutation_p.M1032I|AC004447.2_ENST00000594142.1_RNA|SUGP2_ENST00000452918.2_Missense_Mutation_p.M1018I|SUGP2_ENST00000337018.6_Missense_Mutation_p.M1018I			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	1018	G-patch. {ECO:0000255|PROSITE- ProRule:PRU00092}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						TCTTCTGCAGCATCTGGAAGC	0.627																																																0													64	53	57					19																	19106027		2203	4300	6503	SO:0001583	missense	10147			AB002363	CCDS12392.1	19p13	2013-01-28	2010-08-10	2010-08-10	ENSG00000064607	ENSG00000064607		"G patch domain containing"	18641	protein-coding gene	gene with protein product		607993	"splicing factor, arginine/serine-rich 14"	SFRS14		12594045	Standard	NM_014884		Approved	KIAA0365	uc002nkx.2	Q8IX01		ENST00000601879.1:c.3054G>A	chr19.hg19:g.19106027C>T	ENSP00000472286:p.Met1018Ile		C9JI71|O15071|O60369|Q5JPH7|Q8WUF7	Missense_Mutation	SNP	ENST00000601879.1	hg19	CCDS12392.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.017731	0.93404	.	.	ENSG00000064607	ENST00000337018;ENST00000330854;ENST00000452918;ENST00000456085	T;T;T;T	0.37235	1.21;1.21;1.21;1.21	5.05	5.05	0.67936	D111/G-patch (3);	0.000000	0.85682	D	0.000000	T	0.61236	0.2331	M	0.73962	2.25	0.58432	D	0.999999	D;D;D	0.59357	0.969;0.985;0.969	D;D;D	0.72338	0.968;0.977;0.951	T	0.65627	-0.6122	10	0.72032	D	0.01	-26.6822	16.9459	0.86230	0.0:1.0:0.0:0.0	.	787;1018;1018	E7ETX7;A8K5G0;Q8IX01	.;.;SUGP2_HUMAN	I	1018;966;1018;787	ENSP00000337926:M1018I;ENSP00000332373:M966I;ENSP00000389380:M1018I;ENSP00000409603:M787I	ENSP00000332373:M966I	M	-	3	0	SUGP2	18967027	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.709000	0.74665	2.349000	0.79799	0.462000	0.41574	ATG		0.627	SUGP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464627.1	NM_001017392		T	19106027	C	T	19106027	3	4	772	1	0	0	0	0	1	0	0	0	14176	710	25	2	202	2	SFRS14	19	19106027	Missense_Mutation	SNP	C	TCGA-P4-A5E7-01A-31D-A28G-10	1721096	19106027	40022956	77	45614											
ETHE1	23474	hgsc.bcm.edu	37	19	44030497	44030497	+	Missense_Mutation	SNP	A	A	T			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr19:44030497A>T	ENST00000292147.2	-	3	297	c.231T>A	c.(229-231)aaT>aaA	p.N77K	ZNF575_ENST00000458714.2_Intron|ETHE1_ENST00000600651.1_Missense_Mutation_p.N77K	NM_014297.3	NP_055112.2	O95571	ETHE1_HUMAN	ethylmalonic encephalopathy 1	77					cellular nitrogen compound metabolic process (GO:0034641)|glutathione metabolic process (GO:0006749)|hydrogen sulfide metabolic process (GO:0070813)|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)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|sulfur dioxygenase activity (GO:0050313)			central_nervous_system(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	5		Prostate(69;0.0153)				GGCAGTGGGTATTCACTGGGA	0.637																																																0													50	50	50					19																	44030497		2203	4300	6503	SO:0001583	missense	23474				CCDS12622.1	19q13.32	2014-06-20				ENSG00000105755	1.13.11.18		23287	protein-coding gene	gene with protein product		608451				19136963	Standard	NM_014297		Approved	YF13H12, HSCO	uc002owp.3	O95571		ENST00000292147.2:c.231T>A	chr19.hg19:g.44030497A>T	ENSP00000292147:p.Asn77Lys		Q96HR0|Q9H001	Missense_Mutation	SNP	ENST00000292147.2	hg19	CCDS12622.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.574665	0.86542	.	.	ENSG00000105755	ENST00000292147	T	0.80393	-1.37	4.67	-5.32	0.02722	Beta-lactamase-like (2);	0.000000	0.85682	D	0.000000	D	0.91666	0.7366	H	0.96777	3.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.99;1.0	D	0.91960	0.5578	10	0.62326	D	0.03	-16.786	17.6863	0.88257	0.168:0.0:0.832:0.0	.	50;77	B2RCZ7;O95571	.;ETHE1_HUMAN	K	77	ENSP00000292147:N77K	ENSP00000292147:N77K	N	-	3	2	ETHE1	48722337	0.995000	0.38212	0.901000	0.35422	0.992000	0.81027	0.170000	0.16663	-1.038000	0.03279	-0.375000	0.07067	AAT		0.637	ETHE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463184.1	NM_014297		T	44030497	A	T	44030497	3	4	772	1	0	0	0	0	1	0	0	0	5274	446	16	5	553	5	ETHE1	19	44030497	Missense_Mutation	SNP	A	TCGA-P4-A5E7-01A-31D-A28G-10	24924470	44030497	15098486	78	45615											
NUP62	23636	hgsc.bcm.edu	37	19	50411616	50411633	+	In_Frame_Del	DEL	GTCCATGTGCGCATTGAG	GTCCATGTGCGCATTGAG	-	rs139913264|rs61751953|rs151075180		TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	GTCCATGTGCGCATTGAG	GTCCATGTGCGCATTGAG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr19:50411616_50411633delGTCCATGTGCGCATTGAG	ENST00000596217.1	-	2	3319_3336	c.1432_1449delCTCAATGCGCACATGGAC	c.(1432-1449)ctcaatgcgcacatggacdel	p.LNAHMD478del	IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000597723.1_In_Frame_Del_p.LNAHMD402del|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000352066.3_In_Frame_Del_p.LNAHMD478del|NUP62_ENST00000422090.2_In_Frame_Del_p.LNAHMD478del|NUP62_ENST00000600583.1_5'Flank|NUP62_ENST00000597029.1_In_Frame_Del_p.LNAHMD478del|NUP62_ENST00000413454.1_In_Frame_Del_p.LNAHMD478del			P37198	NUP62_HUMAN	nucleoporin 62kDa	478					carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|hormone-mediated signaling pathway (GO:0009755)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of programmed cell death (GO:0043069)|negative regulation of Ras protein signal transduction (GO:0046580)|nucleocytoplasmic transport (GO:0006913)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of Ras protein signal transduction (GO:0046578)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleocytoplasmic shuttling complex (GO:0031074)|pore complex (GO:0046930)|ribonucleoprotein complex (GO:0030529)	chromatin binding (GO:0003682)|receptor signaling complex scaffold activity (GO:0030159)|SH2 domain binding (GO:0042169)|structural constituent of nuclear pore (GO:0017056)|thyroid hormone receptor binding (GO:0046966)|ubiquitin binding (GO:0043130)	p.A480A(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		ACTGCAGTGAGTCCATGTGCGCATTGAGGATCTTGCAG	0.628																																																1	Substitution - coding silent(1)	lung(1)																																								SO:0001651	inframe_deletion	23636			X58521	CCDS12788.1	19q13.33	2013-09-20	2002-08-29		ENSG00000213024	ENSG00000213024			8066	protein-coding gene	gene with protein product	"nuclear pore glycoprotein p62"	605815	"nucleoporin 62kD"			1915414	Standard	NM_016553		Approved	p62, DKFZp547L134, IBSN, SNDI, MGC841, FLJ20822, FLJ43869	uc002pqx.3	P37198	OTTHUMG00000183077	ENST00000596217.1:c.1432_1449delCTCAATGCGCACATGGAC	chr19.hg19:g.50411616_50411633delGTCCATGTGCGCATTGAG	ENSP00000471191:p.Leu478_Asp483del		B3KWU5|Q503A4|Q6GTM2|Q96C43|Q9NSL1	In_Frame_Del	DEL	ENST00000596217.1	hg19	CCDS12788.1																																																																																				0.628	NUP62-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464991.1	NM_153719		-	50411633	GTCCATGTGCGCATTGAG	-	50411616	7	5	772	1	0	1	0	1	0	0	0	0	10770	1020	36	0	123	0	NUP62	19	50411616	In_Frame_Del	DEL	GTCCATGTGCGCATTGAG	TCGA-P4-A5E7-01A-31D-A28G-10	6381119	50411616	8717367	79	45616											
PRKCG	5582	hgsc.bcm.edu	37	19	54401854	54401854	+	Frame_Shift_Del	DEL	C	C	-			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr19:54401854delC	ENST00000263431.3	+	11	1535	c.1253delC	c.(1252-1254)accfs	p.T418fs	PRKCG_ENST00000542049.1_Frame_Shift_Del_p.T305fs|PRKCG_ENST00000540413.1_Frame_Shift_Del_p.T418fs	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	418	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)	CACTTCCTCACCCAGCTCCAC	0.662																																																0													12	13	13					19																	54401854		2200	4285	6485	SO:0001589	frameshift_variant	5582			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.1253delC	chr19.hg19:g.54401854delC	ENSP00000263431:p.Thr418fs		B7Z8Q0	Frame_Shift_Del	DEL	ENST00000263431.3	hg19	CCDS12867.1																																																																																				0.662	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739		-	54401854	C	-	54401854	7	5	772	1	0	1	0	1	0	0	0	0	12517	507	18	0	1295	0	PRKCG	19	54401854	Frame_Shift_Del	DEL	C	TCGA-P4-A5E7-01A-31D-A28G-10	3990238	54401854	4727129	80	45617											
JAG1	182	hgsc.bcm.edu	37	20	10653490	10653490	+	Nonsense_Mutation	SNP	A	A	C			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr20:10653490A>C	ENST00000254958.5	-	2	761	c.246T>G	c.(244-246)taT>taG	p.Y82*	RP11-103J8.1_ENST00000605292.1_RNA	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	82					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						CGCGGGACTGATACTCCTTGA	0.662									Alagille Syndrome																																							0													51	50	51					20																	10653490		2203	4299	6502	SO:0001587	stop_gained	182	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	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.246T>G	chr20.hg19:g.10653490A>C	ENSP00000254958:p.Tyr82*		A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Nonsense_Mutation	SNP	ENST00000254958.5	hg19	CCDS13112.1	.	.	.	.	.	.	.	.	.	.	A	41	8.923643	0.99004	.	.	ENSG00000101384	ENST00000254958	.	.	.	5.28	1.45	0.22620	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.9719	0.41759	0.4136:0.0:0.5864:0.0	.	.	.	.	X	82	.	ENSP00000254958:Y82X	Y	-	3	2	JAG1	10601490	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.053000	0.41326	0.554000	0.29061	0.459000	0.35465	TAT		0.662	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214		C	10653490	A	C	10653490	4	2	772	1	0	0	0	0	0	1	0	0	7936	340	12	5	3510	5	JAG1	20	10653490	Nonsense_Mutation	SNP	A	TCGA-P4-A5E7-01A-31D-A28G-10		10653490	52372030	81	45618											
C20orf12	55184	hgsc.bcm.edu	37	20	18414380	18414380	+	Silent	SNP	C	C	T			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr20:18414380C>T	ENST00000358866.6	-	8	799	c.777G>A	c.(775-777)ttG>ttA	p.L259L	DZANK1_ENST00000487128.1_5'UTR|DZANK1_ENST00000329494.5_Silent_p.L261L|DZANK1_ENST00000262547.5_Silent_p.L259L|DZANK1_ENST00000357236.4_Silent_p.L145L|RNA5SP476_ENST00000516613.1_RNA			Q9NVP4	DZAN1_HUMAN	double zinc ribbon and ankyrin repeat domains 1	259							zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10)	19						TCATGGGTACCAAGCTTCTGC	0.458																																																0													112	109	110					20																	18414380		2000	4182	6182	SO:0001819	synonymous_variant	55184			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.777G>A	chr20.hg19:g.18414380C>T			B7ZLZ4|Q4F7X1|Q5QPD9|Q5QPE0|Q68DN8|Q6ZMX9|Q96NF0|Q9H1E0|Q9H442	Silent	SNP	ENST00000358866.6	hg19	CCDS46582.1	.	.	.	.	.	.	.	.	.	.	C	0.837	-0.743265	0.03088	.	.	ENSG00000089091	ENST00000358866	.	.	.	4.97	4.02	0.46733	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.6738	10.7045	0.45948	0.0:0.9065:0.0:0.0935	.	.	.	.	X	58	.	.	W	-	2	0	C20orf12	18362380	1.000000	0.71417	0.803000	0.32268	0.023000	0.10783	1.732000	0.38146	2.448000	0.82819	0.655000	0.94253	TGG		0.458	DZANK1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471926.1	NM_001099407		T	18414380	C	T	18414380	2	4	772	1	0	0	0	0	0	0	0	1	2087	593	21	2		2	C20orf12	20	18414380	Silent	SNP	C	TCGA-P4-A5E7-01A-31D-A28G-10	7760890	18414380	44611140	82	45619											
PLUNC	51297	hgsc.bcm.edu	37	20	31829269	31829269	+	Frame_Shift_Del	DEL	G	G	-			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr20:31829269delG	ENST00000354297.4	+	6	731	c.660delG	c.(658-660)cagfs	p.Q220fs	BPIFA1_ENST00000375422.2_Frame_Shift_Del_p.Q220fs|BPIFA1_ENST00000375413.4_Frame_Shift_Del_p.Q220fs	NM_130852.2	NP_570913.1	Q9NP55	BPIA1_HUMAN	BPI fold containing family A, member 1	220				Q -> K (in Ref. 1; AAF70860). {ECO:0000305}.	antibacterial humoral response (GO:0019731)|innate immune response (GO:0045087)|multicellular organismal water homeostasis (GO:0050891)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|regulation of liquid surface tension (GO:0050828)|regulation of sodium ion transmembrane transport (GO:1902305)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)										AGTTGGTTCAGGGCAACGTAA	0.512																																																0													164	158	160					20																	31829269		2203	4300	6503	SO:0001589	frameshift_variant	51297			AB024937	CCDS13217.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000198183	ENSG00000198183		"BPI fold containing"	15749	protein-coding gene	gene with protein product		607412	"palate, lung and nasal epithelium carcinoma associated", "palate, lung and nasal epithelium associated"	PLUNC		11018263, 11251963, 21787333	Standard	NM_130852		Approved	LUNX, bA49G10.5, SPLUNC1	uc002wyv.3	Q9NP55	OTTHUMG00000032243	ENST00000354297.4:c.660delG	chr20.hg19:g.31829269delG	ENSP00000346251:p.Gln220fs		A8K9R3|E1P5M9|Q9NZT0	Frame_Shift_Del	DEL	ENST00000354297.4	hg19	CCDS13217.1																																																																																				0.512	BPIFA1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078667.2	NM_130852		-	31829269	G	-	31829269	7	5	772	1	0	1	0	1	0	0	0	0	12117	991	35	0	678	0	PLUNC	20	31829269	Frame_Shift_Del	DEL	G	TCGA-P4-A5E7-01A-31D-A28G-10	13414889	31829269	31196251	83	45620											
SS18L1	26039	hgsc.bcm.edu	37	20	60738629	60738629	+	Missense_Mutation	SNP	C	C	A			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr20:60738629C>A	ENST00000331758.3	+	6	698	c.672C>A	c.(670-672)agC>agA	p.S224R	SS18L1_ENST00000421564.1_Missense_Mutation_p.S224R|SS18L1_ENST00000370848.4_Missense_Mutation_p.S227R	NM_198935.1	NP_945173.1	O75177	CREST_HUMAN	synovial sarcoma translocation gene on chromosome 18-like 1	224	Gln-rich.|Methionine-rich intra-molecular domain. {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)			GCCAGGGGAGCAGCATGATGG	0.731			T	SSX1	synovial sarcoma																																		Dom	yes		20	20q13.3	26039	synovial sarcoma translocation gene on chromosome 18-like 1		M	0													23	25	25					20																	60738629		2195	4294	6489	SO:0001583	missense	26039			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.672C>A	chr20.hg19:g.60738629C>A	ENSP00000333012:p.Ser224Arg		A6NNE3|A8K620|B3KWR8|E1P5H7|Q5JXJ3|Q6MZV9|Q6NTH3|Q6XYD9|Q8NE69|Q9BR55|Q9H4K6	Missense_Mutation	SNP	ENST00000331758.3	hg19	CCDS13491.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.499248	0.64298	.	.	ENSG00000184402	ENST00000421564;ENST00000331758;ENST00000370848	T;T;T	0.32515	1.45;1.45;1.46	4.99	3.03	0.35002	.	0.269496	0.44483	D	0.000453	T	0.28499	0.0705	L	0.47716	1.5	0.25078	N	0.990947	P;P	0.45902	0.651;0.868	B;B	0.42319	0.198;0.383	T	0.11036	-1.0604	10	0.87932	D	0	-10.1574	11.0441	0.47849	0.0:0.8465:0.0:0.1535	.	224;224	B4DSR7;O75177	.;CREST_HUMAN	R	224;224;227	ENSP00000393999:S224R;ENSP00000333012:S224R;ENSP00000359885:S227R	ENSP00000333012:S224R	S	+	3	2	SS18L1	60172024	1.000000	0.71417	0.766000	0.31476	0.987000	0.75469	1.854000	0.39368	0.498000	0.27948	0.467000	0.42956	AGC		0.731	SS18L1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080004.2			A	60738629	C	A	60738629	3	1	772	1	0	0	0	0	1	0	0	0	15181	709	25	4	694	4	SS18L1	20	60738629	Missense_Mutation	SNP	C	TCGA-P4-A5E7-01A-31D-A28G-10	28909360	60738629	2286891	84	45621											
PWP2	5822	hgsc.bcm.edu	37	21	45534138	45534138	+	Missense_Mutation	SNP	T	T	C			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr21:45534138T>C	ENST00000291576.7	+	4	432	c.305T>C	c.(304-306)gTg>gCg	p.V102A		NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	102					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)		GTGCACAGTGTGTCCTTCTCC	0.652											OREG0026247	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													113	94	100					21																	45534138		2203	4300	6503	SO:0001583	missense	5822				CCDS33579.1	21q22.3	2013-01-10	2001-11-28	2006-11-24	ENSG00000241945	ENSG00000241945		"WD repeat domain containing"	9711	protein-coding gene	gene with protein product		601475	"PWP2 (periodic tryptophan protein, yeast) homolog"	PWP2H		8893822	Standard	NM_005049		Approved	EHOC-17, UTP1	uc002zeb.3	Q15269	OTTHUMG00000086893	ENST00000291576.7:c.305T>C	chr21.hg19:g.45534138T>C	ENSP00000291576:p.Val102Ala	932	B2RAG8|Q96A77	Missense_Mutation	SNP	ENST00000291576.7	hg19	CCDS33579.1	.	.	.	.	.	.	.	.	.	.	T	17.88	3.498423	0.64298	.	.	ENSG00000241945	ENST00000291576	T	0.50001	0.76	4.8	4.8	0.61643	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.213399	0.38720	N	0.001592	T	0.35451	0.0932	L	0.33624	1.015	0.46131	D	0.998884	B	0.31383	0.321	B	0.25506	0.061	T	0.21999	-1.0229	10	0.42905	T	0.14	-8.6121	12.8724	0.57972	0.0:0.0:0.0:1.0	.	102	Q15269	PWP2_HUMAN	A	102	ENSP00000291576:V102A	ENSP00000291576:V102A	V	+	2	0	PWP2	44358566	0.995000	0.38212	0.948000	0.38648	0.736000	0.42039	5.690000	0.68241	1.929000	0.55896	0.402000	0.26972	GTG		0.652	PWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195736.3	NM_005049		C	45534138	T	C	45534138	3	2	772	1	0	0	0	0	1	0	0	0	12850	1696	59	3	319	3	PWP2	21	45534138	Missense_Mutation	SNP	T	TCGA-P4-A5E7-01A-31D-A28G-10		45534138	2595757	85	45622											
C22orf15	150248	hgsc.bcm.edu	37	22	24106287	24106287	+	Silent	SNP	G	G	A			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr22:24106287G>A	ENST00000402217.3	+	2	292	c.39G>A	c.(37-39)gtG>gtA	p.V13V	C22orf15_ENST00000305199.5_Silent_p.V13V|C22orf15_ENST00000382821.3_Silent_p.V13V	NM_182520.2	NP_872326.2	Q8WYQ4	CV015_HUMAN	chromosome 22 open reading frame 15	13										breast(1)|pancreas(1)	2		Medulloblastoma(6;6.27e-05)|all_neural(6;0.00518)				GCTGCTCGGTGCTGGTGAACA	0.602																																																0													86	90	89					22																	24106287		692	1591	2283	SO:0001819	synonymous_variant	150248			AB050773	CCDS13814.2	22q11.23	2012-11-13			ENSG00000169314	ENSG00000169314			15558	protein-coding gene	gene with protein product							Standard	NM_182520		Approved	FLJ36561, N27C7-3	uc011aja.2	Q8WYQ4	OTTHUMG00000150740	ENST00000402217.3:c.39G>A	chr22.hg19:g.24106287G>A			Q6ICJ7	Silent	SNP	ENST00000402217.3	hg19	CCDS13814.2																																																																																				0.602	C22orf15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319887.2	NM_182520		A	24106287	G	A	24106287	2	1	772	1	0	0	0	0	0	0	0	1	2138	1306	46	2		2	C22orf15	22	24106287	Silent	SNP	G	TCGA-P4-A5E7-01A-31D-A28G-10		24106287	27198279	86	45623											
GATSL3	652968	hgsc.bcm.edu	37	22	30685454	30685454	+	Silent	SNP	C	C	T			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr22:30685454C>T	ENST00000407689.3	-	1	162	c.33G>A	c.(31-33)cgG>cgA	p.R11R	GATSL3_ENST00000459785.1_5'Flank|RP1-130H16.18_ENST00000447976.1_Intron|GATSL3_ENST00000404953.3_Silent_p.R11R	NM_001037666.2	NP_001032755.1	Q8WTX7	GATL3_HUMAN	GATS protein-like 3	11										breast(1)|endometrium(1)|lung(1)	3						CGCTCAGCACCCGCACCCGGT	0.741																																																0													11	18	16					22																	30685454		1870	4079	5949	SO:0001819	synonymous_variant	652968				CCDS43001.1	22q12	2010-06-23			ENSG00000239282	ENSG00000239282			34423	protein-coding gene	gene with protein product							Standard	NM_001037666		Approved			Q8WTX7	OTTHUMG00000150929	ENST00000407689.3:c.33G>A	chr22.hg19:g.30685454C>T			O76052|Q96ND9|Q9UIE8	Silent	SNP	ENST00000407689.3	hg19	CCDS43001.1																																																																																				0.741	GATSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320581.2	NM_001037666		T	30685454	C	T	30685454	2	4	772	1	0	0	0	0	0	0	0	1	6267	610	22	2		2	GATSL3	22	30685454	Silent	SNP	C	TCGA-P4-A5E7-01A-31D-A28G-10	6579167	30685454	20619112	87	45624											
CBY1	25776	hgsc.bcm.edu	37	22	39066951	39066951	+	Silent	SNP	G	G	A			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr22:39066951G>A	ENST00000216029.3	+	3	275	c.141G>A	c.(139-141)ctG>ctA	p.L47L	RP3-508I15.10_ENST00000423346.1_RNA|RP3-508I15.9_ENST00000431924.2_RNA|RP3-508I15.9_ENST00000444381.1_RNA|RP3-508I15.9_ENST00000422408.2_RNA	NM_015373.3	NP_056188.1	Q9Y3M2	CBY1_HUMAN	chibby homolog 1 (Drosophila)	47					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)					CTATGAACCTGGCAGGGCAAA	0.527																																																0													144	143	143					22																	39066951		2203	4300	6503	SO:0001819	synonymous_variant	25776			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.141G>A	chr22.hg19:g.39066951G>A			B2R4S2|Q66GT6|Q9UIK9	Silent	SNP	ENST00000216029.3	hg19	CCDS13974.1																																																																																				0.527	CBY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320832.1	NM_015373		A	39066951	G	A	39066951	2	1	772	1	0	0	0	0	0	0	0	1	2727	1335	47	2		2	CBY1	22	39066951	Silent	SNP	G	TCGA-P4-A5E7-01A-31D-A28G-10	8381497	39066951	12237615	88	45625											
EIF4G3	8672	hgsc.bcm.edu	37	1	21133827	21133829	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10	CTC	CTC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr1:21133827_21133829delCTC	ENST00000264211.8	-	31	4935_4937	c.4741_4743delGAG	c.(4741-4743)gagdel	p.E1581del	EIF4G3_ENST00000400422.1_In_Frame_Del_p.E1581del|EIF4G3_ENST00000374937.3_In_Frame_Del_p.E1587del|EIF4G3_ENST00000374935.3_In_Frame_Del_p.E1301del|EIF4G3_ENST00000536266.1_In_Frame_Del_p.E1185del|EIF4G3_ENST00000537738.1_In_Frame_Del_p.E1071del|EIF4G3_ENST00000602326.1_In_Frame_Del_p.E1587del	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1581	EIF4A-binding. {ECO:0000250}.|Necessary but not sufficient for MKNK1- binding. {ECO:0000250}.|W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				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)		TATCCTCAGACTCCTCTTCTGCT	0.438																																																0																																										SO:0001651	inframe_deletion	8672			AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.4741_4743delGAG	chr1.hg19:g.21133830_21133832delCTC	ENSP00000264211:p.Glu1581del		B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	In_Frame_Del	DEL	ENST00000264211.8	hg19	CCDS214.1																																																																																				0.438	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760		-	21133829	CTC	-	21133827	7	5	773	1	0	1	0	1	0	0	0	0	5040	564	20	0	18	0	EIF4G3	1	21133827	In_Frame_Del	DEL	CTC	TCGA-P4-A5E8-01A-11D-A28G-10		21133827	228116794	1	45626											
MSH4	4438	hgsc.bcm.edu	37	1	76346929	76346934	+	Splice_Site	DEL	TTTCAG	TTTCAG	-			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10	TTTCAG	TTTCAG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr1:76346929_76346934delTTTCAG	ENST00000263187.3	+	14	1885_1889	c.1781_1785delTTTCAG	c.(1780-1785)atttca>a	p.IS594del		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	594					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						ACGTGTTTTCAGGATAGTGTGCAAAC	0.306								Mismatch excision repair (MMR)																																								0																																										SO:0001630	splice_region_variant	4438			U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"mutS (E. coli) homolog 4", "mutS homolog 4 (E. coli)"			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.1782-1TTTCAG>-	chr1.hg19:g.76346929_76346934delTTTCAG			Q5T4U6|Q8NEB3|Q9UNP8	Splice_Site	DEL	ENST00000263187.3	hg19	CCDS670.1																																																																																				0.306	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026983.1	NM_002440	In_Frame_Del	-	76346934	TTTCAG	-	76346929	8	5	773	1	0	1	0	1	0	0	1	0	9874	202	7	0	1834	0	MSH4	1	76346929	Splice_Site	DEL	TTTCAG	TCGA-P4-A5E8-01A-11D-A28G-10	55213102	76346929	172903692	2	45627											
LYSMD1	388695	hgsc.bcm.edu	37	1	151134570	151134570	+	Missense_Mutation	SNP	G	G	T			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr1:151134570G>T	ENST00000368908.5	-	2	847	c.187C>A	c.(187-189)Cag>Aag	p.Q63K	LYSMD1_ENST00000440902.2_Missense_Mutation_p.Q15K	NM_212551.4	NP_997716.1	Q96S90	LYSM1_HUMAN	LysM, putative peptidoglycan-binding, domain containing 1	63										endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7	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)			CGTTTAATCTGTTCCATCTTA	0.378																																																0													50	51	51					1																	151134570		2203	4300	6503	SO:0001583	missense	388695			BX647911	CCDS986.1, CCDS44218.1	1q21.2	2008-02-05			ENSG00000163155	ENSG00000163155			32070	protein-coding gene	gene with protein product						12477932	Standard	NM_212551		Approved	SB145, MGC35223, RP11-68I18.5	uc001ewy.3	Q96S90	OTTHUMG00000012260	ENST00000368908.5:c.187C>A	chr1.hg19:g.151134570G>T	ENSP00000357904:p.Gln63Lys		B4DQA1|Q69YX9	Missense_Mutation	SNP	ENST00000368908.5	hg19	CCDS986.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.637942	0.67130	.	.	ENSG00000163155	ENST00000368908;ENST00000440902	T;T	0.40225	1.12;1.04	5.66	4.73	0.59995	Peptidoglycan-binding Lysin subgroup (1);Peptidoglycan-binding lysin domain (1);	0.000000	0.85682	D	0.000000	T	0.20210	0.0486	L	0.33189	0.99	0.49915	D	0.99983	P;B	0.41450	0.75;0.235	B;B	0.36766	0.232;0.103	T	0.07520	-1.0768	10	0.87932	D	0	-2.7477	14.7732	0.69696	0.0:0.0:0.8542:0.1457	.	15;63	Q96S90-2;Q96S90	.;LYSM1_HUMAN	K	63;15	ENSP00000357904:Q63K;ENSP00000404059:Q15K	ENSP00000357904:Q63K	Q	-	1	0	LYSMD1	149401194	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.056000	0.93881	1.345000	0.45676	0.467000	0.42956	CAG		0.378	LYSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034070.3	NM_212551		T	151134570	G	T	151134570	3	4	773	1	0	0	0	0	1	0	0	0	9126	1386	48	4	504	4	LYSMD1	1	151134570	Missense_Mutation	SNP	G	TCGA-P4-A5E8-01A-11D-A28G-10	74787641	151134570	98116051	3	45628											
TOR1AIP2	163590	hgsc.bcm.edu	37	1	179815212	179815212	+	Silent	SNP	A	A	C			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr1:179815212A>C	ENST00000367612.3	-	6	1794	c.1407T>G	c.(1405-1407)ctT>ctG	p.L469L	TOR1AIP2_ENST00000609928.1_Silent_p.L469L	NM_145034.4	NP_659471.1	Q9H496	IFG15_HUMAN	torsin A interacting protein 2	0										cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						AGCTTTAGAAAAGGCACCCCT	0.423																																																0													90	88	89					1																	179815212		2203	4300	6503	SO:0001819	synonymous_variant	163590				CCDS1334.1	1q25.2	2012-02-09			ENSG00000169905	ENSG00000169905			24055	protein-coding gene	gene with protein product		614513				15767459	Standard	NM_145034		Approved	LULL1, NET9, IFRG15	uc001gnk.3	Q8NFQ8	OTTHUMG00000035265	ENST00000367612.3:c.1407T>G	chr1.hg19:g.179815212A>C			Q05BU2	Silent	SNP	ENST00000367612.3	hg19	CCDS1334.1																																																																																				0.423	TOR1AIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085304.1	NM_145034		C	179815212	A	C	179815212	2	2	773	1	0	0	0	0	0	0	0	1	16378	1	1	5		5	TOR1AIP2	1	179815212	Silent	SNP	A	TCGA-P4-A5E8-01A-11D-A28G-10	28680642	179815212	69435409	4	45629											
GPR37L1	9283	hgsc.bcm.edu	37	1	202097307	202097311	+	Frame_Shift_Del	DEL	CTCAA	CTCAA	-	rs76841249	byFrequency	TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10	CTCAA	CTCAA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr1:202097307_202097311delCTCAA	ENST00000367282.5	+	2	1175_1179	c.1069_1073delCTCAA	c.(1069-1074)ctcaacfs	p.LN357fs		NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN	G protein-coupled receptor 37 like 1	357					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						TGAGAGCCAGCTCAACAGCACCGTG	0.639																																																0																																										SO:0001589	frameshift_variant	9283			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.1069_1073delCTCAA	chr1.hg19:g.202097307_202097311delCTCAA	ENSP00000356251:p.Leu357fs		B2R7M9|Q5SXP7|Q86VP7	Frame_Shift_Del	DEL	ENST00000367282.5	hg19	CCDS1420.1																																																																																				0.639	GPR37L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087496.2	NM_004767		-	202097311	CTCAA	-	202097307	7	5	773	1	0	1	0	1	0	0	0	0	6694	797	28	0	1075	0	GPR37L1	1	202097307	Frame_Shift_Del	DEL	CTCAA	TCGA-P4-A5E8-01A-11D-A28G-10	22282095	202097307	47153314	5	45630											
OR2T4	127074	hgsc.bcm.edu	37	1	248525639	248525639	+	Missense_Mutation	SNP	A	A	C	rs34079073|rs76878172	byFrequency	TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr1:248525639A>C	ENST00000366475.1	+	1	757	c.757A>C	c.(757-759)Atc>Ctc	p.I253L		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	253						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)			CTATTTACTCATCCTCCTCAC	0.522																																																0													94	74	81					1																	248525639		2024	3426	5450	SO:0001583	missense	127074			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.757A>C	chr1.hg19:g.248525639A>C	ENSP00000355431:p.Ile253Leu		Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	hg19	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	A	13.74	2.326339	0.41197	.	.	ENSG00000196944	ENST00000366475	T	0.00392	7.58	3.09	3.09	0.35607	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000219	T	0.01156	0.0038	H	0.94306	3.52	0.31855	N	0.621781	P	0.50156	0.932	P	0.59948	0.866	T	0.00865	-1.1535	10	0.72032	D	0.01	.	11.1471	0.48436	1.0:0.0:0.0:0.0	.	253	Q8NH00	OR2T4_HUMAN	L	253	ENSP00000355431:I253L	ENSP00000355431:I253L	I	+	1	0	OR2T4	246592262	1.000000	0.71417	0.050000	0.19076	0.010000	0.07245	7.329000	0.79170	1.264000	0.44198	0.477000	0.44152	ATC		0.522	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		C	248525639	A	C	248525639	3	2	773	1	0	0	0	0	1	0	0	0	11029	217	8	5	759	5	OR2T4	1	248525639	Missense_Mutation	SNP	A	TCGA-P4-A5E8-01A-11D-A28G-10	46428332	248525639	724982	6	45631											
THUMPD2	80745	hgsc.bcm.edu	37	2	39964198	39964199	+	Splice_Site	DEL	CT	CT	-			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr2:39964198_39964199delCT	ENST00000505747.1	-	10	1215_1216	c.1188_1189delAG	c.(1186-1191)agagtg>agtg	p.RV396fs	THUMPD2_ENST00000260619.6_Splice_Site_p.RV366fs	NM_025264.4	NP_079540.2	Q9BTF0	THUM2_HUMAN	THUMP domain containing 2	396							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)				ACATGAAGCACTCTGTGACAAA	0.356																																																0																																										SO:0001630	splice_region_variant	80745			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.1188-1AG>-	chr2.hg19:g.39964200_39964201delCT			A8K7I7|Q53TT8|Q53TV0	Frame_Shift_Del	DEL	ENST00000505747.1	hg19	CCDS1805.2																																																																																				0.356	THUMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219991.2	NM_025264	Frame_Shift_Del	-	39964199	CT	-	39964198	8	5	773	1	0	1	0	1	0	0	1	0	15888	579	20	0	326	0	THUMPD2	2	39964198	Splice_Site	DEL	CT	TCGA-P4-A5E8-01A-11D-A28G-10		39964198	203235175	7	45632	487	2									
THUMPD2	80745	hgsc.bcm.edu	37	2	39964200	39964200	+	Splice_Site	SNP	C	C	G			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr2:39964200C>G	ENST00000505747.1	-	10	1215		c.e10-1		THUMPD2_ENST00000260619.6_Splice_Site	NM_025264.4	NP_079540.2	Q9BTF0	THUM2_HUMAN	THUMP domain containing 2								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)				ATGAAGCACTCTGTGACAAAA	0.353																																																0													66	62	63					2																	39964200		2203	4300	6503	SO:0001630	splice_region_variant	80745			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.1188-1G>C	chr2.hg19:g.39964200C>G			A8K7I7|Q53TT8|Q53TV0	Splice_Site	SNP	ENST00000505747.1	hg19	CCDS1805.2	.	.	.	.	.	.	.	.	.	.	C	15.08	2.726690	0.48833	.	.	ENSG00000138050	ENST00000505747;ENST00000260619	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2156	0.73264	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	THUMPD2	39817704	1.000000	0.71417	1.000000	0.80357	0.548000	0.35241	4.572000	0.60886	2.664000	0.90586	0.655000	0.94253	.		0.353	THUMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219991.2	NM_025264	Intron	G	39964200	C	G	39964200	5	3	773	1	0	0	0	0	0	0	1	0	15888	927	32	4	328	4	THUMPD2	2	39964200	Splice_Site	SNP	C	TCGA-P4-A5E8-01A-11D-A28G-10	2	39964200	203235173	8	45633	487	2									
TSGA10	80705	hgsc.bcm.edu	37	2	99634687	99634687	+	Missense_Mutation	SNP	C	C	T			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr2:99634687C>T	ENST00000393483.3	-	20	2892	c.2048G>A	c.(2047-2049)cGa>cAa	p.R683Q	TSGA10_ENST00000539964.1_Missense_Mutation_p.R683Q|TSGA10_ENST00000355053.4_Missense_Mutation_p.R683Q|TSGA10_ENST00000410001.1_Missense_Mutation_p.R683Q	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	683	Interaction with HIF1A. {ECO:0000250}.				cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						ATCTAGGCCTCGGTCAGGAGA	0.383																																																0													115	109	111					2																	99634687		2203	4300	6503	SO:0001583	missense	80705			AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951			14927	protein-coding gene	gene with protein product	"cancer/testis antigen 79"	607166				11179690	Standard	NM_025244		Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.2048G>A	chr2.hg19:g.99634687C>T	ENSP00000377123:p.Arg683Gln		B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Missense_Mutation	SNP	ENST00000393483.3	hg19	CCDS2037.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.604396	0.87157	.	.	ENSG00000135951	ENST00000393483;ENST00000410001;ENST00000355053;ENST00000539964;ENST00000409564;ENST00000393482	T;T;T;T;T;T	0.54071	0.66;0.66;0.66;0.66;0.59;0.72	5.04	4.16	0.48862	.	0.368291	0.23162	N	0.051240	T	0.39384	0.1076	L	0.27053	0.805	0.80722	D	1	B	0.18461	0.028	B	0.10450	0.005	T	0.21827	-1.0234	10	0.39692	T	0.17	-2.5563	12.49	0.55895	0.0:0.9177:0.0:0.0823	.	683	Q9BZW7	TSG10_HUMAN	Q	683;683;683;683;613;683	ENSP00000377123:R683Q;ENSP00000386956:R683Q;ENSP00000347161:R683Q;ENSP00000444419:R683Q;ENSP00000386508:R613Q;ENSP00000377122:R683Q	ENSP00000347161:R683Q	R	-	2	0	TSGA10	99001119	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.166000	0.64965	1.472000	0.48140	0.655000	0.94253	CGA		0.383	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253125.1	NM_182911		T	99634687	C	T	99634687	3	4	773	1	0	0	0	0	1	0	0	0	16622	884	31	1	56	1	TSGA10	2	99634687	Missense_Mutation	SNP	C	TCGA-P4-A5E8-01A-11D-A28G-10	59670487	99634687	143564686	9	45634											
HOXD10	3236	hgsc.bcm.edu	37	2	176981597	176981599	+	In_Frame_Del	DEL	TTT	TTT	-			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10	TTT	TTT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr2:176981597_176981599delTTT	ENST00000249501.4	+	1	291_293	c.36_38delTTT	c.(34-39)actttt>act	p.F13del	HOXD10_ENST00000490088.2_Intron	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	13					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|neuromuscular process (GO:0050905)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		CTGCTAATACTTTTTTAGTAGAT	0.453																																																0																																										SO:0001651	inframe_deletion	3236				CCDS2266.1	2q31.1	2014-09-17	2005-12-22		ENSG00000128710	ENSG00000128710		"Homeoboxes / ANTP class : HOXL subclass"	5133	protein-coding gene	gene with protein product		142984	"homeo box D10"	HOX4, HOX4D		1973146, 1358459	Standard	NM_002148		Approved		uc002ukj.3	P28358	OTTHUMG00000132511	ENST00000249501.4:c.36_38delTTT	chr2.hg19:g.176981600_176981602delTTT	ENSP00000249501:p.Phe13del		Q6NT10	In_Frame_Del	DEL	ENST00000249501.4	hg19	CCDS2266.1																																																																																				0.453	HOXD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255692.2			-	176981599	TTT	-	176981597	7	5	773	1	0	1	0	1	0	0	0	0	7321	1596	56	0	38	0	HOXD10	2	176981597	In_Frame_Del	DEL	TTT	TCGA-P4-A5E8-01A-11D-A28G-10	77346910	176981597	66217776	10	45635											
GLS	2744	hgsc.bcm.edu	37	2	191788697	191788701	+	Frame_Shift_Del	DEL	AAAAG	AAAAG	-			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10	AAAAG	AAAAG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr2:191788697_191788701delAAAAG	ENST00000320717.3	+	10	1443_1447	c.1185_1189delAAAAG	c.(1183-1191)ttaaaagaafs	p.KE396fs	GLS_ENST00000338435.4_Frame_Shift_Del_p.KE396fs	NM_014905.4	NP_055720.3	O94925	GLSK_HUMAN	glutaminase	396					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate secretion (GO:0014047)|glutamine catabolic process (GO:0006543)|neurotransmitter secretion (GO:0007269)|protein homotetramerization (GO:0051289)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|small molecule metabolic process (GO:0044281)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glutaminase activity (GO:0004359)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamine(DB00130)	GATATTACTTAAAAGAAAAGAAGGT	0.259																																																0																																										SO:0001589	frameshift_variant	2744			AB020645	CCDS2308.1, CCDS58744.1	2q32-q34	2013-01-10			ENSG00000115419	ENSG00000115419	3.5.1.2	"Ankyrin repeat domain containing"	4331	protein-coding gene	gene with protein product		138280				10048485	Standard	NM_014905		Approved	KIAA0838, GLS1	uc002usf.3	O94925	OTTHUMG00000132701	ENST00000320717.3:c.1185_1189delAAAAG	chr2.hg19:g.191788702_191788706delAAAAG	ENSP00000317379:p.Lys396fs		Q9UL05|Q9UL06|Q9UL07|Q9UN40	Frame_Shift_Del	DEL	ENST00000320717.3	hg19	CCDS2308.1																																																																																				0.259	GLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255999.2			-	191788701	AAAAG	-	191788697	7	5	773	1	0	1	0	1	0	0	0	0	6465	359	13	0	1223	0	GLS	2	191788697	Frame_Shift_Del	DEL	AAAAG	TCGA-P4-A5E8-01A-11D-A28G-10	14807100	191788697	51410676	11	45636											
TMEM184C	55751	hgsc.bcm.edu	37	4	148545023	148545023	+	Missense_Mutation	SNP	C	C	G			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr4:148545023C>G	ENST00000296582.3	+	2	736	c.162C>G	c.(160-162)atC>atG	p.I54M	TMEM184C_ENST00000508208.1_Missense_Mutation_p.I54M	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	54						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						TTGCTGGAATCTTTTTGCTGT	0.333																																																0													137	135	135					4																	148545023		2202	4299	6501	SO:0001583	missense	55751			AF305823	CCDS3770.1	4q31.22	2008-06-05	2008-06-05	2008-06-05		ENSG00000164168			25587	protein-coding gene	gene with protein product		613937	"transmembrane protein 34"	TMEM34			Standard	NM_018241		Approved	FLJ10846	uc003ila.4	Q9NVA4		ENST00000296582.3:c.162C>G	chr4.hg19:g.148545023C>G	ENSP00000296582:p.Ile54Met		D3DP04|Q86X84|Q969I7|Q9NXM2	Missense_Mutation	SNP	ENST00000296582.3	hg19	CCDS3770.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.130269	0.37630	.	.	ENSG00000164168	ENST00000296582;ENST00000508208	T;T	0.45668	0.89;0.89	5.28	3.47	0.39725	.	0.000000	0.85682	D	0.000000	T	0.45994	0.1370	L	0.60904	1.88	0.50171	D	0.999858	P	0.42456	0.78	P	0.45138	0.471	T	0.45425	-0.9262	10	0.54805	T	0.06	-23.423	13.982	0.64310	0.54:0.46:0.0:0.0	.	54	Q9NVA4	T184C_HUMAN	M	54	ENSP00000296582:I54M;ENSP00000425940:I54M	ENSP00000296582:I54M	I	+	3	3	TMEM184C	148764473	0.945000	0.32115	1.000000	0.80357	0.993000	0.82548	0.073000	0.14640	0.644000	0.30656	0.455000	0.32223	ATC		0.333	TMEM184C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364644.1	NM_018241		G	148545023	C	G	148545023	3	3	773	1	0	0	0	0	1	0	0	0	16111	903	32	4	168	4	TMEM184C	4	148545023	Missense_Mutation	SNP	C	TCGA-P4-A5E8-01A-11D-A28G-10		148545023	42609253	12	45637											
FAT1	2195	hgsc.bcm.edu	37	4	187629210	187629211	+	Frame_Shift_Del	DEL	AC	AC	-	rs572691033	byFrequency	TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10	AC	AC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr4:187629210_187629211delAC	ENST00000441802.2	-	2	1980_1981	c.1771_1772delGT	c.(1771-1773)gttfs	p.V591fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	591	Cadherin 5. {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						AATAGCAGAAACAGTGGTTATT	0.396										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)											0																																										SO:0001589	frameshift_variant	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.1771_1772delGT	chr4.hg19:g.187629210_187629211delAC	ENSP00000406229:p.Val591fs			Frame_Shift_Del	DEL	ENST00000441802.2	hg19	CCDS47177.1																																																																																				0.396	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		-	187629211	AC	-	187629210	7	5	773	1	0	1	0	1	0	0	0	0	5691	43	2	0	12098	0	FAT1	4	187629210	Frame_Shift_Del	DEL	AC	TCGA-P4-A5E8-01A-11D-A28G-10	39084187	187629210	3525066	13	45638											
NIPBL	25836	hgsc.bcm.edu	37	5	36986201	36986204	+	Frame_Shift_Del	DEL	AAAG	AAAG	-			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10	AAAG	AAAG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr5:36986201_36986204delAAAG	ENST00000282516.8	+	10	3418_3421	c.2919_2922delAAAG	c.(2917-2922)acaaagfs	p.TK973fs	NIPBL_ENST00000448238.2_Frame_Shift_Del_p.TK973fs|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	973					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)			CTCAGGAGACAAAGAAAATGGAAA	0.373																																																0			GRCh37	CD063575	NIPBL	D																																				SO:0001589	frameshift_variant	25836			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"sister chromatid cohesion 2 homolog (yeast)"	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.2919_2922delAAAG	chr5.hg19:g.36986201_36986204delAAAG	ENSP00000282516:p.Thr973fs		Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Frame_Shift_Del	DEL	ENST00000282516.8	hg19	CCDS3920.1																																																																																				0.373	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		-	36986204	AAAG	-	36986201	7	5	773	1	0	1	0	1	0	0	0	0	10430	117	5	0	2953	0	NIPBL	5	36986201	Frame_Shift_Del	DEL	AAAG	TCGA-P4-A5E8-01A-11D-A28G-10		36986201	143929059	14	45639											
C5orf35	133383	hgsc.bcm.edu	37	5	56210690	56210691	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10	AG	AG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr5:56210690_56210691delAG	ENST00000285947.2	+	5	1095_1096	c.709_710delAG	c.(709-711)agafs	p.R237fs	SETD9_ENST00000475908.1_3'UTR|SETD9_ENST00000541720.1_Frame_Shift_Del_p.R237fs	NM_153706.3	NP_714917.2	Q8NE22	SETD9_HUMAN	SET domain containing 9	237	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						methyltransferase activity (GO:0008168)										GTTCCTAGACAGAGCAGCTAAT	0.356																																																0																																										SO:0001589	frameshift_variant	133383			BC036528	CCDS3972.1	5q11.2	2012-02-23	2012-02-23	2012-02-23	ENSG00000155542	ENSG00000155542			28508	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 35"	C5orf35		20930037	Standard	NM_153706		Approved	MGC33648	uc003jqx.3	Q8NE22	OTTHUMG00000059485	ENST00000285947.2:c.709_710delAG	chr5.hg19:g.56210692_56210693delAG	ENSP00000285947:p.Arg237fs		F5H713	Frame_Shift_Del	DEL	ENST00000285947.2	hg19	CCDS3972.1																																																																																				0.356	SETD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132304.2	NM_153706		-	56210691	AG	-	56210690	7	5	773	1	0	1	0	1	0	0	0	0	2296	180	7	0	727	0	C5orf35	5	56210690	Frame_Shift_Del	DEL	AG	TCGA-P4-A5E8-01A-11D-A28G-10	19224489	56210690	124704570	15	45640											
MAST4	375449	hgsc.bcm.edu	37	5	66456396	66456396	+	Missense_Mutation	SNP	C	C	A			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr5:66456396C>A	ENST00000403625.2	+	27	4056	c.3761C>A	c.(3760-3762)tCc>tAc	p.S1254Y	MAST4_ENST00000261569.7_Missense_Mutation_p.S1060Y|MAST4_ENST00000405643.1_Missense_Mutation_p.S1075Y|MAST4_ENST00000403666.1_Missense_Mutation_p.S1065Y|MAST4_ENST00000404260.3_Missense_Mutation_p.S1257Y	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1257						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)		AGCAAGAAATCCAAGAAGAAA	0.393																																																0													104	106	106					5																	66456396		1862	4094	5956	SO:0001583	missense	375449			AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.3761C>A	chr5.hg19:g.66456396C>A	ENSP00000385727:p.Ser1254Tyr		A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	hg19	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.031570	0.75504	.	.	ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569;ENST00000432399	T;T;T;T;T	0.68331	-0.28;-0.28;-0.32;-0.32;-0.28	5.81	4.93	0.64822	.	0.234815	0.43260	D	0.000587	T	0.79106	0.4390	M	0.73217	2.22	0.34416	D	0.696926	D;D	0.69078	0.99;0.997	P;D	0.65443	0.862;0.935	D	0.85389	0.1124	10	0.72032	D	0.01	-19.186	14.3064	0.66386	0.0:0.9294:0.0:0.0706	.	1257;1065	O15021;O15021-3	MAST4_HUMAN;.	Y	1257;1254;1065;1075;1075;1060;993	ENSP00000385048:S1257Y;ENSP00000385727:S1254Y;ENSP00000384313:S1065Y;ENSP00000384099:S1075Y;ENSP00000261569:S1060Y	ENSP00000261569:S1060Y	S	+	2	0	MAST4	66492152	0.998000	0.40836	1.000000	0.80357	0.995000	0.86356	3.264000	0.51553	2.736000	0.93811	0.655000	0.94253	TCC		0.393	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			A	66456396	C	A	66456396	3	1	773	1	0	0	0	0	1	0	0	0	9329	855	30	4	3997	4	MAST4	5	66456396	Missense_Mutation	SNP	C	TCGA-P4-A5E8-01A-11D-A28G-10	10245706	66456396	114458864	16	45641											
EPB41L4A	64097	hgsc.bcm.edu	37	5	111506049	111506049	+	Missense_Mutation	SNP	G	G	A			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr5:111506049G>A	ENST00000261486.5	-	20	1964	c.1688C>T	c.(1687-1689)cCa>cTa	p.P563L	EPB41L4A_ENST00000507810.1_5'UTR	NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	563						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)				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)		CAATCCGGATGGATCCACAAG	0.378																																																0													118	111	113					5																	111506049		1832	4086	5918	SO:0001583	missense	64097			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.1688C>T	chr5.hg19:g.111506049G>A	ENSP00000261486:p.Pro563Leu		A4FUI6	Missense_Mutation	SNP	ENST00000261486.5	hg19	CCDS43350.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.543095	0.86022	.	.	ENSG00000129595	ENST00000261486	D	0.84070	-1.8	5.21	5.21	0.72293	.	0.131978	0.51477	D	0.000100	D	0.86703	0.5996	L	0.32530	0.975	0.58432	D	0.999998	D;D	0.89917	0.986;1.0	P;D	0.87578	0.655;0.998	D	0.85851	0.1404	10	0.36615	T	0.2	.	17.5611	0.87908	0.0:0.0:1.0:0.0	.	563;190	Q9HCS5;Q8N8X1	E41LA_HUMAN;.	L	563	ENSP00000261486:P563L	ENSP00000261486:P563L	P	-	2	0	EPB41L4A	111533948	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	7.409000	0.80053	2.415000	0.81967	0.563000	0.77884	CCA		0.378	EPB41L4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370969.1			A	111506049	G	A	111506049	3	1	773	1	0	0	0	0	1	0	0	0	5157	1348	47	2	388	2	EPB41L4A	5	111506049	Missense_Mutation	SNP	G	TCGA-P4-A5E8-01A-11D-A28G-10	45049653	111506049	69409211	17	45642											
DMXL1	1657	hgsc.bcm.edu	37	5	118556763	118556765	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10	GAG	GAG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr5:118556763_118556765delGAG	ENST00000311085.8	+	36	8281_8283	c.8201_8203delGAG	c.(8200-8205)agagga>aga	p.G2735del	DMXL1_ENST00000505312.1_3'UTR|DMXL1_ENST00000539542.1_In_Frame_Del_p.G2756del	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2735										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)		CAGACTGGCAGAGGAGCATCTGT	0.35																																																0																																										SO:0001651	inframe_deletion	1657			AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"WD repeat domain containing"	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.8201_8203delGAG	chr5.hg19:g.118556766_118556768delGAG	ENSP00000309690:p.Gly2735del			In_Frame_Del	DEL	ENST00000311085.8	hg19	CCDS4125.1																																																																																				0.35	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		-	118556765	GAG	-	118556763	7	5	773	1	0	1	0	1	0	0	0	0	4596	942	33	0	8343	0	DMXL1	5	118556763	In_Frame_Del	DEL	GAG	TCGA-P4-A5E8-01A-11D-A28G-10	7050714	118556763	62358497	18	45643											
TRIM39	56658	hgsc.bcm.edu	37	6	30303731	30303752	+	Splice_Site	DEL	GTCAGGCTTCGAGATGCTTAAG	GTCAGGCTTCGAGATGCTTAAG	-			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10	GTCAGGCTTCGAGATGCTTAAG	GTCAGGCTTCGAGATGCTTAAG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr6:30303731_30303752delGTCAGGCTTCGAGATGCTTAAG	ENST00000396547.1	+	4	919_940	c.759_780delGTCAGGCTTCGAGATGCTTAAG	c.(757-780)cagtcaggcttcgagatgcttaag>ca	p.QSGFEMLK253fs	TRIM39_ENST00000396551.3_Splice_Site_p.QSGFEMLK253fs|TRIM39_ENST00000376656.4_Splice_Site_p.QSGFEMLK253fs|TRIM39-RPP21_ENST00000513556.1_Splice_Site_p.QSGFEMLK165fs|TRIM39_ENST00000540416.1_Splice_Site_p.QSGFEMLK253fs|TRIM39_ENST00000376659.5_Splice_Site_p.QSGFEMLK253fs|TRIM39_ENST00000396548.1_Splice_Site_p.QSGFEMLK253fs			Q9HCM9	TRI39_HUMAN	tripartite motif containing 39	253					apoptotic process (GO:0006915)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|positive regulation of apoptotic signaling pathway (GO:2001235)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.K260Q(1)		ovary(3)	3						AGTGCTTACAGTCAGGCTTCGAGATGCTTAAGGTTCGACCTT	0.577																																																1	Substitution - Missense(1)	lung(1)																																								SO:0001630	splice_region_variant	56658			BC034985	CCDS34377.1, CCDS34378.1	6p22.1	2013-01-09	2011-01-25	2002-06-07	ENSG00000204599	ENSG00000204599		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10065	protein-coding gene	gene with protein product		605700	"ring finger protein 23", "tripartite motif-containing 39"	RNF23		11006080	Standard	NM_021253		Approved			Q9HCM9	OTTHUMG00000031066	ENST00000396547.1:c.780+1GTCAGGCTTCGAGATGCTTAAG>-	chr6.hg19:g.30303731_30303752delGTCAGGCTTCGAGATGCTTAAG			Q5STG3|Q5STG4|Q76BL3|Q8IYT9|Q96IB6	Frame_Shift_Del	DEL	ENST00000396547.1	hg19	CCDS34377.1																																																																																				0.577	TRIM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076086.2	NM_172016	Frame_Shift_Del	-	30303752	GTCAGGCTTCGAGATGCTTAAG	-	30303731	8	5	773	1	0	1	0	1	0	0	1	0	16518	1020	36	0	769	0	TRIM39	6	30303731	Splice_Site	DEL	GTCAGGCTTCGAGATGCTTAAG	TCGA-P4-A5E8-01A-11D-A28G-10		30303731	140811336	19	45644											
NMBR	4829	hgsc.bcm.edu	37	6	142396953	142396953	+	Silent	SNP	G	G	A			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr6:142396953G>A	ENST00000258042.1	-	3	1145	c.1005C>T	c.(1003-1005)ttC>ttT	p.F335F	NMBR_ENST00000480652.1_5'UTR	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	335					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)		GTTGGCTGTTGAAATGCCTCC	0.473																																																0													109	104	106					6																	142396953		2203	4300	6503	SO:0001819	synonymous_variant	4829				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.1005C>T	chr6.hg19:g.142396953G>A			E9KL38|Q5VUK8	Silent	SNP	ENST00000258042.1	hg19	CCDS5196.1																																																																																				0.473	NMBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042479.1			A	142396953	G	A	142396953	2	1	773	1	0	0	0	0	0	0	0	1	10489	1281	45	2		2	NMBR	6	142396953	Silent	SNP	G	TCGA-P4-A5E8-01A-11D-A28G-10	112093222	142396953	28718114	20	45645											
MEOX2	4223	hgsc.bcm.edu	37	7	15725800	15725800	+	Silent	SNP	G	G	A	rs113582077	byFrequency	TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr7:15725800G>A	ENST00000262041.5	-	1	637	c.228C>T	c.(226-228)caC>caT	p.H76H	AC005550.4_ENST00000442176.1_lincRNA|AC005550.5_ENST00000438923.1_lincRNA	NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	76	Poly-His.				angiogenesis (GO:0001525)|blood circulation (GO:0008015)|limb development (GO:0060173)|multicellular organismal development (GO:0007275)|neuron death (GO:0070997)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle tissue development (GO:0007519)|somite specification (GO:0001757)	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)|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 (GO:0043565)	p.H80delH(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		ggtggtgatggtggtggtggt	0.612																																					Esophageal Squamous(140;197 1769 16409 18257 29929)											1	Deletion - In frame(1)	stomach(1)											11	13	13					7																	15725800		2192	4293	6485	SO:0001819	synonymous_variant	4223				CCDS34605.1	7p22.1-p21.3	2014-07-15	2005-12-22		ENSG00000106511	ENSG00000106511		"Homeoboxes / ANTP class : HOXL subclass"	7014	protein-coding gene	gene with protein product	"growth arrest-specific homeobox"	600535	"mesenchyme homeo box 2 (growth arrest-specific homeo box)", "mesenchyme homeobox 2 (growth arrest-specific homeo box)"	GAX		7713505	Standard	NM_005924		Approved	MOX2	uc003stc.3	P50222	OTTHUMG00000152390	ENST00000262041.5:c.228C>T	chr7.hg19:g.15725800G>A			B2R8I7|O75263|Q9UPL6	Silent	SNP	ENST00000262041.5	hg19	CCDS34605.1																																																																																				0.612	MEOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326058.2	NM_005924		A	15725800	G	A	15725800	2	1	773	1	0	0	0	0	0	0	0	1	9476	1252	44	2		2	MEOX2	7	15725800	Silent	SNP	G	TCGA-P4-A5E8-01A-11D-A28G-10		15725800	143412863	21	45646											
HOXA7	3204	hgsc.bcm.edu	37	7	27194707	27194707	+	Missense_Mutation	SNP	G	G	A			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr7:27194707G>A	ENST00000242159.3	-	2	647	c.514C>T	c.(514-516)Cgc>Tgc	p.R172C	RP1-170O19.23_ENST00000498652.1_RNA|HOXA-AS3_ENST00000521197.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA-AS3_ENST00000518947.2_RNA|HOXA-AS3_ENST00000524304.1_RNA|HOXA-AS3_ENST00000521231.1_RNA|HOXA7_ENST00000523796.2_5'UTR|HOXA-AS3_ENST00000518848.1_RNA	NM_006896.3	NP_008827.2	P31268	HXA7_HUMAN	homeobox A7	172					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						TTAATCTGGCGCTCGGTGAGG	0.632																																																0													87	99	95					7																	27194707		2203	4300	6503	SO:0001583	missense	3204				CCDS5408.1	7p15.2	2011-06-20	2005-12-22		ENSG00000122592	ENSG00000122592		"Homeoboxes / ANTP class : HOXL subclass"	5108	protein-coding gene	gene with protein product		142950	"homeo box A7"	HOX1A, HOX1		1973146, 1358459	Standard	NM_006896		Approved		uc003sys.3	P31268	OTTHUMG00000023217	ENST00000242159.3:c.514C>T	chr7.hg19:g.27194707G>A	ENSP00000242159:p.Arg172Cys		A4D191|O43368|O43486|O95655|Q9NSC8|Q9UDM1	Missense_Mutation	SNP	ENST00000242159.3	hg19	CCDS5408.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.349382	0.61183	.	.	ENSG00000122592	ENST00000242159	D	0.96774	-4.12	4.96	3.98	0.46160	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98365	0.9457	M	0.93854	3.465	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98696	1.0698	10	0.87932	D	0	.	12.334	0.55056	0.0:0.0:0.6713:0.3287	.	172	P31268	HXA7_HUMAN	C	172	ENSP00000242159:R172C	ENSP00000242159:R172C	R	-	1	0	HOXA7	27161232	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.882000	0.39648	2.324000	0.78689	0.456000	0.33151	CGC		0.632	HOXA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358695.1			A	27194707	G	A	27194707	3	1	773	1	0	0	0	0	1	0	0	0	7299	1087	38	1	182	1	HOXA7	7	27194707	Missense_Mutation	SNP	G	TCGA-P4-A5E8-01A-11D-A28G-10	11468907	27194707	131943956	22	45647											
SAMD9	54809	hgsc.bcm.edu	37	7	92731495	92731495	+	Frame_Shift_Del	DEL	T	T	-			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr7:92731495delT	ENST00000379958.2	-	3	4185	c.3916delA	c.(3916-3918)atafs	p.I1306fs		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1306						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)			AGACAAAATATATCTACATAT	0.373																																																0													73	81	78					7																	92731495		2197	4295	6492	SO:0001589	frameshift_variant	54809			AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"Sterile alpha motif (SAM) domain containing"	1348	protein-coding gene	gene with protein product		610456	"chromosome 7 open reading frame 5"	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.3916delA	chr7.hg19:g.92731495delT	ENSP00000369292:p.Ile1306fs		A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Frame_Shift_Del	DEL	ENST00000379958.2	hg19	CCDS34680.1																																																																																				0.373	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		-	92731495	T	-	92731495	7	5	773	1	0	1	0	1	0	0	0	0	13832	1406	49	0	857	0	SAMD9	7	92731495	Frame_Shift_Del	DEL	T	TCGA-P4-A5E8-01A-11D-A28G-10	65536788	92731495	66407168	23	45648											
PILRA	29992	hgsc.bcm.edu	37	7	99972037	99972037	+	Silent	SNP	C	C	T			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr7:99972037C>T	ENST00000198536.2	+	2	647	c.435C>T	c.(433-435)acC>acT	p.T145T	PILRA_ENST00000350573.2_Silent_p.T145T|PILRA_ENST00000453419.1_Silent_p.T145T|PILRA_ENST00000394000.2_Silent_p.T145T|PILRA_ENST00000474013.1_3'UTR	NM_013439.2	NP_038467.2	Q9UKJ1	PILRA_HUMAN	paired immunoglobin-like type 2 receptor alpha	145	Ig-like V-type.				signal transduction (GO:0007165)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	15	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCGAGGGGACCAAACTCTCCA	0.592																																																0													76	73	74					7																	99972037		2203	4300	6503	SO:0001819	synonymous_variant	29992			AF161080	CCDS5691.1, CCDS5692.1, CCDS47660.1	7q22.1	2013-01-11			ENSG00000085514	ENSG00000085514		"Immunoglobulin superfamily / V-set domain containing"	20396	protein-coding gene	gene with protein product		605341				10660620	Standard	NM_178272		Approved	FDF03	uc003uuo.1	Q9UKJ1	OTTHUMG00000155248	ENST00000198536.2:c.435C>T	chr7.hg19:g.99972037C>T			Q8NHI1	Silent	SNP	ENST00000198536.2	hg19	CCDS5691.1																																																																																				0.592	PILRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339016.1	NM_013439		T	99972037	C	T	99972037	2	4	773	1	0	0	0	0	0	0	0	1	11927	581	21	2		2	PILRA	7	99972037	Silent	SNP	C	TCGA-P4-A5E8-01A-11D-A28G-10	7240542	99972037	59166626	24	45649											
KIF13B	23303	hgsc.bcm.edu	37	8	28984749	28984749	+	Missense_Mutation	SNP	C	C	G			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr8:28984749C>G	ENST00000524189.1	-	25	3150	c.3112G>C	c.(3112-3114)Gtg>Ctg	p.V1038L	CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1038					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)		GATTCCTGCACTGACTTCACT	0.443																																																0													149	147	148					8																	28984749		1920	4132	6052	SO:0001583	missense	23303			AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"Kinesins"	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.3112G>C	chr8.hg19:g.28984749C>G	ENSP00000427900:p.Val1038Leu		B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Missense_Mutation	SNP	ENST00000524189.1	hg19	CCDS55217.1	.	.	.	.	.	.	.	.	.	.	C	19.36	3.812352	0.70912	.	.	ENSG00000197892	ENST00000524189	T	0.77620	-1.11	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.77665	0.4164	M	0.66939	2.045	0.80722	D	1	B	0.32620	0.378	B	0.38378	0.272	T	0.78155	-0.2314	10	0.54805	T	0.06	.	12.1601	0.54099	0.0:0.9224:0.0:0.0776	.	1038	F8VPJ2	.	L	1038	ENSP00000427900:V1038L	ENSP00000427900:V1038L	V	-	1	0	KIF13B	29040668	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.510000	0.60455	2.649000	0.89929	0.655000	0.94253	GTG		0.443	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1			G	28984749	C	G	28984749	3	3	773	1	0	0	0	0	1	0	0	0	8277	565	20	4	2432	4	KIF13B	8	28984749	Missense_Mutation	SNP	C	TCGA-P4-A5E8-01A-11D-A28G-10		28984749	117379273	25	45650											
DCAF13	25879	hgsc.bcm.edu	37	8	104432551	104432551	+	Missense_Mutation	SNP	G	G	T			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr8:104432551G>T	ENST00000297579.5	+	2	863	c.586G>T	c.(586-588)Gct>Tct	p.A196S	DCAF13_ENST00000521999.1_Intron|DCAF13_ENST00000519682.1_Missense_Mutation_p.A40S|DCAF13_ENST00000521971.1_Missense_Mutation_p.A40S|DCAF13_ENST00000521716.1_Missense_Mutation_p.A40S	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	44					protein ubiquitination (GO:0016567)|rRNA processing (GO:0006364)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						ATATATAAGAGCTTTAAATGC	0.388																																																0													102	96	98					8																	104432551		2203	4300	6503	SO:0001583	missense	25879			AK074725	CCDS34934.1	8q22.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000164934	ENSG00000164934		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	24535	protein-coding gene	gene with protein product			"WD repeats and SOF1 domain containing"	WDSOF1		11042152	Standard	NM_015420		Approved	DKFZP564O0463, Gm83, HSPC064	uc003yln.3	Q9NV06	OTTHUMG00000164888	ENST00000297579.5:c.586G>T	chr8.hg19:g.104432551G>T	ENSP00000297579:p.Ala196Ser		Q3MII9|Q8NCH8|Q8TC51|Q96JY7|Q9NZX3	Missense_Mutation	SNP	ENST00000297579.5	hg19	CCDS34934.1	.	.	.	.	.	.	.	.	.	.	G	33	5.265050	0.95399	.	.	ENSG00000164934	ENST00000297579;ENST00000521716;ENST00000521971;ENST00000388778;ENST00000519682	T;T;T;T	0.01313	5.02;5.02;5.02;5.02	5.2	5.2	0.72013	.	0.050275	0.85682	N	0.000000	T	0.16128	0.0388	H	0.96489	3.83	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.13818	-1.0495	10	0.87932	D	0	-21.6277	18.7279	0.91722	0.0:0.0:1.0:0.0	.	44	B3KME9	.	S	196;40;40;44;40	ENSP00000297579:A196S;ENSP00000430645:A40S;ENSP00000430883:A40S;ENSP00000430411:A40S	ENSP00000297579:A196S	A	+	1	0	DCAF13	104501727	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.260000	0.95568	2.420000	0.82092	0.655000	0.94253	GCT		0.388	DCAF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380797.2	NM_015420		T	104432551	G	T	104432551	3	4	773	1	0	0	0	0	1	0	0	0	4268	971	34	4	592	4	DCAF13	8	104432551	Missense_Mutation	SNP	G	TCGA-P4-A5E8-01A-11D-A28G-10	75447802	104432551	41931471	26	45651											
C9orf93	203238	hgsc.bcm.edu	37	9	15745613	15745613	+	Silent	SNP	C	C	T			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr9:15745613C>T	ENST00000380701.3	+	18	2983	c.2655C>T	c.(2653-2655)gaC>gaT	p.D885D	CCDC171_ENST00000297641.3_Silent_p.D885D	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	885								p.D152D(1)|p.D885D(1)									AATTACAAGACGTCATTGGTA	0.363																																																2	Substitution - coding silent(2)	lung(2)											222	221	221					9																	15745613		2203	4300	6503	SO:0001819	synonymous_variant	203238			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.2655C>T	chr9.hg19:g.15745613C>T			B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Silent	SNP	ENST00000380701.3	hg19	CCDS6481.1	.	.	.	.	.	.	.	.	.	.	C	0.248	-1.008817	0.02112	.	.	ENSG00000164989	ENST00000449575	.	.	.	5.03	-4.4	0.03600	.	.	.	.	.	T	0.40297	0.1111	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37641	-0.9697	4	.	.	.	-0.9084	3.9218	0.09247	0.3234:0.4014:0.0625:0.2128	.	.	.	.	M	125	.	.	T	+	2	0	C9orf93	15735613	0.998000	0.40836	0.941000	0.38009	0.154000	0.21943	0.535000	0.23114	-0.699000	0.05077	-1.604000	0.00809	ACG		0.363	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051768.4	NM_173550		T	15745613	C	T	15745613	2	4	773	1	0	0	0	0	0	0	0	1	2508	535	19	1		1	C9orf93	9	15745613	Silent	SNP	C	TCGA-P4-A5E8-01A-11D-A28G-10		15745613	125467818	27	45652											
ITIH5	80760	hgsc.bcm.edu	37	10	7621949	7621949	+	Missense_Mutation	SNP	C	C	T	rs368004189		TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr10:7621949C>T	ENST00000256861.6	-	9	1265	c.1187G>A	c.(1186-1188)cGg>cAg	p.R396Q	ITIH5_ENST00000397145.2_Missense_Mutation_p.R396Q|ITIH5_ENST00000397146.2_Missense_Mutation_p.R396Q|ITIH5_ENST00000446830.2_Missense_Mutation_p.R178Q|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000298441.6_Missense_Mutation_p.R182Q	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	396	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						GGACACGCTCCGGTCTCCAAT	0.632																																																0								C	GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	79	69	72		1187,1187,545	4.4	1	10		72	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	ITIH5	NM_001001851.2,NM_030569.6,NM_032817.5	43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	396/703,396/943,182/729	7621949	1,13005	2203	4300	6503	SO:0001583	missense	80760					10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"inter-alpha (globulin) inhibitor H5"			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.1187G>A	chr10.hg19:g.7621949C>T	ENSP00000256861:p.Arg396Gln		Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000256861.6	hg19		.	.	.	.	.	.	.	.	.	.	C	14.84	2.656967	0.47467	0.0	1.16E-4	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000298441;ENST00000446830;ENST00000397145	T;T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12;-1.12	5.33	4.41	0.53225	von Willebrand factor, type A (3);	0.152288	0.64402	D	0.000015	D	0.83792	0.5331	.	.	.	0.31433	N	0.672876	P;D;D	0.69078	0.948;0.997;0.997	P;P;P	0.60886	0.745;0.88;0.809	D	0.84790	0.0778	9	0.72032	D	0.01	-30.2968	10.6617	0.45706	0.0:0.8514:0.0:0.1486	.	396;396;182	G5E9D8;Q86UX2;Q86UX2-3	.;ITIH5_HUMAN;.	Q	396;396;182;178;396	ENSP00000256861:R396Q;ENSP00000380333:R396Q;ENSP00000298441:R182Q;ENSP00000387969:R178Q;ENSP00000380332:R396Q	ENSP00000256861:R396Q	R	-	2	0	ITIH5	7661955	1.000000	0.71417	0.994000	0.49952	0.106000	0.19336	2.775000	0.47702	2.491000	0.84063	0.561000	0.74099	CGG		0.632	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		T	7621949	C	T	7621949	3	4	773	1	0	0	0	0	1	0	0	0	7909	652	23	1	1788	1	ITIH5	10	7621949	Missense_Mutation	SNP	C	TCGA-P4-A5E8-01A-11D-A28G-10		7621949	127912798	28	45653											
KIAA1217	56243	hgsc.bcm.edu	37	10	24832228	24832229	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10	AG	AG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr10:24832228_24832229delAG	ENST00000376454.3	+	19	4059_4060	c.4029_4030delAG	c.(4027-4032)acagatfs	p.D1344fs	KIAA1217_ENST00000376451.2_Frame_Shift_Del_p.D1027fs|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000307544.6_Intron	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1344					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						TTATCACGACAGATTTTGGCCA	0.411																																																0																																										SO:0001589	frameshift_variant	56243			BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"sickle tail"					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.4029_4030delAG	chr10.hg19:g.24832228_24832229delAG	ENSP00000365637:p.Asp1344fs		A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Frame_Shift_Del	DEL	ENST00000376454.3	hg19	CCDS31165.1																																																																																				0.411	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		-	24832229	AG	-	24832228	7	5	773	1	0	1	0	1	0	0	0	0	8218	175	7	0	4103	0	KIAA1217	10	24832228	Frame_Shift_Del	DEL	AG	TCGA-P4-A5E8-01A-11D-A28G-10	17210279	24832228	110702519	29	45654											
CREB3L1	90993	hgsc.bcm.edu	37	11	46342259	46342259	+	Splice_Site	SNP	A	A	G	rs79068197|rs386373762|rs386373761		TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr11:46342259A>G	ENST00000529193.1	+	12	1974		c.e12-1		CREB3L1_ENST00000288400.3_Splice_Site			Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like 1						regulation of bone mineralization (GO:0030500)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|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)		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		TTCTCTCTCCAGGATCTGGGC	0.577			T	FUS	myxofibrosarcoma																																Pancreas(3;159 194 19597 26278 47995)		Dom	yes		11	11p11.2	90993	cAMP responsive element binding protein 3-like 1		M	0													89	92	91					11																	46342259		1996	4166	6162	SO:0001630	splice_region_variant	90993				CCDS53620.1	11q11	2013-01-10				ENSG00000157613		"basic leucine zipper proteins"	18856	protein-coding gene	gene with protein product	"BBF-2 homolog (drosophila)"						Standard	NM_052854		Approved	OASIS	uc021qil.1	Q96BA8		ENST00000529193.1:c.1524-1A>G	chr11.hg19:g.46342259A>G			Q8N2D5|Q96CP0	Splice_Site	SNP	ENST00000529193.1	hg19	CCDS53620.1	.	.	.	.	.	.	.	.	.	.	A	16.47	3.131944	0.56828	.	.	ENSG00000157613	ENST00000529193;ENST00000288400;ENST00000446415	.	.	.	4.08	4.08	0.47627	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.5834	0.39501	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CREB3L1	46298835	1.000000	0.71417	0.998000	0.56505	0.830000	0.47004	3.943000	0.56621	1.837000	0.53436	0.352000	0.21897	.		0.577	CREB3L1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389702.1	NM_052854	Intron	G	46342259	A	G	46342259	5	3	773	1	0	0	0	0	0	0	1	0	3858	202	7	3	1569	3	CREB3L1	11	46342259	Splice_Site	SNP	A	TCGA-P4-A5E8-01A-11D-A28G-10		46342259	88664257	30	45655											
ACY3	91703	hgsc.bcm.edu	37	11	67413212	67413212	+	Missense_Mutation	SNP	G	G	A	rs368150084		TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr11:67413212G>A	ENST00000255082.3	-	4	553	c.383C>T	c.(382-384)gCg>gTg	p.A128V	ACY3_ENST00000529256.1_Missense_Mutation_p.A7V	NM_080658.1	NP_542389.1	Q96HD9	ACY3_HUMAN	aspartoacylase (aminocyclase) 3	128	Hydrolytic domain. {ECO:0000250}.				viral process (GO:0016032)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aminoacylase activity (GO:0004046)|hydrolase activity, acting on ester bonds (GO:0016788)|metal ion binding (GO:0046872)			endometrium(1)|lung(5)|prostate(2)	8					L-Aspartic Acid(DB00128)	GGAGGACTTCGCGATTAAGCA	0.642																																					GBM(56;346 1011 27014 29495 46841)											0								G	VAL/ALA	2,4398	4.2+/-10.8	0,2,2198	170	152	158		383	0.6	0	11		158	0,8588		0,0,4294	no	missense	ACY3	NM_080658.1	64	0,2,6492	AA,AG,GG		0.0,0.0455,0.0154	benign	128/320	67413212	2,12986	2200	4294	6494	SO:0001583	missense	91703			BC008689	CCDS8175.1	11q13.2	2014-08-08			ENSG00000132744	ENSG00000132744			24104	protein-coding gene	gene with protein product		614413				14656720	Standard	NM_080658		Approved	HCBP1, MGC9740, ACY-3	uc001omq.3	Q96HD9	OTTHUMG00000167283	ENST00000255082.3:c.383C>T	chr11.hg19:g.67413212G>A	ENSP00000255082:p.Ala128Val			Missense_Mutation	SNP	ENST00000255082.3	hg19	CCDS8175.1	.	.	.	.	.	.	.	.	.	.	G	1.017	-0.686076	0.03328	4.55E-4	0.0	ENSG00000132744	ENST00000255082;ENST00000529256	D;D	0.97505	-4.41;-4.41	3.79	0.623	0.17654	.	2.785610	0.01103	N	0.005413	D	0.86049	0.5840	N	0.00347	-1.61	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.82808	-0.0274	10	0.22109	T	0.4	.	4.3548	0.11172	0.2931:0.3178:0.3891:0.0	.	128	Q96HD9	ACY3_HUMAN	V	128;7	ENSP00000255082:A128V;ENSP00000434270:A7V	ENSP00000255082:A128V	A	-	2	0	ACY3	67169788	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.470000	0.06639	-0.081000	0.12662	-0.258000	0.10820	GCG		0.642	ACY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394002.1	NM_080658		A	67413212	G	A	67413212	3	1	773	1	0	0	0	0	1	0	0	0	227	1087	38	1	596	1	ACY3	11	67413212	Missense_Mutation	SNP	G	TCGA-P4-A5E8-01A-11D-A28G-10	21070953	67413212	67593304	31	45656											
POU2AF1	5450	hgsc.bcm.edu	37	11	111228192	111228192	+	Missense_Mutation	SNP	G	G	A			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr11:111228192G>A	ENST00000393067.3	-	4	948	c.434C>T	c.(433-435)cCg>cTg	p.P145L		NM_006235.2	NP_006226.2	Q16633	OBF1_HUMAN	POU class 2 associating factor 1	145					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)		GATGAGTGGCGGAGAGGCATA	0.572			T	BCL6	NHL																																		Dom	yes		11	11q23.1	5450	"POU domain, class 2, associating factor 1 (OBF1)"		L	0													81	70	73					11																	111228192		2201	4297	6498	SO:0001583	missense	5450				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.434C>T	chr11.hg19:g.111228192G>A	ENSP00000376786:p.Pro145Leu		B2R8Z9|Q14983	Missense_Mutation	SNP	ENST00000393067.3	hg19	CCDS31675.1	.	.	.	.	.	.	.	.	.	.	G	11.34	1.610386	0.28712	.	.	ENSG00000110777	ENST00000393067	T	0.28255	1.62	4.95	3.9	0.45041	.	0.326590	0.29376	N	0.012335	T	0.18718	0.0449	N	0.22421	0.69	0.44937	D	0.997956	B	0.28820	0.224	B	0.22601	0.04	T	0.05007	-1.0912	10	0.27082	T	0.32	-8.7718	10.5839	0.45271	0.0:0.0:0.2373:0.7627	.	145	Q16633	OBF1_HUMAN	L	145	ENSP00000376786:P145L	ENSP00000376786:P145L	P	-	2	0	POU2AF1	110733402	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	3.360000	0.52299	0.893000	0.36288	0.492000	0.49549	CCG		0.572	POU2AF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391002.1	NM_006235		A	111228192	G	A	111228192	3	1	773	1	0	0	0	0	1	0	0	0	12272	1116	39	1	344	1	POU2AF1	11	111228192	Missense_Mutation	SNP	G	TCGA-P4-A5E8-01A-11D-A28G-10	43814980	111228192	23778324	32	45657											
HTR3A	3359	hgsc.bcm.edu	37	11	113846045	113846045	+	5'UTR	SNP	G	G	A	rs200513646		TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr11:113846045G>A	ENST00000504030.2	+	0	443				HTR3A_ENST00000375498.2_Missense_Mutation_p.A6T|HTR3A_ENST00000299961.5_5'Flank|HTR3A_ENST00000355556.2_Missense_Mutation_p.A6T|HTR3A_ENST00000535865.1_5'UTR|HTR3A_ENST00000506841.2_5'UTR			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic						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)	TGGAAAGCTCGCTATGCTGCT	0.632													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19934	0.0		0.0	False		,,,				2504	0.0															0								G	THR/ALA,THR/ALA	4,4398	8.1+/-20.4	0,4,2197	62	55	58		16,16	-5.2	0	11		58	0,8592		0,0,4296	yes	missense,missense	HTR3A	NM_213621.3,NM_000869.5	58,58	0,4,6493	AA,AG,GG		0.0,0.0909,0.0308	benign,benign	6/517,6/485	113846045	4,12990	2201	4296	6497	SO:0001623	5_prime_UTR_variant	3359			D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	5297	protein-coding gene	gene with protein product		182139	"5-hydroxytryptamine (serotonin) receptor 3A"	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.-3G>A	chr11.hg19:g.113846045G>A			B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Missense_Mutation	SNP	ENST00000504030.2	hg19		.	.	.	.	.	.	.	.	.	.	G	9.618	1.133138	0.21041	9.09E-4	0.0	ENSG00000166736	ENST00000355556;ENST00000375498	T;T	0.77098	-0.99;-1.07	4.94	-5.23	0.02798	.	.	.	.	.	T	0.54615	0.1869	N	0.08118	0	0.29946	N	0.820675	B;B	0.10296	0.003;0.001	B;B	0.06405	0.002;0.001	T	0.33033	-0.9884	9	0.29301	T	0.29	.	12.1527	0.54059	0.5992:0.0:0.4008:0.0	.	6;6	G5E986;Q7KZM7	.;.	T	6	ENSP00000347754:A6T;ENSP00000364648:A6T	ENSP00000347754:A6T	A	+	1	0	HTR3A	113351255	0.000000	0.05858	0.000000	0.03702	0.240000	0.25518	-1.991000	0.01478	-1.239000	0.02532	-0.119000	0.15052	GCT		0.632	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869		A	113846045	G	A	113846045	1	1	773	0	1	0	0	0	0	0	0	0	7446	1087	38	1		1	HTR3A	11	113846045	5'UTR	SNP	G	TCGA-P4-A5E8-01A-11D-A28G-10	2617853	113846045	21160471	33	45658											
IGFBP6	3489	hgsc.bcm.edu	37	12	53494509	53494509	+	Frame_Shift_Del	DEL	T	T	-			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr12:53494509delT	ENST00000301464.3	+	2	621	c.348delT	c.(346-348)aatfs	p.N116fs	SOAT2_ENST00000301466.3_5'Flank|IGFBP6_ENST00000549628.1_3'UTR|IGFBP6_ENST00000548547.1_Frame_Shift_Del_p.N114fs	NM_002178.2	NP_002169.1	P24592	IBP6_HUMAN	insulin-like growth factor binding protein 6	116					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						CAGAGGAGAATCCTAAGGAGA	0.567																																					Esophageal Squamous(83;1656 1718 30141 34380)											0													95	93	94					12																	53494509		2203	4300	6503	SO:0001589	frameshift_variant	3489				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.348delT	chr12.hg19:g.53494509delT	ENSP00000301464:p.Asn116fs		Q14492	Frame_Shift_Del	DEL	ENST00000301464.3	hg19	CCDS8846.1																																																																																				0.567	IGFBP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405813.1			-	53494509	T	-	53494509	7	5	773	1	0	1	0	1	0	0	0	0	7585	1432	50	0	354	0	IGFBP6	12	53494509	Frame_Shift_Del	DEL	T	TCGA-P4-A5E8-01A-11D-A28G-10		53494509	80357386	34	45659											
HIF1A	3091	hgsc.bcm.edu	37	14	62194216	62194223	+	Frame_Shift_Del	DEL	AACCAACC	AACCAACC	-	rs369217648		TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10	AACCAACC	AACCAACC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr14:62194216_62194223delAACCAACC	ENST00000337138.4	+	6	881_888	c.616_623delAACCAACC	c.(616-624)aaccaacctfs	p.NQP206fs	HIF1A_ENST00000557538.1_Frame_Shift_Del_p.NQP147fs|HIF1A_ENST00000539097.1_Frame_Shift_Del_p.NQP230fs|HIF1A_ENST00000557206.1_3'UTR|HIF1A_ENST00000394997.1_Frame_Shift_Del_p.NQP207fs|HIF1A-AS2_ENST00000554254.1_lincRNA|HIF1A_ENST00000323441.6_Frame_Shift_Del_p.NQP206fs	NM_001530.3	NP_001521.1	Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	206	Interaction with TSGA10. {ECO:0000250}.				angiogenesis (GO:0001525)|axon transport of mitochondrion (GO:0019896)|B-1 B cell homeostasis (GO:0001922)|cardiac ventricle morphogenesis (GO:0003208)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cerebral cortex development (GO:0021987)|collagen metabolic process (GO:0032963)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|digestive tract morphogenesis (GO:0048546)|dopaminergic neuron differentiation (GO:0071542)|elastin metabolic process (GO:0051541)|embryonic hemopoiesis (GO:0035162)|embryonic placenta development (GO:0001892)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial to mesenchymal transition (GO:0001837)|glucose homeostasis (GO:0042593)|heart looping (GO:0001947)|hemoglobin biosynthetic process (GO:0042541)|intestinal epithelial cell maturation (GO:0060574)|lactate metabolic process (GO:0006089)|lactation (GO:0007595)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of bone mineralization (GO:0030502)|negative regulation of growth (GO:0045926)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of TOR signaling (GO:0032007)|neural crest cell migration (GO:0001755)|neural fold elevation formation (GO:0021502)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|oxygen homeostasis (GO:0032364)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine production (GO:0032722)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|vascular endothelial growth factor production (GO:0010573)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|Hsp90 protein binding (GO:0051879)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	Carvedilol(DB01136)	TACCAACAGTAACCAACCTCAGTGTGGG	0.385																																																0																																										SO:0001589	frameshift_variant	3091			U22431	CCDS9753.1, CCDS9754.1, CCDS58324.1	14q23.2	2013-05-21	2008-12-02		ENSG00000100644	ENSG00000100644		"Basic helix-loop-helix proteins"	4910	protein-coding gene	gene with protein product		603348				8786149, 9079689	Standard	NM_001530		Approved	MOP1, HIF-1alpha, PASD8, HIF1, bHLHe78	uc001xfq.2	Q16665	OTTHUMG00000140344	ENST00000337138.4:c.616_623delAACCAACC	chr14.hg19:g.62194216_62194223delAACCAACC	ENSP00000338018:p.Asn206fs		C0LZJ3|Q53XP6|Q96PT9|Q9UPB1	Frame_Shift_Del	DEL	ENST00000337138.4	hg19	CCDS9753.1																																																																																				0.385	HIF1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276977.2	NM_001530		-	62194223	AACCAACC	-	62194216	7	5	773	1	0	1	0	1	0	0	0	0	7105	362	13	0	638	0	HIF1A	14	62194216	Frame_Shift_Del	DEL	AACCAACC	TCGA-P4-A5E8-01A-11D-A28G-10		62194216	45155324	35	45660	488	2									
HIF1A	3091	hgsc.bcm.edu	37	14	62194225	62194225	+	Frame_Shift_Del	DEL	C	C	-			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr14:62194225delC	ENST00000337138.4	+	6	890	c.625delC	c.(625-627)cagfs	p.Q209fs	HIF1A_ENST00000557538.1_Frame_Shift_Del_p.Q150fs|HIF1A_ENST00000539097.1_Frame_Shift_Del_p.Q233fs|HIF1A_ENST00000557206.1_3'UTR|HIF1A_ENST00000394997.1_Frame_Shift_Del_p.Q210fs|HIF1A-AS2_ENST00000554254.1_lincRNA|HIF1A_ENST00000323441.6_Frame_Shift_Del_p.Q209fs	NM_001530.3	NP_001521.1	Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	209	Interaction with TSGA10. {ECO:0000250}.				angiogenesis (GO:0001525)|axon transport of mitochondrion (GO:0019896)|B-1 B cell homeostasis (GO:0001922)|cardiac ventricle morphogenesis (GO:0003208)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cerebral cortex development (GO:0021987)|collagen metabolic process (GO:0032963)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|digestive tract morphogenesis (GO:0048546)|dopaminergic neuron differentiation (GO:0071542)|elastin metabolic process (GO:0051541)|embryonic hemopoiesis (GO:0035162)|embryonic placenta development (GO:0001892)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial to mesenchymal transition (GO:0001837)|glucose homeostasis (GO:0042593)|heart looping (GO:0001947)|hemoglobin biosynthetic process (GO:0042541)|intestinal epithelial cell maturation (GO:0060574)|lactate metabolic process (GO:0006089)|lactation (GO:0007595)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of bone mineralization (GO:0030502)|negative regulation of growth (GO:0045926)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of TOR signaling (GO:0032007)|neural crest cell migration (GO:0001755)|neural fold elevation formation (GO:0021502)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|oxygen homeostasis (GO:0032364)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine production (GO:0032722)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|vascular endothelial growth factor production (GO:0010573)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|Hsp90 protein binding (GO:0051879)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	Carvedilol(DB01136)	TAACCAACCTCAGTGTGGGTA	0.383																																																0													166	142	150					14																	62194225		2203	4300	6503	SO:0001589	frameshift_variant	3091			U22431	CCDS9753.1, CCDS9754.1, CCDS58324.1	14q23.2	2013-05-21	2008-12-02		ENSG00000100644	ENSG00000100644		"Basic helix-loop-helix proteins"	4910	protein-coding gene	gene with protein product		603348				8786149, 9079689	Standard	NM_001530		Approved	MOP1, HIF-1alpha, PASD8, HIF1, bHLHe78	uc001xfq.2	Q16665	OTTHUMG00000140344	ENST00000337138.4:c.625delC	chr14.hg19:g.62194225delC	ENSP00000338018:p.Gln209fs		C0LZJ3|Q53XP6|Q96PT9|Q9UPB1	Frame_Shift_Del	DEL	ENST00000337138.4	hg19	CCDS9753.1																																																																																				0.383	HIF1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276977.2	NM_001530		-	62194225	C	-	62194225	7	5	773	1	0	1	0	1	0	0	0	0	7105	827	29	0	647	0	HIF1A	14	62194225	Frame_Shift_Del	DEL	C	TCGA-P4-A5E8-01A-11D-A28G-10	9	62194225	45155315	36	45661	488	2									
TP53BP1	7158	hgsc.bcm.edu	37	15	43748237	43748237	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr15:43748237G>A	ENST00000263801.3	-	12	2806	c.2554C>T	c.(2554-2556)Cag>Tag	p.Q852*	TP53BP1_ENST00000605155.1_5'UTR|TP53BP1_ENST00000382044.4_Nonsense_Mutation_p.Q857*|TP53BP1_ENST00000450115.2_Nonsense_Mutation_p.Q857*|TP53BP1_ENST00000382039.3_Nonsense_Mutation_p.Q857*	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	852					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)		GTTTGGGGCTGCTGCAACTCC	0.458								Other conserved DNA damage response genes																																								0													181	178	179					15																	43748237		2201	4298	6499	SO:0001587	stop_gained	7158			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"tumor protein p53-binding protein, 1"			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.2554C>T	chr15.hg19:g.43748237G>A	ENSP00000263801:p.Gln852*		F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Nonsense_Mutation	SNP	ENST00000263801.3	hg19	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	G	37	6.362726	0.97507	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115;ENST00000413546	.	.	.	5.37	4.44	0.53790	.	0.405695	0.25091	N	0.033212	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-1.0009	12.5477	0.56210	0.0:0.1669:0.833:0.0	.	.	.	.	X	852;857;857;857;857	.	ENSP00000263801:Q852X	Q	-	1	0	TP53BP1	41535529	0.317000	0.24589	0.067000	0.19924	0.006000	0.05464	1.799000	0.38824	1.364000	0.46038	0.650000	0.86243	CAG		0.458	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			A	43748237	G	A	43748237	4	1	773	1	0	0	0	0	0	1	0	0	16388	1328	46	2	3432	2	TP53BP1	15	43748237	Nonsense_Mutation	SNP	G	TCGA-P4-A5E8-01A-11D-A28G-10		43748237	58783155	37	45662											
ABCC1	4363	hgsc.bcm.edu	37	16	16177358	16177358	+	Missense_Mutation	SNP	G	G	A			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr16:16177358G>A	ENST00000399410.3	+	17	2426	c.2251G>A	c.(2251-2253)Gaa>Aaa	p.E751K	ABCC1_ENST00000345148.5_Missense_Mutation_p.E751K|ABCC1_ENST00000346370.5_Missense_Mutation_p.E751K|ABCC1_ENST00000349029.5_Intron|ABCC1_ENST00000399408.2_Missense_Mutation_p.E751K|ABCC1_ENST00000351154.5_Intron	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	751	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				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)	CCCAGACCTGGAAATCCTGCC	0.517																																																0													82	84	83					16																	16177358		2014	4202	6216	SO:0001583	missense	4363			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.2251G>A	chr16.hg19:g.16177358G>A	ENSP00000382342:p.Glu751Lys		A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Missense_Mutation	SNP	ENST00000399410.3	hg19	CCDS42122.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.334110	0.81801	.	.	ENSG00000103222	ENST00000399410;ENST00000399408;ENST00000346370;ENST00000345148;ENST00000536381	D;D;D;D	0.93906	-3.31;-3.31;-2.69;-3.31	5.29	5.29	0.74685	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.045819	0.85682	D	0.000000	D	0.94122	0.8115	N	0.25890	0.77	0.80722	D	1	P;D;P;P	0.71674	0.877;0.998;0.583;0.877	P;D;P;B	0.80764	0.538;0.994;0.455;0.438	D	0.94049	0.7316	10	0.41790	T	0.15	-18.2126	17.9191	0.88961	0.0:0.0:1.0:0.0	.	751;751;751;751	P33527-4;P33527-3;P33527;P33527-9	.;.;MRP1_HUMAN;.	K	751;751;751;751;425	ENSP00000382342:E751K;ENSP00000382340:E751K;ENSP00000263019:E751K;ENSP00000263014:E751K	ENSP00000263014:E751K	E	+	1	0	ABCC1	16084859	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.549000	0.73900	2.484000	0.83849	0.563000	0.77884	GAA		0.517	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996		A	16177358	G	A	16177358	3	1	773	1	0	0	0	0	1	0	0	0	49	1175	41	2	2317	2	ABCC1	16	16177358	Missense_Mutation	SNP	G	TCGA-P4-A5E8-01A-11D-A28G-10		16177358	74177395	38	45663											
RLTPR	146206	hgsc.bcm.edu	37	16	67683208	67683208	+	Silent	SNP	C	C	T			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr16:67683208C>T	ENST00000334583.6	+	19	2068	c.1740C>T	c.(1738-1740)gaC>gaT	p.D580D	RLTPR_ENST00000545661.1_Silent_p.D544D	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	580	Tropomodulin-like.				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)		TGCAGGACGACGATTGTGTGA	0.612																																																0													64	71	69					16																	67683208		2055	4210	6265	SO:0001819	synonymous_variant	146206			AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein", "leucine rich repeat containing 16C"	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.1740C>T	chr16.hg19:g.67683208C>T			B8X2Z3	Silent	SNP	ENST00000334583.6	hg19	CCDS45513.1																																																																																				0.612	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1	NM_001013838		T	67683208	C	T	67683208	2	4	773	1	0	0	0	0	0	0	0	1	13400	535	19	1		1	RLTPR	16	67683208	Silent	SNP	C	TCGA-P4-A5E8-01A-11D-A28G-10	51505850	67683208	22671545	39	45664											
KRTAP4-5	85289	hgsc.bcm.edu	37	17	39305774	39305775	+	Missense_Mutation	DNP	CT	CT	GC	rs137947981|rs535144703|rs141265645|rs58117746	byFrequency	TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10	C|T	C|T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr17:39305774_39305775CT>GC	ENST00000343246.4	-	1	279_280	c.245_246AG>GC	c.(244-246)cAG>cGC	p.Q82R		NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	82	26 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.Q82H(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			agcaggtggtctggcagcagca	0.653																																																1	Substitution - Missense(1)	lung(1)																																								SO:0001583	missense	85289			AJ406937	CCDS32650.1	17q21.2	2013-06-25			ENSG00000198271	ENSG00000198271		"Keratin associated proteins"	18899	protein-coding gene	gene with protein product						11279113	Standard	NM_033188		Approved	KAP4.5	uc002hwb.3	Q9BYR2	OTTHUMG00000133638	ENST00000343246.4:c.245_246delinsGC	chr17.hg19:g.39305774_39305775delinsGC	ENSP00000340546:p.Gln82Arg			Missense_Mutation	SNP	ENST00000343246.4	hg19	CCDS32650.1																																																																																				0.653	KRTAP4-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257783.1			GC	39305775	CT	GC	39305774	3	3	773	1	0	0	0	0	1	0	0	0	8556	912	32	4	303	4	KRTAP4-5	17	39305774	Missense_Mutation	DNP	CT	TCGA-P4-A5E8-01A-11D-A28G-10		39305774	41889436	40	45665											
SP6	80320	hgsc.bcm.edu	37	17	45925061	45925061	+	Silent	SNP	G	G	A			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr17:45925061G>A	ENST00000536300.1	-	2	1066	c.735C>T	c.(733-735)ccC>ccT	p.P245P	SP6_ENST00000342234.2_Silent_p.P245P	NM_001258248.1	NP_001245177.1	Q3SY56	SP6_HUMAN	Sp6 transcription factor	245					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						TGCCCCCATCGGGCCCACATG	0.672																																																0													21	23	22					17																	45925061		2182	4251	6433	SO:0001819	synonymous_variant	80320				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.735C>T	chr17.hg19:g.45925061G>A			B3KXS4	Silent	SNP	ENST00000536300.1	hg19	CCDS11520.1																																																																																				0.672	SP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441395.1	NM_199262		A	45925061	G	A	45925061	2	1	773	1	0	0	0	0	0	0	0	1	14974	1103	39	1		1	SP6	17	45925061	Silent	SNP	G	TCGA-P4-A5E8-01A-11D-A28G-10	6619287	45925061	35270149	41	45666											
DNAI2	64446	hgsc.bcm.edu	37	17	72306227	72306227	+	Silent	SNP	G	G	T			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr17:72306227G>T	ENST00000311014.6	+	11	1486	c.1419G>T	c.(1417-1419)ctG>ctT	p.L473L	RP11-647F2.2_ENST00000585167.1_RNA|AC103809.1_ENST00000516976.1_RNA|DNAI2_ENST00000307504.5_Silent_p.L330L|DNAI2_ENST00000579490.1_Silent_p.L530L|DNAI2_ENST00000582036.1_Silent_p.L461L|DNAI2_ENST00000446837.2_Silent_p.L473L			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	473					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						GCTCCCAGCTGGGGACAACCA	0.622									Kartagener syndrome																																							0													55	51	52					17																	72306227		2203	4300	6503	SO:0001819	synonymous_variant	64446	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"Axonemal dyneins", "WD repeat domain containing"	18744	protein-coding gene	gene with protein product	"dynein intermediate chain 2"	605483	"dynein, axonemal, intermediate polypeptide 2"			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000311014.6:c.1419G>T	chr17.hg19:g.72306227G>T			C9J0S6|Q8IUW4|Q9H179|Q9NT53	Silent	SNP	ENST00000311014.6	hg19	CCDS11697.1																																																																																				0.622	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442537.1	NM_023036		T	72306227	G	T	72306227	2	4	773	1	0	0	0	0	0	0	0	1	4612	1335	47	4		4	DNAI2	17	72306227	Silent	SNP	G	TCGA-P4-A5E8-01A-11D-A28G-10	26381166	72306227	8888983	42	45667											
RAB40B	10966	hgsc.bcm.edu	37	17	80617514	80617514	+	Missense_Mutation	SNP	T	T	A			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr17:80617514T>A	ENST00000571995.1	-	4	415	c.284A>T	c.(283-285)gAc>gTc	p.D95V	RAB40B_ENST00000538809.2_Missense_Mutation_p.D95V|RAB40B_ENST00000571880.1_5'Flank|RAB40B_ENST00000269347.6_5'UTR	NM_006822.2	NP_006813.1	Q12829	RB40B_HUMAN	RAB40B, member RAS oncogene family	95					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(2)	10	Breast(20;0.00132)|all_neural(118;0.0952)	all_cancers(8;0.072)|all_epithelial(8;0.139)	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			GTTCGCAATGTCATAGACCAG	0.517																																																0													149	114	126					17																	80617514		2203	4300	6503	SO:0001583	missense	10966			U05227	CCDS11816.1	17q25.3	2014-08-12			ENSG00000141542	ENSG00000141542		"RAB, member RAS oncogene"	18284	protein-coding gene	gene with protein product						11697911	Standard	NM_006822		Approved	SEC4L, RAR	uc002kft.3	Q12829	OTTHUMG00000177806	ENST00000571995.1:c.284A>T	chr17.hg19:g.80617514T>A	ENSP00000461785:p.Asp95Val		Q8WVG3	Missense_Mutation	SNP	ENST00000571995.1	hg19	CCDS11816.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.259217	0.80246	.	.	ENSG00000141542	ENST00000269347;ENST00000538809	.	.	.	4.56	4.56	0.56223	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000001	D	0.88093	0.6344	H	0.98155	4.16	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.92358	0.5895	9	0.87932	D	0	.	14.2775	0.66189	0.0:0.0:0.0:1.0	.	95	Q12829	RB40B_HUMAN	V	95;129	.	ENSP00000269347:D95V	D	-	2	0	RAB40B	78210803	1.000000	0.71417	0.997000	0.53966	0.803000	0.45373	7.768000	0.85345	1.992000	0.58205	0.533000	0.62120	GAC		0.517	RAB40B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439007.1			A	80617514	T	A	80617514	3	1	773	1	0	0	0	0	1	0	0	0	12947	1667	58	5	564	5	RAB40B	17	80617514	Missense_Mutation	SNP	T	TCGA-P4-A5E8-01A-11D-A28G-10	8311287	80617514	577696	43	45668											
MBD1	4152	hgsc.bcm.edu	37	18	47802004	47802004	+	Missense_Mutation	SNP	C	C	T			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr18:47802004C>T	ENST00000591416.1	-	8	1189	c.758G>A	c.(757-759)cGc>cAc	p.R253H	MBD1_ENST00000588937.1_Missense_Mutation_p.R253H|MBD1_ENST00000590208.1_Missense_Mutation_p.R253H|MBD1_ENST00000585672.1_Missense_Mutation_p.R204H|MBD1_ENST00000349085.2_Missense_Mutation_p.R253H|MBD1_ENST00000591535.1_Missense_Mutation_p.R253H|MBD1_ENST00000382948.5_Missense_Mutation_p.R253H|MBD1_ENST00000424334.2_Missense_Mutation_p.R279H|MBD1_ENST00000398493.1_Missense_Mutation_p.R253H|MBD1_ENST00000339998.6_Missense_Mutation_p.R253H|MBD1_ENST00000587605.1_Missense_Mutation_p.R253H|MBD1_ENST00000353909.3_Missense_Mutation_p.R204H|MBD1_ENST00000585595.1_Missense_Mutation_p.R253H|MBD1_ENST00000347968.3_Missense_Mutation_p.R253H|MBD1_ENST00000457839.2_Missense_Mutation_p.R253H|MBD1_ENST00000398488.1_Missense_Mutation_p.R253H|MBD1_ENST00000398495.2_Missense_Mutation_p.R253H|MBD1_ENST00000269471.5_Missense_Mutation_p.R253H|MBD1_ENST00000436910.1_Missense_Mutation_p.R253H|MBD1_ENST00000269468.5_Missense_Mutation_p.R253H			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	253					negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.R253L(4)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						TTTCCACTGGCGCCTGAGACC	0.602																																																4	Substitution - Missense(4)	lung(4)											47	47	47					18																	47802004		2203	4300	6503	SO:0001583	missense	4152			Y10746	CCDS11941.1, CCDS11942.1, CCDS11943.1, CCDS11944.1, CCDS32832.1, CCDS56071.1, CCDS56072.1, CCDS56073.1, CCDS59318.1, CCDS59319.1, CCDS59320.1	18q21	2014-02-18			ENSG00000141644	ENSG00000141644			6916	protein-coding gene	gene with protein product		156535				9207790, 10441743	Standard	NM_015844		Approved	PCM1, CXXC3	uc002lem.4	Q9UIS9	OTTHUMG00000132669	ENST00000591416.1:c.758G>A	chr18.hg19:g.47802004C>T	ENSP00000467017:p.Arg253His		A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Missense_Mutation	SNP	ENST00000591416.1	hg19	CCDS11943.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.144536	0.77888	.	.	ENSG00000141644	ENST00000382948;ENST00000353909;ENST00000349085;ENST00000269468;ENST00000347968;ENST00000436910;ENST00000269471;ENST00000424334;ENST00000339998;ENST00000398495;ENST00000457839;ENST00000398493;ENST00000398488	D;D;D;D;D;D;D;D;D;D;D;D;D	0.97232	-4.22;-3.92;-4.04;-4.22;-4.05;-4.18;-4.16;-4.3;-4.17;-4.06;-4.29;-4.05;-4.04	5.29	5.29	0.74685	Zinc finger, CXXC-type (2);	0.000000	0.56097	D	0.000023	D	0.97508	0.9184	L	0.56769	1.78	0.32700	N	0.513027	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	D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;0.998;0.999;1.0;0.999;0.997;0.999;0.996;1.0;0.998;1.0;0.998	D	0.97757	1.0218	10	0.52906	T	0.07	-14.4062	10.2988	0.43639	0.0:0.9098:0.0:0.0902	.	253;279;253;253;253;253;204;253;253;253;253;253	B4DUR3;B4DI41;Q9UIS9-8;A8K654;Q9UIS9-6;Q9UIS9-2;Q9UIS9-5;Q9UIS9-4;Q9UIS9;Q9UIS9-7;B4DXJ5;Q9UIS9-3	.;.;.;.;.;.;.;.;MBD1_HUMAN;.;.;.	H	253;204;253;253;253;253;253;279;253;253;253;253;253	ENSP00000372407:R253H;ENSP00000269469:R204H;ENSP00000342531:R253H;ENSP00000269468:R253H;ENSP00000285102:R253H;ENSP00000409561:R253H;ENSP00000269471:R253H;ENSP00000408846:R279H;ENSP00000339546:R253H;ENSP00000381508:R253H;ENSP00000405268:R253H;ENSP00000381506:R253H;ENSP00000381502:R253H	ENSP00000269468:R253H	R	-	2	0	MBD1	46056002	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.576000	0.46033	2.653000	0.90120	0.655000	0.94253	CGC		0.602	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255926.3	NM_015846		T	47802004	C	T	47802004	3	4	773	1	0	0	0	0	1	0	0	0	9344	768	27	1	1289	1	MBD1	18	47802004	Missense_Mutation	SNP	C	TCGA-P4-A5E8-01A-11D-A28G-10		47802004	30275244	44	45669											
SPTBN4	57731	hgsc.bcm.edu	37	19	41076606	41076606	+	Missense_Mutation	SNP	C	C	T			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr19:41076606C>T	ENST00000352632.3	+	33	7377	c.7291C>T	c.(7291-7293)Ctc>Ttc	p.L2431F	SPTBN4_ENST00000598249.1_Missense_Mutation_p.L2431F|SPTBN4_ENST00000392025.1_Missense_Mutation_p.L1174F			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	2431	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)			CAAGCGCGAGCTCGACGCTAA	0.711																																																0													13	13	13					19																	41076606		2130	4092	6222	SO:0001583	missense	57731			AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"Pleckstrin homology (PH) domain containing"	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.7291C>T	chr19.hg19:g.41076606C>T	ENSP00000263373:p.Leu2431Phe		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	hg19	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	C	14.31	2.496244	0.44352	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000392025	T;T	0.31769	1.48;1.48	4.64	3.59	0.41128	Pleckstrin homology-type (1);Pleckstrin homology domain, spectrin-type (1);Pleckstrin homology domain (3);	0.111049	0.37623	U	0.002018	T	0.36441	0.0967	L	0.42245	1.32	0.80722	D	1	P;P	0.50943	0.94;0.94	P;P	0.51833	0.681;0.681	T	0.08973	-1.0696	10	0.39692	T	0.17	.	13.6768	0.62458	0.0:0.8434:0.1566:0.0	.	1174;2431	C9JY79;Q9H254	.;SPTN4_HUMAN	F	2431;2431;1174	ENSP00000263373:L2431F;ENSP00000375879:L1174F	ENSP00000263373:L2431F	L	+	1	0	SPTBN4	45768446	1.000000	0.71417	1.000000	0.80357	0.028000	0.11728	2.096000	0.41738	1.145000	0.42336	0.491000	0.48974	CTC		0.711	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			T	41076606	C	T	41076606	3	4	773	1	0	0	0	0	1	0	0	0	15126	797	28	2	7511	2	SPTBN4	19	41076606	Missense_Mutation	SNP	C	TCGA-P4-A5E8-01A-11D-A28G-10		41076606	18052377	45	45670											
ZNF577	84765	hgsc.bcm.edu	37	19	52376124	52376124	+	Missense_Mutation	SNP	C	C	A			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr19:52376124C>A	ENST00000301399.5	-	7	1484	c.1119G>T	c.(1117-1119)gaG>gaT	p.E373D	ZNF577_ENST00000451628.2_Missense_Mutation_p.E314D|ZNF577_ENST00000420592.1_Missense_Mutation_p.E314D|ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000485702.1_Intron	NM_032679.2	NP_116068.2	Q9BSK1	ZN577_HUMAN	zinc finger protein 577	373			E -> K (in dbSNP:rs10407547).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TGTGAGTTTTCTCATGTTTAA	0.448																																																0													89	94	92					19																	52376124		2203	4300	6503	SO:0001583	missense	84765			AL832871	CCDS12842.2, CCDS46160.1	19q13.41	2013-09-20			ENSG00000161551	ENSG00000161551		"Zinc fingers, C2H2-type", "-"	28673	protein-coding gene	gene with protein product						12477932	Standard	NM_032679		Approved	MGC4400	uc010yde.2	Q9BSK1	OTTHUMG00000157045	ENST00000301399.5:c.1119G>T	chr19.hg19:g.52376124C>A	ENSP00000301399:p.Glu373Asp		A8K0B4|A8K6Z7|C9JFB9	Missense_Mutation	SNP	ENST00000301399.5	hg19	CCDS12842.2	.	.	.	.	.	.	.	.	.	.	.	7.724	0.697762	0.15106	.	.	ENSG00000161551	ENST00000301399;ENST00000420592;ENST00000451628;ENST00000458390	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	3.06	2.02	0.26589	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.25419	0.0618	N	0.08118	0	0.09310	N	0.999994	B;B	0.25007	0.016;0.116	B;B	0.25884	0.007;0.064	T	0.20840	-1.0263	9	0.87932	D	0	.	4.8679	0.13618	0.0:0.6085:0.0:0.3915	.	373;314	Q9BSK1;Q9BSK1-2	ZN577_HUMAN;.	D	373;314;314;373	ENSP00000301399:E373D;ENSP00000413476:E314D;ENSP00000389652:E314D;ENSP00000404509:E373D	ENSP00000301399:E373D	E	-	3	2	ZNF577	57067936	0.000000	0.05858	0.007000	0.13788	0.327000	0.28475	0.103000	0.15292	0.592000	0.29728	0.655000	0.94253	GAG		0.448	ZNF577-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347243.1	NM_032679		A	52376124	C	A	52376124	3	1	773	1	0	0	0	0	1	0	0	0	18014	912	32	4	342	4	ZNF577	19	52376124	Missense_Mutation	SNP	C	TCGA-P4-A5E8-01A-11D-A28G-10	11299518	52376124	6752859	46	45671											
EPB41L1	2036	hgsc.bcm.edu	37	20	34778710	34778710	+	Missense_Mutation	SNP	C	C	G			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr20:34778710C>G	ENST00000338074.2	+	11	1452	c.1291C>G	c.(1291-1293)Ctt>Gtt	p.L431V	EPB41L1_ENST00000373946.3_Missense_Mutation_p.L400V|EPB41L1_ENST00000373950.2_Missense_Mutation_p.L334V|EPB41L1_ENST00000373941.1_Missense_Mutation_p.L431V|EPB41L1_ENST00000441639.1_Missense_Mutation_p.L369V|EPB41L1_ENST00000202028.5_Missense_Mutation_p.L369V	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	431					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)					GTCCCGCAGCCTTGATGGAGG	0.602																																																0													47	42	43					20																	34778710		2203	4300	6503	SO:0001583	missense	2036			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.1291C>G	chr20.hg19:g.34778710C>G	ENSP00000337168:p.Leu431Val		O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Missense_Mutation	SNP	ENST00000338074.2	hg19	CCDS13271.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.499624	0.64298	.	.	ENSG00000088367	ENST00000202028;ENST00000373950;ENST00000397315;ENST00000373951;ENST00000441639;ENST00000373946;ENST00000344237;ENST00000338074;ENST00000373941	D;D;D;D;D;D	0.86297	-1.95;-1.92;-1.95;-1.94;-2.1;-2.1	5.48	5.48	0.80851	.	0.292495	0.38005	N	0.001858	D	0.84844	0.5562	N	0.24115	0.695	0.39057	D	0.960441	B;P;P;P;B;P	0.45569	0.249;0.861;0.539;0.794;0.3;0.783	B;P;B;P;B;P	0.47891	0.186;0.471;0.439;0.487;0.13;0.56	D	0.87969	0.2735	10	0.87932	D	0	-4.2264	17.9268	0.88986	0.0:1.0:0.0:0.0	.	431;431;400;334;334;369	B7Z653;Q9H4G0;Q9H4G0-4;Q9H4G0-3;B3KUB6;Q9H4G0-2	.;E41L1_HUMAN;.;.;.;.	V	369;334;431;334;369;400;5;431;431	ENSP00000202028:L369V;ENSP00000363061:L334V;ENSP00000399214:L369V;ENSP00000363057:L400V;ENSP00000337168:L431V;ENSP00000363052:L431V	ENSP00000202028:L369V	L	+	1	0	EPB41L1	34242124	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.048000	0.30379	2.556000	0.86216	0.561000	0.74099	CTT		0.602	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078978.3	NM_012156		G	34778710	C	G	34778710	3	3	773	1	0	0	0	0	1	0	0	0	5154	681	24	4	1329	4	EPB41L1	20	34778710	Missense_Mutation	SNP	C	TCGA-P4-A5E8-01A-11D-A28G-10		34778710	28246810	47	45672											
FAM83D	81610	hgsc.bcm.edu	37	20	37570604	37570604	+	Silent	SNP	G	G	A			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr20:37570604G>A	ENST00000217429.4	+	2	617	c.576G>A	c.(574-576)gtG>gtA	p.V192V		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	162					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)				ACCTGTAGGTGATTGCAGTGG	0.483																																																0													149	152	151					20																	37570604		2058	4205	6263	SO:0001819	synonymous_variant	81610			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.576G>A	chr20.hg19:g.37570604G>A			B4E1I7|Q5THR2|Q68EN1|Q6P457|Q7Z6H0|Q96DF5|Q96N89|Q9BVM8	Silent	SNP	ENST00000217429.4	hg19	CCDS42872.1																																																																																				0.483	FAM83D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079211.1			A	37570604	G	A	37570604	2	1	773	1	0	0	0	0	0	0	0	1	5638	1277	45	2		2	FAM83D	20	37570604	Silent	SNP	G	TCGA-P4-A5E8-01A-11D-A28G-10	2791894	37570604	25454916	48	45673											
PLXNB2	23654	hgsc.bcm.edu	37	22	50728592	50728593	+	Missense_Mutation	DNP	TT	TT	AC			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr22:50728592_50728593TT>AC	ENST00000449103.1	-	3	561_562	c.421_422AA>GT	c.(421-423)AAg>GTg	p.K141V	PLXNB2_ENST00000359337.4_Missense_Mutation_p.K141V			O15031	PLXB2_HUMAN	plexin B2	141	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		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)		CACGAAAGACTTCTCCCCGCTG	0.644																																																0																																										SO:0001583	missense	23654				CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"Plexins"	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.421_422delinsAC	chr22.hg19:g.50728592_50728593delinsAC	ENSP00000409171:p.Lys141Val		A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	ENST00000449103.1	hg19	CCDS43035.1																																																																																				0.644	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		AC	50728593	TT	AC	50728592	3	1	773	1	0	0	0	0	1	0	0	0	12126	1609	56	5	5234	5	PLXNB2	22	50728592	Missense_Mutation	DNP	TT	TCGA-P4-A5E8-01A-11D-A28G-10		50728592	575974	49	45674											
ARSE	415	hgsc.bcm.edu	37	X	2861169	2861169	+	Missense_Mutation	SNP	C	C	T			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chrX:2861169C>T	ENST00000381134.3	-	8	1129	c.1063G>A	c.(1063-1065)Ggc>Agc	p.G355S	ARSE_ENST00000540563.1_Missense_Mutation_p.G310S|ARSE_ENST00000545496.1_Missense_Mutation_p.G380S	NM_000047.2	NP_000038.2	P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	355					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)				AGGGAACCGCCGTGATCCGAC	0.473																																																0													89	83	85					X																	2861169		2203	4300	6503	SO:0001583	missense	415			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.1063G>A	chrX.hg19:g.2861169C>T	ENSP00000370526:p.Gly355Ser		Q53FT2|Q53FU8	Missense_Mutation	SNP	ENST00000381134.3	hg19	CCDS14122.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.687965	0.68271	.	.	ENSG00000157399	ENST00000540563;ENST00000545496;ENST00000381134	D;D;D	0.99809	-6.86;-6.86;-6.86	3.66	2.8	0.32819	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.109135	0.64402	D	0.000009	D	0.99887	0.9946	H	0.99929	4.97	0.51482	D	0.999923	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96969	0.9707	10	0.87932	D	0	.	9.8836	0.41249	0.0:0.8911:0.0:0.1089	.	310;380;355	F5H324;F5GYY5;P51690	.;.;ARSE_HUMAN	S	310;380;355	ENSP00000438198:G310S;ENSP00000441417:G380S;ENSP00000370526:G355S	ENSP00000370526:G355S	G	-	1	0	ARSE	2871169	0.999000	0.42202	0.003000	0.11579	0.000000	0.00434	6.039000	0.70972	0.545000	0.28902	-0.191000	0.12829	GGC		0.473	ARSE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055643.1	NM_000047		T	2861169	C	T	2861169	3	4	773	1	0	0	0	0	1	0	0	0	990	652	23	1	722	1	ARSE	23	2861169	Missense_Mutation	SNP	C	TCGA-P4-A5E8-01A-11D-A28G-10		2861169	152409391	50	45675											
EPHA2	1969	hgsc.bcm.edu	37	1	16459720	16459721	+	Frame_Shift_Ins	INS	-	-	TG			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr1:16459720_16459721insTG	ENST00000358432.5	-	11	2161_2162	c.2007_2008insCA	c.(2005-2010)cagttcfs	p.F670fs		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	670	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	TGGTGGCTGAACTGGCCCATGA	0.629																																																0																																										SO:0001589	frameshift_variant	1969			BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3386	protein-coding gene	gene with protein product		176946	"EphA2"	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.2007_2008insCA	chr1.hg19:g.16459720_16459721insTG	ENSP00000351209:p.Phe670fs		B5A968|Q8N3Z2	Frame_Shift_Ins	INS	ENST00000358432.5	hg19	CCDS169.1																																																																																				0.629	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431		TG	16459721	-	TG	16459720	7	5	774	1	0	1	1	0	0	0	0	0	5169	43	2	0	950	0	EPHA2	1	16459720	Frame_Shift_Ins	INS	-	TCGA-P4-A5EA-01A-11D-A28G-10		16459720	232790901	1	45676											
MAP3K6	9064	hgsc.bcm.edu	37	1	27687435	27687435	+	Missense_Mutation	SNP	C	C	T			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr1:27687435C>T	ENST00000493901.1	-	15	2136	c.1897G>A	c.(1897-1899)Gag>Aag	p.E633K	MAP3K6_ENST00000357582.2_Missense_Mutation_p.E633K|MAP3K6_ENST00000374040.3_Missense_Mutation_p.E625K	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	633					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)		CCCGCGCCCTCCGCCTCCTCC	0.736																																																0													10	14	13					1																	27687435		2139	4246	6385	SO:0001583	missense	9064			AF100318	CCDS299.1, CCDS72738.1	1p36.11	2011-06-09			ENSG00000142733	ENSG00000142733		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6858	protein-coding gene	gene with protein product	"apoptosis signal regulating kinase 2"	604468				9875215	Standard	XM_005246029		Approved	MAPKKK6, ASK2, MEKK6	uc001bny.1	O95382	OTTHUMG00000004631	ENST00000493901.1:c.1897G>A	chr1.hg19:g.27687435C>T	ENSP00000419591:p.Glu633Lys		A2ACE8|A2VDG4|A2VDG5|Q59HF4|Q5SSD4|Q75PK3|Q96B75	Missense_Mutation	SNP	ENST00000493901.1	hg19	CCDS299.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.901459	0.33535	.	.	ENSG00000142733	ENST00000374040;ENST00000493901;ENST00000545447;ENST00000357582	T;T;T	0.68025	-0.3;-0.3;-0.3	4.67	3.73	0.42828	.	.	.	.	.	T	0.61999	0.2392	M	0.62723	1.935	0.09310	N	1	B;B	0.25609	0.13;0.079	B;B	0.24701	0.055;0.025	T	0.54860	-0.8230	9	0.48119	T	0.1	.	8.9619	0.35851	0.0:0.8957:0.0:0.1043	.	625;633	O95382-3;O95382	.;M3K6_HUMAN	K	625;633;356;633	ENSP00000363152:E625K;ENSP00000419591:E633K;ENSP00000350195:E633K	ENSP00000350195:E633K	E	-	1	0	MAP3K6	27560022	0.005000	0.15991	0.073000	0.20177	0.013000	0.08279	1.483000	0.35497	2.433000	0.82419	0.655000	0.94253	GAG		0.736	MAP3K6-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000013469.2	NM_004672		T	27687435	C	T	27687435	3	4	774	1	0	0	0	0	1	0	0	0	9256	864	30	2	2033	2	MAP3K6	1	27687435	Missense_Mutation	SNP	C	TCGA-P4-A5EA-01A-11D-A28G-10	11227715	27687435	221563186	2	45677											
NASP	4678	hgsc.bcm.edu	37	1	46073053	46073073	+	In_Frame_Del	DEL	CCAAAAAAACAGAAGACAAGT	CCAAAAAAACAGAAGACAAGT	-			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10	CCAAAAAAACAGAAGACAAGT	CCAAAAAAACAGAAGACAAGT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr1:46073053_46073073delCCAAAAAAACAGAAGACAAGT	ENST00000350030.3	+	6	557_577	c.470_490delCCAAAAAAACAGAAGACAAGT	c.(469-492)gccaaaaaaacagaagacaagtct>gct	p.KKTEDKS158del	NASP_ENST00000351223.3_Intron|NASP_ENST00000402363.3_In_Frame_Del_p.KKTEDKS160del|NASP_ENST00000372052.4_Intron|NASP_ENST00000537798.1_In_Frame_Del_p.KKTEDKS94del	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	158	Glu-rich (acidic).				blastocyst development (GO:0001824)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone exchange (GO:0043486)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	Hsp90 protein binding (GO:0051879)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					AAAGAAGAAGCCAAAAAAACAGAAGACAAGTCTTTGGCAAA	0.412																																																0																																										SO:0001651	inframe_deletion	4678			M97856	CCDS524.1, CCDS525.1, CCDS55597.1	1p34.1	2013-01-10			ENSG00000132780	ENSG00000132780		"Tetratricopeptide (TTC) repeat domain containing"	7644	protein-coding gene	gene with protein product		603185				1426632	Standard	NM_002482		Approved	FLB7527, FLJ31599, FLJ35510, MGC19722, MGC20372, MGC2297, DKFZp547F162, PRO1999	uc001coi.2	P49321	OTTHUMG00000007826	ENST00000350030.3:c.470_490delCCAAAAAAACAGAAGACAAGT	chr1.hg19:g.46073053_46073073delCCAAAAAAACAGAAGACAAGT	ENSP00000255120:p.Lys158_Ser164del		A8K6H2|B4DQP3|D3DQ07|F5H3J2|Q53GW5|Q5T622|Q5T625|Q96A69|Q9BTW2	In_Frame_Del	DEL	ENST00000350030.3	hg19	CCDS524.1																																																																																				0.412	NASP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021533.2	NM_002482		-	46073073	CCAAAAAAACAGAAGACAAGT	-	46073053	7	5	774	1	0	1	0	1	0	0	0	0	10174	739	26	0	569	0	NASP	1	46073053	In_Frame_Del	DEL	CCAAAAAAACAGAAGACAAGT	TCGA-P4-A5EA-01A-11D-A28G-10	18385618	46073053	203177568	3	45678											
PHTF1	10745	hgsc.bcm.edu	37	1	114255942	114255943	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10	TT	TT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr1:114255942_114255943delTT	ENST00000369604.1	-	8	1224_1225	c.741_742delAA	c.(739-744)acaagafs	p.R248fs	PHTF1_ENST00000393357.2_Frame_Shift_Del_p.R248fs|PHTF1_ENST00000369596.2_Frame_Shift_Del_p.R195fs|PHTF1_ENST00000357783.2_Frame_Shift_Del_p.R248fs|PHTF1_ENST00000369600.1_Frame_Shift_Del_p.R195fs|PHTF1_ENST00000474926.1_5'UTR|PHTF1_ENST00000369598.1_Frame_Shift_Del_p.R203fs|PHTF1_ENST00000447664.2_Intron			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	248					transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCTTTCTCTCTTGTTTGCCACA	0.371																																																0																																										SO:0001589	frameshift_variant	10745			AJ011863	CCDS861.1	1p13-p11	2008-07-18			ENSG00000116793	ENSG00000116793			8939	protein-coding gene	gene with protein product		604950		PHTF		10395808	Standard	NM_006608		Approved		uc009wgp.1	Q9UMS5	OTTHUMG00000011800	ENST00000369604.1:c.741_742delAA	chr1.hg19:g.114255942_114255943delTT	ENSP00000358617:p.Arg248fs		Q5VWP7|Q5VWP8|Q9BUP2|Q9H1X8	Frame_Shift_Del	DEL	ENST00000369604.1	hg19	CCDS861.1																																																																																				0.371	PHTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032666.1	NM_006608		-	114255943	TT	-	114255942	7	5	774	1	0	1	0	1	0	0	0	0	11864	1617	56	0	1594	0	PHTF1	1	114255942	Frame_Shift_Del	DEL	TT	TCGA-P4-A5EA-01A-11D-A28G-10	68182889	114255942	134994679	4	45679											
TUFT1	7286	hgsc.bcm.edu	37	1	151552139	151552139	+	Silent	SNP	A	A	G	rs201062061		TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr1:151552139A>G	ENST00000368849.3	+	11	1001	c.939A>G	c.(937-939)aaA>aaG	p.K313K	TUFT1_ENST00000368848.2_Silent_p.K288K|TUFT1_ENST00000392712.3_Silent_p.K258K|TUFT1_ENST00000538902.1_Silent_p.K332K|TUFT1_ENST00000353024.3_Silent_p.K254K	NM_020127.2	NP_064512.1	Q9NNX1	TUFT1_HUMAN	tuftelin 1	313					bone mineralization (GO:0030282)|odontogenesis (GO:0042476)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	structural constituent of tooth enamel (GO:0030345)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			AGAATTCAAAAGCTGTGATCC	0.547																																																0													58	53	55					1																	151552139		2203	4300	6503	SO:0001819	synonymous_variant	7286			AF254260	CCDS1000.1, CCDS44223.1	1q21	2008-02-05			ENSG00000143367	ENSG00000143367			12422	protein-coding gene	gene with protein product		600087				7919663	Standard	NM_020127		Approved		uc001eyl.3	Q9NNX1	OTTHUMG00000012536	ENST00000368849.3:c.939A>G	chr1.hg19:g.151552139A>G			B2RD57|D3DV21|D3DV22|Q5T384|Q5T385|Q9BU28|Q9H5L1	Silent	SNP	ENST00000368849.3	hg19	CCDS1000.1																																																																																				0.547	TUFT1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035022.1	NM_020127		G	151552139	A	G	151552139	2	3	774	1	0	0	0	0	0	0	0	1	16777	69	3	3		3	TUFT1	1	151552139	Silent	SNP	A	TCGA-P4-A5EA-01A-11D-A28G-10	37296197	151552139	97698482	5	45680											
GATAD2B	57459	hgsc.bcm.edu	37	1	153792180	153792180	+	Missense_Mutation	SNP	G	G	C			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr1:153792180G>C	ENST00000368655.4	-	3	610	c.367C>G	c.(367-369)Cca>Gca	p.P123A		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	123					ATP-dependent chromatin remodeling (GO:0043044)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ATGATGTCTGGTGAGGGAGTT	0.408																																																0													111	112	112					1																	153792180		2203	4300	6503	SO:0001583	missense	57459			AF411836	CCDS1054.1	1q21.3	2013-01-25			ENSG00000143614	ENSG00000143614		"GATA zinc finger domain containing"	30778	protein-coding gene	gene with protein product	"transcription repressor p66 beta component of the MeCP1 complex"	614998				10574461, 11756549	Standard	NM_020699		Approved	P66beta	uc001fdb.4	Q8WXI9	OTTHUMG00000037162	ENST00000368655.4:c.367C>G	chr1.hg19:g.153792180G>C	ENSP00000357644:p.Pro123Ala		D3DUZ2|Q5VUR2|Q7LG68|Q9ULS0	Missense_Mutation	SNP	ENST00000368655.4	hg19	CCDS1054.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.821458	0.90873	.	.	ENSG00000143614	ENST00000368655	T	0.41400	1.0	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.53029	0.1771	L	0.57536	1.79	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	T	0.42982	-0.9419	10	0.35671	T	0.21	-15.871	17.5737	0.87942	0.0:0.0:1.0:0.0	.	123	Q8WXI9	P66B_HUMAN	A	123	ENSP00000357644:P123A	ENSP00000357644:P123A	P	-	1	0	GATAD2B	152058804	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.086000	0.94088	2.682000	0.91365	0.557000	0.71058	CCA		0.408	GATAD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090305.1	NM_020699		C	153792180	G	C	153792180	3	2	774	1	0	0	0	0	1	0	0	0	6263	1261	44	4	1450	4	GATAD2B	1	153792180	Missense_Mutation	SNP	G	TCGA-P4-A5EA-01A-11D-A28G-10	2240041	153792180	95458441	6	45681											
ASPRV1	151516	hgsc.bcm.edu	37	2	70188625	70188626	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10	AG	AG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr2:70188625_70188626delAG	ENST00000320256.4	-	1	771_772	c.195_196delCT	c.(193-198)ctctgtfs	p.C66fs	PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000596259.1_RNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000415222.1_RNA|PCBP1-AS1_ENST00000418564.1_RNA|PCBP1-AS1_ENST00000419542.1_RNA	NM_152792.2	NP_690005.2			aspartic peptidase, retroviral-like 1											endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						AGAAACCCACAGAGCAGTGTCG	0.653																																																0																																										SO:0001589	frameshift_variant	151516			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.195_196delCT	chr2.hg19:g.70188627_70188628delAG	ENSP00000315383:p.Cys66fs			Frame_Shift_Del	DEL	ENST00000320256.4	hg19	CCDS1897.1																																																																																				0.653	ASPRV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334161.1	NM_152792		-	70188626	AG	-	70188625	7	5	774	1	0	1	0	1	0	0	0	0	1058	188	7	0	839	0	ASPRV1	2	70188625	Frame_Shift_Del	DEL	AG	TCGA-P4-A5EA-01A-11D-A28G-10		70188625	173010748	7	45682											
SEMA4C	54910	hgsc.bcm.edu	37	2	97526794	97526794	+	Missense_Mutation	SNP	G	G	A			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr2:97526794G>A	ENST00000305476.5	-	15	2203	c.2071C>T	c.(2071-2073)Cgg>Tgg	p.R691W	ANKRD39_ENST00000393537.4_5'Flank	NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	691					cell migration in hindbrain (GO:0021535)|cerebellum development (GO:0021549)|muscle cell differentiation (GO:0042692)|neural tube closure (GO:0001843)|positive regulation of stress-activated MAPK cascade (GO:0032874)|semaphorin-plexin signaling pathway (GO:0071526)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle membrane (GO:0030672)	receptor activity (GO:0004872)			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						AGCTCTTCCCGCAGCCGCCGG	0.687																																																0													22	27	25					2																	97526794		2200	4287	6487	SO:0001583	missense	54910			AB051526	CCDS2029.1	2q11.2	2013-01-11			ENSG00000168758	ENSG00000168758		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10731	protein-coding gene	gene with protein product	"M-Sema F"	604462		SEMAI		7656991	Standard	NM_017789		Approved	Semacl1, Semaf	uc002sxh.4	Q9C0C4	OTTHUMG00000130535	ENST00000305476.5:c.2071C>T	chr2.hg19:g.97526794G>A	ENSP00000306844:p.Arg691Trp		Q32MJ3|Q7Z5X0	Missense_Mutation	SNP	ENST00000305476.5	hg19	CCDS2029.1	.	.	.	.	.	.	.	.	.	.	G	18.78	3.697364	0.68386	.	.	ENSG00000168758	ENST00000305476	T	0.78126	-1.15	4.89	4.89	0.63831	.	0.414868	0.24111	N	0.041444	T	0.73923	0.3649	N	0.08118	0	0.45097	D	0.998111	D;D;D	0.89917	0.997;0.999;1.0	P;P;D	0.67548	0.798;0.874;0.952	T	0.77851	-0.2434	10	0.87932	D	0	.	10.5898	0.45304	0.0:0.0:0.699:0.301	.	691;401;232	Q9C0C4;Q6P5A5;Q71RG3	SEM4C_HUMAN;.;.	W	691	ENSP00000306844:R691W	ENSP00000306844:R691W	R	-	1	2	SEMA4C	96890521	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.946000	0.56644	2.531000	0.85337	0.561000	0.74099	CGG		0.687	SEMA4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252957.1	NM_017789		A	97526794	G	A	97526794	3	1	774	1	0	0	0	0	1	0	0	0	14039	1086	38	1	434	1	SEMA4C	2	97526794	Missense_Mutation	SNP	G	TCGA-P4-A5EA-01A-11D-A28G-10	27338169	97526794	145672579	8	45683											
TTL	150465	hgsc.bcm.edu	37	2	113260608	113260609	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10	AT	AT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr2:113260608_113260609delAT	ENST00000233336.6	+	5	916_917	c.725_726delAT	c.(724-726)aatfs	p.N242fs		NM_153712.4	NP_714923.1	Q8NG68	TTL_HUMAN	tubulin tyrosine ligase	242	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)|microtubule cytoskeleton organization (GO:0000226)|regulation of axon extension (GO:0030516)		ATP binding (GO:0005524)|tubulin-tyrosine ligase activity (GO:0004835)			breast(1)|large_intestine(2)|ovary(1)	4		Ovarian(717;0.024)		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)		CATTTGACCAATCACTGCATTC	0.376			T	ETV6	ALL																																		Dom	yes		2	2q13	150465	tubulin tyrosine ligase		L	0																																										SO:0001589	frameshift_variant	150465				CCDS2096.1	2q13	2010-04-21			ENSG00000114999	ENSG00000114999	6.3.2.25		21586	protein-coding gene	gene with protein product		608291				11431336	Standard	NM_153712		Approved	MGC46235	uc002thu.3	Q8NG68	OTTHUMG00000131316	ENST00000233336.6:c.725_726delAT	chr2.hg19:g.113260608_113260609delAT	ENSP00000233336:p.Asn242fs		Q585T3|Q7Z302|Q8N426	Frame_Shift_Del	DEL	ENST00000233336.6	hg19	CCDS2096.1																																																																																				0.376	TTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254085.2	NM_153712		-	113260609	AT	-	113260608	7	5	774	1	0	1	0	1	0	0	0	0	16726	101	4	0	743	0	TTL	2	113260608	Frame_Shift_Del	DEL	AT	TCGA-P4-A5EA-01A-11D-A28G-10	15733814	113260608	129938765	9	45684											
GOLGA4	2803	hgsc.bcm.edu	37	3	37365077	37365078	+	Splice_Site	DEL	AG	AG	-			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10	AG	AG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr3:37365077_37365078delAG	ENST00000361924.2	+	14	2075		c.e14-1		GOLGA4_ENST00000356847.4_Splice_Site|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4						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						TTTAATTAACAGAGAATTCTTG	0.307																																																0																																										SO:0001630	splice_region_variant	2803			U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"golgin 245"	602509	"golgi autoantigen, golgin subfamily a, 4"			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.1702-1AG>-	chr3.hg19:g.37365079_37365080delAG			F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Splice_Site	DEL	ENST00000361924.2	hg19	CCDS2666.1																																																																																				0.307	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078	Intron	-	37365078	AG	-	37365077	8	5	774	1	0	1	0	1	0	0	1	0	6557	202	7	0	1824	0	GOLGA4	3	37365077	Splice_Site	DEL	AG	TCGA-P4-A5EA-01A-11D-A28G-10		37365077	160657353	10	45685											
NFKBIZ	64332	hgsc.bcm.edu	37	3	101572345	101572345	+	Frame_Shift_Del	DEL	C	C	-			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr3:101572345delC	ENST00000326172.5	+	5	1090	c.975delC	c.(973-975)aacfs	p.N325fs	NFKBIZ_ENST00000394054.2_Frame_Shift_Del_p.N225fs|NFKBIZ_ENST00000326151.5_Intron	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	325	Required for transcriptional activity. {ECO:0000250}.				inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						ATGAACCAAACCTCTTTGATG	0.468																																																0													128	124	125					3																	101572345		2203	4300	6503	SO:0001589	frameshift_variant	64332			AF548362	CCDS2946.1, CCDS43123.1	3p12-q12	2013-01-10			ENSG00000144802	ENSG00000144802		"Ankyrin repeat domain containing"	29805	protein-coding gene	gene with protein product	"IL-1 inducible nuclear ankyrin-repeat protein"	608004				12565889, 16513645	Standard	NM_031419		Approved	MAIL, FLJ34463, INAP	uc003dvp.3	Q9BYH8	OTTHUMG00000159194	ENST00000326172.5:c.975delC	chr3.hg19:g.101572345delC	ENSP00000325663:p.Asn325fs		B3KNR2|D3DN54|Q8IUL4|Q8NAZ8	Frame_Shift_Del	DEL	ENST00000326172.5	hg19	CCDS2946.1																																																																																				0.468	NFKBIZ-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353793.1	NM_031419		-	101572345	C	-	101572345	7	5	774	1	0	1	0	1	0	0	0	0	10385	506	18	0	993	0	NFKBIZ	3	101572345	Frame_Shift_Del	DEL	C	TCGA-P4-A5EA-01A-11D-A28G-10	64207268	101572345	96450085	11	45686											
CD96	10225	hgsc.bcm.edu	37	3	111297955	111297955	+	Missense_Mutation	SNP	C	C	T			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr3:111297955C>T	ENST00000283285.5	+	5	804	c.673C>T	c.(673-675)Ctt>Ttt	p.L225F	CD96_ENST00000438817.2_Missense_Mutation_p.L209F|CD96_ENST00000352690.4_Missense_Mutation_p.L209F	NM_198196.2	NP_937839.1	P40200	TACT_HUMAN	CD96 molecule	225	Ig-like V-type 2.				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						TAGAGTCAAGCTTGGTACAGA	0.423									Opitz Trigonocephaly syndrome																																							0													120	108	112					3																	111297955		2203	4300	6503	SO:0001583	missense	10225	Familial Cancer Database	C syndrome, Trigonocephaly syndrome	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.673C>T	chr3.hg19:g.111297955C>T	ENSP00000283285:p.Leu225Phe		Q5JPB3	Missense_Mutation	SNP	ENST00000283285.5	hg19	CCDS2959.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.734|5.734	0.319968|0.319968	0.10845|0.10845	.|.	.|.	ENSG00000153283|ENSG00000153283	ENST00000465428|ENST00000352690;ENST00000283285;ENST00000438817	.|T;T;T	.|0.73258	.|1.54;-0.73;1.54	5.18|5.18	1.28|1.28	0.21552|0.21552	.|Immunoglobulin subtype (1);	.|0.567715	.|0.14720	.|N	.|0.302408	T|T	0.59702|0.59702	0.2213|0.2213	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	.|P;P;P;P	.|0.44946	.|0.761;0.846;0.761;0.761	.|B;P;B;B	.|0.46585	.|0.322;0.521;0.443;0.322	T|T	0.50800|0.50800	-0.8785|-0.8785	5|10	.|0.51188	.|T	.|0.08	-0.8167|-0.8167	5.5178|5.5178	0.16916|0.16916	0.2453:0.5587:0.1213:0.0747|0.2453:0.5587:0.1213:0.0747	.|.	.|209;209;225;209	.|E9PEJ1;P40200-2;P40200;Q8WUE2	.|.;.;TACT_HUMAN;.	V|F	50|209;225;209	.|ENSP00000342040:L209F;ENSP00000283285:L225F;ENSP00000389801:L209F	.|ENSP00000283285:L225F	A|L	+|+	2|1	0|0	CD96|CD96	112780645|112780645	0.002000|0.002000	0.14202|0.14202	0.000000|0.000000	0.03702|0.03702	0.017000|0.017000	0.09413|0.09413	0.121000|0.121000	0.15667|0.15667	-0.203000|-0.203000	0.10251|0.10251	-1.886000|-1.886000	0.00541|0.00541	GCT|CTT		0.423	CD96-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354312.2			T	111297955	C	T	111297955	3	4	774	1	0	0	0	0	1	0	0	0	3050	797	28	2	691	2	CD96	3	111297955	Missense_Mutation	SNP	C	TCGA-P4-A5EA-01A-11D-A28G-10	9725610	111297955	86724475	12	45687											
ZIC1	7545	hgsc.bcm.edu	37	3	147128794	147128794	+	Nonsense_Mutation	SNP	G	G	T			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr3:147128794G>T	ENST00000282928.4	+	1	1624	c.895G>T	c.(895-897)Gag>Tag	p.E299*		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	299					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GCACACGGGCGAGAAGCCCTT	0.562																																																0													91	94	93					3																	147128794		2203	4300	6503	SO:0001587	stop_gained	7545			D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"Zinc fingers, C2H2-type"	12872	protein-coding gene	gene with protein product		600470	"Zic family member 1 (odd-paired Drosophila homolog)", "Zic family member 1 (odd-paired homolog, Drosophila)"			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.895G>T	chr3.hg19:g.147128794G>T	ENSP00000282928:p.Glu299*		Q2M3N1	Nonsense_Mutation	SNP	ENST00000282928.4	hg19	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	G	43	9.911065	0.99294	.	.	ENSG00000152977	ENST00000282928	.	.	.	3.89	3.89	0.44902	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.2006	0.82071	0.0:0.0:1.0:0.0	.	.	.	.	X	299	.	ENSP00000282928:E299X	E	+	1	0	ZIC1	148611484	1.000000	0.71417	0.997000	0.53966	0.889000	0.51656	7.528000	0.81941	1.862000	0.54008	0.561000	0.74099	GAG		0.562	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		T	147128794	G	T	147128794	4	4	774	1	0	0	0	0	0	1	0	0	17683	1059	37	4	897	4	ZIC1	3	147128794	Nonsense_Mutation	SNP	G	TCGA-P4-A5EA-01A-11D-A28G-10	35830839	147128794	50893636	13	45688											
MAEA	10296	hgsc.bcm.edu	37	4	1332242	1332242	+	Missense_Mutation	SNP	G	G	A			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr4:1332242G>A	ENST00000303400.4	+	8	995	c.932G>A	c.(931-933)aGc>aAc	p.S311N	MAEA_ENST00000510794.1_Missense_Mutation_p.S310N|MAEA_ENST00000512289.1_3'UTR|MAEA_ENST00000505177.2_Missense_Mutation_p.S349N|MAEA_ENST00000452175.2_Missense_Mutation_p.S232N|MAEA_ENST00000264750.6_Missense_Mutation_p.S270N|MAEA_ENST00000514708.1_Missense_Mutation_p.S243N|MAEA_ENST00000505839.1_Missense_Mutation_p.S263N	NM_001017405.1	NP_001017405.1	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher	311					cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cytoskeleton organization (GO:0007010)|enucleate erythrocyte development (GO:0048822)|erythrocyte maturation (GO:0043249)|negative regulation of myeloid cell apoptotic process (GO:0033033)|regulation of mitotic cell cycle (GO:0007346)	actomyosin contractile ring (GO:0005826)|cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)		WF10(DB05389)	AGCTCCAAGAGCCCTGACTGC	0.662																																																0													61	61	61					4																	1332242		2203	4300	6503	SO:0001583	missense	10296			AF084928	CCDS33936.1, CCDS33937.1, CCDS75090.1	4p16.3	2012-07-20			ENSG00000090316	ENSG00000090316			13731	protein-coding gene	gene with protein product	"GID complex subunit 9, FYV10 homolog (S. cerevisiae)"	606801				9763581	Standard	XM_005272243		Approved	EMP, GID9	uc003gda.3	Q7L5Y9	OTTHUMG00000160169	ENST00000303400.4:c.932G>A	chr4.hg19:g.1332242G>A	ENSP00000302830:p.Ser311Asn		O95285|Q5JB54|Q6ZRD6|Q9BQ11|Q9H9V6|Q9H9Z4|Q9NW84	Missense_Mutation	SNP	ENST00000303400.4	hg19	CCDS33936.1	.	.	.	.	.	.	.	.	.	.	G	7.811	0.715683	0.15306	.	.	ENSG00000090316	ENST00000303400;ENST00000505177;ENST00000264750;ENST00000382947;ENST00000539495;ENST00000452175;ENST00000514708;ENST00000510794;ENST00000505839	T;T;T;T;T;T;T	0.10763	2.84;2.84;2.84;2.84;2.84;2.84;2.84	5.41	4.44	0.53790	.	0.178095	0.64402	D	0.000005	T	0.04770	0.0129	N	0.20328	0.56	0.46260	D	0.998958	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	0.0;0.001;0.0;0.001;0.0;0.0	T	0.34254	-0.9836	10	0.05959	T	0.93	-33.7543	3.5266	0.07761	0.3654:0.0:0.6346:0.0	.	310;349;97;243;270;311	B4DVN3;E7ESC7;B3KRN7;D6RIB6;Q7L5Y9-3;Q7L5Y9	.;.;.;.;.;MAEA_HUMAN	N	311;349;270;243;290;232;243;310;263	ENSP00000302830:S311N;ENSP00000422215:S349N;ENSP00000264750:S270N;ENSP00000411415:S232N;ENSP00000427512:S243N;ENSP00000426807:S310N;ENSP00000424436:S263N	ENSP00000264750:S270N	S	+	2	0	MAEA	1322242	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.331000	0.79192	2.531000	0.85337	0.655000	0.94253	AGC		0.662	MAEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359511.1	NM_005882		A	1332242	G	A	1332242	3	1	774	1	0	0	0	0	1	0	0	0	9155	971	34	2	962	2	MAEA	4	1332242	Missense_Mutation	SNP	G	TCGA-P4-A5EA-01A-11D-A28G-10		1332242	189822034	14	45689											
TLL1	7092	hgsc.bcm.edu	37	4	166996130	166996130	+	Silent	SNP	T	T	C			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr4:166996130T>C	ENST00000061240.2	+	17	2936	c.2289T>C	c.(2287-2289)caT>caC	p.H763H	TLL1_ENST00000507499.1_Silent_p.H786H	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	763	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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)		TTGTGCTACATGACAATAAAC	0.403																																																0													296	244	262					4																	166996130		2203	4300	6503	SO:0001819	synonymous_variant	7092			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.2289T>C	chr4.hg19:g.166996130T>C			B2RMU2|Q96AN3|Q9NQS4	Silent	SNP	ENST00000061240.2	hg19	CCDS3811.1																																																																																				0.403	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1			C	166996130	T	C	166996130	2	2	774	1	0	0	0	0	0	0	0	1	15950	1461	51	3		3	TLL1	4	166996130	Silent	SNP	T	TCGA-P4-A5EA-01A-11D-A28G-10	165663888	166996130	24158146	15	45690											
MAP3K1	4214	hgsc.bcm.edu	37	5	56183244	56183245	+	Frame_Shift_Ins	INS	-	-	TA			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr5:56183244_56183245insTA	ENST00000399503.3	+	18	4154_4155	c.4154_4155insTA	c.(4153-4158)agaattfs	p.RI1385fs		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1385	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		CAGAGACTAAGAATTGCAGATT	0.421																																																0																																										SO:0001589	frameshift_variant	4214			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6848	protein-coding gene	gene with protein product		600982	"mitogen-activated protein kinase kinase kinase 1"	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	Exception_encountered	chr5.hg19:g.56183244_56183245insTA	ENSP00000382423:p.Arg1385fs			Frame_Shift_Ins	INS	ENST00000399503.3	hg19	CCDS43318.1																																																																																				0.421	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066		TA	56183245	-	TA	56183244	7	5	774	1	0	1	1	0	0	0	0	0	9245	942	33	0	4224	0	MAP3K1	5	56183244	Frame_Shift_Ins	INS	-	TCGA-P4-A5EA-01A-11D-A28G-10		56183244	124732016	16	45691											
FCHO2	115548	hgsc.bcm.edu	37	5	72359736	72359736	+	Missense_Mutation	SNP	C	C	A			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr5:72359736C>A	ENST00000430046.2	+	18	1530	c.1414C>A	c.(1414-1416)Ctt>Att	p.L472I	FCHO2_ENST00000341845.6_Missense_Mutation_p.L472I|FCHO2_ENST00000512348.1_Missense_Mutation_p.L439I	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	472	Ser-rich.				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)		CAGACCAAAGCTTACTTCAGG	0.403																																																0													65	61	62					5																	72359736		1850	4087	5937	SO:0001583	missense	115548			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.1414C>A	chr5.hg19:g.72359736C>A	ENSP00000393776:p.Leu472Ile		A8K6W7|B2RNQ9|B4DHK0|E9PG79|Q0JTJ3|Q96CF5	Missense_Mutation	SNP	ENST00000430046.2	hg19	CCDS47230.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.967806	0.74131	.	.	ENSG00000157107	ENST00000430046;ENST00000341845;ENST00000512348	T;T;T	0.39056	1.1;1.11;3.55	5.62	5.62	0.85841	.	0.164332	0.40728	N	0.001021	T	0.52933	0.1765	L	0.56769	1.78	0.41260	D	0.986778	D;D	0.67145	0.99;0.996	P;P	0.60415	0.76;0.874	T	0.43956	-0.9359	10	0.18710	T	0.47	-12.133	12.5234	0.56073	0.0:0.8806:0.0:0.1194	.	439;472	E9PG79;Q0JRZ9	.;FCHO2_HUMAN	I	472;472;439	ENSP00000393776:L472I;ENSP00000344034:L472I;ENSP00000427296:L439I	ENSP00000344034:L472I	L	+	1	0	FCHO2	72395492	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.706000	0.47135	2.637000	0.89404	0.650000	0.86243	CTT		0.403	FCHO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368795.3	XM_291142		A	72359736	C	A	72359736	3	1	774	1	0	0	0	0	1	0	0	0	5790	797	28	4	1484	4	FCHO2	5	72359736	Missense_Mutation	SNP	C	TCGA-P4-A5EA-01A-11D-A28G-10	16176492	72359736	108555524	17	45692											
RASA1	5921	hgsc.bcm.edu	37	5	86564698	86564699	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10	CC	CC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr5:86564698_86564699delCC	ENST00000274376.6	+	1	994_995	c.430_431delCC	c.(430-432)cccfs	p.P145fs	RASA1_ENST00000506290.1_5'Flank|RASA1_ENST00000456692.2_5'Flank|RASA1_ENST00000512763.1_5'Flank	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	145					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)		CCCTTACCTGCCCCCTTTGGGG	0.624																																																0																																										SO:0001589	frameshift_variant	5921				CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	9871	protein-coding gene	gene with protein product	"capillary malformation-arteriovenous malformation"	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.430_431delCC	chr5.hg19:g.86564700_86564701delCC	ENSP00000274376:p.Pro145fs		B2R6W3|Q9UDI1	Frame_Shift_Del	DEL	ENST00000274376.6	hg19	CCDS34200.1																																																																																				0.624	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1	NM_002890		-	86564699	CC	-	86564698	7	5	774	1	0	1	0	1	0	0	0	0	13066	739	26	0	432	0	RASA1	5	86564698	Frame_Shift_Del	DEL	CC	TCGA-P4-A5EA-01A-11D-A28G-10	14204962	86564698	94350562	18	45693											
ANKHD1-EIF4EBP3	8637	hgsc.bcm.edu	37	5	139928645	139928646	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10	AG	AG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr5:139928645_139928646delAG	ENST00000310331.2	+	2	330_331	c.258_259delAG	c.(256-261)acagagfs	p.E89fs	ANKHD1_ENST00000297183.6_Frame_Shift_Del_p.R2612fs|SRA1_ENST00000520427.1_5'Flank|ANKHD1-EIF4EBP3_ENST00000532219.1_Frame_Shift_Del_p.R2612fs	NM_003732.2	NP_003723.1	O60516	4EBP3_HUMAN	eukaryotic translation initiation factor 4E binding protein 3	89					negative regulation of translational initiation (GO:0045947)	eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	translation repressor activity (GO:0030371)			endometrium(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCAGGAGACAGAGGAAGAGAT	0.564																																																0																																										SO:0001589	frameshift_variant	404734			AF038869	CCDS4226.1	5q31.3	2007-07-18			ENSG00000243056	ENSG00000243056			3290	protein-coding gene	gene with protein product		603483				9593750	Standard	NM_003732		Approved	4E-BP3	uc003lfy.1	O60516	OTTHUMG00000129498	ENST00000310331.2:c.258_259delAG	chr5.hg19:g.139928647_139928648delAG	ENSP00000308472:p.Glu89fs			Frame_Shift_Del	DEL	ENST00000310331.2	hg19	CCDS4226.1																																																																																				0.564	EIF4EBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251668.2	NM_003732		-	139928646	AG	-	139928645	7	5	774	1	0	1	0	1	0	0	0	0	629	180	7	0	7972	0	ANKHD1-EIF4EBP3	5	139928645	Frame_Shift_Del	DEL	AG	TCGA-P4-A5EA-01A-11D-A28G-10	53363947	139928645	40986615	19	45694											
PCDHB5	26167	hgsc.bcm.edu	37	5	140515133	140515134	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10	AG	AG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr5:140515133_140515134delAG	ENST00000231134.5	+	1	334_335	c.117_118delAG	c.(115-120)acagaafs	p.E40fs		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	40	Cadherin 1. {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(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)			CAGAAGAAACAGAAAGTGGCTA	0.49																																																0																																										SO:0001589	frameshift_variant	26167			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.117_118delAG	chr5.hg19:g.140515133_140515134delAG	ENSP00000231134:p.Glu40fs		Q549F4|Q9UFU9	Frame_Shift_Del	DEL	ENST00000231134.5	hg19	CCDS4247.1																																																																																				0.49	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		-	140515134	AG	-	140515133	7	5	774	1	0	1	0	1	0	0	0	0	11547	175	7	0	119	0	PCDHB5	5	140515133	Frame_Shift_Del	DEL	AG	TCGA-P4-A5EA-01A-11D-A28G-10	586488	140515133	40400127	20	45695											
MTRF1L	54516	hgsc.bcm.edu	37	6	153315714	153315714	+	Missense_Mutation	SNP	C	C	G			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr6:153315714C>G	ENST00000367233.5	-	4	620	c.621G>C	c.(619-621)aaG>aaC	p.K207N	MTRF1L_ENST00000464135.1_5'UTR|MTRF1L_ENST00000367231.5_Missense_Mutation_p.K207N|MTRF1L_ENST00000367230.1_Missense_Mutation_p.K171N	NM_019041.5	NP_061914.3	Q9UGC7	RF1ML_HUMAN	mitochondrial translational release factor 1-like	207						mitochondrion (GO:0005739)	translation release factor activity, codon specific (GO:0016149)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	10		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.24e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0888)		GCTTTTCTGTCTTTGGCACTC	0.502																																																0													164	143	150					6																	153315714		2203	4300	6503	SO:0001583	missense	54516			BC011873	CCDS5243.1, CCDS47502.1, CCDS75540.1	6q25-q26	2008-02-05			ENSG00000112031	ENSG00000112031			21051	protein-coding gene	gene with protein product		613542					Standard	NM_019041		Approved		uc003qpi.4	Q9UGC7	OTTHUMG00000015857	ENST00000367233.5:c.621G>C	chr6.hg19:g.153315714C>G	ENSP00000356202:p.Lys207Asn		B3KTA0|Q3KR06|Q5TF44|Q5TF50|Q96CC5|Q96EX4|Q96K40	Missense_Mutation	SNP	ENST00000367233.5	hg19	CCDS5243.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.560810	0.65538	.	.	ENSG00000112031	ENST00000367233;ENST00000367231;ENST00000367230;ENST00000414771;ENST00000448966	T;T;T;T;T	0.11604	2.76;2.76;2.76;2.76;2.76	4.97	3.11	0.35812	.	0.096199	0.64402	D	0.000001	T	0.18718	0.0449	M	0.78801	2.425	0.40959	D	0.984603	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	D;D;D;D	0.76071	0.964;0.973;0.987;0.974	T	0.01102	-1.1451	10	0.56958	D	0.05	-12.0679	8.928	0.35652	0.0:0.7454:0.0:0.2546	.	171;207;171;207	B4DMX1;Q9UGC7-2;Q9UGC7-4;Q9UGC7	.;.;.;RF1ML_HUMAN	N	207;207;171;58;71	ENSP00000356202:K207N;ENSP00000356200:K207N;ENSP00000356199:K171N;ENSP00000414383:K58N;ENSP00000415113:K71N	ENSP00000356199:K171N	K	-	3	2	MTRF1L	153357407	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	1.344000	0.33941	0.558000	0.29135	0.585000	0.79938	AAG		0.502	MTRF1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042764.1	NM_019041		G	153315714	C	G	153315714	3	3	774	1	0	0	0	0	1	0	0	0	9962	912	32	4	537	4	MTRF1L	6	153315714	Missense_Mutation	SNP	C	TCGA-P4-A5EA-01A-11D-A28G-10		153315714	17799353	21	45696											
AUTS2	26053	hgsc.bcm.edu	37	7	70231266	70231266	+	Silent	SNP	G	G	A			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr7:70231266G>A	ENST00000342771.4	+	9	1956	c.1635G>A	c.(1633-1635)ccG>ccA	p.P545P	AUTS2_ENST00000406775.2_Silent_p.P545P	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	545	His-rich.									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)		cCTTCACGCCGTTCCCCCACG	0.642																																																0													278	255	263					7																	70231266		2203	4300	6503	SO:0001819	synonymous_variant	26053			AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.1635G>A	chr7.hg19:g.70231266G>A			A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Silent	SNP	ENST00000342771.4	hg19	CCDS5539.1	.	.	.	.	.	.	.	.	.	.	G	10.81	1.455200	0.26161	.	.	ENSG00000158321	ENST00000443672	.	.	.	5.56	-2.87	0.05700	.	.	.	.	.	T	0.50343	0.1610	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45131	-0.9282	4	.	.	.	-11.6373	6.7468	0.23466	0.1273:0.5083:0.2255:0.1389	.	.	.	.	H	87	.	.	R	+	2	0	AUTS2	69869202	0.862000	0.29867	0.976000	0.42696	0.997000	0.91878	-0.056000	0.11787	-0.475000	0.06852	0.561000	0.74099	CGT		0.642	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			A	70231266	G	A	70231266	2	1	774	1	0	0	0	0	0	0	0	1	1225	1132	40	1		1	AUTS2	7	70231266	Silent	SNP	G	TCGA-P4-A5EA-01A-11D-A28G-10		70231266	88907397	22	45697											
ZNF7	7553	hgsc.bcm.edu	37	8	146066868	146066869	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10	TC	TC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr8:146066868_146066869delTC	ENST00000528372.1	+	5	616_617	c.376_377delTC	c.(376-378)tctfs	p.S126fs	ZNF7_ENST00000532393.1_3'UTR|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000325241.6_Frame_Shift_Del_p.S126fs|ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000544249.1_Frame_Shift_Del_p.S30fs|ZNF7_ENST00000446747.2_Frame_Shift_Del_p.S137fs|ZNF7_ENST00000529819.1_Intron			P17097	ZNF7_HUMAN	zinc finger protein 7	126					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)		TGGAGACGTTTCTGATTCTGAG	0.485																																																0																																										SO:0001589	frameshift_variant	7553			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.376_377delTC	chr8.hg19:g.146066868_146066869delTC	ENSP00000432724:p.Ser126fs		B4DT08|D3DWN6|P17015|Q8N8Y4	Frame_Shift_Del	DEL	ENST00000528372.1	hg19	CCDS6435.1																																																																																				0.485	ZNF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382660.1	NM_003416		-	146066869	TC	-	146066868	7	5	774	1	0	1	0	1	0	0	0	0	18107	1783	62	0	390	0	ZNF7	8	146066868	Frame_Shift_Del	DEL	TC	TCGA-P4-A5EA-01A-11D-A28G-10		146066868	297154	23	45698											
CAMK1D	57118	hgsc.bcm.edu	37	10	12856228	12856228	+	Missense_Mutation	SNP	G	G	A			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr10:12856228G>A	ENST00000378847.3	+	7	1013	c.676G>A	c.(676-678)Gac>Aac	p.D226N	CAMK1D_ENST00000378845.1_Missense_Mutation_p.D226N	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	226	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				inflammatory response (GO:0006954)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis (GO:0050766)|positive regulation of respiratory burst (GO:0060267)|regulation of dendrite development (GO:0050773)|regulation of granulocyte chemotaxis (GO:0071622)	calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		TGATGAAAATGACTCCAAGCT	0.483																																																0													101	90	94					10																	12856228		2203	4300	6503	SO:0001583	missense	57118			AF286366	CCDS7091.1, CCDS7092.1	10p13	2003-11-05			ENSG00000183049	ENSG00000183049			19341	protein-coding gene	gene with protein product		607957				11050006	Standard	XM_006717481		Approved	CKLiK	uc001ilo.3	Q8IU85	OTTHUMG00000017683	ENST00000378847.3:c.676G>A	chr10.hg19:g.12856228G>A	ENSP00000368124:p.Asp226Asn		B0YIY0|Q9HD31	Missense_Mutation	SNP	ENST00000378847.3	hg19	CCDS7091.1	.	.	.	.	.	.	.	.	.	.	G	31	5.064215	0.93898	.	.	ENSG00000183049	ENST00000378847;ENST00000378845	T;T	0.65364	-0.15;-0.15	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	0.70011	0.3175	L	0.35723	1.085	0.80722	D	1	D;B	0.54047	0.964;0.267	D;B	0.63703	0.917;0.344	T	0.68907	-0.5285	10	0.42905	T	0.14	-37.1453	16.7965	0.85603	0.0:0.0:1.0:0.0	.	226;226	Q8IU85;Q5SQQ7	KCC1D_HUMAN;.	N	226	ENSP00000368124:D226N;ENSP00000368122:D226N	ENSP00000368122:D226N	D	+	1	0	CAMK1D	12896234	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.517000	0.98020	2.556000	0.86216	0.555000	0.69702	GAC		0.483	CAMK1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046820.1	NM_020397		A	12856228	G	A	12856228	3	1	774	1	0	0	0	0	1	0	0	0	2599	1290	45	2	702	2	CAMK1D	10	12856228	Missense_Mutation	SNP	G	TCGA-P4-A5EA-01A-11D-A28G-10		12856228	122678519	24	45699											
KCNQ1	3784	hgsc.bcm.edu	37	11	2466535	2466535	+	Silent	SNP	G	G	T	rs587781009		TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr11:2466535G>T	ENST00000155840.5	+	1	315	c.207G>T	c.(205-207)gcG>gcT	p.A69A		NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	69					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle contraction (GO:0060048)|cardiovascular system development (GO:0072358)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|gene silencing (GO:0016458)|male gonad development (GO:0008584)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of insulin secretion (GO:0046676)|positive regulation of gastric acid secretion (GO:0060454)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	basolateral plasma membrane (GO:0016323)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)|zymogen granule membrane (GO:0042589)	calmodulin binding (GO:0005516)|delayed rectifier potassium channel activity (GO:0005251)|ion channel binding (GO:0044325)|outward rectifier potassium channel activity (GO:0015271)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|protein phosphatase 1 binding (GO:0008157)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	ccccggccgcgcccgccgcgc	0.811																																																0													3	4	3					11																	2466535		1287	2827	4114	SO:0001819	synonymous_variant	3784			AF000571	CCDS7736.1	11p15.5	2014-09-17			ENSG00000053918	ENSG00000053918		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6294	protein-coding gene	gene with protein product	"Jervell and Lange-Nielsen syndrome 1"	607542		LQT, KCNA9		8528244, 16382104	Standard	NM_181798		Approved	Kv7.1, KCNA8, KVLQT1, JLNS1, LQT1	uc001lwn.3	P51787	OTTHUMG00000009900	ENST00000155840.5:c.207G>T	chr11.hg19:g.2466535G>T			O00347|O60607|O94787|Q14D14|Q7Z6G9|Q92960|Q9UMN8|Q9UMN9	Silent	SNP	ENST00000155840.5	hg19	CCDS7736.1																																																																																				0.811	KCNQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027382.2	NM_000218		T	2466535	G	T	2466535	2	4	774	1	0	0	0	0	0	0	0	1	8084	1074	38	4		4	KCNQ1	11	2466535	Silent	SNP	G	TCGA-P4-A5EA-01A-11D-A28G-10		2466535	132539981	25	45700											
TRIM68	55128	hgsc.bcm.edu	37	11	4621750	4621750	+	Missense_Mutation	SNP	C	C	T			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr11:4621750C>T	ENST00000300747.5	-	7	1503	c.1214G>A	c.(1213-1215)cGa>cAa	p.R405Q		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	405	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein autoubiquitination (GO:0051865)|regulation of androgen receptor signaling pathway (GO:0060765)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|histone acetyltransferase binding (GO:0035035)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		GGTGCCTGCTCGGTACTCATT	0.517																																																0													100	84	89					11																	4621750		2201	4298	6499	SO:0001583	missense	55128			AF360739	CCDS31356.1	11p15.4	2013-01-09	2011-01-25	2004-11-17		ENSG00000167333		"RING-type (C3HC4) zinc fingers", "Tripartite motif containing / Tripartite motif containing"	21161	protein-coding gene	gene with protein product		613184	"ring finger protein 137", "tripartite motif-containing 68"	RNF137		11597395	Standard	NM_018073		Approved	SS-56, FLJ10369	uc001lzf.2	Q6AZZ1		ENST00000300747.5:c.1214G>A	chr11.hg19:g.4621750C>T	ENSP00000300747:p.Arg405Gln		A6NI19|A8K551|B3KPM5|B4DVK4|Q8WZ70|Q96LE5|Q96PF7|Q9H9C2|Q9NW18	Missense_Mutation	SNP	ENST00000300747.5	hg19	CCDS31356.1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.473848	0.63737	.	.	ENSG00000167333	ENST00000300747;ENST00000544055	T	0.68181	-0.31	4.99	0.918	0.19386	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.160187	0.29932	N	0.010838	T	0.44582	0.1300	L	0.33753	1.03	0.28223	N	0.926426	P	0.34837	0.472	B	0.34824	0.19	T	0.23762	-1.0179	10	0.12766	T	0.61	.	3.2819	0.06918	0.1772:0.4704:0.0:0.3524	.	405	Q6AZZ1	TRI68_HUMAN	Q	405;126	ENSP00000300747:R405Q	ENSP00000300747:R405Q	R	-	2	0	TRIM68	4578326	0.000000	0.05858	0.996000	0.52242	0.995000	0.86356	-0.456000	0.06754	0.351000	0.24027	0.561000	0.74099	CGA		0.517	TRIM68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385948.1	NM_018073		T	4621750	C	T	4621750	3	4	774	1	0	0	0	0	1	0	0	0	16546	884	31	1	247	1	TRIM68	11	4621750	Missense_Mutation	SNP	C	TCGA-P4-A5EA-01A-11D-A28G-10	2155215	4621750	130384766	26	45701											
AHNAK	79026	hgsc.bcm.edu	37	11	62285795	62285796	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10	AG	AG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr11:62285795_62285796delAG	ENST00000378024.4	-	5	16367_16368	c.16093_16094delCT	c.(16093-16095)ctgfs	p.L5365fs	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000525875.1_5'Flank	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5365					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)				TGGTCCCCTCAGTGTCACATCT	0.545																																																0																																										SO:0001589	frameshift_variant	79026			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.16093_16094delCT	chr11.hg19:g.62285795_62285796delAG	ENSP00000367263:p.Leu5365fs		A1A586	Frame_Shift_Del	DEL	ENST00000378024.4	hg19	CCDS31584.1																																																																																				0.545	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		-	62285796	AG	-	62285795	7	5	774	1	0	1	0	1	0	0	0	0	414	188	7	0	1698	0	AHNAK	11	62285795	Frame_Shift_Del	DEL	AG	TCGA-P4-A5EA-01A-11D-A28G-10	57664045	62285795	72720721	27	45702											
MTA2	9219	hgsc.bcm.edu	37	11	62364175	62364176	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr11:62364175_62364176delCT	ENST00000278823.2	-	9	1204_1205	c.815_816delAG	c.(814-816)gagfs	p.E272fs	MTA2_ENST00000524902.1_Frame_Shift_Del_p.E99fs|MTA2_ENST00000527204.1_Frame_Shift_Del_p.E99fs	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	272	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				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						ATAGCATGGCCTCTGAGGCTGA	0.55																																																0																																										SO:0001589	frameshift_variant	9219			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.815_816delAG	chr11.hg19:g.62364177_62364178delCT	ENSP00000278823:p.Glu272fs		Q68DB1|Q9UQB5	Frame_Shift_Del	DEL	ENST00000278823.2	hg19	CCDS8022.1																																																																																				0.55	MTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395578.1	NM_004739		-	62364176	CT	-	62364175	7	5	774	1	0	1	0	1	0	0	0	0	9911	680	24	0	1230	0	MTA2	11	62364175	Frame_Shift_Del	DEL	CT	TCGA-P4-A5EA-01A-11D-A28G-10	78380	62364175	72642341	28	45703											
ZNHIT2	741	hgsc.bcm.edu	37	11	64884755	64884755	+	Missense_Mutation	SNP	G	G	A	rs200126440		TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr11:64884755G>A	ENST00000310597.4	-	1	415	c.371C>T	c.(370-372)cCt>cTt	p.P124L	AP003068.12_ENST00000527789.1_RNA	NM_014205.2	NP_055020.1	Q9UHR6	ZNHI2_HUMAN	zinc finger, HIT-type containing 2	124							metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						CCGCCATGGAGGCAGCAGCCG	0.731													G|||	1	0.000199681	0.0	0.0	5008	,	,		11861	0.0		0.001	False		,,,				2504	0.0															0								G	LEU/PRO	0,3516		0,0,1758	6	8	7		371	4.6	1	11		7	3,7301		0,3,3649	no	missense	ZNHIT2	NM_014205.2	98	0,3,5407	AA,AG,GG		0.0411,0.0,0.0277	probably-damaging	124/404	64884755	3,10817	1758	3652	5410	SO:0001583	missense	741				CCDS8094.1	11q13	2012-08-08	2010-09-15	2004-07-14	ENSG00000174276	ENSG00000174276		"Zinc fingers, HIT-type"	1177	protein-coding gene	gene with protein product		604575	"chromosome 11 open reading frame 5", "zinc finger, HIT domain containing 2"	C11orf5			Standard	NM_014205		Approved	FON	uc001ocw.3	Q9UHR6	OTTHUMG00000165604	ENST00000310597.4:c.371C>T	chr11.hg19:g.64884755G>A	ENSP00000308548:p.Pro124Leu		Q3SY14|Q8IUV0	Missense_Mutation	SNP	ENST00000310597.4	hg19	CCDS8094.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.129799	0.77549	0.0	4.11E-4	ENSG00000174276	ENST00000310597	T	0.34472	1.36	4.55	4.55	0.56014	.	0.142165	0.47455	U	0.000232	T	0.59959	0.2232	M	0.74881	2.28	0.53005	D	0.999966	D	0.89917	1.0	D	0.83275	0.996	T	0.64757	-0.6332	10	0.72032	D	0.01	-12.5655	14.8345	0.70172	0.0:0.0:1.0:0.0	.	124	Q9UHR6	ZNHI2_HUMAN	L	124	ENSP00000308548:P124L	ENSP00000308548:P124L	P	-	2	0	ZNHIT2	64641331	0.995000	0.38212	0.958000	0.39756	0.786000	0.44442	2.667000	0.46808	2.366000	0.80165	0.561000	0.74099	CCT		0.731	ZNHIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385260.1	NM_014205		A	64884755	G	A	64884755	3	1	774	1	0	0	0	0	1	0	0	0	18212	1000	35	2	844	2	ZNHIT2	11	64884755	Missense_Mutation	SNP	G	TCGA-P4-A5EA-01A-11D-A28G-10	2520580	64884755	70121761	29	45704											
DSCAML1	57453	hgsc.bcm.edu	37	11	117352683	117352683	+	Missense_Mutation	SNP	G	G	C			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr11:117352683G>C	ENST00000321322.6	-	12	2735	c.2734C>G	c.(2734-2736)Ctg>Gtg	p.L912V	DSCAML1_ENST00000527706.1_Missense_Mutation_p.L642V	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	852	Fibronectin type-III 1. {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)		CTCACCTTCAGTGTGGAGACG	0.622																																																0													104	73	84					11																	117352683		2201	4296	6497	SO:0001583	missense	57453				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.2734C>G	chr11.hg19:g.117352683G>C	ENSP00000315465:p.Leu912Val		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	hg19	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.397882	0.42512	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.73681	-0.77;-0.77	3.89	2.97	0.34412	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.85111	0.5622	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.85651	0.1282	9	0.62326	D	0.03	.	11.2591	0.49071	0.09:0.0:0.91:0.0	.	852	Q8TD84	DSCL1_HUMAN	V	642;912;619	ENSP00000434335:L642V;ENSP00000315465:L912V	ENSP00000315465:L912V	L	-	1	2	DSCAML1	116857893	1.000000	0.71417	0.934000	0.37439	0.083000	0.17756	4.754000	0.62191	0.844000	0.35094	0.485000	0.47835	CTG		0.622	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		C	117352683	G	C	117352683	3	2	774	1	0	0	0	0	1	0	0	0	4771	1020	36	4	3695	4	DSCAML1	11	117352683	Missense_Mutation	SNP	G	TCGA-P4-A5EA-01A-11D-A28G-10	52467928	117352683	17653833	30	45705											
IL10RA	3587	hgsc.bcm.edu	37	11	117869470	117869470	+	Missense_Mutation	SNP	G	G	T	rs576666901	byFrequency	TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr11:117869470G>T	ENST00000227752.3	+	7	971	c.851G>T	c.(850-852)cGt>cTt	p.R284L	IL10RA_ENST00000545409.1_Missense_Mutation_p.R135L|IL10RA_ENST00000541785.1_Missense_Mutation_p.R264L|IL10RA_ENST00000533700.1_3'UTR	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	284					cytokine-mediated signaling pathway (GO:0019221)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-10 receptor activity (GO:0004920)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		ATCAGCCAGCGTCCCTCCCCA	0.582																																																0													90	73	79					11																	117869470		2200	4296	6496	SO:0001583	missense	3587			U00672	CCDS8388.1	11q23	2014-09-17			ENSG00000110324	ENSG00000110324		"Interleukins and interleukin receptors", "CD molecules"	5964	protein-coding gene	gene with protein product		146933		IL10R		8120391	Standard	NR_026691		Approved	HIL-10R, CDW210A, CD210a, CD210	uc001prv.3	Q13651	OTTHUMG00000166523	ENST00000227752.3:c.851G>T	chr11.hg19:g.117869470G>T	ENSP00000227752:p.Arg284Leu		A8K6I0|B0YJ27	Missense_Mutation	SNP	ENST00000227752.3	hg19	CCDS8388.1	.	.	.	.	.	.	.	.	.	.	G	8.140	0.784909	0.16189	.	.	ENSG00000110324	ENST00000227752;ENST00000541785;ENST00000545409;ENST00000536858	T;T;T	0.23950	1.88;1.88;1.88	5.26	-3.16	0.05217	.	4.015810	0.00166	N	0.000015	T	0.07052	0.0179	N	0.01267	-0.92	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.20505	-1.0273	10	0.10377	T	0.69	-0.0195	1.5109	0.02496	0.1162:0.2378:0.2516:0.3945	.	264;284	F5GYV8;Q13651	.;I10R1_HUMAN	L	284;264;135;264	ENSP00000227752:R284L;ENSP00000441397:R264L;ENSP00000443019:R135L	ENSP00000227752:R284L	R	+	2	0	IL10RA	117374680	0.000000	0.05858	0.000000	0.03702	0.289000	0.27227	-1.174000	0.03105	-0.149000	0.11215	-0.457000	0.05445	CGT		0.582	IL10RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390167.1			T	117869470	G	T	117869470	3	4	774	1	0	0	0	0	1	0	0	0	7622	1145	40	4	877	4	IL10RA	11	117869470	Missense_Mutation	SNP	G	TCGA-P4-A5EA-01A-11D-A28G-10	516787	117869470	17137046	31	45706											
OR8D1	283159	hgsc.bcm.edu	37	11	124180084	124180085	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10	GT	GT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr11:124180084_124180085delGT	ENST00000357821.2	-	1	648_649	c.578_579delAC	c.(577-579)cacfs	p.H193fs		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, 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)	p.H193Q(1)		kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		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;0.0528)		GCTCATTGAGGTGTGTGTTGGA	0.46																																																1	Substitution - Missense(1)	ovary(1)																																								SO:0001589	frameshift_variant	283159			AF238489	CCDS31706.1	11q25	2012-08-09			ENSG00000196341	ENSG00000196341		"GPCR / Class A : Olfactory receptors"	8481	protein-coding gene	gene with protein product				OR8D3			Standard	NM_001002917		Approved	OST004	uc010sag.2	Q8WZ84	OTTHUMG00000165977	ENST00000357821.2:c.578_579delAC	chr11.hg19:g.124180090_124180091delGT	ENSP00000350474:p.His193fs		B2RNL4|Q6IEW1|Q8NGH0	Frame_Shift_Del	DEL	ENST00000357821.2	hg19	CCDS31706.1																																																																																				0.46	OR8D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387285.1	NM_001002917		-	124180085	GT	-	124180084	7	5	774	1	0	1	0	1	0	0	0	0	11233	1252	44	0	350	0	OR8D1	11	124180084	Frame_Shift_Del	DEL	GT	TCGA-P4-A5EA-01A-11D-A28G-10	6310614	124180084	10826432	32	45707											
LRRK2	120892	hgsc.bcm.edu	37	12	40742258	40742261	+	Frame_Shift_Del	DEL	TTAA	TTAA	-			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10	TTAA	TTAA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr12:40742258_40742261delTTAA	ENST00000298910.7	+	43	6386_6389	c.6328_6331delTTAA	c.(6328-6333)ttaattfs	p.LI2110fs		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2110	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)				GGTTGAGAAATTAATTAAACAGTG	0.314																																																0																																										SO:0001589	frameshift_variant	120892			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.6328_6331delTTAA	chr12.hg19:g.40742262_40742265delTTAA	ENSP00000298910:p.Leu2110fs		A6NJU2|Q6ZS50|Q8NCX9	Frame_Shift_Del	DEL	ENST00000298910.7	hg19	CCDS31774.1																																																																																				0.314	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		-	40742261	TTAA	-	40742258	7	5	774	1	0	1	0	1	0	0	0	0	9035	1490	52	0	6498	0	LRRK2	12	40742258	Frame_Shift_Del	DEL	TTAA	TCGA-P4-A5EA-01A-11D-A28G-10		40742258	93109637	33	45708											
UTP20	27340	hgsc.bcm.edu	37	12	101720912	101720912	+	Missense_Mutation	SNP	C	C	A			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr12:101720912C>A	ENST00000261637.4	+	26	3269	c.3095C>A	c.(3094-3096)tCt>tAt	p.S1032Y		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1032					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						CAGGGGAAATCTGCTTCAGGC	0.453																																																0													103	103	103					12																	101720912		2203	4300	6503	SO:0001583	missense	27340			AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"down regulated in metastasis"	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.3095C>A	chr12.hg19:g.101720912C>A	ENSP00000261637:p.Ser1032Tyr		Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	hg19	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.501228	0.85176	.	.	ENSG00000120800	ENST00000261637	T	0.20881	2.04	5.02	5.02	0.67125	Down-regulated-in-metastasis protein (1);Armadillo-type fold (1);	0.112147	0.64402	D	0.000007	T	0.45637	0.1352	M	0.63843	1.955	0.58432	D	0.999997	D	0.89917	1.0	D	0.77557	0.99	T	0.33624	-0.9861	10	0.49607	T	0.09	-16.674	18.7119	0.91661	0.0:1.0:0.0:0.0	.	1032	O75691	UTP20_HUMAN	Y	1032	ENSP00000261637:S1032Y	ENSP00000261637:S1032Y	S	+	2	0	UTP20	100245043	0.999000	0.42202	0.997000	0.53966	0.758000	0.43043	7.357000	0.79456	2.491000	0.84063	0.305000	0.20034	TCT		0.453	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		A	101720912	C	A	101720912	3	1	774	1	0	0	0	0	1	0	0	0	17104	913	32	4	3197	4	UTP20	12	101720912	Missense_Mutation	SNP	C	TCGA-P4-A5EA-01A-11D-A28G-10	60978654	101720912	32130983	34	45709											
C13orf18	80183	hgsc.bcm.edu	37	13	46946278	46946278	+	Silent	SNP	G	G	A			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr13:46946278G>A	ENST00000429979.1	-	3	937	c.333C>T	c.(331-333)tcC>tcT	p.S111S	KIAA0226L_ENST00000409879.2_Intron|KIAA0226L_ENST00000378781.3_Silent_p.S111S|KIAA0226L_ENST00000480935.1_5'UTR|KIAA0226L_ENST00000389908.3_Silent_p.S111S|KIAA0226L_ENST00000378797.2_Silent_p.S111S|KIAA0226L_ENST00000378787.3_Silent_p.S111S|KIAA0226L_ENST00000534925.1_5'UTR|RNU2-6P_ENST00000411404.1_RNA|KIAA0226L_ENST00000378784.4_Silent_p.S44S|KIAA0226L_ENST00000322896.6_Intron	NM_025113.2	NP_079389.2	Q9H714	K226L_HUMAN	KIAA0226-like	111	Ser-rich.									NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						CGCTGCCAACGGAGTCTGTGG	0.572																																																0													92	88	89					13																	46946278		2203	4300	6503	SO:0001819	synonymous_variant	80183			AK025215	CCDS31970.2, CCDS66543.1, CCDS66544.1, CCDS66545.1, CCDS73569.1	13q14.11	2011-08-09	2011-08-09	2011-08-09	ENSG00000102445	ENSG00000102445			20420	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 18"	C13orf18			Standard	NM_001286766		Approved	FLJ21562	uc010acl.3	Q9H714	OTTHUMG00000016868	ENST00000429979.1:c.333C>T	chr13.hg19:g.46946278G>A			A8KAG9|A8XR19|B3KS87|Q5W051|Q5W053|Q6PJ74|Q6PK94|Q86XH7|Q8N5J6	Silent	SNP	ENST00000429979.1	hg19	CCDS31970.2																																																																																				0.572	KIAA0226L-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044809.2	NM_025113		A	46946278	G	A	46946278	2	1	774	1	0	0	0	0	0	0	0	1	1722	1103	39	1		1	C13orf18	13	46946278	Silent	SNP	G	TCGA-P4-A5EA-01A-11D-A28G-10		46946278	68223600	35	45710											
TPP2	7174	hgsc.bcm.edu	37	13	103328750	103328750	+	Missense_Mutation	SNP	G	G	T			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr13:103328750G>T	ENST00000376065.4	+	28	3681	c.3645G>T	c.(3643-3645)tgG>tgT	p.W1215C	TPP2_ENST00000466153.1_3'UTR|TPP2_ENST00000376052.3_Missense_Mutation_p.W1228C	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	1215					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)					AAGAAAACTGGAAAAATTGTA	0.303																																																0													56	60	58					13																	103328750		2201	4290	6491	SO:0001583	missense	7174			M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	3.4.14.10		12016	protein-coding gene	gene with protein product		190470				1670990	Standard	NM_003291		Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376065.4:c.3645G>T	chr13.hg19:g.103328750G>T	ENSP00000365233:p.Trp1215Cys		Q5VZU8	Missense_Mutation	SNP	ENST00000376065.4	hg19	CCDS9502.1	.	.	.	.	.	.	.	.	.	.	G	12.28	1.891078	0.33348	.	.	ENSG00000134900	ENST00000376065;ENST00000376052	.	.	.	5.8	5.8	0.92144	.	0.162876	0.56097	D	0.000022	T	0.39733	0.1089	N	0.22421	0.69	0.80722	D	1	P	0.41748	0.761	B	0.37780	0.258	T	0.28073	-1.0055	9	0.38643	T	0.18	.	15.1747	0.72901	0.0692:0.0:0.9308:0.0	.	1215	P29144	TPP2_HUMAN	C	1215;1228	.	ENSP00000365220:W1228C	W	+	3	0	TPP2	102126751	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.923000	0.70045	2.746000	0.94184	0.563000	0.77884	TGG		0.303	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045683.2			T	103328750	G	T	103328750	3	4	774	1	0	0	0	0	1	0	0	0	16417	1183	41	4	3755	4	TPP2	13	103328750	Missense_Mutation	SNP	G	TCGA-P4-A5EA-01A-11D-A28G-10	56382472	103328750	11841128	36	45711											
IRS2	8660	hgsc.bcm.edu	37	13	110435073	110435073	+	Missense_Mutation	SNP	G	G	A			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr13:110435073G>A	ENST00000375856.3	-	1	3842	c.3328C>T	c.(3328-3330)Ctc>Ttc	p.L1110F		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	1110					brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to glucose stimulus (GO:0071333)|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 metabolic process (GO:0006006)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid homeostasis (GO:0055088)|mammary gland development (GO:0030879)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of kinase activity (GO:0033673)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|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 metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mesenchymal cell proliferation (GO:0002053)|regulation of lipid metabolic process (GO:0019216)|response to glucose (GO:0009749)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			TGCTCCATGAGGCTCAGCCTC	0.731																																					Melanoma(100;613 2409 40847)											0													5	6	6					13																	110435073		2027	4070	6097	SO:0001583	missense	8660			AB000732	CCDS9510.1	13q34	2013-01-10			ENSG00000185950	ENSG00000185950		"Pleckstrin homology (PH) domain containing"	6126	protein-coding gene	gene with protein product		600797				9312143	Standard	NM_003749		Approved		uc001vqv.3	Q9Y4H2	OTTHUMG00000017338	ENST00000375856.3:c.3328C>T	chr13.hg19:g.110435073G>A	ENSP00000365016:p.Leu1110Phe		Q96RR2|Q9BZG0|Q9Y6I5	Missense_Mutation	SNP	ENST00000375856.3	hg19	CCDS9510.1	.	.	.	.	.	.	.	.	.	.	G	11.01	1.514438	0.27123	.	.	ENSG00000185950	ENST00000375856	T	0.46063	0.88	3.92	2.96	0.34315	.	0.608901	0.14485	U	0.316713	T	0.58323	0.2114	M	0.64404	1.975	0.36281	D	0.855788	D	0.76494	0.999	D	0.75484	0.986	T	0.62324	-0.6878	10	0.35671	T	0.21	-24.5425	12.0667	0.53592	0.1011:0.0:0.8989:0.0	.	1110	Q9Y4H2	IRS2_HUMAN	F	1110	ENSP00000365016:L1110F	ENSP00000365016:L1110F	L	-	1	0	IRS2	109233074	1.000000	0.71417	0.997000	0.53966	0.010000	0.07245	3.062000	0.49971	2.039000	0.60335	0.644000	0.83932	CTC		0.731	IRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045755.1	NM_003749		A	110435073	G	A	110435073	3	1	774	1	0	0	0	0	1	0	0	0	7843	1000	35	2	696	2	IRS2	13	110435073	Missense_Mutation	SNP	G	TCGA-P4-A5EA-01A-11D-A28G-10	7106323	110435073	4734805	37	45712											
C14orf145	145508	hgsc.bcm.edu	37	14	81251281	81251284	+	Frame_Shift_Del	DEL	CTTA	CTTA	-			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10	CTTA	CTTA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr14:81251281_81251284delCTTA	ENST00000555265.1	-	15	2541_2544	c.2166_2169delTAAG	c.(2164-2169)tttaagfs	p.FK722fs	CEP128_ENST00000281129.3_Frame_Shift_Del_p.FK722fs			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	722						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						TCTTTTCTTTCTTAAAGTGCTTCA	0.412																																																0																																										SO:0001589	frameshift_variant	145508			AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 61", "chromosome 14 open reading frame 145"	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.2166_2169delTAAG	chr14.hg19:g.81251281_81251284delCTTA	ENSP00000451162:p.Phe722fs		B9EK52|Q86X97|Q96ML4	Frame_Shift_Del	DEL	ENST00000555265.1	hg19	CCDS32130.1																																																																																				0.412	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413415.1	NM_152446		-	81251284	CTTA	-	81251281	7	5	774	1	0	1	0	1	0	0	0	0	1751	912	32	0	1159	0	C14orf145	14	81251281	Frame_Shift_Del	DEL	CTTA	TCGA-P4-A5EA-01A-11D-A28G-10		81251281	26098259	38	45713											
KIAA1409	57578	hgsc.bcm.edu	37	14	94052953	94052953	+	Missense_Mutation	SNP	G	G	C			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr14:94052953G>C	ENST00000393151.2	+	21	2815	c.2815G>C	c.(2815-2817)Gat>Cat	p.D939H	UNC79_ENST00000553484.1_Missense_Mutation_p.D939H|UNC79_ENST00000256339.4_Missense_Mutation_p.D762H|UNC79_ENST00000555664.1_Missense_Mutation_p.D939H			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	939					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						AGTAAAGAATGATACCGAAAG	0.333																																																0													51	51	51					14																	94052953		2202	4299	6501	SO:0001583	missense	57578			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"KIAA1409"	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.2815G>C	chr14.hg19:g.94052953G>C	ENSP00000376858:p.Asp939His		B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	hg19		.	.	.	.	.	.	.	.	.	.	G	19.14	3.769262	0.69992	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.18810	2.2;2.2;2.19;2.2	5.94	5.94	0.96194	.	0.110277	0.64402	D	0.000009	T	0.33235	0.0856	L	0.34521	1.04	0.42647	D	0.99343	D	0.57571	0.98	P	0.55965	0.788	T	0.00860	-1.1537	10	0.51188	T	0.08	-21.7402	20.3736	0.98901	0.0:0.0:1.0:0.0	.	939	C9JQL1	.	H	762;939;939;939;939	ENSP00000256339:D762H;ENSP00000450868:D939H;ENSP00000451360:D939H;ENSP00000376858:D939H	ENSP00000256339:D762H	D	+	1	0	KIAA1409	93122706	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.130000	0.77235	2.820000	0.97059	0.650000	0.86243	GAT		0.333	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		C	94052953	G	C	94052953	3	2	774	1	0	0	0	0	1	0	0	0	8232	1290	45	4	2354	4	KIAA1409	14	94052953	Missense_Mutation	SNP	G	TCGA-P4-A5EA-01A-11D-A28G-10	12801672	94052953	13296587	39	45714											
GLCE	26035	hgsc.bcm.edu	37	15	69553563	69553564	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10	AG	AG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr15:69553563_69553564delAG	ENST00000261858.2	+	4	952_953	c.724_725delAG	c.(724-726)agafs	p.R242fs	GLCE_ENST00000559500.1_3'UTR|GLCE_ENST00000559420.2_Frame_Shift_Del_p.R178fs	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN	glucuronic acid epimerase	242					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	heparosan-N-sulfate-glucuronate 5-epimerase activity (GO:0047464)|racemase and epimerase activity, acting on carbohydrates and derivatives (GO:0016857)|UDP-glucuronate 5'-epimerase activity (GO:0050379)	p.R242K(1)		NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						AGCAGAAGACAGAGACAAAAAC	0.401																																																1	Substitution - Missense(1)	upper_aerodigestive_tract(1)																																								SO:0001589	frameshift_variant	26035			AB020643	CCDS32277.1	15q23	2007-01-30	2007-01-30			ENSG00000138604	5.1.3.12		17855	protein-coding gene	gene with protein product	"heparan sulfate epimerase"	612134	"D-glucuronyl C5-epimerase", "UDP-glucuronic acid epimerase"			15853773	Standard	NM_015554		Approved	KIAA0836, HSEPI	uc002ary.1	O94923		ENST00000261858.2:c.724_725delAG	chr15.hg19:g.69553565_69553566delAG	ENSP00000261858:p.Arg242fs		Q6GUQ2	Frame_Shift_Del	DEL	ENST00000261858.2	hg19	CCDS32277.1																																																																																				0.401	GLCE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015554		-	69553564	AG	-	69553563	7	5	774	1	0	1	0	1	0	0	0	0	6434	180	7	0	730	0	GLCE	15	69553563	Frame_Shift_Del	DEL	AG	TCGA-P4-A5EA-01A-11D-A28G-10		69553563	32977829	40	45715											
C15orf39	56905	hgsc.bcm.edu	37	15	75500838	75500838	+	Missense_Mutation	SNP	A	A	G			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr15:75500838A>G	ENST00000360639.2	+	2	2769	c.2449A>G	c.(2449-2451)Aag>Gag	p.K817E	C15orf39_ENST00000394987.4_Missense_Mutation_p.K817E|RP11-69H7.3_ENST00000563568.1_RNA|C15orf39_ENST00000567617.1_Missense_Mutation_p.K817E			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	817						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						GCTGCTGGCCAAGCTGCTGTC	0.667																																																0													22	18	19					15																	75500838		2188	4288	6476	SO:0001583	missense	56905			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.2449A>G	chr15.hg19:g.75500838A>G	ENSP00000353854:p.Lys817Glu		B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	Missense_Mutation	SNP	ENST00000360639.2	hg19	CCDS10276.1	.	.	.	.	.	.	.	.	.	.	A	7.085	0.571051	0.13623	.	.	ENSG00000167173	ENST00000360639;ENST00000394987;ENST00000446981	T;T	0.16324	2.35;2.35	5.07	1.05	0.20165	.	0.591269	0.18433	N	0.141368	T	0.12178	0.0296	L	0.45581	1.43	0.09310	N	0.999999	B;P	0.37370	0.234;0.592	B;B	0.34652	0.14;0.187	T	0.14062	-1.0486	10	0.46703	T	0.11	-8.4875	4.778	0.13189	0.5116:0.3589:0.1295:0.0	.	379;817	Q2VPA3;Q6ZRI6	.;CO039_HUMAN	E	817;817;215	ENSP00000353854:K817E;ENSP00000378438:K817E	ENSP00000353854:K817E	K	+	1	0	C15orf39	73287891	0.993000	0.37304	0.863000	0.33907	0.025000	0.11179	2.862000	0.48388	0.735000	0.32537	0.459000	0.35465	AAG		0.667	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286410.1	NM_015492		G	75500838	A	G	75500838	3	3	774	1	0	0	0	0	1	0	0	0	1795	131	5	3	2451	3	C15orf39	15	75500838	Missense_Mutation	SNP	A	TCGA-P4-A5EA-01A-11D-A28G-10	5947275	75500838	27030554	41	45716											
UBE2I	7329	hgsc.bcm.edu	37	16	1370453	1370453	+	Missense_Mutation	SNP	A	A	G			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr16:1370453A>G	ENST00000355803.4	+	6	899	c.348A>G	c.(346-348)atA>atG	p.I116M	UBE2I_ENST00000325437.5_Missense_Mutation_p.I116M|UBE2I_ENST00000402301.1_Missense_Mutation_p.I116M|UBE2I_ENST00000406620.1_Missense_Mutation_p.I116M|UBE2I_ENST00000397515.2_Missense_Mutation_p.I116M|LA16c-358B7.3_ENST00000567829.1_RNA|UBE2I_ENST00000397514.3_Missense_Mutation_p.I116M|UBE2I_ENST00000403747.2_Missense_Mutation_p.I116M|LA16c-358B7.3_ENST00000568106.1_RNA|UBE2I_ENST00000566587.1_Missense_Mutation_p.I116M	NM_194260.2	NP_919236.1	P63279	UBC9_HUMAN	ubiquitin-conjugating enzyme E2I	116					cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of intracellular steroid hormone receptor signaling pathway (GO:0033145)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein sumoylation (GO:0016925)|regulation of receptor activity (GO:0010469)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|fibrillar center (GO:0001650)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|synapse (GO:0045202)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RING-like zinc finger domain binding (GO:0071535)|SUMO ligase activity (GO:0019789)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	5		Hepatocellular(780;0.00369)				TATTAGGAATACAGGAACTTC	0.512																																																0													96	95	95					16																	1370453		2199	4300	6499	SO:0001583	missense	7329			D45050	CCDS10433.1	16p13.3	2011-05-19	2011-05-19		ENSG00000103275	ENSG00000103275	6.3.2.19	"Ubiquitin-conjugating enzymes E2"	12485	protein-coding gene	gene with protein product		601661	"ubiquitin-conjugating enzyme E2I (homologous to yeast UBC9)", "ubiquitin-conjugating enzyme E2I (UBC9 homolog, yeast)"			8565643	Standard	NM_003345		Approved	UBC9	uc002cld.2	P63279	OTTHUMG00000047845	ENST00000355803.4:c.348A>G	chr16.hg19:g.1370453A>G	ENSP00000348056:p.Ile116Met		D3DU69|P50550|Q15698|Q59GX1|Q86VB3	Missense_Mutation	SNP	ENST00000355803.4	hg19	CCDS10433.1	.	.	.	.	.	.	.	.	.	.	A	16.92	3.254235	0.59212	.	.	ENSG00000103275	ENST00000325437;ENST00000355803;ENST00000397514;ENST00000397515;ENST00000406620;ENST00000403747;ENST00000402301	T;T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79;0.79	5.13	2.85	0.33270	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	T	0.64427	0.2597	H	0.96805	3.885	0.80722	D	1	P;B	0.49961	0.93;0.326	P;B	0.47827	0.558;0.342	T	0.67856	-0.5562	10	0.87932	D	0	.	6.5449	0.22400	0.686:0.1604:0.0:0.1536	.	116;116	B0QYN7;P63279	.;UBC9_HUMAN	M	116	ENSP00000324897:I116M;ENSP00000348056:I116M;ENSP00000380649:I116M;ENSP00000380650:I116M;ENSP00000384568:I116M;ENSP00000385009:I116M;ENSP00000384361:I116M	ENSP00000324897:I116M	I	+	3	3	UBE2I	1310454	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.052000	0.30429	0.406000	0.25560	0.459000	0.35465	ATA		0.512	UBE2I-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250317.2	NM_003345		G	1370453	A	G	1370453	3	3	774	1	0	0	0	0	1	0	0	0	16864	381	14	3	366	3	UBE2I	16	1370453	Missense_Mutation	SNP	A	TCGA-P4-A5EA-01A-11D-A28G-10		1370453	88984300	42	45717											
CREBBP	1387	hgsc.bcm.edu	37	16	3817823	3817823	+	Nonsense_Mutation	SNP	C	C	A			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr16:3817823C>A	ENST00000262367.5	-	16	3957	c.3148G>T	c.(3148-3150)Gaa>Taa	p.E1050*	CREBBP_ENST00000382070.3_Nonsense_Mutation_p.E1012*	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1050					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GGTTTCTTTTCATCCACTTCC	0.433			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																																Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	0													250	223	232					16																	3817823		2197	4300	6497	SO:0001587	stop_gained	1387			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.3148G>T	chr16.hg19:g.3817823C>A	ENSP00000262367:p.Glu1050*		D3DUC9|O00147|Q16376|Q4LE28	Nonsense_Mutation	SNP	ENST00000262367.5	hg19	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	C	49	15.549454	0.99837	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	.	.	.	5.61	5.61	0.85477	.	0.069937	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-12.7639	20.0086	0.97443	0.0:1.0:0.0:0.0	.	.	.	.	X	1050;1080;1012	.	ENSP00000262367:E1050X	E	-	1	0	CREBBP	3757824	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.451000	0.66632	2.808000	0.96608	0.655000	0.94253	GAA		0.433	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		A	3817823	C	A	3817823	4	1	774	1	0	0	0	0	0	1	0	0	3863	835	29	4	4244	4	CREBBP	16	3817823	Nonsense_Mutation	SNP	C	TCGA-P4-A5EA-01A-11D-A28G-10	2447370	3817823	86536930	43	45718											
SRCAP	10847	hgsc.bcm.edu	37	16	30744761	30744761	+	Silent	SNP	A	A	G			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr16:30744761A>G	ENST00000262518.4	+	28	6673	c.6288A>G	c.(6286-6288)gaA>gaG	p.E2096E	SRCAP_ENST00000395059.2_Silent_p.E2034E|SRCAP_ENST00000344771.4_Silent_p.E1938E	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2096	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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)			CTAGAGTTGAACAGAGACAGG	0.527																																																0													82	72	75					16																	30744761		2197	4300	6497	SO:0001819	synonymous_variant	10847			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.6288A>G	chr16.hg19:g.30744761A>G			B0JZA6|O15026|Q7Z744|Q9Y5L9	Silent	SNP	ENST00000262518.4	hg19	CCDS10689.2																																																																																				0.527	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		G	30744761	A	G	30744761	2	3	774	1	0	0	0	0	0	0	0	1	15140	40	2	3		3	SRCAP	16	30744761	Silent	SNP	A	TCGA-P4-A5EA-01A-11D-A28G-10	26926938	30744761	59609992	44	45719											
CDH8	1006	hgsc.bcm.edu	37	16	61823266	61823266	+	Missense_Mutation	SNP	G	G	C			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr16:61823266G>C	ENST00000577390.1	-	8	2352	c.1398C>G	c.(1396-1398)atC>atG	p.I466M	CDH8_ENST00000577730.1_Missense_Mutation_p.I466M|CDH8_ENST00000299345.6_Missense_Mutation_p.I466M|CDH8_ENST00000584337.1_Missense_Mutation_p.I466M	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	466	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)|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)		CAGTAGCAATGATTGTTATGT	0.403																																																0													234	196	209					16																	61823266		2203	4300	6503	SO:0001583	missense	1006			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.1398C>G	chr16.hg19:g.61823266G>C	ENSP00000462701:p.Ile466Met		B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	hg19	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.012887	0.35511	.	.	ENSG00000150394	ENST00000299345	T	0.68025	-0.3	5.44	5.44	0.79542	Cadherin (4);Cadherin-like (1);	0.056358	0.64402	D	0.000001	T	0.70404	0.3220	M	0.77486	2.375	0.36180	D	0.849374	B;B	0.26845	0.001;0.161	B;B	0.39152	0.01;0.292	T	0.76454	-0.2953	10	0.87932	D	0	.	7.413	0.27027	0.2018:0.0:0.7982:0.0	.	282;466	Q3LID3;P55286	.;CADH8_HUMAN	M	466	ENSP00000299345:I466M	ENSP00000299345:I466M	I	-	3	3	CDH8	60380767	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.084000	0.41625	2.716000	0.92895	0.491000	0.48974	ATC		0.403	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		C	61823266	G	C	61823266	3	2	774	1	0	0	0	0	1	0	0	0	3118	1280	45	4	1021	4	CDH8	16	61823266	Missense_Mutation	SNP	G	TCGA-P4-A5EA-01A-11D-A28G-10	31078505	61823266	28531487	45	45720											
LCAT	3931	hgsc.bcm.edu	37	16	67974090	67974091	+	Frame_Shift_Ins	INS	-	-	GGGGG	rs202017590|rs368229427		TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr16:67974090_67974091insGGGGG	ENST00000264005.5	-	6	1068_1069	c.1039_1040insCCCCC	c.(1039-1041)cgcfs	p.R347fs		NM_000229.1	NP_000220.1	P04180	LCAT_HUMAN	lecithin-cholesterol acyltransferase	347			R -> C (in FED; results in reduced activity). {ECO:0000269|PubMed:21901787}.		cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|high-density lipoprotein particle remodeling (GO:0034375)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein metabolic process (GO:0042157)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|regulation of high-density lipoprotein particle assembly (GO:0090107)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)	apolipoprotein A-I binding (GO:0034186)|phosphatidylcholine-sterol O-acyltransferase activity (GO:0004607)			cervix(4)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)		GATGTAGGTGCGGGGCGTGGGC	0.619																																																0																																										SO:0001589	frameshift_variant	3931				CCDS10854.1	16q22.1	2012-10-02			ENSG00000213398	ENSG00000213398	2.3.1.43		6522	protein-coding gene	gene with protein product		606967					Standard	NM_000229		Approved		uc002euy.1	P04180	OTTHUMG00000137551	ENST00000264005.5:c.1039_1040insCCCCC	chr16.hg19:g.67974090_67974091insGGGGG	ENSP00000264005:p.Arg347fs		Q53XQ3	Frame_Shift_Ins	INS	ENST00000264005.5	hg19	CCDS10854.1																																																																																				0.619	LCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268885.3			GGGGG	67974091	-	GGGGG	67974090	7	5	774	1	0	1	1	0	0	0	0	0	8660	768	27	0	286	0	LCAT	16	67974090	Frame_Shift_Ins	INS	-	TCGA-P4-A5EA-01A-11D-A28G-10	6150824	67974090	22380663	46	45721											
SPIRE2	84501	hgsc.bcm.edu	37	16	89924825	89924826	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10	AG	AG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr16:89924825_89924826delAG	ENST00000378247.3	+	8	1225_1226	c.1182_1183delAG	c.(1180-1185)acagatfs	p.D395fs	SPIRE2_ENST00000393062.2_Frame_Shift_Del_p.D395fs	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	395					actin cytoskeleton organization (GO:0030036)|cleavage furrow formation (GO:0036089)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|intracellular transport (GO:0046907)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		TGTCAGTCACAGATGCTGGGGG	0.629																																																0																																										SO:0001589	frameshift_variant	84501			AL834408	CCDS32516.1	16q24	2013-08-27	2013-08-27			ENSG00000204991			30623	protein-coding gene	gene with protein product		609217	"spire homolog 2 (Drosophila)", "spire family actin nucleation factor 2"			11347906	Standard	NM_032451		Approved	spir-2, KIAA1832	uc002foz.1	Q8WWL2		ENST00000378247.3:c.1182_1183delAG	chr16.hg19:g.89924825_89924826delAG	ENSP00000367494:p.Asp395fs		A4QPB1|Q2TA98|Q6P433|Q8ND47|Q96JJ5	Frame_Shift_Del	DEL	ENST00000378247.3	hg19	CCDS32516.1																																																																																				0.629	SPIRE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421843.1	XM_047462		-	89924826	AG	-	89924825	7	5	774	1	0	1	0	1	0	0	0	0	15077	175	7	0	1212	0	SPIRE2	16	89924825	Frame_Shift_Del	DEL	AG	TCGA-P4-A5EA-01A-11D-A28G-10	21950735	89924825	429928	47	45722											
RPH3AL	9501	hgsc.bcm.edu	37	17	131631	131631	+	Missense_Mutation	SNP	T	T	A			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr17:131631T>A	ENST00000331302.7	-	6	673	c.366A>T	c.(364-366)aaA>aaT	p.K122N	RPH3AL_ENST00000323434.8_Intron|RPH3AL_ENST00000576001.1_5'UTR|RPH3AL_ENST00000536489.2_Intron	NM_001190411.1|NM_006987.3	NP_001177340.1|NP_008918.1	Q9UNE2	RPH3L_HUMAN	rabphilin 3A-like (without C2 domains)	122	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|positive regulation of protein secretion (GO:0050714)|regulation of calcium ion-dependent exocytosis (GO:0017158)|response to drug (GO:0042493)	cytoplasm (GO:0005737)|secretory granule membrane (GO:0030667)	cytoskeletal protein binding (GO:0008092)|metal ion binding (GO:0046872)			NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)		CGATCCCACATTTGGTGCAGA	0.587																																																0													81	81	81					17																	131631		2203	4300	6503	SO:0001583	missense	9501				CCDS10994.1, CCDS54059.1	17p13.3	2014-07-02			ENSG00000181031	ENSG00000181031		"Synaptotagmins"	10296	protein-coding gene	gene with protein product		604881				10395805	Standard	NM_006987		Approved	Noc2	uc021tmx.1	Q9UNE2	OTTHUMG00000090273	ENST00000331302.7:c.366A>T	chr17.hg19:g.131631T>A	ENSP00000328977:p.Lys122Asn		D3DTG7|Q9BSB3	Missense_Mutation	SNP	ENST00000331302.7	hg19	CCDS10994.1	.	.	.	.	.	.	.	.	.	.	T	15.21	2.767130	0.49574	.	.	ENSG00000181031	ENST00000323434	.	.	.	5.02	-8.63	0.00878	Zinc finger, RING/FYVE/PHD-type (1);Rab-binding domain (1);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.64402	D	0.000008	T	0.71426	0.3338	M	0.70903	2.155	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	T	0.82818	-0.0269	9	0.87932	D	0	-14.7906	16.2241	0.82283	0.0:0.5791:0.0:0.4208	.	122	Q9UNE2	RPH3L_HUMAN	N	122	.	ENSP00000319210:K122N	K	-	3	2	RPH3AL	131631	0.328000	0.24687	0.618000	0.29105	0.943000	0.58893	-0.811000	0.04500	-2.189000	0.00758	-1.660000	0.00751	AAA		0.587	RPH3AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206597.2	NM_006987		A	131631	T	A	131631	3	1	774	1	0	0	0	0	1	0	0	0	13558	1490	52	5	601	5	RPH3AL	17	131631	Missense_Mutation	SNP	T	TCGA-P4-A5EA-01A-11D-A28G-10		131631	81063579	48	45723											
RPL26	6154	hgsc.bcm.edu	37	17	8283223	8283223	+	Missense_Mutation	SNP	A	A	C			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr17:8283223A>C	ENST00000584164.1	-	3	591	c.200T>G	c.(199-201)aTt>aGt	p.I67S	RPL26_ENST00000583011.1_Missense_Mutation_p.I67S|RPL26_ENST00000578812.1_Missense_Mutation_p.I67S|RPL26_ENST00000585176.1_5'UTR|RPL26_ENST00000293842.5_Missense_Mutation_p.I67S|RP11-849F2.5_ENST00000585181.1_RNA|RPL26_ENST00000582556.1_Missense_Mutation_p.I67S|RP11-849F2.7_ENST00000582471.1_Missense_Mutation_p.I67S|RP11-849F2.5_ENST00000579904.1_RNA			P61254	RL26_HUMAN	ribosomal protein L26	67					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)	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)			skin(1)|urinary_tract(1)	2						TACTTTGCCAATTTGCTGACC	0.373																																																0													51	51	51					17																	8283223		2203	4300	6503	SO:0001583	missense	6154				CCDS11142.1	17p13	2011-04-06			ENSG00000161970	ENSG00000161970		"L ribosomal proteins"	10327	protein-coding gene	gene with protein product		603704				8479925	Standard	XM_005256749		Approved	L26	uc002glh.1	P61254	OTTHUMG00000108191	ENST00000584164.1:c.200T>G	chr17.hg19:g.8283223A>C	ENSP00000463784:p.Ile67Ser		B2R4F0|D3DTR8|Q02877|Q6IPY2	Missense_Mutation	SNP	ENST00000584164.1	hg19	CCDS11142.1	.	.	.	.	.	.	.	.	.	.	A	13.87	2.367500	0.42003	.	.	ENSG00000161970	ENST00000293842	.	.	.	4.7	4.7	0.59300	KOW (2);Translation protein SH3-like (1);Ribosomal protein L24/L26, conserved site (1);Ribosomal protein L24, SH3-like (1);	0.000000	0.85682	D	0.000000	T	0.44582	0.1300	N	0.22421	0.69	0.58432	D	0.999995	B	0.13145	0.007	B	0.25506	0.061	T	0.36016	-0.9765	9	0.37606	T	0.19	-1.2756	12.4268	0.55551	1.0:0.0:0.0:0.0	.	67	P61254	RL26_HUMAN	S	67	.	ENSP00000293842:I67S	I	-	2	0	RPL26	8223948	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.239000	0.95389	1.871000	0.54225	0.523000	0.50628	ATT		0.373	RPL26-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442322.1	NM_000987		C	8283223	A	C	8283223	3	2	774	1	0	0	0	0	1	0	0	0	13579	101	4	5	245	5	RPL26	17	8283223	Missense_Mutation	SNP	A	TCGA-P4-A5EA-01A-11D-A28G-10	8151592	8283223	72911987	49	45724											
C17orf80	55028	hgsc.bcm.edu	37	17	71232036	71232037	+	Frame_Shift_Del	DEL	CA	CA	-	rs373362252|rs555089459		TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10	CA	CA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr17:71232036_71232037delCA	ENST00000535032.2	+	2	528_529	c.415_416delCA	c.(415-417)cagfs	p.Q139fs	FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000359042.2_Frame_Shift_Del_p.Q139fs|C17orf80_ENST00000582793.1_Intron|C17orf80_ENST00000426147.2_Frame_Shift_Del_p.Q139fs|C17orf80_ENST00000577615.1_Frame_Shift_Del_p.Q139fs|C17orf80_ENST00000268942.8_Frame_Shift_Del_p.Q139fs|C17orf80_ENST00000255557.4_Frame_Shift_Del_p.Q139fs			Q9BSJ5	CQ080_HUMAN	chromosome 17 open reading frame 80	139						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)			AACCAAGGCTCAGTTTTACGCA	0.381																																																0																																										SO:0001589	frameshift_variant	55028			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.415_416delCA	chr17.hg19:g.71232036_71232037delCA	ENSP00000440551:p.Gln139fs		A8K9X3|Q5JB45|Q6YAU3|Q9H0L9|Q9H5E6|Q9NWN5	Frame_Shift_Del	DEL	ENST00000535032.2	hg19	CCDS11694.1																																																																																				0.381	C17orf80-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441893.1	NM_017941		-	71232037	CA	-	71232036	7	5	774	1	0	1	0	1	0	0	0	0	1887	827	29	0	417	0	C17orf80	17	71232036	Frame_Shift_Del	DEL	CA	TCGA-P4-A5EA-01A-11D-A28G-10	62948813	71232036	9963174	50	45725											
GGA3	23163	hgsc.bcm.edu	37	17	73239164	73239164	+	Missense_Mutation	SNP	C	C	G	rs35542883		TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr17:73239164C>G	ENST00000245541.6	-	6	724	c.508G>C	c.(508-510)Gat>Cat	p.D170H	GGA3_ENST00000582717.1_Missense_Mutation_p.D98H|GGA3_ENST00000537686.1_Intron|GGA3_ENST00000538886.1_Missense_Mutation_p.D48H|GGA3_ENST00000578348.1_Missense_Mutation_p.D48H|GGA3_ENST00000351904.7_Missense_Mutation_p.D137H|GGA3_ENST00000579743.1_5'Flank|GGA3_ENST00000582486.1_Missense_Mutation_p.D98H	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3	170	Binds to ARF1 (in long isoform).				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)			breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			TCCTCATCATCAAAAACAGGG	0.547																																																0													161	149	153					17																	73239164		2203	4300	6503	SO:0001583	missense	23163			AF190864	CCDS11716.1, CCDS11717.1, CCDS54164.1, CCDS58597.1	17q25	2010-02-12	2010-02-12			ENSG00000125447			17079	protein-coding gene	gene with protein product		606006				10747089, 10749927	Standard	NR_033345		Approved	KIAA0154	uc002jni.2	Q9NZ52		ENST00000245541.6:c.508G>C	chr17.hg19:g.73239164C>G	ENSP00000245541:p.Asp170His		B7Z7E2|B7Z7M9|J3KRN0|Q15017|Q6IS16|Q9UJY3	Missense_Mutation	SNP	ENST00000245541.6	hg19	CCDS11717.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.879725	0.51801	.	.	ENSG00000125447	ENST00000245541;ENST00000351904;ENST00000537584;ENST00000538886	T;T	0.52983	2.01;0.64	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.67449	0.2894	M	0.67397	2.05	0.80722	D	1	D;P;D	0.89917	1.0;0.522;1.0	D;P;D	0.72982	0.972;0.729;0.979	T	0.69465	-0.5138	10	0.54805	T	0.06	-21.0362	18.153	0.89682	0.0:1.0:0.0:0.0	.	48;137;170	B7Z7E2;Q9NZ52-2;Q9NZ52	.;.;GGA3_HUMAN	H	170;137;98;48	ENSP00000245541:D170H;ENSP00000326575:D137H	ENSP00000245541:D170H	D	-	1	0	GGA3	70750759	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.646000	0.83445	2.505000	0.84491	0.563000	0.77884	GAT		0.547	GGA3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446645.1	NM_138619		G	73239164	C	G	73239164	3	3	774	1	0	0	0	0	1	0	0	0	6356	826	29	4	1799	4	GGA3	17	73239164	Missense_Mutation	SNP	C	TCGA-P4-A5EA-01A-11D-A28G-10	2007128	73239164	7956046	51	45726											
MUC16	94025	hgsc.bcm.edu	37	19	9058716	9058716	+	Nonsense_Mutation	SNP	G	G	C			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr19:9058716G>C	ENST00000397910.4	-	3	28933	c.28730C>G	c.(28729-28731)tCa>tGa	p.S9577*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9579	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						AGATGACATTGACTCTATCTC	0.488																																																0													90	84	86					19																	9058716		2003	4163	6166	SO:0001587	stop_gained	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.28730C>G	chr19.hg19:g.9058716G>C	ENSP00000381008:p.Ser9577*		Q6ZQW5|Q96RK2	Nonsense_Mutation	SNP	ENST00000397910.4	hg19	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	60	44.522612	0.99986	.	.	ENSG00000181143	ENST00000397910	.	.	.	2.5	1.41	0.22369	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	6.6673	0.23047	0.0:0.0:0.7208:0.2792	.	.	.	.	X	9577	.	ENSP00000381008:S9577X	S	-	2	0	MUC16	8919716	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.009000	0.12765	0.597000	0.29811	0.305000	0.20034	TCA		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		C	9058716	G	C	9058716	4	2	774	1	0	0	0	0	0	1	0	0	9975	1294	45	4	15121	4	MUC16	19	9058716	Nonsense_Mutation	SNP	G	TCGA-P4-A5EA-01A-11D-A28G-10		9058716	50070267	52	45727											
NF2	4771	hgsc.bcm.edu	37	22	30057329	30057329	+	Splice_Site	SNP	G	G	A			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr22:30057329G>A	ENST00000338641.4	+	8	1251		c.e8+1		NF2_ENST00000334961.7_Splice_Site|NF2_ENST00000347330.5_Splice_Site|NF2_ENST00000361452.4_Splice_Site|NF2_ENST00000397789.3_Splice_Site|NF2_ENST00000413209.2_Intron|NF2_ENST00000361166.4_Splice_Site|NF2_ENST00000403435.1_Splice_Site|NF2_ENST00000353887.4_Splice_Site|NF2_ENST00000403999.3_Splice_Site|NF2_ENST00000361676.4_Splice_Site	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)						actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.?(5)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						TGACAAGGAGGTAGGACATGT	0.532			"D, Mis, N, F, S, O"		"meningioma, acoustic neuroma, renal "	"meningioma, acoustic neuroma"			Neurofibromatosis, type 2																													yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	neurofibromatosis type 2 gene		O	5	Unknown(5)	meninges(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)											117	108	111					22																	30057329		2203	4300	6503	SO:0001630	splice_region_variant	4771	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"A-kinase anchor proteins"	7773	protein-coding gene	gene with protein product	"moesin-ezrin-radixin like", "schwannomin"	607379	"neurofibromin 2 (bilateral acoustic neuroma)"			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.810+1G>A	chr22.hg19:g.30057329G>A			O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Splice_Site	SNP	ENST00000338641.4	hg19	CCDS13861.1	.	.	.	.	.	.	.	.	.	.	G	33	5.287845	0.95517	.	.	ENSG00000186575	ENST00000347330;ENST00000338641;ENST00000403435;ENST00000361452;ENST00000397822;ENST00000403999;ENST00000334961;ENST00000353887;ENST00000397789;ENST00000361676;ENST00000361166	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0795	0.97766	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NF2	28387329	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.864000	0.99589	2.747000	0.94245	0.650000	0.86243	.		0.532	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075615.3	NM_000268	Intron	A	30057329	G	A	30057329	5	1	774	1	0	0	0	0	0	0	1	0	10359	1275	44	2	841	2	NF2	22	30057329	Splice_Site	SNP	G	TCGA-P4-A5EA-01A-11D-A28G-10		30057329	21247237	53	45728											
TOM1	10043	hgsc.bcm.edu	37	22	35723290	35723290	+	Missense_Mutation	SNP	G	G	T			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr22:35723290G>T	ENST00000449058.2	+	7	800	c.675G>T	c.(673-675)gaG>gaT	p.E225D	TOM1_ENST00000436462.2_Missense_Mutation_p.E187D|TOM1_ENST00000425375.1_Missense_Mutation_p.E180D|TOM1_ENST00000411850.1_Missense_Mutation_p.E225D|TOM1_ENST00000382034.5_Missense_Mutation_p.E158D|TOM1_ENST00000447733.1_Missense_Mutation_p.E192D	NM_005488.2	NP_005479.1	O60784	TOM1_HUMAN	target of myb1 (chicken)	225	GAT. {ECO:0000255|PROSITE- ProRule:PRU00373}.				endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	clathrin binding (GO:0030276)			NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						GTGAGCTGGAGATGGTGAGTG	0.602																																																0													187	142	157					22																	35723290		2203	4300	6503	SO:0001583	missense	10043			AJ006973	CCDS13913.1, CCDS46696.1, CCDS46697.1, CCDS46698.1	22q13.1	2011-01-31	2001-11-28		ENSG00000100284	ENSG00000100284			11982	protein-coding gene	gene with protein product		604700	"target of myb1 (chicken) homolog"			10329004, 15047686	Standard	NM_005488		Approved		uc003anp.3	O60784	OTTHUMG00000150958	ENST00000449058.2:c.675G>T	chr22.hg19:g.35723290G>T	ENSP00000394466:p.Glu225Asp		B4DEL9|B4DNA1|Q5TIJ6|Q86X74	Missense_Mutation	SNP	ENST00000449058.2	hg19	CCDS13913.1	.	.	.	.	.	.	.	.	.	.	G	4.588	0.109203	0.08780	.	.	ENSG00000100284	ENST00000447733;ENST00000456128;ENST00000449058;ENST00000411850;ENST00000425375;ENST00000451197;ENST00000436462;ENST00000382034	T;T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92;0.92	5.39	4.38	0.52667	GAT (2);	0.094349	0.64402	D	0.000001	T	0.12987	0.0315	N	0.01679	-0.765	0.49582	D	0.999809	B;P;B;B;B	0.38827	0.095;0.649;0.002;0.257;0.102	B;B;B;B;B	0.37692	0.023;0.256;0.023;0.103;0.07	T	0.30446	-0.9978	10	0.02654	T	1	-7.1743	6.6853	0.23142	0.3042:0.0:0.6958:0.0	.	180;187;234;225;225	O60784-3;E7EPD0;B4DKQ5;O60784-2;O60784	.;.;.;.;TOM1_HUMAN	D	192;219;225;225;180;234;187;158	ENSP00000398876:E192D;ENSP00000393714:E219D;ENSP00000394466:E225D;ENSP00000413697:E225D;ENSP00000394924:E180D;ENSP00000402556:E187D;ENSP00000371465:E158D	ENSP00000371465:E158D	E	+	3	2	TOM1	34053290	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.774000	0.26675	1.268000	0.44264	0.655000	0.94253	GAG		0.602	TOM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320641.1	NM_005488		T	35723290	G	T	35723290	3	4	774	1	0	0	0	0	1	0	0	0	16356	933	33	4	701	4	TOM1	22	35723290	Missense_Mutation	SNP	G	TCGA-P4-A5EA-01A-11D-A28G-10	5665961	35723290	15581276	54	45729											
C22orf33	339669	hgsc.bcm.edu	37	22	37396006	37396008	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10	TCA	TCA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr22:37396006_37396008delTCA	ENST00000405091.2	-	5	758_760	c.507_509delTGA	c.(505-510)gatgaa>gaa	p.D169del	TEX33_ENST00000402860.3_In_Frame_Del_p.D84del|TEX33_ENST00000381821.1_In_Frame_Del_p.D169del			O43247	TEX33_HUMAN	testis expressed 33	169																	CTCGAAGACTTCATCAATAGCCT	0.542																																																0																																										SO:0001651	inframe_deletion	339669			BC042635	CCDS13937.1, CCDS54524.1	22q12.3	2013-10-11	2012-02-16	2012-02-16	ENSG00000185264	ENSG00000185264			28568	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 33"	C22orf33		22332119	Standard	NM_178552		Approved	MGC35206, EAN57	uc003aqf.3	O43247	OTTHUMG00000150531	ENST00000405091.2:c.507_509delTGA	chr22.hg19:g.37396009_37396011delTCA	ENSP00000386118:p.Asp169del		B1AH46|Q6ICF2|Q8IVQ2|Q9Y4V8	In_Frame_Del	DEL	ENST00000405091.2	hg19	CCDS54524.1																																																																																				0.542	TEX33-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318778.2	NM_178552		-	37396008	TCA	-	37396006	7	5	774	1	0	1	0	1	0	0	0	0	2147	1783	62	0	345	0	C22orf33	22	37396006	In_Frame_Del	DEL	TCA	TCGA-P4-A5EA-01A-11D-A28G-10	1672716	37396006	13908560	55	45730											
ZRSR2	8233	hgsc.bcm.edu	37	X	15841231	15841236	+	In_Frame_Del	DEL	AGCCGG	AGCCGG	-	rs199648317		TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10	AGCCGG	AGCCGG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chrX:15841231_15841236delAGCCGG	ENST00000307771.7	+	11	1339_1344	c.1315_1320delAGCCGG	c.(1315-1320)agccggdel	p.SR447del		NM_005089.3	NP_005080.1	Q15696	U2AFM_HUMAN	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2	447	Arg/Ser-rich (RS domain).				mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	U12-type spliceosomal complex (GO:0005689)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|pre-mRNA 3'-splice site binding (GO:0030628)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2)	48	Hepatocellular(33;0.183)					GGGCCGGGGCagccggagccggagcc	0.636			"F, S, Mis"		"MDS, CLL"																																NSCLC(197;1631 3042 5741 31152)		Rec	yes		X	Xp22.1	8233	"zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2"		L	0										17,138,2720		4,1,5,3,32,53,20,1147,368						3	0.1			9	24,75,5168		3,0,9,9,11,35,18,1934,1256	no	codingComplex	ZRSR2	NM_005089.3		7,1,14,12,43,88,38,3081,1624	A1A1,A1A2,A1R,A1,A2A2,A2R,A2,RR,R		1.8796,5.3913,3.1196				41,213,7888				SO:0001651	inframe_deletion	8233			BC050451	CCDS14172.1	Xp22.1	2014-09-17	2006-09-26	2006-09-26	ENSG00000169249	ENSG00000169249		"Zinc fingers, CCCH-type domain containing", "RNA binding motif (RRM) containing"	23019	protein-coding gene	gene with protein product		300028	"U2(RNU2) small nuclear RNA auxiliary factor 1-like 2", "U2 small nuclear RNA auxiliary factor 1-like 2"	U2AF1L2		8586425, 9237760, 15146077	Standard	NM_005089		Approved	U2AF1-RS2, URP	uc004cxg.4	Q15696	OTTHUMG00000021184	ENST00000307771.7:c.1315_1320delAGCCGG	chrX.hg19:g.15841237_15841242delAGCCGG	ENSP00000303015:p.Ser447_Arg448del		Q14D69	In_Frame_Del	DEL	ENST00000307771.7	hg19	CCDS14172.1																																																																																				0.636	ZRSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055889.1	NM_005089		-	15841236	AGCCGG	-	15841231	7	5	774	1	0	1	0	1	0	0	0	0	18230	188	7	0	1357	0	ZRSR2	23	15841231	In_Frame_Del	DEL	AGCCGG	TCGA-P4-A5EA-01A-11D-A28G-10		15841231	139429329	56	45731											
BCOR	54880	hgsc.bcm.edu	37	X	39913206	39913207	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10	AC	AC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chrX:39913206_39913207delAC	ENST00000378444.4	-	14	5136_5137	c.4908_4909delGT	c.(4906-4911)gtgtttfs	p.F1637fs	BCOR_ENST00000378455.4_Frame_Shift_Del_p.F1585fs|BCOR_ENST00000342274.4_Frame_Shift_Del_p.F1603fs|BCOR_ENST00000397354.3_Frame_Shift_Del_p.F1603fs|BCOR_ENST00000378463.1_Frame_Shift_Del_p.F480fs	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1637	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						TCAAATTCAAACACATCGCTAT	0.465			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic																																Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		0																																										SO:0001589	frameshift_variant	54880			AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"Ankyrin repeat domain containing"	20893	protein-coding gene	gene with protein product		300485	"BCL6 co-repressor"			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.4908_4909delGT	chrX.hg19:g.39913208_39913209delAC	ENSP00000367705:p.Phe1637fs		D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Frame_Shift_Del	DEL	ENST00000378444.4	hg19	CCDS48093.1																																																																																				0.465	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		-	39913207	AC	-	39913206	7	5	774	1	0	1	0	1	0	0	0	0	1386	43	2	0	366	0	BCOR	23	39913206	Frame_Shift_Del	DEL	AC	TCGA-P4-A5EA-01A-11D-A28G-10	24071975	39913206	115357354	57	45732											
ZXDB	158586	hgsc.bcm.edu	37	X	57619114	57619114	+	Silent	SNP	G	G	C			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chrX:57619114G>C	ENST00000374888.1	+	1	846	c.633G>C	c.(631-633)ccG>ccC	p.P211P		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	211					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						TGATCGCCCCGCAAGCTGGGT	0.736																																																0													9	11	11					X																	57619114		2174	4231	6405	SO:0001819	synonymous_variant	158586			L14788	CCDS35313.1	Xp11.1	2013-01-08			ENSG00000198455	ENSG00000198455		"Zinc fingers, C2H2-type"	13199	protein-coding gene	gene with protein product		300236				8268913	Standard	NM_007157		Approved	ZNF905	uc004dvd.3	P98169	OTTHUMG00000021685	ENST00000374888.1:c.633G>C	chrX.hg19:g.57619114G>C			A8K151|Q9UBB3	Silent	SNP	ENST00000374888.1	hg19	CCDS35313.1																																																																																				0.736	ZXDB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056922.1	NM_007157		C	57619114	G	C	57619114	2	2	774	1	0	0	0	0	0	0	0	1	18256	1074	38	4		4	ZXDB	23	57619114	Silent	SNP	G	TCGA-P4-A5EA-01A-11D-A28G-10	17705908	57619114	97651446	58	45733											
THOC2	57187	hgsc.bcm.edu	37	X	122757675	122757675	+	Missense_Mutation	SNP	T	T	C			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chrX:122757675T>C	ENST00000245838.8	-	28	3497	c.3466A>G	c.(3466-3468)Aaa>Gaa	p.K1156E	THOC2_ENST00000491737.1_Missense_Mutation_p.K1041E|THOC2_ENST00000355725.4_Missense_Mutation_p.K1156E	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1156					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						CTCTTCTCTTTTTCTTCTTGG	0.348																																																0													150	119	128					X																	122757675		1809	4080	5889	SO:0001583	missense	57187			AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"THO complex subunits"	19073	protein-coding gene	gene with protein product		300395	"chromosome X open reading frame 3"	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.3466A>G	chrX.hg19:g.122757675T>C	ENSP00000245838:p.Lys1156Glu		A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	ENST00000245838.8	hg19	CCDS43988.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.88|19.88	3.909495|3.909495	0.72868|0.72868	.|.	.|.	ENSG00000125676|ENSG00000125676	ENST00000245838;ENST00000355725;ENST00000491737|ENST00000438358	.|.	.|.	.|.	5.9|5.9	5.9|5.9	0.94986|0.94986	THO complex, subunitTHOC2, C-terminal (1);|.	0.000000|0.000000	0.64402|0.64402	D|D	0.000001|0.000001	T|T	0.72661|0.72661	0.3488|0.3488	M|M	0.67625|0.67625	2.065|2.065	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.85130|.	0.997|.	T|T	0.72293|0.72293	-0.4336|-0.4336	9|6	0.13470|.	T|.	0.59|.	-17.2559|-17.2559	15.2657|15.2657	0.73660|0.73660	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1156|.	Q8NI27|.	THOC2_HUMAN|.	E|R	1156;1156;1041|228	.|.	ENSP00000245838:K1156E|.	K|K	-|-	1|2	0|0	THOC2|THOC2	122585356|122585356	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.040000|8.040000	0.89188|0.89188	1.988000|1.988000	0.58038|0.58038	0.481000|0.481000	0.45027|0.45027	AAA|AAA		0.348	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3			C	122757675	T	C	122757675	3	2	774	1	0	0	0	0	1	0	0	0	15870	1850	64	3	1359	3	THOC2	23	122757675	Missense_Mutation	SNP	T	TCGA-P4-A5EA-01A-11D-A28G-10	65138561	122757675	32512885	59	45734											
AADACL4	343066	hgsc.bcm.edu	37	1	12711237	12711237	+	Silent	SNP	G	G	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr1:12711237G>T	ENST00000376221.1	+	2	264	c.264G>T	c.(262-264)gtG>gtT	p.V88V		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	88						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)		CTGAACTTGTGGTGACCGACC	0.498																																																0													98	96	97					1																	12711237		2203	4300	6503	SO:0001819	synonymous_variant	343066				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.264G>T	chr1.hg19:g.12711237G>T				Silent	SNP	ENST00000376221.1	hg19	CCDS30590.1																																																																																				0.498	AADACL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005328.1	NM_001013630		T	12711237	G	T	12711237	2	4	775	1	0	0	0	0	0	0	0	1	13	1335	47	4		4	AADACL4	1	12711237	Silent	SNP	G	TCGA-P4-A5EB-01A-11D-A28G-10		12711237	236539384	1	45735											
RHD	6007	hgsc.bcm.edu	37	1	25628090	25628090	+	Silent	SNP	G	G	A			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr1:25628090G>A	ENST00000328664.4	+	5	869	c.714G>A	c.(712-714)gtG>gtA	p.V238V	RHD_ENST00000423810.2_Silent_p.V238V|RHD_ENST00000342055.5_Silent_p.V238V|RHD_ENST00000568195.1_Silent_p.V238V|RHD_ENST00000454452.2_Silent_p.V238V|RHD_ENST00000423253.1_3'UTR|RHD_ENST00000417538.2_Silent_p.V238V|RHD_ENST00000357542.4_Silent_p.V238V	NM_001282867.1|NM_016124.3	NP_001269796.1|NP_057208	Q02161	RHD_HUMAN	Rh blood group, D antigen	238			V -> M (in RhDVa(TO) and RhDVa(TT); dbSNP:rs1053360). {ECO:0000269|Ref.9}.			integral component of plasma membrane (GO:0005887)	ammonium transmembrane transporter activity (GO:0008519)			breast(2)|large_intestine(4)|lung(7)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGAATGCCGTGTTCAACACCT	0.562																																																0													199	154	171					1																	25628090		2122	3769	5891	SO:0001819	synonymous_variant	6007			AB012623	CCDS262.1, CCDS53285.1, CCDS60027.1, CCDS60028.1, CCDS60029.1, CCDS60030.1, CCDS60031.1	1p36.11	2014-07-19	2013-10-02		ENSG00000187010	ENSG00000187010		"CD molecules", "Blood group antigens"	10009	protein-coding gene	gene with protein product		111680	"Rhesus blood group, D antigen", "Rh blood group, D antigen"	RH		8220426	Standard	NM_016124		Approved	Rh30a, Rh4, RhPI, RhII, DIIIc, CD240D	uc001bjz.3	Q02161	OTTHUMG00000003476	ENST00000328664.4:c.714G>A	chr1.hg19:g.25628090G>A			Q02162|Q07618|Q16147|Q16235|Q16355|Q5VSK0|Q5XLS9|Q5XLT1|Q5XLT2|Q9NPK0|Q9UQ20|Q9UQ21|Q9UQ22|Q9UQ23	Silent	SNP	ENST00000328664.4	hg19	CCDS262.1																																																																																				0.562	RHD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009660.5	NM_016124		A	25628090	G	A	25628090	2	1	775	1	0	0	0	0	0	0	0	1	13333	1364	48	2		2	RHD	1	25628090	Silent	SNP	G	TCGA-P4-A5EB-01A-11D-A28G-10	12916853	25628090	223622531	2	45736											
CSMD2	114784	hgsc.bcm.edu	37	1	34015918	34015918	+	Missense_Mutation	SNP	G	G	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr1:34015918G>T	ENST00000373381.4	-	56	8952	c.8776C>A	c.(8776-8778)Cac>Aac	p.H2926N		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2901	Sushi 21. {ECO:0000255|PROSITE- ProRule:PRU00302}.					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)				ATCTGGGAGTGAGGCGGGGAG	0.572																																																0													58	57	57					1																	34015918		2203	4300	6503	SO:0001583	missense	114784			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.8776C>A	chr1.hg19:g.34015918G>T	ENSP00000362479:p.His2926Asn		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	hg19		.	.	.	.	.	.	.	.	.	.	G	0.673	-0.801317	0.02841	.	.	ENSG00000121904	ENST00000373381	T	0.64618	-0.11	5.71	5.71	0.89125	Complement control module (2);Sushi/SCR/CCP (3);	0.060404	0.64402	D	0.000002	T	0.27241	0.0668	N	0.00661	-1.28	0.80722	D	1	B;B	0.09022	0.002;0.001	B;B	0.14023	0.01;0.01	T	0.43294	-0.9400	10	0.02654	T	1	.	13.8354	0.63406	0.0:0.0:0.8474:0.1526	.	2782;2926	Q7Z408;E7EUA6	CSMD2_HUMAN;.	N	2926	ENSP00000362479:H2926N	ENSP00000241312:H2782N	H	-	1	0	CSMD2	33788505	1.000000	0.71417	0.982000	0.44146	0.320000	0.28249	3.614000	0.54160	2.720000	0.93068	0.650000	0.86243	CAC		0.572	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		T	34015918	G	T	34015918	3	4	775	1	0	0	0	0	1	0	0	0	3947	1290	45	4	2179	4	CSMD2	1	34015918	Missense_Mutation	SNP	G	TCGA-P4-A5EB-01A-11D-A28G-10	8387828	34015918	215234703	3	45737											
MACF1	23499	hgsc.bcm.edu	37	1	39853737	39853737	+	Missense_Mutation	SNP	G	G	C			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr1:39853737G>C	ENST00000372915.3	+	57	15325	c.15238G>C	c.(15238-15240)Ggt>Cgt	p.G5080R	MACF1_ENST00000361689.2_Missense_Mutation_p.G3013R|MACF1_ENST00000289893.4_Missense_Mutation_p.G3515R|MACF1_ENST00000564288.1_Missense_Mutation_p.G5075R|MACF1_ENST00000539005.1_Missense_Mutation_p.G2992R|MACF1_ENST00000317713.7_Missense_Mutation_p.G3013R|MACF1_ENST00000567887.1_Missense_Mutation_p.G5112R|MACF1_ENST00000545844.1_Missense_Mutation_p.G3013R			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5080					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)			CTTTACTCAGGGTCTGGTAGA	0.502																																																0													51	52	52					1																	39853737		2203	4300	6503	SO:0001583	missense	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.15238G>C	chr1.hg19:g.39853737G>C	ENSP00000362006:p.Gly5080Arg		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.13|17.13	3.311133|3.311133	0.60414|0.60414	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	.|T;T;T;T;T;T	.|0.32272	.|1.46;1.46;1.46;1.46;1.46;1.46	6.03|6.03	6.03|6.03	0.97812|0.97812	.|.	0.000000|0.000000	0.64402|0.64402	D|D	0.000005|0.000005	T|T	0.55273|0.55273	0.1910|0.1910	L|L	0.58101|0.58101	1.795|1.795	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.99;0.991	.|D;D;D	.|0.97110	.|1.0;0.952;0.962	T|T	0.43475|0.43475	-0.9389|-0.9389	6|10	.|0.44086	.|T	.|0.13	.|.	20.5568|20.5568	0.99304|0.99304	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|5080;3013;2957	.|Q9UPN3;F8W8Q1;Q9UPN3-3	.|MACF1_HUMAN;.;.	A|R	2125|3013;5080;3013;3013;2992;3515	.|ENSP00000439537:G3013R;ENSP00000362006:G5080R;ENSP00000354573:G3013R;ENSP00000313438:G3013R;ENSP00000444364:G2992R;ENSP00000289893:G3515R	.|ENSP00000289893:G3515R	G|G	+|+	2|1	0|0	MACF1|MACF1	39626324|39626324	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.947000|0.947000	0.59692|0.59692	9.869000|9.869000	0.99810|0.99810	2.861000|2.861000	0.98227|0.98227	0.655000|0.655000	0.94253|0.94253	GGG|GGT		0.502	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		C	39853737	G	C	39853737	3	2	775	1	0	0	0	0	1	0	0	0	9146	1232	43	4	15398	4	MACF1	1	39853737	Missense_Mutation	SNP	G	TCGA-P4-A5EB-01A-11D-A28G-10	5837819	39853737	209396884	4	45738											
MAST2	23139	hgsc.bcm.edu	37	1	46496701	46496702	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	TC	TC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr1:46496701_46496702delTC	ENST00000361297.2	+	23	3014_3015	c.2731_2732delTC	c.(2731-2733)tctfs	p.S911fs	MAST2_ENST00000372009.2_Frame_Shift_Del_p.S841fs	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)					GCTGTCGGTGTCTGAGTCATCC	0.629																																																0																																										SO:0001589	frameshift_variant	23139			AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.2731_2732delTC	chr1.hg19:g.46496701_46496702delTC	ENSP00000354671:p.Ser911fs			Frame_Shift_Del	DEL	ENST00000361297.2	hg19	CCDS41326.1																																																																																				0.629	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112		-	46496702	TC	-	46496701	7	5	775	1	0	1	0	1	0	0	0	0	9327	1667	58	0	2821	0	MAST2	1	46496701	Frame_Shift_Del	DEL	TC	TCGA-P4-A5EB-01A-11D-A28G-10	6642964	46496701	202753920	5	45739											
PCSK9	255738	hgsc.bcm.edu	37	1	55529096	55529096	+	Frame_Shift_Del	DEL	G	G	-			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr1:55529096delG	ENST00000302118.5	+	12	2208	c.1918delG	c.(1918-1920)gggfs	p.G640fs	PCSK9_ENST00000543384.1_3'UTR|PCSK9_ENST00000490692.1_3'UTR	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	640	C-terminal domain.				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						TGCCCTCCCTGGGACCTCCCA	0.662																																					Pancreas(137;1454 1827 5886 22361 42375)											0													34	34	34					1																	55529096		2203	4300	6503	SO:0001589	frameshift_variant	255738			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.1918delG	chr1.hg19:g.55529096delG	ENSP00000303208:p.Gly640fs		A8T640|C0JYY9|Q5PSM5|Q5SZQ2	Frame_Shift_Del	DEL	ENST00000302118.5	hg19	CCDS603.1																																																																																				0.662	PCSK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022280.1	NM_174936		-	55529096	G	-	55529096	7	5	775	1	0	1	0	1	0	0	0	0	11608	1348	47	0	1964	0	PCSK9	1	55529096	Frame_Shift_Del	DEL	G	TCGA-P4-A5EB-01A-11D-A28G-10	9032395	55529096	193721525	6	45740											
ITGB3BP	23421	hgsc.bcm.edu	37	1	63974218	63974218	+	Missense_Mutation	SNP	T	T	G			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr1:63974218T>G	ENST00000271002.10	-	2	110	c.29A>C	c.(28-30)gAt>gCt	p.D10A	ITGB3BP_ENST00000371092.3_Missense_Mutation_p.D49A|ITGB3BP_ENST00000283568.8_Missense_Mutation_p.D10A	NM_014288.4	NP_055103.3	Q13352	CENPR_HUMAN	integrin beta 3 binding protein (beta3-endonexin)	10					apoptotic signaling pathway (GO:0097190)|cell adhesion (GO:0007155)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|signal transducer activity (GO:0004871)	p.D10G(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9						TAACAGACCATCCAACTTCAG	0.259																																																1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											28	28	28					1																	63974218		2149	4215	6364	SO:0001583	missense	23421			U37139	CCDS30736.1, CCDS55603.1	1p31.3	2013-11-05			ENSG00000142856	ENSG00000142856			6157	protein-coding gene	gene with protein product	"centromere protein R"	605494				7593198, 10490654	Standard	NM_014288		Approved	NRIF3, HSU37139, TAP20, CENPR	uc001dbb.2	Q13352	OTTHUMG00000013364	ENST00000271002.10:c.29A>C	chr1.hg19:g.63974218T>G	ENSP00000271002:p.Asp10Ala		B2R7D8|Q13353|Q5RJ42|Q5RJ44|Q5RJ45|Q7KYX2|Q96CD5|Q9UKB6	Missense_Mutation	SNP	ENST00000271002.10	hg19	CCDS30736.1	.	.	.	.	.	.	.	.	.	.	T	3.341	-0.134587	0.06711	.	.	ENSG00000142856	ENST00000271002;ENST00000371092;ENST00000283568	T;T;T	0.67698	-0.27;0.25;-0.28	4.91	3.79	0.43588	.	0.260117	0.25997	N	0.026964	T	0.46073	0.1374	N	0.19112	0.55	0.38496	D	0.948093	P;P;P	0.51537	0.944;0.946;0.78	P;P;B	0.50825	0.651;0.592;0.265	T	0.53947	-0.8366	10	0.66056	D	0.02	-2.1447	10.3835	0.44125	0.0:0.0772:0.0:0.9228	.	10;49;10	Q13352-2;Q13352-5;Q13352	.;.;CENPR_HUMAN	A	10;49;10	ENSP00000271002:D10A;ENSP00000360133:D49A;ENSP00000283568:D10A	ENSP00000271002:D10A	D	-	2	0	ITGB3BP	63746806	1.000000	0.71417	0.469000	0.27204	0.029000	0.11900	5.252000	0.65445	0.732000	0.32470	-0.256000	0.11100	GAT		0.259	ITGB3BP-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000037242.2	NM_014288		G	63974218	T	G	63974218	3	3	775	1	0	0	0	0	1	0	0	0	7898	1435	50	5	532	5	ITGB3BP	1	63974218	Missense_Mutation	SNP	T	TCGA-P4-A5EB-01A-11D-A28G-10	8445122	63974218	185276403	7	45741											
GNG12	55970	hgsc.bcm.edu	37	1	68171150	68171150	+	Missense_Mutation	SNP	G	G	C			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr1:68171150G>C	ENST00000370982.3	-	4	402	c.203C>G	c.(202-204)aCt>aGt	p.T68S		NM_018841.5	NP_061329.3	Q9UBI6	GBG12_HUMAN	guanine nucleotide binding protein (G protein), gamma 12	68					cellular response to glucagon stimulus (GO:0071377)|cerebral cortex development (GO:0021987)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|phosphate ion binding (GO:0042301)|signal transducer activity (GO:0004871)			lung(3)	3						GATGATGCAAGTTTTTTTATC	0.433																																																0													173	163	167					1																	68171150		2203	4300	6503	SO:0001583	missense	55970			AF119663	CCDS30749.1	1p31.2	2008-02-05			ENSG00000172380	ENSG00000172380			19663	protein-coding gene	gene with protein product		615405				10819326	Standard	NM_018841		Approved		uc001dea.2	Q9UBI6	OTTHUMG00000009545	ENST00000370982.3:c.203C>G	chr1.hg19:g.68171150G>C	ENSP00000360021:p.Thr68Ser		Q69YP5|Q9BRV5	Missense_Mutation	SNP	ENST00000370982.3	hg19	CCDS30749.1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.282741	0.59867	.	.	ENSG00000172380	ENST00000370982	T	0.20200	2.09	5.79	5.79	0.91817	G-protein gamma domain (3);	0.054877	0.85682	D	0.000000	T	0.05502	0.0145	.	.	.	0.41685	D	0.98931	B	0.27625	0.183	B	0.31495	0.131	T	0.08146	-1.0736	9	0.02654	T	1	-5.209	18.8047	0.92032	0.0:0.0:1.0:0.0	.	68	Q9UBI6	GBG12_HUMAN	S	68	ENSP00000360021:T68S	ENSP00000360021:T68S	T	-	2	0	GNG12	67943738	1.000000	0.71417	0.993000	0.49108	0.993000	0.82548	7.072000	0.76777	2.749000	0.94314	0.491000	0.48974	ACT		0.433	GNG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026355.2			C	68171150	G	C	68171150	3	2	775	1	0	0	0	0	1	0	0	0	6527	1029	36	4	19	4	GNG12	1	68171150	Missense_Mutation	SNP	G	TCGA-P4-A5EB-01A-11D-A28G-10	4196932	68171150	181079471	8	45742											
ZBTB7B	51043	hgsc.bcm.edu	37	1	154987232	154987232	+	Missense_Mutation	SNP	C	C	G			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr1:154987232C>G	ENST00000368426.3	+	3	233	c.96C>G	c.(94-96)caC>caG	p.H32Q	ZBTB7B_ENST00000535420.1_Missense_Mutation_p.H32Q|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.H66Q|ZBTB7B_ENST00000487542.1_3'UTR|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.H32Q	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	32					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)			AGCTGGGCCACCTATGTGACC	0.587																																																0													68	69	69					1																	154987232		2203	4300	6503	SO:0001583	missense	51043			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.96C>G	chr1.hg19:g.154987232C>G	ENSP00000357411:p.His32Gln		B4E3K5|D3DV83|J3KQQ3|Q68DR2|Q96EP2	Missense_Mutation	SNP	ENST00000368426.3	hg19	CCDS1081.1	.	.	.	.	.	.	.	.	.	.	C	10.76	1.439712	0.25900	.	.	ENSG00000160685	ENST00000535420;ENST00000368426;ENST00000417934;ENST00000292176	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2	3.59	-1.19	0.09585	BTB/POZ (1);BTB/POZ fold (2);	0.413847	0.21695	N	0.070510	T	0.12561	0.0305	N	0.02539	-0.55	0.27857	N	0.940546	B;B;B	0.09022	0.002;0.001;0.002	B;B;B	0.08055	0.003;0.002;0.003	T	0.21075	-1.0256	10	0.66056	D	0.02	.	5.0228	0.14370	0.0:0.4765:0.1713:0.3521	.	32;32;66	A8K6F4;O15156;B4E3K5	.;ZBT7B_HUMAN;.	Q	32;32;66;32	ENSP00000438647:H32Q;ENSP00000357411:H32Q;ENSP00000406286:H66Q;ENSP00000292176:H32Q	ENSP00000292176:H32Q	H	+	3	2	ZBTB7B	153253856	0.762000	0.28451	0.963000	0.40424	0.981000	0.71138	-0.185000	0.09684	-0.072000	0.12864	-0.379000	0.06801	CAC		0.587	ZBTB7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091083.1	NM_015872		G	154987232	C	G	154987232	3	3	775	1	0	0	0	0	1	0	0	0	17559	506	18	4	98	4	ZBTB7B	1	154987232	Missense_Mutation	SNP	C	TCGA-P4-A5EB-01A-11D-A28G-10	86816082	154987232	94263389	9	45743											
RCOR3	55758	hgsc.bcm.edu	37	1	211462545	211462545	+	Missense_Mutation	SNP	C	C	A			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr1:211462545C>A	ENST00000367005.4	+	7	713	c.572C>A	c.(571-573)aCt>aAt	p.T191N	RCOR3_ENST00000419091.2_Missense_Mutation_p.T249N|RCOR3_ENST00000367006.4_Missense_Mutation_p.T249N|RCOR3_ENST00000452621.2_Missense_Mutation_p.T249N	NM_018254.3	NP_060724.1	Q9P2K3	RCOR3_HUMAN	REST corepressor 3	191					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		CCTGTCCAAACTAGCAAGATT	0.378																																																0													127	113	118					1																	211462545		2203	4300	6503	SO:0001583	missense	55758			AK001738	CCDS31016.1, CCDS44312.1, CCDS44313.1, CCDS44314.1	1q32.3	2008-02-05			ENSG00000117625	ENSG00000117625			25594	protein-coding gene	gene with protein product						10718198	Standard	NM_018254		Approved	FLJ10876	uc010psw.2	Q9P2K3	OTTHUMG00000036996	ENST00000367005.4:c.572C>A	chr1.hg19:g.211462545C>A	ENSP00000355972:p.Thr191Asn		B3KYA2|B4DYY7|Q5VT47|Q7L9I5|Q8N5U3|Q9NV83	Missense_Mutation	SNP	ENST00000367005.4	hg19	CCDS31016.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.33|13.33	2.205841|2.205841	0.39003|0.39003	.|.	.|.	ENSG00000117625|ENSG00000117625	ENST00000534460|ENST00000367006;ENST00000452621;ENST00000419091;ENST00000367005;ENST00000529763	.|T;T;T;T	.|0.28454	.|1.61;1.61;1.61;1.61	5.62|5.62	4.7|4.7	0.59300|0.59300	.|.	.|0.488580	.|0.25119	.|N	.|0.032996	T|T	0.17874|0.17874	0.0429|0.0429	N|N	0.11201|0.11201	0.11|0.11	0.38814|0.38814	D|D	0.955493|0.955493	.|B;B;B;B	.|0.17268	.|0.002;0.0;0.021;0.018	.|B;B;B;B	.|0.15052	.|0.003;0.001;0.006;0.012	T|T	0.06250|0.06250	-1.0837|-1.0837	5|10	.|0.14252	.|T	.|0.57	-7.2822|-7.2822	16.1088|16.1088	0.81244|0.81244	0.0:0.8548:0.1452:0.0|0.0:0.8548:0.1452:0.0	.|.	.|249;191;249;249	.|Q9P2K3-3;Q9P2K3;Q9P2K3-2;Q9P2K3-4	.|.;RCOR3_HUMAN;.;.	K|N	35|249;249;249;191;9	.|ENSP00000355973:T249N;ENSP00000398558:T249N;ENSP00000413929:T249N;ENSP00000355972:T191N	.|ENSP00000355972:T191N	N|T	+|+	3|2	2|0	RCOR3|RCOR3	209529168|209529168	0.981000|0.981000	0.34729|0.34729	0.995000|0.995000	0.50966|0.50966	0.997000|0.997000	0.91878|0.91878	2.148000|2.148000	0.42235|0.42235	1.335000|1.335000	0.45486|0.45486	0.655000|0.655000	0.94253|0.94253	AAC|ACT		0.378	RCOR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089821.1	NM_018254		A	211462545	C	A	211462545	3	1	775	1	0	0	0	0	1	0	0	0	13190	565	20	4	776	4	RCOR3	1	211462545	Missense_Mutation	SNP	C	TCGA-P4-A5EB-01A-11D-A28G-10	56475313	211462545	37788076	10	45744											
AKT3	10000	hgsc.bcm.edu	37	1	243800913	243800913	+	Splice_Site	SNP	C	C	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr1:243800913C>T	ENST00000366539.1	-	6	761	c.561G>A	c.(559-561)aaG>aaA	p.K187K	AKT3_ENST00000263826.5_Splice_Site_p.K187K|AKT3_ENST00000366540.1_Splice_Site_p.K187K|AKT3_ENST00000336199.5_Splice_Site_p.K187K			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	187	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mitochondrial genome maintenance (GO:0000002)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			AATCAGTTACCTTTGCAATAA	0.328																																																0													81	81	81					1																	243800913		2202	4295	6497	SO:0001630	splice_region_variant	10000			AF124141	CCDS31076.1, CCDS31077.1	1q44	2013-07-09	2013-07-09		ENSG00000117020	ENSG00000117020	2.7.11.1	"Pleckstrin homology (PH) domain containing"	393	protein-coding gene	gene with protein product	"protein kinase B, gamma"	611223				10092583, 10208883	Standard	NM_005465		Approved	PKBG, RAC-gamma, PRKBG	uc001iab.2	Q9Y243	OTTHUMG00000039994	ENST00000366539.1:c.561+1G>A	chr1.hg19:g.243800913C>T			Q0VAA6|Q5VTI1|Q5VTI2|Q96QV3|Q9UFP5	Silent	SNP	ENST00000366539.1	hg19	CCDS31077.1																																																																																				0.328	AKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096479.1	NM_181690	Silent	T	243800913	C	T	243800913	5	4	775	1	0	0	0	0	0	0	1	0	481	695	24	2	962	2	AKT3	1	243800913	Splice_Site	SNP	C	TCGA-P4-A5EB-01A-11D-A28G-10	32338368	243800913	5449708	11	45745											
KCNS3	3790	hgsc.bcm.edu	37	2	18113163	18113163	+	Missense_Mutation	SNP	G	G	C			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr2:18113163G>C	ENST00000403915.1	+	3	1339	c.888G>C	c.(886-888)agG>agC	p.R296S	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Missense_Mutation_p.R296S	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	296					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GGCTTATGAGGATTTTCCGAA	0.502																																																0													109	107	108					2																	18113163		2203	4300	6503	SO:0001583	missense	3790			AF043472	CCDS1692.1	2p24	2011-07-05			ENSG00000170745	ENSG00000170745		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6302	protein-coding gene	gene with protein product		603888				10484328, 16382104	Standard	NM_002252		Approved	Kv9.3	uc002rcw.3	Q9BQ31	OTTHUMG00000044150	ENST00000403915.1:c.888G>C	chr2.hg19:g.18113163G>C	ENSP00000385968:p.Arg296Ser		D6W520|O43651|Q4ZFY1|Q96B56	Missense_Mutation	SNP	ENST00000403915.1	hg19	CCDS1692.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.808968	0.50421	.	.	ENSG00000170745	ENST00000403915;ENST00000304101	D;D	0.99594	-6.25;-6.25	5.86	1.98	0.26296	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99638	0.9867	H	0.96301	3.8	0.52099	D	0.999942	D	0.76494	0.999	D	0.85130	0.997	D	0.99194	1.0871	10	0.87932	D	0	.	6.5286	0.22314	0.2607:0.1183:0.621:0.0	.	296	Q9BQ31	KCNS3_HUMAN	S	296	ENSP00000385968:R296S;ENSP00000305824:R296S	ENSP00000305824:R296S	R	+	3	2	KCNS3	17976644	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.263000	0.33004	0.374000	0.24650	0.655000	0.94253	AGG		0.502	KCNS3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323808.1	NM_002252		C	18113163	G	C	18113163	3	2	775	1	0	0	0	0	1	0	0	0	8092	1165	41	4	890	4	KCNS3	2	18113163	Missense_Mutation	SNP	G	TCGA-P4-A5EB-01A-11D-A28G-10		18113163	225086210	12	45746											
KHK	3795	hgsc.bcm.edu	37	2	27315218	27315218	+	Missense_Mutation	SNP	G	G	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr2:27315218G>T	ENST00000260599.6	+	2	624	c.111G>T	c.(109-111)tgG>tgT	p.W37C	KHK_ENST00000260598.5_Missense_Mutation_p.W37C|KHK_ENST00000490823.1_3'UTR	NM_000221.2	NP_000212.1	P50053	KHK_HUMAN	ketohexokinase (fructokinase)	37					carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose catabolic process (GO:0006001)|regulation of glycogen metabolic process (GO:0070873)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ketohexokinase activity (GO:0004454)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCAGAGATGGCAGCGCGGAG	0.607																																																0													91	80	84					2																	27315218		2203	4300	6503	SO:0001583	missense	3795				CCDS1734.1, CCDS1735.1	2p23.3-p23.2	2008-02-05			ENSG00000138030	ENSG00000138030	2.7.1.3		6315	protein-coding gene	gene with protein product		614058				7833921	Standard	NM_000221		Approved		uc002rim.2	P50053	OTTHUMG00000097077	ENST00000260599.6:c.111G>T	chr2.hg19:g.27315218G>T	ENSP00000260599:p.Trp37Cys		Q6IBK2|Q99532|Q9BRJ3|Q9UMN1	Missense_Mutation	SNP	ENST00000260599.6	hg19	CCDS1734.1	.	.	.	.	.	.	.	.	.	.	G	15.16	2.750913	0.49257	.	.	ENSG00000138030	ENST00000260599;ENST00000260598;ENST00000429697	T;T;T	0.75938	-0.98;-0.98;-0.98	5.5	5.5	0.81552	Carbohydrate/purine kinase (1);	0.000000	0.85682	D	0.000000	D	0.88377	0.6420	M	0.90082	3.085	0.80722	D	1	D;P;D	0.76494	0.999;0.495;0.999	D;B;D	0.75020	0.985;0.122;0.985	D	0.89208	0.3562	10	0.46703	T	0.11	-18.2402	16.8828	0.86067	0.0:0.0:1.0:0.0	.	37;37;37	Q6IBK2;P50053-2;P50053	.;.;KHK_HUMAN	C	37	ENSP00000260599:W37C;ENSP00000260598:W37C;ENSP00000404741:W37C	ENSP00000260598:W37C	W	+	3	0	KHK	27168722	1.000000	0.71417	1.000000	0.80357	0.325000	0.28411	8.964000	0.93389	2.595000	0.87683	0.462000	0.41574	TGG		0.607	KHK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214196.1			T	27315218	G	T	27315218	3	4	775	1	0	0	0	0	1	0	0	0	8151	1212	42	4	117	4	KHK	2	27315218	Missense_Mutation	SNP	G	TCGA-P4-A5EB-01A-11D-A28G-10	9202055	27315218	215884155	13	45747											
ERLEC1	27248	hgsc.bcm.edu	37	2	54028861	54028861	+	Missense_Mutation	SNP	C	C	A			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr2:54028861C>A	ENST00000185150.4	+	8	892	c.761C>A	c.(760-762)tCt>tAt	p.S254Y	ERLEC1_ENST00000378239.5_Missense_Mutation_p.S254Y|ERLEC1_ENST00000405123.3_Missense_Mutation_p.S254Y|GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron	NM_015701.4	NP_056516.2	Q96DZ1	ERLEC_HUMAN	endoplasmic reticulum lectin 1	254					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	glycoprotein binding (GO:0001948)			endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						TTCAGAGCATCTCCTGTGAAT	0.418																																																0													102	92	96					2																	54028861		2203	4300	6503	SO:0001583	missense	27248			AF131849	CCDS1848.1, CCDS46283.1, CCDS46284.1	2p16	2010-03-19	2009-08-26	2009-08-26	ENSG00000068912	ENSG00000068912			25222	protein-coding gene	gene with protein product	"erlectin 1"	611229	"chromosome 2 open reading frame 30"	C2orf30		9110174, 8619474, 16531414, 18264092	Standard	NM_015701		Approved	CL25084, XTP3TPB, XTP3-B, ERLECTIN	uc002rxl.3	Q96DZ1	OTTHUMG00000129281	ENST00000185150.4:c.761C>A	chr2.hg19:g.54028861C>A	ENSP00000185150:p.Ser254Tyr		B2RDB4|B5MC72|O95901|Q6UWN7|Q9NUY7|Q9UQL4	Missense_Mutation	SNP	ENST00000185150.4	hg19	CCDS1848.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.909863	0.92107	.	.	ENSG00000068912	ENST00000405123;ENST00000185150;ENST00000378239	T;T	0.47528	0.84;0.84	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.71350	0.3329	.	.	.	0.80722	D	1	D;P;D	0.71674	0.997;0.756;0.998	D;B;D	0.69479	0.964;0.283;0.931	T	0.72567	-0.4254	9	0.72032	D	0.01	-13.4706	20.4024	0.99000	0.0:1.0:0.0:0.0	.	254;254;254	Q96DZ1-2;B5MC72;Q96DZ1	.;.;ERLEC_HUMAN	Y	254	ENSP00000385629:S254Y;ENSP00000185150:S254Y	ENSP00000185150:S254Y	S	+	2	0	ERLEC1	53882365	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.827000	0.97445	0.650000	0.86243	TCT		0.418	ERLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251404.1	NM_015701		A	54028861	C	A	54028861	3	1	775	1	0	0	0	0	1	0	0	0	5233	913	32	4	791	4	ERLEC1	2	54028861	Missense_Mutation	SNP	C	TCGA-P4-A5EB-01A-11D-A28G-10	26713643	54028861	189170512	14	45748											
NAGK	55577	hgsc.bcm.edu	37	2	71304704	71304704	+	Missense_Mutation	SNP	A	A	G			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr2:71304704A>G	ENST00000244204.6	+	9	844	c.782A>G	c.(781-783)aAg>aGg	p.K261R	NAGK_ENST00000443872.2_Missense_Mutation_p.K113R|NAGK_ENST00000455662.2_Missense_Mutation_p.K307R|NAGK_ENST00000443938.2_Missense_Mutation_p.K257R|NAGK_ENST00000418807.3_Missense_Mutation_p.K210R			Q9UJ70	NAGK_HUMAN	N-acetylglucosamine kinase	261					carbohydrate phosphorylation (GO:0046835)|N-acetylglucosamine metabolic process (GO:0006044)|N-acetylmannosamine metabolic process (GO:0006051)|N-acetylneuraminate catabolic process (GO:0019262)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|N-acetylglucosamine kinase activity (GO:0045127)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|urinary_tract(1)	18					N-Acetyl-D-glucosamine(DB00141)	TTCCAGGGCAAGATTGGACTC	0.602																																																0													66	53	57					2																	71304704		2203	4300	6503	SO:0001583	missense	55577			AJ242910	CCDS33220.1, CCDS33220.2	2p24.3-p24.1	2008-02-05			ENSG00000124357	ENSG00000124357	2.7.1.59		17174	protein-coding gene	gene with protein product		606828				10824116	Standard	NM_017567		Approved	GNK	uc002shp.4	Q9UJ70	OTTHUMG00000153239	ENST00000244204.6:c.782A>G	chr2.hg19:g.71304704A>G	ENSP00000244204:p.Lys261Arg		B4DLZ5|Q53HD5|Q6IA84|Q9BS29|Q9BVP0|Q9NV37	Missense_Mutation	SNP	ENST00000244204.6	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.73|11.73	1.724892|1.724892	0.30593|0.30593	.|.	.|.	ENSG00000124357|ENSG00000124357	ENST00000244204;ENST00000455662;ENST00000418807|ENST00000443938	T;T;T|.	0.44083|.	1.52;1.49;0.93|.	5.63|5.63	1.85|1.85	0.25348|0.25348	ATPase, BadF/BadG/BcrA/BcrD type (1);|.	0.811995|.	0.11191|.	N|.	0.589950|.	T|T	0.17619|0.17619	0.0423|0.0423	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.04013|.	0.001|.	T|T	0.18398|0.18398	-1.0338|-1.0338	10|5	0.18276|.	T|.	0.48|.	-17.2471|-17.2471	2.0065|2.0065	0.03478|0.03478	0.4877:0.2795:0.0916:0.1411|0.4877:0.2795:0.0916:0.1411	.|.	261|.	Q9UJ70|.	NAGK_HUMAN|.	R|G	261;307;210|279	ENSP00000244204:K261R;ENSP00000389087:K307R;ENSP00000396070:K210R|.	ENSP00000244204:K261R|.	K|R	+|+	2|1	0|2	NAGK|NAGK	71158212|71158212	0.037000|0.037000	0.19845|0.19845	0.003000|0.003000	0.11579|0.11579	0.043000|0.043000	0.13939|0.13939	1.412000|1.412000	0.34714|0.34714	0.937000|0.937000	0.37394|0.37394	-0.336000|-0.336000	0.08194|0.08194	AAG|AGA		0.602	NAGK-032	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471889.1			G	71304704	A	G	71304704	3	3	775	1	0	0	0	0	1	0	0	0	10144	72	3	3	954	3	NAGK	2	71304704	Missense_Mutation	SNP	A	TCGA-P4-A5EB-01A-11D-A28G-10	17275843	71304704	171894669	15	45749											
UGGT1	56886	hgsc.bcm.edu	37	2	128941262	128941262	+	Missense_Mutation	SNP	G	G	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr2:128941262G>T	ENST00000259253.6	+	38	4305	c.4258G>T	c.(4258-4260)Gtg>Ttg	p.V1420L	UGGT1_ENST00000375990.3_Missense_Mutation_p.V1396L	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	1420	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						ACTATATGTTGTGGATCTGAA	0.438																																																0													107	102	104					2																	128941262		2203	4300	6503	SO:0001583	missense	56886			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.4258G>T	chr2.hg19:g.128941262G>T	ENSP00000259253:p.Val1420Leu		Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	ENST00000259253.6	hg19	CCDS2154.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.733269	0.89482	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.37411	1.2;1.2	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.71978	0.3404	H	0.96175	3.78	0.80722	D	1	D	0.71674	0.998	D	0.69307	0.963	T	0.82600	-0.0377	9	.	.	.	.	18.0955	0.89488	0.0:0.0:1.0:0.0	.	1420	Q9NYU2	UGGG1_HUMAN	L	1396;1420	ENSP00000365158:V1396L;ENSP00000259253:V1420L	.	V	+	1	0	UGGT1	128657732	1.000000	0.71417	0.994000	0.49952	0.844000	0.47949	9.090000	0.94144	2.577000	0.86979	0.563000	0.77884	GTG		0.438	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120		T	128941262	G	T	128941262	3	4	775	1	0	0	0	0	1	0	0	0	16946	1377	48	4	4408	4	UGGT1	2	128941262	Missense_Mutation	SNP	G	TCGA-P4-A5EB-01A-11D-A28G-10	57636558	128941262	114258111	16	45750											
YSK4	80122	hgsc.bcm.edu	37	2	135744072	135744072	+	Missense_Mutation	SNP	C	C	G			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr2:135744072C>G	ENST00000375845.3	-	7	2400	c.2370G>C	c.(2368-2370)caG>caC	p.Q790H	MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.Q807H|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.Q677H	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	790							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										GCTCAGGTGTCTGAGCCAAGT	0.398																																																0													65	65	65					2																	135744072		2203	4300	6503	SO:0001583	missense	80122			AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	26249	protein-coding gene	gene with protein product			"Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.2370G>C	chr2.hg19:g.135744072C>G	ENSP00000365005:p.Gln790His		B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	hg19	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	C	0.926	-0.714163	0.03206	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915;ENST00000437365	T;T;T;T	0.72615	-0.53;-0.53;1.83;-0.67	4.61	0.257	0.15574	.	0.519636	0.16240	N	0.223204	T	0.48607	0.1509	N	0.17082	0.46	0.09310	N	0.999998	B;B;B	0.23854	0.023;0.092;0.014	B;B;B	0.22880	0.028;0.042;0.013	T	0.31971	-0.9924	10	0.35671	T	0.21	.	6.5935	0.22659	0.0:0.5532:0.2308:0.2159	.	677;807;790	Q56UN5-3;A8MWG7;Q56UN5	.;.;YSK4_HUMAN	H	790;677;807;180	ENSP00000365005:Q790H;ENSP00000351140:Q677H;ENSP00000376647:Q807H;ENSP00000392827:Q180H	ENSP00000351140:Q677H	Q	-	3	2	YSK4	135460542	0.000000	0.05858	0.005000	0.12908	0.148000	0.21650	-0.294000	0.08309	0.133000	0.18654	0.407000	0.27541	CAG		0.398	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		G	135744072	C	G	135744072	3	3	775	1	0	0	0	0	1	0	0	0	17500	912	32	4	1632	4	YSK4	2	135744072	Missense_Mutation	SNP	C	TCGA-P4-A5EB-01A-11D-A28G-10	6802810	135744072	107455301	17	45751											
GCA	25801	hgsc.bcm.edu	37	2	163208899	163208899	+	Missense_Mutation	SNP	A	A	C			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr2:163208899A>C	ENST00000437150.2	+	3	405	c.244A>C	c.(244-246)Att>Ctt	p.I82L	GCA_ENST00000233612.4_Missense_Mutation_p.I63L|GCA_ENST00000473240.1_3'UTR|GCA_ENST00000429691.2_Missense_Mutation_p.I63L	NM_012198.3	NP_036330.1	P28676	GRAN_HUMAN	grancalcin, EF-hand calcium binding protein	82	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				membrane fusion (GO:0061025)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	9						ACAGTCTGGAATTAATGGAAC	0.308																																																0													175	175	175					2																	163208899		2203	4300	6503	SO:0001583	missense	25801			M81637	CCDS2218.1	2q24.2	2013-01-10	2001-11-28		ENSG00000115271	ENSG00000115271		"EF-hand domain containing"	15990	protein-coding gene	gene with protein product		607030	"grancalcin, EF-hand calcium-binding protein"			1737748, 1530588, 12804766	Standard	NM_012198		Approved	GCL	uc002ucg.3	P28676	OTTHUMG00000132057	ENST00000437150.2:c.244A>C	chr2.hg19:g.163208899A>C	ENSP00000394842:p.Ile82Leu		B2R5X3|Q53TB5|Q59EP3	Missense_Mutation	SNP	ENST00000437150.2	hg19	CCDS2218.1	.	.	.	.	.	.	.	.	.	.	A	15.48	2.845886	0.51164	.	.	ENSG00000115271	ENST00000446271;ENST00000429691;ENST00000437150;ENST00000453113;ENST00000233612	T;T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92;-0.92	5.19	5.19	0.71726	EF-hand-like domain (1);	0.726139	0.12958	N	0.425264	T	0.77471	0.4135	M	0.72118	2.19	0.52501	D	0.999952	B	0.33940	0.433	B	0.43536	0.423	T	0.69892	-0.5022	10	0.09843	T	0.71	.	14.0628	0.64810	1.0:0.0:0.0:0.0	.	82	P28676	GRAN_HUMAN	L	108;63;82;63;63	ENSP00000393218:I108L;ENSP00000412899:I63L;ENSP00000394842:I82L;ENSP00000403805:I63L;ENSP00000233612:I63L	ENSP00000233612:I63L	I	+	1	0	GCA	162917145	1.000000	0.71417	1.000000	0.80357	0.797000	0.45037	6.473000	0.73572	1.951000	0.56629	0.528000	0.53228	ATT		0.308	GCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255080.3	NM_012198		C	163208899	A	C	163208899	3	2	775	1	0	0	0	0	1	0	0	0	6285	101	4	5	254	5	GCA	2	163208899	Missense_Mutation	SNP	A	TCGA-P4-A5EB-01A-11D-A28G-10	27464827	163208899	79990474	18	45752											
SPC25	57405	hgsc.bcm.edu	37	2	169746011	169746011	+	Missense_Mutation	SNP	C	C	G			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr2:169746011C>G	ENST00000282074.2	-	2	160	c.19G>C	c.(19-21)Gca>Cca	p.A7P	SPC25_ENST00000472216.2_5'UTR	NM_020675.3	NP_065726.1	Q9HBM1	SPC25_HUMAN	SPC25, NDC80 kinetochore complex component	7	Interaction with the N-terminus of SPBC24.|Interaction with the NDC80-NUF2 subcomplex.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)	condensed chromosome kinetochore (GO:0000777)|cytosol (GO:0005829)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	9						TCGAAAAGTGCCAGTTCGTCC	0.368																																																0													59	55	57					2																	169746011		2203	4300	6503	SO:0001583	missense	57405			AF225416	CCDS2229.1	2q31.1	2013-06-05	2013-06-05	2007-03-02	ENSG00000152253	ENSG00000152253			24031	protein-coding gene	gene with protein product		609395	"spindle pole body component 25 homolog (S. cerevisiae)", "SPC25, NDC80 kinetochore complex component, homolog (S. cerevisiae)"	SPBC25		12477932	Standard	NM_020675		Approved	MGC22228, AD024	uc002uel.3	Q9HBM1	OTTHUMG00000132181	ENST00000282074.2:c.19G>C	chr2.hg19:g.169746011C>G	ENSP00000282074:p.Ala7Pro		A8K4X8|D3DPC0	Missense_Mutation	SNP	ENST00000282074.2	hg19	CCDS2229.1	.	.	.	.	.	.	.	.	.	.	C	8.902	0.956561	0.18507	.	.	ENSG00000152253	ENST00000282074;ENST00000451987	.	.	.	6.16	3.38	0.38709	.	0.449522	0.26963	N	0.021614	T	0.18257	0.0438	L	0.27053	0.805	0.26399	N	0.976457	P	0.43169	0.8	B	0.37943	0.261	T	0.08330	-1.0727	9	0.46703	T	0.11	0.0356	6.4946	0.22136	0.0:0.693:0.1487:0.1583	.	7	Q9HBM1	SPC25_HUMAN	P	7	.	ENSP00000282074:A7P	A	-	1	0	SPC25	169454257	0.107000	0.21998	0.161000	0.22692	0.012000	0.07955	0.142000	0.16096	0.469000	0.27268	-0.142000	0.14014	GCA		0.368	SPC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255233.2	NM_020675		G	169746011	C	G	169746011	3	3	775	1	0	0	0	0	1	0	0	0	15027	739	26	4	679	4	SPC25	2	169746011	Missense_Mutation	SNP	C	TCGA-P4-A5EB-01A-11D-A28G-10	6537112	169746011	73453362	19	45753											
METTL5	29081	hgsc.bcm.edu	37	2	170677784	170677784	+	Splice_Site	SNP	C	C	A			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr2:170677784C>A	ENST00000260953.5	-	3	541		c.e3-1		METTL5_ENST00000410097.1_Splice_Site|METTL5_ENST00000409837.1_Splice_Site|METTL5_ENST00000409965.1_Splice_Site|METTL5_ENST00000308099.3_Splice_Site|METTL5_ENST00000409340.1_Intron|METTL5_ENST00000392640.2_Splice_Site	NM_014168.2	NP_054887.2	Q9NRN9	METL5_HUMAN	methyltransferase like 5								methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)			breast(2)|central_nervous_system(1)|large_intestine(5)|lung(1)|prostate(1)	10						AACACACAACCTATAAATACA	0.299																																																0													75	75	75					2																	170677784		2203	4298	6501	SO:0001630	splice_region_variant	29081			AF201938	CCDS33320.1	2q31.1	2011-01-28			ENSG00000138382	ENSG00000138382			25006	protein-coding gene	gene with protein product						11042152	Standard	XM_005246478		Approved	HSPC133	uc002ufn.3	Q9NRN9	OTTHUMG00000154117	ENST00000260953.5:c.225-1G>T	chr2.hg19:g.170677784C>A			D3DPC9|Q9NVX1	Splice_Site	SNP	ENST00000260953.5	hg19	CCDS33320.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.065087	0.76187	.	.	ENSG00000138382	ENST00000409837;ENST00000540464;ENST00000260953;ENST00000409965;ENST00000392640;ENST00000308099;ENST00000410097	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7542	0.91826	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	METTL5	170386030	1.000000	0.71417	0.932000	0.37286	0.983000	0.72400	7.590000	0.82653	2.490000	0.84030	0.655000	0.94253	.		0.299	METTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333957.1	NM_014168	Intron	A	170677784	C	A	170677784	5	1	775	1	0	0	0	0	0	0	1	0	9505	695	24	4	425	4	METTL5	2	170677784	Splice_Site	SNP	C	TCGA-P4-A5EB-01A-11D-A28G-10	931773	170677784	72521589	20	45754											
RAPH1	65059	hgsc.bcm.edu	37	2	204304774	204304775	+	Frame_Shift_Del	DEL	AC	AC	-	rs201752703		TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	AC	AC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr2:204304774_204304775delAC	ENST00000319170.5	-	14	3437_3438	c.3138_3139delGT	c.(3136-3141)gtgtcafs	p.S1047fs	RAPH1_ENST00000374493.3_Frame_Shift_Del_p.S1099fs|RAPH1_ENST00000457812.1_Intron|ABI2_ENST00000295851.5_3'UTR	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	1047					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						GCTTTTGCTGACACACACCCTT	0.545																																																0																																										SO:0001589	frameshift_variant	65059			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.3138_3139delGT	chr2.hg19:g.204304780_204304781delAC	ENSP00000316543:p.Ser1047fs		Q96Q37|Q9C0I2	Frame_Shift_Del	DEL	ENST00000319170.5	hg19	CCDS2359.1																																																																																				0.545	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256363.2	NM_025252		-	204304775	AC	-	204304774	7	5	775	1	0	1	0	1	0	0	0	0	13056	275	10	0	617	0	RAPH1	2	204304774	Frame_Shift_Del	DEL	AC	TCGA-P4-A5EB-01A-11D-A28G-10	33626990	204304774	38894599	21	45755											
NHEJ1	79840	hgsc.bcm.edu	37	2	220022946	220022946	+	Missense_Mutation	SNP	C	C	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr2:220022946C>T	ENST00000356853.5	-	2	272	c.139G>A	c.(139-141)Gaa>Aaa	p.E47K	NHEJ1_ENST00000409720.1_Missense_Mutation_p.E47K	NM_024782.2	NP_079058.1	Q9H9Q4	NHEJ1_HUMAN	nonhomologous end-joining factor 1	47	Globular head.				B cell differentiation (GO:0030183)|central nervous system development (GO:0007417)|DNA recombination (GO:0006310)|double-strand break repair via nonhomologous end joining (GO:0006303)|positive regulation of ligase activity (GO:0051351)|response to ionizing radiation (GO:0010212)|T cell differentiation (GO:0030217)	nonhomologous end joining complex (GO:0070419)|nucleus (GO:0005634)	DNA binding (GO:0003677)			kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	12		Renal(207;0.0915)		Epithelial(149;2.15e-06)|all cancers(144;0.000339)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0112)		TCCACCTGTTCATGCCACACC	0.527								Non-homologous end-joining																																								0													158	135	143					2																	220022946		2203	4300	6503	SO:0001583	missense	79840			AJ972687	CCDS2432.1	2q35	2014-09-17			ENSG00000187736	ENSG00000187736			25737	protein-coding gene	gene with protein product		611290				16439204, 16439205	Standard	NM_024782		Approved	Cernunnos, XLF, FLJ12610	uc002vjp.4	Q9H9Q4	OTTHUMG00000133127	ENST00000356853.5:c.139G>A	chr2.hg19:g.220022946C>T	ENSP00000349313:p.Glu47Lys		B8ZZA4|Q4ZFW7|Q6IA64|Q96JS9	Missense_Mutation	SNP	ENST00000356853.5	hg19	CCDS2432.1	.	.	.	.	.	.	.	.	.	.	C	34	5.320702	0.95682	.	.	ENSG00000187736	ENST00000409720;ENST00000356853;ENST00000457600	T;T;T	0.71698	-0.59;-0.59;-0.59	5.7	5.7	0.88788	DNA double-strand break repair and VJ recombination XRCC4, N-terminal (1);	0.000000	0.85682	U	0.000000	D	0.85414	0.5691	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86392	0.1736	10	0.87932	D	0	0.2919	19.8022	0.96513	0.0:1.0:0.0:0.0	.	47	Q9H9Q4	NHEJ1_HUMAN	K	47	ENSP00000387290:E47K;ENSP00000349313:E47K;ENSP00000407201:E47K	ENSP00000349313:E47K	E	-	1	0	NHEJ1	219731190	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	4.959000	0.63666	2.683000	0.91414	0.655000	0.94253	GAA		0.527	NHEJ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256817.2	NM_024782		T	220022946	C	T	220022946	3	4	775	1	0	0	0	0	1	0	0	0	10404	835	29	2	788	2	NHEJ1	2	220022946	Missense_Mutation	SNP	C	TCGA-P4-A5EB-01A-11D-A28G-10	15718172	220022946	23176427	22	45756											
SPEG	10290	hgsc.bcm.edu	37	2	220354060	220354064	+	Frame_Shift_Del	DEL	TCTTC	TCTTC	-	rs78622154	byFrequency	TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	TCTTC	TCTTC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr2:220354060_220354064delTCTTC	ENST00000312358.7	+	36	8452_8456	c.8320_8324delTCTTC	c.(8320-8325)tcttcafs	p.SS2774fs	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2774	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)		TCTCTTAGATTCTTCAGCTGTGCCA	0.62																																																0																																										SO:0001589	frameshift_variant	10290			BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"Immunoglobulin superfamily / I-set domain containing"	16901	protein-coding gene	gene with protein product		615950	"aortic preferentially expressed gene 1"	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.8320_8324delTCTTC	chr2.hg19:g.220354060_220354064delTCTTC	ENSP00000311684:p.Ser2774fs		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Frame_Shift_Del	DEL	ENST00000312358.7	hg19	CCDS42824.1																																																																																				0.62	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		-	220354064	TCTTC	-	220354060	7	5	775	1	0	1	0	1	0	0	0	0	15041	1783	62	0	8474	0	SPEG	2	220354060	Frame_Shift_Del	DEL	TCTTC	TCGA-P4-A5EB-01A-11D-A28G-10	331114	220354060	22845313	23	45757											
SETD5	55209	hgsc.bcm.edu	37	3	9475587	9475587	+	Missense_Mutation	SNP	A	A	G			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr3:9475587A>G	ENST00000406341.1	+	3	320	c.130A>G	c.(130-132)Aat>Gat	p.N44D	SETD5_ENST00000402466.1_5'UTR|SETD5_ENST00000407969.1_Missense_Mutation_p.N44D|SETD5_ENST00000402198.1_Missense_Mutation_p.N44D|SETD5_ENST00000302463.6_5'UTR			Q9C0A6	SETD5_HUMAN	SET domain containing 5	44										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)		TTCCACTCATAATTATGGGAC	0.468																																																0													204	200	201					3																	9475587		2010	4171	6181	SO:0001583	missense	55209			BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.130A>G	chr3.hg19:g.9475587A>G	ENSP00000383939:p.Asn44Asp		Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	ENST00000406341.1	hg19	CCDS46741.1	.	.	.	.	.	.	.	.	.	.	A	11.09	1.537828	0.27475	.	.	ENSG00000168137	ENST00000450326;ENST00000402198;ENST00000406341;ENST00000407969	T;D;D;D	0.90261	1.45;-2.64;-2.64;-2.59	6.07	6.07	0.98685	.	.	.	.	.	D	0.82986	0.5156	L	0.47716	1.5	0.80722	D	1	P	0.38922	0.651	B	0.30401	0.115	T	0.79579	-0.1745	9	0.11485	T	0.65	-13.9018	9.0586	0.36421	0.8937:0.0:0.1063:0.0	.	44	Q9C0A6	SETD5_HUMAN	D	44	ENSP00000413786:N44D;ENSP00000385852:N44D;ENSP00000383939:N44D;ENSP00000384114:N44D	ENSP00000385852:N44D	N	+	1	0	SETD5	9450587	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.856000	0.75450	2.330000	0.79161	0.477000	0.44152	AAT		0.468	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		G	9475587	A	G	9475587	3	3	775	1	0	0	0	0	1	0	0	0	14140	362	13	3	136	3	SETD5	3	9475587	Missense_Mutation	SNP	A	TCGA-P4-A5EB-01A-11D-A28G-10		9475587	188546843	24	45758											
DNAH1	25981	hgsc.bcm.edu	37	3	52428521	52428521	+	Missense_Mutation	SNP	T	T	C			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr3:52428521T>C	ENST00000420323.2	+	67	10928	c.10667T>C	c.(10666-10668)aTc>aCc	p.I3556T		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3621					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)		TCCATCTCGATCATGACTGAG	0.622																																																0													72	79	77					3																	52428521		2065	4195	6260	SO:0001583	missense	25981			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.10667T>C	chr3.hg19:g.52428521T>C	ENSP00000401514:p.Ile3556Thr		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	hg19	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	T	1.598	-0.527373	0.04141	.	.	ENSG00000114841	ENST00000420323;ENST00000273600	D	0.87103	-2.21	5.27	-5.01	0.02991	.	1.697270	0.03317	N	0.191372	T	0.70996	0.3288	N	0.12569	0.235	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.56721	-0.7932	10	0.33141	T	0.24	.	2.3064	0.04175	0.1418:0.4088:0.1794:0.27	.	3556;3621	C9JXH6;Q9P2D7-2	.;.	T	3556;309	ENSP00000401514:I3556T	ENSP00000273600:I309T	I	+	2	0	DNAH1	52403561	0.000000	0.05858	0.000000	0.03702	0.215000	0.24574	-0.451000	0.06795	-0.554000	0.06150	-0.274000	0.10170	ATC		0.622	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		C	52428521	T	C	52428521	3	2	775	1	0	0	0	0	1	0	0	0	4599	1435	50	3	10929	3	DNAH1	3	52428521	Missense_Mutation	SNP	T	TCGA-P4-A5EB-01A-11D-A28G-10	42952934	52428521	145593909	25	45759											
ABHD6	57406	hgsc.bcm.edu	37	3	58242370	58242370	+	Silent	SNP	A	A	T	rs11544005		TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr3:58242370A>T	ENST00000478253.1	+	3	558	c.57A>T	c.(55-57)ccA>ccT	p.P19P	ABHD6_ENST00000295962.4_Silent_p.P19P			Q9BV23	ABHD6_HUMAN	abhydrolase domain containing 6	19					long term synaptic depression (GO:0060292)|negative regulation of cell migration (GO:0030336)|regulation of endocannabinoid signaling pathway (GO:2000124)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acylglycerol lipase activity (GO:0047372)			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)		TGGCCATCCCAATCCTGGCAT	0.463																																																0													174	165	168					3																	58242370		2203	4300	6503	SO:0001819	synonymous_variant	57406			AF225418	CCDS2887.1	3p21.2	2006-03-10			ENSG00000163686	ENSG00000163686		"Abhydrolase domain containing"	21398	protein-coding gene	gene with protein product							Standard	NM_020676		Approved		uc003djs.4	Q9BV23	OTTHUMG00000159150	ENST00000478253.1:c.57A>T	chr3.hg19:g.58242370A>T			B2R7Y9|Q6ZMF7	Silent	SNP	ENST00000478253.1	hg19	CCDS2887.1																																																																																				0.463	ABHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353511.1	NM_020676		T	58242370	A	T	58242370	2	4	775	1	0	0	0	0	0	0	0	1	86	117	5	5		5	ABHD6	3	58242370	Silent	SNP	A	TCGA-P4-A5EB-01A-11D-A28G-10	5813849	58242370	139780060	26	45760											
CBLB	868	hgsc.bcm.edu	37	3	105572285	105572285	+	Missense_Mutation	SNP	C	C	A			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr3:105572285C>A	ENST00000264122.4	-	3	713	c.392G>T	c.(391-393)aGa>aTa	p.R131I	CBLB_ENST00000394027.3_Missense_Mutation_p.R153I|CBLB_ENST00000403724.1_Missense_Mutation_p.R131I|CBLB_ENST00000405772.1_Missense_Mutation_p.R131I|CBLB_ENST00000545639.1_Missense_Mutation_p.R153I	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	131	4H.|Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.				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						TTCATACATTCTCTCCTTGCC	0.343			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)		Rec	yes		3	3q13.11	868	Cas-Br-M (murine) ecotropic retroviral transforming sequence b		L	0													240	242	241					3																	105572285		2203	4300	6503	SO:0001583	missense	868			U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"RING-type (C3HC4) zinc fingers"	1542	protein-coding gene	gene with protein product		604491	"Cas-Br-M (murine) ectropic retroviral transforming sequence b", "Cas-Br-M (murine) ecotropic retroviral transforming sequence b"			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.392G>T	chr3.hg19:g.105572285C>A	ENSP00000264122:p.Arg131Ile		A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Missense_Mutation	SNP	ENST00000264122.4	hg19	CCDS2948.1	.	.	.	.	.	.	.	.	.	.	C	33	5.280158	0.95489	.	.	ENSG00000114423	ENST00000264122;ENST00000394027;ENST00000403724;ENST00000405772;ENST00000545639;ENST00000438603;ENST00000447441;ENST00000443752	T;T;T;T;T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16	5.69	5.69	0.88448	Adaptor protein Cbl, N-terminal helical (3);Adaptor protein Cbl, PTB domain (1);	0.000000	0.85682	D	0.000000	D	0.85991	0.5826	L	0.50333	1.59	0.80722	D	1	D;D;D	0.69078	0.997;0.997;0.997	D;D;D	0.74348	0.983;0.972;0.937	D	0.86563	0.1842	10	0.87932	D	0	-13.8454	19.8034	0.96518	0.0:1.0:0.0:0.0	.	153;131;131	E7ENW2;Q13191-3;Q13191	.;.;CBLB_HUMAN	I	131;153;131;131;153;153;131;131	ENSP00000264122:R131I;ENSP00000377595:R153I;ENSP00000384816:R131I;ENSP00000384938:R131I;ENSP00000446116:R153I;ENSP00000409750:R153I;ENSP00000400949:R131I;ENSP00000393906:R131I	ENSP00000264122:R131I	R	-	2	0	CBLB	107054975	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.603000	0.82811	2.669000	0.90835	0.655000	0.94253	AGA		0.343	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319417.2	NM_170662		A	105572285	C	A	105572285	3	1	775	1	0	0	0	0	1	0	0	0	2703	913	32	4	2624	4	CBLB	3	105572285	Missense_Mutation	SNP	C	TCGA-P4-A5EB-01A-11D-A28G-10	47329915	105572285	92450145	27	45761											
EAF2	55840	hgsc.bcm.edu	37	3	121554190	121554190	+	Missense_Mutation	SNP	G	G	A			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr3:121554190G>A	ENST00000273668.2	+	1	129	c.58G>A	c.(58-60)Ggg>Agg	p.G20R	EAF2_ENST00000465664.1_3'UTR|EAF2_ENST00000451944.2_Missense_Mutation_p.G20R|IQCB1_ENST00000310864.6_5'Flank|IQCB1_ENST00000349820.6_5'Flank	NM_018456.4	NP_060926.2	Q96CJ1	EAF2_HUMAN	ELL associated factor 2	20	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)		TCTCAAGTTAGGGGAGAGTTT	0.592																																					Esophageal Squamous(194;1942 2097 24663 29345 31866)											0													60	57	58					3																	121554190		2203	4300	6503	SO:0001583	missense	55840			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.58G>A	chr3.hg19:g.121554190G>A	ENSP00000273668:p.Gly20Arg		Q9NZ82	Missense_Mutation	SNP	ENST00000273668.2	hg19	CCDS3006.1	.	.	.	.	.	.	.	.	.	.	G	36	5.612769	0.96637	.	.	ENSG00000145088	ENST00000273668;ENST00000451944	.	.	.	5.95	5.95	0.96441	Transcription elognation factor  Eaf, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.84238	0.5428	M	0.85945	2.785	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.85853	0.1405	9	0.87932	D	0	-12.3041	17.8686	0.88804	0.0:0.0:1.0:0.0	.	20	Q96CJ1	EAF2_HUMAN	R	20	.	ENSP00000273668:G20R	G	+	1	0	EAF2	123036880	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.606000	0.82863	2.817000	0.96982	0.563000	0.77884	GGG		0.592	EAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355247.1	NM_018456		A	121554190	G	A	121554190	3	1	775	1	0	0	0	0	1	0	0	0	4878	1000	35	2	60	2	EAF2	3	121554190	Missense_Mutation	SNP	G	TCGA-P4-A5EB-01A-11D-A28G-10	15981905	121554190	76468240	28	45762											
PARP14	54625	hgsc.bcm.edu	37	3	122436993	122436993	+	Nonsense_Mutation	SNP	C	C	G			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr3:122436993C>G	ENST00000474629.2	+	13	4342	c.4076C>G	c.(4075-4077)tCa>tGa	p.S1359*		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1359	Macro 3. {ECO:0000255|PROSITE- ProRule:PRU00490}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		CAGAAAGGATCAGCCCAGTCT	0.388																																																0													88	82	84					3																	122436993		1860	4108	5968	SO:0001587	stop_gained	54625			AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"Poly (ADP-ribose) polymerases"	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.4076C>G	chr3.hg19:g.122436993C>G	ENSP00000418194:p.Ser1359*		B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Nonsense_Mutation	SNP	ENST00000474629.2	hg19	CCDS46894.1	.	.	.	.	.	.	.	.	.	.	C	40	8.082615	0.98646	.	.	ENSG00000173193	ENST00000474629;ENST00000398162;ENST00000398157	.	.	.	5.28	-1.14	0.09741	.	1.436610	0.04490	N	0.379296	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	5.3252	0.15903	0.1259:0.4927:0.0:0.3814	.	.	.	.	X	1359;1278;355	.	ENSP00000381224:S355X	S	+	2	0	PARP14	123919683	0.000000	0.05858	0.000000	0.03702	0.971000	0.66376	0.777000	0.26718	-0.442000	0.07190	0.650000	0.86243	TCA		0.388	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554		G	122436993	C	G	122436993	4	3	775	1	0	0	0	0	0	1	0	0	11460	838	29	4	4126	4	PARP14	3	122436993	Nonsense_Mutation	SNP	C	TCGA-P4-A5EB-01A-11D-A28G-10	882803	122436993	75585437	29	45763											
RBP2	5948	hgsc.bcm.edu	37	3	139195286	139195286	+	Missense_Mutation	SNP	T	T	A			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr3:139195286T>A	ENST00000232217.2	-	1	72	c.16A>T	c.(16-18)Aat>Tat	p.N6Y	RP11-319G6.1_ENST00000515247.1_RNA	NM_004164.2	NP_004155.2	P50120	RET2_HUMAN	retinol binding protein 2, cellular	6					epidermis development (GO:0008544)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|vitamin A metabolic process (GO:0006776)	cytosol (GO:0005829)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|transporter activity (GO:0005215)			breast(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12					Vitamin A(DB00162)	CAGGTTCCATTCTGGTCCCTT	0.537																																																0													154	132	139					3																	139195286		2203	4300	6503	SO:0001583	missense	5948			U13831	CCDS3109.1	3q23	2013-03-01	2001-11-28		ENSG00000114113	ENSG00000114113		"Fatty acid binding protein family"	9920	protein-coding gene	gene with protein product		180280	"retinol-binding protein 2, cellular"			7657783, 10072590	Standard	NM_004164		Approved	CRBP2, RBPC2, CRBPII, CRABP-II	uc003eth.3	P50120	OTTHUMG00000159956	ENST00000232217.2:c.16A>T	chr3.hg19:g.139195286T>A	ENSP00000232217:p.Asn6Tyr		A8K7G3|Q6ISQ9|Q6ISS7	Missense_Mutation	SNP	ENST00000232217.2	hg19	CCDS3109.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.138577	0.77775	.	.	ENSG00000114113	ENST00000232217;ENST00000511956;ENST00000506825	T;T	0.08102	3.13;3.13	5.44	5.44	0.79542	Calycin-like (1);Cytosolic fatty-acid binding (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.550372	0.21049	N	0.081028	T	0.17023	0.0409	L	0.29908	0.895	0.54753	D	0.999987	D	0.76494	0.999	D	0.68039	0.955	T	0.01666	-1.1300	10	0.44086	T	0.13	.	13.5403	0.61671	0.0:0.0:0.0:1.0	.	6	P50120	RET2_HUMAN	Y	6	ENSP00000232217:N6Y;ENSP00000424333:N6Y	ENSP00000232217:N6Y	N	-	1	0	RBP2	140677976	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	3.604000	0.54081	2.194000	0.70268	0.460000	0.39030	AAT		0.537	RBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358490.1	NM_004164		A	139195286	T	A	139195286	3	1	775	1	0	0	0	0	1	0	0	0	13162	1783	62	5	404	5	RBP2	3	139195286	Missense_Mutation	SNP	T	TCGA-P4-A5EB-01A-11D-A28G-10	16758293	139195286	58827144	30	45764											
ZBTB38	253461	hgsc.bcm.edu	37	3	141162052	141162058	+	Frame_Shift_Del	DEL	TTCGGAT	TTCGGAT	-	rs549239683		TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	TTCGGAT	TTCGGAT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr3:141162052_141162058delTTCGGAT	ENST00000514251.1	+	4	1101_1107	c.822_828delTTCGGAT	c.(820-828)gattcggatfs	p.DSD274fs	ZBTB38_ENST00000441582.2_Frame_Shift_Del_p.DSD274fs|ZBTB38_ENST00000321464.5_Frame_Shift_Del_p.DSD275fs					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						TACCACAGGATTCGGATTCAGCCACAG	0.459																																																0																																										SO:0001589	frameshift_variant	253461			BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	26636	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 171"	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.822_828delTTCGGAT	chr3.hg19:g.141162052_141162058delTTCGGAT	ENSP00000426387:p.Asp274fs			Frame_Shift_Del	DEL	ENST00000514251.1	hg19	CCDS43157.1																																																																																				0.459	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2			-	141162058	TTCGGAT	-	141162052	7	5	775	1	0	1	0	1	0	0	0	0	17544	1490	52	0	824	0	ZBTB38	3	141162052	Frame_Shift_Del	DEL	TTCGGAT	TCGA-P4-A5EB-01A-11D-A28G-10	1966766	141162052	56860378	31	45765											
HPS3	84343	hgsc.bcm.edu	37	3	148857880	148857881	+	Frame_Shift_Ins	INS	-	-	GT	rs541164156		TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr3:148857880_148857881insGT	ENST00000296051.2	+	2	447_448	c.307_308insGT	c.(307-309)cgtfs	p.R103fs	HPS3_ENST00000460120.1_Intron	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	103					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)		p.R103S(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TGAAAACTCTCGTGTGTGTATC	0.426									Hermansky-Pudlak syndrome																																							1	Substitution - Missense(1)	lung(1)																																								SO:0001589	frameshift_variant	84343	Familial Cancer Database	HPS, HPS1-8	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.314_315dupGT	chr3.hg19:g.148857887_148857888dupGT	ENSP00000296051:p.Arg103fs		A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Frame_Shift_Ins	INS	ENST00000296051.2	hg19	CCDS3140.1																																																																																				0.426	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1	NM_032383		GT	148857881	-	GT	148857880	7	5	775	1	0	1	1	0	0	0	0	0	7342	884	31	0	313	0	HPS3	3	148857880	Frame_Shift_Ins	INS	-	TCGA-P4-A5EB-01A-11D-A28G-10	7695828	148857880	49164550	32	45766											
PLD1	5337	hgsc.bcm.edu	37	3	171395429	171395429	+	Silent	SNP	G	G	A			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr3:171395429G>A	ENST00000351298.4	-	17	2049	c.1923C>T	c.(1921-1923)acC>acT	p.T641T	PLD1_ENST00000356327.5_Silent_p.T603T|PLD1_ENST00000340989.4_Silent_p.T641T|PLD1_ENST00000342215.6_Missense_Mutation_p.P532L	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	641	Catalytic.				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)	GCCAGAATCTGGTTTCCCCAT	0.498																																					NSCLC(149;2174 3517 34058)											0													169	150	157					3																	171395429		2203	4300	6503	SO:0001819	synonymous_variant	5337			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.1923C>T	chr3.hg19:g.171395429G>A				Silent	SNP	ENST00000351298.4	hg19	CCDS3216.1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.196234	0.38806	.	.	ENSG00000075651	ENST00000342215	T	0.34072	1.38	6.16	0.406	0.16366	.	.	.	.	.	T	0.25827	0.0629	.	.	.	0.30550	N	0.765587	.	.	.	.	.	.	T	0.31110	-0.9955	6	0.27785	T	0.31	-24.3912	4.8638	0.13598	0.1371:0.3306:0.4295:0.1029	.	.	.	.	L	532	ENSP00000339936:P532L	ENSP00000339936:P532L	P	-	2	0	PLD1	172878123	0.948000	0.32251	0.748000	0.31131	0.981000	0.71138	0.123000	0.15708	0.117000	0.18138	0.650000	0.86243	CCA		0.498	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662		A	171395429	G	A	171395429	2	1	775	1	0	0	0	0	0	0	0	1	12047	1335	47	2		2	PLD1	3	171395429	Silent	SNP	G	TCGA-P4-A5EB-01A-11D-A28G-10	22537549	171395429	26627001	33	45767											
RFC4	5984	hgsc.bcm.edu	37	3	186508173	186508173	+	Missense_Mutation	SNP	T	T	A			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr3:186508173T>A	ENST00000392481.2	-	9	1105	c.824A>T	c.(823-825)gAt>gTt	p.D275V	RFC4_ENST00000296273.2_Missense_Mutation_p.D275V|RFC4_ENST00000433496.1_Intron|SNORA63_ENST00000363450.1_RNA|SNORA4_ENST00000584302.1_RNA	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	275					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.D275G(1)		breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		AAATACTCCATCAATTTTCTC	0.428																																																1	Substitution - Missense(1)	kidney(1)											112	112	112					3																	186508173		2203	4300	6503	SO:0001583	missense	5984				CCDS3283.1	3q27	2010-04-21	2002-08-29		ENSG00000163918	ENSG00000163918		"ATPases / AAA-type"	9972	protein-coding gene	gene with protein product	"A1 37 kDa subunit", "activator 1 37 kDa subunit", "RFC 37 kDa subunit"	102577	"replication factor C (activator 1) 4 (37kD)"			7774928	Standard	NM_181573		Approved	A1, RFC37	uc003fqz.3	P35249	OTTHUMG00000156515	ENST00000392481.2:c.824A>T	chr3.hg19:g.186508173T>A	ENSP00000376272:p.Asp275Val		B4DM41|D3DNV2|Q6FHX7	Missense_Mutation	SNP	ENST00000392481.2	hg19	CCDS3283.1	.	.	.	.	.	.	.	.	.	.	T	11.55	1.670832	0.29693	.	.	ENSG00000163918	ENST00000392481;ENST00000296273;ENST00000417876	T;T;T	0.44083	0.93;0.93;0.93	5.32	2.79	0.32731	Replication factor C (1);DNA polymerase III, clamp loader complex, gamma/delta/delta subunit, C-terminal (1);	0.428568	0.30538	N	0.009405	T	0.44808	0.1311	M	0.84326	2.69	0.80722	D	1	B	0.18013	0.025	B	0.27887	0.084	T	0.46373	-0.9196	10	0.54805	T	0.06	.	6.9715	0.24652	0.0:0.0842:0.1493:0.7664	.	275	P35249	RFC4_HUMAN	V	275;275;50	ENSP00000376272:D275V;ENSP00000296273:D275V;ENSP00000401429:D50V	ENSP00000296273:D275V	D	-	2	0	RFC4	187990867	0.999000	0.42202	0.697000	0.30258	0.437000	0.31866	2.471000	0.45127	0.970000	0.38263	0.459000	0.35465	GAT		0.428	RFC4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344471.1	NM_002916		A	186508173	T	A	186508173	3	1	775	1	0	0	0	0	1	0	0	0	13253	1435	50	5	279	5	RFC4	3	186508173	Missense_Mutation	SNP	T	TCGA-P4-A5EB-01A-11D-A28G-10	15112744	186508173	11514257	34	45768											
HTT	3064	hgsc.bcm.edu	37	4	3162057	3162057	+	Missense_Mutation	SNP	C	C	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr4:3162057C>T	ENST00000355072.5	+	29	3947	c.3802C>T	c.(3802-3804)Cgc>Tgc	p.R1268C		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1268					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)		AGGGTTTCTCCGCTCAGCCTT	0.512																																																0																																										SO:0001583	missense	3064			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.3802C>T	chr4.hg19:g.3162057C>T	ENSP00000347184:p.Arg1268Cys		Q9UQB7	Missense_Mutation	SNP	ENST00000355072.5	hg19	CCDS43206.1	.	.	.	.	.	.	.	.	.	.	C	11.56	1.674542	0.29693	.	.	ENSG00000197386	ENST00000355072	T	0.65916	-0.18	4.27	4.27	0.50696	.	0.000000	0.85682	D	0.000000	T	0.57740	0.2074	L	0.52364	1.645	0.80722	D	1	B	0.18166	0.026	B	0.11329	0.006	T	0.57946	-0.7723	10	0.44086	T	0.13	.	16.6252	0.84968	0.0:1.0:0.0:0.0	.	1268	P42858	HD_HUMAN	C	1268	ENSP00000347184:R1268C	ENSP00000347184:R1268C	R	+	1	0	HTT	3131855	1.000000	0.71417	1.000000	0.80357	0.221000	0.24807	4.125000	0.57931	2.069000	0.61940	0.563000	0.77884	CGC		0.512	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		T	3162057	C	T	3162057	3	4	775	1	0	0	0	0	1	0	0	0	7459	652	23	1	3916	1	HTT	4	3162057	Missense_Mutation	SNP	C	TCGA-P4-A5EB-01A-11D-A28G-10		3162057	187992219	35	45769											
PI4K2B	55300	hgsc.bcm.edu	37	4	25235821	25235821	+	Silent	SNP	C	C	A			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr4:25235821C>A	ENST00000264864.6	+	1	225	c.36C>A	c.(34-36)tcC>tcA	p.S12S	PI4K2B_ENST00000512921.1_Intron	NM_018323.3	NP_060793.2	Q8TCG2	P4K2B_HUMAN	phosphatidylinositol 4-kinase type 2 beta	12					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3)	15		Breast(46;0.173)				GGTTGGCGTCCGCGGACGGCG	0.731																																																0													3	3	3					4																	25235821		1446	3354	4800	SO:0001819	synonymous_variant	55300			AK001967	CCDS3433.1	4p15.31	2009-05-07			ENSG00000038210	ENSG00000038210			18215	protein-coding gene	gene with protein product		612101				11923287	Standard	NM_018323		Approved	PI4KIIB, FLJ11105, PIK42B	uc003grk.2	Q8TCG2	OTTHUMG00000128564	ENST00000264864.6:c.36C>A	chr4.hg19:g.25235821C>A			Q9NUW2	Silent	SNP	ENST00000264864.6	hg19	CCDS3433.1																																																																																				0.731	PI4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250415.1	NM_018323		A	25235821	C	A	25235821	2	1	775	1	0	0	0	0	0	0	0	1	11874	639	23	4		4	PI4K2B	4	25235821	Silent	SNP	C	TCGA-P4-A5EB-01A-11D-A28G-10	22073764	25235821	165918455	36	45770											
ARAP2	116984	hgsc.bcm.edu	37	4	36152575	36152575	+	Silent	SNP	G	G	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr4:36152575G>T	ENST00000303965.4	-	16	3333	c.2844C>A	c.(2842-2844)atC>atA	p.I948I		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	948	PH 3. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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						TAACTTCATTGATATTAATGG	0.343																																																0													169	174	172					4																	36152575		2203	4298	6501	SO:0001819	synonymous_variant	116984			AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16924	protein-coding gene	gene with protein product		606645	"centaurin, delta 1"	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.2844C>A	chr4.hg19:g.36152575G>T			Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Silent	SNP	ENST00000303965.4	hg19	CCDS3441.1																																																																																				0.343	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230		T	36152575	G	T	36152575	2	4	775	1	0	0	0	0	0	0	0	1	839	1280	45	4		4	ARAP2	4	36152575	Silent	SNP	G	TCGA-P4-A5EB-01A-11D-A28G-10	10916754	36152575	155001701	37	45771											
RCHY1	25898	hgsc.bcm.edu	37	4	76416940	76416940	+	Frame_Shift_Del	DEL	A	A	-			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr4:76416940delA	ENST00000324439.5	-	6	901	c.503delT	c.(502-504)ttafs	p.L168fs	RCHY1_ENST00000380840.2_Frame_Shift_Del_p.L128fs|RCHY1_ENST00000512706.1_Frame_Shift_Del_p.L146fs|RCHY1_ENST00000451788.1_Frame_Shift_Del_p.L168fs|RCHY1_ENST00000513257.1_Frame_Shift_Del_p.L168fs|RCHY1_ENST00000514021.1_5'Flank	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	168					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)			TTACCTATGTAAAAGATGTCC	0.308																																																0													59	59	59					4																	76416940		2203	4297	6500	SO:0001589	frameshift_variant	25898			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.503delT	chr4.hg19:g.76416940delA	ENSP00000321239:p.Leu168fs		B3KRG3|C7E541|C7E542|C7E543|D3YRV2|E7EMC8|E7ETW5|J3KPI0|Q2KN33|Q59GN7|Q86X26|Q96PR5	Frame_Shift_Del	DEL	ENST00000324439.5	hg19	CCDS3567.1																																																																																				0.308	RCHY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252411.2	NM_015436		-	76416940	A	-	76416940	7	5	775	1	0	1	0	1	0	0	0	0	13183	372	13	0	298	0	RCHY1	4	76416940	Frame_Shift_Del	DEL	A	TCGA-P4-A5EB-01A-11D-A28G-10	40264365	76416940	114737336	38	45772											
SYNPO2	171024	hgsc.bcm.edu	37	4	119952707	119952707	+	Missense_Mutation	SNP	A	A	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr4:119952707A>T	ENST00000429713.2	+	4	2959	c.2777A>T	c.(2776-2778)aAt>aTt	p.N926I	SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000434046.2_Missense_Mutation_p.N926I|SYNPO2_ENST00000307142.4_Missense_Mutation_p.N926I	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	926						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						GTGGCCTATAATCCTATCCAC	0.572																																																0													87	83	84					4																	119952707		2203	4300	6503	SO:0001583	missense	171024			AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.2777A>T	chr4.hg19:g.119952707A>T	ENSP00000395143:p.Asn926Ile		B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Missense_Mutation	SNP	ENST00000429713.2	hg19	CCDS47129.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.9|20.9	4.067512|4.067512	0.76301|0.76301	.|.	.|.	ENSG00000172403|ENSG00000172403	ENST00000307142;ENST00000429713;ENST00000434046|ENST00000504178	T;T;T|.	0.14893|.	2.47;2.58;2.47|.	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	0.000000|.	0.64402|.	D|.	0.000002|.	T|.	0.77239|.	0.4101|.	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;0.999;0.997|.	D;D;D;D|.	0.91635|.	0.998;0.999;0.997;0.972|.	T|.	0.78874|.	-0.2032|.	9|.	.|.	.|.	.|.	-24.3416|-24.3416	15.8861|15.8861	0.79251|0.79251	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	926;926;926;926|.	B9EG60;Q9UMS6-2;E9PEM2;Q9UMS6|.	.;.;.;SYNP2_HUMAN|.	I|Y	926|877	ENSP00000306015:N926I;ENSP00000395143:N926I;ENSP00000390965:N926I|.	.|.	N|X	+|+	2|3	0|2	SYNPO2|SYNPO2	120172155|120172155	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.914000|0.914000	0.54420|0.54420	9.339000|9.339000	0.96797|0.96797	2.156000|2.156000	0.67533|0.67533	0.533000|0.533000	0.62120|0.62120	AAT|TAA		0.572	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364020.1			T	119952707	A	T	119952707	3	4	775	1	0	0	0	0	1	0	0	0	15462	101	4	5	2791	5	SYNPO2	4	119952707	Missense_Mutation	SNP	A	TCGA-P4-A5EB-01A-11D-A28G-10	43535767	119952707	71201569	39	45773											
SMAD1	4086	hgsc.bcm.edu	37	4	146463798	146463798	+	Silent	SNP	G	G	A			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr4:146463798G>A	ENST00000515385.1	+	4	1265	c.723G>A	c.(721-723)ccG>ccA	p.P241P	SMAD1_ENST00000302085.4_Silent_p.P241P|SMAD1_ENST00000394092.2_Silent_p.P241P			Q15797	SMAD1_HUMAN	SMAD family member 1	241					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)					GCTCTCAGCCGATGGACACAA	0.473																																					Pancreas(182;1287 2092 10326 35158 50562)											0													65	68	67					4																	146463798		2203	4300	6503	SO:0001819	synonymous_variant	4086			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.723G>A	chr4.hg19:g.146463798G>A			A8KAJ0|D3DNZ9|Q16636|Q9UFT8	Silent	SNP	ENST00000515385.1	hg19	CCDS3765.1																																																																																				0.473	SMAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365467.1	NM_005900		A	146463798	G	A	146463798	2	1	775	1	0	0	0	0	0	0	0	1	14763	1045	37	1		1	SMAD1	4	146463798	Silent	SNP	G	TCGA-P4-A5EB-01A-11D-A28G-10	26511091	146463798	44690478	40	45774											
IQGAP2	10788	hgsc.bcm.edu	37	5	75888702	75888702	+	Missense_Mutation	SNP	G	G	A			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr5:75888702G>A	ENST00000274364.6	+	9	1156	c.859G>A	c.(859-861)Gaa>Aaa	p.E287K	IQGAP2_ENST00000379730.3_5'UTR	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	287					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)		TGCTTATGAAGAACTGCTGAC	0.323																																																0													138	145	142					5																	75888702		2203	4300	6503	SO:0001583	missense	10788			U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.859G>A	chr5.hg19:g.75888702G>A	ENSP00000274364:p.Glu287Lys		A8K4V1|B7Z8A4|J3KR91	Missense_Mutation	SNP	ENST00000274364.6	hg19	CCDS34188.1	.	.	.	.	.	.	.	.	.	.	G	32	5.141279	0.94560	.	.	ENSG00000145703	ENST00000274364;ENST00000514350;ENST00000505766	T;T;T	0.39787	4.12;1.06;4.13	5.83	5.83	0.93111	.	0.100666	0.64402	D	0.000002	T	0.54287	0.1849	M	0.80616	2.505	0.80722	D	1	P	0.42483	0.781	P	0.44732	0.459	T	0.50988	-0.8762	10	0.21540	T	0.41	-17.3562	20.1863	0.98216	0.0:0.0:1.0:0.0	.	287	Q13576	IQGA2_HUMAN	K	287;260;237	ENSP00000274364:E287K;ENSP00000423672:E260K;ENSP00000421097:E237K	ENSP00000274364:E287K	E	+	1	0	IQGAP2	75924458	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	9.798000	0.99111	2.781000	0.95711	0.650000	0.86243	GAA		0.323	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633		A	75888702	G	A	75888702	3	1	775	1	0	0	0	0	1	0	0	0	7817	943	33	2	893	2	IQGAP2	5	75888702	Missense_Mutation	SNP	G	TCGA-P4-A5EB-01A-11D-A28G-10		75888702	105026558	41	45775	489	2									
IQGAP2	10788	hgsc.bcm.edu	37	5	75888710	75888710	+	Silent	SNP	G	G	A			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr5:75888710G>A	ENST00000274364.6	+	9	1164	c.867G>A	c.(865-867)ctG>ctA	p.L289L	IQGAP2_ENST00000379730.3_5'UTR	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	289					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)		AAGAACTGCTGACACAAGCAG	0.333																																																0													145	152	149					5																	75888710		2203	4300	6503	SO:0001819	synonymous_variant	10788			U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.867G>A	chr5.hg19:g.75888710G>A			A8K4V1|B7Z8A4|J3KR91	Silent	SNP	ENST00000274364.6	hg19	CCDS34188.1																																																																																				0.333	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633		A	75888710	G	A	75888710	2	1	775	1	0	0	0	0	0	0	0	1	7817	1277	45	2		2	IQGAP2	5	75888710	Silent	SNP	G	TCGA-P4-A5EB-01A-11D-A28G-10	8	75888710	105026550	42	45776	489	2									
IQGAP2	10788	hgsc.bcm.edu	37	5	75973147	75973147	+	Missense_Mutation	SNP	C	C	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr5:75973147C>T	ENST00000274364.6	+	28	3929	c.3632C>T	c.(3631-3633)tCa>tTa	p.S1211L	IQGAP2_ENST00000502745.1_Missense_Mutation_p.S707L|IQGAP2_ENST00000396234.3_Missense_Mutation_p.S707L|IQGAP2_ENST00000379730.3_Missense_Mutation_p.S713L	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1211					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)		ATTTATATTTCAATTGAAGAA	0.393																																																0													65	66	65					5																	75973147		2203	4300	6503	SO:0001583	missense	10788			U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.3632C>T	chr5.hg19:g.75973147C>T	ENSP00000274364:p.Ser1211Leu		A8K4V1|B7Z8A4|J3KR91	Missense_Mutation	SNP	ENST00000274364.6	hg19	CCDS34188.1	.	.	.	.	.	.	.	.	.	.	C	32	5.108409	0.94292	.	.	ENSG00000145703	ENST00000274364;ENST00000379730;ENST00000505766;ENST00000396234;ENST00000502745	T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59	4.98	4.98	0.66077	Rho GTPase activation protein (1);Ras GTPase-activating protein (1);	0.329934	0.33144	N	0.005221	T	0.73094	0.3543	M	0.84326	2.69	0.80722	D	1	D;D;P	0.65815	0.995;0.995;0.792	P;P;B	0.60609	0.877;0.877;0.322	T	0.77910	-0.2411	10	0.72032	D	0.01	-12.9253	18.4229	0.90597	0.0:1.0:0.0:0.0	.	713;707;1211	F5H7S7;Q13576-2;Q13576	.;.;IQGA2_HUMAN	L	1211;713;1161;707;707	ENSP00000274364:S1211L;ENSP00000442313:S713L;ENSP00000421097:S1161L;ENSP00000379535:S707L;ENSP00000426027:S707L	ENSP00000274364:S1211L	S	+	2	0	IQGAP2	76008903	1.000000	0.71417	0.991000	0.47740	0.986000	0.74619	7.557000	0.82243	2.597000	0.87782	0.591000	0.81541	TCA		0.393	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633		T	75973147	C	T	75973147	3	4	775	1	0	0	0	0	1	0	0	0	7817	838	29	2	3742	2	IQGAP2	5	75973147	Missense_Mutation	SNP	C	TCGA-P4-A5EB-01A-11D-A28G-10	84437	75973147	104942113	43	45777											
FNIP1	96459	hgsc.bcm.edu	37	5	131007961	131007961	+	Missense_Mutation	SNP	C	C	T	rs367969091		TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr5:131007961C>T	ENST00000510461.1	-	14	2271	c.2176G>A	c.(2176-2178)Gga>Aga	p.G726R	FNIP1_ENST00000307954.8_Missense_Mutation_p.G681R|CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000307968.7_Missense_Mutation_p.G698R	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	726					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)		ACAACCATTCCTGTGGATCTC	0.448																																																0								C	ARG/GLY,ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	218	207	211		2092,2176	4.9	1	5		211	0,8600		0,0,4300	no	missense,missense	FNIP1	NM_001008738.2,NM_133372.2	125,125	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	698/1139,726/1167	131007961	1,13005	2203	4300	6503	SO:0001583	missense	96459			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.2176G>A	chr5.hg19:g.131007961C>T	ENSP00000421985:p.Gly726Arg		D6RJH5|Q86T47|Q9BUT0	Missense_Mutation	SNP	ENST00000510461.1	hg19	CCDS34227.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.212357	0.58452	2.27E-4	0.0	ENSG00000217128	ENST00000307968;ENST00000307954;ENST00000544351;ENST00000510461	T;T;T	0.42131	0.98;0.98;0.98	5.76	4.89	0.63831	.	.	.	.	.	T	0.45538	0.1347	L	0.43152	1.355	0.80722	D	1	P;P;P	0.46512	0.879;0.879;0.773	P;P;B	0.50708	0.648;0.494;0.414	T	0.31420	-0.9944	9	0.49607	T	0.09	-8.8964	12.306	0.54902	0.0:0.8667:0.0:0.1333	.	726;698;726	A8K8V8;Q8TF40-3;Q8TF40	.;.;FNIP1_HUMAN	R	698;681;478;726	ENSP00000309266:G698R;ENSP00000310453:G681R;ENSP00000421985:G726R	ENSP00000310453:G681R	G	-	1	0	FNIP1	131035860	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.191000	0.58372	2.726000	0.93360	0.655000	0.94253	GGA		0.448	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370077.1	NM_133372		T	131007961	C	T	131007961	3	4	775	1	0	0	0	0	1	0	0	0	5977	690	24	2	1344	2	FNIP1	5	131007961	Missense_Mutation	SNP	C	TCGA-P4-A5EB-01A-11D-A28G-10	55034814	131007961	49907299	44	45778											
NSD1	64324	hgsc.bcm.edu	37	5	176721020	176721020	+	Missense_Mutation	SNP	G	G	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr5:176721020G>T	ENST00000439151.2	+	23	6696	c.6651G>T	c.(6649-6651)gaG>gaT	p.E2217D	NSD1_ENST00000354179.4_Missense_Mutation_p.E1948D|NSD1_ENST00000361032.4_Missense_Mutation_p.E2114D|NSD1_ENST00000347982.4_Missense_Mutation_p.E1948D	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2217	Pro-rich.				gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AACCTGGGGAGATCCGTGAGT	0.562			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																													Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													81	80	81					5																	176721020		2203	4300	6503	SO:0001583	missense	64324	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.6651G>T	chr5.hg19:g.176721020G>T	ENSP00000395929:p.Glu2217Asp		Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	hg19	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	G	19.51	3.840800	0.71488	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000002	D	0.84419	0.5468	L	0.27053	0.805	0.53688	D	0.999975	D;D	0.76494	0.999;0.999	D;D	0.71870	0.975;0.933	D	0.84097	0.0393	10	0.51188	T	0.08	.	11.9775	0.53100	0.1325:0.0:0.8675:0.0	.	1948;2217	Q96L73-2;Q96L73	.;NSD1_HUMAN	D	1948;2217;1948;2114	ENSP00000346111:E1948D;ENSP00000395929:E2217D;ENSP00000343209:E1948D;ENSP00000354310:E2114D	ENSP00000343209:E1948D	E	+	3	2	NSD1	176653626	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.583000	0.53928	2.941000	0.99782	0.655000	0.94253	GAG		0.562	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		T	176721020	G	T	176721020	3	4	775	1	0	0	0	0	1	0	0	0	10671	933	33	4	6737	4	NSD1	5	176721020	Missense_Mutation	SNP	G	TCGA-P4-A5EB-01A-11D-A28G-10	45713059	176721020	4194240	45	45779											
CLK4	57396	hgsc.bcm.edu	37	5	178050363	178050363	+	Nonsense_Mutation	SNP	C	C	A			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr5:178050363C>A	ENST00000316308.4	-	2	223	c.55G>T	c.(55-57)Gga>Tga	p.G19*	CLK4_ENST00000520957.1_Nonsense_Mutation_p.G19*	NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	19					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)		CTTTCATGTCCCCAGCTTTCT	0.438																																																0													207	181	190					5																	178050363		2203	4300	6503	SO:0001587	stop_gained	57396			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.55G>T	chr5.hg19:g.178050363C>A	ENSP00000316948:p.Gly19*			Nonsense_Mutation	SNP	ENST00000316308.4	hg19	CCDS4437.1	.	.	.	.	.	.	.	.	.	.	C	38	7.083910	0.98051	.	.	ENSG00000113240	ENST00000316308;ENST00000536763;ENST00000520957	.	.	.	5.83	4.97	0.65823	.	0.325167	0.32548	N	0.005960	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	10.8916	0.46998	0.0:0.9136:0.0:0.0864	.	.	.	.	X	19	.	ENSP00000316948:G19X	G	-	1	0	CLK4	177982969	0.989000	0.36119	0.999000	0.59377	0.962000	0.63368	2.363000	0.44178	1.477000	0.48234	0.491000	0.48974	GGA		0.438	CLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253479.2			A	178050363	C	A	178050363	4	1	775	1	0	0	0	0	0	1	0	0	3541	632	22	4	1438	4	CLK4	5	178050363	Nonsense_Mutation	SNP	C	TCGA-P4-A5EB-01A-11D-A28G-10	1329343	178050363	2864897	46	45780											
ZSCAN23	222696	hgsc.bcm.edu	37	6	28402345	28402345	+	Missense_Mutation	SNP	G	G	A			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr6:28402345G>A	ENST00000289788.4	-	4	1212	c.1067C>T	c.(1066-1068)aCt>aTt	p.T356I	ZSCAN23_ENST00000486481.1_5'Flank	NM_001012455.1	NP_001012458.1	Q3MJ62	ZSC23_HUMAN	zinc finger and SCAN domain containing 23	356					transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|prostate(1)|stomach(2)	4						TCTCTCTCCAGTGTGAATTCT	0.448																																																0													158	136	142					6																	28402345		692	1591	2283	SO:0001583	missense	222696			AK092117	CCDS47393.1	6p21.33	2013-01-08	2007-02-20	2007-02-20	ENSG00000187987	ENSG00000187987		"-", "Zinc fingers, C2H2-type"	21193	protein-coding gene	gene with protein product			"zinc finger protein 453", "zinc finger protein 390"	ZNF453, ZNF390			Standard	NM_001012455		Approved	dJ29K1.3.1	uc003nli.4	Q3MJ62	OTTHUMG00000016346	ENST00000289788.4:c.1067C>T	chr6.hg19:g.28402345G>A	ENSP00000289788:p.Thr356Ile		Q96KV9	Missense_Mutation	SNP	ENST00000289788.4	hg19	CCDS47393.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.245900	0.80024	.	.	ENSG00000187987	ENST00000289788	T	0.25749	1.78	3.93	3.93	0.45458	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39909	N	0.001229	T	0.36386	0.0965	M	0.80183	2.485	0.34741	D	0.730734	D	0.55385	0.971	P	0.56788	0.806	T	0.46541	-0.9184	10	0.87932	D	0	.	13.4765	0.61312	0.0:0.0:1.0:0.0	.	356	Q3MJ62	ZSC23_HUMAN	I	356	ENSP00000289788:T356I	ENSP00000289788:T356I	T	-	2	0	ZSCAN23	28510324	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.856000	0.69518	2.007000	0.58848	0.650000	0.86243	ACT		0.448	ZSCAN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043751.2	XM_167147		A	28402345	G	A	28402345	3	1	775	1	0	0	0	0	1	0	0	0	18240	1029	36	2	106	2	ZSCAN23	6	28402345	Missense_Mutation	SNP	G	TCGA-P4-A5EB-01A-11D-A28G-10		28402345	142712722	47	45781											
DPCR1	135656	hgsc.bcm.edu	37	6	30918494	30918494	+	Missense_Mutation	SNP	C	C	G			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr6:30918494C>G	ENST00000462446.1	+	2	2281	c.2253C>G	c.(2251-2253)aaC>aaG	p.N751K	DPCR1_ENST00000304311.2_5'UTR|HCG21_ENST00000419481.1_RNA			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	315						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						CCAATGAGAACACCACACCAT	0.483																																																0													47	48	48					6																	30918494		692	1591	2283	SO:0001583	missense	135656			AB064272	CCDS4692.1, CCDS4692.2	6p21.32	2008-02-05			ENSG00000168631	ENSG00000168631			21666	protein-coding gene	gene with protein product		613928				12185533, 10677310	Standard	NM_080870		Approved	PBLT, bCX105N19.6	uc003nsg.2	Q3MIW9	OTTHUMG00000031104	ENST00000462446.1:c.2253C>G	chr6.hg19:g.30918494C>G	ENSP00000417182:p.Asn751Lys		C9IZC0|Q658M7|Q8WYN2	Missense_Mutation	SNP	ENST00000462446.1	hg19	CCDS4692.2	.	.	.	.	.	.	.	.	.	.	-	0.005	-2.134125	0.00338	.	.	ENSG00000168631	ENST00000462446	T	0.42900	0.96	1.63	-3.25	0.05079	.	.	.	.	.	T	0.04770	0.0129	N	0.14661	0.345	0.20196	N	0.999924	B	0.10296	0.003	B	0.04013	0.001	T	0.35375	-0.9791	9	0.05833	T	0.94	.	4.4043	0.11402	0.0:0.2495:0.2493:0.5011	.	751	E9PEI6	.	K	751	ENSP00000417182:N751K	ENSP00000417182:N751K	N	+	3	2	DPCR1	31026473	0.000000	0.05858	0.000000	0.03702	0.072000	0.16883	-0.332000	0.07904	-0.774000	0.04590	0.282000	0.19409	AAC		0.483	DPCR1-001	NOVEL	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076173.3	NM_080870		G	30918494	C	G	30918494	3	3	775	1	0	0	0	0	1	0	0	0	4714	477	17	4	2259	4	DPCR1	6	30918494	Missense_Mutation	SNP	C	TCGA-P4-A5EB-01A-11D-A28G-10	2516149	30918494	140196573	48	45782											
TNXB	7148	hgsc.bcm.edu	37	6	32016288	32016288	+	Silent	SNP	C	C	T	rs373655652		TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr6:32016288C>T	ENST00000375244.3	-	29	10098	c.9897G>A	c.(9895-9897)gcG>gcA	p.A3299A	TNXB_ENST00000451343.1_5'Flank|TNXB_ENST00000375247.2_Silent_p.A3297A			P22105	TENX_HUMAN	tenascin XB	3344	Fibronectin type-III 24. {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						GCTGCCCCTGCGCGTCCCTGT	0.687																																																0								C		0,3902		0,0,1951	17	21	19		9891	-7.3	0	6		19	3,8267		0,3,4132	no	coding-synonymous	TNXB	NM_019105.6		0,3,6083	TT,TC,CC		0.0363,0.0,0.0246		3297/4243	32016288	3,12169	1951	4135	6086	SO:0001819	synonymous_variant	7148			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.9897G>A	chr6.hg19:g.32016288C>T			P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	hg19																																																																																					0.687	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		T	32016288	C	T	32016288	2	4	775	1	0	0	0	0	0	0	0	1	16351	755	27	1		1	TNXB	6	32016288	Silent	SNP	C	TCGA-P4-A5EB-01A-11D-A28G-10	1097794	32016288	139098779	49	45783											
TNXB	7148	hgsc.bcm.edu	37	6	32063589	32063589	+	Missense_Mutation	SNP	C	C	G			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr6:32063589C>G	ENST00000479795.1	-	3	2181	c.2041G>C	c.(2041-2043)Gaa>Caa	p.E681Q	TNXB_ENST00000375244.3_Missense_Mutation_p.E681Q|TNXB_ENST00000375247.2_Missense_Mutation_p.E681Q			P22105	TENX_HUMAN	tenascin XB	681					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						GGAGGCTCTTCCTGCCCGCAG	0.701																																																0													16	20	18					6																	32063589		2114	4231	6345	SO:0001583	missense	7148			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000479795.1:c.2041G>C	chr6.hg19:g.32063589C>G	ENSP00000418248:p.Glu681Gln		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000479795.1	hg19		.	.	.	.	.	.	.	.	.	.	C	20.2	3.955354	0.73902	.	.	ENSG00000168477	ENST00000375244;ENST00000375247;ENST00000479795	T;T;T	0.08546	3.08;3.08;3.08	4.78	4.78	0.61160	.	0.000000	0.45126	D	0.000397	T	0.08088	0.0202	L	0.37750	1.13	0.26200	N	0.979459	D	0.65815	0.995	P	0.61477	0.889	T	0.19549	-1.0302	10	0.30078	T	0.28	.	13.3295	0.60479	0.0:1.0:0.0:0.0	.	681	P22105-3	.	Q	681	ENSP00000364393:E681Q;ENSP00000364396:E681Q;ENSP00000418248:E681Q	ENSP00000364393:E681Q	E	-	1	0	TNXB	32171567	0.970000	0.33590	0.850000	0.33497	0.919000	0.55068	0.746000	0.26275	2.198000	0.70561	0.563000	0.77884	GAA		0.701	TNXB-007	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000357059.1	NM_019105		G	32063589	C	G	32063589	3	3	775	1	0	0	0	0	1	0	0	0	16351	864	30	4	12840	4	TNXB	6	32063589	Missense_Mutation	SNP	C	TCGA-P4-A5EB-01A-11D-A28G-10	47301	32063589	139051478	50	45784											
DNAH8	1769	hgsc.bcm.edu	37	6	38818063	38818080	+	In_Frame_Del	DEL	ATAAAAATAATGCAGCGA	ATAAAAATAATGCAGCGA	-	rs200056261|rs201568629|rs547165959		TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	ATAAAAATAATGCAGCGA	ATAAAAATAATGCAGCGA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr6:38818063_38818080delATAAAAATAATGCAGCGA	ENST00000359357.3	+	36	4839_4856	c.4585_4602delATAAAAATAATGCAGCGA	c.(4585-4602)ataaaaataatgcagcgadel	p.IKIMQR1529del	DNAH8_ENST00000449981.2_In_Frame_Del_p.IKIMQR1746del|DNAH8_ENST00000441566.1_In_Frame_Del_p.IKIMQR1529del			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1529					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.I1529I(2)		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						CAAGTCTTGGATAAAAATAATGCAGCGAGCTCATGAGA	0.362																																																2	Substitution - coding silent(2)	lung(2)																																								SO:0001651	inframe_deletion	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.4585_4602delATAAAAATAATGCAGCGA	chr6.hg19:g.38818063_38818080delATAAAAATAATGCAGCGA	ENSP00000352312:p.Ile1529_Arg1534del		O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	In_Frame_Del	DEL	ENST00000359357.3	hg19																																																																																					0.362	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		-	38818080	ATAAAAATAATGCAGCGA	-	38818063	7	5	775	1	0	1	0	1	0	0	0	0	4609	333	12	0	4719	0	DNAH8	6	38818063	In_Frame_Del	DEL	ATAAAAATAATGCAGCGA	TCGA-P4-A5EB-01A-11D-A28G-10	6754474	38818063	132297004	51	45785											
CUL9	23113	hgsc.bcm.edu	37	6	43155541	43155541	+	Missense_Mutation	SNP	A	A	G			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr6:43155541A>G	ENST00000252050.4	+	7	1756	c.1672A>G	c.(1672-1674)Agc>Ggc	p.S558G	CUL9_ENST00000372647.2_Missense_Mutation_p.S558G|CUL9_ENST00000354495.3_Missense_Mutation_p.S448G	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	558					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						ATTTGAGGGCAGCACTCTCAA	0.517																																																0													122	121	121					6																	43155541		2203	4300	6503	SO:0001583	missense	23113			AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"parkin-like cytoplasmic p53 binding protein", "p53-associated parkin-like cytoplasmic protein"	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.1672A>G	chr6.hg19:g.43155541A>G	ENSP00000252050:p.Ser558Gly		O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	hg19	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	A	13.47	2.245727	0.39697	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.77489	-1.1;-0.91;-1.0	5.5	4.35	0.52113	.	0.665930	0.17251	N	0.181151	T	0.50343	0.1610	L	0.43152	1.355	0.27626	N	0.948198	B;B;B	0.16603	0.018;0.018;0.003	B;B;B	0.16722	0.016;0.016;0.002	T	0.40794	-0.9544	10	0.48119	T	0.1	-13.3974	4.4793	0.11759	0.702:0.0:0.1464:0.1516	.	558;558;558	E9PEZ1;Q8IWT3;Q05C85	.;CUL9_HUMAN;.	G	558;448;558	ENSP00000252050:S558G;ENSP00000346490:S448G;ENSP00000361730:S558G	ENSP00000252050:S558G	S	+	1	0	CUL9	43263519	0.994000	0.37717	1.000000	0.80357	0.943000	0.58893	1.801000	0.38843	2.090000	0.63153	0.383000	0.25322	AGC		0.517	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		G	43155541	A	G	43155541	3	3	775	1	0	0	0	0	1	0	0	0	4063	188	7	3	1694	3	CUL9	6	43155541	Missense_Mutation	SNP	A	TCGA-P4-A5EB-01A-11D-A28G-10	4337478	43155541	127959526	52	45786											
PKHD1	5314	hgsc.bcm.edu	37	6	51586795	51586795	+	Intron	SNP	T	T	G			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr6:51586795T>G	ENST00000371117.3	-	60	10432				PKHD1_ENST00000340994.4_Missense_Mutation_p.I3394L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)						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)					TATTCTGAAATCTTCAAAGCC	0.448																																																0													71	70	70					6																	51586795		2203	4300	6503	SO:0001627	intron_variant	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.10156+22387A>C	chr6.hg19:g.51586795T>G			Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	hg19	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	T	11.62	1.692382	0.30052	.	.	ENSG00000170927	ENST00000340994	D	0.86627	-2.15	3.72	-0.352	0.12598	.	.	.	.	.	T	0.61949	0.2388	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.54275	-0.8318	8	0.54805	T	0.06	.	4.5853	0.12279	0.0:0.1103:0.3908:0.4988	.	3394	P08F94-2	.	L	3394	ENSP00000341097:I3394L	ENSP00000341097:I3394L	I	-	1	0	PKHD1	51694754	0.000000	0.05858	0.000000	0.03702	0.220000	0.24768	0.004000	0.13106	-0.046000	0.13446	0.379000	0.24179	ATT		0.448	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		G	51586795	T	G	51586795	1	3	775	0	1	0	0	0	0	0	0	0	11973	1435	50	5		5	PKHD1	6	51586795	Intron	SNP	T	TCGA-P4-A5EB-01A-11D-A28G-10	8431254	51586795	119528272	53	45787											
COL21A1	81578	hgsc.bcm.edu	37	6	55933890	55933890	+	Missense_Mutation	SNP	G	G	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr6:55933890G>T	ENST00000244728.5	-	22	2442	c.2045C>A	c.(2044-2046)cCa>cAa	p.P682Q	COL21A1_ENST00000535941.1_Missense_Mutation_p.P682Q|COL21A1_ENST00000370808.2_Missense_Mutation_p.P82Q|COL21A1_ENST00000370819.1_Missense_Mutation_p.P679Q|COL21A1_ENST00000467045.1_5'UTR	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	682	Collagen-like 4.				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)			TGGTTCTCCTGGGGAACCCGT	0.423																																																0													62	62	62					6																	55933890		1831	4076	5907	SO:0001583	missense	81578			AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"Collagens"	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.2045C>A	chr6.hg19:g.55933890G>T	ENSP00000244728:p.Pro682Gln		A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Missense_Mutation	SNP	ENST00000244728.5	hg19	CCDS55025.1	.	.	.	.	.	.	.	.	.	.	G	13.12	2.143568	0.37825	.	.	ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811;ENST00000370808	D;D;D;D	0.97752	-4.52;-4.52;-4.52;-4.52	4.38	3.48	0.39840	.	0.000000	0.49305	U	0.000144	D	0.95968	0.8687	L	0.28192	0.835	0.47407	D	0.999413	P;P;D	0.89917	0.886;0.77;1.0	B;P;D	0.97110	0.381;0.515;1.0	D	0.94500	0.7709	10	0.27785	T	0.31	.	12.3453	0.55118	0.0:0.0:0.8294:0.1705	.	82;682;682	Q96P44-2;B7ZLK3;Q96P44	.;.;COLA1_HUMAN	Q	682;679;682;679;82	ENSP00000244728:P682Q;ENSP00000359855:P679Q;ENSP00000444384:P682Q;ENSP00000359844:P82Q	ENSP00000244728:P682Q	P	-	2	0	COL21A1	56041849	1.000000	0.71417	0.163000	0.22734	0.829000	0.46940	4.396000	0.59684	0.905000	0.36596	0.557000	0.71058	CCA		0.423	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2			T	55933890	G	T	55933890	3	4	775	1	0	0	0	0	1	0	0	0	3682	1348	47	4	864	4	COL21A1	6	55933890	Missense_Mutation	SNP	G	TCGA-P4-A5EB-01A-11D-A28G-10	4347095	55933890	115181177	54	45788											
UBE2CBP	90025	hgsc.bcm.edu	37	6	83767555	83767555	+	Missense_Mutation	SNP	T	T	G			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr6:83767555T>G	ENST00000369747.3	-	2	386	c.264A>C	c.(262-264)aaA>aaC	p.K88N		NM_198920.1	NP_944602.1	Q7Z6J8	UBE3D_HUMAN	ubiquitin protein ligase E3D	88					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)										TTGTGCCTAATTTTGCTTGCG	0.443											OREG0017549	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													67	68	68					6																	83767555		2203	4300	6503	SO:0001583	missense	90025			AL137544	CCDS34491.1	6q15	2012-02-24	2012-02-24	2012-02-24	ENSG00000118420	ENSG00000118420			21381	protein-coding gene	gene with protein product	"UBCH10 binding protein with a hect-like domain"	612495	"chromosome 6 open reading frame 157", "ubiquitin-conjugating enzyme E2C binding protein"	C6orf157, UBE2CBP		15749827	Standard	NM_198920		Approved	DKFZp434A1520, H10BH, YJR141W	uc003pjp.2	Q7Z6J8	OTTHUMG00000015108	ENST00000369747.3:c.264A>C	chr6.hg19:g.83767555T>G	ENSP00000358762:p.Lys88Asn	1224	B4DP63|Q5T4W2|Q6IPR4|Q75UG0|Q9NT42	Missense_Mutation	SNP	ENST00000369747.3	hg19	CCDS34491.1	.	.	.	.	.	.	.	.	.	.	T	10.93	1.490288	0.26686	.	.	ENSG00000118420	ENST00000369747	T	0.30714	1.52	5.27	-10.5	0.00291	.	0.631105	0.16070	N	0.231043	T	0.02767	0.0083	N	0.08118	0	0.09310	N	0.999998	B;B	0.20164	0.042;0.002	B;B	0.18871	0.023;0.002	T	0.20009	-1.0288	10	0.33141	T	0.24	-18.3097	5.2116	0.15320	0.1807:0.4793:0.1961:0.1438	.	88;88	D6RD24;Q7Z6J8	.;UB2CB_HUMAN	N	88	ENSP00000358762:K88N	ENSP00000358762:K88N	K	-	3	2	UBE2CBP	83824274	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.412000	0.02476	-2.085000	0.00864	-0.911000	0.02809	AAA		0.443	UBE3D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041347.7	NM_198920		G	83767555	T	G	83767555	3	3	775	1	0	0	0	0	1	0	0	0	16852	1490	52	5	941	5	UBE2CBP	6	83767555	Missense_Mutation	SNP	T	TCGA-P4-A5EB-01A-11D-A28G-10	27833665	83767555	87347512	55	45789											
COQ3	51805	hgsc.bcm.edu	37	6	99823846	99823846	+	Silent	SNP	T	T	A			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr6:99823846T>A	ENST00000254759.3	-	5	723	c.699A>T	c.(697-699)acA>acT	p.T233T	COQ3_ENST00000369240.1_Intron|COQ3_ENST00000479163.1_5'Flank|COQ3_ENST00000369242.1_Intron	NM_017421.3	NP_059117.3	Q9NZJ6	COQ3_HUMAN	coenzyme Q3 methyltransferase	233					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)		ACTGTAAAAATGTTTCTAGAT	0.368																																																0													154	149	151					6																	99823846		2203	4300	6503	SO:0001819	synonymous_variant	51805			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.699A>T	chr6.hg19:g.99823846T>A			B3KPX0|Q5T061|Q6P4F0|Q8IXG6|Q96BG1|Q9H0N1	Silent	SNP	ENST00000254759.3	hg19	CCDS5042.1																																																																																				0.368	COQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041602.1	NM_017421		A	99823846	T	A	99823846	2	1	775	1	0	0	0	0	0	0	0	1	3748	1451	51	5		5	COQ3	6	99823846	Silent	SNP	T	TCGA-P4-A5EB-01A-11D-A28G-10	16056291	99823846	71291221	56	45790											
HECA	51696	hgsc.bcm.edu	37	6	139487930	139487930	+	Frame_Shift_Del	DEL	G	G	-			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr6:139487930delG	ENST00000367658.2	+	2	1066	c.781delG	c.(781-783)ggtfs	p.G261fs	RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000591102.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000590679.1_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	261					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)		CGCAGCCTACGGTGCCCGTTC	0.682																																																0													15	18	17					6																	139487930		2203	4297	6500	SO:0001589	frameshift_variant	51696			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.781delG	chr6.hg19:g.139487930delG	ENSP00000356630:p.Gly261fs			Frame_Shift_Del	DEL	ENST00000367658.2	hg19	CCDS5194.1																																																																																				0.682	HECA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042456.1	NM_016217		-	139487930	G	-	139487930	7	5	775	1	0	1	0	1	0	0	0	0	7040	1116	39	0	787	0	HECA	6	139487930	Frame_Shift_Del	DEL	G	TCGA-P4-A5EB-01A-11D-A28G-10	39664084	139487930	31627137	57	45791											
LATS1	9113	hgsc.bcm.edu	37	6	149997827	149997827	+	Silent	SNP	C	C	G			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr6:149997827C>G	ENST00000543571.1	-	6	3187	c.2640G>C	c.(2638-2640)ggG>ggC	p.G880G	LATS1_ENST00000253339.5_Silent_p.G880G|LATS1_ENST00000542747.1_5'UTR	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1											central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TTGAGGGATCCCCCCATTCAT	0.473																																																0													73	63	66					6																	149997827		2203	4300	6503	SO:0001819	synonymous_variant	9113			AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"LATS (large tumor suppressor, Drosophila) homolog 1", "LATS, large tumor suppressor, homolog 1 (Drosophila)"			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.2640G>C	chr6.hg19:g.149997827C>G				Silent	SNP	ENST00000543571.1	hg19	CCDS34551.1																																																																																				0.473	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4	NM_004690		G	149997827	C	G	149997827	2	3	775	1	0	0	0	0	0	0	0	1	8648	610	22	4		4	LATS1	6	149997827	Silent	SNP	C	TCGA-P4-A5EB-01A-11D-A28G-10	10509897	149997827	21117240	58	45792											
RBAK	57786	hgsc.bcm.edu	37	7	5104550	5104550	+	Frame_Shift_Del	DEL	G	G	-			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr7:5104550delG	ENST00000353796.3	+	6	1787	c.1463delG	c.(1462-1464)agtfs	p.S488fs	RBAK-RBAKDN_ENST00000396904.2_Intron|RBAK_ENST00000396912.1_Frame_Shift_Del_p.S488fs|RBAK-RBAKDN_ENST00000407184.1_Intron	NM_001204456.1	NP_001191385.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	488	Interaction with AR.				negative regulation of transcription, DNA-templated (GO:0045892)|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)			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		CATGAATGTAGTGAATGTGGA	0.373																																																0													64	64	64					7																	5104550		2203	4299	6502	SO:0001589	frameshift_variant	57786			AF226869	CCDS5337.1	7p22.1	2013-01-08			ENSG00000146587	ENSG00000146587		"Zinc fingers, C2H2-type", "-"	17680	protein-coding gene	gene with protein product		608191					Standard	NM_021163		Approved	ZNF769	uc003sns.1	Q9NYW8	OTTHUMG00000121155	ENST00000353796.3:c.1463delG	chr7.hg19:g.5104550delG	ENSP00000275423:p.Ser488fs		A6NDF2|A8KAK4|B2RN44|B9EGS1|F8W6M7	Frame_Shift_Del	DEL	ENST00000353796.3	hg19	CCDS5337.1																																																																																				0.373	RBAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241640.2	NM_021163		-	5104550	G	-	5104550	7	5	775	1	0	1	0	1	0	0	0	0	13106	1029	36	0	1477	0	RBAK	7	5104550	Frame_Shift_Del	DEL	G	TCGA-P4-A5EB-01A-11D-A28G-10		5104550	154034113	59	45793											
RNF216	54476	hgsc.bcm.edu	37	7	5781127	5781127	+	Nonsense_Mutation	SNP	G	G	C			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr7:5781127G>C	ENST00000425013.2	-	4	574	c.350C>G	c.(349-351)tCa>tGa	p.S117*	RNF216_ENST00000389902.3_Nonsense_Mutation_p.S174*	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	117					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)		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)		TTTCTGCTCTGATCTGGGGTT	0.463																																																0													267	250	256					7																	5781127		2203	4300	6503	SO:0001587	stop_gained	54476			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.350C>G	chr7.hg19:g.5781127G>C	ENSP00000404602:p.Ser117*		Q6Y691|Q75ML7|Q7Z2H7|Q7Z7C1|Q8NHW7|Q9NYT1	Nonsense_Mutation	SNP	ENST00000425013.2	hg19	CCDS34595.1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.567910	0.65651	.	.	ENSG00000011275	ENST00000425013;ENST00000389902	.	.	.	5.97	3.93	0.45458	.	0.519284	0.17997	N	0.155007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	-4.5609	7.8068	0.29206	0.2458:0.0:0.7542:0.0	.	.	.	.	X	117;174	.	ENSP00000374550:S117X	S	-	2	0	RNF216	5747653	0.000000	0.05858	0.995000	0.50966	0.994000	0.84299	0.252000	0.18278	1.509000	0.48786	0.561000	0.74099	TCA		0.463	RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340374.1	NM_207111		C	5781127	G	C	5781127	4	2	775	1	0	0	0	0	0	1	0	0	13486	1294	45	4	2306	4	RNF216	7	5781127	Nonsense_Mutation	SNP	G	TCGA-P4-A5EB-01A-11D-A28G-10	676577	5781127	153357536	60	45794											
VSTM2A	222008	hgsc.bcm.edu	37	7	54612346	54612346	+	Frame_Shift_Del	DEL	G	G	-			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr7:54612346delG	ENST00000407838.3	+	2	517	c.111delG	c.(109-111)acgfs	p.T37fs	VSTM2A_ENST00000302287.3_Frame_Shift_Del_p.T37fs|VSTM2A_ENST00000402613.3_Frame_Shift_Del_p.T37fs|VSTM2A_ENST00000404951.1_Frame_Shift_Del_p.T37fs|VSTM2A_ENST00000402026.2_Frame_Shift_Del_p.T36fs	NM_182546.2	NP_872352.2	Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	37	Ig-like V-type.					extracellular region (GO:0005576)				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			GGAACGTGACGGCGACCGAGG	0.577																																																0													61	60	60					7																	54612346		2203	4300	6503	SO:0001589	frameshift_variant	222008			BC028404	CCDS5512.2, CCDS75604.1	7p11.2	2013-01-11	2007-08-10	2007-08-10	ENSG00000170419	ENSG00000170419		"Immunoglobulin superfamily / V-set domain containing"	28499	protein-coding gene	gene with protein product			"V-set and transmembrane domain containing 2"	VSTM2		12477932	Standard	XM_006715663		Approved	MGC33530	uc010kzf.3	Q8TAG5	OTTHUMG00000129271	ENST00000407838.3:c.111delG	chr7.hg19:g.54612346delG	ENSP00000384967:p.Thr37fs		A4D2E9|B5MC94	Frame_Shift_Del	DEL	ENST00000407838.3	hg19	CCDS5512.2																																																																																				0.577	VSTM2A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318694.1	NM_182546		-	54612346	G	-	54612346	7	5	775	1	0	1	0	1	0	0	0	0	17234	1103	39	0	117	0	VSTM2A	7	54612346	Frame_Shift_Del	DEL	G	TCGA-P4-A5EB-01A-11D-A28G-10	48831219	54612346	104526317	61	45795											
ZNF655	79027	hgsc.bcm.edu	37	7	99158261	99158261	+	Silent	SNP	C	C	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr7:99158261C>T	ENST00000394163.2	+	2	262	c.79C>T	c.(79-81)Ctg>Ttg	p.L27L	GS1-259H13.10_ENST00000455905.1_Silent_p.L27L|GS1-259H13.10_ENST00000486324.1_3'UTR|ZNF655_ENST00000449244.1_Silent_p.L27L|ZNF655_ENST00000440391.1_Silent_p.L27L|ZNF655_ENST00000424881.1_Silent_p.L27L|ZNF655_ENST00000493277.1_Silent_p.L27L|ZNF655_ENST00000252713.4_Silent_p.L27L|ZNF655_ENST00000320583.5_Silent_p.L27L|ZNF655_ENST00000454654.1_Silent_p.L27L|ZNF655_ENST00000425063.1_Silent_p.L27L|ZNF655_ENST00000357864.2_Silent_p.L27L	NM_001009960.1|NM_138494.2	NP_001009960.1|NP_612503.1	Q8N720	ZN655_HUMAN	zinc finger protein 655	27					negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					GTCTGAGTGTCTGTCCCCAGA	0.567																																																0													118	113	114					7																	99158261		2203	4300	6503	SO:0001819	synonymous_variant	79027			AY099353	CCDS5669.1, CCDS5670.1, CCDS34695.1, CCDS47655.1	7q22.1	2013-01-08			ENSG00000197343	ENSG00000197343		"Zinc fingers, C2H2-type", "-"	30899	protein-coding gene	gene with protein product						11179890, 15558030	Standard	NM_001083956		Approved	VIK-1, VIK	uc010lgc.3	Q8N720	OTTHUMG00000156637	ENST00000394163.2:c.79C>T	chr7.hg19:g.99158261C>T			A4D291|A6NGD3|B4E3M4|B7Z9Q9|D6W5T4|Q8IV00|Q8TA89|Q96EZ3|Q9BQ85	Silent	SNP	ENST00000394163.2	hg19	CCDS5669.1																																																																																				0.567	ZNF655-009	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000344929.1	NM_138494		T	99158261	C	T	99158261	2	4	775	1	0	0	0	0	0	0	0	1	18073	912	32	2		2	ZNF655	7	99158261	Silent	SNP	C	TCGA-P4-A5EB-01A-11D-A28G-10	44545915	99158261	59980402	62	45796											
C7orf45	136263	hgsc.bcm.edu	37	7	129856036	129856036	+	Missense_Mutation	SNP	A	A	T	rs144099660		TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr7:129856036A>T	ENST00000297819.3	+	3	512	c.461A>T	c.(460-462)gAg>gTg	p.E154V		NM_145268.3	NP_660311.1	Q8WWF3	SSMM1_HUMAN	serine-rich single-pass membrane protein 1	154						integral component of membrane (GO:0016021)											GGCAGTGAAGAGTCTAACTCA	0.478																																																0													98	99	99					7																	129856036		2203	4300	6503	SO:0001583	missense	0			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.461A>T	chr7.hg19:g.129856036A>T	ENSP00000297819:p.Glu154Val			Missense_Mutation	SNP	ENST00000297819.3	hg19	CCDS5816.1	.	.	.	.	.	.	.	.	.	.	A	15.74	2.921732	0.52653	.	.	ENSG00000165120	ENST00000297819	T	0.55052	0.54	5.56	3.09	0.35607	.	0.365080	0.26103	N	0.026340	T	0.48589	0.1508	M	0.63428	1.95	0.32923	D	0.516117	B	0.20671	0.047	B	0.24541	0.054	T	0.56044	-0.8044	10	0.87932	D	0	-6.405	8.8929	0.35446	0.702:0.0:0.0:0.2979	.	154	Q8WWF3	CG045_HUMAN	V	154	ENSP00000297819:E154V	ENSP00000297819:E154V	E	+	2	0	C7orf45	129643272	0.962000	0.33011	0.961000	0.40146	0.396000	0.30629	2.242000	0.43106	0.352000	0.24053	0.402000	0.26972	GAG		0.478	SSMEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349768.1	NM_145268		T	129856036	A	T	129856036	3	4	775	1	0	0	0	0	1	0	0	0	2397	304	11	5	471	5	C7orf45	7	129856036	Missense_Mutation	SNP	A	TCGA-P4-A5EB-01A-11D-A28G-10	30697775	129856036	29282627	63	45797											
HIPK2	28996	hgsc.bcm.edu	37	7	139258060	139258060	+	Silent	SNP	C	C	A			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr7:139258060C>A	ENST00000406875.3	-	15	3304	c.3210G>T	c.(3208-3210)ccG>ccT	p.P1070P	HIPK2_ENST00000428878.2_Silent_p.P1043P	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	1070	Autoinhibitory domain (AID).				adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GGAAGGAGTACGGAGCCTGGG	0.682																																																0													84	104	97					7																	139258060		2181	4276	6457	SO:0001819	synonymous_variant	28996			AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"homeodomain-interacting protein kinase 2"			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.3210G>T	chr7.hg19:g.139258060C>A			Q75MR7|Q8WWI4|Q9H2Y1	Silent	SNP	ENST00000406875.3	hg19																																																																																					0.682	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349430.3	NM_022740		A	139258060	C	A	139258060	2	1	775	1	0	0	0	0	0	0	0	1	7119	523	19	4		4	HIPK2	7	139258060	Silent	SNP	C	TCGA-P4-A5EB-01A-11D-A28G-10	9402024	139258060	19880603	64	45798											
LRRCC1	85444	hgsc.bcm.edu	37	8	86057651	86057651	+	Nonsense_Mutation	SNP	G	G	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr8:86057651G>T	ENST00000360375.3	+	19	3153	c.3004G>T	c.(3004-3006)Gaa>Taa	p.E1002*	LRRCC1_ENST00000414626.2_Nonsense_Mutation_p.E982*	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	1002					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						AGAAATGCGTGAACTTTTGGA	0.269																																																0													49	45	46					8																	86057651		1795	4056	5851	SO:0001587	stop_gained	85444			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.3004G>T	chr8.hg19:g.86057651G>T	ENSP00000353538:p.Glu1002*		B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Nonsense_Mutation	SNP	ENST00000360375.3	hg19	CCDS43750.1	.	.	.	.	.	.	.	.	.	.	G	38	6.807978	0.97853	.	.	ENSG00000133739	ENST00000360375;ENST00000414626	.	.	.	4.97	4.06	0.47325	.	0.467007	0.15962	N	0.236193	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-1.6865	14.481	0.67582	0.0:0.2766:0.7234:0.0	.	.	.	.	X	1002;982	.	ENSP00000353538:E1002X	E	+	1	0	LRRCC1	86244903	1.000000	0.71417	0.956000	0.39512	0.626000	0.37791	3.387000	0.52501	2.567000	0.86603	0.491000	0.48974	GAA		0.269	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	NM_033402		T	86057651	G	T	86057651	4	4	775	1	0	0	0	0	0	1	0	0	9028	1291	45	4	3078	4	LRRCC1	8	86057651	Nonsense_Mutation	SNP	G	TCGA-P4-A5EB-01A-11D-A28G-10		86057651	60306371	65	45799											
CSMD3	114788	hgsc.bcm.edu	37	8	113678545	113678545	+	Missense_Mutation	SNP	T	T	G			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr8:113678545T>G	ENST00000297405.5	-	17	3021	c.2777A>C	c.(2776-2778)gAa>gCa	p.E926A	CSMD3_ENST00000352409.3_Missense_Mutation_p.E926A|CSMD3_ENST00000343508.3_Missense_Mutation_p.E886A|CSMD3_ENST00000455883.2_Missense_Mutation_p.E822A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	926	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGGTTCAGCTTCAATCACCCA	0.388										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																						0													66	64	65					8																	113678545		2203	4300	6503	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.2777A>C	chr8.hg19:g.113678545T>G	ENSP00000297405:p.Glu926Ala		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	hg19	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.621461	0.87460	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.18502	2.21;2.21;2.21;2.21;2.21	5.97	5.97	0.96955	CUB (5);	0.000000	0.64402	D	0.000001	T	0.38214	0.1032	L	0.58428	1.81	0.46028	D	0.998827	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.997;0.998;0.999	T	0.03374	-1.1043	10	0.25751	T	0.34	.	16.4523	0.83996	0.0:0.0:0.0:1.0	.	822;926;886	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	A	886;926;266;822;926	ENSP00000345799:E886A;ENSP00000297405:E926A;ENSP00000341558:E266A;ENSP00000412263:E822A;ENSP00000343124:E926A	ENSP00000297405:E926A	E	-	2	0	CSMD3	113747721	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.286000	0.76751	0.455000	0.32223	GAA		0.388	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		G	113678545	T	G	113678545	3	3	775	1	0	0	0	0	1	0	0	0	3948	1783	62	5	8566	5	CSMD3	8	113678545	Missense_Mutation	SNP	T	TCGA-P4-A5EB-01A-11D-A28G-10	27620894	113678545	32685477	66	45800											
PLAA	9373	hgsc.bcm.edu	37	9	26925951	26925951	+	Silent	SNP	C	C	A			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr9:26925951C>A	ENST00000397292.3	-	6	1158	c.741G>T	c.(739-741)gtG>gtT	p.V247V	PLAA_ENST00000520884.1_Silent_p.V247V	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	247					inflammatory response (GO:0006954)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	phospholipase A2 activator activity (GO:0016005)			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		CTGCTGTTGTCACAAAGTCTA	0.373																																					Melanoma(175;2670 2735 14091 35526)											0													90	80	83					9																	26925951		2203	4300	6503	SO:0001819	synonymous_variant	9373			AF083395	CCDS35000.1	9p21	2013-01-10			ENSG00000137055	ENSG00000137055		"WD repeat domain containing"	9043	protein-coding gene	gene with protein product	"DOA1 homolog (S. cerevisiae)"	603873				9931468, 10644453	Standard	NM_001031689		Approved	PLAP, PLA2P, FLJ11281, FLJ12699, DOA1	uc003zqd.3	Q9Y263	OTTHUMG00000019708	ENST00000397292.3:c.741G>T	chr9.hg19:g.26925951C>A			Q53EU5|Q5VY33|Q9NUL8|Q9NVE9|Q9UF53|Q9Y5L1	Silent	SNP	ENST00000397292.3	hg19	CCDS35000.1	.	.	.	.	.	.	.	.	.	.	C	6.836	0.523440	0.13066	.	.	ENSG00000137055	ENST00000523212	.	.	.	4.07	3.16	0.36331	.	.	.	.	.	T	0.47710	0.1460	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35871	-0.9771	4	.	.	.	-2.2178	4.411	0.11432	0.1594:0.5773:0.0:0.2632	.	.	.	.	Y	224	.	.	D	-	1	0	PLAA	26915951	0.997000	0.39634	1.000000	0.80357	0.994000	0.84299	0.336000	0.19823	0.817000	0.34445	0.585000	0.79938	GAC		0.373	PLAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051958.2	NM_001031689		A	26925951	C	A	26925951	2	1	775	1	0	0	0	0	0	0	0	1	12013	813	29	4		4	PLAA	9	26925951	Silent	SNP	C	TCGA-P4-A5EB-01A-11D-A28G-10		26925951	114287480	67	45801											
RUSC2	9853	hgsc.bcm.edu	37	9	35547875	35547875	+	Frame_Shift_Del	DEL	G	G	-	rs375840925		TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr9:35547875delG	ENST00000455600.1	+	2	1926	c.1357delG	c.(1357-1359)gtcfs	p.V453fs		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	453						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)			GAAGCCAGAAGTCCAGCCAGA	0.572																																																0													107	127	120					9																	35547875		2203	4300	6503	SO:0001589	frameshift_variant	9853			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.1357delG	chr9.hg19:g.35547875delG	ENSP00000393922:p.Val453fs		A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Frame_Shift_Del	DEL	ENST00000455600.1	hg19	CCDS35008.1																																																																																				0.572	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	XM_048462		-	35547875	G	-	35547875	7	5	775	1	0	1	0	1	0	0	0	0	13757	1029	36	0	1359	0	RUSC2	9	35547875	Frame_Shift_Del	DEL	G	TCGA-P4-A5EB-01A-11D-A28G-10	8621924	35547875	105665556	68	45802											
TLN1	7094	hgsc.bcm.edu	37	9	35711276	35711276	+	Missense_Mutation	SNP	T	T	A			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr9:35711276T>A	ENST00000314888.9	-	30	4348	c.3995A>T	c.(3994-3996)aAg>aTg	p.K1332M	TLN1_ENST00000540444.1_Missense_Mutation_p.K1332M	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1332	Interaction with SYNM.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CAGCTGACTCTTGAGGTTAGG	0.562																																																0													51	49	50					9																	35711276		2203	4300	6503	SO:0001583	missense	7094			AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.3995A>T	chr9.hg19:g.35711276T>A	ENSP00000316029:p.Lys1332Met		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	hg19	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.775730	0.90195	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.18810	2.19;2.19	5.82	5.82	0.92795	Vinculin-binding site-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.44138	0.1279	M	0.83953	2.67	0.80722	D	1	P	0.52316	0.952	P	0.53954	0.738	T	0.48234	-0.9053	10	0.62326	D	0.03	-24.4418	16.1778	0.81874	0.0:0.0:0.0:1.0	.	1332	Q9Y490	TLN1_HUMAN	M	1332	ENSP00000316029:K1332M;ENSP00000442981:K1332M	ENSP00000316029:K1332M	K	-	2	0	TLN1	35701276	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	8.040000	0.89188	2.225000	0.72522	0.459000	0.35465	AAG		0.562	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		A	35711276	T	A	35711276	3	1	775	1	0	0	0	0	1	0	0	0	15952	1609	56	5	3742	5	TLN1	9	35711276	Missense_Mutation	SNP	T	TCGA-P4-A5EB-01A-11D-A28G-10	163401	35711276	105502155	69	45803											
TJP2	9414	hgsc.bcm.edu	37	9	71869284	71869285	+	Frame_Shift_Ins	INS	-	-	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr9:71869284_71869285insT	ENST00000377245.4	+	23	3775_3776	c.3567_3568insT	c.(3568-3570)ttafs	p.L1190fs	TJP2_ENST00000539225.1_Frame_Shift_Ins_p.L1221fs|TJP2_ENST00000535702.1_Frame_Shift_Ins_p.L1157fs|TJP2_ENST00000348208.4_Frame_Shift_Ins_p.L1043fs|TJP2_ENST00000453658.2_Frame_Shift_Ins_p.L1020fs	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	1190	Interaction with SCRIB.				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						GGGACACAGAATTATAGATGTC	0.579																																																0																																										SO:0001589	frameshift_variant	9414			L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"Friedreich ataxia region gene X104 (tight junction protein ZO-2)", "zona occludens 2"	607709	"deafness, autosomal dominant 51"	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.3569dupT	chr9.hg19:g.71869286_71869286dupT	ENSP00000366453:p.Leu1190fs		A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Frame_Shift_Ins	INS	ENST00000377245.4	hg19	CCDS6627.1																																																																																				0.579	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052572.2	NM_201629		T	71869285	-	T	71869284	7	5	775	1	0	1	1	0	0	0	0	0	15935	98	4	0	3916	0	TJP2	9	71869284	Frame_Shift_Ins	INS	-	TCGA-P4-A5EB-01A-11D-A28G-10	36158008	71869284	69344147	70	45804											
RNF20	56254	hgsc.bcm.edu	37	9	104302538	104302538	+	Missense_Mutation	SNP	G	G	C			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr9:104302538G>C	ENST00000389120.3	+	3	273	c.183G>C	c.(181-183)atG>atC	p.M61I	RNF20_ENST00000481046.1_3'UTR	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	61					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)		TGGCAGAAATGTTGGATCAGC	0.438																																																0													98	88	92					9																	104302538		2203	4300	6503	SO:0001583	missense	56254			AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"RING-type (C3HC4) zinc fingers"	10062	protein-coding gene	gene with protein product	"BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"	607699	"ring finger protein 20"			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.183G>C	chr9.hg19:g.104302538G>C	ENSP00000373772:p.Met61Ile		A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Missense_Mutation	SNP	ENST00000389120.3	hg19	CCDS35084.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.120440	0.37436	.	.	ENSG00000155827	ENST00000389120;ENST00000478347;ENST00000488264;ENST00000374819;ENST00000479306;ENST00000466817	T	0.29655	1.56	4.17	3.28	0.37604	.	0.193183	0.56097	D	0.000035	T	0.21387	0.0515	N	0.22421	0.69	0.36185	D	0.849654	B	0.02656	0.0	B	0.01281	0.0	T	0.16453	-1.0402	10	0.87932	D	0	-19.2966	11.9251	0.52814	0.0866:0.0:0.9134:0.0	.	61	Q5VTR2	BRE1A_HUMAN	I	61;49;47;61;61;61	ENSP00000373772:M61I	ENSP00000363952:M61I	M	+	3	0	RNF20	103342359	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	4.058000	0.57463	1.125000	0.41998	-0.379000	0.06801	ATG		0.438	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356402.1	NM_019592		C	104302538	G	C	104302538	3	2	775	1	0	0	0	0	1	0	0	0	13479	1377	48	4	189	4	RNF20	9	104302538	Missense_Mutation	SNP	G	TCGA-P4-A5EB-01A-11D-A28G-10	32433254	104302538	36910893	71	45805											
ABCA1	19	hgsc.bcm.edu	37	9	107573100	107573100	+	Missense_Mutation	SNP	C	C	G			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr9:107573100C>G	ENST00000374736.3	-	29	4550	c.4156G>C	c.(4156-4158)Gaa>Caa	p.E1386Q		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1386					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)	GTGTACTGTTCGTTGTACATC	0.507																																																0													198	175	183					9																	107573100		2203	4300	6503	SO:0001583	missense	19			AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"ATP binding cassette transporters / subfamily A"	29	protein-coding gene	gene with protein product	"Tangier disease"	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.4156G>C	chr9.hg19:g.107573100C>G	ENSP00000363868:p.Glu1386Gln		Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	hg19	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.077801	0.36662	.	.	ENSG00000165029	ENST00000374736	D	0.92299	-3.01	5.55	5.55	0.83447	.	0.095616	0.64402	D	0.000001	D	0.88840	0.6546	L	0.37466	1.105	0.80722	D	1	B	0.21309	0.054	B	0.26416	0.069	D	0.83736	0.0201	10	0.15499	T	0.54	.	19.8667	0.96806	0.0:1.0:0.0:0.0	.	1386	O95477	ABCA1_HUMAN	Q	1386	ENSP00000363868:E1386Q	ENSP00000363868:E1386Q	E	-	1	0	ABCA1	106612921	1.000000	0.71417	0.988000	0.46212	0.947000	0.59692	6.015000	0.70791	2.773000	0.95371	0.655000	0.94253	GAA		0.507	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		G	107573100	C	G	107573100	3	3	775	1	0	0	0	0	1	0	0	0	28	893	31	4	2717	4	ABCA1	9	107573100	Missense_Mutation	SNP	C	TCGA-P4-A5EB-01A-11D-A28G-10	3270562	107573100	33640331	72	45806											
RPL7A	6130	hgsc.bcm.edu	37	9	136216489	136216489	+	Missense_Mutation	SNP	C	C	A			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr9:136216489C>A	ENST00000323345.6	+	3	238	c.208C>A	c.(208-210)Ctc>Atc	p.L70I	MED22_ENST00000471524.1_5'Flank|SNORD36B_ENST00000363961.1_RNA|MED22_ENST00000491289.1_5'Flank|MED22_ENST00000371999.1_5'Flank|SURF1_ENST00000495952.1_5'Flank|RPL7A_ENST00000315731.4_Intron|SNORD36C_ENST00000516733.1_RNA|MED22_ENST00000476080.1_5'Flank|MED22_ENST00000343730.5_5'Flank|SNORD36A_ENST00000362874.1_RNA|SNORD24_ENST00000383884.1_RNA|MED22_ENST00000344469.5_5'Flank|RPL7A_ENST00000463740.1_3'UTR	NM_000972.2	NP_000963.1	P62424	RL7A_HUMAN	ribosomal protein L7a	70					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 large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			cervix(1)|endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(145;4.93e-07)|Epithelial(140;4.09e-06)|all cancers(34;3.78e-05)		GAGAGCCATCCTCTATAAGCG	0.552																																																0													43	48	46					9																	136216489		2203	4294	6497	SO:0001583	missense	6130			BC005128	CCDS6965.1	9q34	2011-04-06			ENSG00000148303	ENSG00000148303		"L ribosomal proteins"	10364	protein-coding gene	gene with protein product	"surfeit 3", "PLA-X polypeptide", "surfeit locus protein 3", "60S ribosomal protein L7a", ";", "thyroid hormone receptor uncoupling protein"	185640				2403926, 2966065	Standard	NM_000972		Approved	SURF3, TRUP, L7A	uc004cde.1	P62424	OTTHUMG00000020864	ENST00000323345.6:c.208C>A	chr9.hg19:g.136216489C>A	ENSP00000361076:p.Leu70Ile		P11518|Q5T8U4	Missense_Mutation	SNP	ENST00000323345.6	hg19	CCDS6965.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.158547	0.57368	.	.	ENSG00000148303	ENST00000323345;ENST00000426651	T;T	0.70164	-0.46;-0.13	4.03	4.03	0.46877	.	0.000000	0.85682	D	0.000000	T	0.75539	0.3863	M	0.89287	3.02	0.80722	D	1	B	0.22604	0.072	B	0.34346	0.18	T	0.78841	-0.2045	10	0.66056	D	0.02	.	15.1827	0.72972	0.0:1.0:0.0:0.0	.	70	P62424	RL7A_HUMAN	I	70;97	ENSP00000361076:L70I;ENSP00000416638:L97I	ENSP00000361076:L70I	L	+	1	0	RPL7A	135206310	1.000000	0.71417	0.648000	0.29521	0.115000	0.19883	5.276000	0.65580	1.816000	0.52996	0.313000	0.20887	CTC		0.552	RPL7A-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054869.1	NM_000972		A	136216489	C	A	136216489	3	1	775	1	0	0	0	0	1	0	0	0	13606	681	24	4	218	4	RPL7A	9	136216489	Missense_Mutation	SNP	C	TCGA-P4-A5EB-01A-11D-A28G-10	28643389	136216489	4996942	73	45807											
LHX3	8022	hgsc.bcm.edu	37	9	139089398	139089398	+	Missense_Mutation	SNP	C	C	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr9:139089398C>T	ENST00000371748.5	-	6	1063	c.967G>A	c.(967-969)Gcc>Acc	p.A323T	LHX3_ENST00000371746.3_Missense_Mutation_p.A328T	NM_178138.4	NP_835258.1	Q9UBR4	LHX3_HUMAN	LIM homeobox 3	323					inner ear development (GO:0048839)|lung development (GO:0030324)|medial motor column neuron differentiation (GO:0021526)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|pituitary gland development (GO:0021983)|placenta development (GO:0001890)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spinal cord association neuron differentiation (GO:0021527)|spinal cord motor neuron cell fate specification (GO:0021520)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		CTCTGCGGGGCGGCGGGGGAT	0.736																																																0													2	2	2					9																	139089398		1495	3217	4712	SO:0001583	missense	8022			AF096169	CCDS6994.1, CCDS6995.1	9q34.3	2011-06-20			ENSG00000107187	ENSG00000107187		"Homeoboxes / LIM class"	6595	protein-coding gene	gene with protein product		600577				10598593, 10717474	Standard	NM_178138		Approved		uc004cgz.3	Q9UBR4	OTTHUMG00000020924	ENST00000371748.5:c.967G>A	chr9.hg19:g.139089398C>T	ENSP00000360813:p.Ala323Thr		Q5TB39|Q5TB40|Q9NZB5|Q9P0I8|Q9P0I9	Missense_Mutation	SNP	ENST00000371748.5	hg19	CCDS6994.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.336|6.336	0.430180|0.430180	0.12045|0.12045	.|.	.|.	ENSG00000107187|ENSG00000107187	ENST00000371748;ENST00000371746|ENST00000325195	D;D|.	0.88818|.	-2.27;-2.43|.	4.04|4.04	1.96|1.96	0.26148|0.26148	.|.	0.152719|.	0.45361|.	N|.	0.000361|.	T|T	0.28433|0.28433	0.0703|0.0703	L|L	0.36672|0.36672	1.1|1.1	0.22961|0.22961	N|N	0.998502|0.998502	B;P|.	0.34462|.	0.308;0.454|.	B;B|.	0.29942|.	0.109;0.075|.	T|T	0.20371|0.20371	-1.0277|-1.0277	10|6	0.17369|0.33940	T|T	0.5|0.23	.|.	4.7565|4.7565	0.13086|0.13086	0.3922:0.4882:0.0:0.1196|0.3922:0.4882:0.0:0.1196	.|.	323;328|.	Q9UBR4;F1T0D9|.	LHX3_HUMAN;.|.	T|H	323;328|324	ENSP00000360813:A323T;ENSP00000360811:A328T|.	ENSP00000360811:A328T|ENSP00000319224:R324H	A|R	-|-	1|2	0|0	LHX3|LHX3	138229219|138229219	0.831000|0.831000	0.29352|0.29352	0.042000|0.042000	0.18584|0.18584	0.173000|0.173000	0.22820|0.22820	1.670000|1.670000	0.37502|0.37502	0.891000|0.891000	0.36235|0.36235	0.491000|0.491000	0.48974|0.48974	GCC|CGC		0.736	LHX3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055048.3			T	139089398	C	T	139089398	3	4	775	1	0	0	0	0	1	0	0	0	8774	768	27	1	230	1	LHX3	9	139089398	Missense_Mutation	SNP	C	TCGA-P4-A5EB-01A-11D-A28G-10	2872909	139089398	2124033	74	45808											
OPTN	10133	hgsc.bcm.edu	37	10	13160994	13160994	+	Nonsense_Mutation	SNP	C	C	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr10:13160994C>T	ENST00000378748.3	+	8	1095	c.733C>T	c.(733-735)Cag>Tag	p.Q245*	OPTN_ENST00000378757.2_Nonsense_Mutation_p.Q245*|OPTN_ENST00000378747.3_Nonsense_Mutation_p.Q245*|OPTN_ENST00000378764.2_Nonsense_Mutation_p.Q239*|OPTN_ENST00000378752.3_Nonsense_Mutation_p.Q239*|OPTN_ENST00000263036.5_Nonsense_Mutation_p.Q245*	NM_001008211.1|NM_001008213.1	NP_001008212|NP_001008214	Q96CV9	OPTN_HUMAN	optineurin	245					cell death (GO:0008219)|defense response to Gram-negative bacterium (GO:0050829)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi organization (GO:0007030)|Golgi ribbon formation (GO:0090161)|Golgi to plasma membrane protein transport (GO:0043001)|macroautophagy (GO:0016236)|mitotic cell cycle (GO:0000278)|negative regulation of receptor recycling (GO:0001920)|protein targeting to Golgi (GO:0000042)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	polyubiquitin binding (GO:0031593)|protein C-terminus binding (GO:0008022)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						GGAAGGGAATCAGAAGGTGGA	0.428																																																0													93	91	91					10																	13160994		2203	4300	6503	SO:0001587	stop_gained	10133			AF420371	CCDS7094.1	10p14	2014-01-28	2003-09-08		ENSG00000123240	ENSG00000123240			17142	protein-coding gene	gene with protein product		602432	"glaucoma 1, open angle, E (adult-onset)"	GLC1E		11834836, 9488477	Standard	NM_001008211		Approved	FIP2, HYPL, FIP-2, TFIIIA-INTP, NRP, HIP7	uc001ilx.1	Q96CV9	OTTHUMG00000017690	ENST00000378748.3:c.733C>T	chr10.hg19:g.13160994C>T	ENSP00000368022:p.Gln245*		B3KP00|D3DRS4|D3DRS8|Q5T672|Q5T673|Q5T674|Q5T675|Q7LDL9|Q8N562|Q9UET9|Q9UEV4|Q9Y218	Nonsense_Mutation	SNP	ENST00000378748.3	hg19	CCDS7094.1	.	.	.	.	.	.	.	.	.	.	C	39	7.381482	0.98248	.	.	ENSG00000123240	ENST00000263036;ENST00000378764;ENST00000378757;ENST00000378752;ENST00000378748;ENST00000378747	.	.	.	6.16	6.16	0.99307	.	0.099240	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-22.7994	19.6313	0.95704	0.0:1.0:0.0:0.0	.	.	.	.	X	245;239;245;239;245;245	.	ENSP00000263036:Q245X	Q	+	1	0	OPTN	13201000	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	2.672000	0.46850	2.937000	0.99478	0.650000	0.86243	CAG		0.428	OPTN-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046834.1	NM_021980		T	13160994	C	T	13160994	4	4	775	1	0	0	0	0	0	1	0	0	10891	827	29	2	751	2	OPTN	10	13160994	Nonsense_Mutation	SNP	C	TCGA-P4-A5EB-01A-11D-A28G-10		13160994	122373753	75	45809											
KIAA1462	57608	hgsc.bcm.edu	37	10	30336674	30336674	+	Missense_Mutation	SNP	C	C	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr10:30336674C>T	ENST00000375377.1	-	2	169	c.68G>A	c.(67-69)cGc>cAc	p.R23H		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	23					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						GTTATCCTCGCGTGATGCTGG	0.607																																																0													73	79	77					10																	30336674		2036	4192	6228	SO:0001583	missense	57608			AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"junctional protein associated with coronary artery disease"	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.68G>A	chr10.hg19:g.30336674C>T	ENSP00000364526:p.Arg23His		Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	ENST00000375377.1	hg19	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	C	7.772	0.707679	0.15239	.	.	ENSG00000165757	ENST00000375377	T	0.11604	2.76	5.3	-1.25	0.09405	.	0.823638	0.10809	N	0.631817	T	0.03434	0.0099	N	0.03115	-0.41	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.46992	-0.9151	10	0.11794	T	0.64	-5.5506	5.0393	0.14451	0.0:0.4095:0.1523:0.4382	.	23	Q9P266	K1462_HUMAN	H	23	ENSP00000364526:R23H	ENSP00000364526:R23H	R	-	2	0	KIAA1462	30376680	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.154000	0.10130	-0.048000	0.13401	-0.373000	0.07131	CGC		0.607	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		T	30336674	C	T	30336674	3	4	775	1	0	0	0	0	1	0	0	0	8236	768	27	1	4023	1	KIAA1462	10	30336674	Missense_Mutation	SNP	C	TCGA-P4-A5EB-01A-11D-A28G-10	17175680	30336674	105198073	76	45810											
TYSND1	219743	hgsc.bcm.edu	37	10	71905802	71905819	+	In_Frame_Del	DEL	CTCTCAGTTGATCCGCCT	CTCTCAGTTGATCCGCCT	-	rs370610523|rs572542997|rs562289648|rs553877350	byFrequency	TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	CTCTCAGTTGATCCGCCT	CTCTCAGTTGATCCGCCT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr10:71905802_71905819delCTCTCAGTTGATCCGCCT	ENST00000287078.6	-	1	523_540	c.524_541delAGGCGGATCAACTGAGAG	c.(523-543)gaggcggatcaactgagagcg>gcg	p.EADQLR175del	TYSND1_ENST00000335494.5_In_Frame_Del_p.EADQLR175del|TYSND1_ENST00000494143.1_5'Flank	NM_173555.2	NP_775826.2	Q2T9J0	TYSD1_HUMAN	trypsin domain containing 1	175					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						CAGCCCAGCGCTCTCAGTTGATCCGCCTCCTCGTCCTC	0.711														5	0.000998403	0.0008	0.0	5008	,	,		14648	0.002		0.0	False		,,,				2504	0.002															0									,	1,4251		0,1,2125					,	3.9	1			26	18,8216		0,18,4099	no	coding,coding	TYSND1	NM_173555.2,NM_001040273.1	,	0,19,6224	A1A1,A1R,RR		0.2186,0.0235,0.1522	,	,		19,12467				SO:0001651	inframe_deletion	219743			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.524_541delAGGCGGATCAACTGAGAG	chr10.hg19:g.71905802_71905819delCTCTCAGTTGATCCGCCT	ENSP00000287078:p.Glu175_Arg180del		Q5SQT4|Q5SQU1|Q8N6H2|Q96AR5	In_Frame_Del	DEL	ENST00000287078.6	hg19	CCDS31213.1																																																																																				0.711	TYSND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048483.1	NM_173555		-	71905819	CTCTCAGTTGATCCGCCT	-	71905802	7	5	775	1	0	1	0	1	0	0	0	0	16822	797	28	0	1175	0	TYSND1	10	71905802	In_Frame_Del	DEL	CTCTCAGTTGATCCGCCT	TCGA-P4-A5EB-01A-11D-A28G-10	41569128	71905802	63628945	77	45811											
KNDC1	85442	hgsc.bcm.edu	37	10	135013012	135013012	+	Missense_Mutation	SNP	G	G	A			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr10:135013012G>A	ENST00000304613.3	+	15	2830	c.2809G>A	c.(2809-2811)Gcc>Acc	p.A937T	KNDC1_ENST00000368572.2_Missense_Mutation_p.A939T|KNDC1_ENST00000368571.2_Missense_Mutation_p.A872T			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	937					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)	p.A937T(1)		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)		TTTCTGTGGCGCCATTTCCGA	0.532																																																1	Substitution - Missense(1)	large_intestine(1)											177	150	159					10																	135013012		2203	4300	6503	SO:0001583	missense	85442			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.2809G>A	chr10.hg19:g.135013012G>A	ENSP00000304437:p.Ala937Thr		B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	hg19	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.244556	0.59103	.	.	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.12984	2.63;2.63;2.63	3.99	3.99	0.46301	.	0.479232	0.18727	N	0.132851	T	0.34571	0.0902	M	0.66939	2.045	0.41003	D	0.984944	D;D;D	0.89917	0.993;1.0;0.997	D;D;P	0.72338	0.919;0.977;0.74	T	0.18116	-1.0347	10	0.72032	D	0.01	-25.397	13.9012	0.63804	0.0:0.0:1.0:0.0	.	937;872;937	Q76NI1-4;Q76NI1-2;Q76NI1	.;.;VKIND_HUMAN	T	937;939;872	ENSP00000304437:A937T;ENSP00000357561:A939T;ENSP00000357560:A872T	ENSP00000304437:A937T	A	+	1	0	KNDC1	134863002	0.937000	0.31787	0.821000	0.32701	0.124000	0.20399	2.706000	0.47135	1.957000	0.56846	0.313000	0.20887	GCC		0.532	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		A	135013012	G	A	135013012	3	1	775	1	0	0	0	0	1	0	0	0	8428	1087	38	1	2867	1	KNDC1	10	135013012	Missense_Mutation	SNP	G	TCGA-P4-A5EB-01A-11D-A28G-10	63107210	135013012	521735	78	45812											
OR51D1	390038	hgsc.bcm.edu	37	11	4661643	4661643	+	Missense_Mutation	SNP	A	A	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr11:4661643A>T	ENST00000357605.2	+	1	699	c.623A>T	c.(622-624)aAt>aTt	p.N208I		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, 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)			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)		ACCAGGGTCAATGTGGTTTAT	0.468																																																0													290	242	259					11																	4661643		2201	4298	6499	SO:0001583	missense	390038			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.623A>T	chr11.hg19:g.4661643A>T	ENSP00000350222:p.Asn208Ile		B9EIK4	Missense_Mutation	SNP	ENST00000357605.2	hg19	CCDS31357.1	.	.	.	.	.	.	.	.	.	.	A	11.92	1.781247	0.31502	.	.	ENSG00000197428	ENST00000357605	T	0.00231	8.49	4.29	3.13	0.36017	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	D	0.000197	T	0.00580	0.0019	M	0.88906	2.99	0.43330	D	0.995366	P	0.44877	0.845	D	0.63793	0.918	T	0.66272	-0.5965	10	0.87932	D	0	.	9.16	0.37016	0.9102:0.0:0.0898:0.0	.	208	Q8NGF3	O51D1_HUMAN	I	208	ENSP00000350222:N208I	ENSP00000350222:N208I	N	+	2	0	OR51D1	4618219	0.644000	0.27277	0.752000	0.31206	0.008000	0.06430	1.567000	0.36407	0.752000	0.32923	0.460000	0.39030	AAT		0.468	OR51D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385956.1	NM_001004751		T	4661643	A	T	4661643	3	4	775	1	0	0	0	0	1	0	0	0	11095	101	4	5	625	5	OR51D1	11	4661643	Missense_Mutation	SNP	A	TCGA-P4-A5EB-01A-11D-A28G-10		4661643	130344873	79	45813											
EIF4G2	1982	hgsc.bcm.edu	37	11	10820842	10820842	+	Missense_Mutation	SNP	T	T	G			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr11:10820842T>G	ENST00000526148.1	-	20	2964	c.2454A>C	c.(2452-2454)aaA>aaC	p.K818N	SNORD97_ENST00000459187.1_RNA|EIF4G2_ENST00000339995.5_Missense_Mutation_p.K818N|RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000525681.1_Missense_Mutation_p.K818N|EIF4G2_ENST00000396525.2_Missense_Mutation_p.K780N	NM_001172705.1	NP_001166176			eukaryotic translation initiation factor 4 gamma, 2											NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CATGAAGAAATTTCTGCATTA	0.443																																																0													154	144	148					11																	10820842		2201	4294	6495	SO:0001583	missense	1982			U73824	CCDS31428.1, CCDS41618.1	11p15	2005-09-29			ENSG00000110321	ENSG00000110321			3297	protein-coding gene	gene with protein product		602325				9030685, 9032289	Standard	NM_001042559		Approved	DAP5, NAT1, p97	uc001mjc.3	P78344	OTTHUMG00000165823	ENST00000526148.1:c.2454A>C	chr11.hg19:g.10820842T>G	ENSP00000433664:p.Lys818Asn			Missense_Mutation	SNP	ENST00000526148.1	hg19	CCDS31428.1	.	.	.	.	.	.	.	.	.	.	T	19.81	3.896251	0.72639	.	.	ENSG00000110321	ENST00000526148;ENST00000525681;ENST00000339995;ENST00000396525;ENST00000429377;ENST00000528839;ENST00000379653	T;T;T;T	0.22743	1.94;1.94;1.94;1.96	6.07	0.912	0.19349	eIF4-gamma/eIF5/eIF2-epsilon (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.31040	0.0784	M	0.76727	2.345	0.53005	D	0.999965	P;D	0.63880	0.949;0.993	P;P	0.52109	0.493;0.69	T	0.47086	-0.9144	9	0.59425	D	0.04	-9.3023	8.4006	0.32583	0.0:0.5799:0.0:0.4201	.	818;891	P78344;B4DZF2	IF4G2_HUMAN;.	N	818;818;818;780;891;166;200	ENSP00000433664:K818N;ENSP00000433371:K818N;ENSP00000340281:K818N;ENSP00000379778:K780N	ENSP00000340281:K818N	K	-	3	2	EIF4G2	10777418	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.781000	0.26774	0.149000	0.19098	0.533000	0.62120	AAA		0.443	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1	NM_001418		G	10820842	T	G	10820842	3	3	775	1	0	0	0	0	1	0	0	0	5039	1490	52	5	281	5	EIF4G2	11	10820842	Missense_Mutation	SNP	T	TCGA-P4-A5EB-01A-11D-A28G-10	6159199	10820842	124185674	80	45814											
CKAP5	9793	hgsc.bcm.edu	37	11	46799004	46799004	+	Silent	SNP	G	G	C			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr11:46799004G>C	ENST00000529230.1	-	23	2893	c.2847C>G	c.(2845-2847)gtC>gtG	p.V949V	CKAP5_ENST00000312055.5_Silent_p.V949V|CKAP5_ENST00000354558.3_Silent_p.V949V|CKAP5_ENST00000415402.1_Silent_p.V949V			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	949					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TGTCTCCAAGGACTGTGATGA	0.413																																					Ovarian(4;85 273 2202 4844 13323)											0													137	125	129					11																	46799004		2201	4299	6500	SO:0001819	synonymous_variant	9793				CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.2847C>G	chr11.hg19:g.46799004G>C			Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Silent	SNP	ENST00000529230.1	hg19	CCDS31477.1																																																																																				0.413	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756		C	46799004	G	C	46799004	2	2	775	1	0	0	0	0	0	0	0	1	3447	1161	41	4		4	CKAP5	11	46799004	Silent	SNP	G	TCGA-P4-A5EB-01A-11D-A28G-10	35978162	46799004	88207512	81	45815											
NUP160	23279	hgsc.bcm.edu	37	11	47837537	47837537	+	Silent	SNP	A	A	G			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr11:47837537A>G	ENST00000378460.2	-	12	1522	c.1476T>C	c.(1474-1476)agT>agC	p.S492S	NUP160_ENST00000531016.1_5'UTR|NUP160_ENST00000528501.1_Silent_p.S56S|NUP160_ENST00000528071.1_Silent_p.S378S|NUP160_ENST00000530326.1_Silent_p.S378S	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	492					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)|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)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						TCTTCAGTTCACTCCAGGAAA	0.363																																																0													92	89	90					11																	47837537		2201	4298	6499	SO:0001819	synonymous_variant	23279			D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"nucleoporin 160kD"			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.1476T>C	chr11.hg19:g.47837537A>G			B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Silent	SNP	ENST00000378460.2	hg19	CCDS31484.1																																																																																				0.363	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390239.2	NM_015231		G	47837537	A	G	47837537	2	3	775	1	0	0	0	0	0	0	0	1	10759	156	6	3		3	NUP160	11	47837537	Silent	SNP	A	TCGA-P4-A5EB-01A-11D-A28G-10	1038533	47837537	87168979	82	45816											
PTPRJ	5795	hgsc.bcm.edu	37	11	48142728	48142728	+	Missense_Mutation	SNP	T	T	G			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr11:48142728T>G	ENST00000418331.2	+	4	878	c.526T>G	c.(526-528)Tta>Gta	p.L176V	PTPRJ_ENST00000440289.2_Missense_Mutation_p.L176V	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	176	Fibronectin type-III 1. {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						CATCACAGGCTTACGTCCAGC	0.423																																																0													163	147	153					11																	48142728		2201	4298	6499	SO:0001583	missense	5795			U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.526T>G	chr11.hg19:g.48142728T>G	ENSP00000400010:p.Leu176Val		Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Missense_Mutation	SNP	ENST00000418331.2	hg19	CCDS7945.1	.	.	.	.	.	.	.	.	.	.	T	16.53	3.149018	0.57151	.	.	ENSG00000149177	ENST00000278456;ENST00000418331;ENST00000440289;ENST00000534219	D;D;D	0.84800	-1.9;-1.9;-1.9	5.41	1.8	0.24995	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	D	0.89894	0.6847	M	0.75615	2.305	0.09310	N	1	D;D	0.71674	0.992;0.998	P;D	0.72338	0.908;0.977	T	0.78858	-0.2038	9	0.72032	D	0.01	.	6.633	0.22867	0.0:0.2796:0.0:0.7204	.	176;176	Q12913;Q6P4H4	PTPRJ_HUMAN;.	V	176;176;176;97	ENSP00000400010:L176V;ENSP00000409733:L176V;ENSP00000432686:L97V	ENSP00000278456:L176V	L	+	1	2	PTPRJ	48099304	0.000000	0.05858	0.014000	0.15608	0.075000	0.17131	-0.197000	0.09518	0.346000	0.23899	0.482000	0.46254	TTA		0.423	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1			G	48142728	T	G	48142728	3	3	775	1	0	0	0	0	1	0	0	0	12810	1606	56	5	540	5	PTPRJ	11	48142728	Missense_Mutation	SNP	T	TCGA-P4-A5EB-01A-11D-A28G-10	305191	48142728	86863788	83	45817											
ANKK1	255239	hgsc.bcm.edu	37	11	113265705	113265705	+	Missense_Mutation	SNP	A	A	C			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr11:113265705A>C	ENST00000303941.3	+	3	629	c.535A>C	c.(535-537)Atc>Ctc	p.I179L		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	179	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)		GATGCAGTACATCGAGAGGTC	0.552																																																0													52	51	51					11																	113265705		2003	4170	6173	SO:0001583	missense	255239			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.535A>C	chr11.hg19:g.113265705A>C	ENSP00000306678:p.Ile179Leu			Missense_Mutation	SNP	ENST00000303941.3	hg19	CCDS44734.1	.	.	.	.	.	.	.	.	.	.	A	7.078	0.569692	0.13560	.	.	ENSG00000170209	ENST00000303941	D	0.82167	-1.58	4.25	3.11	0.35812	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.52532	U	0.000079	T	0.76786	0.4036	L	0.27053	0.805	0.42141	D	0.991513	P	0.43231	0.801	P	0.48089	0.566	T	0.72301	-0.4334	10	0.34782	T	0.22	-24.2177	9.4598	0.38778	0.8415:0.0:0.0:0.1585	.	179	Q8NFD2	ANKK1_HUMAN	L	179	ENSP00000306678:I179L	ENSP00000306678:I179L	I	+	1	0	ANKK1	112770915	0.995000	0.38212	0.250000	0.24296	0.020000	0.10135	3.696000	0.54757	0.654000	0.30846	-1.026000	0.02426	ATC		0.552	ANKK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395830.1	NM_178510		C	113265705	A	C	113265705	3	2	775	1	0	0	0	0	1	0	0	0	631	217	8	5	545	5	ANKK1	11	113265705	Missense_Mutation	SNP	A	TCGA-P4-A5EB-01A-11D-A28G-10	65122977	113265705	21740811	84	45818											
B4GALNT3	283358	hgsc.bcm.edu	37	12	660177	660177	+	Missense_Mutation	SNP	C	C	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr12:660177C>T	ENST00000266383.5	+	11	1100	c.1087C>T	c.(1087-1089)Cgc>Tgc	p.R363C		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	363					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)			TCCTCTGCAGCGCTACCAGGG	0.607																																																0													172	151	158					12																	660177		2203	4300	6503	SO:0001583	missense	283358			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.1087C>T	chr12.hg19:g.660177C>T	ENSP00000266383:p.Arg363Cys		Q6ZNC1|Q8N7T6	Missense_Mutation	SNP	ENST00000266383.5	hg19	CCDS8504.1	.	.	.	.	.	.	.	.	.	.	C	31	5.064455	0.93898	.	.	ENSG00000139044	ENST00000266383;ENST00000322843	T;T	0.72725	-0.68;-0.68	5.22	5.22	0.72569	.	0.107194	0.64402	D	0.000004	D	0.84428	0.5470	M	0.77313	2.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.68621	0.959;0.926	D	0.86089	0.1549	10	0.87932	D	0	-22.1916	18.9627	0.92682	0.0:1.0:0.0:0.0	.	265;363	E9PHD9;Q6L9W6	.;B4GN3_HUMAN	C	363;265	ENSP00000266383:R363C;ENSP00000322953:R265C	ENSP00000266383:R363C	R	+	1	0	B4GALNT3	530438	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.267000	0.65530	2.715000	0.92844	0.655000	0.94253	CGC		0.607	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593		T	660177	C	T	660177	3	4	775	1	0	0	0	0	1	0	0	0	1268	768	27	1	1129	1	B4GALNT3	12	660177	Missense_Mutation	SNP	C	TCGA-P4-A5EB-01A-11D-A28G-10		660177	133191718	85	45819											
LRTM2	654429	hgsc.bcm.edu	37	12	1940301	1940301	+	Missense_Mutation	SNP	A	A	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr12:1940301A>T	ENST00000543818.1	+	4	1110	c.268A>T	c.(268-270)Aac>Tac	p.N90Y	LRTM2_ENST00000299194.1_Missense_Mutation_p.N90Y|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000585708.1_Intron|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000585732.1_Intron|LRTM2_ENST00000535041.1_Missense_Mutation_p.N90Y|LRTM2_ENST00000543730.1_Intron|CACNA2D4_ENST00000382722.5_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	90						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)			GGCTTTCGCCAACCTCTCCAG	0.617																																																0													57	65	62					12																	1940301		2203	4300	6503	SO:0001583	missense	654429			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.268A>T	chr12.hg19:g.1940301A>T	ENSP00000446278:p.Asn90Tyr		A7E2U6	Missense_Mutation	SNP	ENST00000543818.1	hg19	CCDS31726.1	.	.	.	.	.	.	.	.	.	.	A	17.40	3.379726	0.61845	.	.	ENSG00000166159	ENST00000543818;ENST00000299194;ENST00000535041;ENST00000546167;ENST00000543694	T;T;T;D;D	0.85013	0.52;0.52;0.52;-1.93;-1.93	5.04	3.87	0.44632	.	0.000000	0.85682	D	0.000000	D	0.88224	0.6379	L	0.54323	1.7	0.58432	D	0.999996	D	0.59357	0.985	P	0.61328	0.887	D	0.87459	0.2406	10	0.62326	D	0.03	.	10.9074	0.47088	0.925:0.0:0.075:0.0	.	90	Q8N967	LRTM2_HUMAN	Y	90	ENSP00000446278:N90Y;ENSP00000299194:N90Y;ENSP00000444737:N90Y;ENSP00000438678:N90Y;ENSP00000444104:N90Y	ENSP00000299194:N90Y	N	+	1	0	LRTM2	1810562	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.182000	0.58310	0.748000	0.32831	0.459000	0.35465	AAC		0.617	LRTM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398055.1			T	1940301	A	T	1940301	3	4	775	1	0	0	0	0	1	0	0	0	9047	130	5	5	274	5	LRTM2	12	1940301	Missense_Mutation	SNP	A	TCGA-P4-A5EB-01A-11D-A28G-10	1280124	1940301	131911594	86	45820											
WBP11	51729	hgsc.bcm.edu	37	12	14943406	14943406	+	Silent	SNP	A	A	G			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr12:14943406A>G	ENST00000261167.2	-	10	1526	c.1293T>C	c.(1291-1293)ccT>ccC	p.P431P		NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	431	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein phosphatase type 1 regulator activity (GO:0008599)|single-stranded DNA binding (GO:0003697)|WW domain binding (GO:0050699)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						GTGGACCAGGAGGAAGGCCTG	0.473																																																0													99	103	102					12																	14943406		2203	4300	6503	SO:0001819	synonymous_variant	51729			AB029309	CCDS8666.1	12p12.3	2014-06-13			ENSG00000084463	ENSG00000084463			16461	protein-coding gene	gene with protein product	"splicing factor, PQBP1 and PP1 interacting", "protein phosphatase 1, regulatory subunit 165"					10593949	Standard	NM_016312		Approved	NPWBP, SIPP1, PPP1R165	uc001rci.3	Q9Y2W2	OTTHUMG00000168737	ENST00000261167.2:c.1293T>C	chr12.hg19:g.14943406A>G			Q96AY8	Silent	SNP	ENST00000261167.2	hg19	CCDS8666.1																																																																																				0.473	WBP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400850.1	NM_016312		G	14943406	A	G	14943406	2	3	775	1	0	0	0	0	0	0	0	1	17263	291	11	3		3	WBP11	12	14943406	Silent	SNP	A	TCGA-P4-A5EB-01A-11D-A28G-10	13003105	14943406	118908489	87	45821											
KCNH3	23416	hgsc.bcm.edu	37	12	49944077	49944077	+	Missense_Mutation	SNP	A	A	C			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr12:49944077A>C	ENST00000257981.6	+	10	2143	c.1883A>C	c.(1882-1884)gAg>gCg	p.E628A		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	628					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						GGCTCCATGGAGGTGCTCAAG	0.647																																																0													73	66	68					12																	49944077		2203	4300	6503	SO:0001583	missense	23416			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.1883A>C	chr12.hg19:g.49944077A>C	ENSP00000257981:p.Glu628Ala		Q9UQ06	Missense_Mutation	SNP	ENST00000257981.6	hg19	CCDS8786.1	.	.	.	.	.	.	.	.	.	.	A	31	5.069017	0.93950	.	.	ENSG00000135519	ENST00000257981	D	0.93307	-3.2	5.48	5.48	0.80851	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.48767	D	0.000161	D	0.96620	0.8897	M	0.84219	2.685	0.58432	D	0.999997	D	0.76494	0.999	D	0.87578	0.998	D	0.97133	0.9819	10	0.87932	D	0	.	13.8224	0.63331	1.0:0.0:0.0:0.0	.	628	Q9ULD8	KCNH3_HUMAN	A	628	ENSP00000257981:E628A	ENSP00000257981:E628A	E	+	2	0	KCNH3	48230344	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.224000	0.72417	0.533000	0.62120	GAG		0.647	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2	NM_012284		C	49944077	A	C	49944077	3	2	775	1	0	0	0	0	1	0	0	0	8035	304	11	5	1921	5	KCNH3	12	49944077	Missense_Mutation	SNP	A	TCGA-P4-A5EB-01A-11D-A28G-10	35000671	49944077	83907818	88	45822											
CSAD	51380	hgsc.bcm.edu	37	12	53554015	53554015	+	Missense_Mutation	SNP	T	T	C			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr12:53554015T>C	ENST00000444623.1	-	14	1322	c.1055A>G	c.(1054-1056)aAg>aGg	p.K352R	CSAD_ENST00000379846.1_Missense_Mutation_p.K205R|CSAD_ENST00000453446.2_Missense_Mutation_p.K352R|CSAD_ENST00000267085.4_Missense_Mutation_p.K379R|CSAD_ENST00000379843.3_Missense_Mutation_p.K205R|RP11-1136G11.8_ENST00000550908.1_lincRNA	NM_001244705.1	NP_001231634.1	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	352					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)|taurine biosynthetic process (GO:0042412)		pyridoxal phosphate binding (GO:0030170)|sulfinoalanine decarboxylase activity (GO:0004782)			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)	CTGCACCACCTTGTCTCCCGT	0.612																																					Ovarian(109;252 1546 16882 28524 44645)											0													117	104	108					12																	53554015		2203	4300	6503	SO:0001583	missense	51380			AB044561	CCDS8848.2, CCDS58235.1	12q13.11-q14.3	2008-08-04			ENSG00000139631	ENSG00000139631			18966	protein-coding gene	gene with protein product	"P-selectin cytoplasmic tail-associated protein"					15489334	Standard	NM_015989		Approved	PCAP, CSD	uc001sbz.3	Q9Y600	OTTHUMG00000048076	ENST00000444623.1:c.1055A>G	chr12.hg19:g.53554015T>C	ENSP00000415485:p.Lys352Arg		A8K0U4|Q4QQH9|Q9UNJ5|Q9Y601	Missense_Mutation	SNP	ENST00000444623.1	hg19	CCDS58235.1	.	.	.	.	.	.	.	.	.	.	T	33	5.207752	0.95033	.	.	ENSG00000139631	ENST00000308926;ENST00000379843;ENST00000267085;ENST00000379846;ENST00000444623;ENST00000398047;ENST00000453446	T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04	4.67	4.67	0.58626	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.047421	0.85682	D	0.000000	T	0.59376	0.2189	L	0.61387	1.9	0.80722	D	1	D;D;P	0.69078	0.997;0.994;0.871	D;D;B	0.68765	0.96;0.96;0.247	T	0.62062	-0.6933	10	0.56958	D	0.05	-26.8125	13.5402	0.61671	0.0:0.0:0.0:1.0	.	379;352;205	Q9Y600-3;Q9Y600;Q9Y600-2	.;CSAD_HUMAN;.	R	441;205;379;205;352;313;352	ENSP00000369172:K205R;ENSP00000267085:K379R;ENSP00000369175:K205R;ENSP00000415485:K352R;ENSP00000410648:K352R	ENSP00000267085:K379R	K	-	2	0	CSAD	51840282	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.430000	0.80321	2.100000	0.63781	0.533000	0.62120	AAG		0.612	CSAD-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343697.1	NM_015989		C	53554015	T	C	53554015	3	2	775	1	0	0	0	0	1	0	0	0	3927	1609	56	3	442	3	CSAD	12	53554015	Missense_Mutation	SNP	T	TCGA-P4-A5EB-01A-11D-A28G-10	3609938	53554015	80297880	89	45823											
GPR84	53831	hgsc.bcm.edu	37	12	54756649	54756649	+	Silent	SNP	G	G	A			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr12:54756649G>A	ENST00000551809.1	-	1	1622	c.987C>T	c.(985-987)gcC>gcT	p.A329A	GPR84_ENST00000267015.3_Silent_p.A329A|RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	329						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						TGTAGCTCAGGGCAAAGCAGA	0.537																																																0													139	138	138					12																	54756649		2203	4300	6503	SO:0001819	synonymous_variant	53831			AF237762	CCDS8878.1	12q13.13	2012-08-20						"GPCR / Class A : Fatty acid receptors"	4535	protein-coding gene	gene with protein product		606383				11273702	Standard	NM_020370		Approved	EX33	uc001sfu.3	Q9NQS5		ENST00000551809.1:c.987C>T	chr12.hg19:g.54756649G>A			B6V9G7	Silent	SNP	ENST00000551809.1	hg19	CCDS8878.1																																																																																				0.537	GPR84-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406156.1			A	54756649	G	A	54756649	2	1	775	1	0	0	0	0	0	0	0	1	6716	1219	43	2		2	GPR84	12	54756649	Silent	SNP	G	TCGA-P4-A5EB-01A-11D-A28G-10	1202634	54756649	79095246	90	45824											
SMARCC2	6601	hgsc.bcm.edu	37	12	56578005	56578005	+	Missense_Mutation	SNP	G	G	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr12:56578005G>T	ENST00000267064.4	-	6	602	c.516C>A	c.(514-516)aaC>aaA	p.N172K	SMARCC2_ENST00000550859.1_5'UTR|SMARCC2_ENST00000347471.4_Missense_Mutation_p.N172K|SMARCC2_ENST00000550164.1_Missense_Mutation_p.N172K|SMARCC2_ENST00000394023.3_Missense_Mutation_p.N172K|RP11-977G19.5_ENST00000553176.1_RNA	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	172					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)			GGGAGGCATTGTTCTTATCCT	0.498																																																0													116	94	101					12																	56578005		2203	4300	6503	SO:0001583	missense	6601			U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.516C>A	chr12.hg19:g.56578005G>T	ENSP00000267064:p.Asn172Lys		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Missense_Mutation	SNP	ENST00000267064.4	hg19	CCDS8907.1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.028067	0.35797	.	.	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000347471;ENST00000267064	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	5.38	4.49	0.54785	BRCT (1);	0.717108	0.14170	N	0.336810	T	0.28067	0.0692	N	0.04508	-0.205	0.22610	N	0.998937	B;B;B;B;B	0.18310	0.016;0.027;0.016;0.016;0.027	B;B;B;B;B	0.17098	0.007;0.017;0.007;0.007;0.017	T	0.14504	-1.0470	10	0.25751	T	0.34	-3.7705	7.6019	0.28081	0.2492:0.0:0.7508:0.0	.	61;172;177;172;172	B4DF22;F8VTJ5;Q59G16;Q8TAQ2;Q8TAQ2-2	.;.;.;SMRC2_HUMAN;.	K	172	ENSP00000377591:N172K;ENSP00000449396:N172K;ENSP00000302919:N172K;ENSP00000267064:N172K	ENSP00000267064:N172K	N	-	3	2	SMARCC2	54864272	0.956000	0.32656	0.998000	0.56505	0.994000	0.84299	1.519000	0.35888	1.412000	0.46977	0.561000	0.74099	AAC		0.498	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			T	56578005	G	T	56578005	3	4	775	1	0	0	0	0	1	0	0	0	14782	1368	48	4	3317	4	SMARCC2	12	56578005	Missense_Mutation	SNP	G	TCGA-P4-A5EB-01A-11D-A28G-10	1821356	56578005	77273890	91	45825											
APAF1	317	hgsc.bcm.edu	37	12	99093184	99093184	+	Splice_Site	SNP	A	A	C			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr12:99093184A>C	ENST00000551964.1	+	17	3040		c.e17-1		APAF1_ENST00000333991.1_Intron|APAF1_ENST00000550527.1_Splice_Site|APAF1_ENST00000357310.1_Splice_Site|APAF1_ENST00000549007.1_Splice_Site|APAF1_ENST00000339433.3_Splice_Site|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000359972.2_Splice_Site|APAF1_ENST00000547045.1_Splice_Site	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1						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)	TTTAATTCAAAGCTTTGGGAT	0.323																																																0													52	51	51					12																	99093184		2203	4300	6503	SO:0001630	splice_region_variant	317			AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"WD repeat domain containing"	576	protein-coding gene	gene with protein product		602233	"apoptotic protease activating factor", "apoptotic peptidase activating factor"			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.2305-1A>C	chr12.hg19:g.99093184A>C			B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Splice_Site	SNP	ENST00000551964.1	hg19	CCDS9069.1	.	.	.	.	.	.	.	.	.	.	A	14.65	2.598135	0.46318	.	.	ENSG00000120868	ENST00000551964;ENST00000359972;ENST00000357310;ENST00000339433;ENST00000550527;ENST00000547045;ENST00000549007	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5583	0.61773	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	APAF1	97617315	1.000000	0.71417	0.949000	0.38748	0.676000	0.39594	7.031000	0.76491	2.186000	0.69663	0.533000	0.62120	.		0.323	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	NM_181861.1	Intron	C	99093184	A	C	99093184	5	2	775	1	0	0	0	0	0	0	1	0	755	86	3	5	2365	5	APAF1	12	99093184	Splice_Site	SNP	A	TCGA-P4-A5EB-01A-11D-A28G-10	42515179	99093184	34758711	92	45826											
MLEC	9761	hgsc.bcm.edu	37	12	121132908	121132908	+	Frame_Shift_Del	DEL	A	A	-			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr12:121132908delA	ENST00000228506.3	+	4	1030	c.602delA	c.(601-603)gacfs	p.D201fs	MLEC_ENST00000412616.2_Intron|RP11-173P15.3_ENST00000541383.1_RNA	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin	201					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|enzyme binding (GO:0019899)	p.D201G(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						GGGTACTATGACAATCCCAAG	0.498																																																1	Substitution - Missense(1)	lung(1)											381	352	362					12																	121132908		2203	4300	6503	SO:0001589	frameshift_variant	9761			BC000371	CCDS9206.1	12q24.31	2013-03-06	2008-11-05	2008-11-05	ENSG00000110917	ENSG00000110917			28973	protein-coding gene	gene with protein product	"oligosaccharyltransferase complex subunit (non-catalytic)"	613802	"KIAA0152"	KIAA0152		18524852	Standard	NM_014730		Approved		uc001tyy.1	Q14165	OTTHUMG00000169187	ENST00000228506.3:c.602delA	chr12.hg19:g.121132908delA	ENSP00000228506:p.Asp201fs			Frame_Shift_Del	DEL	ENST00000228506.3	hg19	CCDS9206.1																																																																																				0.498	MLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402781.2	NM_014730		-	121132908	A	-	121132908	7	5	775	1	0	1	0	1	0	0	0	0	9615	275	10	0	616	0	MLEC	12	121132908	Frame_Shift_Del	DEL	A	TCGA-P4-A5EB-01A-11D-A28G-10	22039724	121132908	12718987	93	45827											
DCLK1	9201	hgsc.bcm.edu	37	13	36383187	36383187	+	Silent	SNP	A	A	G			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr13:36383187A>G	ENST00000360631.3	-	13	1945	c.1734T>C	c.(1732-1734)taT>taC	p.Y578Y	DCLK1_ENST00000379893.1_Silent_p.Y271Y|DCLK1_ENST00000255448.4_Silent_p.Y578Y			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	578	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)		ACAGCAGGATATAAGTGATTA	0.473																																																0													101	88	92					13																	36383187		2203	4300	6503	SO:0001819	synonymous_variant	9201			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.1734T>C	chr13.hg19:g.36383187A>G			B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Silent	SNP	ENST00000360631.3	hg19																																																																																					0.473	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734		G	36383187	A	G	36383187	2	3	775	1	0	0	0	0	0	0	0	1	4293	456	16	3		3	DCLK1	13	36383187	Silent	SNP	A	TCGA-P4-A5EB-01A-11D-A28G-10		36383187	78786691	94	45828											
UGGT2	55757	hgsc.bcm.edu	37	13	96684163	96684163	+	Missense_Mutation	SNP	A	A	G			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr13:96684163A>G	ENST00000376747.3	-	2	291	c.221T>C	c.(220-222)tTa>tCa	p.L74S	UGGT2_ENST00000397618.3_Missense_Mutation_p.L74S|UGGT2_ENST00000376714.3_Missense_Mutation_p.L74S|UGGT2_ENST00000376712.4_Missense_Mutation_p.L74S	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	74					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						ATAAATTGCTAATTCTTGCAC	0.259																																																0													59	62	61					13																	96684163		2198	4277	6475	SO:0001583	missense	55757			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.221T>C	chr13.hg19:g.96684163A>G	ENSP00000365938:p.Leu74Ser		A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Missense_Mutation	SNP	ENST00000376747.3	hg19	CCDS9480.1	.	.	.	.	.	.	.	.	.	.	A	18.23	3.578856	0.65878	.	.	ENSG00000102595	ENST00000376747;ENST00000376722;ENST00000376714;ENST00000397618;ENST00000376712	T;T	0.32272	3.07;1.46	5.93	5.93	0.95920	.	0.075675	0.56097	D	0.000039	T	0.61565	0.2357	M	0.84683	2.71	0.53688	D	0.999975	D;D;P	0.89917	1.0;1.0;0.937	D;D;P	0.91635	0.999;0.999;0.512	T	0.67772	-0.5584	10	0.87932	D	0	-7.6383	16.3943	0.83563	1.0:0.0:0.0:0.0	.	74;74;74	Q2TAA6;E7EMU6;Q9NYU1	.;.;UGGG2_HUMAN	S	74	ENSP00000365938:L74S;ENSP00000380743:L74S	ENSP00000365902:L74S	L	-	2	0	UGGT2	95482164	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.701000	0.84566	2.281000	0.76405	0.533000	0.62120	TTA		0.259	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121		G	96684163	A	G	96684163	3	3	775	1	0	0	0	0	1	0	0	0	16947	372	13	3	4481	3	UGGT2	13	96684163	Missense_Mutation	SNP	A	TCGA-P4-A5EB-01A-11D-A28G-10	60300976	96684163	18485715	95	45829											
RPGRIP1	57096	hgsc.bcm.edu	37	14	21769308	21769308	+	Silent	SNP	C	C	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr14:21769308C>T	ENST00000400017.2	+	3	402	c.402C>T	c.(400-402)gcC>gcT	p.A134A	RPGRIP1_ENST00000557771.1_Silent_p.A134A|RPGRIP1_ENST00000206660.6_Silent_p.A134A|RPGRIP1_ENST00000556336.1_Silent_p.A134A	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	134					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)		TCGGCCCTGCCAGCCCCCGCC	0.682																																																0													10	14	13					14																	21769308		1990	4127	6117	SO:0001819	synonymous_variant	57096			AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.402C>T	chr14.hg19:g.21769308C>T			Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Silent	SNP	ENST00000400017.2	hg19	CCDS45080.1																																																																																				0.682	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410258.1	NM_020366		T	21769308	C	T	21769308	2	4	775	1	0	0	0	0	0	0	0	1	13555	581	21	2		2	RPGRIP1	14	21769308	Silent	SNP	C	TCGA-P4-A5EB-01A-11D-A28G-10		21769308	85580232	96	45830											
EFS	10278	hgsc.bcm.edu	37	14	23828918	23828918	+	Silent	SNP	G	G	A			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr14:23828918G>A	ENST00000216733.3	-	4	1376	c.769C>T	c.(769-771)Ctg>Ttg	p.L257L	EFS_ENST00000429593.2_Intron|RP11-124D2.3_ENST00000554010.1_RNA|EFS_ENST00000351354.3_Silent_p.L164L	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	257	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)		GGCCCCAGCAGAGGCACATCG	0.642																																																0													37	45	42					14																	23828918		2203	4300	6503	SO:0001819	synonymous_variant	10278			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.769C>T	chr14.hg19:g.23828918G>A			B2RAJ7|B4DJ56|E9PGU2|O43282	Silent	SNP	ENST00000216733.3	hg19	CCDS9595.1																																																																																				0.642	EFS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071770.2			A	23828918	G	A	23828918	2	1	775	1	0	0	0	0	0	0	0	1	4961	933	33	2		2	EFS	14	23828918	Silent	SNP	G	TCGA-P4-A5EB-01A-11D-A28G-10	2059610	23828918	83520622	97	45831											
PPIL5	122769	hgsc.bcm.edu	37	14	50081041	50081041	+	Missense_Mutation	SNP	G	G	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr14:50081041G>T	ENST00000298288.6	+	4	1396	c.1072G>T	c.(1072-1074)Gtt>Ttt	p.V358F	LRR1_ENST00000318317.4_Missense_Mutation_p.C117F	NM_152329.3	NP_689542.2	Q96L50	LLR1_HUMAN	leucine rich repeat protein 1	358					protein ubiquitination (GO:0016567)					kidney(2)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						AAAAATTTGTGTTTGTGGAAG	0.368																																																0													117	111	113					14																	50081041		2203	4300	6503	SO:0001583	missense	122769			BC030142	CCDS9686.1, CCDS9687.1	14q21.3	2011-02-02	2011-02-02	2011-02-02	ENSG00000165501	ENSG00000165501			19742	protein-coding gene	gene with protein product	"LRR-repeat protein 1"	609193	"peptidylprolyl isomerase (cyclophilin)-like 5"	PPIL5		11804328, 21074724	Standard	NR_037792		Approved	MGC20689, LRR-1	uc001wwn.3	Q96L50	OTTHUMG00000140273	ENST00000298288.6:c.1072G>T	chr14.hg19:g.50081041G>T	ENSP00000298288:p.Val358Phe		A5D6X3|B4DDE0|Q52M24|Q86SZ1|Q8N6H9	Missense_Mutation	SNP	ENST00000298288.6	hg19	CCDS9686.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.98|12.98	2.100514|2.100514	0.37048|0.37048	.|.	.|.	ENSG00000165501|ENSG00000165501	ENST00000318317|ENST00000298288	.|T	.|0.42513	.|0.97	5.55|5.55	3.74|3.74	0.42951|0.42951	.|.	.|0.342603	.|0.30820	.|N	.|0.008808	T|T	0.29850|0.29850	0.0746|0.0746	L|L	0.48642|0.48642	1.525|1.525	0.23050|0.23050	N|N	0.998374|0.998374	P|P	0.48503|0.37864	0.911|0.61	B|B	0.42282|0.30646	0.382|0.118	T|T	0.12785|0.12785	-1.0534|-1.0534	7|10	.|0.33940	.|T	.|0.23	-1.8537|-1.8537	8.4558|8.4558	0.32899|0.32899	0.149:0.1617:0.6893:0.0|0.149:0.1617:0.6893:0.0	.|.	117|358	Q96L50-2|Q96L50	.|LLR1_HUMAN	F|F	117|358	.|ENSP00000298288:V358F	.|ENSP00000298288:V358F	C|V	+|+	2|1	0|0	LRR1|LRR1	49150791|49150791	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.566000|0.566000	0.35808|0.35808	4.799000|4.799000	0.62517|0.62517	0.839000|0.839000	0.34971|0.34971	-0.142000|-0.142000	0.14014|0.14014	TGT|GTT		0.368	LRR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410790.1	NM_203467		T	50081041	G	T	50081041	3	4	775	1	0	0	0	0	1	0	0	0	12335	1377	48	4	1086	4	PPIL5	14	50081041	Missense_Mutation	SNP	G	TCGA-P4-A5EB-01A-11D-A28G-10	26252123	50081041	57268499	98	45832											
PPP2R5E	5529	hgsc.bcm.edu	37	14	63881922	63881922	+	Frame_Shift_Del	DEL	A	A	-			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr14:63881922delA	ENST00000337537.3	-	5	1087	c.485delT	c.(484-486)ttgfs	p.L162fs	PPP2R5E_ENST00000553266.1_5'UTR|PPP2R5E_ENST00000422769.2_Frame_Shift_Del_p.L86fs|PPP2R5E_ENST00000555899.1_Frame_Shift_Del_p.L162fs	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	162					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)		TTGGCTTTCCAAAAATCGTAT	0.313																																																0													87	91	90					14																	63881922		2202	4298	6500	SO:0001589	frameshift_variant	5529			L76703	CCDS9758.1, CCDS61467.1, CCDS61468.1	14q23.2	2010-06-18	2007-01-22		ENSG00000154001	ENSG00000154001		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9313	protein-coding gene	gene with protein product		601647	"protein phosphatase 2, regulatory subunit B (B56), epsilon isoform"			7592815	Standard	NM_006246		Approved		uc001xgd.1	Q16537	OTTHUMG00000140341	ENST00000337537.3:c.485delT	chr14.hg19:g.63881922delA	ENSP00000337641:p.Leu162fs		A4FU37|B7ZAW5|B7ZKK8|B7ZKK9|J3KQN6|Q52LW4	Frame_Shift_Del	DEL	ENST00000337537.3	hg19	CCDS9758.1																																																																																				0.313	PPP2R5E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276973.1	NM_006246		-	63881922	A	-	63881922	7	5	775	1	0	1	0	1	0	0	0	0	12401	131	5	0	958	0	PPP2R5E	14	63881922	Frame_Shift_Del	DEL	A	TCGA-P4-A5EB-01A-11D-A28G-10	13800881	63881922	43467618	99	45833											
FAM164C	79696	hgsc.bcm.edu	37	14	75537677	75537677	+	Missense_Mutation	SNP	G	G	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr14:75537677G>T	ENST00000524913.1	+	2	890	c.401G>T	c.(400-402)gGa>gTa	p.G134V	ZC2HC1C_ENST00000439583.2_Missense_Mutation_p.G134V|ZC2HC1C_ENST00000238686.8_Missense_Mutation_p.G134V|ZC2HC1C_ENST00000526748.1_Intron|ACYP1_ENST00000555463.1_5'Flank	NM_024643.2	NP_078919.2	Q53FD0	ZC21C_HUMAN	zinc finger, C2HC-type containing 1C	134							metal ion binding (GO:0046872)										AAACGAGTTGGAGTGGACCGG	0.522																																																0													98	96	97					14																	75537677		1869	4100	5969	SO:0001583	missense	79696			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.401G>T	chr14.hg19:g.75537677G>T	ENSP00000435550:p.Gly134Val		E9PJQ0|Q9BTA8|Q9H5S9	Missense_Mutation	SNP	ENST00000524913.1	hg19	CCDS41972.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.02|15.02	2.709290|2.709290	0.48517|0.48517	.|.	.|.	ENSG00000119703|ENSG00000119703	ENST00000532198|ENST00000524913;ENST00000238686;ENST00000554763;ENST00000439583;ENST00000526130	.|T	.|0.76578	.|-1.03	4.53|4.53	4.53|4.53	0.55603|0.55603	.|.	.|0.080328	.|0.49916	.|D	.|0.000121	.|D	.|0.87111	.|0.6096	M|M	0.72118|0.72118	2.19|2.19	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	.|0.87264	.|0.2281	.|9	.|.	.|.	.|.	-17.5211|-17.5211	17.4741|17.4741	0.87655|0.87655	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|134;134	.|Q53FD0;E9PJQ0	.|F164C_HUMAN;.	X|V	1|134	.|ENSP00000435550:G134V	.|.	E|G	+|+	1|2	0|0	FAM164C|FAM164C	74607430|74607430	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.325000|0.325000	0.28411|0.28411	6.888000|6.888000	0.75622|0.75622	2.356000|2.356000	0.79943|0.79943	0.557000|0.557000	0.71058|0.71058	GAG|GGA		0.522	ZC2HC1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394616.4	NM_001042430		T	75537677	G	T	75537677	3	4	775	1	0	0	0	0	1	0	0	0	5481	1174	41	4	403	4	FAM164C	14	75537677	Missense_Mutation	SNP	G	TCGA-P4-A5EB-01A-11D-A28G-10	11655755	75537677	31811863	100	45834											
DYNC1H1	1778	hgsc.bcm.edu	37	14	102478240	102478240	+	Missense_Mutation	SNP	T	T	C			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr14:102478240T>C	ENST00000360184.4	+	33	6811	c.6647T>C	c.(6646-6648)aTc>aCc	p.I2216T		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2216	AAA 2. {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						ATCACCCAGATCAATCATGGC	0.602																																																0													86	74	78					14																	102478240		2203	4300	6503	SO:0001583	missense	1778			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.6647T>C	chr14.hg19:g.102478240T>C	ENSP00000348965:p.Ile2216Thr		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	hg19	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	T	18.82	3.705776	0.68615	.	.	ENSG00000197102	ENST00000360184	T	0.27402	1.67	5.8	5.8	0.92144	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.33265	0.0857	L	0.44542	1.39	0.80722	D	1	P	0.45348	0.856	P	0.44394	0.448	T	0.03423	-1.1038	10	0.40728	T	0.16	.	16.1547	0.81649	0.0:0.0:0.0:1.0	.	2216	Q14204	DYHC1_HUMAN	T	2216	ENSP00000348965:I2216T	ENSP00000348965:I2216T	I	+	2	0	DYNC1H1	101547993	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	7.991000	0.88244	2.221000	0.72209	0.528000	0.53228	ATC		0.602	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		C	102478240	T	C	102478240	3	2	775	1	0	0	0	0	1	0	0	0	4843	1435	50	3	6777	3	DYNC1H1	14	102478240	Missense_Mutation	SNP	T	TCGA-P4-A5EB-01A-11D-A28G-10	26940563	102478240	4871300	101	45835											
TRIM69	140691	hgsc.bcm.edu	37	15	45048565	45048565	+	Splice_Site	SNP	G	G	C			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr15:45048565G>C	ENST00000559390.1	+	4	1411		c.e4-1		TRIM69_ENST00000558173.1_Splice_Site|TRIM69_ENST00000329464.4_Splice_Site|TRIM69_ENST00000558329.1_Splice_Site|TRIM69_ENST00000560442.1_Splice_Site|TRIM69_ENST00000338264.4_Splice_Site|TRIM69_ENST00000561043.1_Splice_Site			Q86WT6	TRI69_HUMAN	tripartite motif containing 69						apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		GATATTCCCAGGAGGAGCTTG	0.488																																					Pancreas(84;519 1450 1802 20427 34706)											0													41	39	40					15																	45048565		1927	3624	5551	SO:0001630	splice_region_variant	140691			AF302088	CCDS10114.1, CCDS32220.1, CCDS73719.1	15q15-q21	2013-01-09	2011-01-25	2006-09-26	ENSG00000185880	ENSG00000185880		"RING-type (C3HC4) zinc fingers", "Tripartite motif containing / Tripartite motif containing"	17857	protein-coding gene	gene with protein product			"ring finger protein 36", "tripartite motif-containing 69"	RNF36			Standard	XM_005254162		Approved	Trif, TRIMLESS	uc001zug.1	Q86WT6	OTTHUMG00000131246	ENST00000559390.1:c.484-1G>C	chr15.hg19:g.45048565G>C			A8MX03|Q309B0|Q4G1A5|Q6W897|Q8IYY3|Q8WY16|Q8WY17	Splice_Site	SNP	ENST00000559390.1	hg19	CCDS32220.1	.	.	.	.	.	.	.	.	.	.	G	10.44	1.350808	0.24512	.	.	ENSG00000185880	ENST00000329464;ENST00000338264	.	.	.	5.34	4.43	0.53597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9849	0.53142	0.0847:0.0:0.9153:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TRIM69	42835857	1.000000	0.71417	0.995000	0.50966	0.200000	0.23975	4.849000	0.62882	1.391000	0.46566	0.655000	0.94253	.		0.488	TRIM69-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416171.1		Intron	C	45048565	G	C	45048565	5	2	775	1	0	0	0	0	0	0	1	0	16547	1014	35	4	493	4	TRIM69	15	45048565	Splice_Site	SNP	G	TCGA-P4-A5EB-01A-11D-A28G-10		45048565	57482827	102	45836											
FBN1	2200	hgsc.bcm.edu	37	15	48748937	48748937	+	Silent	SNP	G	G	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr15:48748937G>T	ENST00000316623.5	-	44	5774	c.5319C>A	c.(5317-5319)atC>atA	p.I1773I		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1773	EGF-like 29; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AGACCCCTGGGATCTCCCGGC	0.468																																																0													112	99	103					15																	48748937		2198	4296	6494	SO:0001819	synonymous_variant	2200			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"Marfan syndrome"	134797	"fibrillin 1 (Marfan syndrome)"	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.5319C>A	chr15.hg19:g.48748937G>T			B2RUU0|D2JYH6|Q15972|Q75N87	Silent	SNP	ENST00000316623.5	hg19	CCDS32232.1																																																																																				0.468	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			T	48748937	G	T	48748937	2	4	775	1	0	0	0	0	0	0	0	1	5704	1164	41	4		4	FBN1	15	48748937	Silent	SNP	G	TCGA-P4-A5EB-01A-11D-A28G-10	3700372	48748937	53782455	103	45837											
SV2B	9899	hgsc.bcm.edu	37	15	91811781	91811781	+	Missense_Mutation	SNP	T	T	A			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr15:91811781T>A	ENST00000394232.1	+	9	1789	c.1319T>A	c.(1318-1320)aTc>aAc	p.I440N	SV2B_ENST00000545111.2_Missense_Mutation_p.I289N|SV2B_ENST00000330276.4_Missense_Mutation_p.I440N	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	440					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)			GGCGCCACAATCAACTTCACG	0.428																																																0													139	136	137					15																	91811781		2198	4298	6496	SO:0001583	missense	9899			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.1319T>A	chr15.hg19:g.91811781T>A	ENSP00000377779:p.Ile440Asn		B4DH30|C6G489|O94840|Q6IAR8	Missense_Mutation	SNP	ENST00000394232.1	hg19	CCDS10370.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.561903	0.86335	.	.	ENSG00000185518	ENST00000545111;ENST00000394232;ENST00000330276	T;T;T	0.61980	0.06;0.06;0.06	5.49	5.49	0.81192	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.043947	0.85682	D	0.000000	T	0.55273	0.1910	L	0.34521	1.04	0.43761	D	0.99627	P	0.41159	0.74	B	0.43386	0.418	T	0.52260	-0.8599	10	0.24483	T	0.36	-35.1417	14.7146	0.69257	0.0:0.0:0.0:1.0	.	440	Q7L1I2	SV2B_HUMAN	N	289;440;440	ENSP00000443243:I289N;ENSP00000377779:I440N;ENSP00000332818:I440N	ENSP00000332818:I440N	I	+	2	0	SV2B	89612785	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	7.750000	0.85110	2.212000	0.71576	0.533000	0.62120	ATC		0.428	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313494.3	NM_014848		A	91811781	T	A	91811781	3	1	775	1	0	0	0	0	1	0	0	0	15423	1435	50	5	1349	5	SV2B	15	91811781	Missense_Mutation	SNP	T	TCGA-P4-A5EB-01A-11D-A28G-10	43062844	91811781	10719611	104	45838											
RPL3L	6123	hgsc.bcm.edu	37	16	1995884	1995884	+	Silent	SNP	C	C	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr16:1995884C>T	ENST00000268661.7	-	8	1093	c.999G>A	c.(997-999)ctG>ctA	p.L333L	MSRB1_ENST00000399753.2_5'Flank|MSRB1_ENST00000361871.3_5'Flank|MSRB1_ENST00000564908.1_5'Flank	NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like	333					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)|membrane (GO:0016020)|ribosome (GO:0005840)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						TACAACCCTTCAGCATGACGA	0.602																																																0													164	138	147					16																	1995884		2199	4300	6499	SO:0001819	synonymous_variant	6123			U65581	CCDS10450.1	16p13.3	2008-02-05			ENSG00000140986	ENSG00000140986		"L ribosomal proteins"	10351	protein-coding gene	gene with protein product						8921388	Standard	NM_005061		Approved		uc002cnh.3	Q92901	OTTHUMG00000128685	ENST00000268661.7:c.999G>A	chr16.hg19:g.1995884C>T				Silent	SNP	ENST00000268661.7	hg19	CCDS10450.1																																																																																				0.602	RPL3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250582.2	NM_005061		T	1995884	C	T	1995884	2	4	775	1	0	0	0	0	0	0	0	1	13600	813	29	2		2	RPL3L	16	1995884	Silent	SNP	C	TCGA-P4-A5EB-01A-11D-A28G-10		1995884	88358869	105	45839											
PKMYT1	9088	hgsc.bcm.edu	37	16	3025761	3025761	+	Missense_Mutation	SNP	G	G	A			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr16:3025761G>A	ENST00000262300.8	-	4	939	c.431C>T	c.(430-432)cCa>cTa	p.P144L	PKMYT1_ENST00000574385.1_Missense_Mutation_p.P135L|PKMYT1_ENST00000440027.2_Missense_Mutation_p.P144L|PKMYT1_ENST00000573944.1_Missense_Mutation_p.P135L|PKMYT1_ENST00000574730.1_Missense_Mutation_p.P75L|PKMYT1_ENST00000431515.2_Missense_Mutation_p.P144L	NM_001258450.1|NM_004203.4|NM_182687.2	NP_001245379.1|NP_004194.3|NP_872629.1	Q99640	PMYT1_HUMAN	protein kinase, membrane associated tyrosine/threonine 1	144	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)			NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						GCCCCGGAATGGTGACATGGA	0.667																																																0													25	27	26					16																	3025761		2153	4235	6388	SO:0001583	missense	9088			AK097642	CCDS10486.1, CCDS45391.1, CCDS58414.1, CCDS58415.1	16p13.3	2014-06-13			ENSG00000127564	ENSG00000127564			29650	protein-coding gene	gene with protein product	"membrane-associated tyrosine- and threonine-specific cdc2-inhibitory kinase", "protein phosphatase 1, regulatory subunit 126"	602474				9001210, 12606722	Standard	NM_004203		Approved	MYT1, PPP1R126	uc002csn.3	Q99640	OTTHUMG00000128975	ENST00000262300.8:c.431C>T	chr16.hg19:g.3025761G>A	ENSP00000262300:p.Pro144Leu		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000262300.8	hg19	CCDS10486.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.938404	0.52972	.	.	ENSG00000127564	ENST00000431515;ENST00000262300;ENST00000440027;ENST00000402679;ENST00000382240	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	5.69	5.69	0.88448	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.059815	0.64402	D	0.000002	T	0.47266	0.1436	N	0.11818	0.18	0.80722	D	1	P;P;P;P	0.43701	0.56;0.704;0.56;0.815	B;B;B;B	0.39068	0.217;0.217;0.217;0.289	T	0.56498	-0.7969	10	0.66056	D	0.02	-14.3456	17.2983	0.87175	0.0:0.0:1.0:0.0	.	135;75;144;144	A6NHV6;B4DXD4;Q99640;F8W164	.;.;PMYT1_HUMAN;.	L	144;144;144;144;135	ENSP00000392855:P144L;ENSP00000262300:P144L;ENSP00000397739:P144L;ENSP00000371675:P135L	ENSP00000262300:P144L	P	-	2	0	PKMYT1	2965762	1.000000	0.71417	0.237000	0.24090	0.956000	0.61745	4.915000	0.63355	2.676000	0.91093	0.655000	0.94253	CCA		0.667	PKMYT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250963.2	NM_004203		A	3025761	G	A	3025761	3	1	775	1	0	0	0	0	1	0	0	0	11980	1348	47	2	1130	2	PKMYT1	16	3025761	Missense_Mutation	SNP	G	TCGA-P4-A5EB-01A-11D-A28G-10	1029877	3025761	87328992	106	45840											
NLRC3	197358	hgsc.bcm.edu	37	16	3614323	3614323	+	RNA	SNP	G	G	C			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr16:3614323G>C	ENST00000301749.7	-	0	1020				NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_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						CCACCGCCAGGCTGGGCTCCC	0.662																																																0													31	37	35					16																	3614323		2003	4170	6173			197358			BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"Nucleotide-binding domain and leucine rich repeat containing"	29889	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3", "NOD-like receptor C3"	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		chr16.hg19:g.3614323G>C			Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	Missense_Mutation	SNP	ENST00000301749.7	hg19		.	.	.	.	.	.	.	.	.	.	G	1.295	-0.606481	0.03717	.	.	ENSG00000167984	ENST00000419350;ENST00000301749;ENST00000359128;ENST00000448023;ENST00000324659	T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23	4.84	0.17	0.15021	.	0.625501	0.16533	N	0.210300	T	0.55625	0.1932	.	.	.	0.09310	N	1	B	0.10296	0.003	B	0.15870	0.014	T	0.32107	-0.9919	9	0.17832	T	0.49	.	4.5952	0.12325	0.0829:0.2788:0.4949:0.1434	.	252	C9JLH9	.	R	205;205;205;252;187	ENSP00000301749:S205R;ENSP00000352039:S205R;ENSP00000414415:S252R;ENSP00000323897:S187R	ENSP00000301749:S205R	S	-	3	2	NLRC3	3554324	0.000000	0.05858	0.004000	0.12327	0.008000	0.06430	0.471000	0.22100	0.074000	0.16767	0.655000	0.94253	AGC		0.662	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene		NM_178844		C	3614323	G	C	3614323	1	2	775	0	1	0	0	0	0	0	0	0	10470	1194	42	4		4	NLRC3	16	3614323	RNA	SNP	G	TCGA-P4-A5EB-01A-11D-A28G-10	588562	3614323	86740430	107	45841											
CREBBP	1387	hgsc.bcm.edu	37	16	3779018	3779018	+	Silent	SNP	C	C	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr16:3779018C>T	ENST00000262367.5	-	31	6839	c.6030G>A	c.(6028-6030)ggG>ggA	p.G2010G	CREBBP_ENST00000382070.3_Silent_p.G1972G	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2010					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GCATGACGGGCCCGCTCACCT	0.692			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																																Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	0													12	14	13					16																	3779018		2185	4287	6472	SO:0001819	synonymous_variant	1387			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.6030G>A	chr16.hg19:g.3779018C>T			D3DUC9|O00147|Q16376|Q4LE28	Silent	SNP	ENST00000262367.5	hg19	CCDS10509.1																																																																																				0.692	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		T	3779018	C	T	3779018	2	4	775	1	0	0	0	0	0	0	0	1	3863	726	26	2		2	CREBBP	16	3779018	Silent	SNP	C	TCGA-P4-A5EB-01A-11D-A28G-10	164695	3779018	86575735	108	45842											
C16orf68	79091	hgsc.bcm.edu	37	16	8736394	8736394	+	Missense_Mutation	SNP	T	T	C			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr16:8736394T>C	ENST00000381920.3	+	9	1240	c.982T>C	c.(982-984)Tgc>Cgc	p.C328R	METTL22_ENST00000561758.1_Missense_Mutation_p.C272R|METTL22_ENST00000568967.1_3'UTR	NM_024109.2	NP_077014.2	Q9BUU2	MET22_HUMAN	methyltransferase like 22	328						nucleus (GO:0005634)	methyltransferase activity (GO:0008168)			large_intestine(5)|lung(4)	9						GAAAAATGCCTGCACAGCCAT	0.532																																																0													124	139	134					16																	8736394		2055	4190	6245	SO:0001583	missense	79091			AK022495	CCDS10533.2	16p13.2	2014-07-15	2011-03-03	2011-03-03	ENSG00000067365	ENSG00000067365			28368	protein-coding gene	gene with protein product		615261	"chromosome 16 open reading frame 68"	C16orf68		24140279	Standard	XM_005255570		Approved	FLJ12433,MGC2654	uc002cyz.3	Q9BUU2	OTTHUMG00000129694	ENST00000381920.3:c.982T>C	chr16.hg19:g.8736394T>C	ENSP00000371345:p.Cys328Arg		B2RD29|D3DUF2|Q6XYB4|Q9HA03	Missense_Mutation	SNP	ENST00000381920.3	hg19	CCDS10533.2	.	.	.	.	.	.	.	.	.	.	T	10.28	1.307330	0.23821	.	.	ENSG00000067365	ENST00000381920	T	0.40756	1.02	5.18	5.18	0.71444	.	0.177884	0.49305	D	0.000145	T	0.43590	0.1254	L	0.41710	1.295	0.80722	D	1	D;P	0.53462	0.96;0.752	P;P	0.54312	0.748;0.469	T	0.19976	-1.0289	10	0.14252	T	0.57	-39.2838	11.4298	0.50034	0.0:0.0:0.0:1.0	.	103;328	Q9BUU2-3;Q9BUU2	.;MET22_HUMAN	R	328	ENSP00000371345:C328R	ENSP00000371345:C328R	C	+	1	0	METTL22	8643895	1.000000	0.71417	1.000000	0.80357	0.286000	0.27126	2.384000	0.44362	1.956000	0.56807	0.533000	0.62120	TGC		0.532	METTL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251901.1	NM_024109		C	8736394	T	C	8736394	3	2	775	1	0	0	0	0	1	0	0	0	1829	1580	55	3	1012	3	C16orf68	16	8736394	Missense_Mutation	SNP	T	TCGA-P4-A5EB-01A-11D-A28G-10	4957376	8736394	81618359	109	45843											
DHRS7C	201140	hgsc.bcm.edu	37	17	9683157	9683157	+	Missense_Mutation	SNP	T	T	A			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr17:9683157T>A	ENST00000330255.5	-	3	478	c.466A>T	c.(466-468)Atc>Ttc	p.I156F	DHRS7C_ENST00000571134.1_Missense_Mutation_p.I155F	NM_001105571.2|NM_001220493.1	NP_001099041.1|NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	156					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						GTCAATGTGATGGGGCCAAAG	0.478																																																0													49	47	47					17																	9683157		1906	4125	6031	SO:0001583	missense	201140				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.466A>T	chr17.hg19:g.9683157T>A	ENSP00000327975:p.Ile156Phe		B7ZW74|B9EJH3	Missense_Mutation	SNP	ENST00000330255.5	hg19	CCDS56020.1	.	.	.	.	.	.	.	.	.	.	T	13.39	2.223879	0.39300	.	.	ENSG00000184544	ENST00000330255	D	0.86865	-2.18	5.75	5.75	0.90469	NAD(P)-binding domain (1);	0.045861	0.85682	D	0.000000	D	0.90000	0.6878	L	0.37630	1.12	0.47511	D	0.999443	D;D	0.71674	0.998;0.998	D;D	0.71184	0.972;0.94	D	0.91167	0.4965	10	0.87932	D	0	.	15.0365	0.71751	0.0:0.0:0.0:1.0	.	156;152	A6NNS2;B9EJH3	DRS7C_HUMAN;.	F	156	ENSP00000327975:I156F	ENSP00000327975:I156F	I	-	1	0	DHRS7C	9623882	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.823000	0.69272	2.193000	0.70182	0.533000	0.62120	ATC		0.478	DHRS7C-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439863.1	XM_113912		A	9683157	T	A	9683157	3	1	775	1	0	0	0	0	1	0	0	0	4499	1464	51	5	488	5	DHRS7C	17	9683157	Missense_Mutation	SNP	T	TCGA-P4-A5EB-01A-11D-A28G-10		9683157	71512053	110	45844											
COX10	1352	hgsc.bcm.edu	37	17	13980322	13980322	+	Missense_Mutation	SNP	G	G	C			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr17:13980322G>C	ENST00000261643.3	+	3	525	c.448G>C	c.(448-450)Gtg>Ctg	p.V150L	COX10_ENST00000536205.1_5'UTR|COX10_ENST00000429152.2_Missense_Mutation_p.V150L|COX10_ENST00000537334.1_Intron	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	150					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)		GAAGCTGCAAGTGTATGATTT	0.368																																																0													83	88	87					17																	13980322		2203	4300	6503	SO:0001583	missense	1352			U09466	CCDS11166.1	17p12	2013-05-24	2012-10-15		ENSG00000006695	ENSG00000006695		"Mitochondrial respiratory chain complex assembly factors"	2260	protein-coding gene	gene with protein product	"heme A: farnesyltransferase", "protoheme IX farnesyltransferase, mitochondrial", "heme O synthase"	602125	"COX10 (yeast) homolog, cytochrome c oxidase assembly protein (heme A: farnesyltransferase)", "COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast)"			9177788, 12928484	Standard	NM_001303		Approved		uc002gof.4	Q12887	OTTHUMG00000058814	ENST00000261643.3:c.448G>C	chr17.hg19:g.13980322G>C	ENSP00000261643:p.Val150Leu		B2R6U5|B4DJ50|O15334|Q969F7	Missense_Mutation	SNP	ENST00000261643.3	hg19	CCDS11166.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.143|0.143	-1.100268|-1.100268	0.01843|0.01843	.|.	.|.	ENSG00000006695|ENSG00000006695	ENST00000429152|ENST00000261643	T|T	0.37235|0.61980	1.21|0.06	5.35|5.35	-6.73|-6.73	0.01749|0.01749	.|.	.|1.554890	.|0.03407	.|N	.|0.204147	T|T	0.36880|0.36880	0.0983|0.0983	N|N	0.25890|0.25890	0.77|0.77	0.34746|0.34746	D|D	0.731242|0.731242	.|B	.|0.02656	.|0.0	.|B	.|0.04013	.|0.001	T|T	0.49978|0.49978	-0.8881|-0.8881	6|10	.|0.02654	.|T	.|1	0.0067|0.0067	3.698|3.698	0.08372|0.08372	0.2638:0.4606:0.1338:0.1418|0.2638:0.4606:0.1338:0.1418	.|.	.|150	.|Q12887	.|COX10_HUMAN	T|L	110|150	ENSP00000397750:S110T|ENSP00000261643:V150L	.|ENSP00000261643:V150L	S|V	+|+	2|1	0|0	COX10|COX10	13921047|13921047	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.223000|0.223000	0.24884|0.24884	-0.888000|-0.888000	0.04148|0.04148	-0.666000|-0.666000	0.05310|0.05310	0.655000|0.655000	0.94253|0.94253	AGT|GTG		0.368	COX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130003.1	NM_001303		C	13980322	G	C	13980322	3	2	775	1	0	0	0	0	1	0	0	0	3764	1029	36	4	458	4	COX10	17	13980322	Missense_Mutation	SNP	G	TCGA-P4-A5EB-01A-11D-A28G-10	4297165	13980322	67214888	111	45845											
SLFN12L	100506736	hgsc.bcm.edu	37	17	33807110	33807110	+	Missense_Mutation	SNP	G	G	A			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr17:33807110G>A	ENST00000260908.7	-	2	236	c.119C>T	c.(118-120)aCt>aTt	p.T40I	SLFN12L_ENST00000361112.4_Missense_Mutation_p.T69I|RP11-686D22.9_ENST00000587076.1_RNA|SLFN12L_ENST00000449046.1_Missense_Mutation_p.T71I	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	40						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						CTCTCCAAGAGTGACTCTTCC	0.403																																																0													57	44	48					17																	33807110		692	1591	2283	SO:0001583	missense	100506736			AK172761	CCDS56026.1	17q12	2011-05-24				ENSG00000205045			33920	protein-coding gene	gene with protein product		614956				9846487	Standard	NM_001195790		Approved		uc021tuy.1	Q6IEE8		ENST00000260908.7:c.119C>T	chr17.hg19:g.33807110G>A	ENSP00000437635:p.Thr40Ile		F5H6G3	Missense_Mutation	SNP	ENST00000260908.7	hg19	CCDS56026.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.968021	0.53507	.	.	ENSG00000205045	ENST00000260908;ENST00000361112;ENST00000449046	T;T;T	0.06528	3.32;3.64;3.29	2.72	2.72	0.32119	.	.	.	.	.	T	0.16599	0.0399	L	0.57536	1.79	0.09310	N	1	D	0.65815	0.995	D	0.63703	0.917	T	0.03993	-1.0986	9	0.48119	T	0.1	.	8.9486	0.35773	0.0:0.0:1.0:0.0	.	69	Q6IEE8-2	.	I	40;69;71	ENSP00000437635:T40I;ENSP00000354412:T69I;ENSP00000389348:T71I	ENSP00000437635:T40I	T	-	2	0	SLFN12L	30831223	0.000000	0.05858	0.017000	0.16124	0.662000	0.39071	-0.169000	0.09911	1.504000	0.48704	0.205000	0.17691	ACT		0.403	SLFN12L-004	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395748.2	XM_496206		A	33807110	G	A	33807110	3	1	775	1	0	0	0	0	1	0	0	0	14741	1029	36	2	1659	2	SLFN12L	17	33807110	Missense_Mutation	SNP	G	TCGA-P4-A5EB-01A-11D-A28G-10	19826788	33807110	47388100	112	45846											
KRT38	8687	hgsc.bcm.edu	37	17	39596920	39596920	+	Missense_Mutation	SNP	A	A	C			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr17:39596920A>C	ENST00000246646.3	-	1	253	c.254T>G	c.(253-255)aTt>aGt	p.I85S		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	85	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)				GTTGCCAGGAATGTGGCAGGT	0.607																																																0													73	68	70					17																	39596920		2203	4300	6503	SO:0001583	missense	8687			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.254T>G	chr17.hg19:g.39596920A>C	ENSP00000246646:p.Ile85Ser		A2RRM5|Q6A164	Missense_Mutation	SNP	ENST00000246646.3	hg19	CCDS11392.1	.	.	.	.	.	.	.	.	.	.	A	13.77	2.337461	0.41398	.	.	ENSG00000171360	ENST00000246646	D	0.82167	-1.58	4.89	3.82	0.43975	.	0.130125	0.34460	N	0.003941	D	0.84511	0.5488	L	0.50333	1.59	0.09310	N	1	D	0.89917	1.0	D	0.69307	0.963	T	0.72830	-0.4174	10	0.28530	T	0.3	.	5.4631	0.16627	0.6239:0.2845:0.0915:0.0	.	85	O76015	KRT38_HUMAN	S	85	ENSP00000246646:I85S	ENSP00000246646:I85S	I	-	2	0	KRT38	36850446	0.089000	0.21612	0.031000	0.17742	0.359000	0.29487	1.205000	0.32308	0.906000	0.36621	0.528000	0.53228	ATT		0.607	KRT38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257307.2	NM_006771		C	39596920	A	C	39596920	3	2	775	1	0	0	0	0	1	0	0	0	8477	101	4	5	1144	5	KRT38	17	39596920	Missense_Mutation	SNP	A	TCGA-P4-A5EB-01A-11D-A28G-10	5789810	39596920	41598290	113	45847											
JUP	3728	hgsc.bcm.edu	37	17	39925817	39925817	+	Missense_Mutation	SNP	C	C	G			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr17:39925817C>G	ENST00000393931.3	-	3	439	c.321G>C	c.(319-321)gaG>gaC	p.E107D	JUP_ENST00000393930.1_Missense_Mutation_p.E107D|JUP_ENST00000310706.5_Missense_Mutation_p.E107D|JUP_ENST00000540235.1_Missense_Mutation_p.E107D	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	107					adherens junction organization (GO:0034332)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell-cell junction organization (GO:0045216)|cellular response to indole-3-methanol (GO:0071681)|cytoskeletal anchoring at plasma membrane (GO:0007016)|desmosome assembly (GO:0002159)|detection of mechanical stimulus (GO:0050982)|ectoderm development (GO:0007398)|endothelial cell-cell adhesion (GO:0071603)|establishment of protein localization to plasma membrane (GO:0090002)|gastrulation (GO:0007369)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|nervous system development (GO:0007399)|oocyte development (GO:0048599)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein heterooligomerization (GO:0051291)|regulation of cell proliferation (GO:0042127)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)|ventricular cardiac muscle cell action potential (GO:0086005)	actin cytoskeleton (GO:0015629)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gamma-catenin-TCF7L2 complex (GO:0071665)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|cadherin binding (GO:0045296)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|structural constituent of cell wall (GO:0005199)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		TGGCCTGCCCCTCCACCTGGG	0.647																																					Colon(16;42 520 6044 17852 28530)											0													31	29	29					17																	39925817		2201	4297	6498	SO:0001583	missense	3728			AF233882	CCDS11407.1	17q21	2014-09-17	2004-08-09		ENSG00000173801	ENSG00000173801		"Armadillo repeat containing"	6207	protein-coding gene	gene with protein product		173325	"catenin (cadherin-associated protein), gamma 80kDa"	CTNNG		1889810, 7604000	Standard	NM_021991		Approved	DP3, PDGB, PKGB, DPIII	uc002hxs.2	P14923	OTTHUMG00000133494	ENST00000393931.3:c.321G>C	chr17.hg19:g.39925817C>G	ENSP00000377508:p.Glu107Asp		Q15093|Q15151|Q7L3S5|Q86W21|Q9BWC4|Q9HCX9	Missense_Mutation	SNP	ENST00000393931.3	hg19	CCDS11407.1	.	.	.	.	.	.	.	.	.	.	c	8.550	0.875277	0.17395	.	.	ENSG00000173801	ENST00000540235;ENST00000393930;ENST00000310706;ENST00000393931;ENST00000449889;ENST00000437187;ENST00000420370;ENST00000424457	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	5.52	-7.03	0.01584	.	0.239681	0.42053	D	0.000764	T	0.27454	0.0674	N	0.08118	0	0.22591	N	0.998951	D;B	0.54207	0.965;0.001	B;B	0.43950	0.437;0.003	T	0.51663	-0.8677	10	0.22109	T	0.4	-21.4947	1.588	0.02648	0.2613:0.236:0.089:0.4138	.	107;107	B4DE59;P14923	.;PLAK_HUMAN	D	107	ENSP00000441751:E107D;ENSP00000377507:E107D;ENSP00000311113:E107D;ENSP00000377508:E107D;ENSP00000389886:E107D;ENSP00000394146:E107D;ENSP00000411449:E107D;ENSP00000401034:E107D	ENSP00000311113:E107D	E	-	3	2	JUP	37179343	0.000000	0.05858	0.979000	0.43373	0.992000	0.81027	-4.131000	0.00289	-0.505000	0.06568	0.556000	0.70494	GAG		0.647	JUP-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257406.1			G	39925817	C	G	39925817	3	3	775	1	0	0	0	0	1	0	0	0	7974	680	24	4	1964	4	JUP	17	39925817	Missense_Mutation	SNP	C	TCGA-P4-A5EB-01A-11D-A28G-10	328897	39925817	41269393	114	45848											
HELZ	9931	hgsc.bcm.edu	37	17	65105385	65105385	+	Missense_Mutation	SNP	C	C	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr17:65105385C>T	ENST00000358691.5	-	29	4502	c.4336G>A	c.(4336-4338)Gaa>Aaa	p.E1446K	HELZ_ENST00000580168.1_Missense_Mutation_p.E1447K	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	1446						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)					ATTACAGCTTCTGCAGGAGGA	0.547																																																0													65	73	70					17																	65105385		2028	4202	6230	SO:0001583	missense	9931			D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"Zinc fingers, CCCH-type domain containing"	16878	protein-coding gene	gene with protein product	"down-regulated in human cancers"	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.4336G>A	chr17.hg19:g.65105385C>T	ENSP00000351524:p.Glu1446Lys		I6L9H4	Missense_Mutation	SNP	ENST00000358691.5	hg19	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.701438	0.48307	.	.	ENSG00000198265	ENST00000358691	D	0.83419	-1.72	5.9	4.92	0.64577	.	0.199043	0.53938	D	0.000060	T	0.74801	0.3764	N	0.19112	0.55	0.43777	D	0.996308	B;B	0.20261	0.043;0.043	B;B	0.19391	0.025;0.025	T	0.70945	-0.4734	10	0.62326	D	0.03	-11.4842	16.9692	0.86294	0.0:0.8723:0.1277:0.0	.	1447;1446	B7ZLW2;P42694	.;HELZ_HUMAN	K	1446	ENSP00000351524:E1446K	ENSP00000351524:E1446K	E	-	1	0	HELZ	62535847	0.991000	0.36638	0.996000	0.52242	0.966000	0.64601	2.728000	0.47319	1.460000	0.47911	0.549000	0.68633	GAA		0.547	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		T	65105385	C	T	65105385	3	4	775	1	0	0	0	0	1	0	0	0	7051	922	32	2	1512	2	HELZ	17	65105385	Missense_Mutation	SNP	C	TCGA-P4-A5EB-01A-11D-A28G-10	25179568	65105385	16089825	115	45849											
EXOC7	23265	hgsc.bcm.edu	37	17	74081440	74081440	+	Missense_Mutation	SNP	G	G	A			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr17:74081440G>A	ENST00000335146.7	-	16	1873	c.1820C>T	c.(1819-1821)tCc>tTc	p.S607F	EXOC7_ENST00000589210.1_Missense_Mutation_p.S556F|EXOC7_ENST00000332065.5_Missense_Mutation_p.S525F|EXOC7_ENST00000467929.2_Missense_Mutation_p.S528F|EXOC7_ENST00000405575.4_Missense_Mutation_p.S579F|EXOC7_ENST00000607838.1_Missense_Mutation_p.S579F|EXOC7_ENST00000411744.2_Missense_Mutation_p.S548F|EXOC7_ENST00000591724.1_5'Flank			Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	607					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			CTCCCGGTAGGAGCGCTCAGC	0.637																																																0													57	47	50					17																	74081440		2202	4300	6502	SO:0001583	missense	23265			BC029432	CCDS11741.1, CCDS32738.1, CCDS45781.1, CCDS45782.1, CCDS45784.1, CCDS74164.1	17q25.3	2013-01-22			ENSG00000182473	ENSG00000182473			23214	protein-coding gene	gene with protein product		608163				12477932	Standard	NM_001013839		Approved	EXO70, KIAA1067, YJL085W, Exo70p	uc010wsw.2	Q9UPT5	OTTHUMG00000150720	ENST00000335146.7:c.1820C>T	chr17.hg19:g.74081440G>A	ENSP00000334100:p.Ser607Phe		B5MC69|B8XXP2|Q8ND93|Q8WV91|Q96FF0|Q9H8C3|Q9H9X3|Q9HA32	Missense_Mutation	SNP	ENST00000335146.7	hg19	CCDS45782.1	.	.	.	.	.	.	.	.	.	.	g	11.91	1.778418	0.31502	.	.	ENSG00000182473	ENST00000332065;ENST00000351709;ENST00000405575;ENST00000335146;ENST00000357231;ENST00000425372;ENST00000411744	.	.	.	4.43	4.43	0.53597	Cullin repeat-like-containing domain (1);	0.133958	0.50627	D	0.000114	T	0.54615	0.1869	L	0.40543	1.245	0.80722	D	1	P;B;P;B;P;P;P	0.51653	0.947;0.006;0.844;0.059;0.918;0.809;0.578	B;B;P;B;B;B;B	0.46389	0.283;0.028;0.515;0.028;0.384;0.317;0.129	T	0.54200	-0.8329	9	0.30078	T	0.28	-19.663	17.099	0.86644	0.0:0.0:1.0:0.0	.	548;579;528;493;607;525;556	Q9UPT5-5;Q9UPT5-6;B4DJ07;F5H1P1;Q9UPT5;Q9UPT5-2;Q9UPT5-1	.;.;.;.;EXOC7_HUMAN;.;.	F	525;445;579;607;556;493;548	.	ENSP00000333806:S525F	S	-	2	0	EXOC7	71593035	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	6.700000	0.74619	2.035000	0.60131	0.479000	0.44913	TCC		0.637	EXOC7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000319768.2	NM_015219		A	74081440	G	A	74081440	3	1	775	1	0	0	0	0	1	0	0	0	5312	1174	41	2	407	2	EXOC7	17	74081440	Missense_Mutation	SNP	G	TCGA-P4-A5EB-01A-11D-A28G-10	8976055	74081440	7113770	116	45850											
SETBP1	26040	hgsc.bcm.edu	37	18	42533244	42533244	+	Silent	SNP	C	C	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr18:42533244C>T	ENST00000282030.5	+	4	4235	c.3939C>T	c.(3937-3939)gaC>gaT	p.D1313D		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1313						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)		GGGAAAAGGACATCCAAGCCT	0.443									Schinzel-Giedion syndrome																																							0													130	120	123					18																	42533244		2203	4300	6503	SO:0001819	synonymous_variant	26040	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.3939C>T	chr18.hg19:g.42533244C>T			A6H8W5|Q6P6C3|Q9UEF3	Silent	SNP	ENST00000282030.5	hg19	CCDS11923.2																																																																																				0.443	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		T	42533244	C	T	42533244	2	4	775	1	0	0	0	0	0	0	0	1	14135	477	17	2		2	SETBP1	18	42533244	Silent	SNP	C	TCGA-P4-A5EB-01A-11D-A28G-10		42533244	35544004	117	45851											
PTPRS	5802	hgsc.bcm.edu	37	19	5286082	5286082	+	Missense_Mutation	SNP	C	C	A	rs200430287	byFrequency	TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr19:5286082C>A	ENST00000587303.1	-	1	169	c.70G>T	c.(70-72)Gtt>Ttt	p.V24F	PTPRS_ENST00000353284.2_Missense_Mutation_p.V24F|PTPRS_ENST00000357368.4_Missense_Mutation_p.V24F|PTPRS_ENST00000262963.6_Missense_Mutation_p.V24F|PTPRS_ENST00000588012.1_Missense_Mutation_p.V24F|PTPRS_ENST00000592099.1_Missense_Mutation_p.V24F|PTPRS_ENST00000372412.4_Missense_Mutation_p.V24F|PTPRS_ENST00000348075.2_Missense_Mutation_p.V24F|PTPRS_ENST00000590509.1_Missense_Mutation_p.V24F|PTPRS_ENST00000588552.1_5'UTR			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	24					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)	CAGCCTCCAACGAGCAGGACC	0.617																																																0													52	46	48					19																	5286082		2203	4299	6502	SO:0001583	missense	5802			U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.70G>T	chr19.hg19:g.5286082C>A	ENSP00000467537:p.Val24Phe		O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	hg19	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	C	6.878	0.531372	0.13127	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.56776	0.62;0.61;0.57;0.44;0.53	4.14	1.83	0.25207	.	1.741500	0.04678	U	0.411808	T	0.32971	0.0847	N	0.08118	0	0.09310	N	0.999997	B;B;B;B;P;B;B	0.34462	0.275;0.207;0.275;0.275;0.454;0.089;0.18	B;B;B;B;B;B;B	0.34138	0.091;0.176;0.091;0.091;0.045;0.017;0.025	T	0.35251	-0.9796	10	0.59425	D	0.04	.	5.1867	0.15187	0.0:0.6502:0.2297:0.1202	.	24;24;24;24;24;24;50	F8W800;Q8NHS7;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;.;PTPRS_HUMAN;.	F	50;24;24;24;24;24;24;24;24;24	ENSP00000361489:V24F;ENSP00000349932:V24F;ENSP00000262963:V24F;ENSP00000269907:V24F;ENSP00000327313:V24F	ENSP00000262963:V24F	V	-	1	0	PTPRS	5237082	0.861000	0.29849	0.878000	0.34440	0.011000	0.07611	1.123000	0.31308	0.973000	0.38340	-0.362000	0.07510	GTT		0.617	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			A	5286082	C	A	5286082	3	1	775	1	0	0	0	0	1	0	0	0	12817	536	19	4	5924	4	PTPRS	19	5286082	Missense_Mutation	SNP	C	TCGA-P4-A5EB-01A-11D-A28G-10		5286082	53842901	118	45852											
KEAP1	9817	hgsc.bcm.edu	37	19	10610178	10610178	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr19:10610178G>A	ENST00000171111.5	-	2	1079	c.532C>T	c.(532-534)Cag>Tag	p.Q178*	KEAP1_ENST00000588024.1_5'UTR|KEAP1_ENST00000393623.2_Nonsense_Mutation_p.Q178*	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	178					cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	GGGTCCAGCTGCTGCACCAGG	0.572																																																0													137	109	118					19																	10610178		2203	4300	6503	SO:0001587	stop_gained	9817			AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"Kelch-like", "BTB/POZ domain containing"	23177	protein-coding gene	gene with protein product	"kelch-like family member 19"	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.532C>T	chr19.hg19:g.10610178G>A	ENSP00000171111:p.Gln178*		B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Nonsense_Mutation	SNP	ENST00000171111.5	hg19	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	G	38	6.966030	0.97967	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	.	.	.	4.81	4.81	0.61882	.	0.116198	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	15.3825	0.74669	0.0:0.0:1.0:0.0	.	.	.	.	X	178	.	ENSP00000171111:Q178X	Q	-	1	0	KEAP1	10471178	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.704000	0.84595	2.232000	0.73038	0.561000	0.74099	CAG		0.572	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		A	10610178	G	A	10610178	4	1	775	1	0	0	0	0	0	1	0	0	8143	1328	46	2	1362	2	KEAP1	19	10610178	Nonsense_Mutation	SNP	G	TCGA-P4-A5EB-01A-11D-A28G-10	5324096	10610178	48518805	119	45853											
SLC7A9	11136	hgsc.bcm.edu	37	19	33350841	33350841	+	Missense_Mutation	SNP	A	A	G			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr19:33350841A>G	ENST00000023064.4	-	8	970	c.779T>C	c.(778-780)aTc>aCc	p.I260T	SLC7A9_ENST00000587772.1_Missense_Mutation_p.I260T|RN7SKP22_ENST00000365097.1_RNA|SLC7A9_ENST00000590341.1_Missense_Mutation_p.I260T	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	260					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)	CACCAGGGGGATCCCGATGAT	0.607																																					GBM(181;1335 2108 9644 44178 46689)											0													100	82	88					19																	33350841		2203	4300	6503	SO:0001583	missense	11136			AF141289	CCDS12425.1	19q13.11	2013-07-19	2013-07-19		ENSG00000021488	ENSG00000021488		"Solute carriers"	11067	protein-coding gene	gene with protein product		604144		CSNU3		10471498	Standard	NM_014270		Approved		uc021usa.1	P82251	OTTHUMG00000180287	ENST00000023064.4:c.779T>C	chr19.hg19:g.33350841A>G	ENSP00000023064:p.Ile260Thr		B2R9A6	Missense_Mutation	SNP	ENST00000023064.4	hg19	CCDS12425.1	.	.	.	.	.	.	.	.	.	.	A	19.17	3.776707	0.70107	.	.	ENSG00000021488	ENST00000023064	D	0.90620	-2.7	5.64	5.64	0.86602	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.95799	0.8633	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	D	0.96469	0.9347	10	0.87932	D	0	.	15.8639	0.79047	1.0:0.0:0.0:0.0	.	260;260	Q53FY4;P82251	.;BAT1_HUMAN	T	260	ENSP00000023064:I260T	ENSP00000023064:I260T	I	-	2	0	SLC7A9	38042681	1.000000	0.71417	1.000000	0.80357	0.388000	0.30384	9.192000	0.94947	2.161000	0.67846	0.379000	0.24179	ATC		0.607	SLC7A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450585.1			G	33350841	A	G	33350841	3	3	775	1	0	0	0	0	1	0	0	0	14711	333	12	3	708	3	SLC7A9	19	33350841	Missense_Mutation	SNP	A	TCGA-P4-A5EB-01A-11D-A28G-10	22740663	33350841	25778142	120	45854											
CEBPA	1050	hgsc.bcm.edu	37	19	33793108	33793108	+	Silent	SNP	G	G	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr19:33793108G>T	ENST00000498907.2	-	1	362	c.213C>A	c.(211-213)gcC>gcA	p.A71A	CEBPA-AS1_ENST00000592982.2_RNA|CTD-2540B15.11_ENST00000589932.1_RNA|CTD-2540B15.9_ENST00000593041.1_lincRNA|CTD-2540B15.7_ENST00000587312.1_RNA	NM_004364.3	NP_004355.2	P49715	CEBPA_HUMAN	CCAAT/enhancer binding protein (C/EBP), alpha	71					acute-phase response (GO:0006953)|brown fat cell differentiation (GO:0050873)|cell maturation (GO:0048469)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|cholesterol metabolic process (GO:0008203)|cytokine-mediated signaling pathway (GO:0019221)|embryonic placenta development (GO:0001892)|generation of precursor metabolites and energy (GO:0006091)|inner ear development (GO:0048839)|liver development (GO:0001889)|lung development (GO:0030324)|macrophage differentiation (GO:0030225)|mitochondrion organization (GO:0007005)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ regeneration (GO:0031100)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|response to glucocorticoid (GO:0051384)|response to vitamin B2 (GO:0033274)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|urea cycle (GO:0000050)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|Rb-E2F complex (GO:0035189)	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 transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.A72fs*89(1)|p.Y7_G130del(1)|p.A72fs*90(1)|p.A72fs*37(1)|p.S61fs*88(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(912)|lung(5)|prostate(1)|stomach(1)	920	Esophageal squamous(110;0.137)					CGTTGAAGGCGGCCGGGTCGA	0.751			"Mis, N, F"		"AML, MDS"				Acute Myeloid Leukemia, Familial, associated with CEBPA germline mutation																														Dom	yes		19	19q13.1	1050	"CCAAT/enhancer binding protein (C/EBP), alpha"		L	5	Insertion - Frameshift(3)|Deletion - Frameshift(1)|Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(5)											4	5	4					19																	33793108		1229	2522	3751	SO:0001819	synonymous_variant	1050	Familial Cancer Database	Familial AML	M37197	CCDS54243.1	19q13.1	2014-09-17				ENSG00000245848		"basic leucine zipper proteins"	1833	protein-coding gene	gene with protein product		116897		CEBP		1535333, 1840554	Standard	NM_004364		Approved	C/EBP-alpha	uc002nun.3	P49715		ENST00000498907.2:c.213C>A	chr19.hg19:g.33793108G>T			A7LNP2|P78319|Q05CA4	Silent	SNP	ENST00000498907.2	hg19	CCDS54243.1																																																																																				0.751	CEBPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365012.1	NM_004364		T	33793108	G	T	33793108	2	4	775	1	0	0	0	0	0	0	0	1	3201	1103	39	4		4	CEBPA	19	33793108	Silent	SNP	G	TCGA-P4-A5EB-01A-11D-A28G-10	442267	33793108	25335875	121	45855			1	126		2	2	13	G		5.349263e-05
CEBPA	1050	hgsc.bcm.edu	37	19	33793120	33793120	+	Nonsense_Mutation	SNP	G	G	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr19:33793120G>T	ENST00000498907.2	-	1	350	c.201C>A	c.(199-201)taC>taA	p.Y67*	CEBPA-AS1_ENST00000592982.2_RNA|CTD-2540B15.11_ENST00000589932.1_RNA|CTD-2540B15.9_ENST00000593041.1_lincRNA|CTD-2540B15.7_ENST00000587312.1_RNA	NM_004364.3	NP_004355.2	P49715	CEBPA_HUMAN	CCAAT/enhancer binding protein (C/EBP), alpha	67					acute-phase response (GO:0006953)|brown fat cell differentiation (GO:0050873)|cell maturation (GO:0048469)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|cholesterol metabolic process (GO:0008203)|cytokine-mediated signaling pathway (GO:0019221)|embryonic placenta development (GO:0001892)|generation of precursor metabolites and energy (GO:0006091)|inner ear development (GO:0048839)|liver development (GO:0001889)|lung development (GO:0030324)|macrophage differentiation (GO:0030225)|mitochondrion organization (GO:0007005)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ regeneration (GO:0031100)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|response to glucocorticoid (GO:0051384)|response to vitamin B2 (GO:0033274)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|urea cycle (GO:0000050)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|Rb-E2F complex (GO:0035189)	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 transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.I68fs*41(4)|p.Y67fs*92(2)|p.S61fs*88(1)|p.Y67fs*95(1)|p.I68fs*39(1)|p.Y7_G130del(1)|p.Y67fs*42(1)|p.Y67fs*37(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(912)|lung(5)|prostate(1)|stomach(1)	920	Esophageal squamous(110;0.137)					CCGGGTCGATGTAGGCGCTGA	0.751			"Mis, N, F"		"AML, MDS"				Acute Myeloid Leukemia, Familial, associated with CEBPA germline mutation																														Dom	yes		19	19q13.1	1050	"CCAAT/enhancer binding protein (C/EBP), alpha"		L	12	Insertion - Frameshift(6)|Deletion - Frameshift(5)|Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(12)											4	5	5					19																	33793120		1255	2546	3801	SO:0001587	stop_gained	1050	Familial Cancer Database	Familial AML	M37197	CCDS54243.1	19q13.1	2014-09-17				ENSG00000245848		"basic leucine zipper proteins"	1833	protein-coding gene	gene with protein product		116897		CEBP		1535333, 1840554	Standard	NM_004364		Approved	C/EBP-alpha	uc002nun.3	P49715		ENST00000498907.2:c.201C>A	chr19.hg19:g.33793120G>T	ENSP00000427514:p.Tyr67*		A7LNP2|P78319|Q05CA4	Nonsense_Mutation	SNP	ENST00000498907.2	hg19	CCDS54243.1	.	.	.	.	.	.	.	.	.	.	g	33	5.204863	0.95033	.	.	ENSG00000245848	ENST00000498907	.	.	.	3.93	2.89	0.33648	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.1768	0.25749	0.2127:0.0:0.7873:0.0	.	.	.	.	X	67	.	ENSP00000427514:Y67X	Y	-	3	2	CEBPA	38484960	1.000000	0.71417	1.000000	0.80357	0.663000	0.39108	5.273000	0.65564	0.631000	0.30412	0.282000	0.19409	TAC		0.751	CEBPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365012.1	NM_004364		T	33793120	G	T	33793120	4	4	775	1	0	0	0	0	0	1	0	0	3201	1372	48	4	879	4	CEBPA	19	33793120	Nonsense_Mutation	SNP	G	TCGA-P4-A5EB-01A-11D-A28G-10	12	33793120	25335863	122	45856			1	126		2	2	13	G		5.349263e-05
WTIP	126374	hgsc.bcm.edu	37	19	34991065	34991065	+	Missense_Mutation	SNP	G	G	A			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr19:34991065G>A	ENST00000590071.2	+	8	1521	c.1184G>A	c.(1183-1185)gGa>gAa	p.G395E	WTIP_ENST00000270288.6_Missense_Mutation_p.G619E	NM_001080436.1	NP_001073905.1	A6NIX2	WTIP_HUMAN	Wilms tumor 1 interacting protein	395	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cytoskeleton organization (GO:0007010)|gene silencing by miRNA (GO:0035195)|negative regulation of hippo signaling (GO:0035331)|positive regulation of gene silencing by miRNA (GO:2000637)|regulation of cell morphogenesis (GO:0022604)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasmic mRNA processing body (GO:0000932)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(1)	4	all_lung(56;5.94e-07)|Lung NSC(56;9.35e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			GGGGAGGAGGGACGCCGTTGC	0.667																																																0													32	40	38					19																	34991065		2142	4235	6377	SO:0001583	missense	126374			AK130059	CCDS59375.1	19q13.11	2012-03-16			ENSG00000142279	ENSG00000142279			20964	protein-coding gene	gene with protein product	"WT1-interacting protein"	614790				14736876	Standard	NM_001080436		Approved		uc002nvm.3	A6NIX2		ENST00000590071.2:c.1184G>A	chr19.hg19:g.34991065G>A	ENSP00000466953:p.Gly395Glu			Missense_Mutation	SNP	ENST00000590071.2	hg19	CCDS59375.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.337153	0.60963	.	.	ENSG00000142279	ENST00000270288	T	0.63580	-0.05	4.35	4.35	0.52113	Zinc finger, LIM-type (4);	0.000000	0.85682	D	0.000000	T	0.72835	0.3510	M	0.76838	2.35	0.80722	D	1	P	0.37370	0.592	P	0.47528	0.549	T	0.77760	-0.2467	10	0.66056	D	0.02	.	15.9833	0.80130	0.0:0.0:1.0:0.0	.	619	A6NIX2	WTIP_HUMAN	E	619	ENSP00000270288:G619E	ENSP00000270288:G619E	G	+	2	0	WTIP	39682905	1.000000	0.71417	0.991000	0.47740	0.294000	0.27393	9.098000	0.94202	2.101000	0.63845	0.305000	0.20034	GGA		0.667	WTIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459381.3	XM_059037		A	34991065	G	A	34991065	3	1	775	1	0	0	0	0	1	0	0	0	17415	1174	41	2	1214	2	WTIP	19	34991065	Missense_Mutation	SNP	G	TCGA-P4-A5EB-01A-11D-A28G-10	1197945	34991065	24137918	123	45857											
LSR	51599	hgsc.bcm.edu	37	19	35758028	35758028	+	Silent	SNP	C	C	A			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr19:35758028C>A	ENST00000361790.3	+	9	1464	c.1305C>A	c.(1303-1305)acC>acA	p.T435T	USF2_ENST00000343550.5_5'Flank|LSR_ENST00000347609.4_Silent_p.T377T|USF2_ENST00000222305.3_5'Flank|USF2_ENST00000379134.3_5'Flank|LSR_ENST00000354900.3_Silent_p.T416T|LSR_ENST00000602122.1_Silent_p.T415T|USF2_ENST00000594064.1_5'Flank|LSR_ENST00000360798.3_Silent_p.T367T|USF2_ENST00000595068.1_5'Flank|LSR_ENST00000427250.1_Silent_p.T279T|AD000684.2_ENST00000602262.1_RNA	NM_205834.3	NP_991403.1	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	435					embryo development (GO:0009790)|liver development (GO:0001889)	chylomicron (GO:0042627)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GTGAAGTCACCTCCCTCCACG	0.677																																																0													31	40	37					19																	35758028		2134	4246	6380	SO:0001819	synonymous_variant	51599			AF130366	CCDS12449.1, CCDS12450.1, CCDS12451.1, CCDS59376.1	19q13.12	2013-01-11			ENSG00000105699	ENSG00000105699		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29572	protein-coding gene	gene with protein product	"lipolysis-stimulated remnant", "immunoglobulin-like domain containing receptor 3"					10224102	Standard	NM_015925		Approved	LISCH7, ILDR3	uc002nyl.3	Q86X29		ENST00000361790.3:c.1305C>A	chr19.hg19:g.35758028C>A			A6NDW3|B4DKL4|E9PHD4|O00112|O00426|Q6ZT80|Q8NBM0|Q9BT33|Q9UQL3	Silent	SNP	ENST00000361790.3	hg19	CCDS12450.1																																																																																				0.677	LSR-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465513.2	NM_015925		A	35758028	C	A	35758028	2	1	775	1	0	0	0	0	0	0	0	1	9066	668	24	4		4	LSR	19	35758028	Silent	SNP	C	TCGA-P4-A5EB-01A-11D-A28G-10	766963	35758028	23370955	124	45858											
FCGBP	8857	hgsc.bcm.edu	37	19	40357745	40357745	+	Missense_Mutation	SNP	G	G	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr19:40357745G>T	ENST00000221347.6	-	34	15575	c.15568C>A	c.(15568-15570)Ctg>Atg	p.L5190M		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5190	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)			TCTGAGGTCAGCAGGGAGGAG	0.577																																																0													52	48	49					19																	40357745		2203	4300	6503	SO:0001583	missense	8857			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.15568C>A	chr19.hg19:g.40357745G>T	ENSP00000221347:p.Leu5190Met		O95784	Missense_Mutation	SNP	ENST00000221347.6	hg19	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.321017	0.41096	.	.	ENSG00000090920	ENST00000221347	T	0.05649	3.41	4.69	1.09	0.20402	.	0.754197	0.11458	N	0.562013	T	0.07728	0.0194	L	0.28694	0.88	0.22796	N	0.99872	P	0.46395	0.877	P	0.51016	0.656	T	0.39702	-0.9601	10	0.23302	T	0.38	.	7.3143	0.26491	0.0:0.3807:0.4452:0.1741	.	5190	Q9Y6R7	FCGBP_HUMAN	M	5190	ENSP00000221347:L5190M	ENSP00000221347:L5190M	L	-	1	2	FCGBP	45049585	0.892000	0.30473	0.997000	0.53966	0.846000	0.48090	0.111000	0.15458	0.563000	0.29222	0.655000	0.94253	CTG		0.577	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		T	40357745	G	T	40357745	3	4	775	1	0	0	0	0	1	0	0	0	5780	962	34	4	661	4	FCGBP	19	40357745	Missense_Mutation	SNP	G	TCGA-P4-A5EB-01A-11D-A28G-10	4599717	40357745	18771238	125	45859											
HRC	3270	hgsc.bcm.edu	37	19	49657889	49657889	+	Silent	SNP	T	T	C	rs57199624|rs147238387|rs551367394|rs542091249		TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr19:49657889T>C	ENST00000252825.4	-	1	792	c.606A>G	c.(604-606)gaA>gaG	p.E202E	HRC_ENST00000595625.1_Silent_p.E202E	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	202	4 X tandem repeats, acidic.|6 X approximate tandem repeats.|Glu-rich (acidic).				cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		AGGcctcctcttcctcctcct	0.567																																					Melanoma(37;75 1097 24567 25669 30645)											0													122	91	101					19																	49657889		2203	4300	6503	SO:0001819	synonymous_variant	3270				CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"histidine-rich calcium-binding protein"			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.606A>G	chr19.hg19:g.49657889T>C			Q504Y6	Silent	SNP	ENST00000252825.4	hg19	CCDS12759.1																																																																																				0.567	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152		C	49657889	T	C	49657889	2	2	775	1	0	0	0	0	0	0	0	1	7354	1606	56	3		3	HRC	19	49657889	Silent	SNP	T	TCGA-P4-A5EB-01A-11D-A28G-10	9300144	49657889	9471094	126	45860											
NUP62	23636	hgsc.bcm.edu	37	19	50412996	50412996	+	Silent	SNP	C	C	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr19:50412996C>T	ENST00000596217.1	-	2	1956	c.69G>A	c.(67-69)acG>acA	p.T23T	NUP62_ENST00000413454.1_Silent_p.T23T|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000422090.2_Silent_p.T23T|CTC-326K19.6_ENST00000451973.1_3'UTR|NUP62_ENST00000597029.1_Silent_p.T23T|NUP62_ENST00000600583.1_5'UTR|NUP62_ENST00000597723.1_Silent_p.T23T|IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000352066.3_Silent_p.T23T			P37198	NUP62_HUMAN	nucleoporin 62kDa	23	15 X 9 AA approximate repeats.|Thr-rich.				carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|hormone-mediated signaling pathway (GO:0009755)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of programmed cell death (GO:0043069)|negative regulation of Ras protein signal transduction (GO:0046580)|nucleocytoplasmic transport (GO:0006913)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of Ras protein signal transduction (GO:0046578)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleocytoplasmic shuttling complex (GO:0031074)|pore complex (GO:0046930)|ribonucleoprotein complex (GO:0030529)	chromatin binding (GO:0003682)|receptor signaling complex scaffold activity (GO:0030159)|SH2 domain binding (GO:0042169)|structural constituent of nuclear pore (GO:0017056)|thyroid hormone receptor binding (GO:0046966)|ubiquitin binding (GO:0043130)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TGGTTGTTGCCGTCTTTGCAG	0.567																																																0													48	55	53					19																	50412996		2203	4300	6503	SO:0001819	synonymous_variant	23636			X58521	CCDS12788.1	19q13.33	2013-09-20	2002-08-29		ENSG00000213024	ENSG00000213024			8066	protein-coding gene	gene with protein product	"nuclear pore glycoprotein p62"	605815	"nucleoporin 62kD"			1915414	Standard	NM_016553		Approved	p62, DKFZp547L134, IBSN, SNDI, MGC841, FLJ20822, FLJ43869	uc002pqx.3	P37198	OTTHUMG00000183077	ENST00000596217.1:c.69G>A	chr19.hg19:g.50412996C>T			B3KWU5|Q503A4|Q6GTM2|Q96C43|Q9NSL1	Silent	SNP	ENST00000596217.1	hg19	CCDS12788.1																																																																																				0.567	NUP62-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464991.1	NM_153719		T	50412996	C	T	50412996	2	4	775	1	0	0	0	0	0	0	0	1	10770	639	23	1		1	NUP62	19	50412996	Silent	SNP	C	TCGA-P4-A5EB-01A-11D-A28G-10	755107	50412996	8715987	127	45861											
MBOAT7	79143	hgsc.bcm.edu	37	19	54687463	54687463	+	Missense_Mutation	SNP	T	T	A			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr19:54687463T>A	ENST00000245615.1	-	5	914	c.434A>T	c.(433-435)gAc>gTc	p.D145V	MBOAT7_ENST00000391754.1_Missense_Mutation_p.D145V|MBOAT7_ENST00000474910.1_5'UTR|MBOAT7_ENST00000431666.2_Missense_Mutation_p.D72V|MBOAT7_ENST00000338624.6_Missense_Mutation_p.D72V	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	145					glycerophospholipid biosynthetic process (GO:0046474)|layer formation in cerebral cortex (GO:0021819)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|ventricular system development (GO:0021591)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipid acyltransferase activity (GO:0071617)			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GGAGGGCACGTCGGGCAGCAG	0.617																																					NSCLC(97;826 2151 10470 22540)											0													105	84	91					19																	54687463		2203	4300	6503	SO:0001583	missense	79143			AF211969	CCDS12883.1, CCDS54315.1, CCDS54316.1	19q13.4	2008-12-15	2008-01-17	2008-01-17	ENSG00000125505	ENSG00000125505			15505	protein-coding gene	gene with protein product	"lysophosphatidylinositol acyltransferase"	606048	"leukocyte receptor cluster (LRC) member 4"	LENG4		10941842, 8702217, 18094042	Standard	NM_024298		Approved	BB1, hMBOA-7, LPIAT	uc002qdr.3	Q96N66	OTTHUMG00000066516	ENST00000245615.1:c.434A>T	chr19.hg19:g.54687463T>A	ENSP00000245615:p.Asp145Val		A9C4B6|B0V3I5|B4DQ87|Q05DF0|Q7L5N2|Q99908|Q9BPV2|Q9BRE9	Missense_Mutation	SNP	ENST00000245615.1	hg19	CCDS12883.1	.	.	.	.	.	.	.	.	.	.	T	8.074	0.770996	0.15983	.	.	ENSG00000125505	ENST00000431666;ENST00000338624;ENST00000245615;ENST00000449249;ENST00000391754;ENST00000414665;ENST00000453320	T;T;T;T;T	0.72835	-0.69;-0.69;-0.69;-0.69;-0.69	4.2	1.95	0.26073	.	0.659654	0.15733	N	0.247337	T	0.46718	0.1407	N	0.20685	0.6	0.09310	N	1	B;B;B	0.30973	0.033;0.302;0.033	B;B;B	0.21917	0.023;0.037;0.023	T	0.28650	-1.0037	10	0.40728	T	0.16	-2.1121	4.0508	0.09795	0.0:0.1914:0.1877:0.6209	.	127;72;145	B4DDH8;Q96N66-2;Q96N66	.;.;MBOA7_HUMAN	V	72;72;145;97;145;145;145	ENSP00000410503:D72V;ENSP00000344377:D72V;ENSP00000245615:D145V;ENSP00000375634:D145V;ENSP00000388250:D145V	ENSP00000245615:D145V	D	-	2	0	MBOAT7	59379275	0.001000	0.12720	0.058000	0.19502	0.792000	0.44763	1.025000	0.30090	1.714000	0.51371	0.363000	0.22086	GAC		0.617	MBOAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142203.1	NM_024298		A	54687463	T	A	54687463	3	1	775	1	0	0	0	0	1	0	0	0	9360	1667	58	5	1004	5	MBOAT7	19	54687463	Missense_Mutation	SNP	T	TCGA-P4-A5EB-01A-11D-A28G-10	4274467	54687463	4441520	128	45862											
ZNF814	730051	hgsc.bcm.edu	37	19	58385280	58385281	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	TG	TG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr19:58385280_58385281delTG	ENST00000435989.2	-	3	1711_1712	c.1477_1478delCA	c.(1477-1479)cagfs	p.Q493fs	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597342.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	493					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						TTCTCCACACTGATAAGGTCTT	0.47																																																0																																										SO:0001589	frameshift_variant	730051				CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1477_1478delCA	chr19.hg19:g.58385280_58385281delTG	ENSP00000410545:p.Gln493fs		A6NF35	Frame_Shift_Del	DEL	ENST00000435989.2	hg19	CCDS46212.1																																																																																				0.47	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		-	58385281	TG	-	58385280	7	5	775	1	0	1	0	1	0	0	0	0	18181	1580	55	0	1093	0	ZNF814	19	58385280	Frame_Shift_Del	DEL	TG	TCGA-P4-A5EB-01A-11D-A28G-10	3697817	58385280	743703	129	45863											
KCNK15	140730	hgsc.bcm.edu	37	20	43378853	43378853	+	IGR	SNP	G	G	A			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr20:43378853G>A	ENST00000372851.3	-	0	5203				KCNK15_ENST00000372861.3_Missense_Mutation_p.V123I	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4						exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)|synaptic membrane (GO:0097060)				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				GCTGACGCTGGTCACTTTCCA	0.682																																																0													35	31	33					20																	43378853		2203	4300	6503	SO:0001628	intergenic_variant	60598				CCDS13338.1, CCDS56191.1	20q13.12	2005-02-03	2003-06-18	2003-06-20	ENSG00000101098	ENSG00000101098			16183	protein-coding gene	gene with protein product		611601	"chromosome 20 open reading frame 190"	C20orf190		12620390	Standard	NM_182970		Approved	dJ781B1.3	uc010ggu.3	Q9H426	OTTHUMG00000032546		chr20.hg19:g.43378853G>A			A4FU94|E1P613|Q3MI44|Q5JWT7	Missense_Mutation	SNP	ENST00000372851.3	hg19	CCDS13338.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.418600	0.83559	.	.	ENSG00000124249	ENST00000372861	T	0.28454	1.61	4.08	4.08	0.47627	Ion transport 2 (1);	0.000000	0.64402	U	0.000004	T	0.43100	0.1232	L	0.31578	0.945	0.54753	D	0.999989	D	0.69078	0.997	D	0.72075	0.976	T	0.38351	-0.9665	10	0.45353	T	0.12	.	16.4786	0.84151	0.0:0.0:1.0:0.0	.	123	Q9H427	KCNKF_HUMAN	I	123	ENSP00000361952:V123I	ENSP00000361952:V123I	V	+	1	0	KCNK15	42812267	1.000000	0.71417	0.999000	0.59377	0.904000	0.53231	6.347000	0.73004	2.095000	0.63458	0.655000	0.94253	GTC		0.682	RIMS4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000101027.2	NM_182970		A	43378853	G	A	43378853	1	1	775	0	1	0	0	0	0	0	0	0	8064	1261	44	2		2	KCNK15	20	43378853	IGR	SNP	G	TCGA-P4-A5EB-01A-11D-A28G-10		43378853	19646667	130	45864											
LIPI	149998	hgsc.bcm.edu	37	21	15554119	15554119	+	Silent	SNP	C	C	T	rs368826576		TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr21:15554119C>T	ENST00000536861.1	-	4	602	c.603G>A	c.(601-603)acG>acA	p.T201T	LIPI_ENST00000344577.2_Silent_p.T222T			Q6XZB0	LIPI_HUMAN	lipase, member I	201					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)		ACTTTGCATCCGTGTAATCTA	0.388																																																0								A		0,4406		0,0,2203	104	98	100		666	-5.4	0.9	21		100	1,8599		0,1,4299	no	coding-synonymous	LIPI	NM_198996.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		222/482	15554119	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	149998			BC028732	CCDS13564.1	21q11.2	2012-07-31			ENSG00000188992	ENSG00000188992			18821	protein-coding gene	gene with protein product	"membrane-associated phospholipase A1 beta", "cancer/testis antigen 17"	609252				12719377	Standard	XM_005260924		Approved	PRED5, LPDL, CT17, mPA-PLA1beta, PLA1C	uc002yjm.3	Q6XZB0	OTTHUMG00000074258	ENST00000536861.1:c.603G>A	chr21.hg19:g.15554119C>T			G1JSG3|G1JSG4|G1JSG5|G1JSG6|G1JSG7|G1JSG8|G1JSG9	Silent	SNP	ENST00000536861.1	hg19		.	.	.	.	.	.	.	.	.	.	A	8.536	0.872084	0.17322	0.0	1.16E-4	ENSG00000188992	ENST00000400211	.	.	.	5.46	-5.41	0.02648	.	.	.	.	.	T	0.35508	0.0934	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36648	-0.9739	4	.	.	.	.	1.1112	0.01704	0.2909:0.094:0.2357:0.3795	.	.	.	.	R	81	.	.	G	-	1	0	LIPI	14475990	0.021000	0.18746	0.905000	0.35620	0.056000	0.15407	-0.820000	0.04457	-1.108000	0.03000	-4.655000	0.00004	GGA		0.388	LIPI-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_198996		T	15554119	C	T	15554119	2	4	775	1	0	0	0	0	0	0	0	1	8827	639	23	1		1	LIPI	21	15554119	Silent	SNP	C	TCGA-P4-A5EB-01A-11D-A28G-10		15554119	32575776	131	45865											
NCAM2	4685	hgsc.bcm.edu	37	21	22906941	22906941	+	Missense_Mutation	SNP	A	A	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr21:22906941A>T	ENST00000400546.1	+	17	2615	c.2366A>T	c.(2365-2367)aAt>aTt	p.N789I	NCAM2_ENST00000284894.7_Missense_Mutation_p.N647I	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	789					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)		AGCCCAGTAAATGAGCCAAAT	0.393																																																0													113	108	109					21																	22906941		1920	4124	6044	SO:0001583	missense	4685				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.2366A>T	chr21.hg19:g.22906941A>T	ENSP00000383392:p.Asn789Ile		A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	ENST00000400546.1	hg19	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.935591	0.73442	.	.	ENSG00000154654	ENST00000400546;ENST00000284894	T;T	0.44083	0.93;0.93	5.49	5.49	0.81192	.	0.210687	0.48286	D	0.000186	T	0.49729	0.1574	L	0.41236	1.265	0.80722	D	1	D;D	0.61697	0.99;0.985	P;P	0.56398	0.797;0.724	T	0.49978	-0.8881	10	0.54805	T	0.06	-29.9197	14.4086	0.67101	1.0:0.0:0.0:0.0	.	647;789	B7Z5K2;O15394	.;NCAM2_HUMAN	I	789;647	ENSP00000383392:N789I;ENSP00000284894:N647I	ENSP00000284894:N647I	N	+	2	0	NCAM2	21828812	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	6.778000	0.75043	2.088000	0.63022	0.377000	0.23210	AAT		0.393	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		T	22906941	A	T	22906941	3	4	775	1	0	0	0	0	1	0	0	0	10205	101	4	5	2432	5	NCAM2	21	22906941	Missense_Mutation	SNP	A	TCGA-P4-A5EB-01A-11D-A28G-10	7352822	22906941	25222954	132	45866											
PLAC4	25825	hgsc.bcm.edu	37	21	42551431	42551431	+	Intron	SNP	C	C	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr21:42551431C>T	ENST00000330333.6	+	1	775				PLAC4_ENST00000430327.2_RNA|PLAC4_ENST00000414699.1_RNA|PLAC4_ENST00000440221.2_RNA|BACE2_ENST00000347667.5_Intron|PLAC4_ENST00000536486.1_RNA|BACE2-IT1_ENST00000433378.1_RNA|BACE2_ENST00000328735.6_Intron	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2						membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				GTGACGGTGTCTGGGGTGAGT	0.607																																																0													125	109	114					21																	42551431		2196	4274	6470	SO:0001627	intron_variant	191585			AF117892	CCDS13668.1, CCDS13669.1, CCDS13670.1	21q22.3	2011-08-11			ENSG00000182240	ENSG00000182240			934	protein-coding gene	gene with protein product		605668		AEPLC		10965118, 10830953	Standard	NM_138991		Approved	CEAP1, DRAP, ALP56	uc002yyw.3	Q9Y5Z0	OTTHUMG00000086742	ENST00000330333.6:c.312+10929C>T	chr21.hg19:g.42551431C>T			A8K7P1|Q5DIH8|Q8N2D4|Q9H2V8|Q9NZL1|Q9NZL2|Q9UJT6	Missense_Mutation	SNP	ENST00000330333.6	hg19	CCDS13668.1																																																																																				0.607	BACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195056.1			T	42551431	C	T	42551431	1	4	775	0	1	0	0	0	0	0	0	0	12016	913	32	2		2	PLAC4	21	42551431	Intron	SNP	C	TCGA-P4-A5EB-01A-11D-A28G-10	19644490	42551431	5578464	133	45867											
SHANK3	85358	hgsc.bcm.edu	37	22	51160316	51160316	+	Missense_Mutation	SNP	C	C	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr22:51160316C>T	ENST00000414786.2	+	21	4240	c.4013C>T	c.(4012-4014)gCa>gTa	p.A1338V	SHANK3_ENST00000262795.3_Missense_Mutation_p.A1368V|SHANK3_ENST00000445220.2_Missense_Mutation_p.A1354V			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	1352	Pro-rich.				adult behavior (GO:0030534)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|brain morphogenesis (GO:0048854)|dendritic spine morphogenesis (GO:0060997)|guanylate kinase-associated protein clustering (GO:0097117)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell volume (GO:0045794)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glutamate receptor signaling pathway (GO:1900451)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse structural plasticity (GO:0051835)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density assembly (GO:0097107)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of long term synaptic depression (GO:1900452)|regulation of long-term synaptic potentiation (GO:1900271)|social behavior (GO:0035176)|striatal medium spiny neuron differentiation (GO:0021773)|synapse assembly (GO:0007416)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|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)		BRCA - Breast invasive adenocarcinoma(115;0.22)		CCTGAGTCTGCAGCCGACTCT	0.701																																																0													9	11	10					22																	51160316		1919	4032	5951	SO:0001583	missense	85358			AB051437		22q13.3	2013-11-14			ENSG00000251322	ENSG00000251322		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14294	protein-coding gene	gene with protein product	"proline rich synapse associated protein 2", "shank postsynaptic density protein"	606230				11258795, 11431708, 10806096, 17173049	Standard	NM_033517		Approved	SPANK-2, prosap2, KIAA1650, PSAP2	uc031ryd.1	Q9BYB0	OTTHUMG00000150169	ENST00000414786.2:c.4013C>T	chr22.hg19:g.51160316C>T	ENSP00000464552:p.Ala1338Val		D7UT47|Q8TET3	Missense_Mutation	SNP	ENST00000414786.2	hg19		.	.	.	.	.	.	.	.	.	.	C	8.474	0.858312	0.17178	.	.	ENSG00000251322	ENST00000262795;ENST00000445220	T;T	0.13089	2.62;2.62	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.13543	0.0328	N	0.24115	0.695	0.27140	N	0.961671	D;P;D	0.56521	0.97;0.941;0.976	P;B;B	0.51895	0.683;0.43;0.441	T	0.12837	-1.0532	10	0.02654	T	1	.	16.0382	0.80645	0.0:1.0:0.0:0.0	.	1352;1353;1368	D7UT47;Q9BYB0;F2Z3L0	.;SHAN3_HUMAN;.	V	1368;1354	ENSP00000442518:A1368V;ENSP00000446078:A1354V	ENSP00000442518:A1368V	A	+	2	0	SHANK3	49507182	1.000000	0.71417	0.900000	0.35374	0.856000	0.48823	5.501000	0.66950	2.381000	0.81170	0.462000	0.41574	GCA		0.701	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000316674.2	NM_001080420		T	51160316	C	T	51160316	3	4	775	1	0	0	0	0	1	0	0	0	14272	710	25	2	4189	2	SHANK3	22	51160316	Missense_Mutation	SNP	C	TCGA-P4-A5EB-01A-11D-A28G-10		51160316	144250	134	45868											
OFD1	8481	hgsc.bcm.edu	37	X	13762547	13762547	+	Frame_Shift_Del	DEL	T	T	-			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chrX:13762547delT	ENST00000340096.6	+	6	753	c.426delT	c.(424-426)catfs	p.H142fs	OFD1_ENST00000398395.3_Frame_Shift_Del_p.H142fs|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380550.3_Frame_Shift_Del_p.H142fs|OFD1_ENST00000380567.1_Frame_Shift_Del_p.H2fs	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	142					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						TTCTTATGCATTTTTTAAAAG	0.308																																																0													66	59	61					X																	13762547		2203	4299	6502	SO:0001589	frameshift_variant	8481			Y15164	CCDS14157.1	Xp22	2014-06-18			ENSG00000046651	ENSG00000046651			2567	protein-coding gene	gene with protein product		300170	"retinitis pigmentosa 23 (X-linked recessive)"	CXorf5, RP23		9722947, 9215688, 22619378	Standard	NM_003611		Approved	71-7A, JBTS10	uc004cvp.4	O75665	OTTHUMG00000021159	ENST00000340096.6:c.426delT	chrX.hg19:g.13762547delT	ENSP00000344314:p.His142fs		B9ZVU5|O75666|Q4VAK4	Frame_Shift_Del	DEL	ENST00000340096.6	hg19	CCDS14157.1																																																																																				0.308	OFD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055808.1	NM_003611		-	13762547	T	-	13762547	7	5	775	1	0	1	0	1	0	0	0	0	10840	1490	52	0	448	0	OFD1	23	13762547	Frame_Shift_Del	DEL	T	TCGA-P4-A5EB-01A-11D-A28G-10		13762547	141508013	135	45869											
DMD	1756	hgsc.bcm.edu	37	X	32305751	32305751	+	Missense_Mutation	SNP	G	G	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chrX:32305751G>T	ENST00000357033.4	-	43	6391	c.6185C>A	c.(6184-6186)gCa>gAa	p.A2062E	DMD_ENST00000378677.2_Missense_Mutation_p.A2058E	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	2062					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)				ACTTTGCAATGCTGCTGTCTT	0.368																																																0													131	105	114					X																	32305751		2202	4300	6502	SO:0001583	missense	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.6185C>A	chrX.hg19:g.32305751G>T	ENSP00000354923:p.Ala2062Glu		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	hg19	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	G	8.237	0.805865	0.16467	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.35048	1.33;1.33	4.36	2.59	0.31030	.	0.000000	0.36778	U	0.002408	T	0.28830	0.0715	L	0.53249	1.67	0.80722	D	1	B;P;B;B;B	0.38677	0.275;0.642;0.322;0.259;0.44	B;B;B;B;B	0.34418	0.088;0.182;0.144;0.138;0.096	T	0.05835	-1.0861	10	0.72032	D	0.01	.	7.2118	0.25937	0.3674:0.0:0.6326:0.0	.	2054;2062;2058;721;718	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	E	2054;721;718;2058;2062;2062;1939	ENSP00000367948:A2058E;ENSP00000354923:A2062E	ENSP00000354923:A2062E	A	-	2	0	DMD	32215672	0.996000	0.38824	0.224000	0.23877	0.172000	0.22775	2.060000	0.41394	0.416000	0.25844	-0.191000	0.12829	GCA		0.368	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		T	32305751	G	T	32305751	3	4	775	1	0	0	0	0	1	0	0	0	4582	1319	46	4	5168	4	DMD	23	32305751	Missense_Mutation	SNP	G	TCGA-P4-A5EB-01A-11D-A28G-10	18543204	32305751	122964809	136	45870											
BMP15	9210	hgsc.bcm.edu	37	X	50658768	50658768	+	Missense_Mutation	SNP	A	A	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chrX:50658768A>T	ENST00000252677.3	+	2	340	c.340A>T	c.(340-342)Ata>Tta	p.I114L		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	114					female gamete generation (GO:0007292)|granulosa cell development (GO:0060016)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					TACCTGGCATATACAGATCCT	0.438																																																0													95	90	91					X																	50658768		2203	4299	6502	SO:0001583	missense	9210			AF082349	CCDS14334.1	Xp11.2	2013-02-06			ENSG00000130385	ENSG00000130385		"Bone morphogenetic proteins"	1068	protein-coding gene	gene with protein product		300247				9849956	Standard	NM_005448		Approved	GDF9B	uc011mnw.2	O95972	OTTHUMG00000021525	ENST00000252677.3:c.340A>T	chrX.hg19:g.50658768A>T	ENSP00000252677:p.Ile114Leu		Q17RM6|Q5JST1|Q9UMS1	Missense_Mutation	SNP	ENST00000252677.3	hg19	CCDS14334.1	.	.	.	.	.	.	.	.	.	.	a	2.291	-0.362548	0.05103	.	.	ENSG00000130385	ENST00000252677	T	0.77489	-1.1	5.42	-3.73	0.04398	.	1.153060	0.05985	N	0.645013	T	0.69006	0.3063	M	0.65975	2.015	0.09310	N	1	B	0.19583	0.037	B	0.16289	0.015	T	0.49214	-0.8963	10	0.10377	T	0.69	.	6.9598	0.24591	0.3592:0.0:0.4995:0.1413	.	114	O95972	BMP15_HUMAN	L	114	ENSP00000252677:I114L	ENSP00000252677:I114L	I	+	1	0	BMP15	50675508	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.129000	0.10515	-0.754000	0.04715	-0.670000	0.03821	ATA		0.438	BMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056572.1	NM_005448		T	50658768	A	T	50658768	3	4	775	1	0	0	0	0	1	0	0	0	1458	449	16	5	346	5	BMP15	23	50658768	Missense_Mutation	SNP	A	TCGA-P4-A5EB-01A-11D-A28G-10	18353017	50658768	104611792	137	45871											
UBQLN2	29978	hgsc.bcm.edu	37	X	56592091	56592092	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	AA	AA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chrX:56592091_56592092delAA	ENST00000338222.5	+	1	2066_2067	c.1785_1786delAA	c.(1783-1788)ttaaacfs	p.N596fs		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	596	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				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						TGGGGTTCTTAAACCGTGAAGC	0.515																																					Esophageal Squamous(104;218 1492 6022 10838 28884)											0																																										SO:0001589	frameshift_variant	29978			AF189009	CCDS14374.1	Xp11.21	2014-09-17			ENSG00000188021	ENSG00000188021		"Ubiquilin family"	12509	protein-coding gene	gene with protein product	"NEDD4 binding protein 4"	300264				10675567	Standard	NM_013444		Approved	Chap1, Dsk2, RIHFB2157, LIC-2, CHAP1/DSK2, PLIC-2, N4BP4, PLIC2	uc004dus.3	Q9UHD9	OTTHUMG00000021669	ENST00000338222.5:c.1785_1786delAA	chrX.hg19:g.56592091_56592092delAA	ENSP00000345195:p.Asn596fs		O94798|Q5D027|Q9H3W6|Q9HAZ4	Frame_Shift_Del	DEL	ENST00000338222.5	hg19	CCDS14374.1																																																																																				0.515	UBQLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056891.1	NM_013444		-	56592092	AA	-	56592091	7	5	775	1	0	1	0	1	0	0	0	0	16902	359	13	0	1787	0	UBQLN2	23	56592091	Frame_Shift_Del	DEL	AA	TCGA-P4-A5EB-01A-11D-A28G-10	5933323	56592091	98678469	138	45872											
UPRT	139596	hgsc.bcm.edu	37	X	74494317	74494318	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10	AG	AG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chrX:74494317_74494318delAG	ENST00000373383.4	+	1	395_396	c.228_229delAG	c.(226-231)tcagagfs	p.E77fs	UPRT_ENST00000530743.1_5'Flank|UPRT_ENST00000373379.1_Frame_Shift_Del_p.E77fs|UPRT_ENST00000531704.1_3'UTR	NM_145052.3	NP_659489.1	Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae)	77					female pregnancy (GO:0007565)|lactation (GO:0007595)|response to insulin (GO:0032868)|UMP biosynthetic process (GO:0006222)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4)	18						GCCTCAACTCAGAGGGCAACAG	0.639																																																0																																										SO:0001589	frameshift_variant	139596			BC015116	CCDS14429.1	Xq13.3	2009-01-14			ENSG00000094841	ENSG00000094841			28334	protein-coding gene	gene with protein product		300656				12477932	Standard	NM_145052		Approved	DKFZp781E1243, MGC23937, FUR1, RP11-311P8.3	uc004ecb.2	Q96BW1	OTTHUMG00000021864	ENST00000373383.4:c.228_229delAG	chrX.hg19:g.74494319_74494320delAG	ENSP00000362481:p.Glu77fs		Q5JRL1|Q5JRL3|Q68DN0|Q96MW2	Frame_Shift_Del	DEL	ENST00000373383.4	hg19	CCDS14429.1																																																																																				0.639	UPRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057278.1	NM_145052		-	74494318	AG	-	74494317	7	5	775	1	0	1	0	1	0	0	0	0	17019	175	7	0	230	0	UPRT	23	74494317	Frame_Shift_Del	DEL	AG	TCGA-P4-A5EB-01A-11D-A28G-10	17902226	74494317	80776243	139	45873											
DCLRE1B	64858	hgsc.bcm.edu	37	1	114454514	114454514	+	Missense_Mutation	SNP	C	C	T			TCGA-P4-A5ED-01A-11D-A28G-10	TCGA-P4-A5ED-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	79d11c73-74ff-468d-b0e9-b8ddc72de15a	1bc9f60c-2dc6-4bfe-9965-6014f49dc9ac	g.chr1:114454514C>T	ENST00000369563.3	+	4	1746	c.1300C>T	c.(1300-1302)Cac>Tac	p.H434Y	DCLRE1B_ENST00000466480.1_Intron	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	434					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|protection from non-homologous end joining at telomere (GO:0031848)|telomere maintenance (GO:0000723)|telomeric 3' overhang formation (GO:0031860)|telomeric loop formation (GO:0031627)	centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATTTTCAGTGCACTTAAGGTC	0.473								Other identified genes with known or suspected DNA repair function																																								0													168	186	180					1																	114454514		2203	4300	6503	SO:0001583	missense	64858			BC029687	CCDS866.1	1p11.1	2010-06-24	2010-06-24		ENSG00000118655	ENSG00000118655			17641	protein-coding gene	gene with protein product	"APOLLO", "PSO2 homolog (S. cerevisiae)"	609683	"DNA cross-link repair 1B (PSO2 homolog, S. cerevisiae)"				Standard	NM_022836		Approved	SNM1B, FLJ12810, FLJ13998	uc001eeg.3	Q9H816	OTTHUMG00000011937	ENST00000369563.3:c.1300C>T	chr1.hg19:g.114454514C>T	ENSP00000358576:p.His434Tyr		Q9H9E5	Missense_Mutation	SNP	ENST00000369563.3	hg19	CCDS866.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.075166	0.55646	.	.	ENSG00000118655	ENST00000369563	T	0.75260	-0.92	5.75	2.18	0.27775	.	1.219440	0.05575	N	0.571775	T	0.42086	0.1187	L	0.27053	0.805	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.42241	-0.9463	10	0.66056	D	0.02	-11.1736	5.1932	0.15220	0.2671:0.6065:0.0:0.1264	.	434	Q9H816	DCR1B_HUMAN	Y	434	ENSP00000358576:H434Y	ENSP00000358576:H434Y	H	+	1	0	DCLRE1B	114256037	0.002000	0.14202	0.004000	0.12327	0.624000	0.37722	0.606000	0.24194	1.186000	0.42985	0.655000	0.94253	CAC		0.473	DCLRE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033020.2	NM_022836		T	114454514	C	T	114454514	3	4	776	1	0	0	0	0	1	0	0	0	4297	710	25	2	1314	2	DCLRE1B	1	114454514	Missense_Mutation	SNP	C	TCGA-P4-A5ED-01A-11D-A28G-10		114454514	134796107	1	45874											
MTA3	57504	hgsc.bcm.edu	37	2	42886918	42886918	+	Missense_Mutation	SNP	C	C	A			TCGA-P4-A5ED-01A-11D-A28G-10	TCGA-P4-A5ED-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	79d11c73-74ff-468d-b0e9-b8ddc72de15a	1bc9f60c-2dc6-4bfe-9965-6014f49dc9ac	g.chr2:42886918C>A	ENST00000405094.1	+	8	618	c.618C>A	c.(616-618)ttC>ttA	p.F206L	MTA3_ENST00000405592.1_Missense_Mutation_p.F150L|MTA3_ENST00000406652.1_Missense_Mutation_p.F150L|MTA3_ENST00000407270.3_Missense_Mutation_p.F206L|MTA3_ENST00000406911.1_Missense_Mutation_p.F206L			Q9BTC8	MTA3_HUMAN	metastasis associated 1 family, member 3	206	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.					intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						TTGGGACATTCGCCAGAGCCC	0.413																																																0													78	70	72					2																	42886918		1938	4145	6083	SO:0001583	missense	57504			AB033092	CCDS46267.1, CCDS62900.1	2p22.1	2013-01-25	2004-12-15		ENSG00000057935	ENSG00000057935		"GATA zinc finger domain containing"	23784	protein-coding gene	gene with protein product		609050	"metastasis associated gene family, member 3"			12705869, 14613024	Standard	NM_001282755		Approved	KIAA1266	uc002rsq.3	Q9BTC8	OTTHUMG00000150452	ENST00000405094.1:c.618C>A	chr2.hg19:g.42886918C>A	ENSP00000385823:p.Phe206Leu		Q9NSP2|Q9ULF4	Missense_Mutation	SNP	ENST00000405094.1	hg19		.	.	.	.	.	.	.	.	.	.	C	16.73	3.205367	0.58234	.	.	ENSG00000057935	ENST00000405592;ENST00000406652;ENST00000407270;ENST00000282366;ENST00000406911;ENST00000405094	T;T;T;T;T	0.54866	0.55;0.55;0.61;0.59;0.57	4.96	-7.42	0.01388	.	0.000000	0.85682	D	0.000000	T	0.72645	0.3486	M	0.88105	2.93	0.50171	D	0.999857	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.988;0.994;0.999	T	0.80522	-0.1345	10	0.54805	T	0.06	-18.0256	20.3549	0.98835	0.0:0.0897:0.0:0.9103	.	206;206;150	E7EQY4;Q9BTC8-2;D6W5A2	.;.;.	L	150;150;206;206;206;206	ENSP00000383973:F150L;ENSP00000384249:F150L;ENSP00000385045:F206L;ENSP00000385241:F206L;ENSP00000385823:F206L	ENSP00000282366:F206L	F	+	3	2	MTA3	42740422	0.997000	0.39634	0.147000	0.22382	0.489000	0.33432	0.317000	0.19487	-1.514000	0.01786	-0.252000	0.11476	TTC		0.413	MTA3-017	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000318159.1	NM_020744		A	42886918	C	A	42886918	3	1	776	1	0	0	0	0	1	0	0	0	9912	883	31	4	648	4	MTA3	2	42886918	Missense_Mutation	SNP	C	TCGA-P4-A5ED-01A-11D-A28G-10		42886918	200312455	2	45875											
WDSUB1	151525	hgsc.bcm.edu	37	2	160139417	160139417	+	Missense_Mutation	SNP	T	T	C			TCGA-P4-A5ED-01A-11D-A28G-10	TCGA-P4-A5ED-11A-11D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	79d11c73-74ff-468d-b0e9-b8ddc72de15a	1bc9f60c-2dc6-4bfe-9965-6014f49dc9ac	g.chr2:160139417T>C	ENST00000409990.3	-	2	420	c.164A>G	c.(163-165)tAt>tGt	p.Y55C	WDSUB1_ENST00000358147.4_Missense_Mutation_p.Y55C|WDSUB1_ENST00000392796.3_Missense_Mutation_p.Y55C|WDSUB1_ENST00000409124.1_Missense_Mutation_p.Y55C|WDSUB1_ENST00000359774.4_Missense_Mutation_p.Y55C	NM_001128213.1	NP_001121685	Q8N9V3	WSDU1_HUMAN	WD repeat, sterile alpha motif and U-box domain containing 1	55							ubiquitin-protein transferase activity (GO:0004842)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3)	16						GTGGACAGCATAGGTATGAAA	0.443																																																0													138	135	136					2																	160139417		2203	4300	6503	SO:0001583	missense	151525			AK093494	CCDS2208.1	2q24.2	2013-01-28	2006-02-17	2005-03-25	ENSG00000196151	ENSG00000196151		"WD repeat domain containing", "Sterile alpha motif (SAM) domain containing", "U-box domain containing"	26697	protein-coding gene	gene with protein product			"WD repeat and SAM domain containing 1", "WD repeat, SAM and U-box domain containing 1"	WDSAM1		12477932	Standard	NM_152528		Approved	UBOX6, FLJ36175	uc002ual.4	Q8N9V3	OTTHUMG00000132028	ENST00000409990.3:c.164A>G	chr2.hg19:g.160139417T>C	ENSP00000387078:p.Tyr55Cys		Q53TI9|Q8N6N8	Missense_Mutation	SNP	ENST00000409990.3	hg19	CCDS2208.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.360032	0.82353	.	.	ENSG00000196151	ENST00000359774;ENST00000358147;ENST00000392796;ENST00000409990;ENST00000409124	T;T;T;T;T	0.60299	0.2;0.2;0.2;0.2;0.2	5.54	5.54	0.83059	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	0.74359	0.3706	M	0.69185	2.1	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	0.76353	-0.2990	10	0.56958	D	0.05	.	15.6902	0.77446	0.0:0.0:0.0:1.0	.	55;55;55	Q8N9V3-2;B8ZZF2;Q8N9V3	.;.;WSDU1_HUMAN	C	55	ENSP00000352820:Y55C;ENSP00000350866:Y55C;ENSP00000376545:Y55C;ENSP00000387078:Y55C;ENSP00000386891:Y55C	ENSP00000350866:Y55C	Y	-	2	0	WDSUB1	159847663	1.000000	0.71417	0.989000	0.46669	0.987000	0.75469	7.910000	0.87451	2.115000	0.64714	0.528000	0.53228	TAT		0.443	WDSUB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333339.1	NM_152528		C	160139417	T	C	160139417	3	2	776	1	0	0	0	0	1	0	0	0	17346	1406	49	3	1306	3	WDSUB1	2	160139417	Missense_Mutation	SNP	T	TCGA-P4-A5ED-01A-11D-A28G-10	117252499	160139417	83059956	3	45876											
WDFY3	23001	hgsc.bcm.edu	37	4	85675021	85675021	+	Silent	SNP	T	T	C			TCGA-P4-A5ED-01A-11D-A28G-10	TCGA-P4-A5ED-11A-11D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	79d11c73-74ff-468d-b0e9-b8ddc72de15a	1bc9f60c-2dc6-4bfe-9965-6014f49dc9ac	g.chr4:85675021T>C	ENST00000295888.4	-	35	5975	c.5568A>G	c.(5566-5568)caA>caG	p.Q1856Q	WDFY3_ENST00000322366.6_Silent_p.Q1856Q	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1856					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)		CTTCTTCTGATTGCCAAGGCT	0.403																																																0													89	80	83					4																	85675021		2203	4300	6503	SO:0001819	synonymous_variant	23001			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.5568A>G	chr4.hg19:g.85675021T>C			Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Silent	SNP	ENST00000295888.4	hg19	CCDS3609.1																																																																																				0.403	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		C	85675021	T	C	85675021	2	2	776	1	0	0	0	0	0	0	0	1	17275	1490	52	3		3	WDFY3	4	85675021	Silent	SNP	T	TCGA-P4-A5ED-01A-11D-A28G-10		85675021	105479255	4	45877											
SNX2	6643	hgsc.bcm.edu	37	5	122154607	122154607	+	Silent	SNP	T	T	G			TCGA-P4-A5ED-01A-11D-A28G-10	TCGA-P4-A5ED-11A-11D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	79d11c73-74ff-468d-b0e9-b8ddc72de15a	1bc9f60c-2dc6-4bfe-9965-6014f49dc9ac	g.chr5:122154607T>G	ENST00000379516.2	+	11	1209	c.1101T>G	c.(1099-1101)ctT>ctG	p.L367L	SNX2_ENST00000514949.1_Silent_p.L250L|SNX2_ENST00000510372.1_3'UTR	NM_003100.2	NP_003091.2	O60749	SNX2_HUMAN	sorting nexin 2	367					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)|retromer complex (GO:0030904)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)|skin(1)	19		all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109)		TGTCTCAGCTTGCAGAGGTTG	0.393																																																0													124	117	119					5																	122154607		2203	4300	6503	SO:0001819	synonymous_variant	6643			AF043453	CCDS34217.1, CCDS64234.1	5q23.2	2011-05-03			ENSG00000205302	ENSG00000205302		"Sorting nexins"	11173	protein-coding gene	gene with protein product		605929				9819414	Standard	NM_003100		Approved		uc003kte.4	O60749	OTTHUMG00000163020	ENST00000379516.2:c.1101T>G	chr5.hg19:g.122154607T>G			B3KN44|B4DEK4|B7Z408|O43650|P82862|Q53XK8|Q597H6|Q9BTS8	Silent	SNP	ENST00000379516.2	hg19	CCDS34217.1																																																																																				0.393	SNX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371392.1	NM_003100		G	122154607	T	G	122154607	2	3	776	1	0	0	0	0	0	0	0	1	14897	1799	63	5		5	SNX2	5	122154607	Silent	SNP	T	TCGA-P4-A5ED-01A-11D-A28G-10		122154607	58760653	5	45878											
SERPINB6	5269	hgsc.bcm.edu	37	6	2955761	2955761	+	Silent	SNP	G	G	C			TCGA-P4-A5ED-01A-11D-A28G-10	TCGA-P4-A5ED-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	79d11c73-74ff-468d-b0e9-b8ddc72de15a	1bc9f60c-2dc6-4bfe-9965-6014f49dc9ac	g.chr6:2955761G>C	ENST00000380520.1	-	2	2303	c.309C>G	c.(307-309)ctC>ctG	p.L103L	SERPINB6_ENST00000335686.5_Silent_p.L103L|SERPINB6_ENST00000380539.1_Silent_p.L103L|SERPINB6_ENST00000380524.1_Silent_p.L103L|SERPINB6_ENST00000380529.1_Silent_p.L103L|SERPINB6_ENST00000380546.3_Silent_p.L103L			P35237	SPB6_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 6	103					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)|protein complex (GO:0043234)	protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2)	17	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Drotrecogin alfa(DB00055)	GACTTACTGAGAGGAAATCAC	0.493																																																0													78	78	78					6																	2955761		2203	4300	6503	SO:0001819	synonymous_variant	5269			Z22658	CCDS4479.1, CCDS75386.1, CCDS75387.1	6p25.2	2014-02-18	2005-08-18		ENSG00000124570	ENSG00000124570		"Serine (or cysteine) peptidase inhibitors"	8950	protein-coding gene	gene with protein product	"cytoplasmic antiproteinase"	173321	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 6", "deafness, autosomal recessive 91"	PI6, DFNB91		8415716, 9858835, 20451170, 24172014	Standard	NM_004568		Approved	PTI, CAP	uc031smo.1	P35237	OTTHUMG00000016170	ENST00000380520.1:c.309C>G	chr6.hg19:g.2955761G>C			B2RBA8|Q59F97|Q5TD06|Q7Z2Y7|Q96J44|Q9UDI7	Silent	SNP	ENST00000380520.1	hg19	CCDS4479.1																																																																																				0.493	SERPINB6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043422.1			C	2955761	G	C	2955761	2	2	776	1	0	0	0	0	0	0	0	1	14111	929	33	4		4	SERPINB6	6	2955761	Silent	SNP	G	TCGA-P4-A5ED-01A-11D-A28G-10		2955761	168159306	6	45879											
NBN	4683	hgsc.bcm.edu	37	8	90967743	90967743	+	Missense_Mutation	SNP	T	T	C			TCGA-P4-A5ED-01A-11D-A28G-10	TCGA-P4-A5ED-11A-11D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	79d11c73-74ff-468d-b0e9-b8ddc72de15a	1bc9f60c-2dc6-4bfe-9965-6014f49dc9ac	g.chr8:90967743T>C	ENST00000265433.3	-	10	1319	c.1165A>G	c.(1165-1167)Atg>Gtg	p.M389V	NBN_ENST00000409330.1_Missense_Mutation_p.M307V	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	389	Interaction with MTOR, MAPKAP1 and RICTOR.				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)			TTTTGTTCCATTTTGGAGACT	0.338								Homologous recombination																																								0													104	98	100					8																	90967743		2203	4300	6503	SO:0001583	missense	4683			AF058696	CCDS6249.1	8q21-q24	2014-09-17	2005-06-02	2005-06-02	ENSG00000104320	ENSG00000104320			7652	protein-coding gene	gene with protein product		602667	"Nijmegen breakage syndrome 1 (nibrin)"	NBS, NBS1		9590181, 9590180	Standard	XM_005250923		Approved	ATV, AT-V2, AT-V1	uc003yej.1	O60934	OTTHUMG00000153546	ENST00000265433.3:c.1165A>G	chr8.hg19:g.90967743T>C	ENSP00000265433:p.Met389Val		B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2	Missense_Mutation	SNP	ENST00000265433.3	hg19	CCDS6249.1	.	.	.	.	.	.	.	.	.	.	T	0.019	-1.453422	0.01071	.	.	ENSG00000104320	ENST00000265433;ENST00000409330;ENST00000452387	T;T	0.56941	2.1;0.43	5.45	-1.76	0.08006	.	0.952676	0.09006	N	0.862316	T	0.20659	0.0497	N	0.05383	-0.06	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.24119	-1.0169	10	0.02654	T	1	3.3137	1.3277	0.02128	0.1323:0.1639:0.2892:0.4145	.	389;389	A6H8Y5;O60934	.;NBN_HUMAN	V	389;307;389	ENSP00000265433:M389V;ENSP00000386924:M307V	ENSP00000265433:M389V	M	-	1	0	NBN	91036919	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.078000	0.14761	-0.233000	0.09797	-0.321000	0.08615	ATG		0.338	NBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331583.3	NM_001024688		C	90967743	T	C	90967743	3	2	776	1	0	0	0	0	1	0	0	0	10193	1493	52	3	1127	3	NBN	8	90967743	Missense_Mutation	SNP	T	TCGA-P4-A5ED-01A-11D-A28G-10		90967743	55396279	7	45880											
TAF1L	138474	hgsc.bcm.edu	37	9	32633310	32633310	+	Silent	SNP	G	G	A			TCGA-P4-A5ED-01A-11D-A28G-10	TCGA-P4-A5ED-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	79d11c73-74ff-468d-b0e9-b8ddc72de15a	1bc9f60c-2dc6-4bfe-9965-6014f49dc9ac	g.chr9:32633310G>A	ENST00000242310.4	-	1	2357	c.2268C>T	c.(2266-2268)ggC>ggT	p.G756G	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	756					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GCAGTAATTGGCCAGGATGGA	0.443																																																0													184	180	182					9																	32633310		2203	4300	6503	SO:0001819	synonymous_variant	138474			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.2268C>T	chr9.hg19:g.32633310G>A			Q0VG57	Silent	SNP	ENST00000242310.4	hg19	CCDS35003.1																																																																																				0.443	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			A	32633310	G	A	32633310	2	1	776	1	0	0	0	0	0	0	0	1	15528	1190	42	2		2	TAF1L	9	32633310	Silent	SNP	G	TCGA-P4-A5ED-01A-11D-A28G-10		32633310	108580121	8	45881											
DCAF10	79269	hgsc.bcm.edu	37	9	37800965	37800965	+	Silent	SNP	G	G	T	rs373032176		TCGA-P4-A5ED-01A-11D-A28G-10	TCGA-P4-A5ED-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	79d11c73-74ff-468d-b0e9-b8ddc72de15a	1bc9f60c-2dc6-4bfe-9965-6014f49dc9ac	g.chr9:37800965G>T	ENST00000377724.3	+	1	467	c.102G>T	c.(100-102)ccG>ccT	p.P34P	DCAF10_ENST00000242323.7_Silent_p.P34P|RP11-613M10.9_ENST00000540557.1_Intron	NM_024345.3	NP_077321.3	Q5QP82	DCA10_HUMAN	DDB1 and CUL4 associated factor 10	34	Pro-rich.				protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	12						CCACCGGGCCGCCCTCGCCAC	0.761													G|||	1	0.000199681	0.0	0.0	5008	,	,		10350	0.0		0.001	False		,,,				2504	0.0															0								G		2,2882		0,2,1440	3	4	3		102	-2.9	0.1	9		3	5,6809		0,5,3402	no	coding-synonymous	DCAF10	NM_024345.3		0,7,4842	TT,TG,GG		0.0734,0.0693,0.0722		34/560	37800965	7,9691	1442	3407	4849	SO:0001819	synonymous_variant	79269			BC003520	CCDS6613.2, CCDS75835.1	9p13.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000122741	ENSG00000122741		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	23686	protein-coding gene	gene with protein product			"WD repeat domain 32"	WDR32			Standard	NM_001286810		Approved	MGC10765, FLJ23201	uc004aao.3	Q5QP82	OTTHUMG00000019934	ENST00000377724.3:c.102G>T	chr9.hg19:g.37800965G>T			A4VCJ5|Q32NE2|Q8N2Q5|Q96ET5|Q9BTQ5|Q9H5P6	Silent	SNP	ENST00000377724.3	hg19	CCDS6613.2																																																																																				0.761	DCAF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052485.2	NM_024345		T	37800965	G	T	37800965	2	4	776	1	0	0	0	0	0	0	0	1	4263	1074	38	4		4	DCAF10	9	37800965	Silent	SNP	G	TCGA-P4-A5ED-01A-11D-A28G-10	5167655	37800965	103412466	9	45882											
B3GNT6	192134	hgsc.bcm.edu	37	11	76751497	76751497	+	Missense_Mutation	SNP	A	A	G	rs559157215	byFrequency	TCGA-P4-A5ED-01A-11D-A28G-10	TCGA-P4-A5ED-11A-11D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	79d11c73-74ff-468d-b0e9-b8ddc72de15a	1bc9f60c-2dc6-4bfe-9965-6014f49dc9ac	g.chr11:76751497A>G	ENST00000533140.1	+	2	1040	c.902A>G	c.(901-903)cAc>cGc	p.H301R	B3GNT6_ENST00000421061.1_Intron|B3GNT6_ENST00000354301.5_Missense_Mutation_p.H301R			O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase)	0					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|poly-N-acetyllactosamine biosynthetic process (GO:0030311)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity (GO:0008532)			central_nervous_system(1)|kidney(2)|lung(4)|prostate(1)	8						gccgcccgccACACCCCGCTC	0.756													A|||	21	0.00419329	0.0008	0.0288	5008	,	,		10513	0.0		0.0	False		,,,				2504	0.0															0																																										SO:0001583	missense	192134			AB073740	CCDS53681.1	11q13.4	2013-02-19			ENSG00000198488	ENSG00000198488		"Beta 3-glycosyltransferases"	24141	protein-coding gene	gene with protein product		615315				11821425	Standard	NM_138706		Approved	B3Gn-T6	uc021qnp.1	Q6ZMB0		ENST00000533140.1:c.902A>G	chr11.hg19:g.76751497A>G	ENSP00000435352:p.His301Arg		Q4TTN0	Missense_Mutation	SNP	ENST00000533140.1	hg19	CCDS53681.1	.	.	.	.	.	.	.	.	.	.	A	1.535	-0.543236	0.04053	.	.	ENSG00000198488	ENST00000533140;ENST00000354301	T;T	0.44083	0.93;0.93	2.89	0.53	0.17102	.	0.656353	0.15442	N	0.262162	T	0.21921	0.0528	N	0.21097	0.63	0.09310	N	0.999997	B	0.02656	0.0	B	0.09377	0.004	T	0.24368	-1.0162	10	0.11794	T	0.64	.	6.0489	0.19775	0.753:0.0:0.247:0.0	.	301	Q6ZMB0	B3GN6_HUMAN	R	301	ENSP00000435352:H301R;ENSP00000346256:H301R	ENSP00000346256:H301R	H	+	2	0	B3GNT6	76429145	0.000000	0.05858	0.007000	0.13788	0.109000	0.19521	-0.871000	0.04223	0.080000	0.16959	0.374000	0.22700	CAC		0.756	B3GNT6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000382740.2	NM_138706		G	76751497	A	G	76751497	3	3	776	1	0	0	0	0	1	0	0	0	1261	159	6	3	904	3	B3GNT6	11	76751497	Missense_Mutation	SNP	A	TCGA-P4-A5ED-01A-11D-A28G-10		76751497	58255019	10	45883											
GRAMD1B	57476	hgsc.bcm.edu	37	11	123476178	123476178	+	Missense_Mutation	SNP	C	C	T			TCGA-P4-A5ED-01A-11D-A28G-10	TCGA-P4-A5ED-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	79d11c73-74ff-468d-b0e9-b8ddc72de15a	1bc9f60c-2dc6-4bfe-9965-6014f49dc9ac	g.chr11:123476178C>T	ENST00000529750.1	+	9	1213	c.886C>T	c.(886-888)Ccc>Tcc	p.P296S	GRAMD1B_ENST00000450171.2_5'Flank|GRAMD1B_ENST00000456860.2_Missense_Mutation_p.P303S|GRAMD1B_ENST00000322282.7_Missense_Mutation_p.P296S	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	296						integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		CAGTGAGGCCCCCGTCTCGGT	0.557																																																0													142	149	147					11																	123476178		2083	4200	6283	SO:0001583	missense	57476			AB033027	CCDS53720.1, CCDS66253.1, CCDS66254.1	11q24.1	2005-11-02				ENSG00000023171			29214	protein-coding gene	gene with protein product						10574462	Standard	NM_001286564		Approved	KIAA1201	uc001pyx.2	Q3KR37		ENST00000529750.1:c.886C>T	chr11.hg19:g.123476178C>T	ENSP00000436500:p.Pro296Ser		Q6UW85|Q9ULL9	Missense_Mutation	SNP	ENST00000529750.1	hg19	CCDS53720.1	.	.	.	.	.	.	.	.	.	.	C	19.90	3.911935	0.72983	.	.	ENSG00000023171	ENST00000539133;ENST00000456860;ENST00000322282;ENST00000529750;ENST00000529432;ENST00000534764	T;T;T;T;T	0.30714	1.92;1.93;1.93;1.92;1.52	5.03	4.11	0.48088	.	0.000000	0.85682	D	0.000000	T	0.31009	0.0783	L	0.34521	1.04	0.58432	D	0.999998	P;P;D;B	0.57899	0.913;0.734;0.981;0.027	B;B;P;B	0.52109	0.424;0.356;0.69;0.065	T	0.02431	-1.1160	10	0.13470	T	0.59	.	13.3208	0.60432	0.0:0.9228:0.0:0.0772	.	256;303;296;303	B7Z4N9;F5H572;Q3KR37;E7EPH8	.;.;GRM1B_HUMAN;.	S	303;303;296;296;256;292	ENSP00000402457:P303S;ENSP00000325628:P296S;ENSP00000436500:P296S;ENSP00000432987:P256S;ENSP00000434214:P292S	ENSP00000325628:P296S	P	+	1	0	GRAMD1B	122981388	0.994000	0.37717	0.842000	0.33263	0.898000	0.52572	3.919000	0.56439	1.112000	0.41740	0.305000	0.20034	CCC		0.557	GRAMD1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387404.2	XM_370660		T	123476178	C	T	123476178	3	4	776	1	0	0	0	0	1	0	0	0	6750	623	22	2	920	2	GRAMD1B	11	123476178	Missense_Mutation	SNP	C	TCGA-P4-A5ED-01A-11D-A28G-10	46724681	123476178	11530338	11	45884											
BRAP	8315	hgsc.bcm.edu	37	12	112096635	112096635	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P4-A5ED-01A-11D-A28G-10	TCGA-P4-A5ED-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	79d11c73-74ff-468d-b0e9-b8ddc72de15a	1bc9f60c-2dc6-4bfe-9965-6014f49dc9ac	g.chr12:112096635G>A	ENST00000327551.6	-	9	1176	c.1036C>T	c.(1036-1038)Cga>Tga	p.R346*	BRAP_ENST00000419234.4_Nonsense_Mutation_p.R376*|BRAP_ENST00000539060.1_Nonsense_Mutation_p.R197*			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						GCAACCAGTCGATGAACATAG	0.353																																					Pancreas(146;846 1904 7830 25130 26065)											0													129	119	122					12																	112096635		2203	4300	6503	SO:0001587	stop_gained	8315			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.1036C>T	chr12.hg19:g.112096635G>A	ENSP00000330813:p.Arg346*		B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Nonsense_Mutation	SNP	ENST00000327551.6	hg19		.	.	.	.	.	.	.	.	.	.	G	36	5.951877	0.97139	.	.	ENSG00000089234	ENST00000419234;ENST00000539060;ENST00000327551;ENST00000547043	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.1227	19.4174	0.94706	0.0:0.0:1.0:0.0	.	.	.	.	X	376;197;346;158	.	ENSP00000330813:R346X	R	-	1	2	BRAP	110581018	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.147000	0.94646	2.606000	0.88127	0.650000	0.86243	CGA		0.353	BRAP-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404994.2			A	112096635	G	A	112096635	4	1	776	1	0	0	0	0	0	1	0	0	1499	1066	37	1	668	1	BRAP	12	112096635	Nonsense_Mutation	SNP	G	TCGA-P4-A5ED-01A-11D-A28G-10		112096635	21755260	12	45885											
SEL1L	6400	hgsc.bcm.edu	37	14	81969202	81969202	+	Missense_Mutation	SNP	C	C	T			TCGA-P4-A5ED-01A-11D-A28G-10	TCGA-P4-A5ED-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	79d11c73-74ff-468d-b0e9-b8ddc72de15a	1bc9f60c-2dc6-4bfe-9965-6014f49dc9ac	g.chr14:81969202C>T	ENST00000336735.4	-	6	756	c.640G>A	c.(640-642)Gca>Aca	p.A214T	SEL1L_ENST00000555824.1_Missense_Mutation_p.A214T	NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	214	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)		TTCATGCTTGCTGCCTTTTGG	0.363																																																0													146	139	142					14																	81969202		2203	4300	6503	SO:0001583	missense	6400				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.640G>A	chr14.hg19:g.81969202C>T	ENSP00000337053:p.Ala214Thr		Q6UWT6|Q9P1T9|Q9UHK7	Missense_Mutation	SNP	ENST00000336735.4	hg19	CCDS9876.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.191863	0.78902	.	.	ENSG00000071537	ENST00000336735;ENST00000555824	T;T	0.58940	0.35;0.3	5.45	5.45	0.79879	Tetratricopeptide-like helical (1);	0.104952	0.64402	D	0.000004	T	0.71937	0.3399	M	0.66939	2.045	0.80722	D	1	D;D	0.67145	0.985;0.996	D;D	0.64042	0.92;0.921	T	0.74450	-0.3661	10	0.87932	D	0	.	14.4932	0.67665	0.1468:0.8532:0.0:0.0	.	214;214	Q9UBV2;Q9UBV2-2	SE1L1_HUMAN;.	T	214	ENSP00000337053:A214T;ENSP00000450709:A214T	ENSP00000337053:A214T	A	-	1	0	SEL1L	81038955	1.000000	0.71417	0.999000	0.59377	0.746000	0.42486	4.282000	0.58971	2.719000	0.93026	0.655000	0.94253	GCA		0.363	SEL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413325.1	NM_005065		T	81969202	C	T	81969202	3	4	776	1	0	0	0	0	1	0	0	0	14016	797	28	2	1808	2	SEL1L	14	81969202	Missense_Mutation	SNP	C	TCGA-P4-A5ED-01A-11D-A28G-10		81969202	25380338	13	45886											
HS3ST4	9951	hgsc.bcm.edu	37	16	26147018	26147018	+	Frame_Shift_Del	DEL	A	A	-			TCGA-P4-A5ED-01A-11D-A28G-10	TCGA-P4-A5ED-11A-11D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	79d11c73-74ff-468d-b0e9-b8ddc72de15a	1bc9f60c-2dc6-4bfe-9965-6014f49dc9ac	g.chr16:26147018delA	ENST00000331351.5	+	2	1212	c.820delA	c.(820-822)attfs	p.I274fs	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	274					heparan sulfate proteoglycan metabolic process (GO:0030201)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		TCCCAAGCGCATTCACTCCAT	0.498																																																0													122	111	115					16																	26147018		1568	3582	5150	SO:0001589	frameshift_variant	9951			AF105378	CCDS53995.1	16p11.2	2008-03-12			ENSG00000182601	ENSG00000182601	2.8.2.23	"Sulfotransferases, membrane-bound"	5200	protein-coding gene	gene with protein product		604059				9988767	Standard	NM_006040		Approved	3OST4	uc002dof.3	Q9Y661	OTTHUMG00000059978	ENST00000331351.5:c.820delA	chr16.hg19:g.26147018delA	ENSP00000330606:p.Ile274fs		Q5QI42|Q8NDC2	Frame_Shift_Del	DEL	ENST00000331351.5	hg19	CCDS53995.1																																																																																				0.498	HS3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133286.2	NM_006040		-	26147018	A	-	26147018	7	5	776	1	0	1	0	1	0	0	0	0	7369	217	8	0	826	0	HS3ST4	16	26147018	Frame_Shift_Del	DEL	A	TCGA-P4-A5ED-01A-11D-A28G-10		26147018	64207735	14	45887	490	3									
HS3ST4	9951	hgsc.bcm.edu	37	16	26147021	26147023	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-P4-A5ED-01A-11D-A28G-10	TCGA-P4-A5ED-11A-11D-A28G-10	CAC	CAC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	79d11c73-74ff-468d-b0e9-b8ddc72de15a	1bc9f60c-2dc6-4bfe-9965-6014f49dc9ac	g.chr16:26147021_26147023delCAC	ENST00000331351.5	+	2	1215_1217	c.823_825delCAC	c.(823-825)cacdel	p.H275del	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	275					heparan sulfate proteoglycan metabolic process (GO:0030201)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		CAAGCGCATTCACTCCATGGCCA	0.498																																																0																																										SO:0001651	inframe_deletion	9951			AF105378	CCDS53995.1	16p11.2	2008-03-12			ENSG00000182601	ENSG00000182601	2.8.2.23	"Sulfotransferases, membrane-bound"	5200	protein-coding gene	gene with protein product		604059				9988767	Standard	NM_006040		Approved	3OST4	uc002dof.3	Q9Y661	OTTHUMG00000059978	ENST00000331351.5:c.823_825delCAC	chr16.hg19:g.26147021_26147023delCAC	ENSP00000330606:p.His275del		Q5QI42|Q8NDC2	In_Frame_Del	DEL	ENST00000331351.5	hg19	CCDS53995.1																																																																																				0.498	HS3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133286.2	NM_006040		-	26147023	CAC	-	26147021	7	5	776	1	0	1	0	1	0	0	0	0	7369	826	29	0	829	0	HS3ST4	16	26147021	In_Frame_Del	DEL	CAC	TCGA-P4-A5ED-01A-11D-A28G-10	3	26147021	64207732	15	45888	490	3									
HS3ST4	9951	hgsc.bcm.edu	37	16	26147022	26147025	+	Frame_Shift_Del	DEL	ACTC	ACTC	-			TCGA-P4-A5ED-01A-11D-A28G-10	TCGA-P4-A5ED-11A-11D-A28G-10	ACTC	ACTC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	79d11c73-74ff-468d-b0e9-b8ddc72de15a	1bc9f60c-2dc6-4bfe-9965-6014f49dc9ac	g.chr16:26147022_26147025delACTC	ENST00000331351.5	+	2	1216_1219	c.824_827delACTC	c.(823-828)cactccfs	p.HS275fs	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	275					heparan sulfate proteoglycan metabolic process (GO:0030201)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		AAGCGCATTCACTCCATGGCCAAG	0.505																																																0																																										SO:0001589	frameshift_variant	9951			AF105378	CCDS53995.1	16p11.2	2008-03-12			ENSG00000182601	ENSG00000182601	2.8.2.23	"Sulfotransferases, membrane-bound"	5200	protein-coding gene	gene with protein product		604059				9988767	Standard	NM_006040		Approved	3OST4	uc002dof.3	Q9Y661	OTTHUMG00000059978	ENST00000331351.5:c.824_827delACTC	chr16.hg19:g.26147022_26147025delACTC	ENSP00000330606:p.His275fs		Q5QI42|Q8NDC2	Frame_Shift_Del	DEL	ENST00000331351.5	hg19	CCDS53995.1																																																																																				0.505	HS3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133286.2	NM_006040		-	26147025	ACTC	-	26147022	7	5	776	1	0	1	0	1	0	0	0	0	7369	159	6	0	830	0	HS3ST4	16	26147022	Frame_Shift_Del	DEL	ACTC	TCGA-P4-A5ED-01A-11D-A28G-10	1	26147022	64207731	16	45889	490	3									
NLRP12	91662	hgsc.bcm.edu	37	19	54313633	54313633	+	Missense_Mutation	SNP	G	G	T			TCGA-P4-A5ED-01A-11D-A28G-10	TCGA-P4-A5ED-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	79d11c73-74ff-468d-b0e9-b8ddc72de15a	1bc9f60c-2dc6-4bfe-9965-6014f49dc9ac	g.chr19:54313633G>T	ENST00000324134.6	-	3	1448	c.1280C>A	c.(1279-1281)aCg>aAg	p.T427K	NLRP12_ENST00000535162.1_Missense_Mutation_p.T427K|NLRP12_ENST00000345770.5_Missense_Mutation_p.T427K|NLRP12_ENST00000391772.1_Missense_Mutation_p.T427K|NLRP12_ENST00000354278.3_Missense_Mutation_p.T427K|NLRP12_ENST00000351894.4_Missense_Mutation_p.T427K|NLRP12_ENST00000391773.1_Missense_Mutation_p.T427K|NLRP12_ENST00000391775.3_Missense_Mutation_p.T427K	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	427	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)		GGTCCTGGACGTCTGTCTCAA	0.642																																																0													92	91	92					19																	54313633		2203	4300	6503	SO:0001583	missense	91662			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.1280C>A	chr19.hg19:g.54313633G>T	ENSP00000319377:p.Thr427Lys		A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	hg19	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.253579	0.39797	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	D;D;D;D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78	4.77	1.33	0.21861	NACHT nucleoside triphosphatase (1);	0.322809	0.22246	N	0.062616	T	0.77691	0.4168	M	0.77616	2.38	0.09310	N	1	P;P;P;P	0.50443	0.935;0.835;0.835;0.752	B;B;B;B	0.38842	0.264;0.264;0.264;0.283	T	0.70831	-0.4765	10	0.66056	D	0.02	.	5.5314	0.16987	0.1844:0.1613:0.6542:0.0	.	427;427;427;427	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	K	427	ENSP00000319377:T427K;ENSP00000438030:T427K;ENSP00000340473:T427K;ENSP00000346231:T427K;ENSP00000375655:T427K;ENSP00000375653:T427K;ENSP00000375652:T427K	ENSP00000319377:T427K	T	-	2	0	NLRP12	59005445	0.000000	0.05858	0.002000	0.10522	0.515000	0.34225	0.072000	0.14617	0.174000	0.19809	-0.344000	0.07964	ACG		0.642	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		T	54313633	G	T	54313633	3	4	776	1	0	0	0	0	1	0	0	0	10476	1145	40	4	2033	4	NLRP12	19	54313633	Missense_Mutation	SNP	G	TCGA-P4-A5ED-01A-11D-A28G-10		54313633	4815350	17	45890											
ZNF628	89887	hgsc.bcm.edu	37	19	55993264	55993264	+	Missense_Mutation	SNP	C	C	T			TCGA-P4-A5ED-01A-11D-A28G-10	TCGA-P4-A5ED-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	79d11c73-74ff-468d-b0e9-b8ddc72de15a	1bc9f60c-2dc6-4bfe-9965-6014f49dc9ac	g.chr19:55993264C>T	ENST00000598519.1	+	3	1257	c.704C>T	c.(703-705)gCc>gTc	p.A235V	ZNF628_ENST00000391718.2_Missense_Mutation_p.A231V			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	235	Pro-rich.				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(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		ccgggtaccgcctccgcggcc	0.766																																																0													3	4	3					19																	55993264		1658	3351	5009	SO:0001583	missense	89887			AF367249	CCDS33116.3	19q13.43	2013-01-08			ENSG00000197483	ENSG00000197483		"Zinc fingers, C2H2-type"	28054	protein-coding gene	gene with protein product	"Zinc finger expressed in Embryonal cells and Certain adult organs"	610671					Standard	NM_033113		Approved	ZEC, Zfp628	uc002qld.3	Q5EBL2	OTTHUMG00000150396	ENST00000598519.1:c.704C>T	chr19.hg19:g.55993264C>T	ENSP00000469591:p.Ala235Val		Q86X34	Missense_Mutation	SNP	ENST00000598519.1	hg19	CCDS33116.3	.	.	.	.	.	.	.	.	.	.	.	7.048	0.563911	0.13498	.	.	ENSG00000197483	ENST00000391718	T	0.08807	3.05	3.0	1.93	0.25924	.	.	.	.	.	T	0.06325	0.0163	N	0.19112	0.55	0.09310	N	1	B	0.19445	0.036	B	0.24701	0.055	T	0.35919	-0.9769	9	0.54805	T	0.06	-3.6893	8.11	0.30909	0.0:0.7504:0.2496:0.0	.	231	Q5EBL2	ZN628_HUMAN	V	231	ENSP00000375598:A231V	ENSP00000375598:A231V	A	+	2	0	ZNF628	60685076	0.734000	0.28142	0.009000	0.14445	0.152000	0.21847	0.878000	0.28126	0.836000	0.34901	0.459000	0.35465	GCC		0.766	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2	XM_058964		T	55993264	C	T	55993264	3	4	776	1	0	0	0	0	1	0	0	0	18057	739	26	2	694	2	ZNF628	19	55993264	Missense_Mutation	SNP	C	TCGA-P4-A5ED-01A-11D-A28G-10	1679631	55993264	3135719	18	45891											
KIF4A	24137	hgsc.bcm.edu	37	X	69595071	69595071	+	Missense_Mutation	SNP	G	G	A			TCGA-P4-A5ED-01A-11D-A28G-10	TCGA-P4-A5ED-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	79d11c73-74ff-468d-b0e9-b8ddc72de15a	1bc9f60c-2dc6-4bfe-9965-6014f49dc9ac	g.chrX:69595071G>A	ENST00000374403.3	+	17	1878	c.1796G>A	c.(1795-1797)cGc>cAc	p.R599H	KIF4A_ENST00000374388.3_Missense_Mutation_p.R599H	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	599					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						GAGCGCCGCCGCAAACGTCTC	0.468																																																0													67	58	61					X																	69595071		2203	4300	6503	SO:0001583	missense	24137			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.1796G>A	chrX.hg19:g.69595071G>A	ENSP00000363524:p.Arg599His		B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Missense_Mutation	SNP	ENST00000374403.3	hg19	CCDS14401.1	.	.	.	.	.	.	.	.	.	.	G	18.87	3.716466	0.68844	.	.	ENSG00000090889	ENST00000374388;ENST00000374403	T;T	0.70869	2.3;-0.52	5.53	5.53	0.82687	.	0.000000	0.56097	D	0.000035	T	0.76292	0.3967	M	0.83483	2.645	0.80722	D	1	B;B	0.28713	0.143;0.22	B;B	0.33254	0.038;0.16	T	0.76394	-0.2975	10	0.52906	T	0.07	.	17.3242	0.87243	0.0:0.0:1.0:0.0	.	599;599	O95239;O95239-2	KIF4A_HUMAN;.	H	599	ENSP00000363509:R599H;ENSP00000363524:R599H	ENSP00000363509:R599H	R	+	2	0	KIF4A	69511796	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.912000	0.92726	2.562000	0.86427	0.600000	0.82982	CGC		0.468	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057068.1	NM_012310		A	69595071	G	A	69595071	3	1	776	1	0	0	0	0	1	0	0	0	8305	1087	38	1	1858	1	KIF4A	23	69595071	Missense_Mutation	SNP	G	TCGA-P4-A5ED-01A-11D-A28G-10		69595071	85675489	19	45892											
RNF128	79589	hgsc.bcm.edu	37	X	106034465	106034465	+	Splice_Site	SNP	G	G	A			TCGA-P4-A5ED-01A-11D-A28G-10	TCGA-P4-A5ED-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	79d11c73-74ff-468d-b0e9-b8ddc72de15a	1bc9f60c-2dc6-4bfe-9965-6014f49dc9ac	g.chrX:106034465G>A	ENST00000255499.2	+	6	1403		c.e6+1		RNF128_ENST00000324342.3_Splice_Site	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase						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						CAGTCAACAAGTAAGCATCAT	0.453																																																0													172	148	156					X																	106034465		2203	4300	6503	SO:0001630	splice_region_variant	79589			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	ENST00000255499.2:c.1153+1G>A	chrX.hg19:g.106034465G>A			A0PJI4|Q6PH80|Q6ZTJ8|Q96RF3|Q9H5E4	Splice_Site	SNP	ENST00000255499.2	hg19	CCDS14521.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.781964	0.70222	.	.	ENSG00000133135	ENST00000324342;ENST00000255499	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.497	0.67694	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RNF128	105921121	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	6.181000	0.71988	2.165000	0.68154	0.506000	0.49869	.		0.453	RNF128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057804.1	NM_024539	Intron	A	106034465	G	A	106034465	5	1	776	1	0	0	0	0	0	0	1	0	13442	1043	36	2	1586	2	RNF128	23	106034465	Splice_Site	SNP	G	TCGA-P4-A5ED-01A-11D-A28G-10	36439394	106034465	49236095	20	45893											
ZIC3	7547	hgsc.bcm.edu	37	X	136648984	136648985	+	In_Frame_Ins	INS	-	-	CGC			TCGA-P4-A5ED-01A-11D-A28G-10	TCGA-P4-A5ED-11A-11D-A28G-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	79d11c73-74ff-468d-b0e9-b8ddc72de15a	1bc9f60c-2dc6-4bfe-9965-6014f49dc9ac	g.chrX:136648984_136648985insCGC	ENST00000287538.5	+	1	684_685	c.134_135insCGC	c.(133-138)cacgcc>caCGCcgcc	p.55_56insA	RP1-137H15.2_ENST00000456631.1_RNA|RP1-137H15.2_ENST00000442841.1_RNA|ZIC3_ENST00000370606.3_In_Frame_Ins_p.55_56insA	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	55	Poly-Ala.				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)					GACTCAACCCAcgccgccgccg	0.718																																																0																																										SO:0001652	inframe_insertion	7547			AF028706	CCDS14663.1	Xq24-q27.1	2013-01-08	2011-05-19		ENSG00000156925	ENSG00000156925		"Zinc fingers, C2H2-type"	12874	protein-coding gene	gene with protein product		300265	"heterotaxy 1", "Zic family member 3 (odd-paired homolog, Drosophila)"	HTX1		8298651, 7747776	Standard	NM_003413		Approved	HTX, ZNF203	uc004fak.3	O60481	OTTHUMG00000022525	ENST00000287538.5:c.159_161dupCGC	chrX.hg19:g.136648991_136648993dupCGC	ENSP00000287538:p.Ala55_Ala55dup		B2CNW4|Q14DE5|Q5JY75	In_Frame_Ins	INS	ENST00000287538.5	hg19	CCDS14663.1																																																																																				0.718	ZIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058526.1			CGC	136648985	-	CGC	136648984	7	5	776	1	0	1	1	0	0	0	0	0	17685	159	6	0	136	0	ZIC3	23	136648984	In_Frame_Ins	INS	-	TCGA-P4-A5ED-01A-11D-A28G-10	30614519	136648984	18621576	21	45894											
ACAP3	116983	hgsc.bcm.edu	37	1	1235981	1235981	+	Missense_Mutation	SNP	T	T	C			TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chr1:1235981T>C	ENST00000354700.5	-	6	632	c.430A>G	c.(430-432)Agg>Ggg	p.R144G	ACAP3_ENST00000379037.2_5'Flank|ACAP3_ENST00000353662.3_Missense_Mutation_p.R102G	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	144					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						GGCCGGTGCCTCGGGGCCTGG	0.652																																																0													42	45	44					1																	1235981		2198	4296	6494	SO:0001583	missense	116983			AF411981	CCDS19.2	1p36	2013-01-10	2008-09-22	2008-09-22	ENSG00000131584	ENSG00000131584		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16754	protein-coding gene	gene with protein product			"centaurin, beta 5"	CENTB5			Standard	NM_030649		Approved	KIAA1716	uc001aeb.2	Q96P50	OTTHUMG00000002235	ENST00000354700.5:c.430A>G	chr1.hg19:g.1235981T>C	ENSP00000346733:p.Arg144Gly		B1AMF5|Q5TA42|Q5TA43|Q86UT3|Q9BSR9|Q9C0E7	Missense_Mutation	SNP	ENST00000354700.5	hg19	CCDS19.2	.	.	.	.	.	.	.	.	.	.	T	13.86	2.362995	0.41902	.	.	ENSG00000131584	ENST00000354700;ENST00000353662	T;T	0.04119	3.7;3.7	4.05	-0.178	0.13303	.	0.063063	0.64402	D	0.000010	T	0.21631	0.0521	M	0.87180	2.865	0.21355	N	0.999713	D;D;D	0.76494	0.999;0.997;0.996	D;P;D	0.77557	0.988;0.889;0.99	T	0.04373	-1.0956	10	0.87932	D	0	.	13.3526	0.60611	0.0:0.0:0.4193:0.5807	.	184;144;102	Q5TA40;Q96P50;Q96P50-1	.;ACAP3_HUMAN;.	G	144;102	ENSP00000346733:R144G;ENSP00000321139:R102G	ENSP00000321139:R102G	R	-	1	2	ACAP3	1225844	0.971000	0.33674	0.507000	0.27676	0.763000	0.43281	1.603000	0.36794	0.182000	0.20032	0.260000	0.18958	AGG		0.652	ACAP3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006366.2	NM_030649		C	1235981	T	C	1235981	3	2	777	1	0	0	0	0	1	0	0	0	120	1550	54	3	2150	3	ACAP3	1	1235981	Missense_Mutation	SNP	T	TCGA-P4-AAVL-01A-11D-A42J-10		1235981	248014640	1	45895											
GJB3	2707	hgsc.bcm.edu	37	1	35250656	35250656	+	Missense_Mutation	SNP	G	G	A	rs201314683		TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chr1:35250656G>A	ENST00000373366.2	+	2	908	c.293G>A	c.(292-294)cGt>cAt	p.R98H	GJB3_ENST00000373362.3_Missense_Mutation_p.R98H|RP1-34M23.5_ENST00000542839.1_RNA	NM_024009.2	NP_076872.1	O75712	CXB3_HUMAN	gap junction protein, beta 3, 31kDa	98					cell communication (GO:0007154)|in utero embryonic development (GO:0001701)|placenta development (GO:0001890)|sensory perception of sound (GO:0007605)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	connexon complex (GO:0005922)|cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)	gap junction channel activity (GO:0005243)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|prostate(3)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GTGGCCTACCGTGAGGAGCGG	0.632																																																0													133	127	129					1																	35250656		2203	4300	6503	SO:0001583	missense	2707			BC012918	CCDS384.1	1p34	2008-05-14	2007-01-16		ENSG00000188910	ENSG00000188910		"Ion channels / Gap junction proteins (connexins)"	4285	protein-coding gene	gene with protein product	"connexin 31"	603324	"gap junction protein, beta 3, 31kD (connexin 31)", "gap junction protein, beta 3, 31kDa (connexin 31)", "erythrokeratodermia variabilis"	DFNA2, EKV		9843210, 9704026	Standard	NM_024009		Approved	CX31	uc001bxy.3	O75712	OTTHUMG00000004051	ENST00000373366.2:c.293G>A	chr1.hg19:g.35250656G>A	ENSP00000362464:p.Arg98His		B2R790|Q2TAZ8	Missense_Mutation	SNP	ENST00000373366.2	hg19	CCDS384.1	.	.	.	.	.	.	.	.	.	.	g	23.2	4.390343	0.82902	.	.	ENSG00000188910	ENST00000373366;ENST00000373362;ENST00000543647	D;D	0.99129	-5.46;-5.46	5.85	5.85	0.93711	Connexin, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98782	0.9590	M	0.76328	2.33	0.58432	D	0.99999	D	0.63880	0.993	P	0.53185	0.72	D	0.98959	1.0797	10	0.56958	D	0.05	.	15.6548	0.77124	0.0:0.0:0.8623:0.1377	.	98	O75712	CXB3_HUMAN	H	98	ENSP00000362464:R98H;ENSP00000362460:R98H	ENSP00000362460:R98H	R	+	2	0	GJB3	35023243	1.000000	0.71417	0.966000	0.40874	0.668000	0.39293	7.966000	0.87956	2.771000	0.95319	0.561000	0.74099	CGT		0.632	GJB3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011559.1	NM_024009		A	35250656	G	A	35250656	3	1	777	1	0	0	0	0	1	0	0	0	6411	1145	40	1	295	1	GJB3	1	35250656	Missense_Mutation	SNP	G	TCGA-P4-AAVL-01A-11D-A42J-10	34014675	35250656	213999965	2	45896											
MUTYH	4595	hgsc.bcm.edu	37	1	45797447	45797447	+	Missense_Mutation	SNP	A	A	G	rs587781601		TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chr1:45797447A>G	ENST00000372098.3	-	12	1196	c.1063T>C	c.(1063-1065)Ttc>Ctc	p.F355L	MUTYH_ENST00000372100.5_Missense_Mutation_p.F341L|MUTYH_ENST00000456914.2_Missense_Mutation_p.F330L|MUTYH_ENST00000448481.1_Missense_Mutation_p.F341L|MUTYH_ENST00000372115.3_Missense_Mutation_p.F344L|MUTYH_ENST00000450313.1_Missense_Mutation_p.F358L|MUTYH_ENST00000488731.2_Intron|MUTYH_ENST00000355498.2_Missense_Mutation_p.F330L|MUTYH_ENST00000372110.3_Missense_Mutation_p.F345L|MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000529984.1_Intron|MUTYH_ENST00000528013.2_Missense_Mutation_p.F344L|MUTYH_ENST00000354383.6_Missense_Mutation_p.F331L|MUTYH_ENST00000372104.1_Missense_Mutation_p.F330L|MUTYH_ENST00000528332.2_Intron			Q9UIF7	MUTYH_HUMAN	mutY homolog	355					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)					TTTCTGGGGAAGTTGACCACT	0.647			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis																													yes	Rec		Adenomatous polyposis coli	1	1p34.3-1p32.1	4595	mutY homolog (E. coli)		E	0													20	24	23					1																	45797447		2202	4300	6502	SO:0001583	missense	4595	Familial Cancer Database	MAP, MYH-associated polyposis	U63329	CCDS520.1, CCDS41320.1, CCDS41321.1, CCDS41322.1, CCDS72776.1, CCDS72777.1	1p34.1	2014-09-17	2013-09-12		ENSG00000132781	ENSG00000132781			7527	protein-coding gene	gene with protein product		604933	"mutY (E. coli) homolog", "mutY homolog (E. coli)"			7823963, 10684930	Standard	NM_012222		Approved	MYH	uc009vxp.3	Q9UIF7	OTTHUMG00000007682	ENST00000372098.3:c.1063T>C	chr1.hg19:g.45797447A>G	ENSP00000361170:p.Phe355Leu		D3DPZ4|Q15830|Q9UBP2|Q9UBS7|Q9UIF4|Q9UIF5|Q9UIF6	Missense_Mutation	SNP	ENST00000372098.3	hg19	CCDS520.1	.	.	.	.	.	.	.	.	.	.	A	16.11	3.031555	0.54790	.	.	ENSG00000132781	ENST00000372104;ENST00000448481;ENST00000456914;ENST00000354383;ENST00000355498;ENST00000372098;ENST00000372110;ENST00000372115;ENST00000450313;ENST00000372100;ENST00000525481;ENST00000412971	T;T;T;T;T;T;T;T;T;T;T	0.26660	2.67;2.67;2.67;2.67;2.67;2.66;2.65;2.65;2.64;2.67;1.72	5.5	4.39	0.52855	.	0.047785	0.85682	D	0.000000	T	0.18299	0.0439	N	0.17312	0.475	0.46774	D	0.999199	B;B;B;B;B;B;B	0.27823	0.19;0.001;0.185;0.001;0.19;0.054;0.19	B;B;B;B;B;B;B	0.33799	0.118;0.02;0.17;0.02;0.118;0.046;0.082	T	0.07986	-1.0744	10	0.56958	D	0.05	-13.047	10.8161	0.46575	0.926:0.0:0.074:0.0	.	358;355;345;355;344;238;331	E5KP25;E5KP26;Q9UIF7-2;Q9UIF7;E5KP27;D3DPZ6;E5KP28	.;.;.;MUTYH_HUMAN;.;.;.	L	330;341;330;331;330;355;345;344;358;341;202;202	ENSP00000361176:F330L;ENSP00000409718:F341L;ENSP00000407590:F330L;ENSP00000346354:F331L;ENSP00000347685:F330L;ENSP00000361170:F355L;ENSP00000361182:F345L;ENSP00000361187:F344L;ENSP00000408176:F358L;ENSP00000361172:F341L;ENSP00000410263:F202L	ENSP00000346354:F331L	F	-	1	0	MUTYH	45570034	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	6.850000	0.75420	2.100000	0.63781	0.533000	0.62120	TTC		0.647	MUTYH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020529.1	NM_012222		G	45797447	A	G	45797447	3	3	777	1	0	0	0	0	1	0	0	0	9995	72	3	3	597	3	MUTYH	1	45797447	Missense_Mutation	SNP	A	TCGA-P4-AAVL-01A-11D-A42J-10	10546791	45797447	203453174	3	45897											
CCDC17	149483	hgsc.bcm.edu	37	1	46088725	46088725	+	Silent	SNP	C	C	A			TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chr1:46088725C>A	ENST00000528266.1	-	4	705	c.558G>T	c.(556-558)ctG>ctT	p.L186L	CCDC17_ENST00000343901.2_Silent_p.L154L|CCDC17_ENST00000464739.1_5'Flank|CCDC17_ENST00000421127.2_Silent_p.L177L|CCDC17_ENST00000445048.2_Intron			Q96LX7	CCD17_HUMAN	coiled-coil domain containing 17	186										kidney(1)|large_intestine(1)|lung(1)|ovary(2)	5	Acute lymphoblastic leukemia(166;0.155)					TCTCCTGCTCCAGGCCGAAGA	0.667																																																0													22	26	25					1																	46088725		2203	4300	6503	SO:0001819	synonymous_variant	149483				CCDS44131.1, CCDS44131.2, CCDS53314.1	1p34.1	2014-02-12			ENSG00000159588	ENSG00000159588			26574	protein-coding gene	gene with protein product							Standard	NM_001190182		Approved	FLJ33084	uc010olt.2	Q96LX7	OTTHUMG00000007822	ENST00000528266.1:c.558G>T	chr1.hg19:g.46088725C>A			A1A4Y7|B4DNX7|B4E1Q5|C9J8L2|Q0P683|Q5T629	Silent	SNP	ENST00000528266.1	hg19	CCDS44131.2																																																																																				0.667	CCDC17-008	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386833.1	NM_152500		A	46088725	C	A	46088725	2	1	777	1	0	0	0	0	0	0	0	1	2795	581	21	4		4	CCDC17	1	46088725	Silent	SNP	C	TCGA-P4-AAVL-01A-11D-A42J-10	291278	46088725	203161896	4	45898											
CYP2J2	1573	hgsc.bcm.edu	37	1	60370654	60370654	+	Frame_Shift_Del	DEL	G	G	-			TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chr1:60370654delG	ENST00000371204.3	-	7	1123	c.1080delC	c.(1078-1080)cccfs	p.P360fs	CYP2J2_ENST00000492633.1_5'UTR	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	360					arachidonic acid metabolic process (GO:0019369)|epoxygenase P450 pathway (GO:0019373)|icosanoid metabolic process (GO:0006690)|linoleic acid metabolic process (GO:0043651)|regulation of heart contraction (GO:0008016)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	arachidonic acid 11,12-epoxygenase activity (GO:0008405)|arachidonic acid 14,15-epoxygenase activity (GO:0008404)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|linoleic acid epoxygenase activity (GO:0071614)			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)				Apixaban(DB06605)|Astemizole(DB00637)|Cholecalciferol(DB00169)|Levomilnacipran(DB08918)|Masoprocol(DB00179)|Rivaroxaban(DB06228)	CATTGGTGTAGGGCATGGACT	0.542																																																0													157	129	139					1																	60370654		2203	4300	6503	SO:0001589	frameshift_variant	1573			BC032594	CCDS613.1	1p31.3-p31.2	2008-02-05	2003-01-14		ENSG00000134716	ENSG00000134716		"Cytochrome P450s"	2634	protein-coding gene	gene with protein product		601258	"cytochrome P450, subfamily IIJ (arachidonic acid epoxygenase) polypeptide 2"			9570962	Standard	NM_000775		Approved		uc001czq.3	P51589	OTTHUMG00000008991	ENST00000371204.3:c.1080delC	chr1.hg19:g.60370654delG	ENSP00000360247:p.Pro360fs		B2RD33|Q8TF13	Frame_Shift_Del	DEL	ENST00000371204.3	hg19	CCDS613.1																																																																																				0.542	CYP2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024940.1	NM_000775		-	60370654	G	-	60370654	7	5	777	1	0	1	0	1	0	0	0	0	4174	987	35	0	440	0	CYP2J2	1	60370654	Frame_Shift_Del	DEL	G	TCGA-P4-AAVL-01A-11D-A42J-10	14281929	60370654	188879967	5	45899											
IL12RB2	3595	hgsc.bcm.edu	37	1	67816591	67816592	+	Frame_Shift_Ins	INS	-	-	TA			TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chr1:67816591_67816592insTA	ENST00000262345.1	+	9	1717_1718	c.1077_1078insTA	c.(1078-1080)tatfs	p.Y360fs	IL12RB2_ENST00000541374.1_Frame_Shift_Ins_p.Y360fs|IL12RB2_ENST00000544434.1_Frame_Shift_Ins_p.Y360fs|IL12RB2_ENST00000371000.1_Frame_Shift_Ins_p.Y360fs	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	360	Fibronectin type-III 3. {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)	p.Y360H(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						AAATTCTCCACTATCAGGTGAC	0.47																																																1	Substitution - Missense(1)	lung(1)																																								SO:0001589	frameshift_variant	3595			U64198	CCDS638.1, CCDS58006.1, CCDS58007.1, CCDS72805.1	1p31.3-p31.2	2014-07-15			ENSG00000081985	ENSG00000081985		"Interleukins and interleukin receptors", "Fibronectin type III domain containing"	5972	protein-coding gene	gene with protein product		601642				9284929, 8943050	Standard	NM_001559		Approved		uc001ddu.3	Q99665	OTTHUMG00000009094	ENST00000262345.1:c.1078_1079dupTA	chr1.hg19:g.67816592_67816593dupTA	ENSP00000262345:p.Tyr360fs		B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Frame_Shift_Ins	INS	ENST00000262345.1	hg19	CCDS638.1																																																																																				0.47	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025202.2	NM_001559		TA	67816592	-	TA	67816591	7	5	777	1	0	1	1	0	0	0	0	0	7629	564	20	0	1107	0	IL12RB2	1	67816591	Frame_Shift_Ins	INS	-	TCGA-P4-AAVL-01A-11D-A42J-10	7445937	67816591	181434030	6	45900											
ABCD3	5825	hgsc.bcm.edu	37	1	94939389	94939389	+	Missense_Mutation	SNP	C	C	A			TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chr1:94939389C>A	ENST00000370214.4	+	5	427	c.403C>A	c.(403-405)Ctt>Att	p.L135I	ABCD3_ENST00000536817.1_Missense_Mutation_p.L62I|ABCD3_ENST00000315713.5_Missense_Mutation_p.L135I|ABCD3_ENST00000394233.2_Missense_Mutation_p.L135I|ABCD3_ENST00000454898.2_Missense_Mutation_p.L159I	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	135	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.|Interaction with PEX19.				ATP catabolic process (GO:0006200)|fatty acid beta-oxidation (GO:0006635)|peroxisome organization (GO:0007031)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		TGCCATGCCTCTTGTAAGTTT	0.328																																																0													110	105	107					1																	94939389		2203	4300	6503	SO:0001583	missense	5825			M81182	CCDS749.1, CCDS44175.1	1p21.3	2012-05-16			ENSG00000117528	ENSG00000117528		"ATP binding cassette transporters / subfamily D"	67	protein-coding gene	gene with protein product		170995		PXMP1		1301993, 8449508	Standard	NM_002858		Approved	PMP70, ZWS2	uc001dqn.4	P28288	OTTHUMG00000010717	ENST00000370214.4:c.403C>A	chr1.hg19:g.94939389C>A	ENSP00000359233:p.Leu135Ile		D3DT46|Q15271|Q6NUN5|Q96DA3|Q9H529	Missense_Mutation	SNP	ENST00000370214.4	hg19	CCDS749.1	.	.	.	.	.	.	.	.	.	.	C	10.59	1.392782	0.25118	.	.	ENSG00000117528	ENST00000394233;ENST00000454898;ENST00000536817;ENST00000370214;ENST00000315713	D;D;D;D;D	0.99652	-3.5;-3.5;-3.5;-3.5;-6.3	5.78	5.78	0.91487	ABC transporter, N-terminal (1);ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);	0.437369	0.25526	N	0.030069	D	0.96703	0.8924	L	0.31065	0.9	0.27177	N	0.960763	B;B;B;B	0.31680	0.005;0.335;0.001;0.004	B;B;B;B	0.31686	0.014;0.134;0.005;0.01	D	0.92520	0.6024	10	0.12766	T	0.61	-13.3859	14.7668	0.69646	0.0:0.7487:0.2513:0.0	.	159;135;135;135	E7EUE1;P28288-2;P28288;P28288-3	.;.;ABCD3_HUMAN;.	I	135;159;62;135;135	ENSP00000377780:L135I;ENSP00000403357:L159I;ENSP00000440692:L62I;ENSP00000359233:L135I;ENSP00000326880:L135I	ENSP00000326880:L135I	L	+	1	0	ABCD3	94711977	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.930000	0.40124	2.894000	0.99253	0.655000	0.94253	CTT		0.328	ABCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029597.1	NM_002858		A	94939389	C	A	94939389	3	1	777	1	0	0	0	0	1	0	0	0	62	913	32	4	421	4	ABCD3	1	94939389	Missense_Mutation	SNP	C	TCGA-P4-AAVL-01A-11D-A42J-10	27122798	94939389	154311232	7	45901											
CSDE1	7812	hgsc.bcm.edu	37	1	115280171	115280171	+	Missense_Mutation	SNP	A	A	T			TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chr1:115280171A>T	ENST00000358528.4	-	5	749	c.323T>A	c.(322-324)gTt>gAt	p.V108D	CSDE1_ENST00000438362.2_Missense_Mutation_p.V154D|CSDE1_ENST00000261443.5_Intron|CSDE1_ENST00000534699.1_Missense_Mutation_p.V108D|CSDE1_ENST00000369530.1_Intron|CSDE1_ENST00000530886.1_Intron|CSDE1_ENST00000339438.6_Intron	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	108					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)		GTTGTGAGGAACAGCGCACAC	0.398																																																0													64	55	58					1																	115280171		2203	4300	6503	SO:0001583	missense	7812				CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307			29905	protein-coding gene	gene with protein product	"upstream of NRAS"	191510				2204029, 10048485	Standard	NM_007158		Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000358528.4:c.323T>A	chr1.hg19:g.115280171A>T	ENSP00000351329:p.Val108Asp		A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Missense_Mutation	SNP	ENST00000358528.4	hg19	CCDS30812.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.041985	0.75732	.	.	ENSG00000009307	ENST00000438362;ENST00000358528;ENST00000534699	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	T	0.50752	0.1634	N	0.22421	0.69	0.80722	D	1	D;D	0.61697	0.971;0.99	P;P	0.58266	0.598;0.836	T	0.56715	-0.7933	8	0.49607	T	0.09	.	16.2631	0.82557	1.0:0.0:0.0:0.0	.	108;154	O75534;G5E9Q2	CSDE1_HUMAN;.	D	154;108;108	.	ENSP00000351329:V108D	V	-	2	0	CSDE1	115081694	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.676000	0.91199	2.239000	0.73571	0.528000	0.53228	GTT		0.398	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033397.1	NM_007158		T	115280171	A	T	115280171	3	4	777	1	0	0	0	0	1	0	0	0	3931	43	2	5	2137	5	CSDE1	1	115280171	Missense_Mutation	SNP	A	TCGA-P4-AAVL-01A-11D-A42J-10	20340782	115280171	133970450	8	45902											
KPRP	448834	hgsc.bcm.edu	37	1	152732843	152732843	+	Missense_Mutation	SNP	G	G	A			TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chr1:152732843G>A	ENST00000606109.1	+	1	807	c.779G>A	c.(778-780)cGg>cAg	p.R260Q	KPRP_ENST00000368773.1_Missense_Mutation_p.R260Q			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	260	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)			CCTCCTCCTCGGCGGCTGCAG	0.602																																																0													38	44	42					1																	152732843		2203	4300	6503	SO:0001583	missense	448834			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.779G>A	chr1.hg19:g.152732843G>A	ENSP00000475216:p.Arg260Gln			Missense_Mutation	SNP	ENST00000606109.1	hg19	CCDS30862.1	.	.	.	.	.	.	.	.	.	.	G	10.77	1.442856	0.25987	.	.	ENSG00000203786	ENST00000368773	T	0.16073	2.37	5.55	2.56	0.30785	.	0.833462	0.10411	N	0.677910	T	0.05731	0.0150	L	0.29908	0.895	0.09310	N	1	D	0.55385	0.971	P	0.45099	0.469	T	0.25467	-1.0131	10	0.72032	D	0.01	-9.8249	5.4492	0.16552	0.1811:0.1841:0.6347:0.0	.	260	Q5T749	KPRP_HUMAN	Q	260	ENSP00000357762:R260Q	ENSP00000357762:R260Q	R	+	2	0	KPRP	150999467	0.000000	0.05858	0.002000	0.10522	0.023000	0.10783	0.342000	0.19926	0.778000	0.33520	0.563000	0.77884	CGG		0.602	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		A	152732843	G	A	152732843	3	1	777	1	0	0	0	0	1	0	0	0	8438	1116	39	1	781	1	KPRP	1	152732843	Missense_Mutation	SNP	G	TCGA-P4-AAVL-01A-11D-A42J-10	37452672	152732843	96517778	9	45903											
FCRL4	83417	hgsc.bcm.edu	37	1	157548316	157548316	+	Silent	SNP	T	T	A			TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chr1:157548316T>A	ENST00000271532.1	-	10	1512	c.1377A>T	c.(1375-1377)ggA>ggT	p.G459G	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	459					immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				ATACCAAATCTCCCTTTTTGG	0.423																																																0													102	101	102					1																	157548316		2203	4300	6503	SO:0001819	synonymous_variant	83417			AF343661	CCDS1166.1	1q21	2013-01-14			ENSG00000163518	ENSG00000163518		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18507	protein-coding gene	gene with protein product		605876				11290337, 11493702	Standard	NM_031282		Approved	FCRH4, IRTA1, IGFP2, CD307d	uc001fqw.3	Q96PJ5	OTTHUMG00000035488	ENST00000271532.1:c.1377A>T	chr1.hg19:g.157548316T>A			Q96PJ3|Q96RE0	Silent	SNP	ENST00000271532.1	hg19	CCDS1166.1																																																																																				0.423	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086180.1	NM_031282		A	157548316	T	A	157548316	2	1	777	1	0	0	0	0	0	0	0	1	5799	1538	54	5		5	FCRL4	1	157548316	Silent	SNP	T	TCGA-P4-AAVL-01A-11D-A42J-10	4815473	157548316	91702305	10	45904											
MYO7B	4648	hgsc.bcm.edu	37	2	128389949	128389949	+	Missense_Mutation	SNP	G	G	C			TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chr2:128389949G>C	ENST00000409816.2	+	37	5332	c.5300G>C	c.(5299-5301)tGc>tCc	p.C1767S	MYO7B_ENST00000409090.1_Missense_Mutation_p.C620S|MYO7B_ENST00000389524.4_Missense_Mutation_p.C1768S|MYO7B_ENST00000428314.1_Missense_Mutation_p.C1767S			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1767	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)		GCCCCCGACTGCAGCCGCCGA	0.682																																																0													34	43	40					2																	128389949		1762	3946	5708	SO:0001583	missense	4648				CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"Myosins / Myosin superfamily : Class VII"	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.5300G>C	chr2.hg19:g.128389949G>C	ENSP00000386461:p.Cys1767Ser		Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	hg19	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	g	16.39	3.108746	0.56291	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000272666;ENST00000409816;ENST00000409090	D;D;D;D	0.92495	-3.05;-3.05;-3.05;-3.05	4.84	4.84	0.62591	MyTH4 domain (3);	0.000000	0.85682	D	0.000000	D	0.93746	0.8001	L	0.56396	1.775	0.54753	D	0.999982	D	0.55605	0.972	P	0.56216	0.794	D	0.93035	0.6452	10	0.36615	T	0.2	.	17.9396	0.89023	0.0:0.0:1.0:0.0	.	1767	Q6PIF6	MYO7B_HUMAN	S	1768;1767;863;1767;620	ENSP00000374175:C1768S;ENSP00000415090:C1767S;ENSP00000386461:C1767S;ENSP00000386850:C620S	ENSP00000272666:C863S	C	+	2	0	MYO7B	128106419	1.000000	0.71417	0.996000	0.52242	0.162000	0.22319	6.281000	0.72632	2.229000	0.72834	0.561000	0.74099	TGC		0.682	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		C	128389949	G	C	128389949	3	2	777	1	0	0	0	0	1	0	0	0	10085	1319	46	4	5446	4	MYO7B	2	128389949	Missense_Mutation	SNP	G	TCGA-P4-AAVL-01A-11D-A42J-10		128389949	114809424	11	45905											
LRTM1	57408	hgsc.bcm.edu	37	3	54958819	54958819	+	Missense_Mutation	SNP	G	G	A			TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chr3:54958819G>A	ENST00000273286.5	-	2	593	c.431C>T	c.(430-432)aCt>aTt	p.T144I	CACNA2D3_ENST00000474759.1_Intron|LRTM1_ENST00000493075.1_Missense_Mutation_p.T68I|CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000288197.5_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	144						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)		GTTCTCCCAAGTCTCTCCCAA	0.493																																																0													95	91	93					3																	54958819		2203	4300	6503	SO:0001583	missense	57408			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.431C>T	chr3.hg19:g.54958819G>A	ENSP00000273286:p.Thr144Ile		Q8IUU2	Missense_Mutation	SNP	ENST00000273286.5	hg19	CCDS2876.1	.	.	.	.	.	.	.	.	.	.	G	3.291	-0.144996	0.06627	.	.	ENSG00000144771	ENST00000273286;ENST00000493075	T;D	0.90069	4.29;-2.61	5.96	2.13	0.27403	.	0.822907	0.11590	N	0.548818	T	0.78842	0.4347	L	0.32530	0.975	0.09310	N	1	B	0.28713	0.22	B	0.24848	0.056	T	0.65261	-0.6211	10	0.37606	T	0.19	.	1.0945	0.01670	0.1978:0.2377:0.3423:0.2222	.	144	Q9HBL6	LRTM1_HUMAN	I	144;68	ENSP00000273286:T144I;ENSP00000419772:T68I	ENSP00000273286:T144I	T	-	2	0	LRTM1	54933859	0.009000	0.17119	0.032000	0.17829	0.140000	0.21249	0.516000	0.22817	0.102000	0.17638	-0.126000	0.14955	ACT		0.493	LRTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351399.1	NM_020678		A	54958819	G	A	54958819	3	1	777	1	0	0	0	0	1	0	0	0	9046	1029	36	2	614	2	LRTM1	3	54958819	Missense_Mutation	SNP	G	TCGA-P4-AAVL-01A-11D-A42J-10		54958819	143063611	12	45906											
KALRN	8997	hgsc.bcm.edu	37	3	124210171	124210171	+	Splice_Site	SNP	C	C	T			TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chr3:124210171C>T	ENST00000240874.3	+	31	4740	c.4583C>T	c.(4582-4584)aCc>aTc	p.T1528I	KALRN_ENST00000460856.1_Splice_Site_p.T1519I|KALRN_ENST00000360013.3_Splice_Site_p.T1528I	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1528	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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						TGTCTACAGACCTCAGAGCTG	0.577																																																0													55	51	52					3																	124210171		2203	4300	6503	SO:0001630	splice_region_variant	8997			U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	4814	protein-coding gene	gene with protein product	"serine/threonine kinase with Dbl and pleckstrin homology domains"	604605	"huntingtin-associated protein interacting protein (duo)"	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.4582-1C>T	chr3.hg19:g.124210171C>T			A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	hg19	CCDS3027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.2|25.2	4.610758|4.610758	0.87258|0.87258	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000354186|ENST00000460856;ENST00000240874;ENST00000360013	.|T;T;T	.|0.10668	.|2.85;2.85;2.85	5.12|5.12	5.12|5.12	0.69794|0.69794	.|Pleckstrin homology-type (1);Pleckstrin homology domain (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.35158|0.35158	0.0922|0.0922	M|M	0.80422|0.80422	2.495|2.495	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.64830	.|0.986;0.994;0.992	.|P;D;P	.|0.67231	.|0.602;0.95;0.776	T|T	0.03354|0.03354	-1.1045|-1.1045	5|10	.|0.34782	.|T	.|0.22	.|.	18.7502|18.7502	0.91810|0.91810	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1519;1528;1528	.|C9IZQ6;O60229;O60229-2	.|.;KALRN_HUMAN;.	S|I	1497|1519;1528;1528	.|ENSP00000418611:T1519I;ENSP00000240874:T1528I;ENSP00000353109:T1528I	.|ENSP00000240874:T1528I	P|T	+|+	1|2	0|0	KALRN|KALRN	125692861|125692861	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.651000|7.651000	0.83577|0.83577	2.664000|2.664000	0.90586|0.90586	0.655000|0.655000	0.94253|0.94253	CCT|ACC		0.577	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947	Missense_Mutation	T	124210171	C	T	124210171	5	4	777	1	0	0	0	0	0	0	1	0	7977	521	18	2	4705	2	KALRN	3	124210171	Splice_Site	SNP	C	TCGA-P4-AAVL-01A-11D-A42J-10	69251352	124210171	73812259	13	45907											
IFT122	55764	hgsc.bcm.edu	37	3	129185869	129185869	+	Missense_Mutation	SNP	G	G	A			TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chr3:129185869G>A	ENST00000348417.2	+	8	777	c.700G>A	c.(700-702)Gaa>Aaa	p.E234K	IFT122_ENST00000440957.2_Intron|IFT122_ENST00000431818.2_Missense_Mutation_p.E84K|IFT122_ENST00000504021.1_Intron|IFT122_ENST00000347300.2_Intron|IFT122_ENST00000296266.3_Missense_Mutation_p.E285K|IFT122_ENST00000349441.2_Intron|IFT122_ENST00000507564.1_Intron	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	234					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						AGAGGAGGAAGAACCAGAGGA	0.532																																																0													149	155	153					3																	129185869		2203	4300	6503	SO:0001583	missense	55764			AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"WD repeat domain containing", "Intraflagellar transport homologs"	13556	protein-coding gene	gene with protein product		606045	"WD repeat domain 10", "intraflagellar transport 122 homolog (Chlamydomonas)"	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.700G>A	chr3.hg19:g.129185869G>A	ENSP00000324005:p.Glu234Lys		B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Missense_Mutation	SNP	ENST00000348417.2	hg19	CCDS3061.1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.907475	0.33721	.	.	ENSG00000163913	ENST00000296266;ENST00000431818;ENST00000348417	T;T;T	0.60797	0.16;0.37;0.85	4.64	3.77	0.43336	WD40 repeat-like-containing domain (1);	1.002150	0.08040	N	0.995052	T	0.34193	0.0889	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.09377	0.001;0.004	T	0.10222	-1.0639	10	0.05959	T	0.93	-10.4607	10.2543	0.43388	0.094:0.0:0.906:0.0	.	234;285	Q9HBG6;G3XAB1	IF122_HUMAN;.	K	285;84;234	ENSP00000296266:E285K;ENSP00000410946:E84K;ENSP00000324005:E234K	ENSP00000296266:E285K	E	+	1	0	IFT122	130668559	1.000000	0.71417	0.999000	0.59377	0.943000	0.58893	2.087000	0.41653	1.190000	0.43042	-0.448000	0.05591	GAA		0.532	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1	NM_018262		A	129185869	G	A	129185869	3	1	777	1	0	0	0	0	1	0	0	0	7557	943	33	2	887	2	IFT122	3	129185869	Missense_Mutation	SNP	G	TCGA-P4-AAVL-01A-11D-A42J-10	4975698	129185869	68836561	14	45908											
SEL1L3	23231	hgsc.bcm.edu	37	4	25759396	25759396	+	Missense_Mutation	SNP	T	T	A			TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chr4:25759396T>A	ENST00000399878.3	-	22	3222	c.3100A>T	c.(3100-3102)Aac>Tac	p.N1034Y	SEL1L3_ENST00000502949.1_Missense_Mutation_p.N881Y|SEL1L3_ENST00000264868.5_Missense_Mutation_p.N999Y	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	1034						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						GACTCCTCGTTACTGTGGCTC	0.567																																																0													45	56	52					4																	25759396		2095	4221	6316	SO:0001583	missense	23231			BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"KIAA0746 protein"					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.3100A>T	chr4.hg19:g.25759396T>A	ENSP00000382767:p.Asn1034Tyr		A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Missense_Mutation	SNP	ENST00000399878.3	hg19	CCDS47037.1	.	.	.	.	.	.	.	.	.	.	T	15.32	2.798546	0.50208	.	.	ENSG00000091490	ENST00000399878;ENST00000264868;ENST00000502949	T;T;T	0.16743	2.53;2.54;2.32	5.61	1.51	0.23008	.	0.645110	0.17263	N	0.180719	T	0.31167	0.0788	L	0.60455	1.87	0.09310	N	1	D;P	0.65815	0.995;0.918	P;P	0.59221	0.854;0.534	T	0.11867	-1.0570	10	0.72032	D	0.01	-0.8083	12.2959	0.54847	0.0:0.0:0.4122:0.5878	.	441;1034	B4DTH5;Q68CR1	.;SE1L3_HUMAN	Y	1034;999;881	ENSP00000382767:N1034Y;ENSP00000264868:N999Y;ENSP00000425438:N881Y	ENSP00000264868:N999Y	N	-	1	0	SEL1L3	25368494	0.040000	0.19996	0.000000	0.03702	0.644000	0.38419	2.343000	0.44001	0.092000	0.17331	0.533000	0.62120	AAC		0.567	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1	NM_015187		A	25759396	T	A	25759396	3	1	777	1	0	0	0	0	1	0	0	0	14018	1754	61	5	310	5	SEL1L3	4	25759396	Missense_Mutation	SNP	T	TCGA-P4-AAVL-01A-11D-A42J-10		25759396	165394880	15	45909											
TMPRSS11F	389208	hgsc.bcm.edu	37	4	68934461	68934461	+	Missense_Mutation	SNP	C	C	A			TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chr4:68934461C>A	ENST00000356291.2	-	7	689	c.630G>T	c.(628-630)agG>agT	p.R210S	UBA6-AS1_ENST00000499180.2_RNA|UBA6-AS1_ENST00000511571.1_RNA|UBA6-AS1_ENST00000500538.2_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	210	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					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						TAGCTGTTTCCCTTCCTTGGA	0.498																																																0													120	107	111					4																	68934461		2203	4300	6503	SO:0001583	missense	389208			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.630G>T	chr4.hg19:g.68934461C>A	ENSP00000348639:p.Arg210Ser		A8MXX2	Missense_Mutation	SNP	ENST00000356291.2	hg19	CCDS3520.1	.	.	.	.	.	.	.	.	.	.	C	6.884	0.532541	0.13127	.	.	ENSG00000198092	ENST00000356291	D	0.88354	-2.37	5.43	-0.132	0.13489	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.197117	0.34932	N	0.003580	T	0.69351	0.3101	N	0.05574	-0.02	0.09310	N	1	B	0.10296	0.003	B	0.12837	0.008	T	0.54814	-0.8237	10	0.12103	T	0.63	.	3.808	0.08785	0.2927:0.4276:0.0:0.2797	.	210	Q6ZWK6	TM11F_HUMAN	S	210	ENSP00000348639:R210S	ENSP00000348639:R210S	R	-	3	2	TMPRSS11F	68617056	0.000000	0.05858	0.816000	0.32577	0.629000	0.37895	-0.086000	0.11233	0.008000	0.14787	-0.136000	0.14681	AGG		0.498	TMPRSS11F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251439.1	NM_207407		A	68934461	C	A	68934461	3	1	777	1	0	0	0	0	1	0	0	0	16248	622	22	4	702	4	TMPRSS11F	4	68934461	Missense_Mutation	SNP	C	TCGA-P4-AAVL-01A-11D-A42J-10	43175065	68934461	122219815	16	45910											
FNIP2	57600	hgsc.bcm.edu	37	4	159812743	159812743	+	Missense_Mutation	SNP	C	C	G			TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chr4:159812743C>G	ENST00000264433.6	+	15	3170	c.3095C>G	c.(3094-3096)tCc>tGc	p.S1032C	FNIP2_ENST00000379346.3_Missense_Mutation_p.S1055C|C4orf45_ENST00000508011.1_5'Flank	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	1032					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		AGTCAGGTGTCCAGTTTGCTT	0.428																																																0													150	142	145					4																	159812743		1955	4149	6104	SO:0001583	missense	57600			AB040883	CCDS47155.1	4q32.1	2012-10-31			ENSG00000052795	ENSG00000052795			29280	protein-coding gene	gene with protein product	"O6-methylguanine-induced apoptosis 1"	612768				18403135	Standard	NM_020840		Approved	KIAA1450, FNIPL, MAPO1	uc003iqe.4	Q9P278	OTTHUMG00000161983	ENST00000264433.6:c.3095C>G	chr4.hg19:g.159812743C>G	ENSP00000264433:p.Ser1032Cys		Q05DC3|Q96I31|Q9H994	Missense_Mutation	SNP	ENST00000264433.6	hg19	CCDS47155.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.938238	0.52972	.	.	ENSG00000052795	ENST00000264433;ENST00000379346	T;T	0.30448	1.53;1.53	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.45418	0.1341	M	0.86740	2.835	0.50039	D	0.999849	B	0.22909	0.077	B	0.27170	0.077	T	0.43734	-0.9373	9	.	.	.	.	19.466	0.94939	0.0:1.0:0.0:0.0	.	1032	Q9P278	FNIP2_HUMAN	C	1032;1055	ENSP00000264433:S1032C;ENSP00000368651:S1055C	.	S	+	2	0	FNIP2	160032193	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	3.916000	0.56416	2.607000	0.88179	0.655000	0.94253	TCC		0.428	FNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366602.1	NM_020840		G	159812743	C	G	159812743	3	3	777	1	0	0	0	0	1	0	0	0	5978	855	30	4	3153	4	FNIP2	4	159812743	Missense_Mutation	SNP	C	TCGA-P4-AAVL-01A-11D-A42J-10	90878282	159812743	31341533	17	45911											
RAPGEF6	51735	hgsc.bcm.edu	37	5	130791652	130791652	+	Missense_Mutation	SNP	G	G	C			TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chr5:130791652G>C	ENST00000509018.1	-	20	3123	c.2918C>G	c.(2917-2919)cCa>cGa	p.P973R	CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.P1023R|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.P688R|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.P973R|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.P978R|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.P973R|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.P973R	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	973	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				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)		GTATTTGCTTGGTAACTTTTC	0.373																																					Melanoma(168;435 1955 13113 13877 23213)											0													120	113	116					5																	130791652		2203	4300	6503	SO:0001583	missense	51735			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.2918C>G	chr5.hg19:g.130791652G>C	ENSP00000421684:p.Pro973Arg		A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	hg19	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.634801	0.87760	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000512052;ENST00000308008;ENST00000514667	T;T;T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;1.4;1.4;1.4	5.2	5.2	0.72013	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.69771	0.3148	M	0.91717	3.235	0.80722	D	1	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	0.97110	1.0;0.991;1.0;1.0;1.0;1.0;0.999	T	0.77504	-0.2563	10	0.87932	D	0	.	19.0931	0.93235	0.0:0.0:1.0:0.0	.	973;973;973;688;1023;978;973	A3KN82;B7ZML2;Q8TEU7-2;D6RE77;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;.;.;RPGF6_HUMAN	R	973;978;973;973;978;688;973;1023	ENSP00000421684:P973R;ENSP00000309298:P978R;ENSP00000426081:P973R;ENSP00000296859:P973R;ENSP00000426910:P688R;ENSP00000311419:P973R;ENSP00000426948:P1023R	ENSP00000426948:P1023R	P	-	2	0	RAPGEF6;FNIP1	130819551	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.809000	0.99208	2.591000	0.87537	0.591000	0.81541	CCA		0.373	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		C	130791652	G	C	130791652	3	2	777	1	0	0	0	0	1	0	0	0	13054	1348	47	4	2386	4	RAPGEF6	5	130791652	Missense_Mutation	SNP	G	TCGA-P4-AAVL-01A-11D-A42J-10		130791652	50123608	18	45912											
PCDHB3	56132	hgsc.bcm.edu	37	5	140482079	140482079	+	Missense_Mutation	SNP	G	G	C			TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chr5:140482079G>C	ENST00000231130.2	+	1	1846	c.1846G>C	c.(1846-1848)Ggc>Cgc	p.G616R	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	616	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)			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)			CGGGCTGTTCGGCGTGTGGGC	0.687																																																0													26	28	27					5																	140482079		2076	4062	6138	SO:0001583	missense	56132			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.1846G>C	chr5.hg19:g.140482079G>C	ENSP00000231130:p.Gly616Arg		B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	hg19	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.286214	0.59867	.	.	ENSG00000113205	ENST00000231130	T	0.45276	0.9	4.38	-3.96	0.04106	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.23171	0.0560	N	0.00750	-1.22	0.25473	N	0.987806	P	0.51449	0.945	P	0.56916	0.809	T	0.35549	-0.9784	9	0.72032	D	0.01	.	8.1319	0.31033	0.6547:0.233:0.1123:0.0	.	616	Q9Y5E6	PCDB3_HUMAN	R	616	ENSP00000231130:G616R	ENSP00000231130:G616R	G	+	1	0	PCDHB3	140462263	0.000000	0.05858	0.994000	0.49952	0.984000	0.73092	-2.316000	0.01123	-0.517000	0.06461	-0.378000	0.06908	GGC		0.687	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		C	140482079	G	C	140482079	3	2	777	1	0	0	0	0	1	0	0	0	11545	1116	39	4	1848	4	PCDHB3	5	140482079	Missense_Mutation	SNP	G	TCGA-P4-AAVL-01A-11D-A42J-10	9690427	140482079	40433181	19	45913											
KIFC1	3833	hgsc.bcm.edu	37	6	33365934	33365934	+	Silent	SNP	G	G	A	rs368144446		TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chr6:33365934G>A	ENST00000428849.2	+	2	591	c.141G>A	c.(139-141)gaG>gaA	p.E47E		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	47					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						ATGGCCTGGAGCCTGAGAAGG	0.537																																																0								G		0,4406		0,0,2203	59	62	61		141	3	1	6		61	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KIFC1	NM_002263.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		47/674	33365934	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3833			D14678	CCDS34430.1	6p21.32	2014-05-15	2003-01-09	2003-01-10	ENSG00000237649	ENSG00000237649		"Kinesins"	6389	protein-coding gene	gene with protein product		603763	"kinesin-like 2"	KNSL2		8276466	Standard	NM_002263		Approved	HSET	uc003oef.4	Q9BW19	OTTHUMG00000031209	ENST00000428849.2:c.141G>A	chr6.hg19:g.33365934G>A			O60887|Q14834|Q4KMP0|Q5SU09|Q6GMS7|Q6P4A5|Q9UQP7	Silent	SNP	ENST00000428849.2	hg19	CCDS34430.1																																																																																				0.537	KIFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076417.1	NM_002263		A	33365934	G	A	33365934	2	1	777	1	0	0	0	0	0	0	0	1	8314	962	34	2		2	KIFC1	6	33365934	Silent	SNP	G	TCGA-P4-AAVL-01A-11D-A42J-10		33365934	137749133	20	45914											
TULP4	56995	hgsc.bcm.edu	37	6	158882608	158882629	+	Frame_Shift_Del	DEL	GTGGTGCACACAGGGGGACTTG	GTGGTGCACACAGGGGGACTTG	-			TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	GTGGTGCACACAGGGGGACTTG	GTGGTGCACACAGGGGGACTTG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chr6:158882608_158882629delGTGGTGCACACAGGGGGACTTG	ENST00000367097.3	+	6	2230_2251	c.873_894delGTGGTGCACACAGGGGGACTTG	c.(871-894)cagtggtgcacacagggggacttgfs	p.QWCTQGDL291fs	TULP4_ENST00000367094.2_Frame_Shift_Del_p.QWCTQGDL291fs	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	291					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)		TGGTAGCCCAGTGGTGCACACAGGGGGACTTGCTGGCAGTCG	0.55																																																0																																										SO:0001589	frameshift_variant	56995				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.873_894delGTGGTGCACACAGGGGGACTTG	chr6.hg19:g.158882608_158882629delGTGGTGCACACAGGGGGACTTG	ENSP00000356064:p.Gln291fs		Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Frame_Shift_Del	DEL	ENST00000367097.3	hg19	CCDS34561.1																																																																																				0.55	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245		-	158882629	GTGGTGCACACAGGGGGACTTG	-	158882608	7	5	777	1	0	1	0	1	0	0	0	0	16781	1020	36	0	895	0	TULP4	6	158882608	Frame_Shift_Del	DEL	GTGGTGCACACAGGGGGACTTG	TCGA-P4-AAVL-01A-11D-A42J-10	125516674	158882608	12232459	21	45915											
TNRC18	84629	hgsc.bcm.edu	37	7	5352473	5352476	+	Frame_Shift_Del	DEL	ATCG	ATCG	-			TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	ATCG	ATCG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chr7:5352473_5352476delATCG	ENST00000430969.1	-	27	8394_8397	c.8046_8049delCGAT	c.(8044-8049)gacgatfs	p.DD2682fs	TNRC18_ENST00000399537.4_Frame_Shift_Del_p.DD2682fs	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2682							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)		GGGCTGCCTCATCGTCCGAGCTGC	0.691																																																0																																										SO:0001589	frameshift_variant	84629			U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"Trinucleotide (CAG) repeat containing"	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.8046_8049delCGAT	chr7.hg19:g.5352473_5352476delATCG	ENSP00000395538:p.Asp2682fs		A8MX41|Q96JH1|Q96K91	Frame_Shift_Del	DEL	ENST00000430969.1	hg19	CCDS47534.1																																																																																				0.691	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				-	5352476	ATCG	-	5352473	7	5	777	1	0	1	0	1	0	0	0	0	16344	214	8	0	873	0	TNRC18	7	5352473	Frame_Shift_Del	DEL	ATCG	TCGA-P4-AAVL-01A-11D-A42J-10		5352473	153786190	22	45916											
CALCR	799	hgsc.bcm.edu	37	7	93090259	93090259	+	Splice_Site	DEL	C	C	-			TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chr7:93090259delC	ENST00000394441.1	-	7	837	c.522delG	c.(520-522)agg>ag	p.R174fs	CALCR_ENST00000421592.1_Splice_Site_p.L190fs|CALCR_ENST00000426151.1_Splice_Site_p.R174fs|CALCR_ENST00000360249.4_Splice_Site_p.L190fs|CALCR_ENST00000359558.2_Splice_Site_p.L208fs	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	192					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)			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)	AGCCAAGGCTCCTGGAAGAAA	0.348																																																0													100	100	100					7																	93090259		2203	4300	6503	SO:0001630	splice_region_variant	799			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.522-1G>-	chr7.hg19:g.93090259delC			A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Frame_Shift_Del	DEL	ENST00000394441.1	hg19	CCDS5631.1																																																																																				0.348	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742	Frame_Shift_Del	-	93090259	C	-	93090259	8	5	777	1	0	1	0	1	0	0	1	0	2581	869	30	0	930	0	CALCR	7	93090259	Splice_Site	DEL	C	TCGA-P4-AAVL-01A-11D-A42J-10	87737786	93090259	66048404	23	45917	491	2									
CALCR	799	hgsc.bcm.edu	37	7	93090260	93090267	+	Splice_Site	DEL	CTGGAAGA	CTGGAAGA	-	rs375917807		TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	CTGGAAGA	CTGGAAGA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chr7:93090260_93090267delCTGGAAGA	ENST00000394441.1	-	7	837		c.e7-1		CALCR_ENST00000421592.1_Splice_Site|CALCR_ENST00000426151.1_Splice_Site|CALCR_ENST00000360249.4_Splice_Site|CALCR_ENST00000359558.2_Splice_Site	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor						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)			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)	GCCAAGGCTCCTGGAAGAAAAAGTAACA	0.346																																																0																																										SO:0001630	splice_region_variant	799			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.522-1TCTTCCAG>-	chr7.hg19:g.93090260_93090267delCTGGAAGA			A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Frame_Shift_Del	DEL	ENST00000394441.1	hg19	CCDS5631.1																																																																																				0.346	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742	Intron	-	93090267	CTGGAAGA	-	93090260	8	5	777	1	0	1	0	1	0	0	1	0	2581	695	24	0	931	0	CALCR	7	93090260	Splice_Site	DEL	CTGGAAGA	TCGA-P4-AAVL-01A-11D-A42J-10	1	93090260	66048403	24	45918	491	2									
ACN9	57001	hgsc.bcm.edu	37	7	96810419	96810420	+	Frame_Shift_Ins	INS	-	-	A	rs150372148		TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chr7:96810419_96810420insA	ENST00000432641.2	+	2	1404_1405	c.270_271insA	c.(271-273)aatfs	p.N91fs	ACN9_ENST00000360382.4_3'UTR|ACN9_ENST00000479853.1_3'UTR	NM_020186.2	NP_064571.1			ACN9 homolog (S. cerevisiae)											large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(3)	10	all_cancers(62;2.54e-08)|all_epithelial(64;2.24e-08)|Esophageal squamous(72;0.00507)|all_lung(186;0.154)|Lung NSC(181;0.159)					AAGAAAAACTTAATGACTTTCG	0.391																																																0																																										SO:0001589	frameshift_variant	57001			BC028409	CCDS5648.1	7q22.1	2006-02-09			ENSG00000196636	ENSG00000196636			21752	protein-coding gene	gene with protein product		615773					Standard	NM_020186		Approved	DC11	uc003uoo.4	Q9NRP4	OTTHUMG00000154064	ENST00000432641.2:c.272dupA	chr7.hg19:g.96810421_96810421dupA	ENSP00000414066:p.Asn91fs			Frame_Shift_Ins	INS	ENST00000432641.2	hg19	CCDS5648.1																																																																																				0.391	ACN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333685.3	NM_020186		A	96810420	-	A	96810419	7	5	777	1	0	1	1	0	0	0	0	0	145	1741	61	0	276	0	ACN9	7	96810419	Frame_Shift_Ins	INS	-	TCGA-P4-AAVL-01A-11D-A42J-10	3720159	96810419	62328244	25	45919											
POP7	10248	hgsc.bcm.edu	37	7	100304640	100304640	+	Nonsense_Mutation	SNP	C	C	T			TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chr7:100304640C>T	ENST00000303151.4	+	2	449	c.187C>T	c.(187-189)Cag>Tag	p.Q63*		NM_005837.2	NP_005828.2	O75817	POP7_HUMAN	processing of precursor 7, ribonuclease P/MRP subunit (S. cerevisiae)	63					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleolar ribonuclease P complex (GO:0005655)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ribonuclease P activity (GO:0004526)			endometrium(2)|kidney(1)|ovary(1)	4	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGCCCGGGGTCAGAACGCGTG	0.622																																																0													89	102	98					7																	100304640		2203	4300	6503	SO:0001587	stop_gained	10248			U94316	CCDS5704.1	7q22	2012-05-21	2007-06-26		ENSG00000172336	ENSG00000172336			19949	protein-coding gene	gene with protein product	"ribonuclease P protein subunit p20"	606113	"processing of precursor 7, ribonuclease P subunit (S. cerevisiae)"			9630247	Standard	NM_005837		Approved	RPP20, RPP2	uc003uwh.4	O75817	OTTHUMG00000044311	ENST00000303151.4:c.187C>T	chr7.hg19:g.100304640C>T	ENSP00000304353:p.Gln63*		A4D2E0|Q9BV74	Nonsense_Mutation	SNP	ENST00000303151.4	hg19	CCDS5704.1	.	.	.	.	.	.	.	.	.	.	C	33	5.245502	0.95272	.	.	ENSG00000172336	ENST00000303151;ENST00000457480	.	.	.	5.47	4.54	0.55810	.	0.000000	0.45361	D	0.000366	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-19.7764	11.4012	0.49871	0.0:0.8177:0.1823:0.0	.	.	.	.	X	63	.	ENSP00000304353:Q63X	Q	+	1	0	POP7	100142576	0.998000	0.40836	0.999000	0.59377	0.699000	0.40488	3.263000	0.51546	2.558000	0.86282	0.561000	0.74099	CAG		0.622	POP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103070.1	NM_005837		T	100304640	C	T	100304640	4	4	777	1	0	0	0	0	0	1	0	0	12256	827	29	2	189	2	POP7	7	100304640	Nonsense_Mutation	SNP	C	TCGA-P4-AAVL-01A-11D-A42J-10	3494221	100304640	58834023	26	45920											
RELN	5649	hgsc.bcm.edu	37	7	103474054	103474054	+	Missense_Mutation	SNP	G	G	C			TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chr7:103474054G>C	ENST00000428762.1	-	3	562	c.403C>G	c.(403-405)Cac>Gac	p.H135D	RELN_ENST00000424685.2_Missense_Mutation_p.H135D|RELN_ENST00000343529.5_Missense_Mutation_p.H135D	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	135	Reelin. {ECO:0000255|PROSITE- ProRule:PRU00363}.				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)		GTGGGCAGGTGACTCACGTGA	0.483																																					NSCLC(146;835 1944 15585 22231 52158)											0													121	106	111					7																	103474054		2203	4300	6503	SO:0001583	missense	5649				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.403C>G	chr7.hg19:g.103474054G>C	ENSP00000392423:p.His135Asp		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	hg19	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.958642	0.92726	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.21543	2.0;2.0;2.0	5.33	5.33	0.75918	Reeler domain (2);	0.000000	0.85682	D	0.000000	T	0.31857	0.0810	N	0.14661	0.345	0.80722	D	1	D;D	0.62365	0.989;0.991	D;D	0.78314	0.985;0.991	T	0.17167	-1.0378	10	0.42905	T	0.14	.	19.3931	0.94592	0.0:0.0:1.0:0.0	.	135;135	P78509-2;P78509	.;RELN_HUMAN	D	135	ENSP00000392423:H135D;ENSP00000345694:H135D;ENSP00000388446:H135D	ENSP00000345694:H135D	H	-	1	0	RELN	103261290	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.788000	0.91834	2.634000	0.89283	0.650000	0.86243	CAC		0.483	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		C	103474054	G	C	103474054	3	2	777	1	0	0	0	0	1	0	0	0	13226	1290	45	4	10231	4	RELN	7	103474054	Missense_Mutation	SNP	G	TCGA-P4-AAVL-01A-11D-A42J-10	3169414	103474054	55664609	27	45921											
SND1	27044	hgsc.bcm.edu	37	7	127725765	127725765	+	Missense_Mutation	SNP	A	A	G			TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chr7:127725765A>G	ENST00000354725.3	+	20	2431	c.2237A>G	c.(2236-2238)tAc>tGc	p.Y746C		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	746	Tudor. {ECO:0000255|PROSITE- ProRule:PRU00211}.				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						CATTGCAGGTACCGTGCCCGA	0.572																																																0													173	156	162					7																	127725765		2203	4300	6503	SO:0001583	missense	27044				CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157		"Tudor domain containing"	30646	protein-coding gene	gene with protein product	"p100 EBNA2 co-activator", "Tudor-SN"	602181				7651391, 9003410, 12819296	Standard	NM_014390		Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.2237A>G	chr7.hg19:g.127725765A>G	ENSP00000346762:p.Tyr746Cys		Q13122|Q96AG0	Missense_Mutation	SNP	ENST00000354725.3	hg19	CCDS34747.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.305315	0.81247	.	.	ENSG00000197157	ENST00000354725;ENST00000438400	T	0.14022	2.54	5.34	5.34	0.76211	Tudor subgroup (1);Staphylococcal nuclease (SNase-like) (1);Staphylococcal nuclease (SNase-like), OB-fold (1);Maternal tudor protein (1);Tudor domain (1);	0.118078	0.64402	D	0.000014	T	0.52370	0.1730	H	0.97540	4.025	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68891	-0.5289	10	0.62326	D	0.03	-15.954	13.5717	0.61851	1.0:0.0:0.0:0.0	.	746	Q7KZF4	SND1_HUMAN	C	746;736	ENSP00000346762:Y746C	ENSP00000346762:Y746C	Y	+	2	0	SND1	127513001	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.540000	0.90641	2.144000	0.66660	0.533000	0.62120	TAC		0.572	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349148.1	NM_014390		G	127725765	A	G	127725765	3	3	777	1	0	0	0	0	1	0	0	0	14850	391	14	3	2315	3	SND1	7	127725765	Missense_Mutation	SNP	A	TCGA-P4-AAVL-01A-11D-A42J-10	24251711	127725765	31412898	28	45922											
PLXNA4	91584	hgsc.bcm.edu	37	7	131864511	131864511	+	Missense_Mutation	SNP	G	G	A			TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chr7:131864511G>A	ENST00000359827.3	-	20	4771	c.3809C>T	c.(3808-3810)aCg>aTg	p.T1270M	PLXNA4_ENST00000321063.4_Missense_Mutation_p.T1270M			Q9HCM2	PLXA4_HUMAN	plexin A4	1270					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						CCGCTTCAGCGTGAGGTCACT	0.597																																																0													55	52	53					7																	131864511		2203	4300	6503	SO:0001583	missense	91584			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.3809C>T	chr7.hg19:g.131864511G>A	ENSP00000352882:p.Thr1270Met		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	hg19	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.723727	0.89298	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.00986	5.47;5.47	4.82	4.82	0.62117	.	0.089584	0.85682	D	0.000000	T	0.05777	0.0151	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.18587	-1.0332	10	0.59425	D	0.04	.	18.0686	0.89398	0.0:0.0:1.0:0.0	.	1270	Q9HCM2	PLXA4_HUMAN	M	1270	ENSP00000323194:T1270M;ENSP00000352882:T1270M	ENSP00000323194:T1270M	T	-	2	0	PLXNA4	131515051	1.000000	0.71417	0.924000	0.36721	0.952000	0.60782	9.618000	0.98365	2.524000	0.85096	0.484000	0.47621	ACG		0.597	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		A	131864511	G	A	131864511	3	1	777	1	0	0	0	0	1	0	0	0	12124	1145	40	1	1927	1	PLXNA4	7	131864511	Missense_Mutation	SNP	G	TCGA-P4-AAVL-01A-11D-A42J-10	4138746	131864511	27274152	29	45923											
ZNF425	155054	hgsc.bcm.edu	37	7	148801369	148801369	+	Missense_Mutation	SNP	C	C	T			TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chr7:148801369C>T	ENST00000378061.2	-	4	1726	c.1594G>A	c.(1594-1596)Ggc>Agc	p.G532S		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	532					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)			AAACTGCGGCCGCACTCGGCG	0.627																																																0													38	34	35					7																	148801369		2203	4300	6503	SO:0001583	missense	155054			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.1594G>A	chr7.hg19:g.148801369C>T	ENSP00000367300:p.Gly532Ser		B3KPM1|Q08AG3	Missense_Mutation	SNP	ENST00000378061.2	hg19	CCDS34773.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.270839	0.40194	.	.	ENSG00000204947	ENST00000378061	T	0.20463	2.07	2.75	-4.16	0.03869	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12135	0.0295	L	0.38175	1.15	0.23704	N	0.997065	P	0.44816	0.844	B	0.29942	0.109	T	0.10613	-1.0622	9	0.87932	D	0	.	11.3998	0.49864	0.0:0.7947:0.0:0.2053	.	532	Q6IV72	ZN425_HUMAN	S	532	ENSP00000367300:G532S	ENSP00000367300:G532S	G	-	1	0	ZNF425	148432302	0.000000	0.05858	0.015000	0.15790	0.114000	0.19823	-0.148000	0.10219	-1.040000	0.03271	-0.768000	0.03414	GGC		0.627	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1	XM_088140		T	148801369	C	T	148801369	3	4	777	1	0	0	0	0	1	0	0	0	17904	652	23	1	668	1	ZNF425	7	148801369	Missense_Mutation	SNP	C	TCGA-P4-AAVL-01A-11D-A42J-10	16936858	148801369	10337294	30	45924											
SSPO	23145	hgsc.bcm.edu	37	7	149518600	149518600	+	RNA	SNP	C	C	T			TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chr7:149518600C>T	ENST00000378016.2	+	0	12669							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)			GCTCCCGCACCCTGGGGGACA	0.721																																																0													4	5	5					7																	149518600		1851	3972	5823			23145			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		chr7.hg19:g.149518600C>T			Q76B61	Silent	SNP	ENST00000378016.2	hg19																																																																																					0.721	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				T	149518600	C	T	149518600	1	4	777	0	1	0	0	0	0	0	0	0	15194	610	22	2		2	SSPO	7	149518600	RNA	SNP	C	TCGA-P4-AAVL-01A-11D-A42J-10	717231	149518600	9620063	31	45925											
GPR124	25960	hgsc.bcm.edu	37	8	37693093	37693093	+	Missense_Mutation	SNP	A	A	G	rs377757244		TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chr8:37693093A>G	ENST00000412232.2	+	13	1868	c.1855A>G	c.(1855-1857)Atc>Gtc	p.I619V	GPR124_ENST00000315215.7_Intron	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	619					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)			CCTGGCCTCCATCCAGCTGCC	0.652																																																0								A	VAL/ILE	0,4406		0,0,2203	72	87	82		1855	5.2	1	8		82	1,8599	1.2+/-3.3	0,1,4299	no	missense	GPR124	NM_032777.9	29	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	619/1339	37693093	1,13005	2203	4300	6503	SO:0001583	missense	25960			AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17849	protein-coding gene	gene with protein product	"tumor endothelial marker 5"	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.1855A>G	chr8.hg19:g.37693093A>G	ENSP00000406367:p.Ile619Val		A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	ENST00000412232.2	hg19	CCDS6097.2	.	.	.	.	.	.	.	.	.	.	A	12.56	1.973999	0.34848	0.0	1.16E-4	ENSG00000020181	ENST00000416514;ENST00000412232	T	0.57907	0.37	5.16	5.16	0.70880	.	0.073105	0.56097	D	0.000031	T	0.35508	0.0934	N	0.12961	0.28	0.45118	D	0.998131	B	0.24963	0.115	B	0.15870	0.014	T	0.14144	-1.0483	10	0.30854	T	0.27	-23.7224	14.9878	0.71362	1.0:0.0:0.0:0.0	.	619	Q96PE1	GP124_HUMAN	V	612;619	ENSP00000406367:I619V	ENSP00000406367:I619V	I	+	1	0	GPR124	37812251	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.170000	0.50816	1.965000	0.57142	0.459000	0.35465	ATC		0.652	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			G	37693093	A	G	37693093	3	3	777	1	0	0	0	0	1	0	0	0	6640	217	8	3	1884	3	GPR124	8	37693093	Missense_Mutation	SNP	A	TCGA-P4-AAVL-01A-11D-A42J-10		37693093	108670929	32	45926											
NOL6	65083	hgsc.bcm.edu	37	9	33467705	33467705	+	Missense_Mutation	SNP	C	C	T	rs546933819		TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chr9:33467705C>T	ENST00000379471.2	-	12	1673	c.1586G>A	c.(1585-1587)cGa>cAa	p.R529Q	NOL6_ENST00000455041.2_Missense_Mutation_p.R477Q|NOL6_ENST00000464829.1_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	529					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)		GACTGGGGGTCGAGAGTGAGC	0.617																																																0													28	30	29					9																	33467705		2203	4300	6503	SO:0001583	missense	65083			AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"nucleolar protein family 6 (RNA-associated)"			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.1586G>A	chr9.hg19:g.33467705C>T	ENSP00000368784:p.Arg529Gln		Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Missense_Mutation	SNP	ENST00000379471.2	hg19		.	.	.	.	.	.	.	.	.	.	C	7.723	0.697590	0.15106	.	.	ENSG00000165271	ENST00000353159;ENST00000297990;ENST00000379471;ENST00000541373;ENST00000325914;ENST00000455041	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.22	5.22	0.72569	.	0.374443	0.27298	N	0.020004	T	0.32041	0.0816	L	0.58101	1.795	0.34379	D	0.692933	P;P;P;P;P	0.39044	0.646;0.594;0.594;0.656;0.646	B;B;B;B;B	0.30943	0.087;0.052;0.052;0.122;0.087	T	0.39121	-0.9629	10	0.11794	T	0.64	.	11.3263	0.49450	0.2257:0.7743:0.0:0.0	.	477;526;529;529;529	B4DF80;Q9H6R4-4;Q9H6R4-2;Q9H6R4-3;Q9H6R4	.;.;.;.;NOL6_HUMAN	Q	529;529;529;85;529;477	ENSP00000313978:R529Q;ENSP00000297990:R529Q;ENSP00000368784:R529Q;ENSP00000395915:R477Q	ENSP00000297990:R529Q	R	-	2	0	NOL6	33457705	1.000000	0.71417	1.000000	0.80357	0.249000	0.25844	1.842000	0.39250	2.720000	0.93068	0.655000	0.94253	CGA		0.617	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	protein_coding	OTTHUMT00000001019.2	NM_022917		T	33467705	C	T	33467705	3	4	777	1	0	0	0	0	1	0	0	0	10527	884	31	1	1914	1	NOL6	9	33467705	Missense_Mutation	SNP	C	TCGA-P4-AAVL-01A-11D-A42J-10		33467705	107745726	33	45927											
PRKACG	5568	hgsc.bcm.edu	37	9	71628443	71628443	+	Missense_Mutation	SNP	G	G	A			TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chr9:71628443G>A	ENST00000377276.2	-	1	596	c.566C>T	c.(565-567)gCc>gTc	p.A189V		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	189	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						CACGCGCTTGGCGAAACCGAA	0.617																																					Esophageal Squamous(110;2236 2623 32146)											0													45	45	45					9																	71628443		2203	4300	6503	SO:0001583	missense	5568			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.566C>T	chr9.hg19:g.71628443G>A	ENSP00000366488:p.Ala189Val		O60850|Q5VZ02|Q86YI1	Missense_Mutation	SNP	ENST00000377276.2	hg19	CCDS6625.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.565223	0.65651	.	.	ENSG00000165059	ENST00000377276	T	0.75821	-0.97	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	0.30859	U	0.008721	T	0.75925	0.3916	L	0.56124	1.755	0.33063	D	0.534337	D	0.61697	0.99	P	0.57776	0.827	T	0.79082	-0.1949	10	0.87932	D	0	.	7.4815	0.27408	0.0:0.0:1.0:0.0	.	189	P22612	KAPCG_HUMAN	V	189	ENSP00000366488:A189V	ENSP00000366488:A189V	A	-	2	0	PRKACG	70818263	1.000000	0.71417	0.025000	0.17156	0.026000	0.11368	2.854000	0.48325	0.458000	0.26988	0.467000	0.42956	GCC		0.617	PRKACG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052559.1			A	71628443	G	A	71628443	3	1	777	1	0	0	0	0	1	0	0	0	12504	1203	42	2	493	2	PRKACG	9	71628443	Missense_Mutation	SNP	G	TCGA-P4-AAVL-01A-11D-A42J-10	38160738	71628443	69584988	34	45928											
RALGDS	5900	hgsc.bcm.edu	37	9	135975749	135975749	+	Silent	SNP	A	A	C			TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chr9:135975749A>C	ENST00000372050.3	-	17	2496	c.2475T>G	c.(2473-2475)gcT>gcG	p.A825A	RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000542690.1_Silent_p.A896A|RALGDS_ENST00000372047.3_Silent_p.A813A|RALGDS_ENST00000393160.3_Silent_p.A770A|RALGDS_ENST00000393157.3_Silent_p.A824A|RALGDS_ENST00000372062.3_Silent_p.A796A	NM_006266.2	NP_006257.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	825	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				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)		TTACAGCCGGAGCCTTATCTT	0.597			T	CIITA	"PMBL, Hodgkin Lymphona, "																																Melanoma(189;762 2088 15384 21931 52515)		Dom	yes		9	9q34.3	5900	ral guanine nucleotide dissociation stimulator		L	0													145	138	140					9																	135975749		2203	4300	6503	SO:0001819	synonymous_variant	5900			AB037729	CCDS6959.1, CCDS43897.1, CCDS65172.1, CCDS65173.1, CCDS65174.1	9q34.3	2009-04-08			ENSG00000160271	ENSG00000160271			9842	protein-coding gene	gene with protein product		601619				7972015	Standard	NM_006266		Approved	RGF, RalGEF, RGDS	uc004ccr.3	Q12967	OTTHUMG00000020858	ENST00000372050.3:c.2475T>G	chr9.hg19:g.135975749A>C			B7Z753|E7ER93|E7ERZ0|Q5T7V4|Q6KH11|Q6PCE1|Q6ZSD5|Q9HAX7|Q9HAY1|Q9HCT1|Q9P2N8	Silent	SNP	ENST00000372050.3	hg19	CCDS6959.1																																																																																				0.597	RALGDS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054837.1	NM_006266		C	135975749	A	C	135975749	2	2	777	1	0	0	0	0	0	0	0	1	13022	291	11	5		5	RALGDS	9	135975749	Silent	SNP	A	TCGA-P4-AAVL-01A-11D-A42J-10	64347306	135975749	5237682	35	45929											
OPTN	10133	hgsc.bcm.edu	37	10	13167963	13167963	+	Missense_Mutation	SNP	T	T	A			TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chr10:13167963T>A	ENST00000378748.3	+	12	1528	c.1166T>A	c.(1165-1167)cTa>cAa	p.L389Q	OPTN_ENST00000378752.3_Missense_Mutation_p.L383Q|OPTN_ENST00000263036.5_Missense_Mutation_p.L389Q|OPTN_ENST00000378747.3_Missense_Mutation_p.L389Q|OPTN_ENST00000378757.2_Missense_Mutation_p.L389Q|OPTN_ENST00000378764.2_Missense_Mutation_p.L383Q	NM_001008211.1|NM_001008213.1	NP_001008212|NP_001008214	Q96CV9	OPTN_HUMAN	optineurin	389					cell death (GO:0008219)|defense response to Gram-negative bacterium (GO:0050829)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi organization (GO:0007030)|Golgi ribbon formation (GO:0090161)|Golgi to plasma membrane protein transport (GO:0043001)|macroautophagy (GO:0016236)|mitotic cell cycle (GO:0000278)|negative regulation of receptor recycling (GO:0001920)|protein targeting to Golgi (GO:0000042)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	polyubiquitin binding (GO:0031593)|protein C-terminus binding (GO:0008022)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						TTAACTGTGCTACAGATGACA	0.323																																																0													74	72	73					10																	13167963		2203	4299	6502	SO:0001583	missense	10133			AF420371	CCDS7094.1	10p14	2014-01-28	2003-09-08		ENSG00000123240	ENSG00000123240			17142	protein-coding gene	gene with protein product		602432	"glaucoma 1, open angle, E (adult-onset)"	GLC1E		11834836, 9488477	Standard	NM_001008211		Approved	FIP2, HYPL, FIP-2, TFIIIA-INTP, NRP, HIP7	uc001ilx.1	Q96CV9	OTTHUMG00000017690	ENST00000378748.3:c.1166T>A	chr10.hg19:g.13167963T>A	ENSP00000368022:p.Leu389Gln		B3KP00|D3DRS4|D3DRS8|Q5T672|Q5T673|Q5T674|Q5T675|Q7LDL9|Q8N562|Q9UET9|Q9UEV4|Q9Y218	Missense_Mutation	SNP	ENST00000378748.3	hg19	CCDS7094.1	.	.	.	.	.	.	.	.	.	.	T	12.79	2.042827	0.36085	.	.	ENSG00000123240	ENST00000263036;ENST00000378764;ENST00000378757;ENST00000378752;ENST00000378748;ENST00000378747	D;D;D;D;D;D	0.93604	-3.25;-3.23;-3.25;-3.23;-3.25;-3.25	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.96340	0.8806	M	0.79123	2.44	0.36206	D	0.851028	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99620	1.0983	10	0.87932	D	0	-7.3191	13.5457	0.61702	0.0:0.0:0.0:1.0	.	383;389	Q96CV9-2;Q96CV9	.;OPTN_HUMAN	Q	389;383;389;383;389;389	ENSP00000263036:L389Q;ENSP00000368040:L383Q;ENSP00000368032:L389Q;ENSP00000368027:L383Q;ENSP00000368022:L389Q;ENSP00000368021:L389Q	ENSP00000263036:L389Q	L	+	2	0	OPTN	13207969	0.887000	0.30362	0.150000	0.22450	0.037000	0.13140	4.685000	0.61693	2.239000	0.73571	0.528000	0.53228	CTA		0.323	OPTN-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046834.1	NM_021980		A	13167963	T	A	13167963	3	1	777	1	0	0	0	0	1	0	0	0	10891	1522	53	5	1200	5	OPTN	10	13167963	Missense_Mutation	SNP	T	TCGA-P4-AAVL-01A-11D-A42J-10		13167963	122366784	36	45930											
CUBN	8029	hgsc.bcm.edu	37	10	17113553	17113554	+	Frame_Shift_Ins	INS	-	-	A			TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chr10:17113553_17113554insA	ENST00000377833.4	-	19	2561_2562	c.2496_2497insT	c.(2494-2499)tttcctfs	p.P833fs		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	833	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)	p.P833S(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TACACGTTAGGAAAAAAAGGCG	0.416																																																1	Substitution - Missense(1)	lung(1)																																								SO:0001589	frameshift_variant	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.2497dupT	chr10.hg19:g.17113560_17113560dupA	ENSP00000367064:p.Pro833fs		B0YIZ4|Q5VTA6|Q96RU9	Frame_Shift_Ins	INS	ENST00000377833.4	hg19	CCDS7113.1																																																																																				0.416	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		A	17113554	-	A	17113553	7	5	777	1	0	1	1	0	0	0	0	0	4053	1174	41	0	8570	0	CUBN	10	17113553	Frame_Shift_Ins	INS	-	TCGA-P4-AAVL-01A-11D-A42J-10	3945590	17113553	118421194	37	45931											
JMJD1C	221037	hgsc.bcm.edu	37	10	64957243	64957243	+	Missense_Mutation	SNP	A	A	G			TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chr10:64957243A>G	ENST00000399262.2	-	13	5790	c.5572T>C	c.(5572-5574)Tgg>Cgg	p.W1858R	JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000402544.1_Missense_Mutation_p.W1639R|JMJD1C_ENST00000542921.1_Missense_Mutation_p.W1676R	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1858					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)					TGGCAGACCCAGTGAATGTTA	0.388																																																0													134	125	128					10																	64957243		1918	4150	6068	SO:0001583	missense	221037			L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"thyroid hormone receptor interactor 8"	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.5572T>C	chr10.hg19:g.64957243A>G	ENSP00000382204:p.Trp1858Arg		A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	hg19	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.667939	0.88348	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000542921	D;T;T	0.89050	-2.46;-0.49;-0.2	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.95465	0.8527	M	0.89534	3.04	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	0.96187	0.9135	10	0.72032	D	0.01	-4.2633	16.1819	0.81915	1.0:0.0:0.0:0.0	.	1399;1858;1676	A6PW35;Q15652;A0T124	.;JHD2C_HUMAN;.	R	1858;1639;1676	ENSP00000382204:W1858R;ENSP00000384990:W1639R;ENSP00000444682:W1676R	ENSP00000382204:W1858R	W	-	1	0	JMJD1C	64627249	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	9.255000	0.95524	2.279000	0.76181	0.533000	0.62120	TGG		0.388	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		G	64957243	A	G	64957243	3	3	777	1	0	0	0	0	1	0	0	0	7952	188	7	3	2106	3	JMJD1C	10	64957243	Missense_Mutation	SNP	A	TCGA-P4-AAVL-01A-11D-A42J-10	47843690	64957243	70577504	38	45932											
CDH23	64072	hgsc.bcm.edu	37	10	73567274	73567274	+	Splice_Site	SNP	C	C	G			TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chr10:73567274C>G	ENST00000224721.6	+	58	8330	c.8325C>G	c.(8323-8325)gcC>gcG	p.A2775A	CDH23_ENST00000398788.3_Splice_Site_p.A530A|CDH23_ENST00000475158.1_3'UTR	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2770	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)	p.A2775A(1)		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						CACCCTCAGCCGGCAACGAAG	0.607																																																1	Substitution - coding silent(1)	large_intestine(1)											34	40	38					10																	73567274		2081	4204	6285	SO:0001630	splice_region_variant	64072			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.8324-1C>G	chr10.hg19:g.73567274C>G			C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Silent	SNP	ENST00000224721.6	hg19																																																																																					0.607	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836	Silent	G	73567274	C	G	73567274	5	3	777	1	0	0	0	0	0	0	1	0	3110	666	23	4	8885	4	CDH23	10	73567274	Splice_Site	SNP	C	TCGA-P4-AAVL-01A-11D-A42J-10	8610031	73567274	61967473	39	45933											
ECD	11319	hgsc.bcm.edu	37	10	74899240	74899240	+	Silent	SNP	T	T	C			TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chr10:74899240T>C	ENST00000372979.4	-	11	1454	c.1248A>G	c.(1246-1248)ttA>ttG	p.L416L	ECD_ENST00000454759.2_Silent_p.L373L|ECD_ENST00000430082.2_Silent_p.L449L	NM_007265.2	NP_009196.1	O95905	SGT1_HUMAN	ecdysoneless homolog (Drosophila)	416					cell proliferation (GO:0008283)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of glycolytic process (GO:0006110)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(51;0.0119)					GTGAGAGATCTAACCACTGGT	0.443																																																0													83	86	85					10																	74899240		2203	4300	6503	SO:0001819	synonymous_variant	11319			BC000721	CCDS7321.1, CCDS44433.1, CCDS44434.1	10q22.3	2006-02-07				ENSG00000122882			17029	protein-coding gene	gene with protein product						9928932, 15128659	Standard	NM_007265		Approved	hSGT1, GCR2	uc001jtn.3	O95905		ENST00000372979.4:c.1248A>G	chr10.hg19:g.74899240T>C			C9JX46|E9PAW8	Silent	SNP	ENST00000372979.4	hg19	CCDS7321.1																																																																																				0.443	ECD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048606.1	NM_007265		C	74899240	T	C	74899240	2	2	777	1	0	0	0	0	0	0	0	1	4890	1519	53	3		3	ECD	10	74899240	Silent	SNP	T	TCGA-P4-AAVL-01A-11D-A42J-10	1331966	74899240	60635507	40	45934											
MUC2	4583	hgsc.bcm.edu	37	11	1093437	1093437	+	Silent	SNP	G	G	C			TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chr11:1093437G>C	ENST00000441003.2	+	30	5283	c.5256G>C	c.(5254-5256)acG>acC	p.T1752T	MUC2_ENST00000333592.6_Silent_p.T40T|MUC2_ENST00000359061.5_Silent_p.T1719T|MUC2_ENST00000361558.6_Intron	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0					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)		p.T1752T(1)|p.T1719T(1)		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)	ccaccaccacggtgaccccaa	0.632																																																2	Substitution - coding silent(2)	kidney(2)											180	207	198					11																	1093437		2046	4038	6084	SO:0001819	synonymous_variant	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.5256G>C	chr11.hg19:g.1093437G>C			Q14878	Silent	SNP	ENST00000441003.2	hg19																																																																																					0.632	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		C	1093437	G	C	1093437	2	2	777	1	0	0	0	0	0	0	0	1	9977	1103	39	4		4	MUC2	11	1093437	Silent	SNP	G	TCGA-P4-AAVL-01A-11D-A42J-10		1093437	133913079	41	45935											
NUP160	23279	hgsc.bcm.edu	37	11	47869930	47869930	+	Missense_Mutation	SNP	C	C	T			TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chr11:47869930C>T	ENST00000378460.2	-	1	89	c.43G>A	c.(43-45)Gtg>Atg	p.V15M	NUP160_ENST00000526870.1_Missense_Mutation_p.V15M|NUP160_ENST00000530326.1_5'Flank|NUP160_ENST00000532747.1_5'Flank	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	15					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)|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)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						GTCGCCGTCACTTCCGGGGGT	0.706																																																0													8	10	9					11																	47869930		2114	4175	6289	SO:0001583	missense	23279			D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"nucleoporin 160kD"			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.43G>A	chr11.hg19:g.47869930C>T	ENSP00000367721:p.Val15Met		B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Missense_Mutation	SNP	ENST00000378460.2	hg19	CCDS31484.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.269963	0.59540	.	.	ENSG00000030066	ENST00000378460;ENST00000526870	T;T	0.55930	1.37;0.49	4.85	4.85	0.62838	.	0.863746	0.09405	N	0.806618	T	0.55033	0.1895	N	0.08118	0	0.27571	N	0.949872	D;P	0.71674	0.998;0.94	D;P	0.68353	0.957;0.462	T	0.57648	-0.7775	10	0.48119	T	0.1	.	15.2321	0.73398	0.0:1.0:0.0:0.0	.	15;15	Q12769-2;Q12769	.;NU160_HUMAN	M	15	ENSP00000367721:V15M;ENSP00000431495:V15M	ENSP00000367721:V15M	V	-	1	0	NUP160	47826506	1.000000	0.71417	0.999000	0.59377	0.156000	0.22039	1.572000	0.36461	2.404000	0.81709	0.491000	0.48974	GTG		0.706	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390239.2	NM_015231		T	47869930	C	T	47869930	3	4	777	1	0	0	0	0	1	0	0	0	10759	565	20	2	4411	2	NUP160	11	47869930	Missense_Mutation	SNP	C	TCGA-P4-AAVL-01A-11D-A42J-10	46776493	47869930	87136586	42	45936											
ZBTB3	79842	hgsc.bcm.edu	37	11	62520283	62520283	+	Missense_Mutation	SNP	A	A	T			TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chr11:62520283A>T	ENST00000394807.3	-	2	1129	c.1004T>A	c.(1003-1005)gTc>gAc	p.V335D		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	335	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						tggagctgagacaggggctgg	0.577																																																0													42	41	41					11																	62520283		2202	4296	6498	SO:0001583	missense	79842			AK027045	CCDS8034.1	11q12.3	2013-01-09				ENSG00000185670		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	22918	protein-coding gene	gene with protein product							Standard	NM_024784		Approved	FLJ23392	uc001nuz.3	Q9H5J0		ENST00000394807.3:c.1004T>A	chr11.hg19:g.62520283A>T	ENSP00000378286:p.Val335Asp			Missense_Mutation	SNP	ENST00000394807.3	hg19	CCDS8034.1	.	.	.	.	.	.	.	.	.	.	A	0.331	-0.955916	0.02267	.	.	ENSG00000185670	ENST00000394807	T	0.11385	2.78	2.63	-3.45	0.04781	.	1.305960	0.05604	U	0.576827	T	0.05181	0.0138	N	0.14661	0.345	0.09310	N	0.999999	B	0.18968	0.032	B	0.20955	0.032	T	0.42275	-0.9461	10	0.12430	T	0.62	.	4.4604	0.11663	0.4401:0.1782:0.3817:0.0	.	335	Q9H5J0	ZBTB3_HUMAN	D	335	ENSP00000378286:V335D	ENSP00000378286:V335D	V	-	2	0	ZBTB3	62276859	0.000000	0.05858	0.027000	0.17364	0.061000	0.15899	-0.163000	0.09997	-0.972000	0.03559	0.459000	0.35465	GTC		0.577	ZBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395342.1	NM_024784		T	62520283	A	T	62520283	3	4	777	1	0	0	0	0	1	0	0	0	17539	275	10	5	724	5	ZBTB3	11	62520283	Missense_Mutation	SNP	A	TCGA-P4-AAVL-01A-11D-A42J-10	14650353	62520283	72486233	43	45937											
SLC4A8	9498	hgsc.bcm.edu	37	12	51853759	51853759	+	Missense_Mutation	SNP	A	A	G			TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chr12:51853759A>G	ENST00000453097.2	+	8	1097	c.880A>G	c.(880-882)Att>Gtt	p.I294V	SLC4A8_ENST00000514353.3_Missense_Mutation_p.I241V|SLC4A8_ENST00000358657.3_Missense_Mutation_p.I321V|SLC4A8_ENST00000535225.2_Missense_Mutation_p.I241V|SLC4A8_ENST00000394856.1_Missense_Mutation_p.I241V	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)		CATGAAAAAAATTCCTACTGG	0.418																																																0													132	138	136					12																	51853759		2203	4300	6503	SO:0001583	missense	9498			AB018282	CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1	12q13.13	2013-05-22			ENSG00000050438	ENSG00000050438		"Solute carriers"	11034	protein-coding gene	gene with protein product		605024				11133997	Standard	NM_001039960		Approved	NBC3	uc001rys.2	Q2Y0W8	OTTHUMG00000169489	ENST00000453097.2:c.880A>G	chr12.hg19:g.51853759A>G	ENSP00000405812:p.Ile294Val			Missense_Mutation	SNP	ENST00000453097.2	hg19	CCDS44890.1	.	.	.	.	.	.	.	.	.	.	A	17.71	3.456390	0.63401	.	.	ENSG00000050438	ENST00000535225;ENST00000358657;ENST00000453097;ENST00000394856;ENST00000319957;ENST00000514353;ENST00000547697;ENST00000551071	T;T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43;-0.43	5.53	5.53	0.82687	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.000000	0.85682	D	0.000000	D	0.83092	0.5179	M	0.85542	2.76	0.80722	D	1	D;B;B;B;B;B;B	0.53151	0.958;0.04;0.018;0.001;0.004;0.002;0.033	D;B;B;B;B;B;B	0.70716	0.97;0.073;0.028;0.077;0.072;0.073;0.036	D	0.85916	0.1443	10	0.87932	D	0	.	14.9425	0.71006	1.0:0.0:0.0:0.0	.	241;321;241;294;294;294;241	E7EML0;Q2Y0W8-2;F5GZ31;Q2Y0W8;Q2Y0W8-3;Q2Y0W8-6;F8VSA8	.;.;.;S4A8_HUMAN;.;.;.	V	241;321;294;241;294;241;241;241	ENSP00000441520:I241V;ENSP00000351483:I321V;ENSP00000405812:I294V;ENSP00000378325:I241V;ENSP00000442561:I241V	ENSP00000315789:I294V	I	+	1	0	SLC4A8	50140026	1.000000	0.71417	0.995000	0.50966	0.865000	0.49528	9.283000	0.95860	2.236000	0.73375	0.482000	0.46254	ATT		0.418	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404356.1	NM_004858		G	51853759	A	G	51853759	3	3	777	1	0	0	0	0	1	0	0	0	14665	101	4	3	910	3	SLC4A8	12	51853759	Missense_Mutation	SNP	A	TCGA-P4-AAVL-01A-11D-A42J-10		51853759	81998136	44	45938											
USP15	9958	hgsc.bcm.edu	37	12	62777661	62777667	+	Frame_Shift_Del	DEL	AGCAGCA	AGCAGCA	-	rs112510834		TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	AGCAGCA	AGCAGCA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chr12:62777661_62777667delAGCAGCA	ENST00000280377.5	+	10	1188_1194	c.1130_1136delAGCAGCA	c.(1129-1137)cagcagcaafs	p.QQQ377fs	USP15_ENST00000393654.3_Frame_Shift_Del_p.QQQ352fs|USP15_ENST00000353364.3_Frame_Shift_Del_p.QQQ348fs	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	377	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)		TCTGGATATCAGCAGCAAGACTGTCAA	0.353																																					Melanoma(181;615 2041 39364 49691 50001)											0																																										SO:0001589	frameshift_variant	9958			AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"Ubiquitin-specific peptidases"	12613	protein-coding gene	gene with protein product		604731	"ubiquitin specific protease 15"			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.1130_1136delAGCAGCA	chr12.hg19:g.62777661_62777667delAGCAGCA	ENSP00000280377:p.Gln377fs		Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Frame_Shift_Del	DEL	ENST00000280377.5	hg19	CCDS58251.1																																																																																				0.353	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313		-	62777667	AGCAGCA	-	62777661	7	5	777	1	0	1	0	1	0	0	0	0	17051	188	7	0	1077	0	USP15	12	62777661	Frame_Shift_Del	DEL	AGCAGCA	TCGA-P4-AAVL-01A-11D-A42J-10	10923902	62777661	71074234	45	45939											
ANKS1B	56899	hgsc.bcm.edu	37	12	99837527	99837527	+	Missense_Mutation	SNP	G	G	A			TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chr12:99837527G>A	ENST00000547776.2	-	11	1498	c.1499C>T	c.(1498-1500)aCa>aTa	p.T500I	ANKS1B_ENST00000329257.7_Missense_Mutation_p.T500I|ANKS1B_ENST00000547010.1_Missense_Mutation_p.T80I	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	500						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TGTTGGGCCTGTTGAGCTGTT	0.433																																																0													203	196	198					12																	99837527		1901	4130	6031	SO:0001583	missense	56899			AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.1499C>T	chr12.hg19:g.99837527G>A	ENSP00000449629:p.Thr500Ile		A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	SNP	ENST00000547776.2	hg19	CCDS55872.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.428944	0.83667	.	.	ENSG00000185046	ENST00000547776;ENST00000547010;ENST00000329257;ENST00000538702;ENST00000549866	T;T;T;T	0.69175	0.59;-0.38;0.59;0.42	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.76557	0.4004	L	0.40543	1.245	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.998	D;D;D	0.85130	0.997;0.996;0.987	T	0.72520	-0.4268	9	.	.	.	-11.037	18.7754	0.91910	0.0:0.0:1.0:0.0	.	466;80;500	F8VVQ4;Q7Z6G8-6;Q7Z6G8	.;.;ANS1B_HUMAN	I	500;80;500;79;466	ENSP00000449629:T500I;ENSP00000448512:T80I;ENSP00000331381:T500I;ENSP00000449894:T466I	.	T	-	2	0	ANKS1B	98361658	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	8.328000	0.90014	2.873000	0.98535	0.563000	0.77884	ACA		0.433	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140		A	99837527	G	A	99837527	3	1	777	1	0	0	0	0	1	0	0	0	689	1377	48	2	2599	2	ANKS1B	12	99837527	Missense_Mutation	SNP	G	TCGA-P4-AAVL-01A-11D-A42J-10	37059866	99837527	34014368	46	45940											
POLE	5426	hgsc.bcm.edu	37	12	133219525	133219525	+	Missense_Mutation	SNP	G	G	A			TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chr12:133219525G>A	ENST00000320574.5	-	36	4652	c.4609C>T	c.(4609-4611)Ctc>Ttc	p.L1537F	POLE_ENST00000434528.3_5'Flank|POLE_ENST00000535270.1_Missense_Mutation_p.L1510F	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1537					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)	TTCTCCAGGAGGAGGCCGTGC	0.642								DNA polymerases (catalytic subunits)																																								0													60	58	59					12																	133219525		2203	4300	6503	SO:0001583	missense	5426				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.4609C>T	chr12.hg19:g.133219525G>A	ENSP00000322570:p.Leu1537Phe		Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	hg19	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	G	5.595	0.294522	0.10567	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270	T;T;T	0.24151	1.87;1.87;1.87	5.82	2.89	0.33648	DNA polymerase epsilon, catalytic subunit A, C-terminal (1);	0.063724	0.64402	D	0.000004	T	0.28234	0.0697	M	0.81112	2.525	0.49915	D	0.999831	B	0.30179	0.271	B	0.33121	0.158	T	0.03086	-1.1074	10	0.27785	T	0.31	.	5.8191	0.18518	0.1349:0.0:0.4872:0.3779	.	1537	Q07864	DPOE1_HUMAN	F	1537;1548;1510	ENSP00000322570:L1537F;ENSP00000406383:L1548F;ENSP00000445753:L1510F	ENSP00000322570:L1537F	L	-	1	0	POLE	131729598	0.997000	0.39634	0.986000	0.45419	0.071000	0.16799	2.540000	0.45727	0.322000	0.23283	-1.087000	0.02190	CTC		0.642	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		A	133219525	G	A	133219525	3	1	777	1	0	0	0	0	1	0	0	0	12198	1000	35	2	2307	2	POLE	12	133219525	Missense_Mutation	SNP	G	TCGA-P4-AAVL-01A-11D-A42J-10	33381998	133219525	632370	47	45941											
SACS	26278	hgsc.bcm.edu	37	13	23909168	23909168	+	Silent	SNP	A	A	G			TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chr13:23909168A>G	ENST00000382292.3	-	9	9120	c.8847T>C	c.(8845-8847)atT>atC	p.I2949I	SACS_ENST00000382298.3_Silent_p.I2949I|SACS_ENST00000402364.1_Silent_p.I2199I			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2949					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)		TTACAACATGAATAGGGGTGT	0.348																																																0													100	101	101					13																	23909168		2203	4300	6503	SO:0001819	synonymous_variant	26278			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.8847T>C	chr13.hg19:g.23909168A>G			O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Silent	SNP	ENST00000382292.3	hg19	CCDS9300.2																																																																																				0.348	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		G	23909168	A	G	23909168	2	3	777	1	0	0	0	0	0	0	0	1	13810	242	9	3		3	SACS	13	23909168	Silent	SNP	A	TCGA-P4-AAVL-01A-11D-A42J-10		23909168	91260710	48	45942											
CDK8	1024	hgsc.bcm.edu	37	13	26975672	26975672	+	Missense_Mutation	SNP	A	A	T			TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chr13:26975672A>T	ENST00000381527.3	+	12	1683	c.1180A>T	c.(1180-1182)Agt>Tgt	p.S394C	CDK8_ENST00000536792.1_3'UTR|CDK8_ENST00000480323.1_3'UTR	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	394					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)		TCAAGACAGCAGTCACACACA	0.483																																																0													100	93	96					13																	26975672		2203	4300	6503	SO:0001583	missense	1024			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.1180A>T	chr13.hg19:g.26975672A>T	ENSP00000370938:p.Ser394Cys		Q5VUF3|Q6ISB5	Missense_Mutation	SNP	ENST00000381527.3	hg19	CCDS9317.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.210803	0.79240	.	.	ENSG00000132964	ENST00000381527	T	0.69806	-0.43	5.58	1.92	0.25849	.	0.070976	0.85682	D	0.000000	T	0.68550	0.3013	L	0.51422	1.61	0.80722	D	1	D;D	0.56968	0.978;0.97	P;P	0.56514	0.8;0.711	T	0.66728	-0.5850	10	0.54805	T	0.06	-1.6909	8.8309	0.35082	0.7859:0.0:0.2141:0.0	.	393;394	P49336-2;P49336	.;CDK8_HUMAN	C	394	ENSP00000370938:S394C	ENSP00000370938:S394C	S	+	1	0	CDK8	25873672	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.426000	0.44731	0.418000	0.25898	0.533000	0.62120	AGT		0.483	CDK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044250.1			T	26975672	A	T	26975672	3	4	777	1	0	0	0	0	1	0	0	0	3152	188	7	5	1226	5	CDK8	13	26975672	Missense_Mutation	SNP	A	TCGA-P4-AAVL-01A-11D-A42J-10	3066504	26975672	88194206	49	45943											
FLJ10357	55701	hgsc.bcm.edu	37	14	21543506	21543506	+	Frame_Shift_Del	DEL	A	A	-			TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chr14:21543506delA	ENST00000298694.4	+	4	1593	c.1466delA	c.(1465-1467)gaafs	p.E489fs	ARHGEF40_ENST00000298693.3_Frame_Shift_Del_p.E489fs			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	489						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						ACAGGCCCAGAAGGCCCCCTG	0.552																																																0													117	121	120					14																	21543506		2203	4300	6503	SO:0001589	frameshift_variant	55701				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.1466delA	chr14.hg19:g.21543506delA	ENSP00000298694:p.Glu489fs		A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	Frame_Shift_Del	DEL	ENST00000298694.4	hg19	CCDS32041.1																																																																																				0.552	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413122.1			-	21543506	A	-	21543506	7	5	777	1	0	1	0	1	0	0	0	0	5928	246	9	0	1480	0	FLJ10357	14	21543506	Frame_Shift_Del	DEL	A	TCGA-P4-AAVL-01A-11D-A42J-10		21543506	85806034	50	45944	492	2									
FLJ10357	55701	hgsc.bcm.edu	37	14	21543510	21543510	+	Silent	SNP	C	C	G			TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chr14:21543510C>G	ENST00000298694.4	+	4	1597	c.1470C>G	c.(1468-1470)ggC>ggG	p.G490G	ARHGEF40_ENST00000298693.3_Silent_p.G490G			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	490						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						GCCCAGAAGGCCCCCTGTCTG	0.557																																																0													119	122	121					14																	21543510		2203	4300	6503	SO:0001819	synonymous_variant	55701				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.1470C>G	chr14.hg19:g.21543510C>G			A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	Silent	SNP	ENST00000298694.4	hg19	CCDS32041.1																																																																																				0.557	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413122.1			G	21543510	C	G	21543510	2	3	777	1	0	0	0	0	0	0	0	1	5928	726	26	4		4	FLJ10357	14	21543510	Silent	SNP	C	TCGA-P4-AAVL-01A-11D-A42J-10	4	21543510	85806030	51	45945	492	2									
PPP2R3C	55012	hgsc.bcm.edu	37	14	35579746	35579746	+	Silent	SNP	A	A	G	rs201403377		TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chr14:35579746A>G	ENST00000261475.5	-	3	629	c.276T>C	c.(274-276)gaT>gaC	p.D92D	PPP2R3C_ENST00000555644.1_Silent_p.D92D	NM_017917.2	NP_060387.2	Q969Q6	P2R3C_HUMAN	protein phosphatase 2, regulatory subunit B'', gamma	92					activation of protein kinase activity (GO:0032147)|B cell homeostasis (GO:0001782)|positive regulation of B cell differentiation (GO:0045579)|regulation of antimicrobial humoral response (GO:0002759)|regulation of mitochondrial depolarization (GO:0051900)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)	15	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491)	GBM - Glioblastoma multiforme(112;0.0803)		ATTCTTCATTATCTAACAGTT	0.348																																																0													199	184	189					14																	35579746		2203	4299	6502	SO:0001819	synonymous_variant	55012			AK000651	CCDS9654.1	14q13.2	2010-06-18	2010-06-18	2007-01-22	ENSG00000092020	ENSG00000092020		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	17485	protein-coding gene	gene with protein product		615902	"chromosome 14 open reading frame 10", "protein phosphatase 2 (formerly 2A), regulatory subunit B'', gamma"	C14orf10		12167160, 16129705	Standard	NM_017917		Approved	FLJ20644, G4-1, G5PR	uc001wss.3	Q969Q6	OTTHUMG00000140224	ENST00000261475.5:c.276T>C	chr14.hg19:g.35579746A>G			B4DEN7|D3DS97|D3DS98|Q5GJ55|Q5GJ56|Q6P4G2|Q86TZ3|Q9NWR9	Silent	SNP	ENST00000261475.5	hg19	CCDS9654.1	.	.	.	.	.	.	.	.	.	.	A	8.279	0.815077	0.16607	.	.	ENSG00000092020	ENST00000555614	.	.	.	5.8	4.65	0.58169	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.4249	8.5736	0.33585	0.7983:0.0:0.2017:0.0	.	.	.	.	Q	31	.	.	X	-	1	0	PPP2R3C	34649497	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.457000	0.35212	2.207000	0.71202	0.528000	0.53228	TAA		0.348	PPP2R3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276687.1	NM_017917		G	35579746	A	G	35579746	2	3	777	1	0	0	0	0	0	0	0	1	12395	446	16	3		3	PPP2R3C	14	35579746	Silent	SNP	A	TCGA-P4-AAVL-01A-11D-A42J-10	14036236	35579746	71769794	52	45946											
GABRB3	2562	hgsc.bcm.edu	37	15	26793258	26793258	+	Frame_Shift_Del	DEL	C	C	-			TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chr15:26793258delC	ENST00000311550.5	-	9	1215	c.1104delG	c.(1102-1104)ctgfs	p.L369fs	GABRB3_ENST00000400188.3_Frame_Shift_Del_p.L298fs|GABRB3_ENST00000299267.4_Frame_Shift_Del_p.L369fs|GABRB3_ENST00000545868.1_Frame_Shift_Del_p.L284fs|GABRB3_ENST00000541819.2_Frame_Shift_Del_p.L425fs	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	369					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GCGATGTCAACAGAATATTTC	0.448																																																0													115	111	112					15																	26793258		2203	4300	6503	SO:0001589	frameshift_variant	2562				CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4083	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 3"	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.1104delG	chr15.hg19:g.26793258delC	ENSP00000308725:p.Leu369fs		B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Frame_Shift_Del	DEL	ENST00000311550.5	hg19	CCDS10019.1																																																																																				0.448	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			-	26793258	C	-	26793258	7	5	777	1	0	1	0	1	0	0	0	0	6170	465	17	0	321	0	GABRB3	15	26793258	Frame_Shift_Del	DEL	C	TCGA-P4-AAVL-01A-11D-A42J-10		26793258	75738134	53	45947											
CHP	11261	hgsc.bcm.edu	37	15	41555021	41555022	+	Frame_Shift_Ins	INS	-	-	A			TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chr15:41555021_41555022insA	ENST00000334660.5	+	4	529_530	c.289_290insA	c.(289-291)gaafs	p.E97fs	CHP1_ENST00000558351.1_3'UTR|CHP1_ENST00000560397.1_Frame_Shift_Ins_p.E97fs	NM_007236.4	NP_009167.1	Q99653	CHP1_HUMAN	calcineurin-like EF-hand protein 1	97	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium ion-dependent exocytosis (GO:0017156)|cellular response to acidic pH (GO:0071468)|cytoplasmic microtubule organization (GO:0031122)|membrane docking (GO:0022406)|membrane fusion (GO:0061025)|membrane organization (GO:0061024)|microtubule bundle formation (GO:0001578)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatase activity (GO:0010923)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of protein glycosylation (GO:0060050)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of protein transport (GO:0051222)|positive regulation of sodium:proton antiporter activity (GO:0032417)|potassium ion transport (GO:0006813)|protein export from nucleus (GO:0006611)|protein oligomerization (GO:0051259)|protein stabilization (GO:0050821)|regulation of intracellular pH (GO:0051453)|small GTPase mediated signal transduction (GO:0007264)|transcytosis (GO:0045056)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|kinase binding (GO:0019900)|microtubule binding (GO:0008017)|potassium channel regulator activity (GO:0015459)|protein kinase inhibitor activity (GO:0004860)|transporter activity (GO:0005215)										TGAGGATAATGAAAAGAGCAAA	0.431																																																0																																										SO:0001589	frameshift_variant	11261				CCDS10073.1	15q13.3	2013-01-11	2013-01-11		ENSG00000187446	ENSG00000187446		"EF-hand domain containing"	17433	protein-coding gene	gene with protein product	"calcineurin homologous protein"	606988				15987692, 20720019	Standard	NM_007236		Approved	Sid470p, CHP, SLC9A1BP, p22, p24	uc001znl.3	Q99653	OTTHUMG00000130233	ENST00000334660.5:c.293dupA	chr15.hg19:g.41555025_41555025dupA	ENSP00000335632:p.Glu97fs		B2R6H9|Q6FHZ9	Frame_Shift_Ins	INS	ENST00000334660.5	hg19	CCDS10073.1																																																																																				0.431	CHP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252554.2	NM_007236		A	41555022	-	A	41555021	7	5	777	1	0	1	1	0	0	0	0	0	3368	1291	45	0	303	0	CHP	15	41555021	Frame_Shift_Ins	INS	-	TCGA-P4-AAVL-01A-11D-A42J-10	14761763	41555021	60976371	54	45948											
DUT	1854	hgsc.bcm.edu	37	15	48623926	48623926	+	Missense_Mutation	SNP	A	A	G			TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chr15:48623926A>G	ENST00000331200.3	+	1	307	c.214A>G	c.(214-216)Aca>Gca	p.T72A	DUT_ENST00000559540.1_5'Flank|RP11-154J22.1_ENST00000560323.1_RNA|RP11-154J22.1_ENST00000559134.1_RNA|DUT_ENST00000559935.1_Intron|DUT_ENST00000559416.1_Intron|DUT_ENST00000558813.1_Intron|DUT_ENST00000455976.2_5'Flank	NM_001025248.1|NM_001025249.1	NP_001020419.1|NP_001020420.1	P33316	DUT_HUMAN	deoxyuridine triphosphatase	72					DNA replication (GO:0006260)|dUMP biosynthetic process (GO:0006226)|dUTP catabolic process (GO:0046081)|liver development (GO:0001889)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotrimerization (GO:0070207)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|regulation of protein heterodimerization activity (GO:0043497)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dUTP diphosphatase activity (GO:0004170)|poly(A) RNA binding (GO:0044822)|pyrimidine deoxyribonucleotide binding (GO:0032556)|receptor inhibitor activity (GO:0030547)			kidney(2)	2		all_lung(180;0.00265)		all cancers(107;2.66e-09)|GBM - Glioblastoma multiforme(94;6.76e-07)		CGGAGCCAGTACAGTCGGGGC	0.781								Modulation of nucleotide pools																																								0													1	1	1					15																	48623926		592	1311	1903	SO:0001583	missense	1854			M89913	CCDS32231.1, CCDS45255.1, CCDS45256.1	15q21.1	2010-06-24	2007-12-17		ENSG00000128951	ENSG00000128951	3.6.1.23		3078	protein-coding gene	gene with protein product		601266	"dUTP pyrophosphatase"			1325640, 9070952	Standard	XM_005254211		Approved	dUTPase	uc001zws.3	P33316		ENST00000331200.3:c.214A>G	chr15.hg19:g.48623926A>G	ENSP00000370376:p.Thr72Ala		A8K650|B4DPR5|O14785|Q16708|Q16860|Q6FHN1|Q6NSA3|Q96Q81	Missense_Mutation	SNP	ENST00000331200.3	hg19	CCDS32231.1	.	.	.	.	.	.	.	.	.	.	A	13.01	2.109003	0.37242	.	.	ENSG00000128951	ENST00000331200;ENST00000249783	T	0.45668	0.89	3.42	2.3	0.28687	.	2.177750	0.02159	N	0.058606	T	0.29389	0.0732	N	0.19112	0.55	0.20074	N	0.999933	B	0.14012	0.009	B	0.08055	0.003	T	0.14337	-1.0476	10	0.30078	T	0.28	.	5.3774	0.16172	0.8697:0.0:0.1303:0.0	.	72	P33316	DUT_HUMAN	A	72;70	ENSP00000370376:T72A	ENSP00000249783:T70A	T	+	1	0	DUT	46411218	0.046000	0.20272	0.045000	0.18777	0.277000	0.26821	-0.093000	0.11111	0.686000	0.31488	0.455000	0.32223	ACA		0.781	DUT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000417142.2			G	48623926	A	G	48623926	3	3	777	1	0	0	0	0	1	0	0	0	4835	391	14	3	216	3	DUT	15	48623926	Missense_Mutation	SNP	A	TCGA-P4-AAVL-01A-11D-A42J-10	7068905	48623926	53907466	55	45949											
ZNF280D	54816	hgsc.bcm.edu	37	15	56935189	56935189	+	Silent	SNP	T	T	C			TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chr15:56935189T>C	ENST00000267807.7	-	20	2436	c.2220A>G	c.(2218-2220)aaA>aaG	p.K740K	ZNF280D_ENST00000559237.1_Silent_p.K727K	NM_017661.2	NP_060131.2	Q6N043	Z280D_HUMAN	zinc finger protein 280D	740					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(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		GAGCTTCTTTTTTTAATCTTG	0.274																																																0													20	19	19					15																	56935189		2154	4168	6322	SO:0001819	synonymous_variant	54816			AB046804	CCDS32245.1, CCDS42041.1, CCDS58364.1	15q21.2	2008-05-02	2007-09-20	2007-09-20					25953	protein-coding gene	gene with protein product			"suppressor of hairy wing homolog 4 (Drosophila)"	SUHW4		10997877	Standard	XM_005254481		Approved	FLJ20086, ZNF634	uc002adu.3	Q6N043		ENST00000267807.7:c.2220A>G	chr15.hg19:g.56935189T>C			A1L495|B2RMT6|Q6MZM6|Q6N085|Q6P2R6|Q7Z6J5|Q9H0U5|Q9HCI8|Q9NXS0	Silent	SNP	ENST00000267807.7	hg19	CCDS32245.1																																																																																				0.274	ZNF280D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418891.2	XM_370867		C	56935189	T	C	56935189	2	2	777	1	0	0	0	0	0	0	0	1	17822	1838	64	3		3	ZNF280D	15	56935189	Silent	SNP	T	TCGA-P4-AAVL-01A-11D-A42J-10	8311263	56935189	45596203	56	45950											
MRPL46	26589	hgsc.bcm.edu	37	15	89010546	89010546	+	Silent	SNP	C	C	T	rs540944922		TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chr15:89010546C>T	ENST00000312475.4	-	1	104	c.63G>A	c.(61-63)agG>agA	p.R21R	MRPS11_ENST00000353598.6_5'Flank|MRPS11_ENST00000325844.4_5'Flank|MRPL46_ENST00000559538.1_5'Flank	NM_022163.3	NP_071446.2	Q9H2W6	RM46_HUMAN	mitochondrial ribosomal protein L46	21						mitochondrion (GO:0005739)|ribosome (GO:0005840)	hydrolase activity (GO:0016787)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5	Lung NSC(78;0.203)		BRCA - Breast invasive adenocarcinoma(143;0.188)			CGGCCCAGAGCCTCTCGAACC	0.672																																																0													16	19	18					15																	89010546		2198	4295	6493	SO:0001819	synonymous_variant	26589			AF210056	CCDS10341.1	15q25.3	2012-10-08	2001-12-10	2001-12-14	ENSG00000259494	ENSG00000259494		"Mitochondrial ribosomal proteins / large subunits"	1192	protein-coding gene	gene with protein product		611851	"chromosome 15 open reading frame 4"	C15orf4		11761714, 11551941	Standard	NM_022163		Approved	LIECG2, P2ECSL	uc002bmj.2	Q9H2W6	OTTHUMG00000148683	ENST00000312475.4:c.63G>A	chr15.hg19:g.89010546C>T			B2RD75|Q9HBU8	Silent	SNP	ENST00000312475.4	hg19	CCDS10341.1																																																																																				0.672	MRPL46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309073.1	NM_022163		T	89010546	C	T	89010546	2	4	777	1	0	0	0	0	0	0	0	1	9812	738	26	2		2	MRPL46	15	89010546	Silent	SNP	C	TCGA-P4-AAVL-01A-11D-A42J-10	32075357	89010546	13520846	57	45951											
LRRK1	79705	hgsc.bcm.edu	37	15	101602839	101602839	+	Missense_Mutation	SNP	G	G	T			TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chr15:101602839G>T	ENST00000388948.3	+	31	5217	c.4858G>T	c.(4858-4860)Gcc>Tcc	p.A1620S	RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000284395.5_Missense_Mutation_p.A1617S	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)			ACCCCAACAGGCCTTGGATAC	0.542																																																0													155	160	158					15																	101602839		1989	4164	6153	SO:0001583	missense	79705			AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.4858G>T	chr15.hg19:g.101602839G>T	ENSP00000373600:p.Ala1620Ser			Missense_Mutation	SNP	ENST00000388948.3	hg19	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	G	9.469	1.095041	0.20471	.	.	ENSG00000154237	ENST00000388948;ENST00000284395;ENST00000529762;ENST00000542170	T;T	0.69685	-0.42;-0.42	5.29	5.29	0.74685	WD40 repeat-like-containing domain (1);	0.562258	0.19004	N	0.125255	T	0.59770	0.2218	L	0.51422	1.61	0.25804	N	0.984476	B	0.29716	0.255	B	0.22152	0.038	T	0.49969	-0.8882	10	0.11485	T	0.65	.	18.9297	0.92560	0.0:0.0:1.0:0.0	.	1620	Q38SD2	LRRK1_HUMAN	S	1620;1617;311;174	ENSP00000373600:A1620S;ENSP00000284395:A1617S	ENSP00000284395:A1617S	A	+	1	0	LRRK1	99420362	0.998000	0.40836	0.975000	0.42487	0.027000	0.11550	3.003000	0.49505	2.484000	0.83849	0.491000	0.48974	GCC		0.542	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		T	101602839	G	T	101602839	3	4	777	1	0	0	0	0	1	0	0	0	9034	1203	42	4	4976	4	LRRK1	15	101602839	Missense_Mutation	SNP	G	TCGA-P4-AAVL-01A-11D-A42J-10	12592293	101602839	928553	58	45952											
PPL	5493	hgsc.bcm.edu	37	16	4933991	4933991	+	Silent	SNP	G	G	C			TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chr16:4933991G>C	ENST00000345988.2	-	22	4754	c.4665C>G	c.(4663-4665)tcC>tcG	p.S1555S	PPL_ENST00000590782.2_Silent_p.S1553S	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1555					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						CTAGTTCCTTGGATGACTTGG	0.557																																																0													102	102	102					16																	4933991		2197	4300	6497	SO:0001819	synonymous_variant	5493			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.4665C>G	chr16.hg19:g.4933991G>C			O60314|O60454|Q14C98	Silent	SNP	ENST00000345988.2	hg19	CCDS10526.1																																																																																				0.557	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		C	4933991	G	C	4933991	2	2	777	1	0	0	0	0	0	0	0	1	12339	1335	47	4		4	PPL	16	4933991	Silent	SNP	G	TCGA-P4-AAVL-01A-11D-A42J-10		4933991	85420762	59	45953											
C16orf72	29035	hgsc.bcm.edu	37	16	9186850	9186850	+	Missense_Mutation	SNP	T	T	A			TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chr16:9186850T>A	ENST00000327827.7	+	2	696	c.299T>A	c.(298-300)cTc>cAc	p.L100H		NM_014117.2	NP_054836.2	Q14CZ0	CP072_HUMAN	chromosome 16 open reading frame 72	100										endometrium(4)|large_intestine(2)|lung(2)	8						GTCACCAATCTCTACAAAGGT	0.522																																																0													44	40	41					16																	9186850		2197	4300	6497	SO:0001583	missense	29035			AK123266	CCDS10538.1	16p13.2	2012-11-19			ENSG00000182831	ENSG00000182831			30103	protein-coding gene	gene with protein product						8889548	Standard	NM_014117		Approved	FLJ41272, PRO0149	uc002czm.3	Q14CZ0	OTTHUMG00000178147	ENST00000327827.7:c.299T>A	chr16.hg19:g.9186850T>A	ENSP00000331720:p.Leu100His			Missense_Mutation	SNP	ENST00000327827.7	hg19	CCDS10538.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.692171	0.88735	.	.	ENSG00000182831	ENST00000327827	T	0.72167	-0.63	4.09	4.09	0.47781	.	0.065681	0.64402	D	0.000012	D	0.82375	0.5023	M	0.81341	2.54	0.80722	D	1	D	0.76494	0.999	D	0.63703	0.917	D	0.85423	0.1144	10	0.87932	D	0	-16.5797	13.2393	0.59987	0.0:0.0:0.0:1.0	.	100	Q14CZ0	CP072_HUMAN	H	100	ENSP00000331720:L100H	ENSP00000331720:L100H	L	+	2	0	C16orf72	9094351	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.699000	0.84547	1.693000	0.51124	0.533000	0.62120	CTC		0.522	C16orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440760.2	NM_014117		A	9186850	T	A	9186850	3	1	777	1	0	0	0	0	1	0	0	0	1833	1551	54	5	305	5	C16orf72	16	9186850	Missense_Mutation	SNP	T	TCGA-P4-AAVL-01A-11D-A42J-10	4252859	9186850	81167903	60	45954											
ZNF423	23090	hgsc.bcm.edu	37	16	49672690	49672690	+	Frame_Shift_Del	DEL	G	G	-			TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chr16:49672690delG	ENST00000561648.1	-	4	426	c.373delC	c.(373-375)ctcfs	p.L125fs	ZNF423_ENST00000562871.1_Frame_Shift_Del_p.L65fs|ZNF423_ENST00000535559.1_Frame_Shift_Del_p.L8fs|ZNF423_ENST00000563137.2_Frame_Shift_Del_p.L65fs|ZNF423_ENST00000562520.1_Frame_Shift_Del_p.L65fs|ZNF423_ENST00000567169.1_Frame_Shift_Del_p.L8fs|ZNF423_ENST00000262383.2_Frame_Shift_Del_p.L125fs	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	125					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)				CCGAGGCCGAGGTCACAACCA	0.602																																																0													64	60	61					16																	49672690		2198	4300	6498	SO:0001589	frameshift_variant	23090			AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"Zinc fingers, C2H2-type"	16762	protein-coding gene	gene with protein product	"OLF-1/EBF associated zinc finger gene", " Smad- and Olf-interacting zinc finger protein", "early B-cell factor associated zinc finger protein"	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.373delC	chr16.hg19:g.49672690delG	ENSP00000455426:p.Leu125fs		O94860|Q76N04|Q9NZ13	Frame_Shift_Del	DEL	ENST00000561648.1	hg19	CCDS32445.1																																																																																				0.602	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		-	49672690	G	-	49672690	7	5	777	1	0	1	0	1	0	0	0	0	17903	1000	35	0	3501	0	ZNF423	16	49672690	Frame_Shift_Del	DEL	G	TCGA-P4-AAVL-01A-11D-A42J-10	40485840	49672690	40682063	61	45955	493	3									
ZNF423	23090	hgsc.bcm.edu	37	16	49672691	49672695	+	Frame_Shift_Del	DEL	GTCAC	GTCAC	-			TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	GTCAC	GTCAC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chr16:49672691_49672695delGTCAC	ENST00000561648.1	-	4	421_425	c.368_372delGTGAC	c.(367-372)tgtgacfs	p.CD123fs	ZNF423_ENST00000562871.1_Frame_Shift_Del_p.CD63fs|ZNF423_ENST00000535559.1_Frame_Shift_Del_p.CD6fs|ZNF423_ENST00000563137.2_Frame_Shift_Del_p.CD63fs|ZNF423_ENST00000562520.1_Frame_Shift_Del_p.CD63fs|ZNF423_ENST00000567169.1_Frame_Shift_Del_p.CD6fs|ZNF423_ENST00000262383.2_Frame_Shift_Del_p.CD123fs	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	123					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)				CGAGGCCGAGGTCACAACCATCTCC	0.6																																																0																																										SO:0001589	frameshift_variant	23090			AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"Zinc fingers, C2H2-type"	16762	protein-coding gene	gene with protein product	"OLF-1/EBF associated zinc finger gene", " Smad- and Olf-interacting zinc finger protein", "early B-cell factor associated zinc finger protein"	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.368_372delGTGAC	chr16.hg19:g.49672691_49672695delGTCAC	ENSP00000455426:p.Cys123fs		O94860|Q76N04|Q9NZ13	Frame_Shift_Del	DEL	ENST00000561648.1	hg19	CCDS32445.1																																																																																				0.6	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		-	49672695	GTCAC	-	49672691	7	5	777	1	0	1	0	1	0	0	0	0	17903	1252	44	0	3502	0	ZNF423	16	49672691	Frame_Shift_Del	DEL	GTCAC	TCGA-P4-AAVL-01A-11D-A42J-10	1	49672691	40682062	62	45956	493	3									
ZNF423	23090	hgsc.bcm.edu	37	16	49672693	49672695	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	CAC	CAC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chr16:49672693_49672695delCAC	ENST00000561648.1	-	4	421_423	c.368_370delGTG	c.(367-372)tgtgac>tac	p.123_124CD>Y	ZNF423_ENST00000562871.1_In_Frame_Del_p.63_64CD>Y|ZNF423_ENST00000535559.1_In_Frame_Del_p.6_7CD>Y|ZNF423_ENST00000563137.2_In_Frame_Del_p.63_64CD>Y|ZNF423_ENST00000562520.1_In_Frame_Del_p.63_64CD>Y|ZNF423_ENST00000567169.1_In_Frame_Del_p.6_7CD>Y|ZNF423_ENST00000262383.2_In_Frame_Del_p.123_124CD>Y	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	123					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)				AGGCCGAGGTCACAACCATCTCC	0.596																																																0																																										SO:0001651	inframe_deletion	23090			AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"Zinc fingers, C2H2-type"	16762	protein-coding gene	gene with protein product	"OLF-1/EBF associated zinc finger gene", " Smad- and Olf-interacting zinc finger protein", "early B-cell factor associated zinc finger protein"	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.368_370delGTG	chr16.hg19:g.49672693_49672695delCAC	ENSP00000455426:p.Cys123_Asp124delinsTyr		O94860|Q76N04|Q9NZ13	In_Frame_Del	DEL	ENST00000561648.1	hg19	CCDS32445.1																																																																																				0.596	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		-	49672695	CAC	-	49672693	7	5	777	1	0	1	0	1	0	0	0	0	17903	826	29	0	3504	0	ZNF423	16	49672693	In_Frame_Del	DEL	CAC	TCGA-P4-AAVL-01A-11D-A42J-10	2	49672693	40682060	63	45957	493	3									
SLC6A2	6530	hgsc.bcm.edu	37	16	55719085	55719085	+	Silent	SNP	C	C	T			TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chr16:55719085C>T	ENST00000379906.2	+	4	930	c.675C>T	c.(673-675)agC>agT	p.S225S	SLC6A2_ENST00000414754.3_Silent_p.S225S|SLC6A2_ENST00000566163.1_Silent_p.S225S|SLC6A2_ENST00000567238.1_Silent_p.S120S|SLC6A2_ENST00000561820.1_Silent_p.S225S|SLC6A2_ENST00000219833.8_Silent_p.S225S|SLC6A2_ENST00000568943.1_Silent_p.S225S	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	225					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)	ACGAGAGCAGCGGGATTCATG	0.587																																																0													118	103	108					16																	55719085		2198	4300	6498	SO:0001819	synonymous_variant	6530				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.675C>T	chr16.hg19:g.55719085C>T			B2R707|B4DX48|Q96KH8	Silent	SNP	ENST00000379906.2	hg19	CCDS10754.1																																																																																				0.587	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256922.2			T	55719085	C	T	55719085	2	4	777	1	0	0	0	0	0	0	0	1	14689	767	27	1		1	SLC6A2	16	55719085	Silent	SNP	C	TCGA-P4-AAVL-01A-11D-A42J-10	6046392	55719085	34635668	64	45958											
DPEP1	1800	hgsc.bcm.edu	37	16	89704613	89704613	+	Missense_Mutation	SNP	T	T	C			TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chr16:89704613T>C	ENST00000393092.3	+	11	1510	c.1219T>C	c.(1219-1221)Tgt>Cgt	p.C407R	DPEP1_ENST00000261615.4_Missense_Mutation_p.C407R|DPEP1_ENST00000421184.1_Missense_Mutation_p.C407R	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	407					antibiotic metabolic process (GO:0016999)|arachidonic acid metabolic process (GO:0019369)|cellular lactam catabolic process (GO:0072340)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to nitric oxide (GO:0071732)|glutathione metabolic process (GO:0006749)|homocysteine metabolic process (GO:0050667)|leukotriene metabolic process (GO:0006691)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|apical part of cell (GO:0045177)|cell projection (GO:0042995)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|dipeptidyl-peptidase activity (GO:0008239)|GPI anchor binding (GO:0034235)|metallodipeptidase activity (GO:0070573)|metalloexopeptidase activity (GO:0008235)|modified amino acid binding (GO:0072341)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	CCTGGTCCTCTGTCTGTCTCT	0.657																																																0													30	36	34					16																	89704613		2188	4290	6478	SO:0001583	missense	1800				CCDS10982.1	16q24	2011-07-22			ENSG00000015413	ENSG00000015413	3.4.13.19		3002	protein-coding gene	gene with protein product		179780					Standard	NM_004413		Approved		uc002fnr.4	P16444	OTTHUMG00000138052	ENST00000393092.3:c.1219T>C	chr16.hg19:g.89704613T>C	ENSP00000376807:p.Cys407Arg		D3DX80|Q96AK2	Missense_Mutation	SNP	ENST00000393092.3	hg19	CCDS10982.1	.	.	.	.	.	.	.	.	.	.	t	9.017	0.983958	0.18889	.	.	ENSG00000015413	ENST00000421184;ENST00000393092;ENST00000261615	T;T;T	0.20738	2.05;2.05;2.05	5.11	-10.2	0.00374	.	2.970350	0.01127	N	0.005905	T	0.09730	0.0239	N	0.16478	0.41	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.14531	-1.0469	10	0.36615	T	0.2	-6.3644	3.003	0.06019	0.135:0.0879:0.3417:0.4354	.	407	P16444	DPEP1_HUMAN	R	407	ENSP00000397313:C407R;ENSP00000376807:C407R;ENSP00000261615:C407R	ENSP00000261615:C407R	C	+	1	0	DPEP1	88232114	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-2.591000	0.00899	-2.931000	0.00300	-0.575000	0.04146	TGT		0.657	DPEP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000423058.1	NM_001128141		C	89704613	T	C	89704613	3	2	777	1	0	0	0	0	1	0	0	0	4715	1580	55	3	1257	3	DPEP1	16	89704613	Missense_Mutation	SNP	T	TCGA-P4-AAVL-01A-11D-A42J-10	33985528	89704613	650140	65	45959											
SCARF1	8578	hgsc.bcm.edu	37	17	1540075	1540075	+	Missense_Mutation	SNP	C	C	T			TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chr17:1540075C>T	ENST00000263071.4	-	10	1610	c.1561G>A	c.(1561-1563)Gac>Aac	p.D521N	SCARF1_ENST00000571272.1_Missense_Mutation_p.M508I|SCARF1_ENST00000348987.3_Missense_Mutation_p.D435N	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	521	Pro/Ser-rich.				cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|dendrite development (GO:0016358)|neuron remodeling (GO:0016322)|positive regulation of axon regeneration (GO:0048680)|positive regulation of neuron projection development (GO:0010976)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GAGAAGGAGTCATCAGTGGCC	0.607																																																0													106	108	107					17																	1540075		2203	4300	6503	SO:0001583	missense	8578			D63483	CCDS11007.1, CCDS45564.1	17p13.3	2008-07-18			ENSG00000074660	ENSG00000074660			16820	protein-coding gene	gene with protein product	"scavenger receptor expressed by endothelial cells", "acetyl LDL receptor"	607873				9395444, 8590280	Standard	NM_003693		Approved	SREC, KIAA0149	uc002fsz.2	Q14162	OTTHUMG00000090555	ENST00000263071.4:c.1561G>A	chr17.hg19:g.1540075C>T	ENSP00000263071:p.Asp521Asn		A8MQ05|O43701|Q8NHD2|Q8NHD3|Q8NHD4|Q8NHD5	Missense_Mutation	SNP	ENST00000263071.4	hg19	CCDS11007.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	15.34|15.34	2.805426|2.805426	0.50315|0.50315	.|.	.|.	ENSG00000074660|ENSG00000074660	ENST00000263071;ENST00000348987|ENST00000434376	T;T|.	0.33216|.	1.99;1.42|.	5.15|5.15	5.15|5.15	0.70609|0.70609	.|.	0.154024|.	0.31177|.	N|.	0.008101|.	T|T	0.31199|0.31199	0.0789|0.0789	.|.	.|.	.|.	0.31528|0.31528	N|N	0.661541|0.661541	P;B|B	0.45715|0.23249	0.865;0.349|0.082	B;B|B	0.42555|0.21917	0.391;0.122|0.037	T|T	0.23619|0.23619	-1.0183|-1.0183	9|7	0.08179|0.22706	T|T	0.78|0.39	-32.7609|-32.7609	7.8595|7.8595	0.29501|0.29501	0.0:0.8217:0.0:0.1783|0.0:0.8217:0.0:0.1783	.|.	435;521|508	Q14162-2;Q14162|Q14162-3	.;SREC_HUMAN|.	N|I	521;435|508	ENSP00000263071:D521N;ENSP00000323964:D435N|.	ENSP00000263071:D521N|ENSP00000411167:M508I	D|M	-|-	1|3	0|0	SCARF1|SCARF1	1486825|1486825	0.987000|0.987000	0.35691|0.35691	0.959000|0.959000	0.39883|0.39883	0.817000|0.817000	0.46193|0.46193	2.387000|2.387000	0.44389|0.44389	2.580000|2.580000	0.87095|0.87095	0.556000|0.556000	0.70494|0.70494	GAC|ATG		0.607	SCARF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207081.4	NM_003693		T	1540075	C	T	1540075	3	4	777	1	0	0	0	0	1	0	0	0	13889	826	29	2	939	2	SCARF1	17	1540075	Missense_Mutation	SNP	C	TCGA-P4-AAVL-01A-11D-A42J-10		1540075	79655135	66	45960											
ALOX15B	247	hgsc.bcm.edu	37	17	7948885	7948885	+	Missense_Mutation	SNP	C	C	T	rs370434436		TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chr17:7948885C>T	ENST00000380183.4	+	8	1220	c.1081C>T	c.(1081-1083)Cgc>Tgc	p.R361C	ALOX15B_ENST00000380173.2_Missense_Mutation_p.R361C|ALOX15B_ENST00000573359.1_Missense_Mutation_p.R361C|ALOX15B_ENST00000572022.1_Missense_Mutation_p.R361C	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	361	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				apoptotic process (GO:0006915)|arachidonic acid metabolic process (GO:0019369)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipid metabolic process (GO:0006629)|lipoxygenase pathway (GO:0019372)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostate gland development (GO:0030850)|regulation of epithelial cell differentiation (GO:0030856)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arachidonate 15-lipoxygenase activity (GO:0050473)|arachidonate 8(S)-lipoxygenase activity (GO:0036403)|calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|lipid binding (GO:0008289)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						GACCTGGGTGCGCAATGCCGA	0.637													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17957	0.0		0.0	False		,,,				2504	0.0															0								C	CYS/ARG,CYS/ARG,CYS/ARG	4,4402	9.9+/-24.2	0,4,2199	108	80	90		1081,1081,1081	1.4	0.8	17		90	0,8600		0,0,4300	no	missense,missense,missense	ALOX15B	NM_001039130.1,NM_001039131.1,NM_001141.2	180,180,180	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	probably-damaging,probably-damaging,probably-damaging	361/648,361/603,361/677	7948885	4,13002	2203	4300	6503	SO:0001583	missense	247			U78294	CCDS11128.1, CCDS32558.1, CCDS32559.1	17p13.1	2013-03-20	2006-01-16		ENSG00000179593	ENSG00000179593	1.13.11.33	"Arachidonate lipoxygenases"	434	protein-coding gene	gene with protein product		603697	"arachidonate 15-lipoxygenase, second type"			9177185	Standard	NM_001039130		Approved	15-LOX-2	uc002gju.3	O15296	OTTHUMG00000108181	ENST00000380183.4:c.1081C>T	chr17.hg19:g.7948885C>T	ENSP00000369530:p.Arg361Cys		D3DTR2|Q8IYQ2|Q8TEV3|Q8TEV4|Q8TEV5|Q8TEV6|Q9UKM4	Missense_Mutation	SNP	ENST00000380183.4	hg19	CCDS11128.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.846791	0.51164	9.08E-4	0.0	ENSG00000179593	ENST00000380173;ENST00000339694;ENST00000380183	D;D	0.90444	-2.67;-2.67	4.53	1.38	0.22167	Lipoxygenase, C-terminal (4);	0.054757	0.64402	D	0.000001	D	0.92509	0.7621	L	0.55103	1.725	0.49299	D	0.999772	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.97;1.0;0.999;1.0	D	0.91190	0.4983	10	0.87932	D	0	-29.9769	9.8306	0.40939	0.0:0.7463:0.0:0.2537	.	361;361;361;361	B4DNW8;O15296-2;O15296-4;O15296	.;.;.;LX15B_HUMAN	C	361	ENSP00000369520:R361C;ENSP00000369530:R361C	ENSP00000344337:R361C	R	+	1	0	ALOX15B	7889610	0.511000	0.26179	0.776000	0.31678	0.679000	0.39708	0.972000	0.29409	0.466000	0.27193	-0.244000	0.11960	CGC		0.637	ALOX15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226985.2			T	7948885	C	T	7948885	3	4	777	1	0	0	0	0	1	0	0	0	539	768	27	1	1111	1	ALOX15B	17	7948885	Missense_Mutation	SNP	C	TCGA-P4-AAVL-01A-11D-A42J-10	6408810	7948885	73246325	67	45961											
MYH10	4628	hgsc.bcm.edu	37	17	8448780	8448780	+	Missense_Mutation	SNP	A	A	G			TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chr17:8448780A>G	ENST00000269243.4	-	12	1525	c.1387T>C	c.(1387-1389)Ttt>Ctt	p.F463L	MYH10_ENST00000360416.3_Missense_Mutation_p.F473L|RN7SL129P_ENST00000479993.2_RNA|MYH10_ENST00000396239.1_Missense_Mutation_p.F463L|MYH10_ENST00000379980.4_Missense_Mutation_p.F479L	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	463	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						AAAATTTCAAATCCAGCAATA	0.433																																																0													106	99	102					17																	8448780		2203	4300	6503	SO:0001583	missense	4628			M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"Myosins / Myosin superfamily : Class II"	7568	protein-coding gene	gene with protein product		160776	"myosin, heavy polypeptide 10, non-muscle"			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.1387T>C	chr17.hg19:g.8448780A>G	ENSP00000269243:p.Phe463Leu		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	hg19	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	A	32	5.108528	0.94292	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	D;D;D;D	0.98701	-2.12;-2.12;-5.08;-2.12	5.0	5.0	0.66597	Myosin head, motor domain (3);	0.049358	0.85682	N	0.000000	D	0.99545	0.9837	H	0.99143	4.445	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	0.97669	1.0165	10	0.87932	D	0	.	15.1595	0.72771	1.0:0.0:0.0:0.0	.	472;473;463	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	L	463;473;463;479	ENSP00000269243:F463L;ENSP00000353590:F473L;ENSP00000379539:F463L;ENSP00000369315:F479L	ENSP00000269243:F463L	F	-	1	0	MYH10	8389505	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.032000	0.93736	2.216000	0.71823	0.533000	0.62120	TTT		0.433	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			G	8448780	A	G	8448780	3	3	777	1	0	0	0	0	1	0	0	0	10032	101	4	3	4663	3	MYH10	17	8448780	Missense_Mutation	SNP	A	TCGA-P4-AAVL-01A-11D-A42J-10	499895	8448780	72746430	68	45962											
KRT10	3858	hgsc.bcm.edu	37	17	38975316	38975316	+	Missense_Mutation	SNP	G	G	A			TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chr17:38975316G>A	ENST00000269576.5	-	7	1480	c.1471C>T	c.(1471-1473)Cac>Tac	p.H491Y	TMEM99_ENST00000301665.3_5'Flank	NM_000421.3	NP_000412	P13645	K1C10_HUMAN	keratin 10	491	Gly-rich.|Ser-rich.|Tail.			Missing (in Ref. 1; AAA60544). {ECO:0000305}.	cellular response to calcium ion (GO:0071277)|keratinocyte differentiation (GO:0030216)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of epidermis (GO:0030280)			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				ctgccgccgtggccgccgccg	0.801																																																0													1	1	1					17																	38975316		219	517	736	SO:0001583	missense	3858			J04029	CCDS11377.1	17q21.2	2013-06-20	2008-08-01		ENSG00000186395	ENSG00000186395		"-", "Intermediate filaments type I, keratins (acidic)"	6413	protein-coding gene	gene with protein product	"cytokeratin 10", "epidermolytic hyperkeratosis"	148080	"keratosis palmaris et plantaris"	KPP		2461420, 16831889	Standard	NM_000421		Approved	K10, CK10	uc002hvi.3	P13645	OTTHUMG00000133368	ENST00000269576.5:c.1471C>T	chr17.hg19:g.38975316G>A	ENSP00000269576:p.His491Tyr		Q14664|Q8N175	Missense_Mutation	SNP	ENST00000269576.5	hg19	CCDS11377.1	.	.	.	.	.	.	.	.	.	.	g	15.09	2.731363	0.48939	.	.	ENSG00000186395	ENST00000269576	D	0.83591	-1.74	5.21	-9.23	0.00672	.	2.489830	0.01848	N	0.035767	T	0.64724	0.2624	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.59397	-0.7462	10	0.45353	T	0.12	.	9.3977	0.38412	0.3538:0.2897:0.3564:0.0	.	491	P13645	K1C10_HUMAN	Y	491	ENSP00000269576:H491Y	ENSP00000269576:H491Y	H	-	1	0	KRT10	36228842	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-4.792000	0.00185	-2.762000	0.00369	-2.316000	0.00254	CAC		0.801	KRT10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257875.1	NM_000421		A	38975316	G	A	38975316	3	1	777	1	0	0	0	0	1	0	0	0	8450	1348	47	2	291	2	KRT10	17	38975316	Missense_Mutation	SNP	G	TCGA-P4-AAVL-01A-11D-A42J-10	30526536	38975316	42219894	69	45963											
PLEKHH3	79990	hgsc.bcm.edu	37	17	40823573	40823573	+	Silent	SNP	G	G	T			TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chr17:40823573G>T	ENST00000591022.1	-	8	1467	c.1080C>A	c.(1078-1080)acC>acA	p.T360T	PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000293349.6_Silent_p.T360T|PLEKHH3_ENST00000412503.1_Silent_p.T360T	NM_024927.4	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	360	MyTH4. {ECO:0000255|PROSITE- ProRule:PRU00359}.				signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		GTGCCTGCTCGGTCCTGGGTT	0.592																																																0													12	14	13					17																	40823573		2200	4298	6498	SO:0001819	synonymous_variant	79990			BC052978	CCDS11434.1	17q21.2	2013-01-11				ENSG00000068137		"Pleckstrin homology (PH) domain containing"	26105	protein-coding gene	gene with protein product						12477932	Standard	NM_024927		Approved	FLJ21019	uc002iau.3	Q7Z736		ENST00000591022.1:c.1080C>A	chr17.hg19:g.40823573G>T			C9JQ76|Q59H20|Q96B28|Q9H7D6|Q9NT18	Silent	SNP	ENST00000591022.1	hg19	CCDS11434.1																																																																																				0.592	PLEKHH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452332.1	NM_024927		T	40823573	G	T	40823573	2	4	777	1	0	0	0	0	0	0	0	1	12080	1103	39	4		4	PLEKHH3	17	40823573	Silent	SNP	G	TCGA-P4-AAVL-01A-11D-A42J-10	1848257	40823573	40371637	70	45964											
DHX8	1659	hgsc.bcm.edu	37	17	41597598	41597598	+	Missense_Mutation	SNP	T	T	A			TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chr17:41597598T>A	ENST00000262415.3	+	19	2972	c.2900T>A	c.(2899-2901)cTg>cAg	p.L967Q	DHX8_ENST00000540306.1_Missense_Mutation_p.L967Q	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	967					ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		CTGGGGGCCCTGGATGACGAG	0.547											OREG0024435	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(56;1548 1661 49258 49987)											0													89	85	86					17																	41597598		2203	4300	6503	SO:0001583	missense	1659			D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"DEAH-boxes"	2749	protein-coding gene	gene with protein product		600396	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.2900T>A	chr17.hg19:g.41597598T>A	ENSP00000262415:p.Leu967Gln	902		Missense_Mutation	SNP	ENST00000262415.3	hg19	CCDS11464.1	.	.	.	.	.	.	.	.	.	.	T	28.3	4.905425	0.92107	.	.	ENSG00000067596	ENST00000540306;ENST00000262415	T;T	0.10382	2.88;2.88	5.8	5.8	0.92144	Helicase-associated domain (2);	0.000000	0.64402	D	0.000004	T	0.51517	0.1679	H	0.98664	4.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.71573	-0.4552	10	0.87932	D	0	.	15.3296	0.74196	0.0:0.0:0.0:1.0	.	967;967	F5H658;Q14562	.;DHX8_HUMAN	Q	967	ENSP00000437886:L967Q;ENSP00000262415:L967Q	ENSP00000262415:L967Q	L	+	2	0	DHX8	38953124	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.876000	0.87215	2.226000	0.72624	0.459000	0.35465	CTG		0.547	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453485.1			A	41597598	T	A	41597598	3	1	777	1	0	0	0	0	1	0	0	0	4517	1580	55	5	2974	5	DHX8	17	41597598	Missense_Mutation	SNP	T	TCGA-P4-AAVL-01A-11D-A42J-10	774025	41597598	39597612	71	45965											
DSG4	147409	hgsc.bcm.edu	37	18	28968923	28968923	+	Silent	SNP	C	C	T			TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chr18:28968923C>T	ENST00000308128.4	+	5	594	c.459C>T	c.(457-459)aaC>aaT	p.N153N	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000359747.4_Silent_p.N153N|RP11-534N16.1_ENST00000581452.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	153	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.		Missing (in HYPT6). {ECO:0000269|PubMed:12705872, ECO:0000269|PubMed:15191570}.		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)			TAAATGATAACGCTCCAGTCT	0.413																																																0													108	104	106					18																	28968923		2203	4299	6502	SO:0001819	synonymous_variant	147409			AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"Cadherins / Major cadherins"	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.459C>T	chr18.hg19:g.28968923C>T			A2RUI1|Q6Y9L9|Q8IXV4	Silent	SNP	ENST00000308128.4	hg19	CCDS11897.1																																																																																				0.413	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986		T	28968923	C	T	28968923	2	4	777	1	0	0	0	0	0	0	0	1	4781	535	19	1		1	DSG4	18	28968923	Silent	SNP	C	TCGA-P4-AAVL-01A-11D-A42J-10		28968923	49108325	72	45966											
FZR1	51343	hgsc.bcm.edu	37	19	3527661	3527661	+	Missense_Mutation	SNP	C	C	G			TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chr19:3527661C>G	ENST00000395095.3	+	6	503	c.503C>G	c.(502-504)aCc>aGc	p.T168S	FZR1_ENST00000441788.2_Missense_Mutation_p.T168S|FZR1_ENST00000313639.8_Intron	NM_001136198.1	NP_001129670.1	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	168					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)		CGGAAACCCACCCGCAAGATC	0.622																																																0													68	57	61					19																	3527661		2199	4296	6495	SO:0001583	missense	51343			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.503C>G	chr19.hg19:g.3527661C>G	ENSP00000378529:p.Thr168Ser		O75869|Q86U66|Q96NW8|Q9UI96|Q9ULH8|Q9UM10|Q9UNQ1|Q9Y2T8	Missense_Mutation	SNP	ENST00000395095.3	hg19	CCDS45916.1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.675167	0.67928	.	.	ENSG00000105325	ENST00000441788;ENST00000395095	T;T	0.07327	3.2;3.2	5.14	5.14	0.70334	WD40 repeat-like-containing domain (1);	0.095599	0.64402	D	0.000001	T	0.10809	0.0264	L	0.53249	1.67	0.80722	D	1	B;B	0.09022	0.0;0.002	B;B	0.08055	0.001;0.003	T	0.12708	-1.0537	10	0.18276	T	0.48	-27.132	17.2027	0.86910	0.0:1.0:0.0:0.0	.	168;168	Q9UM11;Q9UM11-2	FZR_HUMAN;.	S	168	ENSP00000410369:T168S;ENSP00000378529:T168S	ENSP00000378529:T168S	T	+	2	0	FZR1	3478661	1.000000	0.71417	0.972000	0.41901	0.989000	0.77384	5.865000	0.69583	2.399000	0.81585	0.655000	0.94253	ACC		0.622	FZR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452869.2	NM_016263		G	3527661	C	G	3527661	3	3	777	1	0	0	0	0	1	0	0	0	6140	507	18	4	525	4	FZR1	19	3527661	Missense_Mutation	SNP	C	TCGA-P4-AAVL-01A-11D-A42J-10		3527661	55601322	73	45967											
PLIN4	729359	hgsc.bcm.edu	37	19	4512405	4512405	+	Missense_Mutation	SNP	T	T	G			TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chr19:4512405T>G	ENST00000301286.3	-	3	1524	c.1525A>C	c.(1525-1527)Acc>Ccc	p.T509P		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	509	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						GTCTTGGTGGTGTCTACGCCG	0.612																																																0													105	111	109					19																	4512405		2036	4180	6216	SO:0001583	missense	729359			AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"Perilipins"	29393	protein-coding gene	gene with protein product		613247	"KIAA1881"	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.1525A>C	chr19.hg19:g.4512405T>G	ENSP00000301286:p.Thr509Pro		A6NEI2	Missense_Mutation	SNP	ENST00000301286.3	hg19	CCDS45927.1	.	.	.	.	.	.	.	.	.	.	T	14.90	2.674559	0.47781	.	.	ENSG00000167676	ENST00000301286	T	0.06608	3.28	5.43	4.4	0.53042	.	0.131117	0.35040	N	0.003484	T	0.25082	0.0609	M	0.85859	2.78	0.36524	D	0.870345	D	0.89917	1.0	D	0.74348	0.983	T	0.15665	-1.0429	10	0.51188	T	0.08	-21.1732	9.9845	0.41832	0.1518:0.0:0.0:0.8482	.	509	Q96Q06	PLIN4_HUMAN	P	509	ENSP00000301286:T509P	ENSP00000301286:T509P	T	-	1	0	PLIN4	4463405	0.125000	0.22332	0.993000	0.49108	0.030000	0.12068	1.598000	0.36740	0.866000	0.35629	0.459000	0.35465	ACC		0.612	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		G	4512405	T	G	4512405	3	3	777	1	0	0	0	0	1	0	0	0	12094	1696	59	5	2564	5	PLIN4	19	4512405	Missense_Mutation	SNP	T	TCGA-P4-AAVL-01A-11D-A42J-10	984744	4512405	54616578	74	45968											
TNPO2	30000	hgsc.bcm.edu	37	19	12816127	12816127	+	Missense_Mutation	SNP	T	T	C			TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chr19:12816127T>C	ENST00000592287.1	-	17	2057	c.1949A>G	c.(1948-1950)gAg>gGg	p.E650G	TNPO2_ENST00000450764.2_Missense_Mutation_p.E650G|TNPO2_ENST00000588216.1_Missense_Mutation_p.E650G|TNPO2_ENST00000425528.1_Missense_Mutation_p.E650G|SNORD41_ENST00000386967.1_RNA|TNPO2_ENST00000441499.1_Missense_Mutation_p.E650G|TNPO2_ENST00000356861.5_Missense_Mutation_p.E650G	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	650					intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ACCCAGGCCCTCGGCCAGGCC	0.597																																																0													27	29	28					19																	12816127		2152	4253	6405	SO:0001583	missense	30000			AF019039	CCDS45991.1, CCDS45992.1	19p13.13	2009-01-12	2009-01-12			ENSG00000105576		"Importins"	19998	protein-coding gene	gene with protein product	"importin 3", "karyopherin beta 2b"	603002				9298975, 12384575	Standard	NM_013433		Approved	IPO3, KPNB2B, FLJ12155, TRN2	uc002muo.3	O14787		ENST00000592287.1:c.1949A>G	chr19.hg19:g.12816127T>C	ENSP00000468434:p.Glu650Gly		O14655|Q6IN77	Missense_Mutation	SNP	ENST00000592287.1	hg19	CCDS45991.1	.	.	.	.	.	.	.	.	.	.	T	16.63	3.175437	0.57692	.	.	ENSG00000105576	ENST00000536114;ENST00000425528;ENST00000441499;ENST00000450764;ENST00000356861;ENST00000420511;ENST00000546320	T;T;T;T	0.61158	0.13;0.13;0.13;0.13	5.64	5.64	0.86602	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69504	0.3118	M	0.89353	3.025	0.80722	D	1	P;P	0.49862	0.756;0.929	P;P	0.46339	0.495;0.513	T	0.77702	-0.2489	10	0.87932	D	0	-20.3413	14.8368	0.70190	0.0:0.0:0.0:1.0	.	814;650	Q4LE60;O14787	.;TNPO2_HUMAN	G	814;650;650;650;650;650;650	ENSP00000407182:E650G;ENSP00000389648:E650G;ENSP00000397379:E650G;ENSP00000349321:E650G	ENSP00000349321:E650G	E	-	2	0	TNPO2	12677127	1.000000	0.71417	1.000000	0.80357	0.112000	0.19704	7.671000	0.83941	2.144000	0.66660	0.460000	0.39030	GAG		0.597	TNPO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450785.1	NM_013433		C	12816127	T	C	12816127	3	2	777	1	0	0	0	0	1	0	0	0	16341	1551	54	3	776	3	TNPO2	19	12816127	Missense_Mutation	SNP	T	TCGA-P4-AAVL-01A-11D-A42J-10	8303722	12816127	46312856	75	45969											
NOTCH3	4854	hgsc.bcm.edu	37	19	15288556	15288567	+	In_Frame_Del	DEL	TGGCCTGGCAGG	TGGCCTGGCAGG	-			TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	TGGCCTGGCAGG	TGGCCTGGCAGG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chr19:15288556_15288567delTGGCCTGGCAGG	ENST00000263388.2	-	24	4247_4258	c.4172_4183delCCTGCCAGGCCA	c.(4171-4185)gcctgccaggccaag>gag	p.1391_1395ACQAK>E		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1391					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)			TCCCCGCGCTTGGCCTGGCAGGCGGCGCGCGG	0.778																																																0																																										SO:0001651	inframe_deletion	4854			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"Ankyrin repeat domain containing"	7883	protein-coding gene	gene with protein product		600276	"Notch (Drosophila) homolog 3", "Notch homolog 3 (Drosophila)"	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.4172_4183delCCTGCCAGGCCA	chr19.hg19:g.15288556_15288567delTGGCCTGGCAGG	ENSP00000263388:p.Ala1391_Lys1395delinsGlu		Q9UEB3|Q9UPL3|Q9Y6L8	In_Frame_Del	DEL	ENST00000263388.2	hg19	CCDS12326.1																																																																																				0.778	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		-	15288567	TGGCCTGGCAGG	-	15288556	7	5	777	1	0	1	0	1	0	0	0	0	10552	1821	63	0	2822	0	NOTCH3	19	15288556	In_Frame_Del	DEL	TGGCCTGGCAGG	TCGA-P4-AAVL-01A-11D-A42J-10	2472429	15288556	43840427	76	45970											
ZNF536	9745	hgsc.bcm.edu	37	19	30934626	30934626	+	Missense_Mutation	SNP	C	C	T			TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chr19:30934626C>T	ENST00000355537.3	+	2	304	c.157C>T	c.(157-159)Cgg>Tgg	p.R53W		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	53					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)					GCTCCATCCCCGGCCCAACCC	0.667																																																0													57	59	58					19																	30934626		2203	4300	6503	SO:0001583	missense	9745				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"Zinc fingers, C2H2-type"	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.157C>T	chr19.hg19:g.30934626C>T	ENSP00000347730:p.Arg53Trp		A2RU18	Missense_Mutation	SNP	ENST00000355537.3	hg19	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.824161	0.32237	.	.	ENSG00000198597	ENST00000355537	T	0.09163	3.01	5.37	0.305	0.15801	.	0.059306	0.64402	D	0.000002	T	0.15046	0.0363	L	0.27053	0.805	0.40413	D	0.979763	B;D	0.89917	0.014;1.0	B;P	0.61874	0.003;0.895	T	0.02275	-1.1184	10	0.87932	D	0	-26.6384	10.0943	0.42466	0.4232:0.5051:0.0:0.0716	.	53;53	A7E228;O15090	.;ZN536_HUMAN	W	53	ENSP00000347730:R53W	ENSP00000347730:R53W	R	+	1	2	ZNF536	35626466	0.637000	0.27216	0.761000	0.31378	0.804000	0.45430	1.329000	0.33770	0.302000	0.22762	0.462000	0.41574	CGG		0.667	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		T	30934626	C	T	30934626	3	4	777	1	0	0	0	0	1	0	0	0	17979	643	23	1	159	1	ZNF536	19	30934626	Missense_Mutation	SNP	C	TCGA-P4-AAVL-01A-11D-A42J-10	15646070	30934626	28194357	77	45971											
PSG9	5678	hgsc.bcm.edu	37	19	43762353	43762353	+	Splice_Site	DEL	C	C	-			TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chr19:43762353delC	ENST00000270077.3	-	5	1340		c.e5+1		PSG9_ENST00000443718.3_Splice_Site|PSG9_ENST00000244293.7_Frame_Shift_Del_p.G322fs|PSG9_ENST00000593948.1_Splice_Site|PSG9_ENST00000291752.5_Splice_Site|PSG9_ENST00000418820.2_Splice_Site|PSG9_ENST00000596730.1_Frame_Shift_Del_p.G229fs	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9						female pregnancy (GO:0007565)	extracellular region (GO:0005576)				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)				GATCCACTTACCAGAGACTTT	0.458																																																0													134	157	149					19																	43762353		2139	4280	6419	SO:0001630	splice_region_variant	5678			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.1243+1G>-	chr19.hg19:g.43762353delC			B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Splice_Site	DEL	ENST00000270077.3	hg19	CCDS12618.1																																																																																				0.458	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323065.1	NM_002784	Intron	-	43762353	C	-	43762353	8	5	777	1	0	1	0	1	0	0	1	0	12667	521	18	0	44	0	PSG9	19	43762353	Splice_Site	DEL	C	TCGA-P4-AAVL-01A-11D-A42J-10	12827727	43762353	15366630	78	45972											
MKKS	8195	hgsc.bcm.edu	37	20	10393727	10393727	+	Missense_Mutation	SNP	T	T	G	rs113994195		TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chr20:10393727T>G	ENST00000347364.3	-	3	1198	c.436A>C	c.(436-438)Agt>Cgt	p.S146R	MKKS_ENST00000399054.2_Missense_Mutation_p.S146R	NM_170784.2	NP_740754.1	Q9NPJ1	MKKS_HUMAN	McKusick-Kaufman syndrome	146					artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|chaperone-mediated protein complex assembly (GO:0051131)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|determination of left/right symmetry (GO:0007368)|fat cell differentiation (GO:0045444)|gonad development (GO:0008406)|heart development (GO:0007507)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of multicellular organism growth (GO:0040018)|protein folding (GO:0006457)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sensory perception of smell (GO:0007608)|social behavior (GO:0035176)|spermatid development (GO:0007286)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|motile cilium (GO:0031514)	ATP binding (GO:0005524)|RNA polymerase II repressing transcription factor binding (GO:0001103)|unfolded protein binding (GO:0051082)			kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|stomach(2)	16						ATCTGAGTACTACTAAAGTCC	0.413																																					Melanoma(79;1979 2212 6640)											0													93	88	90					20																	10393727		2203	4300	6503	SO:0001583	missense	8195			AF221993	CCDS13111.1	20p12	2013-01-08			ENSG00000125863	ENSG00000125863		"Heat Shock Proteins / Chaperonins"	7108	protein-coding gene	gene with protein product		604896		BBS6		9467007	Standard	NR_072977		Approved		uc002wnu.2	Q9NPJ1	OTTHUMG00000031868	ENST00000347364.3:c.436A>C	chr20.hg19:g.10393727T>G	ENSP00000246062:p.Ser146Arg		A8K7B0|D3DW18	Missense_Mutation	SNP	ENST00000347364.3	hg19	CCDS13111.1	.	.	.	.	.	.	.	.	.	.	T	7.604	0.673385	0.14776	.	.	ENSG00000125863	ENST00000347364;ENST00000399054	D;D	0.87650	-2.28;-2.28	5.63	3.29	0.37713	.	0.254278	0.51477	N	0.000093	T	0.80924	0.4717	L	0.41824	1.3	0.44603	D	0.99757	P	0.35011	0.48	B	0.35413	0.202	T	0.76767	-0.2838	10	0.62326	D	0.03	-36.1867	9.1713	0.37083	0.1233:0.0:0.1295:0.7473	.	146	Q9NPJ1	MKKS_HUMAN	R	146	ENSP00000246062:S146R;ENSP00000382008:S146R	ENSP00000246062:S146R	S	-	1	0	MKKS	10341727	0.997000	0.39634	0.001000	0.08648	0.008000	0.06430	4.565000	0.60836	0.449000	0.26747	0.477000	0.44152	AGT		0.413	MKKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077991.3			G	10393727	T	G	10393727	3	3	777	1	0	0	0	0	1	0	0	0	9602	1522	53	5	1292	5	MKKS	20	10393727	Missense_Mutation	SNP	T	TCGA-P4-AAVL-01A-11D-A42J-10		10393727	52631793	79	45973											
ISM1	140862	hgsc.bcm.edu	37	20	13273028	13273028	+	Silent	SNP	A	A	G			TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chr20:13273028A>G	ENST00000262487.4	+	5	801	c.795A>G	c.(793-795)gaA>gaG	p.E265E	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	265						extracellular region (GO:0005576)				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						TAGGAATTGAAGACACTTTTA	0.388																																																0													85	84	84					20																	13273028		1893	4122	6015	SO:0001819	synonymous_variant	140862			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.795A>G	chr20.hg19:g.13273028A>G			Q8WVH9	Silent	SNP	ENST00000262487.4	hg19	CCDS46579.1																																																																																				0.388	ISM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078039.2			G	13273028	A	G	13273028	2	3	777	1	0	0	0	0	0	0	0	1	7862	69	3	3		3	ISM1	20	13273028	Silent	SNP	A	TCGA-P4-AAVL-01A-11D-A42J-10	2879301	13273028	49752492	80	45974											
PLXNB2	23654	hgsc.bcm.edu	37	22	50721158	50721158	+	Missense_Mutation	SNP	G	G	A			TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chr22:50721158G>A	ENST00000449103.1	-	18	3109	c.2969C>T	c.(2968-2970)cCg>cTg	p.P990L	PLXNB2_ENST00000496720.1_5'Flank|PLXNB2_ENST00000359337.4_Missense_Mutation_p.P990L			O15031	PLXB2_HUMAN	plexin B2	990	IPT/TIG 3.				brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)	p.P1033R(1)		breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		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)		GCTTCGTAGCGGCTCGAAGGC	0.657																																																1	Substitution - Missense(1)	ovary(1)											15	22	20					22																	50721158		1975	4135	6110	SO:0001583	missense	23654				CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"Plexins"	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.2969C>T	chr22.hg19:g.50721158G>A	ENSP00000409171:p.Pro990Leu		A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	ENST00000449103.1	hg19	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.246268	0.59103	.	.	ENSG00000196576	ENST00000449103;ENST00000359337;ENST00000427829	D;D	0.89196	-2.48;-2.48	3.66	3.66	0.41972	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.51477	D	0.000082	D	0.93605	0.7958	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94236	0.7481	10	0.87932	D	0	.	12.8931	0.58082	0.0:0.0:1.0:0.0	.	990	O15031	PLXB2_HUMAN	L	990;990;51	ENSP00000409171:P990L;ENSP00000352288:P990L	ENSP00000352288:P990L	P	-	2	0	PLXNB2	49063285	1.000000	0.71417	0.513000	0.27749	0.186000	0.23388	4.090000	0.57693	1.898000	0.54952	0.313000	0.20887	CCG		0.657	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		A	50721158	G	A	50721158	3	1	777	1	0	0	0	0	1	0	0	0	12126	1116	39	1	2627	1	PLXNB2	22	50721158	Missense_Mutation	SNP	G	TCGA-P4-AAVL-01A-11D-A42J-10		50721158	583408	81	45975											
MAGIX	79917	hgsc.bcm.edu	37	X	49022721	49022721	+	Missense_Mutation	SNP	G	G	A			TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chrX:49022721G>A	ENST00000412696.2	+	6	988	c.988G>A	c.(988-990)Gga>Aga	p.G330R	MAGIX_ENST00000498742.1_3'UTR|MAGIX_ENST00000425661.2_Missense_Mutation_p.G254R|MAGIX_ENST00000376339.1_Missense_Mutation_p.G266R|MAGIX_ENST00000376338.3_Missense_Mutation_p.G271R	NM_024859.2	NP_079135.3	Q9H6Y5	MAGIX_HUMAN	MAGI family member, X-linked	330																	GATGGCAGCCGGAAGGCGGAG	0.711																																																0													3	4	4					X																	49022721		1782	3702	5484	SO:0001583	missense	79917			AK025340	CCDS48106.1, CCDS48107.1, CCDS75976.1	Xp11.23	2014-05-06			ENSG00000017621	ENSG00000269313			30006	protein-coding gene	gene with protein product							Standard	XM_005278065		Approved	PDZX, JM10, FLJ21687	uc010nin.1	Q9H6Y5	OTTHUMG00000188218	ENST00000412696.2:c.988G>A	chrX.hg19:g.49022721G>A	ENSP00000387928:p.Gly330Arg		A6XND4|A8MSX9|B7WP26|Q14C81	Missense_Mutation	SNP	ENST00000412696.2	hg19	CCDS48106.1	.	.	.	.	.	.	.	.	.	.	.	17.51	3.406473	0.62399	.	.	ENSG00000017621	ENST00000376339;ENST00000425661;ENST00000412696;ENST00000376338	T;T;T;T	0.52754	0.8;1.11;0.66;0.65	4.06	1.19	0.21007	.	.	.	.	.	T	0.50684	0.1630	L	0.32530	0.975	0.24950	N	0.991796	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79784	0.989;0.983;0.993;0.993	T	0.35895	-0.9770	9	0.87932	D	0	1.7998	3.7223	0.08462	0.2326:0.0:0.5753:0.1921	.	254;330;266;271	F8WCY7;Q9H6Y5;Q9H6Y5-3;Q9H6Y5-2	.;MAGIX_HUMAN;.;.	R	266;254;330;271	ENSP00000365517:G266R;ENSP00000403515:G254R;ENSP00000387928:G330R;ENSP00000365516:G271R	ENSP00000365516:G271R	G	+	1	0	MAGIX	48909665	0.509000	0.26163	0.376000	0.26042	0.719000	0.41307	1.763000	0.38461	-0.009000	0.14296	0.538000	0.68166	GGA		0.711	MAGIX-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378832.1	NM_024859		A	49022721	G	A	49022721	3	1	777	1	0	0	0	0	1	0	0	0	9195	1117	39	1	1050	1	MAGIX	23	49022721	Missense_Mutation	SNP	G	TCGA-P4-AAVL-01A-11D-A42J-10		49022721	106247839	82	45976											
GABRQ	55879	hgsc.bcm.edu	37	X	151821371	151821371	+	Missense_Mutation	SNP	G	G	A			TCGA-P4-AAVL-01A-11D-A42J-10	TCGA-P4-AAVL-11A-11D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8b18e7e6-d0a7-4c8a-bfb9-9506aa7053e4	fb226698-844d-4a24-86c2-29571549b9bb	g.chrX:151821371G>A	ENST00000370306.2	+	9	1546	c.1526G>A	c.(1525-1527)cGc>cAc	p.R509H		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	509					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)	p.R509H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TCGGATGAGCGCCATGGCCAT	0.542																																																1	Substitution - Missense(1)	large_intestine(1)											79	68	71					X																	151821371		2203	4300	6503	SO:0001583	missense	55879			U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	14454	protein-coding gene	gene with protein product	"GABA(A) receptor, theta"	300349	"gamma-aminobutyric acid (GABA) receptor, theta"			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.1526G>A	chrX.hg19:g.151821371G>A	ENSP00000359329:p.Arg509His		A6NFN1|Q32MB4|Q9NZK8	Missense_Mutation	SNP	ENST00000370306.2	hg19	CCDS14707.1	.	.	.	.	.	.	.	.	.	.	G	9.142	1.013975	0.19277	.	.	ENSG00000147402	ENST00000370306	T	0.78707	-1.2	4.4	-0.308	0.12773	Neurotransmitter-gated ion-channel transmembrane domain (2);	4.416530	0.00424	N	0.000073	T	0.61173	0.2326	N	0.08118	0	0.09310	N	1	B	0.17038	0.02	B	0.09377	0.004	T	0.51585	-0.8687	10	0.44086	T	0.13	.	8.3332	0.32200	0.4021:0.0:0.5979:0.0	.	509	Q9UN88	GBRT_HUMAN	H	509	ENSP00000359329:R509H	ENSP00000359329:R509H	R	+	2	0	GABRQ	151572027	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-1.804000	0.01738	-0.229000	0.09854	-1.016000	0.02456	CGC		0.542	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058763.2	NM_018558		A	151821371	G	A	151821371	3	1	777	1	0	0	0	0	1	0	0	0	6177	1087	38	1	1560	1	GABRQ	23	151821371	Missense_Mutation	SNP	G	TCGA-P4-AAVL-01A-11D-A42J-10	102798650	151821371	3449189	83	45977											
TMEM201	199953	hgsc.bcm.edu	37	1	9658629	9658629	+	Silent	SNP	C	C	G			TCGA-P4-AAVM-01A-11D-A42J-10	TCGA-P4-AAVM-11A-11D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c5d3340-513d-4576-8298-848fee2f3edc	2e812561-7f51-41c5-bdb3-4861f646b630	g.chr1:9658629C>G	ENST00000340381.6	+	4	561	c.552C>G	c.(550-552)gcC>gcG	p.A184A	TMEM201_ENST00000377376.4_Silent_p.A184A|TMEM201_ENST00000340305.5_Silent_p.A184A	NM_001130924.2	NP_001124396.2	Q5SNT2	TM201_HUMAN	transmembrane protein 201	184					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)		AGCTGCGCGCCCTGTTGCTCA	0.642																																																0													55	51	52					1																	9658629		2203	4300	6503	SO:0001819	synonymous_variant	199953				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.552C>G	chr1.hg19:g.9658629C>G			B9EH90|Q5SNT3	Silent	SNP	ENST00000340381.6	hg19	CCDS44055.2	.	.	.	.	.	.	.	.	.	.	C	11.02	1.516596	0.27123	.	.	ENSG00000188807	ENST00000416541	.	.	.	5.4	-0.367	0.12541	.	.	.	.	.	T	0.39172	0.1068	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.29088	-1.0023	4	.	.	.	-28.101	0.3087	0.00285	0.2293:0.2578:0.2549:0.258	.	.	.	.	A	94	.	.	P	+	1	0	TMEM201	9581216	0.016000	0.18221	0.995000	0.50966	0.963000	0.63663	-1.022000	0.03611	0.267000	0.21916	-0.304000	0.09214	CCT		0.642	TMEM201-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127672.1	NM_001010866		G	9658629	C	G	9658629	2	3	778	1	0	0	0	0	0	0	0	1	16131	610	22	4		4	TMEM201	1	9658629	Silent	SNP	C	TCGA-P4-AAVM-01A-11D-A42J-10		9658629	239591992	1	45978											
KIF1B	23095	hgsc.bcm.edu	37	1	10420986	10420986	+	Splice_Site	SNP	G	G	A			TCGA-P4-AAVM-01A-11D-A42J-10	TCGA-P4-AAVM-11A-11D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c5d3340-513d-4576-8298-848fee2f3edc	2e812561-7f51-41c5-bdb3-4861f646b630	g.chr1:10420986G>A	ENST00000377086.1	+	39	4257		c.e39-1		KIF1B_ENST00000377081.1_Splice_Site|KIF1B_ENST00000263934.6_Splice_Site|KIF1B_ENST00000465635.1_Splice_Site			O60333	KIF1B_HUMAN	kinesin family member 1B						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)		TCTGACCTTAGGACCTTCTAC	0.468																																																0													186	151	163					1																	10420986		2203	4300	6503	SO:0001630	splice_region_variant	23095			AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"Kinesins", "Pleckstrin homology (PH) domain containing"	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.4056-1G>A	chr1.hg19:g.10420986G>A			A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Splice_Site	SNP	ENST00000377086.1	hg19		.	.	.	.	.	.	.	.	.	.	G	25.9	4.683014	0.88542	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	.	.	.	4.87	4.87	0.63330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.355	0.90355	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIF1B	10343573	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.809000	0.99208	2.394000	0.81467	0.491000	0.48974	.		0.468	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1		Intron	A	10420986	G	A	10420986	5	1	778	1	0	0	0	0	0	0	1	0	8286	1014	35	2	5548	2	KIF1B	1	10420986	Splice_Site	SNP	G	TCGA-P4-AAVM-01A-11D-A42J-10	762357	10420986	238829635	2	45979											
TMEM39B	55116	hgsc.bcm.edu	37	1	32560492	32560492	+	Silent	SNP	C	C	T			TCGA-P4-AAVM-01A-11D-A42J-10	TCGA-P4-AAVM-11A-11D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c5d3340-513d-4576-8298-848fee2f3edc	2e812561-7f51-41c5-bdb3-4861f646b630	g.chr1:32560492C>T	ENST00000336294.5	+	7	1181	c.1035C>T	c.(1033-1035)gaC>gaT	p.D345D	TMEM39B_ENST00000373634.4_Silent_p.D146D|TMEM39B_ENST00000487305.1_3'UTR|TMEM39B_ENST00000456834.2_3'UTR|TMEM39B_ENST00000427288.1_Silent_p.D230D	NM_018056.2	NP_060526.2	Q9GZU3	TM39B_HUMAN	transmembrane protein 39B	345						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GCTACTGTGACCTGCTGCACA	0.607																																																0													69	59	63					1																	32560492		2203	4300	6503	SO:0001819	synonymous_variant	55116			AL136695	CCDS351.2	1p35.1	2008-02-05			ENSG00000121775	ENSG00000121775			25510	protein-coding gene	gene with protein product						12477932	Standard	NM_018056		Approved	FLJ10315	uc010ogv.2	Q9GZU3	OTTHUMG00000004020	ENST00000336294.5:c.1035C>T	chr1.hg19:g.32560492C>T			B4DKN8|B4DQE6|B4DTN8|D3DPP4|Q6IA44	Silent	SNP	ENST00000336294.5	hg19	CCDS351.2																																																																																				0.607	TMEM39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011489.2	NM_018056		T	32560492	C	T	32560492	2	4	778	1	0	0	0	0	0	0	0	1	16167	506	18	2		2	TMEM39B	1	32560492	Silent	SNP	C	TCGA-P4-AAVM-01A-11D-A42J-10	22139506	32560492	216690129	3	45980											
ALX3	257	hgsc.bcm.edu	37	1	110607426	110607426	+	Missense_Mutation	SNP	C	C	A			TCGA-P4-AAVM-01A-11D-A42J-10	TCGA-P4-AAVM-11A-11D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c5d3340-513d-4576-8298-848fee2f3edc	2e812561-7f51-41c5-bdb3-4861f646b630	g.chr1:110607426C>A	ENST00000369792.4	-	2	464	c.377G>T	c.(376-378)gGc>gTc	p.G126V	RP4-773N10.4_ENST00000554749.1_RNA	NM_006492.2	NP_006483.2	O95076	ALX3_HUMAN	ALX homeobox 3	126					embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal system morphogenesis (GO:0048704)|pattern specification process (GO:0007389)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)		CAGGCAGGGGCCTGGGGAGCC	0.637																																																0													51	59	56					1																	110607426		2203	4300	6503	SO:0001583	missense	257			AF008203	CCDS819.1	1p13.3	2014-02-04	2008-11-04		ENSG00000156150	ENSG00000156150		"Homeoboxes / PRD class"	449	protein-coding gene	gene with protein product		606014	"aristaless-like homeobox 3", "frontonasal dysplasia"	FND		15226305, 11807986, 19409524	Standard	NM_006492		Approved		uc001dzb.3	O95076	OTTHUMG00000011650	ENST00000369792.4:c.377G>T	chr1.hg19:g.110607426C>A	ENSP00000358807:p.Gly126Val		O95075|Q5T8M4	Missense_Mutation	SNP	ENST00000369792.4	hg19	CCDS819.1	.	.	.	.	.	.	.	.	.	.	C	11.89	1.773631	0.31411	.	.	ENSG00000156150	ENST00000369792	D	0.92199	-2.99	4.04	1.77	0.24775	.	0.699687	0.12287	N	0.482336	T	0.71324	0.3326	N	0.19112	0.55	0.47584	D	0.999467	B	0.34372	0.451	B	0.31686	0.134	T	0.66594	-0.5884	10	0.30854	T	0.27	.	4.1379	0.10179	0.0:0.502:0.2576:0.2404	.	126	O95076	ALX3_HUMAN	V	126	ENSP00000358807:G126V	ENSP00000358807:G126V	G	-	2	0	ALX3	110408949	0.002000	0.14202	0.996000	0.52242	0.915000	0.54546	1.144000	0.31565	0.767000	0.33267	0.462000	0.41574	GGC		0.637	ALX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032232.2	NM_006492		A	110607426	C	A	110607426	3	1	778	1	0	0	0	0	1	0	0	0	557	739	26	4	666	4	ALX3	1	110607426	Missense_Mutation	SNP	C	TCGA-P4-AAVM-01A-11D-A42J-10	78046934	110607426	138643195	4	45981											
TCHH	7062	hgsc.bcm.edu	37	1	152084184	152084185	+	In_Frame_Ins	INS	-	-	CGCCTCTCCTGCTGCTCG			TCGA-P4-AAVM-01A-11D-A42J-10	TCGA-P4-AAVM-11A-11D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c5d3340-513d-4576-8298-848fee2f3edc	2e812561-7f51-41c5-bdb3-4861f646b630	g.chr1:152084184_152084185insCGCCTCTCCTGCTGCTCG	ENST00000368804.1	-	2	1507_1508	c.1508_1509insCGAGCAGCAGGAGAGGCG	c.(1507-1509)cgc>cgCGAGCAGCAGGAGAGGCGc	p.503_503R>REQQERR		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	503	9 X 28 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)			GTTGCTGCTCGCGCCTCTCCTG	0.663																																																0																																										SO:0001652	inframe_insertion	7062			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"EF-hand domain containing"	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.1491_1508dupCGAGCAGCAGGAGAGGCG	chr1.hg19:g.152084184_152084185insCGCCTCTCCTGCTGCTCG	ENSP00000357794:p.GluGlnGlnGluArgArg503dup		Q5VUI3	In_Frame_Ins	INS	ENST00000368804.1	hg19	CCDS41396.1																																																																																				0.663	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		CGCCTCTCCTGCTGCTCG	152084185	-	CGCCTCTCCTGCTGCTCG	152084184	7	5	778	1	0	1	1	0	0	0	0	0	15705	1074	38	0	4326	0	TCHH	1	152084184	In_Frame_Ins	INS	-	TCGA-P4-AAVM-01A-11D-A42J-10	41476758	152084184	97166437	5	45982											
ASH1L	55870	hgsc.bcm.edu	37	1	155308132	155308132	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P4-AAVM-01A-11D-A42J-10	TCGA-P4-AAVM-11A-11D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c5d3340-513d-4576-8298-848fee2f3edc	2e812561-7f51-41c5-bdb3-4861f646b630	g.chr1:155308132G>A	ENST00000368346.3	-	27	9205	c.8566C>T	c.(8566-8568)Cag>Tag	p.Q2856*	ASH1L_ENST00000392403.3_Nonsense_Mutation_p.Q2851*			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2856					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)			TCATCCTCCTGGCCCAAGTCT	0.517																																																0													92	90	90					1																	155308132		2203	4300	6503	SO:0001587	stop_gained	55870			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.8566C>T	chr1.hg19:g.155308132G>A	ENSP00000357330:p.Gln2856*		Q59GP1|Q5T714|Q5T715|Q9P2C7	Nonsense_Mutation	SNP	ENST00000368346.3	hg19		.	.	.	.	.	.	.	.	.	.	G	52	19.235170	0.99916	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	.	.	.	5.5	5.5	0.81552	.	0.135981	0.52532	D	0.000070	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	17.348	0.87315	0.0:0.0:1.0:0.0	.	.	.	.	X	2856;2851	.	ENSP00000357330:Q2856X	Q	-	1	0	ASH1L	153574756	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.039000	0.57325	2.861000	0.98227	0.655000	0.94253	CAG		0.517	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		A	155308132	G	A	155308132	4	1	778	1	0	0	0	0	0	1	0	0	1041	1357	47	2	351	2	ASH1L	1	155308132	Nonsense_Mutation	SNP	G	TCGA-P4-AAVM-01A-11D-A42J-10	3223948	155308132	93942489	6	45983											
CTSE	1510	hgsc.bcm.edu	37	1	206318340	206318340	+	Missense_Mutation	SNP	A	A	T			TCGA-P4-AAVM-01A-11D-A42J-10	TCGA-P4-AAVM-11A-11D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c5d3340-513d-4576-8298-848fee2f3edc	2e812561-7f51-41c5-bdb3-4861f646b630	g.chr1:206318340A>T	ENST00000358184.2	+	2	216	c.98A>T	c.(97-99)aAg>aTg	p.K33M	CTSE_ENST00000361052.3_Missense_Mutation_p.K33M|CTSE_ENST00000432969.2_Intron|CTSE_ENST00000360218.2_Missense_Mutation_p.K33M	NM_001910.3	NP_001901.1	P14091	CATE_HUMAN	cathepsin E	33					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|digestion (GO:0007586)|protein autoprocessing (GO:0016540)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			CCGTCCCTCAAGAAGAAGCTG	0.557																																																0													56	58	57					1																	206318340		2203	4300	6503	SO:0001583	missense	1510			BC042537	CCDS73012.1, CCDS73013.1	1q32.1	2008-02-05			ENSG00000196188	ENSG00000196188	3.4.23.5	"Cathepsins"	2530	protein-coding gene	gene with protein product		116890				2369841, 2674141	Standard	NM_001910		Approved		uc001hdu.3	P14091	OTTHUMG00000036121	ENST00000358184.2:c.98A>T	chr1.hg19:g.206318340A>T	ENSP00000350911:p.Lys33Met		Q5TZ01|Q5TZ02|Q9NY58|Q9UCE3|Q9UCE4	Missense_Mutation	SNP	ENST00000358184.2	hg19	CCDS1462.1	.	.	.	.	.	.	.	.	.	.	A	18.69	3.678705	0.68042	.	.	ENSG00000196188	ENST00000358184;ENST00000361052;ENST00000360218	T;T;T	0.41758	0.99;0.99;0.99	4.57	3.64	0.41730	.	0.213055	0.32503	N	0.006003	T	0.36744	0.0978	L	0.47190	1.495	0.80722	D	1	P;B	0.37864	0.61;0.381	B;B	0.37198	0.243;0.163	T	0.37009	-0.9724	10	0.87932	D	0	.	11.9121	0.52745	0.0883:0.0:0.9117:0.0	.	33;33	P14091-2;P14091-1	.;.	M	33	ENSP00000350911:K33M;ENSP00000354337:K33M;ENSP00000353350:K33M	ENSP00000350911:K33M	K	+	2	0	CTSE	204484963	0.986000	0.35501	1.000000	0.80357	0.735000	0.41995	4.968000	0.63728	1.270000	0.44297	-0.242000	0.12053	AAG		0.557	CTSE-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000087998.1	NM_001910		T	206318340	A	T	206318340	3	4	778	1	0	0	0	0	1	0	0	0	4035	72	3	5	104	5	CTSE	1	206318340	Missense_Mutation	SNP	A	TCGA-P4-AAVM-01A-11D-A42J-10	51010208	206318340	42932281	7	45984											
ALMS1	7840	hgsc.bcm.edu	37	2	73613036	73613037	+	Missense_Mutation	DNP	GA	GA	CT	rs61156725|rs72319667|rs3074417	byFrequency	TCGA-P4-AAVM-01A-11D-A42J-10	TCGA-P4-AAVM-11A-11D-A42M-10	G|A	G|A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c5d3340-513d-4576-8298-848fee2f3edc	2e812561-7f51-41c5-bdb3-4861f646b630	g.chr2:73613036_73613037GA>CT	ENST00000264448.6	+	1	151_152	c.40_41GA>CT	c.(40-42)GAg>CTg	p.E14L	ALMS1_ENST00000377715.1_Missense_Mutation_p.E14L|ALMS1_ENST00000409009.1_Missense_Mutation_p.E14L	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	14	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)		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						CGAGCTggaggaggaggaggag	0.693																																																1	Deletion - In frame(1)	ovary(1)																																								SO:0001583	missense	7840			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	Exception_encountered	chr2.hg19:g.73613036_73613037delinsCT	ENSP00000264448:p.Glu14Leu		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	hg19	CCDS42697.1																																																																																				0.693	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		CT	73613037	GA	CT	73613036	3	2	778	1	0	0	0	0	1	0	0	0	535	1175	41	4	42	4	ALMS1	2	73613036	Missense_Mutation	DNP	GA	TCGA-P4-AAVM-01A-11D-A42J-10		73613036	169586337	8	45985											
CCDC142	84865	hgsc.bcm.edu	37	2	74707970	74707970	+	Missense_Mutation	SNP	A	A	C			TCGA-P4-AAVM-01A-11D-A42J-10	TCGA-P4-AAVM-11A-11D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c5d3340-513d-4576-8298-848fee2f3edc	2e812561-7f51-41c5-bdb3-4861f646b630	g.chr2:74707970A>C	ENST00000393965.3	-	5	1825	c.1429T>G	c.(1429-1431)Tca>Gca	p.S477A	TTC31_ENST00000410003.1_5'Flank|TTC31_ENST00000233623.5_5'Flank|TTC31_ENST00000442235.2_5'Flank|CCDC142_ENST00000290418.4_Missense_Mutation_p.S470A|CCDC142_ENST00000471713.1_5'UTR	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	477										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						CTTTCCTCTGAGGCCAGGCTA	0.582																																																0													72	69	70					2																	74707970		2203	4300	6503	SO:0001583	missense	84865			AK075543	CCDS1945.1	2p13.1	2008-02-05			ENSG00000135637	ENSG00000135637			25889	protein-coding gene	gene with protein product							Standard	NM_032779		Approved	FLJ14397	uc002slq.3	Q17RM4	OTTHUMG00000129962	ENST00000393965.3:c.1429T>G	chr2.hg19:g.74707970A>C	ENSP00000377537:p.Ser477Ala		B7ZKV5|Q8NBJ3|Q8NBV2|Q96KA7	Missense_Mutation	SNP	ENST00000393965.3	hg19		.	.	.	.	.	.	.	.	.	.	A	18.39	3.612677	0.66672	.	.	ENSG00000135637	ENST00000393965;ENST00000290418	T;T	0.44482	0.92;0.92	4.17	4.17	0.49024	.	0.536281	0.15677	N	0.250095	T	0.55465	0.1922	M	0.72118	2.19	0.25148	N	0.990448	D;D;D	0.61697	0.99;0.975;0.99	P;P;P	0.58928	0.848;0.79;0.848	T	0.45381	-0.9265	10	0.37606	T	0.19	-2.1681	9.5608	0.39369	1.0:0.0:0.0:0.0	.	477;470;477	Q17RM4;Q17RM4-2;Q17RM4-3	CC142_HUMAN;.;.	A	477;470	ENSP00000377537:S477A;ENSP00000290418:S470A	ENSP00000290418:S470A	S	-	1	0	CCDC142	74561478	0.997000	0.39634	0.989000	0.46669	0.966000	0.64601	2.551000	0.45820	1.756000	0.51951	0.459000	0.35465	TCA		0.582	CCDC142-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000328391.1	NM_032779		C	74707970	A	C	74707970	3	2	778	1	0	0	0	0	1	0	0	0	2778	304	11	5	843	5	CCDC142	2	74707970	Missense_Mutation	SNP	A	TCGA-P4-AAVM-01A-11D-A42J-10	1094934	74707970	168491403	9	45986											
TGOLN2	10618	hgsc.bcm.edu	37	2	85554322	85554322	+	Missense_Mutation	SNP	A	A	T			TCGA-P4-AAVM-01A-11D-A42J-10	TCGA-P4-AAVM-11A-11D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c5d3340-513d-4576-8298-848fee2f3edc	2e812561-7f51-41c5-bdb3-4861f646b630	g.chr2:85554322A>T	ENST00000409232.3	-	2	594	c.533T>A	c.(532-534)gTc>gAc	p.V178D	TGOLN2_ENST00000282120.2_Missense_Mutation_p.V80D|TGOLN2_ENST00000377386.3_Missense_Mutation_p.V178D|TGOLN2_ENST00000409015.1_Missense_Mutation_p.V178D|TGOLN2_ENST00000398263.2_Missense_Mutation_p.V178D|TGOLN2_ENST00000444342.2_Missense_Mutation_p.V178D			O43493	TGON2_HUMAN	trans-golgi network protein 2	178	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)											CTTATTAGGGACATCTTTTGT	0.587																																																0													309	312	311					2																	85554322		1946	4141	6087	SO:0001583	missense	10618			AF027515	CCDS46351.1, CCDS56126.1, CCDS56127.1	2p11.2	2012-06-25			ENSG00000152291	ENSG00000152291			15450	protein-coding gene	gene with protein product	"trans-Golgi network protein (46, 48, 51kD isoforms)"	603062				9422759, 21994457	Standard	NM_001206840		Approved	TGN51, TGN46, TGN48, TGN38, TTGN2	uc021vjw.1	O43493	OTTHUMG00000153017	ENST00000409232.3:c.533T>A	chr2.hg19:g.85554322A>T	ENSP00000386443:p.Val178Asp		B2R686|B8ZZ88|D6W5K3|F8WBK2|O15282|O43492|O43499|O43500|O43501|Q53G68|Q53GV2|Q6MZV1|Q6ZTM7|Q8N6T8|Q92760|Q96QL2	Missense_Mutation	SNP	ENST00000409232.3	hg19	CCDS56126.1	.	.	.	.	.	.	.	.	.	.	A	0.015	-1.563265	0.00903	.	.	ENSG00000152291	ENST00000377386;ENST00000282120;ENST00000398263;ENST00000409232;ENST00000409015;ENST00000444342	T;T;T;T;T;T	0.11169	2.94;2.86;2.8;2.96;2.95;2.94	2.55	-5.11	0.02901	.	.	.	.	.	T	0.05456	0.0144	L	0.36672	1.1	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.0;0.001	T	0.37619	-0.9698	9	0.12430	T	0.62	0.0827	0.495	0.00570	0.3025:0.2571:0.2813:0.1592	.	178;178;178;178	O43493;O43493-5;O43493-4;O43493-2	TGON2_HUMAN;.;.;.	D	178;80;178;178;178;178	ENSP00000366603:V178D;ENSP00000282120:V80D;ENSP00000381312:V178D;ENSP00000386443:V178D;ENSP00000387035:V178D;ENSP00000391190:V178D	ENSP00000282120:V80D	V	-	2	0	TGOLN2	85407833	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-6.946000	0.00048	-3.971000	0.00086	-1.466000	0.01016	GTC		0.587	TGOLN2-006	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000329045.2	NM_006464		T	85554322	A	T	85554322	3	4	778	1	0	0	0	0	1	0	0	0	15841	275	10	5	792	5	TGOLN2	2	85554322	Missense_Mutation	SNP	A	TCGA-P4-AAVM-01A-11D-A42J-10	10846352	85554322	157645051	10	45987											
ACTR3	10096	hgsc.bcm.edu	37	2	114670788	114670788	+	Missense_Mutation	SNP	G	G	T			TCGA-P4-AAVM-01A-11D-A42J-10	TCGA-P4-AAVM-11A-11D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c5d3340-513d-4576-8298-848fee2f3edc	2e812561-7f51-41c5-bdb3-4861f646b630	g.chr2:114670788G>T	ENST00000263238.2	+	2	404	c.84G>T	c.(82-84)caG>caT	p.Q28H	ACTR3_ENST00000535589.2_5'UTR|ACTR3_ENST00000536059.1_Missense_Mutation_p.S8I	NM_001277140.1|NM_005721.3	NP_001264069.1|NP_005712.1	P61158	ARP3_HUMAN	ARP3 actin-related protein 3 homolog (yeast)	28					Arp2/3 complex-mediated actin nucleation (GO:0034314)|asymmetric cell division (GO:0008356)|cellular component movement (GO:0006928)|cilium morphogenesis (GO:0060271)|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)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neuron differentiation (GO:0045666)|regulation of myosin II filament organization (GO:0043519)|response to antibiotic (GO:0046677)|response to carbohydrate (GO:0009743)|spindle localization (GO:0051653)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|excitatory synapse (GO:0060076)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|hemidesmosome (GO:0030056)|lamellipodium (GO:0030027)|membrane (GO:0016020)|podosome (GO:0002102)	ATP binding (GO:0005524)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(2)	15						CAGAACCACAGTTTATCATCC	0.289																																																0													76	79	78					2																	114670788		2203	4296	6499	SO:0001583	missense	10096			AF006083	CCDS33277.1, CCDS63000.1	2q14.1	2010-07-20	2001-11-28		ENSG00000115091	ENSG00000115091			170	protein-coding gene	gene with protein product		604222	"ARP3 (actin-related protein 3, yeast) homolog"			9230079	Standard	NM_005721		Approved	ARP3	uc002tkx.2	P61158	OTTHUMG00000153497	ENST00000263238.2:c.84G>T	chr2.hg19:g.114670788G>T	ENSP00000263238:p.Gln28His		P32391|Q53QM2	Silent	SNP	ENST00000263238.2	hg19	CCDS33277.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.37|13.37	2.217984|2.217984	0.39201|0.39201	.|.	.|.	ENSG00000115091|ENSG00000115091	ENST00000263238|ENST00000536059	D|D	0.94497|0.97575	-3.44|-4.44	4.42|4.42	3.52|3.52	0.40303|0.40303	.|.	0.064264|.	0.64402|.	D|.	0.000005|.	D|D	0.95947|0.95947	0.8680|0.8680	M|M	0.69523|0.69523	2.12|2.12	0.80722|0.80722	D|D	1|1	D|P	0.56521|0.34977	0.976|0.478	D|B	0.63877|0.40636	0.919|0.335	D|D	0.95526|0.95526	0.8599|0.8599	10|9	0.72032|0.72032	D|D	0.01|0.01	.|.	8.005|8.005	0.30319|0.30319	0.2466:0.0:0.7534:0.0|0.2466:0.0:0.7534:0.0	.|.	28|8	P61158|F5H3P5	ARP3_HUMAN|.	H|I	28|8	ENSP00000263238:Q28H|ENSP00000445257:S8I	ENSP00000263238:Q28H|ENSP00000445257:S8I	Q|S	+|+	3|2	2|0	ACTR3|ACTR3	114387258|114387258	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	4.767000|4.767000	0.62286|0.62286	2.290000|2.290000	0.77057|0.77057	0.305000|0.305000	0.20034|0.20034	CAG|AGT		0.289	ACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331366.2	NM_005721		T	114670788	G	T	114670788	3	4	778	1	0	0	0	0	1	0	0	0	212	1020	36	4	90	4	ACTR3	2	114670788	Missense_Mutation	SNP	G	TCGA-P4-AAVM-01A-11D-A42J-10	29116466	114670788	128528585	11	45988											
OLA1	29789	hgsc.bcm.edu	37	2	174987981	174987981	+	Missense_Mutation	SNP	A	A	C			TCGA-P4-AAVM-01A-11D-A42J-10	TCGA-P4-AAVM-11A-11D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c5d3340-513d-4576-8298-848fee2f3edc	2e812561-7f51-41c5-bdb3-4861f646b630	g.chr2:174987981A>C	ENST00000409546.1	-	7	1345	c.715T>G	c.(715-717)Ttt>Gtt	p.F239V	OLA1_ENST00000284719.3_Missense_Mutation_p.F219V|OLA1_ENST00000428402.2_Missense_Mutation_p.F219V|OLA1_ENST00000392560.2_5'UTR|OLA1_ENST00000344357.5_Missense_Mutation_p.F61V					Obg-like ATPase 1											breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						GAAGTCAAAAATAAGTGTTTA	0.308																																																0													48	49	49					2																	174987981		2201	4296	6497	SO:0001583	missense	29789				CCDS2255.1, CCDS42779.1	2q31.1	2014-06-24	2007-07-27	2007-07-27	ENSG00000138430	ENSG00000138430			28833	protein-coding gene	gene with protein product		611175	"GTP-binding protein 9 (putative)"	GTPBP9		17430889, 24486488	Standard	NM_013341		Approved	PTD004	uc002uih.3	Q9NTK5	OTTHUMG00000132335	ENST00000409546.1:c.715T>G	chr2.hg19:g.174987981A>C	ENSP00000386350:p.Phe239Val			Missense_Mutation	SNP	ENST00000409546.1	hg19		.	.	.	.	.	.	.	.	.	.	A	21.0	4.083112	0.76642	.	.	ENSG00000138430	ENST00000284719;ENST00000344357;ENST00000428402;ENST00000409546;ENST00000429575	T;T;T;T	0.45668	2.32;2.32;0.89;2.32	5.71	4.52	0.55395	.	0.047967	0.85682	D	0.000000	T	0.63058	0.2479	M	0.85373	2.75	0.80722	D	1	P;P;P;P	0.51791	0.948;0.854;0.885;0.854	P;P;P;P	0.59012	0.786;0.85;0.83;0.85	T	0.68032	-0.5516	10	0.87932	D	0	.	11.9033	0.52697	0.931:0.0:0.069:0.0	.	219;219;61;219	Q9NTK5-3;D7EHM2;Q9NTK5-2;Q9NTK5	.;.;.;OLA1_HUMAN	V	219;61;219;239;61	ENSP00000284719:F219V;ENSP00000340167:F61V;ENSP00000410385:F219V;ENSP00000386350:F239V	ENSP00000284719:F219V	F	-	1	0	OLA1	174696227	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.906000	0.63293	0.944000	0.37579	0.528000	0.53228	TTT		0.308	OLA1-003	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000333877.1	NM_013341		C	174987981	A	C	174987981	3	2	778	1	0	0	0	0	1	0	0	0	10852	101	4	5	555	5	OLA1	2	174987981	Missense_Mutation	SNP	A	TCGA-P4-AAVM-01A-11D-A42J-10	60317193	174987981	68211392	12	45989											
MYO1B	4430	hgsc.bcm.edu	37	2	192227007	192227007	+	Silent	SNP	T	T	C			TCGA-P4-AAVM-01A-11D-A42J-10	TCGA-P4-AAVM-11A-11D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c5d3340-513d-4576-8298-848fee2f3edc	2e812561-7f51-41c5-bdb3-4861f646b630	g.chr2:192227007T>C	ENST00000392318.3	+	9	922	c.675T>C	c.(673-675)ctT>ctC	p.L225L	MYO1B_ENST00000304164.4_Silent_p.L225L|MYO1B_ENST00000392316.1_Silent_p.L225L|MYO1B_ENST00000339514.4_Silent_p.L225L	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	225	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)			AACTTAAGCTTGAGAGGGATT	0.378																																																0													112	111	111					2																	192227007		2203	4300	6503	SO:0001819	synonymous_variant	4430			L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"Myosins / Myosin superfamily : Class I"	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.675T>C	chr2.hg19:g.192227007T>C			O43794|Q7Z6L5	Silent	SNP	ENST00000392318.3	hg19	CCDS46477.1																																																																																				0.378	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	NM_012223		C	192227007	T	C	192227007	2	2	778	1	0	0	0	0	0	0	0	1	10071	1799	63	3		3	MYO1B	2	192227007	Silent	SNP	T	TCGA-P4-AAVM-01A-11D-A42J-10	17239026	192227007	50972366	13	45990											
WNT7A	7476	hgsc.bcm.edu	37	3	13860792	13860792	+	Silent	SNP	G	G	A			TCGA-P4-AAVM-01A-11D-A42J-10	TCGA-P4-AAVM-11A-11D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c5d3340-513d-4576-8298-848fee2f3edc	2e812561-7f51-41c5-bdb3-4861f646b630	g.chr3:13860792G>A	ENST00000285018.4	-	4	1003	c.699C>T	c.(697-699)aaC>aaT	p.N233N		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	233					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						GAACGGCCTCGTTGTACTTGT	0.612																																																0													108	100	103					3																	13860792		2203	4300	6503	SO:0001819	synonymous_variant	7476			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.699C>T	chr3.hg19:g.13860792G>A			Q96H90|Q9Y560	Silent	SNP	ENST00000285018.4	hg19	CCDS2616.1																																																																																				0.612	WNT7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252031.2	NM_004625		A	13860792	G	A	13860792	2	1	778	1	0	0	0	0	0	0	0	1	17399	1136	40	1		1	WNT7A	3	13860792	Silent	SNP	G	TCGA-P4-AAVM-01A-11D-A42J-10		13860792	184161638	14	45991											
ARGFX	503582	hgsc.bcm.edu	37	3	121289566	121289566	+	Silent	SNP	G	G	A			TCGA-P4-AAVM-01A-11D-A42J-10	TCGA-P4-AAVM-11A-11D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c5d3340-513d-4576-8298-848fee2f3edc	2e812561-7f51-41c5-bdb3-4861f646b630	g.chr3:121289566G>A	ENST00000334384.3	+	1	16	c.6G>A	c.(4-6)agG>agA	p.R2R		NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN	arginine-fifty homeobox	2					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		AAACCATGAGGAACAGAATGG	0.473																																																0													76	77	76					3																	121289566		2203	4300	6503	SO:0001819	synonymous_variant	503582				CCDS33834.1	3q13.33	2011-06-20			ENSG00000186103	ENSG00000186103		"Homeoboxes / PRD class"	30146	protein-coding gene	gene with protein product		611164					Standard	XM_005247505		Approved		uc003eef.3	A6NJG6	OTTHUMG00000159395	ENST00000334384.3:c.6G>A	chr3.hg19:g.121289566G>A				Silent	SNP	ENST00000334384.3	hg19	CCDS33834.1																																																																																				0.473	ARGFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355096.2	NM_001012659		A	121289566	G	A	121289566	2	1	778	1	0	0	0	0	0	0	0	1	859	1165	41	2		2	ARGFX	3	121289566	Silent	SNP	G	TCGA-P4-AAVM-01A-11D-A42J-10	107428774	121289566	76732864	15	45992											
SI	6476	hgsc.bcm.edu	37	3	164783068	164783068	+	Missense_Mutation	SNP	C	C	T	rs143135955		TCGA-P4-AAVM-01A-11D-A42J-10	TCGA-P4-AAVM-11A-11D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c5d3340-513d-4576-8298-848fee2f3edc	2e812561-7f51-41c5-bdb3-4861f646b630	g.chr3:164783068C>T	ENST00000264382.3	-	7	850	c.788G>A	c.(787-789)cGa>cAa	p.R263Q		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	263	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)	AAGTTGGTCTCGAGTAAAAAT	0.318										HNSCC(35;0.089)																																						0								C	GLN/ARG	0,4406		0,0,2203	68	67	67		788	5.9	1	3	dbSNP_134	67	1,8599	1.2+/-3.3	0,1,4299	no	missense	SI	NM_001041.3	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	263/1828	164783068	1,13005	2203	4300	6503	SO:0001583	missense	6476			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"Oligosaccharide alpha-1,6-glucosidase"	609845	"sucrase-isomaltase"			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.788G>A	chr3.hg19:g.164783068C>T	ENSP00000264382:p.Arg263Gln		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	hg19	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	33	5.220283	0.95139	0.0	1.16E-4	ENSG00000090402	ENST00000264382	D	0.86164	-2.08	5.9	5.9	0.94986	Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.85682	D	0.000000	D	0.95436	0.8518	M	0.92649	3.33	0.54753	D	0.999981	D	0.89917	1.0	D	0.81914	0.995	D	0.95695	0.8744	10	0.87932	D	0	.	20.2789	0.98501	0.0:1.0:0.0:0.0	.	263	P14410	SUIS_HUMAN	Q	263	ENSP00000264382:R263Q	ENSP00000264382:R263Q	R	-	2	0	SI	166265762	1.000000	0.71417	0.994000	0.49952	0.882000	0.50991	5.545000	0.67237	2.788000	0.95919	0.650000	0.86243	CGA		0.318	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		T	164783068	C	T	164783068	3	4	778	1	0	0	0	0	1	0	0	0	14303	884	31	1	4863	1	SI	3	164783068	Missense_Mutation	SNP	C	TCGA-P4-AAVM-01A-11D-A42J-10	43493502	164783068	33239362	16	45993											
SEC24D	9871	hgsc.bcm.edu	37	4	119674015	119674015	+	Missense_Mutation	SNP	G	G	C			TCGA-P4-AAVM-01A-11D-A42J-10	TCGA-P4-AAVM-11A-11D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c5d3340-513d-4576-8298-848fee2f3edc	2e812561-7f51-41c5-bdb3-4861f646b630	g.chr4:119674015G>C	ENST00000280551.6	-	12	1688	c.1450C>G	c.(1450-1452)Cga>Gga	p.R484G	SEC24D_ENST00000419654.2_Missense_Mutation_p.R40G|SEC24D_ENST00000505134.1_5'UTR|SEC24D_ENST00000511481.1_Missense_Mutation_p.R115G|SEC24D_ENST00000429811.2_Missense_Mutation_p.R40G|SEC24D_ENST00000379735.5_Missense_Mutation_p.R485G			O94855	SC24D_HUMAN	SEC24 family member D	484					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						AAACCCACTCGAATTGCAGAC	0.373																																																0													73	75	74					4																	119674015		2203	4300	6503	SO:0001583	missense	9871			AB018298	CCDS3710.1	4q26	2013-10-21	2013-10-21		ENSG00000150961	ENSG00000150961			10706	protein-coding gene	gene with protein product		607186	"SEC24 (S. cerevisiae) related gene family, member D", "SEC24 family, member D (S. cerevisiae)"			9872452, 10075675	Standard	NM_014822		Approved	KIAA0755	uc003ici.4	O94855	OTTHUMG00000132957	ENST00000280551.6:c.1450C>G	chr4.hg19:g.119674015G>C	ENSP00000280551:p.Arg484Gly		Q8IYI7	Missense_Mutation	SNP	ENST00000280551.6	hg19	CCDS3710.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.683714	0.88639	.	.	ENSG00000150961	ENST00000280551;ENST00000379735;ENST00000429811;ENST00000511481;ENST00000419654	T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63	5.34	5.34	0.76211	Sec23/Sec24, trunk domain (1);	0.061247	0.64402	D	0.000007	T	0.76608	0.4011	M	0.93106	3.38	0.58432	D	0.99999	D;D	0.63880	0.989;0.993	D;D	0.68353	0.91;0.957	T	0.82948	-0.0204	10	0.87932	D	0	-15.9984	19.0321	0.92961	0.0:0.0:1.0:0.0	.	485;484	O94855-2;O94855	.;SC24D_HUMAN	G	484;485;40;115;40	ENSP00000280551:R484G;ENSP00000369059:R485G;ENSP00000409775:R40G;ENSP00000425491:R115G;ENSP00000388324:R40G	ENSP00000280551:R484G	R	-	1	2	SEC24D	119893463	1.000000	0.71417	0.950000	0.38849	0.959000	0.62525	5.727000	0.68523	2.494000	0.84150	0.467000	0.42956	CGA		0.373	SEC24D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256514.4			C	119674015	G	C	119674015	3	2	778	1	0	0	0	0	1	0	0	0	14003	1066	37	4	1696	4	SEC24D	4	119674015	Missense_Mutation	SNP	G	TCGA-P4-AAVM-01A-11D-A42J-10		119674015	71480261	17	45994											
UFSP2	55325	hgsc.bcm.edu	37	4	186324652	186324652	+	Missense_Mutation	SNP	T	T	C			TCGA-P4-AAVM-01A-11D-A42J-10	TCGA-P4-AAVM-11A-11D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c5d3340-513d-4576-8298-848fee2f3edc	2e812561-7f51-41c5-bdb3-4861f646b630	g.chr4:186324652T>C	ENST00000264689.6	-	11	1435	c.1319A>G	c.(1318-1320)gAa>gGa	p.E440G		NM_018359.3	NP_060829.2	Q9NUQ7	UFSP2_HUMAN	UFM1-specific peptidase 2	440						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	small conjugating protein-specific protease activity (GO:0019783)|thiolester hydrolase activity (GO:0016790)			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		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;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)		ACTTACCTTTTCCAAAATAAC	0.383																																																0													95	88	90					4																	186324652		2203	4300	6503	SO:0001583	missense	55325			AK002062	CCDS3842.1	4q35.1	2008-03-25	2008-03-25	2008-03-25	ENSG00000109775	ENSG00000109775			25640	protein-coding gene	gene with protein product		611482	"chromosome 4 open reading frame 20"	C4orf20		17182609	Standard	NM_018359		Approved	FLJ11200	uc003ixo.2	Q9NUQ7	OTTHUMG00000160441	ENST00000264689.6:c.1319A>G	chr4.hg19:g.186324652T>C	ENSP00000264689:p.Glu440Gly		Q6IA77|Q96FS3	Missense_Mutation	SNP	ENST00000264689.6	hg19	CCDS3842.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.38|14.38	2.517213|2.517213	0.44763|0.44763	.|.	.|.	ENSG00000109775|ENSG00000109775	ENST00000264689|ENST00000509180	T|.	0.32988|.	1.43|.	5.92|5.92	4.75|4.75	0.60458|0.60458	.|.	0.190483|.	0.56097|.	N|.	0.000030|.	T|T	0.54695|0.54695	0.1874|0.1874	L|L	0.38953|0.38953	1.18|1.18	0.53688|0.53688	D|D	0.999975|0.999975	B;B|.	0.16396|.	0.003;0.017|.	B;B|.	0.16289|.	0.015;0.007|.	T|T	0.49634|0.49634	-0.8919|-0.8919	10|5	0.45353|.	T|.	0.12|.	-22.9056|-22.9056	11.7184|11.7184	0.51668|0.51668	0.0:0.0684:0.0:0.9316|0.0:0.0684:0.0:0.9316	.|.	440;340|.	Q9NUQ7;B3KRI4|.	UFSP2_HUMAN;.|.	G|E	440|169	ENSP00000264689:E440G|.	ENSP00000264689:E440G|.	E|K	-|-	2|1	0|0	UFSP2|UFSP2	186561646|186561646	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.910000|0.910000	0.53928|0.53928	7.688000|7.688000	0.84153|0.84153	1.073000|1.073000	0.40885|0.40885	0.533000|0.533000	0.62120|0.62120	GAA|AAA		0.383	UFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360589.2	NM_018359		C	186324652	T	C	186324652	3	2	778	1	0	0	0	0	1	0	0	0	16943	1783	62	3	98	3	UFSP2	4	186324652	Missense_Mutation	SNP	T	TCGA-P4-AAVM-01A-11D-A42J-10	66650637	186324652	4829624	18	45995											
ANKRA2	57763	hgsc.bcm.edu	37	5	72857114	72857114	+	Splice_Site	SNP	C	C	T			TCGA-P4-AAVM-01A-11D-A42J-10	TCGA-P4-AAVM-11A-11D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c5d3340-513d-4576-8298-848fee2f3edc	2e812561-7f51-41c5-bdb3-4861f646b630	g.chr5:72857114C>T	ENST00000296785.3	-	3	948		c.e3-1			NM_023039.4	NP_075526.1	Q9H9E1	ANRA2_HUMAN	ankyrin repeat, family A (RFXANK-like), 2							cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	low-density lipoprotein particle binding (GO:0030169)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		Lung NSC(167;0.0378)|Ovarian(174;0.0908)		OV - Ovarian serous cystadenocarcinoma(47;3.71e-54)		TTGCATTCAGCTAAGTGAAAA	0.358																																																0													138	120	126					5																	72857114		2203	4300	6503	SO:0001630	splice_region_variant	57763			AA442702	CCDS4020.1	5q12-q13	2013-01-10			ENSG00000164331	ENSG00000164331		"Ankyrin repeat domain containing"	13208	protein-coding gene	gene with protein product		605787				10965114	Standard	NM_023039		Approved		uc003kcu.2	Q9H9E1	OTTHUMG00000102030	ENST00000296785.3:c.290-1G>A	chr5.hg19:g.72857114C>T				Splice_Site	SNP	ENST00000296785.3	hg19	CCDS4020.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.843321	0.51057	.	.	ENSG00000164331	ENST00000296785	.	.	.	4.84	4.84	0.62591	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0124	0.89227	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANKRA2	72892870	1.000000	0.71417	0.998000	0.56505	0.613000	0.37349	7.423000	0.80229	2.246000	0.74042	0.449000	0.29647	.		0.358	ANKRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219814.2	NM_023039	Intron	T	72857114	C	T	72857114	5	4	778	1	0	0	0	0	0	0	1	0	636	811	28	2	680	2	ANKRA2	5	72857114	Splice_Site	SNP	C	TCGA-P4-AAVM-01A-11D-A42J-10		72857114	108058146	19	45996											
ANKRD34B	340120	hgsc.bcm.edu	37	5	79854309	79854309	+	Missense_Mutation	SNP	T	T	G			TCGA-P4-AAVM-01A-11D-A42J-10	TCGA-P4-AAVM-11A-11D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c5d3340-513d-4576-8298-848fee2f3edc	2e812561-7f51-41c5-bdb3-4861f646b630	g.chr5:79854309T>G	ENST00000338682.3	-	5	2202	c.1530A>C	c.(1528-1530)caA>caC	p.Q510H		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	510						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)		AGTTTACTAATTGCTTAATTT	0.299																																																0													50	52	51					5																	79854309		2203	4298	6501	SO:0001583	missense	340120				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.1530A>C	chr5.hg19:g.79854309T>G	ENSP00000339802:p.Gln510His		B2RPH1|Q68D79	Missense_Mutation	SNP	ENST00000338682.3	hg19	CCDS34194.1	.	.	.	.	.	.	.	.	.	.	T	17.15	3.317196	0.60524	.	.	ENSG00000189127	ENST00000338682	T	0.21361	2.01	6.04	-2.62	0.06152	.	0.000000	0.64402	D	0.000004	T	0.42539	0.1207	M	0.77313	2.365	0.47037	D	0.999297	D	0.89917	1.0	D	0.87578	0.998	T	0.46190	-0.9209	10	0.56958	D	0.05	-16.413	14.2293	0.65879	0.0:0.5749:0.0:0.4251	.	510	A5PLL1	AN34B_HUMAN	H	510	ENSP00000339802:Q510H	ENSP00000339802:Q510H	Q	-	3	2	ANKRD34B	79890065	0.773000	0.28580	0.961000	0.40146	0.903000	0.53119	-0.065000	0.11617	-0.344000	0.08338	0.460000	0.39030	CAA		0.299	ANKRD34B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369475.1	NM_001004441		G	79854309	T	G	79854309	3	3	778	1	0	0	0	0	1	0	0	0	663	1490	52	5	18	5	ANKRD34B	5	79854309	Missense_Mutation	SNP	T	TCGA-P4-AAVM-01A-11D-A42J-10	6997195	79854309	101060951	20	45997											
PARK2	5071	hgsc.bcm.edu	37	6	162864397	162864398	+	Missense_Mutation	DNP	TC	TC	AT			TCGA-P4-AAVM-01A-11D-A42J-10	TCGA-P4-AAVM-11A-11D-A42M-10	T|C	T|C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c5d3340-513d-4576-8298-848fee2f3edc	2e812561-7f51-41c5-bdb3-4861f646b630	g.chr6:162864397_162864398TC>AT	ENST00000366898.1	-	2	217_218	c.115_116GA>AT	c.(115-117)GAc>ATc	p.D39I	PARK2_ENST00000366897.1_Missense_Mutation_p.D39I|PARK2_ENST00000366892.1_Missense_Mutation_p.D39I|PARK2_ENST00000366894.1_5'UTR|PARK2_ENST00000338468.3_5'UTR|PARK2_ENST00000366896.1_Missense_Mutation_p.D39I	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	39	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				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)		ACGCAACTGGTCAGCCGGAACC	0.579																																																0																																										SO:0001583	missense	5071				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.115_116delinsAT	chr6.hg19:g.162864397_162864398delinsAT	ENSP00000355865:p.Asp39Ile		A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Missense_Mutation	SNP	ENST00000366898.1	hg19	CCDS5281.1																																																																																				0.579	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042995.1			AT	162864398	TC	AT	162864397	3	1	778	1	0	0	0	0	1	0	0	0	11451	1667	58	5	1325	5	PARK2	6	162864397	Missense_Mutation	DNP	TC	TCGA-P4-AAVM-01A-11D-A42J-10		162864397	8250670	21	45998											
DBNL	28988	hgsc.bcm.edu	37	7	44091488	44091488	+	Missense_Mutation	SNP	T	T	A			TCGA-P4-AAVM-01A-11D-A42J-10	TCGA-P4-AAVM-11A-11D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c5d3340-513d-4576-8298-848fee2f3edc	2e812561-7f51-41c5-bdb3-4861f646b630	g.chr7:44091488T>A	ENST00000448521.1	+	3	297	c.199T>A	c.(199-201)Tgc>Agc	p.C67S	DBNL_ENST00000440166.1_Intron|DBNL_ENST00000494774.1_Missense_Mutation_p.C67S|DBNL_ENST00000468694.1_Missense_Mutation_p.C67S|DBNL_ENST00000497184.1_3'UTR|DBNL_ENST00000456905.1_Missense_Mutation_p.C67S|DBNL_ENST00000490734.2_Intron|DBNL_ENST00000452943.1_Missense_Mutation_p.C67S	NM_001014436.2	NP_001014436.1	Q9UJU6	DBNL_HUMAN	drebrin-like	67	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				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						GTACGCCTTCTGCAGAGTGAA	0.562																																					NSCLC(68;573 1327 18604 34760 37992)											0													181	149	160					7																	44091488		2203	4300	6503	SO:0001583	missense	28988			AF151364	CCDS34622.1, CCDS34623.1, CCDS47579.1, CCDS64633.1, CCDS64634.1	7p13	2004-07-22			ENSG00000136279	ENSG00000136279			2696	protein-coding gene	gene with protein product		610106				10087302	Standard	NM_014063		Approved	SH3P7, HIP-55	uc003tjq.4	Q9UJU6	OTTHUMG00000155350	ENST00000448521.1:c.199T>A	chr7.hg19:g.44091488T>A	ENSP00000411701:p.Cys67Ser		A4D2I9|B4DEM2|C9J7P1|P84070|Q6IAI8|Q96F30|Q96K74|Q9HBN8|Q9NR72	Missense_Mutation	SNP	ENST00000448521.1	hg19	CCDS34623.1	.	.	.	.	.	.	.	.	.	.	T	28.6	4.931604	0.92389	.	.	ENSG00000136279	ENST00000448521;ENST00000456905;ENST00000452943;ENST00000468694;ENST00000494774	T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3	5.15	5.15	0.70609	Actin-binding, cofilin/tropomyosin type (3);	0.000000	0.85682	D	0.000000	T	0.64305	0.2586	M	0.84846	2.72	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.999;0.999;0.999;1.0;0.999	T	0.71328	-0.4626	10	0.87932	D	0	-34.7951	14.6984	0.69139	0.0:0.0:0.0:1.0	.	15;67;67;67;67;67	B4DXL9;B4DDP6;B4DDD6;Q9UJU6-3;Q9UJU6;Q9UJU6-2	.;.;.;.;DBNL_HUMAN;.	S	67	ENSP00000411701:C67S;ENSP00000416421:C67S;ENSP00000405343:C67S;ENSP00000417653:C67S;ENSP00000419992:C67S	ENSP00000411701:C67S	C	+	1	0	DBNL	44058013	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.864000	0.87037	1.955000	0.56771	0.529000	0.55759	TGC		0.562	DBNL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339572.2	NM_014063		A	44091488	T	A	44091488	3	1	778	1	0	0	0	0	1	0	0	0	4257	1580	55	5	209	5	DBNL	7	44091488	Missense_Mutation	SNP	T	TCGA-P4-AAVM-01A-11D-A42J-10		44091488	115047175	22	45999											
TNS3	64759	hgsc.bcm.edu	37	7	47342974	47342974	+	Missense_Mutation	SNP	G	G	C			TCGA-P4-AAVM-01A-11D-A42J-10	TCGA-P4-AAVM-11A-11D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c5d3340-513d-4576-8298-848fee2f3edc	2e812561-7f51-41c5-bdb3-4861f646b630	g.chr7:47342974G>C	ENST00000398879.1	-	22	3397	c.3031C>G	c.(3031-3033)Ctg>Gtg	p.L1011V	TNS3_ENST00000311160.9_Missense_Mutation_p.L1011V|TNS3_ENST00000355730.3_Missense_Mutation_p.L771V			Q68CZ2	TENS3_HUMAN	tensin 3	1011					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						GGAGGCGCCAGGGAGTCCGGT	0.672																																																0													20	24	23					7																	47342974		1966	4140	6106	SO:0001583	missense	64759			AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"SH2 domain containing"	21616	protein-coding gene	gene with protein product	"tumor endothelial marker 6"	606825	"tensin-like SH2 domain-containing 1"	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.3031C>G	chr7.hg19:g.47342974G>C	ENSP00000381854:p.Leu1011Val		B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	ENST00000398879.1	hg19	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	G	1.723	-0.496178	0.04291	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000355730;ENST00000545849;ENST00000457718	D;D;D;D	0.93811	-2.85;-2.85;-3.29;-3.0	5.44	1.6	0.23607	.	0.463335	0.18586	N	0.136878	D	0.84032	0.5383	L	0.34521	1.04	0.09310	N	0.999999	B	0.32573	0.376	B	0.27380	0.079	T	0.70730	-0.4792	10	0.18276	T	0.48	-13.2243	3.4749	0.07581	0.2793:0.0:0.5416:0.1791	.	1011	Q68CZ2	TENS3_HUMAN	V	1011;1121;1011;771;467;1114	ENSP00000312143:L1011V;ENSP00000381854:L1011V;ENSP00000347968:L771V;ENSP00000414358:L1114V	ENSP00000312143:L1011V	L	-	1	2	TNS3	47309499	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	0.334000	0.19787	0.263000	0.21812	0.555000	0.69702	CTG		0.672	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748		C	47342974	G	C	47342974	3	2	778	1	0	0	0	0	1	0	0	0	16349	991	35	4	1346	4	TNS3	7	47342974	Missense_Mutation	SNP	G	TCGA-P4-AAVM-01A-11D-A42J-10	3251486	47342974	111795689	23	46000											
ABCA13	154664	hgsc.bcm.edu	37	7	48390271	48390271	+	Silent	SNP	A	A	T			TCGA-P4-AAVM-01A-11D-A42J-10	TCGA-P4-AAVM-11A-11D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c5d3340-513d-4576-8298-848fee2f3edc	2e812561-7f51-41c5-bdb3-4861f646b630	g.chr7:48390271A>T	ENST00000435803.1	+	30	10260	c.10236A>T	c.(10234-10236)gcA>gcT	p.A3412A		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3412					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						TTAACCATGCAGGCGCTGGAC	0.522																																																0													154	155	154					7																	48390271		2051	4211	6262	SO:0001819	synonymous_variant	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.10236A>T	chr7.hg19:g.48390271A>T			K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	hg19	CCDS47584.1																																																																																				0.522	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		T	48390271	A	T	48390271	2	4	778	1	0	0	0	0	0	0	0	1	31	175	7	5		5	ABCA13	7	48390271	Silent	SNP	A	TCGA-P4-AAVM-01A-11D-A42J-10	1047297	48390271	110748392	24	46001											
PPP2CB	5516	hgsc.bcm.edu	37	8	30651547	30651547	+	Silent	SNP	T	T	A			TCGA-P4-AAVM-01A-11D-A42J-10	TCGA-P4-AAVM-11A-11D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c5d3340-513d-4576-8298-848fee2f3edc	2e812561-7f51-41c5-bdb3-4861f646b630	g.chr8:30651547T>A	ENST00000221138.4	-	5	1074	c.624A>T	c.(622-624)ggA>ggT	p.G208G	PPP2CB_ENST00000518564.1_Intron	NM_001009552.1	NP_001009552.1	P62714	PP2AB_HUMAN	protein phosphatase 2, catalytic subunit, beta isozyme	208					apoptotic mitochondrial changes (GO:0008637)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of Ras protein signal transduction (GO:0046580)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|regulation of gene expression (GO:0010468)|response to antibiotic (GO:0046677)|response to endoplasmic reticulum stress (GO:0034976)|response to hydrogen peroxide (GO:0042542)	chromosome, centromeric region (GO:0000775)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	9				KIRC - Kidney renal clear cell carcinoma(542;0.095)|Kidney(114;0.114)	Vitamin E(DB00163)	AAATACCCCATCCACCACGAT	0.438																																																0													72	56	62					8																	30651547		2203	4300	6503	SO:0001819	synonymous_variant	5516				CCDS6079.1	8p12	2011-05-24	2010-03-05		ENSG00000104695	ENSG00000104695	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9300	protein-coding gene	gene with protein product	"protein phosphatase 2A catalytic subunit, beta isoform"	176916	"protein phosphatase 2 (formerly 2A), catalytic subunit, beta isoform"			8383590	Standard	NM_001009552		Approved	PP2Abeta	uc003xik.3	P62714	OTTHUMG00000163949	ENST00000221138.4:c.624A>T	chr8.hg19:g.30651547T>A			D3DSV4|P11082|Q6FHK5	Silent	SNP	ENST00000221138.4	hg19	CCDS6079.1																																																																																				0.438	PPP2CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376527.2	NM_001009552		A	30651547	T	A	30651547	2	1	778	1	0	0	0	0	0	0	0	1	12386	1422	50	5		5	PPP2CB	8	30651547	Silent	SNP	T	TCGA-P4-AAVM-01A-11D-A42J-10		30651547	115712475	25	46002											
PLEKHF2	79666	hgsc.bcm.edu	37	8	96167020	96167020	+	Nonstop_Mutation	SNP	T	T	A			TCGA-P4-AAVM-01A-11D-A42J-10	TCGA-P4-AAVM-11A-11D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c5d3340-513d-4576-8298-848fee2f3edc	2e812561-7f51-41c5-bdb3-4861f646b630	g.chr8:96167020T>A	ENST00000315367.3	+	2	989	c.748T>A	c.(748-750)Taa>Aaa	p.*250K	PLEKHF2_ENST00000519516.1_Nonstop_Mutation_p.*250K	NM_024613.3	NP_078889.1	Q9H8W4	PKHF2_HUMAN	pleckstrin homology domain containing, family F (with FYVE domain) member 2	0					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|membrane (GO:0016020)|transport vesicle (GO:0030133)	metal ion binding (GO:0046872)			breast(1)|large_intestine(1)|lung(1)|ovary(2)	5	Breast(36;3.18e-05)					TAGCAGTGACTAAGGACACAT	0.428																																																0													63	61	62					8																	96167020		2203	4300	6503	SO:0001578	stop_lost	79666			AF434819	CCDS6267.1	8q22.1	2013-01-10				ENSG00000175895		"Zinc fingers, FYVE domain containing", "Pleckstrin homology (PH) domain containing"	20757	protein-coding gene	gene with protein product		615208					Standard	NM_024613		Approved	ZFYVE18, PHAFIN2, FLJ13187	uc003yhn.2	Q9H8W4		ENST00000315367.3:c.748T>A	chr8.hg19:g.96167020T>A	ENSP00000322373:p.*250Lysext*32			Missense_Mutation	SNP	ENST00000315367.3	hg19	CCDS6267.1	.	.	.	.	.	.	.	.	.	.	T	16.74	3.206693	0.58343	.	.	ENSG00000175895	ENST00000315367;ENST00000519516	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8061	0.85666	0.0:0.0:0.0:1.0	.	.	.	.	K	250	.	.	X	+	1	0	PLEKHF2	96236196	1.000000	0.71417	0.999000	0.59377	0.770000	0.43624	7.385000	0.79763	2.367000	0.80283	0.528000	0.53228	TAA		0.428	PLEKHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379666.1	NM_024613		A	96167020	T	A	96167020	4	1	778	1	0	0	0	0	0	0	0	0	12069	1535	53	5	750	5	PLEKHF2	8	96167020	Nonstop_Mutation	SNP	T	TCGA-P4-AAVM-01A-11D-A42J-10	65515473	96167020	50197002	26	46003											
PLEC	5339	hgsc.bcm.edu	37	8	144997632	144997632	+	Silent	SNP	C	C	G	rs376957701		TCGA-P4-AAVM-01A-11D-A42J-10	TCGA-P4-AAVM-11A-11D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c5d3340-513d-4576-8298-848fee2f3edc	2e812561-7f51-41c5-bdb3-4861f646b630	g.chr8:144997632C>G	ENST00000322810.4	-	31	7045	c.6876G>C	c.(6874-6876)gcG>gcC	p.A2292A	PLEC_ENST00000436759.2_Silent_p.A2182A|PLEC_ENST00000345136.3_Silent_p.A2155A|PLEC_ENST00000527096.1_Silent_p.A2178A|PLEC_ENST00000356346.3_Silent_p.A2141A|PLEC_ENST00000354958.2_Silent_p.A2133A|PLEC_ENST00000357649.2_Silent_p.A2159A|PLEC_ENST00000354589.3_Silent_p.A2155A|PLEC_ENST00000398774.2_Silent_p.A2123A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2292	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						GCCGCAGGGCCGCCTGCTCCG	0.687																																																0													9	11	11					8																	144997632		2003	4078	6081	SO:0001819	synonymous_variant	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.6876G>C	chr8.hg19:g.144997632C>G			Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	hg19	CCDS43772.1																																																																																				0.687	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		G	144997632	C	G	144997632	2	3	778	1	0	0	0	0	0	0	0	1	12054	639	23	4		4	PLEC	8	144997632	Silent	SNP	C	TCGA-P4-AAVM-01A-11D-A42J-10	48830612	144997632	1366390	27	46004											
FGD3	89846	hgsc.bcm.edu	37	9	95784642	95784642	+	Missense_Mutation	SNP	A	A	G			TCGA-P4-AAVM-01A-11D-A42J-10	TCGA-P4-AAVM-11A-11D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c5d3340-513d-4576-8298-848fee2f3edc	2e812561-7f51-41c5-bdb3-4861f646b630	g.chr9:95784642A>G	ENST00000375482.3	+	14	2024	c.1528A>G	c.(1528-1530)Acc>Gcc	p.T510A	FGD3_ENST00000538555.1_Missense_Mutation_p.T113A|FGD3_ENST00000337352.6_Missense_Mutation_p.T510A|FGD3_ENST00000416701.2_Missense_Mutation_p.T510A	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	510					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						GCCTGTGGTGACCACCGAAGG	0.632																																																0													55	58	57					9																	95784642		2036	4171	6207	SO:0001583	missense	89846			AK000004	CCDS43849.1, CCDS69619.1	9q22	2013-01-10	2004-08-24		ENSG00000127084	ENSG00000127084		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	16027	protein-coding gene	gene with protein product			"FGD1 family, member 3"			11214971	Standard	NM_001083536		Approved	FLJ00004, ZFYVE5	uc004asz.2	Q5JSP0	OTTHUMG00000021032	ENST00000375482.3:c.1528A>G	chr9.hg19:g.95784642A>G	ENSP00000364631:p.Thr510Ala		F8W7P2|Q4VX84|Q7Z7D9|Q8N5G1	Missense_Mutation	SNP	ENST00000375482.3	hg19	CCDS43849.1	.	.	.	.	.	.	.	.	.	.	A	1.354	-0.590584	0.03799	.	.	ENSG00000127084	ENST00000375482;ENST00000416701;ENST00000337352;ENST00000538555	T;T;T;T	0.71817	-0.5;-0.5;-0.5;-0.6	4.27	2.16	0.27623	Zinc finger, FYVE/PHD-type (1);	1.877530	0.03443	N	0.209516	T	0.39172	0.1068	N	0.00926	-1.1	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.41052	-0.9530	10	0.11182	T	0.66	.	5.0026	0.14271	0.1435:0.2066:0.6499:0.0	.	510;510	F8W7P2;Q5JSP0	.;FGD3_HUMAN	A	510;510;510;113	ENSP00000364631:T510A;ENSP00000413833:T510A;ENSP00000336914:T510A;ENSP00000442560:T113A	ENSP00000336914:T510A	T	+	1	0	FGD3	94824463	0.035000	0.19736	0.001000	0.08648	0.005000	0.04900	2.468000	0.45102	0.387000	0.25024	0.402000	0.26972	ACC		0.632	FGD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055493.1	NM_033086		G	95784642	A	G	95784642	3	3	778	1	0	0	0	0	1	0	0	0	5836	275	10	3	1574	3	FGD3	9	95784642	Missense_Mutation	SNP	A	TCGA-P4-AAVM-01A-11D-A42J-10		95784642	45428789	28	46005											
ANKS6	203286	hgsc.bcm.edu	37	9	101546300	101546300	+	Silent	SNP	G	G	A			TCGA-P4-AAVM-01A-11D-A42J-10	TCGA-P4-AAVM-11A-11D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c5d3340-513d-4576-8298-848fee2f3edc	2e812561-7f51-41c5-bdb3-4861f646b630	g.chr9:101546300G>A	ENST00000353234.4	-	4	1094	c.1047C>T	c.(1045-1047)caC>caT	p.H349H	ANKS6_ENST00000540940.1_Silent_p.H154H|ANKS6_ENST00000375018.1_Silent_p.H349H|ANKS6_ENST00000375019.2_Silent_p.H48H			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	349						cilium (GO:0005929)|cytoplasm (GO:0005737)				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				CAACATCCGCGTGCCTCTCCA	0.647																																																0													57	63	61					9																	101546300		2177	4270	6447	SO:0001819	synonymous_variant	203286			AK094247	CCDS43856.1	9q31.1	2013-09-10	2006-02-17	2006-02-17	ENSG00000165138	ENSG00000165138		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	26724	protein-coding gene	gene with protein product		615370	"sterile alpha motif domain containing 6", "ankyrin repeat domain 14"	SAMD6, ANKRD14		23793029	Standard	XM_005251793		Approved	FLJ36928, NPHP16	uc004ayu.3	Q68DC2	OTTHUMG00000020347	ENST00000353234.4:c.1047C>T	chr9.hg19:g.101546300G>A			A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Silent	SNP	ENST00000353234.4	hg19	CCDS43856.1																																																																																				0.647	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277053.1	NM_173551		A	101546300	G	A	101546300	2	1	778	1	0	0	0	0	0	0	0	1	692	1136	40	1		1	ANKS6	9	101546300	Silent	SNP	G	TCGA-P4-AAVM-01A-11D-A42J-10	5761658	101546300	39667131	29	46006											
ANKS6	203286	hgsc.bcm.edu	37	9	101552742	101552742	+	Missense_Mutation	SNP	A	A	G			TCGA-P4-AAVM-01A-11D-A42J-10	TCGA-P4-AAVM-11A-11D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c5d3340-513d-4576-8298-848fee2f3edc	2e812561-7f51-41c5-bdb3-4861f646b630	g.chr9:101552742A>G	ENST00000353234.4	-	2	553	c.506T>C	c.(505-507)tTt>tCt	p.F169S	ANKS6_ENST00000471846.1_5'UTR|ANKS6_ENST00000540940.1_5'UTR|ANKS6_ENST00000375018.1_Missense_Mutation_p.F169S|ANKS6_ENST00000375019.2_Intron			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	169						cilium (GO:0005929)|cytoplasm (GO:0005737)				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				ATGGTCCACAAAGGCACCGGC	0.647																																																0													26	33	31					9																	101552742		2057	4201	6258	SO:0001583	missense	203286			AK094247	CCDS43856.1	9q31.1	2013-09-10	2006-02-17	2006-02-17	ENSG00000165138	ENSG00000165138		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	26724	protein-coding gene	gene with protein product		615370	"sterile alpha motif domain containing 6", "ankyrin repeat domain 14"	SAMD6, ANKRD14		23793029	Standard	XM_005251793		Approved	FLJ36928, NPHP16	uc004ayu.3	Q68DC2	OTTHUMG00000020347	ENST00000353234.4:c.506T>C	chr9.hg19:g.101552742A>G	ENSP00000297837:p.Phe169Ser		A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Missense_Mutation	SNP	ENST00000353234.4	hg19	CCDS43856.1	.	.	.	.	.	.	.	.	.	.	A	1.456	-0.563751	0.03939	.	.	ENSG00000165138	ENST00000375018;ENST00000353234	T;T	0.62232	0.04;0.04	5.67	2.06	0.26882	Ankyrin repeat-containing domain (4);	0.555420	0.21506	N	0.073453	T	0.23688	0.0573	N	0.00456	-1.48	0.38197	D	0.940066	B	0.14012	0.009	B	0.21360	0.034	T	0.04454	-1.0950	10	0.17369	T	0.5	-1.109	7.859	0.29499	0.7534:0.0:0.2466:0.0	.	169	Q68DC2	ANKS6_HUMAN	S	169	ENSP00000364158:F169S;ENSP00000297837:F169S	ENSP00000297837:F169S	F	-	2	0	ANKS6	100592563	0.444000	0.25649	0.223000	0.23860	0.040000	0.13550	1.038000	0.30254	0.414000	0.25790	0.459000	0.35465	TTT		0.647	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277053.1	NM_173551		G	101552742	A	G	101552742	3	3	778	1	0	0	0	0	1	0	0	0	692	14	1	3	2165	3	ANKS6	9	101552742	Missense_Mutation	SNP	A	TCGA-P4-AAVM-01A-11D-A42J-10	6442	101552742	39660689	30	46007											
LRRC8A	56262	hgsc.bcm.edu	37	9	131669737	131669737	+	Missense_Mutation	SNP	G	G	C			TCGA-P4-AAVM-01A-11D-A42J-10	TCGA-P4-AAVM-11A-11D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c5d3340-513d-4576-8298-848fee2f3edc	2e812561-7f51-41c5-bdb3-4861f646b630	g.chr9:131669737G>C	ENST00000259324.5	+	3	817	c.294G>C	c.(292-294)aaG>aaC	p.K98N	LRRC8A_ENST00000372599.3_Missense_Mutation_p.K98N|LRRC8A_ENST00000372600.4_Missense_Mutation_p.K98N	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	98					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						CAGGCATCAAGTATGACCTGG	0.612																																																0													79	78	78					9																	131669737		2203	4300	6503	SO:0001583	missense	56262			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.294G>C	chr9.hg19:g.131669737G>C	ENSP00000259324:p.Lys98Asn		Q6UXM2|Q8NCI0|Q9P2B1	Missense_Mutation	SNP	ENST00000259324.5	hg19	CCDS35155.1	.	.	.	.	.	.	.	.	.	.	G	13.32	2.203074	0.38905	.	.	ENSG00000136802	ENST00000372600;ENST00000372599;ENST00000259324	T;T;T	0.34472	1.36;1.36;1.36	5.41	3.46	0.39613	Leucine-rich repeat-containing protein 8, N-terminal (1);	0.335130	0.36101	N	0.002800	T	0.25457	0.0619	L	0.38175	1.15	0.36156	D	0.847807	B	0.19706	0.038	B	0.23852	0.049	T	0.24657	-1.0154	10	0.72032	D	0.01	.	4.0417	0.09755	0.2627:0.1813:0.556:0.0	.	98	Q8IWT6	LRC8A_HUMAN	N	98	ENSP00000361682:K98N;ENSP00000361680:K98N;ENSP00000259324:K98N	ENSP00000259324:K98N	K	+	3	2	LRRC8A	130709558	0.997000	0.39634	1.000000	0.80357	0.956000	0.61745	0.459000	0.21908	1.281000	0.44480	0.563000	0.77884	AAG		0.612	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054516.2	NM_019594		C	131669737	G	C	131669737	3	2	778	1	0	0	0	0	1	0	0	0	9023	1020	36	4	296	4	LRRC8A	9	131669737	Missense_Mutation	SNP	G	TCGA-P4-AAVM-01A-11D-A42J-10	30116995	131669737	9543694	31	46008	494	2									
LRRC8A	56262	hgsc.bcm.edu	37	9	131669746	131669746	+	Silent	SNP	G	G	A			TCGA-P4-AAVM-01A-11D-A42J-10	TCGA-P4-AAVM-11A-11D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c5d3340-513d-4576-8298-848fee2f3edc	2e812561-7f51-41c5-bdb3-4861f646b630	g.chr9:131669746G>A	ENST00000259324.5	+	3	826	c.303G>A	c.(301-303)ctG>ctA	p.L101L	LRRC8A_ENST00000372599.3_Silent_p.L101L|LRRC8A_ENST00000372600.4_Silent_p.L101L	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	101					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						AGTATGACCTGGACCGGCACC	0.622																																																0													87	85	86					9																	131669746		2203	4300	6503	SO:0001819	synonymous_variant	56262			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.303G>A	chr9.hg19:g.131669746G>A			Q6UXM2|Q8NCI0|Q9P2B1	Silent	SNP	ENST00000259324.5	hg19	CCDS35155.1																																																																																				0.622	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054516.2	NM_019594		A	131669746	G	A	131669746	2	1	778	1	0	0	0	0	0	0	0	1	9023	1335	47	2		2	LRRC8A	9	131669746	Silent	SNP	G	TCGA-P4-AAVM-01A-11D-A42J-10	9	131669746	9543685	32	46009	494	2									
LCN15	389812	hgsc.bcm.edu	37	9	139656704	139656705	+	Missense_Mutation	DNP	GG	GG	CC			TCGA-P4-AAVM-01A-11D-A42J-10	TCGA-P4-AAVM-11A-11D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c5d3340-513d-4576-8298-848fee2f3edc	2e812561-7f51-41c5-bdb3-4861f646b630	g.chr9:139656704_139656705GG>CC	ENST00000316144.5	-	5	479_480	c.455_456CC>GG	c.(454-456)tCC>tGG	p.S152W	LCN15_ENST00000482511.1_5'UTR	NM_203347.1	NP_976222.1	Q6UWW0	LCN15_HUMAN	lipocalin 15	152			S -> A (in dbSNP:rs2297723).		lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	small molecule binding (GO:0036094)|transporter activity (GO:0005215)			endometrium(1)|lung(1)	2						AGTCCTGGAAGGACTTCAGAGC	0.649																																																0																																										SO:0001583	missense	389812				CCDS7006.1	9q34.3	2011-10-24			ENSG00000177984	ENSG00000177984		"Lipocalins"	33777	protein-coding gene	gene with protein product							Standard	NM_203347		Approved	UNQ2541, PRO6093	uc004cjd.3	Q6UWW0	OTTHUMG00000020943	ENST00000316144.5:c.455_456delinsCC	chr9.hg19:g.139656704_139656705delinsCC	ENSP00000313833:p.Ser152Trp			Silent|Missense_Mutation	SNP	ENST00000316144.5	hg19	CCDS7006.1																																																																																				0.649	LCN15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055114.2	NM_203347		CC	139656705	GG	CC	139656704	3	2	778	1	0	0	0	0	1	0	0	0	8685	987	35	4	106	4	LCN15	9	139656704	Missense_Mutation	DNP	GG	TCGA-P4-AAVM-01A-11D-A42J-10	7986958	139656704	1556727	33	46010											
ZNF195	7748	hgsc.bcm.edu	37	11	3380399	3380399	+	Silent	SNP	T	T	C			TCGA-P4-AAVM-01A-11D-A42J-10	TCGA-P4-AAVM-11A-11D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c5d3340-513d-4576-8298-848fee2f3edc	2e812561-7f51-41c5-bdb3-4861f646b630	g.chr11:3380399T>C	ENST00000399602.4	-	6	1965	c.1839A>G	c.(1837-1839)aaA>aaG	p.K613K	ZNF195_ENST00000429541.2_Silent_p.K545K|ZNF195_ENST00000354599.6_Silent_p.K541K|ZNF195_ENST00000343338.7_Silent_p.K545K|ZNF195_ENST00000526601.1_Silent_p.K594K|ZNF195_ENST00000005082.9_Silent_p.K590K|ZNF195_ENST00000528796.1_Intron	NM_001130520.2	NP_001123992.1	O14628	ZN195_HUMAN	zinc finger protein 195	613					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		GGGTGAAGGCTTTGCCACACT	0.378																																																0													63	65	64					11																	3380399		2026	4209	6235	SO:0001819	synonymous_variant	7748				CCDS41604.1, CCDS44521.1, CCDS44522.1, CCDS55736.1, CCDS55737.1, CCDS58111.1	11p15.5	2013-01-08			ENSG00000005801	ENSG00000005801		"Zinc fingers, C2H2-type", "-"	12986	protein-coding gene	gene with protein product		602187				9344677	Standard	NM_001130520		Approved		uc001lxt.3	O14628	OTTHUMG00000011694	ENST00000399602.4:c.1839A>G	chr11.hg19:g.3380399T>C			A8K234|B3KTK2|B4DEL0|C9JLY9|L7MNK2|Q0VAJ6|Q658N8|Q6ZNA9	Silent	SNP	ENST00000399602.4	hg19	CCDS44522.1																																																																																				0.378	ZNF195-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032321.2			C	3380399	T	C	3380399	2	2	778	1	0	0	0	0	0	0	0	1	17763	1606	56	3		3	ZNF195	11	3380399	Silent	SNP	T	TCGA-P4-AAVM-01A-11D-A42J-10		3380399	131626117	34	46011											
SMPD1	6609	hgsc.bcm.edu	37	11	6411960	6411960	+	Silent	SNP	G	G	T			TCGA-P4-AAVM-01A-11D-A42J-10	TCGA-P4-AAVM-11A-11D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c5d3340-513d-4576-8298-848fee2f3edc	2e812561-7f51-41c5-bdb3-4861f646b630	g.chr11:6411960G>T	ENST00000342245.4	+	1	300	c.132G>T	c.(130-132)gcG>gcT	p.A44A	SMPD1_ENST00000533196.1_3'UTR|SMPD1_ENST00000527275.1_Silent_p.A44A|SMPD1_ENST00000299397.3_Silent_p.A44A|SMPD1_ENST00000356761.2_Silent_p.A44A	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid lysosomal	44					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)	tggcgctggcgctggcgctgg	0.692																																																0													19	22	21					11																	6411960		2199	4295	6494	SO:0001819	synonymous_variant	6609			AB209775	CCDS31409.1, CCDS44531.1, CCDS31409.2	11p15.4-p15.1	2010-04-28	2008-02-04		ENSG00000166311	ENSG00000166311	3.1.4.12		11120	protein-coding gene	gene with protein product	"acid sphingomyelinase"	607608				1711683	Standard	NM_000543		Approved	ASM	uc001mcw.3	P17405	OTTHUMG00000165453	ENST00000342245.4:c.132G>T	chr11.hg19:g.6411960G>T			A8K8M3|E9PKS3|P17406|Q13811|Q16837|Q16841	Silent	SNP	ENST00000342245.4	hg19	CCDS44531.1																																																																																				0.692	SMPD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384205.1	NM_000543		T	6411960	G	T	6411960	2	4	778	1	0	0	0	0	0	0	0	1	14810	1074	38	4		4	SMPD1	11	6411960	Silent	SNP	G	TCGA-P4-AAVM-01A-11D-A42J-10	3031561	6411960	128594556	35	46012											
NDUFS8	4728	hgsc.bcm.edu	37	11	67800585	67800585	+	Silent	SNP	C	C	A			TCGA-P4-AAVM-01A-11D-A42J-10	TCGA-P4-AAVM-11A-11D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c5d3340-513d-4576-8298-848fee2f3edc	2e812561-7f51-41c5-bdb3-4861f646b630	g.chr11:67800585C>A	ENST00000313468.5	+	5	314	c.207C>A	c.(205-207)ggC>ggA	p.G69G	NDUFS8_ENST00000528492.1_Intron|MIR4691_ENST00000583764.1_RNA|RP5-901A4.1_ENST00000532296.1_RNA	NM_002496.3	NP_002487.1	O00217	NDUS8_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)	69					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|mitochondrial respiratory chain complex I assembly (GO:0032981)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(1)|kidney(1)|lung(5)|skin(1)	8						CAGGCCTGGGCATGACCCTGA	0.692																																					Colon(116;1205 2770 20054)											0													49	46	47					11																	67800585		2200	4294	6494	SO:0001819	synonymous_variant	4728			U65579	CCDS8176.1	11q13.2	2011-07-04	2002-08-29		ENSG00000110717	ENSG00000110717	1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7715	protein-coding gene	gene with protein product	"complex I 23kDa subunit", "NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial"	602141	"NADH dehydrogenase (ubiquinone) Fe-S protein 8 (23kD) (NADH-coenzyme Q reductase)"			9666055, 9116042	Standard	NM_002496		Approved	TYKY, CI-23k	uc001onc.3	O00217	OTTHUMG00000167331	ENST00000313468.5:c.207C>A	chr11.hg19:g.67800585C>A			B2RB86|Q0VDA8	Silent	SNP	ENST00000313468.5	hg19	CCDS8176.1																																																																																				0.692	NDUFS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394193.1	NM_002496		A	67800585	C	A	67800585	2	1	778	1	0	0	0	0	0	0	0	1	10300	697	25	4		4	NDUFS8	11	67800585	Silent	SNP	C	TCGA-P4-AAVM-01A-11D-A42J-10	61388625	67800585	67205931	36	46013											
CCDC81	60494	hgsc.bcm.edu	37	11	86125892	86125892	+	Silent	SNP	A	A	C			TCGA-P4-AAVM-01A-11D-A42J-10	TCGA-P4-AAVM-11A-11D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c5d3340-513d-4576-8298-848fee2f3edc	2e812561-7f51-41c5-bdb3-4861f646b630	g.chr11:86125892A>C	ENST00000445632.2	+	12	1725	c.1453A>C	c.(1453-1455)Aga>Cga	p.R485R	CCDC81_ENST00000278487.3_Silent_p.R220R|CCDC81_ENST00000528728.1_Silent_p.R220R|CCDC81_ENST00000354755.1_Silent_p.R395R	NM_001156474.1	NP_001149946.1	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	485										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				GTGTTACAAGAGAGCTTTGGA	0.348																																																0													62	60	61					11																	86125892		2202	4299	6501	SO:0001819	synonymous_variant	60494			AK131331	CCDS8276.1, CCDS53691.1	11q14.2	2006-03-09			ENSG00000149201	ENSG00000149201			26281	protein-coding gene	gene with protein product							Standard	NM_001156474		Approved	FLJ16339, FLJ23514	uc001pbx.2	Q6ZN84	OTTHUMG00000167213	ENST00000445632.2:c.1453A>C	chr11.hg19:g.86125892A>C			A0AVL7|Q53FW3|Q9H5E5	Silent	SNP	ENST00000445632.2	hg19	CCDS53691.1																																																																																				0.348	CCDC81-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393756.1	NM_021827		C	86125892	A	C	86125892	2	2	778	1	0	0	0	0	0	0	0	1	2857	296	11	5		5	CCDC81	11	86125892	Silent	SNP	A	TCGA-P4-AAVM-01A-11D-A42J-10	18325307	86125892	48880624	37	46014											
PRICKLE1	144165	hgsc.bcm.edu	37	12	42854000	42854000	+	Silent	SNP	G	G	A			TCGA-P4-AAVM-01A-11D-A42J-10	TCGA-P4-AAVM-11A-11D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c5d3340-513d-4576-8298-848fee2f3edc	2e812561-7f51-41c5-bdb3-4861f646b630	g.chr12:42854000G>A	ENST00000455697.1	-	8	2392	c.2107C>T	c.(2107-2109)Ctg>Ttg	p.L703L	PRICKLE1_ENST00000548696.1_Silent_p.L703L|PRICKLE1_ENST00000345127.3_Silent_p.L703L|PRICKLE1_ENST00000445766.2_Silent_p.L703L|RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000552240.1_Silent_p.L703L	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	703					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)		GGGGTGTACAGCCGCAGTCTG	0.493																																																0													72	73	73					12																	42854000		2203	4300	6503	SO:0001819	synonymous_variant	144165			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.2107C>T	chr12.hg19:g.42854000G>A			Q14C83|Q71QF8|Q96N00	Silent	SNP	ENST00000455697.1	hg19	CCDS8742.1																																																																																				0.493	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404069.1			A	42854000	G	A	42854000	2	1	778	1	0	0	0	0	0	0	0	1	12491	962	34	2		2	PRICKLE1	12	42854000	Silent	SNP	G	TCGA-P4-AAVM-01A-11D-A42J-10		42854000	90997895	38	46015											
HOXC8	3224	hgsc.bcm.edu	37	12	54403214	54403214	+	Missense_Mutation	SNP	T	T	A			TCGA-P4-AAVM-01A-11D-A42J-10	TCGA-P4-AAVM-11A-11D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c5d3340-513d-4576-8298-848fee2f3edc	2e812561-7f51-41c5-bdb3-4861f646b630	g.chr12:54403214T>A	ENST00000040584.4	+	1	383	c.146T>A	c.(145-147)tTc>tAc	p.F49Y	RP11-834C11.12_ENST00000513209.1_Intron	NM_022658.3	NP_073149.1	P31273	HXC8_HUMAN	homeobox C8	49					anterior/posterior pattern specification (GO:0009952)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	8						GCGCCCGGCTTCCAGCACGCT	0.662																																					GBM(197;701 2226 7002 18822 41696)											0													80	92	88					12																	54403214		2203	4300	6503	SO:0001583	missense	3224			X99680	CCDS8870.1	12q13.13	2011-06-20	2005-12-22			ENSG00000037965		"Homeoboxes / ANTP class : HOXL subclass"	5129	protein-coding gene	gene with protein product		142970	"homeo box C8"	HOX3, HOX3A		1973146, 1358459	Standard	NM_022658		Approved		uc001ser.3	P31273		ENST00000040584.4:c.146T>A	chr12.hg19:g.54403214T>A	ENSP00000040584:p.Phe49Tyr		A8K4J4|O15221|O15362	Missense_Mutation	SNP	ENST00000040584.4	hg19	CCDS8870.1	.	.	.	.	.	.	.	.	.	.	T	26.7	4.760497	0.89932	.	.	ENSG00000037965	ENST00000040584	T	0.46819	0.86	3.95	3.95	0.45737	.	0.000000	0.85682	D	0.000000	T	0.68375	0.2994	M	0.87456	2.885	0.53688	D	0.999973	D	0.63880	0.993	D	0.67548	0.952	T	0.70784	-0.4778	10	0.34782	T	0.22	.	12.0911	0.53726	0.0:0.0:0.0:1.0	.	49	P31273	HXC8_HUMAN	Y	49	ENSP00000040584:F49Y	ENSP00000040584:F49Y	F	+	2	0	HOXC8	52689481	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.152000	0.58111	1.551000	0.49450	0.379000	0.24179	TTC		0.662	HOXC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358957.2			A	54403214	T	A	54403214	3	1	778	1	0	0	0	0	1	0	0	0	7318	1783	62	5	148	5	HOXC8	12	54403214	Missense_Mutation	SNP	T	TCGA-P4-AAVM-01A-11D-A42J-10	11549214	54403214	79448681	39	46016											
BRCA2	675	hgsc.bcm.edu	37	13	32907282	32907282	+	Missense_Mutation	SNP	A	A	G			TCGA-P4-AAVM-01A-11D-A42J-10	TCGA-P4-AAVM-11A-11D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c5d3340-513d-4576-8298-848fee2f3edc	2e812561-7f51-41c5-bdb3-4861f646b630	g.chr13:32907282A>G	ENST00000380152.3	+	10	1900	c.1667A>G	c.(1666-1668)aAt>aGt	p.N556S	BRCA2_ENST00000544455.1_Missense_Mutation_p.N556S			P51587	BRCA2_HUMAN	breast cancer 2, early onset	556					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)		TTATGTCCAAATTTAATTGAT	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)	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"L, E"	0													70	78	76					13																	32907282		2203	4300	6503	SO:0001583	missense	675	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)	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.1667A>G	chr13.hg19:g.32907282A>G	ENSP00000369497:p.Asn556Ser		O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	hg19	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	A	0.003	-2.485706	0.00163	.	.	ENSG00000139618	ENST00000380152;ENST00000544455;ENST00000530893	T;T	0.00664	5.92;5.92	5.5	1.21	0.21127	.	0.434585	0.24740	N	0.035995	T	0.00271	0.0008	N	0.00621	-1.32	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.45731	-0.9241	10	0.02654	T	1	.	6.3438	0.21337	0.5377:0.0:0.4623:0.0	.	556;556	P51587;A1YBP1	BRCA2_HUMAN;.	S	556;556;554	ENSP00000369497:N556S;ENSP00000439902:N556S	ENSP00000369497:N556S	N	+	2	0	BRCA2	31805282	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.070000	0.11523	0.362000	0.24319	-0.248000	0.11899	AAT		0.373	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		G	32907282	A	G	32907282	3	3	778	1	0	0	0	0	1	0	0	0	1501	101	4	3	1701	3	BRCA2	13	32907282	Missense_Mutation	SNP	A	TCGA-P4-AAVM-01A-11D-A42J-10		32907282	82262596	40	46017											
SNW1	22938	hgsc.bcm.edu	37	14	78184510	78184510	+	Missense_Mutation	SNP	T	T	C			TCGA-P4-AAVM-01A-11D-A42J-10	TCGA-P4-AAVM-11A-11D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c5d3340-513d-4576-8298-848fee2f3edc	2e812561-7f51-41c5-bdb3-4861f646b630	g.chr14:78184510T>C	ENST00000261531.7	-	14	1594	c.1532A>G	c.(1531-1533)cAt>cGt	p.H511R	SNW1_ENST00000555761.1_Missense_Mutation_p.M538V|SNW1_ENST00000554775.1_Missense_Mutation_p.H349R|SLIRP_ENST00000557431.1_Intron|SLIRP_ENST00000557623.1_Intron	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	511					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)		AGAGCCACCATGCTGTTTGGC	0.498																																																0													181	184	183					14																	78184510		2203	4300	6503	SO:0001583	missense	22938			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.1532A>G	chr14.hg19:g.78184510T>C	ENSP00000261531:p.His511Arg		A8K8A9|Q13483|Q32N03|Q5D0D6	Missense_Mutation	SNP	ENST00000261531.7	hg19	CCDS9867.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.67|11.67	1.706995|1.706995	0.30232|0.30232	.|.	.|.	ENSG00000100603|ENSG00000100603	ENST00000261531;ENST00000554775|ENST00000555761	.|.	.|.	.|.	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.33818|0.33818	0.0876|0.0876	N|N	0.08118|0.08118	0|0	0.33515|0.33515	D|D	0.591654|0.591654	P|B	0.50156|0.06786	0.932|0.001	P|B	0.58520|0.11329	0.84|0.006	T|T	0.37842|0.37842	-0.9688|-0.9688	9|7	0.40728|.	T|.	0.16|.	.|.	15.9314|15.9314	0.79663|0.79663	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	511|538	Q13573|G3V3A4	SNW1_HUMAN|.	R|V	511;349|538	.|.	ENSP00000261531:H511R|.	H|M	-|-	2|1	0|0	SNW1|SNW1	77254263|77254263	1.000000|1.000000	0.71417|0.71417	0.981000|0.981000	0.43875|0.43875	0.989000|0.989000	0.77384|0.77384	7.431000|7.431000	0.80335|0.80335	2.176000|2.176000	0.68965|0.68965	0.383000|0.383000	0.25322|0.25322	CAT|ATG		0.498	SNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413912.1	NM_012245		C	78184510	T	C	78184510	3	2	778	1	0	0	0	0	1	0	0	0	14885	1464	51	3	82	3	SNW1	14	78184510	Missense_Mutation	SNP	T	TCGA-P4-AAVM-01A-11D-A42J-10		78184510	29165030	41	46018											
PML	5371	hgsc.bcm.edu	37	15	74315345	74315345	+	Missense_Mutation	SNP	A	A	C			TCGA-P4-AAVM-01A-11D-A42J-10	TCGA-P4-AAVM-11A-11D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c5d3340-513d-4576-8298-848fee2f3edc	2e812561-7f51-41c5-bdb3-4861f646b630	g.chr15:74315345A>C	ENST00000268058.3	+	3	875	c.779A>C	c.(778-780)cAg>cCg	p.Q260P	PML_ENST00000436891.3_Missense_Mutation_p.Q260P|PML_ENST00000359928.4_Missense_Mutation_p.Q260P|PML_ENST00000567543.1_Missense_Mutation_p.Q260P|PML_ENST00000395132.2_Missense_Mutation_p.Q260P|PML_ENST00000564428.1_Missense_Mutation_p.Q260P|PML_ENST00000569965.1_Missense_Mutation_p.Q260P|PML_ENST00000354026.6_Missense_Mutation_p.Q260P|PML_ENST00000563500.1_Missense_Mutation_p.Q260P|PML_ENST00000565898.1_Missense_Mutation_p.Q260P|PML_ENST00000395135.3_Missense_Mutation_p.Q260P|PML_ENST00000268059.6_Missense_Mutation_p.Q260P|PML_ENST00000435786.2_Missense_Mutation_p.Q260P|PML_ENST00000569161.1_3'UTR|PML_ENST00000569477.1_Missense_Mutation_p.Q260P	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia	260					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						GTTCACGCGCAGATGCACGCG	0.697			T	"RARA, PAX5"	"APL, ALL"																																		Dom	yes		15	15q22	5371	promyelocytic leukemia		L	0													19	17	17					15																	74315345		2189	4289	6478	SO:0001583	missense	5371			AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.779A>C	chr15.hg19:g.74315345A>C	ENSP00000268058:p.Gln260Pro		E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Missense_Mutation	SNP	ENST00000268058.3	hg19	CCDS10255.1	.	.	.	.	.	.	.	.	.	.	A	12.18	1.861866	0.32884	.	.	ENSG00000140464	ENST00000395135;ENST00000435786;ENST00000359928;ENST00000436891;ENST00000268058;ENST00000395132;ENST00000268059;ENST00000354026;ENST00000418568	T	0.50277	0.75	4.93	3.81	0.43845	.	0.993173	0.08176	N	0.986262	T	0.60340	0.2261	M	0.61703	1.905	0.09310	N	1	D;P;P;P;P;P;P;D;P;P;P;D;P	0.63880	0.993;0.915;0.91;0.666;0.938;0.727;0.784;0.985;0.89;0.89;0.61;0.993;0.769	P;P;P;B;P;B;P;P;P;P;B;P;P	0.61592	0.843;0.571;0.663;0.348;0.555;0.251;0.478;0.777;0.527;0.628;0.346;0.891;0.46	T	0.42965	-0.9420	10	0.72032	D	0.01	-14.2634	5.078	0.14642	0.7206:0.1838:0.0956:0.0	.	260;210;260;260;260;260;260;260;260;260;260;260;263	P29590-3;Q59GQ8;P29590;P29590-11;P29590-12;P29590-5;E9PBR7;P29590-13;P29590-4;P29590-2;P29590-14;P29590-8;Q59H09	.;.;PML_HUMAN;.;.;.;.;.;.;.;.;.;.	P	260	ENSP00000268058:Q260P	ENSP00000268058:Q260P	Q	+	2	0	PML	72102398	0.018000	0.18449	0.003000	0.11579	0.164000	0.22412	0.479000	0.22228	0.746000	0.32786	0.260000	0.18958	CAG		0.697	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269021.3	NM_002675		C	74315345	A	C	74315345	3	2	778	1	0	0	0	0	1	0	0	0	12137	188	7	5	789	5	PML	15	74315345	Missense_Mutation	SNP	A	TCGA-P4-AAVM-01A-11D-A42J-10		74315345	28216047	42	46019											
PDXDC1	23042	hgsc.bcm.edu	37	16	15110996	15110996	+	Missense_Mutation	SNP	G	G	A			TCGA-P4-AAVM-01A-11D-A42J-10	TCGA-P4-AAVM-11A-11D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c5d3340-513d-4576-8298-848fee2f3edc	2e812561-7f51-41c5-bdb3-4861f646b630	g.chr16:15110996G>A	ENST00000396410.4	+	10	929	c.832G>A	c.(832-834)Gct>Act	p.A278T	PDXDC1_ENST00000455313.2_Missense_Mutation_p.A255T|PDXDC1_ENST00000447912.2_Missense_Mutation_p.A187T|PDXDC1_ENST00000535621.2_Missense_Mutation_p.A278T|PDXDC1_ENST00000563679.1_Missense_Mutation_p.A296T|PDXDC1_ENST00000569715.1_Missense_Mutation_p.A251T|PDXDC1_ENST00000325823.7_Missense_Mutation_p.A263T|RP11-680G24.5_ENST00000565178.1_RNA|PDXDC1_ENST00000450288.2_Missense_Mutation_p.A250T	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	278					carboxylic acid metabolic process (GO:0019752)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGCAACATTGGCTCTGGGTTA	0.373																																																0													300	304	303					16																	15110996		2197	4300	6497	SO:0001583	missense	23042			AK025504, BX647809	CCDS32393.1, CCDS66954.1, CCDS66957.1, CCDS73830.1, CCDS73831.1	16p13.11	2008-02-05							28995	protein-coding gene	gene with protein product		614244					Standard	XM_005255173		Approved	KIAA0251	uc002dda.4	Q6P996	OTTHUMG00000166304	ENST00000396410.4:c.832G>A	chr16.hg19:g.15110996G>A	ENSP00000379691:p.Ala278Thr		B4DR55|B4DSL3|E7EMH5|E7EPL4|H3BNZ1|O00236|Q4F6X7|Q6PID7|Q86YF1|Q8N4Q9|Q8TBS5	Missense_Mutation	SNP	ENST00000396410.4	hg19	CCDS32393.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.539966	0.85917	.	.	ENSG00000179889	ENST00000325823;ENST00000447912;ENST00000535621;ENST00000396410;ENST00000450288;ENST00000455313	T;T;T;T;T;T	0.26373	1.74;1.74;1.74;1.74;1.74;1.74	5.45	5.45	0.79879	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.098174	0.64402	D	0.000001	T	0.44159	0.1280	L	0.45698	1.435	0.54753	D	0.999982	D;D;D;D;D;P	0.71674	0.998;0.997;0.986;0.998;0.998;0.55	D;D;P;D;D;B	0.70716	0.966;0.97;0.883;0.966;0.966;0.426	T	0.07177	-1.0786	10	0.27082	T	0.32	-14.2336	18.2726	0.90073	0.0:0.0:1.0:0.0	.	250;187;278;250;278;255	E7EPL4;E7EMH5;Q86XE2;B4DR55;Q6P996;Q6P996-2	.;.;.;.;PDXD1_HUMAN;.	T	263;187;278;278;250;255	ENSP00000322807:A263T;ENSP00000400310:A187T;ENSP00000437835:A278T;ENSP00000379691:A278T;ENSP00000391147:A250T;ENSP00000406703:A255T	ENSP00000322807:A263T	A	+	1	0	PDXDC1	15018497	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.905000	0.87416	2.546000	0.85860	0.542000	0.68232	GCT		0.373	PDXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389065.2	NM_015027		A	15110996	G	A	15110996	3	1	778	1	0	0	0	0	1	0	0	0	11698	1203	42	2	870	2	PDXDC1	16	15110996	Missense_Mutation	SNP	G	TCGA-P4-AAVM-01A-11D-A42J-10		15110996	75243757	43	46020											
GLG1	2734	hgsc.bcm.edu	37	16	74491772	74491772	+	Splice_Site	SNP	G	G	A			TCGA-P4-AAVM-01A-11D-A42J-10	TCGA-P4-AAVM-11A-11D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c5d3340-513d-4576-8298-848fee2f3edc	2e812561-7f51-41c5-bdb3-4861f646b630	g.chr16:74491772G>A	ENST00000422840.2	-	24	3264	c.3265C>T	c.(3265-3267)Caa>Taa	p.Q1089*	RNU6-237P_ENST00000515985.1_RNA|GLG1_ENST00000447066.2_Splice_Site_p.Q1078*|GLG1_ENST00000205061.5_Splice_Site_p.Q1089*	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	1089					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						AGAGACTTACGACGCCCGCGG	0.517																																																0													124	113	117					16																	74491772		2198	4300	6498	SO:0001630	splice_region_variant	2734				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.3265+1C>T	chr16.hg19:g.74491772G>A			B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Nonsense_Mutation	SNP	ENST00000422840.2	hg19	CCDS45527.1	.	.	.	.	.	.	.	.	.	.	G	43	10.072459	0.99330	.	.	ENSG00000090863	ENST00000205061;ENST00000447066;ENST00000422840	.	.	.	5.8	5.8	0.92144	.	0.051884	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-18.3892	20.051	0.97627	0.0:0.0:1.0:0.0	.	.	.	.	X	1089;1078;1089	.	.	Q	-	1	0	GLG1	73049273	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.476000	0.97823	2.740000	0.93945	0.650000	0.86243	CAA		0.517	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435750.1	NM_012201	Nonsense_Mutation	A	74491772	G	A	74491772	5	1	778	1	0	0	0	0	0	0	1	0	6438	1072	37	1	366	1	GLG1	16	74491772	Splice_Site	SNP	G	TCGA-P4-AAVM-01A-11D-A42J-10	59380776	74491772	15862981	44	46021											
PLCG2	5336	hgsc.bcm.edu	37	16	81965133	81965133	+	Silent	SNP	C	C	G			TCGA-P4-AAVM-01A-11D-A42J-10	TCGA-P4-AAVM-11A-11D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c5d3340-513d-4576-8298-848fee2f3edc	2e812561-7f51-41c5-bdb3-4861f646b630	g.chr16:81965133C>G	ENST00000359376.3	+	25	2827	c.2613C>G	c.(2611-2613)tcC>tcG	p.S871S		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	871					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						ACCAGAAGTCCTTTGTCTTCA	0.527																																																0													72	77	75					16																	81965133		1897	4116	6013	SO:0001819	synonymous_variant	5336				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.2613C>G	chr16.hg19:g.81965133C>G			D3DUL3|Q3ZTS2|Q59H45|Q969T5	Silent	SNP	ENST00000359376.3	hg19	CCDS42204.1																																																																																				0.527	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			G	81965133	C	G	81965133	2	3	778	1	0	0	0	0	0	0	0	1	12038	668	24	4		4	PLCG2	16	81965133	Silent	SNP	C	TCGA-P4-AAVM-01A-11D-A42J-10	7473361	81965133	8389620	45	46022											
GPATCH8	23131	hgsc.bcm.edu	37	17	42476063	42476063	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P4-AAVM-01A-11D-A42J-10	TCGA-P4-AAVM-11A-11D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c5d3340-513d-4576-8298-848fee2f3edc	2e812561-7f51-41c5-bdb3-4861f646b630	g.chr17:42476063G>A	ENST00000591680.1	-	8	3412	c.3382C>T	c.(3382-3384)Caa>Taa	p.Q1128*	GPATCH8_ENST00000434000.1_Nonsense_Mutation_p.Q1050*	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1128							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		AAGTAACCTTGTGGGGGGTCC	0.547																																																0													109	109	109					17																	42476063		2203	4300	6503	SO:0001587	stop_gained	23131			AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"G patch domain containing"	29066	protein-coding gene	gene with protein product		614396	"KIAA0553"	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.3382C>T	chr17.hg19:g.42476063G>A	ENSP00000467556:p.Gln1128*		B9EGP9|O60300|Q8TB99	Nonsense_Mutation	SNP	ENST00000591680.1	hg19	CCDS32666.1	.	.	.	.	.	.	.	.	.	.	G	38	7.074636	0.98044	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	.	.	.	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-16.8599	18.4809	0.90811	0.0:0.0:1.0:0.0	.	.	.	.	X	1128;1050	.	ENSP00000335486:Q1128X	Q	-	1	0	GPATCH8	39831589	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.263000	0.95617	2.602000	0.87976	0.650000	0.86243	CAA		0.547	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909		A	42476063	G	A	42476063	4	1	778	1	0	0	0	0	0	1	0	0	6596	1386	48	2	1130	2	GPATCH8	17	42476063	Nonsense_Mutation	SNP	G	TCGA-P4-AAVM-01A-11D-A42J-10		42476063	38719147	46	46023											
MYL4	4635	hgsc.bcm.edu	37	17	45299172	45299172	+	Silent	SNP	C	C	T			TCGA-P4-AAVM-01A-11D-A42J-10	TCGA-P4-AAVM-11A-11D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c5d3340-513d-4576-8298-848fee2f3edc	2e812561-7f51-41c5-bdb3-4861f646b630	g.chr17:45299172C>T	ENST00000354968.1	+	5	566	c.438C>T	c.(436-438)agC>agT	p.S146S	MYL4_ENST00000393450.1_Silent_p.S146S|snoU13_ENST00000516279.1_RNA|MYL4_ENST00000572316.1_Silent_p.S146S	NM_001002841.1	NP_001002841.1	P12829	MYL4_HUMAN	myosin, light chain 4, alkali; atrial, embryonic	146	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cardiac muscle contraction (GO:0060048)|muscle filament sliding (GO:0030049)|positive regulation of ATPase activity (GO:0032781)|regulation of the force of heart contraction (GO:0002026)	A band (GO:0031672)|cytosol (GO:0005829)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|calcium ion binding (GO:0005509)|myosin II heavy chain binding (GO:0032038)			endometrium(2)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)	11						ACAAGGAGAGCAATGGCACGG	0.587																																																0													131	101	111					17																	45299172		2203	4300	6503	SO:0001819	synonymous_variant	4635				CCDS11510.1	17q21.32	2013-09-19	2006-09-29		ENSG00000198336	ENSG00000198336		"Myosins / Light chain", "EF-hand domain containing"	7585	protein-coding gene	gene with protein product	"myosin, atrial/fetal muscle, light chain"	160770	"myosin, light polypeptide 4, alkali; atrial, embryonic"			3417683	Standard	NM_002476		Approved	ALC1, AMLC, GT1, PRO1957	uc002ilg.3	P12829	OTTHUMG00000178232	ENST00000354968.1:c.438C>T	chr17.hg19:g.45299172C>T			D3DXJ7|P11783	Silent	SNP	ENST00000354968.1	hg19	CCDS11510.1																																																																																				0.587	MYL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441059.1	NM_001002841		T	45299172	C	T	45299172	2	4	778	1	0	0	0	0	0	0	0	1	10051	709	25	2		2	MYL4	17	45299172	Silent	SNP	C	TCGA-P4-AAVM-01A-11D-A42J-10	2823109	45299172	35896038	47	46024											
BPTF	2186	hgsc.bcm.edu	37	17	65916183	65916183	+	Silent	SNP	T	T	C			TCGA-P4-AAVM-01A-11D-A42J-10	TCGA-P4-AAVM-11A-11D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c5d3340-513d-4576-8298-848fee2f3edc	2e812561-7f51-41c5-bdb3-4861f646b630	g.chr17:65916183T>C	ENST00000321892.4	+	15	5920	c.5859T>C	c.(5857-5859)gtT>gtC	p.V1953V	BPTF_ENST00000424123.3_Silent_p.V1814V|BPTF_ENST00000335221.5_Silent_p.V1953V|BPTF_ENST00000306378.6_Silent_p.V1827V			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1953					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)			GGAGAGATGTTGGTCCTTATG	0.323																																																0													138	142	141					17																	65916183		2203	4300	6503	SO:0001819	synonymous_variant	2186			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"Zinc fingers, PHD-type"	3581	protein-coding gene	gene with protein product		601819	"fetal Alzheimer antigen"	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.5859T>C	chr17.hg19:g.65916183T>C			Q6NX67|Q7Z7D6|Q9UIG2	Silent	SNP	ENST00000321892.4	hg19																																																																																					0.323	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		C	65916183	T	C	65916183	2	2	778	1	0	0	0	0	0	0	0	1	1497	1799	63	3		3	BPTF	17	65916183	Silent	SNP	T	TCGA-P4-AAVM-01A-11D-A42J-10	20617011	65916183	15279027	48	46025											
UBE2O	63893	hgsc.bcm.edu	37	17	74449137	74449137	+	Silent	SNP	G	G	A			TCGA-P4-AAVM-01A-11D-A42J-10	TCGA-P4-AAVM-11A-11D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c5d3340-513d-4576-8298-848fee2f3edc	2e812561-7f51-41c5-bdb3-4861f646b630	g.chr17:74449137G>A	ENST00000319380.7	-	1	151	c.87C>T	c.(85-87)gcC>gcT	p.A29A	AANAT_ENST00000250615.3_5'Flank	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	29	Ala-rich.				positive regulation of BMP signaling pathway (GO:0030513)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						cgggggctgcggctggggccg	0.781																																																0													1	1	1					17																	74449137		533	1169	1702	SO:0001819	synonymous_variant	63893			AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931			29554	protein-coding gene	gene with protein product						11311559, 11214970	Standard	NM_022066		Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.87C>T	chr17.hg19:g.74449137G>A			A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Silent	SNP	ENST00000319380.7	hg19	CCDS32742.1																																																																																				0.781	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450123.1	NM_022066		A	74449137	G	A	74449137	2	1	778	1	0	0	0	0	0	0	0	1	16873	1103	39	1		1	UBE2O	17	74449137	Silent	SNP	G	TCGA-P4-AAVM-01A-11D-A42J-10	8532954	74449137	6746073	49	46026											
DENND1C	79958	hgsc.bcm.edu	37	19	6468935	6468936	+	Frame_Shift_Ins	INS	-	-	C			TCGA-P4-AAVM-01A-11D-A42J-10	TCGA-P4-AAVM-11A-11D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c5d3340-513d-4576-8298-848fee2f3edc	2e812561-7f51-41c5-bdb3-4861f646b630	g.chr19:6468935_6468936insC	ENST00000381480.2	-	20	1548_1549	c.1436_1437insG	c.(1435-1437)ggcfs	p.G479fs	DENND1C_ENST00000543576.1_Frame_Shift_Ins_p.G435fs	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	479					positive regulation of Rab GTPase activity (GO:0032851)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						CCCTCAGAGAGCCCCCCCTCTG	0.624																																																0																																										SO:0001589	frameshift_variant	79958			AL713770	CCDS45938.1	19p13.3	2014-02-06	2005-08-17	2005-08-17	ENSG00000205744	ENSG00000205744		"DENN/MADD domain containing"	26225	protein-coding gene	gene with protein product		613634	"family with sequence similarity 31, member C"	FAM31C		12477932	Standard	XM_005259646		Approved	FLJ22757	uc002mfe.3	Q8IV53	OTTHUMG00000180853	ENST00000381480.2:c.1437dupG	chr19.hg19:g.6468942_6468942dupC	ENSP00000370889:p.Gly479fs		B4E051|D3PFD4|Q8NDB1|Q9H5Z2	Frame_Shift_Ins	INS	ENST00000381480.2	hg19	CCDS45938.1																																																																																				0.624	DENND1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453332.2	NM_024898		C	6468936	-	C	6468935	7	5	778	1	0	1	1	0	0	0	0	0	4430	958	34	0	984	0	DENND1C	19	6468935	Frame_Shift_Ins	INS	-	TCGA-P4-AAVM-01A-11D-A42J-10		6468935	52660048	50	46027											
SH2D3A	10045	hgsc.bcm.edu	37	19	6760717	6760717	+	Missense_Mutation	SNP	C	C	A			TCGA-P4-AAVM-01A-11D-A42J-10	TCGA-P4-AAVM-11A-11D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c5d3340-513d-4576-8298-848fee2f3edc	2e812561-7f51-41c5-bdb3-4861f646b630	g.chr19:6760717C>A	ENST00000245908.6	-	3	620	c.351G>T	c.(349-351)caG>caT	p.Q117H	SH2D3A_ENST00000437152.3_Intron|SH2D3A_ENST00000599563.1_5'UTR	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	117					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						GCAGAGGCCCCTGCCAAGTCA	0.602																																																0													44	43	43					19																	6760717		2203	4300	6503	SO:0001583	missense	10045			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.351G>T	chr19.hg19:g.6760717C>A	ENSP00000245908:p.Gln117His		A8K9R6|B4DRS7|Q9Y2X4	Missense_Mutation	SNP	ENST00000245908.6	hg19	CCDS12173.1	.	.	.	.	.	.	.	.	.	.	C	7.064	0.566967	0.13560	.	.	ENSG00000125731	ENST00000245908	T	0.15256	2.44	4.97	1.25	0.21368	.	0.365819	0.20012	N	0.101107	T	0.10723	0.0262	L	0.39898	1.24	0.09310	N	1	B	0.11235	0.004	B	0.15052	0.012	T	0.23940	-1.0174	10	0.49607	T	0.09	-11.0037	0.6632	0.00846	0.1949:0.3795:0.1695:0.2561	.	117	Q9BRG2	SH23A_HUMAN	H	117	ENSP00000245908:Q117H	ENSP00000245908:Q117H	Q	-	3	2	SH2D3A	6711717	0.000000	0.05858	0.065000	0.19835	0.429000	0.31625	-0.503000	0.06383	0.533000	0.28675	-0.263000	0.10527	CAG		0.602	SH2D3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458016.1	NM_005490		A	6760717	C	A	6760717	3	1	778	1	0	0	0	0	1	0	0	0	14239	680	24	4	1411	4	SH2D3A	19	6760717	Missense_Mutation	SNP	C	TCGA-P4-AAVM-01A-11D-A42J-10	291782	6760717	52368266	51	46028											
HSD17B14	51171	hgsc.bcm.edu	37	19	49316726	49316726	+	Missense_Mutation	SNP	C	C	G			TCGA-P4-AAVM-01A-11D-A42J-10	TCGA-P4-AAVM-11A-11D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c5d3340-513d-4576-8298-848fee2f3edc	2e812561-7f51-41c5-bdb3-4861f646b630	g.chr19:49316726C>G	ENST00000263278.4	-	8	892	c.626G>C	c.(625-627)gGc>gCc	p.G209A	BCAT2_ENST00000598162.1_5'Flank|HSD17B14_ENST00000599157.1_Missense_Mutation_p.G185A|BCAT2_ENST00000316273.6_5'Flank|BCAT2_ENST00000545387.2_5'Flank|BCAT2_ENST00000402551.1_5'Flank|BCAT2_ENST00000601496.1_5'Flank|BCAT2_ENST00000599246.1_5'Flank|BCAT2_ENST00000597011.1_5'Flank	NM_016246.2	NP_057330.2	Q9BPX1	DHB14_HUMAN	hydroxysteroid (17-beta) dehydrogenase 14	209					steroid catabolic process (GO:0006706)	cytosol (GO:0005829)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|testosterone 17-beta-dehydrogenase (NADP+) activity (GO:0047045)			large_intestine(3)|lung(1)|skin(1)	5		all_epithelial(76;7e-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;0.000341)|all cancers(93;0.000764)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.0346)		GGCCAGCATGCCCTCTCGGAT	0.607																																																0													76	54	61					19																	49316726		2203	4299	6502	SO:0001583	missense	51171			AF126781	CCDS12736.1	19q13.33	2011-09-14	2006-11-22	2006-11-22		ENSG00000087076		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	23238	protein-coding gene	gene with protein product	"retinal short-chain dehydrogenase/reductase 3", "short chain dehydrogenase/reductase family 47C, member 1"	612832	"dehydrogenase/reductase (SDR family) member 10"	DHRS10		10800688, 17067289, 19027726	Standard	XM_005258969		Approved	retSDR3, SDR47C1	uc002pkv.1	Q9BPX1		ENST00000263278.4:c.626G>C	chr19.hg19:g.49316726C>G	ENSP00000263278:p.Gly209Ala		Q9UKU3	Missense_Mutation	SNP	ENST00000263278.4	hg19	CCDS12736.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.700653	0.48307	.	.	ENSG00000087076	ENST00000263278	T	0.20200	2.09	4.43	2.25	0.28309	NAD(P)-binding domain (1);	0.190085	0.43747	N	0.000525	T	0.11707	0.0285	N	0.01197	-0.965	0.47094	D	0.999316	D	0.71674	0.998	P	0.61003	0.882	T	0.18241	-1.0343	10	0.16420	T	0.52	.	7.2282	0.26028	0.0:0.7222:0.1783:0.0996	.	209	Q9BPX1	DHB14_HUMAN	A	209	ENSP00000263278:G209A	ENSP00000263278:G209A	G	-	2	0	HSD17B14	54008538	0.875000	0.30112	0.307000	0.25127	0.408000	0.30992	2.277000	0.43417	1.124000	0.41980	0.462000	0.41574	GGC		0.607	HSD17B14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466212.1	NM_016246		G	49316726	C	G	49316726	3	3	778	1	0	0	0	0	1	0	0	0	7385	739	26	4	194	4	HSD17B14	19	49316726	Missense_Mutation	SNP	C	TCGA-P4-AAVM-01A-11D-A42J-10	42556009	49316726	9812257	52	46029											
ZNF836	162962	hgsc.bcm.edu	37	19	52663822	52663822	+	Missense_Mutation	SNP	A	A	T			TCGA-P4-AAVM-01A-11D-A42J-10	TCGA-P4-AAVM-11A-11D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c5d3340-513d-4576-8298-848fee2f3edc	2e812561-7f51-41c5-bdb3-4861f646b630	g.chr19:52663822A>T	ENST00000322146.8	-	4	559	c.38T>A	c.(37-39)gTa>gAa	p.V13E	ZNF836_ENST00000597065.1_Missense_Mutation_p.V13E|CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Missense_Mutation_p.V13E	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	13	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TTCTATGGCTACATCCCTGAA	0.438																																																0													89	95	93					19																	52663822		2202	4300	6502	SO:0001583	missense	162962			BC011784	CCDS46162.1	19q13.33	2013-01-08			ENSG00000196267	ENSG00000196267		"Zinc fingers, C2H2-type", "-"	34333	protein-coding gene	gene with protein product							Standard	NM_001102657		Approved	FLJ16287	uc010ydj.2	Q6ZNA1		ENST00000322146.8:c.38T>A	chr19.hg19:g.52663822A>T	ENSP00000325038:p.Val13Glu			Missense_Mutation	SNP	ENST00000322146.8	hg19	CCDS46162.1	.	.	.	.	.	.	.	.	.	.	A	11.56	1.674755	0.29783	.	.	ENSG00000196267	ENST00000322146	T	0.10477	2.87	1.99	1.99	0.26369	Krueppel-associated box (4);	.	.	.	.	T	0.30510	0.0767	H	0.99090	4.425	0.18873	N	0.999988	B	0.30236	0.274	B	0.32805	0.153	T	0.37009	-0.9724	9	0.87932	D	0	.	7.554	0.27814	1.0:0.0:0.0:0.0	.	13	Q6ZNA1	ZN836_HUMAN	E	13	ENSP00000325038:V13E	ENSP00000325038:V13E	V	-	2	0	ZNF836	57355634	0.924000	0.31332	0.451000	0.26982	0.975000	0.68041	1.321000	0.33678	0.897000	0.36392	0.358000	0.22013	GTA		0.438	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462456.1	NM_001102657		T	52663822	A	T	52663822	3	4	778	1	0	0	0	0	1	0	0	0	18192	391	14	5	2778	5	ZNF836	19	52663822	Missense_Mutation	SNP	A	TCGA-P4-AAVM-01A-11D-A42J-10	3347096	52663822	6465161	53	46030											
C20orf26	26074	hgsc.bcm.edu	37	20	20226857	20226857	+	Silent	SNP	C	C	T	rs114266049	byFrequency	TCGA-P4-AAVM-01A-11D-A42J-10	TCGA-P4-AAVM-11A-11D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c5d3340-513d-4576-8298-848fee2f3edc	2e812561-7f51-41c5-bdb3-4861f646b630	g.chr20:20226857C>T	ENST00000245957.5	+	19	2233	c.2157C>T	c.(2155-2157)agC>agT	p.S719S	C20orf26_ENST00000377293.1_Silent_p.S75S|C20orf26_ENST00000389656.3_Silent_p.S75S|C20orf26_ENST00000377309.2_Silent_p.S75S	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		719										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)		TTTTAGCCAGCGAGTATGAAT	0.358																																																0													75	83	80					20																	20226857		2203	4300	6503	SO:0001819	synonymous_variant	26074																														ENST00000245957.5:c.2157C>T	chr20.hg19:g.20226857C>T			A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Silent	SNP	ENST00000245957.5	hg19	CCDS33447.1																																																																																				0.358	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			T	20226857	C	T	20226857	2	4	778	1	0	0	0	0	0	0	0	1	2108	767	27	1		1	C20orf26	20	20226857	Silent	SNP	C	TCGA-P4-AAVM-01A-11D-A42J-10		20226857	42798663	54	46031											
PPIL2	23759	hgsc.bcm.edu	37	22	22024222	22024222	+	Missense_Mutation	SNP	A	A	T			TCGA-P4-AAVM-01A-11D-A42J-10	TCGA-P4-AAVM-11A-11D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c5d3340-513d-4576-8298-848fee2f3edc	2e812561-7f51-41c5-bdb3-4861f646b630	g.chr22:22024222A>T	ENST00000335025.8	+	2	144	c.53A>T	c.(52-54)tAc>tTc	p.Y18F	PPIL2_ENST00000412327.1_Missense_Mutation_p.Y18F|PPIL2_ENST00000456792.2_Missense_Mutation_p.Y18F|PPIL2_ENST00000492445.2_Missense_Mutation_p.Y18F|PPIL2_ENST00000398831.3_Missense_Mutation_p.Y18F|PPIL2_ENST00000406385.1_Missense_Mutation_p.Y18F					peptidylprolyl isomerase (cyclophilin)-like 2											endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					TGTGCTGAATACACTCACTTT	0.448																																																0													199	161	174					22																	22024222		2203	4300	6503	SO:0001583	missense	23759				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.53A>T	chr22.hg19:g.22024222A>T	ENSP00000334553:p.Tyr18Phe			Missense_Mutation	SNP	ENST00000335025.8	hg19	CCDS13793.1	.	.	.	.	.	.	.	.	.	.	A	17.87	3.494928	0.64186	.	.	ENSG00000100023	ENST00000412327;ENST00000335025;ENST00000398831;ENST00000492445;ENST00000458567;ENST00000406385;ENST00000456792	T;T;T;T;T;T	0.28454	1.66;1.7;1.7;1.7;1.7;1.61	4.39	4.39	0.52855	.	0.071138	0.64402	D	0.000017	T	0.34890	0.0913	L	0.59436	1.845	0.50632	D	0.999883	P;P;P	0.47409	0.61;0.868;0.895	B;P;B	0.46299	0.219;0.511;0.313	T	0.22591	-1.0212	10	0.87932	D	0	.	10.2502	0.43364	1.0:0.0:0.0:0.0	.	18;18;18	E7EW80;Q13356-2;Q13356	.;.;PPIL2_HUMAN	F	18;18;18;18;49;18;18	ENSP00000390427:Y18F;ENSP00000334553:Y18F;ENSP00000381812:Y18F;ENSP00000445312:Y18F;ENSP00000384299:Y18F;ENSP00000396228:Y18F	ENSP00000334553:Y18F	Y	+	2	0	PPIL2	20354222	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	4.011000	0.57124	1.974000	0.57490	0.456000	0.33151	TAC		0.448	PPIL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075028.4			T	22024222	A	T	22024222	3	4	778	1	0	0	0	0	1	0	0	0	12332	391	14	5	59	5	PPIL2	22	22024222	Missense_Mutation	SNP	A	TCGA-P4-AAVM-01A-11D-A42J-10		22024222	29280344	55	46032											
SKI	6497	hgsc.bcm.edu	37	1	2238153	2238153	+	Silent	SNP	G	G	A			TCGA-PJ-A5Z8-01A-11D-A28G-10	TCGA-PJ-A5Z8-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8661bd12-fa20-4263-b1ab-034a4b225560	32a7ff68-4d91-4377-bc04-dd8688d15196	g.chr1:2238153G>A	ENST00000378536.4	+	7	2208	c.2136G>A	c.(2134-2136)cgG>cgA	p.R712R		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	SKI proto-oncogene	712					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)		TGTGGCCGCGGGCCCGCCCCG	0.761																																					Ovarian(177;144 1678 13697 20086 27838 40755)											0													5	6	6					1																	2238153		1501	2825	4326	SO:0001819	synonymous_variant	6497			X15218	CCDS39.1	1p36.33	2014-06-25	2014-06-25		ENSG00000157933	ENSG00000157933		"SKI transcriptional corepressors"	10896	protein-coding gene	gene with protein product		164780	"v-ski avian sarcoma viral oncogene homolog"			2762147	Standard	NM_003036		Approved		uc001aja.4	P12755	OTTHUMG00000001407	ENST00000378536.4:c.2136G>A	chr1.hg19:g.2238153G>A			Q5SYT7	Silent	SNP	ENST00000378536.4	hg19	CCDS39.1																																																																																				0.761	SKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004070.1	NM_003036		A	2238153	G	A	2238153	2	1	779	1	0	0	0	0	0	0	0	1	14363	1219	43	2		2	SKI	1	2238153	Silent	SNP	G	TCGA-PJ-A5Z8-01A-11D-A28G-10		2238153	247012468	1	46033											
ARID1A	8289	hgsc.bcm.edu	37	1	27101241	27101241	+	Missense_Mutation	SNP	A	A	G			TCGA-PJ-A5Z8-01A-11D-A28G-10	TCGA-PJ-A5Z8-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8661bd12-fa20-4263-b1ab-034a4b225560	32a7ff68-4d91-4377-bc04-dd8688d15196	g.chr1:27101241A>G	ENST00000324856.7	+	18	4894	c.4523A>G	c.(4522-4524)tAt>tGt	p.Y1508C	ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000374152.2_Missense_Mutation_p.Y1125C	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1508					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)		ACCTATAATTATGCCAACAGG	0.572			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																		Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0													68	72	71					1																	27101241		2203	4300	6503	SO:0001583	missense	8289			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.4523A>G	chr1.hg19:g.27101241A>G	ENSP00000320485:p.Tyr1508Cys		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	hg19	CCDS285.1	.	.	.	.	.	.	.	.	.	.	A	18.56	3.650090	0.67472	.	.	ENSG00000117713	ENST00000324856;ENST00000374152	T;T	0.05996	3.53;3.36	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.22666	0.0547	M	0.61703	1.905	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.83275	0.991;0.99;0.996	T	0.00175	-1.1954	10	0.44086	T	0.13	-5.0146	15.8453	0.78883	1.0:0.0:0.0:0.0	.	1125;1508;1161	O14497-3;O14497;Q4LE49	.;ARI1A_HUMAN;.	C	1508;1125	ENSP00000320485:Y1508C;ENSP00000363267:Y1125C	ENSP00000320485:Y1508C	Y	+	2	0	ARID1A	26973828	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	6.707000	0.74654	2.330000	0.79161	0.528000	0.53228	TAT		0.572	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		G	27101241	A	G	27101241	3	3	779	1	0	0	0	0	1	0	0	0	913	449	16	3	4593	3	ARID1A	1	27101241	Missense_Mutation	SNP	A	TCGA-PJ-A5Z8-01A-11D-A28G-10	24863088	27101241	222149380	2	46034											
DLGAP3	58512	hgsc.bcm.edu	37	1	35331687	35331687	+	Silent	SNP	C	C	T			TCGA-PJ-A5Z8-01A-11D-A28G-10	TCGA-PJ-A5Z8-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8661bd12-fa20-4263-b1ab-034a4b225560	32a7ff68-4d91-4377-bc04-dd8688d15196	g.chr1:35331687C>T	ENST00000373347.1	-	12	3205	c.2937G>A	c.(2935-2937)ctG>ctA	p.L979L	DLGAP3_ENST00000235180.4_Silent_p.L979L			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	979					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)				ggaccggtcacagcctggtct	0.731																																																0													11	13	12					1																	35331687		2181	4267	6448	SO:0001819	synonymous_variant	58512			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.2937G>A	chr1.hg19:g.35331687C>T			Q5TDD5|Q9H3X7	Silent	SNP	ENST00000373347.1	hg19	CCDS30670.1																																																																																				0.731	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011554.1	NM_021234		T	35331687	C	T	35331687	2	4	779	1	0	0	0	0	0	0	0	1	4563	465	17	2		2	DLGAP3	1	35331687	Silent	SNP	C	TCGA-PJ-A5Z8-01A-11D-A28G-10	8230446	35331687	213918934	3	46035											
ANKRD35	148741	hgsc.bcm.edu	37	1	145567075	145567075	+	Missense_Mutation	SNP	C	C	T			TCGA-PJ-A5Z8-01A-11D-A28G-10	TCGA-PJ-A5Z8-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8661bd12-fa20-4263-b1ab-034a4b225560	32a7ff68-4d91-4377-bc04-dd8688d15196	g.chr1:145567075C>T	ENST00000355594.4	+	12	3010	c.2923C>T	c.(2923-2925)Cat>Tat	p.H975Y		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	975										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTACAGGAATCATCTACTGAA	0.473																																					Melanoma(9;127 754 22988 51047)											0													168	155	160					1																	145567075		2203	4300	6503	SO:0001583	missense	148741			AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"Ankyrin repeat domain containing"	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.2923C>T	chr1.hg19:g.145567075C>T	ENSP00000347802:p.His975Tyr		A6NEU0|B4DL62|Q3MJ10|Q96LS3	Missense_Mutation	SNP	ENST00000355594.4	hg19	CCDS919.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.780583	0.49891	.	.	ENSG00000198483	ENST00000453670;ENST00000355594	T	0.58652	0.32	5.12	5.12	0.69794	.	0.000000	0.47852	D	0.000209	T	0.69878	0.3160	M	0.74881	2.28	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.73266	-0.4037	10	0.87932	D	0	-3.866	13.9259	0.63961	0.0:1.0:0.0:0.0	.	975	Q8N283	ANR35_HUMAN	Y	884;975	ENSP00000347802:H975Y	ENSP00000347802:H975Y	H	+	1	0	ANKRD35	144278432	0.991000	0.36638	0.888000	0.34837	0.244000	0.25665	2.767000	0.47637	2.679000	0.91253	0.655000	0.94253	CAT		0.473	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	NM_144698		T	145567075	C	T	145567075	3	4	779	1	0	0	0	0	1	0	0	0	664	826	29	2	2969	2	ANKRD35	1	145567075	Missense_Mutation	SNP	C	TCGA-PJ-A5Z8-01A-11D-A28G-10	110235388	145567075	103683546	4	46036											
PKP1	5317	hgsc.bcm.edu	37	1	201285751	201285751	+	Missense_Mutation	SNP	G	G	A			TCGA-PJ-A5Z8-01A-11D-A28G-10	TCGA-PJ-A5Z8-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8661bd12-fa20-4263-b1ab-034a4b225560	32a7ff68-4d91-4377-bc04-dd8688d15196	g.chr1:201285751G>A	ENST00000352845.3	+	4	772	c.772G>A	c.(772-774)Gat>Aat	p.D258N	PKP1_ENST00000367324.3_Missense_Mutation_p.D258N|PKP1_ENST00000475988.1_3'UTR|PKP1_ENST00000263946.3_Missense_Mutation_p.D258N			Q13835	PKP1_HUMAN	plakophilin 1	258					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						GAGCTCCCAGGATGAGAAATA	0.537																																																0													83	62	69					1																	201285751		2203	4300	6503	SO:0001583	missense	5317			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.772G>A	chr1.hg19:g.201285751G>A	ENSP00000295597:p.Asp258Asn		O00645|Q14CA0|Q15152	Missense_Mutation	SNP	ENST00000352845.3	hg19	CCDS30966.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.844590	0.51164	.	.	ENSG00000081277	ENST00000367324;ENST00000263946;ENST00000352845	T;T;T	0.55588	0.51;0.51;0.51	4.91	3.96	0.45880	Armadillo-like helical (1);Armadillo-type fold (1);	0.200242	0.51477	D	0.000089	T	0.45397	0.1340	L	0.49778	1.585	0.53688	D	0.99997	P;P	0.49253	0.741;0.921	B;B	0.40940	0.344;0.33	T	0.34428	-0.9829	10	0.19147	T	0.46	-15.2438	14.2686	0.66138	0.0:0.0:0.8497:0.1502	.	258;258	Q13835-2;Q13835	.;PKP1_HUMAN	N	258	ENSP00000356293:D258N;ENSP00000263946:D258N;ENSP00000295597:D258N	ENSP00000263946:D258N	D	+	1	0	PKP1	199552374	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	7.782000	0.85680	1.008000	0.39264	0.591000	0.81541	GAT		0.537	PKP1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000086897.1	NM_000299		A	201285751	G	A	201285751	3	1	779	1	0	0	0	0	1	0	0	0	11986	1174	41	2	786	2	PKP1	1	201285751	Missense_Mutation	SNP	G	TCGA-PJ-A5Z8-01A-11D-A28G-10	55718676	201285751	47964870	5	46037											
TAF5L	27097	hgsc.bcm.edu	37	1	229730727	229730727	+	Missense_Mutation	SNP	C	C	T			TCGA-PJ-A5Z8-01A-11D-A28G-10	TCGA-PJ-A5Z8-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8661bd12-fa20-4263-b1ab-034a4b225560	32a7ff68-4d91-4377-bc04-dd8688d15196	g.chr1:229730727C>T	ENST00000366676.1	-	4	1086	c.1087G>A	c.(1087-1089)Gac>Aac	p.D363N	TAF5L_ENST00000258281.2_Missense_Mutation_p.D363N			O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	363					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				ATGGACATGTCTTCAGAACAA	0.527																																																0													121	102	108					1																	229730727		2203	4300	6503	SO:0001583	missense	27097			AF069736	CCDS1581.1, CCDS31051.1	1q42.11-q42.3	2013-01-10	2002-08-29		ENSG00000135801	ENSG00000135801		"WD repeat domain containing"	17304	protein-coding gene	gene with protein product	"PCAF associated factor 65 beta"		"TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"			9674425, 11124703	Standard	XM_005273100		Approved	PAF65B	uc001htq.3	O75529	OTTHUMG00000039463	ENST00000366676.1:c.1087G>A	chr1.hg19:g.229730727C>T	ENSP00000355636:p.Asp363Asn		Q5TDI5|Q5TDI6|Q8IW31	Missense_Mutation	SNP	ENST00000366676.1	hg19	CCDS1581.1	.	.	.	.	.	.	.	.	.	.	C	33	5.238803	0.95240	.	.	ENSG00000135801	ENST00000366676;ENST00000258281	D;D	0.88975	-2.45;-2.45	5.88	5.88	0.94601	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	0.96027	0.8706	M	0.91920	3.255	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96166	0.9119	10	0.87932	D	0	-34.0939	20.2422	0.98381	0.0:1.0:0.0:0.0	.	363	O75529	TAF5L_HUMAN	N	363	ENSP00000355636:D363N;ENSP00000258281:D363N	ENSP00000258281:D363N	D	-	1	0	TAF5L	227797350	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.811000	0.86092	2.782000	0.95742	0.655000	0.94253	GAC		0.527	TAF5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095229.1	NM_014409		T	229730727	C	T	229730727	3	4	779	1	0	0	0	0	1	0	0	0	15534	913	32	2	686	2	TAF5L	1	229730727	Missense_Mutation	SNP	C	TCGA-PJ-A5Z8-01A-11D-A28G-10	28444976	229730727	19519894	6	46038											
HEATR5B	54497	hgsc.bcm.edu	37	2	37286106	37286107	+	Frame_Shift_Ins	INS	-	-	A			TCGA-PJ-A5Z8-01A-11D-A28G-10	TCGA-PJ-A5Z8-10A-01D-A28G-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8661bd12-fa20-4263-b1ab-034a4b225560	32a7ff68-4d91-4377-bc04-dd8688d15196	g.chr2:37286106_37286107insA	ENST00000233099.5	-	13	1968_1969	c.1873_1874insT	c.(1873-1875)tgtfs	p.C625fs	HEATR5B_ENST00000354531.2_Frame_Shift_Ins_p.C625fs	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	625						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)				TAGCTCAGGACAATGTGCAACG	0.347																																																0																																										SO:0001589	frameshift_variant	54497			AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.1874dupT	chr2.hg19:g.37286108_37286108dupA	ENSP00000233099:p.Cys625fs		B5MDU8|Q7Z3B2|Q9NVL7	Frame_Shift_Ins	INS	ENST00000233099.5	hg19	CCDS33181.1																																																																																				0.347	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		A	37286107	-	A	37286106	7	5	779	1	0	1	1	0	0	0	0	0	7034	478	17	0	4437	0	HEATR5B	2	37286106	Frame_Shift_Ins	INS	-	TCGA-PJ-A5Z8-01A-11D-A28G-10		37286106	205913267	7	46039											
GKN1	56287	hgsc.bcm.edu	37	2	69207170	69207170	+	Silent	SNP	A	A	G			TCGA-PJ-A5Z8-01A-11D-A28G-10	TCGA-PJ-A5Z8-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8661bd12-fa20-4263-b1ab-034a4b225560	32a7ff68-4d91-4377-bc04-dd8688d15196	g.chr2:69207170A>G	ENST00000377938.2	+	5	546	c.483A>G	c.(481-483)acA>acG	p.T161T		NM_019617.3	NP_062563.3	Q9NS71	GKN1_HUMAN	gastrokine 1	161	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.				digestion (GO:0007586)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)	extracellular region (GO:0005576)|secretory granule (GO:0030141)				breast(2)|large_intestine(4)|lung(5)	11						GGATTCCAACATACATGGCTG	0.507																																																0													156	111	126					2																	69207170		2203	4300	6503	SO:0001819	synonymous_variant	56287			AY139182	CCDS1891.2	2p13.3	2012-10-10			ENSG00000169605	ENSG00000169605		"BRICHOS domain containing"	23217	protein-coding gene	gene with protein product	"BRICHOS domain containing 1"	606402				12851218, 11562744	Standard	NM_019617		Approved	AMP18, CA11, BRICD1	uc002sfc.3	Q9NS71	OTTHUMG00000129574	ENST00000377938.2:c.483A>G	chr2.hg19:g.69207170A>G			Q8IUA9	Silent	SNP	ENST00000377938.2	hg19	CCDS1891.2																																																																																				0.507	GKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251769.2	NM_019617		G	69207170	A	G	69207170	2	3	779	1	0	0	0	0	0	0	0	1	6426	204	8	3		3	GKN1	2	69207170	Silent	SNP	A	TCGA-PJ-A5Z8-01A-11D-A28G-10	31921064	69207170	173992203	8	46040											
POLR1B	84172	hgsc.bcm.edu	37	2	113330280	113330285	+	In_Frame_Del	DEL	CCAATG	CCAATG	-			TCGA-PJ-A5Z8-01A-11D-A28G-10	TCGA-PJ-A5Z8-10A-01D-A28G-10	CCAATG	CCAATG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8661bd12-fa20-4263-b1ab-034a4b225560	32a7ff68-4d91-4377-bc04-dd8688d15196	g.chr2:113330280_113330285delCCAATG	ENST00000263331.5	+	13	2796_2801	c.2216_2221delCCAATG	c.(2215-2223)accaatgcc>acc	p.NA740del	POLR1B_ENST00000537335.1_In_Frame_Del_p.NA529del|POLR1B_ENST00000417433.2_In_Frame_Del_p.NA684del|POLR1B_ENST00000541869.1_In_Frame_Del_p.NA778del|POLR1B_ENST00000409894.3_In_Frame_Del_p.NA557del	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	740					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						CCAATTGGGACCAATGCCATCGTTGC	0.393																																					Ovarian(16;256 576 9537 23969 41147)											0																																										SO:0001651	inframe_deletion	84172			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.2216_2221delCCAATG	chr2.hg19:g.113330280_113330285delCCAATG	ENSP00000263331:p.Asn740_Ala741del		B7Z6Y7|B7Z823|F5GZX4|F8W898|Q2TAM4|Q585T5|Q6ZRR2|Q9H9D3	In_Frame_Del	DEL	ENST00000263331.5	hg19	CCDS2097.1																																																																																				0.393	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254083.1	NM_019014		-	113330285	CCAATG	-	113330280	7	5	779	1	0	1	0	1	0	0	0	0	12212	507	18	0	2266	0	POLR1B	2	113330280	In_Frame_Del	DEL	CCAATG	TCGA-PJ-A5Z8-01A-11D-A28G-10	44123110	113330280	129869093	9	46041											
DCAF17	80067	hgsc.bcm.edu	37	2	172333421	172333421	+	Silent	SNP	T	T	A			TCGA-PJ-A5Z8-01A-11D-A28G-10	TCGA-PJ-A5Z8-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8661bd12-fa20-4263-b1ab-034a4b225560	32a7ff68-4d91-4377-bc04-dd8688d15196	g.chr2:172333421T>A	ENST00000375255.3	+	11	1470	c.1143T>A	c.(1141-1143)tcT>tcA	p.S381S	DCAF17_ENST00000468592.1_3'UTR|DCAF17_ENST00000539783.1_Intron	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17	381					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						ATCAGATCTCTGAAGATTTTG	0.323																																																0													70	72	71					2																	172333421		2203	4300	6503	SO:0001819	synonymous_variant	80067			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.1143T>A	chr2.hg19:g.172333421T>A			B2RTW5|Q53TN3|Q9H908	Silent	SNP	ENST00000375255.3	hg19	CCDS2243.2	.	.	.	.	.	.	.	.	.	.	T	10.52	1.373792	0.24857	.	.	ENSG00000115827	ENST00000339506;ENST00000431110	.	.	.	5.55	4.37	0.52481	.	.	.	.	.	T	0.46405	0.1391	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43015	-0.9417	4	.	.	.	-6.982	2.2645	0.04075	0.1969:0.0804:0.1334:0.5893	.	.	.	.	Q	132;83	.	.	L	+	2	0	DCAF17	172041667	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.499000	0.35671	0.913000	0.36797	0.472000	0.43445	CTG		0.323	DCAF17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255342.2	NM_025000		A	172333421	T	A	172333421	2	1	779	1	0	0	0	0	0	0	0	1	4271	1567	55	5		5	DCAF17	2	172333421	Silent	SNP	T	TCGA-PJ-A5Z8-01A-11D-A28G-10	59003141	172333421	70865952	10	46042											
SLC40A1	30061	hgsc.bcm.edu	37	2	190437577	190437577	+	Missense_Mutation	SNP	C	C	A			TCGA-PJ-A5Z8-01A-11D-A28G-10	TCGA-PJ-A5Z8-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8661bd12-fa20-4263-b1ab-034a4b225560	32a7ff68-4d91-4377-bc04-dd8688d15196	g.chr2:190437577C>A	ENST00000261024.2	-	4	808	c.382G>T	c.(382-384)Gtt>Ttt	p.V128F	SLC40A1_ENST00000418714.1_5'Flank	NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	128					anatomical structure morphogenesis (GO:0009653)|cellular iron ion homeostasis (GO:0006879)|endothelium development (GO:0003158)|iron ion transmembrane transport (GO:0034755)|lymphocyte homeostasis (GO:0002260)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of apoptotic process (GO:0043066)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|spleen trabecula formation (GO:0060345)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	iron ion transmembrane transporter activity (GO:0005381)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			CTTACGAGAACCCATCCATGG	0.393																																																0													83	78	80					2																	190437577		2203	4300	6503	SO:0001583	missense	30061			AF215636	CCDS2299.1	2q32	2014-09-17	2003-06-04	2003-06-05	ENSG00000138449	ENSG00000138449		"Solute carriers"	10909	protein-coding gene	gene with protein product	"ferroportin 1"	604653	"solute carrier family 11 (proton-coupled divalent metal ion transporters), member 3"	SLC11A3		10828623	Standard	NM_014585		Approved	MTP1, IREG1, FPN1, HFE4	uc002uqp.4	Q9NP59	OTTHUMG00000132662	ENST00000261024.2:c.382G>T	chr2.hg19:g.190437577C>A	ENSP00000261024:p.Val128Phe		Q6FI62|Q7Z4F8|Q8IVB2|Q9NRL0	Missense_Mutation	SNP	ENST00000261024.2	hg19	CCDS2299.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.911373	0.33721	.	.	ENSG00000138449	ENST00000261024;ENST00000427241	D;D	0.94280	-3.39;-3.39	6.03	1.03	0.20045	Major facilitator superfamily domain, general substrate transporter (1);	0.604283	0.17891	N	0.158506	D	0.83848	0.5343	N	0.17474	0.49	0.42059	D	0.991157	B;B	0.09022	0.002;0.002	B;B	0.14578	0.011;0.011	T	0.70040	-0.4981	10	0.20519	T	0.43	-3.6976	7.1323	0.25508	0.0:0.3425:0.3929:0.2646	.	128;128	A8K7Y1;Q9NP59	.;S40A1_HUMAN	F	128	ENSP00000261024:V128F;ENSP00000390005:V128F	ENSP00000261024:V128F	V	-	1	0	SLC40A1	190145822	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	0.700000	0.25601	0.124000	0.18369	0.655000	0.94253	GTT		0.393	SLC40A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255916.2			A	190437577	C	A	190437577	3	1	779	1	0	0	0	0	1	0	0	0	14634	507	18	4	1353	4	SLC40A1	2	190437577	Missense_Mutation	SNP	C	TCGA-PJ-A5Z8-01A-11D-A28G-10	18104156	190437577	52761796	11	46043											
GLS	2744	hgsc.bcm.edu	37	2	191795284	191795284	+	Missense_Mutation	SNP	A	A	G			TCGA-PJ-A5Z8-01A-11D-A28G-10	TCGA-PJ-A5Z8-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8661bd12-fa20-4263-b1ab-034a4b225560	32a7ff68-4d91-4377-bc04-dd8688d15196	g.chr2:191795284A>G	ENST00000320717.3	+	13	1805	c.1547A>G	c.(1546-1548)cAc>cGc	p.H516R	GLS_ENST00000409215.1_Missense_Mutation_p.H21R|GLS_ENST00000409626.1_Missense_Mutation_p.H87R|GLS_ENST00000409428.1_Missense_Mutation_p.H21R|GLS_ENST00000338435.4_Missense_Mutation_p.H516R	NM_014905.4	NP_055720.3	O94925	GLSK_HUMAN	glutaminase	516					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate secretion (GO:0014047)|glutamine catabolic process (GO:0006543)|neurotransmitter secretion (GO:0007269)|protein homotetramerization (GO:0051289)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|small molecule metabolic process (GO:0044281)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glutaminase activity (GO:0004359)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamine(DB00130)	AAGGGAATTCACTTTTGTCAC	0.383																																																0													128	119	122					2																	191795284		2203	4300	6503	SO:0001583	missense	2744			AB020645	CCDS2308.1, CCDS58744.1	2q32-q34	2013-01-10			ENSG00000115419	ENSG00000115419	3.5.1.2	"Ankyrin repeat domain containing"	4331	protein-coding gene	gene with protein product		138280				10048485	Standard	NM_014905		Approved	KIAA0838, GLS1	uc002usf.3	O94925	OTTHUMG00000132701	ENST00000320717.3:c.1547A>G	chr2.hg19:g.191795284A>G	ENSP00000317379:p.His516Arg		Q9UL05|Q9UL06|Q9UL07|Q9UN40	Missense_Mutation	SNP	ENST00000320717.3	hg19	CCDS2308.1	.	.	.	.	.	.	.	.	.	.	A	13.95	2.388942	0.42308	.	.	ENSG00000115419	ENST00000320717;ENST00000338435;ENST00000409626;ENST00000457316;ENST00000409428;ENST00000409215;ENST00000412247	T;T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06;1.06	5.84	5.84	0.93424	Beta-lactamase/transpeptidase-like (1);	0.049755	0.85682	D	0.000000	T	0.26195	0.0639	N	0.10664	0.02	0.54753	D	0.999986	B;B;B;B;B	0.12013	0.003;0.003;0.001;0.003;0.005	B;B;B;B;B	0.12156	0.004;0.006;0.003;0.006;0.007	T	0.06972	-1.0797	10	0.27082	T	0.32	-4.505	16.2233	0.82274	1.0:0.0:0.0:0.0	.	87;516;170;516;516	B7Z2P1;A8K132;Q68D38;O94925;O94925-3	.;.;.;GLSK_HUMAN;.	R	516;516;87;87;21;21;37	ENSP00000317379:H516R;ENSP00000340689:H516R;ENSP00000386417:H87R;ENSP00000395596:H87R;ENSP00000387177:H21R;ENSP00000387135:H21R;ENSP00000403329:H37R	ENSP00000317379:H516R	H	+	2	0	GLS	191503529	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.339000	0.96797	2.243000	0.73865	0.482000	0.46254	CAC		0.383	GLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255999.2			G	191795284	A	G	191795284	3	3	779	1	0	0	0	0	1	0	0	0	6465	159	6	3	1597	3	GLS	2	191795284	Missense_Mutation	SNP	A	TCGA-PJ-A5Z8-01A-11D-A28G-10	1357707	191795284	51404089	12	46044											
PGAP1	80055	hgsc.bcm.edu	37	2	197791195	197791195	+	Splice_Site	SNP	T	T	A			TCGA-PJ-A5Z8-01A-11D-A28G-10	TCGA-PJ-A5Z8-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8661bd12-fa20-4263-b1ab-034a4b225560	32a7ff68-4d91-4377-bc04-dd8688d15196	g.chr2:197791195T>A	ENST00000354764.4	-	1	260	c.146A>T	c.(145-147)cAg>cTg	p.Q49L	PGAP1_ENST00000485830.1_Intron|PGAP1_ENST00000409475.1_Splice_Site_p.Q49L|PGAP1_ENST00000409188.1_Intron	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	49					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						GAACCTTACCTGATACTCCGG	0.562																																																0													184	203	197					2																	197791195		2203	4300	6503	SO:0001630	splice_region_variant	80055				CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"GPI inositol-deacylase"	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.147+1A>T	chr2.hg19:g.197791195T>A			Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Missense_Mutation	SNP	ENST00000354764.4	hg19	CCDS2318.1	.	.	.	.	.	.	.	.	.	.	T	14.06	2.422748	0.43020	.	.	ENSG00000197121	ENST00000422382;ENST00000354764;ENST00000409475;ENST00000374738	D	0.83673	-1.75	4.16	4.16	0.48862	.	0.069665	0.64402	D	0.000011	T	0.70745	0.3259	N	0.15975	0.35	0.80722	D	1	B;P	0.48764	0.001;0.915	B;P	0.49361	0.001;0.608	T	0.66284	-0.5962	10	0.11485	T	0.65	-4.6463	6.88	0.24168	0.2059:0.0:0.0:0.7941	.	49;49	Q75T13-3;Q75T13	.;PGAP1_HUMAN	L	49	ENSP00000363870:Q49L	ENSP00000346809:Q49L	Q	-	2	0	PGAP1	197499440	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	2.730000	0.47335	1.752000	0.51891	0.260000	0.18958	CAG		0.562	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256103.5	NM_024989	Missense_Mutation	A	197791195	T	A	197791195	5	1	779	1	0	0	0	0	0	0	1	0	11779	1594	55	5	2730	5	PGAP1	2	197791195	Splice_Site	SNP	T	TCGA-PJ-A5Z8-01A-11D-A28G-10	5995911	197791195	45408178	13	46045											
SGOL2	151246	hgsc.bcm.edu	37	2	201438489	201438489	+	Silent	SNP	T	T	G			TCGA-PJ-A5Z8-01A-11D-A28G-10	TCGA-PJ-A5Z8-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8661bd12-fa20-4263-b1ab-034a4b225560	32a7ff68-4d91-4377-bc04-dd8688d15196	g.chr2:201438489T>G	ENST00000357799.4	+	7	3518	c.3420T>G	c.(3418-3420)tcT>tcG	p.S1140S		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)	1140					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						GATCTTTGTCTGAGATACATT	0.343																																																0													109	101	103					2																	201438489		1844	4087	5931	SO:0001819	synonymous_variant	151246			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.3420T>G	chr2.hg19:g.201438489T>G			Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Silent	SNP	ENST00000357799.4	hg19	CCDS42796.1																																																																																				0.343	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524		G	201438489	T	G	201438489	2	3	779	1	0	0	0	0	0	0	0	1	14223	1567	55	5		5	SGOL2	2	201438489	Silent	SNP	T	TCGA-PJ-A5Z8-01A-11D-A28G-10	3647294	201438489	41760884	14	46046											
COPG	22820	hgsc.bcm.edu	37	3	128993744	128993745	+	Nonsense_Mutation	DNP	GC	GC	TA			TCGA-PJ-A5Z8-01A-11D-A28G-10	TCGA-PJ-A5Z8-10A-01D-A28G-10	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8661bd12-fa20-4263-b1ab-034a4b225560	32a7ff68-4d91-4377-bc04-dd8688d15196	g.chr3:128993744_128993745GC>TA	ENST00000314797.6	+	22	2424_2425	c.2320_2321GC>TA	c.(2320-2322)GCa>TAa	p.A774*		NM_016128.3	NP_057212.1	Q9Y678	COPG1_HUMAN	coatomer protein complex, subunit gamma 1	774	Interaction with ZNF289/ARFGAP2.				COPI coating of Golgi vesicle (GO:0048205)|establishment of Golgi localization (GO:0051683)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|organelle transport along microtubule (GO:0072384)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)	structural molecule activity (GO:0005198)										GAACTTCGAAGCAGCCTGGGAT	0.46																																																0																																										SO:0001587	stop_gained	22820			AB047846	CCDS33851.1	3q21.3	2012-02-23	2012-02-23	2012-02-23	ENSG00000181789	ENSG00000181789			2236	protein-coding gene	gene with protein product	"coat protein gamma-cop"	615525	"coatomer protein complex, subunit gamma"	COPG		11056392	Standard	NM_016128		Approved		uc003els.3	Q9Y678	OTTHUMG00000159451	Exception_encountered	chr3.hg19:g.128993744_128993745delinsTA	ENSP00000325002:p.Ala774*		A8K6M8|B3KMF6|Q54AC4	Missense_Mutation	SNP	ENST00000314797.6	hg19	CCDS33851.1																																																																																				0.46	COPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355456.1	NM_016128		TA	128993745	GC	TA	128993744	4	4	779	1	0	0	0	0	0	1	0	0	3733	971	34	4	2406	4	COPG	3	128993744	Nonsense_Mutation	DNP	GC	TCGA-PJ-A5Z8-01A-11D-A28G-10		128993744	69028686	15	46047											
HPSE	10855	hgsc.bcm.edu	37	4	84240579	84240579	+	Missense_Mutation	SNP	C	C	G			TCGA-PJ-A5Z8-01A-11D-A28G-10	TCGA-PJ-A5Z8-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8661bd12-fa20-4263-b1ab-034a4b225560	32a7ff68-4d91-4377-bc04-dd8688d15196	g.chr4:84240579C>G	ENST00000405413.2	-	4	553	c.417G>C	c.(415-417)aaG>aaC	p.K139N	HPSE_ENST00000513463.1_Missense_Mutation_p.K139N|HPSE_ENST00000311412.5_Missense_Mutation_p.K139N|HPSE_ENST00000512196.1_Missense_Mutation_p.K139N	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN	heparanase	139					carbohydrate metabolic process (GO:0005975)|cell-matrix adhesion (GO:0007160)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan catabolic process (GO:0030200)|positive regulation of blood coagulation (GO:0030194)|positive regulation of hair follicle development (GO:0051798)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation vascular endothelial growth factor production (GO:0010575)|proteoglycan metabolic process (GO:0006029)|regulation of hair follicle development (GO:0051797)|small molecule metabolic process (GO:0044281)|vascular wound healing (GO:0061042)	extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane raft (GO:0045121)|nucleus (GO:0005634)	beta-glucuronidase activity (GO:0004566)|heparanase activity (GO:0030305)|protein dimerization activity (GO:0046983)|syndecan binding (GO:0045545)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Dalteparin(DB06779)|Heparin(DB01109)	CCAACCGTAACTTCTCCTCCA	0.438																																																0													148	137	141					4																	84240579		2203	4300	6503	SO:0001583	missense	10855			AF144325	CCDS3602.1, CCDS54774.1, CCDS56337.1	4q21.3	2008-02-05			ENSG00000173083	ENSG00000173083			5164	protein-coding gene	gene with protein product		604724				10395325, 10395326	Standard	NM_006665		Approved	HPA, HSE1, HPSE1	uc003hoj.4	Q9Y251	OTTHUMG00000130425	ENST00000405413.2:c.417G>C	chr4.hg19:g.84240579C>G	ENSP00000384262:p.Lys139Asn		A9JIG7|C7F7I3|C7F7I4|E9PCA9|E9PGR1|Q53GE5|Q9UL39	Missense_Mutation	SNP	ENST00000405413.2	hg19	CCDS3602.1	.	.	.	.	.	.	.	.	.	.	C	2.151	-0.394512	0.04899	.	.	ENSG00000173083	ENST00000311412;ENST00000405413;ENST00000512196;ENST00000513463	T;T;T;T	0.44482	0.94;0.94;0.92;2.02	5.14	0.358	0.16084	Glycoside hydrolase, superfamily (1);	0.691254	0.14121	N	0.340021	T	0.28863	0.0716	L	0.36672	1.1	0.09310	N	1	B;P;P	0.36465	0.0;0.551;0.554	B;B;B	0.40782	0.001;0.34;0.146	T	0.14531	-1.0469	10	0.27082	T	0.32	-4.5686	2.1168	0.03715	0.1217:0.3938:0.1188:0.3657	.	139;139;139	E9PCA9;E9PGR1;Q9Y251	.;.;HPSE_HUMAN	N	139	ENSP00000308107:K139N;ENSP00000384262:K139N;ENSP00000423265:K139N;ENSP00000421365:K139N	ENSP00000308107:K139N	K	-	3	2	HPSE	84459603	0.000000	0.05858	0.002000	0.10522	0.016000	0.09150	-0.862000	0.04263	-0.150000	0.11195	-0.293000	0.09583	AAG		0.438	HPSE-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252812.2	NM_006665		G	84240579	C	G	84240579	3	3	779	1	0	0	0	0	1	0	0	0	7346	564	20	4	1254	4	HPSE	4	84240579	Missense_Mutation	SNP	C	TCGA-PJ-A5Z8-01A-11D-A28G-10		84240579	106913697	16	46048											
GRID2	2895	hgsc.bcm.edu	37	4	94436380	94436380	+	Missense_Mutation	SNP	C	C	T			TCGA-PJ-A5Z8-01A-11D-A28G-10	TCGA-PJ-A5Z8-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8661bd12-fa20-4263-b1ab-034a4b225560	32a7ff68-4d91-4377-bc04-dd8688d15196	g.chr4:94436380C>T	ENST00000282020.4	+	13	2269	c.2011C>T	c.(2011-2013)Ctt>Ttt	p.L671F	GRID2_ENST00000510992.1_Missense_Mutation_p.L576F	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	671					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)	p.L671I(1)		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)		TCTCCAGGACCTTTCCAAGCA	0.418																																																1	Substitution - Missense(1)	lung(1)											45	44	44					4																	94436380		2203	4300	6503	SO:0001583	missense	2895			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.2011C>T	chr4.hg19:g.94436380C>T	ENSP00000282020:p.Leu671Phe		E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	hg19	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	C	19.43	3.826524	0.71143	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.52754	0.65;0.65	4.96	4.96	0.65561	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.062472	0.64402	D	0.000006	T	0.74038	0.3664	M	0.86651	2.83	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.992;0.997	T	0.79757	-0.1669	10	0.87932	D	0	.	18.5496	0.91058	0.0:1.0:0.0:0.0	.	576;671	E9PH24;O43424	.;GRID2_HUMAN	F	671;576	ENSP00000282020:L671F;ENSP00000421257:L576F	ENSP00000282020:L671F	L	+	1	0	GRID2	94655403	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.534000	0.45676	2.448000	0.82819	0.585000	0.79938	CTT		0.418	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			T	94436380	C	T	94436380	3	4	779	1	0	0	0	0	1	0	0	0	6774	681	24	2	2061	2	GRID2	4	94436380	Missense_Mutation	SNP	C	TCGA-PJ-A5Z8-01A-11D-A28G-10	10195801	94436380	96717896	17	46049											
ADH6	130	hgsc.bcm.edu	37	4	100129912	100129912	+	Missense_Mutation	SNP	T	T	A			TCGA-PJ-A5Z8-01A-11D-A28G-10	TCGA-PJ-A5Z8-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8661bd12-fa20-4263-b1ab-034a4b225560	32a7ff68-4d91-4377-bc04-dd8688d15196	g.chr4:100129912T>A	ENST00000237653.7	-	6	1125	c.741A>T	c.(739-741)ttA>ttT	p.L247F	RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000394899.2_Missense_Mutation_p.L247F|RP11-696N14.1_ENST00000506454.1_RNA|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000504257.1_5'UTR|ADH6_ENST00000407820.2_Missense_Mutation_p.L38F|ADH6_ENST00000394897.1_Missense_Mutation_p.L247F	NM_000672.3	NP_000663	P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	247					ethanol oxidation (GO:0006069)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|ethanol binding (GO:0035276)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)	TGGGTTTCTTTAAGTCCTGAG	0.443																																																0													286	298	294					4																	100129912		2203	4300	6503	SO:0001583	missense	130			AK092768	CCDS3647.1, CCDS43255.1	4q23	2008-02-05			ENSG00000172955	ENSG00000172955	1.1.1.1	"Alcohol dehydrogenases"	255	protein-coding gene	gene with protein product		103735				1881901	Standard	NM_000672		Approved	ADH-5	uc003huo.2	P28332	OTTHUMG00000131024	ENST00000237653.7:c.741A>T	chr4.hg19:g.100129912T>A	ENSP00000237653:p.Leu247Phe		B3KS45|Q58F53	Missense_Mutation	SNP	ENST00000237653.7	hg19	CCDS3647.1	.	.	.	.	.	.	.	.	.	.	T	2.163	-0.391751	0.04932	.	.	ENSG00000172955	ENST00000394897;ENST00000394899;ENST00000407820;ENST00000237653;ENST00000508558	T;T;T;T;T	0.04156	3.69;3.69;3.69;3.69;3.69	4.56	-4.66	0.03329	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.483471	0.25219	N	0.032258	T	0.01523	0.0049	N	0.11651	0.15	0.22001	N	0.999427	B;B;B;B	0.14012	0.0;0.0;0.0;0.009	B;B;B;B	0.09377	0.004;0.002;0.002;0.004	T	0.42015	-0.9476	10	0.09338	T	0.73	-7.7887	1.7843	0.03038	0.3579:0.2092:0.3238:0.1091	.	124;247;247;247	B4DPD8;E9PBI1;P28332;P28332-2	.;.;ADH6_HUMAN;.	F	247;247;38;247;183	ENSP00000378358:L247F;ENSP00000378359:L247F;ENSP00000384997:L38F;ENSP00000237653:L247F;ENSP00000426187:L183F	ENSP00000237653:L247F	L	-	3	2	ADH6	100348935	0.000000	0.05858	0.004000	0.12327	0.597000	0.36814	0.028000	0.13644	-1.027000	0.03325	-0.294000	0.09567	TTA		0.443	ADH6-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253665.1	NM_000672		A	100129912	T	A	100129912	3	1	779	1	0	0	0	0	1	0	0	0	312	1751	61	5	406	5	ADH6	4	100129912	Missense_Mutation	SNP	T	TCGA-PJ-A5Z8-01A-11D-A28G-10	5693532	100129912	91024364	18	46050											
LARP7	51574	hgsc.bcm.edu	37	4	113568519	113568519	+	Missense_Mutation	SNP	C	C	A			TCGA-PJ-A5Z8-01A-11D-A28G-10	TCGA-PJ-A5Z8-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8661bd12-fa20-4263-b1ab-034a4b225560	32a7ff68-4d91-4377-bc04-dd8688d15196	g.chr4:113568519C>A	ENST00000344442.5	+	7	1089	c.811C>A	c.(811-813)Cag>Aag	p.Q271K	MIR302D_ENST00000362275.1_RNA|MIR302B_ENST00000509938.1_RNA|MIR302C_ENST00000362232.1_RNA|MIR367_ENST00000362299.1_RNA|MIR302B_ENST00000505215.1_RNA|MIR302B_ENST00000510655.1_RNA|MIR302A_ENST00000385192.1_RNA|MIR302B_ENST00000362188.1_RNA|LARP7_ENST00000509061.1_Missense_Mutation_p.Q278K|LARP7_ENST00000324052.6_Missense_Mutation_p.Q271K	NM_016648.3	NP_057732.2	Q4G0J3	LARP7_HUMAN	La ribonucleoprotein domain family, member 7	271	Lys-rich.				RNA processing (GO:0006396)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	17		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		ACCCCAAAAGCAGTGCTCAAA	0.448																																																0													104	102	102					4																	113568519		1871	4114	5985	SO:0001583	missense	51574			AF068284	CCDS3701.2, CCDS58924.1	4q25	2013-02-12			ENSG00000174720	ENSG00000174720		"La ribonucleoprotein domain containing", "RNA binding motif (RRM) containing"	24912	protein-coding gene	gene with protein product	"P-TEFb-interaction protein for 7SK stability"	612026				18191186, 18249148, 18281698, 22865833, 22488152	Standard	NM_016648		Approved	HDCMA18P, PIP7S, DKFZP564K112	uc003ibb.4	Q4G0J3	OTTHUMG00000132909	ENST00000344442.5:c.811C>A	chr4.hg19:g.113568519C>A	ENSP00000344950:p.Gln271Lys		B2ZHN6|Q3B7A9|Q9P1S7|Q9Y3Z8	Missense_Mutation	SNP	ENST00000344442.5	hg19	CCDS3701.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.204|0.204	-1.041899|-1.041899	0.01997|0.01997	.|.	.|.	ENSG00000174720|ENSG00000174720	ENST00000344442;ENST00000509061;ENST00000505034;ENST00000324052|ENST00000511529	T;T;T;T|.	0.17528|.	2.27;2.27;2.27;2.27|.	5.86|5.86	5.01|5.01	0.66863|0.66863	.|.	0.366809|.	0.30126|.	N|.	0.010347|.	T|T	0.56485|0.56485	0.1988|0.1988	L|L	0.56769|0.56769	1.78|1.78	0.32446|0.32446	N|N	0.546025|0.546025	B;B|.	0.18013|.	0.025;0.025|.	B;B|.	0.18561|.	0.022;0.022|.	T|T	0.65162|0.65162	-0.6235|-0.6235	10|5	0.06236|.	T|.	0.91|.	-6.7457|-6.7457	10.0804|10.0804	0.42386|0.42386	0.0:0.7892:0.1388:0.072|0.0:0.7892:0.1388:0.072	.|.	271;271|.	D6RFF0;Q4G0J3|.	.;LARP7_HUMAN|.	K|R	271;278;271;271|51	ENSP00000344950:Q271K;ENSP00000422626:Q278K;ENSP00000421541:Q271K;ENSP00000314311:Q271K|.	ENSP00000314311:Q271K|.	Q|S	+|+	1|3	0|2	LARP7|LARP7	113787968|113787968	0.865000|0.865000	0.29922|0.29922	0.907000|0.907000	0.35723|0.35723	0.117000|0.117000	0.20001|0.20001	1.026000|1.026000	0.30103|0.30103	1.453000|1.453000	0.47775|0.47775	0.563000|0.563000	0.77884|0.77884	CAG|AGC		0.448	LARP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256417.2	NM_016648		A	113568519	C	A	113568519	3	1	779	1	0	0	0	0	1	0	0	0	8635	711	25	4	833	4	LARP7	4	113568519	Missense_Mutation	SNP	C	TCGA-PJ-A5Z8-01A-11D-A28G-10	13438607	113568519	77585757	19	46051											
CDH12	1010	hgsc.bcm.edu	37	5	21751876	21751876	+	Frame_Shift_Del	DEL	T	T	-			TCGA-PJ-A5Z8-01A-11D-A28G-10	TCGA-PJ-A5Z8-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8661bd12-fa20-4263-b1ab-034a4b225560	32a7ff68-4d91-4377-bc04-dd8688d15196	g.chr5:21751876delT	ENST00000382254.1	-	15	3441	c.2355delA	c.(2353-2355)gaafs	p.E786fs	CDH12_ENST00000504376.2_Frame_Shift_Del_p.E786fs|CDH12_ENST00000522262.1_Frame_Shift_Del_p.E746fs|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	786					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						TATAACTCTCTTCTTCGCCAA	0.428										HNSCC(59;0.17)																																						0													81	83	82					5																	21751876		2203	4300	6503	SO:0001589	frameshift_variant	1010			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.2355delA	chr5.hg19:g.21751876delT	ENSP00000371689:p.Glu786fs		B2RBT1|B7Z2U6|Q86UD2	Frame_Shift_Del	DEL	ENST00000382254.1	hg19	CCDS3890.1																																																																																				0.428	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		-	21751876	T	-	21751876	7	5	779	1	0	1	0	1	0	0	0	0	3100	1606	56	0	33	0	CDH12	5	21751876	Frame_Shift_Del	DEL	T	TCGA-PJ-A5Z8-01A-11D-A28G-10		21751876	159163384	20	46052											
IQGAP2	10788	hgsc.bcm.edu	37	5	75902074	75902074	+	Missense_Mutation	SNP	G	G	A			TCGA-PJ-A5Z8-01A-11D-A28G-10	TCGA-PJ-A5Z8-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8661bd12-fa20-4263-b1ab-034a4b225560	32a7ff68-4d91-4377-bc04-dd8688d15196	g.chr5:75902074G>A	ENST00000274364.6	+	12	1600	c.1303G>A	c.(1303-1305)Gaa>Aaa	p.E435K	IQGAP2_ENST00000379730.3_5'UTR|CTD-2236F14.1_ENST00000511327.1_RNA|IQGAP2_ENST00000502745.1_5'Flank|IQGAP2_ENST00000396234.3_5'Flank	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	435					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)		AAGCTGGAATGAAATTCAGAA	0.343																																																0													100	99	100					5																	75902074		2203	4300	6503	SO:0001583	missense	10788			U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.1303G>A	chr5.hg19:g.75902074G>A	ENSP00000274364:p.Glu435Lys		A8K4V1|B7Z8A4|J3KR91	Missense_Mutation	SNP	ENST00000274364.6	hg19	CCDS34188.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.060330	0.76074	.	.	ENSG00000145703	ENST00000274364;ENST00000514350;ENST00000505766	T;T;T	0.06849	3.25;3.25;3.25	5.63	4.76	0.60689	.	0.158913	0.56097	N	0.000036	T	0.11879	0.0289	M	0.68952	2.095	0.80722	D	1	P	0.39404	0.672	B	0.35607	0.206	T	0.02526	-1.1146	10	0.49607	T	0.09	-26.3168	14.1512	0.65387	0.0728:0.0:0.9272:0.0	.	435	Q13576	IQGA2_HUMAN	K	435;408;385	ENSP00000274364:E435K;ENSP00000423672:E408K;ENSP00000421097:E385K	ENSP00000274364:E435K	E	+	1	0	IQGAP2	75937830	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.250000	0.89835	1.370000	0.46153	0.650000	0.86243	GAA		0.343	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633		A	75902074	G	A	75902074	3	1	779	1	0	0	0	0	1	0	0	0	7817	1291	45	2	1349	2	IQGAP2	5	75902074	Missense_Mutation	SNP	G	TCGA-PJ-A5Z8-01A-11D-A28G-10	54150198	75902074	105013186	21	46053											
DDX41	51428	hgsc.bcm.edu	37	5	176940458	176940458	+	Missense_Mutation	SNP	C	C	G			TCGA-PJ-A5Z8-01A-11D-A28G-10	TCGA-PJ-A5Z8-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8661bd12-fa20-4263-b1ab-034a4b225560	32a7ff68-4d91-4377-bc04-dd8688d15196	g.chr5:176940458C>G	ENST00000507955.1	-	11	1649	c.1126G>C	c.(1126-1128)Gcc>Ccc	p.A376P	DDX41_ENST00000506965.1_5'Flank	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	376	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)			GGCATGGTGGCACTGAAGAGC	0.612																																																0													129	139	136					5																	176940458		2203	4300	6503	SO:0001583	missense	51428			AF195417	CCDS4427.1	5q35.3	2008-02-05			ENSG00000183258	ENSG00000183258		"DEAD-boxes"	18674	protein-coding gene	gene with protein product		608170				10607561	Standard	NM_016222		Approved	ABS, MGC8828	uc003mho.3	Q9UJV9	OTTHUMG00000130858	ENST00000507955.1:c.1126G>C	chr5.hg19:g.176940458C>G	ENSP00000422753:p.Ala376Pro		B2RDC8|Q96BK6|Q96K05|Q9NT96|Q9NW04	Missense_Mutation	SNP	ENST00000507955.1	hg19	CCDS4427.1	.	.	.	.	.	.	.	.	.	.	C	34	5.359401	0.95854	.	.	ENSG00000183258	ENST00000330503;ENST00000507955	T;T	0.59772	0.24;0.24	5.25	5.25	0.73442	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.055575	0.64402	D	0.000001	D	0.84705	0.5531	H	0.96777	3.88	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.79108	0.988;0.992	D	0.89650	0.3869	10	0.87932	D	0	-29.9388	19.0273	0.92937	0.0:1.0:0.0:0.0	.	250;376	B3KRK2;Q9UJV9	.;DDX41_HUMAN	P	394;376	ENSP00000330349:A394P;ENSP00000422753:A376P	ENSP00000330349:A394P	A	-	1	0	DDX41	176873064	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.595000	0.82710	2.721000	0.93114	0.655000	0.94253	GCC		0.612	DDX41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253432.2	NM_016222		G	176940458	C	G	176940458	3	3	779	1	0	0	0	0	1	0	0	0	4363	710	25	4	770	4	DDX41	5	176940458	Missense_Mutation	SNP	C	TCGA-PJ-A5Z8-01A-11D-A28G-10	101038384	176940458	3974802	22	46054											
KDM1B	221656	hgsc.bcm.edu	37	6	18218101	18218101	+	Frame_Shift_Del	DEL	C	C	-			TCGA-PJ-A5Z8-01A-11D-A28G-10	TCGA-PJ-A5Z8-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8661bd12-fa20-4263-b1ab-034a4b225560	32a7ff68-4d91-4377-bc04-dd8688d15196	g.chr6:18218101delC	ENST00000297792.5	+	17	1851	c.1674delC	c.(1672-1674)gtcfs	p.V558fs	KDM1B_ENST00000388870.2_Frame_Shift_Del_p.V791fs|KDM1B_ENST00000397244.1_Frame_Shift_Del_p.V559fs|KDM1B_ENST00000546309.2_Frame_Shift_Del_p.V81fs			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	790					DNA methylation involved in gamete generation (GO:0043046)|histone H3-K4 demethylation (GO:0034720)|multicellular organismal development (GO:0007275)|regulation of DNA methylation (GO:0044030)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-monomethyl-K4 specific) (GO:0034649)|oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						AAGGAACCGTCTTTTTCGCTG	0.418																																																0													216	181	193					6																	18218101		2203	4300	6503	SO:0001589	frameshift_variant	221656			AK125318	CCDS34343.1	6p22.3	2011-07-01	2009-09-29	2009-09-29	ENSG00000165097	ENSG00000165097		"Chromatin-modifying enzymes / K-demethylases"	21577	protein-coding gene	gene with protein product		613081	"amine oxidase, flavin containing 1", "chromosome 6 open reading frame 193", "amine oxidase (flavin containing) domain 1"	C6orf193, AOF1		19407342, 19727073	Standard	NM_153042		Approved	FLJ34109, FLJ33898, dJ298J15.2, bA204B7.3, FLJ43328, LSD2	uc003ncn.1	Q8NB78	OTTHUMG00000014316	ENST00000297792.5:c.1674delC	chr6.hg19:g.18218101delC	ENSP00000297792:p.Val558fs		A2A2C5|A2A2C6|Q5TGV3|Q6AI15|Q6ZUU4|Q8N258|Q96EL7	Frame_Shift_Del	DEL	ENST00000297792.5	hg19	CCDS34343.1																																																																																				0.418	KDM1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277080.1	NM_153042		-	18218101	C	-	18218101	7	5	779	1	0	1	0	1	0	0	0	0	8125	900	32	0	1732	0	KDM1B	6	18218101	Frame_Shift_Del	DEL	C	TCGA-PJ-A5Z8-01A-11D-A28G-10		18218101	152896966	23	46055											
FHL5	9457	hgsc.bcm.edu	37	6	97053903	97053904	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-PJ-A5Z8-01A-11D-A28G-10	TCGA-PJ-A5Z8-10A-01D-A28G-10	TG	TG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8661bd12-fa20-4263-b1ab-034a4b225560	32a7ff68-4d91-4377-bc04-dd8688d15196	g.chr6:97053903_97053904delTG	ENST00000326771.2	+	5	840_841	c.460_461delTG	c.(460-462)tgtfs	p.C154fs	FHL5_ENST00000541107.1_Frame_Shift_Del_p.C154fs	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	154	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)		TTGTGTGCCATGTTTTGAGAAG	0.396																																																0																																										SO:0001589	frameshift_variant	9457			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.460_461delTG	chr6.hg19:g.97053903_97053904delTG	ENSP00000326022:p.Cys154fs		B2RBD1|E1P526|Q5TD98|Q8WW21|Q9NQU2	Frame_Shift_Del	DEL	ENST00000326771.2	hg19	CCDS5035.1																																																																																				0.396	FHL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041559.1	NM_020482		-	97053904	TG	-	97053903	7	5	779	1	0	1	0	1	0	0	0	0	5883	1464	51	0	470	0	FHL5	6	97053903	Frame_Shift_Del	DEL	TG	TCGA-PJ-A5Z8-01A-11D-A28G-10	78835802	97053903	74061164	24	46056											
HECW1	23072	hgsc.bcm.edu	37	7	43484075	43484075	+	Missense_Mutation	SNP	C	C	A			TCGA-PJ-A5Z8-01A-11D-A28G-10	TCGA-PJ-A5Z8-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8661bd12-fa20-4263-b1ab-034a4b225560	32a7ff68-4d91-4377-bc04-dd8688d15196	g.chr7:43484075C>A	ENST00000395891.2	+	11	1909	c.1304C>A	c.(1303-1305)cCt>cAt	p.P435H	HECW1_ENST00000453890.1_Missense_Mutation_p.P435H	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	435					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						TCTGTGGGACCTGAAGGGGCT	0.627																																																0													22	25	24					7																	43484075		2079	4213	6292	SO:0001583	missense	23072			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.1304C>A	chr7.hg19:g.43484075C>A	ENSP00000379228:p.Pro435His		A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	hg19	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	C	12.99	2.102929	0.37145	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.33654	1.45;1.4	4.77	3.89	0.44902	.	15.800300	0.00906	N	0.002403	T	0.34221	0.0890	L	0.40543	1.245	0.09310	N	1	P;P	0.51791	0.612;0.948	B;B	0.39185	0.219;0.293	T	0.38564	-0.9655	10	0.52906	T	0.07	.	10.3123	0.43716	0.0:0.844:0.0:0.156	.	435;435	B4DH42;Q76N89	.;HECW1_HUMAN	H	435	ENSP00000379228:P435H;ENSP00000407774:P435H	ENSP00000265522:P435H	P	+	2	0	HECW1	43450600	0.000000	0.05858	0.008000	0.14137	0.181000	0.23173	0.250000	0.18235	1.311000	0.45024	0.591000	0.81541	CCT		0.627	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		A	43484075	C	A	43484075	3	1	779	1	0	0	0	0	1	0	0	0	7044	681	24	4	1338	4	HECW1	7	43484075	Missense_Mutation	SNP	C	TCGA-PJ-A5Z8-01A-11D-A28G-10		43484075	115654588	25	46057											
ABCA13	154664	hgsc.bcm.edu	37	7	48563956	48563956	+	Missense_Mutation	SNP	A	A	C			TCGA-PJ-A5Z8-01A-11D-A28G-10	TCGA-PJ-A5Z8-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8661bd12-fa20-4263-b1ab-034a4b225560	32a7ff68-4d91-4377-bc04-dd8688d15196	g.chr7:48563956A>C	ENST00000435803.1	+	54	14188	c.14164A>C	c.(14164-14166)Aac>Cac	p.N4722H	ABCA13_ENST00000544596.1_Missense_Mutation_p.N452H	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4722	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(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						TGTGTTATACAACCTTAGTAA	0.363																																																0													129	128	128					7																	48563956		1842	4094	5936	SO:0001583	missense	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.14164A>C	chr7.hg19:g.48563956A>C	ENSP00000411096:p.Asn4722His		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	hg19	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	A	7.655	0.683805	0.14907	.	.	ENSG00000179869	ENST00000435803;ENST00000411975;ENST00000544596	T;T;T	0.47869	0.83;0.83;0.83	5.59	3.08	0.35506	ABC transporter-like (1);	0.227351	0.30850	N	0.008743	T	0.30448	0.0765	L	0.31526	0.94	0.22127	N	0.999341	B;B;B	0.28760	0.007;0.013;0.221	B;B;B	0.23716	0.017;0.009;0.048	T	0.16070	-1.0415	10	0.45353	T	0.12	.	6.4339	0.21813	0.7623:0.1574:0.0803:0.0	.	452;2424;4722	F5H7B7;Q86UQ4-3;Q86UQ4	.;.;ABCAD_HUMAN	H	4722;495;452	ENSP00000411096:N4722H;ENSP00000391042:N495H;ENSP00000442634:N452H	ENSP00000391042:N495H	N	+	1	0	ABCA13	48534502	0.928000	0.31464	0.072000	0.20136	0.450000	0.32258	2.185000	0.42584	1.050000	0.40346	0.533000	0.62120	AAC		0.363	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		C	48563956	A	C	48563956	3	2	779	1	0	0	0	0	1	0	0	0	31	130	5	5	14207	5	ABCA13	7	48563956	Missense_Mutation	SNP	A	TCGA-PJ-A5Z8-01A-11D-A28G-10	5079881	48563956	110574707	26	46058											
LAMB1	3912	hgsc.bcm.edu	37	7	107592551	107592555	+	Frame_Shift_Del	DEL	TCACA	TCACA	-	rs376884310		TCGA-PJ-A5Z8-01A-11D-A28G-10	TCGA-PJ-A5Z8-10A-01D-A28G-10	TCACA	TCACA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8661bd12-fa20-4263-b1ab-034a4b225560	32a7ff68-4d91-4377-bc04-dd8688d15196	g.chr7:107592551_107592555delTCACA	ENST00000222399.6	-	23	3423_3427	c.3193_3197delTGTGA	c.(3193-3198)tgtgacfs	p.CD1065fs	LAMB1_ENST00000393561.1_Frame_Shift_Del_p.CD1089fs	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	1065	Laminin EGF-like 11. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|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-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						CGCACAGCGGTCACAGTTCTGCCCG	0.571																																																0																																										SO:0001589	frameshift_variant	3912			M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"Laminins"	6486	protein-coding gene	gene with protein product		150240	"cutis laxa with marfanoid phenotype"	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.3193_3197delTGTGA	chr7.hg19:g.107592551_107592555delTCACA	ENSP00000222399:p.Cys1065fs		Q14D91	Frame_Shift_Del	DEL	ENST00000222399.6	hg19	CCDS5750.1																																																																																				0.571	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		-	107592555	TCACA	-	107592551	7	5	779	1	0	1	0	1	0	0	0	0	8612	1667	58	0	2211	0	LAMB1	7	107592551	Frame_Shift_Del	DEL	TCACA	TCGA-PJ-A5Z8-01A-11D-A28G-10	59028595	107592551	51546112	27	46059	495	2									
LAMB1	3912	hgsc.bcm.edu	37	7	107592557	107592562	+	In_Frame_Del	DEL	TTCTGC	TTCTGC	-			TCGA-PJ-A5Z8-01A-11D-A28G-10	TCGA-PJ-A5Z8-10A-01D-A28G-10	TTCTGC	TTCTGC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8661bd12-fa20-4263-b1ab-034a4b225560	32a7ff68-4d91-4377-bc04-dd8688d15196	g.chr7:107592557_107592562delTTCTGC	ENST00000222399.6	-	23	3416_3421	c.3186_3191delGCAGAA	c.(3184-3192)gggcagaac>ggc	p.QN1063del	LAMB1_ENST00000393561.1_In_Frame_Del_p.QN1087del	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	1063	Laminin EGF-like 11. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|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-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						GCGGTCACAGTTCTGCCCGATCACAT	0.558																																																0																																										SO:0001651	inframe_deletion	3912			M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"Laminins"	6486	protein-coding gene	gene with protein product		150240	"cutis laxa with marfanoid phenotype"	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.3186_3191delGCAGAA	chr7.hg19:g.107592557_107592562delTTCTGC	ENSP00000222399:p.Gln1063_Asn1064del		Q14D91	In_Frame_Del	DEL	ENST00000222399.6	hg19	CCDS5750.1																																																																																				0.558	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		-	107592562	TTCTGC	-	107592557	7	5	779	1	0	1	0	1	0	0	0	0	8612	1725	60	0	2217	0	LAMB1	7	107592557	In_Frame_Del	DEL	TTCTGC	TCGA-PJ-A5Z8-01A-11D-A28G-10	6	107592557	51546106	28	46060	495	2									
SSPO	23145	hgsc.bcm.edu	37	7	149518182	149518182	+	RNA	SNP	C	C	T	rs199773714	byFrequency	TCGA-PJ-A5Z8-01A-11D-A28G-10	TCGA-PJ-A5Z8-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8661bd12-fa20-4263-b1ab-034a4b225560	32a7ff68-4d91-4377-bc04-dd8688d15196	g.chr7:149518182C>T	ENST00000378016.2	+	0	12525							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)			GCCACTCATGCGGGCCCAGAG	0.692													C|||	2	0.000399361	0.0	0.0	5008	,	,		17614	0.002		0.0	False		,,,				2504	0.0															0																																												23145			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		chr7.hg19:g.149518182C>T			Q76B61	Silent	SNP	ENST00000378016.2	hg19																																																																																					0.692	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				T	149518182	C	T	149518182	1	4	779	0	1	0	0	0	0	0	0	0	15194	776	27	1		1	SSPO	7	149518182	RNA	SNP	C	TCGA-PJ-A5Z8-01A-11D-A28G-10	41925625	149518182	9620481	29	46061											
MLL3	58508	hgsc.bcm.edu	37	7	151919708	151919708	+	Frame_Shift_Del	DEL	T	T	-			TCGA-PJ-A5Z8-01A-11D-A28G-10	TCGA-PJ-A5Z8-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8661bd12-fa20-4263-b1ab-034a4b225560	32a7ff68-4d91-4377-bc04-dd8688d15196	g.chr7:151919708delT	ENST00000262189.6	-	21	3601	c.3383delA	c.(3382-3384)gacfs	p.D1128fs	KMT2C_ENST00000355193.2_Frame_Shift_Del_p.D1128fs	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1128					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)										AAAACCAATGTCTGCTACATT	0.358																																																0													62	50	54					7																	151919708		2203	4296	6499	SO:0001589	frameshift_variant	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.3383delA	chr7.hg19:g.151919708delT	ENSP00000262189:p.Asp1128fs		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Del	DEL	ENST00000262189.6	hg19	CCDS5931.1																																																																																				0.358	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			-	151919708	T	-	151919708	7	5	779	1	0	1	0	1	0	0	0	0	9624	1667	58	0	11508	0	MLL3	7	151919708	Frame_Shift_Del	DEL	T	TCGA-PJ-A5Z8-01A-11D-A28G-10	2401526	151919708	7218955	30	46062											
OSGIN2	734	hgsc.bcm.edu	37	8	90936735	90936736	+	Frame_Shift_Ins	INS	-	-	T			TCGA-PJ-A5Z8-01A-11D-A28G-10	TCGA-PJ-A5Z8-10A-01D-A28G-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8661bd12-fa20-4263-b1ab-034a4b225560	32a7ff68-4d91-4377-bc04-dd8688d15196	g.chr8:90936735_90936736insT	ENST00000297438.2	+	6	848_849	c.493_494insT	c.(493-495)ctafs	p.L165fs	OSGIN2_ENST00000451899.2_Frame_Shift_Ins_p.L209fs	NM_004337.2	NP_004328.1	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family member 2	165					meiotic nuclear division (GO:0007126)					breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TTTTAGGAGCCTAAAAGGGGAT	0.322																																																0																																										SO:0001589	frameshift_variant	734			AF061326	CCDS6248.1, CCDS47888.1	8q21	2006-10-05	2006-10-05	2006-10-05	ENSG00000164823	ENSG00000164823			1355	protein-coding gene	gene with protein product		604598	"chromosome 8 open reading frame 1"	C8orf1		9933573	Standard	NM_004337		Approved	hT41	uc003yeh.3	Q9Y236	OTTHUMG00000163811	ENST00000297438.2:c.494dupT	chr8.hg19:g.90936736_90936736dupT	ENSP00000297438:p.Leu165fs			Frame_Shift_Ins	INS	ENST00000297438.2	hg19	CCDS6248.1																																																																																				0.322	OSGIN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375691.1	NM_004337		T	90936736	-	T	90936735	7	5	779	1	0	1	1	0	0	0	0	0	11292	680	24	0	647	0	OSGIN2	8	90936735	Frame_Shift_Ins	INS	-	TCGA-PJ-A5Z8-01A-11D-A28G-10		90936735	55427287	31	46063											
EFR3A	23167	hgsc.bcm.edu	37	8	132996502	132996502	+	Missense_Mutation	SNP	T	T	G			TCGA-PJ-A5Z8-01A-11D-A28G-10	TCGA-PJ-A5Z8-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8661bd12-fa20-4263-b1ab-034a4b225560	32a7ff68-4d91-4377-bc04-dd8688d15196	g.chr8:132996502T>G	ENST00000254624.5	+	15	1917	c.1692T>G	c.(1690-1692)aaT>aaG	p.N564K	EFR3A_ENST00000519656.1_Missense_Mutation_p.N528K|EFR3A_ENST00000334503.4_Missense_Mutation_p.N564K	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	564						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)			AACTGGCTAATGAAGAAGTAG	0.348																																																0													132	132	132					8																	132996502		2203	4300	6503	SO:0001583	missense	23167			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.1692T>G	chr8.hg19:g.132996502T>G	ENSP00000254624:p.Asn564Lys		A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	Missense_Mutation	SNP	ENST00000254624.5	hg19	CCDS34942.2	.	.	.	.	.	.	.	.	.	.	T	19.05	3.752706	0.69533	.	.	ENSG00000132294	ENST00000254624;ENST00000377917;ENST00000334503;ENST00000519656	T;T;T	0.30182	1.54;1.54;1.54	6.02	3.6	0.41247	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.42698	0.1214	M	0.70275	2.135	0.80722	D	1	P	0.45902	0.868	P	0.51415	0.669	T	0.23084	-1.0198	10	0.51188	T	0.08	-34.8449	10.0781	0.42373	0.0:0.1369:0.0:0.8631	.	564	Q14156	EFR3A_HUMAN	K	564;564;564;528	ENSP00000254624:N564K;ENSP00000334769:N564K;ENSP00000428086:N528K	ENSP00000254624:N564K	N	+	3	2	EFR3A	133065684	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.821000	0.27338	0.491000	0.27793	0.528000	0.53228	AAT		0.348	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318886.1	NM_015137		G	132996502	T	G	132996502	3	3	779	1	0	0	0	0	1	0	0	0	4960	1461	51	5	1750	5	EFR3A	8	132996502	Missense_Mutation	SNP	T	TCGA-PJ-A5Z8-01A-11D-A28G-10	42059767	132996502	13367520	32	46064											
OC90	729330	hgsc.bcm.edu	37	8	133041425	133041426	+	Splice_Site	DNP	AC	AC	TT			TCGA-PJ-A5Z8-01A-11D-A28G-10	TCGA-PJ-A5Z8-10A-01D-A28G-10	A|C	A|C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8661bd12-fa20-4263-b1ab-034a4b225560	32a7ff68-4d91-4377-bc04-dd8688d15196	g.chr8:133041425_133041426AC>TT	ENST00000443356.2	-	14	1166_1167	c.1080_1081GT>AA	c.(1078-1083)agGTgc>agAAgc	p.C361S	OC90_ENST00000603859.1_Splice_Site_p.C345S|OC90_ENST00000254627.3_Splice_Site_p.C345S|OC90_ENST00000262283.5_Splice_Site_p.C557S			Q02509	OC90_HUMAN	otoconin 90	361	Phospholipase A2-like 2.				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)			GACAAGCAGCACCTAAGACCAA	0.554																																																0																																										SO:0001630	splice_region_variant	729330			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.1080_1081delinsTT	chr8.hg19:g.133041425_133041426delinsTT			B4DNG8	Missense_Mutation|Silent	SNP	ENST00000443356.2	hg19																																																																																					0.554	OC90-201	KNOWN	basic	protein_coding	protein_coding		NM_001080399	Missense_Mutation	TT	133041426	AC	TT	133041425	5	4	779	1	0	0	0	0	0	0	1	0	10816	173	6	5	408	5	OC90	8	133041425	Splice_Site	DNP	AC	TCGA-PJ-A5Z8-01A-11D-A28G-10	44923	133041425	13322597	33	46065											
ABCA2	20	hgsc.bcm.edu	37	9	139907277	139907277	+	Silent	SNP	C	C	G			TCGA-PJ-A5Z8-01A-11D-A28G-10	TCGA-PJ-A5Z8-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8661bd12-fa20-4263-b1ab-034a4b225560	32a7ff68-4d91-4377-bc04-dd8688d15196	g.chr9:139907277C>G	ENST00000371605.3	-	30	5112	c.4965G>C	c.(4963-4965)gtG>gtC	p.V1655V	ABCA2_ENST00000265662.5_Silent_p.V1656V|ABCA2_ENST00000341511.6_Silent_p.V1656V			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1655					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)		GGTGCCCGCCCACACTGCTGG	0.677																																																0													10	14	13					9																	139907277		1886	3995	5881	SO:0001819	synonymous_variant	20			U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"ATP binding cassette transporters / subfamily A"	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.4965G>C	chr9.hg19:g.139907277C>G			A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Silent	SNP	ENST00000371605.3	hg19		.	.	.	.	.	.	.	.	.	.	C	9.881	1.201473	0.22121	.	.	ENSG00000107331	ENST00000477420	.	.	.	4.15	3.22	0.36961	.	.	.	.	.	T	0.48150	0.1484	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43798	-0.9369	4	.	.	.	.	4.4915	0.11815	0.1537:0.609:0.1497:0.0876	.	.	.	.	R	68	.	.	G	-	1	0	ABCA2	139027098	0.859000	0.29813	1.000000	0.80357	0.989000	0.77384	-0.084000	0.11268	2.142000	0.66516	0.491000	0.48974	GGG		0.677	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		G	139907277	C	G	139907277	2	3	779	1	0	0	0	0	0	0	0	1	32	581	21	4		4	ABCA2	9	139907277	Silent	SNP	C	TCGA-PJ-A5Z8-01A-11D-A28G-10		139907277	1306154	34	46066											
ANK3	288	hgsc.bcm.edu	37	10	61833342	61833342	+	Missense_Mutation	SNP	C	C	A			TCGA-PJ-A5Z8-01A-11D-A28G-10	TCGA-PJ-A5Z8-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8661bd12-fa20-4263-b1ab-034a4b225560	32a7ff68-4d91-4377-bc04-dd8688d15196	g.chr10:61833342C>A	ENST00000280772.2	-	37	7488	c.7297G>T	c.(7297-7299)Gac>Tac	p.D2433Y	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)	2433					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						TTATAAGAGTCATCAGATATG	0.418																																																0													79	80	80					10																	61833342		2203	4300	6503	SO:0001583	missense	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.7297G>T	chr10.hg19:g.61833342C>A	ENSP00000280772:p.Asp2433Tyr		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	hg19	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.377882	0.61735	.	.	ENSG00000151150	ENST00000280772	T	0.70986	-0.53	5.8	5.8	0.92144	.	0.000000	0.44688	D	0.000436	T	0.81894	0.4919	L	0.53249	1.67	0.80722	D	1	D	0.89917	1.0	D	0.67231	0.95	T	0.82252	-0.0549	10	0.72032	D	0.01	.	20.0591	0.97667	0.0:1.0:0.0:0.0	.	2433	Q12955	ANK3_HUMAN	Y	2433	ENSP00000280772:D2433Y	ENSP00000280772:D2433Y	D	-	1	0	ANK3	61503348	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.810000	0.86072	2.747000	0.94245	0.462000	0.41574	GAC		0.418	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		A	61833342	C	A	61833342	3	1	779	1	0	0	0	0	1	0	0	0	622	826	29	4	6177	4	ANK3	10	61833342	Missense_Mutation	SNP	C	TCGA-PJ-A5Z8-01A-11D-A28G-10		61833342	73701405	35	46067											
ENTPD7	57089	hgsc.bcm.edu	37	10	101421214	101421214	+	Missense_Mutation	SNP	C	C	A			TCGA-PJ-A5Z8-01A-11D-A28G-10	TCGA-PJ-A5Z8-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8661bd12-fa20-4263-b1ab-034a4b225560	32a7ff68-4d91-4377-bc04-dd8688d15196	g.chr10:101421214C>A	ENST00000370489.4	+	3	198	c.20C>A	c.(19-21)tCc>tAc	p.S7Y		NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	7						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)		ATCAGTTTTTCCTACCTCTGC	0.428																																																0													133	125	128					10																	101421214		2203	4300	6503	SO:0001583	missense	57089			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.20C>A	chr10.hg19:g.101421214C>A	ENSP00000359520:p.Ser7Tyr		B2RB83|B3KP21|D3DR64	Missense_Mutation	SNP	ENST00000370489.4	hg19	CCDS7480.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.094777	0.76870	.	.	ENSG00000198018	ENST00000370489	T	0.17691	2.26	5.67	5.67	0.87782	.	0.127291	0.53938	D	0.000047	T	0.21631	0.0521	L	0.32530	0.975	0.48040	D	0.999575	P	0.49696	0.927	P	0.47251	0.542	T	0.00348	-1.1799	10	0.54805	T	0.06	-18.4355	18.5275	0.90978	0.0:1.0:0.0:0.0	.	7	Q9NQZ7	ENTP7_HUMAN	Y	7	ENSP00000359520:S7Y	ENSP00000359520:S7Y	S	+	2	0	ENTPD7	101411204	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.312000	0.59154	2.664000	0.90586	0.555000	0.69702	TCC		0.428	ENTPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049809.2	NM_020354		A	101421214	C	A	101421214	3	1	779	1	0	0	0	0	1	0	0	0	5146	855	30	4	26	4	ENTPD7	10	101421214	Missense_Mutation	SNP	C	TCGA-PJ-A5Z8-01A-11D-A28G-10	39587872	101421214	34113533	36	46068											
DNMBP	23268	hgsc.bcm.edu	37	10	101715503	101715503	+	Missense_Mutation	SNP	G	G	T			TCGA-PJ-A5Z8-01A-11D-A28G-10	TCGA-PJ-A5Z8-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8661bd12-fa20-4263-b1ab-034a4b225560	32a7ff68-4d91-4377-bc04-dd8688d15196	g.chr10:101715503G>T	ENST00000324109.4	-	4	1819	c.1728C>A	c.(1726-1728)caC>caA	p.H576Q	DNMBP-AS1_ENST00000434409.1_RNA|DNMBP_ENST00000342239.3_Missense_Mutation_p.H576Q	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	576					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)		TGATTGAAAAGTGGCGTAAAA	0.507																																																0													53	57	56					10																	101715503		2203	4300	6503	SO:0001583	missense	23268			AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"Rho guanine nucleotide exchange factors"	30373	protein-coding gene	gene with protein product	"scaffold protein TUBA"	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.1728C>A	chr10.hg19:g.101715503G>T	ENSP00000315659:p.His576Gln		Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	ENST00000324109.4	hg19	CCDS7485.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.953459	0.53293	.	.	ENSG00000107554	ENST00000342239;ENST00000324109	T;T	0.16897	2.35;2.31	6.04	1.56	0.23342	.	0.248667	0.28647	N	0.014613	T	0.14960	0.0361	M	0.71581	2.175	0.80722	D	1	P	0.43477	0.808	B	0.39419	0.299	T	0.16364	-1.0405	10	0.13108	T	0.6	-7.645	6.0919	0.19999	0.3777:0.1336:0.4887:0.0	.	576	Q6XZF7	DNMBP_HUMAN	Q	576	ENSP00000344914:H576Q;ENSP00000315659:H576Q	ENSP00000315659:H576Q	H	-	3	2	DNMBP	101705493	0.999000	0.42202	1.000000	0.80357	0.974000	0.67602	0.487000	0.22356	0.365000	0.24400	0.561000	0.74099	CAC		0.507	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221		T	101715503	G	T	101715503	3	4	779	1	0	0	0	0	1	0	0	0	4676	1020	36	4	3061	4	DNMBP	10	101715503	Missense_Mutation	SNP	G	TCGA-PJ-A5Z8-01A-11D-A28G-10	294289	101715503	33819244	37	46069											
CYP17A1	1586	hgsc.bcm.edu	37	10	104590667	104590667	+	Missense_Mutation	SNP	C	C	T			TCGA-PJ-A5Z8-01A-11D-A28G-10	TCGA-PJ-A5Z8-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8661bd12-fa20-4263-b1ab-034a4b225560	32a7ff68-4d91-4377-bc04-dd8688d15196	g.chr10:104590667C>T	ENST00000369887.3	-	8	1490	c.1319G>A	c.(1318-1320)cGc>cAc	p.R440H	CYP17A1-AS1_ENST00000369884.4_RNA|CYP17A1_ENST00000489268.1_5'Flank	NM_000102.3	NP_000093.1	P05093	CP17A_HUMAN	cytochrome P450, family 17, subfamily A, polypeptide 1	440			R -> H (in AH5). {ECO:0000269|PubMed:8027220}.		adrenal gland development (GO:0030325)|androgen biosynthetic process (GO:0006702)|biphenyl metabolic process (GO:0018879)|cellular response to antibiotic (GO:0071236)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to lipopolysaccharide (GO:0071222)|dibenzo-p-dioxin metabolic process (GO:0018894)|glucocorticoid biosynthetic process (GO:0006704)|hippocampus development (GO:0021766)|hormone biosynthetic process (GO:0042446)|Leydig cell differentiation (GO:0033327)|ovulation (GO:0030728)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|progesterone metabolic process (GO:0042448)|response to acetate (GO:0010034)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to herbicide (GO:0009635)|response to insecticide (GO:0017085)|response to ionizing radiation (GO:0010212)|response to methylmercury (GO:0051597)|response to nutrient levels (GO:0031667)|response to retinoic acid (GO:0032526)|response to steroid hormone (GO:0048545)|sex differentiation (GO:0007548)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	axon (GO:0030424)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)	17-alpha-hydroxyprogesterone aldolase activity (GO:0047442)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|steroid 17-alpha-monooxygenase activity (GO:0004508)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	Abiraterone(DB05812)|Aminophenazone(DB01424)|Dexamethasone(DB01234)|Metoclopramide(DB01233)|Progesterone(DB00396)	TATACAGGAGCGAGGTCCTGC	0.597																																																0			GRCh37	CM940326	CYP17A1	M							34	28	30					10																	104590667		2203	4299	6502	SO:0001583	missense	1586			M19489	CCDS7541.1	10q24.3	2010-05-04	2003-02-14	2003-02-28	ENSG00000148795	ENSG00000148795	1.14.99.9	"Cytochrome P450s"	2593	protein-coding gene	gene with protein product	"Steroid 17-alpha-monooxygenase"	609300	"cytochrome P450, subfamily XVII (steroid 17-alpha-hydroxylase), adrenal hyperplasia"	CYP17		1347802	Standard	NM_000102		Approved	P450C17, CPT7, S17AH	uc001kwg.3	P05093	OTTHUMG00000018969	ENST00000369887.3:c.1319G>A	chr10.hg19:g.104590667C>T	ENSP00000358903:p.Arg440His		Q5TZV7	Missense_Mutation	SNP	ENST00000369887.3	hg19	CCDS7541.1	.	.	.	.	.	.	.	.	.	.	C	35	5.529855	0.96446	.	.	ENSG00000148795	ENST00000369887	D	0.92805	-3.11	5.62	5.62	0.85841	Cytochrome P450, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.97195	0.9083	M	0.92784	3.345	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97779	1.0231	10	0.87932	D	0	.	19.259	0.93959	0.0:1.0:0.0:0.0	.	440	P05093	CP17A_HUMAN	H	440	ENSP00000358903:R440H	ENSP00000358903:R440H	R	-	2	0	CYP17A1	104580657	1.000000	0.71417	0.996000	0.52242	0.970000	0.65996	7.281000	0.78621	2.650000	0.89964	0.555000	0.69702	CGC		0.597	CYP17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050101.1	NM_000102		T	104590667	C	T	104590667	3	4	779	1	0	0	0	0	1	0	0	0	4149	768	27	1	211	1	CYP17A1	10	104590667	Missense_Mutation	SNP	C	TCGA-PJ-A5Z8-01A-11D-A28G-10	2875164	104590667	30944080	38	46070											
NLRP6	171389	hgsc.bcm.edu	37	11	284253	284253	+	Missense_Mutation	SNP	A	A	G	rs150530901		TCGA-PJ-A5Z8-01A-11D-A28G-10	TCGA-PJ-A5Z8-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8661bd12-fa20-4263-b1ab-034a4b225560	32a7ff68-4d91-4377-bc04-dd8688d15196	g.chr11:284253A>G	ENST00000312165.5	+	6	2225	c.2225A>G	c.(2224-2226)gAc>gGc	p.D742G	NLRP6_ENST00000534750.1_Missense_Mutation_p.D741G	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	742					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)		AAACTCCCTGACGCGGTCTGC	0.627																																																0								A	GLY/ASP	1,4405	2.1+/-5.4	0,1,2202	43	42	42		2225	1.4	0	11	dbSNP_134	42	0,8600		0,0,4300	no	missense	NLRP6	NM_138329.1	94	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	benign	742/893	284253	1,13005	2203	4300	6503	SO:0001583	missense	171389			AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"Nucleotide-binding domain and leucine rich repeat containing"	22944	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"	609650	"NACHT, leucine rich repeat and PYD containing 6"	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.2225A>G	chr11.hg19:g.284253A>G	ENSP00000309767:p.Asp742Gly		A8K9F3|E9PJZ8	Missense_Mutation	SNP	ENST00000312165.5	hg19	CCDS7693.1	.	.	.	.	.	.	.	.	.	.	A	3.343	-0.134159	0.06711	2.27E-4	0.0	ENSG00000174885	ENST00000534750;ENST00000312165	T;T	0.57273	0.41;0.41	2.61	1.44	0.22558	.	0.174398	0.23650	U	0.045934	T	0.59018	0.2163	L	0.58354	1.805	0.09310	N	1	D;D	0.63880	0.972;0.993	P;D	0.72338	0.689;0.977	T	0.48222	-0.9054	10	0.19590	T	0.45	.	5.8126	0.18475	0.7241:0.2759:0.0:0.0	.	741;742	E9PJZ8;P59044	.;NALP6_HUMAN	G	741;742	ENSP00000433617:D741G;ENSP00000309767:D742G	ENSP00000309767:D742G	D	+	2	0	NLRP6	274253	0.000000	0.05858	0.013000	0.15412	0.149000	0.21700	0.094000	0.15107	0.419000	0.25927	0.374000	0.22700	GAC		0.627	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239283.1	NM_138329		G	284253	A	G	284253	3	3	779	1	0	0	0	0	1	0	0	0	10483	275	10	3	2247	3	NLRP6	11	284253	Missense_Mutation	SNP	A	TCGA-PJ-A5Z8-01A-11D-A28G-10		284253	134722263	39	46071											
CTSD	1509	hgsc.bcm.edu	37	11	1785082	1785082	+	Missense_Mutation	SNP	G	G	A			TCGA-PJ-A5Z8-01A-11D-A28G-10	TCGA-PJ-A5Z8-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8661bd12-fa20-4263-b1ab-034a4b225560	32a7ff68-4d91-4377-bc04-dd8688d15196	g.chr11:1785082G>A	ENST00000236671.2	-	1	140	c.8C>T	c.(7-9)cCc>cTc	p.P3L	AC068580.5_ENST00000446489.1_RNA|AC068580.1_ENST00000580120.1_RNA|AC068580.6_ENST00000449248.1_RNA	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	3					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|autophagic vacuole assembly (GO:0000045)|cell death (GO:0008219)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(1)|large_intestine(4)|lung(8)	13		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;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	AAGGCTGGAGGGCTGCATGGC	0.736																																																0																																										SO:0001583	missense	1509			M11233	CCDS7725.1	11p15.5	2009-06-26	2006-12-05		ENSG00000117984	ENSG00000117984	3.4.23.5	"Cathepsins"	2529	protein-coding gene	gene with protein product	"ceroid-lipofuscinosis, neuronal 10"	116840	"cathepsin D (lysosomal aspartyl protease)"	CPSD		3927292	Standard	NM_001909		Approved	CLN10	uc001luc.2	P07339	OTTHUMG00000044760	ENST00000236671.2:c.8C>T	chr11.hg19:g.1785082G>A	ENSP00000236671:p.Pro3Leu		Q6IB57	Missense_Mutation	SNP	ENST00000236671.2	hg19	CCDS7725.1	.	.	.	.	.	.	.	.	.	.	g	8.700	0.909609	0.17833	.	.	ENSG00000117984	ENST00000236671	T	0.52295	0.67	3.51	1.34	0.21922	.	3.791350	0.01307	N	0.010510	T	0.26231	0.0640	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.19289	-1.0310	10	0.12103	T	0.63	.	4.9541	0.14031	0.122:0.0:0.6694:0.2087	.	3	P07339	CATD_HUMAN	L	3	ENSP00000236671:P3L	ENSP00000236671:P3L	P	-	2	0	CTSD	1741658	0.001000	0.12720	0.258000	0.24420	0.029000	0.11900	0.135000	0.15952	0.769000	0.33313	0.549000	0.68633	CCC		0.736	CTSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104272.5	NM_001909		A	1785082	G	A	1785082	3	1	779	1	0	0	0	0	1	0	0	0	4034	1232	43	2	1266	2	CTSD	11	1785082	Missense_Mutation	SNP	G	TCGA-PJ-A5Z8-01A-11D-A28G-10	1500829	1785082	133221434	40	46072											
NUP98	4928	hgsc.bcm.edu	37	11	3789956	3789956	+	Frame_Shift_Del	DEL	G	G	-			TCGA-PJ-A5Z8-01A-11D-A28G-10	TCGA-PJ-A5Z8-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8661bd12-fa20-4263-b1ab-034a4b225560	32a7ff68-4d91-4377-bc04-dd8688d15196	g.chr11:3789956delG	ENST00000324932.7	-	8	1223	c.803delC	c.(802-804)acafs	p.T268fs	NUP98_ENST00000397007.4_Frame_Shift_Del_p.T268fs|NUP98_ENST00000397004.4_Frame_Shift_Del_p.T268fs|NUP98_ENST00000355260.3_Frame_Shift_Del_p.T268fs|NUP98_ENST00000359171.4_Frame_Shift_Del_p.T268fs	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	268	FG repeats 2.|Gly/Thr-rich.				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)		ACCTGGATTTGTTCCAAATCC	0.378			T	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"	AML																																		Dom	yes		11	11p15	4928	nucleoporin 98kDa		L	0													121	116	118					11																	3789956		2201	4298	6499	SO:0001589	frameshift_variant	4928			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.803delC	chr11.hg19:g.3789956delG	ENSP00000316032:p.Thr268fs		Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Frame_Shift_Del	DEL	ENST00000324932.7	hg19	CCDS7746.1																																																																																				0.378	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320		-	3789956	G	-	3789956	7	5	779	1	0	1	0	1	0	0	0	0	10775	1377	48	0	4775	0	NUP98	11	3789956	Frame_Shift_Del	DEL	G	TCGA-PJ-A5Z8-01A-11D-A28G-10	2004874	3789956	131216560	41	46073											
MRGPRX4	117196	hgsc.bcm.edu	37	11	18195097	18195097	+	Silent	SNP	C	C	T	rs267602809		TCGA-PJ-A5Z8-01A-11D-A28G-10	TCGA-PJ-A5Z8-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8661bd12-fa20-4263-b1ab-034a4b225560	32a7ff68-4d91-4377-bc04-dd8688d15196	g.chr11:18195097C>T	ENST00000314254.3	+	1	714	c.294C>T	c.(292-294)ctC>ctT	p.L98L	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	98						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						GCAAAATCCTCGTTTCTGTGA	0.527																																																0													129	103	112					11																	18195097		2199	4293	6492	SO:0001819	synonymous_variant	117196			AY042216	CCDS7831.1	11p15.1	2013-10-10			ENSG00000179817	ENSG00000179817		"GPCR / Class A : Orphans"	17617	protein-coding gene	gene with protein product		607230				11551509	Standard	NM_054032		Approved	MRGX4	uc001mnv.1	Q96LA9	OTTHUMG00000166442	ENST00000314254.3:c.294C>T	chr11.hg19:g.18195097C>T			Q3KNU3|Q3KNU4|Q502W0|Q8TDD6|Q8TDD7	Silent	SNP	ENST00000314254.3	hg19	CCDS7831.1																																																																																				0.527	MRGPRX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389788.1	NM_054032		T	18195097	C	T	18195097	2	4	779	1	0	0	0	0	0	0	0	1	9771	871	31	1		1	MRGPRX4	11	18195097	Silent	SNP	C	TCGA-PJ-A5Z8-01A-11D-A28G-10	14405141	18195097	116811419	42	46074											
LRP5	4041	hgsc.bcm.edu	37	11	68181318	68181318	+	Missense_Mutation	SNP	G	G	T			TCGA-PJ-A5Z8-01A-11D-A28G-10	TCGA-PJ-A5Z8-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8661bd12-fa20-4263-b1ab-034a4b225560	32a7ff68-4d91-4377-bc04-dd8688d15196	g.chr11:68181318G>T	ENST00000294304.7	+	12	2771	c.2665G>T	c.(2665-2667)Gtg>Ttg	p.V889L		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	889	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						CCTGGACTTCGTGATGGACAT	0.592																																																0													87	76	79					11																	68181318		2200	4294	6494	SO:0001583	missense	4041			AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"Low density lipoprotein receptors"	6697	protein-coding gene	gene with protein product		603506	"osteoporosis pseudoglioma syndrome", "exudative vitreoretinopathy 1"	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.2665G>T	chr11.hg19:g.68181318G>T	ENSP00000294304:p.Val889Leu		Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	ENST00000294304.7	hg19	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.708228	0.89018	.	.	ENSG00000162337	ENST00000294304	D	0.91407	-2.84	5.02	5.02	0.67125	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.43579	U	0.000546	D	0.88815	0.6539	N	0.25957	0.775	0.58432	D	0.999999	P;P	0.39759	0.687;0.687	P;P	0.48368	0.575;0.575	D	0.86093	0.1551	10	0.21540	T	0.41	.	18.5313	0.90993	0.0:0.0:1.0:0.0	.	889;889	Q9UES7;O75197	.;LRP5_HUMAN	L	889	ENSP00000294304:V889L	ENSP00000294304:V889L	V	+	1	0	LRP5	67937894	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.610000	0.54125	2.601000	0.87937	0.561000	0.74099	GTG		0.592	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		T	68181318	G	T	68181318	3	4	779	1	0	0	0	0	1	0	0	0	8962	1145	40	4	2711	4	LRP5	11	68181318	Missense_Mutation	SNP	G	TCGA-PJ-A5Z8-01A-11D-A28G-10	49986221	68181318	66825198	43	46075											
DNAJC14	85406	hgsc.bcm.edu	37	12	56217194	56217194	+	Missense_Mutation	SNP	C	C	G	rs541345798		TCGA-PJ-A5Z8-01A-11D-A28G-10	TCGA-PJ-A5Z8-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8661bd12-fa20-4263-b1ab-034a4b225560	32a7ff68-4d91-4377-bc04-dd8688d15196	g.chr12:56217194C>G	ENST00000357606.3	-	4	1795	c.1506G>C	c.(1504-1506)gaG>gaC	p.E502D	RP11-762I7.5_ENST00000546837.1_Missense_Mutation_p.V132L|RP11-762I7.5_ENST00000552719.1_5'Flank|DNAJC14_ENST00000317269.3_Missense_Mutation_p.E502D|DNAJC14_ENST00000317287.5_Missense_Mutation_p.E502D			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	502	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				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						ACATCTCATACTCCTTTCGCT	0.463																																																0													95	84	87					12																	56217194		2203	4300	6503	SO:0001583	missense	85406			AF141342	CCDS8894.1	12q12	2011-09-02				ENSG00000135392		"Heat shock proteins / DNAJ (HSP40)"	24581	protein-coding gene	gene with protein product		606092				11331877, 11984006	Standard	NM_032364		Approved	DNAJ, DRIP78, HDJ3, LIP6, FLJ32792	uc001shu.2	Q6Y2X3		ENST00000357606.3:c.1506G>C	chr12.hg19:g.56217194C>G	ENSP00000350223:p.Glu502Asp		A5YM67|Q17RY2|Q66K17|Q96N59|Q96T63	Missense_Mutation	SNP	ENST00000357606.3	hg19	CCDS8894.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.64|17.64	3.439259|3.439259	0.63067|0.63067	.|.	.|.	ENSG00000135392|ENSG00000257390	ENST00000357606;ENST00000317269;ENST00000537962;ENST00000317287|ENST00000546837	T;T;T|.	0.32023|.	1.47;1.47;1.47|.	5.85|5.85	4.7|4.7	0.59300|0.59300	Heat shock protein DnaJ, N-terminal (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.45657|0.45657	0.1353|0.1353	L|L	0.35542|0.35542	1.07|1.07	0.49483|0.49483	D|D	0.999795|0.999795	B;B|.	0.29766|.	0.256;0.256|.	P;P|.	0.50231|.	0.635;0.635|.	T|T	0.33240|0.33240	-0.9876|-0.9876	10|5	0.42905|.	T|.	0.14|.	-16.2803|-16.2803	7.9219|7.9219	0.29850|0.29850	0.0:0.1589:0.0:0.8411|0.0:0.1589:0.0:0.8411	.|.	502;502|.	Q6Y2X3;A8K5A7|.	DJC14_HUMAN;.|.	D|L	502;502;212;502|132	ENSP00000350223:E502D;ENSP00000316240:E502D;ENSP00000317500:E502D|.	ENSP00000316240:E502D|.	E|V	-|-	3|1	2|0	DNAJC14|RP11-762I7.5	54503461|54503461	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	2.807000|2.807000	0.47955|0.47955	1.141000|1.141000	0.42275|0.42275	-0.294000|-0.294000	0.09567|0.09567	GAG|GTA		0.463	DNAJC14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409095.1	NM_032364		G	56217194	C	G	56217194	3	3	779	1	0	0	0	0	1	0	0	0	4635	564	20	4	622	4	DNAJC14	12	56217194	Missense_Mutation	SNP	C	TCGA-PJ-A5Z8-01A-11D-A28G-10		56217194	77634701	44	46076											
RDH16	8608	hgsc.bcm.edu	37	12	57346721	57346721	+	Frame_Shift_Del	DEL	A	A	-			TCGA-PJ-A5Z8-01A-11D-A28G-10	TCGA-PJ-A5Z8-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8661bd12-fa20-4263-b1ab-034a4b225560	32a7ff68-4d91-4377-bc04-dd8688d15196	g.chr12:57346721delA	ENST00000398138.3	-	3	1482	c.626delT	c.(625-627)ttcfs	p.F209fs	RDH16_ENST00000360752.4_5'UTR	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN	retinol dehydrogenase 16 (all-trans)	209					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	electron carrier activity (GO:0009055)|retinol dehydrogenase activity (GO:0004745)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						AGCAGTCTTGAAATAGCCAGG	0.507																																					GBM(179;741 2921 43105 45298)											0													128	124	125					12																	57346721		1873	4112	5985	SO:0001589	frameshift_variant	8608				CCDS41797.1	12q13.3	2011-09-14	2006-05-09			ENSG00000139547		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	29674	protein-coding gene	gene with protein product	"microsomal NAD+ dependent retinol dehydrogenase 4", "short chain dehydrogenase/reductase family 9C, member 8"		"retinol dehydrogenase 16 (all-trans and 13-cis)"			9677409, 10329026, 19027726	Standard	NM_003708		Approved	RODH-4, SDR9C8	uc001smi.4	O75452		ENST00000398138.3:c.626delT	chr12.hg19:g.57346721delA	ENSP00000381206:p.Phe209fs		Q9UNV2	Frame_Shift_Del	DEL	ENST00000398138.3	hg19	CCDS41797.1																																																																																				0.507	RDH16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410898.1	NM_003708		-	57346721	A	-	57346721	7	5	779	1	0	1	0	1	0	0	0	0	13200	246	9	0	335	0	RDH16	12	57346721	Frame_Shift_Del	DEL	A	TCGA-PJ-A5Z8-01A-11D-A28G-10	1129527	57346721	76505174	45	46077											
MON2	23041	hgsc.bcm.edu	37	12	62954348	62954349	+	Frame_Shift_Ins	INS	-	-	T			TCGA-PJ-A5Z8-01A-11D-A28G-10	TCGA-PJ-A5Z8-10A-01D-A28G-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8661bd12-fa20-4263-b1ab-034a4b225560	32a7ff68-4d91-4377-bc04-dd8688d15196	g.chr12:62954348_62954349insT	ENST00000393632.2	+	26	3878_3879	c.3487_3488insT	c.(3487-3489)ctgfs	p.L1163fs	MON2_ENST00000393629.2_Frame_Shift_Ins_p.L1163fs|MON2_ENST00000552738.1_Frame_Shift_Ins_p.L1140fs|MON2_ENST00000393630.3_Frame_Shift_Ins_p.L1164fs|MON2_ENST00000546600.1_Frame_Shift_Ins_p.L1163fs|MON2_ENST00000280379.6_Frame_Shift_Ins_p.L1164fs	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	1163					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)		TGAAGTATCTCTGGCTGCTCTG	0.411																																																0																																										SO:0001589	frameshift_variant	23041				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.3488dupT	chr12.hg19:g.62954349_62954349dupT	ENSP00000377252:p.Leu1163fs		A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Frame_Shift_Ins	INS	ENST00000393632.2	hg19	CCDS31849.1																																																																																				0.411	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3	NM_015026		T	62954349	-	T	62954348	7	5	779	1	0	1	1	0	0	0	0	0	9702	912	32	0	3589	0	MON2	12	62954348	Frame_Shift_Ins	INS	-	TCGA-PJ-A5Z8-01A-11D-A28G-10	5607627	62954348	70897547	46	46078											
DDX54	79039	hgsc.bcm.edu	37	12	113610195	113610195	+	Silent	SNP	G	G	A			TCGA-PJ-A5Z8-01A-11D-A28G-10	TCGA-PJ-A5Z8-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8661bd12-fa20-4263-b1ab-034a4b225560	32a7ff68-4d91-4377-bc04-dd8688d15196	g.chr12:113610195G>A	ENST00000306014.5	-	11	1269	c.1242C>T	c.(1240-1242)agC>agT	p.S414S	DDX54_ENST00000314045.7_Silent_p.S414S	NM_024072.3	NP_076977.3	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	414	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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						TGGCGGGGAAGCTGTAGTTGA	0.637																																																0													82	67	72					12																	113610195		2203	4300	6503	SO:0001819	synonymous_variant	79039			AF144056	CCDS31907.1, CCDS44984.1	12q24.11	2006-01-30				ENSG00000123064		"DEAD-boxes"	20084	protein-coding gene	gene with protein product		611665				12466272	Standard	NM_001111322		Approved	MGC2835, APR-5, DP97	uc001tuq.4	Q8TDD1	OTTHUMG00000169676	ENST00000306014.5:c.1242C>T	chr12.hg19:g.113610195G>A			Q86YT8|Q9BRZ1	Silent	SNP	ENST00000306014.5	hg19	CCDS31907.1																																																																																				0.637	DDX54-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405435.1	NM_024072		A	113610195	G	A	113610195	2	1	779	1	0	0	0	0	0	0	0	1	4374	962	34	2		2	DDX54	12	113610195	Silent	SNP	G	TCGA-PJ-A5Z8-01A-11D-A28G-10	50655847	113610195	20241700	47	46079											
C14orf106	55320	hgsc.bcm.edu	37	14	45693181	45693181	+	Missense_Mutation	SNP	C	C	T			TCGA-PJ-A5Z8-01A-11D-A28G-10	TCGA-PJ-A5Z8-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8661bd12-fa20-4263-b1ab-034a4b225560	32a7ff68-4d91-4377-bc04-dd8688d15196	g.chr14:45693181C>T	ENST00000310806.4	-	11	3067	c.2609G>A	c.(2608-2610)tGc>tAc	p.C870Y		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	870					CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						ACCAGGTAAGCATTCTAAGGG	0.388																																																0													95	90	91					14																	45693181		2203	4300	6503	SO:0001583	missense	55320			AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"kinetochore null 2 homolog (C. elegans)"		"chromosome 14 open reading frame 106"	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.2609G>A	chr14.hg19:g.45693181C>T	ENSP00000309790:p.Cys870Tyr		D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Missense_Mutation	SNP	ENST00000310806.4	hg19	CCDS9684.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.229082	0.00280	.	.	ENSG00000129534	ENST00000310806	T	0.17691	2.26	5.72	2.87	0.33458	Homeodomain-like (1);	0.719999	0.14355	N	0.324833	T	0.12220	0.0297	L	0.57536	1.79	0.09310	N	1	P	0.51351	0.944	B	0.40165	0.321	T	0.10590	-1.0623	10	0.02654	T	1	0.5125	5.2769	0.15655	0.162:0.665:0.0:0.173	.	870	Q6P0N0	M18BP_HUMAN	Y	870	ENSP00000309790:C870Y	ENSP00000309790:C870Y	C	-	2	0	MIS18BP1	44762931	0.000000	0.05858	0.007000	0.13788	0.137000	0.21094	0.035000	0.13797	0.413000	0.25759	0.655000	0.94253	TGC		0.388	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276795.2			T	45693181	C	T	45693181	3	4	779	1	0	0	0	0	1	0	0	0	1740	710	25	2	817	2	C14orf106	14	45693181	Missense_Mutation	SNP	C	TCGA-PJ-A5Z8-01A-11D-A28G-10		45693181	61656359	48	46080											
ZBTB1	22890	hgsc.bcm.edu	37	14	64989255	64989256	+	Frame_Shift_Ins	INS	-	-	T			TCGA-PJ-A5Z8-01A-11D-A28G-10	TCGA-PJ-A5Z8-10A-01D-A28G-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8661bd12-fa20-4263-b1ab-034a4b225560	32a7ff68-4d91-4377-bc04-dd8688d15196	g.chr14:64989255_64989256insT	ENST00000554015.1	+	4	1464_1465	c.1033_1034insT	c.(1033-1035)attfs	p.I345fs	ZBTB1_ENST00000358738.3_Frame_Shift_Ins_p.I345fs|ZBTB1_ENST00000394712.2_Frame_Shift_Ins_p.I345fs|RP11-973N13.4_ENST00000554918.1_RNA			Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1	345					B cell differentiation (GO:0030183)|innate immune response (GO:0045087)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of pro-T cell differentiation (GO:2000176)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of T cell mediated immunity (GO:0002711)|protein homooligomerization (GO:0051260)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		CTTTAACATTATTAAAGTTACT	0.347																																																0																																										SO:0001589	frameshift_variant	22890			AB023214	CCDS32097.1, CCDS45126.1	14q23.3	2013-01-09			ENSG00000126804	ENSG00000126804		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	20259	protein-coding gene	gene with protein product						10231032	Standard	NM_014950		Approved	KIAA0997, ZNF909	uc010aqg.3	Q9Y2K1		ENST00000554015.1:c.1035dupT	chr14.hg19:g.64989257_64989257dupT	ENSP00000451000:p.Ile345fs		A8K6S8|Q86SW8	Frame_Shift_Ins	INS	ENST00000554015.1	hg19	CCDS45126.1																																																																																				0.347	ZBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411912.1			T	64989256	-	T	64989255	7	5	779	1	0	1	1	0	0	0	0	0	17527	449	16	0	1035	0	ZBTB1	14	64989255	Frame_Shift_Ins	INS	-	TCGA-PJ-A5Z8-01A-11D-A28G-10	19296074	64989255	42360285	49	46081											
MTA1	9112	hgsc.bcm.edu	37	14	105936238	105936239	+	Frame_Shift_Ins	INS	-	-	G			TCGA-PJ-A5Z8-01A-11D-A28G-10	TCGA-PJ-A5Z8-10A-01D-A28G-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8661bd12-fa20-4263-b1ab-034a4b225560	32a7ff68-4d91-4377-bc04-dd8688d15196	g.chr14:105936238_105936239insG	ENST00000331320.7	+	20	2120_2121	c.1906_1907insG	c.(1906-1908)cggfs	p.R636fs	MTA1_ENST00000406191.1_Frame_Shift_Ins_p.R624fs|MTA1_ENST00000405646.1_Frame_Shift_Ins_p.R619fs|MTA1_ENST00000435036.2_Frame_Shift_Ins_p.R176fs|RP11-521B24.5_ENST00000552675.1_RNA	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	636					circadian regulation of gene expression (GO:0032922)|double-strand break repair (GO:0006302)|entrainment of circadian clock by photoperiod (GO:0043153)|locomotor rhythm (GO:0045475)|positive regulation of protein autoubiquitination (GO:1902499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression, epigenetic (GO:0040029)|regulation of inflammatory response (GO:0050727)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|secretory granule organization (GO:0033363)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|microtubule (GO:0005874)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		GCGCCTGATCCGGGGGGGCTCC	0.663																																																0																																										SO:0001589	frameshift_variant	9112			U35113	CCDS32169.1, CCDS55954.1	14q32.33	2013-01-25			ENSG00000182979	ENSG00000182979		"GATA zinc finger domain containing"	7410	protein-coding gene	gene with protein product		603526				8083195, 7607577	Standard	NM_004689		Approved		uc001yqx.3	Q13330	OTTHUMG00000150362	ENST00000331320.7:c.1913dupG	chr14.hg19:g.105936245_105936245dupG	ENSP00000333633:p.Arg636fs		A5PLK4|Q86SW2|Q8NFI8|Q96GI8	Frame_Shift_Ins	INS	ENST00000331320.7	hg19	CCDS32169.1																																																																																				0.663	MTA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317849.15			G	105936239	-	G	105936238	7	5	779	1	0	1	1	0	0	0	0	0	9910	643	23	0	1984	0	MTA1	14	105936238	Frame_Shift_Ins	INS	-	TCGA-PJ-A5Z8-01A-11D-A28G-10	40946983	105936238	1413302	50	46082											
STOML1	9399	hgsc.bcm.edu	37	15	74281093	74281093	+	Silent	SNP	A	A	G			TCGA-PJ-A5Z8-01A-11D-A28G-10	TCGA-PJ-A5Z8-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8661bd12-fa20-4263-b1ab-034a4b225560	32a7ff68-4d91-4377-bc04-dd8688d15196	g.chr15:74281093A>G	ENST00000316900.5	-	4	565	c.441T>C	c.(439-441)ttT>ttC	p.F147F	STOML1_ENST00000316911.6_Silent_p.F97F|STOML1_ENST00000561656.1_Silent_p.F60F|STOML1_ENST00000564777.1_Silent_p.F97F|STOML1_ENST00000541638.1_Silent_p.F105F|STOML1_ENST00000359750.4_Silent_p.F147F	NM_001256672.1|NM_001256675.1|NM_001256677.1|NM_004809.4	NP_001243601.1|NP_001243604.1|NP_001243606.1|NP_004800.2	Q9UBI4	STML1_HUMAN	stomatin (EPB72)-like 1	147						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						CCCAGATGCGAAACTGGACAT	0.612																																																0													108	100	103					15																	74281093		2198	4297	6495	SO:0001819	synonymous_variant	9399			Y16522	CCDS10254.1, CCDS58381.1, CCDS58382.1, CCDS58383.1, CCDS58384.1, CCDS58385.1	15q24-q25	2008-07-18			ENSG00000067221	ENSG00000067221			14560	protein-coding gene	gene with protein product	"stomatin-like 1", "stomatin (EBP72)-like 1"	608326				9931417	Standard	NM_004809		Approved	hUNC-24, SLP-1, STORP, FLJ36370	uc002awe.4	Q9UBI4	OTTHUMG00000137608	ENST00000316900.5:c.441T>C	chr15.hg19:g.74281093A>G			B3KQN0|B4DUU5|B4DXM9|E7ESC0|H3BRP3|O95675|Q4PNR4|Q6FGL8|Q8WYI7|Q9UMB9|Q9UMC0|Q9Y6H9	Silent	SNP	ENST00000316900.5	hg19	CCDS10254.1																																																																																				0.612	STOML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269022.1	NM_004809		G	74281093	A	G	74281093	2	3	779	1	0	0	0	0	0	0	0	1	15318	243	9	3		3	STOML1	15	74281093	Silent	SNP	A	TCGA-PJ-A5Z8-01A-11D-A28G-10		74281093	28250299	51	46083											
LMAN1L	79748	hgsc.bcm.edu	37	15	75111060	75111060	+	Splice_Site	SNP	G	G	T			TCGA-PJ-A5Z8-01A-11D-A28G-10	TCGA-PJ-A5Z8-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8661bd12-fa20-4263-b1ab-034a4b225560	32a7ff68-4d91-4377-bc04-dd8688d15196	g.chr15:75111060G>T	ENST00000309664.5	+	5	638	c.499G>T	c.(499-501)Gat>Tat	p.D167Y	RP11-414J4.2_ENST00000564823.1_RNA|LMAN1L_ENST00000379709.3_Splice_Site_p.D167Y	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	167	L-type lectin-like. {ECO:0000255|PROSITE- ProRule:PRU00658}.					integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGCCCACAGGGATGGAGCTAG	0.577																																																0													38	32	34					15																	75111060		2197	4295	6492	SO:0001630	splice_region_variant	79748			AF303398	CCDS10270.1	15q24.1	2005-08-05			ENSG00000140506	ENSG00000140506			6632	protein-coding gene	gene with protein product		609548				11255007	Standard	NM_021819		Approved	ERGL, ERGIC-53L	uc002ayt.1	Q9HAT1	OTTHUMG00000142813	ENST00000309664.5:c.498-1G>T	chr15.hg19:g.75111060G>T			Q6UWN2	Missense_Mutation	SNP	ENST00000309664.5	hg19	CCDS10270.1	.	.	.	.	.	.	.	.	.	.	G	9.914	1.210396	0.22289	.	.	ENSG00000140506	ENST00000309664;ENST00000456603;ENST00000379709	T;T	0.69685	-0.42;-0.42	4.89	0.74	0.18330	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.786555	0.11191	N	0.589939	T	0.75752	0.3892	M	0.87456	2.885	0.53005	D	0.999961	B;D;B;B	0.59767	0.009;0.986;0.009;0.271	B;P;B;B	0.54100	0.018;0.742;0.018;0.121	T	0.71790	-0.4486	10	0.87932	D	0	.	5.9881	0.19446	0.1621:0.0:0.5719:0.266	.	59;167;95;167	B4DGW5;Q9HAT1-3;B4DU67;Q9HAT1	.;.;.;LMA1L_HUMAN	Y	167;59;167	ENSP00000310431:D167Y;ENSP00000369031:D167Y	ENSP00000310431:D167Y	D	+	1	0	LMAN1L	72898113	1.000000	0.71417	0.051000	0.19133	0.011000	0.07611	1.479000	0.35453	-0.273000	0.09246	-2.281000	0.00270	GAT		0.577	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286397.4		Missense_Mutation	T	75111060	G	T	75111060	5	4	779	1	0	0	0	0	0	0	1	0	8839	1188	41	4	517	4	LMAN1L	15	75111060	Splice_Site	SNP	G	TCGA-PJ-A5Z8-01A-11D-A28G-10	829967	75111060	27420332	52	46084											
ST8SIA2	8128	hgsc.bcm.edu	37	15	93007416	93007417	+	Missense_Mutation	DNP	TC	TC	AT			TCGA-PJ-A5Z8-01A-11D-A28G-10	TCGA-PJ-A5Z8-10A-01D-A28G-10	T|C	T|C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8661bd12-fa20-4263-b1ab-034a4b225560	32a7ff68-4d91-4377-bc04-dd8688d15196	g.chr15:93007416_93007417TC>AT	ENST00000268164.3	+	6	1166_1167	c.929_930TC>AT	c.(928-930)aTC>aAT	p.I310N	ST8SIA2_ENST00000539113.1_Missense_Mutation_p.I289N	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	310					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|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)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	early endosome (GO:0005769)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|recycling endosome (GO:0055037)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			TGCAAACAAATCTACCTCTACG	0.49																																																0																																										SO:0001583	missense	8128			U33551	CCDS10372.1	15q26	2013-03-01	2003-01-14	2005-02-07	ENSG00000140557	ENSG00000140557		"Sialyltransferases"	10870	protein-coding gene	gene with protein product		602546	"sialyltransferase 8 (alpha-2, 8-sialytransferase) B"	SIAT8B		7559389	Standard	NM_006011		Approved	STX, ST8SIA-II, HsT19690	uc002bra.3	Q92186	OTTHUMG00000149843	Exception_encountered	chr15.hg19:g.93007416_93007417delinsAT	ENSP00000268164:p.Ile310Asn		Q4VAZ0|Q92470|Q92746	Missense_Mutation|Silent	SNP	ENST00000268164.3	hg19	CCDS10372.1																																																																																				0.49	ST8SIA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313526.1	NM_006011		AT	93007417	TC	AT	93007416	3	1	779	1	0	0	0	0	1	0	0	0	15237	1435	50	5	951	5	ST8SIA2	15	93007416	Missense_Mutation	DNP	TC	TCGA-PJ-A5Z8-01A-11D-A28G-10	17896356	93007416	9523976	53	46085											
MMP15	4324	hgsc.bcm.edu	37	16	58079023	58079023	+	Missense_Mutation	SNP	G	G	C			TCGA-PJ-A5Z8-01A-11D-A28G-10	TCGA-PJ-A5Z8-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8661bd12-fa20-4263-b1ab-034a4b225560	32a7ff68-4d91-4377-bc04-dd8688d15196	g.chr16:58079023G>C	ENST00000219271.3	+	10	2468	c.1683G>C	c.(1681-1683)gaG>gaC	p.E561D		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	561					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)	GCTGCCAGGAGCACGTGGAGC	0.682																																																0													15	15	15					16																	58079023		2197	4298	6495	SO:0001583	missense	4324			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.1683G>C	chr16.hg19:g.58079023G>C	ENSP00000219271:p.Glu561Asp		A0A2U6|Q14111	Missense_Mutation	SNP	ENST00000219271.3	hg19	CCDS10792.1	.	.	.	.	.	.	.	.	.	.	G	10.32	1.316412	0.23908	.	.	ENSG00000102996	ENST00000219271	T	0.15952	2.38	4.5	1.48	0.22813	Hemopexin/matrixin (1);	0.444889	0.25380	N	0.031083	T	0.07324	0.0185	N	0.08118	0	0.36663	D	0.878058	P	0.49185	0.92	P	0.45232	0.474	T	0.41662	-0.9496	10	0.15952	T	0.53	.	3.3205	0.07048	0.2891:0.0:0.5282:0.1827	.	561	P51511	MMP15_HUMAN	D	561	ENSP00000219271:E561D	ENSP00000219271:E561D	E	+	3	2	MMP15	56636524	1.000000	0.71417	0.967000	0.41034	0.905000	0.53344	1.330000	0.33781	0.167000	0.19631	-0.277000	0.10078	GAG		0.682	MMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257342.1	NM_002428		C	58079023	G	C	58079023	3	2	779	1	0	0	0	0	1	0	0	0	9656	962	34	4	1721	4	MMP15	16	58079023	Missense_Mutation	SNP	G	TCGA-PJ-A5Z8-01A-11D-A28G-10		58079023	32275730	54	46086											
CLEC18B	497190	hgsc.bcm.edu	37	16	74447559	74447559	+	Missense_Mutation	SNP	A	A	T			TCGA-PJ-A5Z8-01A-11D-A28G-10	TCGA-PJ-A5Z8-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8661bd12-fa20-4263-b1ab-034a4b225560	32a7ff68-4d91-4377-bc04-dd8688d15196	g.chr16:74447559A>T	ENST00000339953.5	-	4	593	c.472T>A	c.(472-474)Tca>Aca	p.S158T		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	158	SCP.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						AGCTGGCTTGAGGTGGCCCAC	0.607																																																0													99	99	99					16																	74447559		2198	4298	6496	SO:0001583	missense	497190			AY358373	CCDS32484.1	16q22.3	2010-04-27	2009-03-10	2009-03-10		ENSG00000140839		"C-type lectin domain containing"	33849	protein-coding gene	gene with protein product							Standard	NM_001011880		Approved		uc002fct.3	Q6UXF7		ENST00000339953.5:c.472T>A	chr16.hg19:g.74447559A>T	ENSP00000341051:p.Ser158Thr		B4DF90	Missense_Mutation	SNP	ENST00000339953.5	hg19	CCDS32484.1	.	.	.	.	.	.	.	.	.	.	a	14.17	2.454450	0.43634	.	.	ENSG00000140839	ENST00000429489;ENST00000339953;ENST00000268492;ENST00000425714	T	0.08807	3.05	3.1	3.1	0.35709	CAP domain (3);	0.000000	0.64402	D	0.000001	T	0.12390	0.0301	N	0.21545	0.675	0.42457	D	0.992777	D;P;D	0.63880	0.993;0.95;0.983	D;P;D	0.77557	0.99;0.871;0.928	T	0.22871	-1.0204	10	0.23891	T	0.37	.	7.6588	0.28392	1.0:0.0:0.0:0.0	.	78;158;158	Q6UXF7-2;C9JSV1;Q6UXF7	.;.;CL18B_HUMAN	T	158;158;158;78	ENSP00000341051:S158T	ENSP00000268492:S158T	S	-	1	0	CLEC18B	73005060	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	6.560000	0.73950	1.286000	0.44565	0.438000	0.28831	TCA		0.607	CLEC18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434697.1	NM_001011880		T	74447559	A	T	74447559	3	4	779	1	0	0	0	0	1	0	0	0	3505	304	11	5	935	5	CLEC18B	16	74447559	Missense_Mutation	SNP	A	TCGA-PJ-A5Z8-01A-11D-A28G-10	16368536	74447559	15907194	55	46087											
DULLARD	23399	hgsc.bcm.edu	37	17	7147902	7147902	+	Silent	SNP	A	A	G			TCGA-PJ-A5Z8-01A-11D-A28G-10	TCGA-PJ-A5Z8-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8661bd12-fa20-4263-b1ab-034a4b225560	32a7ff68-4d91-4377-bc04-dd8688d15196	g.chr17:7147902A>G	ENST00000573600.1	-	8	1063	c.642T>C	c.(640-642)ctT>ctC	p.L214L	GABARAP_ENST00000573928.1_5'Flank|CTDNEP1_ENST00000572043.1_Silent_p.L81L|GABARAP_ENST00000571253.1_5'Flank|GABARAP_ENST00000571129.1_5'Flank|CTD-2545G14.7_ENST00000570760.2_Missense_Mutation_p.F18S|CTDNEP1_ENST00000318988.6_Silent_p.L214L|GABARAP_ENST00000302386.5_5'Flank|GABARAP_ENST00000577035.1_5'Flank|CTDNEP1_ENST00000574322.1_Silent_p.L214L			O95476	CNEP1_HUMAN	CTD nuclear envelope phosphatase 1	214	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						GCAGGTTGAGAAGGGCTGTGT	0.522																																																0													70	67	68					17																	7147902		2203	4300	6503	SO:0001819	synonymous_variant	23399			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.642T>C	chr17.hg19:g.7147902A>G			D3DTN7|Q96GQ9	Silent	SNP	ENST00000573600.1	hg19	CCDS11093.1																																																																																				0.522	CTDNEP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440215.1	NM_015343		G	7147902	A	G	7147902	2	3	779	1	0	0	0	0	0	0	0	1	4801	233	9	3		3	DULLARD	17	7147902	Silent	SNP	A	TCGA-PJ-A5Z8-01A-11D-A28G-10		7147902	74047308	56	46088											
CHD3	1107	hgsc.bcm.edu	37	17	7794342	7794342	+	Missense_Mutation	SNP	C	C	G			TCGA-PJ-A5Z8-01A-11D-A28G-10	TCGA-PJ-A5Z8-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8661bd12-fa20-4263-b1ab-034a4b225560	32a7ff68-4d91-4377-bc04-dd8688d15196	g.chr17:7794342C>G	ENST00000330494.7	+	4	619	c.469C>G	c.(469-471)Cac>Gac	p.H157D	CHD3_ENST00000380358.4_Missense_Mutation_p.H216D|CHD3_ENST00000358181.4_Missense_Mutation_p.H157D	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	157					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GGAGGATTACCACACGCTCAC	0.527																																																0													166	142	150					17																	7794342		2203	4300	6503	SO:0001583	missense	1107			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"Zinc fingers, PHD-type"	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.469C>G	chr17.hg19:g.7794342C>G	ENSP00000332628:p.His157Asp		D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	hg19	CCDS32554.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.56|15.56	2.869301|2.869301	0.51588|0.51588	.|.	.|.	ENSG00000170004|ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494|ENST00000452447	D;D;D|.	0.89746|.	-2.56;-2.49;-2.49|.	4.54|4.54	4.54|4.54	0.55810|0.55810	High mobility group, HMG1/HMG2 (1);CHD, N-terminal (1);|.	0.000000|.	0.48286|.	D|.	0.000185|.	T|T	0.46833|0.46833	0.1413|0.1413	N|N	0.11427|0.11427	0.14|0.14	0.46061|0.46061	D|D	0.998847|0.998847	P;P;P|.	0.42584|.	0.531;0.586;0.784|.	B;B;P|.	0.45753|.	0.275;0.396;0.492|.	T|T	0.43048|0.43048	-0.9415|-0.9415	10|5	0.33940|.	T|.	0.23|.	-20.7739|-20.7739	17.4864|17.4864	0.87689|0.87689	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	157;157;216|.	Q12873-2;Q12873;E9PG89|.	.;CHD3_HUMAN;.|.	D|R	216;157;157|31	ENSP00000369716:H216D;ENSP00000350907:H157D;ENSP00000332628:H157D|.	ENSP00000332628:H157D|.	H|P	+|+	1|2	0|0	CHD3|CHD3	7735067|7735067	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.592000|3.592000	0.53993|0.53993	2.349000|2.349000	0.79799|0.79799	0.557000|0.557000	0.71058|0.71058	CAC|CCA		0.527	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		G	7794342	C	G	7794342	3	3	779	1	0	0	0	0	1	0	0	0	3328	594	21	4	764	4	CHD3	17	7794342	Missense_Mutation	SNP	C	TCGA-PJ-A5Z8-01A-11D-A28G-10	646440	7794342	73400868	57	46089											
MYH3	4621	hgsc.bcm.edu	37	17	10558280	10558281	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-PJ-A5Z8-01A-11D-A28G-10	TCGA-PJ-A5Z8-10A-01D-A28G-10	GG	GG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8661bd12-fa20-4263-b1ab-034a4b225560	32a7ff68-4d91-4377-bc04-dd8688d15196	g.chr17:10558280_10558281delGG	ENST00000583535.1	-	3	188_189	c.101_102delCC	c.(100-102)gccfs	p.A34fs	MYH3_ENST00000226209.7_Frame_Shift_Del_p.A34fs	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	34					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						AATACGTCTTGGCATCAAAGGG	0.485																																																0																																										SO:0001589	frameshift_variant	4621				CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"Myosins / Myosin superfamily : Class II"	7573	protein-coding gene	gene with protein product	"myosin, skeletal, heavy chain, embryonic 1", "muscle embryonic myosin heavy chain 3"	160720	"myosin, heavy polypeptide 3, skeletal muscle, embryonic"			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.101_102delCC	chr17.hg19:g.10558280_10558281delGG	ENSP00000464317:p.Ala34fs		Q15492	Frame_Shift_Del	DEL	ENST00000583535.1	hg19	CCDS11157.1																																																																																				0.485	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		-	10558281	GG	-	10558280	7	5	779	1	0	1	0	1	0	0	0	0	10038	1335	47	0	5876	0	MYH3	17	10558280	Frame_Shift_Del	DEL	GG	TCGA-PJ-A5Z8-01A-11D-A28G-10	2763938	10558280	70636930	58	46090											
SLC47A1	55244	hgsc.bcm.edu	37	17	19449787	19449787	+	Missense_Mutation	SNP	T	T	C			TCGA-PJ-A5Z8-01A-11D-A28G-10	TCGA-PJ-A5Z8-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8661bd12-fa20-4263-b1ab-034a4b225560	32a7ff68-4d91-4377-bc04-dd8688d15196	g.chr17:19449787T>C	ENST00000270570.4	+	3	363	c.277T>C	c.(277-279)Tct>Cct	p.S93P	SLC47A1_ENST00000571335.1_5'UTR|SLC47A1_ENST00000584348.1_3'UTR|SLC47A1_ENST00000575023.1_Missense_Mutation_p.S93P|SLC47A1_ENST00000436810.2_Intron|SLC47A1_ENST00000542886.1_Missense_Mutation_p.S93P|SLC47A1_ENST00000395585.1_Missense_Mutation_p.S93P|SLC47A1_ENST00000457293.1_Missense_Mutation_p.S93P	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	93					organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|monovalent cation:proton antiporter activity (GO:0005451)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)				Aciclovir(DB00787)|Bromodiphenhydramine(DB01237)|Cephalexin(DB00567)|Cimetidine(DB00501)|Metformin(DB00331)|Sirolimus(DB00877)	ATTCGGCTTATCTTCTGCCTG	0.453																																																0													201	160	174					17																	19449787		2203	4300	6503	SO:0001583	missense	55244				CCDS11209.1	17p11.2	2013-07-17	2013-07-17		ENSG00000142494	ENSG00000142494		"Solute carriers"	25588	protein-coding gene	gene with protein product	"multidrug and toxin extrusion 1"	609832				16330770, 16996621, 16928787	Standard	NM_018242		Approved	FLJ10847, MATE1	uc002gvy.1	Q96FL8	OTTHUMG00000059466	ENST00000270570.4:c.277T>C	chr17.hg19:g.19449787T>C	ENSP00000270570:p.Ser93Pro		Q53HF5|Q6PD77|Q86VL4|Q9NVA3	Missense_Mutation	SNP	ENST00000270570.4	hg19	CCDS11209.1	.	.	.	.	.	.	.	.	.	.	T	15.29	2.790304	0.50102	.	.	ENSG00000142494	ENST00000270570;ENST00000457293;ENST00000542886;ENST00000395585	T;T;T;T	0.35605	1.3;1.3;1.3;1.3	5.32	4.17	0.49024	.	0.175212	0.49305	D	0.000151	T	0.65554	0.2702	M	0.91300	3.195	0.39743	D	0.971774	D;D;D	0.71674	0.998;0.984;0.957	D;D;P	0.76575	0.988;0.944;0.906	T	0.75167	-0.3413	10	0.72032	D	0.01	-17.7724	12.3905	0.55356	0.0:0.0:0.1831:0.8169	.	93;93;93	B4DYV3;Q96FL8;Q96FL8-3	.;S47A1_HUMAN;.	P	93	ENSP00000270570:S93P;ENSP00000415586:S93P;ENSP00000440435:S93P;ENSP00000378951:S93P	ENSP00000270570:S93P	S	+	1	0	SLC47A1	19390379	0.016000	0.18221	1.000000	0.80357	0.472000	0.32918	0.078000	0.14761	2.027000	0.59764	0.454000	0.30748	TCT		0.453	SLC47A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132250.1	NM_018242		C	19449787	T	C	19449787	3	2	779	1	0	0	0	0	1	0	0	0	14653	1435	50	3	287	3	SLC47A1	17	19449787	Missense_Mutation	SNP	T	TCGA-PJ-A5Z8-01A-11D-A28G-10	8891507	19449787	61745423	59	46091											
LRRC37A3	374819	hgsc.bcm.edu	37	17	62855782	62855782	+	Silent	SNP	A	A	T			TCGA-PJ-A5Z8-01A-11D-A28G-10	TCGA-PJ-A5Z8-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8661bd12-fa20-4263-b1ab-034a4b225560	32a7ff68-4d91-4377-bc04-dd8688d15196	g.chr17:62855782A>T	ENST00000584306.1	-	11	5012	c.4482T>A	c.(4480-4482)atT>atA	p.I1494I	LRRC37A3_ENST00000334962.5_Silent_p.I471I|LRRC37A3_ENST00000319651.5_Silent_p.I1494I|LRRC37A3_ENST00000339474.5_Silent_p.I612I|LRRC37A3_ENST00000400877.3_Silent_p.I532I	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1494						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						TAACATGAGCAATGAGCCTTC	0.522																																																0													186	189	188					17																	62855782		2203	4300	6503	SO:0001819	synonymous_variant	374819			AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.4482T>A	chr17.hg19:g.62855782A>T			Q49A01|Q49A80|Q8NB33	Silent	SNP	ENST00000584306.1	hg19	CCDS32708.1																																																																																				0.522	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445377.1	NM_199340		T	62855782	A	T	62855782	2	4	779	1	0	0	0	0	0	0	0	1	8995	126	5	5		5	LRRC37A3	17	62855782	Silent	SNP	A	TCGA-PJ-A5Z8-01A-11D-A28G-10	43405995	62855782	18339428	60	46092											
MC5R	4161	hgsc.bcm.edu	37	18	13826448	13826448	+	Silent	SNP	G	G	A			TCGA-PJ-A5Z8-01A-11D-A28G-10	TCGA-PJ-A5Z8-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8661bd12-fa20-4263-b1ab-034a4b225560	32a7ff68-4d91-4377-bc04-dd8688d15196	g.chr18:13826448G>A	ENST00000324750.3	+	1	906	c.684G>A	c.(682-684)gcG>gcA	p.A228A	AP001525.1_ENST00000390194.2_RNA	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	228				ALPGASSARQRTSM -> LCPGPALRGRGPAW (in Ref. 1). {ECO:0000305}.	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						CCAGCTCTGCGCGGCAGAGGA	0.617																																																0													210	180	190					18																	13826448		2203	4300	6503	SO:0001819	synonymous_variant	4161			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.684G>A	chr18.hg19:g.13826448G>A			B0YJ34|Q502V1	Silent	SNP	ENST00000324750.3	hg19	CCDS11868.1																																																																																				0.617	MC5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254638.1	NM_005913		A	13826448	G	A	13826448	2	1	779	1	0	0	0	0	0	0	0	1	9369	1074	38	1		1	MC5R	18	13826448	Silent	SNP	G	TCGA-PJ-A5Z8-01A-11D-A28G-10		13826448	64250800	61	46093											
LAMA3	3909	hgsc.bcm.edu	37	18	21508155	21508158	+	Frame_Shift_Del	DEL	GATT	GATT	-			TCGA-PJ-A5Z8-01A-11D-A28G-10	TCGA-PJ-A5Z8-10A-01D-A28G-10	GATT	GATT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8661bd12-fa20-4263-b1ab-034a4b225560	32a7ff68-4d91-4377-bc04-dd8688d15196	g.chr18:21508155_21508158delGATT	ENST00000313654.9	+	63	8487_8490	c.8246_8249delGATT	c.(8245-8250)agattgfs	p.RL2749fs	LAMA3_ENST00000587184.1_Frame_Shift_Del_p.RL1084fs|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000269217.6_Frame_Shift_Del_p.RL1140fs|LAMA3_ENST00000399516.3_Frame_Shift_Del_p.RL2693fs	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2749	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					GGTGTCGTTAGATTGAATGATACT	0.436																																																0																																										SO:0001589	frameshift_variant	3909			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"Laminins"	6483	protein-coding gene	gene with protein product		600805	"laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.8246_8249delGATT	chr18.hg19:g.21508155_21508158delGATT	ENSP00000324532:p.Arg2749fs		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Frame_Shift_Del	DEL	ENST00000313654.9	hg19	CCDS42419.1																																																																																				0.436	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		-	21508158	GATT	-	21508155	7	5	779	1	0	1	0	1	0	0	0	0	8609	942	33	0	8671	0	LAMA3	18	21508155	Frame_Shift_Del	DEL	GATT	TCGA-PJ-A5Z8-01A-11D-A28G-10	7681707	21508155	56569093	62	46094											
ZNF780A	284323	hgsc.bcm.edu	37	19	40578806	40578806	+	IGR	SNP	A	A	T	rs528950544		TCGA-PJ-A5Z8-01A-11D-A28G-10	TCGA-PJ-A5Z8-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8661bd12-fa20-4263-b1ab-034a4b225560	32a7ff68-4d91-4377-bc04-dd8688d15196	g.chr19:40578806A>T	ENST00000595687.2	-	0	3472				ZNF780A_ENST00000414720.2_Missense_Mutation_p.F145L|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000450241.2_3'UTR	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					agagataaccaaatgcaatgc	0.353																																																0													112	98	103					19																	40578806		692	1591	2283	SO:0001628	intergenic_variant	284323			AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"Zinc fingers, C2H2-type", "-"	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119		chr19.hg19:g.40578806A>T			E9PB48|Q6ZN87	Missense_Mutation	SNP	ENST00000595687.2	hg19	CCDS33026.2	.	.	.	.	.	.	.	.	.	.	A	11.53	1.666731	0.29604	.	.	ENSG00000197782	ENST00000414720	T	0.00620	6.17	0.516	0.516	0.17019	.	.	.	.	.	T	0.00998	0.0033	.	.	.	0.21256	N	0.999747	P	0.46395	0.877	P	0.51866	0.682	T	0.55341	-0.8156	7	0.25751	T	0.34	.	.	.	.	.	145	O75290-2	.	L	145	ENSP00000416294:F145L	ENSP00000416294:F145L	F	-	3	2	ZNF780A	45270646	0.004000	0.15560	0.096000	0.21009	0.182000	0.23217	0.148000	0.16224	0.452000	0.26830	0.254000	0.18369	TTT		0.353	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	NM_001010880		T	40578806	A	T	40578806	1	4	779	0	1	0	0	0	0	0	0	0	18157	127	5	5		5	ZNF780A	19	40578806	IGR	SNP	A	TCGA-PJ-A5Z8-01A-11D-A28G-10		40578806	18550177	63	46095											
PRR19	284338	hgsc.bcm.edu	37	19	42814045	42814045	+	Silent	SNP	C	C	A	rs78424339		TCGA-PJ-A5Z8-01A-11D-A28G-10	TCGA-PJ-A5Z8-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8661bd12-fa20-4263-b1ab-034a4b225560	32a7ff68-4d91-4377-bc04-dd8688d15196	g.chr19:42814045C>A	ENST00000499536.2	+	1	1120	c.309C>A	c.(307-309)ccC>ccA	p.P103P	PRR19_ENST00000341747.3_Silent_p.P103P|PRR19_ENST00000598490.1_Silent_p.P103P			A6NJB7	PRR19_HUMAN	proline rich 19	103										NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10		Prostate(69;0.00682)				CCACACTCCCCGCCAAGCCCT	0.667																																																0													40	51	47					19																	42814045		2203	4300	6503	SO:0001819	synonymous_variant	284338			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.309C>A	chr19.hg19:g.42814045C>A			A8K663|B3KW48|Q6P584	Silent	SNP	ENST00000499536.2	hg19	CCDS33036.1																																																																																				0.667	PRR19-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463735.1	NM_199285		A	42814045	C	A	42814045	2	1	779	1	0	0	0	0	0	0	0	1	12596	639	23	4		4	PRR19	19	42814045	Silent	SNP	C	TCGA-PJ-A5Z8-01A-11D-A28G-10	2235239	42814045	16314938	64	46096											
TRPC4AP	26133	hgsc.bcm.edu	37	20	33603843	33603844	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-PJ-A5Z8-01A-11D-A28G-10	TCGA-PJ-A5Z8-10A-01D-A28G-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8661bd12-fa20-4263-b1ab-034a4b225560	32a7ff68-4d91-4377-bc04-dd8688d15196	g.chr20:33603843_33603844insAA	ENST00000252015.2	-	10	1406_1407	c.1317_1318insTT	c.(1315-1320)ctccatfs	p.H440fs	TRPC4AP_ENST00000451813.2_Frame_Shift_Ins_p.H432fs|TRPC4AP_ENST00000432634.2_Frame_Shift_Ins_p.H401fs|TRPC4AP_ENST00000539834.1_Frame_Shift_Ins_p.H42fs			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	440					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			TTGTGACCATGGAGGACAAGGG	0.5																																																0																																										SO:0001589	frameshift_variant	26133			AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991			16181	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 158"	608430	"chromosome 20 open reading frame 188"	C20orf188			Standard	NM_015638		Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319	ENST00000252015.2:c.1317_1318insTT	chr20.hg19:g.33603843_33603844insAA	ENSP00000252015:p.His440fs		E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Frame_Shift_Ins	INS	ENST00000252015.2	hg19	CCDS13246.1																																																																																				0.5	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078832.2	NM_015638		AA	33603844	-	AA	33603843	7	5	779	1	0	1	1	0	0	0	0	0	16586	1348	47	0	1115	0	TRPC4AP	20	33603843	Frame_Shift_Ins	INS	-	TCGA-PJ-A5Z8-01A-11D-A28G-10		33603843	29421677	65	46097											
DLGAP4	22839	hgsc.bcm.edu	37	20	35064566	35064566	+	Missense_Mutation	SNP	G	G	A	rs199988815		TCGA-PJ-A5Z8-01A-11D-A28G-10	TCGA-PJ-A5Z8-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8661bd12-fa20-4263-b1ab-034a4b225560	32a7ff68-4d91-4377-bc04-dd8688d15196	g.chr20:35064566G>A	ENST00000373907.2	+	3	1253	c.1054G>A	c.(1054-1056)Gat>Aat	p.D352N	DLGAP4_ENST00000401952.2_Missense_Mutation_p.D352N|DLGAP4_ENST00000339266.5_Missense_Mutation_p.D352N|DLGAP4_ENST00000373913.3_Missense_Mutation_p.D352N			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	352					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)				ACGCGAGACGGATGCCGCGGC	0.721																																																0								G	ASN/ASP	0,4334		0,0,2167	9	11	10		1054	4.2	0.2	20		10	2,8418		0,2,4208	no	missense	DLGAP4	NM_014902.4	23	0,2,6375	AA,AG,GG		0.0238,0.0,0.0157	benign	352/990	35064566	2,12752	2167	4210	6377	SO:0001583	missense	22839			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.1054G>A	chr20.hg19:g.35064566G>A	ENSP00000363014:p.Asp352Asn		E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Missense_Mutation	SNP	ENST00000373907.2	hg19		.	.	.	.	.	.	.	.	.	.	G	15.46	2.840492	0.51057	0.0	2.38E-4	ENSG00000080845	ENST00000373913;ENST00000401952;ENST00000373907;ENST00000339266	T;T;T;T	0.13538	2.58;2.58;2.58;2.58	4.22	4.22	0.49857	.	1.057480	0.07332	N	0.879344	T	0.12178	0.0296	N	0.22421	0.69	0.09310	N	1	B	0.19200	0.034	B	0.18871	0.023	T	0.22591	-1.0212	10	0.27082	T	0.32	.	13.7551	0.62933	0.0:0.0:1.0:0.0	.	352	Q9Y2H0-1	.	N	352	ENSP00000363023:D352N;ENSP00000384954:D352N;ENSP00000363014:D352N;ENSP00000341633:D352N	ENSP00000341633:D352N	D	+	1	0	DLGAP4	34497980	0.998000	0.40836	0.243000	0.24186	0.629000	0.37895	3.978000	0.56881	1.913000	0.55393	0.555000	0.69702	GAT		0.721	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2	NM_014902		A	35064566	G	A	35064566	3	1	779	1	0	0	0	0	1	0	0	0	4564	1174	41	2	1060	2	DLGAP4	20	35064566	Missense_Mutation	SNP	G	TCGA-PJ-A5Z8-01A-11D-A28G-10	1460723	35064566	27960954	66	46098											
PRDM15	63977	hgsc.bcm.edu	37	21	43241557	43241557	+	Silent	SNP	C	C	T			TCGA-PJ-A5Z8-01A-11D-A28G-10	TCGA-PJ-A5Z8-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8661bd12-fa20-4263-b1ab-034a4b225560	32a7ff68-4d91-4377-bc04-dd8688d15196	g.chr21:43241557C>T	ENST00000269844.3	-	23	3134	c.3024G>A	c.(3022-3024)ctG>ctA	p.L1008L	PRDM15_ENST00000398548.1_Silent_p.L679L|PRDM15_ENST00000538201.1_Silent_p.L662L|PRDM15_ENST00000447207.2_Silent_p.L642L|PRDM15_ENST00000422911.1_Silent_p.L699L	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	1008					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						TGATGTGCTTCAGGTACTCCT	0.612																																																0													171	113	132					21																	43241557		2203	4300	6503	SO:0001819	synonymous_variant	63977			AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"Zinc fingers, C2H2-type"	13999	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 83"	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.3024G>A	chr21.hg19:g.43241557C>T			E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Silent	SNP	ENST00000269844.3	hg19	CCDS13676.1																																																																																				0.612	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115		T	43241557	C	T	43241557	2	4	779	1	0	0	0	0	0	0	0	1	12461	813	29	2		2	PRDM15	21	43241557	Silent	SNP	C	TCGA-PJ-A5Z8-01A-11D-A28G-10		43241557	4888338	67	46099											
PLXNB2	23654	hgsc.bcm.edu	37	22	50716444	50716444	+	Splice_Site	SNP	T	T	C			TCGA-PJ-A5Z8-01A-11D-A28G-10	TCGA-PJ-A5Z8-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8661bd12-fa20-4263-b1ab-034a4b225560	32a7ff68-4d91-4377-bc04-dd8688d15196	g.chr22:50716444T>C	ENST00000449103.1	-	32	5028		c.e32-2		PLXNB2_ENST00000359337.4_Splice_Site			O15031	PLXB2_HUMAN	plexin B2						brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		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)		CAGTGTGCCCTGTGGGGGGGA	0.682																																																0													32	37	35					22																	50716444		2093	4223	6316	SO:0001630	splice_region_variant	23654				CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"Plexins"	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.4888-2A>G	chr22.hg19:g.50716444T>C			A6QRH0|Q7KZU3|Q9BSU7	Splice_Site	SNP	ENST00000449103.1	hg19	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	T	15.43	2.831563	0.50845	.	.	ENSG00000196576	ENST00000449103;ENST00000359337;ENST00000399991;ENST00000399964;ENST00000411680	.	.	.	4.08	4.08	0.47627	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4923	0.61402	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PLXNB2	49058571	1.000000	0.71417	0.983000	0.44433	0.517000	0.34286	7.524000	0.81866	1.827000	0.53221	0.402000	0.26972	.		0.682	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401	Intron	C	50716444	T	C	50716444	5	2	779	1	0	0	0	0	0	0	1	0	12126	1594	55	3	654	3	PLXNB2	22	50716444	Splice_Site	SNP	T	TCGA-PJ-A5Z8-01A-11D-A28G-10		50716444	588122	68	46100											
TEKT2	27285	hgsc.bcm.edu	37	1	36552574	36552574	+	Silent	SNP	C	C	T			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr1:36552574C>T	ENST00000207457.3	+	6	802	c.675C>T	c.(673-675)aaC>aaT	p.N225N	ADPRHL2_ENST00000373178.4_5'Flank	NM_014466.2	NP_055281.2	Q9UIF3	TEKT2_HUMAN	tektin 2 (testicular)	225					cell projection organization (GO:0030030)|inner dynein arm assembly (GO:0036159)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GTCGGTTCAACAAGGACCGAG	0.592																																																0													58	54	55					1																	36552574		2203	4300	6503	SO:0001819	synonymous_variant	27285			AB033823	CCDS401.1	1p34.3	2008-02-05			ENSG00000092850	ENSG00000092850			11725	protein-coding gene	gene with protein product		608953				12029069, 11751288	Standard	NM_014466		Approved	TEKTB1	uc001bzr.3	Q9UIF3	OTTHUMG00000007629	ENST00000207457.3:c.675C>T	chr1.hg19:g.36552574C>T			A6NIS6|O60638	Silent	SNP	ENST00000207457.3	hg19	CCDS401.1																																																																																				0.592	TEKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020200.1	NM_014466		T	36552574	C	T	36552574	2	4	780	1	0	0	0	0	0	0	0	1	15758	477	17	2		2	TEKT2	1	36552574	Silent	SNP	C	TCGA-PJ-A5Z9-01A-11D-A28G-10		36552574	212698047	1	46101											
SLC35D1	23169	hgsc.bcm.edu	37	1	67519574	67519574	+	Silent	SNP	C	C	A			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr1:67519574C>A	ENST00000235345.5	-	1	208	c.123G>T	c.(121-123)ctG>ctT	p.L41L	SLC35D1_ENST00000506472.2_5'Flank	NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	41					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						CCAGCAGCTTCAGAAACACGG	0.612																																																0													47	50	49					1																	67519574		2203	4300	6503	SO:0001819	synonymous_variant	23169			AB044343	CCDS636.1	1p32-p31	2013-07-17	2013-07-17		ENSG00000116704	ENSG00000116704		"Solute carriers"	20800	protein-coding gene	gene with protein product		610804	"solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1"			11322953	Standard	NM_015139		Approved	UGTREL7, KIAA0260	uc001ddk.2	Q9NTN3	OTTHUMG00000009360	ENST00000235345.5:c.123G>T	chr1.hg19:g.67519574C>A			A8K185|B7Z3X2|Q52LU5|Q92548	Silent	SNP	ENST00000235345.5	hg19	CCDS636.1																																																																																				0.612	SLC35D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025948.1	NM_015139		A	67519574	C	A	67519574	2	1	780	1	0	0	0	0	0	0	0	1	14587	813	29	4		4	SLC35D1	1	67519574	Silent	SNP	C	TCGA-PJ-A5Z9-01A-11D-A28G-10	30967000	67519574	181731047	2	46102											
C1orf173	127254	hgsc.bcm.edu	37	1	75037280	75037280	+	Missense_Mutation	SNP	C	C	A			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr1:75037280C>A	ENST00000326665.5	-	14	4332	c.4114G>T	c.(4114-4116)Gca>Tca	p.A1372S	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1372	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						GCTTTATTTGCTATTGTTTTC	0.522																																																0													130	133	132					1																	75037280		2203	4300	6503	SO:0001583	missense	127254																														ENST00000326665.5:c.4114G>T	chr1.hg19:g.75037280C>A	ENSP00000322609:p.Ala1372Ser		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	hg19	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	8.132	0.783370	0.16189	.	.	ENSG00000178965	ENST00000326665	T	0.14516	2.5	5.0	3.1	0.35709	.	.	.	.	.	T	0.02688	0.0081	N	0.24115	0.695	0.09310	N	1	B	0.15473	0.013	B	0.16289	0.015	T	0.45789	-0.9237	9	0.18710	T	0.47	-4.6121	10.2042	0.43103	0.0:0.7597:0.0:0.2403	.	1372	Q5RHP9	CA173_HUMAN	S	1372	ENSP00000322609:A1372S	ENSP00000322609:A1372S	A	-	1	0	C1orf173	74809868	0.148000	0.22702	0.009000	0.14445	0.260000	0.26232	0.903000	0.28475	0.528000	0.28580	-1.134000	0.01955	GCA		0.522	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			A	75037280	C	A	75037280	3	1	780	1	0	0	0	0	1	0	0	0	2016	797	28	4	482	4	C1orf173	1	75037280	Missense_Mutation	SNP	C	TCGA-PJ-A5Z9-01A-11D-A28G-10	7517706	75037280	174213341	3	46103											
ABCA4	24	hgsc.bcm.edu	37	1	94546179	94546179	+	Silent	SNP	G	G	A			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr1:94546179G>A	ENST00000370225.3	-	8	1040	c.954C>T	c.(952-954)atC>atT	p.I318I	ABCA4_ENST00000535735.1_Silent_p.I318I	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	318					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)		GGTCAGACAGGATGCCCATCA	0.542																																																0													99	91	94					1																	94546179		2203	4300	6503	SO:0001819	synonymous_variant	24			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.954C>T	chr1.hg19:g.94546179G>A			O15112|O60438|O60915|Q0QD48|Q4LE31	Silent	SNP	ENST00000370225.3	hg19	CCDS747.1																																																																																				0.542	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		A	94546179	G	A	94546179	2	1	780	1	0	0	0	0	0	0	0	1	34	1164	41	2		2	ABCA4	1	94546179	Silent	SNP	G	TCGA-PJ-A5Z9-01A-11D-A28G-10	19508899	94546179	154704442	4	46104											
SLC30A7	148867	hgsc.bcm.edu	37	1	101387350	101387350	+	Missense_Mutation	SNP	A	A	G			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr1:101387350A>G	ENST00000370112.4	+	8	982	c.795A>G	c.(793-795)atA>atG	p.I265M	SLC30A7_ENST00000357650.4_Missense_Mutation_p.I265M	NM_001144884.1|NM_133496.4	NP_001138356.1|NP_598003.2	Q8NEW0	ZNT7_HUMAN	solute carrier family 30 (zinc transporter), member 7	265					cellular protein metabolic process (GO:0044267)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|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)|vesicle (GO:0031982)	cation transmembrane transporter activity (GO:0008324)			endometrium(3)|large_intestine(2)|lung(10)	15		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)		GTCTGATGATAGCAGATCCTA	0.328																																					NSCLC(91;473 1491 3102 16827 21633)											0													166	157	160					1																	101387350		2202	4299	6501	SO:0001583	missense	148867			AF233345	CCDS776.1	1p21.1	2013-05-22			ENSG00000162695	ENSG00000162695		"Solute carriers"	19306	protein-coding gene	gene with protein product		611149				12446736	Standard	NM_133496		Approved	ZnTL2, ZNT7	uc001dto.2	Q8NEW0	OTTHUMG00000011815	ENST00000370112.4:c.795A>G	chr1.hg19:g.101387350A>G	ENSP00000359130:p.Ile265Met		B2R949|D3DT61|Q8TCH2	Missense_Mutation	SNP	ENST00000370112.4	hg19	CCDS776.1	.	.	.	.	.	.	.	.	.	.	A	18.12	3.552196	0.65311	.	.	ENSG00000162695	ENST00000370112;ENST00000357650	T;T	0.64803	-0.12;-0.12	5.62	4.46	0.54185	.	0.000000	0.85682	D	0.000000	T	0.69477	0.3115	M	0.83692	2.655	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	T	0.72232	-0.4353	10	0.48119	T	0.1	-9.0402	7.9394	0.29950	0.721:0.1427:0.0:0.1363	.	265	Q8NEW0	ZNT7_HUMAN	M	265	ENSP00000359130:I265M;ENSP00000350278:I265M	ENSP00000350278:I265M	I	+	3	3	SLC30A7	101159938	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.388000	0.34442	0.920000	0.36970	0.533000	0.62120	ATA		0.328	SLC30A7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032711.1	NM_133496		G	101387350	A	G	101387350	3	3	780	1	0	0	0	0	1	0	0	0	14566	410	15	3	825	3	SLC30A7	1	101387350	Missense_Mutation	SNP	A	TCGA-PJ-A5Z9-01A-11D-A28G-10	6841171	101387350	147863271	5	46105											
HMCN1	83872	hgsc.bcm.edu	37	1	186043967	186043967	+	Missense_Mutation	SNP	G	G	T	rs561957484		TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr1:186043967G>T	ENST00000271588.4	+	53	8463	c.8234G>T	c.(8233-8235)tGt>tTt	p.C2745F	HMCN1_ENST00000367492.2_Missense_Mutation_p.C2745F	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2745	Ig-like C2-type 25.				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						CGATATACTTGTGTAGCATCT	0.348																																																0													130	129	129					1																	186043967		2203	4300	6503	SO:0001583	missense	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.8234G>T	chr1.hg19:g.186043967G>T	ENSP00000271588:p.Cys2745Phe		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	hg19	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.610506	0.87258	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	D;D	0.89050	-2.46;-2.46	5.47	5.47	0.80525	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.97259	0.9104	H	0.99273	4.495	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.98221	1.0478	10	0.52906	T	0.07	.	19.3239	0.94253	0.0:0.0:1.0:0.0	.	2745	Q96RW7	HMCN1_HUMAN	F	2745	ENSP00000271588:C2745F;ENSP00000356462:C2745F	ENSP00000271588:C2745F	C	+	2	0	HMCN1	184310590	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	9.864000	0.99589	2.558000	0.86282	0.491000	0.48974	TGT		0.348	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		T	186043967	G	T	186043967	3	4	780	1	0	0	0	0	1	0	0	0	7222	1377	48	4	8444	4	HMCN1	1	186043967	Missense_Mutation	SNP	G	TCGA-PJ-A5Z9-01A-11D-A28G-10	84656617	186043967	63206654	6	46106											
MIA3	375056	hgsc.bcm.edu	37	1	222803477	222803477	+	Frame_Shift_Del	DEL	A	A	-			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr1:222803477delA	ENST00000344922.5	+	4	2940	c.2915delA	c.(2914-2916)gaafs	p.E972fs	MIA3_ENST00000344441.6_Frame_Shift_Del_p.E972fs|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000470521.1_3'UTR	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	972					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)		p.V974fs*4(1)		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)		TATAATATGGAAAAAGTCCTA	0.428																																																1	Insertion - Frameshift(1)	large_intestine(1)											74	72	73					1																	222803477		1967	4169	6136	SO:0001589	frameshift_variant	375056				CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"C219 reactive peptide", "transport and golgi organization"	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.2915delA	chr1.hg19:g.222803477delA	ENSP00000340900:p.Glu972fs		A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Frame_Shift_Del	DEL	ENST00000344922.5	hg19	CCDS41470.1																																																																																				0.428	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		-	222803477	A	-	222803477	7	5	780	1	0	1	0	1	0	0	0	0	9567	246	9	0	2929	0	MIA3	1	222803477	Frame_Shift_Del	DEL	A	TCGA-PJ-A5Z9-01A-11D-A28G-10	36759510	222803477	26447144	7	46107											
IRF2BP2	359948	hgsc.bcm.edu	37	1	234743060	234743060	+	Silent	SNP	G	G	A			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr1:234743060G>A	ENST00000366609.3	-	2	1617	c.1587C>T	c.(1585-1587)ttC>ttT	p.F529F	RP4-781K5.2_ENST00000436039.1_RNA|IRF2BP2_ENST00000366610.3_Silent_p.F513F|IRF2BP2_ENST00000491430.1_5'UTR	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	529	Cys-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			AAGGGAAGCAGAACTTGTGCG	0.587																																																0													81	87	85					1																	234743060		2203	4300	6503	SO:0001819	synonymous_variant	359948			AY278023	CCDS1602.1, CCDS41475.1	1q42.3	2008-02-05			ENSG00000168264	ENSG00000168264			21729	protein-coding gene	gene with protein product		615332				12799427	Standard	NM_182972		Approved	IRF-2BP2	uc001hwg.3	Q7Z5L9	OTTHUMG00000037981	ENST00000366609.3:c.1587C>T	chr1.hg19:g.234743060G>A			B1AM35|B1AM36|Q6P083|Q7Z5L8|Q8N351|Q8WUH8	Silent	SNP	ENST00000366609.3	hg19	CCDS1602.1																																																																																				0.587	IRF2BP2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000092705.1	NM_182972		A	234743060	G	A	234743060	2	1	780	1	0	0	0	0	0	0	0	1	7832	933	33	2		2	IRF2BP2	1	234743060	Silent	SNP	G	TCGA-PJ-A5Z9-01A-11D-A28G-10	11939583	234743060	14507561	8	46108											
GRB14	2888	hgsc.bcm.edu	37	2	165477654	165477654	+	Missense_Mutation	SNP	C	C	G			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr2:165477654C>G	ENST00000263915.3	-	1	704	c.166G>C	c.(166-168)Ggg>Cgg	p.G56R		NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	56					blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						CCGCGGGTCCCGTCCGGAAGG	0.771																																																0													2	3	3					2																	165477654		1387	3094	4481	SO:0001583	missense	2888				CCDS2222.1	2q22-q24	2013-02-14			ENSG00000115290	ENSG00000115290		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	4565	protein-coding gene	gene with protein product		601524				8812444	Standard	XM_005246477		Approved		uc002ucl.3	Q14449	OTTHUMG00000132135	ENST00000263915.3:c.166G>C	chr2.hg19:g.165477654C>G	ENSP00000263915:p.Gly56Arg		B7Z7F9|Q7Z6I1	Missense_Mutation	SNP	ENST00000263915.3	hg19	CCDS2222.1	.	.	.	.	.	.	.	.	.	.	C	14.78	2.638721	0.47153	.	.	ENSG00000115290	ENST00000263915	T	0.23552	1.9	3.52	3.52	0.40303	.	0.650759	0.12693	N	0.447067	T	0.14570	0.0352	N	0.08118	0	0.80722	D	1	B	0.28055	0.199	B	0.28139	0.086	T	0.10660	-1.0620	10	0.66056	D	0.02	-0.5305	10.4807	0.44691	0.0:1.0:0.0:0.0	.	56	Q14449	GRB14_HUMAN	R	56	ENSP00000263915:G56R	ENSP00000263915:G56R	G	-	1	0	GRB14	165185900	0.128000	0.22383	0.967000	0.41034	0.993000	0.82548	1.792000	0.38754	1.822000	0.53115	0.585000	0.79938	GGG		0.771	GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255180.2			G	165477654	C	G	165477654	3	3	780	1	0	0	0	0	1	0	0	0	6759	652	23	4	1512	4	GRB14	2	165477654	Missense_Mutation	SNP	C	TCGA-PJ-A5Z9-01A-11D-A28G-10		165477654	77721719	9	46109											
ATG9A	79065	hgsc.bcm.edu	37	2	220085516	220085516	+	Missense_Mutation	SNP	C	C	T			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr2:220085516C>T	ENST00000409618.1	-	15	2906	c.2467G>A	c.(2467-2469)Gtg>Atg	p.V823M	ATG9A_ENST00000396761.2_Missense_Mutation_p.V823M|ABCB6_ENST00000265316.3_5'Flank|ABCB6_ENST00000439002.2_5'Flank|ATG9A_ENST00000361242.4_Missense_Mutation_p.V823M|ATG9A_ENST00000409422.1_Missense_Mutation_p.V762M			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	823					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)		TCTTCGGGCACGGGCTCAGGG	0.607																																																0													46	47	47					2																	220085516		1899	4124	6023	SO:0001583	missense	79065			AK021732	CCDS42820.1	2q35	2014-02-12	2012-06-06	2005-09-11	ENSG00000198925	ENSG00000198925			22408	protein-coding gene	gene with protein product		612204	"APG9 autophagy 9-like 1 (S. cerevisiae)", "ATG9 autophagy related 9 homolog A (S. cerevisiae)"	APG9L1			Standard	NM_024085		Approved	FLJ22169	uc002vkf.1	Q7Z3C6	OTTHUMG00000154557	ENST00000409618.1:c.2467G>A	chr2.hg19:g.220085516C>T	ENSP00000386710:p.Val823Met		Q3ZAQ6|Q6P0N7|Q7Z317|Q7Z320|Q8NDK6|Q8WU65|Q9BVL5|Q9H6L1|Q9HAG7	Missense_Mutation	SNP	ENST00000409618.1	hg19	CCDS42820.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.071397	0.55646	.	.	ENSG00000198925	ENST00000396761;ENST00000409618;ENST00000361242;ENST00000409422	T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68	5.06	5.06	0.68205	.	0.064569	0.64402	D	0.000010	T	0.65984	0.2744	L	0.34521	1.04	0.46874	D	0.999238	D	0.58268	0.982	P	0.44732	0.459	T	0.70722	-0.4794	10	0.56958	D	0.05	-11.0302	18.6114	0.91286	0.0:1.0:0.0:0.0	.	823	Q7Z3C6	ATG9A_HUMAN	M	823;823;823;762	ENSP00000379983:V823M;ENSP00000386710:V823M;ENSP00000355173:V823M;ENSP00000386535:V762M	ENSP00000355173:V823M	V	-	1	0	ATG9A	219793760	0.997000	0.39634	0.956000	0.39512	0.708000	0.40852	3.656000	0.54467	2.627000	0.88993	0.655000	0.94253	GTG		0.607	ATG9A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335930.1	NM_024085		T	220085516	C	T	220085516	3	4	780	1	0	0	0	0	1	0	0	0	1102	536	19	1	60	1	ATG9A	2	220085516	Missense_Mutation	SNP	C	TCGA-PJ-A5Z9-01A-11D-A28G-10	54607862	220085516	23113857	10	46110											
DES	1674	hgsc.bcm.edu	37	2	220283244	220283245	+	Missense_Mutation	DNP	GG	GG	AT	rs1058253		TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr2:220283244_220283245GG>AT	ENST00000373960.3	+	1	146_147	c.60_61GG>AT	c.(58-63)ggGGcc>ggATcc	p.A21S		NM_001927.3	NP_001918.3	P17661	DESM_HUMAN	desmin	21	Head.				cytoskeleton organization (GO:0007010)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart contraction (GO:0008016)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intermediate filament (GO:0005882)|neuromuscular junction (GO:0031594)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		CCTTCGGCGGGGCCCCGGGCTT	0.733																																																0																																										SO:0001583	missense	1674			AF521879	CCDS33383.1	2q35	2014-09-17			ENSG00000175084	ENSG00000175084		"Intermediate filaments type III"	2770	protein-coding gene	gene with protein product	"intermediate filament protein"	125660				2673923, 9736733	Standard	NM_001927		Approved	CMD1I, CSM1, CSM2	uc002vll.3	P17661	OTTHUMG00000058924	Exception_encountered	chr2.hg19:g.220283244_220283245delinsAT	ENSP00000363071:p.Ala21Ser		Q15787|Q549R7|Q549R8|Q549R9|Q8IZR1|Q8IZR6|Q8NES2|Q8NEU6|Q8TAC4|Q8TCX2|Q8TD99|Q9UHN5|Q9UJ80	Silent|Missense_Mutation	SNP	ENST00000373960.3	hg19	CCDS33383.1																																																																																				0.733	DES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130240.1	NM_001927		AT	220283245	GG	AT	220283244	3	1	780	1	0	0	0	0	1	0	0	0	4451	1219	43	2	62	2	DES	2	220283244	Missense_Mutation	DNP	GG	TCGA-PJ-A5Z9-01A-11D-A28G-10	197728	220283244	22916129	11	46111											
SETD2	29072	hgsc.bcm.edu	37	3	47164505	47164505	+	Silent	SNP	G	G	T			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr3:47164505G>T	ENST00000409792.3	-	3	1663	c.1621C>A	c.(1621-1623)Cga>Aga	p.R541R		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	541					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)		GATGACCCTCGTCGGAATCCC	0.358			"N, F, S, Mis"		clear cell renal carcinoma																																		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0													100	100	100					3																	47164505		2200	4292	6492	SO:0001819	synonymous_variant	29072			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.1621C>A	chr3.hg19:g.47164505G>T			O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Silent	SNP	ENST00000409792.3	hg19	CCDS2749.2																																																																																				0.358	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		T	47164505	G	T	47164505	2	4	780	1	0	0	0	0	0	0	0	1	14137	1153	40	4		4	SETD2	3	47164505	Silent	SNP	G	TCGA-PJ-A5Z9-01A-11D-A28G-10		47164505	150857925	12	46112											
GMPPB	29925	hgsc.bcm.edu	37	3	49759370	49759370	+	Intron	SNP	C	C	T	rs71324991		TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr3:49759370C>T	ENST00000480687.1	-	9	1068				GMPPB_ENST00000308375.6_Missense_Mutation_p.E327K|AMIGO3_ENST00000535833.1_Intron|AMIGO3_ENST00000320431.7_5'Flank|GMPPB_ENST00000308388.6_Intron			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B						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)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|mannose-1-phosphate guanylyltransferase activity (GO:0004475)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCGCCCCTCTCCCCACCCAGC	0.632																																																0													52	52	52					3																	49759370		2203	4300	6503	SO:0001627	intron_variant	29925			AF135421	CCDS2802.1, CCDS2803.1	3p21.31	2008-02-05			ENSG00000173540	ENSG00000173540	2.7.7.22		22932	protein-coding gene	gene with protein product		615320					Standard	NM_013334		Approved	KIAA1851	uc003cxl.1	Q9Y5P6	OTTHUMG00000158151	ENST00000480687.1:c.951+27G>A	chr3.hg19:g.49759370C>T			A8K6N5|Q9H7U3	Missense_Mutation	SNP	ENST00000480687.1	hg19	CCDS2803.1	.	.	.	.	.	.	.	.	.	.	C	4.938	0.174300	0.09391	.	.	ENSG00000173540	ENST00000308375	T	0.72942	-0.7	4.7	1.73	0.24493	.	1.157320	0.06701	N	0.771475	T	0.53722	0.1814	.	.	.	0.32702	N	0.512756	B	0.02656	0.0	B	0.01281	0.0	T	0.51988	-0.8635	9	0.24483	T	0.36	-2.0563	5.6606	0.17667	0.0:0.442:0.3934:0.1645	.	327	Q9Y5P6-2	.	K	327	ENSP00000309092:E327K	ENSP00000309092:E327K	E	-	1	0	GMPPB	49734374	0.000000	0.05858	0.023000	0.16930	0.167000	0.22549	-0.551000	0.06027	0.524000	0.28502	0.655000	0.94253	GAG		0.632	GMPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350291.1	NM_013334		T	49759370	C	T	49759370	1	4	780	0	1	0	0	0	0	0	0	0	6497	864	30	2		2	GMPPB	3	49759370	Intron	SNP	C	TCGA-PJ-A5Z9-01A-11D-A28G-10	2594865	49759370	148263060	13	46113											
UBA7	7318	hgsc.bcm.edu	37	3	49847782	49847782	+	Missense_Mutation	SNP	A	A	T			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr3:49847782A>T	ENST00000333486.3	-	13	1705	c.1547T>A	c.(1546-1548)cTg>cAg	p.L516Q	UBA7_ENST00000494212.1_5'Flank	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	516	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)		GGTGGGATCCAGTGGGTAGGT	0.587																																																0													102	104	103					3																	49847782		2203	4300	6503	SO:0001583	missense	7318			BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"Ubiquitin-like modifier activating enzymes"	12471	protein-coding gene	gene with protein product	"UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)", "UBA7, ubiquitin-activating enzyme E1"	191325	"ubiquitin-activating enzyme E1-like"	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267	ENST00000333486.3:c.1547T>A	chr3.hg19:g.49847782A>T	ENSP00000333266:p.Leu516Gln		Q9BRB2	Missense_Mutation	SNP	ENST00000333486.3	hg19	CCDS2805.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.249400	0.80024	.	.	ENSG00000182179	ENST00000333486	T	0.67345	-0.26	5.67	5.67	0.87782	UBA/THIF-type NAD/FAD binding fold (1);Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.331674	0.29631	N	0.011601	D	0.86180	0.5871	M	0.93854	3.465	0.52501	D	0.999951	D	0.76494	0.999	D	0.74674	0.984	D	0.89830	0.3995	10	0.87932	D	0	-8.7204	15.9043	0.79412	1.0:0.0:0.0:0.0	.	516	P41226	UBA7_HUMAN	Q	516	ENSP00000333266:L516Q	ENSP00000333266:L516Q	L	-	2	0	UBA7	49822786	1.000000	0.71417	0.352000	0.25734	0.711000	0.40976	8.947000	0.93000	2.169000	0.68431	0.459000	0.35465	CTG		0.587	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350503.1	NM_003335		T	49847782	A	T	49847782	3	4	780	1	0	0	0	0	1	0	0	0	16838	188	7	5	1539	5	UBA7	3	49847782	Missense_Mutation	SNP	A	TCGA-PJ-A5Z9-01A-11D-A28G-10	88412	49847782	148174648	14	46114											
IGF2BP2	10644	hgsc.bcm.edu	37	3	185542743	185542743	+	Missense_Mutation	SNP	C	C	G			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr3:185542743C>G	ENST00000382199.2	-	1	101	c.6G>C	c.(4-6)atG>atC	p.M2I	IGF2BP2_ENST00000346192.3_Missense_Mutation_p.M2I|IGF2BP2_ENST00000457616.2_Missense_Mutation_p.M2I	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	2					anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			AAAGCTTGTTCATCATCCGTC	0.706																																																0													22	24	24					3																	185542743		2202	4300	6502	SO:0001583	missense	10644			BC021290	CCDS3273.2, CCDS33903.1	3q27.2	2013-02-12			ENSG00000073792	ENSG00000073792		"RNA binding motif (RRM) containing"	28867	protein-coding gene	gene with protein product	"IGF II mRNA binding protein 2"	608289				10190901, 9891060	Standard	NM_001007225		Approved	IMP-2	uc003fpo.3	Q9Y6M1	OTTHUMG00000074025	ENST00000382199.2:c.6G>C	chr3.hg19:g.185542743C>G	ENSP00000371634:p.Met2Ile		A0A4Z0|B3FTN2|B3FTN3|B3FTN4	Missense_Mutation	SNP	ENST00000382199.2	hg19	CCDS3273.2	.	.	.	.	.	.	.	.	.	.	C	25.2	4.612112	0.87258	.	.	ENSG00000073792	ENST00000382199;ENST00000457616;ENST00000346192	T;T;T	0.20332	2.11;2.31;2.08	2.43	2.43	0.29744	.	0.000000	0.64402	U	0.000001	T	0.47358	0.1441	M	0.85197	2.74	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.77557	0.978;0.99;0.965	T	0.56914	-0.7900	10	0.87932	D	0	-7.2297	11.9545	0.52974	0.0:1.0:0.0:0.0	.	2;2;2	F8W930;Q9Y6M1-1;Q9Y6M1	.;.;IF2B2_HUMAN	I	2	ENSP00000371634:M2I;ENSP00000410242:M2I;ENSP00000320204:M2I	ENSP00000320204:M2I	M	-	3	0	IGF2BP2	187025437	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.717000	0.74707	1.354000	0.45846	0.393000	0.25936	ATG		0.706	IGF2BP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157087.2	NM_006548		G	185542743	C	G	185542743	3	3	780	1	0	0	0	0	1	0	0	0	7576	826	29	4	1857	4	IGF2BP2	3	185542743	Missense_Mutation	SNP	C	TCGA-PJ-A5Z9-01A-11D-A28G-10	135694961	185542743	12479687	15	46115											
NKX3-2	579	hgsc.bcm.edu	37	4	13545664	13545664	+	Silent	SNP	G	G	A			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr4:13545664G>A	ENST00000382438.5	-	1	1010	c.375C>T	c.(373-375)ctC>ctT	p.L125L	AC006445.8_ENST00000501050.1_lincRNA	NM_001189.3	NP_001180.1	P78367	NKX32_HUMAN	NK3 homeobox 2	125					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						CCGGCTGGCCGAGGCTCAAGG	0.721																																																0													3	4	4					4																	13545664		1713	3631	5344	SO:0001819	synonymous_variant	579			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.375C>T	chr4.hg19:g.13545664G>A			Q2M2I7	Silent	SNP	ENST00000382438.5	hg19	CCDS3410.1																																																																																				0.721	NKX3-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207317.3			A	13545664	G	A	13545664	2	1	780	1	0	0	0	0	0	0	0	1	10458	1045	37	1		1	NKX3-2	4	13545664	Silent	SNP	G	TCGA-PJ-A5Z9-01A-11D-A28G-10		13545664	177608612	16	46116											
NIPAL1	152519	hgsc.bcm.edu	37	4	48037862	48037862	+	Silent	SNP	T	T	C			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr4:48037862T>C	ENST00000295461.5	+	6	972	c.906T>C	c.(904-906)aaT>aaC	p.N302N		NM_207330.1	NP_997213.1	Q6NVV3	NIPA3_HUMAN	NIPA-like domain containing 1	302						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						ACACCTTTAATACCTCTCTTG	0.423																																																0													138	122	127					4																	48037862		2203	4300	6503	SO:0001819	synonymous_variant	152519			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.906T>C	chr4.hg19:g.48037862T>C			B3KTB0|Q68DA9	Silent	SNP	ENST00000295461.5	hg19	CCDS3479.1																																																																																				0.423	NIPAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250491.4	NM_207330		C	48037862	T	C	48037862	2	2	780	1	0	0	0	0	0	0	0	1	10426	1403	49	3		3	NIPAL1	4	48037862	Silent	SNP	T	TCGA-PJ-A5Z9-01A-11D-A28G-10	34492198	48037862	143116414	17	46117											
MAP3K1	4214	hgsc.bcm.edu	37	5	56170960	56170960	+	Silent	SNP	G	G	T			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr5:56170960G>T	ENST00000399503.3	+	10	1788	c.1788G>T	c.(1786-1788)ctG>ctT	p.L596L		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	596					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		GGGCCCTGCTGTTGGCAAATG	0.552																																																0													88	87	87					5																	56170960		1908	4114	6022	SO:0001819	synonymous_variant	4214			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6848	protein-coding gene	gene with protein product		600982	"mitogen-activated protein kinase kinase kinase 1"	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.1788G>T	chr5.hg19:g.56170960G>T				Silent	SNP	ENST00000399503.3	hg19	CCDS43318.1																																																																																				0.552	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066		T	56170960	G	T	56170960	2	4	780	1	0	0	0	0	0	0	0	1	9245	1364	48	4		4	MAP3K1	5	56170960	Silent	SNP	G	TCGA-PJ-A5Z9-01A-11D-A28G-10		56170960	124744300	18	46118											
MSH3	4437	hgsc.bcm.edu	37	5	79970928	79970928	+	Missense_Mutation	SNP	A	A	T			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr5:79970928A>T	ENST00000265081.6	+	7	1234	c.1154A>T	c.(1153-1155)aAc>aTc	p.N385I		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	385					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		AAAAAGGGCAACATTTTTATT	0.333								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)											0													148	152	151					5																	79970928		2203	4300	6503	SO:0001583	missense	4437			U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"Divergent upstream protein", "Mismatch repair protein 1"	600887	"mutS (E. coli) homolog 3", "mutS homolog 3 (E. coli)"				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.1154A>T	chr5.hg19:g.79970928A>T	ENSP00000265081:p.Asn385Ile		A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Missense_Mutation	SNP	ENST00000265081.6	hg19	CCDS34195.1	.	.	.	.	.	.	.	.	.	.	A	8.987	0.976749	0.18812	.	.	ENSG00000113318	ENST00000265081;ENST00000535995	D	0.88664	-2.41	5.6	-5.6	0.02497	DNA mismatch repair protein MutS, connector (2);	0.642828	0.16451	N	0.213870	T	0.79405	0.4440	L	0.53249	1.67	0.09310	N	1	B	0.33318	0.408	B	0.34138	0.176	T	0.67783	-0.5581	9	.	.	.	-1.1852	2.0942	0.03664	0.3478:0.3369:0.2064:0.1089	.	385	P20585	MSH3_HUMAN	I	385;376	ENSP00000265081:N385I	.	N	+	2	0	MSH3	80006684	0.010000	0.17322	0.000000	0.03702	0.294000	0.27393	0.093000	0.15086	-0.822000	0.04306	-0.367000	0.07326	AAC		0.333	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439		T	79970928	A	T	79970928	3	4	780	1	0	0	0	0	1	0	0	0	9873	43	2	5	1180	5	MSH3	5	79970928	Missense_Mutation	SNP	A	TCGA-PJ-A5Z9-01A-11D-A28G-10	23799968	79970928	100944332	19	46119											
KDM3B	51780	hgsc.bcm.edu	37	5	137717257	137717257	+	Missense_Mutation	SNP	A	A	C			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr5:137717257A>C	ENST00000314358.5	+	6	958	c.758A>C	c.(757-759)gAt>gCt	p.D253A		NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	253					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						ATGCTGATGGATAATTCAGCG	0.433																																																0													134	117	123					5																	137717257		2203	4300	6503	SO:0001583	missense	51780			AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"Chromatin-modifying enzymes / K-demethylases"	1337	protein-coding gene	gene with protein product		609373	"chromosome 5 open reading frame 7", "jumonji domain containing 1B"	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.758A>C	chr5.hg19:g.137717257A>C	ENSP00000326563:p.Asp253Ala		A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	ENST00000314358.5	hg19	CCDS34242.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.253034	0.80135	.	.	ENSG00000120733	ENST00000314358;ENST00000545151	T	0.68025	-0.3	4.79	4.79	0.61399	.	0.104922	0.64402	D	0.000006	T	0.70876	0.3274	N	0.24115	0.695	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	T	0.75357	-0.3346	10	0.72032	D	0.01	-8.6271	14.278	0.66194	1.0:0.0:0.0:0.0	.	253	Q7LBC6	KDM3B_HUMAN	A	253;43	ENSP00000326563:D253A	ENSP00000326563:D253A	D	+	2	0	KDM3B	137745156	1.000000	0.71417	0.996000	0.52242	0.876000	0.50452	6.004000	0.70709	1.905000	0.55150	0.460000	0.39030	GAT		0.433	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604		C	137717257	A	C	137717257	3	2	780	1	0	0	0	0	1	0	0	0	8129	333	12	5	780	5	KDM3B	5	137717257	Missense_Mutation	SNP	A	TCGA-PJ-A5Z9-01A-11D-A28G-10	57746329	137717257	43198003	20	46120											
CASP8AP2	9994	hgsc.bcm.edu	37	6	90573643	90573643	+	RNA	SNP	T	T	C			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr6:90573643T>C	ENST00000551025.1	+	0	3652									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)		TAATTCAGATTATTGTGGTAT	0.403																																					Colon(187;1656 2025 17045 31481 39901)											0													69	67	67					6																	90573643		1866	4106	5972			9994			AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"FLICE-associated huge protein"	606880	"CASP8 associated protein 2"			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		chr6.hg19:g.90573643T>C				Missense_Mutation	SNP	ENST00000551025.1	hg19																																																																																					0.403	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		NM_001137667		C	90573643	T	C	90573643	1	2	780	0	1	0	0	0	0	0	0	0	2680	1754	61	3		3	CASP8AP2	6	90573643	RNA	SNP	T	TCGA-PJ-A5Z9-01A-11D-A28G-10		90573643	80541424	21	46121											
REPS1	85021	hgsc.bcm.edu	37	6	139262487	139262487	+	Missense_Mutation	SNP	A	A	T			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr6:139262487A>T	ENST00000450536.2	-	8	1694	c.1120T>A	c.(1120-1122)Ttg>Atg	p.L374M	REPS1_ENST00000415951.2_Missense_Mutation_p.L374M|REPS1_ENST00000409812.2_Missense_Mutation_p.L374M|REPS1_ENST00000367663.4_Missense_Mutation_p.L374M|REPS1_ENST00000258062.5_Missense_Mutation_p.L374M			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	374	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)		GAATCTTCCAAATCAATCAGT	0.388																																																0													167	170	169					6																	139262487		2203	4300	6503	SO:0001583	missense	85021				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.1120T>A	chr6.hg19:g.139262487A>T	ENSP00000392065:p.Leu374Met		B7ZBZ8|B7ZBZ9|B7ZC00|J3KP76|Q5JWJ5|Q5JWJ6|Q5JWJ7|Q8NDR7|Q8WU62|Q9BXY9	Missense_Mutation	SNP	ENST00000450536.2	hg19		.	.	.	.	.	.	.	.	.	.	A	18.47	3.630297	0.67015	.	.	ENSG00000135597	ENST00000450536;ENST00000367663;ENST00000529597;ENST00000409812;ENST00000258062;ENST00000415951;ENST00000367668	T;T;T;T;T;T	0.35789	1.31;1.35;1.33;1.34;1.29;1.36	5.91	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.23014	0.0556	N	0.08118	0	0.80722	D	1	D;D;D;P;P	0.89917	1.0;1.0;1.0;0.82;0.872	D;D;D;P;B	0.80764	0.992;0.981;0.994;0.451;0.393	T	0.23904	-1.0175	10	0.45353	T	0.12	-6.2792	8.9289	0.35657	0.8584:0.0:0.1416:0.0	.	374;322;374;374;374	Q96D71-3;B2R7D3;Q96D71-2;Q96D71;E9PMG1	.;.;.;REPS1_HUMAN;.	M	374;374;360;374;374;374;322	ENSP00000392065:L374M;ENSP00000356635:L374M;ENSP00000434251:L360M;ENSP00000386699:L374M;ENSP00000258062:L374M;ENSP00000397941:L374M	ENSP00000258062:L374M	L	-	1	2	REPS1	139304180	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.783000	0.47766	1.074000	0.40909	0.533000	0.62120	TTG		0.388	REPS1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000042447.3			T	139262487	A	T	139262487	3	4	780	1	0	0	0	0	1	0	0	0	13234	11	1	5	1322	5	REPS1	6	139262487	Missense_Mutation	SNP	A	TCGA-PJ-A5Z9-01A-11D-A28G-10	48688844	139262487	31852580	22	46122											
PDE1C	5137	hgsc.bcm.edu	37	7	31862809	31862809	+	Missense_Mutation	SNP	C	C	A			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr7:31862809C>A	ENST00000396191.1	-	14	1915	c.1460G>T	c.(1459-1461)gGt>gTt	p.G487V	PDE1C_ENST00000396193.1_Missense_Mutation_p.G547V|PDE1C_ENST00000321453.7_Missense_Mutation_p.G487V|PDE1C_ENST00000396184.3_Missense_Mutation_p.G487V|PDE1C_ENST00000479980.1_5'Flank|PDE1C_ENST00000396182.2_Missense_Mutation_p.G487V	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	487	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	TCCCTCTGAACCAGAGGTCTT	0.443																																																0													107	96	100					7																	31862809		2203	4300	6503	SO:0001583	missense	5137			U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"Phosphodiesterases"	8776	protein-coding gene	gene with protein product		602987	"phosphodiesterase 1C, calmodulin-dependent (70kD)"			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.1460G>T	chr7.hg19:g.31862809C>A	ENSP00000379494:p.Gly487Val		B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	SNP	ENST00000396191.1	hg19	CCDS55099.1	.	.	.	.	.	.	.	.	.	.	C	17.54	3.415990	0.62511	.	.	ENSG00000154678	ENST00000396193;ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182	T;T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.63;-0.63	5.91	5.91	0.95273	.	0.634852	0.16753	N	0.200964	T	0.76730	0.4028	L	0.29908	0.895	0.80722	D	1	B;B;D	0.65815	0.081;0.23;0.995	B;B;P	0.60949	0.056;0.082;0.881	T	0.76537	-0.2923	10	0.54805	T	0.06	.	19.9003	0.96983	0.0:1.0:0.0:0.0	.	487;547;487	Q14123-2;E9PE92;Q14123	.;.;PDE1C_HUMAN	V	547;487;487;487;487	ENSP00000379496:G547V;ENSP00000379494:G487V;ENSP00000318105:G487V;ENSP00000379487:G487V;ENSP00000379485:G487V	ENSP00000318105:G487V	G	-	2	0	PDE1C	31829334	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.060000	0.76692	2.808000	0.96608	0.655000	0.94253	GGT		0.443	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1			A	31862809	C	A	31862809	3	1	780	1	0	0	0	0	1	0	0	0	11637	507	18	4	460	4	PDE1C	7	31862809	Missense_Mutation	SNP	C	TCGA-PJ-A5Z9-01A-11D-A28G-10		31862809	127275854	23	46123											
CSMD1	64478	hgsc.bcm.edu	37	8	2824167	2824167	+	Missense_Mutation	SNP	A	A	G			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr8:2824167A>G	ENST00000520002.1	-	59	9583	c.9028T>C	c.(9028-9030)Tac>Cac	p.Y3010H	CSMD1_ENST00000602557.1_Missense_Mutation_p.Y3010H|CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000537824.1_Missense_Mutation_p.Y3009H|CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000542608.1_Intron			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3010	Sushi 23. {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)		GAGGTCTTGTAGCCTTCCCAG	0.547																																																0													72	76	75					8																	2824167		2071	4221	6292	SO:0001583	missense	64478					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.9028T>C	chr8.hg19:g.2824167A>G	ENSP00000430733:p.Tyr3010His		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.86|18.86	3.714217|3.714217	0.68730|0.68730	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000520002;ENST00000318252;ENST00000537824	.|T;T	.|0.40756	.|1.02;1.02	5.46|5.46	5.46|5.46	0.80206|0.80206	.|Complement control module (2);Sushi/SCR/CCP (3);	.|0.079141	.|0.53938	.|D	.|0.000060	T|T	0.69495|0.69495	0.3117|0.3117	M|M	0.87827|0.87827	2.91|2.91	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.999;0.999	.|D;D	.|0.83275	.|0.996;0.992	T|T	0.76113|0.76113	-0.3078|-0.3078	5|10	.|0.87932	.|D	.|0	.|.	15.5456|15.5456	0.76097|0.76097	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|3010;3010	.|E5RIG2;Q96PZ7	.|.;CSMD1_HUMAN	P|H	2426|3010;2871;3009	.|ENSP00000430733:Y3010H;ENSP00000441462:Y3009H	.|ENSP00000320445:Y2871H	L|Y	-|-	2|1	0|0	CSMD1|CSMD1	2811574|2811574	1.000000|1.000000	0.71417|0.71417	0.807000|0.807000	0.32361|0.32361	0.329000|0.329000	0.28539|0.28539	9.116000|9.116000	0.94341|0.94341	2.068000|2.068000	0.61886|0.61886	0.533000|0.533000	0.62120|0.62120	CTA|TAC		0.547	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		G	2824167	A	G	2824167	3	3	780	1	0	0	0	0	1	0	0	0	3946	420	15	3	1721	3	CSMD1	8	2824167	Missense_Mutation	SNP	A	TCGA-PJ-A5Z9-01A-11D-A28G-10		2824167	143539855	24	46124											
NEFL	4747	hgsc.bcm.edu	37	8	24813800	24813800	+	RNA	SNP	G	G	A			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr8:24813800G>A	ENST00000221169.5	-	0	824				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)		GCTGATGGCGGCTACCTGGCT	0.637																																																0													30	33	32					8																	24813800		2172	4272	6444			4747				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		chr8.hg19:g.24813800G>A			B9ZVN2|Q16154|Q8IU72	Missense_Mutation	SNP	ENST00000221169.5	hg19																																																																																					0.637	NEFL-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000258943.4	NM_006158		A	24813800	G	A	24813800	1	1	780	0	1	0	0	0	0	0	0	0	10317	1203	42	2		2	NEFL	8	24813800	RNA	SNP	G	TCGA-PJ-A5Z9-01A-11D-A28G-10	21989633	24813800	121550222	25	46125											
MATN2	4147	hgsc.bcm.edu	37	8	99039960	99039960	+	Missense_Mutation	SNP	G	G	T			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr8:99039960G>T	ENST00000520016.1	+	13	2383	c.2259G>T	c.(2257-2259)agG>agT	p.R753S	MATN2_ENST00000524308.1_Missense_Mutation_p.R712S|MATN2_ENST00000522025.2_Missense_Mutation_p.R469S|MATN2_ENST00000521689.1_Missense_Mutation_p.R753S|RPL30_ENST00000518164.1_Intron|MATN2_ENST00000254898.5_Missense_Mutation_p.R753S			O00339	MATN2_HUMAN	matrilin 2	753	VWFA 2. {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)			AAGGGGCCAGGCCCCTTTCCA	0.562																																																0													41	42	42					8																	99039960		1887	4109	5996	SO:0001583	missense	4147			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.2259G>T	chr8.hg19:g.99039960G>T	ENSP00000430487:p.Arg753Ser		A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Missense_Mutation	SNP	ENST00000520016.1	hg19	CCDS55264.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	18.65|18.65|18.65	3.670245|3.670245|3.670245	0.67814|0.67814|0.67814	.|.|.	.|.|.	ENSG00000132561|ENSG00000132561|ENSG00000132561	ENST00000518154|ENST00000519582|ENST00000521689;ENST00000254898;ENST00000378716;ENST00000524308;ENST00000522025;ENST00000520016	.|.|D;D;D;D;D	.|.|0.87571	.|.|-2.27;-2.27;-2.27;-2.27;-2.27	5.24|5.24|5.24	4.34|4.34|4.34	0.51931|0.51931|0.51931	.|.|von Willebrand factor, type A (3);	.|.|0.000000	.|.|0.64402	.|.|D	.|.|0.000002	D|D|D	0.94548|0.94548|0.94548	0.8244|0.8244|0.8244	H|H|H	0.95187|0.95187|0.95187	3.635|3.635|3.635	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|D;D;D	.|.|0.89917	.|.|1.0;1.0;1.0	.|.|D;D;D	.|.|0.91635	.|.|0.999;0.999;0.999	D|D|D	0.94271|0.94271|0.94271	0.7511|0.7511|0.7511	5|5|10	.|.|0.87932	.|.|D	.|.|0	-23.5915|-23.5915|-23.5915	8.2515|8.2515|8.2515	0.31724|0.31724|0.31724	0.2672:0.0:0.7328:0.0|0.2672:0.0:0.7328:0.0|0.2672:0.0:0.7328:0.0	.|.|.	.|.|753;753;753	.|.|E9PF03;O00339-2;O00339	.|.|.;.;MATN2_HUMAN	S|V|S	536|9|753;753;712;712;469;753	.|.|ENSP00000429977:R753S;ENSP00000254898:R753S;ENSP00000430221:R712S;ENSP00000429010:R469S;ENSP00000430487:R753S	.|.|ENSP00000254898:R753S	A|G|R	+|+|+	1|2|3	0|0|2	MATN2|MATN2|MATN2	99109136|99109136|99109136	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.934000|0.934000|0.934000	0.57294|0.57294|0.57294	3.500000|3.500000|3.500000	0.53318|0.53318|0.53318	1.272000|1.272000|1.272000	0.44329|0.44329|0.44329	0.555000|0.555000|0.555000	0.69702|0.69702|0.69702	GCC|GGC|AGG		0.562	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380332.1			T	99039960	G	T	99039960	3	4	780	1	0	0	0	0	1	0	0	0	9336	1194	42	4	2309	4	MATN2	8	99039960	Missense_Mutation	SNP	G	TCGA-PJ-A5Z9-01A-11D-A28G-10	74226160	99039960	47324062	26	46126											
PLEC	5339	hgsc.bcm.edu	37	8	145024821	145024825	+	Frame_Shift_Del	DEL	CACCT	CACCT	-			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10	CACCT	CACCT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr8:145024821_145024825delCACCT	ENST00000322810.4	-	1	219_223	c.50_54delAGGTG	c.(49-54)gaggtgfs	p.EV17fs	PLEC_ENST00000436759.2_Intron|PLEC_ENST00000527096.1_Intron|PLEC_ENST00000356346.3_Intron|PLEC_ENST00000354958.2_Intron	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	17	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGCGGAAGAGCACCTCATAGATGGC	0.683																																																0																																										SO:0001589	frameshift_variant	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.50_54delAGGTG	chr8.hg19:g.145024821_145024825delCACCT	ENSP00000323856:p.Glu17fs		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Frame_Shift_Del	DEL	ENST00000322810.4	hg19	CCDS43772.1																																																																																				0.683	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		-	145024825	CACCT	-	145024821	7	5	780	1	0	1	0	1	0	0	0	0	12054	697	25	0	14508	0	PLEC	8	145024821	Frame_Shift_Del	DEL	CACCT	TCGA-PJ-A5Z9-01A-11D-A28G-10	45984861	145024821	1339201	27	46127											
KIAA1797	54914	hgsc.bcm.edu	37	9	20988333	20988333	+	Missense_Mutation	SNP	G	G	A			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr9:20988333G>A	ENST00000380249.1	+	43	5273	c.4909G>A	c.(4909-4911)Gtt>Att	p.V1637I	FOCAD_ENST00000338382.6_Missense_Mutation_p.V1637I|FOCAD_ENST00000605086.1_Missense_Mutation_p.V1073I	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	1637						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											CATTTCAGGCGTTTTGAAGAG	0.378																																																0													144	133	137					9																	20988333		2203	4300	6503	SO:0001583	missense	54914			AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"KIAA1797"	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.4909G>A	chr9.hg19:g.20988333G>A	ENSP00000369599:p.Val1637Ile		D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	ENST00000380249.1	hg19	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.415680	0.62511	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.22945	1.93;1.93	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.52597	0.1744	M	0.72118	2.19	0.80722	D	1	D	0.76494	0.999	D	0.67382	0.951	T	0.36383	-0.9750	10	0.45353	T	0.12	-28.3855	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1637	Q5VW36	K1797_HUMAN	I	1637	ENSP00000369599:V1637I;ENSP00000344307:V1637I	ENSP00000344307:V1637I	V	+	1	0	KIAA1797	20978333	1.000000	0.71417	0.317000	0.25265	0.044000	0.14063	5.911000	0.69939	2.941000	0.99782	0.655000	0.94253	GTT		0.378	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794		A	20988333	G	A	20988333	3	1	780	1	0	0	0	0	1	0	0	0	8260	1145	40	1	5067	1	KIAA1797	9	20988333	Missense_Mutation	SNP	G	TCGA-PJ-A5Z9-01A-11D-A28G-10		20988333	120225098	28	46128											
TOPORS	10210	hgsc.bcm.edu	37	9	32541932	32541932	+	Missense_Mutation	SNP	C	C	T			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr9:32541932C>T	ENST00000360538.2	-	3	2707	c.2591G>A	c.(2590-2592)aGc>aAc	p.S864N	TOPORS_ENST00000379858.1_Missense_Mutation_p.S799N	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	864	Interaction with TOP1.|Interaction with UBE2I.|Lys-rich.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		TACACTTAGGCTCCGGGTCTT	0.358																																																0													203	207	205					9																	32541932		2203	4300	6503	SO:0001583	missense	10210			AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"RING-type (C3HC4) zinc fingers"	21653	protein-coding gene	gene with protein product		609507	"retinitis pigmentosa 31 (autosomal dominant)", "topoisomerase I binding, arginine/serine-rich"	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.2591G>A	chr9.hg19:g.32541932C>T	ENSP00000353735:p.Ser864Asn		O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	ENST00000360538.2	hg19	CCDS6527.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.202662	0.58234	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.34072	1.38;1.44	5.91	5.91	0.95273	.	0.000000	0.64402	D	0.000011	T	0.52468	0.1736	L	0.32530	0.975	0.39310	D	0.965069	D	0.89917	1.0	D	0.83275	0.996	T	0.53982	-0.8361	10	0.87932	D	0	-9.414	19.0572	0.93070	0.0:1.0:0.0:0.0	.	864	Q9NS56	TOPRS_HUMAN	N	864;799	ENSP00000353735:S864N;ENSP00000369187:S799N	ENSP00000353735:S864N	S	-	2	0	TOPORS	32531932	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.479000	0.60236	2.803000	0.96430	0.650000	0.86243	AGC		0.358	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802		T	32541932	C	T	32541932	3	4	780	1	0	0	0	0	1	0	0	0	16375	797	28	2	550	2	TOPORS	9	32541932	Missense_Mutation	SNP	C	TCGA-PJ-A5Z9-01A-11D-A28G-10	11553599	32541932	108671499	29	46129											
FCN2	2220	hgsc.bcm.edu	37	9	137777085	137777085	+	Splice_Site	SNP	G	G	T	rs529779645	byFrequency	TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr9:137777085G>T	ENST00000291744.6	+	5	312	c.302G>T	c.(301-303)gGc>gTc	p.G101V	FCN2_ENST00000350339.2_Splice_Site_p.G63V	NM_004108.2	NP_004099.2	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	101	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|opsonization (GO:0008228)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		CCCTTCCCAGGCCCGCGTACC	0.667																																																0													53	52	52					9																	137777085		2203	4300	6503	SO:0001630	splice_region_variant	2220			D49353	CCDS6983.1	9q34	2013-09-12	2013-09-12		ENSG00000160339	ENSG00000160339		"Fibrinogen C domain containing"	3624	protein-coding gene	gene with protein product	"hucolin", "collagen/fibrinogen domain-containing protein 2", "ficolin B", "serum lectin p35", "L-ficolin"	601624	"ficolin (collagen/fibrinogen domain-containing lectin) 2 (hucolin)"			8884275	Standard	XM_006717015		Approved	P35, FCNL, EBP-37, ficolin-2	uc004cfg.1	Q15485	OTTHUMG00000020892	ENST00000291744.6:c.302-1G>T	chr9.hg19:g.137777085G>T			A6NFG7|A8K478|Q6IS69|Q7M4P4|Q9UC57	Missense_Mutation	SNP	ENST00000291744.6	hg19	CCDS6983.1	.	.	.	.	.	.	.	.	.	.	G	6.759	0.508916	0.12883	.	.	ENSG00000160339	ENST00000350339;ENST00000291744	T;T	0.19394	2.15;2.15	3.59	2.66	0.31614	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (3);	.	.	.	.	T	0.40815	0.1132	M	0.89353	3.025	0.30440	N	0.776243	P;P	0.49696	0.927;0.763	P;P	0.51701	0.462;0.677	T	0.48258	-0.9051	8	.	.	.	.	9.7179	0.40284	0.0:0.4147:0.5853:0.0	.	63;101	Q15485-2;Q15485	.;FCN2_HUMAN	V	63;101	ENSP00000291741:G63V;ENSP00000291744:G101V	.	G	+	2	0	FCN2	136916906	0.229000	0.23729	0.063000	0.19743	0.018000	0.09664	0.409000	0.21082	0.444000	0.26612	0.462000	0.41574	GGC		0.667	FCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054960.1	NM_004108	Missense_Mutation	T	137777085	G	T	137777085	5	4	780	1	0	0	0	0	0	0	1	0	5794	1217	42	4	320	4	FCN2	9	137777085	Splice_Site	SNP	G	TCGA-PJ-A5Z9-01A-11D-A28G-10	105235153	137777085	3436346	30	46130											
KCNT1	402381	hgsc.bcm.edu	37	9	138594140	138594140	+	5'Flank	SNP	C	C	G			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr9:138594140C>G	ENST00000298466.5	-	0	0				KCNT1_ENST00000371757.2_Silent_p.G12G|SOHLH1_ENST00000425225.1_5'Flank|KCNT1_ENST00000487664.1_Silent_p.G12G|KCNT1_ENST00000298480.5_Silent_p.G12G	NM_001012415.2	NP_001012415	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1						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)		ccccggggggcgtctgccggg	0.731																																																0													12	16	15					9																	138594140		2168	4247	6415	SO:0001631	upstream_gene_variant	57582			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		chr9.hg19:g.138594140C>G	Exception_encountered		C9JG81|Q5EE14|Q5EGC2|Q8NEE3	Silent	SNP	ENST00000298466.5	hg19	CCDS35174.1																																																																																				0.731	SOHLH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055018.2	NM_001012415		G	138594140	C	G	138594140	1	3	780	0	1	0	0	0	0	0	0	0	8093	755	27	4		4	KCNT1	9	138594140	5'Flank	SNP	C	TCGA-PJ-A5Z9-01A-11D-A28G-10	817055	138594140	2619291	31	46131											
ANK3	288	hgsc.bcm.edu	37	10	61829169	61829169	+	Missense_Mutation	SNP	C	C	T			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr10:61829169C>T	ENST00000280772.2	-	37	11661	c.11470G>A	c.(11470-11472)Gtg>Atg	p.V3824M	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)	3824					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						GAGACTTTCACTGGGTTATCT	0.378																																																0													241	236	238					10																	61829169		2203	4300	6503	SO:0001583	missense	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.11470G>A	chr10.hg19:g.61829169C>T	ENSP00000280772:p.Val3824Met		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	hg19	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	12.81	2.048577	0.36181	.	.	ENSG00000151150	ENST00000280772	T	0.43688	0.94	4.99	3.09	0.35607	.	0.226364	0.22221	N	0.062959	T	0.22666	0.0547	N	0.14661	0.345	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.04537	-1.0944	10	0.45353	T	0.12	.	5.5172	0.16914	0.0:0.6224:0.1464:0.2312	.	3824	Q12955	ANK3_HUMAN	M	3824	ENSP00000280772:V3824M	ENSP00000280772:V3824M	V	-	1	0	ANK3	61499175	0.975000	0.34042	1.000000	0.80357	0.979000	0.70002	0.968000	0.29357	0.581000	0.29539	0.650000	0.86243	GTG		0.378	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		T	61829169	C	T	61829169	3	4	780	1	0	0	0	0	1	0	0	0	622	565	20	2	2004	2	ANK3	10	61829169	Missense_Mutation	SNP	C	TCGA-PJ-A5Z9-01A-11D-A28G-10		61829169	73705578	32	46132											
MMRN2	79812	hgsc.bcm.edu	37	10	88703695	88703695	+	Silent	SNP	G	G	A			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr10:88703695G>A	ENST00000372027.5	-	6	1167	c.846C>T	c.(844-846)gcC>gcT	p.A282A	MMRN2_ENST00000488950.1_5'UTR	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	282					angiogenesis (GO:0001525)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						AGTCAGCCCTGGCCACGGCAC	0.602																																																0													62	58	59					10																	88703695		2203	4300	6503	SO:0001819	synonymous_variant	79812			AK023527	CCDS7379.1	10q23.31	2004-03-10	2004-03-02	2004-03-02	ENSG00000173269	ENSG00000173269		"EMI domain containing"	19888	protein-coding gene	gene with protein product		608925	"elastin microfibril interfacer 3"	EMILIN3		11559704	Standard	NM_024756		Approved	EndoGlyx-1, FLJ13465	uc001kea.3	Q9H8L6	OTTHUMG00000018663	ENST00000372027.5:c.846C>T	chr10.hg19:g.88703695G>A			Q504V7|Q6P2N2	Silent	SNP	ENST00000372027.5	hg19	CCDS7379.1																																																																																				0.602	MMRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049179.2	NM_024756		A	88703695	G	A	88703695	2	1	780	1	0	0	0	0	0	0	0	1	9673	1335	47	2		2	MMRN2	10	88703695	Silent	SNP	G	TCGA-PJ-A5Z9-01A-11D-A28G-10	26874526	88703695	46831052	33	46133											
RRP12	23223	hgsc.bcm.edu	37	10	99160073	99160073	+	Missense_Mutation	SNP	C	C	T			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr10:99160073C>T	ENST00000370992.4	-	2	469	c.358G>A	c.(358-360)Gcc>Acc	p.A120T	RP11-452K12.7_ENST00000422848.1_RNA|RRP12_ENST00000414986.1_Missense_Mutation_p.A120T|RRP12_ENST00000315563.6_Missense_Mutation_p.A120T	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	120						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)		TCCTTGTGGGCAGCCGAGTTG	0.582																																																0													119	119	119					10																	99160073		2203	4300	6503	SO:0001583	missense	23223				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.358G>A	chr10.hg19:g.99160073C>T	ENSP00000360031:p.Ala120Thr		B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Missense_Mutation	SNP	ENST00000370992.4	hg19	CCDS7457.1	.	.	.	.	.	.	.	.	.	.	C	14.00	2.406058	0.42715	.	.	ENSG00000052749	ENST00000370992;ENST00000315563;ENST00000414986	T;T;T	0.64260	-0.09;1.52;1.51	5.7	4.8	0.61643	Armadillo-type fold (1);	0.208574	0.49916	D	0.000127	T	0.51295	0.1666	L	0.40543	1.245	0.80722	D	1	P;P;B	0.45715	0.787;0.865;0.001	B;B;B	0.39503	0.158;0.301;0.005	T	0.48246	-0.9052	10	0.13108	T	0.6	-11.1652	15.9236	0.79592	0.1366:0.8634:0.0:0.0	.	120;120;120	E9PCK7;Q5JTH9-2;Q5JTH9	.;.;RRP12_HUMAN	T	120	ENSP00000360031:A120T;ENSP00000324315:A120T;ENSP00000414863:A120T	ENSP00000324315:A120T	A	-	1	0	RRP12	99150063	0.992000	0.36948	0.983000	0.44433	0.965000	0.64279	3.045000	0.49838	1.429000	0.47314	-0.361000	0.07541	GCC		0.582	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4	NM_015179		T	99160073	C	T	99160073	3	4	780	1	0	0	0	0	1	0	0	0	13692	710	25	2	3667	2	RRP12	10	99160073	Missense_Mutation	SNP	C	TCGA-PJ-A5Z9-01A-11D-A28G-10	10456378	99160073	36374674	34	46134											
STK32C	282974	hgsc.bcm.edu	37	10	134036392	134036392	+	Silent	SNP	C	C	T			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr10:134036392C>T	ENST00000368622.1	-	9	1122	c.741G>A	c.(739-741)aaG>aaA	p.K247K	STK32C_ENST00000368625.4_Silent_p.K377K					serine/threonine kinase 32C											breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23		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)		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)		GCTCCACCCTCTTCTCGCTCA	0.711																																																0													20	22	21					10																	134036392		2183	4281	6464	SO:0001819	synonymous_variant	282974			AK057849	CCDS7666.1	10q26.3	2004-07-22			ENSG00000165752	ENSG00000165752			21332	protein-coding gene	gene with protein product							Standard	NM_173575		Approved	PKE, MGC23665, YANK3	uc001lle.1	Q86UX6	OTTHUMG00000019285	ENST00000368622.1:c.741G>A	chr10.hg19:g.134036392C>T				Silent	SNP	ENST00000368622.1	hg19																																																																																					0.711	STK32C-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000051068.2	NM_173575		T	134036392	C	T	134036392	2	4	780	1	0	0	0	0	0	0	0	1	15304	912	32	2		2	STK32C	10	134036392	Silent	SNP	C	TCGA-PJ-A5Z9-01A-11D-A28G-10	34876319	134036392	1498355	35	46135											
SLC22A18	5002	hgsc.bcm.edu	37	11	2937874	2937874	+	Missense_Mutation	SNP	G	G	T			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr11:2937874G>T	ENST00000380574.1	+	6	990	c.559G>T	c.(559-561)Gct>Tct	p.A187S	SLC22A18_ENST00000312221.5_Missense_Mutation_p.A187S|SLC22A18_ENST00000449793.2_Missense_Mutation_p.A89S|SLC22A18_ENST00000347936.2_Missense_Mutation_p.A187S			Q96BI1	S22AI_HUMAN	solute carrier family 22, member 18	187					drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|excretion (GO:0007588)|organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|symporter activity (GO:0015293)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192)		GGCCATCCTGGCTGCCCTGGC	0.687																																																0													41	44	43					11																	2937874		2202	4299	6501	SO:0001583	missense	5002			AF028738	CCDS7740.1	11p15.5	2013-05-22	2008-01-11	2004-01-21	ENSG00000110628	ENSG00000110628		"Solute carriers"	10964	protein-coding gene	gene with protein product		602631	"solute carrier family 22 (organic cation transporter), member 1-like"	ORCTL2, BWSCR1A, IMPT1, SLC22A1L		9499412, 9520460	Standard	NM_183233		Approved	BWR1A, TSSC5, ITM	uc001lwx.3	Q96BI1	OTTHUMG00000010037	ENST00000380574.1:c.559G>T	chr11.hg19:g.2937874G>T	ENSP00000369948:p.Ala187Ser		O14906|O43562|O60485|O60680|Q7LDS5|Q7LGF7	Missense_Mutation	SNP	ENST00000380574.1	hg19	CCDS7740.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.451570	0.43531	.	.	ENSG00000110628	ENST00000347936;ENST00000312221;ENST00000449793;ENST00000380574	T;T;T;T	0.81163	0.34;0.34;-1.46;0.34	3.77	2.8	0.32819	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.460037	0.20295	N	0.095157	D	0.84316	0.5445	M	0.62723	1.935	0.09310	N	1	D;D	0.59357	0.97;0.985	P;P	0.61070	0.681;0.883	T	0.74343	-0.3696	10	0.59425	D	0.04	-12.6812	8.7536	0.34633	0.0:0.0:0.7726:0.2273	.	89;187	E9PRM7;Q96BI1	.;S22AI_HUMAN	S	187;187;89;187	ENSP00000307859:A187S;ENSP00000311139:A187S;ENSP00000392072:A89S;ENSP00000369948:A187S	ENSP00000311139:A187S	A	+	1	0	SLC22A18	2894450	0.031000	0.19500	0.002000	0.10522	0.012000	0.07955	1.338000	0.33873	0.814000	0.34374	0.491000	0.48974	GCT		0.687	SLC22A18-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027770.1	NM_183233		T	2937874	G	T	2937874	3	4	780	1	0	0	0	0	1	0	0	0	14455	1203	42	4	577	4	SLC22A18	11	2937874	Missense_Mutation	SNP	G	TCGA-PJ-A5Z9-01A-11D-A28G-10		2937874	132068642	36	46136											
MARS	4141	hgsc.bcm.edu	37	12	57894254	57894254	+	Silent	SNP	G	G	C			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr12:57894254G>C	ENST00000262027.5	+	10	1376	c.1242G>C	c.(1240-1242)cgG>cgC	p.R414R	MARS_ENST00000447721.2_3'UTR|MARS_ENST00000315473.5_Silent_p.R180R	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	414					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)	AGGAGGCTCGGGGTGACCAGT	0.562																																																0													147	115	126					12																	57894254		2203	4300	6503	SO:0001819	synonymous_variant	4141			X94754	CCDS8942.1	12q13.3	2014-05-06	2007-02-26		ENSG00000166986	ENSG00000166986	6.1.1.10	"Aminoacyl tRNA synthetases / Class I"	6898	protein-coding gene	gene with protein product	"methionine tRNA ligase 1, cytoplasmic"	156560				10448063, 24482476	Standard	NM_004990		Approved	MetRS, SPG70	uc001sog.3	P56192	OTTHUMG00000169996	ENST00000262027.5:c.1242G>C	chr12.hg19:g.57894254G>C			B3KVK7|Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0	Silent	SNP	ENST00000262027.5	hg19	CCDS8942.1																																																																																				0.562	MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407014.1	NM_004990		C	57894254	G	C	57894254	2	2	780	1	0	0	0	0	0	0	0	1	9318	1219	43	4		4	MARS	12	57894254	Silent	SNP	G	TCGA-PJ-A5Z9-01A-11D-A28G-10		57894254	75957641	37	46137											
NBEA	26960	hgsc.bcm.edu	37	13	35770159	35770159	+	Missense_Mutation	SNP	G	G	T			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr13:35770159G>T	ENST00000400445.3	+	31	5620	c.5086G>T	c.(5086-5088)Ggc>Tgc	p.G1696C	NBEA_ENST00000310336.4_Missense_Mutation_p.G1696C|NBEA_ENST00000540320.1_Missense_Mutation_p.G1696C|NBEA_ENST00000379939.2_Missense_Mutation_p.G1693C	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1696					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)		AACAAGTACAGGCCCTGATGC	0.433																																																0													79	78	78					13																	35770159		1906	4130	6036	SO:0001583	missense	26960			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.5086G>T	chr13.hg19:g.35770159G>T	ENSP00000383295:p.Gly1696Cys		B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	hg19	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.376162	0.82682	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518	T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.76688	0.4022	M	0.68317	2.08	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.80764	0.846;0.994	T	0.77742	-0.2474	10	0.72032	D	0.01	.	13.6145	0.62099	0.0706:0.0:0.9294:0.0	.	1696;1693	Q8NFP9;Q5T321	NBEA_HUMAN;.	C	1696;1696;1693;1696;323	ENSP00000440951:G1696C;ENSP00000383295:G1696C;ENSP00000369271:G1693C;ENSP00000308534:G1696C	ENSP00000308534:G1696C	G	+	1	0	NBEA	34668159	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.455000	0.80726	2.843000	0.97960	0.585000	0.79938	GGC		0.433	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		T	35770159	G	T	35770159	3	4	780	1	0	0	0	0	1	0	0	0	10189	1000	35	4	5208	4	NBEA	13	35770159	Missense_Mutation	SNP	G	TCGA-PJ-A5Z9-01A-11D-A28G-10		35770159	79399719	38	46138											
FSIP1	161835	hgsc.bcm.edu	37	15	40056080	40056080	+	Silent	SNP	C	C	T			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr15:40056080C>T	ENST00000350221.3	-	5	710	c.501G>A	c.(499-501)gaG>gaA	p.E167E		NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	167										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)		TTTCCATCTCCTCTTTACTTT	0.299																																																0													51	57	55					15																	40056080		2201	4293	6494	SO:0001819	synonymous_variant	161835			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.501G>A	chr15.hg19:g.40056080C>T			Q6X2C8|Q86Y89	Silent	SNP	ENST00000350221.3	hg19	CCDS10050.1																																																																																				0.299	FSIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252118.2	NM_152597		T	40056080	C	T	40056080	2	4	780	1	0	0	0	0	0	0	0	1	6076	680	24	2		2	FSIP1	15	40056080	Silent	SNP	C	TCGA-PJ-A5Z9-01A-11D-A28G-10		40056080	62475312	39	46139											
NDUFAF1	51103	hgsc.bcm.edu	37	15	41689069	41689069	+	Silent	SNP	G	G	A			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr15:41689069G>A	ENST00000260361.4	-	2	570	c.189C>T	c.(187-189)caC>caT	p.H63H		NM_016013.3	NP_057097.2	Q9Y375	CIA30_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 1	63					mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|mitochondrial respiratory chain complex I (GO:0005747)	unfolded protein binding (GO:0051082)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	12		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;8e-17)|GBM - Glioblastoma multiforme(113;1.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.114)		CTTCTTTCTGGTGATCTCCTT	0.423																																																0													118	121	120					15																	41689069		2203	4300	6503	SO:0001819	synonymous_variant	51103			AF151823	CCDS10075.1	15q11.2-q21.3	2012-10-12	2012-05-08		ENSG00000137806	ENSG00000137806		"Mitochondrial respiratory chain complex assembly factors"	18828	protein-coding gene	gene with protein product		606934				11935339, 10810093	Standard	NM_016013		Approved	CIA30, CGI-65	uc001znx.3	Q9Y375	OTTHUMG00000130340	ENST00000260361.4:c.189C>T	chr15.hg19:g.41689069G>A			Q9BVZ5	Silent	SNP	ENST00000260361.4	hg19	CCDS10075.1																																																																																				0.423	NDUFAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252692.2	NM_016013		A	41689069	G	A	41689069	2	1	780	1	0	0	0	0	0	0	0	1	10276	1252	44	2		2	NDUFAF1	15	41689069	Silent	SNP	G	TCGA-PJ-A5Z9-01A-11D-A28G-10	1632989	41689069	60842323	40	46140											
C15orf42	90381	hgsc.bcm.edu	37	15	90167321	90167321	+	Silent	SNP	G	G	A			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr15:90167321G>A	ENST00000268138.7	+	20	3885	c.3780G>A	c.(3778-3780)acG>acA	p.T1260T	KIF7_ENST00000558928.1_Intron|TICRR_ENST00000560985.1_Silent_p.T1259T			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	1260	Pro-rich.				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)										TCATGGGCACGCCTCAGAATC	0.542																																																0													66	70	69					15																	90167321		2200	4299	6499	SO:0001819	synonymous_variant	90381			AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"TOPBP1-interacting replication-stimulating protein", "SLD3 homolog (S. cerevisiae)"	613298	"chromosome 15 open reading frame 42"	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.3780G>A	chr15.hg19:g.90167321G>A			B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Silent	SNP	ENST00000268138.7	hg19	CCDS10352.2																																																																																				0.542	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259		A	90167321	G	A	90167321	2	1	780	1	0	0	0	0	0	0	0	1	1798	1074	38	1		1	C15orf42	15	90167321	Silent	SNP	G	TCGA-PJ-A5Z9-01A-11D-A28G-10	48478252	90167321	12364071	41	46141											
ANKS3	124401	hgsc.bcm.edu	37	16	4748510	4748510	+	Missense_Mutation	SNP	G	G	T			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr16:4748510G>T	ENST00000304283.4	-	14	1936	c.1642C>A	c.(1642-1644)Cgc>Agc	p.R548S	ANKS3_ENST00000585773.1_Missense_Mutation_p.R475S|ANKS3_ENST00000446014.2_Missense_Mutation_p.R419S	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	548										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						TCGCGGGCGCGGTCCTGCTCC	0.736																																																0													6	7	6					16																	4748510		2086	4135	6221	SO:0001583	missense	124401			AK057329	CCDS10520.1, CCDS73820.1	16p13.3	2013-01-10			ENSG00000168096	ENSG00000168096		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	29422	protein-coding gene	gene with protein product						11853319	Standard	NM_133450		Approved	KIAA1977, FLJ32345, FLJ32767	uc002cxj.2	Q6ZW76	OTTHUMG00000129478	ENST00000304283.4:c.1642C>A	chr16.hg19:g.4748510G>T	ENSP00000304586:p.Arg548Ser		B4DWU4|D3DUE2|Q8TF25	Missense_Mutation	SNP	ENST00000304283.4	hg19	CCDS10520.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.318757	0.41096	.	.	ENSG00000168096	ENST00000304283;ENST00000446014	T;T	0.31510	1.49;3.24	5.46	-6.97	0.01616	.	1.035280	0.07528	N	0.911661	T	0.04815	0.0130	N	0.00289	-1.7	0.09310	N	0.999993	B	0.02656	0.0	B	0.01281	0.0	T	0.30001	-0.9993	10	0.08837	T	0.75	0.351	3.7451	0.08545	0.0874:0.2626:0.181:0.469	.	548	Q6ZW76	ANKS3_HUMAN	S	548;419	ENSP00000304586:R548S;ENSP00000406796:R419S	ENSP00000304586:R548S	R	-	1	0	ANKS3	4688511	0.000000	0.05858	0.001000	0.08648	0.091000	0.18340	-0.450000	0.06803	-1.265000	0.02449	-0.371000	0.07208	CGC		0.736	ANKS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251642.3	NM_133450		T	4748510	G	T	4748510	3	4	780	1	0	0	0	0	1	0	0	0	690	1116	39	4	344	4	ANKS3	16	4748510	Missense_Mutation	SNP	G	TCGA-PJ-A5Z9-01A-11D-A28G-10		4748510	85606243	42	46142											
GRIN2A	2903	hgsc.bcm.edu	37	16	10273887	10273887	+	Missense_Mutation	SNP	G	G	C			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr16:10273887G>C	ENST00000396573.2	-	3	691	c.382C>G	c.(382-384)Cat>Gat	p.H128D	GRIN2A_ENST00000330684.3_Missense_Mutation_p.H128D|GRIN2A_ENST00000404927.2_Missense_Mutation_p.H128D|GRIN2A_ENST00000562109.1_Missense_Mutation_p.H128D|GRIN2A_ENST00000396575.2_Missense_Mutation_p.H128D	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	128					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)	GCGCCCCCATGAATGCCCAAG	0.597																																																0													56	52	53					16																	10273887		2197	4300	6497	SO:0001583	missense	2903				CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.382C>G	chr16.hg19:g.10273887G>C	ENSP00000379818:p.His128Asp		O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	hg19	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.862300	0.71949	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000330684;ENST00000396575	D;D;D;D	0.85861	-2.04;-2.04;-2.04;-2.04	4.54	4.54	0.55810	Extracellular ligand-binding receptor (1);	0.062818	0.64402	D	0.000007	D	0.91068	0.7189	M	0.75447	2.3	0.80722	D	1	D;P;P	0.67145	0.996;0.879;0.803	D;P;P	0.64776	0.929;0.677;0.479	D	0.91402	0.5144	9	.	.	.	.	16.2901	0.82747	0.0:0.0:1.0:0.0	.	128;128;128	Q547U9;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	D	128	ENSP00000379818:H128D;ENSP00000385872:H128D;ENSP00000332549:H128D;ENSP00000379820:H128D	.	H	-	1	0	GRIN2A	10181388	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.938000	0.87678	2.088000	0.63022	0.561000	0.74099	CAT		0.597	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			C	10273887	G	C	10273887	3	2	780	1	0	0	0	0	1	0	0	0	6781	1290	45	4	4060	4	GRIN2A	16	10273887	Missense_Mutation	SNP	G	TCGA-PJ-A5Z9-01A-11D-A28G-10	5525377	10273887	80080866	43	46143											
DBNDD1	79007	hgsc.bcm.edu	37	16	90072805	90072805	+	Missense_Mutation	SNP	G	G	T			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr16:90072805G>T	ENST00000002501.6	-	4	546	c.415C>A	c.(415-417)Ccc>Acc	p.P139T	DBNDD1_ENST00000568838.1_Missense_Mutation_p.P259T|DBNDD1_ENST00000304733.3_Missense_Mutation_p.P159T|DBNDD1_ENST00000392973.3_Missense_Mutation_p.P145T	NM_001042610.1	NP_001036075.1	Q9H9R9	DBND1_HUMAN	dysbindin (dystrobrevin binding protein 1) domain containing 1	139						cytoplasm (GO:0005737)				kidney(1)|large_intestine(1)|lung(1)	3		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;0.0275)		TGCCGCTCGGGGTCGCCTAGG	0.677																																																0													35	45	42					16																	90072805		2023	4188	6211	SO:0001583	missense	79007			AK090696	CCDS10991.2, CCDS42223.1, CCDS73931.1	16q24.3	2008-02-05			ENSG00000003249	ENSG00000003249			28455	protein-coding gene	gene with protein product						12477932	Standard	NM_001288708		Approved	MGC3101, FLJ12582	uc002fqe.1	Q9H9R9	OTTHUMG00000138984	ENST00000002501.6:c.415C>A	chr16.hg19:g.90072805G>T	ENSP00000002501:p.Pro139Thr		B4DQS3|Q69YT2|Q9BW25	Missense_Mutation	SNP	ENST00000002501.6	hg19	CCDS42223.1	.	.	.	.	.	.	.	.	.	.	G	12.61	1.990417	0.35131	.	.	ENSG00000003249	ENST00000304733;ENST00000002501;ENST00000392973	T;T	0.30448	1.53;1.53	5.64	0.925	0.19424	.	0.270724	0.37577	N	0.002024	T	0.18002	0.0432	L	0.46157	1.445	0.25250	N	0.989681	B;B	0.20052	0.023;0.041	B;B	0.15052	0.012;0.011	T	0.13098	-1.0522	10	0.16420	T	0.52	-4.1737	1.4458	0.02364	0.2704:0.1553:0.4171:0.1571	.	139;159	Q9H9R9;Q9H9R9-2	DBND1_HUMAN;.	T	159;139;259	ENSP00000306407:P159T;ENSP00000002501:P139T	ENSP00000002501:P139T	P	-	1	0	DBNDD1	88600306	1.000000	0.71417	0.003000	0.11579	0.131000	0.20780	1.604000	0.36804	0.321000	0.23259	0.491000	0.48974	CCC		0.677	DBNDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272872.1	NM_024043		T	90072805	G	T	90072805	3	4	780	1	0	0	0	0	1	0	0	0	4255	1232	43	4	65	4	DBNDD1	16	90072805	Missense_Mutation	SNP	G	TCGA-PJ-A5Z9-01A-11D-A28G-10	79798918	90072805	281948	44	46144											
DNAH2	146754	hgsc.bcm.edu	37	17	7727530	7727530	+	Missense_Mutation	SNP	A	A	T			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr17:7727530A>T	ENST00000572933.1	+	76	13030	c.11570A>T	c.(11569-11571)cAc>cTc	p.H3857L	DNAH2_ENST00000389173.2_Missense_Mutation_p.H3857L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3857	AAA 6. {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)				CTGGCAGAGCACATGGGCATG	0.662																																																0													63	56	59					17																	7727530		2203	4300	6503	SO:0001583	missense	146754			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.11570A>T	chr17.hg19:g.7727530A>T	ENSP00000458355:p.His3857Leu		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	hg19	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	A	13.72	2.321206	0.41096	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.08193	3.12	4.9	4.9	0.64082	Dynein heavy chain (1);	0.564059	0.19257	N	0.118766	T	0.05731	0.0150	N	0.11201	0.11	0.80722	D	1	B;B	0.14012	0.007;0.009	B;B	0.12156	0.004;0.007	T	0.38802	-0.9644	10	0.40728	T	0.16	.	13.4924	0.61405	1.0:0.0:0.0:0.0	.	3818;3857	Q9P225-2;Q9P225	.;DYH2_HUMAN	L	3818;3857	ENSP00000373825:H3857L	ENSP00000353818:H3818L	H	+	2	0	DNAH2	7668255	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	4.869000	0.63028	1.848000	0.53677	0.334000	0.21626	CAC		0.662	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		T	7727530	A	T	7727530	3	4	780	1	0	0	0	0	1	0	0	0	4604	159	6	5	11868	5	DNAH2	17	7727530	Missense_Mutation	SNP	A	TCGA-PJ-A5Z9-01A-11D-A28G-10		7727530	73467680	45	46145											
SPAG5	10615	hgsc.bcm.edu	37	17	26912886	26912886	+	Missense_Mutation	SNP	T	T	C			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr17:26912886T>C	ENST00000321765.5	-	7	2068	c.1736A>G	c.(1735-1737)gAt>gGt	p.D579G		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	579	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)				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)					CCTTACCGCATCCTTGCCTCT	0.498																																																0													225	197	206					17																	26912886		2203	4300	6503	SO:0001583	missense	10615			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.1736A>G	chr17.hg19:g.26912886T>C	ENSP00000323300:p.Asp579Gly		O95213|Q9BWE8|Q9NT17|Q9UFE6	Missense_Mutation	SNP	ENST00000321765.5	hg19	CCDS32594.1	.	.	.	.	.	.	.	.	.	.	T	15.69	2.907625	0.52333	.	.	ENSG00000076382	ENST00000321765;ENST00000536674	.	.	.	5.82	3.52	0.40303	.	0.549745	0.17799	N	0.161643	T	0.25827	0.0629	L	0.29908	0.895	0.22096	N	0.999364	P	0.48294	0.908	B	0.39660	0.306	T	0.05099	-1.0906	9	0.56958	D	0.05	-1.7343	10.252	0.43375	0.0:0.0:0.3183:0.6817	.	579	Q96R06	SPAG5_HUMAN	G	579;76	.	ENSP00000323300:D579G	D	-	2	0	SPAG5	23937013	0.989000	0.36119	0.994000	0.49952	0.917000	0.54804	1.208000	0.32345	0.414000	0.25790	0.533000	0.62120	GAT		0.498	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390564.2	NM_006461		C	26912886	T	C	26912886	3	2	780	1	0	0	0	0	1	0	0	0	14987	1435	50	3	1917	3	SPAG5	17	26912886	Missense_Mutation	SNP	T	TCGA-PJ-A5Z9-01A-11D-A28G-10	19185356	26912886	54282324	46	46146											
KRT13	3860	hgsc.bcm.edu	37	17	39658844	39658844	+	Silent	SNP	T	T	C			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr17:39658844T>C	ENST00000246635.3	-	6	1072	c.1026A>G	c.(1024-1026)aaA>aaG	p.K342K	KRT13_ENST00000587544.1_Silent_p.K342K|KRT13_ENST00000587118.1_5'Flank|KRT13_ENST00000336861.3_Silent_p.K342K|AC019349.5_ENST00000411759.1_RNA	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	342	Coil 2.|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)				CCAGCCCCGCTTTCTGGTGGA	0.627																																																0													70	66	67					17																	39658844		2203	4300	6503	SO:0001819	synonymous_variant	3860				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.1026A>G	chr17.hg19:g.39658844T>C			Q53G54|Q6AZK5|Q8N240	Silent	SNP	ENST00000246635.3	hg19	CCDS11396.1																																																																																				0.627	KRT13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257297.1	NM_153490		C	39658844	T	C	39658844	2	2	780	1	0	0	0	0	0	0	0	1	8452	1606	56	3		3	KRT13	17	39658844	Silent	SNP	T	TCGA-PJ-A5Z9-01A-11D-A28G-10	12745958	39658844	41536366	47	46147											
SLC14A1	6563	hgsc.bcm.edu	37	18	43316457	43316458	+	Frame_Shift_Ins	INS	-	-	A			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr18:43316457_43316458insA	ENST00000321925.4	+	6	739_740	c.507_508insA	c.(508-510)aaafs	p.K170fs	SLC14A1_ENST00000535474.1_Frame_Shift_Ins_p.K38fs|SLC14A1_ENST00000586142.1_Frame_Shift_Ins_p.K170fs|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A1_ENST00000402943.2_Frame_Shift_Ins_p.K65fs|SLC14A1_ENST00000415427.3_Frame_Shift_Ins_p.K226fs|RP11-116O18.3_ENST00000586213.1_RNA|SLC14A1_ENST00000589700.1_Frame_Shift_Ins_p.K170fs|SLC14A1_ENST00000591943.1_Intron|SLC14A1_ENST00000436407.3_Frame_Shift_Ins_p.K226fs|SLC14A1_ENST00000502059.2_Frame_Shift_Ins_p.K62fs	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)	170					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						CCATGCTCAGCAAATGGGACCT	0.455																																																0																																										SO:0001589	frameshift_variant	6563			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.510dupA	chr18.hg19:g.43316460_43316460dupA	ENSP00000318546:p.Lys170fs		A8K0P3|B3KR62|B3KVX3|C9EHF2|Q86VM5	Frame_Shift_Ins	INS	ENST00000321925.4	hg19	CCDS11925.1																																																																																				0.455	SLC14A1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255860.2	NM_015865		A	43316458	-	A	43316457	7	5	780	1	0	1	1	0	0	0	0	0	14402	709	25	0	693	0	SLC14A1	18	43316457	Frame_Shift_Ins	INS	-	TCGA-PJ-A5Z9-01A-11D-A28G-10		43316457	34760791	48	46148											
TMEM149	79713	hgsc.bcm.edu	37	19	36230984	36230986	+	In_Frame_Del	DEL	CGG	CGG	-	rs200340760		TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10	CGG	CGG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr19:36230984_36230986delCGG	ENST00000592537.1	-	4	446_448	c.346_348delCCG	c.(346-348)ccgdel	p.P116del	AD000671.6_ENST00000589807.1_3'UTR|IGFLR1_ENST00000587101.1_5'UTR|IGFLR1_ENST00000246532.1_In_Frame_Del_p.P116del|KMT2B_ENST00000607650.1_RNA|IGFLR1_ENST00000588992.1_Intron|IGFLR1_ENST00000592889.1_Intron|IGFLR1_ENST00000344990.3_Intron			Q9H665	IGFR1_HUMAN	IGF-like family receptor 1	116						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(3)|large_intestine(1)|lung(8)|prostate(1)	15						TGGCAGGGACCGGCCTCTGGGGA	0.621																																																0																																										SO:0001651	inframe_deletion	79713			AK026226	CCDS12472.1	19q13.12	2012-10-02	2011-04-04	2011-04-04	ENSG00000126246	ENSG00000126246			23620	protein-coding gene	gene with protein product		614143	"U2(RNU2) small nuclear RNA auxiliary factor 1-like 4", "transmembrane protein 149"	U2AF1L4, TMEM149		21454693	Standard	NM_024660		Approved	FLJ22573	uc002obd.4	Q9H665		ENST00000592537.1:c.346_348delCCG	chr19.hg19:g.36230984_36230986delCGG	ENSP00000466181:p.Pro116del		Q8N5X0	In_Frame_Del	DEL	ENST00000592537.1	hg19	CCDS12472.1																																																																																				0.621	IGFLR1-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459077.1	NM_024660		-	36230986	CGG	-	36230984	7	5	780	1	0	1	0	1	0	0	0	0	16067	639	23	0	727	0	TMEM149	19	36230984	In_Frame_Del	DEL	CGG	TCGA-PJ-A5Z9-01A-11D-A28G-10		36230984	22897999	49	46149											
TMC2	117532	hgsc.bcm.edu	37	20	2592879	2592879	+	Missense_Mutation	SNP	C	C	G			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr20:2592879C>G	ENST00000358864.1	+	13	1651	c.1636C>G	c.(1636-1638)Ctg>Gtg	p.L546V	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	546					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						TCACTGGACTCTGTTTAACTA	0.512																																																0													155	134	141					20																	2592879		2203	4300	6503	SO:0001583	missense	117532			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.1636C>G	chr20.hg19:g.2592879C>G	ENSP00000351732:p.Leu546Val		Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Missense_Mutation	SNP	ENST00000358864.1	hg19	CCDS13029.2	.	.	.	.	.	.	.	.	.	.	C	14.67	2.603805	0.46423	.	.	ENSG00000149488	ENST00000358864	T	0.66099	-0.19	5.85	5.85	0.93711	.	0.076272	0.53938	D	0.000052	T	0.69540	0.3122	M	0.73962	2.25	0.49051	D	0.999745	B;P;P;P	0.41524	0.382;0.563;0.753;0.638	B;B;P;B	0.46299	0.091;0.139;0.511;0.313	T	0.64609	-0.6367	10	0.22706	T	0.39	-10.7732	18.0364	0.89305	0.0:1.0:0.0:0.0	.	377;378;546;546	B4DFB3;B7ZAE6;Q8TDI7-3;Q8TDI7	.;.;.;TMC2_HUMAN	V	546	ENSP00000351732:L546V	ENSP00000351732:L546V	L	+	1	2	TMC2	2540879	0.933000	0.31639	1.000000	0.80357	0.997000	0.91878	1.970000	0.40520	2.941000	0.99782	0.655000	0.94253	CTG		0.512	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2			G	2592879	C	G	2592879	3	3	780	1	0	0	0	0	1	0	0	0	15990	912	32	4	1686	4	TMC2	20	2592879	Missense_Mutation	SNP	C	TCGA-PJ-A5Z9-01A-11D-A28G-10		2592879	60432641	50	46150											
PANK2	80025	hgsc.bcm.edu	37	20	3869791	3869791	+	Missense_Mutation	SNP	C	C	T			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr20:3869791C>T	ENST00000316562.4	+	1	50	c.44C>T	c.(43-45)gCg>gTg	p.A15V	PANK2_ENST00000497424.1_Intron|RP11-119B16.2_ENST00000451507.1_RNA|PANK2_ENST00000610179.1_5'Flank	NM_153638.2	NP_705902.2	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	15					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						CATTGGGCGGCGCCGCCATCA	0.701																																																0													19	14	16					20																	3869791		2183	4282	6465	SO:0001583	missense	80025			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.44C>T	chr20.hg19:g.3869791C>T	ENSP00000313377:p.Ala15Val		B1AK33|B2Z3X0|D3DVZ0|Q5T7I2|Q5T7I4|Q7RTX5|Q8N7Q4|Q8TCR5|Q9BYW5|Q9HAF2	Missense_Mutation	SNP	ENST00000316562.4	hg19	CCDS13071.2	.	.	.	.	.	.	.	.	.	.	C	6.152	0.396211	0.11638	.	.	ENSG00000125779	ENST00000316562	D	0.97455	-4.39	4.57	-1.13	0.09775	.	0.546626	0.15407	N	0.263980	D	0.88691	0.6505	N	0.08118	0	0.21933	N	0.99946	B	0.06786	0.001	B	0.04013	0.001	T	0.80320	-0.1432	10	0.30854	T	0.27	-4.0E-4	4.3121	0.10976	0.0:0.4:0.1682:0.4318	.	15	Q9BZ23	PANK2_HUMAN	V	15	ENSP00000313377:A15V	ENSP00000313377:A15V	A	+	2	0	PANK2	3817791	0.959000	0.32827	0.677000	0.29947	0.004000	0.04260	-0.096000	0.11059	-0.135000	0.11495	-0.175000	0.13238	GCG		0.701	PANK2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077793.2	NM_024960		T	3869791	C	T	3869791	3	4	780	1	0	0	0	0	1	0	0	0	11419	768	27	1	46	1	PANK2	20	3869791	Missense_Mutation	SNP	C	TCGA-PJ-A5Z9-01A-11D-A28G-10	1276912	3869791	59155729	51	46151											
VAPB	9217	hgsc.bcm.edu	37	20	57009683	57009684	+	Frame_Shift_Ins	INS	-	-	C			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr20:57009683_57009684insC	ENST00000475243.1	+	3	575_576	c.237_238insC	c.(238-240)cccfs	p.P80fs	VAPB_ENST00000265619.2_Intron|VAPB_ENST00000395802.3_Intron	NM_004738.4	NP_004729.1	O95292	VAPB_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein B and C	80	MSP. {ECO:0000255|PROSITE- ProRule:PRU00132}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|endoplasmic reticulum unfolded protein response (GO:0030968)|modulation by virus of host morphology or physiology (GO:0019048)|positive regulation of viral genome replication (GO:0045070)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-tubulin binding (GO:0048487)|enzyme binding (GO:0019899)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|structural molecule activity (GO:0005198)			kidney(2)|lung(3)|prostate(1)	6	Lung NSC(12;0.000615)|all_lung(29;0.00186)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;3.7e-08)|all cancers(14;3.88e-07)			TCGATTATGATCCCAATGAGAA	0.361																																																0																																										SO:0001589	frameshift_variant	9217			AF086628	CCDS33498.1, CCDS56198.1	20q13	2014-09-17			ENSG00000124164	ENSG00000124164			12649	protein-coding gene	gene with protein product		605704				9920726	Standard	NM_004738		Approved	VAP-B, VAP-C, ALS8	uc002xza.3	O95292	OTTHUMG00000032840	ENST00000475243.1:c.240dupC	chr20.hg19:g.57009686_57009686dupC	ENSP00000417175:p.Pro80fs		A2A2F2|O95293|Q9P0H0	Frame_Shift_Ins	INS	ENST00000475243.1	hg19	CCDS33498.1																																																																																				0.361	VAPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079875.2			C	57009684	-	C	57009683	7	5	780	1	0	1	1	0	0	0	0	0	17127	1432	50	0	247	0	VAPB	20	57009683	Frame_Shift_Ins	INS	-	TCGA-PJ-A5Z9-01A-11D-A28G-10	53139892	57009683	6015837	52	46152											
KRTAP19-5	337972	hgsc.bcm.edu	37	21	31874285	31874285	+	Missense_Mutation	SNP	C	C	T	rs370535457		TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr21:31874285C>T	ENST00000334151.2	-	1	150	c.124G>A	c.(124-126)Gga>Aga	p.G42R		NM_181611.1	NP_853642.1	Q3LI72	KR195_HUMAN	keratin associated protein 19-5	42						intermediate filament (GO:0005882)				endometrium(1)|large_intestine(5)|lung(4)|pancreas(1)|prostate(1)	12						CCGTAGCCTCCGTAGCCACCG	0.572													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17165	0.0		0.0	False		,,,				2504	0.0															0								C	ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	128	122	124		124	-0.3	0	21		124	0,8600		0,0,4300	no	missense	KRTAP19-5	NM_181611.1	125	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	42/73	31874285	1,13005	2203	4300	6503	SO:0001583	missense	337972			AP001708	CCDS13597.1	21q22.1	2006-03-13			ENSG00000186977	ENSG00000186977		"Keratin associated proteins"	18940	protein-coding gene	gene with protein product						12359730	Standard	NM_181611		Approved	KAP19.5	uc011ada.2	Q3LI72	OTTHUMG00000057774	ENST00000334151.2:c.124G>A	chr21.hg19:g.31874285C>T	ENSP00000334985:p.Gly42Arg		A4IF22	Missense_Mutation	SNP	ENST00000334151.2	hg19	CCDS13597.1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.920297	0.33908	2.27E-4	0.0	ENSG00000186977	ENST00000334151	T	0.11495	2.77	5.06	-0.26	0.12967	.	0.758211	0.10161	U	0.708309	T	0.07279	0.0184	.	.	.	0.09310	N	0.999999	P	0.48089	0.905	B	0.37480	0.251	T	0.30001	-0.9993	9	0.87932	D	0	-0.8878	4.9837	0.14180	0.0:0.5363:0.1489:0.3148	.	42	Q3LI72	KR195_HUMAN	R	42	ENSP00000334985:G42R	ENSP00000334985:G42R	G	-	1	0	KRTAP19-5	30796156	0.001000	0.12720	0.021000	0.16686	0.458000	0.32498	0.145000	0.16157	0.018000	0.15052	0.591000	0.81541	GGA		0.572	KRTAP19-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128226.2			T	31874285	C	T	31874285	3	4	780	1	0	0	0	0	1	0	0	0	8534	661	23	1	97	1	KRTAP19-5	21	31874285	Missense_Mutation	SNP	C	TCGA-PJ-A5Z9-01A-11D-A28G-10		31874285	16255610	53	46153											
SREBF2	6721	hgsc.bcm.edu	37	22	42289217	42289217	+	Frame_Shift_Del	DEL	T	T	-			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr22:42289217delT	ENST00000361204.4	+	12	2471	c.2305delT	c.(2305-2307)tttfs	p.F770fs	SREBF2_ENST00000491541.1_3'UTR	NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	770					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						GGGCCAGAAGTTTTTCATGGA	0.582																																																0													55	58	57					22																	42289217		2203	4300	6503	SO:0001589	frameshift_variant	6721			U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911		"Basic helix-loop-helix proteins"	11290	protein-coding gene	gene with protein product		600481				7903453	Standard	NM_004599		Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.2305delT	chr22.hg19:g.42289217delT	ENSP00000354476:p.Phe770fs		Q05BD5|Q6GTH7|Q86V36|Q9UH04	Frame_Shift_Del	DEL	ENST00000361204.4	hg19	CCDS14023.1																																																																																				0.582	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321956.1	NM_004599		-	42289217	T	-	42289217	7	5	780	1	0	1	0	1	0	0	0	0	15147	1725	60	0	2351	0	SREBF2	22	42289217	Frame_Shift_Del	DEL	T	TCGA-PJ-A5Z9-01A-11D-A28G-10		42289217	9015349	54	46154											
TBL1X	6907	hgsc.bcm.edu	37	X	9683003	9683003	+	Missense_Mutation	SNP	C	C	T			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chrX:9683003C>T	ENST00000217964.7	+	17	2307	c.1667C>T	c.(1666-1668)gCc>gTc	p.A556V	TBL1X_ENST00000407597.2_Missense_Mutation_p.A556V|TBL1X_ENST00000424279.1_Missense_Mutation_p.A505V|TBL1X_ENST00000380961.1_Missense_Mutation_p.A505V|TBL1X_ENST00000536365.1_Missense_Mutation_p.A505V	NM_005647.3	NP_005638.1	O60907	TBL1X_HUMAN	transducin (beta)-like 1X-linked	556					canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|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)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20		Hepatocellular(5;0.000888)				TGCTGGAACGCCCGAGGAGAC	0.592																																																0													86	62	70					X																	9683003		2203	4300	6503	SO:0001583	missense	6907			Y12781	CCDS14133.1, CCDS48078.1	Xp22.3	2013-01-10	2002-05-22	2002-05-24	ENSG00000101849	ENSG00000101849		"WD repeat domain containing"	11585	protein-coding gene	gene with protein product		300196	"transducin (beta)-like 1"	TBL1		10330347	Standard	NM_005647		Approved	EBI	uc004csr.3	O60907	OTTHUMG00000021117	ENST00000217964.7:c.1667C>T	chrX.hg19:g.9683003C>T	ENSP00000217964:p.Ala556Val		A8K044|A8K4J7|Q86UY2	Missense_Mutation	SNP	ENST00000217964.7	hg19	CCDS14133.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.297142	0.60086	.	.	ENSG00000101849	ENST00000407597;ENST00000424279;ENST00000536365;ENST00000380961;ENST00000217964	T;T;T;T;T	0.81247	-1.47;-1.47;-1.47;-1.47;-1.47	3.8	3.8	0.43715	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.116908	0.56097	D	0.000024	T	0.77994	0.4214	L	0.58101	1.795	0.44852	D	0.997864	B;B	0.29955	0.263;0.263	B;B	0.29598	0.104;0.104	T	0.80054	-0.1543	10	0.72032	D	0.01	.	15.6252	0.76851	0.0:1.0:0.0:0.0	.	519;556	Q59F53;O60907	.;TBL1X_HUMAN	V	556;505;505;505;556	ENSP00000385988:A556V;ENSP00000394097:A505V;ENSP00000445317:A505V;ENSP00000370348:A505V;ENSP00000217964:A556V	ENSP00000217964:A556V	A	+	2	0	TBL1X	9643003	1.000000	0.71417	0.958000	0.39756	0.937000	0.57800	4.399000	0.59703	1.667000	0.50832	0.429000	0.28392	GCC		0.592	TBL1X-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055709.1	NM_005647		T	9683003	C	T	9683003	3	4	780	1	0	0	0	0	1	0	0	0	15644	739	26	2	1721	2	TBL1X	23	9683003	Missense_Mutation	SNP	C	TCGA-PJ-A5Z9-01A-11D-A28G-10		9683003	145587557	55	46155											
PHKA1	5255	hgsc.bcm.edu	37	X	71802352	71802352	+	Missense_Mutation	SNP	G	G	A			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chrX:71802352G>A	ENST00000373542.4	-	31	3553	c.3394C>T	c.(3394-3396)Ctt>Ttt	p.L1132F	PHKA1_ENST00000339490.3_Missense_Mutation_p.L1119F|PHKA1_ENST00000541944.1_Missense_Mutation_p.L1060F|PHKA1_ENST00000373539.3_Missense_Mutation_p.L1149F|PHKA1_ENST00000373545.3_Missense_Mutation_p.L1090F	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	1132					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					GTGAGGACAAGGATGGCTTCA	0.448																																																0													114	86	96					X																	71802352		2203	4300	6503	SO:0001583	missense	5255				CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.3394C>T	chrX.hg19:g.71802352G>A	ENSP00000362643:p.Leu1132Phe		B7ZL05|B7ZL07|Q2M3D7	Missense_Mutation	SNP	ENST00000373542.4	hg19	CCDS14421.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.819920	0.50633	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000541944;ENST00000339490;ENST00000373539	D;D;D;D;D	0.91464	-2.84;-2.85;-2.83;-2.82;-2.83	5.12	5.12	0.69794	.	0.000000	0.64402	D	0.000001	D	0.93216	0.7839	M	0.63428	1.95	0.48901	D	0.999723	D;P;P;D	0.76494	0.999;0.913;0.794;0.975	D;P;P;P	0.87578	0.998;0.459;0.66;0.835	D	0.92493	0.6002	10	0.46703	T	0.11	-11.3305	8.8082	0.34952	0.1046:0.0:0.8954:0.0	.	1060;1090;1119;1132	B7ZL07;A6NIT2;P46020-2;P46020	.;.;.;KPB1_HUMAN	F	1090;1132;1060;1119;1149	ENSP00000362646:L1090F;ENSP00000362643:L1132F;ENSP00000441251:L1060F;ENSP00000342469:L1119F;ENSP00000362640:L1149F	ENSP00000342469:L1119F	L	-	1	0	PHKA1	71719077	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.085000	0.30840	2.132000	0.65825	0.594000	0.82650	CTT		0.448	PHKA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058896.1			A	71802352	G	A	71802352	3	1	780	1	0	0	0	0	1	0	0	0	11845	1000	35	2	285	2	PHKA1	23	71802352	Missense_Mutation	SNP	G	TCGA-PJ-A5Z9-01A-11D-A28G-10	62119349	71802352	83468208	56	46156											
GPR50	9248	hgsc.bcm.edu	37	X	150348665	150348665	+	Missense_Mutation	SNP	G	G	A			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chrX:150348665G>A	ENST00000218316.3	+	2	679	c.610G>A	c.(610-612)Gtg>Atg	p.V204M	AF003625.3_ENST00000602313.1_lincRNA|GPR50-AS1_ENST00000454196.1_RNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	204					cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					TCTCCTCATCGTGGGTTTCTG	0.532																																																0													230	203	212					X																	150348665		2123	4223	6346	SO:0001583	missense	9248			U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"GPCR / Class A : Orphans"	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.610G>A	chrX.hg19:g.150348665G>A	ENSP00000218316:p.Val204Met		Q0VGG3|Q3ZAR0	Missense_Mutation	SNP	ENST00000218316.3	hg19	CCDS44012.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.456799	0.63401	.	.	ENSG00000102195	ENST00000535473;ENST00000218316	T	0.35048	1.33	4.33	4.33	0.51752	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.50684	0.1630	L	0.53729	1.69	0.47547	D	0.999454	D;P	0.69078	0.997;0.819	D;P	0.64321	0.924;0.668	T	0.47018	-0.9149	10	0.36615	T	0.2	-12.9108	13.7644	0.62986	0.0:0.0:1.0:0.0	.	157;204	F5H1S3;Q13585	.;MTR1L_HUMAN	M	157;204	ENSP00000218316:V204M	ENSP00000218316:V204M	V	+	1	0	GPR50	150099323	1.000000	0.71417	0.981000	0.43875	0.745000	0.42441	9.754000	0.98908	1.903000	0.55091	0.529000	0.55759	GTG		0.532	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1	NM_004224		A	150348665	G	A	150348665	3	1	780	1	0	0	0	0	1	0	0	0	6699	1145	40	1	616	1	GPR50	23	150348665	Missense_Mutation	SNP	G	TCGA-PJ-A5Z9-01A-11D-A28G-10	78546313	150348665	4921895	57	46157											
RENBP	5973	hgsc.bcm.edu	37	X	153200791	153200791	+	Missense_Mutation	SNP	G	G	T			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chrX:153200791G>T	ENST00000393700.3	-	11	1312	c.1232C>A	c.(1231-1233)cCc>cAc	p.P411H	NAA10_ENST00000370015.4_5'Flank|RENBP_ENST00000369997.3_Missense_Mutation_p.P397H|NAA10_ENST00000370009.1_5'Flank|NAA10_ENST00000393712.3_5'Flank|RENBP_ENST00000412763.1_3'UTR|NAA10_ENST00000393710.3_5'Flank|NAA10_ENST00000464845.1_5'Flank	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	411					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)	ggcgggggcggggCGGCTCAG	0.751																																																0													2	3	2					X																	153200791		1563	2987	4550	SO:0001583	missense	5973				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.1232C>A	chrX.hg19:g.153200791G>T	ENSP00000377303:p.Pro411His		B4DNZ3|Q96BI6	Missense_Mutation	SNP	ENST00000393700.3	hg19	CCDS14738.2	.	.	.	.	.	.	.	.	.	.	g	13.98	2.398865	0.42512	.	.	ENSG00000102032	ENST00000393700;ENST00000369997;ENST00000451114	T;T	0.32988	1.43;1.43	3.76	-6.35	0.01975	Six-hairpin glycosidase-like (1);	2.963070	0.01364	U	0.012354	T	0.24890	0.0604	L	0.44542	1.39	0.09310	N	0.99999	B	0.02656	0.0	B	0.01281	0.0	T	0.19353	-1.0308	10	0.45353	T	0.12	1.1156	7.9104	0.29787	0.1647:0.1371:0.6982:0.0	.	411	P51606	RENBP_HUMAN	H	411;397;124	ENSP00000377303:P411H;ENSP00000359014:P397H	ENSP00000359014:P397H	P	-	2	0	RENBP	152853985	0.000000	0.05858	0.000000	0.03702	0.698000	0.40448	-1.269000	0.02834	-1.762000	0.01308	0.445000	0.29226	CCC		0.751	RENBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061103.3	NM_002910		T	153200791	G	T	153200791	3	4	780	1	0	0	0	0	1	0	0	0	13231	1232	43	4	55	4	RENBP	23	153200791	Missense_Mutation	SNP	G	TCGA-PJ-A5Z9-01A-11D-A28G-10	2852126	153200791	2069769	58	46158											
UBIAD1	29914	hgsc.bcm.edu	37	1	11345827	11345827	+	Missense_Mutation	SNP	T	T	C			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr1:11345827T>C	ENST00000376810.5	+	2	982	c.656T>C	c.(655-657)aTc>aCc	p.I219T	UBIAD1_ENST00000376804.2_Intron	NM_013319.2	NP_037451.1	Q9Y5Z9	UBIA1_HUMAN	UbiA prenyltransferase domain containing 1	219					menaquinone biosynthetic process (GO:0009234)|ubiquinone biosynthetic process (GO:0006744)|vitamin K biosynthetic process (GO:0042371)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	antioxidant activity (GO:0016209)|prenyltransferase activity (GO:0004659)			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		GTCTATGCCATCCCCCTCGCC	0.607																																																0													170	136	148					1																	11345827		2203	4300	6503	SO:0001583	missense	29914				CCDS129.1	1p36.22	2012-05-02			ENSG00000120942	ENSG00000120942			30791	protein-coding gene	gene with protein product	"transitional epithelia response protein"	611632	"Schnyder crystalline corneal dystrophy"	SCCD		20953171, 12497587, 11314041, 17668063, 17962451, 8894705	Standard	NM_013319		Approved	TERE1	uc001asg.3	Q9Y5Z9	OTTHUMG00000002075	ENST00000376810.5:c.656T>C	chr1.hg19:g.11345827T>C	ENSP00000366006:p.Ile219Thr		B3KQG3|Q53GX3|Q5THD4	Missense_Mutation	SNP	ENST00000376810.5	hg19	CCDS129.1	.	.	.	.	.	.	.	.	.	.	T	17.95	3.514621	0.64634	.	.	ENSG00000120942	ENST00000376810	D	0.92752	-3.1	5.94	5.94	0.96194	.	0.260438	0.37623	N	0.002007	D	0.90024	0.6885	L	0.52364	1.645	0.80722	D	1	P	0.45768	0.866	B	0.43194	0.411	D	0.89014	0.3430	10	0.33940	T	0.23	-5.3535	14.1354	0.65284	0.0:0.0:0.0:1.0	.	219	Q9Y5Z9	UBIA1_HUMAN	T	219	ENSP00000366006:I219T	ENSP00000366006:I219T	I	+	2	0	UBIAD1	11268414	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.665000	0.83852	2.265000	0.75225	0.482000	0.46254	ATC		0.607	UBIAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005773.1	NM_013319		C	11345827	T	C	11345827	3	2	781	1	0	0	0	0	1	0	0	0	16890	1435	50	3	662	3	UBIAD1	1	11345827	Missense_Mutation	SNP	T	TCGA-PJ-A8JU-01A-11D-A35Z-10		11345827	237904794	1	46159											
COL16A1	1307	hgsc.bcm.edu	37	1	32151315	32151315	+	Silent	SNP	A	A	G			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr1:32151315A>G	ENST00000373672.3	-	29	2457	c.1941T>C	c.(1939-1941)cgT>cgC	p.R647R	COL16A1_ENST00000373668.3_Silent_p.R647R|COL16A1_ENST00000271069.6_Silent_p.R646R	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	647	Nonhelical region 7 (NC7).				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		AGGCCACCACACGGACATCCC	0.642																																					Colon(143;498 1786 21362 25193 36625)											0													108	116	114					1																	32151315		1933	4136	6069	SO:0001819	synonymous_variant	1307			M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"Collagens"	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.1941T>C	chr1.hg19:g.32151315A>G			Q16593|Q59F89|Q71RG9	Silent	SNP	ENST00000373672.3	hg19	CCDS41297.1																																																																																				0.642	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856		G	32151315	A	G	32151315	2	3	781	1	0	0	0	0	0	0	0	1	3675	146	6	3		3	COL16A1	1	32151315	Silent	SNP	A	TCGA-PJ-A8JU-01A-11D-A35Z-10	20805488	32151315	217099306	2	46160											
C1orf113	79729	hgsc.bcm.edu	37	1	36773209	36773209	+	Intron	SNP	G	G	A			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr1:36773209G>A	ENST00000426732.2	+	5	373				SH3D21_ENST00000453908.2_Splice_Site|SH3D21_ENST00000505871.1_Splice_Site|SH3D21_ENST00000312808.4_Splice_Site			A4FU49	SH321_HUMAN	SH3 domain containing 21							extracellular vesicular exosome (GO:0070062)				endometrium(1)|large_intestine(6)|lung(4)|pancreas(1)	12						GGGCCCCCAAGTGAGACCTCG	0.577																																																0													102	107	105					1																	36773209		692	1591	2283	SO:0001627	intron_variant	79729			AK056459	CCDS30674.1, CCDS30674.2	1p34.3	2011-02-21	2011-02-21	2011-02-21	ENSG00000214193	ENSG00000214193			26236	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 113"	C1orf113		12477932	Standard	NM_024676		Approved	FLJ22938	uc010oia.1	A4FU49	OTTHUMG00000007868	ENST00000426732.2:c.89-162G>A	chr1.hg19:g.36773209G>A			B4DLI6|D3DPS6|J3KQM5|Q5VTK7|Q86XZ6|Q8N445|Q96DN4|Q9H5W5	Splice_Site	SNP	ENST00000426732.2	hg19		.	.	.	.	.	.	.	.	.	.	G	23.1	4.379730	0.82682	.	.	ENSG00000214193	ENST00000373139;ENST00000453908;ENST00000505871	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4867	0.67622	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SH3D21	36545796	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.008000	0.63991	2.491000	0.84063	0.655000	0.94253	.		0.577	SH3D21-202	KNOWN	basic	protein_coding	protein_coding		NM_024676		A	36773209	G	A	36773209	1	1	781	0	1	0	0	0	0	0	0	0	1988	1043	36	2		2	C1orf113	1	36773209	Intron	SNP	G	TCGA-PJ-A8JU-01A-11D-A35Z-10	4621894	36773209	212477412	3	46161											
BSND	7809	hgsc.bcm.edu	37	1	55472846	55472846	+	Missense_Mutation	SNP	G	G	T			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr1:55472846G>T	ENST00000371265.4	+	3	703	c.449G>T	c.(448-450)gGc>gTc	p.G150V		NM_057176.2	NP_476517.1	Q8WZ55	BSND_HUMAN	barttin CLCNK-type chloride channel accessory beta subunit	150					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride channel activity (GO:0005254)|chloride channel regulator activity (GO:0017081)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						GGAGAAGGTGGCCCTGGCGAC	0.612																																					Ovarian(191;1657 2078 22894 42033 48899)											0													91	82	85					1																	55472846		2203	4300	6503	SO:0001583	missense	7809			AY034632	CCDS602.1	1p32.3	2014-06-17	2014-06-17		ENSG00000162399	ENSG00000162399			16512	protein-coding gene	gene with protein product		606412	"deafness, autosomal recessive 73", "Bartter syndrome, infantile, with sensorineural deafness (Barttin)"	DFNB73		11687798, 11734858, 19646679	Standard	NM_057176		Approved	BART	uc001cye.3	Q8WZ55	OTTHUMG00000008112	ENST00000371265.4:c.449G>T	chr1.hg19:g.55472846G>T	ENSP00000360312:p.Gly150Val		Q6NT28	Missense_Mutation	SNP	ENST00000371265.4	hg19	CCDS602.1	.	.	.	.	.	.	.	.	.	.	G	13.70	2.315138	0.40996	.	.	ENSG00000162399	ENST00000371265	T	0.66280	-0.2	3.69	2.76	0.32466	.	0.936787	0.08850	N	0.884550	T	0.63200	0.2491	L	0.57536	1.79	0.19300	N	0.999979	P	0.48016	0.904	P	0.49887	0.625	T	0.53648	-0.8409	10	0.56958	D	0.05	-8.1298	4.0436	0.09763	0.1256:0.0:0.6418:0.2326	.	150	Q8WZ55	BSND_HUMAN	V	150	ENSP00000360312:G150V	ENSP00000360312:G150V	G	+	2	0	BSND	55245434	0.034000	0.19679	0.074000	0.20217	0.134000	0.20937	1.699000	0.37804	1.100000	0.41517	0.478000	0.44815	GGC		0.612	BSND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022213.4	NM_057176		T	55472846	G	T	55472846	3	4	781	1	0	0	0	0	1	0	0	0	1533	1203	42	4	459	4	BSND	1	55472846	Missense_Mutation	SNP	G	TCGA-PJ-A8JU-01A-11D-A35Z-10	18699637	55472846	193777775	4	46162											
PYGO2	90780	hgsc.bcm.edu	37	1	154931749	154931749	+	Missense_Mutation	SNP	G	G	A	rs267598059		TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr1:154931749G>A	ENST00000368457.2	-	3	898	c.727C>T	c.(727-729)Ccc>Tcc	p.P243S	PYGO2_ENST00000368456.1_Missense_Mutation_p.P206S|PYGO2_ENST00000483463.1_5'Flank|RP11-307C12.12_ENST00000605085.1_RNA	NM_138300.3	NP_612157.1	Q9BRQ0	PYGO2_HUMAN	pygopus family PHD finger 2	243	Pro-rich.				brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|developmental growth (GO:0048589)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|mammary gland development (GO:0030879)|palate development (GO:0060021)|positive regulation of chromatin binding (GO:0035563)|post-embryonic development (GO:0009791)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|spermatid nucleus differentiation (GO:0007289)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone acetyltransferase regulator activity (GO:0035034)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1)	10	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CCAGGAAAGGGACTTGTGTTA	0.612																																					NSCLC(87;357 1460 1955 21029 23522)											0													22	23	23					1																	154931749		2203	4300	6503	SO:0001583	missense	90780			BC006132	CCDS1075.1	1q22	2013-10-09	2013-10-09		ENSG00000163348	ENSG00000163348		"Zinc fingers, PHD-type"	30257	protein-coding gene	gene with protein product		606903	"pygopus homolog 2 (Drosophila)"			11988739	Standard	NM_138300		Approved		uc001fft.3	Q9BRQ0	OTTHUMG00000037370	ENST00000368457.2:c.727C>T	chr1.hg19:g.154931749G>A	ENSP00000357442:p.Pro243Ser		Q8WYZ4|Q96CY2	Missense_Mutation	SNP	ENST00000368457.2	hg19	CCDS1075.1	.	.	.	.	.	.	.	.	.	.	G	12.01	1.810294	0.32053	.	.	ENSG00000163348	ENST00000368457;ENST00000368456	T;T	0.52754	0.65;0.71	4.72	4.72	0.59763	.	0.379769	0.24652	N	0.036709	T	0.35128	0.0921	N	0.24115	0.695	0.54753	D	0.999983	D	0.89917	1.0	D	0.79108	0.992	T	0.21348	-1.0248	10	0.02654	T	1	-4.499	14.7378	0.69430	0.0:0.0:1.0:0.0	.	243	Q9BRQ0	PYGO2_HUMAN	S	243;206	ENSP00000357442:P243S;ENSP00000357441:P206S	ENSP00000357441:P206S	P	-	1	0	PYGO2	153198373	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	4.079000	0.57613	2.454000	0.82982	0.462000	0.41574	CCC		0.612	PYGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090949.1	NM_138300		A	154931749	G	A	154931749	3	1	781	1	0	0	0	0	1	0	0	0	12870	1174	41	2	497	2	PYGO2	1	154931749	Missense_Mutation	SNP	G	TCGA-PJ-A8JU-01A-11D-A35Z-10	99458903	154931749	94318872	5	46163											
ARHGAP30	257106	hgsc.bcm.edu	37	1	161018086	161018086	+	Missense_Mutation	SNP	A	A	C			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr1:161018086A>C	ENST00000368013.3	-	12	3045	c.2725T>G	c.(2725-2727)Tgt>Ggt	p.C909G	ARHGAP30_ENST00000368015.1_Missense_Mutation_p.C732G|USF1_ENST00000368021.3_5'Flank|USF1_ENST00000435396.1_5'Flank|ARHGAP30_ENST00000368016.3_Missense_Mutation_p.C698G	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	909					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GGGCATAGACAGCCGTCTGGA	0.617																																																0													45	41	42					1																	161018086		2203	4300	6503	SO:0001583	missense	257106			AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"Rho GTPase activating proteins"	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.2725T>G	chr1.hg19:g.161018086A>C	ENSP00000356992:p.Cys909Gly		Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Missense_Mutation	SNP	ENST00000368013.3	hg19	CCDS30918.1	.	.	.	.	.	.	.	.	.	.	A	4.313	0.057320	0.08339	.	.	ENSG00000186517	ENST00000368016;ENST00000368013;ENST00000368015	T;T;T	0.34859	2.79;2.87;1.34	4.61	3.47	0.39725	.	0.621137	0.14461	N	0.318218	T	0.12475	0.0303	L	0.56769	1.78	0.09310	N	1	B;B	0.30482	0.281;0.0	B;B	0.24701	0.055;0.001	T	0.24048	-1.0171	10	0.14656	T	0.56	.	8.9598	0.35840	0.5893:0.4107:0.0:0.0	.	909;698	Q7Z6I6;Q7Z6I6-2	RHG30_HUMAN;.	G	698;909;732	ENSP00000356995:C698G;ENSP00000356992:C909G;ENSP00000356994:C732G	ENSP00000356992:C909G	C	-	1	0	ARHGAP30	159284710	0.016000	0.18221	0.054000	0.19295	0.338000	0.28826	1.132000	0.31418	0.613000	0.30089	0.374000	0.22700	TGT		0.617	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077090.2	NM_181720		C	161018086	A	C	161018086	3	2	781	1	0	0	0	0	1	0	0	0	879	188	7	5	584	5	ARHGAP30	1	161018086	Missense_Mutation	SNP	A	TCGA-PJ-A8JU-01A-11D-A35Z-10	6086337	161018086	88232535	6	46164											
MTR	4548	hgsc.bcm.edu	37	1	236979823	236979823	+	Silent	SNP	G	G	A			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr1:236979823G>A	ENST00000366577.5	+	8	1138	c.744G>A	c.(742-744)gtG>gtA	p.V248V	MTR_ENST00000418145.2_3'UTR|MTR_ENST00000535889.1_Silent_p.V248V	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	248	Hcy-binding. {ECO:0000255|PROSITE- ProRule:PRU00333}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	TCATCAGCGTGTCTCATGGAG	0.463																																																0													154	148	150					1																	236979823		2203	4299	6502	SO:0001819	synonymous_variant	4548			U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.744G>A	chr1.hg19:g.236979823G>A			A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Silent	SNP	ENST00000366577.5	hg19	CCDS1614.1																																																																																				0.463	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	NM_000254		A	236979823	G	A	236979823	2	1	781	1	0	0	0	0	0	0	0	1	9960	1364	48	2		2	MTR	1	236979823	Silent	SNP	G	TCGA-PJ-A8JU-01A-11D-A35Z-10	75961737	236979823	12270798	7	46165											
SMC6	79677	hgsc.bcm.edu	37	2	17865003	17865003	+	Nonsense_Mutation	SNP	A	A	C			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr2:17865003A>C	ENST00000448223.2	-	24	2975	c.2706T>G	c.(2704-2706)taT>taG	p.Y902*	SMC6_ENST00000381272.4_Nonsense_Mutation_p.Y928*|SMC6_ENST00000402989.1_Nonsense_Mutation_p.Y902*|SMC6_ENST00000351948.4_Nonsense_Mutation_p.Y902*	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	902					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CCAGATCAAGATAGGTCTCTC	0.313																																																0													75	82	79					2																	17865003		2202	4298	6500	SO:0001587	stop_gained	79677			AJ310551	CCDS1690.1	2p24.3	2008-02-05	2006-07-06	2006-07-06	ENSG00000163029	ENSG00000163029		"Structural maintenance of chromosomes proteins"	20466	protein-coding gene	gene with protein product		609387	"SMC6 structural maintenance of chromosomes 6-like 1 (yeast)"	SMC6L1		11230166	Standard	NM_024624		Approved	FLJ22116	uc002rcn.3	Q96SB8	OTTHUMG00000090675	ENST00000448223.2:c.2706T>G	chr2.hg19:g.17865003A>C	ENSP00000404092:p.Tyr902*		A8K8Q6|D6W518|Q05BV4|Q9H0X3|Q9H6M0	Nonsense_Mutation	SNP	ENST00000448223.2	hg19	CCDS1690.1	.	.	.	.	.	.	.	.	.	.	A	41	9.120162	0.99071	.	.	ENSG00000163029	ENST00000448223;ENST00000351948;ENST00000381272;ENST00000402989	.	.	.	6.02	-0.274	0.12910	.	0.057067	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	10.3803	0.44108	0.6665:0.0:0.3335:0.0	.	.	.	.	X	902;902;928;902	.	ENSP00000323439:Y902X	Y	-	3	2	SMC6	17728484	0.997000	0.39634	1.000000	0.80357	0.996000	0.88848	0.364000	0.20325	0.157000	0.19338	0.533000	0.62120	TAT		0.313	SMC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207359.1	NM_024624		C	17865003	A	C	17865003	4	2	781	1	0	0	0	0	0	1	0	0	14793	340	12	5	589	5	SMC6	2	17865003	Nonsense_Mutation	SNP	A	TCGA-PJ-A8JU-01A-11D-A35Z-10		17865003	225334370	8	46166											
NCOA1	8648	hgsc.bcm.edu	37	2	24930361	24930361	+	Silent	SNP	T	T	G			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr2:24930361T>G	ENST00000406961.1	+	13	2674	c.2022T>G	c.(2020-2022)ggT>ggG	p.G674G	NCOA1_ENST00000288599.5_Silent_p.G674G|NCOA1_ENST00000348332.3_Silent_p.G674G|NCOA1_ENST00000407230.1_Silent_p.G523G|NCOA1_ENST00000405141.1_Silent_p.G674G|NCOA1_ENST00000395856.3_Silent_p.G674G|NCOA1_ENST00000538539.1_Silent_p.G674G			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	674	Ser-rich.				androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|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)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|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)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTCAGGAGGTTCTTGTCCCT	0.493			T	PAX3	alveolar rhadomyosarcoma																																		Dom	yes		2	2p23	8648	nuclear receptor coactivator 1		M	0													105	104	104					2																	24930361		2203	4300	6503	SO:0001819	synonymous_variant	8648			U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.2022T>G	chr2.hg19:g.24930361T>G			O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Silent	SNP	ENST00000406961.1	hg19	CCDS1712.1																																																																																				0.493	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3	NM_147223		G	24930361	T	G	24930361	2	3	781	1	0	0	0	0	0	0	0	1	10230	1712	60	5		5	NCOA1	2	24930361	Silent	SNP	T	TCGA-PJ-A8JU-01A-11D-A35Z-10	7065358	24930361	218269012	9	46167											
NAT8	9027	hgsc.bcm.edu	37	2	73868395	73868395	+	Missense_Mutation	SNP	T	T	C			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr2:73868395T>C	ENST00000272425.3	-	2	510	c.361A>G	c.(361-363)Atg>Gtg	p.M121V		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						GCTCCTACCATGCCCACCACC	0.537																																																0													92	90	91					2																	73868395		2203	4300	6503	SO:0001583	missense	9027			AB013094	CCDS1926.1	2p13.2	2012-03-20	2008-09-24		ENSG00000144035	ENSG00000144035			18069	protein-coding gene	gene with protein product		606716	"N-acetyltransferase 8"			11397015, 9852678, 19011241	Standard	NM_003960		Approved	Hcml1, TSC501, GLA, ATase2	uc002sji.1	Q9UHE5	OTTHUMG00000129818	ENST00000272425.3:c.361A>G	chr2.hg19:g.73868395T>C	ENSP00000272425:p.Met121Val			Missense_Mutation	SNP	ENST00000272425.3	hg19	CCDS1926.1	.	.	.	.	.	.	.	.	.	.	T	4.168	0.029686	0.08101	.	.	ENSG00000144035	ENST00000272425	T	0.21191	2.02	3.86	3.86	0.44501	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.596637	0.18180	N	0.149173	T	0.15825	0.0381	L	0.33485	1.01	0.26806	N	0.969104	B	0.18610	0.029	B	0.23018	0.043	T	0.15867	-1.0422	10	0.19590	T	0.45	-0.2375	11.3146	0.49383	0.0:0.0:0.0:1.0	.	121	Q9UHE5	NAT8_HUMAN	V	121	ENSP00000272425:M121V	ENSP00000272425:M121V	M	-	1	0	NAT8	73721903	0.986000	0.35501	0.838000	0.33150	0.124000	0.20399	2.187000	0.42602	1.715000	0.51383	0.524000	0.50904	ATG		0.537	NAT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327854.1	NM_003960		C	73868395	T	C	73868395	3	2	781	1	0	0	0	0	1	0	0	0	10181	1464	51	3	326	3	NAT8	2	73868395	Missense_Mutation	SNP	T	TCGA-PJ-A8JU-01A-11D-A35Z-10	48938034	73868395	169330978	10	46168											
ACTG2	72	hgsc.bcm.edu	37	2	74129580	74129580	+	Missense_Mutation	SNP	C	C	T			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr2:74129580C>T	ENST00000409624.1	+	4	863	c.220C>T	c.(220-222)Cac>Tac	p.H74Y	ACTG2_ENST00000409731.3_Intron|ACTG2_ENST00000409918.1_Missense_Mutation_p.H74Y|ACTG2_ENST00000345517.3_Missense_Mutation_p.H74Y			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	74					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						CCCCATTGAACACGGCATCAT	0.493																																																0													145	118	127					2																	74129580		2203	4300	6503	SO:0001583	missense	72				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.220C>T	chr2.hg19:g.74129580C>T	ENSP00000386857:p.His74Tyr		B2R7E7|B4E315|D6W5H8|E9PG30|P12718|Q504R1|Q6FI22	Missense_Mutation	SNP	ENST00000409624.1	hg19	CCDS1930.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.995682	0.54147	.	.	ENSG00000163017	ENST00000345517;ENST00000409918;ENST00000442912;ENST00000409624	D;D;D;D	0.97404	-4.37;-3.46;-2.56;-4.37	3.84	3.84	0.44239	.	0.000000	0.85682	D	0.000000	D	0.98966	0.9648	H	0.97732	4.065	0.47547	D	0.999456	D;P	0.57571	0.98;0.85	D;D	0.75020	0.985;0.909	D	0.99053	1.0828	10	0.87932	D	0	.	15.0246	0.71659	0.0:1.0:0.0:0.0	.	74;74	B8ZZJ2;P63267	.;ACTH_HUMAN	Y	74	ENSP00000295137:H74Y;ENSP00000387182:H74Y;ENSP00000410020:H74Y;ENSP00000386857:H74Y	ENSP00000295137:H74Y	H	+	1	0	ACTG2	73983088	1.000000	0.71417	0.956000	0.39512	0.795000	0.44927	7.584000	0.82572	2.147000	0.66899	0.563000	0.77884	CAC		0.493	ACTG2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328086.1	NM_001615		T	74129580	C	T	74129580	3	4	781	1	0	0	0	0	1	0	0	0	197	478	17	2	226	2	ACTG2	2	74129580	Missense_Mutation	SNP	C	TCGA-PJ-A8JU-01A-11D-A35Z-10	261185	74129580	169069793	11	46169											
FMNL2	114793	hgsc.bcm.edu	37	2	153415322	153415322	+	Missense_Mutation	SNP	C	C	A			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr2:153415322C>A	ENST00000288670.9	+	5	795	c.428C>A	c.(427-429)gCa>gAa	p.A143E		NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	143	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						CTCTCATTTGCACAGTACGCG	0.368																																																0													115	114	114					2																	153415322		1886	4117	6003	SO:0001583	missense	114793			AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827			18267	protein-coding gene	gene with protein product			"formin homology 2 domain containing 2"	FHOD2			Standard	XM_005246263		Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	ENST00000288670.9:c.428C>A	chr2.hg19:g.153415322C>A	ENSP00000288670:p.Ala143Glu		B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Missense_Mutation	SNP	ENST00000288670.9	hg19	CCDS46429.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.865789	0.91511	.	.	ENSG00000157827	ENST00000288670	D	0.89485	-2.52	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.94974	0.8374	M	0.84433	2.695	0.80722	D	1	D	0.67145	0.996	D	0.78314	0.991	D	0.95164	0.8284	10	0.52906	T	0.07	.	18.421	0.90590	0.0:1.0:0.0:0.0	.	143	Q96PY5-3	.	E	143	ENSP00000288670:A143E	ENSP00000288670:A143E	A	+	2	0	FMNL2	153123568	1.000000	0.71417	0.987000	0.45799	0.976000	0.68499	7.421000	0.80204	2.335000	0.79485	0.467000	0.42956	GCA		0.368	FMNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333582.2	NM_052905		A	153415322	C	A	153415322	3	1	781	1	0	0	0	0	1	0	0	0	5954	710	25	4	446	4	FMNL2	2	153415322	Missense_Mutation	SNP	C	TCGA-PJ-A8JU-01A-11D-A35Z-10	79285742	153415322	89784051	12	46170											
HOXD4	3233	hgsc.bcm.edu	37	2	177016768	177016783	+	Frame_Shift_Del	DEL	GGATGAAGAAGGTGCA	GGATGAAGAAGGTGCA	-	rs547685014		TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	GGATGAAGAAGGTGCA	GGATGAAGAAGGTGCA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr2:177016768_177016783delGGATGAAGAAGGTGCA	ENST00000306324.3	+	1	819_834	c.407_422delGGATGAAGAAGGTGCA	c.(406-423)tggatgaagaaggtgcacfs	p.WMKKVH136fs	HOXD3_ENST00000468418.3_5'UTR|MIR10B_ENST00000385011.1_RNA	NM_014621.2	NP_055436.2	P09016	HXD4_HUMAN	homeobox D4	136					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)		GTCTACCCCTGGATGAAGAAGGTGCACGTGAATTCG	0.671																																																0																																										SO:0001589	frameshift_variant	3233				CCDS2269.1	2q31.1	2011-06-20	2005-12-22		ENSG00000170166	ENSG00000170166		"Homeoboxes / ANTP class : HOXL subclass"	5138	protein-coding gene	gene with protein product		142981	"homeo box D4"	HOX4B, HOX4		1973146, 1358459	Standard	NM_014621		Approved		uc002uks.3	P09016	OTTHUMG00000132515	ENST00000306324.3:c.407_422delGGATGAAGAAGGTGCA	chr2.hg19:g.177016768_177016783delGGATGAAGAAGGTGCA	ENSP00000302548:p.Trp136fs		B2R9R3|Q96AU0	Frame_Shift_Del	DEL	ENST00000306324.3	hg19	CCDS2269.1																																																																																				0.671	HOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255697.2			-	177016783	GGATGAAGAAGGTGCA	-	177016768	7	5	781	1	0	1	0	1	0	0	0	0	7326	1357	47	0	409	0	HOXD4	2	177016768	Frame_Shift_Del	DEL	GGATGAAGAAGGTGCA	TCGA-PJ-A8JU-01A-11D-A35Z-10	23601446	177016768	66182605	13	46171											
TTN	7273	hgsc.bcm.edu	37	2	179421832	179421832	+	Missense_Mutation	SNP	T	T	C			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr2:179421832T>C	ENST00000591111.1	-	280	83350	c.83126A>G	c.(83125-83127)aAc>aGc	p.N27709S	TTN_ENST00000342992.6_Missense_Mutation_p.N26782S|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.N20477S|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.N20410S|TTN_ENST00000460472.2_Missense_Mutation_p.N20285S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.N29350S			Q8WZ42	TITIN_HUMAN	titin	27709	Fibronectin type-III 102. {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)			GCTGACAGAGTTCTTTGAAAT	0.433																																																0													59	56	57					2																	179421832		1894	4122	6016	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.83126A>G	chr2.hg19:g.179421832T>C	ENSP00000465570:p.Asn27709Ser		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	hg19		.	.	.	.	.	.	.	.	.	.	T	14.28	2.488456	0.44249	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56444	0.46;0.46;0.46;0.46	5.81	4.59	0.56863	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.38374	0.1038	N	0.17564	0.495	0.38032	D	0.935192	B;B;B;B	0.16603	0.006;0.006;0.006;0.018	B;B;B;B	0.15870	0.014;0.014;0.014;0.014	T	0.41179	-0.9523	9	0.87932	D	0	.	13.5686	0.61832	0.0:0.0:0.1846:0.8154	.	20285;20410;20477;27709	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	26782;20285;20477;20410;20282	ENSP00000343764:N26782S;ENSP00000434586:N20285S;ENSP00000340554:N20477S;ENSP00000352154:N20410S	ENSP00000340554:N20477S	N	-	2	0	TTN	179130078	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	4.375000	0.59549	2.343000	0.79666	0.533000	0.62120	AAC		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		C	179421832	T	C	179421832	3	2	781	1	0	0	0	0	1	0	0	0	16740	1725	60	3	20062	3	TTN	2	179421832	Missense_Mutation	SNP	T	TCGA-PJ-A8JU-01A-11D-A35Z-10	2405064	179421832	63777541	14	46172											
GLS	2744	hgsc.bcm.edu	37	2	191795233	191795233	+	Missense_Mutation	SNP	T	T	C			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr2:191795233T>C	ENST00000320717.3	+	13	1754	c.1496T>C	c.(1495-1497)aTg>aCg	p.M499T	GLS_ENST00000409215.1_Missense_Mutation_p.M4T|GLS_ENST00000409626.1_Missense_Mutation_p.M70T|GLS_ENST00000409428.1_Missense_Mutation_p.M4T|GLS_ENST00000338435.4_Missense_Mutation_p.M499T	NM_014905.4	NP_055720.3	O94925	GLSK_HUMAN	glutaminase	499					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate secretion (GO:0014047)|glutamine catabolic process (GO:0006543)|neurotransmitter secretion (GO:0007269)|protein homotetramerization (GO:0051289)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|small molecule metabolic process (GO:0044281)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glutaminase activity (GO:0004359)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamine(DB00130)	ATGGGTATGATGTGCTGGTCT	0.388																																																0													153	143	146					2																	191795233		2203	4300	6503	SO:0001583	missense	2744			AB020645	CCDS2308.1, CCDS58744.1	2q32-q34	2013-01-10			ENSG00000115419	ENSG00000115419	3.5.1.2	"Ankyrin repeat domain containing"	4331	protein-coding gene	gene with protein product		138280				10048485	Standard	NM_014905		Approved	KIAA0838, GLS1	uc002usf.3	O94925	OTTHUMG00000132701	ENST00000320717.3:c.1496T>C	chr2.hg19:g.191795233T>C	ENSP00000317379:p.Met499Thr		Q9UL05|Q9UL06|Q9UL07|Q9UN40	Missense_Mutation	SNP	ENST00000320717.3	hg19	CCDS2308.1	.	.	.	.	.	.	.	.	.	.	T	14.94	2.686240	0.47991	.	.	ENSG00000115419	ENST00000320717;ENST00000338435;ENST00000409626;ENST00000457316;ENST00000409428;ENST00000409215;ENST00000412247	T;T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01;1.01;1.01	5.84	5.84	0.93424	Beta-lactamase/transpeptidase-like (1);	0.000000	0.85682	D	0.000000	T	0.45856	0.1363	L	0.51422	1.61	0.80722	D	1	B;B;B;B;B	0.33612	0.134;0.419;0.045;0.419;0.145	B;B;B;B;B	0.40101	0.137;0.319;0.097;0.319;0.139	T	0.39563	-0.9608	10	0.45353	T	0.12	-17.0749	16.2233	0.82274	0.0:0.0:0.0:1.0	.	70;499;153;499;499	B7Z2P1;A8K132;Q68D38;O94925;O94925-3	.;.;.;GLSK_HUMAN;.	T	499;499;70;70;4;4;20	ENSP00000317379:M499T;ENSP00000340689:M499T;ENSP00000386417:M70T;ENSP00000395596:M70T;ENSP00000387177:M4T;ENSP00000387135:M4T;ENSP00000403329:M20T	ENSP00000317379:M499T	M	+	2	0	GLS	191503478	1.000000	0.71417	1.000000	0.80357	0.654000	0.38779	8.040000	0.89188	2.243000	0.73865	0.482000	0.46254	ATG		0.388	GLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255999.2			C	191795233	T	C	191795233	3	2	781	1	0	0	0	0	1	0	0	0	6465	1464	51	3	1546	3	GLS	2	191795233	Missense_Mutation	SNP	T	TCGA-PJ-A8JU-01A-11D-A35Z-10	12373401	191795233	51404140	15	46173											
PTPRN	5798	hgsc.bcm.edu	37	2	220173977	220173977	+	Silent	SNP	G	G	A			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr2:220173977G>A	ENST00000295718.2	-	1	318	c.78C>T	c.(76-78)agC>agT	p.S26S	PTPRN_ENST00000409251.3_Silent_p.S26S|PTPRN_ENST00000423636.2_5'Flank	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	26					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)		CCGGGCGGCTGCTCAGCAGCA	0.751																																																0													3	4	3					2																	220173977		1857	3826	5683	SO:0001819	synonymous_variant	5798				CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.78C>T	chr2.hg19:g.220173977G>A			B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Silent	SNP	ENST00000295718.2	hg19	CCDS2440.1																																																																																				0.751	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2			A	220173977	G	A	220173977	2	1	781	1	0	0	0	0	0	0	0	1	12813	1310	46	2		2	PTPRN	2	220173977	Silent	SNP	G	TCGA-PJ-A8JU-01A-11D-A35Z-10	28378744	220173977	23025396	16	46174											
SERPINE2	5270	hgsc.bcm.edu	37	2	224856616	224856616	+	Missense_Mutation	SNP	A	A	G			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr2:224856616A>G	ENST00000258405.4	-	4	831	c.589T>C	c.(589-591)Ttc>Ctc	p.F197L	SERPINE2_ENST00000409304.1_Missense_Mutation_p.F197L|SERPINE2_ENST00000447280.2_Missense_Mutation_p.F209L|SERPINE2_ENST00000409840.3_Missense_Mutation_p.F197L	NM_001136528.1|NM_006216.3	NP_001130000.1|NP_006207.1	P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	197					blood coagulation (GO:0007596)|cerebellar granular layer morphogenesis (GO:0021683)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|innervation (GO:0060384)|long-term synaptic potentiation (GO:0060291)|mating plug formation (GO:0042628)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein processing (GO:0010955)|negative regulation of proteolysis (GO:0045861)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of sodium ion transport (GO:0010766)|positive regulation of astrocyte differentiation (GO:0048711)|regulation of cell migration (GO:0030334)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of timing of cell differentiation (GO:0048505)|secretion by cell (GO:0032940)|secretory granule organization (GO:0033363)|seminal vesicle epithelium development (GO:0061108)	cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|neuromuscular junction (GO:0031594)|platelet alpha granule (GO:0031091)|vesicle (GO:0031982)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TCGGGTTGGAACCGTGATTTC	0.517																																																0													160	122	135					2																	224856616		2203	4300	6503	SO:0001583	missense	5270			M17783	CCDS2460.1, CCDS46525.1, CCDS46526.1	2q36.1	2014-02-18	2005-08-18		ENSG00000135919	ENSG00000135919		"Serine (or cysteine) peptidase inhibitors"	8951	protein-coding gene	gene with protein product	"glial-derived nexin 1"	177010	"serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2"	PI7		7665170, 24172014	Standard	NM_006216		Approved	PN1, GDN, PNI, nexin	uc002vnu.2	P07093	OTTHUMG00000133163	ENST00000258405.4:c.589T>C	chr2.hg19:g.224856616A>G	ENSP00000258405:p.Phe197Leu		B2R6A4|B4DIF2|Q53S15|Q5D0C4	Missense_Mutation	SNP	ENST00000258405.4	hg19	CCDS2460.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.483952	0.84854	.	.	ENSG00000135919	ENST00000409304;ENST00000258405;ENST00000409840;ENST00000447280;ENST00000432738	T;D;T;T;T	0.94897	-0.02;-3.55;-0.02;-0.02;-0.02	5.8	5.8	0.92144	Serpin domain (3);	0.000000	0.85682	D	0.000000	D	0.96679	0.8916	H	0.95780	3.72	0.80722	D	1	B;B	0.27229	0.172;0.172	B;B	0.35240	0.198;0.198	D	0.96028	0.9014	10	0.87932	D	0	.	16.1506	0.81618	1.0:0.0:0.0:0.0	.	209;197	B4DIF2;P07093	.;GDN_HUMAN	L	197;197;197;209;197	ENSP00000386412:F197L;ENSP00000258405:F197L;ENSP00000386969:F197L;ENSP00000415786:F209L;ENSP00000408452:F197L	ENSP00000258405:F197L	F	-	1	0	SERPINE2	224564860	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	8.890000	0.92477	2.206000	0.71126	0.528000	0.53228	TTC		0.517	SERPINE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256865.2	NM_006216		G	224856616	A	G	224856616	3	3	781	1	0	0	0	0	1	0	0	0	14118	43	2	3	631	3	SERPINE2	2	224856616	Missense_Mutation	SNP	A	TCGA-PJ-A8JU-01A-11D-A35Z-10	4682639	224856616	18342757	17	46175											
KBTBD5	131377	hgsc.bcm.edu	37	3	42730387	42730387	+	Missense_Mutation	SNP	A	A	G			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr3:42730387A>G	ENST00000287777.4	+	4	1548	c.1448A>G	c.(1447-1449)tAt>tGt	p.Y483C		NM_152393.2	NP_689606.2	Q2TBA0	KLH40_HUMAN	kelch-like family member 40	483					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)											ATGTGCGTCTATGACCCCAAG	0.612																																																0													69	71	70					3																	42730387		2203	4300	6503	SO:0001583	missense	131377			AK056577	CCDS2703.1	3p21.33	2013-07-30	2013-02-22	2013-01-08	ENSG00000157119	ENSG00000157119		"Kelch-like", "BTB/POZ domain containing"	30372	protein-coding gene	gene with protein product	"sarcosynapsin", "nemaline myopathy type 8"	615340	"kelch repeat and BTB (POZ) domain containing 5", "kelch-like 40 (Drosophila)"	KBTBD5		23746549	Standard	NM_152393		Approved	SRYP, NEM8	uc003clv.1	Q2TBA0	OTTHUMG00000133045	ENST00000287777.4:c.1448A>G	chr3.hg19:g.42730387A>G	ENSP00000287777:p.Tyr483Cys		Q86SI1|Q96MR2	Missense_Mutation	SNP	ENST00000287777.4	hg19	CCDS2703.1	.	.	.	.	.	.	.	.	.	.	a	19.17	3.775461	0.70107	.	.	ENSG00000157119	ENST00000287777;ENST00000452129	D	0.87966	-2.32	3.81	3.81	0.43845	Kelch-type beta propeller (1);	0.261096	0.39475	N	0.001341	D	0.96012	0.8701	H	0.98786	4.33	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97162	0.9838	10	0.87932	D	0	.	13.1169	0.59305	1.0:0.0:0.0:0.0	.	483	Q2TBA0	KBTB5_HUMAN	C	483;228	ENSP00000287777:Y483C	ENSP00000287777:Y483C	Y	+	2	0	KBTBD5	42705391	1.000000	0.71417	0.984000	0.44739	0.956000	0.61745	8.989000	0.93506	1.769000	0.52152	0.353000	0.21931	TAT		0.612	KLHL40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256651.1	NM_152393		G	42730387	A	G	42730387	3	3	781	1	0	0	0	0	1	0	0	0	7998	449	16	3	1462	3	KBTBD5	3	42730387	Missense_Mutation	SNP	A	TCGA-PJ-A8JU-01A-11D-A35Z-10		42730387	155292043	18	46176											
C3orf54	7318	hgsc.bcm.edu	37	3	49841865	49841865	+	IGR	SNP	C	C	T			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr3:49841865C>T	ENST00000333486.3	-	0	3299				MIR5193_ENST00000584510.1_RNA|FAM212A_ENST00000333323.4_Silent_p.G103G	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7						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)		AGGTGTCAGGCAGCACATGGC	0.632																																																0													93	89	91					3																	49841865		2203	4300	6503	SO:0001628	intergenic_variant	389119			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		chr3.hg19:g.49841865C>T			Q9BRB2	Silent	SNP	ENST00000333486.3	hg19	CCDS2805.1																																																																																				0.632	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350503.1	NM_003335		T	49841865	C	T	49841865	1	4	781	0	1	0	0	0	0	0	0	0	2235	697	25	2		2	C3orf54	3	49841865	IGR	SNP	C	TCGA-PJ-A8JU-01A-11D-A35Z-10	7111478	49841865	148180565	19	46177											
TKT	7086	hgsc.bcm.edu	37	3	53264594	53264594	+	Missense_Mutation	SNP	C	C	T			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr3:53264594C>T	ENST00000462138.1	-	8	1074	c.986G>A	c.(985-987)gGc>gAc	p.G329D	TKT_ENST00000423516.1_Missense_Mutation_p.G337D|TKT_ENST00000296289.6_Missense_Mutation_p.G282D|TKT_ENST00000461139.1_5'UTR|TKT_ENST00000423525.2_Missense_Mutation_p.G329D			P29401	TKT_HUMAN	transketolase	329					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)	p.K327fs*1(1)		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)		ACTGGCATGGCCCAGCTTGGC	0.602																																					Colon(133;1506 2347 35238 42177)											1	Deletion - Frameshift(1)	lung(1)											83	77	79					3																	53264594		2203	4300	6503	SO:0001583	missense	7086				CCDS2871.1, CCDS58834.1	3p14.3	2008-07-31	2008-07-31		ENSG00000163931	ENSG00000163931	2.2.1.1		11834	protein-coding gene	gene with protein product	"Wernicke-Korsakoff syndrome"	606781				1567394	Standard	NM_001064		Approved		uc011beq.2	P29401	OTTHUMG00000158192	ENST00000462138.1:c.986G>A	chr3.hg19:g.53264594C>T	ENSP00000417773:p.Gly329Asp		A8K089|B4DE31|E7EPA7|Q8TBA3|Q96HH3	Missense_Mutation	SNP	ENST00000462138.1	hg19	CCDS2871.1	.	.	.	.	.	.	.	.	.	.	C	35	5.464525	0.96257	.	.	ENSG00000163931	ENST00000462138;ENST00000423525;ENST00000423516;ENST00000296289;ENST00000414014	D;D;D;D	0.91792	-2.91;-2.91;-2.91;-2.91	5.69	5.69	0.88448	Transketolase-like, pyrimidine-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.97729	0.9255	H	0.96943	3.91	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	0.98576	1.0648	10	0.87932	D	0	0.4241	19.8045	0.96525	0.0:1.0:0.0:0.0	.	337;246;329	E7EPA7;B3KSI4;P29401	.;.;TKT_HUMAN	D	329;329;337;282;163	ENSP00000417773:G329D;ENSP00000405455:G329D;ENSP00000391481:G337D;ENSP00000296289:G282D	ENSP00000296289:G282D	G	-	2	0	TKT	53239634	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.676000	0.91093	0.655000	0.94253	GGC		0.602	TKT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350356.1			T	53264594	C	T	53264594	3	4	781	1	0	0	0	0	1	0	0	0	15939	739	26	2	913	2	TKT	3	53264594	Missense_Mutation	SNP	C	TCGA-PJ-A8JU-01A-11D-A35Z-10	3422729	53264594	144757836	20	46178											
GOLGB1	2804	hgsc.bcm.edu	37	3	121417110	121417110	+	Missense_Mutation	SNP	G	G	C			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr3:121417110G>C	ENST00000340645.5	-	13	2370	c.2245C>G	c.(2245-2247)Ctt>Gtt	p.L749V	GOLGB1_ENST00000393667.3_Missense_Mutation_p.L754V	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	749					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TGAGAGAGAAGCTGGTCTCTT	0.418																																																0													136	130	132					3																	121417110		2203	4299	6502	SO:0001583	missense	2804			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.2245C>G	chr3.hg19:g.121417110G>C	ENSP00000341848:p.Leu749Val		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	hg19	CCDS3004.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.27|11.27	1.587926|1.587926	0.28268|0.28268	.|.	.|.	ENSG00000173230|ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517;ENST00000426235|ENST00000489400	T;T;T|.	0.35421|.	1.94;1.94;1.31|.	5.72|5.72	4.83|4.83	0.62350|0.62350	.|.	0.118223|.	0.38436|.	N|.	0.001690|.	T|T	0.57829|0.57829	0.2080|0.2080	M|M	0.69823|0.69823	2.125|2.125	0.21184|0.21184	N|N	0.999765|0.999765	D;B;D;D;D|.	0.76494|.	0.999;0.01;0.998;0.998;0.998|.	D;B;D;D;D|.	0.83275|.	0.991;0.022;0.996;0.99;0.941|.	T|T	0.51741|0.51741	-0.8667|-0.8667	10|5	0.41790|.	T|.	0.15|.	.|.	12.8931|12.8931	0.58082|0.58082	0.0:0.3132:0.6868:0.0|0.0:0.3132:0.6868:0.0	.|.	674;713;754;754;749|.	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789|.	.;.;.;.;GOGB1_HUMAN|.	V|R	749;754;713;561|619	ENSP00000341848:L749V;ENSP00000377275:L754V;ENSP00000418231:L713V|.	ENSP00000341848:L749V|.	L|S	-|-	1|3	0|2	GOLGB1|GOLGB1	122899800|122899800	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.805000|0.805000	0.45488|0.45488	3.253000|3.253000	0.51469|0.51469	1.381000|1.381000	0.46364|0.46364	0.655000|0.655000	0.94253|0.94253	CTT|AGC		0.418	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		C	121417110	G	C	121417110	3	2	781	1	0	0	0	0	1	0	0	0	6567	971	34	4	7574	4	GOLGB1	3	121417110	Missense_Mutation	SNP	G	TCGA-PJ-A8JU-01A-11D-A35Z-10	68152516	121417110	76605320	21	46179											
STAG1	10274	hgsc.bcm.edu	37	3	136096520	136096520	+	Silent	SNP	A	A	G			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr3:136096520A>G	ENST00000383202.2	-	23	2608	c.2352T>C	c.(2350-2352)aaT>aaC	p.N784N	STAG1_ENST00000236698.5_Silent_p.N784N|STAG1_ENST00000536929.1_Silent_p.N368N|STAG1_ENST00000434713.2_Silent_p.N558N	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	784					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)			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						TCACTGGAGTATTAACATTAG	0.343																																																0													70	69	69					3																	136096520		2203	4300	6503	SO:0001819	synonymous_variant	10274			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.2352T>C	chr3.hg19:g.136096520A>G			O00539|Q6P275	Silent	SNP	ENST00000383202.2	hg19	CCDS3090.1																																																																																				0.343	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	NM_005862		G	136096520	A	G	136096520	2	3	781	1	0	0	0	0	0	0	0	1	15247	446	16	3		3	STAG1	3	136096520	Silent	SNP	A	TCGA-PJ-A8JU-01A-11D-A35Z-10	14679410	136096520	61925910	22	46180											
PARL	55486	hgsc.bcm.edu	37	3	183560125	183560125	+	Missense_Mutation	SNP	G	G	C			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr3:183560125G>C	ENST00000317096.4	-	6	778	c.718C>G	c.(718-720)Ctg>Gtg	p.L240V	PARL_ENST00000435888.1_Intron|PARL_ENST00000311101.5_Intron	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	presenilin associated, rhomboid-like	240					membrane protein proteolysis (GO:0033619)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|proteolysis (GO:0006508)|regulation of protein targeting to mitochondrion (GO:1903214)|regulation of reactive oxygen species metabolic process (GO:2000377)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TCTTGACCCAGAATGTTCACT	0.423																																																0													166	159	162					3																	183560125		2203	4300	6503	SO:0001583	missense	55486			AF116692	CCDS3248.1, CCDS33897.1	3q27.3	2008-02-05		2006-02-28	ENSG00000175193	ENSG00000175193			18253	protein-coding gene	gene with protein product	"rhomboid 7 homolog 1 (Drosophila)"	607858		PSARL			Standard	XM_005247587		Approved	PRO2207, PSARL1, RHBDS1	uc003fmd.3	Q9H300	OTTHUMG00000156890	ENST00000317096.4:c.718C>G	chr3.hg19:g.183560125G>C	ENSP00000325421:p.Leu240Val		Q96CQ4|Q9BTJ6|Q9P1E3	Missense_Mutation	SNP	ENST00000317096.4	hg19	CCDS3248.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	17.77|17.77|17.77	3.470034|3.470034|3.470034	0.63625|0.63625|0.63625	.|.|.	.|.|.	ENSG00000175193|ENSG00000175193|ENSG00000175193	ENST00000418450|ENST00000317096;ENST00000450375|ENST00000417784	.|T;T|.	.|0.15718|.	.|2.4;2.4|.	5.32|5.32|5.32	4.43|4.43|4.43	0.53597|0.53597|0.53597	.|Peptidase S54, rhomboid domain (1);|.	.|0.080223|.	.|0.52532|.	.|D|.	.|0.000062|.	T|T|T	0.75583|0.75583|0.75583	0.3869|0.3869|0.3869	M|M|M	0.81802|0.81802|0.81802	2.56|2.56|2.56	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|P|.	.|0.36712|.	.|0.566|.	.|P|.	.|0.51055|.	.|0.657|.	T|T|T	0.76895|0.76895|0.76895	-0.2790|-0.2790|-0.2790	5|10|5	.|0.45353|.	.|T|.	.|0.12|.	-24.5427|-24.5427|-24.5427	13.7302|13.7302|13.7302	0.62783|0.62783|0.62783	0.0744:0.0:0.9256:0.0|0.0744:0.0:0.9256:0.0|0.0744:0.0:0.9256:0.0	.|.|.	.|240|.	.|Q9H300|.	.|PARL_HUMAN|.	L|V|C	6|240;20|31	.|ENSP00000325421:L240V;ENSP00000402689:L20V|.	.|ENSP00000325421:L240V|.	F|L|S	-|-|-	3|1|2	2|2|0	PARL|PARL|PARL	185042819|185042819|185042819	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	2.485000|2.485000|2.485000	0.45250|0.45250|0.45250	2.653000|2.653000|2.653000	0.90120|0.90120|0.90120	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	TTC|CTG|TCT		0.423	PARL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346465.1	NM_018622		C	183560125	G	C	183560125	3	2	781	1	0	0	0	0	1	0	0	0	11453	933	33	4	441	4	PARL	3	183560125	Missense_Mutation	SNP	G	TCGA-PJ-A8JU-01A-11D-A35Z-10	47463605	183560125	14462305	23	46181											
ATOH1	474	hgsc.bcm.edu	37	4	94750807	94750807	+	Missense_Mutation	SNP	T	T	C			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr4:94750807T>C	ENST00000306011.3	+	1	766	c.730T>C	c.(730-732)Tat>Cat	p.Y244H		NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN	atonal homolog 1 (Drosophila)	244					auditory receptor cell fate determination (GO:0042668)|auditory receptor cell fate specification (GO:0042667)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|cerebral cortex development (GO:0021987)|inner ear morphogenesis (GO:0042472)|negative regulation of apoptotic process (GO:0043066)|neuron migration (GO:0001764)|positive regulation of auditory receptor cell differentiation (GO:0045609)|positive regulation of neuron differentiation (GO:0045666)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|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(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		CGCGGCCTCCTATGAAGGGGG	0.706																																																0													16	19	18					4																	94750807		2192	4287	6479	SO:0001583	missense	474			U61148	CCDS3638.1	4q22	2013-05-21			ENSG00000172238	ENSG00000172238		"Basic helix-loop-helix proteins"	797	protein-coding gene	gene with protein product		601461				8872459	Standard	NM_005172		Approved	HATH1, MATH-1, Math1, bHLHa14	uc003hta.1	Q92858	OTTHUMG00000130972	ENST00000306011.3:c.730T>C	chr4.hg19:g.94750807T>C	ENSP00000302216:p.Tyr244His		Q14CT9	Missense_Mutation	SNP	ENST00000306011.3	hg19	CCDS3638.1	.	.	.	.	.	.	.	.	.	.	T	12.29	1.894445	0.33442	.	.	ENSG00000172238	ENST00000306011	D	0.97378	-4.36	3.36	3.36	0.38483	.	0.158987	0.29964	N	0.010753	D	0.91150	0.7213	L	0.27053	0.805	0.25583	N	0.986778	B	0.31790	0.34	B	0.28011	0.085	T	0.82269	-0.0541	10	0.16896	T	0.51	-9.6261	6.9541	0.24562	0.0:0.1112:0.0:0.8888	.	244	Q92858	ATOH1_HUMAN	H	244	ENSP00000302216:Y244H	ENSP00000302216:Y244H	Y	+	1	0	ATOH1	94969830	0.585000	0.26774	0.999000	0.59377	0.311000	0.27955	0.000000	0.12993	1.788000	0.52465	0.386000	0.25728	TAT		0.706	ATOH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253585.1	NM_005172		C	94750807	T	C	94750807	3	2	781	1	0	0	0	0	1	0	0	0	1112	1522	53	3	732	3	ATOH1	4	94750807	Missense_Mutation	SNP	T	TCGA-PJ-A8JU-01A-11D-A35Z-10		94750807	96403469	24	46182											
ANK2	287	hgsc.bcm.edu	37	4	114278777	114278777	+	Missense_Mutation	SNP	T	T	A			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr4:114278777T>A	ENST00000357077.4	+	38	9056	c.9003T>A	c.(9001-9003)agT>agA	p.S3001R	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.S2968R	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3001					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)		AACAGGAAAGTACCTTGTGGG	0.413																																																0													118	116	117					4																	114278777		2203	4300	6503	SO:0001583	missense	287			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.9003T>A	chr4.hg19:g.114278777T>A	ENSP00000349588:p.Ser3001Arg		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	hg19	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	T	15.97	2.988836	0.53934	.	.	ENSG00000145362	ENST00000357077;ENST00000264366;ENST00000505342	T;T;D	0.96427	-0.27;-0.29;-4.01	5.72	-3.25	0.05079	.	0.634983	0.15548	N	0.256573	D	0.91506	0.7318	M	0.64997	1.995	0.22266	N	0.999245	B;P	0.42203	0.001;0.773	B;B	0.33521	0.001;0.165	D	0.84583	0.0662	10	0.15499	T	0.54	.	9.5599	0.39362	0.0:0.5174:0.1142:0.3683	.	2968;3001	Q01484;Q01484-4	ANK2_HUMAN;.	R	3001;2968;11	ENSP00000349588:S3001R;ENSP00000264366:S2968R;ENSP00000422498:S11R	ENSP00000264366:S2968R	S	+	3	2	ANK2	114498226	0.000000	0.05858	0.002000	0.10522	0.488000	0.33401	-0.524000	0.06222	-0.771000	0.04608	0.533000	0.62120	AGT		0.413	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		A	114278777	T	A	114278777	3	1	781	1	0	0	0	0	1	0	0	0	621	1635	57	5	9218	5	ANK2	4	114278777	Missense_Mutation	SNP	T	TCGA-PJ-A8JU-01A-11D-A35Z-10	19527970	114278777	76875499	25	46183											
ANKRD50	57182	hgsc.bcm.edu	37	4	125590179	125590187	+	In_Frame_Del	DEL	TCAGAACCT	TCAGAACCT	-	rs551271977		TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	TCAGAACCT	TCAGAACCT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr4:125590179_125590187delTCAGAACCT	ENST00000504087.1	-	4	5282_5290	c.4245_4253delAGGTTCTGA	c.(4243-4254)gaaggttctgac>gac	p.EGS1415del	ANKRD50_ENST00000515641.1_In_Frame_Del_p.EGS1236del	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1415										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						GAAGCTAGGGTCAGAACCTTCAATCTGAA	0.383																																																0																																										SO:0001651	inframe_deletion	57182			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.4245_4253delAGGTTCTGA	chr4.hg19:g.125590179_125590187delTCAGAACCT	ENSP00000425658:p.Glu1415_Ser1417del		A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	In_Frame_Del	DEL	ENST00000504087.1	hg19	CCDS34060.1																																																																																				0.383	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337		-	125590187	TCAGAACCT	-	125590179	7	5	781	1	0	1	0	1	0	0	0	0	677	1667	58	0	40	0	ANKRD50	4	125590179	In_Frame_Del	DEL	TCAGAACCT	TCGA-PJ-A8JU-01A-11D-A35Z-10	11311402	125590179	65564097	26	46184											
GPR98	84059	hgsc.bcm.edu	37	5	90446037	90446037	+	Splice_Site	SNP	A	A	T			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr5:90446037A>T	ENST00000405460.2	+	88	18719	c.18623A>T	c.(18622-18624)gAg>gTg	p.E6208V	GPR98_ENST00000425867.2_Splice_Site_p.E1869V	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	6208					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)		GCTATGGAGGAGGTGTCTGCC	0.547																																																0													83	85	84					5																	90446037		2027	4182	6209	SO:0001630	splice_region_variant	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.18624+1A>T	chr5.hg19:g.90446037A>T			O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	hg19	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	A	19.43	3.825664	0.71143	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.35789	1.32;1.29	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.58509	0.2127	M	0.63428	1.95	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.997;0.999	T	0.56129	-0.8030	9	.	.	.	.	16.6406	0.85098	1.0:0.0:0.0:0.0	.	1869;6208;1869	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	V	6208;6208;1869	ENSP00000384582:E6208V;ENSP00000392618:E1869V	.	E	+	2	0	GPR98	90481793	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	8.730000	0.91510	2.326000	0.78906	0.533000	0.62120	GAG		0.547	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119	Missense_Mutation	T	90446037	A	T	90446037	5	4	781	1	0	0	0	0	0	0	1	0	6723	318	11	5	18973	5	GPR98	5	90446037	Splice_Site	SNP	A	TCGA-PJ-A8JU-01A-11D-A35Z-10		90446037	90469223	27	46185											
FSTL4	23105	hgsc.bcm.edu	37	5	132534854	132534854	+	Missense_Mutation	SNP	T	T	A			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr5:132534854T>A	ENST00000265342.7	-	16	2711	c.2462A>T	c.(2461-2463)aAc>aTc	p.N821I	CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	821						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCGCAGCGTGTTTTGTCTCCC	0.582																																																0													74	71	72					5																	132534854		2203	4300	6503	SO:0001583	missense	23105			AB028984	CCDS34238.1	5q31.1	2013-01-29			ENSG00000053108	ENSG00000053108		"EF-hand domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	21389	protein-coding gene	gene with protein product						10470851, 15527507	Standard	NM_015082		Approved	KIAA1061	uc003kyn.1	Q6MZW2	OTTHUMG00000162729	ENST00000265342.7:c.2462A>T	chr5.hg19:g.132534854T>A	ENSP00000265342:p.Asn821Ile		Q8TBU0|Q9UPU1	Missense_Mutation	SNP	ENST00000265342.7	hg19	CCDS34238.1	.	.	.	.	.	.	.	.	.	.	T	11.27	1.587755	0.28268	.	.	ENSG00000053108	ENST00000265342;ENST00000360575	T	0.60672	0.17	5.15	2.66	0.31614	Immunoglobulin-like (1);	0.265468	0.42548	D	0.000696	T	0.63283	0.2498	M	0.76574	2.34	0.30104	N	0.807186	P;D	0.54601	0.836;0.967	B;P	0.51229	0.366;0.663	T	0.64833	-0.6314	10	0.87932	D	0	-9.6102	8.8288	0.35072	0.0:0.1592:0.0:0.8408	.	821;470	Q6MZW2;B3KPF3	FSTL4_HUMAN;.	I	821;652	ENSP00000265342:N821I	ENSP00000265342:N821I	N	-	2	0	FSTL4	132562753	0.994000	0.37717	0.030000	0.17652	0.231000	0.25187	2.497000	0.45354	0.269000	0.21961	0.477000	0.44152	AAC		0.582	FSTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370212.1	XM_048786		A	132534854	T	A	132534854	3	1	781	1	0	0	0	0	1	0	0	0	6081	1725	60	5	70	5	FSTL4	5	132534854	Missense_Mutation	SNP	T	TCGA-PJ-A8JU-01A-11D-A35Z-10	42088817	132534854	48380406	28	46186											
PITX1	5307	hgsc.bcm.edu	37	5	134367076	134367076	+	Missense_Mutation	SNP	T	T	C			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr5:134367076T>C	ENST00000265340.7	-	2	708	c.292A>G	c.(292-294)Agc>Ggc	p.S98G	PITX1_ENST00000506438.1_Missense_Mutation_p.S98G|CTC-349C3.1_ENST00000432382.3_5'Flank	NM_002653.4	NP_002644.4	P78337	PITX1_HUMAN	paired-like homeodomain 1	98					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)		AACTGCTGGCTTGTGAAGTGC	0.647																																																0													121	93	103					5																	134367076		2203	4300	6503	SO:0001583	missense	5307			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.292A>G	chr5.hg19:g.134367076T>C	ENSP00000265340:p.Ser98Gly		A8K3M0|D3DQB0|O14677|O60425|Q9BTI5	Missense_Mutation	SNP	ENST00000265340.7	hg19	CCDS4182.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.559217	0.86335	.	.	ENSG00000069011	ENST00000265340;ENST00000506438;ENST00000507253;ENST00000502676	D;D;D;D	0.96300	-3.97;-3.97;-3.71;-3.71	4.39	4.39	0.52855	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.96303	0.8794	L	0.31371	0.925	0.80722	D	1	D	0.63046	0.992	D	0.76071	0.987	D	0.97051	0.9764	10	0.87932	D	0	.	13.9082	0.63850	0.0:0.0:0.0:1.0	.	98	P78337	PITX1_HUMAN	G	98	ENSP00000265340:S98G;ENSP00000427542:S98G;ENSP00000422908:S98G;ENSP00000423624:S98G	ENSP00000265340:S98G	S	-	1	0	PITX1	134394975	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.199000	0.72112	1.755000	0.51935	0.460000	0.39030	AGC		0.647	PITX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251195.3			C	134367076	T	C	134367076	3	2	781	1	0	0	0	0	1	0	0	0	11956	1609	56	3	660	3	PITX1	5	134367076	Missense_Mutation	SNP	T	TCGA-PJ-A8JU-01A-11D-A35Z-10	1832222	134367076	46548184	29	46187											
DPYSL3	1809	hgsc.bcm.edu	37	5	146833138	146833138	+	Missense_Mutation	SNP	C	C	A			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr5:146833138C>A	ENST00000398514.3	-	1	384	c.13G>T	c.(13-15)Ggc>Tgc	p.G5C	DPYSL3_ENST00000343218.5_Intron|DPYSL3_ENST00000534907.1_Intron	NM_001387.2	NP_001378.1	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	5					actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cell migration (GO:0030336)|negative regulation of neuron projection development (GO:0010977)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron projection development (GO:0010976)|protein homooligomerization (GO:0051260)|pyrimidine nucleobase catabolic process (GO:0006208)|response to axon injury (GO:0048678)	cell body (GO:0044297)|cytosol (GO:0005829)|extracellular space (GO:0005615)|filamentous actin (GO:0031941)|growth cone (GO:0030426)|lamellipodium (GO:0030027)	chondroitin sulfate binding (GO:0035374)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)|SH3 domain binding (GO:0017124)			breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTTCTTGCCTTGGTAGGAC	0.716																																																0													39	52	48					5																	146833138		2088	4144	6232	SO:0001583	missense	1809			D78014	CCDS43381.1, CCDS56387.1	5q32	2008-02-05							3015	protein-coding gene	gene with protein product		601168				8973361, 9115293	Standard	NM_001197294		Approved	DRP-3, ULIP, CRMP4	uc003loo.3	Q14195		ENST00000398514.3:c.13G>T	chr5.hg19:g.146833138C>A	ENSP00000381526:p.Gly5Cys		B3SXQ8|Q93012	Missense_Mutation	SNP	ENST00000398514.3	hg19	CCDS43381.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.889019	0.91814	.	.	ENSG00000113657	ENST00000398514;ENST00000512722	D;D	0.86694	-2.04;-2.16	5.22	5.22	0.72569	.	.	.	.	.	D	0.91147	0.7212	M	0.65975	2.015	0.80722	D	1	D	0.60160	0.987	P	0.58077	0.832	D	0.92147	0.5725	9	0.87932	D	0	.	15.7699	0.78162	0.0:1.0:0.0:0.0	.	5	Q14195	DPYL3_HUMAN	C	5	ENSP00000381526:G5C;ENSP00000426720:G5C	ENSP00000381526:G5C	G	-	1	0	DPYSL3	146813331	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.917000	0.56424	2.452000	0.82932	0.558000	0.71614	GGC		0.716	DPYSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373421.2	NM_001387		A	146833138	C	A	146833138	3	1	781	1	0	0	0	0	1	0	0	0	4750	681	24	4	1755	4	DPYSL3	5	146833138	Missense_Mutation	SNP	C	TCGA-PJ-A8JU-01A-11D-A35Z-10	12466062	146833138	34082122	30	46188											
CLINT1	9685	hgsc.bcm.edu	37	5	157214655	157214655	+	Silent	SNP	T	T	C			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr5:157214655T>C	ENST00000411809.2	-	12	2081	c.1877A>G	c.(1876-1878)tAa>tGa	p.*626*	CLINT1_ENST00000296951.5_Silent_p.*626*|CLINT1_ENST00000523094.1_Silent_p.*626*|CLINT1_ENST00000530742.1_Silent_p.*626*|CLINT1_ENST00000523908.1_Silent_p.*644*	NM_014666.3	NP_055481.1	Q14677	EPN4_HUMAN	clathrin interactor 1	0					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)			TACAATCTCTTATTTGCTAAA	0.398																																					Colon(22;427 587 2170 6147 14291)											0													153	147	149					5																	157214655		1885	4101	5986	SO:0001819	synonymous_variant	9685			AF434813	CCDS47330.1, CCDS56388.1, CCDS56389.1	5q33.3	2006-06-13			ENSG00000113282	ENSG00000113282			23186	protein-coding gene	gene with protein product		607265				12213833, 12429846	Standard	NM_014666		Approved	ENTH, KIAA0171, EPNR, CLINT	uc011ddv.2	Q14677	OTTHUMG00000163527	ENST00000411809.2:c.1877A>G	chr5.hg19:g.157214655T>C			B7Z6F8|D3DQJ6|Q8NAF1|Q96E05	Silent	SNP	ENST00000411809.2	hg19	CCDS47330.1																																																																																				0.398	CLINT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374001.1	NM_014666		C	157214655	T	C	157214655	2	2	781	1	0	0	0	0	0	0	0	1	3533	1761	61	3		3	CLINT1	5	157214655	Silent	SNP	T	TCGA-PJ-A8JU-01A-11D-A35Z-10	10381517	157214655	23700605	31	46189											
HTR1B	3351	hgsc.bcm.edu	37	6	78172132	78172132	+	Frame_Shift_Del	DEL	A	A	-			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr6:78172132delA	ENST00000369947.2	-	1	1358	c.989delT	c.(988-990)ttcfs	p.F331fs		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	331	Agonist binding.				adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|bone remodeling (GO:0046849)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to temperature stimulus (GO:0071502)|drinking behavior (GO:0042756)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to mineralocorticoid (GO:0051385)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Methysergide(DB00247)|Naratriptan(DB00952)|Olanzapine(DB00334)|Ondansetron(DB00904)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GATGATGAAGAAGGGTAGCCA	0.512																																																0													148	136	140					6																	78172132		2203	4300	6503	SO:0001589	frameshift_variant	3351			BC069065	CCDS4986.1	6q13	2012-08-08	2012-02-03		ENSG00000135312	ENSG00000135312		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5287	protein-coding gene	gene with protein product		182131	"5-hydroxytryptamine (serotonin) receptor 1B"			1348246, 11247661	Standard	NM_000863		Approved	S12, 5-HT1B, HTR1D2, 5-HT1DB	uc003pil.1	P28222	OTTHUMG00000015066	ENST00000369947.2:c.989delT	chr6.hg19:g.78172132delA	ENSP00000358963:p.Phe331fs		Q4VAY7	Frame_Shift_Del	DEL	ENST00000369947.2	hg19	CCDS4986.1																																																																																				0.512	HTR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041292.1	NM_000863		-	78172132	A	-	78172132	7	5	781	1	0	1	0	1	0	0	0	0	7439	246	9	0	187	0	HTR1B	6	78172132	Frame_Shift_Del	DEL	A	TCGA-PJ-A8JU-01A-11D-A35Z-10		78172132	92942935	32	46190											
PHIP	55023	hgsc.bcm.edu	37	6	79655791	79655791	+	Silent	SNP	C	C	T			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr6:79655791C>T	ENST00000275034.4	-	38	4724	c.4557G>A	c.(4555-4557)gaG>gaA	p.E1519E	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1519					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)		TAGATGGTTGCTCAGTGACAA	0.408																																																0													146	128	134					6																	79655791		2203	4300	6503	SO:0001819	synonymous_variant	55023			AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	15673	protein-coding gene	gene with protein product	"DDB1 and CUL4 associated factor 14"	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.4557G>A	chr6.hg19:g.79655791C>T			A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Silent	SNP	ENST00000275034.4	hg19	CCDS4987.1																																																																																				0.408	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			T	79655791	C	T	79655791	2	4	781	1	0	0	0	0	0	0	0	1	11844	796	28	2		2	PHIP	6	79655791	Silent	SNP	C	TCGA-PJ-A8JU-01A-11D-A35Z-10	1483659	79655791	91459276	33	46191											
MUC17	140453	hgsc.bcm.edu	37	7	100679990	100679990	+	Missense_Mutation	SNP	G	G	A			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr7:100679990G>A	ENST00000306151.4	+	3	5357	c.5293G>A	c.(5293-5295)Gag>Aag	p.E1765K		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)					ACTCAGTTCTGAGGCTAGCAC	0.498																																																0													289	302	298					7																	100679990		2203	4300	6503	SO:0001583	missense	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.5293G>A	chr7.hg19:g.100679990G>A	ENSP00000302716:p.Glu1765Lys		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	hg19	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	4.090	0.014651	0.07959	.	.	ENSG00000169876	ENST00000306151	T	0.01981	4.52	0.824	0.824	0.18818	.	.	.	.	.	T	0.01222	0.0040	L	0.27053	0.805	0.09310	N	1	P	0.48911	0.917	B	0.35899	0.213	T	0.29305	-1.0016	9	0.06891	T	0.86	.	5.0939	0.14723	0.0:0.0:1.0:0.0	.	1765	Q685J3	MUC17_HUMAN	K	1765	ENSP00000302716:E1765K	ENSP00000302716:E1765K	E	+	1	0	MUC17	100466710	0.000000	0.05858	0.006000	0.13384	0.022000	0.10575	-0.038000	0.12144	0.788000	0.33755	0.134000	0.15878	GAG		0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		A	100679990	G	A	100679990	3	1	781	1	0	0	0	0	1	0	0	0	9976	1291	45	2	5303	2	MUC17	7	100679990	Missense_Mutation	SNP	G	TCGA-PJ-A8JU-01A-11D-A35Z-10		100679990	58458673	34	46192											
CUX1	1523	hgsc.bcm.edu	37	7	101891788	101891788	+	Silent	SNP	G	G	A			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr7:101891788G>A	ENST00000292535.7	+	24	4022	c.3984G>A	c.(3982-3984)cgG>cgA	p.R1328R	CUX1_ENST00000546411.2_Silent_p.R1226R|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000556210.1_Silent_p.R1170R|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000360264.3_Silent_p.R1339R|CUX1_ENST00000549414.2_Silent_p.R1306R|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000550008.2_Silent_p.R1272R	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	1328					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						GCAGCGGCCGGGCGGCGCCCA	0.711																																																0													5	7	6					7																	101891788		2004	3805	5809	SO:0001819	synonymous_variant	1523			M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"Homeoboxes / CUT class"	2557	protein-coding gene	gene with protein product	"golgi integral membrane protein 6"	116896	"cut (Drosophila)-like 1 (CCAAT displacement protein)", "cut-like 1, CCAAT displacement protein (Drosophila)"	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.3984G>A	chr7.hg19:g.101891788G>A			B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Silent	SNP	ENST00000292535.7	hg19	CCDS5721.1																																																																																				0.711	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		A	101891788	G	A	101891788	2	1	781	1	0	0	0	0	0	0	0	1	4066	1219	43	2		2	CUX1	7	101891788	Silent	SNP	G	TCGA-PJ-A8JU-01A-11D-A35Z-10	1211798	101891788	57246875	35	46193											
ATP6V1B2	526	hgsc.bcm.edu	37	8	20069635	20069635	+	Missense_Mutation	SNP	T	T	A			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr8:20069635T>A	ENST00000276390.2	+	8	768	c.728T>A	c.(727-729)tTc>tAc	p.F243Y		NM_001693.3	NP_001684.2	P21281	VATB2_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2	243					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|ruffle (GO:0001726)	ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			endometrium(1)|kidney(2)|lung(5)|prostate(1)	9				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)	Gallium nitrate(DB05260)	ACTGCCCGGTTCTTCAAATCT	0.373																																					Pancreas(119;1230 1726 3901 4036 31644)											0													83	81	82					8																	20069635		2203	4300	6503	SO:0001583	missense	526			L35249	CCDS6014.1	8p21.3	2010-04-21	2006-01-13	2002-05-10	ENSG00000147416	ENSG00000147416	3.6.3.14	"ATPases / V-type"	854	protein-coding gene	gene with protein product		606939	"ATPase, H+ transporting, lysosomal (vacuolar proton pump), beta polypeptide, 56/58kD, isoform 2", "ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B, isoform 2"	VPP3, ATP6B2		2145275, 14580332	Standard	NM_001693		Approved	VATB, Vma2, HO57	uc003wzp.3	P21281	OTTHUMG00000131073	ENST00000276390.2:c.728T>A	chr8.hg19:g.20069635T>A	ENSP00000276390:p.Phe243Tyr		B2R5Z3|D3DSQ5|Q14544|Q15859|Q96IR0	Missense_Mutation	SNP	ENST00000276390.2	hg19	CCDS6014.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.632303	0.87660	.	.	ENSG00000147416	ENST00000276390;ENST00000542368	T	0.81415	-1.49	4.35	4.35	0.52113	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);	0.097712	0.64402	D	0.000001	T	0.79627	0.4478	L	0.52126	1.63	0.80722	D	1	P	0.35872	0.525	B	0.43575	0.424	T	0.79988	-0.1571	10	0.46703	T	0.11	-15.7153	12.8046	0.57605	0.0:0.0:0.0:1.0	.	243	P21281	VATB2_HUMAN	Y	243;117	ENSP00000276390:F243Y	ENSP00000276390:F243Y	F	+	2	0	ATP6V1B2	20113915	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.790000	0.85794	1.947000	0.56498	0.533000	0.62120	TTC		0.373	ATP6V1B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253732.1	NM_001693		A	20069635	T	A	20069635	3	1	781	1	0	0	0	0	1	0	0	0	1179	1783	62	5	758	5	ATP6V1B2	8	20069635	Missense_Mutation	SNP	T	TCGA-PJ-A8JU-01A-11D-A35Z-10		20069635	126294387	36	46194											
MYBL1	4603	hgsc.bcm.edu	37	8	67514696	67514696	+	Missense_Mutation	SNP	C	C	T			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr8:67514696C>T	ENST00000522677.3	-	2	493	c.83G>A	c.(82-84)gGa>gAa	p.G28E	MYBL1_ENST00000517885.1_Missense_Mutation_p.G28E|MYBL1_ENST00000524176.2_Missense_Mutation_p.G28E	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	28					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)			TTTCTTCAGTCCTTTTTGTTG	0.343																																																0													172	162	166					8																	67514696		1848	4099	5947	SO:0001583	missense	4603			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.83G>A	chr8.hg19:g.67514696C>T	ENSP00000429633:p.Gly28Glu		E7EW29|Q495F9	Missense_Mutation	SNP	ENST00000522677.3	hg19	CCDS47867.1	.	.	.	.	.	.	.	.	.	.	C	12.41	1.928320	0.34002	.	.	ENSG00000185697	ENST00000522677;ENST00000517885;ENST00000524176	T;T;T	0.17054	2.81;2.33;2.3	5.55	4.67	0.58626	.	0.265955	0.41500	D	0.000876	T	0.18257	0.0438	L	0.43152	1.355	0.38359	D	0.944558	B;D;B	0.59767	0.049;0.986;0.126	B;P;B	0.48304	0.027;0.573;0.04	T	0.03673	-1.1014	10	0.02654	T	1	-9.9575	15.9114	0.79475	0.1363:0.8637:0.0:0.0	.	28;28;28	Q495F9;Q495G0;P10243	.;.;MYBA_HUMAN	E	28	ENSP00000429633:G28E;ENSP00000428265:G28E;ENSP00000428011:G28E	ENSP00000428265:G28E	G	-	2	0	MYBL1	67677250	0.974000	0.33945	1.000000	0.80357	0.995000	0.86356	2.102000	0.41796	1.314000	0.45095	0.655000	0.94253	GGA		0.343	MYBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379221.3	XM_034274		T	67514696	C	T	67514696	3	4	781	1	0	0	0	0	1	0	0	0	10011	855	30	2	2235	2	MYBL1	8	67514696	Missense_Mutation	SNP	C	TCGA-PJ-A8JU-01A-11D-A35Z-10	47445061	67514696	78849326	37	46195											
NCOA2	10499	hgsc.bcm.edu	37	8	71056986	71056986	+	Silent	SNP	A	A	G			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr8:71056986A>G	ENST00000452400.2	-	13	2884	c.2703T>C	c.(2701-2703)ccT>ccC	p.P901P	NCOA2_ENST00000267974.4_Intron	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	901					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)			TTGGTGGGAAAGGTCCAGCAC	0.458			T	"RUNXBP2, HEY1"	"AML, Chondrosarcoma"																																		Dom	yes		8	8q13.1	10499	nuclear receptor coactivator 2 (TIF2)		L	0													204	190	195					8																	71056986		1925	4138	6063	SO:0001819	synonymous_variant	10499			X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.2703T>C	chr8.hg19:g.71056986A>G			Q14CD2	Silent	SNP	ENST00000452400.2	hg19	CCDS47872.1																																																																																				0.458	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1			G	71056986	A	G	71056986	2	3	781	1	0	0	0	0	0	0	0	1	10231	59	3	3		3	NCOA2	8	71056986	Silent	SNP	A	TCGA-PJ-A8JU-01A-11D-A35Z-10	3542290	71056986	75307036	38	46196											
TP53INP1	94241	hgsc.bcm.edu	37	8	95952262	95952262	+	Missense_Mutation	SNP	G	G	T			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr8:95952262G>T	ENST00000342697.4	-	3	706	c.299C>A	c.(298-300)cCa>cAa	p.P100Q	NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000378776.4_Missense_Mutation_p.P100Q|TP53INP1_ENST00000448464.2_Missense_Mutation_p.P100Q	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	100					apoptotic process (GO:0006915)|autophagic cell death (GO:0048102)|autophagy (GO:0006914)|cell cycle arrest (GO:0007050)|cellular response to ethanol (GO:0071361)|cellular response to hydroperoxide (GO:0071447)|cellular response to methyl methanesulfonate (GO:0072703)|cellular response to UV (GO:0034644)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription, DNA-templated (GO:0045893)|response to heat (GO:0009408)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)	antioxidant activity (GO:0016209)			kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					ACATGGGGGTGGGGTGATAAA	0.463																																																0													123	115	118					8																	95952262		2203	4300	6503	SO:0001583	missense	94241			AF409115	CCDS6265.1, CCDS47899.1	8q22	2004-03-11				ENSG00000164938			18022	protein-coding gene	gene with protein product		606185				11511362, 12438758	Standard	NM_033285		Approved	DKFZp434M1317, FLJ22139, P53DINP1, SIP, TP53INP1A, TP53INP1B, Teap	uc003yhg.3	Q96A56		ENST00000342697.4:c.299C>A	chr8.hg19:g.95952262G>T	ENSP00000344215:p.Pro100Gln		B2RCE5|Q969R9	Missense_Mutation	SNP	ENST00000342697.4	hg19	CCDS6265.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.434936	0.83885	.	.	ENSG00000164938	ENST00000448464;ENST00000342697;ENST00000378776	T;T;T	0.79653	-1.29;-1.29;-1.29	6.17	5.3	0.74995	.	0.045488	0.85682	D	0.000000	D	0.89938	0.6860	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.983;0.999	D	0.91385	0.5130	10	0.87932	D	0	-22.1295	15.699	0.77528	0.0652:0.0:0.9348:0.0	.	100;100	Q96A56-2;Q96A56	.;T53I1_HUMAN	Q	100	ENSP00000390063:P100Q;ENSP00000344215:P100Q;ENSP00000368052:P100Q	ENSP00000344215:P100Q	P	-	2	0	TP53INP1	96021438	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	9.323000	0.96364	1.630000	0.50440	0.655000	0.94253	CCA		0.463	TP53INP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379818.1			T	95952262	G	T	95952262	3	4	781	1	0	0	0	0	1	0	0	0	16393	1348	47	4	457	4	TP53INP1	8	95952262	Missense_Mutation	SNP	G	TCGA-PJ-A8JU-01A-11D-A35Z-10	24895276	95952262	50411760	39	46197											
PABPC1	26986	hgsc.bcm.edu	37	8	101717893	101717893	+	Silent	SNP	A	A	G			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr8:101717893A>G	ENST00000318607.5	-	12	2739	c.1611T>C	c.(1609-1611)gtT>gtC	p.V537V	PABPC1_ENST00000519596.1_5'Flank|AP001205.1_ENST00000579868.1_RNA|PABPC1_ENST00000519004.1_Silent_p.V492V|PABPC1_ENST00000522387.1_Silent_p.V505V	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	537					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)			CTTGTACATGAACAGCAGGCT	0.433																																																0													58	50	53					8																	101717893		2203	4300	6503	SO:0001819	synonymous_variant	26986			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.1611T>C	chr8.hg19:g.101717893A>G			Q15097|Q93004	Silent	SNP	ENST00000318607.5	hg19	CCDS6289.1	.	.	.	.	.	.	.	.	.	.	A	15.34	2.804600	0.50315	.	.	ENSG00000070756	ENST00000520868	.	.	.	5.75	3.37	0.38596	.	.	.	.	.	T	0.54565	0.1866	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50030	-0.8875	4	.	.	.	.	5.8593	0.18736	0.6593:0.0:0.3407:0.0	.	.	.	.	S	70	.	.	F	-	2	0	PABPC1	101787069	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.676000	0.25247	1.106000	0.41623	0.533000	0.62120	TTC		0.433	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568		G	101717893	A	G	101717893	2	3	781	1	0	0	0	0	0	0	0	1	11365	233	9	3		3	PABPC1	8	101717893	Silent	SNP	A	TCGA-PJ-A8JU-01A-11D-A35Z-10	5765631	101717893	44646129	40	46198											
OR13C2	392376	hgsc.bcm.edu	37	9	107367111	107367111	+	Missense_Mutation	SNP	C	C	A	rs75116810		TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr9:107367111C>A	ENST00000542196.1	-	1	840	c.798G>T	c.(796-798)gaG>gaT	p.E266D		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, 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)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						AATTAAGTGTCTCTTTAGACT	0.418																																																0													148	132	137					9																	107367111		2201	4300	6501	SO:0001583	missense	392376				CCDS35092.1	9q31.1	2012-10-03			ENSG00000257019	ENSG00000276119		"GPCR / Class A : Olfactory receptors"	14701	protein-coding gene	gene with protein product							Standard	NM_001004481		Approved		uc011lvq.2	Q8NGS9	OTTHUMG00000020415	ENST00000542196.1:c.798G>T	chr9.hg19:g.107367111C>A	ENSP00000438815:p.Glu266Asp		B9EGV8|Q6IF54	Missense_Mutation	SNP	ENST00000542196.1	hg19	CCDS35092.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.250712	0.00022	.	.	ENSG00000257019	ENST00000542196	T	0.00164	8.64	3.08	-3.79	0.04320	GPCR, rhodopsin-like superfamily (1);	0.448415	0.16003	U	0.234188	T	0.00039	0.0001	N	0.01824	-0.7	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.36792	-0.9733	10	0.02654	T	1	.	4.0407	0.09750	0.1362:0.2057:0.5389:0.1192	.	266	Q8NGS9	O13C2_HUMAN	D	266	ENSP00000438815:E266D	ENSP00000438815:E266D	E	-	3	2	OR13C2	106406932	0.004000	0.15560	0.000000	0.03702	0.004000	0.04260	-0.422000	0.07043	-0.512000	0.06505	-0.657000	0.03884	GAG		0.418	OR13C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053489.2	NM_001004481		A	107367111	C	A	107367111	3	1	781	1	0	0	0	0	1	0	0	0	10936	912	32	4	161	4	OR13C2	9	107367111	Missense_Mutation	SNP	C	TCGA-PJ-A8JU-01A-11D-A35Z-10		107367111	33846320	41	46199											
CDK5RAP2	55755	hgsc.bcm.edu	37	9	123287316	123287316	+	Missense_Mutation	SNP	G	G	A			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr9:123287316G>A	ENST00000349780.4	-	11	1219	c.1040C>T	c.(1039-1041)gCc>gTc	p.A347V	CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.A347V|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.A347V|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.A347V	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	347					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						TTTAGCAAAGGCAGCACTGAG	0.468																																																0													125	105	112					9																	123287316		2203	4300	6503	SO:0001583	missense	55755			BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"centrosomin"	608201	"microcephaly, primary autosomal recessive 3"	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.1040C>T	chr9.hg19:g.123287316G>A	ENSP00000343818:p.Ala347Val		Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	ENST00000349780.4	hg19	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.617235	0.66672	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000345313;ENST00000482047	T;T;T;T;T	0.42900	3.84;3.75;3.84;3.75;0.96	5.51	4.59	0.56863	.	0.432373	0.21888	N	0.067631	T	0.46268	0.1384	L	0.56769	1.78	0.09310	N	0.999996	P;P;B;P	0.46142	0.86;0.873;0.078;0.799	P;B;B;B	0.47075	0.536;0.306;0.127;0.162	T	0.34725	-0.9817	10	0.29301	T	0.29	.	13.6699	0.62418	0.0:0.0:0.8403:0.1597	.	148;347;347;347	Q6MZT4;Q96SN8-2;Q96SN8-4;Q96SN8	.;.;.;CK5P2_HUMAN	V	347;347;347;347;349;101	ENSP00000354065:A347V;ENSP00000352258:A347V;ENSP00000343818:A347V;ENSP00000353317:A347V;ENSP00000419640:A101V	ENSP00000341695:A349V	A	-	2	0	CDK5RAP2	122327137	1.000000	0.71417	0.019000	0.16419	0.844000	0.47949	5.391000	0.66266	1.290000	0.44636	0.555000	0.69702	GCC		0.468	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249		A	123287316	G	A	123287316	3	1	781	1	0	0	0	0	1	0	0	0	3148	1203	42	2	4753	2	CDK5RAP2	9	123287316	Missense_Mutation	SNP	G	TCGA-PJ-A8JU-01A-11D-A35Z-10	15920205	123287316	17926115	42	46200											
STOX1	219736	hgsc.bcm.edu	37	10	70645490	70645490	+	Silent	SNP	C	C	A			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr10:70645490C>A	ENST00000298596.6	+	3	2021	c.1938C>A	c.(1936-1938)gcC>gcA	p.A646A	STOX1_ENST00000399165.4_Intron|STOX1_ENST00000421961.2_Silent_p.A536A|STOX1_ENST00000399162.2_Intron|STOX1_ENST00000399169.4_Silent_p.A646A	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	646						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						CACGAGGTGCCTCCTTTTCAG	0.448																																																0													128	121	123					10																	70645490		1926	4138	6064	SO:0001819	synonymous_variant	219736			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.1938C>A	chr10.hg19:g.70645490C>A			A2A3Q9|A5D6Y7|B0QZA4|B0QZA5|B0QZA6|Q4F8Q6|Q5I946|Q5I947|Q5I948|Q5VX38|Q5VX39|Q6ZRY3|Q96LR3|Q96LS0	Silent	SNP	ENST00000298596.6	hg19	CCDS41535.1																																																																																				0.448	STOX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276849.3	NM_152709		A	70645490	C	A	70645490	2	1	781	1	0	0	0	0	0	0	0	1	15324	668	24	4		4	STOX1	10	70645490	Silent	SNP	C	TCGA-PJ-A8JU-01A-11D-A35Z-10		70645490	64889257	43	46201											
FUT11	170384	hgsc.bcm.edu	37	10	75535419	75535419	+	Silent	SNP	C	C	A			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr10:75535419C>A	ENST00000372841.3	+	3	1498	c.1455C>A	c.(1453-1455)atC>atA	p.I485I	RMRPP1_ENST00000517236.1_RNA	NM_173540.2	NP_775811.2	Q495W5	FUT11_HUMAN	fucosyltransferase 11 (alpha (1,3) fucosyltransferase)	485					protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7	Prostate(51;0.0112)					TACATGAAATCTTCATGAAGA	0.453																																																0													110	99	103					10																	75535419		2203	4300	6503	SO:0001819	synonymous_variant	170384			BC036037	CCDS7333.1, CCDS60558.1	10q22.3	2014-01-02			ENSG00000196968	ENSG00000196968		"Fucosyltransferases"	19233	protein-coding gene	gene with protein product						11698403, 24318988	Standard	NM_173540		Approved	MGC33202	uc001jva.3	Q495W5	OTTHUMG00000018483	ENST00000372841.3:c.1455C>A	chr10.hg19:g.75535419C>A			Q495W7|Q8IYE4	Silent	SNP	ENST00000372841.3	hg19	CCDS7333.1																																																																																				0.453	FUT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048689.1	NM_173540		A	75535419	C	A	75535419	2	1	781	1	0	0	0	0	0	0	0	1	6105	903	32	4		4	FUT11	10	75535419	Silent	SNP	C	TCGA-PJ-A8JU-01A-11D-A35Z-10	4889929	75535419	59999328	44	46202											
PTEN	5728	hgsc.bcm.edu	37	10	89720833	89720833	+	Frame_Shift_Del	DEL	A	A	-	rs587782304		TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr10:89720833delA	ENST00000371953.3	+	8	2341	c.984delA	c.(982-984)gcafs	p.A328fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	328	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.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T319_K332del(1)|p.G165_*404del(1)|p.A328fs*15(1)|p.W274_F341del(1)|p.A328fs*1(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)		TTGACAAAGCAAATAAAGACA	0.328		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	phosphatase and tensin homolog gene		"L, E, M, O"	54	Whole gene deletion(37)|Deletion - Frameshift(11)|Deletion - In frame(4)|Unknown(2)	prostate(16)|central_nervous_system(13)|skin(6)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|endometrium(3)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(1)											73	76	75					10																	89720833		2203	4297	6500	SO:0001589	frameshift_variant	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.984delA	chr10.hg19:g.89720833delA	ENSP00000361021:p.Ala328fs		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL	ENST00000371953.3	hg19	CCDS31238.1																																																																																				0.328	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		-	89720833	A	-	89720833	7	5	781	1	0	1	0	1	0	0	0	0	12743	117	5	0	1014	0	PTEN	10	89720833	Frame_Shift_Del	DEL	A	TCGA-PJ-A8JU-01A-11D-A35Z-10	14185414	89720833	45813914	45	46203	496	2									
PTEN	5728	hgsc.bcm.edu	37	10	89720837	89720837	+	Nonsense_Mutation	SNP	A	A	T			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr10:89720837A>T	ENST00000371953.3	+	8	2345	c.988A>T	c.(988-990)Aaa>Taa	p.K330*	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	330	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.N329fs*14(3)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T319_K332del(1)|p.G165_*404del(1)|p.W274_F341del(1)|p.N329fs*12(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)		CAAAGCAAATAAAGACAAAGC	0.323		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	phosphatase and tensin homolog gene		"L, E, M, O"	56	Whole gene deletion(37)|Deletion - Frameshift(13)|Deletion - In frame(4)|Unknown(2)	prostate(16)|central_nervous_system(13)|skin(6)|endometrium(4)|lung(4)|breast(4)|haematopoietic_and_lymphoid_tissue(3)|ovary(3)|urinary_tract(2)|soft_tissue(1)											71	73	72					10																	89720837		2203	4298	6501	SO:0001587	stop_gained	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.988A>T	chr10.hg19:g.89720837A>T	ENSP00000361021:p.Lys330*		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	ENST00000371953.3	hg19	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	A	49	15.016191	0.99819	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.5629	15.3536	0.74409	1.0:0.0:0.0:0.0	.	.	.	.	X	330	.	.	K	+	1	0	PTEN	89710817	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.861000	0.92277	2.034000	0.60081	0.482000	0.46254	AAA		0.323	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		T	89720837	A	T	89720837	4	4	781	1	0	0	0	0	0	1	0	0	12743	363	13	5	1018	5	PTEN	10	89720837	Nonsense_Mutation	SNP	A	TCGA-PJ-A8JU-01A-11D-A35Z-10	4	89720837	45813910	46	46204	496	2									
AMBRA1	55626	hgsc.bcm.edu	37	11	46563838	46563838	+	Missense_Mutation	SNP	A	A	G			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr11:46563838A>G	ENST00000458649.2	-	7	2147	c.1729T>C	c.(1729-1731)Ttc>Ctc	p.F577L	AMBRA1_ENST00000533727.1_Missense_Mutation_p.F487L|AMBRA1_ENST00000298834.3_Missense_Mutation_p.F577L|AMBRA1_ENST00000528950.1_Missense_Mutation_p.F577L|AMBRA1_ENST00000534300.1_Missense_Mutation_p.F577L|AMBRA1_ENST00000314845.3_Missense_Mutation_p.F487L|AMBRA1_ENST00000426438.1_Missense_Mutation_p.F577L			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	577					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)		TCGTTGTTGAAGGTCAGGAGA	0.582																																																0													121	99	106					11																	46563838		2201	4299	6500	SO:0001583	missense	55626			AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	25990	protein-coding gene	gene with protein product	"WD repeat domain 94", "DDB1 and CUL4 associated factor 3"	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.1729T>C	chr11.hg19:g.46563838A>G	ENSP00000415327:p.Phe577Leu		A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Missense_Mutation	SNP	ENST00000458649.2	hg19		.	.	.	.	.	.	.	.	.	.	A	17.64	3.440069	0.63067	.	.	ENSG00000110497	ENST00000314845;ENST00000533727;ENST00000534300;ENST00000426438;ENST00000298834;ENST00000314823;ENST00000458649;ENST00000528950	T;T;T;T;T;T;T	0.80824	-1.02;-1.42;-0.83;-0.96;-0.83;-0.84;-0.96	5.73	5.73	0.89815	.	0.044861	0.85682	D	0.000000	D	0.84097	0.5397	L	0.29908	0.895	0.80722	D	1	P;D;D;D;D;D	0.71674	0.953;0.998;0.998;0.974;0.99;0.974	B;D;D;D;D;D	0.76071	0.294;0.987;0.987;0.969;0.979;0.969	D	0.84535	0.0635	10	0.44086	T	0.13	.	16.0234	0.80516	1.0:0.0:0.0:0.0	.	577;577;577;487;487;487	Q9C0C7;Q9C0C7-3;Q9C0C7-2;G3V193;Q9C0C7-5;Q9C0C7-4	AMRA1_HUMAN;.;.;.;.;.	L	487;487;577;577;577;487;577;577	ENSP00000318313:F487L;ENSP00000433372:F487L;ENSP00000431926:F577L;ENSP00000410899:F577L;ENSP00000298834:F577L;ENSP00000415327:F577L;ENSP00000433945:F577L	ENSP00000298834:F577L	F	-	1	0	AMBRA1	46520414	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.935000	0.92923	2.172000	0.68678	0.533000	0.62120	TTC		0.582	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000390103.1	NM_017749		G	46563838	A	G	46563838	3	3	781	1	0	0	0	0	1	0	0	0	565	72	3	3	2215	3	AMBRA1	11	46563838	Missense_Mutation	SNP	A	TCGA-PJ-A8JU-01A-11D-A35Z-10		46563838	88442678	47	46205											
AMBRA1	55626	hgsc.bcm.edu	37	11	46569397	46569397	+	Missense_Mutation	SNP	G	G	T			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr11:46569397G>T	ENST00000458649.2	-	3	582	c.164C>A	c.(163-165)tCt>tAt	p.S55Y	AMBRA1_ENST00000533727.1_Missense_Mutation_p.S55Y|AMBRA1_ENST00000298834.3_Missense_Mutation_p.S55Y|AMBRA1_ENST00000528950.1_Missense_Mutation_p.S55Y|AMBRA1_ENST00000534300.1_Missense_Mutation_p.S55Y|AMBRA1_ENST00000314845.3_Missense_Mutation_p.S55Y|AMBRA1_ENST00000426438.1_Missense_Mutation_p.S55Y			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	55					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)		TAAGAAGGTAGAGCGTGGACT	0.383																																																0													53	54	54					11																	46569397		2201	4299	6500	SO:0001583	missense	55626			AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	25990	protein-coding gene	gene with protein product	"WD repeat domain 94", "DDB1 and CUL4 associated factor 3"	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.164C>A	chr11.hg19:g.46569397G>T	ENSP00000415327:p.Ser55Tyr		A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Missense_Mutation	SNP	ENST00000458649.2	hg19		.	.	.	.	.	.	.	.	.	.	G	19.58	3.853645	0.71719	.	.	ENSG00000110497	ENST00000314845;ENST00000533727;ENST00000534300;ENST00000426438;ENST00000298834;ENST00000314823;ENST00000458649;ENST00000528950	T;T;T;T;T;T;T	0.72282	-0.48;-0.64;-0.34;-0.45;-0.34;-0.43;-0.45	6.04	6.04	0.98038	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.84188	0.5417	M	0.67397	2.05	0.80722	D	1	D;D;D;D;D;D	0.89917	0.998;1.0;1.0;0.999;0.999;0.999	D;D;D;D;D;D	0.87578	0.991;0.998;0.998;0.996;0.996;0.996	T	0.83247	-0.0055	10	0.56958	D	0.05	.	20.5792	0.99380	0.0:0.0:1.0:0.0	.	55;55;55;55;55;55	Q9C0C7;Q9C0C7-3;Q9C0C7-2;G3V193;Q9C0C7-5;Q9C0C7-4	AMRA1_HUMAN;.;.;.;.;.	Y	55	ENSP00000318313:S55Y;ENSP00000433372:S55Y;ENSP00000431926:S55Y;ENSP00000410899:S55Y;ENSP00000298834:S55Y;ENSP00000415327:S55Y;ENSP00000433945:S55Y	ENSP00000298834:S55Y	S	-	2	0	AMBRA1	46525973	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.659000	0.98597	2.873000	0.98535	0.561000	0.74099	TCT		0.383	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000390103.1	NM_017749		T	46569397	G	T	46569397	3	4	781	1	0	0	0	0	1	0	0	0	565	942	33	4	3530	4	AMBRA1	11	46569397	Missense_Mutation	SNP	G	TCGA-PJ-A8JU-01A-11D-A35Z-10	5559	46569397	88437119	48	46206											
NXF1	10482	hgsc.bcm.edu	37	11	62561809	62561809	+	Missense_Mutation	SNP	G	G	A	rs546919784		TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr11:62561809G>A	ENST00000532297.1	-	20	2310	c.1681C>T	c.(1681-1683)Ccc>Tcc	p.P561S	NXF1_ENST00000294172.2_Missense_Mutation_p.P561S|TMEM223_ENST00000527073.1_5'Flank|TMEM223_ENST00000525631.1_5'Flank|NXF1_ENST00000533048.1_5'UTR|NXF1_ENST00000531709.2_3'UTR|TMEM223_ENST00000307366.7_5'Flank			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	561	Pro-rich.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear inclusion body (GO:0042405)|nuclear pore (GO:0005643)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAGAGGGTGGGCACCGGGCTG	0.537													G|||	1	0.000199681	0.0	0.0	5008	,	,		17580	0.0		0.0	False		,,,				2504	0.001															0													103	95	98					11																	62561809		2201	4299	6500	SO:0001583	missense	10482			AF112880	CCDS8037.1, CCDS44629.1	11q12-q13	2008-07-21			ENSG00000162231	ENSG00000162231			8071	protein-coding gene	gene with protein product	"tip associating protein"	602647				9175835, 9660949	Standard	NM_001081491		Approved	TAP, Mex67, DKFZp667O0311	uc001nvf.1	Q9UBU9	OTTHUMG00000167612	ENST00000532297.1:c.1681C>T	chr11.hg19:g.62561809G>A	ENSP00000436679:p.Pro561Ser		B4E269|Q99799|Q9UQL2	Missense_Mutation	SNP	ENST00000532297.1	hg19	CCDS8037.1	.	.	.	.	.	.	.	.	.	.	G	19.02	3.745384	0.69418	.	.	ENSG00000162231	ENST00000294172;ENST00000532297	T;T	0.52295	0.67;0.67	5.38	4.43	0.53597	TAP, C-terminal (1);UBA-like (1);	0.000000	0.85682	D	0.000000	T	0.44746	0.1308	M	0.70842	2.15	0.80722	D	1	P	0.44734	0.842	B	0.37601	0.254	T	0.46816	-0.9164	10	0.29301	T	0.29	-18.3515	13.9834	0.64319	0.0:0.1517:0.8483:0.0	.	561	Q9UBU9	NXF1_HUMAN	S	561	ENSP00000294172:P561S;ENSP00000436679:P561S	ENSP00000294172:P561S	P	-	1	0	NXF1	62318385	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.633000	0.83260	2.526000	0.85167	0.462000	0.41574	CCC		0.537	NXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395365.2	NM_006362		A	62561809	G	A	62561809	3	1	781	1	0	0	0	0	1	0	0	0	10784	1203	42	2	190	2	NXF1	11	62561809	Missense_Mutation	SNP	G	TCGA-PJ-A8JU-01A-11D-A35Z-10	15992412	62561809	72444707	49	46207											
PCF11	51585	hgsc.bcm.edu	37	11	82877708	82877708	+	Missense_Mutation	SNP	G	G	A			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr11:82877708G>A	ENST00000298281.4	+	5	2221	c.1769G>A	c.(1768-1770)aGt>aAt	p.S590N		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	590					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						AACTGGCAAAGTTCCAAGTCT	0.368																																																0													70	70	70					11																	82877708		1802	3980	5782	SO:0001583	missense	51585			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.1769G>A	chr11.hg19:g.82877708G>A	ENSP00000298281:p.Ser590Asn		A6H8W7|O43671|Q6P0X8	Missense_Mutation	SNP	ENST00000298281.4	hg19	CCDS44689.1	.	.	.	.	.	.	.	.	.	.	G	7.024	0.559350	0.13436	.	.	ENSG00000165494	ENST00000298281;ENST00000530660;ENST00000530304	T;T;T	0.45276	1.9;0.9;0.9	6.07	4.18	0.49190	.	0.165679	0.43747	D	0.000537	T	0.27278	0.0669	N	0.19112	0.55	0.24915	N	0.992017	B;B	0.19583	0.037;0.0	B;B	0.19391	0.025;0.003	T	0.14615	-1.0466	9	.	.	.	.	11.9702	0.53060	0.0652:0.1224:0.8124:0.0	.	590;590	E9PQ01;O94913	.;PCF11_HUMAN	N	590	ENSP00000298281:S590N;ENSP00000434540:S590N;ENSP00000431567:S590N	.	S	+	2	0	PCF11	82555356	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.554000	0.53720	0.869000	0.35703	0.655000	0.94253	AGT		0.368	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885		A	82877708	G	A	82877708	3	1	781	1	0	0	0	0	1	0	0	0	11575	1029	36	2	1787	2	PCF11	11	82877708	Missense_Mutation	SNP	G	TCGA-PJ-A8JU-01A-11D-A35Z-10	20315899	82877708	52128808	50	46208											
CREBZF	58487	hgsc.bcm.edu	37	11	85375427	85375427	+	Missense_Mutation	SNP	T	T	C			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr11:85375427T>C	ENST00000527447.1	-	1	719	c.493A>G	c.(493-495)Agg>Ggg	p.R165G	CREBZF_ENST00000398294.2_Missense_Mutation_p.R83G|CREBZF_ENST00000531515.1_Intron|CREBZF_ENST00000534224.1_Intron	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor	165					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)				TTTAACAGCCTTTGCAGCAGG	0.647											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)											0													20	23	22					11																	85375427		2044	4204	6248	SO:0001583	missense	58487			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.493A>G	chr11.hg19:g.85375427T>C	ENSP00000433459:p.Arg165Gly	1236	B2R8Q9|Q0P5U9|Q52LT3	Missense_Mutation	SNP	ENST00000527447.1	hg19	CCDS41697.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.279731	0.80692	.	.	ENSG00000137504	ENST00000398294;ENST00000527447	.	.	.	4.46	4.46	0.54185	.	0.219310	0.30879	N	0.008690	T	0.41026	0.1141	N	0.04508	-0.205	0.35343	D	0.78664	D	0.57899	0.981	D	0.67231	0.95	T	0.50955	-0.8766	8	.	.	.	-19.5129	10.3281	0.43805	0.0:0.0:0.0:1.0	.	165	Q9NS37	ZHANG_HUMAN	G	83;165	.	.	R	-	1	2	CREBZF	85053075	0.997000	0.39634	1.000000	0.80357	0.990000	0.78478	0.977000	0.29475	2.003000	0.58678	0.459000	0.35465	AGG		0.647	CREBZF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390191.2	NM_001039618		C	85375427	T	C	85375427	3	2	781	1	0	0	0	0	1	0	0	0	3865	1608	56	3	575	3	CREBZF	11	85375427	Missense_Mutation	SNP	T	TCGA-PJ-A8JU-01A-11D-A35Z-10	2497719	85375427	49631089	51	46209											
DDX10	1662	hgsc.bcm.edu	37	11	108562631	108562631	+	Missense_Mutation	SNP	G	G	A			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr11:108562631G>A	ENST00000322536.3	+	8	1133	c.1004G>A	c.(1003-1005)cGg>cAg	p.R335Q	DDX10_ENST00000526794.1_Missense_Mutation_p.R335Q	NM_004398.2	NP_004389.2	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	335	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				metabolic process (GO:0008152)		ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		GTGTTTTGCCGGCTACGTCCT	0.448			T	NUP98	AML*																																		Dom	yes		11	11q22-q23	1662	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10		L	0													159	132	141					11																	108562631		2201	4298	6499	SO:0001583	missense	1662			U28042	CCDS8342.1	11q22-q23	2005-10-11	2003-06-13		ENSG00000178105	ENSG00000178105		"DEAD-boxes"	2735	protein-coding gene	gene with protein product		601235	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase)"			8660968	Standard	NM_004398		Approved	HRH-J8	uc001pkm.3	Q13206	OTTHUMG00000166540	ENST00000322536.3:c.1004G>A	chr11.hg19:g.108562631G>A	ENSP00000314348:p.Arg335Gln		B2RCQ3|Q5BJD8	Missense_Mutation	SNP	ENST00000322536.3	hg19	CCDS8342.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.827186	0.71143	.	.	ENSG00000178105	ENST00000322536;ENST00000456020;ENST00000526794	T;T	0.04706	3.57;3.57	5.48	4.57	0.56435	Helicase, C-terminal (2);	0.051708	0.64402	D	0.000001	T	0.07413	0.0187	N	0.19112	0.55	0.46356	D	0.999001	D;D	0.60575	0.988;0.979	P;P	0.55112	0.74;0.769	T	0.39375	-0.9617	10	0.48119	T	0.1	-12.4144	11.2003	0.48736	0.1599:0.0:0.8401:0.0	.	335;335	Q13206;E9PIF2	DDX10_HUMAN;.	Q	335;241;335	ENSP00000314348:R335Q;ENSP00000432032:R335Q	ENSP00000314348:R335Q	R	+	2	0	DDX10	108067841	1.000000	0.71417	0.955000	0.39395	0.226000	0.24999	6.285000	0.72658	1.309000	0.44985	0.591000	0.81541	CGG		0.448	DDX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390343.1	NM_004398		A	108562631	G	A	108562631	3	1	781	1	0	0	0	0	1	0	0	0	4344	1116	39	1	1034	1	DDX10	11	108562631	Missense_Mutation	SNP	G	TCGA-PJ-A8JU-01A-11D-A35Z-10	23187204	108562631	26443885	52	46210											
ARHGAP9	64333	hgsc.bcm.edu	37	12	57872506	57872506	+	Missense_Mutation	SNP	C	C	G	rs368912616		TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr12:57872506C>G	ENST00000356411.2	-	3	489	c.351G>C	c.(349-351)ttG>ttC	p.L117F	ARHGAP9_ENST00000430041.2_5'Flank|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.L196F|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.L117F|ARHGAP9_ENST00000393797.2_Missense_Mutation_p.L188F|ARHGAP9_ENST00000550454.1_5'Flank|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.L117F			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	117					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)			GGGCCTGAGACAACTCCTCCA	0.577																																																0													59	56	57					12																	57872506		2203	4300	6503	SO:0001583	missense	64333			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.351G>C	chr12.hg19:g.57872506C>G	ENSP00000348782:p.Leu117Phe		B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Missense_Mutation	SNP	ENST00000356411.2	hg19		.	.	.	.	.	.	.	.	.	.	c	2.790	-0.251593	0.05867	.	.	ENSG00000123329	ENST00000393791;ENST00000356411;ENST00000424809;ENST00000393797;ENST00000340423;ENST00000552249	T;T;T;T;T	0.61742	2.86;2.86;1.5;2.75;0.08	3.96	0.0109	0.14085	.	0.959081	0.08578	N	0.925035	T	0.53142	0.1778	L	0.48642	1.525	0.09310	N	1	D;P;B;P;B	0.61697	0.99;0.745;0.001;0.527;0.392	P;B;B;B;B	0.51806	0.68;0.161;0.001;0.158;0.076	T	0.43261	-0.9402	10	0.51188	T	0.08	.	1.2457	0.01972	0.1714:0.4464:0.1797:0.2026	.	117;196;117;117;117	B4E248;Q6ZN13;Q9BRR9;Q9BRR9-2;E9PDX9	.;.;RHG09_HUMAN;.;.	F	117;117;117;188;166;35	ENSP00000377380:L117F;ENSP00000348782:L117F;ENSP00000394307:L117F;ENSP00000377386:L188F;ENSP00000448358:L35F	ENSP00000344852:L166F	L	-	3	2	ARHGAP9	56158773	0.000000	0.05858	0.003000	0.11579	0.020000	0.10135	-0.013000	0.12678	0.003000	0.14656	-1.776000	0.00657	TTG		0.577	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_032496		G	57872506	C	G	57872506	3	3	781	1	0	0	0	0	1	0	0	0	889	477	17	4	1908	4	ARHGAP9	12	57872506	Missense_Mutation	SNP	C	TCGA-PJ-A8JU-01A-11D-A35Z-10		57872506	75979389	53	46211											
TRHDE	29953	hgsc.bcm.edu	37	12	72962372	72962372	+	Silent	SNP	T	T	C			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr12:72962372T>C	ENST00000261180.4	+	10	2028	c.1932T>C	c.(1930-1932)acT>acC	p.T644T	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	644					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						TTCCATTAACTATTGTGGTAG	0.348																																																0													112	111	111					12																	72962372		2203	4300	6503	SO:0001819	synonymous_variant	29953			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.1932T>C	chr12.hg19:g.72962372T>C			A5PL19|Q6UWJ4	Silent	SNP	ENST00000261180.4	hg19	CCDS9004.1																																																																																				0.348	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		C	72962372	T	C	72962372	2	2	781	1	0	0	0	0	0	0	0	1	16484	1509	53	3		3	TRHDE	12	72962372	Silent	SNP	T	TCGA-PJ-A8JU-01A-11D-A35Z-10	15089866	72962372	60889523	54	46212											
TUBGCP3	10426	hgsc.bcm.edu	37	13	113212595	113212596	+	Frame_Shift_Ins	INS	-	-	G	rs9324311	byFrequency	TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr13:113212595_113212596insG	ENST00000261965.3	-	5	648_649	c.462_463insC	c.(460-465)tccggcfs	p.G155fs	TUBGCP3_ENST00000375669.3_Frame_Shift_Ins_p.G155fs	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	155					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)					CCCACGCTGCCGGAGCTCTGGG	0.624																																																0																																										SO:0001589	frameshift_variant	10426			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.463dupC	chr13.hg19:g.113212597_113212597dupG	ENSP00000261965:p.Gly155fs		O43631|O60852|O60853|Q5T8L2|Q7Z4K1|Q96I79	Frame_Shift_Ins	INS	ENST00000261965.3	hg19	CCDS9525.1																																																																																				0.624	TUBGCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045825.2	NM_006322		G	113212596	-	G	113212595	7	5	781	1	0	1	1	0	0	0	0	0	16772	652	23	0	2332	0	TUBGCP3	13	113212595	Frame_Shift_Ins	INS	-	TCGA-PJ-A8JU-01A-11D-A35Z-10		113212595	1957283	55	46213											
CMA1	1215	hgsc.bcm.edu	37	14	24976587	24976588	+	Missense_Mutation	DNP	GC	GC	CA			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr14:24976587_24976588GC>CA	ENST00000250378.3	-	2	212_213	c.183_184GC>TG	c.(181-186)gtGCtg>gtTGtg	p.L62V	CMA1_ENST00000206446.4_Intron|RP11-80A15.1_ENST00000555109.1_Intron	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	62	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)		GCAGCCGTCAGCACAAAGTTCC	0.48																																																0																																										SO:0001583	missense	1215				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.183_184delinsCA	chr14.hg19:g.24976587_24976588delinsCA	ENSP00000250378:p.Leu62Val		B5BUM8|Q16018|Q3SY36|Q3SY37|Q9UDH5	Missense_Mutation|Silent	SNP	ENST00000250378.3	hg19	CCDS9630.1																																																																																				0.48	CMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276535.2			CA	24976588	GC	CA	24976587	3	2	781	1	0	0	0	0	1	0	0	0	3576	962	34	4	575	4	CMA1	14	24976587	Missense_Mutation	DNP	GC	TCGA-PJ-A8JU-01A-11D-A35Z-10		24976587	82372953	56	46214											
ARG2	384	hgsc.bcm.edu	37	14	68113700	68113700	+	Missense_Mutation	SNP	T	T	A			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr14:68113700T>A	ENST00000261783.3	+	6	860	c.680T>A	c.(679-681)aTc>aAc	p.I227N		NM_001172.3	NP_001163.1	P78540	ARGI2_HUMAN	arginase 2	227					arginine metabolic process (GO:0006525)|cellular nitrogen compound metabolic process (GO:0034641)|nitric oxide biosynthetic process (GO:0006809)|small molecule metabolic process (GO:0044281)|striated muscle contraction (GO:0006941)|urea cycle (GO:0000050)|ureteric bud development (GO:0001657)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	arginase activity (GO:0004053)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|ovary(1)|prostate(1)	11				all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928)	L-Arginine(DB00125)|L-Ornithine(DB00129)	CGACTTGGTATCCAGAAGGTC	0.378																																																0													108	104	105					14																	68113700		2203	4300	6503	SO:0001583	missense	384			D86724	CCDS9785.1	14q24.1	2013-05-01	2013-05-01			ENSG00000081181			664	protein-coding gene	gene with protein product		107830	"arginase, type II"			8954792, 8898077	Standard	NM_001172		Approved		uc001xjs.3	P78540		ENST00000261783.3:c.680T>A	chr14.hg19:g.68113700T>A	ENSP00000261783:p.Ile227Asn		B2R690|Q6FHY8	Missense_Mutation	SNP	ENST00000261783.3	hg19	CCDS9785.1	.	.	.	.	.	.	.	.	.	.	T	31	5.095241	0.94197	.	.	ENSG00000081181	ENST00000261783	D	0.85955	-2.05	6.17	6.17	0.99709	Ureohydrolase domain (1);	0.044090	0.85682	D	0.000000	D	0.95446	0.8521	H	0.97365	3.99	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.96930	0.9680	10	0.87932	D	0	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	227	P78540	ARGI2_HUMAN	N	227	ENSP00000261783:I227N	ENSP00000261783:I227N	I	+	2	0	ARG2	67183453	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	ATC		0.378	ARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415190.2	NM_001172		A	68113700	T	A	68113700	3	1	781	1	0	0	0	0	1	0	0	0	858	1435	50	5	702	5	ARG2	14	68113700	Missense_Mutation	SNP	T	TCGA-PJ-A8JU-01A-11D-A35Z-10	43137113	68113700	39235840	57	46215											
SNURF	8926	hgsc.bcm.edu	37	15	25207341	25207341	+	Nonsense_Mutation	SNP	C	C	A			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr15:25207341C>A	ENST00000577949.1	+	2	158	c.95C>A	c.(94-96)tCa>tAa	p.S32*	SNRPN_ENST00000400100.1_5'UTR|SNURF_ENST00000551312.2_Nonsense_Mutation_p.S32*|SNRPN_ENST00000400098.1_5'UTR|SNRPN_ENST00000553597.1_3'UTR|SNRPN_ENST00000400097.1_5'UTR|SNRPN_ENST00000390687.4_5'UTR|SNURF_ENST00000338094.6_Nonsense_Mutation_p.S32*|SNRPN_ENST00000346403.6_5'UTR|SNURF_ENST00000338327.4_Nonsense_Mutation_p.S32*|SNRPN_ENST00000577565.1_5'UTR|SNRPN_ENST00000554227.2_5'UTR			Q9Y675	SNURF_HUMAN	SNRPN upstream reading frame	32						nucleus (GO:0005634)				breast(2)|large_intestine(2)|lung(1)	5		all_cancers(20;1.4e-21)|Breast(32;0.000625)		all cancers(64;3.48e-07)|Epithelial(43;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0142)		AGGACTGCCTCACTGAGCAAC	0.453																																																0													137	104	115					15																	25207341		2203	4300	6503	SO:0001587	stop_gained	8926				CCDS10016.1	15q11.2	2013-08-27			ENSG00000214265	ENSG00000214265			11171	protein-coding gene	gene with protein product						10318933	Standard	NM_022804		Approved		uc001ywu.3	Q9Y675	OTTHUMG00000129181	ENST00000577949.1:c.95C>A	chr15.hg19:g.25207341C>A	ENSP00000463201:p.Ser32*		A6NCW2	Nonsense_Mutation	SNP	ENST00000577949.1	hg19	CCDS10016.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.359258	0.82353	.	.	ENSG00000214265	ENST00000338094;ENST00000338327	.	.	.	3.76	3.76	0.43208	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.4824	11.3845	0.49776	0.0:1.0:0.0:0.0	.	.	.	.	X	32	.	ENSP00000336543:S32X	S	+	2	0	SNURF	22758434	0.993000	0.37304	0.937000	0.37676	0.838000	0.47535	2.269000	0.43346	2.412000	0.81896	0.655000	0.94253	TCA		0.453	SNURF-005	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446300.1	NM_005678		A	25207341	C	A	25207341	4	1	781	1	0	0	0	0	0	1	0	0	14884	838	29	4	101	4	SNURF	15	25207341	Nonsense_Mutation	SNP	C	TCGA-PJ-A8JU-01A-11D-A35Z-10		25207341	77324051	58	46216											
GLCE	26035	hgsc.bcm.edu	37	15	69548297	69548297	+	Missense_Mutation	SNP	G	G	A			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr15:69548297G>A	ENST00000261858.2	+	3	380	c.152G>A	c.(151-153)gGg>gAg	p.G51E	GLCE_ENST00000559420.2_5'UTR	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN	glucuronic acid epimerase	51					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	heparosan-N-sulfate-glucuronate 5-epimerase activity (GO:0047464)|racemase and epimerase activity, acting on carbohydrates and derivatives (GO:0016857)|UDP-glucuronate 5'-epimerase activity (GO:0050379)			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						AGAGTGGATGGGTTTGAAAAA	0.463																																																0													90	87	88					15																	69548297		2200	4298	6498	SO:0001583	missense	26035			AB020643	CCDS32277.1	15q23	2007-01-30	2007-01-30			ENSG00000138604	5.1.3.12		17855	protein-coding gene	gene with protein product	"heparan sulfate epimerase"	612134	"D-glucuronyl C5-epimerase", "UDP-glucuronic acid epimerase"			15853773	Standard	NM_015554		Approved	KIAA0836, HSEPI	uc002ary.1	O94923		ENST00000261858.2:c.152G>A	chr15.hg19:g.69548297G>A	ENSP00000261858:p.Gly51Glu		Q6GUQ2	Missense_Mutation	SNP	ENST00000261858.2	hg19	CCDS32277.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.034619	0.35893	.	.	ENSG00000138604	ENST00000261858	T	0.32753	1.44	5.3	3.42	0.39159	.	0.261099	0.38164	N	0.001783	T	0.21962	0.0529	L	0.36672	1.1	0.33073	D	0.535579	B	0.33694	0.421	B	0.27500	0.08	T	0.29088	-1.0023	10	0.62326	D	0.03	-2.6096	10.3667	0.44028	0.0:0.1541:0.699:0.1469	.	51	O94923	GLCE_HUMAN	E	51	ENSP00000261858:G51E	ENSP00000261858:G51E	G	+	2	0	GLCE	67335351	1.000000	0.71417	0.914000	0.36105	0.752000	0.42762	5.519000	0.67074	0.722000	0.32252	0.655000	0.94253	GGG		0.463	GLCE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015554		A	69548297	G	A	69548297	3	1	781	1	0	0	0	0	1	0	0	0	6434	1232	43	2	154	2	GLCE	15	69548297	Missense_Mutation	SNP	G	TCGA-PJ-A8JU-01A-11D-A35Z-10	44340956	69548297	32983095	59	46217											
GOLGA6B	55889	hgsc.bcm.edu	37	15	72947139	72947139	+	Frame_Shift_Del	DEL	A	A	-			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr15:72947139delA	ENST00000421285.3	+	1	61	c.61delA	c.(61-63)aaafs	p.K21fs		NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	21						Golgi apparatus (GO:0005794)				NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						TCGACAGAATAAATTGGCAGC	0.522																																																0																																										SO:0001589	frameshift_variant	55889				CCDS10245.2	15q24.1	2011-10-25	2010-02-12		ENSG00000215186	ENSG00000215186			32205	protein-coding gene	gene with protein product			"golgi autoantigen, golgin subfamily a, 6B"				Standard	XM_006720604		Approved		uc010uks.1	A6NDN3	OTTHUMG00000133511	ENST00000421285.3:c.61delA	chr15.hg19:g.72947139delA	ENSP00000408132:p.Lys21fs		A8MYY7	Frame_Shift_Del	DEL	ENST00000421285.3	hg19	CCDS10245.2																																																																																				0.522	GOLGA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257474.4	NM_018652		-	72947139	A	-	72947139	7	5	781	1	0	1	0	1	0	0	0	0	6560	363	13	0	63	0	GOLGA6B	15	72947139	Frame_Shift_Del	DEL	A	TCGA-PJ-A8JU-01A-11D-A35Z-10	3398842	72947139	29584253	60	46218											
CYP1A2	1544	hgsc.bcm.edu	37	15	75042653	75042653	+	Missense_Mutation	SNP	G	G	A			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr15:75042653G>A	ENST00000343932.4	+	2	637	c.574G>A	c.(574-576)Gtg>Atg	p.V192M		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	192					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)"	TTACAATCAGGTGGTGGTGTC	0.567																																																0													244	192	210					15																	75042653		2197	4296	6493	SO:0001583	missense	1544			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.574G>A	chr15.hg19:g.75042653G>A	ENSP00000342007:p.Val192Met		Q16754|Q6NWU5|Q9BXX7|Q9UK49	Missense_Mutation	SNP	ENST00000343932.4	hg19	CCDS32293.1	.	.	.	.	.	.	.	.	.	.	G	10.79	1.450299	0.26074	.	.	ENSG00000140505	ENST00000343932	T	0.70631	-0.5	4.98	-3.32	0.04973	.	0.338015	0.32593	N	0.005883	T	0.72946	0.3524	M	0.64080	1.96	0.26746	N	0.970298	D	0.62365	0.991	P	0.60286	0.872	T	0.67837	-0.5567	10	0.62326	D	0.03	.	8.2501	0.31712	0.3197:0.4156:0.2647:0.0	.	192	P05177-2	.	M	192	ENSP00000342007:V192M	ENSP00000342007:V192M	V	+	1	0	CYP1A2	72829706	0.028000	0.19301	0.002000	0.10522	0.002000	0.02628	0.368000	0.20399	-0.525000	0.06391	-0.254000	0.11334	GTG		0.567	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421263.2	NM_000761		A	75042653	G	A	75042653	3	1	781	1	0	0	0	0	1	0	0	0	4152	1261	44	2	576	2	CYP1A2	15	75042653	Missense_Mutation	SNP	G	TCGA-PJ-A8JU-01A-11D-A35Z-10	2095514	75042653	27488739	61	46219											
GOLGA6C	653641	hgsc.bcm.edu	37	15	75562489	75562489	+	Silent	SNP	C	C	T			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr15:75562489C>T	ENST00000300576.5	+	18	2031	c.2031C>T	c.(2029-2031)aaC>aaT	p.N677N	RN7SL489P_ENST00000486185.2_RNA	NM_001164404.1	NP_001157876.1	A6NDK9	GOG6C_HUMAN	golgin A6 family, member C	677						Golgi apparatus (GO:0005794)				ovary(1)	1						CCCATGACAACCCCCCGGTAC	0.602																																																0													50	62	58					15																	75562489		665	1575	2240	SO:0001819	synonymous_variant	653641				CCDS58388.1	15q24.2	2014-02-12	2010-02-12		ENSG00000167195	ENSG00000167195			32206	protein-coding gene	gene with protein product			"golgi autoantigen, golgin subfamily a, 6C"				Standard	NM_001164404		Approved		uc002azs.2	A6NDK9	OTTHUMG00000172671	ENST00000300576.5:c.2031C>T	chr15.hg19:g.75562489C>T				Silent	SNP	ENST00000300576.5	hg19	CCDS58388.1																																																																																				0.602	GOLGA6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419797.1	NM_001164404		T	75562489	C	T	75562489	2	4	781	1	0	0	0	0	0	0	0	1	6561	506	18	2		2	GOLGA6C	15	75562489	Silent	SNP	C	TCGA-PJ-A8JU-01A-11D-A35Z-10	519836	75562489	26968903	62	46220											
NR2F2	7026	hgsc.bcm.edu	37	15	96880778	96880778	+	Missense_Mutation	SNP	C	C	A			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr15:96880778C>A	ENST00000394166.3	+	3	2561	c.1172C>A	c.(1171-1173)cCc>cAc	p.P391H	NR2F2_ENST00000453270.2_Missense_Mutation_p.P238H|NR2F2_ENST00000394171.2_Missense_Mutation_p.P238H|NR2F2_ENST00000421109.2_Missense_Mutation_p.P258H	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	391	Important for dimerization.|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)			GGTAAAACCCCCATCGAAACC	0.463																																																0													151	147	148					15																	96880778		2197	4298	6495	SO:0001583	missense	7026			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.1172C>A	chr15.hg19:g.96880778C>A	ENSP00000377721:p.Pro391His		B4DQJ2|B6ZGU1|Q03754|Q3KQR7	Missense_Mutation	SNP	ENST00000394166.3	hg19	CCDS10375.1	.	.	.	.	.	.	.	.	.	.	C	18.16	3.562655	0.65538	.	.	ENSG00000185551	ENST00000421109;ENST00000394166;ENST00000394171;ENST00000453270	T;T;D;D	0.95137	0.5;0.5;-3.62;-3.62	5.44	5.44	0.79542	Nuclear hormone receptor, ligand-binding (2);	0.000000	0.85682	D	0.000000	D	0.97300	0.9117	M	0.78285	2.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.987	D	0.97614	1.0131	10	0.87932	D	0	.	19.6189	0.95647	0.0:1.0:0.0:0.0	.	391;258	P24468;Q3KQR7	COT2_HUMAN;.	H	258;391;238;238	ENSP00000401674:P258H;ENSP00000377721:P391H;ENSP00000377726:P238H;ENSP00000389853:P238H	ENSP00000377721:P391H	P	+	2	0	NR2F2	94681782	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.698000	0.92095	0.650000	0.86243	CCC		0.463	NR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313534.1			A	96880778	C	A	96880778	3	1	781	1	0	0	0	0	1	0	0	0	10630	623	22	4	1229	4	NR2F2	15	96880778	Missense_Mutation	SNP	C	TCGA-PJ-A8JU-01A-11D-A35Z-10	21318289	96880778	5650614	63	46221											
ZG16B	124220	hgsc.bcm.edu	37	16	2880794	2880794	+	Missense_Mutation	SNP	A	A	T			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr16:2880794A>T	ENST00000382280.3	+	3	339	c.260A>T	c.(259-261)aAa>aTa	p.K87I	ZG16B_ENST00000572863.1_Missense_Mutation_p.K57I	NM_145252.2	NP_660295.2	Q96DA0	ZG16B_HUMAN	zymogen granule protein 16B	87					retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						CTCCTGGTGAAAAGGTGAGTA	0.562																																																0													139	147	144					16																	2880794		2015	4157	6172	SO:0001583	missense	124220			BC009722	CCDS10479.2	16p13.3	2014-02-12	2012-12-07		ENSG00000162078	ENSG00000162078			30456	protein-coding gene	gene with protein product	"jacalin-like lectin domain containing 2"		"zymogen granule protein 16 homolog B (rat)"			12477932	Standard	NM_145252		Approved	HRPE773, PRO1567, JCLN2	uc002cru.3	Q96DA0	OTTHUMG00000128933	ENST00000382280.3:c.260A>T	chr16.hg19:g.2880794A>T	ENSP00000371715:p.Lys87Ile		A6NIY1|B2R4F6|Q6UW28	Missense_Mutation	SNP	ENST00000382280.3	hg19	CCDS10479.2	.	.	.	.	.	.	.	.	.	.	a	12.20	1.866528	0.32977	.	.	ENSG00000162078	ENST00000382280	T	0.30981	1.51	3.4	-1.96	0.07525	Mannose-binding lectin (3);	2.708630	0.01864	N	0.036792	T	0.30008	0.0751	N	0.14661	0.345	0.09310	N	0.999999	D	0.67145	0.996	D	0.66716	0.946	T	0.15983	-1.0418	10	0.33141	T	0.24	-8.9085	0.1357	0.00078	0.3502:0.1732:0.2343:0.2422	.	87	Q96DA0	ZG16B_HUMAN	I	87	ENSP00000371715:K87I	ENSP00000371715:K87I	K	+	2	0	ZG16B	2820795	0.002000	0.14202	0.006000	0.13384	0.005000	0.04900	0.180000	0.16860	-0.466000	0.06943	-0.295000	0.09555	AAA		0.562	ZG16B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250912.1	NM_145252		T	2880794	A	T	2880794	3	4	781	1	0	0	0	0	1	0	0	0	17677	14	1	5	270	5	ZG16B	16	2880794	Missense_Mutation	SNP	A	TCGA-PJ-A8JU-01A-11D-A35Z-10		2880794	87473959	64	46222											
IL32	9235	hgsc.bcm.edu	37	16	3119166	3119166	+	Frame_Shift_Del	DEL	T	T	-			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr16:3119166delT	ENST00000534507.1	+	6	726	c.515delT	c.(514-516)gttfs	p.V172fs	IL32_ENST00000552356.1_Frame_Shift_Del_p.V106fs|IL32_ENST00000530890.1_Frame_Shift_Del_p.V106fs|RNU1-125P_ENST00000516752.1_RNA|IL32_ENST00000552936.1_Frame_Shift_Del_p.V150fs|IL32_ENST00000325568.5_Frame_Shift_Del_p.V126fs|IL32_ENST00000529699.1_Frame_Shift_Del_p.V106fs|IL32_ENST00000008180.9_Frame_Shift_Del_p.V106fs|IL32_ENST00000552664.1_Frame_Shift_Del_p.V126fs|IL32_ENST00000551122.1_Intron|IL32_ENST00000440815.3_Frame_Shift_Del_p.V126fs|IL32_ENST00000533097.2_Frame_Shift_Del_p.V126fs|IL32_ENST00000549213.1_Intron|IL32_ENST00000548476.1_Frame_Shift_Del_p.V172fs|IL32_ENST00000396887.3_Intron|IL32_ENST00000444393.3_Frame_Shift_Del_p.V126fs|IL32_ENST00000382213.3_Frame_Shift_Del_p.V117fs|IL32_ENST00000530538.2_Frame_Shift_Del_p.V126fs|IL32_ENST00000548246.1_Frame_Shift_Del_p.V86fs|IL32_ENST00000548652.1_Frame_Shift_Del_p.V117fs|IL32_ENST00000396890.2_Frame_Shift_Del_p.V172fs|IL32_ENST00000526464.2_Frame_Shift_Del_p.V126fs|IL32_ENST00000529550.1_Frame_Shift_Del_p.V126fs|IL32_ENST00000531965.1_Frame_Shift_Del_p.V116fs|IL32_ENST00000551513.1_Frame_Shift_Del_p.V163fs|IL32_ENST00000525643.2_Frame_Shift_Del_p.V126fs|IL32_ENST00000528163.2_Frame_Shift_Del_p.V126fs			P24001	IL32_HUMAN	interleukin 32	172					cell adhesion (GO:0007155)|defense response (GO:0006952)|immune response (GO:0006955)	extracellular space (GO:0005615)|membrane (GO:0016020)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						TGGCACGGGGTTCTGGCCTGG	0.602																																																0													21	25	24					16																	3119166		2192	4276	6468	SO:0001589	frameshift_variant	9235			M59807	CCDS32377.1, CCDS32378.1, CCDS32379.1, CCDS45394.1	16p13.3	2011-07-21			ENSG00000008517	ENSG00000008517		"Interleukins and interleukin receptors"	16830	protein-coding gene	gene with protein product	"natural killer cell transcript 4"	606001				1729377, 9653642	Standard	XM_005255686		Approved	NK4, TAIF, TAIFb, TAIFd	uc002ctn.3	P24001	OTTHUMG00000167498	ENST00000534507.1:c.515delT	chr16.hg19:g.3119166delT	ENSP00000431775:p.Val172fs		A6NNM0|A8MPX0|B4DJM1|B8Q191|D3DUB0|D3DUB2|Q5VFH7|Q5VFH8|Q8WV38|Q96GK9	Frame_Shift_Del	DEL	ENST00000534507.1	hg19																																																																																					0.602	IL32-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000394812.2	NM_004221		-	3119166	T	-	3119166	7	5	781	1	0	1	0	1	0	0	0	0	7694	1725	60	0	399	0	IL32	16	3119166	Frame_Shift_Del	DEL	T	TCGA-PJ-A8JU-01A-11D-A35Z-10	238372	3119166	87235587	65	46223											
SETD1A	9739	hgsc.bcm.edu	37	16	30976438	30976439	+	Frame_Shift_Ins	INS	-	-	C			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr16:30976438_30976439insC	ENST00000262519.8	+	7	2061_2062	c.1375_1376insC	c.(1375-1377)tccfs	p.S459fs		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	459	Pro-rich. {ECO:0000255}.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						AGTTCGGACTTCCCCCCGCCCA	0.698																																																0																																										SO:0001589	frameshift_variant	9739			AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"Chromatin-modifying enzymes / K-methyltransferases", "RNA binding motif (RRM) containing"	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.1381dupC	chr16.hg19:g.30976444_30976444dupC	ENSP00000262519:p.Ser459fs		A6NP62|Q6PIF3|Q8TAJ6	Frame_Shift_Ins	INS	ENST00000262519.8	hg19	CCDS32435.1																																																																																				0.698	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		C	30976439	-	C	30976438	7	5	781	1	0	1	1	0	0	0	0	0	14136	1783	62	0	1397	0	SETD1A	16	30976438	Frame_Shift_Ins	INS	-	TCGA-PJ-A8JU-01A-11D-A35Z-10	27857272	30976438	59378315	66	46224											
GOT2	2806	hgsc.bcm.edu	37	16	58742096	58742096	+	Frame_Shift_Del	DEL	G	G	-			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr16:58742096delG	ENST00000245206.5	-	10	1400	c.1272delC	c.(1270-1272)gccfs	p.A424fs	GOT2_ENST00000434819.2_Frame_Shift_Del_p.A381fs	NM_002080.2	NP_002071.2	P00505	AATM_HUMAN	glutamic-oxaloacetic transaminase 2, mitochondrial	424					2-oxoglutarate metabolic process (GO:0006103)|4-hydroxyproline catabolic process (GO:0019470)|aspartate biosynthetic process (GO:0006532)|aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|carbohydrate metabolic process (GO:0005975)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|fatty acid transport (GO:0015908)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glutamate catabolic process to 2-oxoglutarate (GO:0019551)|glutamate catabolic process to aspartate (GO:0019550)|glutamate metabolic process (GO:0006536)|oxaloacetate metabolic process (GO:0006107)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	kynurenine-oxoglutarate transaminase activity (GO:0016212)|L-aspartate:2-oxoglutarate aminotransferase activity (GO:0004069)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|poly(A) RNA binding (GO:0044822)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22					L-Aspartic Acid(DB00128)	CCTGGTGAATGGCATGGGCAA	0.527																																																0													74	67	70					16																	58742096		2198	4300	6498	SO:0001589	frameshift_variant	2806				CCDS10801.1, CCDS67045.1	16q21	2013-05-29	2013-05-29		ENSG00000125166	ENSG00000125166	2.6.1.1		4433	protein-coding gene	gene with protein product	"kynurenine aminotransferase IV", "aspartate aminotransferase 2", "aspartate transaminase 2"	138150	"glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2)"			17442055	Standard	NM_002080		Approved	mitAAT, KATIV, KAT4	uc002eof.1	P00505	OTTHUMG00000133769	ENST00000245206.5:c.1272delC	chr16.hg19:g.58742096delG	ENSP00000245206:p.Ala424fs		B4DJA6|E7ERW2|Q53FL3|Q9BWA3	Frame_Shift_Del	DEL	ENST00000245206.5	hg19	CCDS10801.1																																																																																				0.527	GOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258289.3			-	58742096	G	-	58742096	7	5	781	1	0	1	0	1	0	0	0	0	6583	1335	47	0	24	0	GOT2	16	58742096	Frame_Shift_Del	DEL	G	TCGA-PJ-A8JU-01A-11D-A35Z-10	27765658	58742096	31612657	67	46225											
CES8	283848	hgsc.bcm.edu	37	16	67038021	67038021	+	Missense_Mutation	SNP	T	T	A	rs3859072		TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr16:67038021T>A	ENST00000326686.5	+	9	974	c.974T>A	c.(973-975)gTg>gAg	p.V325E	CES4A_ENST00000540947.2_Missense_Mutation_p.V325E|CES4A_ENST00000535696.1_Missense_Mutation_p.V231E|CES4A_ENST00000398354.1_Missense_Mutation_p.V325E|CES4A_ENST00000541479.1_Missense_Mutation_p.V348E|CES4A_ENST00000338718.4_Missense_Mutation_p.V348E|CES4A_ENST00000540579.1_Missense_Mutation_p.V227E			Q5XG92	EST4A_HUMAN	carboxylesterase 4A	325						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						GTGGATGGTGTGGTGATCCCA	0.532																																																0													231	234	233					16																	67038021		2056	4189	6245	SO:0001583	missense	283848			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.974T>A	chr16.hg19:g.67038021T>A	ENSP00000314145:p.Val325Glu		A8KAJ6|B7Z349|B7Z3L2|B7Z6R3|Q6UX55|Q8N9F4	Missense_Mutation	SNP	ENST00000326686.5	hg19		.	.	.	.	.	.	.	.	.	.	t	8.048	0.765292	0.15914	.	.	ENSG00000172824	ENST00000540947;ENST00000541479;ENST00000338718;ENST00000398354;ENST00000326686;ENST00000538199;ENST00000540579;ENST00000535696	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	4.63	3.51	0.40186	Carboxylesterase, type B (1);	0.321128	0.21974	N	0.066417	T	0.43144	0.1234	N	0.21324	0.655	0.37145	D	0.901879	P;P;B;B	0.38370	0.628;0.496;0.001;0.049	B;B;B;B	0.34489	0.137;0.184;0.029;0.029	T	0.43196	-0.9406	10	0.39692	T	0.17	.	8.757	0.34652	0.1697:0.0:0.0:0.8303	.	231;348;325;348	Q5XG92-7;F8WEE9;Q5XG92;F5H5S4	.;.;EST4A_HUMAN;.	E	325;348;348;325;325;288;227;231	ENSP00000444052:V325E;ENSP00000443175:V348E;ENSP00000340714:V348E;ENSP00000381397:V325E;ENSP00000314145:V325E;ENSP00000441103:V288E;ENSP00000441907:V227E;ENSP00000441644:V231E	ENSP00000314145:V325E	V	+	2	0	CES4A	65595522	0.833000	0.29383	0.102000	0.21198	0.070000	0.16714	1.730000	0.38125	0.612000	0.30071	0.398000	0.26397	GTG		0.532	CES4A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173815		A	67038021	T	A	67038021	3	1	781	1	0	0	0	0	1	0	0	0	3275	1696	59	5	1089	5	CES8	16	67038021	Missense_Mutation	SNP	T	TCGA-PJ-A8JU-01A-11D-A35Z-10	8295925	67038021	23316732	68	46226											
OR1A1	8383	hgsc.bcm.edu	37	17	3119721	3119721	+	Silent	SNP	C	C	T			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr17:3119721C>T	ENST00000304094.1	+	1	807	c.807C>T	c.(805-807)gaC>gaT	p.D269D		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, 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)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						GCCTAAAAGACGCAGTGATCA	0.478																																																0													153	135	141					17																	3119721		2203	4300	6503	SO:0001819	synonymous_variant	8383			AF087918	CCDS11022.1	17p13.3	2012-08-09			ENSG00000172146	ENSG00000172146		"GPCR / Class A : Olfactory receptors"	8179	protein-coding gene	gene with protein product						10673334	Standard	NM_014565		Approved	OR17-7	uc010vrc.2	Q9P1Q5	OTTHUMG00000090637	ENST00000304094.1:c.807C>T	chr17.hg19:g.3119721C>T			A5D914|Q6IFM1|Q6NTA9|Q96R87	Silent	SNP	ENST00000304094.1	hg19	CCDS11022.1																																																																																				0.478	OR1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207292.1	NM_014565		T	3119721	C	T	3119721	2	4	781	1	0	0	0	0	0	0	0	1	10951	535	19	1		1	OR1A1	17	3119721	Silent	SNP	C	TCGA-PJ-A8JU-01A-11D-A35Z-10		3119721	78075489	69	46227											
MYH1	4619	hgsc.bcm.edu	37	17	10404016	10404016	+	Missense_Mutation	SNP	C	C	G			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr17:10404016C>G	ENST00000226207.5	-	28	3886	c.3792G>C	c.(3790-3792)aaG>aaC	p.K1264N	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	1264					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						CTTCCTTGGTCTTAATTTCAC	0.493																																																0													164	143	150					17																	10404016		2203	4300	6503	SO:0001583	missense	4619				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"Myosins / Myosin superfamily : Class II"	7567	protein-coding gene	gene with protein product	"myosin heavy chain IIx/d"	160730	"myosin, heavy polypeptide 1, skeletal muscle, adult"			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.3792G>C	chr17.hg19:g.10404016C>G	ENSP00000226207:p.Lys1264Asn		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	hg19	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.144571	0.77888	.	.	ENSG00000109061	ENST00000226207	D	0.83673	-1.75	5.45	4.26	0.50523	Myosin tail (1);	0.000000	0.45126	U	0.000393	T	0.76248	0.3961	L	0.49513	1.565	0.42767	D	0.993824	B	0.12630	0.006	B	0.20577	0.03	T	0.68401	-0.5418	10	0.18710	T	0.47	.	10.9761	0.47467	0.0:0.8405:0.0:0.1595	.	1264	P12882	MYH1_HUMAN	N	1264	ENSP00000226207:K1264N	ENSP00000226207:K1264N	K	-	3	2	MYH1	10344741	0.916000	0.31088	1.000000	0.80357	0.996000	0.88848	0.626000	0.24492	2.716000	0.92895	0.650000	0.86243	AAG		0.493	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		G	10404016	C	G	10404016	3	3	781	1	0	0	0	0	1	0	0	0	10031	912	32	4	2079	4	MYH1	17	10404016	Missense_Mutation	SNP	C	TCGA-PJ-A8JU-01A-11D-A35Z-10	7284295	10404016	70791194	70	46228											
GRB7	2886	hgsc.bcm.edu	37	17	37903002	37903002	+	Splice_Site	SNP	A	A	C			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr17:37903002A>C	ENST00000309156.4	+	15	1709		c.e15-1		GRB7_ENST00000394209.2_Splice_Site|GRB7_ENST00000394204.1_Splice_Site|GRB7_ENST00000394211.3_Splice_Site|GRB7_ENST00000445327.2_Splice_Site|GRB7_ENST00000309185.3_Splice_Site	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7						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)			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)			ACTGTACCCCAGAGCGAGGAG	0.602																																																0													73	70	71					17																	37903002		2203	4300	6503	SO:0001630	splice_region_variant	2886			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.1453-1A>C	chr17.hg19:g.37903002A>C			B2RAV1|B3KNL0|B3KWP9|B7WP75|J3KQM4|Q53YD3|Q92568|Q96DF9|Q9Y220	Splice_Site	SNP	ENST00000309156.4	hg19	CCDS11345.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.106122	0.77096	.	.	ENSG00000141738	ENST00000309156;ENST00000394211;ENST00000394209;ENST00000445327	.	.	.	4.8	4.8	0.61643	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4461	0.61142	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GRB7	35156528	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	8.595000	0.90840	2.017000	0.59298	0.482000	0.46254	.		0.602	GRB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257024.2	NM_005310	Intron	C	37903002	A	C	37903002	5	2	781	1	0	0	0	0	0	0	1	0	6761	202	7	5	1505	5	GRB7	17	37903002	Splice_Site	SNP	A	TCGA-PJ-A8JU-01A-11D-A35Z-10	27498986	37903002	43292208	71	46229											
KRT28	162605	hgsc.bcm.edu	37	17	38955927	38955927	+	Silent	SNP	G	G	A			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr17:38955927G>A	ENST00000306658.7	-	1	284	c.219C>T	c.(217-219)ggC>ggT	p.G73G		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)				TTCCAGCAAAGCCAATACAAG	0.532																																					Melanoma(19;789 869 15380 26882 39836)											0													78	77	77					17																	38955927		2203	4300	6503	SO:0001819	synonymous_variant	162605			AK129827	CCDS11376.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000173908	ENSG00000173908		"-", "Intermediate filaments type I, keratins (acidic)"	30842	protein-coding gene	gene with protein product			"keratin 25D"	KRT25D		16831889	Standard	NM_181535		Approved		uc002hvh.1	Q7Z3Y7	OTTHUMG00000133365	ENST00000306658.7:c.219C>T	chr17.hg19:g.38955927G>A				Silent	SNP	ENST00000306658.7	hg19	CCDS11376.1																																																																																				0.532	KRT28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257201.2	NM_181535		A	38955927	G	A	38955927	2	1	781	1	0	0	0	0	0	0	0	1	8467	958	34	2		2	KRT28	17	38955927	Silent	SNP	G	TCGA-PJ-A8JU-01A-11D-A35Z-10	1052925	38955927	42239283	72	46230											
KRT33B	3884	hgsc.bcm.edu	37	17	39521769	39521769	+	Missense_Mutation	SNP	G	G	T			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr17:39521769G>T	ENST00000251646.3	-	4	674	c.625C>A	c.(625-627)Ctc>Atc	p.L209I		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	209	Linker 12.|Rod.				aging (GO:0007568)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				TCCACGTTGAGGCGGTCTCCA	0.527																																																0													58	58	58					17																	39521769		2191	4300	6491	SO:0001583	missense	3884			X82634	CCDS11389.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131738	ENSG00000131738		"-", "Intermediate filaments type I, keratins (acidic)"	6451	protein-coding gene	gene with protein product	"hard keratin type I 3II"	602762	"keratin, hair, acidic, 3B"	KRTHA3B		7565656, 16831889	Standard	NM_002279		Approved	Ha-3II	uc002hwl.4	Q14525	OTTHUMG00000133429	ENST00000251646.3:c.625C>A	chr17.hg19:g.39521769G>T	ENSP00000251646:p.Leu209Ile		O76010	Missense_Mutation	SNP	ENST00000251646.3	hg19	CCDS11389.1	.	.	.	.	.	.	.	.	.	.	g	19.30	3.800219	0.70567	.	.	ENSG00000131738	ENST00000251646	D	0.88741	-2.42	4.51	4.51	0.55191	Filament (1);	0.000000	0.56097	D	0.000035	D	0.91061	0.7187	L	0.52126	1.63	0.34950	D	0.751156	P	0.49961	0.93	D	0.63877	0.919	D	0.92304	0.5852	10	0.38643	T	0.18	.	11.734	0.51755	0.0:0.2947:0.7053:0.0	.	209	Q14525	KT33B_HUMAN	I	209	ENSP00000251646:L209I	ENSP00000251646:L209I	L	-	1	0	KRT33B	36775295	0.942000	0.31987	1.000000	0.80357	0.961000	0.63080	2.329000	0.43876	2.474000	0.83562	0.650000	0.86243	CTC		0.527	KRT33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257292.1	NM_002279		T	39521769	G	T	39521769	3	4	781	1	0	0	0	0	1	0	0	0	8472	1000	35	4	605	4	KRT33B	17	39521769	Missense_Mutation	SNP	G	TCGA-PJ-A8JU-01A-11D-A35Z-10	565842	39521769	41673441	73	46231											
C17orf57	124989	hgsc.bcm.edu	37	17	45452288	45452311	+	In_Frame_Del	DEL	AAAAACAGGTTTCGTCTACGGAAA	AAAAACAGGTTTCGTCTACGGAAA	-	rs370066816|rs377193277|rs377629904|rs554788706|rs144496511|rs536593341	byFrequency	TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	AAAAACAGGTTTCGTCTACGGAAA	AAAAACAGGTTTCGTCTACGGAAA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr17:45452288_45452311delAAAAACAGGTTTCGTCTACGGAAA	ENST00000331493.2	+	12	1739_1762	c.1328_1351delAAAAACAGGTTTCGTCTACGGAAA	c.(1327-1353)caaaaacaggtttcgtctacggaaaaa>caa	p.KQVSSTEK444del	EFCAB13_ENST00000517484.1_In_Frame_Del_p.KQVSSTEK348del	NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13	444						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.T449M(1)									TCCAGTCTCCAAAAACAGGTTTCGTCTACGGAAAAAACTGCAAT	0.357																																																1	Substitution - Missense(1)	lung(1)																																								SO:0001651	inframe_deletion	124989			BC036407	CCDS11512.1, CCDS56034.1	17q21.32	2013-01-11	2012-07-20	2012-07-20	ENSG00000178852	ENSG00000178852		"EF-hand domain containing"	26864	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 57"	C17orf57			Standard	NM_152347		Approved	FLJ40342	uc002iln.3	Q8IY85	OTTHUMG00000164767	ENST00000331493.2:c.1328_1351delAAAAACAGGTTTCGTCTACGGAAA	chr17.hg19:g.45452288_45452311delAAAAACAGGTTTCGTCTACGGAAA	ENSP00000332111:p.Lys444_Lys451del		G3V128|Q49AG9	In_Frame_Del	DEL	ENST00000331493.2	hg19	CCDS11512.1																																																																																				0.357	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380147.4	NM_152347		-	45452311	AAAAACAGGTTTCGTCTACGGAAA	-	45452288	7	5	781	1	0	1	0	1	0	0	0	0	1867	130	5	0	1362	0	C17orf57	17	45452288	In_Frame_Del	DEL	AAAAACAGGTTTCGTCTACGGAAA	TCGA-PJ-A8JU-01A-11D-A35Z-10	5930519	45452288	35742922	74	46232											
KPNB1	3837	hgsc.bcm.edu	37	17	45735997	45735997	+	Missense_Mutation	SNP	G	G	A			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr17:45735997G>A	ENST00000290158.4	+	5	1014	c.607G>A	c.(607-609)Gag>Aag	p.E203K	KPNB1_ENST00000537679.1_Missense_Mutation_p.E58K|KPNB1_ENST00000540627.1_Missense_Mutation_p.E58K|KPNB1_ENST00000535458.2_Missense_Mutation_p.E58K|KPNB1_ENST00000577918.1_3'UTR	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	203					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|protein import into nucleus (GO:0006606)|protein import into nucleus, translocation (GO:0000060)|ribosomal protein import into nucleus (GO:0006610)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(1)|ovary(1)|pancreas(1)|skin(1)	4						GAACTCATTGGAGTTCACCAA	0.378																																																0													80	77	78					17																	45735997		2203	4300	6503	SO:0001583	missense	3837			L39793	CCDS11513.1, CCDS62228.1	17q21.32	2013-02-14			ENSG00000108424	ENSG00000108424		"Importins", "Armadillo repeat containing"	6400	protein-coding gene	gene with protein product	"importin 1"	602738				7615630, 7627554	Standard	NM_002265		Approved	NTF97, IPOB, MGC2155, MGC2156, MGC2157, IMB1, Impnb, IPO1	uc002ilt.2	Q14974	OTTHUMG00000036957	ENST00000290158.4:c.607G>A	chr17.hg19:g.45735997G>A	ENSP00000290158:p.Glu203Lys		B7ZAV6|D3DTT3|Q14637|Q53XN2|Q96J27	Silent	SNP	ENST00000290158.4	hg19	CCDS11513.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.097962	0.76870	.	.	ENSG00000108424	ENST00000535458;ENST00000290158;ENST00000540627;ENST00000537679	T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36	6.02	6.02	0.97574	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.86272	0.5893	M	0.91818	3.245	0.47037	D	0.999291	D;D	0.89917	0.969;1.0	P;D	0.87578	0.89;0.998	D	0.85203	0.1016	9	0.36615	T	0.2	-3.7334	20.5407	0.99260	0.0:0.0:1.0:0.0	.	58;203	F5H4R7;Q14974	.;IMB1_HUMAN	K	58;203;58;58	ENSP00000438253:E58K;ENSP00000290158:E203K;ENSP00000438964:E58K;ENSP00000445006:E58K	ENSP00000290158:E203K	E	+	1	0	KPNB1	43090996	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.866000	0.99616	2.865000	0.98341	0.655000	0.94253	GAG		0.378	KPNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089755.2	NM_002265		A	45735997	G	A	45735997	3	1	781	1	0	0	0	0	1	0	0	0	8437	1175	41	2	625	2	KPNB1	17	45735997	Missense_Mutation	SNP	G	TCGA-PJ-A8JU-01A-11D-A35Z-10	283709	45735997	35459213	75	46233											
HOXB13	10481	hgsc.bcm.edu	37	17	46805780	46805780	+	Missense_Mutation	SNP	G	G	A			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr17:46805780G>A	ENST00000290295.7	-	1	760	c.176C>T	c.(175-177)cCg>cTg	p.P59L	PRAC2_ENST00000422730.2_RNA	NM_006361.5	NP_006352.2	Q92826	HXB13_HUMAN	homeobox B13	59					angiogenesis (GO:0001525)|epidermis development (GO:0008544)|epithelial cell maturation involved in prostate gland development (GO:0060743)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|response to testosterone (GO:0033574)|response to wounding (GO:0009611)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						TTGCTTTGGCGGCTCCGCCGA	0.652																																																0													42	50	48					17																	46805780		2201	4296	6497	SO:0001583	missense	10481			U57052	CCDS11536.1	17q21.32	2014-09-17	2005-12-22		ENSG00000159184	ENSG00000159184		"Homeoboxes / ANTP class : HOXL subclass"	5112	protein-coding gene	gene with protein product		604607	"homeo box B13"			8756292, 9665387	Standard	NM_006361		Approved		uc002ioa.3	Q92826	OTTHUMG00000159900	ENST00000290295.7:c.176C>T	chr17.hg19:g.46805780G>A	ENSP00000290295:p.Pro59Leu		B2R878|Q96QM4|Q99810	Missense_Mutation	SNP	ENST00000290295.7	hg19	CCDS11536.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.230315	0.79688	.	.	ENSG00000159184	ENST00000290295	T	0.52295	0.67	4.9	4.9	0.64082	.	0.191648	0.48286	D	0.000197	T	0.53302	0.1788	M	0.66939	2.045	0.54753	D	0.999989	D	0.54047	0.964	P	0.45712	0.491	T	0.62201	-0.6904	10	0.87932	D	0	.	16.7972	0.85605	0.0:0.0:1.0:0.0	.	59	Q92826	HXB13_HUMAN	L	59	ENSP00000290295:P59L	ENSP00000290295:P59L	P	-	2	0	HOXB13	44160779	0.923000	0.31300	0.854000	0.33618	0.824000	0.46624	4.091000	0.57700	2.544000	0.85801	0.462000	0.41574	CCG		0.652	HOXB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358087.3	NM_006361		A	46805780	G	A	46805780	3	1	781	1	0	0	0	0	1	0	0	0	7302	1116	39	1	686	1	HOXB13	17	46805780	Missense_Mutation	SNP	G	TCGA-PJ-A8JU-01A-11D-A35Z-10	1069783	46805780	34389430	76	46234											
DLX3	1747	hgsc.bcm.edu	37	17	48072155	48072155	+	Missense_Mutation	SNP	T	T	C			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr17:48072155T>C	ENST00000434704.2	-	1	433	c.208A>G	c.(208-210)Aat>Gat	p.N70D	DLX3_ENST00000512495.2_5'Flank|RP11-1094H24.3_ENST00000511867.1_lincRNA	NM_005220.2	NP_005211.1	O60479	DLX3_HUMAN	distal-less homeobox 3	70					blood vessel development (GO:0001568)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|placenta development (GO:0001890)	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						CCATTGAGATTGAATTGGTGG	0.597																																																0													101	106	104					17																	48072155		2203	4300	6503	SO:0001583	missense	1747				CCDS11556.1	17q21.33	2011-06-20	2005-12-22			ENSG00000064195		"Homeoboxes / ANTP class : NKL subclass"	2916	protein-coding gene	gene with protein product		600525	"distal-less homeo box 3"			7613049	Standard	NM_005220		Approved		uc002ipy.3	O60479		ENST00000434704.2:c.208A>G	chr17.hg19:g.48072155T>C	ENSP00000389870:p.Asn70Asp		B3KQL6	Missense_Mutation	SNP	ENST00000434704.2	hg19	CCDS11556.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.319787	0.81469	.	.	ENSG00000064195	ENST00000434704	D	0.90324	-2.65	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	D	0.92711	0.7683	M	0.77103	2.36	0.80722	D	1	D	0.57257	0.979	P	0.55508	0.777	D	0.90896	0.4765	10	0.19590	T	0.45	-21.8499	12.7113	0.57092	0.0:0.0:0.0:1.0	.	70	O60479	DLX3_HUMAN	D	70	ENSP00000389870:N70D	ENSP00000389870:N70D	N	-	1	0	DLX3	45427154	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.584000	0.67490	2.115000	0.64714	0.402000	0.26972	AAT		0.597	DLX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366307.1			C	48072155	T	C	48072155	3	2	781	1	0	0	0	0	1	0	0	0	4574	1812	63	3	667	3	DLX3	17	48072155	Missense_Mutation	SNP	T	TCGA-PJ-A8JU-01A-11D-A35Z-10	1266375	48072155	33123055	77	46235											
USP32	84669	hgsc.bcm.edu	37	17	58262881	58262881	+	Missense_Mutation	SNP	C	C	A			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr17:58262881C>A	ENST00000300896.4	-	30	3968	c.3774G>T	c.(3772-3774)aaG>aaT	p.K1258N	USP32_ENST00000592339.1_Missense_Mutation_p.K928N	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1258	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)			GGGTCTTACACTTGGAACAGT	0.537																																																0													121	111	114					17																	58262881		2203	4298	6501	SO:0001583	missense	84669			AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"Ubiquitin-specific peptidases", "EF-hand domain containing"	19143	protein-coding gene	gene with protein product		607740	"ubiquitin specific protease 32"			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.3774G>T	chr17.hg19:g.58262881C>A	ENSP00000300896:p.Lys1258Asn		Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	ENST00000300896.4	hg19	CCDS32697.1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.662725	0.67700	.	.	ENSG00000170832	ENST00000300896	T	0.31510	1.49	5.6	2.37	0.29283	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.37073	0.0990	L	0.28556	0.865	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.03148	-1.1067	10	0.24483	T	0.36	.	9.4228	0.38561	0.0:0.6358:0.0:0.3642	.	1258	Q8NFA0	UBP32_HUMAN	N	1258	ENSP00000300896:K1258N	ENSP00000300896:K1258N	K	-	3	2	USP32	55617663	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.057000	0.30492	0.253000	0.21552	0.650000	0.86243	AAG		0.537	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	NM_032582		A	58262881	C	A	58262881	3	1	781	1	0	0	0	0	1	0	0	0	17068	564	20	4	1060	4	USP32	17	58262881	Missense_Mutation	SNP	C	TCGA-PJ-A8JU-01A-11D-A35Z-10	10190726	58262881	22932329	78	46236											
MED13	9969	hgsc.bcm.edu	37	17	60039087	60039087	+	Silent	SNP	G	G	T			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr17:60039087G>T	ENST00000397786.2	-	22	5194	c.5118C>A	c.(5116-5118)atC>atA	p.I1706I		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1706					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.I1706I(1)		breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GCTGGGGATAGATTTCTCTAT	0.403																																																1	Substitution - coding silent(1)	large_intestine(1)											138	138	138					17																	60039087		1824	4076	5900	SO:0001819	synonymous_variant	9969			AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"thyroid hormone receptor associated protein 1"	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.5118C>A	chr17.hg19:g.60039087G>T			B2RU05|O60334	Silent	SNP	ENST00000397786.2	hg19	CCDS42366.1																																																																																				0.403	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		T	60039087	G	T	60039087	2	4	781	1	0	0	0	0	0	0	0	1	9432	932	33	4		4	MED13	17	60039087	Silent	SNP	G	TCGA-PJ-A8JU-01A-11D-A35Z-10	1776206	60039087	21156123	79	46237											
MRC2	9902	hgsc.bcm.edu	37	17	60743875	60743875	+	Frame_Shift_Del	DEL	A	A	-			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr17:60743875delA	ENST00000303375.5	+	4	1156	c.754delA	c.(754-756)aacfs	p.N252fs		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	252	C-type lectin 1. {ECO:0000255|PROSITE- ProRule:PRU00040}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CTACCAGTTTAACTTCCAGTC	0.617																																																0													57	60	59					17																	60743875		2203	4300	6503	SO:0001589	frameshift_variant	9902			AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"CD molecules", "C-type lectin domain containing"	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.754delA	chr17.hg19:g.60743875delA	ENSP00000307513:p.Asn252fs		A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Frame_Shift_Del	DEL	ENST00000303375.5	hg19	CCDS11634.1																																																																																				0.617	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445152.1			-	60743875	A	-	60743875	7	5	781	1	0	1	0	1	0	0	0	0	9760	362	13	0	768	0	MRC2	17	60743875	Frame_Shift_Del	DEL	A	TCGA-PJ-A8JU-01A-11D-A35Z-10	704788	60743875	20451335	80	46238											
ACE	1636	hgsc.bcm.edu	37	17	61558530	61558530	+	Missense_Mutation	SNP	C	C	G			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr17:61558530C>G	ENST00000290866.4	+	6	950	c.926C>G	c.(925-927)aCc>aGc	p.T309S	ACE_ENST00000428043.1_Missense_Mutation_p.T309S|ACE_ENST00000538928.1_Missense_Mutation_p.T309S|ACE_ENST00000584529.1_3'UTR	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	309	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)	CTCGATGTCACCAGTACTATG	0.587																																																0													104	90	95					17																	61558530		2203	4300	6503	SO:0001583	missense	1636			J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"CD molecules"	2707	protein-coding gene	gene with protein product	"peptidyl-dipeptidase A"	106180	"angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.926C>G	chr17.hg19:g.61558530C>G	ENSP00000290866:p.Thr309Ser		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	ENST00000290866.4	hg19	CCDS11637.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.375723	0.61735	.	.	ENSG00000159640	ENST00000538928;ENST00000290866;ENST00000428043	T;T;T	0.40476	1.03;1.03;1.03	4.21	4.21	0.49690	.	0.000000	0.85682	D	0.000000	T	0.62073	0.2398	M	0.65677	2.01	0.80722	D	1	D;D;B	0.71674	0.998;0.996;0.162	D;D;B	0.75020	0.985;0.977;0.245	T	0.64343	-0.6430	10	0.45353	T	0.12	-36.2495	16.7665	0.85525	0.0:1.0:0.0:0.0	.	309;309;309	F5H1K1;P12821-2;P12821	.;.;ACE_HUMAN	S	309	ENSP00000439591:T309S;ENSP00000290866:T309S;ENSP00000397593:T309S	ENSP00000290866:T309S	T	+	2	0	ACE	58912262	1.000000	0.71417	0.397000	0.26308	0.867000	0.49689	4.748000	0.62148	2.180000	0.69256	0.561000	0.74099	ACC		0.587	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2			G	61558530	C	G	61558530	3	3	781	1	0	0	0	0	1	0	0	0	136	507	18	4	948	4	ACE	17	61558530	Missense_Mutation	SNP	C	TCGA-PJ-A8JU-01A-11D-A35Z-10	814655	61558530	19636680	81	46239											
SOCS3	9021	hgsc.bcm.edu	37	17	76355088	76355088	+	Missense_Mutation	SNP	T	T	C			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr17:76355088T>C	ENST00000330871.2	-	2	504	c.89A>G	c.(88-90)gAg>gGg	p.E30G	RP11-806H10.4_ENST00000592569.1_lincRNA	NM_003955.3	NP_003946.3	O14543	SOCS3_HUMAN	suppressor of cytokine signaling 3	30	Kinase inhibitory region (KIR).				branching involved in labyrinthine layer morphogenesis (GO:0060670)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein kinase activity (GO:0006469)|placenta blood vessel development (GO:0060674)|positive regulation of cell differentiation (GO:0045597)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|spongiotrophoblast differentiation (GO:0060708)|trophoblast giant cell differentiation (GO:0060707)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)	protein kinase inhibitor activity (GO:0004860)			kidney(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(99;0.000688)|OV - Ovarian serous cystadenocarcinoma(97;0.0554)			CAGCTGGTACTCGCTCTTGGA	0.667																																																0													13	12	12					17																	76355088		2183	4290	6473	SO:0001583	missense	9021			AB004904	CCDS11756.1	17q25.3	2014-09-17						"Suppressors of cytokine signaling", "SH2 domain containing"	19391	protein-coding gene	gene with protein product		604176				9266833, 9344848	Standard	NM_003955		Approved	SSI-3, CIS3, SOCS-3, Cish3	uc002jvl.2	O14543		ENST00000330871.2:c.89A>G	chr17.hg19:g.76355088T>C	ENSP00000330341:p.Glu30Gly		O14509	Missense_Mutation	SNP	ENST00000330871.2	hg19	CCDS11756.1	.	.	.	.	.	.	.	.	.	.	T	13.69	2.311224	0.40895	.	.	ENSG00000184557	ENST00000330871	T	0.47869	0.83	4.16	4.16	0.48862	SH2 motif (1);	0.123969	0.53938	D	0.000044	T	0.37705	0.1013	L	0.44542	1.39	0.43808	D	0.996369	P	0.48764	0.915	B	0.36922	0.236	T	0.43294	-0.9400	10	0.72032	D	0.01	-18.8506	13.1915	0.59713	0.0:0.0:0.0:1.0	.	30	O14543	SOCS3_HUMAN	G	30	ENSP00000330341:E30G	ENSP00000330341:E30G	E	-	2	0	SOCS3	73866683	1.000000	0.71417	1.000000	0.80357	0.595000	0.36748	5.546000	0.67243	1.514000	0.48869	0.383000	0.25322	GAG		0.667	SOCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437300.1			C	76355088	T	C	76355088	3	2	781	1	0	0	0	0	1	0	0	0	14921	1551	54	3	592	3	SOCS3	17	76355088	Missense_Mutation	SNP	T	TCGA-PJ-A8JU-01A-11D-A35Z-10	14796558	76355088	4840122	82	46240											
FAM38B	63895	hgsc.bcm.edu	37	18	10680336	10680336	+	Silent	SNP	T	T	C			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr18:10680336T>C	ENST00000503781.3	-	48	7472	c.7473A>G	c.(7471-7473)aaA>aaG	p.K2491K	PIEZO2_ENST00000580640.1_Silent_p.K2516K|PIEZO2_ENST00000302079.6_Silent_p.K2428K|PIEZO2_ENST00000581680.1_5'UTR|PIEZO2_ENST00000285141.4_Silent_p.K283K|PIEZO2_ENST00000538948.1_Silent_p.K448K	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2491					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)										TTATGTCTTCTTTTTCATAAT	0.398																																																0													142	138	139					18																	10680336		2203	4300	6503	SO:0001819	synonymous_variant	63895			AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"chromosome 18 open reading frame 30", "chromosome 18 open reading frame 58", "family with sequence similarity 38, member B"	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.7473A>G	chr18.hg19:g.10680336T>C			B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Silent	SNP	ENST00000503781.3	hg19																																																																																					0.398	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442385.4	NM_022068		C	10680336	T	C	10680336	2	2	781	1	0	0	0	0	0	0	0	1	5557	1606	56	3		3	FAM38B	18	10680336	Silent	SNP	T	TCGA-PJ-A8JU-01A-11D-A35Z-10		10680336	67396912	83	46241	497	2									
FAM38B	63895	hgsc.bcm.edu	37	18	10680342	10680342	+	Nonsense_Mutation	SNP	A	A	T			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr18:10680342A>T	ENST00000503781.3	-	48	7466	c.7467T>A	c.(7465-7467)taT>taA	p.Y2489*	PIEZO2_ENST00000580640.1_Nonsense_Mutation_p.Y2514*|PIEZO2_ENST00000302079.6_Nonsense_Mutation_p.Y2426*|PIEZO2_ENST00000581680.1_5'UTR|PIEZO2_ENST00000285141.4_Nonsense_Mutation_p.Y281*|PIEZO2_ENST00000538948.1_Nonsense_Mutation_p.Y446*	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2489					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)										CTTCTTTTTCATAATTTTCCA	0.393																																																0													141	137	138					18																	10680342		2203	4300	6503	SO:0001587	stop_gained	63895			AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"chromosome 18 open reading frame 30", "chromosome 18 open reading frame 58", "family with sequence similarity 38, member B"	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.7467T>A	chr18.hg19:g.10680342A>T	ENSP00000421377:p.Tyr2489*		B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Nonsense_Mutation	SNP	ENST00000503781.3	hg19		.	.	.	.	.	.	.	.	.	.	A	43	10.389114	0.99396	.	.	ENSG00000154864	ENST00000503781;ENST00000302079;ENST00000538948;ENST00000285141	.	.	.	5.92	4.77	0.60923	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.7631	0.51914	0.9317:0.0:0.0683:0.0	.	.	.	.	X	383;2489;446;281	.	ENSP00000285141:Y281X	Y	-	3	2	FAM38B	10670342	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.634000	0.54302	1.075000	0.40932	0.533000	0.62120	TAT		0.393	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442385.4	NM_022068		T	10680342	A	T	10680342	4	4	781	1	0	0	0	0	0	1	0	0	5557	224	8	5	811	5	FAM38B	18	10680342	Nonsense_Mutation	SNP	A	TCGA-PJ-A8JU-01A-11D-A35Z-10	6	10680342	67396906	84	46242	497	2									
FUT5	2527	hgsc.bcm.edu	37	19	5867537	5867537	+	Missense_Mutation	SNP	C	C	T			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr19:5867537C>T	ENST00000588525.1	-	2	287	c.200G>A	c.(199-201)aGc>aAc	p.S67N	FUT5_ENST00000252675.5_Missense_Mutation_p.S67N	NM_002034.2	NP_002025.2	Q11128	FUT5_HUMAN	fucosyltransferase 5 (alpha (1,3) fucosyltransferase)	67					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						GGTCGCCATGCTGTCCTGGCA	0.657																																																0													38	39	38					19																	5867537		2203	4300	6503	SO:0001583	missense	2527				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.200G>A	chr19.hg19:g.5867537C>T	ENSP00000466880:p.Ser67Asn		A8K4X2	Missense_Mutation	SNP	ENST00000588525.1	hg19	CCDS12154.1	.	.	.	.	.	.	.	.	.	.	C	6.711	0.499852	0.12762	.	.	ENSG00000130383	ENST00000252675	T	0.28454	1.61	1.74	-3.05	0.05396	.	.	.	.	.	T	0.17874	0.0429	L	0.36672	1.1	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.28808	-1.0032	9	0.22706	T	0.39	.	4.3455	0.11131	0.1716:0.4677:0.3607:0.0	.	67	Q11128	FUT5_HUMAN	N	67	ENSP00000252675:S67N	ENSP00000252675:S67N	S	-	2	0	FUT5	5818537	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.184000	0.16939	-0.600000	0.05790	-0.693000	0.03709	AGC		0.657	FUT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452213.1	NM_002034		T	5867537	C	T	5867537	3	4	781	1	0	0	0	0	1	0	0	0	6109	797	28	2	928	2	FUT5	19	5867537	Missense_Mutation	SNP	C	TCGA-PJ-A8JU-01A-11D-A35Z-10		5867537	53261446	85	46243											
CRB3	92359	hgsc.bcm.edu	37	19	6466490	6466490	+	Missense_Mutation	SNP	T	T	C			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr19:6466490T>C	ENST00000598494.1	+	4	701	c.170T>C	c.(169-171)aTc>aCc	p.I57T	CRB3_ENST00000356762.3_Missense_Mutation_p.I57T|CRB3_ENST00000308243.7_Missense_Mutation_p.I57T|CRB3_ENST00000600229.1_Missense_Mutation_p.I57T			Q9BUF7	CRUM3_HUMAN	crumbs family member 3	57					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|protein localization to plasma membrane (GO:0072659)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)|SH3 domain binding (GO:0017124)			endometrium(1)|large_intestine(1)|lung(1)	3						CCAGAAGCCATCACTGCTATC	0.612																																																0													190	166	174					19																	6466490		2203	4300	6503	SO:0001583	missense	92359			AF503290	CCDS12166.1, CCDS12167.1	19p13.3	2014-02-06	2014-02-06		ENSG00000130545	ENSG00000130545			20237	protein-coding gene	gene with protein product		609737	"crumbs homolog 3 (Drosophila)"				Standard	XM_005259680		Approved	MGC17303	uc002mez.3	Q9BUF7	OTTHUMG00000181828	ENST00000598494.1:c.170T>C	chr19.hg19:g.6466490T>C	ENSP00000469707:p.Ile57Thr		A8KA91|D6W643|Q8N0V8|Q8WVA0	Missense_Mutation	SNP	ENST00000598494.1	hg19	CCDS12167.1	.	.	.	.	.	.	.	.	.	.	T	9.135	1.012505	0.19277	.	.	ENSG00000130545	ENST00000356762;ENST00000308243	.	.	.	4.72	1.11	0.20524	.	0.394099	0.19507	N	0.112599	T	0.36744	0.0978	L	0.46885	1.475	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.003	T	0.24190	-1.0167	9	0.42905	T	0.14	-6.2219	8.2264	0.31570	0.0:0.3766:0.0:0.6234	.	57;57	Q9BUF7-2;Q9BUF7	.;CRUM3_HUMAN	T	57	.	ENSP00000310123:I57T	I	+	2	0	CRB3	6417490	0.006000	0.16342	0.026000	0.17262	0.892000	0.51952	0.507000	0.22675	-0.059000	0.13154	0.477000	0.44152	ATC		0.612	CRB3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457837.1			C	6466490	T	C	6466490	3	2	781	1	0	0	0	0	1	0	0	0	3852	1435	50	3	180	3	CRB3	19	6466490	Missense_Mutation	SNP	T	TCGA-PJ-A8JU-01A-11D-A35Z-10	598953	6466490	52662493	86	46244											
MUC16	94025	hgsc.bcm.edu	37	19	9074427	9074427	+	Frame_Shift_Del	DEL	A	A	-			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr19:9074427delA	ENST00000397910.4	-	3	13222	c.13019delT	c.(13018-13020)gtcfs	p.V4340fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4342	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						TGTCTTGGTGACATGAGTAGT	0.488																																																0													109	114	112					19																	9074427		2096	4210	6306	SO:0001589	frameshift_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.13019delT	chr19.hg19:g.9074427delA	ENSP00000381008:p.Val4340fs		Q6ZQW5|Q96RK2	Frame_Shift_Del	DEL	ENST00000397910.4	hg19	CCDS54212.1																																																																																				0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		-	9074427	A	-	9074427	7	5	781	1	0	1	0	1	0	0	0	0	9975	275	10	0	30832	0	MUC16	19	9074427	Frame_Shift_Del	DEL	A	TCGA-PJ-A8JU-01A-11D-A35Z-10	2607937	9074427	50054556	87	46245											
ZGLP1	100125288	hgsc.bcm.edu	37	19	10418909	10418909	+	Missense_Mutation	SNP	T	T	A			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr19:10418909T>A	ENST00000403903.3	-	1	1647	c.449A>T	c.(448-450)aAg>aTg	p.K150M	CTD-2369P2.10_ENST00000452032.2_3'UTR|ZGLP1_ENST00000403352.1_Missense_Mutation_p.K66M|FDX1L_ENST00000492239.1_5'Flank|FDX1L_ENST00000541276.1_3'UTR	NM_001103167.1	NP_001096637.1	P0C6A0	ZGLP1_HUMAN	zinc finger, GATA-like protein 1	150					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						TATCTGAAACTTCAGAGTCAC	0.642																																																0													39	43	42					19																	10418909		1930	4133	6063	SO:0001583	missense	100125288			AK096830	CCDS45959.1	19p13.2	2013-01-25			ENSG00000220201	ENSG00000220201		"GATA zinc finger domain containing"	37245	protein-coding gene	gene with protein product	"GATA like protein 1", "GATA zinc finger domain containing 3"	611639				16982049	Standard	NM_001103167		Approved	GLP1, GLP-1, GATAD3	uc002mnw.4	P0C6A0	OTTHUMG00000152114	ENST00000403903.3:c.449A>T	chr19.hg19:g.10418909T>A	ENSP00000384434:p.Lys150Met			Missense_Mutation	SNP	ENST00000403903.3	hg19	CCDS45959.1	.	.	.	.	.	.	.	.	.	.	T	10.64	1.406851	0.25378	.	.	ENSG00000220201	ENST00000403903;ENST00000403352	D;D	0.98296	-4.85;-4.76	4.65	-1.45	0.08828	.	.	.	.	.	D	0.93684	0.7982	N	0.24115	0.695	0.20873	N	0.999839	B	0.32918	0.39	B	0.30179	0.112	D	0.87717	0.2570	9	0.66056	D	0.02	-7.2845	6.175	0.20439	0.0:0.1636:0.3897:0.4467	.	150	P0C6A0	ZGLP1_HUMAN	M	150;66	ENSP00000384434:K150M;ENSP00000385403:K66M	ENSP00000385403:K66M	K	-	2	0	ZGLP1	10279909	0.180000	0.23148	0.439000	0.26833	0.595000	0.36748	-0.563000	0.05943	-0.708000	0.05015	-2.944000	0.00085	AAG		0.642	ZGLP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325278.1	NM_001103167		A	10418909	T	A	10418909	3	1	781	1	0	0	0	0	1	0	0	0	17678	1609	56	5	382	5	ZGLP1	19	10418909	Missense_Mutation	SNP	T	TCGA-PJ-A8JU-01A-11D-A35Z-10	1344482	10418909	48710074	88	46246											
GCDH	2639	hgsc.bcm.edu	37	19	13010540	13010540	+	3'UTR	SNP	A	A	G	rs376334735		TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr19:13010540A>G	ENST00000222214.5	+	0	1713				SYCE2_ENST00000293695.7_Intron|GCDH_ENST00000457854.1_Missense_Mutation_p.R424G|GCDH_ENST00000588242.2_3'UTR|GCDH_ENST00000422947.2_3'UTR|GCDH_ENST00000591470.1_3'UTR			Q92947	GCDH_HUMAN	glutaryl-CoA dehydrogenase						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)	CTTAAAAAGAAGATGGAATTC	0.423																																					GBM(123;875 1636 7726 16444 26754)											0													75	86	82					19																	13010540		2076	4215	6291	SO:0001624	3_prime_UTR_variant	2639			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.*185A>G	chr19.hg19:g.13010540A>G			A8K2Z2|O14719	Missense_Mutation	SNP	ENST00000222214.5	hg19	CCDS12286.1	.	.	.	.	.	.	.	.	.	.	A	16.79	3.220902	0.58560	.	.	ENSG00000105607	ENST00000457854	D	0.97505	-4.41	4.81	0.392	0.16288	.	.	.	.	.	D	0.87799	0.6268	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.78505	-0.2178	8	0.02654	T	1	.	3.8177	0.08822	0.5063:0.1922:0.3015:0.0	.	424	Q92947-2	.	G	424	ENSP00000394872:R424G	ENSP00000394872:R424G	R	+	1	2	GCDH	12871540	0.004000	0.15560	0.000000	0.03702	0.892000	0.51952	-0.302000	0.08221	0.093000	0.17368	0.460000	0.39030	AGA		0.423	GCDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451897.1			G	13010540	A	G	13010540	1	3	781	0	1	0	0	0	0	0	0	0	6289	64	3	3		3	GCDH	19	13010540	3'UTR	SNP	A	TCGA-PJ-A8JU-01A-11D-A35Z-10	2591631	13010540	46118443	89	46247											
GDF15	9518	hgsc.bcm.edu	37	19	18496998	18497015	+	Start_Codon_Del	DEL	AACCTGCACAGCCATGCC	AACCTGCACAGCCATGCC	-	rs201445214|rs373073926|rs573590688		TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	AACCTGCACAGCCATGCC	AACCTGCACAGCCATGCC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr19:18496998_18497015delAACCTGCACAGCCATGCC	ENST00000252809.3	+	0	31_48				MIR3189_ENST00000578735.1_RNA	NM_004864.2	NP_004855.2	Q99988	GDF15_HUMAN	growth differentiation factor 15						cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cytokine activity (GO:0005125)	p.P2H(1)		kidney(2)|large_intestine(1)|liver(1)|lung(5)|prostate(2)|skin(1)	12						ACCTGCACAGCCATGCCCGGGCAAGAACTCAGGACGGT	0.661																																																1	Substitution - Missense(1)	large_intestine(1)																																								SO:0001582	initiator_codon_variant	9518			BC008962	CCDS12376.1	19p13.11	2008-05-14				ENSG00000130513			30142	protein-coding gene	gene with protein product	"prostate differentiation factor"	605312				11895857, 9593718	Standard	NM_004864		Approved	PLAB, MIC-1, PDF, MIC1, NAG-1, PTGFB	uc002niv.2	Q99988			chr19.hg19:g.18496998_18497015delAACCTGCACAGCCATGCC			O14629|P78360|Q9BWA0|Q9NRT0	Frame_Shift_Del	DEL	ENST00000252809.3	hg19	CCDS12376.1																																																																																				0.661	GDF15-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466340.2	NM_004864		-	18497015	AACCTGCACAGCCATGCC	-	18496998	7	5	781	1	0	1	0	1	0	0	0	0	6315	754	26	0	1	0	GDF15	19	18496998	Start_Codon_Del	DEL	AACCTGCACAGCCATGCC	TCGA-PJ-A8JU-01A-11D-A35Z-10	5486458	18496998	40631985	90	46248	498	2									
GDF15	9518	hgsc.bcm.edu	37	19	18497000	18497001	+	Start_Codon_Del	DEL	AT	AT	-			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	AT	AT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr19:18497000_18497001delAT	ENST00000252809.3	+	0	33_34				MIR3189_ENST00000578735.1_RNA	NM_004864.2	NP_004855.2	Q99988	GDF15_HUMAN	growth differentiation factor 15						cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cytokine activity (GO:0005125)			kidney(2)|large_intestine(1)|liver(1)|lung(5)|prostate(2)|skin(1)	12						CTGCACAGCCATGCCCGGGCAA	0.649																																																0																																										SO:0001582	initiator_codon_variant	9518			BC008962	CCDS12376.1	19p13.11	2008-05-14				ENSG00000130513			30142	protein-coding gene	gene with protein product	"prostate differentiation factor"	605312				11895857, 9593718	Standard	NM_004864		Approved	PLAB, MIC-1, PDF, MIC1, NAG-1, PTGFB	uc002niv.2	Q99988			chr19.hg19:g.18497000_18497001delAT			O14629|P78360|Q9BWA0|Q9NRT0	Frame_Shift_Del	DEL	ENST00000252809.3	hg19	CCDS12376.1																																																																																				0.649	GDF15-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466340.2	NM_004864		-	18497001	AT	-	18497000	7	5	781	1	0	1	0	1	0	0	0	0	6315	217	8	0	3	0	GDF15	19	18497000	Start_Codon_Del	DEL	AT	TCGA-PJ-A8JU-01A-11D-A35Z-10	2	18497000	40631983	91	46249	498	2									
CILP2	148113	hgsc.bcm.edu	37	19	19655554	19655554	+	Missense_Mutation	SNP	C	C	T			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr19:19655554C>T	ENST00000291495.5	+	8	2285	c.2200C>T	c.(2200-2202)Cgc>Tgc	p.R734C	CILP2_ENST00000586018.1_Missense_Mutation_p.R740C	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	734						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						CGTGCCTGAGCGCCGCCGCTG	0.697																																																0													14	16	15					19																	19655554		2197	4288	6485	SO:0001583	missense	148113			AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.2200C>T	chr19.hg19:g.19655554C>T	ENSP00000291495:p.Arg734Cys		Q6NV88|Q8N4A6|Q8WV21	Missense_Mutation	SNP	ENST00000291495.5	hg19	CCDS12405.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.305389	0.60305	.	.	ENSG00000160161	ENST00000291495	T	0.51574	0.7	4.89	2.58	0.30949	.	0.477682	0.22795	N	0.055552	T	0.39733	0.1089	L	0.40543	1.245	0.43803	D	0.996357	D;D	0.65815	0.995;0.995	P;P	0.48677	0.586;0.586	T	0.29971	-0.9994	10	0.59425	D	0.04	-23.0496	3.694	0.08357	0.1728:0.568:0.1673:0.0919	.	734;734	B2RAJ0;Q8IUL8	.;CILP2_HUMAN	C	734	ENSP00000291495:R734C	ENSP00000291495:R734C	R	+	1	0	CILP2	19516554	0.991000	0.36638	1.000000	0.80357	0.997000	0.91878	1.880000	0.39628	1.016000	0.39470	0.555000	0.69702	CGC		0.697	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	NM_153221		T	19655554	C	T	19655554	3	4	781	1	0	0	0	0	1	0	0	0	3432	768	27	1	2230	1	CILP2	19	19655554	Missense_Mutation	SNP	C	TCGA-PJ-A8JU-01A-11D-A35Z-10	1158554	19655554	39473429	92	46250											
ZNF527	84503	hgsc.bcm.edu	37	19	37879856	37879856	+	Missense_Mutation	SNP	A	A	G			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr19:37879856A>G	ENST00000436120.2	+	5	1012	c.905A>G	c.(904-906)tAt>tGt	p.Y302C	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	302					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.Y302>?(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAAAAACCATATGCATGCAAT	0.393																																																1	Complex(1)	lung(1)											105	96	99					19																	37879856		2093	4241	6334	SO:0001583	missense	84503			AB058732, AK091585	CCDS42559.1	19q13.1	2013-01-08			ENSG00000189164	ENSG00000189164		"Zinc fingers, C2H2-type", "-"	29385	protein-coding gene	gene with protein product						11347906	Standard	NM_032453		Approved	KIAA1829	uc010efk.1	Q8NB42	OTTHUMG00000048173	ENST00000436120.2:c.905A>G	chr19.hg19:g.37879856A>G	ENSP00000390179:p.Tyr302Cys		B4DVL5	Missense_Mutation	SNP	ENST00000436120.2	hg19	CCDS42559.1	.	.	.	.	.	.	.	.	.	.	A	2.120	-0.401673	0.04865	.	.	ENSG00000189164	ENST00000356178;ENST00000317566;ENST00000436120	.	.	.	4.19	2.11	0.27256	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.557068	0.13635	N	0.373399	T	0.49983	0.1589	M	0.88704	2.975	0.09310	N	0.999999	B;B	0.17038	0.02;0.016	B;B	0.16722	0.016;0.009	T	0.53704	-0.8401	9	0.72032	D	0.01	.	3.9384	0.09316	0.6603:0.0:0.1838:0.1559	.	302;270	Q8NB42;Q8NB42-2	ZN527_HUMAN;.	C	302;270;250	.	ENSP00000325231:Y270C	Y	+	2	0	ZNF527	42571696	0.000000	0.05858	0.042000	0.18584	0.284000	0.27059	-0.422000	0.07043	0.193000	0.20303	-0.274000	0.10170	TAT		0.393	ZNF527-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458434.1	NM_032453		G	37879856	A	G	37879856	3	3	781	1	0	0	0	0	1	0	0	0	17973	449	16	3	919	3	ZNF527	19	37879856	Missense_Mutation	SNP	A	TCGA-PJ-A8JU-01A-11D-A35Z-10	18224302	37879856	21249127	93	46251											
PRKD2	25865	hgsc.bcm.edu	37	19	47181737	47181737	+	Missense_Mutation	SNP	T	T	G			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr19:47181737T>G	ENST00000291281.4	-	16	2479	c.2254A>C	c.(2254-2256)Aac>Cac	p.N752H	PRKD2_ENST00000433867.1_Missense_Mutation_p.N752H|PRKD2_ENST00000600194.1_Missense_Mutation_p.N595H|PRKD2_ENST00000593492.1_5'Flank|PRKD2_ENST00000595515.1_Missense_Mutation_p.N752H|PRKD2_ENST00000601806.1_Missense_Mutation_p.N595H|DACT3-AS1_ENST00000525008.1_RNA			Q9BZL6	KPCD2_HUMAN	protein kinase D2	752	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)		TCATCCTCGTTGAAAGGGAAG	0.627																																																0													163	123	136					19																	47181737		2203	4300	6503	SO:0001583	missense	25865			AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"Pleckstrin homology (PH) domain containing"	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.2254A>C	chr19.hg19:g.47181737T>G	ENSP00000291281:p.Asn752His		Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000291281.4	hg19	CCDS12689.1	.	.	.	.	.	.	.	.	.	.	T	28.8	4.949602	0.92660	.	.	ENSG00000105287	ENST00000291281;ENST00000433867	T;T	0.65732	-0.17;-0.17	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	0.000002	T	0.67748	0.2926	N	0.26092	0.79	0.58432	D	0.999999	P;D;D	0.89917	0.87;1.0;1.0	P;D;D	0.97110	0.867;0.999;1.0	T	0.71626	-0.4536	10	0.66056	D	0.02	-41.8641	13.3949	0.60846	0.0:0.0:0.0:1.0	.	752;237;752	E7ER94;A0JLT6;Q9BZL6	.;.;KPCD2_HUMAN	H	752	ENSP00000291281:N752H;ENSP00000393978:N752H	ENSP00000291281:N752H	N	-	1	0	PRKD2	51873577	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.956000	0.87863	1.872000	0.54250	0.460000	0.39030	AAC		0.627	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1	NM_016457		G	47181737	T	G	47181737	3	3	781	1	0	0	0	0	1	0	0	0	12524	1812	63	5	394	5	PRKD2	19	47181737	Missense_Mutation	SNP	T	TCGA-PJ-A8JU-01A-11D-A35Z-10	9301881	47181737	11947246	94	46252											
CRX	1406	hgsc.bcm.edu	37	19	48342911	48342911	+	Missense_Mutation	SNP	C	C	T	rs61748454		TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr19:48342911C>T	ENST00000221996.7	+	4	793	c.587C>T	c.(586-588)gCc>gTc	p.A196V	TPRX2P_ENST00000535362.1_Intron|CRX_ENST00000539067.1_Missense_Mutation_p.A196V	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	196					circadian rhythm (GO:0007623)|organ morphogenesis (GO:0009887)|positive regulation of photoreceptor cell differentiation (GO:0046534)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|leucine zipper domain binding (GO:0043522)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		ATGACCTACGCCCCGGCCTCC	0.662																																					Pancreas(57;461 1196 22201 40716 47188)											0			GRCh37	CD972156	CRX	D	rs61748454						58	60	60					19																	48342911		2203	4300	6503	SO:0001583	missense	1406			AF024711	CCDS12706.1	19q13.3	2013-01-08				ENSG00000105392		"Homeoboxes / PRD class"	2383	protein-coding gene	gene with protein product	"orthodenticle homeobox 3"	602225		CORD2		9390563, 9537410	Standard	NM_000554		Approved	CRD, LCA7, OTX3	uc002phq.4	O43186		ENST00000221996.7:c.587C>T	chr19.hg19:g.48342911C>T	ENSP00000221996:p.Ala196Val		Q0QD45	Missense_Mutation	SNP	ENST00000221996.7	hg19	CCDS12706.1	.	.	.	.	.	.	.	.	.	.	C	12.74	2.029682	0.35797	.	.	ENSG00000105392	ENST00000221996;ENST00000539067	D;D	0.86366	-2.11;-2.11	4.36	3.24	0.37175	Transcription factor Otx, C-terminal (1);	0.215353	0.37669	N	0.001989	T	0.80204	0.4580	L	0.46157	1.445	0.25471	N	0.987827	P	0.43826	0.818	B	0.39562	0.303	T	0.70267	-0.4919	10	0.21540	T	0.41	-11.5606	10.1228	0.42632	0.0:0.6446:0.3554:0.0	.	196	O43186	CRX_HUMAN	V	196	ENSP00000221996:A196V;ENSP00000445565:A196V	ENSP00000221996:A196V	A	+	2	0	CRX	53034723	0.958000	0.32768	0.986000	0.45419	0.310000	0.27922	0.591000	0.23969	1.975000	0.57531	0.467000	0.42956	GCC		0.662	CRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409812.4	NM_000554		T	48342911	C	T	48342911	3	4	781	1	0	0	0	0	1	0	0	0	3904	739	26	2	597	2	CRX	19	48342911	Missense_Mutation	SNP	C	TCGA-PJ-A8JU-01A-11D-A35Z-10	1161174	48342911	10786072	95	46253											
HRC	3270	hgsc.bcm.edu	37	19	49656860	49656860	+	Silent	SNP	C	C	T			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr19:49656860C>T	ENST00000252825.4	-	1	1821	c.1635G>A	c.(1633-1635)gaG>gaA	p.E545E	HRC_ENST00000595625.1_Silent_p.E545E	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	545					cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		cgtcttcttcctcctcctcct	0.622																																					Melanoma(37;75 1097 24567 25669 30645)											0													58	29	39					19																	49656860		2202	4300	6502	SO:0001819	synonymous_variant	3270				CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"histidine-rich calcium-binding protein"			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.1635G>A	chr19.hg19:g.49656860C>T			Q504Y6	Silent	SNP	ENST00000252825.4	hg19	CCDS12759.1																																																																																				0.622	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152		T	49656860	C	T	49656860	2	4	781	1	0	0	0	0	0	0	0	1	7354	680	24	2		2	HRC	19	49656860	Silent	SNP	C	TCGA-PJ-A8JU-01A-11D-A35Z-10	1313949	49656860	9472123	96	46254											
KLK3	354	hgsc.bcm.edu	37	19	51361852	51361853	+	Splice_Site	INS	-	-	TTT			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr19:51361852_51361853insTTT	ENST00000326003.2	+	4	671		c.e4+1		KLK3_ENST00000595952.1_Splice_Site|KLK3_ENST00000593997.1_In_Frame_Ins_p.211_212insL|KLK3_ENST00000360617.3_Splice_Site|KLK3_ENST00000597483.1_Splice_Site	NM_001030047.1|NM_001030048.1|NM_001648.2	NP_001025218.1|NP_001025219.1|NP_001639.1	P07288	KLK3_HUMAN	kallikrein-related peptidase 3						cellular protein metabolic process (GO:0044267)|negative regulation of angiogenesis (GO:0016525)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		CACCTGCTCGGTGAGTCATCCC	0.554																																					Colon(185;1767 2023 13025 30120 37630)											0																																										SO:0001630	splice_region_variant	354			X14810	CCDS12807.1, CCDS33083.1, CCDS46155.1	19q13.41	2012-10-02	2006-10-27			ENSG00000142515		"Kallikreins"	6364	protein-coding gene	gene with protein product		176820	"kallikrein 3, (prostate specific antigen)"	APS		2456523, 2436946, 16800724, 16800723	Standard	NM_001648		Approved	PSA	uc021uyi.1	P07288		ENST00000326003.2:c.630+1->TTT	chr19.hg19:g.51361852_51361853insTTT			C9JXH3|G3V0H4|G3XAE3|Q15096|Q16272|Q86TG8|Q8IXI4	Splice_Site	INS	ENST00000326003.2	hg19	CCDS12807.1																																																																																				0.554	KLK3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464067.1	NM_145864	Intron	TTT	51361853	-	TTT	51361852	8	5	781	1	0	1	1	0	0	0	1	0	8407	1275	44	0	649	0	KLK3	19	51361852	Splice_Site	INS	-	TCGA-PJ-A8JU-01A-11D-A35Z-10	1704992	51361852	7767131	97	46255											
ZNF71	58491	hgsc.bcm.edu	37	19	57133451	57133451	+	Missense_Mutation	SNP	G	G	A			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr19:57133451G>A	ENST00000328070.6	+	3	1030	c.796G>A	c.(796-798)Ggg>Agg	p.G266R		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	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)|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)		CACGCACACCGGGGAGAAGCC	0.677																																																0													50	53	52					19																	57133451		2203	4300	6503	SO:0001583	missense	58491			X60074	CCDS12947.1	19q13.4	2013-01-08	2006-05-12			ENSG00000197951		"Zinc fingers, C2H2-type"	13141	protein-coding gene	gene with protein product		194545	"zinc finger protein 71 (Cos26)"			1639391	Standard	NM_021216		Approved	Cos26, EZFIT	uc002qnm.4	Q9NQZ8		ENST00000328070.6:c.796G>A	chr19.hg19:g.57133451G>A	ENSP00000328245:p.Gly266Arg		Q15919|Q9UC09|Q9UQD3	Missense_Mutation	SNP	ENST00000328070.6	hg19	CCDS12947.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.049854	0.75846	.	.	ENSG00000197951	ENST00000328070	T	0.26223	1.75	3.82	3.82	0.43975	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46425	0.1392	M	0.64997	1.995	0.37570	D	0.919396	D	0.89917	1.0	D	0.68765	0.96	T	0.56335	-0.7996	9	0.62326	D	0.03	.	14.6514	0.68800	0.0:0.0:1.0:0.0	.	266	Q9NQZ8	ZNF71_HUMAN	R	266	ENSP00000328245:G266R	ENSP00000328245:G266R	G	+	1	0	ZNF71	61825263	0.999000	0.42202	0.614000	0.29051	0.963000	0.63663	4.418000	0.59828	1.958000	0.56883	0.561000	0.74099	GGG		0.677	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459798.2	NM_021216		A	57133451	G	A	57133451	3	1	781	1	0	0	0	0	1	0	0	0	18119	1116	39	1	798	1	ZNF71	19	57133451	Missense_Mutation	SNP	G	TCGA-PJ-A8JU-01A-11D-A35Z-10	5771599	57133451	1995532	98	46256											
ZNF419	79744	hgsc.bcm.edu	37	19	58004676	58004676	+	Missense_Mutation	SNP	A	A	G			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr19:58004676A>G	ENST00000221735.7	+	5	937	c.751A>G	c.(751-753)Ata>Gta	p.I251V	ZNF419_ENST00000426954.2_Missense_Mutation_p.I239V|ZNF419_ENST00000347466.6_Missense_Mutation_p.I219V|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000415379.2_Missense_Mutation_p.I205V|ZNF419_ENST00000442920.2_Missense_Mutation_p.I238V|ZNF419_ENST00000424930.2_Missense_Mutation_p.I252V|ZNF419_ENST00000354197.4_Missense_Mutation_p.I239V			Q96HQ0	ZN419_HUMAN	zinc finger protein 419	251					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		TATACACCAAATAGTTCACAC	0.423																																																0													71	73	72					19																	58004676		2203	4300	6503	SO:0001583	missense	79744			AK026886	CCDS42637.1, CCDS46211.1, CCDS54325.1, CCDS54326.1, CCDS54327.1, CCDS54328.1	19q13.43	2013-01-08	2006-12-15	2006-12-15	ENSG00000105136	ENSG00000105136		"Zinc fingers, C2H2-type", "-"	20648	protein-coding gene	gene with protein product			"zinc finger protein 419A"	ZNF419A			Standard	NM_001098492		Approved		uc010ety.1	Q96HQ0	OTTHUMG00000037073	ENST00000221735.7:c.751A>G	chr19.hg19:g.58004676A>G	ENSP00000221735:p.Ile251Val		B4DXU7|B4E348|B7ZA41|E9PCP4|E9PED0|E9PET3|E9PFX9|Q9H5P0	Missense_Mutation	SNP	ENST00000221735.7	hg19	CCDS54326.1	.	.	.	.	.	.	.	.	.	.	A	16.17	3.046280	0.55110	.	.	ENSG00000105136	ENST00000424930;ENST00000426954;ENST00000354197;ENST00000427558;ENST00000442920;ENST00000517598;ENST00000347466;ENST00000415379;ENST00000221735	T;T;T;T;T;T;T	0.18338	2.22;2.22;2.22;2.22;2.22;2.22;2.22	1.69	0.633	0.17712	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24509	0.0594	L	0.31845	0.965	0.09310	N	0.999999	P;P;D;P;P;D;P	0.56968	0.699;0.898;0.958;0.898;0.771;0.978;0.771	P;D;D;D;B;P;B	0.70716	0.768;0.956;0.97;0.956;0.276;0.608;0.276	T	0.10776	-1.0615	9	0.72032	D	0.01	.	5.1817	0.15163	0.6777:0.0:0.3223:0.0	.	205;205;238;239;252;219;251	E9PFX9;B4DXU7;E9PCP4;E9PET3;E9PED0;Q96HQ0-2;Q96HQ0	.;.;.;.;.;.;ZN419_HUMAN	V	252;239;239;122;238;252;219;205;251	ENSP00000388864:I252V;ENSP00000390916:I239V;ENSP00000346136:I239V;ENSP00000414709:I238V;ENSP00000299860:I219V;ENSP00000392129:I205V;ENSP00000221735:I251V	ENSP00000221735:I251V	I	+	1	0	ZNF419	62696488	0.000000	0.05858	0.008000	0.14137	0.589000	0.36550	-0.691000	0.05133	0.119000	0.18210	0.172000	0.16884	ATA		0.423	ZNF419-006	KNOWN	NAGNAG_splice_site|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378506.1	NM_024691		G	58004676	A	G	58004676	3	3	781	1	0	0	0	0	1	0	0	0	17901	101	4	3	772	3	ZNF419	19	58004676	Missense_Mutation	SNP	A	TCGA-PJ-A8JU-01A-11D-A35Z-10	871225	58004676	1124307	99	46257											
SOX12	6666	hgsc.bcm.edu	37	20	306671	306679	+	In_Frame_Del	DEL	ACCCCGAGC	ACCCCGAGC	-	rs375905724|rs369922526		TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	ACCCCGAGC	ACCCCGAGC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr20:306671_306679delACCCCGAGC	ENST00000342665.2	+	1	433_441	c.103_111delACCCCGAGC	c.(103-111)accccgagcdel	p.TPS35del	RP5-1103G7.4_ENST00000414676.1_RNA|SOX12_ENST00000544632.1_In_Frame_Del_p.TPS35del|RP5-1103G7.4_ENST00000442637.1_RNA	NM_006943.2	NP_008874.2	O15370	SOX12_HUMAN	SRY (sex determining region Y)-box 12	35					cell fate commitment (GO:0045165)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein-DNA complex assembly (GO:0065004)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord development (GO:0021510)	nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	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)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		all_cancers(10;0.000331)|Lung NSC(37;0.0496)|all_lung(30;0.0831)|all_epithelial(17;0.0868)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			cTGGTGCAAGACCCCGAGCGGCCACATCA	0.722																																																0																																										SO:0001651	inframe_deletion	6666			U35612	CCDS12995.1	20p13	2008-07-28	2002-07-22	2002-07-26	ENSG00000177732	ENSG00000177732		"SRY (sex determining region Y)-boxes"	11198	protein-coding gene	gene with protein product		601947	"SRY (sex determining region Y)-box 22"	SOX22		9215677	Standard	NM_006943		Approved		uc002wdh.4	O15370	OTTHUMG00000031623	ENST00000342665.2:c.103_111delACCCCGAGC	chr20.hg19:g.306671_306679delACCCCGAGC	ENSP00000347646:p.Thr35_Ser37del		Q5D038|Q9NUD4	In_Frame_Del	DEL	ENST00000342665.2	hg19	CCDS12995.1																																																																																				0.722	SOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077435.2	NM_006943		-	306679	ACCCCGAGC	-	306671	7	5	781	1	0	1	0	1	0	0	0	0	14949	275	10	0	105	0	SOX12	20	306671	In_Frame_Del	DEL	ACCCCGAGC	TCGA-PJ-A8JU-01A-11D-A35Z-10		306671	62718849	100	46258											
STAU1	6780	hgsc.bcm.edu	37	20	47732330	47732330	+	Silent	SNP	T	T	C			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr20:47732330T>C	ENST00000371856.2	-	13	2117	c.1707A>G	c.(1705-1707)ggA>ggG	p.G569G	STAU1_ENST00000347458.5_Silent_p.G488G|STAU1_ENST00000371792.1_Silent_p.G486G|STAU1_ENST00000371802.1_Silent_p.G494G|STAU1_ENST00000340954.7_Silent_p.G488G|STAU1_ENST00000371828.3_Silent_p.G494G|STAU1_ENST00000360426.4_Silent_p.G488G	NM_017453.2	NP_059347.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	569					intracellular mRNA localization (GO:0008298)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|rough endoplasmic reticulum (GO:0005791)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			CAGACATTGGTCCGTTTCCTG	0.507																																																0													263	209	227					20																	47732330		2203	4300	6503	SO:0001819	synonymous_variant	6780				CCDS13414.1, CCDS13415.1, CCDS33481.1	20q13.1	2014-06-13	2013-06-05	2005-11-04	ENSG00000124214	ENSG00000124214			11370	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 150"	601716	"staufen (Drosophila, RNA-binding protein)", "staufen, RNA binding protein (Drosophila)", "staufen, RNA binding protein, homolog 1 (Drosophila)"	STAU		8884277, 15680326	Standard	XM_005260524		Approved	PPP1R150	uc002xud.3	O95793	OTTHUMG00000032691	ENST00000371856.2:c.1707A>G	chr20.hg19:g.47732330T>C			A8K9Z4|E1P5Y1|E1P608|Q5JW29|Q6GTM4|Q9H5B4|Q9H5B5|Q9Y3Q2	Silent	SNP	ENST00000371856.2	hg19	CCDS13414.1																																																																																				0.507	STAU1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079633.1	NM_017453		C	47732330	T	C	47732330	2	2	781	1	0	0	0	0	0	0	0	1	15277	1654	58	3		3	STAU1	20	47732330	Silent	SNP	T	TCGA-PJ-A8JU-01A-11D-A35Z-10	47425659	47732330	15293190	101	46259											
BRWD1	54014	hgsc.bcm.edu	37	21	40670471	40670471	+	Missense_Mutation	SNP	A	A	C			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr21:40670471A>C	ENST00000333229.2	-	5	563	c.236T>G	c.(235-237)tTg>tGg	p.L79W	BRWD1_ENST00000380800.3_Missense_Mutation_p.L79W|BRWD1_ENST00000342449.3_Missense_Mutation_p.L79W|BRWD1_ENST00000470108.1_5'UTR|BRWD1_ENST00000341322.4_Missense_Mutation_p.L79W	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	79					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)				GCAGATTTGCAAAAGATGATC	0.388																																					Melanoma(170;988 1986 4794 16843 39731)											0													115	120	118					21																	40670471		2203	4300	6503	SO:0001583	missense	54014			AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"WD repeat domain containing"	12760	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 107", "WD repeat domain 9"	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.236T>G	chr21.hg19:g.40670471A>C	ENSP00000330753:p.Leu79Trp		C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	hg19	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.796583	0.90453	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800;ENST00000341322	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.55	5.55	0.83447	.	0.000000	0.50627	D	0.000103	T	0.69611	0.3130	M	0.87682	2.9	0.50313	D	0.999863	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.76091	-0.3086	10	0.87932	D	0	-4.6002	15.6873	0.77421	1.0:0.0:0.0:0.0	.	79;79;79	Q6P2D1;Q9NSI6-2;Q9NSI6	.;.;BRWD1_HUMAN	W	79	ENSP00000330753:L79W;ENSP00000344333:L79W;ENSP00000370178:L79W;ENSP00000342106:L79W	ENSP00000330753:L79W	L	-	2	0	BRWD1	39592341	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.850000	0.92190	2.119000	0.64992	0.383000	0.25322	TTG		0.388	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		C	40670471	A	C	40670471	3	2	781	1	0	0	0	0	1	0	0	0	1527	131	5	5	7131	5	BRWD1	21	40670471	Missense_Mutation	SNP	A	TCGA-PJ-A8JU-01A-11D-A35Z-10		40670471	7459424	102	46260											
MN1	4330	hgsc.bcm.edu	37	22	28193970	28193970	+	Silent	SNP	T	T	C			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr22:28193970T>C	ENST00000302326.4	-	1	3516	c.2562A>G	c.(2560-2562)ccA>ccG	p.P854P		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	854					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						TCTTGCCCTCTGGCGGGTTCT	0.657			T	ETV6	"AML, meningioma"																																		Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"L, O"	0													71	78	76					22																	28193970		1886	4093	5979	SO:0001819	synonymous_variant	4330			X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"probable tumor suppressor protein MN1"	156100	"meningioma chromosome region"	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.2562A>G	chr22.hg19:g.28193970T>C			A9Z1V9	Silent	SNP	ENST00000302326.4	hg19	CCDS42998.1																																																																																				0.657	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		C	28193970	T	C	28193970	2	2	781	1	0	0	0	0	0	0	0	1	9675	1567	55	3		3	MN1	22	28193970	Silent	SNP	T	TCGA-PJ-A8JU-01A-11D-A35Z-10		28193970	23110596	103	46261											
RNF185	91445	hgsc.bcm.edu	37	22	31583132	31583132	+	Frame_Shift_Del	DEL	G	G	-			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr22:31583132delG	ENST00000326132.6	+	2	211	c.52delG	c.(52-54)gggfs	p.G19fs	RNF185_ENST00000266252.7_Frame_Shift_Del_p.G19fs|RNF185_ENST00000426256.2_5'UTR	NM_152267.3	NP_689480.2	Q96GF1	RN185_HUMAN	ring finger protein 185	19					autophagy (GO:0006914)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(3)|skin(1)	6						CTCCAGTGCAGGGGGGCCCAG	0.607																																																0													71	73	72					22																	31583132		2203	4300	6503	SO:0001589	frameshift_variant	91445				CCDS13890.1, CCDS46689.1	22q12.2	2013-01-09			ENSG00000138942	ENSG00000138942		"RING-type (C3HC4) zinc fingers"	26783	protein-coding gene	gene with protein product	"hypothetical protein FLJ38628"					12477932	Standard	NM_152267		Approved	FLJ38628	uc003akb.3	Q96GF1	OTTHUMG00000151253	ENST00000326132.6:c.52delG	chr22.hg19:g.31583132delG	ENSP00000320508:p.Gly19fs		A8K5C1|A9X3T8|Q8N900	Frame_Shift_Del	DEL	ENST00000326132.6	hg19	CCDS13890.1																																																																																				0.607	RNF185-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321927.2	NM_152267		-	31583132	G	-	31583132	7	5	781	1	0	1	0	1	0	0	0	0	13474	1000	35	0	54	0	RNF185	22	31583132	Frame_Shift_Del	DEL	G	TCGA-PJ-A8JU-01A-11D-A35Z-10	3389162	31583132	19721434	104	46262											
ATF4	468	hgsc.bcm.edu	37	22	39918544	39918544	+	Silent	SNP	C	C	A	rs189922789		TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chr22:39918544C>A	ENST00000337304.2	+	2	1875	c.993C>A	c.(991-993)atC>atA	p.I331I	ATF4_ENST00000396680.1_Silent_p.I331I|ATF4_ENST00000404241.2_Silent_p.I331I	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	331	Interaction with GABBR1. {ECO:0000250}.|Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.			KEI -> REK (in Ref. 5; no nucleotide entry). {ECO:0000305}.	activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular amino acid metabolic process (GO:0006520)|cellular protein metabolic process (GO:0044267)|circadian regulation of gene expression (GO:0032922)|endoplasmic reticulum unfolded protein response (GO:0030968)|gamma-aminobutyric acid signaling pathway (GO:0007214)|gluconeogenesis (GO:0006094)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress (GO:1990440)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to endoplasmic reticulum stress (GO:0034976)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|Lewy body core (GO:1990037)|neuron projection (GO:0043005)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)				Pseudoephedrine(DB00852)	CCAAGGAGATCCAGTACCTGA	0.512																																																0													19	22	21					22																	39918544		2195	4289	6484	SO:0001819	synonymous_variant	468			D90209	CCDS13996.1	22q13.1	2013-05-23	2013-05-23		ENSG00000128272	ENSG00000128272		"basic leucine zipper proteins"	786	protein-coding gene	gene with protein product	"tax-responsive enhancer element B67"	604064	"activating transcription factor 4 (tax-responsive enhancer element B67)"	TXREB		1847461, 1534408	Standard	NM_182810		Approved	TAXREB67, CREB-2	uc003axz.3	P18848	OTTHUMG00000151099	ENST00000337304.2:c.993C>A	chr22.hg19:g.39918544C>A			Q9UH31	Silent	SNP	ENST00000337304.2	hg19	CCDS13996.1																																																																																				0.512	ATF4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321305.1	NM_001675		A	39918544	C	A	39918544	2	1	781	1	0	0	0	0	0	0	0	1	1082	845	30	4		4	ATF4	22	39918544	Silent	SNP	C	TCGA-PJ-A8JU-01A-11D-A35Z-10	8335412	39918544	11386022	105	46263											
RGAG1	57529	hgsc.bcm.edu	37	X	109694814	109694814	+	Silent	SNP	G	G	A			TCGA-PJ-A8JU-01A-11D-A35Z-10	TCGA-PJ-A8JU-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13034367-8ee9-4a37-b910-2798632c44fe	d0b1cf4a-51b3-49a9-9a97-c719fa400826	g.chrX:109694814G>A	ENST00000465301.2	+	3	1215	c.969G>A	c.(967-969)ccG>ccA	p.P323P	RGAG1_ENST00000540313.1_Silent_p.P323P	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	323										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						TGTCCACACCGCTACTGTCAG	0.502													G|||	1	0.000264901	0.0	0.0	3775	,	,		16677	0.001		0.0	False		,,,				2504	0.0															0													257	235	242					X																	109694814		2203	4300	6503	SO:0001819	synonymous_variant	57529			AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.969G>A	chrX.hg19:g.109694814G>A			Q9P2M8	Silent	SNP	ENST00000465301.2	hg19	CCDS14552.1																																																																																				0.502	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		A	109694814	G	A	109694814	2	1	781	1	0	0	0	0	0	0	0	1	13280	1074	38	1		1	RGAG1	23	109694814	Silent	SNP	G	TCGA-PJ-A8JU-01A-11D-A35Z-10		109694814	45575746	106	46264											
RERE	473	hgsc.bcm.edu	37	1	8419867	8419868	+	Missense_Mutation	DNP	CG	CG	TT	rs538667090|rs147985313|rs557606465	byFrequency	TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	C|G	C|G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr1:8419867_8419868CG>TT	ENST00000337907.3	-	20	4208_4209	c.3574_3575CG>AA	c.(3574-3576)CGg>AAg	p.R1192K	RERE_ENST00000377464.1_Missense_Mutation_p.R924K|RERE_ENST00000400907.2_Intron|RERE_ENST00000476556.1_Missense_Mutation_p.R638K|RERE_ENST00000400908.2_Missense_Mutation_p.R1192K	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1192	Arg/Glu-rich (mixed charge).				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)	p.E1191_R1192insKE(1)		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)		ctcccgctcccgctccttctcc	0.683																																																1	Insertion - In frame(1)	ovary(1)																																								SO:0001583	missense	473			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.3574_3575delinsTT	chr1.hg19:g.8419867_8419868delinsTT	ENSP00000338629:p.Arg1192Lys		O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation|Silent	SNP	ENST00000337907.3	hg19	CCDS95.1																																																																																				0.683	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			TT	8419868	CG	TT	8419867	3	4	782	1	0	0	0	0	1	0	0	0	13237	652	23	1	1145	1	RERE	1	8419867	Missense_Mutation	DNP	CG	TCGA-Q2-A5QZ-01A-11D-A28G-10		8419867	240830754	1	46265											
NSUN4	387338	hgsc.bcm.edu	37	1	46818626	46818626	+	Missense_Mutation	SNP	G	G	T			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr1:46818626G>T	ENST00000474844.1	+	4	1329	c.679G>T	c.(679-681)Gat>Tat	p.D227Y	NSUN4_ENST00000498008.1_3'UTR|NSUN4_ENST00000537428.1_Missense_Mutation_p.D178Y|NSUN4_ENST00000536062.1_Missense_Mutation_p.D178Y	NM_199044.3	NP_950245.2	Q96CB9	NSUN4_HUMAN	NOP2/Sun domain family, member 4	227					rRNA methylation (GO:0031167)	mitochondrial large ribosomal subunit (GO:0005762)	methyltransferase activity (GO:0008168)|rRNA binding (GO:0019843)			endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	Acute lymphoblastic leukemia(166;0.155)					AGAGATCAGGGATGGAAATCA	0.488																																																0													146	132	137					1																	46818626		2203	4300	6503	SO:0001583	missense	387338			AK021577	CCDS534.1, CCDS57996.1	1p34	2012-02-24	2009-11-23		ENSG00000117481	ENSG00000117481		"NOP2/Sun domain containing"	31802	protein-coding gene	gene with protein product	"sperm head and tail associated protein"	615394	"NOL1/NOP2/Sun domain family 4", "NOL1/NOP2/Sun domain family, member 4"				Standard	NM_199044		Approved	MGC22960, SHTAP	uc001cpr.2	Q96CB9	OTTHUMG00000007808	ENST00000474844.1:c.679G>T	chr1.hg19:g.46818626G>T	ENSP00000419740:p.Asp227Tyr		A8K6S6|B3KQ50|B4DHA4|Q5TDF7|Q96AN8|Q9HAJ8	Missense_Mutation	SNP	ENST00000474844.1	hg19	CCDS534.1	.	.	.	.	.	.	.	.	.	.	G	18.78	3.696993	0.68386	.	.	ENSG00000117481	ENST00000474844;ENST00000536062;ENST00000537428	T;T;T	0.22336	1.96;1.96;1.96	5.33	3.36	0.38483	Bacterial Fmu (Sun)/eukaryotic nucleolar NOL1/Nop2p (1);	0.525534	0.23606	N	0.046396	T	0.21674	0.0522	L	0.40543	1.245	0.35335	D	0.785985	P;B	0.49253	0.921;0.355	P;B	0.48368	0.575;0.393	T	0.25467	-1.0131	10	0.72032	D	0.01	-3.2295	7.9929	0.30250	0.1399:0.0:0.7295:0.1306	.	94;227	B3KUM0;Q96CB9	.;NSUN4_HUMAN	Y	227;178;178	ENSP00000419740:D227Y;ENSP00000438912:D178Y;ENSP00000437758:D178Y	ENSP00000419740:D227Y	D	+	1	0	NSUN4	46591213	0.997000	0.39634	0.990000	0.47175	0.980000	0.70556	1.385000	0.34408	1.458000	0.47871	0.591000	0.81541	GAT		0.488	NSUN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021427.1	NM_199044		T	46818626	G	T	46818626	3	4	782	1	0	0	0	0	1	0	0	0	10682	1174	41	4	693	4	NSUN4	1	46818626	Missense_Mutation	SNP	G	TCGA-Q2-A5QZ-01A-11D-A28G-10	38398759	46818626	202431995	2	46266											
CLCA1	1179	hgsc.bcm.edu	37	1	86934706	86934706	+	Missense_Mutation	SNP	G	G	A	rs377703691		TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr1:86934706G>A	ENST00000234701.3	+	2	403	c.52G>A	c.(52-54)Ggg>Agg	p.G18R	CLCA1_ENST00000394711.1_Missense_Mutation_p.G18R			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	18					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)		CCTTCTAGAAGGGGCCCTGAG	0.443																																																0								G	ARG/GLY	0,4406		0,0,2203	139	134	136		52	6	0.8	1		136	1,8599	1.2+/-3.3	0,1,4299	no	missense	CLCA1	NM_001285.3	125	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	18/915	86934706	1,13005	2203	4300	6503	SO:0001583	missense	1179				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.52G>A	chr1.hg19:g.86934706G>A	ENSP00000234701:p.Gly18Arg		B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	Missense_Mutation	SNP	ENST00000234701.3	hg19	CCDS709.1	.	.	.	.	.	.	.	.	.	.	G	18.23	3.577478	0.65878	0.0	1.16E-4	ENSG00000016490	ENST00000234701;ENST00000394711	T;T	0.11821	2.74;2.74	5.96	5.96	0.96718	Chloride channel calcium-activated (1);	0.298342	0.31415	N	0.007685	T	0.28995	0.0720	M	0.77486	2.375	0.36444	D	0.865661	D	0.89917	1.0	D	0.81914	0.995	T	0.02307	-1.1179	10	0.25106	T	0.35	-15.6633	17.336	0.87281	0.0:0.0:1.0:0.0	.	18	A8K7I4	CLCA1_HUMAN	R	18	ENSP00000234701:G18R;ENSP00000378200:G18R	ENSP00000234701:G18R	G	+	1	0	CLCA1	86707294	0.978000	0.34361	0.836000	0.33094	0.545000	0.35147	2.435000	0.44811	2.831000	0.97527	0.650000	0.86243	GGG		0.443	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028277.1	NM_001285		A	86934706	G	A	86934706	3	1	782	1	0	0	0	0	1	0	0	0	3459	1000	35	2	54	2	CLCA1	1	86934706	Missense_Mutation	SNP	G	TCGA-Q2-A5QZ-01A-11D-A28G-10	40116080	86934706	162315915	3	46267											
LCE1C	353133	hgsc.bcm.edu	37	1	152777877	152777877	+	Silent	SNP	G	G	A			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr1:152777877G>A	ENST00000607093.1	-	1	77	c.78C>T	c.(76-78)acC>acT	p.T26T	LCE1C_ENST00000368768.1_Silent_p.T26T			Q5T751	LCE1C_HUMAN	late cornified envelope 1C	26	Pro-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)			gacactttggggTGgggcact	0.647																																																0													45	46	46					1																	152777877		2203	4300	6503	SO:0001819	synonymous_variant	353133				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.78C>T	chr1.hg19:g.152777877G>A				Silent	SNP	ENST00000607093.1	hg19	CCDS1026.1																																																																																				0.647	LCE1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034658.2	NM_178351		A	152777877	G	A	152777877	2	1	782	1	0	0	0	0	0	0	0	1	8663	1219	43	2		2	LCE1C	1	152777877	Silent	SNP	G	TCGA-Q2-A5QZ-01A-11D-A28G-10	65843171	152777877	96472744	4	46268											
SPRR2D	6703	hgsc.bcm.edu	37	1	153012642	153012642	+	Missense_Mutation	SNP	G	G	T			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr1:153012642G>T	ENST00000368757.1	-	2	461	c.181C>A	c.(181-183)Cca>Aca	p.P61T	SPRR2D_ENST00000368756.1_Missense_Mutation_p.P61T|SPRR2D_ENST00000368758.3_Missense_Mutation_p.P61T|SPRR2D_ENST00000360379.3_Missense_Mutation_p.P61T			P22532	SPR2D_HUMAN	small proline-rich protein 2D	61					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)			TGGCAGGGTGGGGAAGGTGTC	0.562																																																0													228	212	217					1																	153012642		2203	4298	6501	SO:0001583	missense	6703			AF333954	CCDS30864.1	1q21-q22	2008-02-05			ENSG00000163216	ENSG00000163216			11264	protein-coding gene	gene with protein product						8325635	Standard	NM_006945		Approved		uc001fbb.2	P22532	OTTHUMG00000014396	ENST00000368757.1:c.181C>A	chr1.hg19:g.153012642G>T	ENSP00000357746:p.Pro61Thr		A4QN03|A8K5K2|D3DV33|Q5T523|Q96RM3	Missense_Mutation	SNP	ENST00000368757.1	hg19	CCDS30864.1	.	.	.	.	.	.	.	.	.	.	G	0.024	-1.388841	0.01185	.	.	ENSG00000163216	ENST00000360379;ENST00000368758;ENST00000368757;ENST00000368756	T;T;T;T	0.35048	1.33;1.33;1.33;1.33	3.62	0.403	0.16350	.	1.027660	0.07812	N	0.958367	T	0.09423	0.0232	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.37753	-0.9692	9	0.87932	D	0	.	2.2809	0.04114	0.1152:0.1919:0.4957:0.1972	.	61	P22532	SPR2D_HUMAN	T	61	ENSP00000353542:P61T;ENSP00000357747:P61T;ENSP00000357746:P61T;ENSP00000357745:P61T	ENSP00000353542:P61T	P	-	1	0	SPRR2D	151279266	0.003000	0.15002	0.000000	0.03702	0.016000	0.09150	0.726000	0.25984	-0.130000	0.11599	-0.535000	0.04281	CCA		0.562	SPRR2D-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040051.1			T	153012642	G	T	153012642	3	4	782	1	0	0	0	0	1	0	0	0	15104	1232	43	4	41	4	SPRR2D	1	153012642	Missense_Mutation	SNP	G	TCGA-Q2-A5QZ-01A-11D-A28G-10	234765	153012642	96237979	5	46269											
DUSP23	54935	hgsc.bcm.edu	37	1	159751066	159751066	+	Missense_Mutation	SNP	A	A	T	rs141314838		TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr1:159751066A>T	ENST00000368107.1	+	1	274	c.176A>T	c.(175-177)cAc>cTc	p.H59L	DUSP23_ENST00000368108.3_Missense_Mutation_p.H59L|DUSP23_ENST00000368109.1_Missense_Mutation_p.H59L			Q9BVJ7	DUS23_HUMAN	dual specificity phosphatase 23	59						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			lung(1)	1	all_hematologic(112;0.0537)					CTCACCCTGCACCGCCTGCGC	0.716																																																0													4	4	4					1																	159751066		1795	3557	5352	SO:0001583	missense	54935				CCDS1187.1	1q23.1	2011-06-09			ENSG00000158716	ENSG00000158716		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	21480	protein-coding gene	gene with protein product						15147733	Standard	XM_005245289		Approved	FLJ20442, DUSP25	uc001ftz.1	Q9BVJ7	OTTHUMG00000022795	ENST00000368107.1:c.176A>T	chr1.hg19:g.159751066A>T	ENSP00000357087:p.His59Leu		Q9NX48	Missense_Mutation	SNP	ENST00000368107.1	hg19	CCDS1187.1	.	.	.	.	.	.	.	.	.	.	A	9.461	1.093071	0.20471	.	.	ENSG00000158716	ENST00000368109;ENST00000368108;ENST00000368107	D;D;D	0.82711	-1.64;-1.64;-1.64	4.89	3.76	0.43208	Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.56062	0.1960	L	0.48935	1.535	0.58432	D	0.999997	B	0.24186	0.099	B	0.17433	0.018	T	0.53521	-0.8427	10	0.07644	T	0.81	-38.779	8.8034	0.34923	0.9101:0.0:0.0899:0.0	.	59	Q9BVJ7	DUS23_HUMAN	L	59	ENSP00000357089:H59L;ENSP00000357088:H59L;ENSP00000357087:H59L	ENSP00000357087:H59L	H	+	2	0	DUSP23	158017690	1.000000	0.71417	0.997000	0.53966	0.010000	0.07245	8.405000	0.90213	0.877000	0.35895	-0.441000	0.05720	CAC		0.716	DUSP23-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085552.1	NM_017823		T	159751066	A	T	159751066	3	4	782	1	0	0	0	0	1	0	0	0	4824	159	6	5	178	5	DUSP23	1	159751066	Missense_Mutation	SNP	A	TCGA-Q2-A5QZ-01A-11D-A28G-10	6738424	159751066	89499555	6	46270											
FAM5B	57795	hgsc.bcm.edu	37	1	177242681	177242690	+	Frame_Shift_Del	DEL	GTCAGTTCTG	GTCAGTTCTG	-	rs138487282		TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	GTCAGTTCTG	GTCAGTTCTG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr1:177242681_177242690delGTCAGTTCTG	ENST00000361539.4	+	5	1039_1048	c.727_736delGTCAGTTCTG	c.(727-738)gtcagttctgtcfs	p.VSSV243fs	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	243	MACPF.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)											TCTGGACTCAGTCAGTTCTGTCTTGGTACA	0.443																																																0																																										SO:0001589	frameshift_variant	57795				CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"family with sequence similarity 5, member B"	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.727_736delGTCAGTTCTG	chr1.hg19:g.177242681_177242690delGTCAGTTCTG	ENSP00000354481:p.Val243fs		O95560|Q6ZWC1|Q7LCZ9|Q8N360	Frame_Shift_Del	DEL	ENST00000361539.4	hg19	CCDS1320.1																																																																																				0.443	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165		-	177242690	GTCAGTTCTG	-	177242681	7	5	782	1	0	1	0	1	0	0	0	0	5595	1029	36	0	741	0	FAM5B	1	177242681	Frame_Shift_Del	DEL	GTCAGTTCTG	TCGA-Q2-A5QZ-01A-11D-A28G-10	17491615	177242681	72007940	7	46271											
NFASC	23114	hgsc.bcm.edu	37	1	204985554	204985554	+	Nonsense_Mutation	SNP	G	G	T			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr1:204985554G>T	ENST00000401399.1	+	29	3809	c.3610G>T	c.(3610-3612)Gaa>Taa	p.E1204*	NFASC_ENST00000360049.4_Nonsense_Mutation_p.E1133*|NFASC_ENST00000404076.1_Nonsense_Mutation_p.E1121*|NFASC_ENST00000367172.4_Nonsense_Mutation_p.E1311*|NFASC_ENST00000539706.1_Nonsense_Mutation_p.E1138*|NFASC_ENST00000513543.1_Nonsense_Mutation_p.E1133*|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000404907.1_Nonsense_Mutation_p.E1138*|NFASC_ENST00000339876.6_Nonsense_Mutation_p.E1204*|NFASC_ENST00000367171.4_Nonsense_Mutation_p.E1296*|NFASC_ENST00000367170.4_Nonsense_Mutation_p.E1232*|NFASC_ENST00000338515.6_Nonsense_Mutation_p.E1221*|NFASC_ENST00000338586.6_Nonsense_Mutation_p.E1188*|NFASC_ENST00000367169.4_Nonsense_Mutation_p.E1035*			O94856	NFASC_HUMAN	neurofascin	1311	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TCAGTTCAATGAAGACGGCTC	0.562																																																0													197	175	182					1																	204985554		2203	4300	6503	SO:0001587	stop_gained	23114			AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	29866	protein-coding gene	gene with protein product		609145	"neurofascin homolog (chicken)"			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.3610G>T	chr1.hg19:g.204985554G>T	ENSP00000385637:p.Glu1204*		B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Nonsense_Mutation	SNP	ENST00000401399.1	hg19	CCDS53460.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	45|45	11.626230|11.626230	0.99583|0.99583	.|.	.|.	ENSG00000163531|ENSG00000163531	ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000404076;ENST00000401399;ENST00000404907;ENST00000513543;ENST00000430393;ENST00000447819|ENST00000367173;ENST00000425360	.|.	.|.	.|.	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	0.000000|.	0.51477|.	D|.	0.000096|.	.|T	.|0.74718	.|0.3753	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73553	.|-0.3946	.|4	0.87932|.	D|.	0|.	.|.	18.6493|18.6493	0.91425|0.91425	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	1311;1296;1232;1221;1204;1188;1153;1138;1133;1035;1121;1204;1138;1133;1129;182|1004;261	.|.	ENSP00000295776:E1153X|.	E|M	+|+	1|3	0|0	NFASC|NFASC	203252177|203252177	1.000000|1.000000	0.71417|0.71417	0.966000|0.966000	0.40874|0.40874	0.941000|0.941000	0.58515|0.58515	9.835000|9.835000	0.99442|0.99442	2.484000|2.484000	0.83849|0.83849	0.563000|0.563000	0.77884|0.77884	GAA|ATG		0.562	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388		T	204985554	G	T	204985554	4	4	782	1	0	0	0	0	0	1	0	0	10361	1291	45	4	4133	4	NFASC	1	204985554	Nonsense_Mutation	SNP	G	TCGA-Q2-A5QZ-01A-11D-A28G-10	27742873	204985554	44265067	8	46272											
NRXN1	9378	hgsc.bcm.edu	37	2	50850682	50850682	+	Missense_Mutation	SNP	G	G	T			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr2:50850682G>T	ENST00000406316.2	-	6	2380	c.904C>A	c.(904-906)Caa>Aaa	p.Q302K	NRXN1_ENST00000405472.3_Missense_Mutation_p.Q302K|NRXN1_ENST00000404971.1_Missense_Mutation_p.Q335K|NRXN1_ENST00000406859.3_Missense_Mutation_p.Q302K|NRXN1_ENST00000402717.3_Missense_Mutation_p.Q302K|NRXN1_ENST00000401669.2_Missense_Mutation_p.Q302K|NRXN1_ENST00000331040.5_5'UTR	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	302	Laminin G-like 2. {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)			CTGCTGCTTTGAATGGGGTTT	0.393																																																0													138	129	132					2																	50850682		1869	4095	5964	SO:0001583	missense	9378			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.904C>A	chr2.hg19:g.50850682G>T	ENSP00000384311:p.Gln302Lys		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	hg19	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.378078	0.61735	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.79141	-1.24;-1.24;-1.19;-1.24;-1.19;-1.24	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.81545	0.4845	L	0.38175	1.15	0.49389	D	0.999783	D;P	0.56035	0.974;0.946	P;D	0.68353	0.793;0.957	T	0.73933	-0.3826	10	0.09084	T	0.74	.	19.2231	0.93806	0.0:0.0:1.0:0.0	.	335;302	Q9ULB1-3;F8WB18	.;.	K	335;302;302;302;336;302;302	ENSP00000385142:Q335K;ENSP00000384311:Q302K;ENSP00000434015:Q302K;ENSP00000385017:Q302K;ENSP00000385434:Q302K;ENSP00000385681:Q302K	ENSP00000385017:Q302K	Q	-	1	0	NRXN1	50704186	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.657000	0.98554	2.776000	0.95493	0.650000	0.86243	CAA		0.393	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			T	50850682	G	T	50850682	3	4	782	1	0	0	0	0	1	0	0	0	10667	1299	45	4	3975	4	NRXN1	2	50850682	Missense_Mutation	SNP	G	TCGA-Q2-A5QZ-01A-11D-A28G-10		50850682	192348691	9	46273											
SPOPL	339745	hgsc.bcm.edu	37	2	139322375	139322375	+	Missense_Mutation	SNP	A	A	G			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr2:139322375A>G	ENST00000280098.4	+	9	1314	c.935A>G	c.(934-936)cAc>cGc	p.H312R		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	312					negative regulation of protein ubiquitination (GO:0031397)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		GCAGATTTGCACAGTGCAGAA	0.413																																																0													170	161	164					2																	139322375		2203	4300	6503	SO:0001583	missense	339745				CCDS33298.1	2q22.1	2013-01-09			ENSG00000144228	ENSG00000144228		"BTB/POZ domain containing"	27934	protein-coding gene	gene with protein product	"HIB homolog 2", "roadkill homolog 2"						Standard	NM_001001664		Approved	BTBD33	uc002tvh.3	Q6IQ16	OTTHUMG00000153635	ENST00000280098.4:c.935A>G	chr2.hg19:g.139322375A>G	ENSP00000280098:p.His312Arg			Missense_Mutation	SNP	ENST00000280098.4	hg19	CCDS33298.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.545679	0.86022	.	.	ENSG00000144228	ENST00000280098	T	0.76316	-1.01	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.88749	0.6521	M	0.89353	3.025	0.80722	D	1	D	0.71674	0.998	P	0.62813	0.907	D	0.90622	0.4560	9	.	.	.	-9.3536	15.6521	0.77104	1.0:0.0:0.0:0.0	.	312	Q6IQ16	SPOPL_HUMAN	R	312	ENSP00000280098:H312R	.	H	+	2	0	SPOPL	139038845	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.287000	0.95975	2.161000	0.67846	0.533000	0.62120	CAC		0.413	SPOPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331897.1			G	139322375	A	G	139322375	3	3	782	1	0	0	0	0	1	0	0	0	15090	159	6	3	965	3	SPOPL	2	139322375	Missense_Mutation	SNP	A	TCGA-Q2-A5QZ-01A-11D-A28G-10	88471693	139322375	103876998	10	46274											
SCN9A	6335	hgsc.bcm.edu	37	2	167055820	167055820	+	Missense_Mutation	SNP	C	C	T			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr2:167055820C>T	ENST00000409435.1	-	26	5328	c.5329G>A	c.(5329-5331)Gat>Aat	p.D1777N	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.D1778N|SCN9A_ENST00000409672.1_Missense_Mutation_p.D1766N|SCN9A_ENST00000375387.4_Missense_Mutation_p.D1778N			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1777					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCAAAGTCATCCTCACTCAGA	0.428																																																0													121	125	123					2																	167055820		2203	4300	6503	SO:0001583	missense	6335			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.5329G>A	chr2.hg19:g.167055820C>T	ENSP00000386330:p.Asp1777Asn		A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	hg19	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.837192	0.91117	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	T;T;T;T	0.10005	2.92;2.92;2.92;2.92	5.86	5.86	0.93980	.	0.000000	0.64402	D	0.000006	T	0.48169	0.1485	H	0.94847	3.59	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.61028	-0.7145	10	0.87932	D	0	.	20.1802	0.98196	0.0:1.0:0.0:0.0	.	1766	E7EUN6	.	N	1766;1778;1778;1777	ENSP00000386306:D1766N;ENSP00000364536:D1778N;ENSP00000304748:D1778N;ENSP00000386330:D1777N	ENSP00000304748:D1778N	D	-	1	0	SCN9A	166764066	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.689000	0.84165	2.777000	0.95525	0.655000	0.94253	GAT		0.428	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		T	167055820	C	T	167055820	3	4	782	1	0	0	0	0	1	0	0	0	13931	855	30	2	641	2	SCN9A	2	167055820	Missense_Mutation	SNP	C	TCGA-Q2-A5QZ-01A-11D-A28G-10	27733445	167055820	76143553	11	46275											
GIGYF2	26058	hgsc.bcm.edu	37	2	233671361	233671361	+	Silent	SNP	T	T	A			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr2:233671361T>A	ENST00000409547.1	+	17	2111	c.1800T>A	c.(1798-1800)ccT>ccA	p.P600P	GIGYF2_ENST00000409196.3_Silent_p.P594P|GIGYF2_ENST00000409451.3_Silent_p.P621P|GIGYF2_ENST00000373563.4_Silent_p.P600P|GIGYF2_ENST00000373566.3_Silent_p.P622P|GIGYF2_ENST00000409480.1_Silent_p.P622P|GIGYF2_ENST00000452341.2_Silent_p.P431P	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	600					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)		CTCCCCCTCCTCATATGGTAA	0.433																																																0													111	108	109					2																	233671361		2203	4300	6503	SO:0001819	synonymous_variant	26058			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.1800T>A	chr2.hg19:g.233671361T>A			A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Silent	SNP	ENST00000409547.1	hg19	CCDS33401.1																																																																																				0.433	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		A	233671361	T	A	233671361	2	1	782	1	0	0	0	0	0	0	0	1	6380	1538	54	5		5	GIGYF2	2	233671361	Silent	SNP	T	TCGA-Q2-A5QZ-01A-11D-A28G-10	66615541	233671361	9528012	12	46276											
IQCA1	79781	hgsc.bcm.edu	37	2	237272540	237272540	+	Silent	SNP	C	C	T			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr2:237272540C>T	ENST00000409907.3	-	15	2026	c.1752G>A	c.(1750-1752)ctG>ctA	p.L584L	IQCA1_ENST00000309507.5_Silent_p.L581L|IQCA1_ENST00000431676.2_Silent_p.L543L	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	584							ATP binding (GO:0005524)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TGGCATGGACCAGCATTTTCT	0.512																																																0													167	165	166					2																	237272540		1994	4155	6149	SO:0001819	synonymous_variant	79781			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.1752G>A	chr2.hg19:g.237272540C>T			B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	Silent	SNP	ENST00000409907.3	hg19	CCDS46549.1																																																																																				0.512	IQCA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000329266.1	NM_024726		T	237272540	C	T	237272540	2	4	782	1	0	0	0	0	0	0	0	1	7804	581	21	2		2	IQCA1	2	237272540	Silent	SNP	C	TCGA-Q2-A5QZ-01A-11D-A28G-10	3601179	237272540	5926833	13	46277											
PTPRG	5793	hgsc.bcm.edu	37	3	62189090	62189090	+	Missense_Mutation	SNP	G	G	C			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr3:62189090G>C	ENST00000474889.1	+	12	1998	c.1621G>C	c.(1621-1623)Gcc>Ccc	p.A541P	PTPRG_ENST00000295874.10_Missense_Mutation_p.A541P	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	541					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)		CCTCCCGACGGCCGCCTCAGC	0.687																																																0													17	15	16					3																	62189090		2203	4297	6500	SO:0001583	missense	5793			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.1621G>C	chr3.hg19:g.62189090G>C	ENSP00000418112:p.Ala541Pro		B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	ENST00000474889.1	hg19	CCDS2895.1	.	.	.	.	.	.	.	.	.	.	G	9.459	1.092688	0.20471	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	T;T	0.55760	0.57;0.5	4.39	3.51	0.40186	.	0.179080	0.48286	D	0.000192	T	0.58836	0.2150	L	0.57536	1.79	0.09310	N	1	D;P	0.61080	0.989;0.93	P;P	0.58266	0.836;0.462	T	0.50750	-0.8791	10	0.59425	D	0.04	.	6.385	0.21556	0.0862:0.0:0.5861:0.3277	.	541;541	P23470-2;P23470	.;PTPRG_HUMAN	P	541	ENSP00000418112:A541P;ENSP00000295874:A541P	ENSP00000295874:A541P	A	+	1	0	PTPRG	62164130	0.995000	0.38212	0.010000	0.14722	0.036000	0.12997	4.014000	0.57145	0.959000	0.37980	0.591000	0.81541	GCC		0.687	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841		C	62189090	G	C	62189090	3	2	782	1	0	0	0	0	1	0	0	0	12808	1203	42	4	1667	4	PTPRG	3	62189090	Missense_Mutation	SNP	G	TCGA-Q2-A5QZ-01A-11D-A28G-10		62189090	135833340	14	46278											
KIAA2018	205717	hgsc.bcm.edu	37	3	113376122	113376122	+	Silent	SNP	C	C	T			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr3:113376122C>T	ENST00000478658.1	-	5	4424	c.4407G>A	c.(4405-4407)caG>caA	p.Q1469Q	KIAA2018_ENST00000316407.4_Silent_p.Q1469Q|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	1469	Gln-rich.					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						gctgctgctgctgctgctgct	0.498																																																0													55	66	62					3																	113376122		2188	4278	6466	SO:0001819	synonymous_variant	205717			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.4407G>A	chr3.hg19:g.113376122C>T			Q7Z3L9|Q8IVF3|Q9H8T4	Silent	SNP	ENST00000478658.1	hg19	CCDS43133.1																																																																																				0.498	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		T	113376122	C	T	113376122	2	4	782	1	0	0	0	0	0	0	0	1	8270	796	28	2		2	KIAA2018	3	113376122	Silent	SNP	C	TCGA-Q2-A5QZ-01A-11D-A28G-10	51187032	113376122	84646308	15	46279	499	2									
KIAA2018	205717	hgsc.bcm.edu	37	3	113376128	113376128	+	Silent	SNP	C	C	T			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr3:113376128C>T	ENST00000478658.1	-	5	4418	c.4401G>A	c.(4399-4401)caG>caA	p.Q1467Q	KIAA2018_ENST00000316407.4_Silent_p.Q1467Q|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	1467	Gln-rich.					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						gctgctgctgctgctgctgct	0.493																																																0													52	61	58					3																	113376128		2177	4283	6460	SO:0001819	synonymous_variant	205717			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.4401G>A	chr3.hg19:g.113376128C>T			Q7Z3L9|Q8IVF3|Q9H8T4	Silent	SNP	ENST00000478658.1	hg19	CCDS43133.1																																																																																				0.493	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		T	113376128	C	T	113376128	2	4	782	1	0	0	0	0	0	0	0	1	8270	796	28	2		2	KIAA2018	3	113376128	Silent	SNP	C	TCGA-Q2-A5QZ-01A-11D-A28G-10	6	113376128	84646302	16	46280	499	2									
ROPN1B	152015	hgsc.bcm.edu	37	3	125690910	125690910	+	Missense_Mutation	SNP	G	G	T			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr3:125690910G>T	ENST00000514116.1	+	3	328	c.13G>T	c.(13-15)Gat>Tat	p.D5Y	ROPN1B_ENST00000251776.4_Missense_Mutation_p.D5Y|ROPN1B_ENST00000504401.1_Missense_Mutation_p.D5Y|ROPN1B_ENST00000511862.1_3'UTR			Q9BZX4	ROP1B_HUMAN	rhophilin associated tail protein 1B	5					acrosome reaction (GO:0007340)|cytokinesis (GO:0000910)|fusion of sperm to egg plasma membrane (GO:0007342)|Rho protein signal transduction (GO:0007266)|single organismal cell-cell adhesion (GO:0016337)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(114;0.151)		GGCTCAGACAGATAAGCCAAC	0.517																																																0													54	56	56					3																	125690910		2203	4300	6503	SO:0001583	missense	152015			AF231410	CCDS33841.1	3q21.2	2011-01-20	2011-01-20		ENSG00000114547	ENSG00000114547			31927	protein-coding gene	gene with protein product			"ropporin, rhophilin associated protein 1B"				Standard	XM_005247137		Approved		uc003eih.3	Q9BZX4	OTTHUMG00000162651	ENST00000514116.1:c.13G>T	chr3.hg19:g.125690910G>T	ENSP00000426271:p.Asp5Tyr		D3DNA6|Q96BM7	Missense_Mutation	SNP	ENST00000514116.1	hg19	CCDS33841.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.986274	0.35036	.	.	ENSG00000114547	ENST00000514116;ENST00000251776;ENST00000504401;ENST00000513830;ENST00000508088;ENST00000509879	T;T;T;T	0.50548	1.7;1.7;1.3;0.74	3.37	2.48	0.30137	cAMP-dependent protein kinase, regulatory subunit, type I/II alpha/beta (1);	0.169791	0.40222	N	0.001160	T	0.59224	0.2178	L	0.60455	1.87	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.995;0.998	T	0.57900	-0.7731	10	0.87932	D	0	-2.9193	7.0352	0.24989	0.1362:0.0:0.8638:0.0	.	5;5	B7Z7H1;Q9BZX4	.;ROP1B_HUMAN	Y	5	ENSP00000426271:D5Y;ENSP00000251776:D5Y;ENSP00000425548:D5Y;ENSP00000423058:D5Y	ENSP00000251776:D5Y	D	+	1	0	ROPN1B	127173600	0.992000	0.36948	0.966000	0.40874	0.278000	0.26855	2.272000	0.43373	0.510000	0.28216	0.305000	0.20034	GAT		0.517	ROPN1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369931.1	NM_001012337		T	125690910	G	T	125690910	3	4	782	1	0	0	0	0	1	0	0	0	13530	942	33	4	15	4	ROPN1B	3	125690910	Missense_Mutation	SNP	G	TCGA-Q2-A5QZ-01A-11D-A28G-10	12314782	125690910	72331520	17	46281											
PPP2R3A	5523	hgsc.bcm.edu	37	3	135825108	135825108	+	Silent	SNP	T	T	C			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr3:135825108T>C	ENST00000264977.3	+	13	3890	c.3273T>C	c.(3271-3273)gcT>gcC	p.A1091A	PPP2R3A_ENST00000334546.2_Silent_p.A470A|PPP2R3A_ENST00000490467.1_Silent_p.A355A|PPP2R3A_ENST00000469270.1_3'UTR	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	1091					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						GGTTTGCCGCTGAGGAGTATG	0.453																																																0													74	76	75					3																	135825108		2203	4300	6503	SO:0001819	synonymous_variant	5523			L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "EF-hand domain containing"	9307	protein-coding gene	gene with protein product		604944	"protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.3273T>C	chr3.hg19:g.135825108T>C			A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Silent	SNP	ENST00000264977.3	hg19	CCDS3087.1																																																																																				0.453	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357232.1	NM_002718		C	135825108	T	C	135825108	2	2	782	1	0	0	0	0	0	0	0	1	12393	1567	55	3		3	PPP2R3A	3	135825108	Silent	SNP	T	TCGA-Q2-A5QZ-01A-11D-A28G-10	10134198	135825108	62197322	18	46282											
MFSD1	64747	hgsc.bcm.edu	37	3	158519842	158519842	+	5'Flank	SNP	G	G	A	rs569538342	byFrequency	TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr3:158519842G>A	ENST00000264266.8	+	0	0				RP11-379F4.9_ENST00000607044.1_RNA|MFSD1_ENST00000415822.2_Silent_p.R16R|MFSD1_ENST00000392813.4_Silent_p.R16R			Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing 1						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TGAGCTCCCGGAGTCATGTGA	0.677													G|||	3	0.000599042	0.0023	0.0	5008	,	,		14763	0.0		0.0	False		,,,				2504	0.0				Pancreas(62;1186 1654 36636 37908)											0													29	32	31					3																	158519842		692	1591	2283	SO:0001631	upstream_gene_variant	64747			BC017661	CCDS3185.1, CCDS3185.2, CCDS54666.1	3q25.32	2005-11-17			ENSG00000118855	ENSG00000118855			25874	protein-coding gene	gene with protein product							Standard	NM_022736		Approved	FLJ14153, UG0581B09	uc003fcl.2	Q9H3U5	OTTHUMG00000158835		chr3.hg19:g.158519842G>A	Exception_encountered		B4DGJ8|B4DMR8|B4DU49|B4DWU1|C9JS94|J3KQL7|Q05C07|Q5XKJ1|Q8IVS1|Q8IXG4|Q9H7X1	Silent	SNP	ENST00000264266.8	hg19																																																																																					0.677	MFSD1-018	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470730.1	NM_022736		A	158519842	G	A	158519842	1	1	782	0	1	0	0	0	0	0	0	0	9529	1161	41	2		2	MFSD1	3	158519842	5'Flank	SNP	G	TCGA-Q2-A5QZ-01A-11D-A28G-10	22694734	158519842	39502588	19	46283											
YEATS2	55689	hgsc.bcm.edu	37	3	183525842	183525842	+	Missense_Mutation	SNP	G	G	T			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr3:183525842G>T	ENST00000305135.5	+	29	4231	c.4036G>T	c.(4036-4038)Gca>Tca	p.A1346S	YEATS2-AS1_ENST00000425008.3_RNA|YEATS2-AS1_ENST00000609195.1_RNA|YEATS2-AS1_ENST00000609871.1_RNA	NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	1346					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)			GCAGCCCGTGGCACTCCACAG	0.572																																																0													44	46	45					3																	183525842		2006	4162	6168	SO:0001583	missense	55689			AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.4036G>T	chr3.hg19:g.183525842G>T	ENSP00000306983:p.Ala1346Ser		A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP	ENST00000305135.5	hg19	CCDS43175.1	.	.	.	.	.	.	.	.	.	.	G	18.95	3.732056	0.69189	.	.	ENSG00000163872	ENST00000421660;ENST00000305135	T	0.22134	1.97	5.53	4.63	0.57726	.	0.290196	0.31347	N	0.007819	T	0.12817	0.0311	N	0.08118	0	0.32028	N	0.599863	B	0.20368	0.044	B	0.15870	0.014	T	0.04991	-1.0913	10	0.59425	D	0.04	-14.0042	15.0579	0.71930	0.0:0.1431:0.8569:0.0	.	1346	Q9ULM3	YETS2_HUMAN	S	1346	ENSP00000306983:A1346S	ENSP00000306983:A1346S	A	+	1	0	YEATS2	185008536	1.000000	0.71417	0.918000	0.36340	0.889000	0.51656	5.256000	0.65468	1.291000	0.44653	0.561000	0.74099	GCA		0.572	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023		T	183525842	G	T	183525842	3	4	782	1	0	0	0	0	1	0	0	0	17477	1203	42	4	4146	4	YEATS2	3	183525842	Missense_Mutation	SNP	G	TCGA-Q2-A5QZ-01A-11D-A28G-10	25006000	183525842	14496588	20	46284											
DGKG	1608	hgsc.bcm.edu	37	3	185960324	185960324	+	Nonsense_Mutation	SNP	T	T	A			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr3:185960324T>A	ENST00000265022.3	-	20	2334	c.1795A>T	c.(1795-1797)Aga>Tga	p.R599*	DGKG_ENST00000382164.4_Nonsense_Mutation_p.R560*|DGKG_ENST00000344484.4_Nonsense_Mutation_p.R574*|DGKG_ENST00000544847.1_Nonsense_Mutation_p.R540*	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	599					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)	TGTTTCTCTCTCATCACATGG	0.547											OREG0015965	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													100	87	92					3																	185960324		2203	4300	6503	SO:0001587	stop_gained	1608			AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"EF-hand domain containing"	2853	protein-coding gene	gene with protein product		601854	"diacylglycerol kinase, gamma (90kD)"	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.1795A>T	chr3.hg19:g.185960324T>A	ENSP00000265022:p.Arg599*	2003	B2RAH4|Q2M1H4|Q5FWG1	Nonsense_Mutation	SNP	ENST00000265022.3	hg19	CCDS3274.1	.	.	.	.	.	.	.	.	.	.	T	46	12.295792	0.99654	.	.	ENSG00000058866	ENST00000265022;ENST00000344484;ENST00000382164;ENST00000544847;ENST00000538691	.	.	.	5.38	-0.167	0.13347	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.3395	0.66617	0.0:0.0:0.4781:0.5218	.	.	.	.	X	599;574;560;540;563	.	ENSP00000265022:R599X	R	-	1	2	DGKG	187443018	0.993000	0.37304	1.000000	0.80357	0.992000	0.81027	0.192000	0.17096	0.099000	0.17552	0.533000	0.62120	AGA		0.547	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344800.3			A	185960324	T	A	185960324	4	1	782	1	0	0	0	0	0	1	0	0	4471	1559	54	5	604	5	DGKG	3	185960324	Nonsense_Mutation	SNP	T	TCGA-Q2-A5QZ-01A-11D-A28G-10	2434482	185960324	12062106	21	46285											
CRIPAK	285464	hgsc.bcm.edu	37	4	1388661	1388665	+	Frame_Shift_Del	DEL	CGATG	CGATG	-	rs199774688|rs150559021|rs9762106	byFrequency	TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	CGATG	CGATG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr4:1388661_1388665delCGATG	ENST00000324803.4	+	1	3322_3326	c.362_366delCGATG	c.(361-366)ccgatgfs	p.PM121fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	121					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)			TCACACGTGCCGATGCGGAGTGCCC	0.678																																																0																																										SO:0001589	frameshift_variant	285464			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.362_366delCGATG	chr4.hg19:g.1388661_1388665delCGATG	ENSP00000323978:p.Pro121fs		Q8NB03	Frame_Shift_Del	DEL	ENST00000324803.4	hg19	CCDS3349.1																																																																																				0.678	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		-	1388665	CGATG	-	1388661	7	5	782	1	0	1	0	1	0	0	0	0	3879	652	23	0	364	0	CRIPAK	4	1388661	Frame_Shift_Del	DEL	CGATG	TCGA-Q2-A5QZ-01A-11D-A28G-10		1388661	189765615	22	46286											
PPP2R2C	5522	hgsc.bcm.edu	37	4	6335365	6335365	+	Missense_Mutation	SNP	T	T	C			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr4:6335365T>C	ENST00000382599.4	-	7	1100	c.884A>G	c.(883-885)tAc>tGc	p.Y295C	PPP2R2C_ENST00000335585.5_Missense_Mutation_p.Y295C|PPP2R2C_ENST00000515571.1_Missense_Mutation_p.Y278C|PPP2R2C_ENST00000507294.1_Missense_Mutation_p.Y288C|PPP2R2C_ENST00000506140.1_Missense_Mutation_p.Y288C			Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	295					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						GGTGAGCATGTAGCGGCCGCT	0.572											OREG0016071	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													110	105	107					4																	6335365		2203	4300	6503	SO:0001583	missense	5522			AF086924	CCDS3388.1, CCDS56304.1, CCDS56305.1, CCDS3387.1	4p16.1	2013-01-10	2010-04-14		ENSG00000074211	ENSG00000074211	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "WD repeat domain containing"	9306	protein-coding gene	gene with protein product	"PP2A subunit B isoform gamma"	605997	"protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), gamma isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B, gamma isoform"			10574460, 10945473	Standard	NM_020416		Approved	PR52, IMYPNO, MGC33570, PR55G	uc003gja.3	Q9Y2T4	OTTHUMG00000090445	ENST00000382599.4:c.884A>G	chr4.hg19:g.6335365T>C	ENSP00000372042:p.Tyr295Cys	633	A8MSY7|B7Z3Y1|Q7Z4V7|Q8NEC4|Q9H3G7	Missense_Mutation	SNP	ENST00000382599.4	hg19		.	.	.	.	.	.	.	.	.	.	T	16.16	3.044169	0.55110	.	.	ENSG00000074211	ENST00000335585;ENST00000506140;ENST00000515571;ENST00000382599;ENST00000507294	T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44	4.11	1.24	0.21308	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.286388	0.35320	N	0.003299	T	0.59636	0.2208	H	0.94222	3.51	0.80722	D	1	D;D;D;D	0.67145	0.994;0.987;0.996;0.977	D;D;D;P	0.67900	0.933;0.926;0.954;0.87	T	0.66228	-0.5976	10	0.87932	D	0	.	9.1465	0.36937	0.3036:0.0:0.0:0.6964	.	288;295;278;295	B7Z3Y1;Q9Y2T4;Q9Y2T4-3;Q9Y2T4-2	.;2ABG_HUMAN;.;.	C	295;288;278;295;288	ENSP00000335083:Y295C;ENSP00000423649:Y288C;ENSP00000422374:Y278C;ENSP00000372042:Y295C;ENSP00000425247:Y288C	ENSP00000335083:Y295C	Y	-	2	0	PPP2R2C	6386266	1.000000	0.71417	0.995000	0.50966	0.715000	0.41141	5.431000	0.66507	0.586000	0.29626	0.402000	0.26972	TAC		0.572	PPP2R2C-001	NOVEL	overlapping_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206889.2	NM_181876		C	6335365	T	C	6335365	3	2	782	1	0	0	0	0	1	0	0	0	12391	1638	57	3	471	3	PPP2R2C	4	6335365	Missense_Mutation	SNP	T	TCGA-Q2-A5QZ-01A-11D-A28G-10	4946704	6335365	184818911	23	46287											
ATP10D	57205	hgsc.bcm.edu	37	4	47593174	47593174	+	Missense_Mutation	SNP	G	G	T			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr4:47593174G>T	ENST00000273859.3	+	23	4326	c.4057G>T	c.(4057-4059)Gct>Tct	p.A1353S		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1353					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						GTGGAGAGGGGCTGGAAAGAT	0.468																																																0													107	108	108					4																	47593174		2203	4300	6503	SO:0001583	missense	57205			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.4057G>T	chr4.hg19:g.47593174G>T	ENSP00000273859:p.Ala1353Ser		A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	ENST00000273859.3	hg19	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.305821	0.40795	.	.	ENSG00000145246	ENST00000273859	T	0.38401	1.14	4.62	-2.03	0.07365	.	0.657993	0.13943	N	0.352047	T	0.20981	0.0505	L	0.51422	1.61	0.19775	N	0.999953	B	0.13145	0.007	B	0.08055	0.003	T	0.34576	-0.9823	10	0.09590	T	0.72	-0.9921	1.5641	0.02601	0.337:0.1313:0.3977:0.1341	.	1353	Q9P241	AT10D_HUMAN	S	1353	ENSP00000273859:A1353S	ENSP00000273859:A1353S	A	+	1	0	ATP10D	47287931	0.000000	0.05858	0.000000	0.03702	0.410000	0.31052	-0.016000	0.12613	-0.789000	0.04498	0.460000	0.39030	GCT		0.468	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		T	47593174	G	T	47593174	3	4	782	1	0	0	0	0	1	0	0	0	1118	1203	42	4	4143	4	ATP10D	4	47593174	Missense_Mutation	SNP	G	TCGA-Q2-A5QZ-01A-11D-A28G-10	41257809	47593174	143561102	24	46288											
DSPP	1834	hgsc.bcm.edu	37	4	88536436	88536436	+	Silent	SNP	C	C	T			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr4:88536436C>T	ENST00000282478.7	+	4	2655	c.2622C>T	c.(2620-2622)agC>agT	p.S874S	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Silent_p.S874S			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	874	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		gtgacagcagcaacagcagtg	0.502																																																0													70	85	79					4																	88536436		1641	2936	4577	SO:0001819	synonymous_variant	1834			AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.2622C>T	chr4.hg19:g.88536436C>T			A8MUI0|O95815	Silent	SNP	ENST00000282478.7	hg19	CCDS43248.1																																																																																				0.502	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		T	88536436	C	T	88536436	2	4	782	1	0	0	0	0	0	0	0	1	4784	709	25	2		2	DSPP	4	88536436	Silent	SNP	C	TCGA-Q2-A5QZ-01A-11D-A28G-10	40943262	88536436	102617840	25	46289											
TLX3	30012	hgsc.bcm.edu	37	5	170736390	170736390	+	Silent	SNP	G	G	A	rs537348276		TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr5:170736390G>A	ENST00000296921.5	+	1	103	c.21G>A	c.(19-21)gcG>gcA	p.A7A		NM_021025.2	NP_066305.2	O43711	TLX3_HUMAN	T-cell leukemia homeobox 3	7					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)			CCGCCAGCGCGCAGACCCCGC	0.771			T	BCL11B	T-ALL																																Esophageal Squamous(33;43 807 3116 3348 30094)		Dom	yes		5	5q35.1	30012	"T-cell leukemia, homeobox 3 (HOX11L2)"		L	0													11	13	12					5																	170736390		2176	4263	6439	SO:0001819	synonymous_variant	30012			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.21G>A	chr5.hg19:g.170736390G>A			Q96AD3	Silent	SNP	ENST00000296921.5	hg19	CCDS34288.1																																																																																				0.771	TLX3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372076.3			A	170736390	G	A	170736390	2	1	782	1	0	0	0	0	0	0	0	1	15967	1074	38	1		1	TLX3	5	170736390	Silent	SNP	G	TCGA-Q2-A5QZ-01A-11D-A28G-10		170736390	10178870	26	46290											
OR10C1	442194	hgsc.bcm.edu	37	6	29408232	29408232	+	Missense_Mutation	SNP	C	C	T			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr6:29408232C>T	ENST00000444197.2	+	1	1150	c.440C>T	c.(439-441)gCg>gTg	p.A147V	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	147						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						GCTGGGTCGGCGTGGGCCTGT	0.622																																																0													80	91	87					6																	29408232		1509	2709	4218	SO:0001583	missense	442194				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.440C>T	chr6.hg19:g.29408232C>T	ENSP00000419119:p.Ala147Val		Q5SUN7|Q96R18	Missense_Mutation	SNP	ENST00000444197.2	hg19	CCDS34364.1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.434952	0.43224	.	.	ENSG00000206474	ENST00000444197	T	0.34859	1.34	3.53	3.53	0.40419	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38897	N	0.001526	T	0.29028	0.0721	N	0.16708	0.43	0.09310	N	1	D	0.67145	0.996	D	0.67725	0.953	T	0.18650	-1.0330	10	0.87932	D	0	.	14.9009	0.70678	0.0:1.0:0.0:0.0	.	147	Q96KK4	O10C1_HUMAN	V	147	ENSP00000419119:A147V	ENSP00000419119:A147V	A	+	2	0	OR10C1	29516211	0.000000	0.05858	0.027000	0.17364	0.033000	0.12548	-1.281000	0.02802	1.805000	0.52779	0.508000	0.49915	GCG		0.622	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076415.2			T	29408232	C	T	29408232	3	4	782	1	0	0	0	0	1	0	0	0	10900	768	27	1	442	1	OR10C1	6	29408232	Missense_Mutation	SNP	C	TCGA-Q2-A5QZ-01A-11D-A28G-10		29408232	141706835	27	46291											
HLA-C	3107	hgsc.bcm.edu	37	6	31239552	31239552	+	Missense_Mutation	SNP	T	T	A	rs41545521		TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr6:31239552T>A	ENST00000376228.5	-	2	181	c.167A>T	c.(166-168)cAg>cTg	p.Q56L	HLA-C_ENST00000383329.3_Missense_Mutation_p.Q56L	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	56	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|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						CCGCACGAACTGCGTGTCGTC	0.701																																																0													40	38	38					6																	31239552		1511	2707	4218	SO:0001583	missense	3107			M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4933	protein-coding gene	gene with protein product		142840	"psoriasis susceptibility 1"	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.167A>T	chr6.hg19:g.31239552T>A	ENSP00000365402:p.Gln56Leu		O02864|O02958|Q29643|Q9MY30	Missense_Mutation	SNP	ENST00000376228.5	hg19	CCDS34393.1	.	.	.	.	.	.	.	.	.	.	-	12.33	1.906500	0.33628	.	.	ENSG00000204525	ENST00000376228;ENST00000383329;ENST00000396254;ENST00000539307	T;T	0.00014	9.2;9.2	2.81	2.81	0.32909	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	1.195700	0.06728	N	0.776207	T	0.00178	0.0005	M	0.90542	3.125	0.26353	N	0.977175	D;D;D;D	0.67145	0.978;0.978;0.978;0.996	D;D;D;D	0.79108	0.98;0.98;0.98;0.992	T	0.41592	-0.9500	10	0.66056	D	0.02	.	7.4347	0.27148	0.0:0.0:0.0:1.0	.	56;56;56;56	A2AEA4;A6H578;A2AEA2;P10321	.;.;.;1C07_HUMAN	L	56;56;56;93	ENSP00000365402:Q56L;ENSP00000372819:Q56L	ENSP00000365402:Q56L	Q	-	2	0	HLA-C	31347531	0.000000	0.05858	1.000000	0.80357	0.175000	0.22909	-0.001000	0.12947	1.536000	0.49237	0.254000	0.18369	CAG		0.701	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076281.3	NM_002117		A	31239552	T	A	31239552	3	1	782	1	0	0	0	0	1	0	0	0	7199	1580	55	5	961	5	HLA-C	6	31239552	Missense_Mutation	SNP	T	TCGA-Q2-A5QZ-01A-11D-A28G-10	1831320	31239552	139875515	28	46292											
CD2AP	23607	hgsc.bcm.edu	37	6	47471115	47471115	+	Missense_Mutation	SNP	A	A	T			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr6:47471115A>T	ENST00000359314.5	+	2	560	c.104A>T	c.(103-105)gAa>gTa	p.E35V		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	35	Interaction with ANLN and localization to the midbody.|SH3 1; truncated. {ECO:0000255|PROSITE- ProRule:PRU00192}.				mitotic nuclear division (GO:0007067)|negative regulation of transforming growth factor beta1 production (GO:0032911)|positive regulation of protein localization to nucleus (GO:1900182)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of receptor-mediated endocytosis (GO:0048259)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|substrate-dependent cell migration, cell extension (GO:0006930)|vesicle organization (GO:0016050)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			CTACAGGAGGAAGGGTGGCTG	0.378																																																0													139	134	135					6																	47471115		2203	4300	6503	SO:0001583	missense	23607			AF146277	CCDS34472.1	6p12	2008-02-05			ENSG00000198087	ENSG00000198087			14258	protein-coding gene	gene with protein product		604241				10339567	Standard	NM_012120		Approved	CMS	uc003oyw.3	Q9Y5K6	OTTHUMG00000014799	ENST00000359314.5:c.104A>T	chr6.hg19:g.47471115A>T	ENSP00000352264:p.Glu35Val		A6NL34|Q5VYA3|Q9UG97	Missense_Mutation	SNP	ENST00000359314.5	hg19	CCDS34472.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.024553	0.75390	.	.	ENSG00000198087	ENST00000359314	T	0.54071	0.59	4.68	4.68	0.58851	Src homology-3 domain (4);	0.560263	0.21123	N	0.079786	T	0.63698	0.2533	M	0.75264	2.295	0.48452	D	0.999652	D	0.89917	1.0	D	0.83275	0.996	T	0.64935	-0.6290	10	0.38643	T	0.18	-17.8438	14.1476	0.65360	1.0:0.0:0.0:0.0	.	35	Q9Y5K6	CD2AP_HUMAN	V	35	ENSP00000352264:E35V	ENSP00000352264:E35V	E	+	2	0	CD2AP	47579074	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.530000	0.73816	1.735000	0.51646	0.533000	0.62120	GAA		0.378	CD2AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040817.2			T	47471115	A	T	47471115	3	4	782	1	0	0	0	0	1	0	0	0	2996	246	9	5	110	5	CD2AP	6	47471115	Missense_Mutation	SNP	A	TCGA-Q2-A5QZ-01A-11D-A28G-10	16231563	47471115	123643952	29	46293											
C6orf138	442213	hgsc.bcm.edu	37	6	48036108	48036108	+	Missense_Mutation	SNP	T	T	C			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr6:48036108T>C	ENST00000339488.4	-	1	317	c.284A>G	c.(283-285)gAc>gGc	p.D95G	PTCHD4_ENST00000543600.1_Missense_Mutation_p.D78G	NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	95						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										TTTGGACTGGTCCAGGGGGAA	0.627																																																0													72	79	77					6																	48036108		1946	4139	6085	SO:0001583	missense	442213				CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 138"	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.284A>G	chr6.hg19:g.48036108T>C	ENSP00000341914:p.Asp95Gly		B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	hg19	CCDS34473.2	.	.	.	.	.	.	.	.	.	.	T	18.19	3.569479	0.65765	.	.	ENSG00000244694	ENST00000339488;ENST00000543600	D;T	0.92397	-3.03;0.62	4.88	4.88	0.63580	.	0.103230	0.64402	D	0.000006	D	0.91088	0.7195	L	0.51422	1.61	0.80722	D	1	P;D	0.67145	0.826;0.996	B;P	0.57620	0.438;0.824	D	0.90227	0.4276	10	0.34782	T	0.22	.	14.4665	0.67488	0.0:0.0:0.0:1.0	.	95;78	Q6ZW05;B0QZ29	CF138_HUMAN;.	G	95;78	ENSP00000341914:D95G;ENSP00000439864:D78G	ENSP00000341914:D95G	D	-	2	0	C6orf138	48144067	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.602000	0.82796	1.813000	0.52934	0.460000	0.39030	GAC		0.627	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		C	48036108	T	C	48036108	3	2	782	1	0	0	0	0	1	0	0	0	2334	1667	58	3	2268	3	C6orf138	6	48036108	Missense_Mutation	SNP	T	TCGA-Q2-A5QZ-01A-11D-A28G-10	564993	48036108	123078959	30	46294											
PKHD1	5314	hgsc.bcm.edu	37	6	51890186	51890186	+	Frame_Shift_Del	DEL	C	C	-			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr6:51890186delC	ENST00000371117.3	-	32	4697	c.4422delG	c.(4420-4422)gggfs	p.G1474fs	PKHD1_ENST00000340994.4_Frame_Shift_Del_p.G1474fs	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1474	IPT/TIG 9.				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)					GAGTGCAATTCCCCTGACACT	0.542																																																0													57	52	54					6																	51890186		2203	4300	6503	SO:0001589	frameshift_variant	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.4422delG	chr6.hg19:g.51890186delC	ENSP00000360158:p.Gly1474fs		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Frame_Shift_Del	DEL	ENST00000371117.3	hg19	CCDS4935.1																																																																																				0.542	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		-	51890186	C	-	51890186	7	5	782	1	0	1	0	1	0	0	0	0	11973	842	30	0	7985	0	PKHD1	6	51890186	Frame_Shift_Del	DEL	C	TCGA-Q2-A5QZ-01A-11D-A28G-10	3854078	51890186	119224881	31	46295											
LRRC1	55227	hgsc.bcm.edu	37	6	53764574	53764575	+	Frame_Shift_Del	DEL	TT	TT	-	rs550591899		TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	TT	TT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr6:53764574_53764575delTT	ENST00000370888.1	+	8	949_950	c.672_673delTT	c.(670-675)tgtttafs	p.L225fs		NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	225						cytoplasm (GO:0005737)|membrane (GO:0016020)				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		ACCTGCTGTGTTTAGATGTCTC	0.391																																																0																																										SO:0001589	frameshift_variant	55227			AF332199	CCDS4953.2	6p12.2	2014-07-30	2003-11-19		ENSG00000137269	ENSG00000137269			14307	protein-coding gene	gene with protein product		608195	"leucine-rich repeat-containing 1"				Standard	NM_018214		Approved	dJ523E19.1, LANO, FLJ10775, FLJ11834	uc003pcd.1	Q9BTT6	OTTHUMG00000014885	ENST00000370888.1:c.672_673delTT	chr6.hg19:g.53764574_53764575delTT	ENSP00000359925:p.Leu225fs		Q5TGN3|Q9HAC0|Q9NVF1	Frame_Shift_Del	DEL	ENST00000370888.1	hg19	CCDS4953.2																																																																																				0.391	LRRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040970.2	NM_025168		-	53764575	TT	-	53764574	7	5	782	1	0	1	0	1	0	0	0	0	8968	1731	60	0	702	0	LRRC1	6	53764574	Frame_Shift_Del	DEL	TT	TCGA-Q2-A5QZ-01A-11D-A28G-10	1874388	53764574	117350493	32	46296											
ZNF451	26036	hgsc.bcm.edu	37	6	56989656	56989656	+	Splice_Site	SNP	G	G	A			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr6:56989656G>A	ENST00000370706.4	+	4	555	c.311G>A	c.(310-312)aGa>aAa	p.R104K	RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|ZNF451_ENST00000491832.2_Splice_Site_p.R104K|ZNF451_ENST00000357489.3_Splice_Site_p.R104K|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	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)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			AGAGCATTCAGAGTATGTGCT	0.289																																																0													35	33	34					6																	56989656		2203	4298	6501	SO:0001630	splice_region_variant	26036			AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"Zinc fingers, C2H2-type"	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.312+1G>A	chr6.hg19:g.56989656G>A			Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Missense_Mutation	SNP	ENST00000370706.4	hg19	CCDS43477.1	.	.	.	.	.	.	.	.	.	.	G	10.81	1.456326	0.26161	.	.	ENSG00000112200	ENST00000510483;ENST00000370706;ENST00000357489;ENST00000491832	T;T;T;T	0.05996	3.36;3.36;3.36;3.36	5.37	5.37	0.77165	.	0.061002	0.64402	D	0.000003	T	0.01156	0.0038	N	0.17082	0.46	0.80722	D	1	B;B;B;B	0.20887	0.049;0.037;0.027;0.037	B;B;B;B	0.15484	0.013;0.008;0.008;0.008	T	0.43360	-0.9396	10	0.06625	T	0.88	-16.7164	7.7021	0.28630	0.2013:0.0:0.7987:0.0	.	104;104;104;104	Q9Y4E5-2;Q9Y4E5;E9PH99;Q4KMR5	.;ZN451_HUMAN;.;.	K	76;104;104;104	ENSP00000427558:R76K;ENSP00000359740:R104K;ENSP00000350083:R104K;ENSP00000421645:R104K	ENSP00000350083:R104K	R	+	2	0	ZNF451	57097615	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	4.870000	0.63035	2.665000	0.90641	0.655000	0.94253	AGA		0.289	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041035.2	NM_015555	Missense_Mutation	A	56989656	G	A	56989656	5	1	782	1	0	0	0	0	0	0	1	0	17927	956	33	2	325	2	ZNF451	6	56989656	Splice_Site	SNP	G	TCGA-Q2-A5QZ-01A-11D-A28G-10	3225082	56989656	114125411	33	46297											
PHF3	23469	hgsc.bcm.edu	37	6	64394128	64394128	+	Missense_Mutation	SNP	G	G	A			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr6:64394128G>A	ENST00000262043.3	+	4	845	c.505G>A	c.(505-507)Gct>Act	p.A169T	PHF3_ENST00000509330.1_Missense_Mutation_p.A169T|PHF3_ENST00000393387.1_Missense_Mutation_p.A169T			Q92576	PHF3_HUMAN	PHD finger protein 3	169					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)			TGTATCTACTGCTAAAGCAGG	0.418																																					GBM(135;136 1820 29512 34071 46235)											0													176	182	180					6																	64394128		2203	4300	6503	SO:0001583	missense	23469			AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"Zinc fingers, PHD-type"	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.505G>A	chr6.hg19:g.64394128G>A	ENSP00000262043:p.Ala169Thr		A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	hg19	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	G	7.135	0.580718	0.13686	.	.	ENSG00000118482	ENST00000481385;ENST00000262043;ENST00000494284;ENST00000509330;ENST00000393387;ENST00000514822	T;T;T;T;T	0.41758	2.0;2.31;1.99;0.99;2.31	5.92	2.2	0.27929	.	1.243890	0.06006	N	0.648726	T	0.05686	0.0149	N	0.03608	-0.345	0.09310	N	0.999998	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.29941	-0.9995	10	0.21540	T	0.41	-2.6584	2.9393	0.05825	0.1274:0.5534:0.1251:0.1941	.	169;169	Q92576;D6R9X2	PHF3_HUMAN;.	T	81;169;122;169;169;99	ENSP00000425227:A81T;ENSP00000262043:A169T;ENSP00000424078:A122T;ENSP00000422841:A169T;ENSP00000377048:A169T	ENSP00000262043:A169T	A	+	1	0	PHF3	64452087	0.066000	0.20996	0.643000	0.29450	0.707000	0.40811	0.935000	0.28924	0.120000	0.18254	-0.139000	0.14373	GCT		0.418	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			A	64394128	G	A	64394128	3	1	782	1	0	0	0	0	1	0	0	0	11838	1319	46	2	515	2	PHF3	6	64394128	Missense_Mutation	SNP	G	TCGA-Q2-A5QZ-01A-11D-A28G-10	7404472	64394128	106720939	34	46298											
UNC93A	54346	hgsc.bcm.edu	37	6	167709627	167709627	+	Missense_Mutation	SNP	C	C	T	rs538293568		TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr6:167709627C>T	ENST00000230256.3	+	3	552	c.377C>T	c.(376-378)gCg>gTg	p.A126V	UNC93A_ENST00000366830.2_3'UTR|UNC93A_ENST00000366829.2_Missense_Mutation_p.A126V	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	126						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		GCAGAGAAGGCGGGAAAGCGT	0.547													C|||	1	0.000199681	0.0	0.0	5008	,	,		22340	0.001		0.0	False		,,,				2504	0.0															0													224	203	210					6																	167709627		2203	4300	6503	SO:0001583	missense	54346			AJ508812	CCDS5300.1, CCDS47515.1	6q27	2014-05-16	2001-11-28		ENSG00000112494	ENSG00000112494			12570	protein-coding gene	gene with protein product		607995	"unc93 (C.elegans) homolog A"			12381271	Standard	NM_001143947		Approved	dJ366N23.2, dJ366N23.1	uc003qvq.3	Q86WB7	OTTHUMG00000016021	ENST00000230256.3:c.377C>T	chr6.hg19:g.167709627C>T	ENSP00000230256:p.Ala126Val		B3KRP5|Q4QQJ4|Q5JZD6	Missense_Mutation	SNP	ENST00000230256.3	hg19	CCDS5300.1	.	.	.	.	.	.	.	.	.	.	C	5.524	0.281564	0.10458	.	.	ENSG00000112494	ENST00000503433;ENST00000230256;ENST00000366829	T;T;T	0.30981	1.51;3.54;3.52	5.53	-3.43	0.04810	Major facilitator superfamily domain, general substrate transporter (1);	1.006790	0.07968	N	0.983528	T	0.04634	0.0126	N	0.17723	0.515	0.09310	N	1	B;B	0.16166	0.016;0.006	B;B	0.13407	0.009;0.009	T	0.37244	-0.9714	10	0.25106	T	0.35	-1.2474	4.3328	0.11071	0.3325:0.2722:0.0:0.3953	.	126;126	Q4QQJ4;Q86WB7	.;UN93A_HUMAN	V	126	ENSP00000421484:A126V;ENSP00000230256:A126V;ENSP00000355794:A126V	ENSP00000230256:A126V	A	+	2	0	UNC93A	167629617	0.020000	0.18652	0.000000	0.03702	0.018000	0.09664	1.103000	0.31062	-1.274000	0.02421	-0.890000	0.02929	GCG		0.547	UNC93A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043125.2	NM_018974		T	167709627	C	T	167709627	3	4	782	1	0	0	0	0	1	0	0	0	17001	768	27	1	387	1	UNC93A	6	167709627	Missense_Mutation	SNP	C	TCGA-Q2-A5QZ-01A-11D-A28G-10	103315499	167709627	3405440	35	46299											
TRA2A	29896	hgsc.bcm.edu	37	7	23547073	23547073	+	Missense_Mutation	SNP	G	G	A			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr7:23547073G>A	ENST00000297071.4	-	5	823	c.607C>T	c.(607-609)Cca>Tca	p.P203S	TRA2A_ENST00000474586.1_5'UTR|TRA2A_ENST00000538367.1_Missense_Mutation_p.P102S|TRA2A_ENST00000392502.4_Missense_Mutation_p.P102S	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)	203	Linker.				mRNA splicing, via spliceosome (GO:0000398)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						CCTGGTGTTGGTGTGTGCGCT	0.413																																					Pancreas(121;2137 2973 46590)											0													249	237	241					7																	23547073		2203	4300	6503	SO:0001583	missense	29896			U53209	CCDS5383.1, CCDS64609.1, CCDS75569.1	7p15.3	2014-02-12			ENSG00000164548	ENSG00000164548		"RNA binding motif (RRM) containing"	16645	protein-coding gene	gene with protein product		602718				8799144, 9546399	Standard	XM_005249725		Approved	htra-2-alpha, tra2a, AWMS1	uc003swi.3	Q13595	OTTHUMG00000128459	ENST00000297071.4:c.607C>T	chr7.hg19:g.23547073G>A	ENSP00000297071:p.Pro203Ser		B4DUA9	Missense_Mutation	SNP	ENST00000297071.4	hg19	CCDS5383.1	.	.	.	.	.	.	.	.	.	.	G	34	5.300909	0.95601	.	.	ENSG00000164548	ENST00000297071;ENST00000392502;ENST00000538367	T;T;T	0.74106	-0.81;-0.81;-0.81	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.87293	0.6141	M	0.88906	2.99	0.80722	D	1	D	0.55800	0.973	P	0.58577	0.841	D	0.88826	0.3302	10	0.59425	D	0.04	-12.1484	19.5178	0.95171	0.0:0.0:1.0:0.0	.	203	Q13595	TRA2A_HUMAN	S	203;102;102	ENSP00000297071:P203S;ENSP00000376290:P102S;ENSP00000441116:P102S	ENSP00000297071:P203S	P	-	1	0	TRA2A	23513598	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.831000	0.99420	2.615000	0.88500	0.650000	0.86243	CCA		0.413	TRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250257.1	NM_013293		A	23547073	G	A	23547073	3	1	782	1	0	0	0	0	1	0	0	0	16438	1261	44	2	257	2	TRA2A	7	23547073	Missense_Mutation	SNP	G	TCGA-Q2-A5QZ-01A-11D-A28G-10		23547073	135591590	36	46300											
KIAA1324L	222223	hgsc.bcm.edu	37	7	86577110	86577110	+	Frame_Shift_Del	DEL	A	A	-	rs536741266		TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr7:86577110delA	ENST00000450689.2	-	3	624	c.439delT	c.(439-441)tctfs	p.S147fs	KIAA1324L_ENST00000444627.1_Frame_Shift_Del_p.S147fs|KIAA1324L_ENST00000416314.1_Intron	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	147						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					GCGATGTTAGAAAATCCTGCC	0.473																																																0													124	101	108					7																	86577110		692	1591	2283	SO:0001589	frameshift_variant	222223			AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"EIG121-like"	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.439delT	chr7.hg19:g.86577110delA	ENSP00000413445:p.Ser147fs		A4D1C9|B4DJV3|Q17RI6|Q96DP2	Frame_Shift_Del	DEL	ENST00000450689.2	hg19	CCDS47632.1																																																																																				0.473	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3	NM_152748		-	86577110	A	-	86577110	7	5	782	1	0	1	0	1	0	0	0	0	8226	246	9	0	2730	0	KIAA1324L	7	86577110	Frame_Shift_Del	DEL	A	TCGA-Q2-A5QZ-01A-11D-A28G-10	63030037	86577110	72561553	37	46301											
ARPC1B	10095	hgsc.bcm.edu	37	7	98990335	98990335	+	Silent	SNP	C	C	T	rs530272604	byFrequency	TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr7:98990335C>T	ENST00000451682.1	+	10	1134	c.825C>T	c.(823-825)gcC>gcT	p.A275A	ARPC1B_ENST00000252725.5_Silent_p.A275A|PDAP1_ENST00000496335.1_5'UTR			O15143	ARC1B_HUMAN	actin related protein 2/3 complex, subunit 1B, 41kDa	275					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)			ATGACGCCGCCGCGGGGATGC	0.697													C|||	4	0.000798722	0.003	0.0	5008	,	,		13061	0.0		0.0	False		,,,				2504	0.0															0													4	5	4					7																	98990335		1777	3378	5155	SO:0001819	synonymous_variant	10095			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.825C>T	chr7.hg19:g.98990335C>T			Q9BU00	Silent	SNP	ENST00000451682.1	hg19	CCDS5661.1																																																																																				0.697	ARPC1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335894.1	NM_005720		T	98990335	C	T	98990335	2	4	782	1	0	0	0	0	0	0	0	1	970	639	23	1		1	ARPC1B	7	98990335	Silent	SNP	C	TCGA-Q2-A5QZ-01A-11D-A28G-10	12413225	98990335	60148328	38	46302											
OPN1SW	611	hgsc.bcm.edu	37	7	128415147	128415147	+	Silent	SNP	C	C	T			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr7:128415147C>T	ENST00000249389.2	-	2	413	c.414G>A	c.(412-414)aaG>aaA	p.K138K		NM_001708.2	NP_001699.1	P03999	OPSB_HUMAN	opsin 1 (cone pigments), short-wave-sensitive	138					phototransduction (GO:0007602)|phototransduction, visible light (GO:0007603)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)|receptor activity (GO:0004872)			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						TGCCGAAGGGCTTACAGATGA	0.547																																																0													96	75	82					7																	128415147		2203	4300	6503	SO:0001819	synonymous_variant	611			U53874	CCDS5806.1	7q31.3-q32	2013-01-08	2008-04-16		ENSG00000128617	ENSG00000128617		"GPCR / Class A : Opsin receptors"	1012	protein-coding gene	gene with protein product	"color blindness, tritan", "blue-sensitive opsin"	613522	"blue cone photoreceptor pigment"	BCP		2937147, 8270261	Standard	NM_001708		Approved	BOP, CBT	uc003vnt.4	P03999	OTTHUMG00000158311	ENST00000249389.2:c.414G>A	chr7.hg19:g.128415147C>T			Q13877	Silent	SNP	ENST00000249389.2	hg19	CCDS5806.1																																																																																				0.547	OPN1SW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350655.1	NM_001708		T	128415147	C	T	128415147	2	4	782	1	0	0	0	0	0	0	0	1	10882	796	28	2		2	OPN1SW	7	128415147	Silent	SNP	C	TCGA-Q2-A5QZ-01A-11D-A28G-10	29424812	128415147	30723516	39	46303											
AGAP3	116988	hgsc.bcm.edu	37	7	150839014	150839014	+	Missense_Mutation	SNP	G	G	A			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr7:150839014G>A	ENST00000463381.1	+	12	1337	c.841G>A	c.(841-843)Gtg>Atg	p.V281M	AGAP3_ENST00000397238.2_Missense_Mutation_p.V612M	NM_001281300.1	NP_001268229.1	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	576	Small GTPase-like.				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						ATTTGTGGTGGTGTCCCTCAC	0.612																																																0													94	112	106					7																	150839014		2150	4240	6390	SO:0001583	missense	116988			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.841G>A	chr7.hg19:g.150839014G>A	ENSP00000418016:p.Val281Met		B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Missense_Mutation	SNP	ENST00000463381.1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.6|24.6	4.553104|4.553104	0.86127|0.86127	.|.	.|.	ENSG00000133612|ENSG00000133612	ENST00000463381;ENST00000397232;ENST00000397238;ENST00000335355|ENST00000461065	T;T|.	0.19394|.	2.15;2.15|.	4.24|4.24	4.24|4.24	0.50183|0.50183	Pleckstrin homology-type (1);Pleckstrin homology domain (3);|.	0.000000|.	0.64402|.	D|.	0.000008|.	T|.	0.74558|.	0.3732|.	M|M	0.75085|0.75085	2.285|2.285	0.80722|0.80722	D|D	1|1	D;D;D;P|.	0.89917|.	1.0;0.999;0.999;0.95|.	D;D;D;P|.	0.97110|.	1.0;0.981;0.964;0.755|.	T|.	0.75977|.	-0.3127|.	10|.	0.72032|.	D|.	0.01|.	.|.	16.1835|16.1835	0.81929|0.81929	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	576;111;612;281|.	Q96P47;E7ETI2;Q96P47-4;B3KNZ8|.	AGAP3_HUMAN;.;.;.|.	M|X	281;111;612;576|104	ENSP00000418016:V281M;ENSP00000380413:V612M|.	ENSP00000334157:V576M|.	V|W	+|+	1|3	0|0	AGAP3|AGAP3	150469947|150469947	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	7.458000|7.458000	0.80787|0.80787	2.346000|2.346000	0.79739|0.79739	0.655000|0.655000	0.94253|0.94253	GTG|TGG		0.612	AGAP3-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000351909.2	NM_031946		A	150839014	G	A	150839014	3	1	782	1	0	0	0	0	1	0	0	0	369	1261	44	2	1955	2	AGAP3	7	150839014	Missense_Mutation	SNP	G	TCGA-Q2-A5QZ-01A-11D-A28G-10	22423867	150839014	8299649	40	46304											
RHEB	6009	hgsc.bcm.edu	37	7	151188050	151188050	+	Missense_Mutation	SNP	A	A	T			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr7:151188050A>T	ENST00000262187.5	-	2	515	c.103T>A	c.(103-105)Tac>Aac	p.Y35N	RHEB_ENST00000496004.1_5'UTR|RHEB_ENST00000472642.1_5'UTR	NM_005614.3	NP_005605.1	Q15382	RHEB_HUMAN	Ras homolog enriched in brain	35					cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)|positive regulation of TOR signaling (GO:0032008)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|spliceosomal complex (GO:0005681)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)	p.Y35N(1)		breast(3)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)	14			OV - Ovarian serous cystadenocarcinoma(82;0.00306)	UCEC - Uterine corpus endometrioid carcinoma (81;0.174)		GTTGGATCGTAGGAGTCCACA	0.358																																					Pancreas(98;671 892 8111 15140 36556 39178 39939 44184)											1	Substitution - Missense(1)	kidney(1)											103	100	101					7																	151188050		2203	4300	6503	SO:0001583	missense	6009			D78132	CCDS5927.1	7q36	2014-05-09	2003-07-14	2003-07-14	ENSG00000106615	ENSG00000106615			10011	protein-coding gene	gene with protein product		601293	"Ras homolog enriched in brain 2"	RHEB2		8661031	Standard	NM_005614		Approved		uc003wkh.1	Q15382	OTTHUMG00000157330	ENST00000262187.5:c.103T>A	chr7.hg19:g.151188050A>T	ENSP00000262187:p.Tyr35Asn		B3KWN6|D3DX13|Q53Y56|Q99444	Missense_Mutation	SNP	ENST00000262187.5	hg19	CCDS5927.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.708820	0.89018	.	.	ENSG00000106615	ENST00000262187	T	0.81247	-1.47	5.42	5.42	0.78866	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.91841	0.7418	M	0.93283	3.4	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93659	0.6980	10	0.87932	D	0	.	13.3975	0.60863	1.0:0.0:0.0:0.0	.	35	Q15382	RHEB_HUMAN	N	35	ENSP00000262187:Y35N	ENSP00000262187:Y35N	Y	-	1	0	RHEB	150818983	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.143000	0.89621	2.051000	0.60960	0.533000	0.62120	TAC		0.358	RHEB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348468.2	NM_005614		T	151188050	A	T	151188050	3	4	782	1	0	0	0	0	1	0	0	0	13334	420	15	5	479	5	RHEB	7	151188050	Missense_Mutation	SNP	A	TCGA-Q2-A5QZ-01A-11D-A28G-10	349036	151188050	7950613	41	46305											
MLL3	58508	hgsc.bcm.edu	37	7	152012386	152012386	+	Frame_Shift_Del	DEL	T	T	-			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr7:152012386delT	ENST00000262189.6	-	4	645	c.427delA	c.(427-429)agtfs	p.S144fs	KMT2C_ENST00000355193.2_Frame_Shift_Del_p.S144fs	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	144					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)										CCTAAGGAACTTTTTTCCCCA	0.378																																																0													136	126	129					7																	152012386		2203	4300	6503	SO:0001589	frameshift_variant	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.427delA	chr7.hg19:g.152012386delT	ENSP00000262189:p.Ser144fs		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Del	DEL	ENST00000262189.6	hg19	CCDS5931.1																																																																																				0.378	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			-	152012386	T	-	152012386	7	5	782	1	0	1	0	1	0	0	0	0	9624	1609	56	0	14532	0	MLL3	7	152012386	Frame_Shift_Del	DEL	T	TCGA-Q2-A5QZ-01A-11D-A28G-10	824336	152012386	7126277	42	46306											
TRAPPC9	83696	hgsc.bcm.edu	37	8	140744445	140744445	+	Splice_Site	SNP	T	T	G			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr8:140744445T>G	ENST00000438773.2	-	22	3189	c.3056A>C	c.(3055-3057)gAt>gCt	p.D1019A	TRAPPC9_ENST00000389328.4_Splice_Site_p.D1117A|TRAPPC9_ENST00000389327.3_Splice_Site_p.D1010A|TRAPPC9_ENST00000522504.1_5'UTR	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	1019					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						CACCAGCACATCTGTAAGGGA	0.677																																																0													13	15	14					8																	140744445		2197	4283	6480	SO:0001630	splice_region_variant	83696			BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"Trafficking protein particle complex"	30832	protein-coding gene	gene with protein product	"TRAPP 120 kDa subunit", "tularik gene 1"	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.3056-1A>C	chr8.hg19:g.140744445T>G			Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Missense_Mutation	SNP	ENST00000438773.2	hg19	CCDS55278.1	.	.	.	.	.	.	.	.	.	.	T	17.56	3.420212	0.62622	.	.	ENSG00000167632	ENST00000389328;ENST00000389327;ENST00000438773	.	.	.	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.64360	0.2591	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.995;0.996	T	0.64241	-0.6454	9	0.39692	T	0.17	.	13.8481	0.63479	0.0:0.0:0.0:1.0	.	1019;1117	Q96Q05;Q96Q05-2	TPPC9_HUMAN;.	A	1117;1010;1019	.	ENSP00000373978:D1010A	D	-	2	0	TRAPPC9	140813627	1.000000	0.71417	0.999000	0.59377	0.853000	0.48598	7.220000	0.78008	1.911000	0.55334	0.533000	0.62120	GAT		0.677	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	NM_031466	Missense_Mutation	G	140744445	T	G	140744445	5	3	782	1	0	0	0	0	0	0	1	0	16470	1449	50	5	398	5	TRAPPC9	8	140744445	Splice_Site	SNP	T	TCGA-Q2-A5QZ-01A-11D-A28G-10		140744445	5619577	43	46307											
FRMPD1	22844	hgsc.bcm.edu	37	9	37745145	37745145	+	Missense_Mutation	SNP	G	G	A			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr9:37745145G>A	ENST00000539465.1	+	16	3709	c.3116G>A	c.(3115-3117)gGa>gAa	p.G1039E	FRMPD1_ENST00000377765.3_Missense_Mutation_p.G1039E|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1039						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GTCTCTCAAGGAGACACACTA	0.488																																																0													75	81	79					9																	37745145		2202	4299	6501	SO:0001583	missense	22844			AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.3116G>A	chr9.hg19:g.37745145G>A	ENSP00000444411:p.Gly1039Glu		B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	hg19	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.702580	0.68501	.	.	ENSG00000070601	ENST00000377765;ENST00000539465	T;T	0.07908	3.15;3.15	5.17	3.32	0.38043	.	3.748350	0.00496	N	0.000156	T	0.08358	0.0208	N	0.24115	0.695	0.80722	D	1	B	0.12630	0.006	B	0.15052	0.012	T	0.17592	-1.0364	10	0.46703	T	0.11	-5.6669	7.1991	0.25871	0.0943:0.1842:0.7215:0.0	.	1039	Q5SYB0	FRPD1_HUMAN	E	1039	ENSP00000366995:G1039E;ENSP00000444411:G1039E	ENSP00000366995:G1039E	G	+	2	0	FRMPD1	37735145	0.009000	0.17119	0.861000	0.33841	0.973000	0.67179	0.191000	0.17076	0.557000	0.29117	0.462000	0.41574	GGA		0.488	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		A	37745145	G	A	37745145	3	1	782	1	0	0	0	0	1	0	0	0	6059	1174	41	2	3174	2	FRMPD1	9	37745145	Missense_Mutation	SNP	G	TCGA-Q2-A5QZ-01A-11D-A28G-10		37745145	103468286	44	46308											
PRKACG	5568	hgsc.bcm.edu	37	9	71628295	71628295	+	Silent	SNP	G	G	A			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr9:71628295G>A	ENST00000377276.2	-	1	744	c.714C>T	c.(712-714)ccC>ccT	p.P238P		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	238	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						CGGCGTAGAAGGGTGGGAAGC	0.597																																					Esophageal Squamous(110;2236 2623 32146)											0													70	68	69					9																	71628295		2203	4300	6503	SO:0001819	synonymous_variant	5568			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.714C>T	chr9.hg19:g.71628295G>A			O60850|Q5VZ02|Q86YI1	Silent	SNP	ENST00000377276.2	hg19	CCDS6625.1																																																																																				0.597	PRKACG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052559.1			A	71628295	G	A	71628295	2	1	782	1	0	0	0	0	0	0	0	1	12504	987	35	2		2	PRKACG	9	71628295	Silent	SNP	G	TCGA-Q2-A5QZ-01A-11D-A28G-10	33883150	71628295	69585136	45	46309											
NIPSNAP3A	25934	hgsc.bcm.edu	37	9	107521616	107521616	+	Missense_Mutation	SNP	A	A	C	rs546236502	byFrequency	TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr9:107521616A>C	ENST00000374767.4	+	6	846	c.741A>C	c.(739-741)aaA>aaC	p.K247N		NM_015469.1	NP_056284.1	Q9UFN0	NPS3A_HUMAN	nipsnap homolog 3A (C. elegans)	247						cytoplasm (GO:0005737)|nucleus (GO:0005634)				autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	8						CACCACTGAAATAGTTTTCTA	0.358																																																0													105	97	100					9																	107521616		2203	4300	6503	SO:0001583	missense	25934			BC005935	CCDS6760.1	9q31.3	2003-11-27			ENSG00000136783	ENSG00000136783			23619	protein-coding gene	gene with protein product		608871				12477932	Standard	NM_015469		Approved	DKFZp564D177, FLJ13953, HSPC299, MGC14553		Q9UFN0	OTTHUMG00000020413	ENST00000374767.4:c.741A>C	chr9.hg19:g.107521616A>C	ENSP00000363899:p.Lys247Asn		A6NM55|Q5VX32|Q9BRV7|Q9H843|Q9P083	Missense_Mutation	SNP	ENST00000374767.4	hg19	CCDS6760.1	.	.	.	.	.	.	.	.	.	.	A	17.18	3.325054	0.60634	.	.	ENSG00000136783	ENST00000374767	T	0.73047	-0.71	3.97	2.82	0.32997	Dimeric alpha-beta barrel (1);	0.047557	0.85682	D	0.000000	T	0.80166	0.4573	M	0.81239	2.535	0.37125	D	0.901004	D	0.76494	0.999	D	0.71656	0.974	T	0.80739	-0.1248	10	0.87932	D	0	.	4.8972	0.13757	0.6882:0.0:0.3118:0.0	.	247	Q9UFN0	NPS3A_HUMAN	N	247	ENSP00000363899:K247N	ENSP00000363899:K247N	K	+	3	2	NIPSNAP3A	106561437	0.997000	0.39634	1.000000	0.80357	0.978000	0.69477	0.441000	0.21611	0.697000	0.31718	0.482000	0.46254	AAA		0.358	NIPSNAP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053484.1	NM_015469		C	107521616	A	C	107521616	3	2	782	1	0	0	0	0	1	0	0	0	10432	98	4	5	763	5	NIPSNAP3A	9	107521616	Missense_Mutation	SNP	A	TCGA-Q2-A5QZ-01A-11D-A28G-10	35893321	107521616	33691815	46	46310											
SVEP1	79987	hgsc.bcm.edu	37	9	113233740	113233740	+	Missense_Mutation	SNP	C	C	A			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr9:113233740C>A	ENST00000401783.2	-	16	3238	c.2902G>T	c.(2902-2904)Gca>Tca	p.A968S	SVEP1_ENST00000374469.1_Missense_Mutation_p.A945S|SVEP1_ENST00000302728.8_Missense_Mutation_p.A968S|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	968					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						ATTTCTGATGCAAGCTGAAAG	0.428																																																0													122	112	115					9																	113233740		1855	4107	5962	SO:0001583	missense	79987			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.2902G>T	chr9.hg19:g.113233740C>A	ENSP00000384917:p.Ala968Ser		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	hg19	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	C	7.630	0.678635	0.14841	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728	T;T;T	0.78246	-1.01;-1.02;-1.16	5.49	5.49	0.81192	.	0.158375	0.56097	D	0.000024	T	0.56834	0.2012	N	0.08118	0	0.27524	N	0.951309	B;B	0.17268	0.021;0.012	B;B	0.15052	0.012;0.012	T	0.37033	-0.9723	10	0.10902	T	0.67	.	12.9639	0.58473	0.283:0.717:0.0:0.0	.	968;968	E9PBN8;Q4LDE5	.;SVEP1_HUMAN	S	968;945;968	ENSP00000384917:A968S;ENSP00000363593:A945S;ENSP00000304118:A968S	ENSP00000304118:A968S	A	-	1	0	SVEP1	112273561	1.000000	0.71417	0.854000	0.33618	0.607000	0.37147	2.741000	0.47426	2.583000	0.87209	0.650000	0.86243	GCA		0.428	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				A	113233740	C	A	113233740	3	1	782	1	0	0	0	0	1	0	0	0	15425	710	25	4	7945	4	SVEP1	9	113233740	Missense_Mutation	SNP	C	TCGA-Q2-A5QZ-01A-11D-A28G-10	5712124	113233740	27979691	47	46311											
CIZ1	25792	hgsc.bcm.edu	37	9	130947865	130947865	+	Frame_Shift_Del	DEL	T	T	-			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr9:130947865delT	ENST00000393608.1	-	5	751	c.549delA	c.(547-549)aaafs	p.K183fs	CIZ1_ENST00000538431.1_Frame_Shift_Del_p.K183fs|CIZ1_ENST00000372938.5_Frame_Shift_Del_p.K183fs|CIZ1_ENST00000325721.8_Frame_Shift_Del_p.K159fs|CIZ1_ENST00000357558.5_Frame_Shift_Del_p.K183fs|CIZ1_ENST00000372948.3_Frame_Shift_Del_p.K183fs|CIZ1_ENST00000372954.1_Frame_Shift_Del_p.K159fs|CIZ1_ENST00000277465.4_Frame_Shift_Del_p.K183fs|CIZ1_ENST00000541172.1_Frame_Shift_Del_p.K82fs|CIZ1_ENST00000476727.2_5'UTR	NM_012127.2	NP_036259.2	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	183					maintenance of protein location in nucleus (GO:0051457)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						TCCGGGCCTGTTTCTGGGGGT	0.637																																																0													67	68	68					9																	130947865		2203	4300	6503	SO:0001589	frameshift_variant	25792			AB030835	CCDS6894.1, CCDS48033.1, CCDS48034.1, CCDS75910.1	9q34.1	2012-10-05			ENSG00000148337	ENSG00000148337			16744	protein-coding gene	gene with protein product		611420				10529385	Standard	NM_001131015		Approved	LSFR1, ZNF356	uc011mas.2	Q9ULV3	OTTHUMG00000020735	ENST00000393608.1:c.549delA	chr9.hg19:g.130947865delT	ENSP00000377232:p.Lys183fs		A8K9J8|B4E131|B7ZAS8|Q5SYW3|Q5SYW5|Q8WU72|Q9H868|Q9NYM8|Q9UHK4|Q9Y3F9|Q9Y3G0	Frame_Shift_Del	DEL	ENST00000393608.1	hg19	CCDS6894.1																																																																																				0.637	CIZ1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054399.1	NM_012127		-	130947865	T	-	130947865	7	5	782	1	0	1	0	1	0	0	0	0	3443	1722	60	0	2199	0	CIZ1	9	130947865	Frame_Shift_Del	DEL	T	TCGA-Q2-A5QZ-01A-11D-A28G-10	17714125	130947865	10265566	48	46312											
SDCCAG3	10807	hgsc.bcm.edu	37	9	139302279	139302279	+	Splice_Site	SNP	T	T	G			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr9:139302279T>G	ENST00000357365.3	-	4	530	c.401A>C	c.(400-402)aAg>aCg	p.K134T	SDCCAG3_ENST00000298537.7_Splice_Site_p.K111T|PMPCA_ENST00000371720.1_5'Flank|SDCCAG3_ENST00000371725.3_Splice_Site_p.K61T|PMPCA_ENST00000399219.3_5'Flank|SDCCAG3_ENST00000461693.1_5'Flank|PMPCA_ENST00000371717.3_5'Flank	NM_001039707.1	NP_001034796.1	Q96C92	SDCG3_HUMAN	serologically defined colon cancer antigen 3	134						cytoplasm (GO:0005737)				NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)		TGGATTTACCTTTGCATAAAT	0.522																																																0													117	127	124					9																	139302279		1996	4158	6154	SO:0001630	splice_region_variant	10807			AF039688	CCDS6999.2, CCDS43903.1, CCDS43904.1	9q34.3	2010-10-27			ENSG00000165689	ENSG00000165689			10667	protein-coding gene	gene with protein product						9610721	Standard	XM_005266050		Approved	NY-CO-3	uc004chi.3	Q96C92	OTTHUMG00000020928	ENST00000357365.3:c.402+1A>C	chr9.hg19:g.139302279T>G			A6NCP1|O60525|Q5SXN1|Q5SXN2|Q5SXN3|Q5SXN4|Q5SXN8|Q6V704|Q9NVY5	Missense_Mutation	SNP	ENST00000357365.3	hg19	CCDS43904.1	.	.	.	.	.	.	.	.	.	.	T	14.76	2.632253	0.46944	.	.	ENSG00000165689	ENST00000357365;ENST00000298537;ENST00000371725;ENST00000371723	T;T;T;T	0.39406	2.24;2.31;2.29;1.08	5.34	5.34	0.76211	.	0.221148	0.38837	N	0.001555	T	0.58366	0.2117	M	0.63843	1.955	0.42845	D	0.994066	D;D;D	0.76494	0.99;0.997;0.999	P;D;D	0.68353	0.864;0.928;0.957	T	0.59627	-0.7419	10	0.45353	T	0.12	-23.4229	11.7031	0.51581	0.0:0.0:0.0:1.0	.	61;111;134	Q96C92-4;Q96C92-2;Q96C92	.;.;SDCG3_HUMAN	T	134;111;61;84	ENSP00000349929:K134T;ENSP00000298537:K111T;ENSP00000360790:K61T;ENSP00000360788:K84T	ENSP00000298537:K111T	K	-	2	0	SDCCAG3	138422100	1.000000	0.71417	0.628000	0.29241	0.117000	0.20001	4.054000	0.57434	2.012000	0.59069	0.528000	0.53228	AAG		0.522	SDCCAG3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055060.2	NM_006643	Missense_Mutation	G	139302279	T	G	139302279	5	3	782	1	0	0	0	0	0	0	1	0	13964	1623	56	5	934	5	SDCCAG3	9	139302279	Splice_Site	SNP	T	TCGA-Q2-A5QZ-01A-11D-A28G-10	8354414	139302279	1911152	49	46313											
CUL2	8453	hgsc.bcm.edu	37	10	35360197	35360197	+	Missense_Mutation	SNP	G	G	C			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr10:35360197G>C	ENST00000374748.1	-	3	362	c.49C>G	c.(49-51)Ctt>Gtt	p.L17V	CUL2_ENST00000602371.1_5'UTR|CUL2_ENST00000374742.1_Missense_Mutation_p.L17V|CUL2_ENST00000478044.1_5'UTR|CUL2_ENST00000374749.3_Missense_Mutation_p.L17V|CUL2_ENST00000374751.3_Missense_Mutation_p.L17V|CUL2_ENST00000537177.1_Missense_Mutation_p.L36V|CUL2_ENST00000374746.1_Missense_Mutation_p.L17V			Q13617	CUL2_HUMAN	cullin 2	17					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						GTCGTCAAAAGTTTGTTCCAT	0.358																																																0													148	122	131					10																	35360197		2203	4300	6503	SO:0001583	missense	8453			U83410	CCDS7179.1, CCDS73086.1	10p11.2	2011-05-24			ENSG00000108094	ENSG00000108094			2552	protein-coding gene	gene with protein product		603135				8681378	Standard	NM_003591		Approved		uc021ppa.1	Q13617	OTTHUMG00000017950	ENST00000374748.1:c.49C>G	chr10.hg19:g.35360197G>C	ENSP00000363880:p.Leu17Val		B3KT95|B7Z6K8|D3DRY6|G3V1S2|O00200|Q5T2B6|Q9UNF9	Missense_Mutation	SNP	ENST00000374748.1	hg19	CCDS7179.1	.	.	.	.	.	.	.	.	.	.	G	18.26	3.585575	0.66105	.	.	ENSG00000108094	ENST00000374751;ENST00000374748;ENST00000374746;ENST00000374749;ENST00000374742;ENST00000537177;ENST00000421317	T;T;T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54;0.54;0.54	5.92	4.06	0.47325	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.058793	0.64402	N	0.000001	T	0.65491	0.2696	L	0.58101	1.795	0.80722	D	1	D;D;D	0.71674	0.998;0.997;0.998	D;P;D	0.66497	0.944;0.875;0.923	T	0.67150	-0.5743	10	0.87932	D	0	-7.8946	11.7589	0.51890	0.0663:0.1241:0.8097:0.0	.	17;36;17	Q5T2B5;G3V1S2;Q13617	.;.;CUL2_HUMAN	V	17;17;17;17;17;36;17	ENSP00000363883:L17V;ENSP00000363880:L17V;ENSP00000363878:L17V;ENSP00000363881:L17V;ENSP00000363874:L17V;ENSP00000444856:L36V;ENSP00000414095:L17V	ENSP00000363874:L17V	L	-	1	0	CUL2	35400203	1.000000	0.71417	0.282000	0.24776	0.833000	0.47200	6.391000	0.73208	0.824000	0.34613	0.655000	0.94253	CTT		0.358	CUL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047538.1	NM_003591		C	35360197	G	C	35360197	3	2	782	1	0	0	0	0	1	0	0	0	4057	1029	36	4	2268	4	CUL2	10	35360197	Missense_Mutation	SNP	G	TCGA-Q2-A5QZ-01A-11D-A28G-10		35360197	100174550	50	46314											
TET1	80312	hgsc.bcm.edu	37	10	70404893	70404893	+	Missense_Mutation	SNP	G	G	T			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr10:70404893G>T	ENST00000373644.4	+	4	2616	c.2407G>T	c.(2407-2409)Gct>Tct	p.A803S		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	803					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)	p.A803T(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CCATAAAAACGCTATGAGCTC	0.353																																																1	Substitution - Missense(1)	endometrium(1)											100	100	100					10																	70404893		2203	4300	6503	SO:0001583	missense	80312			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"leukemia-associated protein with a CXXC domain", "ten-eleven translocation-1"	607790	"CXXC zinc finger 6", "tet oncogene 1"	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.2407G>T	chr10.hg19:g.70404893G>T	ENSP00000362748:p.Ala803Ser		Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	hg19	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	G	14.69	2.609899	0.46527	.	.	ENSG00000138336	ENST00000373644	T	0.08458	3.09	5.92	4.93	0.64822	.	0.759080	0.12137	N	0.496237	T	0.05318	0.0141	L	0.27053	0.805	0.27338	N	0.956599	P	0.44429	0.835	B	0.38056	0.264	T	0.21449	-1.0245	10	0.24483	T	0.36	.	4.6605	0.12639	0.2192:0.0:0.7808:0.0	.	803	Q8NFU7	TET1_HUMAN	S	803	ENSP00000362748:A803S	ENSP00000362748:A803S	A	+	1	0	TET1	70074899	1.000000	0.71417	1.000000	0.80357	0.721000	0.41392	1.045000	0.30341	2.822000	0.97130	0.650000	0.86243	GCT		0.353	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		T	70404893	G	T	70404893	3	4	782	1	0	0	0	0	1	0	0	0	15774	1087	38	4	2417	4	TET1	10	70404893	Missense_Mutation	SNP	G	TCGA-Q2-A5QZ-01A-11D-A28G-10	35044696	70404893	65129854	51	46315											
C10orf129	142827	hgsc.bcm.edu	37	10	96967018	96967018	+	Missense_Mutation	SNP	C	C	A			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr10:96967018C>A	ENST00000394005.3	+	3	466	c.457C>A	c.(457-459)Caa>Aaa	p.Q153K	C10orf129_ENST00000341686.3_Missense_Mutation_p.Q153K|C10orf129_ENST00000430183.1_5'UTR			Q6P461	ACSM6_HUMAN		153					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)|kidney(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		AATTCGCTATCAATTACGCAT	0.468																																																0													82	76	78					10																	96967018		2203	4300	6503	SO:0001583	missense	142827																														ENST00000394005.3:c.457C>A	chr10.hg19:g.96967018C>A	ENSP00000377573:p.Gln153Lys		A4FU95|A4IF38|Q5VZX2|Q6ZTX1	Missense_Mutation	SNP	ENST00000394005.3	hg19	CCDS7440.2	.	.	.	.	.	.	.	.	.	.	C	6.282	0.420077	0.11928	.	.	ENSG00000173124	ENST00000539707;ENST00000341686;ENST00000394005	T;T	0.41065	1.01;1.01	1.2	0.259	0.15583	AMP-dependent synthetase/ligase (1);	.	.	.	.	T	0.23249	0.0562	N	0.14661	0.345	0.09310	N	0.999999	B	0.02656	0.0	B	0.09377	0.004	T	0.21586	-1.0241	9	0.87932	D	0	.	5.4913	0.16777	0.0:0.7911:0.0:0.2089	.	153	Q6P461	ACSM6_HUMAN	K	179;153;153	ENSP00000340296:Q153K;ENSP00000377573:Q153K	ENSP00000340296:Q153K	Q	+	1	0	C10orf129	96957008	0.001000	0.12720	0.001000	0.08648	0.002000	0.02628	-1.319000	0.02702	0.134000	0.18681	0.579000	0.79373	CAA		0.468	C10orf129-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049506.2			A	96967018	C	A	96967018	3	1	782	1	0	0	0	0	1	0	0	0	1595	827	29	4	467	4	C10orf129	10	96967018	Missense_Mutation	SNP	C	TCGA-Q2-A5QZ-01A-11D-A28G-10	26562125	96967018	38567729	52	46316											
PDZD7	79955	hgsc.bcm.edu	37	10	102783355	102783355	+	Missense_Mutation	SNP	A	A	G			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr10:102783355A>G	ENST00000370215.3	-	4	605	c.380T>C	c.(379-381)cTg>cCg	p.L127P	PDZD7_ENST00000470414.1_Missense_Mutation_p.L127P	NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	127	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.					cilium (GO:0005929)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		CCCCACGCACAGGCCAGCCCG	0.657																																																0													62	54	57					10																	102783355		2203	4300	6503	SO:0001583	missense	79955			AK026862	CCDS31269.1, CCDS73182.1	10q24.32	2006-01-24		2006-01-24	ENSG00000186862	ENSG00000186862			26257	protein-coding gene	gene with protein product		612971		PDZK7		12477932	Standard	NM_024895		Approved	FLJ23209, bA108L7.8	uc021pxc.1	Q9H5P4	OTTHUMG00000018916	ENST00000370215.3:c.380T>C	chr10.hg19:g.102783355A>G	ENSP00000359234:p.Leu127Pro		D5FJ77|Q8N321	Missense_Mutation	SNP	ENST00000370215.3	hg19	CCDS31269.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.403886	0.83230	.	.	ENSG00000186862	ENST00000393462;ENST00000370215	T	0.50548	0.74	5.05	5.05	0.67936	PDZ/DHR/GLGF (4);	0.000000	0.64402	D	0.000001	T	0.79581	0.4470	H	0.97315	3.98	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.961	D	0.87162	0.2215	10	0.87932	D	0	.	14.7786	0.69749	1.0:0.0:0.0:0.0	.	127;127	Q9H5P4;Q9H5P4-2	PDZD7_HUMAN;.	P	127	ENSP00000359234:L127P	ENSP00000359234:L127P	L	-	2	0	PDZD7	102773345	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.224000	0.95209	1.893000	0.54813	0.459000	0.35465	CTG		0.657	PDZD7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049883.1	NM_024895		G	102783355	A	G	102783355	3	3	782	1	0	0	0	0	1	0	0	0	11706	188	7	3	1201	3	PDZD7	10	102783355	Missense_Mutation	SNP	A	TCGA-Q2-A5QZ-01A-11D-A28G-10	5816337	102783355	32751392	53	46317											
MUC2	4583	hgsc.bcm.edu	37	11	1078339	1078339	+	Missense_Mutation	SNP	C	C	T			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr11:1078339C>T	ENST00000441003.2	+	5	653	c.626C>T	c.(625-627)cCc>cTc	p.P209L	MUC2_ENST00000359061.5_Missense_Mutation_p.P209L	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	209	VWFD 1. {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)	TGTGAGGATCCCGAGGAGGAG	0.642																																																0													76	90	86					11																	1078339		2086	4194	6280	SO:0001583	missense	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.626C>T	chr11.hg19:g.1078339C>T	ENSP00000415183:p.Pro209Leu		Q14878	Missense_Mutation	SNP	ENST00000441003.2	hg19		.	.	.	.	.	.	.	.	.	.	C	12.34	1.909914	0.33721	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.14766	2.54;2.48	4.08	4.08	0.47627	.	0.567974	0.14666	U	0.305646	T	0.21881	0.0527	L	0.53729	1.69	0.45554	D	0.998508	P	0.37525	0.598	B	0.43386	0.418	T	0.04454	-1.0950	10	0.48119	T	0.1	.	16.2743	0.82636	0.0:1.0:0.0:0.0	.	209	E7EUV1	.	L	209	ENSP00000415183:P209L;ENSP00000351956:P209L	ENSP00000351956:P209L	P	+	2	0	MUC2	1068339	0.995000	0.38212	0.394000	0.26270	0.046000	0.14306	2.838000	0.48199	1.818000	0.53035	0.561000	0.74099	CCC		0.642	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		T	1078339	C	T	1078339	3	4	782	1	0	0	0	0	1	0	0	0	9977	623	22	2	644	2	MUC2	11	1078339	Missense_Mutation	SNP	C	TCGA-Q2-A5QZ-01A-11D-A28G-10		1078339	133928177	54	46318											
OR10A2	341276	hgsc.bcm.edu	37	11	6891503	6891503	+	Missense_Mutation	SNP	G	G	A			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr11:6891503G>A	ENST00000307322.4	+	1	580	c.518G>A	c.(517-519)aGg>aAg	p.R173K		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	173				R -> K (in Ref. 4; AAK95109). {ECO:0000305}.		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(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCTGTGCTGAGGCTGGTCTGT	0.507																																																0													191	158	169					11																	6891503		2201	4296	6497	SO:0001583	missense	341276			BK004293	CCDS31415.1	11p15.4	2012-08-09		2004-03-10	ENSG00000170790	ENSG00000170790		"GPCR / Class A : Olfactory receptors"	8161	protein-coding gene	gene with protein product				OR10A2P			Standard	NM_001004460		Approved	OST363	uc001meu.1	Q9H208	OTTHUMG00000165739	ENST00000307322.4:c.518G>A	chr11.hg19:g.6891503G>A	ENSP00000303862:p.Arg173Lys		B2RNL9|Q6IFG9	Missense_Mutation	SNP	ENST00000307322.4	hg19	CCDS31415.1	.	.	.	.	.	.	.	.	.	.	g	0.888	-0.726545	0.03158	.	.	ENSG00000170790	ENST00000307322	T	0.00016	9.13	4.14	-2.4	0.06583	GPCR, rhodopsin-like superfamily (1);	0.386873	0.25280	N	0.031805	T	0.00039	0.0001	N	0.00815	-1.16	0.22620	N	0.998928	B	0.02656	0.0	B	0.04013	0.001	T	0.40040	-0.9584	10	0.02654	T	1	.	9.7558	0.40502	0.6387:0.0:0.3613:0.0	.	173	Q9H208	O10A2_HUMAN	K	173	ENSP00000303862:R173K	ENSP00000303862:R173K	R	+	2	0	OR10A2	6848079	0.000000	0.05858	0.986000	0.45419	0.922000	0.55478	-0.974000	0.03794	-0.362000	0.08113	-0.201000	0.12746	AGG		0.507	OR10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385984.1	NM_001004460		A	6891503	G	A	6891503	3	1	782	1	0	0	0	0	1	0	0	0	10892	1000	35	2	520	2	OR10A2	11	6891503	Missense_Mutation	SNP	G	TCGA-Q2-A5QZ-01A-11D-A28G-10	5813164	6891503	128115013	55	46319											
PDE3B	5140	hgsc.bcm.edu	37	11	14666027	14666027	+	Missense_Mutation	SNP	C	C	G	rs373522381	byFrequency	TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr11:14666027C>G	ENST00000282096.4	+	1	759	c.406C>G	c.(406-408)Ctc>Gtc	p.L136V	PSMA1_ENST00000418988.2_5'Flank|PDE3B_ENST00000534317.1_3'UTR|PDE3B_ENST00000455098.2_Missense_Mutation_p.L136V	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	136					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of lipid catabolic process (GO:0050995)|regulation of insulin secretion (GO:0050796)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)|protein kinase B binding (GO:0043422)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39					Caffeine(DB00201)	CACCTGCTTCCTCACCCGGAC	0.692													C|||	2	0.000399361	0.0015	0.0	5008	,	,		14055	0.0		0.0	False		,,,				2504	0.0															0													29	32	31					11																	14666027		2199	4294	6493	SO:0001583	missense	5140			U38178	CCDS7817.1	11p15.2	2008-03-18			ENSG00000152270	ENSG00000152270	3.1.4.17	"Phosphodiesterases"	8779	protein-coding gene	gene with protein product		602047				8884271, 16395595	Standard	NM_000922		Approved	HcGIP1	uc001mln.3	Q13370	OTTHUMG00000165898	ENST00000282096.4:c.406C>G	chr11.hg19:g.14666027C>G	ENSP00000282096:p.Leu136Val		B7ZM37|O00639|Q14408|Q6SEI4	Missense_Mutation	SNP	ENST00000282096.4	hg19	CCDS7817.1	.	.	.	.	.	.	.	.	.	.	C	16.61	3.170982	0.57584	.	.	ENSG00000152270	ENST00000282096;ENST00000455098	T;T	0.74842	-0.72;-0.88	3.78	0.801	0.18679	.	8.111930	0.00166	N	0.000000	T	0.73953	0.3653	L	0.40543	1.245	0.31630	N	0.649153	P;P;P	0.52842	0.884;0.884;0.956	B;B;P	0.50659	0.358;0.358;0.647	T	0.62058	-0.6934	10	0.45353	T	0.12	.	6.7026	0.23232	0.0:0.5775:0.0:0.4225	.	136;136;136	B7ZM37;Q13370;A7E2E5	.;PDE3B_HUMAN;.	V	136	ENSP00000282096:L136V;ENSP00000388644:L136V	ENSP00000282096:L136V	L	+	1	0	PDE3B	14622603	1.000000	0.71417	0.998000	0.56505	0.834000	0.47266	1.686000	0.37669	0.130000	0.18549	0.313000	0.20887	CTC		0.692	PDE3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386974.1	NM_000922		G	14666027	C	G	14666027	3	3	782	1	0	0	0	0	1	0	0	0	11640	681	24	4	408	4	PDE3B	11	14666027	Missense_Mutation	SNP	C	TCGA-Q2-A5QZ-01A-11D-A28G-10	7774524	14666027	120340489	56	46320											
OR4X1	390113	hgsc.bcm.edu	37	11	48285602	48285602	+	Missense_Mutation	SNP	T	T	G			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr11:48285602T>G	ENST00000320048.1	+	1	190	c.190T>G	c.(190-192)Tta>Gta	p.L64V		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	64						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						TCTCAGCTACTTATCCTTTGT	0.493																																																0													148	135	139					11																	48285602		2201	4298	6499	SO:0001583	missense	390113			AB065544	CCDS31487.1	11p11.2	2013-10-10	2013-10-10		ENSG00000176567	ENSG00000176567		"GPCR / Class A : Olfactory receptors"	14854	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily X, member 1"				Standard	NM_001004726		Approved		uc010rht.2	Q8NH49	OTTHUMG00000165301	ENST00000320048.1:c.190T>G	chr11.hg19:g.48285602T>G	ENSP00000321506:p.Leu64Val		Q6IF74	Missense_Mutation	SNP	ENST00000320048.1	hg19	CCDS31487.1	.	.	.	.	.	.	.	.	.	.	T	10.30	1.313474	0.23908	.	.	ENSG00000176567	ENST00000320048	T	0.00507	6.92	4.29	-3.51	0.04696	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01976	0.0062	H	0.97540	4.025	0.20403	N	0.999903	D	0.57571	0.98	P	0.56960	0.81	T	0.01084	-1.1457	9	0.87932	D	0	.	8.1735	0.31268	0.0:0.4875:0.1294:0.3831	.	64	Q8NH49	OR4X1_HUMAN	V	64	ENSP00000321506:L64V	ENSP00000321506:L64V	L	+	1	2	OR4X1	48242178	0.000000	0.05858	0.901000	0.35422	0.022000	0.10575	-2.554000	0.00926	-1.009000	0.03400	-2.821000	0.00108	TTA		0.493	OR4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383373.1	NM_001004726		G	48285602	T	G	48285602	3	3	782	1	0	0	0	0	1	0	0	0	11086	1606	56	5	192	5	OR4X1	11	48285602	Missense_Mutation	SNP	T	TCGA-Q2-A5QZ-01A-11D-A28G-10	33619575	48285602	86720914	57	46321											
MLL	4297	hgsc.bcm.edu	37	11	118373932	118373932	+	Missense_Mutation	SNP	A	A	C			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr11:118373932A>C	ENST00000389506.5	+	27	7316	c.7316A>C	c.(7315-7317)gAa>gCa	p.E2439A	KMT2A_ENST00000534358.1_Missense_Mutation_p.E2442A|KMT2A_ENST00000354520.4_Missense_Mutation_p.E2401A			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	2439					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)										ACTTTCAAAGAAAAGCATTCC	0.403																																																0													62	65	64					11																	118373932		2199	4296	6495	SO:0001583	missense	4297			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.7316A>C	chr11.hg19:g.118373932A>C	ENSP00000374157:p.Glu2439Ala		E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	hg19	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	A	11.96	1.794138	0.31777	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.83591	-1.74;-1.74;-1.71	5.85	5.85	0.93711	.	0.109676	0.64402	D	0.000008	T	0.70064	0.3181	N	0.19112	0.55	0.49915	D	0.999833	P;P	0.49090	0.919;0.919	B;B	0.33339	0.162;0.162	T	0.76889	-0.2792	10	0.72032	D	0.01	.	16.2303	0.82332	1.0:0.0:0.0:0.0	.	2442;2439	E9PQG7;Q03164	.;MLL1_HUMAN	A	2442;2439;2401;1349	ENSP00000436786:E2442A;ENSP00000374157:E2439A;ENSP00000346516:E2401A	ENSP00000346516:E2401A	E	+	2	0	MLL	117879142	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.414000	0.73318	2.233000	0.73108	0.533000	0.62120	GAA		0.403	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		C	118373932	A	C	118373932	3	2	782	1	0	0	0	0	1	0	0	0	9622	246	9	5	7422	5	MLL	11	118373932	Missense_Mutation	SNP	A	TCGA-Q2-A5QZ-01A-11D-A28G-10	70088330	118373932	16632584	58	46322											
SCNN1A	6337	hgsc.bcm.edu	37	12	6457064	6457064	+	Missense_Mutation	SNP	G	G	A			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr12:6457064G>A	ENST00000228916.2	-	13	2083	c.1985C>T	c.(1984-1986)tCc>tTc	p.S662F	SCNN1A_ENST00000543768.1_Missense_Mutation_p.S685F|SCNN1A_ENST00000360168.3_Missense_Mutation_p.S721F|SCNN1A_ENST00000540037.1_Missense_Mutation_p.S362F|SCNN1A_ENST00000396966.2_3'UTR|SCNN1A_ENST00000358945.3_Missense_Mutation_p.S684F	NM_001038.5	NP_001029.1	P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	662					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)	AGGACAGGTGGAGGAACTGGC	0.672																																																0													7	8	7					12																	6457064		2098	4115	6213	SO:0001583	missense	6337			Z92978	CCDS8543.1, CCDS53738.1, CCDS53739.1	12p13	2012-02-28	2012-02-28		ENSG00000111319	ENSG00000111319		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10599	protein-coding gene	gene with protein product		600228	"sodium channel, nonvoltage-gated 1 alpha", "sodium channel, non-voltage-gated 1 alpha"	SCNN1		7896277	Standard	NM_001038		Approved	ENaCalpha	uc001qnw.3	P37088	OTTHUMG00000168268	ENST00000228916.2:c.1985C>T	chr12.hg19:g.6457064G>A	ENSP00000228916:p.Ser662Phe		A5X2U9|B4E2Q5|C5HTZ0|O43271|Q6GSQ6|Q9UM64	Missense_Mutation	SNP	ENST00000228916.2	hg19	CCDS8543.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.383587	0.42207	.	.	ENSG00000111319	ENST00000360168;ENST00000358945;ENST00000540037;ENST00000228916;ENST00000543768	T;T;T;T;T	0.73258	-0.73;-0.69;-0.44;-0.63;-0.67	3.95	1.82	0.25136	.	1.972990	0.02819	N	0.125281	T	0.70090	0.3184	M	0.63428	1.95	0.09310	N	1	B;B;B	0.32693	0.38;0.38;0.226	B;B;B	0.29267	0.085;0.085;0.1	T	0.60627	-0.7226	10	0.72032	D	0.01	-0.3348	11.2996	0.49298	0.0:0.3534:0.6466:0.0	.	685;662;721	B4E2Q5;P37088;P37088-2	.;SCNNA_HUMAN;.	F	721;684;362;662;685	ENSP00000353292:S721F;ENSP00000351825:S684F;ENSP00000440876:S362F;ENSP00000228916:S662F;ENSP00000438739:S685F	ENSP00000228916:S662F	S	-	2	0	SCNN1A	6327325	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.471000	0.22100	0.933000	0.37291	0.555000	0.69702	TCC		0.672	SCNN1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399055.1			A	6457064	G	A	6457064	3	1	782	1	0	0	0	0	1	0	0	0	13933	1174	41	2	28	2	SCNN1A	12	6457064	Missense_Mutation	SNP	G	TCGA-Q2-A5QZ-01A-11D-A28G-10		6457064	127394831	59	46323											
KLRK1	22914	hgsc.bcm.edu	37	12	10539523	10539523	+	Missense_Mutation	SNP	T	T	C			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr12:10539523T>C	ENST00000240618.6	-	3	267	c.127A>G	c.(127-129)Aaa>Gaa	p.K43E	KLRC4-KLRK1_ENST00000539300.1_3'UTR|RP11-277P12.20_ENST00000500682.1_RNA|KLRK1_ENST00000540818.1_Missense_Mutation_p.K43E	NM_001199805.1|NM_007360.3	NP_001186734.1|NP_031386.2	P26718	NKG2D_HUMAN	killer cell lectin-like receptor subfamily K, member 1	43					cell differentiation (GO:0030154)|innate immune response (GO:0045087)|natural killer cell activation (GO:0030101)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)	9						CATTTGCTTTTGACTACTGGA	0.323																																																0													207	186	193					12																	10539523		2203	4298	6501	SO:0001583	missense	0			AJ001687	CCDS8623.1	12p13.2-p12.3	2010-02-17	2003-02-19		ENSG00000213809	ENSG00000213809		"Killer cell lectin-like receptors", "CD molecules"	18788	protein-coding gene	gene with protein product		611817	"DNA segment on chromosome 12 (unique) 2489 expressed sequence"	D12S2489E		9683661, 2007850	Standard	NM_007360		Approved	NKG2D, KLR, NKG2-D, CD314	uc009zhj.3	P26718	OTTHUMG00000168574	ENST00000240618.6:c.127A>G	chr12.hg19:g.10539523T>C	ENSP00000240618:p.Lys43Glu		A8K7K5|A8K7P4|Q9NR41	Missense_Mutation	SNP	ENST00000240618.6	hg19	CCDS8623.1	.	.	.	.	.	.	.	.	.	.	T	10.78	1.445773	0.25987	.	.	ENSG00000213809	ENST00000240618;ENST00000540818	T;T	0.01474	4.85;4.85	4.24	1.81	0.25067	.	0.304503	0.23859	N	0.043877	T	0.01661	0.0053	L	0.36672	1.1	0.09310	N	1	B;B;B	0.26775	0.056;0.159;0.081	B;B;B	0.29524	0.029;0.103;0.028	T	0.46527	-0.9185	10	0.34782	T	0.22	.	4.666	0.12666	0.1788:0.0:0.2431:0.5781	.	43;24;43	Q8WZ67;Q1HEA1;P26718	.;.;NKG2D_HUMAN	E	43	ENSP00000240618:K43E;ENSP00000446003:K43E	ENSP00000240618:K43E	K	-	1	0	KLRK1	10430790	0.005000	0.15991	0.001000	0.08648	0.025000	0.11179	0.895000	0.28363	0.250000	0.21479	0.455000	0.32223	AAA		0.323	KLRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400269.1	NM_007360		C	10539523	T	C	10539523	3	2	782	1	0	0	0	0	1	0	0	0	8425	1821	63	3	547	3	KLRK1	12	10539523	Missense_Mutation	SNP	T	TCGA-Q2-A5QZ-01A-11D-A28G-10	4082459	10539523	123312372	60	46324											
PTPRO	5800	hgsc.bcm.edu	37	12	15673198	15673198	+	Missense_Mutation	SNP	G	G	A			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr12:15673198G>A	ENST00000281171.4	+	10	2173	c.1843G>A	c.(1843-1845)Gat>Aat	p.D615N	PTPRO_ENST00000348962.2_Missense_Mutation_p.D615N	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	615	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				GACGTGGGGAGATCCAGAATT	0.478																																																0													138	124	129					12																	15673198		2203	4300	6503	SO:0001583	missense	5800			U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9678	protein-coding gene	gene with protein product	"osteoclastic transmembrane protein-tyrosine phosphatase"	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.1843G>A	chr12.hg19:g.15673198G>A	ENSP00000281171:p.Asp615Asn		A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	ENST00000281171.4	hg19	CCDS8675.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.956744	0.92726	.	.	ENSG00000151490	ENST00000281171;ENST00000348962	T;T	0.53640	3.8;0.61	5.2	5.2	0.72013	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.249218	0.27922	N	0.017316	T	0.41558	0.1164	N	0.19112	0.55	0.80722	D	1	P;P	0.41188	0.741;0.624	B;B	0.43658	0.426;0.245	T	0.44952	-0.9294	10	0.72032	D	0.01	.	17.0929	0.86627	0.0:0.0:1.0:0.0	.	615;615	Q16827-2;Q16827	.;PTPRO_HUMAN	N	615	ENSP00000281171:D615N;ENSP00000343434:D615N	ENSP00000281171:D615N	D	+	1	0	PTPRO	15564465	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.851000	0.92205	2.689000	0.91719	0.655000	0.94253	GAT		0.478	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			A	15673198	G	A	15673198	3	1	782	1	0	0	0	0	1	0	0	0	12815	942	33	2	1881	2	PTPRO	12	15673198	Missense_Mutation	SNP	G	TCGA-Q2-A5QZ-01A-11D-A28G-10	5133675	15673198	118178697	61	46325											
DDN	23109	hgsc.bcm.edu	37	12	49391677	49391677	+	Missense_Mutation	SNP	C	C	T			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr12:49391677C>T	ENST00000421952.2	-	2	1003	c.982G>A	c.(982-984)Ggt>Agt	p.G328S	RP11-386G11.3_ENST00000549516.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	328						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						CTGTCGCTACCACTGTTCAGG	0.677																																																0													46	53	51					12																	49391677		2203	4299	6502	SO:0001583	missense	23109			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.982G>A	chr12.hg19:g.49391677C>T	ENSP00000390590:p.Gly328Ser			Missense_Mutation	SNP	ENST00000421952.2	hg19	CCDS31791.2	.	.	.	.	.	.	.	.	.	.	C	18.60	3.658359	0.67586	.	.	ENSG00000181418	ENST00000421952	T	0.44881	0.91	3.88	2.05	0.26809	.	0.148751	0.31601	N	0.007378	T	0.21387	0.0515	N	0.24115	0.695	0.09310	N	1	P	0.40909	0.732	B	0.31191	0.125	T	0.10776	-1.0615	10	0.42905	T	0.14	-3.234	7.9639	0.30087	0.0:0.798:0.0:0.202	.	328	O94850	DEND_HUMAN	S	328	ENSP00000390590:G328S	ENSP00000390590:G328S	G	-	1	0	DDN	47677944	0.000000	0.05858	0.001000	0.08648	0.743000	0.42351	0.617000	0.24359	0.617000	0.30160	0.561000	0.74099	GGT		0.677	DDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343335.1			T	49391677	C	T	49391677	3	4	782	1	0	0	0	0	1	0	0	0	4335	594	21	2	1157	2	DDN	12	49391677	Missense_Mutation	SNP	C	TCGA-Q2-A5QZ-01A-11D-A28G-10	33718479	49391677	84460218	62	46326											
C12orf24	29902	hgsc.bcm.edu	37	12	110906786	110906786	+	Missense_Mutation	SNP	C	C	T	rs202079205	byFrequency	TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr12:110906786C>T	ENST00000377673.5	+	1	618	c.106C>T	c.(106-108)Ccg>Tcg	p.P36S	GPN3_ENST00000537466.2_5'Flank|GPN3_ENST00000228827.3_5'Flank|GPN3_ENST00000552180.1_5'UTR|GPN3_ENST00000543199.1_5'Flank	NM_013300.2	NP_037432.2	Q8WUB2	F216A_HUMAN	family with sequence similarity 216, member A	36																	TTCTGCAGAGCCGCCCGCTGT	0.771													C|||	12	0.00239617	0.0091	0.0	5008	,	,		13111	0.0		0.0	False		,,,				2504	0.0															0								C	SER/PRO	24,3054		0,24,1515	2	2	2		106	3.3	0.1	12		2	0,6186		0,0,3093	yes	missense	C12orf24	NM_013300.2	74	0,24,4608	TT,TC,CC		0.0,0.7797,0.2591	probably-damaging	36/274	110906786	24,9240	1539	3093	4632	SO:0001583	missense	29902			U79274	CCDS31899.1	12q24.11	2012-02-07	2012-02-07	2012-02-07	ENSG00000204856	ENSG00000204856			30180	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 24"	C12orf24			Standard	NM_013300		Approved	HSU79274	uc001tqu.4	Q8WUB2	OTTHUMG00000169526	ENST00000377673.5:c.106C>T	chr12.hg19:g.110906786C>T	ENSP00000366901:p.Pro36Ser		A6NH30|Q99776	Missense_Mutation	SNP	ENST00000377673.5	hg19	CCDS31899.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.171608	0.78452	0.007797	0.0	ENSG00000204856	ENST00000377673;ENST00000538285	T	0.51071	0.72	4.16	3.27	0.37495	.	0.000000	0.39544	N	0.001336	T	0.32645	0.0836	L	0.56769	1.78	0.27811	N	0.942126	B;B	0.30709	0.291;0.129	B;B	0.26693	0.072;0.031	T	0.41645	-0.9497	10	0.87932	D	0	-0.6948	9.2806	0.37727	0.0:0.8974:0.0:0.1026	.	36;36	F5GZE4;Q8WUB2	.;CL024_HUMAN	S	36	ENSP00000366901:P36S	ENSP00000366901:P36S	P	+	1	0	C12orf24	109391169	0.943000	0.32029	0.132000	0.22025	0.895000	0.52256	2.944000	0.49034	1.096000	0.41439	0.462000	0.41574	CCG		0.771	FAM216A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404616.1	NM_013300		T	110906786	C	T	110906786	3	4	782	1	0	0	0	0	1	0	0	0	1680	739	26	2	108	2	C12orf24	12	110906786	Missense_Mutation	SNP	C	TCGA-Q2-A5QZ-01A-11D-A28G-10	61515109	110906786	22945109	63	46327											
RAD9B	160760	hgsc.bcm.edu	37	12	110969392	110969392	+	3'UTR	SNP	A	A	G	rs139110749	byFrequency	TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr12:110969392A>G	ENST00000354300.3	-	0	6653				RAD9B_ENST00000409778.3_Missense_Mutation_p.K311R|RAD9B_ENST00000409300.1_3'UTR|RAD9B_ENST00000409425.1_3'UTR|RAD9B_ENST00000409246.1_3'UTR|RAD9B_ENST00000392672.4_Silent_p.K416K	NM_139283.1	NP_644812.1	Q8NI37	PPTC7_HUMAN	PTC7 protein phosphatase homolog (S. cerevisiae)							mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(1)|large_intestine(2)|lung(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	9						GCTGCAGGAAAGAATTTAATG	0.353																																																0													94	83	87					12																	110969392		1566	3582	5148	SO:0001624	3_prime_UTR_variant	144715			AF385435	CCDS9149.1	12q24.11	2009-11-05				ENSG00000196850			30695	protein-coding gene	gene with protein product	"T cell activation protein phosphatase 2C"	609668				15177553	Standard	NM_139283		Approved	TA-PP2C	uc001trh.1	Q8NI37	OTTHUMG00000169529	ENST00000354300.3:c.*5450T>C	chr12.hg19:g.110969392A>G			B3KWC5|Q68DZ7|Q6UY82	Silent	SNP	ENST00000354300.3	hg19	CCDS9149.1	.	.	.	.	.	.	.	.	.	.	A	13.82	2.352501	0.41700	.	.	ENSG00000151164	ENST00000409778	T	0.19250	2.16	4.49	2.08	0.27032	.	155.184000	0.02530	U	0.093532	T	0.15609	0.0376	.	.	.	0.09310	N	1	B	0.26635	0.155	B	0.23574	0.047	T	0.21211	-1.0252	9	0.40728	T	0.16	14.2473	4.9792	0.14157	0.6246:0.1916:0.0:0.1837	.	311	B4DYM6	.	R	311	ENSP00000386697:K311R	ENSP00000386697:K311R	K	+	2	0	RAD9B	109453775	0.009000	0.17119	0.001000	0.08648	0.372000	0.29890	1.856000	0.39389	0.343000	0.23821	0.397000	0.26171	AAG		0.353	PPTC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404635.1	NM_139283		G	110969392	A	G	110969392	1	3	782	0	1	0	0	0	0	0	0	0	13002	69	3	3		3	RAD9B	12	110969392	3'UTR	SNP	A	TCGA-Q2-A5QZ-01A-11D-A28G-10	62606	110969392	22882503	64	46328											
CUX2	23316	hgsc.bcm.edu	37	12	111785758	111785759	+	Frame_Shift_Ins	INS	-	-	A			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr12:111785758_111785759insA	ENST00000261726.6	+	22	4244_4245	c.4090_4091insA	c.(4090-4092)caafs	p.Q1364fs		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1364	Pro-rich.				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						ACTTCATCCCCAACAGGAGAGT	0.604																																																0																																										SO:0001589	frameshift_variant	23316			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.4092dupA	chr12.hg19:g.111785760_111785760dupA	ENSP00000261726:p.Gln1364fs		A7E2Y4	Frame_Shift_Ins	INS	ENST00000261726.6	hg19	CCDS41837.1																																																																																				0.604	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		A	111785759	-	A	111785758	7	5	782	1	0	1	1	0	0	0	0	0	4067	595	21	0	4176	0	CUX2	12	111785758	Frame_Shift_Ins	INS	-	TCGA-Q2-A5QZ-01A-11D-A28G-10	816366	111785758	22066137	65	46329											
RBM19	9904	hgsc.bcm.edu	37	12	114385205	114385205	+	Silent	SNP	G	G	A			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr12:114385205G>A	ENST00000545145.2	-	11	1419	c.1341C>T	c.(1339-1341)ttC>ttT	p.F447F	RBM19_ENST00000392561.3_Silent_p.F447F|RBM19_ENST00000261741.5_Silent_p.F447F	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	447	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					TGAAGGTGATGAATGCAAAAC	0.602																																																0													144	122	130					12																	114385205		2203	4300	6503	SO:0001819	synonymous_variant	9904			AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"RNA binding motif (RRM) containing"	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.1341C>T	chr12.hg19:g.114385205G>A			A8K5X9|Q9BPY6|Q9UFN5	Silent	SNP	ENST00000545145.2	hg19	CCDS9172.1																																																																																				0.602	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196		A	114385205	G	A	114385205	2	1	782	1	0	0	0	0	0	0	0	1	13127	1281	45	2		2	RBM19	12	114385205	Silent	SNP	G	TCGA-Q2-A5QZ-01A-11D-A28G-10	2599447	114385205	19466690	66	46330											
BRI3BP	140707	hgsc.bcm.edu	37	12	125509640	125509640	+	Silent	SNP	C	C	A			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr12:125509640C>A	ENST00000341446.8	+	3	511	c.420C>A	c.(418-420)tcC>tcA	p.S140S		NM_080626.5	NP_542193.3			BRI3 binding protein											large_intestine(1)|lung(8)|ovary(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576)		GGTTCTTGTCCCTGACCCTGG	0.632																																																0													100	83	89					12																	125509640		2203	4300	6503	SO:0001819	synonymous_variant	140707			AF284094	CCDS9262.1	12q24.1	2008-08-04			ENSG00000184992	ENSG00000184992			14251	protein-coding gene	gene with protein product		615627				11860200, 17765869	Standard	NM_080626		Approved	BNAS1, KG19, HCCR-2	uc001uha.1	Q8WY22	OTTHUMG00000168548	ENST00000341446.8:c.420C>A	chr12.hg19:g.125509640C>A				Silent	SNP	ENST00000341446.8	hg19	CCDS9262.1																																																																																				0.632	BRI3BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400200.2	NM_080626		A	125509640	C	A	125509640	2	1	782	1	0	0	0	0	0	0	0	1	1515	610	22	4		4	BRI3BP	12	125509640	Silent	SNP	C	TCGA-Q2-A5QZ-01A-11D-A28G-10	11124435	125509640	8342255	67	46331											
N6AMT2	221143	hgsc.bcm.edu	37	13	21306119	21306119	+	Silent	SNP	T	T	C			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr13:21306119T>C	ENST00000382758.1	-	4	416	c.369A>G	c.(367-369)ccA>ccG	p.P123P	N6AMT2_ENST00000382754.4_Silent_p.P123P			Q8WVE0	N6MT2_HUMAN	N-6 adenine-specific DNA methyltransferase 2 (putative)	123						extracellular vesicular exosome (GO:0070062)	methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(3)|lung(3)	7		all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367)		all cancers(112;0.000234)|Epithelial(112;0.000471)|OV - Ovarian serous cystadenocarcinoma(117;0.0111)|Lung(94;0.0161)|LUSC - Lung squamous cell carcinoma(192;0.0431)		GTAAGTCCAATGGATTATTGT	0.378																																																0													121	116	118					13																	21306119		2203	4300	6503	SO:0001819	synonymous_variant	221143			AK055408	CCDS9293.1	13q12.11	2006-12-14			ENSG00000150456	ENSG00000150456			27351	protein-coding gene	gene with protein product						12477932	Standard	NM_174928		Approved		uc001uno.1	Q8WVE0	OTTHUMG00000016519	ENST00000382758.1:c.369A>G	chr13.hg19:g.21306119T>C			B5G4V1	Silent	SNP	ENST00000382758.1	hg19	CCDS9293.1																																																																																				0.378	N6AMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044083.1	NM_174928		C	21306119	T	C	21306119	2	2	782	1	0	0	0	0	0	0	0	1	10117	1451	51	3		3	N6AMT2	13	21306119	Silent	SNP	T	TCGA-Q2-A5QZ-01A-11D-A28G-10		21306119	93863759	68	46332											
FARP1	10160	hgsc.bcm.edu	37	13	99092299	99092299	+	Splice_Site	SNP	T	T	A			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr13:99092299T>A	ENST00000319562.6	+	22	2781		c.e22+2		FARP1_ENST00000595437.1_Splice_Site|FARP1_ENST00000376586.2_Splice_Site	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)						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)			GGCCGCCAGGTAACTCGGGAG	0.627																																																0													103	116	112					13																	99092299		2203	4300	6503	SO:0001630	splice_region_variant	10160			AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"Rho guanine nucleotide exchange factors", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Pleckstrin homology (PH) domain containing"	3591	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 75"	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.2516+2T>A	chr13.hg19:g.99092299T>A			Q5JVI9|Q6IQ29	Splice_Site	SNP	ENST00000319562.6	hg19	CCDS9487.1	.	.	.	.	.	.	.	.	.	.	T	27.6	4.843475	0.91197	.	.	ENSG00000152767	ENST00000376586;ENST00000319562	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0308	0.64615	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	FARP1	97890300	1.000000	0.71417	0.999000	0.59377	0.910000	0.53928	5.986000	0.70563	1.917000	0.55516	0.533000	0.62120	.		0.627	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766	Intron	A	99092299	T	A	99092299	5	1	782	1	0	0	0	0	0	0	1	0	5678	1652	57	5	2823	5	FARP1	13	99092299	Splice_Site	SNP	T	TCGA-Q2-A5QZ-01A-11D-A28G-10	77786180	99092299	16077579	69	46333											
FLJ10357	55701	hgsc.bcm.edu	37	14	21543565	21543565	+	Missense_Mutation	SNP	G	G	C			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr14:21543565G>C	ENST00000298694.4	+	4	1652	c.1525G>C	c.(1525-1527)Gac>Cac	p.D509H	ARHGEF40_ENST00000298693.3_Missense_Mutation_p.D509H			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	509						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						AGGAAAAGGGGACAACATTCC	0.557																																																0													131	127	128					14																	21543565		2203	4300	6503	SO:0001583	missense	55701				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.1525G>C	chr14.hg19:g.21543565G>C	ENSP00000298694:p.Asp509His		A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	Missense_Mutation	SNP	ENST00000298694.4	hg19	CCDS32041.1	.	.	.	.	.	.	.	.	.	.	G	0.307	-0.970175	0.02232	.	.	ENSG00000165801	ENST00000298694;ENST00000555038;ENST00000298693	T;T	0.02472	4.34;4.28	5.12	2.29	0.28610	.	0.113584	0.39210	N	0.001427	T	0.02230	0.0069	N	0.22421	0.69	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.09377	0.002;0.004	T	0.44329	-0.9335	10	0.40728	T	0.16	.	7.8371	0.29376	0.0851:0.308:0.6069:0.0	.	509;509	Q8TER5;G3V3N2	ARH40_HUMAN;.	H	509	ENSP00000298694:D509H;ENSP00000298693:D509H	ENSP00000298693:D509H	D	+	1	0	ARHGEF40	20613405	0.142000	0.22610	0.001000	0.08648	0.002000	0.02628	1.389000	0.34453	0.272000	0.22027	-0.225000	0.12378	GAC		0.557	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413122.1			C	21543565	G	C	21543565	3	2	782	1	0	0	0	0	1	0	0	0	5928	1174	41	4	1539	4	FLJ10357	14	21543565	Missense_Mutation	SNP	G	TCGA-Q2-A5QZ-01A-11D-A28G-10		21543565	85805975	70	46334											
KIAA1737	85457	hgsc.bcm.edu	37	14	77580238	77580238	+	Silent	SNP	C	C	T			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr14:77580238C>T	ENST00000361786.2	+	4	1094	c.777C>T	c.(775-777)ttC>ttT	p.F259F	RP11-463C8.4_ENST00000557752.1_Intron	NM_033426.2	NP_219494.2	Q9C0C6	CIPC_HUMAN		259					negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(2)|lung(4)|prostate(3)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)		GTCTGACCTTCGCTTCCCCCG	0.572																																																0													84	68	74					14																	77580238		2203	4300	6503	SO:0001819	synonymous_variant	85457																														ENST00000361786.2:c.777C>T	chr14.hg19:g.77580238C>T			B2RCI1|Q8N389|Q8NDZ1	Silent	SNP	ENST00000361786.2	hg19	CCDS9855.1																																																																																				0.572	KIAA1737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414278.1			T	77580238	C	T	77580238	2	4	782	1	0	0	0	0	0	0	0	1	8257	883	31	1		1	KIAA1737	14	77580238	Silent	SNP	C	TCGA-Q2-A5QZ-01A-11D-A28G-10	56036673	77580238	29769302	71	46335											
ITPK1	3705	hgsc.bcm.edu	37	14	93408017	93408017	+	Silent	SNP	C	C	T	rs563090061	byFrequency	TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr14:93408017C>T	ENST00000267615.6	-	11	1307	c.1134G>A	c.(1132-1134)gcG>gcA	p.A378A	ITPK1_ENST00000556603.2_Silent_p.A378A|ITPK1_ENST00000555495.1_Silent_p.A259A|ITPK1_ENST00000354313.3_Intron			Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase	378					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)			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)		CGGTGCCGCCCGCGTCGGCCT	0.736													C|||	4	0.000798722	0.0008	0.0014	5008	,	,		13386	0.001		0.0	False		,,,				2504	0.001															0													3	3	3					14																	93408017		1665	3314	4979	SO:0001819	synonymous_variant	3705			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.1134G>A	chr14.hg19:g.93408017C>T			Q9BTL6|Q9H2E7	Silent	SNP	ENST00000267615.6	hg19	CCDS9907.1																																																																																				0.736	ITPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412421.2	NM_014216		T	93408017	C	T	93408017	2	4	782	1	0	0	0	0	0	0	0	1	7918	639	23	1		1	ITPK1	14	93408017	Silent	SNP	C	TCGA-Q2-A5QZ-01A-11D-A28G-10	15827779	93408017	13941523	72	46336											
CASC5	57082	hgsc.bcm.edu	37	15	40915310	40915310	+	Missense_Mutation	SNP	G	G	T			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr15:40915310G>T	ENST00000346991.5	+	11	3316	c.2926G>T	c.(2926-2928)Gtt>Ttt	p.V976F	CASC5_ENST00000527044.1_3'UTR|CASC5_ENST00000399668.2_Missense_Mutation_p.V950F			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	976	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)		AGATAATCATGTTGAACTAGA	0.378																																																0													92	86	88					15																	40915310		1860	4104	5964	SO:0001583	missense	57082			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.2926G>T	chr15.hg19:g.40915310G>T	ENSP00000335463:p.Val976Phe		Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	ENST00000346991.5	hg19	CCDS42023.1	.	.	.	.	.	.	.	.	.	.	G	11.84	1.757693	0.31137	.	.	ENSG00000137812	ENST00000346991;ENST00000260369;ENST00000399668	T;T	0.16897	2.31;2.31	4.64	0.322	0.15888	.	0.547984	0.17535	N	0.170730	T	0.07503	0.0189	N	0.08118	0	0.09310	N	1	B;B;P	0.39352	0.101;0.009;0.669	B;B;B	0.34652	0.053;0.001;0.187	T	0.24621	-1.0155	10	0.62326	D	0.03	.	9.0014	0.36083	0.436:0.0:0.564:0.0	.	950;976;950	Q8NG31-2;Q8NG31;Q8NG31-4	.;CASC5_HUMAN;.	F	976;950;950	ENSP00000335463:V976F;ENSP00000382576:V950F	ENSP00000260369:V950F	V	+	1	0	CASC5	38702602	0.000000	0.05858	0.020000	0.16555	0.900000	0.52787	-0.061000	0.11693	0.051000	0.15978	0.557000	0.71058	GTT		0.378	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508		T	40915310	G	T	40915310	3	4	782	1	0	0	0	0	1	0	0	0	2665	1377	48	4	2964	4	CASC5	15	40915310	Missense_Mutation	SNP	G	TCGA-Q2-A5QZ-01A-11D-A28G-10		40915310	61616082	73	46337											
TGM7	116179	hgsc.bcm.edu	37	15	43585144	43585145	+	Missense_Mutation	DNP	GC	GC	TT	rs267604217		TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr15:43585144_43585145GC>TT	ENST00000452443.2	-	3	205_206	c.201_202GC>AA	c.(199-204)aaGCcg>aaAAcg	p.P68T		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	68					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)	AGCTCTGACGGCTTGGGTCCTG	0.559																																																0																																										SO:0001583	missense	116179			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.201_202delinsTT	chr15.hg19:g.43585144_43585145delinsTT	ENSP00000389466:p.Pro68Thr			Missense_Mutation|Silent	SNP	ENST00000452443.2	hg19	CCDS32213.1																																																																																				0.559	TGM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432489.1	NM_052955		TT	43585145	GC	TT	43585144	3	4	782	1	0	0	0	0	1	0	0	0	15840	1203	42	4	1974	4	TGM7	15	43585144	Missense_Mutation	DNP	GC	TCGA-Q2-A5QZ-01A-11D-A28G-10	2669834	43585144	58946248	74	46338											
HDC	3067	hgsc.bcm.edu	37	15	50535435	50535435	+	Missense_Mutation	SNP	C	C	T			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr15:50535435C>T	ENST00000267845.3	-	11	1549	c.1147G>A	c.(1147-1149)Gaa>Aaa	p.E383K	HDC_ENST00000543581.1_Missense_Mutation_p.E350K|RN7SL494P_ENST00000461517.2_RNA	NM_002112.3	NP_002103.2	Q9UBI9	HDC_HUMAN	histidine decarboxylase	0					respiratory tube development (GO:0030323)	membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)		TTAGCCATTTCAGTACCCTGG	0.403																																					GBM(95;1627 1936 6910 9570)											0													65	65	65					15																	50535435		2196	4295	6491	SO:0001583	missense	3067				CCDS10134.1	15q21.2	2013-09-20			ENSG00000140287	ENSG00000140287	4.1.1.22		4855	protein-coding gene	gene with protein product		142704				1487235	Standard	NM_002112		Approved		uc001zxz.3	P19113	OTTHUMG00000131644	ENST00000267845.3:c.1147G>A	chr15.hg19:g.50535435C>T	ENSP00000267845:p.Glu383Lys			Missense_Mutation	SNP	ENST00000267845.3	hg19	CCDS10134.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.043666	0.55003	.	.	ENSG00000140287	ENST00000267845;ENST00000543581	T;T	0.39592	1.07;1.07	5.82	4.9	0.64082	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.280579	0.41605	N	0.000857	T	0.37972	0.1023	L	0.28694	0.88	0.58432	D	0.999998	P;P	0.35894	0.526;0.526	B;B	0.43508	0.422;0.307	T	0.10200	-1.0640	10	0.18276	T	0.48	-10.5182	14.7799	0.69756	0.0:0.9307:0.0:0.0693	.	350;383	B7ZM01;P19113	.;DCHS_HUMAN	K	383;350	ENSP00000267845:E383K;ENSP00000440252:E350K	ENSP00000267845:E383K	E	-	1	0	HDC	48322727	0.999000	0.42202	0.897000	0.35233	0.970000	0.65996	3.899000	0.56288	1.462000	0.47948	0.467000	0.42956	GAA		0.403	HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254540.1			T	50535435	C	T	50535435	3	4	782	1	0	0	0	0	1	0	0	0	7017	835	29	2	849	2	HDC	15	50535435	Missense_Mutation	SNP	C	TCGA-Q2-A5QZ-01A-11D-A28G-10	6950291	50535435	51995957	75	46339											
MYO5C	55930	hgsc.bcm.edu	37	15	52500781	52500781	+	Silent	SNP	G	G	T			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr15:52500781G>T	ENST00000261839.7	-	36	4517	c.4356C>A	c.(4354-4356)ctC>ctA	p.L1452L	RP11-430B1.2_ENST00000560518.1_lincRNA	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1452	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.					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)		TCAGGCAATTGAGAAAATGAC	0.438											OREG0023129	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													105	107	106					15																	52500781		1889	4099	5988	SO:0001819	synonymous_variant	55930			AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"Myosins / Myosin superfamily : Class V"	7604	protein-coding gene	gene with protein product	"myosin 5C"	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.4356C>A	chr15.hg19:g.52500781G>T		985	Q6P1W8	Silent	SNP	ENST00000261839.7	hg19	CCDS42036.1																																																																																				0.438	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728		T	52500781	G	T	52500781	2	4	782	1	0	0	0	0	0	0	0	1	10082	1277	45	4		4	MYO5C	15	52500781	Silent	SNP	G	TCGA-Q2-A5QZ-01A-11D-A28G-10	1965346	52500781	50030611	76	46340											
CSPG4	1464	hgsc.bcm.edu	37	15	75982866	75982866	+	Silent	SNP	G	G	C			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr15:75982866G>C	ENST00000308508.5	-	3	632	c.540C>G	c.(538-540)ctC>ctG	p.L180L		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	180	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.|Neurite growth inhibition. {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						GAGGCCGGAGGAGGCTGCGGC	0.647																																																0													35	40	38					15																	75982866		2147	4173	6320	SO:0001819	synonymous_variant	1464			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.540C>G	chr15.hg19:g.75982866G>C			D3DW77|Q92675	Silent	SNP	ENST00000308508.5	hg19	CCDS10284.1																																																																																				0.647	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		C	75982866	G	C	75982866	2	2	782	1	0	0	0	0	0	0	0	1	3962	1161	41	4		4	CSPG4	15	75982866	Silent	SNP	G	TCGA-Q2-A5QZ-01A-11D-A28G-10	23482085	75982866	26548526	77	46341											
HMOX2	3163	hgsc.bcm.edu	37	16	4557977	4557977	+	Silent	SNP	C	C	T			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr16:4557977C>T	ENST00000570646.1	+	4	1073	c.468C>T	c.(466-468)cgC>cgT	p.R156R	HMOX2_ENST00000575120.1_Silent_p.R127R|HMOX2_ENST00000414777.1_Silent_p.R156R|HMOX2_ENST00000406590.2_Silent_p.R156R|HMOX2_ENST00000458134.3_Silent_p.R156R|HMOX2_ENST00000219700.6_Silent_p.R156R|HMOX2_ENST00000398595.3_Silent_p.R156R	NM_002134.3	NP_002125.3	P30519	HMOX2_HUMAN	heme oxygenase (decycling) 2	156					cellular iron ion homeostasis (GO:0006879)|heme catabolic process (GO:0042167)|heme oxidation (GO:0006788)|porphyrin-containing compound metabolic process (GO:0006778)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heme oxygenase (decyclizing) activity (GO:0004392)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8						CATACACCCGCTACATGGGGG	0.617																																																0													39	43	41					16																	4557977		2197	4300	6497	SO:0001819	synonymous_variant	3163				CCDS10517.1, CCDS66931.1, CCDS73818.1	16p13.3	2008-02-05			ENSG00000103415	ENSG00000103415	1.14.99.3		5014	protein-coding gene	gene with protein product		141251				1575508	Standard	NM_002134		Approved	HO-2	uc002cwq.4	P30519	OTTHUMG00000129473	ENST00000570646.1:c.468C>T	chr16.hg19:g.4557977C>T			A8MT35|D3DUD5|I3L430|O60605	Silent	SNP	ENST00000570646.1	hg19	CCDS10517.1																																																																																				0.617	HMOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251636.2			T	4557977	C	T	4557977	2	4	782	1	0	0	0	0	0	0	0	1	7246	784	28	2		2	HMOX2	16	4557977	Silent	SNP	C	TCGA-Q2-A5QZ-01A-11D-A28G-10		4557977	85796776	78	46342											
LAT	27040	hgsc.bcm.edu	37	16	28996234	28996234	+	5'Flank	SNP	G	G	A	rs572112079	byFrequency	TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr16:28996234G>A	ENST00000360872.5	+	0	0				LAT_ENST00000454369.2_5'Flank|LAT_ENST00000354453.4_5'Flank|RP11-264B17.3_ENST00000569969.1_RNA|LAT_ENST00000395461.3_Missense_Mutation_p.A18T|LAT_ENST00000395456.2_5'Flank|LAT_ENST00000564277.1_5'Flank|LAT_ENST00000566177.1_5'Flank			O43561	LAT_HUMAN	linker for activation of T cells						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)				CTTGGGGGGGGCCAGCAGACC	0.731																																																0													7	8	8					16																	28996234		690	1584	2274	SO:0001631	upstream_gene_variant	27040			AF036905	CCDS10647.1, CCDS32425.1, CCDS45455.1, CCDS53999.1	16q13	2011-11-01			ENSG00000213658	ENSG00000213658			18874	protein-coding gene	gene with protein product	"linker for activation of T cells, transmembrane adaptor"	602354				9489702	Standard	NM_014387		Approved	LAT1	uc010vdj.2	O43561	OTTHUMG00000131761		chr16.hg19:g.28996234G>A	Exception_encountered		B7WPI0|C7C5T6|G5E9K3|O43919	Missense_Mutation	SNP	ENST00000360872.5	hg19	CCDS10647.1	.	.	.	.	.	.	.	.	.	.	G	10.06	1.247385	0.22880	.	.	ENSG00000213658	ENST00000395461	.	.	.	2.5	-1.56	0.08532	.	.	.	.	.	T	0.16128	0.0388	N	0.08118	0	0.19300	N	0.999973	B	0.02656	0.0	B	0.01281	0.0	T	0.21655	-1.0239	8	0.87932	D	0	-0.7971	3.9972	0.09564	0.1852:0.4888:0.326:0.0	.	18	B7WPI0	.	T	18	.	ENSP00000378845:A18T	A	+	1	0	LAT	28903735	0.000000	0.05858	0.002000	0.10522	0.036000	0.12997	-0.751000	0.04803	-0.063000	0.13065	-0.264000	0.10439	GCC		0.731	LAT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254688.2			A	28996234	G	A	28996234	1	1	782	0	1	0	0	0	0	0	0	0	8646	1203	42	2		2	LAT	16	28996234	5'Flank	SNP	G	TCGA-Q2-A5QZ-01A-11D-A28G-10	24438257	28996234	61358519	79	46343											
PRRT2	112476	hgsc.bcm.edu	37	16	29825753	29825753	+	Missense_Mutation	SNP	A	A	C			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr16:29825753A>C	ENST00000358758.7	+	3	1262	c.979A>C	c.(979-981)Atc>Ctc	p.I327L	AC009133.20_ENST00000569039.1_RNA|PAGR1_ENST00000609618.1_5'Flank|PRRT2_ENST00000567659.1_Missense_Mutation_p.I327L|PAGR1_ENST00000320330.6_5'Flank|AC009133.14_ENST00000569981.1_RNA|PRRT2_ENST00000300797.6_3'UTR	NM_001256442.1|NM_001256443.1|NM_145239.2	NP_001243371.1|NP_001243372.1|NP_660282.2	Q7Z6L0	PRRT2_HUMAN	proline-rich transmembrane protein 2	327					neuromuscular process controlling posture (GO:0050884)|response to biotic stimulus (GO:0009607)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	8						GGGAGTCCTCATCATCATCGC	0.642																																																0													73	81	78					16																	29825753		2197	4300	6497	SO:0001583	missense	112476			BC011405	CCDS10654.1, CCDS58445.1, CCDS58446.1	16p11.2	2014-02-03			ENSG00000167371	ENSG00000167371		"Proline-rich transmembrane proteins"	30500	protein-coding gene	gene with protein product	"interferon induced transmembrane protein domain containing 1"	614386	"infantile convulsions and paroxysmal choreoathetosis"	ICCA		22101681, 22243967	Standard	NM_145239		Approved	FLJ25513, DKFZp547J199, IFITMD1, FICCA	uc002dud.3	Q7Z6L0	OTTHUMG00000177142	ENST00000358758.7:c.979A>C	chr16.hg19:g.29825753A>C	ENSP00000351608:p.Ile327Leu		A8K8M8|Q8N2N8|Q8NAQ7|Q8ND36|Q96FA8	Missense_Mutation	SNP	ENST00000358758.7	hg19	CCDS10654.1	.	.	.	.	.	.	.	.	.	.	A	19.38	3.815687	0.70912	.	.	ENSG00000167371	ENST00000358758	D	0.85339	-1.97	3.71	3.71	0.42584	.	0.745808	0.12408	N	0.471504	D	0.86410	0.5926	N	0.25380	0.74	0.80722	D	1	D;D	0.63046	0.992;0.99	D;D	0.76071	0.987;0.978	T	0.82796	-0.0280	10	0.40728	T	0.16	-8.8013	10.7234	0.46052	1.0:0.0:0.0:0.0	.	327;327	Q7Z6L0;Q7Z6L0-2	PRRT2_HUMAN;.	L	327	ENSP00000351608:I327L	ENSP00000351608:I327L	I	+	1	0	PRRT2	29733254	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.922000	0.48860	1.481000	0.48307	0.372000	0.22366	ATC		0.642	PRRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255161.3	NM_145239		C	29825753	A	C	29825753	3	2	782	1	0	0	0	0	1	0	0	0	12615	217	8	5	985	5	PRRT2	16	29825753	Missense_Mutation	SNP	A	TCGA-Q2-A5QZ-01A-11D-A28G-10	829519	29825753	60529000	80	46344											
DHX38	9785	hgsc.bcm.edu	37	16	72141342	72141342	+	Missense_Mutation	SNP	G	G	A	rs374391366		TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr16:72141342G>A	ENST00000268482.3	+	20	3213	c.2704G>A	c.(2704-2706)Ggg>Agg	p.G902R	DHX38_ENST00000536867.1_Missense_Mutation_p.G214R	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	902	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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)				CAAGTCCCTCGGGGTGCAGGA	0.597																																					Melanoma(97;711 1442 7855 13832 28836)											0								G	ARG/GLY	2,4394	4.2+/-10.8	0,2,2196	42	37	38		2704	5.3	1	16		38	0,8600		0,0,4300	no	missense	DHX38	NM_014003.3	125	0,2,6496	AA,AG,GG		0.0,0.0455,0.0154	possibly-damaging	902/1228	72141342	2,12994	2198	4300	6498	SO:0001583	missense	9785			AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"DEAH-boxes"	17211	protein-coding gene	gene with protein product		605584	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.2704G>A	chr16.hg19:g.72141342G>A	ENSP00000268482:p.Gly902Arg		B4DVG8|D3DWS7|O75212|Q96HN7	Missense_Mutation	SNP	ENST00000268482.3	hg19	CCDS10907.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.651253	0.88056	4.55E-4	0.0	ENSG00000140829	ENST00000268482;ENST00000536867	T;T	0.04156	3.69;3.69	5.28	5.28	0.74379	Helicase, C-terminal (1);	0.125696	0.52532	D	0.000067	T	0.14743	0.0356	M	0.85462	2.755	0.80722	D	1	D;P	0.53885	0.963;0.936	B;P	0.45449	0.429;0.481	T	0.01604	-1.1314	10	0.72032	D	0.01	.	18.7055	0.91637	0.0:0.0:1.0:0.0	.	214;902	B4DVG8;Q92620	.;PRP16_HUMAN	R	902;214	ENSP00000268482:G902R;ENSP00000437898:G214R	ENSP00000268482:G902R	G	+	1	0	DHX38	70698843	1.000000	0.71417	0.966000	0.40874	0.973000	0.67179	9.190000	0.94934	2.745000	0.94114	0.655000	0.94253	GGG		0.597	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269004.3	NM_014003		A	72141342	G	A	72141342	3	1	782	1	0	0	0	0	1	0	0	0	4513	1116	39	1	2778	1	DHX38	16	72141342	Missense_Mutation	SNP	G	TCGA-Q2-A5QZ-01A-11D-A28G-10	42315589	72141342	18213411	81	46345											
ZFHX3	463	hgsc.bcm.edu	37	16	72923790	72923790	+	Frame_Shift_Del	DEL	G	G	-			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr16:72923790delG	ENST00000268489.5	-	4	3960	c.3288delC	c.(3286-3288)tccfs	p.S1096fs	ZFHX3_ENST00000397992.5_Frame_Shift_Del_p.S182fs	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1096					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)				TGGCCTTGGTGGAGTAGTTGC	0.557																																																0													107	75	86					16																	72923790		2198	4300	6498	SO:0001589	frameshift_variant	463			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.3288delC	chr16.hg19:g.72923790delG	ENSP00000268489:p.Ser1096fs		D3DWS8|O15101|Q13719	Frame_Shift_Del	DEL	ENST00000268489.5	hg19	CCDS10908.1																																																																																				0.557	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		-	72923790	G	-	72923790	7	5	782	1	0	1	0	1	0	0	0	0	17639	1335	47	0	7851	0	ZFHX3	16	72923790	Frame_Shift_Del	DEL	G	TCGA-Q2-A5QZ-01A-11D-A28G-10	782448	72923790	17430963	82	46346											
MYO1D	4642	hgsc.bcm.edu	37	17	31098169	31098169	+	Missense_Mutation	SNP	A	A	G			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr17:31098169A>G	ENST00000318217.5	-	6	992	c.688T>C	c.(688-690)Tat>Cat	p.Y230H	MYO1D_ENST00000579584.1_Missense_Mutation_p.Y230H|MYO1D_ENST00000583621.1_Missense_Mutation_p.Y230H|MYO1D_ENST00000394649.4_Missense_Mutation_p.Y142H	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	230	Myosin motor.				early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			ACATGAATATAGTTGTAGGAT	0.348																																																0													104	105	105					17																	31098169		2203	4300	6503	SO:0001583	missense	4642			AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"Myosins / Myosin superfamily : Class I"	7598	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 108"	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.688T>C	chr17.hg19:g.31098169A>G	ENSP00000324527:p.Tyr230His		A6H8V3|Q8NHP9	Missense_Mutation	SNP	ENST00000318217.5	hg19	CCDS32615.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.637013	0.87760	.	.	ENSG00000176658	ENST00000318217	D	0.91124	-2.79	5.82	5.82	0.92795	Myosin head, motor domain (2);	0.000000	0.36134	U	0.002776	D	0.96941	0.9001	H	0.97265	3.97	0.58432	D	0.999999	D;D	0.67145	0.996;0.993	D;D	0.71870	0.966;0.975	D	0.98122	1.0426	10	0.87932	D	0	.	14.1486	0.65367	1.0:0.0:0.0:0.0	.	141;230	Q7Z3N6;O94832	.;MYO1D_HUMAN	H	230	ENSP00000324527:Y230H	ENSP00000324527:Y230H	Y	-	1	0	MYO1D	28122282	1.000000	0.71417	0.999000	0.59377	0.921000	0.55340	8.730000	0.91510	2.232000	0.73038	0.528000	0.53228	TAT		0.348	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447457.1			G	31098169	A	G	31098169	3	3	782	1	0	0	0	0	1	0	0	0	10073	420	15	3	2400	3	MYO1D	17	31098169	Missense_Mutation	SNP	A	TCGA-Q2-A5QZ-01A-11D-A28G-10		31098169	50097041	83	46347											
LYZL6	57151	hgsc.bcm.edu	37	17	34263772	34263772	+	Missense_Mutation	SNP	C	C	G			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr17:34263772C>G	ENST00000585556.1	-	4	698	c.364G>C	c.(364-366)Ggg>Cgg	p.G122R	LYZL6_ENST00000492340.2_5'UTR|LYZL6_ENST00000394523.3_Missense_Mutation_p.G122R|LYZL6_ENST00000293274.4_Missense_Mutation_p.G122R			O75951	LYZL6_HUMAN	lysozyme-like 6	122					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	12				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TTGTTCATCCCCCGTGCTCCG	0.572																																																0													114	103	107					17																	34263772		2203	4300	6503	SO:0001583	missense	57151			AF088219, AY742214	CCDS11302.1	17q11.2	2014-04-10			ENSG00000161572	ENSG00000275722			29614	protein-coding gene	gene with protein product		612751				10213461	Standard	NM_020426		Approved	LYC1, PRO1485, TKAL754	uc002hkj.2	O75951	OTTHUMG00000188400	ENST00000585556.1:c.364G>C	chr17.hg19:g.34263772C>G	ENSP00000468094:p.Gly122Arg		Q6UW30	Missense_Mutation	SNP	ENST00000585556.1	hg19	CCDS11302.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.733915	0.30684	.	.	ENSG00000161572	ENST00000293274;ENST00000394523	T;T	0.75589	-0.95;-0.95	4.89	3.9	0.45041	Lysozyme-like domain (1);	0.000000	0.64402	D	0.000001	D	0.88273	0.6392	M	0.93462	3.42	0.09310	N	0.999991	D	0.89917	1.0	D	0.97110	1.0	T	0.81048	-0.1109	10	0.87932	D	0	-6.5656	10.8134	0.46559	0.1893:0.8107:0.0:0.0	.	122	O75951	LYZL6_HUMAN	R	122	ENSP00000293274:G122R;ENSP00000378031:G122R	ENSP00000293274:G122R	G	-	1	0	LYZL6	31287885	0.102000	0.21896	0.008000	0.14137	0.071000	0.16799	1.597000	0.36729	1.168000	0.42723	0.561000	0.74099	GGG		0.572	LYZL6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256578.2	NM_020426		G	34263772	C	G	34263772	3	3	782	1	0	0	0	0	1	0	0	0	9136	623	22	4	90	4	LYZL6	17	34263772	Missense_Mutation	SNP	C	TCGA-Q2-A5QZ-01A-11D-A28G-10	3165603	34263772	46931438	84	46348											
KRTAP4-11	653240	hgsc.bcm.edu	37	17	39274238	39274238	+	Silent	SNP	A	A	G			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	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																																																0													5	9	8					17																	39274238		657	1550	2207	SO:0001819	synonymous_variant	653240			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	chr17.hg19:g.39274238A>G			A0AUY2	Silent	SNP	ENST00000391413.2	hg19	CCDS45675.1																																																																																				0.652	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			G	39274238	A	G	39274238	2	3	782	1	0	0	0	0	0	0	0	1	8551	273	10	3		3	KRTAP4-11	17	39274238	Silent	SNP	A	TCGA-Q2-A5QZ-01A-11D-A28G-10	5010466	39274238	41920972	85	46349											
KRTAP4-12	83755	hgsc.bcm.edu	37	17	39280069	39280069	+	Silent	SNP	G	G	A	rs374262239		TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr17:39280069G>A	ENST00000394014.1	-	1	350	c.306C>T	c.(304-306)cgC>cgT	p.R102R		NM_031854.2	NP_114060.1	Q9BQ66	KR412_HUMAN	keratin associated protein 4-12	102	31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC].					keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AGCAGCTGGGGCGGCAGCAGG	0.667																																																0								G		44,4314		0,44,2135	38	44	42		306	-2.5	0	17		42	0,8532		0,0,4266	no	coding-synonymous	KRTAP4-12	NM_031854.2		0,44,6401	AA,AG,GG		0.0,1.0096,0.3413		102/202	39280069	44,12846	2179	4266	6445	SO:0001819	synonymous_variant	83755			AJ406943	CCDS32649.1	17q21.2	2013-06-25			ENSG00000213416	ENSG00000213416		"Keratin associated proteins"	16776	protein-coding gene	gene with protein product						11279113	Standard	NM_031854		Approved	KAP4.12	uc002hwa.3	Q9BQ66	OTTHUMG00000133632	ENST00000394014.1:c.306C>T	chr17.hg19:g.39280069G>A			A3KMC5|Q495I0	Silent	SNP	ENST00000394014.1	hg19	CCDS32649.1																																																																																				0.667	KRTAP4-12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257777.1			A	39280069	G	A	39280069	2	1	782	1	0	0	0	0	0	0	0	1	8552	1190	42	2		2	KRTAP4-12	17	39280069	Silent	SNP	G	TCGA-Q2-A5QZ-01A-11D-A28G-10	5831	39280069	41915141	86	46350											
TUBG1	7283	hgsc.bcm.edu	37	17	40765685	40765685	+	Silent	SNP	C	C	T			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr17:40765685C>T	ENST00000251413.3	+	7	689	c.627C>T	c.(625-627)gcC>gcT	p.A209A		NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	209					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)	p.A209A(1)		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)	ACAACACAGCCCTGAACCGGA	0.562																																					Colon(20;114 698 11420 22864)											1	Substitution - coding silent(1)	large_intestine(1)											176	166	169					17																	40765685		2203	4300	6503	SO:0001819	synonymous_variant	7283			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.627C>T	chr17.hg19:g.40765685C>T			Q53X79|Q9BW59	Silent	SNP	ENST00000251413.3	hg19	CCDS11433.1																																																																																				0.562	TUBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450548.1	NM_001070		T	40765685	C	T	40765685	2	4	782	1	0	0	0	0	0	0	0	1	16769	610	22	2		2	TUBG1	17	40765685	Silent	SNP	C	TCGA-Q2-A5QZ-01A-11D-A28G-10	1485616	40765685	40429525	87	46351											
SOST	50964	hgsc.bcm.edu	37	17	41835944	41835944	+	Missense_Mutation	SNP	T	T	C			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr17:41835944T>C	ENST00000301691.2	-	1	212	c.166A>G	c.(166-168)Atg>Gtg	p.M56V		NM_025237.2	NP_079513.1	Q9BQB4	SOST_HUMAN	sclerostin	56					cellular response to parathyroid hormone stimulus (GO:0071374)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000054)|ossification (GO:0001503)|positive regulation of transcription, DNA-templated (GO:0045893)|response to mechanical stimulus (GO:0009612)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|transcription factor binding (GO:0008134)			large_intestine(2)|lung(3)|prostate(1)	6		Breast(137;0.00725)		UCEC - Uterine corpus endometrioid carcinoma (308;0.177)|BRCA - Breast invasive adenocarcinoma(366;0.0741)		GCCCGGTTCATGGTCTTGTTG	0.597																																																0													57	54	55					17																	41835944		2203	4300	6503	SO:0001583	missense	50964			AF326736	CCDS11468.1	17q12-q21	2014-06-28	2010-04-28			ENSG00000167941			13771	protein-coding gene	gene with protein product		605740	"sclerosteosis"			11179006, 11181578	Standard	NM_025237		Approved	VBCH	uc002iec.1	Q9BQB4		ENST00000301691.2:c.166A>G	chr17.hg19:g.41835944T>C	ENSP00000301691:p.Met56Val		Q495N9	Missense_Mutation	SNP	ENST00000301691.2	hg19	CCDS11468.1	.	.	.	.	.	.	.	.	.	.	T	16.55	3.155167	0.57259	.	.	ENSG00000167941	ENST00000301691	T	0.76578	-1.03	4.26	3.15	0.36227	.	0.404445	0.25642	N	0.029277	T	0.67702	0.2921	L	0.55481	1.735	0.35701	D	0.815622	B	0.33171	0.4	B	0.24394	0.053	T	0.69756	-0.5059	10	0.48119	T	0.1	-0.6649	8.7222	0.34447	0.1693:0.0:0.0:0.8307	.	56	Q9BQB4	SOST_HUMAN	V	56	ENSP00000301691:M56V	ENSP00000301691:M56V	M	-	1	0	SOST	39191470	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.993000	0.49425	0.648000	0.30732	0.454000	0.30748	ATG		0.597	SOST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453502.1	NM_025237		C	41835944	T	C	41835944	3	2	782	1	0	0	0	0	1	0	0	0	14944	1464	51	3	483	3	SOST	17	41835944	Missense_Mutation	SNP	T	TCGA-Q2-A5QZ-01A-11D-A28G-10	1070259	41835944	39359266	88	46352											
HDAC5	10014	hgsc.bcm.edu	37	17	42171119	42171119	+	Missense_Mutation	SNP	G	G	A			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr17:42171119G>A	ENST00000393622.2	-	4	509	c.178C>T	c.(178-180)Cgg>Tgg	p.R60W	HDAC5_ENST00000586802.1_Missense_Mutation_p.R60W|HDAC5_ENST00000336057.5_Missense_Mutation_p.R60W|HDAC5_ENST00000225983.6_Missense_Mutation_p.R61W	NM_001015053.1|NM_005474.4	NP_001015053.1|NP_005465.2	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	60					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|chromatin silencing (GO:0006342)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|inflammatory response (GO:0006954)|multicellular organismal response to stress (GO:0033555)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|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 gene expression, epigenetic (GO:0040029)|regulation of myotube differentiation (GO:0010830)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|histone deacetylase complex (GO:0000118)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|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 C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		AGAGCCCCCCGTAGCTCCACA	0.667																																																0													13	15	15					17																	42171119		2197	4295	6492	SO:0001583	missense	10014			AF249731	CCDS32663.1, CCDS45696.1	17q21	2008-07-18					3.5.1.98		14068	protein-coding gene	gene with protein product		605315				10220385, 9610721	Standard	XM_005256905		Approved	KIAA0600, NY-CO-9, FLJ90614	uc002iff.1	Q9UQL6		ENST00000393622.2:c.178C>T	chr17.hg19:g.42171119G>A	ENSP00000377244:p.Arg60Trp		C9JFV9|O60340|O60528|Q96DY4	Missense_Mutation	SNP	ENST00000393622.2	hg19	CCDS45696.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.604577	0.66445	.	.	ENSG00000108840	ENST00000225983;ENST00000393622;ENST00000336057	T;T;T	0.50001	0.78;0.78;0.76	4.14	4.14	0.48551	.	0.240511	0.26859	N	0.022121	T	0.56891	0.2016	L	0.32530	0.975	0.42561	D	0.993142	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.69654	0.965;0.924;0.965;0.924	T	0.63189	-0.6693	10	0.87932	D	0	-23.2017	15.156	0.72743	0.0:0.0:1.0:0.0	.	60;60;61;60	Q9UQL6-2;B4DGT4;Q9UQL6-3;Q9UQL6	.;.;.;HDAC5_HUMAN	W	61;60;60	ENSP00000225983:R61W;ENSP00000377244:R60W;ENSP00000337290:R60W	ENSP00000225983:R61W	R	-	1	2	HDAC5	39526645	0.996000	0.38824	0.992000	0.48379	0.875000	0.50365	3.362000	0.52314	1.858000	0.53909	0.462000	0.41574	CGG		0.667	HDAC5-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457686.1	NM_001015053		A	42171119	G	A	42171119	3	1	782	1	0	0	0	0	1	0	0	0	7012	1144	40	1	3286	1	HDAC5	17	42171119	Missense_Mutation	SNP	G	TCGA-Q2-A5QZ-01A-11D-A28G-10	335175	42171119	39024091	89	46353											
RALBP1	10928	hgsc.bcm.edu	37	18	9524725	9524725	+	Missense_Mutation	SNP	C	C	T			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr18:9524725C>T	ENST00000019317.4	+	5	1410	c.1187C>T	c.(1186-1188)gCg>gTg	p.A396V	RALBP1_ENST00000383432.3_Missense_Mutation_p.A396V			Q15311	RBP1_HUMAN	ralA binding protein 1	396					ATP catabolic process (GO:0006200)|chemotaxis (GO:0006935)|positive regulation of Cdc42 GTPase activity (GO:0043089)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|transport (GO:0006810)	cytosol (GO:0005829)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ATPase activity, coupled to movement of substances (GO:0043492)|GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14					Carbamazepine(DB00564)|Doxorubicin(DB00997)|Sorafenib(DB00398)|Vincristine(DB00541)	GAGACCCAGGCGGGCATCAAG	0.557																																																0													42	36	38					18																	9524725		2203	4300	6503	SO:0001583	missense	10928			L42542	CCDS11845.1	18p11.22	2006-04-22			ENSG00000017797	ENSG00000017797			9841	protein-coding gene	gene with protein product		605801				7673236	Standard	NM_006788		Approved	RLIP76, RIP1, RIP	uc002koc.3	Q15311	OTTHUMG00000131596	ENST00000019317.4:c.1187C>T	chr18.hg19:g.9524725C>T	ENSP00000019317:p.Ala396Val		D3DUI0	Missense_Mutation	SNP	ENST00000019317.4	hg19	CCDS11845.1	.	.	.	.	.	.	.	.	.	.	C	14.23	2.472202	0.43942	.	.	ENSG00000017797	ENST00000019317;ENST00000383432	T;T	0.10763	2.84;2.84	5.51	3.42	0.39159	.	0.141251	0.64402	D	0.000006	T	0.06142	0.0159	N	0.14661	0.345	0.41488	D	0.988201	B	0.23650	0.089	B	0.18871	0.023	T	0.32079	-0.9920	10	0.51188	T	0.08	0.7672	7.3696	0.26794	0.6491:0.2443:0.0:0.1066	.	396	Q15311	RBP1_HUMAN	V	396	ENSP00000019317:A396V;ENSP00000372924:A396V	ENSP00000019317:A396V	A	+	2	0	RALBP1	9514725	1.000000	0.71417	0.749000	0.31150	0.410000	0.31052	6.100000	0.71473	0.640000	0.30582	-0.140000	0.14226	GCG		0.557	RALBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254479.1	NM_006788		T	9524725	C	T	9524725	3	4	782	1	0	0	0	0	1	0	0	0	13018	768	27	1	1201	1	RALBP1	18	9524725	Missense_Mutation	SNP	C	TCGA-Q2-A5QZ-01A-11D-A28G-10		9524725	68552523	90	46354											
OR7E24	26648	hgsc.bcm.edu	37	19	9362181	9362181	+	Missense_Mutation	SNP	G	G	C			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr19:9362181G>C	ENST00000456448.1	+	1	576	c.462G>C	c.(460-462)atG>atC	p.M154I		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	154						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(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						GAATCATCATGAACCCACGCC	0.443																																																0													130	144	139					19																	9362181		2193	4296	6489	SO:0001583	missense	26648			Y10529	CCDS45955.1	19p13.2	2012-08-09	2004-03-04	2004-03-05		ENSG00000237521		"GPCR / Class A : Olfactory receptors"	8396	protein-coding gene	gene with protein product			"olfactory receptor, family 7, subfamily E, member 24 pseudogene"	OR7E24P		9268701	Standard	NM_001079935		Approved	OR19-8, HSHT2, OR7E24Q	uc002mlb.1	Q6IFN5		ENST00000456448.1:c.462G>C	chr19.hg19:g.9362181G>C	ENSP00000387523:p.Met154Ile		B9EJD9|Q9UPJ1	Missense_Mutation	SNP	ENST00000456448.1	hg19	CCDS45955.1	.	.	.	.	.	.	.	.	.	.	g	10.46	1.356506	0.24598	.	.	ENSG00000237521	ENST00000456448	T	0.00551	6.65	2.39	2.39	0.29439	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00906	0.0030	M	0.80847	2.515	0.28275	N	0.924234	B	0.19706	0.038	B	0.16289	0.015	T	0.12293	-1.0553	9	0.66056	D	0.02	.	11.6917	0.51519	0.0:0.0:1.0:0.0	.	154	Q6IFN5	O7E24_HUMAN	I	154	ENSP00000387523:M154I	ENSP00000387523:M154I	M	+	3	0	OR7E24	9223181	0.999000	0.42202	0.492000	0.27490	0.028000	0.11728	2.571000	0.45990	1.353000	0.45828	0.436000	0.28706	ATG		0.443	OR7E24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449006.1			C	9362181	G	C	9362181	3	2	782	1	0	0	0	0	1	0	0	0	11223	1290	45	4	464	4	OR7E24	19	9362181	Missense_Mutation	SNP	G	TCGA-Q2-A5QZ-01A-11D-A28G-10		9362181	49766802	91	46355											
MAN2B1	4125	hgsc.bcm.edu	37	19	12760979	12760979	+	Missense_Mutation	SNP	G	G	A			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr19:12760979G>A	ENST00000456935.2	-	17	2144	c.2104C>T	c.(2104-2106)Cgc>Tgc	p.R702C	CTD-2192J16.22_ENST00000597692.1_5'Flank|MAN2B1_ENST00000221363.4_Missense_Mutation_p.R701C	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	702					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						GGGTACAGGCGAACCACCTGG	0.627																																																0													132	111	118					19																	12760979		2203	4300	6503	SO:0001583	missense	4125				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.2104C>T	chr19.hg19:g.12760979G>A	ENSP00000395473:p.Arg702Cys		G5E928|O15330|Q16680|Q93094|Q9BW13	Missense_Mutation	SNP	ENST00000456935.2	hg19	CCDS32919.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.667589	0.88348	.	.	ENSG00000104774	ENST00000456935;ENST00000536796;ENST00000221363	D;D	0.86097	-2.07;-2.07	4.91	4.91	0.64330	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.45126	D	0.000392	D	0.94565	0.8249	H	0.95328	3.655	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95872	0.8892	10	0.87932	D	0	-28.1246	15.638	0.76970	0.0:0.0:1.0:0.0	.	701;702	G5E928;O00754	.;MA2B1_HUMAN	C	702;641;701	ENSP00000395473:R702C;ENSP00000221363:R701C	ENSP00000221363:R701C	R	-	1	0	MAN2B1	12621979	1.000000	0.71417	0.999000	0.59377	0.834000	0.47266	7.042000	0.76565	2.564000	0.86499	0.555000	0.69702	CGC		0.627	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344062.1			A	12760979	G	A	12760979	3	1	782	1	0	0	0	0	1	0	0	0	9218	1058	37	1	963	1	MAN2B1	19	12760979	Missense_Mutation	SNP	G	TCGA-Q2-A5QZ-01A-11D-A28G-10	3398798	12760979	46368004	92	46356											
ZNF571	51276	hgsc.bcm.edu	37	19	38056037	38056037	+	Silent	SNP	G	G	A			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr19:38056037G>A	ENST00000328550.2	-	4	1392	c.1293C>T	c.(1291-1293)ggC>ggT	p.G431G	ZNF571-AS1_ENST00000589802.1_RNA|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571-AS1_ENST00000586139.1_RNA|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571_ENST00000451802.2_Silent_p.G431G|ZNF571_ENST00000593133.1_Silent_p.G431G|ZNF571_ENST00000358744.3_Silent_p.G431G|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571-AS1_ENST00000591430.1_RNA			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	431					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)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TAAGTTGTTTGCCACAAATAA	0.363																																																0													48	52	51					19																	38056037		2203	4299	6502	SO:0001819	synonymous_variant	51276			AF161544	CCDS12505.1	19q13.12	2013-09-20			ENSG00000180479	ENSG00000180479		"Zinc fingers, C2H2-type", "-"	25000	protein-coding gene	gene with protein product						11042152	Standard	XM_005258977		Approved	HSPC059	uc002ogt.3	Q7Z3V5	OTTHUMG00000182016	ENST00000328550.2:c.1293C>T	chr19.hg19:g.38056037G>A			Q2HIY0|Q3ZCU3|Q9NZX7	Silent	SNP	ENST00000328550.2	hg19	CCDS12505.1																																																																																				0.363	ZNF571-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458669.1	NM_016536		A	38056037	G	A	38056037	2	1	782	1	0	0	0	0	0	0	0	1	18008	1306	46	2		2	ZNF571	19	38056037	Silent	SNP	G	TCGA-Q2-A5QZ-01A-11D-A28G-10	25295058	38056037	21072946	93	46357											
B9D2	80776	hgsc.bcm.edu	37	19	41869392	41869392	+	Frame_Shift_Del	DEL	T	T	-	rs2241714	byFrequency	TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr19:41869392delT	ENST00000243578.3	-	2	252	c.33delA	c.(31-33)atafs	p.I11fs	TMEM91_ENST00000604123.1_Intron|TMEM91_ENST00000539627.1_Intron|B9D2_ENST00000601597.1_5'UTR|TMEM91_ENST00000413014.2_5'Flank|CTC-435M10.3_ENST00000604424.1_Intron	NM_030578.3	NP_085055.2	Q9BPU9	B9D2_HUMAN	B9 protein domain 2	11	B9. {ECO:0000255|PROSITE- ProRule:PRU00713}.		I -> M (in dbSNP:rs2241714). {ECO:0000269|PubMed:15489334, ECO:0000269|Ref.2}.		cilium assembly (GO:0042384)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|TCTN-B9D complex (GO:0036038)	gamma-tubulin binding (GO:0043015)			large_intestine(1)|ovary(1)	2						CGCTGGCCCCTATGATCTGCC	0.537																																																0													69	58	62					19																	41869392		2203	4300	6503	SO:0001589	frameshift_variant	80776			BC004157	CCDS12579.1	19q13.2	2014-01-28				ENSG00000123810			28636	protein-coding gene	gene with protein product		611951				21763481	Standard	NM_030578		Approved	MGC4093, MKS10	uc002oqj.2	Q9BPU9		ENST00000243578.3:c.33delA	chr19.hg19:g.41869392delT	ENSP00000243578:p.Ile11fs			Frame_Shift_Del	DEL	ENST00000243578.3	hg19	CCDS12579.1																																																																																				0.537	B9D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463489.1	NM_030578		-	41869392	T	-	41869392	7	5	782	1	0	1	0	1	0	0	0	0	1278	1512	53	0	506	0	B9D2	19	41869392	Frame_Shift_Del	DEL	T	TCGA-Q2-A5QZ-01A-11D-A28G-10	3813355	41869392	17259591	94	46358											
GLTSCR1	29998	hgsc.bcm.edu	37	19	48183862	48183862	+	Missense_Mutation	SNP	G	G	C			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr19:48183862G>C	ENST00000396720.3	+	6	1629	c.1435G>C	c.(1435-1437)Gcg>Ccg	p.A479P	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	479										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)		TGGCGCCCCGGCGGTCCAGCT	0.692																																																0													16	21	19					19																	48183862		2061	4175	6236	SO:0001583	missense	29998			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.1435G>C	chr19.hg19:g.48183862G>C	ENSP00000379946:p.Ala479Pro		A8MW01	Missense_Mutation	SNP	ENST00000396720.3	hg19	CCDS46134.1	.	.	.	.	.	.	.	.	.	.	G	2.717	-0.267452	0.05754	.	.	ENSG00000063169	ENST00000396720	T	0.38722	1.12	4.7	-0.598	0.11649	.	.	.	.	.	T	0.40862	0.1134	L	0.38531	1.155	0.27198	N	0.960237	D	0.53885	0.963	P	0.56042	0.79	T	0.32295	-0.9912	9	0.31617	T	0.26	.	6.572	0.22543	0.2611:0.0:0.6073:0.1316	.	479	Q9NZM4	GSCR1_HUMAN	P	479	ENSP00000379946:A479P	ENSP00000379946:A479P	A	+	1	0	GLTSCR1	52875674	0.160000	0.22878	0.002000	0.10522	0.054000	0.15201	0.417000	0.21214	0.077000	0.16863	0.491000	0.48974	GCG		0.692	GLTSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465846.1	NM_015711		C	48183862	G	C	48183862	3	2	782	1	0	0	0	0	1	0	0	0	6476	1203	42	4	1449	4	GLTSCR1	19	48183862	Missense_Mutation	SNP	G	TCGA-Q2-A5QZ-01A-11D-A28G-10	6314470	48183862	10945121	95	46359											
PRR12	57479	hgsc.bcm.edu	37	19	50100554	50100554	+	Missense_Mutation	SNP	G	G	A			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr19:50100554G>A	ENST00000418929.2	+	4	2974	c.2962G>A	c.(2962-2964)Gat>Aat	p.D988N		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)		CCCTGCTTATGATCCCTATGG	0.736																																																0													3	4	4					19																	50100554		1585	3699	5284	SO:0001583	missense	57479			AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"KIAA1205"	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.2962G>A	chr19.hg19:g.50100554G>A	ENSP00000394510:p.Asp988Asn		E9PB06|Q8N4J6	Missense_Mutation	SNP	ENST00000418929.2	hg19	CCDS46143.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.231566	0.39399	.	.	ENSG00000126464	ENST00000418929;ENST00000246798;ENST00000314734	T	0.24350	1.86	4.79	4.79	0.61399	.	0.000000	0.45126	D	0.000382	T	0.37571	0.1008	L	0.38175	1.15	0.45690	D	0.998604	D	0.89917	1.0	D	0.87578	0.998	T	0.03473	-1.1033	10	0.13108	T	0.6	-21.245	14.8476	0.70272	0.0:0.0:1.0:0.0	.	988	Q9ULL5-3	.	N	988;168;168	ENSP00000394510:D988N	ENSP00000246798:D168N	D	+	1	0	PRR12	54792366	0.986000	0.35501	0.979000	0.43373	0.599000	0.36880	2.157000	0.42320	2.476000	0.83614	0.491000	0.48974	GAT		0.736	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		A	50100554	G	A	50100554	3	1	782	1	0	0	0	0	1	0	0	0	12589	1290	45	2	2976	2	PRR12	19	50100554	Missense_Mutation	SNP	G	TCGA-Q2-A5QZ-01A-11D-A28G-10	1916692	50100554	9028429	96	46360											
GPR32	2854	hgsc.bcm.edu	37	19	51274070	51274070	+	Silent	SNP	T	T	C			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr19:51274070T>C	ENST00000270590.4	+	1	350	c.213T>C	c.(211-213)cgT>cgC	p.R71R		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	71					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)		CTGTCTTCCGTATGGCACGCA	0.572																																					Esophageal Squamous(113;152 1581 5732 15840 44398)											0													225	169	188					19																	51274070		2203	4300	6503	SO:0001819	synonymous_variant	2854			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.213T>C	chr19.hg19:g.51274070T>C			Q502U7|Q6NWS5	Silent	SNP	ENST00000270590.4	hg19	CCDS12801.1																																																																																				0.572	GPR32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465016.1			C	51274070	T	C	51274070	2	2	782	1	0	0	0	0	0	0	0	1	6690	1625	57	3		3	GPR32	19	51274070	Silent	SNP	T	TCGA-Q2-A5QZ-01A-11D-A28G-10	1173516	51274070	7854913	97	46361	500	2									
GPR32	2854	hgsc.bcm.edu	37	19	51274076	51274076	+	Silent	SNP	A	A	C			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr19:51274076A>C	ENST00000270590.4	+	1	356	c.219A>C	c.(217-219)gcA>gcC	p.A73A		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	73					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)		TCCGTATGGCACGCACGGTCT	0.572																																					Esophageal Squamous(113;152 1581 5732 15840 44398)											0													215	162	180					19																	51274076		2203	4300	6503	SO:0001819	synonymous_variant	2854			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.219A>C	chr19.hg19:g.51274076A>C			Q502U7|Q6NWS5	Silent	SNP	ENST00000270590.4	hg19	CCDS12801.1																																																																																				0.572	GPR32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465016.1			C	51274076	A	C	51274076	2	2	782	1	0	0	0	0	0	0	0	1	6690	146	6	5		5	GPR32	19	51274076	Silent	SNP	A	TCGA-Q2-A5QZ-01A-11D-A28G-10	6	51274076	7854907	98	46362	500	2									
GPR32	2854	hgsc.bcm.edu	37	19	51274184	51274184	+	Silent	SNP	C	C	T			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr19:51274184C>T	ENST00000270590.4	+	1	464	c.327C>T	c.(325-327)ctC>ctT	p.L109L		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	109					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)		AGTGGCTCCTCGGAGAGTGGG	0.527																																					Esophageal Squamous(113;152 1581 5732 15840 44398)											0													135	123	127					19																	51274184		2203	4300	6503	SO:0001819	synonymous_variant	2854			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.327C>T	chr19.hg19:g.51274184C>T			Q502U7|Q6NWS5	Silent	SNP	ENST00000270590.4	hg19	CCDS12801.1																																																																																				0.527	GPR32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465016.1			T	51274184	C	T	51274184	2	4	782	1	0	0	0	0	0	0	0	1	6690	871	31	1		1	GPR32	19	51274184	Silent	SNP	C	TCGA-Q2-A5QZ-01A-11D-A28G-10	108	51274184	7854799	99	46363											
LRRN4	164312	hgsc.bcm.edu	37	20	6033147	6033147	+	Missense_Mutation	SNP	T	T	C			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr20:6033147T>C	ENST00000378858.4	-	2	523	c.299A>G	c.(298-300)cAg>cGg	p.Q100R		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	100					long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						CACCTGCAGCTGCTCCAGGTG	0.731																																																0													6	8	7					20																	6033147		2113	4185	6298	SO:0001583	missense	164312			AL118505	CCDS13097.1	20p12.3	2013-02-11	2008-05-20	2008-05-20	ENSG00000125872	ENSG00000125872		"Fibronectin type III domain containing"	16208	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 75"	C20orf75		15870286	Standard	NM_152611		Approved	dJ1056H1.1, NLRR4	uc002wmo.3	Q8WUT4	OTTHUMG00000031825	ENST00000378858.4:c.299A>G	chr20.hg19:g.6033147T>C	ENSP00000368135:p.Gln100Arg		A8K258|Q5JWV6|Q9H419	Missense_Mutation	SNP	ENST00000378858.4	hg19	CCDS13097.1	.	.	.	.	.	.	.	.	.	.	T	1.702	-0.501239	0.04261	.	.	ENSG00000125872	ENST00000378858	T	0.04406	3.63	5.37	0.364	0.16124	.	0.918843	0.09178	N	0.837822	T	0.02970	0.0088	N	0.16233	0.39	0.18873	N	0.999982	B;B	0.06786	0.001;0.001	B;B	0.04013	0.0;0.001	T	0.48399	-0.9039	10	0.25751	T	0.34	-6.0721	4.5538	0.12126	0.2133:0.256:0.0:0.5307	.	100;100	Q6ZMD1;Q8WUT4	.;LRRN4_HUMAN	R	100	ENSP00000368135:Q100R	ENSP00000368135:Q100R	Q	-	2	0	LRRN4	5981147	0.002000	0.14202	0.402000	0.26371	0.002000	0.02628	-0.227000	0.09126	-0.136000	0.11475	-0.516000	0.04426	CAG		0.731	LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077907.2	NM_152611		C	6033147	T	C	6033147	3	2	782	1	0	0	0	0	1	0	0	0	9039	1580	55	3	1939	3	LRRN4	20	6033147	Missense_Mutation	SNP	T	TCGA-Q2-A5QZ-01A-11D-A28G-10		6033147	56992373	100	46364											
ARFGAP1	55738	hgsc.bcm.edu	37	20	61918934	61918934	+	Missense_Mutation	SNP	T	T	G			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr20:61918934T>G	ENST00000370283.4	+	13	1070	c.930T>G	c.(928-930)agT>agG	p.S310R	ARFGAP1_ENST00000353546.3_Missense_Mutation_p.S318R|ARFGAP1_ENST00000519604.1_Missense_Mutation_p.S265R|ARFGAP1_ENST00000519273.2_Missense_Mutation_p.S197R|ARFGAP1_ENST00000370275.4_Missense_Mutation_p.V390G|ARFGAP1_ENST00000547204.1_Missense_Mutation_p.S244R|MIR4326_ENST00000582203.1_RNA|ARFGAP1_ENST00000518794.2_3'UTR	NM_018209.2	NP_060679.1	Q8N6T3	ARFG1_HUMAN	ADP-ribosylation factor GTPase activating protein 1	310					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|COPI coating of Golgi vesicle (GO:0048205)|endoplasmic reticulum unfolded protein response (GO:0030968)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cytosol (GO:0005829)|Golgi-associated vesicle membrane (GO:0030660)|synapse (GO:0045202)	ARF GTPase activator activity (GO:0008060)|GTPase activator activity (GO:0005096)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13	all_cancers(38;1.59e-09)					AGGGCCACAGTTATCAGAACA	0.542																																																0													44	45	44					20																	61918934		2201	4299	6500	SO:0001583	missense	55738			AK001629	CCDS13515.1, CCDS13516.1, CCDS63326.1, CCDS63327.1, CCDS63328.1	20q13.33	2009-11-30	2002-08-20	2002-08-23	ENSG00000101199	ENSG00000101199		"ADP-ribosylation factor GTPase activating proteins"	15852	protein-coding gene	gene with protein product		608377	"ADP-ribosylation factor 1 GTPase activating protein"	ARF1GAP		11210549	Standard	NM_018209		Approved	FLJ10767, bA261N11.3	uc002yel.3	Q8N6T3	OTTHUMG00000032965	ENST00000370283.4:c.930T>G	chr20.hg19:g.61918934T>G	ENSP00000359306:p.Ser310Arg		B7Z3U0|B7Z8H8|B7ZBI3|E1P5I9|E7EV62|Q6PK71|Q96KC4|Q96T02|Q9NSU3|Q9NVF6|Q9UIL0	Missense_Mutation	SNP	ENST00000370283.4	hg19	CCDS13515.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.23|13.23	2.173905|2.173905	0.38413|0.38413	.|.	.|.	ENSG00000101199|ENSG00000101199	ENST00000370283;ENST00000547204;ENST00000549047;ENST00000523460;ENST00000519604;ENST00000519273;ENST00000353546|ENST00000370275	T;T;T;T;T;T|T	0.50001|0.38560	1.39;0.77;0.85;0.78;0.76;1.41|1.13	4.81|4.81	-0.361|-0.361	0.12564|0.12564	.|.	0.782541|.	0.12772|.	N|.	0.440467|.	T|T	0.36663|0.36663	0.0975|0.0975	L|L	0.60455|0.60455	1.87|1.87	0.49798|0.49798	D|D	0.999824|0.999824	D;D;P;P|B	0.60160|0.26318	0.958;0.987;0.859;0.913|0.146	P;P;P;P|B	0.57960|0.24974	0.663;0.83;0.556;0.742|0.057	T|T	0.33548|0.33548	-0.9864|-0.9864	10|9	0.32370|0.87932	T|D	0.25|0	-9.8078|-9.8078	9.7438|9.7438	0.40435|0.40435	0.0:0.6144:0.0:0.3856|0.0:0.6144:0.0:0.3856	.|.	197;265;310;318|390	B7Z8H8;E7EV62;Q8N6T3;Q8N6T3-2|B7ZBI2	.;.;ARFG1_HUMAN;.|.	R|G	310;244;236;66;265;197;318|390	ENSP00000359306:S310R;ENSP00000449800:S244R;ENSP00000447037:S236R;ENSP00000430500:S265R;ENSP00000443716:S197R;ENSP00000314615:S318R|ENSP00000359298:V390G	ENSP00000314615:S318R|ENSP00000359298:V390G	S|V	+|+	3|2	2|0	ARFGAP1|ARFGAP1	61389379|61389379	1.000000|1.000000	0.71417|0.71417	0.316000|0.316000	0.25252|0.25252	0.180000|0.180000	0.23129|0.23129	1.634000|1.634000	0.37123|0.37123	0.106000|0.106000	0.17784|0.17784	0.379000|0.379000	0.24179|0.24179	AGT|GTT		0.542	ARFGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080134.3	NM_018209		G	61918934	T	G	61918934	3	3	782	1	0	0	0	0	1	0	0	0	849	1722	60	5	1010	5	ARFGAP1	20	61918934	Missense_Mutation	SNP	T	TCGA-Q2-A5QZ-01A-11D-A28G-10	55885787	61918934	1106586	101	46365											
PRIC285	85441	hgsc.bcm.edu	37	20	62197379	62197379	+	Silent	SNP	G	G	A			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr20:62197379G>A	ENST00000467148.1	-	8	2865	c.2796C>T	c.(2794-2796)atC>atT	p.I932I	HELZ2_ENST00000427522.2_Silent_p.I363I	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	932	Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										CGCACTCACGGATGAAGCTCT	0.701																																																0													16	16	16					20																	62197379		2174	4285	6459	SO:0001819	synonymous_variant	85441			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.2796C>T	chr20.hg19:g.62197379G>A			Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	ENST00000467148.1	hg19	CCDS33508.1																																																																																				0.701	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		A	62197379	G	A	62197379	2	1	782	1	0	0	0	0	0	0	0	1	12490	1164	41	2		2	PRIC285	20	62197379	Silent	SNP	G	TCGA-Q2-A5QZ-01A-11D-A28G-10	278445	62197379	828141	102	46366											
ADAMTS5	11096	hgsc.bcm.edu	37	21	28338045	28338045	+	Silent	SNP	A	A	T	rs369445782	byFrequency	TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr21:28338045A>T	ENST00000284987.5	-	1	787	c.666T>A	c.(664-666)gcT>gcA	p.A222A		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	222					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						TGTGCGCCGGAGCATGCTCGT	0.716													A|||	4	0.000798722	0.0023	0.0	5008	,	,		14660	0.0		0.001	False		,,,				2504	0.0				Esophageal Squamous(53;683 1080 10100 14424 45938)											0								A		15,4337		0,15,2161	9	12	11		666	-4.4	0	21		11	2,8476		0,2,4237	no	coding-synonymous	ADAMTS5	NM_007038.3		0,17,6398	TT,TA,AA		0.0236,0.3447,0.1325		222/931	28338045	17,12813	2176	4239	6415	SO:0001819	synonymous_variant	11096			AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"ADAM metallopeptidases with thrombospondin type 1 motif"	221	protein-coding gene	gene with protein product	"aggrecanase-2"	605007	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.666T>A	chr21.hg19:g.28338045A>T			Q52LV4|Q9UKP2	Silent	SNP	ENST00000284987.5	hg19	CCDS13579.1																																																																																				0.716	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			T	28338045	A	T	28338045	2	4	782	1	0	0	0	0	0	0	0	1	269	291	11	5		5	ADAMTS5	21	28338045	Silent	SNP	A	TCGA-Q2-A5QZ-01A-11D-A28G-10		28338045	19791850	103	46367											
TTC3	7267	hgsc.bcm.edu	37	21	38519809	38519809	+	Missense_Mutation	SNP	G	G	A			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr21:38519809G>A	ENST00000399017.2	+	22	4669	c.1922G>A	c.(1921-1923)tGc>tAc	p.C641Y	TTC3_ENST00000540756.1_Missense_Mutation_p.C331Y|TTC3_ENST00000355666.1_Missense_Mutation_p.C641Y|TTC3_ENST00000354749.2_Missense_Mutation_p.C641Y|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	641					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)				GTTGAAGAATGCAAGTTCCCT	0.323																																					Ovarian(38;194 1649 35661)											0													111	108	109					21																	38519809		2203	4300	6503	SO:0001583	missense	7267			D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"RING-type (C3HC4) zinc fingers", "Tetratricopeptide (TTC) repeat domain containing"	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.1922G>A	chr21.hg19:g.38519809G>A	ENSP00000381981:p.Cys641Tyr		A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	ENST00000399017.2	hg19	CCDS13651.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.0|20.0	3.930568|3.930568	0.73327|0.73327	.|.	.|.	ENSG00000182670|ENSG00000182670	ENST00000414818|ENST00000418766;ENST00000450533;ENST00000438055;ENST00000355666;ENST00000540756;ENST00000399017;ENST00000354749	.|T;T;T;T;T;T;T	.|0.53640	.|2.42;0.66;2.43;2.72;0.61;2.72;2.72	4.88|4.88	4.88|4.88	0.63580|0.63580	.|.	.|0.294582	.|0.30020	.|N	.|0.010617	T|T	0.57227|0.57227	0.2039|0.2039	N|N	0.20986|0.20986	0.625|0.625	0.58432|0.58432	D|D	0.999993|0.999993	.|D;D	.|0.76494	.|0.998;0.999	.|D;D	.|0.83275	.|0.994;0.996	T|T	0.63589|0.63589	-0.6603|-0.6603	5|10	.|0.87932	.|D	.|0	-11.1008|-11.1008	17.997|17.997	0.89187|0.89187	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|331;641	.|B4DSZ9;P53804	.|.;TTC3_HUMAN	T|Y	39|641;641;623;641;331;641;641	.|ENSP00000403943:C641Y;ENSP00000408456:C641Y;ENSP00000391891:C623Y;ENSP00000347889:C641Y;ENSP00000442875:C331Y;ENSP00000381981:C641Y;ENSP00000346791:C641Y	.|ENSP00000346791:C641Y	A|C	+|+	1|2	0|0	TTC3|TTC3	37441679|37441679	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.969000|0.969000	0.65631|0.65631	7.912000|7.912000	0.87465|0.87465	2.409000|2.409000	0.81822|0.81822	0.650000|0.650000	0.86243|0.86243	GCA|TGC		0.323	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1			A	38519809	G	A	38519809	3	1	782	1	0	0	0	0	1	0	0	0	16702	1319	46	2	2004	2	TTC3	21	38519809	Missense_Mutation	SNP	G	TCGA-Q2-A5QZ-01A-11D-A28G-10	10181764	38519809	9610086	104	46368											
PRDM15	63977	hgsc.bcm.edu	37	21	43221434	43221434	+	Missense_Mutation	SNP	G	G	A	rs147616045		TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chr21:43221434G>A	ENST00000269844.3	-	31	4600	c.4490C>T	c.(4489-4491)gCg>gTg	p.A1497V	PRDM15_ENST00000398548.1_Missense_Mutation_p.A1168V|PRDM15_ENST00000447207.2_Missense_Mutation_p.A1131V|PRDM15_ENST00000538201.1_Missense_Mutation_p.A1151V|PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000422911.1_Missense_Mutation_p.A1188V	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	1497					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						CTGCTGCTCCGCCTGCACCTG	0.637													g|||	1	0.000199681	0.0008	0.0	5008	,	,		15122	0.0		0.0	False		,,,				2504	0.0															0									VAL/ALA,VAL/ALA	5,4369		0,5,2182	33	38	36		3503,4490	3.7	0	21	dbSNP_134	36	2,8498		0,2,4248	yes	missense,missense	PRDM15	NM_001040424.1,NM_022115.3	64,64	0,7,6430	AA,AG,GG		0.0235,0.1143,0.0544	possibly-damaging,possibly-damaging	1168/1179,1497/1508	43221434	7,12867	2187	4250	6437	SO:0001583	missense	63977			AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"Zinc fingers, C2H2-type"	13999	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 83"	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.4490C>T	chr21.hg19:g.43221434G>A	ENSP00000269844:p.Ala1497Val		E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	ENST00000269844.3	hg19	CCDS13676.1	.	.	.	.	.	.	.	.	.	.	g	13.53	2.264687	0.40095	0.001143	2.35E-4	ENSG00000141956	ENST00000422911;ENST00000398548;ENST00000538201;ENST00000447207;ENST00000269844	T;T;T;T;T	0.08546	3.16;3.17;3.17;3.16;3.08	4.56	3.65	0.41850	.	.	.	.	.	T	0.04952	0.0133	N	0.14661	0.345	0.09310	N	1	P;B;B	0.35226	0.491;0.043;0.043	B;B;B	0.22753	0.041;0.012;0.007	T	0.33420	-0.9869	9	0.72032	D	0.01	-4.2914	10.8161	0.46575	0.0:0.0:0.6437:0.3563	.	1497;1188;1168	P57071;E9PDJ6;E9PF37	PRD15_HUMAN;.;.	V	1188;1168;1151;1131;1497	ENSP00000408592:A1188V;ENSP00000381556:A1168V;ENSP00000444044:A1151V;ENSP00000390245:A1131V;ENSP00000269844:A1497V	ENSP00000269844:A1497V	A	-	2	0	PRDM15	42094503	0.050000	0.20438	0.003000	0.11579	0.735000	0.41995	2.502000	0.45398	0.847000	0.35167	0.558000	0.71614	GCG		0.637	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115		A	43221434	G	A	43221434	3	1	782	1	0	0	0	0	1	0	0	0	12461	1087	38	1	37	1	PRDM15	21	43221434	Missense_Mutation	SNP	G	TCGA-Q2-A5QZ-01A-11D-A28G-10	4701625	43221434	4908461	105	46369											
PRPS2	5634	hgsc.bcm.edu	37	X	12840843	12840843	+	Missense_Mutation	SNP	C	C	G			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chrX:12840843C>G	ENST00000380668.5	+	7	1013	c.885C>G	c.(883-885)atC>atG	p.I295M	PRPS2_ENST00000398491.2_Missense_Mutation_p.I298M	NM_001039091.2|NM_002765.4	NP_001034180.1|NP_002756.1	P11908	PRPS2_HUMAN	phosphoribosyl pyrophosphate synthetase 2	295					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|AMP biosynthetic process (GO:0006167)|nucleobase-containing compound metabolic process (GO:0006139)|organ regeneration (GO:0031100)	extracellular vesicular exosome (GO:0070062)|ribose phosphate diphosphokinase complex (GO:0002189)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|carbohydrate binding (GO:0030246)|GDP binding (GO:0019003)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						TTTCCATGATCTTGGCCGAAG	0.453																																																0													174	117	136					X																	12840843		2203	4300	6503	SO:0001583	missense	5634			Y00971	CCDS14150.1, CCDS43918.1	Xp22.2	2012-10-02			ENSG00000101911	ENSG00000101911	2.7.6.1		9465	protein-coding gene	gene with protein product	"PRS II", "ribose-phosphate diphosphokinase 2"	311860				1962753	Standard	NM_002765		Approved		uc004cva.3	P11908	OTTHUMG00000021139	ENST00000380668.5:c.885C>G	chrX.hg19:g.12840843C>G	ENSP00000370043:p.Ile295Met		Q0VDH9|Q0VDI0|Q15245|Q2TAK7	Missense_Mutation	SNP	ENST00000380668.5	hg19	CCDS14150.1	.	.	.	.	.	.	.	.	.	.	C	11.17	1.559940	0.27827	.	.	ENSG00000101911	ENST00000380668;ENST00000398491;ENST00000461630;ENST00000460220	T;T;T	0.73363	-0.74;-0.74;-0.74	5.12	-0.0434	0.13859	.	0.000000	0.85682	D	0.000000	T	0.58018	0.2093	N	0.25485	0.75	0.80722	D	1	B;B	0.20164	0.042;0.012	B;B	0.37451	0.25;0.238	T	0.21586	-1.0241	10	0.12103	T	0.63	-23.1539	4.2961	0.10902	0.2341:0.3845:0.0:0.3814	.	295;298	P11908;P11908-2	PRPS2_HUMAN;.	M	295;298;150;127	ENSP00000370043:I295M;ENSP00000381504:I298M;ENSP00000418911:I150M	ENSP00000370043:I295M	I	+	3	3	PRPS2	12750764	0.945000	0.32115	0.987000	0.45799	0.993000	0.82548	0.139000	0.16036	0.131000	0.18576	0.513000	0.50165	ATC		0.453	PRPS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055772.2	NM_002765		G	12840843	C	G	12840843	3	3	782	1	0	0	0	0	1	0	0	0	12585	903	32	4	920	4	PRPS2	23	12840843	Missense_Mutation	SNP	C	TCGA-Q2-A5QZ-01A-11D-A28G-10		12840843	142429717	106	46370											
PHKA2	5256	hgsc.bcm.edu	37	X	18919658	18919658	+	Missense_Mutation	SNP	C	C	A			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chrX:18919658C>A	ENST00000379942.4	-	27	3637	c.2972G>T	c.(2971-2973)gGa>gTa	p.G991V		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	991					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)					TTTGGTGACTCCGGTATGGCC	0.547																																																0													180	139	153					X																	18919658		2203	4300	6503	SO:0001583	missense	5256				CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.2972G>T	chrX.hg19:g.18919658C>A	ENSP00000369274:p.Gly991Val		A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP	ENST00000379942.4	hg19	CCDS14190.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.573963	0.86542	.	.	ENSG00000044446	ENST00000379942	D	0.90955	-2.76	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.94798	0.8320	M	0.67953	2.075	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	D	0.93740	0.7049	10	0.41790	T	0.15	-16.0545	19.5104	0.95139	0.0:1.0:0.0:0.0	.	991	P46019	KPB2_HUMAN	V	991	ENSP00000369274:G991V	ENSP00000369274:G991V	G	-	2	0	PHKA2	18829579	1.000000	0.71417	0.996000	0.52242	0.959000	0.62525	7.400000	0.79949	2.562000	0.86427	0.600000	0.82982	GGA		0.547	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292		A	18919658	C	A	18919658	3	1	782	1	0	0	0	0	1	0	0	0	11846	855	30	4	763	4	PHKA2	23	18919658	Missense_Mutation	SNP	C	TCGA-Q2-A5QZ-01A-11D-A28G-10	6078815	18919658	136350902	107	46371											
BRWD3	254065	hgsc.bcm.edu	37	X	80001213	80001213	+	Missense_Mutation	SNP	G	G	A			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chrX:80001213G>A	ENST00000373275.4	-	7	662	c.446C>T	c.(445-447)gCc>gTc	p.A149V		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	149					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						TAATTGCCTGGCAGAGGTGAT	0.343																																																0													36	33	34					X																	80001213		2203	4298	6501	SO:0001583	missense	254065				CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"WD repeat domain containing"	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.446C>T	chrX.hg19:g.80001213G>A	ENSP00000362372:p.Ala149Val		C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	hg19	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.873392	0.91664	.	.	ENSG00000165288	ENST00000373275	T	0.29397	1.57	4.96	4.08	0.47627	.	0.065291	0.64402	D	0.000010	T	0.46580	0.1400	M	0.64997	1.995	0.49798	D	0.999826	D	0.67145	0.996	P	0.57911	0.829	T	0.42832	-0.9428	9	.	.	.	-1.3369	14.4752	0.67541	0.0:0.144:0.856:0.0	.	149	Q6RI45	BRWD3_HUMAN	V	149	ENSP00000362372:A149V	.	A	-	2	0	BRWD3	79887869	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.170000	0.64990	1.065000	0.40693	0.544000	0.68410	GCC		0.343	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		A	80001213	G	A	80001213	3	1	782	1	0	0	0	0	1	0	0	0	1528	1203	42	2	5102	2	BRWD3	23	80001213	Missense_Mutation	SNP	G	TCGA-Q2-A5QZ-01A-11D-A28G-10	61081555	80001213	75269347	108	46372											
GPR112	139378	hgsc.bcm.edu	37	X	135475736	135475737	+	Frame_Shift_Ins	INS	-	-	AAAAT			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chrX:135475736_135475737insAAAAT	ENST00000394143.1	+	18	8368_8369	c.8077_8078insAAAAT	c.(8077-8079)aatfs	p.-2692fs	GPR112_ENST00000370652.1_Frame_Shift_Ins_p.-2692fs|GPR112_ENST00000412101.1_Frame_Shift_Ins_p.-2487fs|GPR112_ENST00000287534.4_Frame_Shift_Ins_p.-2445fs|GPR112_ENST00000394141.1_Frame_Shift_Ins_p.-2487fs	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112						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)					TTTTGAGAATAATAGTAAGTAT	0.371																																																0																																										SO:0001589	frameshift_variant	139378			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	Exception_encountered	chrX.hg19:g.135475736_135475737insAAAAT	ENSP00000377699:p.Asn2692fs		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Frame_Shift_Ins	INS	ENST00000394143.1	hg19	CCDS35409.1																																																																																				0.371	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			AAAAT	135475737	-	AAAAT	135475736	7	5	782	1	0	1	1	0	0	0	0	0	6631	362	13	0	8135	0	GPR112	23	135475736	Frame_Shift_Ins	INS	-	TCGA-Q2-A5QZ-01A-11D-A28G-10	55474523	135475736	19794824	109	46373											
GABRQ	55879	hgsc.bcm.edu	37	X	151808889	151808890	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-Q2-A5QZ-01A-11D-A28G-10	TCGA-Q2-A5QZ-10A-01D-A28G-10	TG	TG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b249fd0e-a8a3-4d18-b3a2-16901434f261	1b6d1224-f192-4682-9d71-3c30ffcd4589	g.chrX:151808889_151808890delTG	ENST00000370306.2	+	2	220_221	c.200_201delTG	c.(199-201)ctgfs	p.L67fs		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	67					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GACAGGGTGCTGTCAAGATACG	0.47																																																0																																										SO:0001589	frameshift_variant	55879			U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	14454	protein-coding gene	gene with protein product	"GABA(A) receptor, theta"	300349	"gamma-aminobutyric acid (GABA) receptor, theta"			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.200_201delTG	chrX.hg19:g.151808889_151808890delTG	ENSP00000359329:p.Leu67fs		A6NFN1|Q32MB4|Q9NZK8	Frame_Shift_Del	DEL	ENST00000370306.2	hg19	CCDS14707.1																																																																																				0.47	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058763.2	NM_018558		-	151808890	TG	-	151808889	7	5	782	1	0	1	0	1	0	0	0	0	6177	1580	55	0	206	0	GABRQ	23	151808889	Frame_Shift_Del	DEL	TG	TCGA-Q2-A5QZ-01A-11D-A28G-10	16333153	151808889	3461671	110	46374											
MASP2	10747	hgsc.bcm.edu	37	1	11090277	11090277	+	Missense_Mutation	SNP	C	C	G			TCGA-SX-A71R-01A-12D-A33Q-10	TCGA-SX-A71R-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c23b8a50-fec8-4f6d-86be-42ae4bb3feee	25cf82fb-bcef-43f2-866b-078527b0881a	g.chr1:11090277C>G	ENST00000400897.3	-	10	1268	c.1253G>C	c.(1252-1254)tGg>tCg	p.W418S	RP4-635E18.8_ENST00000607145.1_RNA	NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	418	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|complement component C4b binding (GO:0001855)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		GGAGCTCGTCCAGAATCCATC	0.408																																					GBM(35;611 746 20780 22741 36496)											0													131	126	128					1																	11090277		2203	4300	6503	SO:0001583	missense	10747			X98400	CCDS123.1, CCDS124.1	1p36.3-p36.2	2014-09-17	2005-08-17		ENSG00000009724	ENSG00000009724			6902	protein-coding gene	gene with protein product		605102	"mannan-binding lectin serine protease 2", "mannan-binding lectin serine peptidase 1 pseudogene 1", "mannan-binding lectin serine protease 1 pseudogene 1"	MASP1P1		9087411, 9777418	Standard	NM_006610		Approved		uc001aru.3	O00187	OTTHUMG00000002121	ENST00000400897.3:c.1253G>C	chr1.hg19:g.11090277C>G	ENSP00000383690:p.Trp418Ser		A8K458|A8MWJ2|O75754|Q5TEQ5|Q5TER0|Q96QG4|Q9BZH0|Q9H498|Q9H499|Q9UBP3|Q9UC48|Q9ULC7|Q9UMV3|Q9Y270	Missense_Mutation	SNP	ENST00000400897.3	hg19	CCDS123.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.771585	0.69992	.	.	ENSG00000009724	ENST00000400897	D	0.91068	-2.78	5.63	5.63	0.86233	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	D	0.97111	0.9056	H	0.96048	3.76	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.97998	1.0358	10	0.87932	D	0	.	19.2809	0.94052	0.0:1.0:0.0:0.0	.	418	O00187	MASP2_HUMAN	S	418	ENSP00000383690:W418S	ENSP00000383690:W418S	W	-	2	0	MASP2	11012864	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.095000	0.64529	2.660000	0.90430	0.655000	0.94253	TGG		0.408	MASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006072.1	NM_006610		G	11090277	C	G	11090277	3	3	783	1	0	0	0	0	1	0	0	0	9325	595	21	4	815	4	MASP2	1	11090277	Missense_Mutation	SNP	C	TCGA-SX-A71R-01A-12D-A33Q-10		11090277	238160344	1	46375											
CACNA1E	777	hgsc.bcm.edu	37	1	181695257	181695258	+	Frame_Shift_Ins	INS	-	-	GAGGTCA			TCGA-SX-A71R-01A-12D-A33Q-10	TCGA-SX-A71R-10A-01D-A33Q-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c23b8a50-fec8-4f6d-86be-42ae4bb3feee	25cf82fb-bcef-43f2-866b-078527b0881a	g.chr1:181695257_181695258insGAGGTCA	ENST00000367573.2	+	18	2199_2200	c.2199_2200insGAGGTCA	c.(2200-2202)gagfs	p.-734fs	CACNA1E_ENST00000526775.1_Frame_Shift_Ins_p.-734fs|CACNA1E_ENST00000357570.5_Frame_Shift_Ins_p.-685fs|CACNA1E_ENST00000367570.1_Frame_Shift_Ins_p.-734fs|CACNA1E_ENST00000367567.4_Frame_Shift_Ins_p.-341fs|CACNA1E_ENST00000360108.3_Frame_Shift_Ins_p.-734fs|CACNA1E_ENST00000358338.5_Frame_Shift_Ins_p.-685fs	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit						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						AGAAGGCCAAGGAGGTCAGCCC	0.54																																																0																																										SO:0001589	frameshift_variant	777			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.2200_2206dupGAGGTCA	chr1.hg19:g.181695258_181695264dupGAGGTCA	ENSP00000356545:p.Glu734fs		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Frame_Shift_Ins	INS	ENST00000367573.2	hg19	CCDS55664.1																																																																																				0.54	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		GAGGTCA	181695258	-	GAGGTCA	181695257	7	5	783	1	0	1	1	0	0	0	0	0	2544	991	35	0	2269	0	CACNA1E	1	181695257	Frame_Shift_Ins	INS	-	TCGA-SX-A71R-01A-12D-A33Q-10	170604980	181695257	67555364	2	46376											
KCNT2	343450	hgsc.bcm.edu	37	1	196288615	196288615	+	Splice_Site	SNP	T	T	G			TCGA-SX-A71R-01A-12D-A33Q-10	TCGA-SX-A71R-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c23b8a50-fec8-4f6d-86be-42ae4bb3feee	25cf82fb-bcef-43f2-866b-078527b0881a	g.chr1:196288615T>G	ENST00000294725.9	-	20	3262	c.2347A>C	c.(2347-2349)Aac>Cac	p.N783H	KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000498426.1_Intron|KCNT2_ENST00000367431.4_Intron|KCNT2_ENST00000609185.1_Intron|KCNT2_ENST00000367433.5_Intron			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	783					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						GTCACCTACTTGTCAATAGAG	0.418																																																0													136	120	125					1																	196288615		2203	4300	6503	SO:0001630	splice_region_variant	343450			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.2348+1A>C	chr1.hg19:g.196288615T>G			Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	hg19	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	T	18.02	3.530130	0.64860	.	.	ENSG00000162687	ENST00000294725	T	0.75704	-0.96	5.83	5.83	0.93111	.	0.000000	0.64402	D	0.000002	D	0.83589	0.5287	M	0.72118	2.19	0.80722	D	1	D	0.65815	0.995	P	0.61800	0.894	T	0.83023	-0.0166	10	0.37606	T	0.19	-21.4942	16.1894	0.81975	0.0:0.0:0.0:1.0	.	783	Q6UVM3	KCNT2_HUMAN	H	783	ENSP00000294725:N783H	ENSP00000294725:N783H	N	-	1	0	KCNT2	194555238	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.826000	0.86716	2.222000	0.72286	0.477000	0.44152	AAC		0.418	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503	Missense_Mutation	G	196288615	T	G	196288615	5	3	783	1	0	0	0	0	0	0	1	0	8094	1826	63	5	1096	5	KCNT2	1	196288615	Splice_Site	SNP	T	TCGA-SX-A71R-01A-12D-A33Q-10	14593358	196288615	52962006	3	46377											
DENND1B	163486	hgsc.bcm.edu	37	1	197479793	197479793	+	IGR	SNP	G	G	A			TCGA-SX-A71R-01A-12D-A33Q-10	TCGA-SX-A71R-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c23b8a50-fec8-4f6d-86be-42ae4bb3feee	25cf82fb-bcef-43f2-866b-078527b0881a	g.chr1:197479793G>A								CRB1 (32208 upstream) : DENND1B (41591 downstream)																							TCTGAAATCTGGCTTAGTGTT	0.448																																																0													142	127	132					1																	197479793		2203	4300	6503	SO:0001628	intergenic_variant	163486																															chr1.hg19:g.197479793G>A				Nonsense_Mutation	SNP		hg19		.	.	.	.	.	.	.	.	.	.	G	11.20	1.569014	0.28003	.	.	ENSG00000213047	ENST00000391979;ENST00000542760;ENST00000450419	.	.	.	5.43	4.49	0.54785	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	9.2796	0.37720	0.0:0.1314:0.6622:0.2063	.	.	.	.	X	349;709;689	.	ENSP00000375839:Q349X	Q	-	1	0	DENND1B	195746416	1.000000	0.71417	0.378000	0.26068	0.024000	0.10985	2.407000	0.44565	1.377000	0.46286	0.563000	0.77884	CAG	0	0.448									A	197479793	G	A	197479793	1	1	783	0	1	0	0	0	0	0	0	0	4429	1357	47	2		2	DENND1B	1	197479793	IGR	SNP	G	TCGA-SX-A71R-01A-12D-A33Q-10	1191178	197479793	51770828	4	46378											
NRXN1	9378	hgsc.bcm.edu	37	2	50280612	50280612	+	Missense_Mutation	SNP	T	T	G	rs201877761		TCGA-SX-A71R-01A-12D-A33Q-10	TCGA-SX-A71R-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c23b8a50-fec8-4f6d-86be-42ae4bb3feee	25cf82fb-bcef-43f2-866b-078527b0881a	g.chr2:50280612T>G	ENST00000406316.2	-	20	5311	c.3835A>C	c.(3835-3837)Aat>Cat	p.N1279H	NRXN1_ENST00000406859.3_Missense_Mutation_p.N1279H|NRXN1_ENST00000401710.1_Missense_Mutation_p.N297H|NRXN1_ENST00000405472.3_Missense_Mutation_p.N1301H|NRXN1_ENST00000404971.1_Missense_Mutation_p.N1349H|NRXN1_ENST00000401669.2_Missense_Mutation_p.N1309H|NRXN1_ENST00000342183.5_Missense_Mutation_p.N244H|NRXN1_ENST00000402717.3_Missense_Mutation_p.N1301H	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1279	Laminin G-like 6. {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)			GCTGCCATATTCAGAACTTTC	0.507																																																0													97	89	92					2																	50280612		2203	4300	6503	SO:0001583	missense	9378			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.3835A>C	chr2.hg19:g.50280612T>G	ENSP00000384311:p.Asn1279His		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	hg19	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	T	14.56	2.572415	0.45798	.	.	ENSG00000179915	ENST00000342183;ENST00000536347;ENST00000401710;ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T;T;T	0.71579	0.89;2.14;0.13;0.11;-0.58;-0.46;-0.17;-0.03	5.65	5.65	0.86999	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.093114	0.39687	U	0.001295	T	0.79822	0.4512	M	0.73962	2.25	0.39056	D	0.960425	B;D;P;P	0.59357	0.367;0.985;0.566;0.502	B;P;P;B	0.53518	0.246;0.712;0.728;0.261	D	0.84151	0.0423	10	0.87932	D	0	.	15.8691	0.79098	0.0:0.0:0.0:1.0	.	1349;244;1279;1301	Q9ULB1-3;P58400;F8WB18;A7E294	.;NRX1B_HUMAN;.;.	H	244;198;297;1349;1279;1301;1309;1350;1301;1279	ENSP00000341184:N244H;ENSP00000385580:N297H;ENSP00000385142:N1349H;ENSP00000384311:N1279H;ENSP00000434015:N1301H;ENSP00000385017:N1309H;ENSP00000385434:N1301H;ENSP00000385681:N1279H	ENSP00000341184:N244H	N	-	1	0	NRXN1	50134116	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.186000	0.72026	2.151000	0.67156	0.533000	0.62120	AAT		0.507	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			G	50280612	T	G	50280612	3	3	783	1	0	0	0	0	1	0	0	0	10667	1783	62	5	610	5	NRXN1	2	50280612	Missense_Mutation	SNP	T	TCGA-SX-A71R-01A-12D-A33Q-10		50280612	192918761	5	46379											
SPTBN1	6711	hgsc.bcm.edu	37	2	54884994	54884994	+	Frame_Shift_Del	DEL	G	G	-			TCGA-SX-A71R-01A-12D-A33Q-10	TCGA-SX-A71R-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c23b8a50-fec8-4f6d-86be-42ae4bb3feee	25cf82fb-bcef-43f2-866b-078527b0881a	g.chr2:54884994delG	ENST00000356805.4	+	30	6335	c.6054delG	c.(6052-6054)gagfs	p.E2018fs	SPTBN1_ENST00000333896.5_Frame_Shift_Del_p.E2005fs	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	2018	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)			CAGTTCTGGAGGTCCATCAGT	0.592											OREG0014619	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													67	61	63					2																	54884994		2203	4300	6503	SO:0001589	frameshift_variant	6711				CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"Pleckstrin homology (PH) domain containing"	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.6054delG	chr2.hg19:g.54884994delG	ENSP00000349259:p.Glu2018fs	1003	B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Frame_Shift_Del	DEL	ENST00000356805.4	hg19	CCDS33198.1																																																																																				0.592	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			-	54884994	G	-	54884994	7	5	783	1	0	1	0	1	0	0	0	0	15124	991	35	0	6281	0	SPTBN1	2	54884994	Frame_Shift_Del	DEL	G	TCGA-SX-A71R-01A-12D-A33Q-10	4604382	54884994	188314379	6	46380											
KCNH8	131096	hgsc.bcm.edu	37	3	19479828	19479828	+	Silent	SNP	C	C	T			TCGA-SX-A71R-01A-12D-A33Q-10	TCGA-SX-A71R-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c23b8a50-fec8-4f6d-86be-42ae4bb3feee	25cf82fb-bcef-43f2-866b-078527b0881a	g.chr3:19479828C>T	ENST00000328405.2	+	8	1616	c.1350C>T	c.(1348-1350)ttC>ttT	p.F450F	KCNH8_ENST00000537696.1_Silent_p.F91F	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	450					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						AAAAGATCTTCTCCATCTGCA	0.473																																					NSCLC(124;1625 1765 8018 24930 42026)											0													74	66	69					3																	19479828		2203	4300	6503	SO:0001819	synonymous_variant	131096			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.1350C>T	chr3.hg19:g.19479828C>T			B7Z2I7|Q59GQ6	Silent	SNP	ENST00000328405.2	hg19	CCDS2632.1																																																																																				0.473	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633		T	19479828	C	T	19479828	2	4	783	1	0	0	0	0	0	0	0	1	8040	912	32	2		2	KCNH8	3	19479828	Silent	SNP	C	TCGA-SX-A71R-01A-12D-A33Q-10		19479828	178542602	7	46381											
SLC4A7	9497	hgsc.bcm.edu	37	3	27477880	27477880	+	Splice_Site	SNP	T	T	C			TCGA-SX-A71R-01A-12D-A33Q-10	TCGA-SX-A71R-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c23b8a50-fec8-4f6d-86be-42ae4bb3feee	25cf82fb-bcef-43f2-866b-078527b0881a	g.chr3:27477880T>C	ENST00000295736.5	-	5	631	c.561A>G	c.(559-561)gcA>gcG	p.A187A	SLC4A7_ENST00000435667.2_Splice_Site_p.A196A|SLC4A7_ENST00000437179.1_Splice_Site_p.A192A|SLC4A7_ENST00000446700.1_Splice_Site_p.A192A|SLC4A7_ENST00000440156.1_Splice_Site_p.A196A|SLC4A7_ENST00000445684.1_Splice_Site_p.A196A|SLC4A7_ENST00000425128.2_Splice_Site_p.A192A|SLC4A7_ENST00000454389.1_Splice_Site_p.A196A|SLC4A7_ENST00000428386.1_Splice_Site_p.A187A|SLC4A7_ENST00000455077.1_Splice_Site_p.A192A|SLC4A7_ENST00000388777.4_5'UTR	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	187					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)	TACTATAACCTGCTATTTCAT	0.373																																																0													76	74	74					3																	27477880		2203	4300	6503	SO:0001630	splice_region_variant	9497			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.562+1A>G	chr3.hg19:g.27477880T>C			A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Silent	SNP	ENST00000295736.5	hg19	CCDS33721.1																																																																																				0.373	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615	Silent	C	27477880	T	C	27477880	5	2	783	1	0	0	0	0	0	0	1	0	14664	1594	55	3	3167	3	SLC4A7	3	27477880	Splice_Site	SNP	T	TCGA-SX-A71R-01A-12D-A33Q-10	7998052	27477880	170544550	8	46382											
VEPH1	79674	hgsc.bcm.edu	37	3	157081265	157081265	+	Missense_Mutation	SNP	T	T	C			TCGA-SX-A71R-01A-12D-A33Q-10	TCGA-SX-A71R-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c23b8a50-fec8-4f6d-86be-42ae4bb3feee	25cf82fb-bcef-43f2-866b-078527b0881a	g.chr3:157081265T>C	ENST00000362010.2	-	9	1930	c.1623A>G	c.(1621-1623)atA>atG	p.I541M	VEPH1_ENST00000392833.2_Missense_Mutation_p.I541M|VEPH1_ENST00000543418.1_Missense_Mutation_p.I541M|RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000392832.2_Missense_Mutation_p.I541M	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	541						plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			CTTGGTATTCTATAGGACTTG	0.363																																																0													152	159	157					3																	157081265		2203	4300	6503	SO:0001583	missense	79674			AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"Pleckstrin homology (PH) domain containing"	25735	protein-coding gene	gene with protein product		609594	"ventricular zone expressed PH domain homolog 1 (zebrafish)"			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.1623A>G	chr3.hg19:g.157081265T>C	ENSP00000354919:p.Ile541Met		D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Missense_Mutation	SNP	ENST00000362010.2	hg19	CCDS3179.1	.	.	.	.	.	.	.	.	.	.	T	10.23	1.291609	0.23564	.	.	ENSG00000197415	ENST00000392833;ENST00000362010;ENST00000543418;ENST00000392832	T;T;T;T	0.08458	3.09;3.09;3.09;3.09	5.5	-4.25	0.03766	.	1.486880	0.03948	N	0.287996	T	0.05456	0.0144	N	0.14661	0.345	0.43708	D	0.996171	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.003	T	0.23511	-1.0186	10	0.44086	T	0.13	-14.1107	8.4805	0.33040	0.1087:0.5:0.0:0.3913	.	541;541	Q14D04-2;Q14D04	.;MELT_HUMAN	M	541	ENSP00000376578:I541M;ENSP00000354919:I541M;ENSP00000446258:I541M;ENSP00000376577:I541M	ENSP00000354919:I541M	I	-	3	3	VEPH1	158563959	0.000000	0.05858	0.016000	0.15963	0.611000	0.37282	-0.300000	0.08243	-0.666000	0.05310	0.533000	0.62120	ATA		0.363	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	NM_024621		C	157081265	T	C	157081265	3	2	783	1	0	0	0	0	1	0	0	0	17159	1512	53	3	902	3	VEPH1	3	157081265	Missense_Mutation	SNP	T	TCGA-SX-A71R-01A-12D-A33Q-10	129603385	157081265	40941165	9	46383											
HNRNPD	3184	hgsc.bcm.edu	37	4	83279841	83279841	+	Missense_Mutation	SNP	T	T	C			TCGA-SX-A71R-01A-12D-A33Q-10	TCGA-SX-A71R-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c23b8a50-fec8-4f6d-86be-42ae4bb3feee	25cf82fb-bcef-43f2-866b-078527b0881a	g.chr4:83279841T>C	ENST00000313899.7	-	4	869	c.592A>G	c.(592-594)Ata>Gta	p.I198V	HNRNPD_ENST00000541060.1_Missense_Mutation_p.I44V|HNRNPD_ENST00000543098.1_Missense_Mutation_p.I146V|HNRNPD_ENST00000353341.4_Missense_Mutation_p.I198V|HNRNPD_ENST00000508119.1_5'Flank|HNRNPD_ENST00000352301.4_Missense_Mutation_p.I179V	NM_031370.2	NP_112738.1	Q14103	HNRPD_HUMAN	heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)	198	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				circadian regulation of translation (GO:0097167)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|regulation of circadian rhythm (GO:0042752)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						TACTCCCTTATTTTCTCTTCA	0.378																																																0													89	94	92					4																	83279841		2203	4300	6503	SO:0001583	missense	3184			AF026126	CCDS3590.1, CCDS3591.1, CCDS3592.1	4q21	2013-02-12	2002-08-29	2008-04-18	ENSG00000138668	ENSG00000138668		"RNA binding motif (RRM) containing"	5036	protein-coding gene	gene with protein product		601324	"heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA-binding protein 1, 37kD)"	AUF1, HNRPD		9615222	Standard	NM_001003810		Approved		uc003hmm.1	Q14103	OTTHUMG00000130290	ENST00000313899.7:c.592A>G	chr4.hg19:g.83279841T>C	ENSP00000313199:p.Ile198Val		A8K9J2|P07029|Q01858|Q14100|Q14101|Q14102|Q4W5A1|Q9UCE8|Q9UCE9	Missense_Mutation	SNP	ENST00000313899.7	hg19	CCDS3592.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.992|8.992	0.977861|0.977861	0.18812|0.18812	.|.	.|.	ENSG00000138668|ENSG00000138668	ENST00000313899;ENST00000353341;ENST00000352301;ENST00000543098;ENST00000307213;ENST00000541060;ENST00000509263;ENST00000507010;ENST00000515432|ENST00000514671	T;T;T;T;T;T;T;T|.	0.18502|.	2.21;2.21;2.21;2.21;2.21;2.21;2.21;2.21|.	6.07|6.07	6.07|6.07	0.98685|0.98685	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);|.	0.042341|.	0.85682|.	D|.	0.000000|.	T|T	0.59838|0.59838	0.2223|0.2223	L|L	0.37630|0.37630	1.12|1.12	0.50467|0.50467	D|D	0.99987|0.99987	P;P;B;B|.	0.39964|.	0.697;0.697;0.112;0.136|.	B;B;B;B|.	0.44085|.	0.44;0.44;0.108;0.173|.	T|T	0.55425|0.55425	-0.8143|-0.8143	10|5	0.26408|.	T|.	0.33|.	.|.	16.6407|16.6407	0.85098|0.85098	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	179;198;179;198|.	Q14103-4;Q14103-3;Q14103-2;Q14103|.	.;.;.;HNRPD_HUMAN|.	V|S	198;198;179;146;173;44;131;198;100|101	ENSP00000313199:I198V;ENSP00000313327:I198V;ENSP00000305860:I179V;ENSP00000439380:I146V;ENSP00000437416:I44V;ENSP00000420926:I131V;ENSP00000421952:I198V;ENSP00000426666:I100V|.	ENSP00000307544:I173V|.	I|N	-|-	1|2	0|0	HNRNPD|HNRNPD	83498865|83498865	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.309000|0.309000	0.27889|0.27889	4.737000|4.737000	0.62066|0.62066	2.326000|2.326000	0.78906|0.78906	0.533000|0.533000	0.62120|0.62120	ATA|AAT		0.378	HNRNPD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252630.2	NM_031370		C	83279841	T	C	83279841	3	2	783	1	0	0	0	0	1	0	0	0	7266	1493	52	3	495	3	HNRNPD	4	83279841	Missense_Mutation	SNP	T	TCGA-SX-A71R-01A-12D-A33Q-10		83279841	107874435	10	46384											
HERC6	55008	hgsc.bcm.edu	37	4	89361148	89361148	+	Missense_Mutation	SNP	C	C	A			TCGA-SX-A71R-01A-12D-A33Q-10	TCGA-SX-A71R-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c23b8a50-fec8-4f6d-86be-42ae4bb3feee	25cf82fb-bcef-43f2-866b-078527b0881a	g.chr4:89361148C>A	ENST00000264346.7	+	21	2737	c.2678C>A	c.(2677-2679)cCt>cAt	p.P893H	HERC6_ENST00000380265.5_Missense_Mutation_p.P857H	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	893	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				hematopoietic progenitor cell differentiation (GO:0002244)|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)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		CATTTCTACCCTGAAGAACTA	0.363																																																0													70	64	66					4																	89361148		1828	4104	5932	SO:0001583	missense	55008			AF336798	CCDS47098.1, CCDS54777.1	4q22	2012-02-23	2012-02-23		ENSG00000138642	ENSG00000138642			26072	protein-coding gene	gene with protein product		609249	"hect domain and RLD 6"				Standard	NM_001165136		Approved	FLJ20637	uc011cdi.2	Q8IVU3	OTTHUMG00000160983	ENST00000264346.7:c.2678C>A	chr4.hg19:g.89361148C>A	ENSP00000264346:p.Pro893His		B4DIY5|Q5GC90|Q5GRH3|Q5HYM6|Q5JPB6|Q6PIF4|Q8NAN3|Q9NWS4	Missense_Mutation	SNP	ENST00000264346.7	hg19	CCDS47098.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.763291	0.49574	.	.	ENSG00000138642	ENST00000380265;ENST00000264346	T;T	0.50548	0.74;0.74	4.66	4.66	0.58398	HECT (4);	0.000000	0.64402	D	0.000012	T	0.72252	0.3437	M	0.86097	2.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.77734	-0.2477	10	0.87932	D	0	.	16.8302	0.85942	0.0:1.0:0.0:0.0	.	857;893	Q8IVU3-2;Q8IVU3	.;HERC6_HUMAN	H	857;893	ENSP00000369617:P857H;ENSP00000264346:P893H	ENSP00000264346:P893H	P	+	2	0	HERC6	89580171	1.000000	0.71417	0.891000	0.34965	0.024000	0.10985	6.932000	0.75869	2.581000	0.87130	0.585000	0.79938	CCT		0.363	HERC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363259.2			A	89361148	C	A	89361148	3	1	783	1	0	0	0	0	1	0	0	0	7064	681	24	4	2557	4	HERC6	4	89361148	Missense_Mutation	SNP	C	TCGA-SX-A71R-01A-12D-A33Q-10	6081307	89361148	101793128	11	46385											
DNAJC18	202052	hgsc.bcm.edu	37	5	138758461	138758461	+	Missense_Mutation	SNP	C	C	A			TCGA-SX-A71R-01A-12D-A33Q-10	TCGA-SX-A71R-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c23b8a50-fec8-4f6d-86be-42ae4bb3feee	25cf82fb-bcef-43f2-866b-078527b0881a	g.chr5:138758461C>A	ENST00000302060.5	-	6	795	c.715G>T	c.(715-717)Gtg>Ttg	p.V239L		NM_152686.3	NP_689899.1	Q9H819	DJC18_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 18	239						integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GATATAATCACAATCACAAGA	0.318																																																0													85	87	86					5																	138758461		2203	4300	6503	SO:0001583	missense	202052			AK024054	CCDS4214.1	5q31.2	2011-09-02		2005-08-09	ENSG00000170464	ENSG00000170464		"Heat shock proteins / DNAJ (HSP40)"	28429	protein-coding gene	gene with protein product							Standard	NM_152686		Approved	MGC29463	uc003len.3	Q9H819	OTTHUMG00000129225	ENST00000302060.5:c.715G>T	chr5.hg19:g.138758461C>A	ENSP00000302843:p.Val239Leu			Missense_Mutation	SNP	ENST00000302060.5	hg19	CCDS4214.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.10|18.10	3.547400|3.547400	0.65311|0.65311	.|.	.|.	ENSG00000170464|ENSG00000170464	ENST00000514052|ENST00000302060;ENST00000508445	.|T;T	.|0.55760	.|0.5;1.07	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	.|0.064922	.|0.64402	.|D	.|0.000004	T|T	0.30039|0.30039	0.0752|0.0752	N|N	0.25332|0.25332	0.735|0.735	0.52099|0.52099	D|D	0.999946|0.999946	.|P	.|0.43431	.|0.807	.|B	.|0.31495	.|0.131	T|T	0.12167|0.12167	-1.0558|-1.0558	5|10	.|0.12766	.|T	.|0.61	-13.8827|-13.8827	9.4781|9.4781	0.38884|0.38884	0.0:0.8512:0.0:0.1488|0.0:0.8512:0.0:0.1488	.|.	.|239	.|Q9H819	.|DJC18_HUMAN	F|L	30|239;72	.|ENSP00000302843:V239L;ENSP00000426338:V72L	.|ENSP00000302843:V239L	L|V	-|-	3|1	2|0	DNAJC18|DNAJC18	138786360|138786360	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.740000|3.740000	0.55082|0.55082	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	TTG|GTG		0.318	DNAJC18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374191.1	NM_152686		A	138758461	C	A	138758461	3	1	783	1	0	0	0	0	1	0	0	0	4639	478	17	4	373	4	DNAJC18	5	138758461	Missense_Mutation	SNP	C	TCGA-SX-A71R-01A-12D-A33Q-10		138758461	42156799	12	46386											
PCDHGA4	56111	hgsc.bcm.edu	37	5	140736033	140736033	+	Silent	SNP	A	A	T			TCGA-SX-A71R-01A-12D-A33Q-10	TCGA-SX-A71R-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c23b8a50-fec8-4f6d-86be-42ae4bb3feee	25cf82fb-bcef-43f2-866b-078527b0881a	g.chr5:140736033A>T	ENST00000571252.1	+	1	1266	c.1266A>T	c.(1264-1266)gtA>gtT	p.V422V	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	422	Cadherin 4. {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)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACATCACTGTAACTGCCACTG	0.433																																																0													55	57	57					5																	140736033		2042	4208	6250	SO:0001819	synonymous_variant	56111			AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.1266A>T	chr5.hg19:g.140736033A>T			Q9Y5D3	Silent	SNP	ENST00000571252.1	hg19	CCDS58979.1																																																																																				0.433	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	NM_018917		T	140736033	A	T	140736033	2	4	783	1	0	0	0	0	0	0	0	1	11558	349	13	5		5	PCDHGA4	5	140736033	Silent	SNP	A	TCGA-SX-A71R-01A-12D-A33Q-10	1977572	140736033	40179227	13	46387											
SKIV2L	6499	hgsc.bcm.edu	37	6	31932058	31932058	+	Missense_Mutation	SNP	G	G	A			TCGA-SX-A71R-01A-12D-A33Q-10	TCGA-SX-A71R-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c23b8a50-fec8-4f6d-86be-42ae4bb3feee	25cf82fb-bcef-43f2-866b-078527b0881a	g.chr6:31932058G>A	ENST00000375394.2	+	17	2023	c.1910G>A	c.(1909-1911)aGc>aAc	p.S637N	SKIV2L_ENST00000544581.1_Missense_Mutation_p.S444N	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	637	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						GTGCACCATAGCGGCATCCTG	0.597																																																0													115	87	97					6																	31932058		1511	2708	4219	SO:0001583	missense	6499				CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.1910G>A	chr6.hg19:g.31932058G>A	ENSP00000364543:p.Ser637Asn		O15005|Q12902|Q15476|Q5ST66	Missense_Mutation	SNP	ENST00000375394.2	hg19	CCDS4731.1	.	.	.	.	.	.	.	.	.	.	G	33	5.219357	0.95139	.	.	ENSG00000204351	ENST00000375394;ENST00000433155;ENST00000544581	T;T	0.43294	0.95;0.95	5.95	5.95	0.96441	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.66665	0.2812	M	0.86805	2.84	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.70662	-0.4810	10	0.72032	D	0.01	-16.4781	19.1568	0.93514	0.0:0.0:1.0:0.0	.	637	Q15477	SKIV2_HUMAN	N	637;479;444	ENSP00000364543:S637N;ENSP00000442645:S444N	ENSP00000364543:S637N	S	+	2	0	SKIV2L	32040037	1.000000	0.71417	0.979000	0.43373	0.967000	0.64934	8.574000	0.90763	2.825000	0.97269	0.655000	0.94253	AGC		0.597	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076264.3			A	31932058	G	A	31932058	3	1	783	1	0	0	0	0	1	0	0	0	14365	971	34	2	1976	2	SKIV2L	6	31932058	Missense_Mutation	SNP	G	TCGA-SX-A71R-01A-12D-A33Q-10		31932058	139183009	14	46388											
GSTA1	2938	hgsc.bcm.edu	37	6	52656735	52656735	+	Missense_Mutation	SNP	A	A	C			TCGA-SX-A71R-01A-12D-A33Q-10	TCGA-SX-A71R-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c23b8a50-fec8-4f6d-86be-42ae4bb3feee	25cf82fb-bcef-43f2-866b-078527b0881a	g.chr6:52656735A>C	ENST00000334575.5	-	7	745	c.590T>G	c.(589-591)tTt>tGt	p.F197C	GSTA1_ENST00000493331.1_5'UTR	NM_145740.3	NP_665683.1	P08263	GSTA1_HUMAN	glutathione S-transferase alpha 1	197	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)	AGGCTGTAGAAACTTCTTCAC	0.473																																																0													128	127	127					6																	52656735		2203	4300	6503	SO:0001583	missense	2938				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.590T>G	chr6.hg19:g.52656735A>C	ENSP00000335620:p.Phe197Cys		Q14750|Q5GHF8|Q5SZC1	Missense_Mutation	SNP	ENST00000334575.5	hg19	CCDS4945.1	.	.	.	.	.	.	.	.	.	.	.	11.55	1.671100	0.29693	.	.	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);	0.000000	0.85682	D	0.000000	T	0.30198	0.0757	H	0.94503	3.545	0.49582	D	0.999806	D	0.89917	1.0	D	0.97110	1.0	T	0.36359	-0.9751	10	0.87932	D	0	.	10.0672	0.42311	1.0:0.0:0.0:0.0	.	197	P08263	GSTA1_HUMAN	C	197	ENSP00000335620:F197C	ENSP00000335620:F197C	F	-	2	0	GSTA1	52764694	1.000000	0.71417	0.986000	0.45419	0.165000	0.22458	5.795000	0.69074	0.868000	0.35678	0.172000	0.16884	TTT		0.473	GSTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040922.1			C	52656735	A	C	52656735	3	2	783	1	0	0	0	0	1	0	0	0	6832	14	1	5	82	5	GSTA1	6	52656735	Missense_Mutation	SNP	A	TCGA-SX-A71R-01A-12D-A33Q-10	20724677	52656735	118458332	15	46389											
HBS1L	10767	hgsc.bcm.edu	37	6	135358073	135358073	+	Intron	SNP	C	C	T			TCGA-SX-A71R-01A-12D-A33Q-10	TCGA-SX-A71R-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c23b8a50-fec8-4f6d-86be-42ae4bb3feee	25cf82fb-bcef-43f2-866b-078527b0881a	g.chr6:135358073C>T	ENST00000367837.5	-	4	637				HBS1L_ENST00000367826.2_Intron|HBS1L_ENST00000314674.3_Intron|HBS1L_ENST00000415177.2_Intron|HBS1L_ENST00000367824.4_Intron|HBS1L_ENST00000367822.5_Missense_Mutation_p.D508N|HBS1L_ENST00000445176.2_Intron|HBS1L_ENST00000367820.2_Intron	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like translational GTPase						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)		ATGGATGGGTCTACTACAGGC	0.368																																																0													52	48	49					6																	135358073		692	1591	2283	SO:0001627	intron_variant	10767			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.430+2637G>A	chr6.hg19:g.135358073C>T			B7Z365|Q4VX89|Q4VX90|Q5T7G3|Q8NDW9|Q9UPW3	Missense_Mutation	SNP	ENST00000367837.5	hg19	CCDS5173.1	.	.	.	.	.	.	.	.	.	.	C	3.012	-0.203760	0.06180	.	.	ENSG00000112339	ENST00000367822	.	.	.	5.32	3.5	0.40072	.	.	.	.	.	T	0.21674	0.0522	.	.	.	0.24288	N	0.995175	B	0.12013	0.005	B	0.09377	0.004	T	0.32693	-0.9897	7	0.66056	D	0.02	.	12.4456	0.55649	0.0:0.8558:0.0:0.1442	.	508	Q9Y450-2	.	N	508	.	ENSP00000356796:D508N	D	-	1	0	HBS1L	135399766	0.002000	0.14202	0.020000	0.16555	0.158000	0.22134	0.745000	0.26259	1.373000	0.46208	0.655000	0.94253	GAC		0.368	HBS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042339.2			T	135358073	C	T	135358073	1	4	783	0	1	0	0	0	0	0	0	0	6989	913	32	2		2	HBS1L	6	135358073	Intron	SNP	C	TCGA-SX-A71R-01A-12D-A33Q-10	82701338	135358073	35756994	16	46390											
MRPL32	64983	hgsc.bcm.edu	37	7	42974719	42974719	+	Missense_Mutation	SNP	A	A	G			TCGA-SX-A71R-01A-12D-A33Q-10	TCGA-SX-A71R-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c23b8a50-fec8-4f6d-86be-42ae4bb3feee	25cf82fb-bcef-43f2-866b-078527b0881a	g.chr7:42974719A>G	ENST00000223324.2	+	2	483	c.296A>G	c.(295-297)aAg>aGg	p.K99R	MRPL32_ENST00000496564.1_3'UTR|PSMA2_ENST00000538645.1_5'Flank|PSMA2_ENST00000442788.1_5'Flank|PSMA2_ENST00000445517.1_5'Flank|PSMA2_ENST00000223321.4_5'Flank	NM_031903.2	NP_114109.1	Q9BYC8	RM32_HUMAN	mitochondrial ribosomal protein L32	99					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrial ribosome (GO:0005761)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10						AATCCGCAGAAGCTTATTAAA	0.403																																																0													75	72	73					7																	42974719		2203	4300	6503	SO:0001583	missense	64983			AB051343	CCDS5468.1	7p14	2012-09-13			ENSG00000106591	ENSG00000106591		"Mitochondrial ribosomal proteins / large subunits"	14035	protein-coding gene	gene with protein product		611839				11543634	Standard	NM_031903		Approved	HSPC283, L32mt, MRP-L32, bMRP-59b	uc003tia.3	Q9BYC8	OTTHUMG00000155180	ENST00000223324.2:c.296A>G	chr7.hg19:g.42974719A>G	ENSP00000223324:p.Lys99Arg		Q96Q68|Q9P098	Missense_Mutation	SNP	ENST00000223324.2	hg19	CCDS5468.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.249005	0.80024	.	.	ENSG00000106591	ENST00000223324	.	.	.	5.33	5.33	0.75918	.	0.181632	0.64402	D	0.000020	T	0.79233	0.4411	M	0.77712	2.385	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.81870	-0.0734	9	0.62326	D	0.03	-29.9723	15.3359	0.74255	1.0:0.0:0.0:0.0	.	99	Q9BYC8	RM32_HUMAN	R	99	.	ENSP00000223324:K99R	K	+	2	0	MRPL32	42941244	1.000000	0.71417	0.793000	0.32043	0.740000	0.42216	9.300000	0.96151	2.000000	0.58554	0.528000	0.53228	AAG		0.403	MRPL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338669.1	NM_031903		G	42974719	A	G	42974719	3	3	783	1	0	0	0	0	1	0	0	0	9797	72	3	3	302	3	MRPL32	7	42974719	Missense_Mutation	SNP	A	TCGA-SX-A71R-01A-12D-A33Q-10		42974719	116163944	17	46391											
EPHB6	2051	hgsc.bcm.edu	37	7	142562102	142562102	+	Missense_Mutation	SNP	G	G	A			TCGA-SX-A71R-01A-12D-A33Q-10	TCGA-SX-A71R-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c23b8a50-fec8-4f6d-86be-42ae4bb3feee	25cf82fb-bcef-43f2-866b-078527b0881a	g.chr7:142562102G>A	ENST00000392957.2	+	7	1331	c.544G>A	c.(544-546)Gga>Aga	p.G182R	EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Missense_Mutation_p.G182R	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	182	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)					GTGGGCTGTGGGACCCCACGG	0.622																																																0													106	126	119					7																	142562102		2201	4293	6494	SO:0001583	missense	2051			D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3396	protein-coding gene	gene with protein product		602757	"EphB6"				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.544G>A	chr7.hg19:g.142562102G>A	ENSP00000376684:p.Gly182Arg		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP	ENST00000392957.2	hg19	CCDS5873.2	.	.	.	.	.	.	.	.	.	.	G	16.30	3.084918	0.55861	.	.	ENSG00000106123	ENST00000392957;ENST00000442129	T;T	0.70045	-0.45;-0.45	5.24	5.24	0.73138	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.40302	N	0.001135	T	0.58807	0.2148	N	0.08118	0	0.80722	D	1	P	0.45672	0.864	P	0.52554	0.702	T	0.61535	-0.7043	10	0.39692	T	0.17	.	15.0592	0.71939	0.0:0.0:1.0:0.0	.	182	O15197	EPHB6_HUMAN	R	182	ENSP00000376684:G182R;ENSP00000410789:G182R	ENSP00000376684:G182R	G	+	1	0	EPHB6	142272224	0.903000	0.30736	0.871000	0.34182	0.427000	0.31564	0.820000	0.27323	2.837000	0.97791	0.655000	0.94253	GGA		0.622	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			A	142562102	G	A	142562102	3	1	783	1	0	0	0	0	1	0	0	0	5180	1233	43	2	554	2	EPHB6	7	142562102	Missense_Mutation	SNP	G	TCGA-SX-A71R-01A-12D-A33Q-10	99587383	142562102	16576561	18	46392											
RRAGA	54801	hgsc.bcm.edu	37	9	19050301	19050301	+	IGR	SNP	C	C	T			TCGA-SX-A71R-01A-12D-A33Q-10	TCGA-SX-A71R-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c23b8a50-fec8-4f6d-86be-42ae4bb3feee	25cf82fb-bcef-43f2-866b-078527b0881a	g.chr9:19050301C>T	ENST00000380502.3	-	0	6536				RRAGA_ENST00000380527.1_Missense_Mutation_p.S215F	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						TTGGTTATTTCCCACTACCAG	0.488																																																0													130	122	125					9																	19050301		2203	4300	6503	SO:0001628	intergenic_variant	10670			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		chr9.hg19:g.19050301C>T			B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Missense_Mutation	SNP	ENST00000380502.3	hg19	CCDS6489.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.970361	0.74246	.	.	ENSG00000155876	ENST00000380527	T	0.67171	-0.25	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	D	0.83894	0.5353	M	0.89095	3.005	0.80722	D	1	D	0.61080	0.989	D	0.71870	0.975	D	0.86791	0.1985	10	0.87932	D	0	-11.9386	16.0156	0.80439	0.0:1.0:0.0:0.0	.	215	Q7L523	RRAGA_HUMAN	F	215	ENSP00000369899:S215F	ENSP00000369899:S215F	S	+	2	0	RRAGA	19040301	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.104000	0.77024	2.735000	0.93741	0.655000	0.94253	TCC		0.488	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051825.1	NM_017645		T	19050301	C	T	19050301	1	4	783	0	1	0	0	0	0	0	0	0	13678	855	30	2		2	RRAGA	9	19050301	IGR	SNP	C	TCGA-SX-A71R-01A-12D-A33Q-10		19050301	122163130	19	46393											
FBP2	8789	hgsc.bcm.edu	37	9	97329630	97329630	+	Silent	SNP	A	A	T			TCGA-SX-A71R-01A-12D-A33Q-10	TCGA-SX-A71R-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c23b8a50-fec8-4f6d-86be-42ae4bb3feee	25cf82fb-bcef-43f2-866b-078527b0881a	g.chr9:97329630A>T	ENST00000375337.3	-	5	693	c.627T>A	c.(625-627)atT>atA	p.I209I	PCAT7_ENST00000452148.2_RNA	NM_003837.2	NP_003828.2	O00757	F16P2_HUMAN	fructose-1,6-bisphosphatase 2	209					carbohydrate metabolic process (GO:0005975)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	fructose 1,6-bisphosphate 1-phosphatase activity (GO:0042132)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(3)|lung(5)	9		Acute lymphoblastic leukemia(62;0.136)				TCAGGCTGTAAATCTTTCCTT	0.443																																																0													164	164	164					9																	97329630		2203	4300	6503	SO:0001819	synonymous_variant	8789			Y10812	CCDS6711.1	9q22.3	2012-08-13			ENSG00000130957	ENSG00000130957	3.1.3.11		3607	protein-coding gene	gene with protein product		603027				9678974	Standard	NM_003837		Approved		uc004auv.3	O00757	OTTHUMG00000020269	ENST00000375337.3:c.627T>A	chr9.hg19:g.97329630A>T			Q17R39|Q6FI53	Silent	SNP	ENST00000375337.3	hg19	CCDS6711.1																																																																																				0.443	FBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053189.1	NM_003837		T	97329630	A	T	97329630	2	4	783	1	0	0	0	0	0	0	0	1	5708	10	1	5		5	FBP2	9	97329630	Silent	SNP	A	TCGA-SX-A71R-01A-12D-A33Q-10	78279329	97329630	43883801	20	46394											
SWAP70	23075	hgsc.bcm.edu	37	11	9746244	9746244	+	Missense_Mutation	SNP	G	G	A			TCGA-SX-A71R-01A-12D-A33Q-10	TCGA-SX-A71R-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c23b8a50-fec8-4f6d-86be-42ae4bb3feee	25cf82fb-bcef-43f2-866b-078527b0881a	g.chr11:9746244G>A	ENST00000318950.6	+	4	557	c.454G>A	c.(454-456)Gga>Aga	p.G152R	SWAP70_ENST00000447399.2_Missense_Mutation_p.G94R	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN	SWAP switching B-cell complex 70kDa subunit	152					isotype switching (GO:0045190)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		AGCTATGGGAGGAGGTTGGCA	0.318																																																0													71	69	70					11																	9746244		2201	4294	6495	SO:0001583	missense	23075			AB014540	CCDS31426.1, CCDS73257.1	11p15	2013-01-10			ENSG00000133789	ENSG00000133789		"Pleckstrin homology (PH) domain containing", "EF-hand domain containing"	17070	protein-coding gene	gene with protein product		604762				9734811, 10681448	Standard	XM_005252829		Approved	KIAA0640, SWAP-70	uc001mhw.3	Q9UH65	OTTHUMG00000165865	ENST00000318950.6:c.454G>A	chr11.hg19:g.9746244G>A	ENSP00000315630:p.Gly152Arg		D3DQV1|O75135|Q7LCY6|Q9P061|Q9P0Z8	Missense_Mutation	SNP	ENST00000318950.6	hg19	CCDS31426.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.920223	0.33908	.	.	ENSG00000133789	ENST00000447399;ENST00000318950;ENST00000534662	T;T;T	0.11930	2.73;2.73;3.18	5.51	4.59	0.56863	.	0.108656	0.64402	D	0.000007	T	0.12390	0.0301	L	0.43152	1.355	0.40606	D	0.981623	P;P;P	0.39964	0.697;0.664;0.612	B;B;B	0.38655	0.276;0.278;0.091	T	0.10200	-1.0640	10	0.32370	T	0.25	-6.8811	9.8943	0.41309	0.0725:0.0:0.7885:0.139	.	94;152;94	E7EMB1;Q9UH65;B3KUB9	.;SWP70_HUMAN;.	R	94;152;3	ENSP00000399056:G94R;ENSP00000315630:G152R;ENSP00000435587:G3R	ENSP00000315630:G152R	G	+	1	0	SWAP70	9702820	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.623000	0.54224	1.313000	0.45069	0.467000	0.42956	GGA		0.318	SWAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386766.2	NM_015055		A	9746244	G	A	9746244	3	1	783	1	0	0	0	0	1	0	0	0	15430	1001	35	2	468	2	SWAP70	11	9746244	Missense_Mutation	SNP	G	TCGA-SX-A71R-01A-12D-A33Q-10		9746244	125260272	21	46395											
ARHGEF17	9828	hgsc.bcm.edu	37	11	73021391	73021391	+	Missense_Mutation	SNP	G	G	A			TCGA-SX-A71R-01A-12D-A33Q-10	TCGA-SX-A71R-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c23b8a50-fec8-4f6d-86be-42ae4bb3feee	25cf82fb-bcef-43f2-866b-078527b0881a	g.chr11:73021391G>A	ENST00000263674.3	+	1	2058	c.1708G>A	c.(1708-1710)Gag>Aag	p.E570K	RP11-800A3.7_ENST00000546324.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	570					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CAGCTCCTCCGAGCTCCTGCT	0.622																																																0													37	40	39					11																	73021391		2200	4293	6493	SO:0001583	missense	9828			AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"Rho guanine nucleotide exchange factors"	21726	protein-coding gene	gene with protein product	"Rho-specific guanine-nucleotide exchange factor 164 kDa", "tumor endothelial marker 4"					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.1708G>A	chr11.hg19:g.73021391G>A	ENSP00000263674:p.Glu570Lys		B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	ENST00000263674.3	hg19	CCDS8221.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.419170	0.83559	.	.	ENSG00000110237	ENST00000263674	T	0.62364	0.03	4.62	4.62	0.57501	.	0.082023	0.49305	D	0.000152	T	0.68412	0.2998	L	0.29908	0.895	0.41778	D	0.989808	D	0.89917	1.0	D	0.66351	0.943	T	0.73404	-0.3993	10	0.87932	D	0	-17.8299	16.1961	0.82025	0.0:0.0:1.0:0.0	.	570	Q96PE2	ARHGH_HUMAN	K	570	ENSP00000263674:E570K	ENSP00000263674:E570K	E	+	1	0	ARHGEF17	72699039	1.000000	0.71417	0.997000	0.53966	0.641000	0.38312	9.074000	0.93998	2.384000	0.81235	0.561000	0.74099	GAG		0.622	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		A	73021391	G	A	73021391	3	1	783	1	0	0	0	0	1	0	0	0	900	1059	37	1	1710	1	ARHGEF17	11	73021391	Missense_Mutation	SNP	G	TCGA-SX-A71R-01A-12D-A33Q-10	63275147	73021391	61985125	22	46396											
XRRA1	143570	hgsc.bcm.edu	37	11	74563097	74563097	+	Missense_Mutation	SNP	C	C	T			TCGA-SX-A71R-01A-12D-A33Q-10	TCGA-SX-A71R-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c23b8a50-fec8-4f6d-86be-42ae4bb3feee	25cf82fb-bcef-43f2-866b-078527b0881a	g.chr11:74563097C>T	ENST00000340360.6	-	13	1508	c.1177G>A	c.(1177-1179)Gct>Act	p.A393T	XRRA1_ENST00000321448.8_Missense_Mutation_p.A118T|XRRA1_ENST00000527087.1_Intron	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						GGGAAGAGAGCTACTGGTAGG	0.537																																																0													137	140	139					11																	74563097		2057	4183	6240	SO:0001583	missense	143570			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.1177G>A	chr11.hg19:g.74563097C>T	ENSP00000339918:p.Ala393Thr			Missense_Mutation	SNP	ENST00000340360.6	hg19	CCDS44680.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.908003	0.92107	.	.	ENSG00000166435	ENST00000340360;ENST00000321448;ENST00000344880;ENST00000398418	T;T	0.51817	1.83;0.69	6.07	6.07	0.98685	.	.	.	.	.	T	0.63558	0.2521	L	0.46614	1.455	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;0.999	D;D;D;D	0.87578	0.996;0.986;0.998;0.986	T	0.63363	-0.6654	9	0.87932	D	0	-7.6097	16.1526	0.81632	0.0:1.0:0.0:0.0	.	393;337;18;379	Q6P2D8;Q6P2D8-4;Q8TEH2;Q6P2D8-3	XRRA1_HUMAN;.;.;.	T	393;118;379;337	ENSP00000339918:A393T;ENSP00000319303:A118T	ENSP00000319303:A118T	A	-	1	0	XRRA1	74240745	1.000000	0.71417	0.988000	0.46212	0.716000	0.41182	4.186000	0.58337	2.890000	0.99128	0.585000	0.79938	GCT		0.537	XRRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384715.1	NM_182969		T	74563097	C	T	74563097	3	4	783	1	0	0	0	0	1	0	0	0	17466	797	28	2	1229	2	XRRA1	11	74563097	Missense_Mutation	SNP	C	TCGA-SX-A71R-01A-12D-A33Q-10	1541706	74563097	60443419	23	46397											
MAML2	84441	hgsc.bcm.edu	37	11	95826617	95826617	+	Frame_Shift_Del	DEL	T	T	-			TCGA-SX-A71R-01A-12D-A33Q-10	TCGA-SX-A71R-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c23b8a50-fec8-4f6d-86be-42ae4bb3feee	25cf82fb-bcef-43f2-866b-078527b0881a	g.chr11:95826617delT	ENST00000524717.1	-	2	1862	c.578delA	c.(577-579)aatfs	p.N193fs		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	193					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				CACAAAGCCATTGGGTCGCTT	0.418			T	"MECT1, CRTC3"	salivary gland mucoepidermoid																																		Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	0													106	100	102					11																	95826617		1855	4114	5969	SO:0001589	frameshift_variant	84441			AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"mastermind (Drosophila)-like 2"			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.578delA	chr11.hg19:g.95826617delT	ENSP00000434552:p.Asn193fs		A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Frame_Shift_Del	DEL	ENST00000524717.1	hg19	CCDS44714.1																																																																																				0.418	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1			-	95826617	T	-	95826617	7	5	783	1	0	1	0	1	0	0	0	0	9208	1493	52	0	2908	0	MAML2	11	95826617	Frame_Shift_Del	DEL	T	TCGA-SX-A71R-01A-12D-A33Q-10	21263520	95826617	39179899	24	46398											
PCSK7	9159	hgsc.bcm.edu	37	11	117097999	117097999	+	Missense_Mutation	SNP	C	C	T			TCGA-SX-A71R-01A-12D-A33Q-10	TCGA-SX-A71R-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c23b8a50-fec8-4f6d-86be-42ae4bb3feee	25cf82fb-bcef-43f2-866b-078527b0881a	g.chr11:117097999C>T	ENST00000320934.3	-	5	1273	c.643G>A	c.(643-645)Gac>Aac	p.D215N		NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	215	Peptidase S8.				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)		GGCATGGGGTCAGGGTCATTA	0.567			T	IGH@	MLCLS																																		Dom	yes		11	11q23.3	9159	proprotein convertase subtilisin/kexin type 7		L	0													111	109	110					11																	117097999		2201	4296	6497	SO:0001583	missense	9159			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.643G>A	chr11.hg19:g.117097999C>T	ENSP00000325917:p.Asp215Asn		B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57	Missense_Mutation	SNP	ENST00000320934.3	hg19	CCDS8382.1	.	.	.	.	.	.	.	.	.	.	C	36	5.694404	0.96793	.	.	ENSG00000160613	ENST00000320934;ENST00000543900;ENST00000525027	D;D	0.87103	-2.21;-2.21	5.61	5.61	0.85477	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	D	0.87621	0.6223	L	0.52126	1.63	0.80722	D	1	P	0.44139	0.827	P	0.45856	0.495	D	0.88316	0.2959	10	0.59425	D	0.04	-34.5595	18.6171	0.91306	0.0:1.0:0.0:0.0	.	215	Q16549	PCSK7_HUMAN	N	215	ENSP00000325917:D215N;ENSP00000431181:D215N	ENSP00000325917:D215N	D	-	1	0	PCSK7	116603209	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.633000	0.89246	0.655000	0.94253	GAC		0.567	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385529.2	NM_004716		T	117097999	C	T	117097999	3	4	783	1	0	0	0	0	1	0	0	0	11607	826	29	2	1766	2	PCSK7	11	117097999	Missense_Mutation	SNP	C	TCGA-SX-A71R-01A-12D-A33Q-10	21271382	117097999	17908517	25	46399											
BCDIN3D	144233	hgsc.bcm.edu	37	12	50232321	50232321	+	Silent	SNP	A	A	G			TCGA-SX-A71R-01A-12D-A33Q-10	TCGA-SX-A71R-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c23b8a50-fec8-4f6d-86be-42ae4bb3feee	25cf82fb-bcef-43f2-866b-078527b0881a	g.chr12:50232321A>G	ENST00000333924.4	-	2	753	c.712T>C	c.(712-714)Ttg>Ctg	p.L238L	BCDIN3D-AS1_ENST00000548872.1_RNA|BCDIN3D-AS1_ENST00000549124.1_RNA	NM_181708.2	NP_859059.1	Q7Z5W3	BN3D2_HUMAN	BCDIN3 domain containing	238	Bin3-type SAM. {ECO:0000255|PROSITE- ProRule:PRU00848}.				miRNA metabolic process (GO:0010586)|negative regulation of pre-miRNA processing (GO:2000632)|RNA methylation (GO:0001510)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	O-methyltransferase activity (GO:0008171)|RNA methyltransferase activity (GO:0008173)			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)	9						TCCTGGGTCAAGATCTGCACA	0.502																																																0													130	121	124					12																	50232321		2203	4300	6503	SO:0001819	synonymous_variant	144233				CCDS8790.1	12q13.13	2008-03-12				ENSG00000186666			27050	protein-coding gene	gene with protein product							Standard	NM_181708		Approved		uc001rvh.3	Q7Z5W3	OTTHUMG00000169807	ENST00000333924.4:c.712T>C	chr12.hg19:g.50232321A>G			A8K829	Silent	SNP	ENST00000333924.4	hg19	CCDS8790.1																																																																																				0.502	BCDIN3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405982.1	NM_181708		G	50232321	A	G	50232321	2	3	783	1	0	0	0	0	0	0	0	1	1357	69	3	3		3	BCDIN3D	12	50232321	Silent	SNP	A	TCGA-SX-A71R-01A-12D-A33Q-10		50232321	83619574	26	46400											
CCDC59	29080	hgsc.bcm.edu	37	12	82752072	82752072	+	Silent	SNP	C	C	T			TCGA-SX-A71R-01A-12D-A33Q-10	TCGA-SX-A71R-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c23b8a50-fec8-4f6d-86be-42ae4bb3feee	25cf82fb-bcef-43f2-866b-078527b0881a	g.chr12:82752072C>T	ENST00000256151.7	-	1	495	c.84G>A	c.(82-84)agG>agA	p.R28R	METTL25_ENST00000248306.3_5'Flank|CCDC59_ENST00000548126.1_Intron	NM_014167.4	NP_054886.2	Q9P031	TAP26_HUMAN	coiled-coil domain containing 59	28					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)	5						CATTCTTATTCCTGTACCCGA	0.587											OREG0022008	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													69	63	65					12																	82752072		2203	4300	6503	SO:0001819	synonymous_variant	29080			AF213377	CCDS9023.1	12q21.31	2007-10-17				ENSG00000133773			25005	protein-coding gene	gene with protein product						16630564, 12882447	Standard	NM_014167		Approved	HSPC128, TAP26, BR22	uc001szp.4	Q9P031		ENST00000256151.7:c.84G>A	chr12.hg19:g.82752072C>T		1216	Q9H2V5|Q9NW62	Silent	SNP	ENST00000256151.7	hg19	CCDS9023.1																																																																																				0.587	CCDC59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408186.1	NM_014167		T	82752072	C	T	82752072	2	4	783	1	0	0	0	0	0	0	0	1	2831	854	30	2		2	CCDC59	12	82752072	Silent	SNP	C	TCGA-SX-A71R-01A-12D-A33Q-10	32519751	82752072	51099823	27	46401											
RAN	5901	hgsc.bcm.edu	37	12	131360202	131360202	+	Missense_Mutation	SNP	T	T	G			TCGA-SX-A71R-01A-12D-A33Q-10	TCGA-SX-A71R-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c23b8a50-fec8-4f6d-86be-42ae4bb3feee	25cf82fb-bcef-43f2-866b-078527b0881a	g.chr12:131360202T>G	ENST00000543796.1	+	6	739	c.481T>G	c.(481-483)Ttc>Gtc	p.F161V	RAN_ENST00000254675.3_Missense_Mutation_p.F73V|RAN_ENST00000392369.2_Missense_Mutation_p.F161V|RAN_ENST00000541630.1_Missense_Mutation_p.F73V|RAN_ENST00000392367.3_Missense_Mutation_p.F178V			P62826	RAN_HUMAN	RAN, member RAS oncogene family	161					actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|cellular protein complex localization (GO:0034629)|DNA metabolic process (GO:0006259)|gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription, DNA-templated (GO:0045893)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	Lung NSC(355;7.46e-07)|all_epithelial(31;7.36e-06)		OV - Ovarian serous cystadenocarcinoma(86;9.18e-49)|Epithelial(86;1.42e-45)|all cancers(50;6.28e-40)		TGAAAAGCCCTTCCTCTGGCT	0.408																																																0													52	53	53					12																	131360202		2203	4300	6503	SO:0001583	missense	5901			M31469	CCDS9271.1, CCDS73546.1	12q24.33	2014-05-09			ENSG00000132341	ENSG00000132341			9846	protein-coding gene	gene with protein product		601179				8421051	Standard	XM_005253592		Approved	ARA24, TC4, Gsp1	uc001uir.3	P62826	OTTHUMG00000134328	ENST00000543796.1:c.481T>G	chr12.hg19:g.131360202T>G	ENSP00000446215:p.Phe161Val		A8K3Z8|P17080|P28746|P28747|Q6IPB2|Q86V08|Q8NI90|Q9CSP3|Q9CWI7|Q9CZA2|Q9UDJ5|Q9UEU9	Missense_Mutation	SNP	ENST00000543796.1	hg19	CCDS9271.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.415702	0.83449	.	.	ENSG00000132341	ENST00000543796;ENST00000448750;ENST00000541630;ENST00000392369;ENST00000254675;ENST00000535090;ENST00000392367	D;D;D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72	3.94	3.94	0.45596	.	0.000000	0.85682	D	0.000000	D	0.92136	0.7507	M	0.93594	3.435	0.80722	D	1	D;D	0.59767	0.986;0.986	D;D	0.66497	0.944;0.944	D	0.93640	0.6964	10	0.87932	D	0	-8.6508	12.2939	0.54833	0.0:0.0:0.0:1.0	.	161;161	A8K3Z8;P62826	.;RAN_HUMAN	V	161;179;73;161;73;157;178	ENSP00000446215:F161V;ENSP00000396127:F179V;ENSP00000441210:F73V;ENSP00000376176:F161V;ENSP00000254675:F73V;ENSP00000444042:F157V;ENSP00000376174:F178V	ENSP00000254675:F73V	F	+	1	0	RAN	129926155	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.590000	0.82653	1.554000	0.49487	0.460000	0.39030	TTC		0.408	RAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259441.2	NM_006325		G	131360202	T	G	131360202	3	3	783	1	0	0	0	0	1	0	0	0	13030	1609	56	5	499	5	RAN	12	131360202	Missense_Mutation	SNP	T	TCGA-SX-A71R-01A-12D-A33Q-10	48608130	131360202	2491693	28	46402											
CENPJ	55835	hgsc.bcm.edu	37	13	25486722	25486722	+	Nonsense_Mutation	SNP	G	G	A			TCGA-SX-A71R-01A-12D-A33Q-10	TCGA-SX-A71R-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c23b8a50-fec8-4f6d-86be-42ae4bb3feee	25cf82fb-bcef-43f2-866b-078527b0881a	g.chr13:25486722G>A	ENST00000381884.4	-	2	627	c.442C>T	c.(442-444)Cag>Tag	p.Q148*	CENPJ_ENST00000545981.1_Nonsense_Mutation_p.Q148*	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	148					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)		TATTGTACCTGTTCAAGTTTT	0.368																																																0													68	70	69					13																	25486722		2203	4300	6503	SO:0001587	stop_gained	55835			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.442C>T	chr13.hg19:g.25486722G>A	ENSP00000371308:p.Gln148*		Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Nonsense_Mutation	SNP	ENST00000381884.4	hg19	CCDS9310.1	.	.	.	.	.	.	.	.	.	.	G	38	6.752924	0.97813	.	.	ENSG00000151849	ENST00000381884;ENST00000545981;ENST00000445729	.	.	.	5.9	5.9	0.94986	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	17.1723	0.86833	0.0:0.0:1.0:0.0	.	.	.	.	X	148	.	ENSP00000371308:Q148X	Q	-	1	0	CENPJ	24384722	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.301000	0.72782	2.791000	0.96007	0.655000	0.94253	CAG		0.368	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	NM_018451		A	25486722	G	A	25486722	4	1	783	1	0	0	0	0	0	1	0	0	3236	1386	48	2	3638	2	CENPJ	13	25486722	Nonsense_Mutation	SNP	G	TCGA-SX-A71R-01A-12D-A33Q-10		25486722	89683156	29	46403											
CHD8	57680	hgsc.bcm.edu	37	14	21862288	21862288	+	Missense_Mutation	SNP	C	C	T			TCGA-SX-A71R-01A-12D-A33Q-10	TCGA-SX-A71R-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c23b8a50-fec8-4f6d-86be-42ae4bb3feee	25cf82fb-bcef-43f2-866b-078527b0881a	g.chr14:21862288C>T	ENST00000557364.1	-	32	5929	c.5666G>A	c.(5665-5667)cGt>cAt	p.R1889H	CHD8_ENST00000555962.1_5'Flank|CHD8_ENST00000430710.3_Missense_Mutation_p.R1610H|CHD8_ENST00000399982.2_Missense_Mutation_p.R1889H|SNORD9_ENST00000362566.1_RNA			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1889					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)		CAATTCTATACGGTAGAGAGT	0.512																																																0													51	50	50					14																	21862288		1868	4106	5974	SO:0001583	missense	57680			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.5666G>A	chr14.hg19:g.21862288C>T	ENSP00000451601:p.Arg1889His		Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	hg19	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.382302	0.82792	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	D;D;D	0.83335	-1.71;-1.71;-1.71	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.91868	0.7426	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92496	0.6004	10	0.87932	D	0	-13.5033	18.1345	0.89614	0.0:1.0:0.0:0.0	.	1610	Q9HCK8-2	.	H	1610;1889;1609;1889	ENSP00000406288:R1610H;ENSP00000382863:R1889H;ENSP00000451601:R1889H	ENSP00000262707:R1609H	R	-	2	0	CHD8	20932128	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.651000	0.83577	2.816000	0.96949	0.563000	0.77884	CGT		0.512	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		T	21862288	C	T	21862288	3	4	783	1	0	0	0	0	1	0	0	0	3333	536	19	1	2107	1	CHD8	14	21862288	Missense_Mutation	SNP	C	TCGA-SX-A71R-01A-12D-A33Q-10		21862288	85487252	30	46404											
STRN3	29966	hgsc.bcm.edu	37	14	31382758	31382758	+	Missense_Mutation	SNP	A	A	T			TCGA-SX-A71R-01A-12D-A33Q-10	TCGA-SX-A71R-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c23b8a50-fec8-4f6d-86be-42ae4bb3feee	25cf82fb-bcef-43f2-866b-078527b0881a	g.chr14:31382758A>T	ENST00000357479.5	-	10	1542	c.1346T>A	c.(1345-1347)gTa>gAa	p.V449E	STRN3_ENST00000366206.2_Intron|STRN3_ENST00000355683.5_Missense_Mutation_p.V365E	NM_001083893.1	NP_001077362.1	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	449					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|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)|response to estradiol (GO:0032355)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		ATCATTTGTTACCGTCAAGTC	0.343																																																0													96	89	91					14																	31382758		2203	4300	6503	SO:0001583	missense	29966				CCDS9641.1, CCDS41938.1	14q13-q21	2013-01-10			ENSG00000196792	ENSG00000196792		"WD repeat domain containing"	15720	protein-coding gene	gene with protein product	"cell cycle S/G2 nuclear autoantigen"	614766				7864889, 10681496	Standard	NM_014574		Approved	SG2NA	uc001wqu.2	Q13033	OTTHUMG00000140201	ENST00000357479.5:c.1346T>A	chr14.hg19:g.31382758A>T	ENSP00000350071:p.Val449Glu		A2RTX7|A6NHZ7|Q9NRA5	Missense_Mutation	SNP	ENST00000357479.5	hg19	CCDS41938.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.099076	0.76983	.	.	ENSG00000196792	ENST00000355683;ENST00000357479;ENST00000554991	T;T	0.64438	-0.1;2.37	5.97	4.84	0.62591	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.78591	0.4307	M	0.81682	2.555	0.80722	D	1	D;P	0.89917	1.0;0.931	D;B	0.77004	0.989;0.444	T	0.80756	-0.1240	10	0.87932	D	0	-15.1617	11.8795	0.52566	0.9324:0.0:0.0676:0.0	.	365;449	Q13033-2;Q13033	.;STRN3_HUMAN	E	365;449;130	ENSP00000347909:V365E;ENSP00000350071:V449E	ENSP00000347909:V365E	V	-	2	0	STRN3	30452509	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.639000	0.91023	1.097000	0.41459	0.533000	0.62120	GTA		0.343	STRN3-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409713.1	NM_014574		T	31382758	A	T	31382758	3	4	783	1	0	0	0	0	1	0	0	0	15335	391	14	5	1083	5	STRN3	14	31382758	Missense_Mutation	SNP	A	TCGA-SX-A71R-01A-12D-A33Q-10	9520470	31382758	75966782	31	46405											
TRPM1	4308	hgsc.bcm.edu	37	15	31327765	31327765	+	Nonsense_Mutation	SNP	A	A	T			TCGA-SX-A71R-01A-12D-A33Q-10	TCGA-SX-A71R-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c23b8a50-fec8-4f6d-86be-42ae4bb3feee	25cf82fb-bcef-43f2-866b-078527b0881a	g.chr15:31327765A>T	ENST00000256552.6	-	21	2831	c.2684T>A	c.(2683-2685)tTa>tAa	p.L895*	RP11-348B17.1_ENST00000558755.1_RNA|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000397795.2_Nonsense_Mutation_p.L873*|TRPM1_ENST00000542188.1_Nonsense_Mutation_p.L912*	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)		TATCTTCTCTAACGCCAGGCT	0.542																																																0													80	81	80					15																	31327765		2047	4192	6239	SO:0001587	stop_gained	4308			AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"Voltage-gated ion channels / Transient receptor potential cation channels"	7146	protein-coding gene	gene with protein product		603576	"melastatin 1"	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.2684T>A	chr15.hg19:g.31327765A>T	ENSP00000256552:p.Leu895*			Nonsense_Mutation	SNP	ENST00000256552.6	hg19	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	A	37	6.205158	0.97376	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	.	.	.	5.57	5.57	0.84162	.	0.157867	0.42682	D	0.000679	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-13.7367	15.7279	0.77777	1.0:0.0:0.0:0.0	.	.	.	.	X	873;912;895;873	.	ENSP00000256552:L895X	L	-	2	0	TRPM1	29115057	0.009000	0.17119	0.004000	0.12327	0.180000	0.23129	2.643000	0.46604	2.124000	0.65301	0.533000	0.62120	TTA		0.542	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		T	31327765	A	T	31327765	4	4	783	1	0	0	0	0	0	1	0	0	16590	372	13	5	2225	5	TRPM1	15	31327765	Nonsense_Mutation	SNP	A	TCGA-SX-A71R-01A-12D-A33Q-10		31327765	71203627	32	46406											
SLC7A5	8140	hgsc.bcm.edu	37	16	87902587	87902587	+	Missense_Mutation	SNP	C	C	A			TCGA-SX-A71R-01A-12D-A33Q-10	TCGA-SX-A71R-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c23b8a50-fec8-4f6d-86be-42ae4bb3feee	25cf82fb-bcef-43f2-866b-078527b0881a	g.chr16:87902587C>A	ENST00000261622.4	-	1	507	c.442G>T	c.(442-444)Gtg>Ttg	p.V148L		NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 5	148					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)	ACCAGGGCCACGATGTACTGC	0.652																																																0													15	13	13					16																	87902587		2119	4119	6238	SO:0001583	missense	8140			AF077866	CCDS10964.1	16q24.3	2013-05-22	2011-07-12		ENSG00000103257	ENSG00000103257		"CD molecules", "Solute carriers"	11063	protein-coding gene	gene with protein product		600182				9751058, 7829099	Standard	XM_006721286		Approved	LAT1, E16, D16S469E, MPE16, CD98	uc002fkm.3	Q01650	OTTHUMG00000137658	ENST00000261622.4:c.442G>T	chr16.hg19:g.87902587C>A	ENSP00000261622:p.Val148Leu		Q8IV97|Q9UBN8|Q9UP15|Q9UQC0	Missense_Mutation	SNP	ENST00000261622.4	hg19	CCDS10964.1	.	.	.	.	.	.	.	.	.	.	c	35	5.508315	0.96386	.	.	ENSG00000103257	ENST00000261622	D	0.89196	-2.48	4.34	4.34	0.51931	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.89904	0.6850	L	0.33137	0.985	0.80722	D	1	D	0.64830	0.994	P	0.59761	0.863	D	0.91451	0.5181	10	0.72032	D	0.01	.	15.8578	0.78994	0.0:1.0:0.0:0.0	.	148	Q01650	LAT1_HUMAN	L	148	ENSP00000261622:V148L	ENSP00000261622:V148L	V	-	1	0	SLC7A5	86460088	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	3.077000	0.50089	1.972000	0.57404	0.400000	0.26472	GTG		0.652	SLC7A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269110.2	NM_003486		A	87902587	C	A	87902587	3	1	783	1	0	0	0	0	1	0	0	0	14706	536	19	4	1121	4	SLC7A5	16	87902587	Missense_Mutation	SNP	C	TCGA-SX-A71R-01A-12D-A33Q-10		87902587	2452166	33	46407											
ALKBH5	54890	hgsc.bcm.edu	37	17	18088007	18088007	+	Silent	SNP	C	C	T			TCGA-SX-A71R-01A-12D-A33Q-10	TCGA-SX-A71R-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c23b8a50-fec8-4f6d-86be-42ae4bb3feee	25cf82fb-bcef-43f2-866b-078527b0881a	g.chr17:18088007C>T	ENST00000399138.4	+	1	455	c.450C>T	c.(448-450)ccC>ccT	p.P150P	ALKBH5_ENST00000541285.1_Intron|RP11-258F1.1_ENST00000583062.1_RNA|RP11-258F1.1_ENST00000577847.1_RNA	NM_017758.3	NP_060228.3	Q6P6C2	ALKB5_HUMAN	AlkB family member 5, RNA demethylase	150					cell differentiation (GO:0030154)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|oxidative single-stranded RNA demethylation (GO:0035553)|response to hypoxia (GO:0001666)|spermatogenesis (GO:0007283)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|oxidative RNA demethylase activity (GO:0035515)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|skin(1)	10	all_neural(463;0.228)					AGCGCGGGCCCGGCCAGGAGC	0.672																																					Ovarian(166;154 1953 40235 46283 46309)											0													26	31	30					17																	18088007		1901	4074	5975	SO:0001819	synonymous_variant	54890			AK000315	CCDS42272.1	17p11.2	2014-07-23	2014-07-23	2006-02-09	ENSG00000091542	ENSG00000091542	1.14.11.-	"Alkylation repair homologs"	25996	protein-coding gene	gene with protein product		613303	"oxoglutarate and iron-dependent oxygenase domain containing", "alkB, alkylation repair homolog 5 (E. coli)"	OFOXD1		11997338, 24778178	Standard	NM_017758		Approved	FLJ20308	uc010cpw.3	Q6P6C2	OTTHUMG00000059397	ENST00000399138.4:c.450C>T	chr17.hg19:g.18088007C>T			B4DVJ4|D3DXC6|Q9NXD6	Silent	SNP	ENST00000399138.4	hg19	CCDS42272.1																																																																																				0.672	ALKBH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132069.3	NM_017758		T	18088007	C	T	18088007	2	4	783	1	0	0	0	0	0	0	0	1	530	639	23	1		1	ALKBH5	17	18088007	Silent	SNP	C	TCGA-SX-A71R-01A-12D-A33Q-10		18088007	63107203	34	46408											
EVPLL	645027	hgsc.bcm.edu	37	17	18284974	18284974	+	Nonsense_Mutation	SNP	C	C	G	rs567752730		TCGA-SX-A71R-01A-12D-A33Q-10	TCGA-SX-A71R-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c23b8a50-fec8-4f6d-86be-42ae4bb3feee	25cf82fb-bcef-43f2-866b-078527b0881a	g.chr17:18284974C>G	ENST00000399134.4	+	4	634	c.276C>G	c.(274-276)taC>taG	p.Y92*	RP1-37N7.1_ENST00000579352.1_RNA	NM_001145127.1	NP_001138599.1	A8MZ36	EVPLL_HUMAN	envoplakin-like	92										NS(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GTGCCCTGTACGAGAAGATGG	0.627																																																0													134	123	126					17																	18284974		692	1591	2283	SO:0001587	stop_gained	645027				CCDS45626.1	17p11.2	2009-08-25			ENSG00000214860	ENSG00000214860			35236	protein-coding gene	gene with protein product							Standard	NM_001145127		Approved		uc002gte.3	A8MZ36	OTTHUMG00000059095	ENST00000399134.4:c.276C>G	chr17.hg19:g.18284974C>G	ENSP00000382086:p.Tyr92*		B4DPD4	Nonsense_Mutation	SNP	ENST00000399134.4	hg19	CCDS45626.1	.	.	.	.	.	.	.	.	.	.	.	16.41	3.116101	0.56505	.	.	ENSG00000214860	ENST00000399134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.8319	0.05503	0.0:0.5931:0.0:0.4069	.	.	.	.	X	92	.	ENSP00000382086:Y92X	Y	+	3	2	EVPLL	18225699	0.225000	0.23685	0.990000	0.47175	0.206000	0.24218	-1.410000	0.02480	0.432000	0.26286	0.074000	0.15403	TAC		0.627	EVPLL-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130836.2	NM_001145127		G	18284974	C	G	18284974	4	3	783	1	0	0	0	0	0	1	0	0	5295	547	19	4	286	4	EVPLL	17	18284974	Nonsense_Mutation	SNP	C	TCGA-SX-A71R-01A-12D-A33Q-10	196967	18284974	62910236	35	46409											
EVI2B	2124	hgsc.bcm.edu	37	17	29632360	29632360	+	Missense_Mutation	SNP	C	C	G			TCGA-SX-A71R-01A-12D-A33Q-10	TCGA-SX-A71R-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c23b8a50-fec8-4f6d-86be-42ae4bb3feee	25cf82fb-bcef-43f2-866b-078527b0881a	g.chr17:29632360C>G	ENST00000330927.4	-	2	422	c.268G>C	c.(268-270)Gaa>Caa	p.E90Q	EVI2B_ENST00000544462.1_Missense_Mutation_p.E105Q|EVI2B_ENST00000577894.1_Missense_Mutation_p.E90Q|NF1_ENST00000356175.3_Intron|NF1_ENST00000358273.4_Intron|CTD-2370N5.3_ENST00000578584.1_3'UTR	NM_006495.3	NP_006486.3	P34910	EVI2B_HUMAN	ecotropic viral integration site 2B	90						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)		TCTGGTTTTTCAGAAGAGGTA	0.478																																																11	Whole gene deletion(8)|Unknown(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)											379	306	331					17																	29632360		2203	4300	6503	SO:0001583	missense	2124				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.268G>C	chr17.hg19:g.29632360C>G	ENSP00000333779:p.Glu90Gln		B7Z4A7	Missense_Mutation	SNP	ENST00000330927.4	hg19	CCDS11266.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.233965	0.39498	.	.	ENSG00000185862	ENST00000330927;ENST00000544462	T;T	0.46819	0.87;0.86	5.04	4.06	0.47325	.	0.894418	0.09273	N	0.824825	T	0.39009	0.1062	L	0.44542	1.39	0.80722	D	1	P;P	0.42296	0.775;0.775	B;B	0.40825	0.341;0.341	T	0.09509	-1.0671	10	0.15499	T	0.54	-17.1445	8.413	0.32655	0.0:0.8949:0.0:0.1051	.	105;90	B7Z4A7;P34910	.;EVI2B_HUMAN	Q	90;105	ENSP00000333779:E90Q;ENSP00000439738:E105Q	ENSP00000333779:E90Q	E	-	1	0	EVI2B	26656486	0.456000	0.25744	0.876000	0.34364	0.015000	0.08874	0.763000	0.26517	2.348000	0.79779	0.561000	0.74099	GAA		0.478	EVI2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256349.2	NM_006495		G	29632360	C	G	29632360	3	3	783	1	0	0	0	0	1	0	0	0	5290	835	29	4	1082	4	EVI2B	17	29632360	Missense_Mutation	SNP	C	TCGA-SX-A71R-01A-12D-A33Q-10	11347386	29632360	51562850	36	46410											
NAT9	26151	hgsc.bcm.edu	37	17	72768111	72768111	+	Silent	SNP	A	A	G			TCGA-SX-A71R-01A-12D-A33Q-10	TCGA-SX-A71R-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c23b8a50-fec8-4f6d-86be-42ae4bb3feee	25cf82fb-bcef-43f2-866b-078527b0881a	g.chr17:72768111A>G	ENST00000357814.3	-	6	550	c.477T>C	c.(475-477)ctT>ctC	p.L159L	NAT9_ENST00000580301.1_Silent_p.L158L|NAT9_ENST00000582524.1_Intron|NAT9_ENST00000578822.1_Silent_p.L164L|NAT9_ENST00000582870.1_Silent_p.L163L|NAT9_ENST00000580632.1_Silent_p.L159L|NAT9_ENST00000583476.1_Missense_Mutation_p.S134P|NAT9_ENST00000581136.1_Silent_p.L154L|NAT9_ENST00000583757.1_Intron|NAT9_ENST00000580216.1_5'Flank	NM_015654.3	NP_056469.2	Q9BTE0	NAT9_HUMAN	N-acetyltransferase 9 (GCN5-related, putative)	159	N-acetyltransferase.					protein complex (GO:0043234)	N-acetyltransferase activity (GO:0008080)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)	8						GCTCAAAGTGAAGTTTCTGGA	0.512																																																0													158	153	155					17																	72768111		2203	4300	6503	SO:0001819	synonymous_variant	26151			AK123115	CCDS11706.1	17q25.2	2011-11-25	2008-09-24		ENSG00000109065	ENSG00000109065			23133	protein-coding gene	gene with protein product			"N-acetyltransferase 9"			14608357	Standard	NM_015654		Approved	DKFZP564C103	uc002jlq.3	Q9BTE0		ENST00000357814.3:c.477T>C	chr17.hg19:g.72768111A>G			B2R7F0|Q9BTD0|Q9Y3T3	Silent	SNP	ENST00000357814.3	hg19	CCDS11706.1																																																																																				0.512	NAT9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000443700.1	NM_015654		G	72768111	A	G	72768111	2	3	783	1	0	0	0	0	0	0	0	1	10184	233	9	3		3	NAT9	17	72768111	Silent	SNP	A	TCGA-SX-A71R-01A-12D-A33Q-10	43135751	72768111	8427099	37	46411											
SMARCA4	6597	hgsc.bcm.edu	37	19	11144020	11144020	+	Missense_Mutation	SNP	G	G	C			TCGA-SX-A71R-01A-12D-A33Q-10	TCGA-SX-A71R-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c23b8a50-fec8-4f6d-86be-42ae4bb3feee	25cf82fb-bcef-43f2-866b-078527b0881a	g.chr19:11144020G>C	ENST00000429416.3	+	27	3882	c.3601G>C	c.(3601-3603)Gtg>Ctg	p.V1201L	SMARCA4_ENST00000444061.3_Missense_Mutation_p.V1201L|SMARCA4_ENST00000413806.3_Missense_Mutation_p.V1201L|SMARCA4_ENST00000344626.4_Missense_Mutation_p.V1201L|SMARCA4_ENST00000590574.1_Missense_Mutation_p.V1201L|SMARCA4_ENST00000358026.2_Missense_Mutation_p.V1201L|SMARCA4_ENST00000541122.2_Missense_Mutation_p.V1201L|SMARCA4_ENST00000450717.3_Missense_Mutation_p.V1201L|SMARCA4_ENST00000589677.1_Missense_Mutation_p.V1201L	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1201	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)				CGAGGTGCGTGTGCTCCGCCT	0.622			"F, N, Mis"		NSCLC																																		Rec	yes		19	19p13.2	6597	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"		E	1	Unknown(1)	lung(1)											86	82	83					19																	11144020		2203	4300	6503	SO:0001583	missense	6597			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4"	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.3601G>C	chr19.hg19:g.11144020G>C	ENSP00000395654:p.Val1201Leu		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	hg19	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.549924	0.86127	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	T;T;T;T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3	4.74	4.74	0.60224	Helicase, C-terminal (1);	0.146662	0.44902	D	0.000416	D	0.90827	0.7119	H	0.95365	3.66	0.58432	D	0.999996	P;P;P;B;P;D;B	0.55605	0.887;0.887;0.887;0.139;0.589;0.972;0.139	P;P;P;B;B;P;B	0.54590	0.656;0.723;0.723;0.139;0.239;0.756;0.139	D	0.93705	0.7019	10	0.87932	D	0	-33.2279	16.7067	0.85374	0.0:0.0:1.0:0.0	.	1201;1201;1201;1201;1201;421;1201	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	L	1201;1201;1265;1201;1201;1201;1201;1201	ENSP00000395654:V1201L;ENSP00000350720:V1201L;ENSP00000343896:V1201L;ENSP00000445036:V1201L;ENSP00000392837:V1201L;ENSP00000397783:V1201L;ENSP00000414727:V1201L	ENSP00000343896:V1201L	V	+	1	0	SMARCA4	11005020	1.000000	0.71417	0.963000	0.40424	0.961000	0.63080	9.319000	0.96338	2.488000	0.83962	0.558000	0.71614	GTG		0.622	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		C	11144020	G	C	11144020	3	2	783	1	0	0	0	0	1	0	0	0	14776	1377	48	4	3699	4	SMARCA4	19	11144020	Missense_Mutation	SNP	G	TCGA-SX-A71R-01A-12D-A33Q-10		11144020	47984963	38	46412											
CYP4F3	4051	hgsc.bcm.edu	37	19	15752326	15752326	+	Missense_Mutation	SNP	T	T	G			TCGA-SX-A71R-01A-12D-A33Q-10	TCGA-SX-A71R-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c23b8a50-fec8-4f6d-86be-42ae4bb3feee	25cf82fb-bcef-43f2-866b-078527b0881a	g.chr19:15752326T>G	ENST00000221307.8	+	2	148	c.101T>G	c.(100-102)aTc>aGc	p.I34S	CYP4F3_ENST00000591058.1_Missense_Mutation_p.I34S|CYP4F3_ENST00000586182.2_Missense_Mutation_p.I34S|CYP4F3_ENST00000585846.1_Missense_Mutation_p.I34S	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	34					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						CTGGCCCGCATCCTGGCCTGG	0.637																																																0													60	63	62					19																	15752326		2203	4300	6503	SO:0001583	missense	4051			AB002454	CCDS12332.1, CCDS59362.1	19p13.12	2013-02-21	2003-01-14		ENSG00000186529	ENSG00000186529		"Cytochrome P450s"	2646	protein-coding gene	gene with protein product		601270	"cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase)"	LTB4H		8486631, 9539102	Standard	NM_000896		Approved	CYP4F	uc010xol.2	Q08477	OTTHUMG00000182374	ENST00000221307.8:c.101T>G	chr19.hg19:g.15752326T>G	ENSP00000221307:p.Ile34Ser		B7Z8Z3|O60634|Q5U740	Missense_Mutation	SNP	ENST00000221307.8	hg19	CCDS12332.1	.	.	.	.	.	.	.	.	.	.	.	9.352	1.065809	0.20067	.	.	ENSG00000186529	ENST00000221307	D	0.90069	-2.61	3.9	0.0418	0.14214	.	1.091210	0.07176	U	0.853302	D	0.85877	0.5799	L	0.48642	1.525	0.09310	N	1	B;B	0.26363	0.147;0.147	B;B	0.31337	0.128;0.128	T	0.74711	-0.3573	10	0.62326	D	0.03	.	9.4966	0.38993	0.0:0.0:0.5539:0.4461	.	34;34	B7Z8Z3;Q08477	.;CP4F3_HUMAN	S	34	ENSP00000221307:I34S	ENSP00000221307:I34S	I	+	2	0	CYP4F3	15613326	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.096000	0.15147	-0.033000	0.13736	-0.811000	0.03165	ATC		0.637	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460819.3	NM_000896		G	15752326	T	G	15752326	3	3	783	1	0	0	0	0	1	0	0	0	4192	1435	50	5	103	5	CYP4F3	19	15752326	Missense_Mutation	SNP	T	TCGA-SX-A71R-01A-12D-A33Q-10	4608306	15752326	43376657	39	46413											
TTC3	7267	hgsc.bcm.edu	37	21	38494269	38494269	+	Missense_Mutation	SNP	A	A	T			TCGA-SX-A71R-01A-12D-A33Q-10	TCGA-SX-A71R-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c23b8a50-fec8-4f6d-86be-42ae4bb3feee	25cf82fb-bcef-43f2-866b-078527b0881a	g.chr21:38494269A>T	ENST00000399017.2	+	12	3800	c.1053A>T	c.(1051-1053)gaA>gaT	p.E351D	TTC3_ENST00000540756.1_Missense_Mutation_p.E41D|TTC3_ENST00000355666.1_Missense_Mutation_p.E351D|TTC3_ENST00000354749.2_Missense_Mutation_p.E351D|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	351					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)				AACAAATAGAAGACCTACAAG	0.373																																					Ovarian(38;194 1649 35661)											0													64	65	65					21																	38494269		2203	4300	6503	SO:0001583	missense	7267			D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"RING-type (C3HC4) zinc fingers", "Tetratricopeptide (TTC) repeat domain containing"	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.1053A>T	chr21.hg19:g.38494269A>T	ENSP00000381981:p.Glu351Asp		A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	ENST00000399017.2	hg19	CCDS13651.1	.	.	.	.	.	.	.	.	.	.	A	14.03	2.413394	0.42817	.	.	ENSG00000182670	ENST00000418766;ENST00000450533;ENST00000438055;ENST00000355666;ENST00000540756;ENST00000399017;ENST00000354749	T;T;T;T;T;T;T	0.48836	1.03;1.03;1.03;2.93;0.8;2.93;2.93	5.41	4.26	0.50523	Tetratricopeptide-like helical (1);	0.000000	0.56097	D	0.000032	T	0.34048	0.0884	L	0.27053	0.805	0.32047	N	0.597515	B;B	0.21753	0.009;0.06	B;B	0.17433	0.007;0.018	T	0.39035	-0.9633	10	0.56958	D	0.05	-16.3909	10.2565	0.43401	0.8212:0.1788:0.0:0.0	.	41;351	B4DSZ9;P53804	.;TTC3_HUMAN	D	351;351;333;351;41;351;351	ENSP00000403943:E351D;ENSP00000408456:E351D;ENSP00000391891:E333D;ENSP00000347889:E351D;ENSP00000442875:E41D;ENSP00000381981:E351D;ENSP00000346791:E351D	ENSP00000346791:E351D	E	+	3	2	TTC3	37416139	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.903000	0.28475	0.895000	0.36342	0.528000	0.53228	GAA		0.373	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1			T	38494269	A	T	38494269	3	4	783	1	0	0	0	0	1	0	0	0	16702	69	3	5	1095	5	TTC3	21	38494269	Missense_Mutation	SNP	A	TCGA-SX-A71R-01A-12D-A33Q-10		38494269	9635626	40	46414											
MTM1	4534	hgsc.bcm.edu	37	X	149767104	149767104	+	Missense_Mutation	SNP	G	G	T			TCGA-SX-A71R-01A-12D-A33Q-10	TCGA-SX-A71R-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c23b8a50-fec8-4f6d-86be-42ae4bb3feee	25cf82fb-bcef-43f2-866b-078527b0881a	g.chrX:149767104G>T	ENST00000370396.2	+	4	239	c.185G>T	c.(184-186)aGa>aTa	p.R62I	MTM1_ENST00000542741.1_Intron|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000543350.1_Intron|MTM1_ENST00000413012.2_Missense_Mutation_p.R62I	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	62	GRAM.				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)					ATTAAGGGAAGAGTTTACATC	0.299																																																0													72	71	71					X																	149767104		2202	4295	6497	SO:0001583	missense	4534			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.185G>T	chrX.hg19:g.149767104G>T	ENSP00000359423:p.Arg62Ile		A6NDB1|B7Z491|F2Z330|Q8NEL1	Missense_Mutation	SNP	ENST00000370396.2	hg19	CCDS14694.1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.650071	0.47362	.	.	ENSG00000171100	ENST00000370396;ENST00000424519;ENST00000413012	D;D;D	0.88818	-2.43;-2.43;-2.43	5.62	4.75	0.60458	GRAM (2);	0.096235	0.64402	D	0.000001	D	0.84115	0.5401	L	0.43923	1.385	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.19666	0.026;0.026	T	0.79200	-0.1901	10	0.30854	T	0.27	.	11.9192	0.52783	0.0872:0.0:0.9128:0.0	.	62;62	B7Z491;Q13496	.;MTM1_HUMAN	I	62	ENSP00000359423:R62I;ENSP00000400699:R62I;ENSP00000389157:R62I	ENSP00000359423:R62I	R	+	2	0	MTM1	149517762	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.671000	0.54576	2.363000	0.80096	0.600000	0.82982	AGA		0.299	MTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060847.3	NM_000252		T	149767104	G	T	149767104	3	4	783	1	0	0	0	0	1	0	0	0	9939	942	33	4	195	4	MTM1	23	149767104	Missense_Mutation	SNP	G	TCGA-SX-A71R-01A-12D-A33Q-10		149767104	5503456	41	46415											
MASP2	10747	hgsc.bcm.edu	37	1	11105002	11105002	+	Intron	DEL	G	G	-			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr1:11105002delG	ENST00000400897.3	-	4	560				MASP2_ENST00000400898.3_Frame_Shift_Del_p.L185fs	NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|complement component C4b binding (GO:0001855)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		GGAGGCTAGAGGCTCTGCTCT	0.667																																					GBM(35;611 746 20780 22741 36496)											0													22	24	23					1																	11105002		2201	4299	6500	SO:0001627	intron_variant	10747			X98400	CCDS123.1, CCDS124.1	1p36.3-p36.2	2014-09-17	2005-08-17		ENSG00000009724	ENSG00000009724			6902	protein-coding gene	gene with protein product		605102	"mannan-binding lectin serine protease 2", "mannan-binding lectin serine peptidase 1 pseudogene 1", "mannan-binding lectin serine protease 1 pseudogene 1"	MASP1P1		9087411, 9777418	Standard	NM_006610		Approved		uc001aru.3	O00187	OTTHUMG00000002121	ENST00000400897.3:c.544+462C>-	chr1.hg19:g.11105002delG			A8K458|A8MWJ2|O75754|Q5TEQ5|Q5TER0|Q96QG4|Q9BZH0|Q9H498|Q9H499|Q9UBP3|Q9UC48|Q9ULC7|Q9UMV3|Q9Y270	Frame_Shift_Del	DEL	ENST00000400897.3	hg19	CCDS123.1																																																																																				0.667	MASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006072.1	NM_006610		-	11105002	G	-	11105002	6	5	784	0	1	1	0	1	0	0	0	0	9325	1000	35	0		0	MASP2	1	11105002	Intron	DEL	G	TCGA-SX-A71S-01A-11D-A33Q-10		11105002	238145619	1	46416											
TNFRSF8	943	hgsc.bcm.edu	37	1	12170173	12170173	+	Silent	SNP	G	G	T			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr1:12170173G>T	ENST00000263932.2	+	6	810	c.588G>T	c.(586-588)ggG>ggT	p.G196G	TNFRSF8_ENST00000417814.2_Silent_p.G85G	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	196					cellular response to mechanical stimulus (GO:0071260)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of TRAIL biosynthetic process (GO:0045556)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Brentuximab vedotin(DB08870)	CTGTAAGAGGGGGCACCCGCC	0.627																																																0													50	48	49					1																	12170173		2203	4300	6503	SO:0001819	synonymous_variant	943			M83554	CCDS144.1, CCDS59989.1	1p36	2008-02-05			ENSG00000120949	ENSG00000120949		"Tumor necrosis factor receptor superfamily", "CD molecules"	11923	protein-coding gene	gene with protein product		153243		CD30, D1S166E		1330892, 1310894	Standard	XM_006711049		Approved	KI-1	uc001atq.3	P28908	OTTHUMG00000001827	ENST00000263932.2:c.588G>T	chr1.hg19:g.12170173G>T			B1AN79|B9EGD9|D3YTD8|Q6P4D9	Silent	SNP	ENST00000263932.2	hg19	CCDS144.1																																																																																				0.627	TNFRSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005130.1			T	12170173	G	T	12170173	2	4	784	1	0	0	0	0	0	0	0	1	16304	1219	43	4		4	TNFRSF8	1	12170173	Silent	SNP	G	TCGA-SX-A71S-01A-11D-A33Q-10	1065171	12170173	237080448	2	46417											
PAX7	5081	hgsc.bcm.edu	37	1	18961677	18961677	+	Missense_Mutation	SNP	G	G	A			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr1:18961677G>A	ENST00000375375.3	+	3	992	c.394G>A	c.(394-396)Gag>Aag	p.E132K	PAX7_ENST00000400661.3_Missense_Mutation_p.E132K|PAX7_ENST00000420770.2_Missense_Mutation_p.E132K	NM_002584.2|NM_013945.2	NP_002575.1|NP_039236.1	P23759	PAX7_HUMAN	paired box 7	132	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.|Sufficient to mediate interaction with PAXBP1. {ECO:0000250}.				anatomical structure morphogenesis (GO:0009653)|cartilage development (GO:0051216)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic skeletal system development (GO:0048706)|muscle tissue morphogenesis (GO:0060415)|negative regulation of apoptotic process (GO:0043066)|neuron fate commitment (GO:0048663)|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 cell fate commitment (GO:0010453)|regulation of protein binding (GO:0043393)|skeletal muscle satellite cell commitment (GO:0014813)|skeletal muscle tissue regeneration (GO:0043403)|spinal cord association neuron differentiation (GO:0021527)	nucleus (GO:0005634)	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)		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		GTTCAGCTGGGAGATCCGGGA	0.587			T	FOXO1A	alveolar rhabdomyosarcoma																																		Dom	yes		1	1p36.2-p36.12	5081	paired box gene 7		M	0													81	75	77					1																	18961677		2203	4300	6503	SO:0001583	missense	5081			X96743	CCDS186.1, CCDS44074.1, CCDS44075.1	1p36.13	2011-06-20	2007-07-12		ENSG00000009709	ENSG00000009709		"Paired boxes", "Homeoboxes / PRD class"	8621	protein-coding gene	gene with protein product		167410	"paired box gene 7"			7981748, 8431641	Standard	NM_001135254		Approved	Hup1	uc001bay.3	P23759	OTTHUMG00000002433	ENST00000375375.3:c.394G>A	chr1.hg19:g.18961677G>A	ENSP00000364524:p.Glu132Lys		E9PFV9|Q0VA99|Q2PJS5	Missense_Mutation	SNP	ENST00000375375.3	hg19	CCDS186.1	.	.	.	.	.	.	.	.	.	.	G	34	5.375541	0.95923	.	.	ENSG00000009709	ENST00000375375;ENST00000420770;ENST00000400661	D;D;D	0.99598	-6.26;-6.26;-6.26	5.14	5.14	0.70334	Paired box protein, N-terminal (3);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99796	0.9913	H	0.97540	4.025	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.983	D;D;D	0.85130	0.997;0.995;0.94	D	0.96972	0.9709	10	0.87932	D	0	.	17.337	0.87285	0.0:0.0:1.0:0.0	.	132;132;132	E9PFV9;P23759-2;P23759	.;.;PAX7_HUMAN	K	132	ENSP00000364524:E132K;ENSP00000403389:E132K;ENSP00000383502:E132K	ENSP00000364524:E132K	E	+	1	0	PAX7	18834264	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.558000	0.98132	2.686000	0.91538	0.561000	0.74099	GAG		0.587	PAX7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000006928.1	NM_002584		A	18961677	G	A	18961677	3	1	784	1	0	0	0	0	1	0	0	0	11486	1175	41	2	404	2	PAX7	1	18961677	Missense_Mutation	SNP	G	TCGA-SX-A71S-01A-11D-A33Q-10	6791504	18961677	230288944	3	46418											
GPN2	63906	hgsc.bcm.edu	37	1	27216294	27216294	+	IGR	SNP	C	C	T			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr1:27216294C>T	ENST00000361720.5	-	0	2123				GPN2_ENST00000374135.4_Silent_p.K98K|GPN2_ENST00000461282.1_5'Flank	NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3								nucleic acid binding (GO:0003676)			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		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;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		GGGGGTCGAGCTTGGCACGCA	0.667																																																0													59	55	56					1																	27216294		2203	4300	6503	SO:0001628	intergenic_variant	54707			BC007767	CCDS290.1	1p35.3-p35.1	2013-01-28		2006-12-13	ENSG00000198746	ENSG00000198746		"G patch domain containing"	25720	protein-coding gene	gene with protein product				GPATC3			Standard	NM_022078		Approved	FLJ12455	uc001bne.3	Q96I76	OTTHUMG00000004229		chr1.hg19:g.27216294C>T			Q5JYH2|Q8NDJ2|Q9H9Z3	Silent	SNP	ENST00000361720.5	hg19	CCDS290.1																																																																																				0.667	GPATCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012181.1	NM_022078		T	27216294	C	T	27216294	1	4	784	0	1	0	0	0	0	0	0	0	6620	796	28	2		2	GPN2	1	27216294	IGR	SNP	C	TCGA-SX-A71S-01A-11D-A33Q-10	8254617	27216294	222034327	4	46419											
MACF1	23499	hgsc.bcm.edu	37	1	39824842	39824842	+	Missense_Mutation	SNP	A	A	T			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr1:39824842A>T	ENST00000372915.3	+	46	12252	c.12165A>T	c.(12163-12165)caA>caT	p.Q4055H	MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000539005.1_Missense_Mutation_p.Q1988H|MACF1_ENST00000567887.1_Missense_Mutation_p.Q4087H|MACF1_ENST00000564288.1_Missense_Mutation_p.Q4050H|MACF1_ENST00000317713.7_Missense_Mutation_p.Q1988H|MACF1_ENST00000545844.1_Missense_Mutation_p.Q1988H|MACF1_ENST00000289893.4_Missense_Mutation_p.Q2490H|MACF1_ENST00000361689.2_Missense_Mutation_p.Q1988H			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4055					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)			CTGAGCACCAAGTACCTGTGG	0.423																																																0													71	70	70					1																	39824842		2203	4300	6503	SO:0001583	missense	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.12165A>T	chr1.hg19:g.39824842A>T	ENSP00000362006:p.Gln4055His		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.8|22.8	4.339791|4.339791	0.81911|0.81911	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	T;T;T;T;T;T|.	0.55760|.	0.5;0.5;0.5;0.5;0.5;0.5|.	5.35|5.35	4.21|4.21	0.49690|0.49690	.|.	0.000000|.	0.64402|.	D|.	0.000012|.	T|T	0.63355|0.63355	0.2504|0.2504	M|M	0.74881|0.74881	2.28|2.28	0.80722|0.80722	D|D	1|1	P;B;D;D|.	0.63880|.	0.86;0.067;0.993;0.975|.	P;B;D;P|.	0.65443|.	0.797;0.103;0.935;0.796|.	T|T	0.64689|0.64689	-0.6348|-0.6348	10|5	0.72032|.	D|.	0.01|.	.|.	5.0785|5.0785	0.14644|0.14644	0.8019:0.0:0.1981:0.0|0.8019:0.0:0.1981:0.0	.|.	4055;1988;1988;1953|.	Q9UPN3;F8W8Q1;Q9UPN3-2;Q9UPN3-3|.	MACF1_HUMAN;.;.;.|.	H|C	1988;4055;1988;1988;1988;2490|1122	ENSP00000439537:Q1988H;ENSP00000362006:Q4055H;ENSP00000354573:Q1988H;ENSP00000313438:Q1988H;ENSP00000444364:Q1988H;ENSP00000289893:Q2490H|.	ENSP00000289893:Q2490H|.	Q|S	+|+	3|1	2|0	MACF1|MACF1	39597429|39597429	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	2.308000|2.308000	0.43690|0.43690	2.149000|2.149000	0.67028|0.67028	0.460000|0.460000	0.39030|0.39030	CAA|AGT		0.423	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		T	39824842	A	T	39824842	3	4	784	1	0	0	0	0	1	0	0	0	9146	69	3	5	12281	5	MACF1	1	39824842	Missense_Mutation	SNP	A	TCGA-SX-A71S-01A-11D-A33Q-10	12608548	39824842	209425779	5	46420											
RLF	6018	hgsc.bcm.edu	37	1	40704556	40704556	+	Missense_Mutation	SNP	G	G	C			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr1:40704556G>C	ENST00000372771.4	+	8	4209	c.4182G>C	c.(4180-4182)gaG>gaC	p.E1394D		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1394					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)			ATATTGAAGAGCCTAAAGTAC	0.403																																																0													80	79	79					1																	40704556		2203	4300	6503	SO:0001583	missense	6018				CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"Zinc fingers, C2H2-type"	10025	protein-coding gene	gene with protein product		180610	"rearranged L-myc fusion sequence"			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.4182G>C	chr1.hg19:g.40704556G>C	ENSP00000361857:p.Glu1394Asp		Q14CQ1|Q9NU60	Missense_Mutation	SNP	ENST00000372771.4	hg19	CCDS448.1	.	.	.	.	.	.	.	.	.	.	G	10.54	1.379214	0.24944	.	.	ENSG00000117000	ENST00000372771;ENST00000535839	T	0.15139	2.45	5.91	4.92	0.64577	.	0.305702	0.34507	N	0.003918	T	0.04272	0.0118	N	0.00707	-1.245	0.39572	D	0.969296	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.003	T	0.39643	-0.9604	10	0.23891	T	0.37	-13.2144	5.5377	0.17021	0.078:0.1073:0.6082:0.2065	.	1087;1394	F5H2M5;Q13129	.;RLF_HUMAN	D	1394;1087	ENSP00000361857:E1394D	ENSP00000361857:E1394D	E	+	3	2	RLF	40477143	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	1.454000	0.35178	2.793000	0.96121	0.655000	0.94253	GAG		0.403	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1	NM_012421		C	40704556	G	C	40704556	3	2	784	1	0	0	0	0	1	0	0	0	13395	962	34	4	4212	4	RLF	1	40704556	Missense_Mutation	SNP	G	TCGA-SX-A71S-01A-11D-A33Q-10	879714	40704556	208546065	6	46421											
TTC39A	22996	hgsc.bcm.edu	37	1	51777848	51777848	+	Missense_Mutation	SNP	C	C	A			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr1:51777848C>A	ENST00000447632.2	-	4	349	c.301G>T	c.(301-303)Gta>Tta	p.V101L	TTC39A_ENST00000262675.7_Missense_Mutation_p.V73L|TTC39A_ENST00000371750.5_Missense_Mutation_p.V101L|TTC39A_ENST00000413473.2_Missense_Mutation_p.V104L|TTC39A_ENST00000451380.1_Missense_Mutation_p.V100L|TTC39A_ENST00000371747.3_Missense_Mutation_p.V100L|TTC39A_ENST00000262676.5_Missense_Mutation_p.V97L			Q5SRH9	TT39A_HUMAN	tetratricopeptide repeat domain 39A	101								p.0?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						GAATCTGTTACAGAAGACTTC	0.552																																																2	Whole gene deletion(2)	thyroid(1)|central_nervous_system(1)											43	45	44					1																	51777848		1893	4104	5997	SO:0001583	missense	22996			AB007921	CCDS44143.1, CCDS44144.1, CCDS72789.1, CCDS72790.1	1p32.3	2013-01-11	2008-06-23	2008-06-23	ENSG00000085831	ENSG00000085831		"Tetratricopeptide (TTC) repeat domain containing"	18657	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 34"	C1orf34		9455484, 9461476	Standard	XM_005270643		Approved	KIAA0452, DEME-6	uc010onf.2	Q5SRH9	OTTHUMG00000008193	ENST00000447632.2:c.301G>T	chr1.hg19:g.51777848C>A	ENSP00000393952:p.Val101Leu		B7Z782|E7EQY9|G3XAF8|O43417|O75040|Q5SRH5|Q5SRH6|Q5SRH7|Q5SRH8|Q5SRI0|Q5SRI1|Q5SRI2|Q5T7S1|Q6PIU8|Q9BT24	Missense_Mutation	SNP	ENST00000447632.2	hg19		.	.	.	.	.	.	.	.	.	.	C	6.034	0.374693	0.11409	.	.	ENSG00000085831	ENST00000447632;ENST00000413473;ENST00000262675;ENST00000451380;ENST00000371750;ENST00000371747;ENST00000262676;ENST00000411642;ENST00000439482;ENST00000422925;ENST00000380849;ENST00000401051;ENST00000532836;ENST00000527205	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96	3.55	2.6	0.31112	.	0.459723	0.22016	N	0.065781	T	0.18718	0.0449	N	0.10685	0.025	0.31602	N	0.652598	B;B;B;B;B;B;B	0.13594	0.0;0.0;0.003;0.008;0.001;0.0;0.002	B;B;B;B;B;B;B	0.18871	0.001;0.002;0.02;0.023;0.012;0.004;0.011	T	0.25467	-1.0131	10	0.07325	T	0.83	-1.0752	9.2988	0.37833	0.0:0.8868:0.0:0.1132	.	104;100;73;97;100;101;101	Q5SRH9-4;E7EQY9;D3DQ30;Q5SRH9-3;B7Z782;Q5SRH9;G3XAF8	.;.;.;.;.;TT39A_HUMAN;.	L	101;104;73;100;101;100;97;73;100;73;73;104;73;128	ENSP00000393952:V101L;ENSP00000406144:V104L;ENSP00000262675:V73L;ENSP00000397207:V100L;ENSP00000360815:V101L;ENSP00000360812:V100L;ENSP00000262676:V97L;ENSP00000408532:V73L;ENSP00000405803:V100L;ENSP00000388995:V73L;ENSP00000370230:V73L;ENSP00000383830:V104L;ENSP00000434483:V73L;ENSP00000432453:V128L	ENSP00000262675:V73L	V	-	1	0	TTC39A	51550436	0.436000	0.25586	0.967000	0.41034	0.601000	0.36947	1.159000	0.31749	0.798000	0.33994	0.313000	0.20887	GTA		0.552	TTC39A-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000022434.2			A	51777848	C	A	51777848	3	1	784	1	0	0	0	0	1	0	0	0	16712	478	17	4	1495	4	TTC39A	1	51777848	Missense_Mutation	SNP	C	TCGA-SX-A71S-01A-11D-A33Q-10	11073292	51777848	197472773	7	46422											
RABGGTB	5876	hgsc.bcm.edu	37	1	76257870	76257871	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr1:76257870_76257871insTT	ENST00000319942.3	+	7	655_656	c.584_585insTT	c.(583-588)tattgtfs	p.C196fs	SNORD45B_ENST00000364617.1_RNA|RABGGTB_ENST00000496055.1_3'UTR|RABGGTB_ENST00000535300.1_Frame_Shift_Ins_p.C22fs	NM_004582.3	NP_004573.2	P53611	PGTB2_HUMAN	Rab geranylgeranyltransferase, beta subunit	196					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(2)|large_intestine(6)|lung(7)|ovary(1)	19						TTTTAGATCTATTGTTGCACAG	0.327																																																0																																										SO:0001589	frameshift_variant	5876			U49245	CCDS669.1	1p31	2008-02-05			ENSG00000137955	ENSG00000137955			9796	protein-coding gene	gene with protein product		179080				8706741, 8954794	Standard	NM_004582		Approved		uc001dgy.2	P53611	OTTHUMG00000009786	ENST00000319942.3:c.585_586dupTT	chr1.hg19:g.76257871_76257872dupTT	ENSP00000317473:p.Cys196fs		Q92697	Frame_Shift_Ins	INS	ENST00000319942.3	hg19	CCDS669.1																																																																																				0.327	RABGGTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026972.1	NM_004582		TT	76257871	-	TT	76257870	7	5	784	1	0	1	1	0	0	0	0	0	12974	449	16	0	610	0	RABGGTB	1	76257870	Frame_Shift_Ins	INS	-	TCGA-SX-A71S-01A-11D-A33Q-10	24480022	76257870	172992751	8	46423											
GLMN	11146	hgsc.bcm.edu	37	1	92731987	92731988	+	Frame_Shift_Ins	INS	-	-	T			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr1:92731987_92731988insT	ENST00000370360.3	-	13	1283_1284	c.1202_1203insA	c.(1201-1203)tatfs	p.Y401fs	GLMN_ENST00000534881.1_Frame_Shift_Ins_p.Y387fs	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	401					muscle cell differentiation (GO:0042692)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of T cell proliferation (GO:0042130)|neural tube closure (GO:0001843)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of phosphorylation (GO:0042327)|regulation of gene expression, epigenetic (GO:0040029)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|vasculogenesis (GO:0001570)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul3-RING ubiquitin ligase complex (GO:0031463)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|cullin-RING ubiquitin ligase complex (GO:0031461)|intracellular (GO:0005622)	hepatocyte growth factor receptor binding (GO:0005171)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase inhibitor activity (GO:0055105)			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		TAAATAATGTATATTTGCCTTG	0.302									Multiple Glomus Tumors (of the Skin), Familial																																							0																																										SO:0001589	frameshift_variant	11146	Familial Cancer Database	Multiple Familial Glomangiomas, Hereditary Multiple Glomus Tumors, Familial Multiple Glomangiomatosis, Inherited Cutaneous Venous Anomalies, incl. Familial Multiple Glomangiomyoma	U73704	CCDS738.1	1p22.1	2008-02-05	2004-07-01		ENSG00000174842	ENSG00000174842			14373	protein-coding gene	gene with protein product		601749	"venous malformation with glomus cells"	VMGLOM		8955134	Standard	XM_005270400		Approved	FAP48, GLML, GVM, FKBPAP	uc001dor.3	Q92990	OTTHUMG00000010283	ENST00000370360.3:c.1203dupA	chr1.hg19:g.92731988_92731988dupT	ENSP00000359385:p.Tyr401fs		Q5VVC3|Q9BVE8	Frame_Shift_Ins	INS	ENST00000370360.3	hg19	CCDS738.1																																																																																				0.302	GLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028358.1	NM_007070		T	92731988	-	T	92731987	7	5	784	1	0	1	1	0	0	0	0	0	6450	456	16	0	609	0	GLMN	1	92731987	Frame_Shift_Ins	INS	-	TCGA-SX-A71S-01A-11D-A33Q-10	16474117	92731987	156518634	9	46424											
TRIM33	51592	hgsc.bcm.edu	37	1	115006036	115006036	+	Nonsense_Mutation	SNP	G	G	T			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr1:115006036G>T	ENST00000358465.2	-	3	871	c.788C>A	c.(787-789)tCa>tAa	p.S263*	TRIM33_ENST00000450349.2_5'UTR|TRIM33_ENST00000369543.2_Nonsense_Mutation_p.S263*	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	263					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)		TATCTTACCTGAGACATCTTC	0.333			T	RET	papillary thyroid																																		Dom	yes		1	1p13	51592	" tripartite motif-containing 33 (PTC7,TIF1G)"		E	0													152	135	141					1																	115006036		2203	4299	6502	SO:0001587	stop_gained	51592			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.788C>A	chr1.hg19:g.115006036G>T	ENSP00000351250:p.Ser263*		O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Nonsense_Mutation	SNP	ENST00000358465.2	hg19	CCDS872.1	.	.	.	.	.	.	.	.	.	.	G	39	7.889202	0.98545	.	.	ENSG00000197323	ENST00000358465;ENST00000369543	.	.	.	5.67	5.67	0.87782	.	0.174270	0.51477	D	0.000096	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.1834	19.7863	0.96440	0.0:0.0:1.0:0.0	.	.	.	.	X	263	.	ENSP00000351250:S263X	S	-	2	0	TRIM33	114807559	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	9.352000	0.97076	2.665000	0.90641	0.655000	0.94253	TCA		0.333	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	NM_015906		T	115006036	G	T	115006036	4	4	784	1	0	0	0	0	0	1	0	0	16512	1294	45	4	2667	4	TRIM33	1	115006036	Nonsense_Mutation	SNP	G	TCGA-SX-A71S-01A-11D-A33Q-10	22274049	115006036	134244585	10	46425											
NRAS	4893	hgsc.bcm.edu	37	1	115251231	115251231	+	Missense_Mutation	SNP	C	C	A			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr1:115251231C>A	ENST00000369535.4	-	5	748	c.495G>T	c.(493-495)caG>caT	p.Q165H		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	165					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)			NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCATTCGGTACTGGCGTATTT	0.413		50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																													Dom	yes		1	1p13.2	4893	neuroblastoma RAS viral (v-ras) oncogene homolog		"L, E"	0													293	247	263					1																	115251231		2203	4300	6503	SO:0001583	missense	4893	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.495G>T	chr1.hg19:g.115251231C>A	ENSP00000358548:p.Gln165His		Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	hg19	CCDS877.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.053902	0.55218	.	.	ENSG00000213281	ENST00000369535	T	0.69040	-0.37	5.86	4.95	0.65309	.	0.125967	0.33040	U	0.005343	T	0.43743	0.1261	L	0.40543	1.245	0.51767	D	0.999937	B	0.02656	0.0	B	0.06405	0.002	T	0.51301	-0.8723	10	0.66056	D	0.02	.	12.4792	0.55831	0.0:0.8651:0.0:0.1349	.	165	P01111	RASN_HUMAN	H	165	ENSP00000358548:Q165H	ENSP00000358548:Q165H	Q	-	3	2	NRAS	115052754	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.426000	0.34870	1.623000	0.50342	0.650000	0.86243	CAG		0.413	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		A	115251231	C	A	115251231	3	1	784	1	0	0	0	0	1	0	0	0	10642	564	20	4	78	4	NRAS	1	115251231	Missense_Mutation	SNP	C	TCGA-SX-A71S-01A-11D-A33Q-10	245195	115251231	133999390	11	46426											
ZNF687	57592	hgsc.bcm.edu	37	1	151260816	151260816	+	Silent	SNP	G	G	T			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr1:151260816G>T	ENST00000368879.2	+	2	2147	c.2049G>T	c.(2047-2049)cgG>cgT	p.R683R		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	683					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)			AACAGTGCCGGGACAAGGCTG	0.652																																																0													20	21	20					1																	151260816		2201	4297	6498	SO:0001819	synonymous_variant	57592				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.2049G>T	chr1.hg19:g.151260816G>T			D3DV17|Q68DQ8|Q9H937|Q9P2A7	Silent	SNP	ENST00000368879.2	hg19		.	.	.	.	.	.	.	.	.	.	G	10.30	1.313509	0.23908	.	.	ENSG00000143373	ENST00000426871	.	.	.	4.96	-0.935	0.10423	.	.	.	.	.	T	0.45074	0.1324	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49093	-0.8975	4	.	.	.	.	11.7294	0.51728	0.0763:0.4559:0.4678:0.0	.	.	.	.	V	286	.	.	G	+	2	0	ZNF687	149527440	0.982000	0.34865	0.998000	0.56505	0.998000	0.95712	0.117000	0.15583	-0.015000	0.14150	0.561000	0.74099	GGG		0.652	ZNF687-201	KNOWN	basic	protein_coding	protein_coding		NM_020832		T	151260816	G	T	151260816	2	4	784	1	0	0	0	0	0	0	0	1	18097	1219	43	4		4	ZNF687	1	151260816	Silent	SNP	G	TCGA-SX-A71S-01A-11D-A33Q-10	36009585	151260816	97989805	12	46427											
SNX27	81609	hgsc.bcm.edu	37	1	151665956	151665956	+	Silent	SNP	A	A	G			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr1:151665956A>G	ENST00000458013.2	+	11	1695	c.1575A>G	c.(1573-1575)aaA>aaG	p.K525K	SNX27_ENST00000368838.1_Silent_p.K432K|SNX27_ENST00000368843.3_Silent_p.K525K			Q96L92	SNX27_HUMAN	sorting nexin family member 27	525	FERM-like region F3.				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)			AGTGGAGAAAAGAGGTAATTC	0.423																																					Colon(46;291 966 40145 41237 41888)											0													186	174	178					1																	151665956		2203	4300	6503	SO:0001819	synonymous_variant	81609			AB007957	CCDS1001.1	1q21.3	2008-03-11			ENSG00000143376	ENSG00000143376		"Sorting nexins"	20073	protein-coding gene	gene with protein product		611541				12461558	Standard	XM_005245509		Approved	MY014, KIAA0488, MGC20471	uc001eyn.1	Q96L92	OTTHUMG00000013052	ENST00000458013.2:c.1575A>G	chr1.hg19:g.151665956A>G			Q32Q36|Q4AEJ5|Q5VWB0|Q5VWB1|Q5VWB2|Q6IPP6|Q86UB1|Q96D79|Q9H3K8	Silent	SNP	ENST00000458013.2	hg19																																																																																					0.423	SNX27-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000036624.3	NM_030918		G	151665956	A	G	151665956	2	3	784	1	0	0	0	0	0	0	0	1	14903	69	3	3		3	SNX27	1	151665956	Silent	SNP	A	TCGA-SX-A71S-01A-11D-A33Q-10	405140	151665956	97584665	13	46428											
HDGF	3068	hgsc.bcm.edu	37	1	156713487	156713487	+	Missense_Mutation	SNP	T	T	A			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr1:156713487T>A	ENST00000357325.5	-	5	987	c.673A>T	c.(673-675)Acc>Tcc	p.T225S	HDGF_ENST00000416666.2_Missense_Mutation_p.T193S|HDGF_ENST00000537739.1_Missense_Mutation_p.T225S|HDGF_ENST00000368206.5_Missense_Mutation_p.T241S|MRPL24_ENST00000361531.2_5'Flank|HDGF_ENST00000368209.5_Missense_Mutation_p.T218S|HDGF_ENST00000465180.1_5'UTR|MRPL24_ENST00000368211.4_5'Flank	NM_004494.2	NP_004485.1	P51858	HDGF_HUMAN	hepatoma-derived growth factor	225	Glu-rich.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription corepressor binding (GO:0001222)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)		Colorectal(1306;0.018)		TCTTCCTTGGTAGcctcttcc	0.617																																																0													58	63	61					1																	156713487		2202	4300	6502	SO:0001583	missense	3068			D16431	CCDS1156.1, CCDS44247.1, CCDS44248.1	1q23.1	2013-10-14	2010-03-19		ENSG00000143321	ENSG00000143321			4856	protein-coding gene	gene with protein product	"high-mobility group protein 1-like"	600339	"hepatoma-derived growth factor (high-mobility group protein 1-like)"			8833162	Standard	NM_004494		Approved	HMG1L2	uc001fpy.4	P51858	OTTHUMG00000041295	ENST00000357325.5:c.673A>T	chr1.hg19:g.156713487T>A	ENSP00000349878:p.Thr225Ser		B3KU21|D3DVC9|Q5SZ07|Q5SZ08|Q5SZ09	Missense_Mutation	SNP	ENST00000357325.5	hg19	CCDS1156.1	.	.	.	.	.	.	.	.	.	.	T	6.574	0.474156	0.12521	.	.	ENSG00000143321	ENST00000357325;ENST00000368209;ENST00000537739;ENST00000416666;ENST00000368206;ENST00000406805	T;T;T;T;T	0.30448	1.99;1.54;1.99;1.57;1.53	4.51	-1.35	0.09114	.	1.112620	0.07019	U	0.826534	T	0.03695	0.0105	N	0.08118	0	0.20873	N	0.99984	B;B;B;B	0.16603	0.018;0.018;0.018;0.001	B;B;B;B	0.14578	0.011;0.011;0.007;0.003	T	0.40534	-0.9558	10	0.19147	T	0.46	-1.4395	4.2504	0.10691	0.0:0.3977:0.1699:0.4324	.	200;241;218;225	B7Z958;Q5SZ07;Q5SZ08;P51858	.;.;.;HDGF_HUMAN	S	225;218;225;193;241;248	ENSP00000349878:T225S;ENSP00000357192:T218S;ENSP00000443120:T225S;ENSP00000416752:T193S;ENSP00000357189:T241S	ENSP00000349878:T225S	T	-	1	0	HDGF	154980111	0.103000	0.21917	0.809000	0.32408	0.771000	0.43674	-0.486000	0.06513	-0.407000	0.07576	-0.602000	0.04101	ACC		0.617	HDGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098946.1	NM_004494		A	156713487	T	A	156713487	3	1	784	1	0	0	0	0	1	0	0	0	7020	1638	57	5	57	5	HDGF	1	156713487	Missense_Mutation	SNP	T	TCGA-SX-A71S-01A-11D-A33Q-10	5047531	156713487	92537134	14	46429											
PLEKHA6	22874	hgsc.bcm.edu	37	1	204237388	204237388	+	Missense_Mutation	SNP	A	A	G			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr1:204237388A>G	ENST00000272203.3	-	4	471	c.155T>C	c.(154-156)aTg>aCg	p.M52T	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.M52T	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	52										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)			GTTCCGCTTCATGGAGTGTGA	0.622																																																0													117	98	104					1																	204237388		2203	4300	6503	SO:0001583	missense	22874			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.155T>C	chr1.hg19:g.204237388A>G	ENSP00000272203:p.Met52Thr		A7MD51|Q5VTI6	Missense_Mutation	SNP	ENST00000272203.3	hg19	CCDS1444.1	.	.	.	.	.	.	.	.	.	.	A	17.34	3.364816	0.61513	.	.	ENSG00000143850	ENST00000272203;ENST00000414478	T;T	0.11385	2.78;2.78	5.67	5.67	0.87782	.	0.042149	0.85682	D	0.000000	T	0.17874	0.0429	M	0.72479	2.2	0.54753	D	0.999986	B	0.14805	0.011	B	0.21708	0.036	T	0.01345	-1.1379	10	0.72032	D	0.01	-31.4344	15.5746	0.76365	1.0:0.0:0.0:0.0	.	52	Q9Y2H5	PKHA6_HUMAN	T	52	ENSP00000272203:M52T;ENSP00000402046:M52T	ENSP00000272203:M52T	M	-	2	0	PLEKHA6	202504011	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.693000	0.84214	2.148000	0.66965	0.533000	0.62120	ATG		0.622	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087889.3	NM_014935		G	204237388	A	G	204237388	3	3	784	1	0	0	0	0	1	0	0	0	12062	217	8	3	3067	3	PLEKHA6	1	204237388	Missense_Mutation	SNP	A	TCGA-SX-A71S-01A-11D-A33Q-10	47523901	204237388	45013233	15	46430											
NENF	29937	hgsc.bcm.edu	37	1	212617777	212617777	+	Missense_Mutation	SNP	A	A	G			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr1:212617777A>G	ENST00000366988.3	+	3	392	c.335A>G	c.(334-336)cAt>cGt	p.H112R	NENF_ENST00000473900.1_3'UTR	NM_013349.4	NP_037481.1	Q9UMX5	NENF_HUMAN	neudesin neurotrophic factor	112	Cytochrome b5 heme-binding.				positive regulation of MAPK cascade (GO:0043410)	extracellular space (GO:0005615)	heme binding (GO:0020037)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(2)	4				all cancers(67;0.00967)|OV - Ovarian serous cystadenocarcinoma(81;0.0108)|GBM - Glioblastoma multiforme(131;0.0325)|Epithelial(68;0.132)		GACCTCACCCATGACACTGTG	0.478																																																0													85	76	79					1																	212617777		2203	4300	6503	SO:0001583	missense	29937				CCDS1505.1	1q32.3	2011-07-05	2011-07-05		ENSG00000117691	ENSG00000117691			30384	protein-coding gene	gene with protein product	"neudesin"	611874	"neuron derived neurotrophic factor"			9771976, 15605373	Standard	NM_013349		Approved	CIR2, SCIRP10, SPUF	uc001hjd.3	Q9UMX5	OTTHUMG00000036744	ENST00000366988.3:c.335A>G	chr1.hg19:g.212617777A>G	ENSP00000355955:p.His112Arg		A1KYQ8|Q53FZ6|Q5TM90	Missense_Mutation	SNP	ENST00000366988.3	hg19	CCDS1505.1	.	.	.	.	.	.	.	.	.	.	A	12.23	1.874425	0.33069	.	.	ENSG00000117691	ENST00000366988	T	0.76060	-0.99	5.2	5.2	0.72013	Cytochrome b5 (3);	0.229621	0.45361	D	0.000377	T	0.71484	0.3345	M	0.64997	1.995	0.41696	D	0.989376	P	0.39601	0.68	B	0.36378	0.223	T	0.75614	-0.3257	10	0.54805	T	0.06	-17.1208	15.0799	0.72106	1.0:0.0:0.0:0.0	.	112	Q9UMX5	NENF_HUMAN	R	112	ENSP00000355955:H112R	ENSP00000355955:H112R	H	+	2	0	NENF	210684400	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.415000	0.66411	1.965000	0.57142	0.491000	0.48974	CAT		0.478	NENF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089291.1	NM_013349		G	212617777	A	G	212617777	3	3	784	1	0	0	0	0	1	0	0	0	10337	217	8	3	345	3	NENF	1	212617777	Missense_Mutation	SNP	A	TCGA-SX-A71S-01A-11D-A33Q-10	8380389	212617777	36632844	16	46431											
EPRS	2058	hgsc.bcm.edu	37	1	220160681	220160681	+	Silent	SNP	T	T	A			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr1:220160681T>A	ENST00000366923.3	-	20	3110	c.2841A>T	c.(2839-2841)ggA>ggT	p.G947G	snoU13_ENST00000459217.1_RNA	NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	947	3 X 57 AA approximate repeats.|WHEP-TRS 3.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	TATACTCTACTCCTATCAAAG	0.378																																																0													82	81	82					1																	220160681		2203	4300	6503	SO:0001819	synonymous_variant	2058			X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"Aminoacyl tRNA synthetases / Class I", "Aminoacyl tRNA synthetases / Class II"	3418	protein-coding gene	gene with protein product	"glutamate tRNA ligase", "proline tRNA ligase"	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.2841A>T	chr1.hg19:g.220160681T>A			A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Silent	SNP	ENST00000366923.3	hg19	CCDS31027.1																																																																																				0.378	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2	NM_004446		A	220160681	T	A	220160681	2	1	784	1	0	0	0	0	0	0	0	1	5193	1538	54	5		5	EPRS	1	220160681	Silent	SNP	T	TCGA-SX-A71S-01A-11D-A33Q-10	7542904	220160681	29089940	17	46432											
C1orf69	200205	hgsc.bcm.edu	37	1	228362451	228362451	+	Missense_Mutation	SNP	G	G	A			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr1:228362451G>A	ENST00000366711.3	+	2	402	c.400G>A	c.(400-402)Ggc>Agc	p.G134S	IBA57_ENST00000546123.1_5'UTR|IBA57_ENST00000484749.1_3'UTR	NM_001010867.2	NP_001010867.1	Q5T440	CAF17_HUMAN	IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)	134					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						CTCGGTGCAGGGCGCGCTGCA	0.662																																																0													24	24	24					1																	228362451		2200	4297	6497	SO:0001583	missense	200205			AK022796	CCDS31046.1	1q42.13	2011-03-11	2011-03-11	2011-03-11	ENSG00000181873	ENSG00000181873			27302	protein-coding gene	gene with protein product	"iron-sulfur cluster assembly factor for biotin synthase- and aconitase-like mitochondrial proteins, with a mass of 57kDa"	615316	"chromosome 1 open reading frame 69"	C1orf69			Standard	NM_001010867		Approved	FLJ12734	uc001hsl.4	Q5T440	OTTHUMG00000039769	ENST00000366711.3:c.400G>A	chr1.hg19:g.228362451G>A	ENSP00000355672:p.Gly134Ser			Missense_Mutation	SNP	ENST00000366711.3	hg19	CCDS31046.1	.	.	.	.	.	.	.	.	.	.	G	8.657	0.899594	0.17686	.	.	ENSG00000181873	ENST00000366711	T	0.41065	1.01	4.65	2.75	0.32379	Glycine cleavage T-protein, N-terminal (1);	0.474372	0.24368	N	0.039124	T	0.26376	0.0644	N	0.21373	0.66	0.80722	D	1	B	0.12013	0.005	B	0.20384	0.029	T	0.04565	-1.0942	10	0.18276	T	0.48	-1.4742	10.0048	0.41951	0.076:0.1384:0.7856:0.0	.	134	Q5T440	CAF17_HUMAN	S	134	ENSP00000355672:G134S	ENSP00000355672:G134S	G	+	1	0	IBA57	226429074	0.998000	0.40836	0.000000	0.03702	0.095000	0.18619	4.116000	0.57871	0.562000	0.29204	0.655000	0.94253	GGC		0.662	IBA57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095980.1	NM_001010867		A	228362451	G	A	228362451	3	1	784	1	0	0	0	0	1	0	0	0	2059	1232	43	2	406	2	C1orf69	1	228362451	Missense_Mutation	SNP	G	TCGA-SX-A71S-01A-11D-A33Q-10	8201770	228362451	20888170	18	46433											
NCOA1	8648	hgsc.bcm.edu	37	2	24896243	24896243	+	Missense_Mutation	SNP	A	A	T			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr2:24896243A>T	ENST00000406961.1	+	7	917	c.265A>T	c.(265-267)Aca>Tca	p.T89S	NCOA1_ENST00000405141.1_Missense_Mutation_p.T89S|NCOA1_ENST00000348332.3_Missense_Mutation_p.T89S|NCOA1_ENST00000288599.5_Missense_Mutation_p.T89S|NCOA1_ENST00000407230.1_5'UTR|NCOA1_ENST00000395856.3_Missense_Mutation_p.T89S|RNU6-936P_ENST00000384005.1_RNA|NCOA1_ENST00000538539.1_Missense_Mutation_p.T89S			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	89					androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|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)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|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)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAGAAATCAACAACTGATGA	0.343			T	PAX3	alveolar rhadomyosarcoma																																		Dom	yes		2	2p23	8648	nuclear receptor coactivator 1		M	0													79	82	81					2																	24896243		2203	4300	6503	SO:0001583	missense	8648			U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.265A>T	chr2.hg19:g.24896243A>T	ENSP00000385216:p.Thr89Ser		O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Missense_Mutation	SNP	ENST00000406961.1	hg19	CCDS1712.1	.	.	.	.	.	.	.	.	.	.	A	7.169	0.587162	0.13812	.	.	ENSG00000084676	ENST00000406961;ENST00000405141;ENST00000538539;ENST00000348332;ENST00000288599;ENST00000395856	T;T;T;T;T;T	0.01629	4.72;4.72;4.72;4.72;4.72;4.72	4.84	3.68	0.42216	Helix-loop-helix DNA-binding (2);	0.320508	0.31612	N	0.007353	T	0.00580	0.0019	N	0.00446	-1.495	0.29426	N	0.860201	B;B;B	0.09022	0.002;0.001;0.002	B;B;B	0.14023	0.01;0.005;0.004	T	0.42816	-0.9429	10	0.18276	T	0.48	.	5.8454	0.18663	0.7718:0.0:0.2282:0.0	.	89;89;89	Q15788-3;Q15788;Q15788-2	.;NCOA1_HUMAN;.	S	89	ENSP00000385216:T89S;ENSP00000385097:T89S;ENSP00000444039:T89S;ENSP00000320940:T89S;ENSP00000288599:T89S;ENSP00000379197:T89S	ENSP00000288599:T89S	T	+	1	0	NCOA1	24749747	0.998000	0.40836	1.000000	0.80357	0.977000	0.68977	1.262000	0.32992	2.022000	0.59522	0.459000	0.35465	ACA		0.343	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3	NM_147223		T	24896243	A	T	24896243	3	4	784	1	0	0	0	0	1	0	0	0	10230	43	2	5	275	5	NCOA1	2	24896243	Missense_Mutation	SNP	A	TCGA-SX-A71S-01A-11D-A33Q-10		24896243	218303130	19	46434											
C2orf71	388939	hgsc.bcm.edu	37	2	29295391	29295391	+	Silent	SNP	G	G	A			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr2:29295391G>A	ENST00000331664.5	-	1	1736	c.1737C>T	c.(1735-1737)agC>agT	p.S579S		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	579					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						CACTTACCGTGCTAGGTCTTG	0.612																																																0													41	45	43					2																	29295391		2078	4215	6293	SO:0001819	synonymous_variant	388939				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.1737C>T	chr2.hg19:g.29295391G>A				Silent	SNP	ENST00000331664.5	hg19	CCDS42669.1																																																																																				0.612	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883		A	29295391	G	A	29295391	2	1	784	1	0	0	0	0	0	0	0	1	2193	1310	46	2		2	C2orf71	2	29295391	Silent	SNP	G	TCGA-SX-A71S-01A-11D-A33Q-10	4399148	29295391	213903982	20	46435											
SP3	6670	hgsc.bcm.edu	37	2	174820133	174820133	+	Silent	SNP	C	C	T			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr2:174820133C>T	ENST00000310015.6	-	4	1637	c.1107G>A	c.(1105-1107)caG>caA	p.Q369Q	SP3_ENST00000483084.1_5'Flank|SP3_ENST00000455789.2_Silent_p.Q316Q|SP3_ENST00000418194.2_Silent_p.Q301Q	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	369	Transactivation domain (Gln-rich).				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)			TATAATTTCCCTGAAGATCTG	0.408																																																0													79	76	77					2																	174820133		2203	4300	6503	SO:0001819	synonymous_variant	6670			M97191	CCDS2254.1, CCDS46452.1	2q31	2013-01-08			ENSG00000172845	ENSG00000172845		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	11208	protein-coding gene	gene with protein product		601804				1341900, 1454515	Standard	NM_003111		Approved	SPR-2	uc002uig.3	Q02447	OTTHUMG00000132333	ENST00000310015.6:c.1107G>A	chr2.hg19:g.174820133C>T			A0AVL9|B4E2B7|Q69B26|Q69B27|Q8TD56|Q8WWU4|Q9BQR1	Silent	SNP	ENST00000310015.6	hg19	CCDS2254.1	.	.	.	.	.	.	.	.	.	.	C	2.337	-0.351976	0.05173	.	.	ENSG00000172845	ENST00000416195	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	T	0.70937	0.3281	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69072	-0.5242	4	.	.	.	.	14.6237	0.68605	0.1457:0.8543:0.0:0.0	.	.	.	.	K	326	.	.	R	-	2	0	SP3	174528379	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.488000	0.45276	2.670000	0.90874	0.563000	0.77884	AGG		0.408	SP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255452.1	NM_003111		T	174820133	C	T	174820133	2	4	784	1	0	0	0	0	0	0	0	1	14971	680	24	2		2	SP3	2	174820133	Silent	SNP	C	TCGA-SX-A71S-01A-11D-A33Q-10	145524742	174820133	68379240	21	46436											
TTN	7273	hgsc.bcm.edu	37	2	179403955	179403955	+	Missense_Mutation	SNP	G	G	C			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr2:179403955G>C	ENST00000591111.1	-	303	94008	c.93784C>G	c.(93784-93786)Cct>Gct	p.P31262A	TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P30335A|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P23963A|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P23838A|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P32903A|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P24030A|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588257.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	31262	Fibronectin type-III 128. {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)			ACTTCTGGAGGATTGCTTGGA	0.423																																																0													97	88	91					2																	179403955		1895	4108	6003	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.93784C>G	chr2.hg19:g.179403955G>C	ENSP00000465570:p.Pro31262Ala		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	hg19		.	.	.	.	.	.	.	.	.	.	G	17.73	3.461654	0.63513	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.55930	0.49;0.49;0.49;0.49	6.04	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	0.63570	0.2522	L	0.56340	1.77	0.58432	D	0.999996	D;D;D;D	0.58970	0.984;0.984;0.984;0.984	P;P;P;P	0.56612	0.802;0.802;0.802;0.802	T	0.67699	-0.5603	9	0.87932	D	0	.	15.4494	0.75262	0.0663:0.0:0.9337:0.0	.	23838;23963;24030;31262	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	A	30335;23838;24030;23963;23835	ENSP00000343764:P30335A;ENSP00000434586:P23838A;ENSP00000340554:P24030A;ENSP00000352154:P23963A	ENSP00000340554:P24030A	P	-	1	0	TTN	179112201	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.869000	0.99810	1.571000	0.49722	0.563000	0.77884	CCT		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		C	179403955	G	C	179403955	3	2	784	1	0	0	0	0	1	0	0	0	16740	1174	41	4	9312	4	TTN	2	179403955	Missense_Mutation	SNP	G	TCGA-SX-A71S-01A-11D-A33Q-10	4583822	179403955	63795418	22	46437											
TTN	7273	hgsc.bcm.edu	37	2	179480386	179480388	+	In_Frame_Del	DEL	TTA	TTA	-			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	TTA	TTA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr2:179480386_179480388delTTA	ENST00000591111.1	-	208	43741_43743	c.43517_43519delTAA	c.(43516-43521)gtaaat>gat	p.14506_14507VN>D	TTN_ENST00000342992.6_In_Frame_Del_p.13579_13580VN>D|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_In_Frame_Del_p.7207_7208VN>D|TTN_ENST00000460472.2_In_Frame_Del_p.7082_7083VN>D|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_In_Frame_Del_p.16147_16148VN>D|TTN_ENST00000342175.6_In_Frame_Del_p.7274_7275VN>D|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14506	Fibronectin type-III 4. {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)			GTTGACATATTTACAGGTTCATC	0.384																																																0																																										SO:0001651	inframe_deletion	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.43517_43519delTAA	chr2.hg19:g.179480386_179480388delTTA	ENSP00000465570:p.Val14506_Asn14507delinsAsp		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	In_Frame_Del	DEL	ENST00000591111.1	hg19																																																																																					0.384	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		-	179480388	TTA	-	179480386	7	5	784	1	0	1	0	1	0	0	0	0	16740	1841	64	0	59671	0	TTN	2	179480386	In_Frame_Del	DEL	TTA	TCGA-SX-A71S-01A-11D-A33Q-10	76431	179480386	63718987	23	46438											
PARD3B	117583	hgsc.bcm.edu	37	2	206058030	206058030	+	Missense_Mutation	SNP	A	A	G			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr2:206058030A>G	ENST00000406610.2	+	15	2333	c.2126A>G	c.(2125-2127)aAg>aGg	p.K709R	PARD3B_ENST00000351153.1_Missense_Mutation_p.K709R|PARD3B_ENST00000358768.2_Missense_Mutation_p.K647R|PARD3B_ENST00000349953.3_Missense_Mutation_p.K709R|PARD3B_ENST00000462231.1_Missense_Mutation_p.K709R	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	709					cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		AAAGCCTCGAAGAGCATGGAC	0.478																																																0													63	62	62					2																	206058030		1957	4155	6112	SO:0001583	missense	117583			AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19", "par-3 partitioning defective 3 homolog B (C. elegans)"	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.2126A>G	chr2.hg19:g.206058030A>G	ENSP00000385848:p.Lys709Arg		E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Missense_Mutation	SNP	ENST00000406610.2	hg19		.	.	.	.	.	.	.	.	.	.	A	20.4	3.982851	0.74474	.	.	ENSG00000116117	ENST00000406610;ENST00000358768;ENST00000351153;ENST00000349953	T;T;T;T	0.17370	2.54;2.28;2.71;2.61	5.54	5.54	0.83059	.	0.129926	0.51477	D	0.000098	T	0.32255	0.0823	L	0.58428	1.81	0.43841	D	0.996422	P;D;P;D;P	0.54964	0.669;0.969;0.897;0.958;0.864	B;P;P;P;P	0.56163	0.19;0.585;0.574;0.793;0.523	T	0.01810	-1.1269	10	0.52906	T	0.07	.	14.5322	0.67934	1.0:0.0:0.0:0.0	.	709;709;709;647;709	Q8TEW8-3;Q8TEW8;E9PE87;Q8TEW8-2;Q8TEW8-5	.;PAR3L_HUMAN;.;.;.	R	709;647;709;709	ENSP00000385848:K709R;ENSP00000351618:K647R;ENSP00000317261:K709R;ENSP00000340280:K709R	ENSP00000340280:K709R	K	+	2	0	PARD3B	205766275	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	5.958000	0.70330	2.231000	0.72958	0.397000	0.26171	AAG		0.478	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177		G	206058030	A	G	206058030	3	3	784	1	0	0	0	0	1	0	0	0	11446	72	3	3	2184	3	PARD3B	2	206058030	Missense_Mutation	SNP	A	TCGA-SX-A71S-01A-11D-A33Q-10	26577644	206058030	37141343	24	46439											
UGT1A5	54579	hgsc.bcm.edu	37	2	234622434	234622434	+	Missense_Mutation	SNP	C	C	G			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr2:234622434C>G	ENST00000373414.3	+	1	797	c.797C>G	c.(796-798)cCc>cGc	p.P266R	UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A1_ENST00000608381.1_Missense_Mutation_p.P266R|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron			P35504	UD15_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A5	266						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		ATGGATTACCCCAGGCCGATC	0.517																																																0													109	124	119					2																	234622434		2201	4295	6496	SO:0001583	missense	54579			M84129	CCDS33404.1	2q37	2010-03-05	2005-07-20		ENSG00000240224	ENSG00000240224		"UDP glucuronosyltransferases"	12537	other	complex locus constituent		606430	"UDP glycosyltransferase 1 family, polypeptide A5"			9295054, 1339448	Standard	NM_019078		Approved	UGT1E		P35504	OTTHUMG00000059120	ENST00000373414.3:c.797C>G	chr2.hg19:g.234622434C>G	ENSP00000362513:p.Pro266Arg		B8K294	Missense_Mutation	SNP	ENST00000373414.3	hg19	CCDS33404.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.028709	0.75504	.	.	ENSG00000240224	ENST00000373414	T	0.80994	-1.44	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	D	0.93884	0.8043	H	0.98559	4.265	0.58432	D	0.999999	D;D	0.67145	0.996;0.996	D;D	0.72625	0.978;0.978	D	0.96616	0.9456	10	0.87932	D	0	.	17.7257	0.88364	0.0:1.0:0.0:0.0	.	266;266	Q5DSZ9;P35504	.;UD15_HUMAN	R	266	ENSP00000362513:P266R	ENSP00000362513:P266R	P	+	2	0	UGT1A5	234287173	1.000000	0.71417	0.987000	0.45799	0.594000	0.36715	7.529000	0.81952	2.189000	0.69895	0.561000	0.74099	CCC		0.517	UGT1A5-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130985.1	NM_019078		G	234622434	C	G	234622434	3	3	784	1	0	0	0	0	1	0	0	0	16953	623	22	4	799	4	UGT1A5	2	234622434	Missense_Mutation	SNP	C	TCGA-SX-A71S-01A-11D-A33Q-10	28564404	234622434	8576939	25	46440											
MYEOV2	150678	hgsc.bcm.edu	37	2	241073396	241073396	+	Missense_Mutation	SNP	C	C	A			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr2:241073396C>A	ENST00000607357.1	-	2	108	c.90G>T	c.(88-90)atG>atT	p.M30I	MYEOV2_ENST00000307266.3_Missense_Mutation_p.M61I|MYEOV2_ENST00000489698.1_5'UTR	NM_001163424.1	NP_001156896.1	Q8WXC6	MYOV2_HUMAN	myeloma overexpressed 2	30										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)		CTGCCAAGTCCATCAAGAGCC	0.488																																																0													106	112	110					2																	241073396		2203	4300	6503	SO:0001583	missense	150678			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.90G>T	chr2.hg19:g.241073396C>A	ENSP00000475979:p.Met30Ile		Q8N110	Missense_Mutation	SNP	ENST00000607357.1	hg19		.	.	.	.	.	.	.	.	.	.	C	18.15	3.558987	0.65538	.	.	ENSG00000172428	ENST00000307266;ENST00000403160	.	.	.	4.55	4.55	0.56014	.	0.000000	0.85682	U	0.000000	T	0.73705	0.3621	.	.	.	0.80722	D	1	B;P	0.44281	0.393;0.831	P;P	0.54664	0.584;0.758	T	0.77120	-0.2705	8	0.62326	D	0.03	-13.8025	15.1841	0.72986	0.0:1.0:0.0:0.0	.	30;61	Q8WXC6;Q8WXC6-1	MYOV2_HUMAN;.	I	61;51	.	ENSP00000304147:M61I	M	-	3	0	MYEOV2	240722069	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.087000	0.71362	2.240000	0.73641	0.650000	0.86243	ATG		0.488	MYEOV2-005	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470698.1	NM_138336		A	241073396	C	A	241073396	3	1	784	1	0	0	0	0	1	0	0	0	10028	594	21	4	595	4	MYEOV2	2	241073396	Missense_Mutation	SNP	C	TCGA-SX-A71S-01A-11D-A33Q-10	6450962	241073396	2125977	26	46441											
GOLGA4	2803	hgsc.bcm.edu	37	3	37366995	37366995	+	Missense_Mutation	SNP	T	T	A			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr3:37366995T>A	ENST00000361924.2	+	14	3992	c.3618T>A	c.(3616-3618)ttT>ttA	p.F1206L	GOLGA4_ENST00000356847.4_Missense_Mutation_p.F1228L|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1206	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						GCTTGGAATTTAAAAAACTGT	0.348																																																0													40	42	41					3																	37366995		2203	4299	6502	SO:0001583	missense	2803			U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"golgin 245"	602509	"golgi autoantigen, golgin subfamily a, 4"			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.3618T>A	chr3.hg19:g.37366995T>A	ENSP00000354486:p.Phe1206Leu		F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	ENST00000361924.2	hg19	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	T	3.525	-0.096941	0.07010	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	T;T;T	0.22134	1.98;1.97;1.97	5.53	2.29	0.28610	.	0.211412	0.24120	N	0.041370	T	0.12646	0.0307	L	0.47190	1.495	0.09310	N	1	B;B;B;B	0.15141	0.012;0.002;0.002;0.007	B;B;B;B	0.14578	0.011;0.003;0.006;0.01	T	0.37979	-0.9682	10	0.02654	T	1	.	4.6894	0.12772	0.0:0.4299:0.161:0.4091	.	1206;1206;1228;1206	Q13439-3;Q13439-4;F8W8Q7;Q13439	.;.;.;GOGA4_HUMAN	L	1206;1228;1077	ENSP00000354486:F1206L;ENSP00000349305:F1228L;ENSP00000405842:F1077L	ENSP00000349305:F1228L	F	+	3	2	GOLGA4	37341999	0.022000	0.18835	0.785000	0.31869	0.667000	0.39255	0.082000	0.14847	0.686000	0.31488	-0.468000	0.05107	TTT		0.348	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078		A	37366995	T	A	37366995	3	1	784	1	0	0	0	0	1	0	0	0	6557	1751	61	5	3742	5	GOLGA4	3	37366995	Missense_Mutation	SNP	T	TCGA-SX-A71S-01A-11D-A33Q-10		37366995	160655435	27	46442											
PLCD1	5333	hgsc.bcm.edu	37	3	38053124	38053124	+	Frame_Shift_Del	DEL	C	C	-			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr3:38053124delC	ENST00000334661.4	-	4	691	c.469delG	c.(469-471)gacfs	p.D157fs	Y_RNA_ENST00000363709.1_RNA|PLCD1_ENST00000479619.1_5'UTR|PLCD1_ENST00000463876.1_Frame_Shift_Del_p.D178fs	NM_006225.3	NP_006216.2	P51178	PLCD1_HUMAN	phospholipase C, delta 1	157	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTPase activating protein binding (GO:0032794)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol phosphate binding (GO:1901981)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylserine binding (GO:0001786)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		ATCTTGTTGTCCTTGTTTTTG	0.522																																																0													147	136	140					3																	38053124		2203	4300	6503	SO:0001589	frameshift_variant	5333				CCDS2671.1, CCDS46793.1	3p22-p21.3	2013-01-10			ENSG00000187091	ENSG00000187091	3.1.4.11	"EF-hand domain containing"	9060	protein-coding gene	gene with protein product		602142				9345909	Standard	NM_001130964		Approved		uc003chm.3	P51178	OTTHUMG00000130813	ENST00000334661.4:c.469delG	chr3.hg19:g.38053124delC	ENSP00000335600:p.Asp157fs		B3KR14|Q86VN8	Frame_Shift_Del	DEL	ENST00000334661.4	hg19	CCDS2671.1																																																																																				0.522	PLCD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253359.2			-	38053124	C	-	38053124	7	5	784	1	0	1	0	1	0	0	0	0	12033	855	30	0	1849	0	PLCD1	3	38053124	Frame_Shift_Del	DEL	C	TCGA-SX-A71S-01A-11D-A33Q-10	686129	38053124	159969306	28	46443											
CCR9	10803	hgsc.bcm.edu	37	3	45942619	45942619	+	Missense_Mutation	SNP	G	G	T			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr3:45942619G>T	ENST00000357632.2	+	3	519	c.339G>T	c.(337-339)aaG>aaT	p.K113N	CCR9_ENST00000355983.2_Missense_Mutation_p.K101N|LZTFL1_ENST00000536047.1_Intron|Y_RNA_ENST00000364765.1_RNA|CCR9_ENST00000395963.2_Missense_Mutation_p.K101N|LZTFL1_ENST00000539217.1_Intron|CCR9_ENST00000422395.1_3'UTR	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	113					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)		ACCAGTGGAAGTTCCAGACCT	0.483																																																0													200	188	192					3																	45942619		2203	4300	6503	SO:0001583	missense	10803			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.339G>T	chr3.hg19:g.45942619G>T	ENSP00000350256:p.Lys113Asn		Q4VBM3|Q549E0|Q9UQQ6	Missense_Mutation	SNP	ENST00000357632.2	hg19	CCDS2732.1	.	.	.	.	.	.	.	.	.	.	G	4.329	0.060379	0.08339	.	.	ENSG00000173585	ENST00000357632;ENST00000395963;ENST00000355983	T;T;T	0.37058	1.22;1.22;1.22	4.96	-3.74	0.04385	GPCR, rhodopsin-like superfamily (1);	0.949681	0.08862	N	0.882804	T	0.18299	0.0439	N	0.20685	0.6	0.09310	N	0.999997	B	0.14438	0.01	B	0.16722	0.016	T	0.28459	-1.0043	10	0.21014	T	0.42	.	5.4602	0.16612	0.1717:0.1145:0.5256:0.1882	.	113	P51686	CCR9_HUMAN	N	113;101;101	ENSP00000350256:K113N;ENSP00000379292:K101N;ENSP00000348260:K101N	ENSP00000348260:K101N	K	+	3	2	CCR9	45917623	0.000000	0.05858	0.343000	0.25615	0.801000	0.45260	-0.482000	0.06544	-0.736000	0.04831	-1.166000	0.01754	AAG		0.483	CCR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257323.2			T	45942619	G	T	45942619	3	4	784	1	0	0	0	0	1	0	0	0	2950	1020	36	4	345	4	CCR9	3	45942619	Missense_Mutation	SNP	G	TCGA-SX-A71S-01A-11D-A33Q-10	7889495	45942619	152079811	29	46444											
C3orf45	132228	hgsc.bcm.edu	37	3	50324199	50324199	+	Silent	SNP	C	C	T			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr3:50324199C>T	ENST00000316436.3	+	3	354	c.267C>T	c.(265-267)tgC>tgT	p.C89C		NM_153215.1	NP_694947.1	Q8N112	LSME2_HUMAN	leucine-rich single-pass membrane protein 2	89						integral component of membrane (GO:0016021)											AGGCTGGCTGCAGCCCTGTGT	0.632																																																0													78	76	76					3																	50324199		2203	4300	6503	SO:0001819	synonymous_variant	0			AK095927	CCDS2814.1	3p21.31	2013-03-08	2013-03-08	2013-03-08	ENSG00000179564	ENSG00000179564			26781	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 45"	C3orf45			Standard	NM_153215		Approved	FLJ38608	uc003cyz.3	Q8N112	OTTHUMG00000156938	ENST00000316436.3:c.267C>T	chr3.hg19:g.50324199C>T				Silent	SNP	ENST00000316436.3	hg19	CCDS2814.1																																																																																				0.632	LSMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346671.1	NM_153215		T	50324199	C	T	50324199	2	4	784	1	0	0	0	0	0	0	0	1	2233	718	25	2		2	C3orf45	3	50324199	Silent	SNP	C	TCGA-SX-A71S-01A-11D-A33Q-10	4381580	50324199	147698231	30	46445											
KIAA2018	205717	hgsc.bcm.edu	37	3	113376476	113376476	+	Silent	SNP	G	G	A			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr3:113376476G>A	ENST00000478658.1	-	5	4070	c.4053C>T	c.(4051-4053)ccC>ccT	p.P1351P	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Silent_p.P1351P			Q68DE3	K2018_HUMAN	KIAA2018	1351						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						CAAGCCTGAGGGGGGCTGGCT	0.473																																																0													99	97	98					3																	113376476		1966	4162	6128	SO:0001819	synonymous_variant	205717			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.4053C>T	chr3.hg19:g.113376476G>A			Q7Z3L9|Q8IVF3|Q9H8T4	Silent	SNP	ENST00000478658.1	hg19	CCDS43133.1																																																																																				0.473	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		A	113376476	G	A	113376476	2	1	784	1	0	0	0	0	0	0	0	1	8270	1219	43	2		2	KIAA2018	3	113376476	Silent	SNP	G	TCGA-SX-A71S-01A-11D-A33Q-10	63052277	113376476	84645954	31	46446											
GOLGB1	2804	hgsc.bcm.edu	37	3	121413729	121413729	+	Missense_Mutation	SNP	G	G	T			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr3:121413729G>T	ENST00000340645.5	-	13	5751	c.5626C>A	c.(5626-5628)Cag>Aag	p.Q1876K	GOLGB1_ENST00000393667.3_Missense_Mutation_p.Q1881K	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1876					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GTTGATATCTGACTCAGTAAG	0.368																																																0													133	150	144					3																	121413729		2203	4300	6503	SO:0001583	missense	2804			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.5626C>A	chr3.hg19:g.121413729G>T	ENSP00000341848:p.Gln1876Lys		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	hg19	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	G	6.523	0.464725	0.12402	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.15952	2.38;2.38	5.92	5.04	0.67666	.	0.129584	0.35407	N	0.003230	T	0.33411	0.0862	M	0.65975	2.015	0.35168	D	0.771267	D;B;B;D	0.67145	0.996;0.112;0.112;0.988	D;B;B;P	0.72982	0.979;0.032;0.032;0.794	T	0.44421	-0.9329	10	0.19590	T	0.45	.	8.3617	0.32363	0.0812:0.1576:0.7612:0.0	.	1801;1881;1881;1876	F1T0J2;E7EP74;B2ZZ91;Q14789	.;.;.;GOGB1_HUMAN	K	1876;1881	ENSP00000341848:Q1876K;ENSP00000377275:Q1881K	ENSP00000341848:Q1876K	Q	-	1	0	GOLGB1	122896419	0.004000	0.15560	0.986000	0.45419	0.247000	0.25773	0.789000	0.26886	1.459000	0.47892	0.650000	0.86243	CAG		0.368	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		T	121413729	G	T	121413729	3	4	784	1	0	0	0	0	1	0	0	0	6567	1299	45	4	4193	4	GOLGB1	3	121413729	Missense_Mutation	SNP	G	TCGA-SX-A71S-01A-11D-A33Q-10	8037253	121413729	76608701	32	46447											
MAGEF1	64110	hgsc.bcm.edu	37	3	184428920	184428920	+	Silent	SNP	A	A	C			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr3:184428920A>C	ENST00000317897.3	-	1	916	c.690T>G	c.(688-690)ccT>ccG	p.P230P		NM_022149.4	NP_071432.2	Q9HAY2	MAGF1_HUMAN	melanoma antigen family F, 1	230	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(143;4.61e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;5.64e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.56e-22)			GATTGGTGTGAGGCACCCGCC	0.488																																																0													53	60	58					3																	184428920		2203	4300	6503	SO:0001819	synonymous_variant	64110			AF295378	CCDS3269.1	3q13	2008-02-05			ENSG00000177383	ENSG00000177383			29639	protein-coding gene	gene with protein product		609267				11313144	Standard	NM_022149		Approved		uc003fpa.3	Q9HAY2	OTTHUMG00000156712	ENST00000317897.3:c.690T>G	chr3.hg19:g.184428920A>C			Q9H215	Silent	SNP	ENST00000317897.3	hg19	CCDS3269.1																																																																																				0.488	MAGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345417.1	NM_022149		C	184428920	A	C	184428920	2	2	784	1	0	0	0	0	0	0	0	1	9189	291	11	5		5	MAGEF1	3	184428920	Silent	SNP	A	TCGA-SX-A71S-01A-11D-A33Q-10	63015191	184428920	13593510	33	46448											
DGKG	1608	hgsc.bcm.edu	37	3	185969621	185969621	+	Missense_Mutation	SNP	A	A	G			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr3:185969621A>G	ENST00000265022.3	-	19	2227	c.1688T>C	c.(1687-1689)aTc>aCc	p.I563T	DGKG_ENST00000344484.4_Missense_Mutation_p.I538T|DGKG_ENST00000544847.1_Missense_Mutation_p.I504T|DGKG_ENST00000382164.4_Missense_Mutation_p.I524T	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	563	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				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)	CTCTCTGGGGATGACTTCCAG	0.507																																																0													183	170	174					3																	185969621		2203	4300	6503	SO:0001583	missense	1608			AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"EF-hand domain containing"	2853	protein-coding gene	gene with protein product		601854	"diacylglycerol kinase, gamma (90kD)"	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.1688T>C	chr3.hg19:g.185969621A>G	ENSP00000265022:p.Ile563Thr		B2RAH4|Q2M1H4|Q5FWG1	Missense_Mutation	SNP	ENST00000265022.3	hg19	CCDS3274.1	.	.	.	.	.	.	.	.	.	.	A	7.945	0.743641	0.15642	.	.	ENSG00000058866	ENST00000265022;ENST00000344484;ENST00000382164;ENST00000544847;ENST00000538691	D;D;D;T	0.83075	-1.5;-1.51;-1.68;-1.35	5.06	-0.278	0.12894	Diacylglycerol kinase, catalytic domain (1);	0.549028	0.18794	N	0.130972	T	0.56702	0.2003	N	0.04335	-0.225	0.34056	D	0.656773	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.12837	0.004;0.008;0.004;0.002	T	0.47861	-0.9084	10	0.11485	T	0.65	.	5.7195	0.17978	0.5853:0.2645:0.1503:0.0	.	504;538;524;563	F5GX27;P49619-2;P49619-3;P49619	.;.;.;DGKG_HUMAN	T	563;538;524;504;527	ENSP00000265022:I563T;ENSP00000339777:I538T;ENSP00000371599:I524T;ENSP00000440507:I504T	ENSP00000265022:I563T	I	-	2	0	DGKG	187452315	0.998000	0.40836	0.994000	0.49952	0.996000	0.88848	1.589000	0.36644	0.065000	0.16485	0.383000	0.25322	ATC		0.507	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344800.3			G	185969621	A	G	185969621	3	3	784	1	0	0	0	0	1	0	0	0	4471	333	12	3	715	3	DGKG	3	185969621	Missense_Mutation	SNP	A	TCGA-SX-A71S-01A-11D-A33Q-10	1540701	185969621	12052809	34	46449											
PCDH10	57575	hgsc.bcm.edu	37	4	134072496	134072496	+	Missense_Mutation	SNP	G	G	T			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr4:134072496G>T	ENST00000264360.5	+	1	2027	c.1201G>T	c.(1201-1203)Gtg>Ttg	p.V401L	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	401	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)		ACTGGGAGACGTGCCTTTCCG	0.607																																																0													139	140	140					4																	134072496		2203	4300	6503	SO:0001583	missense	57575			AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"Cadherins / Protocadherins : Non-clustered"	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1201G>T	chr4.hg19:g.134072496G>T	ENSP00000264360:p.Val401Leu		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	hg19	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	G	9.624	1.134716	0.21123	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.51071	0.72	4.68	4.68	0.58851	Cadherin (4);Cadherin-like (1);	0.000000	0.40818	N	0.001004	T	0.44685	0.1305	L	0.35487	1.065	0.52501	D	0.999955	P;B	0.36354	0.549;0.004	P;B	0.46659	0.523;0.018	T	0.18429	-1.0337	10	0.05721	T	0.95	.	17.3997	0.87456	0.0:0.0:1.0:0.0	.	401;401	Q9P2E7;Q96SF0	PCD10_HUMAN;.	L	401	ENSP00000264360:V401L	ENSP00000264360:V401L	V	+	1	0	PCDH10	134291946	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.674000	0.83992	2.423000	0.82170	0.561000	0.74099	GTG		0.607	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		T	134072496	G	T	134072496	3	4	784	1	0	0	0	0	1	0	0	0	11509	1145	40	4	1203	4	PCDH10	4	134072496	Missense_Mutation	SNP	G	TCGA-SX-A71S-01A-11D-A33Q-10		134072496	57081780	35	46450											
GPM6A	2823	hgsc.bcm.edu	37	4	176556203	176556203	+	Missense_Mutation	SNP	G	G	T			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr4:176556203G>T	ENST00000280187.7	-	8	735	c.690C>A	c.(688-690)caC>caA	p.H230Q	GPM6A_ENST00000393658.2_Missense_Mutation_p.H230Q|GPM6A_ENST00000515090.1_Missense_Mutation_p.H223Q|GPM6A_ENST00000506894.1_Missense_Mutation_p.H219Q|GPM6A_ENST00000506219.1_5'UTR	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	230					neural retina development (GO:0003407)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|positive regulation of filopodium assembly (GO:0051491)|stem cell differentiation (GO:0048863)|synapse assembly (GO:0007416)	axonal growth cone (GO:0044295)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium channel activity (GO:0005262)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		CCATAAGGTAGTGAACCTAAT	0.403																																																0													61	59	59					4																	176556203		2203	4300	6503	SO:0001583	missense	2823				CCDS3824.1, CCDS54822.1, CCDS58936.1	4q34	2008-08-29				ENSG00000150625			4460	protein-coding gene	gene with protein product		601275		GPM6		8661015, 18574501	Standard	NM_005277		Approved		uc003iug.4	P51674		ENST00000280187.7:c.690C>A	chr4.hg19:g.176556203G>T	ENSP00000280187:p.His230Gln		B7Z642|E9PHI5|Q92602	Missense_Mutation	SNP	ENST00000280187.7	hg19	CCDS3824.1	.	.	.	.	.	.	.	.	.	.	G	18.86	3.714211	0.68730	.	.	ENSG00000150625	ENST00000280187;ENST00000393658;ENST00000506894;ENST00000515090	D;D;D;D	0.99176	-5.52;-5.52;-5.52;-5.52	5.77	4.92	0.64577	.	0.000000	0.85682	D	0.000000	D	0.98651	0.9548	L	0.55990	1.75	0.80722	D	1	D;D;D	0.69078	0.997;0.997;0.997	D;D;D	0.81914	0.995;0.995;0.995	D	0.96785	0.9578	10	0.26408	T	0.33	-20.0308	10.7457	0.46179	0.1426:0.0:0.8574:0.0	.	223;219;230	B7Z642;E9PHI5;P51674	.;.;GPM6A_HUMAN	Q	230;230;219;223	ENSP00000280187:H230Q;ENSP00000377268:H230Q;ENSP00000421578:H219Q;ENSP00000423984:H223Q	ENSP00000280187:H230Q	H	-	3	2	GPM6A	176793197	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.806000	0.38892	2.885000	0.99019	0.655000	0.94253	CAC		0.403	GPM6A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362163.1			T	176556203	G	T	176556203	3	4	784	1	0	0	0	0	1	0	0	0	6617	1020	36	4	150	4	GPM6A	4	176556203	Missense_Mutation	SNP	G	TCGA-SX-A71S-01A-11D-A33Q-10	42483707	176556203	14598073	36	46451											
WDR17	116966	hgsc.bcm.edu	37	4	177098622	177098622	+	Splice_Site	SNP	A	A	G			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr4:177098622A>G	ENST00000280190.4	+	30	3822	c.3666A>G	c.(3664-3666)agA>agG	p.R1222R	WDR17_ENST00000393643.2_Splice_Site_p.R1198R|WDR17_ENST00000507824.2_Splice_Site_p.R1197R|WDR17_ENST00000508596.1_Splice_Site_p.R1183R			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	1222										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)		GAAAATATAGATCATTAGAAG	0.299																																																0													60	69	66					4																	177098622		2201	4296	6497	SO:0001630	splice_region_variant	116966			AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"WD repeat domain containing"	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.3666-1A>G	chr4.hg19:g.177098622A>G			E7EQX0|Q0QD35	Silent	SNP	ENST00000280190.4	hg19	CCDS3825.1	.	.	.	.	.	.	.	.	.	.	A	9.886	1.202950	0.22121	.	.	ENSG00000150627	ENST00000443118	.	.	.	5.6	0.312	0.15837	.	.	.	.	.	T	0.51483	0.1677	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36915	-0.9728	4	.	.	.	.	5.914	0.19045	0.5729:0.2349:0.1922:0.0	.	.	.	.	V	457	.	.	I	+	1	0	WDR17	177335616	0.984000	0.35163	0.979000	0.43373	0.803000	0.45373	0.955000	0.29188	-0.046000	0.13446	0.524000	0.50904	ATC		0.299	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2		Silent	G	177098622	A	G	177098622	5	3	784	1	0	0	0	0	0	0	1	0	17282	347	12	3	3780	3	WDR17	4	177098622	Splice_Site	SNP	A	TCGA-SX-A71S-01A-11D-A33Q-10	542419	177098622	14055654	37	46452											
PLEKHG4B	153478	hgsc.bcm.edu	37	5	163420	163421	+	Missense_Mutation	DNP	AA	AA	TT			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr5:163420_163421AA>TT	ENST00000283426.6	+	11	2215_2216	c.2165_2166AA>TT	c.(2164-2166)aAA>aTT	p.K722I		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	722							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)		CCCCAGAAGAAAATGATAAAGA	0.609																																																0																																										SO:0001583	missense	153478			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	Exception_encountered	chr5.hg19:g.163420_163421delinsTT	ENSP00000283426:p.Lys722Ile			Missense_Mutation	SNP	ENST00000283426.6	hg19	CCDS34124.1																																																																																				0.609	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909		TT	163421	AA	TT	163420	3	4	784	1	0	0	0	0	1	0	0	0	12074	14	1	5	2207	5	PLEKHG4B	5	163420	Missense_Mutation	DNP	AA	TCGA-SX-A71S-01A-11D-A33Q-10		163420	180751840	38	46453											
NIPBL	25836	hgsc.bcm.edu	37	5	37049326	37049326	+	Missense_Mutation	SNP	A	A	G			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr5:37049326A>G	ENST00000282516.8	+	40	7376	c.6877A>G	c.(6877-6879)Acc>Gcc	p.T2293A	NIPBL_ENST00000448238.2_Missense_Mutation_p.T2293A	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2293					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)			ATTTTTTCACACCCAGTCAAG	0.413																																																0													224	213	216					5																	37049326		2203	4300	6503	SO:0001583	missense	25836			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"sister chromatid cohesion 2 homolog (yeast)"	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.6877A>G	chr5.hg19:g.37049326A>G	ENSP00000282516:p.Thr2293Ala		Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	hg19	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	A	7.931	0.740748	0.15642	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.95307	-3.67;-3.67	5.55	5.55	0.83447	Armadillo-like helical (1);Armadillo-type fold (1);	0.052442	0.64402	D	0.000001	D	0.88194	0.6371	N	0.11560	0.145	0.40370	D	0.979331	B;B	0.25486	0.127;0.104	B;B	0.33960	0.173;0.084	D	0.84616	0.0681	10	0.07990	T	0.79	-4.9512	15.6935	0.77473	1.0:0.0:0.0:0.0	.	2293;2293	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	A	2293	ENSP00000282516:T2293A;ENSP00000406266:T2293A	ENSP00000282516:T2293A	T	+	1	0	NIPBL	37085083	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.929000	0.70096	2.109000	0.64355	0.477000	0.44152	ACC		0.413	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		G	37049326	A	G	37049326	3	3	784	1	0	0	0	0	1	0	0	0	10430	159	6	3	7031	3	NIPBL	5	37049326	Missense_Mutation	SNP	A	TCGA-SX-A71S-01A-11D-A33Q-10	36885906	37049326	143865934	39	46454											
MAST4	375449	hgsc.bcm.edu	37	5	66461904	66461904	+	Silent	SNP	G	G	A			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr5:66461904G>A	ENST00000403625.2	+	29	7192	c.6897G>A	c.(6895-6897)gaG>gaA	p.E2299E	MAST4_ENST00000405643.1_Silent_p.E2120E|MAST4_ENST00000261569.7_Silent_p.E2105E|MAST4_ENST00000403666.1_Silent_p.E2110E|MAST4_ENST00000404260.3_Silent_p.E2302E	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2302						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)		AGGTGCTGGAGAAGCCTGTGC	0.622											OREG0016638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													21	27	25					5																	66461904		1916	4110	6026	SO:0001819	synonymous_variant	375449			AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.6897G>A	chr5.hg19:g.66461904G>A		1092	A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Silent	SNP	ENST00000403625.2	hg19	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	G	2.764	-0.257184	0.05791	.	.	ENSG00000069020	ENST00000443808	T	0.04862	3.54	4.27	1.4	0.22301	.	0.737317	0.12126	N	0.497250	T	0.08447	0.0210	.	.	.	0.19300	N	0.99998	.	.	.	.	.	.	T	0.30679	-0.9970	7	0.66056	D	0.02	-8.1738	6.124	0.20170	0.1728:0.293:0.5342:0.0	.	.	.	.	K	1356	ENSP00000400551:E1356K	ENSP00000400551:E1356K	E	+	1	0	MAST4	66497660	0.738000	0.28186	0.006000	0.13384	0.014000	0.08584	0.180000	0.16860	0.511000	0.28236	0.462000	0.41574	GAA		0.622	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			A	66461904	G	A	66461904	2	1	784	1	0	0	0	0	0	0	0	1	9329	933	33	2		2	MAST4	5	66461904	Silent	SNP	G	TCGA-SX-A71S-01A-11D-A33Q-10	29412578	66461904	114453356	40	46455											
CD180	4064	hgsc.bcm.edu	37	5	66479076	66479076	+	Missense_Mutation	SNP	A	A	G			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr5:66479076A>G	ENST00000256447.4	-	3	1752	c.1595T>C	c.(1594-1596)cTg>cCg	p.L532P	CTD-2306M10.1_ENST00000602471.1_lincRNA	NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	532					B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		GTCGCATGTCAGGCTGTTGTG	0.473																																																0													87	59	68					5																	66479076		2203	4300	6503	SO:0001583	missense	4064			D83597	CCDS3992.1	5q12	2008-02-05	2006-03-28	2005-06-07	ENSG00000134061	ENSG00000134061		"CD molecules"	6726	protein-coding gene	gene with protein product		602226	"lymphocyte antigen 64 (mouse) homolog, radioprotective, 105kD", "CD180 antigen"	LY64		9763566, 8975706	Standard	NM_005582		Approved	RP105, Ly78	uc003juy.2	Q99467	OTTHUMG00000131229	ENST00000256447.4:c.1595T>C	chr5.hg19:g.66479076A>G	ENSP00000256447:p.Leu532Pro		B2R7Z7|Q32MM5	Missense_Mutation	SNP	ENST00000256447.4	hg19	CCDS3992.1	.	.	.	.	.	.	.	.	.	.	A	15.88	2.962783	0.53507	.	.	ENSG00000134061	ENST00000256447	T	0.69435	-0.4	4.95	4.95	0.65309	.	0.117810	0.35378	N	0.003258	D	0.87148	0.6105	H	0.96301	3.8	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.91268	0.5042	10	0.87932	D	0	.	14.7906	0.69841	1.0:0.0:0.0:0.0	.	532	Q99467	CD180_HUMAN	P	532	ENSP00000256447:L532P	ENSP00000256447:L532P	L	-	2	0	CD180	66514832	0.728000	0.28080	0.946000	0.38457	0.663000	0.39108	6.357000	0.73051	2.076000	0.62316	0.460000	0.39030	CTG		0.473	CD180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253973.2	NM_005582		G	66479076	A	G	66479076	3	3	784	1	0	0	0	0	1	0	0	0	2974	188	7	3	394	3	CD180	5	66479076	Missense_Mutation	SNP	A	TCGA-SX-A71S-01A-11D-A33Q-10	17172	66479076	114436184	41	46456											
NRG2	9542	hgsc.bcm.edu	37	5	139422438	139422438	+	Missense_Mutation	SNP	G	G	T			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr5:139422438G>T	ENST00000361474.1	-	1	441	c.217C>A	c.(217-219)Ccc>Acc	p.P73T	NRG2_ENST00000541337.1_Missense_Mutation_p.P73T|NRG2_ENST00000289409.4_Missense_Mutation_p.P73T|NRG2_ENST00000394770.1_Missense_Mutation_p.P73T|NRG2_ENST00000545385.1_Missense_Mutation_p.P73T|NRG2_ENST00000289422.7_Missense_Mutation_p.P73T|NRG2_ENST00000358522.3_Missense_Mutation_p.P73T	NM_004883.2	NP_004874.1	O14511	NRG2_HUMAN	neuregulin 2	73					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)			gggctgcggggctgcggCTGT	0.746																																																0													1	2	1					5																	139422438		838	1656	2494	SO:0001583	missense	9542				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.217C>A	chr5.hg19:g.139422438G>T	ENSP00000354910:p.Pro73Thr			Missense_Mutation	SNP	ENST00000361474.1	hg19	CCDS4217.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.122733	0.37436	.	.	ENSG00000158458	ENST00000541337;ENST00000289422;ENST00000361474;ENST00000446269;ENST00000545385;ENST00000394770;ENST00000289409;ENST00000358522;ENST00000378238	T;T;T;T;T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32;-1.32;-1.32;-1.32;-1.32	4.1	4.1	0.47936	.	1.266670	0.05928	N	0.634708	T	0.66025	0.2748	N	0.08118	0	0.38024	D	0.934932	B;B;B;B	0.33103	0.397;0.276;0.397;0.397	B;B;B;B	0.31614	0.133;0.037;0.133;0.08	T	0.51076	-0.8751	10	0.15066	T	0.55	-6.9595	14.2466	0.65993	0.0:0.0:1.0:0.0	.	73;73;73;73	O14511-2;O14511;O14511-4;O14511-3	.;NRG2_HUMAN;.;.	T	73	ENSP00000444235:P73T;ENSP00000289422:P73T;ENSP00000354910:P73T;ENSP00000438753:P73T;ENSP00000378251:P73T;ENSP00000289409:P73T;ENSP00000351323:P73T;ENSP00000367483:P73T	ENSP00000289409:P73T	P	-	1	0	NRG2	139402622	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	6.579000	0.74036	2.133000	0.65898	0.491000	0.48974	CCC		0.746	NRG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251340.1	NM_013982		T	139422438	G	T	139422438	3	4	784	1	0	0	0	0	1	0	0	0	10650	1203	42	4	2466	4	NRG2	5	139422438	Missense_Mutation	SNP	G	TCGA-SX-A71S-01A-11D-A33Q-10	72943362	139422438	41492822	42	46457											
PCDHGC3	5098	hgsc.bcm.edu	37	5	140857046	140857046	+	Missense_Mutation	SNP	C	C	T			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr5:140857046C>T	ENST00000308177.3	+	1	1467	c.1363C>T	c.(1363-1365)Cca>Tca	p.P455S	PCDHGA12_ENST00000252085.3_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000398587.2_Intron|RN7SL68P_ENST00000488078.2_RNA|PCDHGB1_ENST00000523390.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	455	Cadherin 4. {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)			TGACAACCCTCCACAATCTTC	0.527																																																0													146	149	148					5																	140857046		2203	4300	6503	SO:0001583	missense	5098			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.1363C>T	chr5.hg19:g.140857046C>T	ENSP00000312070:p.Pro455Ser		O60622|Q08192|Q9Y5C4	Missense_Mutation	SNP	ENST00000308177.3	hg19	CCDS4261.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.050852	0.75960	.	.	ENSG00000240184	ENST00000308177	D	0.84800	-1.9	5.19	5.19	0.71726	Cadherin (5);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.96821	0.8962	H	0.99948	5.02	0.46586	D	0.999111	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	D	0.98483	1.0606	9	0.87932	D	0	.	19.2755	0.94030	0.0:1.0:0.0:0.0	.	455;455	Q9UN70;Q9UN70-2	PCDGK_HUMAN;.	S	455	ENSP00000312070:P455S	ENSP00000312070:P455S	P	+	1	0	PCDHGC3	140837230	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.575000	0.82447	2.865000	0.98341	0.655000	0.94253	CCA		0.527	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251808.2	NM_002588		T	140857046	C	T	140857046	3	4	784	1	0	0	0	0	1	0	0	0	11571	855	30	2	1365	2	PCDHGC3	5	140857046	Missense_Mutation	SNP	C	TCGA-SX-A71S-01A-11D-A33Q-10	1434608	140857046	40058214	43	46458											
SLC36A2	153201	hgsc.bcm.edu	37	5	150726918	150726918	+	Missense_Mutation	SNP	G	G	C			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr5:150726918G>C	ENST00000335244.4	-	1	233	c.104C>G	c.(103-105)tCt>tGt	p.S35C	SLC36A2_ENST00000521967.1_Missense_Mutation_p.S35C	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	35					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)	CAAGAATGTAGAGTCCTTGTT	0.478																																																0													206	200	202					5																	150726918		2203	4300	6503	SO:0001583	missense	153201			AY162214	CCDS4315.1	5q33.1	2013-05-22			ENSG00000186335	ENSG00000186335		"Solute carriers"	18762	protein-coding gene	gene with protein product		608331				11959859	Standard	NM_181776		Approved	PAT2, tramdorin, TRAMD1	uc003lty.3	Q495M3	OTTHUMG00000130129	ENST00000335244.4:c.104C>G	chr5.hg19:g.150726918G>C	ENSP00000334223:p.Ser35Cys		Q495M4|Q495M6|Q6ZWK5|Q7Z6B5	Missense_Mutation	SNP	ENST00000335244.4	hg19	CCDS4315.1	.	.	.	.	.	.	.	.	.	.	G	10.73	1.432660	0.25813	.	.	ENSG00000186335	ENST00000335244;ENST00000521967	T;T	0.10960	3.63;2.82	4.87	2.96	0.34315	.	0.318730	0.31188	N	0.008086	T	0.11965	0.0291	N	0.24115	0.695	0.09310	N	0.999999	D;D;P	0.69078	0.997;0.969;0.829	P;P;P	0.56865	0.808;0.682;0.502	T	0.05550	-1.0878	10	0.52906	T	0.07	-9.6566	5.61	0.17400	0.0989:0.0:0.7072:0.1939	.	35;35;35	B4DMY0;E5RJJ5;Q495M3	.;.;S36A2_HUMAN	C	35	ENSP00000334223:S35C;ENSP00000430535:S35C	ENSP00000334223:S35C	S	-	2	0	SLC36A2	150707111	0.031000	0.19500	0.015000	0.15790	0.074000	0.17049	1.709000	0.37909	1.405000	0.46838	0.655000	0.94253	TCT		0.478	SLC36A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252437.1			C	150726918	G	C	150726918	3	2	784	1	0	0	0	0	1	0	0	0	14600	942	33	4	1387	4	SLC36A2	5	150726918	Missense_Mutation	SNP	G	TCGA-SX-A71S-01A-11D-A33Q-10	9869872	150726918	30188342	44	46459											
UIMC1	51720	hgsc.bcm.edu	37	5	176395811	176395811	+	Silent	SNP	A	A	T			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr5:176395811A>T	ENST00000377227.4	-	6	1077	c.945T>A	c.(943-945)ctT>ctA	p.L315L	UIMC1_ENST00000511320.1_Silent_p.L315L|UIMC1_ENST00000377219.2_Silent_p.L315L|UIMC1_ENST00000503273.1_5'UTR|UIMC1_ENST00000506128.1_Intron			Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	315	AIR.				double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|histone H2A K63-linked deubiquitination (GO:0070537)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of DNA repair (GO:0045739)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)	BRCA1-A complex (GO:0070531)|nucleus (GO:0005634)	histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)			NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTTTTTTATTAAGGAGCTGCC	0.458																																																0													59	60	60					5																	176395811		2203	4300	6503	SO:0001819	synonymous_variant	51720			AF349313	CCDS4408.1	5q35.2	2008-02-05			ENSG00000087206	ENSG00000087206			30298	protein-coding gene	gene with protein product	"receptor associated protein 80"	609433				12080054	Standard	NM_001199297		Approved	RAP80	uc021yin.1	Q96RL1	OTTHUMG00000130852	ENST00000377227.4:c.945T>A	chr5.hg19:g.176395811A>T			A8MSA1|B3KMZ1|B4E3N2|Q5XKQ1|Q7Z3W7|Q8N5B9|Q9BZR1|Q9BZR5|Q9UHX7	Silent	SNP	ENST00000377227.4	hg19	CCDS4408.1																																																																																				0.458	UIMC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253422.1	NM_016290		T	176395811	A	T	176395811	2	4	784	1	0	0	0	0	0	0	0	1	16976	349	13	5		5	UIMC1	5	176395811	Silent	SNP	A	TCGA-SX-A71S-01A-11D-A33Q-10	25668893	176395811	4519449	45	46460											
C6orf27	80737	hgsc.bcm.edu	37	6	31744458	31744458	+	Missense_Mutation	SNP	G	G	C			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr6:31744458G>C	ENST00000375688.4	-	2	299	c.99C>G	c.(97-99)atC>atG	p.I33M	VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000375686.3_Missense_Mutation_p.I33M|Y_RNA_ENST00000364685.1_RNA|VWA7_ENST00000447450.1_Missense_Mutation_p.I33M			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7	33						extracellular region (GO:0005576)											GCAGGCTCCAGATGTTGGGGA	0.652																																																0													11	6	8					6																	31744458		1433	2570	4003	SO:0001583	missense	80737				CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396			13939	protein-coding gene	gene with protein product		609693	"chromosome 6 open reading frame 27"	C6orf27			Standard	NM_025258		Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132	ENST00000375688.4:c.99C>G	chr6.hg19:g.31744458G>C	ENSP00000364840:p.Ile33Met		A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	Missense_Mutation	SNP	ENST00000375688.4	hg19	CCDS4721.2	.	.	.	.	.	.	.	.	.	.	G	17.62	3.433786	0.62955	.	.	ENSG00000204396	ENST00000375688;ENST00000375686;ENST00000447450	T;T;T	0.14893	2.47;2.47;2.47	5.07	5.07	0.68467	.	0.189670	0.43747	D	0.000529	T	0.11452	0.0279	L	0.36672	1.1	0.31565	N	0.657011	P	0.41131	0.739	P	0.44518	0.452	T	0.01675	-1.1298	10	0.72032	D	0.01	-11.1767	15.9908	0.80202	0.0:0.0:1.0:0.0	.	33	Q9Y334	G7C_HUMAN	M	33	ENSP00000364840:I33M;ENSP00000364838:I33M;ENSP00000390554:I33M	ENSP00000364838:I33M	I	-	3	3	C6orf27	31852437	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.076000	0.41548	2.646000	0.89796	0.557000	0.71058	ATC		0.652	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076233.2	NM_025258		C	31744458	G	C	31744458	3	2	784	1	0	0	0	0	1	0	0	0	2364	932	33	4	2639	4	C6orf27	6	31744458	Missense_Mutation	SNP	G	TCGA-SX-A71S-01A-11D-A33Q-10		31744458	139370609	46	46461											
PPT2	9374	hgsc.bcm.edu	37	6	32122818	32122818	+	Silent	SNP	G	G	T			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr6:32122818G>T	ENST00000324816.6	+	3	763	c.195G>T	c.(193-195)ggG>ggT	p.G65G	PPT2-EGFL8_ENST00000453656.2_3'UTR|PRRT1_ENST00000375152.2_5'Flank|PPT2_ENST00000375137.2_Silent_p.G65G|PPT2_ENST00000375143.2_Silent_p.G65G|PRRT1_ENST00000375150.2_5'Flank|PPT2_ENST00000395523.1_Silent_p.G65G|PPT2_ENST00000493548.1_3'UTR|PPT2_ENST00000437001.2_Intron|PPT2_ENST00000361568.2_Silent_p.G71G|PPT2_ENST00000445576.2_Silent_p.G65G|PPT2-EGFL8_ENST00000422437.1_Silent_p.G65G			Q9UMR5	PPT2_HUMAN	palmitoyl-protein thioesterase 2	65					cellular protein modification process (GO:0006464)|macromolecule depalmitoylation (GO:0098734)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	palmitoyl hydrolase activity (GO:0098599)|palmitoyl-(protein) hydrolase activity (GO:0008474)|thiolester hydrolase activity (GO:0016790)			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	17						CACACCCCGGGACTGTGGTGA	0.622																																																0													75	72	73					6																	32122818		1509	2708	4217	SO:0001819	synonymous_variant	9374			AF020543	CCDS4740.1, CCDS4742.1	6p21.3	2012-07-02			ENSG00000221988	ENSG00000221988	3.1.2.22		9326	protein-coding gene	gene with protein product		603298				9341199, 10051407	Standard	NM_138717		Approved		uc003nzw.3	Q9UMR5	OTTHUMG00000031257	ENST00000324816.6:c.195G>T	chr6.hg19:g.32122818G>T			A2ABC9|A2ABD1|A2ARM7|A2BFH7|A2BFH9|A2BFI2|A8K9L4|B0S868|G8JLE1|O14799|Q0P6K0|Q5JP13|Q5JP14|Q5JQF0|Q5SSX4|Q5SSX5|Q5SSX6|Q5STJ4|Q5STJ5|Q5STJ6|Q6FI80|Q99945	Silent	SNP	ENST00000324816.6	hg19	CCDS4742.1																																																																																				0.622	PPT2-207	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076552.4	NM_138717		T	32122818	G	T	32122818	2	4	784	1	0	0	0	0	0	0	0	1	12417	1161	41	4		4	PPT2	6	32122818	Silent	SNP	G	TCGA-SX-A71S-01A-11D-A33Q-10	378360	32122818	138992249	47	46462											
TRERF1	55809	hgsc.bcm.edu	37	6	42204006	42204006	+	Silent	SNP	C	C	A			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr6:42204006C>A	ENST00000372922.4	-	16	3565	c.3003G>T	c.(3001-3003)ccG>ccT	p.P1001P	TRERF1_ENST00000354325.2_Silent_p.P918P|TRERF1_ENST00000541110.1_Silent_p.P1021P|TRERF1_ENST00000340840.2_Silent_p.P918P|TRERF1_ENST00000372917.4_Silent_p.P918P	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	1001	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)			CCTGCAGGGGCGGCCCCTCCG	0.617																																																0													44	50	48					6																	42204006		2203	4300	6503	SO:0001819	synonymous_variant	55809			AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"breast cancer anti-estrogen resistance 2"	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.3003G>T	chr6.hg19:g.42204006C>A			Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Silent	SNP	ENST00000372922.4	hg19	CCDS4867.1																																																																																				0.617	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502		A	42204006	C	A	42204006	2	1	784	1	0	0	0	0	0	0	0	1	16480	755	27	4		4	TRERF1	6	42204006	Silent	SNP	C	TCGA-SX-A71S-01A-11D-A33Q-10	10081188	42204006	128911061	48	46463											
EYS	346007	hgsc.bcm.edu	37	6	65301559	65301559	+	Missense_Mutation	SNP	C	C	A			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr6:65301559C>A	ENST00000370621.3	-	26	4727	c.4201G>T	c.(4201-4203)Gat>Tat	p.D1401Y	EYS_ENST00000370616.2_Missense_Mutation_p.D1401Y|EYS_ENST00000503581.1_Missense_Mutation_p.D1401Y			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	1401					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						AAAATAAAATCTGACATTAAG	0.398																																																0													71	67	68					6																	65301559		692	1591	2283	SO:0001583	missense	346007				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.4201G>T	chr6.hg19:g.65301559C>A	ENSP00000359655:p.Asp1401Tyr		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	hg19		.	.	.	.	.	.	.	.	.	.	C	12.58	1.980085	0.34942	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	D;D;D	0.85258	-1.96;-1.94;-1.94	5.74	2.61	0.31194	.	.	.	.	.	T	0.70631	0.3246	N	0.08118	0	0.80722	D	1	D;D	0.65815	0.995;0.976	P;P	0.61201	0.885;0.556	T	0.73375	-0.4002	9	0.66056	D	0.02	.	5.5222	0.16939	0.0:0.6394:0.1555:0.2051	.	1401;1401	Q5T1H1-1;Q5T1H1	.;EYS_HUMAN	Y	1401	ENSP00000424243:D1401Y;ENSP00000359655:D1401Y;ENSP00000359650:D1401Y	ENSP00000359650:D1401Y	D	-	1	0	EYS	65358280	0.961000	0.32948	0.110000	0.21437	0.785000	0.44390	-0.091000	0.11146	0.206000	0.20587	0.591000	0.81541	GAT		0.398	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		A	65301559	C	A	65301559	3	1	784	1	0	0	0	0	1	0	0	0	5334	913	32	4	5150	4	EYS	6	65301559	Missense_Mutation	SNP	C	TCGA-SX-A71S-01A-11D-A33Q-10	23097553	65301559	105813508	49	46464											
KPNA5	3841	hgsc.bcm.edu	37	6	117043373	117043373	+	Missense_Mutation	SNP	T	T	G			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr6:117043373T>G	ENST00000368564.1	+	9	989	c.841T>G	c.(841-843)Tat>Gat	p.Y281D	KPNA5_ENST00000356348.1_Missense_Mutation_p.Y281D			O15131	IMA6_HUMAN	karyopherin alpha 5 (importin alpha 6)	278					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)		GGCCCTTTCTTATCTCTCCGA	0.413																																																0													151	132	138					6																	117043373		2203	4300	6503	SO:0001583	missense	3841			AF005361	CCDS5111.1	6q22.2	2013-02-14			ENSG00000196911	ENSG00000196911		"Importins", "Armadillo repeat containing"	6398	protein-coding gene	gene with protein product		604545				9395085	Standard	NM_002269		Approved	SRP6, IPOA6	uc003pxh.3	O15131	OTTHUMG00000015448	ENST00000368564.1:c.841T>G	chr6.hg19:g.117043373T>G	ENSP00000357552:p.Tyr281Asp		B2RAI5|Q86X23	Missense_Mutation	SNP	ENST00000368564.1	hg19	CCDS5111.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.855264	0.91355	.	.	ENSG00000196911	ENST00000368564;ENST00000356348	T;T	0.70282	-0.47;-0.47	5.81	5.81	0.92471	Armadillo-like helical (1);Armadillo-type fold (1);	0.077905	0.52532	D	0.000062	D	0.85999	0.5828	M	0.92970	3.365	0.54753	D	0.999981	D	0.89917	1.0	D	0.91635	0.999	D	0.89578	0.3818	10	0.87932	D	0	.	16.1671	0.81777	0.0:0.0:0.0:1.0	.	278	O15131	IMA5_HUMAN	D	281	ENSP00000357552:Y281D;ENSP00000348704:Y281D	ENSP00000348704:Y281D	Y	+	1	0	KPNA5	117150066	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.414000	0.80117	2.224000	0.72417	0.528000	0.53228	TAT		0.413	KPNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041967.1	NM_002269		G	117043373	T	G	117043373	3	3	784	1	0	0	0	0	1	0	0	0	8435	1754	61	5	875	5	KPNA5	6	117043373	Missense_Mutation	SNP	T	TCGA-SX-A71S-01A-11D-A33Q-10	51741814	117043373	54071694	50	46465											
GPRC6A	222545	hgsc.bcm.edu	37	6	117127768	117127768	+	Missense_Mutation	SNP	A	A	T			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr6:117127768A>T	ENST00000310357.3	-	3	1121	c.1100T>A	c.(1099-1101)gTc>gAc	p.V367D	GPRC6A_ENST00000368549.3_Missense_Mutation_p.V367D|GPRC6A_ENST00000530250.1_Intron	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	367					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)		AGTGTCCTTGACATATGCGCA	0.403																																																0													103	93	96					6																	117127768		2203	4299	6502	SO:0001583	missense	222545			AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"GPCR / Class C : Calcium-sensing receptors"	18510	protein-coding gene	gene with protein product			"G protein-coupled receptor, family C, group 6, member A"				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.1100T>A	chr6.hg19:g.117127768A>T	ENSP00000309493:p.Val367Asp		Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Missense_Mutation	SNP	ENST00000310357.3	hg19	CCDS5112.1	.	.	.	.	.	.	.	.	.	.	A	10.68	1.417587	0.25552	.	.	ENSG00000173612	ENST00000310357;ENST00000368549	D;D	0.85556	-2.0;-2.0	5.18	0.0122	0.14090	Extracellular ligand-binding receptor (1);	0.459032	0.18165	N	0.149641	T	0.60444	0.2269	N	0.25647	0.755	0.09310	N	1	P;P	0.44946	0.846;0.794	P;P	0.46629	0.466;0.522	T	0.62969	-0.6741	10	0.12430	T	0.62	.	9.2807	0.37727	0.7229:0.0:0.2771:0.0	.	367;367	Q5T6X5-3;Q5T6X5	.;GPC6A_HUMAN	D	367	ENSP00000309493:V367D;ENSP00000357537:V367D	ENSP00000309493:V367D	V	-	2	0	GPRC6A	117234461	0.000000	0.05858	0.058000	0.19502	0.605000	0.37080	0.342000	0.19926	-0.057000	0.13199	0.528000	0.53228	GTC		0.403	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2			T	117127768	A	T	117127768	3	4	784	1	0	0	0	0	1	0	0	0	6730	275	10	5	1696	5	GPRC6A	6	117127768	Missense_Mutation	SNP	A	TCGA-SX-A71S-01A-11D-A33Q-10	84395	117127768	53987299	51	46466											
GPR126	57211	hgsc.bcm.edu	37	6	142691326	142691326	+	Missense_Mutation	SNP	T	T	A			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr6:142691326T>A	ENST00000230173.6	+	4	941	c.465T>A	c.(463-465)aaT>aaA	p.N155K	GPR126_ENST00000545477.1_3'UTR|GPR126_ENST00000367608.2_Missense_Mutation_p.N155K|GPR126_ENST00000367609.3_Missense_Mutation_p.N155K|GPR126_ENST00000296932.8_Missense_Mutation_p.N155K	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	155	Pentaxin.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		CCTTAAGGAATCAAAAGGTCA	0.408																																																0													108	96	100					6																	142691326		1894	4119	6013	SO:0001583	missense	57211			AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"-", "GPCR / Class B : Orphans"	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.465T>A	chr6.hg19:g.142691326T>A	ENSP00000230173:p.Asn155Lys		Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Missense_Mutation	SNP	ENST00000230173.6	hg19	CCDS47490.1	.	.	.	.	.	.	.	.	.	.	T	19.73	3.882482	0.72294	.	.	ENSG00000112414	ENST00000230173;ENST00000367608;ENST00000296932;ENST00000367609;ENST00000541199	T;T;T;T;T	0.60040	0.22;0.22;0.22;0.22;1.96	5.66	4.49	0.54785	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.080775	0.52532	D	0.000061	T	0.65207	0.2669	M	0.71581	2.175	0.43372	D	0.995461	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.992	D;D;D;D;P	0.91635	0.999;0.999;0.999;0.998;0.856	T	0.70249	-0.4924	10	0.72032	D	0.01	.	10.8928	0.47004	0.0:0.0763:0.0:0.9237	.	155;155;155;155;154	Q86SQ4-4;Q86SQ4-3;Q86SQ4-2;Q86SQ4;F5H2L1	.;.;.;GP126_HUMAN;.	K	155;155;155;155;154	ENSP00000230173:N155K;ENSP00000356580:N155K;ENSP00000296932:N155K;ENSP00000356581:N155K;ENSP00000446287:N154K	ENSP00000230173:N155K	N	+	3	2	GPR126	142733019	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.705000	0.47127	0.971000	0.38288	0.528000	0.53228	AAT		0.408	GPR126-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042487.2			A	142691326	T	A	142691326	3	1	784	1	0	0	0	0	1	0	0	0	6642	1432	50	5	479	5	GPR126	6	142691326	Missense_Mutation	SNP	T	TCGA-SX-A71S-01A-11D-A33Q-10	25563558	142691326	28423741	52	46467											
WBSCR28	135886	hgsc.bcm.edu	37	7	73280192	73280192	+	Missense_Mutation	SNP	C	C	T			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr7:73280192C>T	ENST00000320531.2	+	3	823	c.787C>T	c.(787-789)Ccc>Tcc	p.P263S		NM_182504.3	NP_872310.2	Q6UE05	WBS28_HUMAN	Williams-Beuren syndrome chromosome region 28	263						integral component of membrane (GO:0016021)				breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				GCAAGAAACTCCCAGAGAATA	0.542																																																0													84	93	90					7																	73280192		1999	4170	6169	SO:0001583	missense	135886			BC030643	CCDS43597.1	7q11.23	2006-07-04			ENSG00000175877	ENSG00000175877			23018	protein-coding gene	gene with protein product		612547				8812460	Standard	NM_182504		Approved	MGC26719	uc003tzk.2	Q6UE05	OTTHUMG00000157243	ENST00000320531.2:c.787C>T	chr7.hg19:g.73280192C>T	ENSP00000316775:p.Pro263Ser		Q6UE04|Q8NHP4	Missense_Mutation	SNP	ENST00000320531.2	hg19	CCDS43597.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.824780	0.32237	.	.	ENSG00000175877	ENST00000320531	T	0.34072	1.38	3.55	3.55	0.40652	.	0.000000	0.40064	N	0.001182	T	0.45013	0.1321	L	0.34521	1.04	0.22975	N	0.998486	D	0.76494	0.999	D	0.71656	0.974	T	0.17018	-1.0383	10	0.87932	D	0	-3.4254	11.0008	0.47604	0.0:1.0:0.0:0.0	.	263	Q6UE05	WBS28_HUMAN	S	263	ENSP00000316775:P263S	ENSP00000316775:P263S	P	+	1	0	WBSCR28	72918128	0.004000	0.15560	0.662000	0.29724	0.009000	0.06853	0.329000	0.19698	2.302000	0.77476	0.644000	0.83932	CCC		0.542	WBSCR28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348130.1	NM_182504		T	73280192	C	T	73280192	3	4	784	1	0	0	0	0	1	0	0	0	17272	855	30	2	797	2	WBSCR28	7	73280192	Missense_Mutation	SNP	C	TCGA-SX-A71S-01A-11D-A33Q-10		73280192	85858471	53	46468											
PCLO	27445	hgsc.bcm.edu	37	7	82582455	82582455	+	Missense_Mutation	SNP	G	G	A			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr7:82582455G>A	ENST00000333891.9	-	5	8151	c.7814C>T	c.(7813-7815)cCc>cTc	p.P2605L	PCLO_ENST00000437081.1_5'Flank|PCLO_ENST00000423517.2_Missense_Mutation_p.P2605L	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						TGATCCCAAGGGCCAACTGGT	0.428																																																0													144	136	138					7																	82582455		1852	4102	5954	SO:0001583	missense	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.7814C>T	chr7.hg19:g.82582455G>A	ENSP00000334319:p.Pro2605Leu			Missense_Mutation	SNP	ENST00000333891.9	hg19	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	6.685	0.495051	0.12762	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.17528	2.27;2.28	5.04	4.16	0.48862	.	.	.	.	.	T	0.19485	0.0468	L	0.54323	1.7	0.80722	D	1	B;B	0.18461	0.028;0.028	B;B	0.19946	0.027;0.027	T	0.03000	-1.1084	9	0.87932	D	0	.	12.8617	0.57918	0.0805:0.0:0.9195:0.0	.	2605;2605	Q9Y6V0-5;Q9Y6V0-6	.;.	L	2536;2605;2605	ENSP00000334319:P2605L;ENSP00000388393:P2605L	ENSP00000334319:P2605L	P	-	2	0	PCLO	82420391	1.000000	0.71417	0.968000	0.41197	0.748000	0.42578	3.224000	0.51238	1.116000	0.41820	0.591000	0.81541	CCC		0.428	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		A	82582455	G	A	82582455	3	1	784	1	0	0	0	0	1	0	0	0	11585	1232	43	2	7715	2	PCLO	7	82582455	Missense_Mutation	SNP	G	TCGA-SX-A71S-01A-11D-A33Q-10	9302263	82582455	76556208	54	46469											
MET	4233	hgsc.bcm.edu	37	7	116423414	116423414	+	Missense_Mutation	SNP	A	A	G	rs121913246		TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr7:116423414A>G	ENST00000318493.6	+	19	3930	c.3743A>G	c.(3742-3744)tAt>tGt	p.Y1248C	MET_ENST00000539704.1_Missense_Mutation_p.Y100C|MET_ENST00000397752.3_Missense_Mutation_p.Y1230C			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)	p.Y1248C(8)		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)			AGAGACATGTATGATAAAGAA	0.393			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																														Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	8	Substitution - Missense(8)	upper_aerodigestive_tract(7)|kidney(1)	GRCh37	CM970947	MET	M	rs121913246						105	99	101					7																	116423414		1843	4094	5937	SO:0001583	missense	4233	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	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.3743A>G	chr7.hg19:g.116423414A>G	ENSP00000317272:p.Tyr1248Cys		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	hg19	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	A	17.26	3.345049	0.61073	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000539704	D;D;D	0.83250	-1.7;-1.7;-1.7	5.46	5.46	0.80206	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	0.91270	0.7248	M	0.82132	2.575	0.58432	A	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92475	0.5988	9	0.87932	D	0	.	15.824	0.78683	1.0:0.0:0.0:0.0	.	1248;1230	P08581-2;P08581	.;MET_HUMAN	C	1230;1248;100	ENSP00000380860:Y1230C;ENSP00000317272:Y1248C;ENSP00000445020:Y100C	ENSP00000317272:Y1248C	Y	+	2	0	MET	116210650	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.960000	0.70348	2.197000	0.70478	0.460000	0.39030	TAT		0.393	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			G	116423414	A	G	116423414	3	3	784	1	0	0	0	0	1	0	0	0	9487	449	16	3	3813	3	MET	7	116423414	Missense_Mutation	SNP	A	TCGA-SX-A71S-01A-11D-A33Q-10	33840959	116423414	42715249	55	46470											
CCDC136	64753	hgsc.bcm.edu	37	7	128441373	128441373	+	Silent	SNP	C	C	T			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr7:128441373C>T	ENST00000297788.4	+	4	847	c.480C>T	c.(478-480)tcC>tcT	p.S160S	CCDC136_ENST00000464832.1_Silent_p.S210S|CCDC136_ENST00000378685.4_Silent_p.S210S|CCDC136_ENST00000487361.1_Silent_p.S160S	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	160	Glu-rich.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						CAGAGGATTCCGCAACTGAAC	0.483																																																0													63	66	65					7																	128441373		2037	4186	6223	SO:0001819	synonymous_variant	64753				CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.480C>T	chr7.hg19:g.128441373C>T			A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Silent	SNP	ENST00000297788.4	hg19	CCDS47704.1	.	.	.	.	.	.	.	.	.	.	T	2.942	-0.218780	0.06101	.	.	ENSG00000128596	ENST00000494552	.	.	.	5.65	-11.3	0.00108	.	.	.	.	.	T	0.39279	0.1072	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46527	-0.9185	4	.	.	.	-8.6599	4.439	0.11564	0.2265:0.4454:0.1525:0.1756	.	.	.	.	L	37	.	.	P	+	2	0	CCDC136	128228609	0.000000	0.05858	0.011000	0.14972	0.310000	0.27922	-4.697000	0.00197	-2.356000	0.00613	-1.213000	0.01624	CCG		0.483	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350641.1	NM_022742		T	128441373	C	T	128441373	2	4	784	1	0	0	0	0	0	0	0	1	2772	639	23	1		1	CCDC136	7	128441373	Silent	SNP	C	TCGA-SX-A71S-01A-11D-A33Q-10	12017959	128441373	30697290	56	46471											
CPA1	1357	hgsc.bcm.edu	37	7	130022030	130022030	+	Missense_Mutation	SNP	C	C	T			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr7:130022030C>T	ENST00000011292.3	+	4	613	c.463C>T	c.(463-465)Cgt>Tgt	p.R155C	CPA1_ENST00000484324.1_Missense_Mutation_p.R67C	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	155					proteolysis (GO:0006508)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					CTATGAAGGGCGTCCCATTTA	0.557																																																0													130	101	111					7																	130022030		2203	4300	6503	SO:0001583	missense	1357				CCDS5820.1	7q32	2012-02-10			ENSG00000091704	ENSG00000091704	3.4.17.1		2296	protein-coding gene	gene with protein product	"pancreatic carboxypeptidase A"	114850		CPA			Standard	NM_001868		Approved		uc003vpx.3	P15085	OTTHUMG00000157826	ENST00000011292.3:c.463C>T	chr7.hg19:g.130022030C>T	ENSP00000011292:p.Arg155Cys		A4D1M1|Q53XU0|Q9BS67|Q9UCF2	Missense_Mutation	SNP	ENST00000011292.3	hg19	CCDS5820.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.048277	0.55110	.	.	ENSG00000091704	ENST00000481342;ENST00000011292;ENST00000476062;ENST00000484324	T;T;T;T	0.28895	1.59;1.59;1.59;1.59	5.46	5.46	0.80206	Peptidase M14, carboxypeptidase A (3);	0.046442	0.85682	D	0.000000	T	0.75265	0.3826	H	0.99619	4.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	D	0.86816	0.2001	10	0.87932	D	0	.	16.4592	0.84031	0.0:1.0:0.0:0.0	.	67;155	B4DDW9;P15085	.;CBPA1_HUMAN	C	67;155;67;67	ENSP00000420218:R67C;ENSP00000011292:R155C;ENSP00000419408:R67C;ENSP00000419497:R67C	ENSP00000011292:R155C	R	+	1	0	CPA1	129809266	0.992000	0.36948	0.143000	0.22291	0.163000	0.22366	3.032000	0.49736	2.576000	0.86940	0.561000	0.74099	CGT		0.557	CPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349736.2	NM_001868		T	130022030	C	T	130022030	3	4	784	1	0	0	0	0	1	0	0	0	3791	768	27	1	477	1	CPA1	7	130022030	Missense_Mutation	SNP	C	TCGA-SX-A71S-01A-11D-A33Q-10	1580657	130022030	29116633	57	46472											
HEY1	23462	hgsc.bcm.edu	37	8	80677948	80677948	+	Missense_Mutation	SNP	G	G	C			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr8:80677948G>C	ENST00000354724.3	-	5	589	c.390C>G	c.(388-390)tgC>tgG	p.C130W	RP11-27N21.3_ENST00000607172.1_lincRNA|HEY1_ENST00000523976.1_Missense_Mutation_p.C40W|HEY1_ENST00000337919.5_Missense_Mutation_p.C134W|HEY1_ENST00000435063.2_5'UTR	NM_012258.3	NP_036390.3	Q9Y5J3	HEY1_HUMAN	hes-related family bHLH transcription factor with YRPW motif 1	130	Orange. {ECO:0000255|PROSITE- ProRule:PRU00380}.				angiogenesis (GO:0001525)|anterior/posterior axis specification (GO:0009948)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular valve formation (GO:0003190)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac septum morphogenesis (GO:0060411)|cardiac ventricle morphogenesis (GO:0003208)|cellular response to glucocorticoid stimulus (GO:0071385)|dorsal aorta morphogenesis (GO:0035912)|endocardial cushion morphogenesis (GO:0003203)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of Notch signaling pathway (GO:0045746)|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 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)|osteoblast development (GO:0002076)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve morphogenesis (GO:0003184)|regulation of vasculogenesis (GO:2001212)|transcription from RNA polymerase II promoter (GO:0006366)|umbilical cord morphogenesis (GO:0036304)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)		HEY1/NCOA2(10)	cervix(1)|kidney(2)|large_intestine(5)|lung(14)	22	all_lung(9;5.1e-05)		Epithelial(68;0.076)|all cancers(69;0.179)			CTTCTGCCAGGCATTCCCGAA	0.498			T	NCOA2	mesenchymal chondrosarcoma						OREG0018837	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											Dom	yes		8	8q21	23462	hairy/enhancer-of-split related with YRPW motif 1		M	0													61	64	63					8																	80677948		2203	4300	6503	SO:0001583	missense	23462			AF151522	CCDS6225.1, CCDS43749.1, CCDS64915.1	8q21	2013-10-17	2013-10-17					"Basic helix-loop-helix proteins"	4880	protein-coding gene	gene with protein product		602953	"hairy/enhancer-of-split related with YRPW motif 1"			10415358, 10403790	Standard	NM_001040708		Approved	HESR-1, CHF2, HESR1, HRT-1, CHF-2, HERP2, BHLHb31	uc003ybl.3	Q9Y5J3		ENST00000354724.3:c.390C>G	chr8.hg19:g.80677948G>C	ENSP00000346761:p.Cys130Trp	1200	B2R883|Q5TZS3|Q8NAM2|Q9NYP4	Missense_Mutation	SNP	ENST00000354724.3	hg19	CCDS6225.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.104243	0.56291	.	.	ENSG00000164683	ENST00000354724;ENST00000542205;ENST00000337919;ENST00000523976;ENST00000518733	D;D;D;D	0.89050	-2.46;-2.46;-2.46;-2.46	4.98	4.98	0.66077	Orange subgroup (1);Orange (2);	0.000000	0.85682	D	0.000000	D	0.96234	0.8772	H	0.94306	3.52	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97377	0.9980	10	0.87932	D	0	-1.6691	18.6141	0.91296	0.0:0.0:1.0:0.0	.	130;134	Q9Y5J3;Q9Y5J3-2	HEY1_HUMAN;.	W	130;134;134;40;92	ENSP00000346761:C130W;ENSP00000338272:C134W;ENSP00000429792:C40W;ENSP00000429705:C92W	ENSP00000338272:C134W	C	-	3	2	HEY1	80840503	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.614000	0.46359	2.456000	0.83038	0.561000	0.74099	TGC		0.498	HEY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000379516.1	NM_012258		C	80677948	G	C	80677948	3	2	784	1	0	0	0	0	1	0	0	0	7080	1195	42	4	528	4	HEY1	8	80677948	Missense_Mutation	SNP	G	TCGA-SX-A71S-01A-11D-A33Q-10		80677948	65686074	58	46473											
FAM135B	51059	hgsc.bcm.edu	37	8	139165353	139165353	+	Silent	SNP	A	A	G			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr8:139165353A>G	ENST00000395297.1	-	13	1535	c.1365T>C	c.(1363-1365)tcT>tcC	p.S455S		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	455										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CTTCCCTAAAAGATAAATTGC	0.378										HNSCC(54;0.14)																																						0													73	70	71					8																	139165353		1881	4106	5987	SO:0001819	synonymous_variant	51059			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.1365T>C	chr8.hg19:g.139165353A>G			B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	ENST00000395297.1	hg19	CCDS6375.2																																																																																				0.378	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		G	139165353	A	G	139165353	2	3	784	1	0	0	0	0	0	0	0	1	5451	59	3	3		3	FAM135B	8	139165353	Silent	SNP	A	TCGA-SX-A71S-01A-11D-A33Q-10	58487405	139165353	7198669	59	46474											
ZNF16	7564	hgsc.bcm.edu	37	8	146156157	146156157	+	Missense_Mutation	SNP	C	C	A			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr8:146156157C>A	ENST00000276816.4	-	4	2202	c.2016G>T	c.(2014-2016)ttG>ttT	p.L672F	ZNF16_ENST00000394909.2_Missense_Mutation_p.L672F	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	672					cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to sodium dodecyl sulfate (GO:0072707)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell cycle phase transition (GO:1901989)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of kinase activity (GO:0033674)|positive regulation of megakaryocyte differentiation (GO:0045654)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		GGTGTTTGATCAACTTTGATC	0.527																																																0													177	165	169					8																	146156157		2203	4300	6503	SO:0001583	missense	7564			X52340	CCDS6437.1	8q24	2013-01-08	2006-05-10		ENSG00000170631	ENSG00000170631		"Zinc fingers, C2H2-type"	12947	protein-coding gene	gene with protein product		601262	"zinc finger protein 16 (KOX 9)"				Standard	NM_006958		Approved	KOX9	uc003zeu.3	P17020	OTTHUMG00000165253	ENST00000276816.4:c.2016G>T	chr8.hg19:g.146156157C>A	ENSP00000276816:p.Leu672Phe		B3KXM4|D3DWP2|Q45SH7|Q96FG0|Q9NRA4	Missense_Mutation	SNP	ENST00000276816.4	hg19	CCDS6437.1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.768564	0.31320	.	.	ENSG00000170631	ENST00000276816;ENST00000394909	T;T	0.68624	-0.34;-0.34	4.03	3.09	0.35607	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.76485	0.3994	M	0.69185	2.1	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.62374	-0.6868	9	0.62326	D	0.03	.	6.346	0.21349	0.0:0.5505:0.3465:0.1029	.	672	P17020	ZNF16_HUMAN	F	672	ENSP00000276816:L672F;ENSP00000378369:L672F	ENSP00000276816:L672F	L	-	3	2	ZNF16	146126961	0.000000	0.05858	0.711000	0.30485	0.594000	0.36715	-1.750000	0.01822	2.081000	0.62600	0.462000	0.41574	TTG		0.527	ZNF16-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000382978.1	NM_006958		A	146156157	C	A	146156157	3	1	784	1	0	0	0	0	1	0	0	0	17743	825	29	4	36	4	ZNF16	8	146156157	Missense_Mutation	SNP	C	TCGA-SX-A71S-01A-11D-A33Q-10	6990804	146156157	207865	60	46475											
HAUS6	54801	hgsc.bcm.edu	37	9	19080609	19080609	+	Nonsense_Mutation	SNP	A	A	T			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr9:19080609A>T	ENST00000380502.3	-	9	1399	c.932T>A	c.(931-933)tTa>tAa	p.L311*	HAUS6_ENST00000380496.1_Nonsense_Mutation_p.L175*	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	311					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						GACTTCATTTAATAACTGAAT	0.368																																																0													56	53	54					9																	19080609		2201	4297	6498	SO:0001587	stop_gained	54801			AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"HAUS augmin-like complex subunits"	25948	protein-coding gene	gene with protein product		613433	"family with sequence similarity 29, member A"	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622	ENST00000380502.3:c.932T>A	chr9.hg19:g.19080609A>T	ENSP00000369871:p.Leu311*		B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Nonsense_Mutation	SNP	ENST00000380502.3	hg19	CCDS6489.1	.	.	.	.	.	.	.	.	.	.	A	36	5.706308	0.96821	.	.	ENSG00000147874	ENST00000380502;ENST00000380496	.	.	.	5.49	5.49	0.81192	.	0.142736	0.46758	D	0.000268	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.7991	13.5326	0.61631	1.0:0.0:0.0:0.0	.	.	.	.	X	311;175	.	ENSP00000369865:L175X	L	-	2	0	HAUS6	19070609	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.947000	0.70242	2.089000	0.63090	0.482000	0.46254	TTA		0.368	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051825.1	NM_017645		T	19080609	A	T	19080609	4	4	784	1	0	0	0	0	0	1	0	0	6972	372	13	5	1971	5	HAUS6	9	19080609	Nonsense_Mutation	SNP	A	TCGA-SX-A71S-01A-11D-A33Q-10		19080609	122132822	61	46476											
GBA2	57704	hgsc.bcm.edu	37	9	35741770	35741770	+	Missense_Mutation	SNP	G	G	A			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr9:35741770G>A	ENST00000378103.3	-	4	1208	c.685C>T	c.(685-687)Cat>Tat	p.H229Y	GBA2_ENST00000378094.4_Missense_Mutation_p.H229Y|GBA2_ENST00000467252.1_5'UTR|GBA2_ENST00000545786.1_Missense_Mutation_p.H235Y	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	229					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)			TAGAGGGCATGGTAGAAAGCA	0.587																																																0													130	123	125					9																	35741770		2203	4300	6503	SO:0001583	missense	57704			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.685C>T	chr9.hg19:g.35741770G>A	ENSP00000367343:p.His229Tyr		D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Missense_Mutation	SNP	ENST00000378103.3	hg19	CCDS6589.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.017890	0.93404	.	.	ENSG00000070610	ENST00000378103;ENST00000378094;ENST00000545786	.	.	.	5.37	5.37	0.77165	Beta-glucosidase, GBA2 type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.77191	0.4094	M	0.71296	2.17	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.975;0.998	T	0.70757	-0.4785	9	0.11485	T	0.65	-22.5324	19.4817	0.95013	0.0:0.0:1.0:0.0	.	235;229;229	F5H7P6;Q9HCG7-2;Q9HCG7	.;.;GBA2_HUMAN	Y	229;229;235	.	ENSP00000367334:H229Y	H	-	1	0	GBA2	35731770	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.686000	0.98664	2.673000	0.90976	0.557000	0.71058	CAT		0.587	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944		A	35741770	G	A	35741770	3	1	784	1	0	0	0	0	1	0	0	0	6269	1348	47	2	2154	2	GBA2	9	35741770	Missense_Mutation	SNP	G	TCGA-SX-A71S-01A-11D-A33Q-10	16661161	35741770	105471661	62	46477											
CNTNAP3	79937	hgsc.bcm.edu	37	9	39144299	39144299	+	Missense_Mutation	SNP	G	G	A			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr9:39144299G>A	ENST00000297668.6	-	11	1767	c.1694C>T	c.(1693-1695)tCg>tTg	p.S565L	CNTNAP3_ENST00000377656.2_Missense_Mutation_p.S565L|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.S477L|CNTNAP3_ENST00000323947.7_Intron|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.S565L	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	565	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)		GGTGTCCCACGACTGGGAACA	0.502																																																0													9	6	7					9																	39144299		2038	3953	5991	SO:0001583	missense	79937			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.1694C>T	chr9.hg19:g.39144299G>A	ENSP00000297668:p.Ser565Leu		B1AMA0|Q9C0E9	Missense_Mutation	SNP	ENST00000297668.6	hg19	CCDS6616.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.186331	0.78789	.	.	ENSG00000106714	ENST00000297668;ENST00000377656;ENST00000358144;ENST00000377659	T;T;T;T	0.17854	2.25;2.25;2.25;2.25	3.04	3.04	0.35103	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.23492	0.0568	L	0.47078	1.49	0.80722	D	1	D;P;P	0.62365	0.991;0.807;0.801	P;B;B	0.50590	0.645;0.266;0.14	T	0.05733	-1.0867	9	0.66056	D	0.02	.	13.1565	0.59520	0.0:0.0:1.0:0.0	.	565;565;565	Q9BZ76-2;A6NC89;Q9BZ76	.;.;CNTP3_HUMAN	L	565;565;477;565	ENSP00000297668:S565L;ENSP00000366884:S565L;ENSP00000350863:S477L;ENSP00000366887:S565L	ENSP00000297668:S565L	S	-	2	0	CNTNAP3	39134299	1.000000	0.71417	0.997000	0.53966	0.949000	0.60115	5.316000	0.65815	1.691000	0.51100	0.306000	0.20318	TCG		0.502	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	NM_033655		A	39144299	G	A	39144299	3	1	784	1	0	0	0	0	1	0	0	0	3650	1059	37	1	2228	1	CNTNAP3	9	39144299	Missense_Mutation	SNP	G	TCGA-SX-A71S-01A-11D-A33Q-10	3402529	39144299	102069132	63	46478											
C9orf47	286223	hgsc.bcm.edu	37	9	91606554	91606554	+	Missense_Mutation	SNP	A	A	C			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr9:91606554A>C	ENST00000334490.5	+	2	484	c.416A>C	c.(415-417)cAc>cCc	p.H139P	S1PR3_ENST00000358157.2_5'UTR|C9orf47_ENST00000375850.3_Missense_Mutation_p.H120P|C9orf47_ENST00000375851.2_Missense_Mutation_p.H120P			Q6ZRZ4	CI047_HUMAN	chromosome 9 open reading frame 47	139						extracellular region (GO:0005576)				endometrium(1)|large_intestine(1)|liver(1)|lung(1)	4						GCGCCCCGGCACCGCCGCGCG	0.781																																																0													2	2	2					9																	91606554		1448	2974	4422	SO:0001583	missense	286223			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.416A>C	chr9.hg19:g.91606554A>C	ENSP00000335616:p.His139Pro		B7ZMC7|Q5SQD7|Q7Z568|Q8N1V4	Missense_Mutation	SNP	ENST00000334490.5	hg19	CCDS35062.1	.	.	.	.	.	.	.	.	.	.	A	10.64	1.407244	0.25378	.	.	ENSG00000186354	ENST00000375851;ENST00000375850;ENST00000334490	.	.	.	1.58	-1.41	0.08941	.	.	.	.	.	T	0.11707	0.0285	N	0.08118	0	0.09310	N	0.999995	D;D	0.58268	0.982;0.982	P;P	0.44422	0.449;0.449	T	0.13229	-1.0517	8	0.87932	D	0	.	2.3629	0.04312	0.3788:0.3701:0.0:0.2511	.	139;120	Q6ZRZ4;Q6ZRZ4-2	CI047_HUMAN;.	P	120;120;139	.	ENSP00000335616:H139P	H	+	2	0	C9orf47	90796374	0.002000	0.14202	0.000000	0.03702	0.044000	0.14063	-0.122000	0.10627	-0.403000	0.07622	0.454000	0.30748	CAC		0.781	C9orf47-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355972.1	NM_182599		C	91606554	A	C	91606554	3	2	784	1	0	0	0	0	1	0	0	0	2487	159	6	5	422	5	C9orf47	9	91606554	Missense_Mutation	SNP	A	TCGA-SX-A71S-01A-11D-A33Q-10	52462255	91606554	49606877	64	46479											
ALG2	85365	hgsc.bcm.edu	37	9	101980479	101980480	+	Frame_Shift_Ins	INS	-	-	A			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr9:101980479_101980480insA	ENST00000476832.1	-	2	1048_1049	c.987_988insT	c.(985-990)attgtcfs	p.V330fs	ALG2_ENST00000319033.6_Frame_Shift_Ins_p.V237fs	NM_033087.3	NP_149078.1	O75340	PDCD6_HUMAN	ALG2, alpha-1,3/1,6-mannosyltransferase	0					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|cellular response to heat (GO:0034605)|intracellular protein transport (GO:0006886)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|proteolysis (GO:0006508)|response to calcium ion (GO:0051592)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|calcium-dependent protein binding (GO:0048306)|protein dimerization activity (GO:0046983)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2)	22		Acute lymphoblastic leukemia(62;0.0559)				TCCAGAGGGACAATGCCAAAGT	0.495																																																0																																										SO:0001589	frameshift_variant	85365			AK027417	CCDS6739.1	9q31.1	2013-02-22	2013-02-22		ENSG00000119523	ENSG00000119523	2.4.1.132, 2.4.1.257	"Glycosyltransferase group 1 domain containing"	23159	protein-coding gene	gene with protein product		607905	"asparagine-linked glycosylation 2 homolog (yeast, alpha-1,3-mannosyltransferase)", "asparagine-linked glycosylation 2, alpha-1,3-mannosyltransferase homolog (S. cerevisiae)"			12684507	Standard	NR_024532		Approved	CDGIi, FLJ14511, hALPG2, NET38	uc004azf.3	Q9H553	OTTHUMG00000020355	ENST00000476832.1:c.988dupT	chr9.hg19:g.101980481_101980481dupA	ENSP00000417764:p.Val330fs		B2RD16|E7ESR3|Q2YDC2|Q5TZS0	Frame_Shift_Ins	INS	ENST00000476832.1	hg19	CCDS6739.1																																																																																				0.495	ALG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215080.1	NM_033087		A	101980480	-	A	101980479	7	5	784	1	0	1	1	0	0	0	0	0	519	478	17	0	266	0	ALG2	9	101980479	Frame_Shift_Ins	INS	-	TCGA-SX-A71S-01A-11D-A33Q-10	10373925	101980479	39232952	65	46480											
RNF20	56254	hgsc.bcm.edu	37	9	104302568	104302568	+	Silent	SNP	A	A	G	rs150763272		TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr9:104302568A>G	ENST00000389120.3	+	3	303	c.213A>G	c.(211-213)gaA>gaG	p.E71E		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	71					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)		TTGAAGATGAACTTCGTGAGC	0.453																																																0								A		4,4402	8.1+/-20.4	0,4,2199	134	119	124		213	-0.6	1	9	dbSNP_134	124	0,8600		0,0,4300	no	coding-synonymous	RNF20	NM_019592.5		0,4,6499	GG,GA,AA		0.0,0.0908,0.0308		71/976	104302568	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	56254			AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"RING-type (C3HC4) zinc fingers"	10062	protein-coding gene	gene with protein product	"BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"	607699	"ring finger protein 20"			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.213A>G	chr9.hg19:g.104302568A>G			A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Silent	SNP	ENST00000389120.3	hg19	CCDS35084.1																																																																																				0.453	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356402.1	NM_019592		G	104302568	A	G	104302568	2	3	784	1	0	0	0	0	0	0	0	1	13479	40	2	3		3	RNF20	9	104302568	Silent	SNP	A	TCGA-SX-A71S-01A-11D-A33Q-10	2322089	104302568	36910863	66	46481											
TSC1	7248	hgsc.bcm.edu	37	9	135787825	135787825	+	Missense_Mutation	SNP	G	G	T			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr9:135787825G>T	ENST00000298552.3	-	9	978	c.757C>A	c.(757-759)Cat>Aat	p.H253N	TSC1_ENST00000403810.1_Missense_Mutation_p.H253N|TSC1_ENST00000440111.2_Missense_Mutation_p.H253N|TSC1_ENST00000545250.1_Missense_Mutation_p.H202N	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	253					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		ACAACATCATGAGTTTCTAAT	0.418			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																													yes	Rec		Tuberous sclerosis 1	9	9q34	7248	tuberous sclerosis 1 gene		"E, O"	1	Unknown(1)	bone(1)											123	105	111					9																	135787825		2203	4300	6503	SO:0001583	missense	7248	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.757C>A	chr9.hg19:g.135787825G>T	ENSP00000298552:p.His253Asn		B7Z897|Q5VVN5	Missense_Mutation	SNP	ENST00000298552.3	hg19	CCDS6956.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.859483	0.91433	.	.	ENSG00000165699	ENST00000298552;ENST00000440111;ENST00000545250;ENST00000537172;ENST00000424271;ENST00000403810	D;D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44;-2.44	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.95046	0.8396	M	0.83603	2.65	0.80722	D	1	D;D;P;D;P;D	0.76494	0.999;0.989;0.852;0.981;0.956;0.976	D;D;P;P;D;D	0.87578	0.998;0.944;0.539;0.852;0.955;0.924	D	0.95026	0.8165	10	0.66056	D	0.02	-14.9842	18.9865	0.92773	0.0:0.0:1.0:0.0	.	132;202;253;253;253;253	B7Z604;B7Z897;Q86WV8;Q59IT9;Q32NF0;Q92574	.;.;.;.;.;TSC1_HUMAN	N	253;253;202;132;132;253	ENSP00000298552:H253N;ENSP00000394524:H253N;ENSP00000444017:H202N;ENSP00000438099:H132N;ENSP00000386093:H253N	ENSP00000298552:H253N	H	-	1	0	TSC1	134777646	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.724000	0.93272	0.561000	0.74099	CAT		0.418	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054799.1			T	135787825	G	T	135787825	3	4	784	1	0	0	0	0	1	0	0	0	16610	1290	45	4	2797	4	TSC1	9	135787825	Missense_Mutation	SNP	G	TCGA-SX-A71S-01A-11D-A33Q-10	31485257	135787825	5425606	67	46482											
PRPF18	8559	hgsc.bcm.edu	37	10	13658405	13658405	+	Missense_Mutation	SNP	A	A	G			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr10:13658405A>G	ENST00000378572.3	+	9	960	c.800A>G	c.(799-801)gAt>gGt	p.D267G		NM_003675.3	NP_003666.1	Q99633	PRP18_HUMAN	pre-mRNA processing factor 18	267					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						CAGGCAAATGATGCTTATCTT	0.413																																																0													143	134	137					10																	13658405		2203	4300	6503	SO:0001583	missense	8559			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.800A>G	chr10.hg19:g.13658405A>G	ENSP00000367835:p.Asp267Gly		Q5T9P9|Q9BUI9	Missense_Mutation	SNP	ENST00000378572.3	hg19	CCDS7100.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.309778	0.81247	.	.	ENSG00000165630	ENST00000378572;ENST00000298451	.	.	.	5.3	5.3	0.74995	Prp18 (3);	0.000000	0.85682	D	0.000000	D	0.84460	0.5477	M	0.91768	3.24	0.80722	D	1	D	0.63046	0.992	D	0.65987	0.94	D	0.88339	0.2973	9	0.87932	D	0	-32.6043	15.2507	0.73542	1.0:0.0:0.0:0.0	.	267	Q99633	PRP18_HUMAN	G	267;29	.	ENSP00000298451:D29G	D	+	2	0	PRPF18	13698411	1.000000	0.71417	1.000000	0.80357	0.670000	0.39368	9.320000	0.96346	2.006000	0.58801	0.528000	0.53228	GAT		0.413	PRPF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046879.1			G	13658405	A	G	13658405	3	3	784	1	0	0	0	0	1	0	0	0	12568	333	12	3	834	3	PRPF18	10	13658405	Missense_Mutation	SNP	A	TCGA-SX-A71S-01A-11D-A33Q-10		13658405	121876342	68	46483											
SVIL	6840	hgsc.bcm.edu	37	10	29769500	29769500	+	Silent	SNP	A	A	G			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr10:29769500A>G	ENST00000355867.4	-	29	6095	c.5343T>C	c.(5341-5343)taT>taC	p.Y1781Y	SVIL_ENST00000375398.2_Silent_p.Y1781Y|PTCHD3P1_ENST00000423223.1_RNA|SVIL_ENST00000535393.1_Silent_p.Y695Y|PTCHD3P1_ENST00000446807.1_RNA|SVIL_ENST00000460007.1_5'UTR|SVIL_ENST00000538146.1_Silent_p.Y573Y|SVIL_ENST00000375400.3_Silent_p.Y1355Y|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000414457.1_RNA	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1781					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)				ACTTGACCACATAGGCATCCC	0.567																																																0													104	95	98					10																	29769500		2203	4300	6503	SO:0001819	synonymous_variant	6840			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.5343T>C	chr10.hg19:g.29769500A>G			D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Silent	SNP	ENST00000355867.4	hg19	CCDS7164.1																																																																																				0.567	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			G	29769500	A	G	29769500	2	3	784	1	0	0	0	0	0	0	0	1	15426	224	8	3		3	SVIL	10	29769500	Silent	SNP	A	TCGA-SX-A71S-01A-11D-A33Q-10	16111095	29769500	105765247	69	46484											
ANKRD30A	91074	hgsc.bcm.edu	37	10	37508624	37508625	+	Frame_Shift_Ins	INS	-	-	A			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr10:37508624_37508625insA	ENST00000602533.1	+	34	3915_3916	c.3816_3817insA	c.(3817-3819)aaafs	p.K1273fs	ANKRD30A_ENST00000361713.1_Frame_Shift_Ins_p.K1273fs|ANKRD30A_ENST00000374660.1_Frame_Shift_Ins_p.K1392fs			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1329					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						AACTACAAAGCAAAAATATGTG	0.342																																																0																																										SO:0001589	frameshift_variant	91074			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.3821dupA	chr10.hg19:g.37508629_37508629dupA	ENSP00000473551:p.Lys1273fs		Q5W025	Frame_Shift_Ins	INS	ENST00000602533.1	hg19																																																																																					0.342	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		A	37508625	-	A	37508624	7	5	784	1	0	1	1	0	0	0	0	0	658	709	25	0	3950	0	ANKRD30A	10	37508624	Frame_Shift_Ins	INS	-	TCGA-SX-A71S-01A-11D-A33Q-10	7739124	37508624	98026123	70	46485											
SLC16A12	387700	hgsc.bcm.edu	37	10	91203518	91203518	+	Missense_Mutation	SNP	A	A	G			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr10:91203518A>G	ENST00000341233.4	-	4	599	c.209T>C	c.(208-210)cTc>cCc	p.L70P	SLC16A12_ENST00000371790.4_Missense_Mutation_p.L100P	NM_213606.3	NP_998771.3	Q6ZSM3	MOT12_HUMAN	solute carrier family 16, member 12	70						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						CTCACCACAGAGCATGGTCAC	0.393																																																0													107	93	98					10																	91203518		2203	4300	6503	SO:0001583	missense	387700				CCDS7404.1, CCDS7404.2	10q23.32	2013-07-18	2013-07-18		ENSG00000152779	ENSG00000152779		"Solute carriers"	23094	protein-coding gene	gene with protein product	"monocarboxylic acid transporter 12"	611910	"solute carrier family 16 (monocarboxylic acid transporters), member 12", "solute carrier family 16, member 12 (monocarboxylic acid transporter 12)"				Standard	NM_213606		Approved	MCT12	uc001kgm.3	Q6ZSM3	OTTHUMG00000018714	ENST00000341233.4:c.209T>C	chr10.hg19:g.91203518A>G	ENSP00000343022:p.Leu70Pro		Q5M9M9|Q5T7J2|Q6ZV76	Missense_Mutation	SNP	ENST00000341233.4	hg19		.	.	.	.	.	.	.	.	.	.	A	24.7	4.555001	0.86231	.	.	ENSG00000152779	ENST00000341233;ENST00000371790	T;T	0.60797	0.16;0.16	5.62	5.62	0.85841	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.118609	0.64402	D	0.000016	T	0.77572	0.4150	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.79215	-0.1895	10	0.41790	T	0.15	.	15.0059	0.71513	1.0:0.0:0.0:0.0	.	70	Q6ZSM3	MOT12_HUMAN	P	70;100	ENSP00000343022:L70P;ENSP00000360855:L100P	ENSP00000343022:L70P	L	-	2	0	SLC16A12	91193498	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.339000	0.96797	2.151000	0.67156	0.482000	0.46254	CTC		0.393	SLC16A12-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_213606		G	91203518	A	G	91203518	3	3	784	1	0	0	0	0	1	0	0	0	14411	304	11	3	1271	3	SLC16A12	10	91203518	Missense_Mutation	SNP	A	TCGA-SX-A71S-01A-11D-A33Q-10	53694894	91203518	44331229	71	46486											
MGEA5	10724	hgsc.bcm.edu	37	10	103577714	103577714	+	Silent	SNP	G	G	A			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr10:103577714G>A	ENST00000361464.3	-	1	461	c.66C>T	c.(64-66)gcC>gcT	p.A22A	KCNIP2-AS1_ENST00000412353.1_RNA|MGEA5_ENST00000370094.3_Silent_p.A22A|MGEA5_ENST00000419011.2_Silent_p.A22A|MGEA5_ENST00000439817.1_Silent_p.A22A|MGEA5_ENST00000357797.5_Silent_p.A22A	NM_012215.3	NP_036347.1	O60502	OGA_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	22					aging (GO:0007568)|dATP metabolic process (GO:0046060)|glycoprotein catabolic process (GO:0006516)|N-acetylglucosamine metabolic process (GO:0006044)|necrotic cell death (GO:0070265)|negative regulation of cardiac muscle adaptation (GO:0010616)|negative regulation of protein glycosylation (GO:0060051)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cell killing (GO:0031343)|positive regulation of DNA metabolic process (GO:0051054)|positive regulation of glucose import (GO:0046326)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of proteolysis (GO:0045862)|protein targeting to membrane (GO:0006612)|response to steroid hormone (GO:0048545)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|hyalurononglucosaminidase activity (GO:0004415)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		CCGCAGAGGCGGCAGGGTTGG	0.736																																																0													9	10	10					10																	103577714		2166	4258	6424	SO:0001819	synonymous_variant	10724			AF036144	CCDS7520.1, CCDS44471.1	10q24.1-q24.3	2008-08-01			ENSG00000198408	ENSG00000198408			7056	protein-coding gene	gene with protein product	"nuclear cytoplasmic O-GlcNAcase and acetyltransferase"	604039				9811929, 16356930	Standard	NM_012215		Approved	MEA5, NCOAT, OGA	uc001ktv.2	O60502	OTTHUMG00000018939	ENST00000361464.3:c.66C>T	chr10.hg19:g.103577714G>A			B7WPB9|D3DR79|E9PGF9|O75166|Q86WV0|Q8IV98|Q9BVA5|Q9HAR0	Silent	SNP	ENST00000361464.3	hg19	CCDS7520.1																																																																																				0.736	MGEA5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049987.1	NM_012215		A	103577714	G	A	103577714	2	1	784	1	0	0	0	0	0	0	0	1	9557	1103	39	1		1	MGEA5	10	103577714	Silent	SNP	G	TCGA-SX-A71S-01A-11D-A33Q-10	12374196	103577714	31957033	72	46487											
PHRF1	57661	hgsc.bcm.edu	37	11	598434	598434	+	Missense_Mutation	SNP	G	G	A			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr11:598434G>A	ENST00000264555.5	+	9	1084	c.956G>A	c.(955-957)gGc>gAc	p.G319D	PHRF1_ENST00000533464.1_Missense_Mutation_p.G315D|PHRF1_ENST00000416188.2_Missense_Mutation_p.G319D|PHRF1_ENST00000413872.2_Missense_Mutation_p.G318D	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	319	Arg-rich.				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						GTGGCGACTGGCCTGAGCACT	0.657																																																0													29	37	34					11																	598434		2125	4237	6362	SO:0001583	missense	57661			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.956G>A	chr11.hg19:g.598434G>A	ENSP00000264555:p.Gly319Asp		A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	ENST00000264555.5	hg19		.	.	.	.	.	.	.	.	.	.	G	17.75	3.465596	0.63513	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	4.64	4.64	0.57946	.	0.000000	0.42420	D	0.000719	T	0.62368	0.2422	M	0.66939	2.045	0.51233	D	0.999914	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.999;0.998	T	0.66582	-0.5887	10	0.72032	D	0.01	-24.5391	14.6641	0.68893	0.0:0.0:1.0:0.0	.	315;318;319;319	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	D	319;318;319;315	ENSP00000264555:G319D;ENSP00000388589:G318D;ENSP00000410626:G319D;ENSP00000431870:G315D	ENSP00000264555:G319D	G	+	2	0	PHRF1	588434	1.000000	0.71417	0.651000	0.29564	0.079000	0.17450	7.543000	0.82106	2.134000	0.65973	0.491000	0.48974	GGC		0.657	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		A	598434	G	A	598434	3	1	784	1	0	0	0	0	1	0	0	0	11863	1203	42	2	986	2	PHRF1	11	598434	Missense_Mutation	SNP	G	TCGA-SX-A71S-01A-11D-A33Q-10		598434	134408082	73	46488											
EPS8L2	64787	hgsc.bcm.edu	37	11	721127	721127	+	Silent	SNP	C	C	A			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr11:721127C>A	ENST00000533256.1	+	9	996	c.621C>A	c.(619-621)ccC>ccA	p.P207P	AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000318562.8_Silent_p.P207P|EPS8L2_ENST00000526198.1_Silent_p.P223P|EPS8L2_ENST00000530636.1_Silent_p.P207P			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	207					positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	actin binding (GO:0003779)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCCCGGCGCCCATCCCCTTCC	0.736																																																0													9	11	10					11																	721127		2060	4086	6146	SO:0001819	synonymous_variant	64787			AF318331	CCDS31328.1	11p15.5	2008-02-05				ENSG00000177106			21296	protein-coding gene	gene with protein product		614988				12620401	Standard	NM_022772		Approved	FLJ21935, FLJ22171, MGC3088	uc001lqt.3	Q9H6S3		ENST00000533256.1:c.621C>A	chr11.hg19:g.721127C>A			B3KSX1|B7ZKL3|Q53GM8|Q8WYW7|Q96K06|Q9H6K9	Silent	SNP	ENST00000533256.1	hg19	CCDS31328.1																																																																																				0.736	EPS8L2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382344.1	NM_022772		A	721127	C	A	721127	2	1	784	1	0	0	0	0	0	0	0	1	5198	581	21	4		4	EPS8L2	11	721127	Silent	SNP	C	TCGA-SX-A71S-01A-11D-A33Q-10	122693	721127	134285389	74	46489											
OR52M1	119772	hgsc.bcm.edu	37	11	4566635	4566636	+	Frame_Shift_Ins	INS	-	-	C			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr11:4566635_4566636insC	ENST00000360213.1	+	1	215_216	c.215_216insC	c.(214-219)gacctgfs	p.L73fs		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	73						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)		GCTGCCATTGACCTGGTTCTGT	0.515																																																0																																										SO:0001589	frameshift_variant	119772			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.217dupC	chr11.hg19:g.4566637_4566637dupC	ENSP00000353343:p.Leu73fs			Frame_Shift_Ins	INS	ENST00000360213.1	hg19	CCDS31353.1																																																																																				0.515	OR52M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385847.1	NM_001004137		C	4566636	-	C	4566635	7	5	784	1	0	1	1	0	0	0	0	0	11128	275	10	0	217	0	OR52M1	11	4566635	Frame_Shift_Ins	INS	-	TCGA-SX-A71S-01A-11D-A33Q-10	3845508	4566635	130439881	75	46490											
OR51D1	390038	hgsc.bcm.edu	37	11	4661416	4661416	+	Silent	SNP	T	T	C			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr11:4661416T>C	ENST00000357605.2	+	1	472	c.396T>C	c.(394-396)gcT>gcC	p.A132A		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	132						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)		TGGCCATGGCTTTTGACCGCT	0.557																																																0													135	111	119					11																	4661416		2201	4298	6499	SO:0001819	synonymous_variant	390038			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.396T>C	chr11.hg19:g.4661416T>C			B9EIK4	Silent	SNP	ENST00000357605.2	hg19	CCDS31357.1																																																																																				0.557	OR51D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385956.1	NM_001004751		C	4661416	T	C	4661416	2	2	784	1	0	0	0	0	0	0	0	1	11095	1596	56	3		3	OR51D1	11	4661416	Silent	SNP	T	TCGA-SX-A71S-01A-11D-A33Q-10	94781	4661416	130345100	76	46491											
FERMT3	83706	hgsc.bcm.edu	37	11	63978141	63978141	+	Silent	SNP	G	G	A			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr11:63978141G>A	ENST00000279227.5	+	3	314	c.219G>A	c.(217-219)ctG>ctA	p.L73L	FERMT3_ENST00000345728.5_Silent_p.L73L	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	73					integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|platelet aggregation (GO:0070527)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|podosome (GO:0002102)	integrin binding (GO:0005178)			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						GGCAGTGGCTGCTGCAGACCC	0.622																																																0													127	117	120					11																	63978141		2201	4297	6498	SO:0001819	synonymous_variant	83706			L25343	CCDS8059.1, CCDS8060.1	11q13.1	2014-09-17	2010-06-24		ENSG00000149781	ENSG00000149781		"Fermitins", "Pleckstrin homology (PH) domain containing"	23151	protein-coding gene	gene with protein product	"kindlin-3"	607901	"fermitin family homolog 3 (Drosophila)"				Standard	NM_178443		Approved	URP2, KIND3, MIG2B, MGC10966, MIG-2, UNC112C	uc001nym.2	Q86UX7	OTTHUMG00000167790	ENST00000279227.5:c.219G>A	chr11.hg19:g.63978141G>A			Q8IUA1|Q8N207|Q9BT48	Silent	SNP	ENST00000279227.5	hg19	CCDS8060.1																																																																																				0.622	FERMT3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396297.1	NM_031471		A	63978141	G	A	63978141	2	1	784	1	0	0	0	0	0	0	0	1	5821	1306	46	2		2	FERMT3	11	63978141	Silent	SNP	G	TCGA-SX-A71S-01A-11D-A33Q-10	59316725	63978141	71028375	77	46492											
C11orf80	79703	hgsc.bcm.edu	37	11	66610424	66610425	+	Frame_Shift_Ins	INS	-	-	C			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr11:66610424_66610425insC	ENST00000360962.4	+	16	1859_1860	c.1852_1853insC	c.(1852-1854)gccfs	p.A618fs	C11orf80_ENST00000525449.2_Frame_Shift_Ins_p.A426fs|RCE1_ENST00000525356.1_5'Flank|RCE1_ENST00000524506.1_5'Flank|C11orf80_ENST00000532565.2_Frame_Shift_Ins_p.A400fs|C11orf80_ENST00000346672.4_Frame_Shift_Ins_p.A427fs|C11orf80_ENST00000527634.1_Frame_Shift_Ins_p.A401fs|C11orf80_ENST00000540737.1_Frame_Shift_Ins_p.A452fs|RCE1_ENST00000309657.3_5'Flank	NM_024650.3	NP_078926.3	Q8N6T0	CK080_HUMAN	chromosome 11 open reading frame 80	618										autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						GTCAGAGGCCGCCCCGCGCCGC	0.733																																																0																																										SO:0001589	frameshift_variant	79703					11q13.2	2012-05-30			ENSG00000173715	ENSG00000173715			26197	protein-coding gene	gene with protein product						18160775	Standard	NM_024650		Approved	FLJ22531	uc021qmd.1	Q8N6T0	OTTHUMG00000167164	ENST00000360962.4:c.1856dupC	chr11.hg19:g.66610428_66610428dupC	ENSP00000354227:p.Ala618fs		Q9H677	Frame_Shift_Ins	INS	ENST00000360962.4	hg19	CCDS53664.1																																																																																				0.733	C11orf80-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_024650		C	66610425	-	C	66610424	7	5	784	1	0	1	1	0	0	0	0	0	1666	1087	38	0	1914	0	C11orf80	11	66610424	Frame_Shift_Ins	INS	-	TCGA-SX-A71S-01A-11D-A33Q-10	2632283	66610424	68396092	78	46493											
ANKRD13D	338692	hgsc.bcm.edu	37	11	67057877	67057877	+	Missense_Mutation	SNP	G	G	A			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr11:67057877G>A	ENST00000447274.2	+	3	1225	c.50G>A	c.(49-51)aGg>aAg	p.R17K	ANKRD13D_ENST00000511455.2_Missense_Mutation_p.R104K|ANKRD13D_ENST00000308440.6_Missense_Mutation_p.R17K|ANKRD13D_ENST00000514166.1_Missense_Mutation_p.R17K			Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	17						endosome (GO:0005768)|plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GCCACGCAGAGGCTGGCGGGC	0.627																																																0													76	47	57					11																	67057877		2193	4291	6484	SO:0001583	missense	338692			AK027313	CCDS31616.1, CCDS31616.2	11q13.2	2013-01-11		2005-08-09	ENSG00000172932	ENSG00000172932		"Ankyrin repeat domain containing"	27880	protein-coding gene	gene with protein product		615126					Standard	NM_207354		Approved		uc001okd.2	Q6ZTN6	OTTHUMG00000162929	ENST00000447274.2:c.50G>A	chr11.hg19:g.67057877G>A	ENSP00000402616:p.Arg17Lys		D6RCN6|Q0VAK0|Q0VGC3|Q6ZVD0|Q86SU1	Missense_Mutation	SNP	ENST00000447274.2	hg19		.	.	.	.	.	.	.	.	.	.	G	34	5.342333	0.95783	.	.	ENSG00000172932	ENST00000447274;ENST00000511455;ENST00000308440;ENST00000514166	T;T;T;T	0.31769	1.48;1.67;1.48;1.48	3.52	3.52	0.40303	.	0.058843	0.64402	D	0.000004	T	0.50240	0.1604	M	0.77103	2.36	0.58432	D	0.999996	D;P	0.76494	0.999;0.757	D;B	0.71656	0.974;0.397	T	0.52162	-0.8612	10	0.07990	T	0.79	-28.4454	15.0538	0.71897	0.0:0.0:1.0:0.0	.	104;17	Q6ZTN6-3;Q6ZTN6	.;AN13D_HUMAN	K	17;104;17;17	ENSP00000402616:R17K;ENSP00000427130:R104K;ENSP00000310874:R17K;ENSP00000444404:R17K	ENSP00000310874:R17K	R	+	2	0	ANKRD13D	66814453	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	6.544000	0.73878	2.265000	0.75225	0.655000	0.94253	AGG		0.627	ANKRD13D-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000371067.2	NM_207354		A	67057877	G	A	67057877	3	1	784	1	0	0	0	0	1	0	0	0	644	1000	35	2	321	2	ANKRD13D	11	67057877	Missense_Mutation	SNP	G	TCGA-SX-A71S-01A-11D-A33Q-10	447453	67057877	67948639	79	46494											
PAK1	5058	hgsc.bcm.edu	37	11	77103498	77103498	+	Missense_Mutation	SNP	A	A	G			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr11:77103498A>G	ENST00000356341.3	-	2	599	c.68T>C	c.(67-69)aTg>aCg	p.M23T	PAK1_ENST00000528203.1_Intron|PAK1_ENST00000530617.1_Missense_Mutation_p.M23T|PAK1_ENST00000278568.4_Missense_Mutation_p.M23T	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	23					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)					GGCTCCAATCATAGTGCTGGT	0.483																																																0													110	103	105					11																	77103498		2200	4292	6492	SO:0001583	missense	5058			U51120	CCDS8250.1, CCDS44687.1	11q13-q14	2008-06-17	2008-06-17						8590	protein-coding gene	gene with protein product	"STE20 homolog, yeast"	602590	"p21/Cdc42/Rac1-activated kinase 1 (yeast Ste20-related)", "p21/Cdc42/Rac1-activated kinase 1 (STE20 homolog, yeast)"			8805275, 9533029	Standard	NM_002576		Approved		uc001oyg.4	Q13153		ENST00000356341.3:c.68T>C	chr11.hg19:g.77103498A>G	ENSP00000348696:p.Met23Thr		O75561|Q13567|Q32M53|Q32M54|Q86W79	Missense_Mutation	SNP	ENST00000356341.3	hg19	CCDS8250.1	.	.	.	.	.	.	.	.	.	.	A	15.36	2.809226	0.50421	.	.	ENSG00000149269	ENST00000356341;ENST00000530617;ENST00000278568;ENST00000529248;ENST00000524847;ENST00000528592;ENST00000528633;ENST00000526968	T;T;T	0.69806	-0.4;-0.43;-0.43	6.17	6.17	0.99709	.	0.034131	0.85682	D	0.000000	T	0.61837	0.2379	L	0.43152	1.355	0.80722	D	1	B;B;B	0.23185	0.025;0.081;0.034	B;B;B	0.31390	0.045;0.129;0.062	T	0.56511	-0.7967	10	0.19590	T	0.45	.	15.3933	0.74767	1.0:0.0:0.0:0.0	.	23;23;23	B3KNX7;Q13153;Q13153-2	.;PAK1_HUMAN;.	T	23	ENSP00000348696:M23T;ENSP00000433423:M23T;ENSP00000278568:M23T	ENSP00000278568:M23T	M	-	2	0	PAK1	76781146	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.074000	0.89500	2.371000	0.80710	0.533000	0.62120	ATG		0.483	PAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382083.2	NM_002576		G	77103498	A	G	77103498	3	3	784	1	0	0	0	0	1	0	0	0	11401	217	8	3	1678	3	PAK1	11	77103498	Missense_Mutation	SNP	A	TCGA-SX-A71S-01A-11D-A33Q-10	10045621	77103498	57903018	80	46495											
MLL	4297	hgsc.bcm.edu	37	11	118366483	118366483	+	Missense_Mutation	SNP	G	G	A			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr11:118366483G>A	ENST00000389506.5	+	19	5423	c.5423G>A	c.(5422-5424)cGa>cAa	p.R1808Q	KMT2A_ENST00000354520.4_Missense_Mutation_p.R1770Q|KMT2A_ENST00000534358.1_Missense_Mutation_p.R1811Q			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1808					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)										TGGCAGGAGCGAGAGGAAAAC	0.458																																																0													111	112	112					11																	118366483		2200	4296	6496	SO:0001583	missense	4297			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.5423G>A	chr11.hg19:g.118366483G>A	ENSP00000374157:p.Arg1808Gln		E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	hg19	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.941101	0.92526	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.84800	-1.89;-1.9;-1.81	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.88115	0.6350	L	0.31664	0.95	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.79108	0.919;0.992	D	0.86200	0.1618	10	0.33141	T	0.24	.	18.2774	0.90087	0.0:0.0:1.0:0.0	.	1811;1808	E9PQG7;Q03164	.;MLL1_HUMAN	Q	1811;1808;1770;718	ENSP00000436786:R1811Q;ENSP00000374157:R1808Q;ENSP00000346516:R1770Q	ENSP00000346516:R1770Q	R	+	2	0	MLL	117871693	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.411000	0.80078	2.830000	0.97506	0.585000	0.79938	CGA		0.458	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		A	118366483	G	A	118366483	3	1	784	1	0	0	0	0	1	0	0	0	9622	1058	37	1	5497	1	MLL	11	118366483	Missense_Mutation	SNP	G	TCGA-SX-A71S-01A-11D-A33Q-10	41262985	118366483	16640033	81	46496											
VWF	7450	hgsc.bcm.edu	37	12	6120943	6120943	+	Silent	SNP	G	G	C			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr12:6120943G>C	ENST00000261405.5	-	34	5936	c.5682C>G	c.(5680-5682)acC>acG	p.T1894T		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1894					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)	GGTCTGGCAAGGTCCAGACGT	0.582																																																0													11	13	13					12																	6120943		2190	4266	6456	SO:0001819	synonymous_variant	7450				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.5682C>G	chr12.hg19:g.6120943G>C			Q8TCE8|Q99806	Silent	SNP	ENST00000261405.5	hg19	CCDS8539.1																																																																																				0.582	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		C	6120943	G	C	6120943	2	2	784	1	0	0	0	0	0	0	0	1	17251	987	35	4		4	VWF	12	6120943	Silent	SNP	G	TCGA-SX-A71S-01A-11D-A33Q-10		6120943	127730952	82	46497											
CLEC4D	338339	hgsc.bcm.edu	37	12	8672900	8672900	+	Missense_Mutation	SNP	C	C	T			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr12:8672900C>T	ENST00000299665.2	+	5	656	c.463C>T	c.(463-465)Cgt>Tgt	p.R155C		NM_080387.4	NP_525126.2	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	155	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				innate immune response (GO:0045087)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.R155C(1)		large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					AGGTCAGTGGCGTTGGGTGGA	0.403																																																1	Substitution - Missense(1)	lung(1)											97	98	98					12																	8672900		2203	4300	6503	SO:0001583	missense	338339			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.463C>T	chr12.hg19:g.8672900C>T	ENSP00000299665:p.Arg155Cys		Q8N5J5	Missense_Mutation	SNP	ENST00000299665.2	hg19	CCDS8593.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.983050	0.53827	.	.	ENSG00000166527	ENST00000299665	T	0.18502	2.21	4.67	1.48	0.22813	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.	.	.	.	T	0.17238	0.0414	M	0.76727	2.345	0.27413	N	0.954503	B	0.10296	0.003	B	0.09377	0.004	T	0.23976	-1.0173	8	.	.	.	.	3.4237	0.07402	0.1972:0.5788:0.0:0.224	.	155	Q8WXI8	CLC4D_HUMAN	C	155	ENSP00000299665:R155C	.	R	+	1	0	CLEC4D	8564167	0.099000	0.21834	0.689000	0.30133	0.721000	0.41392	0.074000	0.14662	0.606000	0.29965	-0.135000	0.14842	CGT		0.403	CLEC4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400565.1	NM_080387		T	8672900	C	T	8672900	3	4	784	1	0	0	0	0	1	0	0	0	3516	768	27	1	481	1	CLEC4D	12	8672900	Missense_Mutation	SNP	C	TCGA-SX-A71S-01A-11D-A33Q-10	2551957	8672900	125178995	83	46498											
MAGOHB	55110	hgsc.bcm.edu	37	12	10762497	10762497	+	Missense_Mutation	SNP	A	A	C			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr12:10762497A>C	ENST00000320756.2	-	3	287	c.197T>G	c.(196-198)aTt>aGt	p.I66S	MAGOHB_ENST00000381881.2_Intron|MAGOHB_ENST00000539554.1_Missense_Mutation_p.I20S	NM_018048.3	NP_060518.1	Q96A72	MGN2_HUMAN	mago-nashi homolog B (Drosophila)	66					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						ACTGTCATCAATAATTCTCTT	0.368																																																0													128	127	127					12																	10762497		2203	4300	6503	SO:0001583	missense	55110				CCDS8628.1	12p13.2	2014-02-12	2008-01-24		ENSG00000111196	ENSG00000111196			25504	protein-coding gene	gene with protein product							Standard	NM_018048		Approved	FLJ10292, MGN2	uc001qyq.2	Q96A72	OTTHUMG00000168407	ENST00000320756.2:c.197T>G	chr12.hg19:g.10762497A>C	ENSP00000319240:p.Ile66Ser			Missense_Mutation	SNP	ENST00000320756.2	hg19	CCDS8628.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.153073	0.78001	.	.	ENSG00000111196	ENST00000539554;ENST00000320756	.	.	.	4.61	4.61	0.57282	.	0.000000	0.85682	U	0.000000	D	0.84982	0.5593	M	0.93420	3.415	0.80722	D	1	D	0.69078	0.997	D	0.75484	0.986	D	0.88474	0.3064	9	0.87932	D	0	.	12.6083	0.56535	1.0:0.0:0.0:0.0	.	66	Q96A72	MGN2_HUMAN	S	20;66	.	ENSP00000319240:I66S	I	-	2	0	MAGOHB	10653764	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.162000	0.89657	2.293000	0.77203	0.482000	0.46254	ATT		0.368	MAGOHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399616.1	NM_018048		C	10762497	A	C	10762497	3	2	784	1	0	0	0	0	1	0	0	0	9197	101	4	5	261	5	MAGOHB	12	10762497	Missense_Mutation	SNP	A	TCGA-SX-A71S-01A-11D-A33Q-10	2089597	10762497	123089398	84	46499											
LIMA1	51474	hgsc.bcm.edu	37	12	50571335	50571336	+	Frame_Shift_Ins	INS	-	-	A			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr12:50571335_50571336insA	ENST00000341247.4	-	11	1940_1941	c.1791_1792insT	c.(1789-1794)tttcaafs	p.Q598fs	LIMA1_ENST00000552909.1_Frame_Shift_Ins_p.Q437fs|LIMA1_ENST00000552783.1_Frame_Shift_Ins_p.Q439fs|LIMA1_ENST00000394943.3_Frame_Shift_Ins_p.Q599fs|LIMA1_ENST00000552823.1_Frame_Shift_Ins_p.Q438fs|LIMA1_ENST00000547825.1_Frame_Shift_Ins_p.Q296fs|LIMA1_ENST00000552491.1_Frame_Shift_Ins_p.Q295fs	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	598					actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270)	p.Q598E(1)		NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						GAGGTGCTTTGAAATGAAGCTG	0.495																																																1	Substitution - Missense(1)	lung(1)																																								SO:0001589	frameshift_variant	51474			AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405			24636	protein-coding gene	gene with protein product	"epithelial protein lost in neoplasm beta"	608364				10806352, 10618726, 12566430	Standard	NM_016357		Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000341247.4:c.1792dupT	chr12.hg19:g.50571338_50571338dupA	ENSP00000340184:p.Gln598fs		B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Frame_Shift_Ins	INS	ENST00000341247.4	hg19	CCDS8802.1																																																																																				0.495	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406235.2	NM_016357		A	50571336	-	A	50571335	7	5	784	1	0	1	1	0	0	0	0	0	8798	1299	45	0	491	0	LIMA1	12	50571335	Frame_Shift_Ins	INS	-	TCGA-SX-A71S-01A-11D-A33Q-10	39808838	50571335	83280560	85	46500											
PTPRR	5801	hgsc.bcm.edu	37	12	71155251	71155251	+	Splice_Site	SNP	C	C	A			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr12:71155251C>A	ENST00000283228.2	-	4	1079	c.627G>T	c.(625-627)gaG>gaT	p.E209D	PTPRR_ENST00000342084.4_Splice_Site_p.E97D	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	209					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)		AACAACATACCTCAGGAGAGA	0.373																																																0													124	127	126					12																	71155251		2203	4300	6503	SO:0001630	splice_region_variant	5801			D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.627+1G>T	chr12.hg19:g.71155251C>A			B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Missense_Mutation	SNP	ENST00000283228.2	hg19	CCDS8998.1	.	.	.	.	.	.	.	.	.	.	C	15.46	2.839074	0.51057	.	.	ENSG00000153233	ENST00000283228;ENST00000342084	T;T	0.35421	1.31;1.31	5.68	5.68	0.88126	.	0.121494	0.36234	U	0.002712	T	0.52403	0.1732	L	0.57536	1.79	0.80722	D	1	D;D	0.55605	0.967;0.972	P;P	0.55391	0.775;0.675	T	0.41431	-0.9509	9	.	.	.	-17.9149	19.7965	0.96487	0.0:1.0:0.0:0.0	.	97;209	F5GXR7;Q15256	.;PTPRR_HUMAN	D	209;97	ENSP00000283228:E209D;ENSP00000339605:E97D	.	E	-	3	2	PTPRR	69441518	1.000000	0.71417	1.000000	0.80357	0.128000	0.20619	6.292000	0.72725	2.686000	0.91538	0.448000	0.29417	GAG		0.373	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849	Missense_Mutation	A	71155251	C	A	71155251	5	1	784	1	0	0	0	0	0	0	1	0	12816	695	24	4	1390	4	PTPRR	12	71155251	Splice_Site	SNP	C	TCGA-SX-A71S-01A-11D-A33Q-10	20583916	71155251	62696644	86	46501											
APAF1	317	hgsc.bcm.edu	37	12	99109218	99109218	+	Frame_Shift_Del	DEL	T	T	-			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr12:99109218delT	ENST00000551964.1	+	22	3708	c.2972delT	c.(2971-2973)gtafs	p.V991fs	APAF1_ENST00000550527.1_Frame_Shift_Del_p.V980fs|APAF1_ENST00000547045.1_Frame_Shift_Del_p.V948fs|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000357310.1_Frame_Shift_Del_p.V948fs|APAF1_ENST00000339433.3_Frame_Shift_Del_p.V948fs|APAF1_ENST00000359972.2_Frame_Shift_Del_p.V937fs|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000549007.1_Frame_Shift_Del_p.V948fs	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	991					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)	TTAGAACTTGTAAACAATAGA	0.343																																																0													62	60	60					12																	99109218		2203	4300	6503	SO:0001589	frameshift_variant	317			AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"WD repeat domain containing"	576	protein-coding gene	gene with protein product		602233	"apoptotic protease activating factor", "apoptotic peptidase activating factor"			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.2972delT	chr12.hg19:g.99109218delT	ENSP00000448165:p.Val991fs		B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Frame_Shift_Del	DEL	ENST00000551964.1	hg19	CCDS9069.1																																																																																				0.343	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	NM_181861.1		-	99109218	T	-	99109218	7	5	784	1	0	1	0	1	0	0	0	0	755	1638	57	0	3054	0	APAF1	12	99109218	Frame_Shift_Del	DEL	T	TCGA-SX-A71S-01A-11D-A33Q-10	27953967	99109218	34742677	87	46502											
DTX1	1840	hgsc.bcm.edu	37	12	113531444	113531444	+	Silent	SNP	G	G	T			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr12:113531444G>T	ENST00000257600.3	+	4	1607	c.1104G>T	c.(1102-1104)gtG>gtT	p.V368V	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	368	Pro-rich.				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						AGAGCGACGTGAAGCCCGTGC	0.677																																																0													22	28	26					12																	113531444		2203	4299	6502	SO:0001819	synonymous_variant	1840			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.1104G>T	chr12.hg19:g.113531444G>T			O60630|Q9BS04	Silent	SNP	ENST00000257600.3	hg19	CCDS9164.1																																																																																				0.677	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2			T	113531444	G	T	113531444	2	4	784	1	0	0	0	0	0	0	0	1	4795	1277	45	4		4	DTX1	12	113531444	Silent	SNP	G	TCGA-SX-A71S-01A-11D-A33Q-10	14422226	113531444	20320451	88	46503											
KCTD12	115207	hgsc.bcm.edu	37	13	77459491	77459491	+	Missense_Mutation	SNP	G	G	C			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr13:77459491G>C	ENST00000377474.2	-	1	1034	c.793C>G	c.(793-795)Cgc>Ggc	p.R265G	AC000403.1_ENST00000579275.1_RNA|KCTD12_ENST00000317765.2_Missense_Mutation_p.R265G	NM_138444.3	NP_612453.1	Q96CX2	KCD12_HUMAN	potassium channel tetramerization domain containing 12	265					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4		Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.0499)		GAGGTGTAGCGCTCCGGGGGA	0.637											OREG0022449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													38	33	35					13																	77459491		2203	4300	6503	SO:0001583	missense	115207			AF359381	CCDS9455.1	13q21	2013-06-20	2013-06-20	2003-11-26	ENSG00000178695	ENSG00000178695			14678	protein-coding gene	gene with protein product	"predominantly fetal expressed T1 domain"	610521	"chromosome 13 open reading frame 2", "potassium channel tetramerisation domain containing 12"	C13orf2		15357420	Standard	NM_138444		Approved	KIAA1778, PFET1	uc010aeu.1	Q96CX2	OTTHUMG00000017096	ENST00000377474.2:c.793C>G	chr13.hg19:g.77459491G>C	ENSP00000366694:p.Arg265Gly	1175		Missense_Mutation	SNP	ENST00000377474.2	hg19	CCDS9455.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.197163	0.58126	.	.	ENSG00000178695	ENST00000377474;ENST00000317765	T;T	0.55588	0.51;0.51	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.52240	0.1722	M	0.68952	2.095	0.80722	D	1	P	0.44578	0.838	B	0.41088	0.347	T	0.59343	-0.7472	10	0.56958	D	0.05	.	12.9674	0.58492	0.0:0.0:0.838:0.162	.	265	Q96CX2	KCD12_HUMAN	G	265	ENSP00000366694:R265G;ENSP00000317141:R265G	ENSP00000317141:R265G	R	-	1	0	KCTD12	76357492	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.246000	0.32803	2.399000	0.81585	0.462000	0.41574	CGC		0.637	KCTD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045309.2	NM_138444		C	77459491	G	C	77459491	3	2	784	1	0	0	0	0	1	0	0	0	8101	1087	38	4	188	4	KCTD12	13	77459491	Missense_Mutation	SNP	G	TCGA-SX-A71S-01A-11D-A33Q-10		77459491	37710387	89	46504											
CPNE6	9362	hgsc.bcm.edu	37	14	24546923	24546923	+	Missense_Mutation	SNP	C	C	A			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr14:24546923C>A	ENST00000397016.2	+	17	1969	c.1658C>A	c.(1657-1659)cCc>cAc	p.P553H	CPNE6_ENST00000216775.2_Missense_Mutation_p.P553H|CPNE6_ENST00000537691.1_Missense_Mutation_p.P608H	NM_001280558.1	NP_001267487.1	O95741	CPNE6_HUMAN	copine VI (neuronal)	553					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)		GCTACGACTCCCAGCCCTAGC	0.652																																																0													32	34	33					14																	24546923		2200	4300	6500	SO:0001583	missense	9362			AB009288	CCDS9607.1, CCDS61413.1	14q11.2	2008-07-09			ENSG00000100884	ENSG00000100884			2319	protein-coding gene	gene with protein product		605688				9645480	Standard	NM_001280558		Approved		uc001wll.3	O95741	OTTHUMG00000028781	ENST00000397016.2:c.1658C>A	chr14.hg19:g.24546923C>A	ENSP00000380211:p.Pro553His		B2RAG6|B7Z1M3|D3DS55|F5GXN1|Q53HA6|Q8WVG1	Missense_Mutation	SNP	ENST00000397016.2	hg19	CCDS9607.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.851144	0.51270	.	.	ENSG00000100884	ENST00000537691;ENST00000397016;ENST00000216775	T;T;T	0.07567	3.18;3.22;3.22	5.3	5.3	0.74995	.	0.000000	0.47455	D	0.000232	T	0.11495	0.0280	L	0.53249	1.67	0.40964	D	0.98464	P;B	0.41569	0.755;0.036	B;B	0.42386	0.386;0.063	T	0.01136	-1.1440	10	0.66056	D	0.02	-1.2104	9.9851	0.41837	0.0:0.9081:0.0:0.0919	.	608;553	F5GXN1;O95741	.;CPNE6_HUMAN	H	608;553;553	ENSP00000440077:P608H;ENSP00000380211:P553H;ENSP00000216775:P553H	ENSP00000216775:P553H	P	+	2	0	CPNE6	23616763	0.873000	0.30073	0.996000	0.52242	0.727000	0.41649	1.078000	0.30754	2.467000	0.83353	0.561000	0.74099	CCC		0.652	CPNE6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071869.5			A	24546923	C	A	24546923	3	1	784	1	0	0	0	0	1	0	0	0	3818	623	22	4	1716	4	CPNE6	14	24546923	Missense_Mutation	SNP	C	TCGA-SX-A71S-01A-11D-A33Q-10		24546923	82802617	90	46505											
TXNDC16	57544	hgsc.bcm.edu	37	14	52899033	52899033	+	Nonsense_Mutation	SNP	T	T	A			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr14:52899033T>A	ENST00000281741.4	-	21	2838	c.2467A>T	c.(2467-2469)Aaa>Taa	p.K823*		NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	823					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)					TAGTTCACTTTTGAGCATCCT	0.289																																																0													72	67	69					14																	52899033		2203	4299	6502	SO:0001587	stop_gained	57544			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.2467A>T	chr14.hg19:g.52899033T>A	ENSP00000281741:p.Lys823*		A5PKW9|A7E260|A7MD07|B9EH67|Q9H9W7	Nonsense_Mutation	SNP	ENST00000281741.4	hg19	CCDS32083.1	.	.	.	.	.	.	.	.	.	.	T	38	6.750790	0.97813	.	.	ENSG00000087301	ENST00000281741	.	.	.	5.07	-0.183	0.13284	.	1.550970	0.04296	N	0.346487	.	.	.	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.9709	7.2863	0.26342	0.0:0.0915:0.5545:0.3539	.	.	.	.	X	823	.	ENSP00000281741:K823X	K	-	1	0	TXNDC16	51968783	0.041000	0.20044	0.012000	0.15200	0.006000	0.05464	0.206000	0.17375	0.019000	0.15079	-0.340000	0.08031	AAA		0.289	TXNDC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411681.1	XM_051699		A	52899033	T	A	52899033	4	1	784	1	0	0	0	0	0	1	0	0	16800	1850	64	5	14	5	TXNDC16	14	52899033	Nonsense_Mutation	SNP	T	TCGA-SX-A71S-01A-11D-A33Q-10	28352110	52899033	54450507	91	46506											
YLPM1	56252	hgsc.bcm.edu	37	14	75265567	75265567	+	Silent	SNP	T	T	C			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr14:75265567T>C	ENST00000325680.7	+	5	3691	c.3567T>C	c.(3565-3567)ccT>ccC	p.P1189P	YLPM1_ENST00000552421.1_Intron|YLPM1_ENST00000238571.3_Silent_p.P994P	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	994	Arg-rich.				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)		ATGAGCCTCCTAGGGCTCCAT	0.483																																																0													60	58	58					14																	75265567		1899	4114	6013	SO:0001819	synonymous_variant	56252			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.3567T>C	chr14.hg19:g.75265567T>C			P49752|Q96I64|Q9P1V7	Silent	SNP	ENST00000325680.7	hg19	CCDS45135.1																																																																																				0.483	YLPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404451.1	NM_019589		C	75265567	T	C	75265567	2	2	784	1	0	0	0	0	0	0	0	1	17491	1509	53	3		3	YLPM1	14	75265567	Silent	SNP	T	TCGA-SX-A71S-01A-11D-A33Q-10	22366534	75265567	32083973	92	46507											
C14orf159	80017	hgsc.bcm.edu	37	14	91642285	91642285	+	Silent	SNP	G	G	A			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr14:91642285G>A	ENST00000523771.1	+	7	1203	c.600G>A	c.(598-600)ttG>ttA	p.L200L	C14orf159_ENST00000522322.1_Silent_p.L200L|C14orf159_ENST00000428926.2_Silent_p.L200L|C14orf159_ENST00000518868.1_Silent_p.L205L|C14orf159_ENST00000520328.1_Silent_p.L188L|C14orf159_ENST00000521077.2_Silent_p.L205L|C14orf159_ENST00000523816.1_Silent_p.L200L|C14orf159_ENST00000412671.2_Silent_p.L205L|C14orf159_ENST00000256324.10_Silent_p.L205L|C14orf159_ENST00000525393.2_Silent_p.L76L			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	200						mitochondrion (GO:0005739)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		CAGAACTGTTGGGAATCAAAG	0.483																																																0													105	99	101					14																	91642285		2203	4300	6503	SO:0001819	synonymous_variant	80017			AK097294	CCDS32141.1, CCDS41979.1, CCDS45150.1, CCDS66693.1, CCDS73677.1	14q32.11	2012-09-26			ENSG00000133943	ENSG00000133943			20498	protein-coding gene	gene with protein product							Standard	NM_001102367		Approved	FLJ39975	uc001xze.2	Q7Z3D6	OTTHUMG00000164980	ENST00000523771.1:c.600G>A	chr14.hg19:g.91642285G>A			B3KUI7|Q86SW3|Q86SX8|Q86SX9|Q86T08|Q86TV5|Q96GW5|Q9H7G0|Q9H8Y9|Q9H9W6	Silent	SNP	ENST00000523771.1	hg19	CCDS32141.1																																																																																				0.483	C14orf159-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381273.1	NM_024952		A	91642285	G	A	91642285	2	1	784	1	0	0	0	0	0	0	0	1	1757	1339	47	2		2	C14orf159	14	91642285	Silent	SNP	G	TCGA-SX-A71S-01A-11D-A33Q-10	16376718	91642285	15707255	93	46508											
DYNC1H1	1778	hgsc.bcm.edu	37	14	102514292	102514292	+	Missense_Mutation	SNP	C	C	G			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr14:102514292C>G	ENST00000360184.4	+	73	13309	c.13145C>G	c.(13144-13146)aCc>aGc	p.T4382S	RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4382					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						ACACTGCACACCACCGCGTCC	0.642																																																0													118	73	88					14																	102514292		2203	4300	6503	SO:0001583	missense	1778			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.13145C>G	chr14.hg19:g.102514292C>G	ENSP00000348965:p.Thr4382Ser		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	hg19	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	C	11.14	1.550260	0.27652	.	.	ENSG00000197102	ENST00000360184	T	0.08193	3.12	5.37	5.37	0.77165	Dynein heavy chain (1);	0.160376	0.56097	D	0.000033	T	0.06005	0.0156	N	0.20766	0.605	0.49130	D	0.999759	B	0.02656	0.0	B	0.06405	0.002	T	0.41484	-0.9506	10	0.18710	T	0.47	.	12.4528	0.55686	0.0:0.9233:0.0:0.0767	.	4382	Q14204	DYHC1_HUMAN	S	4382	ENSP00000348965:T4382S	ENSP00000348965:T4382S	T	+	2	0	DYNC1H1	101584045	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	3.949000	0.56668	2.509000	0.84616	0.655000	0.94253	ACC		0.642	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		G	102514292	C	G	102514292	3	3	784	1	0	0	0	0	1	0	0	0	4843	507	18	4	13435	4	DYNC1H1	14	102514292	Missense_Mutation	SNP	C	TCGA-SX-A71S-01A-11D-A33Q-10	10872007	102514292	4835248	94	46509											
HERC2	8924	hgsc.bcm.edu	37	15	28457714	28457714	+	Missense_Mutation	SNP	A	A	G			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr15:28457714A>G	ENST00000261609.7	-	43	6910	c.6802T>C	c.(6802-6804)Ttt>Ctt	p.F2268L		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)		TTCACATTAAAGGCCACGGCA	0.478																																																0													12	12	12					15																	28457714		2161	4231	6392	SO:0001583	missense	8924			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.6802T>C	chr15.hg19:g.28457714A>G	ENSP00000261609:p.Phe2268Leu			Missense_Mutation	SNP	ENST00000261609.7	hg19	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	A	15.66	2.900211	0.52227	.	.	ENSG00000128731	ENST00000261609	T	0.48522	0.81	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.67183	0.2866	M	0.80422	2.495	0.80722	D	1	P	0.49447	0.924	P	0.60682	0.878	T	0.72766	-0.4194	10	0.72032	D	0.01	.	14.0923	0.65000	1.0:0.0:0.0:0.0	.	2268	O95714	HERC2_HUMAN	L	2268	ENSP00000261609:F2268L	ENSP00000261609:F2268L	F	-	1	0	HERC2	26131309	1.000000	0.71417	0.179000	0.23059	0.494000	0.33585	9.125000	0.94402	1.906000	0.55180	0.254000	0.18369	TTT		0.478	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		G	28457714	A	G	28457714	3	3	784	1	0	0	0	0	1	0	0	0	7060	72	3	3	7906	3	HERC2	15	28457714	Missense_Mutation	SNP	A	TCGA-SX-A71S-01A-11D-A33Q-10		28457714	74073678	95	46510											
CALML4	91860	hgsc.bcm.edu	37	15	68489951	68489951	+	Missense_Mutation	SNP	A	A	C			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr15:68489951A>C	ENST00000467889.1	-	4	504	c.320T>G	c.(319-321)cTg>cGg	p.L107R	CALML4_ENST00000448060.2_Missense_Mutation_p.L60R|RP11-315D16.2_ENST00000562767.1_Silent_p.A33A|CALML4_ENST00000395465.3_Intron|CALML4_ENST00000540479.1_Missense_Mutation_p.L31R	NM_033429.2	NP_219501.2	Q96GE6	CALL4_HUMAN	calmodulin-like 4	107	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4						GGAGAAATCCAGCTCTCCATT	0.478																																																0													104	95	98					15																	68489951		1887	4129	6016	SO:0001583	missense	91860			AF308287	CCDS10226.2, CCDS42052.1, CCDS66808.1	15q22.31	2013-01-10			ENSG00000129007	ENSG00000129007		"EF-hand domain containing"	18445	protein-coding gene	gene with protein product							Standard	NM_033429		Approved	MGC4809, NY-BR-20	uc002arb.3	Q96GE6	OTTHUMG00000133287	ENST00000467889.1:c.320T>G	chr15.hg19:g.68489951A>C	ENSP00000419081:p.Leu107Arg		B4DL15|F8W6Y4|Q6MZY3|Q6N048|Q9H286	Missense_Mutation	SNP	ENST00000467889.1	hg19	CCDS10226.2	.	.	.	.	.	.	.	.	.	.	A	21.1	4.101169	0.76983	.	.	ENSG00000129007	ENST00000448060;ENST00000540479;ENST00000467889	T;T;T	0.80738	-1.41;0.68;-1.18	5.0	5.0	0.66597	EF-hand-like domain (1);	0.073080	0.56097	D	0.000024	D	0.91422	0.7293	M	0.91561	3.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	D	0.93345	0.6713	10	0.87932	D	0	-21.1778	14.6621	0.68879	1.0:0.0:0.0:0.0	.	60;107	F8W6Y4;Q96GE6	.;CALL4_HUMAN	R	60;31;107	ENSP00000400755:L60R;ENSP00000438177:L31R;ENSP00000419081:L107R	ENSP00000400755:L60R	L	-	2	0	CALML4	66277005	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	8.844000	0.92147	2.002000	0.58637	0.402000	0.26972	CTG		0.478	CALML4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257067.3	NM_033429		C	68489951	A	C	68489951	3	2	784	1	0	0	0	0	1	0	0	0	2590	188	7	5	278	5	CALML4	15	68489951	Missense_Mutation	SNP	A	TCGA-SX-A71S-01A-11D-A33Q-10	40032237	68489951	34041441	96	46511											
ADAMTS17	170691	hgsc.bcm.edu	37	15	100882071	100882071	+	Frame_Shift_Del	DEL	G	G	-			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr15:100882071delG	ENST00000268070.4	-	1	139	c.34delC	c.(34-36)ctgfs	p.L12fs	SPATA41_ENST00000560282.1_lincRNA	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	12						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)		AGCACGGGCAGGACGAGCGGA	0.741																																																0													23	23	23					15																	100882071		2092	4138	6230	SO:0001589	frameshift_variant	170691			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.34delC	chr15.hg19:g.100882071delG	ENSP00000268070:p.Leu12fs		Q2I7G4|Q6ZN75	Frame_Shift_Del	DEL	ENST00000268070.4	hg19	CCDS10383.1																																																																																				0.741	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057		-	100882071	G	-	100882071	7	5	784	1	0	1	0	1	0	0	0	0	262	991	35	0	3341	0	ADAMTS17	15	100882071	Frame_Shift_Del	DEL	G	TCGA-SX-A71S-01A-11D-A33Q-10	32392120	100882071	1649321	97	46512											
LINS1	55180	hgsc.bcm.edu	37	15	101120996	101120997	+	Frame_Shift_Ins	INS	-	-	A	rs141782332	byFrequency	TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr15:101120996_101120997insA	ENST00000314742.8	-	2	273_274	c.51_52insT	c.(49-54)cttggafs	p.G18fs	LINS_ENST00000560133.1_Intron|LINS_ENST00000559149.1_5'UTR|LINS_ENST00000561308.1_Frame_Shift_Ins_p.G18fs	NM_001040616.2	NP_001035706	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	18										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						AGTGTGGCTCCAAGAAGTACCT	0.371																																																0																																										SO:0001589	frameshift_variant	55180			AK095448	CCDS10385.1	15q26.3	2010-09-08	2010-09-08	2010-09-08	ENSG00000140471	ENSG00000140471			30922	protein-coding gene	gene with protein product		610350	"lines homolog 1 (Drosophila)"	LINS1		12119551, 8889548	Standard	NM_001040616		Approved	WINS1	uc002bwg.3	Q8NG48	OTTHUMG00000149865	ENST00000314742.8:c.52dupT	chr15.hg19:g.101120998_101120998dupA	ENSP00000318423:p.Gly18fs		Q96FW2|Q9NVQ3	Frame_Shift_Ins	INS	ENST00000314742.8	hg19	CCDS10385.1																																																																																				0.371	LINS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313592.1	NM_018148		A	101120997	-	A	101120996	7	5	784	1	0	1	1	0	0	0	0	0	8820	603	21	0	2245	0	LINS1	15	101120996	Frame_Shift_Ins	INS	-	TCGA-SX-A71S-01A-11D-A33Q-10	238925	101120996	1410396	98	46513											
DNAJA3	9093	hgsc.bcm.edu	37	16	4504895	4504895	+	Nonsense_Mutation	SNP	A	A	T			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr16:4504895A>T	ENST00000262375.6	+	11	1500	c.1423A>T	c.(1423-1425)Aag>Tag	p.K475*	DNAJA3_ENST00000355296.4_Intron|DNAJA3_ENST00000431375.2_Intron	NM_005147.5	NP_005138.3	Q96EY1	DNJA3_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 3	475					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation-induced cell death of T cells (GO:0006924)|cell aging (GO:0007569)|mitochondrial DNA replication (GO:0006264)|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 I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of programmed cell death (GO:0043069)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell proliferation (GO:0042102)|protein folding (GO:0006457)|protein stabilization (GO:0050821)|response to heat (GO:0009408)|response to interferon-gamma (GO:0034341)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|small GTPase mediated signal transduction (GO:0007264)|T cell differentiation in thymus (GO:0033077)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of plasma membrane (GO:0019897)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|interferon-gamma receptor binding (GO:0005133)|metal ion binding (GO:0046872)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|small GTPase regulator activity (GO:0005083)|transcription factor binding (GO:0008134)			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|upper_aerodigestive_tract(2)	15						TTCCAAACTTAAGAAAATGTT	0.502																																																0													78	75	76					16																	4504895		2197	4300	6497	SO:0001587	stop_gained	9093			AF061749	CCDS10515.1, CCDS45400.1, CCDS66930.1	16p13.3	2011-09-02			ENSG00000103423	ENSG00000103423		"Heat shock proteins / DNAJ (HSP40)"	11808	protein-coding gene	gene with protein product		608382		TID1		9683573	Standard	NM_005147		Approved	hTid-1	uc002cwk.3	Q96EY1	OTTHUMG00000129470	ENST00000262375.6:c.1423A>T	chr16.hg19:g.4504895A>T	ENSP00000262375:p.Lys475*		B2RAJ5|B4DI33|E7ES32|O75472|Q8WUJ6|Q8WXJ3|Q96D76|Q96IV1|Q9NYH8	Nonsense_Mutation	SNP	ENST00000262375.6	hg19	CCDS10515.1	.	.	.	.	.	.	.	.	.	.	A	38	7.066242	0.98040	.	.	ENSG00000103423	ENST00000262375	.	.	.	5.49	5.49	0.81192	.	0.152909	0.41938	D	0.000786	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.0755	14.7634	0.69621	1.0:0.0:0.0:0.0	.	.	.	.	X	475	.	ENSP00000262375:K475X	K	+	1	0	DNAJA3	4444896	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.482000	0.81143	2.085000	0.62840	0.482000	0.46254	AAG		0.502	DNAJA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251633.1			T	4504895	A	T	4504895	4	4	784	1	0	0	0	0	0	1	0	0	4615	363	13	5	1465	5	DNAJA3	16	4504895	Nonsense_Mutation	SNP	A	TCGA-SX-A71S-01A-11D-A33Q-10		4504895	85849858	99	46514											
ITGAX	3687	hgsc.bcm.edu	37	16	31391906	31391908	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	CTC	CTC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr16:31391906_31391908delCTC	ENST00000268296.4	+	28	3358_3360	c.3237_3239delCTC	c.(3235-3240)tactcc>tac	p.S1080del	ITGAX_ENST00000562522.1_In_Frame_Del_p.S1080del	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	1080					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						CATCCGTGTACTCCCAGCTTCCA	0.547																																																0																																										SO:0001651	inframe_deletion	3687			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.3237_3239delCTC	chr16.hg19:g.31391906_31391908delCTC	ENSP00000268296:p.Ser1080del		Q8IVA6	In_Frame_Del	DEL	ENST00000268296.4	hg19	CCDS10711.1																																																																																				0.547	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		-	31391908	CTC	-	31391906	7	5	784	1	0	1	0	1	0	0	0	0	7891	576	20	0	3347	0	ITGAX	16	31391906	In_Frame_Del	DEL	CTC	TCGA-SX-A71S-01A-11D-A33Q-10	26887011	31391906	58962847	100	46515											
NT5M	56953	hgsc.bcm.edu	37	17	17248204	17248204	+	Missense_Mutation	SNP	G	G	A			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr17:17248204G>A	ENST00000389022.4	+	4	742	c.526G>A	c.(526-528)Gac>Aac	p.D176N	NT5M_ENST00000582909.1_3'UTR	NM_020201.3	NP_064586.1	Q9NPB1	NT5M_HUMAN	5',3'-nucleotidase, mitochondrial	176					dephosphorylation (GO:0016311)|DNA replication (GO:0006260)|dUMP catabolic process (GO:0046079)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine deoxyribonucleotide catabolic process (GO:0009223)|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)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleotidase activity (GO:0008252)|nucleotide binding (GO:0000166)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						TCTCATAGACGACCGGCCGGA	0.602																																																0													122	102	109					17																	17248204		2203	4300	6503	SO:0001583	missense	56953			AF210652	CCDS32581.1	17p11.2	2007-08-01	2002-05-23		ENSG00000205309	ENSG00000205309	3.1.3.5		15769	protein-coding gene	gene with protein product		605292	"5' nucleotidase, mitochondrial"			10899995	Standard	XM_005256731		Approved	dNT-2, dNT2, mdN	uc002grf.3	Q9NPB1	OTTHUMG00000059277	ENST00000389022.4:c.526G>A	chr17.hg19:g.17248204G>A	ENSP00000373674:p.Asp176Asn			Missense_Mutation	SNP	ENST00000389022.4	hg19	CCDS32581.1	.	.	.	.	.	.	.	.	.	.	G	31	5.099176	0.94197	.	.	ENSG00000205309	ENST00000446264;ENST00000389022	D	0.82167	-1.58	5.78	4.81	0.61882	HAD-like domain (2);	0.000000	0.85682	D	0.000000	D	0.91402	0.7287	M	0.86268	2.805	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.92515	0.6020	10	0.72032	D	0.01	-42.4803	13.7786	0.63069	0.0746:0.0:0.9254:0.0	.	176;176;176	Q2I378;Q9NPB1;F6S3X3	.;NT5M_HUMAN;.	N	176	ENSP00000373674:D176N	ENSP00000373674:D176N	D	+	1	0	NT5M	17188929	1.000000	0.71417	0.958000	0.39756	0.960000	0.62799	8.533000	0.90617	1.434000	0.47414	0.655000	0.94253	GAC		0.602	NT5M-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446045.1			A	17248204	G	A	17248204	3	1	784	1	0	0	0	0	1	0	0	0	10696	1058	37	1	540	1	NT5M	17	17248204	Missense_Mutation	SNP	G	TCGA-SX-A71S-01A-11D-A33Q-10		17248204	63947006	101	46516											
FLII	2314	hgsc.bcm.edu	37	17	18160230	18160230	+	Missense_Mutation	SNP	T	T	C			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr17:18160230T>C	ENST00000327031.4	-	2	392	c.167A>G	c.(166-168)cAg>cGg	p.Q56R	FLII_ENST00000545457.2_Missense_Mutation_p.Q56R|FLII_ENST00000584444.1_5'UTR|FLII_ENST00000579294.1_Missense_Mutation_p.Q45R|FLII_ENST00000578558.1_Missense_Mutation_p.Q56R|FLII_ENST00000379450.4_Missense_Mutation_p.Q25R	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	56	Interaction with LRRFIP1 and LRRFIP2.				multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					TACCAGCTTCTGCAGGGCGGC	0.637																																																0													18	19	19					17																	18160230		2200	4299	6499	SO:0001583	missense	2314			U01184	CCDS11192.1, CCDS58521.1, CCDS58522.1	17p11.2	2008-07-18	2001-11-28		ENSG00000177731	ENSG00000177731			3750	protein-coding gene	gene with protein product		600362	"flightless I (Drosophila) homolog"			7825574	Standard	NM_002018		Approved	FLI, FLIL, Fli1, MGC39265	uc002gsr.2	Q13045	OTTHUMG00000059389	ENST00000327031.4:c.167A>G	chr17.hg19:g.18160230T>C	ENSP00000324573:p.Gln56Arg		B4DIL0|F5H407|J3QLG3	Missense_Mutation	SNP	ENST00000327031.4	hg19	CCDS11192.1	.	.	.	.	.	.	.	.	.	.	T	15.75	2.924494	0.52653	.	.	ENSG00000177731	ENST00000327031;ENST00000545457;ENST00000379450	T;T;T	0.36157	1.27;1.86;1.9	5.12	5.12	0.69794	.	0.054847	0.85682	D	0.000000	T	0.28134	0.0694	L	0.47716	1.5	0.58432	D	0.999999	B;B;P;B	0.42248	0.009;0.009;0.774;0.024	B;B;B;B	0.32928	0.013;0.013;0.155;0.042	T	0.07083	-1.0791	10	0.20519	T	0.43	-31.848	14.9182	0.70815	0.0:0.0:0.0:1.0	.	25;25;56;56	E7EPM0;B4DIL0;F5H407;Q13045	.;.;.;FLII_HUMAN	R	56;56;25	ENSP00000324573:Q56R;ENSP00000438536:Q56R;ENSP00000368763:Q25R	ENSP00000324573:Q56R	Q	-	2	0	FLII	18100955	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.887000	0.87295	1.924000	0.55735	0.418000	0.28097	CAG		0.637	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132032.2	NM_002018		C	18160230	T	C	18160230	3	2	784	1	0	0	0	0	1	0	0	0	5927	1580	55	3	3758	3	FLII	17	18160230	Missense_Mutation	SNP	T	TCGA-SX-A71S-01A-11D-A33Q-10	912026	18160230	63034980	102	46517											
FOXN1	8456	hgsc.bcm.edu	37	17	26861931	26861932	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	CC	CC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr17:26861931_26861932delCC	ENST00000226247.2	+	7	1371_1372	c.1342_1343delCC	c.(1342-1344)cccfs	p.P448fs	FOXN1_ENST00000579795.1_Frame_Shift_Del_p.P448fs	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	448					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)					GGGGCACACACCCTCCTGCTAT	0.649																																																0																																										SO:0001589	frameshift_variant	8456			Y11739	CCDS11232.1	17q11-q12	2014-09-17	2003-06-12	2003-06-13	ENSG00000109101	ENSG00000109101		"Forkhead boxes"	12765	protein-coding gene	gene with protein product		600838	"winged-helix nude", "Rowett nude"	WHN, RONU		9321431	Standard	NM_003593		Approved	FKHL20	uc002hbj.3	O15353	OTTHUMG00000132603	ENST00000226247.2:c.1342_1343delCC	chr17.hg19:g.26861931_26861932delCC	ENSP00000226247:p.Pro448fs		B2R9Q7|O15352	Frame_Shift_Del	DEL	ENST00000226247.2	hg19	CCDS11232.1																																																																																				0.649	FOXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255832.1			-	26861932	CC	-	26861931	7	5	784	1	0	1	0	1	0	0	0	0	6021	507	18	0	1368	0	FOXN1	17	26861931	Frame_Shift_Del	DEL	CC	TCGA-SX-A71S-01A-11D-A33Q-10	8701701	26861931	54333279	103	46518											
SLFN5	162394	hgsc.bcm.edu	37	17	33588032	33588032	+	Nonsense_Mutation	SNP	C	C	A			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr17:33588032C>A	ENST00000299977.4	+	3	1203	c.1055C>A	c.(1054-1056)tCa>tAa	p.S352*	SLFN5_ENST00000542451.1_Nonsense_Mutation_p.S352*	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	352					cell differentiation (GO:0030154)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		TTGAGTTTGTCATCTGCCACG	0.468																																																0													191	176	181					17																	33588032		2203	4300	6503	SO:0001587	stop_gained	162394			BX647942	CCDS32619.1	17q12	2006-04-05				ENSG00000166750			28286	protein-coding gene	gene with protein product		614952				9846487	Standard	NM_144975		Approved	MGC19764	uc002hjf.4	Q08AF3		ENST00000299977.4:c.1055C>A	chr17.hg19:g.33588032C>A	ENSP00000299977:p.Ser352*		Q08AF2|Q8WU54|Q96A82	Nonsense_Mutation	SNP	ENST00000299977.4	hg19	CCDS32619.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.898751	0.72639	.	.	ENSG00000166750	ENST00000299977;ENST00000542451	.	.	.	3.25	0.959	0.19624	.	1.010410	0.07984	N	0.986128	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.8337	0.05507	0.2761:0.563:0.0:0.1609	.	.	.	.	X	352	.	ENSP00000299977:S352X	S	+	2	0	SLFN5	30612145	0.000000	0.05858	0.087000	0.20705	0.209000	0.24338	-0.092000	0.11129	0.682000	0.31407	0.591000	0.81541	TCA		0.468	SLFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448649.2	NM_144975		A	33588032	C	A	33588032	4	1	784	1	0	0	0	0	0	1	0	0	14743	838	29	4	1061	4	SLFN5	17	33588032	Nonsense_Mutation	SNP	C	TCGA-SX-A71S-01A-11D-A33Q-10	6726101	33588032	47607178	104	46519											
PGAP3	93210	hgsc.bcm.edu	37	17	37829901	37829901	+	Missense_Mutation	SNP	G	G	T			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr17:37829901G>T	ENST00000300658.4	-	6	652	c.560C>A	c.(559-561)aCc>aAc	p.T187N	PGAP3_ENST00000579146.1_Intron|PGAP3_ENST00000429199.2_Missense_Mutation_p.T166N|PGAP3_ENST00000378011.4_Missense_Mutation_p.T136N	NM_033419.3	NP_219487.3	Q96FM1	PGAP3_HUMAN	post-GPI attachment to proteins 3	187					GPI anchor biosynthetic process (GO:0006506)|GPI anchor metabolic process (GO:0006505)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	hydrolase activity, acting on ester bonds (GO:0016788)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						CAGCCCCACGGTCCTGCCCCA	0.652																																																0													68	65	66					17																	37829901		2203	4300	6503	SO:0001583	missense	93210			AB088396	CCDS32641.1	17q21.2	2009-06-02	2009-06-02	2009-06-02		ENSG00000161395			23719	protein-coding gene	gene with protein product	"post-GPI attachment to proteins 3"	611801	"per1-like domain containing 1"	PERLD1		15010812, 17021251, 17314402	Standard	NM_001291728		Approved	MGC9753, CAB2, PP1498, PER1	uc002hsj.3	Q96FM1		ENST00000300658.4:c.560C>A	chr17.hg19:g.37829901G>T	ENSP00000300658:p.Thr187Asn		B4DGK7|Q86Z03|Q8NBJ8	Missense_Mutation	SNP	ENST00000300658.4	hg19	CCDS32641.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.389718	0.61956	.	.	ENSG00000161395	ENST00000300658;ENST00000378011;ENST00000309862;ENST00000429199	.	.	.	4.65	3.67	0.42095	.	0.224770	0.45126	D	0.000394	T	0.58206	0.2106	L	0.54323	1.7	0.80722	D	1	P;P;P	0.46706	0.841;0.883;0.841	P;P;P	0.50136	0.632;0.576;0.632	T	0.54682	-0.8257	9	0.27082	T	0.32	-14.3119	11.0755	0.48030	0.0932:0.0:0.9068:0.0	.	166;136;187	B4DGK7;Q96FM1-2;Q96FM1	.;.;PGAP3_HUMAN	N	187;136;131;166	.	ENSP00000300658:T187N	T	-	2	0	PGAP3	35083427	1.000000	0.71417	0.999000	0.59377	0.754000	0.42855	7.571000	0.82399	2.113000	0.64589	0.655000	0.94253	ACC		0.652	PGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444825.2	NM_033419		T	37829901	G	T	37829901	3	4	784	1	0	0	0	0	1	0	0	0	11781	1261	44	4	414	4	PGAP3	17	37829901	Missense_Mutation	SNP	G	TCGA-SX-A71S-01A-11D-A33Q-10	4241869	37829901	43365309	105	46520											
GSDMA	284110	hgsc.bcm.edu	37	17	38122087	38122087	+	Missense_Mutation	SNP	G	G	T			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr17:38122087G>T	ENST00000301659.4	+	2	265	c.147G>T	c.(145-147)tgG>tgT	p.W49C		NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A	49					apoptotic process (GO:0006915)	perinuclear region of cytoplasm (GO:0048471)				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						CGCTCTTCTGGGGGGCCCGGT	0.622																																																0													32	37	35					17																	38122087		1984	4138	6122	SO:0001583	missense	284110			AB093591	CCDS45669.1	17q21.2	2008-07-31	2008-07-31	2008-07-31		ENSG00000167914			13311	protein-coding gene	gene with protein product		611218	"gasdermin", "gasdermin 1"	GSDM, GSDM1		12883658, 15010812, 17350798	Standard	NM_178171		Approved	FLJ39120	uc002htl.1	Q96QA5		ENST00000301659.4:c.147G>T	chr17.hg19:g.38122087G>T	ENSP00000301659:p.Trp49Cys		Q32MC5|Q86VE7|Q8N1M6	Missense_Mutation	SNP	ENST00000301659.4	hg19	CCDS45669.1	.	.	.	.	.	.	.	.	.	.	G	10.68	1.418683	0.25552	.	.	ENSG00000167914	ENST00000301659	T	0.41758	0.99	5.51	4.54	0.55810	.	0.338661	0.26176	N	0.025884	T	0.65668	0.2713	M	0.85630	2.765	0.52099	D	0.999946	D	0.89917	1.0	D	0.91635	0.999	T	0.70051	-0.4978	10	0.87932	D	0	-3.0E-4	10.2534	0.43383	0.0914:0.0:0.9086:0.0	.	49	Q96QA5	GSDMA_HUMAN	C	49	ENSP00000301659:W49C	ENSP00000301659:W49C	W	+	3	0	GSDMA	35375613	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	3.268000	0.51585	1.337000	0.45525	0.462000	0.41574	TGG		0.622	GSDMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446847.1	NM_178171		T	38122087	G	T	38122087	3	4	784	1	0	0	0	0	1	0	0	0	6818	1241	43	4	149	4	GSDMA	17	38122087	Missense_Mutation	SNP	G	TCGA-SX-A71S-01A-11D-A33Q-10	292186	38122087	43073123	106	46521											
ACLY	47	hgsc.bcm.edu	37	17	40049362	40049362	+	Missense_Mutation	SNP	C	C	T			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr17:40049362C>T	ENST00000352035.2	-	15	1655	c.1525G>A	c.(1525-1527)Gtg>Atg	p.V509M	ACLY_ENST00000393896.2_Missense_Mutation_p.V499M|ACLY_ENST00000590151.1_Missense_Mutation_p.V509M|ACLY_ENST00000537919.1_Missense_Mutation_p.V238M|ACLY_ENST00000353196.1_Missense_Mutation_p.V499M	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	509					ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				ATGCCTTGCACGGCCCGGGTC	0.592																																					Colon(64;807 1396 15971 30971)											0													105	99	101					17																	40049362		2203	4300	6503	SO:0001583	missense	47			X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"ATP citrate synthase"	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.1525G>A	chr17.hg19:g.40049362C>T	ENSP00000253792:p.Val509Met		B4DIM0|B4E3P0|Q13037|Q9BRL0	Missense_Mutation	SNP	ENST00000352035.2	hg19	CCDS11412.1	.	.	.	.	.	.	.	.	.	.	C	34	5.389813	0.95988	.	.	ENSG00000131473	ENST00000352035;ENST00000401700;ENST00000353196;ENST00000537919;ENST00000393896	D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64	5.88	5.88	0.94601	CoA-binding (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.93726	0.7995	M	0.92367	3.3	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;0.995;0.994	D	0.94345	0.7574	10	0.87932	D	0	.	20.2228	0.98330	0.0:1.0:0.0:0.0	.	238;553;563;499;509	B4E3P0;B4DIM0;E7ENH9;G3XAI4;P53396	.;.;.;.;ACLY_HUMAN	M	509;563;499;238;499	ENSP00000253792:V509M;ENSP00000345398:V499M;ENSP00000445349:V238M;ENSP00000377474:V499M	ENSP00000253792:V509M	V	-	1	0	ACLY	37302888	1.000000	0.71417	0.989000	0.46669	0.997000	0.91878	7.610000	0.82949	2.789000	0.95967	0.655000	0.94253	GTG		0.592	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1	NM_001096		T	40049362	C	T	40049362	3	4	784	1	0	0	0	0	1	0	0	0	143	536	19	1	1840	1	ACLY	17	40049362	Missense_Mutation	SNP	C	TCGA-SX-A71S-01A-11D-A33Q-10	1927275	40049362	41145848	107	46522											
BRCA1	672	hgsc.bcm.edu	37	17	41243848	41243848	+	Frame_Shift_Del	DEL	C	C	-	rs80357873|rs80357609		TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr17:41243848delC	ENST00000357654.3	-	10	3818	c.3700delG	c.(3700-3702)gtafs	p.V1234fs	BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000346315.3_Frame_Shift_Del_p.V1234fs|BRCA1_ENST00000309486.4_Frame_Shift_Del_p.V938fs|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000493795.1_Frame_Shift_Del_p.V1187fs|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000354071.3_Frame_Shift_Del_p.V1234fs|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000471181.2_Frame_Shift_Del_p.V1234fs|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000468300.1_Intron	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1234					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		ATATTGTTTACTTTACCAAAT	0.413			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	0													98	94	96					17																	41243848		2203	4300	6503	SO:0001589	frameshift_variant	672	Familial Cancer Database		U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1100	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 1", "protein phosphatase 1, regulatory subunit 53"	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.3700delG	chr17.hg19:g.41243848delC	ENSP00000350283:p.Val1234fs		O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Frame_Shift_Del	DEL	ENST00000357654.3	hg19	CCDS11453.1																																																																																				0.413	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		-	41243848	C	-	41243848	7	5	784	1	0	1	0	1	0	0	0	0	1500	565	20	0	2017	0	BRCA1	17	41243848	Frame_Shift_Del	DEL	C	TCGA-SX-A71S-01A-11D-A33Q-10	1194486	41243848	39951362	108	46523											
INTS2	57508	hgsc.bcm.edu	37	17	59952339	59952339	+	Silent	SNP	C	C	T			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr17:59952339C>T	ENST00000444766.3	-	19	2616	c.2541G>A	c.(2539-2541)aaG>aaA	p.K847K	INTS2_ENST00000251334.6_Silent_p.K839K|Y_RNA_ENST00000365491.1_RNA	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	847					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|intracellular (GO:0005622)|membrane (GO:0016020)				NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						TCTGAGTATACTTTTGTTGTC	0.348																																																0													57	55	56					17																	59952339		1869	4102	5971	SO:0001819	synonymous_variant	57508			AB033113	CCDS45750.1	17q23.2	2006-04-26	2006-03-15	2006-03-15		ENSG00000108506			29241	protein-coding gene	gene with protein product		611346	"KIAA1287"	KIAA1287		16239144	Standard	NR_026641		Approved	INT2	uc002izn.3	Q9H0H0		ENST00000444766.3:c.2541G>A	chr17.hg19:g.59952339C>T			Q9ULD3	Silent	SNP	ENST00000444766.3	hg19	CCDS45750.1																																																																																				0.348	INTS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000445368.1	NM_020748		T	59952339	C	T	59952339	2	4	784	1	0	0	0	0	0	0	0	1	7780	564	20	2		2	INTS2	17	59952339	Silent	SNP	C	TCGA-SX-A71S-01A-11D-A33Q-10	18708491	59952339	21242871	109	46524											
TBC1D16	125058	hgsc.bcm.edu	37	17	77923648	77923648	+	Missense_Mutation	SNP	C	C	T			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr17:77923648C>T	ENST00000310924.2	-	7	1389	c.1274G>A	c.(1273-1275)gGt>gAt	p.G425D	TBC1D16_ENST00000340848.7_Missense_Mutation_p.G63D|TBC1D16_ENST00000570373.1_Missense_Mutation_p.G64D|TBC1D16_ENST00000572862.1_Missense_Mutation_p.G63D|TBC1D16_ENST00000576768.1_Intron	NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	425	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			CACATCAATACCGCCAAAGAA	0.577																																					Ovarian(14;397 562 4850 31922 49378)											0													27	31	30					17																	77923648		2202	4300	6502	SO:0001583	missense	125058			AL157485	CCDS11766.1, CCDS62351.1, CCDS62352.1, CCDS62353.1	17q25.3	2013-07-10				ENSG00000167291			28356	protein-coding gene	gene with protein product						23019362	Standard	NM_019020		Approved	MGC25062, FLJ20748	uc002jxj.4	Q8TBP0		ENST00000310924.2:c.1274G>A	chr17.hg19:g.77923648C>T	ENSP00000309794:p.Gly425Asp		B9A6L7|I3L1E0|I3L4U2|Q8N3Z4|Q96DH7	Missense_Mutation	SNP	ENST00000310924.2	hg19	CCDS11766.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.767431	0.90020	.	.	ENSG00000167291	ENST00000340848;ENST00000310924	T;T	0.11385	2.78;2.78	4.79	4.79	0.61399	Rab-GAP/TBC domain (3);	0.231325	0.44688	D	0.000440	T	0.50034	0.1592	H	0.97564	4.03	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.999	D;D;D	0.77004	0.989;0.964;0.972	T	0.71441	-0.4592	10	0.87932	D	0	-39.6362	17.8354	0.88694	0.0:1.0:0.0:0.0	.	85;425;63	Q96DH7;Q8TBP0;Q8N3Z4	.;TBC16_HUMAN;.	D	63;425	ENSP00000341517:G63D;ENSP00000309794:G425D	ENSP00000309794:G425D	G	-	2	0	TBC1D16	75538243	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.649000	0.83500	2.192000	0.70111	0.585000	0.79938	GGT		0.577	TBC1D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437145.1	NM_019020		T	77923648	C	T	77923648	3	4	784	1	0	0	0	0	1	0	0	0	15610	507	18	2	1053	2	TBC1D16	17	77923648	Missense_Mutation	SNP	C	TCGA-SX-A71S-01A-11D-A33Q-10	17971309	77923648	3271562	110	46525											
TNFRSF11A	8792	hgsc.bcm.edu	37	18	60052147	60052147	+	Silent	SNP	C	C	T			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr18:60052147C>T	ENST00000586569.1	+	10	1769	c.1731C>T	c.(1729-1731)cgC>cgT	p.R577R	TNFRSF11A_ENST00000269485.7_Silent_p.R260R	NM_001270949.1|NM_003839.3	NP_001257878.1|NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	577					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)				CCCTGGCGCGCCGAGACTCCT	0.761																																																0													7	8	8					18																	60052147		2099	3994	6093	SO:0001819	synonymous_variant	8792			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.1731C>T	chr18.hg19:g.60052147C>T			I4EC36|I4EC38|I4EC39|I7JE63|N0GVH0|Q59EP9	Silent	SNP	ENST00000586569.1	hg19	CCDS11980.1																																																																																				0.761	TNFRSF11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256186.2			T	60052147	C	T	60052147	2	4	784	1	0	0	0	0	0	0	0	1	16289	726	26	2		2	TNFRSF11A	18	60052147	Silent	SNP	C	TCGA-SX-A71S-01A-11D-A33Q-10		60052147	18025101	111	46526											
CHAF1A	10036	hgsc.bcm.edu	37	19	4433229	4433229	+	Missense_Mutation	SNP	A	A	T			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr19:4433229A>T	ENST00000301280.5	+	13	2467	c.2366A>T	c.(2365-2367)gAt>gTt	p.D789V	CTB-50L17.5_ENST00000590159.1_RNA|CHAF1A_ENST00000587368.1_3'UTR	NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	789	Binds to p60.				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)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCAGCGAGGATGCCGCCATC	0.652								Chromatin Structure																																								0													69	71	70					19																	4433229		2203	4300	6503	SO:0001583	missense	10036			U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"chromatin assembly factor I (150 kDa)"	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.2366A>T	chr19.hg19:g.4433229A>T	ENSP00000301280:p.Asp789Val		Q6NXG5|Q7Z7K3|Q9UJY8	Missense_Mutation	SNP	ENST00000301280.5	hg19	CCDS32875.1	.	.	.	.	.	.	.	.	.	.	A	9.618	1.132969	0.21041	.	.	ENSG00000167670	ENST00000301280	T	0.26373	1.74	5.65	4.61	0.57282	.	.	.	.	.	T	0.21022	0.0506	L	0.47716	1.5	0.58432	D	0.99999	P	0.40398	0.716	B	0.34873	0.191	T	0.01925	-1.1246	8	.	.	.	-21.8765	11.8638	0.52482	0.8154:0.1846:0.0:0.0	.	789	Q13111	CAF1A_HUMAN	V	789	ENSP00000301280:D789V	.	D	+	2	0	CHAF1A	4384229	1.000000	0.71417	0.039000	0.18376	0.005000	0.04900	3.819000	0.55686	0.966000	0.38159	0.533000	0.62120	GAT		0.652	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458310.2	NM_005483		T	4433229	A	T	4433229	3	4	784	1	0	0	0	0	1	0	0	0	3313	333	12	5	2416	5	CHAF1A	19	4433229	Missense_Mutation	SNP	A	TCGA-SX-A71S-01A-11D-A33Q-10		4433229	54695754	112	46527											
ZNF491	126069	hgsc.bcm.edu	37	19	11917180	11917180	+	Frame_Shift_Del	DEL	A	A	-			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr19:11917180delA	ENST00000323169.5	+	3	743	c.412delA	c.(412-414)aaafs	p.K138fs	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	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)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						GTTTTGTGGGAAAGCCTTGGA	0.388																																																0													99	99	99					19																	11917180		2203	4300	6503	SO:0001589	frameshift_variant	126069			AK092110	CCDS12267.1	19p13.2	2013-01-08			ENSG00000177599	ENSG00000177599		"Zinc fingers, C2H2-type"	23706	protein-coding gene	gene with protein product							Standard	XM_005259730		Approved	FLJ34791	uc002mso.1	Q8N8L2	OTTHUMG00000156529	ENST00000323169.5:c.412delA	chr19.hg19:g.11917180delA	ENSP00000313443:p.Lys138fs		Q3MJ35|Q8NAT8	Frame_Shift_Del	DEL	ENST00000323169.5	hg19	CCDS12267.1																																																																																				0.388	ZNF491-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344518.1	NM_152356		-	11917180	A	-	11917180	7	5	784	1	0	1	0	1	0	0	0	0	17947	247	9	0	414	0	ZNF491	19	11917180	Frame_Shift_Del	DEL	A	TCGA-SX-A71S-01A-11D-A33Q-10	7483951	11917180	47211803	113	46528											
FARSA	2193	hgsc.bcm.edu	37	19	13035292	13035292	+	Missense_Mutation	SNP	G	G	A			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr19:13035292G>A	ENST00000314606.4	-	11	1262	c.1244C>T	c.(1243-1245)cCc>cTc	p.P415L	FARSA_ENST00000588025.1_Missense_Mutation_p.P455L|FARSA_ENST00000423140.2_Missense_Mutation_p.P384L	NM_004461.2	NP_004452.1	Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	415					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	CTCCATGCTGGGCTCTGTGTA	0.607																																																0													105	86	93					19																	13035292		2203	4300	6503	SO:0001583	missense	2193			U07424	CCDS12287.1	19p13.2	2014-05-06	2007-02-23	2007-02-23	ENSG00000179115	ENSG00000179115	6.1.1.20	"Aminoacyl tRNA synthetases / Class II"	3592	protein-coding gene	gene with protein product	"phenylalanine tRNA ligase 1, alpha, cytoplasmic"	602918	"phenylalanine-tRNA synthetase-like", "phenylalanyl-tRNA synthetase-like, alpha subunit"	FARSL, FARSLA		9177188	Standard	NM_004461		Approved	CML33	uc002mvs.2	Q9Y285	OTTHUMG00000180569	ENST00000314606.4:c.1244C>T	chr19.hg19:g.13035292G>A	ENSP00000320309:p.Pro415Leu		B4E363|Q9NSD8|Q9Y4W8	Missense_Mutation	SNP	ENST00000314606.4	hg19	CCDS12287.1	.	.	.	.	.	.	.	.	.	.	G	31	5.075764	0.94000	.	.	ENSG00000179115	ENST00000314606;ENST00000423140	D;D	0.81739	-1.53;-1.53	5.11	5.11	0.69529	Aminoacyl-tRNA synthetase, class II (1);Phenylalanyl-tRNA synthetase (1);	0.000000	0.85682	D	0.000000	D	0.92873	0.7733	H	0.95437	3.67	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.94955	0.8103	10	0.87932	D	0	-16.8972	17.3314	0.87265	0.0:0.0:1.0:0.0	.	384;415;415	B4E363;Q6IBR2;Q9Y285	.;.;SYFA_HUMAN	L	415;384	ENSP00000320309:P415L;ENSP00000396548:P384L	ENSP00000320309:P415L	P	-	2	0	FARSA	12896292	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.200000	0.95010	2.388000	0.81334	0.561000	0.74099	CCC		0.607	FARSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451935.1	NM_004461		A	13035292	G	A	13035292	3	1	784	1	0	0	0	0	1	0	0	0	5681	1232	43	2	294	2	FARSA	19	13035292	Missense_Mutation	SNP	G	TCGA-SX-A71S-01A-11D-A33Q-10	1118112	13035292	46093691	114	46529			1	127		2	2	15	G		5.743339e-05
FARSA	2193	hgsc.bcm.edu	37	19	13035306	13035306	+	Missense_Mutation	SNP	G	G	T			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr19:13035306G>T	ENST00000314606.4	-	11	1248	c.1230C>A	c.(1228-1230)aaC>aaA	p.N410K	FARSA_ENST00000588025.1_Missense_Mutation_p.N450K|FARSA_ENST00000423140.2_Missense_Mutation_p.N379K	NM_004461.2	NP_004452.1	Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	410					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	CTGTGTATGGGTTGTAGGCTG	0.587																																																0													109	89	96					19																	13035306		2203	4300	6503	SO:0001583	missense	2193			U07424	CCDS12287.1	19p13.2	2014-05-06	2007-02-23	2007-02-23	ENSG00000179115	ENSG00000179115	6.1.1.20	"Aminoacyl tRNA synthetases / Class II"	3592	protein-coding gene	gene with protein product	"phenylalanine tRNA ligase 1, alpha, cytoplasmic"	602918	"phenylalanine-tRNA synthetase-like", "phenylalanyl-tRNA synthetase-like, alpha subunit"	FARSL, FARSLA		9177188	Standard	NM_004461		Approved	CML33	uc002mvs.2	Q9Y285	OTTHUMG00000180569	ENST00000314606.4:c.1230C>A	chr19.hg19:g.13035306G>T	ENSP00000320309:p.Asn410Lys		B4E363|Q9NSD8|Q9Y4W8	Missense_Mutation	SNP	ENST00000314606.4	hg19	CCDS12287.1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.750860	0.69533	.	.	ENSG00000179115	ENST00000314606;ENST00000423140	T;T	0.63744	-0.06;-0.06	5.11	2.94	0.34122	Aminoacyl-tRNA synthetase, class II (1);Phenylalanyl-tRNA synthetase (1);	0.000000	0.85682	D	0.000000	D	0.83613	0.5292	H	0.97103	3.94	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	0.86119	0.1567	10	0.87932	D	0	-22.818	9.606	0.39634	0.2346:0.0:0.7654:0.0	.	379;410;410	B4E363;Q6IBR2;Q9Y285	.;.;SYFA_HUMAN	K	410;379	ENSP00000320309:N410K;ENSP00000396548:N379K	ENSP00000320309:N410K	N	-	3	2	FARSA	12896306	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.984000	0.40658	1.162000	0.42619	0.561000	0.74099	AAC		0.587	FARSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451935.1	NM_004461		T	13035306	G	T	13035306	3	4	784	1	0	0	0	0	1	0	0	0	5681	1252	44	4	308	4	FARSA	19	13035306	Missense_Mutation	SNP	G	TCGA-SX-A71S-01A-11D-A33Q-10	14	13035306	46093677	115	46530			1	127		2	2	15	G		5.743339e-05
ZNF552	79818	hgsc.bcm.edu	37	19	58319468	58319468	+	Missense_Mutation	SNP	T	T	A			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr19:58319468T>A	ENST00000391701.1	-	3	1333	c.1164A>T	c.(1162-1164)aaA>aaT	p.K388N	ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598885.1_Intron	NM_024762.3	NP_079038.2	Q9H707	ZN552_HUMAN	zinc finger protein 552	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)			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11		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;0.0259)		TTTGCCTAAATTTTTTTTCAC	0.413																																																0													147	143	144					19																	58319468		2203	4300	6503	SO:0001583	missense	79818			AK097041	CCDS12963.1	19q13.43	2013-09-20			ENSG00000178935	ENSG00000178935		"Zinc fingers, C2H2-type", "-"	26135	protein-coding gene	gene with protein product							Standard	XM_005259267		Approved	FLJ21603	uc002qqg.3	Q9H707	OTTHUMG00000183478	ENST00000391701.1:c.1164A>T	chr19.hg19:g.58319468T>A	ENSP00000375582:p.Lys388Asn		B3KUE9|Q6P5A6	Missense_Mutation	SNP	ENST00000391701.1	hg19	CCDS12963.1	.	.	.	.	.	.	.	.	.	.	T	7.935	0.741520	0.15642	.	.	ENSG00000178935	ENST00000391701	T	0.20200	2.09	1.96	-3.92	0.04155	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08088	0.0202	N	0.11427	0.14	0.09310	N	1	B;B	0.28820	0.224;0.124	B;B	0.26094	0.066;0.026	T	0.16100	-1.0414	9	0.51188	T	0.08	.	0.9994	0.01474	0.473:0.1394:0.1527:0.2349	.	384;388	B7Z1H1;Q9H707	.;ZN552_HUMAN	N	388	ENSP00000375582:K388N	ENSP00000375582:K388N	K	-	3	2	ZNF552	63011280	0.000000	0.05858	0.000000	0.03702	0.322000	0.28314	-4.686000	0.00198	-2.729000	0.00385	-1.256000	0.01477	AAA		0.413	ZNF552-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466829.1	NM_024762		A	58319468	T	A	58319468	3	1	784	1	0	0	0	0	1	0	0	0	17989	1490	52	5	63	5	ZNF552	19	58319468	Missense_Mutation	SNP	T	TCGA-SX-A71S-01A-11D-A33Q-10	45284162	58319468	809515	116	46531											
LPIN3	64900	hgsc.bcm.edu	37	20	39978760	39978760	+	Silent	SNP	T	T	C			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr20:39978760T>C	ENST00000373257.3	+	7	916	c.825T>C	c.(823-825)ccT>ccC	p.P275P		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	275					fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|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)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				CAACCTCTCCTCCTCGGGGAG	0.622																																																0													29	22	24					20																	39978760		2202	4299	6501	SO:0001819	synonymous_variant	64900			AL132654	CCDS33469.1	20q11.2-q12	2006-04-04	2002-05-23		ENSG00000132793	ENSG00000132793			14451	protein-coding gene	gene with protein product		605520	"lipin 3-like"	LIPN3L		11138012	Standard	XM_005260515		Approved	SMP2	uc002xjx.3	Q9BQK8	OTTHUMG00000033056	ENST00000373257.3:c.825T>C	chr20.hg19:g.39978760T>C			B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Silent	SNP	ENST00000373257.3	hg19	CCDS33469.1																																																																																				0.622	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080393.1	NM_022896		C	39978760	T	C	39978760	2	2	784	1	0	0	0	0	0	0	0	1	8922	1538	54	3		3	LPIN3	20	39978760	Silent	SNP	T	TCGA-SX-A71S-01A-11D-A33Q-10		39978760	23046760	117	46532											
PREX1	57580	hgsc.bcm.edu	37	20	47261019	47261023	+	Frame_Shift_Del	DEL	GATTG	GATTG	-			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	GATTG	GATTG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr20:47261019_47261023delGATTG	ENST00000371941.3	-	27	3547_3551	c.3525_3529delCAATC	c.(3523-3531)agcaatcgafs	p.SN1175fs	PREX1_ENST00000396220.1_Frame_Shift_Del_p.SN1175fs|PREX1_ENST00000496915.1_5'Flank	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1175					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)			ACCGAGTCTCGATTGCTGTTACACT	0.585																																																0																																										SO:0001589	frameshift_variant	57580			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.3525_3529delCAATC	chr20.hg19:g.47261019_47261023delGATTG	ENSP00000361009:p.Ser1175fs		E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Frame_Shift_Del	DEL	ENST00000371941.3	hg19	CCDS13410.1																																																																																				0.585	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		-	47261023	GATTG	-	47261019	7	5	784	1	0	1	0	1	0	0	0	0	12481	1066	37	0	1506	0	PREX1	20	47261019	Frame_Shift_Del	DEL	GATTG	TCGA-SX-A71S-01A-11D-A33Q-10	7282259	47261019	15764501	118	46533	501	2									
PREX1	57580	hgsc.bcm.edu	37	20	47261025	47261033	+	In_Frame_Del	DEL	TGTTACACT	TGTTACACT	-			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	TGTTACACT	TGTTACACT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr20:47261025_47261033delTGTTACACT	ENST00000371941.3	-	27	3537_3545	c.3515_3523delAGTGTAACA	c.(3514-3525)gagtgtaacagc>ggc	p.1172_1175ECNS>G	PREX1_ENST00000396220.1_In_Frame_Del_p.1172_1175ECNS>G|PREX1_ENST00000496915.1_5'Flank	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1172					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)			TCTCGATTGCTGTTACACTCGCTGCAAAG	0.579																																																0																																										SO:0001651	inframe_deletion	57580			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.3515_3523delAGTGTAACA	chr20.hg19:g.47261025_47261033delTGTTACACT	ENSP00000361009:p.Glu1172_Ser1175delinsGly		E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	In_Frame_Del	DEL	ENST00000371941.3	hg19	CCDS13410.1																																																																																				0.579	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		-	47261033	TGTTACACT	-	47261025	7	5	784	1	0	1	0	1	0	0	0	0	12481	1580	55	0	1512	0	PREX1	20	47261025	In_Frame_Del	DEL	TGTTACACT	TCGA-SX-A71S-01A-11D-A33Q-10	6	47261025	15764495	119	46534	501	2									
COL20A1	57642	hgsc.bcm.edu	37	20	61940011	61940011	+	Missense_Mutation	SNP	C	C	T			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr20:61940011C>T	ENST00000358894.6	+	8	993	c.893C>T	c.(892-894)aCt>aTt	p.T298I	COL20A1_ENST00000422202.1_Missense_Mutation_p.T305I|COL20A1_ENST00000326996.6_Missense_Mutation_p.T298I|COL20A1_ENST00000435874.1_Missense_Mutation_p.T305I	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	298	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				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)					GATGTGCACACTGCTGCCCGT	0.667																																																0													26	32	30					20																	61940011		2120	4220	6340	SO:0001583	missense	57642			BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"Collagens", "Fibronectin type III domain containing"	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.893C>T	chr20.hg19:g.61940011C>T	ENSP00000351767:p.Thr298Ile		Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Missense_Mutation	SNP	ENST00000358894.6	hg19	CCDS46628.1	.	.	.	.	.	.	.	.	.	.	C	8.261	0.811242	0.16537	.	.	ENSG00000101203	ENST00000358894;ENST00000326996;ENST00000435874;ENST00000422202	D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73	4.07	3.1	0.35709	von Willebrand factor, type A (3);	0.727564	0.12360	N	0.475743	T	0.75975	0.3923	L	0.35793	1.09	0.09310	N	1	P;P	0.36027	0.478;0.533	B;B	0.37451	0.174;0.25	T	0.66862	-0.5816	10	0.42905	T	0.14	.	10.6662	0.45732	0.0:0.8393:0.0:0.1607	.	305;298	Q9P218-2;Q9P218	.;COKA1_HUMAN	I	298;298;305;305	ENSP00000351767:T298I;ENSP00000323077:T298I;ENSP00000408690:T305I;ENSP00000414753:T305I	ENSP00000323077:T298I	T	+	2	0	COL20A1	61410456	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	0.134000	0.15932	1.982000	0.57802	0.467000	0.42956	ACT		0.667	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882		T	61940011	C	T	61940011	3	4	784	1	0	0	0	0	1	0	0	0	3681	565	20	2	919	2	COL20A1	20	61940011	Missense_Mutation	SNP	C	TCGA-SX-A71S-01A-11D-A33Q-10	14678986	61940011	1085509	120	46535											
USP25	29761	hgsc.bcm.edu	37	21	17172133	17172133	+	Missense_Mutation	SNP	A	A	G			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr21:17172133A>G	ENST00000285679.6	+	6	982	c.613A>G	c.(613-615)Aat>Gat	p.N205D	USP25_ENST00000285681.2_Missense_Mutation_p.N205D|USP25_ENST00000547201.1_3'UTR|USP25_ENST00000351097.5_Missense_Mutation_p.N205D|USP25_ENST00000400183.2_Missense_Mutation_p.N205D	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	205	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)		GCCTCCATCAAATGCTCAAGA	0.289																																																0													80	80	80					21																	17172133		2203	4294	6497	SO:0001583	missense	29761			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.613A>G	chr21.hg19:g.17172133A>G	ENSP00000285679:p.Asn205Asp		C0LSZ0|Q6DHZ9|Q9H9W1	Missense_Mutation	SNP	ENST00000285679.6	hg19	CCDS33515.1	.	.	.	.	.	.	.	.	.	.	A	12.64	1.999424	0.35320	.	.	ENSG00000155313	ENST00000285681;ENST00000285679;ENST00000351097;ENST00000400183	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	5.03	2.6	0.31112	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.221075	0.44688	D	0.000432	T	0.14787	0.0357	N	0.10916	0.065	0.25753	N	0.985036	P;B;B;B	0.35139	0.486;0.08;0.222;0.009	B;B;B;B	0.32624	0.149;0.018;0.096;0.016	T	0.17592	-1.0364	10	0.18710	T	0.47	.	12.1748	0.54180	0.7294:0.2706:0.0:0.0	.	205;205;205;205	Q9UHP3-3;Q96B65;Q9UHP3-1;Q9UHP3	.;.;.;UBP25_HUMAN	D	205	ENSP00000285681:N205D;ENSP00000285679:N205D;ENSP00000299574:N205D;ENSP00000383044:N205D	ENSP00000285679:N205D	N	+	1	0	USP25	16094004	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.993000	0.40747	0.324000	0.23333	0.528000	0.53228	AAT		0.289	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157964.1			G	17172133	A	G	17172133	3	3	784	1	0	0	0	0	1	0	0	0	17061	14	1	3	635	3	USP25	21	17172133	Missense_Mutation	SNP	A	TCGA-SX-A71S-01A-11D-A33Q-10		17172133	30957762	121	46536											
BACH1	571	hgsc.bcm.edu	37	21	30715024	30715024	+	Missense_Mutation	SNP	G	G	A	rs377002114		TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr21:30715024G>A	ENST00000399921.1	+	5	2324	c.2081G>A	c.(2080-2082)cGa>cAa	p.R694Q	BACH1_ENST00000286800.3_Missense_Mutation_p.R694Q	NM_206866.1	NP_996749.1	Q9BX63	FANCJ_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	0					DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						GGCTACGCGCGAGGGCAGGAG	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		18154	0.001		0.0	False		,,,				2504	0.0															0								G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	49	51	50		2081,2081	-10.2	0	21		50	1,8599		0,1,4299	no	missense,missense	BACH1	NM_001186.2,NM_206866.1	43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	694/737,694/737	30715024	1,13005	2203	4300	6503	SO:0001583	missense	571			AF026200	CCDS13585.1	21q22.1	2013-01-10			ENSG00000156273	ENSG00000156273		"BTB/POZ domain containing", "basic leucine zipper proteins"	935	protein-coding gene	gene with protein product		602751				9544839, 9479503	Standard	NR_027655		Approved	BACH-1, BTBD24	uc002ynj.3	O14867	OTTHUMG00000078878	ENST00000399921.1:c.2081G>A	chr21.hg19:g.30715024G>A	ENSP00000382805:p.Arg694Gln		Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000399921.1	hg19	CCDS13585.1	.	.	.	.	.	.	.	.	.	.	G	5.245	0.230686	0.09969	0.0	1.16E-4	ENSG00000156273	ENST00000286800;ENST00000399921	T;T	0.70399	-0.48;-0.48	5.18	-10.2	0.00374	.	1.645150	0.03069	N	0.156896	T	0.37812	0.1017	N	0.11427	0.14	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.37197	-0.9716	10	0.10902	T	0.67	5.0905	0.5012	0.00580	0.3585:0.218:0.1401:0.2834	.	694	O14867	BACH1_HUMAN	Q	694	ENSP00000286800:R694Q;ENSP00000382805:R694Q	ENSP00000286800:R694Q	R	+	2	0	BACH1	29636895	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.738000	0.01842	-2.180000	0.00766	-0.355000	0.07637	CGA		0.577	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171974.1	NM_206866		A	30715024	G	A	30715024	3	1	784	1	0	0	0	0	1	0	0	0	1283	1058	37	1	2095	1	BACH1	21	30715024	Missense_Mutation	SNP	G	TCGA-SX-A71S-01A-11D-A33Q-10	13542891	30715024	17414871	122	46537											
SIM2	6493	hgsc.bcm.edu	37	21	38084911	38084911	+	Missense_Mutation	SNP	G	G	T			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr21:38084911G>T	ENST00000290399.6	+	3	950	c.337G>T	c.(337-339)Ggc>Tgc	p.G113C	SIM2_ENST00000430056.3_Missense_Mutation_p.G113C	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	113	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				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						TGTCCATTTAGGCTTATCCCA	0.388																																																0													155	136	142					21																	38084911		2203	4300	6503	SO:0001583	missense	6493				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.337G>T	chr21.hg19:g.38084911G>T	ENSP00000290399:p.Gly113Cys		O60766|Q15470|Q15471|Q15472|Q15473|Q16532|Q2TBD8	Missense_Mutation	SNP	ENST00000290399.6	hg19	CCDS13646.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.5|24.5	4.541391|4.541391	0.85917|0.85917	.|.	.|.	ENSG00000159263|ENSG00000159263	ENST00000290399;ENST00000430056|ENST00000431229	T;T|.	0.39056|.	1.1;1.1|.	5.42|5.42	5.42|5.42	0.78866|0.78866	PAS (2);PAS fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.90717|0.90717	0.7087|0.7087	H|H	0.98199|0.98199	4.17|4.17	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	0.94002|0.94002	0.7276|0.7276	10|5	0.87932|.	D|.	0|.	.|.	19.2521|19.2521	0.93929|0.93929	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	113;113|.	Q14190;Q14190-2|.	SIM2_HUMAN;.|.	C|M	113|50	ENSP00000290399:G113C;ENSP00000404176:G113C|.	ENSP00000290399:G113C|.	G|R	+|+	1|2	0|0	SIM2|SIM2	37006781|37006781	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.904000|0.904000	0.53231|0.53231	9.287000|9.287000	0.95975|0.95975	2.542000|2.542000	0.85734|0.85734	0.655000|0.655000	0.94253|0.94253	GGC|AGG		0.388	SIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194692.1	NM_009586		T	38084911	G	T	38084911	3	4	784	1	0	0	0	0	1	0	0	0	14330	1000	35	4	347	4	SIM2	21	38084911	Missense_Mutation	SNP	G	TCGA-SX-A71S-01A-11D-A33Q-10	7369887	38084911	10044984	123	46538											
DSCAM	1826	hgsc.bcm.edu	37	21	41559859	41559859	+	Missense_Mutation	SNP	G	G	A			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr21:41559859G>A	ENST00000400454.1	-	13	3086	c.2609C>T	c.(2608-2610)tCt>tTt	p.S870F		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	870	Ig-like C2-type 9.				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)				CTCCCCATAAGAATTAATAGC	0.403																																					Melanoma(134;970 1778 1785 21664 32388)											0													113	102	105					21																	41559859		1859	4104	5963	SO:0001583	missense	1826			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.2609C>T	chr21.hg19:g.41559859G>A	ENSP00000383303:p.Ser870Phe		O60468	Missense_Mutation	SNP	ENST00000400454.1	hg19	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.580605	0.86645	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.70399	-0.48;-0.48	4.74	4.74	0.60224	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.86678	0.5990	M	0.89287	3.02	0.58432	D	0.999996	D	0.76494	0.999	D	0.87578	0.998	D	0.88729	0.3235	10	0.52906	T	0.07	.	18.0962	0.89490	0.0:0.0:1.0:0.0	.	870	O60469	DSCAM_HUMAN	F	870;622	ENSP00000383303:S870F;ENSP00000385342:S622F	ENSP00000383303:S870F	S	-	2	0	DSCAM	40481729	1.000000	0.71417	0.992000	0.48379	0.985000	0.73830	9.679000	0.98649	2.309000	0.77851	0.561000	0.74099	TCT		0.403	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		A	41559859	G	A	41559859	3	1	784	1	0	0	0	0	1	0	0	0	4770	942	33	2	3513	2	DSCAM	21	41559859	Missense_Mutation	SNP	G	TCGA-SX-A71S-01A-11D-A33Q-10	3474948	41559859	6570036	124	46539											
COL18A1	80781	hgsc.bcm.edu	37	21	46875847	46875847	+	Missense_Mutation	SNP	G	G	A			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr21:46875847G>A	ENST00000359759.4	+	1	424	c.403G>A	c.(403-405)Gag>Aag	p.E135K	COL18A1_ENST00000400337.2_Intron|COL18A1_ENST00000355480.5_Missense_Mutation_p.E135K			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	135					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)		TGTCCCCACTGAGAGCTTGGC	0.642																																																0													34	40	38					21																	46875847		2089	4179	6268	SO:0001583	missense	80781				CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"Collagens"	2195	protein-coding gene	gene with protein product	"endostatin"	120328	"Knobloch syndrome, type 1"	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.403G>A	chr21.hg19:g.46875847G>A	ENSP00000352798:p.Glu135Lys		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Missense_Mutation	SNP	ENST00000359759.4	hg19		.	.	.	.	.	.	.	.	.	.	G	12.33	1.906637	0.33628	.	.	ENSG00000182871	ENST00000355480;ENST00000359759;ENST00000539645	T;T	0.31769	1.48;1.48	3.11	-0.0648	0.13771	Domain of unknown function DUF959, collagen XVIII, N-terminal (1);	0.988177	0.08216	N	0.979979	T	0.28764	0.0713	L	0.53249	1.67	0.09310	N	1	B;B	0.25441	0.126;0.103	B;B	0.28916	0.096;0.039	T	0.37888	-0.9686	10	0.52906	T	0.07	.	6.3553	0.21398	0.1093:0.3523:0.5383:0.0	.	135;135	P39060;P39060-1	COIA1_HUMAN;.	K	135	ENSP00000347665:E135K;ENSP00000352798:E135K	ENSP00000347665:E135K	E	+	1	0	COL18A1	45700275	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.939000	0.01545	-0.007000	0.14345	-0.479000	0.04858	GAG		0.642	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1			A	46875847	G	A	46875847	3	1	784	1	0	0	0	0	1	0	0	0	3677	1291	45	2	519	2	COL18A1	21	46875847	Missense_Mutation	SNP	G	TCGA-SX-A71S-01A-11D-A33Q-10	5315988	46875847	1254048	125	46540											
SREBF2	6721	hgsc.bcm.edu	37	22	42281013	42281013	+	Missense_Mutation	SNP	G	G	T			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chr22:42281013G>T	ENST00000361204.4	+	11	2372	c.2206G>T	c.(2206-2208)Gcc>Tcc	p.A736S		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	736					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						GGGCTTCCTGGCCGTGAGTAC	0.562																																																0													101	78	86					22																	42281013		2203	4300	6503	SO:0001583	missense	6721			U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911		"Basic helix-loop-helix proteins"	11290	protein-coding gene	gene with protein product		600481				7903453	Standard	NM_004599		Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.2206G>T	chr22.hg19:g.42281013G>T	ENSP00000354476:p.Ala736Ser		Q05BD5|Q6GTH7|Q86V36|Q9UH04	Missense_Mutation	SNP	ENST00000361204.4	hg19	CCDS14023.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.073508	0.36566	.	.	ENSG00000198911	ENST00000361204;ENST00000457567	T	0.08458	3.09	5.13	5.13	0.70059	.	0.101356	0.64402	D	0.000002	T	0.06325	0.0163	L	0.32530	0.975	0.51482	D	0.999926	B	0.31581	0.329	B	0.27170	0.077	T	0.36187	-0.9758	10	0.11485	T	0.65	-16.1308	11.9942	0.53191	0.0796:0.0:0.9204:0.0	.	736	Q12772	SRBP2_HUMAN	S	736	ENSP00000354476:A736S	ENSP00000354476:A736S	A	+	1	0	SREBF2	40610959	1.000000	0.71417	1.000000	0.80357	0.694000	0.40290	4.372000	0.59530	2.412000	0.81896	0.491000	0.48974	GCC		0.562	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321956.1	NM_004599		T	42281013	G	T	42281013	3	4	784	1	0	0	0	0	1	0	0	0	15147	1203	42	4	2248	4	SREBF2	22	42281013	Missense_Mutation	SNP	G	TCGA-SX-A71S-01A-11D-A33Q-10		42281013	9023553	126	46541											
DACH2	117154	hgsc.bcm.edu	37	X	85906115	85906115	+	Frame_Shift_Del	DEL	A	A	-			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chrX:85906115delA	ENST00000373125.4	+	4	717	c.717delA	c.(715-717)ggafs	p.G239fs	DACH2_ENST00000510272.1_Frame_Shift_Del_p.G20fs|DACH2_ENST00000373131.1_Frame_Shift_Del_p.G226fs|DACH2_ENST00000508860.1_Frame_Shift_Del_p.G72fs	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	239					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						CTCTTCAGGGAAATGGAAGCC	0.433																																																0													99	78	85					X																	85906115		2203	4299	6502	SO:0001589	frameshift_variant	117154			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.717delA	chrX.hg19:g.85906115delA	ENSP00000362217:p.Gly239fs		B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Frame_Shift_Del	DEL	ENST00000373125.4	hg19	CCDS14455.1																																																																																				0.433	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281		-	85906115	A	-	85906115	7	5	784	1	0	1	0	1	0	0	0	0	4223	233	9	0	731	0	DACH2	23	85906115	Frame_Shift_Del	DEL	A	TCGA-SX-A71S-01A-11D-A33Q-10		85906115	69364445	127	46542											
FMR1	2332	hgsc.bcm.edu	37	X	147014033	147014033	+	Silent	SNP	T	T	C			TCGA-SX-A71S-01A-11D-A33Q-10	TCGA-SX-A71S-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	158b7380-c848-4b01-a581-e79ff31ca48f	0175a079-c143-46a1-975c-4d940bd28bc4	g.chrX:147014033T>C	ENST00000370475.4	+	8	848	c.720T>C	c.(718-720)aaT>aaC	p.N240N	FMR1_ENST00000370470.1_Silent_p.N240N|FMR1_ENST00000370477.1_Silent_p.N240N|FMR1_ENST00000218200.8_Silent_p.N240N|FMR1_ENST00000370471.3_Silent_p.N240N|FMR1_ENST00000334557.6_Silent_p.N240N|FMR1_ENST00000440235.2_5'UTR|FMR1_ENST00000439526.2_Silent_p.N240N	NM_002024.5	NP_002015.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	240	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				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)					ATGGTGCTAATATTCAGCAAG	0.388									Fragile X syndrome																																							0													176	164	168					X																	147014033		2203	4300	6503	SO:0001819	synonymous_variant	2332	Familial Cancer Database	Martin-Bell syndrome, FRAXA syndrome	X69962	CCDS14682.1, CCDS55518.1, CCDS55519.1, CCDS76039.1	Xq27.3	2014-09-17			ENSG00000102081	ENSG00000102081			3775	protein-coding gene	gene with protein product		309550	"premature ovarian failure 1"	POF1, POF		1572655	Standard	NM_002024		Approved	FMRP, FRAXA, MGC87458	uc010nst.3	Q06787	OTTHUMG00000022606	ENST00000370475.4:c.720T>C	chrX.hg19:g.147014033T>C			A6NNH4|D3DWT0|D3DWT1|D3DWT2|G8JL90|Q16578|Q5PQZ6|Q99054	Silent	SNP	ENST00000370475.4	hg19	CCDS14682.1																																																																																				0.388	FMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058655.1	NM_002024		C	147014033	T	C	147014033	2	2	784	1	0	0	0	0	0	0	0	1	5962	1403	49	3		3	FMR1	23	147014033	Silent	SNP	T	TCGA-SX-A71S-01A-11D-A33Q-10	61107918	147014033	8256527	128	46543											
PTCHD2	57540	hgsc.bcm.edu	37	1	11561256	11561256	+	Silent	SNP	C	C	T			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr1:11561256C>T	ENST00000294484.6	+	2	345	c.207C>T	c.(205-207)acC>acT	p.T69T	PTCHD2_ENST00000389575.3_Silent_p.T69T	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	69					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GGGCCTTCACCAATCCGTGCT	0.642																																																0													72	74	73					1																	11561256		2068	4188	6256	SO:0001819	synonymous_variant	57540			AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.207C>T	chr1.hg19:g.11561256C>T			Q5VTU9|Q9UJD6	Silent	SNP	ENST00000294484.6	hg19	CCDS41247.1																																																																																				0.642	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		T	11561256	C	T	11561256	2	4	785	1	0	0	0	0	0	0	0	1	12738	581	21	2		2	PTCHD2	1	11561256	Silent	SNP	C	TCGA-SX-A71U-01A-12D-A33Q-10		11561256	237689365	1	46544											
KLHDC7A	127707	hgsc.bcm.edu	37	1	18808064	18808064	+	Missense_Mutation	SNP	C	C	T			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr1:18808064C>T	ENST00000400664.1	+	1	641	c.589C>T	c.(589-591)Cca>Tca	p.P197S		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	197						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)		CCGTGAGCATCCAGGACTGGG	0.602																																																0													45	47	46					1																	18808064		2203	4300	6503	SO:0001583	missense	127707			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.589C>T	chr1.hg19:g.18808064C>T	ENSP00000383505:p.Pro197Ser		Q8N8W6	Missense_Mutation	SNP	ENST00000400664.1	hg19	CCDS185.2	.	.	.	.	.	.	.	.	.	.	C	12.19	1.864315	0.32977	.	.	ENSG00000179023	ENST00000400664;ENST00000540290	T	0.72394	-0.65	5.7	3.79	0.43588	.	1.829710	0.03990	U	0.294708	T	0.54367	0.1854	N	0.14661	0.345	0.09310	N	1	B	0.21905	0.062	B	0.20577	0.03	T	0.42015	-0.9476	10	0.14656	T	0.56	.	7.7248	0.28753	0.1675:0.7492:0.0:0.0834	.	197	Q5VTJ3	KLD7A_HUMAN	S	197;134	ENSP00000383505:P197S	ENSP00000383505:P197S	P	+	1	0	KLHDC7A	18680651	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	0.281000	0.18810	0.710000	0.31997	0.591000	0.81541	CCA		0.602	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	NM_152375		T	18808064	C	T	18808064	3	4	785	1	0	0	0	0	1	0	0	0	8362	855	30	2	591	2	KLHDC7A	1	18808064	Missense_Mutation	SNP	C	TCGA-SX-A71U-01A-12D-A33Q-10	7246808	18808064	230442557	2	46545											
SNRNP40	9410	hgsc.bcm.edu	37	1	31744229	31744229	+	Missense_Mutation	SNP	T	T	A			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr1:31744229T>A	ENST00000263694.4	-	6	790	c.772A>T	c.(772-774)Aca>Tca	p.T258S	SNRNP40_ENST00000446633.2_Missense_Mutation_p.T258S|SNRNP40_ENST00000373720.3_5'Flank|SNRNP40_ENST00000489853.1_5'UTR	NM_004814.2	NP_004805.2	Q96DI7	SNR40_HUMAN	small nuclear ribonucleoprotein 40kDa (U5)	258					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						AAGTTACCTGTATTGTCCATT	0.423																																																0													74	76	76					1																	31744229		2203	4300	6503	SO:0001583	missense	9410			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.772A>T	chr1.hg19:g.31744229T>A	ENSP00000263694:p.Thr258Ser		B4DQJ1|O75938|O95320	Missense_Mutation	SNP	ENST00000263694.4	hg19	CCDS340.1	.	.	.	.	.	.	.	.	.	.	T	16.61	3.169851	0.57584	.	.	ENSG00000060688	ENST00000263694;ENST00000446633	T;T	0.66638	-0.22;-0.22	5.52	5.52	0.82312	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.044686	0.85682	D	0.000000	T	0.65165	0.2665	L	0.50333	1.59	0.58432	D	0.999999	B;B	0.19935	0.04;0.022	B;B	0.31101	0.122;0.124	T	0.61792	-0.6990	10	0.39692	T	0.17	.	15.6465	0.77061	0.0:0.0:0.0:1.0	.	258;258	B4DQJ1;Q96DI7	.;SNR40_HUMAN	S	258	ENSP00000263694:T258S;ENSP00000406841:T258S	ENSP00000263694:T258S	T	-	1	0	SNRNP40	31516816	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.895000	0.69814	2.091000	0.63221	0.460000	0.39030	ACA		0.423	SNRNP40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010657.1	NM_004814		A	31744229	T	A	31744229	3	1	785	1	0	0	0	0	1	0	0	0	14862	1638	57	5	321	5	SNRNP40	1	31744229	Missense_Mutation	SNP	T	TCGA-SX-A71U-01A-12D-A33Q-10	12936165	31744229	217506392	3	46546											
WDR65	149465	hgsc.bcm.edu	37	1	43649431	43649431	+	Missense_Mutation	SNP	C	C	A			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr1:43649431C>A	ENST00000372492.4	+	4	968	c.644C>A	c.(643-645)aCt>aAt	p.T215N	WDR65_ENST00000528956.1_Missense_Mutation_p.T215N	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN		215										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)				GTCGTTGGCACTGACACAGGC	0.502																																																0													142	133	136					1																	43649431		2203	4300	6503	SO:0001583	missense	149465																														ENST00000372492.4:c.644C>A	chr1.hg19:g.43649431C>A	ENSP00000361570:p.Thr215Asn		A6NKQ3|Q17RI9|Q5TAI0	Missense_Mutation	SNP	ENST00000372492.4	hg19		.	.	.	.	.	.	.	.	.	.	C	27.8	4.865019	0.91511	.	.	ENSG00000243710	ENST00000372492;ENST00000528956	T;T	0.48201	0.82;0.82	6.07	6.07	0.98685	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.67268	0.2875	M	0.80982	2.52	0.80722	D	1	P;P	0.51653	0.947;0.845	P;P	0.54100	0.742;0.731	T	0.68473	-0.5399	10	0.59425	D	0.04	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	215;215	Q96MR6;Q96MR6-2	WDR65_HUMAN;.	N	215	ENSP00000361570:T215N;ENSP00000435310:T215N	ENSP00000361570:T215N	T	+	2	0	WDR65	43422018	1.000000	0.71417	0.997000	0.53966	0.910000	0.53928	4.461000	0.60115	2.885000	0.99019	0.655000	0.94253	ACT		0.502	WDR65-002	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000384325.1			A	43649431	C	A	43649431	3	1	785	1	0	0	0	0	1	0	0	0	17321	565	20	4	654	4	WDR65	1	43649431	Missense_Mutation	SNP	C	TCGA-SX-A71U-01A-12D-A33Q-10	11905202	43649431	205601190	4	46547											
HIPK1	204851	hgsc.bcm.edu	37	1	114483624	114483626	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	TGC	TGC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr1:114483624_114483626delTGC	ENST00000369558.1	+	2	851_853	c.619_621delTGC	c.(619-621)tgcdel	p.C207del	HIPK1_ENST00000369555.2_In_Frame_Del_p.C207del|HIPK1_ENST00000369561.4_In_Frame_Del_p.C207del|HIPK1_ENST00000426820.2_In_Frame_Del_p.C207del|HIPK1_ENST00000369554.2_In_Frame_Del_p.C207del|HIPK1_ENST00000369559.4_In_Frame_Del_p.C207del			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	207	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-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)		GGTGGCTAAGTGCTGGAAGAGGA	0.498																																																0																																										SO:0001651	inframe_deletion	204851			AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.619_621delTGC	chr1.hg19:g.114483624_114483626delTGC	ENSP00000358571:p.Cys207del		A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	In_Frame_Del	DEL	ENST00000369558.1	hg19	CCDS867.1																																																																																				0.498	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	NM_198268		-	114483626	TGC	-	114483624	7	5	785	1	0	1	0	1	0	0	0	0	7118	1696	59	0	621	0	HIPK1	1	114483624	In_Frame_Del	DEL	TGC	TCGA-SX-A71U-01A-12D-A33Q-10	70834193	114483624	134766997	5	46548											
HMGCS2	3158	hgsc.bcm.edu	37	1	120300026	120300026	+	Nonsense_Mutation	SNP	G	G	A			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr1:120300026G>A	ENST00000369406.3	-	5	935	c.886C>T	c.(886-888)Cag>Tag	p.Q296*	HMGCS2_ENST00000476640.1_5'UTR|HMGCS2_ENST00000544913.2_Nonsense_Mutation_p.Q254*	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	296					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)		ATCATGTACTGTAAATCGTCA	0.517																																																0													95	85	88					1																	120300026		2203	4300	6503	SO:0001587	stop_gained	3158			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.886C>T	chr1.hg19:g.120300026G>A	ENSP00000358414:p.Gln296*		B7Z8R3|D3Y5K6|Q5SZU2|Q6IBF4	Nonsense_Mutation	SNP	ENST00000369406.3	hg19	CCDS905.1	.	.	.	.	.	.	.	.	.	.	G	35	5.588598	0.96590	.	.	ENSG00000134240	ENST00000369406;ENST00000544913	.	.	.	5.33	4.36	0.52297	.	0.195185	0.36303	N	0.002662	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-1.6266	8.8144	0.34987	0.0:0.2688:0.5824:0.1487	.	.	.	.	X	296;254	.	ENSP00000358414:Q296X	Q	-	1	0	HMGCS2	120101549	0.983000	0.35010	0.944000	0.38274	0.855000	0.48748	1.916000	0.39986	2.646000	0.89796	0.655000	0.94253	CAG		0.517	HMGCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033469.2	NM_005518		A	120300026	G	A	120300026	4	1	785	1	0	0	0	0	0	1	0	0	7235	1386	48	2	660	2	HMGCS2	1	120300026	Nonsense_Mutation	SNP	G	TCGA-SX-A71U-01A-12D-A33Q-10	5816402	120300026	128950595	6	46549											
PEAR1	375033	hgsc.bcm.edu	37	1	156876561	156876561	+	Missense_Mutation	SNP	G	G	T			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr1:156876561G>T	ENST00000338302.3	+	7	758	c.533G>T	c.(532-534)tGt>tTt	p.C178F	PEAR1_ENST00000292357.7_Missense_Mutation_p.C178F			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	178					recognition of apoptotic cell (GO:0043654)	integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTTCAGCCCTGTACCCCTGGC	0.632																																																0													119	104	109					1																	156876561		2203	4300	6503	SO:0001583	missense	375033			AK098809	CCDS30892.1	1q23.1	2008-02-05	2007-10-25	2007-10-25	ENSG00000187800	ENSG00000187800			33631	protein-coding gene	gene with protein product		610278	"multiple EGF-like-domains 12"	MEGF12		15851471	Standard	NM_001080471		Approved	JEDI, FLJ00193	uc001fqj.1	Q5VY43	OTTHUMG00000041293	ENST00000338302.3:c.533G>T	chr1.hg19:g.156876561G>T	ENSP00000344465:p.Cys178Phe		Q8TEK2	Missense_Mutation	SNP	ENST00000338302.3	hg19	CCDS30892.1	.	.	.	.	.	.	.	.	.	.	G	17.99	3.523741	0.64747	.	.	ENSG00000187800	ENST00000338302;ENST00000292357	T;T	0.72835	-0.69;-0.69	4.81	4.81	0.61882	.	0.000000	0.53938	D	0.000045	D	0.90170	0.6928	H	0.99732	4.735	0.58432	D	0.999999	D	0.71674	0.998	D	0.68621	0.959	D	0.94083	0.7346	9	.	.	.	.	15.4054	0.74874	0.0:0.0:1.0:0.0	.	178	Q5VY43	PEAR1_HUMAN	F	178	ENSP00000344465:C178F;ENSP00000292357:C178F	.	C	+	2	0	PEAR1	155143185	1.000000	0.71417	0.632000	0.29296	0.378000	0.30076	8.189000	0.89712	2.497000	0.84241	0.561000	0.74099	TGT		0.632	PEAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098937.2	NM_001080471		T	156876561	G	T	156876561	3	4	785	1	0	0	0	0	1	0	0	0	11714	1377	48	4	551	4	PEAR1	1	156876561	Missense_Mutation	SNP	G	TCGA-SX-A71U-01A-12D-A33Q-10	36576535	156876561	92374060	7	46550											
TADA1	117143	hgsc.bcm.edu	37	1	166838685	166838685	+	Missense_Mutation	SNP	G	G	C			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr1:166838685G>C	ENST00000367874.4	-	3	322	c.229C>G	c.(229-231)Cca>Gca	p.P77A		NM_053053.3	NP_444281.1	Q96BN2	TADA1_HUMAN	transcriptional adaptor 1	77					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						CCCTTACCTGGTGTAGAAACC	0.398																																																0													75	64	67					1																	166838685		2203	4300	6503	SO:0001583	missense	117143			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.229C>G	chr1.hg19:g.166838685G>C	ENSP00000356848:p.Pro77Ala		A8K4J9	Missense_Mutation	SNP	ENST00000367874.4	hg19	CCDS1255.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.336601	0.60963	.	.	ENSG00000152382	ENST00000367874	T	0.50548	0.74	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.21145	0.0509	N	0.08118	0	0.47153	D	0.999336	B;P	0.37708	0.149;0.606	B;B	0.43018	0.196;0.405	T	0.11446	-1.0587	9	0.17832	T	0.49	.	17.4199	0.87512	0.0:0.0:1.0:0.0	.	77;77	A8K4J9;Q96BN2	.;TADA1_HUMAN	A	77	ENSP00000356848:P77A	ENSP00000356848:P77A	P	-	1	0	TADA1	165105309	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.289000	0.78701	2.707000	0.92482	0.655000	0.94253	CCA		0.398	TADA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082881.1	NM_053053		C	166838685	G	C	166838685	3	2	785	1	0	0	0	0	1	0	0	0	15514	1261	44	4	802	4	TADA1	1	166838685	Missense_Mutation	SNP	G	TCGA-SX-A71U-01A-12D-A33Q-10	9962124	166838685	82411936	8	46551											
ADCY10	55811	hgsc.bcm.edu	37	1	167871039	167871039	+	Missense_Mutation	SNP	A	A	T			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr1:167871039A>T	ENST00000367851.4	-	5	481	c.297T>A	c.(295-297)gaT>gaA	p.D99E	ADCY10_ENST00000545172.1_Intron|ADCY10_ENST00000367848.1_Missense_Mutation_p.D7E	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	99	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						CTAGCAGTGCATCACCTTCAG	0.463																																																0													126	130	129					1																	167871039		2203	4300	6503	SO:0001583	missense	55811			AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"Adenylate cyclases"	21285	protein-coding gene	gene with protein product	"soluble adenylyl cyclase", "Hypercalciuria, absorptive, 2"	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.297T>A	chr1.hg19:g.167871039A>T	ENSP00000356825:p.Asp99Glu		B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	ENST00000367851.4	hg19	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	A	17.68	3.448680	0.63178	.	.	ENSG00000143199	ENST00000367851;ENST00000367848	D;T	0.87256	-2.23;0.04	5.78	-9.57	0.00562	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.64402	D	0.000003	D	0.90137	0.6918	M	0.85373	2.75	0.35082	D	0.763464	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.93979	0.7256	9	0.87932	D	0	-29.5589	18.8216	0.92099	0.2805:0.0:0.7195:0.0	.	7;99	Q96PN6-2;Q96PN6	.;ADCYA_HUMAN	E	99;7	ENSP00000356825:D99E;ENSP00000356822:D7E	ENSP00000356822:D7E	D	-	3	2	ADCY10	166137663	0.626000	0.27120	0.019000	0.16419	0.642000	0.38348	-0.516000	0.06282	-2.105000	0.00842	-0.468000	0.05107	GAT		0.463	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		T	167871039	A	T	167871039	3	4	785	1	0	0	0	0	1	0	0	0	293	214	8	5	4651	5	ADCY10	1	167871039	Missense_Mutation	SNP	A	TCGA-SX-A71U-01A-12D-A33Q-10	1032354	167871039	81379582	9	46552											
BAT2L2	23215	hgsc.bcm.edu	37	1	171526383	171526383	+	Missense_Mutation	SNP	G	G	T			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr1:171526383G>T	ENST00000338920.4	+	19	5363	c.5126G>T	c.(5125-5127)tGg>tTg	p.W1709L	PRRC2C_ENST00000367742.3_Missense_Mutation_p.W1711L|PRRC2C_ENST00000392078.3_Missense_Mutation_p.W1711L|PRRC2C_ENST00000426496.2_Missense_Mutation_p.W1709L	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1709					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										TTTAAGGTCTGGAACAAAAAG	0.398																																																0													28	32	31					1																	171526383		1620	2828	4448	SO:0001583	missense	23215			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.5126G>T	chr1.hg19:g.171526383G>T	ENSP00000343629:p.Trp1709Leu		Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	ENST00000338920.4	hg19	CCDS1296.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.42|14.42	2.530678|2.530678	0.45073|0.45073	.|.	.|.	ENSG00000117523|ENSG00000117523	ENST00000495585|ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080	.|T;T;T;T	.|0.01838	.|4.62;4.61;4.61;4.62	5.89|5.89	5.89|5.89	0.94794|0.94794	.|.	.|0.000000	.|0.44285	.|D	.|0.000468	.|T	.|0.07413	.|0.0187	L|L	0.56769|0.56769	1.78|1.78	0.53688|0.53688	D|D	0.999979|0.999979	.|D	.|0.76494	.|0.999	.|D	.|0.69479	.|0.964	.|T	.|0.11743	.|-1.0575	.|10	.|0.87932	.|D	.|0	.|.	20.3242|20.3242	0.98691|0.98691	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1709	.|Q9Y520-4	.|.	X|L	257|1711;1710;1709;1711;1709;1466	.|ENSP00000375928:W1711L;ENSP00000410219:W1709L;ENSP00000356716:W1711L;ENSP00000343629:W1709L	.|ENSP00000343629:W1709L	G|W	+|+	1|2	0|0	PRRC2C|PRRC2C	169793007|169793007	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	6.908000|6.908000	0.75730|0.75730	2.817000|2.817000	0.96982|0.96982	0.549000|0.549000	0.68633|0.68633	GGA|TGG		0.398	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		T	171526383	G	T	171526383	3	4	785	1	0	0	0	0	1	0	0	0	1321	1357	47	4	5196	4	BAT2L2	1	171526383	Missense_Mutation	SNP	G	TCGA-SX-A71U-01A-12D-A33Q-10	3655344	171526383	77724238	10	46553											
ARPC5	10092	hgsc.bcm.edu	37	1	183604774	183604774	+	Silent	SNP	C	C	A			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr1:183604774C>A	ENST00000359856.6	-	1	87	c.21G>T	c.(19-21)tcG>tcT	p.S7S	RGL1_ENST00000304685.4_5'Flank|RGL1_ENST00000536277.1_5'Flank|ARPC5_ENST00000294742.6_Silent_p.S7S|ARPC5_ENST00000462965.1_5'Flank|ARPC5_ENST00000367534.1_Silent_p.S7S	NM_005717.3	NP_005708.1	O15511	ARPC5_HUMAN	actin related protein 2/3 complex, subunit 5, 16kDa	7					actin cytoskeleton organization (GO:0030036)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	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)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|large_intestine(1)|lung(2)	4						AGCGGGCCGACGACACTGTGT	0.632																																					Melanoma(136;1596 1789 3041 4830 41075)											0													85	68	74					1																	183604774		2203	4300	6503	SO:0001819	synonymous_variant	10092			AF017807	CCDS1357.1, CCDS58050.1	1q	2011-07-06	2002-08-29		ENSG00000162704	ENSG00000162704		"Actin related protein 2/3 complex subunits"	708	protein-coding gene	gene with protein product	"Arp2/3 protein complex subunit p16"	604227	"actin related protein 2/3 complex, subunit 5 (16 kD)"			9359840, 9230079	Standard	NM_005717		Approved	p16-Arc, ARC16, dJ127C7.3	uc021pgb.2	O15511	OTTHUMG00000035326	ENST00000359856.6:c.21G>T	chr1.hg19:g.183604774C>A			A6NEC4|Q6PG42	Silent	SNP	ENST00000359856.6	hg19	CCDS1357.1																																																																																				0.632	ARPC5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000085477.1	NM_005717		A	183604774	C	A	183604774	2	1	785	1	0	0	0	0	0	0	0	1	974	523	19	4		4	ARPC5	1	183604774	Silent	SNP	C	TCGA-SX-A71U-01A-12D-A33Q-10	12078391	183604774	65645847	11	46554											
HMCN1	83872	hgsc.bcm.edu	37	1	186101461	186101461	+	Splice_Site	SNP	A	A	C			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr1:186101461A>C	ENST00000271588.4	+	86	13461	c.13232A>C	c.(13231-13233)aAt>aCt	p.N4411T	HMCN1_ENST00000367492.2_Splice_Site_p.N4411T	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4411	Ig-like C2-type 43.				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						TTTCCATAGAATGAAGATGCC	0.403																																																0													87	84	85					1																	186101461		2203	4300	6503	SO:0001630	splice_region_variant	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.13231-1A>C	chr1.hg19:g.186101461A>C			A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	hg19	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	A	9.020	0.984732	0.18889	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.71579	1.63;-0.58	5.46	5.46	0.80206	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.125941	0.64402	D	0.000001	T	0.67050	0.2852	N	0.11870	0.19	0.37850	D	0.929355	D	0.69078	0.997	D	0.81914	0.995	T	0.65471	-0.6160	10	0.14252	T	0.57	.	10.7243	0.46059	0.8578:0.0:0.0:0.1422	.	4411	Q96RW7	HMCN1_HUMAN	T	4411	ENSP00000271588:N4411T;ENSP00000356462:N4411T	ENSP00000271588:N4411T	N	+	2	0	HMCN1	184368084	1.000000	0.71417	1.000000	0.80357	0.721000	0.41392	4.620000	0.61226	2.186000	0.69663	0.533000	0.62120	AAT		0.403	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	Missense_Mutation	C	186101461	A	C	186101461	5	2	785	1	0	0	0	0	0	0	1	0	7222	115	4	5	13574	5	HMCN1	1	186101461	Splice_Site	SNP	A	TCGA-SX-A71U-01A-12D-A33Q-10	2496687	186101461	63149160	12	46555											
TMCC2	9911	hgsc.bcm.edu	37	1	205211011	205211011	+	Missense_Mutation	SNP	C	C	A			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr1:205211011C>A	ENST00000358024.3	+	2	975	c.586C>A	c.(586-588)Cac>Aac	p.H196N	TMCC2_ENST00000545499.1_Missense_Mutation_p.H118N|TMCC2_ENST00000495538.1_3'UTR	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	196						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)			TGGCAGCCCTCACCTGCTGCG	0.721																																																0													11	11	11					1																	205211011		2168	4246	6414	SO:0001583	missense	9911			AB001596	CCDS30984.1, CCDS55676.1, CCDS73010.1	1q32.1	2008-02-05	2005-07-13		ENSG00000133069	ENSG00000133069		"Transmembrane and coiled-coil domain containing"	24239	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 2"			9455484	Standard	NM_014858		Approved	HUCEP11, FLJ38497	uc021pia.1	O75069	OTTHUMG00000037195	ENST00000358024.3:c.586C>A	chr1.hg19:g.205211011C>A	ENSP00000350718:p.His196Asn		A2RRH3|B7Z1P7|Q6ZN09	Missense_Mutation	SNP	ENST00000358024.3	hg19	CCDS30984.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.265906	0.80358	.	.	ENSG00000133069	ENST00000358024;ENST00000545499	T;T	0.32272	1.46;1.5	4.95	4.95	0.65309	.	0.095820	0.45867	D	0.000324	T	0.25044	0.0608	N	0.24115	0.695	0.50813	D	0.999895	B	0.23058	0.079	B	0.18263	0.021	T	0.06881	-1.0802	10	0.87932	D	0	.	17.7809	0.88523	0.0:1.0:0.0:0.0	.	196	O75069	TMCC2_HUMAN	N	196;118	ENSP00000350718:H196N;ENSP00000437943:H118N	ENSP00000350718:H196N	H	+	1	0	TMCC2	203477634	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.465000	0.73538	2.273000	0.75805	0.462000	0.41574	CAC		0.721	TMCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090383.1	NM_014858		A	205211011	C	A	205211011	3	1	785	1	0	0	0	0	1	0	0	0	15998	826	29	4	592	4	TMCC2	1	205211011	Missense_Mutation	SNP	C	TCGA-SX-A71U-01A-12D-A33Q-10	19109550	205211011	44039610	13	46556											
TSPYL6	388951	hgsc.bcm.edu	37	2	54482228	54482228	+	Missense_Mutation	SNP	A	A	T			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr2:54482228A>T	ENST00000317802.7	-	1	1181	c.1061T>A	c.(1060-1062)tTt>tAt	p.F354Y	ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000303536.4_Intron|ACYP2_ENST00000606865.1_Intron	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN	TSPY-like 6	354					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						GTGGTCTGAAAACCAGGTGAA	0.512																																																0													76	82	80					2																	54482228		2148	4284	6432	SO:0001583	missense	388951			AK097417	CCDS42682.1	2p16.3	2007-10-22			ENSG00000178021	ENSG00000178021			14521	protein-coding gene	gene with protein product							Standard	NM_001003937		Approved		uc002rxr.2	Q8N831	OTTHUMG00000151823	ENST00000317802.7:c.1061T>A	chr2.hg19:g.54482228A>T	ENSP00000417919:p.Phe354Tyr		Q6NUJ3	Missense_Mutation	SNP	ENST00000317802.7	hg19	CCDS42682.1	.	.	.	.	.	.	.	.	.	.	A	18.98	3.737596	0.69304	.	.	ENSG00000178021	ENST00000317802	T	0.61158	0.13	1.67	1.67	0.24075	.	.	.	.	.	T	0.77916	0.4202	M	0.93854	3.465	0.42947	D	0.99436	D	0.89917	1.0	D	0.91635	0.999	T	0.79050	-0.1962	9	0.87932	D	0	.	7.3612	0.26748	1.0:0.0:0.0:0.0	.	354	Q8N831	TSYL6_HUMAN	Y	354	ENSP00000417919:F354Y	ENSP00000417919:F354Y	F	-	2	0	TSPYL6	54335732	1.000000	0.71417	0.766000	0.31476	0.265000	0.26407	3.776000	0.55356	1.022000	0.39626	0.383000	0.25322	TTT		0.512	TSPYL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324069.3	XM_371494		T	54482228	A	T	54482228	3	4	785	1	0	0	0	0	1	0	0	0	16668	14	1	5	175	5	TSPYL6	2	54482228	Missense_Mutation	SNP	A	TCGA-SX-A71U-01A-12D-A33Q-10		54482228	188717145	14	46557											
FANCL	55120	hgsc.bcm.edu	37	2	58425781	58425781	+	Missense_Mutation	SNP	G	G	A			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr2:58425781G>A	ENST00000233741.4	-	7	524	c.488C>T	c.(487-489)cCa>cTa	p.P163L	FANCL_ENST00000403295.3_Missense_Mutation_p.P163L|FANCL_ENST00000402135.3_Missense_Mutation_p.P163L|FANCL_ENST00000540646.1_Intron|FANCL_ENST00000403676.1_Missense_Mutation_p.P46L	NM_018062.3	NP_060532.2	Q9NW38	FANCL_HUMAN	Fanconi anemia, complementation group L	163	UBC-RWD region (URD).				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|gamete generation (GO:0007276)|protein monoubiquitination (GO:0006513)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	ligase activity (GO:0016874)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)	8						AAAATAATCTGGTGATTCTGC	0.313								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																							0													58	60	59					2																	58425781		2203	4300	6503	SO:0001583	missense	55120	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK001197	CCDS1860.1, CCDS46294.1	2p16.1	2014-09-17	2003-10-14	2003-10-15	ENSG00000115392	ENSG00000115392		"Zinc fingers, PHD-type", "Fanconi anemia, complementation groups"	20748	protein-coding gene	gene with protein product		608111	"PHD finger protein 9"	PHF9			Standard	NM_018062		Approved	FLJ10335, FAAP43, Pog	uc002rzx.4	Q9NW38	OTTHUMG00000129349	ENST00000233741.4:c.488C>T	chr2.hg19:g.58425781G>A	ENSP00000233741:p.Pro163Leu		Q6GU60	Missense_Mutation	SNP	ENST00000233741.4	hg19	CCDS1860.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.418254	0.83449	.	.	ENSG00000115392	ENST00000403295;ENST00000233741;ENST00000402135;ENST00000403676;ENST00000449070;ENST00000417361	T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96	5.54	5.54	0.83059	Fanconi anemia complex, subunit FancL, WD-repeat containing domain (1);	0.100460	0.64402	D	0.000001	T	0.71239	0.3316	M	0.87269	2.87	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.997;0.998	D;D;D;D	0.79784	0.993;0.991;0.934;0.947	T	0.75733	-0.3214	10	0.87932	D	0	-29.5995	19.8426	0.96695	0.0:0.0:1.0:0.0	.	104;163;163;163	C9JZA9;B5MC31;Q9NW38-2;Q9NW38	.;.;.;FANCL_HUMAN	L	163;163;163;46;104;46	ENSP00000386097:P163L;ENSP00000233741:P163L;ENSP00000385021:P163L;ENSP00000384046:P46L;ENSP00000401280:P104L;ENSP00000389448:P46L	ENSP00000233741:P163L	P	-	2	0	FANCL	58279285	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.706000	0.74649	2.759000	0.94783	0.563000	0.77884	CCA		0.313	FANCL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251497.1	NM_018062		A	58425781	G	A	58425781	3	1	785	1	0	0	0	0	1	0	0	0	5672	1348	47	2	686	2	FANCL	2	58425781	Missense_Mutation	SNP	G	TCGA-SX-A71U-01A-12D-A33Q-10	3943553	58425781	184773592	15	46558											
EHBP1	23301	hgsc.bcm.edu	37	2	63175859	63175859	+	Silent	SNP	A	A	G			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr2:63175859A>G	ENST00000263991.5	+	14	2465	c.1983A>G	c.(1981-1983)ggA>ggG	p.G661G	EHBP1_ENST00000405015.3_Silent_p.G626G|EHBP1_ENST00000431489.1_Silent_p.G626G|EHBP1_ENST00000354487.3_Silent_p.G626G|EHBP1_ENST00000405289.1_Silent_p.G626G	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	661						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)			AGAGCTCTGGAAGGACTTCAG	0.458																																																0													55	56	55					2																	63175859		2203	4300	6503	SO:0001819	synonymous_variant	23301			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.1983A>G	chr2.hg19:g.63175859A>G			O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9	Silent	SNP	ENST00000263991.5	hg19	CCDS1872.1																																																																																				0.458	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251616.1	NM_015252		G	63175859	A	G	63175859	2	3	785	1	0	0	0	0	0	0	0	1	4977	233	9	3		3	EHBP1	2	63175859	Silent	SNP	A	TCGA-SX-A71U-01A-12D-A33Q-10	4750078	63175859	180023514	16	46559											
RNF181	51255	hgsc.bcm.edu	37	2	85823986	85823987	+	Missense_Mutation	DNP	GA	GA	AC			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	G|A	G|A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr2:85823986_85823987GA>AC	ENST00000306368.4	+	3	289_290	c.259_260GA>AC	c.(259-261)GAg>ACg	p.E87T	RNF181_ENST00000441634.1_Missense_Mutation_p.E87T	NM_016494.3	NP_057578.1	Q9P0P0	RN181_HUMAN	ring finger protein 181	87					protein autoubiquitination (GO:0051865)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			lung(1)|stomach(1)	2						TGAGGAGGAGGAGACTGCCATT	0.535																																																0																																										SO:0001583	missense	51255			AF151072	CCDS1981.1	2p11.2	2013-01-09			ENSG00000168894	ENSG00000168894		"RING-type (C3HC4) zinc fingers"	28037	protein-coding gene	gene with protein product		612490				11042152	Standard	XM_005264359		Approved	HSPC238	uc002spv.1	Q9P0P0	OTTHUMG00000130182	Exception_encountered	chr2.hg19:g.85823986_85823987delinsAC	ENSP00000306906:p.Glu87Thr		Q53H81	Missense_Mutation	SNP	ENST00000306368.4	hg19	CCDS1981.1																																																																																				0.535	RNF181-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252500.1	NM_016494		AC	85823987	GA	AC	85823986	3	1	785	1	0	0	0	0	1	0	0	0	13471	1175	41	2	269	2	RNF181	2	85823986	Missense_Mutation	DNP	GA	TCGA-SX-A71U-01A-12D-A33Q-10	22648127	85823986	157375387	17	46560											
TTN	7273	hgsc.bcm.edu	37	2	179426840	179426840	+	Missense_Mutation	SNP	T	T	A			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr2:179426840T>A	ENST00000591111.1	-	276	79320	c.79096A>T	c.(79096-79098)Act>Tct	p.T26366S	TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T25439S|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_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.T19067S|TTN_ENST00000460472.2_Missense_Mutation_p.T18942S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T28007S|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T19134S			Q8WZ42	TITIN_HUMAN	titin	26366	Ig-like 127.				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)			TTGACTCTAGTTGTCTCTTTA	0.363																																																0													45	47	46					2																	179426840		1883	4112	5995	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.79096A>T	chr2.hg19:g.179426840T>A	ENSP00000465570:p.Thr26366Ser		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	hg19		.	.	.	.	.	.	.	.	.	.	T	13.09	2.134735	0.37728	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.38560	1.13;1.13;1.13;1.13	6.05	4.88	0.63580	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	0.42877	0.1222	N	0.20445	0.575	0.49582	D	0.999808	D;D;D;D	0.56746	0.977;0.977;0.977;0.958	P;P;P;P	0.55011	0.766;0.766;0.766;0.689	T	0.44787	-0.9305	9	0.87932	D	0	.	13.6782	0.62467	0.0:0.0:0.1285:0.8715	.	18942;19067;19134;26366	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	25439;18942;19134;19067;18940	ENSP00000343764:T25439S;ENSP00000434586:T18942S;ENSP00000340554:T19134S;ENSP00000352154:T19067S	ENSP00000340554:T19134S	T	-	1	0	TTN	179135086	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	6.190000	0.72057	1.076000	0.40961	0.528000	0.53228	ACT		0.363	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179426840	T	A	179426840	3	1	785	1	0	0	0	0	1	0	0	0	16740	1725	60	5	24108	5	TTN	2	179426840	Missense_Mutation	SNP	T	TCGA-SX-A71U-01A-12D-A33Q-10	93602854	179426840	63772533	18	46561											
PMS1	5378	hgsc.bcm.edu	37	2	190717495	190717495	+	Missense_Mutation	SNP	A	A	T	rs375164425		TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr2:190717495A>T	ENST00000441310.2	+	7	1047	c.814A>T	c.(814-816)Atc>Ttc	p.I272F	PMS1_ENST00000409823.3_Missense_Mutation_p.I233F|PMS1_ENST00000447232.2_Missense_Mutation_p.I272F|PMS1_ENST00000432292.3_Missense_Mutation_p.I96F|PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000418224.3_Missense_Mutation_p.I96F	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	272					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)	MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|mismatched DNA binding (GO:0030983)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			TCAAAAAGATATCTTAAAGGT	0.313			"Mis, N"			"colorectal, endometrial, ovarian"		Direct reversal of damage;Mismatch excision repair (MMR)																														yes	Rec		Hereditary non-polyposis colorectal cancer	2	2q31-q33	5378	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)		E	0													56	58	57					2																	190717495		2203	4299	6502	SO:0001583	missense	5378				CCDS2302.1, CCDS46473.1, CCDS46474.1, CCDS74615.1	2q31-q33	2014-09-17	2001-11-28		ENSG00000064933	ENSG00000064933			9121	protein-coding gene	gene with protein product		600258	"postmeiotic segregation increased (S. cerevisiae) 1"	PMSL1		8072530	Standard	NM_000534		Approved		uc002urh.4	P54277	OTTHUMG00000132664	ENST00000441310.2:c.814A>T	chr2.hg19:g.190717495A>T	ENSP00000406490:p.Ile272Phe		D3DPI1|Q4VAL4|Q5FBZ3|Q5FBZ6|Q5FBZ8	Missense_Mutation	SNP	ENST00000441310.2	hg19	CCDS2302.1	.	.	.	.	.	.	.	.	.	.	A	18.12	3.553094	0.65425	.	.	ENSG00000064933	ENST00000392338;ENST00000441310;ENST00000418224;ENST00000409823;ENST00000447232;ENST00000432292;ENST00000424307;ENST00000409593	D;D;D;D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03;-2.03;-2.03;-2.03	5.39	5.39	0.77823	Ribosomal protein S5 domain 2-type fold (1);DNA mismatch repair protein, N-terminal (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);DNA mismatch repair protein, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92750	0.7695	M	0.85630	2.765	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.986;1.0;1.0;0.994;0.987;0.986;0.986	D;D;D;D;D;D;D	0.87578	0.952;0.998;0.998;0.979;0.952;0.952;0.952	D	0.92936	0.6368	10	0.45353	T	0.12	-13.672	15.6976	0.77512	1.0:0.0:0.0:0.0	.	272;233;233;57;233;272;272	Q4VAL4;B4DMF4;Q5FBZ9;Q5FBZ6;Q5FBZ3;Q5FBZ8;P54277	.;.;.;.;.;.;PMS1_HUMAN	F	96;272;96;233;272;96;211;57	ENSP00000406490:I272F;ENSP00000404492:I96F;ENSP00000387125:I233F;ENSP00000401064:I272F;ENSP00000398378:I96F;ENSP00000389938:I211F;ENSP00000387169:I57F	ENSP00000376149:I96F	I	+	1	0	PMS1	190425740	1.000000	0.71417	1.000000	0.80357	0.366000	0.29705	4.548000	0.60718	2.168000	0.68352	0.397000	0.26171	ATC		0.313	PMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255918.2			T	190717495	A	T	190717495	3	4	785	1	0	0	0	0	1	0	0	0	12144	449	16	5	836	5	PMS1	2	190717495	Missense_Mutation	SNP	A	TCGA-SX-A71U-01A-12D-A33Q-10	11290655	190717495	52481878	19	46562											
STAT1	6772	hgsc.bcm.edu	37	2	191873805	191873805	+	Missense_Mutation	SNP	C	C	G			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr2:191873805C>G	ENST00000361099.3	-	4	544	c.157G>C	c.(157-159)Gcc>Ccc	p.A53P	STAT1_ENST00000392323.2_Missense_Mutation_p.A55P|STAT1_ENST00000392322.3_Missense_Mutation_p.A53P|STAT1_ENST00000540176.1_Missense_Mutation_p.A53P|STAT1_ENST00000409465.1_Missense_Mutation_p.A53P	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	53					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)			CGGATGGTGGCAAATGAAACA	0.373																																																0													113	106	108					2																	191873805		2203	4300	6503	SO:0001583	missense	6772				CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"SH2 domain containing"	11362	protein-coding gene	gene with protein product	"transcription factor ISGF-3 components p91/p84"	600555	"signal transducer and activator of transcription 1, 91kD"			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.157G>C	chr2.hg19:g.191873805C>G	ENSP00000354394:p.Ala53Pro		A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Missense_Mutation	SNP	ENST00000361099.3	hg19	CCDS2309.1	.	.	.	.	.	.	.	.	.	.	C	34	5.300702	0.95601	.	.	ENSG00000115415	ENST00000361099;ENST00000409465;ENST00000540176;ENST00000392322;ENST00000392323;ENST00000424722;ENST00000454414;ENST00000432058	T;T;T;T;T;T;T;T	0.60424	0.19;0.19;0.19;0.19;0.19;0.19;0.19;0.19	5.52	5.52	0.82312	STAT transcription factor, protein interaction (4);	0.000000	0.85682	D	0.000000	T	0.80308	0.4599	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	T	0.83341	-0.0008	10	0.72032	D	0.01	-28.6958	18.4444	0.90678	0.0:1.0:0.0:0.0	.	53;53	P42224-2;P42224	.;STAT1_HUMAN	P	53;53;53;53;55;53;53;53	ENSP00000354394:A53P;ENSP00000386244:A53P;ENSP00000438703:A53P;ENSP00000376136:A53P;ENSP00000376137:A55P;ENSP00000402548:A53P;ENSP00000411398:A53P;ENSP00000416019:A53P	ENSP00000354394:A53P	A	-	1	0	STAT1	191582050	1.000000	0.71417	0.977000	0.42913	0.863000	0.49368	7.818000	0.86416	2.602000	0.87976	0.557000	0.71058	GCC		0.373	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255997.3	NM_007315		G	191873805	C	G	191873805	3	3	785	1	0	0	0	0	1	0	0	0	15269	710	25	4	2187	4	STAT1	2	191873805	Missense_Mutation	SNP	C	TCGA-SX-A71U-01A-12D-A33Q-10	1156310	191873805	51325568	20	46563											
DNPEP	23549	hgsc.bcm.edu	37	2	220251040	220251040	+	Missense_Mutation	SNP	C	C	T			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr2:220251040C>T	ENST00000273075.4	-	5	647	c.427G>A	c.(427-429)Gac>Aac	p.D143N	DNPEP_ENST00000373972.1_Missense_Mutation_p.D68N|DNPEP_ENST00000523282.1_Missense_Mutation_p.D151N|AC053503.4_ENST00000420563.1_RNA	NM_012100.2	NP_036232	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase	133					peptide metabolic process (GO:0006518)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGAGTCAGGTCACGGTCAAAC	0.612																																																0													109	114	112					2																	220251040		2112	4221	6333	SO:0001583	missense	23549				CCDS42823.1	2q36.1	2008-05-22			ENSG00000123992	ENSG00000123992			2981	protein-coding gene	gene with protein product		611367				9632644	Standard	NM_012100		Approved	DAP, ASPEP	uc002vle.2	Q9ULA0	OTTHUMG00000058919	ENST00000273075.4:c.427G>A	chr2.hg19:g.220251040C>T	ENSP00000273075:p.Asp143Asn		Q9BW44|Q9NUV5	Missense_Mutation	SNP	ENST00000273075.4	hg19	CCDS42823.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.902953	0.92035	.	.	ENSG00000123992	ENST00000273075;ENST00000337010;ENST00000373972;ENST00000523282;ENST00000535056;ENST00000457935;ENST00000429013;ENST00000521459;ENST00000322176;ENST00000434339;ENST00000430206	.	.	.	5.25	4.38	0.52667	Peptidase M18, domain 2 (1);	0.000000	0.85682	D	0.000000	D	0.87204	0.6119	H	0.97158	3.95	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;0.998;0.999;1.0;0.999	D	0.90886	0.4757	9	0.87932	D	0	-5.5253	13.5776	0.61883	0.0:0.9251:0.0:0.0749	.	151;143;151;133;143	E7ETB3;B7Z822;B7Z7F0;Q9ULA0;Q53SB6	.;.;.;DNPEP_HUMAN;.	N	143;143;68;151;36;151;129;143;143;68;68	.	ENSP00000273075:D143N	D	-	1	0	DNPEP	219959284	1.000000	0.71417	0.934000	0.37439	0.798000	0.45092	7.422000	0.80217	1.217000	0.43442	0.561000	0.74099	GAC		0.612	DNPEP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000130212.1	NM_012100		T	220251040	C	T	220251040	3	4	785	1	0	0	0	0	1	0	0	0	4681	826	29	2	1074	2	DNPEP	2	220251040	Missense_Mutation	SNP	C	TCGA-SX-A71U-01A-12D-A33Q-10	28377235	220251040	22948333	21	46564											
SLC19A3	80704	hgsc.bcm.edu	37	2	228566972	228566972	+	Silent	SNP	T	T	C			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr2:228566972T>C	ENST00000258403.3	-	2	134	c.63A>G	c.(61-63)ttA>ttG	p.L21L	SLC19A3_ENST00000409287.1_Silent_p.L21L|SLC19A3_ENST00000541617.1_5'UTR	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	21					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)	AAAAACCAAATAAGCAGAGGA	0.393																																																0													114	120	118					2																	228566972		2203	4300	6503	SO:0001819	synonymous_variant	80704			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.63A>G	chr2.hg19:g.228566972T>C				Silent	SNP	ENST00000258403.3	hg19	CCDS2468.1																																																																																				0.393	SLC19A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256894.1			C	228566972	T	C	228566972	2	2	785	1	0	0	0	0	0	0	0	1	14436	1403	49	3		3	SLC19A3	2	228566972	Silent	SNP	T	TCGA-SX-A71U-01A-12D-A33Q-10	8315932	228566972	14632401	22	46565											
UGT1A5	54579	hgsc.bcm.edu	37	2	234622288	234622288	+	Silent	SNP	T	T	G			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr2:234622288T>G	ENST00000373414.3	+	1	651	c.651T>G	c.(649-651)ccT>ccG	p.P217P	UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000608381.1_Silent_p.P217P|UGT1A1_ENST00000373450.4_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000480628.1_Intron			P35504	UD15_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A5	217						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		TGCTCTACCCTCTGGCCCTGT	0.493																																																0													219	205	210					2																	234622288		2203	4300	6503	SO:0001819	synonymous_variant	54579			M84129	CCDS33404.1	2q37	2010-03-05	2005-07-20		ENSG00000240224	ENSG00000240224		"UDP glucuronosyltransferases"	12537	other	complex locus constituent		606430	"UDP glycosyltransferase 1 family, polypeptide A5"			9295054, 1339448	Standard	NM_019078		Approved	UGT1E		P35504	OTTHUMG00000059120	ENST00000373414.3:c.651T>G	chr2.hg19:g.234622288T>G			B8K294	Silent	SNP	ENST00000373414.3	hg19	CCDS33404.1																																																																																				0.493	UGT1A5-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130985.1	NM_019078		G	234622288	T	G	234622288	2	3	785	1	0	0	0	0	0	0	0	1	16953	1538	54	5		5	UGT1A5	2	234622288	Silent	SNP	T	TCGA-SX-A71U-01A-12D-A33Q-10	6055316	234622288	8577085	23	46566											
CNTN6	27255	hgsc.bcm.edu	37	3	1337389	1337389	+	Missense_Mutation	SNP	G	G	C			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr3:1337389G>C	ENST00000446702.2	+	6	1186	c.559G>C	c.(559-561)Gaa>Caa	p.E187Q	CNTN6_ENST00000350110.2_Missense_Mutation_p.E187Q|CNTN6_ENST00000539053.1_Missense_Mutation_p.E115Q			Q9UQ52	CNTN6_HUMAN	contactin 6	187	Ig-like C2-type 2.				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)		TGCCAAAGTGGAACCATCAGA	0.453																																																0													102	93	96					3																	1337389		2203	4300	6503	SO:0001583	missense	27255			AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	2176	protein-coding gene	gene with protein product	"neural adhesion molecule"	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.559G>C	chr3.hg19:g.1337389G>C	ENSP00000407822:p.Glu187Gln		Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	hg19	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.251401	0.59212	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.67523	-0.27;-0.27;-0.27	5.79	4.91	0.64330	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.101551	0.42821	N	0.000649	T	0.54498	0.1862	L	0.31371	0.925	0.58432	D	0.999998	B;B	0.31274	0.019;0.317	B;B	0.26094	0.015;0.066	T	0.51076	-0.8751	10	0.30078	T	0.28	.	16.6803	0.85290	0.0:0.1297:0.8703:0.0	.	115;187	B4DGV0;Q9UQ52	.;CNTN6_HUMAN	Q	187;115;187	ENSP00000407822:E187Q;ENSP00000442791:E115Q;ENSP00000341882:E187Q	ENSP00000341882:E187Q	E	+	1	0	CNTN6	1312389	1.000000	0.71417	0.993000	0.49108	0.996000	0.88848	6.506000	0.73712	1.419000	0.47118	0.655000	0.94253	GAA		0.453	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		C	1337389	G	C	1337389	3	2	785	1	0	0	0	0	1	0	0	0	3647	1175	41	4	577	4	CNTN6	3	1337389	Missense_Mutation	SNP	G	TCGA-SX-A71U-01A-12D-A33Q-10		1337389	196685041	24	46567											
PLXNB1	5364	hgsc.bcm.edu	37	3	48463585	48463585	+	Silent	SNP	A	A	G			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr3:48463585A>G	ENST00000358536.4	-	6	1718	c.1449T>C	c.(1447-1449)gcT>gcC	p.A483A	PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000358459.4_Silent_p.A483A|PLXNB1_ENST00000456774.1_Silent_p.A483A|PLXNB1_ENST00000296440.6_Silent_p.A483A	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	483					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)		CCAGGTGCTGAGCACAGGAAG	0.587																																																0													66	60	62					3																	48463585		2203	4300	6503	SO:0001819	synonymous_variant	5364			X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"Plexins"	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.1449T>C	chr3.hg19:g.48463585A>G			A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Silent	SNP	ENST00000358536.4	hg19	CCDS2765.1																																																																																				0.587	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673		G	48463585	A	G	48463585	2	3	785	1	0	0	0	0	0	0	0	1	12125	291	11	3		3	PLXNB1	3	48463585	Silent	SNP	A	TCGA-SX-A71U-01A-12D-A33Q-10	47126196	48463585	149558845	25	46568											
ROBO2	6092	hgsc.bcm.edu	37	3	77626674	77626674	+	Missense_Mutation	SNP	T	T	C			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr3:77626674T>C	ENST00000461745.1	+	15	3137	c.2237T>C	c.(2236-2238)cTg>cCg	p.L746P	ROBO2_ENST00000332191.8_Missense_Mutation_p.L746P|ROBO2_ENST00000487694.3_Missense_Mutation_p.L762P	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	746	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)		GTCACTGTACTGACAGTTGGA	0.448																																																0													92	93	92					3																	77626674		1901	4119	6020	SO:0001583	missense	6092			AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10250	protein-coding gene	gene with protein product		602431	"roundabout (axon guidance receptor, Drosophila) homolog 2"			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.2237T>C	chr3.hg19:g.77626674T>C	ENSP00000417164:p.Leu746Pro		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	hg19	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.008858	0.75046	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	T;T;T	0.57752	0.38;0.38;0.38	5.66	5.66	0.87406	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.36002	N	0.002843	T	0.59715	0.2214	L	0.41632	1.29	0.37584	D	0.919925	D;D;D	0.60160	0.984;0.97;0.987	P;P;P	0.57846	0.828;0.786;0.828	T	0.62374	-0.6868	9	0.35671	T	0.21	.	15.8956	0.79333	0.0:0.0:0.0:1.0	.	762;746;746	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	P	762;762;766;746;746;467	ENSP00000417335:L762P;ENSP00000417164:L746P;ENSP00000327536:L746P	ENSP00000327536:L746P	L	+	2	0	ROBO2	77709364	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	6.139000	0.71728	2.154000	0.67381	0.402000	0.26972	CTG		0.448	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		C	77626674	T	C	77626674	3	2	785	1	0	0	0	0	1	0	0	0	13520	1580	55	3	2297	3	ROBO2	3	77626674	Missense_Mutation	SNP	T	TCGA-SX-A71U-01A-12D-A33Q-10	29163089	77626674	120395756	26	46569											
ABCC5	10057	hgsc.bcm.edu	37	3	183639163	183639163	+	Silent	SNP	G	G	C			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr3:183639163G>C	ENST00000334444.6	-	30	4479	c.4239C>G	c.(4237-4239)gtC>gtG	p.V1413V	ABCC5_ENST00000265586.6_Silent_p.V1370V	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1413	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	TGGACAGAAGGACCGATGGGG	0.547																																																0													99	108	105					3																	183639163		2112	4243	6355	SO:0001819	synonymous_variant	10057			AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"ATP binding cassette transporters / subfamily C"	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.4239C>G	chr3.hg19:g.183639163G>C			B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Silent	SNP	ENST00000334444.6	hg19	CCDS43176.1																																																																																				0.547	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		C	183639163	G	C	183639163	2	2	785	1	0	0	0	0	0	0	0	1	56	1161	41	4		4	ABCC5	3	183639163	Silent	SNP	G	TCGA-SX-A71U-01A-12D-A33Q-10	106012489	183639163	14383267	27	46570											
HGFAC	3083	hgsc.bcm.edu	37	4	3447058	3447058	+	Nonsense_Mutation	SNP	C	C	A			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr4:3447058C>A	ENST00000382774.3	+	9	1198	c.1083C>A	c.(1081-1083)taC>taA	p.Y361*	HGFAC_ENST00000511533.1_Nonsense_Mutation_p.Y361*	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	361	Kringle. {ECO:0000255|PROSITE- ProRule:PRU00121}.				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)		CCTGGGAGTACTGCCGCCTGG	0.677																																																0													38	28	31					4																	3447058		2179	4288	6467	SO:0001587	stop_gained	3083			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.1083C>A	chr4.hg19:g.3447058C>A	ENSP00000372224:p.Tyr361*		Q14726|Q2M1W7|Q53X47	Nonsense_Mutation	SNP	ENST00000382774.3	hg19	CCDS3369.1	.	.	.	.	.	.	.	.	.	.	C	36	5.967662	0.97156	.	.	ENSG00000109758	ENST00000382774;ENST00000511533	.	.	.	3.49	1.7	0.24286	.	0.250171	0.34110	U	0.004254	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.8091	0.23794	0.0:0.7478:0.0:0.2522	.	.	.	.	X	361	.	ENSP00000372224:Y361X	Y	+	3	2	HGFAC	3416856	1.000000	0.71417	1.000000	0.80357	0.582000	0.36321	0.700000	0.25601	0.167000	0.19631	-0.448000	0.05591	TAC		0.677	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206607.3			A	3447058	C	A	3447058	4	1	785	1	0	0	0	0	0	1	0	0	7088	576	20	4	1117	4	HGFAC	4	3447058	Nonsense_Mutation	SNP	C	TCGA-SX-A71U-01A-12D-A33Q-10		3447058	187707218	28	46571											
RBM47	54502	hgsc.bcm.edu	37	4	40440004	40440004	+	Missense_Mutation	SNP	C	C	T			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr4:40440004C>T	ENST00000381793.2	-	3	1303	c.907G>A	c.(907-909)Ggc>Agc	p.G303S	RBM47_ENST00000515809.1_Intron|RBM47_ENST00000295971.7_Missense_Mutation_p.G303S|RBM47_ENST00000381795.6_Missense_Mutation_p.G303S|RBM47_ENST00000319592.4_Missense_Mutation_p.G303S|RBM47_ENST00000514014.1_Missense_Mutation_p.G265S			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	303	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						AGCTCAGTGCCGTTGAGGTTG	0.662																																																0													48	42	44					4																	40440004		2203	4300	6503	SO:0001583	missense	54502			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.907G>A	chr4.hg19:g.40440004C>T	ENSP00000371212:p.Gly303Ser		A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Missense_Mutation	SNP	ENST00000381793.2	hg19	CCDS43223.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.059780	0.55325	.	.	ENSG00000163694	ENST00000319592;ENST00000381793;ENST00000381795;ENST00000295971;ENST00000514014	D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54	5.58	4.71	0.59529	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.85195	0.5641	M	0.72576	2.205	0.80722	D	1	D;P	0.71674	0.998;0.828	P;P	0.57776	0.827;0.507	D	0.86236	0.1640	10	0.87932	D	0	-31.4629	10.2085	0.43126	0.1366:0.7926:0.0:0.0708	.	303;303	A0AV96-2;A0AV96	.;RBM47_HUMAN	S	303;303;303;303;265	ENSP00000320108:G303S;ENSP00000371212:G303S;ENSP00000371214:G303S;ENSP00000295971:G303S;ENSP00000423243:G265S	ENSP00000295971:G303S	G	-	1	0	RBM47	40134761	1.000000	0.71417	0.997000	0.53966	0.090000	0.18270	5.721000	0.68477	2.630000	0.89119	0.462000	0.41574	GGC		0.662	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	NM_019027		T	40440004	C	T	40440004	3	4	785	1	0	0	0	0	1	0	0	0	13147	652	23	1	890	1	RBM47	4	40440004	Missense_Mutation	SNP	C	TCGA-SX-A71U-01A-12D-A33Q-10	36992946	40440004	150714272	29	46572											
KLHL8	57563	hgsc.bcm.edu	37	4	88091657	88091657	+	Missense_Mutation	SNP	C	C	A			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr4:88091657C>A	ENST00000273963.5	-	7	1660	c.1319G>T	c.(1318-1320)tGg>tTg	p.W440L	KLHL8_ENST00000512111.1_Missense_Mutation_p.W440L|KLHL8_ENST00000545252.1_Missense_Mutation_p.W89L|KLHL8_ENST00000498875.2_Missense_Mutation_p.W364L|KLHL8_ENST00000425278.2_Missense_Mutation_p.W257L	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN	kelch-like family member 8	440					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)		CACTGTACTCCACTGATCAGA	0.423																																																0													120	109	113					4																	88091657		2203	4300	6503	SO:0001583	missense	57563			AB037799	CCDS3617.1, CCDS75163.1	4q21.3	2013-01-30	2013-01-30		ENSG00000145332	ENSG00000145332		"Kelch-like", "BTB/POZ domain containing"	18644	protein-coding gene	gene with protein product		611967	"kelch-like 8 (Drosophila)"				Standard	XM_005263153		Approved	KIAA1378	uc003hql.1	Q9P2G9	OTTHUMG00000130593	ENST00000273963.5:c.1319G>T	chr4.hg19:g.88091657C>A	ENSP00000273963:p.Trp440Leu		Q53XA3|Q6N018	Missense_Mutation	SNP	ENST00000273963.5	hg19	CCDS3617.1	.	.	.	.	.	.	.	.	.	.	C	32	5.140373	0.94560	.	.	ENSG00000145332	ENST00000273963;ENST00000498875;ENST00000425278;ENST00000545252;ENST00000512111	D;D;D;D;D	0.96940	-4.18;-4.18;-4.18;-4.18;-4.18	5.54	5.54	0.83059	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.98957	0.9645	H	0.97214	3.96	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	0.99316	1.0905	10	0.87932	D	0	.	19.4987	0.95085	0.0:1.0:0.0:0.0	.	257;364;440	Q68DU9;Q6N018;Q9P2G9	.;.;KLHL8_HUMAN	L	440;364;257;89;440	ENSP00000273963:W440L;ENSP00000426451:W364L;ENSP00000408854:W257L;ENSP00000439514:W89L;ENSP00000424131:W440L	ENSP00000273963:W440L	W	-	2	0	KLHL8	88310681	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.401000	0.79962	2.609000	0.88269	0.460000	0.39030	TGG		0.423	KLHL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253040.1			A	88091657	C	A	88091657	3	1	785	1	0	0	0	0	1	0	0	0	8397	595	21	4	559	4	KLHL8	4	88091657	Missense_Mutation	SNP	C	TCGA-SX-A71U-01A-12D-A33Q-10	47651653	88091657	103062619	30	46573											
KIAA1109	84162	hgsc.bcm.edu	37	4	123277058	123277059	+	Frame_Shift_Ins	INS	-	-	A			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr4:123277058_123277059insA	ENST00000264501.4	+	83	14786_14787	c.14413_14414insA	c.(14413-14415)gaafs	p.E4805fs	KIAA1109_ENST00000388738.3_Frame_Shift_Ins_p.E4805fs			Q2LD37	K1109_HUMAN	KIAA1109	4805					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						CTACAACCATGAAACAGAGACT	0.396																																																0																																										SO:0001589	frameshift_variant	84162			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.14416dupA	chr4.hg19:g.123277061_123277061dupA	ENSP00000264501:p.Glu4805fs		Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Frame_Shift_Ins	INS	ENST00000264501.4	hg19	CCDS43267.1																																																																																				0.396	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		A	123277059	-	A	123277058	7	5	785	1	0	1	1	0	0	0	0	0	8210	1291	45	0	14735	0	KIAA1109	4	123277058	Frame_Shift_Ins	INS	-	TCGA-SX-A71U-01A-12D-A33Q-10	35185401	123277058	67877218	31	46574											
ETFDH	2110	hgsc.bcm.edu	37	4	159627888	159627888	+	Missense_Mutation	SNP	G	G	T			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr4:159627888G>T	ENST00000511912.1	+	12	1908	c.1576G>T	c.(1576-1578)Ggt>Tgt	p.G526C	ETFDH_ENST00000307738.5_Missense_Mutation_p.G479C	NM_001281738.1|NM_004453.2	NP_001268667.1|NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	526					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)		GGCTCTGAGTGGTACTAATCA	0.468																																																0													170	162	164					4																	159627888		2203	4300	6503	SO:0001583	missense	2110			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.1576G>T	chr4.hg19:g.159627888G>T	ENSP00000426638:p.Gly526Cys		B4E3R9|J3KND9|Q7Z347	Missense_Mutation	SNP	ENST00000511912.1	hg19	CCDS3800.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.348293	0.82132	.	.	ENSG00000171503	ENST00000511912;ENST00000307738	D;D	0.91577	-2.87;-2.87	5.64	4.8	0.61643	.	0.000000	0.85682	D	0.000000	D	0.96895	0.8986	H	0.96805	3.885	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	0.97943	1.0327	10	0.87932	D	0	0.4172	14.4099	0.67109	0.0711:0.0:0.9289:0.0	.	479;465;526	B4E3R9;B4DEQ0;Q16134	.;.;ETFD_HUMAN	C	526;479	ENSP00000426638:G526C;ENSP00000303552:G479C	ENSP00000303552:G479C	G	+	1	0	ETFDH	159847338	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	1.380000	0.46344	0.591000	0.81541	GGT		0.468	ETFDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365718.2			T	159627888	G	T	159627888	3	4	785	1	0	0	0	0	1	0	0	0	5273	1348	47	4	1622	4	ETFDH	4	159627888	Missense_Mutation	SNP	G	TCGA-SX-A71U-01A-12D-A33Q-10	36350830	159627888	31526388	32	46575											
GALNT7	51809	hgsc.bcm.edu	37	4	174213365	174213365	+	Missense_Mutation	SNP	A	A	C			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr4:174213365A>C	ENST00000265000.4	+	3	777	c.694A>C	c.(694-696)Aaa>Caa	p.K232Q	GALNT7_ENST00000512285.1_Missense_Mutation_p.K232Q|GALNT7_ENST00000502407.1_3'UTR	NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	polypeptide N-acetylgalactosaminyltransferase 7	232	Catalytic subdomain A.				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 (GO:0006493)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		CAGTGTAATTAAAAGGACTCC	0.353																																																0													87	93	91					4																	174213365		2203	4300	6503	SO:0001583	missense	51809			AJ002744	CCDS3815.1	4q31.1	2014-03-13	2014-03-13		ENSG00000109586	ENSG00000109586		"Glycosyltransferase family 2 domain containing"	4129	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 7"	605005	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)"			10544240	Standard	NM_017423		Approved	GALNAC-T7	uc003isz.4	Q86SF2	OTTHUMG00000160817	ENST00000265000.4:c.694A>C	chr4.hg19:g.174213365A>C	ENSP00000265000:p.Lys232Gln		B3KQU3|Q7Z5W7|Q9UJ28	Missense_Mutation	SNP	ENST00000265000.4	hg19	CCDS3815.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	26.3|26.3	4.724413|4.724413	0.89298|0.89298	.|.	.|.	ENSG00000109586|ENSG00000109586	ENST00000265000;ENST00000512285;ENST00000458613|ENST00000505308	T;T|.	0.61980|.	0.06;0.06|.	5.77|5.77	5.77|5.77	0.91146|0.91146	Glycosyl transferase, family 2 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.59459|0.59459	0.2195|0.2195	L|L	0.37897|0.37897	1.145|1.145	0.80722|0.80722	D|D	1|1	D;D|.	0.71674|.	0.971;0.998|.	P;D|.	0.68621|.	0.893;0.959|.	T|T	0.55289|0.55289	-0.8164|-0.8164	10|5	0.54805|.	T|.	0.06|.	.|.	16.3948|16.3948	0.83586|0.83586	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	9;232|.	B4DIB4;Q86SF2|.	.;GALT7_HUMAN|.	Q|F	232;232;9|28	ENSP00000265000:K232Q;ENSP00000427050:K232Q|.	ENSP00000265000:K232Q|.	K|L	+|+	1|3	0|2	GALNT7|GALNT7	174449940|174449940	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.339000|9.339000	0.96797|0.96797	2.326000|2.326000	0.78906|0.78906	0.533000|0.533000	0.62120|0.62120	AAA|TTA		0.353	GALNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362456.2	NM_017423		C	174213365	A	C	174213365	3	2	785	1	0	0	0	0	1	0	0	0	6220	363	13	5	704	5	GALNT7	4	174213365	Missense_Mutation	SNP	A	TCGA-SX-A71U-01A-12D-A33Q-10	14585477	174213365	16940911	33	46576											
NIPBL	25836	hgsc.bcm.edu	37	5	37024711	37024728	+	In_Frame_Del	DEL	AGAGTAATAAAGATTCTC	AGAGTAATAAAGATTCTC	-			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	AGAGTAATAAAGATTCTC	AGAGTAATAAAGATTCTC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr5:37024711_37024728delAGAGTAATAAAGATTCTC	ENST00000282516.8	+	30	6098_6115	c.5599_5616delAGAGTAATAAAGATTCTC	c.(5599-5616)agagtaataaagattctcdel	p.RVIKIL1867del	NIPBL_ENST00000448238.2_In_Frame_Del_p.RVIKIL1867del	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1867					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)			TGTCAGGAAAAGAGTAATAAAGATTCTCAGAGACATTT	0.326																																																0			GRCh37	CM073229	NIPBL	M																																				SO:0001651	inframe_deletion	25836			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"sister chromatid cohesion 2 homolog (yeast)"	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.5599_5616delAGAGTAATAAAGATTCTC	chr5.hg19:g.37024711_37024728delAGAGTAATAAAGATTCTC	ENSP00000282516:p.Arg1867_Leu1872del		Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	In_Frame_Del	DEL	ENST00000282516.8	hg19	CCDS3920.1																																																																																				0.326	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		-	37024728	AGAGTAATAAAGATTCTC	-	37024711	7	5	785	1	0	1	0	1	0	0	0	0	10430	64	3	0	5713	0	NIPBL	5	37024711	In_Frame_Del	DEL	AGAGTAATAAAGATTCTC	TCGA-SX-A71U-01A-12D-A33Q-10		37024711	143890549	34	46577											
PPIP5K2	23262	hgsc.bcm.edu	37	5	102509564	102509564	+	Missense_Mutation	SNP	A	A	G			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr5:102509564A>G	ENST00000358359.3	+	21	2926	c.2417A>G	c.(2416-2418)tAt>tGt	p.Y806C	PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000321521.9_Missense_Mutation_p.Y806C|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.Y806C	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	806					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						AATTTTAGGTATTCTAGAGGT	0.303																																																0													131	126	128					5																	102509564		2202	4299	6501	SO:0001583	missense	23262			AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"histidine acid phosphatase domain containing 1"	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.2417A>G	chr5.hg19:g.102509564A>G	ENSP00000351126:p.Tyr806Cys		A1NI53|A6NGS8|Q8TB50	Missense_Mutation	SNP	ENST00000358359.3	hg19		.	.	.	.	.	.	.	.	.	.	A	22.0	4.224670	0.79576	.	.	ENSG00000145725	ENST00000321521;ENST00000358359;ENST00000451606;ENST00000414217;ENST00000509597	T;T;T;T	0.27256	2.35;2.34;2.35;1.68	6.05	6.05	0.98169	.	0.000000	0.64402	D	0.000003	T	0.57007	0.2024	M	0.84948	2.725	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.79108	0.992;0.973;0.984	T	0.63198	-0.6691	10	0.72032	D	0.01	.	16.5993	0.84807	1.0:0.0:0.0:0.0	.	806;806;806	E9PGM8;O43314-2;O43314	.;.;VIP2_HUMAN	C	806;806;806;806;80	ENSP00000313070:Y806C;ENSP00000351126:Y806C;ENSP00000416016:Y806C;ENSP00000424948:Y80C	ENSP00000313070:Y806C	Y	+	2	0	PPIP5K2	102537463	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	9.335000	0.96500	2.311000	0.77944	0.528000	0.53228	TAT		0.303	PPIP5K2-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370487.1	NM_015216		G	102509564	A	G	102509564	3	3	785	1	0	0	0	0	1	0	0	0	12338	449	16	3	2495	3	PPIP5K2	5	102509564	Missense_Mutation	SNP	A	TCGA-SX-A71U-01A-12D-A33Q-10	65484853	102509564	78405696	35	46578											
IK	3550	hgsc.bcm.edu	37	5	140034273	140034273	+	Nonsense_Mutation	SNP	G	G	T			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr5:140034273G>T	ENST00000417647.2	+	8	737	c.598G>T	c.(598-600)Gag>Tag	p.E200*		NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	IK cytokine, down-regulator of HLA II	200					cell-cell signaling (GO:0007267)|immune response (GO:0006955)	extracellular space (GO:0005615)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGAAAGATGAGGATCCTGA	0.318																																																0													47	45	46					5																	140034273		1814	4070	5884	SO:0001587	stop_gained	3550			BC051295	CCDS47280.1	5q31.3	2008-08-07			ENSG00000113141	ENSG00000113141			5958	protein-coding gene	gene with protein product		600549				7970704	Standard	NM_006083		Approved		uc003lgq.3	Q13123	OTTHUMG00000163374	ENST00000417647.2:c.598G>T	chr5.hg19:g.140034273G>T	ENSP00000396301:p.Glu200*		Q6IPD8	Nonsense_Mutation	SNP	ENST00000417647.2	hg19	CCDS47280.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.300878	0.81136	.	.	ENSG00000113141	ENST00000417647;ENST00000508301;ENST00000261812;ENST00000502899	.	.	.	5.92	5.92	0.95590	.	0.044646	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	.	19.9276	0.97108	0.0:0.0:1.0:0.0	.	.	.	.	X	200	.	ENSP00000261812:E200X	E	+	1	0	IK	140014457	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.605000	0.98321	2.805000	0.96524	0.655000	0.94253	GAG		0.318	IK-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372897.1	NM_006083		T	140034273	G	T	140034273	4	4	785	1	0	0	0	0	0	1	0	0	7610	1291	45	4	628	4	IK	5	140034273	Nonsense_Mutation	SNP	G	TCGA-SX-A71U-01A-12D-A33Q-10	37524709	140034273	40880987	36	46579											
HIVEP1	3096	hgsc.bcm.edu	37	6	12125716	12125716	+	Frame_Shift_Del	DEL	G	G	-			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr6:12125716delG	ENST00000379388.2	+	4	6020	c.5688delG	c.(5686-5688)aagfs	p.K1896fs	HIVEP1_ENST00000541134.1_5'Flank	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1896					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)				AAGAAAGGAAGTCTCCAGGGG	0.398																																																0													55	52	53					6																	12125716		1848	4081	5929	SO:0001589	frameshift_variant	3096			J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"Zinc fingers, C2H2-type"	4920	protein-coding gene	gene with protein product		194540	"human immunodeficiency virus type I enhancer-binding protein 1", "zinc finger protein 40"	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.5688delG	chr6.hg19:g.12125716delG	ENSP00000368698:p.Lys1896fs		B2RTU3|Q14122|Q5MPB1|Q5VW60	Frame_Shift_Del	DEL	ENST00000379388.2	hg19	CCDS43426.1																																																																																				0.398	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		-	12125716	G	-	12125716	7	5	785	1	0	1	0	1	0	0	0	0	7188	1020	36	0	5698	0	HIVEP1	6	12125716	Frame_Shift_Del	DEL	G	TCGA-SX-A71U-01A-12D-A33Q-10		12125716	158989351	37	46580											
RANBP9	10048	hgsc.bcm.edu	37	6	13639868	13639868	+	Silent	SNP	T	T	C			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr6:13639868T>C	ENST00000011619.3	-	9	1510	c.1452A>G	c.(1450-1452)ccA>ccG	p.P484P	RANBP9_ENST00000539980.1_Silent_p.P255P	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	484					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)			GGCTCATACTTGGACTACTAA	0.413																																																0													140	126	131					6																	13639868		2203	4300	6503	SO:0001819	synonymous_variant	10048			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.1452A>G	chr6.hg19:g.13639868T>C			A0PJA2|B2R8E1|O94764|Q6P3T7|Q7LBR2|Q7Z7F9	Silent	SNP	ENST00000011619.3	hg19	CCDS4529.1																																																																																				0.413	RANBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042373.1			C	13639868	T	C	13639868	2	2	785	1	0	0	0	0	0	0	0	1	13038	1799	63	3		3	RANBP9	6	13639868	Silent	SNP	T	TCGA-SX-A71U-01A-12D-A33Q-10	1514152	13639868	157475199	38	46581											
FAM8A1	51439	hgsc.bcm.edu	37	6	17601243	17601243	+	Silent	SNP	C	C	A			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr6:17601243C>A	ENST00000259963.3	+	1	658	c.603C>A	c.(601-603)ggC>ggA	p.G201G		NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	201						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			CAGTCGCGGGCCTGGGACCCC	0.716																																																0													4	5	5					6																	17601243		1915	3803	5718	SO:0001819	synonymous_variant	51439			AF097027	CCDS4540.1	6p23	2010-11-22			ENSG00000137414	ENSG00000137414			16372	protein-coding gene	gene with protein product						11707071	Standard	NM_016255		Approved	AHCP	uc003ncc.3	Q9UBU6	OTTHUMG00000014309	ENST00000259963.3:c.603C>A	chr6.hg19:g.17601243C>A			B2R725	Silent	SNP	ENST00000259963.3	hg19	CCDS4540.1																																																																																				0.716	FAM8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039950.1			A	17601243	C	A	17601243	2	1	785	1	0	0	0	0	0	0	0	1	5651	726	26	4		4	FAM8A1	6	17601243	Silent	SNP	C	TCGA-SX-A71U-01A-12D-A33Q-10	3961375	17601243	153513824	39	46582											
KDM1B	221656	hgsc.bcm.edu	37	6	18166565	18166565	+	Missense_Mutation	SNP	C	C	G			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr6:18166565C>G	ENST00000297792.5	+	6	550	c.373C>G	c.(373-375)Cct>Gct	p.P125A	KDM1B_ENST00000388870.2_Missense_Mutation_p.P125A|KDM1B_ENST00000397244.1_Missense_Mutation_p.P125A|KDM1B_ENST00000546309.2_Intron			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	125					DNA methylation involved in gamete generation (GO:0043046)|histone H3-K4 demethylation (GO:0034720)|multicellular organismal development (GO:0007275)|regulation of DNA methylation (GO:0044030)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-monomethyl-K4 specific) (GO:0034649)|oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						CAAAACCGAACCTAGTCCCAA	0.398																																																0													108	103	105					6																	18166565		2203	4300	6503	SO:0001583	missense	221656			AK125318	CCDS34343.1	6p22.3	2011-07-01	2009-09-29	2009-09-29	ENSG00000165097	ENSG00000165097		"Chromatin-modifying enzymes / K-demethylases"	21577	protein-coding gene	gene with protein product		613081	"amine oxidase, flavin containing 1", "chromosome 6 open reading frame 193", "amine oxidase (flavin containing) domain 1"	C6orf193, AOF1		19407342, 19727073	Standard	NM_153042		Approved	FLJ34109, FLJ33898, dJ298J15.2, bA204B7.3, FLJ43328, LSD2	uc003ncn.1	Q8NB78	OTTHUMG00000014316	ENST00000297792.5:c.373C>G	chr6.hg19:g.18166565C>G	ENSP00000297792:p.Pro125Ala		A2A2C5|A2A2C6|Q5TGV3|Q6AI15|Q6ZUU4|Q8N258|Q96EL7	Missense_Mutation	SNP	ENST00000297792.5	hg19	CCDS34343.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.726252	0.48833	.	.	ENSG00000165097	ENST00000388870;ENST00000397244;ENST00000297792;ENST00000388869	T;T;T	0.40225	1.38;1.04;1.04	5.66	5.66	0.87406	.	0.000000	0.56097	U	0.000024	T	0.47948	0.1473	L	0.35723	1.085	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.14980	-1.0453	10	0.29301	T	0.29	-3.916	20.1253	0.97977	0.0:1.0:0.0:0.0	.	125	A2A2C6	.	A	125	ENSP00000373522:P125A;ENSP00000380419:P125A;ENSP00000297792:P125A	ENSP00000297792:P125A	P	+	1	0	KDM1B	18274544	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.152000	0.77419	2.832000	0.97577	0.655000	0.94253	CCT		0.398	KDM1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277080.1	NM_153042		G	18166565	C	G	18166565	3	3	785	1	0	0	0	0	1	0	0	0	8125	507	18	4	387	4	KDM1B	6	18166565	Missense_Mutation	SNP	C	TCGA-SX-A71U-01A-12D-A33Q-10	565322	18166565	152948502	40	46583											
HIST1H2BB	3018	hgsc.bcm.edu	37	6	26043884	26043884	+	Splice_Site	SNP	A	A	G			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr6:26043884A>G	ENST00000357905.2	-	1	1	c.2T>C	c.(1-3)aTg>aCg	p.M1T	HIST1H3C_ENST00000540144.1_5'Flank	NM_021062.2	NP_066406.1	P33778	H2B1B_HUMAN	histone cluster 1, H2bb	1					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						GGGTTCAGGCATTGCTATTCC	0.453																																																0													50	51	50					6																	26043884		2203	4300	6503	SO:0001630	splice_region_variant	3018			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.0-1T>C	chr6.hg19:g.26043884A>G			Q4KN36	Missense_Mutation	SNP	ENST00000357905.2	hg19	CCDS4575.1	.	.	.	.	.	.	.	.	.	.	A	11.00	1.510401	0.27036	.	.	ENSG00000196226	ENST00000357905	T	0.18960	2.18	5.34	5.34	0.76211	.	0.000000	0.64402	U	0.000001	T	0.34861	0.0912	.	.	.	0.80722	D	1	D	0.55800	0.973	P	0.61201	0.885	T	0.22034	-1.0228	9	0.87932	D	0	.	14.7798	0.69756	1.0:0.0:0.0:0.0	.	1	P33778	H2B1B_HUMAN	T	1	ENSP00000350580:M1T	ENSP00000350580:M1T	M	-	2	0	HIST1H2BB	26151863	1.000000	0.71417	0.975000	0.42487	0.004000	0.04260	7.131000	0.77243	2.126000	0.65437	0.533000	0.62120	ATG		0.453	HIST1H2BB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040083.1	NM_021062	Missense_Mutation	G	26043884	A	G	26043884	5	3	785	1	0	0	0	0	0	0	1	0	7143	231	8	3	382	3	HIST1H2BB	6	26043884	Splice_Site	SNP	A	TCGA-SX-A71U-01A-12D-A33Q-10	7877319	26043884	145071183	41	46584											
ZNF391	346157	hgsc.bcm.edu	37	6	27368767	27368767	+	Silent	SNP	T	T	C			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr6:27368767T>C	ENST00000244576.4	+	3	1163	c.618T>C	c.(616-618)acT>acC	p.T206T		NM_001076781.1	NP_001070249.1	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	206					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)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						GCCGAAGCACTAACCTTAGTC	0.423																																																0													71	75	73					6																	27368767		2193	4298	6491	SO:0001819	synonymous_variant	346157			BC132797	CCDS43429.1	6p21	2013-01-08			ENSG00000124613	ENSG00000124613		"Zinc fingers, C2H2-type"	18779	protein-coding gene	gene with protein product							Standard	NM_001076781		Approved	dJ153G14.3	uc003njf.1	Q9UJN7	OTTHUMG00000014477	ENST00000244576.4:c.618T>C	chr6.hg19:g.27368767T>C			B4DH77	Silent	SNP	ENST00000244576.4	hg19	CCDS43429.1																																																																																				0.423	ZNF391-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040145.2	NM_001076781		C	27368767	T	C	27368767	2	2	785	1	0	0	0	0	0	0	0	1	17884	1509	53	3		3	ZNF391	6	27368767	Silent	SNP	T	TCGA-SX-A71U-01A-12D-A33Q-10	1324883	27368767	143746300	42	46585											
SLC22A7	10864	hgsc.bcm.edu	37	6	43266308	43266308	+	Missense_Mutation	SNP	G	G	T			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr6:43266308G>T	ENST00000372585.5	+	1	307	c.212G>T	c.(211-213)cGg>cTg	p.R71L	SLC22A7_ENST00000487175.1_Intron|SLC22A7_ENST00000372574.3_Missense_Mutation_p.R71L|SLC22A7_ENST00000372589.3_Missense_Mutation_p.R71L	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	71					organic anion transport (GO:0015711)|response to stilbenoid (GO:0035634)|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)	p.R71Q(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		Acetylsalicylic acid(DB00945)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cimetidine(DB00501)|Clarithromycin(DB01211)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Docetaxel(DB01248)|Enalapril(DB00584)|Erythromycin(DB00199)|Fluorouracil(DB00544)|Ganciclovir(DB01004)|Glyburide(DB01016)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Oxtriphylline(DB01303)|Oxytetracycline(DB00595)|Pravastatin(DB00175)|Probenecid(DB01032)|Rifampicin(DB01045)|Salicylic acid(DB00936)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Valproic Acid(DB00313)|Zalcitabine(DB00943)|Zidovudine(DB00495)	CATCTTCCCCGGGAGCCTGAT	0.662																																																1	Substitution - Missense(1)	lung(1)											45	42	43					6																	43266308		2203	4300	6503	SO:0001583	missense	10864			AF097518	CCDS4892.1, CCDS4893.2	6p21.1	2013-05-22			ENSG00000137204	ENSG00000137204		"Solute carriers"	10971	protein-coding gene	gene with protein product		604995				9650585, 10773670	Standard	XM_006714970		Approved	NLT, OAT2	uc003out.3	Q9Y694	OTTHUMG00000014726	ENST00000372585.5:c.212G>T	chr6.hg19:g.43266308G>T	ENSP00000361666:p.Arg71Leu		B2CZX6|Q5T046|Q5T048|Q5T050|Q9H2W5	Missense_Mutation	SNP	ENST00000372585.5	hg19	CCDS4893.2	.	.	.	.	.	.	.	.	.	.	G	9.154	1.017095	0.19355	.	.	ENSG00000137204	ENST00000449231;ENST00000372589;ENST00000372585;ENST00000372574	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	5.63	0.872	0.19113	.	0.276047	0.36409	N	0.002603	T	0.12475	0.0303	L	0.28115	0.83	0.36271	D	0.855183	B;B;B	0.14438	0.006;0.01;0.01	B;B;B	0.18263	0.016;0.021;0.021	T	0.32719	-0.9896	10	0.02654	T	1	.	8.7559	0.34645	0.4671:0.0:0.5329:0.0	.	71;71;71	Q9Y694;Q9Y694-2;Q9Y694-3	S22A7_HUMAN;.;.	L	71	ENSP00000411818:R71L;ENSP00000361670:R71L;ENSP00000361666:R71L;ENSP00000361655:R71L	ENSP00000361655:R71L	R	+	2	0	SLC22A7	43374286	0.000000	0.05858	0.848000	0.33437	0.486000	0.33341	-0.458000	0.06737	-0.127000	0.11661	-0.253000	0.11424	CGG		0.662	SLC22A7-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040588.1			T	43266308	G	T	43266308	3	4	785	1	0	0	0	0	1	0	0	0	14465	1116	39	4	214	4	SLC22A7	6	43266308	Missense_Mutation	SNP	G	TCGA-SX-A71U-01A-12D-A33Q-10	15897541	43266308	127848759	43	46586											
DDO	8528	hgsc.bcm.edu	37	6	110726039	110726039	+	Silent	SNP	A	A	G			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr6:110726039A>G	ENST00000368924.3	-	4	495	c.480T>C	c.(478-480)ttT>ttC	p.F160F	DDO_ENST00000368923.3_Intron	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase	132					aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|D-amino acid catabolic process (GO:0019478)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insemination (GO:0007320)|oxidation-reduction process (GO:0055114)	peroxisome (GO:0005777)	cofactor binding (GO:0048037)|D-aspartate oxidase activity (GO:0008445)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		AAGCCTGACCAAACACATACT	0.483																																																0													99	88	91					6																	110726039		2203	4300	6503	SO:0001819	synonymous_variant	8528			D89858	CCDS5082.1, CCDS5083.1	6q22.1	2008-02-05			ENSG00000203797	ENSG00000203797	1.4.3.1		2727	protein-coding gene	gene with protein product		124450				9163533	Standard	NM_003649		Approved		uc003puc.3	Q99489	OTTHUMG00000015360	ENST00000368924.3:c.480T>C	chr6.hg19:g.110726039A>G			A8KAG4|Q5JXM4|Q5JXM5|Q5JXM6|Q8N552	Silent	SNP	ENST00000368924.3	hg19	CCDS5082.1																																																																																				0.483	DDO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041796.1			G	110726039	A	G	110726039	2	3	785	1	0	0	0	0	0	0	0	1	4336	127	5	3		3	DDO	6	110726039	Silent	SNP	A	TCGA-SX-A71U-01A-12D-A33Q-10	67459731	110726039	60389028	44	46587											
NUP43	348995	hgsc.bcm.edu	37	6	150059828	150059828	+	Frame_Shift_Del	DEL	T	T	-			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr6:150059828delT	ENST00000340413.2	-	5	665	c.589delA	c.(589-591)atafs	p.I197fs	NUP43_ENST00000460354.2_Frame_Shift_Del_p.I197fs|NUP43_ENST00000367403.3_Intron|NUP43_ENST00000367404.4_Intron	NM_198887.1	NP_942590.1	Q8NFH3	NUP43_HUMAN	nucleoporin 43kDa	197					carbohydrate metabolic process (GO:0005975)|chromosome segregation (GO:0007059)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|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)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)		AAATCCCATATTTTCAACTGT	0.323																																																0													127	119	122					6																	150059828		2203	4297	6500	SO:0001589	frameshift_variant	348995			AF514997	CCDS5218.1	6q25.1	2013-01-10			ENSG00000120253	ENSG00000120253		"WD repeat domain containing"	21182	protein-coding gene	gene with protein product		608141				12196509	Standard	XM_005266961		Approved	bA350J20.1, FLJ13287	uc003qmz.3	Q8NFH3	OTTHUMG00000015795	ENST00000340413.2:c.589delA	chr6.hg19:g.150059828delT	ENSP00000342262:p.Ile197fs		B4E2F0|Q9H8S0	Frame_Shift_Del	DEL	ENST00000340413.2	hg19	CCDS5218.1																																																																																				0.323	NUP43-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396947.1	NM_198887		-	150059828	T	-	150059828	7	5	785	1	0	1	0	1	0	0	0	0	10767	1493	52	0	569	0	NUP43	6	150059828	Frame_Shift_Del	DEL	T	TCGA-SX-A71U-01A-12D-A33Q-10	39333789	150059828	21055239	45	46588											
C6orf97	80129	hgsc.bcm.edu	37	6	151907203	151907203	+	Silent	SNP	C	C	T			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr6:151907203C>T	ENST00000239374.7	+	7	1371	c.1272C>T	c.(1270-1272)aaC>aaT	p.N424N	CCDC170_ENST00000367290.5_Silent_p.N424N	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	424																	TGCGAGACAACTTGAATTTTG	0.433																																																0													60	60	60					6																	151907203		1880	4125	6005	SO:0001819	synonymous_variant	80129			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.1272C>T	chr6.hg19:g.151907203C>T			Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Silent	SNP	ENST00000239374.7	hg19	CCDS43515.1																																																																																				0.433	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2	NM_025059		T	151907203	C	T	151907203	2	4	785	1	0	0	0	0	0	0	0	1	2376	564	20	2		2	C6orf97	6	151907203	Silent	SNP	C	TCGA-SX-A71U-01A-12D-A33Q-10	1847375	151907203	19207864	46	46589											
MAS1	4142	hgsc.bcm.edu	37	6	160328746	160328746	+	Missense_Mutation	SNP	G	G	T			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr6:160328746G>T	ENST00000252660.4	+	1	773	c.759G>T	c.(757-759)gaG>gaT	p.E253D		NM_002377.2	NP_002368.1	P04201	MAS_HUMAN	MAS1 proto-oncogene, G protein-coupled receptor	253					activation of NF-kappaB-inducing kinase activity (GO:0007250)|anatomical structure morphogenesis (GO:0009653)|cell proliferation (GO:0008283)|cellular response to peptide hormone stimulus (GO:0071375)|G-protein coupled receptor signaling pathway (GO:0007186)|hippocampus development (GO:0021766)|male gonad development (GO:0008584)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of inositol phosphate biosynthetic process (GO:0060732)|protein kinase C signaling (GO:0070528)|regulation of inflammatory response (GO:0050727)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	angiotensin receptor activity (GO:0001595)|angiotensin type II receptor activity (GO:0004945)|G-protein coupled receptor activity (GO:0004930)|peptide binding (GO:0042277)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)		TGTACTATGAGTATTGGTCGA	0.448																																																0													133	123	126					6																	160328746		2203	4300	6503	SO:0001583	missense	4142			M13150	CCDS5272.1	6q24-q27	2014-06-26	2014-06-26		ENSG00000130368	ENSG00000130368		"GPCR / Class A : Orphans"	6899	protein-coding gene	gene with protein product		165180	"MAS1 oncogene"				Standard	NM_002377		Approved		uc003qsz.3	P04201	OTTHUMG00000015944	ENST00000252660.4:c.759G>T	chr6.hg19:g.160328746G>T	ENSP00000252660:p.Glu253Asp		E1P5B3|Q2TBC9|Q6FG47	Missense_Mutation	SNP	ENST00000252660.4	hg19	CCDS5272.1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.843115	0.32606	.	.	ENSG00000130368	ENST00000252660	T	0.37058	1.22	5.2	5.2	0.72013	GPCR, rhodopsin-like superfamily (1);	0.272836	0.26103	N	0.026338	T	0.17238	0.0414	L	0.39898	1.24	0.34753	D	0.731961	P	0.34615	0.459	B	0.34590	0.186	T	0.08432	-1.0722	10	0.35671	T	0.21	.	12.3072	0.54908	0.0:0.1845:0.8155:0.0	.	253	P04201	MAS_HUMAN	D	253	ENSP00000252660:E253D	ENSP00000252660:E253D	E	+	3	2	MAS1	160248736	0.678000	0.27586	0.981000	0.43875	0.612000	0.37316	0.732000	0.26072	2.407000	0.81776	0.655000	0.94253	GAG		0.448	MAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042930.2	NM_002377		T	160328746	G	T	160328746	3	4	785	1	0	0	0	0	1	0	0	0	9322	1020	36	4	761	4	MAS1	6	160328746	Missense_Mutation	SNP	G	TCGA-SX-A71U-01A-12D-A33Q-10	8421543	160328746	10786321	47	46590											
IGF2BP3	10643	hgsc.bcm.edu	37	7	23352352	23352353	+	Splice_Site	DNP	GC	GC	AT			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr7:23352352_23352353GC>AT	ENST00000258729.3	-	14	1998		c.e14+1			NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3						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						GAGCCCACTTGCCTGGCAAGCA	0.431																																																0																																										SO:0001630	splice_region_variant	10643			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.1642_1642delinsAT	chr7.hg19:g.23352352_23352353delinsAT			A0A4Z5|Q63HM0|Q6MZZ2|Q86VB1	Splice_Site	SNP	ENST00000258729.3	hg19	CCDS5382.1																																																																																				0.431	IGF2BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250243.2	NM_006547	Intron	AT	23352353	GC	AT	23352352	5	1	785	1	0	0	0	0	0	0	1	0	7577	1333	46	2	104	2	IGF2BP3	7	23352352	Splice_Site	DNP	GC	TCGA-SX-A71U-01A-12D-A33Q-10		23352352	135786311	48	46591											
GATS	352954	hgsc.bcm.edu	37	7	99821281	99821281	+	Missense_Mutation	SNP	G	G	A			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr7:99821281G>A	ENST00000436886.2	-	4	700	c.452C>T	c.(451-453)tCa>tTa	p.S151L	GATS_ENST00000543273.1_RNA	NM_178831.6	NP_849153.3	Q8NAP1	GATS_HUMAN	GATS, stromal antigen 3 opposite strand	151										endometrium(2)|large_intestine(2)|lung(4)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAACTCTGATGACAACGTGTG	0.607																																																0													205	216	212					7																	99821281		2134	4232	6366	SO:0001583	missense	352954			AK095056	CCDS43621.1	7q22.1	2014-08-13	2009-04-08	2009-04-08	ENSG00000160844	ENSG00000239521			29954	protein-coding gene	gene with protein product	"stromal antigen 3 opposite strand"					12477932	Standard	NM_178831		Approved	DKFZp686B07267, STAG3OS	uc003uua.4	Q8NAP1	OTTHUMG00000155289	ENST00000436886.2:c.452C>T	chr7.hg19:g.99821281G>A	ENSP00000389760:p.Ser151Leu		D6W5V0|Q68D93|Q6P198|Q6PII7|Q7Z720|Q86UK9	Missense_Mutation	SNP	ENST00000436886.2	hg19	CCDS43621.1	.	.	.	.	.	.	.	.	.	.	g	13.87	2.367175	0.41902	.	.	ENSG00000160844	ENST00000436886	.	.	.	1.56	1.56	0.23342	.	0.216774	0.39687	N	0.001293	T	0.31136	0.0787	N	0.12182	0.205	0.35791	D	0.822377	B	0.17038	0.02	B	0.22152	0.038	T	0.23332	-1.0191	9	0.37606	T	0.19	.	9.1169	0.36764	0.0:0.0:1.0:0.0	.	151	Q8NAP1	GATS_HUMAN	L	151	.	ENSP00000389760:S151L	S	-	2	0	GATS	99659217	1.000000	0.71417	0.999000	0.59377	0.322000	0.28314	7.487000	0.81328	0.787000	0.33731	0.173000	0.16961	TCA		0.607	GATS-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178831		A	99821281	G	A	99821281	3	1	785	1	0	0	0	0	1	0	0	0	6266	1294	45	2	43	2	GATS	7	99821281	Missense_Mutation	SNP	G	TCGA-SX-A71U-01A-12D-A33Q-10	76468929	99821281	59317382	49	46592											
SRRT	51593	hgsc.bcm.edu	37	7	100482162	100482162	+	Missense_Mutation	SNP	G	G	A			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr7:100482162G>A	ENST00000347433.4	+	7	1089	c.931G>A	c.(931-933)Gac>Aac	p.D311N	SRRT_ENST00000432932.1_Missense_Mutation_p.D311N|SRRT_ENST00000457580.2_Missense_Mutation_p.D311N|SRRT_ENST00000388793.4_Missense_Mutation_p.D311N			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	311	Glu-rich.			D -> Y (in Ref. 4; BAG64018). {ECO:0000305}.	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						GAAGAAGGAAGACGGCAAGCA	0.627																																																0													47	48	48					7																	100482162		2198	4300	6498	SO:0001583	missense	51593				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.931G>A	chr7.hg19:g.100482162G>A	ENSP00000314491:p.Asp311Asn		A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Missense_Mutation	SNP	ENST00000347433.4	hg19	CCDS34709.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.414782	0.42817	.	.	ENSG00000087087	ENST00000457580;ENST00000388793;ENST00000432932;ENST00000347433	T;T	0.16597	2.33;2.33	3.91	3.91	0.45181	.	0.380247	0.27031	N	0.021263	T	0.07413	0.0187	N	0.08118	0	0.45567	D	0.998511	P;P;P;B	0.36535	0.557;0.557;0.557;0.421	B;B;B;B	0.30855	0.121;0.121;0.121;0.057	T	0.38824	-0.9643	10	0.21014	T	0.42	.	11.5862	0.50920	0.0:0.0:1.0:0.0	.	311;311;311;311	Q9BXP5-3;Q9BXP5-4;Q9BXP5-2;Q9BXP5	.;.;.;SRRT_HUMAN	N	311	ENSP00000416553:D311N;ENSP00000314491:D311N	ENSP00000314491:D311N	D	+	1	0	SRRT	100320098	1.000000	0.71417	0.972000	0.41901	0.015000	0.08874	3.933000	0.56545	2.203000	0.70933	0.491000	0.48974	GAC		0.627	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	NM_015908		A	100482162	G	A	100482162	3	1	785	1	0	0	0	0	1	0	0	0	15177	942	33	2	953	2	SRRT	7	100482162	Missense_Mutation	SNP	G	TCGA-SX-A71U-01A-12D-A33Q-10	660881	100482162	58656501	50	46593											
C7orf58	79974	hgsc.bcm.edu	37	7	120935571	120935571	+	Silent	SNP	T	T	C			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr7:120935571T>C	ENST00000310396.5	+	23	3413	c.2946T>C	c.(2944-2946)taT>taC	p.Y982Y		NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	982						endoplasmic reticulum (GO:0005783)											TGGGAAGATATTTCAGCAATC	0.323																																																0													82	78	79					7																	120935571		2203	4300	6503	SO:0001819	synonymous_variant	79974				CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 58"	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.2946T>C	chr7.hg19:g.120935571T>C			A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Silent	SNP	ENST00000310396.5	hg19	CCDS34739.1																																																																																				0.323	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1	NM_024913		C	120935571	T	C	120935571	2	2	785	1	0	0	0	0	0	0	0	1	2407	1500	52	3		3	C7orf58	7	120935571	Silent	SNP	T	TCGA-SX-A71U-01A-12D-A33Q-10	20453409	120935571	38203092	51	46594											
DLGAP2	9228	hgsc.bcm.edu	37	8	1626467	1626467	+	Silent	SNP	G	G	T	rs149482724		TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr8:1626467G>T	ENST00000421627.2	+	9	2270	c.2136G>T	c.(2134-2136)acG>acT	p.T712T	DLGAP2_ENST00000524065.1_3'UTR	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	791					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)		ACATCACCACGGAGGACAAAG	0.622																																																0													58	66	63					8																	1626467		2124	4221	6345	SO:0001819	synonymous_variant	9228			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.2136G>T	chr8.hg19:g.1626467G>T			A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Silent	SNP	ENST00000421627.2	hg19	CCDS47760.1	.	.	.	.	.	.	.	.	.	.	G	7.146	0.582724	0.13749	.	.	ENSG00000198010	ENST00000520901	.	.	.	5.09	2.26	0.28386	.	.	.	.	.	T	0.54447	0.1859	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42275	-0.9461	4	.	.	.	-7.5861	6.5711	0.22539	0.0714:0.1308:0.662:0.1358	.	.	.	.	L	715	.	.	R	+	2	0	DLGAP2	1613874	1.000000	0.71417	0.267000	0.24556	0.686000	0.39977	3.695000	0.54749	0.159000	0.19401	-0.321000	0.08615	CGG		0.622	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		T	1626467	G	T	1626467	2	4	785	1	0	0	0	0	0	0	0	1	4562	1103	39	4		4	DLGAP2	8	1626467	Silent	SNP	G	TCGA-SX-A71U-01A-12D-A33Q-10		1626467	144737555	52	46595											
SPAG11B	10407	hgsc.bcm.edu	37	8	7308713	7308713	+	Missense_Mutation	SNP	A	A	G			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr8:7308713A>G	ENST00000297498.2	-	3	389	c.223T>C	c.(223-225)Tct>Cct	p.S75P	SPAG11B_ENST00000528168.1_Missense_Mutation_p.S22P|SPAG11B_ENST00000361111.2_Intron|SPAG11B_ENST00000359758.5_Intron|SPAG11B_ENST00000398462.2_Intron|SPAG11B_ENST00000458665.1_Intron	NM_016512.3	NP_057596.1	Q08648	SG11B_HUMAN	sperm associated antigen 11B	75					spermatogenesis (GO:0007283)	extracellular region (GO:0005576)				large_intestine(2)|lung(3)|urinary_tract(1)	6				COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		TCCCGGTGAGAGATGTGCACT	0.458																																																0													63	77	72					8																	7308713		2080	4188	6268	SO:0001583	missense	10407			AF168616	CCDS5964.1, CCDS5965.1, CCDS5966.1, CCDS5967.1, CCDS47774.1	8p23.1	2014-02-21	2007-03-15	2007-03-15	ENSG00000164871	ENSG00000164871			14534	protein-coding gene	gene with protein product	"epididymal protein 2B"	606560				8167223, 1693137	Standard	NM_058200		Approved	HE2, EP2, EP2C, EP2D, EDDM2B	uc003wrl.3	Q08648	OTTHUMG00000129219	ENST00000297498.2:c.223T>C	chr8.hg19:g.7308713A>G	ENSP00000297498:p.Ser75Pro		E9PFH0|Q546A0|Q6ZYB2|Q9H4P8|Q9H4P9|Q9H4Q0|Q9H4Q1|Q9H4Q2|Q9NRT3|Q9NRV4|Q9NRV5|Q9NRV6|Q9NRV7|Q9NRV8	Missense_Mutation	SNP	ENST00000297498.2	hg19	CCDS5966.1	.	.	.	.	.	.	.	.	.	.	A	9.682	1.149439	0.21288	.	.	ENSG00000164871	ENST00000297498;ENST00000528168	T;T	0.51071	1.18;0.72	2.69	-2.8	0.05823	.	.	.	.	.	T	0.22126	0.0533	N	0.12746	0.255	0.09310	N	1	B;B	0.16603	0.018;0.003	B;B	0.17433	0.018;0.006	T	0.17048	-1.0382	9	0.23891	T	0.37	.	3.1877	0.06607	0.378:0.0:0.4097:0.2123	.	75;22	Q08648;Q08648-2	SG11B_HUMAN;.	P	75;22	ENSP00000297498:S75P;ENSP00000431230:S22P	ENSP00000297498:S75P	S	-	1	0	SPAG11B	7296123	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.320000	0.08028	-0.619000	0.05648	0.373000	0.22412	TCT		0.458	SPAG11B-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251390.2	NM_058202, NM_058200, NM_058201, NM_016512, NM_058203, NM_058206, NM_058207		G	7308713	A	G	7308713	3	3	785	1	0	0	0	0	1	0	0	0	14983	304	11	3	301	3	SPAG11B	8	7308713	Missense_Mutation	SNP	A	TCGA-SX-A71U-01A-12D-A33Q-10	5682246	7308713	139055309	53	46596											
ENTPD4	9583	hgsc.bcm.edu	37	8	23305329	23305329	+	Silent	SNP	C	C	G			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr8:23305329C>G	ENST00000358689.4	-	4	511	c.276G>C	c.(274-276)gtG>gtC	p.V92V	ENTPD4_ENST00000356206.6_Silent_p.V92V|ENTPD4_ENST00000417069.2_Silent_p.V92V	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	92					UDP catabolic process (GO:0006256)	cytoplasmic vesicle (GO:0031410)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)	uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		CACAGTCCACCACGATCCCAT	0.453																																																0													259	200	220					8																	23305329		2203	4300	6503	SO:0001819	synonymous_variant	9583			AJ131358	CCDS6041.1, CCDS47827.1	8p21.3	2014-05-16	2004-09-22	2004-09-22	ENSG00000197217	ENSG00000197217			14573	protein-coding gene	gene with protein product		607577	"lysosomal apyrase-like 1"	LYSAL1		10393803, 9205841	Standard	NM_001128930		Approved	LALP70, LAP70, KIAA0392, NTPDase-4, UDPase	uc003xdl.3	Q9Y227	OTTHUMG00000097852	ENST00000358689.4:c.276G>C	chr8.hg19:g.23305329C>G			D3DSS3|O15092	Silent	SNP	ENST00000358689.4	hg19	CCDS6041.1																																																																																				0.453	ENTPD4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215142.1	NM_004901		G	23305329	C	G	23305329	2	3	785	1	0	0	0	0	0	0	0	1	5143	581	21	4		4	ENTPD4	8	23305329	Silent	SNP	C	TCGA-SX-A71U-01A-12D-A33Q-10	15996616	23305329	123058693	54	46597											
ZNF395	55893	hgsc.bcm.edu	37	8	28206326	28206326	+	Missense_Mutation	SNP	C	C	G			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr8:28206326C>G	ENST00000344423.5	-	10	1583	c.1452G>C	c.(1450-1452)aaG>aaC	p.K484N	ZNF395_ENST00000523095.1_Missense_Mutation_p.K484N|ZNF395_ENST00000523202.1_Missense_Mutation_p.K484N	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	484					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)			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		TGCGGCACTTCTTAGCCTCCC	0.627																																																0													63	60	61					8																	28206326		2203	4300	6503	SO:0001583	missense	55893			AB044750	CCDS6067.1	8p21	2008-05-02			ENSG00000186918	ENSG00000186918		"Zinc fingers, C2H2-type"	18737	protein-coding gene	gene with protein product		609494				14625278	Standard	NM_018660		Approved	PRF-1, HDBP2, PBF, DKFZp434K1210	uc003xgr.3	Q9H8N7	OTTHUMG00000102137	ENST00000344423.5:c.1452G>C	chr8.hg19:g.28206326C>G	ENSP00000340494:p.Lys484Asn		B3KUY7|D3DST4|Q6F6H2|Q9BY72|Q9NPB2|Q9NS57|Q9NS58|Q9NS59	Missense_Mutation	SNP	ENST00000344423.5	hg19	CCDS6067.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.885180	0.91814	.	.	ENSG00000186918	ENST00000344423;ENST00000523202;ENST00000523095	T;T;T	0.38560	1.13;1.13;1.13	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.69387	0.3105	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74216	-0.3737	10	0.87932	D	0	-24.8941	17.1137	0.86683	0.0:1.0:0.0:0.0	.	484	Q9H8N7	ZN395_HUMAN	N	484	ENSP00000340494:K484N;ENSP00000429640:K484N;ENSP00000428452:K484N	ENSP00000340494:K484N	K	-	3	2	ZNF395	28262245	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.488000	0.45276	2.633000	0.89246	0.650000	0.86243	AAG		0.627	ZNF395-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219976.1			G	28206326	C	G	28206326	3	3	785	1	0	0	0	0	1	0	0	0	17886	912	32	4	93	4	ZNF395	8	28206326	Missense_Mutation	SNP	C	TCGA-SX-A71U-01A-12D-A33Q-10	4900997	28206326	118157696	55	46598											
ADAM32	203102	hgsc.bcm.edu	37	8	39080665	39080665	+	Missense_Mutation	SNP	T	T	G			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr8:39080665T>G	ENST00000379907.4	+	14	1560	c.1433T>G	c.(1432-1434)aTc>aGc	p.I478S	ADAM32_ENST00000519315.1_Missense_Mutation_p.I372S|ADAM32_ENST00000437682.2_Missense_Mutation_p.I379S	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	478	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.					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)			ATAACTTTAATCAATGGACTT	0.393																																																0													64	62	62					8																	39080665		1893	4113	6006	SO:0001583	missense	203102			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.1433T>G	chr8.hg19:g.39080665T>G	ENSP00000369238:p.Ile478Ser		Q8TC42	Missense_Mutation	SNP	ENST00000379907.4	hg19	CCDS47846.1	.	.	.	.	.	.	.	.	.	.	T	7.793	0.711971	0.15306	.	.	ENSG00000197140	ENST00000437682;ENST00000519315;ENST00000379907	T;T;T	0.03004	4.08;4.16;4.47	5.55	-11.1	0.00147	ADAM, cysteine-rich (1);Blood coagulation inhibitor, Disintegrin (2);	2.794810	0.02236	N	0.065318	T	0.02610	0.0079	N	0.20574	0.59	0.09310	N	1	B;B;B	0.09022	0.0;0.002;0.0	B;B;B	0.09377	0.0;0.001;0.004	T	0.26883	-1.0090	10	0.16420	T	0.52	.	13.9077	0.63845	0.1274:0.0861:0.0:0.7864	.	379;372;478	E7EPX8;E7ER82;Q8TC27	.;.;ADA32_HUMAN	S	379;372;478	ENSP00000405978:I379S;ENSP00000429422:I372S;ENSP00000369238:I478S	ENSP00000369238:I478S	I	+	2	0	ADAM32	39199822	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.629000	0.02029	-2.184000	0.00762	-0.339000	0.08088	ATC		0.393	ADAM32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377089.1	NM_145004		G	39080665	T	G	39080665	3	3	785	1	0	0	0	0	1	0	0	0	249	1435	50	5	1487	5	ADAM32	8	39080665	Missense_Mutation	SNP	T	TCGA-SX-A71U-01A-12D-A33Q-10	10874339	39080665	107283357	56	46599											
C9orf152	401546	hgsc.bcm.edu	37	9	112963539	112963539	+	Nonsense_Mutation	SNP	G	G	A			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr9:112963539G>A	ENST00000400613.4	-	2	1018	c.409C>T	c.(409-411)Caa>Taa	p.Q137*	C9orf152_ENST00000473442.1_Intron	NM_001012993.2	NP_001013011.2	Q5JTZ5	CI152_HUMAN	chromosome 9 open reading frame 152	137										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						TGATGTACTTGATGACTGGTG	0.547																																																0													169	154	159					9																	112963539		2203	4300	6503	SO:0001587	stop_gained	401546			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.409C>T	chr9.hg19:g.112963539G>A	ENSP00000383456:p.Gln137*		A8MWT6	Nonsense_Mutation	SNP	ENST00000400613.4	hg19	CCDS35102.2	.	.	.	.	.	.	.	.	.	.	G	38	6.959087	0.97964	.	.	ENSG00000188959	ENST00000400613	.	.	.	4.16	2.19	0.27852	.	0.833553	0.10475	N	0.670329	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	-0.2823	12.1388	0.53986	0.0:0.3309:0.6691:0.0	.	.	.	.	X	137	.	ENSP00000383456:Q137X	Q	-	1	0	C9orf152	112003360	0.002000	0.14202	0.023000	0.16930	0.171000	0.22731	0.763000	0.26517	0.632000	0.30432	0.655000	0.94253	CAA		0.547	C9orf152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053602.2	NM_001012993		A	112963539	G	A	112963539	4	1	785	1	0	0	0	0	0	1	0	0	2465	1299	45	2	314	2	C9orf152	9	112963539	Nonsense_Mutation	SNP	G	TCGA-SX-A71U-01A-12D-A33Q-10		112963539	28249892	57	46600											
OR1L1	26737	hgsc.bcm.edu	37	9	125424669	125424669	+	Silent	SNP	T	T	G			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr9:125424669T>G	ENST00000373686.1	+	1	825	c.825T>G	c.(823-825)gtT>gtG	p.V275V	OR1L1_ENST00000309623.1_Silent_p.V225V			Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	275						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(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						TCATCACTGTTCTGAAGATTC	0.408																																																0													169	169	169					9																	125424669		2203	4300	6503	SO:0001819	synonymous_variant	26737				CCDS35127.1, CCDS35127.2	9q33.2	2013-09-20			ENSG00000173679	ENSG00000173679		"GPCR / Class A : Olfactory receptors"	8213	protein-coding gene	gene with protein product				OR1L2			Standard	NM_001005236		Approved	OR9-C	uc022bmz.1	Q8NH94	OTTHUMG00000020618	ENST00000373686.1:c.825T>G	chr9.hg19:g.125424669T>G			Q5T7Z3|Q6IFN2	Silent	SNP	ENST00000373686.1	hg19																																																																																					0.408	OR1L1-201	KNOWN	basic	protein_coding	protein_coding				G	125424669	T	G	125424669	2	3	785	1	0	0	0	0	0	0	0	1	10965	1770	62	5		5	OR1L1	9	125424669	Silent	SNP	T	TCGA-SX-A71U-01A-12D-A33Q-10	12461130	125424669	15788762	58	46601											
PHYHD1	254295	hgsc.bcm.edu	37	9	131702760	131702760	+	Silent	SNP	C	C	A			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr9:131702760C>A	ENST00000372592.3	+	10	1503	c.570C>A	c.(568-570)atC>atA	p.I190I	PHYHD1_ENST00000487504.1_3'UTR|PHYHD1_ENST00000353176.5_Silent_p.I169I|RP11-101E3.5_ENST00000482796.1_5'Flank|PHYHD1_ENST00000308941.5_Missense_Mutation_p.S183Y|PHYHD1_ENST00000421063.2_Silent_p.I169I	NM_001100876.1	NP_001094346.1	Q5SRE7	PHYD1_HUMAN	phytanoyl-CoA dioxygenase domain containing 1	190							dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(1)|stomach(3)	10						TCTGGTTCATCCCTGGCTCCC	0.627																																																0													90	95	93					9																	131702760		2203	4300	6503	SO:0001819	synonymous_variant	254295			BC051300	CCDS6914.1, CCDS43885.1, CCDS43886.1	9q34.13	2010-08-13			ENSG00000175287	ENSG00000175287			23396	protein-coding gene	gene with protein product						12477932	Standard	NM_174933		Approved	MGC16638	uc004bwp.2	Q5SRE7	OTTHUMG00000020764	ENST00000372592.3:c.570C>A	chr9.hg19:g.131702760C>A			A6PWN9|A6PWP0|B3KT57|B4E3X8|Q5SRE9|Q5SRF0|Q7Z623|Q7Z7P9|Q96GM4	Missense_Mutation	SNP	ENST00000372592.3	hg19	CCDS43885.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.941654	0.73557	.	.	ENSG00000175287	ENST00000308941;ENST00000419872	.	.	.	5.25	5.25	0.73442	.	0.956782	0.08660	N	0.912562	T	0.65354	0.2683	.	.	.	0.80722	D	1	D	0.63046	0.992	P	0.62560	0.904	T	0.50583	-0.8811	8	0.16896	T	0.51	-13.1688	9.684	0.40087	0.0:0.84:0.0:0.16	.	183	Q5SRE7-3	.	Y	183;48	.	ENSP00000309515:S183Y	S	+	2	0	PHYHD1	130742581	0.911000	0.30947	1.000000	0.80357	0.998000	0.95712	0.063000	0.14410	2.470000	0.83445	0.555000	0.69702	TCC		0.627	PHYHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054506.2	NM_174933		A	131702760	C	A	131702760	2	1	785	1	0	0	0	0	0	0	0	1	11867	855	30	4		4	PHYHD1	9	131702760	Silent	SNP	C	TCGA-SX-A71U-01A-12D-A33Q-10	6278091	131702760	9510671	59	46602											
DIP2C	22982	hgsc.bcm.edu	37	10	459927	459927	+	Frame_Shift_Del	DEL	C	C	-			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr10:459927delC	ENST00000280886.6	-	8	1070	c.983delG	c.(982-984)ggcfs	p.G328fs	DIP2C_ENST00000381496.3_Frame_Shift_Del_p.G221fs	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	328						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)		CGAGATGGTGCCCCACCTCTG	0.672																																																0													63	63	63					10																	459927		2203	4300	6503	SO:0001589	frameshift_variant	22982			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.983delG	chr10.hg19:g.459927delC	ENSP00000280886:p.Gly328fs		B4DPI5|Q5SS78	Frame_Shift_Del	DEL	ENST00000280886.6	hg19	CCDS7054.1																																																																																				0.672	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		-	459927	C	-	459927	7	5	785	1	0	1	0	1	0	0	0	0	4531	739	26	0	3807	0	DIP2C	10	459927	Frame_Shift_Del	DEL	C	TCGA-SX-A71U-01A-12D-A33Q-10		459927	135074820	60	46603											
ZNF22	7570	hgsc.bcm.edu	37	10	45499114	45499114	+	Nonsense_Mutation	SNP	C	C	T			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr10:45499114C>T	ENST00000298299.3	+	2	891	c.298C>T	c.(298-300)Cag>Tag	p.Q100*	C10orf25_ENST00000298298.1_5'Flank|CEP164P1_ENST00000456938.2_RNA	NM_006963.4	NP_008894.2	P17026	ZNF22_HUMAN	zinc finger protein 22	100					odontogenesis (GO:0042476)|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(2)|endometrium(1)|kidney(2)|lung(2)	8		Prostate(175;0.0352)|all_neural(218;0.202)				TAATCTCATTCAGCATCGACG	0.413																																																0													57	56	56					10																	45499114		2203	4300	6503	SO:0001587	stop_gained	7570			BC041139	CCDS7211.1	10q11	2013-01-08	2012-07-12		ENSG00000165512	ENSG00000165512		"Zinc fingers, C2H2-type"	13012	protein-coding gene	gene with protein product		194529					Standard	NM_006963		Approved	KOX15, HKR-T1, ZNF422, Zfp422	uc001jbw.3	P17026	OTTHUMG00000018064	ENST00000298299.3:c.298C>T	chr10.hg19:g.45499114C>T	ENSP00000298299:p.Gln100*		Q5T741|Q96FM4	Nonsense_Mutation	SNP	ENST00000298299.3	hg19	CCDS7211.1	.	.	.	.	.	.	.	.	.	.	C	40	8.366025	0.98779	.	.	ENSG00000165512	ENST00000298299	.	.	.	5.02	5.02	0.67125	.	0.000000	0.46758	D	0.000280	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-16.5608	10.8467	0.46746	0.1881:0.8119:0.0:0.0	.	.	.	.	X	100	.	ENSP00000298299:Q100X	Q	+	1	0	ZNF22	44819120	0.000000	0.05858	1.000000	0.80357	0.946000	0.59487	-0.103000	0.10940	2.583000	0.87209	0.655000	0.94253	CAG		0.413	ZNF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047761.1	NM_006963		T	45499114	C	T	45499114	4	4	785	1	0	0	0	0	0	1	0	0	17779	827	29	2	300	2	ZNF22	10	45499114	Nonsense_Mutation	SNP	C	TCGA-SX-A71U-01A-12D-A33Q-10	45039187	45499114	90035633	61	46604											
ADK	132	hgsc.bcm.edu	37	10	75911070	75911070	+	Missense_Mutation	SNP	A	A	C			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr10:75911070A>C	ENST00000286621.2	+	1	84	c.34A>C	c.(34-36)Aag>Cag	p.K12Q	ADK_ENST00000539909.1_Missense_Mutation_p.K12Q|AP3M1_ENST00000372745.1_5'Flank|AP3M1_ENST00000487653.1_5'Flank|AP3M1_ENST00000355264.4_5'Flank	NM_006721.3	NP_006712.2	P55263	ADK_HUMAN	adenosine kinase	12					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)	GAAGCCCAAAAAGCTGAAGGT	0.672																																																0													51	47	49					10																	75911070		1959	3758	5717	SO:0001583	missense	132			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.34A>C	chr10.hg19:g.75911070A>C	ENSP00000286621:p.Lys12Gln		B7Z783|B7Z800|O00741|O00742|Q16710|Q5JQ10|Q5JQ11|Q9BTN2	Missense_Mutation	SNP	ENST00000286621.2	hg19	CCDS7343.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.243859	0.79912	.	.	ENSG00000156110	ENST00000539909;ENST00000286621	.	.	.	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.54695	0.1874	L	0.48362	1.52	0.80722	D	1	P;P	0.48162	0.906;0.906	B;B	0.44224	0.444;0.444	T	0.56842	-0.7912	9	0.45353	T	0.12	-10.7025	13.8494	0.63487	1.0:0.0:0.0:0.0	.	12;12	B7Z783;P55263	.;ADK_HUMAN	Q	12	.	ENSP00000286621:K12Q	K	+	1	0	ADK	75581076	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.757000	0.47557	2.292000	0.77174	0.533000	0.62120	AAG		0.672	ADK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048763.1	NM_001123, NM_006721		C	75911070	A	C	75911070	3	2	785	1	0	0	0	0	1	0	0	0	320	15	1	5	36	5	ADK	10	75911070	Missense_Mutation	SNP	A	TCGA-SX-A71U-01A-12D-A33Q-10	30411956	75911070	59623677	62	46605											
FAM190B	54462	hgsc.bcm.edu	37	10	86185593	86185593	+	Missense_Mutation	SNP	T	T	G			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr10:86185593T>G	ENST00000224756.8	+	5	1997	c.1812T>G	c.(1810-1812)caT>caG	p.H604Q	CCSER2_ENST00000494144.1_3'UTR|CCSER2_ENST00000543283.1_Missense_Mutation_p.H31Q|CCSER2_ENST00000372088.2_Missense_Mutation_p.H604Q	NM_001284243.1|NM_018999.2	NP_001271172.1|NP_061872.2	Q9H7U1	CCSE2_HUMAN	coiled-coil serine-rich protein 2	604	His-rich.				microtubule bundle formation (GO:0001578)	microtubule cytoskeleton (GO:0015630)											GACAGGAGCATTACCACCTCA	0.478																																																0													136	115	122					10																	86185593		2203	4300	6503	SO:0001583	missense	54462				CCDS31235.1, CCDS60582.1, CCDS60583.1, CCDS73159.1	10q23.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000107771	ENSG00000107771			29197	protein-coding gene	gene with protein product			"KIAA1128", "family with sequence similarity 190, member B"	KIAA1128, FAM190B		10574461	Standard	XM_005269905		Approved		uc001kdh.1	Q9H7U1	OTTHUMG00000018641	ENST00000224756.8:c.1812T>G	chr10.hg19:g.86185593T>G	ENSP00000224756:p.His604Gln		B4DFY4|B4DQU9|B7WPE8|D3DWE2|Q8N6E9|Q9H2S0|Q9ULU1	Missense_Mutation	SNP	ENST00000224756.8	hg19	CCDS31235.1	.	.	.	.	.	.	.	.	.	.	T	13.11	2.139604	0.37728	.	.	ENSG00000107771	ENST00000224756;ENST00000372088;ENST00000543283	T;T;T	0.29917	1.93;1.91;1.55	6.07	2.64	0.31445	.	0.000000	0.85682	D	0.000000	T	0.18923	0.0454	L	0.33485	1.01	0.48762	D	0.999706	B;B	0.17667	0.023;0.005	B;B	0.14578	0.011;0.005	T	0.08027	-1.0742	10	0.36615	T	0.2	-13.8603	4.0095	0.09616	0.0:0.2881:0.3875:0.3244	.	604;604	Q9H7U1-3;Q9H7U1	.;F190B_HUMAN	Q	604;604;31	ENSP00000224756:H604Q;ENSP00000361160:H604Q;ENSP00000439944:H31Q	ENSP00000224756:H604Q	H	+	3	2	FAM190B	86175573	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	0.712000	0.25779	0.133000	0.18654	0.528000	0.53228	CAT		0.478	CCSER2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049132.2	NM_018999		G	86185593	T	G	86185593	3	3	785	1	0	0	0	0	1	0	0	0	5524	1490	52	5	1826	5	FAM190B	10	86185593	Missense_Mutation	SNP	T	TCGA-SX-A71U-01A-12D-A33Q-10	10274523	86185593	49349154	63	46606											
MRPL23	6150	hgsc.bcm.edu	37	11	1972132	1972133	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	CC	CC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr11:1972132_1972133delCC	ENST00000397298.3	+	2	106_107	c.21_22delCC	c.(19-24)taccccfs	p.P8fs	MRPL23_ENST00000486931.1_3'UTR|MRPL23_ENST00000397294.3_Frame_Shift_Del_p.P8fs|MRPL23_ENST00000381519.1_Frame_Shift_Del_p.P8fs|MRPL23_ENST00000397297.3_Frame_Shift_Del_p.P8fs|MRPL23_ENST00000381514.3_Frame_Shift_Del_p.P8fs	NM_021134.3	NP_066957.3	Q16540	RM23_HUMAN	mitochondrial ribosomal protein L23	8					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			large_intestine(2)|lung(1)|ovary(1)	4		all_epithelial(84;6.24e-05)|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;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842)		TGTACAGGTACCCCCTGTACCG	0.609																																																0																																										SO:0001589	frameshift_variant	6150			AB051340	CCDS31336.1	11p15.5	2012-09-13			ENSG00000214026	ENSG00000214026		"Mitochondrial ribosomal proteins / large subunits"	10322	protein-coding gene	gene with protein product		600789		RPL23L		8541832	Standard	NM_021134		Approved	L23MRP	uc001lux.3	Q16540	OTTHUMG00000012476	ENST00000397298.3:c.21_22delCC	chr11.hg19:g.1972134_1972135delCC	ENSP00000380466:p.Pro8fs		A8MT29|Q96Q71	Frame_Shift_Del	DEL	ENST00000397298.3	hg19	CCDS31336.1																																																																																				0.609	MRPL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034765.2	NM_021134		-	1972133	CC	-	1972132	7	5	785	1	0	1	0	1	0	0	0	0	9791	518	18	0	27	0	MRPL23	11	1972132	Frame_Shift_Del	DEL	CC	TCGA-SX-A71U-01A-12D-A33Q-10		1972132	133034384	64	46607											
FCHSD2	9873	hgsc.bcm.edu	37	11	72552500	72552500	+	Splice_Site	SNP	G	G	A	rs201269620	byFrequency	TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr11:72552500G>A	ENST00000409418.4	-	18	2438	c.2055C>T	c.(2053-2055)aaC>aaT	p.N685N	FCHSD2_ENST00000409263.1_Splice_Site_p.N46N|FCHSD2_ENST00000311172.7_Splice_Site_p.N629N|FCHSD2_ENST00000409314.1_Splice_Site_p.N709N|ATG16L2_ENST00000534905.1_Intron|FCHSD2_ENST00000458644.2_Splice_Site_p.N549N	NM_014824.2	NP_055639.2	O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	685										endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			AACCCTTACCGTTTGCTGAAG	0.507													G|||	2	0.000399361	0.0	0.0	5008	,	,		17201	0.001		0.0	False		,,,				2504	0.001															0													46	40	42					11																	72552500		2200	4293	6493	SO:0001630	splice_region_variant	9873			AB018312	CCDS8218.2	11q13.3	2008-02-05	2004-04-14	2004-04-16	ENSG00000137478	ENSG00000137478			29114	protein-coding gene	gene with protein product			"SH3 multiple domains 3"	SH3MD3		9872452, 15067381	Standard	NM_014824		Approved	KIAA0769	uc009ytl.3	O94868	OTTHUMG00000153082	ENST00000409418.4:c.2056+1C>T	chr11.hg19:g.72552500G>A			B4DNI3|Q7L8J9|Q8WVM2|Q96FV7|Q9UF77	Silent	SNP	ENST00000409418.4	hg19	CCDS8218.2																																																																																				0.507	FCHSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329429.2	NM_014824	Silent	A	72552500	G	A	72552500	5	1	785	1	0	0	0	0	0	0	1	0	5792	1159	40	1	179	1	FCHSD2	11	72552500	Splice_Site	SNP	G	TCGA-SX-A71U-01A-12D-A33Q-10	70580368	72552500	62454016	65	46608											
PCF11	51585	hgsc.bcm.edu	37	11	82877707	82877707	+	Missense_Mutation	SNP	A	A	G			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr11:82877707A>G	ENST00000298281.4	+	5	2220	c.1768A>G	c.(1768-1770)Agt>Ggt	p.S590G		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	590					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						AAACTGGCAAAGTTCCAAGTC	0.373																																																0													69	70	70					11																	82877707		1801	3982	5783	SO:0001583	missense	51585			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.1768A>G	chr11.hg19:g.82877707A>G	ENSP00000298281:p.Ser590Gly		A6H8W7|O43671|Q6P0X8	Missense_Mutation	SNP	ENST00000298281.4	hg19	CCDS44689.1	.	.	.	.	.	.	.	.	.	.	A	3.378	-0.127022	0.06795	.	.	ENSG00000165494	ENST00000298281;ENST00000530660;ENST00000530304	T;T;T	0.42900	2.0;0.96;0.99	6.07	4.96	0.65561	.	0.165679	0.43747	D	0.000537	T	0.17916	0.0430	N	0.04880	-0.145	0.25814	N	0.984368	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.0	T	0.11421	-1.0588	9	.	.	.	.	4.9308	0.13916	0.7534:0.0:0.2466:0.0	.	590;590	E9PQ01;O94913	.;PCF11_HUMAN	G	590	ENSP00000298281:S590G;ENSP00000434540:S590G;ENSP00000431567:S590G	.	S	+	1	0	PCF11	82555355	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.144000	0.64832	2.326000	0.78906	0.533000	0.62120	AGT		0.373	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885		G	82877707	A	G	82877707	3	3	785	1	0	0	0	0	1	0	0	0	11575	72	3	3	1786	3	PCF11	11	82877707	Missense_Mutation	SNP	A	TCGA-SX-A71U-01A-12D-A33Q-10	10325207	82877707	52128809	66	46609											
VAMP1	6843	hgsc.bcm.edu	37	12	6574108	6574108	+	Splice_Site	SNP	C	C	T			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr12:6574108C>T	ENST00000396308.3	-	4	434		c.e4-1		VAMP1_ENST00000361716.3_Splice_Site|TAPBPL_ENST00000545700.1_Intron|VAMP1_ENST00000544432.1_Splice_Site|VAMP1_ENST00000400911.3_Splice_Site|VAMP1_ENST00000535180.1_Splice_Site	NM_014231.3|NM_199245.1	NP_055046.1|NP_954740.1	P23763	VAMP1_HUMAN	vesicle-associated membrane protein 1 (synaptobrevin 1)						neurotransmitter secretion (GO:0007269)|SNARE complex assembly (GO:0035493)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuron projection (GO:0043005)|synapse (GO:0045202)				endometrium(1)|large_intestine(1)|prostate(1)	3					Botulinum Toxin Type B(DB00042)	TGATCATCATCTGAGGAAACA	0.463																																																0													181	159	167					12																	6574108		2203	4300	6503	SO:0001630	splice_region_variant	6843				CCDS31731.1, CCDS41740.1, CCDS44809.1, CCDS73422.1	12p	2013-02-13			ENSG00000139190	ENSG00000139190		"Vesicle-associated membrane proteins"	12642	protein-coding gene	gene with protein product		185880		SYB1		1976629	Standard	XM_006719011		Approved	VAMP-1	uc001qok.3	P23763	OTTHUMG00000168269	ENST00000396308.3:c.289-1G>A	chr12.hg19:g.6574108C>T			A8MVP3|D3DUR3|O75468|Q15857|Q6FG94|Q8IVC9	Splice_Site	SNP	ENST00000396308.3	hg19	CCDS41740.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.696389	0.88830	.	.	ENSG00000139190	ENST00000400911;ENST00000361716;ENST00000535180;ENST00000355479;ENST00000396308;ENST00000396943	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8991	0.96978	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	VAMP1	6444369	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.708000	0.92522	0.655000	0.94253	.		0.463	VAMP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399078.1		Intron	T	6574108	C	T	6574108	5	4	785	1	0	0	0	0	0	0	1	0	17117	927	32	2	105	2	VAMP1	12	6574108	Splice_Site	SNP	C	TCGA-SX-A71U-01A-12D-A33Q-10		6574108	127277787	67	46610											
ATF7IP	55729	hgsc.bcm.edu	37	12	14577946	14577946	+	Missense_Mutation	SNP	A	A	G			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr12:14577946A>G	ENST00000540793.1	+	1	1252	c.1097A>G	c.(1096-1098)gAa>gGa	p.E366G	ATF7IP_ENST00000544627.1_Missense_Mutation_p.E374G|ATF7IP_ENST00000261168.4_Missense_Mutation_p.E366G|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000543189.1_Missense_Mutation_p.E366G|ATF7IP_ENST00000536444.1_Missense_Mutation_p.E366G			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	366	Glu-rich.				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						CGACCTCCTGAAAATGAAAAG	0.343																																																0													77	86	83					12																	14577946		2203	4299	6502	SO:0001583	missense	55729			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.1097A>G	chr12.hg19:g.14577946A>G	ENSP00000444589:p.Glu366Gly		F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Missense_Mutation	SNP	ENST00000540793.1	hg19	CCDS8663.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.982845	0.74474	.	.	ENSG00000171681	ENST00000261168;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000396279;ENST00000540793	T;T;T;T;T;T	0.35421	1.69;1.68;1.69;1.69;1.31;1.69	5.1	3.95	0.45737	.	0.000000	0.64402	D	0.000017	T	0.38852	0.1056	L	0.50333	1.59	0.34100	D	0.661804	P;B;B;B;B	0.44946	0.846;0.011;0.015;0.015;0.001	P;B;B;B;B	0.47470	0.548;0.01;0.027;0.027;0.007	T	0.57757	-0.7756	10	0.87932	D	0	-12.7544	10.2279	0.43236	0.9202:0.0:0.0798:0.0	.	374;366;366;366;366	B4E2A2;B4DRL6;G3V1U0;Q6VMQ6;Q6VMQ6-2	.;.;.;MCAF1_HUMAN;.	G	366;366;366;374;366;366	ENSP00000261168:E366G;ENSP00000443179:E366G;ENSP00000445955:E366G;ENSP00000440440:E374G;ENSP00000379575:E366G;ENSP00000444589:E366G	ENSP00000261168:E366G	E	+	2	0	ATF7IP	14469213	1.000000	0.71417	0.995000	0.50966	0.862000	0.49288	3.175000	0.50855	2.038000	0.60285	0.482000	0.46254	GAA		0.343	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179		G	14577946	A	G	14577946	3	3	785	1	0	0	0	0	1	0	0	0	1087	246	9	3	1099	3	ATF7IP	12	14577946	Missense_Mutation	SNP	A	TCGA-SX-A71U-01A-12D-A33Q-10	8003838	14577946	119273949	68	46611											
PDZRN4	29951	hgsc.bcm.edu	37	12	41967250	41967250	+	Missense_Mutation	SNP	A	A	C			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr12:41967250A>C	ENST00000402685.2	+	10	2677	c.2669A>C	c.(2668-2670)aAg>aCg	p.K890T	PDZRN4_ENST00000298919.7_Missense_Mutation_p.K630T|PDZRN4_ENST00000539469.2_Missense_Mutation_p.K632T	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	890							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				ATGGAATGGAAGGTGAAAATT	0.498																																																0													114	104	107					12																	41967250		2203	4300	6503	SO:0001583	missense	29951			AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"RING-type (C3HC4) zinc fingers"	30552	protein-coding gene	gene with protein product	"similar to semaF cytoplasmic domain associated protein 3"	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.2669A>C	chr12.hg19:g.41967250A>C	ENSP00000384197:p.Lys890Thr		Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	hg19	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.091044	0.76756	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.65732	-0.17;-0.17;-0.17	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.81273	0.4788	M	0.85373	2.75	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;1.0	D	0.84706	0.0731	10	0.87932	D	0	-49.9998	15.8245	0.78686	1.0:0.0:0.0:0.0	.	890;630;632	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	T	890;632;630	ENSP00000384197:K890T;ENSP00000439990:K632T;ENSP00000298919:K630T	ENSP00000298919:K630T	K	+	2	0	PDZRN4	40253517	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.287000	0.95975	2.274000	0.75844	0.528000	0.53228	AAG		0.498	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		C	41967250	A	C	41967250	3	2	785	1	0	0	0	0	1	0	0	0	11712	72	3	5	2780	5	PDZRN4	12	41967250	Missense_Mutation	SNP	A	TCGA-SX-A71U-01A-12D-A33Q-10	27389304	41967250	91884645	69	46612											
PPHLN1	51535	hgsc.bcm.edu	37	12	42768782	42768782	+	Silent	SNP	T	T	C			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr12:42768782T>C	ENST00000395568.2	+	5	501	c.417T>C	c.(415-417)gaT>gaC	p.D139D	PPHLN1_ENST00000432191.2_Silent_p.D84D|PPHLN1_ENST00000552761.1_Silent_p.D91D|PPHLN1_ENST00000395580.3_Silent_p.D146D|PPHLN1_ENST00000358314.7_Silent_p.D139D|PPHLN1_ENST00000317560.9_Silent_p.D91D|PPHLN1_ENST00000256678.8_Silent_p.D38D|PPHLN1_ENST00000449194.2_Silent_p.D139D|PPHLN1_ENST00000549190.1_Silent_p.D157D|PPHLN1_ENST00000337898.6_Silent_p.D84D	NM_016488.6	NP_057572.5	Q8NEY8	PPHLN_HUMAN	periphilin 1	139					keratinization (GO:0031424)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		GCCGAAAGGATTCTCCACACA	0.418																																																0													100	95	97					12																	42768782		2203	4300	6503	SO:0001819	synonymous_variant	51535			AY157850	CCDS8741.1, CCDS31777.1, CCDS41773.1, CCDS44860.1, CCDS44861.1, CCDS55817.1	12q12	2006-10-24				ENSG00000134283			19369	protein-coding gene	gene with protein product		608150					Standard	NM_016488		Approved		uc001rng.1	Q8NEY8		ENST00000395568.2:c.417T>C	chr12.hg19:g.42768782T>C			E9PAX8|Q86YT2|Q8IXN3|Q8TB09|Q96NB9|Q9NXL4|Q9P0P6|Q9P0R9	Silent	SNP	ENST00000395568.2	hg19	CCDS31777.1																																																																																				0.418	PPHLN1-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404047.1	NM_201515		C	42768782	T	C	42768782	2	2	785	1	0	0	0	0	0	0	0	1	12317	1490	52	3		3	PPHLN1	12	42768782	Silent	SNP	T	TCGA-SX-A71U-01A-12D-A33Q-10	801532	42768782	91083113	70	46613											
SLC38A2	54407	hgsc.bcm.edu	37	12	46756297	46756297	+	Missense_Mutation	SNP	C	C	G			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr12:46756297C>G	ENST00000256689.5	-	14	1748	c.1304G>C	c.(1303-1305)aGg>aCg	p.R435T	SLC38A2_ENST00000551374.1_Missense_Mutation_p.R273T|SLC38A2_ENST00000547252.1_5'Flank	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	435					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)		AAAGATATCCCTAATAGTTGG	0.348																																					Ovarian(9;448 492 8335 28722 40361)											0													78	74	75					12																	46756297		2202	4298	6500	SO:0001583	missense	54407			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.1304G>C	chr12.hg19:g.46756297C>G	ENSP00000256689:p.Arg435Thr		Q6IA88|Q6ZMG2|Q9HAV3|Q9NVA8|Q9P2G5	Missense_Mutation	SNP	ENST00000256689.5	hg19	CCDS8749.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.620493	0.87460	.	.	ENSG00000134294	ENST00000256689;ENST00000551374	T;T	0.02216	4.39;4.39	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.11196	0.0273	M	0.78637	2.42	0.58432	D	0.999999	B;P;D	0.58970	0.367;0.954;0.984	B;P;P	0.58928	0.217;0.848;0.834	T	0.19647	-1.0299	10	0.21540	T	0.41	-17.7125	20.0916	0.97822	0.0:1.0:0.0:0.0	.	273;335;435	F8VQW8;Q96QD8-2;Q96QD8	.;.;S38A2_HUMAN	T	435;273	ENSP00000256689:R435T;ENSP00000450406:R273T	ENSP00000256689:R435T	R	-	2	0	SLC38A2	45042564	1.000000	0.71417	0.997000	0.53966	0.951000	0.60555	3.058000	0.49939	2.737000	0.93849	0.650000	0.86243	AGG		0.348	SLC38A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404226.1			G	46756297	C	G	46756297	3	3	785	1	0	0	0	0	1	0	0	0	14610	681	24	4	228	4	SLC38A2	12	46756297	Missense_Mutation	SNP	C	TCGA-SX-A71U-01A-12D-A33Q-10	3987515	46756297	87095598	71	46614											
TBC1D15	64786	hgsc.bcm.edu	37	12	72274296	72274296	+	Silent	SNP	T	T	C			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr12:72274296T>C	ENST00000550746.1	+	4	316	c.252T>C	c.(250-252)ggT>ggC	p.G84G	TBC1D15_ENST00000319106.8_Silent_p.G92G|TBC1D15_ENST00000393309.3_5'UTR|TBC1D15_ENST00000485960.2_Silent_p.G84G	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	84					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	Rab GTPase activator activity (GO:0005097)			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AAGAAAGAGGTCATCGAGGAT	0.333																																																0													48	42	44					12																	72274296		2203	4300	6503	SO:0001819	synonymous_variant	64786			AL157464	CCDS31858.1, CCDS53814.1, CCDS55849.1	12q15	2013-07-09			ENSG00000121749	ENSG00000121749			25694	protein-coding gene	gene with protein product		612662				16055087	Standard	NM_022771		Approved	FLJ12085, DKFZp761D0223	uc001swu.3	Q8TC07	OTTHUMG00000158553	ENST00000550746.1:c.252T>C	chr12.hg19:g.72274296T>C			B4DMT9|B9A6L6|J3KNI9|Q9HA83	Silent	SNP	ENST00000550746.1	hg19	CCDS31858.1																																																																																				0.333	TBC1D15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351266.2	NM_022771		C	72274296	T	C	72274296	2	2	785	1	0	0	0	0	0	0	0	1	15609	1654	58	3		3	TBC1D15	12	72274296	Silent	SNP	T	TCGA-SX-A71U-01A-12D-A33Q-10	25517999	72274296	61577599	72	46615											
MED13L	23389	hgsc.bcm.edu	37	12	116418708	116418709	+	Frame_Shift_Ins	INS	-	-	T	rs376850639		TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr12:116418708_116418709insT	ENST00000281928.3	-	23	5416_5417	c.5210_5211insA	c.(5209-5211)aagfs	p.K1737fs		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1737						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)		CTTGCTCATCCTTCATTGTCTG	0.396																																																0																																										SO:0001589	frameshift_variant	23389			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.5211dupA	chr12.hg19:g.116418710_116418710dupT	ENSP00000281928:p.Lys1737fs		A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Frame_Shift_Ins	INS	ENST00000281928.3	hg19	CCDS9177.1																																																																																				0.396	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			T	116418709	-	T	116418708	7	5	785	1	0	1	1	0	0	0	0	0	9433	680	24	0	1457	0	MED13L	12	116418708	Frame_Shift_Ins	INS	-	TCGA-SX-A71U-01A-12D-A33Q-10	44144412	116418708	17433187	73	46616											
COL4A2	1284	hgsc.bcm.edu	37	13	111090980	111090980	+	Missense_Mutation	SNP	G	G	A			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr13:111090980G>A	ENST00000360467.5	+	15	1183	c.877G>A	c.(877-879)Gga>Aga	p.G293R		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	293	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)	p.G293*(1)		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)			TTCCTTGAAGGGAGAAGAAGG	0.542																																																1	Substitution - Nonsense(1)	lung(1)											148	150	149					13																	111090980		1894	4127	6021	SO:0001583	missense	1284			AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"Collagens"	2203	protein-coding gene	gene with protein product	"canstatin", "collagen type IV alpha 2"	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.877G>A	chr13.hg19:g.111090980G>A	ENSP00000353654:p.Gly293Arg		Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	hg19	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.900715	0.33535	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.99353	-5.77	4.52	4.52	0.55395	.	0.000000	0.50627	D	0.000108	D	0.99507	0.9824	M	0.94101	3.495	0.53688	D	0.999975	D	0.89917	1.0	D	0.97110	1.0	D	0.98190	1.0462	10	0.72032	D	0.01	.	13.127	0.59360	0.0:0.0:1.0:0.0	.	293	P08572	CO4A2_HUMAN	R	293	ENSP00000353654:G293R	ENSP00000257309:G293R	G	+	1	0	COL4A2	109888981	1.000000	0.71417	0.997000	0.53966	0.321000	0.28281	4.562000	0.60816	2.226000	0.72624	0.557000	0.71058	GGA		0.542	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		A	111090980	G	A	111090980	3	1	785	1	0	0	0	0	1	0	0	0	3692	1233	43	2	931	2	COL4A2	13	111090980	Missense_Mutation	SNP	G	TCGA-SX-A71U-01A-12D-A33Q-10		111090980	4078898	74	46617											
KIAA0586	9786	hgsc.bcm.edu	37	14	58965662	58965663	+	Frame_Shift_Ins	INS	-	-	T			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr14:58965662_58965663insT	ENST00000556134.1	+	28	4381_4382	c.4107_4108insT	c.(4108-4110)tttfs	p.F1370fs	KIAA0586_ENST00000261244.5_Frame_Shift_Ins_p.F1309fs|KIAA0586_ENST00000354386.6_Frame_Shift_Ins_p.F1438fs|KIAA0586_ENST00000423743.3_Frame_Shift_Ins_p.F1341fs|KIAA0586_ENST00000538571.2_3'UTR	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	Q9BVV6	TALD3_HUMAN	KIAA0586	1370					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						TATCTCGGCAATTTGACACAGT	0.376																																																0																																										SO:0001589	frameshift_variant	9786			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.4110dupT	chr14.hg19:g.58965665_58965665dupT	ENSP00000452351:p.Phe1370fs		B4DZB6|E7EWM8|J3KQH9|O60328|Q6NYC6|Q6UV20	Frame_Shift_Ins	INS	ENST00000556134.1	hg19	CCDS58321.1																																																																																				0.376	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411887.1	NM_014749		T	58965663	-	T	58965662	7	5	785	1	0	1	1	0	0	0	0	0	8188	98	4	0	4026	0	KIAA0586	14	58965662	Frame_Shift_Ins	INS	-	TCGA-SX-A71U-01A-12D-A33Q-10		58965662	48383878	75	46618											
ATG2B	55102	hgsc.bcm.edu	37	14	96783528	96783528	+	Missense_Mutation	SNP	A	A	G			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr14:96783528A>G	ENST00000359933.4	-	20	4057	c.3164T>C	c.(3163-3165)cTt>cCt	p.L1055P		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1055					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)		AATATTCAGAAGAACTGAGAG	0.333																																																0													78	79	79					14																	96783528		1796	4078	5874	SO:0001583	missense	55102			AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 103", "ATG2 autophagy related 2 homolog B (S. cerevisiae)"	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.3164T>C	chr14.hg19:g.96783528A>G	ENSP00000353010:p.Leu1055Pro		Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	hg19	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	A	22.5	4.304738	0.81247	.	.	ENSG00000066739	ENST00000359933	T	0.10573	2.86	5.56	5.56	0.83823	.	0.604497	0.14732	U	0.301693	T	0.17109	0.0411	L	0.53249	1.67	0.58432	D	0.999999	P	0.47409	0.895	P	0.47470	0.548	T	0.01238	-1.1409	10	0.34782	T	0.22	.	12.2792	0.54755	0.8732:0.0:0.0:0.1268	.	1055	Q96BY7	ATG2B_HUMAN	P	1055	ENSP00000353010:L1055P	ENSP00000353010:L1055P	L	-	2	0	ATG2B	95853281	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.464000	0.66719	2.239000	0.73571	0.528000	0.53228	CTT		0.333	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		G	96783528	A	G	96783528	3	3	785	1	0	0	0	0	1	0	0	0	1094	72	3	3	3164	3	ATG2B	14	96783528	Missense_Mutation	SNP	A	TCGA-SX-A71U-01A-12D-A33Q-10	37817866	96783528	10566012	76	46619											
TMEM85	51234	hgsc.bcm.edu	37	15	34519983	34519983	+	Frame_Shift_Del	DEL	C	C	-			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr15:34519983delC	ENST00000267750.4	+	3	407	c.291delC	c.(289-291)ttcfs	p.F97fs	EMC4_ENST00000559421.1_Intron|EMC4_ENST00000249209.4_Frame_Shift_Del_p.F97fs|EMC4_ENST00000559078.1_Frame_Shift_Del_p.F97fs|EMC4_ENST00000557879.1_Intron	NM_016454.2	NP_057538.1	Q5J8M3	EMC4_HUMAN	ER membrane protein complex subunit 4	97					apoptotic process (GO:0006915)	ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											TCTCCATCTTCCCTACTATGA	0.453																																																0													180	154	163					15																	34519983		2201	4298	6499	SO:0001589	frameshift_variant	51234			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.291delC	chr15.hg19:g.34519983delC	ENSP00000267750:p.Phe97fs		A8K3A9|B4DJQ4|Q96KX9|Q9BUI5|Q9P0T9	Frame_Shift_Del	DEL	ENST00000267750.4	hg19	CCDS10035.1																																																																																				0.453	EMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251568.1	NM_016454		-	34519983	C	-	34519983	7	5	785	1	0	1	0	1	0	0	0	0	16212	854	30	0	301	0	TMEM85	15	34519983	Frame_Shift_Del	DEL	C	TCGA-SX-A71U-01A-12D-A33Q-10		34519983	68011409	77	46620											
EID1	399694	hgsc.bcm.edu	37	15	49170567	49170567	+	Intron	SNP	C	C	A			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr15:49170567C>A	ENST00000332408.4	-	4	1269				SHC4_ENST00000396535.3_5'Flank|EID1_ENST00000558295.1_Intron|EID1_ENST00000530028.2_Missense_Mutation_p.P65Q|EID1_ENST00000560490.1_Missense_Mutation_p.P43Q|SHC4_ENST00000537958.1_5'Flank	NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4						apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of cell proliferation (GO:0008284)|regulation of gene expression (GO:0010468)|stem cell differentiation (GO:0048863)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		GAGGCCCAGCCAATGGCGGCG	0.701																																																0													16	20	19					15																	49170567		2001	4147	6148	SO:0001627	intron_variant	23741			AY358250	CCDS10130.1	15q21.1-q21.2	2013-02-14			ENSG00000185634	ENSG00000185634		"SH2 domain containing"	16743	protein-coding gene	gene with protein product	"rai-like protein"						Standard	NM_203349		Approved	RaLP	uc001zxb.1	Q6S5L8	OTTHUMG00000131513	ENST00000332408.4:c.840+5877G>T	chr15.hg19:g.49170567C>A			Q6UXQ3|Q8IYW3	Missense_Mutation	SNP	ENST00000332408.4	hg19	CCDS10130.1	.	.	.	.	.	.	.	.	.	.	C	9.230	1.035638	0.19590	.	.	ENSG00000255302	ENST00000530028	T	0.54279	0.58	4.04	4.04	0.47022	.	.	.	.	.	T	0.50684	0.1630	L	0.36672	1.1	0.54753	D	0.999982	P	0.48503	0.911	P	0.49421	0.61	T	0.54357	-0.8306	9	0.72032	D	0.01	.	12.0069	0.53265	0.0:1.0:0.0:0.0	.	65	Q9Y6B2	EID1_HUMAN	Q	65	ENSP00000431162:P65Q	ENSP00000431162:P65Q	P	+	2	0	EID1	46957859	0.015000	0.18098	0.110000	0.21437	0.061000	0.15899	0.095000	0.15127	2.530000	0.85305	0.650000	0.86243	CCA		0.701	SHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254371.1	NM_203349		A	49170567	C	A	49170567	1	1	785	0	1	0	0	0	0	0	0	0	4988	594	21	4		4	EID1	15	49170567	Intron	SNP	C	TCGA-SX-A71U-01A-12D-A33Q-10	14650584	49170567	53360825	78	46621											
MYO5C	55930	hgsc.bcm.edu	37	15	52517329	52517329	+	Missense_Mutation	SNP	A	A	G			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr15:52517329A>G	ENST00000261839.7	-	27	3469	c.3308T>C	c.(3307-3309)aTg>aCg	p.M1103T		NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1103						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)		GATCTCTGACATCTTTTCTGA	0.358																																																0													102	89	93					15																	52517329		1846	4102	5948	SO:0001583	missense	55930			AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"Myosins / Myosin superfamily : Class V"	7604	protein-coding gene	gene with protein product	"myosin 5C"	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.3308T>C	chr15.hg19:g.52517329A>G	ENSP00000261839:p.Met1103Thr		Q6P1W8	Missense_Mutation	SNP	ENST00000261839.7	hg19	CCDS42036.1	.	.	.	.	.	.	.	.	.	.	A	12.19	1.864189	0.32977	.	.	ENSG00000128833	ENST00000261839	T	0.19669	2.13	5.89	5.89	0.94794	.	0.046494	0.85682	D	0.000000	T	0.16642	0.0400	N	0.22421	0.69	0.80722	D	1	P	0.36789	0.57	B	0.38264	0.269	T	0.08700	-1.0709	10	0.15066	T	0.55	.	16.3127	0.82898	1.0:0.0:0.0:0.0	.	1103	Q9NQX4	MYO5C_HUMAN	T	1103	ENSP00000261839:M1103T	ENSP00000261839:M1103T	M	-	2	0	MYO5C	50304621	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.863000	0.75489	2.246000	0.74042	0.533000	0.62120	ATG		0.358	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728		G	52517329	A	G	52517329	3	3	785	1	0	0	0	0	1	0	0	0	10082	217	8	3	1980	3	MYO5C	15	52517329	Missense_Mutation	SNP	A	TCGA-SX-A71U-01A-12D-A33Q-10	3346762	52517329	50014063	79	46622											
NEDD4	4734	hgsc.bcm.edu	37	15	56207818	56207818	+	Frame_Shift_Del	DEL	A	A	-			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr15:56207818delA	ENST00000508342.1	-	1	1511	c.1212delT	c.(1210-1212)attfs	p.I404fs	NEDD4_ENST00000338963.2_Frame_Shift_Del_p.I404fs|NEDD4_ENST00000435532.3_Intron|NEDD4_ENST00000506154.1_Frame_Shift_Del_p.I404fs	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	404					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)		AATTAAGCTTAATTTCTGACA	0.353																																																0													58	58	58					15																	56207818		2193	4292	6485	SO:0001589	frameshift_variant	4734			D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"receptor-potentiating factor 1"	602278	"neural precursor cell expressed, developmentally down-regulated 4"			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.1212delT	chr15.hg19:g.56207818delA	ENSP00000424827:p.Ile404fs		A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Frame_Shift_Del	DEL	ENST00000508342.1	hg19																																																																																					0.353	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	NM_198400		-	56207818	A	-	56207818	7	5	785	1	0	1	0	1	0	0	0	0	10312	358	13	0	2847	0	NEDD4	15	56207818	Frame_Shift_Del	DEL	A	TCGA-SX-A71U-01A-12D-A33Q-10	3690489	56207818	46323574	80	46623											
CCDC64B	146439	hgsc.bcm.edu	37	16	3078253	3078253	+	Missense_Mutation	SNP	C	C	G			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr16:3078253C>G	ENST00000572449.1	-	10	1443	c.1381G>C	c.(1381-1383)Ggg>Cgg	p.G461R	CCDC64B_ENST00000389347.4_Missense_Mutation_p.G461R|CCDC64B_ENST00000573514.1_Missense_Mutation_p.G254R			A1A5D9	BICR2_HUMAN	coiled-coil domain containing 64B	461										breast(1)|endometrium(2)|large_intestine(1)	4						AGCTGCTGCCCGATCACCACC	0.771																																																0													8	9	9					16																	3078253		1914	3952	5866	SO:0001583	missense	146439			BC128602	CCDS45393.1	16p13.3	2008-07-04				ENSG00000162069			33584	protein-coding gene	gene with protein product							Standard	NM_001103175		Approved		uc002ctf.4	A1A5D9		ENST00000572449.1:c.1381G>C	chr16.hg19:g.3078253C>G	ENSP00000459043:p.Gly461Arg		Q658L9	Missense_Mutation	SNP	ENST00000572449.1	hg19	CCDS45393.1	.	.	.	.	.	.	.	.	.	.	c	17.50	3.405799	0.62288	.	.	ENSG00000162069	ENST00000389347	T	0.30714	1.52	4.97	4.02	0.46733	.	0.230323	0.33040	N	0.005353	T	0.44074	0.1276	L	0.50333	1.59	0.09310	N	0.999998	D	0.89917	1.0	D	0.75484	0.986	T	0.17837	-1.0356	10	0.46703	T	0.11	-47.1987	7.3929	0.26919	0.0:0.8046:0.0:0.1954	.	461	A1A5D9	BICR2_HUMAN	R	461	ENSP00000373998:G461R	ENSP00000373998:G461R	G	-	1	0	CCDC64B	3018254	0.043000	0.20138	0.936000	0.37596	0.459000	0.32528	0.772000	0.26647	1.099000	0.41499	0.556000	0.70494	GGG		0.771	CCDC64B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436991.1			G	3078253	C	G	3078253	3	3	785	1	0	0	0	0	1	0	0	0	2838	652	23	4	149	4	CCDC64B	16	3078253	Missense_Mutation	SNP	C	TCGA-SX-A71U-01A-12D-A33Q-10		3078253	87276500	81	46624											
SPIRE2	84501	hgsc.bcm.edu	37	16	89929899	89929899	+	Missense_Mutation	SNP	G	G	A			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr16:89929899G>A	ENST00000378247.3	+	11	1634	c.1591G>A	c.(1591-1593)Gtg>Atg	p.V531M	SPIRE2_ENST00000393062.2_Missense_Mutation_p.V531M	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	531					actin cytoskeleton organization (GO:0030036)|cleavage furrow formation (GO:0036089)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|intracellular transport (GO:0046907)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		CAGCCACCCCGTGGAGAGCCT	0.582																																																0													53	51	51					16																	89929899		2198	4300	6498	SO:0001583	missense	84501			AL834408	CCDS32516.1	16q24	2013-08-27	2013-08-27			ENSG00000204991			30623	protein-coding gene	gene with protein product		609217	"spire homolog 2 (Drosophila)", "spire family actin nucleation factor 2"			11347906	Standard	NM_032451		Approved	spir-2, KIAA1832	uc002foz.1	Q8WWL2		ENST00000378247.3:c.1591G>A	chr16.hg19:g.89929899G>A	ENSP00000367494:p.Val531Met		A4QPB1|Q2TA98|Q6P433|Q8ND47|Q96JJ5	Missense_Mutation	SNP	ENST00000378247.3	hg19	CCDS32516.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.421999	0.83559	.	.	ENSG00000204991	ENST00000378247;ENST00000393062	T;T	0.52754	0.65;0.72	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.73369	0.3578	M	0.85710	2.77	0.80722	D	1	D;P;D;D	0.89917	0.998;0.8;0.999;1.0	D;B;D;D	0.91635	0.917;0.303;0.917;0.999	T	0.75625	-0.3253	10	0.52906	T	0.07	-45.1084	18.6856	0.91562	0.0:0.0:1.0:0.0	.	398;531;483;531	Q8WWL2-4;Q8WWL2-2;Q8WWL2-3;Q8WWL2	.;.;.;SPIR2_HUMAN	M	531	ENSP00000367494:V531M;ENSP00000376782:V531M	ENSP00000367494:V531M	V	+	1	0	SPIRE2	88457400	1.000000	0.71417	0.962000	0.40283	0.527000	0.34593	7.430000	0.80321	2.660000	0.90430	0.467000	0.42956	GTG		0.582	SPIRE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421843.1	XM_047462		A	89929899	G	A	89929899	3	1	785	1	0	0	0	0	1	0	0	0	15077	1145	40	1	1633	1	SPIRE2	16	89929899	Missense_Mutation	SNP	G	TCGA-SX-A71U-01A-12D-A33Q-10	86851646	89929899	424854	82	46625											
DHRS13	147015	hgsc.bcm.edu	37	17	27229847	27229847	+	Missense_Mutation	SNP	G	G	C			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr17:27229847G>C	ENST00000378895.4	-	1	242	c.116C>G	c.(115-117)gCc>gGc	p.A39G	DHRS13_ENST00000394901.3_5'UTR|DHRS13_ENST00000426464.2_Missense_Mutation_p.A39G	NM_144683.3	NP_653284.2	Q6UX07	DHR13_HUMAN	dehydrogenase/reductase (SDR family) member 13	39						extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	9	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			CGTGACCACGGCCGTGCGGCC	0.751																																																0													6	7	7					17																	27229847		1759	3831	5590	SO:0001583	missense	147015			BC015582	CCDS11246.2	17q11.2	2011-09-14			ENSG00000167536	ENSG00000167536	1.1.-.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	28326	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 7C, member 5"					12975309, 19027726	Standard	NM_144683		Approved	MGC23280, SDR7C5	uc002hde.4	Q6UX07	OTTHUMG00000132678	ENST00000378895.4:c.116C>G	chr17.hg19:g.27229847G>C	ENSP00000368173:p.Ala39Gly		Q96BH7	Missense_Mutation	SNP	ENST00000378895.4	hg19	CCDS11246.2	.	.	.	.	.	.	.	.	.	.	g	14.25	2.478736	0.44044	.	.	ENSG00000167536	ENST00000378895;ENST00000426464	D;D	0.89050	-2.46;-1.82	4.4	1.28	0.21552	NAD(P)-binding domain (1);	0.658530	0.15142	N	0.278221	D	0.89805	0.6821	H	0.94542	3.55	0.09310	N	1	B;B	0.12013	0.005;0.001	B;B	0.10450	0.002;0.005	D	0.83708	0.0186	10	0.87932	D	0	.	4.2743	0.10800	0.2818:0.1707:0.5476:0.0	.	39;39	B4DJC5;Q6UX07	.;DHR13_HUMAN	G	39	ENSP00000368173:A39G;ENSP00000412826:A39G	ENSP00000368173:A39G	A	-	2	0	DHRS13	24253973	0.316000	0.24580	0.300000	0.25030	0.071000	0.16799	0.744000	0.26245	0.146000	0.19002	0.306000	0.20318	GCC		0.751	DHRS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255952.1	NM_144683		C	27229847	G	C	27229847	3	2	785	1	0	0	0	0	1	0	0	0	4491	1203	42	4	1037	4	DHRS13	17	27229847	Missense_Mutation	SNP	G	TCGA-SX-A71U-01A-12D-A33Q-10		27229847	53965363	83	46626											
HGS	9146	hgsc.bcm.edu	37	17	79663907	79663907	+	Silent	SNP	C	C	A			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr17:79663907C>A	ENST00000329138.4	+	18	1896	c.1761C>A	c.(1759-1761)gcC>gcA	p.A587A		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	587	Gln-rich.|Interaction with NF2.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane invagination (GO:0010324)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of gene expression (GO:0010628)|protein localization to membrane (GO:0072657)|protein targeting to lysosome (GO:0006622)|regulation of protein catabolic process (GO:0042176)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|secretory granule (GO:0030141)	metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			CGGGACCAGCCAGCTTCCCCA	0.682																																																0													40	49	46					17																	79663907		2202	4296	6498	SO:0001819	synonymous_variant	9146			D84064	CCDS11784.1	17q25	2009-04-29				ENSG00000185359		"Zinc fingers, FYVE domain containing"	4897	protein-coding gene	gene with protein product		604375				9407053, 9630564	Standard	NM_004712		Approved	Hrs, ZFYVE8, Vps27	uc002kbg.3	O14964		ENST00000329138.4:c.1761C>A	chr17.hg19:g.79663907C>A			Q9NR36	Silent	SNP	ENST00000329138.4	hg19	CCDS11784.1																																																																																				0.682	HGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440541.1	NM_004712		A	79663907	C	A	79663907	2	1	785	1	0	0	0	0	0	0	0	1	7089	581	21	4		4	HGS	17	79663907	Silent	SNP	C	TCGA-SX-A71U-01A-12D-A33Q-10	52434060	79663907	1531303	84	46627											
ARHGDIA	396	hgsc.bcm.edu	37	17	79827786	79827786	+	Silent	SNP	T	T	G			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr17:79827786T>G	ENST00000269321.7	-	2	156	c.21A>C	c.(19-21)acA>acC	p.T7T	ARHGDIA_ENST00000541078.2_Silent_p.T7T|RP11-498C9.3_ENST00000576554.1_RNA|ARHGDIA_ENST00000582520.1_5'Flank|ARHGDIA_ENST00000580685.1_Silent_p.T7T|ARHGDIA_ENST00000581876.1_Silent_p.T7T|RP11-498C9.3_ENST00000576021.1_RNA|ARHGDIA_ENST00000584461.1_Silent_p.T7T|ARHGDIA_ENST00000400721.4_Silent_p.T7T	NM_001185078.1|NM_004309.4	NP_001172007.1|NP_004300.1	P52565	GDIR1_HUMAN	Rho GDP dissociation inhibitor (GDI) alpha	7					cellular component movement (GO:0006928)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of axonogenesis (GO:0050772)|regulation of axonogenesis (GO:0050770)|regulation of protein localization (GO:0032880)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|semaphorin-plexin signaling pathway (GO:0071526)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)	GTPase activator activity (GO:0005096)|Rho GDP-dissociation inhibitor activity (GO:0005094)			endometrium(1)|lung(1)|prostate(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			GCTGCTCGGCTGTGGGCTCCT	0.647																																																0													67	57	60					17																	79827786		2203	4300	6503	SO:0001819	synonymous_variant	396			BC028333	CCDS11788.1, CCDS58609.1	17q25.3	2005-12-20				ENSG00000141522			678	protein-coding gene	gene with protein product		601925		GDIA1		9186513	Standard	NM_001185077		Approved	RHOGDI	uc002kbq.3	P52565		ENST00000269321.7:c.21A>C	chr17.hg19:g.79827786T>G			A8MXW0|B2R5X1|B4DDD3|B4DUV9|Q6IBM5	Silent	SNP	ENST00000269321.7	hg19	CCDS11788.1																																																																																				0.647	ARHGDIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441679.2	NM_004309		G	79827786	T	G	79827786	2	3	785	1	0	0	0	0	0	0	0	1	890	1567	55	5		5	ARHGDIA	17	79827786	Silent	SNP	T	TCGA-SX-A71U-01A-12D-A33Q-10	163879	79827786	1367424	85	46628											
TEX19	400629	hgsc.bcm.edu	37	17	80320408	80320408	+	Nonsense_Mutation	SNP	G	G	T			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr17:80320408G>T	ENST00000333437.4	+	2	692	c.382G>T	c.(382-384)Gag>Tag	p.E128*		NM_207459.3	NP_997342.1	Q8NA77	TEX19_HUMAN	testis expressed 19	128					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6						ATGGCCTCAGGAGGCTGTGCC	0.617																																																0													74	73	74					17																	80320408		2203	4300	6503	SO:0001587	stop_gained	400629			BC016939	CCDS11809.1	17q25.3	2009-04-14			ENSG00000182459	ENSG00000182459			33802	protein-coding gene	gene with protein product		615647					Standard	NM_207459		Approved	FLJ35767	uc002keq.3	Q8NA77	OTTHUMG00000132857	ENST00000333437.4:c.382G>T	chr17.hg19:g.80320408G>T	ENSP00000331500:p.Glu128*			Nonsense_Mutation	SNP	ENST00000333437.4	hg19	CCDS11809.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.290355	0.59976	.	.	ENSG00000182459	ENST00000333437	.	.	.	3.79	1.79	0.24919	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999993	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-12.0754	6.2075	0.20610	0.2189:0.0:0.7811:0.0	.	.	.	.	X	128	.	ENSP00000331500:E128X	E	+	1	0	TEX19	77913697	0.004000	0.15560	0.106000	0.21319	0.007000	0.05969	0.207000	0.17395	0.560000	0.29169	0.563000	0.77884	GAG		0.617	TEX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256331.1	NM_207459		T	80320408	G	T	80320408	4	4	785	1	0	0	0	0	0	1	0	0	15785	1175	41	4	384	4	TEX19	17	80320408	Nonsense_Mutation	SNP	G	TCGA-SX-A71U-01A-12D-A33Q-10	492622	80320408	874802	86	46629											
NEDD4L	23327	hgsc.bcm.edu	37	18	56050535	56050535	+	Nonsense_Mutation	SNP	A	A	T			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr18:56050535A>T	ENST00000400345.3	+	25	2693	c.2410A>T	c.(2410-2412)Aaa>Taa	p.K804*	NEDD4L_ENST00000431212.2_Nonsense_Mutation_p.K683*|NEDD4L_ENST00000357895.5_Nonsense_Mutation_p.K796*|NEDD4L_ENST00000586263.1_Nonsense_Mutation_p.K776*|NEDD4L_ENST00000256830.9_Nonsense_Mutation_p.K700*|NEDD4L_ENST00000435432.2_Nonsense_Mutation_p.K663*|NEDD4L_ENST00000456173.2_Nonsense_Mutation_p.K663*|NEDD4L_ENST00000382850.4_Nonsense_Mutation_p.K784*|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000456986.1_Nonsense_Mutation_p.K683*|NEDD4L_ENST00000356462.6_Nonsense_Mutation_p.K740*|NEDD4L_ENST00000256832.7_Nonsense_Mutation_p.K664*	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	804	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cellular sodium ion homeostasis (GO:0006883)|excretion (GO:0007588)|gene expression (GO:0010467)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of systemic arterial blood pressure (GO:0003085)|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 cation channel activity (GO:2001259)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of sodium ion transport (GO:0010765)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|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 depolarization (GO:0003254)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of protein catabolic process (GO:0042176)|regulation of tight junction assembly (GO:2000810)|response to metal ion (GO:0010038)|response to salt stress (GO:0009651)|sodium ion transport (GO:0006814)|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)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|ventricular cardiac muscle cell action potential (GO:0086005)|viral life cycle (GO:0019058)|viral process (GO:0016032)|water homeostasis (GO:0030104)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ion channel binding (GO:0044325)|ligase activity (GO:0016874)|potassium channel inhibitor activity (GO:0019870)|potassium channel regulator activity (GO:0015459)|sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						AAATGAAAACAAAAGGGAATA	0.343																																																0													112	103	106					18																	56050535		1845	4049	5894	SO:0001587	stop_gained	23327			AF210730	CCDS45872.1, CCDS45873.1, CCDS45874.1, CCDS45875.1, CCDS45876.1, CCDS58632.1, CCDS59323.1	18q21.31	2014-08-12	2012-02-23		ENSG00000049759				7728	protein-coding gene	gene with protein product		606384	"neural precursor cell expressed, developmentally down-regulated 4-like"			10594025, 11244092, 18322022	Standard	NM_001144965		Approved	KIAA0439, RSP5, NEDD4-2	uc002lgy.3	Q96PU5	OTTHUMG00000179875	ENST00000400345.3:c.2410A>T	chr18.hg19:g.56050535A>T	ENSP00000383199:p.Lys804*		O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	Nonsense_Mutation	SNP	ENST00000400345.3	hg19	CCDS45872.1	.	.	.	.	.	.	.	.	.	.	A	45	11.885282	0.99613	.	.	ENSG00000049759	ENST00000400345;ENST00000382850;ENST00000356462;ENST00000256830;ENST00000256832;ENST00000456986;ENST00000357895;ENST00000435432;ENST00000456173;ENST00000431212	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.9462	0.79796	1.0:0.0:0.0:0.0	.	.	.	.	X	804;784;740;700;664;683;796;663;663;683	.	ENSP00000256830:K700X	K	+	1	0	NEDD4L	54201515	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.681000	0.91228	2.242000	0.73789	0.528000	0.53228	AAA		0.343	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448749.1			T	56050535	A	T	56050535	4	4	785	1	0	0	0	0	0	1	0	0	10313	131	5	5	2536	5	NEDD4L	18	56050535	Nonsense_Mutation	SNP	A	TCGA-SX-A71U-01A-12D-A33Q-10		56050535	22026713	87	46630											
ARRDC5	645432	hgsc.bcm.edu	37	19	4891365	4891365	+	Missense_Mutation	SNP	C	C	T			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr19:4891365C>T	ENST00000381781.2	-	3	721	c.722G>A	c.(721-723)cGg>cAg	p.R241Q	AC027319.1_ENST00000408608.1_RNA	NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	241										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)		CCGAGACCGCCGCTCTGCACT	0.587																																																0													62	72	68					19																	4891365		2088	4212	6300	SO:0001583	missense	645432				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.722G>A	chr19.hg19:g.4891365C>T	ENSP00000371200:p.Arg241Gln			Missense_Mutation	SNP	ENST00000381781.2	hg19	CCDS45929.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.777714	0.31502	.	.	ENSG00000205784	ENST00000381781	T	0.18960	2.18	4.92	1.6	0.23607	Immunoglobulin E-set (1);Arrestin-like, C-terminal (1);	1.356790	0.05157	N	0.497009	T	0.15609	0.0376	L	0.29908	0.895	0.19300	N	0.999972	B	0.32396	0.369	B	0.23419	0.046	T	0.28933	-1.0028	10	0.44086	T	0.13	-14.9505	8.5502	0.33447	0.0:0.7431:0.0:0.2569	.	241	A6NEK1	ARRD5_HUMAN	Q	241	ENSP00000371200:R241Q	ENSP00000371200:R241Q	R	-	2	0	ARRDC5	4842365	0.028000	0.19301	0.021000	0.16686	0.004000	0.04260	-0.061000	0.11693	0.339000	0.23719	-0.140000	0.14226	CGG		0.587	ARRDC5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450443.1	XM_292803		T	4891365	C	T	4891365	3	4	785	1	0	0	0	0	1	0	0	0	986	652	23	1	310	1	ARRDC5	19	4891365	Missense_Mutation	SNP	C	TCGA-SX-A71U-01A-12D-A33Q-10		4891365	54237618	88	46631											
TSSK6	51079	hgsc.bcm.edu	37	19	19625679	19625679	+	5'Flank	SNP	G	G	T			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr19:19625679G>T	ENST00000507754.4	+	0	0				NDUFA13_ENST00000252576.5_5'Flank|NDUFA13_ENST00000428459.2_5'Flank|CTC-260F20.3_ENST00000555938.1_5'Flank|TSSK6_ENST00000360913.3_Silent_p.I186I|TSSK6_ENST00000585580.3_Silent_p.I186I|NDUFA13_ENST00000503283.1_5'Flank|YJEFN3_ENST00000608404.1_5'Flank|NDUFA13_ENST00000512771.3_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						GGTCGTAGGGGATGCCCAGGA	0.662																																																0													50	37	42					19																	19625679		2203	4300	6503	SO:0001631	upstream_gene_variant	83983			AF261134	CCDS12404.1, CCDS12404.2	19p13.11	2011-07-04			ENSG00000186010	ENSG00000186010		"Mitochondrial respiratory chain complex / Complex I"	17194	protein-coding gene	gene with protein product	"complex I B16.6 subunit"	609435				12837546, 10924506, 15367666	Standard	NM_015965		Approved	CGI-39, CDA016, GRIM-19, GRIM19, B16.6		Q9P0J0	OTTHUMG00000162211		chr19.hg19:g.19625679G>T	Exception_encountered		B4DF76|K7EK58|Q6PKI0|Q9H2L3|Q9Y327	Silent	SNP	ENST00000507754.4	hg19	CCDS12404.2																																																																																				0.662	NDUFA13-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367916.6	NM_015965		T	19625679	G	T	19625679	1	4	785	0	1	0	0	0	0	0	0	0	16677	1164	41	4		4	TSSK6	19	19625679	5'Flank	SNP	G	TCGA-SX-A71U-01A-12D-A33Q-10	14734314	19625679	39503304	89	46632											
ZNF681	148213	hgsc.bcm.edu	37	19	23927682	23927682	+	Missense_Mutation	SNP	T	T	G			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr19:23927682T>G	ENST00000402377.3	-	4	811	c.670A>C	c.(670-672)Aaa>Caa	p.K224Q	ZNF681_ENST00000395385.3_Missense_Mutation_p.K155Q	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)				ATGTACGATTTCTCTCCAATA	0.323																																																0													48	47	47					19																	23927682		2203	4299	6502	SO:0001583	missense	148213			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.670A>C	chr19.hg19:g.23927682T>G	ENSP00000384000:p.Lys224Gln		B3KVF7	Missense_Mutation	SNP	ENST00000402377.3	hg19	CCDS12414.2	.	.	.	.	.	.	.	.	.	.	.	14.55	2.569056	0.45798	.	.	ENSG00000196172	ENST00000402377;ENST00000395385	T;T	0.54071	0.59;2.06	1.62	1.62	0.23740	Zinc finger, C2H2 (1);	.	.	.	.	T	0.69513	0.3119	M	0.88906	2.99	0.22305	N	0.999218	D	0.71674	0.998	D	0.67103	0.949	T	0.56817	-0.7916	9	0.87932	D	0	.	3.4119	0.07361	0.0:0.235:0.0:0.765	.	224	Q96N22	ZN681_HUMAN	Q	224;155	ENSP00000384000:K224Q;ENSP00000378783:K155Q	ENSP00000378783:K155Q	K	-	1	0	ZNF681	23719522	0.841000	0.29509	0.004000	0.12327	0.011000	0.07611	2.723000	0.47277	0.722000	0.32252	0.372000	0.22366	AAA		0.323	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320248.2	NM_138286		G	23927682	T	G	23927682	3	3	785	1	0	0	0	0	1	0	0	0	18093	1792	62	5	1271	5	ZNF681	19	23927682	Missense_Mutation	SNP	T	TCGA-SX-A71U-01A-12D-A33Q-10	4302003	23927682	35201301	90	46633											
CD3EAP	10849	hgsc.bcm.edu	37	19	45912507	45912507	+	Silent	SNP	G	G	A	rs200430601		TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr19:45912507G>A	ENST00000309424.3	+	3	1769	c.1281G>A	c.(1279-1281)aaG>aaA	p.K427K	ERCC1_ENST00000300853.3_3'UTR|ERCC1_ENST00000588738.1_5'Flank|PPP1R13L_ENST00000418234.2_5'Flank|CD3EAP_ENST00000589804.1_Silent_p.K429K|ERCC1_ENST00000423698.2_3'UTR	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	427	Poly-Lys.				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)		agaagaagaagaaagagaGAG	0.582																																																0													41	49	46					19																	45912507		2201	4296	6497	SO:0001819	synonymous_variant	10849			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.1281G>A	chr19.hg19:g.45912507G>A			Q32N11|Q7Z5U2|Q9UPF6	Silent	SNP	ENST00000309424.3	hg19	CCDS12661.1																																																																																				0.582	CD3EAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459538.1	NM_012099		A	45912507	G	A	45912507	2	1	785	1	0	0	0	0	0	0	0	1	3014	933	33	2		2	CD3EAP	19	45912507	Silent	SNP	G	TCGA-SX-A71U-01A-12D-A33Q-10	21984825	45912507	13216476	91	46634											
ZFP64	55734	hgsc.bcm.edu	37	20	50701317	50701318	+	Frame_Shift_Ins	INS	-	-	G			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr20:50701317_50701318insG	ENST00000361387.2	-	9	1776_1777	c.1716_1717insC	c.(1714-1719)gccaagfs	p.K573fs	ZFP64_ENST00000371523.4_Frame_Shift_Ins_p.K354fs|ZFP64_ENST00000371518.2_Intron	NM_199427.2	NP_955459.2	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	418					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						GTCACGATCTTGGCCACGTGCT	0.629																																																0																																										SO:0001589	frameshift_variant	55734			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.1717dupC	chr20.hg19:g.50701319_50701319dupG	ENSP00000355179:p.Lys573fs		Q9NTS7|Q9NVH4	Frame_Shift_Ins	INS	ENST00000361387.2	hg19	CCDS13439.1																																																																																				0.629	ZFP64-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079743.2	NM_018197		G	50701318	-	G	50701317	7	5	785	1	0	1	1	0	0	0	0	0	17657	1821	63	0	224	0	ZFP64	20	50701317	Frame_Shift_Ins	INS	-	TCGA-SX-A71U-01A-12D-A33Q-10		50701317	12324203	92	46635											
NFAM1	150372	hgsc.bcm.edu	37	22	42781205	42781205	+	Missense_Mutation	SNP	C	C	A			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chr22:42781205C>A	ENST00000329021.5	-	6	812	c.775G>T	c.(775-777)Gat>Tat	p.D259Y		NM_145912.5	NP_666017.1	Q8NET5	NFAM1_HUMAN	NFAT activating protein with ITAM motif 1	259					B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of cytokine production (GO:0001819)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of B cell differentiation (GO:0045577)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			large_intestine(1)|lung(3)	4						TCGCCATCATCTTCGAATCTA	0.493																																																0													121	127	125					22																	42781205		2203	4300	6503	SO:0001583	missense	150372			BC038241	CCDS14034.1	22q13.2	2005-02-01			ENSG00000235568	ENSG00000235568			29872	protein-coding gene	gene with protein product		608740				12615919	Standard	NM_145912		Approved	CNAIP	uc003bcn.4	Q8NET5	OTTHUMG00000150923	ENST00000329021.5:c.775G>T	chr22.hg19:g.42781205C>A	ENSP00000333680:p.Asp259Tyr		B0QYD0|Q20WL2|Q5JZ96|Q8IUY8|Q8TEM8	Missense_Mutation	SNP	ENST00000329021.5	hg19	CCDS14034.1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.434821	0.43224	.	.	ENSG00000235568	ENST00000329021	T	0.46819	0.86	4.38	2.25	0.28309	.	0.629307	0.12632	U	0.452079	T	0.57489	0.2057	L	0.50333	1.59	0.09310	N	1	D	0.76494	0.999	D	0.66979	0.948	T	0.42599	-0.9442	10	0.72032	D	0.01	-1.9549	7.6212	0.28187	0.0:0.7942:0.0:0.2058	.	259	Q8NET5	NFAM1_HUMAN	Y	259	ENSP00000333680:D259Y	ENSP00000333680:D259Y	D	-	1	0	NFAM1	41111149	0.000000	0.05858	0.005000	0.12908	0.002000	0.02628	0.206000	0.17375	0.554000	0.29061	0.561000	0.74099	GAT		0.493	NFAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320541.1	NM_145912		A	42781205	C	A	42781205	3	1	785	1	0	0	0	0	1	0	0	0	10360	913	32	4	41	4	NFAM1	22	42781205	Missense_Mutation	SNP	C	TCGA-SX-A71U-01A-12D-A33Q-10		42781205	8523361	93	46636											
CXorf22	170063	hgsc.bcm.edu	37	X	35994031	35994032	+	Splice_Site	INS	-	-	T			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chrX:35994031_35994032insT	ENST00000297866.5	+	15	2779		c.e15+1			NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22											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						CCAGCTAAAGGTAACAGTTTAT	0.332																																																0																																										SO:0001630	splice_region_variant	170063			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.2713+1->T	chrX.hg19:g.35994032_35994032dupT			Q5JRM8|Q8N6X8	Splice_Site	INS	ENST00000297866.5	hg19	CCDS14237.2																																																																																				0.332	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632	Intron	T	35994032	-	T	35994031	8	5	785	1	0	1	1	0	0	0	1	0	4104	1275	44	0	2772	0	CXorf22	23	35994031	Splice_Site	INS	-	TCGA-SX-A71U-01A-12D-A33Q-10		35994031	119276529	94	46637											
CXorf38	159013	hgsc.bcm.edu	37	X	40496278	40496278	+	Missense_Mutation	SNP	A	A	G			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chrX:40496278A>G	ENST00000327877.5	-	4	628	c.602T>C	c.(601-603)gTa>gCa	p.V201A	CXorf38_ENST00000378426.1_Missense_Mutation_p.V82A|CXorf38_ENST00000378421.1_Missense_Mutation_p.V82A|CXorf38_ENST00000440784.2_Missense_Mutation_p.V116A	NM_144970.2	NP_659407.1	Q8TB03	CX038_HUMAN	chromosome X open reading frame 38	201										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	12						TCTGGAGTATACTGCCACAAT	0.353																																																0													78	73	75					X																	40496278		2202	4300	6502	SO:0001583	missense	159013			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.602T>C	chrX.hg19:g.40496278A>G	ENSP00000330488:p.Val201Ala		B3KW28|D3DWB5|Q5JPF5|Q8N941	Missense_Mutation	SNP	ENST00000327877.5	hg19	CCDS14253.1	.	.	.	.	.	.	.	.	.	.	A	3.196	-0.164851	0.06502	.	.	ENSG00000185753	ENST00000378426;ENST00000327877;ENST00000378421;ENST00000440784	T;T;T;T	0.39056	1.1;1.1;1.1;1.1	4.84	-0.221	0.13126	.	0.908091	0.09387	N	0.809142	T	0.22399	0.0540	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.28459	-1.0043	10	0.11182	T	0.66	-0.1447	4.6716	0.12692	0.3284:0.0:0.4847:0.1869	.	116;201	E7EN46;Q8TB03	.;CX038_HUMAN	A	82;201;82;116	ENSP00000367683:V82A;ENSP00000330488:V201A;ENSP00000367677:V82A;ENSP00000400019:V116A	ENSP00000330488:V201A	V	-	2	0	CXorf38	40381222	0.001000	0.12720	0.010000	0.14722	0.944000	0.59088	1.064000	0.30579	-0.051000	0.13334	0.345000	0.21793	GTA		0.353	CXorf38-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060685.3	NM_144970		G	40496278	A	G	40496278	3	3	785	1	0	0	0	0	1	0	0	0	4109	391	14	3	369	3	CXorf38	23	40496278	Missense_Mutation	SNP	A	TCGA-SX-A71U-01A-12D-A33Q-10	4502247	40496278	114774282	95	46638											
TSPYL2	64061	hgsc.bcm.edu	37	X	53112145	53112145	+	Silent	SNP	G	G	C			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chrX:53112145G>C	ENST00000375442.4	+	1	597	c.465G>C	c.(463-465)gcG>gcC	p.A155A		NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	155					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|chromatin modification (GO:0016568)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA replication (GO:0008156)|nucleosome assembly (GO:0006334)|regulation of protein kinase activity (GO:0045859)|regulation of signal transduction (GO:0009966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	rDNA binding (GO:0000182)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						TGGGGTGGGCGCCCCAGAGGT	0.582																																																0													25	24	24					X																	53112145		2202	4299	6501	SO:0001819	synonymous_variant	64061			AF273046	CCDS14350.1	Xp11	2014-06-09			ENSG00000184205	ENSG00000184205			24358	protein-coding gene	gene with protein product		300564				11318608, 11395479	Standard	NM_022117		Approved	SE20-4, HRIHFB2216, CTCL, DENTT, CDA1, CINAP, TSPX	uc004drw.3	Q9H2G4	OTTHUMG00000021597	ENST00000375442.4:c.465G>C	chrX.hg19:g.53112145G>C			O94799|Q96DG7|Q9BZW6	Silent	SNP	ENST00000375442.4	hg19	CCDS14350.1																																																																																				0.582	TSPYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056718.1	NM_022117		C	53112145	G	C	53112145	2	2	785	1	0	0	0	0	0	0	0	1	16665	1074	38	4		4	TSPYL2	23	53112145	Silent	SNP	G	TCGA-SX-A71U-01A-12D-A33Q-10	12615867	53112145	102158415	96	46639											
AR	367	hgsc.bcm.edu	37	X	66765164	66765164	+	Missense_Mutation	SNP	A	A	T			TCGA-SX-A71U-01A-12D-A33Q-10	TCGA-SX-A71U-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3d451356-8c58-451d-a6cf-223e76cae191	2c6bb397-d986-49b1-b1dc-1151c8aae19f	g.chrX:66765164A>T	ENST00000374690.3	+	1	700	c.176A>T	c.(175-177)cAg>cTg	p.Q59L	AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Missense_Mutation_p.Q59L|AR_ENST00000504326.1_Missense_Mutation_p.Q59L	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	59	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)			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)	CTGCTgcagcagcagcagcag	0.677									Androgen Insensitivity Syndrome																																							0													7	10	9					X																	66765164		2055	4063	6118	SO:0001583	missense	367	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"Nuclear hormone receptors"	644	protein-coding gene	gene with protein product	"testicular feminization", "Kennedy disease"	313700	"dihydrotestosterone receptor", "spinal and bulbar muscular atrophy"	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.176A>T	chrX.hg19:g.66765164A>T	ENSP00000363822:p.Gln59Leu		A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	ENST00000374690.3	hg19	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	a	12.32	1.901651	0.33535	.	.	ENSG00000169083	ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	T;T;T	0.69175	-0.38;-0.38;-0.38	.	.	.	.	1.117170	0.06949	N	0.814177	T	0.47060	0.1425	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	0.31724	-0.9933	8	0.13108	T	0.6	.	.	.	.	.	59;59	E7EVX6;D3YPQ2	.;.	L	59	ENSP00000363822:Q59L;ENSP00000421155:Q59L;ENSP00000379359:Q59L	ENSP00000363822:Q59L	Q	+	2	0	AR	66681889	0.995000	0.38212	0.864000	0.33941	0.503000	0.33858	0.245000	0.18142	0.000000	0.14550	0.000000	0.15137	CAG		0.677	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		T	66765164	A	T	66765164	3	4	785	1	0	0	0	0	1	0	0	0	836	188	7	5	178	5	AR	23	66765164	Missense_Mutation	SNP	A	TCGA-SX-A71U-01A-12D-A33Q-10	13653019	66765164	88505396	97	46640											
NIPAL3	57185	hgsc.bcm.edu	37	1	24768627	24768627	+	Missense_Mutation	SNP	T	T	A			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr1:24768627T>A	ENST00000374399.4	+	4	613	c.245T>A	c.(244-246)cTg>cAg	p.L82Q	NIPAL3_ENST00000358028.4_Missense_Mutation_p.L82Q|NIPAL3_ENST00000428131.1_Missense_Mutation_p.L82Q|NIPAL3_ENST00000003912.3_5'UTR|NIPAL3_ENST00000339255.2_Missense_Mutation_p.L82Q	NM_020448.4	NP_065181.1	Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	82						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						GGCCTGTTCCTGATGCTTCTG	0.582																																																0													125	113	117					1																	24768627		2203	4300	6503	SO:0001583	missense	57185			BX640883	CCDS30631.1	1p36.12-p35.1	2009-03-24		2009-03-24	ENSG00000001461	ENSG00000001461			25233	protein-coding gene	gene with protein product				NPAL3		8619474, 9110174	Standard	NM_020448		Approved	DJ462O23.2	uc001bjh.3	Q6P499	OTTHUMG00000003299	ENST00000374399.4:c.245T>A	chr1.hg19:g.24768627T>A	ENSP00000363520:p.Leu82Gln		A2A298|Q6MZT9|Q9BVE6	Missense_Mutation	SNP	ENST00000374399.4	hg19	CCDS30631.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.499788	0.85176	.	.	ENSG00000001461	ENST00000374399;ENST00000358028;ENST00000339255;ENST00000428131	T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55	5.22	4.09	0.47781	.	0.139109	0.49305	D	0.000159	D	0.85435	0.5696	M	0.89601	3.045	0.54753	D	0.999985	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.86798	0.1990	10	0.72032	D	0.01	-13.663	11.2516	0.49028	0.0:0.0724:0.0:0.9276	.	82;82;82	Q6P499-3;Q6P499;A6NN97	.;NPAL3_HUMAN;.	Q	82	ENSP00000363520:L82Q;ENSP00000350722:L82Q;ENSP00000343549:L82Q;ENSP00000406509:L82Q	ENSP00000343549:L82Q	L	+	2	0	NIPAL3	24641214	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.253000	0.78320	0.911000	0.36747	0.533000	0.62120	CTG		0.582	NIPAL3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276996.1	NM_020448		A	24768627	T	A	24768627	3	1	786	1	0	0	0	0	1	0	0	0	10428	1580	55	5	255	5	NIPAL3	1	24768627	Missense_Mutation	SNP	T	TCGA-SX-A71V-01A-11D-A33Q-10		24768627	224481994	1	46641											
TNNI3K	100526835	hgsc.bcm.edu	37	1	74808658	74808658	+	Missense_Mutation	SNP	C	C	A			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr1:74808658C>A	ENST00000370899.3	+	10	1155	c.1118C>A	c.(1117-1119)aCc>aAc	p.T373N	TNNI3K_ENST00000326637.3_Missense_Mutation_p.T272N|FPGT-TNNI3K_ENST00000370895.1_Missense_Mutation_p.T373N|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.T386N|TNNI3K_ENST00000370891.2_Missense_Mutation_p.T373N|RP11-439H8.4_ENST00000415549.2_RNA	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough																		TATGGAGATACCCCCTTACAC	0.363																																																0													171	158	162					1																	74808658		2203	4300	6503	SO:0001583	missense	100526835					1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.1118C>A	chr1.hg19:g.74808658C>A	ENSP00000359936:p.Thr373Asn			Missense_Mutation	SNP	ENST00000370899.3	hg19		.	.	.	.	.	.	.	.	.	.	C	22.9	4.352277	0.82132	.	.	ENSG00000259030;ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000370899;ENST00000370895;ENST00000557284;ENST00000370891;ENST00000326637	T;T;T;T;T	0.75050	-0.83;-0.83;-0.9;-0.9;-0.83	5.77	5.77	0.91146	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.88396	0.6425	M	0.89785	3.06	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;0.996	D	0.89504	0.3766	10	0.72032	D	0.01	.	19.9928	0.97374	0.0:1.0:0.0:0.0	.	272;373;373;373	Q59H18;Q59H18-1;Q59H18-4;Q59H18-3	TNI3K_HUMAN;.;.;.	N	373;373;373;373;272	ENSP00000359936:T373N;ENSP00000359932:T373N;ENSP00000450895:T373N;ENSP00000359928:T373N;ENSP00000322251:T272N	ENSP00000322251:T272N	T	+	2	0	RP11-653A5.2;AC093158.1	74581246	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	5.551000	0.67274	2.745000	0.94114	0.650000	0.86243	ACC		0.363	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000026438.3			A	74808658	C	A	74808658	3	1	786	1	0	0	0	0	1	0	0	0	16334	507	18	4	1200	4	TNNI3K	1	74808658	Missense_Mutation	SNP	C	TCGA-SX-A71V-01A-11D-A33Q-10	50040031	74808658	174441963	2	46642											
WNT2B	7482	hgsc.bcm.edu	37	1	113058824	113058824	+	Missense_Mutation	SNP	C	C	A			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr1:113058824C>A	ENST00000369684.4	+	3	951	c.466C>A	c.(466-468)Cgc>Agc	p.R156S	WNT2B_ENST00000256640.5_Missense_Mutation_p.R64S|WNT2B_ENST00000478360.1_3'UTR|RP4-671G15.2_ENST00000608357.1_RNA|WNT2B_ENST00000369686.5_Missense_Mutation_p.R137S	NM_024494.2	NP_078613.1	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family, member 2B	156					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to starvation (GO:0009267)|chondrocyte differentiation (GO:0002062)|cornea development in camera-type eye (GO:0061303)|forebrain regionalization (GO:0021871)|hematopoietic stem cell proliferation (GO:0071425)|iris morphogenesis (GO:0061072)|lens development in camera-type eye (GO:0002088)|lung induction (GO:0060492)|male gonad development (GO:0008584)|mesenchymal-epithelial cell signaling (GO:0060638)|neuron differentiation (GO:0030182)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-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)		CGCTATTACTCGCGCCTGTAG	0.562																																																0													137	126	130					1																	113058824		2203	4300	6503	SO:0001583	missense	7482			AB045116	CCDS847.1, CCDS846.1	1p13	2008-07-18			ENSG00000134245	ENSG00000134245		"Wingless-type MMTV integration sites"	12781	protein-coding gene	gene with protein product	"XWNT2, Xenopus, homolog of", "wingless-type MMTV integration site family, member 13"	601968		WNT13		8761309, 10944466	Standard	NM_024494		Approved	XWNT2	uc001ecb.3	Q93097	OTTHUMG00000011157	ENST00000369684.4:c.466C>A	chr1.hg19:g.113058824C>A	ENSP00000358698:p.Arg156Ser		O14903|Q5TEH9|Q5TEI2|Q9HDC1|Q9HDC2	Missense_Mutation	SNP	ENST00000369684.4	hg19	CCDS847.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.562764	0.86335	.	.	ENSG00000134245	ENST00000256640;ENST00000369686;ENST00000369684	T;T;T	0.77358	-1.09;-1.09;-1.09	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.89504	0.6734	M	0.90309	3.105	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.987	D	0.90387	0.4392	10	0.59425	D	0.04	.	19.2708	0.94008	0.0:1.0:0.0:0.0	.	156;137	Q93097;Q93097-2	WNT2B_HUMAN;.	S	64;137;156	ENSP00000256640:R64S;ENSP00000358700:R137S;ENSP00000358698:R156S	ENSP00000256640:R64S	R	+	1	0	WNT2B	112860347	0.939000	0.31865	0.998000	0.56505	0.953000	0.61014	2.076000	0.41548	2.644000	0.89710	0.561000	0.74099	CGC		0.562	WNT2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030692.1	NM_004185		A	113058824	C	A	113058824	3	1	786	1	0	0	0	0	1	0	0	0	17392	884	31	4	609	4	WNT2B	1	113058824	Missense_Mutation	SNP	C	TCGA-SX-A71V-01A-11D-A33Q-10	38250166	113058824	136191797	3	46643											
PGLYRP3	114771	hgsc.bcm.edu	37	1	153283087	153283087	+	Splice_Site	SNP	C	C	T	rs375220818		TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr1:153283087C>T	ENST00000290722.1	-	1	107	c.55G>A	c.(55-57)Gat>Aat	p.D19N		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	19					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)			TAAAACTTACCCCAAGCCTGG	0.493																																																0													149	154	152					1																	153283087		2203	4300	6503	SO:0001630	splice_region_variant	114771			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.55+1G>A	chr1.hg19:g.153283087C>T			A1A4U8|Q5SY65	Missense_Mutation	SNP	ENST00000290722.1	hg19	CCDS1035.1	.	.	.	.	.	.	.	.	.	.	C	11.31	1.601956	0.28534	.	.	ENSG00000159527	ENST00000290722	T	0.07444	3.19	3.22	1.35	0.21983	N-acetylmuramoyl-L-alanine amidase domain (1);	0.794118	0.10474	N	0.670413	T	0.02380	0.0073	L	0.48642	1.525	0.21445	N	0.999685	P	0.37688	0.605	B	0.35413	0.202	T	0.44559	-0.9320	9	.	.	.	.	5.3598	0.16081	0.0:0.735:0.0:0.265	.	19	Q96LB9	PGRP3_HUMAN	N	19	ENSP00000290722:D19N	.	D	-	1	0	PGLYRP3	151549711	0.958000	0.32768	0.703000	0.30354	0.007000	0.05969	2.781000	0.47750	0.374000	0.24650	-0.136000	0.14681	GAT		0.493	PGLYRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039488.1	NM_052891	Missense_Mutation	T	153283087	C	T	153283087	5	4	786	1	0	0	0	0	0	0	1	0	11797	637	22	2	998	2	PGLYRP3	1	153283087	Splice_Site	SNP	C	TCGA-SX-A71V-01A-11D-A33Q-10	40224263	153283087	95967534	4	46644											
NUP210L	91181	hgsc.bcm.edu	37	1	153974267	153974267	+	Missense_Mutation	SNP	G	G	C			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr1:153974267G>C	ENST00000368559.3	-	36	5196	c.5125C>G	c.(5125-5127)Caa>Gaa	p.Q1709E	NUP210L_ENST00000368553.1_Intron|NUP210L_ENST00000271854.3_Intron	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1709					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)			CCGATATCTTGTTTGTGGCTA	0.413																																																0													238	220	225					1																	153974267		1876	4114	5990	SO:0001583	missense	91181			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.5125C>G	chr1.hg19:g.153974267G>C	ENSP00000357547:p.Gln1709Glu		E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	hg19	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	G	1.526	-0.545710	0.04024	.	.	ENSG00000143552	ENST00000368559	T	0.04917	3.53	4.28	-0.146	0.13432	.	0.968910	0.08488	N	0.938435	T	0.01765	0.0056	L	0.44542	1.39	0.09310	N	1	B	0.13594	0.008	B	0.14578	0.011	T	0.46652	-0.9176	10	0.28530	T	0.3	-35.7249	7.2674	0.26237	0.0:0.2873:0.3793:0.3334	.	1709	Q5VU65	P210L_HUMAN	E	1709	ENSP00000357547:Q1709E	ENSP00000357547:Q1709E	Q	-	1	0	NUP210L	152240891	0.768000	0.28519	0.000000	0.03702	0.250000	0.25880	1.989000	0.40707	-0.207000	0.10187	0.561000	0.74099	CAA		0.413	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		C	153974267	G	C	153974267	3	2	786	1	0	0	0	0	1	0	0	0	10763	1386	48	4	561	4	NUP210L	1	153974267	Missense_Mutation	SNP	G	TCGA-SX-A71V-01A-11D-A33Q-10	691180	153974267	95276354	5	46645											
HAX1	10456	hgsc.bcm.edu	37	1	154247707	154247707	+	Missense_Mutation	SNP	T	T	C			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr1:154247707T>C	ENST00000328703.7	+	5	847	c.634T>C	c.(634-636)Tct>Cct	p.S212P	HAX1_ENST00000532105.1_Missense_Mutation_p.S84P|HAX1_ENST00000483970.2_Missense_Mutation_p.S220P|HAX1_ENST00000457918.2_Missense_Mutation_p.S164P	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	212	Involved in ATP2A2 binding.|Involved in GNA13 binding.|Involved in HCLS1 binding.|Involved in PKD2 binding.|Involved in PLN binding.|Required for localization in sarcoplasmic reticulum. {ECO:0000250}.				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)			CAAGAGCATCTCTGTGACCAA	0.488									Kostmann syndrome																																							0													71	72	72					1																	154247707		2203	4300	6503	SO:0001583	missense	10456	Familial Cancer Database	Kostmann Infantile Agranulocytosis, Severe Congenital Neutropenia, Congenital Agranulocytosis	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.634T>C	chr1.hg19:g.154247707T>C	ENSP00000329002:p.Ser212Pro		A8W4W9|A8W4X0|B4DUJ7|Q5VYD5|Q5VYD7|Q96AU4|Q9BS80	Missense_Mutation	SNP	ENST00000328703.7	hg19	CCDS1064.1	.	.	.	.	.	.	.	.	.	.	T	18.40	3.614964	0.66672	.	.	ENSG00000143575	ENST00000328703;ENST00000457918;ENST00000483970;ENST00000435087;ENST00000532105	T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19	5.6	4.46	0.54185	.	0.415528	0.25233	N	0.032160	T	0.68860	0.3047	M	0.80183	2.485	0.41243	D	0.98665	D;D;D;D	0.67145	0.984;0.996;0.996;0.992	P;D;D;P	0.63703	0.828;0.917;0.917;0.882	T	0.73949	-0.3821	10	0.87932	D	0	-19.8327	9.6673	0.39992	0.1554:0.0:0.0:0.8446	.	220;186;164;212	O00165-2;O00165-3;O00165-5;O00165	.;.;.;HAX1_HUMAN	P	212;164;220;216;84	ENSP00000329002:S212P;ENSP00000411448:S164P;ENSP00000435088:S220P;ENSP00000394920:S216P;ENSP00000433951:S84P	ENSP00000329002:S212P	S	+	1	0	HAX1	152514331	1.000000	0.71417	0.996000	0.52242	0.962000	0.63368	1.873000	0.39558	0.918000	0.36919	0.460000	0.39030	TCT		0.488	HAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087650.1	NM_006118		C	154247707	T	C	154247707	3	2	786	1	0	0	0	0	1	0	0	0	6977	1551	54	3	652	3	HAX1	1	154247707	Missense_Mutation	SNP	T	TCGA-SX-A71V-01A-11D-A33Q-10	273440	154247707	95002914	6	46646											
KIAA1614	57710	hgsc.bcm.edu	37	1	180910417	180910417	+	Missense_Mutation	SNP	A	A	T			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr1:180910417A>T	ENST00000367588.4	+	7	3210	c.3155A>T	c.(3154-3156)cAc>cTc	p.H1052L	KIAA1614_ENST00000367587.1_Missense_Mutation_p.H673L|KIAA1614_ENST00000461346.1_3'UTR|RP11-46A10.5_ENST00000358073.2_RNA	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	1052	Ser-rich.									NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						CAATCCCTGCACCCGGTGAGT	0.627																																																0													28	33	31					1																	180910417		1953	4131	6084	SO:0001583	missense	57710			AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.3155A>T	chr1.hg19:g.180910417A>T	ENSP00000356560:p.His1052Leu		Q5VZ45|Q9HCF8	Missense_Mutation	SNP	ENST00000367588.4	hg19	CCDS41442.1	.	.	.	.	.	.	.	.	.	.	A	13.91	2.377776	0.42105	.	.	ENSG00000135835	ENST00000367588;ENST00000367587	T;T	0.25414	2.38;1.8	5.21	-1.02	0.10135	.	0.919516	0.09186	N	0.836801	T	0.21103	0.0508	L	0.44542	1.39	0.36487	D	0.868171	B;P	0.36535	0.403;0.557	B;B	0.36186	0.12;0.219	T	0.29941	-0.9995	9	0.46703	T	0.11	0.0845	9.023	0.36211	0.582:0.0:0.418:0.0	.	673;1052	Q5VZ46-2;Q5VZ46	.;K1614_HUMAN	L	1052;673	ENSP00000356560:H1052L;ENSP00000356559:H673L	ENSP00000356559:H673L	H	+	2	0	KIAA1614	179177040	0.007000	0.16637	0.097000	0.21041	0.888000	0.51559	-0.051000	0.11885	-0.214000	0.10078	0.459000	0.35465	CAC		0.627	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	XM_046531		T	180910417	A	T	180910417	3	4	786	1	0	0	0	0	1	0	0	0	8250	159	6	5	3181	5	KIAA1614	1	180910417	Missense_Mutation	SNP	A	TCGA-SX-A71V-01A-11D-A33Q-10	26662710	180910417	68340204	7	46647											
CACNA1E	777	hgsc.bcm.edu	37	1	181452978	181452978	+	Missense_Mutation	SNP	C	C	G			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr1:181452978C>G	ENST00000367573.2	+	1	98	c.98C>G	c.(97-99)tCg>tGg	p.S33W	CACNA1E_ENST00000358338.5_5'UTR|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000526775.1_Missense_Mutation_p.S33W|CACNA1E_ENST00000360108.3_Missense_Mutation_p.S33W|CACNA1E_ENST00000357570.5_5'UTR|CACNA1E_ENST00000367570.1_Missense_Mutation_p.S33W	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	33					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						GTGCCGGCCTCGGGGCAGGCG	0.662																																																0													44	52	49					1																	181452978		1866	4078	5944	SO:0001583	missense	777			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.98C>G	chr1.hg19:g.181452978C>G	ENSP00000356545:p.Ser33Trp		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	hg19	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.672842	0.47781	.	.	ENSG00000198216	ENST00000524607;ENST00000367570;ENST00000526775;ENST00000360108;ENST00000367573	D;D;D;D;D	0.97328	-4.34;-3.97;-3.93;-3.93;-3.97	5.67	5.67	0.87782	.	0.487945	0.18345	N	0.144056	D	0.94833	0.8331	L	0.29908	0.895	0.80722	D	1	D	0.55605	0.972	P	0.47134	0.539	D	0.94502	0.7710	10	0.87932	D	0	.	11.9558	0.52981	0.0:0.9198:0.0:0.0802	.	33	Q15878-3	.	W	33	ENSP00000432038:S33W;ENSP00000356542:S33W;ENSP00000434814:S33W;ENSP00000353222:S33W;ENSP00000356545:S33W	ENSP00000353222:S33W	S	+	2	0	CACNA1E	179719601	0.414000	0.25408	1.000000	0.80357	0.984000	0.73092	0.778000	0.26732	2.667000	0.90743	0.561000	0.74099	TCG		0.662	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		G	181452978	C	G	181452978	3	3	786	1	0	0	0	0	1	0	0	0	2544	893	31	4	100	4	CACNA1E	1	181452978	Missense_Mutation	SNP	C	TCGA-SX-A71V-01A-11D-A33Q-10	542561	181452978	67797643	8	46648											
KCNT2	343450	hgsc.bcm.edu	37	1	196303029	196303029	+	Frame_Shift_Del	DEL	C	C	-			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr1:196303029delC	ENST00000294725.9	-	17	2860	c.1945delG	c.(1945-1947)gacfs	p.D649fs	KCNT2_ENST00000609185.1_Frame_Shift_Del_p.D599fs|KCNT2_ENST00000367431.4_Frame_Shift_Del_p.D599fs|KCNT2_ENST00000367433.5_Frame_Shift_Del_p.D649fs|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_Frame_Shift_Del_p.D260fs			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	649					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						TCTGATTGGTCACTTAGAAGA	0.373																																																0													144	134	137					1																	196303029		2203	4300	6503	SO:0001589	frameshift_variant	343450			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.1945delG	chr1.hg19:g.196303029delC	ENSP00000294725:p.Asp649fs		Q3SY59|Q5VTN1|Q6ZMT3	Frame_Shift_Del	DEL	ENST00000294725.9	hg19	CCDS1384.1																																																																																				0.373	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		-	196303029	C	-	196303029	7	5	786	1	0	1	0	1	0	0	0	0	8094	826	29	0	1510	0	KCNT2	1	196303029	Frame_Shift_Del	DEL	C	TCGA-SX-A71V-01A-11D-A33Q-10	14850051	196303029	52947592	9	46649											
CR1	1378	hgsc.bcm.edu	37	1	207715843	207715848	+	In_Frame_Del	DEL	TGGCTT	TGGCTT	-			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	TGGCTT	TGGCTT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr1:207715843_207715848delTGGCTT	ENST00000367049.4	+	13	2154_2159	c.2154_2159delTGGCTT	c.(2152-2160)cctggcttt>cct	p.GF719del	CR1_ENST00000367052.1_In_Frame_Del_p.GF719del|CR1_ENST00000367053.1_Intron|CR1_ENST00000400960.2_In_Frame_Del_p.GF719del|CR1_ENST00000367050.4_Intron|CR1_ENST00000367051.1_In_Frame_Del_p.GF269del	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	269	Sushi 11. {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						GGTGTCAGCCTGGCTTTGTCATGAAA	0.49																																																0																																										SO:0001651	inframe_deletion	1378			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.2154_2159delTGGCTT	chr1.hg19:g.207715843_207715848delTGGCTT	ENSP00000356016:p.Gly719_Phe720del		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	In_Frame_Del	DEL	ENST00000367049.4	hg19	CCDS44308.1																																																																																				0.49	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		-	207715848	TGGCTT	-	207715843	7	5	786	1	0	1	0	1	0	0	0	0	3842	1567	55	0	2204	0	CR1	1	207715843	In_Frame_Del	DEL	TGGCTT	TCGA-SX-A71V-01A-11D-A33Q-10	11412814	207715843	41534778	10	46650											
CR1	1378	hgsc.bcm.edu	37	1	207734400	207734405	+	In_Frame_Del	DEL	TGGCTT	TGGCTT	-			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	TGGCTT	TGGCTT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr1:207734400_207734405delTGGCTT	ENST00000367049.4	+	21	3504_3509	c.3504_3509delTGGCTT	c.(3502-3510)cctggcttt>cct	p.GF1169del	CR1_ENST00000367052.1_Intron|CR1_ENST00000367053.1_In_Frame_Del_p.GF719del|CR1_ENST00000400960.2_Intron|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367051.1_In_Frame_Del_p.GF719del	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	719	Sushi 18. {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						GGTGTCAGCCTGGCTTTGTCATGAAA	0.49																																																0																																										SO:0001651	inframe_deletion	1378			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.3504_3509delTGGCTT	chr1.hg19:g.207734400_207734405delTGGCTT	ENSP00000356016:p.Gly1169_Phe1170del		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	In_Frame_Del	DEL	ENST00000367049.4	hg19	CCDS44308.1																																																																																				0.49	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		-	207734405	TGGCTT	-	207734400	7	5	786	1	0	1	0	1	0	0	0	0	3842	1567	55	0	3586	0	CR1	1	207734400	In_Frame_Del	DEL	TGGCTT	TCGA-SX-A71V-01A-11D-A33Q-10	18557	207734400	41516221	11	46651											
OBSCN	84033	hgsc.bcm.edu	37	1	228521014	228521017	+	Frame_Shift_Del	DEL	CAAG	CAAG	-			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	CAAG	CAAG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr1:228521014_228521017delCAAG	ENST00000422127.1	+	58	15890_15893	c.15846_15849delCAAG	c.(15844-15849)ctcaagfs	p.LK5282fs	OBSCN_ENST00000284548.11_Frame_Shift_Del_p.LK5282fs|OBSCN_ENST00000570156.2_Frame_Shift_Del_p.LK6239fs|OBSCN_ENST00000366709.4_Frame_Shift_Del_p.LK2401fs|OBSCN_ENST00000366707.4_Frame_Shift_Del_p.LK2916fs	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5282	Ig-like 50.				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)				AGTTCCAGCTCAAGGTGAAAGGTG	0.613																																																0																																										SO:0001589	frameshift_variant	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.15846_15849delCAAG	chr1.hg19:g.228521014_228521017delCAAG	ENSP00000409493:p.Leu5282fs		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Frame_Shift_Del	DEL	ENST00000422127.1	hg19	CCDS58065.1																																																																																				0.613	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		-	228521017	CAAG	-	228521014	7	5	786	1	0	1	0	1	0	0	0	0	10814	813	29	0	16072	0	OBSCN	1	228521014	Frame_Shift_Del	DEL	CAAG	TCGA-SX-A71V-01A-11D-A33Q-10	20786614	228521014	20729607	12	46652											
SIPA1L2	57568	hgsc.bcm.edu	37	1	232615472	232615472	+	Missense_Mutation	SNP	A	A	C			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr1:232615472A>C	ENST00000366630.1	-	6	2344	c.1986T>G	c.(1984-1986)gaT>gaG	p.D662E	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.D662E			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	662	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				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)				TGCCCGTGGAATCAGCTGAAA	0.408																																																0													134	144	141					1																	232615472		2082	4252	6334	SO:0001583	missense	57568			AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.1986T>G	chr1.hg19:g.232615472A>C	ENSP00000355589:p.Asp662Glu		Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	hg19	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.609252	0.87258	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	D;D	0.94232	-3.38;-3.38	5.54	0.415	0.16411	Rap/ran-GAP (2);	0.000000	0.85682	D	0.000000	D	0.95843	0.8647	M	0.85859	2.78	0.47341	D	0.999394	D	0.69078	0.997	D	0.72075	0.976	D	0.94353	0.7581	10	0.87932	D	0	-29.4799	9.2931	0.37800	0.7007:0.0:0.2993:0.0	.	662	Q9P2F8	SI1L2_HUMAN	E	662	ENSP00000355589:D662E;ENSP00000262861:D662E	ENSP00000262861:D662E	D	-	3	2	SIPA1L2	230682095	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.660000	0.37397	0.100000	0.17581	0.533000	0.62120	GAT		0.408	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		C	232615472	A	C	232615472	3	2	786	1	0	0	0	0	1	0	0	0	14336	98	4	5	3250	5	SIPA1L2	1	232615472	Missense_Mutation	SNP	A	TCGA-SX-A71V-01A-11D-A33Q-10	4094458	232615472	16635149	13	46653											
APLF	200558	hgsc.bcm.edu	37	2	68740321	68740322	+	Frame_Shift_Ins	INS	-	-	A			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr2:68740321_68740322insA	ENST00000303795.4	+	4	622_623	c.451_452insA	c.(451-453)gaafs	p.E151fs		NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	151					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of DNA ligation (GO:0051106)|regulation of isotype switching (GO:0045191)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|endodeoxyribonuclease activity (GO:0004520)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						AGGAAGCACAGAAATAGCCAAG	0.376																																																0																																										SO:0001589	frameshift_variant	200558			BC030711	CCDS1888.1	2p14	2014-02-20	2008-10-01	2008-10-01	ENSG00000169621	ENSG00000169621			28724	protein-coding gene	gene with protein product	"XRCC1-interacting protein 1", "zinc finger, CX5CX6HX5H motif containing 1"	611035	"chromosome 2 open reading frame 13"	C2orf13		18474613, 18077224, 17353262	Standard	NM_173545		Approved	MGC47799, Xip1, ZCCHH1	uc002sep.3	Q8IW19	OTTHUMG00000129566	ENST00000303795.4:c.454dupA	chr2.hg19:g.68740324_68740324dupA	ENSP00000307004:p.Glu151fs		A8K476|Q53P47|Q53PB9|Q53QU0	Frame_Shift_Ins	INS	ENST00000303795.4	hg19	CCDS1888.1																																																																																				0.376	APLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251759.1	NM_173545		A	68740322	-	A	68740321	7	5	786	1	0	1	1	0	0	0	0	0	776	943	33	0	465	0	APLF	2	68740321	Frame_Shift_Ins	INS	-	TCGA-SX-A71V-01A-11D-A33Q-10		68740321	174459052	14	46654											
C2orf78	388960	hgsc.bcm.edu	37	2	74043598	74043598	+	Missense_Mutation	SNP	T	T	G			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr2:74043598T>G	ENST00000409561.1	+	3	2369	c.2248T>G	c.(2248-2250)Tac>Gac	p.Y750D		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	750										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						TGCTGTGGCTTACCCTGCTCG	0.537																																																0													159	166	164					2																	74043598		2116	4225	6341	SO:0001583	missense	388960			AC092653, AC136006, AK125975	CCDS46338.1	2p13.2	2008-07-18			ENSG00000187833	ENSG00000187833			34349	protein-coding gene	gene with protein product							Standard	NM_001080474		Approved	FLJ43987, hCG1989538, COG5373	uc002sjr.1	A6NCI8	OTTHUMG00000152819	ENST00000409561.1:c.2248T>G	chr2.hg19:g.74043598T>G	ENSP00000387124:p.Tyr750Asp			Missense_Mutation	SNP	ENST00000409561.1	hg19	CCDS46338.1	.	.	.	.	.	.	.	.	.	.	T	1.402	-0.577786	0.03854	.	.	ENSG00000187833	ENST00000409561;ENST00000342345	T	0.45668	0.89	5.08	-10.2	0.00374	.	1.247370	0.05957	N	0.639954	T	0.16769	0.0403	N	0.16130	0.375	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.12041	-1.0563	10	0.32370	T	0.25	1.7364	1.4355	0.02342	0.4555:0.2176:0.1839:0.143	.	750	A6NCI8	CB078_HUMAN	D	750;720	ENSP00000387124:Y750D	ENSP00000340692:Y720D	Y	+	1	0	C2orf78	73897106	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-1.317000	0.02707	-2.190000	0.00757	-0.490000	0.04691	TAC		0.537	C2orf78-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000328083.1	NM_001080474		G	74043598	T	G	74043598	3	3	786	1	0	0	0	0	1	0	0	0	2197	1754	61	5	2258	5	C2orf78	2	74043598	Missense_Mutation	SNP	T	TCGA-SX-A71V-01A-11D-A33Q-10	5303277	74043598	169155775	15	46655											
ATF2	1386	hgsc.bcm.edu	37	2	175945471	175945471	+	Missense_Mutation	SNP	T	T	G			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr2:175945471T>G	ENST00000264110.2	-	13	1506	c.1208A>C	c.(1207-1209)aAt>aCt	p.N403T	ATF2_ENST00000409499.1_Missense_Mutation_p.N42T|ATF2_ENST00000426833.3_Missense_Mutation_p.N385T|ATF2_ENST00000538946.1_3'UTR|ATF2_ENST00000487334.2_3'UTR|ATF2_ENST00000409437.1_Missense_Mutation_p.N287T|ATF2_ENST00000345739.5_Missense_Mutation_p.N345T|ATF2_ENST00000392544.1_Missense_Mutation_p.N403T|ATF2_ENST00000409635.1_Missense_Mutation_p.N345T|ATF2_ENST00000392543.2_Missense_Mutation_p.N24T	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	403	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				adipose tissue development (GO:0060612)|cellular response to DNA damage stimulus (GO:0006974)|chromatin organization (GO:0006325)|fat cell differentiation (GO:0045444)|histone acetylation (GO:0016573)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|outflow tract morphogenesis (GO:0003151)|positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902110)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta2 production (GO:0032915)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to osmotic stress (GO:0006970)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	cAMP response element binding (GO:0035497)|cAMP response element binding protein binding (GO:0008140)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.125)		Pseudoephedrine(DB00852)	TGCCACTTCATTTCTCAGCAG	0.388																																					Pancreas(17;87 705 4534 15538 30988)											0													156	153	154					2																	175945471		2203	4300	6503	SO:0001583	missense	1386			X15875	CCDS2262.1, CCDS58737.1, CCDS58738.1, CCDS58739.1	2q32	2013-01-10			ENSG00000115966	ENSG00000115966		"basic leucine zipper proteins"	784	protein-coding gene	gene with protein product		123811	"cAMP responsive element binding protein 2"	CREB2		1833307, 1838349	Standard	NM_001880		Approved	TREB7, CRE-BP1, HB16	uc002ujl.4	P15336	OTTHUMG00000132424	ENST00000264110.2:c.1208A>C	chr2.hg19:g.175945471T>G	ENSP00000264110:p.Asn403Thr		A1L3Z2|A4D7U4|A4D7U5|A4D7V1|D3DPE9|G8JLM5|Q13000|Q3B7B7|Q4ZFU9|Q53RY2|Q8TAR1|Q96JT8	Missense_Mutation	SNP	ENST00000264110.2	hg19	CCDS2262.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.620506	0.87460	.	.	ENSG00000115966	ENST00000264110;ENST00000345739;ENST00000542046;ENST00000409437;ENST00000409635;ENST00000392544;ENST00000409499;ENST00000426833;ENST00000392543	T;T;T;T;T;T	0.56103	0.48;0.48;0.48;0.48;0.48;0.48	5.91	5.91	0.95273	Basic-leucine zipper (bZIP) transcription factor (2);bZIP transcription factor, bZIP-1 (1);	0.000000	0.85682	D	0.000000	T	0.60907	0.2305	L	0.28192	0.835	0.80722	D	1	D;P;D;B;B	0.76494	0.997;0.854;0.999;0.41;0.288	D;P;D;P;B	0.79108	0.992;0.505;0.972;0.475;0.103	T	0.60031	-0.7342	10	0.36615	T	0.2	-42.5065	16.3453	0.83126	0.0:0.0:0.0:1.0	.	385;380;42;345;403	A4D7U4;B3KY57;Q96JT8;Q3B7B7;P15336	.;.;.;.;ATF2_HUMAN	T	403;345;380;287;345;403;42;385;24	ENSP00000264110:N403T;ENSP00000340576:N345T;ENSP00000386326:N287T;ENSP00000387093:N345T;ENSP00000376327:N403T;ENSP00000407911:N385T	ENSP00000264110:N403T	N	-	2	0	ATF2	175653717	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.909000	0.69923	2.261000	0.74972	0.533000	0.62120	AAT		0.388	ATF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255562.1	NM_001880		G	175945471	T	G	175945471	3	3	786	1	0	0	0	0	1	0	0	0	1080	1493	52	5	317	5	ATF2	2	175945471	Missense_Mutation	SNP	T	TCGA-SX-A71V-01A-11D-A33Q-10	101901873	175945471	67253902	16	46656											
TTN	7273	hgsc.bcm.edu	37	2	179398278	179398278	+	Frame_Shift_Del	DEL	G	G	-			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr2:179398278delG	ENST00000591111.1	-	308	98365	c.98141delC	c.(98140-98142)cctfs	p.P32715fs	TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Del_p.P25483fs|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000589042.1_Frame_Shift_Del_p.P34356fs|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Del_p.P25416fs|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Del_p.P25291fs|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000342992.6_Frame_Shift_Del_p.P31788fs|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591867.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32715					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)			ATCTGTTGGAGGTGGGTGTAG	0.448																																																0													110	97	101					2																	179398278		1962	4174	6136	SO:0001589	frameshift_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.98141delC	chr2.hg19:g.179398278delG	ENSP00000465570:p.Pro32715fs		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	hg19																																																																																					0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		-	179398278	G	-	179398278	7	5	786	1	0	1	0	1	0	0	0	0	16740	1000	35	0	4935	0	TTN	2	179398278	Frame_Shift_Del	DEL	G	TCGA-SX-A71V-01A-11D-A33Q-10	3452807	179398278	63801095	17	46657											
TTN	7273	hgsc.bcm.edu	37	2	179575930	179575930	+	Missense_Mutation	SNP	G	G	C			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr2:179575930G>C	ENST00000591111.1	-	95	27306	c.27082C>G	c.(27082-27084)Cca>Gca	p.P9028A	TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.P9345A|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P8101A|TTN-AS1_ENST00000431752.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13166	Ig-like 73.				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)			TGTACATTTGGGCTGTCTTTC	0.428																																																0													212	209	210					2																	179575930		1869	4109	5978	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.27082C>G	chr2.hg19:g.179575930G>C	ENSP00000465570:p.Pro9028Ala		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	hg19		.	.	.	.	.	.	.	.	.	.	G	8.880	0.951423	0.18431	.	.	ENSG00000155657	ENST00000342992	T	0.41400	1.0	5.76	0.755	0.18415	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.21881	0.0527	N	0.16307	0.4	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26155	-1.0111	9	0.87932	D	0	.	0.6363	0.00802	0.308:0.1208:0.3244:0.2469	.	9028	Q8WZ42	TITIN_HUMAN	A	8101	ENSP00000343764:P8101A	ENSP00000343764:P8101A	P	-	1	0	TTN	179284175	0.913000	0.31002	0.693000	0.30195	0.889000	0.51656	0.482000	0.22276	-0.064000	0.13043	-0.169000	0.13324	CCA		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		C	179575930	G	C	179575930	3	2	786	1	0	0	0	0	1	0	0	0	16740	1232	43	4	76560	4	TTN	2	179575930	Missense_Mutation	SNP	G	TCGA-SX-A71V-01A-11D-A33Q-10	177652	179575930	63623443	18	46658											
SLC40A1	30061	hgsc.bcm.edu	37	2	190428539	190428539	+	Silent	SNP	T	T	A			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr2:190428539T>A	ENST00000261024.2	-	7	1599	c.1173A>T	c.(1171-1173)gtA>gtT	p.V391V		NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	391					anatomical structure morphogenesis (GO:0009653)|cellular iron ion homeostasis (GO:0006879)|endothelium development (GO:0003158)|iron ion transmembrane transport (GO:0034755)|lymphocyte homeostasis (GO:0002260)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of apoptotic process (GO:0043066)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|spleen trabecula formation (GO:0060345)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	iron ion transmembrane transporter activity (GO:0005381)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			CAGGCATGAATACAGAGATCA	0.453																																																0													84	78	80					2																	190428539		2203	4300	6503	SO:0001819	synonymous_variant	30061			AF215636	CCDS2299.1	2q32	2014-09-17	2003-06-04	2003-06-05	ENSG00000138449	ENSG00000138449		"Solute carriers"	10909	protein-coding gene	gene with protein product	"ferroportin 1"	604653	"solute carrier family 11 (proton-coupled divalent metal ion transporters), member 3"	SLC11A3		10828623	Standard	NM_014585		Approved	MTP1, IREG1, FPN1, HFE4	uc002uqp.4	Q9NP59	OTTHUMG00000132662	ENST00000261024.2:c.1173A>T	chr2.hg19:g.190428539T>A			Q6FI62|Q7Z4F8|Q8IVB2|Q9NRL0	Silent	SNP	ENST00000261024.2	hg19	CCDS2299.1																																																																																				0.453	SLC40A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255916.2			A	190428539	T	A	190428539	2	1	786	1	0	0	0	0	0	0	0	1	14634	1393	49	5		5	SLC40A1	2	190428539	Silent	SNP	T	TCGA-SX-A71V-01A-11D-A33Q-10	10852609	190428539	52770834	19	46659											
FGD5	152273	hgsc.bcm.edu	37	3	14861143	14861143	+	Missense_Mutation	SNP	G	G	A			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr3:14861143G>A	ENST00000285046.5	+	1	675	c.565G>A	c.(565-567)Gtc>Atc	p.V189I	FGD5_ENST00000543601.1_5'UTR	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	189	Glu-rich.				actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						TGGAGAGGGGGTCTTCCAGAG	0.637																																																0													32	41	38					3																	14861143		692	1591	2283	SO:0001583	missense	152273			AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.565G>A	chr3.hg19:g.14861143G>A	ENSP00000285046:p.Val189Ile		B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	ENST00000285046.5	hg19	CCDS46767.1	.	.	.	.	.	.	.	.	.	.	G	9.096	1.003024	0.19121	.	.	ENSG00000154783	ENST00000285046	T	0.75260	-0.92	5.21	-1.04	0.10068	.	2.198090	0.02044	N	0.049557	T	0.53061	0.1773	N	0.12182	0.205	0.09310	N	0.999997	B	0.02656	0.0	B	0.04013	0.001	T	0.29822	-0.9999	10	0.33940	T	0.23	-4.0	1.0228	0.01521	0.3558:0.155:0.3405:0.1487	.	189	Q6ZNL6	FGD5_HUMAN	I	189	ENSP00000285046:V189I	ENSP00000285046:V189I	V	+	1	0	FGD5	14836147	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.344000	0.19962	-0.288000	0.09051	0.591000	0.81541	GTC		0.637	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536		A	14861143	G	A	14861143	3	1	786	1	0	0	0	0	1	0	0	0	5838	1261	44	2	567	2	FGD5	3	14861143	Missense_Mutation	SNP	G	TCGA-SX-A71V-01A-11D-A33Q-10		14861143	183161287	20	46660											
TRANK1	9881	hgsc.bcm.edu	37	3	36898563	36898563	+	Missense_Mutation	SNP	C	C	G			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr3:36898563C>G	ENST00000429976.2	-	12	2765	c.2518G>C	c.(2518-2520)Gga>Cga	p.G840R	TRANK1_ENST00000428977.2_Missense_Mutation_p.G290R|TRANK1_ENST00000301807.6_Missense_Mutation_p.G290R	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	840							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						TGGATGCTTCCTTTCAGGTGC	0.537																																																0													60	59	59					3																	36898563		1986	4166	6152	SO:0001583	missense	9881			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.2518G>C	chr3.hg19:g.36898563C>G	ENSP00000416168:p.Gly840Arg		Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	hg19	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	C	18.26	3.584939	0.65992	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.30182	1.54;1.95;1.54	5.51	5.51	0.81932	.	0.099482	0.44688	D	0.000427	T	0.38348	0.1037	N	0.24115	0.695	0.39623	D	0.970059	D	0.71674	0.998	D	0.66716	0.946	T	0.07673	-1.0760	10	0.25106	T	0.35	.	14.6176	0.68560	0.1457:0.8542:0.0:0.0	.	840	O15050	TRNK1_HUMAN	R	290;840;290	ENSP00000416826:G290R;ENSP00000416168:G840R;ENSP00000301807:G290R	ENSP00000301807:G290R	G	-	1	0	TRANK1	36873567	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.438000	0.44837	2.768000	0.95171	0.561000	0.74099	GGA		0.537	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		G	36898563	C	G	36898563	3	3	786	1	0	0	0	0	1	0	0	0	16459	690	24	4	6307	4	TRANK1	3	36898563	Missense_Mutation	SNP	C	TCGA-SX-A71V-01A-11D-A33Q-10	22037420	36898563	161123867	21	46661											
DNAH1	25981	hgsc.bcm.edu	37	3	52422336	52422336	+	Missense_Mutation	SNP	G	G	C			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr3:52422336G>C	ENST00000420323.2	+	57	9418	c.9157G>C	c.(9157-9159)Gtg>Ctg	p.V3053L		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3053	Stalk. {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)		GGCCAAGGCCGTGGAGCCCAA	0.652																																																0													39	42	41					3																	52422336		2070	4193	6263	SO:0001583	missense	25981			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.9157G>C	chr3.hg19:g.52422336G>C	ENSP00000401514:p.Val3053Leu		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	hg19	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.163685	0.78226	.	.	ENSG00000114841	ENST00000420323	T	0.79454	-1.27	4.29	4.29	0.51040	.	0.000000	0.56097	D	0.000038	D	0.90577	0.7046	M	0.93808	3.46	0.53688	D	0.999974	D	0.71674	0.998	D	0.68943	0.961	D	0.93448	0.6799	10	0.87932	D	0	.	16.9513	0.86246	0.0:0.0:1.0:0.0	.	3053	C9JXH6	.	L	3053	ENSP00000401514:V3053L	ENSP00000401514:V3053L	V	+	1	0	DNAH1	52397376	1.000000	0.71417	0.996000	0.52242	0.906000	0.53458	6.903000	0.75703	2.229000	0.72834	0.561000	0.74099	GTG		0.652	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		C	52422336	G	C	52422336	3	2	786	1	0	0	0	0	1	0	0	0	4599	1145	40	4	9379	4	DNAH1	3	52422336	Missense_Mutation	SNP	G	TCGA-SX-A71V-01A-11D-A33Q-10	15523773	52422336	145600094	22	46662											
OSBPL11	114885	hgsc.bcm.edu	37	3	125266348	125266348	+	Silent	SNP	T	T	C			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr3:125266348T>C	ENST00000296220.5	-	10	2032	c.1743A>G	c.(1741-1743)gtA>gtG	p.V581V		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	581					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|positive regulation of sequestering of triglyceride (GO:0010890)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						CACCCAGTTCTACCCAAGGAA	0.438																																																0													137	125	129					3																	125266348		2203	4300	6503	SO:0001819	synonymous_variant	114885			AF392454	CCDS3033.1	3q21	2013-01-10			ENSG00000144909	ENSG00000144909		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16397	protein-coding gene	gene with protein product		606739					Standard	NM_022776		Approved	ORP-11, ORP11, FLJ13012, FLJ13164	uc003eic.3	Q9BXB4	OTTHUMG00000159571	ENST00000296220.5:c.1743A>G	chr3.hg19:g.125266348T>C			A8K9I7	Silent	SNP	ENST00000296220.5	hg19	CCDS3033.1																																																																																				0.438	OSBPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356295.1	NM_022776		C	125266348	T	C	125266348	2	2	786	1	0	0	0	0	0	0	0	1	11278	1509	53	3		3	OSBPL11	3	125266348	Silent	SNP	T	TCGA-SX-A71V-01A-11D-A33Q-10	72844012	125266348	72756082	23	46663											
TRIM42	287015	hgsc.bcm.edu	37	3	140397260	140397260	+	Silent	SNP	C	C	T			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr3:140397260C>T	ENST00000286349.3	+	1	380	c.189C>T	c.(187-189)tgC>tgT	p.C63C		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	63	Cys-rich.					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						GCCCCAACTGCCATTGGTGTT	0.557																																																0													134	110	118					3																	140397260		2203	4300	6503	SO:0001819	synonymous_variant	287015			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.189C>T	chr3.hg19:g.140397260C>T			A1L4B4|Q8N832|Q8NDL3	Silent	SNP	ENST00000286349.3	hg19	CCDS3113.1																																																																																				0.557	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616		T	140397260	C	T	140397260	2	4	786	1	0	0	0	0	0	0	0	1	16522	747	26	2		2	TRIM42	3	140397260	Silent	SNP	C	TCGA-SX-A71V-01A-11D-A33Q-10	15130912	140397260	57625170	24	46664											
PLD1	5337	hgsc.bcm.edu	37	3	171362716	171362716	+	Missense_Mutation	SNP	T	T	C			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr3:171362716T>C	ENST00000351298.4	-	22	2653	c.2527A>G	c.(2527-2529)Atg>Gtg	p.M843V	PLD1_ENST00000340989.4_Missense_Mutation_p.M843V|PLD1_ENST00000356327.5_Missense_Mutation_p.M805V|PLD1_ENST00000342215.6_3'UTR	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	843	Catalytic.				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)	TTGAAGTGCATGATTGCCTGT	0.463																																					NSCLC(149;2174 3517 34058)											0													124	113	117					3																	171362716		2203	4300	6503	SO:0001583	missense	5337			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.2527A>G	chr3.hg19:g.171362716T>C	ENSP00000342793:p.Met843Val			Missense_Mutation	SNP	ENST00000351298.4	hg19	CCDS3216.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.279208	0.80692	.	.	ENSG00000075651	ENST00000356327;ENST00000351298;ENST00000340989	T;T;T	0.34859	1.34;1.34;1.34	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.56202	0.1969	M	0.64567	1.98	0.80722	D	1	P;P;P	0.50819	0.855;0.937;0.939	P;P;D	0.64877	0.644;0.864;0.93	T	0.55995	-0.8052	10	0.51188	T	0.08	-36.3673	15.0031	0.71489	0.0:0.0:0.0:1.0	.	843;828;843	Q13393-4;Q59EA4;Q13393	.;.;PLD1_HUMAN	V	805;843;843	ENSP00000348681:M805V;ENSP00000342793:M843V;ENSP00000340326:M843V	ENSP00000340326:M843V	M	-	1	0	PLD1	172845410	1.000000	0.71417	0.992000	0.48379	0.983000	0.72400	7.609000	0.82925	2.194000	0.70268	0.533000	0.62120	ATG		0.463	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662		C	171362716	T	C	171362716	3	2	786	1	0	0	0	0	1	0	0	0	12047	1464	51	3	721	3	PLD1	3	171362716	Missense_Mutation	SNP	T	TCGA-SX-A71V-01A-11D-A33Q-10	30965456	171362716	26659714	25	46665											
MUC20	200958	hgsc.bcm.edu	37	3	195453023	195453023	+	Missense_Mutation	SNP	A	A	G			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr3:195453023A>G	ENST00000447234.2	+	2	1675	c.1549A>G	c.(1549-1551)Acc>Gcc	p.T517A	MUC20_ENST00000436408.1_Missense_Mutation_p.T517A|MUC20_ENST00000320736.6_Missense_Mutation_p.T346A|MUC20_ENST00000445522.2_Missense_Mutation_p.T482A	NM_001282506.1	NP_001269435.1	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	517	Involved in oligomerization.		Missing. {ECO:0000269|PubMed:14702039}.		activation of MAPK activity (GO:0000187)|cellular protein metabolic process (GO:0044267)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein homooligomerization (GO:0051260)	basal plasma membrane (GO:0009925)|cell projection (GO:0042995)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		CGGGGCCACGACCCTCAGTGG	0.582																																																0													56	53	54					3																	195453023		2122	4218	6340	SO:0001583	missense	200958			AB037780	CCDS63877.1	3q29	2008-08-07	2006-03-14		ENSG00000176945	ENSG00000176945		"Mucins"	23282	protein-coding gene	gene with protein product		610360				14565953	Standard	NM_001282506		Approved	FLJ14408, KIAA1359	uc010hzo.3	Q8N307	OTTHUMG00000155823	ENST00000447234.2:c.1549A>G	chr3.hg19:g.195453023A>G	ENSP00000414350:p.Thr517Ala		Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8	Missense_Mutation	SNP	ENST00000447234.2	hg19		.	.	.	.	.	.	.	.	.	.	A	12.67	2.008608	0.35415	.	.	ENSG00000176945	ENST00000447234;ENST00000320736;ENST00000436408;ENST00000445522	T;T;T;T	0.13778	2.98;2.98;3.15;2.56	3.97	-3.15	0.05233	.	0.867446	0.09841	N	0.748862	T	0.07954	0.0199	L	0.34521	1.04	0.09310	N	1	P	0.35507	0.506	B	0.31812	0.136	T	0.23119	-1.0197	10	0.48119	T	0.1	0.2299	4.3567	0.11181	0.4003:0.0:0.4259:0.1738	.	346	E9PH32	.	A	517;346;517;482	ENSP00000414350:T517A;ENSP00000325431:T346A;ENSP00000396774:T517A;ENSP00000405629:T482A	ENSP00000325431:T346A	T	+	1	0	MUC20	196938694	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-1.788000	0.01763	-0.716000	0.04962	0.421000	0.28195	ACC		0.582	MUC20-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000341835.1	NM_152673		G	195453023	A	G	195453023	3	3	786	1	0	0	0	0	1	0	0	0	9978	275	10	3	1046	3	MUC20	3	195453023	Missense_Mutation	SNP	A	TCGA-SX-A71V-01A-11D-A33Q-10	24090307	195453023	2569407	26	46666											
TADA2B	93624	hgsc.bcm.edu	37	4	7056602	7056602	+	Silent	SNP	T	T	C			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr4:7056602T>C	ENST00000310074.7	+	2	1273	c.1084T>C	c.(1084-1086)Tta>Cta	p.L362L	TADA2B_ENST00000512388.1_Silent_p.L287L|TADA2B_ENST00000515646.1_Silent_p.L270L	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2B	362					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	SAGA-type complex (GO:0070461)|STAGA complex (GO:0030914)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						CTGCAGCTCTTTAAACTTGAG	0.537																																																0													70	74	73					4																	7056602		1944	4140	6084	SO:0001819	synonymous_variant	93624			AK026299	CCDS47007.1	4p16.1	2009-10-02			ENSG00000173011	ENSG00000173011			30781	protein-coding gene	gene with protein product		608790				12972612, 18936164	Standard	NM_152293		Approved	MGC21874	uc003gjw.4	Q86TJ2	OTTHUMG00000159983	ENST00000310074.7:c.1084T>C	chr4.hg19:g.7056602T>C			A0AUJ8|A4QMR7|B3KSN0|B3KU86|Q6MZG9	Silent	SNP	ENST00000310074.7	hg19	CCDS47007.1																																																																																				0.537	TADA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358687.2	NM_152293		C	7056602	T	C	7056602	2	2	786	1	0	0	0	0	0	0	0	1	15516	1838	64	3		3	TADA2B	4	7056602	Silent	SNP	T	TCGA-SX-A71V-01A-11D-A33Q-10		7056602	184097674	27	46667											
MOBKL1A	92597	hgsc.bcm.edu	37	4	71768265	71768265	+	Missense_Mutation	SNP	G	G	T			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr4:71768265G>T	ENST00000309395.2	+	1	213	c.12G>T	c.(10-12)ttG>ttT	p.L4F	MOB1B_ENST00000396051.2_5'UTR|MOB1B_ENST00000511449.1_3'UTR	NM_001244766.1|NM_173468.3	NP_001231695.1|NP_775739.1	Q7L9L4	MOB1B_HUMAN	MOB kinase activator 1B	4					hippo signaling (GO:0035329)|positive regulation of phosphorylation (GO:0042327)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	kinase activator activity (GO:0019209)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)										TGAGCTTCTTGTTGTGAGTAG	0.726																																																0													9	10	10					4																	71768265		2154	4235	6389	SO:0001583	missense	92597			BC038112	CCDS34002.1, CCDS58903.1	4q13.3	2011-09-28	2011-09-28	2011-09-27	ENSG00000173542	ENSG00000173542		"MOB kinase activators"	29801	protein-coding gene	gene with protein product	"Mob4A protein"	609282	"MOB1, Mps One Binder kinase activator-like 1A (yeast)", "MOB1 Mps One Binder homolog B (yeast)"	MOBKL1A		15067004	Standard	NM_173468		Approved	MOB4A	uc003hfw.3	Q7L9L4	OTTHUMG00000160844	ENST00000309395.2:c.12G>T	chr4.hg19:g.71768265G>T	ENSP00000310189:p.Leu4Phe		B2R8U6|B4DRY3|Q8IY23	Missense_Mutation	SNP	ENST00000309395.2	hg19	CCDS34002.1	.	.	.	.	.	.	.	.	.	.	G	9.947	1.219208	0.22373	.	.	ENSG00000173542	ENST00000309395	.	.	.	3.97	2.23	0.28157	.	0.780131	0.11880	N	0.520563	T	0.16642	0.0400	N	0.01228	-0.945	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.12837	0.008;0.001	T	0.10451	-1.0629	9	0.11182	T	0.66	.	6.3657	0.21453	0.2295:0.0:0.7705:0.0	.	4;4	Q7L9L4;B3KSH6	MOB1B_HUMAN;.	F	4	.	ENSP00000310189:L4F	L	+	3	2	MOBKL1A	71987129	1.000000	0.71417	1.000000	0.80357	0.329000	0.28539	0.824000	0.27379	0.450000	0.26774	0.491000	0.48974	TTG		0.726	MOB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362634.1	NM_173468		T	71768265	G	T	71768265	3	4	786	1	0	0	0	0	1	0	0	0	9684	1368	48	4	14	4	MOBKL1A	4	71768265	Missense_Mutation	SNP	G	TCGA-SX-A71V-01A-11D-A33Q-10	64711663	71768265	119386011	28	46668											
PRDM5	11107	hgsc.bcm.edu	37	4	121702315	121702315	+	Missense_Mutation	SNP	G	G	A			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr4:121702315G>A	ENST00000264808.3	-	12	1666	c.1426C>T	c.(1426-1428)Ctt>Ttt	p.L476F	PRDM5_ENST00000428209.2_Missense_Mutation_p.L445F|PRDM5_ENST00000515109.1_Missense_Mutation_p.L445F	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	476					histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|mitotic cell cycle (GO:0000278)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGACTTCTAAGCACTGAAGGT	0.353																																																0													157	137	143					4																	121702315		2203	4300	6503	SO:0001583	missense	11107			AF272897	CCDS3716.1, CCDS75187.1, CCDS75188.1	4q25-q26	2013-01-08			ENSG00000138738	ENSG00000138738		"Zinc fingers, C2H2-type"	9349	protein-coding gene	gene with protein product		614161					Standard	XM_005262706		Approved	PFM2	uc003idn.3	Q9NQX1	OTTHUMG00000132970	ENST00000264808.3:c.1426C>T	chr4.hg19:g.121702315G>A	ENSP00000264808:p.Leu476Phe		Q0VAI9|Q0VAJ0|Q6NXQ7	Missense_Mutation	SNP	ENST00000264808.3	hg19	CCDS3716.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.762993	0.89932	.	.	ENSG00000138738	ENST00000264808;ENST00000515109;ENST00000428209	T;T;T	0.52057	0.68;0.68;0.68	5.9	5.9	0.94986	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	0.71384	0.3333	M	0.75264	2.295	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.997	T	0.71991	-0.4425	10	0.66056	D	0.02	-23.0771	20.2704	0.98474	0.0:0.0:1.0:0.0	.	445;445;476	Q0VAI9;Q9NQX1-2;Q9NQX1	.;.;PRDM5_HUMAN	F	476;445;445	ENSP00000264808:L476F;ENSP00000422309:L445F;ENSP00000404832:L445F	ENSP00000264808:L476F	L	-	1	0	PRDM5	121921765	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	9.675000	0.98638	2.793000	0.96121	0.591000	0.81541	CTT		0.353	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256528.2			A	121702315	G	A	121702315	3	1	786	1	0	0	0	0	1	0	0	0	12465	971	34	2	486	2	PRDM5	4	121702315	Missense_Mutation	SNP	G	TCGA-SX-A71V-01A-11D-A33Q-10	49934050	121702315	69451961	29	46669											
ZNF622	90441	hgsc.bcm.edu	37	5	16463272	16463272	+	Missense_Mutation	SNP	T	T	C			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr5:16463272T>C	ENST00000308683.2	-	3	1120	c.994A>G	c.(994-996)Aag>Gag	p.K332E		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	332					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						GTGAAGAGCTTACAGTGGCTT	0.413																																																0													185	186	186					5																	16463272		2203	4300	6503	SO:0001583	missense	90441			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.994A>G	chr5.hg19:g.16463272T>C	ENSP00000310042:p.Lys332Glu			Missense_Mutation	SNP	ENST00000308683.2	hg19	CCDS3886.1	.	.	.	.	.	.	.	.	.	.	T	32	5.118738	0.94385	.	.	ENSG00000173545	ENST00000308683	T	0.46451	0.87	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.73179	0.3554	M	0.92691	3.335	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.80386	-0.1404	10	0.72032	D	0.01	-5.2815	16.2879	0.82732	0.0:0.0:0.0:1.0	.	332	Q969S3	ZN622_HUMAN	E	332	ENSP00000310042:K332E	ENSP00000310042:K332E	K	-	1	0	ZNF622	16516272	1.000000	0.71417	0.994000	0.49952	0.992000	0.81027	7.988000	0.88194	2.242000	0.73789	0.533000	0.62120	AAG		0.413	ZNF622-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207105.1	NM_033414		C	16463272	T	C	16463272	3	2	786	1	0	0	0	0	1	0	0	0	18051	1763	61	3	455	3	ZNF622	5	16463272	Missense_Mutation	SNP	T	TCGA-SX-A71V-01A-11D-A33Q-10		16463272	164451988	30	46670											
MAN2A1	4124	hgsc.bcm.edu	37	5	109155930	109155930	+	Missense_Mutation	SNP	A	A	C			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr5:109155930A>C	ENST00000261483.4	+	15	3390	c.2338A>C	c.(2338-2340)Act>Cct	p.T780P		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	780					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	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)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		GCAAATGATGACTAAAGAAGA	0.313																																																0													57	56	56					5																	109155930		2202	4300	6502	SO:0001583	missense	4124				CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"golgi integral membrane protein 7"	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.2338A>C	chr5.hg19:g.109155930A>C	ENSP00000261483:p.Thr780Pro		Q16767	Missense_Mutation	SNP	ENST00000261483.4	hg19	CCDS34209.1	.	.	.	.	.	.	.	.	.	.	A	10.27	1.303856	0.23736	.	.	ENSG00000112893	ENST00000261483	T	0.78707	-1.2	5.97	3.56	0.40772	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.633028	0.16350	N	0.218261	T	0.72260	0.3438	M	0.61703	1.905	0.09310	N	1	B	0.11235	0.004	B	0.18263	0.021	T	0.58999	-0.7536	10	0.30078	T	0.28	-7.0965	8.6679	0.34132	0.8031:0.1298:0.067:0.0	.	780	Q16706	MA2A1_HUMAN	P	780	ENSP00000261483:T780P	ENSP00000261483:T780P	T	+	1	0	MAN2A1	109183829	0.010000	0.17322	0.110000	0.21437	0.981000	0.71138	2.300000	0.43620	0.495000	0.27882	-0.256000	0.11100	ACT		0.313	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1			C	109155930	A	C	109155930	3	2	786	1	0	0	0	0	1	0	0	0	9216	275	10	5	2396	5	MAN2A1	5	109155930	Missense_Mutation	SNP	A	TCGA-SX-A71V-01A-11D-A33Q-10	92692658	109155930	71759330	31	46671											
SNCAIP	9627	hgsc.bcm.edu	37	5	121758736	121758736	+	Missense_Mutation	SNP	G	G	A			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr5:121758736G>A	ENST00000261368.8	+	4	566	c.304G>A	c.(304-306)Gtg>Atg	p.V102M	SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000503116.2_Missense_Mutation_p.V149M|SNCAIP_ENST00000379533.2_Missense_Mutation_p.V149M|SNCAIP_ENST00000504884.2_Intron|SNCAIP_ENST00000261367.7_Missense_Mutation_p.V149M|SNCAIP_ENST00000379536.2_Missense_Mutation_p.V102M|SNCAIP_ENST00000414317.2_Intron	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	102					cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		GAACCAGAAAGTGGTTGAGTA	0.552																																																0													55	60	58					5																	121758736		2203	4300	6503	SO:0001583	missense	9627			AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"Ankyrin repeat domain containing"	11139	protein-coding gene	gene with protein product	"synphilin"	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.304G>A	chr5.hg19:g.121758736G>A	ENSP00000261368:p.Val102Met		D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Missense_Mutation	SNP	ENST00000261368.8	hg19	CCDS4131.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.280488	0.59758	.	.	ENSG00000064692	ENST00000514467;ENST00000506272;ENST00000509154;ENST00000261368;ENST00000379533;ENST00000379536;ENST00000261367;ENST00000503116	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	5.53	2.75	0.32379	.	0.885835	0.09030	U	0.858812	T	0.23094	0.0558	N	0.24115	0.695	0.58432	D	0.999994	B;B;B;B	0.32526	0.257;0.374;0.374;0.257	B;B;B;B	0.33521	0.049;0.165;0.165;0.049	T	0.02320	-1.1177	10	0.66056	D	0.02	.	8.6976	0.34305	0.1371:0.1257:0.7373:0.0	.	102;149;149;102	D6R9G8;Q9Y6H5-6;Q9Y6H5-3;Q9Y6H5	.;.;.;SNCAP_HUMAN	M	102;149;102;102;149;102;149;149	ENSP00000427090:V102M;ENSP00000426551:V149M;ENSP00000422106:V102M;ENSP00000261368:V102M;ENSP00000368848:V149M;ENSP00000368851:V102M;ENSP00000261367:V149M;ENSP00000423199:V149M	ENSP00000261367:V149M	V	+	1	0	SNCAIP	121786635	0.996000	0.38824	0.051000	0.19133	0.975000	0.68041	3.922000	0.56462	0.294000	0.22547	0.561000	0.74099	GTG		0.552	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250888.1			A	121758736	G	A	121758736	3	1	786	1	0	0	0	0	1	0	0	0	14847	1029	36	2	314	2	SNCAIP	5	121758736	Missense_Mutation	SNP	G	TCGA-SX-A71V-01A-11D-A33Q-10	12602806	121758736	59156524	32	46672											
SIL1	64374	hgsc.bcm.edu	37	5	138378379	138378379	+	Missense_Mutation	SNP	G	G	T	rs55660322		TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr5:138378379G>T	ENST00000394817.2	-	5	522	c.383C>A	c.(382-384)tCt>tAt	p.S128Y	CTB-46B19.2_ENST00000512875.2_RNA|SIL1_ENST00000265195.5_Missense_Mutation_p.S128Y|SIL1_ENST00000509534.1_Missense_Mutation_p.S135Y	NM_022464.4	NP_071909.1	Q9H173	SIL1_HUMAN	SIL1 nucleotide exchange factor	128	Interaction with HSPA5 and localization to the endoplasmic reticulum. {ECO:0000250}.				intracellular protein transport (GO:0006886)|protein folding (GO:0006457)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GAGATCCTGAGATGTGTAGGT	0.463									Marinesco-Sjgren syndrome																																							0													221	200	207					5																	138378379		2203	4300	6503	SO:0001583	missense	64374	Familial Cancer Database	Marinesco-Sjogren syndrome	AK075177	CCDS4209.1	5q31	2013-08-21	2013-08-21		ENSG00000120725	ENSG00000120725			24624	protein-coding gene	gene with protein product		608005	"Marinesco-Sjogren syndrome", "SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae)"	MSS		11101517, 12356756, 16282977	Standard	XM_006714671		Approved	BAP, ULG5	uc003ldp.3	Q9H173	OTTHUMG00000129226	ENST00000394817.2:c.383C>A	chr5.hg19:g.138378379G>T	ENSP00000378294:p.Ser128Tyr		D3DQC2|Q8N2L3	Missense_Mutation	SNP	ENST00000394817.2	hg19	CCDS4209.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.943178	0.73672	.	.	ENSG00000120725	ENST00000394817;ENST00000265195;ENST00000537511;ENST00000509534;ENST00000508639	T;T;T;T	0.72051	-0.61;-0.61;-0.62;-0.22	4.97	4.97	0.65823	.	0.265230	0.39759	N	0.001272	T	0.76292	0.3967	L	0.56769	1.78	0.42774	D	0.993843	D;D	0.62365	0.991;0.991	P;P	0.54544	0.755;0.676	T	0.78695	-0.2104	10	0.66056	D	0.02	-14.7438	13.924	0.63950	0.0:0.0:1.0:0.0	.	135;128	D6REA1;Q9H173	.;SIL1_HUMAN	Y	128;128;107;135;128	ENSP00000378294:S128Y;ENSP00000265195:S128Y;ENSP00000426858:S135Y;ENSP00000427371:S128Y	ENSP00000265195:S128Y	S	-	2	0	SIL1	138406278	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	5.244000	0.65400	2.746000	0.94184	0.555000	0.69702	TCT		0.463	SIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251319.1	NM_022464		T	138378379	G	T	138378379	3	4	786	1	0	0	0	0	1	0	0	0	14327	942	33	4	1026	4	SIL1	5	138378379	Missense_Mutation	SNP	G	TCGA-SX-A71V-01A-11D-A33Q-10	16619643	138378379	42536881	33	46673											
PCDHGA2	56113	hgsc.bcm.edu	37	5	140720354	140720354	+	Missense_Mutation	SNP	T	T	C			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr5:140720354T>C	ENST00000394576.2	+	1	1816	c.1816T>C	c.(1816-1818)Tac>Cac	p.Y606H	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	606	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(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)			CTGGCTGTCTTACCACCTGCT	0.692																																																0													60	70	66					5																	140720354		2203	4299	6502	SO:0001583	missense	56113			AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"Cadherins / Protocadherins : Clustered"	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.1816T>C	chr5.hg19:g.140720354T>C	ENSP00000378077:p.Tyr606His		Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	hg19	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	15.58	2.874786	0.51695	.	.	ENSG00000081853	ENST00000394576	T	0.62941	-0.01	5.14	5.14	0.70334	Cadherin (4);Cadherin-like (1);	0.000000	0.37669	U	0.001992	D	0.88581	0.6475	H	0.99609	4.655	0.33366	D	0.573012	D;D	0.89917	1.0;1.0	D;D	0.87578	0.994;0.998	D	0.95385	0.8476	10	0.87932	D	0	.	14.99	0.71381	0.0:0.0:0.0:1.0	.	606;606	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	H	606	ENSP00000378077:Y606H	ENSP00000378077:Y606H	Y	+	1	0	PCDHGA2	140700538	1.000000	0.71417	1.000000	0.80357	0.038000	0.13279	7.952000	0.87827	2.093000	0.63338	0.397000	0.26171	TAC		0.692	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		C	140720354	T	C	140720354	3	2	786	1	0	0	0	0	1	0	0	0	11556	1754	61	3	1818	3	PCDHGA2	5	140720354	Missense_Mutation	SNP	T	TCGA-SX-A71V-01A-11D-A33Q-10	2341975	140720354	40194906	34	46674											
POU4F3	5459	hgsc.bcm.edu	37	5	145719332	145719332	+	Silent	SNP	C	C	T			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr5:145719332C>T	ENST00000230732.4	+	2	431	c.342C>T	c.(340-342)ggC>ggT	p.G114G	CTC-359M8.1_ENST00000515598.1_RNA	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	114					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)			TGCACCAGGGCCTCGAAGGCG	0.662																																																0													113	99	104					5																	145719332		2203	4299	6502	SO:0001819	synonymous_variant	5459			U10060	CCDS4281.1	5q32	2011-06-20	2007-07-13		ENSG00000091010	ENSG00000091010		"Homeoboxes / POU class"	9220	protein-coding gene	gene with protein product		602460	"POU domain class 4, transcription factor 3"	DFNA15		9506947	Standard	NM_002700		Approved	BRN3C	uc003loa.2	Q15319	OTTHUMG00000129684	ENST00000230732.4:c.342C>T	chr5.hg19:g.145719332C>T			O60557|Q2M3F8	Silent	SNP	ENST00000230732.4	hg19	CCDS4281.1																																																																																				0.662	POU4F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251887.2	NM_002700		T	145719332	C	T	145719332	2	4	786	1	0	0	0	0	0	0	0	1	12282	726	26	2		2	POU4F3	5	145719332	Silent	SNP	C	TCGA-SX-A71V-01A-11D-A33Q-10	4998978	145719332	35195928	35	46675											
CCDC99	54908	hgsc.bcm.edu	37	5	169018070	169018071	+	Frame_Shift_Ins	INS	-	-	G	rs535922596		TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr5:169018070_169018071insG	ENST00000265295.4	+	3	457_458	c.178_179insG	c.(178-180)tatfs	p.Y60fs	SPDL1_ENST00000510751.1_3'UTR	NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1																		ACAAGAAAAATATACCCTTCAA	0.312																																																0																																										SO:0001589	frameshift_variant	54908			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	Exception_encountered	chr5.hg19:g.169018070_169018071insG	ENSP00000265295:p.Tyr60fs			Frame_Shift_Ins	INS	ENST00000265295.4	hg19	CCDS4370.1																																																																																				0.312	SPDL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252829.2	NM_017785		G	169018071	-	G	169018070	7	5	786	1	0	1	1	0	0	0	0	0	2878	1406	49	0	184	0	CCDC99	5	169018070	Frame_Shift_Ins	INS	-	TCGA-SX-A71V-01A-11D-A33Q-10	23298738	169018070	11897190	36	46676											
DUSP1	1843	hgsc.bcm.edu	37	5	172196606	172196606	+	Silent	SNP	G	G	T			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr5:172196606G>T	ENST00000239223.3	-	3	947	c.705C>A	c.(703-705)tcC>tcA	p.S235S	RP11-779O18.3_ENST00000523005.1_RNA	NM_004417.3	NP_004408.1	P28562	DUS1_HUMAN	dual specificity phosphatase 1	235	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)		CGTTGAACCAGGAGCTGATGT	0.493																																																0													217	196	203					5																	172196606		2203	4300	6503	SO:0001819	synonymous_variant	1843			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.705C>A	chr5.hg19:g.172196606G>T			D3DQL9|Q2V508	Silent	SNP	ENST00000239223.3	hg19	CCDS4380.1																																																																																				0.493	DUSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252943.3	NM_004417		T	172196606	G	T	172196606	2	4	786	1	0	0	0	0	0	0	0	1	4811	987	35	4		4	DUSP1	5	172196606	Silent	SNP	G	TCGA-SX-A71V-01A-11D-A33Q-10	3178536	172196606	8718654	37	46677											
MOG	4340	hgsc.bcm.edu	37	6	29634002	29634002	+	Silent	SNP	T	T	G			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr6:29634002T>G	ENST00000376917.3	+	3	739	c.510T>G	c.(508-510)acT>acG	p.T170T	MOG_ENST00000396701.2_Silent_p.T170T|MOG_ENST00000396704.3_Silent_p.T170T|MOG_ENST00000416766.2_Intron|MOG_ENST00000483013.1_Silent_p.T54T|MOG_ENST00000533330.2_3'UTR|MOG_ENST00000490427.1_Silent_p.T54T|MOG_ENST00000376894.4_Silent_p.T170T|MOG_ENST00000494692.1_Silent_p.T170T|MOG_ENST00000376898.3_Silent_p.T170T|MOG_ENST00000376902.3_3'UTR|MOG_ENST00000376888.2_Silent_p.T54T|MOG_ENST00000376891.4_Silent_p.T170T|MOG_ENST00000431798.2_Silent_p.T170T	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	170					cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						TGCAGATCACTGTTGGCCTCA	0.542																																																0													256	224	236					6																	29634002		1511	2709	4220	SO:0001819	synonymous_variant	4340				CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099	ENST00000376917.3:c.510T>G	chr6.hg19:g.29634002T>G			A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Silent	SNP	ENST00000376917.3	hg19	CCDS34370.1																																																																																				0.542	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433		G	29634002	T	G	29634002	2	3	786	1	0	0	0	0	0	0	0	1	9695	1567	55	5		5	MOG	6	29634002	Silent	SNP	T	TCGA-SX-A71V-01A-11D-A33Q-10		29634002	141481065	38	46678											
MDC1	9656	hgsc.bcm.edu	37	6	30681674	30681674	+	Silent	SNP	G	G	C			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr6:30681674G>C	ENST00000376406.3	-	3	1070	c.423C>G	c.(421-423)tcC>tcG	p.S141S	MDC1_ENST00000494654.1_5'Flank|MDC1_ENST00000376405.2_Silent_p.S141S|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	141	Interaction with CHEK2.|Interaction with the MRN complex.				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						GAGGGCCCCGGGAGACAAAGG	0.562								Other conserved DNA damage response genes																																								0													65	75	72					6																	30681674		1511	2709	4220	SO:0001819	synonymous_variant	9656			D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.423C>G	chr6.hg19:g.30681674G>C			A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Silent	SNP	ENST00000376406.3	hg19	CCDS34384.1																																																																																				0.562	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		C	30681674	G	C	30681674	2	2	786	1	0	0	0	0	0	0	0	1	9405	1219	43	4		4	MDC1	6	30681674	Silent	SNP	G	TCGA-SX-A71V-01A-11D-A33Q-10	1047672	30681674	140433393	39	46679											
MAPK14	1432	hgsc.bcm.edu	37	6	36027090	36027091	+	Missense_Mutation	DNP	AC	AC	CA			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	A|C	A|C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr6:36027090_36027091AC>CA	ENST00000229794.4	+	3	659_660	c.271_272AC>CA	c.(271-273)ACa>CAa	p.T91Q	MAPK14_ENST00000229795.3_Missense_Mutation_p.T91Q|MAPK14_ENST00000468133.1_Missense_Mutation_p.T14Q|MAPK14_ENST00000310795.4_Missense_Mutation_p.T91Q	NM_139012.2|NM_139014.2	NP_620581.1|NP_620583.1	Q16539	MK14_HUMAN	mitogen-activated protein kinase 14	91	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cartilage condensation (GO:0001502)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to ionizing radiation (GO:0071479)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chemotaxis (GO:0006935)|chondrocyte differentiation (GO:0002062)|DNA damage checkpoint (GO:0000077)|fatty acid oxidation (GO:0019395)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|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)|myoblast differentiation involved in skeletal muscle regeneration (GO:0014835)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoclast differentiation (GO:0030316)|p38MAPK cascade (GO:0038066)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myoblast fusion (GO:1901741)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Ras protein signal transduction (GO:0007265)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to muramyl dipeptide (GO:0032495)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|signal transduction in response to DNA damage (GO:0042770)|skeletal muscle tissue development (GO:0007519)|stress-activated MAPK cascade (GO:0051403)|stress-induced premature senescence (GO:0090400)|striated muscle cell differentiation (GO:0051146)|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)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|MAP kinase kinase activity (GO:0004708)|NFAT protein binding (GO:0051525)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1)	16						GGACGTTTTTACACCTGCAAGG	0.337																																					Pancreas(20;8 363 26997 32430 36377 43317 49243 50560 51947)|Colon(176;951 1093 20177 30266 32328 34418 35271 44052 51610)											0																																										SO:0001583	missense	1432			L35263	CCDS4815.1, CCDS4816.1, CCDS4817.1	6p21.3-p21.2	2011-06-09			ENSG00000112062	ENSG00000112062		"Mitogen-activated protein kinase cascade / Kinases"	6876	protein-coding gene	gene with protein product	"p38 MAP kinase"	600289		CSPB1, CSBP1, CSBP2		7997261	Standard	NM_139012		Approved	PRKM14, p38, Mxi2, PRKM15	uc003olq.3	Q16539	OTTHUMG00000159806	Exception_encountered	chr6.hg19:g.36027090_36027091delinsCA	ENSP00000229794:p.Thr91Gln		A6ZJ92|A8K6P4|B0LPH0|B5TY32|O60776|Q13083|Q14084|Q8TDX0	Missense_Mutation	SNP	ENST00000229794.4	hg19	CCDS4816.1																																																																																				0.337	MAPK14-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357450.1	NM_001315		CA	36027091	AC	CA	36027090	3	2	786	1	0	0	0	0	1	0	0	0	9278	391	14	5	281	5	MAPK14	6	36027090	Missense_Mutation	DNP	AC	TCGA-SX-A71V-01A-11D-A33Q-10	5345416	36027090	135087977	40	46680											
PPIL1	51645	hgsc.bcm.edu	37	6	36823708	36823708	+	Frame_Shift_Del	DEL	T	T	-			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr6:36823708delT	ENST00000373699.5	-	4	633	c.382delA	c.(382-384)attfs	p.I128fs	PPIL1_ENST00000483552.1_5'UTR	NM_016059.4	NP_057143.1	Q9Y3C6	PPIL1_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 1	128	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			lung(1)|ovary(1)	2						CGGCCAAAAATGGTGTGTTTG	0.552																																																0													90	79	83					6																	36823708		2203	4300	6503	SO:0001589	frameshift_variant	51645			AF090992	CCDS4826.1	6p21.1	2008-08-29			ENSG00000137168	ENSG00000137168			9260	protein-coding gene	gene with protein product		601301				10072585, 8978786	Standard	NM_016059		Approved	CYPL1	uc003omu.2	Q9Y3C6	OTTHUMG00000014612	ENST00000373699.5:c.382delA	chr6.hg19:g.36823708delT	ENSP00000362803:p.Ile128fs		O15001|Q5TDC9	Frame_Shift_Del	DEL	ENST00000373699.5	hg19	CCDS4826.1																																																																																				0.552	PPIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040382.1			-	36823708	T	-	36823708	7	5	786	1	0	1	0	1	0	0	0	0	12331	1464	51	0	122	0	PPIL1	6	36823708	Frame_Shift_Del	DEL	T	TCGA-SX-A71V-01A-11D-A33Q-10	796618	36823708	134291359	41	46681											
ZNF292	23036	hgsc.bcm.edu	37	6	87967887	87967887	+	Missense_Mutation	SNP	A	A	G			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr6:87967887A>G	ENST00000369577.3	+	8	4583	c.4540A>G	c.(4540-4542)Aca>Gca	p.T1514A	ZNF292_ENST00000339907.4_Missense_Mutation_p.T1509A	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1514						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)		TCATGTTTCAACAGGTTGTGT	0.448																																																0													41	41	41					6																	87967887		1995	4156	6151	SO:0001583	missense	23036			AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"Zinc fingers, C2H2-type"	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.4540A>G	chr6.hg19:g.87967887A>G	ENSP00000358590:p.Thr1514Ala		Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	hg19	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	A	7.769	0.707088	0.15239	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.07114	3.22;3.23	5.87	-8.87	0.00792	.	0.913634	0.09402	N	0.806994	T	0.01061	0.0035	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47761	-0.9092	10	0.54805	T	0.06	.	1.7259	0.02921	0.22:0.2477:0.3344:0.1979	.	1514	O60281	ZN292_HUMAN	A	1514;1509	ENSP00000358590:T1514A;ENSP00000342847:T1509A	ENSP00000342847:T1509A	T	+	1	0	ZNF292	88024606	0.000000	0.05858	0.004000	0.12327	0.911000	0.54048	-0.943000	0.03917	-1.272000	0.02427	-0.250000	0.11733	ACA		0.448	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		G	87967887	A	G	87967887	3	3	786	1	0	0	0	0	1	0	0	0	17831	43	2	3	4570	3	ZNF292	6	87967887	Missense_Mutation	SNP	A	TCGA-SX-A71V-01A-11D-A33Q-10	51144179	87967887	83147180	42	46682											
CASP8AP2	9994	hgsc.bcm.edu	37	6	90575693	90575693	+	RNA	SNP	C	C	G			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr6:90575693C>G	ENST00000551025.1	+	0	4121									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)		CCAAATTCAGCTCATTCTACC	0.289																																					Colon(187;1656 2025 17045 31481 39901)											0													16	15	16					6																	90575693		1803	4056	5859			9994			AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"FLICE-associated huge protein"	606880	"CASP8 associated protein 2"			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		chr6.hg19:g.90575693C>G				Missense_Mutation	SNP	ENST00000551025.1	hg19																																																																																					0.289	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		NM_001137667		G	90575693	C	G	90575693	1	3	786	0	1	0	0	0	0	0	0	0	2680	797	28	4		4	CASP8AP2	6	90575693	RNA	SNP	C	TCGA-SX-A71V-01A-11D-A33Q-10	2607806	90575693	80539374	43	46683											
HOXA7	3204	hgsc.bcm.edu	37	7	27194784	27194784	+	Missense_Mutation	SNP	T	T	C			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr7:27194784T>C	ENST00000242159.3	-	2	570	c.437A>G	c.(436-438)gAg>gGg	p.E146G	HOXA7_ENST00000523796.2_5'UTR|HOXA-AS3_ENST00000524304.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA-AS3_ENST00000518947.2_RNA|HOXA-AS3_ENST00000521231.1_RNA|RP1-170O19.23_ENST00000498652.1_RNA|HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS3_ENST00000521197.1_RNA	NM_006896.3	NP_008827.2	P31268	HXA7_HUMAN	homeobox A7	146					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						GAACTCCTTCTCCAGCTCCAG	0.597																																																0													100	98	98					7																	27194784		2203	4300	6503	SO:0001583	missense	3204				CCDS5408.1	7p15.2	2011-06-20	2005-12-22		ENSG00000122592	ENSG00000122592		"Homeoboxes / ANTP class : HOXL subclass"	5108	protein-coding gene	gene with protein product		142950	"homeo box A7"	HOX1A, HOX1		1973146, 1358459	Standard	NM_006896		Approved		uc003sys.3	P31268	OTTHUMG00000023217	ENST00000242159.3:c.437A>G	chr7.hg19:g.27194784T>C	ENSP00000242159:p.Glu146Gly		A4D191|O43368|O43486|O95655|Q9NSC8|Q9UDM1	Missense_Mutation	SNP	ENST00000242159.3	hg19	CCDS5408.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.440700	0.83993	.	.	ENSG00000122592	ENST00000242159	D	0.97831	-4.56	5.0	5.0	0.66597	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99127	0.9699	H	0.97186	3.955	0.80722	D	1	D	0.54207	0.965	D	0.69142	0.962	D	0.99078	1.0836	10	0.72032	D	0.01	.	14.697	0.69129	0.0:0.0:0.0:1.0	.	146	P31268	HXA7_HUMAN	G	146	ENSP00000242159:E146G	ENSP00000242159:E146G	E	-	2	0	HOXA7	27161309	1.000000	0.71417	0.999000	0.59377	0.957000	0.61999	7.904000	0.87408	1.887000	0.54652	0.379000	0.24179	GAG		0.597	HOXA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358695.1			C	27194784	T	C	27194784	3	2	786	1	0	0	0	0	1	0	0	0	7299	1551	54	3	259	3	HOXA7	7	27194784	Missense_Mutation	SNP	T	TCGA-SX-A71V-01A-11D-A33Q-10		27194784	131943879	44	46684											
PCLO	27445	hgsc.bcm.edu	37	7	82545774	82545774	+	Missense_Mutation	SNP	C	C	T			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr7:82545774C>T	ENST00000333891.9	-	7	11865	c.11528G>A	c.(11527-11529)aGa>aAa	p.R3843K	PCLO_ENST00000423517.2_Missense_Mutation_p.R3843K|PCLO_ENST00000437081.1_Missense_Mutation_p.R563K	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						TCGGGTTGGTCTTGTGCTACT	0.473																																																0													303	287	292					7																	82545774		2036	4183	6219	SO:0001583	missense	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.11528G>A	chr7.hg19:g.82545774C>T	ENSP00000334319:p.Arg3843Lys			Missense_Mutation	SNP	ENST00000333891.9	hg19	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.060110	0.55432	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.31769	1.48;1.5	5.67	5.67	0.87782	.	.	.	.	.	T	0.59390	0.2190	M	0.73962	2.25	0.58432	D	0.99999	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.83275	0.978;0.996;0.996	T	0.61417	-0.7067	9	0.87932	D	0	.	19.7691	0.96356	0.0:1.0:0.0:0.0	.	3774;3843;3843	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	K	3843;3843;563	ENSP00000334319:R3843K;ENSP00000388393:R3843K	ENSP00000334319:R3843K	R	-	2	0	PCLO	82383710	1.000000	0.71417	0.896000	0.35187	0.120000	0.20174	7.818000	0.86416	2.689000	0.91719	0.462000	0.41574	AGA		0.473	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		T	82545774	C	T	82545774	3	4	786	1	0	0	0	0	1	0	0	0	11585	913	32	2	3993	2	PCLO	7	82545774	Missense_Mutation	SNP	C	TCGA-SX-A71V-01A-11D-A33Q-10	55350990	82545774	76592889	45	46685											
UBN2	254048	hgsc.bcm.edu	37	7	138943310	138943310	+	Missense_Mutation	SNP	G	G	T			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr7:138943310G>T	ENST00000473989.3	+	4	740	c.740G>T	c.(739-741)cGc>cTc	p.R247L	UBN2_ENST00000288561.8_Missense_Mutation_p.R164L	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	247						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						CTACAGTTTCGCCAAGCTTCA	0.363																																																0													103	93	96					7																	138943310		1854	4090	5944	SO:0001583	missense	254048			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.740G>T	chr7.hg19:g.138943310G>T	ENSP00000418648:p.Arg247Leu		A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Missense_Mutation	SNP	ENST00000473989.3	hg19	CCDS43655.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.450349|5.450349	0.96205|0.96205	.|.	.|.	ENSG00000157741|ENSG00000157741	ENST00000483726|ENST00000486663;ENST00000473989;ENST00000288561	.|T;T;T	.|0.27256	.|1.68;1.68;1.68	5.27|5.27	5.27|5.27	0.74061|0.74061	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.54175|0.54175	0.1842|0.1842	M|M	0.76328|0.76328	2.33|2.33	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.85130	.|0.997	T|T	0.56986|0.56986	-0.7888|-0.7888	5|10	.|0.72032	.|D	.|0.01	-7.8458|-7.8458	19.2541|19.2541	0.93938|0.93938	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|247	.|Q6ZU65	.|UBN2_HUMAN	S|L	16|70;247;164	.|ENSP00000417849:R70L;ENSP00000418648:R247L;ENSP00000288561:R164L	.|ENSP00000288561:R164L	A|R	+|+	1|2	0|0	UBN2|UBN2	138593850|138593850	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	9.713000|9.713000	0.98740|0.98740	2.628000|2.628000	0.89032|0.89032	0.460000|0.460000	0.39030|0.39030	GCC|CGC		0.363	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	NM_173569		T	138943310	G	T	138943310	3	4	786	1	0	0	0	0	1	0	0	0	16898	1087	38	4	754	4	UBN2	7	138943310	Missense_Mutation	SNP	G	TCGA-SX-A71V-01A-11D-A33Q-10	56397536	138943310	20195353	46	46686											
GIMAP8	155038	hgsc.bcm.edu	37	7	150171317	150171317	+	Silent	SNP	C	C	T			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr7:150171317C>T	ENST00000307271.3	+	4	1474	c.900C>T	c.(898-900)atC>atT	p.I300I		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	300	AIG1-type G 2.					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)		AAGTTTCGATCATTGATGCTC	0.478																																																0													81	89	87					7																	150171317		2203	4300	6503	SO:0001819	synonymous_variant	155038			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.900C>T	chr7.hg19:g.150171317C>T				Silent	SNP	ENST00000307271.3	hg19	CCDS34777.1																																																																																				0.478	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350701.1	NM_175571		T	150171317	C	T	150171317	2	4	786	1	0	0	0	0	0	0	0	1	6387	816	29	2		2	GIMAP8	7	150171317	Silent	SNP	C	TCGA-SX-A71V-01A-11D-A33Q-10	11228007	150171317	8967346	47	46687											
AGPAT6	137964	hgsc.bcm.edu	37	8	41476269	41476269	+	Silent	SNP	C	C	A			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr8:41476269C>A	ENST00000396987.3	+	11	2047	c.1120C>A	c.(1120-1122)Cga>Aga	p.R374R	RP11-360L9.8_ENST00000581909.1_RNA	NM_178819.3	NP_848934.1	Q86UL3	GPAT4_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 6	374					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|diacylglycerol metabolic process (GO:0046339)|fatty acid metabolic process (GO:0006631)|glandular epithelial cell maturation (GO:0002071)|glycerophospholipid biosynthetic process (GO:0046474)|lactation (GO:0007595)|lipid biosynthetic process (GO:0008610)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|regulation of multicellular organism growth (GO:0040014)|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)|membrane (GO:0016020)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			endometrium(3)|kidney(2)|large_intestine(3)|lung(6)	14	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)			GTACCTGCTGCGAATGATGAC	0.547																																																0													204	178	187					8																	41476269		2203	4300	6503	SO:0001819	synonymous_variant	137964			AF406612	CCDS6117.1	8p11.21	2013-02-05	2013-02-05			ENSG00000158669	2.3.1.15	"1-acylglycerol-3-phosphate O-acyltransferases"	20880	protein-coding gene	gene with protein product	"lysophosphatidic acid acyltransferase, zeta"	608143	"1-acylglycerol-3-phosphate O-acyltransferase 6 (lysophosphatidic acid acyltransferase, zeta)"			12938015	Standard	NM_178819		Approved	DKFZp586M1819, LPAAT-zeta	uc003xnz.2	Q86UL3		ENST00000396987.3:c.1120C>A	chr8.hg19:g.41476269C>A			Q86V89	Silent	SNP	ENST00000396987.3	hg19	CCDS6117.1																																																																																				0.547	AGPAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377158.1	NM_178819		A	41476269	C	A	41476269	2	1	786	1	0	0	0	0	0	0	0	1	391	760	27	4		4	AGPAT6	8	41476269	Silent	SNP	C	TCGA-SX-A71V-01A-11D-A33Q-10		41476269	104887753	48	46688											
OXR1	55074	hgsc.bcm.edu	37	8	107719085	107719085	+	Missense_Mutation	SNP	A	A	G			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr8:107719085A>G	ENST00000442977.2	+	8	1438	c.1339A>G	c.(1339-1341)Aat>Gat	p.N447D	OXR1_ENST00000497705.1_Missense_Mutation_p.N379D|OXR1_ENST00000517566.2_Missense_Mutation_p.N446D|OXR1_ENST00000312046.6_Missense_Mutation_p.N439D|OXR1_ENST00000531443.1_Missense_Mutation_p.N446D|OXR1_ENST00000445937.1_Missense_Mutation_p.N446D|OXR1_ENST00000452423.2_5'UTR	NM_001198532.1	NP_001185461.1	Q8N573	OXR1_HUMAN	oxidation resistance 1	447					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)			TATAAAAGGTAATTCAGACCA	0.338																																																0													70	71	70					8																	107719085		2203	4300	6503	SO:0001583	missense	55074			AF309387	CCDS6304.2, CCDS47909.1, CCDS56547.1, CCDS56548.1, CCDS56549.1, CCDS56550.1	8q23	2013-03-14			ENSG00000164830	ENSG00000164830			15822	protein-coding gene	gene with protein product	"TBC/LysM-associated domain containing 3"	605609				11114193	Standard	NM_181354		Approved	TLDC3	uc011lht.2	Q8N573	OTTHUMG00000167682	ENST00000442977.2:c.1339A>G	chr8.hg19:g.107719085A>G	ENSP00000405424:p.Asn447Asp		A6NK11|A8KA34|B3KXL1|B7Z402|B7Z8N5|D3HIS6|Q3LIB5|Q6ZVK9|Q8N8V0|Q9H266|Q9NWC7	Missense_Mutation	SNP	ENST00000442977.2	hg19	CCDS56548.1	.	.	.	.	.	.	.	.	.	.	A	3.501	-0.101859	0.06967	.	.	ENSG00000164830	ENST00000445937;ENST00000531443;ENST00000517566;ENST00000442977;ENST00000497705;ENST00000312046	T;T;T;T;T;T	0.22743	2.78;2.78;2.78;2.78;1.94;2.77	5.29	0.47	0.16747	.	1.123310	0.06446	N	0.726853	T	0.14098	0.0341	L	0.29908	0.895	0.09310	N	0.999999	B;B;B;B;B	0.23249	0.0;0.001;0.0;0.003;0.082	B;B;B;B;B	0.20767	0.003;0.001;0.001;0.004;0.031	T	0.35599	-0.9782	10	0.22109	T	0.4	-12.2398	5.566	0.17170	0.4857:0.1807:0.3335:0.0	.	439;447;446;379;446	Q8N573-2;Q8N573;D3HIS6;Q8N573-3;Q8N573-5	.;OXR1_HUMAN;.;.;.	D	446;446;446;447;379;439	ENSP00000402918:N446D;ENSP00000431966:N446D;ENSP00000429205:N446D;ENSP00000405424:N447D;ENSP00000431014:N379D;ENSP00000311026:N439D	ENSP00000311026:N439D	N	+	1	0	OXR1	107788261	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	0.254000	0.18314	0.128000	0.18479	0.482000	0.46254	AAT		0.338	OXR1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_181354		G	107719085	A	G	107719085	3	3	786	1	0	0	0	0	1	0	0	0	11336	362	13	3	1569	3	OXR1	8	107719085	Missense_Mutation	SNP	A	TCGA-SX-A71V-01A-11D-A33Q-10	66242816	107719085	38644937	49	46689											
FAM83A	84985	hgsc.bcm.edu	37	8	124195568	124195569	+	Missense_Mutation	DNP	AC	AC	CT			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	A|C	A|C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr8:124195568_124195569AC>CT	ENST00000518448.1	+	2	2486_2487	c.472_473AC>CT	c.(472-474)ACt>CTt	p.T158L	FAM83A_ENST00000546351.1_Missense_Mutation_p.T158L|FAM83A_ENST00000522648.1_Missense_Mutation_p.T158L|FAM83A_ENST00000276699.6_Missense_Mutation_p.T158L|U3_ENST00000408534.1_RNA|FAM83A_ENST00000318462.6_Missense_Mutation_p.T158L|FAM83A_ENST00000536633.1_Missense_Mutation_p.T158L|RP11-539E17.5_ENST00000522383.1_RNA			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	158										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			CATCACCCGGACTAGCCAGGTA	0.594																																																0																																										SO:0001583	missense	84985			BC052300	CCDS6339.1, CCDS6340.1, CCDS75784.1	8q24.13	2014-03-13			ENSG00000147689	ENSG00000147689			28210	protein-coding gene	gene with protein product						22886303	Standard	XM_005251087		Approved	MGC14128, BJ-TSA-9	uc003ypx.3	Q86UY5	OTTHUMG00000165083	Exception_encountered	chr8.hg19:g.124195568_124195569delinsCT	ENSP00000428876:p.Thr158Leu		Q71HL2|Q8N7I1|Q96I47	Missense_Mutation	SNP	ENST00000518448.1	hg19	CCDS6340.1																																																																																				0.594	FAM83A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381737.1	NM_032899		CT	124195569	AC	CT	124195568	3	2	786	1	0	0	0	0	1	0	0	0	5635	275	10	5	474	5	FAM83A	8	124195568	Missense_Mutation	DNP	AC	TCGA-SX-A71V-01A-11D-A33Q-10	16476483	124195568	22168454	50	46690											
EIF2C2	27161	hgsc.bcm.edu	37	8	141554392	141554393	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	AC	AC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr8:141554392_141554393delAC	ENST00000220592.5	-	14	1870_1871	c.1758_1759delGT	c.(1756-1761)gtgttcfs	p.F587fs	AGO2_ENST00000519980.1_Frame_Shift_Del_p.F587fs	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	587	Interaction with GW182 family members. {ECO:0000255}.|Piwi. {ECO:0000255|HAMAP-Rule:MF_03031}.				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)										GGCTGCTGGAACACCGGCGGCC	0.653																																																0																																										SO:0001589	frameshift_variant	27161			AF121255	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908		"Argonaute/PIWI family"	3263	protein-coding gene	gene with protein product	"argonaute 2"	606229	"eukaryotic translation initiation factor 2C, 2"	EIF2C2		10534406, 12906857	Standard	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	Q9UKV8	OTTHUMG00000164232	ENST00000220592.5:c.1758_1759delGT	chr8.hg19:g.141554394_141554395delAC	ENSP00000220592:p.Phe587fs		Q8TCZ5|Q8WV58|Q96ID1	Frame_Shift_Del	DEL	ENST00000220592.5	hg19	CCDS6380.1																																																																																				0.653	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377866.4			-	141554393	AC	-	141554392	7	5	786	1	0	1	0	1	0	0	0	0	5008	43	2	0	844	0	EIF2C2	8	141554392	Frame_Shift_Del	DEL	AC	TCGA-SX-A71V-01A-11D-A33Q-10	17358824	141554392	4809630	51	46691											
PKN3	29941	hgsc.bcm.edu	37	9	131477477	131477477	+	Missense_Mutation	SNP	G	G	A			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr9:131477477G>A	ENST00000291906.4	+	14	2072	c.1679G>A	c.(1678-1680)cGc>cAc	p.R560H	PKN3_ENST00000485301.1_3'UTR	NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	560	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						CAGGACTTCCGCTGCTTAGCT	0.612																																																0													58	62	61					9																	131477477		2203	4300	6503	SO:0001583	missense	29941			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.1679G>A	chr9.hg19:g.131477477G>A	ENSP00000291906:p.Arg560His		Q9UM03	Missense_Mutation	SNP	ENST00000291906.4	hg19	CCDS6908.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.671151	0.47781	.	.	ENSG00000160447	ENST00000291906	T	0.66280	-0.2	5.33	4.43	0.53597	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	0.50752	0.1634	L	0.35723	1.085	0.39701	D	0.97118	B	0.17268	0.021	B	0.17722	0.019	T	0.49969	-0.8882	9	0.48119	T	0.1	.	9.7494	0.40466	0.0949:0.0:0.9051:0.0	.	560	Q6P5Z2	PKN3_HUMAN	H	560	ENSP00000291906:R560H	ENSP00000291906:R560H	R	+	2	0	PKN3	130517298	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	1.236000	0.32683	1.255000	0.44051	0.557000	0.71058	CGC		0.612	PKN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054487.1	NM_013355		A	131477477	G	A	131477477	3	1	786	1	0	0	0	0	1	0	0	0	11983	1087	38	1	1733	1	PKN3	9	131477477	Missense_Mutation	SNP	G	TCGA-SX-A71V-01A-11D-A33Q-10		131477477	9735954	52	46692											
RXRA	6256	hgsc.bcm.edu	37	9	137325968	137325968	+	Missense_Mutation	SNP	C	C	T			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr9:137325968C>T	ENST00000481739.1	+	9	1208	c.1156C>T	c.(1156-1158)Ccg>Tcg	p.P386S	RXRA_ENST00000540193.1_Missense_Mutation_p.P289S|RXRA_ENST00000356384.4_3'UTR	NM_002957.4	NP_002948.1	P19793	RXRA_HUMAN	retinoid X receptor, alpha	386	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)	GCTCTCGAACCCGGCCGAGGT	0.652																																																0													53	56	55					9																	137325968		2203	4300	6503	SO:0001583	missense	6256			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.1156C>T	chr9.hg19:g.137325968C>T	ENSP00000419692:p.Pro386Ser		B3KY83|Q2NL52|Q2V504	Missense_Mutation	SNP	ENST00000481739.1	hg19	CCDS35172.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.315159	0.40996	.	.	ENSG00000186350	ENST00000481739;ENST00000540193	D;D	0.96265	-3.96;-3.96	4.3	4.3	0.51218	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.91556	0.7333	N	0.15975	0.35	0.80722	D	1	B	0.17667	0.023	B	0.10450	0.005	D	0.87989	0.2748	10	0.33940	T	0.23	.	17.1165	0.86690	0.0:1.0:0.0:0.0	.	386	P19793	RXRA_HUMAN	S	386;289	ENSP00000419692:P386S;ENSP00000442123:P289S	ENSP00000419692:P386S	P	+	1	0	RXRA	136465789	1.000000	0.71417	0.985000	0.45067	0.978000	0.69477	7.443000	0.80521	2.102000	0.63906	0.491000	0.48974	CCG		0.652	RXRA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054949.1	NM_002957		T	137325968	C	T	137325968	3	4	786	1	0	0	0	0	1	0	0	0	13769	623	22	2	1190	2	RXRA	9	137325968	Missense_Mutation	SNP	C	TCGA-SX-A71V-01A-11D-A33Q-10	5848491	137325968	3887463	53	46693											
SVIL	6840	hgsc.bcm.edu	37	10	29756744	29756744	+	Missense_Mutation	SNP	T	T	A			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr10:29756744T>A	ENST00000355867.4	-	33	6656	c.5904A>T	c.(5902-5904)gaA>gaT	p.E1968D	PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000375400.3_Missense_Mutation_p.E1542D|SVIL_ENST00000375398.2_Missense_Mutation_p.E1968D|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000445521.1_RNA|PTCHD3P1_ENST00000455774.1_RNA|SVIL_ENST00000535393.1_Missense_Mutation_p.E882D|PTCHD3P1_ENST00000423223.1_RNA	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1968					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)				GCTCGGAGCCTTCATCACACT	0.498																																																0													128	111	117					10																	29756744		2203	4300	6503	SO:0001583	missense	6840			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.5904A>T	chr10.hg19:g.29756744T>A	ENSP00000348128:p.Glu1968Asp		D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	hg19	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	T	17.37	3.371683	0.61624	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867;ENST00000535393	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	5.42	-2.88	0.05682	.	0.000000	0.85682	D	0.000000	T	0.74068	0.3668	M	0.93763	3.455	0.80722	D	1	D;D;D	0.89917	1.0;0.992;0.997	D;D;D	0.97110	1.0;0.985;0.972	T	0.76119	-0.3076	10	0.72032	D	0.01	-19.859	11.3269	0.49454	0.0:0.3744:0.0:0.6256	.	882;1542;1968	F5H2Q5;O95425-2;O95425	.;.;SVIL_HUMAN	D	1542;1968;1968;882	ENSP00000364549:E1542D;ENSP00000364547:E1968D;ENSP00000348128:E1968D;ENSP00000445472:E882D	ENSP00000348128:E1968D	E	-	3	2	SVIL	29796750	0.996000	0.38824	0.332000	0.25469	0.295000	0.27426	0.336000	0.19823	-0.671000	0.05274	-0.256000	0.11100	GAA		0.498	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			A	29756744	T	A	29756744	3	1	786	1	0	0	0	0	1	0	0	0	15426	1606	56	5	764	5	SVIL	10	29756744	Missense_Mutation	SNP	T	TCGA-SX-A71V-01A-11D-A33Q-10		29756744	105778003	54	46694											
TET1	80312	hgsc.bcm.edu	37	10	70451029	70451029	+	Missense_Mutation	SNP	A	A	G	rs147755307		TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr10:70451029A>G	ENST00000373644.4	+	12	6078	c.5869A>G	c.(5869-5871)Atg>Gtg	p.M1957V		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1957					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CTCTTCTCCAATGGAAGAAGA	0.542																																																0								A	VAL/MET	0,4406		0,0,2203	116	102	107		5869	-1.6	0	10	dbSNP_134	107	1,8599	1.2+/-3.3	0,1,4299	no	missense	TET1	NM_030625.2	21	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	1957/2137	70451029	1,13005	2203	4300	6503	SO:0001583	missense	80312			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"leukemia-associated protein with a CXXC domain", "ten-eleven translocation-1"	607790	"CXXC zinc finger 6", "tet oncogene 1"	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.5869A>G	chr10.hg19:g.70451029A>G	ENSP00000362748:p.Met1957Val		Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	hg19	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	A	0.003	-2.433229	0.00182	0.0	1.16E-4	ENSG00000138336	ENST00000373644	T	0.05580	3.42	5.53	-1.65	0.08291	Methylcytosine dioxygenase TET, double-stranded beta helix fold domain (1);	2.646000	0.01051	N	0.004474	T	0.01835	0.0058	N	0.00879	-1.12	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40478	-0.9561	10	0.06236	T	0.91	.	4.764	0.13123	0.364:0.2719:0.3641:0.0	.	1957	Q8NFU7	TET1_HUMAN	V	1957	ENSP00000362748:M1957V	ENSP00000362748:M1957V	M	+	1	0	TET1	70121035	0.000000	0.05858	0.000000	0.03702	0.104000	0.19210	0.332000	0.19751	-0.345000	0.08325	-0.313000	0.08912	ATG		0.542	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		G	70451029	A	G	70451029	3	3	786	1	0	0	0	0	1	0	0	0	15774	101	4	3	5911	3	TET1	10	70451029	Missense_Mutation	SNP	A	TCGA-SX-A71V-01A-11D-A33Q-10	40694285	70451029	65083718	55	46695											
LRRC20	55222	hgsc.bcm.edu	37	10	72083705	72083705	+	Missense_Mutation	SNP	G	G	C			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr10:72083705G>C	ENST00000355790.4	-	4	791	c.314C>G	c.(313-315)tCc>tGc	p.S105C	LRRC20_ENST00000395011.1_Missense_Mutation_p.S55C|LRRC20_ENST00000373224.1_Missense_Mutation_p.S105C|LRRC20_ENST00000395010.1_Intron|LRRC20_ENST00000358141.2_Missense_Mutation_p.S55C	NM_001278212.1|NM_001278214.1|NM_207119.1	NP_001265141.1|NP_001265143.1|NP_997002.1	Q8TCA0	LRC20_HUMAN	leucine rich repeat containing 20	105										endometrium(2)|large_intestine(4)|lung(2)|urinary_tract(1)	9						CTGGTTCCGGGACAGGTCAAT	0.637																																																0													97	83	88					10																	72083705		2203	4300	6503	SO:0001583	missense	55222			BC024001	CCDS7300.1, CCDS7301.1, CCDS7302.1, CCDS73145.1	10q22.2	2004-04-15			ENSG00000172731	ENSG00000172731			23421	protein-coding gene	gene with protein product							Standard	NM_207119		Approved	FLJ10751, FLJ10844	uc031pvr.1	Q8TCA0	OTTHUMG00000018407	ENST00000355790.4:c.314C>G	chr10.hg19:g.72083705G>C	ENSP00000348043:p.Ser105Cys		Q5T6D4|Q5T6D6|Q9NVA6|Q9NVG3	Missense_Mutation	SNP	ENST00000355790.4	hg19	CCDS7302.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.430343	0.83776	.	.	ENSG00000172731	ENST00000373224;ENST00000355790;ENST00000395011;ENST00000358141;ENST00000446961	T;T;T;T;T	0.59502	0.26;0.26;1.53;1.53;0.26	5.37	5.37	0.77165	.	0.114590	0.64402	D	0.000012	T	0.76550	0.4003	M	0.77486	2.375	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.71870	0.971;0.975	T	0.78352	-0.2237	10	0.54805	T	0.06	-36.6006	17.6721	0.88221	0.0:0.0:1.0:0.0	.	55;105	Q8TCA0-2;Q8TCA0	.;LRC20_HUMAN	C	105;105;55;55;105	ENSP00000362321:S105C;ENSP00000348043:S105C;ENSP00000378458:S55C;ENSP00000350860:S55C;ENSP00000413745:S105C	ENSP00000348043:S105C	S	-	2	0	LRRC20	71753711	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.513000	0.81739	2.514000	0.84764	0.563000	0.77884	TCC		0.637	LRRC20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048510.1	NM_018239		C	72083705	G	C	72083705	3	2	786	1	0	0	0	0	1	0	0	0	8979	1174	41	4	248	4	LRRC20	10	72083705	Missense_Mutation	SNP	G	TCGA-SX-A71V-01A-11D-A33Q-10	1632676	72083705	63451042	56	46696											
CDH23	64072	hgsc.bcm.edu	37	10	73550921	73550921	+	Missense_Mutation	SNP	G	G	A			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr10:73550921G>A	ENST00000224721.6	+	46	6102	c.6097G>A	c.(6097-6099)Gac>Aac	p.D2033N		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2028	Cadherin 19. {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						TGTCATCATTGACCGGGAGGC	0.622																																																0													44	49	47					10																	73550921		2189	4288	6477	SO:0001583	missense	64072			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.6097G>A	chr10.hg19:g.73550921G>A	ENSP00000224721:p.Asp2033Asn		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	hg19		.	.	.	.	.	.	.	.	.	.	G	35	5.558045	0.96514	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721	.	.	.	5.91	5.91	0.95273	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.85208	0.5644	M	0.86343	2.81	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85488	0.1183	9	0.52906	T	0.07	.	20.2985	0.98592	0.0:0.0:1.0:0.0	.	2028	Q9H251	CAD23_HUMAN	N	2033;2028;2031	.	ENSP00000224721:D2033N	D	+	1	0	CDH23	73220927	1.000000	0.71417	1.000000	0.80357	0.754000	0.42855	9.132000	0.94455	2.793000	0.96121	0.655000	0.94253	GAC		0.622	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		A	73550921	G	A	73550921	3	1	786	1	0	0	0	0	1	0	0	0	3110	1290	45	2	6609	2	CDH23	10	73550921	Missense_Mutation	SNP	G	TCGA-SX-A71V-01A-11D-A33Q-10	1467216	73550921	61983826	57	46697											
SLC16A12	387700	hgsc.bcm.edu	37	10	91195920	91195920	+	Silent	SNP	T	T	A			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr10:91195920T>A	ENST00000341233.4	-	7	1485	c.1095A>T	c.(1093-1095)ccA>ccT	p.P365P	SLC16A12_ENST00000371790.4_Silent_p.P395P	NM_213606.3	NP_998771.3	Q6ZSM3	MOT12_HUMAN	solute carrier family 16, member 12	365						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						TGGTCACTACTGGGATCAAAG	0.512																																																0													129	101	110					10																	91195920		2203	4300	6503	SO:0001819	synonymous_variant	387700				CCDS7404.1, CCDS7404.2	10q23.32	2013-07-18	2013-07-18		ENSG00000152779	ENSG00000152779		"Solute carriers"	23094	protein-coding gene	gene with protein product	"monocarboxylic acid transporter 12"	611910	"solute carrier family 16 (monocarboxylic acid transporters), member 12", "solute carrier family 16, member 12 (monocarboxylic acid transporter 12)"				Standard	NM_213606		Approved	MCT12	uc001kgm.3	Q6ZSM3	OTTHUMG00000018714	ENST00000341233.4:c.1095A>T	chr10.hg19:g.91195920T>A			Q5M9M9|Q5T7J2|Q6ZV76	Silent	SNP	ENST00000341233.4	hg19																																																																																					0.512	SLC16A12-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_213606		A	91195920	T	A	91195920	2	1	786	1	0	0	0	0	0	0	0	1	14411	1567	55	5		5	SLC16A12	10	91195920	Silent	SNP	T	TCGA-SX-A71V-01A-11D-A33Q-10	17644999	91195920	44338827	58	46698											
SLIT1	6585	hgsc.bcm.edu	37	10	98803147	98803147	+	Silent	SNP	G	G	A			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr10:98803147G>A	ENST00000266058.4	-	19	2222	c.1977C>T	c.(1975-1977)acC>acT	p.T659T	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Silent_p.T659T	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	659					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)		GGGACTGGAGGGTGTCGAAGG	0.642																																																0													204	207	206					10																	98803147		2203	4300	6503	SO:0001819	synonymous_variant	6585			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.1977C>T	chr10.hg19:g.98803147G>A			Q5T0V1|Q8WWZ2|Q9UIL7	Silent	SNP	ENST00000266058.4	hg19	CCDS7453.1																																																																																				0.642	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		A	98803147	G	A	98803147	2	1	786	1	0	0	0	0	0	0	0	1	14745	1219	43	2		2	SLIT1	10	98803147	Silent	SNP	G	TCGA-SX-A71V-01A-11D-A33Q-10	7607227	98803147	36731600	59	46699											
TIAL1	7073	hgsc.bcm.edu	37	10	121339523	121339523	+	Splice_Site	SNP	C	C	G			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr10:121339523C>G	ENST00000436547.2	-	6	416		c.e6-1		TIAL1_ENST00000463089.2_5'Flank|TIAL1_ENST00000369092.4_Splice_Site|TIAL1_ENST00000369093.2_Splice_Site	NM_003252.3	NP_003243.1	Q01085	TIAR_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein-like 1						apoptotic process (GO:0006915)|defense response (GO:0006952)|germ cell development (GO:0007281)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell division (GO:0017145)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	13		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)		CCGGGCATCCCTGTGAAAAGA	0.368																																																0													52	52	52					10																	121339523		2203	4300	6503	SO:0001630	splice_region_variant	7073			AL833106	CCDS7613.1, CCDS31295.1	10q	2013-02-12	2001-11-28		ENSG00000151923	ENSG00000151923		"RNA binding motif (RRM) containing"	11804	protein-coding gene	gene with protein product		603413	"TIA1 cytotoxic granule-associated RNA-binding protein-like 1"			1326761	Standard	XM_005270108		Approved	TIAR	uc001lej.1	Q01085	OTTHUMG00000019156	ENST00000436547.2:c.372-1G>C	chr10.hg19:g.121339523C>G			A8K3T0|A8K4L9	Splice_Site	SNP	ENST00000436547.2	hg19	CCDS7613.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.410918	0.83340	.	.	ENSG00000151923	ENST00000369093;ENST00000369092;ENST00000436547;ENST00000412524	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4345	0.94786	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TIAL1	121329513	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.717000	0.84732	2.587000	0.87381	0.563000	0.77884	.		0.368	TIAL1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050672.2	NM_022333, NM_003252	Intron	G	121339523	C	G	121339523	5	3	786	1	0	0	0	0	0	0	1	0	15894	695	24	4	784	4	TIAL1	10	121339523	Splice_Site	SNP	C	TCGA-SX-A71V-01A-11D-A33Q-10	22536376	121339523	14195224	60	46700											
RIC8A	60626	hgsc.bcm.edu	37	11	209726	209726	+	Missense_Mutation	SNP	A	A	C			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr11:209726A>C	ENST00000526104.1	+	3	1796	c.452A>C	c.(451-453)tAc>tCc	p.Y151S	BET1L_ENST00000529614.2_5'Flank|BET1L_ENST00000410108.1_5'Flank|RIC8A_ENST00000325207.5_Missense_Mutation_p.Y151S|BET1L_ENST00000382762.3_5'Flank|BET1L_ENST00000332865.6_5'Flank|RIC8A_ENST00000527696.1_Missense_Mutation_p.Y145S|BET1L_ENST00000325147.9_5'Flank|BET1L_ENST00000486280.1_5'Flank			Q9NPQ8	RIC8A_HUMAN	RIC8 guanine nucleotide exchange factor A	151					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)		GTGGGGCTGTACCGTGAGAGG	0.612																																																0													58	51	54					11																	209726		2203	4300	6503	SO:0001583	missense	60626			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.452A>C	chr11.hg19:g.209726A>C	ENSP00000432008:p.Tyr151Ser		Q0P508|Q2T9J1|Q7Z352|Q96EZ1|Q96SZ2|Q9H064|Q9H5H3|Q9H9E7	Missense_Mutation	SNP	ENST00000526104.1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.422|8.422	0.846586|0.846586	0.16963|0.16963	.|.	.|.	ENSG00000177963|ENSG00000177963	ENST00000527728|ENST00000526104;ENST00000325207;ENST00000528357;ENST00000530889;ENST00000527696;ENST00000527468	.|.	.|.	.|.	4.45|4.45	-1.06|-1.06	0.10002|0.10002	.|Armadillo-type fold (1);	.|0.377347	.|0.30667	.|N	.|0.009138	T|T	0.21468|0.21468	0.0517|0.0517	N|N	0.21194|0.21194	0.64|0.64	0.09310|0.09310	N|N	0.999995|0.999995	.|B;B;B	.|0.17852	.|0.004;0.024;0.019	.|B;B;B	.|0.17979	.|0.005;0.02;0.011	T|T	0.13442|0.13442	-1.0509|-1.0509	5|9	.|0.22109	.|T	.|0.4	-1.5871|-1.5871	5.6898|5.6898	0.17823|0.17823	0.6387:0.1321:0.2291:0.0|0.6387:0.1321:0.2291:0.0	.|.	.|145;151;151	.|Q9NPQ8-2;Q9NPQ8;Q9NPQ8-3	.|.;RIC8A_HUMAN;.	P|S	33|151;151;127;155;145;41	.|.	.|ENSP00000325941:Y151S	T|Y	+|+	1|2	0|0	RIC8A|RIC8A	199726|199726	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.694000|0.694000	0.40290|0.40290	0.532000|0.532000	0.23067|0.23067	-0.289000|-0.289000	0.09038|0.09038	0.459000|0.459000	0.35465|0.35465	ACC|TAC		0.612	RIC8A-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000384761.1	NM_021932		C	209726	A	C	209726	3	2	786	1	0	0	0	0	1	0	0	0	13361	391	14	5	462	5	RIC8A	11	209726	Missense_Mutation	SNP	A	TCGA-SX-A71V-01A-11D-A33Q-10		209726	134796790	61	46701											
KCNQ1	3784	hgsc.bcm.edu	37	11	2799217	2799217	+	Missense_Mutation	SNP	G	G	C			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr11:2799217G>C	ENST00000155840.5	+	15	1852	c.1744G>C	c.(1744-1746)Gat>Cat	p.D582H	KCNQ1_ENST00000526095.1_3'UTR|KCNQ1_ENST00000335475.5_Missense_Mutation_p.D455H	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	582					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle contraction (GO:0060048)|cardiovascular system development (GO:0072358)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|gene silencing (GO:0016458)|male gonad development (GO:0008584)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of insulin secretion (GO:0046676)|positive regulation of gastric acid secretion (GO:0060454)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	basolateral plasma membrane (GO:0016323)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)|zymogen granule membrane (GO:0042589)	calmodulin binding (GO:0005516)|delayed rectifier potassium channel activity (GO:0005251)|ion channel binding (GO:0044325)|outward rectifier potassium channel activity (GO:0015271)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|protein phosphatase 1 binding (GO:0008157)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	AAAGAGCAAGGATCGCGGCAG	0.637																																																0													69	69	69					11																	2799217		2202	4299	6501	SO:0001583	missense	3784			AF000571	CCDS7736.1	11p15.5	2014-09-17			ENSG00000053918	ENSG00000053918		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6294	protein-coding gene	gene with protein product	"Jervell and Lange-Nielsen syndrome 1"	607542		LQT, KCNA9		8528244, 16382104	Standard	NM_181798		Approved	Kv7.1, KCNA8, KVLQT1, JLNS1, LQT1	uc001lwn.3	P51787	OTTHUMG00000009900	ENST00000155840.5:c.1744G>C	chr11.hg19:g.2799217G>C	ENSP00000155840:p.Asp582His		O00347|O60607|O94787|Q14D14|Q7Z6G9|Q92960|Q9UMN8|Q9UMN9	Missense_Mutation	SNP	ENST00000155840.5	hg19	CCDS7736.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.397789	0.42512	.	.	ENSG00000053918	ENST00000155840;ENST00000335475	D;D	0.99671	-6.35;-6.35	3.11	3.11	0.35812	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.071471	0.52532	D	0.000063	D	0.99438	0.9801	M	0.78049	2.395	0.48762	D	0.999707	P;P;D	0.63046	0.511;0.567;0.992	B;B;D	0.67900	0.18;0.275;0.954	D	0.97889	1.0296	10	0.59425	D	0.04	-30.827	12.4561	0.55706	0.0:0.0:1.0:0.0	.	455;455;582	P51787-2;Q14D14;P51787	.;.;KCNQ1_HUMAN	H	582;455	ENSP00000155840:D582H;ENSP00000334497:D455H	ENSP00000155840:D582H	D	+	1	0	KCNQ1	2755793	1.000000	0.71417	1.000000	0.80357	0.220000	0.24768	7.172000	0.77604	2.043000	0.60533	0.313000	0.20887	GAT		0.637	KCNQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027382.2	NM_000218		C	2799217	G	C	2799217	3	2	786	1	0	0	0	0	1	0	0	0	8084	1174	41	4	1811	4	KCNQ1	11	2799217	Missense_Mutation	SNP	G	TCGA-SX-A71V-01A-11D-A33Q-10	2589491	2799217	132207299	62	46702											
C11orf58	10944	hgsc.bcm.edu	37	11	16776551	16776551	+	Missense_Mutation	SNP	T	T	G			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr11:16776551T>G	ENST00000228136.4	+	5	830	c.452T>G	c.(451-453)cTc>cGc	p.L151R	C11orf58_ENST00000525684.1_3'UTR|C11orf58_ENST00000422258.2_Missense_Mutation_p.L107R			O00193	SMAP_HUMAN	chromosome 11 open reading frame 58	151										NS(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)	7						GCTGAAGAACTCCAAGCTGCT	0.393																																																0													72	77	75					11																	16776551		2200	4294	6494	SO:0001583	missense	10944			BC007103	CCDS7822.1	11p15.1	2012-05-30			ENSG00000110696	ENSG00000110696			16990	protein-coding gene	gene with protein product	"small acidic protein"					9263035	Standard	NM_014267		Approved	SMAP	uc001mmk.2	O00193	OTTHUMG00000165910	ENST00000228136.4:c.452T>G	chr11.hg19:g.16776551T>G	ENSP00000228136:p.Leu151Arg		B2RD28	Missense_Mutation	SNP	ENST00000228136.4	hg19	CCDS7822.1	.	.	.	.	.	.	.	.	.	.	T	8.393	0.840219	0.16891	.	.	ENSG00000110696	ENST00000228136;ENST00000422258	.	.	.	5.21	5.21	0.72293	.	0.639834	0.16310	N	0.220024	T	0.32704	0.0838	L	0.29908	0.895	0.37202	D	0.904438	B	0.25312	0.123	B	0.16289	0.015	T	0.20706	-1.0267	9	0.07030	T	0.85	.	6.5732	0.22551	0.0:0.0785:0.1566:0.7649	.	151	O00193	SMAP_HUMAN	R	151;107	.	ENSP00000228136:L151R	L	+	2	0	C11orf58	16733127	0.978000	0.34361	0.989000	0.46669	0.994000	0.84299	2.518000	0.45537	1.951000	0.56629	0.528000	0.53228	CTC		0.393	C11orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387023.2	NM_014267		G	16776551	T	G	16776551	3	3	786	1	0	0	0	0	1	0	0	0	1653	1551	54	5	470	5	C11orf58	11	16776551	Missense_Mutation	SNP	T	TCGA-SX-A71V-01A-11D-A33Q-10	13977334	16776551	118229965	63	46703											
RSF1	51773	hgsc.bcm.edu	37	11	77378053	77378054	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr11:77378053_77378054insCA	ENST00000308488.6	-	16	4536_4537	c.4234_4235insTG	c.(4234-4236)gggfs	p.G1412fs	RSF1_ENST00000360355.2_Frame_Shift_Ins_p.G1381fs|RSF1_ENST00000480887.1_Frame_Shift_Ins_p.G1160fs			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1412					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)			TGCCTCCTGCCCACCACTTGTC	0.485																																																0																																										SO:0001589	frameshift_variant	51773			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.4233_4234dupTG	chr11.hg19:g.77378054_77378055dupCA	ENSP00000311513:p.Gly1412fs		Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Frame_Shift_Ins	INS	ENST00000308488.6	hg19	CCDS8253.1																																																																																				0.485	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318075.2	NM_016578		CA	77378054	-	CA	77378053	7	5	786	1	0	1	1	0	0	0	0	0	13705	623	22	0	94	0	RSF1	11	77378053	Frame_Shift_Ins	INS	-	TCGA-SX-A71V-01A-11D-A33Q-10	60601502	77378053	57628463	64	46704											
HSPB2	3316	hgsc.bcm.edu	37	11	111784216	111784216	+	Missense_Mutation	SNP	T	T	C			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr11:111784216T>C	ENST00000304298.3	+	2	734	c.146T>C	c.(145-147)gTc>gCc	p.V49A	CRYAB_ENST00000526180.1_5'Flank|CRYAB_ENST00000527950.1_Intron|CRYAB_ENST00000525823.1_5'Flank|CRYAB_ENST00000227251.3_5'Flank|CRYAB_ENST00000533280.1_5'Flank|HSPB2-C11orf52_ENST00000534100.1_Intron|CRYAB_ENST00000531198.1_5'Flank|HSPB2_ENST00000537382.1_Missense_Mutation_p.V49A|CRYAB_ENST00000533475.1_Intron|CRYAB_ENST00000533971.1_5'Flank	NM_001541.3	NP_001532.1	Q16082	HSPB2_HUMAN	heat shock 27kDa protein 2	49					positive regulation of catalytic activity (GO:0043085)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)			large_intestine(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(61;3.75e-11)|all_epithelial(67;2.33e-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;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		GGCTACTATGTCCGGCCTCGG	0.627																																																0													136	147	144					11																	111784216		2201	4297	6498	SO:0001583	missense	3316			U75898	CCDS8352.1	11q22-q23	2011-09-02	2002-08-29			ENSG00000170276		"Heat shock proteins / HSPB"	5247	protein-coding gene	gene with protein product		602179	"heat shock 27kD protein 2"			9344664, 9490724	Standard	NM_001541		Approved	Hs.78846, MKBP	uc001pmg.2	Q16082		ENST00000304298.3:c.146T>C	chr11.hg19:g.111784216T>C	ENSP00000302476:p.Val49Ala		Q6I9U7	Missense_Mutation	SNP	ENST00000304298.3	hg19	CCDS8352.1	.	.	.	.	.	.	.	.	.	.	T	13.66	2.304473	0.40795	.	.	ENSG00000170276	ENST00000304298;ENST00000537382	D;D	0.90004	-2.6;-2.6	4.86	4.86	0.63082	.	0.429389	0.21511	N	0.073367	T	0.79621	0.4477	N	0.14661	0.345	0.35008	D	0.756652	B	0.14438	0.01	B	0.11329	0.006	T	0.77550	-0.2546	10	0.17369	T	0.5	-25.4453	14.9188	0.70818	0.0:0.0:0.0:1.0	.	49	Q16082	HSPB2_HUMAN	A	49	ENSP00000302476:V49A;ENSP00000445585:V49A	ENSP00000302476:V49A	V	+	2	0	HSPB2	111289426	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.167000	0.71902	2.177000	0.69029	0.455000	0.32223	GTC		0.627	HSPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391669.1			C	111784216	T	C	111784216	3	2	786	1	0	0	0	0	1	0	0	0	7422	1667	58	3	152	3	HSPB2	11	111784216	Missense_Mutation	SNP	T	TCGA-SX-A71V-01A-11D-A33Q-10	34406163	111784216	23222300	65	46705											
BCL9L	283149	hgsc.bcm.edu	37	11	118771955	118771955	+	Missense_Mutation	SNP	G	G	C			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr11:118771955G>C	ENST00000334801.3	-	6	3461	c.2497C>G	c.(2497-2499)Cag>Gag	p.Q833E	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	833	Met-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		AGCATCTTCTGCGGGCCGCCC	0.647																																																0													65	64	64					11																	118771955		2200	4295	6495	SO:0001583	missense	283149			AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.2497C>G	chr11.hg19:g.118771955G>C	ENSP00000335320:p.Gln833Glu		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP	ENST00000334801.3	hg19	CCDS8403.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.833281	0.50951	.	.	ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000525300;ENST00000392849;ENST00000431085	T	0.79653	-1.29	5.21	4.23	0.50019	.	0.000000	0.48286	D	0.000188	D	0.83843	0.5342	L	0.53249	1.67	0.33316	D	0.566665	P;P	0.49783	0.928;0.882	P;P	0.54856	0.762;0.582	D	0.88896	0.3349	10	0.66056	D	0.02	-11.7031	14.8728	0.70471	0.0:0.1441:0.8559:0.0	.	828;833	Q86UU0-2;Q86UU0	.;BCL9L_HUMAN	E	833;796;126;833;833	ENSP00000335320:Q833E	ENSP00000335320:Q833E	Q	-	1	0	BCL9L	118277165	1.000000	0.71417	0.982000	0.44146	0.880000	0.50808	6.524000	0.73791	2.415000	0.81967	0.655000	0.94253	CAG		0.647	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		C	118771955	G	C	118771955	3	2	786	1	0	0	0	0	1	0	0	0	1382	1328	46	4	2014	4	BCL9L	11	118771955	Missense_Mutation	SNP	G	TCGA-SX-A71V-01A-11D-A33Q-10	6987739	118771955	16234561	66	46706											
ARHGAP32	9743	hgsc.bcm.edu	37	11	129034246	129034246	+	Missense_Mutation	SNP	G	G	A			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr11:129034246G>A	ENST00000310343.9	-	2	192	c.193C>T	c.(193-195)Cgg>Tgg	p.R65W	ARHGAP32_ENST00000524655.1_5'Flank	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	65					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						CAATCAGGCCGCTCTCGAGGG	0.343																																																0													74	63	67					11																	129034246		1566	3578	5144	SO:0001583	missense	9743			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.193C>T	chr11.hg19:g.129034246G>A	ENSP00000310561:p.Arg65Trp		I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	hg19	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.692891	0.68271	.	.	ENSG00000134909	ENST00000310343;ENST00000525234	T;T	0.33216	1.42;1.42	5.02	5.02	0.67125	.	.	.	.	.	T	0.44222	0.1283	L	0.39898	1.24	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	T	0.35822	-0.9773	9	0.87932	D	0	.	11.3313	0.49477	0.0:0.0:0.8182:0.1818	.	65	A7KAX9	RHG32_HUMAN	W	65;25	ENSP00000310561:R65W;ENSP00000432303:R25W	ENSP00000310561:R65W	R	-	1	2	ARHGAP32	128539456	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.936000	0.40183	2.492000	0.84095	0.655000	0.94253	CGG		0.343	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		A	129034246	G	A	129034246	3	1	786	1	0	0	0	0	1	0	0	0	881	1086	38	1	6154	1	ARHGAP32	11	129034246	Missense_Mutation	SNP	G	TCGA-SX-A71V-01A-11D-A33Q-10	10262291	129034246	5972270	67	46707											
TMTC1	83857	hgsc.bcm.edu	37	12	29908774	29908774	+	Missense_Mutation	SNP	A	A	G			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr12:29908774A>G	ENST00000539277.1	-	4	657	c.599T>C	c.(598-600)gTg>gCg	p.V200A	TMTC1_ENST00000551659.1_Missense_Mutation_p.V200A|TMTC1_ENST00000256062.5_Missense_Mutation_p.V92A|TMTC1_ENST00000381224.2_Missense_Mutation_p.V92A|TMTC1_ENST00000552618.1_Missense_Mutation_p.V200A	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	200						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.V92A(1)		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)					GAAGGGAGACACCGTGGAAGG	0.468																																																1	Substitution - Missense(1)	lung(1)											95	88	90					12																	29908774		2203	4300	6503	SO:0001583	missense	83857				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.599T>C	chr12.hg19:g.29908774A>G	ENSP00000442046:p.Val200Ala		D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Missense_Mutation	SNP	ENST00000539277.1	hg19	CCDS53772.1	.	.	.	.	.	.	.	.	.	.	A	4.340	0.062471	0.08388	.	.	ENSG00000133687	ENST00000256062;ENST00000551659;ENST00000552618;ENST00000539277;ENST00000381224	T;T;T;T;T	0.68624	-0.34;-0.11;-0.34;-0.2;1.5	5.45	1.58	0.23477	.	0.896727	0.09708	N	0.766111	T	0.37237	0.0996	N	0.02357	-0.585	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.21518	-1.0243	9	.	.	.	0.1217	8.5489	0.33440	0.3291:0.0:0.6709:0.0	.	92;200	Q8IUR5-3;Q8IUR5	.;TMTC1_HUMAN	A	92;200;200;200;92	ENSP00000256062:V92A;ENSP00000448112:V200A;ENSP00000449043:V200A;ENSP00000442046:V200A;ENSP00000370622:V92A	.	V	-	2	0	TMTC1	29800041	0.698000	0.27777	0.516000	0.27786	0.771000	0.43674	2.015000	0.40961	0.266000	0.21894	-0.468000	0.05107	GTG		0.468	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	NM_031920		G	29908774	A	G	29908774	3	3	786	1	0	0	0	0	1	0	0	0	16265	159	6	3	2109	3	TMTC1	12	29908774	Missense_Mutation	SNP	A	TCGA-SX-A71V-01A-11D-A33Q-10		29908774	103943121	68	46708											
IFNG	3458	hgsc.bcm.edu	37	12	68552039	68552039	+	Splice_Site	SNP	T	T	G			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr12:68552039T>G	ENST00000229135.3	-	2	246	c.115A>C	c.(115-117)Aat>Cat	p.N39H	IFNG-AS1_ENST00000536914.1_RNA	NM_000619.2	NP_000610.2	P01579	IFNG_HUMAN	interferon, gamma	39					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|apoptotic process (GO:0006915)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell cycle arrest (GO:0007050)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to interleukin-18 (GO:0071351)|cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|extrinsic apoptotic signaling pathway (GO:0097191)|humoral immune response (GO:0006959)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-17 production (GO:0032700)|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 myelination (GO:0031642)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neutrophil apoptotic process (GO:0001781)|neutrophil chemotaxis (GO:0030593)|positive regulation of calcidiol 1-monooxygenase activity (GO:0060559)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity (GO:0060550)|positive regulation of fructose 1,6-bisphosphate metabolic process (GO:0060552)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-23 production (GO:0032747)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000309)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of vitamin D biosynthetic process (GO:0060557)|protein import into nucleus, translocation (GO:0000060)|regulation of insulin secretion (GO:0050796)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of the force of heart contraction (GO:0002026)|response to drug (GO:0042493)|response to virus (GO:0009615)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|interferon-gamma receptor binding (GO:0005133)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000829)	Glucosamine(DB01296)|Olsalazine(DB01250)	TGACCTGCATTCTAAAAAAAA	0.303																																																0													45	46	46					12																	68552039		2202	4299	6501	SO:0001630	splice_region_variant	3458				CCDS8980.1	12q14	2007-10-17			ENSG00000111537	ENSG00000111537		"Interferons"	5438	protein-coding gene	gene with protein product		147570					Standard	NM_000619		Approved		uc001stw.1	P01579	OTTHUMG00000169113	ENST00000229135.3:c.115-1A>C	chr12.hg19:g.68552039T>G			B5BU88|Q53ZV4	Missense_Mutation	SNP	ENST00000229135.3	hg19	CCDS8980.1	.	.	.	.	.	.	.	.	.	.	T	11.67	1.709060	0.30322	.	.	ENSG00000111537	ENST00000229135	T	0.52983	0.64	5.2	4.06	0.47325	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.171430	0.49916	D	0.000123	T	0.66247	0.2770	M	0.85710	2.77	0.42308	D	0.992201	D	0.69078	0.997	D	0.65987	0.94	T	0.68269	-0.5453	9	.	.	.	-28.2407	7.9531	0.30027	0.0:0.0934:0.0:0.9066	.	39	P01579	IFNG_HUMAN	H	39	ENSP00000229135:N39H	.	N	-	1	0	IFNG	66838306	1.000000	0.71417	0.924000	0.36721	0.002000	0.02628	2.660000	0.46749	0.932000	0.37266	-0.250000	0.11733	AAT		0.303	IFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402301.1		Missense_Mutation	G	68552039	T	G	68552039	5	3	786	1	0	0	0	0	0	0	1	0	7550	1797	62	5	397	5	IFNG	12	68552039	Splice_Site	SNP	T	TCGA-SX-A71V-01A-11D-A33Q-10	38643265	68552039	65299856	69	46709											
AKAP11	11215	hgsc.bcm.edu	37	13	42882690	42882690	+	Missense_Mutation	SNP	A	A	T			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr13:42882690A>T	ENST00000025301.2	+	9	5393	c.5218A>T	c.(5218-5220)Agt>Tgt	p.S1740C		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1740	Ser-rich.				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)		GTCCAATTTAAGTTTTGAAGA	0.388																																																0													116	108	110					13																	42882690		2203	4300	6503	SO:0001583	missense	11215			AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	369	protein-coding gene	gene with protein product	"AKAP 220", "A-kinase anchoring protein, 220kDa", "protein kinase A anchoring protein 11", "protein phosphatase 1, regulatory subunit 44"	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.5218A>T	chr13.hg19:g.42882690A>T	ENSP00000025301:p.Ser1740Cys		O75124|Q9NUK7	Missense_Mutation	SNP	ENST00000025301.2	hg19	CCDS9383.1	.	.	.	.	.	.	.	.	.	.	A	26.9	4.783681	0.90282	.	.	ENSG00000023516	ENST00000025301	T	0.20463	2.07	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.46718	0.1407	M	0.72894	2.215	0.58432	D	0.999994	D	0.89917	1.0	D	0.91635	0.999	T	0.43637	-0.9379	10	0.54805	T	0.06	.	15.7898	0.78345	1.0:0.0:0.0:0.0	.	1740	Q9UKA4	AKA11_HUMAN	C	1740	ENSP00000025301:S1740C	ENSP00000025301:S1740C	S	+	1	0	AKAP11	41780690	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.815000	0.91973	2.187000	0.69744	0.528000	0.53228	AGT		0.388	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2	NM_016248		T	42882690	A	T	42882690	3	4	786	1	0	0	0	0	1	0	0	0	447	72	3	5	5244	5	AKAP11	13	42882690	Missense_Mutation	SNP	A	TCGA-SX-A71V-01A-11D-A33Q-10		42882690	72287188	70	46710											
TBC1D4	9882	hgsc.bcm.edu	37	13	75869072	75869072	+	Silent	SNP	G	G	T			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr13:75869072G>T	ENST00000377636.3	-	18	3580	c.3234C>A	c.(3232-3234)atC>atA	p.I1078I	TBC1D4_ENST00000377625.2_Silent_p.I1015I|TBC1D4_ENST00000478591.1_5'UTR|TBC1D4_ENST00000431480.2_Silent_p.I1070I|TBC1D4_ENST00000425511.1_Silent_p.I242I	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	1078	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				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)		GACTGGGGCTGATTTCATTTT	0.403																																																0													82	81	81					13																	75869072		1916	4169	6085	SO:0001819	synonymous_variant	9882			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.3234C>A	chr13.hg19:g.75869072G>T			A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Silent	SNP	ENST00000377636.3	hg19	CCDS41901.1																																																																																				0.403	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1	NM_014832		T	75869072	G	T	75869072	2	4	786	1	0	0	0	0	0	0	0	1	15627	1280	45	4		4	TBC1D4	13	75869072	Silent	SNP	G	TCGA-SX-A71V-01A-11D-A33Q-10	32986382	75869072	39300806	71	46711											
OXA1L	9056	hgsc.bcm.edu	37	14	23240288	23240288	+	IGR	SNP	G	G	T			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr14:23240288G>T	ENST00000397532.3	-	0	2447				OXA1L_ENST00000358043.5_Missense_Mutation_p.R318L|OXA1L_ENST00000412791.1_Missense_Mutation_p.R334L|SLC7A7_ENST00000554061.1_5'Flank|OXA1L_ENST00000285848.5_Missense_Mutation_p.R394L|OXA1L_ENST00000604262.1_Missense_Mutation_p.R334L			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7						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)		TCCTGTCTCCGGATTCCAGCA	0.483																																																0													137	121	127					14																	23240288		2203	4300	6503	SO:0001628	intergenic_variant	5018			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		chr14.hg19:g.23240288G>T			B2RAU0|D3DS26|O95984|Q53XC1|Q86U07|Q9P2V5	Missense_Mutation	SNP	ENST00000397532.3	hg19	CCDS9574.1	.	.	.	.	.	.	.	.	.	.	G	19.08	3.756988	0.69648	.	.	ENSG00000155463	ENST00000285848;ENST00000412791;ENST00000358043	T;T;T	0.39592	1.07;1.15;1.07	5.71	4.63	0.57726	.	0.048408	0.85682	D	0.000000	T	0.64659	0.2618	M	0.80746	2.51	0.80722	D	1	D;D;D	0.69078	0.988;0.989;0.997	D;D;D	0.68483	0.913;0.958;0.95	T	0.69087	-0.5238	10	0.72032	D	0.01	-22.9462	14.5012	0.67722	0.085:0.0:0.915:0.0	.	334;334;394	E7EVY0;Q15070;Q2M1J6	.;OXA1L_HUMAN;.	L	394;334;318	ENSP00000285848:R394L;ENSP00000387601:R334L;ENSP00000350740:R318L	ENSP00000285848:R394L	R	+	2	0	OXA1L	22310128	1.000000	0.71417	1.000000	0.80357	0.426000	0.31534	6.148000	0.71788	2.677000	0.91161	0.609000	0.83330	CGG		0.483	SLC7A7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071636.3			T	23240288	G	T	23240288	1	4	786	0	1	0	0	0	0	0	0	0	11330	1116	39	4		4	OXA1L	14	23240288	IGR	SNP	G	TCGA-SX-A71V-01A-11D-A33Q-10		23240288	84109252	72	46712											
LRP10	26020	hgsc.bcm.edu	37	14	23344406	23344406	+	Missense_Mutation	SNP	G	G	A			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr14:23344406G>A	ENST00000359591.4	+	4	1049	c.358G>A	c.(358-360)Ggg>Agg	p.G120R	LRP10_ENST00000546834.1_Missense_Mutation_p.G120R	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	120	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				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)		CAGCTATGCTGGGGCCAGAGC	0.632																																																0													44	41	42					14																	23344406		2203	4300	6503	SO:0001583	missense	26020			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.358G>A	chr14.hg19:g.23344406G>A	ENSP00000352601:p.Gly120Arg		A8K4R5|D3DS31|O95882|Q14CK7|Q86T02|Q8NCZ4|Q9HC42|Q9UG33	Missense_Mutation	SNP	ENST00000359591.4	hg19	CCDS9578.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.04|17.04	3.287260|3.287260	0.59867|0.59867	.|.	.|.	ENSG00000197324|ENSG00000197324	ENST00000359591;ENST00000546834|ENST00000551466	T;T|.	0.28666|.	1.6;1.6|.	5.4|5.4	5.4|5.4	0.78164|0.78164	CUB (3);|.	0.122018|.	0.56097|.	D|.	0.000023|.	T|.	0.46367|.	0.1389|.	L|L	0.27053|0.27053	0.805|0.805	0.36299|0.36299	D|D	0.856899|0.856899	D|.	0.76494|.	0.999|.	D|.	0.66716|.	0.946|.	T|.	0.51585|.	-0.8687|.	10|.	0.24483|.	T|.	0.36|.	-20.6468|-20.6468	11.7283|11.7283	0.51722|0.51722	0.0:0.0:0.8237:0.1763|0.0:0.0:0.8237:0.1763	.|.	120|.	Q7Z4F1|.	LRP10_HUMAN|.	R|X	120|21	ENSP00000352601:G120R;ENSP00000447559:G120R|.	ENSP00000352601:G120R|.	G|W	+|+	1|2	0|0	LRP10|LRP10	22414246|22414246	0.992000|0.992000	0.36948|0.36948	0.992000|0.992000	0.48379|0.48379	0.961000|0.961000	0.63080|0.63080	2.281000|2.281000	0.43452|0.43452	2.547000|2.547000	0.85894|0.85894	0.563000|0.563000	0.77884|0.77884	GGG|TGG		0.632	LRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071663.3			A	23344406	G	A	23344406	3	1	786	1	0	0	0	0	1	0	0	0	8954	1348	47	2	372	2	LRP10	14	23344406	Missense_Mutation	SNP	G	TCGA-SX-A71V-01A-11D-A33Q-10	104118	23344406	84005134	73	46713											
LRP10	26020	hgsc.bcm.edu	37	14	23344686	23344686	+	Missense_Mutation	SNP	G	G	C			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr14:23344686G>C	ENST00000359591.4	+	5	1220	c.529G>C	c.(529-531)Gac>Cac	p.D177H	LRP10_ENST00000546834.1_Missense_Mutation_p.D177H	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	177					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)		TTGCAGCTCAGACCCCTTCCC	0.572																																																0													136	111	119					14																	23344686		2203	4300	6503	SO:0001583	missense	26020			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.529G>C	chr14.hg19:g.23344686G>C	ENSP00000352601:p.Asp177His		A8K4R5|D3DS31|O95882|Q14CK7|Q86T02|Q8NCZ4|Q9HC42|Q9UG33	Missense_Mutation	SNP	ENST00000359591.4	hg19	CCDS9578.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.854|9.854	1.194470|1.194470	0.22037|0.22037	.|.	.|.	ENSG00000197324|ENSG00000197324	ENST00000359591;ENST00000546834|ENST00000551466	D;D|.	0.94330|.	-3.2;-3.4|.	5.2|5.2	3.22|3.22	0.36961|0.36961	.|.	0.294917|.	0.36665|.	N|.	0.002472|.	T|T	0.34948|0.34948	0.0915|0.0915	N|N	0.25380|0.25380	0.74|0.74	0.32900|0.32900	D|D	0.51306|0.51306	B|.	0.09022|.	0.002|.	B|.	0.06405|.	0.002|.	T|T	0.43048|0.43048	-0.9415|-0.9415	10|5	0.32370|.	T|.	0.25|.	-15.981|-15.981	6.461|6.461	0.21956|0.21956	0.0985:0.359:0.5425:0.0|0.0985:0.359:0.5425:0.0	.|.	177|.	Q7Z4F1|.	LRP10_HUMAN|.	H|T	177|78	ENSP00000352601:D177H;ENSP00000447559:D177H|.	ENSP00000352601:D177H|.	D|R	+|+	1|2	0|0	LRP10|LRP10	22414526|22414526	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.857000|0.857000	0.48899|0.48899	1.419000|1.419000	0.34793|0.34793	1.424000|1.424000	0.47217|0.47217	0.655000|0.655000	0.94253|0.94253	GAC|AGA		0.572	LRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071663.3			C	23344686	G	C	23344686	3	2	786	1	0	0	0	0	1	0	0	0	8954	942	33	4	547	4	LRP10	14	23344686	Missense_Mutation	SNP	G	TCGA-SX-A71V-01A-11D-A33Q-10	280	23344686	84004854	74	46714											
SLC7A8	23428	hgsc.bcm.edu	37	14	23634563	23634563	+	Silent	SNP	G	G	A			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr14:23634563G>A	ENST00000316902.7	-	3	1164	c.439C>T	c.(439-441)Ctg>Ttg	p.L147L	SLC7A8_ENST00000469263.1_Silent_p.L147L	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8	147					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|metal ion homeostasis (GO:0055065)|neutral amino acid transport (GO:0015804)|organic cation transport (GO:0015695)|response to toxic substance (GO:0009636)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|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)|organic cation transmembrane transporter activity (GO:0015101)|peptide antigen binding (GO:0042605)|toxin transporter activity (GO:0019534)			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	AGCGGCTGCAGCACGTAGTTG	0.582																																																0													57	44	48					14																	23634563		2203	4300	6503	SO:0001819	synonymous_variant	23428			Y18483	CCDS9590.1, CCDS41924.1, CCDS58304.1, CCDS58305.1	14q11.2	2013-05-22	2011-07-12		ENSG00000092068	ENSG00000092068		"Solute carriers"	11066	protein-coding gene	gene with protein product		604235				10080183, 10391915	Standard	NM_001267036		Approved	LPI-PC1, LAT2	uc001wiz.4	Q9UHI5	OTTHUMG00000028720	ENST00000316902.7:c.439C>T	chr14.hg19:g.23634563G>A			B2R8Q4|B4DKT4|B4DTV6|D3DS46|F2Z2J4|Q86U05|Q9UKQ6|Q9UKQ7|Q9UKQ8|Q9Y445	Silent	SNP	ENST00000316902.7	hg19	CCDS9590.1																																																																																				0.582	SLC7A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071718.3			A	23634563	G	A	23634563	2	1	786	1	0	0	0	0	0	0	0	1	14710	962	34	2		2	SLC7A8	14	23634563	Silent	SNP	G	TCGA-SX-A71V-01A-11D-A33Q-10	289877	23634563	83714977	75	46715											
HOMEZ	57594	hgsc.bcm.edu	37	14	23744802	23744802	+	Silent	SNP	A	A	G	rs148005528		TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr14:23744802A>G	ENST00000357460.5	-	2	1799	c.1635T>C	c.(1633-1635)gaT>gaC	p.D545D	HOMEZ_ENST00000431326.2_Silent_p.D547D|HOMEZ_ENST00000561013.1_Silent_p.D547D	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	545					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		GTATGatcacatcatcatcat	0.443																																																0													30	32	31					14																	23744802		2079	4051	6130	SO:0001819	synonymous_variant	57594			AB037864	CCDS45085.1	14q11.2	2011-06-20	2007-02-15	2007-02-15		ENSG00000215271		"Homeoboxes / ZF class"	20164	protein-coding gene	gene with protein product		608119	"KIAA1443"	KIAA1443		12925734	Standard	NM_020834		Approved		uc001wja.2	Q8IX15		ENST00000357460.5:c.1635T>C	chr14.hg19:g.23744802A>G			A1L445|B4DZ80|F8WCA3|Q6P049|Q86XB6|Q9P2A5	Silent	SNP	ENST00000357460.5	hg19	CCDS45085.1																																																																																				0.443	HOMEZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000416939.2	NM_020834		G	23744802	A	G	23744802	2	3	786	1	0	0	0	0	0	0	0	1	7283	214	8	3		3	HOMEZ	14	23744802	Silent	SNP	A	TCGA-SX-A71V-01A-11D-A33Q-10	110239	23744802	83604738	76	46716											
RDH12	145226	hgsc.bcm.edu	37	14	68192868	68192868	+	Missense_Mutation	SNP	C	C	A			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr14:68192868C>A	ENST00000551171.1	+	6	768	c.444C>A	c.(442-444)caC>caA	p.H148Q	RDH12_ENST00000267502.3_Missense_Mutation_p.H148Q|RDH12_ENST00000539142.1_Missense_Mutation_p.H148Q	NM_152443.2	NP_689656.2	Q96NR8	RDH12_HUMAN	retinol dehydrogenase 12 (all-trans/9-cis/11-cis)	148					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)	GAGTCAACCACCTGGGTAAGT	0.443																																																0													114	114	114					14																	68192868		2203	4300	6503	SO:0001583	missense	145226			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.444C>A	chr14.hg19:g.68192868C>A	ENSP00000449079:p.His148Gln		B2RDA2|Q8TAW6	Missense_Mutation	SNP	ENST00000551171.1	hg19	CCDS9787.1	.	.	.	.	.	.	.	.	.	.	C	17.57	3.422880	0.62733	.	.	ENSG00000139988	ENST00000551171;ENST00000267502;ENST00000539142	D;D;D	0.87256	-2.23;-2.23;-2.23	6.04	3.28	0.37604	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.92954	0.7758	M	0.89214	3.015	0.53005	D	0.999962	D	0.67145	0.996	D	0.74023	0.982	D	0.92340	0.5881	10	0.87932	D	0	.	8.3376	0.32224	0.0:0.6449:0.0:0.3551	.	148	Q96NR8	RDH12_HUMAN	Q	148	ENSP00000449079:H148Q;ENSP00000267502:H148Q;ENSP00000438715:H148Q	ENSP00000267502:H148Q	H	+	3	2	RDH12	67262621	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	0.886000	0.28241	0.914000	0.36822	-0.217000	0.12591	CAC		0.443	RDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406918.1			A	68192868	C	A	68192868	3	1	786	1	0	0	0	0	1	0	0	0	13197	506	18	4	458	4	RDH12	14	68192868	Missense_Mutation	SNP	C	TCGA-SX-A71V-01A-11D-A33Q-10	44448066	68192868	39156672	77	46717											
PPP2R5C	5527	hgsc.bcm.edu	37	14	102368158	102368158	+	Missense_Mutation	SNP	G	G	C			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr14:102368158G>C	ENST00000334743.5	+	9	1003	c.955G>C	c.(955-957)Gaa>Caa	p.E319Q	PPP2R5C_ENST00000422945.2_Missense_Mutation_p.E350Q|PPP2R5C_ENST00000557095.1_Missense_Mutation_p.E319Q|PPP2R5C_ENST00000445439.3_Missense_Mutation_p.E319Q|PPP2R5C_ENST00000350249.3_Missense_Mutation_p.E319Q|PPP2R5C_ENST00000328724.5_Missense_Mutation_p.E374Q	NM_002719.3	NP_002710.2	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma	319					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						TGAACCATCAGAATTTGTGAA	0.443																																																0													94	95	95					14																	102368158		2203	4300	6503	SO:0001583	missense	5527			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.955G>C	chr14.hg19:g.102368158G>C	ENSP00000333905:p.Glu319Gln		B4DYJ8|B5BUA5|F5GWP3|Q14391|Q15060|Q15174|Q6ZN33	Missense_Mutation	SNP	ENST00000334743.5	hg19	CCDS9964.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.523143	0.44866	.	.	ENSG00000078304	ENST00000422945;ENST00000328724;ENST00000557268;ENST00000350249;ENST00000334756;ENST00000445439;ENST00000334743;ENST00000557095;ENST00000557716	T;T;T;T;T	0.51071	0.72;0.78;0.72;0.82;0.73	5.3	5.3	0.74995	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.66954	0.2842	M	0.69358	2.11	0.80722	D	1	P;P;D;P;B;P	0.60575	0.826;0.531;0.988;0.856;0.049;0.847	B;B;D;P;B;D	0.70716	0.422;0.294;0.97;0.557;0.216;0.923	T	0.63129	-0.6706	10	0.30854	T	0.27	-11.4511	18.9542	0.92653	0.0:0.0:1.0:0.0	.	350;217;319;319;319;374	F5GWP3;E9PHN5;Q13362-3;Q13362;Q13362-2;Q6ZN33	.;.;.;2A5G_HUMAN;.;.	Q	350;374;348;319;217;319;319;319;115	ENSP00000412324:E350Q;ENSP00000329009:E374Q;ENSP00000450931:E348Q;ENSP00000262239:E319Q;ENSP00000333905:E319Q	ENSP00000329009:E374Q	E	+	1	0	PPP2R5C	101437911	1.000000	0.71417	0.142000	0.22268	0.959000	0.62525	7.799000	0.85936	2.490000	0.84030	0.655000	0.94253	GAA		0.443	PPP2R5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414373.2	NM_002719		C	102368158	G	C	102368158	3	2	786	1	0	0	0	0	1	0	0	0	12399	943	33	4	1358	4	PPP2R5C	14	102368158	Missense_Mutation	SNP	G	TCGA-SX-A71V-01A-11D-A33Q-10	34175290	102368158	4981382	78	46718											
TRPM1	4308	hgsc.bcm.edu	37	15	31294200	31294200	+	Frame_Shift_Del	DEL	G	G	-			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr15:31294200delG	ENST00000256552.6	-	28	4850	c.4703delC	c.(4702-4704)ccafs	p.P1568fs	TRPM1_ENST00000542188.1_Frame_Shift_Del_p.P1585fs|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000397795.2_Frame_Shift_Del_p.P1546fs	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)		CCTGAGAGATGGGAATCCCAA	0.433																																																0													205	187	193					15																	31294200		1890	4112	6002	SO:0001589	frameshift_variant	4308			AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"Voltage-gated ion channels / Transient receptor potential cation channels"	7146	protein-coding gene	gene with protein product		603576	"melastatin 1"	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.4703delC	chr15.hg19:g.31294200delG	ENSP00000256552:p.Pro1568fs			Frame_Shift_Del	DEL	ENST00000256552.6	hg19	CCDS58346.1																																																																																				0.433	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		-	31294200	G	-	31294200	7	5	786	1	0	1	0	1	0	0	0	0	16590	1348	47	0	178	0	TRPM1	15	31294200	Frame_Shift_Del	DEL	G	TCGA-SX-A71V-01A-11D-A33Q-10		31294200	71237192	79	46719											
GATM	2628	hgsc.bcm.edu	37	15	45668863	45668863	+	Nonsense_Mutation	SNP	A	A	C			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr15:45668863A>C	ENST00000396659.3	-	2	563	c.224T>G	c.(223-225)tTa>tGa	p.L75*	GATM_ENST00000558336.1_Nonsense_Mutation_p.L75*|GATM_ENST00000458245.5_5'Flank	NM_001482.2	NP_001473.1	P50440	GATM_HUMAN	glycine amidinotransferase (L-arginine:glycine amidinotransferase)	75					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)	CACTTCCTCTAAGGGGTCCCA	0.542																																																0													135	127	129					15																	45668863		2198	4298	6496	SO:0001587	stop_gained	2628			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.224T>G	chr15.hg19:g.45668863A>C	ENSP00000379895:p.Leu75*		B4DH99|B4DPI3|Q53EQ4	Nonsense_Mutation	SNP	ENST00000396659.3	hg19	CCDS10122.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.405479	0.83230	.	.	ENSG00000171766	ENST00000396659	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5014	14.1188	0.65172	1.0:0.0:0.0:0.0	.	.	.	.	X	75	.	ENSP00000379895:L75X	L	-	2	0	GATM	43456155	1.000000	0.71417	0.962000	0.40283	0.993000	0.82548	8.884000	0.92432	2.210000	0.71456	0.533000	0.62120	TTA		0.542	GATM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254220.2	NM_001482		C	45668863	A	C	45668863	4	2	786	1	0	0	0	0	0	1	0	0	6265	372	13	5	1079	5	GATM	15	45668863	Nonsense_Mutation	SNP	A	TCGA-SX-A71V-01A-11D-A33Q-10	14374663	45668863	56862529	80	46720											
FGF7	2252	hgsc.bcm.edu	37	15	49716529	49716529	+	Missense_Mutation	SNP	C	C	G			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr15:49716529C>G	ENST00000267843.4	+	2	646	c.35C>G	c.(34-36)aCt>aGt	p.T12S	FAM227B_ENST00000561064.1_Intron|FAM227B_ENST00000299338.6_Intron|FGF7_ENST00000560270.1_Missense_Mutation_p.T12S	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN	fibroblast growth factor 7	12					actin cytoskeleton reorganization (GO:0031532)|branching involved in salivary gland morphogenesis (GO:0060445)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle morphogenesis (GO:0031069)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mesenchymal cell proliferation (GO:0010463)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|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 keratinocyte migration (GO:0051549)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein localization to cell surface (GO:0034394)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|response to wounding (GO:0009611)|secretion by lung epithelial cell involved in lung growth (GO:0061033)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)		ATCCTGCCAACTTTGCTCTAC	0.383																																																0													192	168	176					15																	49716529		2196	4295	6491	SO:0001583	missense	2252			M60828	CCDS10131.1	15q21.2	2014-01-30	2010-08-18		ENSG00000140285	ENSG00000140285		"Endogenous ligands"	3685	protein-coding gene	gene with protein product	"keratinocyte growth factor"	148180	"fibroblast growth factor 7 (keratinocyte growth factor)"			7749227, 1409637	Standard	NM_002009		Approved	KGF	uc001zxn.3	P21781	OTTHUMG00000131517	ENST00000267843.4:c.35C>G	chr15.hg19:g.49716529C>G	ENSP00000267843:p.Thr12Ser		H0YNY5|Q6FGV5|Q96FG5	Missense_Mutation	SNP	ENST00000267843.4	hg19	CCDS10131.1	.	.	.	.	.	.	.	.	.	.	C	7.769	0.706993	0.15239	.	.	ENSG00000140285	ENST00000267843	T	0.23348	1.91	5.7	3.72	0.42706	.	0.719107	0.14365	N	0.324213	T	0.17450	0.0419	.	.	.	0.31782	N	0.630781	B	0.10296	0.003	B	0.06405	0.002	T	0.10894	-1.0610	9	0.29301	T	0.29	.	9.8033	0.40777	0.0:0.6371:0.2844:0.0784	.	12	P21781	FGF7_HUMAN	S	12	ENSP00000267843:T12S	ENSP00000267843:T12S	T	+	2	0	FGF7	47503821	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.034000	0.41145	1.425000	0.47237	0.655000	0.94253	ACT		0.383	FGF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254374.3	NM_002009		G	49716529	C	G	49716529	3	3	786	1	0	0	0	0	1	0	0	0	5859	565	20	4	37	4	FGF7	15	49716529	Missense_Mutation	SNP	C	TCGA-SX-A71V-01A-11D-A33Q-10	4047666	49716529	52814863	81	46721											
SETD1A	9739	hgsc.bcm.edu	37	16	30982956	30982956	+	Missense_Mutation	SNP	G	G	A			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr16:30982956G>A	ENST00000262519.8	+	13	3960	c.3274G>A	c.(3274-3276)Gtg>Atg	p.V1092M		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1092	Pro-rich. {ECO:0000255}.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						GCCAGCACCTGTGGAGGTGCC	0.662																																																0													35	38	37					16																	30982956		2197	4299	6496	SO:0001583	missense	9739			AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"Chromatin-modifying enzymes / K-methyltransferases", "RNA binding motif (RRM) containing"	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.3274G>A	chr16.hg19:g.30982956G>A	ENSP00000262519:p.Val1092Met		A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	SNP	ENST00000262519.8	hg19	CCDS32435.1	.	.	.	.	.	.	.	.	.	.	G	10.45	1.353357	0.24512	.	.	ENSG00000099381	ENST00000262519	D	0.94897	-3.55	5.81	5.81	0.92471	.	0.788898	0.11531	N	0.554670	D	0.93262	0.7853	L	0.46157	1.445	0.20821	N	0.999847	B	0.22480	0.07	B	0.31016	0.123	D	0.86220	0.1630	10	0.51188	T	0.08	.	15.5798	0.76425	0.0:0.0:1.0:0.0	.	1092	O15047	SET1A_HUMAN	M	1092	ENSP00000262519:V1092M	ENSP00000262519:V1092M	V	+	1	0	SETD1A	30890457	0.274000	0.24191	0.181000	0.23098	0.366000	0.29705	1.028000	0.30128	2.752000	0.94435	0.467000	0.42956	GTG		0.662	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		A	30982956	G	A	30982956	3	1	786	1	0	0	0	0	1	0	0	0	14136	1377	48	2	3320	2	SETD1A	16	30982956	Missense_Mutation	SNP	G	TCGA-SX-A71V-01A-11D-A33Q-10		30982956	59371797	82	46722											
NKD1	85407	hgsc.bcm.edu	37	16	50583410	50583410	+	Missense_Mutation	SNP	G	G	A			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr16:50583410G>A	ENST00000268459.3	+	3	360	c.136G>A	c.(136-138)Ggt>Agt	p.G46S	NKD1_ENST00000564336.1_3'UTR|RP11-401P9.1_ENST00000569940.2_RNA	NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	46					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)		CTGCCCGGGCGGTGTCTCGGG	0.687																																																0													24	26	25					16																	50583410		2195	4298	6493	SO:0001583	missense	85407			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.136G>A	chr16.hg19:g.50583410G>A	ENSP00000268459:p.Gly46Ser		B2RC39|Q8WZ08	Missense_Mutation	SNP	ENST00000268459.3	hg19	CCDS10743.1	.	.	.	.	.	.	.	.	.	.	G	6.267	0.417444	0.11870	.	.	ENSG00000140807	ENST00000268459	T	0.62232	0.04	4.15	1.98	0.26296	.	0.774566	0.12349	N	0.476745	T	0.28699	0.0711	N	0.02011	-0.69	0.09310	N	1	B	0.14438	0.01	B	0.12837	0.008	T	0.23404	-1.0189	10	0.06494	T	0.89	-5.2334	8.1969	0.31402	0.2365:0.0:0.7635:0.0	.	46	Q969G9	NKD1_HUMAN	S	46	ENSP00000268459:G46S	ENSP00000268459:G46S	G	+	1	0	NKD1	49140911	0.996000	0.38824	0.078000	0.20375	0.659000	0.38960	1.536000	0.36072	0.941000	0.37499	0.313000	0.20887	GGT		0.687	NKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256873.1			A	50583410	G	A	50583410	3	1	786	1	0	0	0	0	1	0	0	0	10443	1116	39	1	146	1	NKD1	16	50583410	Missense_Mutation	SNP	G	TCGA-SX-A71V-01A-11D-A33Q-10	19600454	50583410	39771343	83	46723											
DDX28	55794	hgsc.bcm.edu	37	16	68057034	68057034	+	Silent	SNP	G	G	A			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr16:68057034G>A	ENST00000332395.5	-	1	736	c.72C>T	c.(70-72)ctC>ctT	p.L24L	DUS2_ENST00000432752.1_5'Flank|DUS2_ENST00000565263.1_5'UTR|DUS2_ENST00000358896.6_5'Flank	NM_018380.3	NP_060850.2	Q9NUL7	DDX28_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 28	24						mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)		TGCGGACCGTGAGGCCCCGTC	0.672																																																0													15	17	16					16																	68057034		2175	4253	6428	SO:0001819	synonymous_variant	55794			AF329821	CCDS10858.1	16q22.1-q22.3	2008-02-05	2003-06-13		ENSG00000182810	ENSG00000182810		"DEAD-boxes"	17330	protein-coding gene	gene with protein product		607618	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 28"			10493829, 11350955	Standard	NM_018380		Approved	MDDX28, FLJ11282	uc002evh.2	Q9NUL7	OTTHUMG00000137549	ENST00000332395.5:c.72C>T	chr16.hg19:g.68057034G>A				Silent	SNP	ENST00000332395.5	hg19	CCDS10858.1																																																																																				0.672	DDX28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268883.1	NM_018380		A	68057034	G	A	68057034	2	1	786	1	0	0	0	0	0	0	0	1	4357	1277	45	2		2	DDX28	16	68057034	Silent	SNP	G	TCGA-SX-A71V-01A-11D-A33Q-10	17473624	68057034	22297719	84	46724											
WWP2	11060	hgsc.bcm.edu	37	16	69820957	69820957	+	Missense_Mutation	SNP	T	T	A			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr16:69820957T>A	ENST00000359154.2	+	2	145	c.44T>A	c.(43-45)tTt>tAt	p.F15Y	WWP2_ENST00000569174.1_Missense_Mutation_p.F15Y|WWP2_ENST00000448661.1_Missense_Mutation_p.F15Y|SNORA62_ENST00000516634.1_RNA|WWP2_ENST00000356003.2_Missense_Mutation_p.F15Y	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	15					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						GCCCTGCCTTTTGAGAAGTCT	0.468																																																0													118	98	105					16																	69820957		2198	4300	6498	SO:0001583	missense	11060			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.44T>A	chr16.hg19:g.69820957T>A	ENSP00000352069:p.Phe15Tyr		A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Missense_Mutation	SNP	ENST00000359154.2	hg19	CCDS10885.1	.	.	.	.	.	.	.	.	.	.	T	9.974	1.226372	0.22542	.	.	ENSG00000198373	ENST00000359154;ENST00000448661;ENST00000356003	T;T;T	0.29397	1.57;1.57;1.57	5.29	4.19	0.49359	C2 calcium/lipid-binding domain, CaLB (1);	0.560166	0.20039	N	0.100552	T	0.14527	0.0351	N	0.14661	0.345	0.80722	D	1	B	0.29909	0.261	B	0.25759	0.063	T	0.10019	-1.0648	9	.	.	.	.	5.4691	0.16660	0.0:0.0909:0.1754:0.7337	.	15	O00308	WWP2_HUMAN	Y	15	ENSP00000352069:F15Y;ENSP00000396871:F15Y;ENSP00000348283:F15Y	.	F	+	2	0	WWP2	68378458	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.190000	0.42630	0.859000	0.35456	0.460000	0.39030	TTT		0.468	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268954.1	NM_007014		A	69820957	T	A	69820957	3	1	786	1	0	0	0	0	1	0	0	0	17421	1841	64	5	46	5	WWP2	16	69820957	Missense_Mutation	SNP	T	TCGA-SX-A71V-01A-11D-A33Q-10	1763923	69820957	20533796	85	46725											
MINK1	100130311	hgsc.bcm.edu	37	17	4799846	4799846	+	5'Flank	SNP	T	T	C	rs372981603		TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr17:4799846T>C	ENST00000381365.3	+	0	0				C17orf107_ENST00000521575.1_5'Flank|MINK1_ENST00000453408.3_Silent_p.D1226D|MINK1_ENST00000355280.6_Silent_p.D1246D|MINK1_ENST00000347992.7_Silent_p.D1217D	NM_001145536.1	NP_001139008.1	Q6ZR85	CQ107_HUMAN	chromosome 17 open reading frame 107											endometrium(2)	2						TCATTAAGGATGTGGTGCTGC	0.622																																																0													94	101	99					17																	4799846		2183	4270	6453	SO:0001631	upstream_gene_variant	50488			AK128415	CCDS45591.1	17p13.2	2009-09-30			ENSG00000205710	ENSG00000205710			37238	protein-coding gene	gene with protein product							Standard	NM_001145536		Approved		uc002fzl.3	Q6ZR85	OTTHUMG00000164838		chr17.hg19:g.4799846T>C	Exception_encountered			Silent	SNP	ENST00000381365.3	hg19	CCDS45591.1																																																																																				0.622	C17orf107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380556.1	NM_001145536		C	4799846	T	C	4799846	1	2	786	0	1	0	0	0	0	0	0	0	9589	1461	51	3		3	MINK1	17	4799846	5'Flank	SNP	T	TCGA-SX-A71V-01A-11D-A33Q-10		4799846	76395364	86	46726											
COX10	1352	hgsc.bcm.edu	37	17	14110151	14110151	+	Missense_Mutation	SNP	T	T	A			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr17:14110151T>A	ENST00000261643.3	+	7	1030	c.953T>A	c.(952-954)cTc>cAc	p.L318H	COX10_ENST00000537334.1_Missense_Mutation_p.L101H|COX10_ENST00000536205.1_Missense_Mutation_p.L126H	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	318					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)		GGAGGAATCCTCTACTCCTGG	0.587																																																0													61	68	66					17																	14110151		2203	4300	6503	SO:0001583	missense	1352			U09466	CCDS11166.1	17p12	2013-05-24	2012-10-15		ENSG00000006695	ENSG00000006695		"Mitochondrial respiratory chain complex assembly factors"	2260	protein-coding gene	gene with protein product	"heme A: farnesyltransferase", "protoheme IX farnesyltransferase, mitochondrial", "heme O synthase"	602125	"COX10 (yeast) homolog, cytochrome c oxidase assembly protein (heme A: farnesyltransferase)", "COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast)"			9177788, 12928484	Standard	NM_001303		Approved		uc002gof.4	Q12887	OTTHUMG00000058814	ENST00000261643.3:c.953T>A	chr17.hg19:g.14110151T>A	ENSP00000261643:p.Leu318His		B2R6U5|B4DJ50|O15334|Q969F7	Missense_Mutation	SNP	ENST00000261643.3	hg19	CCDS11166.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.647456	0.87958	.	.	ENSG00000006695	ENST00000261643;ENST00000536205;ENST00000537334	D;D;D	0.93906	-3.31;-3.31;-3.31	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.97829	0.9287	H	0.97158	3.95	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.99257	1.0889	10	0.87932	D	0	-10.0897	14.9423	0.71003	0.0:0.0:0.0:1.0	.	126;318	B4DJ50;Q12887	.;COX10_HUMAN	H	318;126;101	ENSP00000261643:L318H;ENSP00000439494:L126H;ENSP00000443354:L101H	ENSP00000261643:L318H	L	+	2	0	COX10	14050876	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.577000	0.82486	2.005000	0.58758	0.533000	0.62120	CTC		0.587	COX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130003.1	NM_001303		A	14110151	T	A	14110151	3	1	786	1	0	0	0	0	1	0	0	0	3764	1551	54	5	979	5	COX10	17	14110151	Missense_Mutation	SNP	T	TCGA-SX-A71V-01A-11D-A33Q-10	9310305	14110151	67085059	87	46727											
FLII	2314	hgsc.bcm.edu	37	17	18151250	18151250	+	Missense_Mutation	SNP	A	A	G			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr17:18151250A>G	ENST00000327031.4	-	19	2513	c.2288T>C	c.(2287-2289)aTg>aCg	p.M763T	FLII_ENST00000379450.4_Missense_Mutation_p.M677T|FLII_ENST00000579294.1_Missense_Mutation_p.M752T|FLII_ENST00000545457.2_Missense_Mutation_p.M708T|FLII_ENST00000578558.1_Intron	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	763	Interaction with ACTL6A.				multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					TACCAGCCGCATTCTTGGCAT	0.622																																																0													117	106	110					17																	18151250		2203	4300	6503	SO:0001583	missense	2314			U01184	CCDS11192.1, CCDS58521.1, CCDS58522.1	17p11.2	2008-07-18	2001-11-28		ENSG00000177731	ENSG00000177731			3750	protein-coding gene	gene with protein product		600362	"flightless I (Drosophila) homolog"			7825574	Standard	NM_002018		Approved	FLI, FLIL, Fli1, MGC39265	uc002gsr.2	Q13045	OTTHUMG00000059389	ENST00000327031.4:c.2288T>C	chr17.hg19:g.18151250A>G	ENSP00000324573:p.Met763Thr		B4DIL0|F5H407|J3QLG3	Missense_Mutation	SNP	ENST00000327031.4	hg19	CCDS11192.1	.	.	.	.	.	.	.	.	.	.	A	13.33	2.204846	0.38905	.	.	ENSG00000177731	ENST00000327031;ENST00000379450	T;T	0.53640	0.61;0.61	5.21	5.21	0.72293	Gelsolin domain (1);	0.136494	0.64402	D	0.000003	T	0.37625	0.1010	N	0.22421	0.69	0.47009	D	0.999288	B;B;B;B	0.30563	0.189;0.189;0.02;0.285	B;B;B;B	0.33846	0.113;0.113;0.103;0.171	T	0.22521	-1.0214	10	0.36615	T	0.2	-36.048	15.0785	0.72096	1.0:0.0:0.0:0.0	.	677;677;763;732	E7EPM0;B4DIL0;Q13045;B4DIX0	.;.;FLII_HUMAN;.	T	763;677	ENSP00000324573:M763T;ENSP00000368763:M677T	ENSP00000324573:M763T	M	-	2	0	FLII	18091975	1.000000	0.71417	0.990000	0.47175	0.800000	0.45204	6.897000	0.75671	1.971000	0.57363	0.379000	0.24179	ATG		0.622	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132032.2	NM_002018		G	18151250	A	G	18151250	3	3	786	1	0	0	0	0	1	0	0	0	5927	217	8	3	1569	3	FLII	17	18151250	Missense_Mutation	SNP	A	TCGA-SX-A71V-01A-11D-A33Q-10	4041099	18151250	63043960	88	46728											
HSD17B1	3292	hgsc.bcm.edu	37	17	40706580	40706580	+	Frame_Shift_Del	DEL	A	A	-			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr17:40706580delA	ENST00000585807.1	+	5	4417	c.697delA	c.(697-699)aacfs	p.N233fs	RP11-400F19.8_ENST00000585572.1_RNA|HSD17B1_ENST00000225929.5_Frame_Shift_Del_p.N234fs|RP11-400F19.6_ENST00000590513.1_RNA	NM_000413.2	NP_000404.2	P14061	DHB1_HUMAN	hydroxysteroid (17-beta) dehydrogenase 1	233					bone development (GO:0060348)|cellular response to metal ion (GO:0071248)|estrogen biosynthetic process (GO:0006703)|estrogen metabolic process (GO:0008210)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|estradiol 17-beta-dehydrogenase activity (GO:0004303)			NS(1)|endometrium(1)|kidney(1)|lung(2)	5		all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261)		BRCA - Breast invasive adenocarcinoma(366;0.129)	Equilin(DB02187)	GGCGGCGCAGAACCCTGAGGA	0.692																																																0													47	37	40					17																	40706580		2203	4300	6503	SO:0001589	frameshift_variant	3292				CCDS11428.1	17q11-q21	2011-09-14					1.1.1.62	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	5210	protein-coding gene	gene with protein product	"Estradiol 17-beta-dehydrogenase-1", "short chain dehydrogenase/reductase family 28CE, member 1"	109684		EDHB17, EDH17B2		2330005, 19027726	Standard	NM_000413		Approved	HSD17, MGC138140, SDR28C1	uc002hzw.3	P14061		ENST00000585807.1:c.697delA	chr17.hg19:g.40706580delA	ENSP00000466799:p.Asn233fs		B3KXS1|Q2M2L8	Frame_Shift_Del	DEL	ENST00000585807.1	hg19	CCDS11428.1																																																																																				0.692	HSD17B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450392.1	NM_000413		-	40706580	A	-	40706580	7	5	786	1	0	1	0	1	0	0	0	0	7380	246	9	0	715	0	HSD17B1	17	40706580	Frame_Shift_Del	DEL	A	TCGA-SX-A71V-01A-11D-A33Q-10	22555330	40706580	40488630	89	46729											
TRIM65	201292	hgsc.bcm.edu	37	17	73887171	73887171	+	Missense_Mutation	SNP	T	T	A			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr17:73887171T>A	ENST00000269383.3	-	6	1308	c.1243A>T	c.(1243-1245)Aac>Tac	p.N415Y		NM_001256124.1|NM_173547.3	NP_001243053.1|NP_775818.2	Q6PJ69	TRI65_HUMAN	tripartite motif containing 65	415	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12			Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGGCCAATGTTGTCTGTGTGG	0.697																																																0													30	31	30					17																	73887171		2202	4296	6498	SO:0001583	missense	201292			BC006138	CCDS11732.1	17q25.1	2013-01-09	2011-01-25		ENSG00000141569	ENSG00000141569		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	27316	protein-coding gene	gene with protein product			"tripartite motif-containing 65"			12477932	Standard	NM_173547		Approved		uc002jpx.4	Q6PJ69	OTTHUMG00000132127	ENST00000269383.3:c.1243A>T	chr17.hg19:g.73887171T>A	ENSP00000269383:p.Asn415Tyr		Q4G0F0|Q6DKJ6|Q9BRP6	Missense_Mutation	SNP	ENST00000269383.3	hg19	CCDS11732.1	.	.	.	.	.	.	.	.	.	.	T	16.83	3.230594	0.58777	.	.	ENSG00000141569	ENST00000269383	T	0.68331	-0.32	5.33	5.33	0.75918	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.56097	D	0.000025	T	0.57066	0.2028	L	0.28458	0.855	0.37276	D	0.907619	B	0.28400	0.21	B	0.38921	0.285	T	0.54330	-0.8310	10	0.02654	T	1	.	15.2933	0.73882	0.0:0.0:0.0:1.0	.	415	Q6PJ69	TRI65_HUMAN	Y	415	ENSP00000269383:N415Y	ENSP00000269383:N415Y	N	-	1	0	TRIM65	71398766	1.000000	0.71417	1.000000	0.80357	0.466000	0.32739	3.892000	0.56235	2.030000	0.59900	0.448000	0.29417	AAC		0.697	TRIM65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255170.2	NM_173547		A	73887171	T	A	73887171	3	1	786	1	0	0	0	0	1	0	0	0	16544	1812	63	5	314	5	TRIM65	17	73887171	Missense_Mutation	SNP	T	TCGA-SX-A71V-01A-11D-A33Q-10	33180591	73887171	7308039	90	46730											
USP14	9097	hgsc.bcm.edu	37	18	192871	192871	+	Frame_Shift_Del	DEL	A	A	-			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr18:192871delA	ENST00000261601.7	+	6	525	c.434delA	c.(433-435)gaafs	p.E145fs	USP14_ENST00000383589.2_Frame_Shift_Del_p.E99fs|USP14_ENST00000582707.1_Frame_Shift_Del_p.E110fs|USP14_ENST00000400266.3_Frame_Shift_Del_p.E134fs	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)	145	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)				GCTTCAGGGGAAATGGCTTCA	0.378																																																0													179	176	177					18																	192871		2203	4300	6503	SO:0001589	frameshift_variant	9097			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.434delA	chr18.hg19:g.192871delA	ENSP00000261601:p.Glu145fs		J3QRZ5|Q53XY5	Frame_Shift_Del	DEL	ENST00000261601.7	hg19	CCDS32780.1																																																																																				0.378	USP14-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440305.3	NM_005151		-	192871	A	-	192871	7	5	786	1	0	1	0	1	0	0	0	0	17050	246	9	0	456	0	USP14	18	192871	Frame_Shift_Del	DEL	A	TCGA-SX-A71V-01A-11D-A33Q-10		192871	77884377	91	46731											
CTAGE1	64693	hgsc.bcm.edu	37	18	19995661	19995661	+	5'Flank	DEL	G	G	-			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr18:19995661delG	ENST00000525417.1	-	0	0				CTAGE1_ENST00000391403.2_Frame_Shift_Del_p.S705fs			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)					ATCCCTTGGAGAAAAATAATC	0.493																																																0													54	60	58					18																	19995661		2125	4239	6364	SO:0001631	upstream_gene_variant	64693			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			chr18.hg19:g.19995661delG	Exception_encountered		B0YIZ3	Frame_Shift_Del	DEL	ENST00000525417.1	hg19																																																																																					0.493	CTAGE1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000386767.1	NM_022663, NM_172241		-	19995661	G	-	19995661	6	5	786	0	1	1	0	1	0	0	0	0	3994	942	33	0		0	CTAGE1	18	19995661	5'Flank	DEL	G	TCGA-SX-A71V-01A-11D-A33Q-10	19802790	19995661	58081587	92	46732											
MCART2	147407	hgsc.bcm.edu	37	18	29340393	29340393	+	Nonsense_Mutation	SNP	G	G	A			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr18:29340393G>A	ENST00000579441.2	-	1	231	c.232C>T	c.(232-234)Cga>Tga	p.R78*	SLC25A52_ENST00000269205.5_Nonsense_Mutation_p.R88*			Q3SY17	S2552_HUMAN	solute carrier family 25, member 52	78					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)											TACAAATTTCGAAATCCATCC	0.463																																																0													120	107	112					18																	29340393		2203	4300	6503	SO:0001587	stop_gained	147407				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.232C>T	chr18.hg19:g.29340393G>A	ENSP00000462754:p.Arg78*			Nonsense_Mutation	SNP	ENST00000579441.2	hg19		.	.	.	.	.	.	.	.	.	.	G	36	5.905485	0.97087	.	.	ENSG00000141437	ENST00000269205;ENST00000535708	.	.	.	1.03	1.03	0.20045	.	0.259609	0.30538	N	0.009404	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	7.9599	0.30066	0.0:0.0:1.0:0.0	.	.	.	.	X	88;78	.	ENSP00000372612:R88X	R	-	1	2	MCART2	27594391	0.991000	0.36638	0.295000	0.24960	0.834000	0.47266	0.956000	0.29202	0.877000	0.35895	0.505000	0.49811	CGA		0.463	SLC25A52-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_084000		A	29340393	G	A	29340393	4	1	786	1	0	0	0	0	0	1	0	0	9372	1066	37	1	665	1	MCART2	18	29340393	Nonsense_Mutation	SNP	G	TCGA-SX-A71V-01A-11D-A33Q-10	9344732	29340393	48736855	93	46733											
CACNA1A	773	hgsc.bcm.edu	37	19	13372413	13372413	+	Silent	SNP	G	G	A			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr19:13372413G>A	ENST00000360228.5	-	26	4100	c.4101C>T	c.(4099-4101)gaC>gaT	p.D1367D	CACNA1A_ENST00000573710.2_Silent_p.D1368D	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1368					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	TCACCACACAGTCAAACACAG	0.522																																																0													48	46	47					19																	13372413		2040	4201	6241	SO:0001819	synonymous_variant	773			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.4101C>T	chr19.hg19:g.13372413G>A			J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Silent	SNP	ENST00000360228.5	hg19	CCDS45998.1																																																																																				0.522	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		A	13372413	G	A	13372413	2	1	786	1	0	0	0	0	0	0	0	1	2540	1020	36	2		2	CACNA1A	19	13372413	Silent	SNP	G	TCGA-SX-A71V-01A-11D-A33Q-10		13372413	45756570	94	46734											
ARHGAP33	115703	hgsc.bcm.edu	37	19	36279024	36279024	+	Missense_Mutation	SNP	C	C	T			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr19:36279024C>T	ENST00000007510.4	+	21	3701	c.3557C>T	c.(3556-3558)tCc>tTc	p.S1186F	ARHGAP33_ENST00000314737.5_Missense_Mutation_p.S1025F|AC002398.5_ENST00000433059.1_lincRNA|ARHGAP33_ENST00000378944.5_Missense_Mutation_p.S1022F			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	1186	Poly-Ser.				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						TCTTCCTCCTCCTCTTCCCCT	0.692																																																0													30	34	33					19																	36279024		2193	4287	6480	SO:0001583	missense	115703			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.3557C>T	chr19.hg19:g.36279024C>T	ENSP00000007510:p.Ser1186Phe		O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Missense_Mutation	SNP	ENST00000007510.4	hg19		.	.	.	.	.	.	.	.	.	.	c	15.16	2.750938	0.49257	.	.	ENSG00000004777	ENST00000007510;ENST00000314737;ENST00000378944	T;T;T	0.21543	2.63;2.0;2.33	4.68	3.55	0.40652	.	0.000000	0.44285	D	0.000469	T	0.22126	0.0533	N	0.19112	0.55	0.24977	N	0.991621	D;D	0.64830	0.994;0.994	P;P	0.56865	0.808;0.808	T	0.02345	-1.1173	10	0.66056	D	0.02	.	8.8936	0.35449	0.1653:0.6739:0.1608:0.0	.	1022;1025	O14559-10;O14559-11	.;.	F	1186;1025;1022	ENSP00000007510:S1186F;ENSP00000320038:S1025F;ENSP00000368227:S1022F	ENSP00000007510:S1186F	S	+	2	0	ARHGAP33	40970864	0.014000	0.17966	0.999000	0.59377	0.889000	0.51656	0.825000	0.27393	2.325000	0.78763	0.401000	0.26515	TCC		0.692	ARHGAP33-201	KNOWN	basic	protein_coding	protein_coding		NM_052948		T	36279024	C	T	36279024	3	4	786	1	0	0	0	0	1	0	0	0	882	855	30	2	3639	2	ARHGAP33	19	36279024	Missense_Mutation	SNP	C	TCGA-SX-A71V-01A-11D-A33Q-10	22906611	36279024	22849959	95	46735											
SARS2	54938	hgsc.bcm.edu	37	19	39409424	39409424	+	Silent	SNP	A	A	G			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr19:39409424A>G	ENST00000221431.6	-	8	948	c.789T>C	c.(787-789)ctT>ctC	p.L263L	CTC-360G5.8_ENST00000599996.1_Missense_Mutation_p.S333P|SARS2_ENST00000600042.1_Silent_p.L265L|SARS2_ENST00000430193.3_Silent_p.L263L|SARS2_ENST00000598831.1_5'Flank|SARS2_ENST00000448145.2_Silent_p.L263L|SARS2_ENST00000594171.1_Silent_p.L73L	NM_017827.3	NP_060297.1	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2, mitochondrial	263					gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|serine-tRNA ligase activity (GO:0004828)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CTCCGCGGAGAAGGTCTGGCA	0.647																																																0													58	40	46					19																	39409424		2187	4267	6454	SO:0001819	synonymous_variant	54938			AB029948	CCDS33017.1, CCDS54265.1	19q13.2	2014-05-06	2007-02-23			ENSG00000104835	6.1.1.11	"Aminoacyl tRNA synthetases / Class II"	17697	protein-coding gene	gene with protein product	"serine tRNA ligase 2, mitochondrial"	612804	"serine-tRNA ligase, mitochondrial", "seryl-tRNA synthetase 2"	SARSM		10764807	Standard	NM_001145901		Approved	FLJ20450, mtSerRS, SerRSmt, SARS, SERS, SYS	uc010xup.1	Q9NP81	OTTHUMG00000182691	ENST00000221431.6:c.789T>C	chr19.hg19:g.39409424A>G			A6NHW7|B4DE10|Q9BVP3	Silent	SNP	ENST00000221431.6	hg19	CCDS33017.1																																																																																				0.647	SARS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463139.1	NM_017827		G	39409424	A	G	39409424	2	3	786	1	0	0	0	0	0	0	0	1	13851	233	9	3		3	SARS2	19	39409424	Silent	SNP	A	TCGA-SX-A71V-01A-11D-A33Q-10	3130400	39409424	19719559	96	46736											
DKKL1	27120	hgsc.bcm.edu	37	19	49868766	49868766	+	Splice_Site	SNP	G	G	T			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr19:49868766G>T	ENST00000221498.2	+	3	589	c.184G>T	c.(184-186)Ggt>Tgt	p.G62C	DKKL1_ENST00000594268.1_Intron	NM_014419.3	NP_055234.1	Q9UK85	DKKL1_HUMAN	dickkopf-like 1	62					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)		CCGGCCCCAGGGTAACCTGCT	0.617																																																0													45	44	44					19																	49868766		2203	4300	6503	SO:0001630	splice_region_variant	27120			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.184-1G>T	chr19.hg19:g.49868766G>T				Missense_Mutation	SNP	ENST00000221498.2	hg19	CCDS12762.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.353860	0.41700	.	.	ENSG00000104901	ENST00000221498	T	0.12255	2.7	4.72	3.68	0.42216	.	0.570475	0.14682	N	0.304666	T	0.07638	0.0192	N	0.08118	0	0.30619	N	0.758645	D	0.53619	0.961	B	0.43950	0.437	T	0.08743	-1.0707	9	.	.	.	-3.2024	8.3814	0.32474	0.1131:0.0:0.8869:0.0	.	62	Q9UK85	DKKL1_HUMAN	C	62	ENSP00000221498:G62C	.	G	+	1	0	DKKL1	54560578	1.000000	0.71417	1.000000	0.80357	0.319000	0.28217	2.193000	0.42658	1.091000	0.41335	0.462000	0.41574	GGT		0.617	DKKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465454.2	NM_014419	Missense_Mutation	T	49868766	G	T	49868766	5	4	786	1	0	0	0	0	0	0	1	0	4550	1246	43	4	194	4	DKKL1	19	49868766	Splice_Site	SNP	G	TCGA-SX-A71V-01A-11D-A33Q-10	10459342	49868766	9260217	97	46737											
CASS4	57091	hgsc.bcm.edu	37	20	55026927	55026927	+	Missense_Mutation	SNP	G	G	T			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr20:55026927G>T	ENST00000360314.3	+	6	920	c.695G>T	c.(694-696)aGc>aTc	p.S232I	CASS4_ENST00000371336.3_Missense_Mutation_p.S232I|CASS4_ENST00000434344.1_Intron	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	232					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						GGCGGTTACAGCACATTACCA	0.502																																																0													62	58	60					20																	55026927		2203	4300	6503	SO:0001583	missense	57091			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.695G>T	chr20.hg19:g.55026927G>T	ENSP00000353462:p.Ser232Ile		E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Missense_Mutation	SNP	ENST00000360314.3	hg19	CCDS33492.1	.	.	.	.	.	.	.	.	.	.	G	13.35	2.210183	0.39003	.	.	ENSG00000087589	ENST00000360314;ENST00000371336	T;T	0.14022	2.54;2.54	5.23	-1.56	0.08532	.	0.840559	0.11112	N	0.598507	T	0.08802	0.0218	N	0.22421	0.69	0.22903	N	0.998584	B;B;B	0.26081	0.052;0.141;0.087	B;B;B	0.31547	0.033;0.132;0.046	T	0.38564	-0.9655	10	0.40728	T	0.16	-6.211	6.0264	0.19658	0.5951:0.125:0.2799:0.0	.	178;232;232	B4DII4;Q9NQ75-2;Q9NQ75	.;.;CASS4_HUMAN	I	232	ENSP00000353462:S232I;ENSP00000360387:S232I	ENSP00000353462:S232I	S	+	2	0	CASS4	54460334	0.006000	0.16342	0.001000	0.08648	0.046000	0.14306	0.119000	0.15626	-0.277000	0.09193	-0.253000	0.11424	AGC		0.502	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079789.2	NM_020356		T	55026927	G	T	55026927	3	4	786	1	0	0	0	0	1	0	0	0	2685	971	34	4	713	4	CASS4	20	55026927	Missense_Mutation	SNP	G	TCGA-SX-A71V-01A-11D-A33Q-10		55026927	7998593	98	46738											
LSM14B	149986	hgsc.bcm.edu	37	20	60704972	60704972	+	Missense_Mutation	SNP	G	G	C	rs139247673	byFrequency	TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr20:60704972G>C	ENST00000279068.6	+	4	719	c.559G>C	c.(559-561)Ggt>Cgt	p.G187R	LSM14B_ENST00000253001.4_Intron	NM_144703.2	NP_653304.2	Q9BX40	LS14B_HUMAN	LSM14B, SCD6 homolog B (S. cerevisiae)	187					multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)	ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|lung(4)	8	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			GCAGCTCAACGGTCGTCAGGC	0.552																																																0													32	35	34					20																	60704972		2076	4203	6279	SO:0001583	missense	149986			AF172328	CCDS46626.1	20q13.33	2010-01-27	2006-12-21	2006-01-24	ENSG00000149657	ENSG00000149657			15887	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 40", "family with sequence similarity 61, member B", "LSM14 homolog B (SCD6, S. cerevisiae)"	C20orf40, FAM61B			Standard	NM_144703		Approved	FT005, bA11M20.3, FLJ25473, LSM13, RAP55B	uc010gjy.1	Q9BX40	OTTHUMG00000032901	ENST00000279068.6:c.559G>C	chr20.hg19:g.60704972G>C	ENSP00000279068:p.Gly187Arg		Q6PFW8|Q96LH8	Missense_Mutation	SNP	ENST00000279068.6	hg19	CCDS46626.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.400557	0.25291	.	.	ENSG00000149657	ENST00000279068;ENST00000444156;ENST00000400318;ENST00000279069;ENST00000370906;ENST00000361670	T;T;T	0.47528	0.86;0.84;0.85	5.59	2.61	0.31194	.	.	.	.	.	T	0.60560	0.2278	M	0.67953	2.075	0.23966	N	0.996323	P;D;P;P	0.89917	0.955;1.0;0.955;0.954	P;D;B;P	0.97110	0.513;1.0;0.416;0.62	T	0.51818	-0.8657	9	0.13470	T	0.59	.	9.7243	0.40322	0.271:0.0:0.729:0.0	.	107;143;187;213	E9PG81;C9J454;Q9BX40;Q5TBQ0	.;.;LS14B_HUMAN;.	R	187;143;213;187;143;107	ENSP00000279068:G187R;ENSP00000383172:G213R;ENSP00000355209:G107R	ENSP00000279068:G187R	G	+	1	0	LSM14B	60138367	0.931000	0.31567	0.462000	0.27118	0.111000	0.19643	2.157000	0.42320	0.321000	0.23259	0.555000	0.69702	GGT		0.552	LSM14B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079996.4	NM_144703		C	60704972	G	C	60704972	3	2	786	1	0	0	0	0	1	0	0	0	9057	1116	39	4	573	4	LSM14B	20	60704972	Missense_Mutation	SNP	G	TCGA-SX-A71V-01A-11D-A33Q-10	5678045	60704972	2320548	99	46739											
COL6A2	1292	hgsc.bcm.edu	37	21	47544599	47544599	+	Missense_Mutation	SNP	G	G	T	rs147158850	byFrequency	TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr21:47544599G>T	ENST00000300527.4	+	22	1810	c.1706G>T	c.(1705-1707)cGg>cTg	p.R569L	COL6A2_ENST00000310645.5_Missense_Mutation_p.R569L|COL6A2_ENST00000357838.4_Missense_Mutation_p.R569L|COL6A2_ENST00000397763.1_Missense_Mutation_p.R569L|COL6A2_ENST00000409416.1_Missense_Mutation_p.R569L	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	569	Triple-helical region.				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)		CCAGGCCCTCGGGGGCCAAGA	0.667																																																0													44	52	49					21																	47544599		2201	4300	6501	SO:0001583	missense	1292			M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"Collagens"	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.1706G>T	chr21.hg19:g.47544599G>T	ENSP00000300527:p.Arg569Leu		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	ENST00000300527.4	hg19	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.814804	0.90790	.	.	ENSG00000142173	ENST00000300527;ENST00000357838;ENST00000310645;ENST00000409416;ENST00000397763;ENST00000413758	D;D;D;D;D;D	0.94576	-3.46;-3.46;-3.46;-3.46;-3.46;-3.21	4.08	4.08	0.47627	.	0.110157	0.64402	D	0.000015	D	0.96473	0.8849	M	0.64567	1.98	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.997	D	0.96914	0.9669	10	0.59425	D	0.04	-5.6344	16.3469	0.83138	0.0:0.0:1.0:0.0	.	569;569;569	P12110;P12110-2;P12110-3	CO6A2_HUMAN;.;.	L	569;569;569;569;569;110	ENSP00000300527:R569L;ENSP00000350497:R569L;ENSP00000312529:R569L;ENSP00000387115:R569L;ENSP00000380870:R569L;ENSP00000395751:R110L	ENSP00000300527:R569L	R	+	2	0	COL6A2	46369027	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	6.434000	0.73408	1.852000	0.53769	0.585000	0.79938	CGG		0.667	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			T	47544599	G	T	47544599	3	4	786	1	0	0	0	0	1	0	0	0	3702	1116	39	4	1788	4	COL6A2	21	47544599	Missense_Mutation	SNP	G	TCGA-SX-A71V-01A-11D-A33Q-10		47544599	585296	100	46740											
NEFH	4744	hgsc.bcm.edu	37	22	29885584	29885585	+	In_Frame_Ins	INS	-	-	CAAGTCCCCTGAGAAGGC	rs200984527|rs267607533		TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr22:29885584_29885585insCAAGTCCCCTGAGAAGGC	ENST00000310624.6	+	4	1988_1989	c.1955_1956insCAAGTCCCCTGAGAAGGC	c.(1954-1959)gccaag>gcCAAGTCCCCTGAGAAGGCcaag	p.652_653AK>AKSPEKAK		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	658	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.			Missing (in Ref. 1; CAA33366 and 5; AC000035). {ECO:0000305}.	axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						CCTGAGAAGGCCAAGTCCCCAG	0.559																																																0																																										SO:0001652	inframe_insertion	4744				CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"Intermediate filaments type IV"	7737	protein-coding gene	gene with protein product		162230	"neurofilament, heavy polypeptide 200kDa"				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	Exception_encountered	chr22.hg19:g.29885584_29885585insCAAGTCCCCTGAGAAGGC	ENSP00000311997:p.Lys647_Ala652dup		B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	In_Frame_Ins	INS	ENST00000310624.6	hg19	CCDS13858.1																																																																																				0.559	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		CAAGTCCCCTGAGAAGGC	29885585	-	CAAGTCCCCTGAGAAGGC	29885584	7	5	786	1	0	1	1	0	0	0	0	0	10316	739	26	0	1969	0	NEFH	22	29885584	In_Frame_Ins	INS	-	TCGA-SX-A71V-01A-11D-A33Q-10		29885584	21418982	101	46741											
SHANK3	85358	hgsc.bcm.edu	37	22	51160753	51160753	+	Missense_Mutation	SNP	A	A	T			TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chr22:51160753A>T	ENST00000414786.2	+	21	4677	c.4450A>T	c.(4450-4452)Agc>Tgc	p.S1484C	SHANK3_ENST00000262795.3_Missense_Mutation_p.S1514C|SHANK3_ENST00000445220.2_Missense_Mutation_p.S1500C			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	1498					adult behavior (GO:0030534)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|brain morphogenesis (GO:0048854)|dendritic spine morphogenesis (GO:0060997)|guanylate kinase-associated protein clustering (GO:0097117)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell volume (GO:0045794)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glutamate receptor signaling pathway (GO:1900451)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse structural plasticity (GO:0051835)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density assembly (GO:0097107)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of long term synaptic depression (GO:1900452)|regulation of long-term synaptic potentiation (GO:1900271)|social behavior (GO:0035176)|striatal medium spiny neuron differentiation (GO:0021773)|synapse assembly (GO:0007416)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|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)		BRCA - Breast invasive adenocarcinoma(115;0.22)		CAGTGAGCTCAGCTCCCGCCT	0.632																																																0													25	29	28					22																	51160753		1937	4003	5940	SO:0001583	missense	85358			AB051437		22q13.3	2013-11-14			ENSG00000251322	ENSG00000251322		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14294	protein-coding gene	gene with protein product	"proline rich synapse associated protein 2", "shank postsynaptic density protein"	606230				11258795, 11431708, 10806096, 17173049	Standard	NM_033517		Approved	SPANK-2, prosap2, KIAA1650, PSAP2	uc031ryd.1	Q9BYB0	OTTHUMG00000150169	ENST00000414786.2:c.4450A>T	chr22.hg19:g.51160753A>T	ENSP00000464552:p.Ser1484Cys		D7UT47|Q8TET3	Missense_Mutation	SNP	ENST00000414786.2	hg19		.	.	.	.	.	.	.	.	.	.	A	17.99	3.522943	0.64747	.	.	ENSG00000251322	ENST00000262795;ENST00000445220	T;T	0.54479	0.57;0.69	5.43	4.4	0.53042	.	0.045054	0.85682	D	0.000000	T	0.66626	0.2808	M	0.68952	2.095	0.29241	N	0.872645	D;D;D	0.89917	0.996;0.999;1.0	P;D;D	0.77557	0.819;0.99;0.956	T	0.63708	-0.6576	10	0.72032	D	0.01	.	8.8082	0.34952	0.9114:0.0:0.0886:0.0	.	1498;1499;1514	D7UT47;Q9BYB0;F2Z3L0	.;SHAN3_HUMAN;.	C	1514;1500	ENSP00000442518:S1514C;ENSP00000446078:S1500C	ENSP00000442518:S1514C	S	+	1	0	SHANK3	49507619	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.406000	0.73276	2.064000	0.61679	0.460000	0.39030	AGC		0.632	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000316674.2	NM_001080420		T	51160753	A	T	51160753	3	4	786	1	0	0	0	0	1	0	0	0	14272	188	7	5	4626	5	SHANK3	22	51160753	Missense_Mutation	SNP	A	TCGA-SX-A71V-01A-11D-A33Q-10	21275169	51160753	143813	102	46742											
MAGEC1	9947	hgsc.bcm.edu	37	X	140993981	140994085	+	In_Frame_Del	DEL	CCCAGTCTTCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTAGTGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTC	CCCAGTCTTCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTAGTGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTC	-	rs144495362|rs77648555|rs146798989|rs143600642|rs138695129|rs150017439|rs176043|rs176045|rs176044|rs146036055|rs386828015|rs112112998|rs80051600|rs78189215|rs150327147|rs75148863|rs176046|rs140075882|rs200821167|rs149195933|rs141817885	byFrequency	TCGA-SX-A71V-01A-11D-A33Q-10	TCGA-SX-A71V-10A-01D-A33Q-10	CCCAGTCTTCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTAGTGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTC	CCCAGTCTTCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTAGTGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7879708e-a807-4002-9d4d-efc84d51a4e5	af4acae0-89a6-4004-ad5b-149db143f98b	g.chrX:140993981_140994085delCCCAGTCTTCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTAGTGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTC	ENST00000285879.4	+	4	1077_1181	c.791_895delCCCAGTCTTCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTAGTGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTC	c.(790-897)gcccagtcttctctccagattcctgtgagcccctccttctcctccactttagtgagtcttttccagagttcccctgagagaactcagagtacttttgagggttttccc>gcc	p.QSSLQIPVSPSFSSTLVSLFQSSPERTQSTFEGFP265del	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	265								p.Q265K(1)		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)					GAGGGTTTTGCCCAGTCTTCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTAGTGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTCC	0.495										HNSCC(15;0.026)																																						1	Substitution - Missense(1)	lung(1)																																								SO:0001651	inframe_deletion	9947			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.791_895delCCCAGTCTTCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTAGTGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTC	chrX.hg19:g.140993981_140994085delCCCAGTCTTCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTAGTGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTC	ENSP00000285879:p.Gln265_Pro299del		A0PK03|O75451|Q8TCV4	In_Frame_Del	DEL	ENST00000285879.4	hg19	CCDS35417.1																																																																																				0.495	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		-	140994085	CCCAGTCTTCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTAGTGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTC	-	140993981	7	5	786	1	0	1	0	1	0	0	0	0	9182	739	26	0	797	0	MAGEC1	23	140993981	In_Frame_Del	DEL	CCCAGTCTTCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTAGTGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTC	TCGA-SX-A71V-01A-11D-A33Q-10		140993981	14276579	103	46743											
LRPPRC	10128	hgsc.bcm.edu	37	2	44139609	44139609	+	Silent	SNP	T	T	C			TCGA-SX-A71W-01A-12D-A34Z-10	TCGA-SX-A71W-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39d5e130-8dd3-4884-81ca-045c8ae54290	365767f7-d1f9-4779-86a3-9b5ad8bbe963	g.chr2:44139609T>C	ENST00000260665.7	-	30	3294	c.3237A>G	c.(3235-3237)tcA>tcG	p.S1079S		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	1079					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AATAATCTTCTGACATCAGTA	0.328																																																0													117	113	114					2																	44139609		2202	4297	6499	SO:0001819	synonymous_variant	10128			M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.3237A>G	chr2.hg19:g.44139609T>C			A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Silent	SNP	ENST00000260665.7	hg19	CCDS33189.1																																																																																				0.328	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327823.1	NM_133259		C	44139609	T	C	44139609	2	2	787	1	0	0	0	0	0	0	0	1	8967	1567	55	3		3	LRPPRC	2	44139609	Silent	SNP	T	TCGA-SX-A71W-01A-12D-A34Z-10		44139609	199059764	1	46744											
SMEK2	57223	hgsc.bcm.edu	37	2	55805411	55805411	+	Missense_Mutation	SNP	A	A	T			TCGA-SX-A71W-01A-12D-A34Z-10	TCGA-SX-A71W-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39d5e130-8dd3-4884-81ca-045c8ae54290	365767f7-d1f9-4779-86a3-9b5ad8bbe963	g.chr2:55805411A>T	ENST00000345102.5	-	10	1837	c.1536T>A	c.(1534-1536)caT>caA	p.H512Q	SMEK2_ENST00000272313.5_Intron|SMEK2_ENST00000407823.3_Intron	NM_001122964.1	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	512					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			agggggtagaatgggaatggg	0.323																																																0													111	113	112					2																	55805411		692	1591	2283	SO:0001583	missense	57223			AB037808	CCDS1855.1, CCDS46289.1, CCDS62913.1	2p16.1	2008-09-15			ENSG00000138041				29267	protein-coding gene	gene with protein product		610352				16085932, 18614045	Standard	NM_001122964		Approved	PSY2, FLFL2, KIAA1387, FLJ31474	uc002rzc.3	Q5MIZ7	OTTHUMG00000129336	ENST00000345102.5:c.1536T>A	chr2.hg19:g.55805411A>T	ENSP00000339769:p.His512Gln		Q6P9B0|Q86XB8|Q9BQJ0|Q9BRK2|Q9H913|Q9P2G0	Missense_Mutation	SNP	ENST00000345102.5	hg19	CCDS46289.1	.	.	.	.	.	.	.	.	.	.	A	3.267	-0.149862	0.06585	.	.	ENSG00000138041	ENST00000345102	T	0.40225	1.04	1.84	0.645	0.17782	Armadillo-type fold (1);	1.447810	0.05139	U	0.493933	T	0.20577	0.0495	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18085	-1.0348	10	0.18710	T	0.47	.	3.6958	0.08364	0.7972:0.0:0.2028:0.0	.	512	Q5MIZ7	P4R3B_HUMAN	Q	512	ENSP00000339769:H512Q	ENSP00000339769:H512Q	H	-	3	2	SMEK2	55658915	0.000000	0.05858	0.001000	0.08648	0.024000	0.10985	0.114000	0.15520	0.187000	0.20147	0.383000	0.25322	CAT		0.323	SMEK2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251483.1	NM_020463		T	55805411	A	T	55805411	3	4	787	1	0	0	0	0	1	0	0	0	14800	98	4	5	1045	5	SMEK2	2	55805411	Missense_Mutation	SNP	A	TCGA-SX-A71W-01A-12D-A34Z-10	11665802	55805411	187393962	2	46745											
DPP10	57628	hgsc.bcm.edu	37	2	116497451	116497451	+	Silent	SNP	G	G	A	rs541980291		TCGA-SX-A71W-01A-12D-A34Z-10	TCGA-SX-A71W-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39d5e130-8dd3-4884-81ca-045c8ae54290	365767f7-d1f9-4779-86a3-9b5ad8bbe963	g.chr2:116497451G>A	ENST00000410059.1	+	9	1314	c.834G>A	c.(832-834)aaG>aaA	p.K278K	DPP10_ENST00000310323.8_Silent_p.K271K|DPP10_ENST00000409163.1_Silent_p.K228K|DPP10_ENST00000393147.2_Silent_p.K282K	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	278						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						CCAAAGGAAAGCAGTATCCGT	0.433													G|||	1	0.000199681	0.0	0.0	5008	,	,		20710	0.0		0.0	False		,,,				2504	0.001															0													222	197	205					2																	116497451		2203	4300	6503	SO:0001819	synonymous_variant	57628			AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"dipeptidylpeptidase 10", "dipeptidyl-peptidase 10"			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.834G>A	chr2.hg19:g.116497451G>A			A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Silent	SNP	ENST00000410059.1	hg19	CCDS46400.1																																																																																				0.433	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		A	116497451	G	A	116497451	2	1	787	1	0	0	0	0	0	0	0	1	4729	962	34	2		2	DPP10	2	116497451	Silent	SNP	G	TCGA-SX-A71W-01A-12D-A34Z-10	60692040	116497451	126701922	3	46746											
GPR148	344561	hgsc.bcm.edu	37	2	131487490	131487490	+	Missense_Mutation	SNP	T	T	C			TCGA-SX-A71W-01A-12D-A34Z-10	TCGA-SX-A71W-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39d5e130-8dd3-4884-81ca-045c8ae54290	365767f7-d1f9-4779-86a3-9b5ad8bbe963	g.chr2:131487490T>C	ENST00000309926.4	+	1	848	c.766T>C	c.(766-768)Tat>Cat	p.Y256H		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	256						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					GGGGCAGGGCTATTCCCGGGC	0.567																																																0													122	116	118					2																	131487490		2203	4300	6503	SO:0001583	missense	344561			AY255532	CCDS2163.1	2q21.2	2012-08-21			ENSG00000173302	ENSG00000173302		"GPCR / Class A : Orphans"	23623	protein-coding gene	gene with protein product						12679517	Standard	NM_207364		Approved	PGR6	uc002trv.2	Q8TDV2	OTTHUMG00000131655	ENST00000309926.4:c.766T>C	chr2.hg19:g.131487490T>C	ENSP00000308908:p.Tyr256His		Q2M369|Q86SP7|Q86U87	Missense_Mutation	SNP	ENST00000309926.4	hg19	CCDS2163.1	.	.	.	.	.	.	.	.	.	.	.	14.59	2.581074	0.46006	.	.	ENSG00000173302	ENST00000309926	T	0.36340	1.26	2.87	2.87	0.33458	GPCR, rhodopsin-like superfamily (1);	0.119947	0.34932	U	0.003580	T	0.31734	0.0806	N	0.19112	0.55	0.27290	N	0.957872	D	0.55385	0.971	P	0.55161	0.77	T	0.08330	-1.0727	10	0.23302	T	0.38	-0.0036	9.4681	0.38824	0.0:0.0:0.0:1.0	.	256	Q8TDV2	GP148_HUMAN	H	256	ENSP00000308908:Y256H	ENSP00000308908:Y256H	Y	+	1	0	GPR148	131203960	0.837000	0.29446	0.200000	0.23457	0.707000	0.40811	3.721000	0.54941	1.276000	0.44395	0.379000	0.24179	TAT		0.567	GPR148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254552.3	XM_293092		C	131487490	T	C	131487490	3	2	787	1	0	0	0	0	1	0	0	0	6655	1522	53	3	768	3	GPR148	2	131487490	Missense_Mutation	SNP	T	TCGA-SX-A71W-01A-12D-A34Z-10	14990039	131487490	111711883	4	46747											
SGOL2	151246	hgsc.bcm.edu	37	2	201436485	201436485	+	Missense_Mutation	SNP	A	A	T			TCGA-SX-A71W-01A-12D-A34Z-10	TCGA-SX-A71W-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39d5e130-8dd3-4884-81ca-045c8ae54290	365767f7-d1f9-4779-86a3-9b5ad8bbe963	g.chr2:201436485A>T	ENST00000357799.4	+	7	1514	c.1416A>T	c.(1414-1416)aaA>aaT	p.K472N		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)	472					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						AACTAAAGAAAATGACCCTTC	0.388																																																0													151	151	151					2																	201436485		1827	4081	5908	SO:0001583	missense	151246			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.1416A>T	chr2.hg19:g.201436485A>T	ENSP00000350447:p.Lys472Asn		Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Missense_Mutation	SNP	ENST00000357799.4	hg19	CCDS42796.1	.	.	.	.	.	.	.	.	.	.	A	11.53	1.667269	0.29604	.	.	ENSG00000163535	ENST00000357799	T	0.49720	0.77	5.15	3.92	0.45320	.	0.504521	0.19999	N	0.101377	T	0.40886	0.1135	L	0.50333	1.59	0.23371	N	0.997817	P;P;P	0.40431	0.717;0.717;0.717	B;B;B	0.37198	0.243;0.243;0.243	T	0.45818	-0.9235	10	0.72032	D	0.01	-6.3242	11.4245	0.50003	0.8502:0.1498:0.0:0.0	.	472;472;472	B7Z7S9;Q562F6-2;Q562F6	.;.;SGOL2_HUMAN	N	472	ENSP00000350447:K472N	ENSP00000350447:K472N	K	+	3	2	SGOL2	201144730	0.018000	0.18449	0.053000	0.19242	0.163000	0.22366	0.469000	0.22067	2.285000	0.76669	0.477000	0.44152	AAA		0.388	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524		T	201436485	A	T	201436485	3	4	787	1	0	0	0	0	1	0	0	0	14223	11	1	5	1438	5	SGOL2	2	201436485	Missense_Mutation	SNP	A	TCGA-SX-A71W-01A-12D-A34Z-10	69948995	201436485	41762888	5	46748											
UGT1A4	54657	hgsc.bcm.edu	37	2	234627924	234627924	+	Missense_Mutation	SNP	C	C	G			TCGA-SX-A71W-01A-12D-A34Z-10	TCGA-SX-A71W-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39d5e130-8dd3-4884-81ca-045c8ae54290	365767f7-d1f9-4779-86a3-9b5ad8bbe963	g.chr2:234627924C>G	ENST00000373409.3	+	1	501	c.458C>G	c.(457-459)cCc>cGc	p.P153R	UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron	NM_007120.2	NP_009051.1	P22310	UD14_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A4	153					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)	TTAACAGACCCCGTTAACCTC	0.483																																					Melanoma(99;1011 1962 13201 26492)											0													186	187	186					2																	234627924		2203	4300	6503	SO:0001583	missense	54657			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.458C>G	chr2.hg19:g.234627924C>G	ENSP00000362508:p.Pro153Arg		B2R937|B8K288|Q5DT00	Missense_Mutation	SNP	ENST00000373409.3	hg19	CCDS33405.1	.	.	.	.	.	.	.	.	.	.	C	17.51	3.408615	0.62399	.	.	ENSG00000244474	ENST00000373409	T	0.64085	-0.08	4.31	3.41	0.39046	.	.	.	.	.	D	0.82323	0.5012	M	0.92026	3.265	0.39588	D	0.96953	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86763	0.1968	9	0.87932	D	0	.	14.1475	0.65360	0.0:0.8489:0.1511:0.0	.	153;153	B8K288;P22310	.;UD14_HUMAN	R	153	ENSP00000362508:P153R	ENSP00000362508:P153R	P	+	2	0	UGT1A4	234292663	0.664000	0.27457	0.002000	0.10522	0.002000	0.02628	3.930000	0.56522	0.764000	0.33197	0.491000	0.48974	CCC		0.483	UGT1A4-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130984.1	NM_007120		G	234627924	C	G	234627924	3	3	787	1	0	0	0	0	1	0	0	0	16952	623	22	4	460	4	UGT1A4	2	234627924	Missense_Mutation	SNP	C	TCGA-SX-A71W-01A-12D-A34Z-10	33191439	234627924	8571449	6	46749											
SH3BP5	9467	hgsc.bcm.edu	37	3	15298489	15298489	+	Missense_Mutation	SNP	C	C	T			TCGA-SX-A71W-01A-12D-A34Z-10	TCGA-SX-A71W-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39d5e130-8dd3-4884-81ca-045c8ae54290	365767f7-d1f9-4779-86a3-9b5ad8bbe963	g.chr3:15298489C>T	ENST00000383791.3	-	8	1241	c.1021G>A	c.(1021-1023)Gtt>Att	p.V341I	SH3BP5-AS1_ENST00000413977.1_RNA|SH3BP5-AS1_ENST00000420195.1_RNA|SH3BP5-AS1_ENST00000436602.1_RNA|SH3BP5_ENST00000253688.5_Missense_Mutation_p.V184I|SH3BP5_ENST00000426925.1_Missense_Mutation_p.V184I|SH3BP5_ENST00000408919.3_Missense_Mutation_p.V184I	NM_004844.4	NP_004835.2	O60239	3BP5_HUMAN	SH3-domain binding protein 5 (BTK-associated)	341	Ser-rich.				intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	protein kinase inhibitor activity (GO:0004860)			NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	12						GGCCTCACAACCGCAGGGAAC	0.572																																																0													79	68	71					3																	15298489		2203	4300	6503	SO:0001583	missense	9467			AB005047	CCDS2625.2, CCDS43055.1	3p24.3	2008-07-10			ENSG00000131370	ENSG00000131370			10827	protein-coding gene	gene with protein product	"SH3 binding protein"	605612				9571151, 10339589	Standard	NM_004844		Approved	Sab	uc003bzp.2	O60239	OTTHUMG00000129859	ENST00000383791.3:c.1021G>A	chr3.hg19:g.15298489C>T	ENSP00000373301:p.Val341Ile		B3KQW6|Q5JWV9	Missense_Mutation	SNP	ENST00000383791.3	hg19	CCDS2625.2	.	.	.	.	.	.	.	.	.	.	C	11.98	1.800873	0.31869	.	.	ENSG00000131370	ENST00000383791;ENST00000426925;ENST00000253688;ENST00000408919	.	.	.	5.43	4.56	0.56223	.	0.475884	0.23055	N	0.052451	T	0.41073	0.1143	L	0.40543	1.245	0.26692	N	0.971326	B	0.12630	0.006	B	0.11329	0.006	T	0.38650	-0.9651	9	0.56958	D	0.05	-13.6705	13.829	0.63368	0.0:0.9254:0.0:0.0746	.	341	O60239	3BP5_HUMAN	I	341;184;184;184	.	ENSP00000253688:V184I	V	-	1	0	SH3BP5	15273493	0.048000	0.20356	0.036000	0.18154	0.411000	0.31082	3.448000	0.52943	1.314000	0.45095	0.456000	0.33151	GTT		0.572	SH3BP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340740.2	NM_004844		T	15298489	C	T	15298489	3	4	787	1	0	0	0	0	1	0	0	0	14253	507	18	2	354	2	SH3BP5	3	15298489	Missense_Mutation	SNP	C	TCGA-SX-A71W-01A-12D-A34Z-10		15298489	182723941	7	46750											
KIAA0232	9778	hgsc.bcm.edu	37	4	6865878	6865878	+	Missense_Mutation	SNP	G	G	T			TCGA-SX-A71W-01A-12D-A34Z-10	TCGA-SX-A71W-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39d5e130-8dd3-4884-81ca-045c8ae54290	365767f7-d1f9-4779-86a3-9b5ad8bbe963	g.chr4:6865878G>T	ENST00000307659.5	+	7	4224	c.3769G>T	c.(3769-3771)Gat>Tat	p.D1257Y	KIAA0232_ENST00000425103.1_Missense_Mutation_p.D1257Y	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	1257							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						TGCTTATGAAGATAATCCAGT	0.393																																																0													84	76	78					4																	6865878		1863	4110	5973	SO:0001583	missense	9778			D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.3769G>T	chr4.hg19:g.6865878G>T	ENSP00000303928:p.Asp1257Tyr		A7E2D2	Missense_Mutation	SNP	ENST00000307659.5	hg19	CCDS43209.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.289279	0.80914	.	.	ENSG00000170871	ENST00000425103;ENST00000307659	.	.	.	5.43	5.43	0.79202	.	0.200580	0.43919	D	0.000507	T	0.63438	0.2511	N	0.24115	0.695	0.52501	D	0.999958	D	0.63046	0.992	P	0.60473	0.875	T	0.67628	-0.5622	9	0.87932	D	0	-33.6837	19.1974	0.93695	0.0:0.0:1.0:0.0	.	1257	Q92628	K0232_HUMAN	Y	1257	.	ENSP00000303928:D1257Y	D	+	1	0	KIAA0232	6916779	1.000000	0.71417	0.994000	0.49952	0.977000	0.68977	4.717000	0.61923	2.708000	0.92522	0.655000	0.94253	GAT		0.393	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359102.2	NM_014743		T	6865878	G	T	6865878	3	4	787	1	0	0	0	0	1	0	0	0	8165	942	33	4	3787	4	KIAA0232	4	6865878	Missense_Mutation	SNP	G	TCGA-SX-A71W-01A-12D-A34Z-10		6865878	184288398	8	46751											
ALB	213	hgsc.bcm.edu	37	4	74277773	74277773	+	Silent	SNP	A	A	G			TCGA-SX-A71W-01A-12D-A34Z-10	TCGA-SX-A71W-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39d5e130-8dd3-4884-81ca-045c8ae54290	365767f7-d1f9-4779-86a3-9b5ad8bbe963	g.chr4:74277773A>G	ENST00000503124.1	+	5	531	c.324A>G	c.(322-324)ttA>ttG	p.L108L	ALB_ENST00000295897.4_Silent_p.L258L|ALB_ENST00000415165.2_Silent_p.L66L|ALB_ENST00000401494.3_Silent_p.L143L|ALB_ENST00000509063.1_Silent_p.L258L|ALB_ENST00000505649.1_3'UTR			Q8TES7	FBF1_HUMAN	albumin	0					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTTCCAAGTTAGTGACAGATC	0.448																																																0													163	154	157					4																	74277773		2203	4300	6503	SO:0001819	synonymous_variant	213			V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631			399	protein-coding gene	gene with protein product		103600				6292049, 6192711	Standard	NM_000477		Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000503124.1:c.324A>G	chr4.hg19:g.74277773A>G			B5MEM5|Q96IF6|Q96JG4|Q96MA8	Silent	SNP	ENST00000503124.1	hg19		.	.	.	.	.	.	.	.	.	.	A	5.075	0.199470	0.09652	.	.	ENSG00000163631	ENST00000511370	.	.	.	6.02	-2.56	0.06268	.	.	.	.	.	T	0.18635	0.0447	.	.	.	0.23320	N	0.997914	.	.	.	.	.	.	T	0.26292	-1.0107	4	.	.	.	-0.2498	1.6874	0.02845	0.2818:0.1219:0.3593:0.237	.	.	.	.	G	103	.	.	S	+	1	0	ALB	74496637	0.041000	0.20044	0.019000	0.16419	0.625000	0.37756	-0.401000	0.07232	-0.286000	0.09076	0.533000	0.62120	AGT		0.448	ALB-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365419.1	NM_000477		G	74277773	A	G	74277773	2	3	787	1	0	0	0	0	0	0	0	1	486	417	15	3		3	ALB	4	74277773	Silent	SNP	A	TCGA-SX-A71W-01A-12D-A34Z-10	67411895	74277773	116876503	9	46752											
ITGA1	3672	hgsc.bcm.edu	37	5	52235508	52235508	+	Missense_Mutation	SNP	G	G	A			TCGA-SX-A71W-01A-12D-A34Z-10	TCGA-SX-A71W-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39d5e130-8dd3-4884-81ca-045c8ae54290	365767f7-d1f9-4779-86a3-9b5ad8bbe963	g.chr5:52235508G>A	ENST00000282588.6	+	25	3625	c.3167G>A	c.(3166-3168)cGa>cAa	p.R1056Q	CTD-2175A23.1_ENST00000505701.1_RNA|CTD-2175A23.1_ENST00000503559.1_RNA	NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	1056					activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				CATCTCAAACGAGGCACAATT	0.333																																																0													73	71	72					5																	52235508		2203	4300	6503	SO:0001583	missense	3672			X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"CD molecules", "Integrins"	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.3167G>A	chr5.hg19:g.52235508G>A	ENSP00000282588:p.Arg1056Gln		B2RNU0	Missense_Mutation	SNP	ENST00000282588.6	hg19	CCDS3955.1	.	.	.	.	.	.	.	.	.	.	G	8.692	0.907639	0.17833	.	.	ENSG00000213949	ENST00000282588	T	0.46819	0.86	6.05	2.19	0.27852	.	0.307081	0.26553	N	0.023732	T	0.35941	0.0949	L	0.40543	1.245	0.26987	N	0.965229	B	0.22276	0.067	B	0.24541	0.054	T	0.24440	-1.0160	10	0.40728	T	0.16	.	8.7957	0.34878	0.1521:0.1263:0.7215:0.0	.	1056	P56199	ITA1_HUMAN	Q	1056	ENSP00000282588:R1056Q	ENSP00000282588:R1056Q	R	+	2	0	ITGA1	52271265	0.253000	0.23982	1.000000	0.80357	0.146000	0.21551	-0.082000	0.11304	0.449000	0.26747	-0.961000	0.02630	CGA		0.333	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	NM_181501		A	52235508	G	A	52235508	3	1	787	1	0	0	0	0	1	0	0	0	7874	1058	37	1	3265	1	ITGA1	5	52235508	Missense_Mutation	SNP	G	TCGA-SX-A71W-01A-12D-A34Z-10		52235508	128679752	10	46753											
GCNT2	2651	hgsc.bcm.edu	37	6	10529942	10529942	+	Nonsense_Mutation	SNP	C	C	G	rs377397535		TCGA-SX-A71W-01A-12D-A34Z-10	TCGA-SX-A71W-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39d5e130-8dd3-4884-81ca-045c8ae54290	365767f7-d1f9-4779-86a3-9b5ad8bbe963	g.chr6:10529942C>G	ENST00000379597.3	+	1	1354	c.798C>G	c.(796-798)taC>taG	p.Y266*	GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000495262.1_Nonsense_Mutation_p.Y266*			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	266					maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		GCACGGCCTACGTGGCTCTCA	0.458																																																0													135	128	130					6																	10529942		2203	4300	6503	SO:0001587	stop_gained	2651			L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"Blood group antigens", "Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	4204	protein-coding gene	gene with protein product	"Ii blood group", "unassigned linkage group 3"	600429	"glucosaminyl (N-acetyl) transferase 5", "glucosaminyl (N-acetyl) transferase 2, I-branching enzyme", "glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)", "cataract, congenital"	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.798C>G	chr6.hg19:g.10529942C>G	ENSP00000368917:p.Tyr266*			Nonsense_Mutation	SNP	ENST00000379597.3	hg19	CCDS34338.1	.	.	.	.	.	.	.	.	.	.	C	40	8.527037	0.98850	.	.	ENSG00000111846	ENST00000495262;ENST00000379597	.	.	.	5.7	-2.52	0.06346	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.0933	13.3481	0.60587	0.0:0.4988:0.0:0.5012	.	.	.	.	X	266	.	ENSP00000368917:Y266X	Y	+	3	2	GCNT2	10637928	0.061000	0.20836	0.972000	0.41901	0.910000	0.53928	-0.622000	0.05553	-0.685000	0.05177	-1.072000	0.02254	TAC		0.458	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	NM_145649		G	10529942	C	G	10529942	4	3	787	1	0	0	0	0	0	1	0	0	6303	547	19	4	800	4	GCNT2	6	10529942	Nonsense_Mutation	SNP	C	TCGA-SX-A71W-01A-12D-A34Z-10		10529942	160585125	11	46754											
MRPS18A	55168	hgsc.bcm.edu	37	6	43646267	43646267	+	Silent	SNP	C	C	T	rs568509997		TCGA-SX-A71W-01A-12D-A34Z-10	TCGA-SX-A71W-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39d5e130-8dd3-4884-81ca-045c8ae54290	365767f7-d1f9-4779-86a3-9b5ad8bbe963	g.chr6:43646267C>T	ENST00000372133.3	-	3	251	c.240G>A	c.(238-240)aaG>aaA	p.K80K	MRPS18A_ENST00000372116.1_Silent_p.K80K	NM_018135.3	NP_060605.1	Q9NVS2	RT18A_HUMAN	mitochondrial ribosomal protein S18A	80					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)	structural constituent of ribosome (GO:0003735)			kidney(3)|large_intestine(1)	4	all_cancers(18;6.56e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000479)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0102)|OV - Ovarian serous cystadenocarcinoma(102;0.137)			CATAGTTATACTTGTGCTTCA	0.527													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20679	0.0		0.0	False		,,,				2504	0.0															0													114	96	102					6																	43646267		2203	4300	6503	SO:0001819	synonymous_variant	55168			AB049952	CCDS4906.1, CCDS55006.1	6p21.3	2012-09-13			ENSG00000096080	ENSG00000096080		"Mitochondrial ribosomal proteins / small subunits"	14515	protein-coding gene	gene with protein product		611981				11279123, 11543634	Standard	NM_018135		Approved	FLJ10548, MRPS18-3	uc003ovy.2	Q9NVS2	OTTHUMG00000014750	ENST00000372133.3:c.240G>A	chr6.hg19:g.43646267C>T			A6XND3|Q5QPA4	Silent	SNP	ENST00000372133.3	hg19	CCDS4906.1																																																																																				0.527	MRPS18A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040697.1	NM_018135		T	43646267	C	T	43646267	2	4	787	1	0	0	0	0	0	0	0	1	9830	564	20	2		2	MRPS18A	6	43646267	Silent	SNP	C	TCGA-SX-A71W-01A-12D-A34Z-10	33116325	43646267	127468800	12	46755											
CFTR	1080	hgsc.bcm.edu	37	7	117232346	117232346	+	Silent	SNP	C	C	A	rs121908760|rs35722447		TCGA-SX-A71W-01A-12D-A34Z-10	TCGA-SX-A71W-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39d5e130-8dd3-4884-81ca-045c8ae54290	365767f7-d1f9-4779-86a3-9b5ad8bbe963	g.chr7:117232346C>A	ENST00000003084.6	+	14	2257	c.2125C>A	c.(2125-2127)Cga>Aga	p.R709R	CFTR_ENST00000454343.1_Silent_p.R648R	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	709					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)	CAACTCTATACGAAAATTTTC	0.383									Cystic Fibrosis																																							0			GRCh37	CM950248	CFTR	M	rs121908760						42	43	43					7																	117232346		2203	4300	6503	SO:0001819	synonymous_variant	1080	Familial Cancer Database	CF	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.2125C>A	chr7.hg19:g.117232346C>A			Q20BG8|Q20BH2|Q2I0A1|Q2I102	Silent	SNP	ENST00000003084.6	hg19	CCDS5773.1																																																																																				0.383	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492		A	117232346	C	A	117232346	2	1	787	1	0	0	0	0	0	0	0	1	3296	528	19	4		4	CFTR	7	117232346	Silent	SNP	C	TCGA-SX-A71W-01A-12D-A34Z-10		117232346	41906317	13	46756											
SPAG11B	10407	hgsc.bcm.edu	37	8	7320361	7320361	+	Missense_Mutation	SNP	C	C	T			TCGA-SX-A71W-01A-12D-A34Z-10	TCGA-SX-A71W-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39d5e130-8dd3-4884-81ca-045c8ae54290	365767f7-d1f9-4779-86a3-9b5ad8bbe963	g.chr8:7320361C>T	ENST00000297498.2	-	2	248	c.82G>A	c.(82-84)Gtg>Atg	p.V28M	SPAG11B_ENST00000361111.2_Missense_Mutation_p.V28M|SPAG11B_ENST00000359758.5_Missense_Mutation_p.V28M|SPAG11B_ENST00000317900.5_Missense_Mutation_p.V28M|SPAG11B_ENST00000398462.2_Missense_Mutation_p.V28M	NM_016512.3	NP_057596.1	Q08648	SG11B_HUMAN	sperm associated antigen 11B	28					spermatogenesis (GO:0007283)	extracellular region (GO:0005576)				large_intestine(2)|lung(3)|urinary_tract(1)	6				COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		GAGTGGTTCACATGTCTGGCT	0.587																																																0													94	103	100					8																	7320361		2201	4295	6496	SO:0001583	missense	10407			AF168616	CCDS5964.1, CCDS5965.1, CCDS5966.1, CCDS5967.1, CCDS47774.1	8p23.1	2014-02-21	2007-03-15	2007-03-15	ENSG00000164871	ENSG00000164871			14534	protein-coding gene	gene with protein product	"epididymal protein 2B"	606560				8167223, 1693137	Standard	NM_058200		Approved	HE2, EP2, EP2C, EP2D, EDDM2B	uc003wrl.3	Q08648	OTTHUMG00000129219	ENST00000297498.2:c.82G>A	chr8.hg19:g.7320361C>T	ENSP00000297498:p.Val28Met		E9PFH0|Q546A0|Q6ZYB2|Q9H4P8|Q9H4P9|Q9H4Q0|Q9H4Q1|Q9H4Q2|Q9NRT3|Q9NRV4|Q9NRV5|Q9NRV6|Q9NRV7|Q9NRV8	Missense_Mutation	SNP	ENST00000297498.2	hg19	CCDS5966.1	.	.	.	.	.	.	.	.	.	.	C	12.20	1.866049	0.32977	.	.	ENSG00000164871	ENST00000528943;ENST00000359758;ENST00000361111;ENST00000297498;ENST00000398462;ENST00000317900	T;T;T	0.54279	1.17;0.58;1.18	2.59	-1.72	0.08107	.	.	.	.	.	T	0.56645	0.1999	L	0.43152	1.355	0.09310	N	1	P;D;D;D;D	0.89917	0.926;0.97;0.996;0.994;1.0	P;P;D;D;D	0.91635	0.628;0.744;0.992;0.986;0.999	T	0.47598	-0.9105	9	0.72032	D	0.01	.	3.3012	0.06984	0.0:0.3248:0.2202:0.455	.	28;28;28;28;28	Q08648-3;A8MZA0;Q08648;Q6PDA7-3;E9PAK7	.;.;SG11B_HUMAN;.;.	M	11;28;28;28;28;28	ENSP00000437154:V11M;ENSP00000354411:V28M;ENSP00000297498:V28M	ENSP00000297498:V28M	V	-	1	0	SPAG11B	7307771	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.299000	0.08254	-0.461000	0.06993	0.461000	0.40582	GTG		0.587	SPAG11B-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251390.2	NM_058202, NM_058200, NM_058201, NM_016512, NM_058203, NM_058206, NM_058207		T	7320361	C	T	7320361	3	4	787	1	0	0	0	0	1	0	0	0	14983	478	17	2	637	2	SPAG11B	8	7320361	Missense_Mutation	SNP	C	TCGA-SX-A71W-01A-12D-A34Z-10		7320361	139043661	14	46757											
GNE	10020	hgsc.bcm.edu	37	9	36246171	36246171	+	Missense_Mutation	SNP	A	A	G			TCGA-SX-A71W-01A-12D-A34Z-10	TCGA-SX-A71W-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39d5e130-8dd3-4884-81ca-045c8ae54290	365767f7-d1f9-4779-86a3-9b5ad8bbe963	g.chr9:36246171A>G	ENST00000539815.1	-	2	513	c.473T>C	c.(472-474)gTg>gCg	p.V158A	GNE_ENST00000539208.1_Missense_Mutation_p.V99A|GNE_ENST00000396594.3_Missense_Mutation_p.V189A|GNE_ENST00000543356.2_Missense_Mutation_p.V153A|GNE_ENST00000377902.5_Missense_Mutation_p.V158A|GNE_ENST00000447283.2_Missense_Mutation_p.V158A			Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	158					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)			GGTGCAGCACACATGATAATG	0.483																																					GBM(184;106 2118 20004 35750 50727)											0													189	151	164					9																	36246171		2203	4300	6503	SO:0001583	missense	10020			AF051852	CCDS6602.1, CCDS47965.1, CCDS55308.1, CCDS55309.1, CCDS55310.1	9p13.1	2008-02-05	2003-12-01		ENSG00000159921	ENSG00000159921			23657	protein-coding gene	gene with protein product		603824	"UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase"	IBM2		9305887, 9305888	Standard	NM_005476		Approved	Uae1	uc010mli.3	Q9Y223	OTTHUMG00000019899	ENST00000539815.1:c.473T>C	chr9.hg19:g.36246171A>G	ENSP00000439155:p.Val158Ala		A6PZH2|A6PZH3|A7UNU7|B2R6E1|B7Z372|B7Z428|D3DRP7|F5H499|H0YFA7|Q0VA94	Missense_Mutation	SNP	ENST00000539815.1	hg19	CCDS6602.1	.	.	.	.	.	.	.	.	.	.	A	11.94	1.787539	0.31593	.	.	ENSG00000159921	ENST00000377902;ENST00000396594;ENST00000339267;ENST00000539815;ENST00000543356;ENST00000539208;ENST00000447283	D;D;D;D;D	0.99207	-5.56;-5.56;-5.56;-5.56;-5.56	5.77	5.77	0.91146	.	0.054309	0.64402	D	0.000001	D	0.93077	0.7796	N	0.00347	-1.61	0.41973	D	0.990766	B;B;B;B;B	0.11235	0.0;0.0;0.0;0.0;0.004	B;B;B;B;B	0.14023	0.001;0.001;0.001;0.001;0.01	D	0.89903	0.4046	10	0.36615	T	0.2	0.989	8.5662	0.33540	0.9149:0.0:0.0851:0.0	.	99;117;189;158;158	F5H499;Q9Y223-3;Q9Y223-2;Q9Y223;A7UNU7	.;.;.;GLCNE_HUMAN;.	A	158;189;153;158;130;99;158	ENSP00000367134:V158A;ENSP00000379839:V189A;ENSP00000439155:V158A;ENSP00000445117:V99A;ENSP00000414760:V158A	ENSP00000340770:V153A	V	-	2	0	GNE	36236171	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.584000	0.67490	2.204000	0.70986	0.383000	0.25322	GTG		0.483	GNE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052412.4	NM_005476		G	36246171	A	G	36246171	3	3	787	1	0	0	0	0	1	0	0	0	6524	159	6	3	1735	3	GNE	9	36246171	Missense_Mutation	SNP	A	TCGA-SX-A71W-01A-12D-A34Z-10		36246171	104967260	15	46758											
ZBTB5	9925	hgsc.bcm.edu	37	9	37442187	37442187	+	Missense_Mutation	SNP	G	G	T			TCGA-SX-A71W-01A-12D-A34Z-10	TCGA-SX-A71W-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39d5e130-8dd3-4884-81ca-045c8ae54290	365767f7-d1f9-4779-86a3-9b5ad8bbe963	g.chr9:37442187G>T	ENST00000307750.4	-	2	550	c.362C>A	c.(361-363)aCa>aAa	p.T121K		NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	121					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.T121K(1)		NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		CAGCGTCCTTGTCGTTAAGTA	0.532																																																1	Substitution - Missense(1)	ovary(1)											97	89	92					9																	37442187		2203	4300	6503	SO:0001583	missense	9925			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.362C>A	chr9.hg19:g.37442187G>T	ENSP00000307604:p.Thr121Lys			Missense_Mutation	SNP	ENST00000307750.4	hg19	CCDS6610.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.935859	0.73442	.	.	ENSG00000168795	ENST00000307750	T	0.65916	-0.18	5.54	5.54	0.83059	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.62925	0.2468	N	0.11427	0.14	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.57642	-0.7776	10	0.11794	T	0.64	.	19.6787	0.95950	0.0:0.0:1.0:0.0	.	121	O15062	ZBTB5_HUMAN	K	121	ENSP00000307604:T121K	ENSP00000307604:T121K	T	-	2	0	ZBTB5	37432187	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	7.211000	0.77933	2.884000	0.98904	0.655000	0.94253	ACA		0.532	ZBTB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052462.1	NM_014872		T	37442187	G	T	37442187	3	4	787	1	0	0	0	0	1	0	0	0	17556	1377	48	4	1675	4	ZBTB5	9	37442187	Missense_Mutation	SNP	G	TCGA-SX-A71W-01A-12D-A34Z-10	1196016	37442187	103771244	16	46759											
COL15A1	1306	hgsc.bcm.edu	37	9	101806896	101806896	+	Missense_Mutation	SNP	T	T	C			TCGA-SX-A71W-01A-12D-A34Z-10	TCGA-SX-A71W-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39d5e130-8dd3-4884-81ca-045c8ae54290	365767f7-d1f9-4779-86a3-9b5ad8bbe963	g.chr9:101806896T>C	ENST00000375001.3	+	25	3044	c.2621T>C	c.(2620-2622)cTg>cCg	p.L874P		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	874	Nonhelical region 5 (NC5).				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)				GACATTCCTCTGGAAAGGCTG	0.512																																																0													108	101	103					9																	101806896		2203	4300	6503	SO:0001583	missense	1306			L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2192	protein-coding gene	gene with protein product	"collagen type XV proteoglycan"	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.2621T>C	chr9.hg19:g.101806896T>C	ENSP00000364140:p.Leu874Pro		Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	hg19	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	T	12.61	1.991071	0.35131	.	.	ENSG00000204291	ENST00000375001	T	0.34472	1.36	4.99	4.99	0.66335	C-type lectin fold (1);	0.658378	0.14535	N	0.313620	T	0.39600	0.1084	N	0.12831	0.26	0.80722	D	1	D	0.71674	0.998	D	0.81914	0.995	T	0.13361	-1.0512	10	0.29301	T	0.29	-5.7456	11.3753	0.49724	0.0:0.0:0.0:1.0	.	874	P39059	COFA1_HUMAN	P	874	ENSP00000364140:L874P	ENSP00000364140:L874P	L	+	2	0	COL15A1	100846717	1.000000	0.71417	0.909000	0.35828	0.577000	0.36160	4.646000	0.61411	2.005000	0.58758	0.402000	0.26972	CTG		0.512	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		C	101806896	T	C	101806896	3	2	787	1	0	0	0	0	1	0	0	0	3674	1580	55	3	2719	3	COL15A1	9	101806896	Missense_Mutation	SNP	T	TCGA-SX-A71W-01A-12D-A34Z-10	64364709	101806896	39406535	17	46760											
HK1	3098	hgsc.bcm.edu	37	10	71160778	71160778	+	Missense_Mutation	SNP	G	G	A			TCGA-SX-A71W-01A-12D-A34Z-10	TCGA-SX-A71W-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39d5e130-8dd3-4884-81ca-045c8ae54290	365767f7-d1f9-4779-86a3-9b5ad8bbe963	g.chr10:71160778G>A	ENST00000359426.6	+	18	2745	c.2641G>A	c.(2641-2643)Gaa>Aaa	p.E881K	HK1_ENST00000448642.2_Missense_Mutation_p.E916K|HK1_ENST00000360289.2_Missense_Mutation_p.E869K|HK1_ENST00000404387.2_Missense_Mutation_p.E885K|HK1_ENST00000298649.3_Missense_Mutation_p.E880K	NM_000188.2	NP_000179.2	P19367	HXK1_HUMAN	hexokinase 1	881	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						GACGGTGAAGGAACTGTCACC	0.557																																																0													92	84	87					10																	71160778		2203	4300	6503	SO:0001583	missense	3098			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.2641G>A	chr10.hg19:g.71160778G>A	ENSP00000352398:p.Glu881Lys		E9PCK0|O43443|O43444|O75574|Q5VTC3|Q96HC8|Q9NNZ4|Q9NNZ5	Missense_Mutation	SNP	ENST00000359426.6	hg19	CCDS7292.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.850351	0.51270	.	.	ENSG00000156515	ENST00000360289;ENST00000448642;ENST00000404387;ENST00000298649;ENST00000359426;ENST00000405407	D;D;D;D;D	0.96396	-4.0;-4.0;-4.0;-4.0;-4.0	5.78	5.78	0.91487	Hexokinase, C-terminal (1);	0.132704	0.64402	D	0.000002	D	0.93598	0.7956	L	0.33668	1.02	0.58432	D	0.999999	B;B;B;B;B	0.10296	0.001;0.0;0.003;0.001;0.003	B;B;B;B;B	0.11329	0.005;0.003;0.006;0.005;0.002	D	0.88826	0.3302	10	0.23891	T	0.37	-29.3498	20.3681	0.98887	0.0:0.0:1.0:0.0	.	881;880;916;885;869	P19367;P19367-2;E7ENR4;P19367-3;P19367-4	HXK1_HUMAN;.;.;.;.	K	869;916;885;880;881;881	ENSP00000353433:E869K;ENSP00000402103:E916K;ENSP00000384774:E885K;ENSP00000298649:E880K;ENSP00000352398:E881K	ENSP00000298649:E880K	E	+	1	0	HK1	70830784	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.336000	0.65935	2.890000	0.99128	0.655000	0.94253	GAA		0.557	HK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048429.2	NM_000188		A	71160778	G	A	71160778	3	1	787	1	0	0	0	0	1	0	0	0	7192	1175	41	2	2889	2	HK1	10	71160778	Missense_Mutation	SNP	G	TCGA-SX-A71W-01A-12D-A34Z-10		71160778	64373969	18	46761											
C11orf24	53838	hgsc.bcm.edu	37	11	68030090	68030107	+	In_Frame_Del	DEL	TGGAGGCCGCAGTCGTAA	TGGAGGCCGCAGTCGTAA	-	rs199576193|rs201174414|rs201655090|rs373234316		TCGA-SX-A71W-01A-12D-A34Z-10	TCGA-SX-A71W-10A-01D-A34Z-10	TGGAGGCCGCAGTCGTAA	TGGAGGCCGCAGTCGTAA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39d5e130-8dd3-4884-81ca-045c8ae54290	365767f7-d1f9-4779-86a3-9b5ad8bbe963	g.chr11:68030090_68030107delTGGAGGCCGCAGTCGTAA	ENST00000304271.6	-	4	758_775	c.356_373delTTACGACTGCGGCCTCCA	c.(355-375)attacgactgcggcctccagt>agt	p.ITTAAS119del	C11orf24_ENST00000530166.1_5'UTR|C11orf24_ENST00000533310.1_Intron	NM_022338.3	NP_071733.1	Q96F05	CK024_HUMAN	chromosome 11 open reading frame 24	119						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)	13						ACAGTCATACTGGAGGCCGCAGTCGTAATGGAGGCCGC	0.601																																					NSCLC(21;855 905 4198 36694)											0																																										SO:0001651	inframe_deletion	53838			AF264781	CCDS8180.1, CCDS73338.1	11q13.2	2014-01-08			ENSG00000171067	ENSG00000171067			1174	protein-coding gene	gene with protein product		610880				11401438, 24312644	Standard	NM_022338		Approved	DM4E3	uc001onr.4	Q96F05	OTTHUMG00000167478	ENST00000304271.6:c.356_373delTTACGACTGCGGCCTCCA	chr11.hg19:g.68030090_68030107delTGGAGGCCGCAGTCGTAA	ENSP00000307264:p.Ile119_Ser124del		Q9H2K4	In_Frame_Del	DEL	ENST00000304271.6	hg19	CCDS8180.1																																																																																				0.601	C11orf24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394750.1	NM_022338		-	68030107	TGGAGGCCGCAGTCGTAA	-	68030090	7	5	787	1	0	1	0	1	0	0	0	0	1637	1580	55	0	980	0	C11orf24	11	68030090	In_Frame_Del	DEL	TGGAGGCCGCAGTCGTAA	TCGA-SX-A71W-01A-12D-A34Z-10		68030090	66976426	19	46762											
ZNF641	121274	hgsc.bcm.edu	37	12	48736774	48736774	+	Silent	SNP	T	T	C			TCGA-SX-A71W-01A-12D-A34Z-10	TCGA-SX-A71W-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39d5e130-8dd3-4884-81ca-045c8ae54290	365767f7-d1f9-4779-86a3-9b5ad8bbe963	g.chr12:48736774T>C	ENST00000544117.2	-	6	2007	c.1299A>G	c.(1297-1299)agA>agG	p.R433R	ZNF641_ENST00000448928.3_Silent_p.R410R|ZNF641_ENST00000547026.1_Silent_p.R419R|ZNF641_ENST00000301042.3_Silent_p.R433R			Q96N77	ZN641_HUMAN	zinc finger protein 641	433					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|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(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						CAGATGTTCCTCTGTCCCAGC	0.552																																																0													61	56	58					12																	48736774		2203	4300	6503	SO:0001819	synonymous_variant	121274			BC018090	CCDS8763.1, CCDS53787.1, CCDS53788.1	12q13.11	2013-01-08				ENSG00000167528		"Zinc fingers, C2H2-type", "-"	31834	protein-coding gene	gene with protein product		613906					Standard	NM_152320		Approved	FLJ31295	uc001rro.2	Q96N77		ENST00000544117.2:c.1299A>G	chr12.hg19:g.48736774T>C			B3KS43|B4DNU5|Q8TCQ7|Q8WVE1	Silent	SNP	ENST00000544117.2	hg19	CCDS8763.1																																																																																				0.552	ZNF641-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000406518.1	NM_152320		C	48736774	T	C	48736774	2	2	787	1	0	0	0	0	0	0	0	1	18062	1548	54	3		3	ZNF641	12	48736774	Silent	SNP	T	TCGA-SX-A71W-01A-12D-A34Z-10		48736774	85115121	20	46763											
GEFT	115557	hgsc.bcm.edu	37	12	58009666	58009666	+	Missense_Mutation	SNP	G	G	A			TCGA-SX-A71W-01A-12D-A34Z-10	TCGA-SX-A71W-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39d5e130-8dd3-4884-81ca-045c8ae54290	365767f7-d1f9-4779-86a3-9b5ad8bbe963	g.chr12:58009666G>A	ENST00000286494.4	+	13	1746	c.1286G>A	c.(1285-1287)cGc>cAc	p.R429H	ARHGEF25_ENST00000333972.7_Missense_Mutation_p.R468H|AC025165.8_ENST00000610219.1_RNA|AC025165.8_ENST00000593846.1_RNA|AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000444467.1_RNA	NM_182947.3	NP_891992	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	429	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					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						GACCCTTGCCGCTTTGCACTG	0.617																																																0													88	85	87					12																	58009666		2203	4300	6503	SO:0001583	missense	115557				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.1286G>A	chr12.hg19:g.58009666G>A	ENSP00000286494:p.Arg429His		A6NJH5|A9CQZ6|F8W7Z4|Q8WV84|Q96E63	Missense_Mutation	SNP	ENST00000286494.4	hg19	CCDS8947.1	.	.	.	.	.	.	.	.	.	.	g	15.84	2.951692	0.53186	.	.	ENSG00000240771	ENST00000333972;ENST00000286494	T;T	0.25414	1.8;1.8	4.91	4.91	0.64330	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.38111	N	0.001820	T	0.25457	0.0619	M	0.75447	2.3	0.54753	D	0.999988	P;P	0.51537	0.946;0.627	B;B	0.36666	0.23;0.116	T	0.13548	-1.0505	10	0.87932	D	0	.	9.3708	0.38252	0.0951:0.0:0.9049:0.0	.	468;429	F8W7Z4;Q86VW2	.;ARHGP_HUMAN	H	468;429	ENSP00000335560:R468H;ENSP00000286494:R429H	ENSP00000286494:R429H	R	+	2	0	ARHGEF25	56295933	0.993000	0.37304	1.000000	0.80357	0.997000	0.91878	2.702000	0.47102	2.724000	0.93272	0.561000	0.74099	CGC		0.617	ARHGEF25-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000326561.1	NM_133483		A	58009666	G	A	58009666	3	1	787	1	0	0	0	0	1	0	0	0	6330	1087	38	1	1558	1	GEFT	12	58009666	Missense_Mutation	SNP	G	TCGA-SX-A71W-01A-12D-A34Z-10	9272892	58009666	75842229	21	46764											
GRIP1	23426	hgsc.bcm.edu	37	12	66935595	66935595	+	Splice_Site	SNP	C	C	T			TCGA-SX-A71W-01A-12D-A34Z-10	TCGA-SX-A71W-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39d5e130-8dd3-4884-81ca-045c8ae54290	365767f7-d1f9-4779-86a3-9b5ad8bbe963	g.chr12:66935595C>T	ENST00000398016.3	-	3	340	c.272G>A	c.(271-273)aGa>aAa	p.R91K	GRIP1_ENST00000286445.7_Splice_Site_p.R91K|GRIP1_ENST00000359742.4_Splice_Site_p.R91K	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0	Galectin 1. {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)		AGGCAGTTACCTAGCAGCAAT	0.428																																																0													216	218	217					12																	66935595		1891	4124	6015	SO:0001630	splice_region_variant	23426			AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.272+1G>A	chr12.hg19:g.66935595C>T			B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	ENST00000398016.3	hg19	CCDS41807.1	.	.	.	.	.	.	.	.	.	.	C	36	5.600611	0.96614	.	.	ENSG00000155974	ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433;ENST00000536215;ENST00000545666;ENST00000542309;ENST00000539540;ENST00000541947	T;T;T;T;T;T;T;T;T;T	0.27256	1.68;1.68;1.68;1.68;1.68;1.68;1.68;1.68;1.68;1.68	5.36	5.36	0.76844	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.45397	0.1340	L	0.44542	1.39	0.80722	D	1	D;D;D	0.76494	0.994;0.999;0.994	D;D;D	0.87578	0.945;0.998;0.945	T	0.11155	-1.0599	9	.	.	.	-18.0174	19.4655	0.94935	0.0:1.0:0.0:0.0	.	91;91;91	F5H4N6;Q9Y3R0;Q9Y3R0-3	.;GRIP1_HUMAN;.	K	91;91;91;91;35;35;64;35;35;117	ENSP00000381098:R91K;ENSP00000352780:R91K;ENSP00000286445:R91K;ENSP00000446047:R91K;ENSP00000446024:R35K;ENSP00000446011:R35K;ENSP00000439124:R64K;ENSP00000438500:R35K;ENSP00000443392:R35K;ENSP00000438921:R117K	.	R	-	2	0	GRIP1	65221862	1.000000	0.71417	0.997000	0.53966	0.854000	0.48673	7.782000	0.85680	2.698000	0.92095	0.655000	0.94253	AGA		0.428	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2		Missense_Mutation	T	66935595	C	T	66935595	5	4	787	1	0	0	0	0	0	0	1	0	6789	695	24	2	3046	2	GRIP1	12	66935595	Splice_Site	SNP	C	TCGA-SX-A71W-01A-12D-A34Z-10	8925929	66935595	66916300	22	46765											
C14orf4	64207	hgsc.bcm.edu	37	14	77494080	77494080	+	Missense_Mutation	SNP	A	A	T			TCGA-SX-A71W-01A-12D-A34Z-10	TCGA-SX-A71W-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39d5e130-8dd3-4884-81ca-045c8ae54290	365767f7-d1f9-4779-86a3-9b5ad8bbe963	g.chr14:77494080A>T	ENST00000238647.3	-	1	954	c.56T>A	c.(55-57)cTg>cAg	p.L19Q		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	19					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						CATGCGGGGCAGGTCGCACAG	0.652																																																0													30	32	31					14																	77494080		2203	4298	6501	SO:0001583	missense	64207			AJ277365	CCDS9854.1	14q24.3	2011-02-23	2011-02-23	2011-02-23	ENSG00000119669	ENSG00000119669			14282	protein-coding gene	gene with protein product	"enhanced at puberty 1"	611720	"chromosome 14 open reading frame 4"	C14orf4		11095982, 17627301	Standard	NM_024496		Approved	EAP1, KIAA1865	uc001xsy.4	Q9H1B7		ENST00000238647.3:c.56T>A	chr14.hg19:g.77494080A>T	ENSP00000238647:p.Leu19Gln		Q8NDQ2|Q96JG2|Q9H3I7	Missense_Mutation	SNP	ENST00000238647.3	hg19	CCDS9854.1	.	.	.	.	.	.	.	.	.	.	A	17.31	3.356823	0.61293	.	.	ENSG00000119669	ENST00000238647	T	0.63913	-0.07	4.08	4.08	0.47627	Interferon regulatory factor 2-binding protein 1 &amp (1); 2, zinc finger (1);	0.116341	0.35615	U	0.003086	T	0.77465	0.4134	M	0.76328	2.33	0.54753	D	0.999988	D	0.89917	1.0	D	0.91635	0.999	T	0.80839	-0.1203	10	0.87932	D	0	-13.394	13.2324	0.59951	1.0:0.0:0.0:0.0	.	19	Q9H1B7	I2BPL_HUMAN	Q	19	ENSP00000238647:L19Q	ENSP00000238647:L19Q	L	-	2	0	IRF2BPL	76563833	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	8.305000	0.89960	1.708000	0.51301	0.260000	0.18958	CTG		0.652	IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414298.1	NM_024496		T	77494080	A	T	77494080	3	4	787	1	0	0	0	0	1	0	0	0	1775	188	7	5	2338	5	C14orf4	14	77494080	Missense_Mutation	SNP	A	TCGA-SX-A71W-01A-12D-A34Z-10		77494080	29855460	23	46766											
KIAA1409	57578	hgsc.bcm.edu	37	14	94060077	94060077	+	Frame_Shift_Del	DEL	C	C	-			TCGA-SX-A71W-01A-12D-A34Z-10	TCGA-SX-A71W-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39d5e130-8dd3-4884-81ca-045c8ae54290	365767f7-d1f9-4779-86a3-9b5ad8bbe963	g.chr14:94060077delC	ENST00000393151.2	+	23	3084	c.3084delC	c.(3082-3084)gtcfs	p.V1028fs	UNC79_ENST00000555664.1_Frame_Shift_Del_p.V1028fs|UNC79_ENST00000553484.1_Frame_Shift_Del_p.V1028fs|UNC79_ENST00000256339.4_Frame_Shift_Del_p.V851fs			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1028					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						CCCTGGCAGTCCCTCTTCTCC	0.483																																																0													253	214	228					14																	94060077		2203	4300	6503	SO:0001589	frameshift_variant	57578			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"KIAA1409"	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.3084delC	chr14.hg19:g.94060077delC	ENSP00000376858:p.Val1028fs		B5MDL6|Q6ZUT7	Frame_Shift_Del	DEL	ENST00000393151.2	hg19																																																																																					0.483	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		-	94060077	C	-	94060077	7	5	787	1	0	1	0	1	0	0	0	0	8232	842	30	0	2631	0	KIAA1409	14	94060077	Frame_Shift_Del	DEL	C	TCGA-SX-A71W-01A-12D-A34Z-10	16565997	94060077	13289463	24	46767											
KIAA1409	57578	hgsc.bcm.edu	37	14	94125586	94125586	+	Frame_Shift_Del	DEL	C	C	-			TCGA-SX-A71W-01A-12D-A34Z-10	TCGA-SX-A71W-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39d5e130-8dd3-4884-81ca-045c8ae54290	365767f7-d1f9-4779-86a3-9b5ad8bbe963	g.chr14:94125586delC	ENST00000393151.2	+	40	6621	c.6621delC	c.(6619-6621)atcfs	p.I2207fs	UNC79_ENST00000555664.1_Frame_Shift_Del_p.I2168fs|UNC79_ENST00000553484.1_Frame_Shift_Del_p.I2229fs|UNC79_ENST00000256339.4_Frame_Shift_Del_p.I2030fs			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2207					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						TCTTGAAGATCCCTTCTACCA	0.299																																																0													64	66	66					14																	94125586		2202	4298	6500	SO:0001589	frameshift_variant	57578			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"KIAA1409"	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.6621delC	chr14.hg19:g.94125586delC	ENSP00000376858:p.Ile2207fs		B5MDL6|Q6ZUT7	Frame_Shift_Del	DEL	ENST00000393151.2	hg19																																																																																					0.299	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		-	94125586	C	-	94125586	7	5	787	1	0	1	0	1	0	0	0	0	8232	845	30	0	6236	0	KIAA1409	14	94125586	Frame_Shift_Del	DEL	C	TCGA-SX-A71W-01A-12D-A34Z-10	65509	94125586	13223954	25	46768											
HHIPL1	84439	hgsc.bcm.edu	37	14	100118913	100118913	+	Frame_Shift_Del	DEL	G	G	-			TCGA-SX-A71W-01A-12D-A34Z-10	TCGA-SX-A71W-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39d5e130-8dd3-4884-81ca-045c8ae54290	365767f7-d1f9-4779-86a3-9b5ad8bbe963	g.chr14:100118913delG	ENST00000330710.5	+	2	706	c.608delG	c.(607-609)aggfs	p.R203fs	HHIPL1_ENST00000357223.2_Frame_Shift_Del_p.R203fs	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	203					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				GTCCATGCCAGGGATGGCACC	0.677																																																0													49	41	44					14																	100118913		2202	4299	6501	SO:0001589	frameshift_variant	84439			AB058725	CCDS9953.1, CCDS45162.1	14q32	2008-01-16	2008-01-16	2008-01-16		ENSG00000182218			19710	protein-coding gene	gene with protein product			"KIAA1822"	KIAA1822			Standard	NM_032425		Approved		uc010avs.3	Q96JK4		ENST00000330710.5:c.608delG	chr14.hg19:g.100118913delG	ENSP00000330601:p.Arg203fs		A2RUF8|B2RN09|Q6UXX2	Frame_Shift_Del	DEL	ENST00000330710.5	hg19	CCDS45162.1																																																																																				0.677	HHIPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413811.1	XM_041566		-	100118913	G	-	100118913	7	5	787	1	0	1	0	1	0	0	0	0	7095	1000	35	0	614	0	HHIPL1	14	100118913	Frame_Shift_Del	DEL	G	TCGA-SX-A71W-01A-12D-A34Z-10	5993327	100118913	7230627	26	46769											
GAA	2548	hgsc.bcm.edu	37	17	78085901	78085901	+	Splice_Site	SNP	T	T	G			TCGA-SX-A71W-01A-12D-A34Z-10	TCGA-SX-A71W-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39d5e130-8dd3-4884-81ca-045c8ae54290	365767f7-d1f9-4779-86a3-9b5ad8bbe963	g.chr17:78085901T>G	ENST00000302262.3	+	12	1973		c.e12+2		GAA_ENST00000390015.3_Splice_Site	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid						cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	CTCCCACAGGTGAGGGCCACG	0.652																																																0													101	85	90					17																	78085901		2203	4300	6503	SO:0001630	splice_region_variant	2548				CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"Pompe disease", "glycogen storage disease type II"	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.1754+2T>G	chr17.hg19:g.78085901T>G			Q09GN4|Q14351|Q16302|Q8IWE7	Splice_Site	SNP	ENST00000302262.3	hg19	CCDS32760.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.996347	0.74818	.	.	ENSG00000171298	ENST00000302262;ENST00000390015	.	.	.	4.65	4.65	0.58169	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7205	0.62723	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	GAA	75700496	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	7.203000	0.77864	1.716000	0.51395	0.533000	0.62120	.		0.652	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437441.1		Intron	G	78085901	T	G	78085901	5	3	787	1	0	0	0	0	0	0	1	0	6149	1710	59	5	1798	5	GAA	17	78085901	Splice_Site	SNP	T	TCGA-SX-A71W-01A-12D-A34Z-10		78085901	3109309	27	46770											
INO80C	125476	hgsc.bcm.edu	37	18	33077699	33077699	+	Missense_Mutation	SNP	G	G	A			TCGA-SX-A71W-01A-12D-A34Z-10	TCGA-SX-A71W-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39d5e130-8dd3-4884-81ca-045c8ae54290	365767f7-d1f9-4779-86a3-9b5ad8bbe963	g.chr18:33077699G>A	ENST00000334598.7	-	1	256	c.140C>T	c.(139-141)gCt>gTt	p.A47V	INO80C_ENST00000590757.1_Missense_Mutation_p.A47V|INO80C_ENST00000592173.1_Missense_Mutation_p.A47V|RP11-322E11.6_ENST00000589258.1_Missense_Mutation_p.A47V|INO80C_ENST00000586489.1_5'Flank|INO80C_ENST00000441607.2_Missense_Mutation_p.A47V	NM_194281.3	NP_919257.2	Q6PI98	IN80C_HUMAN	INO80 complex subunit C	47					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)				central_nervous_system(1)|endometrium(1)|lung(3)|prostate(2)|skin(1)	8						AAAGCTGGAAGCGGACGCTTT	0.667																																																0													22	23	23					18																	33077699		2203	4300	6503	SO:0001583	missense	125476				CCDS11914.1, CCDS45853.1	18q12.2	2011-07-06	2008-08-07	2008-08-07	ENSG00000153391	ENSG00000153391		"INO80 complex subunits"	26994	protein-coding gene	gene with protein product	"IES6 homolog (S. cerevisiae)"		"chromosome 18 open reading frame 37"	C18orf37		16230350	Standard	NM_001098817		Approved	FLJ38183, hIes6, IES6	uc010dmt.3	Q6PI98	OTTHUMG00000132564	ENST00000334598.7:c.140C>T	chr18.hg19:g.33077699G>A	ENSP00000334473:p.Ala47Val		B4DUI4|E9PCS7|Q86WR1|Q8N994	Missense_Mutation	SNP	ENST00000334598.7	hg19	CCDS11914.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.351758	0.41700	.	.	ENSG00000153391	ENST00000283410;ENST00000441607;ENST00000334598	.	.	.	4.37	0.0571	0.14322	.	0.677038	0.15251	N	0.272331	T	0.25494	0.0620	L	0.36672	1.1	0.09310	N	0.999995	B;B;B	0.32829	0.267;0.004;0.386	B;B;B	0.25140	0.041;0.015;0.058	T	0.22138	-1.0225	9	0.05620	T	0.96	.	13.8549	0.63519	0.0:0.6381:0.3619:0.0	.	47;47;47	E9PCS7;Q6PI98;Q6PI98-3	.;IN80C_HUMAN;.	V	47	.	ENSP00000283410:A47V	A	-	2	0	INO80C	31331697	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.555000	0.23422	-0.088000	0.12506	0.555000	0.69702	GCT		0.667	INO80C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255768.1	NM_194281		A	33077699	G	A	33077699	3	1	787	1	0	0	0	0	1	0	0	0	7750	971	34	2	574	2	INO80C	18	33077699	Missense_Mutation	SNP	G	TCGA-SX-A71W-01A-12D-A34Z-10		33077699	44999549	28	46771											
CNDP2	55748	hgsc.bcm.edu	37	18	72185851	72185851	+	Missense_Mutation	SNP	G	G	A			TCGA-SX-A71W-01A-12D-A34Z-10	TCGA-SX-A71W-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39d5e130-8dd3-4884-81ca-045c8ae54290	365767f7-d1f9-4779-86a3-9b5ad8bbe963	g.chr18:72185851G>A	ENST00000324262.4	+	10	1502	c.1186G>A	c.(1186-1188)Gct>Act	p.A396T	CNDP2_ENST00000579847.1_Missense_Mutation_p.A396T|CNDP2_ENST00000324301.8_Missense_Mutation_p.A312T	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	396					cellular nitrogen compound metabolic process (GO:0034641)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		TCATTACCTGGCTGGGAGAAG	0.572																																																0													105	99	101					18																	72185851		2203	4300	6503	SO:0001583	missense	55748			AK001692	CCDS12006.1, CCDS54190.1	18q22.3	2014-07-14	2004-07-12		ENSG00000133313	ENSG00000133313	3.4.13.18		24437	protein-coding gene	gene with protein product	"cytosolic nonspecific dipeptidase"	169800	"peptidase A"	PEPA		12473676	Standard	NM_018235		Approved	FLJ10830, CN2, HsT2298, CPGL	uc002llm.2	Q96KP4	OTTHUMG00000132853	ENST00000324262.4:c.1186G>A	chr18.hg19:g.72185851G>A	ENSP00000325548:p.Ala396Thr		B3KUG4|Q8WY59|Q9BQ94|Q9NVB4	Missense_Mutation	SNP	ENST00000324262.4	hg19	CCDS12006.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337023	0.81801	.	.	ENSG00000133313	ENST00000324262;ENST00000324301	T;T	0.56941	0.43;0.43	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.77745	0.4176	M	0.86740	2.835	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.76575	0.988;0.967	T	0.81488	-0.0910	10	0.87932	D	0	-18.9123	19.4462	0.94847	0.0:0.0:1.0:0.0	.	312;396	Q96KP4-2;Q96KP4	.;CNDP2_HUMAN	T	396;312	ENSP00000325548:A396T;ENSP00000325756:A312T	ENSP00000325548:A396T	A	+	1	0	CNDP2	70336831	1.000000	0.71417	0.710000	0.30468	0.041000	0.13682	9.618000	0.98365	2.595000	0.87683	0.650000	0.86243	GCT		0.572	CNDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256327.1	NM_018235		A	72185851	G	A	72185851	3	1	787	1	0	0	0	0	1	0	0	0	3596	1203	42	2	1220	2	CNDP2	18	72185851	Missense_Mutation	SNP	G	TCGA-SX-A71W-01A-12D-A34Z-10	39108152	72185851	5891397	29	46772											
FBXO46	23403	hgsc.bcm.edu	37	19	46216657	46216658	+	Missense_Mutation	DNP	TG	TG	CT			TCGA-SX-A71W-01A-12D-A34Z-10	TCGA-SX-A71W-10A-01D-A34Z-10	T|G	T|G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39d5e130-8dd3-4884-81ca-045c8ae54290	365767f7-d1f9-4779-86a3-9b5ad8bbe963	g.chr19:46216657_46216658TG>CT	ENST00000317683.3	-	2	229_230	c.96_97CA>AG	c.(94-99)ctCAag>ctAGag	p.K33E		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	33										breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		GCTGATGGCTTGAGGGCCGCAG	0.683																																																0																																										SO:0001583	missense	23403			BC021978	CCDS46116.1	19q13.3	2008-02-05	2004-06-15	2004-06-16		ENSG00000177051		"F-boxes /  "other""	25069	protein-coding gene	gene with protein product		609117	"F-box only protein 34-like"	FBXO34L		9585442	Standard	NM_001080469		Approved	20D7-FC4, Fbx46	uc002pcz.3	Q6PJ61		ENST00000317683.3:c.96_97delinsCT	chr19.hg19:g.46216657_46216658delinsCT	ENSP00000410007:p.Lys33Glu			Missense_Mutation|Silent	SNP	ENST00000317683.3	hg19	CCDS46116.1																																																																																				0.683	FBXO46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459661.1	XM_371179		CT	46216658	TG	CT	46216657	3	2	787	1	0	0	0	0	1	0	0	0	5757	1821	63	3	1718	3	FBXO46	19	46216657	Missense_Mutation	DNP	TG	TCGA-SX-A71W-01A-12D-A34Z-10		46216657	12912326	30	46773											
IRF2BP1	26145	hgsc.bcm.edu	37	19	46387535	46387535	+	Missense_Mutation	SNP	G	G	C			TCGA-SX-A71W-01A-12D-A34Z-10	TCGA-SX-A71W-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39d5e130-8dd3-4884-81ca-045c8ae54290	365767f7-d1f9-4779-86a3-9b5ad8bbe963	g.chr19:46387535G>C	ENST00000302165.3	-	1	1841	c.1498C>G	c.(1498-1500)Ccc>Gcc	p.P500A		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	500					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)			cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		CAGCACAGGGGGGCCCCAGGG	0.687																																																0													12	14	13					19																	46387535		2179	4270	6449	SO:0001583	missense	26145			AY278022	CCDS12678.1	19q13.32	2008-02-05							21728	protein-coding gene	gene with protein product		615331				12799427	Standard	NM_015649		Approved	DKFZP434M154, IRF-2BP1	uc002pds.1	Q8IU81		ENST00000302165.3:c.1498C>G	chr19.hg19:g.46387535G>C	ENSP00000307265:p.Pro500Ala		Q53EL7|Q6DC95|Q9BRZ9|Q9Y4P4	Missense_Mutation	SNP	ENST00000302165.3	hg19	CCDS12678.1	.	.	.	.	.	.	.	.	.	.	G	7.291	0.611129	0.14066	.	.	ENSG00000170604	ENST00000302165	T	0.47869	0.83	4.71	3.68	0.42216	.	0.199902	0.32343	N	0.006230	T	0.25344	0.0616	N	0.08118	0	0.40030	D	0.975524	B	0.29862	0.259	B	0.19666	0.026	T	0.14008	-1.0488	10	0.56958	D	0.05	.	10.6802	0.45811	0.0937:0.0:0.9063:0.0	.	500	Q8IU81	I2BP1_HUMAN	A	500	ENSP00000307265:P500A	ENSP00000307265:P500A	P	-	1	0	IRF2BP1	51079375	1.000000	0.71417	0.987000	0.45799	0.119000	0.20118	5.061000	0.64319	1.199000	0.43173	-0.140000	0.14226	CCC		0.687	IRF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461683.1	NM_015649		C	46387535	G	C	46387535	3	2	787	1	0	0	0	0	1	0	0	0	7831	1232	43	4	260	4	IRF2BP1	19	46387535	Missense_Mutation	SNP	G	TCGA-SX-A71W-01A-12D-A34Z-10	170878	46387535	12741448	31	46774											
HUWE1	10075	hgsc.bcm.edu	37	X	53565885	53565885	+	Missense_Mutation	SNP	G	G	A			TCGA-SX-A71W-01A-12D-A34Z-10	TCGA-SX-A71W-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39d5e130-8dd3-4884-81ca-045c8ae54290	365767f7-d1f9-4779-86a3-9b5ad8bbe963	g.chrX:53565885G>A	ENST00000342160.3	-	75	12246	c.11789C>T	c.(11788-11790)tCc>tTc	p.S3930F	HUWE1_ENST00000262854.6_Missense_Mutation_p.S3930F			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3930					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						TGGGTCAAGGGAGGAAGGCGT	0.602																																																0													75	52	60					X																	53565885		2203	4300	6503	SO:0001583	missense	10075			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.11789C>T	chrX.hg19:g.53565885G>A	ENSP00000340648:p.Ser3930Phe		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	hg19	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.472928	0.43942	.	.	ENSG00000086758	ENST00000342160;ENST00000262854	T;T	0.39592	1.07;1.07	5.62	5.62	0.85841	.	0.135606	0.51477	D	0.000092	T	0.51736	0.1692	L	0.43152	1.355	0.80722	D	1	B;P;D	0.57899	0.055;0.936;0.981	B;P;P	0.54706	0.031;0.578;0.759	T	0.54241	-0.8323	10	0.87932	D	0	.	17.2701	0.87098	0.0:0.0:1.0:0.0	.	752;3930;3914	Q5H935;Q7Z6Z7;Q7Z6Z7-2	.;HUWE1_HUMAN;.	F	3930	ENSP00000340648:S3930F;ENSP00000262854:S3930F	ENSP00000262854:S3930F	S	-	2	0	HUWE1	53582610	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.788000	0.91834	2.344000	0.79699	0.600000	0.82982	TCC		0.602	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		A	53565885	G	A	53565885	3	1	787	1	0	0	0	0	1	0	0	0	7463	1174	41	2	1371	2	HUWE1	23	53565885	Missense_Mutation	SNP	G	TCGA-SX-A71W-01A-12D-A34Z-10		53565885	101704675	32	46775											
TMEM52	339456	hgsc.bcm.edu	37	1	1849559	1849559	+	Missense_Mutation	SNP	A	A	G			TCGA-SX-A7SL-01A-11D-A34Z-10	TCGA-SX-A7SL-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e274845c-65ec-4db0-89f9-7d502ac2e427	e96052fd-169c-4e27-bd82-a5b6c796da53	g.chr1:1849559A>G	ENST00000310991.3	-	5	399	c.392T>C	c.(391-393)cTg>cCg	p.L131P	TMEM52_ENST00000378602.3_Missense_Mutation_p.L116P	NM_178545.3	NP_848640.1	Q8NDY8	TMM52_HUMAN	transmembrane protein 52	131						integral component of membrane (GO:0016021)				NS(1)|prostate(1)|stomach(1)	3	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)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CCCAAAGGGCAGGGGCAACCG	0.637																																																0													70	70	70					1																	1849559		2203	4300	6503	SO:0001583	missense	339456			AJ278736	CCDS35.1	1p36.33	2008-02-05			ENSG00000178821	ENSG00000178821			27916	protein-coding gene	gene with protein product							Standard	NM_178545		Approved		uc001aij.2	Q8NDY8	OTTHUMG00000000944	ENST00000310991.3:c.392T>C	chr1.hg19:g.1849559A>G	ENSP00000311122:p.Leu131Pro		Q4VXS6|Q6UX25	Missense_Mutation	SNP	ENST00000310991.3	hg19	CCDS35.1	.	.	.	.	.	.	.	.	.	.	.	11.55	1.671700	0.29693	.	.	ENSG00000178821	ENST00000378602;ENST00000310991	T;T	0.35789	1.29;1.29	3.12	3.12	0.35913	.	0.416227	0.16370	N	0.217372	T	0.46737	0.1408	L	0.44542	1.39	0.31254	N	0.693716	D;P	0.69078	0.997;0.772	D;P	0.66351	0.943;0.632	T	0.49133	-0.8971	10	0.51188	T	0.08	-0.8967	9.9579	0.41678	1.0:0.0:0.0:0.0	.	131;116	Q8NDY8;Q8NDY8-2	TMM52_HUMAN;.	P	116;131	ENSP00000367865:L116P;ENSP00000311122:L131P	ENSP00000311122:L131P	L	-	2	0	TMEM52	1839419	0.012000	0.17670	0.490000	0.27465	0.016000	0.09150	1.648000	0.37271	1.669000	0.50854	0.418000	0.28097	CTG		0.637	TMEM52-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000002781.1	NM_178545		G	1849559	A	G	1849559	3	3	788	1	0	0	0	0	1	0	0	0	16183	188	7	3	241	3	TMEM52	1	1849559	Missense_Mutation	SNP	A	TCGA-SX-A7SL-01A-11D-A34Z-10		1849559	247401062	1	46776											
EPHA8	2046	hgsc.bcm.edu	37	1	22903066	22903066	+	Silent	SNP	T	T	C	rs570237058		TCGA-SX-A7SL-01A-11D-A34Z-10	TCGA-SX-A7SL-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e274845c-65ec-4db0-89f9-7d502ac2e427	e96052fd-169c-4e27-bd82-a5b6c796da53	g.chr1:22903066T>C	ENST00000166244.3	+	3	588	c.516T>C	c.(514-516)agT>agC	p.S172S	EPHA8_ENST00000538803.1_Silent_p.S172S|EPHA8_ENST00000374644.4_Silent_p.S172S	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	172	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)			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)		AGGTGCGCAGTGTGGGTCCCC	0.592													T|||	1	0.000199681	0.0	0.0014	5008	,	,		17796	0.0		0.0	False		,,,				2504	0.0															0													90	79	83					1																	22903066		2203	4300	6503	SO:0001819	synonymous_variant	2046			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.516T>C	chr1.hg19:g.22903066T>C			Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Silent	SNP	ENST00000166244.3	hg19	CCDS225.1																																																																																				0.592	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		C	22903066	T	C	22903066	2	2	788	1	0	0	0	0	0	0	0	1	5175	1693	59	3		3	EPHA8	1	22903066	Silent	SNP	T	TCGA-SX-A7SL-01A-11D-A34Z-10	21053507	22903066	226347555	2	46777											
CDCP2	200008	hgsc.bcm.edu	37	1	54605763	54605763	+	Frame_Shift_Del	DEL	T	T	-			TCGA-SX-A7SL-01A-11D-A34Z-10	TCGA-SX-A7SL-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e274845c-65ec-4db0-89f9-7d502ac2e427	e96052fd-169c-4e27-bd82-a5b6c796da53	g.chr1:54605763delT	ENST00000371330.1	-	4	1627	c.780delA	c.(778-780)gtafs	p.V260fs	RP11-446E24.4_ENST00000525949.1_5'Flank|CDCP2_ENST00000530059.1_5'Flank	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	260	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						TGGCCATGTATACCTCCTGGC	0.612																																																0													41	32	35					1																	54605763		2143	4212	6355	SO:0001589	frameshift_variant	200008				CCDS588.2	1p32.3	2011-02-10			ENSG00000157211	ENSG00000157211			27297	protein-coding gene	gene with protein product		612320				12477932	Standard	NM_201546		Approved		uc001cwv.2	Q5VXM1	OTTHUMG00000155307	ENST00000371330.1:c.780delA	chr1.hg19:g.54605763delT	ENSP00000360381:p.Val260fs		Q6ZWJ3	Frame_Shift_Del	DEL	ENST00000371330.1	hg19	CCDS588.2																																																																																				0.612	CDCP2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000022209.2	NM_201546		-	54605763	T	-	54605763	7	5	788	1	0	1	0	1	0	0	0	0	3096	1393	49	0	573	0	CDCP2	1	54605763	Frame_Shift_Del	DEL	T	TCGA-SX-A7SL-01A-11D-A34Z-10	31702697	54605763	194644858	3	46778											
PEX11B	8799	hgsc.bcm.edu	37	1	145522603	145522603	+	Missense_Mutation	SNP	G	G	A	rs369527712		TCGA-SX-A7SL-01A-11D-A34Z-10	TCGA-SX-A7SL-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e274845c-65ec-4db0-89f9-7d502ac2e427	e96052fd-169c-4e27-bd82-a5b6c796da53	g.chr1:145522603G>A	ENST00000369306.3	+	4	613	c.464G>A	c.(463-465)cGg>cAg	p.R155Q	ITGA10_ENST00000538811.1_5'Flank|ITGA10_ENST00000539363.1_5'Flank|PEX11B_ENST00000537888.1_Missense_Mutation_p.R141Q|ITGA10_ENST00000369304.3_5'Flank	NM_003846.2	NP_003837.1	O96011	PX11B_HUMAN	peroxisomal biogenesis factor 11 beta	155					peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|protein homooligomerization (GO:0051260)|regulation of peroxisome size (GO:0044375)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCTTGTAGCCGGCGACTGAAA	0.532													G|||	1	0.000199681	0.0	0.0	5008	,	,		17434	0.001		0.0	False		,,,				2504	0.0															0								G	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	93	90	91		422,464	4.3	1	1		91	0,8600		0,0,4300	no	missense,missense	PEX11B	NM_001184795.1,NM_003846.2	43,43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	141/246,155/260	145522603	1,13005	2203	4300	6503	SO:0001583	missense	8799			AF093670	CCDS72870.1, CCDS72871.1	1q21	2008-08-26	2008-08-26		ENSG00000131779	ENSG00000131779			8853	protein-coding gene	gene with protein product		603867	"peroxisomal biogenesis factor 11B"			9792670	Standard	NM_003846		Approved		uc001eny.2	O96011	OTTHUMG00000013756	ENST00000369306.3:c.464G>A	chr1.hg19:g.145522603G>A	ENSP00000358312:p.Arg155Gln		B3KN85|B4DXH9|Q96ET2	Missense_Mutation	SNP	ENST00000369306.3	hg19	CCDS917.1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.939499	0.52972	2.27E-4	0.0	ENSG00000131779	ENST00000369306;ENST00000537888	T;T	0.41400	1.0;1.0	5.23	4.31	0.51392	.	0.261053	0.36932	N	0.002331	T	0.08223	0.0205	N	0.12182	0.205	0.33147	D	0.545202	P;P	0.47604	0.826;0.898	B;B	0.32533	0.142;0.147	T	0.07986	-1.0744	10	0.15952	T	0.53	-15.2013	12.9098	0.58173	0.0:0.0:0.8365:0.1635	.	141;155	B4DXH9;O96011	.;PX11B_HUMAN	Q	155;141	ENSP00000358312:R155Q;ENSP00000437510:R141Q	ENSP00000358312:R155Q	R	+	2	0	PEX11B	144233960	0.998000	0.40836	0.978000	0.43139	0.985000	0.73830	1.788000	0.38714	1.408000	0.46895	0.591000	0.81541	CGG		0.532	PEX11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038549.1	NM_003846		A	145522603	G	A	145522603	3	1	788	1	0	0	0	0	1	0	0	0	11740	1116	39	1	496	1	PEX11B	1	145522603	Missense_Mutation	SNP	G	TCGA-SX-A7SL-01A-11D-A34Z-10	90916840	145522603	103728018	4	46779											
LYST	1130	hgsc.bcm.edu	37	1	235904811	235904811	+	Missense_Mutation	SNP	C	C	T			TCGA-SX-A7SL-01A-11D-A34Z-10	TCGA-SX-A7SL-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e274845c-65ec-4db0-89f9-7d502ac2e427	e96052fd-169c-4e27-bd82-a5b6c796da53	g.chr1:235904811C>T	ENST00000389794.3	-	31	8443	c.8269G>A	c.(8269-8271)Gct>Act	p.A2757T	LYST_ENST00000389793.2_Missense_Mutation_p.A2757T			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2757					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)			TCTTGTGCAGCGTGGGCTGGC	0.438																																																0													175	154	161					1																	235904811		2203	4300	6503	SO:0001583	missense	1130			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.8269G>A	chr1.hg19:g.235904811C>T	ENSP00000374444:p.Ala2757Thr		O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	hg19	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	c	6.807	0.517876	0.13005	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.60920	0.15;0.15	5.63	-3.34	0.04943	.	0.354203	0.36972	N	0.002306	T	0.16342	0.0393	N	0.02011	-0.69	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34725	-0.9817	10	0.02654	T	1	.	1.3225	0.02119	0.3033:0.0855:0.2092:0.4021	.	2757	Q99698	LYST_HUMAN	T	2757	ENSP00000374444:A2757T;ENSP00000374443:A2757T	ENSP00000374443:A2757T	A	-	1	0	LYST	233971434	0.822000	0.29219	0.952000	0.39060	0.141000	0.21300	0.448000	0.21726	-0.670000	0.05282	-1.158000	0.01797	GCT		0.438	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			T	235904811	C	T	235904811	3	4	788	1	0	0	0	0	1	0	0	0	9130	768	27	1	3228	1	LYST	1	235904811	Missense_Mutation	SNP	C	TCGA-SX-A7SL-01A-11D-A34Z-10	90382208	235904811	13345810	5	46780											
OR2M4	26245	hgsc.bcm.edu	37	1	248402822	248402822	+	Missense_Mutation	SNP	C	C	G			TCGA-SX-A7SL-01A-11D-A34Z-10	TCGA-SX-A7SL-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e274845c-65ec-4db0-89f9-7d502ac2e427	e96052fd-169c-4e27-bd82-a5b6c796da53	g.chr1:248402822C>G	ENST00000306687.1	+	1	592	c.592C>G	c.(592-594)Cta>Gta	p.L198V		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	198					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(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	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)			ATTTGAAAGACTACTTGTCAT	0.418																																																0													126	125	125					1																	248402822		2203	4300	6503	SO:0001583	missense	26245			X64992	CCDS31108.1	1q44	2012-08-09			ENSG00000171180	ENSG00000171180		"GPCR / Class A : Olfactory receptors"	8270	protein-coding gene	gene with protein product						1370859, 9119360	Standard	NM_017504		Approved	HTPCRX18, TPCR100, HSHTPCRX18, OST710	uc010pzh.2	Q96R27	OTTHUMG00000040456	ENST00000306687.1:c.592C>G	chr1.hg19:g.248402822C>G	ENSP00000306688:p.Leu198Val		Q15611|Q8NG82	Missense_Mutation	SNP	ENST00000306687.1	hg19	CCDS31108.1	.	.	.	.	.	.	.	.	.	.	c	0.004	-2.358263	0.00214	.	.	ENSG00000171180	ENST00000306687	T	0.37915	1.17	3.34	-3.45	0.04781	GPCR, rhodopsin-like superfamily (1);	5.055650	0.00963	N	0.003125	T	0.13970	0.0338	N	0.05619	-0.005	0.09310	N	1	B	0.13594	0.008	B	0.23150	0.044	T	0.16837	-1.0389	10	0.05351	T	0.99	.	0.5132	0.00599	0.3604:0.1921:0.2485:0.199	.	198	Q96R27	OR2M4_HUMAN	V	198	ENSP00000306688:L198V	ENSP00000306688:L198V	L	+	1	2	OR2M4	246469445	0.000000	0.05858	0.001000	0.08648	0.512000	0.34134	-2.918000	0.00695	-0.440000	0.07211	0.543000	0.68304	CTA		0.418	OR2M4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097352.1	NM_017504		G	248402822	C	G	248402822	3	3	788	1	0	0	0	0	1	0	0	0	11014	564	20	4	594	4	OR2M4	1	248402822	Missense_Mutation	SNP	C	TCGA-SX-A7SL-01A-11D-A34Z-10	12498011	248402822	847799	6	46781											
PXDN	7837	hgsc.bcm.edu	37	2	1687921	1687921	+	Missense_Mutation	SNP	T	T	C			TCGA-SX-A7SL-01A-11D-A34Z-10	TCGA-SX-A7SL-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e274845c-65ec-4db0-89f9-7d502ac2e427	e96052fd-169c-4e27-bd82-a5b6c796da53	g.chr2:1687921T>C	ENST00000252804.4	-	5	469	c.419A>G	c.(418-420)tAc>tGc	p.Y140C		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	140					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)		AAAGTGCAGGTATCTAGAGGA	0.363																																																0													37	38	38					2																	1687921		1825	4074	5899	SO:0001583	missense	7837			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"Immunoglobulin superfamily / I-set domain containing"	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.419A>G	chr2.hg19:g.1687921T>C	ENSP00000252804:p.Tyr140Cys		A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	hg19	CCDS46221.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	19.69|19.69|19.69	3.873824|3.873824|3.873824	0.72180|0.72180|0.72180	.|.|.	.|.|.	ENSG00000130508|ENSG00000130508|ENSG00000130508	ENST00000447941|ENST00000433670|ENST00000252804;ENST00000425171	.|.|T;T	.|.|0.58506	.|.|0.33;0.99	5.72|5.72|5.72	5.72|5.72|5.72	0.89469|0.89469|0.89469	.|.|.	.|.|0.000000	.|.|0.85682	.|.|D	.|.|0.000000	T|T|T	0.73822|0.73822|0.73822	0.3636|0.3636|0.3636	M|M|M	0.64404|0.64404|0.64404	1.975|1.975|1.975	0.54753|0.54753|0.54753	D|D|D	0.999988|0.999988|0.999988	.|.|D;D	.|.|0.76494	.|.|0.999;0.995	.|.|D;D	.|.|0.76575	.|.|0.988;0.972	T|T|T	0.76637|0.76637|0.76637	-0.2886|-0.2886|-0.2886	5|5|10	.|.|0.87932	.|.|D	.|.|0	-57.8067|-57.8067|-57.8067	15.9741|15.9741|15.9741	0.80044|0.80044|0.80044	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.|.	.|.|140;140	.|.|Q92626-2;Q92626	.|.|.;PXDN_HUMAN	M|A|C	63|136|140;116	.|.|ENSP00000252804:Y140C;ENSP00000398363:Y116C	.|.|ENSP00000252804:Y140C	I|T|Y	-|-|-	3|1|2	3|0|0	PXDN|PXDN|PXDN	1666928|1666928|1666928	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.704000|0.704000|0.704000	0.40688|0.40688|0.40688	7.883000|7.883000|7.883000	0.87264|0.87264|0.87264	2.169000|2.169000|2.169000	0.68431|0.68431|0.68431	0.460000|0.460000|0.460000	0.39030|0.39030|0.39030	ATA|ACC|TAC		0.363	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		C	1687921	T	C	1687921	3	2	788	1	0	0	0	0	1	0	0	0	12853	1638	57	3	4096	3	PXDN	2	1687921	Missense_Mutation	SNP	T	TCGA-SX-A7SL-01A-11D-A34Z-10		1687921	241511452	7	46782											
WDR35	57539	hgsc.bcm.edu	37	2	20113904	20113904	+	Frame_Shift_Del	DEL	G	G	-			TCGA-SX-A7SL-01A-11D-A34Z-10	TCGA-SX-A7SL-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e274845c-65ec-4db0-89f9-7d502ac2e427	e96052fd-169c-4e27-bd82-a5b6c796da53	g.chr2:20113904delG	ENST00000345530.3	-	27	3404	c.3289delC	c.(3289-3291)ctcfs	p.L1097fs	WDR35_ENST00000416055.2_Intron|WDR35_ENST00000281405.4_Frame_Shift_Del_p.L1086fs	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	1097					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)				breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTGAACTGAGGGTCTCTAAA	0.413																																																0													120	121	121					2																	20113904		2203	4300	6503	SO:0001589	frameshift_variant	57539			AB037757	CCDS1695.1, CCDS33152.1	2p24.3	2014-02-21			ENSG00000118965	ENSG00000118965		"WD repeat domain containing", "Intraflagellar transport homologs"	29250	protein-coding gene	gene with protein product		613602				10718198	Standard	NM_001006657		Approved	MGC33196, KIAA1336, IFT121, IFTA1	uc002rdi.3	Q9P2L0	OTTHUMG00000090737	ENST00000345530.3:c.3289delC	chr2.hg19:g.20113904delG	ENSP00000314444:p.Leu1097fs		B3KVI5|Q4ZG01|Q8NE11	Frame_Shift_Del	DEL	ENST00000345530.3	hg19	CCDS33152.1																																																																																				0.413	WDR35-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000207472.2	NM_020779		-	20113904	G	-	20113904	7	5	788	1	0	1	0	1	0	0	0	0	17294	1000	35	0	264	0	WDR35	2	20113904	Frame_Shift_Del	DEL	G	TCGA-SX-A7SL-01A-11D-A34Z-10	18425983	20113904	223085469	8	46783											
PUM2	23369	hgsc.bcm.edu	37	2	20483190	20483190	+	Missense_Mutation	SNP	C	C	T			TCGA-SX-A7SL-01A-11D-A34Z-10	TCGA-SX-A7SL-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e274845c-65ec-4db0-89f9-7d502ac2e427	e96052fd-169c-4e27-bd82-a5b6c796da53	g.chr2:20483190C>T	ENST00000361078.2	-	10	1371	c.1349G>A	c.(1348-1350)gGc>gAc	p.G450D	PUM2_ENST00000403432.1_Missense_Mutation_p.G450D|PUM2_ENST00000338086.5_Missense_Mutation_p.G450D|PUM2_ENST00000319801.5_Missense_Mutation_p.G450D|PUM2_ENST00000536417.1_Missense_Mutation_p.G394D			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	450	Ala-rich.				regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCTCCAGGGCCAACCACTAA	0.428																																																0													92	91	92					2																	20483190		2203	4300	6503	SO:0001583	missense	23369			AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"pumilio (Drosphila) homolog 2", "pumilio homolog 2 (Drosophila)"			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.1349G>A	chr2.hg19:g.20483190C>T	ENSP00000354370:p.Gly450Asp		B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Missense_Mutation	SNP	ENST00000361078.2	hg19		.	.	.	.	.	.	.	.	.	.	C	25.8	4.679173	0.88542	.	.	ENSG00000055917	ENST00000338086;ENST00000361078;ENST00000319801;ENST00000440577;ENST00000403432;ENST00000536417	T;T;T;T;T;T	0.24908	1.84;2.11;2.18;1.92;1.84;1.83	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.36608	0.0973	L	0.55481	1.735	0.80722	D	1	P;P;P	0.50066	0.752;0.931;0.721	P;P;P	0.47673	0.507;0.554;0.46	T	0.00768	-1.1574	10	0.34782	T	0.22	-7.7954	20.8598	0.99761	0.0:1.0:0.0:0.0	.	394;450;450	B4E2B6;B7ZL34;Q8TB72-3	.;.;.	D	450;450;450;341;450;394	ENSP00000338173:G450D;ENSP00000354370:G450D;ENSP00000326746:G450D;ENSP00000409905:G341D;ENSP00000385992:G450D;ENSP00000440093:G394D	ENSP00000326746:G450D	G	-	2	0	PUM2	20346671	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.927000	0.63440	2.937000	0.99478	0.650000	0.86243	GGC		0.428	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015317		T	20483190	C	T	20483190	3	4	788	1	0	0	0	0	1	0	0	0	12832	739	26	2	1889	2	PUM2	2	20483190	Missense_Mutation	SNP	C	TCGA-SX-A7SL-01A-11D-A34Z-10	369286	20483190	222716183	9	46784											
PPM1G	5496	hgsc.bcm.edu	37	2	27604506	27604506	+	Frame_Shift_Del	DEL	T	T	-			TCGA-SX-A7SL-01A-11D-A34Z-10	TCGA-SX-A7SL-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e274845c-65ec-4db0-89f9-7d502ac2e427	e96052fd-169c-4e27-bd82-a5b6c796da53	g.chr2:27604506delT	ENST00000344034.4	-	10	1865	c.1601delA	c.(1600-1602)aatfs	p.N534fs	ZNF513_ENST00000323703.6_5'Flank|ZNF513_ENST00000491924.1_5'Flank|PPM1G_ENST00000350803.4_Frame_Shift_Del_p.N534fs|ZNF513_ENST00000407879.1_5'Flank	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1G	534					cell cycle arrest (GO:0007050)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					GCTGTTGCCATTTTCTTCAGC	0.537																																																0													250	237	241					2																	27604506		2203	4300	6503	SO:0001589	frameshift_variant	5496			Y13936	CCDS1752.1	2p23.3	2012-04-17	2010-03-05		ENSG00000115241	ENSG00000115241	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	9278	protein-coding gene	gene with protein product	"PP2C, gamma", "protein phosphatase 2C, gamma isoform"	605119	"protein phosphatase 1G (formerly 2C), magnesium-dependent, gamma isoform"			9276438	Standard	NM_177983		Approved	PP2CG, PP2Cgamma	uc002rkl.4	O15355	OTTHUMG00000097788	ENST00000344034.4:c.1601delA	chr2.hg19:g.27604506delT	ENSP00000342778:p.Asn534fs			Frame_Shift_Del	DEL	ENST00000344034.4	hg19	CCDS1752.1																																																																																				0.537	PPM1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215032.1	NM_002707		-	27604506	T	-	27604506	7	5	788	1	0	1	0	1	0	0	0	0	12345	1493	52	0	43	0	PPM1G	2	27604506	Frame_Shift_Del	DEL	T	TCGA-SX-A7SL-01A-11D-A34Z-10	7121316	27604506	215594867	10	46785											
CLIP4	79745	hgsc.bcm.edu	37	2	29404714	29404714	+	Silent	SNP	C	C	A			TCGA-SX-A7SL-01A-11D-A34Z-10	TCGA-SX-A7SL-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e274845c-65ec-4db0-89f9-7d502ac2e427	e96052fd-169c-4e27-bd82-a5b6c796da53	g.chr2:29404714C>A	ENST00000320081.5	+	16	2328	c.2073C>A	c.(2071-2073)acC>acA	p.T691T	CLIP4_ENST00000404424.1_Silent_p.T691T|CLIP4_ENST00000401617.2_Intron	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	691										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					GCAGAGTGACCTATCGGGGAA	0.403																																																0													99	100	100					2																	29404714		2203	4300	6503	SO:0001819	synonymous_variant	79745			AK024722	CCDS1770.1, CCDS74502.1	2p23	2013-01-10	2007-01-04	2007-01-04	ENSG00000115295	ENSG00000115295		"Ankyrin repeat domain containing"	26108	protein-coding gene	gene with protein product			"restin-like 2"	RSNL2			Standard	XM_005264562		Approved	FLJ21069	uc002rmv.3	Q8N3C7	OTTHUMG00000097837	ENST00000320081.5:c.2073C>A	chr2.hg19:g.29404714C>A			A0AV10|B2RMQ3|B7Z7N8|Q7Z4U3|Q96BR7|Q96MA5|Q9H7C0	Silent	SNP	ENST00000320081.5	hg19	CCDS1770.1																																																																																				0.403	CLIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215123.2	NM_024692		A	29404714	C	A	29404714	2	1	788	1	0	0	0	0	0	0	0	1	3537	668	24	4		4	CLIP4	2	29404714	Silent	SNP	C	TCGA-SX-A7SL-01A-11D-A34Z-10	1800208	29404714	213794659	11	46786											
BIRC6	57448	hgsc.bcm.edu	37	2	32640306	32640306	+	Missense_Mutation	SNP	G	G	T			TCGA-SX-A7SL-01A-11D-A34Z-10	TCGA-SX-A7SL-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e274845c-65ec-4db0-89f9-7d502ac2e427	e96052fd-169c-4e27-bd82-a5b6c796da53	g.chr2:32640306G>T	ENST00000421745.2	+	10	2081	c.1947G>T	c.(1945-1947)atG>atT	p.M649I		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	649					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)	p.M649I(1)|p.M621I(1)		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)					TTTCACAGATGAACAATATTA	0.378																																					Pancreas(94;175 1509 16028 18060 45422)											2	Substitution - Missense(2)	lung(2)											75	74	74					2																	32640306		2203	4300	6503	SO:0001583	missense	57448			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"Baculoviral IAP repeat containing", "Ubiquitin-conjugating enzymes E2"	13516	protein-coding gene	gene with protein product	"apollon"	605638	"baculoviral IAP repeat-containing 6"			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.1947G>T	chr2.hg19:g.32640306G>T	ENSP00000393596:p.Met649Ile		Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	hg19	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	15.54	2.862687	0.51482	.	.	ENSG00000115760	ENST00000421745	T	0.74737	-0.87	5.56	5.56	0.83823	.	0.087525	0.85682	D	0.000000	T	0.64461	0.2600	N	0.24115	0.695	0.58432	D	0.999999	B	0.06786	0.001	B	0.08055	0.003	T	0.56571	-0.7957	10	0.26408	T	0.33	.	19.8856	0.96911	0.0:0.0:1.0:0.0	.	649	Q9NR09	BIRC6_HUMAN	I	649	ENSP00000393596:M649I	ENSP00000393596:M649I	M	+	3	0	BIRC6	32493810	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.506000	0.97992	2.771000	0.95319	0.650000	0.86243	ATG		0.378	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		T	32640306	G	T	32640306	3	4	788	1	0	0	0	0	1	0	0	0	1438	1290	45	4	1985	4	BIRC6	2	32640306	Missense_Mutation	SNP	G	TCGA-SX-A7SL-01A-11D-A34Z-10	3235592	32640306	210559067	12	46787											
C2orf3	6936	hgsc.bcm.edu	37	2	75907421	75907421	+	Missense_Mutation	SNP	C	C	A			TCGA-SX-A7SL-01A-11D-A34Z-10	TCGA-SX-A7SL-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e274845c-65ec-4db0-89f9-7d502ac2e427	e96052fd-169c-4e27-bd82-a5b6c796da53	g.chr2:75907421C>A	ENST00000321027.3	-	12	1843	c.1710G>T	c.(1708-1710)tgG>tgT	p.W570C	GCFC2_ENST00000541687.1_3'UTR|MRPL19_ENST00000358788.6_Intron|GCFC2_ENST00000409857.3_Missense_Mutation_p.W532C	NM_001201334.1|NM_003203.4	NP_001188263.1|NP_003194.3	P16383	GCFC2_HUMAN	GC-rich sequence DNA-binding factor 2	570					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)										ACAAAGGATCCCAAAGGAATT	0.323																																																0													102	106	104					2																	75907421		2203	4299	6502	SO:0001583	missense	6936			AB026911	CCDS1961.1, CCDS62943.1	2p12	2014-01-17	2011-11-24	2011-11-24	ENSG00000005436	ENSG00000005436			1317	protein-coding gene	gene with protein product	"GC binding factor"	189901	"transcription factor 9 (binds GC-rich sequences)", "chromosome 2 open reading frame 3"	TCF9, C2orf3		1370479, 2556218, 17309879, 24304693	Standard	NM_003203		Approved	DNABF, GCF	uc002sno.3	P16383	OTTHUMG00000129989	ENST00000321027.3:c.1710G>T	chr2.hg19:g.75907421C>A	ENSP00000318690:p.Trp570Cys		A4UHQ8|O95032|Q53TY0|Q6P2F2	Missense_Mutation	SNP	ENST00000321027.3	hg19	CCDS1961.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.804904	0.70682	.	.	ENSG00000005436	ENST00000321027;ENST00000409857	T;T	0.68479	-0.33;-0.33	5.42	5.42	0.78866	GC-rich sequence DNA-binding factor domain (1);	0.000000	0.85682	D	0.000000	D	0.84772	0.5546	M	0.88310	2.945	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87287	0.2296	10	0.87932	D	0	-7.8026	17.0811	0.86599	0.0:1.0:0.0:0.0	.	570	P16383	GCF_HUMAN	C	570;532	ENSP00000318690:W570C;ENSP00000386552:W532C	ENSP00000318690:W570C	W	-	3	0	C2orf3	75760929	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.129000	0.71657	2.722000	0.93159	0.650000	0.86243	TGG		0.323	GCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252255.2	NM_003203		A	75907421	C	A	75907421	3	1	788	1	0	0	0	0	1	0	0	0	2164	624	22	4	659	4	C2orf3	2	75907421	Missense_Mutation	SNP	C	TCGA-SX-A7SL-01A-11D-A34Z-10	43267115	75907421	167291952	13	46788											
CCDC141	285025	hgsc.bcm.edu	37	2	179720165	179720165	+	Nonsense_Mutation	SNP	A	A	T			TCGA-SX-A7SL-01A-11D-A34Z-10	TCGA-SX-A7SL-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e274845c-65ec-4db0-89f9-7d502ac2e427	e96052fd-169c-4e27-bd82-a5b6c796da53	g.chr2:179720165A>T	ENST00000420890.2	-	19	3086	c.2969T>A	c.(2968-2970)tTg>tAg	p.L990*	CCDC141_ENST00000295723.5_Nonsense_Mutation_p.L415*	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	990										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)			ATGTTTTTGCAAATCCTTCAT	0.338																																																0													123	120	121					2																	179720165		2203	4300	6503	SO:0001587	stop_gained	285025			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.2969T>A	chr2.hg19:g.179720165A>T	ENSP00000395995:p.Leu990*		H7C0P1|J3KNW6|Q8N8H3	Nonsense_Mutation	SNP	ENST00000420890.2	hg19		.	.	.	.	.	.	.	.	.	.	A	36	5.972060	0.97162	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723	.	.	.	4.99	4.99	0.66335	.	0.000000	0.41712	D	0.000821	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.431	15.0074	0.71524	1.0:0.0:0.0:0.0	.	.	.	.	X	990;434;415	.	ENSP00000295723:L415X	L	-	2	0	CCDC141	179428410	1.000000	0.71417	0.990000	0.47175	0.209000	0.24338	7.831000	0.86748	1.993000	0.58246	0.533000	0.62120	TTG		0.338	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648		T	179720165	A	T	179720165	4	4	788	1	0	0	0	0	0	1	0	0	2777	131	5	5	1403	5	CCDC141	2	179720165	Nonsense_Mutation	SNP	A	TCGA-SX-A7SL-01A-11D-A34Z-10	103812744	179720165	63479208	14	46789											
ABI2	10152	hgsc.bcm.edu	37	2	204267454	204267454	+	Missense_Mutation	SNP	C	C	G			TCGA-SX-A7SL-01A-11D-A34Z-10	TCGA-SX-A7SL-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e274845c-65ec-4db0-89f9-7d502ac2e427	e96052fd-169c-4e27-bd82-a5b6c796da53	g.chr2:204267454C>G	ENST00000422511.2	+	9	1121	c.1090C>G	c.(1090-1092)Cca>Gca	p.P364A	ABI2_ENST00000261018.7_Missense_Mutation_p.P183A|ABI2_ENST00000261016.6_Missense_Mutation_p.P285A|RAPH1_ENST00000457812.1_Intron|ABI2_ENST00000424558.1_Missense_Mutation_p.P391A|ABI2_ENST00000295851.5_Missense_Mutation_p.P397A|ABI2_ENST00000261017.5_Missense_Mutation_p.P330A|ABI2_ENST00000430574.1_3'UTR|ABI2_ENST00000430418.1_Missense_Mutation_p.P342A			Q9NYB9	ABI2_HUMAN	abl-interactor 2	397	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						TAGCCAGAATCCAGGTTAGTT	0.368																																																0													98	96	97					2																	204267454		2203	4300	6503	SO:0001583	missense	10152			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.1090C>G	chr2.hg19:g.204267454C>G	ENSP00000396249:p.Pro364Ala		B4DSN1|Q13147|Q13249|Q13801|Q9BV70	Missense_Mutation	SNP	ENST00000422511.2	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.94|18.94	3.730696|3.730696	0.69074|0.69074	.|.	.|.	ENSG00000138443|ENSG00000138443	ENST00000451591;ENST00000454023|ENST00000295851;ENST00000261017;ENST00000430418;ENST00000424558;ENST00000261016;ENST00000417864;ENST00000422511;ENST00000261018	.|T;T;T;T;T;T;T;T	.|0.41400	.|1.2;1.22;1.35;1.21;1.03;1.51;1.18;1.0	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	.|0.203600	.|0.52532	.|D	.|0.000061	T|T	0.22003|0.22003	0.0530|0.0530	N|N	0.02539|0.02539	-0.55|-0.55	0.80722|0.80722	D|D	1|1	.|B;P;P;B;P;P;P;B;B	.|0.41131	.|0.439;0.58;0.524;0.212;0.525;0.646;0.739;0.39;0.051	.|B;B;B;B;B;B;B;B;B	.|0.36666	.|0.23;0.184;0.095;0.094;0.115;0.124;0.225;0.054;0.097	T|T	0.25882|0.25882	-1.0119|-1.0119	5|10	.|0.49607	.|T	.|0.09	-8.0595|-8.0595	17.8057|17.8057	0.88600|0.88600	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|183;232;122;274;391;342;285;397;330	.|B7Z5L1;B7Z612;B4DMM5;B7Z836;Q9NYB9-4;E9PEZ7;Q9NYB9-3;Q9NYB9;Q9NYB9-2	.|.;.;.;.;.;.;.;ABI2_HUMAN;.	M|A	200;176|397;330;342;391;285;397;364;183	.|ENSP00000295851:P397A;ENSP00000261017:P330A;ENSP00000408898:P342A;ENSP00000391433:P391A;ENSP00000261016:P285A;ENSP00000414703:P397A;ENSP00000396249:P364A;ENSP00000261018:P183A	.|ENSP00000261016:P285A	I|P	+|+	3|1	3|0	ABI2|ABI2	203975699|203975699	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	7.263000|7.263000	0.78421|0.78421	2.636000|2.636000	0.89361|0.89361	0.655000|0.655000	0.94253|0.94253	ATC|CCA		0.368	ABI2-007	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000336179.2	NM_005759		G	204267454	C	G	204267454	3	3	788	1	0	0	0	0	1	0	0	0	89	855	30	4	1014	4	ABI2	2	204267454	Missense_Mutation	SNP	C	TCGA-SX-A7SL-01A-11D-A34Z-10	24547289	204267454	38931919	15	46790											
MTMR14	64419	hgsc.bcm.edu	37	3	9730673	9730673	+	Frame_Shift_Del	DEL	C	C	-			TCGA-SX-A7SL-01A-11D-A34Z-10	TCGA-SX-A7SL-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e274845c-65ec-4db0-89f9-7d502ac2e427	e96052fd-169c-4e27-bd82-a5b6c796da53	g.chr3:9730673delC	ENST00000296003.4	+	16	1462	c.1340delC	c.(1339-1341)tccfs	p.S447fs	MTMR14_ENST00000353332.5_Frame_Shift_Del_p.S447fs|MTMR14_ENST00000351233.5_Frame_Shift_Del_p.S447fs|MTMR14_ENST00000420925.1_Frame_Shift_Del_p.S201fs	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	447					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)					AGCGACTTCTCCCTGGTCATG	0.602																																																0													48	53	51					3																	9730673		2079	4221	6300	SO:0001589	frameshift_variant	64419			BC001674	CCDS43043.1, CCDS43044.1, CCDS43045.1	3p26	2011-06-09	2006-12-18	2006-12-18	ENSG00000163719	ENSG00000163719		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	26190	protein-coding gene	gene with protein product	"egg-derived tyrosine phosphatase homolog (Drosophila)"	611089	"chromosome 3 open reading frame 29"	C3orf29		15186772	Standard	NM_022485		Approved	FLJ22405, FLJ90311, hJumpy, hEDTP	uc003brz.3	Q8NCE2	OTTHUMG00000155111	ENST00000296003.4:c.1340delC	chr3.hg19:g.9730673delC	ENSP00000296003:p.Ser447fs		Q0JTH5|Q0JU83|Q6PIZ4|Q6QE21|Q86VK9|Q8IYK1|Q8TCM7|Q9H6C0	Frame_Shift_Del	DEL	ENST00000296003.4	hg19	CCDS43043.1																																																																																				0.602	MTMR14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338435.1	NM_022485		-	9730673	C	-	9730673	7	5	788	1	0	1	0	1	0	0	0	0	9944	855	30	0	1402	0	MTMR14	3	9730673	Frame_Shift_Del	DEL	C	TCGA-SX-A7SL-01A-11D-A34Z-10		9730673	188291757	16	46791											
ATP2B2	491	hgsc.bcm.edu	37	3	10400378	10400378	+	Silent	SNP	T	T	C			TCGA-SX-A7SL-01A-11D-A34Z-10	TCGA-SX-A7SL-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e274845c-65ec-4db0-89f9-7d502ac2e427	e96052fd-169c-4e27-bd82-a5b6c796da53	g.chr3:10400378T>C	ENST00000352432.4	-	13	2202	c.2133A>G	c.(2131-2133)ccA>ccG	p.P711P	ATP2B2_ENST00000360273.2_Silent_p.P711P|ATP2B2_ENST00000343816.4_Silent_p.P697P|ATP2B2_ENST00000383800.4_Silent_p.P666P|ATP2B2_ENST00000397077.1_Silent_p.P666P			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	711					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						GGCCTACCTCTGGCCGCACCG	0.622																																					Ovarian(125;1619 1709 15675 19819 38835)											0													34	27	30					3																	10400378		2203	4300	6503	SO:0001819	synonymous_variant	491			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.2133A>G	chr3.hg19:g.10400378T>C			O00766|Q12994|Q16818	Silent	SNP	ENST00000352432.4	hg19	CCDS33701.1																																																																																				0.622	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		C	10400378	T	C	10400378	2	2	788	1	0	0	0	0	0	0	0	1	1140	1567	55	3		3	ATP2B2	3	10400378	Silent	SNP	T	TCGA-SX-A7SL-01A-11D-A34Z-10	669705	10400378	187622052	17	46792											
LRRC58	116064	hgsc.bcm.edu	37	3	120050190	120050190	+	Missense_Mutation	SNP	G	G	A			TCGA-SX-A7SL-01A-11D-A34Z-10	TCGA-SX-A7SL-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e274845c-65ec-4db0-89f9-7d502ac2e427	e96052fd-169c-4e27-bd82-a5b6c796da53	g.chr3:120050190G>A	ENST00000295628.3	-	4	1068	c.973C>T	c.(973-975)Cca>Tca	p.P325S		NM_001099678.1	NP_001093148.1	Q96CX6	LRC58_HUMAN	leucine rich repeat containing 58	325										large_intestine(2)|lung(5)	7				GBM - Glioblastoma multiforme(114;0.147)		TGCATCAGTGGGAGGCGATAC	0.438																																																0													83	83	83					3																	120050190		1928	4134	6062	SO:0001583	missense	116064			BC013757	CCDS46892.1	3q13.33	2006-01-06			ENSG00000163428	ENSG00000163428			26968	protein-coding gene	gene with protein product							Standard	NM_001099678		Approved		uc003edr.2	Q96CX6	OTTHUMG00000159407	ENST00000295628.3:c.973C>T	chr3.hg19:g.120050190G>A	ENSP00000295628:p.Pro325Ser			Missense_Mutation	SNP	ENST00000295628.3	hg19	CCDS46892.1	.	.	.	.	.	.	.	.	.	.	G	32	5.106531	0.94292	.	.	ENSG00000163428	ENST00000295628	T	0.55052	0.54	5.61	5.61	0.85477	.	0.047934	0.85682	D	0.000000	T	0.74397	0.3711	M	0.88377	2.95	0.80722	D	1	D	0.71674	0.998	P	0.57425	0.82	T	0.79999	-0.1566	10	0.87932	D	0	-10.0529	18.612	0.91288	0.0:0.0:1.0:0.0	.	325	Q96CX6	LRC58_HUMAN	S	325	ENSP00000295628:P325S	ENSP00000295628:P325S	P	-	1	0	LRRC58	121532880	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.768000	0.98965	2.638000	0.89438	0.655000	0.94253	CCA		0.438	LRRC58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355142.1	XM_057296		A	120050190	G	A	120050190	3	1	788	1	0	0	0	0	1	0	0	0	9016	1232	43	2	146	2	LRRC58	3	120050190	Missense_Mutation	SNP	G	TCGA-SX-A7SL-01A-11D-A34Z-10	109649812	120050190	77972240	18	46793											
GOLGB1	2804	hgsc.bcm.edu	37	3	121435943	121435943	+	Missense_Mutation	SNP	G	G	T			TCGA-SX-A7SL-01A-11D-A34Z-10	TCGA-SX-A7SL-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e274845c-65ec-4db0-89f9-7d502ac2e427	e96052fd-169c-4e27-bd82-a5b6c796da53	g.chr3:121435943G>T	ENST00000340645.5	-	9	1039	c.914C>A	c.(913-915)aCt>aAt	p.T305N	GOLGB1_ENST00000393667.3_Missense_Mutation_p.T310N	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	305					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GTTCCTCAAAGTATTATGCTC	0.378																																																0													76	75	75					3																	121435943		2203	4300	6503	SO:0001583	missense	2804			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.914C>A	chr3.hg19:g.121435943G>T	ENSP00000341848:p.Thr305Asn		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	hg19	CCDS3004.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.33|10.33	1.320829|1.320829	0.23994|0.23994	.|.	.|.	ENSG00000173230|ENSG00000173230	ENST00000489400|ENST00000340645;ENST00000393667;ENST00000494517;ENST00000426235	.|T;T;T	.|0.23552	.|2.53;2.53;1.9	5.93|5.93	2.19|2.19	0.27852|0.27852	.|.	.|0.485196	.|0.20990	.|N	.|0.082042	T|T	0.30634|0.30634	0.0771|0.0771	L|L	0.45137|0.45137	1.4|1.4	0.24072|0.24072	N|N	0.995973|0.995973	.|D;D;D;D;D	.|0.67145	.|0.996;0.988;0.996;0.988;0.978	.|P;P;P;P;P	.|0.58266	.|0.834;0.836;0.834;0.756;0.675	T|T	0.11891|0.11891	-1.0569|-1.0569	5|10	.|0.20046	.|T	.|0.44	.|.	8.3021|8.3021	0.32021|0.32021	0.3197:0.0:0.6803:0.0|0.3197:0.0:0.6803:0.0	.|.	.|230;269;310;310;305	.|F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789	.|.;.;.;.;GOGB1_HUMAN	I|N	176|305;310;269;117	.|ENSP00000341848:T305N;ENSP00000377275:T310N;ENSP00000418231:T269N	.|ENSP00000341848:T305N	L|T	-|-	1|2	0|0	GOLGB1|GOLGB1	122918633|122918633	0.797000|0.797000	0.28877|0.28877	0.838000|0.838000	0.33150|0.33150	0.211000|0.211000	0.24417|0.24417	1.008000|1.008000	0.29872|0.29872	0.440000|0.440000	0.26502|0.26502	0.555000|0.555000	0.69702|0.69702	CTT|ACT		0.378	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		T	121435943	G	T	121435943	3	4	788	1	0	0	0	0	1	0	0	0	6567	1029	36	4	8921	4	GOLGB1	3	121435943	Missense_Mutation	SNP	G	TCGA-SX-A7SL-01A-11D-A34Z-10	1385753	121435943	76586487	19	46794											
PDIA5	10954	hgsc.bcm.edu	37	3	122880182	122880182	+	Silent	SNP	T	T	C			TCGA-SX-A7SL-01A-11D-A34Z-10	TCGA-SX-A7SL-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e274845c-65ec-4db0-89f9-7d502ac2e427	e96052fd-169c-4e27-bd82-a5b6c796da53	g.chr3:122880182T>C	ENST00000316218.7	+	16	1454	c.1359T>C	c.(1357-1359)gcT>gcC	p.A453A	PDIA5_ENST00000467157.1_3'UTR	NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	453	Thioredoxin 3. {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)		CCTGTGCCGCTGTTGACTGTG	0.547																																																0													100	88	92					3																	122880182		2203	4300	6503	SO:0001819	synonymous_variant	10954			AK054963	CCDS3020.1	3q21.1	2009-11-20	2005-06-29		ENSG00000065485	ENSG00000065485	5.3.4.1	"Protein disulfide isomerases"	24811	protein-coding gene	gene with protein product			"protein disulfide isomerase-associated 5"			7556671	Standard	NM_006810		Approved	PDIR, FLJ30401	uc003egc.2	Q14554	OTTHUMG00000159558	ENST00000316218.7:c.1359T>C	chr3.hg19:g.122880182T>C			D3DN95|Q9BV43	Silent	SNP	ENST00000316218.7	hg19	CCDS3020.1																																																																																				0.547	PDIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356192.1	NM_006810		C	122880182	T	C	122880182	2	2	788	1	0	0	0	0	0	0	0	1	11673	1567	55	3		3	PDIA5	3	122880182	Silent	SNP	T	TCGA-SX-A7SL-01A-11D-A34Z-10	1444239	122880182	75142248	20	46795											
PLOD2	5352	hgsc.bcm.edu	37	3	145824360	145824360	+	Missense_Mutation	SNP	G	G	T			TCGA-SX-A7SL-01A-11D-A34Z-10	TCGA-SX-A7SL-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e274845c-65ec-4db0-89f9-7d502ac2e427	e96052fd-169c-4e27-bd82-a5b6c796da53	g.chr3:145824360G>T	ENST00000360060.3	-	5	751	c.574C>A	c.(574-576)Cag>Aag	p.Q192K	PLOD2_ENST00000494950.1_Missense_Mutation_p.Q137K|RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000282903.5_Missense_Mutation_p.Q192K	NM_000935.2	NP_000926.2	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	192					cellular protein modification process (GO:0006464)|extracellular matrix organization (GO:0030198)|response to hypoxia (GO:0001666)	endoplasmic reticulum (GO:0005783)|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)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	TAAAAGAGCTGATCATCATCA	0.348																																																0													160	158	159					3																	145824360		2203	4300	6503	SO:0001583	missense	5352			U84573	CCDS3131.1, CCDS3132.1	3q24	2011-08-24	2005-01-04		ENSG00000152952	ENSG00000152952			9082	protein-coding gene	gene with protein product	"lysyl hydroxlase 2"	601865	"procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 2"			9054364	Standard	XM_005247535		Approved	LH2	uc003evr.1	O00469	OTTHUMG00000159417	ENST00000360060.3:c.574C>A	chr3.hg19:g.145824360G>T	ENSP00000353170:p.Gln192Lys		B3KWS3|Q59ED2|Q8N170	Missense_Mutation	SNP	ENST00000360060.3	hg19	CCDS3131.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.002651	0.93227	.	.	ENSG00000152952	ENST00000282903;ENST00000360060;ENST00000494950;ENST00000469350	T;T;T;T	0.39592	1.07;1.07;1.07;1.07	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.73984	0.3657	M	0.92169	3.28	0.80722	D	1	D;D;D	0.89917	0.994;0.998;1.0	D;D;D	0.91635	0.965;0.996;0.999	T	0.81437	-0.0933	10	0.87932	D	0	-34.5777	18.8329	0.92148	0.0:0.0:1.0:0.0	.	137;192;192	E7ETU9;O00469;O00469-2	.;PLOD2_HUMAN;.	K	192;192;137;164	ENSP00000282903:Q192K;ENSP00000353170:Q192K;ENSP00000420094:Q137K;ENSP00000419963:Q164K	ENSP00000282903:Q192K	Q	-	1	0	PLOD2	147307050	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.444000	0.97578	2.442000	0.82660	0.655000	0.94253	CAG		0.348	PLOD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355185.1	NM_000935		T	145824360	G	T	145824360	3	4	788	1	0	0	0	0	1	0	0	0	12104	1299	45	4	1766	4	PLOD2	3	145824360	Missense_Mutation	SNP	G	TCGA-SX-A7SL-01A-11D-A34Z-10	22944178	145824360	52198070	21	46796	502	2									
PLOD2	5352	hgsc.bcm.edu	37	3	145824369	145824369	+	Missense_Mutation	SNP	C	C	T			TCGA-SX-A7SL-01A-11D-A34Z-10	TCGA-SX-A7SL-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e274845c-65ec-4db0-89f9-7d502ac2e427	e96052fd-169c-4e27-bd82-a5b6c796da53	g.chr3:145824369C>T	ENST00000360060.3	-	5	742	c.565G>A	c.(565-567)Gat>Aat	p.D189N	PLOD2_ENST00000494950.1_Missense_Mutation_p.D134N|RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000282903.5_Missense_Mutation_p.D189N	NM_000935.2	NP_000926.2	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	189					cellular protein modification process (GO:0006464)|extracellular matrix organization (GO:0030198)|response to hypoxia (GO:0001666)	endoplasmic reticulum (GO:0005783)|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)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	TGATCATCATCATTATCCTGG	0.348																																																0													158	157	157					3																	145824369		2203	4300	6503	SO:0001583	missense	5352			U84573	CCDS3131.1, CCDS3132.1	3q24	2011-08-24	2005-01-04		ENSG00000152952	ENSG00000152952			9082	protein-coding gene	gene with protein product	"lysyl hydroxlase 2"	601865	"procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 2"			9054364	Standard	XM_005247535		Approved	LH2	uc003evr.1	O00469	OTTHUMG00000159417	ENST00000360060.3:c.565G>A	chr3.hg19:g.145824369C>T	ENSP00000353170:p.Asp189Asn		B3KWS3|Q59ED2|Q8N170	Missense_Mutation	SNP	ENST00000360060.3	hg19	CCDS3131.1	.	.	.	.	.	.	.	.	.	.	C	33	5.214470	0.95104	.	.	ENSG00000152952	ENST00000282903;ENST00000360060;ENST00000494950;ENST00000469350	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.63034	0.2477	M	0.86343	2.81	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;1.0;0.995	T	0.68614	-0.5362	10	0.54805	T	0.06	-38.5898	18.8329	0.92148	0.0:1.0:0.0:0.0	.	134;189;189	E7ETU9;O00469;O00469-2	.;PLOD2_HUMAN;.	N	189;189;134;161	ENSP00000282903:D189N;ENSP00000353170:D189N;ENSP00000420094:D134N;ENSP00000419963:D161N	ENSP00000282903:D189N	D	-	1	0	PLOD2	147307059	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.463000	0.80869	2.442000	0.82660	0.655000	0.94253	GAT		0.348	PLOD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355185.1	NM_000935		T	145824369	C	T	145824369	3	4	788	1	0	0	0	0	1	0	0	0	12104	826	29	2	1775	2	PLOD2	3	145824369	Missense_Mutation	SNP	C	TCGA-SX-A7SL-01A-11D-A34Z-10	9	145824369	52198061	22	46797	502	2									
GFM1	85476	hgsc.bcm.edu	37	3	158362456	158362456	+	Silent	SNP	T	T	G			TCGA-SX-A7SL-01A-11D-A34Z-10	TCGA-SX-A7SL-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e274845c-65ec-4db0-89f9-7d502ac2e427	e96052fd-169c-4e27-bd82-a5b6c796da53	g.chr3:158362456T>G	ENST00000486715.1	+	1	390	c.33T>G	c.(31-33)gcT>gcG	p.A11A	GFM1_ENST00000264263.5_Silent_p.A11A|GFM1_ENST00000478576.1_Silent_p.A11A	NM_024996.5	NP_079272.4			G elongation factor, mitochondrial 1											breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			CCGTCGCGGCTCTGGGGCGCG	0.667											OREG0015898	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													6	8	7					3																	158362456		2165	4239	6404	SO:0001819	synonymous_variant	85476			AF309777	CCDS33885.1	3q25	2008-02-05			ENSG00000168827	ENSG00000168827			13780	protein-coding gene	gene with protein product		606639	"G translation elongation factor, mitochondrial"			11374907, 11735030	Standard	NM_024996		Approved	EFGM, GFM, EGF1	uc003fce.3	Q96RP9	OTTHUMG00000158804	ENST00000486715.1:c.33T>G	chr3.hg19:g.158362456T>G		1793		Silent	SNP	ENST00000486715.1	hg19	CCDS33885.1																																																																																				0.667	GFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352271.1	NM_024996		G	158362456	T	G	158362456	2	3	788	1	0	0	0	0	0	0	0	1	6343	1538	54	5		5	GFM1	3	158362456	Silent	SNP	T	TCGA-SX-A7SL-01A-11D-A34Z-10	12538087	158362456	39659974	23	46798											
ATP8A1	10396	hgsc.bcm.edu	37	4	42457327	42457327	+	Missense_Mutation	SNP	T	T	A			TCGA-SX-A7SL-01A-11D-A34Z-10	TCGA-SX-A7SL-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e274845c-65ec-4db0-89f9-7d502ac2e427	e96052fd-169c-4e27-bd82-a5b6c796da53	g.chr4:42457327T>A	ENST00000381668.5	-	29	3035	c.2804A>T	c.(2803-2805)gAc>gTc	p.D935V	ATP8A1_ENST00000264449.10_Missense_Mutation_p.D920V	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	935					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)	GGTGTTGAAGTCCAGGGCATT	0.443																																																0													166	139	148					4																	42457327		2203	4300	6503	SO:0001583	missense	10396			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.2804A>T	chr4.hg19:g.42457327T>A	ENSP00000371084:p.Asp935Val		Q32M35|Q32M36|Q4W5J7|Q4W5P2	Missense_Mutation	SNP	ENST00000381668.5	hg19	CCDS3466.1	.	.	.	.	.	.	.	.	.	.	T	10.20	1.284164	0.23392	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	T;T	0.71341	-0.56;-0.56	5.09	5.09	0.68999	.	0.069887	0.56097	D	0.000023	T	0.59335	0.2186	L	0.28115	0.83	0.80722	D	1	B;B;B	0.11235	0.004;0.004;0.004	B;B;B	0.14023	0.01;0.007;0.007	T	0.55309	-0.8161	10	0.36615	T	0.2	.	15.1662	0.72828	0.0:0.0:0.0:1.0	.	920;935;927	Q32M35;Q9Y2Q0;E7EUK4	.;AT8A1_HUMAN;.	V	935;920	ENSP00000371084:D935V;ENSP00000264449:D920V	ENSP00000264449:D920V	D	-	2	0	ATP8A1	42152084	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.734000	0.62043	2.030000	0.59900	0.455000	0.32223	GAC		0.443	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095		A	42457327	T	A	42457327	3	1	788	1	0	0	0	0	1	0	0	0	1192	1667	58	5	726	5	ATP8A1	4	42457327	Missense_Mutation	SNP	T	TCGA-SX-A7SL-01A-11D-A34Z-10		42457327	148696949	24	46799											
UGT2A1	10941	hgsc.bcm.edu	37	4	70512663	70512663	+	Missense_Mutation	SNP	A	A	T			TCGA-SX-A7SL-01A-11D-A34Z-10	TCGA-SX-A7SL-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e274845c-65ec-4db0-89f9-7d502ac2e427	e96052fd-169c-4e27-bd82-a5b6c796da53	g.chr4:70512663A>T	ENST00000503640.1	-	1	755	c.700T>A	c.(700-702)Tat>Aat	p.Y234N	UGT2A1_ENST00000286604.4_Missense_Mutation_p.Y234N|UGT2A1_ENST00000512704.1_Missense_Mutation_p.Y234N|UGT2A1_ENST00000514019.1_Missense_Mutation_p.Y234N	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	234					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						GCTTTACTATAGTATGAATCC	0.338																																																0													56	56	56					4																	70512663		2200	4298	6498	SO:0001583	missense	10941			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.700T>A	chr4.hg19:g.70512663A>T	ENSP00000424478:p.Tyr234Asn		B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Missense_Mutation	SNP	ENST00000503640.1	hg19	CCDS3529.1	.	.	.	.	.	.	.	.	.	.	A	18.05	3.538159	0.65085	.	.	ENSG00000173610	ENST00000503640;ENST00000512704;ENST00000514019;ENST00000286604	T;T;T;T	0.62232	0.08;0.04;0.08;0.08	5.78	5.78	0.91487	.	0.127268	0.56097	D	0.000040	T	0.80869	0.4706	M	0.84846	2.72	.	.	.	D;D;D;D	0.89917	1.0;1.0;0.994;0.994	D;D;D;D	0.97110	1.0;1.0;0.93;0.93	D	0.85603	0.1253	9	0.66056	D	0.02	.	14.0552	0.64764	1.0:0.0:0.0:0.0	.	234;234;234;234	E9PDM7;B4E2F4;D6RFW5;Q9Y4X1	.;.;.;UD2A1_HUMAN	N	234	ENSP00000424478:Y234N;ENSP00000421432:Y234N;ENSP00000425497:Y234N;ENSP00000286604:Y234N	ENSP00000286604:Y234N	Y	-	1	0	UGT2A1	70547252	1.000000	0.71417	0.994000	0.49952	0.733000	0.41908	7.912000	0.87465	2.215000	0.71742	0.482000	0.46254	TAT		0.338	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251554.3	NM_006798		T	70512663	A	T	70512663	3	4	788	1	0	0	0	0	1	0	0	0	16958	420	15	5	907	5	UGT2A1	4	70512663	Missense_Mutation	SNP	A	TCGA-SX-A7SL-01A-11D-A34Z-10	28055336	70512663	120641613	25	46800											
PCDH10	57575	hgsc.bcm.edu	37	4	134072787	134072787	+	Missense_Mutation	SNP	C	C	G			TCGA-SX-A7SL-01A-11D-A34Z-10	TCGA-SX-A7SL-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e274845c-65ec-4db0-89f9-7d502ac2e427	e96052fd-169c-4e27-bd82-a5b6c796da53	g.chr4:134072787C>G	ENST00000264360.5	+	1	2318	c.1492C>G	c.(1492-1494)Ctt>Gtt	p.L498V	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	498	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)|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)		CAACGCCCAGCTTGCCTACTC	0.587																																																0													59	61	60					4																	134072787		2203	4299	6502	SO:0001583	missense	57575			AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"Cadherins / Protocadherins : Non-clustered"	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1492C>G	chr4.hg19:g.134072787C>G	ENSP00000264360:p.Leu498Val		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	hg19	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	C	8.080	0.772215	0.16051	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.48836	0.8	4.51	1.71	0.24356	Cadherin (4);Cadherin-like (1);	0.000000	0.35179	N	0.003395	T	0.22666	0.0547	N	0.12611	0.24	0.32518	N	0.536591	B;B	0.14012	0.007;0.009	B;B	0.23574	0.004;0.047	T	0.16958	-1.0385	10	0.13470	T	0.59	.	4.0843	0.09940	0.3205:0.4962:0.0:0.1832	.	498;498	Q9P2E7;Q96SF0	PCD10_HUMAN;.	V	498	ENSP00000264360:L498V	ENSP00000264360:L498V	L	+	1	0	PCDH10	134292237	0.927000	0.31430	0.858000	0.33744	0.998000	0.95712	1.899000	0.39818	0.127000	0.18452	0.655000	0.94253	CTT		0.587	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		G	134072787	C	G	134072787	3	3	788	1	0	0	0	0	1	0	0	0	11509	797	28	4	1494	4	PCDH10	4	134072787	Missense_Mutation	SNP	C	TCGA-SX-A7SL-01A-11D-A34Z-10	63560124	134072787	57081489	26	46801											
MAML3	55534	hgsc.bcm.edu	37	4	140640884	140640884	+	Missense_Mutation	SNP	G	G	C			TCGA-SX-A7SL-01A-11D-A34Z-10	TCGA-SX-A7SL-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e274845c-65ec-4db0-89f9-7d502ac2e427	e96052fd-169c-4e27-bd82-a5b6c796da53	g.chr4:140640884G>C	ENST00000509479.2	-	5	3866	c.3010C>G	c.(3010-3012)Cag>Gag	p.Q1004E	MGST2_ENST00000515137.1_Intron	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)					CTCAGTCCCTGTGGGAAGTGC	0.602																																																0													45	47	47					4																	140640884		2103	4232	6335	SO:0001583	missense	55534			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.3010C>G	chr4.hg19:g.140640884G>C	ENSP00000421180:p.Gln1004Glu			Missense_Mutation	SNP	ENST00000509479.2	hg19	CCDS54805.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.089751	0.76756	.	.	ENSG00000196782	ENST00000509479;ENST00000538400	T	0.38240	1.15	4.86	4.86	0.63082	.	0.147180	0.45126	D	0.000383	T	0.61223	0.2330	M	0.81942	2.565	0.80722	D	1	D;D	0.54207	0.965;0.965	P;P	0.61201	0.885;0.885	T	0.66196	-0.5984	10	0.56958	D	0.05	.	18.3673	0.90396	0.0:0.0:1.0:0.0	.	1004;1000	E7EVW8;Q96JK9	.;MAML3_HUMAN	E	1004;311	ENSP00000421180:Q1004E	ENSP00000421180:Q1004E	Q	-	1	0	MAML3	140860334	1.000000	0.71417	0.979000	0.43373	0.959000	0.62525	7.904000	0.87408	2.401000	0.81631	0.591000	0.81541	CAG		0.602	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			C	140640884	G	C	140640884	3	2	788	1	0	0	0	0	1	0	0	0	9209	1386	48	4	410	4	MAML3	4	140640884	Missense_Mutation	SNP	G	TCGA-SX-A7SL-01A-11D-A34Z-10	6568097	140640884	50513392	27	46802											
SRPK1	6732	hgsc.bcm.edu	37	6	35803124	35803125	+	Missense_Mutation	DNP	GC	GC	AT			TCGA-SX-A7SL-01A-11D-A34Z-10	TCGA-SX-A7SL-10A-01D-A34Z-10	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e274845c-65ec-4db0-89f9-7d502ac2e427	e96052fd-169c-4e27-bd82-a5b6c796da53	g.chr6:35803124_35803125GC>AT	ENST00000373825.2	-	16	2209_2210	c.1924_1925GC>AT	c.(1924-1926)GCc>ATc	p.A642I	SRPK1_ENST00000423325.2_Missense_Mutation_p.A626I|SRPK1_ENST00000373822.1_Missense_Mutation_p.A534I					SRSF protein kinase 1											endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						GGCGGCAGTGGCTCTCTTCTCA	0.564																																					NSCLC(31;67 978 16289 24856 26454)											0																																										SO:0001583	missense	6732			U09564	CCDS47415.1	6p21.31	2010-06-23	2010-06-23		ENSG00000096063	ENSG00000096063			11305	protein-coding gene	gene with protein product	"SR protein kinase 1", "serine/arginine-rich splicing factor kinase 1"	601939	"SFRS protein kinase 1"			8208298, 10198174	Standard	NM_003137		Approved	SFRSK1	uc003olj.3	Q96SB4	OTTHUMG00000014583	ENST00000373825.2:c.1924_1925delinsAT	chr6.hg19:g.35803124_35803125delinsAT	ENSP00000362931:p.Ala642Ile			Missense_Mutation	SNP	ENST00000373825.2	hg19	CCDS47415.1																																																																																				0.564	SRPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040319.3	NM_003137		AT	35803125	GC	AT	35803124	3	1	788	1	0	0	0	0	1	0	0	0	15164	1203	42	2	46	2	SRPK1	6	35803124	Missense_Mutation	DNP	GC	TCGA-SX-A7SL-01A-11D-A34Z-10		35803124	135311943	28	46803											
PKHD1	5314	hgsc.bcm.edu	37	6	51913390	51913390	+	Missense_Mutation	SNP	C	C	G			TCGA-SX-A7SL-01A-11D-A34Z-10	TCGA-SX-A7SL-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e274845c-65ec-4db0-89f9-7d502ac2e427	e96052fd-169c-4e27-bd82-a5b6c796da53	g.chr6:51913390C>G	ENST00000371117.3	-	23	2582	c.2307G>C	c.(2305-2307)gaG>gaC	p.E769D	PKHD1_ENST00000340994.4_Missense_Mutation_p.E769D	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	769					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)					GTCCAGATCCCTCTTCTGTTC	0.522																																																0													114	95	101					6																	51913390		2203	4300	6503	SO:0001583	missense	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.2307G>C	chr6.hg19:g.51913390C>G	ENSP00000360158:p.Glu769Asp		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	hg19	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	11.80	1.746328	0.30955	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.87571	-2.06;-2.27	5.65	0.145	0.14829	.	0.742423	0.12926	N	0.427779	T	0.56202	0.1969	L	0.37850	1.14	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.39482	-0.9612	10	0.19590	T	0.45	.	1.7503	0.02970	0.2806:0.0806:0.1461:0.4928	.	769;769	P08F94-2;P08F94	.;PKHD1_HUMAN	D	769	ENSP00000360158:E769D;ENSP00000341097:E769D	ENSP00000341097:E769D	E	-	3	2	PKHD1	52021349	0.002000	0.14202	0.000000	0.03702	0.349000	0.29174	0.845000	0.27668	-0.198000	0.10333	-0.302000	0.09304	GAG		0.522	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		G	51913390	C	G	51913390	3	3	788	1	0	0	0	0	1	0	0	0	11973	680	24	4	10136	4	PKHD1	6	51913390	Missense_Mutation	SNP	C	TCGA-SX-A7SL-01A-11D-A34Z-10	16110266	51913390	119201677	29	46804											
CD164	8763	hgsc.bcm.edu	37	6	109699166	109699166	+	Missense_Mutation	SNP	A	A	T			TCGA-SX-A7SL-01A-11D-A34Z-10	TCGA-SX-A7SL-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e274845c-65ec-4db0-89f9-7d502ac2e427	e96052fd-169c-4e27-bd82-a5b6c796da53	g.chr6:109699166A>T	ENST00000310786.4	-	3	333	c.268T>A	c.(268-270)Tat>Aat	p.Y90N	CD164_ENST00000275080.7_Missense_Mutation_p.Y90N|CD164_ENST00000506649.1_5'UTR|CD164_ENST00000368961.5_Missense_Mutation_p.Y90N|CD164_ENST00000413644.2_Missense_Mutation_p.Y90N|CD164_ENST00000504373.1_Missense_Mutation_p.Y56N|CD164_ENST00000324953.5_Missense_Mutation_p.Y90N|CD164_ENST00000512821.1_Missense_Mutation_p.Y90N	NM_001142404.1|NM_006016.4	NP_001135876.1|NP_006007.2	Q04900	MUC24_HUMAN	CD164 molecule, sialomucin	90					cell adhesion (GO:0007155)|hemopoiesis (GO:0030097)|heterophilic cell-cell adhesion (GO:0007157)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|muscle organ development (GO:0007517)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|signal transduction (GO:0007165)	endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|plasma membrane (GO:0005886)				breast(1)|lung(2)	3		all_cancers(87;4.65e-22)|all_epithelial(87;2.54e-20)|all_lung(197;1.6e-05)|Lung NSC(302;2.92e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.0175)		Epithelial(106;7.83e-46)|all cancers(137;1.15e-45)|OV - Ovarian serous cystadenocarcinoma(136;2.89e-26)|BRCA - Breast invasive adenocarcinoma(108;0.00128)|GBM - Glioblastoma multiforme(226;0.16)		TGTGAACAATAGCTCTCATCT	0.443																																																0													115	104	108					6																	109699166		2203	4300	6503	SO:0001583	missense	8763			AF106518	CCDS5073.1, CCDS47462.1, CCDS47463.1, CCDS47464.1, CCDS47465.1	6q21	2014-09-05	2006-03-28		ENSG00000135535	ENSG00000135535		"CD molecules"	1632	protein-coding gene	gene with protein product		603356	"CD164 antigen, sialomucin"			9680353, 9763543	Standard	NM_006016		Approved	MUC-24, MGC-24	uc003pte.3	Q04900	OTTHUMG00000015339	ENST00000310786.4:c.268T>A	chr6.hg19:g.109699166A>T	ENSP00000309376:p.Tyr90Asn		B4DQ85|E1P5E7|E1P5E8|E1P5E9|O95413|Q5JSU6|Q9BPV0|Q9NR26	Missense_Mutation	SNP	ENST00000310786.4	hg19	CCDS5073.1	.	.	.	.	.	.	.	.	.	.	A	17.89	3.498712	0.64298	.	.	ENSG00000135535	ENST00000413644;ENST00000368961;ENST00000324953;ENST00000310786;ENST00000275080;ENST00000512821;ENST00000504373	T;T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86;0.86	4.65	1.74	0.24563	.	0.788335	0.11567	N	0.551169	T	0.30759	0.0775	L	0.52573	1.65	0.29687	N	0.841213	P;P;P;P;P	0.46512	0.739;0.741;0.879;0.78;0.739	P;P;P;P;B	0.50708	0.63;0.528;0.648;0.511;0.377	T	0.16305	-1.0407	10	0.62326	D	0.03	-6.0273	3.4508	0.07498	0.6908:0.0:0.1178:0.1914	.	90;90;90;90;90	Q04900-5;Q04900-3;Q04900-4;Q04900;Q04900-2	.;.;.;MUC24_HUMAN;.	N	90;90;90;90;90;90;56	ENSP00000402237:Y90N;ENSP00000357957:Y90N;ENSP00000314177:Y90N;ENSP00000309376:Y90N;ENSP00000275080:Y90N;ENSP00000427546:Y90N;ENSP00000422999:Y56N	ENSP00000275080:Y90N	Y	-	1	0	CD164	109805859	0.903000	0.30736	0.976000	0.42696	0.351000	0.29236	0.322000	0.19576	0.786000	0.33708	0.460000	0.39030	TAT		0.443	CD164-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041742.1	NM_006016		T	109699166	A	T	109699166	3	4	788	1	0	0	0	0	1	0	0	0	2971	420	15	5	392	5	CD164	6	109699166	Missense_Mutation	SNP	A	TCGA-SX-A7SL-01A-11D-A34Z-10	57785776	109699166	61415901	30	46805											
MIOS	54468	hgsc.bcm.edu	37	7	7612994	7612994	+	Frame_Shift_Del	DEL	T	T	-			TCGA-SX-A7SL-01A-11D-A34Z-10	TCGA-SX-A7SL-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e274845c-65ec-4db0-89f9-7d502ac2e427	e96052fd-169c-4e27-bd82-a5b6c796da53	g.chr7:7612994delT	ENST00000340080.4	+	4	1309	c.888delT	c.(886-888)tatfs	p.Y296fs	MIOS_ENST00000405785.1_Frame_Shift_Del_p.Y296fs	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	296						lysosomal membrane (GO:0005765)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTAGATTGTATGATATGCAGC	0.408																																																0													101	96	98					7																	7612994		1907	4106	6013	SO:0001589	frameshift_variant	54468				CCDS43554.1	7p21.3	2011-09-12			ENSG00000164654	ENSG00000164654			21905	protein-coding gene	gene with protein product	"WD repeat-containing protein mio"	615359				14973288	Standard	NM_019005		Approved	FLJ20323	uc003srf.3	Q9NXC5	OTTHUMG00000152440	ENST00000340080.4:c.888delT	chr7.hg19:g.7612994delT	ENSP00000339881:p.Tyr296fs		B2RTV6|O75216|Q7L551|Q9H092	Frame_Shift_Del	DEL	ENST00000340080.4	hg19	CCDS43554.1																																																																																				0.408	MIOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326218.1	NM_019005		-	7612994	T	-	7612994	7	5	788	1	0	1	0	1	0	0	0	0	9591	1471	51	0	890	0	MIOS	7	7612994	Frame_Shift_Del	DEL	T	TCGA-SX-A7SL-01A-11D-A34Z-10		7612994	151525669	31	46806											
ABCA13	154664	hgsc.bcm.edu	37	7	48431545	48431545	+	Silent	SNP	C	C	T	rs189672968	byFrequency	TCGA-SX-A7SL-01A-11D-A34Z-10	TCGA-SX-A7SL-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e274845c-65ec-4db0-89f9-7d502ac2e427	e96052fd-169c-4e27-bd82-a5b6c796da53	g.chr7:48431545C>T	ENST00000435803.1	+	38	11706	c.11682C>T	c.(11680-11682)ccC>ccT	p.P3894P		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3894	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(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						TCCACCCTCCCACTTCTGGAA	0.522																																																0													78	78	78					7																	48431545		2002	4160	6162	SO:0001819	synonymous_variant	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.11682C>T	chr7.hg19:g.48431545C>T			K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	hg19	CCDS47584.1																																																																																				0.522	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		T	48431545	C	T	48431545	2	4	788	1	0	0	0	0	0	0	0	1	31	581	21	2		2	ABCA13	7	48431545	Silent	SNP	C	TCGA-SX-A7SL-01A-11D-A34Z-10	40818551	48431545	110707118	32	46807											
MCPH1	79648	hgsc.bcm.edu	37	8	6266814	6266814	+	Missense_Mutation	SNP	G	G	A			TCGA-SX-A7SL-01A-11D-A34Z-10	TCGA-SX-A7SL-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e274845c-65ec-4db0-89f9-7d502ac2e427	e96052fd-169c-4e27-bd82-a5b6c796da53	g.chr8:6266814G>A	ENST00000344683.5	+	2	113	c.37G>A	c.(37-39)Gtt>Att	p.V13I	RP11-115C21.2_ENST00000500118.2_RNA|MCPH1_ENST00000522905.1_Missense_Mutation_p.V13I|RP11-115C21.2_ENST00000523225.1_RNA|MCPH1_ENST00000519480.1_Missense_Mutation_p.V13I|RP11-115C21.2_ENST00000606853.1_RNA	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	13	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.				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)		AGTGGCCTATGTTGAAGTGTG	0.363																																					Colon(95;1448 1467 8277 34473 35819)											0													170	158	162					8																	6266814		1898	4124	6022	SO:0001583	missense	79648			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.37G>A	chr8.hg19:g.6266814G>A	ENSP00000342924:p.Val13Ile		B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7	Missense_Mutation	SNP	ENST00000344683.5	hg19	CCDS43689.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.856648	0.91433	.	.	ENSG00000147316	ENST00000344683;ENST00000519480;ENST00000522905	D;D;D	0.84370	-1.84;-1.84;-1.84	5.33	5.33	0.75918	BRCT (3);	0.000000	0.64402	D	0.000004	D	0.92011	0.7469	M	0.74881	2.28	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.985;0.998;0.985	D	0.92820	0.6271	10	0.87932	D	0	-22.1517	16.5324	0.84365	0.0:0.0:1.0:0.0	.	13;13;13	E9PH63;Q8NEM0;E9PGU5	.;MCPH1_HUMAN;.	I	13	ENSP00000342924:V13I;ENSP00000430962:V13I;ENSP00000430768:V13I	ENSP00000342924:V13I	V	+	1	0	MCPH1	6254222	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.390000	0.73204	2.488000	0.83962	0.591000	0.81541	GTT		0.363	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374532.2	NM_024596		A	6266814	G	A	6266814	3	1	788	1	0	0	0	0	1	0	0	0	9400	1377	48	2	43	2	MCPH1	8	6266814	Missense_Mutation	SNP	G	TCGA-SX-A7SL-01A-11D-A34Z-10		6266814	140097208	33	46808											
WWP1	11059	hgsc.bcm.edu	37	8	87410646	87410646	+	Missense_Mutation	SNP	T	T	C			TCGA-SX-A7SL-01A-11D-A34Z-10	TCGA-SX-A7SL-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e274845c-65ec-4db0-89f9-7d502ac2e427	e96052fd-169c-4e27-bd82-a5b6c796da53	g.chr8:87410646T>C	ENST00000517970.1	+	6	717	c.410T>C	c.(409-411)gTt>gCt	p.V137A	WWP1_ENST00000349423.2_Intron|WWP1_ENST00000341922.2_Intron|WWP1_ENST00000265428.4_Missense_Mutation_p.V137A	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	137					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						GAATTGACAGTTGTGCTTGAT	0.328																																																0													79	84	82					8																	87410646		2203	4299	6502	SO:0001583	missense	11059			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.410T>C	chr8.hg19:g.87410646T>C	ENSP00000427793:p.Val137Ala		O00307|Q5YLC1|Q96BP4	Missense_Mutation	SNP	ENST00000517970.1	hg19	CCDS6242.1	.	.	.	.	.	.	.	.	.	.	T	18.88	3.718480	0.68844	.	.	ENSG00000123124	ENST00000517970;ENST00000265428	T;T	0.68765	-0.35;-0.35	5.69	5.69	0.88448	C2 calcium/lipid-binding domain, CaLB (1);	0.487699	0.21187	N	0.078705	T	0.68393	0.2996	L	0.58101	1.795	0.80722	D	1	P	0.51351	0.944	P	0.46850	0.529	T	0.66736	-0.5848	10	0.28530	T	0.3	.	15.9391	0.79739	0.0:0.0:0.0:1.0	.	137	Q9H0M0	WWP1_HUMAN	A	137	ENSP00000427793:V137A;ENSP00000265428:V137A	ENSP00000265428:V137A	V	+	2	0	WWP1	87479762	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.829000	0.69316	2.165000	0.68154	0.528000	0.53228	GTT		0.328	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374755.1	NM_007013		C	87410646	T	C	87410646	3	2	788	1	0	0	0	0	1	0	0	0	17420	1725	60	3	424	3	WWP1	8	87410646	Missense_Mutation	SNP	T	TCGA-SX-A7SL-01A-11D-A34Z-10	81143832	87410646	58953376	34	46809											
PARP10	84875	hgsc.bcm.edu	37	8	145057194	145057194	+	Missense_Mutation	SNP	T	T	A			TCGA-SX-A7SL-01A-11D-A34Z-10	TCGA-SX-A7SL-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e274845c-65ec-4db0-89f9-7d502ac2e427	e96052fd-169c-4e27-bd82-a5b6c796da53	g.chr8:145057194T>A	ENST00000313028.7	-	9	2556	c.2462A>T	c.(2461-2463)gAg>gTg	p.E821V	PARP10_ENST00000525773.1_Missense_Mutation_p.E833V|PARP10_ENST00000524918.1_Missense_Mutation_p.E812V|PARP10_ENST00000533665.1_5'Flank	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	821	Myc binding.|PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				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)			TGCCAGACGCTCCAGGTTGTT	0.657																																																0													56	60	59					8																	145057194		2203	4300	6503	SO:0001583	missense	84875			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.2462A>T	chr8.hg19:g.145057194T>A	ENSP00000325618:p.Glu821Val		Q8N2I0|Q8WV05|Q96CH7|Q96K72	Missense_Mutation	SNP	ENST00000313028.7	hg19	CCDS34960.1	.	.	.	.	.	.	.	.	.	.	T	14.26	2.483160	0.44147	.	.	ENSG00000178685	ENST00000524918;ENST00000534861;ENST00000313028;ENST00000525773	T;T;T	0.15834	2.39;2.39;2.39	5.09	3.92	0.45320	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.118179	0.37955	N	0.001871	T	0.21387	0.0515	N	0.17631	0.505	0.33963	D	0.645837	D;D	0.65815	0.995;0.995	D;D	0.68943	0.961;0.961	T	0.22521	-1.0214	10	0.23891	T	0.37	.	9.28	0.37722	0.0:0.0:0.1818:0.8182	.	833;821	E9PNI7;Q53GL7	.;PAR10_HUMAN	V	812;527;821;833	ENSP00000431620:E812V;ENSP00000325618:E821V;ENSP00000434776:E833V	ENSP00000325618:E821V	E	-	2	0	PARP10	145129182	0.009000	0.17119	0.729000	0.30791	0.249000	0.25844	0.114000	0.15520	0.871000	0.35750	0.451000	0.29950	GAG		0.657	PARP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383866.1	NM_032789		A	145057194	T	A	145057194	3	1	788	1	0	0	0	0	1	0	0	0	11457	1551	54	5	627	5	PARP10	8	145057194	Missense_Mutation	SNP	T	TCGA-SX-A7SL-01A-11D-A34Z-10	57646548	145057194	1306828	35	46810											
DAPK1	1612	hgsc.bcm.edu	37	9	90312114	90312114	+	Missense_Mutation	SNP	C	C	G			TCGA-SX-A7SL-01A-11D-A34Z-10	TCGA-SX-A7SL-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e274845c-65ec-4db0-89f9-7d502ac2e427	e96052fd-169c-4e27-bd82-a5b6c796da53	g.chr9:90312114C>G	ENST00000408954.3	+	22	2941	c.2606C>G	c.(2605-2607)cCc>cGc	p.P869R	DAPK1_ENST00000491893.1_Intron|DAPK1_ENST00000472284.1_Missense_Mutation_p.P869R|DAPK1_ENST00000469640.2_Missense_Mutation_p.P869R|DAPK1_ENST00000358077.5_Missense_Mutation_p.P869R	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	869					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						GTTGAAGAACCCATAGGTGAG	0.527									Chronic Lymphocytic Leukemia, Familial Clustering of																																							0													82	78	79					9																	90312114		1995	4162	6157	SO:0001583	missense	1612	Familial Cancer Database	Familial CLL	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.2606C>G	chr9.hg19:g.90312114C>G	ENSP00000386135:p.Pro869Arg		B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP	ENST00000408954.3	hg19	CCDS43842.1	.	.	.	.	.	.	.	.	.	.	C	13.63	2.294346	0.40594	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954	T;T;T;T	0.70516	-0.29;-0.29;-0.49;-0.29	5.5	4.61	0.57282	.	0.000000	0.52532	D	0.000080	T	0.62109	0.2401	L	0.46157	1.445	0.40576	D	0.981348	B	0.23650	0.089	B	0.17098	0.017	T	0.63620	-0.6596	10	0.72032	D	0.01	.	9.8246	0.40903	0.1396:0.7875:0.0:0.0729	.	869	P53355	DAPK1_HUMAN	R	869	ENSP00000350785:P869R;ENSP00000417076:P869R;ENSP00000418885:P869R;ENSP00000386135:P869R	ENSP00000350785:P869R	P	+	2	0	DAPK1	89501934	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.045000	0.41250	1.559000	0.49555	0.655000	0.94253	CCC		0.527	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938		G	90312114	C	G	90312114	3	3	788	1	0	0	0	0	1	0	0	0	4237	623	22	4	2688	4	DAPK1	9	90312114	Missense_Mutation	SNP	C	TCGA-SX-A7SL-01A-11D-A34Z-10		90312114	50901317	36	46811											
LMX1B	4010	hgsc.bcm.edu	37	9	129456044	129456044	+	Missense_Mutation	SNP	G	G	C			TCGA-SX-A7SL-01A-11D-A34Z-10	TCGA-SX-A7SL-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e274845c-65ec-4db0-89f9-7d502ac2e427	e96052fd-169c-4e27-bd82-a5b6c796da53	g.chr9:129456044G>C	ENST00000373474.4	+	6	846	c.839G>C	c.(838-840)cGg>cCg	p.R280P	LMX1B_ENST00000425646.2_Missense_Mutation_p.R257P|LMX1B_ENST00000526117.1_Missense_Mutation_p.R280P|LMX1B_ENST00000561065.1_Missense_Mutation_p.R257P|LMX1B_ENST00000355497.5_Missense_Mutation_p.R280P			O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	280					cell proliferation (GO:0008283)|central nervous system neuron development (GO:0021954)|cerebellum morphogenesis (GO:0021587)|collagen fibril organization (GO:0030199)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral pattern formation (GO:0009953)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|midbrain development (GO:0030901)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|organ growth (GO:0035265)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|trabecular meshwork development (GO:0002930)|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)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						CTGGCGCGGCGGCACCAGCAG	0.741									Nail-Patella Syndrome																												Pancreas(110;1796 2278 18357 20466)											0													4	4	4					9																	129456044		1996	3909	5905	SO:0001583	missense	4010	Familial Cancer Database	Osteo-Onychodysplasia, Turner-Kieser syndrome, Fong disease	U77457	CCDS6866.1, CCDS6866.2, CCDS55342.1, CCDS55343.1	9q33.3	2011-06-20			ENSG00000136944	ENSG00000136944		"Homeoboxes / LIM class"	6654	protein-coding gene	gene with protein product		602575		NPS1		9441763, 9590287	Standard	NM_002316		Approved		uc004bqj.3	O60663	OTTHUMG00000020692	ENST00000373474.4:c.839G>C	chr9.hg19:g.129456044G>C	ENSP00000362573:p.Arg280Pro		F8W7W6|O75463|Q5JU95|Q6ISC9	Missense_Mutation	SNP	ENST00000373474.4	hg19	CCDS55342.1	.	.	.	.	.	.	.	.	.	.	G	17.97	3.517624	0.64634	.	.	ENSG00000136944	ENST00000526117;ENST00000373474;ENST00000355497;ENST00000425646	T;T;T;T	0.78246	-1.16;-1.16;-1.07;-1.16	4.56	3.65	0.41850	Homeobox (1);	0.000000	0.85682	D	0.000000	T	0.76543	0.4002	M	0.66939	2.045	0.80722	D	1	P;B;P	0.37015	0.578;0.369;0.502	B;B;B	0.39068	0.289;0.112;0.224	T	0.77167	-0.2687	10	0.62326	D	0.03	.	12.7907	0.57533	0.0:0.0:0.8352:0.1648	.	257;257;280	B7ZLH2;O60663;F8VYP0	.;LMX1B_HUMAN;.	P	280;280;280;257	ENSP00000436930:R280P;ENSP00000362573:R280P;ENSP00000347684:R280P;ENSP00000390923:R257P	ENSP00000347684:R280P	R	+	2	0	LMX1B	128495865	1.000000	0.71417	0.532000	0.27989	0.961000	0.63080	6.065000	0.71176	0.867000	0.35654	0.561000	0.74099	CGG		0.741	LMX1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054123.2			C	129456044	G	C	129456044	3	2	788	1	0	0	0	0	1	0	0	0	8864	1116	39	4	861	4	LMX1B	9	129456044	Missense_Mutation	SNP	G	TCGA-SX-A7SL-01A-11D-A34Z-10	39143930	129456044	11757387	37	46812											
SEC16A	9919	hgsc.bcm.edu	37	9	139360854	139360854	+	Silent	SNP	A	A	G			TCGA-SX-A7SL-01A-11D-A34Z-10	TCGA-SX-A7SL-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e274845c-65ec-4db0-89f9-7d502ac2e427	e96052fd-169c-4e27-bd82-a5b6c796da53	g.chr9:139360854A>G	ENST00000371706.3	-	5	3489	c.3456T>C	c.(3454-3456)gaT>gaC	p.D1152D	SEC16A_ENST00000290037.6_Silent_p.D1152D|SEC16A_ENST00000313050.7_Silent_p.D1330D|SEC16A_ENST00000431893.2_Silent_p.D1152D			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1152	Required for endoplasmic reticulum localization.				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)		GATCGGGGTCATCGTCAAAAC	0.627																																																0													24	30	28					9																	139360854		2163	4267	6430	SO:0001819	synonymous_variant	9919			AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"KIAA0310"	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.3456T>C	chr9.hg19:g.139360854A>G			A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Silent	SNP	ENST00000371706.3	hg19		.	.	.	.	.	.	.	.	.	.	A	3.831	-0.035868	0.07497	.	.	ENSG00000148396	ENST00000433860	.	.	.	5.69	-11.4	0.00090	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-16.346	10.1481	0.42776	0.2182:0.2055:0.5134:0.0629	.	.	.	.	R	27	.	.	X	-	1	0	SEC16A	138480675	0.000000	0.05858	0.010000	0.14722	0.419000	0.31324	-1.735000	0.01847	-4.404000	0.00051	-1.139000	0.01908	TGA		0.627	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459		G	139360854	A	G	139360854	2	3	788	1	0	0	0	0	0	0	0	1	13992	214	8	3		3	SEC16A	9	139360854	Silent	SNP	A	TCGA-SX-A7SL-01A-11D-A34Z-10	9904810	139360854	1852577	38	46813											
ZMYND19	116225	hgsc.bcm.edu	37	9	140477471	140477471	+	Missense_Mutation	SNP	C	C	A			TCGA-SX-A7SL-01A-11D-A34Z-10	TCGA-SX-A7SL-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e274845c-65ec-4db0-89f9-7d502ac2e427	e96052fd-169c-4e27-bd82-a5b6c796da53	g.chr9:140477471C>A	ENST00000298585.2	-	5	730	c.504G>T	c.(502-504)gaG>gaT	p.E168D		NM_138462.2	NP_612471.1	Q96E35	ZMY19_HUMAN	zinc finger, MYND-type containing 19	168						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)		GGTAGTGGCACTCATAGTAGG	0.537																																																0													256	205	222					9																	140477471		2203	4300	6503	SO:0001583	missense	116225			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.504G>T	chr9.hg19:g.140477471C>A	ENSP00000298585:p.Glu168Asp		Q5T366	Missense_Mutation	SNP	ENST00000298585.2	hg19	CCDS7048.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.308524	0.81247	.	.	ENSG00000165724	ENST00000298585	.	.	.	5.29	3.2	0.36748	.	0.048852	0.85682	D	0.000000	T	0.69223	0.3087	M	0.68317	2.08	0.49483	D	0.999792	D	0.63046	0.992	D	0.77004	0.989	T	0.70234	-0.4928	9	0.87932	D	0	-33.5417	7.342	0.26641	0.0:0.7433:0.0:0.2567	.	168	Q96E35	ZMY19_HUMAN	D	168	.	ENSP00000298585:E168D	E	-	3	2	ZMYND19	139597292	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	2.044000	0.41241	1.239000	0.43787	0.561000	0.74099	GAG		0.537	ZMYND19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055356.1	NM_138462		A	140477471	C	A	140477471	3	1	788	1	0	0	0	0	1	0	0	0	17715	564	20	4	187	4	ZMYND19	9	140477471	Missense_Mutation	SNP	C	TCGA-SX-A7SL-01A-11D-A34Z-10	1116617	140477471	735960	39	46814											
FRMD4A	55691	hgsc.bcm.edu	37	10	13803654	13803654	+	Missense_Mutation	SNP	A	A	T			TCGA-SX-A7SL-01A-11D-A34Z-10	TCGA-SX-A7SL-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e274845c-65ec-4db0-89f9-7d502ac2e427	e96052fd-169c-4e27-bd82-a5b6c796da53	g.chr10:13803654A>T	ENST00000357447.2	-	8	825	c.457T>A	c.(457-459)Ttt>Att	p.F153I	FRMD4A_ENST00000342409.2_Missense_Mutation_p.F169I|FRMD4A_ENST00000378503.1_Missense_Mutation_p.F153I|FRMD4A_ENST00000358621.4_Missense_Mutation_p.F138I	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	153	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						TACCTAGAAAAATCTCCCTTT	0.333																																																0													104	107	106					10																	13803654		2203	4300	6503	SO:0001583	missense	55691			AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"FERM domain containing 4"	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.457T>A	chr10.hg19:g.13803654A>T	ENSP00000350032:p.Phe153Ile		A7E2Y3|Q5T377	Missense_Mutation	SNP	ENST00000357447.2	hg19	CCDS7101.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.440458	0.83993	.	.	ENSG00000151474	ENST00000358621;ENST00000357447;ENST00000378503;ENST00000264546;ENST00000342409	T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49	5.04	5.04	0.67666	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.000000	0.85682	D	0.000000	T	0.44726	0.1307	M	0.62723	1.935	0.58432	D	0.999997	P;P;P	0.51933	0.831;0.902;0.949	P;P;P	0.55222	0.716;0.598;0.771	T	0.45056	-0.9287	10	0.87932	D	0	-11.814	11.4873	0.50361	1.0:0.0:0.0:0.0	.	169;186;153	Q5T378;Q5T376;Q9P2Q2	.;.;FRM4A_HUMAN	I	138;153;153;186;169	ENSP00000351438:F138I;ENSP00000350032:F153I;ENSP00000367764:F153I;ENSP00000264546:F186I;ENSP00000344237:F169I	ENSP00000264546:F186I	F	-	1	0	FRMD4A	13843660	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.129000	0.64739	2.003000	0.58678	0.533000	0.62120	TTT		0.333	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	NM_018027		T	13803654	A	T	13803654	3	4	788	1	0	0	0	0	1	0	0	0	6053	14	1	5	2730	5	FRMD4A	10	13803654	Missense_Mutation	SNP	A	TCGA-SX-A7SL-01A-11D-A34Z-10		13803654	121731093	40	46815											
KIAA1279	26128	hgsc.bcm.edu	37	10	70748678	70748678	+	Missense_Mutation	SNP	G	G	C			TCGA-SX-A7SL-01A-11D-A34Z-10	TCGA-SX-A7SL-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e274845c-65ec-4db0-89f9-7d502ac2e427	e96052fd-169c-4e27-bd82-a5b6c796da53	g.chr10:70748678G>C	ENST00000361983.4	+	1	192	c.90G>C	c.(88-90)aaG>aaC	p.K30N		NM_015634.3	NP_056449.1	Q96EK5	KBP_HUMAN	KIAA1279	30					cell differentiation (GO:0030154)|mitochondrial transport (GO:0006839)|nervous system development (GO:0007399)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)	kinesin binding (GO:0019894)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						ATCCGGAGAAGGAACCATACA	0.622											OREG0020215	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													65	74	71					10																	70748678		2203	4300	6503	SO:0001583	missense	26128			BC012180	CCDS7284.1	10q22.1	2008-02-05			ENSG00000198954	ENSG00000198954			23419	protein-coding gene	gene with protein product		609367					Standard	NM_015634		Approved	DKFZP586B0923, TTC20	uc001joy.3	Q96EK5	OTTHUMG00000018363	ENST00000361983.4:c.90G>C	chr10.hg19:g.70748678G>C	ENSP00000354848:p.Lys30Asn	1124	A8K5M8|Q9BR89|Q9ULE1|Q9Y428	Missense_Mutation	SNP	ENST00000361983.4	hg19	CCDS7284.1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.601804	0.28534	.	.	ENSG00000198954	ENST00000361983	T	0.42900	0.96	5.73	2.82	0.32997	.	0.102956	0.64402	D	0.000002	T	0.17534	0.0421	N	0.05441	-0.05	0.31545	N	0.659403	B	0.02656	0.0	B	0.01281	0.0	T	0.27297	-1.0078	10	0.06099	T	0.92	-12.8014	8.5315	0.33337	0.1689:0.2585:0.5727:0.0	.	30	Q96EK5	KBP_HUMAN	N	30	ENSP00000354848:K30N	ENSP00000354848:K30N	K	+	3	2	KIAA1279	70418684	0.922000	0.31269	1.000000	0.80357	0.992000	0.81027	-0.005000	0.12855	0.781000	0.33589	0.650000	0.86243	AAG		0.622	KIAA1279-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048370.1	NM_015634		C	70748678	G	C	70748678	3	2	788	1	0	0	0	0	1	0	0	0	8223	991	35	4	92	4	KIAA1279	10	70748678	Missense_Mutation	SNP	G	TCGA-SX-A7SL-01A-11D-A34Z-10	56945024	70748678	64786069	41	46816											
OR4C13	283092	hgsc.bcm.edu	37	11	49974862	49974862	+	Silent	SNP	T	T	C			TCGA-SX-A7SL-01A-11D-A34Z-10	TCGA-SX-A7SL-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e274845c-65ec-4db0-89f9-7d502ac2e427	e96052fd-169c-4e27-bd82-a5b6c796da53	g.chr11:49974862T>C	ENST00000555099.1	+	1	920	c.888T>C	c.(886-888)atT>atC	p.I296I		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	296						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						AAAATGCCATTAGGAAATTGT	0.378																																																0													42	42	42					11																	49974862		2192	4292	6484	SO:0001819	synonymous_variant	283092			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.888T>C	chr11.hg19:g.49974862T>C			A6NJJ3|B9EH30|Q6IF48|Q96R68	Silent	SNP	ENST00000555099.1	hg19	CCDS31495.1																																																																																				0.378	OR4C13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391103.1	NM_001001955		C	49974862	T	C	49974862	2	2	788	1	0	0	0	0	0	0	0	1	11049	1742	61	3		3	OR4C13	11	49974862	Silent	SNP	T	TCGA-SX-A7SL-01A-11D-A34Z-10		49974862	85031654	42	46817											
CASP4	837	hgsc.bcm.edu	37	11	104819264	104819264	+	Silent	SNP	C	C	T	rs552187293		TCGA-SX-A7SL-01A-11D-A34Z-10	TCGA-SX-A7SL-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e274845c-65ec-4db0-89f9-7d502ac2e427	e96052fd-169c-4e27-bd82-a5b6c796da53	g.chr11:104819264C>T	ENST00000444739.2	-	6	1831	c.921G>A	c.(919-921)acG>acA	p.T307T	CASP4_ENST00000393150.3_Silent_p.T251T|CASP4_ENST00000531333.1_5'Flank	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	307					apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|IPAF inflammasome complex (GO:0072557)|membrane (GO:0016020)|mitochondrion (GO:0005739)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activity (GO:0004197)	p.T307T(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		ACATACGTGGCGTTGAAGAGC	0.448													c|||	1	0.000199681	0.0	0.0	5008	,	,		20358	0.0		0.0	False		,,,				2504	0.001															1	Substitution - coding silent(1)	large_intestine(1)											133	97	109					11																	104819264		2202	4299	6501	SO:0001819	synonymous_variant	837			U25804	CCDS8327.1, CCDS41704.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000196954	ENSG00000196954		"Caspases"	1505	protein-coding gene	gene with protein product		602664	"caspase 4, apoptosis-related cysteine protease"			7797510, 9250871	Standard	NM_001225		Approved	ICE(rel)II, ICH-2, TX	uc001pid.1	P49662	OTTHUMG00000166078	ENST00000444739.2:c.921G>A	chr11.hg19:g.104819264C>T			A2NHL8|A2NHM0	Silent	SNP	ENST00000444739.2	hg19	CCDS8327.1																																																																																				0.448	CASP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387751.1	NM_001225		T	104819264	C	T	104819264	2	4	788	1	0	0	0	0	0	0	0	1	2675	755	27	1		1	CASP4	11	104819264	Silent	SNP	C	TCGA-SX-A7SL-01A-11D-A34Z-10	54844402	104819264	30187252	43	46818											
NCAPD3	23310	hgsc.bcm.edu	37	11	134023240	134023240	+	Missense_Mutation	SNP	G	G	A			TCGA-SX-A7SL-01A-11D-A34Z-10	TCGA-SX-A7SL-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e274845c-65ec-4db0-89f9-7d502ac2e427	e96052fd-169c-4e27-bd82-a5b6c796da53	g.chr11:134023240G>A	ENST00000534548.2	-	33	4335	c.4271C>T	c.(4270-4272)aCg>aTg	p.T1424M	NCAPD3_ENST00000526787.2_5'UTR	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1424					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)		TGCTCCAAACGTGACATCACT	0.542																																																0													212	176	188					11																	134023240		2201	4297	6498	SO:0001583	missense	23310			AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.4271C>T	chr11.hg19:g.134023240G>A	ENSP00000433681:p.Thr1424Met		A6NFS2|Q4KMQ9	Missense_Mutation	SNP	ENST00000534548.2	hg19	CCDS31723.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.140591	0.77775	.	.	ENSG00000151503	ENST00000534548	T	0.48522	0.81	5.44	5.44	0.79542	.	0.052095	0.85682	D	0.000000	T	0.68091	0.2963	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.69142	0.962;0.948	T	0.70204	-0.4936	10	0.87932	D	0	-18.9547	19.206	0.93730	0.0:0.0:1.0:0.0	.	1424;484	P42695;Q96FA6	CNDD3_HUMAN;.	M	1424	ENSP00000433681:T1424M	ENSP00000433681:T1424M	T	-	2	0	NCAPD3	133528450	1.000000	0.71417	0.914000	0.36105	0.773000	0.43773	6.493000	0.73658	2.712000	0.92718	0.561000	0.74099	ACG		0.542	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		A	134023240	G	A	134023240	3	1	788	1	0	0	0	0	1	0	0	0	10208	1145	40	1	237	1	NCAPD3	11	134023240	Missense_Mutation	SNP	G	TCGA-SX-A7SL-01A-11D-A34Z-10	29203976	134023240	983276	44	46819											
CLEC1A	51267	hgsc.bcm.edu	37	12	10251473	10251480	+	Frame_Shift_Del	DEL	CCCCATCA	CCCCATCA	-	rs553428572		TCGA-SX-A7SL-01A-11D-A34Z-10	TCGA-SX-A7SL-10A-01D-A34Z-10	CCCCATCA	CCCCATCA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e274845c-65ec-4db0-89f9-7d502ac2e427	e96052fd-169c-4e27-bd82-a5b6c796da53	g.chr12:10251473_10251480delCCCCATCA	ENST00000315330.4	-	1	104_111	c.42_49delTGATGGGG	c.(40-51)gatgatggggacfs	p.DDGD14fs	CLEC1A_ENST00000420265.2_Frame_Shift_Del_p.DDGD14fs|CLEC1A_ENST00000457018.2_Frame_Shift_Del_p.DDGD14fs	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN	C-type lectin domain family 1, member A	14					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						ATGGTGGTGTCCCCATCATCATCCAGCA	0.591																																																0																																										SO:0001589	frameshift_variant	51267			AY358587	CCDS8612.1, CCDS73443.1	12p13.31	2005-02-09				ENSG00000150048		"C-type lectin domain containing"	24355	protein-coding gene	gene with protein product		606782				10671229, 11745369	Standard	XM_005253383		Approved	CLEC1, MGC34328	uc001qxb.3	Q8NC01		ENST00000315330.4:c.42_49delTGATGGGG	chr12.hg19:g.10251473_10251480delCCCCATCA	ENSP00000326407:p.Asp14fs		Q8IUW7|Q9NZH3	Frame_Shift_Del	DEL	ENST00000315330.4	hg19	CCDS8612.1																																																																																				0.591	CLEC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399924.1	NM_016511		-	10251480	CCCCATCA	-	10251473	7	5	788	1	0	1	0	1	0	0	0	0	3507	855	30	0	817	0	CLEC1A	12	10251473	Frame_Shift_Del	DEL	CCCCATCA	TCGA-SX-A7SL-01A-11D-A34Z-10		10251473	123600422	45	46820											
BCDIN3D	144233	hgsc.bcm.edu	37	12	50232203	50232203	+	Missense_Mutation	SNP	A	A	T			TCGA-SX-A7SL-01A-11D-A34Z-10	TCGA-SX-A7SL-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e274845c-65ec-4db0-89f9-7d502ac2e427	e96052fd-169c-4e27-bd82-a5b6c796da53	g.chr12:50232203A>T	ENST00000333924.4	-	2	871	c.830T>A	c.(829-831)cTg>cAg	p.L277Q	BCDIN3D-AS1_ENST00000548872.1_RNA|BCDIN3D-AS1_ENST00000549124.1_RNA	NM_181708.2	NP_859059.1	Q7Z5W3	BN3D2_HUMAN	BCDIN3 domain containing	277					miRNA metabolic process (GO:0010586)|negative regulation of pre-miRNA processing (GO:2000632)|RNA methylation (GO:0001510)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	O-methyltransferase activity (GO:0008171)|RNA methyltransferase activity (GO:0008173)			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)	9						TTTTTCTATCAGTGATTCAGG	0.403																																																0													140	137	138					12																	50232203		2203	4300	6503	SO:0001583	missense	144233				CCDS8790.1	12q13.13	2008-03-12				ENSG00000186666			27050	protein-coding gene	gene with protein product							Standard	NM_181708		Approved		uc001rvh.3	Q7Z5W3	OTTHUMG00000169807	ENST00000333924.4:c.830T>A	chr12.hg19:g.50232203A>T	ENSP00000335201:p.Leu277Gln		A8K829	Missense_Mutation	SNP	ENST00000333924.4	hg19	CCDS8790.1	.	.	.	.	.	.	.	.	.	.	A	11.25	1.583428	0.28268	.	.	ENSG00000186666	ENST00000333924	T	0.50277	0.75	4.35	0.717	0.18196	.	1.385570	0.04949	N	0.460066	T	0.29256	0.0728	N	0.14661	0.345	0.09310	N	1	B	0.13145	0.007	B	0.14578	0.011	T	0.26430	-1.0103	10	0.59425	D	0.04	-17.2455	2.4992	0.04629	0.5719:0.0:0.2253:0.2029	.	277	Q7Z5W3	BN3D2_HUMAN	Q	277	ENSP00000335201:L277Q	ENSP00000335201:L277Q	L	-	2	0	BCDIN3D	48518470	0.000000	0.05858	0.006000	0.13384	0.768000	0.43524	0.590000	0.23954	0.117000	0.18138	0.402000	0.26972	CTG		0.403	BCDIN3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405982.1	NM_181708		T	50232203	A	T	50232203	3	4	788	1	0	0	0	0	1	0	0	0	1357	188	7	5	52	5	BCDIN3D	12	50232203	Missense_Mutation	SNP	A	TCGA-SX-A7SL-01A-11D-A34Z-10	39980730	50232203	83619692	46	46821											
OBFC2B	79035	hgsc.bcm.edu	37	12	56619250	56619250	+	Missense_Mutation	SNP	T	T	C			TCGA-SX-A7SL-01A-11D-A34Z-10	TCGA-SX-A7SL-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e274845c-65ec-4db0-89f9-7d502ac2e427	e96052fd-169c-4e27-bd82-a5b6c796da53	g.chr12:56619250T>C	ENST00000380198.2	+	2	671	c.173T>C	c.(172-174)gTt>gCt	p.V58A	NABP2_ENST00000267023.4_Missense_Mutation_p.V58A|NABP2_ENST00000341463.5_Missense_Mutation_p.V58A			Q9BQ15	SOSB1_HUMAN	nucleic acid binding protein 2	58					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)										TGGGACGATGTTGGCAATCTG	0.537																																																0													180	154	163					12																	56619250		2203	4300	6503	SO:0001583	missense	79035			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.173T>C	chr12.hg19:g.56619250T>C	ENSP00000369545:p.Val58Ala		A6NDF8|Q6XYC8	Missense_Mutation	SNP	ENST00000380198.2	hg19	CCDS8911.1	.	.	.	.	.	.	.	.	.	.	T	11.40	1.628069	0.28978	.	.	ENSG00000139579	ENST00000447747;ENST00000399713;ENST00000267023;ENST00000380198;ENST00000341463	T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62	4.59	3.44	0.39384	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);Nucleic acid binding, OB-fold, tRNA/helicase-type (1);	0.096640	0.39759	N	0.001268	T	0.16896	0.0406	N	0.14661	0.345	0.40726	D	0.982701	B;B;B	0.21452	0.056;0.034;0.014	B;B;B	0.25759	0.026;0.044;0.063	T	0.07927	-1.0747	10	0.25751	T	0.34	-14.59	8.9473	0.35767	0.0:0.0914:0.0:0.9086	.	58;58;58	C9JT95;C9JMP5;Q9BQ15	.;.;SOSB1_HUMAN	A	58	ENSP00000413902:V58A;ENSP00000408616:V58A;ENSP00000267023:V58A;ENSP00000369545:V58A;ENSP00000368862:V58A	ENSP00000267023:V58A	V	+	2	0	OBFC2B	54905517	1.000000	0.71417	0.987000	0.45799	0.757000	0.42996	6.043000	0.71004	1.852000	0.53769	0.374000	0.22700	GTT		0.537	NABP2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326610.1	NM_024068		C	56619250	T	C	56619250	3	2	788	1	0	0	0	0	1	0	0	0	10811	1725	60	3	179	3	OBFC2B	12	56619250	Missense_Mutation	SNP	T	TCGA-SX-A7SL-01A-11D-A34Z-10	6387047	56619250	77232645	47	46822											
NXPH4	11247	hgsc.bcm.edu	37	12	57619136	57619140	+	Frame_Shift_Del	DEL	CTACG	CTACG	-			TCGA-SX-A7SL-01A-11D-A34Z-10	TCGA-SX-A7SL-10A-01D-A34Z-10	CTACG	CTACG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e274845c-65ec-4db0-89f9-7d502ac2e427	e96052fd-169c-4e27-bd82-a5b6c796da53	g.chr12:57619136_57619140delCTACG	ENST00000349394.5	+	2	708_712	c.533_537delCTACG	c.(532-537)tctacgfs	p.ST178fs	NXPH4_ENST00000555154.1_3'UTR|Y_RNA_ENST00000365197.1_RNA	NM_007224.3	NP_009155.1	O95158	NXPH4_HUMAN	neurexophilin 4	178	IV (linker domain).				neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	10						CCTCTGCAGTCTACGCTCGCCCTGG	0.732																																																0																																										SO:0001589	frameshift_variant	11247			AF043469	CCDS8933.1	12q13.3	2014-09-04			ENSG00000182379	ENSG00000182379			8078	protein-coding gene	gene with protein product		604637				9570794	Standard	NM_007224		Approved	NPH4	uc009zpj.4	O95158	OTTHUMG00000171241	ENST00000349394.5:c.533_537delCTACG	chr12.hg19:g.57619136_57619140delCTACG	ENSP00000333593:p.Ser178fs		A8K4I4|Q7Z6L3|Q8N462	Frame_Shift_Del	DEL	ENST00000349394.5	hg19	CCDS8933.1																																																																																				0.732	NXPH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412474.1	NM_007224		-	57619140	CTACG	-	57619136	7	5	788	1	0	1	0	1	0	0	0	0	10795	913	32	0	539	0	NXPH4	12	57619136	Frame_Shift_Del	DEL	CTACG	TCGA-SX-A7SL-01A-11D-A34Z-10	999886	57619136	76232759	48	46823											
KIF5A	3798	hgsc.bcm.edu	37	12	57963875	57963875	+	Missense_Mutation	SNP	G	G	A			TCGA-SX-A7SL-01A-11D-A34Z-10	TCGA-SX-A7SL-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e274845c-65ec-4db0-89f9-7d502ac2e427	e96052fd-169c-4e27-bd82-a5b6c796da53	g.chr12:57963875G>A	ENST00000455537.2	+	12	1497	c.1223G>A	c.(1222-1224)cGc>cAc	p.R408H	KIF5A_ENST00000286452.5_Missense_Mutation_p.R319H	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	408					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						ATCGTGGTGCGCATCGCGCCC	0.627																																																0													57	45	49					12																	57963875		2203	4300	6503	SO:0001583	missense	3798			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.1223G>A	chr12.hg19:g.57963875G>A	ENSP00000408979:p.Arg408His		A6H8M5|Q4LE26	Missense_Mutation	SNP	ENST00000455537.2	hg19	CCDS8945.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.496792	0.26861	.	.	ENSG00000155980	ENST00000455537;ENST00000286452	T;T	0.76968	-1.06;-1.06	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.67933	0.2946	N	0.25890	0.77	0.58432	D	0.999996	B;B	0.15719	0.007;0.014	B;B	0.08055	0.003;0.003	T	0.63332	-0.6661	10	0.40728	T	0.16	.	17.1515	0.86779	0.0:0.0:1.0:0.0	.	319;408	B7Z2M7;Q12840	.;KIF5A_HUMAN	H	408;319	ENSP00000408979:R408H;ENSP00000286452:R319H	ENSP00000286452:R319H	R	+	2	0	KIF5A	56250142	1.000000	0.71417	0.999000	0.59377	0.062000	0.15995	4.074000	0.57577	2.667000	0.90743	0.655000	0.94253	CGC		0.627	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		A	57963875	G	A	57963875	3	1	788	1	0	0	0	0	1	0	0	0	8307	1087	38	1	1269	1	KIF5A	12	57963875	Missense_Mutation	SNP	G	TCGA-SX-A7SL-01A-11D-A34Z-10	344739	57963875	75888020	49	46824											
FICD	11153	hgsc.bcm.edu	37	12	108913231	108913231	+	Missense_Mutation	SNP	G	G	C			TCGA-SX-A7SL-01A-11D-A34Z-10	TCGA-SX-A7SL-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e274845c-65ec-4db0-89f9-7d502ac2e427	e96052fd-169c-4e27-bd82-a5b6c796da53	g.chr12:108913231G>C	ENST00000552695.1	+	3	1591	c.1356G>C	c.(1354-1356)gaG>gaC	p.E452D	FICD_ENST00000361549.2_3'UTR	NM_007076.2	NP_009007.2	Q9BVA6	FICD_HUMAN	FIC domain containing	452					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						GGTTCAAGGAGACGCTTCCTG	0.498																																																0													48	40	43					12																	108913231		2203	4300	6503	SO:0001583	missense	11153			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.1356G>C	chr12.hg19:g.108913231G>C	ENSP00000446479:p.Glu452Asp		O75406	Missense_Mutation	SNP	ENST00000552695.1	hg19	CCDS9116.1	.	.	.	.	.	.	.	.	.	.	G	13.88	2.369148	0.42003	.	.	ENSG00000198855	ENST00000552695	.	.	.	6.02	4.21	0.49690	.	0.212676	0.50627	D	0.000109	T	0.29652	0.0740	N	0.08118	0	0.80722	D	1	B	0.27791	0.189	B	0.22386	0.039	T	0.09314	-1.0680	9	0.48119	T	0.1	-14.3343	8.8477	0.35181	0.2969:0.0:0.7031:0.0	.	452	Q9BVA6	FICD_HUMAN	D	452	.	ENSP00000446479:E452D	E	+	3	2	FICD	107437361	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.997000	0.40786	0.891000	0.36235	-0.136000	0.14681	GAG		0.498	FICD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404842.1	NM_007076		C	108913231	G	C	108913231	3	2	788	1	0	0	0	0	1	0	0	0	5889	933	33	4	1362	4	FICD	12	108913231	Missense_Mutation	SNP	G	TCGA-SX-A7SL-01A-11D-A34Z-10	50949356	108913231	24938664	50	46825											
ZNF828	283489	hgsc.bcm.edu	37	13	115091586	115091586	+	Missense_Mutation	SNP	G	G	A			TCGA-SX-A7SL-01A-11D-A34Z-10	TCGA-SX-A7SL-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e274845c-65ec-4db0-89f9-7d502ac2e427	e96052fd-169c-4e27-bd82-a5b6c796da53	g.chr13:115091586G>A	ENST00000361283.1	+	3	2578	c.2269G>A	c.(2269-2271)Gta>Ata	p.V757I		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	757	Mediates localization to the chromosome and the spindle and negatively regulates chromosome alignment.				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)										TAAAAATCATGTAGCAGCCCA	0.348																																																0													69	71	70					13																	115091586		2203	4300	6503	SO:0001583	missense	283489			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.2269G>A	chr13.hg19:g.115091586G>A	ENSP00000354730:p.Val757Ile		B3KU06|Q6P181|Q8NC88|Q9BST0	Missense_Mutation	SNP	ENST00000361283.1	hg19	CCDS9545.1	.	.	.	.	.	.	.	.	.	.	g	16.10	3.026411	0.54683	.	.	ENSG00000198824	ENST00000361283	T	0.41400	1.0	5.81	4.96	0.65561	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.53938	D	0.000057	T	0.37073	0.0990	L	0.31845	0.965	0.29635	N	0.845125	D	0.55605	0.972	P	0.48334	0.574	T	0.25882	-1.0119	9	.	.	.	-10.4679	10.7799	0.46371	0.0695:0.1292:0.8013:0.0	.	757	Q96JM3	ZN828_HUMAN	I	757	ENSP00000354730:V757I	.	V	+	1	0	ZNF828	114109688	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.615000	0.46368	2.746000	0.94184	0.655000	0.94253	GTA		0.348	CHAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045977.2	NM_032436		A	115091586	G	A	115091586	3	1	788	1	0	0	0	0	1	0	0	0	18186	1377	48	2	2271	2	ZNF828	13	115091586	Missense_Mutation	SNP	G	TCGA-SX-A7SL-01A-11D-A34Z-10		115091586	78292	51	46826											
C14orf102	55051	hgsc.bcm.edu	37	14	90755068	90755068	+	Missense_Mutation	SNP	T	T	C			TCGA-SX-A7SL-01A-11D-A34Z-10	TCGA-SX-A7SL-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e274845c-65ec-4db0-89f9-7d502ac2e427	e96052fd-169c-4e27-bd82-a5b6c796da53	g.chr14:90755068T>C	ENST00000354366.3	-	11	2883	c.2651A>G	c.(2650-2652)gAc>gGc	p.D884G	NRDE2_ENST00000357904.3_Missense_Mutation_p.D653G	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	884																	ACCCAAACAGTCCTGCAGTGC	0.527																																																0													61	60	60					14																	90755068		2203	4300	6503	SO:0001583	missense	55051			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.2651A>G	chr14.hg19:g.90755068T>C	ENSP00000346335:p.Asp884Gly		B4DH71|Q4G0A7|Q9NWH6	Missense_Mutation	SNP	ENST00000354366.3	hg19	CCDS9890.1	.	.	.	.	.	.	.	.	.	.	T	9.884	1.202458	0.22121	.	.	ENSG00000119720	ENST00000354366;ENST00000357904	T;T	0.32515	1.85;1.45	5.1	3.91	0.45181	.	0.183302	0.46442	D	0.000284	T	0.27731	0.0682	M	0.72118	2.19	0.42839	D	0.994042	P;P	0.40144	0.704;0.495	B;B	0.30401	0.115;0.106	T	0.08207	-1.0733	10	0.25751	T	0.34	-33.9301	11.8658	0.52493	0.0:0.0:0.1464:0.8536	.	653;884	E9PBK4;Q9H7Z3	.;CN102_HUMAN	G	884;653	ENSP00000346335:D884G;ENSP00000350579:D653G	ENSP00000346335:D884G	D	-	2	0	C14orf102	89824821	1.000000	0.71417	0.979000	0.43373	0.044000	0.14063	1.437000	0.34991	0.916000	0.36871	0.528000	0.53228	GAC		0.527	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411264.1	NM_017970		C	90755068	T	C	90755068	3	2	788	1	0	0	0	0	1	0	0	0	1737	1667	58	3	859	3	C14orf102	14	90755068	Missense_Mutation	SNP	T	TCGA-SX-A7SL-01A-11D-A34Z-10		90755068	16594472	52	46827											
MAPK6	5597	hgsc.bcm.edu	37	15	52357196	52357196	+	Nonstop_Mutation	SNP	A	A	T			TCGA-SX-A7SL-01A-11D-A34Z-10	TCGA-SX-A7SL-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e274845c-65ec-4db0-89f9-7d502ac2e427	e96052fd-169c-4e27-bd82-a5b6c796da53	g.chr15:52357196A>T	ENST00000261845.5	+	6	2972	c.2165A>T	c.(2164-2166)tAa>tTa	p.*722L	CTD-2184D3.5_ENST00000558607.1_RNA	NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	0					cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		CATCTGAACTAAAACACTCAG	0.338																																																0													36	38	38					15																	52357196		2135	4102	6237	SO:0001578	stop_lost	5597			L77964	CCDS10147.1	15q21	2011-06-10			ENSG00000069956	ENSG00000069956		"Mitogen-activated protein kinase cascade / Kinases"	6879	protein-coding gene	gene with protein product		602904		PRKM6		8875998	Standard	NM_002748		Approved	ERK3, p97MAPK, HsT17250	uc002abp.3	Q16659	OTTHUMG00000131891	ENST00000261845.5:c.2165A>T	chr15.hg19:g.52357196A>T	ENSP00000261845:p.*722Leuext*24		B2R945|B5BU65|Q68DH4|Q8IYN8	Missense_Mutation	SNP	ENST00000261845.5	hg19	CCDS10147.1	.	.	.	.	.	.	.	.	.	.	A	11.66	1.706321	0.30232	.	.	ENSG00000069956	ENST00000261845	.	.	.	4.46	4.46	0.54185	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8766	0.63655	1.0:0.0:0.0:0.0	.	.	.	.	L	722	.	.	X	+	2	2	MAPK6	50144488	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.522000	0.53480	1.709000	0.51313	0.444000	0.29173	TAA		0.338	MAPK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254841.2	NM_002748		T	52357196	A	T	52357196	4	4	788	1	0	0	0	0	0	0	0	0	9283	369	13	5	2183	5	MAPK6	15	52357196	Nonstop_Mutation	SNP	A	TCGA-SX-A7SL-01A-11D-A34Z-10		52357196	50174196	53	46828											
DET1	55070	hgsc.bcm.edu	37	15	89074206	89074214	+	In_Frame_Del	DEL	ACCTGGAAG	ACCTGGAAG	-			TCGA-SX-A7SL-01A-11D-A34Z-10	TCGA-SX-A7SL-10A-01D-A34Z-10	ACCTGGAAG	ACCTGGAAG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e274845c-65ec-4db0-89f9-7d502ac2e427	e96052fd-169c-4e27-bd82-a5b6c796da53	g.chr15:89074206_89074214delACCTGGAAG	ENST00000268148.8	-	2	868_876	c.723_731delCTTCCAGGT	c.(721-732)gtcttccaggtg>gtg	p.241_244VFQV>V	DET1_ENST00000559656.1_5'Flank|DET1_ENST00000564406.1_In_Frame_Del_p.252_255VFQV>V|DET1_ENST00000444300.1_In_Frame_Del_p.252_255VFQV>V|DET1_ENST00000558413.1_Splice_Site_p.A92del	NM_001144074.1	NP_001137546.1	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	241						nucleus (GO:0005634)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			TTCAGGAGTCACCTGGAAGACATGGATGG	0.502																																																0																																										SO:0001651	inframe_deletion	55070			BC001242	CCDS45343.1, CCDS45344.1	15q25.3	2004-12-13				ENSG00000140543			25477	protein-coding gene	gene with protein product		608727				14739464	Standard	NM_001144074		Approved	FLJ10103	uc002bmq.2	Q7L5Y6		ENST00000268148.8:c.723_731delCTTCCAGGT	chr15.hg19:g.89074206_89074214delACCTGGAAG	ENSP00000268148:p.Val241_Gln243del		B3KNN6|Q2VPC0|Q9NWD5	In_Frame_Del	DEL	ENST00000268148.8	hg19	CCDS45344.1																																																																																				0.502	DET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415442.2	NM_017996		-	89074214	ACCTGGAAG	-	89074206	7	5	788	1	0	1	0	1	0	0	0	0	4452	159	6	0	937	0	DET1	15	89074206	In_Frame_Del	DEL	ACCTGGAAG	TCGA-SX-A7SL-01A-11D-A34Z-10	36717010	89074206	13457186	54	46829											
MPG	4350	hgsc.bcm.edu	37	16	135675	135675	+	Missense_Mutation	SNP	C	C	A			TCGA-SX-A7SL-01A-11D-A34Z-10	TCGA-SX-A7SL-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e274845c-65ec-4db0-89f9-7d502ac2e427	e96052fd-169c-4e27-bd82-a5b6c796da53	g.chr16:135675C>A	ENST00000219431.4	+	5	1027	c.796C>A	c.(796-798)Cat>Aat	p.H266N	MPG_ENST00000397817.1_Missense_Mutation_p.H249N|NPRL3_ENST00000405960.3_5'Flank	NM_002434.3	NP_002425.2	P29372	3MG_HUMAN	N-methylpurine-DNA glycosylase	266					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)				GGGCGTCGGCCATGCAGGGGA	0.677								Base excision repair (BER), DNA glycosylases																																								0													19	22	21					16																	135675		2201	4299	6500	SO:0001583	missense	4350				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.796C>A	chr16.hg19:g.135675C>A	ENSP00000219431:p.His266Asn		G5E9E2|Q13770|Q15275|Q15961|Q5J9I4|Q96BZ6|Q96S33|Q9NNX5	Missense_Mutation	SNP	ENST00000219431.4	hg19	CCDS32346.1	.	.	.	.	.	.	.	.	.	.	C	4.676	0.125740	0.08931	.	.	ENSG00000103152	ENST00000436333;ENST00000397817;ENST00000356432;ENST00000219431	T;T;T;T	0.15718	2.4;2.4;2.4;2.4	5.39	-10.8	0.00216	Formyl transferase, C-terminal-like (1);	0.916781	0.09550	N	0.787006	T	0.03178	0.0093	N	0.01729	-0.75	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.25047	-1.0143	10	0.15066	T	0.55	-18.2344	1.8122	0.03092	0.3214:0.2239:0.0751:0.3795	.	261;266	Q5J9I4;P29372	.;3MG_HUMAN	N	249;249;261;266	ENSP00000388097:H249N;ENSP00000380918:H249N;ENSP00000348809:H261N;ENSP00000219431:H266N	ENSP00000219431:H266N	H	+	1	0	MPG	75675	0.000000	0.05858	0.000000	0.03702	0.265000	0.26407	-0.133000	0.10451	-2.198000	0.00749	-0.505000	0.04504	CAT		0.677	MPG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109121.4			A	135675	C	A	135675	3	1	788	1	0	0	0	0	1	0	0	0	9726	594	21	4	838	4	MPG	16	135675	Missense_Mutation	SNP	C	TCGA-SX-A7SL-01A-11D-A34Z-10		135675	90219078	55	46830											
CRAMP1L	57585	hgsc.bcm.edu	37	16	1717963	1717963	+	Splice_Site	SNP	G	G	A			TCGA-SX-A7SL-01A-11D-A34Z-10	TCGA-SX-A7SL-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e274845c-65ec-4db0-89f9-7d502ac2e427	e96052fd-169c-4e27-bd82-a5b6c796da53	g.chr16:1717963G>A	ENST00000397412.3	+	18	3202	c.3103G>A	c.(3103-3105)Ggc>Agc	p.G1035S	CRAMP1L_ENST00000436138.3_Splice_Site_p.G1032S|CRAMP1L_ENST00000293925.5_Splice_Site_p.G1035S|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000262317.4_Splice_Site_p.G413S			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	1035						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						CTCCCAGCAGGGCTCATCTGT	0.537																																																0													49	45	46					16																	1717963		2008	4186	6194	SO:0001630	splice_region_variant	57585			AB037847	CCDS10440.2	16p13.3	2008-07-30	2001-11-28		ENSG00000007545	ENSG00000007545			14122	protein-coding gene	gene with protein product			"Crm (Cramped Drosophila)-like"				Standard	NM_020825		Approved	KIAA1426	uc010uvh.2	Q96RY5	OTTHUMG00000074087	ENST00000397412.3:c.3103-1G>A	chr16.hg19:g.1717963G>A			A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Missense_Mutation	SNP	ENST00000397412.3	hg19	CCDS10440.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.636|9.636	1.137722|1.137722	0.21123|0.21123	.|.	.|.	ENSG00000007545|ENSG00000007545	ENST00000415022|ENST00000397412;ENST00000293925;ENST00000436138;ENST00000262317	.|.	.|.	.|.	5.86|5.86	3.88|3.88	0.44766|0.44766	.|.	0.761849|0.761849	0.12840|0.12840	N|N	0.434905|0.434905	T|T	0.44180|0.44180	0.1281|0.1281	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	.|B	.|0.23249	.|0.082	.|B	.|0.28011	.|0.085	T|T	0.12708|0.12708	-1.0537|-1.0537	6|8	.|.	.|.	.|.	-3.5501|-3.5501	9.7444|9.7444	0.40437|0.40437	0.0756:0.1391:0.7853:0.0|0.0756:0.1391:0.7853:0.0	.|.	.|1035	.|Q96RY5	.|CRML_HUMAN	E|S	135|1035;1035;1032;413	.|.	.|.	G|G	+|+	2|1	0|0	CRAMP1L|CRAMP1L	1657964|1657964	0.995000|0.995000	0.38212|0.38212	0.655000|0.655000	0.29622|0.29622	0.263000|0.263000	0.26337|0.26337	2.508000|2.508000	0.45450|0.45450	0.786000|0.786000	0.33708|0.33708	0.650000|0.650000	0.86243|0.86243	GGG|GGC		0.537	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157297.4		Missense_Mutation	A	1717963	G	A	1717963	5	1	788	1	0	0	0	0	0	0	1	0	3848	1246	43	2	3169	2	CRAMP1L	16	1717963	Splice_Site	SNP	G	TCGA-SX-A7SL-01A-11D-A34Z-10	1582288	1717963	88636790	56	46831											
HN1L	90861	hgsc.bcm.edu	37	16	1735486	1735486	+	Frame_Shift_Del	DEL	C	C	-			TCGA-SX-A7SL-01A-11D-A34Z-10	TCGA-SX-A7SL-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e274845c-65ec-4db0-89f9-7d502ac2e427	e96052fd-169c-4e27-bd82-a5b6c796da53	g.chr16:1735486delC	ENST00000248098.3	+	2	148	c.91delC	c.(91-93)ccafs	p.P31fs	LA16c-431H6.6_ENST00000454337.1_3'UTR|HN1L_ENST00000382710.4_Frame_Shift_Del_p.P19fs|HN1L_ENST00000561516.1_Frame_Shift_Del_p.P31fs|HN1L_ENST00000562684.1_Frame_Shift_Del_p.P59fs|HN1L_ENST00000569765.1_Frame_Shift_Del_p.P59fs|HN1L_ENST00000382711.5_Frame_Shift_Del_p.P15fs|HN1L_ENST00000569256.1_Intron	NM_144570.2	NP_653171.1	Q9H910	HN1L_HUMAN	hematological and neurological expressed 1-like	31						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|kidney(2)|lung(3)|upper_aerodigestive_tract(1)	9						TTTTGGAAGTCCAGAAGAAGC	0.478																																																0													89	86	87					16																	1735486		2199	4300	6499	SO:0001589	frameshift_variant	90861			AK023154	CCDS10441.1	16p13.3	2006-12-13	2006-12-13	2006-12-13	ENSG00000206053	ENSG00000206053			14137	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 34"	C16orf34		15094197	Standard	NM_144570		Approved	FLJ13092, L11, KIAA1426	uc002cmg.3	Q9H910	OTTHUMG00000047859	ENST00000248098.3:c.91delC	chr16.hg19:g.1735486delC	ENSP00000248098:p.Pro31fs		B1AJY2|Q6EIC7	Frame_Shift_Del	DEL	ENST00000248098.3	hg19	CCDS10441.1																																																																																				0.478	HN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109086.2	NM_144570		-	1735486	C	-	1735486	7	5	788	1	0	1	0	1	0	0	0	0	7252	855	30	0	97	0	HN1L	16	1735486	Frame_Shift_Del	DEL	C	TCGA-SX-A7SL-01A-11D-A34Z-10	17523	1735486	88619267	57	46832											
RPGRIP1L	23322	hgsc.bcm.edu	37	16	53674983	53674984	+	Frame_Shift_Ins	INS	-	-	A			TCGA-SX-A7SL-01A-11D-A34Z-10	TCGA-SX-A7SL-10A-01D-A34Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e274845c-65ec-4db0-89f9-7d502ac2e427	e96052fd-169c-4e27-bd82-a5b6c796da53	g.chr16:53674983_53674984insA	ENST00000379925.3	-	19	2969_2970	c.2919_2920insT	c.(2917-2922)aagaagfs	p.K974fs	RPGRIP1L_ENST00000563746.1_Frame_Shift_Ins_p.K974fs|RPGRIP1L_ENST00000564374.1_Frame_Shift_Ins_p.K974fs|RPGRIP1L_ENST00000568009.1_5'Flank|RPGRIP1L_ENST00000262135.4_Frame_Shift_Ins_p.K974fs	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	974					camera-type eye development (GO:0043010)|cerebellum development (GO:0021549)|cilium assembly (GO:0042384)|corpus callosum development (GO:0022038)|determination of left/right symmetry (GO:0007368)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment or maintenance of cell polarity (GO:0007163)|head development (GO:0060322)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lateral ventricle development (GO:0021670)|liver development (GO:0001889)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neural tube patterning (GO:0021532)|nose development (GO:0043584)|olfactory bulb development (GO:0021772)|pericardium development (GO:0060039)|regulation of smoothened signaling pathway (GO:0008589)	axoneme (GO:0005930)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	thromboxane A2 receptor binding (GO:0031870)			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				AAAGATACCTTCTTATCTACAG	0.337																																																0																																										SO:0001589	frameshift_variant	23322				CCDS32447.1, CCDS45486.1	16q12.2	2014-09-17				ENSG00000103494			29168	protein-coding gene	gene with protein product	"fantom homolog", "Meckel syndrome, type 5", "protein phosphatase 1, regulatory subunit 134"	610937				10231032	Standard	NM_015272		Approved	KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134	uc002ehp.3	Q68CZ1		ENST00000379925.3:c.2919_2920insT	chr16.hg19:g.53674983_53674984insA	ENSP00000369257:p.Lys974fs		A0PJ88|Q9Y2K8	Frame_Shift_Ins	INS	ENST00000379925.3	hg19	CCDS32447.1																																																																																				0.337	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422187.1	NM_015272		A	53674984	-	A	53674983	7	5	788	1	0	1	1	0	0	0	0	0	13556	1792	62	0	1063	0	RPGRIP1L	16	53674983	Frame_Shift_Ins	INS	-	TCGA-SX-A7SL-01A-11D-A34Z-10	51939497	53674983	36679770	58	46833											
WDR81	124997	hgsc.bcm.edu	37	17	1634163	1634164	+	Frame_Shift_Ins	INS	-	-	A			TCGA-SX-A7SL-01A-11D-A34Z-10	TCGA-SX-A7SL-10A-01D-A34Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e274845c-65ec-4db0-89f9-7d502ac2e427	e96052fd-169c-4e27-bd82-a5b6c796da53	g.chr17:1634163_1634164insA	ENST00000409644.1	+	3	3890_3891	c.3890_3891insA	c.(3889-3894)agctgcfs	p.SC1297fs	RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000446363.1_De_novo_Start_OutOfFrame|WDR81_ENST00000437219.2_Frame_Shift_Ins_p.SC94fs|WDR81_ENST00000545662.1_De_novo_Start_OutOfFrame|WDR81_ENST00000419248.1_Frame_Shift_Ins_p.SC70fs|WDR81_ENST00000309182.5_Frame_Shift_Ins_p.SC246fs	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1297					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)		CCTGTGCTCAGCTGCCTCCTCC	0.639																																																0																																										SO:0001589	frameshift_variant	124997			AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"WD repeat domain containing"	26600	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 166"	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	Exception_encountered	chr17.hg19:g.1634163_1634164insA	ENSP00000386609:p.Ser1297fs		B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Frame_Shift_Ins	INS	ENST00000409644.1	hg19	CCDS54062.1																																																																																				0.639	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333118.2	NM_152348		A	1634164	-	A	1634163	7	5	788	1	0	1	1	0	0	0	0	0	17335	971	34	0	3962	0	WDR81	17	1634163	Frame_Shift_Ins	INS	-	TCGA-SX-A7SL-01A-11D-A34Z-10		1634163	79561047	59	46834											
SGSM2	9905	hgsc.bcm.edu	37	17	2278871	2278878	+	Frame_Shift_Del	DEL	CCGGGACT	CCGGGACT	-	rs61739394	byFrequency	TCGA-SX-A7SL-01A-11D-A34Z-10	TCGA-SX-A7SL-10A-01D-A34Z-10	CCGGGACT	CCGGGACT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e274845c-65ec-4db0-89f9-7d502ac2e427	e96052fd-169c-4e27-bd82-a5b6c796da53	g.chr17:2278871_2278878delCCGGGACT	ENST00000426855.2	+	17	2226_2233	c.2051_2058delCCGGGACT	c.(2050-2058)cccgggactfs	p.PGT687fs	RP1-59D14.5_ENST00000573007.1_RNA|RP1-59D14.5_ENST00000574290.1_RNA|SGSM2_ENST00000574563.1_Frame_Shift_Del_p.PGT687fs|SGSM2_ENST00000268989.3_Frame_Shift_Del_p.PGT732fs	NM_001098509.1	NP_001091979.1	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	687	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				late endosome to Golgi transport (GO:0034499)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)	p.G730W(1)		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)		GAAGCAGGACCCGGGACTCCGGGCACCG	0.615																																																1	Substitution - Missense(1)	kidney(1)																																								SO:0001589	frameshift_variant	9905			BC039204	CCDS32526.1, CCDS45570.1	17p13.3	2013-07-10	2007-08-14	2007-08-14		ENSG00000141258		"Small G protein signaling modulators"	29026	protein-coding gene	gene with protein product		611418	"RUN and TBC1 domain containing 1"	RUTBC1		9455477, 17509819, 21808068	Standard	NM_014853		Approved	KIAA0397	uc002fum.4	O43147		ENST00000426855.2:c.2051_2058delCCGGGACT	chr17.hg19:g.2278871_2278878delCCGGGACT	ENSP00000415107:p.Pro687fs		A5LGW2|B4DH69|Q49AC2|Q6ZUY2|Q8IXU4	Frame_Shift_Del	DEL	ENST00000426855.2	hg19	CCDS45570.1																																																																																				0.615	SGSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438186.1	NM_014853		-	2278878	CCGGGACT	-	2278871	7	5	788	1	0	1	0	1	0	0	0	0	14229	623	22	0	2256	0	SGSM2	17	2278871	Frame_Shift_Del	DEL	CCGGGACT	TCGA-SX-A7SL-01A-11D-A34Z-10	644708	2278871	78916339	60	46835											
SGSM2	9905	hgsc.bcm.edu	37	17	2282478	2282480	+	In_Frame_Del	DEL	CAT	CAT	-	rs143690160		TCGA-SX-A7SL-01A-11D-A34Z-10	TCGA-SX-A7SL-10A-01D-A34Z-10	CAT	CAT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e274845c-65ec-4db0-89f9-7d502ac2e427	e96052fd-169c-4e27-bd82-a5b6c796da53	g.chr17:2282478_2282480delCAT	ENST00000426855.2	+	22	3088_3090	c.2913_2915delCAT	c.(2911-2916)gacatc>gac	p.I973del	RP1-59D14.5_ENST00000573007.1_RNA|RP1-59D14.5_ENST00000574290.1_RNA|SGSM2_ENST00000574563.1_In_Frame_Del_p.I973del|SGSM2_ENST00000268989.3_In_Frame_Del_p.I1018del	NM_001098509.1	NP_001091979.1	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	973					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)	p.I1018delI(1)		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)		ACTTCACTGACATCATCAAGTTT	0.581																																																1	Deletion - In frame(1)	large_intestine(1)																																								SO:0001651	inframe_deletion	9905			BC039204	CCDS32526.1, CCDS45570.1	17p13.3	2013-07-10	2007-08-14	2007-08-14		ENSG00000141258		"Small G protein signaling modulators"	29026	protein-coding gene	gene with protein product		611418	"RUN and TBC1 domain containing 1"	RUTBC1		9455477, 17509819, 21808068	Standard	NM_014853		Approved	KIAA0397	uc002fum.4	O43147		ENST00000426855.2:c.2913_2915delCAT	chr17.hg19:g.2282481_2282483delCAT	ENSP00000415107:p.Ile973del		A5LGW2|B4DH69|Q49AC2|Q6ZUY2|Q8IXU4	In_Frame_Del	DEL	ENST00000426855.2	hg19	CCDS45570.1																																																																																				0.581	SGSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438186.1	NM_014853		-	2282480	CAT	-	2282478	7	5	788	1	0	1	0	1	0	0	0	0	14229	477	17	0	3138	0	SGSM2	17	2282478	In_Frame_Del	DEL	CAT	TCGA-SX-A7SL-01A-11D-A34Z-10	3607	2282478	78912732	61	46836											
ANKFY1	51479	hgsc.bcm.edu	37	17	4087143	4087143	+	Nonsense_Mutation	SNP	G	G	A			TCGA-SX-A7SL-01A-11D-A34Z-10	TCGA-SX-A7SL-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e274845c-65ec-4db0-89f9-7d502ac2e427	e96052fd-169c-4e27-bd82-a5b6c796da53	g.chr17:4087143G>A	ENST00000341657.4	-	13	1797	c.1762C>T	c.(1762-1764)Cga>Tga	p.R588*	ANKFY1_ENST00000574367.1_Nonsense_Mutation_p.R588*|CYB5D2_ENST00000573984.1_Intron|ANKFY1_ENST00000573722.1_5'Flank|Y_RNA_ENST00000516003.1_RNA|ANKFY1_ENST00000570535.1_Nonsense_Mutation_p.R630*	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	588					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						GTCTGGTCTCGGGAATCTTTG	0.527																																																0													130	134	133					17																	4087143		1936	4146	6082	SO:0001587	stop_gained	51479			AB033081	CCDS42236.1, CCDS58502.1	17p13.3	2013-01-10			ENSG00000185722	ENSG00000185722		"Zinc fingers, FYVE domain containing", "BTB/POZ domain containing", "Ankyrin repeat domain containing"	20763	protein-coding gene	gene with protein product		607927				10940552, 17273843	Standard	NM_016376		Approved	ANKHZN, KIAA1255, ZFYVE14, BTBD23	uc002fxn.3	Q9P2R3	OTTHUMG00000177727	ENST00000341657.4:c.1762C>T	chr17.hg19:g.4087143G>A	ENSP00000343362:p.Arg588*		A8KA65|Q5RKV4|Q9ULG5	Nonsense_Mutation	SNP	ENST00000341657.4	hg19		.	.	.	.	.	.	.	.	.	.	G	36	5.646460	0.96704	.	.	ENSG00000185722	ENST00000341657;ENST00000535427	.	.	.	4.81	-0.265	0.12946	.	0.197229	0.41001	D	0.000965	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-0.3118	7.3258	0.26555	0.0923:0.0:0.3819:0.5258	.	.	.	.	X	588;529	.	ENSP00000343362:R588X	R	-	1	2	ANKFY1	4033892	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.230000	0.32612	0.388000	0.25054	0.467000	0.42956	CGA		0.527	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000438702.1	NM_016376		A	4087143	G	A	4087143	4	1	788	1	0	0	0	0	0	1	0	0	626	1124	39	1	1802	1	ANKFY1	17	4087143	Nonsense_Mutation	SNP	G	TCGA-SX-A7SL-01A-11D-A34Z-10	1804665	4087143	77108067	62	46837											
MYO18A	399687	hgsc.bcm.edu	37	17	27441098	27441098	+	Silent	SNP	C	C	A			TCGA-SX-A7SL-01A-11D-A34Z-10	TCGA-SX-A7SL-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e274845c-65ec-4db0-89f9-7d502ac2e427	e96052fd-169c-4e27-bd82-a5b6c796da53	g.chr17:27441098C>A	ENST00000527372.1	-	15	2709	c.2529G>T	c.(2527-2529)gcG>gcT	p.A843A	MYO18A_ENST00000354329.4_Silent_p.A843A|MYO18A_ENST00000533112.1_Silent_p.A843A|MYO18A_ENST00000531253.1_Silent_p.A843A	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	843	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)			AGTCGTCAAACGCCAGCTCGA	0.607																																					Esophageal Squamous(182;472 2015 7001 15270 22562)											0													39	47	45					17																	27441098		1988	4160	6148	SO:0001819	synonymous_variant	399687			D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"Myosins / Myosin superfamily : Class XVIII"	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.2529G>T	chr17.hg19:g.27441098C>A			Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Silent	SNP	ENST00000527372.1	hg19	CCDS45642.1																																																																																				0.607	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		A	27441098	C	A	27441098	2	1	788	1	0	0	0	0	0	0	0	1	10067	523	19	4		4	MYO18A	17	27441098	Silent	SNP	C	TCGA-SX-A7SL-01A-11D-A34Z-10	23353955	27441098	53754112	63	46838											
TMEM106A	113277	hgsc.bcm.edu	37	17	41365867	41365867	+	Missense_Mutation	SNP	G	G	T			TCGA-SX-A7SL-01A-11D-A34Z-10	TCGA-SX-A7SL-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e274845c-65ec-4db0-89f9-7d502ac2e427	e96052fd-169c-4e27-bd82-a5b6c796da53	g.chr17:41365867G>T	ENST00000331615.3	+	4	469	c.232G>T	c.(232-234)Gct>Tct	p.A78S	TMEM106A_ENST00000541594.1_Missense_Mutation_p.A30S|TMEM106A_ENST00000536052.1_Missense_Mutation_p.A78S|TMEM106A_ENST00000592564.1_3'UTR|TMEM106A_ENST00000588659.1_Missense_Mutation_p.A78S	NM_145041.1	NP_659478.1	Q96A25	T106A_HUMAN	transmembrane protein 106A	78						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11		Breast(137;0.0164)		BRCA - Breast invasive adenocarcinoma(366;0.0917)		GCAGTTGGTGGCTCTCATTCC	0.572																																																0													103	80	88					17																	41365867		2203	4296	6499	SO:0001583	missense	113277			AK056132	CCDS11462.1, CCDS74073.1	17q21.31	2012-01-23			ENSG00000184988	ENSG00000184988			28288	protein-coding gene	gene with protein product							Standard	XM_006721658		Approved	MGC20235	uc002idn.1	Q96A25		ENST00000331615.3:c.232G>T	chr17.hg19:g.41365867G>T	ENSP00000330774:p.Ala78Ser		A8K2X2|B7Z698	Missense_Mutation	SNP	ENST00000331615.3	hg19	CCDS11462.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.040236	0.93630	.	.	ENSG00000184988	ENST00000331615;ENST00000536052;ENST00000541594	T;T;T	0.38401	1.14;1.14;1.14	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.65481	0.2695	M	0.86028	2.79	0.54753	D	0.999982	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.70439	-0.4871	10	0.87932	D	0	-19.9634	16.644	0.85172	0.0:0.0:1.0:0.0	.	78;30;78	B7Z779;B7Z698;Q96A25	.;.;T106A_HUMAN	S	78;78;30	ENSP00000330774:A78S;ENSP00000439835:A78S;ENSP00000439844:A30S	ENSP00000330774:A78S	A	+	1	0	TMEM106A	38721393	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.837000	0.75354	2.646000	0.89796	0.655000	0.94253	GCT		0.572	TMEM106A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453470.2	NM_145041		T	41365867	G	T	41365867	3	4	788	1	0	0	0	0	1	0	0	0	16025	1203	42	4	238	4	TMEM106A	17	41365867	Missense_Mutation	SNP	G	TCGA-SX-A7SL-01A-11D-A34Z-10	13924769	41365867	39829343	64	46839											
MED13	9969	hgsc.bcm.edu	37	17	60038289	60038289	+	Missense_Mutation	SNP	A	A	T			TCGA-SX-A7SL-01A-11D-A34Z-10	TCGA-SX-A7SL-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e274845c-65ec-4db0-89f9-7d502ac2e427	e96052fd-169c-4e27-bd82-a5b6c796da53	g.chr17:60038289A>T	ENST00000397786.2	-	23	5495	c.5419T>A	c.(5419-5421)Tgc>Agc	p.C1807S		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1807					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						AGATCTGTGCAAGATGCAAGA	0.333																																																0													120	110	113					17																	60038289		1841	4094	5935	SO:0001583	missense	9969			AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"thyroid hormone receptor associated protein 1"	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.5419T>A	chr17.hg19:g.60038289A>T	ENSP00000380888:p.Cys1807Ser		B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	hg19	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.798802	0.90538	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	D	0.82711	-1.64	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.90511	0.7027	M	0.75447	2.3	0.80722	D	1	D	0.62365	0.991	D	0.78314	0.991	D	0.91619	0.5309	10	0.72032	D	0.01	-7.5787	15.3239	0.74144	1.0:0.0:0.0:0.0	.	1807	Q9UHV7	MED13_HUMAN	S	1807;1806	ENSP00000380888:C1807S	ENSP00000262436:C1806S	C	-	1	0	MED13	57393071	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.842000	0.92136	2.016000	0.59253	0.519000	0.50382	TGC		0.333	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		T	60038289	A	T	60038289	3	4	788	1	0	0	0	0	1	0	0	0	9432	130	5	5	1137	5	MED13	17	60038289	Missense_Mutation	SNP	A	TCGA-SX-A7SL-01A-11D-A34Z-10	18672422	60038289	21156921	65	46840											
PSMC5	5705	hgsc.bcm.edu	37	17	61909160	61909160	+	Missense_Mutation	SNP	C	C	T			TCGA-SX-A7SL-01A-11D-A34Z-10	TCGA-SX-A7SL-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e274845c-65ec-4db0-89f9-7d502ac2e427	e96052fd-169c-4e27-bd82-a5b6c796da53	g.chr17:61909160C>T	ENST00000310144.6	+	11	1465	c.1157C>T	c.(1156-1158)gCa>gTa	p.A386V	PSMC5_ENST00000375812.4_Missense_Mutation_p.A378V|FTSJ3_ENST00000580295.1_5'Flank|PSMC5_ENST00000580864.1_Missense_Mutation_p.A378V|PSMC5_ENST00000581882.1_Missense_Mutation_p.A378V	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5	386	May mediate interaction with PRPF9. {ECO:0000250|UniProtKB:P62196}.				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 programmed cell death (GO:0043069)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|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)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|nuclear proteasome complex (GO:0031595)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|thyrotropin-releasing hormone receptor binding (GO:0031531)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						TTTGAGATGGCAGTAGCCAAG	0.527																																																0													111	87	95					17																	61909160		2203	4300	6503	SO:0001583	missense	5705			L38810	CCDS11645.1, CCDS56043.1	17q23.3	2010-04-21			ENSG00000087191	ENSG00000087191		"Proteasome (prosome, macropain) subunits", "ATPases / AAA-type"	9552	protein-coding gene	gene with protein product		601681				9473509, 9048938	Standard	NM_002805		Approved	SUG1, p45/SUG, TBP10, p45, S8, TRIP1, SUG-1	uc002jcb.3	P62195		ENST00000310144.6:c.1157C>T	chr17.hg19:g.61909160C>T	ENSP00000310572:p.Ala386Val		A8K3Z3|A8K763|O35051|O43208|P47210|P52915|P52916	Missense_Mutation	SNP	ENST00000310144.6	hg19	CCDS11645.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.557777	0.86231	.	.	ENSG00000087191	ENST00000310144;ENST00000375812	T;T	0.80653	-1.4;-1.4	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.90256	0.6953	M	0.86864	2.845	0.80722	D	1	D;D	0.89917	0.996;1.0	P;D	0.63703	0.763;0.917	D	0.91405	0.5146	10	0.87932	D	0	.	16.9624	0.86275	0.0:1.0:0.0:0.0	.	378;386	A8K3Z3;P62195	.;PRS8_HUMAN	V	386;378	ENSP00000310572:A386V;ENSP00000364970:A378V	ENSP00000310572:A386V	A	+	2	0	PSMC5	59262892	1.000000	0.71417	0.999000	0.59377	0.962000	0.63368	5.877000	0.69675	2.873000	0.98535	0.561000	0.74099	GCA		0.527	PSMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444404.1	NM_002805		T	61909160	C	T	61909160	3	4	788	1	0	0	0	0	1	0	0	0	12695	710	25	2	1199	2	PSMC5	17	61909160	Missense_Mutation	SNP	C	TCGA-SX-A7SL-01A-11D-A34Z-10	1870871	61909160	19286050	66	46841											
TRIM65	201292	hgsc.bcm.edu	37	17	73887900	73887901	+	Frame_Shift_Del	DEL	AG	AG	-	rs372788583		TCGA-SX-A7SL-01A-11D-A34Z-10	TCGA-SX-A7SL-10A-01D-A34Z-10	AG	AG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e274845c-65ec-4db0-89f9-7d502ac2e427	e96052fd-169c-4e27-bd82-a5b6c796da53	g.chr17:73887900_73887901delAG	ENST00000269383.3	-	5	1043_1044	c.978_979delCT	c.(976-981)ctctggfs	p.W327fs		NM_001256124.1|NM_173547.3	NP_001243053.1|NP_775818.2	Q6PJ69	TRI65_HUMAN	tripartite motif containing 65	327	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12			Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTACTCTGCCAGAGTTTCCTCC	0.574																																																0										5,4259		0,5,2127						3.4	1			113	14,8240		6,2,4119	no	frameshift	TRIM65	NM_173547.2		6,7,6246	A1A1,A1R,RR		0.1696,0.1173,0.1518				19,12499				SO:0001589	frameshift_variant	201292			BC006138	CCDS11732.1	17q25.1	2013-01-09	2011-01-25		ENSG00000141569	ENSG00000141569		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	27316	protein-coding gene	gene with protein product			"tripartite motif-containing 65"			12477932	Standard	NM_173547		Approved		uc002jpx.4	Q6PJ69	OTTHUMG00000132127	ENST00000269383.3:c.978_979delCT	chr17.hg19:g.73887902_73887903delAG	ENSP00000269383:p.Trp327fs		Q4G0F0|Q6DKJ6|Q9BRP6	Frame_Shift_Del	DEL	ENST00000269383.3	hg19	CCDS11732.1																																																																																				0.574	TRIM65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255170.2	NM_173547		-	73887901	AG	-	73887900	7	5	788	1	0	1	0	1	0	0	0	0	16544	188	7	0	582	0	TRIM65	17	73887900	Frame_Shift_Del	DEL	AG	TCGA-SX-A7SL-01A-11D-A34Z-10	11978740	73887900	7307310	67	46842											
ABHD3	171586	hgsc.bcm.edu	37	18	19283591	19283591	+	Frame_Shift_Del	DEL	G	G	-			TCGA-SX-A7SL-01A-11D-A34Z-10	TCGA-SX-A7SL-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e274845c-65ec-4db0-89f9-7d502ac2e427	e96052fd-169c-4e27-bd82-a5b6c796da53	g.chr18:19283591delG	ENST00000289119.2	-	2	419	c.280delC	c.(280-282)ctgfs	p.L95fs	ABHD3_ENST00000579875.1_5'UTR|ABHD3_ENST00000578270.1_5'UTR|ABHD3_ENST00000580981.1_Frame_Shift_Del_p.L95fs	NM_138340.4	NP_612213.2	Q8WU67	ABHD3_HUMAN	abhydrolase domain containing 3	95						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(2)	10						GGTCTAAGCAGGGTCTGTCCT	0.517																																																0													97	86	89					18																	19283591		2203	4300	6503	SO:0001589	frameshift_variant	171586			AK024880	CCDS32802.1	18q11.1	2011-02-16			ENSG00000158201	ENSG00000158201		"Abhydrolase domain containing"	18718	protein-coding gene	gene with protein product		612197					Standard	NM_138340		Approved	LABH3	uc002ktl.2	Q8WU67		ENST00000289119.2:c.280delC	chr18.hg19:g.19283591delG	ENSP00000289119:p.Leu95fs		B0YIV0|B7Z5C2|O43411	Frame_Shift_Del	DEL	ENST00000289119.2	hg19	CCDS32802.1																																																																																				0.517	ABHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444757.1			-	19283591	G	-	19283591	7	5	788	1	0	1	0	1	0	0	0	0	83	991	35	0	981	0	ABHD3	18	19283591	Frame_Shift_Del	DEL	G	TCGA-SX-A7SL-01A-11D-A34Z-10		19283591	58793657	68	46843											
PPAN	56342	hgsc.bcm.edu	37	19	10218531	10218531	+	Splice_Site	SNP	G	G	C			TCGA-SX-A7SL-01A-11D-A34Z-10	TCGA-SX-A7SL-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e274845c-65ec-4db0-89f9-7d502ac2e427	e96052fd-169c-4e27-bd82-a5b6c796da53	g.chr19:10218531G>C	ENST00000253107.7	+	4	448		c.e4+1		PPAN_ENST00000556468.1_Splice_Site|PPAN-P2RY11_ENST00000393796.4_Splice_Site|PPAN_ENST00000393793.1_Splice_Site|PPAN-P2RY11_ENST00000428358.1_Splice_Site|SNORD105_ENST00000386910.1_RNA|SNORD105B_ENST00000458770.1_RNA	NM_020230.5	NP_064615.3	Q9NQ55	SSF1_HUMAN	peter pan homolog (Drosophila)						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)			GGTCAAGAAGGTGAGAGGGGT	0.597																																																0													76	90	85					19																	10218531		2203	4299	6502	SO:0001630	splice_region_variant	56342			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.342+1G>C	chr19.hg19:g.10218531G>C			C9J3F9|Q9BW97|Q9H170	Splice_Site	SNP	ENST00000253107.7	hg19	CCDS12225.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.989428	0.53934	.	.	ENSG00000243207;ENSG00000243207;ENSG00000130810;ENSG00000130810;ENSG00000130810;ENSG00000130810;ENSG00000130810;ENSG00000130810	ENST00000428358;ENST00000393796;ENST00000253107;ENST00000556468;ENST00000342696;ENST00000393793;ENST00000446223;ENST00000430370	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1466	0.89659	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PPAN;PPAN-P2RY11	10079531	1.000000	0.71417	0.984000	0.44739	0.522000	0.34438	7.352000	0.79404	2.586000	0.87340	0.561000	0.74099	.		0.597	PPAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316658.1	NM_020230	Intron	C	10218531	G	C	10218531	5	2	788	1	0	0	0	0	0	0	1	0	12290	1275	44	4	357	4	PPAN	19	10218531	Splice_Site	SNP	G	TCGA-SX-A7SL-01A-11D-A34Z-10		10218531	48910452	69	46844											
COX7A1	1346	hgsc.bcm.edu	37	19	36641914	36641914	+	Silent	SNP	G	G	A			TCGA-SX-A7SL-01A-11D-A34Z-10	TCGA-SX-A7SL-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e274845c-65ec-4db0-89f9-7d502ac2e427	e96052fd-169c-4e27-bd82-a5b6c796da53	g.chr19:36641914G>A	ENST00000292907.3	-	4	671	c.210C>T	c.(208-210)tcC>tcT	p.S70S	COX7A1_ENST00000437291.2_Silent_p.S14S|AD001527.7_ENST00000604228.1_RNA	NM_001864.2	NP_001855.1	P24310	CX7A1_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 1 (muscle)	70					generation of precursor metabolites and energy (GO:0006091)|hydrogen ion transmembrane transport (GO:1902600)	integral component of membrane (GO:0016021)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)			endometrium(2)|large_intestine(1)	3	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CCCAGCCAAGGGAGTACAAGC	0.542																																																0													135	116	122					19																	36641914		2203	4300	6503	SO:0001819	synonymous_variant	1346			BC002757	CCDS12490.1	19q13.1	2011-07-04			ENSG00000161281	ENSG00000161281	1.9.3.1	"Mitochondrial respiratory chain complex / Complex IV"	2287	protein-coding gene	gene with protein product		123995		COX7A		1327965, 2550906	Standard	NM_001864		Approved	COX7AH	uc002odm.1	P24310	OTTHUMG00000048144	ENST00000292907.3:c.210C>T	chr19.hg19:g.36641914G>A				Silent	SNP	ENST00000292907.3	hg19	CCDS12490.1	.	.	.	.	.	.	.	.	.	.	g	7.112	0.576232	0.13686	.	.	ENSG00000161281	ENST00000437291	.	.	.	4.54	3.51	0.40186	.	.	.	.	.	T	0.58395	0.2119	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54503	-0.8284	4	.	.	.	-14.8375	8.4726	0.32995	0.1061:0.0:0.8939:0.0	.	.	.	.	L	100	.	.	P	-	2	0	COX7A1	41333754	1.000000	0.71417	0.991000	0.47740	0.585000	0.36419	2.050000	0.41297	1.121000	0.41925	0.643000	0.83706	CCC		0.542	COX7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109545.2	NM_001864		A	36641914	G	A	36641914	2	1	788	1	0	0	0	0	0	0	0	1	3781	1219	43	2		2	COX7A1	19	36641914	Silent	SNP	G	TCGA-SX-A7SL-01A-11D-A34Z-10	26423383	36641914	22487069	70	46845											
FIZ1	84922	hgsc.bcm.edu	37	19	56109104	56109104	+	Missense_Mutation	SNP	G	G	T			TCGA-SX-A7SL-01A-11D-A34Z-10	TCGA-SX-A7SL-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e274845c-65ec-4db0-89f9-7d502ac2e427	e96052fd-169c-4e27-bd82-a5b6c796da53	g.chr19:56109104G>T	ENST00000221665.3	-	2	217	c.128C>A	c.(127-129)gCc>gAc	p.A43D	FIZ1_ENST00000592585.1_Missense_Mutation_p.A43D|ZNF524_ENST00000301073.3_5'Flank	NM_032836.2	NP_116225.2	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	43					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)		TGTGTGCCGGGCAAAGTGGCG	0.672																																																0													50	46	48					19																	56109104		2203	4299	6502	SO:0001583	missense	84922			AK027674	CCDS12928.1	19q13.42	2013-01-08				ENSG00000179943		"Zinc fingers, C2H2-type"	25917	protein-coding gene	gene with protein product		609133				12566383	Standard	NM_032836		Approved	FLJ14768, ZNF798	uc002qli.4	Q96SL8		ENST00000221665.3:c.128C>A	chr19.hg19:g.56109104G>T	ENSP00000221665:p.Ala43Asp		A2RU72|Q6ZMJ7	Missense_Mutation	SNP	ENST00000221665.3	hg19	CCDS12928.1	.	.	.	.	.	.	.	.	.	.	G	11.91	1.779874	0.31502	.	.	ENSG00000179943	ENST00000221665	T	0.18810	2.19	3.57	3.57	0.40892	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17238	0.0414	N	0.21282	0.65	0.09310	N	1	B	0.25850	0.136	B	0.33196	0.159	T	0.20207	-1.0282	9	0.72032	D	0.01	-17.8725	9.9577	0.41678	0.0:0.0:0.7965:0.2035	.	43	Q96SL8	FIZ1_HUMAN	D	43	ENSP00000221665:A43D	ENSP00000221665:A43D	A	-	2	0	FIZ1	60800916	0.000000	0.05858	0.988000	0.46212	0.756000	0.42949	0.243000	0.18106	2.017000	0.59298	0.462000	0.41574	GCC		0.672	FIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453350.1	NM_032836		T	56109104	G	T	56109104	3	4	788	1	0	0	0	0	1	0	0	0	5902	1203	42	4	1370	4	FIZ1	19	56109104	Missense_Mutation	SNP	G	TCGA-SX-A7SL-01A-11D-A34Z-10	19467190	56109104	3019879	71	46846											
SNRPB2	6629	hgsc.bcm.edu	37	20	16719517	16719517	+	Silent	SNP	T	T	C			TCGA-SX-A7SL-01A-11D-A34Z-10	TCGA-SX-A7SL-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e274845c-65ec-4db0-89f9-7d502ac2e427	e96052fd-169c-4e27-bd82-a5b6c796da53	g.chr20:16719517T>C	ENST00000246071.6	+	5	615	c.399T>C	c.(397-399)aaT>aaC	p.N133N	SNRPB2_ENST00000377943.5_Silent_p.N133N	NM_003092.4	NP_003083.1	P08579	RU2B_HUMAN	small nuclear ribonucleoprotein polypeptide B	133					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2 snRNP (GO:0005686)	nucleotide binding (GO:0000166)|snRNA binding (GO:0017069)			large_intestine(2)|lung(2)|urinary_tract(1)	5						ATTCAGCTAATACCCAAGGAA	0.323																																																0													65	66	66					20																	16719517		2203	4298	6501	SO:0001819	synonymous_variant	6629				CCDS13123.1	20p12.1	2013-02-12	2010-07-07		ENSG00000125870	ENSG00000125870		"RNA binding motif (RRM) containing"	11155	protein-coding gene	gene with protein product		603520	"small nuclear ribonucleoprotein polypeptide B2", "small nuclear ribonucleoprotein polypeptide B''"			2951739	Standard	NM_198220		Approved	Msl1	uc002wpi.2	P08579	OTTHUMG00000031933	ENST00000246071.6:c.399T>C	chr20.hg19:g.16719517T>C			B2R7J3|D3DW21|Q9UJD4	Silent	SNP	ENST00000246071.6	hg19	CCDS13123.1																																																																																				0.323	SNRPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078110.1	NM_003092		C	16719517	T	C	16719517	2	2	788	1	0	0	0	0	0	0	0	1	14868	1403	49	3		3	SNRPB2	20	16719517	Silent	SNP	T	TCGA-SX-A7SL-01A-11D-A34Z-10		16719517	46306003	72	46847											
SYS1	90196	hgsc.bcm.edu	37	20	43995569	43995569	+	Silent	SNP	T	T	A	rs564852027		TCGA-SX-A7SL-01A-11D-A34Z-10	TCGA-SX-A7SL-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e274845c-65ec-4db0-89f9-7d502ac2e427	e96052fd-169c-4e27-bd82-a5b6c796da53	g.chr20:43995569T>A	ENST00000243918.5	+	4	576	c.285T>A	c.(283-285)acT>acA	p.T95T	SYS1_ENST00000414310.1_Silent_p.T74T|SYS1-DBNDD2_ENST00000452133.1_Intron|SYS1_ENST00000372727.1_Silent_p.T95T|SYS1-DBNDD2_ENST00000475242.1_Intron|SYS1_ENST00000426004.1_Intron|SYS1_ENST00000479779.1_3'UTR	NM_033542.3	NP_291020.1	Q8N2H4	SYS1_HUMAN	Sys1 golgi trafficking protein	95					protein transport (GO:0015031)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(2)|large_intestine(2)|prostate(1)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				TGGATTTCACTGTCACTGTCC	0.587																																																0													161	137	145					20																	43995569		2203	4300	6503	SO:0001819	synonymous_variant	90196			AL021578	CCDS13351.1, CCDS56192.1	20q13.12	2014-05-07	2014-05-07	2006-11-06	ENSG00000204070	ENSG00000204070			16162	protein-coding gene	gene with protein product		612979	"chromosome 20 open reading frame 169", "SYS1 Golgi-localized integral membrane protein homolog (S. cerevisiae)"	C20orf169		15077113	Standard	NM_001197129		Approved	dJ453C12.4	uc002xnv.3	Q8N2H4	OTTHUMG00000032579	ENST00000243918.5:c.285T>A	chr20.hg19:g.43995569T>A			C9JFB3|E1P620|Q5QPU7|Q96SD8|Q9BQZ2|Q9BQZ4|Q9H1F7	Silent	SNP	ENST00000243918.5	hg19	CCDS13351.1																																																																																				0.587	SYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079453.2	NM_033542		A	43995569	T	A	43995569	2	1	788	1	0	0	0	0	0	0	0	1	15469	1567	55	5		5	SYS1	20	43995569	Silent	SNP	T	TCGA-SX-A7SL-01A-11D-A34Z-10	27276052	43995569	19029951	73	46848											
CDH22	64405	hgsc.bcm.edu	37	20	44806794	44806794	+	Missense_Mutation	SNP	C	C	A			TCGA-SX-A7SL-01A-11D-A34Z-10	TCGA-SX-A7SL-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e274845c-65ec-4db0-89f9-7d502ac2e427	e96052fd-169c-4e27-bd82-a5b6c796da53	g.chr20:44806794C>A	ENST00000372262.3	-	10	2106	c.1706G>T	c.(1705-1707)cGg>cTg	p.R569L	CDH22_ENST00000537909.1_Missense_Mutation_p.R569L	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	569	Cadherin 5. {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)				CTGCTCCTGCCGGTTGAAGCC	0.642																																																0													75	57	63					20																	44806794		2203	4300	6503	SO:0001583	missense	64405			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.1706G>T	chr20.hg19:g.44806794C>A	ENSP00000361336:p.Arg569Leu		B9EGK7|O43205	Missense_Mutation	SNP	ENST00000372262.3	hg19	CCDS13395.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.711454	0.89112	.	.	ENSG00000149654	ENST00000372262;ENST00000537909	T;T	0.59638	0.25;0.25	4.36	4.36	0.52297	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.66713	0.2817	M	0.76328	2.33	0.58432	D	0.999997	D	0.54964	0.969	P	0.50708	0.648	T	0.71094	-0.4692	10	0.46703	T	0.11	.	15.618	0.76784	0.0:1.0:0.0:0.0	.	569	Q9UJ99	CAD22_HUMAN	L	569	ENSP00000361336:R569L;ENSP00000437790:R569L	ENSP00000361336:R569L	R	-	2	0	CDH22	44240201	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.586000	0.60984	2.263000	0.75096	0.650000	0.86243	CGG		0.642	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	NM_021248		A	44806794	C	A	44806794	3	1	788	1	0	0	0	0	1	0	0	0	3109	652	23	4	788	4	CDH22	20	44806794	Missense_Mutation	SNP	C	TCGA-SX-A7SL-01A-11D-A34Z-10	811225	44806794	18218726	74	46849											
MYT1	4661	hgsc.bcm.edu	37	20	62843457	62843457	+	Missense_Mutation	SNP	G	G	A			TCGA-SX-A7SL-01A-11D-A34Z-10	TCGA-SX-A7SL-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e274845c-65ec-4db0-89f9-7d502ac2e427	e96052fd-169c-4e27-bd82-a5b6c796da53	g.chr20:62843457G>A	ENST00000328439.1	+	9	1847	c.1483G>A	c.(1483-1485)Ggt>Agt	p.G495S	MYT1_ENST00000360149.4_Missense_Mutation_p.G197S|MYT1_ENST00000536311.1_Missense_Mutation_p.G495S	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0	Interaction with CDC2-CCNB1.|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)					CACAGGCCAGGGTCACGTGAA	0.637																																					GBM(59;481 1041 20555 21139 33705)											0													136	126	129					20																	62843457		2203	4300	6503	SO:0001583	missense	4661			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.1483G>A	chr20.hg19:g.62843457G>A	ENSP00000327465:p.Gly495Ser		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000328439.1	hg19	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	G	19.41	3.822666	0.71028	.	.	ENSG00000196132	ENST00000360149;ENST00000328439;ENST00000536311	T;T;T	0.72505	-0.66;-0.61;1.74	4.46	4.46	0.54185	.	0.000000	0.85682	D	0.000000	D	0.87442	0.6178	M	0.91818	3.245	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	D	0.90880	0.4753	10	0.87932	D	0	-27.2192	17.4965	0.87719	0.0:0.0:1.0:0.0	.	495;495;197	F5H7M8;Q01538;Q6P6D5	.;MYT1_HUMAN;.	S	197;495;495	ENSP00000353269:G197S;ENSP00000327465:G495S;ENSP00000442412:G495S	ENSP00000327465:G495S	G	+	1	0	MYT1	62313901	1.000000	0.71417	0.997000	0.53966	0.689000	0.40095	9.725000	0.98778	2.187000	0.69744	0.557000	0.71058	GGT		0.637	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		A	62843457	G	A	62843457	3	1	788	1	0	0	0	0	1	0	0	0	10108	1232	43	2	1509	2	MYT1	20	62843457	Missense_Mutation	SNP	G	TCGA-SX-A7SL-01A-11D-A34Z-10	18036663	62843457	182063	75	46850											
TIAM1	7074	hgsc.bcm.edu	37	21	32638851	32638851	+	Silent	SNP	G	G	A			TCGA-SX-A7SL-01A-11D-A34Z-10	TCGA-SX-A7SL-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e274845c-65ec-4db0-89f9-7d502ac2e427	e96052fd-169c-4e27-bd82-a5b6c796da53	g.chr21:32638851G>A	ENST00000286827.3	-	5	909	c.438C>T	c.(436-438)ggC>ggT	p.G146G	TIAM1_ENST00000541036.1_Silent_p.G146G|TIAM1_ENST00000469412.1_Intron	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	146					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						GCTGCCTCCTGCCTCCCTCAG	0.547																																																0													106	94	98					21																	32638851		2203	4300	6503	SO:0001819	synonymous_variant	7074				CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.438C>T	chr21.hg19:g.32638851G>A			B7ZLR6|F5GZ53|Q17RT7	Silent	SNP	ENST00000286827.3	hg19	CCDS13609.1																																																																																				0.547	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		A	32638851	G	A	32638851	2	1	788	1	0	0	0	0	0	0	0	1	15895	1306	46	2		2	TIAM1	21	32638851	Silent	SNP	G	TCGA-SX-A7SL-01A-11D-A34Z-10		32638851	15491044	76	46851											
RANBP1	5902	hgsc.bcm.edu	37	22	20109843	20109843	+	Missense_Mutation	SNP	G	G	A			TCGA-SX-A7SL-01A-11D-A34Z-10	TCGA-SX-A7SL-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e274845c-65ec-4db0-89f9-7d502ac2e427	e96052fd-169c-4e27-bd82-a5b6c796da53	g.chr22:20109843G>A	ENST00000331821.3	+	3	311	c.209G>A	c.(208-210)cGa>cAa	p.R70Q	RANBP1_ENST00000430524.1_5'UTR|RANBP1_ENST00000402752.1_Missense_Mutation_p.R70Q	NM_002882.2	NP_002873.1	P43487	RANG_HUMAN	RAN binding protein 1	70	RanBD1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				intracellular transport (GO:0046907)|positive regulation of mitotic centrosome separation (GO:0046604)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)|spindle organization (GO:0007051)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|Ran GTPase binding (GO:0008536)			breast(1)|large_intestine(1)|lung(1)|ovary(1)	4	Colorectal(54;0.0993)					TGGAAGGAGCGAGGCACTGGT	0.562																																																0													75	67	70					22																	20109843		2203	4300	6503	SO:0001583	missense	5902			D38076	CCDS13775.1, CCDS63408.1, CCDS74823.1	22q11.21	2008-06-16			ENSG00000099901	ENSG00000099901			9847	protein-coding gene	gene with protein product		601180				7616957, 10330396	Standard	NM_001278639		Approved	HTF9A	uc002zro.1	P43487	OTTHUMG00000150490	ENST00000331821.3:c.209G>A	chr22.hg19:g.20109843G>A	ENSP00000327583:p.Arg70Gln		Q53EY3	Missense_Mutation	SNP	ENST00000331821.3	hg19	CCDS13775.1	.	.	.	.	.	.	.	.	.	.	G	36	5.878801	0.97055	.	.	ENSG00000099901	ENST00000432879;ENST00000402752;ENST00000447917;ENST00000331821;ENST00000411892;ENST00000416427;ENST00000421656;ENST00000423859;ENST00000418705	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	5.53	5.53	0.82687	Pleckstrin homology-type (1);Ran binding protein 1 (3);	0.000000	0.85682	D	0.000000	D	0.85133	0.5627	M	0.93808	3.46	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.80764	0.994;0.952;0.986	D	0.88552	0.3117	10	0.72032	D	0.01	-3.2042	19.4537	0.94878	0.0:0.0:1.0:0.0	.	70;70;70	B4DE76;Q53EY3;P43487	.;.;RANG_HUMAN	Q	147;70;70;70;70;20;20;20;20	ENSP00000404724:R147Q;ENSP00000384925:R70Q;ENSP00000327583:R70Q;ENSP00000395472:R70Q;ENSP00000404126:R20Q;ENSP00000400940:R20Q;ENSP00000404298:R20Q;ENSP00000413502:R20Q	ENSP00000327583:R70Q	R	+	2	0	RANBP1	18489843	1.000000	0.71417	0.999000	0.59377	0.859000	0.49053	9.618000	0.98365	2.606000	0.88127	0.563000	0.77884	CGA		0.562	RANBP1-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343733.1	NM_002882		A	20109843	G	A	20109843	3	1	788	1	0	0	0	0	1	0	0	0	13031	1058	37	1	219	1	RANBP1	22	20109843	Missense_Mutation	SNP	G	TCGA-SX-A7SL-01A-11D-A34Z-10		20109843	31194723	77	46852											
NEFH	4744	hgsc.bcm.edu	37	22	29885585	29885586	+	In_Frame_Ins	INS	-	-	AAGTCCCCTGAGAAGGCC	rs200984527|rs267607533		TCGA-SX-A7SL-01A-11D-A34Z-10	TCGA-SX-A7SL-10A-01D-A34Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e274845c-65ec-4db0-89f9-7d502ac2e427	e96052fd-169c-4e27-bd82-a5b6c796da53	g.chr22:29885585_29885586insAAGTCCCCTGAGAAGGCC	ENST00000310624.6	+	4	1989_1990	c.1956_1957insAAGTCCCCTGAGAAGGCC	c.(1957-1959)aag>AAGTCCCCTGAGAAGGCCaag	p.653_653K>KSPEKAK		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	659	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						CTGAGAAGGCCAAGTCCCCAGA	0.564																																																0																																										SO:0001652	inframe_insertion	4744				CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"Intermediate filaments type IV"	7737	protein-coding gene	gene with protein product		162230	"neurofilament, heavy polypeptide 200kDa"				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.1939_1956dupAAGTCCCCTGAGAAGGCC	chr22.hg19:g.29885585_29885586insAAGTCCCCTGAGAAGGCC	ENSP00000311997:p.SerProGluLysAlaLys653dup		B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	In_Frame_Ins	INS	ENST00000310624.6	hg19	CCDS13858.1																																																																																				0.564	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		AAGTCCCCTGAGAAGGCC	29885586	-	AAGTCCCCTGAGAAGGCC	29885585	7	5	788	1	0	1	1	0	0	0	0	0	10316	581	21	0	1970	0	NEFH	22	29885585	In_Frame_Ins	INS	-	TCGA-SX-A7SL-01A-11D-A34Z-10	9775742	29885585	21418981	78	46853											
NF2	4771	hgsc.bcm.edu	37	22	30050649	30050649	+	Frame_Shift_Del	DEL	G	G	-			TCGA-SX-A7SL-01A-11D-A34Z-10	TCGA-SX-A7SL-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e274845c-65ec-4db0-89f9-7d502ac2e427	e96052fd-169c-4e27-bd82-a5b6c796da53	g.chr22:30050649delG	ENST00000338641.4	+	5	892	c.451delG	c.(451-453)ggtfs	p.G151fs	NF2_ENST00000361452.4_Frame_Shift_Del_p.G110fs|NF2_ENST00000403435.1_Frame_Shift_Del_p.G151fs|NF2_ENST00000353887.4_Frame_Shift_Del_p.G68fs|NF2_ENST00000347330.5_Intron|NF2_ENST00000403999.3_Frame_Shift_Del_p.G151fs|NF2_ENST00000334961.7_Frame_Shift_Del_p.G68fs|NF2_ENST00000413209.2_Intron|NF2_ENST00000361166.4_Frame_Shift_Del_p.G151fs|NF2_ENST00000397789.3_Frame_Shift_Del_p.G151fs|NF2_ENST00000361676.4_Frame_Shift_Del_p.G109fs	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	151	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.?(4)|p.Y150fs*46(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						TTTCCAGTATGGTGACTACGA	0.463			"D, Mis, N, F, S, O"		"meningioma, acoustic neuroma, renal "	"meningioma, acoustic neuroma"			Neurofibromatosis, type 2																													yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	neurofibromatosis type 2 gene		O	5	Unknown(4)|Deletion - Frameshift(1)	meninges(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)											163	165	164					22																	30050649		2203	4300	6503	SO:0001589	frameshift_variant	4771	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"A-kinase anchor proteins"	7773	protein-coding gene	gene with protein product	"moesin-ezrin-radixin like", "schwannomin"	607379	"neurofibromin 2 (bilateral acoustic neuroma)"			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.451delG	chr22.hg19:g.30050649delG	ENSP00000344666:p.Gly151fs		O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Frame_Shift_Del	DEL	ENST00000338641.4	hg19	CCDS13861.1																																																																																				0.463	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075615.3	NM_000268		-	30050649	G	-	30050649	7	5	788	1	0	1	0	1	0	0	0	0	10359	1348	47	0	469	0	NF2	22	30050649	Frame_Shift_Del	DEL	G	TCGA-SX-A7SL-01A-11D-A34Z-10	165064	30050649	21253917	79	46854											
SGSM3	57591	hgsc.bcm.edu	37	22	40803843	40803843	+	IGR	SNP	G	G	A			TCGA-SX-A7SL-01A-11D-A34Z-10	TCGA-SX-A7SL-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e274845c-65ec-4db0-89f9-7d502ac2e427	e96052fd-169c-4e27-bd82-a5b6c796da53	g.chr22:40803843G>A	ENST00000355630.3	-	0	4496				SGSM3_ENST00000248929.9_Silent_p.L525L|SGSM3_ENST00000454798.2_Silent_p.L458L	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						TCAACGGCCTGCGAGGTGGGG	0.627			T	RBM15	acute megakaryocytic leukemia																																		Dom	yes		22	22q13	57591	megakaryoblastic leukemia (translocation) 1		L	0													50	53	52					22																	40803843		2203	4300	6503	SO:0001628	intergenic_variant	27352			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		chr22.hg19:g.40803843G>A			Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Silent	SNP	ENST00000355630.3	hg19	CCDS14003.1																																																																																				0.627	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		A	40803843	G	A	40803843	1	1	788	0	1	0	0	0	0	0	0	0	14230	1306	46	2		2	SGSM3	22	40803843	IGR	SNP	G	TCGA-SX-A7SL-01A-11D-A34Z-10	10753194	40803843	10500723	80	46855											
GPR173	54328	hgsc.bcm.edu	37	X	53106377	53106377	+	Missense_Mutation	SNP	A	A	C			TCGA-SX-A7SL-01A-11D-A34Z-10	TCGA-SX-A7SL-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e274845c-65ec-4db0-89f9-7d502ac2e427	e96052fd-169c-4e27-bd82-a5b6c796da53	g.chrX:53106377A>C	ENST00000332582.4	+	2	1065	c.574A>C	c.(574-576)Atg>Ctg	p.M192L		NM_018969.5	NP_061842.1	Q9NS66	GP173_HUMAN	G protein-coupled receptor 173	192					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						CTTCATGCTTATGTTGGCTGT	0.537																																																0													39	37	38					X																	53106377		2200	4299	6499	SO:0001583	missense	54328			AB040801	CCDS14349.1	Xp11	2012-08-21	2006-02-15		ENSG00000184194	ENSG00000184194		"GPCR / Class A : Orphans"	18186	protein-coding gene	gene with protein product		300253	"G-protein coupled receptor 173", "G protein coupled receptor 173"			10833454	Standard	NM_018969		Approved	SREB3	uc004dru.3	Q9NS66	OTTHUMG00000021596	ENST00000332582.4:c.574A>C	chrX.hg19:g.53106377A>C	ENSP00000331600:p.Met192Leu		B1B0A5	Missense_Mutation	SNP	ENST00000332582.4	hg19	CCDS14349.1	.	.	.	.	.	.	.	.	.	.	A	3.370	-0.128697	0.06753	.	.	ENSG00000184194	ENST00000332582	T	0.70516	-0.49	4.85	4.85	0.62838	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.53433	0.1796	L	0.28400	0.85	0.58432	D	0.999999	B	0.11235	0.004	B	0.18871	0.023	T	0.47182	-0.9137	10	0.02654	T	1	-11.4851	11.4995	0.50428	1.0:0.0:0.0:0.0	.	192	Q9NS66	GP173_HUMAN	L	192	ENSP00000331600:M192L	ENSP00000331600:M192L	M	+	1	0	GPR173	53123102	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.287000	0.72671	1.614000	0.50241	0.430000	0.28490	ATG		0.537	GPR173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056717.2	NM_018969		C	53106377	A	C	53106377	3	2	788	1	0	0	0	0	1	0	0	0	6673	449	16	5	576	5	GPR173	23	53106377	Missense_Mutation	SNP	A	TCGA-SX-A7SL-01A-11D-A34Z-10		53106377	102164183	81	46856											
PAK3	5063	hgsc.bcm.edu	37	X	110385396	110385396	+	Missense_Mutation	SNP	G	G	A			TCGA-SX-A7SL-01A-11D-A34Z-10	TCGA-SX-A7SL-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e274845c-65ec-4db0-89f9-7d502ac2e427	e96052fd-169c-4e27-bd82-a5b6c796da53	g.chrX:110385396G>A	ENST00000372010.1	+	6	690	c.248G>A	c.(247-249)gGg>gAg	p.G83E	PAK3_ENST00000425146.1_Missense_Mutation_p.G83E|PAK3_ENST00000519681.1_Missense_Mutation_p.G83E|PAK3_ENST00000372007.5_Missense_Mutation_p.G83E|PAK3_ENST00000262836.4_Missense_Mutation_p.G83E|PAK3_ENST00000518291.1_Missense_Mutation_p.G83E|PAK3_ENST00000446737.1_Missense_Mutation_p.G83E|PAK3_ENST00000417227.1_Missense_Mutation_p.G83E|PAK3_ENST00000360648.4_Missense_Mutation_p.G83E			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	83	Autoregulatory region. {ECO:0000250}.|CRIB. {ECO:0000255|PROSITE- ProRule:PRU00057}.|GTPase-binding. {ECO:0000250}.				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						ATTCATGTGGGGTTTGATGCA	0.393										TSP Lung(19;0.15)																																						0													195	193	194					X																	110385396		2203	4300	6503	SO:0001583	missense	5063			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.248G>A	chrX.hg19:g.110385396G>A	ENSP00000361080:p.Gly83Glu		A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	Missense_Mutation	SNP	ENST00000372010.1	hg19	CCDS48153.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.502816	0.85176	.	.	ENSG00000077264	ENST00000446737;ENST00000425146;ENST00000372010;ENST00000519681;ENST00000372007;ENST00000518291;ENST00000429193;ENST00000360648;ENST00000417227;ENST00000262836	D;D;D;D;D;D;D;D;D;D	0.94280	-3.39;-3.39;-3.39;-3.39;-3.39;-3.39;-3.39;-3.39;-3.39;-3.39	5.96	5.09	0.68999	PAK-box/P21-Rho-binding (3);	0.110129	0.64402	D	0.000007	D	0.97123	0.9060	M	0.88031	2.925	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;D;D;D	0.85130	0.996;0.997;0.994;0.987	D	0.97620	1.0135	10	0.87932	D	0	.	15.638	0.76970	0.0:0.0:0.8618:0.1382	.	83;83;83;83	O75914-4;O75914-3;O75914;O75914-2	.;.;PAK3_HUMAN;.	E	83	ENSP00000410853:G83E;ENSP00000401982:G83E;ENSP00000361080:G83E;ENSP00000429113:G83E;ENSP00000361077:G83E;ENSP00000428921:G83E;ENSP00000405642:G83E;ENSP00000353864:G83E;ENSP00000389172:G83E;ENSP00000262836:G83E	ENSP00000262836:G83E	G	+	2	0	PAK3	110272052	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	1.251000	0.43983	0.600000	0.82982	GGG		0.393	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057918.1	NM_002578		A	110385396	G	A	110385396	3	1	788	1	0	0	0	0	1	0	0	0	11404	1232	43	2	254	2	PAK3	23	110385396	Missense_Mutation	SNP	G	TCGA-SX-A7SL-01A-11D-A34Z-10	57279019	110385396	44885164	82	46857											
CELA2A	63036	hgsc.bcm.edu	37	1	15789342	15789342	+	Missense_Mutation	SNP	C	C	A			TCGA-SX-A7SM-01A-11D-A34Z-10	TCGA-SX-A7SM-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6a336f0-67fb-4b2b-b9fd-c5a0fb5d699e	bab99f69-b881-4371-88d4-ffdd35a761fd	g.chr1:15789342C>A	ENST00000359621.4	+	4	367	c.342C>A	c.(340-342)aaC>aaA	p.N114K		NM_033440.2	NP_254275.1	P08217	CEL2A_HUMAN	chymotrypsin-like elastase family, member 2A	114	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)|keratohyalin granule (GO:0036457)	serine hydrolase activity (GO:0017171)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						GGAACTCCAACCAAATCTCCA	0.582																																																0													121	125	124					1																	15789342		2203	4300	6503	SO:0001583	missense	63036				CCDS157.1	1p36.21	2009-07-09			ENSG00000142615	ENSG00000142615	3.4.21.71		24609	protein-coding gene	gene with protein product	"elastase 2A"	609443				3646943, 2834346	Standard	NM_033440		Approved	ELA2A	uc001awk.3	P08217	OTTHUMG00000002258	ENST00000359621.4:c.342C>A	chr1.hg19:g.15789342C>A	ENSP00000352639:p.Asn114Lys		B2R5I4|Q14243	Missense_Mutation	SNP	ENST00000359621.4	hg19	CCDS157.1	.	.	.	.	.	.	.	.	.	.	C	6.323	0.427644	0.11987	.	.	ENSG00000142615	ENST00000359621	D	0.88277	-2.36	4.12	3.16	0.36331	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.565730	0.03988	N	0.294417	T	0.75133	0.3808	N	0.02539	-0.55	0.09310	N	1	B	0.18741	0.03	B	0.22386	0.039	T	0.64330	-0.6433	10	0.13470	T	0.59	.	8.2539	0.31743	0.1825:0.653:0.1645:0.0	.	114	P08217	CEL2A_HUMAN	K	114	ENSP00000352639:N114K	ENSP00000352639:N114K	N	+	3	2	CELA2A	15661929	0.000000	0.05858	0.003000	0.11579	0.019000	0.09904	0.083000	0.14871	0.666000	0.31087	0.281000	0.19383	AAC		0.582	CELA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006445.1	NM_033440		A	15789342	C	A	15789342	3	1	789	1	0	0	0	0	1	0	0	0	3213	506	18	4	356	4	CELA2A	1	15789342	Missense_Mutation	SNP	C	TCGA-SX-A7SM-01A-11D-A34Z-10		15789342	233461279	1	46858											
MAN1C1	57134	hgsc.bcm.edu	37	1	26109142	26109142	+	Missense_Mutation	SNP	C	C	G			TCGA-SX-A7SM-01A-11D-A34Z-10	TCGA-SX-A7SM-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6a336f0-67fb-4b2b-b9fd-c5a0fb5d699e	bab99f69-b881-4371-88d4-ffdd35a761fd	g.chr1:26109142C>G	ENST00000374332.4	+	11	2047	c.1717C>G	c.(1717-1719)Ccc>Gcc	p.P573A	MAN1C1_ENST00000263979.3_Missense_Mutation_p.P393A|MAN1C1_ENST00000374329.1_Missense_Mutation_p.P344A	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	573					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)		CAGTAGCACCCCCAACCACGA	0.542																																																0													157	142	147					1																	26109142		2203	4300	6503	SO:0001583	missense	57134			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.1717C>G	chr1.hg19:g.26109142C>G	ENSP00000363452:p.Pro573Ala		A6NNE2|B2RNP2|Q9Y545	Missense_Mutation	SNP	ENST00000374332.4	hg19	CCDS265.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.006504	0.35415	.	.	ENSG00000117643	ENST00000374332;ENST00000263979;ENST00000374329	T;T;T	0.72051	-0.62;-0.62;-0.62	5.0	5.0	0.66597	.	0.205916	0.44097	D	0.000492	T	0.73210	0.3558	M	0.65677	2.01	0.47511	D	0.999445	P	0.36354	0.549	B	0.40444	0.329	T	0.73357	-0.4008	10	0.36615	T	0.2	.	18.2971	0.90150	0.0:1.0:0.0:0.0	.	573	Q9NR34	MA1C1_HUMAN	A	573;393;344	ENSP00000363452:P573A;ENSP00000263979:P393A;ENSP00000363449:P344A	ENSP00000263979:P393A	P	+	1	0	MAN1C1	25981729	0.997000	0.39634	0.930000	0.37139	0.679000	0.39708	3.736000	0.55052	2.319000	0.78375	0.561000	0.74099	CCC		0.542	MAN1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012828.3	NM_020379		G	26109142	C	G	26109142	3	3	789	1	0	0	0	0	1	0	0	0	9215	623	22	4	1759	4	MAN1C1	1	26109142	Missense_Mutation	SNP	C	TCGA-SX-A7SM-01A-11D-A34Z-10	10319800	26109142	223141479	2	46859											
AIM1L	55057	hgsc.bcm.edu	37	1	26664849	26664849	+	Frame_Shift_Del	DEL	A	A	-			TCGA-SX-A7SM-01A-11D-A34Z-10	TCGA-SX-A7SM-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6a336f0-67fb-4b2b-b9fd-c5a0fb5d699e	bab99f69-b881-4371-88d4-ffdd35a761fd	g.chr1:26664849delA	ENST00000308182.5	-	6	758	c.329delT	c.(328-330)atgfs	p.M110fs	AIM1L_ENST00000522993.1_5'UTR|AIM1L_ENST00000527815.1_Frame_Shift_Del_p.M281fs			Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	110	Beta/gamma crystallin 'Greek key' 2. {ECO:0000255|PROSITE-ProRule:PRU00028}.						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)		TACCAATCTCATGGGCTTCAG	0.607																																																0													70	69	70					1																	26664849		2203	4300	6503	SO:0001589	frameshift_variant	55057					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.329delT	chr1.hg19:g.26664849delA	ENSP00000310435:p.Met110fs		B2RNG3|Q5T137|Q5T150	Frame_Shift_Del	DEL	ENST00000308182.5	hg19																																																																																					0.607	AIM1L-201	KNOWN	basic	protein_coding	protein_coding		NM_001039775.2		-	26664849	A	-	26664849	7	5	789	1	0	1	0	1	0	0	0	0	431	217	8	0	1577	0	AIM1L	1	26664849	Frame_Shift_Del	DEL	A	TCGA-SX-A7SM-01A-11D-A34Z-10	555707	26664849	222585772	3	46860											
PPP1R8	5511	hgsc.bcm.edu	37	1	28157385	28157385	+	Silent	SNP	G	G	C			TCGA-SX-A7SM-01A-11D-A34Z-10	TCGA-SX-A7SM-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6a336f0-67fb-4b2b-b9fd-c5a0fb5d699e	bab99f69-b881-4371-88d4-ffdd35a761fd	g.chr1:28157385G>C	ENST00000311772.5	+	1	97	c.39G>C	c.(37-39)ctG>ctC	p.L13L	PPP1R8_ENST00000373931.4_5'UTR|PPP1R8_ENST00000236412.7_5'UTR	NM_014110.4	NP_054829.2	Q12972	PP1R8_HUMAN	protein phosphatase 1, regulatory subunit 8	13	Interaction with CDC5L, SF3B1 and MELK.				cell proliferation (GO:0008283)|mRNA processing (GO:0006397)|negative regulation of catalytic activity (GO:0043086)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|protein phosphatase type 1 regulator activity (GO:0008599)|protein serine/threonine phosphatase inhibitor activity (GO:0004865)|ribonuclease E activity (GO:0008995)|RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(2)|lung(2)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.76e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00248)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)		GCCTCCCGCTGTTCGACTGCC	0.652																																																0													6	6	6					1																	28157385		2096	4160	6256	SO:0001819	synonymous_variant	5511			AF061959	CCDS311.1, CCDS312.1, CCDS313.1	1p35.3	2012-04-17	2011-10-04		ENSG00000117751	ENSG00000117751		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9296	protein-coding gene	gene with protein product	"RNase E", "nuclear subunit of PP-1", "nuclear inhibitor of protein phosphatase-1", "activator of RNA decay", "protein phosphatase 1 regulatory subunit 8"	602636	"protein phosphatase 1, regulatory (inhibitor) subunit 8"			7524097, 8473324	Standard	NM_014110		Approved	ard-1, NIPP-1, PRO2047, ARD1, NIPP1	uc001bov.2	Q12972	OTTHUMG00000003734	ENST00000311772.5:c.39G>C	chr1.hg19:g.28157385G>C			Q5TEJ2|Q5TEJ4|Q5TIF2|Q6PKF6|Q9UBH1|Q9UBZ0	Silent	SNP	ENST00000311772.5	hg19	CCDS311.1																																																																																				0.652	PPP1R8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010528.1	NM_014110		C	28157385	G	C	28157385	2	2	789	1	0	0	0	0	0	0	0	1	12382	1364	48	4		4	PPP1R8	1	28157385	Silent	SNP	G	TCGA-SX-A7SM-01A-11D-A34Z-10	1492536	28157385	221093236	4	46861											
GNL2	29889	hgsc.bcm.edu	37	1	38039944	38039951	+	Splice_Site	DEL	CTGGGGGG	CTGGGGGG	-			TCGA-SX-A7SM-01A-11D-A34Z-10	TCGA-SX-A7SM-10A-01D-A34Z-10	CTGGGGGG	CTGGGGGG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6a336f0-67fb-4b2b-b9fd-c5a0fb5d699e	bab99f69-b881-4371-88d4-ffdd35a761fd	g.chr1:38039944_38039951delCTGGGGGG	ENST00000373062.3	-	12	1507_1514	c.1409_1416delCCCCCCAG	c.(1408-1416)gccccccag>g	p.APQ470fs		NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	470					GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				CTGCTCTTACCTGGGGGGCCACAAGTGG	0.553																																																0																																										SO:0001630	splice_region_variant	29889			L05425	CCDS421.1	1p34	2008-02-05			ENSG00000134697	ENSG00000134697			29925	protein-coding gene	gene with protein product		609365				8822211	Standard	NM_013285		Approved	Ngp-1, HUMAUANTIG	uc001cbk.3	Q13823	OTTHUMG00000004322	ENST00000373062.3:c.1416+1CCCCCCAG>-	chr1.hg19:g.38039944_38039951delCTGGGGGG			Q9BWN7	Frame_Shift_Del	DEL	ENST00000373062.3	hg19	CCDS421.1																																																																																				0.553	GNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012478.1	NM_013285	Frame_Shift_Del	-	38039951	CTGGGGGG	-	38039944	8	5	789	1	0	1	0	1	0	0	1	0	6538	695	24	0	799	0	GNL2	1	38039944	Splice_Site	DEL	CTGGGGGG	TCGA-SX-A7SM-01A-11D-A34Z-10	9882559	38039944	211210677	5	46862											
C1orf190	541468	hgsc.bcm.edu	37	1	46685818	46685818	+	Missense_Mutation	SNP	G	G	A			TCGA-SX-A7SM-01A-11D-A34Z-10	TCGA-SX-A7SM-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6a336f0-67fb-4b2b-b9fd-c5a0fb5d699e	bab99f69-b881-4371-88d4-ffdd35a761fd	g.chr1:46685818G>A	ENST00000371980.3	+	2	739	c.646G>A	c.(646-648)Gat>Aat	p.D216N	POMGNT1_ENST00000371992.1_5'UTR|POMGNT1_ENST00000396420.3_5'UTR	NM_001013615.2	NP_001013633.1	Q96LR2	LURA1_HUMAN	leucine rich adaptor protein 1	216					actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)											GTCACCAGAGGATGAGAGTGC	0.567																																																0													51	52	52					1																	46685818		2203	4300	6503	SO:0001583	missense	541468			AK057892	CCDS30703.1	1p34.1	2012-02-01	2012-02-01	2012-02-01	ENSG00000171357	ENSG00000171357			32327	protein-coding gene	gene with protein product	"leucine repeat adaptor protein 35a"		"chromosome 1 open reading frame 190"	C1orf190		21048106	Standard	NM_001013615		Approved	FLJ25163, LRAP35a	uc010oma.2	Q96LR2	OTTHUMG00000007605	ENST00000371980.3:c.646G>A	chr1.hg19:g.46685818G>A	ENSP00000361048:p.Asp216Asn			Missense_Mutation	SNP	ENST00000371980.3	hg19	CCDS30703.1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.731556	0.30684	.	.	ENSG00000171357	ENST00000371980	.	.	.	5.33	4.36	0.52297	.	0.898838	0.09783	N	0.756440	T	0.27205	0.0667	N	0.24115	0.695	0.26481	N	0.975106	B	0.10296	0.003	B	0.11329	0.006	T	0.07443	-1.0772	9	0.30078	T	0.28	-15.8251	5.1771	0.15141	0.0803:0.145:0.6247:0.15	.	216	Q96LR2	LP35A_HUMAN	N	216	.	ENSP00000361048:D216N	D	+	1	0	C1orf190	46458405	0.992000	0.36948	0.996000	0.52242	0.954000	0.61252	1.980000	0.40618	2.503000	0.84419	0.557000	0.71058	GAT		0.567	LURAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020154.1	NM_001013615		A	46685818	G	A	46685818	3	1	789	1	0	0	0	0	1	0	0	0	2025	1174	41	2	652	2	C1orf190	1	46685818	Missense_Mutation	SNP	G	TCGA-SX-A7SM-01A-11D-A34Z-10	8645874	46685818	202564803	6	46863											
SSX2IP	117178	hgsc.bcm.edu	37	1	85116084	85116084	+	Missense_Mutation	SNP	G	G	A			TCGA-SX-A7SM-01A-11D-A34Z-10	TCGA-SX-A7SM-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6a336f0-67fb-4b2b-b9fd-c5a0fb5d699e	bab99f69-b881-4371-88d4-ffdd35a761fd	g.chr1:85116084G>A	ENST00000342203.3	-	13	1894	c.1631C>T	c.(1630-1632)tCa>tTa	p.S544L	SSX2IP_ENST00000370612.4_Missense_Mutation_p.S544L|SSX2IP_ENST00000603677.1_Missense_Mutation_p.S63L|SSX2IP_ENST00000437941.2_Missense_Mutation_p.S517L|SSX2IP_ENST00000605755.1_Missense_Mutation_p.S517L	NM_001166293.1|NM_001166294.1|NM_014021.3	NP_001159765.1|NP_001159766.1|NP_054740.3	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting protein	544					cell adhesion (GO:0007155)|centrosome organization (GO:0051297)|regulation of cell motility (GO:2000145)|regulation of Rac protein signal transduction (GO:0035020)	cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|centriolar satellite (GO:0034451)|nucleus (GO:0005634)|protein complex (GO:0043234)				endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		GCAAAAGTCTGAAGTGGAAGG	0.423																																																0													157	158	158					1																	85116084		2203	4300	6503	SO:0001583	missense	117178				CCDS699.1, CCDS53337.1	1p22.3	2008-02-05			ENSG00000117155	ENSG00000117155			16509	protein-coding gene	gene with protein product		608690					Standard	NM_014021		Approved		uc001dkj.3	Q9Y2D8	OTTHUMG00000009926	ENST00000342203.3:c.1631C>T	chr1.hg19:g.85116084G>A	ENSP00000340279:p.Ser544Leu		A8K8W0|B4DFE3|D3DT13|J3KR02|Q6P2P8|Q6ULS1|Q7L168|Q9UIX0	Missense_Mutation	SNP	ENST00000342203.3	hg19	CCDS699.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.225873	0.58668	.	.	ENSG00000117155	ENST00000342203;ENST00000437941;ENST00000370612	T;T	0.49139	0.8;0.79	5.37	4.46	0.54185	.	0.488922	0.21259	N	0.077513	T	0.19406	0.0466	L	0.44542	1.39	0.29393	N	0.862506	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.09862	-1.0655	10	0.29301	T	0.29	-27.8433	9.8504	0.41053	0.0948:0.0:0.9052:0.0	.	544;544;517	Q9Y2D8-2;Q9Y2D8;B4DFE3	.;ADIP_HUMAN;.	L	544;517;544	ENSP00000340279:S544L;ENSP00000412781:S517L	ENSP00000340279:S544L	S	-	2	0	SSX2IP	84888672	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.321000	0.51999	1.255000	0.44051	0.655000	0.94253	TCA		0.423	SSX2IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027469.1	NM_014021		A	85116084	G	A	85116084	3	1	789	1	0	0	0	0	1	0	0	0	15209	1294	45	2	221	2	SSX2IP	1	85116084	Missense_Mutation	SNP	G	TCGA-SX-A7SM-01A-11D-A34Z-10	38430266	85116084	164134537	7	46864											
DNTTIP2	30836	hgsc.bcm.edu	37	1	94341887	94341887	+	Missense_Mutation	SNP	T	T	A			TCGA-SX-A7SM-01A-11D-A34Z-10	TCGA-SX-A7SM-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6a336f0-67fb-4b2b-b9fd-c5a0fb5d699e	bab99f69-b881-4371-88d4-ffdd35a761fd	g.chr1:94341887T>A	ENST00000436063.2	-	2	1661	c.1604A>T	c.(1603-1605)cAt>cTt	p.H535L	DNTTIP2_ENST00000460191.1_5'UTR	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	535					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		ATTTTCGTCATGGTCTGATGA	0.338																																																0													144	128	133					1																	94341887		1826	3969	5795	SO:0001583	missense	30836			AY394925	CCDS44174.1	1p22.1	2008-02-05			ENSG00000067334	ENSG00000067334			24013	protein-coding gene	gene with protein product	"acidic 82 kDa protein mRNA"	611199				15047147	Standard	NM_014597		Approved	HSU15552, ERBP, TdIF2	uc001dqf.3	Q5QJE6	OTTHUMG00000010268	ENST00000436063.2:c.1604A>T	chr1.hg19:g.94341887T>A	ENSP00000411010:p.His535Leu		Q12987|Q53H59|Q5TFJ4|Q6TLI0|Q76MJ8|Q86WX9	Missense_Mutation	SNP	ENST00000436063.2	hg19	CCDS44174.1	.	.	.	.	.	.	.	.	.	.	T	2.905	-0.226532	0.06022	.	.	ENSG00000067334	ENST00000436063	T	0.14144	2.53	5.44	-0.376	0.12505	.	1.507750	0.04004	N	0.297049	T	0.03220	0.0094	L	0.57536	1.79	0.09310	N	1	B	0.29716	0.255	B	0.23275	0.045	T	0.37454	-0.9705	10	0.10902	T	0.67	.	4.1395	0.10186	0.2885:0.2841:0.0:0.4275	.	535	Q5QJE6	TDIF2_HUMAN	L	535	ENSP00000411010:H535L	ENSP00000352137:H535L	H	-	2	0	DNTTIP2	94114475	0.000000	0.05858	0.003000	0.11579	0.065000	0.16274	0.473000	0.22132	-0.194000	0.10399	0.533000	0.62120	CAT		0.338	DNTTIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028317.2	NM_014597		A	94341887	T	A	94341887	3	1	789	1	0	0	0	0	1	0	0	0	4684	1464	51	5	690	5	DNTTIP2	1	94341887	Missense_Mutation	SNP	T	TCGA-SX-A7SM-01A-11D-A34Z-10	9225803	94341887	154908734	8	46865											
HAO2	51179	hgsc.bcm.edu	37	1	119925589	119925589	+	Silent	SNP	A	A	G	rs199672779		TCGA-SX-A7SM-01A-11D-A34Z-10	TCGA-SX-A7SM-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6a336f0-67fb-4b2b-b9fd-c5a0fb5d699e	bab99f69-b881-4371-88d4-ffdd35a761fd	g.chr1:119925589A>G	ENST00000325945.3	+	3	256	c.183A>G	c.(181-183)agA>agG	p.R61R	HAO2_ENST00000361035.4_Silent_p.R74R	NM_001005783.1|NM_016527.2	NP_001005783.1|NP_057611.1	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	61	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)		TGGACACCAGAACCACAATCC	0.542																																																0													121	94	103					1																	119925589		2203	4300	6503	SO:0001819	synonymous_variant	51179			AF231917	CCDS901.1	1p13.3-p13.1	2008-07-18			ENSG00000116882	ENSG00000116882	1.1.3.15		4810	protein-coding gene	gene with protein product	"(S)-2-hydroxy-acid oxidase", "glycolate oxidase", "long-chain L-2-hydroxy acid oxidase", "growth-inhibiting protein 16"	605176				10777549	Standard	XM_005270913		Approved	HAOX2, GIG16	uc001ehr.1	Q9NYQ3	OTTHUMG00000012410	ENST00000325945.3:c.183A>G	chr1.hg19:g.119925589A>G			Q2TU86|Q5QP00|Q9UJS6	Silent	SNP	ENST00000325945.3	hg19	CCDS901.1																																																																																				0.542	HAO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034984.1	NM_001005783		G	119925589	A	G	119925589	2	3	789	1	0	0	0	0	0	0	0	1	6954	243	9	3		3	HAO2	1	119925589	Silent	SNP	A	TCGA-SX-A7SM-01A-11D-A34Z-10	25583702	119925589	129325032	9	46866											
PGLYRP4	57115	hgsc.bcm.edu	37	1	153320386	153320386	+	Frame_Shift_Del	DEL	A	A	-			TCGA-SX-A7SM-01A-11D-A34Z-10	TCGA-SX-A7SM-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6a336f0-67fb-4b2b-b9fd-c5a0fb5d699e	bab99f69-b881-4371-88d4-ffdd35a761fd	g.chr1:153320386delA	ENST00000359650.5	-	2	87	c.23delT	c.(22-24)ttcfs	p.F8fs	PGLYRP4_ENST00000368739.3_Frame_Shift_Del_p.F8fs|PGLYRP4_ENST00000490266.1_5'UTR	NM_020393.2	NP_065126.2	Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	8					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)			CAGAGCAGAGAAGACAAGAAG	0.502																																																0													51	52	52					1																	153320386		2203	4300	6503	SO:0001589	frameshift_variant	57115			AF242518	CCDS30871.1	1q21	2008-02-05			ENSG00000163218	ENSG00000163218			30015	protein-coding gene	gene with protein product	"peptidoglycan recognition protein I beta precursor"	608198				11461926	Standard	XR_241090		Approved	SBBI67, PGRPIB, PGLYRPIbeta, PGRP-Ibeta	uc001fbo.3	Q96LB8	OTTHUMG00000037057	ENST00000359650.5:c.23delT	chr1.hg19:g.153320386delA	ENSP00000352672:p.Phe8fs		A8K838|Q3B822|Q3B823|Q5SY63|Q5SY64|Q9HD75	Frame_Shift_Del	DEL	ENST00000359650.5	hg19	CCDS30871.1																																																																																				0.502	PGLYRP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089978.1	NM_020393		-	153320386	A	-	153320386	7	5	789	1	0	1	0	1	0	0	0	0	11798	246	9	0	1130	0	PGLYRP4	1	153320386	Frame_Shift_Del	DEL	A	TCGA-SX-A7SM-01A-11D-A34Z-10	33394797	153320386	95930235	10	46867											
OBSCN	84033	hgsc.bcm.edu	37	1	228558813	228558813	+	Silent	SNP	A	A	G			TCGA-SX-A7SM-01A-11D-A34Z-10	TCGA-SX-A7SM-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6a336f0-67fb-4b2b-b9fd-c5a0fb5d699e	bab99f69-b881-4371-88d4-ffdd35a761fd	g.chr1:228558813A>G	ENST00000422127.1	+	94	20378	c.20334A>G	c.(20332-20334)gtA>gtG	p.V6778V	OBSCN_ENST00000366707.4_Silent_p.V4412V|OBSCN_ENST00000570156.2_Silent_p.V7735V	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6778					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)				CCCTCGGCGTAGCCCGGCACC	0.652																																																0													30	34	33					1																	228558813		2071	4205	6276	SO:0001819	synonymous_variant	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.20334A>G	chr1.hg19:g.228558813A>G			Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	hg19	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	a	8.379	0.837015	0.16891	.	.	ENSG00000154358	ENST00000441106	.	.	.	4.79	0.632	0.17705	.	.	.	.	.	T	0.45094	0.1325	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22347	-1.0219	4	.	.	.	.	3.6268	0.08116	0.093:0.251:0.4623:0.1937	.	.	.	.	G	1395	.	.	S	+	1	0	OBSCN	226625436	0.584000	0.26766	0.857000	0.33713	0.037000	0.13140	-0.174000	0.09839	-0.032000	0.13758	-0.253000	0.11424	AGC		0.652	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		G	228558813	A	G	228558813	2	3	789	1	0	0	0	0	0	0	0	1	10814	407	15	3		3	OBSCN	1	228558813	Silent	SNP	A	TCGA-SX-A7SM-01A-11D-A34Z-10	75238427	228558813	20691808	11	46868											
HEATR5B	54497	hgsc.bcm.edu	37	2	37255868	37255868	+	Missense_Mutation	SNP	G	G	C			TCGA-SX-A7SM-01A-11D-A34Z-10	TCGA-SX-A7SM-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6a336f0-67fb-4b2b-b9fd-c5a0fb5d699e	bab99f69-b881-4371-88d4-ffdd35a761fd	g.chr2:37255868G>C	ENST00000233099.5	-	23	3652	c.3557C>G	c.(3556-3558)tCt>tGt	p.S1186C	HEATR5B_ENST00000354531.2_Missense_Mutation_p.S1186C	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1186						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)				TAGCCAATGAGAAAGTTTTTC	0.358																																																0													77	78	78					2																	37255868		2203	4300	6503	SO:0001583	missense	54497			AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.3557C>G	chr2.hg19:g.37255868G>C	ENSP00000233099:p.Ser1186Cys		B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	ENST00000233099.5	hg19	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	G	19.80	3.894573	0.72639	.	.	ENSG00000008869	ENST00000233099;ENST00000354531	T;T	0.60171	0.21;0.21	4.68	4.68	0.58851	Armadillo-like helical (1);Armadillo-type fold (1);	0.104740	0.64402	D	0.000002	T	0.76456	0.3990	M	0.77616	2.38	0.58432	D	0.999999	D	0.89917	1.0	D	0.72075	0.976	T	0.79626	-0.1725	10	0.54805	T	0.06	-7.9536	17.6029	0.88030	0.0:0.0:1.0:0.0	.	1186	Q9P2D3	HTR5B_HUMAN	C	1186	ENSP00000233099:S1186C;ENSP00000346531:S1186C	ENSP00000233099:S1186C	S	-	2	0	HEATR5B	37109372	1.000000	0.71417	0.997000	0.53966	0.964000	0.63967	7.935000	0.87658	2.143000	0.66587	0.655000	0.94253	TCT		0.358	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		C	37255868	G	C	37255868	3	2	789	1	0	0	0	0	1	0	0	0	7034	942	33	4	2714	4	HEATR5B	2	37255868	Missense_Mutation	SNP	G	TCGA-SX-A7SM-01A-11D-A34Z-10		37255868	205943505	12	46869											
POLR2D	5433	hgsc.bcm.edu	37	2	128610641	128610642	+	Frame_Shift_Ins	INS	-	-	A			TCGA-SX-A7SM-01A-11D-A34Z-10	TCGA-SX-A7SM-10A-01D-A34Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6a336f0-67fb-4b2b-b9fd-c5a0fb5d699e	bab99f69-b881-4371-88d4-ffdd35a761fd	g.chr2:128610641_128610642insA	ENST00000272645.4	-	2	167_168	c.111_112insT	c.(109-114)gttcatfs	p.H38fs	POLR2D_ENST00000487079.1_Intron|POLR2D_ENST00000409698.1_5'UTR|POLR2D_ENST00000409955.1_Frame_Shift_Ins_p.H38fs	NM_004805.3	NP_004796.1	O15514	RPB4_HUMAN	polymerase (RNA) II (DNA directed) polypeptide D	38					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus in response to heat stress (GO:0031990)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nucleotide-excision repair (GO:0006289)|positive regulation of translational initiation (GO:0045948)|positive regulation of viral transcription (GO:0050434)|recruitment of 3'-end processing factors to RNA polymerase II holoenzyme complex (GO:0034402)|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)	cytoplasmic mRNA processing body (GO:0000932)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)|nucleotide binding (GO:0000166)|translation initiation factor binding (GO:0031369)			large_intestine(1)|lung(4)|urinary_tract(1)	6	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0675)		AGAAGCATATGAACTTCTGAAT	0.386																																																0																																										SO:0001589	frameshift_variant	5433			U85510	CCDS2151.1	2q21	2013-01-21			ENSG00000144231	ENSG00000144231		"RNA polymerase subunits"	9191	protein-coding gene	gene with protein product	"RNA polymerase II subunit hsRBP4"	606017				9528765	Standard	NM_004805		Approved	RBP4	uc002tpj.3	O15514	OTTHUMG00000131531	ENST00000272645.4:c.112dupT	chr2.hg19:g.128610643_128610643dupA	ENSP00000272645:p.His38fs		Q52LT4	Frame_Shift_Ins	INS	ENST00000272645.4	hg19	CCDS2151.1																																																																																				0.386	POLR2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254388.3	NM_004805		A	128610642	-	A	128610641	7	5	789	1	0	1	1	0	0	0	0	0	12219	1290	45	0	328	0	POLR2D	2	128610641	Frame_Shift_Ins	INS	-	TCGA-SX-A7SM-01A-11D-A34Z-10	91354773	128610641	114588732	13	46870											
YSK4	80122	hgsc.bcm.edu	37	2	135744888	135744888	+	Silent	SNP	G	G	A			TCGA-SX-A7SM-01A-11D-A34Z-10	TCGA-SX-A7SM-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6a336f0-67fb-4b2b-b9fd-c5a0fb5d699e	bab99f69-b881-4371-88d4-ffdd35a761fd	g.chr2:135744888G>A	ENST00000375845.3	-	7	1584	c.1554C>T	c.(1552-1554)gtC>gtT	p.V518V	MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392915.1_Silent_p.V535V|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Silent_p.V405V	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	518							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										CAGGTATGTTGACACTATGGT	0.428																																																0													193	180	184					2																	135744888		2203	4300	6503	SO:0001819	synonymous_variant	80122			AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	26249	protein-coding gene	gene with protein product			"Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.1554C>T	chr2.hg19:g.135744888G>A			B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Silent	SNP	ENST00000375845.3	hg19	CCDS2176.2																																																																																				0.428	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		A	135744888	G	A	135744888	2	1	789	1	0	0	0	0	0	0	0	1	17500	1277	45	2		2	YSK4	2	135744888	Silent	SNP	G	TCGA-SX-A7SM-01A-11D-A34Z-10	7134247	135744888	107454485	14	46871											
TTN	7273	hgsc.bcm.edu	37	2	179615537	179615537	+	Intron	SNP	C	C	A			TCGA-SX-A7SM-01A-11D-A34Z-10	TCGA-SX-A7SM-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6a336f0-67fb-4b2b-b9fd-c5a0fb5d699e	bab99f69-b881-4371-88d4-ffdd35a761fd	g.chr2:179615537C>A	ENST00000591111.1	-	45	10585				TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.V3864L|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|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)			GTCTCATATACTTCCTCCTTC	0.383																																																0													89	87	88					2																	179615537		2203	4299	6502	SO:0001627	intron_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+2313G>T	chr2.hg19:g.179615537C>A			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	hg19		.	.	.	.	.	.	.	.	.	.	C	15.21	2.767157	0.49574	.	.	ENSG00000155657	ENST00000360870	T	0.57595	0.39	5.55	-1.34	0.09143	.	.	.	.	.	T	0.24890	0.0604	N	0.08118	0	0.24042	N	0.99608	B	0.02656	0.0	B	0.08055	0.003	T	0.26883	-1.0090	9	0.07030	T	0.85	.	8.6105	0.33800	0.0:0.55:0.1411:0.3089	.	3864	Q8WZ42-6	.	L	3864	ENSP00000354117:V3864L	ENSP00000354117:V3864L	V	-	1	0	TTN	179323782	0.142000	0.22610	0.007000	0.13788	0.428000	0.31595	0.002000	0.13061	-0.365000	0.08076	0.655000	0.94253	GTA		0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179615537	C	A	179615537	1	1	789	0	1	0	0	0	0	0	0	0	16740	565	20	4		4	TTN	2	179615537	Intron	SNP	C	TCGA-SX-A7SM-01A-11D-A34Z-10	43870649	179615537	63583836	15	46872											
STAT1	6772	hgsc.bcm.edu	37	2	191874648	191874649	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-SX-A7SM-01A-11D-A34Z-10	TCGA-SX-A7SM-10A-01D-A34Z-10	TG	TG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6a336f0-67fb-4b2b-b9fd-c5a0fb5d699e	bab99f69-b881-4371-88d4-ffdd35a761fd	g.chr2:191874648_191874649delTG	ENST00000361099.3	-	3	468_469	c.81_82delCA	c.(79-84)cccatgfs	p.M28fs	STAT1_ENST00000392322.3_Frame_Shift_Del_p.M28fs|STAT1_ENST00000409465.1_Frame_Shift_Del_p.M28fs|STAT1_ENST00000540176.1_Frame_Shift_Del_p.M28fs|STAT1_ENST00000392323.2_Frame_Shift_Del_p.M30fs	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	28					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)			CTGATTTCCATGGGAAAACTGT	0.406																																																0																																										SO:0001589	frameshift_variant	6772				CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"SH2 domain containing"	11362	protein-coding gene	gene with protein product	"transcription factor ISGF-3 components p91/p84"	600555	"signal transducer and activator of transcription 1, 91kD"			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.81_82delCA	chr2.hg19:g.191874648_191874649delTG	ENSP00000354394:p.Met28fs		A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Frame_Shift_Del	DEL	ENST00000361099.3	hg19	CCDS2309.1																																																																																				0.406	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255997.3	NM_007315		-	191874649	TG	-	191874648	7	5	789	1	0	1	0	1	0	0	0	0	15269	1464	51	0	2266	0	STAT1	2	191874648	Frame_Shift_Del	DEL	TG	TCGA-SX-A7SM-01A-11D-A34Z-10	12259111	191874648	51324725	16	46873											
ANKMY1	51281	hgsc.bcm.edu	37	2	241463492	241463492	+	Missense_Mutation	SNP	C	C	A			TCGA-SX-A7SM-01A-11D-A34Z-10	TCGA-SX-A7SM-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6a336f0-67fb-4b2b-b9fd-c5a0fb5d699e	bab99f69-b881-4371-88d4-ffdd35a761fd	g.chr2:241463492C>A	ENST00000272972.3	-	7	1589	c.1375G>T	c.(1375-1377)Ggc>Tgc	p.G459C	ANKMY1_ENST00000536462.1_Missense_Mutation_p.G271C|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000405002.1_Missense_Mutation_p.G229C|ANKMY1_ENST00000462004.1_5'Flank|ANKMY1_ENST00000373318.2_Missense_Mutation_p.G318C|ANKMY1_ENST00000401804.1_Missense_Mutation_p.G548C|ANKMY1_ENST00000391987.1_Missense_Mutation_p.G459C|ANKMY1_ENST00000373320.4_Missense_Mutation_p.G229C|ANKMY1_ENST00000405523.3_Missense_Mutation_p.G318C|ANKMY1_ENST00000361678.4_Missense_Mutation_p.G318C|ANKMY1_ENST00000403283.1_Missense_Mutation_p.G397C	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	459							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)		CACAGACTGCCCCGGTCTGTG	0.597																																																0													120	107	111					2																	241463492		2203	4300	6503	SO:0001583	missense	51281			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.1375G>T	chr2.hg19:g.241463492C>A	ENSP00000272972:p.Gly459Cys		B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Missense_Mutation	SNP	ENST00000272972.3	hg19	CCDS2536.1	.	.	.	.	.	.	.	.	.	.	C	6.247	0.413729	0.11812	.	.	ENSG00000144504	ENST00000373318;ENST00000272972;ENST00000361678;ENST00000391987;ENST00000373320;ENST00000403283;ENST00000401804;ENST00000536462;ENST00000405523;ENST00000405002	T;T;T;T;T;T;T;T;T;T	0.54479	2.98;0.59;2.31;0.59;4.46;2.54;0.57;2.37;2.3;2.63	4.06	-8.12	0.01078	Ankyrin repeat-containing domain (1);	2.746800	0.00846	N	0.001781	T	0.25975	0.0633	N	0.03608	-0.345	0.09310	N	1	B;B;B;B;B;B	0.11235	0.0;0.004;0.0;0.001;0.0;0.0	B;B;B;B;B;B	0.08055	0.0;0.003;0.001;0.001;0.001;0.0	T	0.27536	-1.0071	10	0.49607	T	0.09	-18.3189	6.7555	0.23512	0.6542:0.2072:0.0:0.1386	.	459;271;229;318;318;459	Q4ZFV3;F5H558;Q9P2S6-4;Q6GPI0;Q9P2S6-2;Q9P2S6	.;.;.;.;.;ANKY1_HUMAN	C	318;459;318;459;229;397;548;271;318;229	ENSP00000362415:G318C;ENSP00000272972:G459C;ENSP00000355097:G318C;ENSP00000375847:G459C;ENSP00000362417:G229C;ENSP00000383968:G397C;ENSP00000385887:G548C;ENSP00000444707:G271C;ENSP00000385635:G318C;ENSP00000385145:G229C	ENSP00000272972:G459C	G	-	1	0	ANKMY1	241112165	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.025000	0.00640	-2.201000	0.00746	-1.337000	0.01257	GGC		0.597	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257187.2	NM_017844		A	241463492	C	A	241463492	3	1	789	1	0	0	0	0	1	0	0	0	634	623	22	4	1494	4	ANKMY1	2	241463492	Missense_Mutation	SNP	C	TCGA-SX-A7SM-01A-11D-A34Z-10	49588844	241463492	1735881	17	46874											
SETD2	29072	hgsc.bcm.edu	37	3	47165283	47165286	+	Frame_Shift_Del	DEL	TTTT	TTTT	-			TCGA-SX-A7SM-01A-11D-A34Z-10	TCGA-SX-A7SM-10A-01D-A34Z-10	TTTT	TTTT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6a336f0-67fb-4b2b-b9fd-c5a0fb5d699e	bab99f69-b881-4371-88d4-ffdd35a761fd	g.chr3:47165283_47165286delTTTT	ENST00000409792.3	-	3	882_885	c.840_843delAAAA	c.(838-843)aaaaaafs	p.KK280fs		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	280					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)		GGGAATCTTCTTTTTTTGAGGAAA	0.338			"N, F, S, Mis"		clear cell renal carcinoma																																		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0																																										SO:0001589	frameshift_variant	29072			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.840_843delAAAA	chr3.hg19:g.47165283_47165286delTTTT	ENSP00000386759:p.Lys280fs		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Frame_Shift_Del	DEL	ENST00000409792.3	hg19	CCDS2749.2																																																																																				0.338	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		-	47165286	TTTT	-	47165283	7	5	789	1	0	1	0	1	0	0	0	0	14137	1606	56	0	6927	0	SETD2	3	47165283	Frame_Shift_Del	DEL	TTTT	TCGA-SX-A7SM-01A-11D-A34Z-10		47165283	150857147	18	46875											
ZFYVE28	57732	hgsc.bcm.edu	37	4	2337512	2337512	+	Missense_Mutation	SNP	G	G	C			TCGA-SX-A7SM-01A-11D-A34Z-10	TCGA-SX-A7SM-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6a336f0-67fb-4b2b-b9fd-c5a0fb5d699e	bab99f69-b881-4371-88d4-ffdd35a761fd	g.chr4:2337512G>C	ENST00000290974.2	-	6	960	c.621C>G	c.(619-621)gaC>gaG	p.D207E	ZFYVE28_ENST00000515169.1_Missense_Mutation_p.D137E|ZFYVE28_ENST00000511071.1_Intron|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.D137E|ZFYVE28_ENST00000509171.1_Intron|ZFYVE28_ENST00000503000.1_Missense_Mutation_p.D207E	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	207					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						GGTACCCGAAGTCCAGGGCCC	0.632																																																0													93	74	80					4																	2337512		2184	4275	6459	SO:0001583	missense	57732			AK126692	CCDS33942.1, CCDS54708.1, CCDS54709.1, CCDS54710.1, CCDS54711.1, CCDS54712.1	4p16.3	2008-05-02			ENSG00000159733	ENSG00000159733		"Zinc fingers, FYVE domain containing"	29334	protein-coding gene	gene with protein product		614176				10997877	Standard	NM_020972		Approved	KIAA1643	uc003gex.2	Q9HCC9	OTTHUMG00000160292	ENST00000290974.2:c.621C>G	chr4.hg19:g.2337512G>C	ENSP00000290974:p.Asp207Glu		B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3	Missense_Mutation	SNP	ENST00000290974.2	hg19	CCDS33942.1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.282949	0.23392	.	.	ENSG00000159733	ENST00000290974;ENST00000515312;ENST00000515169;ENST00000503000	T;T;T;T	0.28255	1.62;1.62;2.7;1.62	4.81	0.466	0.16716	.	0.344757	0.32218	N	0.006401	T	0.10380	0.0254	N	0.03608	-0.345	0.23492	N	0.997569	B	0.09022	0.002	B	0.08055	0.003	T	0.22277	-1.0221	10	0.25106	T	0.35	.	5.0301	0.14405	0.0942:0.5179:0.2697:0.1182	.	207	Q9HCC9	LST2_HUMAN	E	207;137;137;207	ENSP00000290974:D207E;ENSP00000426299:D137E;ENSP00000425766:D137E;ENSP00000423694:D207E	ENSP00000290974:D207E	D	-	3	2	ZFYVE28	2307310	1.000000	0.71417	0.828000	0.32881	0.980000	0.70556	2.009000	0.40903	0.447000	0.26695	0.533000	0.62120	GAC		0.632	ZFYVE28-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360078.1	XM_035371		C	2337512	G	C	2337512	3	2	789	1	0	0	0	0	1	0	0	0	17675	1020	36	4	2294	4	ZFYVE28	4	2337512	Missense_Mutation	SNP	G	TCGA-SX-A7SM-01A-11D-A34Z-10		2337512	188816764	19	46876											
NOP14	8602	hgsc.bcm.edu	37	4	2946954	2946954	+	Silent	SNP	G	G	A			TCGA-SX-A7SM-01A-11D-A34Z-10	TCGA-SX-A7SM-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6a336f0-67fb-4b2b-b9fd-c5a0fb5d699e	bab99f69-b881-4371-88d4-ffdd35a761fd	g.chr4:2946954G>A	ENST00000314262.6	-	12	1686	c.1638C>T	c.(1636-1638)ctC>ctT	p.L546L	NOP14_ENST00000502735.1_Silent_p.L546L|NOP14-AS1_ENST00000515194.1_RNA|NOP14-AS1_ENST00000505731.1_RNA|NOP14_ENST00000416614.2_Silent_p.L546L|NOP14_ENST00000398071.4_Silent_p.L546L|NOP14-AS1_ENST00000503709.1_RNA|NOP14-AS1_ENST00000507702.1_RNA	NM_003703.1	NP_003694.1	P78316	NOP14_HUMAN	NOP14 nucleolar protein	546					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						TCAAATAAATGAGCTGGAAAG	0.512																																																0													31	29	30					4																	2946954		2198	4289	6487	SO:0001819	synonymous_variant	8602			AB000467	CCDS33945.1	4p16.3	2012-12-10	2012-12-10	2008-10-13	ENSG00000087269	ENSG00000087269			16821	protein-coding gene	gene with protein product	"NOP14 homolog (S. cerevisiae)"	611526	"chromosome 4 open reading frame 9", "nucleolar protein 14", "nucleolar protein 14 homolog (yeast)", "NOP14 nucleolar protein homolog (yeast)"	C4orf9, NOL14		9734812, 11694595	Standard	XR_241655		Approved	RES4-25, UTP2	uc003ggj.1	P78316	OTTHUMG00000159911	ENST00000314262.6:c.1638C>T	chr4.hg19:g.2946954G>A			D3DVR6|Q7LGI5|Q7Z6K0|Q8TBR6	Silent	SNP	ENST00000314262.6	hg19	CCDS33945.1																																																																																				0.512	NOP14-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358135.2	NM_003703		A	2946954	G	A	2946954	2	1	789	1	0	0	0	0	0	0	0	1	10538	1277	45	2		2	NOP14	4	2946954	Silent	SNP	G	TCGA-SX-A7SM-01A-11D-A34Z-10	609442	2946954	188207322	20	46877											
FNIP2	57600	hgsc.bcm.edu	37	4	159812799	159812800	+	Splice_Site	INS	-	-	T			TCGA-SX-A7SM-01A-11D-A34Z-10	TCGA-SX-A7SM-10A-01D-A34Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6a336f0-67fb-4b2b-b9fd-c5a0fb5d699e	bab99f69-b881-4371-88d4-ffdd35a761fd	g.chr4:159812799_159812800insT	ENST00000264433.6	+	15	3225		c.e15+1		FNIP2_ENST00000379346.3_Splice_Site|C4orf45_ENST00000508011.1_5'Flank	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2						intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		TGCTGATTTTGTAAGTACTGGT	0.347																																																0																																										SO:0001630	splice_region_variant	57600			AB040883	CCDS47155.1	4q32.1	2012-10-31			ENSG00000052795	ENSG00000052795			29280	protein-coding gene	gene with protein product	"O6-methylguanine-induced apoptosis 1"	612768				18403135	Standard	NM_020840		Approved	KIAA1450, FNIPL, MAPO1	uc003iqe.4	Q9P278	OTTHUMG00000161983	ENST00000264433.6:c.3150+1->T	chr4.hg19:g.159812800_159812800dupT			Q05DC3|Q96I31|Q9H994	Splice_Site	INS	ENST00000264433.6	hg19	CCDS47155.1																																																																																				0.347	FNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366602.1	NM_020840	Intron	T	159812800	-	T	159812799	8	5	789	1	0	1	1	0	0	0	1	0	5978	1391	48	0	3209	0	FNIP2	4	159812799	Splice_Site	INS	-	TCGA-SX-A7SM-01A-11D-A34Z-10	156865845	159812799	31341477	21	46878											
BHMT2	23743	hgsc.bcm.edu	37	5	78375253	78375253	+	Missense_Mutation	SNP	T	T	A			TCGA-SX-A7SM-01A-11D-A34Z-10	TCGA-SX-A7SM-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6a336f0-67fb-4b2b-b9fd-c5a0fb5d699e	bab99f69-b881-4371-88d4-ffdd35a761fd	g.chr5:78375253T>A	ENST00000255192.3	+	3	294	c.228T>A	c.(226-228)ttT>ttA	p.F76L	BHMT2_ENST00000521567.1_Missense_Mutation_p.F76L|DMGDH_ENST00000520388.1_Intron	NM_017614.4	NP_060084.2	Q9H2M3	BHMT2_HUMAN	betaine--homocysteine S-methyltransferase 2	76	Hcy-binding. {ECO:0000255|PROSITE- ProRule:PRU00333}.				L-methionine salvage (GO:0071267)|S-adenosylmethionine metabolic process (GO:0046500)|S-methylmethionine metabolic process (GO:0033477)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|S-methylmethionine-homocysteine S-methyltransferase activity (GO:0061627)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)	CTTTTACCTTTTCTGCCAGTG	0.398																																																0													87	83	84					5																	78375253		2203	4300	6503	SO:0001583	missense	23743				CCDS4045.1, CCDS54871.1	5q13	2010-04-28	2010-04-28		ENSG00000132840	ENSG00000132840	2.1.1.5		1048	protein-coding gene	gene with protein product		605932				11087663, 18230605	Standard	NM_017614		Approved		uc003kft.3	Q9H2M3	OTTHUMG00000108158	ENST00000255192.3:c.228T>A	chr5.hg19:g.78375253T>A	ENSP00000255192:p.Phe76Leu		B7Z516|Q9NXX7	Missense_Mutation	SNP	ENST00000255192.3	hg19	CCDS4045.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.814416	0.90790	.	.	ENSG00000132840	ENST00000255192;ENST00000521567;ENST00000518666	T;T;T	0.21191	2.02;2.02;2.02	5.72	3.33	0.38152	Homocysteine S-methyltransferase (4);	0.000000	0.85682	D	0.000000	T	0.50786	0.1636	M	0.92923	3.36	0.26429	N	0.975969	D;P	0.76494	0.999;0.853	D;P	0.79108	0.992;0.5	T	0.48692	-0.9013	10	0.87932	D	0	-16.3792	8.4267	0.32733	0.0:0.2141:0.0:0.7859	.	76;76	B7Z516;Q9H2M3	.;BHMT2_HUMAN	L	76;76;16	ENSP00000255192:F76L;ENSP00000430278:F76L;ENSP00000428640:F16L	ENSP00000255192:F76L	F	+	3	2	BHMT2	78411009	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.584000	0.36589	1.012000	0.39366	0.533000	0.62120	TTT		0.398	BHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226962.2	NM_017614		A	78375253	T	A	78375253	3	1	789	1	0	0	0	0	1	0	0	0	1426	1838	64	5	238	5	BHMT2	5	78375253	Missense_Mutation	SNP	T	TCGA-SX-A7SM-01A-11D-A34Z-10		78375253	102540007	22	46879											
FEM1C	56929	hgsc.bcm.edu	37	5	114860849	114860849	+	Missense_Mutation	SNP	G	G	C			TCGA-SX-A7SM-01A-11D-A34Z-10	TCGA-SX-A7SM-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6a336f0-67fb-4b2b-b9fd-c5a0fb5d699e	bab99f69-b881-4371-88d4-ffdd35a761fd	g.chr5:114860849G>C	ENST00000274457.3	-	3	1571	c.1010C>G	c.(1009-1011)aCc>aGc	p.T337S		NM_020177.2	NP_064562.1	Q96JP0	FEM1C_HUMAN	fem-1 homolog c (C. elegans)	337					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(5)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	18		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)		ATAGTAAGAGGTATCAGGATG	0.418																																																0													113	116	115					5																	114860849		2202	4300	6502	SO:0001583	missense	56929				CCDS4118.1	5q22	2013-01-10	2006-11-08		ENSG00000145780	ENSG00000145780		"Ankyrin repeat domain containing"	16933	protein-coding gene	gene with protein product		608767				14527725, 11733146	Standard	NM_020177		Approved	KIAA1785, EUROIMAGE686608, EUROIMAGE783647, FEM1A	uc003krb.1	Q96JP0	OTTHUMG00000128895	ENST00000274457.3:c.1010C>G	chr5.hg19:g.114860849G>C	ENSP00000274457:p.Thr337Ser		B2RE47|Q8N3V8|Q9H704|Q9NPL6|Q9NPL9	Missense_Mutation	SNP	ENST00000274457.3	hg19	CCDS4118.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.647404	0.67358	.	.	ENSG00000145780	ENST00000274457	T	0.72835	-0.69	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.75874	0.3909	M	0.82517	2.595	0.58432	D	0.999999	P	0.44241	0.829	B	0.40256	0.324	T	0.80826	-0.1209	10	0.62326	D	0.03	-21.2018	19.502	0.95098	0.0:0.0:1.0:0.0	.	337	Q96JP0	FEM1C_HUMAN	S	337	ENSP00000274457:T337S	ENSP00000274457:T337S	T	-	2	0	FEM1C	114888748	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.809000	0.99208	2.602000	0.87976	0.655000	0.94253	ACC		0.418	FEM1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250857.3	NM_020177		C	114860849	G	C	114860849	3	2	789	1	0	0	0	0	1	0	0	0	5813	1261	44	4	847	4	FEM1C	5	114860849	Missense_Mutation	SNP	G	TCGA-SX-A7SM-01A-11D-A34Z-10	36485596	114860849	66054411	23	46880											
GRAMD3	65983	hgsc.bcm.edu	37	5	125807996	125807996	+	Splice_Site	SNP	A	A	G			TCGA-SX-A7SM-01A-11D-A34Z-10	TCGA-SX-A7SM-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6a336f0-67fb-4b2b-b9fd-c5a0fb5d699e	bab99f69-b881-4371-88d4-ffdd35a761fd	g.chr5:125807996A>G	ENST00000285689.3	+	4	843	c.382A>G	c.(382-384)Agc>Ggc	p.S128G	GRAMD3_ENST00000502348.1_Splice_Site_p.S19G|GRAMD3_ENST00000542322.1_Splice_Site_p.S136G|GRAMD3_ENST00000515200.1_Splice_Site_p.S105G|GRAMD3_ENST00000513040.1_Splice_Site_p.S143G|GRAMD3_ENST00000511134.1_Splice_Site_p.S112G|GRAMD3_ENST00000514932.1_3'UTR|GRAMD3_ENST00000543198.1_Splice_Site_p.S105G|GRAMD3_ENST00000544396.1_Splice_Site_p.S24G|RP11-517I3.1_ENST00000515808.1_RNA	NM_023927.2	NP_076416.2	Q96HH9	GRAM3_HUMAN	GRAM domain containing 3	128	GRAM.					cytoplasmic microtubule (GO:0005881)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)		ACTGAAGCAAAGTAAGTTCTG	0.388																																																0													159	146	150					5																	125807996		2203	4300	6503	SO:0001630	splice_region_variant	65983			BC008590	CCDS4136.1, CCDS54891.1, CCDS54892.1, CCDS54893.1, CCDS54894.1	5q23.2	2014-02-12	2005-11-03		ENSG00000155324	ENSG00000155324			24911	protein-coding gene	gene with protein product	"HCV NS3 transactivated protein 2"					12477932	Standard	NM_023927		Approved	NS3TP2, FLJ21313	uc011cwt.2	Q96HH9	OTTHUMG00000128943	ENST00000285689.3:c.382+1A>G	chr5.hg19:g.125807996A>G			B7Z1F2|B7Z3R1|B7Z6D8|B7Z8T2|D3DSZ3|Q9H753	Missense_Mutation	SNP	ENST00000285689.3	hg19	CCDS4136.1	.	.	.	.	.	.	.	.	.	.	A	19.31	3.802280	0.70682	.	.	ENSG00000155324	ENST00000513040;ENST00000506445;ENST00000543367;ENST00000285689;ENST00000515200;ENST00000542322;ENST00000544396;ENST00000543198;ENST00000502348;ENST00000511134	D;D;D;D;D;D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3	5.87	4.72	0.59763	GRAM (2);	0.111914	0.85682	N	0.000000	D	0.92166	0.7516	M	0.74546	2.27	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.995;0.997;0.991;0.999	D;D;D;P;D	0.72338	0.958;0.923;0.977;0.892;0.958	D	0.92000	0.5610	10	0.56958	D	0.05	.	11.7093	0.51616	0.9307:0.0:0.0693:0.0	.	112;24;136;143;128	B7Z8T2;B7Z1F2;B7Z3R1;B7Z6D8;Q96HH9	.;.;.;.;GRAM3_HUMAN	G	143;142;112;128;105;136;24;105;19;112	ENSP00000426120:S143G;ENSP00000424985:S142G;ENSP00000285689:S128G;ENSP00000426143:S105G;ENSP00000441876:S136G;ENSP00000444049:S24G;ENSP00000442902:S105G;ENSP00000427596:S19G;ENSP00000426088:S112G	ENSP00000285689:S128G	S	+	1	0	GRAMD3	125835895	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	7.449000	0.80643	1.166000	0.42689	0.533000	0.62120	AGC		0.388	GRAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250922.2	NM_023927	Missense_Mutation	G	125807996	A	G	125807996	5	3	789	1	0	0	0	0	0	0	1	0	6753	86	3	3	610	3	GRAMD3	5	125807996	Splice_Site	SNP	A	TCGA-SX-A7SM-01A-11D-A34Z-10	10947147	125807996	55107264	24	46881											
PCDHGA1	56114	hgsc.bcm.edu	37	5	140710446	140710446	+	Silent	SNP	C	C	G			TCGA-SX-A7SM-01A-11D-A34Z-10	TCGA-SX-A7SM-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6a336f0-67fb-4b2b-b9fd-c5a0fb5d699e	bab99f69-b881-4371-88d4-ffdd35a761fd	g.chr5:140710446C>G	ENST00000517417.1	+	1	195	c.195C>G	c.(193-195)cgC>cgG	p.R65R	AC005618.6_ENST00000606901.1_lincRNA|PCDHGA1_ENST00000378105.3_Silent_p.R65R	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	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(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)			GCGGAGTCCGCATCGTCTCCA	0.587																																																0													108	115	113					5																	140710446		2203	4300	6503	SO:0001819	synonymous_variant	56114			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.195C>G	chr5.hg19:g.140710446C>G			Q2M273|Q9Y5D6	Silent	SNP	ENST00000517417.1	hg19	CCDS54922.1																																																																																				0.587	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		G	140710446	C	G	140710446	2	3	789	1	0	0	0	0	0	0	0	1	11552	697	25	4		4	PCDHGA1	5	140710446	Silent	SNP	C	TCGA-SX-A7SM-01A-11D-A34Z-10	14902450	140710446	40204814	25	46882											
CLK4	57396	hgsc.bcm.edu	37	5	178032332	178032332	+	Missense_Mutation	SNP	T	T	C			TCGA-SX-A7SM-01A-11D-A34Z-10	TCGA-SX-A7SM-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6a336f0-67fb-4b2b-b9fd-c5a0fb5d699e	bab99f69-b881-4371-88d4-ffdd35a761fd	g.chr5:178032332T>C	ENST00000316308.4	-	11	1354	c.1186A>G	c.(1186-1188)Ata>Gta	p.I396V		NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	396	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)		TGTTGTGGTATGGGTCCTAAT	0.343																																																0													164	148	153					5																	178032332		2203	4299	6502	SO:0001583	missense	57396			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.1186A>G	chr5.hg19:g.178032332T>C	ENSP00000316948:p.Ile396Val			Missense_Mutation	SNP	ENST00000316308.4	hg19	CCDS4437.1	.	.	.	.	.	.	.	.	.	.	T	13.56	2.273315	0.40194	.	.	ENSG00000113240	ENST00000316308	T	0.19938	2.11	5.47	5.47	0.80525	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.145745	0.64402	D	0.000013	T	0.19846	0.0477	L	0.37697	1.125	0.80722	D	1	B;B	0.21225	0.053;0.053	B;B	0.34991	0.193;0.193	T	0.09574	-1.0668	10	0.30854	T	0.27	.	8.8995	0.35485	0.1663:0.0:0.0:0.8337	.	396;396	B9EG64;Q9HAZ1	.;CLK4_HUMAN	V	396	ENSP00000316948:I396V	ENSP00000316948:I396V	I	-	1	0	CLK4	177964938	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	2.255000	0.43222	2.061000	0.61500	0.477000	0.44152	ATA		0.343	CLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253479.2			C	178032332	T	C	178032332	3	2	789	1	0	0	0	0	1	0	0	0	3541	1464	51	3	271	3	CLK4	5	178032332	Missense_Mutation	SNP	T	TCGA-SX-A7SM-01A-11D-A34Z-10	37321886	178032332	2882928	26	46883											
GFPT2	9945	hgsc.bcm.edu	37	5	179743447	179743447	+	Missense_Mutation	SNP	C	C	A			TCGA-SX-A7SM-01A-11D-A34Z-10	TCGA-SX-A7SM-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6a336f0-67fb-4b2b-b9fd-c5a0fb5d699e	bab99f69-b881-4371-88d4-ffdd35a761fd	g.chr5:179743447C>A	ENST00000253778.8	-	13	1336	c.1167G>T	c.(1165-1167)ttG>ttT	p.L389F	GFPT2_ENST00000520165.1_5'Flank	NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	389	SIS 1. {ECO:0000255|PROSITE- ProRule:PRU00797}.				carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glutamine metabolic process (GO:0006541)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	TCAGTTCCTCCAAAACTTGCC	0.507																																																0													85	82	83					5																	179743447		2029	4213	6242	SO:0001583	missense	9945			AB016789	CCDS43411.1	5q	2008-07-18			ENSG00000131459	ENSG00000131459			4242	protein-coding gene	gene with protein product	"glutamine: fructose-6-phosphate aminotransferase 2"	603865				10198162	Standard	NM_005110		Approved	GFAT2	uc003mlw.1	O94808	OTTHUMG00000163442	ENST00000253778.8:c.1167G>T	chr5.hg19:g.179743447C>A	ENSP00000253778:p.Leu389Phe		Q53XM2|Q9BWS4	Missense_Mutation	SNP	ENST00000253778.8	hg19	CCDS43411.1	.	.	.	.	.	.	.	.	.	.	C	8.577	0.881520	0.17467	.	.	ENSG00000131459	ENST00000253778	T	0.66815	-0.23	5.89	2.61	0.31194	Sugar isomerase (SIS) (2);	0.000000	0.85682	D	0.000000	T	0.54159	0.1841	N	0.01686	-0.76	0.80722	D	1	D	0.71674	0.998	D	0.72075	0.976	T	0.53258	-0.8464	9	.	.	.	-19.7846	10.2944	0.43616	0.0:0.7537:0.0:0.2463	.	389	O94808	GFPT2_HUMAN	F	389	ENSP00000253778:L389F	.	L	-	3	2	GFPT2	179676053	0.999000	0.42202	0.955000	0.39395	0.945000	0.59286	0.747000	0.26290	0.570000	0.29347	0.561000	0.74099	TTG		0.507	GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373444.4	NM_005110		A	179743447	C	A	179743447	3	1	789	1	0	0	0	0	1	0	0	0	6348	593	21	4	909	4	GFPT2	5	179743447	Missense_Mutation	SNP	C	TCGA-SX-A7SM-01A-11D-A34Z-10	1711115	179743447	1171813	27	46884											
GLI3	2737	hgsc.bcm.edu	37	7	42187973	42187973	+	Silent	SNP	C	C	T			TCGA-SX-A7SM-01A-11D-A34Z-10	TCGA-SX-A7SM-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6a336f0-67fb-4b2b-b9fd-c5a0fb5d699e	bab99f69-b881-4371-88d4-ffdd35a761fd	g.chr7:42187973C>T	ENST00000395925.3	-	3	303	c.219G>A	c.(217-219)gaG>gaA	p.E73E	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	73					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						TTGAAGGTTCCTCACTGACTT	0.532									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																																							0													150	121	131					7																	42187973		2203	4300	6503	SO:0001819	synonymous_variant	2737	Familial Cancer Database	;		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.219G>A	chr7.hg19:g.42187973C>T			A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Silent	SNP	ENST00000395925.3	hg19	CCDS5465.1																																																																																				0.532	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		T	42187973	C	T	42187973	2	4	789	1	0	0	0	0	0	0	0	1	6441	680	24	2		2	GLI3	7	42187973	Silent	SNP	C	TCGA-SX-A7SM-01A-11D-A34Z-10		42187973	116950690	28	46885											
DBF4	10926	hgsc.bcm.edu	37	7	87530188	87530188	+	Missense_Mutation	SNP	G	G	A			TCGA-SX-A7SM-01A-11D-A34Z-10	TCGA-SX-A7SM-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6a336f0-67fb-4b2b-b9fd-c5a0fb5d699e	bab99f69-b881-4371-88d4-ffdd35a761fd	g.chr7:87530188G>A	ENST00000265728.1	+	10	1423	c.919G>A	c.(919-921)Gaa>Aaa	p.E307K		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 zinc finger	307					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)				TGAAGATCTAGAAACTGTAAA	0.318																																																0													111	125	120					7																	87530188		2203	4300	6503	SO:0001583	missense	10926			AF160876	CCDS5611.1	7q21.3	2014-02-17	2014-02-17		ENSG00000006634	ENSG00000006634		"Zinc fingers, DBF-type"	17364	protein-coding gene	gene with protein product	"activator of S phase kinase", "chiffon homolog (Drosophila)", "zinc finger, DBF-type containing 1", "DBF4 zinc finger A"	604281	"DBF4 homolog (S. cerevisiae)"			10373557, 10517317	Standard	NM_006716		Approved	ASK, chif, ZDBF1, DBF4A	uc003ujf.1	Q9UBU7	OTTHUMG00000131034	ENST00000265728.1:c.919G>A	chr7.hg19:g.87530188G>A	ENSP00000265728:p.Glu307Lys		A4D1D8|A8K954|O75226|Q75MS6|Q75N01|Q9Y2M6	Missense_Mutation	SNP	ENST00000265728.1	hg19	CCDS5611.1	.	.	.	.	.	.	.	.	.	.	G	16.20	3.054701	0.55325	.	.	ENSG00000006634	ENST00000265728	T	0.32272	1.46	4.93	3.97	0.46021	Zinc finger, DBF-type (3);	0.496290	0.22384	N	0.060764	T	0.25082	0.0609	L	0.36672	1.1	0.36946	D	0.892611	B;B	0.32031	0.304;0.352	B;B	0.34242	0.068;0.178	T	0.17228	-1.0376	10	0.40728	T	0.16	-16.1246	11.2252	0.48880	0.0:0.2654:0.7346:0.0	.	83;307	B7Z8C6;Q9UBU7	.;DBF4A_HUMAN	K	307	ENSP00000265728:E307K	ENSP00000265728:E307K	E	+	1	0	DBF4	87368124	0.975000	0.34042	0.896000	0.35187	0.979000	0.70002	1.952000	0.40343	2.663000	0.90544	0.591000	0.81541	GAA		0.318	DBF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253678.1	NM_006716		A	87530188	G	A	87530188	3	1	789	1	0	0	0	0	1	0	0	0	4250	943	33	2	957	2	DBF4	7	87530188	Missense_Mutation	SNP	G	TCGA-SX-A7SM-01A-11D-A34Z-10	45342215	87530188	71608475	29	46886											
MUC17	140453	hgsc.bcm.edu	37	7	100674406	100674406	+	Missense_Mutation	SNP	A	A	T			TCGA-SX-A7SM-01A-11D-A34Z-10	TCGA-SX-A7SM-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6a336f0-67fb-4b2b-b9fd-c5a0fb5d699e	bab99f69-b881-4371-88d4-ffdd35a761fd	g.chr7:100674406A>T	ENST00000306151.4	+	2	152	c.88A>T	c.(88-90)Agt>Tgt	p.S30C		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	30					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)					TTCAGACCTCAGTGTGAACAG	0.532																																																0													191	167	175					7																	100674406		2203	4300	6503	SO:0001583	missense	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.88A>T	chr7.hg19:g.100674406A>T	ENSP00000302716:p.Ser30Cys		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	hg19	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	A	4.680	0.126381	0.08931	.	.	ENSG00000169876	ENST00000306151	T	0.02682	4.2	1.9	-0.636	0.11508	.	.	.	.	.	T	0.02156	0.0067	N	0.08118	0	0.09310	N	1	D	0.57899	0.981	P	0.49477	0.612	T	0.45249	-0.9274	9	0.87932	D	0	.	2.6293	0.04939	0.4862:0.3252:0.1887:0.0	.	30	Q685J3	MUC17_HUMAN	C	30	ENSP00000302716:S30C	ENSP00000302716:S30C	S	+	1	0	MUC17	100461126	0.000000	0.05858	0.001000	0.08648	0.190000	0.23558	0.102000	0.15272	-0.154000	0.11118	0.411000	0.27672	AGT		0.532	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		T	100674406	A	T	100674406	3	4	789	1	0	0	0	0	1	0	0	0	9976	188	7	5	94	5	MUC17	7	100674406	Missense_Mutation	SNP	A	TCGA-SX-A7SM-01A-11D-A34Z-10	13144218	100674406	58464257	30	46887	503	2									
MUC17	140453	hgsc.bcm.edu	37	7	100674408	100674408	+	Frame_Shift_Del	DEL	T	T	-			TCGA-SX-A7SM-01A-11D-A34Z-10	TCGA-SX-A7SM-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6a336f0-67fb-4b2b-b9fd-c5a0fb5d699e	bab99f69-b881-4371-88d4-ffdd35a761fd	g.chr7:100674408delT	ENST00000306151.4	+	2	154	c.90delT	c.(88-90)agtfs	p.S30fs		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	30					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)					CAGACCTCAGTGTGAACAGGG	0.532																																																0													194	169	177					7																	100674408		2203	4300	6503	SO:0001589	frameshift_variant	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.90delT	chr7.hg19:g.100674408delT	ENSP00000302716:p.Ser30fs		O14761|Q685J2|Q8TDH7	Frame_Shift_Del	DEL	ENST00000306151.4	hg19	CCDS34711.1																																																																																				0.532	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		-	100674408	T	-	100674408	7	5	789	1	0	1	0	1	0	0	0	0	9976	1693	59	0	96	0	MUC17	7	100674408	Frame_Shift_Del	DEL	T	TCGA-SX-A7SM-01A-11D-A34Z-10	2	100674408	58464255	31	46888	503	2									
VPS37A	137492	hgsc.bcm.edu	37	8	17142073	17142073	+	Missense_Mutation	SNP	A	A	G			TCGA-SX-A7SM-01A-11D-A34Z-10	TCGA-SX-A7SM-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6a336f0-67fb-4b2b-b9fd-c5a0fb5d699e	bab99f69-b881-4371-88d4-ffdd35a761fd	g.chr8:17142073A>G	ENST00000324849.4	+	10	1735	c.1061A>G	c.(1060-1062)gAg>gGg	p.E354G	VPS37A_ENST00000521829.1_Missense_Mutation_p.E329G	NM_001145152.1|NM_152415.2	NP_001138624.1|NP_689628.2	Q8NEZ2	VP37A_HUMAN	vacuolar protein sorting 37 homolog A (S. cerevisiae)	354	VPS37 C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00646}.				cell death (GO:0008219)|endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|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)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	10				Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212)		GACTTCTTGGAGGGAAAGATG	0.393																																																0													108	109	108					8																	17142073		2203	4300	6503	SO:0001583	missense	137492				CCDS6001.1, CCDS47811.1	8p22	2012-06-29	2006-04-04		ENSG00000155975	ENSG00000155975			24928	protein-coding gene	gene with protein product	"hepatocellular carcinoma related protein 1"	609927	"vacuolar protein sorting 37A (yeast)", "polyglutamine binding protein 2"	PQBP2		15240819, 15218037, 22717650	Standard	NM_152415		Approved	FLJ32642, HCRP1, SPG53	uc003wxj.3	Q8NEZ2	OTTHUMG00000130785	ENST00000324849.4:c.1061A>G	chr8.hg19:g.17142073A>G	ENSP00000318629:p.Glu354Gly		Q336D5|Q6NW27|Q8N3D7|Q8TBL7|Q96DL9	Missense_Mutation	SNP	ENST00000324849.4	hg19	CCDS6001.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.307807	0.81247	.	.	ENSG00000155975	ENST00000324849;ENST00000521829;ENST00000521976	T;T;T	0.78707	-1.2;-1.2;-1.2	5.31	5.31	0.75309	Modifier of rudimentary, Modr (2);	0.000000	0.85682	D	0.000000	D	0.84593	0.5506	L	0.55834	1.745	0.80722	D	1	D;D;D	0.76494	0.99;0.997;0.999	D;D;D	0.78314	0.921;0.954;0.991	T	0.82313	-0.0519	10	0.27785	T	0.31	-11.7351	15.9692	0.79998	1.0:0.0:0.0:0.0	.	125;329;354	B3KW95;Q8NEZ2-2;Q8NEZ2	.;.;VP37A_HUMAN	G	354;329;127	ENSP00000318629:E354G;ENSP00000429680:E329G;ENSP00000429858:E127G	ENSP00000318629:E354G	E	+	2	0	VPS37A	17186444	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	8.962000	0.93254	2.302000	0.77476	0.533000	0.62120	GAG		0.393	VPS37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253301.2	NM_152415		G	17142073	A	G	17142073	3	3	789	1	0	0	0	0	1	0	0	0	17210	304	11	3	1099	3	VPS37A	8	17142073	Missense_Mutation	SNP	A	TCGA-SX-A7SM-01A-11D-A34Z-10		17142073	129221949	32	46889											
KIF13B	23303	hgsc.bcm.edu	37	8	28980929	28980929	+	Missense_Mutation	SNP	T	T	G			TCGA-SX-A7SM-01A-11D-A34Z-10	TCGA-SX-A7SM-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6a336f0-67fb-4b2b-b9fd-c5a0fb5d699e	bab99f69-b881-4371-88d4-ffdd35a761fd	g.chr8:28980929T>G	ENST00000524189.1	-	28	3471	c.3433A>C	c.(3433-3435)Atg>Ctg	p.M1145L	CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1145					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)		GAGGGGACCATCACCGCGTTC	0.552																																																0													99	100	100					8																	28980929		1965	4150	6115	SO:0001583	missense	23303			AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"Kinesins"	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.3433A>C	chr8.hg19:g.28980929T>G	ENSP00000427900:p.Met1145Leu		B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Missense_Mutation	SNP	ENST00000524189.1	hg19	CCDS55217.1	.	.	.	.	.	.	.	.	.	.	T	3.369	-0.128796	0.06753	.	.	ENSG00000197892	ENST00000524189	T	0.73047	-0.71	4.63	4.63	0.57726	.	0.038546	0.85682	D	0.000000	T	0.41396	0.1157	N	0.02225	-0.63	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.46665	-0.9175	10	0.02654	T	1	.	14.2118	0.65769	0.0:0.0:0.0:1.0	.	1145	F8VPJ2	.	L	1145	ENSP00000427900:M1145L	ENSP00000427900:M1145L	M	-	1	0	KIF13B	29036848	0.991000	0.36638	0.896000	0.35187	0.838000	0.47535	2.211000	0.42825	1.929000	0.55896	0.533000	0.62120	ATG		0.552	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1			G	28980929	T	G	28980929	3	3	789	1	0	0	0	0	1	0	0	0	8277	1435	50	5	2099	5	KIF13B	8	28980929	Missense_Mutation	SNP	T	TCGA-SX-A7SM-01A-11D-A34Z-10	11838856	28980929	117383093	33	46890											
PHF20L1	51105	hgsc.bcm.edu	37	8	133851799	133851799	+	Frame_Shift_Del	DEL	G	G	-			TCGA-SX-A7SM-01A-11D-A34Z-10	TCGA-SX-A7SM-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6a336f0-67fb-4b2b-b9fd-c5a0fb5d699e	bab99f69-b881-4371-88d4-ffdd35a761fd	g.chr8:133851799delG	ENST00000395386.2	+	18	2658	c.2359delG	c.(2359-2361)gggfs	p.G787fs	PHF20L1_ENST00000220847.7_Frame_Shift_Del_p.G174fs|AF230666.2_ENST00000608375.1_RNA|PHF20L1_ENST00000395390.2_Frame_Shift_Del_p.G762fs|AF230666.2_ENST00000429151.1_RNA	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	787							zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			AGTGCTACACGGGCTACAGCT	0.403																																																0													106	96	99					8																	133851799		1892	4120	6012	SO:0001589	frameshift_variant	51105			AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"Tudor domain containing", "Zinc fingers, PHD-type"	24280	protein-coding gene	gene with protein product	"tudor domain containing 20B"					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.2359delG	chr8.hg19:g.133851799delG	ENSP00000378784:p.Gly787fs		A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Frame_Shift_Del	DEL	ENST00000395386.2	hg19	CCDS6367.2																																																																																				0.403	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3	NM_016018		-	133851799	G	-	133851799	7	5	789	1	0	1	0	1	0	0	0	0	11834	1116	39	0	2521	0	PHF20L1	8	133851799	Frame_Shift_Del	DEL	G	TCGA-SX-A7SM-01A-11D-A34Z-10	104870870	133851799	12512223	34	46891											
VPS13A	23230	hgsc.bcm.edu	37	9	79955390	79955390	+	Frame_Shift_Del	DEL	T	T	-	rs370606167		TCGA-SX-A7SM-01A-11D-A34Z-10	TCGA-SX-A7SM-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6a336f0-67fb-4b2b-b9fd-c5a0fb5d699e	bab99f69-b881-4371-88d4-ffdd35a761fd	g.chr9:79955390delT	ENST00000360280.3	+	50	7210	c.6950delT	c.(6949-6951)attfs	p.I2317fs	VPS13A_ENST00000376634.4_Frame_Shift_Del_p.I2317fs|VPS13A_ENST00000376636.3_Frame_Shift_Del_p.I2278fs|VPS13A_ENST00000357409.5_Frame_Shift_Del_p.I2317fs	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2317					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						TTTTATATGATTAAAAACAAA	0.323																																																0													77	81	80					9																	79955390		2203	4296	6499	SO:0001589	frameshift_variant	23230			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"chorein"	605978	"chorea acanthocytosis", "vacuolar protein sorting 13A (yeast)"	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.6950delT	chr9.hg19:g.79955390delT	ENSP00000353422:p.Ile2317fs		Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Frame_Shift_Del	DEL	ENST00000360280.3	hg19	CCDS6655.1																																																																																				0.323	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		-	79955390	T	-	79955390	7	5	789	1	0	1	0	1	0	0	0	0	17194	1493	52	0	7148	0	VPS13A	9	79955390	Frame_Shift_Del	DEL	T	TCGA-SX-A7SM-01A-11D-A34Z-10		79955390	61258041	35	46892											
C9orf5	23731	hgsc.bcm.edu	37	9	111819564	111819564	+	Silent	SNP	C	C	T	rs201566707		TCGA-SX-A7SM-01A-11D-A34Z-10	TCGA-SX-A7SM-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6a336f0-67fb-4b2b-b9fd-c5a0fb5d699e	bab99f69-b881-4371-88d4-ffdd35a761fd	g.chr9:111819564C>T	ENST00000374586.3	-	12	1792	c.1761G>A	c.(1759-1761)ttG>ttA	p.L587L		NM_032012.3	NP_114401.2	Q9H330	TM245_HUMAN	transmembrane protein 245	587						integral component of membrane (GO:0016021)											GACTGACATGCAACTTCTGTC	0.398																																																0													81	78	79					9																	111819564		1899	4129	6028	SO:0001819	synonymous_variant	23731			AF153415	CCDS43858.1	9q31	2012-03-06	2012-03-06	2012-03-06	ENSG00000106771	ENSG00000106771			1363	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 5"	C9orf5		10564813	Standard	NM_032012		Approved	CG-2	uc004bdt.4	Q9H330	OTTHUMG00000020469	ENST00000374586.3:c.1761G>A	chr9.hg19:g.111819564C>T			B4DSW7|Q5JTQ5|Q5SS43|Q6ZME3|Q8NDJ5|Q96CG6	Silent	SNP	ENST00000374586.3	hg19	CCDS43858.1	.	.	.	.	.	.	.	.	.	.	C	8.570	0.879929	0.17467	.	.	ENSG00000106771	ENST00000413712	.	.	.	5.47	4.56	0.56223	.	.	.	.	.	T	0.70753	0.3260	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70197	-0.4938	4	.	.	.	-9.3841	15.3007	0.73949	0.0:0.735:0.265:0.0	.	.	.	.	T	180	.	.	A	-	1	0	C9orf5	110859385	1.000000	0.71417	0.998000	0.56505	0.845000	0.48019	1.986000	0.40677	1.272000	0.44329	0.655000	0.94253	GCA		0.398	TMEM245-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053587.2	NM_032012		T	111819564	C	T	111819564	2	4	789	1	0	0	0	0	0	0	0	1	2488	709	25	2		2	C9orf5	9	111819564	Silent	SNP	C	TCGA-SX-A7SM-01A-11D-A34Z-10	31864174	111819564	29393867	36	46893											
USP20	10868	hgsc.bcm.edu	37	9	132638511	132638511	+	Silent	SNP	C	C	T			TCGA-SX-A7SM-01A-11D-A34Z-10	TCGA-SX-A7SM-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6a336f0-67fb-4b2b-b9fd-c5a0fb5d699e	bab99f69-b881-4371-88d4-ffdd35a761fd	g.chr9:132638511C>T	ENST00000315480.4	+	22	2561	c.2403C>T	c.(2401-2403)ttC>ttT	p.F801F	USP20_ENST00000358355.1_Silent_p.F801F|USP20_ENST00000372429.3_Silent_p.F801F			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	801	DUSP 2. {ECO:0000255|PROSITE- ProRule:PRU00613}.				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)				TCGACACCTTCATCAAGGTGC	0.667																																																0													23	25	24					9																	132638511		2073	4199	6272	SO:0001819	synonymous_variant	10868			AB023220	CCDS43892.1	9q34.2	2014-07-15	2005-08-08		ENSG00000136878	ENSG00000136878		"Ubiquitin-specific peptidases"	12619	protein-coding gene	gene with protein product		615143	"ubiquitin specific protease 20"			12838346	Standard	NM_006676		Approved	KIAA1003	uc004byr.3	Q9Y2K6	OTTHUMG00000020793	ENST00000315480.4:c.2403C>T	chr9.hg19:g.132638511C>T			Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	Silent	SNP	ENST00000315480.4	hg19	CCDS43892.1																																																																																				0.667	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054604.2			T	132638511	C	T	132638511	2	4	789	1	0	0	0	0	0	0	0	1	17057	825	29	2		2	USP20	9	132638511	Silent	SNP	C	TCGA-SX-A7SM-01A-11D-A34Z-10	20818947	132638511	8574920	37	46894											
TUBAL3	79861	hgsc.bcm.edu	37	10	5443030	5443030	+	Missense_Mutation	SNP	G	G	T			TCGA-SX-A7SM-01A-11D-A34Z-10	TCGA-SX-A7SM-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6a336f0-67fb-4b2b-b9fd-c5a0fb5d699e	bab99f69-b881-4371-88d4-ffdd35a761fd	g.chr10:5443030G>T	ENST00000380419.3	-	2	61	c.24C>A	c.(22-24)caC>caA	p.H8Q	TUBAL3_ENST00000479328.1_Intron	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	8					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						CTTGACCGATGTGGATGGAAA	0.488																																																0													89	85	86					10																	5443030		2203	4300	6503	SO:0001583	missense	79861			AK025318	CCDS7066.2, CCDS53491.1	10p15.1	2007-03-15			ENSG00000178462	ENSG00000178462		"Tubulins"	23534	protein-coding gene	gene with protein product							Standard	NM_024803		Approved	FLJ21665	uc001ihy.3	A6NHL2	OTTHUMG00000017595	ENST00000380419.3:c.24C>A	chr10.hg19:g.5443030G>T	ENSP00000369784:p.His8Gln		B4DKL2|Q4QQJ5|Q9H6Z0	Missense_Mutation	SNP	ENST00000380419.3	hg19	CCDS7066.2	.	.	.	.	.	.	.	.	.	.	G	12.39	1.922227	0.33908	.	.	ENSG00000178462	ENST00000380419	T	0.63255	-0.03	4.06	2.19	0.27852	Tubulin/FtsZ, GTPase domain (3);	0.168717	0.28647	N	0.014618	T	0.60274	0.2256	N	0.16833	0.445	0.80722	D	1	D	0.67145	0.996	D	0.75484	0.986	T	0.60616	-0.7228	10	0.87932	D	0	.	7.209	0.25923	0.2913:0.0:0.7087:0.0	.	8	A6NHL2	TBAL3_HUMAN	Q	8	ENSP00000369784:H8Q	ENSP00000369784:H8Q	H	-	3	2	TUBAL3	5433030	0.810000	0.29049	0.715000	0.30552	0.060000	0.15804	0.327000	0.19663	0.449000	0.26747	-0.136000	0.14681	CAC		0.488	TUBAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046548.2	NM_024803		T	5443030	G	T	5443030	3	4	789	1	0	0	0	0	1	0	0	0	16756	1368	48	4	1328	4	TUBAL3	10	5443030	Missense_Mutation	SNP	G	TCGA-SX-A7SM-01A-11D-A34Z-10		5443030	130091717	38	46895											
KIAA1274	27143	hgsc.bcm.edu	37	10	72324203	72324203	+	Missense_Mutation	SNP	T	T	G			TCGA-SX-A7SM-01A-11D-A34Z-10	TCGA-SX-A7SM-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6a336f0-67fb-4b2b-b9fd-c5a0fb5d699e	bab99f69-b881-4371-88d4-ffdd35a761fd	g.chr10:72324203T>G	ENST00000263563.6	+	19	2614	c.2346T>G	c.(2344-2346)atT>atG	p.I782M		NM_014431.2	NP_055246.2	Q9ULE6	PALD_HUMAN	phosphatase domain containing, paladin 1	782						cytosol (GO:0005829)											TCTGCCTGATTCTCTTCAACG	0.632																																																0													122	117	119					10																	72324203		2203	4300	6503	SO:0001583	missense	27143			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.2346T>G	chr10.hg19:g.72324203T>G	ENSP00000263563:p.Ile782Met		B2RMS1|B9EGC6|Q5JTK7|Q5JTK8	Missense_Mutation	SNP	ENST00000263563.6	hg19	CCDS31215.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.20|15.20	2.763695|2.763695	0.49574|0.49574	.|.	.|.	ENSG00000107719|ENSG00000107719	ENST00000263563;ENST00000373214|ENST00000426268	T|.	0.29917|.	1.55|.	5.12|5.12	-1.85|-1.85	0.07784|0.07784	.|.	0.120287|.	0.56097|.	D|.	0.000040|.	T|T	0.67571|0.67571	0.2907|0.2907	M|M	0.79011|0.79011	2.435|2.435	0.49798|0.49798	D|D	0.999823|0.999823	P|.	0.52463|.	0.953|.	D|.	0.63597|.	0.916|.	T|T	0.65776|0.65776	-0.6086|-0.6086	10|5	0.87932|.	D|.	0|.	-9.6058|-9.6058	7.9563|7.9563	0.30045|0.30045	0.0:0.5989:0.151:0.2501|0.0:0.5989:0.151:0.2501	.|.	782|.	Q9ULE6|.	PALD_HUMAN|.	M|A	782;758|163	ENSP00000263563:I782M|.	ENSP00000263563:I782M|.	I|S	+|+	3|1	3|0	KIAA1274|KIAA1274	71994209|71994209	0.997000|0.997000	0.39634|0.39634	0.994000|0.994000	0.49952|0.49952	0.268000|0.268000	0.26511|0.26511	0.541000|0.541000	0.23207|0.23207	-0.223000|-0.223000	0.09943|0.09943	-0.425000|-0.425000	0.05940|0.05940	ATT|TCT		0.632	PALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048515.2	NM_014431		G	72324203	T	G	72324203	3	3	789	1	0	0	0	0	1	0	0	0	8222	1771	62	5	2416	5	KIAA1274	10	72324203	Missense_Mutation	SNP	T	TCGA-SX-A7SM-01A-11D-A34Z-10	66881173	72324203	63210544	39	46896											
MYST4	23522	hgsc.bcm.edu	37	10	76788653	76788653	+	Silent	SNP	G	G	A			TCGA-SX-A7SM-01A-11D-A34Z-10	TCGA-SX-A7SM-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6a336f0-67fb-4b2b-b9fd-c5a0fb5d699e	bab99f69-b881-4371-88d4-ffdd35a761fd	g.chr10:76788653G>A	ENST00000287239.4	+	18	4560	c.4071G>A	c.(4069-4071)gaG>gaA	p.E1357E	KAT6B_ENST00000372725.1_Silent_p.E1065E|KAT6B_ENST00000372711.1_Silent_p.E1174E|KAT6B_ENST00000372724.1_Silent_p.E1065E|KAT6B_ENST00000372714.1_Silent_p.E1065E	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1357	Poly-Glu.				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)										aagaggaggaggaggaggaag	0.453																																																0													41	42	41					10																	76788653		2203	4300	6503	SO:0001819	synonymous_variant	23522			AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	17582	protein-coding gene	gene with protein product	"MOZ-related factor"	605880	"MYST histone acetyltransferase (monocytic leukemia) 4"	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.4071G>A	chr10.hg19:g.76788653G>A			O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Silent	SNP	ENST00000287239.4	hg19	CCDS7345.1																																																																																				0.453	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		A	76788653	G	A	76788653	2	1	789	1	0	0	0	0	0	0	0	1	10107	991	35	2		2	MYST4	10	76788653	Silent	SNP	G	TCGA-SX-A7SM-01A-11D-A34Z-10	4464450	76788653	58746094	40	46897											
KIF20B	9585	hgsc.bcm.edu	37	10	91479191	91479191	+	Missense_Mutation	SNP	A	A	T			TCGA-SX-A7SM-01A-11D-A34Z-10	TCGA-SX-A7SM-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6a336f0-67fb-4b2b-b9fd-c5a0fb5d699e	bab99f69-b881-4371-88d4-ffdd35a761fd	g.chr10:91479191A>T	ENST00000371728.3	+	13	1515	c.1450A>T	c.(1450-1452)Act>Tct	p.T484S	KIF20B_ENST00000260753.4_Missense_Mutation_p.T484S|KIF20B_ENST00000394289.2_Missense_Mutation_p.T484S|KIF20B_ENST00000416354.1_Missense_Mutation_p.T484S	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	484					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						TGTCCCAGACACTTTAAATTC	0.279																																																0													35	39	38					10																	91479191		2153	4287	6440	SO:0001583	missense	9585			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.1450A>T	chr10.hg19:g.91479191A>T	ENSP00000360793:p.Thr484Ser		A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	ENST00000371728.3	hg19		.	.	.	.	.	.	.	.	.	.	A	7.315	0.615724	0.14129	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728	T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65	5.63	1.83	0.25207	Kinesin, motor domain (1);	0.370049	0.23367	N	0.048955	T	0.47581	0.1453	L	0.28274	0.84	0.09310	N	1	B;B	0.11235	0.002;0.004	B;B	0.13407	0.006;0.009	T	0.13202	-1.0518	10	0.19590	T	0.45	-0.0742	1.5376	0.02548	0.5113:0.1337:0.2256:0.1293	.	484;484	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	S	484	ENSP00000260753:T484S;ENSP00000411545:T484S;ENSP00000377830:T484S;ENSP00000360793:T484S	ENSP00000260753:T484S	T	+	1	0	KIF20B	91469171	0.000000	0.05858	0.478000	0.27316	0.794000	0.44872	-0.552000	0.06020	0.421000	0.25980	0.377000	0.23210	ACT		0.279	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195		T	91479191	A	T	91479191	3	4	789	1	0	0	0	0	1	0	0	0	8289	159	6	5	1496	5	KIF20B	10	91479191	Missense_Mutation	SNP	A	TCGA-SX-A7SM-01A-11D-A34Z-10	14690538	91479191	44055556	41	46898											
CD151	977	hgsc.bcm.edu	37	11	836827	836827	+	Missense_Mutation	SNP	A	A	G			TCGA-SX-A7SM-01A-11D-A34Z-10	TCGA-SX-A7SM-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6a336f0-67fb-4b2b-b9fd-c5a0fb5d699e	bab99f69-b881-4371-88d4-ffdd35a761fd	g.chr11:836827A>G	ENST00000397420.3	+	5	584	c.335A>G	c.(334-336)tAc>tGc	p.Y112C	CD151_ENST00000397421.1_Missense_Mutation_p.Y112C|CD151_ENST00000528011.1_Missense_Mutation_p.Y112C|CD151_ENST00000322008.4_Missense_Mutation_p.Y112C			P48509	CD151_HUMAN	CD151 molecule (Raph blood group)	112					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)		ATCCTCGCCTACGCCTACTAC	0.607																																					Esophageal Squamous(14;501 559 15826 37823 38305)											0													72	60	64					11																	836827		2198	4294	6492	SO:0001583	missense	977			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.335A>G	chr11.hg19:g.836827A>G	ENSP00000380565:p.Tyr112Cys		A8KAK8|E9PI15|Q14826|Q86U54|Q96TE3	Missense_Mutation	SNP	ENST00000397420.3	hg19	CCDS7719.1	.	.	.	.	.	.	.	.	.	.	A	15.50	2.852392	0.51270	.	.	ENSG00000177697	ENST00000397420;ENST00000322008;ENST00000397421;ENST00000526693;ENST00000524748;ENST00000527341;ENST00000530320;ENST00000528011	D;D;D;D;D;D;D;D	0.89939	-2.59;-2.59;-2.59;-2.59;-2.59;-2.59;-2.59;-2.59	4.74	4.74	0.60224	Tetraspanin, EC2 domain (1);	0.000000	0.85682	D	0.000000	D	0.95472	0.8529	M	0.92784	3.345	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.96508	0.9376	10	0.87932	D	0	.	14.3849	0.66938	1.0:0.0:0.0:0.0	.	112	P48509	CD151_HUMAN	C	112	ENSP00000380565:Y112C;ENSP00000324101:Y112C;ENSP00000380566:Y112C;ENSP00000435054:Y112C;ENSP00000431403:Y112C;ENSP00000436591:Y112C;ENSP00000433787:Y112C;ENSP00000432990:Y112C	ENSP00000324101:Y112C	Y	+	2	0	CD151	826827	1.000000	0.71417	0.982000	0.44146	0.092000	0.18411	6.692000	0.74578	1.992000	0.58205	0.459000	0.35465	TAC		0.607	CD151-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257108.1	NM_004357		G	836827	A	G	836827	3	3	789	1	0	0	0	0	1	0	0	0	2967	391	14	3	345	3	CD151	11	836827	Missense_Mutation	SNP	A	TCGA-SX-A7SM-01A-11D-A34Z-10		836827	134169689	42	46899											
ARFIP2	23647	hgsc.bcm.edu	37	11	6500088	6500088	+	Missense_Mutation	SNP	C	C	A			TCGA-SX-A7SM-01A-11D-A34Z-10	TCGA-SX-A7SM-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6a336f0-67fb-4b2b-b9fd-c5a0fb5d699e	bab99f69-b881-4371-88d4-ffdd35a761fd	g.chr11:6500088C>A	ENST00000254584.2	-	5	500	c.417G>T	c.(415-417)aaG>aaT	p.K139N	ARFIP2_ENST00000423813.2_Missense_Mutation_p.K101N|ARFIP2_ENST00000396777.3_Missense_Mutation_p.K139N|TIMM10B_ENST00000472836.1_5'Flank|ARFIP2_ENST00000445086.2_Missense_Mutation_p.K54N|TIMM10B_ENST00000530751.1_5'Flank|TIMM10B_ENST00000254616.6_5'Flank|ARFIP2_ENST00000525235.1_Missense_Mutation_p.K139N	NM_012402.3	NP_036534.1	P53365	ARFP2_HUMAN	ADP-ribosylation factor interacting protein 2	139	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.				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)		CACTCTCATACTTGCGCTTCG	0.577																																					Melanoma(119;796 1674 9049 20480 24794)											0													84	60	68					11																	6500088		2201	4296	6497	SO:0001583	missense	23647			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.417G>T	chr11.hg19:g.6500088C>A	ENSP00000254584:p.Lys139Asn		B4DX86|B4E306|D3DQT5	Missense_Mutation	SNP	ENST00000254584.2	hg19	CCDS7765.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.163707	0.57476	.	.	ENSG00000132254	ENST00000254584;ENST00000396777;ENST00000445086;ENST00000423813;ENST00000525235	T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13	5.67	3.81	0.43845	Arfaptin-like (3);	0.000000	0.85682	D	0.000000	D	0.86834	0.6028	M	0.79693	2.465	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.995;0.999	D	0.87256	0.2276	10	0.52906	T	0.07	.	11.391	0.49815	0.0:0.8534:0.0:0.1466	.	172;54;139	B4DUZ3;B4E306;P53365	.;.;ARFP2_HUMAN	N	139;139;54;101;139	ENSP00000254584:K139N;ENSP00000379998:K139N;ENSP00000391427:K54N;ENSP00000398375:K101N;ENSP00000434124:K139N	ENSP00000254584:K139N	K	-	3	2	ARFIP2	6456664	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.141000	0.42168	1.408000	0.46895	0.561000	0.74099	AAG		0.577	ARFIP2-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387044.1	NM_012402		A	6500088	C	A	6500088	3	1	789	1	0	0	0	0	1	0	0	0	855	564	20	4	624	4	ARFIP2	11	6500088	Missense_Mutation	SNP	C	TCGA-SX-A7SM-01A-11D-A34Z-10	5663261	6500088	128506428	43	46900											
SIK3	23387	hgsc.bcm.edu	37	11	116729011	116729011	+	Missense_Mutation	SNP	T	T	C	rs537893827	byFrequency	TCGA-SX-A7SM-01A-11D-A34Z-10	TCGA-SX-A7SM-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6a336f0-67fb-4b2b-b9fd-c5a0fb5d699e	bab99f69-b881-4371-88d4-ffdd35a761fd	g.chr11:116729011T>C	ENST00000292055.4	-	20	2887	c.2852A>G	c.(2851-2853)cAg>cGg	p.Q951R	SIK3_ENST00000542607.1_Missense_Mutation_p.Q891R|SIK3_ENST00000446921.2_Missense_Mutation_p.Q949R|SIK3_ENST00000434315.2_Missense_Mutation_p.Q790R|AP006216.12_ENST00000444200.1_RNA|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000375288.1_Missense_Mutation_p.Q286R|SIK3_ENST00000375300.1_Missense_Mutation_p.Q1009R	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	951	Gln-rich.				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						ctgttgctgctgttgctgctg	0.592																																																0													40	39	39					11																	116729011		2201	4296	6497	SO:0001583	missense	23387			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.2852A>G	chr11.hg19:g.116729011T>C	ENSP00000292055:p.Gln951Arg		A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Missense_Mutation	SNP	ENST00000292055.4	hg19	CCDS8379.1	.	.	.	.	.	.	.	.	.	.	T	8.339	0.828231	0.16749	.	.	ENSG00000160584	ENST00000375300;ENST00000292055;ENST00000375288;ENST00000542607;ENST00000434315	T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56	5.22	2.87	0.33458	.	0.213574	0.23076	U	0.052215	T	0.16257	0.0391	N	0.12182	0.205	0.44168	D	0.996977	B;B;B;B;B	0.11235	0.004;0.001;0.0;0.001;0.0	B;B;B;B;B	0.10450	0.005;0.001;0.001;0.002;0.002	T	0.05053	-1.0909	10	0.72032	D	0.01	.	6.9418	0.24496	0.0:0.1912:0.0:0.8088	.	951;891;790;951;286	Q9Y2K2-3;A1A5A8;A1A5A9;Q9Y2K2;Q9Y2K2-2	.;.;.;SIK3_HUMAN;.	R	1009;951;286;891;790	ENSP00000364449:Q1009R;ENSP00000292055:Q951R;ENSP00000364437:Q286R;ENSP00000438108:Q891R;ENSP00000415873:Q790R	ENSP00000292055:Q951R	Q	-	2	0	SIK3	116234221	1.000000	0.71417	0.995000	0.50966	0.191000	0.23601	3.827000	0.55745	0.821000	0.34540	0.533000	0.62120	CAG		0.592	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164		C	116729011	T	C	116729011	3	2	789	1	0	0	0	0	1	0	0	0	14325	1580	55	3	955	3	SIK3	11	116729011	Missense_Mutation	SNP	T	TCGA-SX-A7SM-01A-11D-A34Z-10	110228923	116729011	18277505	44	46901											
PLEKHA5	54477	hgsc.bcm.edu	37	12	19408098	19408100	+	Splice_Site	DEL	GAG	GAG	-			TCGA-SX-A7SM-01A-11D-A34Z-10	TCGA-SX-A7SM-10A-01D-A34Z-10	GAG	GAG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6a336f0-67fb-4b2b-b9fd-c5a0fb5d699e	bab99f69-b881-4371-88d4-ffdd35a761fd	g.chr12:19408098_19408100delGAG	ENST00000299275.6	+	5	437_438	c.431_432delGAG	c.(430-432)aga>a	p.R144del	PLEKHA5_ENST00000543806.1_Splice_Site_p.R36del|PLEKHA5_ENST00000538714.1_Splice_Site_p.R144del|PLEKHA5_ENST00000539256.1_5'UTR|PLEKHA5_ENST00000359180.3_Splice_Site_p.R144del|PLEKHA5_ENST00000309364.4_Splice_Site_p.R144del|PLEKHA5_ENST00000424268.1_Splice_Site_p.R36del|PLEKHA5_ENST00000429027.2_Splice_Site_p.R144del|PLEKHA5_ENST00000317589.4_Splice_Site_p.R144del|PLEKHA5_ENST00000355397.3_Splice_Site_p.R144del	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	144					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)					CCTGTAGGCAGAGTAAGTTATTT	0.31																																					Pancreas(196;329 2193 11246 14234 19524)											0																																										SO:0001630	splice_region_variant	54477			AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"Pleckstrin homology (PH) domain containing"	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.432+1GAG>-	chr12.hg19:g.19408098_19408100delGAG			A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	In_Frame_Del	DEL	ENST00000299275.6	hg19	CCDS8682.1																																																																																				0.31	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397013.1	NM_019012	In_Frame_Del	-	19408100	GAG	-	19408098	8	5	789	1	0	1	0	1	0	0	1	0	12061	956	33	0	449	0	PLEKHA5	12	19408098	Splice_Site	DEL	GAG	TCGA-SX-A7SM-01A-11D-A34Z-10		19408098	114443797	45	46902											
ARID2	196528	hgsc.bcm.edu	37	12	46244757	46244758	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-SX-A7SM-01A-11D-A34Z-10	TCGA-SX-A7SM-10A-01D-A34Z-10	CC	CC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6a336f0-67fb-4b2b-b9fd-c5a0fb5d699e	bab99f69-b881-4371-88d4-ffdd35a761fd	g.chr12:46244757_46244758delCC	ENST00000334344.6	+	15	3023_3024	c.2851_2852delCC	c.(2851-2853)ccafs	p.P951fs	ARID2_ENST00000444670.1_Frame_Shift_Del_p.P561fs|ARID2_ENST00000457135.1_5'Flank|ARID2_ENST00000422737.1_Frame_Shift_Del_p.P802fs|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	951	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)		TCTTGCTAATCCAGCAGCTCTT	0.47			"N, S, F"		hepatocellular carcinoma																																		Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	0																																										SO:0001589	frameshift_variant	196528				CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"-"	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.2851_2852delCC	chr12.hg19:g.46244757_46244758delCC	ENSP00000335044:p.Pro951fs		Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Frame_Shift_Del	DEL	ENST00000334344.6	hg19	CCDS31783.1																																																																																				0.47	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		-	46244758	CC	-	46244757	7	5	789	1	0	1	0	1	0	0	0	0	915	855	30	0	2909	0	ARID2	12	46244757	Frame_Shift_Del	DEL	CC	TCGA-SX-A7SM-01A-11D-A34Z-10	26836659	46244757	87607138	46	46903											
PRPF40B	25766	hgsc.bcm.edu	37	12	50025231	50025231	+	Silent	SNP	C	C	G			TCGA-SX-A7SM-01A-11D-A34Z-10	TCGA-SX-A7SM-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6a336f0-67fb-4b2b-b9fd-c5a0fb5d699e	bab99f69-b881-4371-88d4-ffdd35a761fd	g.chr12:50025231C>G	ENST00000380281.1	+	2	130	c.66C>G	c.(64-66)ccC>ccG	p.P22P	PRPF40B_ENST00000548825.2_Silent_p.P44P|PRPF40B_ENST00000261897.1_Silent_p.P16P			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	22	Pro-rich.				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						TGGGGCTACCCCCCATGAGTC	0.597																																																0													100	102	101					12																	50025231		2203	4300	6503	SO:0001819	synonymous_variant	25766			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.66C>G	chr12.hg19:g.50025231C>G			O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Silent	SNP	ENST00000380281.1	hg19																																																																																					0.597	PRPF40B-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000404838.1	NM_012272		G	50025231	C	G	50025231	2	3	789	1	0	0	0	0	0	0	0	1	12577	610	22	4		4	PRPF40B	12	50025231	Silent	SNP	C	TCGA-SX-A7SM-01A-11D-A34Z-10	3780474	50025231	83826664	47	46904											
UNG	7374	hgsc.bcm.edu	37	12	109536367	109536367	+	Missense_Mutation	SNP	G	G	A			TCGA-SX-A7SM-01A-11D-A34Z-10	TCGA-SX-A7SM-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6a336f0-67fb-4b2b-b9fd-c5a0fb5d699e	bab99f69-b881-4371-88d4-ffdd35a761fd	g.chr12:109536367G>A	ENST00000242576.2	+	2	369	c.263G>A	c.(262-264)cGc>cAc	p.R88H	UNG_ENST00000336865.2_Missense_Mutation_p.R79H	NM_080911.2	NP_550433.1			uracil-DNA glycosylase											central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						CTCGCGGCCCGCAACGTGCCC	0.617								Base excision repair (BER), DNA glycosylases	Immune Deficiency with Hyper-IgM																																							0													39	46	44					12																	109536367		2202	4287	6489	SO:0001583	missense	7374	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	A64377	CCDS9124.1, CCDS9125.1	12q23-q24.1	2014-09-17			ENSG00000076248	ENSG00000076248	3.2.2.27		12572	protein-coding gene	gene with protein product	"uracil-DNA glycosylase 1, uracil-DNA glycosylase 2"	191525		DGU		1923798, 17101234	Standard	NM_080911		Approved	UDG, UNG1, UNG2, HIGM4	uc001tnz.2	P13051	OTTHUMG00000169247	ENST00000242576.2:c.263G>A	chr12.hg19:g.109536367G>A	ENSP00000242576:p.Arg88His			Missense_Mutation	SNP	ENST00000242576.2	hg19	CCDS9124.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.776487	0.90195	.	.	ENSG00000076248	ENST00000242576;ENST00000336865;ENST00000537518	T;T	0.77750	-0.11;-1.12	4.21	4.21	0.49690	.	0.201019	0.43919	D	0.000502	T	0.80576	0.4649	M	0.64404	1.975	0.49213	D	0.999761	D;D	0.61697	0.99;0.987	P;P	0.49999	0.628;0.467	D	0.84208	0.0454	10	0.87932	D	0	-18.7494	15.3137	0.74056	0.0:0.0:1.0:0.0	.	79;88	E5KTA6;P13051	.;UNG_HUMAN	H	88;79;45	ENSP00000242576:R88H;ENSP00000337398:R79H	ENSP00000242576:R88H	R	+	2	0	UNG	108020750	1.000000	0.71417	0.998000	0.56505	0.938000	0.57974	3.714000	0.54889	2.182000	0.69389	0.455000	0.32223	CGC		0.617	UNG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403067.1	NM_080911		A	109536367	G	A	109536367	3	1	789	1	0	0	0	0	1	0	0	0	17004	1087	38	1	374	1	UNG	12	109536367	Missense_Mutation	SNP	G	TCGA-SX-A7SM-01A-11D-A34Z-10	59511136	109536367	24315528	48	46905											
C12orf51	283450	hgsc.bcm.edu	37	12	112622150	112622150	+	Silent	SNP	C	C	G			TCGA-SX-A7SM-01A-11D-A34Z-10	TCGA-SX-A7SM-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6a336f0-67fb-4b2b-b9fd-c5a0fb5d699e	bab99f69-b881-4371-88d4-ffdd35a761fd	g.chr12:112622150C>G	ENST00000430131.2	-	60	10499	c.9354G>C	c.(9352-9354)ctG>ctC	p.L3118L	HECTD4_ENST00000550722.1_Silent_p.L3394L|HECTD4_ENST00000377560.5_Silent_p.L3368L			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3118					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)										cGGTGCTGCACAGGGAAATGT	0.672																																																0													20	26	24					12																	112622150		1997	4171	6168	SO:0001819	synonymous_variant	283450			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.9354G>C	chr12.hg19:g.112622150C>G			L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	hg19																																																																																					0.672	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		G	112622150	C	G	112622150	2	3	789	1	0	0	0	0	0	0	0	1	1698	465	17	4		4	C12orf51	12	112622150	Silent	SNP	C	TCGA-SX-A7SM-01A-11D-A34Z-10	3085783	112622150	21229745	49	46906											
RILPL1	353116	hgsc.bcm.edu	37	12	124017929	124017929	+	Missense_Mutation	SNP	A	A	G			TCGA-SX-A7SM-01A-11D-A34Z-10	TCGA-SX-A7SM-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6a336f0-67fb-4b2b-b9fd-c5a0fb5d699e	bab99f69-b881-4371-88d4-ffdd35a761fd	g.chr12:124017929A>G	ENST00000376874.4	-	1	336	c.101T>C	c.(100-102)gTg>gCg	p.V34A		NM_178314.3	NP_847884.2	Q5EBL4	RIPL1_HUMAN	Rab interacting lysosomal protein-like 1	34					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)		CTCGTGGCCCACAAGCGACGC	0.677																																																0													8	11	10					12																	124017929		2117	4182	6299	SO:0001583	missense	353116			AK097550	CCDS45006.1	12q24.31	2007-11-27			ENSG00000188026	ENSG00000188026			26814	protein-coding gene	gene with protein product		614092				14668488	Standard	NM_178314		Approved	FLJ39378	uc001ufe.2	Q5EBL4	OTTHUMG00000168686	ENST00000376874.4:c.101T>C	chr12.hg19:g.124017929A>G	ENSP00000366070:p.Val34Ala		Q66K36|Q8N1M0	Missense_Mutation	SNP	ENST00000376874.4	hg19	CCDS45006.1	.	.	.	.	.	.	.	.	.	.	A	33	5.253266	0.95336	.	.	ENSG00000188026	ENST00000376874	T	0.53423	0.62	4.59	4.59	0.56863	JNK/Rab-associated protein-1, N-terminal (1);	0.000000	0.64402	D	0.000007	T	0.52677	0.1749	L	0.53249	1.67	0.80722	D	1	P;D	0.53619	0.792;0.961	B;P	0.50082	0.415;0.63	T	0.58929	-0.7549	10	0.87932	D	0	18.0805	13.6685	0.62409	1.0:0.0:0.0:0.0	.	10;34	Q5EBL4-2;Q5EBL4	.;RIPL1_HUMAN	A	34	ENSP00000366070:V34A	ENSP00000366070:V34A	V	-	2	0	RILPL1	122583882	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.114000	0.77103	1.726000	0.51525	0.486000	0.48141	GTG		0.677	RILPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400595.1	NM_178314		G	124017929	A	G	124017929	3	3	789	1	0	0	0	0	1	0	0	0	13367	159	6	3	1138	3	RILPL1	12	124017929	Missense_Mutation	SNP	A	TCGA-SX-A7SM-01A-11D-A34Z-10	11395779	124017929	9833966	50	46907											
COG3	83548	hgsc.bcm.edu	37	13	46054390	46054390	+	Missense_Mutation	SNP	C	C	G			TCGA-SX-A7SM-01A-11D-A34Z-10	TCGA-SX-A7SM-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6a336f0-67fb-4b2b-b9fd-c5a0fb5d699e	bab99f69-b881-4371-88d4-ffdd35a761fd	g.chr13:46054390C>G	ENST00000349995.5	+	4	626	c.514C>G	c.(514-516)Cta>Gta	p.L172V		NM_031431.3	NP_113619	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3	172					ER to Golgi vesicle-mediated transport (GO:0006888)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		GACAGGAACCCTACATGAAGC	0.363																																					Ovarian(150;1048 1859 18083 21577 42700)											0													101	101	101					13																	46054390		2203	4300	6503	SO:0001583	missense	83548			AF131829	CCDS9398.1	13q14.11	2008-02-05			ENSG00000136152	ENSG00000136152		"Components of oligomeric golgi complex"	18619	protein-coding gene	gene with protein product		606975				11980916	Standard	NM_031431		Approved	SEC34	uc001vak.3	Q96JB2	OTTHUMG00000016855	ENST00000349995.5:c.514C>G	chr13.hg19:g.46054390C>G	ENSP00000258654:p.Leu172Val		B2RAW5|Q5VT70|Q8IXX4|Q9BZ92	Missense_Mutation	SNP	ENST00000349995.5	hg19	CCDS9398.1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.485022	0.63962	.	.	ENSG00000136152	ENST00000349995	T	0.59638	0.25	5.98	3.26	0.37387	.	0.000000	0.64402	D	0.000001	T	0.75982	0.3924	M	0.87097	2.86	0.58432	D	0.999999	D;D;D	0.89917	0.999;1.0;0.996	D;D;P	0.87578	0.997;0.998;0.865	T	0.77448	-0.2584	10	0.66056	D	0.02	-7.9329	9.7147	0.40268	0.0:0.7711:0.0:0.2289	.	9;172;172	B4E2F3;Q96JB2;Q96JB2-2	.;COG3_HUMAN;.	V	172	ENSP00000258654:L172V	ENSP00000258654:L172V	L	+	1	2	COG3	44952391	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	2.857000	0.48349	0.822000	0.34565	-0.229000	0.12294	CTA		0.363	COG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044777.2			G	46054390	C	G	46054390	3	3	789	1	0	0	0	0	1	0	0	0	3661	680	24	4	528	4	COG3	13	46054390	Missense_Mutation	SNP	C	TCGA-SX-A7SM-01A-11D-A34Z-10		46054390	69115488	51	46908											
NALCN	259232	hgsc.bcm.edu	37	13	101760142	101760142	+	Splice_Site	SNP	T	T	C			TCGA-SX-A7SM-01A-11D-A34Z-10	TCGA-SX-A7SM-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6a336f0-67fb-4b2b-b9fd-c5a0fb5d699e	bab99f69-b881-4371-88d4-ffdd35a761fd	g.chr13:101760142T>C	ENST00000251127.6	-	21	2446		c.e21-2			NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective						calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ATTGGAATGCTAGAAATAAAT	0.318																																																0													107	97	100					13																	101760142		2202	4300	6502	SO:0001630	splice_region_variant	259232			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"Ion channels / Sodium leak channels, non-selective"	19082	protein-coding gene	gene with protein product		611549	"voltage gated channel like 1"	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.2365-2A>G	chr13.hg19:g.101760142T>C			Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Splice_Site	SNP	ENST00000251127.6	hg19	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	T	17.72	3.459576	0.63401	.	.	ENSG00000102452	ENST00000251127	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6931	0.77469	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	NALCN	100558143	1.000000	0.71417	0.945000	0.38365	0.630000	0.37929	5.847000	0.69451	2.097000	0.63578	0.528000	0.53228	.		0.318	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867	Intron	C	101760142	T	C	101760142	5	2	789	1	0	0	0	0	0	0	1	0	10150	1536	53	3	2949	3	NALCN	13	101760142	Splice_Site	SNP	T	TCGA-SX-A7SM-01A-11D-A34Z-10	55705752	101760142	13409736	52	46909											
NIN	51199	hgsc.bcm.edu	37	14	51273464	51273464	+	Missense_Mutation	SNP	G	G	C			TCGA-SX-A7SM-01A-11D-A34Z-10	TCGA-SX-A7SM-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6a336f0-67fb-4b2b-b9fd-c5a0fb5d699e	bab99f69-b881-4371-88d4-ffdd35a761fd	g.chr14:51273464G>C	ENST00000382041.3	-	4	446	c.256C>G	c.(256-258)Caa>Gaa	p.Q86E	NIN_ENST00000324330.9_Missense_Mutation_p.Q86E|NIN_ENST00000389868.3_Missense_Mutation_p.Q86E|NIN_ENST00000382043.4_Missense_Mutation_p.Q86E|NIN_ENST00000453196.1_Missense_Mutation_p.Q86E|NIN_ENST00000245441.5_Missense_Mutation_p.Q86E|NIN_ENST00000530997.2_Missense_Mutation_p.Q86E	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	86					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					CCTGGTTCTTGAAAGTGTTCT	0.363			T	PDGFRB	MPD																																		Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	0													114	111	112					14																	51273464		2203	4300	6503	SO:0001583	missense	51199			AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"EF-hand domain containing"	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.256C>G	chr14.hg19:g.51273464G>C	ENSP00000371472:p.Gln86Glu		A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	ENST00000382041.3	hg19	CCDS32079.1	.	.	.	.	.	.	.	.	.	.	G	2.935	-0.220218	0.06061	.	.	ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000389868;ENST00000382043;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196;ENST00000453401;ENST00000496749	T;T;T;T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92;1.92;1.92;1.92	5.51	1.21	0.21127	.	0.499688	0.21964	N	0.066546	T	0.12263	0.0298	N	0.11023	0.085	0.25242	N	0.989742	B;B;B;B;B	0.13145	0.007;0.003;0.001;0.0;0.0	B;B;B;B;B	0.13407	0.009;0.006;0.002;0.002;0.002	T	0.28459	-1.0043	10	0.19590	T	0.45	-4.0393	11.4578	0.50191	0.0:0.3593:0.5227:0.118	.	92;86;86;86;86	Q8N4C6-5;C9J066;Q8N4C6;Q5BKU3;Q8N4C6-7	.;.;NIN_HUMAN;.;.	E	86;86;86;86;92;86;86;86;48;86	ENSP00000245441:Q86E;ENSP00000374518:Q86E;ENSP00000371474:Q86E;ENSP00000371472:Q86E;ENSP00000324210:Q86E;ENSP00000412391:Q86E;ENSP00000398641:Q48E;ENSP00000431826:Q86E	ENSP00000245441:Q86E	Q	-	1	0	NIN	50343214	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.799000	0.27028	0.642000	0.30620	0.491000	0.48974	CAA		0.363	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		C	51273464	G	C	51273464	3	2	789	1	0	0	0	0	1	0	0	0	10419	1299	45	4	6405	4	NIN	14	51273464	Missense_Mutation	SNP	G	TCGA-SX-A7SM-01A-11D-A34Z-10		51273464	56076076	53	46910											
HIF1A	3091	hgsc.bcm.edu	37	14	62207303	62207303	+	Silent	SNP	T	T	G			TCGA-SX-A7SM-01A-11D-A34Z-10	TCGA-SX-A7SM-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6a336f0-67fb-4b2b-b9fd-c5a0fb5d699e	bab99f69-b881-4371-88d4-ffdd35a761fd	g.chr14:62207303T>G	ENST00000337138.4	+	11	1882	c.1617T>G	c.(1615-1617)ctT>ctG	p.L539L	HIF1A_ENST00000323441.6_Silent_p.L539L|HIF1A-AS2_ENST00000554254.1_lincRNA|RP11-618G20.1_ENST00000555937.1_RNA|HIF1A_ENST00000394997.1_Silent_p.L540L|HIF1A_ENST00000557538.1_Silent_p.L480L|HIF1A_ENST00000539097.1_Silent_p.L563L	NM_001530.3	NP_001521.1	Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	539	NTAD.|ODD.				angiogenesis (GO:0001525)|axon transport of mitochondrion (GO:0019896)|B-1 B cell homeostasis (GO:0001922)|cardiac ventricle morphogenesis (GO:0003208)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cerebral cortex development (GO:0021987)|collagen metabolic process (GO:0032963)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|digestive tract morphogenesis (GO:0048546)|dopaminergic neuron differentiation (GO:0071542)|elastin metabolic process (GO:0051541)|embryonic hemopoiesis (GO:0035162)|embryonic placenta development (GO:0001892)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial to mesenchymal transition (GO:0001837)|glucose homeostasis (GO:0042593)|heart looping (GO:0001947)|hemoglobin biosynthetic process (GO:0042541)|intestinal epithelial cell maturation (GO:0060574)|lactate metabolic process (GO:0006089)|lactation (GO:0007595)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of bone mineralization (GO:0030502)|negative regulation of growth (GO:0045926)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of TOR signaling (GO:0032007)|neural crest cell migration (GO:0001755)|neural fold elevation formation (GO:0021502)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|oxygen homeostasis (GO:0032364)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine production (GO:0032722)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|vascular endothelial growth factor production (GO:0010573)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|Hsp90 protein binding (GO:0051879)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	Carvedilol(DB01136)	TAGAAAAACTTTTTGCTGAAG	0.289																																																0													95	95	95					14																	62207303		2203	4300	6503	SO:0001819	synonymous_variant	3091			U22431	CCDS9753.1, CCDS9754.1, CCDS58324.1	14q23.2	2013-05-21	2008-12-02		ENSG00000100644	ENSG00000100644		"Basic helix-loop-helix proteins"	4910	protein-coding gene	gene with protein product		603348				8786149, 9079689	Standard	NM_001530		Approved	MOP1, HIF-1alpha, PASD8, HIF1, bHLHe78	uc001xfq.2	Q16665	OTTHUMG00000140344	ENST00000337138.4:c.1617T>G	chr14.hg19:g.62207303T>G			C0LZJ3|Q53XP6|Q96PT9|Q9UPB1	Silent	SNP	ENST00000337138.4	hg19	CCDS9753.1																																																																																				0.289	HIF1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276977.2	NM_001530		G	62207303	T	G	62207303	2	3	789	1	0	0	0	0	0	0	0	1	7105	1828	64	5		5	HIF1A	14	62207303	Silent	SNP	T	TCGA-SX-A7SM-01A-11D-A34Z-10	10933839	62207303	45142237	54	46911											
C15orf57	90416	hgsc.bcm.edu	37	15	40846226	40846226	+	Missense_Mutation	SNP	G	G	A			TCGA-SX-A7SM-01A-11D-A34Z-10	TCGA-SX-A7SM-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6a336f0-67fb-4b2b-b9fd-c5a0fb5d699e	bab99f69-b881-4371-88d4-ffdd35a761fd	g.chr15:40846226G>A	ENST00000358005.3	-	4	775	c.502C>T	c.(502-504)Cca>Tca	p.P168S	C15orf57_ENST00000558750.1_Missense_Mutation_p.P177S|RP11-111A22.1_ENST00000561460.1_RNA|C15orf57_ENST00000559911.1_Intron|C15orf57_ENST00000560305.1_Intron|RP11-111A22.1_ENST00000561039.1_RNA|C15orf57_ENST00000561011.1_Intron|C15orf57_ENST00000558113.1_Intron|C15orf57_ENST00000416810.2_Missense_Mutation_p.P168S	NM_001080791.1|NM_052849.2	NP_001074260.1|NP_443081.1	Q9BV29	CO057_HUMAN	chromosome 15 open reading frame 57	168										endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	9						TCGGCCACTGGCTTCTCAACC	0.537																																																0													65	57	60					15																	40846226		2203	4300	6503	SO:0001583	missense	90416			BC012189	CCDS10060.1, CCDS42022.1, CCDS73706.1	15q15.1	2008-05-30	2008-05-30	2008-05-30	ENSG00000128891	ENSG00000128891			28295	protein-coding gene	gene with protein product			"coiled-coil domain containing 32"	CCDC32		12477932	Standard	NM_001080791		Approved	MGC20481	uc001zma.1	Q9BV29	OTTHUMG00000129993	ENST00000358005.3:c.502C>T	chr15.hg19:g.40846226G>A	ENSP00000350695:p.Pro168Ser		A8KAL4|Q86TC4|Q8N788|Q8NAR7	Missense_Mutation	SNP	ENST00000358005.3	hg19	CCDS10060.1	.	.	.	.	.	.	.	.	.	.	G	12.20	1.867941	0.32977	.	.	ENSG00000128891	ENST00000358005;ENST00000416810	T	0.42900	0.96	5.35	4.44	0.53790	.	0.298703	0.31821	N	0.007006	T	0.29093	0.0723	L	0.40543	1.245	0.29718	N	0.838855	B;B	0.29988	0.112;0.264	B;B	0.24701	0.032;0.055	T	0.17440	-1.0369	10	0.13108	T	0.6	-15.494	9.8807	0.41231	0.0728:0.1386:0.7886:0.0	.	168;177	Q9BV29;Q9BV29-2	CO057_HUMAN;.	S	168;177	ENSP00000350695:P168S	ENSP00000350695:P168S	P	-	1	0	C15orf57	38633518	1.000000	0.71417	0.996000	0.52242	0.669000	0.39330	1.577000	0.36515	1.487000	0.48415	0.655000	0.94253	CCA		0.537	C15orf57-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252259.2	NM_052849		A	40846226	G	A	40846226	3	1	789	1	0	0	0	0	1	0	0	0	1807	1203	42	2	59	2	C15orf57	15	40846226	Missense_Mutation	SNP	G	TCGA-SX-A7SM-01A-11D-A34Z-10		40846226	61685166	55	46912											
TLN2	83660	hgsc.bcm.edu	37	15	63073341	63073341	+	Frame_Shift_Del	DEL	G	G	-			TCGA-SX-A7SM-01A-11D-A34Z-10	TCGA-SX-A7SM-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6a336f0-67fb-4b2b-b9fd-c5a0fb5d699e	bab99f69-b881-4371-88d4-ffdd35a761fd	g.chr15:63073341delG	ENST00000561311.1	+	43	5747	c.5517delG	c.(5515-5517)ctgfs	p.L1839fs	TLN2_ENST00000472902.1_Frame_Shift_Del_p.L232fs|TLN2_ENST00000306829.6_Frame_Shift_Del_p.L1839fs			Q9Y4G6	TLN2_HUMAN	talin 2	1839					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						CTCTGTAGCTGGATGAAGGCA	0.453																																																0													60	59	59					15																	63073341		2203	4300	6503	SO:0001589	frameshift_variant	83660			AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.5517delG	chr15.hg19:g.63073341delG	ENSP00000453508:p.Leu1839fs		A6NLB8	Frame_Shift_Del	DEL	ENST00000561311.1	hg19	CCDS32261.1																																																																																				0.453	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			-	63073341	G	-	63073341	7	5	789	1	0	1	0	1	0	0	0	0	15953	1335	47	0	5679	0	TLN2	15	63073341	Frame_Shift_Del	DEL	G	TCGA-SX-A7SM-01A-11D-A34Z-10	22227115	63073341	39458051	56	46913											
TRIP4	9325	hgsc.bcm.edu	37	15	64710865	64710867	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-SX-A7SM-01A-11D-A34Z-10	TCGA-SX-A7SM-10A-01D-A34Z-10	TGG	TGG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6a336f0-67fb-4b2b-b9fd-c5a0fb5d699e	bab99f69-b881-4371-88d4-ffdd35a761fd	g.chr15:64710865_64710867delTGG	ENST00000261884.3	+	9	1356_1358	c.1296_1298delTGG	c.(1294-1299)gatggt>gat	p.G434del	RN7SL707P_ENST00000582206.1_RNA	NM_016213.4	NP_057297.2	Q15650	TRIP4_HUMAN	thyroid hormone receptor interactor 4	434					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						AAGGCTTTGATGGTGGCTGGTGC	0.453																																																0																																										SO:0001651	inframe_deletion	9325			L40371	CCDS10194.1	15q22.1	2014-02-17			ENSG00000103671	ENSG00000103671		"-"	12310	protein-coding gene	gene with protein product	"zinc finger, C2HC5-type"	604501				7776974	Standard	NM_016213		Approved	HsT17391, ZC2HC5	uc002anm.3	Q15650	OTTHUMG00000133033	ENST00000261884.3:c.1296_1298delTGG	chr15.hg19:g.64710868_64710870delTGG	ENSP00000261884:p.Gly434del		B2RAS0|Q96ED7|Q9UKH0	In_Frame_Del	DEL	ENST00000261884.3	hg19	CCDS10194.1																																																																																				0.453	TRIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256635.2	NM_016213		-	64710867	TGG	-	64710865	7	5	789	1	0	1	0	1	0	0	0	0	16563	1461	51	0	1330	0	TRIP4	15	64710865	In_Frame_Del	DEL	TGG	TCGA-SX-A7SM-01A-11D-A34Z-10	1637524	64710865	37820527	57	46914											
RPL4	6124	hgsc.bcm.edu	37	15	66791910	66791910	+	Silent	SNP	G	G	T			TCGA-SX-A7SM-01A-11D-A34Z-10	TCGA-SX-A7SM-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6a336f0-67fb-4b2b-b9fd-c5a0fb5d699e	bab99f69-b881-4371-88d4-ffdd35a761fd	g.chr15:66791910G>T	ENST00000307961.6	-	10	1211	c.1119C>A	c.(1117-1119)ggC>ggA	p.G373G	SNAPC5_ENST00000307979.7_5'Flank|SNAPC5_ENST00000395589.2_5'Flank|SNORD18C_ENST00000362704.1_RNA|SNORD18B_ENST00000365659.1_RNA|SNAPC5_ENST00000563480.2_5'Flank|SNAPC5_ENST00000316634.5_5'Flank|MIR4512_ENST00000583257.1_RNA|RPL4_ENST00000568588.1_Silent_p.G279G|SNAPC5_ENST00000566658.1_5'Flank	NM_000968.3	NP_000959.2	P36578	RL4_HUMAN	ribosomal protein L4	373	Lys-rich.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						CAGGCTTCTTGCCTGCAACCG	0.517																																																0													36	39	38					15																	66791910		2198	4294	6492	SO:0001819	synonymous_variant	6124			AB007167	CCDS10218.1	15q22	2011-04-06			ENSG00000174444	ENSG00000174444		"L ribosomal proteins"	10353	protein-coding gene	gene with protein product	"60S ribosomal protein L4"	180479				9582194, 8268230	Standard	NM_000968		Approved	L4	uc002apv.3	P36578	OTTHUMG00000133193	ENST00000307961.6:c.1119C>A	chr15.hg19:g.66791910G>T			A8K502|P39029|Q4VBR0|Q969Z9	Silent	SNP	ENST00000307961.6	hg19	CCDS10218.1																																																																																				0.517	RPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256903.2	NM_000968		T	66791910	G	T	66791910	2	4	789	1	0	0	0	0	0	0	0	1	13601	1306	46	4		4	RPL4	15	66791910	Silent	SNP	G	TCGA-SX-A7SM-01A-11D-A34Z-10	2081045	66791910	35739482	58	46915											
DNAJA4	55466	hgsc.bcm.edu	37	15	78566592	78566592	+	Missense_Mutation	SNP	G	G	T			TCGA-SX-A7SM-01A-11D-A34Z-10	TCGA-SX-A7SM-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6a336f0-67fb-4b2b-b9fd-c5a0fb5d699e	bab99f69-b881-4371-88d4-ffdd35a761fd	g.chr15:78566592G>T	ENST00000394852.3	+	4	662	c.472G>T	c.(472-474)Ggg>Tgg	p.G158W	DNAJA4_ENST00000446172.2_Missense_Mutation_p.G131W|DNAJA4_ENST00000343789.3_Missense_Mutation_p.G158W|DNAJA4_ENST00000394855.3_Missense_Mutation_p.G187W	NM_001130182.1	NP_001123654.1	Q8WW22	DNJA4_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 4	158					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						CAAGGGGCGGGGGATGCAGAT	0.622																																																0													65	52	57					15																	78566592		2196	4293	6489	SO:0001583	missense	55466			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.472G>T	chr15.hg19:g.78566592G>T	ENSP00000378321:p.Gly158Trp		E9PDM9|Q6AW87|Q8N5Z4|Q8N7P2	Missense_Mutation	SNP	ENST00000394852.3	hg19	CCDS45316.1	.	.	.	.	.	.	.	.	.	.	G	33	5.220515	0.95139	.	.	ENSG00000140403	ENST00000394855;ENST00000343789;ENST00000394852;ENST00000446172	T;T;T;D	0.85339	-1.47;-1.39;-1.39;-1.97	5.91	5.91	0.95273	HSP40/DnaJ peptide-binding (1);Heat shock protein DnaJ, cysteine-rich domain (4);	0.000000	0.85682	D	0.000000	D	0.96892	0.8985	H	0.99942	5.005	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.98616	1.0665	10	0.87932	D	0	-14.2943	19.2867	0.94077	0.0:0.0:1.0:0.0	.	73;131;158;187	Q9P1H1;E9PDM9;Q8WW22;Q8WW22-2	.;.;DNJA4_HUMAN;.	W	187;158;158;131	ENSP00000378324:G187W;ENSP00000339581:G158W;ENSP00000378321:G158W;ENSP00000413499:G131W	ENSP00000339581:G158W	G	+	1	0	DNAJA4	76353647	1.000000	0.71417	0.832000	0.32986	0.990000	0.78478	9.658000	0.98594	2.793000	0.96121	0.655000	0.94253	GGG		0.622	DNAJA4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289801.1	NM_018602		T	78566592	G	T	78566592	3	4	789	1	0	0	0	0	1	0	0	0	4616	1232	43	4	632	4	DNAJA4	15	78566592	Missense_Mutation	SNP	G	TCGA-SX-A7SM-01A-11D-A34Z-10	11774682	78566592	23964800	59	46916											
EME2	197342	hgsc.bcm.edu	37	16	1823269	1823269	+	Missense_Mutation	SNP	A	A	G	rs372940829	byFrequency	TCGA-SX-A7SM-01A-11D-A34Z-10	TCGA-SX-A7SM-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6a336f0-67fb-4b2b-b9fd-c5a0fb5d699e	bab99f69-b881-4371-88d4-ffdd35a761fd	g.chr16:1823269A>G	ENST00000568449.1	+	1	62	c.41A>G	c.(40-42)cAg>cGg	p.Q14R	MRPS34_ENST00000177742.3_5'Flank|NME3_ENST00000219302.3_5'Flank|MRPS34_ENST00000397375.2_5'Flank|NME3_ENST00000563498.1_5'Flank|EME2_ENST00000307394.7_Missense_Mutation_p.Q14R	NM_001257370.1	NP_001244299.1	A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	14					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						GTCTCTTGCCAGGGCCGGGGC	0.736								Direct reversal of damage;Homologous recombination					a|||	4	0.000798722	0.003	0.0	5008	,	,		10624	0.0		0.0	False		,,,				2504	0.0															0								A	ARG/GLN	2,3076		0,2,1537	3	5	4		41	-0.3	0	16		4	0,6824		0,0,3412	no	missense	EME2	NM_001010865.1	43	0,2,4949	GG,GA,AA		0.0,0.065,0.0202	benign	14/445	1823269	2,9900	1539	3412	4951	SO:0001583	missense	197342			AK074080	CCDS58404.1	16p13.3	2013-07-03	2013-07-03			ENSG00000197774			27289	protein-coding gene	gene with protein product	"SLX2 structure-specific endonuclease subunit homolog B (S. cerevisiae)"	610886	"essential meiotic endonuclease 1 homolog 2 (S. pombe)"			12721304	Standard	NM_001257370		Approved	FLJ00151, SLX2B	uc010brw.1	A4GXA9		ENST00000568449.1:c.41A>G	chr16.hg19:g.1823269A>G	ENSP00000457353:p.Gln14Arg		Q8TEP2|Q96RY3	Missense_Mutation	SNP	ENST00000568449.1	hg19	CCDS58404.1	.	.	.	.	.	.	.	.	.	.	a	1.144	-0.648714	0.03506	6.5E-4	0.0	ENSG00000197774	ENST00000307394;ENST00000454910	.	.	.	3.03	-0.341	0.12639	.	0.834282	0.09836	N	0.749571	T	0.15998	0.0385	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32903	-0.9889	8	0.06891	T	0.86	1.3716	8.4242	0.32718	0.1085:0.0:0.7482:0.1433	.	14	A4GXA9	EME2_HUMAN	R	14	.	ENSP00000303779:Q14R	Q	+	2	0	EME2	1763270	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.801000	0.04550	-0.678000	0.05224	-2.469000	0.00203	CAG		0.736	EME2-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433185.2	NM_001010865		G	1823269	A	G	1823269	3	3	789	1	0	0	0	0	1	0	0	0	5091	188	7	3	43	3	EME2	16	1823269	Missense_Mutation	SNP	A	TCGA-SX-A7SM-01A-11D-A34Z-10		1823269	88531484	60	46917											
MYLK3	91807	hgsc.bcm.edu	37	16	46771758	46771758	+	Missense_Mutation	SNP	G	G	A	rs374905189		TCGA-SX-A7SM-01A-11D-A34Z-10	TCGA-SX-A7SM-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6a336f0-67fb-4b2b-b9fd-c5a0fb5d699e	bab99f69-b881-4371-88d4-ffdd35a761fd	g.chr16:46771758G>A	ENST00000394809.4	-	3	981	c.866C>T	c.(865-867)tCg>tTg	p.S289L	MYLK3_ENST00000536476.1_Intron	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	289					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)				CCTGCTGGACGATGCTCCTTG	0.667																																																0								G	LEU/SER	0,4406		0,0,2203	81	80	80		866	-0.4	0	16		80	1,8599	1.2+/-3.3	0,1,4299	no	missense	MYLK3	NM_182493.2	145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	289/820	46771758	1,13005	2203	4300	6503	SO:0001583	missense	91807			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.866C>T	chr16.hg19:g.46771758G>A	ENSP00000378288:p.Ser289Leu		B5BUL9|B7Z5U8|Q32MK1|Q96DV1	Missense_Mutation	SNP	ENST00000394809.4	hg19	CCDS10723.2	.	.	.	.	.	.	.	.	.	.	G	12.29	1.893498	0.33442	0.0	1.16E-4	ENSG00000140795	ENST00000394809	T	0.69435	-0.4	4.94	-0.448	0.12230	.	0.616301	0.12413	N	0.471152	T	0.45094	0.1325	N	0.19112	0.55	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.22591	-1.0212	10	0.24483	T	0.36	.	7.4858	0.27432	0.6492:0.0:0.3508:0.0	.	289	Q32MK0	MYLK3_HUMAN	L	289	ENSP00000378288:S289L	ENSP00000378288:S289L	S	-	2	0	MYLK3	45329259	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.096000	0.15147	-0.029000	0.13827	0.655000	0.94253	TCG		0.667	MYLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255743.2	NM_182493		A	46771758	G	A	46771758	3	1	789	1	0	0	0	0	1	0	0	0	10060	1059	37	1	1637	1	MYLK3	16	46771758	Missense_Mutation	SNP	G	TCGA-SX-A7SM-01A-11D-A34Z-10	44948489	46771758	43582995	61	46918											
CNOT1	23019	hgsc.bcm.edu	37	16	58608632	58608633	+	Frame_Shift_Ins	INS	-	-	A			TCGA-SX-A7SM-01A-11D-A34Z-10	TCGA-SX-A7SM-10A-01D-A34Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6a336f0-67fb-4b2b-b9fd-c5a0fb5d699e	bab99f69-b881-4371-88d4-ffdd35a761fd	g.chr16:58608632_58608633insA	ENST00000317147.5	-	16	2191_2192	c.1859_1860insT	c.(1858-1860)ttafs	p.L620fs	CNOT1_ENST00000441024.2_Frame_Shift_Ins_p.L620fs|CNOT1_ENST00000569240.1_Frame_Shift_Ins_p.L620fs	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	620					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)		ACCGTCTCTTTAAAAAAGTCAT	0.396																																																0																																										SO:0001589	frameshift_variant	23019			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.1860dupT	chr16.hg19:g.58608638_58608638dupA	ENSP00000320949:p.Leu620fs		Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Frame_Shift_Ins	INS	ENST00000317147.5	hg19	CCDS10799.1																																																																																				0.396	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		A	58608633	-	A	58608632	7	5	789	1	0	1	1	0	0	0	0	0	3619	1751	61	0	5628	0	CNOT1	16	58608632	Frame_Shift_Ins	INS	-	TCGA-SX-A7SM-01A-11D-A34Z-10	11836874	58608632	31746121	62	46919											
KCTD19	146212	hgsc.bcm.edu	37	16	67337132	67337132	+	Missense_Mutation	SNP	C	C	A			TCGA-SX-A7SM-01A-11D-A34Z-10	TCGA-SX-A7SM-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6a336f0-67fb-4b2b-b9fd-c5a0fb5d699e	bab99f69-b881-4371-88d4-ffdd35a761fd	g.chr16:67337132C>A	ENST00000304372.5	-	4	615	c.560G>T	c.(559-561)aGc>aTc	p.S187I	KCTD19_ENST00000562860.1_5'UTR	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	187					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)		AGTCACTAGGCTGGGATATTT	0.577																																																0													79	83	81					16																	67337132		2093	4215	6308	SO:0001583	missense	146212			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.560G>T	chr16.hg19:g.67337132C>A	ENSP00000305702:p.Ser187Ile		B4DZ49|Q8N804	Missense_Mutation	SNP	ENST00000304372.5	hg19	CCDS42179.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.601465	0.46423	.	.	ENSG00000168676	ENST00000304372	T	0.60424	0.19	5.82	3.83	0.44106	.	0.366488	0.29980	N	0.010709	T	0.33933	0.0880	N	0.14661	0.345	0.28909	N	0.892832	B	0.17038	0.02	B	0.14023	0.01	T	0.11916	-1.0568	10	0.40728	T	0.16	-11.966	3.7416	0.08532	0.1448:0.5549:0.2088:0.0915	.	187	Q17RG1	KCD19_HUMAN	I	187	ENSP00000305702:S187I	ENSP00000305702:S187I	S	-	2	0	KCTD19	65894633	0.995000	0.38212	1.000000	0.80357	0.984000	0.73092	1.566000	0.36396	1.479000	0.48272	0.655000	0.94253	AGC		0.577	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	XM_085367		A	67337132	C	A	67337132	3	1	789	1	0	0	0	0	1	0	0	0	8108	797	28	4	2272	4	KCTD19	16	67337132	Missense_Mutation	SNP	C	TCGA-SX-A7SM-01A-11D-A34Z-10	8728500	67337132	23017621	63	46920											
ESRP2	80004	hgsc.bcm.edu	37	16	68265766	68265766	+	Missense_Mutation	SNP	T	T	C			TCGA-SX-A7SM-01A-11D-A34Z-10	TCGA-SX-A7SM-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6a336f0-67fb-4b2b-b9fd-c5a0fb5d699e	bab99f69-b881-4371-88d4-ffdd35a761fd	g.chr16:68265766T>C	ENST00000565858.1	-	10	1354	c.1268A>G	c.(1267-1269)aAg>aGg	p.K423R	RP11-96D1.11_ENST00000571197.1_RNA|ESRP2_ENST00000473183.2_Missense_Mutation_p.K413R	NM_024939.2	NP_079215.2	Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	423	RRM 2.				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)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						CAGCATGCCCTTGTGCCTGCG	0.617																																																0													52	47	49					16																	68265766		2198	4300	6498	SO:0001583	missense	80004			AK025571	CCDS10863.1	16q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000103067	ENSG00000103067		"RNA binding motif (RRM) containing"	26152	protein-coding gene	gene with protein product		612960	"RNA binding motif protein 35B"	RBM35B		12477932	Standard	NM_024939		Approved	FLJ21918	uc002evq.1	Q9H6T0	OTTHUMG00000137557	ENST00000565858.1:c.1268A>G	chr16.hg19:g.68265766T>C	ENSP00000454554:p.Lys423Arg		Q8N6H8|Q8WZ15|Q9H6I4	Missense_Mutation	SNP	ENST00000565858.1	hg19		.	.	.	.	.	.	.	.	.	.	T	12.90	2.075230	0.36662	.	.	ENSG00000103067	ENST00000473183	T	0.29917	1.55	5.93	5.93	0.95920	RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	T	0.23210	0.0561	N	0.11845	0.185	0.58432	D	0.999998	B;B	0.27068	0.167;0.002	B;B	0.37508	0.252;0.046	T	0.11891	-1.0569	10	0.11794	T	0.64	-15.5772	16.3829	0.83481	0.0:0.0:0.0:1.0	.	423;413	Q9H6T0;Q9H6T0-2	ESRP2_HUMAN;.	R	413	ENSP00000418748:K413R	ENSP00000418748:K413R	K	-	2	0	ESRP2	66823267	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.243000	0.72384	2.271000	0.75665	0.459000	0.35465	AAG		0.617	ESRP2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000433083.1	NM_024939		C	68265766	T	C	68265766	3	2	789	1	0	0	0	0	1	0	0	0	5261	1609	56	3	939	3	ESRP2	16	68265766	Missense_Mutation	SNP	T	TCGA-SX-A7SM-01A-11D-A34Z-10	928634	68265766	22088987	64	46921											
FXR2	9513	hgsc.bcm.edu	37	17	7506290	7506290	+	Missense_Mutation	SNP	G	G	T			TCGA-SX-A7SM-01A-11D-A34Z-10	TCGA-SX-A7SM-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6a336f0-67fb-4b2b-b9fd-c5a0fb5d699e	bab99f69-b881-4371-88d4-ffdd35a761fd	g.chr17:7506290G>T	ENST00000250113.7	-	6	814	c.480C>A	c.(478-480)ttC>ttA	p.F160L		NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	160						cytoplasm (GO:0005737)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.?(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		GGGCTTTCTTGAACTCTTTAT	0.463																																																1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)											88	83	85					17																	7506290		1857	4103	5960	SO:0001583	missense	9513			U31501	CCDS45604.1	17p13.3	2014-09-17				ENSG00000129245			4024	protein-coding gene	gene with protein product		605339		FMR1L2		7489725, 9259278	Standard	NM_004860		Approved		uc002gia.2	P51116		ENST00000250113.7:c.480C>A	chr17.hg19:g.7506290G>T	ENSP00000250113:p.Phe160Leu		B2R9M2|D3DTQ1|Q86V09|Q8WUM2	Missense_Mutation	SNP	ENST00000250113.7	hg19	CCDS45604.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.423205	0.62733	.	.	ENSG00000129245	ENST00000250113	T	0.56941	0.43	6.03	3.02	0.34903	.	0.050013	0.85682	D	0.000000	T	0.45796	0.1360	L	0.49455	1.56	0.48395	D	0.999643	B;B	0.20550	0.046;0.046	B;B	0.24006	0.05;0.05	T	0.39354	-0.9618	10	0.62326	D	0.03	2.3364	9.635	0.39802	0.2243:0.0:0.7757:0.0	.	160;160	Q86V09;P51116	.;FXR2_HUMAN	L	160	ENSP00000250113:F160L	ENSP00000250113:F160L	F	-	3	2	FXR2	7447015	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.970000	0.29383	0.457000	0.26962	0.655000	0.94253	TTC		0.463	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441084.1			T	7506290	G	T	7506290	3	4	789	1	0	0	0	0	1	0	0	0	6118	1281	45	4	1489	4	FXR2	17	7506290	Missense_Mutation	SNP	G	TCGA-SX-A7SM-01A-11D-A34Z-10		7506290	73688920	65	46922											
TBCD	6904	hgsc.bcm.edu	37	17	80858535	80858535	+	Missense_Mutation	SNP	T	T	A			TCGA-SX-A7SM-01A-11D-A34Z-10	TCGA-SX-A7SM-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6a336f0-67fb-4b2b-b9fd-c5a0fb5d699e	bab99f69-b881-4371-88d4-ffdd35a761fd	g.chr17:80858535T>A	ENST00000355528.4	+	18	1788	c.1658T>A	c.(1657-1659)aTt>aAt	p.I553N	TBCD_ENST00000397466.2_Missense_Mutation_p.I167N|TBCD_ENST00000539345.2_Missense_Mutation_p.I553N	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	553					'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)			AGTGTGTTTATTGCCGGCTTT	0.478																																																0													143	141	142					17																	80858535		2017	4169	6186	SO:0001583	missense	6904			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.1658T>A	chr17.hg19:g.80858535T>A	ENSP00000347719:p.Ile553Asn		O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Missense_Mutation	SNP	ENST00000355528.4	hg19	CCDS45818.1	.	.	.	.	.	.	.	.	.	.	T	14.04	2.417097	0.42918	.	.	ENSG00000141556	ENST00000355528;ENST00000334614;ENST00000397466;ENST00000536182	T;T	0.69561	-0.41;-0.41	5.23	5.23	0.72850	Armadillo-like helical (1);Armadillo-type fold (1);	0.067842	0.56097	D	0.000032	D	0.84786	0.5549	M	0.92219	3.285	0.50171	D	0.99985	D;D;D	0.89917	1.0;0.999;0.991	D;D;D	0.74348	0.976;0.983;0.92	D	0.88364	0.2990	9	.	.	.	.	13.0491	0.58944	0.0:0.0:0.0:1.0	.	553;553;553	Q9BTW9;Q9BTW9-4;F5H8C7	TBCD_HUMAN;.;.	N	553;304;167;553	ENSP00000347719:I553N;ENSP00000380608:I167N	.	I	+	2	0	TBCD	78451824	1.000000	0.71417	0.310000	0.25168	0.011000	0.07611	5.948000	0.70249	1.982000	0.57802	0.533000	0.62120	ATT		0.478	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439415.1	NM_005993		A	80858535	T	A	80858535	3	1	789	1	0	0	0	0	1	0	0	0	15638	1493	52	5	1728	5	TBCD	17	80858535	Missense_Mutation	SNP	T	TCGA-SX-A7SM-01A-11D-A34Z-10	73352245	80858535	336675	66	46923											
MIER2	54531	hgsc.bcm.edu	37	19	327981	327981	+	Missense_Mutation	SNP	G	G	T			TCGA-SX-A7SM-01A-11D-A34Z-10	TCGA-SX-A7SM-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6a336f0-67fb-4b2b-b9fd-c5a0fb5d699e	bab99f69-b881-4371-88d4-ffdd35a761fd	g.chr19:327981G>T	ENST00000264819.4	-	4	262	c.252C>A	c.(250-252)gaC>gaA	p.D84E	MIER2_ENST00000592722.1_5'UTR	NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	84					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)		CAAAGGGCATGTCGTTGCTCT	0.617																																																0													98	75	83					19																	327981		2203	4300	6503	SO:0001583	missense	54531			AB033019	CCDS32855.1	19p13.3	2008-02-05	2006-04-20	2006-04-20		ENSG00000105556			29210	protein-coding gene	gene with protein product			"KIAA1193"	KIAA1193		10574462	Standard	NM_017550		Approved		uc002lok.1	Q8N344		ENST00000264819.4:c.252C>A	chr19.hg19:g.327981G>T	ENSP00000264819:p.Asp84Glu		Q9ULM7	Missense_Mutation	SNP	ENST00000264819.4	hg19	CCDS32855.1	.	.	.	.	.	.	.	.	.	.	.	12.28	1.891165	0.33348	.	.	ENSG00000105556	ENST00000264819	T	0.20881	2.04	5.01	5.01	0.66863	.	0.131175	0.34223	N	0.004142	T	0.14270	0.0345	N	0.26042	0.785	0.36198	D	0.85053	B	0.18166	0.026	B	0.12837	0.008	T	0.15350	-1.0440	10	0.22706	T	0.39	-26.9904	11.1838	0.48644	0.0:0.0:0.8034:0.1966	.	84	Q8N344	MIER2_HUMAN	E	84	ENSP00000264819:D84E	ENSP00000264819:D84E	D	-	3	2	MIER2	278981	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	2.566000	0.45948	2.328000	0.79073	0.563000	0.77884	GAC		0.617	MIER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451784.1	XM_041843		T	327981	G	T	327981	3	4	789	1	0	0	0	0	1	0	0	0	9583	1368	48	4	1429	4	MIER2	19	327981	Missense_Mutation	SNP	G	TCGA-SX-A7SM-01A-11D-A34Z-10		327981	58801002	67	46924											
ZNF442	79973	hgsc.bcm.edu	37	19	12460640	12460640	+	Missense_Mutation	SNP	G	G	A			TCGA-SX-A7SM-01A-11D-A34Z-10	TCGA-SX-A7SM-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6a336f0-67fb-4b2b-b9fd-c5a0fb5d699e	bab99f69-b881-4371-88d4-ffdd35a761fd	g.chr19:12460640G>A	ENST00000242804.4	-	6	2341	c.1759C>T	c.(1759-1761)Ctt>Ttt	p.L587F	CTD-3105H18.13_ENST00000563695.2_lincRNA|ZNF442_ENST00000438182.1_Missense_Mutation_p.L518F	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	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(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						TGTCCTCGAAGGAAACGAGAA	0.423																																																0													122	108	112					19																	12460640		2203	4300	6503	SO:0001583	missense	79973			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.1759C>T	chr19.hg19:g.12460640G>A	ENSP00000242804:p.Leu587Phe		B4DJ48	Missense_Mutation	SNP	ENST00000242804.4	hg19	CCDS12271.1	.	.	.	.	.	.	.	.	.	.	G	9.506	1.104614	0.20632	.	.	ENSG00000198342	ENST00000242804;ENST00000438182	T;T	0.52057	0.68;0.68	0.792	-0.362	0.12560	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.33876	0.0878	L	0.48174	1.505	0.09310	N	1	B	0.31274	0.317	B	0.26969	0.075	T	0.18335	-1.0340	9	0.42905	T	0.14	.	5.0248	0.14379	0.2454:0.0:0.7546:0.0	.	587	Q9H7R0	ZN442_HUMAN	F	587;518	ENSP00000242804:L587F;ENSP00000388634:L518F	ENSP00000242804:L587F	L	-	1	0	ZNF442	12321640	0.004000	0.15560	0.001000	0.08648	0.030000	0.12068	-0.320000	0.08028	-0.075000	0.12798	0.306000	0.20318	CTT		0.423	ZNF442-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344109.1	NM_030824		A	12460640	G	A	12460640	3	1	789	1	0	0	0	0	1	0	0	0	17920	1000	35	2	128	2	ZNF442	19	12460640	Missense_Mutation	SNP	G	TCGA-SX-A7SM-01A-11D-A34Z-10	12132659	12460640	46668343	68	46925											
EPHX3	79852	hgsc.bcm.edu	37	19	15342598	15342598	+	Silent	SNP	G	G	A			TCGA-SX-A7SM-01A-11D-A34Z-10	TCGA-SX-A7SM-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6a336f0-67fb-4b2b-b9fd-c5a0fb5d699e	bab99f69-b881-4371-88d4-ffdd35a761fd	g.chr19:15342598G>A	ENST00000221730.3	-	2	538	c.318C>T	c.(316-318)ttC>ttT	p.F106F	EPHX3_ENST00000602233.1_Silent_p.F106F|EPHX3_ENST00000435261.1_Silent_p.F106F	NM_024794.2	NP_079070.1	Q9H6B9	EPHX3_HUMAN	epoxide hydrolase 3	106						extracellular region (GO:0005576)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						AGTTCTCAGGGAAGCCGTGCA	0.657																																																0													64	67	66					19																	15342598		2203	4300	6503	SO:0001819	synonymous_variant	79852			AK026061	CCDS12327.1	19p13.13	2011-10-05	2009-04-06	2009-04-06	ENSG00000105131	ENSG00000105131		"Abhydrolase domain containing"	23760	protein-coding gene	gene with protein product			"abhydrolase domain containing 9"	ABHD9			Standard	NM_024794		Approved	FLJ22408	uc002nap.3	Q9H6B9		ENST00000221730.3:c.318C>T	chr19.hg19:g.15342598G>A			A3KMR3	Silent	SNP	ENST00000221730.3	hg19	CCDS12327.1																																																																																				0.657	EPHX3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465797.1	NM_024794		A	15342598	G	A	15342598	2	1	789	1	0	0	0	0	0	0	0	1	5183	1165	41	2		2	EPHX3	19	15342598	Silent	SNP	G	TCGA-SX-A7SM-01A-11D-A34Z-10	2881958	15342598	43786385	69	46926											
RABAC1	10567	hgsc.bcm.edu	37	19	42461049	42461049	+	Missense_Mutation	SNP	G	G	C			TCGA-SX-A7SM-01A-11D-A34Z-10	TCGA-SX-A7SM-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6a336f0-67fb-4b2b-b9fd-c5a0fb5d699e	bab99f69-b881-4371-88d4-ffdd35a761fd	g.chr19:42461049G>C	ENST00000222008.6	-	5	604	c.507C>G	c.(505-507)ttC>ttG	p.F169L	RABAC1_ENST00000601891.1_Missense_Mutation_p.F135L|RABAC1_ENST00000601078.1_Missense_Mutation_p.F75L	NM_006423.2	NP_006414.2	Q9UI14	PRAF1_HUMAN	Rab acceptor 1 (prenylated)	169	Required for interaction with GDI1. {ECO:0000250}.					cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	identical protein binding (GO:0042802)			central_nervous_system(1)|kidney(1)|prostate(1)	3						CAATCTGGTGGAAGGCAGCGT	0.682																																																0													42	39	40					19																	42461049		2202	4297	6499	SO:0001583	missense	10567			AJ133534	CCDS12593.1	19q13.2	2012-09-20			ENSG00000105404	ENSG00000105404			9794	protein-coding gene	gene with protein product	"PRA1 domain family 1", "prenylated Rab acceptor 1"	604925				10329441, 10751420	Standard	NM_006423		Approved	PRA1, PRAF1, YIP3	uc002osf.3	Q9UI14		ENST00000222008.6:c.507C>G	chr19.hg19:g.42461049G>C	ENSP00000222008:p.Phe169Leu		Q7Z4Y2|Q9Y3R1	Missense_Mutation	SNP	ENST00000222008.6	hg19	CCDS12593.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.834121	0.50951	.	.	ENSG00000105404	ENST00000222008	T	0.38401	1.14	4.65	2.45	0.29901	.	0.000000	0.85682	D	0.000000	T	0.32496	0.0831	L	0.45698	1.435	0.58432	D	0.999996	P	0.47841	0.901	P	0.48598	0.583	T	0.05289	-1.0894	10	0.27785	T	0.31	-25.6508	5.0709	0.14606	0.1909:0.1743:0.6348:0.0	.	169	Q9UI14	PRAF1_HUMAN	L	169	ENSP00000222008:F169L	ENSP00000222008:F169L	F	-	3	2	RABAC1	47152889	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.693000	0.37742	0.495000	0.27882	0.563000	0.77884	TTC		0.682	RABAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463388.1	NM_006423		C	42461049	G	C	42461049	3	2	789	1	0	0	0	0	1	0	0	0	12966	1165	41	4	54	4	RABAC1	19	42461049	Missense_Mutation	SNP	G	TCGA-SX-A7SM-01A-11D-A34Z-10	27118451	42461049	16667934	70	46927											
TPRX1	284355	hgsc.bcm.edu	37	19	48305603	48305603	+	Missense_Mutation	SNP	G	G	A	rs199739873		TCGA-SX-A7SM-01A-11D-A34Z-10	TCGA-SX-A7SM-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6a336f0-67fb-4b2b-b9fd-c5a0fb5d699e	bab99f69-b881-4371-88d4-ffdd35a761fd	g.chr19:48305603G>A	ENST00000322175.3	-	2	820	c.665C>T	c.(664-666)cCg>cTg	p.P222L	TPRX1_ENST00000543508.1_Missense_Mutation_p.P212L|TPRX1_ENST00000535759.1_Missense_Mutation_p.P319L	NM_198479.2	NP_940881.2	Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	222	Gly-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P222L(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		gcctgggatcgggcctgggtt	0.667																																					Esophageal Squamous(123;175 2281 3051 32395)											1	Substitution - Missense(1)	prostate(1)											12	10	10					19																	48305603		1907	3812	5719	SO:0001583	missense	284355				CCDS33066.1	19q13.33	2011-07-08			ENSG00000178928	ENSG00000178928		"Homeoboxes / PRD class"	32174	protein-coding gene	gene with protein product		611166					Standard	XM_005258788		Approved	FLJ40321	uc002php.2	Q8N7U7		ENST00000322175.3:c.665C>T	chr19.hg19:g.48305603G>A	ENSP00000323455:p.Pro222Leu		A5D8Y3|B2RPL5	Missense_Mutation	SNP	ENST00000322175.3	hg19	CCDS33066.1	.	.	.	.	.	.	.	.	.	.	g	4.957	0.177797	0.09443	.	.	ENSG00000178928	ENST00000322175;ENST00000535759;ENST00000543508	D;D;T	0.93659	-2.02;-3.26;-0.19	0.401	-0.802	0.10889	.	.	.	.	.	D	0.83727	0.5317	N	0.14661	0.345	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.70901	-0.4746	8	0.56958	D	0.05	.	.	.	.	.	222	Q8N7U7	TPRX1_HUMAN	L	222;319;212	ENSP00000323455:P222L;ENSP00000438832:P319L;ENSP00000438712:P212L	ENSP00000323455:P222L	P	-	2	0	TPRX1	52997415	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.050000	0.03510	-0.453000	0.07076	-0.462000	0.05337	CCG		0.667	TPRX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409868.1	NM_198479		A	48305603	G	A	48305603	3	1	789	1	0	0	0	0	1	0	0	0	16427	1116	39	1	574	1	TPRX1	19	48305603	Missense_Mutation	SNP	G	TCGA-SX-A7SM-01A-11D-A34Z-10	5844554	48305603	10823380	71	46928											
RRBP1	6238	hgsc.bcm.edu	37	20	17602147	17602148	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-SX-A7SM-01A-11D-A34Z-10	TCGA-SX-A7SM-10A-01D-A34Z-10	GT	GT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6a336f0-67fb-4b2b-b9fd-c5a0fb5d699e	bab99f69-b881-4371-88d4-ffdd35a761fd	g.chr20:17602147_17602148delGT	ENST00000377813.1	-	16	3672_3673	c.3369_3370delAC	c.(3367-3372)acactgfs	p.L1124fs	RRBP1_ENST00000360807.4_Frame_Shift_Del_p.L691fs|RRBP1_ENST00000470422.1_5'UTR|RRBP1_ENST00000455029.2_Frame_Shift_Del_p.L465fs|RRBP1_ENST00000377807.2_Frame_Shift_Del_p.L691fs|RRBP1_ENST00000246043.4_Frame_Shift_Del_p.L1124fs			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	1124					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						TCGGCCTGCAGTGTGCTCTGCG	0.594																																																0																																										SO:0001589	frameshift_variant	6238			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.3369_3370delAC	chr20.hg19:g.17602149_17602150delGT	ENSP00000367044:p.Leu1124fs		A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Frame_Shift_Del	DEL	ENST00000377813.1	hg19																																																																																					0.594	RRBP1-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000078125.1	NM_001042576		-	17602148	GT	-	17602147	7	5	789	1	0	1	0	1	0	0	0	0	13684	1020	36	0	902	0	RRBP1	20	17602147	Frame_Shift_Del	DEL	GT	TCGA-SX-A7SM-01A-11D-A34Z-10		17602147	45423373	72	46929											
SLC12A5	57468	hgsc.bcm.edu	37	20	44670004	44670004	+	Silent	SNP	T	T	C			TCGA-SX-A7SM-01A-11D-A34Z-10	TCGA-SX-A7SM-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6a336f0-67fb-4b2b-b9fd-c5a0fb5d699e	bab99f69-b881-4371-88d4-ffdd35a761fd	g.chr20:44670004T>C	ENST00000454036.2	+	8	1009	c.960T>C	c.(958-960)caT>caC	p.H320H	SLC12A5_ENST00000243964.3_Silent_p.H297H	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	320					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TGTCTCGCCATGGCTTTGATG	0.572																																																0													104	92	96					20																	44670004		2203	4300	6503	SO:0001819	synonymous_variant	57468			AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"Solute carriers"	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.960T>C	chr20.hg19:g.44670004T>C			A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Silent	SNP	ENST00000454036.2	hg19	CCDS46610.1																																																																																				0.572	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			C	44670004	T	C	44670004	2	2	789	1	0	0	0	0	0	0	0	1	14392	1461	51	3		3	SLC12A5	20	44670004	Silent	SNP	T	TCGA-SX-A7SM-01A-11D-A34Z-10	27067857	44670004	18355516	73	46930											
DNAJC5	80331	hgsc.bcm.edu	37	20	62560863	62560863	+	Silent	SNP	C	C	T			TCGA-SX-A7SM-01A-11D-A34Z-10	TCGA-SX-A7SM-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6a336f0-67fb-4b2b-b9fd-c5a0fb5d699e	bab99f69-b881-4371-88d4-ffdd35a761fd	g.chr20:62560863C>T	ENST00000360864.4	+	3	459	c.306C>T	c.(304-306)tcC>tcT	p.S102S	DNAJC5_ENST00000369911.2_Silent_p.S102S	NM_025219.2	NP_079495.1	Q9H3Z4	DNJC5_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5	102					cell death (GO:0008219)|exocytosis (GO:0006887)|negative regulation of neuron apoptotic process (GO:0043524)|neurotransmitter secretion (GO:0007269)|regulated secretory pathway (GO:0045055)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)				cervix(1)|endometrium(1)|lung(1)|pancreas(1)|upper_aerodigestive_tract(1)	5	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TCGTGCTGTCCAGCTGGTGGG	0.642																																																0													118	94	102					20																	62560863		2203	4300	6503	SO:0001819	synonymous_variant	80331				CCDS13546.1	20q13.33	2014-09-17			ENSG00000101152	ENSG00000101152		"Heat shock proteins / DNAJ (HSP40)"	16235	protein-coding gene	gene with protein product		611203	"ceroid-lipofuscinosis, neuronal 4 (Kufs disease)"	CLN4			Standard	NM_025219		Approved	FLJ00118, FLJ13070, DNAJC5A	uc002yhf.3	Q9H3Z4	OTTHUMG00000033007	ENST00000360864.4:c.306C>T	chr20.hg19:g.62560863C>T			A8K0M0|B3KY68|E1P5G8|Q9H3Z5|Q9H7H2	Silent	SNP	ENST00000360864.4	hg19	CCDS13546.1																																																																																				0.642	DNAJC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080244.1	NM_025219		T	62560863	C	T	62560863	2	4	789	1	0	0	0	0	0	0	0	1	4652	581	21	2		2	DNAJC5	20	62560863	Silent	SNP	C	TCGA-SX-A7SM-01A-11D-A34Z-10	17890859	62560863	464657	74	46931											
SOX18	54345	hgsc.bcm.edu	37	20	62680619	62680619	+	Missense_Mutation	SNP	C	C	T			TCGA-SX-A7SM-01A-11D-A34Z-10	TCGA-SX-A7SM-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6a336f0-67fb-4b2b-b9fd-c5a0fb5d699e	bab99f69-b881-4371-88d4-ffdd35a761fd	g.chr20:62680619C>T	ENST00000340356.7	-	1	375	c.251G>A	c.(250-252)cGc>cAc	p.R84H	ZNF512B_ENST00000450537.1_5'Flank	NM_018419.2	NP_060889.1	P35713	SOX18_HUMAN	SRY (sex determining region Y)-box 18	84					angiogenesis (GO:0001525)|blood vessel endothelial cell migration (GO:0043534)|cell maturation (GO:0048469)|embryonic heart tube development (GO:0035050)|endocardial cell differentiation (GO:0060956)|endocardium formation (GO:0060214)|establishment of endothelial barrier (GO:0061028)|hair cycle process (GO:0022405)|hair follicle development (GO:0001942)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|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 transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of stem cell proliferation (GO:0072091)|stem cell fate specification (GO:0048866)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)	nuclear chromatin (GO:0000790)|nuclear transcription factor complex (GO:0044798)|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)|transcription regulatory region DNA binding (GO:0044212)			lung(3)	3	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					CCGCCGGATGCGCGACTCGTC	0.736																																					GBM(27;64 690 17108 39708)											0													24	27	26					20																	62680619		2194	4289	6483	SO:0001583	missense	54345			AB033888	CCDS13552.1	20q13.33	2008-07-28			ENSG00000203883	ENSG00000203883		"SRY (sex determining region Y)-boxes"	11194	protein-coding gene	gene with protein product		601618				10807548	Standard	NM_018419		Approved		uc002yhs.3	P35713	OTTHUMG00000033017	ENST00000340356.7:c.251G>A	chr20.hg19:g.62680619C>T	ENSP00000341815:p.Arg84His		Q0VGA9|Q9NPH8	Missense_Mutation	SNP	ENST00000340356.7	hg19	CCDS13552.1	.	.	.	.	.	.	.	.	.	.	c	22.7	4.321194	0.81580	.	.	ENSG00000203883	ENST00000340356	D	0.93906	-3.31	2.44	2.44	0.29823	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (2);	0.000000	0.64402	U	0.000006	D	0.92522	0.7625	N	0.20445	0.575	0.48341	D	0.999631	D	0.89917	1.0	D	0.87578	0.998	D	0.91194	0.4986	10	0.38643	T	0.18	.	12.5069	0.55986	0.0:1.0:0.0:0.0	.	84	P35713	SOX18_HUMAN	H	84	ENSP00000341815:R84H	ENSP00000341815:R84H	R	-	2	0	SOX18	62151063	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	2.710000	0.47169	1.197000	0.43143	0.187000	0.17357	CGC		0.736	SOX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080265.1			T	62680619	C	T	62680619	3	4	789	1	0	0	0	0	1	0	0	0	14954	768	27	1	911	1	SOX18	20	62680619	Missense_Mutation	SNP	C	TCGA-SX-A7SM-01A-11D-A34Z-10	119756	62680619	344901	75	46932											
MCM3AP	8888	hgsc.bcm.edu	37	21	47665020	47665020	+	Missense_Mutation	SNP	A	A	C			TCGA-SX-A7SM-01A-11D-A34Z-10	TCGA-SX-A7SM-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6a336f0-67fb-4b2b-b9fd-c5a0fb5d699e	bab99f69-b881-4371-88d4-ffdd35a761fd	g.chr21:47665020A>C	ENST00000397708.1	-	24	4993	c.4739T>G	c.(4738-4740)aTt>aGt	p.I1580S	MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP_ENST00000291688.1_Missense_Mutation_p.I1580S|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA|AP001469.7_ENST00000444966.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1580					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)					CTCATGGCCAATCCCGTCTTC	0.542																																																0													63	65	64					21																	47665020		2203	4300	6503	SO:0001583	missense	8888			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.4739T>G	chr21.hg19:g.47665020A>C	ENSP00000380820:p.Ile1580Ser		C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	hg19	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	A	12.96	2.094267	0.36952	.	.	ENSG00000160294	ENST00000397708;ENST00000291688;ENST00000539647	T;T	0.03831	3.79;3.79	5.31	5.31	0.75309	.	0.754197	0.12852	N	0.433865	T	0.07908	0.0198	L	0.44542	1.39	0.18873	N	0.999984	B;P	0.36909	0.181;0.573	B;B	0.37833	0.057;0.259	T	0.20672	-1.0268	10	0.87932	D	0	-2.8064	15.2629	0.73637	1.0:0.0:0.0:0.0	.	1580;75	O60318;B3KT88	MCM3A_HUMAN;.	S	1580;1580;75	ENSP00000380820:I1580S;ENSP00000291688:I1580S	ENSP00000291688:I1580S	I	-	2	0	MCM3AP	46489448	0.863000	0.29885	0.041000	0.18516	0.496000	0.33645	7.945000	0.87732	2.003000	0.58678	0.459000	0.35465	ATT		0.542	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		C	47665020	A	C	47665020	3	2	789	1	0	0	0	0	1	0	0	0	9390	101	4	5	1227	5	MCM3AP	21	47665020	Missense_Mutation	SNP	A	TCGA-SX-A7SM-01A-11D-A34Z-10		47665020	464875	76	46933											
CLCN5	1184	hgsc.bcm.edu	37	X	49851346	49851347	+	In_Frame_Ins	INS	-	-	TAA			TCGA-SX-A7SM-01A-11D-A34Z-10	TCGA-SX-A7SM-10A-01D-A34Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6a336f0-67fb-4b2b-b9fd-c5a0fb5d699e	bab99f69-b881-4371-88d4-ffdd35a761fd	g.chrX:49851346_49851347insTAA	ENST00000307367.2	+	8	1457_1458	c.1166_1167insTAA	c.(1165-1170)tttaat>ttTAAtaat	p.390_391insN	CLCN5_ENST00000376091.3_In_Frame_Ins_p.460_461insN|CLCN5_ENST00000376108.3_In_Frame_Ins_p.390_391insN|CLCN5_ENST00000376088.3_In_Frame_Ins_p.460_461insN			P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	390					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)					TCTGAGCTGTTTAATGACTGTG	0.515																																																0																																										SO:0001652	inframe_insertion	1184			X91906	CCDS14328.1, CCDS48115.1, CCDS69763.1	Xp11.23-p11.22	2012-09-26	2012-02-23		ENSG00000171365	ENSG00000171365		"Ion channels / Chloride channels : Voltage-sensitive"	2023	protein-coding gene	gene with protein product	"Dent disease"	300008	"nephrolithiasis 2, X-linked", "nephrolithiasis 1 (X-linked)", "chloride channel 5"	NPHL2, NPHL1		7874126, 8111383, 8099916, 8559248, 9602200	Standard	NM_001272102		Approved	DENTS, XLRH, hClC-K2, hCIC-K2, CLC5, XRN, ClC-5	uc004doq.1	P51795	OTTHUMG00000021514	ENST00000307367.2:c.1167_1169dupTAA	chrX.hg19:g.49851347_49851349dupTAA	ENSP00000304257:p.Asn390_Asn390dup		A1L475|B3KPN6|Q5JQD5|Q7RTN8	In_Frame_Ins	INS	ENST00000307367.2	hg19	CCDS14328.1																																																																																				0.515	CLCN5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056544.1			TAA	49851347	-	TAA	49851346	7	5	789	1	0	1	1	0	0	0	0	0	3468	1841	64	0	1410	0	CLCN5	23	49851346	In_Frame_Ins	INS	-	TCGA-SX-A7SM-01A-11D-A34Z-10		49851346	105419214	77	46934											
CENPI	2491	hgsc.bcm.edu	37	X	100402791	100402791	+	Missense_Mutation	SNP	G	G	T			TCGA-SX-A7SM-01A-11D-A34Z-10	TCGA-SX-A7SM-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e6a336f0-67fb-4b2b-b9fd-c5a0fb5d699e	bab99f69-b881-4371-88d4-ffdd35a761fd	g.chrX:100402791G>T	ENST00000372927.1	+	18	2143	c.1866G>T	c.(1864-1866)ttG>ttT	p.L622F	CENPI_ENST00000423383.1_Missense_Mutation_p.L622F|CENPI_ENST00000218507.5_Missense_Mutation_p.L622F	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	622					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						AAAATGAGTTGGTACAAAAGG	0.318																																																0													62	53	56					X																	100402791		2203	4297	6500	SO:0001583	missense	2491			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.1866G>T	chrX.hg19:g.100402791G>T	ENSP00000362018:p.Leu622Phe		Q5JWZ9|Q96ED0	Missense_Mutation	SNP	ENST00000372927.1	hg19	CCDS14479.1	.	.	.	.	.	.	.	.	.	.	G	4.054	0.007761	0.07866	.	.	ENSG00000102384	ENST00000423383;ENST00000218507;ENST00000372927	.	.	.	5.12	1.06	0.20224	.	1.201730	0.05831	N	0.617505	T	0.25938	0.0632	L	0.27053	0.805	0.09310	N	1	B;B	0.17038	0.02;0.02	B;B	0.14578	0.011;0.011	T	0.20042	-1.0287	9	0.10111	T	0.7	0.5429	4.4124	0.11439	0.1768:0.0:0.3555:0.4677	.	622;622	B4DZL4;Q92674	.;CENPI_HUMAN	F	622	.	ENSP00000218507:L622F	L	+	3	2	CENPI	100289447	0.000000	0.05858	0.000000	0.03702	0.282000	0.26991	0.391000	0.20784	-0.148000	0.11234	0.462000	0.41574	TTG		0.318	CENPI-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057519.1	NM_006733		T	100402791	G	T	100402791	3	4	789	1	0	0	0	0	1	0	0	0	3235	1339	47	4	1932	4	CENPI	23	100402791	Missense_Mutation	SNP	G	TCGA-SX-A7SM-01A-11D-A34Z-10	50551445	100402791	54867769	78	46935											
EBNA1BP2	10969	hgsc.bcm.edu	37	1	43637311	43637311	+	Silent	SNP	C	C	T			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr1:43637311C>T	ENST00000236051.2	-	3	303	c.162G>A	c.(160-162)aaG>aaA	p.K54K	WDR65_ENST00000528956.1_5'Flank|WDR65_ENST00000372492.4_5'Flank|EBNA1BP2_ENST00000472982.1_5'UTR|EBNA1BP2_ENST00000431635.2_Silent_p.K109K	NM_006824.2	NP_006815.2	Q99848	EBP2_HUMAN	EBNA1 binding protein 2	54					ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCAAACATTGCTTCAGGCCAT	0.527																																																0													143	142	143					1																	43637311		2203	4300	6503	SO:0001819	synonymous_variant	10969			U86602	CCDS478.1, CCDS53308.1	1p35-p33	2011-02-10	2001-11-28		ENSG00000117395	ENSG00000117395			15531	protein-coding gene	gene with protein product		614443	"EBNA1-binding protein 2"			10074103, 11438656	Standard	NM_001159936		Approved	NOBP, EBP2, P40	uc010ojx.2	Q99848	OTTHUMG00000007284	ENST00000236051.2:c.162G>A	chr1.hg19:g.43637311C>T			Q96A66	Silent	SNP	ENST00000236051.2	hg19	CCDS478.1																																																																																				0.527	EBNA1BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019015.1			T	43637311	C	T	43637311	2	4	790	1	0	0	0	0	0	0	0	1	4887	796	28	2		2	EBNA1BP2	1	43637311	Silent	SNP	C	TCGA-SX-A7SN-01A-11D-A34Z-10		43637311	205613310	1	46936											
NRD1	4898	hgsc.bcm.edu	37	1	52277743	52277743	+	Missense_Mutation	SNP	T	T	C			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr1:52277743T>C	ENST00000354831.7	-	17	2095	c.1906A>G	c.(1906-1908)Atg>Gtg	p.M636V	NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000544028.1_Missense_Mutation_p.M436V|NRD1_ENST00000539524.1_Missense_Mutation_p.M504V|NRD1_ENST00000352171.7_Missense_Mutation_p.M568V	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	567					cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						TTCTCACACATGTTTTCCACA	0.368																																																0													140	127	131					1																	52277743		2203	4300	6503	SO:0001583	missense	4898			X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.1906A>G	chr1.hg19:g.52277743T>C	ENSP00000346890:p.Met636Val		A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Missense_Mutation	SNP	ENST00000354831.7	hg19	CCDS559.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.945|8.945	0.966856|0.966856	0.18659|0.18659	.|.	.|.	ENSG00000078618|ENSG00000078618	ENST00000440943|ENST00000352171;ENST00000354831;ENST00000539524;ENST00000371665;ENST00000546169;ENST00000544028	.|T;T;T;T	.|0.27720	.|1.65;1.66;1.66;1.66	5.98|5.98	4.85|4.85	0.62838|0.62838	.|Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	.|0.175165	.|0.64402	.|D	.|0.000009	T|T	0.12050|0.12050	0.0293|0.0293	N|N	0.01297|0.01297	-0.9|-0.9	0.35327|0.35327	D|D	0.785267|0.785267	.|B;B;B	.|0.13145	.|0.004;0.003;0.007	.|B;B;B	.|0.06405	.|0.002;0.001;0.001	T|T	0.09907|0.09907	-1.0653|-1.0653	5|10	.|0.30854	.|T	.|0.27	-5.3765|-5.3765	12.8858|12.8858	0.58042|0.58042	0.0:0.0:0.3186:0.6814|0.0:0.0:0.3186:0.6814	.|.	.|568;567;636	.|F5H6R2;O43847;B1AKJ5	.|.;NRDC_HUMAN;.	R|V	22|568;636;504;38;568;436	.|ENSP00000262679:M568V;ENSP00000346890:M636V;ENSP00000444416:M504V;ENSP00000442262:M436V	.|ENSP00000262679:M568V	H|M	-|-	2|1	0|0	NRD1|NRD1	52050331|52050331	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	2.668000|2.668000	0.46816|0.46816	1.068000|1.068000	0.40764|0.40764	0.528000|0.528000	0.53228|0.53228	CAT|ATG		0.368	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	NM_002525		C	52277743	T	C	52277743	3	2	790	1	0	0	0	0	1	0	0	0	10647	1464	51	3	1821	3	NRD1	1	52277743	Missense_Mutation	SNP	T	TCGA-SX-A7SN-01A-11D-A34Z-10	8640432	52277743	196972878	2	46937											
C1orf173	127254	hgsc.bcm.edu	37	1	75072484	75072484	+	Frame_Shift_Del	DEL	T	T	-			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr1:75072484delT	ENST00000326665.5	-	10	1508	c.1290delA	c.(1288-1290)aaafs	p.K430fs	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Frame_Shift_Del_p.K233fs	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		430	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						CTTTCCTCACTTTCCCCTCAG	0.403																																																0													150	144	146					1																	75072484		2203	4298	6501	SO:0001589	frameshift_variant	127254																														ENST00000326665.5:c.1290delA	chr1.hg19:g.75072484delT	ENSP00000322609:p.Lys430fs		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Frame_Shift_Del	DEL	ENST00000326665.5	hg19	CCDS30755.1																																																																																				0.403	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			-	75072484	T	-	75072484	7	5	790	1	0	1	0	1	0	0	0	0	2016	1606	56	0	3322	0	C1orf173	1	75072484	Frame_Shift_Del	DEL	T	TCGA-SX-A7SN-01A-11D-A34Z-10	22794741	75072484	174178137	3	46938											
LRRC8D	55144	hgsc.bcm.edu	37	1	90399387	90399387	+	Missense_Mutation	SNP	A	A	C			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr1:90399387A>C	ENST00000337338.5	+	3	1167	c.760A>C	c.(760-762)Atc>Ctc	p.I254L	LRRC8D_ENST00000394593.3_Missense_Mutation_p.I254L	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	254					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)		TACACCAATGATCAATAAAAC	0.463																																																0													49	47	48					1																	90399387		2203	4300	6503	SO:0001583	missense	55144			AK001332	CCDS726.1	1p22.2	2008-02-05	2005-06-29	2005-06-29	ENSG00000171492	ENSG00000171492			16992	protein-coding gene	gene with protein product		612890	"leucine rich repeat containing 5"	LRRC5			Standard	NM_018103		Approved	FLJ10470	uc001dnn.3	Q7L1W4	OTTHUMG00000010583	ENST00000337338.5:c.760A>C	chr1.hg19:g.90399387A>C	ENSP00000338887:p.Ile254Leu		D3DT29|Q6UWB2|Q9NVW3	Missense_Mutation	SNP	ENST00000337338.5	hg19	CCDS726.1	.	.	.	.	.	.	.	.	.	.	A	0.018	-1.467060	0.01053	.	.	ENSG00000171492	ENST00000337338;ENST00000394593;ENST00000441269	T;T;T	0.39229	1.67;1.67;1.09	5.88	5.88	0.94601	.	0.132704	0.47093	D	0.000259	T	0.04679	0.0127	N	0.00186	-1.895	0.40496	D	0.980591	B	0.02656	0.0	B	0.01281	0.0	T	0.34750	-0.9816	9	.	.	.	.	16.3009	0.82811	1.0:0.0:0.0:0.0	.	254	Q7L1W4	LRC8D_HUMAN	L	254	ENSP00000338887:I254L;ENSP00000378093:I254L;ENSP00000405784:I254L	.	I	+	1	0	LRRC8D	90171975	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	3.832000	0.55783	2.246000	0.74042	0.533000	0.62120	ATC		0.463	LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029203.2	NM_018103		C	90399387	A	C	90399387	3	2	790	1	0	0	0	0	1	0	0	0	9026	333	12	5	762	5	LRRC8D	1	90399387	Missense_Mutation	SNP	A	TCGA-SX-A7SN-01A-11D-A34Z-10	15326903	90399387	158851234	4	46939	504	2									
LRRC8D	55144	hgsc.bcm.edu	37	1	90399389	90399389	+	Frame_Shift_Del	DEL	C	C	-			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr1:90399389delC	ENST00000337338.5	+	3	1169	c.762delC	c.(760-762)atcfs	p.I254fs	LRRC8D_ENST00000394593.3_Frame_Shift_Del_p.I254fs	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	254					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)		CACCAATGATCAATAAAACTG	0.463																																																0													48	46	47					1																	90399389		2203	4300	6503	SO:0001589	frameshift_variant	55144			AK001332	CCDS726.1	1p22.2	2008-02-05	2005-06-29	2005-06-29	ENSG00000171492	ENSG00000171492			16992	protein-coding gene	gene with protein product		612890	"leucine rich repeat containing 5"	LRRC5			Standard	NM_018103		Approved	FLJ10470	uc001dnn.3	Q7L1W4	OTTHUMG00000010583	ENST00000337338.5:c.762delC	chr1.hg19:g.90399389delC	ENSP00000338887:p.Ile254fs		D3DT29|Q6UWB2|Q9NVW3	Frame_Shift_Del	DEL	ENST00000337338.5	hg19	CCDS726.1																																																																																				0.463	LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029203.2	NM_018103		-	90399389	C	-	90399389	7	5	790	1	0	1	0	1	0	0	0	0	9026	816	29	0	764	0	LRRC8D	1	90399389	Frame_Shift_Del	DEL	C	TCGA-SX-A7SN-01A-11D-A34Z-10	2	90399389	158851232	5	46940	504	2									
PTBP2	58155	hgsc.bcm.edu	37	1	97278858	97278858	+	Missense_Mutation	SNP	T	T	C			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr1:97278858T>C	ENST00000426398.2	+	14	1536	c.1493T>C	c.(1492-1494)aTg>aCg	p.M498T	PTBP2_ENST00000370197.1_Missense_Mutation_p.M504T|PTBP2_ENST00000609116.1_Missense_Mutation_p.M499T|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000370198.1_Missense_Mutation_p.M503T|PTBP2_ENST00000394184.3_Missense_Mutation_p.M515T|PTBP2_ENST00000541987.1_3'UTR	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	498	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splice site selection (GO:0006376)|negative regulation of RNA splicing (GO:0033119)|regulation of neural precursor cell proliferation (GO:2000177)	spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		CTTCTTCAGATGGCAACAGTG	0.338																																																0													69	77	75					1																	97278858		2203	4300	6503	SO:0001583	missense	58155			AB051232	CCDS754.1, CCDS72828.1, CCDS72829.1, CCDS72830.1	1p21.3	2013-07-16			ENSG00000117569	ENSG00000117569		"RNA binding motif (RRM) containing"	17662	protein-coding gene	gene with protein product		608449				11003644	Standard	XM_005271084		Approved	brPTB, nPTB, PTB, PTBLP	uc001drq.3	Q9UKA9	OTTHUMG00000010685	ENST00000426398.2:c.1493T>C	chr1.hg19:g.97278858T>C	ENSP00000412788:p.Met498Thr		Q8N0Z1|Q8N160|Q8NFB0|Q8NFB1|Q969N9|Q96Q76	Missense_Mutation	SNP	ENST00000426398.2	hg19	CCDS754.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.282184	0.80692	.	.	ENSG00000117569	ENST00000236228;ENST00000543738;ENST00000370198;ENST00000370197;ENST00000426398;ENST00000394184	T;T;T;T;T	0.09538	2.97;2.97;2.97;2.97;2.97	5.5	5.5	0.81552	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.38983	0.1061	H	0.95745	3.715	0.80722	D	1	P;P;P;P;B;B;P	0.48694	0.891;0.914;0.66;0.894;0.354;0.059;0.868	D;D;D;D;P;P;D	0.70716	0.966;0.97;0.933;0.949;0.772;0.732;0.93	T	0.54827	-0.8235	10	0.87932	D	0	-4.0584	15.8942	0.79323	0.0:0.0:0.0:1.0	.	507;515;171;503;498;499;504	B4DSU5;B4DSS8;B4DSI2;Q9UKA9-4;Q9UKA9;Q9UKA9-2;Q9UKA9-3	.;.;.;.;PTBP2_HUMAN;.;.	T	499;171;503;504;498;515	ENSP00000236228:M499T;ENSP00000359217:M503T;ENSP00000359216:M504T;ENSP00000412788:M498T;ENSP00000377738:M515T	ENSP00000236228:M499T	M	+	2	0	PTBP2	97051446	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.993000	0.88291	2.206000	0.71126	0.528000	0.53228	ATG		0.338	PTBP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029453.1			C	97278858	T	C	97278858	3	2	790	1	0	0	0	0	1	0	0	0	12731	1464	51	3	1547	3	PTBP2	1	97278858	Missense_Mutation	SNP	T	TCGA-SX-A7SN-01A-11D-A34Z-10	6879469	97278858	151971763	6	46941											
MAGI3	260425	hgsc.bcm.edu	37	1	114184618	114184618	+	Silent	SNP	C	C	T			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr1:114184618C>T	ENST00000307546.9	+	10	1521	c.1446C>T	c.(1444-1446)gtC>gtT	p.V482V	MAGI3_ENST00000369615.1_Silent_p.V482V|MAGI3_ENST00000369617.4_Silent_p.V507V|MAGI3_ENST00000369611.4_Silent_p.V482V	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	507	Interaction with PTEN.|PDZ 2. {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)		TGGTACCTGTCAATCAGTATG	0.428																																																0													218	189	199					1																	114184618		2203	4300	6503	SO:0001819	synonymous_variant	260425			AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.1446C>T	chr1.hg19:g.114184618C>T			Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Silent	SNP	ENST00000307546.9	hg19	CCDS44196.1																																																																																				0.428	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900		T	114184618	C	T	114184618	2	4	790	1	0	0	0	0	0	0	0	1	9194	813	29	2		2	MAGI3	1	114184618	Silent	SNP	C	TCGA-SX-A7SN-01A-11D-A34Z-10	16905760	114184618	135066003	7	46942											
SPAG17	200162	hgsc.bcm.edu	37	1	118509280	118509281	+	Frame_Shift_Ins	INS	-	-	A			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr1:118509280_118509281insA	ENST00000336338.5	-	47	6548_6549	c.6483_6484insT	c.(6481-6486)aatatcfs	p.I2162fs		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	2162						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)		ATAATCTCGATATTGTGAGAGA	0.421																																																0																																										SO:0001589	frameshift_variant	200162				CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.6484dupT	chr1.hg19:g.118509281_118509281dupA	ENSP00000337804:p.Ile2162fs		Q8NAZ1|Q9NT21	Frame_Shift_Ins	INS	ENST00000336338.5	hg19	CCDS899.1																																																																																				0.421	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		A	118509281	-	A	118509280	7	5	790	1	0	1	1	0	0	0	0	0	14985	1406	49	0	195	0	SPAG17	1	118509280	Frame_Shift_Ins	INS	-	TCGA-SX-A7SN-01A-11D-A34Z-10	4324662	118509280	130741341	8	46943											
ITGA10	8515	hgsc.bcm.edu	37	1	145525111	145525111	+	Missense_Mutation	SNP	C	C	A			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr1:145525111C>A	ENST00000369304.3	+	1	221	c.46C>A	c.(46-48)Ctg>Atg	p.L16M	ITGA10_ENST00000539363.1_Missense_Mutation_p.L16M|ITGA10_ENST00000538811.1_5'UTR	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	16					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)					CCTGGTGTTCCTGACAGGTGA	0.468											OREG0013749	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													221	186	197					1																	145525111		2203	4300	6503	SO:0001583	missense	8515			AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"Integrins"	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.46C>A	chr1.hg19:g.145525111C>A	ENSP00000358310:p.Leu16Met	1695	B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Missense_Mutation	SNP	ENST00000369304.3	hg19	CCDS918.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.077591	0.76528	.	.	ENSG00000143127	ENST00000369304;ENST00000539363	T;T	0.61274	0.12;0.29	5.43	5.43	0.79202	.	0.210074	0.29956	N	0.010776	T	0.65270	0.2675	L	0.55990	1.75	0.80722	D	1	D;B;D	0.76494	0.998;0.074;0.999	D;B;D	0.85130	0.994;0.031;0.997	T	0.63501	-0.6623	10	0.46703	T	0.11	.	14.599	0.68427	0.0:1.0:0.0:0.0	.	16;16;16	B2RTV5;O75578;O75578-2	.;ITA10_HUMAN;.	M	16	ENSP00000358310:L16M;ENSP00000439894:L16M	ENSP00000358310:L16M	L	+	1	2	ITGA10	144236468	0.999000	0.42202	0.998000	0.56505	0.899000	0.52679	1.993000	0.40747	2.825000	0.97269	0.655000	0.94253	CTG		0.468	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		A	145525111	C	A	145525111	3	1	790	1	0	0	0	0	1	0	0	0	7875	680	24	4	48	4	ITGA10	1	145525111	Missense_Mutation	SNP	C	TCGA-SX-A7SN-01A-11D-A34Z-10	27015831	145525111	103725510	9	46944											
SNX27	81609	hgsc.bcm.edu	37	1	151611491	151611491	+	Missense_Mutation	SNP	G	G	C			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr1:151611491G>C	ENST00000458013.2	+	2	559	c.439G>C	c.(439-441)Gac>Cac	p.D147H	SNX27_ENST00000368838.1_Missense_Mutation_p.D54H|SNX27_ENST00000368843.3_Missense_Mutation_p.D147H			Q96L92	SNX27_HUMAN	sorting nexin family member 27	147					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)			AGATCCCAGTGACGACTCGTT	0.468																																					Colon(46;291 966 40145 41237 41888)											0													134	118	124					1																	151611491		2203	4300	6503	SO:0001583	missense	81609			AB007957	CCDS1001.1	1q21.3	2008-03-11			ENSG00000143376	ENSG00000143376		"Sorting nexins"	20073	protein-coding gene	gene with protein product		611541				12461558	Standard	XM_005245509		Approved	MY014, KIAA0488, MGC20471	uc001eyn.1	Q96L92	OTTHUMG00000013052	ENST00000458013.2:c.439G>C	chr1.hg19:g.151611491G>C	ENSP00000400333:p.Asp147His		Q32Q36|Q4AEJ5|Q5VWB0|Q5VWB1|Q5VWB2|Q6IPP6|Q86UB1|Q96D79|Q9H3K8	Missense_Mutation	SNP	ENST00000458013.2	hg19		.	.	.	.	.	.	.	.	.	.	G	21.4	4.140324	0.77775	.	.	ENSG00000143376	ENST00000458013;ENST00000368843;ENST00000368838	T;T;T	0.53640	0.61;0.62;0.81	4.49	4.49	0.54785	Phox homologous domain (1);PDZ/DHR/GLGF (1);	0.000000	0.85682	D	0.000000	T	0.55353	0.1915	M	0.64404	1.975	0.80722	D	1	D;D	0.69078	0.989;0.997	P;P	0.61477	0.838;0.889	T	0.60505	-0.7250	10	0.66056	D	0.02	.	15.8961	0.79336	0.0:0.0:1.0:0.0	.	147;147	Q96L92;Q96L92-3	SNX27_HUMAN;.	H	147;147;54	ENSP00000400333:D147H;ENSP00000357836:D147H;ENSP00000357831:D54H	ENSP00000357831:D54H	D	+	1	0	SNX27	149878115	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.235000	0.95353	2.331000	0.79229	0.591000	0.81541	GAC		0.468	SNX27-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000036624.3	NM_030918		C	151611491	G	C	151611491	3	2	790	1	0	0	0	0	1	0	0	0	14903	1290	45	4	445	4	SNX27	1	151611491	Missense_Mutation	SNP	G	TCGA-SX-A7SN-01A-11D-A34Z-10	6086380	151611491	97639130	10	46945											
TDRD10	126668	hgsc.bcm.edu	37	1	154520167	154520167	+	3'UTR	SNP	A	A	T			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr1:154520167A>T	ENST00000368480.3	+	0	1320				TDRD10_ENST00000368482.4_Missense_Mutation_p.K346M|TDRD10_ENST00000479937.1_3'UTR			Q5VZ19	TDR10_HUMAN	tudor domain containing 10								nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CACATCCTAAAGTTTGAAGAG	0.527																																																0													107	103	104					1																	154520167		2203	4300	6503	SO:0001624	3_prime_UTR_variant	126668			AL713777	CCDS30878.2, CCDS41406.1	1q21.3	2013-02-12			ENSG00000163239	ENSG00000163239		"Tudor domain containing", "RNA binding motif (RRM) containing"	25316	protein-coding gene	gene with protein product						12975309	Standard	NM_182499		Approved	DKFZp434M202	uc009wow.3	Q5VZ19	OTTHUMG00000037264	ENST00000368480.3:c.*134A>T	chr1.hg19:g.154520167A>T			A4FU09|B0QZ53|B4DXV4|Q3ZCP1|Q3ZCS7|Q5SXY7|Q6UXV2|Q8TCN3	Missense_Mutation	SNP	ENST00000368480.3	hg19	CCDS41406.1	.	.	.	.	.	.	.	.	.	.	A	15.17	2.753359	0.49362	.	.	ENSG00000163239	ENST00000368482	T	0.31769	1.48	4.9	1.07	0.20283	.	.	.	.	.	T	0.08403	0.0209	.	.	.	0.26631	N	0.972462	P	0.37955	0.612	B	0.37692	0.256	T	0.22208	-1.0223	8	0.35671	T	0.21	.	5.9611	0.19301	0.5122:0.3295:0.0:0.1583	.	346	Q5VZ19-2	.	M	346	ENSP00000357467:K346M	ENSP00000357467:K346M	K	+	2	0	TDRD10	152786791	0.022000	0.18835	0.030000	0.17652	0.002000	0.02628	0.010000	0.13242	0.068000	0.16574	-0.313000	0.08912	AAG		0.527	TDRD10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090700.2	NM_182499		T	154520167	A	T	154520167	1	4	790	0	1	0	0	0	0	0	0	0	15736	72	3	5		5	TDRD10	1	154520167	3'UTR	SNP	A	TCGA-SX-A7SN-01A-11D-A34Z-10	2908676	154520167	94730454	11	46946											
C1orf107	27042	hgsc.bcm.edu	37	1	210010373	210010380	+	Frame_Shift_Del	DEL	CTACCCGG	CTACCCGG	-	rs200536666		TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	CTACCCGG	CTACCCGG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr1:210010373_210010380delCTACCCGG	ENST00000491415.2	+	6	936_943	c.879_886delCTACCCGG	c.(877-888)ttctacccggaafs	p.FYPE293fs		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	293					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						GGGACCTGTTCTACCCGGAAAGGACTGC	0.49																																																0																																										SO:0001589	frameshift_variant	27042			BC022964	CCDS1493.1	1q32.2	2011-08-12	2011-02-16	2011-02-16	ENSG00000117597	ENSG00000117597			28440	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 107"	C1orf107		16322560	Standard	NM_014388		Approved	MGC29875, DEF, UTP25	uc001hhr.2	Q68CQ4	OTTHUMG00000036654	ENST00000491415.2:c.879_886delCTACCCGG	chr1.hg19:g.210010373_210010380delCTACCCGG	ENSP00000419005:p.Phe293fs		O75992|Q4VY00|Q63HL9	Frame_Shift_Del	DEL	ENST00000491415.2	hg19	CCDS1493.1																																																																																				0.49	DIEXF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089127.2	NM_014388		-	210010380	CTACCCGG	-	210010373	7	5	790	1	0	1	0	1	0	0	0	0	1983	912	32	0	901	0	C1orf107	1	210010373	Frame_Shift_Del	DEL	CTACCCGG	TCGA-SX-A7SN-01A-11D-A34Z-10	55490206	210010373	39240248	12	46947											
SLC30A1	7779	hgsc.bcm.edu	37	1	211751453	211751453	+	Missense_Mutation	SNP	T	T	C			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr1:211751453T>C	ENST00000367001.4	-	1	631	c.502A>G	c.(502-504)Acc>Gcc	p.T168A		NM_021194.2	NP_067017.2	Q9Y6M5	ZNT1_HUMAN	solute carrier family 30 (zinc transporter), member 1	168					cadmium ion transmembrane transport (GO:0070574)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|cellular zinc ion homeostasis (GO:0006882)|detoxification of cadmium ion (GO:0071585)|in utero embryonic development (GO:0001701)|negative regulation of calcium ion import (GO:0090281)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of zinc ion transmembrane import (GO:0071584)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)	calcium channel inhibitor activity (GO:0019855)|zinc ion transmembrane transporter activity (GO:0005385)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(3)|prostate(1)	11				OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978)		CCGGGGCGGGTGCTCTTAACG	0.701																																																0													17	20	19					1																	211751453		2198	4295	6493	SO:0001583	missense	7779			AF323590	CCDS1499.1	1q32.3	2013-05-22			ENSG00000170385	ENSG00000170385		"Solute carriers"	11012	protein-coding gene	gene with protein product		609521		ZNT1			Standard	NM_021194		Approved	ZRC1	uc001hio.1	Q9Y6M5	OTTHUMG00000036995	ENST00000367001.4:c.502A>G	chr1.hg19:g.211751453T>C	ENSP00000355968:p.Thr168Ala		Q0VAK9|Q9BZF6	Missense_Mutation	SNP	ENST00000367001.4	hg19	CCDS1499.1	.	.	.	.	.	.	.	.	.	.	T	7.932	0.740859	0.15642	.	.	ENSG00000170385	ENST00000367001	T	0.63255	-0.03	4.13	-5.39	0.02664	.	3.281300	0.00751	N	0.001077	T	0.28732	0.0712	N	0.01242	-0.935	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39860	-0.9593	10	0.08837	T	0.75	1.0089	9.0099	0.36135	0.0:0.5305:0.2346:0.2349	.	168	Q9Y6M5	ZNT1_HUMAN	A	168	ENSP00000355968:T168A	ENSP00000355968:T168A	T	-	1	0	SLC30A1	209818076	0.000000	0.05858	0.004000	0.12327	0.024000	0.10985	-1.009000	0.03660	-0.892000	0.03935	-0.624000	0.04008	ACC		0.701	SLC30A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104738.2			C	211751453	T	C	211751453	3	2	790	1	0	0	0	0	1	0	0	0	14559	1696	59	3	1029	3	SLC30A1	1	211751453	Missense_Mutation	SNP	T	TCGA-SX-A7SN-01A-11D-A34Z-10	1741080	211751453	37499168	13	46948											
NSL1	25936	hgsc.bcm.edu	37	1	212960912	212960912	+	Missense_Mutation	SNP	T	T	C			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr1:212960912T>C	ENST00000366977.3	-	2	320	c.302A>G	c.(301-303)aAt>aGt	p.N101S	NSL1_ENST00000366975.6_Missense_Mutation_p.N101S|NSL1_ENST00000366976.1_Missense_Mutation_p.N101S|NSL1_ENST00000473995.1_5'UTR|NSL1_ENST00000422588.2_Missense_Mutation_p.N101S|NSL1_ENST00000366978.1_5'UTR	NM_015471.3	NP_056286.3	Q96IY1	NSL1_HUMAN	NSL1, MIS12 kinetochore complex component	101					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)		CATAAAACAATTATCTGAAGC	0.328																																																0													86	84	85					1																	212960912		2203	4300	6503	SO:0001583	missense	25936			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.302A>G	chr1.hg19:g.212960912T>C	ENSP00000355944:p.Asn101Ser		E7ETD5|Q5SY75|Q9H2M5|Q9NRN8|Q9Y415	Missense_Mutation	SNP	ENST00000366977.3	hg19	CCDS1509.1	.	.	.	.	.	.	.	.	.	.	T	2.442	-0.328274	0.05314	.	.	ENSG00000117697	ENST00000366977;ENST00000422588;ENST00000366975;ENST00000366976	T;T;T;T	0.43688	1.56;0.94;1.61;0.97	4.7	2.37	0.29283	.	0.833602	0.11159	N	0.593288	T	0.18509	0.0444	N	0.03115	-0.41	0.09310	N	1	B;B;B	0.14438	0.003;0.003;0.01	B;B;B	0.17098	0.008;0.008;0.017	T	0.29027	-1.0025	10	0.21014	T	0.42	-0.3034	6.3421	0.21328	0.0:0.2038:0.0:0.7962	.	101;101;101	B4E071;Q96IY1;E7ETD5	.;NSL1_HUMAN;.	S	101	ENSP00000355944:N101S;ENSP00000388406:N101S;ENSP00000355942:N101S;ENSP00000355943:N101S	ENSP00000355942:N101S	N	-	2	0	NSL1	211027535	0.000000	0.05858	0.002000	0.10522	0.953000	0.61014	-0.221000	0.09202	0.263000	0.21812	0.533000	0.62120	AAT		0.328	NSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089398.2	NM_015471		C	212960912	T	C	212960912	3	2	790	1	0	0	0	0	1	0	0	0	10675	1493	52	3	652	3	NSL1	1	212960912	Missense_Mutation	SNP	T	TCGA-SX-A7SN-01A-11D-A34Z-10	1209459	212960912	36289709	14	46949											
GRHL1	29841	hgsc.bcm.edu	37	2	10140748	10140748	+	Silent	SNP	T	T	C			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr2:10140748T>C	ENST00000324907.9	+	16	1906	c.1770T>C	c.(1768-1770)atT>atC	p.I590I	GRHL1_ENST00000324883.5_Silent_p.I401I|GRHL1_ENST00000480736.1_Silent_p.I44I|AC010969.1_ENST00000340444.1_RNA|GRHL1_ENST00000405379.2_Silent_p.I590I	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	590					cellular lipid metabolic process (GO:0044255)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		ACGACAACATTGTGAAGCATT	0.542																																																0													209	212	211					2																	10140748		2203	4300	6503	SO:0001819	synonymous_variant	29841			AF198489	CCDS33144.1, CCDS33144.2	2p25.2	2008-02-05	2005-07-11	2005-07-11	ENSG00000134317	ENSG00000134317			17923	protein-coding gene	gene with protein product		609786	"transcription factor CP2-like 2"	TFCP2L2		10644752, 12393799	Standard	NM_198182		Approved	LBP-32, MGR	uc002raa.3	Q9NZI5	OTTHUMG00000151704	ENST00000324907.9:c.1770T>C	chr2.hg19:g.10140748T>C			A6NLA4|B2R7E4|B5MEC2|Q53T93|Q6NWN7|Q6NWN8|Q6NWN9|Q8NI33	Silent	SNP	ENST00000324907.9	hg19	CCDS33144.2																																																																																				0.542	GRHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323543.2	NM_014552		C	10140748	T	C	10140748	2	2	790	1	0	0	0	0	0	0	0	1	6765	1800	63	3		3	GRHL1	2	10140748	Silent	SNP	T	TCGA-SX-A7SN-01A-11D-A34Z-10		10140748	233058625	15	46950											
NBAS	51594	hgsc.bcm.edu	37	2	15415752	15415752	+	Silent	SNP	A	A	T			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr2:15415752A>T	ENST00000281513.5	-	44	5605	c.5580T>A	c.(5578-5580)ccT>ccA	p.P1860P	NBAS_ENST00000441750.1_Silent_p.P1740P	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1860					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)		p.P1860P(1)		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						TAATGAGATGAGGGTCTCCAG	0.483																																																1	Substitution - coding silent(1)	large_intestine(1)											109	107	108					2																	15415752		2203	4300	6503	SO:0001819	synonymous_variant	51594			BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.5580T>A	chr2.hg19:g.15415752A>T			O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Silent	SNP	ENST00000281513.5	hg19	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	A	10.35	1.327219	0.24080	.	.	ENSG00000151779	ENST00000442506	.	.	.	5.57	1.78	0.24846	.	.	.	.	.	T	0.53867	0.1823	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44050	-0.9353	4	.	.	.	.	6.1768	0.20449	0.574:0.3101:0.1159:0.0	.	.	.	.	H	908	.	.	L	-	2	0	NBAS	15333203	0.802000	0.28943	1.000000	0.80357	0.972000	0.66771	-0.088000	0.11198	0.457000	0.26962	0.482000	0.46254	CTC		0.483	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		T	15415752	A	T	15415752	2	4	790	1	0	0	0	0	0	0	0	1	10188	291	11	5		5	NBAS	2	15415752	Silent	SNP	A	TCGA-SX-A7SN-01A-11D-A34Z-10	5275004	15415752	227783621	16	46951											
SMC6	79677	hgsc.bcm.edu	37	2	17881504	17881504	+	Nonsense_Mutation	SNP	G	G	A			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr2:17881504G>A	ENST00000448223.2	-	21	2634	c.2365C>T	c.(2365-2367)Caa>Taa	p.Q789*	SMC6_ENST00000351948.4_Nonsense_Mutation_p.Q789*|SMC6_ENST00000402989.1_Nonsense_Mutation_p.Q789*|SMC6_ENST00000381272.4_Nonsense_Mutation_p.Q815*	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	789					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TCCGATAGTTGATTAATTTTG	0.303																																																0													144	140	141					2																	17881504		2202	4296	6498	SO:0001587	stop_gained	79677			AJ310551	CCDS1690.1	2p24.3	2008-02-05	2006-07-06	2006-07-06	ENSG00000163029	ENSG00000163029		"Structural maintenance of chromosomes proteins"	20466	protein-coding gene	gene with protein product		609387	"SMC6 structural maintenance of chromosomes 6-like 1 (yeast)"	SMC6L1		11230166	Standard	NM_024624		Approved	FLJ22116	uc002rcn.3	Q96SB8	OTTHUMG00000090675	ENST00000448223.2:c.2365C>T	chr2.hg19:g.17881504G>A	ENSP00000404092:p.Gln789*		A8K8Q6|D6W518|Q05BV4|Q9H0X3|Q9H6M0	Nonsense_Mutation	SNP	ENST00000448223.2	hg19	CCDS1690.1	.	.	.	.	.	.	.	.	.	.	G	41	8.532883	0.98852	.	.	ENSG00000163029	ENST00000448223;ENST00000351948;ENST00000381272;ENST00000402989	.	.	.	5.0	5.0	0.66597	.	0.577318	0.18021	N	0.154256	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	11.8172	0.52218	0.0818:0.0:0.9182:0.0	.	.	.	.	X	789;789;815;789	.	ENSP00000323439:Q789X	Q	-	1	0	SMC6	17744985	1.000000	0.71417	0.987000	0.45799	0.865000	0.49528	4.865000	0.62998	2.520000	0.84964	0.585000	0.79938	CAA		0.303	SMC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207359.1	NM_024624		A	17881504	G	A	17881504	4	1	790	1	0	0	0	0	0	1	0	0	14793	1299	45	2	942	2	SMC6	2	17881504	Nonsense_Mutation	SNP	G	TCGA-SX-A7SN-01A-11D-A34Z-10	2465752	17881504	225317869	17	46952											
SRBD1	55133	hgsc.bcm.edu	37	2	45645662	45645662	+	Missense_Mutation	SNP	A	A	C			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr2:45645662A>C	ENST00000263736.4	-	18	2237	c.2175T>G	c.(2173-2175)aaT>aaG	p.N725K	SRBD1_ENST00000490133.1_5'UTR|SRBD1_ENST00000535761.1_Missense_Mutation_p.N244K	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	725					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)			CCCTGTTGGCATTGAGTCCTG	0.363																																																0													153	110	125					2																	45645662		2203	4300	6503	SO:0001583	missense	55133			AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.2175T>G	chr2.hg19:g.45645662A>C	ENSP00000263736:p.Asn725Lys		Q53T56|Q96TA4|Q9NW11	Missense_Mutation	SNP	ENST00000263736.4	hg19	CCDS1823.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.073946	0.76415	.	.	ENSG00000068784	ENST00000263736;ENST00000535761	T;T	0.32515	1.78;1.45	5.86	3.53	0.40419	Tex RuvX-like domain (1);	0.000000	0.85682	D	0.000000	T	0.40839	0.1133	L	0.49699	1.58	0.54753	D	0.999984	D	0.54397	0.966	P	0.56865	0.808	T	0.28522	-1.0041	10	0.87932	D	0	.	9.8085	0.40808	0.8618:0.0:0.1382:0.0	.	725	Q8N5C6	SRBD1_HUMAN	K	725;244	ENSP00000263736:N725K;ENSP00000441272:N244K	ENSP00000263736:N725K	N	-	3	2	SRBD1	45499166	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.102000	0.57776	1.061000	0.40601	0.524000	0.50904	AAT		0.363	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250747.3	NM_018079		C	45645662	A	C	45645662	3	2	790	1	0	0	0	0	1	0	0	0	15138	214	8	5	828	5	SRBD1	2	45645662	Missense_Mutation	SNP	A	TCGA-SX-A7SN-01A-11D-A34Z-10	27764158	45645662	197553711	18	46953											
SPTBN1	6711	hgsc.bcm.edu	37	2	54874386	54874386	+	Missense_Mutation	SNP	G	G	C	rs200274009		TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr2:54874386G>C	ENST00000356805.4	+	24	5266	c.4985G>C	c.(4984-4986)aGc>aCc	p.S1662T	SPTBN1_ENST00000333896.5_Missense_Mutation_p.S1649T	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1662	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)			GTGGCCGACAGCCATCCTGAA	0.542																																																0													77	79	78					2																	54874386		2203	4300	6503	SO:0001583	missense	6711				CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"Pleckstrin homology (PH) domain containing"	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.4985G>C	chr2.hg19:g.54874386G>C	ENSP00000349259:p.Ser1662Thr		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	hg19	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.893188	0.52121	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	T;T	0.67523	-0.27;0.71	5.66	4.68	0.58851	.	0.333582	0.36167	N	0.002746	T	0.49830	0.1580	N	0.24115	0.695	0.28355	N	0.920718	B;B	0.19935	0.032;0.04	B;B	0.25614	0.062;0.045	T	0.42799	-0.9430	10	0.52906	T	0.07	.	6.8223	0.23864	0.2001:0.0:0.7999:0.0	.	1649;1662	Q01082-3;Q01082	.;SPTB2_HUMAN	T	1662;1649	ENSP00000349259:S1662T;ENSP00000334156:S1649T	ENSP00000334156:S1649T	S	+	2	0	SPTBN1	54727890	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.003000	0.49505	2.689000	0.91719	0.591000	0.81541	AGC		0.542	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			C	54874386	G	C	54874386	3	2	790	1	0	0	0	0	1	0	0	0	15124	971	34	4	5188	4	SPTBN1	2	54874386	Missense_Mutation	SNP	G	TCGA-SX-A7SN-01A-11D-A34Z-10	9228724	54874386	188324987	19	46954											
SLC9A4	389015	hgsc.bcm.edu	37	2	103120119	103120119	+	Frame_Shift_Del	DEL	T	T	-			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr2:103120119delT	ENST00000295269.4	+	3	1390	c.933delT	c.(931-933)tatfs	p.Y311fs		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	311					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						TGTTCAGCTATTTGTCTTACT	0.393																																																0													199	186	190					2																	103120119		2203	4300	6503	SO:0001589	frameshift_variant	389015				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.933delT	chr2.hg19:g.103120119delT	ENSP00000295269:p.Tyr311fs		Q69YK0	Frame_Shift_Del	DEL	ENST00000295269.4	hg19	CCDS33264.1																																																																																				0.393	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3		-	103120119	T	-	103120119	7	5	790	1	0	1	0	1	0	0	0	0	14722	1500	52	0	943	0	SLC9A4	2	103120119	Frame_Shift_Del	DEL	T	TCGA-SX-A7SN-01A-11D-A34Z-10	48245733	103120119	140079254	20	46955											
FAM128B	80097	hgsc.bcm.edu	37	2	130948157	130948157	+	Frame_Shift_Del	DEL	G	G	-	rs543965632	byFrequency	TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr2:130948157delG	ENST00000281871.6	+	3	790	c.435delG	c.(433-435)aagfs	p.K145fs	MZT2B_ENST00000409255.1_Frame_Shift_Del_p.K205fs	NM_025029.3	NP_079305.2	Q6NZ67	MZT2B_HUMAN	mitotic spindle organizing protein 2B	145						centrosome (GO:0005813)|gamma-tubulin ring complex (GO:0008274)|spindle (GO:0005819)				lung(1)	1						GGCTGCCCAAGGGGGGCGGGC	0.657																																																0													35	41	39					2																	130948157		2192	4293	6485	SO:0001589	frameshift_variant	80097			BC066296	CCDS2157.1	2q21.1	2013-10-11	2010-07-22	2010-07-22	ENSG00000152082	ENSG00000152082			25886	protein-coding gene	gene with protein product	"mitotic-spindle organizing protein associated with a ring of gamma-tubulin 2B"	613450	"family with sequence similarity 128, member B"	FAM128B		20360068	Standard	NM_025029		Approved	FLJ14346, MOZART2B	uc002tqu.3	Q6NZ67	OTTHUMG00000131625	ENST00000281871.6:c.435delG	chr2.hg19:g.130948157delG	ENSP00000281871:p.Lys145fs		Q96CG4	Frame_Shift_Del	DEL	ENST00000281871.6	hg19	CCDS2157.1																																																																																				0.657	MZT2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254518.1	NM_025029		-	130948157	G	-	130948157	7	5	790	1	0	1	0	1	0	0	0	0	5437	991	35	0	445	0	FAM128B	2	130948157	Frame_Shift_Del	DEL	G	TCGA-SX-A7SN-01A-11D-A34Z-10	27828038	130948157	112251216	21	46956											
ITGA6	3655	hgsc.bcm.edu	37	2	173349951	173349951	+	Missense_Mutation	SNP	C	C	T			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr2:173349951C>T	ENST00000264106.6	+	14	2133	c.1930C>T	c.(1930-1932)Cca>Tca	p.P644S	ITGA6_ENST00000375221.2_Missense_Mutation_p.P644S|AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000409532.1_Missense_Mutation_p.P486S|ITGA6_ENST00000343713.4_Missense_Mutation_p.P600S|ITGA6_ENST00000409080.1_Missense_Mutation_p.P605S|ITGA6_ENST00000264107.7_Missense_Mutation_p.P605S			P23229	ITA6_HUMAN	integrin, alpha 6	644					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			AGAAGTTCTTCCAATTCTGAA	0.403																																																0													95	96	96					2																	173349951		2203	4300	6503	SO:0001583	missense	3655				CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"CD molecules", "Integrins"	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.1930C>T	chr2.hg19:g.173349951C>T	ENSP00000264106:p.Pro644Ser		B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Missense_Mutation	SNP	ENST00000264106.6	hg19		.	.	.	.	.	.	.	.	.	.	C	26.4	4.729408	0.89390	.	.	ENSG00000091409	ENST00000409532;ENST00000264107;ENST00000264106;ENST00000375221;ENST00000343713;ENST00000409080;ENST00000442250;ENST00000458358	T;T;T;T;T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	D	0.90504	0.7025	M	0.89904	3.07	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	0.92409	0.5936	10	0.87932	D	0	.	18.4111	0.90550	0.0:1.0:0.0:0.0	.	600;644;605;605	P23229-4;P23229-9;G5E9H1;P23229-2	.;.;.;.	S	486;605;644;644;600;605;644;600	ENSP00000386614:P486S;ENSP00000264107:P605S;ENSP00000264106:P644S;ENSP00000364369:P644S;ENSP00000341078:P600S;ENSP00000386896:P605S;ENSP00000406694:P644S;ENSP00000394169:P600S	ENSP00000264106:P644S	P	+	1	0	ITGA6	173058197	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.497000	0.73674	2.437000	0.82529	0.655000	0.94253	CCA		0.403	ITGA6-201	KNOWN	basic	protein_coding	protein_coding				T	173349951	C	T	173349951	3	4	790	1	0	0	0	0	1	0	0	0	7882	855	30	2	1863	2	ITGA6	2	173349951	Missense_Mutation	SNP	C	TCGA-SX-A7SN-01A-11D-A34Z-10	42401794	173349951	69849422	22	46957											
NAB1	4664	hgsc.bcm.edu	37	2	191524460	191524460	+	Missense_Mutation	SNP	G	G	T			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr2:191524460G>T	ENST00000337386.5	+	4	1019	c.558G>T	c.(556-558)gaG>gaT	p.E186D	NAB1_ENST00000357215.5_Missense_Mutation_p.E186D|NAB1_ENST00000409581.1_Missense_Mutation_p.E186D|NAB1_ENST00000545490.1_5'Flank|NAB1_ENST00000409641.1_Missense_Mutation_p.E186D	NM_005966.3	NP_005957.2	Q13506	NAB1_HUMAN	NGFI-A binding protein 1 (EGR1 binding protein 1)	186					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)			CCCCAAAGGAGAGCAGTGAGG	0.607																																																0													32	33	33					2																	191524460		2203	4300	6503	SO:0001583	missense	4664				CCDS2307.1	2q32.3-q33	2008-05-23			ENSG00000138386	ENSG00000138386			7626	protein-coding gene	gene with protein product	"EGR1 binding protein 1"	600800				7624335, 8668170, 9418898	Standard	XM_005246579		Approved		uc002usb.3	Q13506	OTTHUMG00000132689	ENST00000337386.5:c.558G>T	chr2.hg19:g.191524460G>T	ENSP00000336894:p.Glu186Asp		O75383|O75384|Q6GTU1|Q9UEV1	Missense_Mutation	SNP	ENST00000337386.5	hg19	CCDS2307.1	.	.	.	.	.	.	.	.	.	.	G	6.327	0.428405	0.11987	.	.	ENSG00000138386	ENST00000409581;ENST00000337386;ENST00000357215;ENST00000409641	.	.	.	5.51	-7.42	0.01388	NAB co-repressor, domain (1);	0.097440	0.64402	N	0.000001	T	0.12603	0.0306	N	0.01800	-0.715	0.80722	D	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.10450	0.004;0.005;0.005	T	0.20706	-1.0267	9	0.12766	T	0.61	-13.235	6.2518	0.20850	0.2258:0.0931:0.4985:0.1826	.	186;186;186	F8W8J7;B8ZZS2;Q13506	.;.;NAB1_HUMAN	D	186	.	ENSP00000336894:E186D	E	+	3	2	NAB1	191232705	0.012000	0.17670	0.740000	0.30986	0.983000	0.72400	-0.752000	0.04797	-1.363000	0.02164	-0.367000	0.07326	GAG		0.607	NAB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255986.1	NM_005966		T	191524460	G	T	191524460	3	4	790	1	0	0	0	0	1	0	0	0	10133	933	33	4	560	4	NAB1	2	191524460	Missense_Mutation	SNP	G	TCGA-SX-A7SN-01A-11D-A34Z-10	18174509	191524460	51674913	23	46958											
TMBIM1	64114	hgsc.bcm.edu	37	2	219140208	219140208	+	Missense_Mutation	SNP	T	T	C			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr2:219140208T>C	ENST00000444881.1	-	13	1651	c.926A>G	c.(925-927)gAt>gGt	p.D309G	PNKD_ENST00000273077.4_Intron|TMBIM1_ENST00000396809.2_Missense_Mutation_p.D309G|TMBIM1_ENST00000445635.1_Missense_Mutation_p.D135G|PNKD_ENST00000472650.1_Intron|TMBIM1_ENST00000258412.3_Missense_Mutation_p.D309G			Q969X1	LFG3_HUMAN	transmembrane BAX inhibitor motif containing 1	309					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of Fas signaling pathway (GO:1902045)|negative regulation of metalloenzyme activity (GO:0048553)|positive regulation of blood vessel remodeling (GO:2000504)	endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	death receptor binding (GO:0005123)			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)	9		Renal(207;0.0474)		Epithelial(149;8.56e-07)|all cancers(144;0.000154)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTAATTGCGATCCCCCATCAG	0.567																																																0													141	127	132					2																	219140208		2203	4300	6503	SO:0001583	missense	64114			BN000408	CCDS2412.1	2q35	2010-03-18			ENSG00000135926	ENSG00000135926			23410	protein-coding gene	gene with protein product		610364				12477932	Standard	NM_022152		Approved	PP1201, RECS1, LFG3	uc002vhp.1	Q969X1	OTTHUMG00000133105	ENST00000444881.1:c.926A>G	chr2.hg19:g.219140208T>C	ENSP00000409738:p.Asp309Gly		B3KQY6|Q8N1R3|Q8TAM3|Q96K13	Missense_Mutation	SNP	ENST00000444881.1	hg19	CCDS2412.1	.	.	.	.	.	.	.	.	.	.	T	13.44	2.238335	0.39598	.	.	ENSG00000135926	ENST00000258412;ENST00000444881;ENST00000396809;ENST00000445635;ENST00000543441	T;T;T	0.22945	1.93;1.93;1.93	5.28	-0.281	0.12882	.	1.212450	0.05241	N	0.512237	T	0.12603	0.0306	N	0.04787	-0.16	0.09310	N	1	B;B	0.17465	0.022;0.001	B;B	0.14023	0.01;0.001	T	0.29427	-1.0012	10	0.33141	T	0.24	-0.4623	6.4147	0.21710	0.0:0.4821:0.1591:0.3587	.	247;309	B4DNZ1;Q969X1	.;TMBI1_HUMAN	G	309;309;309;135;247	ENSP00000258412:D309G;ENSP00000409738:D309G;ENSP00000380025:D309G	ENSP00000258412:D309G	D	-	2	0	TMBIM1	218848452	0.000000	0.05858	0.003000	0.11579	0.968000	0.65278	-0.049000	0.11924	-0.168000	0.10853	0.533000	0.62120	GAT		0.567	TMBIM1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338559.1	NM_022152		C	219140208	T	C	219140208	3	2	790	1	0	0	0	0	1	0	0	0	15986	1435	50	3	13	3	TMBIM1	2	219140208	Missense_Mutation	SNP	T	TCGA-SX-A7SN-01A-11D-A34Z-10	27615748	219140208	24059165	24	46959											
TRIP12	9320	hgsc.bcm.edu	37	2	230659907	230659907	+	Missense_Mutation	SNP	C	C	T			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr2:230659907C>T	ENST00000283943.5	-	25	3909	c.3731G>A	c.(3730-3732)gGg>gAg	p.G1244E	TRIP12_ENST00000389044.4_Missense_Mutation_p.G1292E|TRIP12_ENST00000389045.3_Missense_Mutation_p.G974E	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1244					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)		GCCTCCTGTCCCATTTCCACT	0.448																																																0													126	113	118					2																	230659907		2203	4300	6503	SO:0001583	missense	9320			L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.3731G>A	chr2.hg19:g.230659907C>T	ENSP00000283943:p.Gly1244Glu		D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	hg19	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.034386	0.93575	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	T;T;T	0.50277	0.76;1.12;0.75	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.67144	0.2862	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.963;0.996	T	0.67356	-0.5691	10	0.72032	D	0.01	.	19.9433	0.97172	0.0:1.0:0.0:0.0	.	974;1292;1244	Q14CF1;Q14CA3;Q14669	.;.;TRIPC_HUMAN	E	1244;974;1292	ENSP00000283943:G1244E;ENSP00000373697:G974E;ENSP00000373696:G1292E	ENSP00000283943:G1244E	G	-	2	0	TRIP12	230368151	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.365000	0.79537	2.716000	0.92895	0.655000	0.94253	GGG		0.448	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		T	230659907	C	T	230659907	3	4	790	1	0	0	0	0	1	0	0	0	16561	623	22	2	2315	2	TRIP12	2	230659907	Missense_Mutation	SNP	C	TCGA-SX-A7SN-01A-11D-A34Z-10	11519699	230659907	12539466	25	46960											
KLHL30	377007	hgsc.bcm.edu	37	2	239057702	239057702	+	Missense_Mutation	SNP	G	G	C			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr2:239057702G>C	ENST00000409223.1	+	7	1501	c.1394G>C	c.(1393-1395)cGc>cCc	p.R465P	KLHL30_ENST00000305959.4_Missense_Mutation_p.R447P			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	465										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)		TCCTCGCCTCGCTGTGCTGCA	0.652																																																0													74	89	84					2																	239057702		2165	4251	6416	SO:0001583	missense	377007				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.1394G>C	chr2.hg19:g.239057702G>C	ENSP00000386389:p.Arg465Pro		Q6ZUS1	Missense_Mutation	SNP	ENST00000409223.1	hg19	CCDS46555.2	.	.	.	.	.	.	.	.	.	.	G	17.74	3.464502	0.63513	.	.	ENSG00000168427	ENST00000409223;ENST00000305959	T;T	0.65549	-0.16;-0.16	4.49	4.49	0.54785	Kelch-type beta propeller (1);	0.059738	0.64402	D	0.000002	T	0.70307	0.3209	L	0.38531	1.155	0.54753	D	0.999985	D	0.76494	0.999	D	0.68353	0.957	T	0.73861	-0.3849	10	0.66056	D	0.02	.	16.0887	0.81076	0.0:0.0:1.0:0.0	.	465	Q0D2K2	KLH30_HUMAN	P	465;447	ENSP00000386389:R465P;ENSP00000302386:R447P	ENSP00000302386:R447P	R	+	2	0	KLHL30	238722441	1.000000	0.71417	0.988000	0.46212	0.189000	0.23516	9.102000	0.94226	2.327000	0.79052	0.491000	0.48974	CGC		0.652	KLHL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328518.1	NM_198582		C	239057702	G	C	239057702	3	2	790	1	0	0	0	0	1	0	0	0	8386	1087	38	4	1416	4	KLHL30	2	239057702	Missense_Mutation	SNP	G	TCGA-SX-A7SN-01A-11D-A34Z-10	8397795	239057702	4141671	26	46961											
XYLB	9942	hgsc.bcm.edu	37	3	38408332	38408332	+	Missense_Mutation	SNP	C	C	A			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr3:38408332C>A	ENST00000207870.3	+	7	631	c.541C>A	c.(541-543)Cag>Aag	p.Q181K	XYLB_ENST00000542835.1_Missense_Mutation_p.Q44K	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)	181					carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|D-xylose metabolic process (GO:0042732)|generation of precursor metabolites and energy (GO:0006091)|xylulose catabolic process (GO:0005998)|xylulose metabolic process (GO:0005997)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|xylulokinase activity (GO:0004856)			endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		AAAAATTTACCAGCAGAACCC	0.368																																																0													85	86	86					3																	38408332		2203	4300	6503	SO:0001583	missense	9942			AB015046	CCDS2678.1	3p22-p21.3	2006-12-18	2001-12-04		ENSG00000093217	ENSG00000093217			12839	protein-coding gene	gene with protein product		604049	"xylulokinase (H. influenzae) homolog"			9763671	Standard	NM_005108		Approved	FLJ10343, FLJ12539	uc003cic.2	O75191	OTTHUMG00000131294	ENST00000207870.3:c.541C>A	chr3.hg19:g.38408332C>A	ENSP00000207870:p.Gln181Lys		B2RAW4|B4DDT2|B9EH64	Missense_Mutation	SNP	ENST00000207870.3	hg19	CCDS2678.1	.	.	.	.	.	.	.	.	.	.	c	14.24	2.475111	0.43942	.	.	ENSG00000093217	ENST00000207870;ENST00000542835	T;T	0.16073	2.37;2.37	5.43	4.44	0.53790	Carbohydrate kinase, FGGY, N-terminal (1);	0.472911	0.23189	N	0.050929	T	0.11537	0.0281	N	0.21194	0.64	0.25694	N	0.98565	B;B	0.14012	0.009;0.0	B;B	0.21151	0.033;0.02	T	0.19516	-1.0303	10	0.15066	T	0.55	.	12.751	0.57308	0.1976:0.8024:0.0:0.0	.	44;181	B4DDT2;O75191	.;XYLB_HUMAN	K	181;44	ENSP00000207870:Q181K;ENSP00000443659:Q44K	ENSP00000207870:Q181K	Q	+	1	0	XYLB	38383336	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.763000	0.38461	2.727000	0.93392	0.550000	0.68814	CAG		0.368	XYLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254062.2	NM_005108		A	38408332	C	A	38408332	3	1	790	1	0	0	0	0	1	0	0	0	17467	595	21	4	567	4	XYLB	3	38408332	Missense_Mutation	SNP	C	TCGA-SX-A7SN-01A-11D-A34Z-10		38408332	159614098	27	46962											
QRICH1	54870	hgsc.bcm.edu	37	3	49114324	49114324	+	Nonsense_Mutation	SNP	G	G	A			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr3:49114324G>A	ENST00000395443.2	-	2	599	c.127C>T	c.(127-129)Cag>Tag	p.Q43*	QRICH1_ENST00000424300.1_Nonsense_Mutation_p.Q43*|QRICH1_ENST00000357496.2_Nonsense_Mutation_p.Q43*	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	43	CARD.					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)		TGGAACTCCTGAAGGGCTTCT	0.527																																																0													124	115	118					3																	49114324		2203	4300	6503	SO:0001587	stop_gained	54870				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.127C>T	chr3.hg19:g.49114324G>A	ENSP00000378830:p.Gln43*		Q4G0F7|Q7L621|Q8TEA5	Nonsense_Mutation	SNP	ENST00000395443.2	hg19	CCDS2787.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.708717	0.68615	.	.	ENSG00000198218	ENST00000395443;ENST00000357496;ENST00000424300;ENST00000437939;ENST00000450685;ENST00000411682;ENST00000430979	.	.	.	5.62	5.62	0.85841	.	0.055405	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-2.293	19.653	0.95825	0.0:0.0:1.0:0.0	.	.	.	.	X	43	.	ENSP00000350094:Q43X	Q	-	1	0	QRICH1	49089328	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.658000	0.90341	0.655000	0.94253	CAG		0.527	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730		A	49114324	G	A	49114324	4	1	790	1	0	0	0	0	0	1	0	0	12885	1299	45	2	2239	2	QRICH1	3	49114324	Nonsense_Mutation	SNP	G	TCGA-SX-A7SN-01A-11D-A34Z-10	10705992	49114324	148908106	28	46963											
CHST13	166012	hgsc.bcm.edu	37	3	126260730	126260730	+	Missense_Mutation	SNP	T	T	C			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr3:126260730T>C	ENST00000319340.2	+	3	385	c.335T>C	c.(334-336)gTg>gCg	p.V112A		NM_152889.2	NP_690849.1	Q8NET6	CHSTD_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 13	112					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)		TACTGCTACGTGCCCAAGGTG	0.721																																																0													28	20	22					3																	126260730		2194	4286	6480	SO:0001583	missense	166012			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.335T>C	chr3.hg19:g.126260730T>C	ENSP00000317404:p.Val112Ala		Q3SYA3|Q3SYA5	Missense_Mutation	SNP	ENST00000319340.2	hg19	CCDS3039.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.770907	0.90108	.	.	ENSG00000180767	ENST00000319340;ENST00000383575	D	0.82344	-1.6	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	D	0.92635	0.7660	M	0.93854	3.465	0.80722	D	1	D	0.71674	0.998	D	0.76575	0.988	D	0.93994	0.7269	10	0.72032	D	0.01	-9.0677	12.3582	0.55188	0.0:0.0:0.0:1.0	.	112	Q8NET6	CHSTD_HUMAN	A	112	ENSP00000317404:V112A	ENSP00000317404:V112A	V	+	2	0	CHST13	127743420	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.670000	0.83925	1.806000	0.52798	0.402000	0.26972	GTG		0.721	CHST13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370201.2	NM_152889		C	126260730	T	C	126260730	3	2	790	1	0	0	0	0	1	0	0	0	3403	1696	59	3	345	3	CHST13	3	126260730	Missense_Mutation	SNP	T	TCGA-SX-A7SN-01A-11D-A34Z-10	77146406	126260730	71761700	29	46964											
WDFY3	23001	hgsc.bcm.edu	37	4	85758174	85758174	+	Missense_Mutation	SNP	C	C	G			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr4:85758174C>G	ENST00000295888.4	-	7	891	c.484G>C	c.(484-486)Gac>Cac	p.D162H	WDFY3_ENST00000322366.6_Missense_Mutation_p.D162H	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	162					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)		TGTGGAAGGTCAAAAAACAGA	0.428																																																0													87	78	81					4																	85758174		2203	4300	6503	SO:0001583	missense	23001			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.484G>C	chr4.hg19:g.85758174C>G	ENSP00000295888:p.Asp162His		Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	hg19	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.579583	0.86645	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.27104	1.69;1.69	5.76	4.91	0.64330	.	0.193997	0.52532	D	0.000064	T	0.53465	0.1798	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.60500	-0.7251	10	0.87932	D	0	.	16.1206	0.81351	0.1349:0.8651:0.0:0.0	.	162;162	E2QRK8;Q8IZQ1	.;WDFY3_HUMAN	H	162	ENSP00000318466:D162H;ENSP00000295888:D162H	ENSP00000295888:D162H	D	-	1	0	WDFY3	85977198	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.666000	0.83877	1.406000	0.46857	0.455000	0.32223	GAC		0.428	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		G	85758174	C	G	85758174	3	3	790	1	0	0	0	0	1	0	0	0	17275	826	29	4	10387	4	WDFY3	4	85758174	Missense_Mutation	SNP	C	TCGA-SX-A7SN-01A-11D-A34Z-10		85758174	105396102	30	46965											
FHDC1	85462	hgsc.bcm.edu	37	4	153897841	153897841	+	Missense_Mutation	SNP	C	C	T			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr4:153897841C>T	ENST00000511601.1	+	12	3586	c.3398C>T	c.(3397-3399)aCg>aTg	p.T1133M	FHDC1_ENST00000260008.3_Missense_Mutation_p.T1133M			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	1133									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)					AGTCGGACCACGCTGGGGAGA	0.627																																																0													15	13	13					4																	153897841		2191	4282	6473	SO:0001583	missense	85462			AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.3398C>T	chr4.hg19:g.153897841C>T	ENSP00000427567:p.Thr1133Met			Missense_Mutation	SNP	ENST00000511601.1	hg19	CCDS34081.1	.	.	.	.	.	.	.	.	.	.	C	19.21	3.784330	0.70222	.	.	ENSG00000137460	ENST00000511601;ENST00000260008	T;T	0.41758	0.99;0.99	5.39	5.39	0.77823	.	0.362675	0.26727	N	0.022801	T	0.49389	0.1554	L	0.29908	0.895	0.09310	N	0.999998	D	0.76494	0.999	P	0.56088	0.791	T	0.48055	-0.9068	10	0.87932	D	0	.	19.1456	0.93467	0.0:1.0:0.0:0.0	.	1133	Q9C0D6	FHDC1_HUMAN	M	1133	ENSP00000427567:T1133M;ENSP00000260008:T1133M	ENSP00000260008:T1133M	T	+	2	0	FHDC1	154117291	0.102000	0.21896	0.005000	0.12908	0.004000	0.04260	4.146000	0.58072	2.534000	0.85438	0.655000	0.94253	ACG		0.627	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	NM_033393		T	153897841	C	T	153897841	3	4	790	1	0	0	0	0	1	0	0	0	5878	536	19	1	3440	1	FHDC1	4	153897841	Missense_Mutation	SNP	C	TCGA-SX-A7SN-01A-11D-A34Z-10	68139667	153897841	37256435	31	46966											
IQGAP2	10788	hgsc.bcm.edu	37	5	75970433	75970433	+	Silent	SNP	C	C	T			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr5:75970433C>T	ENST00000274364.6	+	27	3723	c.3426C>T	c.(3424-3426)gcC>gcT	p.A1142A	IQGAP2_ENST00000502745.1_Silent_p.A638A|IQGAP2_ENST00000379730.3_Silent_p.A644A|IQGAP2_ENST00000396234.3_Silent_p.A638A	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1142	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)		GATCAGTGGCCAAGGTTCTTC	0.428																																																0													95	89	91					5																	75970433		2203	4300	6503	SO:0001819	synonymous_variant	10788			U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.3426C>T	chr5.hg19:g.75970433C>T			A8K4V1|B7Z8A4|J3KR91	Silent	SNP	ENST00000274364.6	hg19	CCDS34188.1																																																																																				0.428	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633		T	75970433	C	T	75970433	2	4	790	1	0	0	0	0	0	0	0	1	7817	581	21	2		2	IQGAP2	5	75970433	Silent	SNP	C	TCGA-SX-A7SN-01A-11D-A34Z-10		75970433	104944827	32	46967											
FEM1C	56929	hgsc.bcm.edu	37	5	114860103	114860103	+	Silent	SNP	A	A	G			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr5:114860103A>G	ENST00000274457.3	-	3	2317	c.1756T>C	c.(1756-1758)Ttg>Ctg	p.L586L		NM_020177.2	NP_064562.1	Q96JP0	FEM1C_HUMAN	fem-1 homolog c (C. elegans)	586					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(5)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	18		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)		AGACACTGCAATGTGGTATGA	0.363																																																0													98	100	99					5																	114860103		2202	4300	6502	SO:0001819	synonymous_variant	56929				CCDS4118.1	5q22	2013-01-10	2006-11-08		ENSG00000145780	ENSG00000145780		"Ankyrin repeat domain containing"	16933	protein-coding gene	gene with protein product		608767				14527725, 11733146	Standard	NM_020177		Approved	KIAA1785, EUROIMAGE686608, EUROIMAGE783647, FEM1A	uc003krb.1	Q96JP0	OTTHUMG00000128895	ENST00000274457.3:c.1756T>C	chr5.hg19:g.114860103A>G			B2RE47|Q8N3V8|Q9H704|Q9NPL6|Q9NPL9	Silent	SNP	ENST00000274457.3	hg19	CCDS4118.1																																																																																				0.363	FEM1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250857.3	NM_020177		G	114860103	A	G	114860103	2	3	790	1	0	0	0	0	0	0	0	1	5813	98	4	3		3	FEM1C	5	114860103	Silent	SNP	A	TCGA-SX-A7SN-01A-11D-A34Z-10	38889670	114860103	66055157	33	46968											
PCDHA13	56136	hgsc.bcm.edu	37	5	140263609	140263609	+	Missense_Mutation	SNP	G	G	T			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr5:140263609G>T	ENST00000289272.2	+	1	1756	c.1756G>T	c.(1756-1758)Ggt>Tgt	p.G586C	PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.G586C|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	586	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)			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)			GCGGTCGGTGGGTGCAGGCCA	0.697																																					Melanoma(147;1739 1852 5500 27947 37288)											0													57	63	61					5																	140263609		2202	4298	6500	SO:0001583	missense	56136			AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"Cadherins / Protocadherins : Clustered"	8667	other	complex locus constituent	"KIAA0345-like 1", "ortholog of mouse CNR5"	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.1756G>T	chr5.hg19:g.140263609G>T	ENSP00000289272:p.Gly586Cys		O75277	Missense_Mutation	SNP	ENST00000289272.2	hg19	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	G	11.44	1.640074	0.29157	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.20463	2.07;2.07	4.21	4.21	0.49690	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.47229	0.1434	M	0.89414	3.03	0.22947	N	0.998528	D;D;D	0.71674	0.998;0.995;0.994	P;D;D	0.71870	0.886;0.944;0.975	T	0.43245	-0.9403	9	0.72032	D	0.01	.	5.8955	0.18937	0.1033:0.1979:0.6988:0.0	.	586;586;586	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	C	586	ENSP00000386821:G586C;ENSP00000289272:G586C	ENSP00000289272:G586C	G	+	1	0	PCDHA13	140243793	0.000000	0.05858	0.457000	0.27056	0.048000	0.14542	0.017000	0.13399	2.144000	0.66660	0.655000	0.94253	GGT		0.697	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		T	140263609	G	T	140263609	3	4	790	1	0	0	0	0	1	0	0	0	11525	1232	43	4	1758	4	PCDHA13	5	140263609	Missense_Mutation	SNP	G	TCGA-SX-A7SN-01A-11D-A34Z-10	25403506	140263609	40651651	34	46969											
HNRNPAB	85007	hgsc.bcm.edu	37	5	177632987	177632988	+	IGR	INS	-	-	A			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr5:177632987_177632988insA	ENST00000308158.5	-	0	2038				HNRNPAB_ENST00000515193.1_Frame_Shift_Ins_p.K119fs|HNRNPAB_ENST00000504898.1_Frame_Shift_Ins_p.K119fs|HNRNPAB_ENST00000506339.1_Frame_Shift_Ins_p.K119fs|PHYKPL_ENST00000481811.1_5'Flank|HNRNPAB_ENST00000355836.5_Frame_Shift_Ins_p.K119fs|HNRNPAB_ENST00000514633.1_Frame_Shift_Ins_p.K119fs|HNRNPAB_ENST00000506259.1_Frame_Shift_Ins_p.K119fs|HNRNPAB_ENST00000358344.3_Frame_Shift_Ins_p.K119fs	NM_153373.2	NP_699204.1	Q8IUZ5	AT2L2_HUMAN	5-phosphohydroxy-L-lysine phospho-lyase							mitochondrion (GO:0005739)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)									L-Alanine(DB00160)	TTATCCTGTTCAAAGATGCAGC	0.406																																																0																																										SO:0001628	intergenic_variant	3182			BC037567	CCDS4434.1	5q35.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000175309	ENSG00000175309	4.2.3.134		28249	protein-coding gene	gene with protein product	"5-phosphonooxy-L-lysine phospho-lyase"	614683	"alanine-glyoxylate aminotransferase 2-like 2"	AGXT2L2		22241472	Standard	NM_153373		Approved	MGC15875	uc003miz.3	Q8IUZ5	OTTHUMG00000130892		chr5.hg19:g.177632990_177632990dupA			A8K7P6|B3KN36|D3DWP9|Q8WYS6|Q96HW8	Frame_Shift_Ins	INS	ENST00000308158.5	hg19	CCDS4434.1																																																																																				0.406	PHYKPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253477.1	NM_032921		A	177632988	-	A	177632987	6	5	790	0	1	1	1	0	0	0	0	0	7263	825	29	0		0	HNRNPAB	5	177632987	IGR	INS	-	TCGA-SX-A7SN-01A-11D-A34Z-10	37369378	177632987	3282273	35	46970											
CLK4	57396	hgsc.bcm.edu	37	5	178045754	178045754	+	Missense_Mutation	SNP	T	T	C			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr5:178045754T>C	ENST00000316308.4	-	3	355	c.187A>G	c.(187-189)Aat>Gat	p.N63D	RN7SKP70_ENST00000516655.1_RNA|CLK4_ENST00000522749.1_5'UTR	NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	63					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)		TCTCGCTCATTCAAGGACCTT	0.368																																																0													102	95	97					5																	178045754		2203	4300	6503	SO:0001583	missense	57396			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.187A>G	chr5.hg19:g.178045754T>C	ENSP00000316948:p.Asn63Asp			Missense_Mutation	SNP	ENST00000316308.4	hg19	CCDS4437.1	.	.	.	.	.	.	.	.	.	.	T	15.38	2.817846	0.50633	.	.	ENSG00000113240	ENST00000316308;ENST00000536763	T	0.08008	3.14	5.87	4.67	0.58626	.	0.200770	0.51477	D	0.000085	T	0.21761	0.0524	M	0.75447	2.3	0.80722	D	1	P;D;P;D;D	0.69078	0.718;0.997;0.879;0.997;0.997	B;D;P;D;D	0.73380	0.107;0.98;0.482;0.98;0.98	T	0.13019	-1.0525	10	0.18710	T	0.47	.	6.6902	0.23167	0.153:0.0:0.1597:0.6873	.	63;63;63;63;63	B7Z990;B7ZL31;Q4G0Z5;B9EG64;Q9HAZ1	.;.;.;.;CLK4_HUMAN	D	63	ENSP00000316948:N63D	ENSP00000316948:N63D	N	-	1	0	CLK4	177978360	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.188000	0.42612	0.996000	0.38943	0.482000	0.46254	AAT		0.368	CLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253479.2			C	178045754	T	C	178045754	3	2	790	1	0	0	0	0	1	0	0	0	3541	1783	62	3	1302	3	CLK4	5	178045754	Missense_Mutation	SNP	T	TCGA-SX-A7SN-01A-11D-A34Z-10	412767	178045754	2869506	36	46971											
VPS52	6293	hgsc.bcm.edu	37	6	33231610	33231610	+	Frame_Shift_Del	DEL	G	G	-			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr6:33231610delG	ENST00000445902.2	-	16	1885	c.1667delC	c.(1666-1668)tcafs	p.S556fs	VPS52_ENST00000436044.2_Frame_Shift_Del_p.S431fs|VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000482399.1_3'UTR	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	556					ectodermal cell differentiation (GO:0010668)|embryonic ectodermal digestive tract development (GO:0048611)|protein transport (GO:0015031)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						CTCCTTCCTTGAGGAGAACTC	0.512																																																0													75	65	68					6																	33231610		2203	4300	6503	SO:0001589	frameshift_variant	6293			AJ223319	CCDS4770.2	6p21.3	2010-02-17	2006-12-19	2003-09-05	ENSG00000223501	ENSG00000223501			10518	protein-coding gene	gene with protein product		603443	"SAC2 suppressor of actin mutations 2-like (yeast)", "vacuolar protein sorting 52 (yeast)"	SACM2L		9790748	Standard	NM_022553		Approved	ARE1	uc003odm.1	Q8N1B4	OTTHUMG00000031276	ENST00000445902.2:c.1667delC	chr6.hg19:g.33231610delG	ENSP00000409952:p.Ser556fs		A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	Frame_Shift_Del	DEL	ENST00000445902.2	hg19	CCDS4770.2																																																																																				0.512	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076598.2	NM_022553		-	33231610	G	-	33231610	7	5	790	1	0	1	0	1	0	0	0	0	17219	1294	45	0	524	0	VPS52	6	33231610	Frame_Shift_Del	DEL	G	TCGA-SX-A7SN-01A-11D-A34Z-10		33231610	137883457	37	46972											
SLC22A7	10864	hgsc.bcm.edu	37	6	43269967	43269967	+	Missense_Mutation	SNP	T	T	C			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr6:43269967T>C	ENST00000372585.5	+	8	1186	c.1091T>C	c.(1090-1092)cTg>cCg	p.L364P	SLC22A7_ENST00000372574.3_Missense_Mutation_p.L362P|SLC22A7_ENST00000372589.3_Missense_Mutation_p.L362P	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	364					organic anion transport (GO:0015711)|response to stilbenoid (GO:0035634)|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)			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		Acetylsalicylic acid(DB00945)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cimetidine(DB00501)|Clarithromycin(DB01211)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Docetaxel(DB01248)|Enalapril(DB00584)|Erythromycin(DB00199)|Fluorouracil(DB00544)|Ganciclovir(DB01004)|Glyburide(DB01016)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Oxtriphylline(DB01303)|Oxytetracycline(DB00595)|Pravastatin(DB00175)|Probenecid(DB01032)|Rifampicin(DB01045)|Salicylic acid(DB00936)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Valproic Acid(DB00313)|Zalcitabine(DB00943)|Zidovudine(DB00495)	TATTACGGCCTGAGTCTGGAT	0.572																																																0													125	115	118					6																	43269967		2203	4300	6503	SO:0001583	missense	10864			AF097518	CCDS4892.1, CCDS4893.2	6p21.1	2013-05-22			ENSG00000137204	ENSG00000137204		"Solute carriers"	10971	protein-coding gene	gene with protein product		604995				9650585, 10773670	Standard	XM_006714970		Approved	NLT, OAT2	uc003out.3	Q9Y694	OTTHUMG00000014726	ENST00000372585.5:c.1091T>C	chr6.hg19:g.43269967T>C	ENSP00000361666:p.Leu364Pro		B2CZX6|Q5T046|Q5T048|Q5T050|Q9H2W5	Missense_Mutation	SNP	ENST00000372585.5	hg19	CCDS4893.2	.	.	.	.	.	.	.	.	.	.	T	20.4	3.987683	0.74589	.	.	ENSG00000137204	ENST00000372589;ENST00000372585;ENST00000372574;ENST00000436107	T;T;T;T	0.70282	-0.08;-0.08;-0.08;-0.47	5.27	4.08	0.47627	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.280243	0.33092	N	0.005292	T	0.78886	0.4354	M	0.93062	3.375	0.80722	D	1	P;P;P	0.46621	0.881;0.855;0.855	P;P;P	0.56398	0.797;0.694;0.694	T	0.81929	-0.0708	10	0.87932	D	0	.	8.9149	0.35576	0.1813:0.0:0.0:0.8187	.	364;362;362	Q9Y694;Q9Y694-2;Q9Y694-3	S22A7_HUMAN;.;.	P	362;364;362;57	ENSP00000361670:L362P;ENSP00000361666:L364P;ENSP00000361655:L362P;ENSP00000393836:L57P	ENSP00000361655:L362P	L	+	2	0	SLC22A7	43377945	0.987000	0.35691	0.994000	0.49952	0.888000	0.51559	4.148000	0.58085	0.804000	0.34136	0.379000	0.24179	CTG		0.572	SLC22A7-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040588.1			C	43269967	T	C	43269967	3	2	790	1	0	0	0	0	1	0	0	0	14465	1580	55	3	1117	3	SLC22A7	6	43269967	Missense_Mutation	SNP	T	TCGA-SX-A7SN-01A-11D-A34Z-10	10038357	43269967	127845100	38	46973											
PKHD1	5314	hgsc.bcm.edu	37	6	51924726	51924726	+	Splice_Site	SNP	C	C	A			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr6:51924726C>A	ENST00000371117.3	-	15	1508	c.1233G>T	c.(1231-1233)aaG>aaT	p.K411N	PKHD1_ENST00000340994.4_Splice_Site_p.K411N|AL590391.1_ENST00000408630.2_RNA	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	411					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)					CAGTGAATACCTTAGTCCTTG	0.408																																																0													104	86	92					6																	51924726		2203	4300	6503	SO:0001630	splice_region_variant	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.1233+1G>T	chr6.hg19:g.51924726C>A			Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	hg19	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.017046	0.75161	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.88354	-2.37;-2.37	5.47	5.47	0.80525	.	0.074122	0.56097	D	0.000033	D	0.94351	0.8184	M	0.82823	2.61	0.42116	D	0.991401	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.93787	0.7089	9	.	.	.	.	18.6748	0.91525	0.0:1.0:0.0:0.0	.	411;411	P08F94-2;P08F94	.;PKHD1_HUMAN	N	411	ENSP00000360158:K411N;ENSP00000341097:K411N	.	K	-	3	2	PKHD1	52032685	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	5.100000	0.64560	2.723000	0.93209	0.655000	0.94253	AAG		0.408	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	Missense_Mutation	A	51924726	C	A	51924726	5	1	790	1	0	0	0	0	0	0	1	0	11973	695	24	4	11242	4	PKHD1	6	51924726	Splice_Site	SNP	C	TCGA-SX-A7SN-01A-11D-A34Z-10	8654759	51924726	119190341	39	46974											
SMAP1	60682	hgsc.bcm.edu	37	6	71377783	71377783	+	Silent	SNP	C	C	A			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr6:71377783C>A	ENST00000370455.3	+	1	305	c.57C>A	c.(55-57)ctC>ctA	p.L19L	SMAP1_ENST00000422334.2_Silent_p.L19L|SMAP1_ENST00000370452.3_Silent_p.L19L|SMAP1_ENST00000316999.5_Silent_p.L19L	NM_001044305.1|NM_001281440.1	NP_001037770.1|NP_001268369.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	19	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				positive regulation of erythrocyte differentiation (GO:0045648)|regulation of ARF GTPase activity (GO:0032312)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						AGCACCAGCTCATCCTATCCA	0.667																																																0													67	57	60					6																	71377783		2203	4300	6503	SO:0001819	synonymous_variant	60682			AK023221	CCDS4973.1, CCDS43478.1, CCDS64459.1, CCDS75478.1	6q12-q13	2009-11-30	2008-09-05		ENSG00000112305	ENSG00000112305		"ADP-ribosylation factor GTPase activating proteins"	19651	protein-coding gene	gene with protein product		611372	"stromal membrane-associated protein 1", "stromal membrane-associated GTPase-activating protein 1"			9644265, 12119110	Standard	NM_001044305		Approved	FLJ13159, SMAP-1	uc003pfr.3	Q8IYB5	OTTHUMG00000014996	ENST00000370455.3:c.57C>A	chr6.hg19:g.71377783C>A			Q53H70|Q5SYQ2|Q6PK24|Q8NDH4|Q96L38|Q96L39|Q9H8X4	Silent	SNP	ENST00000370455.3	hg19	CCDS43478.1																																																																																				0.667	SMAP1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041149.1	NM_001044305		A	71377783	C	A	71377783	2	1	790	1	0	0	0	0	0	0	0	1	14772	813	29	4		4	SMAP1	6	71377783	Silent	SNP	C	TCGA-SX-A7SN-01A-11D-A34Z-10	19453057	71377783	99737284	40	46975											
EEF1A1	1915	hgsc.bcm.edu	37	6	74228567	74228567	+	Missense_Mutation	SNP	G	G	T			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr6:74228567G>T	ENST00000316292.9	-	4	1617	c.626C>A	c.(625-627)cCt>cAt	p.P209H	EEF1A1_ENST00000331523.2_Missense_Mutation_p.P209H|EEF1A1_ENST00000309268.6_Missense_Mutation_p.P209H|EEF1A1_ENST00000491404.1_Intron	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	209	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						CTTGAACCAAGGCATCTGAAA	0.488											OREG0003891|OREG0003895	type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|Gene=EEF1A1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																				0													94	87	90					6																	74228567		2203	4300	6503	SO:0001583	missense	1915			BC019669	CCDS4980.1	6q14.1	2010-06-30	2004-11-19		ENSG00000156508	ENSG00000156508			3189	protein-coding gene	gene with protein product		130590	"leukocyte receptor cluster (LRC) member 7"	EF1A, EEF1A, LENG7		8812466, 10941842	Standard	NM_001402		Approved	EE1A1	uc003phj.3	P68104	OTTHUMG00000015031	ENST00000316292.9:c.626C>A	chr6.hg19:g.74228567G>T	ENSP00000339063:p.Pro209His	1151	P04719|P04720|Q6IQ15	Missense_Mutation	SNP	ENST00000316292.9	hg19	CCDS4980.1	.	.	.	.	.	.	.	.	.	.	G	19.33	3.806766	0.70682	.	.	ENSG00000156508	ENST00000316292;ENST00000358190;ENST00000309268;ENST00000331523;ENST00000391977	T;T;T	0.44881	0.91;0.91;0.91	4.31	4.31	0.51392	Protein synthesis factor, GTP-binding (2);	0.209202	0.40385	U	0.001106	T	0.58637	0.2136	M	0.87038	2.855	0.53688	D	0.999975	P;P;P;P	0.46952	0.887;0.887;0.887;0.887	P;P;P;P	0.56343	0.796;0.796;0.796;0.796	T	0.69079	-0.5240	10	0.87932	D	0	.	17.2248	0.86966	0.0:0.0:1.0:0.0	.	209;209;209;209	P68104;Q53HR5;Q6IPS9;Q5VTE0	EF1A1_HUMAN;.;.;EF1A3_HUMAN	H	209;209;209;209;188	ENSP00000339063:P209H;ENSP00000339053:P209H;ENSP00000330054:P209H	ENSP00000339053:P209H	P	-	2	0	EEF1A1	74285288	1.000000	0.71417	0.994000	0.49952	0.986000	0.74619	7.413000	0.80104	2.115000	0.64714	0.549000	0.68633	CCT		0.488	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041210.2	NM_001402		T	74228567	G	T	74228567	3	4	790	1	0	0	0	0	1	0	0	0	4925	1000	35	4	778	4	EEF1A1	6	74228567	Missense_Mutation	SNP	G	TCGA-SX-A7SN-01A-11D-A34Z-10	2850784	74228567	96886500	41	46976											
QRSL1	55278	hgsc.bcm.edu	37	6	107111042	107111042	+	Missense_Mutation	SNP	C	C	A			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr6:107111042C>A	ENST00000369046.4	+	10	1452	c.1348C>A	c.(1348-1350)Caa>Aaa	p.Q450K		NM_018292.4	NP_060762.3			glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1											endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248)	Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152)	BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176)		TATTTTTACACAAGCTGTAAA	0.433																																					NSCLC(192;2127 2142 11668 26277 49545)											0													64	63	63					6																	107111042		2203	4300	6503	SO:0001583	missense	55278			AK001851	CCDS5057.1	6q21	2014-08-04			ENSG00000130348	ENSG00000130348			21020	protein-coding gene	gene with protein product	"glutamyl-tRNA(Gln) amidotransferase, subunit A"					11230166, 19805282	Standard	NM_018292		Approved	GatA, FLJ10989, FLJ12189, DKFZP564C1278, FLJ13447	uc003prm.3	Q9H0R6	OTTHUMG00000015301	ENST00000369046.4:c.1348C>A	chr6.hg19:g.107111042C>A	ENSP00000358042:p.Gln450Lys			Missense_Mutation	SNP	ENST00000369046.4	hg19	CCDS5057.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.782043	0.90282	.	.	ENSG00000130348	ENST00000369046	T	0.54479	0.57	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.60209	0.2251	L	0.39898	1.24	0.80722	D	1	D	0.69078	0.997	D	0.74023	0.982	T	0.63791	-0.6557	10	0.87932	D	0	-9.5878	19.2883	0.94087	0.0:1.0:0.0:0.0	.	450	Q9H0R6	GATA_HUMAN	K	450	ENSP00000358042:Q450K	ENSP00000358042:Q450K	Q	+	1	0	QRSL1	107217735	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.487000	0.81328	2.578000	0.87016	0.484000	0.47621	CAA		0.433	QRSL1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041667.1	NM_018292		A	107111042	C	A	107111042	3	1	790	1	0	0	0	0	1	0	0	0	12887	479	17	4	1386	4	QRSL1	6	107111042	Missense_Mutation	SNP	C	TCGA-SX-A7SN-01A-11D-A34Z-10	32882475	107111042	64004025	42	46977											
RAET1E	135250	hgsc.bcm.edu	37	6	150211134	150211134	+	Missense_Mutation	SNP	C	C	T			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr6:150211134C>T	ENST00000357183.4	-	2	365	c.233G>A	c.(232-234)gGg>gAg	p.G78E	RAET1E-AS1_ENST00000446954.2_RNA|RAET1E_ENST00000532335.1_Missense_Mutation_p.G78E|RAET1E_ENST00000529948.1_Missense_Mutation_p.G78E|RAET1E_ENST00000367363.3_Missense_Mutation_p.G42E|RAET1E-AS1_ENST00000605899.1_RNA|RP11-244K5.8_ENST00000606915.1_RNA	NM_139165.2	NP_631904.1	Q8TD07	N2DL4_HUMAN	retinoic acid early transcript 1E	78	MHC class I alpha-1 like.				antigen processing and presentation (GO:0019882)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of immune response (GO:0050776)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	natural killer cell lectin-like receptor binding (GO:0046703)			cervix(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		TACCTTCTTCCCCAGGAGGCC	0.517																																																0													100	92	95					6																	150211134		2203	4300	6503	SO:0001583	missense	135250			AF359243	CCDS5221.1, CCDS59042.1, CCDS59043.1, CCDS59044.1	6q24.3	2011-02-09			ENSG00000164520	ENSG00000164520			16793	protein-coding gene	gene with protein product		609243				11827464	Standard	NM_139165		Approved	LETAL, bA350J20.7, ULBP4	uc003qnl.1	Q8TD07	OTTHUMG00000015796	ENST00000357183.4:c.233G>A	chr6.hg19:g.150211134C>T	ENSP00000349709:p.Gly78Glu		A6YF59|Q5VYB7|Q5VYB8|Q8TEZ2|Q96L41	Missense_Mutation	SNP	ENST00000357183.4	hg19	CCDS5221.1	.	.	.	.	.	.	.	.	.	.	C	14.11	2.438330	0.43326	.	.	ENSG00000164520	ENST00000532335;ENST00000357183;ENST00000367363;ENST00000529948;ENST00000531073	T;T;T;T;T	0.24723	1.84;1.84;5.83;1.84;3.29	3.85	-0.0414	0.13868	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.619520	0.14505	N	0.315517	T	0.25082	0.0609	L	0.61036	1.89	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.04481	-1.0948	10	0.87932	D	0	-12.1253	4.4654	0.11687	0.0:0.4291:0.3606:0.2102	.	78;42;78	Q8TD07;Q8TD07-2;Q8TD07-3	N2DL4_HUMAN;.;.	E	78;78;42;78;78	ENSP00000437067:G78E;ENSP00000349709:G78E;ENSP00000356332:G42E;ENSP00000432366:G78E;ENSP00000433489:G78E	ENSP00000349709:G78E	G	-	2	0	RAET1E	150252827	0.000000	0.05858	0.000000	0.03702	0.091000	0.18340	-0.538000	0.06120	-0.033000	0.13736	0.591000	0.81541	GGG		0.517	RAET1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042659.1	NM_139165		T	150211134	C	T	150211134	3	4	790	1	0	0	0	0	1	0	0	0	13005	623	22	2	570	2	RAET1E	6	150211134	Missense_Mutation	SNP	C	TCGA-SX-A7SN-01A-11D-A34Z-10	43100092	150211134	20903933	43	46978											
MLXIPL	51085	hgsc.bcm.edu	37	7	73038696	73038696	+	Missense_Mutation	SNP	G	G	A			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr7:73038696G>A	ENST00000313375.3	-	1	174	c.127C>T	c.(127-129)Cgc>Tgc	p.R43C	MLXIPL_ENST00000429400.2_Missense_Mutation_p.R43C|MLXIPL_ENST00000354613.1_Missense_Mutation_p.R43C|MLXIPL_ENST00000434326.1_Missense_Mutation_p.R43C|MLXIPL_ENST00000414749.2_Missense_Mutation_p.R43C|MLXIPL_ENST00000395189.1_Missense_Mutation_p.R43C	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	MLXPL_HUMAN	MLX interacting protein-like	43					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)				ACCTGCGAGCGGAGCAAGCCG	0.736																																																0													7	8	8					7																	73038696		2141	4188	6329	SO:0001583	missense	51085			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.127C>T	chr7.hg19:g.73038696G>A	ENSP00000320886:p.Arg43Cys		C5HU02|C5HU03|C5HU04|Q96E48|Q9BY03|Q9BY04|Q9BY05|Q9BY06|Q9Y2P3	Missense_Mutation	SNP	ENST00000313375.3	hg19	CCDS5553.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.458986	0.84317	.	.	ENSG00000009950	ENST00000414749;ENST00000429400;ENST00000313375;ENST00000354613;ENST00000395189;ENST00000434326;ENST00000453275	T;T;T;T;T;T	0.33216	1.97;1.99;1.98;1.99;1.42;1.42	4.24	4.24	0.50183	.	0.353680	0.21200	N	0.078499	T	0.43765	0.1262	M	0.63843	1.955	0.45056	D	0.998073	D;D;D;D;D	0.76494	0.996;0.998;0.999;0.999;0.999	P;P;P;P;P	0.54924	0.648;0.585;0.764;0.764;0.764	T	0.44907	-0.9297	10	0.87932	D	0	-17.4128	11.9628	0.53017	0.0:0.0:1.0:0.0	.	43;43;43;43;43	Q9NP71-6;Q9NP71;Q9NP71-2;Q9NP71-3;Q9NP71-4	.;MLXPL_HUMAN;.;.;.	C	43	ENSP00000412330:R43C;ENSP00000406296:R43C;ENSP00000320886:R43C;ENSP00000346629:R43C;ENSP00000378616:R43C;ENSP00000392636:R43C	ENSP00000320886:R43C	R	-	1	0	MLXIPL	72676632	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	5.668000	0.68074	2.170000	0.68504	0.491000	0.48974	CGC		0.736	MLXIPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252262.1	NM_032951		A	73038696	G	A	73038696	3	1	790	1	0	0	0	0	1	0	0	0	9639	1116	39	1	2499	1	MLXIPL	7	73038696	Missense_Mutation	SNP	G	TCGA-SX-A7SN-01A-11D-A34Z-10		73038696	86099967	44	46979											
TRRAP	8295	hgsc.bcm.edu	37	7	98506430	98506430	+	Missense_Mutation	SNP	G	G	C			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr7:98506430G>C	ENST00000359863.4	+	14	1404	c.1195G>C	c.(1195-1197)Gtc>Ctc	p.V399L	TRRAP_ENST00000446306.3_Missense_Mutation_p.V399L|TRRAP_ENST00000355540.3_Missense_Mutation_p.V399L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	399					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)	p.V399I(2)		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)			CTCCCTCGCCGTCCAGCTCTT	0.647																																																2	Substitution - Missense(2)	lung(2)											77	50	59					7																	98506430		2203	4300	6503	SO:0001583	missense	8295			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.1195G>C	chr7.hg19:g.98506430G>C	ENSP00000352925:p.Val399Leu		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	hg19	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.796795	0.90453	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.59772	3.92;0.24	5.84	5.84	0.93424	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.78394	0.4276	M	0.81179	2.53	0.80722	D	1	D;P;P	0.53312	0.959;0.931;0.931	D;P;P	0.65987	0.94;0.872;0.872	T	0.79557	-0.1754	10	0.72032	D	0.01	.	20.1551	0.98106	0.0:0.0:1.0:0.0	.	399;113;399	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	L	399	ENSP00000352925:V399L;ENSP00000347733:V399L	ENSP00000347733:V399L	V	+	1	0	TRRAP	98344366	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	9.625000	0.98406	2.760000	0.94817	0.655000	0.94253	GTC		0.647	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		C	98506430	G	C	98506430	3	2	790	1	0	0	0	0	1	0	0	0	16606	1145	40	4	1245	4	TRRAP	7	98506430	Missense_Mutation	SNP	G	TCGA-SX-A7SN-01A-11D-A34Z-10	25467734	98506430	60632233	45	46980											
ZKSCAN5	23660	hgsc.bcm.edu	37	7	99117529	99117529	+	Silent	SNP	C	C	T			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr7:99117529C>T	ENST00000394170.2	+	4	884	c.633C>T	c.(631-633)tcC>tcT	p.S211S	ZKSCAN5_ENST00000326775.5_Silent_p.S211S|ZKSCAN5_ENST00000451158.1_Silent_p.S211S	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	211					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)			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	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)					CAACTGGGTCCCAGGTGAGCT	0.547																																																0													82	74	77					7																	99117529		2203	4300	6503	SO:0001819	synonymous_variant	23660			AF170025	CCDS5667.1	7q22	2013-01-09	2007-02-20	2007-02-20	ENSG00000196652	ENSG00000196652		"Zinc fingers, C2H2-type", "-", "-", "-"	12867	protein-coding gene	gene with protein product		611272	"zinc finger protein homologous to Zfp95 in mouse", "zinc finger protein 95 homolog (mouse)"	ZFP95		10585779	Standard	NM_014569		Approved	ZNF914, ZSCAN37	uc003uqv.3	Q9Y2L8	OTTHUMG00000156749	ENST00000394170.2:c.633C>T	chr7.hg19:g.99117529C>T			A4D280|D6W5S9	Silent	SNP	ENST00000394170.2	hg19	CCDS5667.1																																																																																				0.547	ZKSCAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345597.1	NM_014569		T	99117529	C	T	99117529	2	4	790	1	0	0	0	0	0	0	0	1	17695	610	22	2		2	ZKSCAN5	7	99117529	Silent	SNP	C	TCGA-SX-A7SN-01A-11D-A34Z-10	611099	99117529	60021134	46	46981											
ZNF282	8427	hgsc.bcm.edu	37	7	148892698	148892698	+	Missense_Mutation	SNP	C	C	A			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr7:148892698C>A	ENST00000262085.3	+	1	122	c.17C>A	c.(16-18)aCa>aAa	p.T6K	ZNF282_ENST00000479907.1_Missense_Mutation_p.T6K	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	6					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)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		TTTGTGTCAACACGGCCGCAG	0.687																																																0													17	18	18					7																	148892698		2201	4297	6498	SO:0001583	missense	8427			D30612	CCDS5895.1	7q36.1	2013-01-08			ENSG00000170265	ENSG00000170265		"Zinc fingers, C2H2-type", "-"	13076	protein-coding gene	gene with protein product		603397				9396811	Standard	NM_003575		Approved	HUB1	uc003wfm.3	Q9UDV7	OTTHUMG00000158974	ENST00000262085.3:c.17C>A	chr7.hg19:g.148892698C>A	ENSP00000262085:p.Thr6Lys		B4DRI5|O43691|Q6DKK0	Missense_Mutation	SNP	ENST00000262085.3	hg19	CCDS5895.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.383155	0.82792	.	.	ENSG00000170265	ENST00000262085;ENST00000479907	T;T	0.07567	3.18;4.93	4.52	4.52	0.55395	.	0.000000	0.42821	D	0.000660	T	0.13970	0.0338	N	0.14661	0.345	0.37992	D	0.933934	D;D	0.71674	0.998;0.981	D;D	0.73708	0.981;0.95	T	0.18178	-1.0345	10	0.87932	D	0	-10.484	12.7526	0.57316	0.0:1.0:0.0:0.0	.	6;6	B4DRI5;Q9UDV7	.;ZN282_HUMAN	K	6	ENSP00000262085:T6K;ENSP00000418840:T6K	ENSP00000262085:T6K	T	+	2	0	ZNF282	148523631	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.024000	0.41049	2.024000	0.59613	0.313000	0.20887	ACA		0.687	ZNF282-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352746.1	NM_003575		A	148892698	C	A	148892698	3	1	790	1	0	0	0	0	1	0	0	0	17824	478	17	4	19	4	ZNF282	7	148892698	Missense_Mutation	SNP	C	TCGA-SX-A7SN-01A-11D-A34Z-10	49775169	148892698	10245965	47	46982											
RP1	6101	hgsc.bcm.edu	37	8	55537660	55537660	+	Silent	SNP	G	G	A			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr8:55537660G>A	ENST00000220676.1	+	4	1366	c.1218G>A	c.(1216-1218)gaG>gaA	p.E406E		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	406					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.E406D(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)			GTTTGGCAGAGGAGATAAACA	0.448																																					Colon(91;1014 1389 7634 14542 40420)											1	Substitution - Missense(1)	large_intestine(1)											94	93	93					8																	55537660		2203	4300	6503	SO:0001819	synonymous_variant	6101			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.1218G>A	chr8.hg19:g.55537660G>A				Silent	SNP	ENST00000220676.1	hg19	CCDS6160.1																																																																																				0.448	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		A	55537660	G	A	55537660	2	1	790	1	0	0	0	0	0	0	0	1	13538	991	35	2		2	RP1	8	55537660	Silent	SNP	G	TCGA-SX-A7SN-01A-11D-A34Z-10		55537660	90826362	48	46983											
ARFGEF1	10565	hgsc.bcm.edu	37	8	68200291	68200291	+	Missense_Mutation	SNP	T	T	C			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr8:68200291T>C	ENST00000262215.3	-	7	1315	c.926A>G	c.(925-927)aAa>aGa	p.K309R		NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	309					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)			CACTTCATTTTTAGATAATGC	0.294																																																0													143	139	141					8																	68200291		2203	4299	6502	SO:0001583	missense	10565			AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.926A>G	chr8.hg19:g.68200291T>C	ENSP00000262215:p.Lys309Arg		Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	hg19	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	T	8.851	0.944495	0.18356	.	.	ENSG00000066777	ENST00000262215	T	0.20200	2.09	5.39	5.39	0.77823	Armadillo-type fold (1);	0.222812	0.46758	D	0.000280	T	0.15392	0.0371	N	0.22421	0.69	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.08006	-1.0743	10	0.18710	T	0.47	.	15.6988	0.77521	0.0:0.0:0.0:1.0	.	309	Q9Y6D6	BIG1_HUMAN	R	309	ENSP00000262215:K309R	ENSP00000262215:K309R	K	-	2	0	ARFGEF1	68362845	1.000000	0.71417	1.000000	0.80357	0.549000	0.35272	5.052000	0.64263	2.171000	0.68590	0.377000	0.23210	AAA		0.294	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		C	68200291	T	C	68200291	3	2	790	1	0	0	0	0	1	0	0	0	852	1841	64	3	4755	3	ARFGEF1	8	68200291	Missense_Mutation	SNP	T	TCGA-SX-A7SN-01A-11D-A34Z-10	12662631	68200291	78163731	49	46984											
CLTA	1211	hgsc.bcm.edu	37	9	36204095	36204095	+	Nonsense_Mutation	SNP	G	G	A			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr9:36204095G>A	ENST00000242285.6	+	4	524	c.404G>A	c.(403-405)tGg>tAg	p.W135*	CLTA_ENST00000433436.2_Nonsense_Mutation_p.W135*|CLTA_ENST00000540080.1_Nonsense_Mutation_p.W83*|CLTA_ENST00000466396.1_Nonsense_Mutation_p.W83*|CLTA_ENST00000345519.5_Nonsense_Mutation_p.W135*|CLTA_ENST00000396603.2_Nonsense_Mutation_p.W135*|CLTA_ENST00000538225.1_Nonsense_Mutation_p.W135*|CLTA_ENST00000470744.1_Nonsense_Mutation_p.W135*			P09496	CLCA_HUMAN	clathrin, light chain A	135	Involved in binding clathrin heavy chain.				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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-Golgi vesicle-mediated transport (GO:0006892)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	clathrin heavy chain binding (GO:0032050)|peptide binding (GO:0042277)|structural molecule activity (GO:0005198)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	6			STAD - Stomach adenocarcinoma(86;0.228)			GAAGCAGAGTGGAAAGAAAAG	0.418																																																0													134	106	115					9																	36204095		2203	4300	6503	SO:0001587	stop_gained	1211				CCDS6600.1, CCDS6601.1, CCDS43802.1, CCDS55306.1, CCDS55307.1	9p13.3	2010-05-11	2010-05-11		ENSG00000122705	ENSG00000122705			2090	protein-coding gene	gene with protein product		118960	"clathrin, light polypeptide (Lca)"			7713494	Standard	NM_007096		Approved	Lca	uc003zzc.3	P09496	OTTHUMG00000019896	ENST00000242285.6:c.404G>A	chr9.hg19:g.36204095G>A	ENSP00000242285:p.Trp135*		A8K4W3|B4DIN1|F5H6N3|Q2XPN5|Q53XZ1	Nonsense_Mutation	SNP	ENST00000242285.6	hg19	CCDS6601.1	.	.	.	.	.	.	.	.	.	.	G	34	5.323721	0.95708	.	.	ENSG00000122705	ENST00000433436;ENST00000538225;ENST00000540080;ENST00000345519;ENST00000470744;ENST00000242285;ENST00000466396;ENST00000396603	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	-8.2768	17.8186	0.88643	0.0:0.0:1.0:0.0	.	.	.	.	X	135;135;83;135;135;135;83;135	.	ENSP00000242285:W135X	W	+	2	0	CLTA	36194095	1.000000	0.71417	1.000000	0.80357	0.608000	0.37181	9.078000	0.94023	2.818000	0.97014	0.655000	0.94253	TGG		0.418	CLTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052405.1	NM_007096		A	36204095	G	A	36204095	4	1	790	1	0	0	0	0	0	1	0	0	3566	1357	47	2	418	2	CLTA	9	36204095	Nonsense_Mutation	SNP	G	TCGA-SX-A7SN-01A-11D-A34Z-10		36204095	105009336	50	46985											
KIF27	55582	hgsc.bcm.edu	37	9	86518501	86518501	+	Missense_Mutation	SNP	T	T	C			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr9:86518501T>C	ENST00000297814.2	-	4	1075	c.932A>G	c.(931-933)aAg>aGg	p.K311R	KIF27_ENST00000334204.2_Missense_Mutation_p.K311R|KIF27_ENST00000413982.1_Missense_Mutation_p.K311R	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	311	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						CATGACAGTCTTAGCACTGCC	0.448																																																0													77	79	79					9																	86518501		2203	4300	6503	SO:0001583	missense	55582			AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"Kinesins"	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.932A>G	chr9.hg19:g.86518501T>C	ENSP00000297814:p.Lys311Arg		B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	ENST00000297814.2	hg19	CCDS6665.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.076262	0.76415	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204	T;T;T	0.77098	-1.07;-1.07;-1.07	5.8	5.8	0.92144	Kinesin, motor domain (4);	0.000000	0.64402	D	0.000012	T	0.75708	0.3886	N	0.04355	-0.22	0.47009	D	0.999284	D;P;D	0.89917	1.0;0.885;1.0	D;P;D	0.91635	0.988;0.482;0.999	T	0.79574	-0.1747	10	0.35671	T	0.21	.	16.1596	0.81693	0.0:0.0:0.0:1.0	.	311;311;311	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	R	311	ENSP00000297814:K311R;ENSP00000401688:K311R;ENSP00000333928:K311R	ENSP00000297814:K311R	K	-	2	0	KIF27	85708321	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.179000	0.65043	2.216000	0.71823	0.533000	0.62120	AAG		0.448	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	NM_017576		C	86518501	T	C	86518501	3	2	790	1	0	0	0	0	1	0	0	0	8298	1609	56	3	3333	3	KIF27	9	86518501	Missense_Mutation	SNP	T	TCGA-SX-A7SN-01A-11D-A34Z-10	50314406	86518501	54694930	51	46986											
ANKS6	203286	hgsc.bcm.edu	37	9	101498890	101498890	+	Missense_Mutation	SNP	T	T	G			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr9:101498890T>G	ENST00000353234.4	-	15	2574	c.2527A>C	c.(2527-2529)Att>Ctt	p.I843L	ANKS6_ENST00000375019.2_Missense_Mutation_p.I542L|ANKS6_ENST00000540940.1_Missense_Mutation_p.I648L|ANKS6_ENST00000375018.1_Missense_Mutation_p.I844L			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	843						cilium (GO:0005929)|cytoplasm (GO:0005737)				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TCCTGTAAAATTTGTCTCTCG	0.448																																																0													80	83	82					9																	101498890		1910	4119	6029	SO:0001583	missense	203286			AK094247	CCDS43856.1	9q31.1	2013-09-10	2006-02-17	2006-02-17	ENSG00000165138	ENSG00000165138		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	26724	protein-coding gene	gene with protein product		615370	"sterile alpha motif domain containing 6", "ankyrin repeat domain 14"	SAMD6, ANKRD14		23793029	Standard	XM_005251793		Approved	FLJ36928, NPHP16	uc004ayu.3	Q68DC2	OTTHUMG00000020347	ENST00000353234.4:c.2527A>C	chr9.hg19:g.101498890T>G	ENSP00000297837:p.Ile843Leu		A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Missense_Mutation	SNP	ENST00000353234.4	hg19	CCDS43856.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.6|21.6	4.180089|4.180089	0.78564|0.78564	.|.	.|.	ENSG00000165138|ENSG00000165138	ENST00000375019;ENST00000375018;ENST00000353234;ENST00000540940|ENST00000444472	T;T;T;T|.	0.67698|.	1.89;-0.28;-0.26;2.16|.	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.52075|0.52075	0.1712|0.1712	L|L	0.27053|0.27053	0.805|0.805	0.38043|0.38043	D|D	0.935529|0.935529	D;D|.	0.58268|.	0.982;0.97|.	D;P|.	0.69307|.	0.963;0.804|.	T|T	0.54268|0.54268	-0.8319|-0.8319	10|5	0.62326|.	D|.	0.03|.	-17.0533|-17.0533	13.5089|13.5089	0.61499|0.61499	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	844;843|.	Q68DC2-4;Q68DC2|.	.;ANKS6_HUMAN|.	L|T	542;844;843;648|312	ENSP00000364159:I542L;ENSP00000364158:I844L;ENSP00000297837:I843L;ENSP00000442189:I648L|.	ENSP00000297837:I843L|.	I|N	-|-	1|2	0|0	ANKS6|ANKS6	100538711|100538711	1.000000|1.000000	0.71417|0.71417	0.528000|0.528000	0.27938|0.27938	0.996000|0.996000	0.88848|0.88848	4.077000|4.077000	0.57598|0.57598	2.134000|2.134000	0.65973|0.65973	0.533000|0.533000	0.62120|0.62120	ATT|AAT		0.448	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277053.1	NM_173551		G	101498890	T	G	101498890	3	3	790	1	0	0	0	0	1	0	0	0	692	1493	52	5	92	5	ANKS6	9	101498890	Missense_Mutation	SNP	T	TCGA-SX-A7SN-01A-11D-A34Z-10	14980389	101498890	39714541	52	46987											
STX17	55014	hgsc.bcm.edu	37	9	102730737	102730737	+	Missense_Mutation	SNP	G	G	A			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr9:102730737G>A	ENST00000259400.6	+	8	827	c.691G>A	c.(691-693)Gct>Act	p.A231T	STX17_ENST00000525640.1_Missense_Mutation_p.A231T|STX17_ENST00000534052.1_Missense_Mutation_p.A231T|STX17_ENST00000525847.1_3'UTR	NM_017919.2	NP_060389.2	P56962	STX17_HUMAN	syntaxin 17	231	Necessary and sufficient for localization to autophagosome.				autophagic vacuole fusion (GO:0000046)|endoplasmic reticulum-Golgi intermediate compartment organization (GO:0097111)|ER to Golgi vesicle-mediated transport (GO:0006888)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|protein localization to pre-autophagosomal structure (GO:0034497)	autophagic vacuole membrane (GO:0000421)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|ER to Golgi transport vesicle (GO:0030134)|ER-mitochondrion membrane contact site (GO:0044233)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|smooth endoplasmic reticulum membrane (GO:0030868)|SNARE complex (GO:0031201)	protein phosphatase binding (GO:0019903)|SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				CAAGCTGGCAGCTCTGCCTGT	0.473																																																0													26	30	29					9																	102730737		2112	4179	6291	SO:0001583	missense	55014			AL834371	CCDS6745.1	9q31.1	2008-02-05			ENSG00000136874	ENSG00000136874			11432	protein-coding gene	gene with protein product		604204				9852078	Standard	NM_017919		Approved	FLJ20651	uc004bal.4	P56962	OTTHUMG00000020359	ENST00000259400.6:c.691G>A	chr9.hg19:g.102730737G>A	ENSP00000259400:p.Ala231Thr		Q4VXC2	Missense_Mutation	SNP	ENST00000259400.6	hg19	CCDS6745.1	.	.	.	.	.	.	.	.	.	.	G	11.82	1.753782	0.31046	.	.	ENSG00000136874	ENST00000259400;ENST00000525640;ENST00000534052	.	.	.	5.52	3.65	0.41850	.	0.258408	0.38720	N	0.001584	T	0.43743	0.1261	L	0.36672	1.1	0.40216	D	0.977689	B	0.19817	0.039	B	0.15870	0.014	T	0.25882	-1.0119	9	0.31617	T	0.26	-8.1716	8.8801	0.35370	0.0748:0.0:0.777:0.1481	.	231	P56962	STX17_HUMAN	T	231	.	ENSP00000259400:A231T	A	+	1	0	STX17	101770558	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.513000	0.67037	0.660000	0.30964	0.655000	0.94253	GCT		0.473	STX17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053398.3	NM_017919		A	102730737	G	A	102730737	3	1	790	1	0	0	0	0	1	0	0	0	15345	971	34	2	717	2	STX17	9	102730737	Missense_Mutation	SNP	G	TCGA-SX-A7SN-01A-11D-A34Z-10	1231847	102730737	38482694	53	46988											
ENTPD8	377841	hgsc.bcm.edu	37	9	140332422	140332422	+	Nonsense_Mutation	SNP	C	C	A			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr9:140332422C>A	ENST00000472938.1	-	2	257	c.241G>T	c.(241-243)Gaa>Taa	p.E81*	ENTPD8_ENST00000344119.2_Nonsense_Mutation_p.E81*|ENTPD8_ENST00000371506.2_Nonsense_Mutation_p.E81*			Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	81					nucleoside diphosphate biosynthetic process (GO:0009133)|nucleoside monophosphate biosynthetic process (GO:0009124)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		CACTAACCTTCCACCTGGCAG	0.622																																																0													54	58	56					9																	140332422		2202	4300	6502	SO:0001587	stop_gained	377841			AY359088	CCDS7043.1, CCDS43913.1	9q34.3	2013-09-20			ENSG00000188833	ENSG00000188833			24860	protein-coding gene	gene with protein product	"GLSR2492"					12975309	Standard	NM_198585		Approved	UNQ2492, NTPDase-8	uc004cmw.3	Q5MY95	OTTHUMG00000131831	ENST00000472938.1:c.241G>T	chr9.hg19:g.140332422C>A	ENSP00000420531:p.Glu81*		A2BG17|Q6UVZ0	Nonsense_Mutation	SNP	ENST00000472938.1	hg19	CCDS43913.1	.	.	.	.	.	.	.	.	.	.	C	37	6.173688	0.97348	.	.	ENSG00000188833	ENST00000344119;ENST00000371506;ENST00000472938;ENST00000493135	.	.	.	4.3	0.708	0.18144	.	0.719465	0.12972	N	0.424026	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.9216	0.19086	0.0:0.5815:0.2643:0.1542	.	.	.	.	X	81;81;81;68	.	ENSP00000344089:E81X	E	-	1	0	ENTPD8	139452243	0.000000	0.05858	0.975000	0.42487	0.957000	0.61999	-4.003000	0.00316	0.289000	0.22422	0.561000	0.74099	GAA		0.622	ENTPD8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355991.1	NM_198585		A	140332422	C	A	140332422	4	1	790	1	0	0	0	0	0	1	0	0	5147	864	30	4	1278	4	ENTPD8	9	140332422	Nonsense_Mutation	SNP	C	TCGA-SX-A7SN-01A-11D-A34Z-10	37601685	140332422	881009	54	46989											
DIP2C	22982	hgsc.bcm.edu	37	10	375429	375429	+	Missense_Mutation	SNP	A	A	G			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr10:375429A>G	ENST00000280886.6	-	30	3784	c.3697T>C	c.(3697-3699)Tac>Cac	p.Y1233H		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1233						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)		ATCACGGAGTAGGAGCAAAAC	0.597																																																0													63	53	57					10																	375429		2203	4300	6503	SO:0001583	missense	22982			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.3697T>C	chr10.hg19:g.375429A>G	ENSP00000280886:p.Tyr1233His		B4DPI5|Q5SS78	Missense_Mutation	SNP	ENST00000280886.6	hg19	CCDS7054.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.1|20.1	3.932482|3.932482	0.73442|0.73442	.|.	.|.	ENSG00000151240|ENSG00000151240	ENST00000434695|ENST00000280886;ENST00000535541;ENST00000381503	.|T	.|0.10477	.|2.87	5.84|5.84	5.84|5.84	0.93424|0.93424	.|AMP-dependent synthetase/ligase (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.15522|0.15522	0.0374|0.0374	L|L	0.56769|0.56769	1.78|1.78	0.80722|0.80722	D|D	1|1	.|B	.|0.32382	.|0.368	.|B	.|0.37346	.|0.247	T|T	0.06588|0.06588	-1.0818|-1.0818	5|10	.|0.15952	.|T	.|0.53	-25.606|-25.606	16.2141|16.2141	0.82191|0.82191	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1233	.|Q9Y2E4	.|DIP2C_HUMAN	P|H	38|1233;158;82	.|ENSP00000280886:Y1233H	.|ENSP00000280886:Y1233H	L|Y	-|-	2|1	0|0	DIP2C|DIP2C	365429|365429	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.978000|0.978000	0.69477|0.69477	9.339000|9.339000	0.96797|0.96797	2.230000|2.230000	0.72887|0.72887	0.528000|0.528000	0.53228|0.53228	CTA|TAC		0.597	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		G	375429	A	G	375429	3	3	790	1	0	0	0	0	1	0	0	0	4531	420	15	3	1005	3	DIP2C	10	375429	Missense_Mutation	SNP	A	TCGA-SX-A7SN-01A-11D-A34Z-10		375429	135159318	55	46990											
ASB13	79754	hgsc.bcm.edu	37	10	5683908	5683908	+	Silent	SNP	C	C	T			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr10:5683908C>T	ENST00000357700.6	-	5	560	c.534G>A	c.(532-534)gcG>gcA	p.A178A	ASB13_ENST00000479033.1_5'UTR	NM_024701.3	NP_078977.2	Q8WXK3	ASB13_HUMAN	ankyrin repeat and SOCS box containing 13	178					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)		GAAGCTTTGCCGCATTCACGT	0.537																																																0													108	88	95					10																	5683908		2203	4300	6503	SO:0001819	synonymous_variant	79754			AK091935	CCDS7070.1	10p15.1	2013-01-10	2011-01-25		ENSG00000196372	ENSG00000196372		"Ankyrin repeat domain containing"	19765	protein-coding gene	gene with protein product		615055	"ankyrin repeat and SOCS box-containing 13"			12076535	Standard	NM_024701		Approved	FLJ13134, MGC19879	uc001iig.2	Q8WXK3	OTTHUMG00000017603	ENST00000357700.6:c.534G>A	chr10.hg19:g.5683908C>T			A8K7Q6|D3DRR2|Q96EP7|Q9H8Z1	Silent	SNP	ENST00000357700.6	hg19	CCDS7070.1																																																																																				0.537	ASB13-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046564.1			T	5683908	C	T	5683908	2	4	790	1	0	0	0	0	0	0	0	1	1017	639	23	1		1	ASB13	10	5683908	Silent	SNP	C	TCGA-SX-A7SN-01A-11D-A34Z-10	5308479	5683908	129850839	56	46991											
IPMK	253430	hgsc.bcm.edu	37	10	59986850	59986850	+	Silent	SNP	A	A	G			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr10:59986850A>G	ENST00000373935.3	-	3	649	c.327T>C	c.(325-327)taT>taC	p.Y109Y		NM_152230.4	NP_689416.1	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase	109					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						ATTTTGGCAAATATTTTCGTA	0.348																																																0													103	104	104					10																	59986850		2203	4300	6503	SO:0001819	synonymous_variant	253430			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.327T>C	chr10.hg19:g.59986850A>G				Silent	SNP	ENST00000373935.3	hg19	CCDS7250.1																																																																																				0.348	IPMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048142.1	NM_152230		G	59986850	A	G	59986850	2	3	790	1	0	0	0	0	0	0	0	1	7794	108	4	3		3	IPMK	10	59986850	Silent	SNP	A	TCGA-SX-A7SN-01A-11D-A34Z-10	54302942	59986850	75547897	57	46992											
CCAR1	55749	hgsc.bcm.edu	37	10	70547942	70547942	+	Missense_Mutation	SNP	C	C	T			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr10:70547942C>T	ENST00000265872.6	+	23	3163	c.3044C>T	c.(3043-3045)tCa>tTa	p.S1015L	CCAR1_ENST00000543719.1_Missense_Mutation_p.S1000L|CCAR1_ENST00000535016.1_Missense_Mutation_p.S1000L	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	1015					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						AAGCAGGAATCAAAGGATGTG	0.318																																																0													115	114	114					10																	70547942		2203	4300	6503	SO:0001583	missense	55749			AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.3044C>T	chr10.hg19:g.70547942C>T	ENSP00000265872:p.Ser1015Leu		A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Missense_Mutation	SNP	ENST00000265872.6	hg19	CCDS7282.1	.	.	.	.	.	.	.	.	.	.	C	11.89	1.773748	0.31411	.	.	ENSG00000060339	ENST00000265872;ENST00000535016;ENST00000543719;ENST00000539539	T;T;T;T	0.00316	8.13;8.13;8.13;8.13	5.0	1.92	0.25849	.	0.653955	0.14932	N	0.290013	T	0.00109	0.0003	N	0.12182	0.205	0.18873	N	0.999989	B	0.02656	0.0	B	0.01281	0.0	T	0.07888	-1.0749	10	0.28530	T	0.3	-2.6089	7.6308	0.28238	0.0:0.5156:0.3318:0.1526	.	1015	Q8IX12	CCAR1_HUMAN	L	1015;1000;1000;1000	ENSP00000265872:S1015L;ENSP00000441820:S1000L;ENSP00000445254:S1000L;ENSP00000439252:S1000L	ENSP00000265872:S1015L	S	+	2	0	CCAR1	70217948	0.002000	0.14202	0.997000	0.53966	0.996000	0.88848	0.130000	0.15850	0.511000	0.28236	0.558000	0.71614	TCA		0.318	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048356.2	NM_018237		T	70547942	C	T	70547942	3	4	790	1	0	0	0	0	1	0	0	0	2732	838	29	2	3130	2	CCAR1	10	70547942	Missense_Mutation	SNP	C	TCGA-SX-A7SN-01A-11D-A34Z-10	10561092	70547942	64986805	58	46993											
SEC24C	9632	hgsc.bcm.edu	37	10	75529171	75529171	+	Missense_Mutation	SNP	T	T	G			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr10:75529171T>G	ENST00000339365.2	+	19	2653	c.2491T>G	c.(2491-2493)Tgc>Ggc	p.C831G	FUT11_ENST00000372841.3_5'Flank|FUT11_ENST00000394790.1_5'Flank|SEC24C_ENST00000411652.2_Missense_Mutation_p.C712G|SEC24C_ENST00000540668.1_Missense_Mutation_p.C79G|SEC24C_ENST00000496827.1_3'UTR|SEC24C_ENST00000535742.1_Missense_Mutation_p.C79G|SEC24C_ENST00000345254.4_Missense_Mutation_p.C831G	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	831					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					GGCCCTGAACTGCTGCACCCA	0.567																																																0													53	48	50					10																	75529171		2203	4300	6503	SO:0001583	missense	9632			D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"SEC24 (S. cerevisiae) related gene family, member C", "SEC24 family, member C (S. cerevisiae)"			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.2491T>G	chr10.hg19:g.75529171T>G	ENSP00000343405:p.Cys831Gly		B4DZT4|Q8WV25	Missense_Mutation	SNP	ENST00000339365.2	hg19	CCDS7332.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.435280	0.83885	.	.	ENSG00000176986	ENST00000535742;ENST00000345254;ENST00000540668;ENST00000339365;ENST00000411652	T;T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82;-0.82	5.57	5.57	0.84162	Sec23/Sec24 beta-sandwich (1);	0.000000	0.85682	D	0.000000	D	0.87581	0.6213	M	0.84683	2.71	0.80722	D	1	P;D	0.61080	0.952;0.989	D;D	0.85130	0.975;0.997	D	0.89605	0.3837	10	0.87932	D	0	-10.2796	15.7123	0.77641	0.0:0.0:0.0:1.0	.	712;831	E7EP00;P53992	.;SC24C_HUMAN	G	79;831;79;831;712	ENSP00000446174:C79G;ENSP00000321845:C831G;ENSP00000445023:C79G;ENSP00000343405:C831G;ENSP00000402913:C712G	ENSP00000343405:C831G	C	+	1	0	SEC24C	75199177	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.994000	0.88315	2.123000	0.65237	0.260000	0.18958	TGC		0.567	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1			G	75529171	T	G	75529171	3	3	790	1	0	0	0	0	1	0	0	0	14002	1580	55	5	2557	5	SEC24C	10	75529171	Missense_Mutation	SNP	T	TCGA-SX-A7SN-01A-11D-A34Z-10	4981229	75529171	60005576	59	46994											
AFAP1L2	84632	hgsc.bcm.edu	37	10	116062118	116062118	+	Missense_Mutation	SNP	A	A	T			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr10:116062118A>T	ENST00000304129.4	-	12	1439	c.1410T>A	c.(1408-1410)agT>agA	p.S470R	AFAP1L2_ENST00000369271.3_Missense_Mutation_p.S470R|AFAP1L2_ENST00000545353.1_Missense_Mutation_p.S523R|AFAP1L2_ENST00000491814.1_5'Flank			Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	470					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)		TTTTGGCCGCACTCACAATAC	0.542																																																0													154	170	165					10																	116062118		2203	4300	6503	SO:0001583	missense	84632			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.1410T>A	chr10.hg19:g.116062118A>T	ENSP00000303042:p.Ser470Arg		A8K6P7|B3KVQ8|Q2UZW3|Q8TB54|Q96PX4|Q96SY5	Missense_Mutation	SNP	ENST00000304129.4	hg19	CCDS31286.1	.	.	.	.	.	.	.	.	.	.	A	19.72	3.880627	0.72294	.	.	ENSG00000169129	ENST00000369271;ENST00000304129;ENST00000392974;ENST00000545353	T;T;T	0.17854	2.25;2.25;2.25	5.67	-5.88	0.02290	.	0.233607	0.50627	D	0.000118	T	0.27798	0.0684	M	0.73598	2.24	0.29591	N	0.848408	P;P;P;B;P;P	0.52463	0.953;0.928;0.922;0.249;0.953;0.921	P;P;P;B;P;B	0.53401	0.725;0.494;0.535;0.444;0.615;0.411	T	0.20438	-1.0275	10	0.31617	T	0.26	-8.7309	17.5452	0.87859	0.3705:0.0:0.6295:0.0	.	523;36;524;498;470;470	F5GZE1;B7Z363;B7Z2Q0;Q8N4X5-4;Q8N4X5-2;Q8N4X5	.;.;.;.;.;AF1L2_HUMAN	R	470;470;497;523	ENSP00000358276:S470R;ENSP00000303042:S470R;ENSP00000444511:S523R	ENSP00000303042:S470R	S	-	3	2	AFAP1L2	116052108	0.151000	0.22747	0.270000	0.24601	0.994000	0.84299	-0.307000	0.08167	-1.227000	0.02571	0.533000	0.62120	AGT		0.542	AFAP1L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050462.1	NM_032550		T	116062118	A	T	116062118	3	4	790	1	0	0	0	0	1	0	0	0	355	156	6	5	1078	5	AFAP1L2	10	116062118	Missense_Mutation	SNP	A	TCGA-SX-A7SN-01A-11D-A34Z-10	40532947	116062118	19472629	60	46995											
BCCIP	56647	hgsc.bcm.edu	37	10	127515167	127515167	+	Missense_Mutation	SNP	A	A	T			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr10:127515167A>T	ENST00000278100.6	+	2	185	c.173A>T	c.(172-174)aAt>aTt	p.N58I	BCCIP_ENST00000478798.1_3'UTR|BCCIP_ENST00000368759.5_Missense_Mutation_p.N58I|BCCIP_ENST00000299130.3_Missense_Mutation_p.N58I|BCCIP_ENST00000429863.2_Missense_Mutation_p.N58I	NM_078468.2	NP_510868.1	Q9P287	BCCIP_HUMAN	BRCA2 and CDKN1A interacting protein	58					cell cycle (GO:0007049)|DNA repair (GO:0006281)|neuroendocrine cell differentiation (GO:0061101)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nucleus (GO:0005634)	kinase regulator activity (GO:0019207)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)	8		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CAGGAAGTGAATATTGAATTT	0.308																																																0													81	83	82					10																	127515167		2202	4299	6501	SO:0001583	missense	56647			AB040451	CCDS7649.1, CCDS7650.1, CCDS7651.1	10q26.2	2008-05-14	2001-11-29		ENSG00000107949	ENSG00000107949			978	protein-coding gene	gene with protein product		611883	"BRCA2 and CDKN1A-interacting protein"			11313963, 10878006	Standard	NM_016567		Approved	BCCIPalpha, TOK-1	uc001ljd.4	Q9P287	OTTHUMG00000019237	ENST00000278100.6:c.173A>T	chr10.hg19:g.127515167A>T	ENSP00000278100:p.Asn58Ile		B3KP45|Q8ND15|Q96GC4|Q9P288	Missense_Mutation	SNP	ENST00000278100.6	hg19	CCDS7651.1	.	.	.	.	.	.	.	.	.	.	A	15.78	2.934472	0.52866	.	.	ENSG00000107949	ENST00000278100;ENST00000299130;ENST00000368759;ENST00000429863;ENST00000392718	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	5.09	2.58	0.30949	.	0.364353	0.31257	N	0.007978	T	0.31670	0.0804	L	0.41027	1.25	0.58432	D	0.999998	B;B;B;B;B	0.30068	0.267;0.267;0.225;0.225;0.065	B;B;B;B;B	0.27380	0.079;0.079;0.047;0.047;0.054	T	0.04796	-1.0926	10	0.12766	T	0.61	-32.3549	8.2271	0.31575	0.7938:0.1334:0.0728:0.0	.	58;58;58;58;58	B4E318;B4DUS0;Q9P287-2;Q9P287-4;Q9P287	.;.;.;.;BCCIP_HUMAN	I	58	ENSP00000278100:N58I;ENSP00000299130:N58I;ENSP00000357748:N58I;ENSP00000394758:N58I	ENSP00000278100:N58I	N	+	2	0	BCCIP	127505157	0.972000	0.33761	0.995000	0.50966	0.992000	0.81027	2.162000	0.42367	0.895000	0.36342	0.533000	0.62120	AAT		0.308	BCCIP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050941.1			T	127515167	A	T	127515167	3	4	790	1	0	0	0	0	1	0	0	0	1356	101	4	5	179	5	BCCIP	10	127515167	Missense_Mutation	SNP	A	TCGA-SX-A7SN-01A-11D-A34Z-10	11453049	127515167	8019580	61	46996											
NAV2	89797	hgsc.bcm.edu	37	11	20065595	20065595	+	Silent	SNP	A	A	G			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr11:20065595A>G	ENST00000396087.3	+	14	3144	c.3045A>G	c.(3043-3045)tcA>tcG	p.S1015S	NAV2_ENST00000396085.1_Silent_p.S992S|NAV2_ENST00000533917.1_Silent_p.S78S|NAV2_ENST00000527559.2_Silent_p.S944S|NAV2_ENST00000360655.4_Silent_p.S928S|NAV2_ENST00000540292.1_Silent_p.S946S|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000349880.4_Silent_p.S992S|NAV2_ENST00000311043.8_Silent_p.S78S	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1015					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)			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						TCAAGAAATCAGACGGAGGCT	0.517																																																0													99	99	99					11																	20065595		2203	4300	6503	SO:0001819	synonymous_variant	89797			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.3045A>G	chr11.hg19:g.20065595A>G			A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Silent	SNP	ENST00000396087.3	hg19	CCDS58126.1																																																																																				0.517	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		G	20065595	A	G	20065595	2	3	790	1	0	0	0	0	0	0	0	1	10186	175	7	3		3	NAV2	11	20065595	Silent	SNP	A	TCGA-SX-A7SN-01A-11D-A34Z-10		20065595	114940921	62	46997											
SLC5A12	159963	hgsc.bcm.edu	37	11	26720062	26720062	+	Missense_Mutation	SNP	A	A	G			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr11:26720062A>G	ENST00000396005.3	-	7	1151	c.842T>C	c.(841-843)cTg>cCg	p.L281P	SLC5A12_ENST00000280467.6_Missense_Mutation_p.L281P	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	281					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						CCAGAGACCCAGCAAGTTAAA	0.448																																																0													116	105	109					11																	26720062		2203	4299	6502	SO:0001583	missense	159963			BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"Solute carriers"	28750	protein-coding gene	gene with protein product		612455	"solute carrier family 5 (sodium/glucose cotransporter), member 12"			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.842T>C	chr11.hg19:g.26720062A>G	ENSP00000379326:p.Leu281Pro		Q86UC7	Missense_Mutation	SNP	ENST00000396005.3	hg19	CCDS7860.2	.	.	.	.	.	.	.	.	.	.	A	25.0	4.593547	0.86953	.	.	ENSG00000148942	ENST00000396005;ENST00000280467;ENST00000533617	D;D;D	0.87334	-2.24;-2.24;-2.24	6.07	6.07	0.98685	.	0.268718	0.27951	N	0.017189	D	0.86439	0.5933	N	0.11064	0.09	0.80722	D	1	P;D	0.69078	0.942;0.997	P;D	0.73708	0.771;0.981	D	0.85491	0.1185	10	0.22706	T	0.39	.	16.6277	0.84984	1.0:0.0:0.0:0.0	.	281;281	Q1EHB4-2;Q1EHB4	.;SC5AC_HUMAN	P	281;281;93	ENSP00000379326:L281P;ENSP00000280467:L281P;ENSP00000435053:L93P	ENSP00000280467:L281P	L	-	2	0	SLC5A12	26676638	1.000000	0.71417	0.936000	0.37596	0.825000	0.46686	9.154000	0.94694	2.330000	0.79161	0.528000	0.53228	CTG		0.448	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319681.1	NM_178498		G	26720062	A	G	26720062	3	3	790	1	0	0	0	0	1	0	0	0	14670	188	7	3	1050	3	SLC5A12	11	26720062	Missense_Mutation	SNP	A	TCGA-SX-A7SN-01A-11D-A34Z-10	6654467	26720062	108286454	63	46998											
ZNF408	79797	hgsc.bcm.edu	37	11	46724728	46724728	+	Missense_Mutation	SNP	A	A	C	rs376220307|rs148055528	byFrequency	TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr11:46724728A>C	ENST00000311764.2	+	4	817	c.587A>C	c.(586-588)gAa>gCa	p.E196A	ARHGAP1_ENST00000311956.4_5'Flank	NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	196					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GTGGTGACAGAAGTGGAGTCT	0.567																																					Pancreas(79;698 1390 6545 18745 34127)|Esophageal Squamous(120;1014 1625 12837 24601 49525)											0								A	ALA/GLU,ALA/GLU	4,4398		0,4,2197	46	39	42		563,587	0.5	0.6	11		42	36,8500		10,16,4242	no	missense,missense	ZNF408	NM_001184751.1,NM_024741.2	107,107	10,20,6439	CC,CA,AA		0.4217,0.0909,0.3092	benign,benign	188/713,196/721	46724728	40,12898	2201	4268	6469	SO:0001583	missense	79797			AF346626	CCDS7923.1	11p11.2	2008-02-05			ENSG00000175213	ENSG00000175213		"Zinc fingers, C2H2-type"	20041	protein-coding gene	gene with protein product						15231747	Standard	NM_024741		Approved	FLJ12827	uc010rgw.2	Q9H9D4	OTTHUMG00000166568	ENST00000311764.2:c.587A>C	chr11.hg19:g.46724728A>C	ENSP00000309606:p.Glu196Ala			Missense_Mutation	SNP	ENST00000311764.2	hg19	CCDS7923.1	.	.	.	.	.	.	.	.	.	.	A	16.30	3.083402	0.55861	9.09E-4	0.004217	ENSG00000175213	ENST00000311764	T	0.10477	2.87	5.66	0.47	0.16747	.	0.900334	0.09183	N	0.837160	T	0.07593	0.0191	L	0.32530	0.975	0.09310	N	1	B;B	0.31680	0.335;0.335	B;B	0.25140	0.058;0.058	T	0.40590	-0.9555	10	0.19590	T	0.45	-0.378	9.3275	0.38001	0.6254:0.0:0.3746:0.0	.	188;196	B4DXY4;Q9H9D4	.;ZN408_HUMAN	A	196	ENSP00000309606:E196A	ENSP00000309606:E196A	E	+	2	0	ZNF408	46681304	0.229000	0.23729	0.610000	0.28997	0.457000	0.32468	-0.129000	0.10515	0.078000	0.16900	0.533000	0.62120	GAA		0.567	ZNF408-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390485.2	NM_024741		C	46724728	A	C	46724728	3	2	790	1	0	0	0	0	1	0	0	0	17893	246	9	5	633	5	ZNF408	11	46724728	Missense_Mutation	SNP	A	TCGA-SX-A7SN-01A-11D-A34Z-10	20004666	46724728	88281788	64	46999											
C11orf73	51501	hgsc.bcm.edu	37	11	86048421	86048421	+	Splice_Site	SNP	G	G	C			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr11:86048421G>C	ENST00000278483.3	+	3	495	c.269G>C	c.(268-270)gGa>gCa	p.G90A	C11orf73_ENST00000530208.1_3'UTR|C11orf73_ENST00000533986.1_Splice_Site_p.G90A	NM_016401.3	NP_057485.2	Q53FT3	HIKES_HUMAN	chromosome 11 open reading frame 73	90					cellular response to heat (GO:0034605)|Golgi organization (GO:0007030)|lung development (GO:0030324)|protein import into nucleus (GO:0006606)|protein transport (GO:0015031)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	Hsp70 protein binding (GO:0030544)|protein transporter activity (GO:0008565)			kidney(1)|large_intestine(1)|urinary_tract(1)	3		Acute lymphoblastic leukemia(157;1.17e-07)|all_hematologic(158;0.000556)				TTTCTTGCAGGAGAAGGAAGC	0.338																																																0													150	142	144					11																	86048421		2202	4299	6501	SO:0001630	splice_region_variant	51501			BC015991	CCDS8275.1	11q14.2	2013-03-12			ENSG00000149196	ENSG00000149196			26938	protein-coding gene	gene with protein product		614908				11042152, 22541429	Standard	NM_016401		Approved	HSPC138, HSPC179, Hikeshi, OPI10	uc001pbu.3	Q53FT3	OTTHUMG00000167212	ENST00000278483.3:c.269-1G>C	chr11.hg19:g.86048421G>C			Q8WVE8|Q9NVQ2|Q9NZZ1|Q9P022|Q9P0N1	Missense_Mutation	SNP	ENST00000278483.3	hg19	CCDS8275.1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.348862	0.41599	.	.	ENSG00000149196	ENST00000533986;ENST00000278483	T;T	0.41400	1.0;1.0	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.53142	0.1778	M	0.63428	1.95	0.80722	D	1	B;P	0.45348	0.106;0.856	B;P	0.49887	0.179;0.625	T	0.50541	-0.8816	9	.	.	.	.	18.5985	0.91239	0.0:0.0:1.0:0.0	.	90;90	Q53FT3;E9PPG8	CK073_HUMAN;.	A	90	ENSP00000432699:G90A;ENSP00000278483:G90A	.	G	+	2	0	C11orf73	85726069	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.629000	0.74267	2.566000	0.86566	0.555000	0.69702	GGA		0.338	C11orf73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393747.1	NM_016401	Missense_Mutation	C	86048421	G	C	86048421	5	2	790	1	0	0	0	0	0	0	1	0	1663	1188	41	4	279	4	C11orf73	11	86048421	Splice_Site	SNP	G	TCGA-SX-A7SN-01A-11D-A34Z-10	39323693	86048421	48958095	65	47000											
GUCY2C	2984	hgsc.bcm.edu	37	12	14822676	14822676	+	Frame_Shift_Del	DEL	G	G	-			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr12:14822676delG	ENST00000261170.3	-	10	1398	c.1262delC	c.(1261-1263)cctfs	p.P421fs	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	421					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)	AATATCATTAGGAAGTTTAGA	0.383																																																0													113	109	111					12																	14822676		2203	4300	6503	SO:0001589	frameshift_variant	2984				CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.1262delC	chr12.hg19:g.14822676delG	ENSP00000261170:p.Pro421fs		B2RMY6	Frame_Shift_Del	DEL	ENST00000261170.3	hg19	CCDS8664.1																																																																																				0.383	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1			-	14822676	G	-	14822676	7	5	790	1	0	1	0	1	0	0	0	0	6898	1000	35	0	2031	0	GUCY2C	12	14822676	Frame_Shift_Del	DEL	G	TCGA-SX-A7SN-01A-11D-A34Z-10		14822676	119029219	66	47001											
ITPR2	3709	hgsc.bcm.edu	37	12	26810815	26810815	+	Missense_Mutation	SNP	T	T	C			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr12:26810815T>C	ENST00000381340.3	-	18	2433	c.2017A>G	c.(2017-2019)Atg>Gtg	p.M673V		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	673					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)	TCTGCTTGCATTGAGACCACC	0.378																																																0													99	90	93					12																	26810815		1858	4096	5954	SO:0001583	missense	3709			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.2017A>G	chr12.hg19:g.26810815T>C	ENSP00000370744:p.Met673Val		O94773	Missense_Mutation	SNP	ENST00000381340.3	hg19	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	T	0.151	-1.091885	0.01858	.	.	ENSG00000123104	ENST00000381340	D	0.95103	-3.61	4.4	4.4	0.53042	Intracellular calcium-release channel (1);	0.287733	0.43260	D	0.000583	D	0.85283	0.5661	N	0.08118	0	0.80722	D	1	B	0.11235	0.004	B	0.18263	0.021	T	0.79529	-0.1766	10	0.16896	T	0.51	.	9.5261	0.39165	0.157:0.0:0.0:0.843	.	673	Q14571	ITPR2_HUMAN	V	673	ENSP00000370744:M673V	ENSP00000370744:M673V	M	-	1	0	ITPR2	26702082	1.000000	0.71417	0.882000	0.34594	0.934000	0.57294	4.236000	0.58675	1.983000	0.57843	0.533000	0.62120	ATG		0.378	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		C	26810815	T	C	26810815	3	2	790	1	0	0	0	0	1	0	0	0	7923	1493	52	3	6248	3	ITPR2	12	26810815	Missense_Mutation	SNP	T	TCGA-SX-A7SN-01A-11D-A34Z-10	11988139	26810815	107041080	67	47002											
MLL2	8085	hgsc.bcm.edu	37	12	49445630	49445630	+	Silent	SNP	A	A	G			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr12:49445630A>G	ENST00000301067.7	-	10	1835	c.1836T>C	c.(1834-1836)ccT>ccC	p.P612P		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	612	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)										GAGACTCCTCAGGTGGAGGGG	0.597																																																0													76	79	78					12																	49445630		2092	4211	6303	SO:0001819	synonymous_variant	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.1836T>C	chr12.hg19:g.49445630A>G			O14687	Silent	SNP	ENST00000301067.7	hg19	CCDS44873.1																																																																																				0.597	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			G	49445630	A	G	49445630	2	3	790	1	0	0	0	0	0	0	0	1	9623	175	7	3		3	MLL2	12	49445630	Silent	SNP	A	TCGA-SX-A7SN-01A-11D-A34Z-10	22634815	49445630	84406265	68	47003											
KERA	11081	hgsc.bcm.edu	37	12	91445296	91445296	+	Splice_Site	SNP	C	C	T			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr12:91445296C>T	ENST00000266719.3	-	3	1134		c.e3-1			NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan						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						ACATTCACACCTACAGTGACA	0.458																																																0													71	61	64					12																	91445296		2203	4299	6502	SO:0001630	splice_region_variant	11081			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.887-1G>A	chr12.hg19:g.91445296C>T				Splice_Site	SNP	ENST00000266719.3	hg19	CCDS9037.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.054257	0.36277	.	.	ENSG00000139330	ENST00000266719	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2611	0.93968	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KERA	89969427	1.000000	0.71417	0.917000	0.36280	0.020000	0.10135	7.378000	0.79679	2.655000	0.90218	0.655000	0.94253	.		0.458	KERA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407149.2	NM_007035	Intron	T	91445296	C	T	91445296	5	4	790	1	0	0	0	0	0	0	1	0	8145	695	24	2	176	2	KERA	12	91445296	Splice_Site	SNP	C	TCGA-SX-A7SN-01A-11D-A34Z-10	41999666	91445296	42406599	69	47004											
MTERFD3	80298	hgsc.bcm.edu	37	12	107371849	107371849	+	Missense_Mutation	SNP	T	T	A			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr12:107371849T>A	ENST00000552029.1	-	2	2712	c.644A>T	c.(643-645)cAa>cTa	p.Q215L	C12orf23_ENST00000551237.1_Intron|MTERFD3_ENST00000240050.4_Missense_Mutation_p.Q215L|MTERFD3_ENST00000392830.2_Missense_Mutation_p.Q215L			Q49AM1	MTEF2_HUMAN		215					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)	transcription regulatory region DNA binding (GO:0044212)			breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						AAATGGGTTTTGGCTTAACAA	0.378																																																0													44	49	48					12																	107371849		2201	4299	6500	SO:0001583	missense	80298																														ENST00000552029.1:c.644A>T	chr12.hg19:g.107371849T>A	ENSP00000447651:p.Gln215Leu		Q53HM2|Q9H4L6|Q9H7Y9	Missense_Mutation	SNP	ENST00000552029.1	hg19	CCDS9111.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.403428	0.83230	.	.	ENSG00000120832	ENST00000392830;ENST00000240050;ENST00000552029	T;T;T	0.08984	3.03;3.03;3.03	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.28962	0.0719	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00677	-1.1614	10	0.44086	T	0.13	-0.2116	16.1777	0.81874	0.0:0.0:0.0:1.0	.	215	Q49AM1	MTER3_HUMAN	L	215	ENSP00000376575:Q215L;ENSP00000240050:Q215L;ENSP00000447651:Q215L	ENSP00000240050:Q215L	Q	-	2	0	MTERFD3	105895979	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	7.698000	0.84413	2.222000	0.72286	0.383000	0.25322	CAA		0.378	MTERFD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406835.1			A	107371849	T	A	107371849	3	1	790	1	0	0	0	0	1	0	0	0	9923	1812	63	5	517	5	MTERFD3	12	107371849	Missense_Mutation	SNP	T	TCGA-SX-A7SN-01A-11D-A34Z-10	15926553	107371849	26480046	70	47005											
ALDH2	217	hgsc.bcm.edu	37	12	112220989	112220990	+	Missense_Mutation	DNP	GC	GC	AA	rs375845001		TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr12:112220989_112220990GC>AA	ENST00000261733.2	+	3	308_309	c.247_248GC>AA	c.(247-249)GCc>AAc	p.A83N	RP11-162P23.2_ENST00000546840.2_Missense_Mutation_p.P80T|ALDH2_ENST00000416293.3_Intron	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN	aldehyde dehydrogenase 2 family (mitochondrial)	83				VKAARA -> REGRPG (in Ref. 1; CAA28990). {ECO:0000305}.	alcohol metabolic process (GO:0006066)|carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|electron carrier activity (GO:0009055)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Amyl Nitrite(DB01612)|Benzyl alcohol(DB06770)|Disulfiram(DB00822)|Guanidine(DB00536)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)	AGTGAAGGCCGCCCGGGCCGCC	0.594			T	HMGA2	leiomyoma																																		Dom	yes		12	12q24.2	217	aldehyde dehydrogenase 2 family (mitochondrial)		M	0																																										SO:0001583	missense	217			M26760	CCDS9155.1, CCDS55885.1	12q24.12	2007-12-14				ENSG00000111275	1.2.1.3	"Aldehyde dehydrogenases"	404	protein-coding gene	gene with protein product		100650				4015823, 2987944	Standard	NM_000690		Approved		uc001tst.3	P05091	OTTHUMG00000169603	Exception_encountered	chr12.hg19:g.112220989_112220990delinsAA	ENSP00000261733:p.Ala83Asn		B4DW54|E7EUE5|Q03639|Q6IB13|Q6IV71	Missense_Mutation	SNP	ENST00000261733.2	hg19	CCDS9155.1																																																																																				0.594	ALDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405008.1	NM_000690		AA	112220990	GC	AA	112220989	3	1	790	1	0	0	0	0	1	0	0	0	496	1087	38	1	257	1	ALDH2	12	112220989	Missense_Mutation	DNP	GC	TCGA-SX-A7SN-01A-11D-A34Z-10	4849140	112220989	21630906	71	47006											
C12orf43	64897	hgsc.bcm.edu	37	12	121441960	121441960	+	Missense_Mutation	SNP	T	T	C			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr12:121441960T>C	ENST00000288757.3	-	6	807	c.785A>G	c.(784-786)aAc>aGc	p.N262S	C12orf43_ENST00000366211.2_Missense_Mutation_p.N221S|C12orf43_ENST00000536407.2_3'UTR|RP11-216P16.2_ENST00000606238.1_RNA|C12orf43_ENST00000537817.1_Missense_Mutation_p.N263S|C12orf43_ENST00000539736.1_Missense_Mutation_p.N252S|C12orf43_ENST00000445832.3_Missense_Mutation_p.N232S	NM_022895.1	NP_075046.1	Q96C57	CL043_HUMAN	chromosome 12 open reading frame 43	262										cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CTGGGTTCAGTTTGCAGGTAT	0.572																																																0													184	182	183					12																	121441960		2203	4300	6503	SO:0001583	missense	64897			AK022510	CCDS66486.1, CCDS66487.1	12q24.31	2012-05-30			ENSG00000157895	ENSG00000157895			25719	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001286195		Approved	FLJ12448	uc001tzh.1	Q96C57	OTTHUMG00000169150	ENST00000288757.3:c.785A>G	chr12.hg19:g.121441960T>C	ENSP00000288757:p.Asn262Ser		Q53HF0|Q9H9Z7	Missense_Mutation	SNP	ENST00000288757.3	hg19	CCDS9210.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.02|15.02	2.708809|2.708809	0.48517|0.48517	.|.	.|.	ENSG00000157895|ENSG00000157895	ENST00000445832;ENST00000288757;ENST00000537817;ENST00000536407;ENST00000366211;ENST00000539736|ENST00000546272	T;T;T;T|.	0.52983|.	0.67;0.66;0.66;0.64|.	5.5|5.5	1.86|1.86	0.25419|0.25419	.|.	1.121610|.	0.06531|.	N|.	0.741551|.	T|T	0.37919|0.37919	0.1021|0.1021	L|L	0.53249|0.53249	1.67|1.67	0.09310|0.09310	N|N	1|1	B;B;D;B;B|.	0.61697|.	0.102;0.047;0.99;0.021;0.102|.	B;B;P;B;B|.	0.49597|.	0.037;0.013;0.616;0.022;0.037|.	T|T	0.30387|0.30387	-0.9980|-0.9980	10|5	0.66056|.	D|.	0.02|.	.|.	3.2634|3.2634	0.06856|0.06856	0.1723:0.1815:0.0:0.6462|0.1723:0.1815:0.0:0.6462	.|.	252;221;263;252;262|.	G5EA44;F6TFQ5;F5H7W8;B4DWJ9;Q96C57|.	.;.;.;.;CL043_HUMAN|.	S|A	232;262;263;160;221;252|216	ENSP00000409788:N232S;ENSP00000288757:N262S;ENSP00000442224:N263S;ENSP00000437803:N252S|.	ENSP00000288757:N262S|.	N|T	-|-	2|1	0|0	C12orf43|C12orf43	119926343|119926343	0.438000|0.438000	0.25602|0.25602	0.014000|0.014000	0.15608|0.15608	0.014000|0.014000	0.08584|0.08584	0.673000|0.673000	0.25203|0.25203	0.451000|0.451000	0.26802|0.26802	0.533000|0.533000	0.62120|0.62120	AAC|ACT		0.572	C12orf43-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_022895		C	121441960	T	C	121441960	3	2	790	1	0	0	0	0	1	0	0	0	1691	1725	60	3	7	3	C12orf43	12	121441960	Missense_Mutation	SNP	T	TCGA-SX-A7SN-01A-11D-A34Z-10	9220971	121441960	12409935	72	47007											
KNTC1	9735	hgsc.bcm.edu	37	12	123089162	123089163	+	Missense_Mutation	DNP	GG	GG	AT			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr12:123089162_123089163GG>AT	ENST00000333479.7	+	49	5330_5331	c.5153_5154GG>AT	c.(5152-5154)tGG>tAT	p.W1718Y	KNTC1_ENST00000450485.2_Intron|KNTC1_ENST00000436959.3_5'UTR|KNTC1_ENST00000537348.1_Missense_Mutation_p.W143Y	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1718					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)		GCTGAGAGATGGCTACAGAATA	0.337																																																0																																										SO:0001583	missense	9735				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	Exception_encountered	chr12.hg19:g.123089162_123089163delinsAT	ENSP00000328236:p.Trp1718Tyr		A7E2C4|B3KSG2	Nonsense_Mutation|Missense_Mutation	SNP	ENST00000333479.7	hg19	CCDS45002.1																																																																																				0.337	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			AT	123089163	GG	AT	123089162	3	1	790	1	0	0	0	0	1	0	0	0	8430	1357	47	2	5343	2	KNTC1	12	123089162	Missense_Mutation	DNP	GG	TCGA-SX-A7SN-01A-11D-A34Z-10	1647202	123089162	10762733	73	47008											
CCDC62	84660	hgsc.bcm.edu	37	12	123285813	123285813	+	Missense_Mutation	SNP	G	G	A			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr12:123285813G>A	ENST00000253079.6	+	9	1464	c.1120G>A	c.(1120-1122)Gat>Aat	p.D374N	CCDC62_ENST00000392441.4_Missense_Mutation_p.D374N|CCDC62_ENST00000392440.2_Missense_Mutation_p.D135N|CCDC62_ENST00000537566.1_Missense_Mutation_p.D135N	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	374					cellular response to estradiol stimulus (GO:0071392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		GAGCTCTTGCGATGAATGCAA	0.383																																																0													97	91	93					12																	123285813		2203	4300	6503	SO:0001583	missense	84660				CCDS9238.1	12q24.31	2009-08-18			ENSG00000130783	ENSG00000130783			30723	protein-coding gene	gene with protein product	"cancer/testis antigen 109"	613481				18563714, 19126643	Standard	NM_201435		Approved	TSP-NY, FLJ40344, CT109, ERAP75	uc001udc.3	Q6P9F0	OTTHUMG00000168764	ENST00000253079.6:c.1120G>A	chr12.hg19:g.123285813G>A	ENSP00000253079:p.Asp374Asn		A8K8V1|B3KUP3|Q6ZVF2|Q86VJ0|Q9BYZ5	Missense_Mutation	SNP	ENST00000253079.6	hg19	CCDS9238.1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.668017	0.67814	.	.	ENSG00000130783	ENST00000253079;ENST00000392441;ENST00000537566;ENST00000392440	T;T;T;T	0.59364	0.92;0.91;0.27;0.27	5.62	2.84	0.33178	.	0.538297	0.16861	N	0.196523	T	0.46249	0.1383	L	0.59436	1.845	0.09310	N	1	B;P;B	0.44281	0.212;0.831;0.066	B;B;B	0.33042	0.029;0.157;0.011	T	0.41592	-0.9500	10	0.87932	D	0	-2.9694	7.8178	0.29269	0.2517:0.0:0.7483:0.0	.	374;135;374	Q6P9F0-2;Q6P9F0-3;Q6P9F0	.;.;CCD62_HUMAN	N	374;374;135;135	ENSP00000253079:D374N;ENSP00000376236:D374N;ENSP00000445045:D135N;ENSP00000376235:D135N	ENSP00000253079:D374N	D	+	1	0	CCDC62	121851766	0.519000	0.26242	0.000000	0.03702	0.010000	0.07245	2.499000	0.45372	0.344000	0.23847	0.655000	0.94253	GAT		0.383	CCDC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400930.1	NM_032573		A	123285813	G	A	123285813	3	1	790	1	0	0	0	0	1	0	0	0	2835	1058	37	1	1154	1	CCDC62	12	123285813	Missense_Mutation	SNP	G	TCGA-SX-A7SN-01A-11D-A34Z-10	196651	123285813	10566082	74	47009											
PCDH20	64881	hgsc.bcm.edu	37	13	61986120	61986120	+	Silent	SNP	C	C	T			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr13:61986120C>T	ENST00000409186.1	-	5	4217	c.2112G>A	c.(2110-2112)caG>caA	p.Q704Q	PCDH20_ENST00000409204.4_Silent_p.Q704Q			Q8N6Y1	PCD20_HUMAN	protocadherin 20	704	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)|poly(A) RNA binding (GO:0044822)	p.Q704H(1)|p.Q677H(1)		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)		AGGAGCTTTGCTGCTCTCTGT	0.463																																																2	Substitution - Missense(2)	lung(2)											96	103	101					13																	61986120		2203	4299	6502	SO:0001819	synonymous_variant	64881			AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"Cadherins / Protocadherins : Non-clustered"	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.2112G>A	chr13.hg19:g.61986120C>T			A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Silent	SNP	ENST00000409186.1	hg19	CCDS9442.2																																																																																				0.463	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		T	61986120	C	T	61986120	2	4	790	1	0	0	0	0	0	0	0	1	11517	796	28	2		2	PCDH20	13	61986120	Silent	SNP	C	TCGA-SX-A7SN-01A-11D-A34Z-10		61986120	53183758	75	47010											
RAB20	55647	hgsc.bcm.edu	37	13	111213813	111213813	+	Missense_Mutation	SNP	C	C	G			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr13:111213813C>G	ENST00000267328.3	-	1	267	c.54G>C	c.(52-54)aaG>aaC	p.K18N		NM_017817.1	NP_060287.1	Q9NX57	RAB20_HUMAN	RAB20, member RAS oncogene family	18					phagosome acidification (GO:0090383)|phagosome-lysosome fusion (GO:0090385)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)	GTP binding (GO:0005525)			endometrium(2)|large_intestine(2)|lung(3)	7	all_cancers(4;1.54e-11)|all_epithelial(4;1.22e-06)|all_lung(23;1e-05)|Lung NSC(43;0.000453)|Colorectal(4;0.00323)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.197)			GCAGCGACGTCTTCCCCACGT	0.652																																																0													62	57	59					13																	111213813		2203	4300	6503	SO:0001583	missense	55647			AK000436	CCDS9512.1	13q34	2008-07-18			ENSG00000139832	ENSG00000139832		"RAB, member RAS oncogene"	18260	protein-coding gene	gene with protein product						11697911	Standard	NM_017817		Approved	FLJ20429	uc001vqy.3	Q9NX57	OTTHUMG00000017343	ENST00000267328.3:c.54G>C	chr13.hg19:g.111213813C>G	ENSP00000267328:p.Lys18Asn		Q5T9X5|Q9NX49	Missense_Mutation	SNP	ENST00000267328.3	hg19	CCDS9512.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.620006	0.87460	.	.	ENSG00000139832	ENST00000267328	D	0.94232	-3.38	4.06	2.23	0.28157	Small GTP-binding protein domain (1);	0.049143	0.85682	D	0.000000	D	0.96778	0.8948	M	0.92077	3.27	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96147	0.9105	10	0.87932	D	0	1.1772	9.4073	0.38469	0.0:0.8181:0.0:0.1819	.	18	Q9NX57	RAB20_HUMAN	N	18	ENSP00000267328:K18N	ENSP00000267328:K18N	K	-	3	2	RAB20	110011814	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.658000	0.46733	0.897000	0.36392	0.561000	0.74099	AAG		0.652	RAB20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045760.2	NM_017817		G	111213813	C	G	111213813	3	3	790	1	0	0	0	0	1	0	0	0	12913	912	32	4	658	4	RAB20	13	111213813	Missense_Mutation	SNP	C	TCGA-SX-A7SN-01A-11D-A34Z-10	49227693	111213813	3956065	76	47011											
CEBPE	1053	hgsc.bcm.edu	37	14	23586764	23586764	+	Missense_Mutation	SNP	G	G	A			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr14:23586764G>A	ENST00000206513.5	-	2	1302	c.778C>T	c.(778-780)Ctc>Ttc	p.L260F		NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN	CCAAT/enhancer binding protein (C/EBP), epsilon	260	bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular response to lipopolysaccharide (GO:0071222)|cytokine biosynthetic process (GO:0042089)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|macrophage differentiation (GO:0030225)|phagocytosis (GO:0006909)|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)			large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		AGGTTGCGGAGGGTGTCTAGC	0.647																																					NSCLC(63;1230 1818 14565 22565)											0													62	48	53					14																	23586764		2203	4300	6503	SO:0001583	missense	1053				CCDS9589.1	14q11.2	2014-09-17			ENSG00000092067	ENSG00000092067		"basic leucine zipper proteins"	1836	protein-coding gene	gene with protein product		600749				8661101	Standard	NM_001805		Approved	CRP1	uc001wiv.2	Q15744	OTTHUMG00000028719	ENST00000206513.5:c.778C>T	chr14.hg19:g.23586764G>A	ENSP00000206513:p.Leu260Phe		Q15745|Q8IYI2|Q99803	Missense_Mutation	SNP	ENST00000206513.5	hg19	CCDS9589.1	.	.	.	.	.	.	.	.	.	.	G	19.51	3.840809	0.71488	.	.	ENSG00000092067	ENST00000206513	T	0.52295	0.67	5.38	4.48	0.54585	Basic-leucine zipper (bZIP) transcription factor (2);	0.000000	0.85682	D	0.000000	T	0.67021	0.2849	M	0.81239	2.535	0.45899	D	0.998748	D	0.89917	1.0	D	0.83275	0.996	T	0.70479	-0.4860	10	0.87932	D	0	-21.9209	9.8241	0.40901	0.1613:0.0:0.8387:0.0	.	260	Q15744	CEBPE_HUMAN	F	260	ENSP00000206513:L260F	ENSP00000206513:L260F	L	-	1	0	CEBPE	22656604	1.000000	0.71417	0.850000	0.33497	0.996000	0.88848	3.362000	0.52314	2.532000	0.85374	0.655000	0.94253	CTC		0.647	CEBPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071716.2	NM_001805		A	23586764	G	A	23586764	3	1	790	1	0	0	0	0	1	0	0	0	3204	1000	35	2	71	2	CEBPE	14	23586764	Missense_Mutation	SNP	G	TCGA-SX-A7SN-01A-11D-A34Z-10		23586764	83762776	77	47012											
SDR39U1	23351	hgsc.bcm.edu	37	14	24911432	24911432	+	IGR	SNP	T	T	C	rs201052867		TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr14:24911432T>C	ENST00000251343.5	+	0	6225				SDR39U1_ENST00000399390.1_5'Flank|SDR39U1_ENST00000538105.2_Missense_Mutation_p.M12V|SDR39U1_ENST00000555561.1_5'Flank|SDR39U1_ENST00000399395.3_Missense_Mutation_p.D53G|SDR39U1_ENST00000553930.1_5'UTR|SDR39U1_ENST00000555365.1_Intron|SDR39U1_ENST00000554698.1_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						GACGGCGGCATCGCAGCTCGG	0.667																																																0													26	30	29					14																	24911432		2010	4170	6180	SO:0001628	intergenic_variant	56948			AB002321	CCDS32058.1	14q11.2	2010-11-23	2009-10-14	2009-10-14	ENSG00000100441	ENSG00000100441			20166	protein-coding gene	gene with protein product			"KIAA0323"	KIAA0323		17114934	Standard	NM_015299		Approved		uc001wph.4	O15037			chr14.hg19:g.24911432T>C			Q86TZ6|Q8IUQ2|Q96BA9	Missense_Mutation	SNP	ENST00000251343.5	hg19	CCDS32058.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.24|14.24	2.476759|2.476759	0.44044|0.44044	.|.	.|.	ENSG00000100445|ENSG00000100445	ENST00000399395;ENST00000336353|ENST00000538105	D|T	0.95853|0.21191	-3.83|2.02	5.24|5.24	5.24|5.24	0.73138|0.73138	.|.	0.207799|.	0.49305|.	N|.	0.000144|.	T|T	0.23492|0.23492	0.0568|0.0568	M|M	0.66297|0.66297	2.02|2.02	0.80722|0.80722	D|D	1|1	P|B	0.35272|0.11235	0.493|0.004	B|B	0.32289|0.12837	0.143|0.008	T|T	0.03278|0.03278	-1.1053|-1.1053	10|8	0.72032|.	D|.	0.01|.	-20.9366|-20.9366	11.7055|11.7055	0.51595|0.51595	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	53|12	Q9NRG7-2|F6RWC2	.|.	G|V	53;79|12	ENSP00000382327:D53G|ENSP00000446077:M12V	ENSP00000336854:D79G|.	D|M	-|-	2|1	0|0	SDR39U1|SDR39U1	23981272|23981272	1.000000|1.000000	0.71417|0.71417	0.968000|0.968000	0.41197|0.41197	0.642000|0.642000	0.38348|0.38348	4.911000|4.911000	0.63328|0.63328	2.330000|2.330000	0.79161|0.79161	0.528000|0.528000	0.53228|0.53228	GAT|ATG		0.667	KHNYN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412928.1			C	24911432	T	C	24911432	1	2	790	0	1	0	0	0	0	0	0	0	13978	1435	50	3		3	SDR39U1	14	24911432	IGR	SNP	T	TCGA-SX-A7SN-01A-11D-A34Z-10	1324668	24911432	82438108	78	47013											
SERPINA3	12	hgsc.bcm.edu	37	14	95089993	95089993	+	Missense_Mutation	SNP	G	G	A			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr14:95089993G>A	ENST00000467132.1	+	5	2262	c.1114G>A	c.(1114-1116)Gca>Aca	p.A372T	SERPINA3_ENST00000482740.1_Missense_Mutation_p.A154T|SERPINA3_ENST00000393078.3_Missense_Mutation_p.A372T|RP11-986E7.7_ENST00000553947.1_3'UTR|SERPINA3_ENST00000393080.4_Missense_Mutation_p.A372T			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	372	RCL.				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)		GGGCACAGAAGCATCTGCTGC	0.512																																																0													163	140	148					14																	95089993		2203	4300	6503	SO:0001583	missense	12			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.1114G>A	chr14.hg19:g.95089993G>A	ENSP00000450540:p.Ala372Thr		B3KVQ7|Q13703|Q2TU87|Q2TU88|Q59GP9|Q6LBY8|Q6LDT7|Q6NSC9|Q8N177|Q96DW8|Q9UC47|Q9UNU9	Missense_Mutation	SNP	ENST00000467132.1	hg19	CCDS32150.1	.	.	.	.	.	.	.	.	.	.	G	34	5.396546	0.96009	.	.	ENSG00000196136	ENST00000553947;ENST00000393078;ENST00000393080;ENST00000467132;ENST00000482740	D;D;D;D;D	0.91124	-2.79;-2.79;-2.79;-2.79;-2.79	4.95	4.03	0.46877	Serpin domain (3);	0.088586	0.47093	D	0.000244	D	0.93265	0.7854	M	0.92555	3.32	0.45962	D	0.998783	P;P	0.48503	0.656;0.911	P;B	0.44673	0.457;0.44	D	0.94127	0.7385	10	0.87932	D	0	.	14.1908	0.65637	0.0:0.1511:0.8489:0.0	.	372;397	P01011;G3V5I3	AACT_HUMAN;.	T	397;372;372;372;154	ENSP00000452367:A397T;ENSP00000376793:A372T;ENSP00000376795:A372T;ENSP00000450540:A372T;ENSP00000451119:A154T	ENSP00000376793:A372T	A	+	1	0	SERPINA3	94159746	1.000000	0.71417	0.482000	0.27366	0.560000	0.35617	9.300000	0.96151	1.161000	0.42604	0.557000	0.71058	GCA		0.512	SERPINA3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268080.3	NM_001085		A	95089993	G	A	95089993	3	1	790	1	0	0	0	0	1	0	0	0	14096	971	34	2	1128	2	SERPINA3	14	95089993	Missense_Mutation	SNP	G	TCGA-SX-A7SN-01A-11D-A34Z-10	70178561	95089993	12259547	79	47014											
C14orf49	161176	hgsc.bcm.edu	37	14	95942145	95942145	+	Missense_Mutation	SNP	G	G	A			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr14:95942145G>A	ENST00000334258.5	-	1	28	c.14C>T	c.(13-15)cCc>cTc	p.P5L	SYNE3_ENST00000557275.1_Missense_Mutation_p.P5L|SYNE3_ENST00000553340.1_Missense_Mutation_p.P5L	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	5					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						GTCGTCCTGGGGCTGCTGAGT	0.617																																																0																																										SO:0001583	missense	161176			AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"chromosome 14 open reading frame 49"	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.14C>T	chr14.hg19:g.95942145G>A	ENSP00000334308:p.Pro5Leu		A6H8H3|Q86SX5|Q8N7G8	Missense_Mutation	SNP	ENST00000334258.5	hg19	CCDS9935.1	.	.	.	.	.	.	.	.	.	.	G	12.65	2.003039	0.35320	.	.	ENSG00000176438	ENST00000334258;ENST00000557275;ENST00000553340	T;T;T	0.09723	3.53;3.52;2.95	5.05	4.15	0.48705	.	0.837651	0.09723	N	0.764118	T	0.08313	0.0207	N	0.20685	0.6	0.46203	D	0.998922	B;B;B	0.12013	0.005;0.005;0.003	B;B;B	0.11329	0.006;0.006;0.003	T	0.16748	-1.0392	10	0.29301	T	0.29	-13.6362	10.1912	0.43028	0.1754:0.0:0.8246:0.0	.	5;5;5	Q6ZMZ3-2;Q6ZMZ3-3;Q6ZMZ3	.;.;SYNE3_HUMAN	L	5	ENSP00000334308:P5L;ENSP00000450562:P5L;ENSP00000450774:P5L	ENSP00000334308:P5L	P	-	2	0	C14orf49	95011898	1.000000	0.71417	0.996000	0.52242	0.984000	0.73092	3.235000	0.51328	1.115000	0.41800	0.462000	0.41574	CCC		0.617	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592		A	95942145	G	A	95942145	3	1	790	1	0	0	0	0	1	0	0	0	1778	1232	43	2	2981	2	C14orf49	14	95942145	Missense_Mutation	SNP	G	TCGA-SX-A7SN-01A-11D-A34Z-10	852152	95942145	11407395	80	47015											
NARG2	79664	hgsc.bcm.edu	37	15	60741577	60741577	+	Missense_Mutation	SNP	A	A	T			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr15:60741577A>T	ENST00000261520.4	-	10	1823	c.1589T>A	c.(1588-1590)aTg>aAg	p.M530K	NARG2_ENST00000439632.1_Missense_Mutation_p.M393K	NM_024611.4	NP_078887.2														breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						ATCTATAGTCATATCATTTTT	0.328																																																0													52	54	53					15																	60741577		2203	4297	6500	SO:0001583	missense	79664																														ENST00000261520.4:c.1589T>A	chr15.hg19:g.60741577A>T	ENSP00000261520:p.Met530Lys			Missense_Mutation	SNP	ENST00000261520.4	hg19	CCDS10176.1	.	.	.	.	.	.	.	.	.	.	A	0.372	-0.933198	0.02359	.	.	ENSG00000128915	ENST00000261520;ENST00000439632	.	.	.	5.06	0.943	0.19531	.	0.776640	0.12418	N	0.470660	T	0.25865	0.0630	N	0.19112	0.55	0.09310	N	1	B;B	0.26400	0.148;0.016	B;B	0.24848	0.056;0.01	T	0.19257	-1.0311	9	0.28530	T	0.3	-0.0038	9.6349	0.39802	0.7606:0.0:0.2394:0.0	.	198;530	B3KXT2;Q659A1	.;NARG2_HUMAN	K	530;393	.	ENSP00000261520:M530K	M	-	2	0	NARG2	58528869	0.003000	0.15002	0.001000	0.08648	0.005000	0.04900	1.397000	0.34543	0.268000	0.21939	0.528000	0.53228	ATG		0.328	NARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256136.1			T	60741577	A	T	60741577	3	4	790	1	0	0	0	0	1	0	0	0	10171	217	8	5	1387	5	NARG2	15	60741577	Missense_Mutation	SNP	A	TCGA-SX-A7SN-01A-11D-A34Z-10		60741577	41789815	81	47016											
RORA	6095	hgsc.bcm.edu	37	15	60803577	60803577	+	Missense_Mutation	SNP	A	A	G			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr15:60803577A>G	ENST00000335670.6	-	5	768	c.668T>C	c.(667-669)cTg>cCg	p.L223P	RORA_ENST00000261523.5_Missense_Mutation_p.L256P|RP11-219B17.1_ENST00000501579.2_RNA|RP11-219B17.1_ENST00000558235.1_RNA|RORA_ENST00000449337.2_Missense_Mutation_p.L168P|RP11-219B17.1_ENST00000558140.1_RNA|RORA_ENST00000560004.1_5'Flank|RP11-219B17.1_ENST00000559824.1_RNA|RP11-219B17.1_ENST00000559902.1_RNA|RORA_ENST00000309157.4_Missense_Mutation_p.L248P	NM_134261.2	NP_599023.1	P35398	RORA_HUMAN	RAR-related orphan receptor A	223	Hinge.				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						CTGTATGTCCAGGTAGAAGCT	0.532																																																0													193	148	163					15																	60803577		2203	4300	6503	SO:0001583	missense	6095			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.668T>C	chr15.hg19:g.60803577A>G	ENSP00000335087:p.Leu223Pro		P35397|P35399|P45445|Q495X4|Q96H83	Missense_Mutation	SNP	ENST00000335670.6	hg19	CCDS10177.1	.	.	.	.	.	.	.	.	.	.	A	16.23	3.063733	0.55432	.	.	ENSG00000069667	ENST00000335670;ENST00000449337;ENST00000309157;ENST00000261523	D;D;D;D	0.95001	-3.53;-3.52;-3.58;-3.49	5.9	5.9	0.94986	.	0.065297	0.64402	D	0.000006	D	0.92854	0.7727	L	0.38838	1.175	0.80722	D	1	B;B;D;B	0.54207	0.006;0.005;0.965;0.024	B;B;P;B	0.48488	0.012;0.023;0.579;0.038	D	0.91956	0.5575	10	0.31617	T	0.26	.	16.3322	0.83039	1.0:0.0:0.0:0.0	.	223;248;256;168	P35398-2;P35398-3;P35398;P35398-4	.;.;RORA_HUMAN;.	P	223;168;248;256	ENSP00000335087:L223P;ENSP00000402971:L168P;ENSP00000309753:L248P;ENSP00000261523:L256P	ENSP00000261523:L256P	L	-	2	0	RORA	58590869	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.948000	0.93006	2.251000	0.74343	0.528000	0.53228	CTG		0.532	RORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256142.2			G	60803577	A	G	60803577	3	3	790	1	0	0	0	0	1	0	0	0	13534	188	7	3	931	3	RORA	15	60803577	Missense_Mutation	SNP	A	TCGA-SX-A7SN-01A-11D-A34Z-10	62000	60803577	41727815	82	47017											
AKAP13	11214	hgsc.bcm.edu	37	15	86122646	86122646	+	Silent	SNP	C	C	T			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr15:86122646C>T	ENST00000394518.2	+	7	1442	c.1347C>T	c.(1345-1347)gaC>gaT	p.D449D	AKAP13_ENST00000361243.2_Silent_p.D449D|RP11-815J21.2_ENST00000561409.1_RNA	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	449					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						TTCAGAGAGACTTGGTCATGG	0.512																																					Melanoma(94;603 1453 3280 32295 32951)											0													63	67	66					15																	86122646		2202	4299	6501	SO:0001819	synonymous_variant	11214			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"A-kinase anchor proteins", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	371	protein-coding gene	gene with protein product		604686	"lymphoid blast crisis oncogene"	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.1347C>T	chr15.hg19:g.86122646C>T			Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Silent	SNP	ENST00000394518.2	hg19	CCDS32319.1																																																																																				0.512	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		T	86122646	C	T	86122646	2	4	790	1	0	0	0	0	0	0	0	1	449	564	20	2		2	AKAP13	15	86122646	Silent	SNP	C	TCGA-SX-A7SN-01A-11D-A34Z-10	25319069	86122646	16408746	83	47018											
HMOX2	3163	hgsc.bcm.edu	37	16	4557964	4557964	+	Missense_Mutation	SNP	A	A	G			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr16:4557964A>G	ENST00000570646.1	+	4	1060	c.455A>G	c.(454-456)cAt>cGt	p.H152R	HMOX2_ENST00000414777.1_Missense_Mutation_p.H152R|HMOX2_ENST00000575120.1_Missense_Mutation_p.H123R|HMOX2_ENST00000398595.3_Missense_Mutation_p.H152R|HMOX2_ENST00000406590.2_Missense_Mutation_p.H152R|HMOX2_ENST00000458134.3_Missense_Mutation_p.H152R|HMOX2_ENST00000219700.6_Missense_Mutation_p.H152R	NM_002134.3	NP_002125.3	P30519	HMOX2_HUMAN	heme oxygenase (decycling) 2	152					cellular iron ion homeostasis (GO:0006879)|heme catabolic process (GO:0042167)|heme oxidation (GO:0006788)|porphyrin-containing compound metabolic process (GO:0006778)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heme oxygenase (decyclizing) activity (GO:0004392)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8						CTGGTGGCCCATGCATACACC	0.627																																																0													43	45	45					16																	4557964		2197	4300	6497	SO:0001583	missense	3163				CCDS10517.1, CCDS66931.1, CCDS73818.1	16p13.3	2008-02-05			ENSG00000103415	ENSG00000103415	1.14.99.3		5014	protein-coding gene	gene with protein product		141251				1575508	Standard	NM_002134		Approved	HO-2	uc002cwq.4	P30519	OTTHUMG00000129473	ENST00000570646.1:c.455A>G	chr16.hg19:g.4557964A>G	ENSP00000459214:p.His152Arg		A8MT35|D3DUD5|I3L430|O60605	Missense_Mutation	SNP	ENST00000570646.1	hg19	CCDS10517.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.618349	0.87359	.	.	ENSG00000103415	ENST00000406590;ENST00000458134;ENST00000219700;ENST00000414777;ENST00000398595	T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53	5.62	5.62	0.85841	Haem oxygenase conserved site (1);Haem oxygenase-like, multi-helical (2);	0.000000	0.85682	D	0.000000	T	0.68357	0.2992	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	T	0.79468	-0.1791	10	0.87932	D	0	-17.4632	14.6409	0.68723	1.0:0.0:0.0:0.0	.	152;152	B3KSE0;P30519	.;HMOX2_HUMAN	R	152	ENSP00000385100:H152R;ENSP00000394103:H152R;ENSP00000219700:H152R;ENSP00000391637:H152R;ENSP00000381595:H152R	ENSP00000219700:H152R	H	+	2	0	HMOX2	4497965	1.000000	0.71417	0.997000	0.53966	0.972000	0.66771	9.339000	0.96797	2.142000	0.66516	0.459000	0.35465	CAT		0.627	HMOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251636.2			G	4557964	A	G	4557964	3	3	790	1	0	0	0	0	1	0	0	0	7246	217	8	3	465	3	HMOX2	16	4557964	Missense_Mutation	SNP	A	TCGA-SX-A7SN-01A-11D-A34Z-10		4557964	85796789	84	47019											
CES1	1066	hgsc.bcm.edu	37	16	55846940	55846940	+	Missense_Mutation	SNP	C	C	T	rs138161688		TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr16:55846940C>T	ENST00000361503.4	-	9	1088	c.958G>A	c.(958-960)Ggc>Agc	p.G320S	CES1_ENST00000422046.2_Missense_Mutation_p.G320S|CES1_ENST00000360526.3_Missense_Mutation_p.G321S			P23141	EST1_HUMAN	carboxylesterase 1	320					epithelial cell differentiation (GO:0030855)|metabolic process (GO:0008152)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)								all cancers(182;0.13)|Epithelial(162;0.137)	Benzocaine(DB01086)|Capecitabine(DB01101)|Ciclesonide(DB01410)|Clopidogrel(DB00758)|Cyclandelate(DB04838)|Dabigatran etexilate(DB06695)|Indomethacin(DB00328)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Mycophenolate mofetil(DB00688)|Oseltamivir(DB00198)|Probucol(DB01599)|Rufinamide(DB06201)|Tamoxifen(DB00675)|Trandolapril(DB00519)	ATCACAGTGCCCAGAAGGGGT	0.532																																					NSCLC(162;1801 2756 42904 52896)											0								G	SER/GLY,SER/GLY,SER/GLY	0,4396		0,0,2198	104	100	101		958,961,958	-7.7	0	16	dbSNP_134	101	1,8599		0,1,4299	no	missense,missense,missense	CES1	NM_001025194.1,NM_001025195.1,NM_001266.4	56,56,56	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	320/568,321/569,320/567	55846940	1,12995	2198	4300	6498	SO:0001583	missense	1066			BC012418	CCDS32450.1, CCDS45488.1, CCDS45489.1	16q22.2	2010-10-12	2010-10-12		ENSG00000198848	ENSG00000198848	3.1.1.1	"Carboxylesterases"	1863	protein-coding gene	gene with protein product	"human monocyte/macrophage serine esterase 1"	114835	"carboxylesterase 1 (monocyte/macrophage serine esterase 1)"			2070086, 20931200	Standard	XM_005255774		Approved	HMSE, CES2, HMSE1, SES1, CEH, CES1A1, CES1A2	uc002eil.3	P23141		ENST00000361503.4:c.958G>A	chr16.hg19:g.55846940C>T	ENSP00000355193:p.Gly320Ser		A6NIM1|A8K3K8|A8K844|E9PAU8|P82127|Q00015|Q13657|Q14062|Q16737|Q16788|Q549X7|Q549X8|Q86UK2|Q96EE8|Q9UC52|Q9UDG8|Q9UK77|Q9ULY2	Missense_Mutation	SNP	ENST00000361503.4	hg19	CCDS45488.1	.	.	.	.	.	.	.	.	.	.	.	6.832	0.522731	0.13066	0.0	1.16E-4	ENSG00000198848	ENST00000360526;ENST00000361503;ENST00000422046;ENST00000426667	T;T;T	0.08634	3.22;3.22;3.07	3.85	-7.71	0.01254	Carboxylesterase, type B (1);	1.383420	0.04583	N	0.395340	T	0.02533	0.0077	N	0.02412	-0.56	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.15052	0.012;0.012;0.007	T	0.42344	-0.9457	10	0.32370	T	0.25	.	2.9914	0.05984	0.1197:0.3586:0.3581:0.1636	.	320;320;321	E9PAU8;P23141;P23141-2	.;EST1_HUMAN;.	S	321;320;320;185	ENSP00000353720:G321S;ENSP00000355193:G320S;ENSP00000390492:G320S	ENSP00000353720:G321S	G	-	1	0	CES1	54404441	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.577000	0.02127	-1.091000	0.03065	-1.907000	0.00523	GGC		0.532	CES1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000433285.1	NM_001266		T	55846940	C	T	55846940	3	4	790	1	0	0	0	0	1	0	0	0	3271	623	22	2	769	2	CES1	16	55846940	Missense_Mutation	SNP	C	TCGA-SX-A7SN-01A-11D-A34Z-10	51288976	55846940	34507813	85	47020											
E2F4	1874	hgsc.bcm.edu	37	16	67226690	67226690	+	Silent	SNP	G	G	A	rs143700278		TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr16:67226690G>A	ENST00000379378.3	+	2	221	c.162G>A	c.(160-162)caG>caA	p.Q54Q	EXOC3L1_ENST00000314586.6_5'Flank|E2F4_ENST00000564718.1_3'UTR|EXOC3L1_ENST00000562887.1_5'Flank	NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding	54	Leucine-zipper.				blood circulation (GO:0008015)|cell volume homeostasis (GO:0006884)|cilium assembly (GO:0042384)|epithelial cell development (GO:0002064)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of cell size (GO:0008361)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		CTGTACGCCAGAAGCGGCGGA	0.547																																																0								G		0,4394		0,0,2197	44	38	40		162	4.8	1	16	dbSNP_134	40	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	E2F4	NM_001950.3		0,2,6495	AA,AG,GG		0.0233,0.0,0.0154		54/414	67226690	2,12992	2197	4300	6497	SO:0001819	synonymous_variant	1874			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	ENST00000379378.3:c.162G>A	chr16.hg19:g.67226690G>A			A6NGR8|B5BU56|Q12991|Q15328	Silent	SNP	ENST00000379378.3	hg19	CCDS32464.1																																																																																				0.547	E2F4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421565.1	NM_001950		A	67226690	G	A	67226690	2	1	790	1	0	0	0	0	0	0	0	1	4871	933	33	2		2	E2F4	16	67226690	Silent	SNP	G	TCGA-SX-A7SN-01A-11D-A34Z-10	11379750	67226690	23128063	86	47021											
AARS	16	hgsc.bcm.edu	37	16	70316587	70316587	+	Missense_Mutation	SNP	T	T	C	rs77753666		TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr16:70316587T>C	ENST00000261772.8	-	2	223	c.80A>G	c.(79-81)cAc>cGc	p.H27R		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)		GGCAGACGAGTGAACATACGT	0.448																																																0													175	164	168					16																	70316587		2198	4300	6498	SO:0001583	missense	16			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.80A>G	chr16.hg19:g.70316587T>C	ENSP00000261772:p.His27Arg			Missense_Mutation	SNP	ENST00000261772.8	hg19	CCDS32474.1	.	.	.	.	.	.	.	.	.	.	T	5.294	0.239679	0.10023	.	.	ENSG00000090861	ENST00000261772	D	0.81739	-1.53	5.56	5.56	0.83823	Alanyl-tRNA synthetase, class IIc, core domain (1);Alanyl-tRNA synthetase, class IIc, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.84561	0.5499	L	0.42487	1.325	0.80722	D	1	D	0.67145	0.996	D	0.75020	0.985	T	0.82372	-0.0490	10	0.27082	T	0.32	-19.0749	13.6719	0.62430	0.0:0.0:0.0:1.0	.	27	P49588	SYAC_HUMAN	R	27	ENSP00000261772:H27R	ENSP00000261772:H27R	H	-	2	0	AARS	68874088	1.000000	0.71417	1.000000	0.80357	0.174000	0.22865	7.799000	0.85936	2.108000	0.64289	0.482000	0.46254	CAC		0.448	AARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435021.2	NM_001605		C	70316587	T	C	70316587	3	2	790	1	0	0	0	0	1	0	0	0	19	1696	59	3	2906	3	AARS	16	70316587	Missense_Mutation	SNP	T	TCGA-SX-A7SN-01A-11D-A34Z-10	3089897	70316587	20038166	87	47022											
FAM92B	339145	hgsc.bcm.edu	37	16	85144008	85144008	+	Missense_Mutation	SNP	G	G	C			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr16:85144008G>C	ENST00000539556.1	-	2	234	c.79C>G	c.(79-81)Cag>Gag	p.Q27E		NM_198491.1	NP_940893.1	Q6ZTR7	FA92B_HUMAN	family with sequence similarity 92, member B	27										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	16						GAGCAGAACTGCCCAAAGTAC	0.627																																																0													58	58	58					16																	85144008		2198	4300	6498	SO:0001583	missense	339145				CCDS32500.1	16q24.1	2005-09-22				ENSG00000153789			24781	protein-coding gene	gene with protein product						12477932	Standard	NM_198491		Approved	FLJ44299	uc021tlz.1	Q6ZTR7		ENST00000539556.1:c.79C>G	chr16.hg19:g.85144008G>C	ENSP00000443411:p.Gln27Glu			Missense_Mutation	SNP	ENST00000539556.1	hg19	CCDS32500.1	.	.	.	.	.	.	.	.	.	.	G	6.166	0.398907	0.11696	.	.	ENSG00000153789	ENST00000393246;ENST00000539556	T	0.27256	1.68	5.12	4.15	0.48705	.	0.216981	0.31936	N	0.006838	T	0.16342	0.0393	L	0.31578	0.945	0.28775	N	0.900143	B	0.32939	0.391	B	0.33799	0.17	T	0.15521	-1.0434	10	0.02654	T	1	-29.3987	12.675	0.56889	0.0:0.0:0.8335:0.1665	.	27	Q6ZTR7	FA92B_HUMAN	E	27	ENSP00000443411:Q27E	ENSP00000376937:Q27E	Q	-	1	0	FAM92B	83701509	1.000000	0.71417	0.986000	0.45419	0.959000	0.62525	2.336000	0.43938	1.116000	0.41820	0.561000	0.74099	CAG		0.627	FAM92B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_198491		C	85144008	G	C	85144008	3	2	790	1	0	0	0	0	1	0	0	0	5655	1328	46	4	863	4	FAM92B	16	85144008	Missense_Mutation	SNP	G	TCGA-SX-A7SN-01A-11D-A34Z-10	14827421	85144008	5210745	88	47023											
PIK3R5	23533	hgsc.bcm.edu	37	17	8794161	8794161	+	Missense_Mutation	SNP	G	G	A			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr17:8794161G>A	ENST00000447110.1	-	7	675	c.551C>T	c.(550-552)aCg>aTg	p.T184M	PIK3R5_ENST00000581552.1_Missense_Mutation_p.T184M|PIK3R5_ENST00000584803.1_Missense_Mutation_p.T184M	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	184					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						GTGTCCGGGCGTACTCAGCTT	0.647																																					NSCLC(18;589 615 7696 20311 50332)											0													153	116	129					17																	8794161		2203	4300	6503	SO:0001583	missense	23533			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.551C>T	chr17.hg19:g.8794161G>A	ENSP00000392812:p.Thr184Met		B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Missense_Mutation	SNP	ENST00000447110.1	hg19	CCDS11147.1	.	.	.	.	.	.	.	.	.	.	G	1.328	-0.597516	0.03771	.	.	ENSG00000141506	ENST00000269300;ENST00000447110	T	0.77620	-1.11	5.24	4.06	0.47325	.	0.930217	0.09115	N	0.846548	T	0.71048	0.3294	N	0.19112	0.55	0.09310	N	1	P	0.43542	0.81	P	0.50109	0.631	T	0.60089	-0.7331	10	0.44086	T	0.13	-6.0E-4	6.061	0.19839	0.0865:0.1349:0.6404:0.1381	.	184	Q8WYR1	PI3R5_HUMAN	M	184	ENSP00000392812:T184M	ENSP00000269300:T184M	T	-	2	0	PIK3R5	8734886	0.002000	0.14202	0.004000	0.12327	0.019000	0.09904	1.078000	0.30754	2.433000	0.82419	0.555000	0.69702	ACG		0.647	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308		A	8794161	G	A	8794161	3	1	790	1	0	0	0	0	1	0	0	0	11924	1145	40	1	2143	1	PIK3R5	17	8794161	Missense_Mutation	SNP	G	TCGA-SX-A7SN-01A-11D-A34Z-10		8794161	72401049	89	47024											
SMCR8	140775	hgsc.bcm.edu	37	17	18220521	18220521	+	Frame_Shift_Del	DEL	A	A	-			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr17:18220521delA	ENST00000406438.3	+	1	1898	c.1418delA	c.(1417-1419)gaafs	p.E473fs	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	473						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						GAAAGTATTGAAGTTTTGGGC	0.502																																																0													68	69	69					17																	18220521		2203	4300	6503	SO:0001589	frameshift_variant	140775			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.1418delA	chr17.hg19:g.18220521delA	ENSP00000385025:p.Glu473fs		A5PKZ5|Q3ZCN0|Q6PJL3	Frame_Shift_Del	DEL	ENST00000406438.3	hg19	CCDS11195.2																																																																																				0.502	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132065.2	NM_144775		-	18220521	A	-	18220521	7	5	790	1	0	1	0	1	0	0	0	0	14798	246	9	0	1420	0	SMCR8	17	18220521	Frame_Shift_Del	DEL	A	TCGA-SX-A7SN-01A-11D-A34Z-10	9426360	18220521	62974689	90	47025			1	128		2	2	13	N	C_A	3.915066e-05
SMCR8	140775	hgsc.bcm.edu	37	17	18220533	18220533	+	Missense_Mutation	SNP	C	C	T	rs571482412	byFrequency	TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr17:18220533C>T	ENST00000406438.3	+	1	1910	c.1430C>T	c.(1429-1431)aCg>aTg	p.T477M	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	477						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						GTTTTGGGCACGGAGAAATCC	0.512													C|||	2	0.000399361	0.0015	0.0	5008	,	,		19889	0.0		0.0	False		,,,				2504	0.0															0													63	65	64					17																	18220533		2203	4300	6503	SO:0001583	missense	140775			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.1430C>T	chr17.hg19:g.18220533C>T	ENSP00000385025:p.Thr477Met		A5PKZ5|Q3ZCN0|Q6PJL3	Missense_Mutation	SNP	ENST00000406438.3	hg19	CCDS11195.2	.	.	.	.	.	.	.	.	.	.	C	13.09	2.131979	0.37630	.	.	ENSG00000176994	ENST00000406438	T	0.34859	1.34	5.73	4.76	0.60689	.	0.269349	0.37012	N	0.002284	T	0.49201	0.1543	L	0.34521	1.04	0.39220	D	0.963485	D	0.89917	1.0	D	0.78314	0.991	T	0.55088	-0.8195	10	0.62326	D	0.03	-23.1601	15.0297	0.71696	0.0:0.9319:0.0:0.0681	.	477	Q8TEV9	SMCR8_HUMAN	M	477	ENSP00000385025:T477M	ENSP00000385025:T477M	T	+	2	0	SMCR8	18161258	0.990000	0.36364	0.882000	0.34594	0.535000	0.34838	2.896000	0.48656	1.437000	0.47472	-0.122000	0.15005	ACG		0.512	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132065.2	NM_144775		T	18220533	C	T	18220533	3	4	790	1	0	0	0	0	1	0	0	0	14798	536	19	1	1432	1	SMCR8	17	18220533	Missense_Mutation	SNP	C	TCGA-SX-A7SN-01A-11D-A34Z-10	12	18220533	62974677	91	47026			1	128		2	2	13	N	C_A	3.915066e-05
KSR1	8844	hgsc.bcm.edu	37	17	25919618	25919618	+	Missense_Mutation	SNP	A	A	G			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr17:25919618A>G	ENST00000319524.6	+	9	1265	c.1265A>G	c.(1264-1266)cAt>cGt	p.H422R	KSR1_ENST00000509603.2_Missense_Mutation_p.H422R|KSR1_ENST00000398988.3_Missense_Mutation_p.H285R|KSR1_ENST00000268763.6_Missense_Mutation_p.H285R|KSR1_ENST00000581975.1_3'UTR			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	422					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)		GCCGAACCCCATTTTGGAACC	0.547																																					Esophageal Squamous(88;1120 1336 6324 10502 16832)											0													71	70	71					17																	25919618		1910	4120	6030	SO:0001583	missense	8844			U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068			6465	protein-coding gene	gene with protein product		601132	"kinase suppressor of ras"	KSR		8521512	Standard	XM_006722151		Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000319524.6:c.1265A>G	chr17.hg19:g.25919618A>G	ENSP00000323178:p.His422Arg		F8WEA9|H7BYU0|Q13476	Missense_Mutation	SNP	ENST00000319524.6	hg19		.	.	.	.	.	.	.	.	.	.	A	16.91	3.251807	0.59212	.	.	ENSG00000141068	ENST00000319524;ENST00000509603;ENST00000268763;ENST00000398982	T;T;T	0.80738	-1.41;-1.34;-1.41	5.14	5.14	0.70334	.	0.463486	0.26136	N	0.026130	T	0.75568	0.3867	L	0.58810	1.83	0.32224	N	0.574889	P;P	0.43826	0.544;0.818	B;B	0.39840	0.162;0.311	T	0.77308	-0.2636	10	0.14252	T	0.57	.	14.1401	0.65313	1.0:0.0:0.0:0.0	.	420;422	Q8IVT5;F5H0K8	KSR1_HUMAN;.	R	422;422;285;285	ENSP00000323178:H422R;ENSP00000438795:H422R;ENSP00000268763:H285R	ENSP00000268763:H285R	H	+	2	0	KSR1	22943745	1.000000	0.71417	0.997000	0.53966	0.966000	0.64601	6.933000	0.75874	1.951000	0.56629	0.482000	0.46254	CAT		0.547	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_014238		G	25919618	A	G	25919618	3	3	790	1	0	0	0	0	1	0	0	0	8583	217	8	3	876	3	KSR1	17	25919618	Missense_Mutation	SNP	A	TCGA-SX-A7SN-01A-11D-A34Z-10	7699085	25919618	55275592	92	47027											
NR1D1	9572	hgsc.bcm.edu	37	17	38249443	38249443	+	Silent	SNP	A	A	G			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr17:38249443A>G	ENST00000246672.3	-	8	2368	c.1738T>C	c.(1738-1740)Ttg>Ctg	p.L580L	THRA_ENST00000584985.1_Silent_p.Q388Q|THRA_ENST00000394121.4_Silent_p.Q427Q|THRA_ENST00000264637.4_Silent_p.Q427Q	NM_021724.3	NP_068370.1	P20393	NR1D1_HUMAN	nuclear receptor subfamily 1, group D, member 1	580	Ligand-binding.				cell differentiation (GO:0030154)|cellular response to lipopolysaccharide (GO:0071222)|circadian regulation of gene expression (GO:0032922)|circadian temperature homeostasis (GO:0060086)|gene expression (GO:0010467)|glycogen biosynthetic process (GO:0005978)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of receptor biosynthetic process (GO:0010871)|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)|positive regulation of bile acid biosynthetic process (GO:0070859)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasomal protein catabolic process (GO:0010498)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|regulation of fat cell differentiation (GO:0045598)|regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter (GO:0035947)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of lipid metabolic process (GO:0019216)|regulation of type B pancreatic cell proliferation (GO:0061469)|response to leptin (GO:0044321)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|heme binding (GO:0020037)|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 negative regulation of transcription (GO:0001078)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|transcription corepressor binding (GO:0001222)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(5)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	11	Colorectal(19;0.000442)					GAAGTCTCCAAGGGCCGGTTC	0.637																																																0													44	46	45					17																	38249443		2203	4300	6503	SO:0001819	synonymous_variant	9572			X72631	CCDS11361.1	17q11.2	2013-01-16			ENSG00000126368	ENSG00000126368		"Nuclear hormone receptors"	7962	protein-coding gene	gene with protein product		602408		THRAL		1971514	Standard	NM_021724		Approved	ear-1, hRev, Rev-ErbAalpha, THRA1	uc002htz.3	P20393	OTTHUMG00000133327	ENST00000246672.3:c.1738T>C	chr17.hg19:g.38249443A>G			Q0P5Z4|Q15304	Silent	SNP	ENST00000246672.3	hg19	CCDS11361.1																																																																																				0.637	NR1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257135.1			G	38249443	A	G	38249443	2	3	790	1	0	0	0	0	0	0	0	1	10617	69	3	3		3	NR1D1	17	38249443	Silent	SNP	A	TCGA-SX-A7SN-01A-11D-A34Z-10	12329825	38249443	42945767	93	47028											
AZI1	22994	hgsc.bcm.edu	37	17	79166382	79166382	+	Missense_Mutation	SNP	T	T	C			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr17:79166382T>C	ENST00000269392.4	-	20	2697	c.2450A>G	c.(2449-2451)gAg>gGg	p.E817G	AZI1_ENST00000374782.3_Missense_Mutation_p.E778G|AZI1_ENST00000450824.2_Missense_Mutation_p.E814G|AZI1_ENST00000575907.1_Missense_Mutation_p.E781G	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN		817					cell differentiation (GO:0030154)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|regulation of centrosome duplication (GO:0010824)|spermatogenesis (GO:0007283)	BBSome (GO:0034464)|cell projection (GO:0042995)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CTCTTCCAGCTCCGCCCGCTG	0.682																																																0													22	21	21					17																	79166382		2187	4289	6476	SO:0001583	missense	22994																														ENST00000269392.4:c.2450A>G	chr17.hg19:g.79166382T>C	ENSP00000269392:p.Glu817Gly		A6NHI8|B2RN11|Q96F50	Missense_Mutation	SNP	ENST00000269392.4	hg19		.	.	.	.	.	.	.	.	.	.	T	18.92	3.725194	0.68959	.	.	ENSG00000141577	ENST00000450824;ENST00000374782;ENST00000269392	T;T;T	0.18174	2.23;2.24;2.23	3.28	3.28	0.37604	.	0.064317	0.64402	D	0.000012	T	0.37544	0.1007	M	0.66939	2.045	0.53688	D	0.999972	D;D;D;D	0.89917	1.0;1.0;0.998;0.998	D;D;D;D	0.87578	0.998;0.998;0.948;0.948	T	0.22417	-1.0217	10	0.72032	D	0.01	-15.5695	11.7935	0.52084	0.0:0.0:0.0:1.0	.	814;817;778;814	B2RN10;Q9UPN4;Q9UPN4-3;Q9UPN4-2	.;AZI1_HUMAN;.;.	G	814;778;817	ENSP00000393583:E814G;ENSP00000363914:E778G;ENSP00000269392:E817G	ENSP00000269392:E817G	E	-	2	0	AZI1	76780977	1.000000	0.71417	0.904000	0.35570	0.561000	0.35649	5.333000	0.65917	1.368000	0.46115	0.260000	0.18958	GAG		0.682	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000256070.1			C	79166382	T	C	79166382	3	2	790	1	0	0	0	0	1	0	0	0	1240	1551	54	3	829	3	AZI1	17	79166382	Missense_Mutation	SNP	T	TCGA-SX-A7SN-01A-11D-A34Z-10	40916939	79166382	2028828	94	47029											
TGIF1	7050	hgsc.bcm.edu	37	18	3457644	3457644	+	Silent	SNP	T	T	C			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr18:3457644T>C	ENST00000330513.5	+	3	1215	c.912T>C	c.(910-912)caT>caC	p.H304H	TGIF1_ENST00000551541.1_Silent_p.H155H|TGIF1_ENST00000401449.1_Silent_p.H155H|TGIF1_ENST00000472042.1_Silent_p.H155H|TGIF1_ENST00000407501.2_Silent_p.H175H|TGIF1_ENST00000405385.3_Silent_p.H155H|TGIF1_ENST00000343820.5_Silent_p.H175H|TGIF1_ENST00000345133.5_Silent_p.H155H|TGIF1_ENST00000548489.2_Silent_p.H189H|TGIF1_ENST00000400167.2_Silent_p.H155H	NM_170695.2	NP_733796.2	Q15583	TGIF1_HUMAN	TGFB-induced factor homeobox 1	304					determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of cell proliferation (GO:0008285)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nodal signaling pathway (GO:0038092)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neuron differentiation (GO:0045666)|regulation of gastrulation (GO:0010470)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)				TGATCTGCCATACCACTGTGA	0.522																																																0													79	69	72					18																	3457644		2203	4300	6503	SO:0001819	synonymous_variant	7050			X89750	CCDS11832.1, CCDS11833.1, CCDS11834.1, CCDS11835.1	18p11.31	2011-06-20	2007-01-30	2007-01-30	ENSG00000177426	ENSG00000177426		"Homeoboxes / TALE class"	11776	protein-coding gene	gene with protein product		602630	"TGFB-induced factor (TALE family homeobox)"	HPE4, TGIF		8537382, 10835638	Standard	NM_173211		Approved		uc002klz.3	Q15583	OTTHUMG00000131511	ENST00000330513.5:c.912T>C	chr18.hg19:g.3457644T>C			A6NE42|A6NLU7|F8VZB6|Q6ICR0|Q8N5X9|Q9NRS0	Silent	SNP	ENST00000330513.5	hg19	CCDS11834.1																																																																																				0.522	TGIF1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254368.4	NM_170695		C	3457644	T	C	3457644	2	2	790	1	0	0	0	0	0	0	0	1	15830	1403	49	3		3	TGIF1	18	3457644	Silent	SNP	T	TCGA-SX-A7SN-01A-11D-A34Z-10		3457644	74619604	95	47030											
GADD45B	4616	hgsc.bcm.edu	37	19	2477521	2477521	+	Missense_Mutation	SNP	G	G	C			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr19:2477521G>C	ENST00000215631.4	+	4	637	c.405G>C	c.(403-405)ttG>ttC	p.L135F		NM_015675.3	NP_056490.2	O75293	GA45B_HUMAN	growth arrest and DNA-damage-inducible, beta	135					activation of MAPKK activity (GO:0000186)|activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of cell cycle (GO:0051726)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|lung(1)|ovary(1)	4		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)		GCCACGGCTTGGTGGAGGTGG	0.607																																																0													45	43	44					19																	2477521		2203	4300	6503	SO:0001583	missense	4616			AF090950	CCDS32868.1	19p13.3	2012-10-02			ENSG00000099860	ENSG00000099860			4096	protein-coding gene	gene with protein product	"myeloid differentiation primary response", "growth arrest and DNA-damage-inducible beta"	604948		MYD118		1899477, 9827804	Standard	NM_015675		Approved	GADD45BETA, DKFZP566B133	uc002lwb.2	O75293	OTTHUMG00000180434	ENST00000215631.4:c.405G>C	chr19.hg19:g.2477521G>C	ENSP00000215631:p.Leu135Phe		A8KAM2|O75960|Q17R46	Missense_Mutation	SNP	ENST00000215631.4	hg19	CCDS32868.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.697218	0.88830	.	.	ENSG00000099860	ENST00000215631	T	0.55413	0.52	4.66	4.66	0.58398	.	0.076693	0.53938	D	0.000053	T	0.71484	0.3345	M	0.84082	2.675	0.80722	D	1	D	0.71674	0.998	P	0.62089	0.898	T	0.75852	-0.3171	10	0.51188	T	0.08	.	15.0579	0.71930	0.0:0.0:1.0:0.0	.	135	O75293	GA45B_HUMAN	F	135	ENSP00000215631:L135F	ENSP00000215631:L135F	L	+	3	2	GADD45B	2428521	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.014000	0.57145	2.126000	0.65437	0.542000	0.68232	TTG		0.607	GADD45B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451337.1	NM_015675		C	2477521	G	C	2477521	3	2	790	1	0	0	0	0	1	0	0	0	6184	1339	47	4	419	4	GADD45B	19	2477521	Missense_Mutation	SNP	G	TCGA-SX-A7SN-01A-11D-A34Z-10		2477521	56651462	96	47031											
ZNF283	284349	hgsc.bcm.edu	37	19	44341266	44341266	+	Missense_Mutation	SNP	A	A	T			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr19:44341266A>T	ENST00000324461.7	+	6	569	c.272A>T	c.(271-273)gAc>gTc	p.D91V	ZNF283_ENST00000588797.1_Intron|ZNF283_ENST00000586976.1_3'UTR|ZNF283_ENST00000590950.1_Missense_Mutation_p.D66V|ZNF283_ENST00000310738.8_Missense_Mutation_p.D55V|ZNF283_ENST00000593164.1_Missense_Mutation_p.D66V|ZNF283_ENST00000593268.1_Missense_Mutation_p.D91V	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	91	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				GAATGCCTGGACCCTGCTCAG	0.453																																																0													166	180	175					19																	44341266		2203	4300	6503	SO:0001583	missense	284349			AK098175	CCDS46097.1, CCDS74387.1	19q13.31	2013-01-08			ENSG00000167637	ENSG00000167637		"Zinc fingers, C2H2-type", "-"	13077	protein-coding gene	gene with protein product						12743021	Standard	NM_181845		Approved		uc002oxr.4	Q8N7M2		ENST00000324461.7:c.272A>T	chr19.hg19:g.44341266A>T	ENSP00000327314:p.Asp91Val		B4DGZ5|B7WP04|Q6RFR9|Q86WM6	Missense_Mutation	SNP	ENST00000324461.7	hg19	CCDS46097.1	.	.	.	.	.	.	.	.	.	.	A	16.64	3.178962	0.57692	.	.	ENSG00000167637	ENST00000324461;ENST00000310738	T;T	0.02837	4.14;4.14	4.08	1.91	0.25777	Krueppel-associated box (4);	.	.	.	.	T	0.14356	0.0347	H	0.95504	3.68	0.34818	D	0.738409	D	0.56521	0.976	P	0.58172	0.834	T	0.04708	-1.0932	9	0.87932	D	0	.	4.0098	0.09618	0.6729:0.2131:0.114:0.0	.	91	Q8N7M2	ZN283_HUMAN	V	91;55	ENSP00000327314:D91V;ENSP00000312519:D55V	ENSP00000312519:D55V	D	+	2	0	ZNF283	49033106	0.087000	0.21565	0.991000	0.47740	0.997000	0.91878	0.216000	0.17585	0.142000	0.18901	0.477000	0.44152	GAC		0.453	ZNF283-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459909.1	NM_181845		T	44341266	A	T	44341266	3	4	790	1	0	0	0	0	1	0	0	0	17825	275	10	5	282	5	ZNF283	19	44341266	Missense_Mutation	SNP	A	TCGA-SX-A7SN-01A-11D-A34Z-10	41863745	44341266	14787717	97	47032											
SYMPK	8189	hgsc.bcm.edu	37	19	46355636	46355636	+	Missense_Mutation	SNP	A	A	G			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr19:46355636A>G	ENST00000245934.7	-	5	477	c.233T>C	c.(232-234)aTc>aCc	p.I78T		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	78	Interaction with HSF1.				cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				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)		TTGGAATGCGATGATCTCCTG	0.527																																																0													174	172	173					19																	46355636		2048	4195	6243	SO:0001583	missense	8189			U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.233T>C	chr19.hg19:g.46355636A>G	ENSP00000245934:p.Ile78Thr		O00521|O00689|O00733|Q59GT5|Q8N2U5	Missense_Mutation	SNP	ENST00000245934.7	hg19	CCDS12676.2	.	.	.	.	.	.	.	.	.	.	A	17.00	3.276339	0.59649	.	.	ENSG00000125755	ENST00000245934;ENST00000340643	T	0.34072	1.38	4.81	4.81	0.61882	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.30008	0.0751	L	0.38838	1.175	0.80722	D	1	P;P	0.36874	0.572;0.519	B;B	0.36030	0.216;0.177	T	0.12915	-1.0529	10	0.54805	T	0.06	.	12.6398	0.56702	1.0:0.0:0.0:0.0	.	93;78	Q4LE61;Q92797	.;SYMPK_HUMAN	T	78;82	ENSP00000245934:I78T	ENSP00000245934:I78T	I	-	2	0	SYMPK	51047476	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.581000	0.90788	1.929000	0.55896	0.459000	0.35465	ATC		0.527	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819		G	46355636	A	G	46355636	3	3	790	1	0	0	0	0	1	0	0	0	15444	333	12	3	3683	3	SYMPK	19	46355636	Missense_Mutation	SNP	A	TCGA-SX-A7SN-01A-11D-A34Z-10	2014370	46355636	12773347	98	47033											
ZNF649	65251	hgsc.bcm.edu	37	19	52394350	52394350	+	Nonsense_Mutation	SNP	C	C	A			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr19:52394350C>A	ENST00000354957.3	-	5	1323	c.1039G>T	c.(1039-1041)Gga>Tga	p.G347*	CTC-429C10.2_ENST00000600329.1_RNA|ZNF649_ENST00000600738.1_Nonsense_Mutation_p.G319*	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	347					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		TCAATGCATCCATAAGGTTTC	0.453																																																0													146	116	126					19																	52394350		2203	4300	6503	SO:0001587	stop_gained	65251			BC005368	CCDS12843.1	19q13.41	2013-01-08				ENSG00000198093		"Zinc fingers, C2H2-type", "-"	25741	protein-coding gene	gene with protein product		611903				15950191	Standard	NM_023074		Approved	FLJ12644	uc002pxy.3	Q9BS31		ENST00000354957.3:c.1039G>T	chr19.hg19:g.52394350C>A	ENSP00000347043:p.Gly347*		A8MYJ5|B2RDC4|Q9H9N2	Nonsense_Mutation	SNP	ENST00000354957.3	hg19	CCDS12843.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.380873	0.82792	.	.	ENSG00000198093	ENST00000354957	.	.	.	2.52	1.47	0.22746	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	1.3017	0.02080	0.2192:0.4244:0.2154:0.141	.	.	.	.	X	347	.	ENSP00000347043:G347X	G	-	1	0	ZNF649	57086162	0.000000	0.05858	0.219000	0.23793	0.013000	0.08279	-2.196000	0.01241	0.273000	0.22049	0.404000	0.27445	GGA		0.453	ZNF649-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461097.1	NM_023074		A	52394350	C	A	52394350	4	1	790	1	0	0	0	0	0	1	0	0	18069	603	21	4	482	4	ZNF649	19	52394350	Nonsense_Mutation	SNP	C	TCGA-SX-A7SN-01A-11D-A34Z-10	6038714	52394350	6734633	99	47034											
EPS8L1	54869	hgsc.bcm.edu	37	19	55593489	55593489	+	Frame_Shift_Del	DEL	C	C	-	rs148596546		TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr19:55593489delC	ENST00000201647.6	+	10	987	c.931delC	c.(931-933)cccfs	p.P311fs	EPS8L1_ENST00000592824.1_3'UTR|EPS8L1_ENST00000540810.1_Frame_Shift_Del_p.P247fs|EPS8L1_ENST00000588359.1_Intron|EPS8L1_ENST00000245618.5_Frame_Shift_Del_p.P184fs|EPS8L1_ENST00000586329.1_Frame_Shift_Del_p.P293fs	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	311					positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|T cell receptor binding (GO:0042608)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GGCCAAGCCGCCCTCGGAGGC	0.721																																					Ovarian(149;255 1863 3636 27051 29647)											0													12	13	13					19																	55593489		2185	4270	6455	SO:0001589	frameshift_variant	54869			AK057052	CCDS12914.1, CCDS12915.1	19q13.42	2008-02-05				ENSG00000131037			21295	protein-coding gene	gene with protein product		614987				12620401	Standard	NM_133180		Approved	FLJ20258, DRC3, MGC23164, MGC4642	uc002qis.4	Q8TE68		ENST00000201647.6:c.931delC	chr19.hg19:g.55593489delC	ENSP00000201647:p.Pro311fs		Q71RE2|Q8NC10|Q96BB7|Q9BSQ2|Q9GZQ2|Q9NXH0	Frame_Shift_Del	DEL	ENST00000201647.6	hg19	CCDS12914.1																																																																																				0.721	EPS8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451713.1	NM_017729		-	55593489	C	-	55593489	7	5	790	1	0	1	0	1	0	0	0	0	5197	739	26	0	1017	0	EPS8L1	19	55593489	Frame_Shift_Del	DEL	C	TCGA-SX-A7SN-01A-11D-A34Z-10	3199139	55593489	3535494	100	47035											
CTCFL	140690	hgsc.bcm.edu	37	20	56098332	56098332	+	Silent	SNP	G	G	A			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chr20:56098332G>A	ENST00000608263.1	-	2	1207	c.546C>T	c.(544-546)ctC>ctT	p.L182L	CTCFL_ENST00000371196.2_Silent_p.L182L|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000423479.3_Silent_p.L182L|CTCFL_ENST00000608158.1_Silent_p.L182L|CTCFL_ENST00000608425.1_Silent_p.L182L|CTCFL_ENST00000608858.1_Intron|CTCFL_ENST00000609232.1_Silent_p.L182L|CTCFL_ENST00000539382.1_5'UTR|CTCFL_ENST00000433949.3_5'UTR|CTCFL_ENST00000481655.2_Silent_p.L182L|CTCFL_ENST00000429804.3_Silent_p.L182L|CTCFL_ENST00000608440.1_Silent_p.L182L|CTCFL_ENST00000608903.1_Intron|CTCFL_ENST00000422869.2_Silent_p.L182L|CTCFL_ENST00000243914.3_Silent_p.L182L|CTCFL_ENST00000432255.2_Silent_p.L182L	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	182					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)			GCTCTTCCTCGAGCTAATAAA	0.353																																																0													85	83	84					20																	56098332		2202	4300	6502	SO:0001819	synonymous_variant	140690				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.546C>T	chr20.hg19:g.56098332G>A			A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Silent	SNP	ENST00000608263.1	hg19	CCDS13459.1																																																																																				0.353	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618		A	56098332	G	A	56098332	2	1	790	1	0	0	0	0	0	0	0	1	4003	1045	37	1		1	CTCFL	20	56098332	Silent	SNP	G	TCGA-SX-A7SN-01A-11D-A34Z-10		56098332	6927188	101	47036											
THOC2	57187	hgsc.bcm.edu	37	X	122766884	122766884	+	Missense_Mutation	SNP	T	T	C			TCGA-SX-A7SN-01A-11D-A34Z-10	TCGA-SX-A7SN-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d71c98f8-db62-494f-8677-8997e476ee98	7b35d4fc-dac8-427e-b9c4-1acb0a501501	g.chrX:122766884T>C	ENST00000245838.8	-	21	2175	c.2144A>G	c.(2143-2145)tAt>tGt	p.Y715C	THOC2_ENST00000355725.4_Missense_Mutation_p.Y715C|THOC2_ENST00000491737.1_Missense_Mutation_p.Y600C	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	715					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						CTGACCAAAATAACCACCCTG	0.388																																																0													120	97	104					X																	122766884		1842	4081	5923	SO:0001583	missense	57187			AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"THO complex subunits"	19073	protein-coding gene	gene with protein product		300395	"chromosome X open reading frame 3"	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.2144A>G	chrX.hg19:g.122766884T>C	ENSP00000245838:p.Tyr715Cys		A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	ENST00000245838.8	hg19	CCDS43988.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.074453	0.76415	.	.	ENSG00000125676	ENST00000245838;ENST00000355725;ENST00000491737;ENST00000408933	.	.	.	5.73	5.73	0.89815	.	0.000000	0.64402	D	0.000010	T	0.78046	0.4222	M	0.80982	2.52	0.80722	D	1	D;D	0.71674	0.998;0.996	D;D	0.63033	0.91;0.91	T	0.79647	-0.1716	9	0.45353	T	0.12	-12.6621	15.0184	0.71605	0.0:0.0:0.0:1.0	.	640;715	B4DKZ6;Q8NI27	.;THOC2_HUMAN	C	715;715;600;640	.	ENSP00000245838:Y715C	Y	-	2	0	THOC2	122594565	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.024000	0.88770	1.929000	0.55896	0.437000	0.28790	TAT		0.388	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3			C	122766884	T	C	122766884	3	2	790	1	0	0	0	0	1	0	0	0	15870	1406	49	3	2709	3	THOC2	23	122766884	Missense_Mutation	SNP	T	TCGA-SX-A7SN-01A-11D-A34Z-10		122766884	32503676	102	47037											
LOC440563	0	hgsc.bcm.edu	37	1	13183800	13183800	+	IGR	SNP	T	T	A			TCGA-SX-A7SO-01A-11D-A34Z-10	TCGA-SX-A7SO-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa1c7a5a-c790-4454-a6b9-3e6510dd803a	f0bb345a-2e8b-4af6-8320-fc9be302a5ff	g.chr1:13183800T>A								RP13-221M14.3 (19332 upstream) : PRAMEF26 (32555 downstream)																							ACAACAAGAGTGTTGAGATTC	0.443																																																0													62	46	51					1																	13183800		691	1591	2282	SO:0001628	intergenic_variant	0																															chr1.hg19:g.13183800T>A				Missense_Mutation	SNP		hg19																																																																																				0	0.443									A	13183800	T	A	13183800	1	1	791	0	1	0	0	0	0	0	0	0	8881	1696	59	5		5	LOC440563	1	13183800	IGR	SNP	T	TCGA-SX-A7SO-01A-11D-A34Z-10		13183800	236066821	1	47038											
EIF4G3	8672	hgsc.bcm.edu	37	1	21155712	21155712	+	Missense_Mutation	SNP	A	A	C			TCGA-SX-A7SO-01A-11D-A34Z-10	TCGA-SX-A7SO-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa1c7a5a-c790-4454-a6b9-3e6510dd803a	f0bb345a-2e8b-4af6-8320-fc9be302a5ff	g.chr1:21155712A>C	ENST00000264211.8	-	25	4141	c.3947T>G	c.(3946-3948)aTt>aGt	p.I1316S	EIF4G3_ENST00000536266.1_Missense_Mutation_p.I920S|EIF4G3_ENST00000537738.1_Missense_Mutation_p.I806S|EIF4G3_ENST00000602326.1_Missense_Mutation_p.I1322S|EIF4G3_ENST00000374937.3_Missense_Mutation_p.I1322S|EIF4G3_ENST00000374935.3_Missense_Mutation_p.I1036S|EIF4G3_ENST00000400422.1_Missense_Mutation_p.I1316S	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1316	MI. {ECO:0000255|PROSITE- ProRule:PRU00698}.				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)		GTACAACCAAATATGGGGAAT	0.373																																																0													90	93	92					1																	21155712		2203	4300	6503	SO:0001583	missense	8672			AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.3947T>G	chr1.hg19:g.21155712A>C	ENSP00000264211:p.Ile1316Ser		B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	ENST00000264211.8	hg19	CCDS214.1	.	.	.	.	.	.	.	.	.	.	A	27.2	4.813791	0.90790	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374935;ENST00000537738;ENST00000374937;ENST00000536266;ENST00000435383	T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91	5.78	5.78	0.91487	Initiation factor eIF-4 gamma, MA3 (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.66674	0.2813	M	0.79475	2.455	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;0.999	D;D;D;D;D	0.91635	0.999;0.988;0.986;0.998;0.98	T	0.71069	-0.4699	10	0.87932	D	0	-13.8129	16.1095	0.81250	1.0:0.0:0.0:0.0	.	1511;1036;920;1322;1316	Q59GJ0;Q504Z1;F5H564;B9EGQ7;O43432	.;.;.;.;IF4G3_HUMAN	S	1316;1512;1316;1036;806;1322;920;82	ENSP00000264211:I1316S;ENSP00000383274:I1316S;ENSP00000364071:I1036S;ENSP00000442010:I806S;ENSP00000364073:I1322S;ENSP00000444693:I920S	ENSP00000264211:I1316S	I	-	2	0	EIF4G3	21028299	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.887000	0.92456	2.210000	0.71456	0.482000	0.46254	ATT		0.373	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760		C	21155712	A	C	21155712	3	2	791	1	0	0	0	0	1	0	0	0	5040	101	4	5	838	5	EIF4G3	1	21155712	Missense_Mutation	SNP	A	TCGA-SX-A7SO-01A-11D-A34Z-10	7971912	21155712	228094909	2	47039											
C1orf173	127254	hgsc.bcm.edu	37	1	75114960	75114960	+	Silent	SNP	C	C	A			TCGA-SX-A7SO-01A-11D-A34Z-10	TCGA-SX-A7SO-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa1c7a5a-c790-4454-a6b9-3e6510dd803a	f0bb345a-2e8b-4af6-8320-fc9be302a5ff	g.chr1:75114960C>A	ENST00000326665.5	-	2	281	c.63G>T	c.(61-63)ctG>ctT	p.L21L		NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		21										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						AATACCCAGCCAGGTGTTTAT	0.353																																																0													110	109	109					1																	75114960		2203	4300	6503	SO:0001819	synonymous_variant	127254																														ENST00000326665.5:c.63G>T	chr1.hg19:g.75114960C>A			Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Silent	SNP	ENST00000326665.5	hg19	CCDS30755.1																																																																																				0.353	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			A	75114960	C	A	75114960	2	1	791	1	0	0	0	0	0	0	0	1	2016	581	21	4		4	C1orf173	1	75114960	Silent	SNP	C	TCGA-SX-A7SO-01A-11D-A34Z-10	53959248	75114960	174135661	3	47040											
BCAR3	8412	hgsc.bcm.edu	37	1	94049639	94049639	+	Silent	SNP	A	A	G			TCGA-SX-A7SO-01A-11D-A34Z-10	TCGA-SX-A7SO-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa1c7a5a-c790-4454-a6b9-3e6510dd803a	f0bb345a-2e8b-4af6-8320-fc9be302a5ff	g.chr1:94049639A>G	ENST00000370244.1	-	8	1257	c.969T>C	c.(967-969)gaT>gaC	p.D323D	BCAR3_ENST00000260502.6_Silent_p.D323D|BCAR3_ENST00000539242.1_5'UTR|BCAR3_ENST00000370247.3_Silent_p.D232D|BCAR3_ENST00000466632.1_5'UTR|BCAR3_ENST00000370243.1_Silent_p.D323D	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	323					lens morphogenesis in camera-type eye (GO:0002089)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		CCTGCATGTGATCCAGGCAGG	0.463																																																0													104	100	102					1																	94049639		2203	4300	6503	SO:0001819	synonymous_variant	8412			U92715	CCDS745.1, CCDS58010.1	1p22.1	2013-02-14			ENSG00000137936	ENSG00000137936		"SH2 domain containing"	973	protein-coding gene	gene with protein product		604704				9582273	Standard	NM_001261408		Approved	NSP2, SH2D3B	uc001dpz.4	O75815	OTTHUMG00000010301	ENST00000370244.1:c.969T>C	chr1.hg19:g.94049639A>G			D3DT43|Q5TEW3|Q6UW40|Q9BR50	Silent	SNP	ENST00000370244.1	hg19	CCDS745.1																																																																																				0.463	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028420.1			G	94049639	A	G	94049639	2	3	791	1	0	0	0	0	0	0	0	1	1349	330	12	3		3	BCAR3	1	94049639	Silent	SNP	A	TCGA-SX-A7SO-01A-11D-A34Z-10	18934679	94049639	155200982	4	47041											
IGSF3	3321	hgsc.bcm.edu	37	1	117156796	117156796	+	Splice_Site	SNP	C	C	T			TCGA-SX-A7SO-01A-11D-A34Z-10	TCGA-SX-A7SO-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa1c7a5a-c790-4454-a6b9-3e6510dd803a	f0bb345a-2e8b-4af6-8320-fc9be302a5ff	g.chr1:117156796C>T	ENST00000369486.3	-	4	1188	c.423G>A	c.(421-423)gtG>gtA	p.V141V	IGSF3_ENST00000369483.1_Splice_Site_p.V141V|IGSF3_ENST00000318837.6_Splice_Site_p.V141V	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	141					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)		AGTCTGGGATCACTGCAACAC	0.582																																																0													28	28	28					1																	117156796		2201	4293	6494	SO:0001630	splice_region_variant	3321			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.422-1G>A	chr1.hg19:g.117156796C>T			A6NJZ6|A6NMC7	Silent	SNP	ENST00000369486.3	hg19	CCDS30813.1																																																																																				0.582	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542	Silent	T	117156796	C	T	117156796	5	4	791	1	0	0	0	0	0	0	1	0	7603	840	29	2	3257	2	IGSF3	1	117156796	Splice_Site	SNP	C	TCGA-SX-A7SO-01A-11D-A34Z-10	23107157	117156796	132093825	5	47042											
LCE4A	199834	hgsc.bcm.edu	37	1	152681689	152681689	+	Silent	SNP	G	G	C	rs200223098	byFrequency	TCGA-SX-A7SO-01A-11D-A34Z-10	TCGA-SX-A7SO-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa1c7a5a-c790-4454-a6b9-3e6510dd803a	f0bb345a-2e8b-4af6-8320-fc9be302a5ff	g.chr1:152681689G>C	ENST00000368777.1	+	2	394	c.138G>C	c.(136-138)ggG>ggC	p.G46G	LCE4A_ENST00000335535.3_Silent_p.G46G			Q5TA78	LCE4A_HUMAN	late cornified envelope 4A	46	Cys-rich.				keratinization (GO:0031424)					endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.116)			CCAGCTCTGGGGGCTGTGGTT	0.577													G|||	245	0.0489217	0.003	0.0821	5008	,	,		16464	0.129		0.0109	False		,,,				2504	0.044															0													81	94	90					1																	152681689		2203	4300	6503	SO:0001819	synonymous_variant	199834			BI670517	CCDS1022.1	1q22	2008-02-05	2004-10-11	2004-10-15	ENSG00000187170	ENSG00000187170		"Late cornified envelopes"	16613	protein-coding gene	gene with protein product		612618	"small proline rich-like (epidermal differentiation complex) 4A"	SPRL4A		11698679	Standard	NM_178356		Approved	LEP8	uc001fak.2	Q5TA78	OTTHUMG00000014394	ENST00000368777.1:c.138G>C	chr1.hg19:g.152681689G>C			Q14D97	Silent	SNP	ENST00000368777.1	hg19	CCDS1022.1																																																																																				0.577	LCE4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040048.1	NM_178356		C	152681689	G	C	152681689	2	2	791	1	0	0	0	0	0	0	0	1	8676	1219	43	4		4	LCE4A	1	152681689	Silent	SNP	G	TCGA-SX-A7SO-01A-11D-A34Z-10	35524893	152681689	96568932	6	47043											
HMCN1	83872	hgsc.bcm.edu	37	1	186026523	186026524	+	Frame_Shift_Ins	INS	-	-	ATTCTTTCAGGTA			TCGA-SX-A7SO-01A-11D-A34Z-10	TCGA-SX-A7SO-10A-01D-A34Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa1c7a5a-c790-4454-a6b9-3e6510dd803a	f0bb345a-2e8b-4af6-8320-fc9be302a5ff	g.chr1:186026523_186026524insATTCTTTCAGGTA	ENST00000271588.4	+	46	7531_7532	c.7302_7303insATTCTTTCAGGTA	c.(7303-7305)attfs	p.-2435fs	HMCN1_ENST00000367492.2_Frame_Shift_Ins_p.-2435fs	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1						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.R2434S(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						ATTCTGTGAGGATTCTTTCAGG	0.391																																																1	Substitution - Missense(1)	lung(1)																																								SO:0001589	frameshift_variant	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	Exception_encountered	chr1.hg19:g.186026523_186026524insATTCTTTCAGGTA	ENSP00000271588:p.Ile2435fs		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Frame_Shift_Ins	INS	ENST00000271588.4	hg19	CCDS30956.1																																																																																				0.391	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		ATTCTTTCAGGTA	186026524	-	ATTCTTTCAGGTA	186026523	7	5	791	1	0	1	1	0	0	0	0	0	7222	1165	41	0	7484	0	HMCN1	1	186026523	Frame_Shift_Ins	INS	-	TCGA-SX-A7SO-01A-11D-A34Z-10	33344834	186026523	63224098	7	47044											
RYR2	6262	hgsc.bcm.edu	37	1	237758908	237758908	+	Missense_Mutation	SNP	G	G	A			TCGA-SX-A7SO-01A-11D-A34Z-10	TCGA-SX-A7SO-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa1c7a5a-c790-4454-a6b9-3e6510dd803a	f0bb345a-2e8b-4af6-8320-fc9be302a5ff	g.chr1:237758908G>A	ENST00000366574.2	+	34	4864	c.4547G>A	c.(4546-4548)gGg>gAg	p.G1516E	RYR2_ENST00000542537.1_Missense_Mutation_p.G1500E|RYR2_ENST00000360064.6_Missense_Mutation_p.G1514E	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1516	4 X approximate repeats.|B30.2/SPRY 3. {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)			GCTGCCAGCGGGCTGCTCACA	0.522																																																0													71	80	77					1																	237758908		2103	4237	6340	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.4547G>A	chr1.hg19:g.237758908G>A	ENSP00000355533:p.Gly1516Glu		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	hg19	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.958439	0.92726	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.72051	-0.62;-0.62;-0.62	5.72	5.72	0.89469	SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.64402	D	0.000004	D	0.85881	0.5800	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86888	0.2046	10	0.87932	D	0	.	19.8805	0.96895	0.0:0.0:1.0:0.0	.	1516	Q92736	RYR2_HUMAN	E	1516;1514;1500	ENSP00000355533:G1516E;ENSP00000353174:G1514E;ENSP00000443798:G1500E	ENSP00000353174:G1514E	G	+	2	0	RYR2	235825531	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.822000	0.99363	2.704000	0.92352	0.655000	0.94253	GGG		0.522	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		A	237758908	G	A	237758908	3	1	791	1	0	0	0	0	1	0	0	0	13775	1232	43	2	4681	2	RYR2	1	237758908	Missense_Mutation	SNP	G	TCGA-SX-A7SO-01A-11D-A34Z-10	51732385	237758908	11491713	8	47045											
DNAH6	1768	hgsc.bcm.edu	37	2	84774641	84774641	+	Missense_Mutation	SNP	G	G	A			TCGA-SX-A7SO-01A-11D-A34Z-10	TCGA-SX-A7SO-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa1c7a5a-c790-4454-a6b9-3e6510dd803a	f0bb345a-2e8b-4af6-8320-fc9be302a5ff	g.chr2:84774641G>A	ENST00000237449.6	+	6	1099	c.1091G>A	c.(1090-1092)cGa>cAa	p.R364Q	DNAH6_ENST00000389394.3_Missense_Mutation_p.R364Q|DNAH6_ENST00000398278.2_Missense_Mutation_p.R364Q			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	364	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						GGAGAATTTCGAAATGAGGCA	0.393																																																0													244	208	219					2																	84774641		692	1591	2283	SO:0001583	missense	1768			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"Axonemal dyneins"	2951	protein-coding gene	gene with protein product		603336	"dynein, axonemal, heavy polypeptide 6", "dynein heavy chain-like 1"	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.1091G>A	chr2.hg19:g.84774641G>A	ENSP00000237449:p.Arg364Gln		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	ENST00000237449.6	hg19	CCDS46348.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.969191	0.92855	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.25414	1.8;1.93;1.8	5.35	5.35	0.76521	.	.	.	.	.	T	0.31638	0.0803	M	0.76002	2.32	0.37615	D	0.921094	P	0.40083	0.702	B	0.34038	0.174	T	0.45454	-0.9260	9	0.62326	D	0.03	.	17.8272	0.88669	0.0:0.0:1.0:0.0	.	364	Q9C0G6	DYH6_HUMAN	Q	364	ENSP00000374045:R364Q;ENSP00000381326:R364Q;ENSP00000237449:R364Q	ENSP00000237449:R364Q	R	+	2	0	DNAH6	84628152	1.000000	0.71417	0.344000	0.25628	0.767000	0.43475	6.769000	0.74985	2.501000	0.84356	0.591000	0.81541	CGA		0.393	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370		A	84774641	G	A	84774641	3	1	791	1	0	0	0	0	1	0	0	0	4607	1058	37	1	1113	1	DNAH6	2	84774641	Missense_Mutation	SNP	G	TCGA-SX-A7SO-01A-11D-A34Z-10		84774641	158424732	9	47046											
ITPR1	3708	hgsc.bcm.edu	37	3	4741539	4741539	+	Missense_Mutation	SNP	T	T	A			TCGA-SX-A7SO-01A-11D-A34Z-10	TCGA-SX-A7SO-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa1c7a5a-c790-4454-a6b9-3e6510dd803a	f0bb345a-2e8b-4af6-8320-fc9be302a5ff	g.chr3:4741539T>A	ENST00000443694.2	+	32	4405	c.4405T>A	c.(4405-4407)Ttg>Atg	p.L1469M	ITPR1_ENST00000423119.2_Missense_Mutation_p.L1475M|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Missense_Mutation_p.L1484M|ITPR1_ENST00000302640.8_Missense_Mutation_p.L1469M|ITPR1_ENST00000357086.4_Missense_Mutation_p.L1475M|ITPR1_ENST00000456211.2_Missense_Mutation_p.L1460M			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1484					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)	AGACTCGATTTTGGAGAAGTA	0.413																																																0													174	161	166					3																	4741539		1946	4134	6080	SO:0001583	missense	3708			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"Ion channels / Inositol triphosphate receptors"	6180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 94"	147265	"spinocerebellar ataxia 15", "spinocerebellar ataxia 16", "spinocerebellar ataxia 29"	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.4405T>A	chr3.hg19:g.4741539T>A	ENSP00000401671:p.Leu1469Met		E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	hg19	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	T	16.55	3.155209	0.57259	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000443694	T;T;T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22;-1.22;-1.22	5.7	-3.64	0.04515	.	0.000000	0.64402	D	0.000001	D	0.87398	0.6167	M	0.85197	2.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	D	0.86486	0.1794	10	0.51188	T	0.08	.	18.2794	0.90092	0.0:0.6888:0.0:0.3112	.	1484;1475	Q14643;G5E9P1	ITPR1_HUMAN;.	M	1484;1469;1484;1475;1475;1460;1469	ENSP00000306253:L1469M;ENSP00000346595:L1484M;ENSP00000405934:L1475M;ENSP00000349597:L1475M;ENSP00000397885:L1460M;ENSP00000401671:L1469M	ENSP00000306253:L1469M	L	+	1	2	ITPR1	4716539	0.002000	0.14202	0.003000	0.11579	0.784000	0.44337	0.017000	0.13399	-0.994000	0.03463	0.477000	0.44152	TTG		0.413	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		A	4741539	T	A	4741539	3	1	791	1	0	0	0	0	1	0	0	0	7922	1838	64	5	4580	5	ITPR1	3	4741539	Missense_Mutation	SNP	T	TCGA-SX-A7SO-01A-11D-A34Z-10		4741539	193280891	10	47047											
C3orf62	375341	hgsc.bcm.edu	37	3	49308828	49308828	+	Nonsense_Mutation	SNP	C	C	A			TCGA-SX-A7SO-01A-11D-A34Z-10	TCGA-SX-A7SO-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa1c7a5a-c790-4454-a6b9-3e6510dd803a	f0bb345a-2e8b-4af6-8320-fc9be302a5ff	g.chr3:49308828C>A	ENST00000343010.3	-	3	1625	c.589G>T	c.(589-591)Gaa>Taa	p.E197*	MIR4271_ENST00000582451.1_RNA|Y_RNA_ENST00000362676.1_RNA	NM_198562.2	NP_940964.1	Q6ZUJ4	CC062_HUMAN	chromosome 3 open reading frame 62	197										breast(1)|kidney(1)|large_intestine(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AATTCGTTTTCAAATTCTATT	0.423																																																0													72	76	75					3																	49308828		2203	4300	6503	SO:0001587	stop_gained	375341			AK125642	CCDS2792.1	3p21.31	2006-02-11			ENSG00000188315	ENSG00000188315			24771	protein-coding gene	gene with protein product						12477932	Standard	NM_198562		Approved	FLJ43654	uc003cwn.2	Q6ZUJ4	OTTHUMG00000156819	ENST00000343010.3:c.589G>T	chr3.hg19:g.49308828C>A	ENSP00000341139:p.Glu197*		Q6P7E9|Q7Z3X6	Nonsense_Mutation	SNP	ENST00000343010.3	hg19	CCDS2792.1	.	.	.	.	.	.	.	.	.	.	C	42	9.581914	0.99211	.	.	ENSG00000188315	ENST00000343010	.	.	.	5.3	5.3	0.74995	.	0.000000	0.50627	D	0.000115	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-23.8339	14.3179	0.66465	0.0:1.0:0.0:0.0	.	.	.	.	X	197	.	ENSP00000341139:E197X	E	-	1	0	C3orf62	49283832	1.000000	0.71417	1.000000	0.80357	0.599000	0.36880	2.613000	0.46351	2.745000	0.94114	0.585000	0.79938	GAA		0.423	C3orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345990.1	NM_198562		A	49308828	C	A	49308828	4	1	791	1	0	0	0	0	0	1	0	0	2240	835	29	4	218	4	C3orf62	3	49308828	Nonsense_Mutation	SNP	C	TCGA-SX-A7SO-01A-11D-A34Z-10	44567289	49308828	148713602	11	47048											
AMIGO3	29925	hgsc.bcm.edu	37	3	49756686	49756686	+	3'UTR	SNP	G	G	A			TCGA-SX-A7SO-01A-11D-A34Z-10	TCGA-SX-A7SO-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa1c7a5a-c790-4454-a6b9-3e6510dd803a	f0bb345a-2e8b-4af6-8320-fc9be302a5ff	g.chr3:49756686G>A	ENST00000480687.1	-	0	3698				RNF123_ENST00000327697.6_Intron|RNF123_ENST00000433785.1_Intron|RNF123_ENST00000497099.1_Intron|AMIGO3_ENST00000535833.1_Silent_p.N71N|AMIGO3_ENST00000320431.7_Silent_p.N71N			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B						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)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|mannose-1-phosphate guanylyltransferase activity (GO:0004475)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCTGGAGCGCGTTGTGGCTCA	0.677											OREG0015572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													41	47	45					3																	49756686		2203	4299	6502	SO:0001624	3_prime_UTR_variant	386724			AF135421	CCDS2802.1, CCDS2803.1	3p21.31	2008-02-05			ENSG00000173540	ENSG00000173540	2.7.7.22		22932	protein-coding gene	gene with protein product		615320					Standard	NM_013334		Approved	KIAA1851	uc003cxl.1	Q9Y5P6	OTTHUMG00000158151	ENST00000480687.1:c.*2499C>T	chr3.hg19:g.49756686G>A		964	A8K6N5|Q9H7U3	Silent	SNP	ENST00000480687.1	hg19	CCDS2803.1																																																																																				0.677	GMPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350291.1	NM_013334		A	49756686	G	A	49756686	1	1	791	0	1	0	0	0	0	0	0	0	577	1136	40	1		1	AMIGO3	3	49756686	3'UTR	SNP	G	TCGA-SX-A7SO-01A-11D-A34Z-10	447858	49756686	148265744	12	47049											
PLA1A	51365	hgsc.bcm.edu	37	3	119347690	119347690	+	Missense_Mutation	SNP	G	G	C			TCGA-SX-A7SO-01A-11D-A34Z-10	TCGA-SX-A7SO-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa1c7a5a-c790-4454-a6b9-3e6510dd803a	f0bb345a-2e8b-4af6-8320-fc9be302a5ff	g.chr3:119347690G>C	ENST00000273371.4	+	10	1336	c.1264G>C	c.(1264-1266)Gcc>Ccc	p.A422P	PLA1A_ENST00000495992.1_Missense_Mutation_p.A406P|PLA1A_ENST00000488919.1_Missense_Mutation_p.A249P|PLA1A_ENST00000494440.1_Missense_Mutation_p.A406P	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	422	Involved in the recognition of diacyl- phospholipids.				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						GTTCTGCACTGCCCTTTTGCC	0.463																																																0													118	116	117					3																	119347690		2203	4300	6503	SO:0001583	missense	51365			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.1264G>C	chr3.hg19:g.119347690G>C	ENSP00000273371:p.Ala422Pro		B2R8V2|B4DXA2|O95991|Q86WX6|Q9UPD2	Missense_Mutation	SNP	ENST00000273371.4	hg19	CCDS2991.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.856610	0.32791	.	.	ENSG00000144837	ENST00000273371;ENST00000488919;ENST00000495992;ENST00000494440	D;D;D;D	0.93763	-2.69;-3.28;-2.68;-2.78	5.39	2.05	0.26809	.	0.525301	0.20420	N	0.092687	D	0.89181	0.6642	L	0.34521	1.04	0.09310	N	1	D;P	0.53885	0.963;0.938	P;B	0.48270	0.572;0.368	T	0.81669	-0.0828	10	0.52906	T	0.07	-11.9479	6.4226	0.21752	0.1844:0.0:0.6528:0.1627	.	406;422	Q53H76-3;Q53H76	.;PLA1A_HUMAN	P	422;249;406;406	ENSP00000273371:A422P;ENSP00000420625:A249P;ENSP00000417326:A406P;ENSP00000418793:A406P	ENSP00000273371:A422P	A	+	1	0	PLA1A	120830380	0.025000	0.19082	0.399000	0.26333	0.198000	0.23893	1.027000	0.30115	0.599000	0.29845	0.561000	0.74099	GCC		0.463	PLA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355252.2			C	119347690	G	C	119347690	3	2	791	1	0	0	0	0	1	0	0	0	11990	1319	46	4	1302	4	PLA1A	3	119347690	Missense_Mutation	SNP	G	TCGA-SX-A7SO-01A-11D-A34Z-10	69591004	119347690	78674740	13	47050											
PARP9	83666	hgsc.bcm.edu	37	3	122274833	122274833	+	Missense_Mutation	SNP	G	G	A			TCGA-SX-A7SO-01A-11D-A34Z-10	TCGA-SX-A7SO-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa1c7a5a-c790-4454-a6b9-3e6510dd803a	f0bb345a-2e8b-4af6-8320-fc9be302a5ff	g.chr3:122274833G>A	ENST00000360356.2	-	4	517	c.290C>T	c.(289-291)tCt>tTt	p.S97F	PARP9_ENST00000492382.1_Intron|PARP9_ENST00000471785.1_Missense_Mutation_p.S62F|PARP9_ENST00000477522.2_Missense_Mutation_p.S62F|PARP9_ENST00000462315.1_Missense_Mutation_p.S62F	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	97					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)		CTGAACTGGAGAGACCAGGGT	0.413																																																0													72	67	69					3																	122274833		2203	4300	6503	SO:0001583	missense	83666			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.290C>T	chr3.hg19:g.122274833G>A	ENSP00000353512:p.Ser97Phe		A8KA94|B2R8S9|E9PFM7|Q8TCP3|Q9BZL8|Q9BZL9	Missense_Mutation	SNP	ENST00000360356.2	hg19	CCDS3014.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.11|10.11	1.261631|1.261631	0.23051|0.23051	.|.	.|.	ENSG00000138496|ENSG00000138496	ENST00000452457|ENST00000360356;ENST00000477522;ENST00000471785;ENST00000462315;ENST00000466126	.|T;T;T;T	.|0.19250	.|3.17;3.02;3.02;2.16	4.54|4.54	0.716|0.716	0.18191|0.18191	.|.	.|0.491451	.|0.17733	.|N	.|0.163823	T|T	0.10723|0.10723	0.0262|0.0262	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	.|P;B;P	.|0.45078	.|0.841;0.062;0.85	.|B;B;B	.|0.43445	.|0.253;0.039;0.42	T|T	0.11275|0.11275	-1.0594|-1.0594	5|10	.|0.10636	.|T	.|0.68	.|.	1.4955|1.4955	0.02465|0.02465	0.1893:0.167:0.4713:0.1724|0.1893:0.167:0.4713:0.1724	.|.	.|62;97;62	.|E9PFM7;Q8IXQ6;Q8IXQ6-2	.|.;PARP9_HUMAN;.	F|F	21|97;62;62;62;75	.|ENSP00000353512:S97F;ENSP00000419506:S62F;ENSP00000419001:S62F;ENSP00000418894:S62F	.|ENSP00000353512:S97F	L|S	-|-	1|2	0|0	PARP9|PARP9	123757523|123757523	0.449000|0.449000	0.25689|0.25689	0.245000|0.245000	0.24217|0.24217	0.362000|0.362000	0.29581|0.29581	-0.156000|-0.156000	0.10100|0.10100	0.119000|0.119000	0.18210|0.18210	0.655000|0.655000	0.94253|0.94253	CTC|TCT		0.413	PARP9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355957.1	NM_031458		A	122274833	G	A	122274833	3	1	791	1	0	0	0	0	1	0	0	0	11468	942	33	2	2359	2	PARP9	3	122274833	Missense_Mutation	SNP	G	TCGA-SX-A7SO-01A-11D-A34Z-10	2927143	122274833	75747597	14	47051											
STX18	53407	hgsc.bcm.edu	37	4	4436549	4436549	+	Missense_Mutation	SNP	G	G	C			TCGA-SX-A7SO-01A-11D-A34Z-10	TCGA-SX-A7SO-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa1c7a5a-c790-4454-a6b9-3e6510dd803a	f0bb345a-2e8b-4af6-8320-fc9be302a5ff	g.chr4:4436549G>C	ENST00000306200.2	-	7	713	c.650C>G	c.(649-651)aCg>aGg	p.T217R	STX18_ENST00000505286.1_Missense_Mutation_p.T217R	NM_016930.2	NP_058626.1	Q9P2W9	STX18_HUMAN	syntaxin 18	217					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.0534)		ATCTCCCCACGTTCCCAATTC	0.333																																																0													102	102	102					4																	4436549		2203	4300	6503	SO:0001583	missense	53407			AB028741	CCDS3377.1	4p16.3-p16.2	2013-09-23			ENSG00000168818	ENSG00000168818			15942	protein-coding gene	gene with protein product		606046				10788491	Standard	NM_016930		Approved	Ufe1	uc003gic.3	Q9P2W9	OTTHUMG00000090331	ENST00000306200.2:c.650C>G	chr4.hg19:g.4436549G>C	ENSP00000305810:p.Thr217Arg		Q596L3|Q5TZP5	Missense_Mutation	SNP	ENST00000306200.2	hg19	CCDS3377.1	.	.	.	.	.	.	.	.	.	.	G	10.08	1.252631	0.22880	.	.	ENSG00000168818	ENST00000505286;ENST00000306200;ENST00000512195;ENST00000507908	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	5.19	-0.775	0.10988	.	0.508381	0.19111	N	0.122452	T	0.25938	0.0632	L	0.34521	1.04	0.09310	N	1	B	0.21753	0.06	B	0.23852	0.049	T	0.24548	-1.0157	10	0.16420	T	0.52	-1.8989	8.4572	0.32906	0.1241:0.6685:0.2073:0.0	.	217	Q9P2W9	STX18_HUMAN	R	217;217;136;136	ENSP00000426648:T217R;ENSP00000305810:T217R;ENSP00000425483:T136R;ENSP00000422376:T136R	ENSP00000305810:T217R	T	-	2	0	STX18	4487450	0.000000	0.05858	0.016000	0.15963	0.922000	0.55478	0.387000	0.20718	-0.061000	0.13110	0.655000	0.94253	ACG		0.333	STX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206696.1			C	4436549	G	C	4436549	3	2	791	1	0	0	0	0	1	0	0	0	15346	1145	40	4	377	4	STX18	4	4436549	Missense_Mutation	SNP	G	TCGA-SX-A7SO-01A-11D-A34Z-10		4436549	186717727	15	47052											
PKD2L2	27039	hgsc.bcm.edu	37	5	137244511	137244511	+	Missense_Mutation	SNP	C	C	T			TCGA-SX-A7SO-01A-11D-A34Z-10	TCGA-SX-A7SO-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa1c7a5a-c790-4454-a6b9-3e6510dd803a	f0bb345a-2e8b-4af6-8320-fc9be302a5ff	g.chr5:137244511C>T	ENST00000508883.1	+	8	1230	c.1204C>T	c.(1204-1206)Cgt>Tgt	p.R402C	PKD2L2_ENST00000508638.1_Intron|PKD2L2_ENST00000290431.5_Missense_Mutation_p.R402C|PKD2L2_ENST00000350250.4_Missense_Mutation_p.R368C|PKD2L2_ENST00000502810.1_Missense_Mutation_p.R380C			Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	402					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)			AACCTTGTCCCGTTGTGTTAA	0.318																																																0													103	92	96					5																	137244511		1828	4083	5911	SO:0001583	missense	27039			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.1204C>T	chr5.hg19:g.137244511C>T	ENSP00000424725:p.Arg402Cys		A6NK98|B4DXD2|E9PC91|E9PDG4|Q86YB4|Q9UNJ0	Missense_Mutation	SNP	ENST00000508883.1	hg19		.	.	.	.	.	.	.	.	.	.	C	13.90	2.374343	0.42105	.	.	ENSG00000078795	ENST00000350250;ENST00000502810;ENST00000508883;ENST00000290431	T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65	5.82	4.95	0.65309	Polycystin cation channel, PKD1/PKD2 (1);	0.091705	0.48767	N	0.000179	T	0.79009	0.4374	M	0.85373	2.75	0.80722	D	1	P;P	0.47841	0.834;0.901	P;B	0.47705	0.555;0.232	T	0.83180	-0.0089	10	0.87932	D	0	-0.9502	14.562	0.68148	0.0:0.9293:0.0:0.0707	.	402;402	Q9NZM6;Q9NZM6-5	PK2L2_HUMAN;.	C	368;380;402;402	ENSP00000344177:R368C;ENSP00000425513:R380C;ENSP00000424725:R402C;ENSP00000290431:R402C	ENSP00000290431:R402C	R	+	1	0	PKD2L2	137272410	0.994000	0.37717	0.983000	0.44433	0.515000	0.34225	2.672000	0.46850	1.468000	0.48064	0.561000	0.74099	CGT		0.318	PKD2L2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372521.1	NM_014386		T	137244511	C	T	137244511	3	4	791	1	0	0	0	0	1	0	0	0	11970	652	23	1	1234	1	PKD2L2	5	137244511	Missense_Mutation	SNP	C	TCGA-SX-A7SO-01A-11D-A34Z-10		137244511	43670749	16	47053											
COL9A1	1297	hgsc.bcm.edu	37	6	70970367	70970367	+	Missense_Mutation	SNP	C	C	T			TCGA-SX-A7SO-01A-11D-A34Z-10	TCGA-SX-A7SO-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa1c7a5a-c790-4454-a6b9-3e6510dd803a	f0bb345a-2e8b-4af6-8320-fc9be302a5ff	g.chr6:70970367C>T	ENST00000357250.6	-	20	1600	c.1442G>A	c.(1441-1443)gGg>gAg	p.G481E	COL9A1_ENST00000320755.7_Missense_Mutation_p.G238E|COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000370499.4_Missense_Mutation_p.G238E	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	481	Collagen-like 5.|Triple-helical region (COL2).				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.G481V(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						TACTTTTTCCCCTTTGTCCCC	0.333																																																1	Substitution - Missense(1)	ovary(1)											62	62	62					6																	70970367		2203	4300	6503	SO:0001583	missense	1297				CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.1442G>A	chr6.hg19:g.70970367C>T	ENSP00000349790:p.Gly481Glu		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	ENST00000357250.6	hg19	CCDS4971.1	.	.	.	.	.	.	.	.	.	.	C	16.86	3.239425	0.58995	.	.	ENSG00000112280	ENST00000357250;ENST00000320755;ENST00000370499	D;D;D	0.99488	-6.0;-6.0;-5.77	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.99837	0.9926	H	0.99415	4.555	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	0.96750	0.9553	10	0.87932	D	0	.	17.1033	0.86655	0.0:1.0:0.0:0.0	.	481;238;54	P20849;P20849-2;B3KWS8	CO9A1_HUMAN;.;.	E	481;238;238	ENSP00000349790:G481E;ENSP00000315252:G238E;ENSP00000359530:G238E	ENSP00000315252:G238E	G	-	2	0	COL9A1	71027088	0.998000	0.40836	0.967000	0.41034	0.935000	0.57460	5.054000	0.64275	2.775000	0.95449	0.655000	0.94253	GGG		0.333	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2			T	70970367	C	T	70970367	3	4	791	1	0	0	0	0	1	0	0	0	3709	623	22	2	1399	2	COL9A1	6	70970367	Missense_Mutation	SNP	C	TCGA-SX-A7SO-01A-11D-A34Z-10		70970367	100144700	17	47054											
ZNF398	57541	hgsc.bcm.edu	37	7	148851297	148851297	+	Silent	SNP	G	G	A			TCGA-SX-A7SO-01A-11D-A34Z-10	TCGA-SX-A7SO-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa1c7a5a-c790-4454-a6b9-3e6510dd803a	f0bb345a-2e8b-4af6-8320-fc9be302a5ff	g.chr7:148851297G>A	ENST00000475153.1	+	2	552	c.285G>A	c.(283-285)aaG>aaA	p.K95K	ZNF398_ENST00000485111.1_3'UTR|ZNF398_ENST00000540950.1_Silent_p.K100K|ZNF398_ENST00000335901.4_5'UTR|ZNF398_ENST00000420008.2_5'UTR|ZNF398_ENST00000491174.1_5'UTR|ZNF398_ENST00000483892.1_5'UTR|ZNF398_ENST00000426851.2_5'UTR			Q8TD17	ZN398_HUMAN	zinc finger protein 398	95					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)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			TGGAGGGCAAGTGGGCCGTGC	0.597																																																0													64	66	65					7																	148851297		2203	4300	6503	SO:0001819	synonymous_variant	57541			AB037760	CCDS5894.1, CCDS47739.1	7q35	2013-01-08			ENSG00000197024	ENSG00000197024		"Zinc fingers, C2H2-type", "-"	18373	protein-coding gene	gene with protein product						11779858	Standard	NM_170686		Approved	ZER6, KIAA1339, P51, P71	uc003wfl.3	Q8TD17	OTTHUMG00000158970	ENST00000475153.1:c.285G>A	chr7.hg19:g.148851297G>A			A8K384|B4E377|Q8TD18|Q9P2K7|Q9UDV8	Silent	SNP	ENST00000475153.1	hg19	CCDS5894.1																																																																																				0.597	ZNF398-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352722.2			A	148851297	G	A	148851297	2	1	791	1	0	0	0	0	0	0	0	1	17890	1020	36	2		2	ZNF398	7	148851297	Silent	SNP	G	TCGA-SX-A7SO-01A-11D-A34Z-10		148851297	10287366	18	47055											
CELF2	10659	hgsc.bcm.edu	37	10	11308581	11308581	+	Missense_Mutation	SNP	T	T	A			TCGA-SX-A7SO-01A-11D-A34Z-10	TCGA-SX-A7SO-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa1c7a5a-c790-4454-a6b9-3e6510dd803a	f0bb345a-2e8b-4af6-8320-fc9be302a5ff	g.chr10:11308581T>A	ENST00000379261.4	+	6	630	c.538T>A	c.(538-540)Tct>Act	p.S180T	CELF2_ENST00000608830.1_Missense_Mutation_p.S156T|CELF2_ENST00000354440.2_Missense_Mutation_p.S156T|CELF2_ENST00000416382.2_Missense_Mutation_p.S180T|CELF2_ENST00000427450.1_Missense_Mutation_p.S156T|CELF2_ENST00000315874.4_Missense_Mutation_p.S156T|CELF2_ENST00000609692.1_Missense_Mutation_p.S156T|CELF2_ENST00000354897.3_Missense_Mutation_p.S156T|CELF2_ENST00000417956.2_Missense_Mutation_p.S156T|CELF2_ENST00000399850.3_Missense_Mutation_p.S156T|CELF2_ENST00000542579.1_Missense_Mutation_p.S187T|CELF2_ENST00000537122.1_Missense_Mutation_p.S69T|CELF2_ENST00000450189.1_Missense_Mutation_p.S187T	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	180	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				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						TGTCACATTTTCTACAAGGGC	0.448																																																0													173	159	164					10																	11308581		1983	4172	6155	SO:0001583	missense	10659			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.538T>A	chr10.hg19:g.11308581T>A	ENSP00000368563:p.Ser180Thr		B7ZAN9|Q7KYU4|Q8N499|Q92950|Q96NW9|Q96RQ5|Q96RQ6|Q9UL67	Missense_Mutation	SNP	ENST00000379261.4	hg19	CCDS44354.1	.	.	.	.	.	.	.	.	.	.	T	2.328	-0.354040	0.05173	.	.	ENSG00000048740	ENST00000379261;ENST00000416382;ENST00000450189;ENST00000542579;ENST00000399850;ENST00000417956;ENST00000315874;ENST00000354440;ENST00000354897;ENST00000427450;ENST00000537122	T;T;T;T;T;T;T;T;T;T	0.15139	2.45;2.45;2.45;2.45;2.45;2.45;2.45;2.45;2.45;2.45	5.96	5.96	0.96718	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.049275	0.85682	D	0.000000	T	0.11750	0.0286	N	0.25031	0.7	0.80722	D	1	B;B;P;B;B;B	0.39576	0.002;0.006;0.679;0.081;0.028;0.003	B;B;B;B;B;B	0.35182	0.016;0.016;0.197;0.097;0.044;0.016	T	0.16958	-1.0385	10	0.12103	T	0.63	-14.4969	16.4338	0.83864	0.0:0.0:0.0:1.0	.	164;180;175;187;175;180	B4DDE7;B4DS31;B2RA86;E9PC62;O95319-3;O95319	.;.;.;.;.;CELF2_HUMAN	T	180;180;187;187;156;156;156;156;156;156;69	ENSP00000368563:S180T;ENSP00000406451:S180T;ENSP00000389951:S187T;ENSP00000443926:S187T;ENSP00000382743:S156T;ENSP00000404834:S156T;ENSP00000315328:S156T;ENSP00000346426:S156T;ENSP00000388530:S156T;ENSP00000438884:S69T	ENSP00000315328:S156T	S	+	1	0	CELF2	11348587	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.889000	0.56212	2.270000	0.75569	0.533000	0.62120	TCT		0.448	CELF2-201	KNOWN	basic|CCDS	protein_coding	protein_coding				A	11308581	T	A	11308581	3	1	791	1	0	0	0	0	1	0	0	0	3218	1783	62	5	638	5	CELF2	10	11308581	Missense_Mutation	SNP	T	TCGA-SX-A7SO-01A-11D-A34Z-10		11308581	124226166	19	47056											
C10orf68	79741	hgsc.bcm.edu	37	10	33123784	33123786	+	In_Frame_Del	DEL	ATA	ATA	-			TCGA-SX-A7SO-01A-11D-A34Z-10	TCGA-SX-A7SO-10A-01D-A34Z-10	ATA	ATA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa1c7a5a-c790-4454-a6b9-3e6510dd803a	f0bb345a-2e8b-4af6-8320-fc9be302a5ff	g.chr10:33123784_33123786delATA	ENST00000375030.2	+	15	1618_1620	c.1000_1002delATA	c.(1000-1002)atadel	p.I335del	C10orf68_ENST00000375025.4_In_Frame_Del_p.I412del|C10orf68_ENST00000375028.3_In_Frame_Del_p.I352del			Q9H943	CJ068_HUMAN		376										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						TGGAAAAGATATAATAAAGCATC	0.305																																																0																																										SO:0001651	inframe_deletion	79741																														ENST00000375030.2:c.1000_1002delATA	chr10.hg19:g.33123787_33123789delATA	ENSP00000364170:p.Ile335del		B0QZ71|Q08AN7|Q8N7T7	In_Frame_Del	DEL	ENST00000375030.2	hg19																																																																																					0.305	C10orf68-001	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000313999.2			-	33123786	ATA	-	33123784	7	5	791	1	0	1	0	1	0	0	0	0	1615	449	16	0	1169	0	C10orf68	10	33123784	In_Frame_Del	DEL	ATA	TCGA-SX-A7SO-01A-11D-A34Z-10	21815203	33123784	102410963	20	47057											
NUDT13	25961	hgsc.bcm.edu	37	10	74884008	74884008	+	Missense_Mutation	SNP	A	A	G			TCGA-SX-A7SO-01A-11D-A34Z-10	TCGA-SX-A7SO-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa1c7a5a-c790-4454-a6b9-3e6510dd803a	f0bb345a-2e8b-4af6-8320-fc9be302a5ff	g.chr10:74884008A>G	ENST00000357321.4	+	5	513	c.395A>G	c.(394-396)aAg>aGg	p.K132R	NUDT13_ENST00000537969.1_Intron|NUDT13_ENST00000544879.1_Missense_Mutation_p.K6R|NUDT13_ENST00000488223.1_3'UTR|NUDT13_ENST00000372997.3_Missense_Mutation_p.K132R|RP11-152N13.16_ENST00000608444.1_RNA|NUDT13_ENST00000349051.5_Missense_Mutation_p.K132R|SNORA11_ENST00000408237.1_RNA	NM_001283016.1|NM_015901.4	NP_001269945.1|NP_056985.3			nudix (nucleoside diphosphate linked moiety X)-type motif 13											large_intestine(2)|lung(5)	7	Prostate(51;0.0119)					ACAGAGCTCAAGGGGTCTTTC	0.423																																																0													89	89	89					10																	74884008		2203	4300	6503	SO:0001583	missense	25961			AL050114	CCDS31220.1, CCDS60551.1, CCDS60552.1, CCDS60553.1, CCDS73148.1	10q22.3	2014-04-24			ENSG00000166321	ENSG00000166321		"Nudix motif containing"	18827	protein-coding gene	gene with protein product		609233				15164054	Standard	NM_001283019		Approved	DKFZp586P2219	uc001jtj.3	Q86X67	OTTHUMG00000018453	ENST00000357321.4:c.395A>G	chr10.hg19:g.74884008A>G	ENSP00000349874:p.Lys132Arg			Missense_Mutation	SNP	ENST00000357321.4	hg19	CCDS31220.1	.	.	.	.	.	.	.	.	.	.	A	12.91	2.080125	0.36662	.	.	ENSG00000166321	ENST00000357321;ENST00000349051;ENST00000544879;ENST00000372997	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	5.78	0.0152	0.14103	NADH pyrophosphatase-like, N-terminal (1);	1.129060	0.06171	N	0.677690	T	0.18635	0.0447	L	0.29908	0.895	0.31085	N	0.711441	B;B;B	0.27140	0.169;0.046;0.012	B;B;B	0.20767	0.031;0.029;0.011	T	0.35051	-0.9804	10	0.15952	T	0.53	.	5.0363	0.14436	0.5681:0.1459:0.286:0.0	.	132;132;132	Q86X67-2;Q5SQM6;Q86X67	.;.;NUD13_HUMAN	R	132;132;6;132	ENSP00000349874:K132R;ENSP00000335326:K132R;ENSP00000440760:K6R;ENSP00000362088:K132R	ENSP00000335326:K132R	K	+	2	0	NUDT13	74554014	0.553000	0.26513	0.515000	0.27774	0.985000	0.73830	1.094000	0.30951	-0.157000	0.11059	0.533000	0.62120	AAG		0.423	NUDT13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048614.1	NM_015901		G	74884008	A	G	74884008	3	3	791	1	0	0	0	0	1	0	0	0	10731	72	3	3	409	3	NUDT13	10	74884008	Missense_Mutation	SNP	A	TCGA-SX-A7SO-01A-11D-A34Z-10	41760224	74884008	60650739	21	47058											
LRIT1	26103	hgsc.bcm.edu	37	10	85997255	85997255	+	Missense_Mutation	SNP	G	G	A			TCGA-SX-A7SO-01A-11D-A34Z-10	TCGA-SX-A7SO-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa1c7a5a-c790-4454-a6b9-3e6510dd803a	f0bb345a-2e8b-4af6-8320-fc9be302a5ff	g.chr10:85997255G>A	ENST00000372105.3	-	2	331	c.310C>T	c.(310-312)Cgg>Tgg	p.R104W		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	104						integral component of endoplasmic reticulum membrane (GO:0030176)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						CGCAGGCCCCGCAGCATGAGG	0.731																																																0													7	9	8					10																	85997255		2119	4164	6283	SO:0001583	missense	26103			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.310C>T	chr10.hg19:g.85997255G>A	ENSP00000361177:p.Arg104Trp		Q0QD41|Q9Y4N7	Missense_Mutation	SNP	ENST00000372105.3	hg19	CCDS7373.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.199249	0.79015	.	.	ENSG00000148602	ENST00000372105	T	0.52983	0.64	4.93	1.89	0.25635	.	0.142637	0.46145	D	0.000317	T	0.56863	0.2014	M	0.76170	2.325	0.39900	D	0.973881	D	0.69078	0.997	P	0.52343	0.696	T	0.63274	-0.6674	10	0.72032	D	0.01	.	12.1	0.53778	0.0:0.0:0.3369:0.6631	.	104	Q9P2V4	LRIT1_HUMAN	W	104	ENSP00000361177:R104W	ENSP00000361177:R104W	R	-	1	2	LRIT1	85987235	0.612000	0.27000	0.796000	0.32109	0.989000	0.77384	1.233000	0.32648	0.202000	0.20498	0.655000	0.94253	CGG		0.731	LRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049109.1	NM_015613		A	85997255	G	A	85997255	3	1	791	1	0	0	0	0	1	0	0	0	8949	1086	38	1	1573	1	LRIT1	10	85997255	Missense_Mutation	SNP	G	TCGA-SX-A7SO-01A-11D-A34Z-10	11113247	85997255	49537492	22	47059											
LRDD	79751	hgsc.bcm.edu	37	11	799527	799527	+	5'Flank	SNP	G	G	C			TCGA-SX-A7SO-01A-11D-A34Z-10	TCGA-SX-A7SO-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa1c7a5a-c790-4454-a6b9-3e6510dd803a	f0bb345a-2e8b-4af6-8320-fc9be302a5ff	g.chr11:799527G>C	ENST00000531214.1	-	0	0				PIDD_ENST00000347755.5_Missense_Mutation_p.S838C|PIDD_ENST00000411829.2_Missense_Mutation_p.S821C	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)		CTCAGCCCAGGAGAAGAGCAT	0.672																																					Colon(93;848 1468 3270 23355 49636)											0													32	30	31					11																	799527		2199	4290	6489	SO:0001631	upstream_gene_variant	55367			AJ428202	CCDS7715.1	11p15.5	2013-05-22			ENSG00000177542	ENSG00000177542		"Solute carriers"	19954	protein-coding gene	gene with protein product		609302				11897791	Standard	NM_024698		Approved	GC1, FLJ13044, NET44, EIEE3	uc001lrj.3	Q9H936	OTTHUMG00000133310		chr11.hg19:g.799527G>C	Exception_encountered		A8K366|C9J1H6|E9PJD3|E9PKB2|E9PL68|E9PN26|E9PNQ3|E9PP01|E9PR97|Q8TBU8	Missense_Mutation	SNP	ENST00000531214.1	hg19	CCDS7715.1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.664457	0.67700	.	.	ENSG00000177595	ENST00000411829;ENST00000347755	D;D	0.85702	-2.02;-2.02	4.74	4.74	0.60224	Death (3);DEATH-like (2);	0.143577	0.49305	D	0.000148	D	0.89832	0.6829	L	0.46157	1.445	0.37083	D	0.899066	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.995;0.998;0.988	D	0.90731	0.4642	10	0.39692	T	0.17	.	18.0695	0.89402	0.0:0.0:1.0:0.0	.	838;681;821	Q9HB75;Q9HB75-3;Q9HB75-2	PIDD_HUMAN;.;.	C	821;838	ENSP00000416801:S821C;ENSP00000337797:S838C	ENSP00000337797:S838C	S	-	2	0	PIDD	789527	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	5.070000	0.64376	2.338000	0.79540	0.448000	0.29417	TCC		0.672	SLC25A22-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384124.1			C	799527	G	C	799527	1	2	791	0	1	0	0	0	0	0	0	0	8938	1174	41	4		4	LRDD	11	799527	5'Flank	SNP	G	TCGA-SX-A7SO-01A-11D-A34Z-10		799527	134206989	23	47060											
OR51G2	81282	hgsc.bcm.edu	37	11	4936639	4936639	+	Silent	SNP	T	T	A			TCGA-SX-A7SO-01A-11D-A34Z-10	TCGA-SX-A7SO-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa1c7a5a-c790-4454-a6b9-3e6510dd803a	f0bb345a-2e8b-4af6-8320-fc9be302a5ff	g.chr11:4936639T>A	ENST00000322013.3	-	1	283	c.255A>T	c.(253-255)acA>acT	p.T85T	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	85						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)		TGCCCAGGACTGTAGGGAGAG	0.483																																																0													83	74	77					11																	4936639		2201	4298	6499	SO:0001819	synonymous_variant	81282			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.255A>T	chr11.hg19:g.4936639T>A			Q6IFH7	Silent	SNP	ENST00000322013.3	hg19	CCDS31365.1																																																																																				0.483	OR51G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142174.1	NM_001005238		A	4936639	T	A	4936639	2	1	791	1	0	0	0	0	0	0	0	1	11101	1567	55	5		5	OR51G2	11	4936639	Silent	SNP	T	TCGA-SX-A7SO-01A-11D-A34Z-10	4137112	4936639	130069877	24	47061											
SLC5A12	159963	hgsc.bcm.edu	37	11	26743093	26743093	+	Missense_Mutation	SNP	G	G	C			TCGA-SX-A7SO-01A-11D-A34Z-10	TCGA-SX-A7SO-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa1c7a5a-c790-4454-a6b9-3e6510dd803a	f0bb345a-2e8b-4af6-8320-fc9be302a5ff	g.chr11:26743093G>C	ENST00000396005.3	-	1	478	c.169C>G	c.(169-171)Ctg>Gtg	p.L57V	SLC5A12_ENST00000280467.6_Missense_Mutation_p.L57V	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	57					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						CTGGCTGTCAGAGACAAGCCG	0.512																																																0													67	68	68					11																	26743093		2203	4299	6502	SO:0001583	missense	159963			BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"Solute carriers"	28750	protein-coding gene	gene with protein product		612455	"solute carrier family 5 (sodium/glucose cotransporter), member 12"			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.169C>G	chr11.hg19:g.26743093G>C	ENSP00000379326:p.Leu57Val		Q86UC7	Missense_Mutation	SNP	ENST00000396005.3	hg19	CCDS7860.2	.	.	.	.	.	.	.	.	.	.	G	21.3	4.123364	0.77436	.	.	ENSG00000148942	ENST00000396005;ENST00000280467	D;D	0.89343	-2.5;-2.5	5.59	4.49	0.54785	.	0.000000	0.64402	D	0.000011	D	0.94837	0.8332	M	0.86573	2.825	0.53005	D	0.999963	D;D	0.89917	0.997;1.0	D;D	0.97110	0.976;1.0	D	0.95388	0.8479	10	0.87932	D	0	.	15.3594	0.74460	0.0783:0.0:0.9217:0.0	.	57;57	Q1EHB4-2;Q1EHB4	.;SC5AC_HUMAN	V	57	ENSP00000379326:L57V;ENSP00000280467:L57V	ENSP00000280467:L57V	L	-	1	2	SLC5A12	26699669	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	6.698000	0.74608	2.643000	0.89663	0.585000	0.79938	CTG		0.512	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319681.1	NM_178498		C	26743093	G	C	26743093	3	2	791	1	0	0	0	0	1	0	0	0	14670	933	33	4	1747	4	SLC5A12	11	26743093	Missense_Mutation	SNP	G	TCGA-SX-A7SO-01A-11D-A34Z-10	21806454	26743093	108263423	25	47062											
OR8K3	219473	hgsc.bcm.edu	37	11	56086707	56086707	+	Missense_Mutation	SNP	A	A	T			TCGA-SX-A7SO-01A-11D-A34Z-10	TCGA-SX-A7SO-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa1c7a5a-c790-4454-a6b9-3e6510dd803a	f0bb345a-2e8b-4af6-8320-fc9be302a5ff	g.chr11:56086707A>T	ENST00000312711.1	+	1	925	c.925A>T	c.(925-927)Aat>Tat	p.N309Y		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	309						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)					TAACTTATGTAATATTTTTGT	0.318																																																0													29	29	29					11																	56086707		2200	4295	6495	SO:0001583	missense	219473			AB065541	CCDS31527.1	11q11	2012-08-09			ENSG00000181689	ENSG00000181689		"GPCR / Class A : Olfactory receptors"	15313	protein-coding gene	gene with protein product							Standard	NM_001005202		Approved		uc010rjf.2	Q8NH51	OTTHUMG00000166855	ENST00000312711.1:c.925A>T	chr11.hg19:g.56086707A>T	ENSP00000323555:p.Asn309Tyr		Q6IFC4	Missense_Mutation	SNP	ENST00000312711.1	hg19	CCDS31527.1	.	.	.	.	.	.	.	.	.	.	A	11.01	1.513383	0.27123	.	.	ENSG00000181689	ENST00000312711	T	0.00004	9.8	3.9	2.76	0.32466	.	1.533820	0.03744	N	0.255508	T	0.00073	0.0002	N	0.08118	0	0.09310	N	1	P	0.37612	0.602	P	0.47744	0.556	T	0.17715	-1.0360	10	0.33141	T	0.24	.	5.9741	0.19369	0.8777:0.0:0.1223:0.0	.	309	Q8NH51	OR8K3_HUMAN	Y	309	ENSP00000323555:N309Y	ENSP00000323555:N309Y	N	+	1	0	OR8K3	55843283	0.001000	0.12720	0.001000	0.08648	0.002000	0.02628	1.242000	0.32755	0.659000	0.30945	0.386000	0.25728	AAT		0.318	OR8K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391602.1	NM_001005202		T	56086707	A	T	56086707	3	4	791	1	0	0	0	0	1	0	0	0	11246	362	13	5	927	5	OR8K3	11	56086707	Missense_Mutation	SNP	A	TCGA-SX-A7SO-01A-11D-A34Z-10	29343614	56086707	78919809	26	47063											
HTR3A	3359	hgsc.bcm.edu	37	11	113860244	113860244	+	Missense_Mutation	SNP	G	G	C			TCGA-SX-A7SO-01A-11D-A34Z-10	TCGA-SX-A7SO-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa1c7a5a-c790-4454-a6b9-3e6510dd803a	f0bb345a-2e8b-4af6-8320-fc9be302a5ff	g.chr11:113860244G>C	ENST00000504030.2	+	9	1641	c.1196G>C	c.(1195-1197)aGg>aCg	p.R399T	HTR3A_ENST00000535865.1_Missense_Mutation_p.R143T|HTR3A_ENST00000355556.2_Missense_Mutation_p.R437T|HTR3A_ENST00000299961.5_Missense_Mutation_p.R384T|HTR3A_ENST00000375498.2_Missense_Mutation_p.R405T|HTR3A_ENST00000506841.2_Missense_Mutation_p.R431T			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	399					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)	AAGAGCCCGAGGGACAGATGT	0.647																																																0													71	79	76					11																	113860244		2201	4296	6497	SO:0001583	missense	3359			D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	5297	protein-coding gene	gene with protein product		182139	"5-hydroxytryptamine (serotonin) receptor 3A"	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.1196G>C	chr11.hg19:g.113860244G>C	ENSP00000424189:p.Arg399Thr		B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Missense_Mutation	SNP	ENST00000504030.2	hg19		.	.	.	.	.	.	.	.	.	.	G	6.392	0.440481	0.12104	.	.	ENSG00000166736	ENST00000504030;ENST00000355556;ENST00000375498;ENST00000506841;ENST00000535865;ENST00000299961	T;T;T;T;T;T	0.70399	1.9;-0.48;1.9;-0.48;1.9;1.9	5.4	2.34	0.29019	.	0.571132	0.21049	N	0.081029	T	0.55097	0.1899	L	0.29908	0.895	0.09310	N	1	B;B;B	0.26602	0.093;0.129;0.154	B;B;B	0.31101	0.124;0.108;0.124	T	0.43228	-0.9404	10	0.30078	T	0.28	-10.4059	7.7112	0.28679	0.1523:0.1371:0.7106:0.0	.	384;437;405	B4DSY6;G5E986;Q7KZM7	.;.;.	T	399;437;405;431;143;384	ENSP00000424189:R399T;ENSP00000347754:R437T;ENSP00000364648:R405T;ENSP00000424776:R431T;ENSP00000437776:R143T;ENSP00000299961:R384T	ENSP00000299961:R384T	R	+	2	0	HTR3A	113365454	0.000000	0.05858	0.008000	0.14137	0.002000	0.02628	0.094000	0.15107	1.423000	0.47198	0.650000	0.86243	AGG		0.647	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869		C	113860244	G	C	113860244	3	2	791	1	0	0	0	0	1	0	0	0	7446	1000	35	4	1366	4	HTR3A	11	113860244	Missense_Mutation	SNP	G	TCGA-SX-A7SO-01A-11D-A34Z-10	57773537	113860244	21146272	27	47064											
INHBE	83729	hgsc.bcm.edu	37	12	57850456	57850456	+	Missense_Mutation	SNP	C	C	G			TCGA-SX-A7SO-01A-11D-A34Z-10	TCGA-SX-A7SO-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa1c7a5a-c790-4454-a6b9-3e6510dd803a	f0bb345a-2e8b-4af6-8320-fc9be302a5ff	g.chr12:57850456C>G	ENST00000266646.2	+	2	1094	c.878C>G	c.(877-879)tCt>tGt	p.S293C	INHBE_ENST00000551553.1_3'UTR	NM_031479.3	NP_113667.1	P58166	INHBE_HUMAN	inhibin, beta E	293					growth (GO:0040007)	extracellular region (GO:0005576)				breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						ATTGCTGCCTCTTTCCATTCT	0.612											OREG0021944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(191;1808 2166 15720 36624 50371)											0													105	80	88					12																	57850456		2203	4300	6503	SO:0001583	missense	83729				CCDS8939.1	12q13.2	2008-02-05				ENSG00000139269			24029	protein-coding gene	gene with protein product		612031				12242034	Standard	NM_031479		Approved	activin, MGC4638	uc001snw.3	P58166		ENST00000266646.2:c.878C>G	chr12.hg19:g.57850456C>G	ENSP00000266646:p.Ser293Cys	1026		Missense_Mutation	SNP	ENST00000266646.2	hg19	CCDS8939.1	.	.	.	.	.	.	.	.	.	.	C	19.81	3.897332	0.72639	.	.	ENSG00000139269	ENST00000547970;ENST00000266646	T;T	0.64803	-0.12;-0.12	4.79	4.79	0.61399	Transforming growth factor-beta, C-terminal (3);	0.061993	0.64402	D	0.000003	D	0.83848	0.5343	M	0.92970	3.365	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	D	0.87710	0.2566	10	0.72032	D	0.01	-7.2053	17.1522	0.86781	0.0:1.0:0.0:0.0	.	293	P58166	INHBE_HUMAN	C	238;293	ENSP00000450212:S238C;ENSP00000266646:S293C	ENSP00000266646:S293C	S	+	2	0	INHBE	56136723	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	7.563000	0.82314	2.653000	0.90120	0.655000	0.94253	TCT		0.612	INHBE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406773.1	NM_031479		G	57850456	C	G	57850456	3	3	791	1	0	0	0	0	1	0	0	0	7746	913	32	4	884	4	INHBE	12	57850456	Missense_Mutation	SNP	C	TCGA-SX-A7SO-01A-11D-A34Z-10		57850456	76001439	28	47065											
PLBD2	196463	hgsc.bcm.edu	37	12	113823023	113823023	+	Missense_Mutation	SNP	G	G	A			TCGA-SX-A7SO-01A-11D-A34Z-10	TCGA-SX-A7SO-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa1c7a5a-c790-4454-a6b9-3e6510dd803a	f0bb345a-2e8b-4af6-8320-fc9be302a5ff	g.chr12:113823023G>A	ENST00000280800.3	+	9	1252	c.1221G>A	c.(1219-1221)atG>atA	p.M407I	PLBD2_ENST00000545182.2_Missense_Mutation_p.M375I	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	407					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						TCAGCGGCATGGTGGTGGTGG	0.627																																																0													169	122	138					12																	113823023		2203	4300	6503	SO:0001583	missense	196463			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.1221G>A	chr12.hg19:g.113823023G>A	ENSP00000280800:p.Met407Ile		F5H5E2	Missense_Mutation	SNP	ENST00000280800.3	hg19	CCDS9168.1	.	.	.	.	.	.	.	.	.	.	G	9.882	1.201822	0.22121	.	.	ENSG00000151176	ENST00000545182;ENST00000280800	T;T	0.17370	2.28;2.28	4.52	4.52	0.55395	.	0.195034	0.51477	D	0.000092	T	0.17831	0.0428	L	0.45228	1.405	0.38915	D	0.957621	B;B	0.23128	0.08;0.007	B;B	0.23574	0.047;0.009	T	0.06006	-1.0851	10	0.29301	T	0.29	-29.7541	17.4488	0.87586	0.0:0.0:1.0:0.0	.	375;407	F5H5E2;Q8NHP8	.;PLBL2_HUMAN	I	375;407	ENSP00000443463:M375I;ENSP00000280800:M407I	ENSP00000280800:M407I	M	+	3	0	PLBD2	112307406	1.000000	0.71417	1.000000	0.80357	0.507000	0.33981	4.751000	0.62169	2.341000	0.79615	0.555000	0.69702	ATG		0.627	PLBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404835.1	NM_173542		A	113823023	G	A	113823023	3	1	791	1	0	0	0	0	1	0	0	0	12028	1348	47	2	1255	2	PLBD2	12	113823023	Missense_Mutation	SNP	G	TCGA-SX-A7SO-01A-11D-A34Z-10	55972567	113823023	20028872	29	47066											
CUL4A	8451	hgsc.bcm.edu	37	13	113893814	113893814	+	Silent	SNP	G	G	C			TCGA-SX-A7SO-01A-11D-A34Z-10	TCGA-SX-A7SO-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa1c7a5a-c790-4454-a6b9-3e6510dd803a	f0bb345a-2e8b-4af6-8320-fc9be302a5ff	g.chr13:113893814G>C	ENST00000375440.4	+	10	1068	c.984G>C	c.(982-984)cgG>cgC	p.R328R	CUL4A_ENST00000326335.4_Silent_p.R228R|CUL4A_ENST00000375441.3_Silent_p.R228R|CUL4A_ENST00000451881.1_Silent_p.R228R	NM_001008895.1	NP_001008895.1	Q13619	CUL4A_HUMAN	cullin 4A	328					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)			TGTTCAGCCGGGTGAGGGGCG	0.622																																																0													68	64	65					13																	113893814		2203	4300	6503	SO:0001819	synonymous_variant	8451			U58090	CCDS9533.1, CCDS41908.1, CCDS73604.1	13q34	2011-05-24			ENSG00000139842	ENSG00000139842			2554	protein-coding gene	gene with protein product		603137				8681378	Standard	NM_001008895		Approved		uc021rmv.1	Q13619	OTTHUMG00000017384	ENST00000375440.4:c.984G>C	chr13.hg19:g.113893814G>C			A2A2W2|O75834|Q589T6|Q5TC62|Q6UP08|Q9UP17	Silent	SNP	ENST00000375440.4	hg19	CCDS41908.1																																																																																				0.622	CUL4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045888.3	NM_003589		C	113893814	G	C	113893814	2	2	791	1	0	0	0	0	0	0	0	1	4059	1219	43	4		4	CUL4A	13	113893814	Silent	SNP	G	TCGA-SX-A7SO-01A-11D-A34Z-10		113893814	1276064	30	47067											
CASC5	57082	hgsc.bcm.edu	37	15	40916020	40916020	+	Frame_Shift_Del	DEL	C	C	-			TCGA-SX-A7SO-01A-11D-A34Z-10	TCGA-SX-A7SO-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa1c7a5a-c790-4454-a6b9-3e6510dd803a	f0bb345a-2e8b-4af6-8320-fc9be302a5ff	g.chr15:40916020delC	ENST00000346991.5	+	11	4026	c.3636delC	c.(3634-3636)aacfs	p.N1212fs	CASC5_ENST00000399668.2_Frame_Shift_Del_p.N1186fs			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1212					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)		TTGAAGAAAACCCTAAATTTG	0.378																																																0													46	44	44					15																	40916020		1809	4077	5886	SO:0001589	frameshift_variant	57082			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.3636delC	chr15.hg19:g.40916020delC	ENSP00000335463:p.Asn1212fs		Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Frame_Shift_Del	DEL	ENST00000346991.5	hg19	CCDS42023.1																																																																																				0.378	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508		-	40916020	C	-	40916020	7	5	791	1	0	1	0	1	0	0	0	0	2665	506	18	0	3674	0	CASC5	15	40916020	Frame_Shift_Del	DEL	C	TCGA-SX-A7SO-01A-11D-A34Z-10		40916020	61615372	31	47068											
ZNF280D	54816	hgsc.bcm.edu	37	15	56968913	56968913	+	Silent	SNP	A	A	G			TCGA-SX-A7SO-01A-11D-A34Z-10	TCGA-SX-A7SO-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa1c7a5a-c790-4454-a6b9-3e6510dd803a	f0bb345a-2e8b-4af6-8320-fc9be302a5ff	g.chr15:56968913A>G	ENST00000267807.7	-	13	1581	c.1365T>C	c.(1363-1365)gtT>gtC	p.V455V	ZNF280D_ENST00000559237.1_Silent_p.V442V|ZNF280D_ENST00000396245.1_Silent_p.V159V|ZNF280D_ENST00000559000.1_Silent_p.V442V	NM_017661.2	NP_060131.2	Q6N043	Z280D_HUMAN	zinc finger protein 280D	455					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		CAATTTTAATAACTTTGAGGC	0.303																																																0													139	139	139					15																	56968913		2192	4291	6483	SO:0001819	synonymous_variant	54816			AB046804	CCDS32245.1, CCDS42041.1, CCDS58364.1	15q21.2	2008-05-02	2007-09-20	2007-09-20					25953	protein-coding gene	gene with protein product			"suppressor of hairy wing homolog 4 (Drosophila)"	SUHW4		10997877	Standard	XM_005254481		Approved	FLJ20086, ZNF634	uc002adu.3	Q6N043		ENST00000267807.7:c.1365T>C	chr15.hg19:g.56968913A>G			A1L495|B2RMT6|Q6MZM6|Q6N085|Q6P2R6|Q7Z6J5|Q9H0U5|Q9HCI8|Q9NXS0	Silent	SNP	ENST00000267807.7	hg19	CCDS32245.1	.	.	.	.	.	.	.	.	.	.	A	9.834	1.189114	0.21954	.	.	ENSG00000137871	ENST00000260435	.	.	.	5.53	4.4	0.53042	.	.	.	.	.	T	0.67524	0.2902	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69379	-0.5161	5	0.87932	D	0	-13.6503	10.5058	0.44832	0.9239:0.0:0.0761:0.0	.	.	.	.	S	291	.	ENSP00000260435:L291S	L	-	2	0	ZNF280D	54756205	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.894000	0.28350	0.935000	0.37341	0.528000	0.53228	TTA		0.303	ZNF280D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418891.2	XM_370867		G	56968913	A	G	56968913	2	3	791	1	0	0	0	0	0	0	0	1	17822	349	13	3		3	ZNF280D	15	56968913	Silent	SNP	A	TCGA-SX-A7SO-01A-11D-A34Z-10	16052893	56968913	45562479	32	47069											
ZNF609	23060	hgsc.bcm.edu	37	15	64967353	64967353	+	Missense_Mutation	SNP	G	G	C			TCGA-SX-A7SO-01A-11D-A34Z-10	TCGA-SX-A7SO-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa1c7a5a-c790-4454-a6b9-3e6510dd803a	f0bb345a-2e8b-4af6-8320-fc9be302a5ff	g.chr15:64967353G>C	ENST00000326648.3	+	4	2428	c.2300G>C	c.(2299-2301)gGg>gCg	p.G767A		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	767						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						TCAGGAGATGGGATGAAAATG	0.512																																																0													69	77	75					15																	64967353		2203	4298	6501	SO:0001583	missense	23060			BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"Zinc fingers, C2H2-type"	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.2300G>C	chr15.hg19:g.64967353G>C	ENSP00000316527:p.Gly767Ala		Q0D2I2	Missense_Mutation	SNP	ENST00000326648.3	hg19	CCDS32270.1	.	.	.	.	.	.	.	.	.	.	G	4.931	0.172993	0.09391	.	.	ENSG00000180357	ENST00000326648	T	0.42131	0.98	5.88	4.97	0.65823	.	0.184234	0.47093	D	0.000243	T	0.36193	0.0958	L	0.34521	1.04	0.48632	D	0.99968	P	0.50156	0.932	P	0.47705	0.555	T	0.15065	-1.0450	10	0.05620	T	0.96	-11.1446	15.5658	0.76290	0.0:0.1368:0.8632:0.0	.	767	O15014	ZN609_HUMAN	A	767	ENSP00000316527:G767A	ENSP00000316527:G767A	G	+	2	0	ZNF609	62754406	1.000000	0.71417	0.990000	0.47175	0.905000	0.53344	4.377000	0.59562	1.483000	0.48342	0.655000	0.94253	GGG		0.512	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833		C	64967353	G	C	64967353	3	2	791	1	0	0	0	0	1	0	0	0	18040	1232	43	4	2314	4	ZNF609	15	64967353	Missense_Mutation	SNP	G	TCGA-SX-A7SO-01A-11D-A34Z-10	7998440	64967353	37564039	33	47070											
ANPEP	290	hgsc.bcm.edu	37	15	90349600	90349600	+	Missense_Mutation	SNP	T	T	C			TCGA-SX-A7SO-01A-11D-A34Z-10	TCGA-SX-A7SO-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa1c7a5a-c790-4454-a6b9-3e6510dd803a	f0bb345a-2e8b-4af6-8320-fc9be302a5ff	g.chr15:90349600T>C	ENST00000300060.6	-	2	528	c.215A>G	c.(214-216)aAt>aGt	p.N72S		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	72	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)	GCGGTAACGATTCCACGCTTT	0.622																																					NSCLC(30;827 977 2459 19669 26125)											0													135	120	125					15																	90349600		2200	4299	6499	SO:0001583	missense	290			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.215A>G	chr15.hg19:g.90349600T>C	ENSP00000300060:p.Asn72Ser		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Missense_Mutation	SNP	ENST00000300060.6	hg19	CCDS10356.1	.	.	.	.	.	.	.	.	.	.	T	12.88	2.071000	0.36566	.	.	ENSG00000166825	ENST00000300060	T	0.03920	3.76	4.74	4.74	0.60224	.	0.203738	0.50627	D	0.000113	T	0.09818	0.0241	M	0.81239	2.535	0.36847	D	0.887699	B	0.30709	0.291	B	0.34038	0.174	T	0.07966	-1.0745	10	0.27785	T	0.31	.	12.1916	0.54275	0.0:0.0:0.0:1.0	.	72	P15144	AMPN_HUMAN	S	72	ENSP00000300060:N72S	ENSP00000300060:N72S	N	-	2	0	ANPEP	88150604	1.000000	0.71417	0.931000	0.37212	0.067000	0.16453	7.924000	0.87555	1.770000	0.52166	0.383000	0.25322	AAT		0.622	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1			C	90349600	T	C	90349600	3	2	791	1	0	0	0	0	1	0	0	0	710	1493	52	3	2768	3	ANPEP	15	90349600	Missense_Mutation	SNP	T	TCGA-SX-A7SO-01A-11D-A34Z-10	25382247	90349600	12181792	34	47071											
SEZ6L2	26470	hgsc.bcm.edu	37	16	29888690	29888690	+	Missense_Mutation	SNP	C	C	T			TCGA-SX-A7SO-01A-11D-A34Z-10	TCGA-SX-A7SO-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa1c7a5a-c790-4454-a6b9-3e6510dd803a	f0bb345a-2e8b-4af6-8320-fc9be302a5ff	g.chr16:29888690C>T	ENST00000308713.5	-	11	2338	c.1811G>A	c.(1810-1812)cGc>cAc	p.R604H	SEZ6L2_ENST00000537485.1_Missense_Mutation_p.R560H|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.R490H|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.R534H	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	604	CUB 3. {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						GGAGAGAAGGCGGCGGCGCGG	0.662																																																0													17	20	19					16																	29888690		2191	4292	6483	SO:0001583	missense	26470			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.1811G>A	chr16.hg19:g.29888690C>T	ENSP00000312550:p.Arg604His		B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Missense_Mutation	SNP	ENST00000308713.5	hg19	CCDS10659.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.860218	0.91433	.	.	ENSG00000174938	ENST00000350527;ENST00000308713;ENST00000346932;ENST00000537485	T;T;T;T	0.18502	2.21;2.21;2.21;2.21	5.57	5.57	0.84162	CUB (5);	0.000000	0.53938	D	0.000048	T	0.28134	0.0694	L	0.37630	1.12	0.42529	D	0.993034	D;D;P;D;D;D	0.71674	0.996;0.996;0.529;0.994;0.995;0.998	D;P;B;P;P;P	0.63192	0.912;0.852;0.067;0.706;0.806;0.834	T	0.00885	-1.1527	10	0.59425	D	0.04	.	11.7566	0.51878	0.0:0.9183:0.0:0.0817	.	560;604;490;534;604;534	F5H293;B7Z5L4;Q9BW82;Q6UXD5-2;Q6UXD5;Q6UXD5-3	.;.;.;.;SE6L2_HUMAN;.	H	534;604;490;560	ENSP00000310206:R534H;ENSP00000312550:R604H;ENSP00000319215:R490H;ENSP00000439412:R560H	ENSP00000312550:R604H	R	-	2	0	SEZ6L2	29796191	0.999000	0.42202	1.000000	0.80357	0.961000	0.63080	1.699000	0.37804	2.618000	0.88619	0.655000	0.94253	CGC		0.662	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	NM_012410		T	29888690	C	T	29888690	3	4	791	1	0	0	0	0	1	0	0	0	14150	768	27	1	992	1	SEZ6L2	16	29888690	Missense_Mutation	SNP	C	TCGA-SX-A7SO-01A-11D-A34Z-10		29888690	60466063	35	47072											
PIK3R5	23533	hgsc.bcm.edu	37	17	8784018	8784018	+	Missense_Mutation	SNP	C	C	T			TCGA-SX-A7SO-01A-11D-A34Z-10	TCGA-SX-A7SO-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa1c7a5a-c790-4454-a6b9-3e6510dd803a	f0bb345a-2e8b-4af6-8320-fc9be302a5ff	g.chr17:8784018C>T	ENST00000447110.1	-	19	2705	c.2581G>A	c.(2581-2583)Gca>Aca	p.A861T	PIK3R5_ENST00000584803.1_Missense_Mutation_p.A860T|PIK3R5_ENST00000581552.1_Missense_Mutation_p.A861T	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	861					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						AGATCAGGTGCGGCCTGGGCC	0.637																																					NSCLC(18;589 615 7696 20311 50332)											0													75	69	71					17																	8784018		2203	4300	6503	SO:0001583	missense	23533			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.2581G>A	chr17.hg19:g.8784018C>T	ENSP00000392812:p.Ala861Thr		B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Missense_Mutation	SNP	ENST00000447110.1	hg19	CCDS11147.1	.	.	.	.	.	.	.	.	.	.	C	7.212	0.595670	0.13875	.	.	ENSG00000141506	ENST00000269300;ENST00000447110	T	0.77229	-1.08	5.17	-10.3	0.00346	.	1.078560	0.07024	N	0.827233	T	0.41282	0.1152	N	0.03608	-0.345	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.32851	-0.9891	10	0.11485	T	0.65	0.3415	1.3976	0.02264	0.232:0.1263:0.2009:0.4408	.	861	Q8WYR1	PI3R5_HUMAN	T	861	ENSP00000392812:A861T	ENSP00000269300:A861T	A	-	1	0	PIK3R5	8724743	0.000000	0.05858	0.000000	0.03702	0.134000	0.20937	-1.878000	0.01630	-3.029000	0.00267	-0.254000	0.11334	GCA		0.637	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308		T	8784018	C	T	8784018	3	4	791	1	0	0	0	0	1	0	0	0	11924	768	27	1	65	1	PIK3R5	17	8784018	Missense_Mutation	SNP	C	TCGA-SX-A7SO-01A-11D-A34Z-10		8784018	72411192	36	47073											
C17orf66	256957	hgsc.bcm.edu	37	17	34182703	34182703	+	Missense_Mutation	SNP	G	G	T			TCGA-SX-A7SO-01A-11D-A34Z-10	TCGA-SX-A7SO-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa1c7a5a-c790-4454-a6b9-3e6510dd803a	f0bb345a-2e8b-4af6-8320-fc9be302a5ff	g.chr17:34182703G>T	ENST00000311880.2	-	14	1478	c.1330C>A	c.(1330-1332)Cta>Ata	p.L444I	C17orf66_ENST00000592980.1_Missense_Mutation_p.L404I	NM_152781.2	NP_689994.2	A2RTY3	HEAT9_HUMAN		444					hematopoietic progenitor cell differentiation (GO:0002244)					breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		TCTGCATCTAGTAAGTCCAGG	0.542																																																0													122	112	116					17																	34182703		2203	4300	6503	SO:0001583	missense	256957																														ENST00000311880.2:c.1330C>A	chr17.hg19:g.34182703G>T	ENSP00000309560:p.Leu444Ile		B4DX21|B4DXA4|B4DXF0|Q8N4R4|Q96M46	Missense_Mutation	SNP	ENST00000311880.2	hg19	CCDS11299.1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.221343	0.39300	.	.	ENSG00000172653	ENST00000311880	T	0.30714	1.52	4.29	2.23	0.28157	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.34223	N	0.004141	T	0.37265	0.0997	L	0.32530	0.975	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.992;0.996	T	0.09997	-1.0649	10	0.45353	T	0.12	.	6.4579	0.21940	0.2311:0.0:0.7689:0.0	.	404;444	A2RTY3-3;A2RTY3	.;CQ066_HUMAN	I	444	ENSP00000309560:L444I	ENSP00000309560:L444I	L	-	1	2	C17orf66	31206816	1.000000	0.71417	0.998000	0.56505	0.180000	0.23129	0.630000	0.24553	1.007000	0.39238	0.563000	0.77884	CTA		0.542	C17orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256487.1			T	34182703	G	T	34182703	3	4	791	1	0	0	0	0	1	0	0	0	1876	1020	36	4	390	4	C17orf66	17	34182703	Missense_Mutation	SNP	G	TCGA-SX-A7SO-01A-11D-A34Z-10	25398685	34182703	47012507	37	47074											
KRTAP4-3	85290	hgsc.bcm.edu	37	17	39323904	39323904	+	Missense_Mutation	SNP	C	C	T			TCGA-SX-A7SO-01A-11D-A34Z-10	TCGA-SX-A7SO-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa1c7a5a-c790-4454-a6b9-3e6510dd803a	f0bb345a-2e8b-4af6-8320-fc9be302a5ff	g.chr17:39323904C>T	ENST00000391356.2	-	1	520	c.521G>A	c.(520-522)aGc>aAc	p.S174N		NM_033187.1	NP_149443.1	Q9BYR4	KRA43_HUMAN	keratin associated protein 4-3	174	29 X 5 AA repeats of C-C-[GIKRQVH]-[SPT]- [STA].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GGTCGGGCAGCTGAAAGGGCA	0.607																																																0													24	27	26					17																	39323904		2107	4239	6346	SO:0001583	missense	85290			AJ406935	CCDS42331.1	17q21.2	2013-06-25			ENSG00000196156	ENSG00000196156		"Keratin associated proteins"	18908	protein-coding gene	gene with protein product							Standard	NM_033187		Approved	KAP4.3	uc010cxl.3	Q9BYR4	OTTHUMG00000133639	ENST00000391356.2:c.521G>A	chr17.hg19:g.39323904C>T	ENSP00000375151:p.Ser174Asn			Missense_Mutation	SNP	ENST00000391356.2	hg19	CCDS42331.1	.	.	.	.	.	.	.	.	.	.	.	14.96	2.692824	0.48202	.	.	ENSG00000196156	ENST00000391356	T	0.00622	6.16	5.15	4.16	0.48862	.	.	.	.	.	T	0.01222	0.0040	L	0.32530	0.975	0.09310	N	0.999997	P	0.42078	0.77	P	0.48368	0.575	T	0.54289	-0.8316	9	0.72032	D	0.01	.	13.6096	0.62068	0.0:0.8428:0.1572:0.0	.	174	Q9BYR4	KRA43_HUMAN	N	174	ENSP00000375151:S174N	ENSP00000375151:S174N	S	-	2	0	KRTAP4-3	36577430	0.259000	0.24043	0.006000	0.13384	0.005000	0.04900	1.066000	0.30604	1.240000	0.43803	0.655000	0.94253	AGC		0.607	KRTAP4-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257784.1			T	39323904	C	T	39323904	3	4	791	1	0	0	0	0	1	0	0	0	8554	797	28	2	70	2	KRTAP4-3	17	39323904	Missense_Mutation	SNP	C	TCGA-SX-A7SO-01A-11D-A34Z-10	5141201	39323904	41871306	38	47075											
RNF43	54894	hgsc.bcm.edu	37	17	56492851	56492851	+	Missense_Mutation	SNP	G	G	C			TCGA-SX-A7SO-01A-11D-A34Z-10	TCGA-SX-A7SO-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa1c7a5a-c790-4454-a6b9-3e6510dd803a	f0bb345a-2e8b-4af6-8320-fc9be302a5ff	g.chr17:56492851G>C	ENST00000584437.1	-	1	2043	c.88C>G	c.(88-90)Ctg>Gtg	p.L30V	RNF43_ENST00000500597.2_Missense_Mutation_p.L30V|RNF43_ENST00000583753.1_Missense_Mutation_p.L30V|RNF43_ENST00000577716.1_Missense_Mutation_p.L30V|RNF43_ENST00000407977.2_Missense_Mutation_p.L30V|RNF43_ENST00000580014.1_5'Flank|RNF43_ENST00000581868.1_Intron|BZRAP1-AS1_ENST00000583841.1_RNA			Q68DV7	RNF43_HUMAN	ring finger protein 43	30					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)					GCCAGTACCAGTCCTGTGCGT	0.562																																																0													59	55	56					17																	56492851		2203	4300	6503	SO:0001583	missense	54894				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.88C>G	chr17.hg19:g.56492851G>C	ENSP00000463069:p.Leu30Val		A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Missense_Mutation	SNP	ENST00000584437.1	hg19	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	G	16.71	3.197704	0.58126	.	.	ENSG00000108375	ENST00000407977;ENST00000500597	T;T	0.12879	3.01;2.64	5.49	5.49	0.81192	.	0.455866	0.18523	N	0.138716	T	0.11965	0.0291	N	0.14661	0.345	0.38350	D	0.944324	P;P	0.43633	0.675;0.813	B;B	0.41813	0.367;0.202	T	0.18304	-1.0341	10	0.40728	T	0.16	-7.7124	18.7282	0.91722	0.0:0.0:1.0:0.0	.	30;30	Q68DV7-2;Q68DV7	.;RNF43_HUMAN	V	30	ENSP00000385328:L30V;ENSP00000441969:L30V	ENSP00000385328:L30V	L	-	1	2	RNF43	53847850	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.910000	0.75741	2.734000	0.93682	0.655000	0.94253	CTG		0.562	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		C	56492851	G	C	56492851	3	2	791	1	0	0	0	0	1	0	0	0	13501	1020	36	4	2299	4	RNF43	17	56492851	Missense_Mutation	SNP	G	TCGA-SX-A7SO-01A-11D-A34Z-10	17168947	56492851	24702359	39	47076											
TMC6	11322	hgsc.bcm.edu	37	17	76118811	76118811	+	Nonsense_Mutation	SNP	C	C	A			TCGA-SX-A7SO-01A-11D-A34Z-10	TCGA-SX-A7SO-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa1c7a5a-c790-4454-a6b9-3e6510dd803a	f0bb345a-2e8b-4af6-8320-fc9be302a5ff	g.chr17:76118811C>A	ENST00000590602.1	-	10	1261	c.1102G>T	c.(1102-1104)Gag>Tag	p.E368*	TMC6_ENST00000392467.3_Nonsense_Mutation_p.E368*|TMC6_ENST00000591436.1_Nonsense_Mutation_p.E7*|TMC6_ENST00000589553.1_Nonsense_Mutation_p.E141*|TMC6_ENST00000306591.7_Nonsense_Mutation_p.E368*|TMC6_ENST00000592076.1_5'UTR|TMC6_ENST00000322933.4_Nonsense_Mutation_p.E7*|TMC6_ENST00000322914.3_Nonsense_Mutation_p.E368*			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	368					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)			CGGTAGCTCTCCCCGAAAGAG	0.627																																																0													48	44	45					17																	76118811		2200	4300	6500	SO:0001587	stop_gained	11322			AY057379	CCDS32748.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000141524	ENSG00000141524			18021	protein-coding gene	gene with protein product		605828	"epidermodysplasia verruciformis 1"	EVER1		12426567	Standard	NM_007267		Approved	LAK-4P, EVIN1	uc002juk.2	Q7Z403	OTTHUMG00000177466	ENST00000590602.1:c.1102G>T	chr17.hg19:g.76118811C>A	ENSP00000465261:p.Glu368*		O43284|Q45VJ2|Q8IU98|Q8IUI7|Q8IWU8|Q8TEQ7|Q9HAG5	Nonsense_Mutation	SNP	ENST00000590602.1	hg19	CCDS32748.1	.	.	.	.	.	.	.	.	.	.	C	39	7.353198	0.98231	.	.	ENSG00000141524	ENST00000322914;ENST00000392467;ENST00000306591;ENST00000322933	.	.	.	4.0	2.93	0.34026	.	0.611200	0.17763	N	0.162833	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-17.3755	7.2554	0.26173	0.0:0.8057:0.0:0.1943	.	.	.	.	X	368;368;368;7	.	ENSP00000306405:E368X	E	-	1	0	TMC6	73630406	0.975000	0.34042	1.000000	0.80357	0.937000	0.57800	2.464000	0.45067	2.032000	0.59987	0.462000	0.41574	GAG		0.627	TMC6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437146.1			A	76118811	C	A	76118811	4	1	791	1	0	0	0	0	0	1	0	0	15994	864	30	4	1359	4	TMC6	17	76118811	Nonsense_Mutation	SNP	C	TCGA-SX-A7SO-01A-11D-A34Z-10	19625960	76118811	5076399	40	47077											
ABCA7	10347	hgsc.bcm.edu	37	19	1043151	1043151	+	Missense_Mutation	SNP	A	A	C			TCGA-SX-A7SO-01A-11D-A34Z-10	TCGA-SX-A7SO-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa1c7a5a-c790-4454-a6b9-3e6510dd803a	f0bb345a-2e8b-4af6-8320-fc9be302a5ff	g.chr19:1043151A>C	ENST00000263094.6	+	8	922	c.691A>C	c.(691-693)Agc>Cgc	p.S231R	ABCA7_ENST00000433129.1_Missense_Mutation_p.S231R|ABCA7_ENST00000435683.2_Missense_Mutation_p.S93R	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	231					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)		CAGGGGACCTAGCAGCACAGT	0.667																																																0													45	48	47					19																	1043151		2203	4298	6501	SO:0001583	missense	10347			AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"ATP binding cassette transporters / subfamily A"	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.691A>C	chr19.hg19:g.1043151A>C	ENSP00000263094:p.Ser231Arg		Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	hg19	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	A	11.00	1.510090	0.27036	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.86432	-2.12;-2.12	3.57	-0.128	0.13506	.	.	.	.	.	T	0.78515	0.4295	L	0.44542	1.39	0.09310	N	1	B;B	0.11235	0.002;0.004	B;B	0.10450	0.005;0.004	T	0.62779	-0.6782	9	0.38643	T	0.18	.	3.1658	0.06535	0.506:0.2198:0.2742:0.0	.	93;231	Q8IZY2-2;Q8IZY2	.;ABCA7_HUMAN	R	231	ENSP00000263094:S231R;ENSP00000414062:S231R	ENSP00000263094:S231R	S	+	1	0	ABCA7	994151	0.000000	0.05858	0.001000	0.08648	0.055000	0.15305	0.299000	0.19138	-0.191000	0.10448	0.260000	0.18958	AGC		0.667	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		C	1043151	A	C	1043151	3	2	791	1	0	0	0	0	1	0	0	0	37	420	15	5	717	5	ABCA7	19	1043151	Missense_Mutation	SNP	A	TCGA-SX-A7SO-01A-11D-A34Z-10		1043151	58085832	41	47078											
SF4	57794	hgsc.bcm.edu	37	19	19408123	19408123	+	Nonsense_Mutation	SNP	G	G	T			TCGA-SX-A7SO-01A-11D-A34Z-10	TCGA-SX-A7SO-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa1c7a5a-c790-4454-a6b9-3e6510dd803a	f0bb345a-2e8b-4af6-8320-fc9be302a5ff	g.chr19:19408123G>T	ENST00000247001.5	-	8	1265	c.918C>A	c.(916-918)taC>taA	p.Y306*	SUGP1_ENST00000585763.1_5'UTR	NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	306					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						GGTAGTACTTGTACCCTTGGC	0.602																																																0													71	75	74					19																	19408123		2203	4300	6503	SO:0001587	stop_gained	57794			AF521128	CCDS12399.1	19p13	2013-01-28	2010-08-10	2010-08-10		ENSG00000105705		"G patch domain containing"	18643	protein-coding gene	gene with protein product		607992	"splicing factor 4"	SF4		12594045	Standard	NM_172231		Approved	F23858, DKFZp434E2216, RBP	uc002nmh.3	Q8IWZ8		ENST00000247001.5:c.918C>A	chr19.hg19:g.19408123G>T	ENSP00000247001:p.Tyr306*		O60378|Q6P3X9|Q8TCQ4|Q8WWT4|Q8WWT5|Q9NTG3	Nonsense_Mutation	SNP	ENST00000247001.5	hg19	CCDS12399.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.494308	0.85069	.	.	ENSG00000105705	ENST00000247001	.	.	.	3.66	2.62	0.31277	.	0.202787	0.44097	D	0.000496	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.1097	0.25382	0.2133:0.0:0.7867:0.0	.	.	.	.	X	306	.	ENSP00000247001:Y306X	Y	-	3	2	SUGP1	19269123	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.335000	0.43929	2.069000	0.61940	0.491000	0.48974	TAC		0.602	SUGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460128.4	NM_021164		T	19408123	G	T	19408123	4	4	791	1	0	0	0	0	0	1	0	0	14161	1372	48	4	1047	4	SF4	19	19408123	Nonsense_Mutation	SNP	G	TCGA-SX-A7SO-01A-11D-A34Z-10	18364972	19408123	39720860	42	47079											
ZNF681	148213	hgsc.bcm.edu	37	19	23938352	23938352	+	Splice_Site	SNP	T	T	A			TCGA-SX-A7SO-01A-11D-A34Z-10	TCGA-SX-A7SO-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa1c7a5a-c790-4454-a6b9-3e6510dd803a	f0bb345a-2e8b-4af6-8320-fc9be302a5ff	g.chr19:23938352T>A	ENST00000402377.3	-	2	146	c.5A>T	c.(4-6)gAa>gTa	p.E2V	ZNF681_ENST00000395385.3_Intron	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	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)|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)				TTTCAATGGTTCCTGAAAAac	0.393																																																0													42	45	44					19																	23938352		2199	4300	6499	SO:0001630	splice_region_variant	148213			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.4-1A>T	chr19.hg19:g.23938352T>A			B3KVF7	Missense_Mutation	SNP	ENST00000402377.3	hg19	CCDS12414.2	.	.	.	.	.	.	.	.	.	.	.	8.628	0.893033	0.17613	.	.	ENSG00000196172	ENST00000402377	T	0.00856	5.61	1.05	-0.649	0.11461	Krueppel-associated box (1);	.	.	.	.	T	0.01661	0.0053	M	0.72479	2.2	0.09310	N	1	P	0.46859	0.885	P	0.45794	0.493	T	0.40646	-0.9552	9	0.72032	D	0.01	.	3.2374	0.06770	0.0:0.3224:0.0:0.6776	.	2	Q96N22	ZN681_HUMAN	V	2	ENSP00000384000:E2V	ENSP00000384000:E2V	E	-	2	0	ZNF681	23730192	0.035000	0.19736	0.035000	0.18076	0.035000	0.12851	-0.294000	0.08309	-0.466000	0.06943	-0.467000	0.05162	GAA		0.393	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320248.2	NM_138286	Missense_Mutation	A	23938352	T	A	23938352	5	1	791	1	0	0	0	0	0	0	1	0	18093	1797	62	5	1944	5	ZNF681	19	23938352	Splice_Site	SNP	T	TCGA-SX-A7SO-01A-11D-A34Z-10	4530229	23938352	35190631	43	47080											
C19orf2	8725	hgsc.bcm.edu	37	19	30505796	30505796	+	Frame_Shift_Del	DEL	T	T	-			TCGA-SX-A7SO-01A-11D-A34Z-10	TCGA-SX-A7SO-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa1c7a5a-c790-4454-a6b9-3e6510dd803a	f0bb345a-2e8b-4af6-8320-fc9be302a5ff	g.chr19:30505796delT	ENST00000542441.2	+	11	1725	c.1428delT	c.(1426-1428)gctfs	p.A476fs	URI1_ENST00000392271.1_Frame_Shift_Del_p.A400fs|URI1_ENST00000312051.6_Frame_Shift_Del_p.A436fs|URI1_ENST00000360605.4_Intron			O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	476					cellular response to growth factor stimulus (GO:0071363)|cellular response to steroid hormone stimulus (GO:0071383)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of phosphatase activity (GO:0010923)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)|regulation of cell growth (GO:0001558)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to virus (GO:0009615)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, core complex (GO:0005665)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	chromatin binding (GO:0003682)|protein phosphatase inhibitor activity (GO:0004864)|RNA polymerase II transcription corepressor activity (GO:0001106)										TTTTCTAGGCTTTTTCTGGAA	0.378																																																0													96	104	102					19																	30505796		2203	4299	6502	SO:0001589	frameshift_variant	8725			AF091095	CCDS12420.1, CCDS58658.1	19q12	2012-04-17	2011-11-21	2011-11-21	ENSG00000105176	ENSG00000105176		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	13236	protein-coding gene	gene with protein product	"unconventional prefoldin RPB5 interactor", "RPB5-mediating protein", "protein phosphatase 1, regulatory subunit 19"	603494	"chromosome 19 open reading frame 2"	C19orf2		9878255, 9819440	Standard	NM_003796		Approved	RMP, NNX3, FLJ10575, URI, PPP1R19	uc002nsr.3	O94763		ENST00000542441.2:c.1428delT	chr19.hg19:g.30505796delT	ENSP00000442436:p.Ala476fs		A8K805|H7BY42|Q8TC23|Q9UNU3	Frame_Shift_Del	DEL	ENST00000542441.2	hg19	CCDS12420.1																																																																																				0.378	URI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439756.1	NM_134447		-	30505796	T	-	30505796	7	5	791	1	0	1	0	1	0	0	0	0	1913	1596	56	0	1470	0	C19orf2	19	30505796	Frame_Shift_Del	DEL	T	TCGA-SX-A7SO-01A-11D-A34Z-10	6567444	30505796	28623187	44	47081											
TMC2	117532	hgsc.bcm.edu	37	20	2517943	2517943	+	Silent	SNP	G	G	A			TCGA-SX-A7SO-01A-11D-A34Z-10	TCGA-SX-A7SO-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa1c7a5a-c790-4454-a6b9-3e6510dd803a	f0bb345a-2e8b-4af6-8320-fc9be302a5ff	g.chr20:2517943G>A	ENST00000358864.1	+	2	78	c.63G>A	c.(61-63)aaG>aaA	p.K21K		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	21	Arg/Asp/Glu/Lys-rich (highly charged).				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						GGCGGGTGAAGAGCGGCTCTC	0.632																																																0													57	49	51					20																	2517943		2201	4299	6500	SO:0001819	synonymous_variant	117532			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.63G>A	chr20.hg19:g.2517943G>A			Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Silent	SNP	ENST00000358864.1	hg19	CCDS13029.2																																																																																				0.632	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2			A	2517943	G	A	2517943	2	1	791	1	0	0	0	0	0	0	0	1	15990	933	33	2		2	TMC2	20	2517943	Silent	SNP	G	TCGA-SX-A7SO-01A-11D-A34Z-10		2517943	60507577	45	47082											
RIPK4	54101	hgsc.bcm.edu	37	21	43176962	43176962	+	Missense_Mutation	SNP	A	A	G			TCGA-SX-A7SO-01A-11D-A34Z-10	TCGA-SX-A7SO-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa1c7a5a-c790-4454-a6b9-3e6510dd803a	f0bb345a-2e8b-4af6-8320-fc9be302a5ff	g.chr21:43176962A>G	ENST00000352483.2	-	2	261	c.197T>C	c.(196-198)cTt>cCt	p.L66P	RIPK4_ENST00000332512.3_Missense_Mutation_p.L66P|RIPK4_ENST00000542057.1_Missense_Mutation_p.L3P|RIPK4_ENST00000544709.1_Missense_Mutation_p.L3P			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	66	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TTCTTCCAAAAGCTCCATGCG	0.522																																																0													62	60	60					21																	43176962		2203	4300	6503	SO:0001583	missense	54101			AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"Ankyrin repeat domain containing"	496	protein-coding gene	gene with protein product	"protein kinase C-associated kinase", "PKC-delta-interacting protein kinase"	605706	"ankyrin repeat domain 3"	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.197T>C	chr21.hg19:g.43176962A>G	ENSP00000330161:p.Leu66Pro		Q96KH0	Missense_Mutation	SNP	ENST00000352483.2	hg19		.	.	.	.	.	.	.	.	.	.	A	21.1	4.094643	0.76870	.	.	ENSG00000183421	ENST00000332512;ENST00000352483;ENST00000544709;ENST00000542057	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	4.97	4.97	0.65823	.	0.000000	0.47852	D	0.000202	T	0.80099	0.4561	M	0.82716	2.605	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83560	0.0106	10	0.87932	D	0	-18.798	14.1208	0.65186	1.0:0.0:0.0:0.0	.	66	P57078-2	.	P	66;66;3;3	ENSP00000332454:L66P;ENSP00000330161:L66P;ENSP00000441754:L3P;ENSP00000442901:L3P	ENSP00000332454:L66P	L	-	2	0	RIPK4	42050031	1.000000	0.71417	0.913000	0.36048	0.980000	0.70556	9.040000	0.93783	1.995000	0.58328	0.460000	0.39030	CTT		0.522	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639		G	43176962	A	G	43176962	3	3	791	1	0	0	0	0	1	0	0	0	13389	72	3	3	2185	3	RIPK4	21	43176962	Missense_Mutation	SNP	A	TCGA-SX-A7SO-01A-11D-A34Z-10		43176962	4952933	46	47083											
PLA2G6	8398	hgsc.bcm.edu	37	22	38565425	38565425	+	Missense_Mutation	SNP	G	G	T			TCGA-SX-A7SO-01A-11D-A34Z-10	TCGA-SX-A7SO-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa1c7a5a-c790-4454-a6b9-3e6510dd803a	f0bb345a-2e8b-4af6-8320-fc9be302a5ff	g.chr22:38565425G>T	ENST00000332509.3	-	2	192	c.9C>A	c.(7-9)ttC>ttA	p.F3L	PLA2G6_ENST00000402064.1_Missense_Mutation_p.F3L|PLA2G6_ENST00000335539.3_Missense_Mutation_p.F3L|PLA2G6_ENST00000435484.1_Missense_Mutation_p.F3L|PLA2G6_ENST00000436218.1_Missense_Mutation_p.F3L|PLA2G6_ENST00000447598.2_Missense_Mutation_p.F3L|PLA2G6_ENST00000417303.2_Missense_Mutation_p.F3L	NM_003560.2	NP_003551.2	O60733	PLPL9_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	3					cardiolipin acyl-chain remodeling (GO:0035965)|cardiolipin biosynthetic process (GO:0032049)|cell death (GO:0008219)|chemotaxis (GO:0006935)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of exocytosis (GO:0045921)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of vasodilation (GO:0045909)|regulation of store-operated calcium channel activity (GO:1901339)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|urinary bladder smooth muscle contraction (GO:0014832)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipase A2 activity (GO:0004623)			breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	GGCGGCCAAAGAACTGCATCT	0.597																																																0													65	52	57					22																	38565425		2203	4300	6503	SO:0001583	missense	8398			AF064594	CCDS13967.1, CCDS33645.1	22q13.1	2013-01-10			ENSG00000184381	ENSG00000184381	3.1.1.4	"Patatin-like phospholipase domain containing", "Parkinson disease", "Ankyrin repeat domain containing"	9039	protein-coding gene	gene with protein product	"neurodegeneration with brain iron accumulation 2"	603604				9417066, 16799181, 19029121	Standard	NM_001199562		Approved	iPLA2, PNPLA9, PARK14, iPLA2beta, NBIA2	uc003aux.1	O60733	OTTHUMG00000151246	ENST00000332509.3:c.9C>A	chr22.hg19:g.38565425G>T	ENSP00000333142:p.Phe3Leu		A8K597|B0QYE8|O75645|Q8N452|Q9UG29|Q9UIT0|Q9Y671	Missense_Mutation	SNP	ENST00000332509.3	hg19	CCDS13967.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.116009	0.77323	.	.	ENSG00000184381	ENST00000332509;ENST00000419848;ENST00000335539;ENST00000402064;ENST00000335538;ENST00000396860;ENST00000451461;ENST00000430886;ENST00000455341	T;T;T;T;T	0.76448	0.03;0.11;0.11;1.12;-1.02	4.63	3.61	0.41365	.	0.050453	0.85682	D	0.000000	T	0.76535	0.4001	N	0.19112	0.55	0.26351	N	0.977208	B;P;B	0.52577	0.048;0.954;0.09	B;D;B	0.66351	0.039;0.943;0.063	T	0.67256	-0.5716	10	0.45353	T	0.12	-21.5614	9.9606	0.41693	0.0976:0.0:0.9024:0.0	.	3;3;3	B7Z6K3;O60733-2;O60733	.;.;PA2G6_HUMAN	L	3	ENSP00000333142:F3L;ENSP00000335149:F3L;ENSP00000386100:F3L;ENSP00000395464:F3L;ENSP00000393761:F3L	ENSP00000333142:F3L	F	-	3	2	PLA2G6	36895371	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.538000	0.36094	0.953000	0.37825	0.555000	0.69702	TTC		0.597	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321860.1	NM_001004426		T	38565425	G	T	38565425	3	4	791	1	0	0	0	0	1	0	0	0	12010	933	33	4	2475	4	PLA2G6	22	38565425	Missense_Mutation	SNP	G	TCGA-SX-A7SO-01A-11D-A34Z-10		38565425	12739141	47	47084											
UBR4	23352	hgsc.bcm.edu	37	1	19526243	19526243	+	Missense_Mutation	SNP	G	G	C			TCGA-SX-A7SP-01A-11D-A34Z-10	TCGA-SX-A7SP-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6abb591-8bba-4022-b736-659828bb3947	68027171-3c57-48ce-b796-f96345b1c177	g.chr1:19526243G>C	ENST00000375254.3	-	3	307	c.280C>G	c.(280-282)Cgg>Ggg	p.R94G	UBR4_ENST00000375226.2_Missense_Mutation_p.R94G|UBR4_ENST00000375267.2_Missense_Mutation_p.R94G|UBR4_ENST00000375217.2_Missense_Mutation_p.R94G	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	94					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)		AGTTGGTTCCGGGGAACTGAG	0.438																																																0													58	62	61					1																	19526243		2203	4300	6503	SO:0001583	missense	23352			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.280C>G	chr1.hg19:g.19526243G>C	ENSP00000364403:p.Arg94Gly		A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	hg19	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.490277	0.64074	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226	T;T;T;T	0.23147	1.92;1.92;1.92;1.92	5.45	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.33294	0.0858	N	0.22421	0.69	0.80722	D	1	D	0.60160	0.987	D	0.65010	0.931	T	0.10064	-1.0646	10	0.54805	T	0.06	.	12.1758	0.54184	0.0:0.0:0.5839:0.4161	.	94	Q5T4S7	UBR4_HUMAN	G	94	ENSP00000364403:R94G;ENSP00000364416:R94G;ENSP00000364365:R94G;ENSP00000364374:R94G	ENSP00000364365:R94G	R	-	1	2	UBR4	19398830	1.000000	0.71417	0.998000	0.56505	0.932000	0.56968	4.442000	0.59988	1.407000	0.46875	-0.188000	0.12872	CGG		0.438	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		C	19526243	G	C	19526243	3	2	792	1	0	0	0	0	1	0	0	0	16909	1115	39	4	15687	4	UBR4	1	19526243	Missense_Mutation	SNP	G	TCGA-SX-A7SP-01A-11D-A34Z-10		19526243	229724378	1	47085											
MATN1	4146	hgsc.bcm.edu	37	1	31191691	31191691	+	Silent	SNP	C	C	T			TCGA-SX-A7SP-01A-11D-A34Z-10	TCGA-SX-A7SP-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6abb591-8bba-4022-b736-659828bb3947	68027171-3c57-48ce-b796-f96345b1c177	g.chr1:31191691C>T	ENST00000373765.4	-	3	590	c.555G>A	c.(553-555)aaG>aaA	p.K185K	MATN1-AS1_ENST00000414532.2_RNA|MATN1-AS1_ENST00000454613.1_RNA|MATN1_ENST00000477320.1_5'UTR|MATN1-AS1_ENST00000414763.1_RNA	NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein	185	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|growth plate cartilage chondrocyte morphogenesis (GO:0003429)|protein complex assembly (GO:0006461)|regulation of bone mineralization (GO:0030500)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGCGTGGCCTTGTCCACGC	0.667																																																0													30	28	29					1																	31191691		2201	4300	6501	SO:0001819	synonymous_variant	4146			M55675	CCDS336.1	1p35	2008-02-05			ENSG00000162510	ENSG00000162510			6907	protein-coding gene	gene with protein product		115437		CRTM, CMP		2246248, 9083061	Standard	NM_002379		Approved		uc001brz.3	P21941	OTTHUMG00000003705	ENST00000373765.4:c.555G>A	chr1.hg19:g.31191691C>T			B2R7E3|Q5TBB9	Silent	SNP	ENST00000373765.4	hg19	CCDS336.1																																																																																				0.667	MATN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010458.1	NM_002379		T	31191691	C	T	31191691	2	4	792	1	0	0	0	0	0	0	0	1	9335	680	24	2		2	MATN1	1	31191691	Silent	SNP	C	TCGA-SX-A7SP-01A-11D-A34Z-10	11665448	31191691	218058930	2	47086											
AK3L1	205	hgsc.bcm.edu	37	1	65690462	65690463	+	In_Frame_Ins	INS	-	-	TAG			TCGA-SX-A7SP-01A-11D-A34Z-10	TCGA-SX-A7SP-10A-01D-A34Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6abb591-8bba-4022-b736-659828bb3947	68027171-3c57-48ce-b796-f96345b1c177	g.chr1:65690462_65690463insTAG	ENST00000327299.7	+	4	671_672	c.466_467insTAG	c.(466-468)tta>tTAGta	p.157_158insV	AK4_ENST00000545314.1_In_Frame_Ins_p.157_158insV|AK4_ENST00000546702.1_In_Frame_Ins_p.105_106insV|AK4_ENST00000470888.2_3'UTR|AK4_ENST00000395334.2_In_Frame_Ins_p.157_158insV	NM_013410.3	NP_037542.1			adenylate kinase 4											breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	9						TGGTGAACCGTTAGTCCAGCAG	0.421																																																0																																										SO:0001652	inframe_insertion	205			AK025926	CCDS629.1	1p31.3	2012-10-02	2010-06-15	2010-06-15	ENSG00000162433	ENSG00000162433	2.7.4.3	"Adenylate kinases"	363	protein-coding gene	gene with protein product		103030	"adenylate kinase 3", "adenylate kinase 3-like 1"	AK3, AK3L1		11485571	Standard	NM_203464		Approved		uc001dby.3	P27144	OTTHUMG00000009033	ENST00000327299.7:c.467_469dupTAG	chr1.hg19:g.65690463_65690465dupTAG	ENSP00000322175:p.Val157_Val157dup			In_Frame_Ins	INS	ENST00000327299.7	hg19	CCDS629.1																																																																																				0.421	AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025040.2	NM_013410		TAG	65690463	-	TAG	65690462	7	5	792	1	0	1	1	0	0	0	0	0	442	1722	60	0	480	0	AK3L1	1	65690462	In_Frame_Ins	INS	-	TCGA-SX-A7SP-01A-11D-A34Z-10	34498771	65690462	183560159	3	47087											
ZNF326	284695	hgsc.bcm.edu	37	1	90493075	90493075	+	Frame_Shift_Del	DEL	G	G	-			TCGA-SX-A7SP-01A-11D-A34Z-10	TCGA-SX-A7SP-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6abb591-8bba-4022-b736-659828bb3947	68027171-3c57-48ce-b796-f96345b1c177	g.chr1:90493075delG	ENST00000340281.4	+	12	1707	c.1564delG	c.(1564-1566)gagfs	p.E523fs	ZNF326_ENST00000370447.3_Frame_Shift_Del_p.E434fs|ZNF326_ENST00000455342.2_Frame_Shift_Del_p.E317fs	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	523	Glu-rich.				mRNA processing (GO:0006397)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, elongation (GO:0032784)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	DBIRD complex (GO:0044609)|nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		ggaagaagtagaggaagtgag	0.498																																																0													70	64	66					1																	90493075		2203	4300	6503	SO:0001589	frameshift_variant	284695			BC013102	CCDS727.1, CCDS728.1	1p22	2012-04-19			ENSG00000162664	ENSG00000162664		"Zinc fingers, C2H2-type"	14104	protein-coding gene	gene with protein product	"ZNF-protein interacting with nuclear mRNPs and DBC1"	614601				22446626	Standard	NM_182976		Approved	Zfp326, ZAN75, FLJ20403, ZIRD	uc001dnq.2	Q5BKZ1	OTTHUMG00000010675	ENST00000340281.4:c.1564delG	chr1.hg19:g.90493075delG	ENSP00000340796:p.Glu523fs		A8MYX1|B4DLN0|B4E179|Q5VW93|Q5VW94|Q5VW96|Q5VW97|Q6NSA2|Q7Z638|Q7Z6C2	Frame_Shift_Del	DEL	ENST00000340281.4	hg19	CCDS727.1																																																																																				0.498	ZNF326-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029428.2	NM_181781		-	90493075	G	-	90493075	7	5	792	1	0	1	0	1	0	0	0	0	17851	943	33	0	1614	0	ZNF326	1	90493075	Frame_Shift_Del	DEL	G	TCGA-SX-A7SP-01A-11D-A34Z-10	24802613	90493075	158757546	4	47088											
DNTTIP2	30836	hgsc.bcm.edu	37	1	94341933	94341933	+	Missense_Mutation	SNP	T	T	C			TCGA-SX-A7SP-01A-11D-A34Z-10	TCGA-SX-A7SP-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6abb591-8bba-4022-b736-659828bb3947	68027171-3c57-48ce-b796-f96345b1c177	g.chr1:94341933T>C	ENST00000436063.2	-	2	1615	c.1558A>G	c.(1558-1560)Aaa>Gaa	p.K520E	DNTTIP2_ENST00000460191.1_5'UTR	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	520					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		tcctcttctttttcttcctcA	0.368																																																0													123	106	111					1																	94341933		1860	4081	5941	SO:0001583	missense	30836			AY394925	CCDS44174.1	1p22.1	2008-02-05			ENSG00000067334	ENSG00000067334			24013	protein-coding gene	gene with protein product	"acidic 82 kDa protein mRNA"	611199				15047147	Standard	NM_014597		Approved	HSU15552, ERBP, TdIF2	uc001dqf.3	Q5QJE6	OTTHUMG00000010268	ENST00000436063.2:c.1558A>G	chr1.hg19:g.94341933T>C	ENSP00000411010:p.Lys520Glu		Q12987|Q53H59|Q5TFJ4|Q6TLI0|Q76MJ8|Q86WX9	Missense_Mutation	SNP	ENST00000436063.2	hg19	CCDS44174.1	.	.	.	.	.	.	.	.	.	.	T	2.748	-0.260753	0.05791	.	.	ENSG00000067334	ENST00000436063	T	0.13538	2.58	4.78	-1.49	0.08718	.	0.927580	0.09139	N	0.843213	T	0.01189	0.0039	N	0.08118	0	0.18873	N	0.999989	B	0.06786	0.001	B	0.04013	0.001	T	0.47812	-0.9088	10	0.02654	T	1	.	6.8859	0.24199	0.0:0.2787:0.1252:0.5962	.	520	Q5QJE6	TDIF2_HUMAN	E	520	ENSP00000411010:K520E	ENSP00000352137:K520E	K	-	1	0	DNTTIP2	94114521	0.000000	0.05858	0.479000	0.27329	0.916000	0.54674	-0.269000	0.08596	-0.127000	0.11661	0.496000	0.49642	AAA		0.368	DNTTIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028317.2	NM_014597		C	94341933	T	C	94341933	3	2	792	1	0	0	0	0	1	0	0	0	4684	1850	64	3	736	3	DNTTIP2	1	94341933	Missense_Mutation	SNP	T	TCGA-SX-A7SP-01A-11D-A34Z-10	3848858	94341933	154908688	5	47089											
CEP170	9859	hgsc.bcm.edu	37	1	243319673	243319675	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-SX-A7SP-01A-11D-A34Z-10	TCGA-SX-A7SP-10A-01D-A34Z-10	TGT	TGT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6abb591-8bba-4022-b736-659828bb3947	68027171-3c57-48ce-b796-f96345b1c177	g.chr1:243319673_243319675delTGT	ENST00000366542.1	-	14	3810_3812	c.3759_3761delACA	c.(3757-3762)aaacat>aat	p.1253_1254KH>N	CEP170_ENST00000366543.1_Intron|CEP170_ENST00000490813.1_Intron|CEP170_ENST00000481987.1_5'UTR|CEP170_ENST00000366544.1_In_Frame_Del_p.1155_1156KH>N	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1253	Targeting to centrosomes.|Targeting to microtubules.					centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TAGACGGGTATGTTTAGGGGAAT	0.419																																																0																																										SO:0001651	inframe_deletion	9859			AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"KARP 1 binding protein", "XRCC5 binding protein"	613023	"KIAA0470"	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.3759_3761delACA	chr1.hg19:g.243319673_243319675delTGT	ENSP00000355500:p.Lys1253_His1254delinsAsn		O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	In_Frame_Del	DEL	ENST00000366542.1	hg19	CCDS44339.1																																																																																				0.419	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812		-	243319675	TGT	-	243319673	7	5	792	1	0	1	0	1	0	0	0	0	3252	1464	51	0	1051	0	CEP170	1	243319673	In_Frame_Del	DEL	TGT	TCGA-SX-A7SP-01A-11D-A34Z-10	148977740	243319673	5930948	6	47090											
PDCL3	79031	hgsc.bcm.edu	37	2	101183077	101183077	+	Missense_Mutation	SNP	T	T	C			TCGA-SX-A7SP-01A-11D-A34Z-10	TCGA-SX-A7SP-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6abb591-8bba-4022-b736-659828bb3947	68027171-3c57-48ce-b796-f96345b1c177	g.chr2:101183077T>C	ENST00000264254.6	+	2	497	c.119T>C	c.(118-120)cTc>cCc	p.L40P		NM_024065.4	NP_076970.1	Q9H2J4	PDCL3_HUMAN	phosducin-like 3	40					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|protein folding (GO:0006457)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|viral process (GO:0016032)	cytoplasm (GO:0005737)	protein binding involved in protein folding (GO:0044183)			endometrium(3)|large_intestine(2)|liver(1)|lung(6)	12						CAGCGCATCCTCCAGCAGTCA	0.532																																																0													64	63	63					2																	101183077		2203	4300	6503	SO:0001583	missense	79031			AF267853	CCDS33261.1	2q12	2008-02-05			ENSG00000115539	ENSG00000115539			28860	protein-coding gene	gene with protein product		611678					Standard	NM_024065		Approved	VIAF1	uc002tao.2	Q9H2J4	OTTHUMG00000153141	ENST00000264254.6:c.119T>C	chr2.hg19:g.101183077T>C	ENSP00000264254:p.Leu40Pro		B2RA00|Q53S68	Missense_Mutation	SNP	ENST00000264254.6	hg19	CCDS33261.1	.	.	.	.	.	.	.	.	.	.	.	9.683	1.149916	0.21371	.	.	ENSG00000115539	ENST00000264254	T	0.41758	0.99	4.61	4.61	0.57282	Thioredoxin-like fold (1);Phosducin, thioredoxin-like domain (1);	0.302798	0.29066	N	0.013248	T	0.33789	0.0875	L	0.37750	1.13	0.58432	D	0.999999	B	0.06786	0.001	B	0.09377	0.004	T	0.09122	-1.0689	10	0.30854	T	0.27	-27.9473	14.0053	0.64459	0.0:0.0:0.0:1.0	.	40	Q9H2J4	PDCL3_HUMAN	P	40	ENSP00000264254:L40P	ENSP00000264254:L40P	L	+	2	0	PDCL3	100549509	0.214000	0.23563	0.845000	0.33349	0.207000	0.24258	1.019000	0.30014	1.728000	0.51552	0.363000	0.22086	CTC		0.532	PDCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329734.1	NM_024065		C	101183077	T	C	101183077	3	2	792	1	0	0	0	0	1	0	0	0	11630	1551	54	3	125	3	PDCL3	2	101183077	Missense_Mutation	SNP	T	TCGA-SX-A7SP-01A-11D-A34Z-10		101183077	142016296	7	47091											
DYTN	391475	hgsc.bcm.edu	37	2	207527877	207527877	+	Missense_Mutation	SNP	G	G	C			TCGA-SX-A7SP-01A-11D-A34Z-10	TCGA-SX-A7SP-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6abb591-8bba-4022-b736-659828bb3947	68027171-3c57-48ce-b796-f96345b1c177	g.chr2:207527877G>C	ENST00000452335.2	-	11	1499	c.1383C>G	c.(1381-1383)caC>caG	p.H461Q		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	461						plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		CCCTGGTGCTGTGCAAAGTGG	0.483																																																0													180	171	174					2																	207527877		2039	4193	6232	SO:0001583	missense	391475			ABF55377	CCDS46502.1	2q33.3	2007-01-22			ENSG00000232125	ENSG00000232125			23279	protein-coding gene	gene with protein product						17233888	Standard	NM_001093730		Approved		uc002vbr.1	A2CJ06	OTTHUMG00000154729	ENST00000452335.2:c.1383C>G	chr2.hg19:g.207527877G>C	ENSP00000396593:p.His461Gln			Missense_Mutation	SNP	ENST00000452335.2	hg19	CCDS46502.1	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.544248	0.00934	.	.	ENSG00000232125	ENST00000452335	T	0.08193	3.12	5.12	0.0828	0.14430	.	.	.	.	.	T	0.02380	0.0073	N	0.02916	-0.46	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45687	-0.9244	9	0.02654	T	1	-1.1026	4.4038	0.11399	0.0:0.2781:0.2036:0.5183	.	461	A2CJ06	DYTN_HUMAN	Q	461	ENSP00000396593:H461Q	ENSP00000396593:H461Q	H	-	3	2	DYTN	207236122	0.151000	0.22747	0.057000	0.19452	0.036000	0.12997	0.011000	0.13264	0.126000	0.18424	-0.284000	0.09977	CAC		0.483	DYTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336799.1			C	207527877	G	C	207527877	3	2	792	1	0	0	0	0	1	0	0	0	4863	1368	48	4	361	4	DYTN	2	207527877	Missense_Mutation	SNP	G	TCGA-SX-A7SP-01A-11D-A34Z-10	106344800	207527877	35671496	8	47092											
RPL37A	6168	hgsc.bcm.edu	37	2	217364702	217364709	+	Frame_Shift_Del	DEL	TGGCACTG	TGGCACTG	-			TCGA-SX-A7SP-01A-11D-A34Z-10	TCGA-SX-A7SP-10A-01D-A34Z-10	TGGCACTG	TGGCACTG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6abb591-8bba-4022-b736-659828bb3947	68027171-3c57-48ce-b796-f96345b1c177	g.chr2:217364702_217364709delTGGCACTG	ENST00000491306.1	+	3	849_856	c.163_170delTGGCACTG	c.(163-171)tggcactgtfs	p.WHC55fs	RPL37A_ENST00000427280.2_Frame_Shift_Del_p.WHC31fs|RPL37A_ENST00000600880.1_Frame_Shift_Del_p.WHC55fs|AC098820.3_ENST00000453157.1_RNA|RPL37A_ENST00000456586.1_Frame_Shift_Del_p.WHC31fs|AC098820.3_ENST00000438978.1_RNA|RPL37A_ENST00000441179.2_Frame_Shift_Del_p.WHC31fs|RPL37A_ENST00000446558.1_Frame_Shift_Del_p.WHC55fs|RPL37A_ENST00000598925.1_Frame_Shift_Del_p.WHC31fs	NM_000998.4	NP_000989.1	P61513	RL37A_HUMAN	ribosomal protein L37a	55					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)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.H56H(1)		NS(1)|ovary(1)	2		Renal(323;0.0458)		Epithelial(149;3.51e-06)|all cancers(144;0.000249)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGTGGGGATCTGGCACTGTGGTTCCTGC	0.452																																																1	Substitution - coding silent(1)	ovary(1)																																								SO:0001589	frameshift_variant	6168				CCDS2404.1	2q35	2011-04-06			ENSG00000197756	ENSG00000197756		"L ribosomal proteins"	10348	protein-coding gene	gene with protein product		613314				1437567	Standard	NM_000998		Approved	L37A	uc002vgf.3	P61513	OTTHUMG00000133052	ENST00000491306.1:c.163_170delTGGCACTG	chr2.hg19:g.217364702_217364709delTGGCACTG	ENSP00000418082:p.Trp55fs		P12751|Q6FGF5	Frame_Shift_Del	DEL	ENST00000491306.1	hg19	CCDS2404.1																																																																																				0.452	RPL37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256665.2	NM_000998		-	217364709	TGGCACTG	-	217364702	7	5	792	1	0	1	0	1	0	0	0	0	13596	1580	55	0	173	0	RPL37A	2	217364702	Frame_Shift_Del	DEL	TGGCACTG	TCGA-SX-A7SP-01A-11D-A34Z-10	9836825	217364702	25834671	9	47093											
TNS1	7145	hgsc.bcm.edu	37	2	218712647	218712647	+	Missense_Mutation	SNP	C	C	G			TCGA-SX-A7SP-01A-11D-A34Z-10	TCGA-SX-A7SP-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6abb591-8bba-4022-b736-659828bb3947	68027171-3c57-48ce-b796-f96345b1c177	g.chr2:218712647C>G	ENST00000171887.4	-	17	2670	c.2218G>C	c.(2218-2220)Ggg>Cgg	p.G740R	TNS1_ENST00000480665.1_5'Flank|TNS1_ENST00000430930.1_Missense_Mutation_p.G740R|TNS1_ENST00000419504.1_Missense_Mutation_p.G740R	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	740					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GGAGAAGCCCCTGGCCAGGCC	0.607																																																0													18	22	21					2																	218712647		2203	4300	6503	SO:0001583	missense	7145			AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	11973	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 155"	600076	"tensin", "matrix-remodelling associated 6"	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.2218G>C	chr2.hg19:g.218712647C>G	ENSP00000171887:p.Gly740Arg		Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	hg19	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.567344	0.45694	.	.	ENSG00000079308	ENST00000171887;ENST00000419504;ENST00000430930	D;D;D	0.91237	-2.79;-2.81;-2.8	4.45	4.45	0.53987	.	0.733784	0.13287	N	0.399289	D	0.84174	0.5414	N	0.19112	0.55	0.80722	D	1	B;D;P;P;P	0.56035	0.244;0.974;0.93;0.868;0.93	B;P;B;B;P	0.45913	0.07;0.497;0.36;0.383;0.462	T	0.80063	-0.1539	10	0.29301	T	0.29	.	9.3101	0.37898	0.0:0.7696:0.1478:0.0825	.	740;794;740;740;740	B2RU35;A1L0S7;Q9HBL0;E9PGF5;E9PF55	.;.;TENS1_HUMAN;.;.	R	740	ENSP00000171887:G740R;ENSP00000408724:G740R;ENSP00000406016:G740R	ENSP00000171887:G740R	G	-	1	0	TNS1	218420892	1.000000	0.71417	0.986000	0.45419	0.907000	0.53573	2.690000	0.47001	2.310000	0.77875	0.462000	0.41574	GGG		0.607	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		G	218712647	C	G	218712647	3	3	792	1	0	0	0	0	1	0	0	0	16348	681	24	4	3057	4	TNS1	2	218712647	Missense_Mutation	SNP	C	TCGA-SX-A7SP-01A-11D-A34Z-10	1347945	218712647	24486726	10	47094											
WNT7A	7476	hgsc.bcm.edu	37	3	13860881	13860881	+	Missense_Mutation	SNP	C	C	T	rs387907231		TCGA-SX-A7SP-01A-11D-A34Z-10	TCGA-SX-A7SP-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6abb591-8bba-4022-b736-659828bb3947	68027171-3c57-48ce-b796-f96345b1c177	g.chr3:13860881C>T	ENST00000285018.4	-	4	914	c.610G>A	c.(610-612)Ggc>Agc	p.G204S		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	204					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						CCTGACACGCCGTGGCACTTA	0.602																																																0													109	100	103					3																	13860881		2203	4300	6503	SO:0001583	missense	7476			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.610G>A	chr3.hg19:g.13860881C>T	ENSP00000285018:p.Gly204Ser		Q96H90|Q9Y560	Missense_Mutation	SNP	ENST00000285018.4	hg19	CCDS2616.1	.	.	.	.	.	.	.	.	.	.	c	19.41	3.822077	0.71028	.	.	ENSG00000154764	ENST00000285018	D	0.83837	-1.77	4.29	4.29	0.51040	Secreted growth factor Wnt protein, conserved site (1);	0.101745	0.64402	D	0.000003	D	0.94732	0.8300	H	0.98542	4.26	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.97237	0.9888	10	0.87932	D	0	.	17.1402	0.86750	0.0:1.0:0.0:0.0	.	204	O00755	WNT7A_HUMAN	S	204	ENSP00000285018:G204S	ENSP00000285018:G204S	G	-	1	0	WNT7A	13835882	1.000000	0.71417	0.819000	0.32651	0.253000	0.25986	7.810000	0.86072	2.121000	0.65114	0.558000	0.71614	GGC		0.602	WNT7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252031.2	NM_004625		T	13860881	C	T	13860881	3	4	792	1	0	0	0	0	1	0	0	0	17399	652	23	1	443	1	WNT7A	3	13860881	Missense_Mutation	SNP	C	TCGA-SX-A7SP-01A-11D-A34Z-10		13860881	184161549	11	47095											
ARIH2	10425	hgsc.bcm.edu	37	3	49005966	49005966	+	Splice_Site	SNP	G	G	T			TCGA-SX-A7SP-01A-11D-A34Z-10	TCGA-SX-A7SP-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6abb591-8bba-4022-b736-659828bb3947	68027171-3c57-48ce-b796-f96345b1c177	g.chr3:49005966G>T	ENST00000356401.4	+	7	877		c.e7-1		ARIH2_ENST00000449376.1_Splice_Site|ARIH2_ENST00000490095.1_Splice_Site	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN	ariadne RBR E3 ubiquitin protein ligase 2						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)		TTGTTCAACAGGAGTCTCTTG	0.517																																																0													129	119	122					3																	49005966		2203	4300	6503	SO:0001630	splice_region_variant	10425			AF099149	CCDS2780.1	3p21	2013-10-03	2013-10-03		ENSG00000177479	ENSG00000177479			690	protein-coding gene	gene with protein product	"all-trans retinoic acid inducible RING finger"	605615	"ariadne (Drosophila) homolog 2", "ariadne homolog 2 (Drosophila)"			10422847, 24058416	Standard	XM_005264798		Approved	TRIAD1	uc003cvb.3	O95376	OTTHUMG00000133547	ENST00000356401.4:c.539-1G>T	chr3.hg19:g.49005966G>T			Q9HBZ6|Q9UEM9	Splice_Site	SNP	ENST00000356401.4	hg19	CCDS2780.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.470290	0.84533	.	.	ENSG00000177479	ENST00000356401;ENST00000449376;ENST00000444790;ENST00000395481	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1346	0.98019	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARIH2	48980970	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.444000	0.97578	2.765000	0.95021	0.655000	0.94253	.		0.517	ARIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257525.1	NM_006321	Intron	T	49005966	G	T	49005966	5	4	792	1	0	0	0	0	0	0	1	0	924	1014	35	4	556	4	ARIH2	3	49005966	Splice_Site	SNP	G	TCGA-SX-A7SP-01A-11D-A34Z-10	35145085	49005966	149016464	12	47096											
TMF1	7110	hgsc.bcm.edu	37	3	69092928	69092928	+	Silent	SNP	G	G	A			TCGA-SX-A7SP-01A-11D-A34Z-10	TCGA-SX-A7SP-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6abb591-8bba-4022-b736-659828bb3947	68027171-3c57-48ce-b796-f96345b1c177	g.chr3:69092928G>A	ENST00000398559.2	-	4	1767	c.1551C>T	c.(1549-1551)gcC>gcT	p.A517A	CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|TMF1_ENST00000543976.1_Silent_p.A520A			P82094	TMF1_HUMAN	TATA element modulatory factor 1	517					acrosome assembly (GO:0001675)|cellular response to organic cyclic compound (GO:0071407)|defense response to bacterium (GO:0042742)|Leydig cell differentiation (GO:0033327)|luteinizing hormone secretion (GO:0032275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|positive regulation of cytokine production (GO:0001819)|positive regulation of testosterone secretion (GO:2000845)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|sperm motility (GO:0030317)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription cofactor activity (GO:0003712)			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		TCTCTTTGCAGGCTAGTTGAA	0.323																																																0													76	68	70					3																	69092928		1799	4082	5881	SO:0001819	synonymous_variant	7110				CCDS43105.1	3p21-p12	2009-02-11			ENSG00000144747	ENSG00000144747			11870	protein-coding gene	gene with protein product		601126				1409643	Standard	NM_007114		Approved	ARA160, TMF	uc003dnn.3	P82094	OTTHUMG00000158771	ENST00000398559.2:c.1551C>T	chr3.hg19:g.69092928G>A			B7ZLJ2|Q17R87|Q59GK0	Silent	SNP	ENST00000398559.2	hg19	CCDS43105.1																																																																																				0.323	TMF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352106.1	NM_007114		A	69092928	G	A	69092928	2	1	792	1	0	0	0	0	0	0	0	1	16233	987	35	2		2	TMF1	3	69092928	Silent	SNP	G	TCGA-SX-A7SP-01A-11D-A34Z-10	20086962	69092928	128929502	13	47097											
MYH15	22989	hgsc.bcm.edu	37	3	108229380	108229399	+	Frame_Shift_Del	DEL	TTATTAAAGCAATCCACCAA	TTATTAAAGCAATCCACCAA	-			TCGA-SX-A7SP-01A-11D-A34Z-10	TCGA-SX-A7SP-10A-01D-A34Z-10	TTATTAAAGCAATCCACCAA	TTATTAAAGCAATCCACCAA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6abb591-8bba-4022-b736-659828bb3947	68027171-3c57-48ce-b796-f96345b1c177	g.chr3:108229380_108229399delTTATTAAAGCAATCCACCAA	ENST00000273353.3	-	2	95_114	c.39_58delTTGGTGGATTGCTTTAATAA	c.(37-60)ttttggtggattgctttaataaagfs	p.FWWIALIK13fs		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	13						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						AGATCCATCTTTATTAAAGCAATCCACCAAAAAAAGGCCC	0.427																																																0																																										SO:0001589	frameshift_variant	22989			AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"Myosins / Myosin superfamily : Class II"	31073	protein-coding gene	gene with protein product		609929	"myosin, heavy polypeptide 15"			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.39_58delTTGGTGGATTGCTTTAATAA	chr3.hg19:g.108229380_108229399delTTATTAAAGCAATCCACCAA	ENSP00000273353:p.Phe13fs			Frame_Shift_Del	DEL	ENST00000273353.3	hg19	CCDS43127.1																																																																																				0.427	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		-	108229399	TTATTAAAGCAATCCACCAA	-	108229380	7	5	792	1	0	1	0	1	0	0	0	0	10036	1850	64	0	5946	0	MYH15	3	108229380	Frame_Shift_Del	DEL	TTATTAAAGCAATCCACCAA	TCGA-SX-A7SP-01A-11D-A34Z-10	39136452	108229380	89793050	14	47098											
PPP2R3A	5523	hgsc.bcm.edu	37	3	135797207	135797208	+	Splice_Site	DEL	AG	AG	-			TCGA-SX-A7SP-01A-11D-A34Z-10	TCGA-SX-A7SP-10A-01D-A34Z-10	AG	AG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6abb591-8bba-4022-b736-659828bb3947	68027171-3c57-48ce-b796-f96345b1c177	g.chr3:135797207_135797208delAG	ENST00000264977.3	+	7	3161		c.e7-1		PPP2R3A_ENST00000334546.2_Splice_Site|PPP2R3A_ENST00000492624.2_Splice_Site|PPP2R3A_ENST00000490467.1_Splice_Site	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha						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						TTTTGGAACCAGGTTATTCAGA	0.322																																																0																																										SO:0001630	splice_region_variant	5523			L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "EF-hand domain containing"	9307	protein-coding gene	gene with protein product		604944	"protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.2545-1AG>-	chr3.hg19:g.135797207_135797208delAG			A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Splice_Site	DEL	ENST00000264977.3	hg19	CCDS3087.1																																																																																				0.322	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357232.1	NM_002718	Intron	-	135797208	AG	-	135797207	8	5	792	1	0	1	0	1	0	0	1	0	12393	202	7	0	2701	0	PPP2R3A	3	135797207	Splice_Site	DEL	AG	TCGA-SX-A7SP-01A-11D-A34Z-10	27567827	135797207	62225223	15	47099											
KLB	152831	hgsc.bcm.edu	37	4	39449950	39449950	+	Missense_Mutation	SNP	G	G	C			TCGA-SX-A7SP-01A-11D-A34Z-10	TCGA-SX-A7SP-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6abb591-8bba-4022-b736-659828bb3947	68027171-3c57-48ce-b796-f96345b1c177	g.chr4:39449950G>C	ENST00000257408.4	+	5	2876	c.2779G>C	c.(2779-2781)Ggc>Cgc	p.G927R		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	927	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						CAGAATCAAAGGCTATTATGC	0.299																																																0													34	37	36					4																	39449950		2199	4299	6498	SO:0001583	missense	152831			AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962			15527	protein-coding gene	gene with protein product		611135					Standard	NM_175737		Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.2779G>C	chr4.hg19:g.39449950G>C	ENSP00000257408:p.Gly927Arg		Q2M3K8	Missense_Mutation	SNP	ENST00000257408.4	hg19	CCDS3451.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.785144	0.90282	.	.	ENSG00000134962	ENST00000257408	T	0.74737	-0.87	5.78	5.78	0.91487	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.90150	0.6922	M	0.92833	3.35	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91708	0.5379	10	0.87932	D	0	-25.4111	20.0143	0.97474	0.0:0.0:1.0:0.0	.	918;927	B7ZL50;Q86Z14	.;KLOTB_HUMAN	R	927	ENSP00000257408:G927R	ENSP00000257408:G927R	G	+	1	0	KLB	39126345	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.061000	0.89467	2.740000	0.93945	0.313000	0.20887	GGC		0.299	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250429.1	NM_175737		C	39449950	G	C	39449950	3	2	792	1	0	0	0	0	1	0	0	0	8334	1000	35	4	2797	4	KLB	4	39449950	Missense_Mutation	SNP	G	TCGA-SX-A7SP-01A-11D-A34Z-10		39449950	151704326	16	47100											
SLC10A4	201780	hgsc.bcm.edu	37	4	48487117	48487117	+	Missense_Mutation	SNP	C	C	A			TCGA-SX-A7SP-01A-11D-A34Z-10	TCGA-SX-A7SP-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6abb591-8bba-4022-b736-659828bb3947	68027171-3c57-48ce-b796-f96345b1c177	g.chr4:48487117C>A	ENST00000273861.4	+	2	978	c.759C>A	c.(757-759)ttC>ttA	p.F253L		NM_152679.3	NP_689892.1	Q96EP9	NTCP4_HUMAN	solute carrier family 10, member 4	253						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	6						TGGGCGTCTTCATTCGCTACA	0.547																																																0													129	123	125					4																	48487117		2203	4300	6503	SO:0001583	missense	201780			BC012048	CCDS3482.1	4p12	2013-07-18	2013-07-18		ENSG00000145248	ENSG00000145248		"Solute carriers"	22980	protein-coding gene	gene with protein product							Standard	NM_152679		Approved	MGC29802	uc003gyc.2	Q96EP9	OTTHUMG00000102092	ENST00000273861.4:c.759C>A	chr4.hg19:g.48487117C>A	ENSP00000273861:p.Phe253Leu		Q8WUZ2	Missense_Mutation	SNP	ENST00000273861.4	hg19	CCDS3482.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.951156	0.53186	.	.	ENSG00000145248	ENST00000273861	T	0.06528	3.29	5.03	5.03	0.67393	.	0.414564	0.29730	N	0.011353	T	0.03053	0.0090	N	0.01464	-0.85	0.45439	D	0.998413	B	0.06786	0.001	B	0.08055	0.003	T	0.54016	-0.8356	10	0.14252	T	0.57	-16.4047	18.9279	0.92552	0.0:1.0:0.0:0.0	.	253	Q96EP9	NTCP4_HUMAN	L	253	ENSP00000273861:F253L	ENSP00000273861:F253L	F	+	3	2	SLC10A4	48181874	1.000000	0.71417	1.000000	0.80357	0.708000	0.40852	2.030000	0.41108	2.771000	0.95319	0.563000	0.77884	TTC		0.547	SLC10A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219926.3	NM_152679		A	48487117	C	A	48487117	3	1	792	1	0	0	0	0	1	0	0	0	14382	825	29	4	765	4	SLC10A4	4	48487117	Missense_Mutation	SNP	C	TCGA-SX-A7SP-01A-11D-A34Z-10	9037167	48487117	142667159	17	47101											
YTHDC1	91746	hgsc.bcm.edu	37	4	69197866	69197866	+	Silent	SNP	G	G	A			TCGA-SX-A7SP-01A-11D-A34Z-10	TCGA-SX-A7SP-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6abb591-8bba-4022-b736-659828bb3947	68027171-3c57-48ce-b796-f96345b1c177	g.chr4:69197866G>A	ENST00000344157.4	-	7	1412	c.1077C>T	c.(1075-1077)ctC>ctT	p.L359L	YTHDC1_ENST00000579690.1_Silent_p.L359L|YTHDC1_ENST00000355665.3_Silent_p.L341L	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	359	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						TACTCTTTATGAGGAAAAATC	0.333																																																0													115	108	110					4																	69197866		2203	4300	6503	SO:0001819	synonymous_variant	91746			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.1077C>T	chr4.hg19:g.69197866G>A			Q4W5Q3|Q7Z622|Q8TF35	Silent	SNP	ENST00000344157.4	hg19	CCDS33992.1																																																																																				0.333	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251437.1	NM_133370		A	69197866	G	A	69197866	2	1	792	1	0	0	0	0	0	0	0	1	17501	1277	45	2		2	YTHDC1	4	69197866	Silent	SNP	G	TCGA-SX-A7SP-01A-11D-A34Z-10	20710749	69197866	121956410	18	47102											
KIAA1109	84162	hgsc.bcm.edu	37	4	123160922	123160922	+	Missense_Mutation	SNP	T	T	G			TCGA-SX-A7SP-01A-11D-A34Z-10	TCGA-SX-A7SP-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6abb591-8bba-4022-b736-659828bb3947	68027171-3c57-48ce-b796-f96345b1c177	g.chr4:123160922T>G	ENST00000264501.4	+	29	4458	c.4085T>G	c.(4084-4086)tTt>tGt	p.F1362C	KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000388738.3_Missense_Mutation_p.F1362C|KIAA1109_ENST00000455637.1_Missense_Mutation_p.F1362C			Q2LD37	K1109_HUMAN	KIAA1109	1362					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						AGGAGAAGTTTTGGTTCATTC	0.423																																																0													112	105	107					4																	123160922		1937	4138	6075	SO:0001583	missense	84162			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.4085T>G	chr4.hg19:g.123160922T>G	ENSP00000264501:p.Phe1362Cys		Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	hg19	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.08|19.08	3.757454|3.757454	0.69648|0.69648	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637|ENST00000424425	T;T;T|.	0.30182|.	2.14;2.14;1.54|.	5.98|5.98	5.98|5.98	0.97165|0.97165	.|.	0.152547|0.152547	0.28247|0.28247	U|U	0.016055|0.016055	T|T	0.49406|0.49406	0.1555|0.1555	N|N	0.14661|0.14661	0.345|0.345	0.41980|0.41980	D|D	0.990792|0.990792	D|.	0.63880|.	0.993|.	P|.	0.53185|.	0.72|.	T|T	0.47959|0.47959	-0.9076|-0.9076	10|6	0.62326|.	D|.	0.03|.	.|.	16.4731|16.4731	0.84124|0.84124	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1362|.	Q2LD37|.	K1109_HUMAN|.	C|L	1362|1193	ENSP00000264501:F1362C;ENSP00000373390:F1362C;ENSP00000389925:F1362C|.	ENSP00000264501:F1362C|.	F|F	+|+	2|3	0|2	KIAA1109|KIAA1109	123380372|123380372	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.907000|5.907000	0.69908|0.69908	2.293000|2.293000	0.77203|0.77203	0.528000|0.528000	0.53228|0.53228	TTT|TTT		0.423	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		G	123160922	T	G	123160922	3	3	792	1	0	0	0	0	1	0	0	0	8210	1841	64	5	4191	5	KIAA1109	4	123160922	Missense_Mutation	SNP	T	TCGA-SX-A7SP-01A-11D-A34Z-10	53963056	123160922	67993354	19	47103											
KIAA1109	84162	hgsc.bcm.edu	37	4	123170744	123170744	+	Missense_Mutation	SNP	C	C	A			TCGA-SX-A7SP-01A-11D-A34Z-10	TCGA-SX-A7SP-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6abb591-8bba-4022-b736-659828bb3947	68027171-3c57-48ce-b796-f96345b1c177	g.chr4:123170744C>A	ENST00000264501.4	+	36	5990	c.5617C>A	c.(5617-5619)Caa>Aaa	p.Q1873K	KIAA1109_ENST00000388738.3_Missense_Mutation_p.Q1873K|KIAA1109_ENST00000455637.1_Missense_Mutation_p.Q1873K			Q2LD37	K1109_HUMAN	KIAA1109	1873					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						AACTGATCAGCAAGCTGTTCC	0.383																																																0													126	118	120					4																	123170744		1834	4096	5930	SO:0001583	missense	84162			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.5617C>A	chr4.hg19:g.123170744C>A	ENSP00000264501:p.Gln1873Lys		Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	hg19	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.44|15.44	2.834437|2.834437	0.50951|0.50951	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637|ENST00000446180	T;T;T|.	0.23147|.	2.5;2.5;1.92|.	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	0.156761|.	0.27289|.	U|.	0.020053|.	T|T	0.54319|0.54319	0.1851|0.1851	N|N	0.19112|0.19112	0.55|0.55	0.44728|0.44728	D|D	0.997724|0.997724	B;B|.	0.18310|.	0.027;0.001|.	B;B|.	0.18561|.	0.022;0.004|.	T|T	0.49021|0.49021	-0.8982|-0.8982	10|5	0.40728|.	T|.	0.16|.	.|.	19.2917|19.2917	0.94102|0.94102	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1872;1873|.	Q2LD37-2;Q2LD37|.	.;K1109_HUMAN|.	K|R	1873|445	ENSP00000264501:Q1873K;ENSP00000373390:Q1873K;ENSP00000389925:Q1873K|.	ENSP00000264501:Q1873K|.	Q|S	+|+	1|3	0|2	KIAA1109|KIAA1109	123390194|123390194	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.931000|0.931000	0.56810|0.56810	4.621000|4.621000	0.61233|0.61233	2.557000|2.557000	0.86248|0.86248	0.455000|0.455000	0.32223|0.32223	CAA|AGC		0.383	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		A	123170744	C	A	123170744	3	1	792	1	0	0	0	0	1	0	0	0	8210	711	25	4	5751	4	KIAA1109	4	123170744	Missense_Mutation	SNP	C	TCGA-SX-A7SP-01A-11D-A34Z-10	9822	123170744	67983532	20	47104											
GPR98	84059	hgsc.bcm.edu	37	5	90041606	90041606	+	Missense_Mutation	SNP	T	T	G			TCGA-SX-A7SP-01A-11D-A34Z-10	TCGA-SX-A7SP-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6abb591-8bba-4022-b736-659828bb3947	68027171-3c57-48ce-b796-f96345b1c177	g.chr5:90041606T>G	ENST00000405460.2	+	52	11064	c.10968T>G	c.(10966-10968)ttT>ttG	p.F3656L		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3656	Calx-beta 24. {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)		TTGTTGCATTTGCTCAGGTAA	0.343																																																0													110	99	103					5																	90041606		1883	4110	5993	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.10968T>G	chr5.hg19:g.90041606T>G	ENSP00000384582:p.Phe3656Leu		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	hg19	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.9|24.9	4.586652|4.586652	0.86851|0.86851	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619|ENST00000509621	T|.	0.28255|.	1.62|.	5.59|5.59	4.43|4.43	0.53597|0.53597	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78227|0.78227	0.4250|0.4250	M|M	0.89534|0.89534	3.04|3.04	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.996|.	D;P|.	0.73380|.	0.98;0.836|.	T|T	0.79923|0.79923	-0.1598|-0.1598	10|5	0.72032|.	D|.	0.01|.	.|.	10.2968|10.2968	0.43629|0.43629	0.0:0.0815:0.0:0.9185|0.0:0.0815:0.0:0.9185	.|.	3656;3656|.	E7ETI5;Q8WXG9|.	.;GPR98_HUMAN|.	L|W	3656|1222	ENSP00000384582:F3656L|.	ENSP00000296619:F3656L|.	F|L	+|+	3|2	2|0	GPR98|GPR98	90077362|90077362	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.962000|0.962000	0.63368|0.63368	2.449000|2.449000	0.44935|0.44935	0.953000|0.953000	0.37825|0.37825	0.460000|0.460000	0.39030|0.39030	TTT|TTG		0.343	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		G	90041606	T	G	90041606	3	3	792	1	0	0	0	0	1	0	0	0	6723	1809	63	5	11174	5	GPR98	5	90041606	Missense_Mutation	SNP	T	TCGA-SX-A7SP-01A-11D-A34Z-10		90041606	90873654	21	47105											
GRM6	2916	hgsc.bcm.edu	37	5	178418914	178418914	+	Nonsense_Mutation	SNP	A	A	T			TCGA-SX-A7SP-01A-11D-A34Z-10	TCGA-SX-A7SP-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6abb591-8bba-4022-b736-659828bb3947	68027171-3c57-48ce-b796-f96345b1c177	g.chr5:178418914A>T	ENST00000517717.1	-	3	713	c.675T>A	c.(673-675)taT>taA	p.Y225*	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Nonsense_Mutation_p.Y225*			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	225					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CACTTTCGCCATAGTTGCCCT	0.642																																																0													76	64	68					5																	178418914		2203	4300	6503	SO:0001587	stop_gained	2916			U82083	CCDS4442.1	5q35	2014-01-28						"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.675T>A	chr5.hg19:g.178418914A>T	ENSP00000430767:p.Tyr225*			Nonsense_Mutation	SNP	ENST00000517717.1	hg19	CCDS4442.1	.	.	.	.	.	.	.	.	.	.	A	38	6.795385	0.97845	.	.	ENSG00000113262	ENST00000319065;ENST00000231188;ENST00000517717	.	.	.	5.48	-1.16	0.09678	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.4038	0.44246	0.5205:0.0:0.4795:0.0	.	.	.	.	X	173;225;225	.	ENSP00000231188:Y225X	Y	-	3	2	GRM6	178351520	0.859000	0.29813	0.992000	0.48379	0.846000	0.48090	0.051000	0.14141	-0.341000	0.08376	0.533000	0.62120	TAT		0.642	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			T	178418914	A	T	178418914	4	4	792	1	0	0	0	0	0	1	0	0	6803	224	8	5	1994	5	GRM6	5	178418914	Nonsense_Mutation	SNP	A	TCGA-SX-A7SP-01A-11D-A34Z-10	88377308	178418914	2496346	22	47106											
SLC22A23	63027	hgsc.bcm.edu	37	6	3456326	3456326	+	Frame_Shift_Del	DEL	G	G	-			TCGA-SX-A7SP-01A-11D-A34Z-10	TCGA-SX-A7SP-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6abb591-8bba-4022-b736-659828bb3947	68027171-3c57-48ce-b796-f96345b1c177	g.chr6:3456326delG	ENST00000406686.3	-	1	467	c.468delC	c.(466-468)cccfs	p.P156fs	SLC22A23_ENST00000436008.2_Frame_Shift_Del_p.P156fs|SLC22A23_ENST00000380298.2_Frame_Shift_Del_p.P156fs	NM_015482.1	NP_056297.1	A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23	156					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				AGGGGGTGGTGGGGAGGCTGG	0.731																																																0													8	15	13					6																	3456326		690	1586	2276	SO:0001589	frameshift_variant	63027			AJ420525	CCDS34331.1, CCDS47363.1, CCDS75389.1	6p25.2	2013-05-22	2008-01-11	2008-01-11	ENSG00000137266	ENSG00000137266		"Solute carriers"	21106	protein-coding gene	gene with protein product		611697	"chromosome 6 open reading frame 85"	C6orf85		17714910	Standard	NM_015482		Approved	FLJ22174	uc003mvm.3	A1A5C7	OTTHUMG00000014144	ENST00000406686.3:c.468delC	chr6.hg19:g.3456326delG	ENSP00000385028:p.Pro156fs		A1A5C8|Q5T8B8|Q6ZMH3|Q8IW73	Frame_Shift_Del	DEL	ENST00000406686.3	hg19	CCDS47363.1																																																																																				0.731	SLC22A23-006	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353059.1	NM_021945		-	3456326	G	-	3456326	7	5	792	1	0	1	0	1	0	0	0	0	14458	1335	47	0	1632	0	SLC22A23	6	3456326	Frame_Shift_Del	DEL	G	TCGA-SX-A7SP-01A-11D-A34Z-10		3456326	167658741	23	47107											
C6orf153	88745	hgsc.bcm.edu	37	6	42995142	42995142	+	Missense_Mutation	SNP	G	G	C			TCGA-SX-A7SP-01A-11D-A34Z-10	TCGA-SX-A7SP-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6abb591-8bba-4022-b736-659828bb3947	68027171-3c57-48ce-b796-f96345b1c177	g.chr6:42995142G>C	ENST00000244496.5	+	6	580	c.570G>C	c.(568-570)gaG>gaC	p.E190D		NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN	ribosomal RNA processing 36 homolog (S. cerevisiae)	190					ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						AACAGCAGGAGCTGCACCTGG	0.532																																																0													65	60	62					6																	42995142		2203	4300	6503	SO:0001583	missense	88745			BC011933	CCDS34453.1	6p21.1	2010-07-06	2010-07-06	2010-07-06	ENSG00000124541	ENSG00000124541			21374	protein-coding gene	gene with protein product		613475	"chromosome 6 open reading frame 153"	C6orf153		20038530	Standard	NM_033112		Approved	dJ20C7.4	uc003otp.1	Q96EU6	OTTHUMG00000014715	ENST00000244496.5:c.570G>C	chr6.hg19:g.42995142G>C	ENSP00000244496:p.Glu190Asp		Q9BRF6|Q9P0C8	Missense_Mutation	SNP	ENST00000244496.5	hg19	CCDS34453.1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.462215	0.26248	.	.	ENSG00000124541	ENST00000244496	T	0.52295	0.67	5.55	-0.557	0.11800	.	0.254509	0.29653	N	0.011549	T	0.21267	0.0512	L	0.53617	1.68	0.32097	N	0.591077	B	0.30482	0.281	B	0.34931	0.192	T	0.04635	-1.0937	10	0.51188	T	0.08	.	5.2928	0.15737	0.4791:0.1479:0.373:0.0	.	190	Q96EU6	RRP36_HUMAN	D	190	ENSP00000244496:E190D	ENSP00000244496:E190D	E	+	3	2	RRP36	43103120	1.000000	0.71417	0.849000	0.33467	0.153000	0.21895	1.358000	0.34102	0.030000	0.15379	0.462000	0.41574	GAG		0.532	RRP36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040572.1	NM_033112		C	42995142	G	C	42995142	3	2	792	1	0	0	0	0	1	0	0	0	2340	962	34	4	592	4	C6orf153	6	42995142	Missense_Mutation	SNP	G	TCGA-SX-A7SP-01A-11D-A34Z-10	39538816	42995142	128119925	24	47108	505	2									
C6orf153	88745	hgsc.bcm.edu	37	6	42995151	42995151	+	Silent	SNP	G	G	C			TCGA-SX-A7SP-01A-11D-A34Z-10	TCGA-SX-A7SP-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6abb591-8bba-4022-b736-659828bb3947	68027171-3c57-48ce-b796-f96345b1c177	g.chr6:42995151G>C	ENST00000244496.5	+	6	589	c.579G>C	c.(577-579)ctG>ctC	p.L193L		NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN	ribosomal RNA processing 36 homolog (S. cerevisiae)	193					ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						AGCTGCACCTGGCCCTGAAGC	0.552																																																0													64	60	62					6																	42995151		2203	4300	6503	SO:0001819	synonymous_variant	88745			BC011933	CCDS34453.1	6p21.1	2010-07-06	2010-07-06	2010-07-06	ENSG00000124541	ENSG00000124541			21374	protein-coding gene	gene with protein product		613475	"chromosome 6 open reading frame 153"	C6orf153		20038530	Standard	NM_033112		Approved	dJ20C7.4	uc003otp.1	Q96EU6	OTTHUMG00000014715	ENST00000244496.5:c.579G>C	chr6.hg19:g.42995151G>C			Q9BRF6|Q9P0C8	Silent	SNP	ENST00000244496.5	hg19	CCDS34453.1																																																																																				0.552	RRP36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040572.1	NM_033112		C	42995151	G	C	42995151	2	2	792	1	0	0	0	0	0	0	0	1	2340	1335	47	4		4	C6orf153	6	42995151	Silent	SNP	G	TCGA-SX-A7SP-01A-11D-A34Z-10	9	42995151	128119916	25	47109	505	2									
BMPER	168667	hgsc.bcm.edu	37	7	34125603	34125603	+	Silent	SNP	G	G	A			TCGA-SX-A7SP-01A-11D-A34Z-10	TCGA-SX-A7SP-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6abb591-8bba-4022-b736-659828bb3947	68027171-3c57-48ce-b796-f96345b1c177	g.chr7:34125603G>A	ENST00000297161.2	+	14	2018	c.1644G>A	c.(1642-1644)ggG>ggA	p.G548G	BMPER_ENST00000426693.1_Silent_p.G548G	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	548	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TGTGTCAAGGGACAGTCAAGG	0.507																																																0													143	136	138					7																	34125603		2203	4300	6503	SO:0001819	synonymous_variant	168667				CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"crossveinless-2"	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.1644G>A	chr7.hg19:g.34125603G>A			A8K1P8|Q8TF36	Silent	SNP	ENST00000297161.2	hg19	CCDS5442.1																																																																																				0.507	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250570.2	NM_133468		A	34125603	G	A	34125603	2	1	792	1	0	0	0	0	0	0	0	1	1468	1161	41	2		2	BMPER	7	34125603	Silent	SNP	G	TCGA-SX-A7SP-01A-11D-A34Z-10		34125603	125013060	26	47110											
MUC17	140453	hgsc.bcm.edu	37	7	100683299	100683299	+	Missense_Mutation	SNP	A	A	T			TCGA-SX-A7SP-01A-11D-A34Z-10	TCGA-SX-A7SP-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6abb591-8bba-4022-b736-659828bb3947	68027171-3c57-48ce-b796-f96345b1c177	g.chr7:100683299A>T	ENST00000306151.4	+	3	8666	c.8602A>T	c.(8602-8604)Agt>Tgt	p.S2868C		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2868	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)					TAGTGAAGGAAGTACTCTATT	0.488																																																0													249	259	255					7																	100683299		2203	4300	6503	SO:0001583	missense	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.8602A>T	chr7.hg19:g.100683299A>T	ENSP00000302716:p.Ser2868Cys		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	hg19	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	A	6.149	0.395626	0.11638	.	.	ENSG00000169876	ENST00000306151	T	0.02682	4.2	0.911	-0.0914	0.13661	.	.	.	.	.	T	0.03651	0.0104	L	0.34521	1.04	0.09310	N	1	D	0.54964	0.969	P	0.49477	0.612	T	0.43653	-0.9378	9	0.62326	D	0.03	.	4.9824	0.14172	0.2504:0.0:0.7496:0.0	.	2868	Q685J3	MUC17_HUMAN	C	2868	ENSP00000302716:S2868C	ENSP00000302716:S2868C	S	+	1	0	MUC17	100470019	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.325000	0.07976	-0.037000	0.13646	0.113000	0.15668	AGT		0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		T	100683299	A	T	100683299	3	4	792	1	0	0	0	0	1	0	0	0	9976	72	3	5	8612	5	MUC17	7	100683299	Missense_Mutation	SNP	A	TCGA-SX-A7SP-01A-11D-A34Z-10	66557696	100683299	58455364	27	47111											
ZNF862	643641	hgsc.bcm.edu	37	7	149545262	149545262	+	Missense_Mutation	SNP	T	T	A			TCGA-SX-A7SP-01A-11D-A34Z-10	TCGA-SX-A7SP-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6abb591-8bba-4022-b736-659828bb3947	68027171-3c57-48ce-b796-f96345b1c177	g.chr7:149545262T>A	ENST00000223210.4	+	4	925	c.680T>A	c.(679-681)gTt>gAt	p.V227D		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	227					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)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						CCTGGAGATGTTCTGGCCAGC	0.607																																																0													44	47	46					7																	149545262		1924	4142	6066	SO:0001583	missense	643641			AB011115	CCDS47741.1	7q36.1	2013-01-11			ENSG00000106479	ENSG00000106479		"Zinc fingers, C2H2-type", "-"	34519	protein-coding gene	gene with protein product							Standard	NM_001099220		Approved		uc010lpn.3	O60290	OTTHUMG00000158093	ENST00000223210.4:c.680T>A	chr7.hg19:g.149545262T>A	ENSP00000223210:p.Val227Asp		A0AUL8	Missense_Mutation	SNP	ENST00000223210.4	hg19	CCDS47741.1	.	.	.	.	.	.	.	.	.	.	T	8.241	0.806878	0.16467	.	.	ENSG00000106479	ENST00000223210	T	0.01159	5.25	4.92	1.13	0.20643	.	1.177670	0.06440	N	0.725840	T	0.01320	0.0043	L	0.40543	1.245	0.09310	N	1	P	0.40476	0.718	B	0.36030	0.216	T	0.48692	-0.9013	10	0.87932	D	0	-22.1868	4.9891	0.14205	0.0:0.0975:0.3728:0.5297	.	227	O60290	ZN862_HUMAN	D	227	ENSP00000223210:V227D	ENSP00000223210:V227D	V	+	2	0	ZNF862	149176195	0.000000	0.05858	0.000000	0.03702	0.190000	0.23558	0.176000	0.16782	0.194000	0.20326	-0.313000	0.08912	GTT		0.607	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350165.1	NM_001099220		A	149545262	T	A	149545262	3	1	792	1	0	0	0	0	1	0	0	0	18200	1725	60	5	694	5	ZNF862	7	149545262	Missense_Mutation	SNP	T	TCGA-SX-A7SP-01A-11D-A34Z-10	48861963	149545262	9593401	28	47112											
NFX1	4799	hgsc.bcm.edu	37	9	33295177	33295177	+	Missense_Mutation	SNP	C	C	T			TCGA-SX-A7SP-01A-11D-A34Z-10	TCGA-SX-A7SP-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6abb591-8bba-4022-b736-659828bb3947	68027171-3c57-48ce-b796-f96345b1c177	g.chr9:33295177C>T	ENST00000379540.3	+	2	847	c.785C>T	c.(784-786)cCa>cTa	p.P262L	NFX1_ENST00000318524.6_Missense_Mutation_p.P262L|NFX1_ENST00000379521.4_Missense_Mutation_p.P262L	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	262					inflammatory response (GO:0006954)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		AGAAATCCACCAAAACAGGAG	0.532																																																0													107	103	104					9																	33295177		2203	4300	6503	SO:0001583	missense	4799			U19759	CCDS6538.1, CCDS6539.1, CCDS6540.1	9p12	2013-12-13			ENSG00000086102	ENSG00000086102			7803	protein-coding gene	gene with protein product		603255				7964459, 2511169	Standard	NM_002504		Approved	NFX2, MGC20369, Tex42, TEG-42	uc003zsq.3	Q12986	OTTHUMG00000019772	ENST00000379540.3:c.785C>T	chr9.hg19:g.33295177C>T	ENSP00000368856:p.Pro262Leu		A8K6H8|Q5VXW6|Q96EL5|Q9BXI1	Missense_Mutation	SNP	ENST00000379540.3	hg19	CCDS6538.1	.	.	.	.	.	.	.	.	.	.	C	9.924	1.213089	0.22289	.	.	ENSG00000086102	ENST00000379540;ENST00000379521;ENST00000536210;ENST00000318524	T;T;T	0.42131	0.98;0.98;0.98	5.38	3.33	0.38152	.	0.490876	0.21846	N	0.068253	T	0.32285	0.0824	L	0.41236	1.265	0.36408	D	0.863562	P;P;P;P;P	0.50272	0.763;0.651;0.933;0.763;0.763	B;B;B;B;P	0.44897	0.361;0.153;0.386;0.293;0.463	T	0.28202	-1.0051	10	0.29301	T	0.29	.	5.9995	0.19513	0.1639:0.6577:0.0:0.1784	.	262;146;262;262;262	F5GXD0;A0JLR2;Q12986;Q12986-2;Q12986-3	.;.;NFX1_HUMAN;.;.	L	262	ENSP00000368856:P262L;ENSP00000368836:P262L;ENSP00000317695:P262L	ENSP00000317695:P262L	P	+	2	0	NFX1	33285177	0.613000	0.27009	0.998000	0.56505	0.550000	0.35303	1.142000	0.31540	1.265000	0.44215	0.551000	0.68910	CCA		0.532	NFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052069.1			T	33295177	C	T	33295177	3	4	792	1	0	0	0	0	1	0	0	0	10389	594	21	2	791	2	NFX1	9	33295177	Missense_Mutation	SNP	C	TCGA-SX-A7SP-01A-11D-A34Z-10		33295177	107918254	29	47113											
CDK5RAP2	55755	hgsc.bcm.edu	37	9	123313158	123313158	+	Missense_Mutation	SNP	T	T	C			TCGA-SX-A7SP-01A-11D-A34Z-10	TCGA-SX-A7SP-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6abb591-8bba-4022-b736-659828bb3947	68027171-3c57-48ce-b796-f96345b1c177	g.chr9:123313158T>C	ENST00000349780.4	-	4	397	c.218A>G	c.(217-219)gAa>gGa	p.E73G	CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.E73G|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.E73G|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.E73G	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	73					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						GTTAAAGTTTTCTTTCTTCAA	0.393																																																0													97	100	99					9																	123313158		2203	4300	6503	SO:0001583	missense	55755			BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"centrosomin"	608201	"microcephaly, primary autosomal recessive 3"	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.218A>G	chr9.hg19:g.123313158T>C	ENSP00000343818:p.Glu73Gly		Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	ENST00000349780.4	hg19	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	T	29.1	4.976257	0.92982	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000345313	T;T;T;T	0.50813	0.73;0.73;0.73;0.73	6.08	6.08	0.98989	Spindle associated (1);	0.000000	0.64402	D	0.000011	T	0.74861	0.3772	M	0.89601	3.045	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	0.80484	-0.1362	10	0.87932	D	0	.	15.6338	0.76933	0.0:0.0:0.0:1.0	.	73;73;73	Q96SN8-2;Q96SN8-4;Q96SN8	.;.;CK5P2_HUMAN	G	73	ENSP00000354065:E73G;ENSP00000352258:E73G;ENSP00000343818:E73G;ENSP00000353317:E73G	ENSP00000341695:E73G	E	-	2	0	CDK5RAP2	122352979	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.545000	0.82128	2.333000	0.79357	0.482000	0.46254	GAA		0.393	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249		C	123313158	T	C	123313158	3	2	792	1	0	0	0	0	1	0	0	0	3148	1783	62	3	5603	3	CDK5RAP2	9	123313158	Missense_Mutation	SNP	T	TCGA-SX-A7SP-01A-11D-A34Z-10	90017981	123313158	17900273	30	47114											
BAT2L1	84726	hgsc.bcm.edu	37	9	134319670	134319670	+	Missense_Mutation	SNP	G	G	A			TCGA-SX-A7SP-01A-11D-A34Z-10	TCGA-SX-A7SP-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6abb591-8bba-4022-b736-659828bb3947	68027171-3c57-48ce-b796-f96345b1c177	g.chr9:134319670G>A	ENST00000357304.4	+	5	623	c.568G>A	c.(568-570)Gtc>Atc	p.V190I	PRRC2B_ENST00000458550.1_Missense_Mutation_p.V190I|PRRC2B_ENST00000405995.1_Missense_Mutation_p.V190I|PRRC2B_ENST00000372249.1_5'Flank	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	190							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						AGAAAAGGGCGTCTTAGATCT	0.552																																																0													49	51	50					9																	134319670		2038	4199	6237	SO:0001583	missense	84726			AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"KIAA0515", "HLA-B associated transcript 2-like", "HLA-B associated transcript 2-like 1"	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.568G>A	chr9.hg19:g.134319670G>A	ENSP00000349856:p.Val190Ile		O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	ENST00000357304.4	hg19	CCDS48044.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.273583	0.80580	.	.	ENSG00000130723	ENST00000405995;ENST00000541684;ENST00000357304;ENST00000458550	T;T;T	0.21191	2.02;2.02;2.02	5.54	5.54	0.83059	BAT2, N-terminal (1);	0.410913	0.17223	U	0.182247	T	0.23846	0.0577	L	0.44542	1.39	0.80722	D	1	P	0.45428	0.858	B	0.40741	0.339	T	0.01977	-1.1236	10	0.49607	T	0.09	-25.7014	18.4643	0.90749	0.0:0.0:1.0:0.0	.	190	Q5JSZ5	PRC2B_HUMAN	I	190	ENSP00000384606:V190I;ENSP00000349856:V190I;ENSP00000398853:V190I	ENSP00000349856:V190I	V	+	1	0	PRRC2B	133309491	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.436000	0.66538	2.618000	0.88619	0.462000	0.41574	GTC		0.552	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				A	134319670	G	A	134319670	3	1	792	1	0	0	0	0	1	0	0	0	1320	1145	40	1	586	1	BAT2L1	9	134319670	Missense_Mutation	SNP	G	TCGA-SX-A7SP-01A-11D-A34Z-10	11006512	134319670	6893761	31	47115											
ZNF37A	7587	hgsc.bcm.edu	37	10	38406703	38406703	+	Silent	SNP	T	T	C			TCGA-SX-A7SP-01A-11D-A34Z-10	TCGA-SX-A7SP-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6abb591-8bba-4022-b736-659828bb3947	68027171-3c57-48ce-b796-f96345b1c177	g.chr10:38406703T>C	ENST00000361085.5	+	7	969	c.624T>C	c.(622-624)aaT>aaC	p.N208N	ZNF37A_ENST00000351773.3_Silent_p.N208N	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	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)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						GTGGAGAAAATATCTTTGAGG	0.363																																																0													76	74	75					10																	38406703		2203	4300	6503	SO:0001819	synonymous_variant	7587			X69115	CCDS31183.1	10p11.2	2013-01-08	2006-05-11		ENSG00000075407	ENSG00000075407		"Zinc fingers, C2H2-type", "-"	13102	protein-coding gene	gene with protein product			"zinc finger protein 37a (KOX 21)"			2014798, 8464732	Standard	NM_001178101		Approved	KOX21, ZNF37	uc001izl.3	P17032	OTTHUMG00000017990	ENST00000361085.5:c.624T>C	chr10.hg19:g.38406703T>C			B3KRQ3|D3DRZ3|Q96B88	Silent	SNP	ENST00000361085.5	hg19	CCDS31183.1																																																																																				0.363	ZNF37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047624.2	NM_003421		C	38406703	T	C	38406703	2	2	792	1	0	0	0	0	0	0	0	1	17877	1403	49	3		3	ZNF37A	10	38406703	Silent	SNP	T	TCGA-SX-A7SP-01A-11D-A34Z-10		38406703	97128044	32	47116											
SYT15	83849	hgsc.bcm.edu	37	10	46968622	46968622	+	Missense_Mutation	SNP	G	G	A	rs577411839	byFrequency	TCGA-SX-A7SP-01A-11D-A34Z-10	TCGA-SX-A7SP-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6abb591-8bba-4022-b736-659828bb3947	68027171-3c57-48ce-b796-f96345b1c177	g.chr10:46968622G>A	ENST00000374321.4	-	3	380	c.314C>T	c.(313-315)cCg>cTg	p.P105L	SYT15_ENST00000503753.1_Missense_Mutation_p.P105L|SYT15_ENST00000374323.4_Missense_Mutation_p.P158L|RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000374325.3_Missense_Mutation_p.P105L	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	105						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CTCTGATGCCGGGCAGGGGTC	0.677													G|||	2	0.000399361	0.0	0.0014	5008	,	,		34493	0.0		0.0	False		,,,				2504	0.001				Ovarian(57;1152 1428 19651 37745)											0													32	41	38					10																	46968622		2079	4209	6288	SO:0001583	missense	83849			AJ303363	CCDS73103.1, CCDS73104.1	10q11.1	2013-01-21			ENSG00000204176	ENSG00000204176		"Synaptotagmins"	17167	protein-coding gene	gene with protein product		608081				11543631	Standard	NM_031912		Approved	CHR10SYT	uc001jea.3	Q9BQS2	OTTHUMG00000018103	ENST00000374321.4:c.314C>T	chr10.hg19:g.46968622G>A	ENSP00000363441:p.Pro105Leu		A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	Missense_Mutation	SNP	ENST00000374321.4	hg19	CCDS44376.1	.	.	.	.	.	.	.	.	.	.	.	0.006	-2.028849	0.00410	.	.	ENSG00000204176	ENST00000416127;ENST00000374325;ENST00000503753;ENST00000374323;ENST00000374321	T;T;T;T	0.14022	2.54;2.54;2.84;2.78	4.59	-3.51	0.04696	.	0.916532	0.09209	N	0.833581	T	0.05364	0.0142	N	0.16066	0.365	0.09310	N	0.999991	B;B	0.14012	0.002;0.009	B;B	0.11329	0.001;0.006	T	0.44436	-0.9328	10	0.08179	T	0.78	.	4.409	0.11423	0.3898:0.0:0.3705:0.2397	.	105;105	Q9BQS2;Q9BQS2-2	SYT15_HUMAN;.	L	105;105;105;158;105	ENSP00000363445:P105L;ENSP00000427607:P105L;ENSP00000363443:P158L;ENSP00000363441:P105L	ENSP00000363441:P105L	P	-	2	0	SYT15	46388628	0.001000	0.12720	0.001000	0.08648	0.005000	0.04900	-0.097000	0.11042	-0.539000	0.06273	-0.263000	0.10527	CCG		0.677	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367008.1	NM_031912		A	46968622	G	A	46968622	3	1	792	1	0	0	0	0	1	0	0	0	15476	1116	39	1	1029	1	SYT15	10	46968622	Missense_Mutation	SNP	G	TCGA-SX-A7SP-01A-11D-A34Z-10	8561919	46968622	88566125	33	47117											
CNNM2	54805	hgsc.bcm.edu	37	10	104678459	104678459	+	Silent	SNP	C	C	A			TCGA-SX-A7SP-01A-11D-A34Z-10	TCGA-SX-A7SP-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6abb591-8bba-4022-b736-659828bb3947	68027171-3c57-48ce-b796-f96345b1c177	g.chr10:104678459C>A	ENST00000369878.4	+	1	410	c.222C>A	c.(220-222)atC>atA	p.I74I	CNNM2_ENST00000369875.3_Silent_p.I74I|CNNM2_ENST00000433628.2_Silent_p.I74I	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	74					magnesium ion homeostasis (GO:0010960)|magnesium ion transport (GO:0015693)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	adenyl nucleotide binding (GO:0030554)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		AGACGGTGATCATCGGGCTGC	0.706																																																0													33	20	24					10																	104678459		2168	4270	6438	SO:0001819	synonymous_variant	54805			AF216962	CCDS7543.1, CCDS44474.1, CCDS44475.1	10q24.32	2014-08-08	2014-08-07		ENSG00000148842	ENSG00000148842			103	protein-coding gene	gene with protein product		607803	"cyclin M2"	ACDP2		21393841, 24699222	Standard	NM_017649		Approved		uc001kwm.3	Q9H8M5	OTTHUMG00000018976	ENST00000369878.4:c.222C>A	chr10.hg19:g.104678459C>A			Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Silent	SNP	ENST00000369878.4	hg19	CCDS44474.1																																																																																				0.706	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050113.3	NM_017649		A	104678459	C	A	104678459	2	1	792	1	0	0	0	0	0	0	0	1	3615	816	29	4		4	CNNM2	10	104678459	Silent	SNP	C	TCGA-SX-A7SP-01A-11D-A34Z-10	57709837	104678459	30856288	34	47118											
OR10A6	390093	hgsc.bcm.edu	37	11	7949415	7949415	+	Silent	SNP	G	G	C			TCGA-SX-A7SP-01A-11D-A34Z-10	TCGA-SX-A7SP-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6abb591-8bba-4022-b736-659828bb3947	68027171-3c57-48ce-b796-f96345b1c177	g.chr11:7949415G>C	ENST00000309838.2	-	1	794	c.795C>G	c.(793-795)ggC>ggG	p.G265G		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	265						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)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCGGTGAGTAGCCAGATTTGG	0.453																																																0													148	137	141					11																	7949415		2201	4296	6497	SO:0001819	synonymous_variant	390093			AB065515	CCDS31420.1	11p15.4	2012-08-09			ENSG00000175393	ENSG00000175393		"GPCR / Class A : Olfactory receptors"	15132	protein-coding gene	gene with protein product							Standard	NM_001004461		Approved		uc010rbh.2	Q8NH74	OTTHUMG00000165671	ENST00000309838.2:c.795C>G	chr11.hg19:g.7949415G>C			Q6IF59	Silent	SNP	ENST00000309838.2	hg19	CCDS31420.1																																																																																				0.453	OR10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385703.1	NM_001004461		C	7949415	G	C	7949415	2	2	792	1	0	0	0	0	0	0	0	1	10896	958	34	4		4	OR10A6	11	7949415	Silent	SNP	G	TCGA-SX-A7SP-01A-11D-A34Z-10		7949415	127057101	35	47119	506	2									
OR10A6	390093	hgsc.bcm.edu	37	11	7949417	7949417	+	Missense_Mutation	SNP	C	C	T	rs374770684		TCGA-SX-A7SP-01A-11D-A34Z-10	TCGA-SX-A7SP-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6abb591-8bba-4022-b736-659828bb3947	68027171-3c57-48ce-b796-f96345b1c177	g.chr11:7949417C>T	ENST00000309838.2	-	1	792	c.793G>A	c.(793-795)Ggc>Agc	p.G265S		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	265						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)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGTGAGTAGCCAGATTTGGGT	0.453																																																0								C	SER/GLY	1,4401	2.1+/-5.4	0,1,2200	148	137	140		793	0.8	1	11		140	0,8592		0,0,4296	no	missense	OR10A6	NM_001004461.1	56	0,1,6496	TT,TC,CC		0.0,0.0227,0.0077	benign	265/315	7949417	1,12993	2201	4296	6497	SO:0001583	missense	390093			AB065515	CCDS31420.1	11p15.4	2012-08-09			ENSG00000175393	ENSG00000175393		"GPCR / Class A : Olfactory receptors"	15132	protein-coding gene	gene with protein product							Standard	NM_001004461		Approved		uc010rbh.2	Q8NH74	OTTHUMG00000165671	ENST00000309838.2:c.793G>A	chr11.hg19:g.7949417C>T	ENSP00000312470:p.Gly265Ser		Q6IF59	Missense_Mutation	SNP	ENST00000309838.2	hg19	CCDS31420.1	.	.	.	.	.	.	.	.	.	.	C	1.923	-0.447830	0.04572	2.27E-4	0.0	ENSG00000175393	ENST00000309838	T	0.00058	8.79	4.43	0.818	0.18778	GPCR, rhodopsin-like superfamily (1);	0.926234	0.08901	N	0.877249	T	0.00039	0.0001	N	0.00873	-1.125	0.09310	N	1	B	0.18013	0.025	B	0.24541	0.054	T	0.09862	-1.0655	10	0.02654	T	1	.	6.8267	0.23887	0.0:0.3001:0.0:0.6999	.	265	Q8NH74	O10A6_HUMAN	S	265	ENSP00000312470:G265S	ENSP00000312470:G265S	G	-	1	0	OR10A6	7905993	0.000000	0.05858	0.973000	0.42090	0.985000	0.73830	-0.216000	0.09266	0.316000	0.23135	0.655000	0.94253	GGC		0.453	OR10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385703.1	NM_001004461		T	7949417	C	T	7949417	3	4	792	1	0	0	0	0	1	0	0	0	10896	594	21	2	154	2	OR10A6	11	7949417	Missense_Mutation	SNP	C	TCGA-SX-A7SP-01A-11D-A34Z-10	2	7949417	127057099	36	47120	506	2									
TMX2	51075	hgsc.bcm.edu	37	11	57506447	57506447	+	Splice_Site	SNP	T	T	A			TCGA-SX-A7SP-01A-11D-A34Z-10	TCGA-SX-A7SP-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6abb591-8bba-4022-b736-659828bb3947	68027171-3c57-48ce-b796-f96345b1c177	g.chr11:57506447T>A	ENST00000278422.4	+	6	562	c.550T>A	c.(550-552)Tac>Aac	p.Y184N	C11orf31_ENST00000388857.4_5'Flank|C11orf31_ENST00000534355.1_5'Flank|TMX2_ENST00000378312.4_Splice_Site_p.Y146N|TMX2-CTNND1_ENST00000528395.1_Intron	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	184	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				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						TCTTTTCAGATACAACTGTAC	0.398																																																0													77	77	77					11																	57506447		2201	4296	6497	SO:0001630	splice_region_variant	51075			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.549-1T>A	chr11.hg19:g.57506447T>A			B7Z4R4|Q53G73|Q561W0|Q5J7Q7|Q8NBP9|Q9H3L1	Missense_Mutation	SNP	ENST00000278422.4	hg19	CCDS7967.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.375394	0.82682	.	.	ENSG00000213593	ENST00000378312;ENST00000278422	T;T	0.26810	1.71;1.71	5.95	5.95	0.96441	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.000000	0.85682	U	0.000000	T	0.52041	0.1710	M	0.74389	2.26	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.55451	-0.8139	10	0.87932	D	0	-5.8569	14.6535	0.68814	0.0:0.0:0.0:1.0	.	146;184	Q9Y320-2;Q9Y320	.;TMX2_HUMAN	N	146;184	ENSP00000367562:Y146N;ENSP00000278422:Y184N	ENSP00000278422:Y184N	Y	+	1	0	TMX2	57263023	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.033000	0.76504	2.279000	0.76181	0.533000	0.62120	TAC		0.398	TMX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393708.1	NM_015959	Missense_Mutation	A	57506447	T	A	57506447	5	1	792	1	0	0	0	0	0	0	1	0	16272	1420	49	5	572	5	TMX2	11	57506447	Splice_Site	SNP	T	TCGA-SX-A7SP-01A-11D-A34Z-10	49557030	57506447	77500069	37	47121											
CNTN5	53942	hgsc.bcm.edu	37	11	99690484	99690484	+	Missense_Mutation	SNP	T	T	A	rs199899455		TCGA-SX-A7SP-01A-11D-A34Z-10	TCGA-SX-A7SP-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6abb591-8bba-4022-b736-659828bb3947	68027171-3c57-48ce-b796-f96345b1c177	g.chr11:99690484T>A	ENST00000524871.1	+	4	555	c.265T>A	c.(265-267)Ttc>Atc	p.F89I	CNTN5_ENST00000528682.1_Missense_Mutation_p.F89I|CNTN5_ENST00000527185.1_Missense_Mutation_p.F89I|CNTN5_ENST00000279463.3_Missense_Mutation_p.F89I|CNTN5_ENST00000418526.2_Intron	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	89					cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CTCAGATGCCTTCAAACAAGA	0.413																																																0													27	26	26					11																	99690484		1829	4069	5898	SO:0001583	missense	53942			AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.265T>A	chr11.hg19:g.99690484T>A	ENSP00000435637:p.Phe89Ile		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	hg19	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	T	18.04	3.534345	0.64972	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000279463	T;T;T;T	0.55413	0.52;0.59;0.59;0.59	5.06	5.06	0.68205	.	0.238319	0.36234	N	0.002702	T	0.37376	0.1001	N	0.19112	0.55	0.44745	D	0.997741	B;B	0.27823	0.19;0.19	B;B	0.21151	0.02;0.033	T	0.20638	-1.0269	10	0.35671	T	0.21	.	14.699	0.69142	0.0:0.0:0.0:1.0	.	89;89	E9PKE8;O94779	.;CNTN5_HUMAN	I	89	ENSP00000433575:F89I;ENSP00000436185:F89I;ENSP00000435637:F89I;ENSP00000279463:F89I	ENSP00000279463:F89I	F	+	1	0	CNTN5	99195694	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.260000	0.65490	2.208000	0.71279	0.528000	0.53228	TTC		0.413	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		A	99690484	T	A	99690484	3	1	792	1	0	0	0	0	1	0	0	0	3646	1609	56	5	271	5	CNTN5	11	99690484	Missense_Mutation	SNP	T	TCGA-SX-A7SP-01A-11D-A34Z-10	42184037	99690484	35316032	38	47122											
DDX10	1662	hgsc.bcm.edu	37	11	108535923	108535923	+	Missense_Mutation	SNP	G	G	A			TCGA-SX-A7SP-01A-11D-A34Z-10	TCGA-SX-A7SP-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6abb591-8bba-4022-b736-659828bb3947	68027171-3c57-48ce-b796-f96345b1c177	g.chr11:108535923G>A	ENST00000322536.3	+	1	172	c.43G>A	c.(43-45)Gac>Aac	p.D15N	DDX10_ENST00000526794.1_Missense_Mutation_p.D15N	NM_004398.2	NP_004389.2	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	15					metabolic process (GO:0008152)		ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		AGCCCGACCCGACCCGGTGCG	0.582			T	NUP98	AML*																																		Dom	yes		11	11q22-q23	1662	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10		L	0													26	31	29					11																	108535923		2198	4297	6495	SO:0001583	missense	1662			U28042	CCDS8342.1	11q22-q23	2005-10-11	2003-06-13		ENSG00000178105	ENSG00000178105		"DEAD-boxes"	2735	protein-coding gene	gene with protein product		601235	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase)"			8660968	Standard	NM_004398		Approved	HRH-J8	uc001pkm.3	Q13206	OTTHUMG00000166540	ENST00000322536.3:c.43G>A	chr11.hg19:g.108535923G>A	ENSP00000314348:p.Asp15Asn		B2RCQ3|Q5BJD8	Missense_Mutation	SNP	ENST00000322536.3	hg19	CCDS8342.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.011847	0.93346	.	.	ENSG00000178105	ENST00000322536;ENST00000456020;ENST00000526794	T;T	0.44083	0.94;0.93	5.55	4.63	0.57726	.	0.240683	0.47852	D	0.000210	T	0.54935	0.1889	M	0.64997	1.995	0.34465	D	0.702219	D;D	0.89917	0.999;1.0	P;P	0.57911	0.734;0.829	T	0.66296	-0.5959	10	0.32370	T	0.25	-18.9435	14.3605	0.66768	0.0:0.1482:0.8518:0.0	.	15;15	Q13206;E9PIF2	DDX10_HUMAN;.	N	15	ENSP00000314348:D15N;ENSP00000432032:D15N	ENSP00000314348:D15N	D	+	1	0	DDX10	108041133	1.000000	0.71417	0.944000	0.38274	0.941000	0.58515	5.141000	0.64814	1.317000	0.45149	0.484000	0.47621	GAC		0.582	DDX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390343.1	NM_004398		A	108535923	G	A	108535923	3	1	792	1	0	0	0	0	1	0	0	0	4344	1058	37	1	45	1	DDX10	11	108535923	Missense_Mutation	SNP	G	TCGA-SX-A7SP-01A-11D-A34Z-10	8845439	108535923	26470593	39	47123											
STRAP	11171	hgsc.bcm.edu	37	12	16043580	16043580	+	Frame_Shift_Del	DEL	A	A	-			TCGA-SX-A7SP-01A-11D-A34Z-10	TCGA-SX-A7SP-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6abb591-8bba-4022-b736-659828bb3947	68027171-3c57-48ce-b796-f96345b1c177	g.chr12:16043580delA	ENST00000419869.2	+	4	693	c.380delA	c.(379-381)tatfs	p.Y127fs	STRAP_ENST00000538352.1_Frame_Shift_Del_p.Y33fs|STRAP_ENST00000025399.6_Frame_Shift_Del_p.Y140fs	NM_007178.3	NP_009109.3	Q9Y3F4	STRAP_HUMAN	serine/threonine kinase receptor associated protein	127					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)				TTACGCATATATGACTTGAAC	0.279																																																0													76	79	78					12																	16043580		2203	4300	6503	SO:0001589	frameshift_variant	11171			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.380delA	chr12.hg19:g.16043580delA	ENSP00000392270:p.Tyr127fs		B2R5S5|B4DNJ6|Q5TZT4|Q9NTK0|Q9UQC8	Frame_Shift_Del	DEL	ENST00000419869.2	hg19	CCDS8676.1																																																																																				0.279	STRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401114.1	NM_007178		-	16043580	A	-	16043580	7	5	792	1	0	1	0	1	0	0	0	0	15331	449	16	0	394	0	STRAP	12	16043580	Frame_Shift_Del	DEL	A	TCGA-SX-A7SP-01A-11D-A34Z-10		16043580	117808315	40	47124											
PDE3A	5139	hgsc.bcm.edu	37	12	20774323	20774323	+	Missense_Mutation	SNP	G	G	C			TCGA-SX-A7SP-01A-11D-A34Z-10	TCGA-SX-A7SP-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6abb591-8bba-4022-b736-659828bb3947	68027171-3c57-48ce-b796-f96345b1c177	g.chr12:20774323G>C	ENST00000359062.3	+	5	1558	c.1518G>C	c.(1516-1518)aaG>aaC	p.K506N	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	506					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)	ACCATGTAAAGGCTAAAAAGC	0.403																																																0													96	84	88					12																	20774323		2203	4300	6503	SO:0001583	missense	5139				CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"Phosphodiesterases"	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.1518G>C	chr12.hg19:g.20774323G>C	ENSP00000351957:p.Lys506Asn		O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	hg19	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	G	10.44	1.351516	0.24512	.	.	ENSG00000172572	ENST00000359062	T	0.50813	0.73	5.57	1.34	0.21922	.	1.054050	0.07345	N	0.881400	T	0.26159	0.0638	N	0.14661	0.345	0.30219	N	0.796972	B	0.02656	0.0	B	0.01281	0.0	T	0.33523	-0.9865	10	0.21014	T	0.42	.	3.2508	0.06814	0.0937:0.3798:0.3107:0.2157	.	506	Q14432	PDE3A_HUMAN	N	506	ENSP00000351957:K506N	ENSP00000351957:K506N	K	+	3	2	PDE3A	20665590	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.210000	0.32370	0.685000	0.31468	0.591000	0.81541	AAG		0.403	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			C	20774323	G	C	20774323	3	2	792	1	0	0	0	0	1	0	0	0	11639	991	35	4	1536	4	PDE3A	12	20774323	Missense_Mutation	SNP	G	TCGA-SX-A7SP-01A-11D-A34Z-10	4730743	20774323	113077572	41	47125											
NCKAP5L	57701	hgsc.bcm.edu	37	12	50190029	50190029	+	Silent	SNP	C	C	T			TCGA-SX-A7SP-01A-11D-A34Z-10	TCGA-SX-A7SP-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6abb591-8bba-4022-b736-659828bb3947	68027171-3c57-48ce-b796-f96345b1c177	g.chr12:50190029C>T	ENST00000335999.6	-	8	1815	c.1614G>A	c.(1612-1614)ccG>ccA	p.P538P		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	534	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						AGGCTGACTGCGGGGGTCTGA	0.637																																																0													19	22	21					12																	50190029		2135	4229	6364	SO:0001819	synonymous_variant	57701			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.1614G>A	chr12.hg19:g.50190029C>T			Q2TB26|Q71RH1|Q8N4W1|Q96HX2	Silent	SNP	ENST00000335999.6	hg19	CCDS41781.2	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.248173	0.00271	.	.	ENSG00000167566	ENST00000433948	.	.	.	4.58	-8.12	0.01078	.	.	.	.	.	T	0.16041	0.0386	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.20773	-1.0265	4	.	.	.	-10.2704	2.9345	0.05810	0.1616:0.1869:0.4482:0.2033	.	.	.	.	T	253	.	.	A	-	1	0	NCKAP5L	48476296	0.269000	0.24143	0.000000	0.03702	0.000000	0.00434	-0.739000	0.04866	-1.604000	0.01595	-2.076000	0.00381	GCA		0.637	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346884.2	XM_035497		T	50190029	C	T	50190029	2	4	792	1	0	0	0	0	0	0	0	1	10226	755	27	1		1	NCKAP5L	12	50190029	Silent	SNP	C	TCGA-SX-A7SP-01A-11D-A34Z-10	29415706	50190029	83661866	42	47126											
MDM1	56890	hgsc.bcm.edu	37	12	68719340	68719340	+	Missense_Mutation	SNP	G	G	T	rs372443907		TCGA-SX-A7SP-01A-11D-A34Z-10	TCGA-SX-A7SP-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6abb591-8bba-4022-b736-659828bb3947	68027171-3c57-48ce-b796-f96345b1c177	g.chr12:68719340G>T	ENST00000303145.7	-	4	600	c.514C>A	c.(514-516)Cgt>Agt	p.R172S	MDM1_ENST00000411698.2_Intron|MDM1_ENST00000540418.1_5'UTR|MDM1_ENST00000430606.2_3'UTR|MDM1_ENST00000545724.1_5'UTR|MDM1_ENST00000393543.3_3'UTR	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	172					retina development in camera-type eye (GO:0060041)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		GCTTTCTTACGCAGAAGTCTA	0.318																																																0													130	141	137					12																	68719340		2203	4300	6503	SO:0001583	missense	56890			AF007130	CCDS8983.1, CCDS44938.1, CCDS55841.1, CCDS55842.1	12q15	2008-04-14	2008-04-14			ENSG00000111554			29917	protein-coding gene	gene with protein product		613813	"Mdm4, transformed 3T3 cell double minute 1, p53 binding protein (mouse)"			8619474, 9110174	Standard	NM_017440		Approved		uc001stz.2	Q8TC05		ENST00000303145.7:c.514C>A	chr12.hg19:g.68719340G>T	ENSP00000302537:p.Arg172Ser		B4DM65|E7EPQ3|O43406|Q8WTV9|Q9NR04	Missense_Mutation	SNP	ENST00000303145.7	hg19	CCDS8983.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.957474	0.53400	.	.	ENSG00000111554	ENST00000303145;ENST00000541686	T;T	0.20463	2.07;2.07	5.29	3.31	0.37934	.	0.501231	0.21482	N	0.073803	T	0.24661	0.0598	M	0.65975	2.015	0.21802	N	0.99953	P	0.39782	0.688	B	0.38985	0.287	T	0.10042	-1.0647	9	.	.	.	-0.4018	13.0634	0.59020	0.0:0.0:0.5863:0.4136	.	172	Q8TC05	MDM1_HUMAN	S	172;167	ENSP00000302537:R172S;ENSP00000446000:R167S	.	R	-	1	0	MDM1	67005607	0.827000	0.29292	0.019000	0.16419	0.967000	0.64934	4.952000	0.63618	1.357000	0.45904	0.561000	0.74099	CGT		0.318	MDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402402.1	NM_020128		T	68719340	G	T	68719340	3	4	792	1	0	0	0	0	1	0	0	0	9414	1087	38	4	1674	4	MDM1	12	68719340	Missense_Mutation	SNP	G	TCGA-SX-A7SP-01A-11D-A34Z-10	18529311	68719340	65132555	43	47127											
P2RX4	5025	hgsc.bcm.edu	37	12	121659899	121659899	+	Silent	SNP	T	T	A			TCGA-SX-A7SP-01A-11D-A34Z-10	TCGA-SX-A7SP-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6abb591-8bba-4022-b736-659828bb3947	68027171-3c57-48ce-b796-f96345b1c177	g.chr12:121659899T>A	ENST00000337233.4	+	4	665	c.357T>A	c.(355-357)atT>atA	p.I119I	P2RX4_ENST00000359949.7_Silent_p.I135I|P2RX4_ENST00000540930.1_3'UTR|P2RX4_ENST00000543171.1_Silent_p.I18I|P2RX4_ENST00000541532.1_Silent_p.I119I	NM_001261397.1|NM_001261398.1|NM_002560.2	NP_001248326.1|NP_001248327.1|NP_002551.2	Q99571	P2RX4_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 4	119					apoptotic signaling pathway (GO:0097190)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cellular response to ATP (GO:0071318)|endothelial cell activation (GO:0042118)|ion transmembrane transport (GO:0034220)|membrane depolarization (GO:0051899)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|neuronal action potential (GO:0019228)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of prostaglandin secretion (GO:0032308)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction (GO:0055117)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sodium ion transport (GO:0002028)|relaxation of cardiac muscle (GO:0055119)|response to ATP (GO:0033198)|response to fluid shear stress (GO:0034405)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|tissue homeostasis (GO:0001894)|transport (GO:0006810)|vasodilation (GO:0042311)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|cadherin binding (GO:0045296)|copper ion binding (GO:0005507)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|protein homodimerization activity (GO:0042803)|purinergic nucleotide receptor activity (GO:0001614)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			breast(1)|kidney(4)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TTTTCCAGATTCCAGATGCGA	0.627																																																0													97	113	107					12																	121659899		2203	4300	6503	SO:0001819	synonymous_variant	5025			Y07684	CCDS9214.1, CCDS58282.1	12q24.32	2012-01-17			ENSG00000135124	ENSG00000135124		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	8535	protein-coding gene	gene with protein product		600846				9016352	Standard	NM_002560		Approved	P2X4	uc031qjt.1	Q99571	OTTHUMG00000169155	ENST00000337233.4:c.357T>A	chr12.hg19:g.121659899T>A			E7EPF7|F6RU17|O00450|O14722|Q5U089|Q5U090|Q8N4N1|Q9UBG9	Silent	SNP	ENST00000337233.4	hg19	CCDS9214.1																																																																																				0.627	P2RX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402545.1	NM_175567		A	121659899	T	A	121659899	2	1	792	1	0	0	0	0	0	0	0	1	11344	1771	62	5		5	P2RX4	12	121659899	Silent	SNP	T	TCGA-SX-A7SP-01A-11D-A34Z-10	52940559	121659899	12191996	44	47128											
RNF34	80196	hgsc.bcm.edu	37	12	121858061	121858061	+	Missense_Mutation	SNP	C	C	A			TCGA-SX-A7SP-01A-11D-A34Z-10	TCGA-SX-A7SP-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6abb591-8bba-4022-b736-659828bb3947	68027171-3c57-48ce-b796-f96345b1c177	g.chr12:121858061C>A	ENST00000392464.2	+	4	719	c.650C>A	c.(649-651)aCt>aAt	p.T217N	RNF34_ENST00000555076.1_Intron|RNF34_ENST00000361234.5_Missense_Mutation_p.T217N|RNF34_ENST00000392465.3_Missense_Mutation_p.T218N					ring finger protein 34, E3 ubiquitin protein ligase											breast(1)|large_intestine(1)	2	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233)		AGTGAAATCACTTCAGCAAAC	0.398																																																0													80	67	71					12																	121858061		2203	4300	6503	SO:0001583	missense	80196			AF306709, AB084914	CCDS9221.1, CCDS31915.1, CCDS73538.1	12q24.31	2012-02-23	2012-02-23			ENSG00000170633		"RING-type (C3HC4) zinc fingers"	17297	protein-coding gene	gene with protein product		608299	"ring finger protein 34"			12118383	Standard	NM_025126		Approved	RIFF, FLJ21786, RIF	uc001ual.2	Q969K3		ENST00000392464.2:c.650C>A	chr12.hg19:g.121858061C>A	ENSP00000376257:p.Thr217Asn			Missense_Mutation	SNP	ENST00000392464.2	hg19		.	.	.	.	.	.	.	.	.	.	C	15.81	2.944440	0.53079	.	.	ENSG00000170633	ENST00000361234;ENST00000392465;ENST00000392464;ENST00000354795	T;T;T	0.31769	2.11;2.11;1.48	5.33	5.33	0.75918	.	0.586691	0.18222	N	0.147843	T	0.15609	0.0376	N	0.03608	-0.345	0.80722	D	1	B;B	0.19583	0.022;0.037	B;B	0.23018	0.019;0.043	T	0.15122	-1.0448	10	0.17832	T	0.49	0.0034	14.8537	0.70319	0.0:1.0:0.0:0.0	.	217;218	Q969K3;Q969K3-2	RNF34_HUMAN;.	N	217;218;217;218	ENSP00000355137:T217N;ENSP00000376258:T218N;ENSP00000376257:T217N	ENSP00000346850:T218N	T	+	2	0	RNF34	120342444	0.993000	0.37304	0.947000	0.38551	0.881000	0.50899	4.069000	0.57541	2.651000	0.90000	0.561000	0.74099	ACT		0.398	RNF34-005	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000413892.1	NM_194271		A	121858061	C	A	121858061	3	1	792	1	0	0	0	0	1	0	0	0	13495	565	20	4	677	4	RNF34	12	121858061	Missense_Mutation	SNP	C	TCGA-SX-A7SP-01A-11D-A34Z-10	198162	121858061	11993834	45	47129											
PITPNM2	57605	hgsc.bcm.edu	37	12	123470897	123470897	+	Splice_Site	SNP	A	A	C			TCGA-SX-A7SP-01A-11D-A34Z-10	TCGA-SX-A7SP-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6abb591-8bba-4022-b736-659828bb3947	68027171-3c57-48ce-b796-f96345b1c177	g.chr12:123470897A>C	ENST00000542749.1	-	24	3790	c.3727T>G	c.(3727-3729)Ttc>Gtc	p.F1243V	PITPNM2_ENST00000280562.5_Splice_Site_p.F1237V|PITPNM2_ENST00000392428.1_Splice_Site_p.F964V|PITPNM2_ENST00000320201.4_Splice_Site_p.F1243V			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	1243					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)		TCCGTGATGAACTGCGGGGTC	0.716																																																0													12	13	12					12																	123470897		2182	4271	6453	SO:0001630	splice_region_variant	57605			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.3727-1T>G	chr12.hg19:g.123470897A>C			Q9P271	Missense_Mutation	SNP	ENST00000542749.1	hg19	CCDS9242.1	.	.	.	.	.	.	.	.	.	.	A	12.32	1.903220	0.33628	.	.	ENSG00000090975	ENST00000280562;ENST00000320201;ENST00000392428;ENST00000542749	T;T;T;T	0.43294	1.27;1.28;0.95;1.28	4.8	4.8	0.61643	.	0.065993	0.64402	D	0.000007	T	0.42314	0.1197	L	0.43152	1.355	0.80722	D	1	P;D	0.54047	0.712;0.964	P;P	0.53146	0.55;0.719	T	0.17653	-1.0362	10	0.10636	T	0.68	-37.789	10.908	0.47092	0.9234:0.0:0.0766:0.0	.	1237;1243	Q9BZ72-2;Q9BZ72	.;PITM2_HUMAN	V	1237;1243;964;1243	ENSP00000280562:F1237V;ENSP00000322218:F1243V;ENSP00000376223:F964V;ENSP00000437611:F1243V	ENSP00000280562:F1237V	F	-	1	0	PITPNM2	122036850	1.000000	0.71417	1.000000	0.80357	0.633000	0.38033	6.041000	0.70988	2.152000	0.67230	0.459000	0.35465	TTC		0.716	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845	Missense_Mutation	C	123470897	A	C	123470897	5	2	792	1	0	0	0	0	0	0	1	0	11953	57	2	5	326	5	PITPNM2	12	123470897	Splice_Site	SNP	A	TCGA-SX-A7SP-01A-11D-A34Z-10	1612836	123470897	10380998	46	47130											
KCNRG	283518	hgsc.bcm.edu	37	13	50590073	50590073	+	Silent	SNP	A	A	T			TCGA-SX-A7SP-01A-11D-A34Z-10	TCGA-SX-A7SP-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6abb591-8bba-4022-b736-659828bb3947	68027171-3c57-48ce-b796-f96345b1c177	g.chr13:50590073A>T	ENST00000312942.1	+	1	684	c.444A>T	c.(442-444)tcA>tcT	p.S148S	TRIM13_ENST00000478111.1_Intron|KCNRG_ENST00000360473.4_Silent_p.S148S|TRIM13_ENST00000378182.3_3'UTR	NM_173605.1	NP_775876.1	Q8N5I3	KCNRG_HUMAN	potassium channel regulator	148					protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)	identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9		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;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204)		AACAACCTTCAGCGCCGACCT	0.463																																																0													145	128	134					13																	50590073		2203	4300	6503	SO:0001819	synonymous_variant	283518				CCDS9424.1, CCDS41889.1	13q14.11	2008-05-02			ENSG00000198553	ENSG00000198553			18893	protein-coding gene	gene with protein product							Standard	NM_173605		Approved		uc001vdu.3	Q8N5I3	OTTHUMG00000140140	ENST00000312942.1:c.444A>T	chr13.hg19:g.50590073A>T			A2A2X9|Q0P6D0|Q8IU75|Q8N3Q9	Silent	SNP	ENST00000312942.1	hg19	CCDS9424.1																																																																																				0.463	KCNRG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276308.1			T	50590073	A	T	50590073	2	4	792	1	0	0	0	0	0	0	0	1	8089	175	7	5		5	KCNRG	13	50590073	Silent	SNP	A	TCGA-SX-A7SP-01A-11D-A34Z-10		50590073	64579805	47	47131											
PCID2	55795	hgsc.bcm.edu	37	13	113832522	113832522	+	Missense_Mutation	SNP	G	G	A			TCGA-SX-A7SP-01A-11D-A34Z-10	TCGA-SX-A7SP-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6abb591-8bba-4022-b736-659828bb3947	68027171-3c57-48ce-b796-f96345b1c177	g.chr13:113832522G>A	ENST00000337344.4	-	14	1266	c.1190C>T	c.(1189-1191)aCg>aTg	p.T397M	PCID2_ENST00000375459.1_Missense_Mutation_p.T395M|PCID2_ENST00000493650.1_5'UTR|PCID2_ENST00000246505.5_Missense_Mutation_p.T451M|PCID2_ENST00000375457.2_Missense_Mutation_p.T395M|PCID2_ENST00000375477.1_Missense_Mutation_p.T397M|PCID2_ENST00000375479.2_Missense_Mutation_p.T397M	NM_001127202.2	NP_001120674.1	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	397					negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mRNA stability (GO:0043488)|spleen development (GO:0048536)					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			TCAACACACCGTGGACAGGGG	0.557																																																0													213	160	178					13																	113832522		2203	4300	6503	SO:0001583	missense	55795			AK002167	CCDS9532.2, CCDS58301.1, CCDS58302.1	13q34	2006-03-31			ENSG00000126226	ENSG00000126226			25653	protein-coding gene	gene with protein product		613713				12477932	Standard	NM_001127203		Approved	FLJ11305	uc031qnm.1	Q5JVF3	OTTHUMG00000017385	ENST00000337344.4:c.1190C>T	chr13.hg19:g.113832522G>A	ENSP00000337405:p.Thr397Met		A6NK09|Q3ZCX1|Q5TC57|Q5TC58|Q9H7K1|Q9HBZ7|Q9NUK6|Q9NVY1|Q9NW44|Q9NWH3	Missense_Mutation	SNP	ENST00000337344.4	hg19	CCDS9532.2	.	.	.	.	.	.	.	.	.	.	G	10.74	1.435139	0.25813	.	.	ENSG00000126226	ENST00000337344;ENST00000375479;ENST00000375477;ENST00000246505;ENST00000375459;ENST00000375457;ENST00000375462;ENST00000246506;ENST00000351317	.	.	.	5.35	5.35	0.76521	.	0.362107	0.25833	N	0.028009	T	0.58750	0.2144	L	0.55990	1.75	0.09310	N	1	D;D	0.59357	0.96;0.985	P;B	0.54629	0.757;0.38	T	0.55685	-0.8102	9	0.59425	D	0.04	-27.4146	17.2683	0.87093	0.0:0.0:1.0:0.0	.	451;397	Q5JVF3-4;Q5JVF3	.;PCID2_HUMAN	M	397;397;397;451;395;395;374;397;374	.	ENSP00000246505:T451M	T	-	2	0	PCID2	112880523	1.000000	0.71417	0.733000	0.30861	0.169000	0.22640	6.309000	0.72825	2.507000	0.84556	0.655000	0.94253	ACG		0.557	PCID2-002	KNOWN	alternative_3_UTR|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045897.1	NM_018386		A	113832522	G	A	113832522	3	1	792	1	0	0	0	0	1	0	0	0	11581	1145	40	1	13	1	PCID2	13	113832522	Missense_Mutation	SNP	G	TCGA-SX-A7SP-01A-11D-A34Z-10	63242449	113832522	1337356	48	47132											
CPNE6	9362	hgsc.bcm.edu	37	14	24545746	24545746	+	Missense_Mutation	SNP	C	C	T			TCGA-SX-A7SP-01A-11D-A34Z-10	TCGA-SX-A7SP-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6abb591-8bba-4022-b736-659828bb3947	68027171-3c57-48ce-b796-f96345b1c177	g.chr14:24545746C>T	ENST00000397016.2	+	14	1456	c.1145C>T	c.(1144-1146)cCg>cTg	p.P382L	CPNE6_ENST00000537691.1_Missense_Mutation_p.P437L|CPNE6_ENST00000216775.2_Missense_Mutation_p.P382L	NM_001280558.1	NP_001267487.1	O95741	CPNE6_HUMAN	copine VI (neuronal)	382	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				lipid metabolic process (GO:0006629)|nervous system development (GO:0007399)|synaptic transmission (GO:0007268)|vesicle-mediated transport (GO:0016192)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		AACTTTGACCCGGAAAATCCT	0.582																																																0													101	104	103					14																	24545746		2203	4300	6503	SO:0001583	missense	9362			AB009288	CCDS9607.1, CCDS61413.1	14q11.2	2008-07-09			ENSG00000100884	ENSG00000100884			2319	protein-coding gene	gene with protein product		605688				9645480	Standard	NM_001280558		Approved		uc001wll.3	O95741	OTTHUMG00000028781	ENST00000397016.2:c.1145C>T	chr14.hg19:g.24545746C>T	ENSP00000380211:p.Pro382Leu		B2RAG6|B7Z1M3|D3DS55|F5GXN1|Q53HA6|Q8WVG1	Missense_Mutation	SNP	ENST00000397016.2	hg19	CCDS9607.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.325572	0.81580	.	.	ENSG00000100884	ENST00000537691;ENST00000397016;ENST00000216775	T;T;T	0.22336	1.96;1.96;1.96	5.06	5.06	0.68205	von Willebrand factor, type A (2);Copine (1);	0.000000	0.64402	D	0.000020	T	0.43366	0.1244	M	0.82923	2.615	0.54753	D	0.999988	D;D	0.63880	0.993;0.981	P;P	0.56514	0.8;0.707	T	0.46442	-0.9191	10	0.72032	D	0.01	-34.9278	13.7833	0.63094	0.0:1.0:0.0:0.0	.	437;382	F5GXN1;O95741	.;CPNE6_HUMAN	L	437;382;382	ENSP00000440077:P437L;ENSP00000380211:P382L;ENSP00000216775:P382L	ENSP00000216775:P382L	P	+	2	0	CPNE6	23615586	0.031000	0.19500	0.969000	0.41365	0.889000	0.51656	1.889000	0.39718	2.617000	0.88574	0.563000	0.77884	CCG		0.582	CPNE6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071869.5			T	24545746	C	T	24545746	3	4	792	1	0	0	0	0	1	0	0	0	3818	652	23	1	1191	1	CPNE6	14	24545746	Missense_Mutation	SNP	C	TCGA-SX-A7SP-01A-11D-A34Z-10		24545746	82803794	49	47133											
PSMA6	5687	hgsc.bcm.edu	37	14	35783593	35783596	+	Frame_Shift_Del	DEL	TCTA	TCTA	-			TCGA-SX-A7SP-01A-11D-A34Z-10	TCGA-SX-A7SP-10A-01D-A34Z-10	TCTA	TCTA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6abb591-8bba-4022-b736-659828bb3947	68027171-3c57-48ce-b796-f96345b1c177	g.chr14:35783593_35783596delTCTA	ENST00000261479.4	+	6	735_738	c.615_618delTCTA	c.(613-618)gttctafs	p.VL205fs	PSMA6_ENST00000555764.1_Frame_Shift_Del_p.VL126fs|PSMA6_ENST00000540871.1_Frame_Shift_Del_p.VL186fs|PSMA6_ENST00000553809.1_Frame_Shift_Del_p.VL211fs|PSMA6_ENST00000556506.1_Intron|KIAA0391_ENST00000557565.1_3'UTR	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 6	205					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 NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of inflammatory response (GO:0050727)|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)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|myofibril (GO:0030016)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysome (GO:0005844)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)|sarcomere (GO:0030017)	endopeptidase activity (GO:0004175)|NF-kappaB binding (GO:0051059)|purine ribonucleoside triphosphate binding (GO:0035639)|RNA binding (GO:0003723)|threonine-type endopeptidase activity (GO:0004298)			kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		TGTCTACTGTTCTATCAATTGATT	0.328																																																0																																										SO:0001589	frameshift_variant	5687			X59417	CCDS9655.1, CCDS61437.1, CCDS61438.1	14q13	2003-03-12			ENSG00000100902	ENSG00000100902		"Proteasome (prosome, macropain) subunits"	9535	protein-coding gene	gene with protein product		602855				1888762, 8811196	Standard	NM_002791		Approved	IOTA, PROS27, p27K, MGC22756, MGC2333, MGC23846	uc001wtd.3	P60900	OTTHUMG00000140221	ENST00000261479.4:c.615_618delTCTA	chr14.hg19:g.35783593_35783596delTCTA	ENSP00000261479:p.Val205fs		B2R7J9|B4DQR4|B4DXJ9|P34062|Q6IB60	Frame_Shift_Del	DEL	ENST00000261479.4	hg19	CCDS9655.1																																																																																				0.328	PSMA6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276684.1			-	35783596	TCTA	-	35783593	7	5	792	1	0	1	0	1	0	0	0	0	12676	1770	62	0	637	0	PSMA6	14	35783593	Frame_Shift_Del	DEL	TCTA	TCGA-SX-A7SP-01A-11D-A34Z-10	11237847	35783593	71565947	50	47134											
C14orf106	55320	hgsc.bcm.edu	37	14	45705110	45705110	+	Missense_Mutation	SNP	T	T	C			TCGA-SX-A7SP-01A-11D-A34Z-10	TCGA-SX-A7SP-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6abb591-8bba-4022-b736-659828bb3947	68027171-3c57-48ce-b796-f96345b1c177	g.chr14:45705110T>C	ENST00000310806.4	-	6	1713	c.1255A>G	c.(1255-1257)Ata>Gta	p.I419V		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	419					CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						ATCCGCTCTATAATTACATTA	0.308																																																0													103	96	98					14																	45705110		2201	4299	6500	SO:0001583	missense	55320			AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"kinetochore null 2 homolog (C. elegans)"		"chromosome 14 open reading frame 106"	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.1255A>G	chr14.hg19:g.45705110T>C	ENSP00000309790:p.Ile419Val		D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Missense_Mutation	SNP	ENST00000310806.4	hg19	CCDS9684.1	.	.	.	.	.	.	.	.	.	.	T	3.759	-0.049993	0.07407	.	.	ENSG00000129534	ENST00000310806	T	0.14266	2.52	5.76	-0.741	0.11112	SANT associated (1);	0.646080	0.15216	N	0.274189	T	0.06325	0.0163	N	0.14661	0.345	0.25662	N	0.985991	B	0.17465	0.022	B	0.19946	0.027	T	0.44345	-0.9334	10	0.08837	T	0.75	-3.5739	9.0435	0.36331	0.0:0.5491:0.0:0.4509	.	419	Q6P0N0	M18BP_HUMAN	V	419	ENSP00000309790:I419V	ENSP00000309790:I419V	I	-	1	0	MIS18BP1	44774860	0.995000	0.38212	0.982000	0.44146	0.904000	0.53231	0.212000	0.17497	-0.089000	0.12484	-0.256000	0.11100	ATA		0.308	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276795.2			C	45705110	T	C	45705110	3	2	792	1	0	0	0	0	1	0	0	0	1740	1406	49	3	2191	3	C14orf106	14	45705110	Missense_Mutation	SNP	T	TCGA-SX-A7SP-01A-11D-A34Z-10	9921517	45705110	61644430	51	47135											
SIPA1L1	26037	hgsc.bcm.edu	37	14	72055984	72055984	+	Silent	SNP	G	G	A			TCGA-SX-A7SP-01A-11D-A34Z-10	TCGA-SX-A7SP-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6abb591-8bba-4022-b736-659828bb3947	68027171-3c57-48ce-b796-f96345b1c177	g.chr14:72055984G>A	ENST00000555818.1	+	2	1743	c.1395G>A	c.(1393-1395)gtG>gtA	p.V465V	SIPA1L1_ENST00000358550.2_Silent_p.V465V|SIPA1L1_ENST00000381232.3_Silent_p.V465V	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	465					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)		TACTTGAAGTGCCCAAGGAGA	0.423																																																0													86	79	81					14																	72055984		2203	4300	6503	SO:0001819	synonymous_variant	26037			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.1395G>A	chr14.hg19:g.72055984G>A			J3KP19|O95321|Q9UDU4|Q9UNU4	Silent	SNP	ENST00000555818.1	hg19	CCDS9807.1																																																																																				0.423	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		A	72055984	G	A	72055984	2	1	792	1	0	0	0	0	0	0	0	1	14335	1306	46	2		2	SIPA1L1	14	72055984	Silent	SNP	G	TCGA-SX-A7SP-01A-11D-A34Z-10	26350874	72055984	35293556	52	47136											
BUB1B	701	hgsc.bcm.edu	37	15	40505677	40505677	+	Splice_Site	SNP	T	T	C			TCGA-SX-A7SP-01A-11D-A34Z-10	TCGA-SX-A7SP-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6abb591-8bba-4022-b736-659828bb3947	68027171-3c57-48ce-b796-f96345b1c177	g.chr15:40505677T>C	ENST00000287598.6	+	20	2873		c.e20+2		BUB1B_ENST00000412359.3_Splice_Site	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B						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)		CAGAAACAGGTTGGTCCTTTT	0.388			"Mis, N, F, S"			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome																													yes	Rec		Mosaic variegated aneuploidy	15	15q15	701	BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)		M	0													129	136	134					15																	40505677		2203	4300	6503	SO:0001630	splice_region_variant	701	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	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.2678+2T>C	chr15.hg19:g.40505677T>C			B2R6U0|B4DL09|B4DLG3|O60501|O60627|O60758|O75389|Q59HH6|Q8WV50|Q96KM4	Splice_Site	SNP	ENST00000287598.6	hg19	CCDS10053.1	.	.	.	.	.	.	.	.	.	.	T	19.27	3.794831	0.70452	.	.	ENSG00000156970	ENST00000287598;ENST00000412359;ENST00000442874	.	.	.	5.0	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7037	0.69174	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	BUB1B	38292969	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	3.805000	0.55575	1.872000	0.54250	0.402000	0.26972	.		0.388	BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252122.4		Intron	C	40505677	T	C	40505677	5	2	792	1	0	0	0	0	0	0	1	0	1573	1739	60	3	2758	3	BUB1B	15	40505677	Splice_Site	SNP	T	TCGA-SX-A7SP-01A-11D-A34Z-10		40505677	62025715	53	47137											
RNF111	54778	hgsc.bcm.edu	37	15	59358971	59358971	+	Silent	SNP	A	A	C			TCGA-SX-A7SP-01A-11D-A34Z-10	TCGA-SX-A7SP-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6abb591-8bba-4022-b736-659828bb3947	68027171-3c57-48ce-b796-f96345b1c177	g.chr15:59358971A>C	ENST00000557998.1	+	6	1662	c.1375A>C	c.(1375-1377)Agg>Cgg	p.R459R	RNF111_ENST00000434298.1_Silent_p.R459R|RNF111_ENST00000348370.4_Silent_p.R459R|RNF111_ENST00000559209.1_Silent_p.R459R|RNF111_ENST00000561186.1_Silent_p.R459R	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	459	Ser-rich.				gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		AGATGACTCAAGGAGAACTAC	0.398																																					NSCLC(72;983 1365 10746 34387 47081)											0													93	84	87					15																	59358971		2192	4291	6483	SO:0001819	synonymous_variant	54778			AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"RING-type (C3HC4) zinc fingers"	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.1375A>C	chr15.hg19:g.59358971A>C			C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Silent	SNP	ENST00000557998.1	hg19	CCDS58366.1																																																																																				0.398	RNF111-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000416012.1	NM_017610		C	59358971	A	C	59358971	2	2	792	1	0	0	0	0	0	0	0	1	13431	63	3	5		5	RNF111	15	59358971	Silent	SNP	A	TCGA-SX-A7SP-01A-11D-A34Z-10	18853294	59358971	43172421	54	47138											
CORO2B	10391	hgsc.bcm.edu	37	15	69003120	69003120	+	Missense_Mutation	SNP	A	A	T			TCGA-SX-A7SP-01A-11D-A34Z-10	TCGA-SX-A7SP-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6abb591-8bba-4022-b736-659828bb3947	68027171-3c57-48ce-b796-f96345b1c177	g.chr15:69003120A>T	ENST00000566799.1	+	4	412	c.383A>T	c.(382-384)gAg>gTg	p.E128V	CORO2B_ENST00000261861.5_Missense_Mutation_p.E123V|CORO2B_ENST00000540068.1_Missense_Mutation_p.E123V|CORO2B_ENST00000543950.1_Missense_Mutation_p.E123V			Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	128				E -> A (in Ref. 1; BAA36341). {ECO:0000305}.	actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|membrane (GO:0016020)	actin binding (GO:0003779)|actin filament binding (GO:0051015)			kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						AACATGACGGAGGCGCTCCTG	0.657																																																0													38	34	35					15																	69003120		2198	4297	6495	SO:0001583	missense	10391			AB010098	CCDS53952.1, CCDS10229.2	15q22.31	2013-01-10	2001-11-28		ENSG00000103647	ENSG00000103647		"Coronins", "WD repeat domain containing"	2256	protein-coding gene	gene with protein product	"clipin C", "coronin, actin-binding, 2B"	605002	"coronin, actin-binding protein, 2B"			10224093, 10231032	Standard	NM_001190456		Approved	ClipinC, KIAA0925	uc021spj.1	Q9UQ03	OTTHUMG00000133288	ENST00000566799.1:c.383A>T	chr15.hg19:g.69003120A>T	ENSP00000454783:p.Glu128Val		A8K0W3|O94767|Q8TAN1	Missense_Mutation	SNP	ENST00000566799.1	hg19	CCDS10229.2	.	.	.	.	.	.	.	.	.	.	A	13.52	2.260878	0.39995	.	.	ENSG00000103647	ENST00000261861;ENST00000540068;ENST00000543950	T;T	0.05786	3.39;3.39	5.69	4.54	0.55810	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	0.12135	0.0295	M	0.84082	2.675	0.58432	D	0.999995	B	0.09022	0.002	B	0.09377	0.004	T	0.01409	-1.1362	10	0.62326	D	0.03	-23.0641	11.3009	0.49304	0.8635:0.0:0.0:0.1365	.	128	Q9UQ03	COR2B_HUMAN	V	128;123;123	ENSP00000446250:E123V;ENSP00000443819:E123V	ENSP00000261861:E128V	E	+	2	0	CORO2B	66790174	1.000000	0.71417	0.981000	0.43875	0.374000	0.29953	7.075000	0.76798	0.942000	0.37525	0.533000	0.62120	GAG		0.657	CORO2B-203	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_006091		T	69003120	A	T	69003120	3	4	792	1	0	0	0	0	1	0	0	0	3759	304	11	5	397	5	CORO2B	15	69003120	Missense_Mutation	SNP	A	TCGA-SX-A7SP-01A-11D-A34Z-10	9644149	69003120	33528272	55	47139											
UBL7	84993	hgsc.bcm.edu	37	15	74742277	74742277	+	Splice_Site	SNP	C	C	G			TCGA-SX-A7SP-01A-11D-A34Z-10	TCGA-SX-A7SP-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6abb591-8bba-4022-b736-659828bb3947	68027171-3c57-48ce-b796-f96345b1c177	g.chr15:74742277C>G	ENST00000567435.1	-	7	1127	c.664G>C	c.(664-666)Ggt>Cgt	p.G222R	UBL7_ENST00000361351.4_Splice_Site_p.G222R|UBL7_ENST00000564488.1_Splice_Site_p.G222R|UBL7_ENST00000395081.2_Splice_Site_p.G222R|UBL7_ENST00000565335.1_Splice_Site_p.G222R			Q96S82	UBL7_HUMAN	ubiquitin-like 7	222										endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						AGGCGCTCACCTGGCATATCC	0.582																																																0													35	32	33					15																	74742277		2197	4296	6493	SO:0001630	splice_region_variant	84993			BC007913	CCDS10263.1	15q23	2014-03-06	2014-03-06		ENSG00000138629	ENSG00000138629			28221	protein-coding gene	gene with protein product	"bone marrow stromal cell-derived ubiquitin-like", " ubiquitin-like protein SB132"	609748	"ubiquitin-like 7 (bone marrow stromal cell-derived)"			12644319	Standard	NM_201265		Approved	BMSC-UbP, MGC14421	uc002axy.1	Q96S82	OTTHUMG00000139001	ENST00000567435.1:c.664+1G>C	chr15.hg19:g.74742277C>G			D3DW57|Q96I03	Missense_Mutation	SNP	ENST00000567435.1	hg19	CCDS10263.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.737423	0.89482	.	.	ENSG00000138629	ENST00000361351;ENST00000395081	T;T	0.49139	0.79;0.79	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.66819	0.2828	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.64533	-0.6385	9	.	.	.	-14.8599	17.469	0.87640	0.0:1.0:0.0:0.0	.	262;222	D3DW56;Q96S82	.;UBL7_HUMAN	R	222	ENSP00000354883:G222R;ENSP00000378518:G222R	.	G	-	1	0	UBL7	72529330	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	5.689000	0.68234	2.654000	0.90174	0.650000	0.86243	GGT		0.582	UBL7-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419627.1	NM_032907, NM_201265	Missense_Mutation	G	74742277	C	G	74742277	5	3	792	1	0	0	0	0	0	0	1	0	16895	695	24	4	498	4	UBL7	15	74742277	Splice_Site	SNP	C	TCGA-SX-A7SP-01A-11D-A34Z-10	5739157	74742277	27789115	56	47140											
MPI	4351	hgsc.bcm.edu	37	15	75183852	75183852	+	Frame_Shift_Del	DEL	A	A	-			TCGA-SX-A7SP-01A-11D-A34Z-10	TCGA-SX-A7SP-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6abb591-8bba-4022-b736-659828bb3947	68027171-3c57-48ce-b796-f96345b1c177	g.chr15:75183852delA	ENST00000352410.4	+	3	344	c.277delA	c.(277-279)aacfs	p.N93fs	MPI_ENST00000564003.1_Frame_Shift_Del_p.N43fs|MPI_ENST00000566377.1_Frame_Shift_Del_p.N93fs|MPI_ENST00000535694.1_Frame_Shift_Del_p.N43fs|MPI_ENST00000323744.6_Frame_Shift_Del_p.N93fs|MPI_ENST00000562606.1_Frame_Shift_Del_p.N73fs|MPI_ENST00000563786.1_Frame_Shift_Del_p.N73fs|MPI_ENST00000565576.1_Frame_Shift_Del_p.N93fs|MPI_ENST00000563422.1_Frame_Shift_Del_p.N93fs			P34949	MPI_HUMAN	mannose phosphate isomerase	93					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						CTTTAATGGCAACCTGCCCTT	0.527																																																0													209	173	185					15																	75183852		2197	4295	6492	SO:0001589	frameshift_variant	4351				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.277delA	chr15.hg19:g.75183852delA	ENSP00000318318:p.Asn93fs		A8K8K9|Q96AB0	Frame_Shift_Del	DEL	ENST00000352410.4	hg19	CCDS10272.1																																																																																				0.527	MPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286418.4			-	75183852	A	-	75183852	7	5	792	1	0	1	0	1	0	0	0	0	9731	130	5	0	287	0	MPI	15	75183852	Frame_Shift_Del	DEL	A	TCGA-SX-A7SP-01A-11D-A34Z-10	441575	75183852	27347540	57	47141											
RUNDC2A	92017	hgsc.bcm.edu	37	16	12145718	12145718	+	Missense_Mutation	SNP	A	A	C			TCGA-SX-A7SP-01A-11D-A34Z-10	TCGA-SX-A7SP-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6abb591-8bba-4022-b736-659828bb3947	68027171-3c57-48ce-b796-f96345b1c177	g.chr16:12145718A>C	ENST00000566228.1	+	8	832	c.763A>C	c.(763-765)Aag>Cag	p.K255Q	SNX29_ENST00000323433.4_5'Flank|SNX29_ENST00000306030.3_5'Flank|SNX29_ENST00000568359.1_3'UTR	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	255						extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						CAAATGCAAAAAGGAGCGGAA	0.403																																																0													48	53	51					16																	12145718		2186	4295	6481	SO:0001583	missense	92017			AK074072	CCDS10553.2	16p13.13-p13.12	2011-08-16			ENSG00000048471	ENSG00000048471		"Sorting nexins"	30542	protein-coding gene	gene with protein product			"RUN domain containing 2A"	RUNDC2A		16782399	Standard	XM_005255682		Approved	FLJ12363	uc002dby.5	Q8TEQ0		ENST00000566228.1:c.763A>C	chr16.hg19:g.12145718A>C	ENSP00000456480:p.Lys255Gln		B5MDW2|Q8N2X2|Q9HA26	Missense_Mutation	SNP	ENST00000566228.1	hg19	CCDS10553.2	.	.	.	.	.	.	.	.	.	.	A	9.936	1.216256	0.22373	.	.	ENSG00000140660	ENST00000268271	.	.	.	5.78	5.78	0.91487	.	0.236638	0.41712	D	0.000837	T	0.69958	0.3169	M	0.62723	1.935	0.80722	D	1	.	.	.	.	.	.	T	0.66893	-0.5808	7	0.27785	T	0.31	-24.1715	14.9367	0.70960	1.0:0.0:0.0:0.0	.	.	.	.	Q	255	.	ENSP00000268271:K255Q	K	+	1	0	RUNDC2A	12053219	1.000000	0.71417	1.000000	0.80357	0.076000	0.17211	5.712000	0.68407	2.212000	0.71576	0.260000	0.18958	AAG		0.403	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422622.1			C	12145718	A	C	12145718	3	2	792	1	0	0	0	0	1	0	0	0	13749	15	1	5	793	5	RUNDC2A	16	12145718	Missense_Mutation	SNP	A	TCGA-SX-A7SP-01A-11D-A34Z-10		12145718	78209035	58	47142											
MKL2	57496	hgsc.bcm.edu	37	16	14340738	14340738	+	Missense_Mutation	SNP	T	T	C			TCGA-SX-A7SP-01A-11D-A34Z-10	TCGA-SX-A7SP-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6abb591-8bba-4022-b736-659828bb3947	68027171-3c57-48ce-b796-f96345b1c177	g.chr16:14340738T>C	ENST00000341243.5	+	10	1588	c.1588T>C	c.(1588-1590)Tca>Cca	p.S530P	MKL2_ENST00000571589.1_Missense_Mutation_p.S541P|MKL2_ENST00000318282.5_Missense_Mutation_p.S541P|MKL2_ENST00000574045.1_Missense_Mutation_p.S541P			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	530					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						GTTCTTGAGTTCATCTCCTTT	0.473																																																0													87	81	83					16																	14340738		2197	4300	6497	SO:0001583	missense	57496			AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.1588T>C	chr16.hg19:g.14340738T>C	ENSP00000345841:p.Ser530Pro		A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Missense_Mutation	SNP	ENST00000341243.5	hg19		.	.	.	.	.	.	.	.	.	.	T	16.14	3.039094	0.55003	.	.	ENSG00000186260	ENST00000318282;ENST00000341243	.	.	.	5.83	5.83	0.93111	.	0.460090	0.23885	N	0.043606	T	0.33381	0.0861	N	0.21373	0.66	0.33071	D	0.535396	D;P	0.57899	0.981;0.937	P;P	0.52109	0.69;0.572	T	0.25641	-1.0126	9	0.05959	T	0.93	-18.8813	9.3958	0.38401	0.25:0.0:0.0:0.75	.	541;541	B4DGT8;Q9ULH7-4	.;.	P	541;530	.	ENSP00000339086:S541P	S	+	1	0	MKL2	14248239	0.235000	0.23794	0.156000	0.22583	0.822000	0.46500	1.036000	0.30228	2.225000	0.72522	0.533000	0.62120	TCA		0.473	MKL2-202	KNOWN	basic	protein_coding	protein_coding		NM_014048		C	14340738	T	C	14340738	3	2	792	1	0	0	0	0	1	0	0	0	9604	1783	62	3	1659	3	MKL2	16	14340738	Missense_Mutation	SNP	T	TCGA-SX-A7SP-01A-11D-A34Z-10	2195020	14340738	76014015	59	47143											
C16orf88	400506	hgsc.bcm.edu	37	16	19726133	19726133	+	Missense_Mutation	SNP	G	G	T			TCGA-SX-A7SP-01A-11D-A34Z-10	TCGA-SX-A7SP-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6abb591-8bba-4022-b736-659828bb3947	68027171-3c57-48ce-b796-f96345b1c177	g.chr16:19726133G>T	ENST00000219837.7	-	2	303	c.225C>A	c.(223-225)agC>agA	p.S75R	KNOP1_ENST00000568230.1_5'Flank|IQCK_ENST00000320394.6_5'Flank|AC002550.5_ENST00000565916.1_RNA	NM_001012991.2	NP_001013009.2	Q1ED39	KNOP1_HUMAN	lysine-rich nucleolar protein 1	75	Lys-rich.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)										CGCAAAGGGTGCTGACACCct	0.532																																																0													64	63	64					16																	19726133		2015	4190	6205	SO:0001583	missense	400506			BC047010	CCDS42127.1	16p12.3	2013-03-12	2013-03-12	2013-03-12	ENSG00000103550	ENSG00000103550			34404	protein-coding gene	gene with protein product	"family with sequence similarity 191, member A", "testis-specific gene 118"		"chromosome 16 open reading frame 88"	C16orf88			Standard	NM_001012991		Approved	101F10.1, FAM191A, TSG118	uc002dgq.3	Q1ED39		ENST00000219837.7:c.225C>A	chr16.hg19:g.19726133G>T	ENSP00000219837:p.Ser75Arg		O43328|Q5FWF3	Missense_Mutation	SNP	ENST00000219837.7	hg19	CCDS42127.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.144187	0.57044	.	.	ENSG00000103550	ENST00000219837	T	0.29142	1.58	4.61	0.587	0.17439	.	2.395750	0.01104	N	0.005453	T	0.45357	0.1338	M	0.61703	1.905	0.09310	N	1	D	0.55385	0.971	P	0.58454	0.839	T	0.11717	-1.0576	9	.	.	.	-2.034	2.1892	0.03894	0.1029:0.1574:0.4003:0.3394	.	75	Q1ED39	CP088_HUMAN	R	75	ENSP00000219837:S75R	.	S	-	3	2	C16orf88	19633634	0.004000	0.15560	0.001000	0.08648	0.019000	0.09904	0.086000	0.14935	0.217000	0.20800	0.561000	0.74099	AGC		0.532	KNOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435993.2	NM_001012991		T	19726133	G	T	19726133	3	4	792	1	0	0	0	0	1	0	0	0	1843	1310	46	4	1167	4	C16orf88	16	19726133	Missense_Mutation	SNP	G	TCGA-SX-A7SP-01A-11D-A34Z-10	5385395	19726133	70628620	60	47144											
GAS8	2622	hgsc.bcm.edu	37	16	90109648	90109648	+	Silent	SNP	C	C	T			TCGA-SX-A7SP-01A-11D-A34Z-10	TCGA-SX-A7SP-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6abb591-8bba-4022-b736-659828bb3947	68027171-3c57-48ce-b796-f96345b1c177	g.chr16:90109648C>T	ENST00000268699.4	+	11	1454	c.1332C>T	c.(1330-1332)gcC>gcT	p.A444A	URAHP_ENST00000517889.1_RNA|GAS8_ENST00000536122.1_Silent_p.A419A	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8	444					cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		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;0.029)		AGCTGCTGGCCTTCGGGATCC	0.647																																																0													85	74	78					16																	90109648		2198	4300	6498	SO:0001819	synonymous_variant	2622			AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"growth arrest-specific 11"	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	ENST00000268699.4:c.1332C>T	chr16.hg19:g.90109648C>T			B2RCT1|B7Z4U1|G3V1L5|Q2M234	Silent	SNP	ENST00000268699.4	hg19	CCDS10992.1																																																																																				0.647	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2			T	90109648	C	T	90109648	2	4	792	1	0	0	0	0	0	0	0	1	6253	668	24	2		2	GAS8	16	90109648	Silent	SNP	C	TCGA-SX-A7SP-01A-11D-A34Z-10	70383515	90109648	245105	61	47145											
RNMTL1	51031	hgsc.bcm.edu	37	17	686403	686403	+	5'Flank	SNP	C	C	T			TCGA-SX-A7SP-01A-11D-A34Z-10	TCGA-SX-A7SP-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6abb591-8bba-4022-b736-659828bb3947	68027171-3c57-48ce-b796-f96345b1c177	g.chr17:686403C>T	ENST00000301328.5	-	0	0				GLOD4_ENST00000536578.1_5'Flank|RNMTL1_ENST00000304478.4_Missense_Mutation_p.S132L|GLOD4_ENST00000301329.6_5'Flank			Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4							extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		AGGCTCATTTCAGACGCTCTC	0.453																																																0													93	84	87					17																	686403		2203	4300	6503	SO:0001631	upstream_gene_variant	55178			AF177342	CCDS32520.1	17p13.3	2008-02-05	2007-03-14	2007-03-14		ENSG00000167699			14111	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 25"	C17orf25		11642406, 12528892	Standard	NM_016080		Approved	CGI-150, HC71	uc002fru.3	Q9HC38			chr17.hg19:g.686403C>T	Exception_encountered		D3DTG9|D3DTH1|Q96B89|Q9H3J8|Q9HC37|Q9NVN1	Missense_Mutation	SNP	ENST00000301328.5	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.42|11.42	1.632684|1.632684	0.29068|0.29068	.|.	.|.	ENSG00000167699|ENSG00000171861	ENST00000397393|ENST00000304478	.|T	.|0.26957	.|1.7	5.41|5.41	3.42|3.42	0.39159|0.39159	.|RNA 2-O ribose methyltransferase, substrate binding (2);	.|0.595355	.|0.19011	.|N	.|0.125074	T|T	0.10508|0.10508	0.0257|0.0257	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.06405	.|0.002	T|T	0.15954|0.15954	-1.0419|-1.0419	6|10	0.87932|0.29301	D|T	0|0.29	-2.4585|-2.4585	3.4235|3.4235	0.07402|0.07402	0.1402:0.5684:0.136:0.1553|0.1402:0.5684:0.136:0.1553	.|.	.|132	.|Q9HC36	.|RMTL1_HUMAN	K|L	35|132	.|ENSP00000306080:S132L	ENSP00000380548:E35K|ENSP00000306080:S132L	E|S	-|+	1|2	0|0	GLOD4|RNMTL1	633153|633153	0.678000|0.678000	0.27586|0.27586	0.945000|0.945000	0.38365|0.38365	0.749000|0.749000	0.42624|0.42624	0.420000|0.420000	0.21263|0.21263	1.287000|1.287000	0.44583|0.44583	0.650000|0.650000	0.86243|0.86243	GAA|TCA		0.453	GLOD4-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000437190.1	NM_016080		T	686403	C	T	686403	1	4	792	0	1	0	0	0	0	0	0	0	13513	838	29	2		2	RNMTL1	17	686403	5'Flank	SNP	C	TCGA-SX-A7SP-01A-11D-A34Z-10		686403	80508807	62	47146											
SMCR8	140775	hgsc.bcm.edu	37	17	18219977	18219977	+	Missense_Mutation	SNP	G	G	A	rs577884923		TCGA-SX-A7SP-01A-11D-A34Z-10	TCGA-SX-A7SP-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6abb591-8bba-4022-b736-659828bb3947	68027171-3c57-48ce-b796-f96345b1c177	g.chr17:18219977G>A	ENST00000406438.3	+	1	1354	c.874G>A	c.(874-876)Gac>Aac	p.D292N	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	292						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						TGAGTCTGCCGACACAGACCT	0.507													G|||	1	0.000199681	0.0	0.0	5008	,	,		20724	0.0		0.0	False		,,,				2504	0.001															0													83	77	79					17																	18219977		2203	4300	6503	SO:0001583	missense	140775			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.874G>A	chr17.hg19:g.18219977G>A	ENSP00000385025:p.Asp292Asn		A5PKZ5|Q3ZCN0|Q6PJL3	Missense_Mutation	SNP	ENST00000406438.3	hg19	CCDS11195.2	.	.	.	.	.	.	.	.	.	.	G	1.498	-0.552877	0.03996	.	.	ENSG00000176994	ENST00000406438	T	0.22945	1.93	6.03	1.61	0.23674	.	0.259532	0.43747	N	0.000538	T	0.10465	0.0256	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37056	-0.9722	10	0.07644	T	0.81	-52.6362	7.3193	0.26517	0.2138:0.1197:0.6665:0.0	.	292	Q8TEV9	SMCR8_HUMAN	N	292	ENSP00000385025:D292N	ENSP00000385025:D292N	D	+	1	0	SMCR8	18160702	0.013000	0.17824	0.000000	0.03702	0.088000	0.18126	0.765000	0.26546	0.077000	0.16863	-0.345000	0.07892	GAC		0.507	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132065.2	NM_144775		A	18219977	G	A	18219977	3	1	792	1	0	0	0	0	1	0	0	0	14798	1058	37	1	876	1	SMCR8	17	18219977	Missense_Mutation	SNP	G	TCGA-SX-A7SP-01A-11D-A34Z-10	17533574	18219977	62975233	63	47147											
CASC3	22794	hgsc.bcm.edu	37	17	38318253	38318254	+	Splice_Site	INS	-	-	G	rs200097668		TCGA-SX-A7SP-01A-11D-A34Z-10	TCGA-SX-A7SP-10A-01D-A34Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6abb591-8bba-4022-b736-659828bb3947	68027171-3c57-48ce-b796-f96345b1c177	g.chr17:38318253_38318254insG	ENST00000264645.7	+	5	682		c.e5-1			NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3						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						TCTGTCCTCTAGGAGAGCACAG	0.47																																																0																																										SO:0001630	splice_region_variant	22794			X80199	CCDS11362.1	17q21.1	2012-09-20			ENSG00000108349	ENSG00000108349			17040	protein-coding gene	gene with protein product		606504				7490069, 18332872	Standard	NM_007359		Approved	MLN51, BTZ	uc002hue.3	O15234	OTTHUMG00000133323	ENST00000264645.7:c.457-1->G	chr17.hg19:g.38318255_38318255dupG			A8K8R0	Splice_Site	INS	ENST00000264645.7	hg19	CCDS11362.1																																																																																				0.47	CASC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257127.3	NM_007359	Intron	G	38318254	-	G	38318253	8	5	792	1	0	1	1	0	0	0	1	0	2663	434	15	0	473	0	CASC3	17	38318253	Splice_Site	INS	-	TCGA-SX-A7SP-01A-11D-A34Z-10	20098276	38318253	42876957	64	47148											
KRTAP4-7	100132476	hgsc.bcm.edu	37	17	39240805	39240805	+	Missense_Mutation	SNP	G	G	T			TCGA-SX-A7SP-01A-11D-A34Z-10	TCGA-SX-A7SP-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6abb591-8bba-4022-b736-659828bb3947	68027171-3c57-48ce-b796-f96345b1c177	g.chr17:39240805G>T	ENST00000391417.4	+	1	347	c.347G>T	c.(346-348)cGc>cTc	p.R116L		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	141	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].		Missing. {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						agctgctgccgcccctgctgc	0.672																																																0													18	18	18					17																	39240805		692	1587	2279	SO:0001583	missense	100132476			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.347G>T	chr17.hg19:g.39240805G>T	ENSP00000375236:p.Arg116Leu		A0AVM6|A8MQ08|A8MTL4	Missense_Mutation	SNP	ENST00000391417.4	hg19	CCDS45673.1	.	.	.	.	.	.	.	.	.	.	.	6.805	0.517638	0.13005	.	.	ENSG00000240871	ENST00000391417	T	0.00606	6.26	3.15	2.13	0.27403	.	0.163808	0.19966	U	0.102091	T	0.00496	0.0016	.	.	.	0.09310	N	1	B	0.18461	0.028	B	0.15052	0.012	T	0.45804	-0.9236	9	0.28530	T	0.3	.	9.2621	0.37619	0.0:0.0:0.7821:0.2179	.	171	Q9BYR0	KRA47_HUMAN	L	116	ENSP00000375236:R116L	ENSP00000375236:R116L	R	+	2	0	KRTAP4-7	36494331	0.000000	0.05858	0.028000	0.17463	0.502000	0.33828	-0.081000	0.11321	0.603000	0.29913	0.289000	0.19496	CGC		0.672	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1			T	39240805	G	T	39240805	3	4	792	1	0	0	0	0	1	0	0	0	8557	1087	38	4	349	4	KRTAP4-7	17	39240805	Missense_Mutation	SNP	G	TCGA-SX-A7SP-01A-11D-A34Z-10	922552	39240805	41954405	65	47149											
KIF2B	84643	hgsc.bcm.edu	37	17	51902187	51902187	+	Missense_Mutation	SNP	T	T	C			TCGA-SX-A7SP-01A-11D-A34Z-10	TCGA-SX-A7SP-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6abb591-8bba-4022-b736-659828bb3947	68027171-3c57-48ce-b796-f96345b1c177	g.chr17:51902187T>C	ENST00000268919.4	+	1	1949	c.1793T>C	c.(1792-1794)gTt>gCt	p.V598A		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	598					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						ATTGAAGAGGTTGAAACATTA	0.418																																																0													149	142	144					17																	51902187		2203	4300	6503	SO:0001583	missense	84643			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.1793T>C	chr17.hg19:g.51902187T>C	ENSP00000268919:p.Val598Ala		Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	hg19	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	T	2.281	-0.364760	0.05103	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.73469	-0.75	5.51	0.573	0.17363	.	2.001250	0.02726	N	0.114494	T	0.57799	0.2078	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.48811	-0.9002	10	0.49607	T	0.09	.	3.9988	0.09570	0.1503:0.2773:0.0:0.5724	.	598	Q8N4N8	KIF2B_HUMAN	A	598;486	ENSP00000268919:V598A	ENSP00000268919:V598A	V	+	2	0	KIF2B	49257186	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-1.122000	0.03267	0.447000	0.26695	0.533000	0.62120	GTT		0.418	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		C	51902187	T	C	51902187	3	2	792	1	0	0	0	0	1	0	0	0	8300	1725	60	3	1795	3	KIF2B	17	51902187	Missense_Mutation	SNP	T	TCGA-SX-A7SP-01A-11D-A34Z-10	12661382	51902187	29293023	66	47150											
ZNF407	55628	hgsc.bcm.edu	37	18	72775890	72775890	+	Silent	SNP	G	G	A			TCGA-SX-A7SP-01A-11D-A34Z-10	TCGA-SX-A7SP-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6abb591-8bba-4022-b736-659828bb3947	68027171-3c57-48ce-b796-f96345b1c177	g.chr18:72775890G>A	ENST00000299687.5	+	8	6213	c.6213G>A	c.(6211-6213)cgG>cgA	p.R2071R		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	2071					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)		CTCAGGAGCGGGCACAGGTGG	0.662																																																0													38	46	44					18																	72775890		2113	4226	6339	SO:0001819	synonymous_variant	55628			AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"Zinc fingers, C2H2-type"	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.6213G>A	chr18.hg19:g.72775890G>A			B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Silent	SNP	ENST00000299687.5	hg19	CCDS45885.1																																																																																				0.662	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		A	72775890	G	A	72775890	2	1	792	1	0	0	0	0	0	0	0	1	17892	1219	43	2		2	ZNF407	18	72775890	Silent	SNP	G	TCGA-SX-A7SP-01A-11D-A34Z-10		72775890	5301358	67	47151											
KCNG2	26251	hgsc.bcm.edu	37	18	77659475	77659475	+	Missense_Mutation	SNP	T	T	A			TCGA-SX-A7SP-01A-11D-A34Z-10	TCGA-SX-A7SP-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6abb591-8bba-4022-b736-659828bb3947	68027171-3c57-48ce-b796-f96345b1c177	g.chr18:77659475T>A	ENST00000316249.3	+	2	1060	c.1060T>A	c.(1060-1062)Tcc>Acc	p.S354T	KCNG2_ENST00000590307.1_3'UTR	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	354					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CCGCGACTTCTCCAGCGTGCC	0.711																																																0													21	22	21					18																	77659475		2200	4298	6498	SO:0001583	missense	26251			AJ011021	CCDS12019.1	18q23	2011-07-05			ENSG00000178342	ENSG00000178342		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6249	protein-coding gene	gene with protein product		605696				10551266, 16382104	Standard	NM_012283		Approved	Kv6.2, KCNF2	uc010xfl.2	Q9UJ96	OTTHUMG00000044541	ENST00000316249.3:c.1060T>A	chr18.hg19:g.77659475T>A	ENSP00000315654:p.Ser354Thr			Missense_Mutation	SNP	ENST00000316249.3	hg19	CCDS12019.1	.	.	.	.	.	.	.	.	.	.	T	4.576	0.107034	0.08780	.	.	ENSG00000178342	ENST00000316249	D	0.97378	-4.36	3.35	-1.73	0.08081	Ion transport (1);	0.224075	0.36101	U	0.002787	D	0.86003	0.5829	N	0.04043	-0.29	0.29711	N	0.839401	B	0.12630	0.006	B	0.20955	0.032	T	0.79522	-0.1769	10	0.02654	T	1	.	4.7552	0.13080	0.6147:0.0:0.13:0.2553	.	354	Q9UJ96	KCNG2_HUMAN	T	354	ENSP00000315654:S354T	ENSP00000315654:S354T	S	+	1	0	KCNG2	75760463	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	4.723000	0.61965	-0.054000	0.13266	0.338000	0.21704	TCC		0.711	KCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103906.1	NM_012283		A	77659475	T	A	77659475	3	1	792	1	0	0	0	0	1	0	0	0	8030	1551	54	5	1066	5	KCNG2	18	77659475	Missense_Mutation	SNP	T	TCGA-SX-A7SP-01A-11D-A34Z-10	4883585	77659475	417773	68	47152											
PRKCSH	5589	hgsc.bcm.edu	37	19	11560110	11560110	+	Missense_Mutation	SNP	G	G	T			TCGA-SX-A7SP-01A-11D-A34Z-10	TCGA-SX-A7SP-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6abb591-8bba-4022-b736-659828bb3947	68027171-3c57-48ce-b796-f96345b1c177	g.chr19:11560110G>T	ENST00000589838.1	+	16	1470	c.1470G>T	c.(1468-1470)atG>atT	p.M490I	PRKCSH_ENST00000252455.2_Missense_Mutation_p.M490I|PRKCSH_ENST00000412601.1_Missense_Mutation_p.M487I|PRKCSH_ENST00000592741.1_Missense_Mutation_p.M497I|PRKCSH_ENST00000587327.1_Missense_Mutation_p.M487I|PRKCSH_ENST00000591462.1_Missense_Mutation_p.M487I			P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	490					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						AAGAGACCATGGTGACCAGCA	0.692																																																0													60	55	57					19																	11560110		2203	4300	6503	SO:0001583	missense	5589				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.1470G>T	chr19.hg19:g.11560110G>T	ENSP00000465461:p.Met490Ile		A8K318|Q96BU9|Q96D06|Q9P0W9	Missense_Mutation	SNP	ENST00000589838.1	hg19	CCDS32911.1	.	.	.	.	.	.	.	.	.	.	G	4.969	0.180061	0.09443	.	.	ENSG00000130175	ENST00000252455;ENST00000412601	D;D	0.82167	-1.58;-1.58	3.72	2.6	0.31112	Mannose-6-phosphate receptor, binding (1);	0.332477	0.28182	N	0.016285	T	0.66127	0.2758	N	0.12182	0.205	0.19945	N	0.999945	B;B;B;B	0.09022	0.002;0.002;0.0;0.001	B;B;B;B	0.08055	0.003;0.003;0.001;0.003	T	0.56456	-0.7976	10	0.35671	T	0.21	-13.6047	9.8819	0.41238	0.0:0.0:0.6528:0.3472	.	497;497;487;490	E7EQZ9;B4DJQ5;A8K318;P14314	.;.;.;GLU2B_HUMAN	I	490;487	ENSP00000252455:M490I;ENSP00000395616:M487I	ENSP00000252455:M490I	M	+	3	0	PRKCSH	11421110	0.719000	0.27986	0.851000	0.33527	0.320000	0.28249	0.689000	0.25437	1.895000	0.54865	0.563000	0.77884	ATG		0.692	PRKCSH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458817.1			T	11560110	G	T	11560110	3	4	792	1	0	0	0	0	1	0	0	0	12521	1348	47	4	1553	4	PRKCSH	19	11560110	Missense_Mutation	SNP	G	TCGA-SX-A7SP-01A-11D-A34Z-10		11560110	47568873	69	47153											
SLC1A6	6511	hgsc.bcm.edu	37	19	15061136	15061136	+	Missense_Mutation	SNP	C	C	A			TCGA-SX-A7SP-01A-11D-A34Z-10	TCGA-SX-A7SP-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6abb591-8bba-4022-b736-659828bb3947	68027171-3c57-48ce-b796-f96345b1c177	g.chr19:15061136C>A	ENST00000221742.3	-	9	1573	c.1566G>T	c.(1564-1566)ttG>ttT	p.L522F	SLC1A6_ENST00000430939.2_Missense_Mutation_p.L458F|SLC1A6_ENST00000600144.1_Missense_Mutation_p.L444F	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	522					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						CCCGCTGAGACAAGTGCTCGA	0.592																																																0													61	57	58					19																	15061136		2203	4300	6503	SO:0001583	missense	6511				CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"Solute carriers"	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.1566G>T	chr19.hg19:g.15061136C>A	ENSP00000221742:p.Leu522Phe		Q8N753	Missense_Mutation	SNP	ENST00000221742.3	hg19	CCDS12321.1	.	.	.	.	.	.	.	.	.	.	c	18.63	3.664453	0.67700	.	.	ENSG00000105143	ENST00000430939;ENST00000221742	T;T	0.73363	-0.74;0.29	5.57	3.32	0.38043	.	0.000000	0.85682	D	0.000000	T	0.74230	0.3689	M	0.67953	2.075	0.80722	D	1	D;P	0.56035	0.974;0.87	P;P	0.48089	0.566;0.477	T	0.76366	-0.2985	10	0.66056	D	0.02	-14.2883	9.118	0.36769	0.0:0.7707:0.1471:0.0822	.	458;522	E7EV13;P48664	.;EAA4_HUMAN	F	458;522	ENSP00000409386:L458F;ENSP00000221742:L522F	ENSP00000221742:L522F	L	-	3	2	SLC1A6	14922136	1.000000	0.71417	0.945000	0.38365	0.916000	0.54674	0.886000	0.28241	1.356000	0.45884	0.544000	0.68410	TTG		0.592	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071		A	15061136	C	A	15061136	3	1	792	1	0	0	0	0	1	0	0	0	14442	477	17	4	132	4	SLC1A6	19	15061136	Missense_Mutation	SNP	C	TCGA-SX-A7SP-01A-11D-A34Z-10	3501026	15061136	44067847	70	47154											
ZNF616	90317	hgsc.bcm.edu	37	19	52618818	52618818	+	Silent	SNP	A	A	T			TCGA-SX-A7SP-01A-11D-A34Z-10	TCGA-SX-A7SP-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6abb591-8bba-4022-b736-659828bb3947	68027171-3c57-48ce-b796-f96345b1c177	g.chr19:52618818A>T	ENST00000600228.1	-	4	1860	c.1599T>A	c.(1597-1599)cgT>cgA	p.R533R	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	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)|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)		CAAAAGCTGAACGGTCACTGA	0.443																																																0													100	96	97					19																	52618818		2203	4300	6503	SO:0001819	synonymous_variant	90317			AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"Zinc fingers, C2H2-type", "-"	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.1599T>A	chr19.hg19:g.52618818A>T			B3KRV1|Q0P658|Q658V7	Silent	SNP	ENST00000600228.1	hg19	CCDS33090.1																																																																																				0.443	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	XM_030892		T	52618818	A	T	52618818	2	4	792	1	0	0	0	0	0	0	0	1	18046	30	2	5		5	ZNF616	19	52618818	Silent	SNP	A	TCGA-SX-A7SP-01A-11D-A34Z-10	37557682	52618818	6510165	71	47155											
ISOC2	79763	hgsc.bcm.edu	37	19	55967191	55967191	+	Missense_Mutation	SNP	G	G	T			TCGA-SX-A7SP-01A-11D-A34Z-10	TCGA-SX-A7SP-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6abb591-8bba-4022-b736-659828bb3947	68027171-3c57-48ce-b796-f96345b1c177	g.chr19:55967191G>T	ENST00000425675.2	-	3	220	c.160C>A	c.(160-162)Cca>Aca	p.P54T	ISOC2_ENST00000085068.3_Missense_Mutation_p.P54T|ISOC2_ENST00000438389.2_Intron			Q96AB3	ISOC2_HUMAN	isochorismatase domain containing 2	54					protein destabilization (GO:0031648)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			endometrium(1)|lung(4)|ovary(1)|stomach(1)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0535)		AGCATGACTGGCACCTCAAGC	0.667																																																0													8	9	9					19																	55967191		2149	4217	6366	SO:0001583	missense	79763			AK027122	CCDS12925.1, CCDS46194.1, CCDS46195.1	19q13.42	2011-07-14			ENSG00000063241	ENSG00000063241			26278	protein-coding gene	gene with protein product		612928				17658461	Standard	NM_024710		Approved	FLJ23469	uc002qla.3	Q96AB3		ENST00000425675.2:c.160C>A	chr19.hg19:g.55967191G>T	ENSP00000401726:p.Pro54Thr		Q6ZN91|Q9H5G0	Missense_Mutation	SNP	ENST00000425675.2	hg19	CCDS46195.1	.	.	.	.	.	.	.	.	.	.	G	16.39	3.109664	0.56398	.	.	ENSG00000063241	ENST00000085068;ENST00000425675	.	.	.	4.39	3.27	0.37495	Isochorismatase-like (3);	0.000000	0.85682	D	0.000000	T	0.80352	0.4607	M	0.91717	3.235	0.58432	D	0.999997	P;D	0.76494	0.956;0.999	P;D	0.66602	0.768;0.945	D	0.84554	0.0646	9	0.72032	D	0.01	-22.6752	12.0338	0.53412	0.0:0.0:0.8278:0.1722	.	54;54	Q96AB3;Q96AB3-2	ISOC2_HUMAN;.	T	54	.	ENSP00000085068:P54T	P	-	1	0	ISOC2	60659003	1.000000	0.71417	0.096000	0.21009	0.418000	0.31294	6.666000	0.74446	2.168000	0.68352	0.491000	0.48974	CCA		0.667	ISOC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453179.1	NM_024710		T	55967191	G	T	55967191	3	4	792	1	0	0	0	0	1	0	0	0	7865	1203	42	4	521	4	ISOC2	19	55967191	Missense_Mutation	SNP	G	TCGA-SX-A7SP-01A-11D-A34Z-10	3348373	55967191	3161792	72	47156											
ZSCAN1	284312	hgsc.bcm.edu	37	19	58549300	58549300	+	Missense_Mutation	SNP	G	G	T			TCGA-SX-A7SP-01A-11D-A34Z-10	TCGA-SX-A7SP-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6abb591-8bba-4022-b736-659828bb3947	68027171-3c57-48ce-b796-f96345b1c177	g.chr19:58549300G>T	ENST00000282326.1	+	3	343	c.96G>T	c.(94-96)agG>agT	p.R32S	ZSCAN1_ENST00000391700.1_Missense_Mutation_p.R32S|ZSCAN1_ENST00000601162.1_Missense_Mutation_p.R32S	NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	32					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)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		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;0.0152)		CAAGCCCCAGGGACACCGAAG	0.701																																																0													12	15	14					19																	58549300		2130	4230	6360	SO:0001583	missense	284312			AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"-", "Zinc fingers, C2H2-type"	23712	protein-coding gene	gene with protein product			"zinc finger with SCAN domain 1"			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.96G>T	chr19.hg19:g.58549300G>T	ENSP00000282326:p.Arg32Ser		Q3B798|Q6WLH8|Q86WS8	Missense_Mutation	SNP	ENST00000282326.1	hg19	CCDS12969.1	.	.	.	.	.	.	.	.	.	.	G	3.301	-0.142840	0.06669	.	.	ENSG00000152467	ENST00000391700;ENST00000282326	T;T	0.05513	3.43;3.43	1.7	-0.919	0.10478	Retrovirus capsid, C-terminal (1);	.	.	.	.	T	0.04724	0.0128	L	0.34521	1.04	0.09310	N	1	B;B	0.26318	0.146;0.01	B;B	0.32533	0.147;0.002	T	0.47169	-0.9138	9	0.21540	T	0.41	.	2.8776	0.05636	0.2013:0.2973:0.5015:0.0	.	32;32	Q8NBB4;Q8NBB4-2	ZSCA1_HUMAN;.	S	32	ENSP00000375581:R32S;ENSP00000282326:R32S	ENSP00000282326:R32S	R	+	3	2	ZSCAN1	63241112	0.004000	0.15560	0.000000	0.03702	0.002000	0.02628	1.259000	0.32956	-0.144000	0.11314	-0.287000	0.09952	AGG		0.701	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1	NM_182572		T	58549300	G	T	58549300	3	4	792	1	0	0	0	0	1	0	0	0	18231	1223	43	4	98	4	ZSCAN1	19	58549300	Missense_Mutation	SNP	G	TCGA-SX-A7SP-01A-11D-A34Z-10	2582109	58549300	579683	73	47157											
HNF4A	3172	hgsc.bcm.edu	37	20	43036091	43036091	+	Missense_Mutation	SNP	T	T	C			TCGA-SX-A7SP-01A-11D-A34Z-10	TCGA-SX-A7SP-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6abb591-8bba-4022-b736-659828bb3947	68027171-3c57-48ce-b796-f96345b1c177	g.chr20:43036091T>C	ENST00000316099.4	+	3	450	c.361T>C	c.(361-363)Ttc>Ctc	p.F121L	HNF4A_ENST00000316673.4_Missense_Mutation_p.F99L|HNF4A_ENST00000415691.2_Missense_Mutation_p.F121L|HNF4A_ENST00000457232.1_Missense_Mutation_p.F99L|MIR3646_ENST00000578301.1_RNA|HNF4A_ENST00000609795.1_Missense_Mutation_p.F99L|HNF4A_ENST00000443598.2_Missense_Mutation_p.F121L	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	121					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)			CAAGAAATGCTTCCGGGCTGG	0.602																																					Colon(79;2 1269 8820 14841 52347)											0													76	65	68					20																	43036091		2203	4300	6503	SO:0001583	missense	3172			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.361T>C	chr20.hg19:g.43036091T>C	ENSP00000312987:p.Phe121Leu		A5JW41|B2RPP8|O00659|O00723|Q14540|Q5QPB8|Q6B4V5|Q6B4V6|Q6B4V7|Q92653|Q92654|Q92655|Q99864|Q9NQH0	Missense_Mutation	SNP	ENST00000316099.4	hg19	CCDS13330.1	.	.	.	.	.	.	.	.	.	.	T	19.35	3.810261	0.70797	.	.	ENSG00000101076	ENST00000316673;ENST00000457232;ENST00000316099;ENST00000443598;ENST00000338692;ENST00000415691	D;D;D;D;D	0.96168	-3.93;-3.93;-3.93;-3.93;-3.93	5.69	5.69	0.88448	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (4);	0.088735	0.85682	D	0.000000	D	0.92714	0.7684	N	0.02736	-0.51	0.80722	D	1	D;P;P;D;D;D;B	0.89917	1.0;0.526;0.526;1.0;0.993;0.991;0.146	D;P;P;D;D;D;B	0.97110	1.0;0.557;0.557;1.0;0.951;0.919;0.174	D	0.90207	0.4261	10	0.08837	T	0.75	.	15.9429	0.79771	0.0:0.0:0.0:1.0	.	114;121;121;121;99;99;99	Q5QPB7;P41235;F1D8S2;P41235-3;F1D8T0;P41235-6;P41235-7	.;HNF4A_HUMAN;.;.;.;.;.	L	99;99;121;121;151;121	ENSP00000315180:F99L;ENSP00000396216:F99L;ENSP00000312987:F121L;ENSP00000410911:F121L;ENSP00000412111:F121L	ENSP00000312987:F121L	F	+	1	0	HNF4A	42469505	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.032000	0.88838	2.164000	0.68074	0.523000	0.50628	TTC		0.602	HNF4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079363.3			C	43036091	T	C	43036091	3	2	792	1	0	0	0	0	1	0	0	0	7255	1609	56	3	424	3	HNF4A	20	43036091	Missense_Mutation	SNP	T	TCGA-SX-A7SP-01A-11D-A34Z-10		43036091	19989429	74	47158											
PCK1	5105	hgsc.bcm.edu	37	20	56137207	56137207	+	Missense_Mutation	SNP	C	C	T			TCGA-SX-A7SP-01A-11D-A34Z-10	TCGA-SX-A7SP-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6abb591-8bba-4022-b736-659828bb3947	68027171-3c57-48ce-b796-f96345b1c177	g.chr20:56137207C>T	ENST00000319441.4	+	3	469	c.305C>T	c.(304-306)aCa>aTa	p.T102I	PCK1_ENST00000535860.1_Intron|PCK1_ENST00000543666.1_Intron	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	102					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)			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)			CAAAGAGACACAGTGCCCATC	0.542																																																0													103	91	95					20																	56137207		2203	4300	6503	SO:0001583	missense	5105				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.305C>T	chr20.hg19:g.56137207C>T	ENSP00000319814:p.Thr102Ile		A8K437|B4DT64|Q8TCA3|Q9UJD2	Missense_Mutation	SNP	ENST00000319441.4	hg19	CCDS13460.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.401418	0.83120	.	.	ENSG00000124253	ENST00000319441	T	0.11712	2.75	5.45	5.45	0.79879	Phosphoenolpyruvate carboxykinase, N-terminal (2);	0.091457	0.85682	D	0.000000	T	0.32645	0.0836	M	0.62088	1.915	0.80722	D	1	P	0.41748	0.761	P	0.60886	0.88	T	0.00690	-1.1608	10	0.87932	D	0	-7.538	19.2944	0.94117	0.0:1.0:0.0:0.0	.	102	P35558	PCKGC_HUMAN	I	102	ENSP00000319814:T102I	ENSP00000319814:T102I	T	+	2	0	PCK1	55570613	1.000000	0.71417	0.832000	0.32986	0.637000	0.38172	7.380000	0.79704	2.561000	0.86390	0.655000	0.94253	ACA		0.542	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079851.2			T	56137207	C	T	56137207	3	4	792	1	0	0	0	0	1	0	0	0	11583	478	17	2	311	2	PCK1	20	56137207	Missense_Mutation	SNP	C	TCGA-SX-A7SP-01A-11D-A34Z-10	13101116	56137207	6888313	75	47159											
ASCC2	84164	hgsc.bcm.edu	37	22	30188510	30188510	+	Missense_Mutation	SNP	G	G	C			TCGA-SX-A7SP-01A-11D-A34Z-10	TCGA-SX-A7SP-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6abb591-8bba-4022-b736-659828bb3947	68027171-3c57-48ce-b796-f96345b1c177	g.chr22:30188510G>C	ENST00000397771.2	-	19	2111	c.1934C>G	c.(1933-1935)cCt>cGt	p.P645R	ASCC2_ENST00000542393.1_Missense_Mutation_p.P569R|ASCC2_ENST00000307790.3_Missense_Mutation_p.P645R			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	645				P -> L (in Ref. 1; AAG45475). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			CAGCACCTGAGGGATGGTGAA	0.562																																																0													318	278	292					22																	30188510		2203	4300	6503	SO:0001583	missense	84164			AY013289	CCDS13869.1, CCDS56226.1	22q12.1	2004-07-27			ENSG00000100325	ENSG00000100325			24103	protein-coding gene	gene with protein product	"ASC 1 complex subunit P100"	614216				12077347, 9847074	Standard	NM_032204		Approved	ASC1p100, FLJ21588, DKFZp586O0223	uc003agr.3	Q9H1I8	OTTHUMG00000067658	ENST00000397771.2:c.1934C>G	chr22.hg19:g.30188510G>C	ENSP00000380877:p.Pro645Arg		B7Z8E0|F5H6J9|Q4TT54|Q8TAZ0|Q9H711|Q9H9D6	Missense_Mutation	SNP	ENST00000397771.2	hg19	CCDS13869.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.519705	0.85495	.	.	ENSG00000100325	ENST00000307790;ENST00000397771;ENST00000542393	T;T;T	0.10288	2.89;2.89;2.89	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.30324	0.0761	L	0.60845	1.875	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.00311	-1.1827	10	0.34782	T	0.22	-8.3081	17.9377	0.89018	0.0:0.0:1.0:0.0	.	569;645	F5H6J9;Q9H1I8	.;ASCC2_HUMAN	R	645;645;569	ENSP00000305502:P645R;ENSP00000380877:P645R;ENSP00000437570:P569R	ENSP00000305502:P645R	P	-	2	0	ASCC2	28518510	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.301000	0.89951	2.651000	0.90000	0.563000	0.77884	CCT		0.562	ASCC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322127.1	NM_032204		C	30188510	G	C	30188510	3	2	792	1	0	0	0	0	1	0	0	0	1032	1000	35	4	351	4	ASCC2	22	30188510	Missense_Mutation	SNP	G	TCGA-SX-A7SP-01A-11D-A34Z-10		30188510	21116056	76	47160											
FAM48B1	100130302	hgsc.bcm.edu	37	X	24382435	24382435	+	IGR	SNP	C	C	G			TCGA-SX-A7SP-01A-11D-A34Z-10	TCGA-SX-A7SP-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6abb591-8bba-4022-b736-659828bb3947	68027171-3c57-48ce-b796-f96345b1c177	g.chrX:24382435C>G								AC004552.1 (15412 upstream) : PDK3 (100902 downstream)																							tgctcctgctcctgctctagc	0.627																																																0													2	2	2					X																	24382435		1085	2493	3578	SO:0001628	intergenic_variant	100130302																															chrX.hg19:g.24382435C>G				Missense_Mutation	SNP		hg19																																																																																				0	0.627									G	24382435	C	G	24382435	1	3	792	0	1	0	0	0	0	0	0	0	5575	855	30	4		4	FAM48B1	23	24382435	IGR	SNP	C	TCGA-SX-A7SP-01A-11D-A34Z-10		24382435	130888125	77	47161											
DMD	1756	hgsc.bcm.edu	37	X	32486636	32486636	+	Missense_Mutation	SNP	C	C	G			TCGA-SX-A7SP-01A-11D-A34Z-10	TCGA-SX-A7SP-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6abb591-8bba-4022-b736-659828bb3947	68027171-3c57-48ce-b796-f96345b1c177	g.chrX:32486636C>G	ENST00000357033.4	-	23	3347	c.3141G>C	c.(3139-3141)atG>atC	p.M1047I	DMD_ENST00000378677.2_Missense_Mutation_p.M1043I	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	1047					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)				GGAGTTTATTCATTTGCTCCT	0.368																																																0													56	47	50					X																	32486636		2202	4299	6501	SO:0001583	missense	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.3141G>C	chrX.hg19:g.32486636C>G	ENSP00000354923:p.Met1047Ile		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	hg19	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	0.051	-1.249776	0.01469	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.32988	1.43;1.43	5.12	4.26	0.50523	.	0.000000	0.40554	U	0.001066	T	0.18635	0.0447	L	0.31065	0.9	0.80722	D	1	B;B;B	0.11235	0.001;0.004;0.0	B;B;B	0.09377	0.004;0.003;0.002	T	0.06338	-1.0832	10	0.11485	T	0.65	.	8.0396	0.30513	0.0:0.746:0.0:0.254	.	1039;1047;1043	P11532-4;P11532;E9PDN5	.;DMD_HUMAN;.	I	1039;1043;1047;1047;924	ENSP00000367948:M1043I;ENSP00000354923:M1047I	ENSP00000354923:M1047I	M	-	3	0	DMD	32396557	1.000000	0.71417	0.847000	0.33407	0.461000	0.32589	1.510000	0.35790	1.042000	0.40150	0.538000	0.68166	ATG		0.368	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		G	32486636	C	G	32486636	3	3	792	1	0	0	0	0	1	0	0	0	4582	826	29	4	8387	4	DMD	23	32486636	Missense_Mutation	SNP	C	TCGA-SX-A7SP-01A-11D-A34Z-10	8104201	32486636	122783924	78	47162											
KDM6A	7403	hgsc.bcm.edu	37	X	44949073	44949073	+	Nonsense_Mutation	SNP	C	C	T			TCGA-SX-A7SP-01A-11D-A34Z-10	TCGA-SX-A7SP-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6abb591-8bba-4022-b736-659828bb3947	68027171-3c57-48ce-b796-f96345b1c177	g.chrX:44949073C>T	ENST00000377967.4	+	25	3675	c.3634C>T	c.(3634-3636)Cag>Tag	p.Q1212*	KDM6A_ENST00000543216.1_Nonsense_Mutation_p.Q1133*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.Q1167*|KDM6A_ENST00000382899.4_Nonsense_Mutation_p.Q1219*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1212	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						TAGGTTTATTCAGCGACCTGG	0.398			"D, N, F, S"		"renal, oesophageal SCC, MM"																																Colon(129;1273 1667 15230 27352 52914)		Rec	yes		X	Xp11.2	7403	"lysine (K)-specific demethylase 6A, UTX"		"E, L"	6	Whole gene deletion(6)	oesophagus(2)|breast(2)|pancreas(2)											153	129	137					X																	44949073		2203	4300	6503	SO:0001587	stop_gained	7403			AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"Chromatin-modifying enzymes / K-demethylases", "Tetratricopeptide (TTC) repeat domain containing"	12637	protein-coding gene	gene with protein product		300128	"ubiquitously transcribed tetratricopeptide repeat, X chromosome"	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.3634C>T	chrX.hg19:g.44949073C>T	ENSP00000367203:p.Gln1212*		Q52LL9|Q5JVQ7	Nonsense_Mutation	SNP	ENST00000377967.4	hg19	CCDS14265.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	40|40	8.524194|8.524194	0.98848|0.98848	.|.	.|.	ENSG00000147050|ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216|ENST00000414389;ENST00000433797	.|.	.|.	.|.	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.74619	.|0.3740	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74009	.|-0.3802	.|3	0.87932|.	D|.	0|.	-7.8457|-7.8457	18.2517|18.2517	0.90006|0.90006	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	909;1212;1167;1219;1133|809;854	.|.	ENSP00000334340:Q909X|.	Q|S	+|+	1|2	0|0	KDM6A|KDM6A	44834017|44834017	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.396000|7.396000	0.79891|0.79891	2.249000|2.249000	0.74217|0.74217	0.468000|0.468000	0.43344|0.43344	CAG|TCA		0.398	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140		T	44949073	C	T	44949073	4	4	792	1	0	0	0	0	0	1	0	0	8139	827	29	2	3732	2	KDM6A	23	44949073	Nonsense_Mutation	SNP	C	TCGA-SX-A7SP-01A-11D-A34Z-10	12462437	44949073	110321487	79	47163											
RLIM	51132	hgsc.bcm.edu	37	X	73811367	73811367	+	Missense_Mutation	SNP	G	G	T			TCGA-SX-A7SP-01A-11D-A34Z-10	TCGA-SX-A7SP-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6abb591-8bba-4022-b736-659828bb3947	68027171-3c57-48ce-b796-f96345b1c177	g.chrX:73811367G>T	ENST00000332687.6	-	4	2001	c.1783C>A	c.(1783-1785)Cac>Aac	p.H595N	RLIM_ENST00000349225.2_Missense_Mutation_p.H595N	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	595					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						TCGATGCAGTGGACATGGTAC	0.398																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)											0													138	110	119					X																	73811367		2203	4300	6503	SO:0001583	missense	51132			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.1783C>A	chrX.hg19:g.73811367G>T	ENSP00000328059:p.His595Asn		B2RBQ1|D3DTE0|Q96D38|Q9Y598	Missense_Mutation	SNP	ENST00000332687.6	hg19	CCDS14427.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.846145	0.51164	.	.	ENSG00000131263	ENST00000332687;ENST00000349225	T;T	0.67345	-0.26;-0.26	5.41	4.53	0.55603	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, RING-H2-type (1);	0.047424	0.85682	D	0.000000	T	0.68403	0.2997	N	0.11927	0.2	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.74054	-0.3788	10	0.62326	D	0.03	-15.4496	15.294	0.73888	0.0:0.1368:0.8632:0.0	.	595	Q9NVW2	RNF12_HUMAN	N	595	ENSP00000328059:H595N;ENSP00000253571:H595N	ENSP00000328059:H595N	H	-	1	0	RLIM	73728092	1.000000	0.71417	0.985000	0.45067	0.989000	0.77384	9.416000	0.97383	1.038000	0.40049	0.600000	0.82982	CAC		0.398	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		T	73811367	G	T	73811367	3	4	792	1	0	0	0	0	1	0	0	0	13396	1348	47	4	95	4	RLIM	23	73811367	Missense_Mutation	SNP	G	TCGA-SX-A7SP-01A-11D-A34Z-10	28862294	73811367	81459193	80	47164											
SMARCA1	6594	hgsc.bcm.edu	37	X	128614706	128614706	+	Missense_Mutation	SNP	A	A	G			TCGA-SX-A7SP-01A-11D-A34Z-10	TCGA-SX-A7SP-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6abb591-8bba-4022-b736-659828bb3947	68027171-3c57-48ce-b796-f96345b1c177	g.chrX:128614706A>G	ENST00000371122.4	-	19	2543	c.2414T>C	c.(2413-2415)cTt>cCt	p.L805P	SMARCA1_ENST00000371121.3_Missense_Mutation_p.L793P|SMARCA1_ENST00000371123.1_Missense_Mutation_p.L793P	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	805					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						CCGATAATAAAGAATTTCCTT	0.323																																																0													57	56	57					X																	128614706		2203	4300	6503	SO:0001583	missense	6594			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.2414T>C	chrX.hg19:g.128614706A>G	ENSP00000360163:p.Leu805Pro		Q5JV41|Q5JV42	Missense_Mutation	SNP	ENST00000371122.4	hg19	CCDS14612.1	.	.	.	.	.	.	.	.	.	.	A	18.22	3.575258	0.65878	.	.	ENSG00000102038	ENST00000371121;ENST00000371123;ENST00000371122;ENST00000450039	D;D;D;D	0.91740	-2.9;-2.9;-2.9;-2.9	4.96	4.96	0.65561	ATPase, nucleosome remodelling ISWI, HAND domain (2);	0.000000	0.53938	D	0.000048	D	0.94886	0.8347	M	0.68952	2.095	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.71414	0.973;0.973;0.955;0.973	D	0.94695	0.7877	10	0.49607	T	0.09	-11.6576	13.7875	0.63119	1.0:0.0:0.0:0.0	.	784;805;793;805	E9PCY3;B7ZLQ5;P28370-2;P28370	.;.;.;SMCA1_HUMAN	P	793;793;805;784	ENSP00000360162:L793P;ENSP00000360164:L793P;ENSP00000360163:L805P;ENSP00000404275:L784P	ENSP00000360162:L793P	L	-	2	0	SMARCA1	128442387	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.278000	0.95766	1.630000	0.50440	0.430000	0.28490	CTT		0.323	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	NM_003069		G	128614706	A	G	128614706	3	3	792	1	0	0	0	0	1	0	0	0	14774	72	3	3	774	3	SMARCA1	23	128614706	Missense_Mutation	SNP	A	TCGA-SX-A7SP-01A-11D-A34Z-10	54803339	128614706	26655854	81	47165											
TMEM51	55092	hgsc.bcm.edu	37	1	15545967	15545967	+	Silent	SNP	C	C	T			TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr1:15545967C>T	ENST00000428417.1	+	3	936	c.490C>T	c.(490-492)Ctg>Ttg	p.L164L	TMEM51_ENST00000434578.2_3'UTR|TMEM51_ENST00000376014.3_Silent_p.L164L|TMEM51_ENST00000400796.3_Silent_p.L164L|TMEM51_ENST00000376008.2_Silent_p.L164L	NM_001136217.1	NP_001129689.1	Q9NW97	TMM51_HUMAN	transmembrane protein 51	164						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(3)|large_intestine(2)|lung(5)|prostate(2)	14		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)		CTATGAGTCACTGACGGGGCT	0.587																																																0													79	78	79					1																	15545967		2203	4300	6503	SO:0001819	synonymous_variant	55092			AK098467	CCDS154.1	1p36.21	2008-02-05	2005-05-22	2005-05-22	ENSG00000171729	ENSG00000171729			25488	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 72"	C1orf72		12477932	Standard	NM_018022		Approved	FLJ10199	uc001avx.3	Q9NW97	OTTHUMG00000002046	ENST00000428417.1:c.490C>T	chr1.hg19:g.15545967C>T			A8K819	Silent	SNP	ENST00000428417.1	hg19	CCDS154.1																																																																																				0.587	TMEM51-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005699.3	NM_018022		T	15545967	C	T	15545967	2	4	793	1	0	0	0	0	0	0	0	1	16182	564	20	2		2	TMEM51	1	15545967	Silent	SNP	C	TCGA-SX-A7SQ-01A-12D-A35Z-10		15545967	233704654	1	47166											
PRPF38B	55119	hgsc.bcm.edu	37	1	109235289	109235289	+	Missense_Mutation	SNP	C	C	A			TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr1:109235289C>A	ENST00000370025.4	+	1	345	c.76C>A	c.(76-78)Cag>Aag	p.Q26K	PRPF38B_ENST00000370021.1_5'UTR|PRPF38B_ENST00000370022.5_Missense_Mutation_p.Q26K|PRPF38B_ENST00000467302.1_3'UTR	NM_018061.2	NP_060531.2	Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	26					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		ggctcagcaacagcagcagtg	0.672																																																0													18	17	18					1																	109235289		2019	4001	6020	SO:0001583	missense	55119			AL833950	CCDS788.1	1p13.3	2013-10-03	2013-10-03		ENSG00000134186	ENSG00000134186			25512	protein-coding gene	gene with protein product			"PRP38 pre-mRNA processing factor 38 (yeast) domain containing B"				Standard	NM_018061		Approved	FLJ10330, NET1	uc001dvv.4	Q5VTL8	OTTHUMG00000010991	ENST00000370025.4:c.76C>A	chr1.hg19:g.109235289C>A	ENSP00000359042:p.Gln26Lys		Q05DD6|Q32Q58|Q5VTL9|Q6PK39|Q7Z6E2|Q86WF3|Q8IWG9|Q9NW40	Missense_Mutation	SNP	ENST00000370025.4	hg19	CCDS788.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.853346	0.51270	.	.	ENSG00000134186	ENST00000370025;ENST00000370022	.	.	.	5.46	3.54	0.40534	.	0.326350	0.26241	N	0.025513	T	0.17746	0.0426	N	0.14661	0.345	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.08889	-1.0700	9	0.11182	T	0.66	.	10.7726	0.46332	0.1297:0.8012:0.0:0.0691	.	26	Q5VTL8	PR38B_HUMAN	K	26	.	ENSP00000359039:Q26K	Q	+	1	0	PRPF38B	109036812	1.000000	0.71417	0.998000	0.56505	0.640000	0.38277	2.843000	0.48238	1.271000	0.44313	0.462000	0.41574	CAG		0.672	PRPF38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030231.1	NM_018061		A	109235289	C	A	109235289	3	1	793	1	0	0	0	0	1	0	0	0	12573	479	17	4	78	4	PRPF38B	1	109235289	Missense_Mutation	SNP	C	TCGA-SX-A7SQ-01A-12D-A35Z-10	93689322	109235289	140015332	2	47167											
TOMM40L	84134	hgsc.bcm.edu	37	1	161197092	161197092	+	Silent	SNP	T	T	C			TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr1:161197092T>C	ENST00000367988.3	+	4	497	c.228T>C	c.(226-228)taT>taC	p.Y76Y	TOMM40L_ENST00000545897.1_Silent_p.Y76Y|TOMM40L_ENST00000367987.1_Silent_p.Y76Y|NR1I3_ENST00000479324.1_5'Flank|MIR5187_ENST00000583479.1_RNA|TOMM40L_ENST00000474486.1_Intron	NM_032174.4	NP_115550.2	Q969M1	TM40L_HUMAN	translocase of outer mitochondrial membrane 40 homolog (yeast)-like	76					ion transport (GO:0006811)|protein transport (GO:0015031)	mitochondrial outer membrane (GO:0005741)|pore complex (GO:0046930)|protein complex (GO:0043234)	porin activity (GO:0015288)			large_intestine(2)|liver(4)|lung(4)	10	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TGCCGGGATATCACCTCCATG	0.557											OREG0013943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													86	80	82					1																	161197092		2203	4300	6503	SO:0001819	synonymous_variant	84134				CCDS1227.1, CCDS65700.1	1q23.3	2008-02-05	2007-01-12		ENSG00000158882	ENSG00000158882			25756	protein-coding gene	gene with protein product			"translocase of outer mitochondrial membrane 40 homolog-like (yeast)"				Standard	NM_032174		Approved	FLJ12770, TOMM40B	uc001fzd.3	Q969M1	OTTHUMG00000034345	ENST00000367988.3:c.228T>C	chr1.hg19:g.161197092T>C		1814	B7Z4U0|D3DVG9	Silent	SNP	ENST00000367988.3	hg19	CCDS1227.1																																																																																				0.557	TOMM40L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083029.1	NM_032174		C	161197092	T	C	161197092	2	2	793	1	0	0	0	0	0	0	0	1	16364	1442	50	3		3	TOMM40L	1	161197092	Silent	SNP	T	TCGA-SX-A7SQ-01A-12D-A35Z-10	51961803	161197092	88053529	3	47168											
FCRLB	127943	hgsc.bcm.edu	37	1	161695843	161695843	+	Silent	SNP	C	C	A			TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr1:161695843C>A	ENST00000367948.2	+	6	755	c.540C>A	c.(538-540)ccC>ccA	p.P180P	FCRLB_ENST00000336830.5_Silent_p.P180P|FCRLB_ENST00000495397.1_3'UTR|FCRLB_ENST00000367944.3_Silent_p.P173P|FCRLB_ENST00000367946.3_Silent_p.P180P|FCRLB_ENST00000392158.1_Silent_p.P180P|FCRLB_ENST00000367945.1_Silent_p.P173P			Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	180	Ig-like C2-type 2.				negative regulation of immune response (GO:0050777)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			AGAGCGCGCCCATGTTCTCCG	0.632											OREG0013944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													35	37	36					1																	161695843		2203	4300	6503	SO:0001819	synonymous_variant	127943			AY670683	CCDS30927.1, CCDS72962.1, CCDS72963.1, CCDS72964.1, CCDS72965.1	1q23.3	2013-01-11	2006-09-26	2006-09-26	ENSG00000162746	ENSG00000162746		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	26431	protein-coding gene	gene with protein product		609251	"Fc receptor-like and mucin-like 2"	FCRLM2		15676285	Standard	NM_001288829		Approved	FLJ31052, FCRL2, FREB-2, FCRLY	uc001gbi.3	Q6BAA4	OTTHUMG00000133629	ENST00000367948.2:c.540C>A	chr1.hg19:g.161695843C>A		1818	A2A3J5|A2A3J7|Q5VXA6|Q6BAA0|Q6BAA1|Q6BAA2|Q6BAA3|Q8IXZ7	Silent	SNP	ENST00000367948.2	hg19	CCDS30927.1																																																																																				0.632	FCRLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083585.1	NM_152378		A	161695843	C	A	161695843	2	1	793	1	0	0	0	0	0	0	0	1	5803	581	21	4		4	FCRLB	1	161695843	Silent	SNP	C	TCGA-SX-A7SQ-01A-12D-A35Z-10	498751	161695843	87554778	4	47169											
LHX4	89884	hgsc.bcm.edu	37	1	180243426	180243426	+	Silent	SNP	A	A	G			TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr1:180243426A>G	ENST00000263726.2	+	6	1129	c.885A>G	c.(883-885)acA>acG	p.T295T	RP5-1180C10.2_ENST00000415414.1_RNA|RP5-1180C10.2_ENST00000440959.2_RNA	NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN	LIM homeobox 4	295					medial motor column neuron differentiation (GO:0021526)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|placenta development (GO:0001890)|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)			endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						TGGACGGGACAGGACAATCCT	0.527																																																0													128	114	119					1																	180243426		2203	4300	6503	SO:0001819	synonymous_variant	89884			AB037683	CCDS1338.1	1q25.3	2011-06-20			ENSG00000121454	ENSG00000121454		"Homeoboxes / LIM class"	21734	protein-coding gene	gene with protein product		602146				11844481, 11567216	Standard	NM_033343		Approved	Gsh4	uc001goe.2	Q969G2	OTTHUMG00000035115	ENST00000263726.2:c.885A>G	chr1.hg19:g.180243426A>G			Q8NHE0|Q8NHM1|Q8TCJ1|Q8WWX2|Q969W2	Silent	SNP	ENST00000263726.2	hg19	CCDS1338.1																																																																																				0.527	LHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084995.2	NM_033343		G	180243426	A	G	180243426	2	3	793	1	0	0	0	0	0	0	0	1	8775	175	7	3		3	LHX4	1	180243426	Silent	SNP	A	TCGA-SX-A7SQ-01A-12D-A35Z-10	18547583	180243426	69007195	5	47170											
ABCB10	23456	hgsc.bcm.edu	37	1	229685017	229685017	+	Missense_Mutation	SNP	C	C	T			TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr1:229685017C>T	ENST00000344517.4	-	2	724	c.682G>A	c.(682-684)Gcc>Acc	p.A228T	RNA5SP78_ENST00000364622.1_RNA	NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	228	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)				ATGGCATTGGCGGCAGCACCA	0.522																																																0													99	89	92					1																	229685017		2203	4300	6503	SO:0001583	missense	23456			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.682G>A	chr1.hg19:g.229685017C>T	ENSP00000355637:p.Ala228Thr		Q13040|Q6P1Q8|Q9H3V0	Missense_Mutation	SNP	ENST00000344517.4	hg19	CCDS1580.1	.	.	.	.	.	.	.	.	.	.	C	34	5.382531	0.95967	.	.	ENSG00000135776	ENST00000344517	D	0.89050	-2.46	5.62	5.62	0.85841	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.92299	0.7557	M	0.71871	2.18	0.80722	D	1	D	0.60575	0.988	P	0.52823	0.71	D	0.92507	0.6013	10	0.59425	D	0.04	-22.1817	19.6592	0.95857	0.0:1.0:0.0:0.0	.	228	Q9NRK6	ABCBA_HUMAN	T	228	ENSP00000355637:A228T	ENSP00000355637:A228T	A	-	1	0	ABCB10	227751640	1.000000	0.71417	0.817000	0.32601	0.547000	0.35210	5.749000	0.68704	2.653000	0.90120	0.655000	0.94253	GCC		0.522	ABCB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095240.1	NM_012089		T	229685017	C	T	229685017	3	4	793	1	0	0	0	0	1	0	0	0	41	768	27	1	1582	1	ABCB10	1	229685017	Missense_Mutation	SNP	C	TCGA-SX-A7SQ-01A-12D-A35Z-10	49441591	229685017	19565604	6	47171											
RGS7	6000	hgsc.bcm.edu	37	1	240978050	240978050	+	Missense_Mutation	SNP	T	T	C			TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr1:240978050T>C	ENST00000407727.1	-	11	810	c.811A>G	c.(811-813)Aga>Gga	p.R271G	RGS7_ENST00000348120.2_Missense_Mutation_p.R218G|RGS7_ENST00000331110.7_Missense_Mutation_p.R245G|RGS7_ENST00000446183.2_Missense_Mutation_p.R187G|RGS7_ENST00000366565.1_Missense_Mutation_p.R271G|RGS7_ENST00000401882.1_Missense_Mutation_p.R218G|RGS7_ENST00000366562.4_Missense_Mutation_p.R271G|RGS7_ENST00000366563.1_Missense_Mutation_p.R271G|RGS7_ENST00000366564.1_Missense_Mutation_p.R271G			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	271	G protein gamma.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			AACCGATGTCTATCTAACTGT	0.289																																																0													107	112	110					1																	240978050		2202	4298	6500	SO:0001583	missense	6000			BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"Regulators of G-protein signaling"	10003	protein-coding gene	gene with protein product		602517	"regulator of G-protein signalling 7"			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.811A>G	chr1.hg19:g.240978050T>C	ENSP00000384428:p.Arg271Gly		Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Missense_Mutation	SNP	ENST00000407727.1	hg19		.	.	.	.	.	.	.	.	.	.	T	19.36	3.812134	0.70797	.	.	ENSG00000182901	ENST00000331110;ENST00000366565;ENST00000366564;ENST00000366563;ENST00000440928;ENST00000348120;ENST00000446183;ENST00000366562;ENST00000407727;ENST00000401882	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	6.06	4.87	0.63330	G-protein gamma domain (4);	0.000000	0.85682	D	0.000000	T	0.54967	0.1891	M	0.80616	2.505	0.54753	D	0.999984	D;D;D;D;D;P;D	0.71674	0.998;0.993;0.996;0.998;0.991;0.859;0.993	D;D;D;D;D;P;D	0.73708	0.981;0.964;0.966;0.967;0.939;0.681;0.964	T	0.59920	-0.7363	10	0.72032	D	0.01	-4.1718	11.3806	0.49754	0.0:0.0:0.272:0.728	.	187;245;218;271;271;271;271	B7Z223;B7Z257;P49802-4;P49802-2;P49802-5;P49802-3;P49802	.;.;.;.;.;.;RGS7_HUMAN	G	245;271;271;271;102;218;187;271;271;218	ENSP00000331485:R245G;ENSP00000355523:R271G;ENSP00000355522:R271G;ENSP00000355521:R271G;ENSP00000404399:R102G;ENSP00000341242:R218G;ENSP00000390138:R187G;ENSP00000355520:R271G;ENSP00000384428:R271G;ENSP00000385508:R218G	ENSP00000331485:R245G	R	-	1	2	RGS7	239044673	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.064000	0.41432	2.324000	0.78689	0.533000	0.62120	AGA		0.289	RGS7-204	KNOWN	basic	protein_coding	protein_coding		NM_002924		C	240978050	T	C	240978050	3	2	793	1	0	0	0	0	1	0	0	0	13316	1530	53	3	680	3	RGS7	1	240978050	Missense_Mutation	SNP	T	TCGA-SX-A7SQ-01A-12D-A35Z-10	11293033	240978050	8272571	7	47172											
OR2C3	81472	hgsc.bcm.edu	37	1	247695079	247695079	+	Missense_Mutation	SNP	G	G	T			TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr1:247695079G>T	ENST00000366487.3	-	2	1096	c.735C>A	c.(733-735)caC>caA	p.H245Q	GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000527084.1_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	245						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)			CCACAGCCACGTGGGAAGAAC	0.547																																																0													131	119	123					1																	247695079		2203	4300	6503	SO:0001583	missense	81472			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.735C>A	chr1.hg19:g.247695079G>T	ENSP00000355443:p.His245Gln		Q5JQS4|Q6IEZ1|Q8NGW7	Missense_Mutation	SNP	ENST00000366487.3	hg19	CCDS1634.2	.	.	.	.	.	.	.	.	.	.	G	12.13	1.846827	0.32606	.	.	ENSG00000196242	ENST00000366487	T	0.00307	8.17	3.75	-2.12	0.07165	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37483	U	0.002072	T	0.00845	0.0028	H	0.97023	3.925	0.18873	N	0.999989	D	0.89917	1.0	D	0.81914	0.995	T	0.20739	-1.0266	10	0.87932	D	0	.	9.1023	0.36676	0.6294:0.0:0.3706:0.0	.	245	Q8N628	OR2C3_HUMAN	Q	245	ENSP00000355443:H245Q	ENSP00000355443:H245Q	H	-	3	2	OR2C3	245761702	0.280000	0.24249	0.237000	0.24090	0.318000	0.28184	0.023000	0.13533	-0.600000	0.05790	0.650000	0.86243	CAC		0.547	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097626.2	NM_198074		T	247695079	G	T	247695079	3	4	793	1	0	0	0	0	1	0	0	0	10995	1136	40	4	231	4	OR2C3	1	247695079	Missense_Mutation	SNP	G	TCGA-SX-A7SQ-01A-12D-A35Z-10	6717029	247695079	1555542	8	47173											
TMEM178	130733	hgsc.bcm.edu	37	2	39934204	39934204	+	Missense_Mutation	SNP	C	C	T			TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr2:39934204C>T	ENST00000281961.2	+	3	586	c.530C>T	c.(529-531)aCt>aTt	p.T177I	TMEM178A_ENST00000482239.1_3'UTR	NM_152390.2	NP_689603.2	Q8NBL3	T178A_HUMAN	transmembrane protein 178A	177						integral component of membrane (GO:0016021)											AGAAGAATCACTGCTGGCTTC	0.463																																																0													81	74	77					2																	39934204		2203	4300	6503	SO:0001583	missense	130733			BC029530	CCDS1804.1	2p22.1	2012-06-29	2012-06-29	2012-06-29	ENSG00000152154	ENSG00000152154			28517	protein-coding gene	gene with protein product			"transmembrane protein 178"	TMEM178		12975309	Standard	NM_001167959		Approved	MGC33926	uc002rrt.3	Q8NBL3	OTTHUMG00000128591	ENST00000281961.2:c.530C>T	chr2.hg19:g.39934204C>T	ENSP00000281961:p.Thr177Ile		Q6UWI6|Q8N6N4	Missense_Mutation	SNP	ENST00000281961.2	hg19	CCDS1804.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.713634	0.89112	.	.	ENSG00000152154	ENST00000281961	T	0.69926	-0.44	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.80529	0.4640	M	0.69823	2.125	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.80621	-0.1301	9	.	.	.	-10.8653	16.2261	0.82293	0.0:1.0:0.0:0.0	.	177	Q8NBL3	TM178_HUMAN	I	177	ENSP00000281961:T177I	.	T	+	2	0	TMEM178	39787708	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	6.942000	0.75928	2.437000	0.82529	0.655000	0.94253	ACT		0.463	TMEM178A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250445.2	NM_152390		T	39934204	C	T	39934204	3	4	793	1	0	0	0	0	1	0	0	0	16100	565	20	2	540	2	TMEM178	2	39934204	Missense_Mutation	SNP	C	TCGA-SX-A7SQ-01A-12D-A35Z-10		39934204	203265169	9	47174											
MSH2	4436	hgsc.bcm.edu	37	2	47641475	47641475	+	Missense_Mutation	SNP	G	G	C	rs587782567		TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr2:47641475G>C	ENST00000233146.2	+	5	1083	c.860G>C	c.(859-861)gGa>gCa	p.G287A	MSH2_ENST00000543555.1_Missense_Mutation_p.G221A|MSH2_ENST00000406134.1_Missense_Mutation_p.G287A	NM_000251.2	NP_000242.1	P43246	MSH2_HUMAN	mutS homolog 2	287			Missing (in HNPCC1). {ECO:0000269|PubMed:9718327}.		ATP catabolic process (GO:0006200)|B cell differentiation (GO:0030183)|B cell mediated immunity (GO:0019724)|cell cycle arrest (GO:0007050)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|intra-S DNA damage checkpoint (GO:0031573)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|isotype switching (GO:0045190)|maintenance of DNA repeat elements (GO:0043570)|male gonad development (GO:0008584)|meiotic gene conversion (GO:0006311)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reciprocal meiotic recombination (GO:0045128)|oxidative phosphorylation (GO:0006119)|positive regulation of helicase activity (GO:0051096)|postreplication repair (GO:0006301)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSalpha complex (GO:0032301)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|guanine/thymine mispair binding (GO:0032137)|heteroduplex DNA loop binding (GO:0000404)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|Y-form DNA binding (GO:0000403)	p.0?(2)|p.?(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TCCAACTTTGGACAGTTTGAA	0.323			"D, Mis, N, F, S"		"colorectal, endometrial, ovarian"	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p22-p21	4436	mutS homolog 2 (E. coli)		E	3	Whole gene deletion(2)|Unknown(1)	haematopoietic_and_lymphoid_tissue(3)											69	68	68					2																	47641475		2203	4298	6501	SO:0001583	missense	4436	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U03911	CCDS1834.1, CCDS58709.1	2p21	2014-09-17	2013-09-12		ENSG00000095002	ENSG00000095002			7325	protein-coding gene	gene with protein product		609309	"mutS (E. coli) homolog 2 (colon cancer, nonpolyposis type 1)", "mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)"	COCA1		8484120, 9843200	Standard	NM_000251		Approved	HNPCC, HNPCC1	uc002rvy.2	P43246	OTTHUMG00000128861	ENST00000233146.2:c.860G>C	chr2.hg19:g.47641475G>C	ENSP00000233146:p.Gly287Ala		B4E2Z2|O75488	Missense_Mutation	SNP	ENST00000233146.2	hg19	CCDS1834.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.085776	0.76642	.	.	ENSG00000095002	ENST00000233146;ENST00000543555;ENST00000406134;ENST00000419559;ENST00000432737;ENST00000453755;ENST00000448533;ENST00000394792	D;D;D	0.92858	-3.12;-3.12;-3.12	5.14	4.27	0.50696	DNA mismatch repair protein MutS, connector (1);	0.135085	0.52532	D	0.000064	D	0.96439	0.8838	M	0.92555	3.32	0.58432	D	0.999999	D;D;D	0.65815	0.977;0.987;0.995	P;P;D	0.64321	0.565;0.86;0.924	D	0.96993	0.9723	10	0.87932	D	0	-11.4068	13.6716	0.62430	0.075:0.0:0.925:0.0	.	287;287;287	E7EQQ1;E9PHA6;P43246	.;.;MSH2_HUMAN	A	287;221;287;287;287;287;287;287	ENSP00000233146:G287A;ENSP00000442697:G221A;ENSP00000384199:G287A	ENSP00000233146:G287A	G	+	2	0	MSH2	47494979	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	4.225000	0.58600	1.179000	0.42884	0.591000	0.81541	GGA		0.323	MSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250805.3			C	47641475	G	C	47641475	3	2	793	1	0	0	0	0	1	0	0	0	9872	1174	41	4	878	4	MSH2	2	47641475	Missense_Mutation	SNP	G	TCGA-SX-A7SQ-01A-12D-A35Z-10	7707271	47641475	195557898	10	47175											
ZNF638	27332	hgsc.bcm.edu	37	2	71661907	71661907	+	Silent	SNP	G	G	A			TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr2:71661907G>A	ENST00000409544.1	+	28	6537	c.5907G>A	c.(5905-5907)caG>caA	p.Q1969Q	ZNF638_ENST00000355812.3_3'UTR|ZNF638_ENST00000264447.4_Silent_p.Q1969Q|ZNF638_ENST00000409407.1_Silent_p.Q909Q	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1969					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						AAAAGGAGCAGAATGAGGCTG	0.338																																																0													72	85	80					2																	71661907		2203	4300	6503	SO:0001819	synonymous_variant	27332			D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"RNA binding motif (RRM) containing"	17894	protein-coding gene	gene with protein product		614349	"zinc finger, matrin-like"	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.5907G>A	chr2.hg19:g.71661907G>A			B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Silent	SNP	ENST00000409544.1	hg19	CCDS1917.1																																																																																				0.338	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		A	71661907	G	A	71661907	2	1	793	1	0	0	0	0	0	0	0	1	18060	933	33	2		2	ZNF638	2	71661907	Silent	SNP	G	TCGA-SX-A7SQ-01A-12D-A35Z-10	24020432	71661907	171537466	11	47176											
IWS1	55677	hgsc.bcm.edu	37	2	128262338	128262338	+	Nonsense_Mutation	SNP	C	C	A			TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr2:128262338C>A	ENST00000295321.4	-	3	1400	c.1141G>T	c.(1141-1143)Gaa>Taa	p.E381*	IWS1_ENST00000455721.2_Nonsense_Mutation_p.E388*|AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000486662.1_5'Flank	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	381	Glu-rich.				mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of histone H3-K36 trimethylation (GO:2001253)|regulation of histone H4 acetylation (GO:0090239)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		CCCTCTTTTTCATCTTCATCA	0.418																																																0													319	320	319					2																	128262338		2203	4300	6503	SO:0001587	stop_gained	55677			AK000868	CCDS2146.1	2q14.3	2006-03-17			ENSG00000163166	ENSG00000163166			25467	protein-coding gene	gene with protein product							Standard	NM_017969		Approved	DKFZp761G0123, FLJ10006, FLJ14655, FLJ32319	uc002ton.2	Q96ST2	OTTHUMG00000131527	ENST00000295321.4:c.1141G>T	chr2.hg19:g.128262338C>A	ENSP00000295321:p.Glu381*		Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8	Nonsense_Mutation	SNP	ENST00000295321.4	hg19	CCDS2146.1	.	.	.	.	.	.	.	.	.	.	C	33	5.266173	0.95399	.	.	ENSG00000163166	ENST00000295321;ENST00000433551;ENST00000455721	.	.	.	5.58	5.58	0.84498	.	0.258394	0.39687	N	0.001284	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	-16.8485	14.4121	0.67121	0.1475:0.8525:0.0:0.0	.	.	.	.	X	381;334;388	.	ENSP00000295321:E381X	E	-	1	0	IWS1	127978808	0.953000	0.32496	0.997000	0.53966	0.091000	0.18340	2.826000	0.48104	2.617000	0.88574	0.563000	0.77884	GAA		0.418	IWS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254384.2	NM_017969		A	128262338	C	A	128262338	4	1	793	1	0	0	0	0	0	1	0	0	7933	835	29	4	1366	4	IWS1	2	128262338	Nonsense_Mutation	SNP	C	TCGA-SX-A7SQ-01A-12D-A35Z-10	56600431	128262338	114937035	12	47177											
FAM128A	653784	hgsc.bcm.edu	37	2	132249824	132249824	+	Silent	SNP	C	C	T			TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr2:132249824C>T	ENST00000309451.6	-	1	171	c.126G>A	c.(124-126)gaG>gaA	p.E42E	MZT2A_ENST00000410036.2_Intron|MIR4784_ENST00000579560.1_RNA|AC093838.4_ENST00000438378.2_RNA	NM_001085365.1	NP_001078834.1	Q6P582	MZT2A_HUMAN	mitotic spindle organizing protein 2A	42				EEMELYELAQAAGGGIDPDVFK -> LQGGGRAGRRGLTGP ASVPAR (in Ref. 2; AAI04651). {ECO:0000305}.		centrosome (GO:0005813)|gamma-tubulin ring complex (GO:0008274)|spindle (GO:0005819)				breast(1)|lung(1)	2						CCTGAGCCAGCTCGTACAGCT	0.741																																																0													8	13	11					2																	132249824		2150	4263	6413	SO:0001819	synonymous_variant	653784			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.126G>A	chr2.hg19:g.132249824C>T			Q3SWV8|Q8WVB2	Silent	SNP	ENST00000309451.6	hg19	CCDS42758.1																																																																																				0.741	MZT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331811.2			T	132249824	C	T	132249824	2	4	793	1	0	0	0	0	0	0	0	1	5436	796	28	2		2	FAM128A	2	132249824	Silent	SNP	C	TCGA-SX-A7SQ-01A-12D-A35Z-10	3987486	132249824	110949549	13	47178											
FZD5	7855	hgsc.bcm.edu	37	2	208633223	208633223	+	Missense_Mutation	SNP	C	C	T			TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr2:208633223C>T	ENST00000295417.3	-	2	794	c.241G>A	c.(241-243)Gac>Aac	p.D81N		NM_003468.3	NP_003459.2	Q13467	FZD5_HUMAN	frizzled class receptor 5	81	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				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)		AAGCGCAGGTCCGGCGAGCAT	0.652																																																0													81	69	73					2																	208633223		2203	4300	6503	SO:0001583	missense	7855			U43318	CCDS33366.1	2q33.3	2014-01-29	2014-01-29		ENSG00000163251	ENSG00000163251		"GPCR / Class F : Frizzled receptors"	4043	protein-coding gene	gene with protein product		601723	"frizzled (Drosophila) homolog 5", "chromosome 2 open reading frame 31", "frizzled homolog 5 (Drosophila)", "frizzled 5, seven transmembrane spanning receptor", "frizzled family receptor 5"	C2orf31		8626800, 11408929	Standard	NM_003468		Approved	HFZ5, DKFZP434E2135	uc002vcj.3	Q13467	OTTHUMG00000154790	ENST00000295417.3:c.241G>A	chr2.hg19:g.208633223C>T	ENSP00000354607:p.Asp81Asn		A8K2X1|B2RCZ1|Q53R22	Missense_Mutation	SNP	ENST00000295417.3	hg19	CCDS33366.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.612375	0.87258	.	.	ENSG00000163251	ENST00000295417	T	0.75938	-0.98	4.61	4.61	0.57282	Frizzled domain (5);	0.000000	0.85682	D	0.000000	D	0.86339	0.5909	M	0.82517	2.595	0.80722	D	1	D	0.61697	0.99	D	0.65323	0.934	D	0.89078	0.3474	10	0.87932	D	0	.	17.0784	0.86592	0.0:1.0:0.0:0.0	.	81	Q13467	FZD5_HUMAN	N	81	ENSP00000354607:D81N	ENSP00000354607:D81N	D	-	1	0	FZD5	208341468	0.999000	0.42202	1.000000	0.80357	0.993000	0.82548	4.046000	0.57376	2.126000	0.65437	0.561000	0.74099	GAC		0.652	FZD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337060.1	NM_003468		T	208633223	C	T	208633223	3	4	793	1	0	0	0	0	1	0	0	0	6135	855	30	2	1520	2	FZD5	2	208633223	Missense_Mutation	SNP	C	TCGA-SX-A7SQ-01A-12D-A35Z-10	76383399	208633223	34566150	14	47179											
CLASP2	23122	hgsc.bcm.edu	37	3	33557518	33557518	+	Missense_Mutation	SNP	C	C	A			TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr3:33557518C>A	ENST00000468888.2	-	36	4177	c.4131G>T	c.(4129-4131)aaG>aaT	p.K1377N	CLASP2_ENST00000480013.1_Missense_Mutation_p.K1156N|CLASP2_ENST00000461133.3_Missense_Mutation_p.K1136N|CLASP2_ENST00000359576.5_Missense_Mutation_p.K1368N|CLASP2_ENST00000307312.7_Missense_Mutation_p.K858N|CLASP2_ENST00000539981.1_3'UTR|CLASP2_ENST00000399362.4_Missense_Mutation_p.K1376N			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	1157					axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						AACTTACCTCCTTATGAGGAT	0.323																																																0													104	98	100					3																	33557518		1834	4083	5917	SO:0001583	missense	23122			AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.4131G>T	chr3.hg19:g.33557518C>A	ENSP00000419974:p.Lys1377Asn		Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Missense_Mutation	SNP	ENST00000468888.2	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.28|17.28	3.350574|3.350574	0.61183|0.61183	.|.	.|.	ENSG00000163539|ENSG00000163539	ENST00000487553|ENST00000468888;ENST00000399362;ENST00000359576;ENST00000307312;ENST00000480013;ENST00000461133	.|T;T;T;T;T;T	.|0.65732	.|-0.17;-0.17;-0.17;-0.17;-0.17;-0.17	5.56|5.56	0.42|0.42	0.16444|0.16444	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.74496	.|0.3724	M|M	0.77616|0.77616	2.38|2.38	0.58432|0.58432	D|D	0.999991|0.999991	.|D;D	.|0.89917	.|1.0;0.976	.|D;D	.|0.83275	.|0.996;0.93	.|T	.|0.71593	.|-0.4546	.|10	.|0.37606	.|T	.|0.19	-10.8924|-10.8924	10.4753|10.4753	0.44661|0.44661	0.0:0.5725:0.0:0.4275|0.0:0.5725:0.0:0.4275	.|.	.|1368;1376	.|F5H604;E7ERI8	.|.;.	X|N	152|1377;1376;1368;858;1156;1136	.|ENSP00000419974:K1377N;ENSP00000382297:K1376N;ENSP00000352581:K1368N;ENSP00000304743:K858N;ENSP00000417518:K1156N;ENSP00000419305:K1136N	.|ENSP00000304743:K858N	G|K	-|-	1|3	0|2	CLASP2|CLASP2	33532522|33532522	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.965000|0.965000	0.64279|0.64279	0.692000|0.692000	0.25482|0.25482	0.130000|0.130000	0.18549|0.18549	-0.251000|-0.251000	0.11542|0.11542	GGA|AAG		0.323	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000344320.4	NM_001207044		A	33557518	C	A	33557518	3	1	793	1	0	0	0	0	1	0	0	0	3457	680	24	4	429	4	CLASP2	3	33557518	Missense_Mutation	SNP	C	TCGA-SX-A7SQ-01A-12D-A35Z-10		33557518	164464912	15	47180											
GLYCTK	132158	hgsc.bcm.edu	37	3	52325107	52325107	+	Missense_Mutation	SNP	T	T	C			TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr3:52325107T>C	ENST00000436784.2	+	3	569	c.509T>C	c.(508-510)cTg>cCg	p.L170P	GLYCTK_ENST00000471180.1_Missense_Mutation_p.L43P|GLYCTK_ENST00000354773.4_Missense_Mutation_p.L170P|GLYCTK-AS1_ENST00000493616.1_RNA|GLYCTK_ENST00000461183.1_Missense_Mutation_p.L86P|GLYCTK_ENST00000477382.1_Missense_Mutation_p.L170P|GLYCTK_ENST00000473032.1_Missense_Mutation_p.L170P|GLYCTK_ENST00000305690.8_Missense_Mutation_p.L170P			Q8IVS8	GLCTK_HUMAN	glycerate kinase	170			L -> V (in dbSNP:rs35130772).		protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glycerate kinase activity (GO:0008887)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)		GCTGATGACCTGCTGCTCGTG	0.607																																																0													75	55	62					3																	52325107		2203	4300	6503	SO:0001583	missense	132158				CCDS2852.1, CCDS46841.1	3p21.1	2008-01-22			ENSG00000168237	ENSG00000168237	2.7.1.31		24247	protein-coding gene	gene with protein product		610516				16753811	Standard	NM_145262		Approved	HBEBP4, HBEBP2	uc003ddo.3	Q8IVS8	OTTHUMG00000158380	ENST00000436784.2:c.509T>C	chr3.hg19:g.52325107T>C	ENSP00000389175:p.Leu170Pro		Q0P630|Q2EZ43|Q6Y2K6|Q7Z6G5|Q86YR8|Q8TED2|Q8WTY2	Missense_Mutation	SNP	ENST00000436784.2	hg19	CCDS2852.1	.	.	.	.	.	.	.	.	.	.	T	18.53	3.643459	0.67244	.	.	ENSG00000168237	ENST00000461183;ENST00000473032;ENST00000305690;ENST00000354773;ENST00000471180;ENST00000436784;ENST00000477382	T;T;T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59;0.59;0.59	5.29	4.1	0.47936	.	0.082341	0.52532	D	0.000075	T	0.70150	0.3191	M	0.74467	2.265	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.993	D;D;P	0.80764	0.994;0.991;0.906	T	0.71941	-0.4440	10	0.62326	D	0.03	-7.0727	12.2235	0.54447	0.0:0.0:0.1428:0.8572	.	170;170;170	Q8IVS8-2;Q8IVS8-4;Q8IVS8	.;.;GLCTK_HUMAN	P	86;170;170;170;43;170;170	ENSP00000417264:L86P;ENSP00000418951:L170P;ENSP00000301965:L170P;ENSP00000346825:L170P;ENSP00000417526:L43P;ENSP00000389175:L170P;ENSP00000419008:L170P	ENSP00000301965:L170P	L	+	2	0	GLYCTK	52300147	1.000000	0.71417	0.989000	0.46669	0.848000	0.48234	7.489000	0.81451	0.813000	0.34350	0.533000	0.62120	CTG		0.607	GLYCTK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350835.1	NM_145262		C	52325107	T	C	52325107	3	2	793	1	0	0	0	0	1	0	0	0	6484	1580	55	3	515	3	GLYCTK	3	52325107	Missense_Mutation	SNP	T	TCGA-SX-A7SQ-01A-12D-A35Z-10	18767589	52325107	145697323	16	47181											
RPN1	6184	hgsc.bcm.edu	37	3	128356918	128356918	+	Frame_Shift_Del	DEL	A	A	-			TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr3:128356918delA	ENST00000296255.3	-	3	405	c.357delT	c.(355-357)gttfs	p.V119fs	RPN1_ENST00000497289.1_5'UTR	NM_002950.3	NP_002941.1	P04843	RPN1_HUMAN	ribophorin I	119					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)		GATCAAGAGCAACTGGGAGCT	0.458			T	EVI1	AML																																		Dom	yes		3	3q21.3-q25.2	6184	ribophorin I		L	0													88	78	81					3																	128356918		2203	4300	6503	SO:0001589	frameshift_variant	6184				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.357delT	chr3.hg19:g.128356918delA	ENSP00000296255:p.Val119fs		B2R5Z0|D3DNB6|Q68DT1	Frame_Shift_Del	DEL	ENST00000296255.3	hg19	CCDS3051.1																																																																																				0.458	RPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356934.2	NM_002950		-	128356918	A	-	128356918	7	5	793	1	0	1	0	1	0	0	0	0	13613	117	5	0	1498	0	RPN1	3	128356918	Frame_Shift_Del	DEL	A	TCGA-SX-A7SQ-01A-12D-A35Z-10	76031811	128356918	69665512	17	47182											
ZIC1	7545	hgsc.bcm.edu	37	3	147128271	147128272	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr3:147128271_147128272GG>TT	ENST00000282928.4	+	1	1101_1102	c.372_373GG>TT	c.(370-375)tcGGcc>tcTTcc	p.A125S		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	125					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S124S(1)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						TTGCTGCATCGGCCGGGGGCTT	0.713																																																1	Substitution - coding silent(1)	lung(1)																																								SO:0001583	missense	7545			D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"Zinc fingers, C2H2-type"	12872	protein-coding gene	gene with protein product		600470	"Zic family member 1 (odd-paired Drosophila homolog)", "Zic family member 1 (odd-paired homolog, Drosophila)"			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	Exception_encountered	chr3.hg19:g.147128271_147128272delinsTT	ENSP00000282928:p.Ala125Ser		Q2M3N1	Silent|Missense_Mutation	SNP	ENST00000282928.4	hg19	CCDS3136.1																																																																																				0.713	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		TT	147128272	GG	TT	147128271	3	4	793	1	0	0	0	0	1	0	0	0	17683	1103	39	4	374	4	ZIC1	3	147128271	Missense_Mutation	DNP	GG	TCGA-SX-A7SQ-01A-12D-A35Z-10	18771353	147128271	50894159	18	47183											
ECT2	1894	hgsc.bcm.edu	37	3	172533501	172533501	+	Splice_Site	SNP	G	G	C			TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr3:172533501G>C	ENST00000392692.3	+	23	2684	c.2508G>C	c.(2506-2508)aaG>aaC	p.K836N	ECT2_ENST00000417960.1_Splice_Site_p.K804N|ECT2_ENST00000232458.5_Splice_Site_p.K805N|ECT2_ENST00000427830.1_Splice_Site_p.K805N|ECT2_ENST00000441497.2_Splice_Site_p.K805N|ECT2_ENST00000540509.1_Splice_Site_p.K836N	NM_001258315.1	NP_001245244.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2	836					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)			CTTCAAAAAAGGTGAGTTTTA	0.289																																																0													58	64	62					3																	172533501		2199	4284	6483	SO:0001630	splice_region_variant	1894			AA206473	CCDS3220.1, CCDS58860.1	3q26.1-q26.2	2014-03-11	2014-03-11		ENSG00000114346	ENSG00000114346		"Rho guanine nucleotide exchange factors"	3155	protein-coding gene	gene with protein product		600586	"epithelial cell transforming sequence 2 oncogene"			8464478, 10579713	Standard	NM_018098		Approved	ARHGEF31	uc003fil.2	Q9H8V3	OTTHUMG00000156762	ENST00000392692.3:c.2508+1G>C	chr3.hg19:g.172533501G>C			Q0MT80|Q2M269|Q6U836|Q9NSV8|Q9NVW9	Missense_Mutation	SNP	ENST00000392692.3	hg19	CCDS58860.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.8|20.8	4.053607|4.053607	0.75960|0.75960	.|.	.|.	ENSG00000114346|ENSG00000114346	ENST00000437296|ENST00000232458;ENST00000392692;ENST00000427830;ENST00000417960;ENST00000441497;ENST00000540509	.|T;T;T;T;T;T	.|0.72615	.|-0.6;-0.66;-0.67;-0.6;-0.6;-0.66	5.54|5.54	4.66|4.66	0.58398|0.58398	.|.	.|0.174934	.|0.64402	.|D	.|0.000010	T|T	0.77471|0.77471	0.4135|0.4135	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	.|P;P;D;D;P	.|0.61697	.|0.929;0.875;0.99;0.99;0.923	.|P;P;D;D;P	.|0.66602	.|0.77;0.77;0.945;0.945;0.885	T|T	0.78809|0.78809	-0.2058|-0.2058	5|10	.|0.87932	.|D	.|0	-3.9212|-3.9212	10.3168|10.3168	0.43743|0.43743	0.1502:0.0:0.8498:0.0|0.1502:0.0:0.8498:0.0	.|.	.|836;281;836;805;804	.|Q9H8V3;Q96SJ9;Q9H8V3-3;G5E9L8;Q9H8V3-2	.|ECT2_HUMAN;.;.;.;.	R|N	176|805;836;805;804;805;836	.|ENSP00000232458:K805N;ENSP00000376457:K836N;ENSP00000401910:K805N;ENSP00000415876:K804N;ENSP00000412259:K805N;ENSP00000443160:K836N	.|ENSP00000232458:K805N	G|K	+|+	1|3	0|2	ECT2|ECT2	174016195|174016195	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.863000|0.863000	0.49368|0.49368	5.829000|5.829000	0.69316|0.69316	1.323000|1.323000	0.45263|0.45263	0.591000|0.591000	0.81541|0.81541	GGT|AAG		0.289	ECT2-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345994.2	NM_018098	Missense_Mutation	C	172533501	G	C	172533501	5	2	793	1	0	0	0	0	0	0	1	0	4903	1014	35	4	2497	4	ECT2	3	172533501	Splice_Site	SNP	G	TCGA-SX-A7SQ-01A-12D-A35Z-10	25405230	172533501	25488929	19	47184											
LRPAP1	4043	hgsc.bcm.edu	37	4	3519844	3519845	+	Frame_Shift_Ins	INS	-	-	C			TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr4:3519844_3519845insC	ENST00000500728.2	-	5	813_814	c.667_668insG	c.(667-669)gagfs	p.E223fs	LRPAP1_ENST00000296325.5_5'UTR	NM_002337.3	NP_002328.1	P30533	AMRP_HUMAN	low density lipoprotein receptor-related protein associated protein 1	223					extracellular negative regulation of signal transduction (GO:1900116)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of protein binding (GO:0032091)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|protein folding (GO:0006457)|receptor-mediated endocytosis (GO:0006898)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|rough endoplasmic reticulum lumen (GO:0048237)|vesicle (GO:0031982)	asialoglycoprotein receptor activity (GO:0004873)|heparin binding (GO:0008201)|low-density lipoprotein particle receptor binding (GO:0050750)|receptor antagonist activity (GO:0048019)|unfolded protein binding (GO:0051082)|very-low-density lipoprotein particle receptor binding (GO:0070326)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)		CTCCTTCAGCTCCGTGTGCCTG	0.634																																																0																																										SO:0001589	frameshift_variant	4043				CCDS3371.1	4p16.3	2008-05-02	2003-03-17		ENSG00000163956	ENSG00000163956			6701	protein-coding gene	gene with protein product		104225	"low density lipoprotein-related protein-associated protein 1 (alpha-2-macroglobulin receptor-associated protein 1)"	A2MRAP		1712782	Standard	NM_002337		Approved	HBP44	uc003ghh.4	P30533	OTTHUMG00000090299	ENST00000500728.2:c.668dupG	chr4.hg19:g.3519846_3519846dupC	ENSP00000421922:p.Glu223fs		D3DVR9|Q2M310|Q53HQ3|Q53HS6	Frame_Shift_Ins	INS	ENST00000500728.2	hg19	CCDS3371.1																																																																																				0.634	LRPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206659.4			C	3519845	-	C	3519844	7	5	793	1	0	1	1	0	0	0	0	0	8966	1551	54	0	421	0	LRPAP1	4	3519844	Frame_Shift_Ins	INS	-	TCGA-SX-A7SQ-01A-12D-A35Z-10		3519844	187634432	20	47185											
BOD1L	259282	hgsc.bcm.edu	37	4	13605423	13605423	+	Frame_Shift_Del	DEL	T	T	-			TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr4:13605423delT	ENST00000040738.5	-	10	3236	c.3101delA	c.(3100-3102)aagfs	p.K1035fs		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1035	Lys-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)										TTCGTCCTTCTTTTTTATGTC	0.368																																																0													161	171	167					4																	13605423		2203	4300	6503	SO:0001589	frameshift_variant	259282			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.3101delA	chr4.hg19:g.13605423delT	ENSP00000040738:p.Lys1035fs		Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Frame_Shift_Del	DEL	ENST00000040738.5	hg19	CCDS3411.2																																																																																				0.368	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		-	13605423	T	-	13605423	7	5	793	1	0	1	0	1	0	0	0	0	1483	1609	56	0	6122	0	BOD1L	4	13605423	Frame_Shift_Del	DEL	T	TCGA-SX-A7SQ-01A-12D-A35Z-10	10085579	13605423	177548853	21	47186											
SHISA3	152573	hgsc.bcm.edu	37	4	42400234	42400234	+	Missense_Mutation	SNP	C	C	A			TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr4:42400234C>A	ENST00000319234.4	+	1	379	c.161C>A	c.(160-162)aCc>aAc	p.T54N		NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN	shisa family member 3	54					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						CTGGACGCTACCATCTGCTGC	0.692																																																0													21	20	21					4																	42400234		2199	4297	6496	SO:0001583	missense	152573			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.161C>A	chr4.hg19:g.42400234C>A	ENSP00000326445:p.Thr54Asn		A0PJX3|Q96EQ5	Missense_Mutation	SNP	ENST00000319234.4	hg19	CCDS33979.1	.	.	.	.	.	.	.	.	.	.	C	11.36	1.615227	0.28801	.	.	ENSG00000178343	ENST00000319234	T	0.42900	0.96	4.22	3.36	0.38483	.	0.156200	0.40144	N	0.001169	T	0.32941	0.0846	L	0.39898	1.24	0.47621	D	0.999473	B	0.17667	0.023	B	0.21708	0.036	T	0.07908	-1.0748	10	0.16896	T	0.51	-9.6593	12.9256	0.58258	0.164:0.8359:0.0:0.0	.	54	A0PJX4	SHSA3_HUMAN	N	54	ENSP00000326445:T54N	ENSP00000326445:T54N	T	+	2	0	SHISA3	42094991	0.998000	0.40836	1.000000	0.80357	0.290000	0.27261	3.071000	0.50041	0.943000	0.37553	0.467000	0.42956	ACC		0.692	SHISA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363539.1	NM_001080505		A	42400234	C	A	42400234	3	1	793	1	0	0	0	0	1	0	0	0	14287	507	18	4	163	4	SHISA3	4	42400234	Missense_Mutation	SNP	C	TCGA-SX-A7SQ-01A-12D-A35Z-10	28794811	42400234	148754042	22	47187											
DDX60	55601	hgsc.bcm.edu	37	4	169204723	169204723	+	Silent	SNP	C	C	A			TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr4:169204723C>A	ENST00000393743.3	-	13	1887	c.1596G>T	c.(1594-1596)gtG>gtT	p.V532V		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	532					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)		GATACTTTTGCACAGATCTAA	0.308																																																0													58	61	60					4																	169204723		2203	4300	6503	SO:0001819	synonymous_variant	55601			AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.1596G>T	chr4.hg19:g.169204723C>A			Q6PK35|Q9NVE3	Silent	SNP	ENST00000393743.3	hg19	CCDS34097.1																																																																																				0.308	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631		A	169204723	C	A	169204723	2	1	793	1	0	0	0	0	0	0	0	1	4380	697	25	4		4	DDX60	4	169204723	Silent	SNP	C	TCGA-SX-A7SQ-01A-12D-A35Z-10	126804489	169204723	21949553	23	47188			1	129		2	2	17	C		4.496498e-05
DDX60	55601	hgsc.bcm.edu	37	4	169204739	169204739	+	Missense_Mutation	SNP	C	C	T			TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr4:169204739C>T	ENST00000393743.3	-	13	1871	c.1580G>A	c.(1579-1581)cGt>cAt	p.R527H		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	527					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)		TCTAAGAACACGAGGGTCTCT	0.313																																																0													52	54	53					4																	169204739		2203	4300	6503	SO:0001583	missense	55601			AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.1580G>A	chr4.hg19:g.169204739C>T	ENSP00000377344:p.Arg527His		Q6PK35|Q9NVE3	Missense_Mutation	SNP	ENST00000393743.3	hg19	CCDS34097.1	.	.	.	.	.	.	.	.	.	.	C	4.070	0.010749	0.07912	.	.	ENSG00000137628	ENST00000393743	T	0.18174	2.23	3.89	-6.27	0.02026	.	1.776030	0.03004	N	0.148595	T	0.07818	0.0196	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.32745	-0.9895	10	0.11182	T	0.66	.	10.0525	0.42225	0.1034:0.2118:0.0:0.6847	.	527	Q8IY21	DDX60_HUMAN	H	527	ENSP00000377344:R527H	ENSP00000377344:R527H	R	-	2	0	DDX60	169441314	0.000000	0.05858	0.000000	0.03702	0.119000	0.20118	-2.385000	0.01062	-1.814000	0.01224	-0.261000	0.10672	CGT		0.313	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631		T	169204739	C	T	169204739	3	4	793	1	0	0	0	0	1	0	0	0	4380	536	19	1	3662	1	DDX60	4	169204739	Missense_Mutation	SNP	C	TCGA-SX-A7SQ-01A-12D-A35Z-10	16	169204739	21949537	24	47189			1	129		2	2	17	C		4.496498e-05
SPCS3	60559	hgsc.bcm.edu	37	4	177249348	177249348	+	Splice_Site	DEL	G	G	-			TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr4:177249348delG	ENST00000503362.1	+	5	523		c.e5-1		SPCS3_ENST00000507001.1_Splice_Site	NM_021928.3	NP_068747.1	P61009	SPCS3_HUMAN	signal peptidase complex subunit 3 homolog (S. cerevisiae)						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 (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|signal peptidase complex (GO:0005787)	peptidase activity (GO:0008233)			ovary(2)	2		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.43e-19)|Epithelial(43;1.84e-16)|OV - Ovarian serous cystadenocarcinoma(60;4.51e-09)|GBM - Glioblastoma multiforme(59;0.000142)|STAD - Stomach adenocarcinoma(60;0.00279)|LUSC - Lung squamous cell carcinoma(193;0.0319)		TCTTTTTATAGGGGAAACAGG	0.358																																																0													122	107	112					4																	177249348		1838	4081	5919	SO:0001630	splice_region_variant	60559			AK092634	CCDS54823.1	4q34.2	2008-02-05				ENSG00000129128			26212	protein-coding gene	gene with protein product						12477932	Standard	NM_021928		Approved	FLJ22649, SPC22/23, SPC3, YLR066W, PRO3567	uc003iur.4	P61009		ENST00000503362.1:c.411-1G>-	chr4.hg19:g.177249348delG			P12280|Q9H0S7	Splice_Site	DEL	ENST00000503362.1	hg19	CCDS54823.1																																																																																				0.358	SPCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362329.1	NM_021928	Intron	-	177249348	G	-	177249348	8	5	793	1	0	1	0	1	0	0	1	0	15030	1014	35	0	428	0	SPCS3	4	177249348	Splice_Site	DEL	G	TCGA-SX-A7SQ-01A-12D-A35Z-10	8044609	177249348	13904928	25	47190											
GPX8	493869	hgsc.bcm.edu	37	5	54456223	54456223	+	Splice_Site	SNP	A	A	G			TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr5:54456223A>G	ENST00000503787.1	+	1	278	c.203A>G	c.(202-204)aAa>aGa	p.K68R	GPX8_ENST00000296734.6_Splice_Site_p.K68R|CDC20B_ENST00000296733.1_Intron|CDC20B_ENST00000334206.5_Intron|CDC20B_ENST00000322374.6_Intron|GPX8_ENST00000515370.1_Intron|GPX8_ENST00000506123.1_3'UTR|CDC20B_ENST00000381375.2_Intron|CDC20B_ENST00000331730.3_Intron	NM_001008397.2	NP_001008398.2	Q8TED1	GPX8_HUMAN	glutathione peroxidase 8 (putative)	68					response to oxidative stress (GO:0006979)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	glutathione peroxidase activity (GO:0004602)|peroxidase activity (GO:0004601)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)	11					Glutathione(DB00143)	TATAAAGGCAAAGTAAGTTGC	0.308																																																0													66	66	66					5																	54456223		2203	4300	6503	SO:0001630	splice_region_variant	493869			BC029424	CCDS34156.1	5q11.2	2008-09-29				ENSG00000164294			33100	protein-coding gene	gene with protein product							Standard	NM_001008397		Approved	UNQ847, EPLA847	uc003jpq.2	Q8TED1		ENST00000503787.1:c.204+1A>G	chr5.hg19:g.54456223A>G				Missense_Mutation	SNP	ENST00000503787.1	hg19	CCDS34156.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.213873	0.79352	.	.	ENSG00000164294	ENST00000503787;ENST00000296734	T	0.06933	3.24	5.93	4.68	0.58851	Thioredoxin-like fold (2);	0.041745	0.85682	N	0.000000	T	0.14442	0.0349	M	0.80746	2.51	0.80722	D	1	B	0.16603	0.018	B	0.23716	0.048	T	0.01367	-1.1373	10	0.62326	D	0.03	.	10.1162	0.42591	0.9045:0.0:0.0955:0.0	.	68	Q8TED1	GPX8_HUMAN	R	68	ENSP00000423822:K68R	ENSP00000296734:K68R	K	+	2	0	GPX8	54491980	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.069000	0.57541	0.926000	0.37118	0.533000	0.62120	AAA		0.308	GPX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369717.1	NM_001008397	Missense_Mutation	G	54456223	A	G	54456223	5	3	793	1	0	0	0	0	0	0	1	0	6748	28	1	3	205	3	GPX8	5	54456223	Splice_Site	SNP	A	TCGA-SX-A7SQ-01A-12D-A35Z-10		54456223	126459037	26	47191											
THBS4	7060	hgsc.bcm.edu	37	5	79374755	79374755	+	Missense_Mutation	SNP	T	T	G			TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr5:79374755T>G	ENST00000350881.2	+	18	2467	c.2277T>G	c.(2275-2277)atT>atG	p.I759M	THBS4_ENST00000504720.1_3'UTR|THBS4_ENST00000511733.1_Missense_Mutation_p.I668M|CTD-2201I18.1_ENST00000503007.1_RNA|CTD-2201I18.1_ENST00000514042.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	759	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GCATGGAGATTGTACAGACCA	0.498																																																0													115	103	107					5																	79374755		2203	4300	6503	SO:0001583	missense	7060				CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.2277T>G	chr5.hg19:g.79374755T>G	ENSP00000339730:p.Ile759Met		B2R909|Q86TG2	Missense_Mutation	SNP	ENST00000350881.2	hg19	CCDS4049.1	.	.	.	.	.	.	.	.	.	.	T	18.52	3.641809	0.67244	.	.	ENSG00000113296	ENST00000350881;ENST00000511733	D;D	0.96522	-4.04;-4.04	5.06	-3.5	0.04710	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Thrombospondin, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.97617	0.9219	M	0.88450	2.955	0.58432	D	0.999993	D	0.76494	0.999	D	0.91635	0.999	D	0.96356	0.9262	10	0.87932	D	0	-21.232	11.3397	0.49525	0.0:0.3915:0.0:0.6085	.	759	P35443	TSP4_HUMAN	M	759;668	ENSP00000339730:I759M;ENSP00000422298:I668M	ENSP00000339730:I759M	I	+	3	3	THBS4	79410511	0.687000	0.27671	0.973000	0.42090	0.993000	0.82548	-0.279000	0.08479	-0.685000	0.05177	-0.256000	0.11100	ATT		0.498	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1			G	79374755	T	G	79374755	3	3	793	1	0	0	0	0	1	0	0	0	15861	1800	63	5	2347	5	THBS4	5	79374755	Missense_Mutation	SNP	T	TCGA-SX-A7SQ-01A-12D-A35Z-10	24918532	79374755	101540505	27	47192											
PCDHGB2	56103	hgsc.bcm.edu	37	5	140742098	140742098	+	Missense_Mutation	SNP	C	C	A			TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr5:140742098C>A	ENST00000522605.1	+	1	2396	c.2396C>A	c.(2395-2397)cCt>cAt	p.P799H	PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_5'Flank|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	799					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGGGTCCCTTTTGCCTCA	0.413																																																0													61	61	61					5																	140742098		1820	4083	5903	SO:0001583	missense	56103			AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"Cadherins / Protocadherins : Clustered"	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.2396C>A	chr5.hg19:g.140742098C>A	ENSP00000429018:p.Pro799His		Q3MIJ3|Q9UN65	Missense_Mutation	SNP	ENST00000522605.1	hg19	CCDS54924.1	.	.	.	.	.	.	.	.	.	.	.	10.02	1.236268	0.22626	.	.	ENSG00000253910	ENST00000522605	T	0.50001	0.76	4.99	3.02	0.34903	.	.	.	.	.	T	0.35913	0.0948	N	0.14661	0.345	0.09310	N	1	D;P	0.54964	0.969;0.883	P;B	0.50970	0.655;0.346	T	0.08472	-1.0720	9	0.42905	T	0.14	.	5.6077	0.17389	0.1625:0.668:0.0:0.1694	.	799;799	Q9Y5G2-2;Q9Y5G2	.;PCDGE_HUMAN	H	799	ENSP00000429018:P799H	ENSP00000429018:P799H	P	+	2	0	PCDHGB2	140722282	0.000000	0.05858	0.008000	0.14137	0.084000	0.17831	0.900000	0.28431	2.301000	0.77427	0.467000	0.42956	CCT		0.413	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374741.1	NM_018923		A	140742098	C	A	140742098	3	1	793	1	0	0	0	0	1	0	0	0	11565	681	24	4	2398	4	PCDHGB2	5	140742098	Missense_Mutation	SNP	C	TCGA-SX-A7SQ-01A-12D-A35Z-10	61367343	140742098	40173162	28	47193											
EXOC2	55770	hgsc.bcm.edu	37	6	532588	532588	+	Missense_Mutation	SNP	T	T	G			TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr6:532588T>G	ENST00000230449.4	-	23	2396	c.2261A>C	c.(2260-2262)gAa>gCa	p.E754A	EXOC2_ENST00000448181.3_Missense_Mutation_p.E349A	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	754					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		TTGATCTAGTTCTTTCAATGA	0.348																																																0													107	105	105					6																	532588		2203	4300	6503	SO:0001583	missense	55770			AJ420556	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685			24968	protein-coding gene	gene with protein product		615329	"SEC5-like 1 (S. cerevisiae)"	SEC5L1		12575951, 12459492	Standard	NM_018303		Approved	FLJ11026, Sec5p	uc003mtd.4	Q96KP1	OTTHUMG00000137437	ENST00000230449.4:c.2261A>C	chr6.hg19:g.532588T>G	ENSP00000230449:p.Glu754Ala		B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Missense_Mutation	SNP	ENST00000230449.4	hg19	CCDS34327.1	.	.	.	.	.	.	.	.	.	.	T	14.96	2.690808	0.48097	.	.	ENSG00000112685	ENST00000230449;ENST00000448181	T;T	0.24151	1.87;1.87	5.77	5.77	0.91146	.	0.147993	0.64402	D	0.000014	T	0.09905	0.0243	L	0.29908	0.895	0.58432	D	0.999993	B	0.11235	0.004	B	0.12837	0.008	T	0.11203	-1.0597	10	0.17832	T	0.49	-5.4577	16.383	0.83481	0.0:0.0:0.0:1.0	.	754	Q96KP1	EXOC2_HUMAN	A	754;349	ENSP00000230449:E754A;ENSP00000398113:E349A	ENSP00000230449:E754A	E	-	2	0	EXOC2	477588	1.000000	0.71417	0.992000	0.48379	0.979000	0.70002	4.771000	0.62318	2.326000	0.78906	0.533000	0.62120	GAA		0.348	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039627.1	NM_018303		G	532588	T	G	532588	3	3	793	1	0	0	0	0	1	0	0	0	5304	1783	62	5	537	5	EXOC2	6	532588	Missense_Mutation	SNP	T	TCGA-SX-A7SQ-01A-12D-A35Z-10		532588	170582479	29	47194											
DSP	1832	hgsc.bcm.edu	37	6	7578720	7578720	+	Silent	SNP	C	C	T			TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr6:7578720C>T	ENST00000379802.3	+	22	3350	c.3009C>T	c.(3007-3009)taC>taT	p.Y1003Y	DSP_ENST00000418664.2_Silent_p.Y1003Y	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1003	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)		ATGCTCGGTACATTGAACTAC	0.343																																																0													140	143	142					6																	7578720		2203	4300	6503	SO:0001819	synonymous_variant	1832			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.3009C>T	chr6.hg19:g.7578720C>T			B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Silent	SNP	ENST00000379802.3	hg19	CCDS4501.1																																																																																				0.343	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		T	7578720	C	T	7578720	2	4	793	1	0	0	0	0	0	0	0	1	4783	489	17	2		2	DSP	6	7578720	Silent	SNP	C	TCGA-SX-A7SQ-01A-12D-A35Z-10	7046132	7578720	163536347	30	47195											
PGC	5225	hgsc.bcm.edu	37	6	41712422	41712423	+	Missense_Mutation	DNP	TC	TC	AG			TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	T|C	T|C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr6:41712422_41712423TC>AG	ENST00000373025.3	-	2	245_246	c.183_184GA>CT	c.(181-186)gtGAcc>gtCTcc	p.T62S	PGC_ENST00000425343.2_Missense_Mutation_p.T62S	NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	progastricsin (pepsinogen C)	62					digestion (GO:0007586)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			GGCTCGTAGGTCACGCTGAGGT	0.579																																																0																																										SO:0001583	missense	5225				CCDS4859.1, CCDS55000.1	6p21.1	2012-10-02			ENSG00000096088	ENSG00000096088	3.4.23.3		8890	protein-coding gene	gene with protein product		169740					Standard	NM_002630		Approved		uc003ora.2	P20142	OTTHUMG00000014683	ENST00000373025.3:c.183_184delinsAG	chr6.hg19:g.41712422_41712423delinsAG	ENSP00000362116:p.Thr62Ser		B4DVZ3|Q5T3D7|Q5T3D8	Missense_Mutation|Silent	SNP	ENST00000373025.3	hg19	CCDS4859.1																																																																																				0.579	PGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040521.2			AG	41712423	TC	AG	41712422	3	1	793	1	0	0	0	0	1	0	0	0	11787	1667	58	5	1323	5	PGC	6	41712422	Missense_Mutation	DNP	TC	TCGA-SX-A7SQ-01A-12D-A35Z-10	34133702	41712422	129402645	31	47196											
EFHC1	114327	hgsc.bcm.edu	37	6	52357086	52357086	+	Missense_Mutation	SNP	C	C	G			TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr6:52357086C>G	ENST00000371068.5	+	11	1973	c.1870C>G	c.(1870-1872)Cat>Gat	p.H624D	EFHC1_ENST00000433625.2_Intron|EFHC1_ENST00000538167.1_Missense_Mutation_p.H605D	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	624						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)					GATGTGCTCTCATGGAGAAGG	0.423																																																0													120	102	108					6																	52357086		2203	4300	6503	SO:0001583	missense	114327			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.1870C>G	chr6.hg19:g.52357086C>G	ENSP00000360107:p.His624Asp		B4DMU3|F5GZD8|Q5XKM4|Q6E1U7|Q6E1U8|Q8WUL2|Q9NVW6	Missense_Mutation	SNP	ENST00000371068.5	hg19	CCDS4942.1	.	.	.	.	.	.	.	.	.	.	C	9.168	1.020303	0.19433	.	.	ENSG00000096093	ENST00000371068;ENST00000538167	T;T	0.32023	1.47;1.47	4.72	3.84	0.44239	EF-hand-like domain (1);	0.490245	0.21349	N	0.075995	T	0.03608	0.0103	N	0.03000	-0.44	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.34030	-0.9845	10	0.07644	T	0.81	-10.9017	8.7093	0.34374	0.0:0.8961:0.0:0.1039	.	605;624	F5GZD8;Q5JVL4	.;EFHC1_HUMAN	D	624;605	ENSP00000360107:H624D;ENSP00000444521:H605D	ENSP00000360107:H624D	H	+	1	0	EFHC1	52465045	0.516000	0.26218	0.975000	0.42487	0.966000	0.64601	1.335000	0.33839	1.338000	0.45544	0.591000	0.81541	CAT		0.423	EFHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040905.2	NM_018100		G	52357086	C	G	52357086	3	3	793	1	0	0	0	0	1	0	0	0	4948	826	29	4	1922	4	EFHC1	6	52357086	Missense_Mutation	SNP	C	TCGA-SX-A7SQ-01A-12D-A35Z-10	10644664	52357086	118757981	32	47197											
TINAG	27283	hgsc.bcm.edu	37	6	54216153	54216153	+	Missense_Mutation	SNP	A	A	T			TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr6:54216153A>T	ENST00000259782.4	+	8	1180	c.1084A>T	c.(1084-1086)Act>Tct	p.T362S		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	362					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)			CATCCAGGAAACTGAGATAAT	0.313																																																0													93	92	92					6																	54216153		2201	4297	6498	SO:0001583	missense	27283			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.1084A>T	chr6.hg19:g.54216153A>T	ENSP00000259782:p.Thr362Ser		Q5T467|Q9UJW1|Q9ULZ4	Missense_Mutation	SNP	ENST00000259782.4	hg19	CCDS4955.1	.	.	.	.	.	.	.	.	.	.	A	14.71	2.617727	0.46736	.	.	ENSG00000137251	ENST00000339741;ENST00000259782;ENST00000370865	D	0.83673	-1.75	5.08	5.08	0.68730	Peptidase C1A, papain C-terminal (2);	0.000000	0.64402	D	0.000003	T	0.63570	0.2522	L	0.28400	0.85	0.80722	D	1	P	0.36683	0.565	B	0.37015	0.239	T	0.65751	-0.6092	10	0.22706	T	0.39	.	13.9813	0.64306	1.0:0.0:0.0:0.0	.	362	Q9UJW2	TINAG_HUMAN	S	221;362;41	ENSP00000259782:T362S	ENSP00000259782:T362S	T	+	1	0	TINAG	54324112	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	6.953000	0.75995	2.021000	0.59480	0.533000	0.62120	ACT		0.313	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040984.1	NM_014464		T	54216153	A	T	54216153	3	4	793	1	0	0	0	0	1	0	0	0	15926	43	2	5	1114	5	TINAG	6	54216153	Missense_Mutation	SNP	A	TCGA-SX-A7SQ-01A-12D-A35Z-10	1859067	54216153	116898914	33	47198											
USP42	84132	hgsc.bcm.edu	37	7	6196544	6196544	+	Silent	SNP	C	C	T			TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr7:6196544C>T	ENST00000306177.5	+	16	3959	c.3801C>T	c.(3799-3801)gtC>gtT	p.V1267V		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	1267					cell differentiation (GO:0030154)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		TGGAGACTGTCGCCCAGTTCC	0.498																																																0													40	43	42					7																	6196544		1896	4116	6012	SO:0001819	synonymous_variant	84132			AK022759	CCDS47535.1	7p22.2	2005-08-08	2005-08-08		ENSG00000106346	ENSG00000106346		"Ubiquitin-specific peptidases"	20068	protein-coding gene	gene with protein product			"ubiquitin specific protease 42"			12838346	Standard	NM_032172		Approved	FLJ12697	uc011jwp.2	Q9H9J4	OTTHUMG00000151888	ENST00000306177.5:c.3801C>T	chr7.hg19:g.6196544C>T			A2RUE3|B5MDA5|Q0VIN8|Q3C166|Q6P9B4	Silent	SNP	ENST00000306177.5	hg19	CCDS47535.1																																																																																				0.498	USP42-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324262.3	XM_166526		T	6196544	C	T	6196544	2	4	793	1	0	0	0	0	0	0	0	1	17078	871	31	1		1	USP42	7	6196544	Silent	SNP	C	TCGA-SX-A7SQ-01A-12D-A35Z-10		6196544	152942119	34	47199											
THSD7A	221981	hgsc.bcm.edu	37	7	11446609	11446609	+	Missense_Mutation	SNP	G	G	C			TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr7:11446609G>C	ENST00000423059.4	-	21	4241	c.3990C>G	c.(3988-3990)gaC>gaG	p.D1330E	AC004160.4_ENST00000425837.1_RNA|AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1330	TSP type-1 13. {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)		GTTTGGACTGGTCCATCAGGG	0.493										HNSCC(18;0.044)																																						0													98	99	98					7																	11446609		1978	4160	6138	SO:0001583	missense	221981				CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.3990C>G	chr7.hg19:g.11446609G>C	ENSP00000406482:p.Asp1330Glu			Missense_Mutation	SNP	ENST00000423059.4	hg19	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	G	14.30	2.493990	0.44352	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.50277	0.75	6.14	0.196	0.15159	.	0.140343	0.64402	N	0.000005	T	0.10766	0.0263	N	0.00456	-1.48	0.24800	N	0.992709	B	0.02656	0.0	B	0.01281	0.0	T	0.39603	-0.9606	10	0.02654	T	1	.	7.2032	0.25893	0.0:0.3728:0.191:0.4362	.	1330	Q9UPZ6	THS7A_HUMAN	E	1330	ENSP00000406482:D1330E	ENSP00000262042:D1330E	D	-	3	2	THSD7A	11413134	0.994000	0.37717	0.998000	0.56505	0.998000	0.95712	0.353000	0.20130	0.019000	0.15079	0.650000	0.86243	GAC		0.493	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		C	11446609	G	C	11446609	3	2	793	1	0	0	0	0	1	0	0	0	15884	1252	44	4	1015	4	THSD7A	7	11446609	Missense_Mutation	SNP	G	TCGA-SX-A7SQ-01A-12D-A35Z-10	5250065	11446609	147692054	35	47200											
NFE2L3	9603	hgsc.bcm.edu	37	7	26224563	26224563	+	Silent	SNP	A	A	T			TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr7:26224563A>T	ENST00000056233.3	+	4	1504	c.1245A>T	c.(1243-1245)ccA>ccT	p.P415P		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	415					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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						TTGATGAACCAGATTCTGATT	0.363																																																0													95	101	99					7																	26224563		2203	4300	6503	SO:0001819	synonymous_variant	9603			AB010812	CCDS5396.1	7p15.2	2013-08-23	2013-08-23		ENSG00000050344	ENSG00000050344		"basic leucine zipper proteins"	7783	protein-coding gene	gene with protein product		604135	"nuclear factor (erythroid-derived 2)-like 3"			10037736	Standard	NM_004289		Approved	Nrf3	uc003sxq.3	Q9Y4A8	OTTHUMG00000023882	ENST00000056233.3:c.1245A>T	chr7.hg19:g.26224563A>T			Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Silent	SNP	ENST00000056233.3	hg19	CCDS5396.1																																																																																				0.363	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214088.1			T	26224563	A	T	26224563	2	4	793	1	0	0	0	0	0	0	0	1	10371	175	7	5		5	NFE2L3	7	26224563	Silent	SNP	A	TCGA-SX-A7SQ-01A-12D-A35Z-10	14777954	26224563	132914100	36	47201											
CCDC146	57639	hgsc.bcm.edu	37	7	76922400	76922400	+	Silent	SNP	C	C	T			TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr7:76922400C>T	ENST00000285871.4	+	18	2674	c.2547C>T	c.(2545-2547)ttC>ttT	p.F849F	CCDC146_ENST00000415740.2_3'UTR|CCDC146_ENST00000431197.1_Silent_p.F563F	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	849										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				ACTTCATCTTCACTTGCAATT	0.428																																																0													112	109	110					7																	76922400		2203	4300	6503	SO:0001819	synonymous_variant	57639			BC029458	CCDS34671.1	7q11.23	2011-09-07			ENSG00000135205	ENSG00000135205			29296	protein-coding gene	gene with protein product						10819331	Standard	NM_020879		Approved	KIAA1505	uc003uga.3	Q8IYE0	OTTHUMG00000162595	ENST00000285871.4:c.2547C>T	chr7.hg19:g.76922400C>T			A8K8X6|Q9P223	Silent	SNP	ENST00000285871.4	hg19	CCDS34671.1																																																																																				0.428	CCDC146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341449.1	NM_020879		T	76922400	C	T	76922400	2	4	793	1	0	0	0	0	0	0	0	1	2782	825	29	2		2	CCDC146	7	76922400	Silent	SNP	C	TCGA-SX-A7SQ-01A-12D-A35Z-10	50697837	76922400	82216263	37	47202											
MET	4233	hgsc.bcm.edu	37	7	116417463	116417463	+	Missense_Mutation	SNP	C	C	T	rs121913244		TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr7:116417463C>T	ENST00000318493.6	+	16	3521	c.3334C>T	c.(3334-3336)Cat>Tat	p.H1112Y	MET_ENST00000397752.3_Missense_Mutation_p.H1094Y|MET_ENST00000539704.1_5'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)	p.H1112Y(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)			TTGTGTATATCATGGGACTTT	0.343			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																														Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	1	Substitution - Missense(1)	kidney(1)	GRCh37	CM993668	MET	M	rs121913244						188	175	179					7																	116417463		1832	4086	5918	SO:0001583	missense	4233	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	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.3334C>T	chr7.hg19:g.116417463C>T	ENSP00000317272:p.His1112Tyr		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	hg19	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.615896	0.87359	.	.	ENSG00000105976	ENST00000397752;ENST00000318493	T;T	0.33654	1.4;1.4	5.29	5.29	0.74685	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	0.43919	0.1269	N	0.11364	0.135	0.80722	D	1	P;D	0.89917	0.937;1.0	P;D	0.91635	0.854;0.999	T	0.52711	-0.8539	10	0.51188	T	0.08	-16.8984	19.2953	0.94119	0.0:1.0:0.0:0.0	.	1112;1094	P08581-2;P08581	.;MET_HUMAN	Y	1094;1112	ENSP00000380860:H1094Y;ENSP00000317272:H1112Y	ENSP00000317272:H1112Y	H	+	1	0	MET	116204699	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.776000	0.85560	2.628000	0.89032	0.655000	0.94253	CAT		0.343	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			T	116417463	C	T	116417463	3	4	793	1	0	0	0	0	1	0	0	0	9487	826	29	2	3392	2	MET	7	116417463	Missense_Mutation	SNP	C	TCGA-SX-A7SQ-01A-12D-A35Z-10	39495063	116417463	42721200	38	47203											
TTC39B	158219	hgsc.bcm.edu	37	9	15225959	15225959	+	Silent	SNP	A	A	G			TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr9:15225959A>G	ENST00000512701.2	-	3	363	c.327T>C	c.(325-327)gaT>gaC	p.D109D	TTC39B_ENST00000355694.2_Silent_p.D43D|TTC39B_ENST00000582994.1_5'UTR|TTC39B_ENST00000507285.1_5'UTR|TTC39B_ENST00000380850.4_Silent_p.D109D|TTC39B_ENST00000541445.1_Silent_p.D43D|TTC39B_ENST00000297615.5_Intron|TTC39B_ENST00000507993.1_Intron			Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	109										NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						CCTGTTGTGTATCACATGATG	0.502																																																0													125	114	118					9																	15225959		2203	4300	6503	SO:0001819	synonymous_variant	158219			AK091187	CCDS6477.1, CCDS6477.2, CCDS55294.1, CCDS55295.1, CCDS55296.1	9p22.2	2013-01-11	2008-06-23	2008-06-23	ENSG00000155158	ENSG00000155158		"Tetratricopeptide (TTC) repeat domain containing"	23704	protein-coding gene	gene with protein product		613574	"chromosome 9 open reading frame 52"	C9orf52			Standard	NM_001168339		Approved	FLJ33868	uc003zlr.2	Q5VTQ0	OTTHUMG00000019581	ENST00000512701.2:c.327T>C	chr9.hg19:g.15225959A>G			A5PLN1|B4DQ10|B4DQX4|B4DW93|Q8IVR7|Q8IXZ6|Q8N267	Silent	SNP	ENST00000512701.2	hg19	CCDS6477.2																																																																																				0.502	TTC39B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051758.3	NM_152574		G	15225959	A	G	15225959	2	3	793	1	0	0	0	0	0	0	0	1	16713	446	16	3		3	TTC39B	9	15225959	Silent	SNP	A	TCGA-SX-A7SQ-01A-12D-A35Z-10		15225959	125987472	39	47204											
SLC31A1	1317	hgsc.bcm.edu	37	9	116021053	116021053	+	Silent	SNP	G	G	A			TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr9:116021053G>A	ENST00000374212.4	+	4	434	c.282G>A	c.(280-282)ctG>ctA	p.L94L	CDC26_ENST00000490408.1_Intron|SLC31A1_ENST00000374210.6_Silent_p.L94L	NM_001859.3	NP_001850.1	O15431	COPT1_HUMAN	solute carrier family 31 (copper transporter), member 1	94					cellular copper ion homeostasis (GO:0006878)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	copper ion transmembrane transporter activity (GO:0005375)|copper uptake transmembrane transporter activity (GO:0015088)			breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7					Bortezomib(DB00188)|Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	AGAGCCTGCTGCGTAAGTCAC	0.443																																					Ovarian(135;1049 1799 4519 17564 28677)											0													156	138	144					9																	116021053		2203	4300	6503	SO:0001819	synonymous_variant	1317			U83460	CCDS6789.1	9q32	2013-07-17	2013-07-17		ENSG00000136868	ENSG00000136868		"Solute carriers"	11016	protein-coding gene	gene with protein product	copper transport 1 homolog (S. cerevisiae)	603085		COPT1		9207117	Standard	NM_001859		Approved	hCTR1, CTR1	uc004bgu.3	O15431	OTTHUMG00000020519	ENST00000374212.4:c.282G>A	chr9.hg19:g.116021053G>A			A8K8Z6|Q53GR5|Q5T1M4	Silent	SNP	ENST00000374212.4	hg19	CCDS6789.1																																																																																				0.443	SLC31A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053715.1	NM_001859		A	116021053	G	A	116021053	2	1	793	1	0	0	0	0	0	0	0	1	14569	1306	46	2		2	SLC31A1	9	116021053	Silent	SNP	G	TCGA-SX-A7SQ-01A-12D-A35Z-10	100795094	116021053	25192378	40	47205											
SDCCAG3	10807	hgsc.bcm.edu	37	9	139304610	139304610	+	Missense_Mutation	SNP	A	A	T			TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr9:139304610A>T	ENST00000357365.3	-	2	281	c.152T>A	c.(151-153)tTc>tAc	p.F51Y	SDCCAG3_ENST00000298537.7_Missense_Mutation_p.F51Y|PMPCA_ENST00000399219.3_5'Flank|PMPCA_ENST00000371720.1_5'Flank|SDCCAG3_ENST00000371725.3_Intron|PMPCA_ENST00000371717.3_5'Flank	NM_001039707.1	NP_001034796.1	Q96C92	SDCG3_HUMAN	serologically defined colon cancer antigen 3	51						cytoplasm (GO:0005737)				NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)		AATGCcgaagaagggggagtc	0.647																																																0													19	26	24					9																	139304610		1922	4116	6038	SO:0001583	missense	10807			AF039688	CCDS6999.2, CCDS43903.1, CCDS43904.1	9q34.3	2010-10-27			ENSG00000165689	ENSG00000165689			10667	protein-coding gene	gene with protein product						9610721	Standard	XM_005266050		Approved	NY-CO-3	uc004chi.3	Q96C92	OTTHUMG00000020928	ENST00000357365.3:c.152T>A	chr9.hg19:g.139304610A>T	ENSP00000349929:p.Phe51Tyr		A6NCP1|O60525|Q5SXN1|Q5SXN2|Q5SXN3|Q5SXN4|Q5SXN8|Q6V704|Q9NVY5	Missense_Mutation	SNP	ENST00000357365.3	hg19	CCDS43904.1	.	.	.	.	.	.	.	.	.	.	A	15.27	2.784140	0.49997	.	.	ENSG00000165689	ENST00000357365;ENST00000298537	T;T	0.16196	2.45;2.36	3.11	1.93	0.25924	.	.	.	.	.	T	0.11537	0.0281	L	0.44542	1.39	0.80722	D	1	B;B	0.33238	0.403;0.378	B;B	0.32465	0.06;0.146	T	0.13522	-1.0506	9	0.15066	T	0.55	-12.2273	5.5118	0.16884	0.7535:0.0:0.0:0.2465	.	51;51	Q96C92-2;Q96C92	.;SDCG3_HUMAN	Y	51	ENSP00000349929:F51Y;ENSP00000298537:F51Y	ENSP00000298537:F51Y	F	-	2	0	SDCCAG3	138424431	0.955000	0.32602	0.989000	0.46669	0.963000	0.63663	1.092000	0.30927	0.543000	0.28864	0.533000	0.62120	TTC		0.647	SDCCAG3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055060.2	NM_006643		T	139304610	A	T	139304610	3	4	793	1	0	0	0	0	1	0	0	0	13964	246	9	5	1191	5	SDCCAG3	9	139304610	Missense_Mutation	SNP	A	TCGA-SX-A7SQ-01A-12D-A35Z-10	23283557	139304610	1908821	41	47206											
ABCA2	20	hgsc.bcm.edu	37	9	139905075	139905075	+	Silent	SNP	G	G	A			TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr9:139905075G>A	ENST00000371605.3	-	39	6315	c.6168C>T	c.(6166-6168)acC>acT	p.T2056T	ABCA2_ENST00000341511.6_Silent_p.T2057T|ABCA2_ENST00000265662.5_Silent_p.T2057T			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	2056	ABC transporter 2. {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)		AGCCCACCTTGGTCAGGTTCT	0.667																																																0													99	102	101					9																	139905075		2039	4181	6220	SO:0001819	synonymous_variant	20			U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"ATP binding cassette transporters / subfamily A"	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.6168C>T	chr9.hg19:g.139905075G>A			A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Silent	SNP	ENST00000371605.3	hg19																																																																																					0.667	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		A	139905075	G	A	139905075	2	1	793	1	0	0	0	0	0	0	0	1	32	1335	47	2		2	ABCA2	9	139905075	Silent	SNP	G	TCGA-SX-A7SQ-01A-12D-A35Z-10	600465	139905075	1308356	42	47207											
SUFU	51684	hgsc.bcm.edu	37	10	104356961	104356961	+	Missense_Mutation	SNP	C	C	A			TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr10:104356961C>A	ENST00000369902.3	+	7	987	c.821C>A	c.(820-822)gCc>gAc	p.A274D	SUFU_ENST00000423559.2_Missense_Mutation_p.A274D|SUFU_ENST00000369899.2_Missense_Mutation_p.A274D|SUFU_ENST00000471000.1_3'UTR	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	274					cytoplasmic sequestering of transcription factor (GO:0042994)|heart looping (GO:0001947)|multicellular organismal development (GO:0007275)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skin development (GO:0043588)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|primary cilium (GO:0072372)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		GCCAAGTGTGCCTGGGATGAC	0.582			"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)																										yes	Rec	yes	Medulloblastoma predisposition	10	10q24.32	51684	suppressor of fused homolog (Drosophila)		O	0													115	105	108					10																	104356961		2203	4300	6503	SO:0001583	missense	51684	Familial Cancer Database		AF175770	CCDS7537.1, CCDS53571.1	10q24.32	2014-09-17			ENSG00000107882	ENSG00000107882			16466	protein-coding gene	gene with protein product		607035				15367681	Standard	NM_016169		Approved	SUFUH, SUFUXL, PRO1280	uc001kvy.2	Q9UMX1	OTTHUMG00000018966	ENST00000369902.3:c.821C>A	chr10.hg19:g.104356961C>A	ENSP00000358918:p.Ala274Asp	1381	Q7LCP7|Q9NT90|Q9NZ07|Q9UHK2|Q9UHM8|Q9UMY0	Missense_Mutation	SNP	ENST00000369902.3	hg19	CCDS7537.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.721863	0.68959	.	.	ENSG00000107882	ENST00000369902;ENST00000369899;ENST00000423559	T;T;T	0.48836	0.8;0.8;0.8	6.03	6.03	0.97812	Suppressor of fused C-terminal (1);	0.048667	0.85682	D	0.000000	T	0.41581	0.1165	L	0.36672	1.1	0.58432	D	0.999997	B;B;B	0.34015	0.022;0.435;0.083	B;B;B	0.29353	0.009;0.101;0.017	T	0.16158	-1.0412	10	0.35671	T	0.21	-19.8645	20.5568	0.99304	0.0:1.0:0.0:0.0	.	274;274;274	Q9UMX1;Q9UMX1-2;Q9UMX1-3	SUFU_HUMAN;.;.	D	274	ENSP00000358918:A274D;ENSP00000358915:A274D;ENSP00000411597:A274D	ENSP00000358915:A274D	A	+	2	0	SUFU	104346951	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.617000	0.67716	2.861000	0.98227	0.655000	0.94253	GCC		0.582	SUFU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050089.1	NM_016169		A	104356961	C	A	104356961	3	1	793	1	0	0	0	0	1	0	0	0	15373	739	26	4	847	4	SUFU	10	104356961	Missense_Mutation	SNP	C	TCGA-SX-A7SQ-01A-12D-A35Z-10		104356961	31177786	43	47208											
TDRD1	56165	hgsc.bcm.edu	37	10	115947804	115947804	+	Nonsense_Mutation	SNP	C	C	T			TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr10:115947804C>T	ENST00000369280.1	+	2	674	c.214C>T	c.(214-216)Caa>Taa	p.Q72*	TDRD1_ENST00000251864.2_Nonsense_Mutation_p.Q72*|TDRD1_ENST00000369282.1_Nonsense_Mutation_p.Q72*|TDRD1_ENST00000369281.2_Nonsense_Mutation_p.Q72*|TDRD1_ENST00000422662.1_5'UTR			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	72					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)		GCTTTGTGAGCAAACCAAACA	0.393																																																0													98	105	103					10																	115947804		2203	4300	6503	SO:0001587	stop_gained	56165			AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"Tudor domain containing"	11712	protein-coding gene	gene with protein product	"cancer/testis antigen 41.1"	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.214C>T	chr10.hg19:g.115947804C>T	ENSP00000358286:p.Gln72*		A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Nonsense_Mutation	SNP	ENST00000369280.1	hg19		.	.	.	.	.	.	.	.	.	.	C	36	5.622831	0.96660	.	.	ENSG00000095627	ENST00000369282;ENST00000251864;ENST00000369281;ENST00000369280	.	.	.	5.44	3.53	0.40419	.	0.113505	0.39909	N	0.001228	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-5.6592	10.9788	0.47482	0.3394:0.6606:0.0:0.0	.	.	.	.	X	72	.	ENSP00000251864:Q72X	Q	+	1	0	TDRD1	115937794	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.525000	0.35953	0.632000	0.30432	0.563000	0.77884	CAA		0.393	TDRD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050457.2			T	115947804	C	T	115947804	4	4	793	1	0	0	0	0	0	1	0	0	15735	711	25	2	216	2	TDRD1	10	115947804	Nonsense_Mutation	SNP	C	TCGA-SX-A7SQ-01A-12D-A35Z-10	11590843	115947804	19586943	44	47209											
FAM160A2	84067	hgsc.bcm.edu	37	11	6245688	6245688	+	Missense_Mutation	SNP	G	G	T			TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr11:6245688G>T	ENST00000449352.2	-	2	322	c.59C>A	c.(58-60)cCt>cAt	p.P20H	FAM160A2_ENST00000524416.1_Missense_Mutation_p.P20H|FAM160A2_ENST00000265978.4_Missense_Mutation_p.P20H			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	20					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)				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						GGCCCCTTGAGGTATACGGTG	0.592																																																0													95	87	90					11																	6245688		2201	4296	6497	SO:0001583	missense	84067				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.59C>A	chr11.hg19:g.6245688G>T	ENSP00000416918:p.Pro20His		Q9C0A4|Q9H0N3|Q9H624	Missense_Mutation	SNP	ENST00000449352.2	hg19	CCDS44530.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.261846	0.59431	.	.	ENSG00000051009	ENST00000449352;ENST00000265978;ENST00000524416	T;T;T	0.14766	3.1;3.1;2.48	5.74	5.74	0.90152	.	0.349704	0.25156	N	0.032716	T	0.18759	0.0450	L	0.29908	0.895	0.36059	D	0.841331	B;B;D	0.69078	0.146;0.065;0.997	B;B;P	0.57468	0.024;0.016;0.821	T	0.06844	-1.0804	10	0.11485	T	0.65	-12.051	14.5134	0.67804	0.0:0.1464:0.8536:0.0	.	20;20;20	E9PJK5;Q8N612;Q8N612-2	.;F16A2_HUMAN;.	H	20	ENSP00000416918:P20H;ENSP00000265978:P20H;ENSP00000431773:P20H	ENSP00000265978:P20H	P	-	2	0	FAM160A2	6202264	0.999000	0.42202	1.000000	0.80357	0.967000	0.64934	3.803000	0.55560	2.700000	0.92200	0.650000	0.86243	CCT		0.592	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383759.1	NM_032127		T	6245688	G	T	6245688	3	4	793	1	0	0	0	0	1	0	0	0	5471	1000	35	4	2945	4	FAM160A2	11	6245688	Missense_Mutation	SNP	G	TCGA-SX-A7SQ-01A-12D-A35Z-10		6245688	128760828	45	47210											
PRKCDBP	112464	hgsc.bcm.edu	37	11	6341515	6341515	+	Silent	SNP	C	C	T			TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr11:6341515C>T	ENST00000303927.3	-	1	362	c.192G>A	c.(190-192)ctG>ctA	p.L64L	PRKCDBP_ENST00000530979.1_Silent_p.L64L	NM_145040.2	NP_659477.2	Q969G5	PRDBP_HUMAN	protein kinase C, delta binding protein	64					cortical actin cytoskeleton organization (GO:0030866)|negative regulation of fermentation (GO:1901003)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	caveola (GO:0005901)|protein complex (GO:0043234)				large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		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)		TCAGAGCGCCCAGGCCGCTCT	0.711																																																0													6	6	6					11																	6341515		2108	4157	6265	SO:0001819	synonymous_variant	112464			AF339881	CCDS7762.1	11p15.4	2011-04-20			ENSG00000170955	ENSG00000170955			9400	protein-coding gene	gene with protein product	"sdr-related gene product that binds to c-kinase"					9054438	Standard	NM_145040		Approved	SRBC, HSRBC, MGC20400, cavin-3, CAVIN3	uc001mcu.1	Q969G5	OTTHUMG00000133378	ENST00000303927.3:c.192G>A	chr11.hg19:g.6341515C>T				Silent	SNP	ENST00000303927.3	hg19	CCDS7762.1																																																																																				0.711	PRKCDBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257228.2	NM_145040		T	6341515	C	T	6341515	2	4	793	1	0	0	0	0	0	0	0	1	12515	581	21	2		2	PRKCDBP	11	6341515	Silent	SNP	C	TCGA-SX-A7SQ-01A-12D-A35Z-10	95827	6341515	128665001	46	47211											
OR10A5	144124	hgsc.bcm.edu	37	11	6867588	6867588	+	Silent	SNP	T	T	C			TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr11:6867588T>C	ENST00000299454.4	+	1	706	c.675T>C	c.(673-675)gcT>gcC	p.A225A	OR10A5_ENST00000379831.2_Silent_p.A229A			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	225					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TTGCTGCTGCTATCCTCAAGA	0.473																																					Pancreas(44;21 1072 25662 28041 45559)											0													286	234	252					11																	6867588		2201	4296	6497	SO:0001819	synonymous_variant	144124			AF324499	CCDS7773.1	11p15.4	2012-08-09			ENSG00000166363	ENSG00000166363		"GPCR / Class A : Olfactory receptors"	15131	protein-coding gene	gene with protein product		608493		OR10A1			Standard	NM_178168		Approved	OR11-403, JCG6	uc001met.1	Q9H207	OTTHUMG00000165738	ENST00000299454.4:c.675T>C	chr11.hg19:g.6867588T>C			O95223|Q52M66|Q96R21|Q96R22	Silent	SNP	ENST00000299454.4	hg19	CCDS7773.1																																																																																				0.473	OR10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385983.1	NM_178168		C	6867588	T	C	6867588	2	2	793	1	0	0	0	0	0	0	0	1	10895	1509	53	3		3	OR10A5	11	6867588	Silent	SNP	T	TCGA-SX-A7SQ-01A-12D-A35Z-10	526073	6867588	128138928	47	47212											
ARAP1	116985	hgsc.bcm.edu	37	11	72423565	72423565	+	Silent	SNP	G	G	A			TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr11:72423565G>A	ENST00000393609.3	-	6	998	c.796C>T	c.(796-798)Ctg>Ttg	p.L266L	ARAP1_ENST00000334211.8_Silent_p.L21L|ARAP1_ENST00000426523.1_Silent_p.L21L|ARAP1_ENST00000393605.3_Silent_p.L26L|ARAP1_ENST00000429686.1_Silent_p.L21L|ARAP1_ENST00000359373.5_Silent_p.L266L|ARAP1_ENST00000455638.2_Silent_p.L266L	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	266					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						TCGCTCAGCAGACTGGCCACG	0.657																																					Ovarian(102;1198 1520 13195 17913 37529)											0													170	133	145					11																	72423565		2200	4293	6493	SO:0001819	synonymous_variant	116985			AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16925	protein-coding gene	gene with protein product		606646	"centaurin, delta 2"	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.796C>T	chr11.hg19:g.72423565G>A			A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Silent	SNP	ENST00000393609.3	hg19	CCDS41687.1																																																																																				0.657	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1	NM_001040118		A	72423565	G	A	72423565	2	1	793	1	0	0	0	0	0	0	0	1	838	933	33	2		2	ARAP1	11	72423565	Silent	SNP	G	TCGA-SX-A7SQ-01A-12D-A35Z-10	65555977	72423565	62582951	48	47213											
DLG2	1740	hgsc.bcm.edu	37	11	83770507	83770507	+	Missense_Mutation	SNP	C	C	G			TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr11:83770507C>G	ENST00000532653.1	-	6	757	c.455G>C	c.(454-456)cGg>cCg	p.R152P	DLG2_ENST00000524982.1_Missense_Mutation_p.R152P|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000418306.2_Missense_Mutation_p.R101P|DLG2_ENST00000537455.1_5'UTR|DLG2_ENST00000376104.2_Missense_Mutation_p.R257P|DLG2_ENST00000280241.8_Missense_Mutation_p.R191P|DLG2_ENST00000543673.1_Missense_Mutation_p.R257P|DLG2_ENST00000398301.2_Missense_Mutation_p.R191P|DLG2_ENST00000531015.1_Missense_Mutation_p.R119P|DLG2_ENST00000398309.2_Missense_Mutation_p.R152P|DLG2_ENST00000330014.6_Missense_Mutation_p.R91P			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0					nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CTCATTCACCCGCAAGATACA	0.443																																																0													67	60	63					11																	83770507		1894	4139	6033	SO:0001583	missense	1740			U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	2901	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 58"	603583	"discs, large homolog 2, chapsyn-110 (Drosophila)"			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.455G>C	chr11.hg19:g.83770507C>G	ENSP00000435849:p.Arg152Pro		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000532653.1	hg19		.	.	.	.	.	.	.	.	.	.	C	28.2	4.899836	0.91962	.	.	ENSG00000150672	ENST00000398309;ENST00000376104;ENST00000418306;ENST00000543673;ENST00000280241;ENST00000330014;ENST00000524982;ENST00000532653;ENST00000546021;ENST00000531015;ENST00000398301;ENST00000398299	T;T;T;T;T;T;T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64;1.64;1.64;1.64;1.64;1.64;1.64	5.17	5.17	0.71159	PDZ/DHR/GLGF (4);	0.095438	0.43416	D	0.000561	T	0.54431	0.1858	M	0.64170	1.965	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;0.999;0.998;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;0.966;0.932;0.977;0.991;0.999;0.99;1.0	T	0.51568	-0.8689	9	.	.	.	.	18.6643	0.91483	0.0:1.0:0.0:0.0	.	119;152;152;91;191;257;152;101	E9PIW2;B7Z2T4;E9PN83;B7Z264;Q6ZSU2;Q15700-2;Q15700;Q15700-3	.;.;.;.;.;.;DLG2_HUMAN;.	P	152;257;101;257;191;91;152;152;257;119;191;69	ENSP00000381355:R152P;ENSP00000365272:R257P;ENSP00000402275:R101P;ENSP00000441994:R257P;ENSP00000280241:R191P;ENSP00000381353:R91P;ENSP00000432894:R152P;ENSP00000435849:R152P;ENSP00000433848:R119P;ENSP00000381346:R191P;ENSP00000381344:R69P	.	R	-	2	0	DLG2	83448155	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.762000	0.68809	2.420000	0.82092	0.460000	0.39030	CGG		0.443	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2	NM_001364		G	83770507	C	G	83770507	3	3	793	1	0	0	0	0	1	0	0	0	4557	652	23	4	2279	4	DLG2	11	83770507	Missense_Mutation	SNP	C	TCGA-SX-A7SQ-01A-12D-A35Z-10	11346942	83770507	51236009	49	47214											
TRIM49	57093	hgsc.bcm.edu	37	11	89531578	89531579	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	AT	AT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr11:89531578_89531579delAT	ENST00000329758.1	-	8	1406_1407	c.1078_1079delAT	c.(1078-1080)atgfs	p.M360fs	TRIM49_ENST00000532501.2_Frame_Shift_Del_p.M283fs	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN	tripartite motif containing 49	360	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TTTCCGATACATATTACAGACA	0.436																																																0																																										SO:0001589	frameshift_variant	57093			AB037682	CCDS8287.1	11p11.12-q12	2012-05-21	2011-01-25	2004-11-17	ENSG00000168930	ENSG00000168930		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	13431	protein-coding gene	gene with protein product		606124	"ring finger protein 18", "tripartite motif-containing 49"	RNF18		11018261	Standard	NM_020358		Approved	TRIM49A	uc001pdb.3	P0CI25		ENST00000329758.1:c.1078_1079delAT	chr11.hg19:g.89531580_89531581delAT	ENSP00000327604:p.Met360fs		A0AVR7|A0AVR9|Q6DJV1|Q9NS80	Frame_Shift_Del	DEL	ENST00000329758.1	hg19	CCDS8287.1																																																																																				0.436	TRIM49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395435.1	NM_020358		-	89531579	AT	-	89531578	7	5	793	1	0	1	0	1	0	0	0	0	16529	217	8	0	283	0	TRIM49	11	89531578	Frame_Shift_Del	DEL	AT	TCGA-SX-A7SQ-01A-12D-A35Z-10	5761071	89531578	45474938	50	47215											
KBTBD3	143879	hgsc.bcm.edu	37	11	105923709	105923709	+	Silent	SNP	C	C	A			TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr11:105923709C>A	ENST00000526793.1	-	3	1866	c.1707G>T	c.(1705-1707)gtG>gtT	p.V569V	KBTBD3_ENST00000531837.1_Silent_p.V569V|KBTBD3_ENST00000534815.1_Silent_p.V490V	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	565										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		GGTAGACCTGCACTTCATCTG	0.383																																																0													130	129	129					11																	105923709		2201	4298	6499	SO:0001819	synonymous_variant	143879			AK055247	CCDS8334.1	11q22.3	2013-01-08	2003-12-12	2003-12-17		ENSG00000182359		"BTB/POZ domain containing"	22934	protein-coding gene	gene with protein product			"BTB and kelch domain containing 3"	BKLHD3			Standard	NM_198439		Approved		uc001pjb.3	Q8NAB2		ENST00000526793.1:c.1707G>T	chr11.hg19:g.105923709C>A			Q6N066|Q86X38|Q96NK5	Silent	SNP	ENST00000526793.1	hg19	CCDS8334.1																																																																																				0.383	KBTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388705.2	NM_152433		A	105923709	C	A	105923709	2	1	793	1	0	0	0	0	0	0	0	1	7996	697	25	4		4	KBTBD3	11	105923709	Silent	SNP	C	TCGA-SX-A7SQ-01A-12D-A35Z-10	16392131	105923709	29082807	51	47216											
TECTA	7007	hgsc.bcm.edu	37	11	120976623	120976623	+	Missense_Mutation	SNP	A	A	G			TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr11:120976623A>G	ENST00000392793.1	+	3	419	c.148A>G	c.(148-150)Aag>Gag	p.K50E	TECTA_ENST00000264037.2_Missense_Mutation_p.K50E			O75443	TECTA_HUMAN	tectorin alpha	50					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)		ATCTGAGATTAAGTTGGCCAT	0.468																																																0													258	246	250					11																	120976623		2203	4299	6502	SO:0001583	missense	7007			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.148A>G	chr11.hg19:g.120976623A>G	ENSP00000376543:p.Lys50Glu			Missense_Mutation	SNP	ENST00000392793.1	hg19	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	A	13.62	2.291183	0.40494	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.76186	-1.0;-1.0	5.78	4.59	0.56863	.	0.112533	0.64402	D	0.000009	T	0.60945	0.2308	N	0.25286	0.73	0.31391	N	0.677863	B	0.22003	0.063	B	0.19666	0.026	T	0.63959	-0.6519	10	0.42905	T	0.14	.	12.6491	0.56751	0.8622:0.1378:0.0:0.0	.	50	O75443	TECTA_HUMAN	E	50	ENSP00000376543:K50E;ENSP00000264037:K50E	ENSP00000264037:K50E	K	+	1	0	TECTA	120481833	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	2.732000	0.47352	2.204000	0.70986	0.528000	0.53228	AAG		0.468	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		G	120976623	A	G	120976623	3	3	793	1	0	0	0	0	1	0	0	0	15752	363	13	3	154	3	TECTA	11	120976623	Missense_Mutation	SNP	A	TCGA-SX-A7SQ-01A-12D-A35Z-10	15052914	120976623	14029893	52	47217											
AGAP2	116986	hgsc.bcm.edu	37	12	58131312	58131312	+	Missense_Mutation	SNP	C	C	T	rs561812307		TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr12:58131312C>T	ENST00000547588.1	-	1	717	c.718G>A	c.(718-720)Gcc>Acc	p.A240T	AGAP2_ENST00000257897.3_Intron	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	240					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						gcggcggcggcggtggcggcg	0.706																																																0													4	6	5					12																	58131312		1428	3301	4729	SO:0001583	missense	116986			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.718G>A	chr12.hg19:g.58131312C>T	ENSP00000449241:p.Ala240Thr		A8K9F7|O00578|Q548E0|Q8IWU3	Missense_Mutation	SNP	ENST00000547588.1	hg19	CCDS44932.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.24|10.24	1.294811|1.294811	0.23564|0.23564	.|.	.|.	ENSG00000135439|ENSG00000135439	ENST00000547588|ENST00000328568	T|.	0.39997|.	1.05|.	3.81|3.81	-1.14|-1.14	0.09741|0.09741	.|.	1.354790|.	0.05448|.	N|.	0.548952|.	T|T	0.10508|0.10508	0.0257|0.0257	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B|.	0.14012|.	0.009;0.005|.	B;B|.	0.06405|.	0.002;0.001|.	T|T	0.24548|0.24548	-1.0157|-1.0157	10|5	0.56958|.	D|.	0.05|.	.|.	0.5619|0.5619	0.00680|0.00680	0.1874:0.3561:0.184:0.2724|0.1874:0.3561:0.184:0.2724	.|.	240;240|.	F8VVT9;Q99490|.	.;AGAP2_HUMAN|.	T|H	240|103	ENSP00000449241:A240T|.	ENSP00000449241:A240T|.	A|R	-|-	1|2	0|0	AGAP2|AGAP2	56417579|56417579	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.016000|0.016000	0.09150|0.09150	0.086000|0.086000	0.14935|0.14935	-0.555000|-0.555000	0.06142|0.06142	0.455000|0.455000	0.32223|0.32223	GCC|CGC		0.706	AGAP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408367.1	NM_014770		T	58131312	C	T	58131312	3	4	793	1	0	0	0	0	1	0	0	0	368	768	27	1	2936	1	AGAP2	12	58131312	Missense_Mutation	SNP	C	TCGA-SX-A7SQ-01A-12D-A35Z-10		58131312	75720583	53	47218											
PHLDA1	22822	hgsc.bcm.edu	37	12	76424940	76424940	+	Silent	SNP	C	C	T	rs549868413|rs57875368|rs111754051|rs71716769|rs80344196|rs398020175	byFrequency	TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr12:76424940C>T	ENST00000266671.5	-	1	2772	c.582G>A	c.(580-582)caG>caA	p.Q194Q	PHLDA1_ENST00000602540.1_Silent_p.Q53Q|RP11-290L1.3_ENST00000552367.1_RNA|RP11-290L1.2_ENST00000547721.1_RNA			Q8WV24	PHLA1_HUMAN	pleckstrin homology-like domain, family A, member 1	194	PH.|Poly-Gln.				apoptotic process (GO:0006915)|FasL biosynthetic process (GO:0045210)|forebrain neuron differentiation (GO:0021879)|positive regulation of apoptotic process (GO:0043065)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	14		Colorectal(145;0.09)				gctgctgttgctgctgctgct	0.652																																																0													4	4	4					12																	76424940		2019	3942	5961	SO:0001819	synonymous_variant	22822			Z50194	CCDS31861.1	12q15	2008-08-05				ENSG00000139289			8933	protein-coding gene	gene with protein product	"proline-histidine rich protein"	605335				12384558, 15037619	Standard	NM_007350		Approved	TDAG51, DT1P1B11, PHRIP	uc001sxu.3	Q8WV24		ENST00000266671.5:c.582G>A	chr12.hg19:g.76424940C>T			A1A4G9|Q15184|Q2TAN2|Q9NZ17	Silent	SNP	ENST00000266671.5	hg19	CCDS31861.1																																																																																				0.652	PHLDA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405846.2	NM_007350		T	76424940	C	T	76424940	2	4	793	1	0	0	0	0	0	0	0	1	11850	796	28	2		2	PHLDA1	12	76424940	Silent	SNP	C	TCGA-SX-A7SQ-01A-12D-A35Z-10	18293628	76424940	57426955	54	47219											
CLLU1OS	574016	hgsc.bcm.edu	37	12	92814817	92814817	+	Missense_Mutation	SNP	T	T	C			TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr12:92814817T>C	ENST00000378487.2	-	3	276	c.275A>G	c.(274-276)gAt>gGt	p.D92G	RP11-693J15.4_ENST00000508671.1_RNA|CLLU1_ENST00000378485.1_5'Flank|CLLU1OS_ENST00000538965.1_Missense_Mutation_p.D92G	NM_001025232.1	NP_001020403.1	Q5K130	CLU1O_HUMAN	chronic lymphocytic leukemia up-regulated 1 opposite strand	92										large_intestine(1)|lung(7)	8						CTTCTTCCCATCATCATTGCC	0.438																																																0													504	468	480					12																	92814817		2203	4300	6503	SO:0001583	missense	574016			AJ845168	CCDS31871.1	12q22	2006-03-30	2006-03-30		ENSG00000205057	ENSG00000205057			24070	protein-coding gene	gene with protein product			"chronic lymphocytic leukemia up-regulated 1 overlapping strand"				Standard	NM_001025232		Approved		uc001tcb.1	Q5K130	OTTHUMG00000161990	ENST00000378487.2:c.275A>G	chr12.hg19:g.92814817T>C	ENSP00000367748:p.Asp92Gly			Missense_Mutation	SNP	ENST00000378487.2	hg19	CCDS31871.1	.	.	.	.	.	.	.	.	.	.	T	3.155	-0.173406	0.06421	.	.	ENSG00000205057	ENST00000378487;ENST00000538965	.	.	.	3.22	-1.87	0.07737	.	.	.	.	.	T	0.16128	0.0388	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19976	-1.0289	8	0.87932	D	0	.	4.2494	0.10688	0.0:0.2396:0.4148:0.3456	.	92	Q5K130	CLU1O_HUMAN	G	92	.	ENSP00000367748:D92G	D	-	2	0	CLLU1OS	91338948	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.668000	0.05268	-0.372000	0.07992	-0.517000	0.04412	GAT		0.438	CLLU1OS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366646.1			C	92814817	T	C	92814817	3	2	793	1	0	0	0	0	1	0	0	0	3543	1435	50	3	34	3	CLLU1OS	12	92814817	Missense_Mutation	SNP	T	TCGA-SX-A7SQ-01A-12D-A35Z-10	16389877	92814817	41037078	55	47220											
STAB2	55576	hgsc.bcm.edu	37	12	104160113	104160113	+	Nonstop_Mutation	SNP	G	G	T			TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr12:104160113G>T	ENST00000388887.2	+	69	7859	c.7655G>T	c.(7654-7656)tGa>tTa	p.*2552L	RP11-341G23.4_ENST00000551299.1_RNA|RP11-341G23.4_ENST00000550029.1_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						AGGACACTGTGAGGGCCTGGA	0.537																																																0													101	84	90					12																	104160113		2203	4300	6503	SO:0001578	stop_lost	55576			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.7655G>T	chr12.hg19:g.104160113G>T	ENSP00000373539:p.*2552Leuext*19			Missense_Mutation	SNP	ENST00000388887.2	hg19	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.458045	0.43634	.	.	ENSG00000136011	ENST00000388887	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9111	0.47110	0.0851:0.0:0.9149:0.0	.	.	.	.	L	2552	.	.	X	+	2	2	STAB2	102684243	0.985000	0.35326	0.802000	0.32245	0.013000	0.08279	1.448000	0.35112	2.710000	0.92621	0.542000	0.68232	TGA		0.537	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			T	104160113	G	T	104160113	4	4	793	1	0	0	0	0	0	0	0	0	15243	1285	45	4	7929	4	STAB2	12	104160113	Nonstop_Mutation	SNP	G	TCGA-SX-A7SQ-01A-12D-A35Z-10	11345296	104160113	29691782	56	47221											
ATP8A2	51761	hgsc.bcm.edu	37	13	26542768	26542768	+	Frame_Shift_Del	DEL	A	A	-			TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr13:26542768delA	ENST00000381655.2	+	35	3470	c.3328delA	c.(3328-3330)aagfs	p.K1110fs	ATP8A2_ENST00000255283.8_Frame_Shift_Del_p.K1045fs	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	1070					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		GCTGGAAACCAAGTCTCGAGT	0.537																																																0													73	81	79					13																	26542768		1974	4165	6139	SO:0001589	frameshift_variant	51761			AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"ATPases / P-type"	13533	protein-coding gene	gene with protein product		605870	"ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2", "ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.3328delA	chr13.hg19:g.26542768delA	ENSP00000371070:p.Lys1110fs		Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Frame_Shift_Del	DEL	ENST00000381655.2	hg19	CCDS41873.1																																																																																				0.537	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529		-	26542768	A	-	26542768	7	5	793	1	0	1	0	1	0	0	0	0	1193	131	5	0	3466	0	ATP8A2	13	26542768	Frame_Shift_Del	DEL	A	TCGA-SX-A7SQ-01A-12D-A35Z-10		26542768	88627110	57	47222											
FREM2	341640	hgsc.bcm.edu	37	13	39450509	39450509	+	Missense_Mutation	SNP	G	G	T			TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr13:39450509G>T	ENST00000280481.7	+	20	8750	c.8534G>T	c.(8533-8535)cGa>cTa	p.R2845L		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2845					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)		CTTGACATCCGATTCCAACAG	0.433																																																0													110	92	98					13																	39450509		2203	4300	6503	SO:0001583	missense	341640			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.8534G>T	chr13.hg19:g.39450509G>T	ENSP00000280481:p.Arg2845Leu		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	hg19	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	32	5.136846	0.94517	.	.	ENSG00000150893	ENST00000280481	T	0.63913	-0.07	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.82351	0.5018	M	0.86028	2.79	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.83912	0.0296	10	0.62326	D	0.03	.	19.8108	0.96545	0.0:0.0:1.0:0.0	.	2845	Q5SZK8	FREM2_HUMAN	L	2845	ENSP00000280481:R2845L	ENSP00000280481:R2845L	R	+	2	0	FREM2	38348509	1.000000	0.71417	0.998000	0.56505	0.915000	0.54546	9.776000	0.99001	2.698000	0.92095	0.563000	0.77884	CGA		0.433	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		T	39450509	G	T	39450509	3	4	793	1	0	0	0	0	1	0	0	0	6047	1058	37	4	8612	4	FREM2	13	39450509	Missense_Mutation	SNP	G	TCGA-SX-A7SQ-01A-12D-A35Z-10	12907741	39450509	75719369	58	47223											
ARHGEF7	8874	hgsc.bcm.edu	37	13	111926181	111926181	+	Missense_Mutation	SNP	T	T	G			TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr13:111926181T>G	ENST00000375741.2	+	11	1407	c.1157T>G	c.(1156-1158)aTg>aGg	p.M386R	ARHGEF7_ENST00000317133.5_Missense_Mutation_p.M365R|ARHGEF7_ENST00000370623.3_Missense_Mutation_p.M293R|ARHGEF7_ENST00000544132.1_Intron|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.M208R|ARHGEF7_ENST00000478679.1_Missense_Mutation_p.M130R|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.M283R|ARHGEF7_ENST00000375723.1_Missense_Mutation_p.M208R|ARHGEF7_ENST00000218789.5_Missense_Mutation_p.M208R|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.M336R|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.M208R|ARHGEF7_ENST00000483189.1_3'UTR	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	386	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|hematopoietic progenitor cell differentiation (GO:0002244)|lamellipodium assembly (GO:0030032)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of GTPase activity (GO:0043547)|positive regulation of lamellipodium morphogenesis (GO:2000394)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase binding (GO:0019901)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GGGGAGTTCATGGAGACCAAA	0.552																																																0													109	100	103					13																	111926181		2203	4300	6503	SO:0001583	missense	8874			D63476	CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1	13q33.3	2013-01-10			ENSG00000102606	ENSG00000102606		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	15607	protein-coding gene	gene with protein product	"SH3 domain-containing proline-rich protein", "PAK-interacting exchange factor beta", "rho", "guanine nucleotide exchange factor 7"	605477				9207241, 9726964	Standard	NM_003899		Approved	KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50	uc001vrs.2	Q14155	OTTHUMG00000017357	ENST00000375741.2:c.1157T>G	chr13.hg19:g.111926181T>G	ENSP00000364893:p.Met386Arg		B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Missense_Mutation	SNP	ENST00000375741.2	hg19	CCDS45068.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.468353	0.84533	.	.	ENSG00000102606	ENST00000317133;ENST00000375741;ENST00000375739;ENST00000370623;ENST00000545635;ENST00000466143;ENST00000218789;ENST00000375736;ENST00000426073;ENST00000375737;ENST00000375723;ENST00000478679	T;T;T;T;T;T;T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05	4.87	4.87	0.63330	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.81307	0.4795	M	0.87827	2.91	0.80722	D	1	D;D;D;D;D;D	0.89917	0.993;1.0;0.993;0.998;1.0;1.0	D;D;D;D;D;D	0.97110	0.993;1.0;0.993;0.997;1.0;0.999	D	0.85178	0.1002	10	0.87932	D	0	.	14.498	0.67702	0.0:0.0:0.0:1.0	.	130;283;130;336;386;365	E9PDQ5;B7Z6G2;B7Z344;Q14155-2;Q14155;Q14155-3	.;.;.;.;ARHG7_HUMAN;.	R	365;386;336;293;363;208;208;208;208;283;208;130	ENSP00000325994:M365R;ENSP00000364893:M386R;ENSP00000364891:M336R;ENSP00000359657:M293R;ENSP00000418067:M208R;ENSP00000218789:M208R;ENSP00000364888:M208R;ENSP00000397068:M208R;ENSP00000364889:M283R;ENSP00000364875:M208R;ENSP00000417596:M130R	ENSP00000218789:M208R	M	+	2	0	ARHGEF7	110724182	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	7.549000	0.82163	1.823000	0.53134	0.477000	0.44152	ATG		0.552	ARHGEF7-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001113511		G	111926181	T	G	111926181	3	3	793	1	0	0	0	0	1	0	0	0	911	1464	51	5	1199	5	ARHGEF7	13	111926181	Missense_Mutation	SNP	T	TCGA-SX-A7SQ-01A-12D-A35Z-10	72475672	111926181	3243697	59	47224											
TGM1	7051	hgsc.bcm.edu	37	14	24718615	24718615	+	Silent	SNP	C	C	G			TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr14:24718615C>G	ENST00000206765.6	-	15	2481	c.2358G>C	c.(2356-2358)gtG>gtC	p.V786V	TGM1_ENST00000544573.1_Silent_p.V344V	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	786					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|organ morphogenesis (GO:0009887)|peptide cross-linking (GO:0018149)	cell-cell adherens junction (GO:0005913)|cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|intrinsic component of membrane (GO:0031224)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	GGGCTGGGGCCACATCCACCT	0.632																																																0													68	63	65					14																	24718615		2203	4300	6503	SO:0001819	synonymous_variant	7051			D90287	CCDS9622.1	14q11.2	2013-05-02	2013-05-02		ENSG00000092295	ENSG00000092295	2.3.2.13	"Transglutaminases"	11777	protein-coding gene	gene with protein product	"K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase"	190195	"transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)"	ICR2		11390390	Standard	NM_000359		Approved	TGASE, TGK, LI, LI1	uc001wod.3	P22735	OTTHUMG00000029329	ENST00000206765.6:c.2358G>C	chr14.hg19:g.24718615C>G			B4DWR7|Q197M4	Silent	SNP	ENST00000206765.6	hg19	CCDS9622.1																																																																																				0.632	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073160.6	NM_000359		G	24718615	C	G	24718615	2	3	793	1	0	0	0	0	0	0	0	1	15834	581	21	4		4	TGM1	14	24718615	Silent	SNP	C	TCGA-SX-A7SQ-01A-12D-A35Z-10		24718615	82630925	60	47225											
EFTUD1	79631	hgsc.bcm.edu	37	15	82545087	82545087	+	Frame_Shift_Del	DEL	T	T	-			TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr15:82545087delT	ENST00000268206.7	-	4	357	c.189delA	c.(187-189)gaafs	p.E63fs	EFTUD1_ENST00000359445.3_Intron	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	63	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				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						CTCGGATCTGTTCATCTTCTC	0.358																																																0													121	105	110					15																	82545087		1851	4085	5936	SO:0001589	frameshift_variant	79631			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.189delA	chr15.hg19:g.82545087delT	ENSP00000268206:p.Glu63fs		A6NKY5|B7Z6I0|Q9H8Z6	Frame_Shift_Del	DEL	ENST00000268206.7	hg19	CCDS42071.1																																																																																				0.358	EFTUD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419252.1	NM_024580		-	82545087	T	-	82545087	7	5	793	1	0	1	0	1	0	0	0	0	4962	1722	60	0	3241	0	EFTUD1	15	82545087	Frame_Shift_Del	DEL	T	TCGA-SX-A7SQ-01A-12D-A35Z-10		82545087	19986305	61	47226											
ANPEP	290	hgsc.bcm.edu	37	15	90349503	90349503	+	Silent	SNP	C	C	T			TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr15:90349503C>T	ENST00000300060.6	-	2	625	c.312G>A	c.(310-312)aaG>aaA	p.K104K		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	104	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)	TGCTGGAGCCCTTAAAAACGT	0.587																																					NSCLC(30;827 977 2459 19669 26125)											0													96	76	83					15																	90349503		2200	4299	6499	SO:0001819	synonymous_variant	290			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.312G>A	chr15.hg19:g.90349503C>T			Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Silent	SNP	ENST00000300060.6	hg19	CCDS10356.1																																																																																				0.587	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1			T	90349503	C	T	90349503	2	4	793	1	0	0	0	0	0	0	0	1	710	680	24	2		2	ANPEP	15	90349503	Silent	SNP	C	TCGA-SX-A7SQ-01A-12D-A35Z-10	7804416	90349503	12181889	62	47227											
MAN2A2	4122	hgsc.bcm.edu	37	15	91453418	91453418	+	Silent	SNP	G	G	A			TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr15:91453418G>A	ENST00000559717.1	+	10	1932	c.1473G>A	c.(1471-1473)ggG>ggA	p.G491G	MAN2A2_ENST00000431652.2_Intron|MAN2A2_ENST00000430376.2_5'Flank|MAN2A2_ENST00000360468.3_Silent_p.G491G			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	491					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)			TGCTGAGCGGGGATTTCTTCT	0.572																																																0													86	89	88					15																	91453418		2198	4298	6496	SO:0001819	synonymous_variant	4122			L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547			6825	protein-coding gene	gene with protein product		600988				8524845	Standard	NM_006122		Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.1473G>A	chr15.hg19:g.91453418G>A			A6NH12|A8K1E8|Q13754	Silent	SNP	ENST00000559717.1	hg19	CCDS32332.1																																																																																				0.572	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418246.5	NM_006122		A	91453418	G	A	91453418	2	1	793	1	0	0	0	0	0	0	0	1	9217	1219	43	2		2	MAN2A2	15	91453418	Silent	SNP	G	TCGA-SX-A7SQ-01A-12D-A35Z-10	1103915	91453418	11077974	63	47228											
SOLH	6650	hgsc.bcm.edu	37	16	603351	603352	+	Missense_Mutation	DNP	GA	GA	AT			TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	G|A	G|A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr16:603351_603352GA>AT	ENST00000219611.2	+	14	3459_3460	c.3096_3097GA>AT	c.(3094-3099)gtGAtc>gtATtc	p.I1033F	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1	O75808	CAN15_HUMAN	calpain 15	1033					proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										AGGTCCTGGTGATCTTGTCCCA	0.663																																																0																																										SO:0001583	missense	6650			U85647	CCDS10410.1	16p13.3	2013-06-27	2013-06-27	2013-06-27	ENSG00000103326	ENSG00000103326			11182	protein-coding gene	gene with protein product		603267	"small optic lobes (Drosophila) homolog", "small optic lobes homolog (Drosophila)"	SOLH		9722942	Standard	NM_005632		Approved		uc002chi.3	O75808	OTTHUMG00000119059	Exception_encountered	chr16.hg19:g.603351_603352delinsAT	ENSP00000219611:p.Ile1033Phe		B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0	Silent|Missense_Mutation	SNP	ENST00000219611.2	hg19	CCDS10410.1																																																																																				0.663	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239271.1	NM_005632		AT	603352	GA	AT	603351	3	1	793	1	0	0	0	0	1	0	0	0	14931	1277	45	2	3138	2	SOLH	16	603351	Missense_Mutation	DNP	GA	TCGA-SX-A7SQ-01A-12D-A35Z-10		603351	89751402	64	47229											
UNKL	64718	hgsc.bcm.edu	37	16	1464001	1464001	+	Missense_Mutation	SNP	C	C	G			TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr16:1464001C>G	ENST00000389221.4	-	2	132	c.133G>C	c.(133-135)Gcg>Ccg	p.A45P	UNKL_ENST00000301712.5_Missense_Mutation_p.A45P|UNKL_ENST00000503648.1_5'UTR|UNKL_ENST00000397462.1_Missense_Mutation_p.A45P|LA16c-312E8.2_ENST00000568554.1_RNA|UNKL_ENST00000508903.2_Missense_Mutation_p.A45P	NM_001193388.1	NP_001180317	Q9H9P5	UNKL_HUMAN	unkempt family zinc finger-like	45					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)				CGGTGCTGCGCGCACTTGTGC	0.657											OREG0023546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													23	20	21					16																	1464001		2088	4094	6182	SO:0001583	missense	64718			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.133G>C	chr16.hg19:g.1464001C>G	ENSP00000373873:p.Ala45Pro	596	B0QYN6|B1GXI8|Q96EV1|Q96RZ1|Q9BWL5|Q9H5K0|Q9UJJ8	Missense_Mutation	SNP	ENST00000389221.4	hg19	CCDS53981.1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.096929	0.56075	.	.	ENSG00000059145	ENST00000389221;ENST00000508903;ENST00000397462;ENST00000301712	T	0.64085	-0.08	3.98	-3.9	0.04181	.	0.482216	0.19853	N	0.104584	T	0.47563	0.1452	N	0.24115	0.695	0.80722	D	1	P	0.45634	0.863	P	0.47470	0.548	T	0.45585	-0.9251	10	0.30078	T	0.28	.	11.3882	0.49798	0.0:0.2219:0.0:0.7781	.	45	Q9H9P5-5	.	P	45	ENSP00000373873:A45P	ENSP00000301712:A45P	A	-	1	0	UNKL	1404002	1.000000	0.71417	0.469000	0.27204	0.948000	0.59901	1.162000	0.31786	-0.653000	0.05401	-0.253000	0.11424	GCG		0.657	UNKL-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001037125		G	1464001	C	G	1464001	3	3	793	1	0	0	0	0	1	0	0	0	17006	768	27	4	1435	4	UNKL	16	1464001	Missense_Mutation	SNP	C	TCGA-SX-A7SQ-01A-12D-A35Z-10	860650	1464001	88890752	65	47230											
SCNN1B	6338	hgsc.bcm.edu	37	16	23387172	23387172	+	Missense_Mutation	SNP	C	C	A			TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr16:23387172C>A	ENST00000343070.2	+	8	1442	c.1266C>A	c.(1264-1266)gaC>gaA	p.D422E	SCNN1B_ENST00000307331.5_Missense_Mutation_p.D467E|SCNN1B_ENST00000568085.1_Missense_Mutation_p.D386E|SCNN1B_ENST00000568923.1_Missense_Mutation_p.D395E	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	422					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)	ACTTCCCAGACTGGGGTGAGC	0.617																																																0													78	72	74					16																	23387172		2197	4300	6497	SO:0001583	missense	6338			X87159	CCDS10609.1	16p12.2-p12.1	2012-02-28	2012-02-28		ENSG00000168447	ENSG00000168447		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10600	protein-coding gene	gene with protein product	"Liddle syndrome"	600760	"sodium channel, nonvoltage-gated 1, beta", "sodium channel, non-voltage-gated 1, beta"				Standard	NM_000336		Approved	ENaCbeta	uc002dln.3	P51168	OTTHUMG00000131608	ENST00000343070.2:c.1266C>A	chr16.hg19:g.23387172C>A	ENSP00000345751:p.Asp422Glu		C5HTZ2|O60891|Q96KG2|Q9UJ32|Q9UMU5	Missense_Mutation	SNP	ENST00000343070.2	hg19	CCDS10609.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.899251	0.72754	.	.	ENSG00000168447	ENST00000343070;ENST00000307331	T;T	0.69175	-0.36;-0.38	4.65	4.65	0.58169	.	0.078108	0.52532	D	0.000074	T	0.64271	0.2583	L	0.41236	1.265	0.46044	D	0.998833	B	0.25048	0.117	B	0.35655	0.207	T	0.63466	-0.6631	10	0.42905	T	0.14	-18.6204	16.8451	0.85978	0.0:1.0:0.0:0.0	.	422	P51168	SCNNB_HUMAN	E	422;467	ENSP00000345751:D422E;ENSP00000302874:D467E	ENSP00000302874:D467E	D	+	3	2	SCNN1B	23294673	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	2.267000	0.43329	2.277000	0.76020	0.651000	0.88453	GAC		0.617	SCNN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254495.2			A	23387172	C	A	23387172	3	1	793	1	0	0	0	0	1	0	0	0	13934	564	20	4	1292	4	SCNN1B	16	23387172	Missense_Mutation	SNP	C	TCGA-SX-A7SQ-01A-12D-A35Z-10	21923171	23387172	66967581	66	47231											
NUP93	9688	hgsc.bcm.edu	37	16	56864565	56864565	+	Missense_Mutation	SNP	G	G	T			TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr16:56864565G>T	ENST00000308159.5	+	10	1174	c.1053G>T	c.(1051-1053)tgG>tgT	p.W351C	NUP93_ENST00000569842.1_Missense_Mutation_p.W351C|NUP93_ENST00000564887.1_Missense_Mutation_p.W228C|NUP93_ENST00000542526.1_Missense_Mutation_p.W228C	NM_014669.4	NP_055484.3	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	351					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						TTAAAACCTGGTTCCAGGAGT	0.532																																					Colon(33;610 796 1305 1705 38917)											0													96	92	93					16																	56864565		2198	4300	6498	SO:0001583	missense	9688			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.1053G>T	chr16.hg19:g.56864565G>T	ENSP00000310668:p.Trp351Cys		B3KPQ8|Q14705	Missense_Mutation	SNP	ENST00000308159.5	hg19	CCDS10769.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.208959	0.39003	.	.	ENSG00000102900	ENST00000308159;ENST00000542526	T;T	0.41065	1.01;1.01	5.11	5.11	0.69529	.	0.052513	0.85682	D	0.000000	T	0.26195	0.0639	N	0.11560	0.145	0.80722	D	1	B	0.06786	0.001	B	0.11329	0.006	T	0.05550	-1.0878	10	0.41790	T	0.15	-9.7303	13.8537	0.63513	0.0:0.0:0.8473:0.1527	.	351	Q8N1F7	NUP93_HUMAN	C	351;228	ENSP00000310668:W351C;ENSP00000440235:W228C	ENSP00000310668:W351C	W	+	3	0	NUP93	55422066	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.583000	0.74053	2.525000	0.85131	0.650000	0.86243	TGG		0.532	NUP93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257058.4	NM_014669		T	56864565	G	T	56864565	3	4	793	1	0	0	0	0	1	0	0	0	10774	1270	44	4	1087	4	NUP93	16	56864565	Missense_Mutation	SNP	G	TCGA-SX-A7SQ-01A-12D-A35Z-10	33477393	56864565	33490188	67	47232											
C17orf100	388327	hgsc.bcm.edu	37	17	6555545	6555545	+	Silent	SNP	G	G	C	rs74923988		TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr17:6555545G>C	ENST00000391428.2	+	1	575	c.312G>C	c.(310-312)ccG>ccC	p.P104P	MED31_ENST00000574128.1_5'Flank|MED31_ENST00000225728.3_5'Flank|MED31_ENST00000575197.1_5'Flank|CTC-281F24.1_ENST00000576138.1_RNA	NM_001105520.1	NP_001098990.1	A8MU93	CQ100_HUMAN	chromosome 17 open reading frame 100	104																	GCCCGACCCCGCGGCCAAGCC	0.672																																																0													12	15	14					17																	6555545		1832	3972	5804	SO:0001819	synonymous_variant	388327			BC028174, BC038956, BC052606	CCDS73952.1	17p13.2	2014-04-10			ENSG00000212734	ENSG00000256806			34494	protein-coding gene	gene with protein product							Standard	NM_001105520		Approved	LOC388327	uc010clp.1	A8MU93	OTTHUMG00000188340	ENST00000391428.2:c.312G>C	chr17.hg19:g.6555545G>C				Silent	SNP	ENST00000391428.2	hg19																																																																																					0.672	C17orf100-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255575.2	NM_001105520		C	6555545	G	C	6555545	2	2	793	1	0	0	0	0	0	0	0	1	1849	1074	38	4		4	C17orf100	17	6555545	Silent	SNP	G	TCGA-SX-A7SQ-01A-12D-A35Z-10		6555545	74639665	68	47233											
PRPSAP2	5636	hgsc.bcm.edu	37	17	18770619	18770619	+	Silent	SNP	A	A	G			TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr17:18770619A>G	ENST00000268835.2	+	4	427	c.144A>G	c.(142-144)aaA>aaG	p.K48K	PRPSAP2_ENST00000542013.1_Silent_p.K48K|PRPSAP2_ENST00000419071.2_Intron|PRPSAP2_ENST00000536323.1_Intron	NM_002767.3	NP_002758.1	O60256	KPRB_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 2	48					bone development (GO:0060348)|negative regulation of catalytic activity (GO:0043086)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide biosynthetic process (GO:0009165)	ribose phosphate diphosphokinase complex (GO:0002189)	enzyme inhibitor activity (GO:0004857)|magnesium ion binding (GO:0000287)|ribose phosphate diphosphokinase activity (GO:0004749)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						AGATGGGCAAAGTGCAGGTTT	0.453																																																0													156	153	154					17																	18770619		2203	4300	6503	SO:0001819	synonymous_variant	5636			AB007851	CCDS11200.1, CCDS58525.1, CCDS58526.1, CCDS58527.1	17p12-p11.2	2008-05-14			ENSG00000141127	ENSG00000141127			9467	protein-coding gene	gene with protein product		603762				9806849	Standard	NM_002767		Approved	PAP41	uc002gup.2	O60256	OTTHUMG00000059406	ENST00000268835.2:c.144A>G	chr17.hg19:g.18770619A>G			B4E1M8|B4E329|B7ZKZ1|E7EMY2|Q6IAS2	Silent	SNP	ENST00000268835.2	hg19	CCDS11200.1																																																																																				0.453	PRPSAP2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132112.3	NM_002767		G	18770619	A	G	18770619	2	3	793	1	0	0	0	0	0	0	0	1	12587	69	3	3		3	PRPSAP2	17	18770619	Silent	SNP	A	TCGA-SX-A7SQ-01A-12D-A35Z-10	12215074	18770619	62424591	69	47234											
SRCIN1	80725	hgsc.bcm.edu	37	17	36714573	36714573	+	Silent	SNP	C	C	A			TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr17:36714573C>A	ENST00000264659.7	-	11	2315	c.2091G>T	c.(2089-2091)gtG>gtT	p.V697V	SRCIN1_ENST00000578925.1_Silent_p.V731V|SRCIN1_ENST00000398579.4_5'UTR	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	569					exocytosis (GO:0006887)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell migration (GO:0030334)|regulation of dendritic spine morphogenesis (GO:0061001)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	protein kinase binding (GO:0019901)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						CCGCCTCCGACACGCGCATGC	0.692											OREG0024362	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													24	27	26					17																	36714573		2099	4219	6318	SO:0001819	synonymous_variant	80725				CCDS45660.1	17q12	2009-12-14			ENSG00000017373	ENSG00000277363			29506	protein-coding gene	gene with protein product	"p130Cas-associated protein", "SNAP-25-interacting protein"	610786				11214970	Standard	NM_025248		Approved	SNIP, p140Cap, KIAA1684	uc002hqd.3	Q9C0H9		ENST00000264659.7:c.2091G>T	chr17.hg19:g.36714573C>A		865	Q75T46|Q8N4W8	Silent	SNP	ENST00000264659.7	hg19	CCDS45660.1																																																																																				0.692	SRCIN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441878.4	NM_025248		A	36714573	C	A	36714573	2	1	793	1	0	0	0	0	0	0	0	1	15141	465	17	4		4	SRCIN1	17	36714573	Silent	SNP	C	TCGA-SX-A7SQ-01A-12D-A35Z-10	17943954	36714573	44480637	70	47235											
HAP1	9001	hgsc.bcm.edu	37	17	39887810	39887810	+	Splice_Site	SNP	G	G	A			TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr17:39887810G>A	ENST00000310778.5	-	6	1013	c.1004C>T	c.(1003-1005)gCc>gTc	p.A335V	HAP1_ENST00000341193.5_Splice_Site_p.A343V|RN7SL399P_ENST00000471648.2_RNA|HAP1_ENST00000347901.4_Splice_Site_p.A335V|HAP1_ENST00000393939.2_Splice_Site_p.A335V|JUP_ENST00000540235.1_Intron			P54257	HAP1_HUMAN	huntingtin-associated protein 1	335	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)			GAGTTGAGAGGCCTGGAGGGA	0.547																																																0													137	112	120					17																	39887810		2203	4300	6503	SO:0001630	splice_region_variant	9001			AF040723	CCDS11406.1, CCDS42338.1, CCDS42339.1	17q21.2-q21.3	2008-04-23	2008-04-23		ENSG00000173805	ENSG00000173805			4812	protein-coding gene	gene with protein product	"neuroan 1"	600947		HAP2		7477378, 9668110	Standard	NM_177977		Approved	HLP, hHLP1, HIP5	uc002hxn.1	P54257	OTTHUMG00000133498	ENST00000310778.5:c.1003-1C>T	chr17.hg19:g.39887810G>A			A8MQB5|O75358|Q59GK4|Q9H4G3|Q9HA98|Q9NY90	Missense_Mutation	SNP	ENST00000310778.5	hg19		.	.	.	.	.	.	.	.	.	.	G	14.47	2.546491	0.45383	.	.	ENSG00000173805	ENST00000393939;ENST00000310778;ENST00000347901;ENST00000341193	T;T;T;T	0.30981	1.51;1.51;1.51;1.51	4.14	3.09	0.35607	.	0.219300	0.23282	N	0.049895	T	0.43122	0.1233	L	0.46947	1.48	0.42390	D	0.992525	D;D;P;P	0.71674	0.998;0.998;0.709;0.601	D;D;P;P	0.80764	0.994;0.994;0.528;0.659	T	0.29640	-1.0005	10	0.62326	D	0.03	-10.2963	7.3085	0.26461	0.1301:0.0:0.8699:0.0	.	335;343;335;335	P54257-3;P54257-4;P54257-2;P54257	.;.;.;HAP1_HUMAN	V	335;335;335;343	ENSP00000377513:A335V;ENSP00000309392:A335V;ENSP00000334002:A335V;ENSP00000343170:A343V	ENSP00000309392:A335V	A	-	2	0	HAP1	37141336	1.000000	0.71417	0.973000	0.42090	0.889000	0.51656	3.914000	0.56401	0.844000	0.35094	0.655000	0.94253	GCC		0.547	HAP1-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000389619.1	NM_003949	Missense_Mutation	A	39887810	G	A	39887810	5	1	793	1	0	0	0	0	0	0	1	0	6955	1217	42	2	879	2	HAP1	17	39887810	Splice_Site	SNP	G	TCGA-SX-A7SQ-01A-12D-A35Z-10	3173237	39887810	41307400	71	47236											
EZH1	2145	hgsc.bcm.edu	37	17	40864332	40864332	+	Missense_Mutation	SNP	A	A	G			TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr17:40864332A>G	ENST00000428826.2	-	12	1497	c.1376T>C	c.(1375-1377)cTt>cCt	p.L459P	EZH1_ENST00000585893.1_Missense_Mutation_p.L419P|EZH1_ENST00000590078.1_Missense_Mutation_p.L389P|EZH1_ENST00000415827.2_Missense_Mutation_p.L450P|EZH1_ENST00000590783.1_5'Flank|EZH1_ENST00000592743.1_Missense_Mutation_p.L459P|EZH1_ENST00000435174.1_Missense_Mutation_p.L320P			Q92800	EZH1_HUMAN	enhancer of zeste 1 polycomb repressive complex 2 subunit	459					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)		GGTCCCCAGAAGCCTGGCTAT	0.527																																																0													128	115	119					17																	40864332		2203	4300	6503	SO:0001583	missense	2145				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.1376T>C	chr17.hg19:g.40864332A>G	ENSP00000404658:p.Leu459Pro		A6NCH6|B4DIJ1|B4DIZ7|B4DSS2|B4E3R7|O43287|Q14459|Q53XP3	Missense_Mutation	SNP	ENST00000428826.2	hg19	CCDS32659.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.529451	0.85706	.	.	ENSG00000108799	ENST00000264646;ENST00000428826;ENST00000415827;ENST00000435174	T;T	0.80909	-1.43;-1.43	5.42	5.42	0.78866	SANT domain, DNA binding (1);	0.000000	0.85682	D	0.000000	D	0.88815	0.6539	M	0.78637	2.42	0.80722	D	1	D;P;P;P;P	0.62365	0.991;0.841;0.841;0.507;0.868	D;P;P;P;P	0.67382	0.951;0.776;0.776;0.599;0.602	D	0.88699	0.3214	10	0.42905	T	0.14	.	15.6252	0.76851	1.0:0.0:0.0:0.0	.	320;419;465;389;459	Q92800-5;Q92800-3;Q92800-2;Q92800-4;Q92800	.;.;.;.;EZH1_HUMAN	P	462;459;419;320	ENSP00000404658:L459P;ENSP00000404071:L320P	ENSP00000264646:L462P	L	-	2	0	EZH1	38117858	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.103000	0.94232	2.275000	0.75901	0.528000	0.53228	CTT		0.527	EZH1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452347.1	NM_001991		G	40864332	A	G	40864332	3	3	793	1	0	0	0	0	1	0	0	0	5335	72	3	3	907	3	EZH1	17	40864332	Missense_Mutation	SNP	A	TCGA-SX-A7SQ-01A-12D-A35Z-10	976522	40864332	40330878	72	47237											
MPP2	4355	hgsc.bcm.edu	37	17	41975630	41975630	+	Splice_Site	SNP	C	C	T			TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr17:41975630C>T	ENST00000461854.1	-	3	235	c.150G>A	c.(148-150)aaG>aaA	p.K50K	MPP2_ENST00000473246.1_5'UTR|MPP2_ENST00000518766.1_Splice_Site_p.K95K|MPP2_ENST00000269095.4_Splice_Site_p.K50K|MPP2_ENST00000520305.1_Intron|MPP2_ENST00000377184.3_Splice_Site_p.K67K|MPP2_ENST00000536246.1_Splice_Site_p.K39K|MPP2_ENST00000523501.1_Splice_Site_p.K39K			Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	50	L27 1. {ECO:0000255|PROSITE- ProRule:PRU00365}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		AGCACTGTACCTTGGCCAGGG	0.572																																																0													122	108	113					17																	41975630		2203	4300	6503	SO:0001630	splice_region_variant	4355				CCDS11471.1, CCDS62206.1, CCDS62207.1, CCDS62208.1, CCDS62209.1, CCDS62210.1	17q12-q21	2008-07-18			ENSG00000108852	ENSG00000108852			7220	protein-coding gene	gene with protein product	"MAGUK p55 subfamily member 2", "discs large, homolog 2"	600723		DLG2		7590743	Standard	NM_001278370		Approved	DKFZp761D0712	uc002ieo.1	Q14168	OTTHUMG00000133840	ENST00000461854.1:c.150+1G>A	chr17.hg19:g.41975630C>T			B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Silent	SNP	ENST00000461854.1	hg19																																																																																					0.572	MPP2-003	KNOWN	non_canonical_polymorphism|basic	protein_coding	protein_coding	OTTHUMT00000258388.2	NM_005374	Silent	T	41975630	C	T	41975630	5	4	793	1	0	0	0	0	0	0	1	0	9736	695	24	2	1552	2	MPP2	17	41975630	Splice_Site	SNP	C	TCGA-SX-A7SQ-01A-12D-A35Z-10	1111298	41975630	39219580	73	47238											
TANC2	26115	hgsc.bcm.edu	37	17	61497660	61497660	+	Silent	SNP	C	C	T			TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr17:61497660C>T	ENST00000424789.2	+	25	4321	c.4317C>T	c.(4315-4317)gtC>gtT	p.V1439V	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Silent_p.V1449V	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1439					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						GGCTCCCGGTCATCCAGAGCC	0.567																																																0													54	55	55					17																	61497660		1934	4150	6084	SO:0001819	synonymous_variant	26115			AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30212	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.4317C>T	chr17.hg19:g.61497660C>T			Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Silent	SNP	ENST00000424789.2	hg19	CCDS45754.1																																																																																				0.567	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1			T	61497660	C	T	61497660	2	4	793	1	0	0	0	0	0	0	0	1	15550	813	29	2		2	TANC2	17	61497660	Silent	SNP	C	TCGA-SX-A7SQ-01A-12D-A35Z-10	19522030	61497660	19697550	74	47239											
DDX5	1655	hgsc.bcm.edu	37	17	62496291	62496291	+	Missense_Mutation	SNP	T	T	C			TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr17:62496291T>C	ENST00000225792.5	-	13	1996	c.1595A>G	c.(1594-1596)aAt>aGt	p.N532S	DDX5_ENST00000450599.2_Missense_Mutation_p.N453S|MIR5047_ENST00000579212.1_RNA|DDX5_ENST00000578804.1_Missense_Mutation_p.N532S|MIR3064_ENST00000581130.1_RNA|DDX5_ENST00000580026.1_5'UTR	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	532	Transactivation domain.				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)			GTAAACACCATTCTGAGTTTT	0.423			T	ETV4	prostate																																NSCLC(22;406 813 4871 19580 40307)		Dom	yes		17	17q21	1655	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5		E	0													138	142	141					17																	62496291		2203	4300	6503	SO:0001583	missense	1655			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.1595A>G	chr17.hg19:g.62496291T>C	ENSP00000225792:p.Asn532Ser		B4DLW8|B5BU21|D3DU32|E7ETL9|O75681|Q53Y61	Missense_Mutation	SNP	ENST00000225792.5	hg19	CCDS11659.1	.	.	.	.	.	.	.	.	.	.	T	7.653	0.683306	0.14907	.	.	ENSG00000108654	ENST00000540698;ENST00000450599;ENST00000225792	.	.	.	5.56	4.46	0.54185	.	0.443060	0.27478	N	0.019189	T	0.37732	0.1014	N	0.12182	0.205	0.80722	D	1	B;B;B	0.17465	0.016;0.022;0.022	B;B;B	0.21151	0.011;0.033;0.033	T	0.11518	-1.0584	9	0.14656	T	0.56	-18.6472	13.0086	0.58720	0.0:0.0:0.1349:0.8651	.	453;532;532	B4DLW8;B5BUE6;P17844	.;.;DDX5_HUMAN	S	532;462;521	.	ENSP00000225792:N521S	N	-	2	0	DDX5	59926753	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.816000	0.69222	1.030000	0.39839	0.477000	0.44152	AAT		0.423	DDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444030.1	NM_004396		C	62496291	T	C	62496291	3	2	793	1	0	0	0	0	1	0	0	0	4369	1493	52	3	253	3	DDX5	17	62496291	Missense_Mutation	SNP	T	TCGA-SX-A7SQ-01A-12D-A35Z-10	998631	62496291	18698919	75	47240											
ABCA5	23461	hgsc.bcm.edu	37	17	67286078	67286078	+	Frame_Shift_Del	DEL	A	A	-			TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr17:67286078delA	ENST00000392676.3	-	13	1771	c.1707delT	c.(1705-1707)gatfs	p.D569fs	ABCA5_ENST00000392677.2_Frame_Shift_Del_p.D569fs|ABCA5_ENST00000588877.1_Frame_Shift_Del_p.D569fs			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	569	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	CTGTCAAAACATCAAAGTGTA	0.313																																																0													104	100	101					17																	67286078		2202	4291	6493	SO:0001589	frameshift_variant	23461			U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"ATP binding cassette transporters / subfamily A"	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.1707delT	chr17.hg19:g.67286078delA	ENSP00000376443:p.Asp569fs		Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Frame_Shift_Del	DEL	ENST00000392676.3	hg19	CCDS11685.1																																																																																				0.313	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672		-	67286078	A	-	67286078	7	5	793	1	0	1	0	1	0	0	0	0	35	214	8	0	3329	0	ABCA5	17	67286078	Frame_Shift_Del	DEL	A	TCGA-SX-A7SQ-01A-12D-A35Z-10	4789787	67286078	13909132	76	47241											
RNF213	57674	hgsc.bcm.edu	37	17	78332113	78332113	+	Missense_Mutation	SNP	G	G	A			TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr17:78332113G>A	ENST00000582970.1	+	37	11031	c.10888G>A	c.(10888-10890)Ggt>Agt	p.G3630S	CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.G3679S|RNF213_ENST00000336301.6_Missense_Mutation_p.G1703S	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3630					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GCGGGTCCAAGGTGCTGTCAC	0.572																																																0													72	63	66					17																	78332113		2203	4300	6503	SO:0001583	missense	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.10888G>A	chr17.hg19:g.78332113G>A	ENSP00000464087:p.Gly3630Ser		C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	hg19	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	G	6.321	0.427276	0.11987	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.19532	2.14	5.58	0.672	0.17935	.	0.974902	0.08475	N	0.940385	T	0.09468	0.0233	N	0.19112	0.55	0.09310	N	1	B;B	0.24823	0.112;0.006	B;B	0.17722	0.019;0.005	T	0.34104	-0.9842	10	0.02654	T	1	.	4.1346	0.10164	0.5287:0.1834:0.2879:0.0	.	3679;1703	C9JCP4;Q63HN8	.;RN213_HUMAN	S	3630;3679;1703	ENSP00000338218:G1703S	ENSP00000338218:G1703S	G	+	1	0	RNF213	75946708	0.964000	0.33143	0.001000	0.08648	0.041000	0.13682	1.847000	0.39299	0.010000	0.14839	-0.185000	0.12909	GGT		0.572	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		A	78332113	G	A	78332113	3	1	793	1	0	0	0	0	1	0	0	0	13483	1000	35	2	11349	2	RNF213	17	78332113	Missense_Mutation	SNP	G	TCGA-SX-A7SQ-01A-12D-A35Z-10	11046035	78332113	2863097	77	47242											
KIAA0802	23255	hgsc.bcm.edu	37	18	8819148	8819148	+	Missense_Mutation	SNP	G	G	T			TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr18:8819148G>T	ENST00000306329.11	+	11	4004	c.4004G>T	c.(4003-4005)aGg>aTg	p.R1335M	SOGA2_ENST00000306285.7_Missense_Mutation_p.R341M|SOGA2_ENST00000518815.1_Missense_Mutation_p.R341M|SOGA2_ENST00000400050.3_Missense_Mutation_p.R975M|SOGA2_ENST00000517570.1_Missense_Mutation_p.R975M|SOGA2_ENST00000359865.3_Missense_Mutation_p.R1016M																							GAGTCGGACAGGTGCTCGGCC	0.622																																																0													52	49	50					18																	8819148		2203	4300	6503	SO:0001583	missense	23255																														ENST00000306329.11:c.4004G>T	chr18.hg19:g.8819148G>T	ENSP00000305027:p.Arg1335Met			Missense_Mutation	SNP	ENST00000306329.11	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.5|25.5	4.642986|4.642986	0.87859|0.87859	.|.	.|.	ENSG00000168502|ENSG00000168502	ENST00000519823|ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050;ENST00000306285	.|T;T;T;T	.|0.50813	.|0.73;0.73;0.73;0.73	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	.|0.000000	.|0.53938	.|D	.|0.000058	T|T	0.65668|0.65668	0.2713|0.2713	L|L	0.49640|0.49640	1.575|1.575	0.40122|0.40122	D|D	0.976615|0.976615	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.996;0.999	T|T	0.60747|0.60747	-0.7202|-0.7202	5|10	.|0.39692	.|T	.|0.17	-41.8804|-41.8804	20.3473|20.3473	0.98799|0.98799	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1326;1016	.|Q9Y4B5;Q9Y4B5-3	.|CC165_HUMAN;.	H|M	121|1037;975;1016;975;341	.|ENSP00000429556:R975M;ENSP00000352927:R1016M;ENSP00000382924:R975M;ENSP00000303670:R341M	.|ENSP00000303670:R341M	Q|R	+|+	3|2	2|0	CCDC165|CCDC165	8809148|8809148	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	6.417000|6.417000	0.73337|0.73337	2.884000|2.884000	0.98904|0.98904	0.655000|0.655000	0.94253|0.94253	CAG|AGG		0.622	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			T	8819148	G	T	8819148	3	4	793	1	0	0	0	0	1	0	0	0	8196	1000	35	4	3089	4	KIAA0802	18	8819148	Missense_Mutation	SNP	G	TCGA-SX-A7SQ-01A-12D-A35Z-10		8819148	69258100	78	47243											
C19orf44	84167	hgsc.bcm.edu	37	19	16617533	16617539	+	Frame_Shift_Del	DEL	CGCTTGA	CGCTTGA	-	rs201618251|rs537357343		TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	CGCTTGA	CGCTTGA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr19:16617533_16617539delCGCTTGA	ENST00000221671.3	+	4	1253_1259	c.1097_1103delCGCTTGA	c.(1096-1104)tcgcttgacfs	p.SLD366fs	C19orf44_ENST00000594035.1_Frame_Shift_Del_p.SLD366fs|CTD-3222D19.2_ENST00000409035.1_Intron	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	366										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						AATATTTTATCGCTTGACGGTCTGGCT	0.324																																																0																																										SO:0001589	frameshift_variant	84167			AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5		ENST00000221671.3:c.1097_1103delCGCTTGA	chr19.hg19:g.16617533_16617539delCGCTTGA	ENSP00000221671:p.Ser366fs		Q8N6Y7	Frame_Shift_Del	DEL	ENST00000221671.3	hg19	CCDS12345.1																																																																																				0.324	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461218.1	NM_032207		-	16617539	CGCTTGA	-	16617533	7	5	793	1	0	1	0	1	0	0	0	0	1929	893	31	0	1107	0	C19orf44	19	16617533	Frame_Shift_Del	DEL	CGCTTGA	TCGA-SX-A7SQ-01A-12D-A35Z-10		16617533	42511450	79	47244											
ZNF14	7561	hgsc.bcm.edu	37	19	19823847	19823847	+	Silent	SNP	T	T	A			TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr19:19823847T>A	ENST00000344099.3	-	4	381	c.243A>T	c.(241-243)ggA>ggT	p.G81G		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	81					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				TAGTGGTTTCTCCACATTTGC	0.353																																																0													118	111	113					19																	19823847		2203	4300	6503	SO:0001819	synonymous_variant	7561			AA286756	CCDS12409.1	19p13.11	2013-01-08	2006-05-10					"Zinc fingers, C2H2-type", "-"	12924	protein-coding gene	gene with protein product		194556	"zinc finger protein 14 (KOX 6)"				Standard	NM_021030		Approved	KOX6, GIOT-4	uc002nnk.1	P17017		ENST00000344099.3:c.243A>T	chr19.hg19:g.19823847T>A			B9EGA4|Q9ULZ5	Silent	SNP	ENST00000344099.3	hg19	CCDS12409.1																																																																																				0.353	ZNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460775.1	NM_021030		A	19823847	T	A	19823847	2	1	793	1	0	0	0	0	0	0	0	1	17733	1538	54	5		5	ZNF14	19	19823847	Silent	SNP	T	TCGA-SX-A7SQ-01A-12D-A35Z-10	3206314	19823847	39305136	80	47245											
C19orf46	163183	hgsc.bcm.edu	37	19	36497828	36497828	+	Silent	SNP	G	G	T			TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr19:36497828G>T	ENST00000324444.3	-	4	553	c.442C>A	c.(442-444)Cga>Aga	p.R148R	SYNE4_ENST00000340477.5_Intron|ALKBH6_ENST00000495116.2_5'Flank|AC002116.8_ENST00000473572.2_RNA	NM_001039876.1	NP_001034965.1	Q8N205	SYNE4_HUMAN	spectrin repeat containing, nuclear envelope family member 4	148					establishment of epithelial cell apical/basal polarity (GO:0045198)	integral component of nuclear outer membrane (GO:0031309)											GCTGCCCCTCGTAGGTCCACC	0.647																																																0													13	20	18					19																	36497828		2001	4045	6046	SO:0001819	synonymous_variant	163183			BC038360	CCDS42553.1	19q13.12	2014-01-28	2012-05-31	2012-05-31	ENSG00000181392	ENSG00000181392			26703	protein-coding gene	gene with protein product		615535	"chromosome 19 open reading frame 46", "deafness, autosomal recessive 76"	C19orf46, DFNB76		23348741	Standard	XM_005258597		Approved	FLJ36445, Nesprin-4, Nesp4	uc002ocq.1	Q8N205	OTTHUMG00000048135	ENST00000324444.3:c.442C>A	chr19.hg19:g.36497828G>T			A8MRS0|A8MYE3|Q7Z7L3	Silent	SNP	ENST00000324444.3	hg19	CCDS42553.1																																																																																				0.647	SYNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109525.3	NM_001039876		T	36497828	G	T	36497828	2	4	793	1	0	0	0	0	0	0	0	1	1931	1153	40	4		4	C19orf46	19	36497828	Silent	SNP	G	TCGA-SX-A7SQ-01A-12D-A35Z-10	16673981	36497828	22631155	81	47246											
GPCPD1	56261	hgsc.bcm.edu	37	20	5574056	5574056	+	Splice_Site	SNP	T	T	C			TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr20:5574056T>C	ENST00000379019.4	-	4	360	c.148A>G	c.(148-150)Atg>Gtg	p.M50V		NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN	glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)	50	CBM20. {ECO:0000255|PROSITE- ProRule:PRU00594}.				glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)	glycerophosphocholine phosphodiesterase activity (GO:0047389)|starch binding (GO:2001070)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						TTCCATAGCATGCTGTGAAGA	0.348																																																0													106	106	106					20																	5574056		2203	4300	6503	SO:0001630	splice_region_variant	56261				CCDS13090.1	20p12.3	2011-01-25			ENSG00000125772	ENSG00000125772			26957	protein-coding gene	gene with protein product		614124				10718198, 20576599	Standard	NM_019593		Approved	KIAA1434, GDE5, GDPD6	uc002wme.4	Q9NPB8	OTTHUMG00000031806	ENST00000379019.4:c.147-1A>G	chr20.hg19:g.5574056T>C			D3DW06|Q9BQL8|Q9NUX0	Missense_Mutation	SNP	ENST00000379019.4	hg19	CCDS13090.1	.	.	.	.	.	.	.	.	.	.	T	5.033	0.191778	0.09547	.	.	ENSG00000125772	ENST00000379019	D	0.93076	-3.16	5.35	1.93	0.25924	Carbohydrate-binding-like fold (1);Glycoside hydrolase, carbohydrate-binding (2);Immunoglobulin-like fold (1);	0.886744	0.10053	N	0.721935	T	0.81842	0.4908	N	0.04508	-0.205	0.19945	N	0.999944	B	0.02656	0.0	B	0.01281	0.0	T	0.70483	-0.4859	10	0.28530	T	0.3	-3.2258	5.3794	0.16183	0.0:0.2796:0.2234:0.497	.	50	Q9NPB8	GPCP1_HUMAN	V	50	ENSP00000368305:M50V	ENSP00000368305:M50V	M	-	1	0	GPCPD1	5522056	0.000000	0.05858	0.991000	0.47740	0.901000	0.52897	-0.520000	0.06252	0.879000	0.35944	0.454000	0.30748	ATG		0.348	GPCPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077869.1	NM_019593	Missense_Mutation	C	5574056	T	C	5574056	5	2	793	1	0	0	0	0	0	0	1	0	6605	1478	51	3	1938	3	GPCPD1	20	5574056	Splice_Site	SNP	T	TCGA-SX-A7SQ-01A-12D-A35Z-10		5574056	57451464	82	47247											
RBM39	9584	hgsc.bcm.edu	37	20	34313043	34313043	+	Missense_Mutation	SNP	C	C	G			TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr20:34313043C>G	ENST00000253363.6	-	7	474	c.451G>C	c.(451-453)Gat>Cat	p.D151H	RBM39_ENST00000407261.4_5'UTR|RBM39_ENST00000528062.3_Missense_Mutation_p.D129H|RBM39_ENST00000361162.6_Missense_Mutation_p.D151H			Q14498	RBM39_HUMAN	RNA binding motif protein 39	151					mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					GTCCTTGCATCTCTTTCCTCA	0.318																																																0													95	94	94					20																	34313043		2202	4300	6502	SO:0001583	missense	9584			L10910	CCDS13265.1, CCDS13266.1, CCDS56186.1	20q11.22	2014-07-03	2006-07-11	2006-07-11	ENSG00000131051	ENSG00000131051		"RNA binding motif (RRM) containing"	15923	protein-coding gene	gene with protein product	"coactivator of activating protein-1 and estrogen receptors", "functional spliceosome-associated protein 59"	604739	"RNA-binding region (RNP1, RRM) containing 2"	RNPC2		8227358, 15694343, 21551269	Standard	NM_184234		Approved	CC1.3, HCC1, CAPER, fSAP59, CAPERalpha	uc002xeb.3	Q14498	OTTHUMG00000032358	ENST00000253363.6:c.451G>C	chr20.hg19:g.34313043C>G	ENSP00000253363:p.Asp151His		A2RRD3|A5D8W2|B0BLV3|E1P5S0|E1P5S1|Q14499	Missense_Mutation	SNP	ENST00000253363.6	hg19	CCDS13266.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.6|28.6	4.937994|4.937994	0.92526|0.92526	.|.	.|.	ENSG00000131051|ENSG00000131051	ENST00000253363;ENST00000361162;ENST00000528062;ENST00000374038;ENST00000427743;ENST00000434927|ENST00000448303	T;T;T;T;T;T|T	0.52057|0.06142	0.68;0.68;0.68;0.9;0.9;0.68|3.34	5.0|5.0	5.0|5.0	0.66597|0.66597	Nucleotide-binding, alpha-beta plait (1);|.	0.046134|.	0.85682|.	D|.	0.000000|.	T|T	0.30324|0.30324	0.0761|0.0761	M|M	0.86651|0.86651	2.83|2.83	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.97110|.	1.0;1.0;0.999;0.999;0.997|.	T|T	0.13415|0.13415	-1.0510|-1.0510	10|7	0.51188|0.87932	T|D	0.08|0	.|.	18.4905|18.4905	0.90844|0.90844	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	129;129;151;151;127|.	B4DRA0;A2RRD3;Q14498-2;Q14498;B3KWX7|.	.;.;.;RBM39_HUMAN;.|.	H|T	151;151;129;150;129;151|23	ENSP00000253363:D151H;ENSP00000354437:D151H;ENSP00000436747:D129H;ENSP00000363150:D150H;ENSP00000406801:D129H;ENSP00000393493:D151H|ENSP00000394824:R23T	ENSP00000253363:D151H|ENSP00000394824:R23T	D|R	-|-	1|2	0|0	RBM39|RBM39	33776457|33776457	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.567000|7.567000	0.82357|0.82357	2.599000|2.599000	0.87857|0.87857	0.655000|0.655000	0.94253|0.94253	GAT|AGA		0.318	RBM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078931.2	NM_184237		G	34313043	C	G	34313043	3	3	793	1	0	0	0	0	1	0	0	0	13139	913	32	4	1185	4	RBM39	20	34313043	Missense_Mutation	SNP	C	TCGA-SX-A7SQ-01A-12D-A35Z-10	28738987	34313043	28712477	83	47248											
SFRS6	6431	hgsc.bcm.edu	37	20	42089554	42089554	+	Missense_Mutation	SNP	A	A	G			TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr20:42089554A>G	ENST00000244020.3	+	6	992	c.886A>G	c.(886-888)Agg>Ggg	p.R296G		NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN	serine/arginine-rich splicing factor 6	296	Arg/Ser-rich (RS domain).				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						ATCCAGATCAAGGAGCCAGTC	0.488																																																0													77	77	77					20																	42089554		2203	4300	6503	SO:0001583	missense	6431			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.886A>G	chr20.hg19:g.42089554A>G	ENSP00000244020:p.Arg296Gly		B7Z6J3|E1P5W6|Q13244|Q13245|Q96J06|Q9UJB8|Q9Y3N7	Missense_Mutation	SNP	ENST00000244020.3	hg19	CCDS13318.1	.	.	.	.	.	.	.	.	.	.	A	13.55	2.270378	0.40194	.	.	ENSG00000124193	ENST00000244020	T	0.16196	2.36	5.93	4.82	0.62117	.	0.195808	0.53938	D	0.000057	T	0.29093	0.0723	L	0.45051	1.395	0.32963	D	0.521249	D	0.54601	0.967	P	0.60789	0.879	T	0.39461	-0.9613	10	0.66056	D	0.02	.	10.9196	0.47156	0.8363:0.1637:0.0:0.0	.	296	Q13247	SRSF6_HUMAN	G	296	ENSP00000244020:R296G	ENSP00000244020:R296G	R	+	1	2	SRSF6	41522968	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.355000	0.52262	1.043000	0.40175	0.477000	0.44152	AGG		0.488	SRSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079292.1	NM_006275		G	42089554	A	G	42089554	3	3	793	1	0	0	0	0	1	0	0	0	14187	63	3	3	908	3	SFRS6	20	42089554	Missense_Mutation	SNP	A	TCGA-SX-A7SQ-01A-12D-A35Z-10	7776511	42089554	20935966	84	47249	507	2									
SFRS6	6431	hgsc.bcm.edu	37	20	42089559	42089559	+	Silent	SNP	C	C	T			TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr20:42089559C>T	ENST00000244020.3	+	6	997	c.891C>T	c.(889-891)agC>agT	p.S297S		NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN	serine/arginine-rich splicing factor 6	297	Arg/Ser-rich (RS domain).				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						GATCAAGGAGCCAGTCCCGTT	0.488																																																0													80	79	80					20																	42089559		2203	4300	6503	SO:0001819	synonymous_variant	6431			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.891C>T	chr20.hg19:g.42089559C>T			B7Z6J3|E1P5W6|Q13244|Q13245|Q96J06|Q9UJB8|Q9Y3N7	Silent	SNP	ENST00000244020.3	hg19	CCDS13318.1																																																																																				0.488	SRSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079292.1	NM_006275		T	42089559	C	T	42089559	2	4	793	1	0	0	0	0	0	0	0	1	14187	738	26	2		2	SFRS6	20	42089559	Silent	SNP	C	TCGA-SX-A7SQ-01A-12D-A35Z-10	5	42089559	20935961	85	47250	507	2									
CBS	875	hgsc.bcm.edu	37	21	44479371	44479371	+	Frame_Shift_Del	DEL	A	A	-			TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr21:44479371delA	ENST00000398165.3	-	13	1447	c.1188delT	c.(1186-1188)tttfs	p.F396fs	CBS_ENST00000398158.1_Frame_Shift_Del_p.F396fs|CBS_ENST00000359624.3_Frame_Shift_Del_p.F396fs|CBS_ENST00000352178.5_Frame_Shift_Del_p.F396fs|CBS_ENST00000398168.1_Frame_Shift_Del_p.F396fs|CBS_ENST00000544202.1_Frame_Shift_Del_p.F308fs	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN	cystathionine-beta-synthase	396					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)	CCTCCTTCAGAAAGCCCTTCT	0.682																																																0													74	73	73					21																	44479371		2203	4300	6503	SO:0001589	frameshift_variant	875			L14577	CCDS13693.1	21q22.3	2014-09-17			ENSG00000160200	ENSG00000160200	4.2.1.22		1550	protein-coding gene	gene with protein product		613381				9790750	Standard	NM_000071		Approved	HIP4	uc002zcv.2	P35520	OTTHUMG00000086834	ENST00000398165.3:c.1188delT	chr21.hg19:g.44479371delA	ENSP00000381231:p.Phe396fs		B2R993|D3DSK4|Q99425|Q9BWC5	Frame_Shift_Del	DEL	ENST00000398165.3	hg19	CCDS13693.1																																																																																				0.682	CBS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195525.1	NM_000071		-	44479371	A	-	44479371	7	5	793	1	0	1	0	1	0	0	0	0	2713	243	9	0	487	0	CBS	21	44479371	Frame_Shift_Del	DEL	A	TCGA-SX-A7SQ-01A-12D-A35Z-10		44479371	3650524	86	47251											
HIRA	7290	hgsc.bcm.edu	37	22	19344494	19344495	+	Frame_Shift_Ins	INS	-	-	C			TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr22:19344494_19344495insC	ENST00000263208.5	-	19	2570_2571	c.2314_2315insG	c.(2314-2316)ctcfs	p.L772fs	HIRA_ENST00000546308.1_Frame_Shift_Ins_p.L728fs|HIRA_ENST00000541063.1_Frame_Shift_Ins_p.L728fs|HIRA_ENST00000340170.4_Intron	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	772	Interaction with PAX3. {ECO:0000250}.|Interaction with histone H2B.|Interaction with histone H4.				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)					GGATGGCAGGAGGATGGGAGAG	0.594																																																0																																										SO:0001589	frameshift_variant	7290			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.2314_2315insG	chr22.hg19:g.19344494_19344495insC	ENSP00000263208:p.Leu772fs		Q05BU9|Q8IXN2	Frame_Shift_Ins	INS	ENST00000263208.5	hg19	CCDS13759.1																																																																																				0.594	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316488.2	NM_003325		C	19344495	-	C	19344494	7	5	793	1	0	1	1	0	0	0	0	0	7122	304	11	0	766	0	HIRA	22	19344494	Frame_Shift_Ins	INS	-	TCGA-SX-A7SQ-01A-12D-A35Z-10		19344494	31960072	87	47252	508	2									
HIRA	7290	hgsc.bcm.edu	37	22	19344495	19344496	+	Frame_Shift_Ins	INS	-	-	AT	rs374953578		TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr22:19344495_19344496insAT	ENST00000263208.5	-	19	2569_2570	c.2313_2314insAT	c.(2311-2316)atcctcfs	p.L772fs	HIRA_ENST00000546308.1_Frame_Shift_Ins_p.L728fs|HIRA_ENST00000541063.1_Frame_Shift_Ins_p.L728fs|HIRA_ENST00000340170.4_Intron	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	772	Interaction with PAX3. {ECO:0000250}.|Interaction with histone H2B.|Interaction with histone H4.				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)					GATGGCAGGAGGATGGGAGAGA	0.589																																																0																																										SO:0001589	frameshift_variant	7290			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.2313_2314insAT	chr22.hg19:g.19344495_19344496insAT	ENSP00000263208:p.Leu772fs		Q05BU9|Q8IXN2	Frame_Shift_Ins	INS	ENST00000263208.5	hg19	CCDS13759.1																																																																																				0.589	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316488.2	NM_003325		AT	19344496	-	AT	19344495	7	5	793	1	0	1	1	0	0	0	0	0	7122	1000	35	0	767	0	HIRA	22	19344495	Frame_Shift_Ins	INS	-	TCGA-SX-A7SQ-01A-12D-A35Z-10	1	19344495	31960071	88	47253	508	2									
MYO18B	84700	hgsc.bcm.edu	37	22	26286842	26286842	+	Splice_Site	SNP	G	G	A			TCGA-SX-A7SQ-01A-12D-A35Z-10	TCGA-SX-A7SQ-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2aa8e8d1-bc6d-4efa-82ef-120034ca6bcc	8ccf0feb-ec04-4877-b269-2a824a396344	g.chr22:26286842G>A	ENST00000407587.2	+	26	4606	c.4437G>A	c.(4435-4437)aaG>aaA	p.K1479K	CTA-125H2.2_ENST00000597548.1_RNA|CTA-125H2.2_ENST00000597614.2_RNA|CTA-125H2.2_ENST00000609820.1_RNA|CTA-125H2.2_ENST00000608921.1_RNA|CTA-125H2.2_ENST00000609275.1_RNA|CTA-125H2.2_ENST00000594542.1_RNA|CTA-125H2.2_ENST00000607895.1_RNA|CTA-125H2.2_ENST00000609889.1_RNA|CTA-125H2.2_ENST00000453457.3_RNA|CTA-125H2.2_ENST00000596813.1_RNA|CTA-125H2.2_ENST00000609823.1_RNA|MYO18B_ENST00000335473.7_Splice_Site_p.K1478K|CTA-125H2.2_ENST00000600211.1_RNA|MYO18B_ENST00000536101.1_Splice_Site_p.K1478K|CTA-125H2.2_ENST00000609809.1_RNA|CTA-125H2.2_ENST00000609157.1_RNA|CTA-125H2.2_ENST00000609570.1_RNA|CTA-125H2.2_ENST00000597284.1_RNA|CTA-125H2.2_ENST00000599080.1_RNA|CTA-125H2.2_ENST00000593715.1_RNA|CTA-125H2.2_ENST00000608115.1_RNA|CTA-125H2.2_ENST00000595102.1_RNA|CTA-125H2.2_ENST00000608257.1_RNA|CTA-125H2.2_ENST00000594585.1_RNA|CTA-125H2.2_ENST00000608507.1_RNA			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1478	Tail.					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						AGGAGCTCAAGGTGAGTGGTC	0.597																																																0													39	47	44					22																	26286842		2046	4193	6239	SO:0001630	splice_region_variant	84700			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.4437+1G>A	chr22.hg19:g.26286842G>A			B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Silent	SNP	ENST00000407587.2	hg19																																																																																					0.597	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608	Silent	A	26286842	G	A	26286842	5	1	793	1	0	0	0	0	0	0	1	0	10068	1014	35	2	4532	2	MYO18B	22	26286842	Splice_Site	SNP	G	TCGA-SX-A7SQ-01A-12D-A35Z-10	6942347	26286842	25017724	89	47254											
MMEL1	79258	hgsc.bcm.edu	37	1	2560862	2560862	+	Missense_Mutation	SNP	C	C	A			TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr1:2560862C>A	ENST00000378412.3	-	2	223	c.62G>T	c.(61-63)cGc>cTc	p.R21L	MMEL1_ENST00000502556.1_Missense_Mutation_p.R21L|MMEL1_ENST00000511099.1_5'Flank|MMEL1_ENST00000288709.6_Missense_Mutation_p.R12L			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	21						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)		GAACCCCGGGCGCTTCTGCCC	0.701																																																0													11	12	12					1																	2560862		1892	3662	5554	SO:0001583	missense	79258			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.62G>T	chr1.hg19:g.2560862C>A	ENSP00000367668:p.Arg21Leu		B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Missense_Mutation	SNP	ENST00000378412.3	hg19	CCDS30569.2	.	.	.	.	.	.	.	.	.	.	c	6.219	0.408527	0.11812	.	.	ENSG00000142606	ENST00000378411;ENST00000288709;ENST00000378412;ENST00000502556	D;D;D	0.85629	-1.58;-1.56;-2.01	3.25	-2.69	0.06022	.	1.614800	0.02734	N	0.115427	T	0.79522	0.4460	L	0.52011	1.625	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.61287	-0.7093	10	0.56958	D	0.05	-4.1883	4.0829	0.09934	0.0:0.363:0.3467:0.2902	.	21	Q495T6	MMEL1_HUMAN	L	21;12;21;21	ENSP00000288709:R12L;ENSP00000367668:R21L;ENSP00000422492:R21L	ENSP00000288709:R12L	R	-	2	0	MMEL1	2550722	0.024000	0.19004	0.001000	0.08648	0.220000	0.24768	-0.695000	0.05109	-0.301000	0.08882	0.455000	0.32223	CGC		0.701	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002395.2	NM_033467		A	2560862	C	A	2560862	3	1	794	1	0	0	0	0	1	0	0	0	9648	768	27	4	2369	4	MMEL1	1	2560862	Missense_Mutation	SNP	C	TCGA-SX-A7SR-01A-12D-A35Z-10		2560862	246689759	1	47255											
CLSTN1	22883	hgsc.bcm.edu	37	1	9815300	9815300	+	Silent	SNP	G	G	T			TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr1:9815300G>T	ENST00000377298.4	-	4	1104	c.312C>A	c.(310-312)tcC>tcA	p.S104S	CLSTN1_ENST00000377288.3_Silent_p.S104S|CLSTN1_ENST00000361311.4_Silent_p.S94S	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	104	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)|calcium ion binding (GO:0005509)|kinesin binding (GO:0019894)|X11-like protein binding (GO:0042988)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		CCTCACCAGTGGATTTATCCA	0.468																																																0													208	195	199					1																	9815300		2203	4300	6503	SO:0001819	synonymous_variant	22883			AB020718	CCDS105.1, CCDS30580.1	1p36.22	2011-07-01			ENSG00000171603	ENSG00000171603		"Cadherins / Cadherin-related"	17447	protein-coding gene	gene with protein product	"cadherin-related family member 12"	611321				10048485	Standard	XM_005263432		Approved	CSTN1, KIAA0911, CDHR12	uc001aqh.3	O94985	OTTHUMG00000001451	ENST00000377298.4:c.312C>A	chr1.hg19:g.9815300G>T			A8K183|Q5SR52|Q5UE58|Q71MN0|Q8N4K9	Silent	SNP	ENST00000377298.4	hg19	CCDS30580.1																																																																																				0.468	CLSTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004239.1			T	9815300	G	T	9815300	2	4	794	1	0	0	0	0	0	0	0	1	3563	1335	47	4		4	CLSTN1	1	9815300	Silent	SNP	G	TCGA-SX-A7SR-01A-12D-A35Z-10	7254438	9815300	239435321	2	47256											
PRDM2	7799	hgsc.bcm.edu	37	1	14075886	14075886	+	Missense_Mutation	SNP	T	T	A			TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr1:14075886T>A	ENST00000235372.7	+	6	1271	c.415T>A	c.(415-417)Tgg>Agg	p.W139R	PRDM2_ENST00000503842.1_5'Flank|PRDM2_ENST00000343137.4_5'Flank|PRDM2_ENST00000413440.1_5'Flank|PRDM2_ENST00000311066.5_Missense_Mutation_p.W139R|PRDM2_ENST00000505823.1_5'Flank|PRDM2_ENST00000502727.1_3'UTR|PRDM2_ENST00000376048.5_Missense_Mutation_p.W139R	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	139	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)|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)		GCTCCTGGTCTGGTACAATGG	0.667																																																0													16	18	17					1																	14075886		2195	4290	6485	SO:0001583	missense	7799			U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"Chromatin-modifying enzymes / K-methyltransferases"	9347	protein-coding gene	gene with protein product	"retinoblastoma protein-binding zinc finger protein", "retinoblastoma protein-interacting zinc finger protein", "MTE-binding protein", "zinc-finger DNA-binding protein", "GATA-3 binding protein G3B"	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.415T>A	chr1.hg19:g.14075886T>A	ENSP00000235372:p.Trp139Arg		B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	hg19	CCDS150.1	.	.	.	.	.	.	.	.	.	.	t	28.6	4.933126	0.92458	.	.	ENSG00000116731	ENST00000484063;ENST00000376048;ENST00000235372;ENST00000311066;ENST00000400800	D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43	3.69	3.69	0.42338	SET domain (3);	0.000000	0.85682	D	0.000000	D	0.94178	0.8132	M	0.88512	2.96	0.52501	D	0.999955	D;D;D	0.64830	0.983;0.979;0.994	D;P;D	0.71184	0.91;0.854;0.972	D	0.94188	0.7438	10	0.56958	D	0.05	.	10.6381	0.45577	0.0:0.0:0.0:1.0	.	139;139;139	Q13029;Q13029-2;B1AJZ4	PRDM2_HUMAN;.;.	R	130;139;139;139;139	ENSP00000423010:W130R;ENSP00000365216:W139R;ENSP00000235372:W139R;ENSP00000312352:W139R	ENSP00000235372:W139R	W	+	1	0	PRDM2	13948473	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.486000	0.60286	1.661000	0.50771	0.524000	0.50904	TGG		0.667	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		A	14075886	T	A	14075886	3	1	794	1	0	0	0	0	1	0	0	0	12463	1580	55	5	433	5	PRDM2	1	14075886	Missense_Mutation	SNP	T	TCGA-SX-A7SR-01A-12D-A35Z-10	4260586	14075886	235174735	3	47257											
MACF1	23499	hgsc.bcm.edu	37	1	39760763	39760763	+	Missense_Mutation	SNP	C	C	G			TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr1:39760763C>G	ENST00000372915.3	+	18	2302	c.2215C>G	c.(2215-2217)Cta>Gta	p.L739V	MACF1_ENST00000539005.1_Missense_Mutation_p.L739V|MACF1_ENST00000361689.2_Missense_Mutation_p.L739V|MACF1_ENST00000545844.1_Missense_Mutation_p.L739V|MACF1_ENST00000567887.1_Missense_Mutation_p.L771V|MACF1_ENST00000564288.1_Missense_Mutation_p.L734V|MACF1_ENST00000317713.7_Missense_Mutation_p.L739V			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	739					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)			GTTTCGTTCTCTACAAGATAC	0.458																																																0													99	96	97					1																	39760763		2203	4300	6503	SO:0001583	missense	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.2215C>G	chr1.hg19:g.39760763C>G	ENSP00000362006:p.Leu739Val		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	hg19		.	.	.	.	.	.	.	.	.	.	C	12.77	2.038986	0.35989	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000524432;ENST00000530262;ENST00000372900	D;D;D;D;D;D;D	0.96136	-3.92;-3.92;-3.92;-3.92;-3.92;-3.92;-3.92	5.72	5.72	0.89469	.	.	.	.	.	D	0.94424	0.8206	N	0.13098	0.295	0.80722	D	1	D;B	0.69078	0.997;0.122	D;B	0.81914	0.995;0.113	D	0.89130	0.3509	9	0.02654	T	1	.	20.2441	0.98394	0.0:1.0:0.0:0.0	.	739;704	F8W8Q1;Q9UPN3-3	.;.	V	739;739;739;739;739;697;888;899	ENSP00000439537:L739V;ENSP00000362006:L739V;ENSP00000354573:L739V;ENSP00000313438:L739V;ENSP00000444364:L739V;ENSP00000435070:L697V;ENSP00000437059:L888V	ENSP00000313438:L739V	L	+	1	2	MACF1	39533350	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.906000	0.48735	2.865000	0.98341	0.655000	0.94253	CTA		0.458	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		G	39760763	C	G	39760763	3	3	794	1	0	0	0	0	1	0	0	0	9146	912	32	4	2285	4	MACF1	1	39760763	Missense_Mutation	SNP	C	TCGA-SX-A7SR-01A-12D-A35Z-10	25684877	39760763	209489858	4	47258											
ST6GALNAC5	81849	hgsc.bcm.edu	37	1	77528710	77528710	+	Missense_Mutation	SNP	C	C	T			TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr1:77528710C>T	ENST00000477717.1	+	5	1065	c.830C>T	c.(829-831)cCt>cTt	p.P277L		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	277					glycosphingolipid biosynthetic process (GO:0006688)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						CCTTTTGGACCTGATGAATGT	0.418																																																0													129	126	127					1																	77528710		2203	4300	6503	SO:0001583	missense	81849				CCDS673.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000117069	ENSG00000117069		"Sialyltransferases"	19342	protein-coding gene	gene with protein product		610134	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E"	SIAT7E		10521438, 10601645	Standard	NM_030965		Approved	MGC3184, ST6GalNAcV	uc001dhi.3	Q9BVH7	OTTHUMG00000009687	ENST00000477717.1:c.830C>T	chr1.hg19:g.77528710C>T	ENSP00000417583:p.Pro277Leu		B1AK82	Missense_Mutation	SNP	ENST00000477717.1	hg19	CCDS673.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.862062	0.51482	.	.	ENSG00000117069	ENST00000477717;ENST00000438953	T	0.29917	1.55	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.38957	0.1060	L	0.54323	1.7	0.80722	D	1	D	0.69078	0.997	D	0.72075	0.976	T	0.04767	-1.0928	10	0.08837	T	0.75	-18.842	20.3422	0.98769	0.0:1.0:0.0:0.0	.	277	Q9BVH7	SIA7E_HUMAN	L	277;187	ENSP00000417583:P277L	ENSP00000406658:P187L	P	+	2	0	ST6GALNAC5	77301298	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.440000	0.80464	2.810000	0.96702	0.655000	0.94253	CCT		0.418	ST6GALNAC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026692.2	NM_030965		T	77528710	C	T	77528710	3	4	794	1	0	0	0	0	1	0	0	0	15232	681	24	2	848	2	ST6GALNAC5	1	77528710	Missense_Mutation	SNP	C	TCGA-SX-A7SR-01A-12D-A35Z-10	37767947	77528710	171721911	5	47259											
C1orf51	148523	hgsc.bcm.edu	37	1	150259058	150259058	+	Missense_Mutation	SNP	T	T	G			TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr1:150259058T>G	ENST00000290363.5	+	5	1299	c.850T>G	c.(850-852)Tta>Gta	p.L284V	C1orf51_ENST00000369095.1_Missense_Mutation_p.L284V|C1orf51_ENST00000369094.1_Missense_Mutation_p.L196V	NM_144697.2	NP_653298.1	Q8N365	CIART_HUMAN		284					circadian regulation of gene expression (GO:0032922)|locomotor rhythm (GO:0045475)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|E-box binding (GO:0070888)			endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	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)			CCATGGTCCTTTAGGCACTGG	0.557																																																0													220	184	196					1																	150259058		2203	4300	6503	SO:0001583	missense	148523																														ENST00000290363.5:c.850T>G	chr1.hg19:g.150259058T>G	ENSP00000290363:p.Leu284Val		B2RD43|D3DV01|Q8N795|Q96MG6	Missense_Mutation	SNP	ENST00000290363.5	hg19	CCDS949.1	.	.	.	.	.	.	.	.	.	.	T	15.20	2.762504	0.49574	.	.	ENSG00000159208	ENST00000447007;ENST00000369095;ENST00000369094;ENST00000417398;ENST00000290363	.	.	.	5.65	0.569	0.17340	.	0.809409	0.10750	N	0.638487	T	0.14614	0.0353	L	0.54323	1.7	0.23168	N	0.998187	B	0.27351	0.176	B	0.27608	0.081	T	0.29640	-1.0005	9	0.42905	T	0.14	-1.9282	2.739	0.05248	0.1411:0.0757:0.2763:0.5069	.	284	Q8N365	CA051_HUMAN	V	196;284;196;196;284	.	ENSP00000290363:L284V	L	+	1	2	C1orf51	148525682	0.594000	0.26849	0.909000	0.35828	0.945000	0.59286	-0.213000	0.09305	-0.059000	0.13154	0.533000	0.62120	TTA		0.557	C1orf51-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035058.1			G	150259058	T	G	150259058	3	3	794	1	0	0	0	0	1	0	0	0	2045	1838	64	5	868	5	C1orf51	1	150259058	Missense_Mutation	SNP	T	TCGA-SX-A7SR-01A-12D-A35Z-10	72730348	150259058	98991563	6	47260											
GOLPH3L	55204	hgsc.bcm.edu	37	1	150621097	150621097	+	Silent	SNP	A	A	G			TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr1:150621097A>G	ENST00000271732.3	-	5	602	c.558T>C	c.(556-558)acT>acC	p.T186T	GOLPH3L_ENST00000540514.1_Silent_p.T142T	NM_018178.5	NP_060648.2	Q9H4A5	GLP3L_HUMAN	golgi phosphoprotein 3-like	186	Beta-hairpin required for oligomerization. {ECO:0000250}.				Golgi organization (GO:0007030)|positive regulation of protein secretion (GO:0050714)	Golgi membrane (GO:0000139)|trans-Golgi network membrane (GO:0032588)	phosphatidylinositol-4-phosphate binding (GO:0070273)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|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;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			CTGGATGAGTAGTCATGTCAA	0.433																																																0													90	83	85					1																	150621097		2203	4300	6503	SO:0001819	synonymous_variant	55204			AJ296153	CCDS966.1	1q21	2008-02-05			ENSG00000143457	ENSG00000143457			24882	protein-coding gene	gene with protein product		612208					Standard	NM_018178		Approved	GPP34R	uc001evj.2	Q9H4A5	OTTHUMG00000035009	ENST00000271732.3:c.558T>C	chr1.hg19:g.150621097A>G			B1AN09|B7Z6N3|Q9NVK0	Silent	SNP	ENST00000271732.3	hg19	CCDS966.1																																																																																				0.433	GOLPH3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084734.1	NM_018178		G	150621097	A	G	150621097	2	3	794	1	0	0	0	0	0	0	0	1	6571	407	15	3		3	GOLPH3L	1	150621097	Silent	SNP	A	TCGA-SX-A7SR-01A-12D-A35Z-10	362039	150621097	98629524	7	47261											
ARHGEF11	9826	hgsc.bcm.edu	37	1	156906702	156906702	+	Silent	SNP	A	A	C			TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr1:156906702A>C	ENST00000361409.2	-	39	5158	c.4416T>G	c.(4414-4416)gcT>gcG	p.A1472A	ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000368194.3_Silent_p.A1512A|ARHGEF11_ENST00000315174.8_Silent_p.A888A|MIR765_ENST00000390226.1_RNA	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1472					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTGTCCATCTAGCTGCTTCTG	0.597																																																0													125	125	125					1																	156906702		2203	4300	6503	SO:0001819	synonymous_variant	9826			AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"Rho guanine nucleotide exchange factors"	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.4416T>G	chr1.hg19:g.156906702A>C			D3DVD0|Q5VY40|Q6PFW2	Silent	SNP	ENST00000361409.2	hg19	CCDS1162.1																																																																																				0.597	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236		C	156906702	A	C	156906702	2	2	794	1	0	0	0	0	0	0	0	1	896	407	15	5		5	ARHGEF11	1	156906702	Silent	SNP	A	TCGA-SX-A7SR-01A-12D-A35Z-10	6285605	156906702	92343919	8	47262											
ATP1A4	480	hgsc.bcm.edu	37	1	160144537	160144537	+	Splice_Site	SNP	G	G	C			TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr1:160144537G>C	ENST00000368081.4	+	15	2782	c.2311G>C	c.(2311-2313)Ggc>Cgc	p.G771R	ATP1A4_ENST00000418334.1_3'UTR|ATP1A4_ENST00000470705.1_5'Flank	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	771					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGTGGAGGAGGGTGAGGAGGC	0.577																																																0													78	62	67					1																	160144537		2203	4300	6503	SO:0001630	splice_region_variant	480			BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"ATPases / P-type"	14073	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-4", "sodium pump subunit alpha-4", "sodium-potassium ATPase catalytic subunit alpha-4"	607321	"ATPase, Na+/K+ transporting, alpha polypeptide-like 2"	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.2311+1G>C	chr1.hg19:g.160144537G>C			Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Missense_Mutation	SNP	ENST00000368081.4	hg19	CCDS1197.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.407652	0.83340	.	.	ENSG00000132681	ENST00000368081	D	0.98044	-4.68	4.27	4.27	0.50696	HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.99447	0.9804	H	0.99937	4.99	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97675	1.0169	10	0.87932	D	0	.	14.5908	0.68362	0.0:0.0:1.0:0.0	.	771	Q13733	AT1A4_HUMAN	R	771	ENSP00000357060:G771R	ENSP00000357060:G771R	G	+	1	0	ATP1A4	158411161	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	9.381000	0.97205	2.371000	0.80710	0.655000	0.94253	GGC		0.577	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699	Missense_Mutation	C	160144537	G	C	160144537	5	2	794	1	0	0	0	0	0	0	1	0	1131	1246	43	4	2369	4	ATP1A4	1	160144537	Splice_Site	SNP	G	TCGA-SX-A7SR-01A-12D-A35Z-10	3237835	160144537	89106084	9	47263											
CNST	163882	hgsc.bcm.edu	37	1	246829056	246829056	+	Frame_Shift_Del	DEL	T	T	-			TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr1:246829056delT	ENST00000366513.4	+	11	2296	c.2027delT	c.(2026-2028)gttfs	p.V676fs		NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	676					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						ATAGCAACGGTTTTCCTCAGT	0.443																																																0													205	178	187					1																	246829056		2203	4300	6503	SO:0001589	frameshift_variant	163882			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.2027delT	chr1.hg19:g.246829056delT	ENSP00000355470:p.Val676fs		Q5VSY9|Q5VTM7|Q8IYA9|Q8N3L5|Q8NB09|Q8TEI2|Q96MR5	Frame_Shift_Del	DEL	ENST00000366513.4	hg19	CCDS1628.1																																																																																				0.443	CNST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096780.1	NM_152609		-	246829056	T	-	246829056	7	5	794	1	0	1	0	1	0	0	0	0	3636	1725	60	0	2080	0	CNST	1	246829056	Frame_Shift_Del	DEL	T	TCGA-SX-A7SR-01A-12D-A35Z-10	86684519	246829056	2421565	10	47264											
GREB1	9687	hgsc.bcm.edu	37	2	11706689	11706689	+	Missense_Mutation	SNP	G	G	C			TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr2:11706689G>C	ENST00000381486.2	+	4	661	c.361G>C	c.(361-363)Ggg>Cgg	p.G121R	GREB1_ENST00000381483.2_Missense_Mutation_p.G121R|GREB1_ENST00000263834.5_Missense_Mutation_p.G121R|GREB1_ENST00000234142.5_Missense_Mutation_p.G121R|GREB1_ENST00000389825.3_Missense_Mutation_p.G11R	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	121						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)		TCTCCTCGTGGGGGTCAAGTC	0.592																																					Ovarian(39;850 945 2785 23371 33093)											0													100	92	95					2																	11706689		2203	4300	6503	SO:0001583	missense	9687				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.361G>C	chr2.hg19:g.11706689G>C	ENSP00000370896:p.Gly121Arg		A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	hg19	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	G	35	5.440620	0.96168	.	.	ENSG00000196208	ENST00000381486;ENST00000263834;ENST00000389825;ENST00000381483;ENST00000234142	T;T;T;T;T	0.77750	2.5;1.47;-1.12;1.54;2.5	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.88492	0.6451	M	0.73962	2.25	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;1.0;0.999	D	0.89301	0.3626	10	0.87932	D	0	-44.3346	19.4103	0.94670	0.0:0.0:1.0:0.0	.	121;11;121;121	Q4ZG55-2;F8W6E5;Q4ZG55-3;Q4ZG55	.;.;.;GREB1_HUMAN	R	121;121;11;121;121	ENSP00000370896:G121R;ENSP00000263834:G121R;ENSP00000374475:G11R;ENSP00000370892:G121R;ENSP00000234142:G121R	ENSP00000234142:G121R	G	+	1	0	GREB1	11624140	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.671000	0.98627	2.583000	0.87209	0.655000	0.94253	GGG		0.592	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		C	11706689	G	C	11706689	3	2	794	1	0	0	0	0	1	0	0	0	6762	1232	43	4	371	4	GREB1	2	11706689	Missense_Mutation	SNP	G	TCGA-SX-A7SR-01A-12D-A35Z-10		11706689	231492684	11	47265											
SMC6	79677	hgsc.bcm.edu	37	2	17902443	17902443	+	Frame_Shift_Del	DEL	A	A	-			TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr2:17902443delA	ENST00000448223.2	-	10	1081	c.812delT	c.(811-813)ttafs	p.L271fs	SMC6_ENST00000381272.4_Frame_Shift_Del_p.L297fs|SMC6_ENST00000402989.1_Frame_Shift_Del_p.L271fs|SMC6_ENST00000351948.4_Frame_Shift_Del_p.L271fs	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	271					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CAAGGACTCTAAATTAGTCTT	0.343																																																0													133	135	134					2																	17902443		2202	4300	6502	SO:0001589	frameshift_variant	79677			AJ310551	CCDS1690.1	2p24.3	2008-02-05	2006-07-06	2006-07-06	ENSG00000163029	ENSG00000163029		"Structural maintenance of chromosomes proteins"	20466	protein-coding gene	gene with protein product		609387	"SMC6 structural maintenance of chromosomes 6-like 1 (yeast)"	SMC6L1		11230166	Standard	NM_024624		Approved	FLJ22116	uc002rcn.3	Q96SB8	OTTHUMG00000090675	ENST00000448223.2:c.812delT	chr2.hg19:g.17902443delA	ENSP00000404092:p.Leu271fs		A8K8Q6|D6W518|Q05BV4|Q9H0X3|Q9H6M0	Frame_Shift_Del	DEL	ENST00000448223.2	hg19	CCDS1690.1																																																																																				0.343	SMC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207359.1	NM_024624		-	17902443	A	-	17902443	7	5	794	1	0	1	0	1	0	0	0	0	14793	372	13	0	2539	0	SMC6	2	17902443	Frame_Shift_Del	DEL	A	TCGA-SX-A7SR-01A-12D-A35Z-10	6195754	17902443	225296930	12	47266											
CCDC121	79635	hgsc.bcm.edu	37	2	27850108	27850108	+	Missense_Mutation	SNP	A	A	G			TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr2:27850108A>G	ENST00000324364.3	-	2	739	c.559T>C	c.(559-561)Ttt>Ctt	p.F187L	CCDC121_ENST00000394775.3_Missense_Mutation_p.F349L|GPN1_ENST00000424214.1_5'Flank|GPN1_ENST00000264718.3_5'Flank|GPN1_ENST00000458167.2_5'Flank|GPN1_ENST00000503738.1_5'Flank|GPN1_ENST00000610189.1_5'Flank|GPN1_ENST00000407583.3_5'Flank|ZNF512_ENST00000556601.1_Intron|RP11-158I13.2_ENST00000505973.1_RNA|GPN1_ENST00000515877.1_5'Flank	NM_024584.4	NP_078860.2	Q6ZUS5	CC121_HUMAN	coiled-coil domain containing 121	187										breast(1)|endometrium(3)|large_intestine(2)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(172;0.155)					TCAAAAATAAACCGCTTTGCT	0.463																																																0													63	67	65					2																	27850108		2203	4300	6503	SO:0001583	missense	79635			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.559T>C	chr2.hg19:g.27850108A>G	ENSP00000339087:p.Phe187Leu		B3KW66|J3KQZ8|Q9H8G6	Missense_Mutation	SNP	ENST00000324364.3	hg19	CCDS1759.1	.	.	.	.	.	.	.	.	.	.	A	8.696	0.908553	0.17833	.	.	ENSG00000176714	ENST00000324364;ENST00000394775	T;T	0.27890	1.64;1.64	5.36	-6.38	0.01957	.	3.036110	0.00839	N	0.001729	T	0.11836	0.0288	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.18871	0.023	T	0.14811	-1.0459	10	0.11794	T	0.64	-29.1841	2.0948	0.03665	0.2432:0.3863:0.2444:0.1261	.	187	Q6ZUS5	CC121_HUMAN	L	187;349	ENSP00000339087:F187L;ENSP00000412150:F349L	ENSP00000339087:F187L	F	-	1	0	CCDC121	27703612	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.256000	0.08757	-1.009000	0.03400	0.482000	0.46254	TTT		0.463	CCDC121-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250215.1	NM_024584		G	27850108	A	G	27850108	3	3	794	1	0	0	0	0	1	0	0	0	2759	43	2	3	281	3	CCDC121	2	27850108	Missense_Mutation	SNP	A	TCGA-SX-A7SR-01A-12D-A35Z-10	9947665	27850108	215349265	13	47267											
XDH	7498	hgsc.bcm.edu	37	2	31600100	31600100	+	Frame_Shift_Del	DEL	C	C	-			TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr2:31600100delC	ENST00000379416.3	-	14	1294	c.1246delG	c.(1246-1248)gagfs	p.E416fs		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	416					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)	GAGAAATACTCCCCCTAAAAG	0.517																																					Colon(66;682 1445 30109 40147)											0													96	93	94					2																	31600100		2203	4300	6503	SO:0001589	frameshift_variant	7498			D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"xanthene dehydrogenase"			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.1246delG	chr2.hg19:g.31600100delC	ENSP00000368727:p.Glu416fs		Q16681|Q16712|Q4PJ16	Frame_Shift_Del	DEL	ENST00000379416.3	hg19	CCDS1775.1																																																																																				0.517	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		-	31600100	C	-	31600100	7	5	794	1	0	1	0	1	0	0	0	0	17431	864	30	0	2847	0	XDH	2	31600100	Frame_Shift_Del	DEL	C	TCGA-SX-A7SR-01A-12D-A35Z-10	3749992	31600100	211599273	14	47268											
SLC38A11	151258	hgsc.bcm.edu	37	2	165809229	165809229	+	Missense_Mutation	SNP	A	A	T			TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr2:165809229A>T	ENST00000409149.3	-	2	340	c.49T>A	c.(49-51)Tca>Aca	p.S17T	SLC38A11_ENST00000303735.4_Missense_Mutation_p.S17T|SLC38A11_ENST00000409058.1_Intron|SLC38A11_ENST00000409662.1_Missense_Mutation_p.S17T	NM_001199148.1	NP_001186077.1	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	17					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						GTAACATATGAAACCCAGAAT	0.358																																																0													57	61	60					2																	165809229		2203	4300	6503	SO:0001583	missense	151258				CCDS2224.1, CCDS56142.1	2q24.3	2013-05-22			ENSG00000169507	ENSG00000169507		"Solute carriers"	26836	protein-coding gene	gene with protein product							Standard	NM_173512		Approved	FLJ39822, AVT2	uc002ucw.2	Q08AI6	OTTHUMG00000132144	ENST00000409149.3:c.49T>A	chr2.hg19:g.165809229A>T	ENSP00000386272:p.Ser17Thr		B4DF99|Q8N887	Missense_Mutation	SNP	ENST00000409149.3	hg19	CCDS56142.1	.	.	.	.	.	.	.	.	.	.	A	15.35	2.806168	0.50421	.	.	ENSG00000169507	ENST00000303735;ENST00000409149;ENST00000409662	T;T;T	0.02525	4.26;4.26;4.26	5.56	4.36	0.52297	.	0.161948	0.53938	D	0.000055	T	0.02304	0.0071	N	0.04705	-0.18	0.30984	N	0.722188	B;B	0.26809	0.16;0.132	B;B	0.36766	0.232;0.149	T	0.35574	-0.9783	10	0.31617	T	0.26	.	11.3997	0.49862	0.6358:0.3642:0.0:0.0	.	17;17	Q08AI6;Q08AI6-2	S38AB_HUMAN;.	T	17	ENSP00000306178:S17T;ENSP00000386272:S17T;ENSP00000386774:S17T	ENSP00000306178:S17T	S	-	1	0	SLC38A11	165517475	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.776000	0.55356	2.116000	0.64780	0.528000	0.53228	TCA		0.358	SLC38A11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333390.1	NM_173512		T	165809229	A	T	165809229	3	4	794	1	0	0	0	0	1	0	0	0	14609	246	9	5	1141	5	SLC38A11	2	165809229	Missense_Mutation	SNP	A	TCGA-SX-A7SR-01A-12D-A35Z-10	134209129	165809229	77390144	15	47269											
MAGI1	9223	hgsc.bcm.edu	37	3	65350346	65350346	+	Silent	SNP	T	T	A			TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr3:65350346T>A	ENST00000497477.2	-	19	3143	c.3144A>T	c.(3142-3144)gcA>gcT	p.A1048A	MAGI1_ENST00000483466.1_Silent_p.A1144A|MAGI1_ENST00000402939.2_Silent_p.A1115A|MAGI1_ENST00000330909.8_Silent_p.A1143A			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1134	Interaction with FCHSD2.|PDZ 5. {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)		TCACCTGTGTTGCTTGGGGTG	0.383																																																0													166	169	168					3																	65350346		2203	4300	6503	SO:0001819	synonymous_variant	9223			AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"BAI1-associated protein 1"	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.3144A>T	chr3.hg19:g.65350346T>A			A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Silent	SNP	ENST00000497477.2	hg19		.	.	.	.	.	.	.	.	.	.	T	9.995	1.231942	0.22626	.	.	ENSG00000151276	ENST00000460329	.	.	.	6.17	-1.61	0.08399	.	.	.	.	.	T	0.51805	0.1696	.	.	.	0.58432	D	0.999993	.	.	.	.	.	.	T	0.45977	-0.9224	4	.	.	.	-4.4862	7.3714	0.26804	0.2789:0.0:0.328:0.3931	.	.	.	.	L	1024	.	.	Q	-	2	0	MAGI1	65325386	.	.	0.988000	0.46212	0.933000	0.57130	.	.	-0.057000	0.13199	0.533000	0.62120	CAA		0.383	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742		A	65350346	T	A	65350346	2	1	794	1	0	0	0	0	0	0	0	1	9192	1799	63	5		5	MAGI1	3	65350346	Silent	SNP	T	TCGA-SX-A7SR-01A-12D-A35Z-10		65350346	132672084	16	47270											
SLC41A3	54946	hgsc.bcm.edu	37	3	125725271	125725271	+	Frame_Shift_Del	DEL	C	C	-	rs111477552|rs377657493	byFrequency	TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr3:125725271delC	ENST00000315891.6	-	12	1741	c.1503delG	c.(1501-1503)ttgfs	p.L502fs	SLC41A3_ENST00000383598.2_3'UTR|SLC41A3_ENST00000360370.4_3'UTR|SLC41A3_ENST00000346785.5_Frame_Shift_Del_p.L466fs	NM_001008485.1|NM_017836.3	NP_001008485|NP_060306.3	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3	502						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		TTTTTGCTAACAAACAAAAAG	0.353																																																0													30	29	29					3																	125725271		2200	4271	6471	SO:0001589	frameshift_variant	54946				CCDS33842.1, CCDS33843.1, CCDS33844.1, CCDS43144.1, CCDS54635.1	3q21.2	2013-09-02			ENSG00000114544	ENSG00000114544		"Solute carriers"	31046	protein-coding gene	gene with protein product		610803					Standard	NM_001164475		Approved	FLJ20473	uc003eij.3	Q96GZ6	OTTHUMG00000162678	ENST00000315891.6:c.1503delG	chr3.hg19:g.125725271delC	ENSP00000326070:p.Leu502fs		A6ND60|B3KSD9|B7Z4Y2|C9JE96|E7ENY4|Q8N342|Q8NB27|Q9H9I6|Q9HAB1|Q9NX30	Frame_Shift_Del	DEL	ENST00000315891.6	hg19	CCDS33843.1																																																																																				0.353	SLC41A3-024	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370886.1	NM_017836		-	125725271	C	-	125725271	7	5	794	1	0	1	0	1	0	0	0	0	14637	477	17	0	24	0	SLC41A3	3	125725271	Frame_Shift_Del	DEL	C	TCGA-SX-A7SR-01A-12D-A35Z-10	60374925	125725271	72297159	17	47271											
TF	7018	hgsc.bcm.edu	37	3	133497449	133497449	+	Frame_Shift_Del	DEL	T	T	-			TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr3:133497449delT	ENST00000402696.3	+	17	2567	c.2082delT	c.(2080-2082)actfs	p.T694fs	TF_ENST00000264998.3_Frame_Shift_Del_p.T567fs	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	694					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)	AAGCCTGCACTTTCCGTAGAC	0.468																																																0													70	65	66					3																	133497449		2203	4300	6503	SO:0001589	frameshift_variant	7018				CCDS3080.1	3q21	2012-10-02			ENSG00000091513	ENSG00000091513			11740	protein-coding gene	gene with protein product		190000				6585826	Standard	NM_001063		Approved	PRO1557, PRO2086	uc003epv.2	P02787	OTTHUMG00000150356	ENST00000402696.3:c.2082delT	chr3.hg19:g.133497449delT	ENSP00000385834:p.Thr694fs		O43890|Q1HBA5|Q9NQB8|Q9UHV0	Frame_Shift_Del	DEL	ENST00000402696.3	hg19	CCDS3080.1																																																																																				0.468	TF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317775.1	NM_001063		-	133497449	T	-	133497449	7	5	794	1	0	1	0	1	0	0	0	0	15790	1596	56	0	2148	0	TF	3	133497449	Frame_Shift_Del	DEL	T	TCGA-SX-A7SR-01A-12D-A35Z-10	7772178	133497449	64524981	18	47272											
LAMP3	27074	hgsc.bcm.edu	37	3	182871611	182871611	+	Silent	SNP	T	T	A	rs201353315		TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr3:182871611T>A	ENST00000265598.3	-	2	873	c.618A>T	c.(616-618)gcA>gcT	p.A206A	LAMP3_ENST00000466939.1_Silent_p.A182A	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	206	Thr-rich.				cell proliferation (GO:0008283)|immune system process (GO:0002376)	alveolar lamellar body membrane (GO:0097233)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			TGGAGGCAGGTGCAGCTGTGC	0.552																																																0													112	110	111					3																	182871611		2203	4300	6503	SO:0001819	synonymous_variant	27074			AB013924	CCDS3242.1	3q26.3-q27	2011-11-24			ENSG00000078081	ENSG00000078081		"CD molecules"	14582	protein-coding gene	gene with protein product		605883				9721848	Standard	NM_014398		Approved	LAMP, TSC403, DC-LAMP, DCLAMP, CD208	uc003flh.4	Q9UQV4	OTTHUMG00000158387	ENST00000265598.3:c.618A>T	chr3.hg19:g.182871611T>A			D3DNS4|O94781|Q8NEC8	Silent	SNP	ENST00000265598.3	hg19	CCDS3242.1																																																																																				0.552	LAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350863.1			A	182871611	T	A	182871611	2	1	794	1	0	0	0	0	0	0	0	1	8621	1683	59	5		5	LAMP3	3	182871611	Silent	SNP	T	TCGA-SX-A7SR-01A-12D-A35Z-10	49374162	182871611	15150819	19	47273											
AFP	174	hgsc.bcm.edu	37	4	74316462	74316462	+	Missense_Mutation	SNP	G	G	A			TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr4:74316462G>A	ENST00000395792.2	+	11	1520	c.1420G>A	c.(1420-1422)Gag>Aag	p.E474K	AFP_ENST00000226359.2_Missense_Mutation_p.E474K	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	474	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)			GGCCTGTGGCGAGGGAGCGGT	0.522									Alpha-Fetoprotein, Hereditary Persistence of																																							0													160	138	145					4																	74316462		2203	4300	6503	SO:0001583	missense	174	Familial Cancer Database	HPAFP	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.1420G>A	chr4.hg19:g.74316462G>A	ENSP00000379138:p.Glu474Lys		B2RBU3	Missense_Mutation	SNP	ENST00000395792.2	hg19	CCDS3556.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.015123	0.75161	.	.	ENSG00000081051	ENST00000395792;ENST00000226359	T;T	0.58358	0.34;0.34	4.93	4.93	0.64822	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.060634	0.64402	D	0.000004	T	0.75034	0.3795	M	0.86864	2.845	0.30067	N	0.810355	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.75528	-0.3286	10	0.87932	D	0	.	13.8287	0.63366	0.0:0.0:1.0:0.0	.	316;474	B4DMX4;P02771	.;FETA_HUMAN	K	474	ENSP00000379138:E474K;ENSP00000226359:E474K	ENSP00000226359:E474K	E	+	1	0	AFP	74535326	1.000000	0.71417	0.205000	0.23548	0.890000	0.51754	5.131000	0.64751	2.715000	0.92844	0.561000	0.74099	GAG		0.522	AFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252284.3			A	74316462	G	A	74316462	3	1	794	1	0	0	0	0	1	0	0	0	363	1059	37	1	1462	1	AFP	4	74316462	Missense_Mutation	SNP	G	TCGA-SX-A7SR-01A-12D-A35Z-10		74316462	116837814	20	47274											
KIAA1109	84162	hgsc.bcm.edu	37	4	123175369	123175369	+	Missense_Mutation	SNP	A	A	C			TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr4:123175369A>C	ENST00000264501.4	+	38	6315	c.5942A>C	c.(5941-5943)gAt>gCt	p.D1981A	KIAA1109_ENST00000388738.3_Missense_Mutation_p.D1981A|KIAA1109_ENST00000455637.1_Missense_Mutation_p.D1981A			Q2LD37	K1109_HUMAN	KIAA1109	1981					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						GTCGAATCTGATGATTTGAAA	0.373																																																0													119	107	111					4																	123175369		1849	4086	5935	SO:0001583	missense	84162			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.5942A>C	chr4.hg19:g.123175369A>C	ENSP00000264501:p.Asp1981Ala		Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	hg19	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.8|22.8	4.334620|4.334620	0.81801|0.81801	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637|ENST00000446180	T;T;T|.	0.23754|.	2.49;2.49;1.89|.	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	0.000000|.	0.51477|.	U|.	0.000082|.	T|T	0.55529|0.55529	0.1926|0.1926	L|L	0.31664|0.31664	0.95|0.95	0.54753|0.54753	D|D	0.999989|0.999989	D;D|.	0.76494|.	0.999;0.998|.	D;D|.	0.83275|.	0.996;0.991|.	T|T	0.52660|0.52660	-0.8546|-0.8546	10|5	0.29301|.	T|.	0.29|.	.|.	15.3548|15.3548	0.74418|0.74418	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1980;1981|.	Q2LD37-2;Q2LD37|.	.;K1109_HUMAN|.	A|L	1981|554	ENSP00000264501:D1981A;ENSP00000373390:D1981A;ENSP00000389925:D1981A|.	ENSP00000264501:D1981A|.	D|M	+|+	2|1	0|0	KIAA1109|KIAA1109	123394819|123394819	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.262000|9.262000	0.95591|0.95591	2.034000|2.034000	0.60081|0.60081	0.482000|0.482000	0.46254|0.46254	GAT|ATG		0.373	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		C	123175369	A	C	123175369	3	2	794	1	0	0	0	0	1	0	0	0	8210	333	12	5	6084	5	KIAA1109	4	123175369	Missense_Mutation	SNP	A	TCGA-SX-A7SR-01A-12D-A35Z-10	48858907	123175369	67978907	21	47275											
HMGCS1	3157	hgsc.bcm.edu	37	5	43294814	43294814	+	Missense_Mutation	SNP	G	G	C			TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr5:43294814G>C	ENST00000325110.6	-	7	1261	c.1055C>G	c.(1054-1056)tCc>tGc	p.S352C	HMGCS1_ENST00000433297.2_Missense_Mutation_p.S352C	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)	352					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						AGATGCAAGGGAACCATATAC	0.353																																																0													159	159	159					5																	43294814		2203	4300	6503	SO:0001583	missense	3157				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.1055C>G	chr5.hg19:g.43294814G>C	ENSP00000322706:p.Ser352Cys		B2RDL8	Missense_Mutation	SNP	ENST00000325110.6	hg19	CCDS34154.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.312009	0.23821	.	.	ENSG00000112972	ENST00000325110;ENST00000433297;ENST00000545275	T;T	0.78707	-1.2;-1.2	5.65	3.79	0.43588	Hydroxymethylglutaryl-coenzyme A synthase C-terminal (1);Thiolase-like (1);	0.043346	0.85682	D	0.000000	T	0.56702	0.2003	N	0.02334	-0.595	0.43512	D	0.995771	B	0.13594	0.008	B	0.23852	0.049	T	0.51236	-0.8731	10	0.24483	T	0.36	-9.5747	16.8813	0.86064	0.0:0.4758:0.5242:0.0	.	352	Q01581	HMCS1_HUMAN	C	352;352;341	ENSP00000322706:S352C;ENSP00000399402:S352C	ENSP00000322706:S352C	S	-	2	0	HMGCS1	43330571	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.702000	0.54800	1.370000	0.46153	0.460000	0.39030	TCC		0.353	HMGCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368022.1			C	43294814	G	C	43294814	3	2	794	1	0	0	0	0	1	0	0	0	7234	1174	41	4	527	4	HMGCS1	5	43294814	Missense_Mutation	SNP	G	TCGA-SX-A7SR-01A-12D-A35Z-10		43294814	137620446	22	47276											
EDIL3	10085	hgsc.bcm.edu	37	5	83362406	83362406	+	Missense_Mutation	SNP	A	A	C			TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr5:83362406A>C	ENST00000296591.5	-	7	1089	c.671T>G	c.(670-672)aTg>aGg	p.M224R	EDIL3_ENST00000380138.3_Missense_Mutation_p.M214R|EDIL3_ENST00000510271.1_5'UTR	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	224	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		AGTAACTCTCATTTTCCTTTG	0.348																																																0													101	108	106					5																	83362406		2203	4300	6503	SO:0001583	missense	10085			U70312	CCDS4062.1, CCDS64195.1	5q14	2008-02-05			ENSG00000164176	ENSG00000164176			3173	protein-coding gene	gene with protein product		606018				9420328	Standard	NM_005711		Approved	DEL1	uc003kio.1	O43854	OTTHUMG00000119047	ENST00000296591.5:c.671T>G	chr5.hg19:g.83362406A>C	ENSP00000296591:p.Met224Arg		B2R763|O43855|Q5D094|Q8N610	Missense_Mutation	SNP	ENST00000296591.5	hg19	CCDS4062.1	.	.	.	.	.	.	.	.	.	.	A	17.86	3.491718	0.64074	.	.	ENSG00000164176	ENST00000296591;ENST00000380138	D;D	0.98060	-4.69;-4.69	5.93	5.93	0.95920	Coagulation factor 5/8 C-terminal type domain (4);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.97845	0.9292	L	0.45051	1.395	0.80722	D	1	D;D;D	0.65815	0.995;0.965;0.967	D;P;P	0.66351	0.943;0.884;0.897	D	0.99174	1.0865	10	0.87932	D	0	-29.0243	16.3756	0.83387	1.0:0.0:0.0:0.0	.	1;214;224	B7Z865;O43854-2;O43854	.;.;EDIL3_HUMAN	R	224;214	ENSP00000296591:M224R;ENSP00000369483:M214R	ENSP00000296591:M224R	M	-	2	0	EDIL3	83398162	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.962000	0.93254	2.270000	0.75569	0.460000	0.39030	ATG		0.348	EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239258.1	NM_005711		C	83362406	A	C	83362406	3	2	794	1	0	0	0	0	1	0	0	0	4917	217	8	5	791	5	EDIL3	5	83362406	Missense_Mutation	SNP	A	TCGA-SX-A7SR-01A-12D-A35Z-10	40067592	83362406	97552854	23	47277											
SLC35A4	113829	hgsc.bcm.edu	37	5	139947338	139947338	+	Missense_Mutation	SNP	A	A	T			TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr5:139947338A>T	ENST00000514199.1	+	2	2270	c.584A>T	c.(583-585)tAc>tTc	p.Y195F	SLC35A4_ENST00000323146.3_Missense_Mutation_p.Y195F|APBB3_ENST00000507279.1_Intron			Q96G79	S35A4_HUMAN	solute carrier family 35, member A4	195	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)			CTCATTCTGTACTGCCTCATC	0.587																																																0													103	98	100					5																	139947338		2203	4300	6503	SO:0001583	missense	113829			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.584A>T	chr5.hg19:g.139947338A>T	ENSP00000424566:p.Tyr195Phe		A8K013	Missense_Mutation	SNP	ENST00000514199.1	hg19	CCDS4231.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.279959	0.80692	.	.	ENSG00000176087	ENST00000323146;ENST00000514199	T;T	0.41400	1.0;1.0	4.68	4.68	0.58851	.	0.000000	0.64402	D	0.000001	T	0.52869	0.1761	L	0.39085	1.19	0.58432	D	0.999991	D	0.76494	0.999	D	0.85130	0.997	T	0.49551	-0.8928	9	.	.	.	-10.1141	13.9451	0.64080	1.0:0.0:0.0:0.0	.	195	Q96G79	S35A4_HUMAN	F	195	ENSP00000327133:Y195F;ENSP00000424566:Y195F	.	Y	+	2	0	SLC35A4	139927522	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	8.714000	0.91412	1.961000	0.56991	0.379000	0.24179	TAC		0.587	SLC35A4-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372815.1	NM_080670		T	139947338	A	T	139947338	3	4	794	1	0	0	0	0	1	0	0	0	14579	391	14	5	586	5	SLC35A4	5	139947338	Missense_Mutation	SNP	A	TCGA-SX-A7SR-01A-12D-A35Z-10	56584932	139947338	40967922	24	47278											
DCTN4	51164	hgsc.bcm.edu	37	5	150111032	150111032	+	Missense_Mutation	SNP	G	G	A			TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr5:150111032G>A	ENST00000447998.2	-	6	672	c.557C>T	c.(556-558)aCc>aTc	p.T186I	DCTN4_ENST00000521093.1_5'Flank|DCTN4_ENST00000424236.1_Missense_Mutation_p.T129I|DCTN4_ENST00000446090.2_Missense_Mutation_p.T193I	NM_016221.3	NP_057305.1	Q9UJW0	DCTN4_HUMAN	dynactin 4 (p62)	186					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	10		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGAAGCCTGGTTCCAAGACC	0.408																																																0													62	60	61					5																	150111032		2203	4300	6503	SO:0001583	missense	51164			AF195120	CCDS4310.1, CCDS47310.1, CCDS47311.1	5q31-q32	2008-05-23			ENSG00000132912	ENSG00000132912			15518	protein-coding gene	gene with protein product		614758				10843801, 16554302	Standard	NM_016221		Approved		uc010jhi.3	Q9UJW0	OTTHUMG00000130079	ENST00000447998.2:c.557C>T	chr5.hg19:g.150111032G>A	ENSP00000416968:p.Thr186Ile		B3KWW0|D3DQH0|E5RGT5|Q8TAN8	Missense_Mutation	SNP	ENST00000447998.2	hg19	CCDS4310.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.079487	0.55753	.	.	ENSG00000132912	ENST00000447998;ENST00000424236;ENST00000446090;ENST00000521728;ENST00000518015	T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92	5.53	4.64	0.57946	.	0.049705	0.85682	D	0.000000	T	0.24084	0.0583	L	0.44542	1.39	0.80722	D	1	B;P	0.35411	0.444;0.5	B;B	0.33042	0.097;0.157	T	0.02398	-1.1165	10	0.44086	T	0.13	-38.4966	15.5558	0.76192	0.0:0.0:0.8608:0.1391	.	193;186	Q9UJW0-3;Q9UJW0	.;DCTN4_HUMAN	I	186;129;193;43;129	ENSP00000416968:T186I;ENSP00000411251:T129I;ENSP00000414906:T193I;ENSP00000428987:T43I;ENSP00000430993:T129I	ENSP00000411251:T129I	T	-	2	0	DCTN4	150091225	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.062000	0.93920	1.287000	0.44583	0.563000	0.77884	ACC		0.408	DCTN4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252372.1			A	150111032	G	A	150111032	3	1	794	1	0	0	0	0	1	0	0	0	4311	1261	44	2	857	2	DCTN4	5	150111032	Missense_Mutation	SNP	G	TCGA-SX-A7SR-01A-12D-A35Z-10	10163694	150111032	30804228	25	47279											
CDHR2	54825	hgsc.bcm.edu	37	5	176019773	176019773	+	Missense_Mutation	SNP	G	G	A			TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr5:176019773G>A	ENST00000510636.1	+	31	4058	c.3784G>A	c.(3784-3786)Gaa>Aaa	p.E1262K	CDHR2_ENST00000261944.5_Missense_Mutation_p.E1262K|CDHR2_ENST00000506348.1_Missense_Mutation_p.E1262K	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	1262					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						GAACAGTCAGGAAATCAAGGC	0.542																																																0													150	125	133					5																	176019773		2203	4300	6503	SO:0001583	missense	54825			AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"Cadherins / Cadherin-related"	18231	protein-coding gene	gene with protein product	"protocadherin LKC"		"protocadherin 24"	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.3784G>A	chr5.hg19:g.176019773G>A	ENSP00000424565:p.Glu1262Lys		A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	ENST00000510636.1	hg19	CCDS34297.1	.	.	.	.	.	.	.	.	.	.	g	0.051	-1.250934	0.01469	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.55052	0.54;0.54;0.54	3.63	0.234	0.15390	.	.	.	.	.	T	0.29524	0.0736	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24941	-1.0146	9	0.06891	T	0.86	-0.0319	5.9006	0.18964	0.5753:0.0:0.4247:0.0	.	1262	Q9BYE9	CDHR2_HUMAN	K	1262	ENSP00000424565:E1262K;ENSP00000261944:E1262K;ENSP00000421078:E1262K	ENSP00000261944:E1262K	E	+	1	0	CDHR2	175952379	0.000000	0.05858	0.488000	0.27440	0.363000	0.29612	-0.278000	0.08490	0.191000	0.20236	0.459000	0.35465	GAA		0.542	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		A	176019773	G	A	176019773	3	1	794	1	0	0	0	0	1	0	0	0	3121	1175	41	2	3902	2	CDHR2	5	176019773	Missense_Mutation	SNP	G	TCGA-SX-A7SR-01A-12D-A35Z-10	25908741	176019773	4895487	26	47280											
PPARD	5467	hgsc.bcm.edu	37	6	35387920	35387920	+	Silent	SNP	C	C	A			TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr6:35387920C>A	ENST00000311565.4	+	5	496	c.147C>A	c.(145-147)tcC>tcA	p.S49S	PPARD_ENST00000444397.1_Silent_p.S49S|PPARD_ENST00000418635.2_Intron|PPARD_ENST00000360694.3_Silent_p.S49S|PPARD_ENST00000337400.2_Silent_p.S49S|PPARD_ENST00000448077.2_Silent_p.S10S|PPARD_ENST00000540939.1_Intron	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta	49					adipose tissue development (GO:0060612)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|axon ensheathment (GO:0008366)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular response to hypoxia (GO:0071456)|cholesterol metabolic process (GO:0008203)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|fatty acid beta-oxidation (GO:0006635)|fatty acid catabolic process (GO:0009062)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)|lipid metabolic process (GO:0006629)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of inflammatory response (GO:0050728)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid biosynthetic process (GO:0008654)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epidermis development (GO:0045684)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|proteoglycan metabolic process (GO:0006029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to vitamin A (GO:0033189)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin A metabolic process (GO:0006776)|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)|linoleic acid binding (GO:0070539)|lipid binding (GO:0008289)|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)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Bezafibrate(DB01393)|Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	CCCGGAGCTCCTCGCCACCCT	0.677																																																0													53	51	52					6																	35387920		2203	4300	6503	SO:0001819	synonymous_variant	5467			L07592	CCDS4803.1, CCDS4804.1, CCDS54994.1, CCDS54995.1	6p21.2	2013-01-16	2006-10-17		ENSG00000112033	ENSG00000112033		"Nuclear hormone receptors"	9235	protein-coding gene	gene with protein product		600409	"peroxisome proliferative activated receptor, delta"			1333051	Standard	NM_177435		Approved	NUC1, NUCII, FAAR, NR1C2	uc003okm.3	Q03181	OTTHUMG00000014567	ENST00000311565.4:c.147C>A	chr6.hg19:g.35387920C>A			A8K6J6|B4E3V3|B6ZGS1|B7Z3W1|E9PE18|Q5D1P0|Q7Z5K0|Q9BUD4	Silent	SNP	ENST00000311565.4	hg19	CCDS4803.1																																																																																				0.677	PPARD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040288.1	NM_006238		A	35387920	C	A	35387920	2	1	794	1	0	0	0	0	0	0	0	1	12300	668	24	4		4	PPARD	6	35387920	Silent	SNP	C	TCGA-SX-A7SR-01A-12D-A35Z-10		35387920	135727147	27	47281											
RUNX2	860	hgsc.bcm.edu	37	6	45390463	45390463	+	Silent	SNP	G	G	A			TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr6:45390463G>A	ENST00000371438.1	+	2	550	c.192G>A	c.(190-192)caG>caA	p.Q64Q	RUNX2_ENST00000465038.2_Silent_p.Q64Q|RUNX2_ENST00000371432.3_Silent_p.Q50Q|RUNX2_ENST00000371436.6_Silent_p.Q64Q|RUNX2_ENST00000576263.1_Silent_p.Q64Q|RUNX2_ENST00000541979.1_Silent_p.Q132Q|RUNX2_ENST00000352853.5_Silent_p.Q132Q|RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000359524.5_Silent_p.Q50Q	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																																																0													11	16	14					6																	45390463		1448	3096	4544	SO:0001819	synonymous_variant	860			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	chr6.hg19:g.45390463G>A			O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	hg19	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		A	45390463	G	A	45390463	2	1	794	1	0	0	0	0	0	0	0	1	13754	962	34	2		2	RUNX2	6	45390463	Silent	SNP	G	TCGA-SX-A7SR-01A-12D-A35Z-10	10002543	45390463	125724604	28	47282											
LAMB1	3912	hgsc.bcm.edu	37	7	107572669	107572669	+	Missense_Mutation	SNP	C	C	T			TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr7:107572669C>T	ENST00000222399.6	-	28	4572	c.4342G>A	c.(4342-4344)Gac>Aac	p.D1448N	LAMB1_ENST00000474380.1_5'UTR|LAMB1_ENST00000393561.1_Missense_Mutation_p.D1472N	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	1448	Domain I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|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-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						ACATCTTGGTCCAAGTCCATG	0.517																																																0													173	159	163					7																	107572669		2203	4300	6503	SO:0001583	missense	3912			M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"Laminins"	6486	protein-coding gene	gene with protein product		150240	"cutis laxa with marfanoid phenotype"	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.4342G>A	chr7.hg19:g.107572669C>T	ENSP00000222399:p.Asp1448Asn		Q14D91	Missense_Mutation	SNP	ENST00000222399.6	hg19	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	C	34	5.389844	0.95988	.	.	ENSG00000091136	ENST00000393561;ENST00000222399	T;T	0.32515	1.45;1.45	5.21	5.21	0.72293	.	.	.	.	.	T	0.54095	0.1837	M	0.62723	1.935	0.80722	D	1	P;D	0.76494	0.885;0.999	P;D	0.70487	0.468;0.969	T	0.52185	-0.8609	9	0.52906	T	0.07	.	18.9339	0.92577	0.0:1.0:0.0:0.0	.	1448;1472	P07942;G3XAI2	LAMB1_HUMAN;.	N	1472;1448	ENSP00000377191:D1472N;ENSP00000222399:D1448N	ENSP00000222399:D1448N	D	-	1	0	LAMB1	107359905	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.320000	0.79064	2.708000	0.92522	0.655000	0.94253	GAC		0.517	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		T	107572669	C	T	107572669	3	4	794	1	0	0	0	0	1	0	0	0	8612	855	30	2	1046	2	LAMB1	7	107572669	Missense_Mutation	SNP	C	TCGA-SX-A7SR-01A-12D-A35Z-10		107572669	51565994	29	47283											
ABCB8	11194	hgsc.bcm.edu	37	7	150725694	150725694	+	Missense_Mutation	SNP	T	T	A			TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr7:150725694T>A	ENST00000297504.6	+	1	158	c.92T>A	c.(91-93)gTc>gAc	p.V31D	RP11-148K1.10_ENST00000479085.1_RNA|ABCB8_ENST00000498578.1_Missense_Mutation_p.V31D|ABCB8_ENST00000358849.4_Missense_Mutation_p.V31D|ABCB8_ENST00000477092.1_Missense_Mutation_p.V31D|ABCB8_ENST00000477719.1_Missense_Mutation_p.V31D|ABCB8_ENST00000542328.1_Nonsense_Mutation_p.C47*|ABCB8_ENST00000356058.4_Missense_Mutation_p.V31D			Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	31					transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Doxorubicin(DB00997)	TTCTCAGCTGTCAGGTAAAAA	0.632											OREG0018445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													41	39	40					7																	150725694		2203	4300	6503	SO:0001583	missense	11194			AF047690	CCDS5913.1, CCDS64798.1, CCDS64799.1, CCDS64800.1	7q36.1	2012-05-16			ENSG00000197150	ENSG00000197150		"ATP binding cassette transporters / subfamily B"	49	protein-coding gene	gene with protein product	"mitochondrial ABC protein"	605464				8894702	Standard	NM_001282291		Approved	EST328128, M-ABC1, MABC1	uc003wik.4	Q9NUT2	OTTHUMG00000158686	ENST00000297504.6:c.92T>A	chr7.hg19:g.150725694T>A	ENSP00000297504:p.Val31Asp	1734	A5D8W3|B2RBL8|B3KND2|B4DG02|G3XAP3|O95787|Q53GM0	Missense_Mutation	SNP	ENST00000297504.6	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	26.8|26.8	4.772126|4.772126	0.90108|0.90108	.|.	.|.	ENSG00000197150|ENSG00000197150	ENST00000542328|ENST00000461373;ENST00000358849;ENST00000360651;ENST00000297504;ENST00000498578;ENST00000356058;ENST00000477719;ENST00000477092	.|D;D;D;D;D;D	.|0.91686	.|-2.75;-2.75;-2.89;-2.53;-2.23;-2.26	4.99|4.99	-0.764|-0.764	0.11027|0.11027	.|.	.|0.847859	.|0.10224	.|N	.|0.700511	.|D	.|0.86087	.|0.5849	L|L	0.27053|0.27053	0.805|0.805	0.43364|0.43364	D|D	0.995446|0.995446	.|B;P;P;P;P	.|0.51351	.|0.232;0.664;0.573;0.664;0.944	.|B;B;P;B;P	.|0.47346	.|0.193;0.261;0.448;0.368;0.544	.|T	.|0.78011	.|-0.2371	.|10	0.15066|0.46703	T|T	0.55|0.11	-0.4325|-0.4325	4.4338|4.4338	0.11540|0.11540	0.0:0.3635:0.1804:0.4561|0.0:0.3635:0.1804:0.4561	.|.	.|31;31;31;31;31	.|A5D8W3;Q9NUT2;Q9NUT2-2;C9JTY4;E7ENE8	.|.;ABCB8_HUMAN;.;.;.	X|D	47|31	.|ENSP00000351717:V31D;ENSP00000297504:V31D;ENSP00000418271:V31D;ENSP00000348353:V31D;ENSP00000419891:V31D;ENSP00000419558:V31D	ENSP00000438776:C47X|ENSP00000297504:V31D	C|V	+|+	3|2	2|0	ABCB8|ABCB8	150356627|150356627	1.000000|1.000000	0.71417|0.71417	0.902000|0.902000	0.35471|0.35471	0.779000|0.779000	0.44077|0.44077	0.244000|0.244000	0.18124|0.18124	-0.269000|-0.269000	0.09298|0.09298	-0.256000|-0.256000	0.11100|0.11100	TGT|GTC		0.632	ABCB8-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351733.2	NM_007188		A	150725694	T	A	150725694	3	1	794	1	0	0	0	0	1	0	0	0	47	1667	58	5	94	5	ABCB8	7	150725694	Missense_Mutation	SNP	T	TCGA-SX-A7SR-01A-12D-A35Z-10	43153025	150725694	8412969	30	47284											
C8orf80	389643	hgsc.bcm.edu	37	8	27918040	27918040	+	Missense_Mutation	SNP	G	G	T			TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr8:27918040G>T	ENST00000413272.2	-	8	1142	c.1000C>A	c.(1000-1002)Ctg>Atg	p.L334M	NUGGC_ENST00000341513.6_Missense_Mutation_p.L334M	NM_001010906.1	NP_001010906.1	Q68CJ6	SLIP_HUMAN	nuclear GTPase, germinal center associated	334					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)										CTCTCATTCAGAAGGTCTTCG	0.537											OREG0018675	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													57	58	57					8																	27918040		1960	4147	6107	SO:0001583	missense	389643			AB075870	CCDS47833.1	8p21.1	2012-06-07	2012-06-07	2012-06-07	ENSG00000189233	ENSG00000189233			33550	protein-coding gene	gene with protein product	"speckled-like pattern in the germinal center"		"chromosome 8 open reading frame 80"	C8orf80		19734146	Standard	NM_001010906		Approved	HMFN0672, SLIP-GC	uc003xgm.4	Q68CJ6	OTTHUMG00000155970	ENST00000413272.2:c.1000C>A	chr8.hg19:g.27918040G>T	ENSP00000408697:p.Leu334Met	99	Q6ZP73	Missense_Mutation	SNP	ENST00000413272.2	hg19	CCDS47833.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.117376	0.56505	.	.	ENSG00000189233	ENST00000413272;ENST00000341513	D;D	0.96334	-3.98;-3.98	5.67	3.84	0.44239	.	0.099090	0.41712	D	0.000832	D	0.96491	0.8855	M	0.71036	2.16	0.30739	N	0.746356	D	0.53151	0.958	P	0.56751	0.805	D	0.93916	0.7201	10	0.46703	T	0.11	-4.7393	7.9242	0.29865	0.0861:0.1608:0.7531:0.0	.	334	Q68CJ6	SLIP_HUMAN	M	334	ENSP00000408697:L334M;ENSP00000345031:L334M	ENSP00000345031:L334M	L	-	1	2	C8orf80	27973959	1.000000	0.71417	0.996000	0.52242	0.825000	0.46686	2.049000	0.41288	0.720000	0.32209	0.585000	0.79938	CTG		0.537	NUGGC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000342494.1	NM_001010906		T	27918040	G	T	27918040	3	4	794	1	0	0	0	0	1	0	0	0	2441	933	33	4	1438	4	C8orf80	8	27918040	Missense_Mutation	SNP	G	TCGA-SX-A7SR-01A-12D-A35Z-10		27918040	118445982	31	47285											
KIAA0146	23514	hgsc.bcm.edu	37	8	48625228	48625240	+	Frame_Shift_Del	DEL	AGAGTCTGCTGCT	AGAGTCTGCTGCT	-	rs547240956		TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	AGAGTCTGCTGCT	AGAGTCTGCTGCT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr8:48625228_48625240delAGAGTCTGCTGCT	ENST00000297423.4	+	15	2366_2378	c.1982_1994delAGAGTCTGCTGCT	c.(1981-1995)aagagtctgctgcttfs	p.KSLLL661fs	SPIDR_ENST00000518074.1_Frame_Shift_Del_p.KSLLL601fs|SPIDR_ENST00000517693.1_Frame_Shift_Del_p.KSLLL136fs|SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000541342.1_Frame_Shift_Del_p.KSLLL591fs	NM_001080394.2|NM_001282916.1	NP_001073863.1|NP_001269845.1	Q14159	SPIDR_HUMAN	scaffolding protein involved in DNA repair	661					cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of protein complex assembly (GO:0031334)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of establishment of protein localization to chromosome (GO:0070202)	nuclear chromosome (GO:0000228)											TTGTAGCTGAAGAGTCTGCTGCTTCTGGAGCAA	0.399																																																0																																										SO:0001589	frameshift_variant	23514			AK055680	CCDS43737.1, CCDS64890.1, CCDS64891.1	8q11.21	2013-07-02	2013-07-02	2013-07-02	ENSG00000164808	ENSG00000164808			28971	protein-coding gene	gene with protein product		615384	"KIAA0146"	KIAA0146		8590280, 23509288	Standard	XM_005251189		Approved		uc003xqd.3	Q14159	OTTHUMG00000164176	ENST00000297423.4:c.1982_1994delAGAGTCTGCTGCT	chr8.hg19:g.48625228_48625240delAGAGTCTGCTGCT	ENSP00000297423:p.Lys661fs		B4DFV2|B4E0Y6|Q96BI5	Frame_Shift_Del	DEL	ENST00000297423.4	hg19	CCDS43737.1																																																																																				0.399	SPIDR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377611.1	NM_001080394		-	48625240	AGAGTCTGCTGCT	-	48625228	7	5	794	1	0	1	0	1	0	0	0	0	8159	72	3	0	2040	0	KIAA0146	8	48625228	Frame_Shift_Del	DEL	AGAGTCTGCTGCT	TCGA-SX-A7SR-01A-12D-A35Z-10	20707188	48625228	97738794	32	47286											
ANKS6	203286	hgsc.bcm.edu	37	9	101540705	101540705	+	Splice_Site	SNP	G	G	A			TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr9:101540705G>A	ENST00000353234.4	-	7	1417	c.1370C>T	c.(1369-1371)tCc>tTc	p.S457F	ANKS6_ENST00000375019.2_Splice_Site_p.S156F|ANKS6_ENST00000540940.1_Splice_Site_p.S262F|ANKS6_ENST00000375018.1_Splice_Site_p.S457F			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	457						cilium (GO:0005929)|cytoplasm (GO:0005737)				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				GTTCCACCAGGACTGCCAAAG	0.572																																																0													29	34	32					9																	101540705		2117	4219	6336	SO:0001630	splice_region_variant	203286			AK094247	CCDS43856.1	9q31.1	2013-09-10	2006-02-17	2006-02-17	ENSG00000165138	ENSG00000165138		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	26724	protein-coding gene	gene with protein product		615370	"sterile alpha motif domain containing 6", "ankyrin repeat domain 14"	SAMD6, ANKRD14		23793029	Standard	XM_005251793		Approved	FLJ36928, NPHP16	uc004ayu.3	Q68DC2	OTTHUMG00000020347	ENST00000353234.4:c.1369-1C>T	chr9.hg19:g.101540705G>A			A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Missense_Mutation	SNP	ENST00000353234.4	hg19	CCDS43856.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.460139	0.84317	.	.	ENSG00000165138	ENST00000375019;ENST00000375018;ENST00000353234;ENST00000540940	T;T;T;T	0.72167	1.69;-0.62;-0.63;1.94	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.82949	0.5148	M	0.65498	2.005	0.58432	D	0.999994	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.996	D	0.84479	0.0604	10	0.72032	D	0.01	-24.47	16.6649	0.85250	0.0:0.0:1.0:0.0	.	457;457	Q68DC2-4;Q68DC2	.;ANKS6_HUMAN	F	156;457;457;262	ENSP00000364159:S156F;ENSP00000364158:S457F;ENSP00000297837:S457F;ENSP00000442189:S262F	ENSP00000297837:S457F	S	-	2	0	ANKS6	100580526	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	8.949000	0.93012	2.525000	0.85131	0.655000	0.94253	TCC		0.572	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277053.1	NM_173551	Missense_Mutation	A	101540705	G	A	101540705	5	1	794	1	0	0	0	0	0	0	1	0	692	1188	41	2	1281	2	ANKS6	9	101540705	Splice_Site	SNP	G	TCGA-SX-A7SR-01A-12D-A35Z-10		101540705	39672726	33	47287											
PPP6C	5537	hgsc.bcm.edu	37	9	127916020	127916020	+	Splice_Site	SNP	A	A	T			TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr9:127916020A>T	ENST00000373547.4	-	6	560	c.461T>A	c.(460-462)tTa>tAa	p.L154*	PPP6C_ENST00000373546.3_Splice_Site_p.L7*|PPP6C_ENST00000451402.1_Splice_Site_p.L191*|PPP6C_ENST00000415905.1_Splice_Site_p.L132*	NM_002721.4	NP_002712.1	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit	154					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						CTCATCTATTAACTAGCAAAA	0.343																																																0													48	47	48					9																	127916020		2203	4300	6503	SO:0001630	splice_region_variant	5537			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.460-1T>A	chr9.hg19:g.127916020A>T			B2R5V6|B7Z2W9|B7Z5K9|Q5U0A2|Q9UIC9	Nonsense_Mutation	SNP	ENST00000373547.4	hg19	CCDS6861.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.576849	0.86645	.	.	ENSG00000119414	ENST00000373547;ENST00000451402;ENST00000415905;ENST00000373546	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-29.0263	14.9689	0.71217	1.0:0.0:0.0:0.0	.	.	.	.	X	154;191;132;7	.	ENSP00000362647:L7X	L	-	2	0	PPP6C	126955841	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.910000	0.92685	2.132000	0.65825	0.377000	0.23210	TTA		0.343	PPP6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054060.1	NM_016294	Nonsense_Mutation	T	127916020	A	T	127916020	5	4	794	1	0	0	0	0	0	0	1	0	12412	376	13	5	464	5	PPP6C	9	127916020	Splice_Site	SNP	A	TCGA-SX-A7SR-01A-12D-A35Z-10	26375315	127916020	13297411	34	47288											
SH2D3C	10044	hgsc.bcm.edu	37	9	130502080	130502080	+	Missense_Mutation	SNP	G	G	A			TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr9:130502080G>A	ENST00000314830.8	-	11	2401	c.2288C>T	c.(2287-2289)cCt>cTt	p.P763L	SH2D3C_ENST00000373274.3_Missense_Mutation_p.P603L|SH2D3C_ENST00000373276.3_Missense_Mutation_p.P695L|SH2D3C_ENST00000420366.1_Missense_Mutation_p.P605L|SH2D3C_ENST00000429553.1_Missense_Mutation_p.P409L|SH2D3C_ENST00000373277.4_Missense_Mutation_p.P606L	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	763	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				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						CCAGGGCTCAGGGCCCTCTGG	0.662																																																0													19	17	17					9																	130502080		2199	4295	6494	SO:0001583	missense	10044			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.2288C>T	chr9.hg19:g.130502080G>A	ENSP00000317817:p.Pro763Leu		A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5	Missense_Mutation	SNP	ENST00000314830.8	hg19	CCDS6877.1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.908323	0.33721	.	.	ENSG00000095370	ENST00000373277;ENST00000420366;ENST00000373276;ENST00000373274;ENST00000429553;ENST00000314830	T;T;T;T;T;T	0.21031	2.86;2.86;2.61;2.86;2.03;2.84	5.24	5.24	0.73138	Guanine-nucleotide dissociation stimulator CDC25 (2);	0.349077	0.35040	N	0.003483	T	0.08268	0.0206	N	0.02213	-0.635	0.58432	D	0.999997	B;B;B;B;B	0.16396	0.0;0.017;0.0;0.0;0.001	B;B;B;B;B	0.15052	0.001;0.012;0.002;0.003;0.003	T	0.24764	-1.0151	10	0.08381	T	0.77	-12.6255	13.6889	0.62533	0.0:0.1545:0.8455:0.0	.	603;763;695;606;605	E9PG48;Q8N5H7;E7EUN5;Q8N5H7-2;Q8N5H7-5	.;SH2D3_HUMAN;.;.;.	L	606;605;695;603;409;763	ENSP00000362374:P606L;ENSP00000388536:P605L;ENSP00000362373:P695L;ENSP00000362371:P603L;ENSP00000394632:P409L;ENSP00000317817:P763L	ENSP00000317817:P763L	P	-	2	0	SH2D3C	129541901	0.730000	0.28100	0.976000	0.42696	0.919000	0.55068	1.793000	0.38764	2.732000	0.93576	0.561000	0.74099	CCT		0.662	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054264.1	NM_005489		A	130502080	G	A	130502080	3	1	794	1	0	0	0	0	1	0	0	0	14240	1000	35	2	302	2	SH2D3C	9	130502080	Missense_Mutation	SNP	G	TCGA-SX-A7SR-01A-12D-A35Z-10	2586060	130502080	10711351	35	47289											
GBGT1	26301	hgsc.bcm.edu	37	9	136030630	136030630	+	Missense_Mutation	SNP	C	C	G			TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr9:136030630C>G	ENST00000372040.3	-	6	605	c.294G>C	c.(292-294)gaG>gaC	p.E98D	GBGT1_ENST00000372043.3_Missense_Mutation_p.E98D|GBGT1_ENST00000540636.1_Missense_Mutation_p.E81D|RALGDS_ENST00000542690.1_Missense_Mutation_p.A111P|GBGT1_ENST00000472281.1_5'UTR|GBGT1_ENST00000372038.3_Missense_Mutation_p.A111P	NM_001282629.1	NP_001269558.1	Q8N5D6	GBGT1_HUMAN	globoside alpha-1,3-N-acetylgalactosaminyltransferase 1	98					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)		GCTGCAGAAGCTCTGGGTTGA	0.632																																																0													114	104	107					9																	136030630		2203	4300	6503	SO:0001583	missense	26301			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.294G>C	chr9.hg19:g.136030630C>G	ENSP00000361110:p.Glu98Asp		A8K633|B2RA95|B7Z8S5|Q45F07|Q5T7U9|Q5T7V1|Q8N2K4|Q9UKI5	Missense_Mutation	SNP	ENST00000372040.3	hg19	CCDS6960.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.731|4.731	0.135935|0.135935	0.09032|0.09032	.|.	.|.	ENSG00000160271;ENSG00000148288|ENSG00000148288	ENST00000542690;ENST00000372038|ENST00000372043;ENST00000372040;ENST00000540636	T;T|T;T;T	0.38560|0.01234	1.7;1.13|5.13;5.13;5.13	4.98|4.98	2.08|2.08	0.27032|0.27032	.|.	.|0.438261	.|0.23016	.|N	.|0.052913	T|T	0.00875|0.00875	0.0029|0.0029	N|N	0.25144|0.25144	0.715|0.715	0.09310|0.09310	N|N	0.999999|0.999999	B|B;B	0.06786|0.06786	0.001|0.001;0.001	B|B;B	0.09377|0.12156	0.004|0.004;0.007	T|T	0.49437|0.49437	-0.8940|-0.8940	9|10	0.87932|0.02654	D|T	0|1	-8.294|-8.294	2.9566|2.9566	0.05878|0.05878	0.1451:0.5578:0.1406:0.1565|0.1451:0.5578:0.1406:0.1565	.|.	111|81;98	F5H6M6|B7Z8S5;Q8N5D6	.|.;GBGT1_HUMAN	P|D	111|98;98;81	ENSP00000437518:A111P;ENSP00000361108:A111P|ENSP00000361113:E98D;ENSP00000361110:E98D;ENSP00000437663:E81D	ENSP00000361108:A111P|ENSP00000361110:E98D	A|E	-|-	1|3	0|2	GBGT1;RALGDS|GBGT1	135020451|135020451	0.001000|0.001000	0.12720|0.12720	0.017000|0.017000	0.16124|0.16124	0.019000|0.019000	0.09904|0.09904	-0.033000|-0.033000	0.12246|0.12246	0.135000|0.135000	0.18707|0.18707	-0.305000|-0.305000	0.09177|0.09177	GCT|GAG		0.632	GBGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054815.1	NM_021996		G	136030630	C	G	136030630	3	3	794	1	0	0	0	0	1	0	0	0	6274	796	28	4	757	4	GBGT1	9	136030630	Missense_Mutation	SNP	C	TCGA-SX-A7SR-01A-12D-A35Z-10	5528550	136030630	5182801	36	47290											
DPP7	29952	hgsc.bcm.edu	37	9	140008368	140008368	+	Missense_Mutation	SNP	A	A	G			TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr9:140008368A>G	ENST00000371579.2	-	4	438	c.434T>C	c.(433-435)cTa>cCa	p.L145P		NM_013379.2	NP_037511.2	Q9UHL4	DPP2_HUMAN	dipeptidyl-peptidase 7	145						cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633)		GTCGCGTCGTAGCGCGCGGAG	0.746																																																0													8	8	8					9																	140008368		2136	4172	6308	SO:0001583	missense	29952			AF154502	CCDS7030.1	9q34.3	2008-02-05	2006-01-12		ENSG00000176978	ENSG00000176978			14892	protein-coding gene	gene with protein product		610537	"dipeptidylpeptidase 7"			10477574, 11139392	Standard	XM_005266075		Approved	DPPII	uc004clh.3	Q9UHL4	OTTHUMG00000020977	ENST00000371579.2:c.434T>C	chr9.hg19:g.140008368A>G	ENSP00000360635:p.Leu145Pro		A8K7U7|Q5VSF1|Q969X4	Missense_Mutation	SNP	ENST00000371579.2	hg19	CCDS7030.1	.	.	.	.	.	.	.	.	.	.	A	14.49	2.551014	0.45383	.	.	ENSG00000176978	ENST00000371579	D	0.93366	-3.21	4.5	4.5	0.54988	.	0.000000	0.64402	D	0.000007	D	0.97315	0.9122	H	0.95151	3.63	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97574	1.0106	10	0.72032	D	0.01	-33.7912	10.0965	0.42478	1.0:0.0:0.0:0.0	.	145	Q9UHL4	DPP2_HUMAN	P	145	ENSP00000360635:L145P	ENSP00000360635:L145P	L	-	2	0	DPP7	139128189	0.937000	0.31787	0.066000	0.19879	0.003000	0.03518	3.290000	0.51755	1.888000	0.54679	0.454000	0.30748	CTA		0.746	DPP7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055279.1	NM_013379		G	140008368	A	G	140008368	3	3	794	1	0	0	0	0	1	0	0	0	4733	420	15	3	1084	3	DPP7	9	140008368	Missense_Mutation	SNP	A	TCGA-SX-A7SR-01A-12D-A35Z-10	3977738	140008368	1205063	37	47291											
NET1	10276	hgsc.bcm.edu	37	10	5494436	5494436	+	Frame_Shift_Del	DEL	T	T	-			TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr10:5494436delT	ENST00000355029.4	+	5	621	c.479delT	c.(478-480)ctgfs	p.L160fs	NET1_ENST00000380359.3_Frame_Shift_Del_p.L106fs|NET1_ENST00000542715.1_5'UTR	NM_001047160.2	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	160					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						TCAGAGATGCTGGACATCACC	0.532																																																0													97	85	89					10																	5494436		2203	4300	6503	SO:0001589	frameshift_variant	10276			AJ010046	CCDS7067.1, CCDS41483.1	10p15	2013-01-10	2008-09-12		ENSG00000173848	ENSG00000173848		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	14592	protein-coding gene	gene with protein product		606450				8649828	Standard	NR_073040		Approved	ARHGEF8, NET1A	uc001iia.4	Q7Z628	OTTHUMG00000017596	ENST00000355029.4:c.479delT	chr10.hg19:g.5494436delT	ENSP00000347134:p.Leu160fs		Q12773|Q96D82|Q99903|Q9UEN6	Frame_Shift_Del	DEL	ENST00000355029.4	hg19	CCDS41483.1																																																																																				0.532	NET1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046553.3	NM_005863		-	5494436	T	-	5494436	7	5	794	1	0	1	0	1	0	0	0	0	10340	1580	55	0	594	0	NET1	10	5494436	Frame_Shift_Del	DEL	T	TCGA-SX-A7SR-01A-12D-A35Z-10		5494436	130040311	38	47292											
CUBN	8029	hgsc.bcm.edu	37	10	17164807	17164807	+	Missense_Mutation	SNP	T	T	C			TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr10:17164807T>C	ENST00000377833.4	-	6	645	c.580A>G	c.(580-582)Atg>Gtg	p.M194V		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	194	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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)	TAACTTCCCATTGTATTAACA	0.368																																																0													64	57	59					10																	17164807		2203	4300	6503	SO:0001583	missense	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.580A>G	chr10.hg19:g.17164807T>C	ENSP00000367064:p.Met194Val		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	hg19	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	T	1.180	-0.638441	0.03557	.	.	ENSG00000107611	ENST00000377833;ENST00000433666	D;D	0.91407	-2.84;-2.84	5.22	-5.63	0.02474	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	2.038200	0.02936	N	0.139880	T	0.67702	0.2921	N	0.00894	-1.105	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.65772	-0.6087	10	0.14656	T	0.56	.	2.2608	0.04067	0.1568:0.2399:0.373:0.2303	.	194	O60494	CUBN_HUMAN	V	194;81	ENSP00000367064:M194V;ENSP00000415970:M81V	ENSP00000367064:M194V	M	-	1	0	CUBN	17204813	0.108000	0.22018	0.001000	0.08648	0.501000	0.33797	-0.357000	0.07651	-1.082000	0.03101	-1.292000	0.01352	ATG		0.368	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		C	17164807	T	C	17164807	3	2	794	1	0	0	0	0	1	0	0	0	4053	1493	52	3	10539	3	CUBN	10	17164807	Missense_Mutation	SNP	T	TCGA-SX-A7SR-01A-12D-A35Z-10	11670371	17164807	118369940	39	47293											
TUBGCP2	10844	hgsc.bcm.edu	37	10	135095734	135095735	+	Missense_Mutation	DNP	GC	GC	AT			TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr10:135095734_135095735GC>AT	ENST00000252936.3	-	15	2440_2441	c.2401_2402GC>AT	c.(2401-2403)GCc>ATc	p.A801I	TUBGCP2_ENST00000417178.2_Missense_Mutation_p.A671I|TUBGCP2_ENST00000543663.1_Missense_Mutation_p.A829I|TUBGCP2_ENST00000368563.2_Missense_Mutation_p.A801I|TUBGCP2_ENST00000368562.1_Missense_Mutation_p.A394I			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	801					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)		CACCTTCCTGGCGAGCTCCTTC	0.688																																																0																																										SO:0001583	missense	10844			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.2401_2402delinsAT	chr10.hg19:g.135095734_135095735delinsAT	ENSP00000252936:p.Ala801Ile		B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	Missense_Mutation	SNP	ENST00000252936.3	hg19	CCDS7676.1																																																																																				0.688	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051148.1			AT	135095735	GC	AT	135095734	3	1	794	1	0	0	0	0	1	0	0	0	16771	1203	42	2	318	2	TUBGCP2	10	135095734	Missense_Mutation	DNP	GC	TCGA-SX-A7SR-01A-12D-A35Z-10	117930927	135095734	439013	40	47294											
PIK3C2A	5286	hgsc.bcm.edu	37	11	17156501	17156501	+	Missense_Mutation	SNP	A	A	G			TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr11:17156501A>G	ENST00000265970.7	-	10	1972	c.1973T>C	c.(1972-1974)cTc>cCc	p.L658P	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.L278P	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	658					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						ATTTGCATGGAGTCTGAGAAG	0.378																																																0													140	138	139					11																	17156501		2200	4293	6493	SO:0001583	missense	5286			Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"phosphoinositide-3-kinase, class 2, alpha polypeptide"			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.1973T>C	chr11.hg19:g.17156501A>G	ENSP00000265970:p.Leu658Pro		B0LPH2|B4E2G4|Q14CQ9	Missense_Mutation	SNP	ENST00000265970.7	hg19	CCDS7824.1	.	.	.	.	.	.	.	.	.	.	A	19.20	3.781930	0.70222	.	.	ENSG00000011405	ENST00000265970;ENST00000540361	T;T	0.68331	-0.32;0.14	5.59	4.48	0.54585	.	0.190360	0.47852	N	0.000211	T	0.79311	0.4424	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.80246	-0.1462	10	0.72032	D	0.01	-2.1001	11.3443	0.49552	0.9293:0.0:0.0707:0.0	.	658	O00443	P3C2A_HUMAN	P	658;278	ENSP00000265970:L658P;ENSP00000438687:L278P	ENSP00000265970:L658P	L	-	2	0	PIK3C2A	17113077	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.637000	0.83313	0.987000	0.38709	0.477000	0.44152	CTC		0.378	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645		G	17156501	A	G	17156501	3	3	794	1	0	0	0	0	1	0	0	0	11911	304	11	3	3179	3	PIK3C2A	11	17156501	Missense_Mutation	SNP	A	TCGA-SX-A7SR-01A-12D-A35Z-10		17156501	117850015	41	47295											
FJX1	24147	hgsc.bcm.edu	37	11	35641396	35641396	+	Silent	SNP	C	C	G			TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr11:35641396C>G	ENST00000317811.4	+	1	1662	c.1212C>G	c.(1210-1212)gcC>gcG	p.A404A	FJX1_ENST00000532914.1_3'UTR	NM_014344.3	NP_055159.2	Q86VR8	FJX1_HUMAN	four jointed box 1 (Drosophila)	404					retina layer formation (GO:0010842)	extracellular space (GO:0005615)				lung(1)|urinary_tract(1)	2	all_cancers(35;0.177)|all_lung(20;0.0238)|Lung NSC(22;0.0494)|all_epithelial(35;0.0739)	all_hematologic(20;0.107)				AGCTGGCCGCCCTTGCAGACC	0.711																																					Melanoma(161;10 2587 27165 47356)											0													4	5	5					11																	35641396		1828	3908	5736	SO:0001819	synonymous_variant	24147			AJ245599	CCDS44570.1	11p13	2012-05-18				ENSG00000179431			17166	protein-coding gene	gene with protein product	"putative secreted ligand homologous to fjx1"	612206				7647465, 10072791	Standard	NM_014344		Approved	FLJ22416, FLJ25593	uc001mwh.3	Q86VR8		ENST00000317811.4:c.1212C>G	chr11.hg19:g.35641396C>G			B2RCA9|Q9UGK6	Silent	SNP	ENST00000317811.4	hg19	CCDS44570.1																																																																																				0.711	FJX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389078.1	NM_014344		G	35641396	C	G	35641396	2	3	794	1	0	0	0	0	0	0	0	1	5903	610	22	4		4	FJX1	11	35641396	Silent	SNP	C	TCGA-SX-A7SR-01A-12D-A35Z-10	18484895	35641396	99365120	42	47296											
CNTF	1270	hgsc.bcm.edu	37	11	58391563	58391569	+	Frame_Shift_Del	DEL	AGTGGCA	AGTGGCA	-			TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	AGTGGCA	AGTGGCA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr11:58391563_58391569delAGTGGCA	ENST00000361987.4	+	2	251_257	c.171_177delAGTGGCA	c.(169-177)ccagtggcafs	p.PVA57fs	ZFP91-CNTF_ENST00000389919.4_3'UTR	NM_000614.3	NP_000605.1	P26441	CNTF_HUMAN	ciliary neurotrophic factor	57					ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|growth (GO:0040007)|muscle organ morphogenesis (GO:0048644)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of photoreceptor cell differentiation (GO:0046533)|neuron development (GO:0048666)|positive regulation of cell proliferation (GO:0008284)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of retinal cell programmed cell death (GO:0046668)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor activity (GO:0008083)|interleukin-6 receptor binding (GO:0005138)			NS(1)|breast(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)	10		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				ATGGGATGCCAGTGGCAAGCACTGATC	0.527																																																0																																										SO:0001589	frameshift_variant	1270			BC068030	CCDS31554.1	11q12	2011-07-21			ENSG00000242689	ENSG00000242689			2169	protein-coding gene	gene with protein product		118945				1840538, 1714745	Standard	NM_000614		Approved	HCNTF	uc001nna.4	P26441	OTTHUMG00000137476	ENST00000361987.4:c.171_177delAGTGGCA	chr11.hg19:g.58391563_58391569delAGTGGCA	ENSP00000355370:p.Pro57fs		B2RAB2	Frame_Shift_Del	DEL	ENST00000361987.4	hg19	CCDS31554.1																																																																																				0.527	CNTF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268673.1	NM_000614		-	58391569	AGTGGCA	-	58391563	7	5	794	1	0	1	0	1	0	0	0	0	3639	175	7	0	177	0	CNTF	11	58391563	Frame_Shift_Del	DEL	AGTGGCA	TCGA-SX-A7SR-01A-12D-A35Z-10	22750167	58391563	76614953	43	47297											
UCP3	7352	hgsc.bcm.edu	37	11	73715620	73715620	+	Silent	SNP	G	G	T			TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr11:73715620G>T	ENST00000314032.4	-	5	1104	c.552C>A	c.(550-552)ccC>ccA	p.P184P	UCP3_ENST00000426995.2_Silent_p.P184P|UCP3_ENST00000545271.1_5'Flank|UCP3_ENST00000348534.4_Intron	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN	uncoupling protein 3 (mitochondrial, proton carrier)	184					aging (GO:0007568)|cellular metabolic process (GO:0044237)|cellular response to hormone stimulus (GO:0032870)|fatty acid metabolic process (GO:0006631)|lipid metabolic process (GO:0006629)|mitochondrial transport (GO:0006839)|proton transport (GO:0015992)|respiratory electron transport chain (GO:0022904)|respiratory gaseous exchange (GO:0007585)|response to activity (GO:0014823)|response to cold (GO:0009409)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|response to superoxide (GO:0000303)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	oxidative phosphorylation uncoupler activity (GO:0017077)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					TCATGATGTTGGGCAAAGTTC	0.562																																																0													182	134	151					11																	73715620		2200	4293	6493	SO:0001819	synonymous_variant	7352			AF001787	CCDS8229.1, CCDS44677.1	11q13.4	2013-05-22				ENSG00000175564		"Solute carriers"	12519	protein-coding gene	gene with protein product		602044				9480760, 9196039	Standard	NM_003356		Approved	SLC25A9	uc001our.3	P55916		ENST00000314032.4:c.552C>A	chr11.hg19:g.73715620G>T			O60475|Q96HL3	Silent	SNP	ENST00000314032.4	hg19	CCDS8229.1																																																																																				0.562	UCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398200.1	NM_003356		T	73715620	G	T	73715620	2	4	794	1	0	0	0	0	0	0	0	1	16937	1335	47	4		4	UCP3	11	73715620	Silent	SNP	G	TCGA-SX-A7SR-01A-12D-A35Z-10	15324057	73715620	61290896	44	47298											
PDE3A	5139	hgsc.bcm.edu	37	12	20803382	20803382	+	Missense_Mutation	SNP	A	A	T			TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr12:20803382A>T	ENST00000359062.3	+	14	2813	c.2773A>T	c.(2773-2775)Aat>Tat	p.N925Y	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	925	Catalytic. {ECO:0000250}.				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)	CAAATAGGTAAATGATGATGT	0.284																																																0													120	120	120					12																	20803382		2203	4300	6503	SO:0001583	missense	5139				CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"Phosphodiesterases"	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.2773A>T	chr12.hg19:g.20803382A>T	ENSP00000351957:p.Asn925Tyr		O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	hg19	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	A	19.56	3.850442	0.71719	.	.	ENSG00000172572	ENST00000359062	T	0.77877	-1.13	5.96	5.96	0.96718	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.205141	0.52532	D	0.000063	D	0.88020	0.6325	M	0.77712	2.385	0.47183	D	0.999345	D	0.76494	0.999	D	0.71184	0.972	D	0.89336	0.3650	10	0.87932	D	0	.	16.4484	0.83959	1.0:0.0:0.0:0.0	.	925	Q14432	PDE3A_HUMAN	Y	925	ENSP00000351957:N925Y	ENSP00000351957:N925Y	N	+	1	0	PDE3A	20694649	1.000000	0.71417	0.985000	0.45067	0.899000	0.52679	6.909000	0.75735	2.285000	0.76669	0.533000	0.62120	AAT		0.284	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			T	20803382	A	T	20803382	3	4	794	1	0	0	0	0	1	0	0	0	11639	14	1	5	2827	5	PDE3A	12	20803382	Missense_Mutation	SNP	A	TCGA-SX-A7SR-01A-12D-A35Z-10		20803382	113048513	45	47299											
KRT5	3852	hgsc.bcm.edu	37	12	52913749	52913749	+	Missense_Mutation	SNP	G	G	T			TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr12:52913749G>T	ENST00000252242.4	-	1	722	c.332C>A	c.(331-333)gCt>gAt	p.A111D		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	111	Gly-rich.|Head.				cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		gccaccaccagctccaccgcc	0.617																																																0													114	123	120					12																	52913749		2203	4300	6503	SO:0001583	missense	3852				CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"-", "Intermediate filaments type II, keratins (basic)"	6442	protein-coding gene	gene with protein product		148040	"epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types", "keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.332C>A	chr12.hg19:g.52913749G>T	ENSP00000252242:p.Ala111Asp		Q6PI71|Q6UBJ0|Q8TA91	Missense_Mutation	SNP	ENST00000252242.4	hg19	CCDS8830.1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.940206	0.34283	.	.	ENSG00000186081	ENST00000252242;ENST00000456000;ENST00000551275;ENST00000546577	D;T;T	0.95885	-3.84;-1.02;1.19	5.73	2.87	0.33458	.	0.273876	0.26153	N	0.026035	D	0.89945	0.6862	L	0.31476	0.935	0.28550	N	0.911671	B	0.27559	0.181	B	0.22880	0.042	T	0.82764	-0.0296	10	0.49607	T	0.09	.	8.3726	0.32423	0.1332:0.3506:0.5161:0.0	.	111	P13647	K2C5_HUMAN	D	111;76;76;111	ENSP00000252242:A111D;ENSP00000448041:A76D;ENSP00000449651:A111D	ENSP00000252242:A111D	A	-	2	0	KRT5	51200016	0.000000	0.05858	0.782000	0.31804	0.980000	0.70556	-0.269000	0.08596	0.323000	0.23307	0.655000	0.94253	GCT		0.617	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405312.1			T	52913749	G	T	52913749	3	4	794	1	0	0	0	0	1	0	0	0	8481	971	34	4	1476	4	KRT5	12	52913749	Missense_Mutation	SNP	G	TCGA-SX-A7SR-01A-12D-A35Z-10	32110367	52913749	80938146	46	47300											
RBMS2	5939	hgsc.bcm.edu	37	12	56975006	56975007	+	Frame_Shift_Ins	INS	-	-	T			TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr12:56975006_56975007insT	ENST00000262031.5	+	6	676_677	c.581_582insT	c.(580-585)cactttfs	p.F195fs	RBMS2_ENST00000542360.1_Frame_Shift_Ins_p.F50fs|RBMS2_ENST00000552247.2_Frame_Shift_Ins_p.F195fs|RBMS2_ENST00000550726.1_Frame_Shift_Ins_p.F70fs	NM_002898.3	NP_002889.1	Q15434	RBMS2_HUMAN	RNA binding motif, single stranded interacting protein 2	195	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1)	18						ATCATCACCCACTTTAATGGAA	0.495																																																0																																										SO:0001589	frameshift_variant	5939			D28483	CCDS8923.1	12q13.13	2013-02-12			ENSG00000076067	ENSG00000076067		"RNA binding motif (RRM) containing"	9909	protein-coding gene	gene with protein product		602387				8041632	Standard	NM_002898		Approved	SCR3	uc001sln.2	Q15434	OTTHUMG00000170488	Exception_encountered	chr12.hg19:g.56975006_56975007insT	ENSP00000262031:p.Phe195fs			Frame_Shift_Ins	INS	ENST00000262031.5	hg19	CCDS8923.1																																																																																				0.495	RBMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409366.2	NM_002898		T	56975007	-	T	56975006	7	5	794	1	0	1	1	0	0	0	0	0	13155	159	6	0	603	0	RBMS2	12	56975006	Frame_Shift_Ins	INS	-	TCGA-SX-A7SR-01A-12D-A35Z-10	4061257	56975006	76876889	47	47301											
SDR9C7	121214	hgsc.bcm.edu	37	12	57324030	57324030	+	Silent	SNP	C	C	T			TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr12:57324030C>T	ENST00000293502.1	-	2	683	c.540G>A	c.(538-540)gaG>gaA	p.E180E		NM_148897.2	NP_683695.1	Q8NEX9	DR9C7_HUMAN	short chain dehydrogenase/reductase family 9C, member 7	180					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						CAGAGAAGGCCTCAACGCCAA	0.547																																																0													128	126	126					12																	57324030		2203	4300	6503	SO:0001819	synonymous_variant	121214			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.540G>A	chr12.hg19:g.57324030C>T			B3KVB4	Silent	SNP	ENST00000293502.1	hg19	CCDS8926.1																																																																																				0.547	SDR9C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411211.1	NM_148897		T	57324030	C	T	57324030	2	4	794	1	0	0	0	0	0	0	0	1	13980	680	24	2		2	SDR9C7	12	57324030	Silent	SNP	C	TCGA-SX-A7SR-01A-12D-A35Z-10	349024	57324030	76527865	48	47302											
PAWR	5074	hgsc.bcm.edu	37	12	80083574	80083574	+	Missense_Mutation	SNP	T	T	A			TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr12:80083574T>A	ENST00000328827.4	-	2	823	c.451A>T	c.(451-453)Atc>Ttc	p.I151F	PAWR_ENST00000547571.1_5'UTR|RP11-530C5.1_ENST00000551995.1_lincRNA	NM_002583.2	NP_002574.2	Q96IZ0	PAWR_HUMAN	PRKC, apoptosis, WT1, regulator	151	Selective for apoptosis induction in cancer cells (SAC).				actin filament bundle assembly (GO:0051017)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|interleukin-2 biosynthetic process (GO:0042094)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|positive regulation of apoptotic process (GO:0043065)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|enzyme binding (GO:0019899)|leucine zipper domain binding (GO:0043522)|transcription corepressor activity (GO:0003714)			NS(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						CTCTTCTCGATCTGCCCCTTG	0.726																																																0													12	12	12					12																	80083574		2199	4297	6496	SO:0001583	missense	5074			U63809	CCDS31863.1	12q21.2	2013-03-07			ENSG00000177425	ENSG00000177425			8614	protein-coding gene	gene with protein product	"prostate apoptosis response-4"	601936				8943350, 9790775	Standard	NM_002583		Approved	par-4, PAR4	uc001syx.3	Q96IZ0	OTTHUMG00000170080	ENST00000328827.4:c.451A>T	chr12.hg19:g.80083574T>A	ENSP00000328088:p.Ile151Phe		O75796|Q6FHY9|Q8N700	Missense_Mutation	SNP	ENST00000328827.4	hg19	CCDS31863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	31|31	5.100151|5.100151	0.94197|0.94197	.|.	.|.	ENSG00000177425|ENSG00000177425	ENST00000551712|ENST00000328827	.|T	.|0.09630	.|2.96	3.6|3.6	3.6|3.6	0.41247|0.41247	.|.	.|0.059454	.|0.64402	.|D	.|0.000003	T|T	0.21962|0.21962	0.0529|0.0529	L|L	0.48642|0.48642	1.525|1.525	0.80722|0.80722	D|D	1|1	.|D	.|0.67145	.|0.996	.|D	.|0.64410	.|0.925	T|T	0.00926|0.00926	-1.1512|-1.1512	5|9	.|.	.|.	.|.	-3.2716|-3.2716	12.3682|12.3682	0.55240|0.55240	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|151	.|Q96IZ0	.|PAWR_HUMAN	V|F	96|151	.|ENSP00000328088:I151F	.|.	D|I	-|-	2|1	0|0	PAWR|PAWR	78607705|78607705	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	6.617000|6.617000	0.74210|0.74210	1.482000|1.482000	0.48325|0.48325	0.460000|0.460000	0.39030|0.39030	GAT|ATC		0.726	PAWR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407175.1	NM_002583		A	80083574	T	A	80083574	3	1	794	1	0	0	0	0	1	0	0	0	11479	1435	50	5	595	5	PAWR	12	80083574	Missense_Mutation	SNP	T	TCGA-SX-A7SR-01A-12D-A35Z-10	22759544	80083574	53768321	49	47303											
NUDT4	11163	hgsc.bcm.edu	37	12	93793130	93793130	+	Missense_Mutation	SNP	C	C	A	rs142846389		TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr12:93793130C>A	ENST00000415493.2	+	5	945	c.518C>A	c.(517-519)tCt>tAt	p.S173Y	NUDT4_ENST00000549992.1_Missense_Mutation_p.S121Y|NUDT4_ENST00000548662.1_Missense_Mutation_p.S121Y|NUDT4_ENST00000337179.5_Missense_Mutation_p.S174Y|NUDT4_ENST00000547014.1_Missense_Mutation_p.S122Y	NM_019094.4	NP_061967.3	Q9NZJ9	NUDT4_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 4	173					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						GCACAGACCTCTGGGTTGCCA	0.498																																																0													111	119	117					12																	93793130		2203	4300	6503	SO:0001583	missense	11163			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.518C>A	chr12.hg19:g.93793130C>A	ENSP00000406612:p.Ser173Tyr		B7Z916|Q4AEJ6|Q53EZ2|Q68DD7|Q9NPC5|Q9NS30|Q9NZK0|Q9NZK1	Missense_Mutation	SNP	ENST00000415493.2	hg19	CCDS44952.1	.	.	.	.	.	.	.	.	.	.	C	14.36	2.511311	0.44660	.	.	ENSG00000173598	ENST00000337179;ENST00000415493;ENST00000549992;ENST00000548662;ENST00000547014	T;T	0.34859	1.34;1.34	5.53	5.53	0.82687	.	0.259165	0.46442	D	0.000298	T	0.29158	0.0725	L	0.27053	0.805	0.49582	D	0.999805	P;P	0.37276	0.589;0.454	B;B	0.31245	0.126;0.059	T	0.14671	-1.0464	10	0.87932	D	0	-30.8911	19.8241	0.96610	0.0:1.0:0.0:0.0	.	174;173	Q9NZJ9-2;Q9NZJ9	.;NUDT4_HUMAN	Y	174;173;121;121;122	ENSP00000338352:S174Y;ENSP00000406612:S173Y	ENSP00000338352:S174Y	S	+	2	0	NUDT4	92317261	1.000000	0.71417	0.996000	0.52242	0.160000	0.22226	6.247000	0.72411	2.758000	0.94735	0.655000	0.94253	TCT		0.498	NUDT4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407702.1	NM_019094		A	93793130	C	A	93793130	3	1	794	1	0	0	0	0	1	0	0	0	10743	913	32	4	539	4	NUDT4	12	93793130	Missense_Mutation	SNP	C	TCGA-SX-A7SR-01A-12D-A35Z-10	13709556	93793130	40058765	50	47304											
METAP2	84101	hgsc.bcm.edu	37	12	95907668	95907668	+	IGR	SNP	A	A	T			TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr12:95907668A>T	ENST00000258499.3	-	0	4022				METAP2_ENST00000261220.9_Silent_p.G452G|METAP2_ENST00000323666.5_Silent_p.G475G|METAP2_ENST00000551840.1_Silent_p.G474G|METAP2_ENST00000546753.1_Silent_p.G452G|METAP2_ENST00000550777.1_Silent_p.G439G	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44						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						TCAGCAGAGGAGATGACTATT	0.378																																																0													121	105	110					12																	95907668		2203	4300	6503	SO:0001628	intergenic_variant	10988			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			chr12.hg19:g.95907668A>T			B2RDW3	Silent	SNP	ENST00000258499.3	hg19	CCDS9053.1																																																																																				0.378	USP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408312.1	NM_032147		T	95907668	A	T	95907668	1	4	794	0	1	0	0	0	0	0	0	0	9489	291	11	5		5	METAP2	12	95907668	IGR	SNP	A	TCGA-SX-A7SR-01A-12D-A35Z-10	2114538	95907668	37944227	51	47305											
ATXN2	6311	hgsc.bcm.edu	37	12	112036794	112036794	+	Silent	SNP	C	C	T			TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr12:112036794C>T	ENST00000377617.3	-	1	686	c.525G>A	c.(523-525)caG>caA	p.Q175Q	ATXN2_ENST00000542287.2_Intron|ATXN2_ENST00000550104.1_Silent_p.Q175Q|ATXN2_ENST00000389153.4_5'Flank|ATXN2_ENST00000608853.1_Silent_p.Q15Q|RP11-686G8.2_ENST00000547021.1_RNA|ATXN2_ENST00000549455.1_5'UTR|ATXN2_ENST00000535949.1_Intron	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	175	Poly-Gln.				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						gctgctgctgctgctgctgct	0.731																																																0													1	1	1					12																	112036794		704	1738	2442	SO:0001819	synonymous_variant	6311			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.525G>A	chr12.hg19:g.112036794C>T			A6NLD4|Q6ZQZ7|Q99493	Silent	SNP	ENST00000377617.3	hg19	CCDS31902.1																																																																																				0.731	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257351.3	NM_002973		T	112036794	C	T	112036794	2	4	794	1	0	0	0	0	0	0	0	1	1211	796	28	2		2	ATXN2	12	112036794	Silent	SNP	C	TCGA-SX-A7SR-01A-12D-A35Z-10	16129126	112036794	21815101	52	47306											
ANAPC5	51433	hgsc.bcm.edu	37	12	121747554	121747554	+	Missense_Mutation	SNP	T	T	C			TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr12:121747554T>C	ENST00000261819.3	-	16	2127	c.2006A>G	c.(2005-2007)aAg>aGg	p.K669R	ANAPC5_ENST00000344395.4_Missense_Mutation_p.K557R|ANAPC5_ENST00000441917.2_Missense_Mutation_p.K557R|ANAPC5_ENST00000541887.1_Missense_Mutation_p.K656R|ANAPC5_ENST00000535482.1_Missense_Mutation_p.K335R|ANAPC5_ENST00000544314.1_5'UTR	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	669					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)					CACCTGGCACTTGGCCACTAA	0.522																																																0													86	78	81					12																	121747554		2203	4300	6503	SO:0001583	missense	51433			AF191339	CCDS9220.1, CCDS45000.1	12q24.31	2014-08-12			ENSG00000089053	ENSG00000089053		"Anaphase promoting complex subunits"	15713	protein-coding gene	gene with protein product		606948				9469815	Standard	NM_016237		Approved	APC5	uc001uag.3	Q9UJX4	OTTHUMG00000169157	ENST00000261819.3:c.2006A>G	chr12.hg19:g.121747554T>C	ENSP00000261819:p.Lys669Arg		E9PFB2|Q8N4H7|Q9BQD4	Missense_Mutation	SNP	ENST00000261819.3	hg19	CCDS9220.1	.	.	.	.	.	.	.	.	.	.	T	14.89	2.669258	0.47677	.	.	ENSG00000089053	ENST00000441917;ENST00000541887;ENST00000261819;ENST00000535482;ENST00000544314;ENST00000344395	T;T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95;-0.95	5.75	5.75	0.90469	Tetratricopeptide-like helical (1);	0.050321	0.85682	D	0.000000	T	0.65943	0.2740	L	0.32530	0.975	0.80722	D	1	B;B;B	0.20368	0.044;0.002;0.005	B;B;B	0.22753	0.041;0.002;0.003	T	0.61043	-0.7142	10	0.32370	T	0.25	.	15.2318	0.73395	0.0:0.0:0.0:1.0	.	335;557;669	F5H0N1;E9PFB2;Q9UJX4	.;.;APC5_HUMAN	R	557;656;669;335;271;557	ENSP00000415061:K557R;ENSP00000439875:K656R;ENSP00000261819:K669R;ENSP00000438754:K335R;ENSP00000343787:K557R	ENSP00000261819:K669R	K	-	2	0	ANAPC5	120231937	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.267000	0.65530	2.189000	0.69895	0.454000	0.30748	AAG		0.522	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402582.1			C	121747554	T	C	121747554	3	2	794	1	0	0	0	0	1	0	0	0	605	1609	56	3	269	3	ANAPC5	12	121747554	Missense_Mutation	SNP	T	TCGA-SX-A7SR-01A-12D-A35Z-10	9710760	121747554	12104341	53	47307											
NEK3	4752	hgsc.bcm.edu	37	13	52730287	52730287	+	Missense_Mutation	SNP	A	A	G			TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr13:52730287A>G	ENST00000400357.2	-	1	1333	c.40T>C	c.(40-42)Tcc>Ccc	p.S14P	NEK3_ENST00000339406.3_Missense_Mutation_p.S14P|NEK3_ENST00000452082.2_Missense_Mutation_p.S35P|NEK3_ENST00000378101.2_Missense_Mutation_p.S14P			P51956	NEK3_HUMAN	NIMA-related kinase 3	14	Interaction with VAV2.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.			S -> F (in Ref. 1; BAC15599). {ECO:0000305}.	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)		CTGCCGAAGGAGCCCTCCCCA	0.502																																																0													68	64	65					13																	52730287		1924	4148	6072	SO:0001583	missense	4752			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.40T>C	chr13.hg19:g.52730287A>G	ENSP00000383210:p.Ser14Pro		A8K2J4|Q5TAP2|Q8J023|Q8WUN5	Missense_Mutation	SNP	ENST00000400357.2	hg19	CCDS53871.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.636807	0.87760	.	.	ENSG00000136098	ENST00000339406;ENST00000378101;ENST00000400357;ENST00000452082;ENST00000547422;ENST00000550841	T;T;T;T;T;T	0.54071	1.65;1.65;1.65;1.65;0.59;1.9	5.91	4.7	0.59300	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.100564	0.64402	D	0.000001	T	0.72471	0.3464	.	.	.	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.995;1.0;0.999	T	0.75695	-0.3228	9	0.87932	D	0	.	12.2965	0.54849	0.8729:0.0:0.0:0.127	.	14;35;14	P51956;Q6ZN64;F8VS47	NEK3_HUMAN;.;.	P	14;14;14;35;14;14	ENSP00000339429:S14P;ENSP00000367341:S14P;ENSP00000383210:S14P;ENSP00000404197:S35P;ENSP00000448716:S14P;ENSP00000449679:S14P	ENSP00000448782:S14P	S	-	1	0	NEK3	51628288	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.283000	0.72646	1.018000	0.39521	0.533000	0.62120	TCC		0.502	NEK3-002	KNOWN	upstream_ATG|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045047.3			G	52730287	A	G	52730287	3	3	794	1	0	0	0	0	1	0	0	0	10327	304	11	3	1540	3	NEK3	13	52730287	Missense_Mutation	SNP	A	TCGA-SX-A7SR-01A-12D-A35Z-10		52730287	62439591	54	47308											
MYCBP2	23077	hgsc.bcm.edu	37	13	77853046	77853046	+	Splice_Site	SNP	T	T	G			TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr13:77853046T>G	ENST00000544440.2	-	4	498	c.481A>C	c.(481-483)Att>Ctt	p.I161L	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000407578.2_Splice_Site_p.I199L|MYCBP2_ENST00000357337.6_Splice_Site_p.I161L					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)		ACCTCAATAATCTATTTAAAA	0.358																																																0													29	32	31					13																	77853046		2203	4299	6502	SO:0001630	splice_region_variant	23077			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"MYC binding protein 2"			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.481-1A>C	chr13.hg19:g.77853046T>G				Missense_Mutation	SNP	ENST00000544440.2	hg19		.	.	.	.	.	.	.	.	.	.	T	18.82	3.704169	0.68615	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.33654	1.41;1.4;1.41	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.49864	0.1582	L	0.58810	1.83	0.80722	D	1	P	0.35745	0.518	P	0.47827	0.558	T	0.51325	-0.8720	10	0.72032	D	0.01	.	16.0351	0.80621	0.0:0.0:0.0:1.0	.	161	O75592	MYCB2_HUMAN	L	161;199;161	ENSP00000349892:I161L;ENSP00000384288:I199L;ENSP00000444596:I161L	ENSP00000349892:I161L	I	-	1	0	MYCBP2	76751047	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	8.040000	0.89188	2.186000	0.69663	0.533000	0.62120	ATT		0.358	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057	Missense_Mutation	G	77853046	T	G	77853046	5	3	794	1	0	0	0	0	0	0	1	0	10020	1449	50	5	13761	5	MYCBP2	13	77853046	Splice_Site	SNP	T	TCGA-SX-A7SR-01A-12D-A35Z-10	25122759	77853046	37316832	55	47309											
TEP1	7011	hgsc.bcm.edu	37	14	20839416	20839416	+	Frame_Shift_Del	DEL	A	A	-			TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr14:20839416delA	ENST00000262715.5	-	51	7318	c.7278delT	c.(7276-7278)tttfs	p.F2426fs	TEP1_ENST00000556935.1_Frame_Shift_Del_p.F2318fs	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2426					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)		GCTGCAGGACAAATATGCCAT	0.423																																																0													187	174	178					14																	20839416		2203	4300	6503	SO:0001589	frameshift_variant	7011				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"WD repeat domain containing"	11726	protein-coding gene	gene with protein product	"TROVE domain family, member 1"	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.7278delT	chr14.hg19:g.20839416delA	ENSP00000262715:p.Phe2426fs		A0AUV9	Frame_Shift_Del	DEL	ENST00000262715.5	hg19	CCDS9548.1																																																																																				0.423	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		-	20839416	A	-	20839416	7	5	794	1	0	1	0	1	0	0	0	0	15764	127	5	0	625	0	TEP1	14	20839416	Frame_Shift_Del	DEL	A	TCGA-SX-A7SR-01A-12D-A35Z-10		20839416	86510124	56	47310											
ATL1	51062	hgsc.bcm.edu	37	14	51081222	51081222	+	Missense_Mutation	SNP	A	A	T			TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr14:51081222A>T	ENST00000358385.6	+	8	1096	c.855A>T	c.(853-855)aaA>aaT	p.K285N	ATL1_ENST00000354525.4_Missense_Mutation_p.K285N|ATL1_ENST00000441560.2_Missense_Mutation_p.K285N|ATL1_ENST00000357032.3_Missense_Mutation_p.K285N	NM_015915.4	NP_056999.2	Q8WXF7	ATLA1_HUMAN	atlastin GTPase 1	285	GB1/RHD3-type G.				axonogenesis (GO:0007409)|cell death (GO:0008219)|endoplasmic reticulum organization (GO:0007029)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi cis cisterna (GO:0000137)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						TTGATGGAAAATTGAAAGGTT	0.338																																																0													94	85	88					14																	51081222		2203	4300	6503	SO:0001583	missense	51062			AF131801	CCDS9700.1, CCDS32077.1	14q21.3	2014-09-17	2008-09-17	2008-09-17	ENSG00000198513	ENSG00000198513			11231	protein-coding gene	gene with protein product	"atlastin"	606439	"spastic paraplegia 3A (autosomal dominant)"	SPG3, SPG3A		8252041, 7825576	Standard	NM_015915		Approved	FSP1, AD-FSP	uc001wyd.4	Q8WXF7	OTTHUMG00000140297	ENST00000358385.6:c.855A>T	chr14.hg19:g.51081222A>T	ENSP00000351155:p.Lys285Asn		A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0	Missense_Mutation	SNP	ENST00000358385.6	hg19	CCDS9700.1	.	.	.	.	.	.	.	.	.	.	A	6.428	0.447080	0.12223	.	.	ENSG00000198513	ENST00000441560;ENST00000358385;ENST00000357032;ENST00000354525	D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44	5.63	3.28	0.37604	Guanylate-binding protein, N-terminal (1);	0.041939	0.85682	D	0.000000	T	0.81039	0.4740	L	0.29908	0.895	0.43364	D	0.995448	B;B	0.23806	0.068;0.091	B;B	0.20767	0.031;0.018	T	0.73161	-0.4070	10	0.44086	T	0.13	-19.0005	9.245	0.37520	0.7855:0.0:0.2145:0.0	.	285;285	Q8WXF7;G5E9T1	ATLA1_HUMAN;.	N	285	ENSP00000413675:K285N;ENSP00000351155:K285N;ENSP00000349534:K285N;ENSP00000346522:K285N	ENSP00000346522:K285N	K	+	3	2	ATL1	50150972	1.000000	0.71417	0.761000	0.31378	0.056000	0.15407	1.929000	0.40114	0.502000	0.28037	0.460000	0.39030	AAA		0.338	ATL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276884.2			T	51081222	A	T	51081222	3	4	794	1	0	0	0	0	1	0	0	0	1106	98	4	5	885	5	ATL1	14	51081222	Missense_Mutation	SNP	A	TCGA-SX-A7SR-01A-12D-A35Z-10	30241806	51081222	56268318	57	47311											
GNPNAT1	64841	hgsc.bcm.edu	37	14	53248584	53248584	+	Missense_Mutation	SNP	A	A	T			TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr14:53248584A>T	ENST00000216410.3	-	4	450	c.263T>A	c.(262-264)gTt>gAt	p.V88D	GNPNAT1_ENST00000554230.1_Missense_Mutation_p.V17D	NM_198066.3	NP_932332.1	Q96EK6	GNA1_HUMAN	glucosamine-phosphate N-acetyltransferase 1	88	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)	p.K80fs*17(1)		liver(1)|lung(1)|prostate(1)|skin(1)	4	Breast(41;0.176)					ATCTTCTACAACTGTAACATA	0.353																																																1	Deletion - Frameshift(1)	liver(1)											98	99	99					14																	53248584		2203	4300	6503	SO:0001583	missense	64841			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.263T>A	chr14.hg19:g.53248584A>T	ENSP00000216410:p.Val88Asp			Missense_Mutation	SNP	ENST00000216410.3	hg19	CCDS9712.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.651373	0.88056	.	.	ENSG00000100522	ENST00000216410;ENST00000554230;ENST00000557604	.	.	.	5.52	5.52	0.82312	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	D	0.000000	D	0.87192	0.6116	H	0.95611	3.695	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.91052	0.4879	9	0.87932	D	0	-13.8082	15.9507	0.79835	1.0:0.0:0.0:0.0	.	88	Q96EK6	GNA1_HUMAN	D	88;17;88	.	ENSP00000216410:V88D	V	-	2	0	GNPNAT1	52318334	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.877000	0.92386	2.232000	0.73038	0.528000	0.53228	GTT		0.353	GNPNAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276898.1			T	53248584	A	T	53248584	3	4	794	1	0	0	0	0	1	0	0	0	6546	43	2	5	303	5	GNPNAT1	14	53248584	Missense_Mutation	SNP	A	TCGA-SX-A7SR-01A-12D-A35Z-10	2167362	53248584	54100956	58	47312											
PTPN21	11099	hgsc.bcm.edu	37	14	88945296	88945296	+	Nonsense_Mutation	SNP	T	T	A			TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr14:88945296T>A	ENST00000556564.1	-	13	2763	c.2479A>T	c.(2479-2481)Aag>Tag	p.K827*	PTPN21_ENST00000328736.3_Nonsense_Mutation_p.K827*	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	827					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						ACGATGTTCTTCTTCCCAGAG	0.652																																																0													44	51	48					14																	88945296		2203	4300	6503	SO:0001587	stop_gained	11099			X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.2479A>T	chr14.hg19:g.88945296T>A	ENSP00000452414:p.Lys827*			Nonsense_Mutation	SNP	ENST00000556564.1	hg19	CCDS9884.1	.	.	.	.	.	.	.	.	.	.	T	40	8.015674	0.98610	.	.	ENSG00000070778	ENST00000328736;ENST00000556564	.	.	.	5.42	5.42	0.78866	.	0.292618	0.36591	N	0.002511	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.4652	0.75394	0.0:0.0:0.0:1.0	.	.	.	.	X	827	.	ENSP00000330276:K827X	K	-	1	0	PTPN21	88015049	1.000000	0.71417	0.861000	0.33841	0.222000	0.24845	4.961000	0.63681	2.057000	0.61298	0.460000	0.39030	AAG		0.652	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			A	88945296	T	A	88945296	4	1	794	1	0	0	0	0	0	1	0	0	12792	1792	62	5	1073	5	PTPN21	14	88945296	Nonsense_Mutation	SNP	T	TCGA-SX-A7SR-01A-12D-A35Z-10	35696712	88945296	18404244	59	47313											
MTA1	9112	hgsc.bcm.edu	37	14	105930891	105930891	+	Missense_Mutation	SNP	A	A	T			TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr14:105930891A>T	ENST00000331320.7	+	14	1545	c.1331A>T	c.(1330-1332)aAc>aTc	p.N444I	MTA1_ENST00000435036.2_5'UTR|MTA1_ENST00000406191.1_Missense_Mutation_p.N444I|MTA1_ENST00000405646.1_Missense_Mutation_p.N427I	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	444					circadian regulation of gene expression (GO:0032922)|double-strand break repair (GO:0006302)|entrainment of circadian clock by photoperiod (GO:0043153)|locomotor rhythm (GO:0045475)|positive regulation of protein autoubiquitination (GO:1902499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression, epigenetic (GO:0040029)|regulation of inflammatory response (GO:0050727)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|secretory granule organization (GO:0033363)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|microtubule (GO:0005874)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		CCAGGACCAAACCGCAGTAAC	0.597																																																0													52	53	53					14																	105930891		2202	4300	6502	SO:0001583	missense	9112			U35113	CCDS32169.1, CCDS55954.1	14q32.33	2013-01-25			ENSG00000182979	ENSG00000182979		"GATA zinc finger domain containing"	7410	protein-coding gene	gene with protein product		603526				8083195, 7607577	Standard	NM_004689		Approved		uc001yqx.3	Q13330	OTTHUMG00000150362	ENST00000331320.7:c.1331A>T	chr14.hg19:g.105930891A>T	ENSP00000333633:p.Asn444Ile		A5PLK4|Q86SW2|Q8NFI8|Q96GI8	Missense_Mutation	SNP	ENST00000331320.7	hg19	CCDS32169.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.561353	0.86335	.	.	ENSG00000182979	ENST00000414153;ENST00000331320;ENST00000406191;ENST00000405646;ENST00000434050;ENST00000550551	T;T;T;T	0.32515	1.46;1.46;1.45;1.45	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.50718	0.1632	.	.	.	0.80722	D	1	D;P	0.76494	0.999;0.527	D;B	0.67103	0.949;0.157	T	0.47156	-0.9139	9	0.34782	T	0.22	-41.8187	13.862	0.63566	1.0:0.0:0.0:0.0	.	236;444	Q59FW1;Q13330	.;MTA1_HUMAN	I	353;444;444;427;236;33	ENSP00000333633:N444I;ENSP00000385702:N444I;ENSP00000384180:N427I;ENSP00000394106:N236I	ENSP00000333633:N444I	N	+	2	0	MTA1	105001936	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.331000	0.59273	1.978000	0.57642	0.379000	0.24179	AAC		0.597	MTA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317849.15			T	105930891	A	T	105930891	3	4	794	1	0	0	0	0	1	0	0	0	9910	43	2	5	1385	5	MTA1	14	105930891	Missense_Mutation	SNP	A	TCGA-SX-A7SR-01A-12D-A35Z-10	16985595	105930891	1418649	60	47314											
TEX9	374618	hgsc.bcm.edu	37	15	56686971	56686972	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	TT	TT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr15:56686971_56686972delTT	ENST00000352903.2	+	9	791_792	c.767_768delTT	c.(766-768)cttfs	p.L256fs	TEX9_ENST00000558083.2_Frame_Shift_Del_p.L181fs|TEX9_ENST00000560582.1_Frame_Shift_Del_p.L12fs|RP11-48G14.2_ENST00000564401.1_lincRNA|TEX9_ENST00000561221.2_Frame_Shift_Del_p.L256fs|TEX9_ENST00000537232.1_Frame_Shift_Del_p.L181fs	NM_198524.1	NP_940926.1	Q8N6V9	TEX9_HUMAN	testis expressed 9	256										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)		TACAAAACTCTTTTCGAAGAAG	0.307																																																0																																										SO:0001589	frameshift_variant	374618			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.767_768delTT	chr15.hg19:g.56686973_56686974delTT	ENSP00000342169:p.Leu256fs		B4DH73	Frame_Shift_Del	DEL	ENST00000352903.2	hg19	CCDS10157.1																																																																																				0.307	TEX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255048.2	NM_198524		-	56686972	TT	-	56686971	7	5	794	1	0	1	0	1	0	0	0	0	15789	1609	56	0	801	0	TEX9	15	56686971	Frame_Shift_Del	DEL	TT	TCGA-SX-A7SR-01A-12D-A35Z-10		56686971	45844421	61	47315											
RASGRF1	5923	hgsc.bcm.edu	37	15	79339110	79339110	+	Missense_Mutation	SNP	C	C	T			TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr15:79339110C>T	ENST00000419573.3	-	5	1130	c.856G>A	c.(856-858)Gtc>Atc	p.V286I	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.V286I	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	286	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				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						ATGCTGCTGACGTCGTCGTGT	0.577																																																0													193	152	166					15																	79339110		2196	4293	6489	SO:0001583	missense	5923			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.856G>A	chr15.hg19:g.79339110C>T	ENSP00000405963:p.Val286Ile		F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	ENST00000419573.3	hg19	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.092158	0.76756	.	.	ENSG00000058335	ENST00000419573;ENST00000394741	T	0.60797	0.16	4.03	4.03	0.46877	Dbl homology (DH) domain (5);	0.083759	0.48767	D	0.000176	T	0.45196	0.1330	N	0.20328	0.56	0.80722	D	1	P;P;P;P	0.44776	0.843;0.843;0.743;0.698	B;B;B;B	0.44108	0.408;0.441;0.441;0.314	T	0.39143	-0.9628	10	0.30078	T	0.28	.	13.7003	0.62604	0.0:1.0:0.0:0.0	.	286;286;286;286	A8K270;Q8IUU5;Q13972;F8VPA5	.;.;RGRF1_HUMAN;.	I	286	ENSP00000405963:V286I	ENSP00000378224:V286I	V	-	1	0	RASGRF1	77126165	1.000000	0.71417	0.964000	0.40570	0.736000	0.42039	7.434000	0.80377	2.072000	0.62099	0.655000	0.94253	GTC		0.577	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		T	79339110	C	T	79339110	3	4	794	1	0	0	0	0	1	0	0	0	13078	536	19	1	3061	1	RASGRF1	15	79339110	Missense_Mutation	SNP	C	TCGA-SX-A7SR-01A-12D-A35Z-10	22652139	79339110	23192282	62	47316											
SPATA8	145946	hgsc.bcm.edu	37	15	97328262	97328262	+	Frame_Shift_Del	DEL	A	A	-			TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr15:97328262delA	ENST00000328504.3	+	3	500	c.233delA	c.(232-234)caafs	p.Q78fs	SPATA8_ENST00000558553.1_Frame_Shift_Del_p.S37fs|SPATA8-AS1_ENST00000558722.1_RNA	NM_173499.3	NP_775770.1	Q6RVD6	SPAT8_HUMAN	spermatogenesis associated 8	78										large_intestine(4)|lung(8)|ovary(1)|skin(3)	16	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			CAAAGGGTTCAAAGGCGAAGG	0.443																																																0													159	147	151					15																	97328262		2197	4298	6495	SO:0001589	frameshift_variant	145946			AY489187	CCDS10376.1	15q26	2008-02-05			ENSG00000185594	ENSG00000185594			28676	protein-coding gene	gene with protein product		613948					Standard	NM_173499		Approved	MGC44294	uc002bue.3	Q6RVD6	OTTHUMG00000149847	ENST00000328504.3:c.233delA	chr15.hg19:g.97328262delA	ENSP00000328149:p.Gln78fs		Q2KJ07	Frame_Shift_Del	DEL	ENST00000328504.3	hg19	CCDS10376.1																																																																																				0.443	SPATA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313533.1	NM_173499		-	97328262	A	-	97328262	7	5	794	1	0	1	0	1	0	0	0	0	15020	130	5	0	243	0	SPATA8	15	97328262	Frame_Shift_Del	DEL	A	TCGA-SX-A7SR-01A-12D-A35Z-10	17989152	97328262	5203130	63	47317											
LASS3	204219	hgsc.bcm.edu	37	15	100943017	100943018	+	Frame_Shift_Ins	INS	-	-	T	rs541833197	byFrequency	TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr15:100943017_100943018insT	ENST00000394113.1	-	14	1742_1743	c.1052_1053insA	c.(1051-1053)gagfs	p.E351fs	RP11-168G16.2_ENST00000560718.1_RNA|RP11-168G16.2_ENST00000560643.1_RNA|CERS3_ENST00000284382.4_Frame_Shift_Ins_p.E351fs|CERS3_ENST00000560944.1_5'UTR|CERS3_ENST00000538112.2_Frame_Shift_Ins_p.E351fs			Q8IU89	CERS3_HUMAN	ceramide synthase 3	351	Poly-Glu.				ceramide biosynthetic process (GO:0046513)|keratinocyte differentiation (GO:0030216)|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)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)	p.E351E(1)									cttcttcttcctcttcctcttc	0.485																																																1	Substitution - coding silent(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	204219				CCDS10384.1	15q26.3	2012-11-19	2011-07-08	2011-07-08	ENSG00000154227	ENSG00000154227		"Homeoboxes / CERS class"	23752	protein-coding gene	gene with protein product		615276	"LAG1 longevity assurance homolog 3 (S. cerevisiae)", "LAG1 homolog, ceramide synthase 3"	LASS3			Standard	NM_178842		Approved	MGC27091	uc002bwb.3	Q8IU89	OTTHUMG00000172568	ENST00000394113.1:c.1053dupA	chr15.hg19:g.100943018_100943018dupT	ENSP00000377672:p.Glu351fs		Q8NE64|Q8NEN6	Frame_Shift_Ins	INS	ENST00000394113.1	hg19	CCDS10384.1																																																																																				0.485	CERS3-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313594.4	NM_178842		T	100943018	-	T	100943017	7	5	794	1	0	1	1	0	0	0	0	0	8642	680	24	0	102	0	LASS3	15	100943017	Frame_Shift_Ins	INS	-	TCGA-SX-A7SR-01A-12D-A35Z-10	3614755	100943017	1588375	64	47318											
LRRK1	79705	hgsc.bcm.edu	37	15	101550745	101550745	+	Frame_Shift_Del	DEL	A	A	-			TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr15:101550745delA	ENST00000388948.3	+	8	1439	c.1080delA	c.(1078-1080)tcafs	p.S360fs	LRRK1_ENST00000284395.5_Frame_Shift_Del_p.S357fs	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)			TGACAGCTTCAAAAAATTGTT	0.368																																																0													64	62	62					15																	101550745		1808	4077	5885	SO:0001589	frameshift_variant	79705			AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.1080delA	chr15.hg19:g.101550745delA	ENSP00000373600:p.Ser360fs			Frame_Shift_Del	DEL	ENST00000388948.3	hg19	CCDS42086.1																																																																																				0.368	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		-	101550745	A	-	101550745	7	5	794	1	0	1	0	1	0	0	0	0	9034	117	5	0	1106	0	LRRK1	15	101550745	Frame_Shift_Del	DEL	A	TCGA-SX-A7SR-01A-12D-A35Z-10	607728	101550745	980647	65	47319											
CHD9	80205	hgsc.bcm.edu	37	16	53301317	53301317	+	Missense_Mutation	SNP	C	C	G			TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr16:53301317C>G	ENST00000398510.3	+	20	4519	c.4432C>G	c.(4432-4434)Ccc>Gcc	p.P1478A	CHD9_ENST00000564845.1_Missense_Mutation_p.P1478A|CHD9_ENST00000566029.1_Missense_Mutation_p.P1478A|CHD9_ENST00000447540.1_Missense_Mutation_p.P1478A			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1478					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)				AGATGAAAAGCCCAAACTCCG	0.398																																																0													129	124	126					16																	53301317		1860	4104	5964	SO:0001583	missense	80205			AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.4432C>G	chr16.hg19:g.53301317C>G	ENSP00000381522:p.Pro1478Ala		B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	hg19		.	.	.	.	.	.	.	.	.	.	C	23.5	4.426732	0.83667	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000219084	D;D	0.85556	-2.0;-2.0	5.1	4.15	0.48705	.	0.222920	0.31461	N	0.007614	D	0.90892	0.7138	M	0.78223	2.4	0.58432	D	0.999999	P;D;D;D	0.64830	0.63;0.984;0.99;0.994	P;D;P;P	0.63703	0.459;0.917;0.76;0.879	D	0.91002	0.4843	10	0.48119	T	0.1	-1.7269	13.907	0.63843	0.0:0.926:0.0:0.074	.	1004;1478;1478;1478	B4DR07;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	A	1478;1478;1004	ENSP00000396345:P1478A;ENSP00000381522:P1478A	ENSP00000219084:P1004A	P	+	1	0	CHD9	51858818	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	6.005000	0.70716	1.285000	0.44548	0.650000	0.86243	CCC		0.398	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		G	53301317	C	G	53301317	3	3	794	1	0	0	0	0	1	0	0	0	3334	739	26	4	4510	4	CHD9	16	53301317	Missense_Mutation	SNP	C	TCGA-SX-A7SR-01A-12D-A35Z-10		53301317	37053436	66	47320											
CCDC135	84229	hgsc.bcm.edu	37	16	57735929	57735929	+	Missense_Mutation	SNP	A	A	T			TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr16:57735929A>T	ENST00000360716.3	+	6	807	c.586A>T	c.(586-588)Atg>Ttg	p.M196L	CCDC135_ENST00000394337.4_Missense_Mutation_p.M196L|CCDC135_ENST00000336825.8_Intron|RP11-405F3.4_ENST00000563062.1_RNA			Q8IY82	CC135_HUMAN		196					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						GCTCTGCTCCATGCTTATCGG	0.587																																																0													181	137	152					16																	57735929		2198	4300	6498	SO:0001583	missense	84229																														ENST00000360716.3:c.586A>T	chr16.hg19:g.57735929A>T	ENSP00000353942:p.Met196Leu		A8K943|Q8NAA0|Q9H080	Missense_Mutation	SNP	ENST00000360716.3	hg19	CCDS10787.1	.	.	.	.	.	.	.	.	.	.	A	1.504	-0.551352	0.03996	.	.	ENSG00000159625	ENST00000394337;ENST00000360716	T;T	0.14893	2.47;2.47	5.09	0.938	0.19500	.	0.352176	0.30252	N	0.010045	T	0.05731	0.0150	N	0.05177	-0.1	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37126	-0.9719	10	0.02654	T	1	-29.2494	8.5455	0.33419	0.4764:0.4138:0.0:0.1098	.	196	Q8IY82	CC135_HUMAN	L	196	ENSP00000377869:M196L;ENSP00000353942:M196L	ENSP00000353942:M196L	M	+	1	0	CCDC135	56293430	0.683000	0.27633	1.000000	0.80357	0.483000	0.33249	-0.062000	0.11674	0.743000	0.32719	0.366000	0.22137	ATG		0.587	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			T	57735929	A	T	57735929	3	4	794	1	0	0	0	0	1	0	0	0	2771	217	8	5	600	5	CCDC135	16	57735929	Missense_Mutation	SNP	A	TCGA-SX-A7SR-01A-12D-A35Z-10	4434612	57735929	32618824	67	47321											
SGSM2	9905	hgsc.bcm.edu	37	17	2274584	2274584	+	Silent	SNP	C	C	A			TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr17:2274584C>A	ENST00000426855.2	+	12	1492	c.1317C>A	c.(1315-1317)ggC>ggA	p.G439G	SGSM2_ENST00000268989.3_Silent_p.G484G|SGSM2_ENST00000574563.1_Silent_p.G439G	NM_001098509.1	NP_001091979.1	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	439					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)		AGATGCAGGGCTTTGGGCCCA	0.662																																																0													31	29	30					17																	2274584		2201	4298	6499	SO:0001819	synonymous_variant	9905			BC039204	CCDS32526.1, CCDS45570.1	17p13.3	2013-07-10	2007-08-14	2007-08-14		ENSG00000141258		"Small G protein signaling modulators"	29026	protein-coding gene	gene with protein product		611418	"RUN and TBC1 domain containing 1"	RUTBC1		9455477, 17509819, 21808068	Standard	NM_014853		Approved	KIAA0397	uc002fum.4	O43147		ENST00000426855.2:c.1317C>A	chr17.hg19:g.2274584C>A			A5LGW2|B4DH69|Q49AC2|Q6ZUY2|Q8IXU4	Silent	SNP	ENST00000426855.2	hg19	CCDS45570.1																																																																																				0.662	SGSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438186.1	NM_014853		A	2274584	C	A	2274584	2	1	794	1	0	0	0	0	0	0	0	1	14229	784	28	4		4	SGSM2	17	2274584	Silent	SNP	C	TCGA-SX-A7SR-01A-12D-A35Z-10		2274584	78920626	68	47322											
CYB5D2	124936	hgsc.bcm.edu	37	17	4060165	4060165	+	Missense_Mutation	SNP	G	G	T			TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr17:4060165G>T	ENST00000301391.3	+	4	1084	c.584G>T	c.(583-585)gGt>gTt	p.G195V	CYB5D2_ENST00000573984.1_Intron|CYB5D2_ENST00000575251.1_Missense_Mutation_p.G83V|CYB5D2_ENST00000575411.2_3'UTR	NM_144611.3	NP_653212.1	Q8WUJ1	NEUFC_HUMAN	cytochrome b5 domain containing 2	195					nervous system development (GO:0007399)	extracellular region (GO:0005576)	heme binding (GO:0020037)			breast(1)|large_intestine(3)|liver(2)|ovary(1)	7						CTTAGTGGAGGTGTGAGCAGA	0.557											OREG0024097	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													48	44	46					17																	4060165		2203	4300	6503	SO:0001583	missense	124936			AK172844	CCDS11044.1, CCDS58501.1	17p13.2	2006-03-10							28471	protein-coding gene	gene with protein product							Standard	NM_144611		Approved	MGC32124	uc002fxm.4	Q8WUJ1		ENST00000301391.3:c.584G>T	chr17.hg19:g.4060165G>T	ENSP00000301391:p.Gly195Val	615	B2R7R6|D3DTJ9|I3L1K2	Missense_Mutation	SNP	ENST00000301391.3	hg19	CCDS11044.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.094421	0.56075	.	.	ENSG00000167740	ENST00000301391	T	0.80824	-1.42	4.95	4.95	0.65309	.	0.110364	0.64402	D	0.000009	D	0.91462	0.7305	M	0.90483	3.12	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.93098	0.6506	10	0.87932	D	0	-17.1409	16.9081	0.86133	0.0:0.0:1.0:0.0	.	195	Q8WUJ1	NEUFC_HUMAN	V	195	ENSP00000301391:G195V	ENSP00000301391:G195V	G	+	2	0	CYB5D2	4006914	1.000000	0.71417	1.000000	0.80357	0.155000	0.21991	7.025000	0.76449	2.563000	0.86464	0.561000	0.74099	GGT		0.557	CYB5D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438698.1	NM_144611		T	4060165	G	T	4060165	3	4	794	1	0	0	0	0	1	0	0	0	4127	1261	44	4	598	4	CYB5D2	17	4060165	Missense_Mutation	SNP	G	TCGA-SX-A7SR-01A-12D-A35Z-10	1785581	4060165	77135045	69	47323			1	130		2	2	26	N	G_C	7.187193e-05
CYB5D2	124936	hgsc.bcm.edu	37	17	4060190	4060190	+	Silent	SNP	C	C	T			TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr17:4060190C>T	ENST00000301391.3	+	4	1109	c.609C>T	c.(607-609)gtC>gtT	p.V203V	CYB5D2_ENST00000573984.1_Intron|CYB5D2_ENST00000575251.1_Silent_p.V91V|CYB5D2_ENST00000575411.2_3'UTR	NM_144611.3	NP_653212.1	Q8WUJ1	NEUFC_HUMAN	cytochrome b5 domain containing 2	203					nervous system development (GO:0007399)	extracellular region (GO:0005576)	heme binding (GO:0020037)			breast(1)|large_intestine(3)|liver(2)|ovary(1)	7						GGATTGGCGTCCCCAGGAAGC	0.567											OREG0024097	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													56	51	53					17																	4060190		2203	4300	6503	SO:0001819	synonymous_variant	124936			AK172844	CCDS11044.1, CCDS58501.1	17p13.2	2006-03-10							28471	protein-coding gene	gene with protein product							Standard	NM_144611		Approved	MGC32124	uc002fxm.4	Q8WUJ1		ENST00000301391.3:c.609C>T	chr17.hg19:g.4060190C>T		615	B2R7R6|D3DTJ9|I3L1K2	Silent	SNP	ENST00000301391.3	hg19	CCDS11044.1																																																																																				0.567	CYB5D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438698.1	NM_144611		T	4060190	C	T	4060190	2	4	794	1	0	0	0	0	0	0	0	1	4127	842	30	2		2	CYB5D2	17	4060190	Silent	SNP	C	TCGA-SX-A7SR-01A-12D-A35Z-10	25	4060190	77135020	70	47324			1	130		2	2	26	N	G_C	7.187193e-05
ULK2	9706	hgsc.bcm.edu	37	17	19720216	19720216	+	Silent	SNP	C	C	T			TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr17:19720216C>T	ENST00000395544.4	-	13	1441	c.942G>A	c.(940-942)caG>caA	p.Q314Q	ULK2_ENST00000361658.2_Silent_p.Q314Q|ULK2_ENST00000580130.1_Intron	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	314					autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|negative regulation of collateral sprouting (GO:0048671)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)|response to starvation (GO:0042594)|signal transduction (GO:0007165)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|pre-autophagosomal structure membrane (GO:0034045)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					CCTGAATATGCTGCATATCTG	0.348																																																0													78	78	78					17																	19720216		2203	4300	6503	SO:0001819	synonymous_variant	9706			AB014523	CCDS11213.1	17p11.2	2014-02-12	2013-07-02		ENSG00000083290	ENSG00000083290	2.7.11.1		13480	protein-coding gene	gene with protein product		608650	"unc-51 (C. elegans)-like kinase 2", "unc-51-like kinase 2 (C. elegans)"			10557072	Standard	NM_014683		Approved	KIAA0623, Unc51.2, ATG1B	uc002gwn.3	Q8IYT8	OTTHUMG00000059511	ENST00000395544.4:c.942G>A	chr17.hg19:g.19720216C>T			A8MY69|O75119	Silent	SNP	ENST00000395544.4	hg19	CCDS11213.1																																																																																				0.348	ULK2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132375.2	NM_014683		T	19720216	C	T	19720216	2	4	794	1	0	0	0	0	0	0	0	1	16981	796	28	2		2	ULK2	17	19720216	Silent	SNP	C	TCGA-SX-A7SR-01A-12D-A35Z-10	15660026	19720216	61474994	71	47325											
EFCAB5	374786	hgsc.bcm.edu	37	17	28418892	28418892	+	Missense_Mutation	SNP	T	T	C			TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr17:28418892T>C	ENST00000394835.3	+	21	4133	c.3941T>C	c.(3940-3942)aTt>aCt	p.I1314T	EFCAB5_ENST00000320856.5_Missense_Mutation_p.I1190T|RP11-1148O4.2_ENST00000582938.1_RNA|EFCAB5_ENST00000394832.2_Intron	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	1314							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						ATTCCAGAGATTGAAAATGTC	0.383																																																0													97	91	93					17																	28418892		1896	4115	6011	SO:0001583	missense	374786			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.3941T>C	chr17.hg19:g.28418892T>C	ENSP00000378312:p.Ile1314Thr		B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	ENST00000394835.3	hg19	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	T	12.19	1.863578	0.32884	.	.	ENSG00000176927	ENST00000394835;ENST00000320856;ENST00000419434	T;T;T	0.11821	2.74;2.75;2.76	5.54	5.54	0.83059	.	0.392046	0.25214	N	0.032292	T	0.20536	0.0494	L	0.60455	1.87	0.80722	D	1	D;P	0.56521	0.976;0.944	P;P	0.51701	0.677;0.546	T	0.01524	-1.1333	10	0.45353	T	0.12	-5.0614	6.6082	0.22737	0.0:0.1706:0.0:0.8294	.	1190;1314	E7EVS9;A4FU69	.;EFCB5_HUMAN	T	1314;1190;996	ENSP00000378312:I1314T;ENSP00000322003:I1190T;ENSP00000417009:I996T	ENSP00000322003:I1190T	I	+	2	0	EFCAB5	25443018	1.000000	0.71417	1.000000	0.80357	0.512000	0.34134	3.543000	0.53633	2.107000	0.64212	0.533000	0.62120	ATT		0.383	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529		C	28418892	T	C	28418892	3	2	794	1	0	0	0	0	1	0	0	0	4940	1493	52	3	4190	3	EFCAB5	17	28418892	Missense_Mutation	SNP	T	TCGA-SX-A7SR-01A-12D-A35Z-10	8698676	28418892	52776318	72	47326											
CRLF3	51379	hgsc.bcm.edu	37	17	29120581	29120581	+	Missense_Mutation	SNP	T	T	A			TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr17:29120581T>A	ENST00000324238.6	-	5	837	c.713A>T	c.(712-714)cAc>cTc	p.H238L	CTD-2349P21.9_ENST00000580085.1_lincRNA|CRLF3_ENST00000544695.1_Missense_Mutation_p.H122L|CRLF3_ENST00000577725.1_Intron	NM_015986.3	NP_057070.3	Q8IUI8	CRLF3_HUMAN	cytokine receptor-like factor 3	238	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)				GGGGTCTATGTGCAATACTAT	0.458																																					Pancreas(30;346 881 29244 33464 41299)											0													104	100	101					17																	29120581		2203	4300	6503	SO:0001583	missense	51379			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.713A>T	chr17.hg19:g.29120581T>A	ENSP00000318804:p.His238Leu		A6NJF3|B2R8C3|Q2MLY7|Q9UNI3|Q9Y6M8	Missense_Mutation	SNP	ENST00000324238.6	hg19	CCDS32607.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.821473	0.90873	.	.	ENSG00000176390	ENST00000324238;ENST00000544695	T;T	0.24151	1.87;1.87	5.64	5.64	0.86602	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.085303	0.85682	D	0.000000	T	0.29783	0.0744	L	0.48642	1.525	0.80722	D	1	P	0.41848	0.763	B	0.42422	0.387	T	0.03945	-1.0990	10	0.62326	D	0.03	-11.32	15.8343	0.78787	0.0:0.0:0.0:1.0	.	238	Q8IUI8	CRLF3_HUMAN	L	238;122	ENSP00000318804:H238L;ENSP00000444188:H122L	ENSP00000318804:H238L	H	-	2	0	CRLF3	26144707	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.631000	0.83237	2.150000	0.67090	0.482000	0.46254	CAC		0.458	CRLF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444354.1			A	29120581	T	A	29120581	3	1	794	1	0	0	0	0	1	0	0	0	3890	1696	59	5	631	5	CRLF3	17	29120581	Missense_Mutation	SNP	T	TCGA-SX-A7SR-01A-12D-A35Z-10	701689	29120581	52074629	73	47327											
SCRN2	90507	hgsc.bcm.edu	37	17	45916327	45916327	+	Missense_Mutation	SNP	A	A	G			TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr17:45916327A>G	ENST00000290216.9	-	5	727	c.602T>C	c.(601-603)aTc>aCc	p.I201T	SCRN2_ENST00000584123.1_Missense_Mutation_p.I209T|SCRN2_ENST00000407215.3_Missense_Mutation_p.I201T	NM_001145023.1|NM_138355.3	NP_001138495.1|NP_612364.2	Q96FV2	SCRN2_HUMAN	secernin 2	201						extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						TTGGGCCGAGATGTCCGTGCC	0.587																																																0													84	88	87					17																	45916327		2203	4300	6503	SO:0001583	missense	90507			BC002980	CCDS11519.1, CCDS45723.1	17q21	2008-02-05							30381	protein-coding gene	gene with protein product		614966				12221138	Standard	NM_001145023		Approved		uc002imd.3	Q96FV2		ENST00000290216.9:c.602T>C	chr17.hg19:g.45916327A>G	ENSP00000290216:p.Ile201Thr		A8K3N1|B7Z8S7|E9PBV5|Q96AC3|Q9BU04	Missense_Mutation	SNP	ENST00000290216.9	hg19	CCDS11519.1	.	.	.	.	.	.	.	.	.	.	A	15.65	2.895935	0.52121	.	.	ENSG00000141295	ENST00000290216;ENST00000407215	T;T	0.22743	1.94;1.94	5.52	5.52	0.82312	.	0.204208	0.50627	D	0.000110	T	0.37972	0.1023	M	0.90759	3.145	0.51012	D	0.999909	P;P;P	0.36354	0.549;0.549;0.549	B;B;B	0.43413	0.419;0.419;0.419	T	0.36890	-0.9729	10	0.49607	T	0.09	-16.3059	9.1893	0.37189	0.9175:0.0:0.0825:0.0	.	201;201;201	E9PBV5;Q96FV2;B7Z8S7	.;SCRN2_HUMAN;.	T	201	ENSP00000290216:I201T;ENSP00000383935:I201T	ENSP00000290216:I201T	I	-	2	0	SCRN2	43271326	1.000000	0.71417	1.000000	0.80357	0.148000	0.21650	7.472000	0.80996	2.091000	0.63221	0.533000	0.62120	ATC		0.587	SCRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441383.1	NM_138355		G	45916327	A	G	45916327	3	3	794	1	0	0	0	0	1	0	0	0	13945	333	12	3	709	3	SCRN2	17	45916327	Missense_Mutation	SNP	A	TCGA-SX-A7SR-01A-12D-A35Z-10	16795746	45916327	35278883	74	47328											
CACNA1G	8913	hgsc.bcm.edu	37	17	48674235	48674235	+	Missense_Mutation	SNP	G	G	T			TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr17:48674235G>T	ENST00000359106.5	+	16	3209	c.3209G>T	c.(3208-3210)aGc>aTc	p.S1070I	CACNA1G_ENST00000502264.1_Missense_Mutation_p.S1047I|CACNA1G_ENST00000503485.1_Missense_Mutation_p.S1070I|CACNA1G_ENST00000360761.4_Missense_Mutation_p.S1047I|CACNA1G_ENST00000515165.1_Missense_Mutation_p.S1070I|CACNA1G_ENST00000352832.5_Missense_Mutation_p.S1047I|CACNA1G_ENST00000510115.1_Missense_Mutation_p.S1047I|CACNA1G_ENST00000515765.1_Missense_Mutation_p.S1070I|CACNA1G_ENST00000505165.1_Missense_Mutation_p.S1070I|CACNA1G_ENST00000507896.1_Missense_Mutation_p.S1070I|CACNA1G_ENST00000358244.5_Missense_Mutation_p.S1047I|CACNA1G_ENST00000416767.4_Missense_Mutation_p.S1070I|CACNA1G_ENST00000510366.1_Missense_Mutation_p.S1070I|CACNA1G_ENST00000515411.1_Missense_Mutation_p.S1070I|CACNA1G_ENST00000514717.1_Missense_Mutation_p.S1047I|CACNA1G_ENST00000514181.1_Missense_Mutation_p.S1070I|CACNA1G_ENST00000514079.1_Missense_Mutation_p.S1070I|CACNA1G_ENST00000512389.1_Missense_Mutation_p.S1070I|CACNA1G_ENST00000513964.1_Missense_Mutation_p.S1070I|CACNA1G_ENST00000507609.1_Missense_Mutation_p.S1070I|CACNA1G_ENST00000442258.2_Missense_Mutation_p.S1047I|CACNA1G_ENST00000513689.2_Missense_Mutation_p.S1070I|CACNA1G_ENST00000429973.2_Missense_Mutation_p.S1070I|CACNA1G_ENST00000507336.1_Missense_Mutation_p.S1070I|CACNA1G_ENST00000354983.4_Missense_Mutation_p.S1047I|CACNA1G_ENST00000507510.2_Missense_Mutation_p.S1070I	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1070					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)	CGCCGCACCAGCAGCAGCGGG	0.687																																																0													6	7	7					17																	48674235		1921	4043	5964	SO:0001583	missense	8913			AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.3209G>T	chr17.hg19:g.48674235G>T	ENSP00000352011:p.Ser1070Ile		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	hg19	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	g	18.51	3.639706	0.67244	.	.	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	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	0.97209	-4.13;-4.12;-4.29;-4.07;-4.1;-4.11;-4.15;-4.22;-4.19;-4.2;-4.22;-4.09;-4.11;-4.16;-4.11;-4.05;-4.15;-4.1;-4.09;-4.15;-4.11;-4.11;-4.14;-4.08;-4.15;-4.14	4.87	4.87	0.63330	.	0.478379	0.24303	N	0.039707	D	0.97284	0.9112	L	0.45137	1.4	0.38458	D	0.947139	P;B;P;B;B;P;P;B;P;P;P;B;B;D;P;B;B;P;B;P;B;B;B;B;D;P	0.61697	0.498;0.084;0.722;0.399;0.356;0.822;0.549;0.228;0.549;0.871;0.579;0.313;0.356;0.975;0.722;0.019;0.356;0.933;0.356;0.825;0.437;0.07;0.351;0.28;0.99;0.488	B;B;B;B;B;B;B;B;B;P;B;B;B;P;B;B;B;P;B;P;B;B;B;B;D;B	0.66497	0.131;0.042;0.282;0.342;0.197;0.227;0.282;0.09;0.19;0.695;0.096;0.272;0.14;0.793;0.227;0.028;0.089;0.668;0.09;0.466;0.098;0.058;0.043;0.065;0.944;0.182	D	0.98346	1.0541	10	0.48119	T	0.1	.	16.2113	0.82164	0.0:0.0:1.0:0.0	.	1047;1070;1070;1070;1070;1070;1070;1070;1070;1070;1070;1047;1070;1070;1070;1070;1070;1047;1070;1047;1047;1047;1047;1070;1047;1070	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;.;.	I	1047;1047;1070;1047;1047;1047;1070;1070;1047;1070;1070;1070;1070;1070;1070;1047;1070;1070;1070;1070;1047;1070;1070;1070;1070;1070	ENSP00000353990:S1047I;ENSP00000339302:S1047I;ENSP00000392390:S1070I;ENSP00000347078:S1047I;ENSP00000409759:S1047I;ENSP00000425522:S1047I;ENSP00000426261:S1070I;ENSP00000425451:S1070I;ENSP00000422407:S1047I;ENSP00000426814:S1070I;ENSP00000427238:S1070I;ENSP00000423112:S1070I;ENSP00000420918:S1070I;ENSP00000426172:S1070I;ENSP00000423045:S1070I;ENSP00000427173:S1047I;ENSP00000426098:S1070I;ENSP00000425698:S1070I;ENSP00000426232:S1070I;ENSP00000423317:S1070I;ENSP00000350979:S1047I;ENSP00000352011:S1070I;ENSP00000414388:S1070I;ENSP00000423155:S1070I;ENSP00000422268:S1070I;ENSP00000421518:S1070I	ENSP00000339302:S1047I	S	+	2	0	CACNA1G	46029234	1.000000	0.71417	1.000000	0.80357	0.354000	0.29330	8.006000	0.88564	2.258000	0.74832	0.561000	0.74099	AGC		0.687	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		T	48674235	G	T	48674235	3	4	794	1	0	0	0	0	1	0	0	0	2546	971	34	4	3271	4	CACNA1G	17	48674235	Missense_Mutation	SNP	G	TCGA-SX-A7SR-01A-12D-A35Z-10	2757908	48674235	32520975	75	47329											
NT5C	30833	hgsc.bcm.edu	37	17	73127154	73127154	+	Missense_Mutation	SNP	A	A	T			TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr17:73127154A>T	ENST00000245552.2	-	3	409	c.322T>A	c.(322-324)Tgt>Agt	p.C108S	NT5C_ENST00000582160.1_Missense_Mutation_p.C22S|NT5C_ENST00000579082.1_5'UTR|NT5C_ENST00000582170.1_Missense_Mutation_p.C108S|NT5C_ENST00000578337.1_Missense_Mutation_p.C22S	NM_014595.2	NP_055410.1	Q8TCD5	NT5C_HUMAN	5', 3'-nucleotidase, cytosolic	108					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)	TCACCCACACAGTGGTGGTAC	0.617																																																0													18	22	21					17																	73127154		2194	4295	6489	SO:0001583	missense	30833			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.322T>A	chr17.hg19:g.73127154A>T	ENSP00000245552:p.Cys108Ser		Q96HS6|Q9NP82	Missense_Mutation	SNP	ENST00000245552.2	hg19	CCDS11715.1	.	.	.	.	.	.	.	.	.	.	A	15.68	2.904872	0.52333	.	.	ENSG00000125458	ENST00000245552	T	0.41065	1.01	5.09	3.99	0.46301	HAD-like domain (2);	0.114961	0.64402	N	0.000010	T	0.53400	0.1794	L	0.47078	1.49	0.41943	D	0.990625	D	0.63880	0.993	D	0.74023	0.982	T	0.53236	-0.8467	10	0.66056	D	0.02	-3.5863	9.0684	0.36478	0.8359:0.0:0.0:0.1641	.	108	Q8TCD5	NT5C_HUMAN	S	108	ENSP00000245552:C108S	ENSP00000245552:C108S	C	-	1	0	NT5C	70638749	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.811000	0.55620	0.769000	0.33313	0.459000	0.35465	TGT		0.617	NT5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445853.1			T	73127154	A	T	73127154	3	4	794	1	0	0	0	0	1	0	0	0	10686	188	7	5	295	5	NT5C	17	73127154	Missense_Mutation	SNP	A	TCGA-SX-A7SR-01A-12D-A35Z-10	24452919	73127154	8068056	76	47330											
LPPR3	79948	hgsc.bcm.edu	37	19	814451	814451	+	Missense_Mutation	SNP	C	C	T			TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr19:814451C>T	ENST00000520876.3	-	7	892	c.814G>A	c.(814-816)Ggc>Agc	p.G272S	MIR3187_ENST00000583431.1_RNA|LPPR3_ENST00000359894.2_Missense_Mutation_p.G300S	NM_001270366.1	NP_001257295.1	Q6T4P5	LPPR3_HUMAN		272						integral component of membrane (GO:0016021)	phosphatidate phosphatase activity (GO:0008195)										GCAGCGATGCCCGCCCCGATG	0.662																																																0													26	27	27					19																	814451		2191	4294	6485	SO:0001583	missense	0																														ENST00000520876.3:c.814G>A	chr19.hg19:g.814451C>T	ENSP00000430297:p.Gly272Ser		Q86XQ4|Q96EH1|Q9BQF9|Q9HAJ4	Missense_Mutation	SNP	ENST00000520876.3	hg19	CCDS58636.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.68|13.68	2.307986|2.307986	0.40895|0.40895	.|.	.|.	ENSG00000129951|ENSG00000129951	ENST00000517665|ENST00000300947;ENST00000359894;ENST00000520876	.|T;T	.|0.74315	.|-0.83;-0.83	4.66|4.66	4.66|4.66	0.58398|0.58398	.|Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.114726|0.114726	0.64402|0.64402	D|D	0.000019|0.000019	T|T	0.72755|0.72755	0.3500|0.3500	L|L	0.35414|0.35414	1.06|1.06	0.40705|0.40705	D|D	0.982513|0.982513	.|B;B;P	.|0.46952	.|0.317;0.368;0.887	.|B;P;P	.|0.49597	.|0.335;0.466;0.616	T|T	0.75056|0.75056	-0.3452|-0.3452	6|10	.|0.42905	.|T	.|0.14	-7.2365|-7.2365	16.5199|16.5199	0.84311|0.84311	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|273;272;300	.|Q6T4P5-2;Q6T4P5;Q6T4P5-3	.|.;LPPR3_HUMAN;.	E|S	60|273;300;272	.|ENSP00000352962:G300S;ENSP00000430297:G272S	.|ENSP00000300947:G273S	G|G	-|-	2|1	0|0	AC006273.1|AC006273.1	765451|765451	0.996000|0.996000	0.38824|0.38824	0.916000|0.916000	0.36221|0.36221	0.143000|0.143000	0.21401|0.21401	3.475000|3.475000	0.53136|0.53136	2.137000|2.137000	0.66172|0.66172	0.555000|0.555000	0.69702|0.69702	GGG|GGC		0.662	LPPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379096.3			T	814451	C	T	814451	3	4	794	1	0	0	0	0	1	0	0	0	8928	623	22	2	1350	2	LPPR3	19	814451	Missense_Mutation	SNP	C	TCGA-SX-A7SR-01A-12D-A35Z-10		814451	58314532	77	47331											
MKNK2	2872	hgsc.bcm.edu	37	19	2041888	2041888	+	Missense_Mutation	SNP	C	C	T			TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr19:2041888C>T	ENST00000591601.1	-	10	931	c.896G>A	c.(895-897)tGt>tAt	p.C299Y	MKNK2_ENST00000250896.3_Missense_Mutation_p.C299Y|MKNK2_ENST00000309340.7_Missense_Mutation_p.C299Y|MKNK2_ENST00000591142.1_Missense_Mutation_p.C43Y|MKNK2_ENST00000541165.1_Missense_Mutation_p.C168Y|MKNK2_ENST00000591588.1_Missense_Mutation_p.C43Y|MKNK2_ENST00000588014.1_Missense_Mutation_p.C43Y			Q9HBH9	MKNK2_HUMAN	MAP kinase interacting serine/threonine kinase 2	299	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)		GTCGCTGCCACAGCGGCCCAC	0.711																																																0													17	15	15					19																	2041888		2031	3979	6010	SO:0001583	missense	2872			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.896G>A	chr19.hg19:g.2041888C>T	ENSP00000467811:p.Cys299Tyr		Q6GPI3|Q9HBH8|Q9UHR0|Q9Y2N6	Missense_Mutation	SNP	ENST00000591601.1	hg19	CCDS12080.1	.	.	.	.	.	.	.	.	.	.	C	19.11	3.763123	0.69763	.	.	ENSG00000099875	ENST00000309340;ENST00000250896;ENST00000541165;ENST00000545627	T;T;T	0.38887	1.11;1.11;1.11	4.12	4.12	0.48240	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	0.46776	0.1410	N	0.12182	0.205	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;0.998;0.998	T	0.57774	-0.7753	10	0.87932	D	0	-4.0557	15.5219	0.75871	0.0:1.0:0.0:0.0	.	104;299;299;201	Q59GN5;Q9HBH9;Q9HBH9-2;Q9NT28	.;MKNK2_HUMAN;.;.	Y	299;299;168;239	ENSP00000309485:C299Y;ENSP00000250896:C299Y;ENSP00000438904:C168Y	ENSP00000250896:C299Y	C	-	2	0	MKNK2	1992888	1.000000	0.71417	0.998000	0.56505	0.263000	0.26337	7.366000	0.79548	2.137000	0.66172	0.555000	0.69702	TGT		0.711	MKNK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449312.1	NM_199054		T	2041888	C	T	2041888	3	4	794	1	0	0	0	0	1	0	0	0	9607	478	17	2	612	2	MKNK2	19	2041888	Missense_Mutation	SNP	C	TCGA-SX-A7SR-01A-12D-A35Z-10	1227437	2041888	57087095	78	47332											
KLK7	5650	hgsc.bcm.edu	37	19	51485606	51485606	+	Missense_Mutation	SNP	G	G	T			TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr19:51485606G>T	ENST00000391807.1	-	2	151	c.50C>A	c.(49-51)gCc>gAc	p.A17D	KLK7_ENST00000595638.1_5'UTR|KLK7_ENST00000597707.1_Intron|CTB-147C22.9_ENST00000594512.1_RNA|KLK7_ENST00000336317.4_5'UTR|KLK7_ENST00000595820.1_Missense_Mutation_p.A17D	NM_139277.2	NP_644806.1	P49862	KLK7_HUMAN	kallikrein-related peptidase 7	17					epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)		AGTTTCCAAGGCTAAGGATAG	0.597																																																0													63	47	53					19																	51485606		2203	4299	6502	SO:0001583	missense	5650			L33404	CCDS12812.1, CCDS59414.1	19q13.33	2011-09-07	2006-10-27			ENSG00000169035		"Kallikreins", "Serine peptidases / Serine peptidases"	6368	protein-coding gene	gene with protein product		604438	"kallikrein 7 (chymotryptic, stratum corneum)"	PRSS6		8034709, 16800724, 16800723	Standard	NM_005046		Approved	SCCE	uc021uyj.1	P49862		ENST00000391807.1:c.50C>A	chr19.hg19:g.51485606G>T	ENSP00000375683:p.Ala17Asp		A8K0U5|Q8N5N9|Q8NFV7	Missense_Mutation	SNP	ENST00000391807.1	hg19	CCDS12812.1	.	.	.	.	.	.	.	.	.	.	g	10.70	1.424474	0.25639	.	.	ENSG00000169035	ENST00000304045;ENST00000391807	D	0.94000	-3.33	3.65	2.61	0.31194	.	.	.	.	.	D	0.92805	0.7712	L	0.49571	1.57	0.30110	N	0.806664	D	0.61080	0.989	P	0.55112	0.769	D	0.88031	0.2775	9	0.62326	D	0.03	.	7.0792	0.25221	0.1278:0.0:0.8722:0.0	.	17	P49862	KLK7_HUMAN	D	17	ENSP00000375683:A17D	ENSP00000304791:A17D	A	-	2	0	KLK7	56177418	0.072000	0.21174	0.114000	0.21550	0.005000	0.04900	0.592000	0.23984	0.893000	0.36288	0.645000	0.84053	GCC		0.597	KLK7-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464344.1	NM_005046		T	51485606	G	T	51485606	3	4	794	1	0	0	0	0	1	0	0	0	8411	1203	42	4	731	4	KLK7	19	51485606	Missense_Mutation	SNP	G	TCGA-SX-A7SR-01A-12D-A35Z-10	49443718	51485606	7643377	79	47333											
EPS8L1	54869	hgsc.bcm.edu	37	19	55591174	55591174	+	Silent	SNP	G	G	A			TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr19:55591174G>A	ENST00000201647.6	+	5	290	c.234G>A	c.(232-234)ctG>ctA	p.L78L	EPS8L1_ENST00000245618.5_5'Flank|EPS8L1_ENST00000592824.1_3'UTR|EPS8L1_ENST00000588359.1_5'Flank|EPS8L1_ENST00000586329.1_Silent_p.L60L|EPS8L1_ENST00000540810.1_Silent_p.L14L	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	78					positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|T cell receptor binding (GO:0042608)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		AGATGCTGCTGCGAGTGTCTC	0.667																																					Ovarian(149;255 1863 3636 27051 29647)											0													89	67	74					19																	55591174		2203	4300	6503	SO:0001819	synonymous_variant	54869			AK057052	CCDS12914.1, CCDS12915.1	19q13.42	2008-02-05				ENSG00000131037			21295	protein-coding gene	gene with protein product		614987				12620401	Standard	NM_133180		Approved	FLJ20258, DRC3, MGC23164, MGC4642	uc002qis.4	Q8TE68		ENST00000201647.6:c.234G>A	chr19.hg19:g.55591174G>A			Q71RE2|Q8NC10|Q96BB7|Q9BSQ2|Q9GZQ2|Q9NXH0	Silent	SNP	ENST00000201647.6	hg19	CCDS12914.1																																																																																				0.667	EPS8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451713.1	NM_017729		A	55591174	G	A	55591174	2	1	794	1	0	0	0	0	0	0	0	1	5197	1306	46	2		2	EPS8L1	19	55591174	Silent	SNP	G	TCGA-SX-A7SR-01A-12D-A35Z-10	4105568	55591174	3537809	80	47334											
NNAT	4826	hgsc.bcm.edu	37	20	36151076	36151076	+	Missense_Mutation	SNP	G	G	T			TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr20:36151076G>T	ENST00000062104.2	+	3	278	c.161G>T	c.(160-162)aGg>aTg	p.R54M	BLCAP_ENST00000373537.2_Intron|BLCAP_ENST00000414542.2_Intron|BLCAP_ENST00000397131.1_Intron|BLCAP_ENST00000397137.1_Intron|BLCAP_ENST00000397134.1_5'Flank|NNAT_ENST00000346199.2_Missense_Mutation_p.R27M|BLCAP_ENST00000397135.1_Intron	NM_005386.2	NP_005377.1	Q16517	NNAT_HUMAN	neuronatin	54					brain development (GO:0007420)|neuron differentiation (GO:0030182)|positive regulation of insulin secretion (GO:0032024)|protein lipoylation (GO:0009249)|regulation of protein localization (GO:0032880)|response to glucose (GO:0009749)|transport (GO:0006810)	cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|lung(1)	3		Myeloproliferative disorder(115;0.00878)				CAGGTGTTCAGGTACTCCCTG	0.687																																																0													59	43	48					20																	36151076		2203	4300	6503	SO:0001583	missense	4826				CCDS13296.1, CCDS13297.1	20q11.2-q12	2007-12-07			ENSG00000053438	ENSG00000053438			7860	protein-coding gene	gene with protein product		603106				8660979	Standard	NM_005386		Approved	Peg5	uc002xhd.3	Q16517	OTTHUMG00000032420	ENST00000062104.2:c.161G>T	chr20.hg19:g.36151076G>T	ENSP00000062104:p.Arg54Met		B2R558|E1P5V6|Q16596|Q5U0N3	Missense_Mutation	SNP	ENST00000062104.2	hg19	CCDS13296.1	.	.	.	.	.	.	.	.	.	.	G	17.27	3.346799	0.61073	.	.	ENSG00000053438	ENST00000062104;ENST00000346199	.	.	.	5.0	4.05	0.47172	.	0.000000	0.53938	D	0.000058	T	0.47544	0.1451	.	.	.	0.30345	N	0.785383	D;P	0.58268	0.982;0.927	P;P	0.52793	0.709;0.702	T	0.52704	-0.8540	8	0.87932	D	0	-12.1953	8.6775	0.34187	0.1003:0.0:0.8997:0.0	.	27;54	Q16517-2;Q16517	.;NNAT_HUMAN	M	54;27	.	ENSP00000062104:R54M	R	+	2	0	NNAT	35584490	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.344000	0.44010	2.780000	0.95670	0.644000	0.83932	AGG		0.687	NNAT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079116.2	NM_005386		T	36151076	G	T	36151076	3	4	794	1	0	0	0	0	1	0	0	0	10510	1000	35	4	171	4	NNAT	20	36151076	Missense_Mutation	SNP	G	TCGA-SX-A7SR-01A-12D-A35Z-10		36151076	26874444	81	47335											
GTSF1L	149699	hgsc.bcm.edu	37	20	42355169	42355169	+	Silent	SNP	G	G	A	rs17826038	byFrequency	TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr20:42355169G>A	ENST00000373003.1	-	1	469	c.166C>T	c.(166-168)Ctg>Ttg	p.L56L	GTSF1L_ENST00000373005.2_Silent_p.L56L	NM_001008901.1|NM_176791.3	NP_001008901.1|NP_789761.1	Q9H1H1	GTSFL_HUMAN	gametocyte specific factor 1-like	56			L -> V (in dbSNP:rs17826038).				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)			TGTTCCTCCAGATTTTTGATG	0.522																																																0													125	111	116					20																	42355169		2203	4300	6503	SO:0001819	synonymous_variant	149699			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.166C>T	chr20.hg19:g.42355169G>A			Q5JWH5	Silent	SNP	ENST00000373003.1	hg19	CCDS13323.1																																																																																				0.522	GTSF1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079313.1	NM_176791		A	42355169	G	A	42355169	2	1	794	1	0	0	0	0	0	0	0	1	6889	933	33	2		2	GTSF1L	20	42355169	Silent	SNP	G	TCGA-SX-A7SR-01A-12D-A35Z-10	6204093	42355169	20670351	82	47336											
PRIC285	85441	hgsc.bcm.edu	37	20	62198210	62198210	+	Missense_Mutation	SNP	G	G	C			TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr20:62198210G>C	ENST00000467148.1	-	6	2570	c.2501C>G	c.(2500-2502)tCc>tGc	p.S834C	HELZ2_ENST00000427522.2_Missense_Mutation_p.S265C	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	834	Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										GGCACCGTGGGAAACGACACA	0.711																																																0													31	36	34					20																	62198210		2199	4298	6497	SO:0001583	missense	85441			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.2501C>G	chr20.hg19:g.62198210G>C	ENSP00000417401:p.Ser834Cys		Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	hg19	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.989411	0.53934	.	.	ENSG00000130589	ENST00000427522;ENST00000467148	D;D	0.93659	-3.26;-3.26	5.13	5.13	0.70059	.	0.247072	0.42420	D	0.000715	D	0.96454	0.8843	M	0.75777	2.31	0.45541	D	0.998499	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.991	D	0.96215	0.9156	10	0.48119	T	0.1	-45.9206	18.5866	0.91192	0.0:0.0:1.0:0.0	.	834;265	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	C	265;834	ENSP00000393257:S265C;ENSP00000417401:S834C	ENSP00000393257:S265C	S	-	2	0	RP4-697K14.7	61668654	1.000000	0.71417	0.900000	0.35374	0.009000	0.06853	6.746000	0.74866	2.399000	0.81585	0.561000	0.74099	TCC		0.711	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		C	62198210	G	C	62198210	3	2	794	1	0	0	0	0	1	0	0	0	12490	1174	41	4	5504	4	PRIC285	20	62198210	Missense_Mutation	SNP	G	TCGA-SX-A7SR-01A-12D-A35Z-10	19843041	62198210	827310	83	47337											
MX2	4600	hgsc.bcm.edu	37	21	42770936	42770936	+	Missense_Mutation	SNP	T	T	C			TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr21:42770936T>C	ENST00000330714.3	+	9	1446	c.1262T>C	c.(1261-1263)tTt>tCt	p.F421S	MX2_ENST00000496774.1_3'UTR	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	MX dynamin-like GTPase 2	421					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)				AAGATGTTCTTTCTAATTGAG	0.577																																																0													74	77	76					21																	42770936		2203	4300	6503	SO:0001583	missense	4600				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.1262T>C	chr21.hg19:g.42770936T>C	ENSP00000333657:p.Phe421Ser		B7Z5D3|D3DSI7	Missense_Mutation	SNP	ENST00000330714.3	hg19	CCDS13672.1	.	.	.	.	.	.	.	.	.	.	T	19.56	3.849740	0.71603	.	.	ENSG00000183486	ENST00000330714	T	0.74315	-0.83	3.96	3.96	0.45880	Dynamin central domain (1);	0.000000	0.85682	D	0.000000	D	0.83862	0.5346	M	0.83774	2.66	0.80722	D	1	D	0.56746	0.977	P	0.61722	0.893	D	0.85784	0.1363	10	0.66056	D	0.02	-11.5518	10.8722	0.46889	0.0:0.0:0.0:1.0	.	421	P20592	MX2_HUMAN	S	421	ENSP00000333657:F421S	ENSP00000333657:F421S	F	+	2	0	MX2	41692806	1.000000	0.71417	0.970000	0.41538	0.785000	0.44390	3.190000	0.50973	1.737000	0.51674	0.402000	0.26972	TTT		0.577	MX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195147.1	NM_002463		C	42770936	T	C	42770936	3	2	794	1	0	0	0	0	1	0	0	0	10000	1841	64	3	1292	3	MX2	21	42770936	Missense_Mutation	SNP	T	TCGA-SX-A7SR-01A-12D-A35Z-10		42770936	5358959	84	47338											
TBC1D10A	83874	hgsc.bcm.edu	37	22	30690962	30690962	+	Missense_Mutation	SNP	C	C	A			TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr22:30690962C>A	ENST00000215790.7	-	5	771	c.607G>T	c.(607-609)Gcc>Tcc	p.A203S	TBC1D10A_ENST00000403362.1_Missense_Mutation_p.A115S|TBC1D10A_ENST00000403477.3_Missense_Mutation_p.A210S|RP1-130H16.18_ENST00000447976.1_Missense_Mutation_p.A77S	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	203	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				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						AAGACAGCGGCAATGGGCGCC	0.667																																																0													69	71	70					22																	30690962		2203	4300	6503	SO:0001583	missense	83874			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.607G>T	chr22.hg19:g.30690962C>A	ENSP00000215790:p.Ala203Ser		B3KXT8|O76053|Q20WK7|Q543A2	Missense_Mutation	SNP	ENST00000215790.7	hg19	CCDS13874.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.450603	0.84101	.	.	ENSG00000248751;ENSG00000099992;ENSG00000099992;ENSG00000099992;ENSG00000099992	ENST00000434291;ENST00000215790;ENST00000403477;ENST00000403362;ENST00000393906	T;T;T;T;T	0.06449	3.3;3.3;3.3;3.3;3.3	4.33	3.29	0.37713	Rab-GAP/TBC domain (4);	0.051488	0.85682	N	0.000000	T	0.29524	0.0736	M	0.91561	3.22	0.80722	D	1	D;D;D;D	0.71674	0.998;0.975;0.998;0.998	D;D;D;D	0.70016	0.951;0.919;0.951;0.967	T	0.31308	-0.9948	10	0.87932	D	0	.	12.5231	0.56072	0.1684:0.8316:0.0:0.0	.	203;210;203;203	Q20WK7;B3KXT8;Q9BXI6;A7E244	.;.;TB10A_HUMAN;.	S	77;203;210;115;115	ENSP00000401535:A77S;ENSP00000215790:A203S;ENSP00000384996:A210S;ENSP00000385050:A115S;ENSP00000377484:A115S	ENSP00000331267:A64S	A	-	1	0	TBC1D10A;RP1-130H16.18	29020962	1.000000	0.71417	0.806000	0.32338	0.901000	0.52897	7.592000	0.82676	1.150000	0.42419	0.561000	0.74099	GCC		0.667	TBC1D10A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320550.1	NM_031937		A	30690962	C	A	30690962	3	1	794	1	0	0	0	0	1	0	0	0	15603	710	25	4	939	4	TBC1D10A	22	30690962	Missense_Mutation	SNP	C	TCGA-SX-A7SR-01A-12D-A35Z-10		30690962	20613604	85	47339											
MORC2	22880	hgsc.bcm.edu	37	22	31331096	31331096	+	Missense_Mutation	SNP	A	A	G			TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chr22:31331096A>G	ENST00000397641.3	-	19	2273	c.1865T>C	c.(1864-1866)aTc>aCc	p.I622T	MORC2_ENST00000469915.1_5'Flank|MORC2-AS1_ENST00000441558.1_RNA|MORC2_ENST00000215862.4_Missense_Mutation_p.I560T			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	622						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						GGCGTTCCTGATCACAGCAGG	0.577																																																0													25	28	27					22																	31331096		2203	4300	6503	SO:0001583	missense	22880			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.1865T>C	chr22.hg19:g.31331096A>G	ENSP00000380763:p.Ile622Thr		B2RNB1|Q9UF28|Q9Y6V2	Missense_Mutation	SNP	ENST00000397641.3	hg19		.	.	.	.	.	.	.	.	.	.	A	14.91	2.675729	0.47781	.	.	ENSG00000133422	ENST00000397641;ENST00000215862	T;T	0.11495	2.77;2.77	5.76	5.76	0.90799	.	0.113886	0.64402	D	0.000005	T	0.12987	0.0315	L	0.51422	1.61	0.80722	D	1	P	0.44734	0.842	B	0.42692	0.395	T	0.13495	-1.0507	10	0.13853	T	0.58	.	14.6387	0.68708	1.0:0.0:0.0:0.0	.	622	Q9Y6X9	MORC2_HUMAN	T	622;560	ENSP00000380763:I622T;ENSP00000215862:I560T	ENSP00000215862:I560T	I	-	2	0	MORC2	29661096	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.554000	0.82212	2.201000	0.70794	0.533000	0.62120	ATC		0.577	MORC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000321710.2	NM_014941		G	31331096	A	G	31331096	3	3	794	1	0	0	0	0	1	0	0	0	9704	333	12	3	1265	3	MORC2	22	31331096	Missense_Mutation	SNP	A	TCGA-SX-A7SR-01A-12D-A35Z-10	640134	31331096	19973470	86	47340											
ARHGAP6	395	hgsc.bcm.edu	37	X	11160422	11160422	+	Missense_Mutation	SNP	C	C	T			TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chrX:11160422C>T	ENST00000337414.4	-	12	3060	c.2188G>A	c.(2188-2190)Gag>Aag	p.E730K	ARHGAP6_ENST00000303025.6_Missense_Mutation_p.E527K|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.E527K|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.E555K	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	730					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						TCGAAAGGCTCCTCTGACAGA	0.328																																																0													87	85	86					X																	11160422		2203	4300	6503	SO:0001583	missense	395			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.2188G>A	chrX.hg19:g.11160422C>T	ENSP00000338967:p.Glu730Lys		B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Missense_Mutation	SNP	ENST00000337414.4	hg19	CCDS14140.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.771539	0.69992	.	.	ENSG00000047648	ENST00000534860;ENST00000380736;ENST00000303025;ENST00000337414	T;T;T;T	0.28454	1.73;1.65;1.65;1.61	5.24	5.24	0.73138	.	0.111709	0.39083	N	0.001463	T	0.37892	0.1020	M	0.65975	2.015	0.80722	D	1	P;P	0.46064	0.872;0.872	B;B	0.42738	0.396;0.396	T	0.21930	-1.0231	10	0.32370	T	0.25	.	18.0066	0.89211	0.0:1.0:0.0:0.0	.	730;730	O43182;A8KAL3	RHG06_HUMAN;.	K	555;527;527;730	ENSP00000438135:E555K;ENSP00000370112:E527K;ENSP00000302312:E527K;ENSP00000338967:E730K	ENSP00000302312:E527K	E	-	1	0	ARHGAP6	11070343	1.000000	0.71417	0.998000	0.56505	0.931000	0.56810	6.483000	0.73617	2.186000	0.69663	0.594000	0.82650	GAG		0.328	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055760.2	NM_013427		T	11160422	C	T	11160422	3	4	794	1	0	0	0	0	1	0	0	0	887	864	30	2	744	2	ARHGAP6	23	11160422	Missense_Mutation	SNP	C	TCGA-SX-A7SR-01A-12D-A35Z-10		11160422	144110138	87	47341											
GPRASP1	9737	hgsc.bcm.edu	37	X	101909675	101909675	+	Silent	SNP	T	T	C	rs369864268		TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chrX:101909675T>C	ENST00000361600.5	+	5	1635	c.834T>C	c.(832-834)gaT>gaC	p.D278D	GPRASP1_ENST00000415986.1_Silent_p.D278D|GPRASP1_ENST00000444152.1_Silent_p.D278D|GPRASP1_ENST00000537097.1_Silent_p.D278D|RP4-769N13.7_ENST00000602441.1_RNA	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	278					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						CCAGGGAAGATCCCAATAGCA	0.468																																																0													107	108	107					X																	101909675		2203	4300	6503	SO:0001819	synonymous_variant	9737			AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"Armadillo repeat containing"	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.834T>C	chrX.hg19:g.101909675T>C			O43168|Q96LA1	Silent	SNP	ENST00000361600.5	hg19	CCDS35352.1																																																																																				0.468	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		C	101909675	T	C	101909675	2	2	794	1	0	0	0	0	0	0	0	1	6724	1432	50	3		3	GPRASP1	23	101909675	Silent	SNP	T	TCGA-SX-A7SR-01A-12D-A35Z-10	90749253	101909675	53360885	88	47342											
RGAG1	57529	hgsc.bcm.edu	37	X	109697329	109697329	+	Missense_Mutation	SNP	T	T	C			TCGA-SX-A7SR-01A-12D-A35Z-10	TCGA-SX-A7SR-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ac24403-4088-4192-a6ee-57913809b464	3c89ac32-79c6-4277-ace0-1bc1779f3be8	g.chrX:109697329T>C	ENST00000465301.2	+	3	3730	c.3484T>C	c.(3484-3486)Tgc>Cgc	p.C1162R	RGAG1_ENST00000540313.1_Missense_Mutation_p.C1162R	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	1162										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						CCGGGGCTCATGCTCTGTGGA	0.502																																																0													97	90	92					X																	109697329		2203	4300	6503	SO:0001583	missense	57529			AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.3484T>C	chrX.hg19:g.109697329T>C	ENSP00000419786:p.Cys1162Arg		Q9P2M8	Missense_Mutation	SNP	ENST00000465301.2	hg19	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	T	8.415	0.845068	0.16963	.	.	ENSG00000243978	ENST00000465301;ENST00000540313;ENST00000540483	T;T	0.45276	0.9;0.9	4.02	2.82	0.32997	.	0.628162	0.13294	N	0.398806	T	0.36936	0.0985	L	0.27053	0.805	0.18873	N	0.999985	P	0.48016	0.904	P	0.51355	0.667	T	0.09975	-1.0650	9	.	.	.	-0.0425	6.6276	0.22839	0.0:0.0:0.2422:0.7578	.	1162	Q8NET4	RGAG1_HUMAN	R	1162;1162;723	ENSP00000419786:C1162R;ENSP00000441452:C1162R	.	C	+	1	0	RGAG1	109583985	0.000000	0.05858	0.006000	0.13384	0.954000	0.61252	-0.659000	0.05323	0.672000	0.31204	0.486000	0.48141	TGC		0.502	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		C	109697329	T	C	109697329	3	2	794	1	0	0	0	0	1	0	0	0	13280	1464	51	3	3486	3	RGAG1	23	109697329	Missense_Mutation	SNP	T	TCGA-SX-A7SR-01A-12D-A35Z-10	7787654	109697329	45573231	89	47343											
CPSF3L	54973	hgsc.bcm.edu	37	1	1248221	1248221	+	Missense_Mutation	SNP	G	G	A			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr1:1248221G>A	ENST00000435064.1	-	12	1322	c.1240C>T	c.(1240-1242)Cat>Tat	p.H414Y	CPSF3L_ENST00000450926.2_Missense_Mutation_p.H392Y|CPSF3L_ENST00000462432.1_5'UTR|CPSF3L_ENST00000540437.1_Missense_Mutation_p.H420Y|CPSF3L_ENST00000419704.1_Missense_Mutation_p.H313Y|CPSF3L_ENST00000421495.2_Missense_Mutation_p.H156Y|CPSF3L_ENST00000411962.1_Missense_Mutation_p.H316Y|CPSF3L_ENST00000545578.1_Missense_Mutation_p.H385Y	NM_001256460.1|NM_017871.5	NP_001243389.1|NP_060341.2	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like	414					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)		GCCTCGCCATGCACCAGCAGC	0.652																																																0													45	43	44					1																	1248221		2202	4295	6497	SO:0001583	missense	54973			AL136813	CCDS21.1, CCDS57959.1, CCDS57960.1, CCDS57961.1, CCDS72678.1	1p36.33	2008-02-05			ENSG00000127054	ENSG00000127054			26052	protein-coding gene	gene with protein product	"integrator complex subunit 11"	611354				15684398, 16239144	Standard	NM_001256456		Approved	FLJ20542, RC-68, CPSF73L, INT11, INTS11	uc001aee.2	Q5TA45	OTTHUMG00000003330	ENST00000435064.1:c.1240C>T	chr1.hg19:g.1248221G>A	ENSP00000413493:p.His414Tyr		A8K5S2|B3KPR3|B4DM87|G3V1S5|Q5TA46|Q5TA48|Q5TA52|Q5TA53|Q5TA54|Q7L3D7|Q96HY1|Q9BW36|Q9H0F9|Q9H8R5|Q9HAA6|Q9NWX9	Missense_Mutation	SNP	ENST00000435064.1	hg19	CCDS21.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.659224	0.88154	.	.	ENSG00000127054	ENST00000435064;ENST00000411962;ENST00000419704;ENST00000540437;ENST00000450926;ENST00000545578	T;T;T;T;T	0.77098	-0.53;-0.53;-0.53;-0.53;-1.07	5.56	5.56	0.83823	RNA-metabolising metallo-beta-lactamase (1);	0.000000	0.85682	D	0.000000	D	0.93605	0.7958	H	0.98996	4.395	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	0.95947	0.8951	10	0.87932	D	0	-33.6557	19.5079	0.95127	0.0:0.0:1.0:0.0	.	392;385;316;313;420;414	Q5TA45-3;B4DM87;C9IYS7;Q5TA45-2;G3V1S5;Q5TA45	.;.;.;.;.;INT11_HUMAN	Y	414;316;313;420;392;385	ENSP00000413493:H414Y;ENSP00000404886:H313Y;ENSP00000445001:H420Y;ENSP00000392848:H392Y;ENSP00000444672:H385Y	ENSP00000400548:H316Y	H	-	1	0	CPSF3L	1238084	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.758000	0.91663	2.611000	0.88343	0.563000	0.77884	CAT		0.652	CPSF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009360.2	NM_017871		A	1248221	G	A	1248221	3	1	795	1	0	0	0	0	1	0	0	0	3829	1319	46	2	586	2	CPSF3L	1	1248221	Missense_Mutation	SNP	G	TCGA-SX-A7SS-01A-11D-A35Z-10		1248221	248002400	1	47344											
CROCC	9696	hgsc.bcm.edu	37	1	17287328	17287328	+	Silent	SNP	C	C	T			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr1:17287328C>T	ENST00000375541.5	+	27	4177	c.4108C>T	c.(4108-4110)Ctg>Ttg	p.L1370L		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)		GCTGGGCTCCCTGGAGGAGGC	0.697											OREG0013143	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													4	5	5					1																	17287328		2042	4015	6057	SO:0001819	synonymous_variant	9696			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.4108C>T	chr1.hg19:g.17287328C>T		716		Silent	SNP	ENST00000375541.5	hg19	CCDS30616.1																																																																																				0.697	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		T	17287328	C	T	17287328	2	4	795	1	0	0	0	0	0	0	0	1	3895	680	24	2		2	CROCC	1	17287328	Silent	SNP	C	TCGA-SX-A7SS-01A-11D-A35Z-10	16039107	17287328	231963293	2	47345											
ZBTB40	9923	hgsc.bcm.edu	37	1	22816649	22816649	+	Missense_Mutation	SNP	G	G	A			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr1:22816649G>A	ENST00000375647.4	+	2	415	c.208G>A	c.(208-210)Gag>Aag	p.E70K	ZBTB40_ENST00000404138.1_Missense_Mutation_p.E70K|ZBTB40_ENST00000374651.4_Missense_Mutation_p.E70K	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	70	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		GAGCCCCGAGGAGTTTGCGCT	0.507																																																0													82	74	77					1																	22816649		2203	4300	6503	SO:0001583	missense	9923			AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.208G>A	chr1.hg19:g.22816649G>A	ENSP00000364798:p.Glu70Lys		O75066|Q5TFU5|Q8N1R1	Missense_Mutation	SNP	ENST00000375647.4	hg19	CCDS224.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.781627	0.90282	.	.	ENSG00000184677	ENST00000404138;ENST00000374649;ENST00000375647;ENST00000400239;ENST00000374651	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29	4.61	4.61	0.57282	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.53938	D	0.000053	T	0.80210	0.4581	M	0.73217	2.22	0.34524	D	0.708489	D;D	0.76494	0.999;0.999	D;D	0.79784	0.987;0.993	D	0.85064	0.0936	10	0.40728	T	0.16	-21.3726	16.3638	0.83307	0.0:0.0:1.0:0.0	.	70;70	F8WAI8;Q9NUA8	.;ZBT40_HUMAN	K	70	ENSP00000384527:E70K;ENSP00000364798:E70K;ENSP00000383098:E70K;ENSP00000363782:E70K	ENSP00000363780:E70K	E	+	1	0	ZBTB40	22689236	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.780000	0.99024	2.248000	0.74166	0.591000	0.81541	GAG		0.507	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1	NM_014870		A	22816649	G	A	22816649	3	1	795	1	0	0	0	0	1	0	0	0	17547	1175	41	2	210	2	ZBTB40	1	22816649	Missense_Mutation	SNP	G	TCGA-SX-A7SS-01A-11D-A35Z-10	5529321	22816649	226433972	3	47346											
RUNX3	864	hgsc.bcm.edu	37	1	25229150	25229150	+	Silent	SNP	C	C	T	rs567207182		TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr1:25229150C>T	ENST00000308873.6	-	5	719	c.711G>A	c.(709-711)tcG>tcA	p.S237S	RUNX3_ENST00000540420.1_Silent_p.S144S|RUNX3_ENST00000338888.3_Silent_p.S251S|RUNX3_ENST00000399916.1_Silent_p.S251S|RUNX3_ENST00000496967.1_5'UTR	NM_004350.2	NP_004341.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	237	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)		GGTTCAGTTCCGAGGTGCCTG	0.617													C|||	1	0.000199681	0.0	0.0	5008	,	,		14814	0.0		0.0	False		,,,				2504	0.001															0													60	54	56					1																	25229150		2170	4261	6431	SO:0001819	synonymous_variant	864			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.711G>A	chr1.hg19:g.25229150C>T			B1AJV5|Q12969|Q13760	Silent	SNP	ENST00000308873.6	hg19	CCDS257.1																																																																																				0.617	RUNX3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009284.1	NM_004350		T	25229150	C	T	25229150	2	4	795	1	0	0	0	0	0	0	0	1	13755	639	23	1		1	RUNX3	1	25229150	Silent	SNP	C	TCGA-SX-A7SS-01A-11D-A35Z-10	2412501	25229150	224021471	4	47347											
ZMYM6	9204	hgsc.bcm.edu	37	1	35453543	35453543	+	Missense_Mutation	SNP	G	G	A			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr1:35453543G>A	ENST00000357182.4	-	16	3367	c.3140C>T	c.(3139-3141)tCa>tTa	p.S1047L	ZMYM6_ENST00000373340.2_Intron|ZMYM6_ENST00000487874.1_Intron|RP11-244H3.1_ENST00000417456.1_RNA|ZMYM6_ENST00000493328.1_5'UTR|ZMYM6NB_ENST00000373337.3_5'Flank	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	1047					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)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				taacatacgtgaatttaatgc	0.353																																																0													45	40	42					1																	35453543		1243	2620	3863	SO:0001583	missense	9204			AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"Zinc fingers, MYM type", "Zinc fingers, BED-type"	13050	protein-coding gene	gene with protein product	"zinc finger, BED-type containing 7"	613567	"zinc finger protein 258", "zinc finger, MYM-type containing 6"	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.3140C>T	chr1.hg19:g.35453543G>A	ENSP00000349708:p.Ser1047Leu		B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Missense_Mutation	SNP	ENST00000357182.4	hg19	CCDS387.2	.	.	.	.	.	.	.	.	.	.	G	15.62	2.888269	0.52014	.	.	ENSG00000163867	ENST00000357182	T	0.20463	2.07	4.2	4.2	0.49525	Ribonuclease H-like (1);	0.074167	0.56097	D	0.000037	T	0.40247	0.1109	M	0.76838	2.35	0.80722	D	1	D	0.69078	0.997	D	0.63488	0.915	T	0.13953	-1.0490	10	0.16420	T	0.52	-12.7494	12.3464	0.55124	0.0:0.0:1.0:0.0	.	1047	O95789	ZMYM6_HUMAN	L	1047	ENSP00000349708:S1047L	ENSP00000349708:S1047L	S	-	2	0	ZMYM6	35226130	1.000000	0.71417	0.993000	0.49108	0.992000	0.81027	1.528000	0.35985	2.634000	0.89283	0.650000	0.86243	TCA		0.353	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011999.1	NM_007167		A	35453543	G	A	35453543	3	1	795	1	0	0	0	0	1	0	0	0	17709	1294	45	2	841	2	ZMYM6	1	35453543	Missense_Mutation	SNP	G	TCGA-SX-A7SS-01A-11D-A35Z-10	10224393	35453543	213797078	5	47348											
PPOX	5498	hgsc.bcm.edu	37	1	161140540	161140541	+	Frame_Shift_Ins	INS	-	-	CTTGGTCCATCTA			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr1:161140540_161140541insCTTGGTCCATCTA	ENST00000367999.4	+	11	1495_1496	c.1229_1230insCTTGGTCCATCTA	c.(1228-1233)tgcttgfs	p.-411fs	PPOX_ENST00000495483.1_3'UTR|PPOX_ENST00000352210.5_Frame_Shift_Ins_p.-411fs|PPOX_ENST00000432542.2_Frame_Shift_Ins_p.-156fs|PPOX_ENST00000535223.1_Frame_Shift_Ins_p.-74fs|B4GALT3_ENST00000470882.1_5'Flank|PPOX_ENST00000544598.1_Frame_Shift_Ins_p.-119fs	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase						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)			CCGAGCCACTGCTTGGTCCATC	0.515																																																0																																										SO:0001589	frameshift_variant	5498			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.1230_1242dupCTTGGTCCATCTA	chr1.hg19:g.161140540_161140541insCTTGGTCCATCTA	ENSP00000356978:p.Leu411fs		D3DVG0|Q5VTW8	Frame_Shift_Ins	INS	ENST00000367999.4	hg19	CCDS1221.1																																																																																				0.515	PPOX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082993.1	NM_000309		CTTGGTCCATCTA	161140541	-	CTTGGTCCATCTA	161140540	7	5	795	1	0	1	1	0	0	0	0	0	12353	1319	46	0	1267	0	PPOX	1	161140540	Frame_Shift_Ins	INS	-	TCGA-SX-A7SS-01A-11D-A35Z-10	125686997	161140540	88110081	6	47349											
RASAL2	9462	hgsc.bcm.edu	37	1	178063786	178063786	+	Silent	SNP	T	T	C			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr1:178063786T>C	ENST00000367649.3	+	1	511	c.159T>C	c.(157-159)ctT>ctC	p.L53L	RASAL2_ENST00000448150.3_Silent_p.L35L|RASAL2-AS1_ENST00000421505.1_lincRNA			Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	0	PH.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						ATCGGATCCTTCTGGAGTCCG	0.627																																																0													47	38	41					1																	178063786		2203	4300	6503	SO:0001819	synonymous_variant	9462			AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"Pleckstrin homology (PH) domain containing"	9874	protein-coding gene	gene with protein product	"Ras GTPase activating protein-like", "Ras protein activator like 1"	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000367649.3:c.159T>C	chr1.hg19:g.178063786T>C			F8W755|O95174|Q2TB22|Q5TFU9	Silent	SNP	ENST00000367649.3	hg19	CCDS1321.2																																																																																				0.627	RASAL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352415.1	NM_170692		C	178063786	T	C	178063786	2	2	795	1	0	0	0	0	0	0	0	1	13070	1770	62	3		3	RASAL2	1	178063786	Silent	SNP	T	TCGA-SX-A7SS-01A-11D-A35Z-10	16923246	178063786	71186835	7	47350											
CDC73	79577	hgsc.bcm.edu	37	1	193119495	193119495	+	Missense_Mutation	SNP	G	G	C			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr1:193119495G>C	ENST00000367435.3	+	9	1074	c.890G>C	c.(889-891)aGa>aCa	p.R297T		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	297	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						GATCAGGAAAGATTCAAAGGA	0.393																																																0													120	119	119					1																	193119495		2203	4300	6503	SO:0001583	missense	79577			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.890G>C	chr1.hg19:g.193119495G>C	ENSP00000356405:p.Arg297Thr		A6NLZ8|B2RBR2|Q6PK51|Q96A07|Q9H245|Q9H5L7	Missense_Mutation	SNP	ENST00000367435.3	hg19	CCDS1382.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.571388	0.86542	.	.	ENSG00000134371	ENST00000367435;ENST00000445394	T	0.64260	-0.09	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.79052	0.4381	M	0.85945	2.785	0.80722	D	1	D	0.54207	0.965	P	0.58780	0.845	T	0.81564	-0.0875	10	0.56958	D	0.05	-21.1674	16.9636	0.86279	0.0:0.0:1.0:0.0	.	297	Q6P1J9	CDC73_HUMAN	T	297	ENSP00000356405:R297T	ENSP00000356405:R297T	R	+	2	0	CDC73	191386118	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.330000	0.79181	2.613000	0.88420	0.655000	0.94253	AGA;AGG		0.393	CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086696.2	NM_024529		C	193119495	G	C	193119495	3	2	795	1	0	0	0	0	1	0	0	0	3087	942	33	4	924	4	CDC73	1	193119495	Missense_Mutation	SNP	G	TCGA-SX-A7SS-01A-11D-A35Z-10	15055709	193119495	56131126	8	47351											
DISP1	84976	hgsc.bcm.edu	37	1	223176848	223176848	+	Silent	SNP	A	A	G			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr1:223176848A>G	ENST00000284476.6	+	8	2273	c.2109A>G	c.(2107-2109)cgA>cgG	p.R703R		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	703					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)		AAGCATCTCGAATTTTTTTCG	0.418																																																0													129	130	130					1																	223176848		2203	4300	6503	SO:0001819	synonymous_variant	84976			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.2109A>G	chr1.hg19:g.223176848A>G			Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Silent	SNP	ENST00000284476.6	hg19	CCDS1536.1																																																																																				0.418	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		G	223176848	A	G	223176848	2	3	795	1	0	0	0	0	0	0	0	1	4541	233	9	3		3	DISP1	1	223176848	Silent	SNP	A	TCGA-SX-A7SS-01A-11D-A35Z-10	30057353	223176848	26073773	9	47352											
DISC1	27185	hgsc.bcm.edu	37	1	232094574	232094574	+	Splice_Site	SNP	A	A	G			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr1:232094574A>G	ENST00000439617.2	+	10	2035	c.1982A>G	c.(1981-1983)gAa>gGa	p.E661G	DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000535983.1_Intron|DISC1_ENST00000537876.1_Splice_Site_p.R545R|DISC1_ENST00000427560.1_3'UTR	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	661	Interaction with ATF4 and ATF5.|Interaction with TRAF3IP1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.				canonical Wnt signaling pathway (GO:0060070)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cerebral cortex radially oriented cell migration (GO:0021799)|microtubule cytoskeleton organization (GO:0000226)|mitochondrial calcium ion homeostasis (GO:0051560)|neuron migration (GO:0001764)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neuron projection development (GO:0010975)|regulation of synapse maturation (GO:0090128)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				TTTCCCCCAGAAACAAGTGTG	0.358																																																0													134	119	123					1																	232094574		1844	4087	5931	SO:0001630	splice_region_variant	27185			AF222980	CCDS31055.1, CCDS31056.1, CCDS53482.1, CCDS53483.1, CCDS53484.1, CCDS59205.1, CCDS59206.1, CCDS59207.1	1q42.1	2008-02-05			ENSG00000162946	ENSG00000162946			2888	protein-coding gene	gene with protein product		605210				10814723	Standard	NM_001164550		Approved		uc010pxh.2	Q9NRI5	OTTHUMG00000037835	ENST00000439617.2:c.1982-1A>G	chr1.hg19:g.232094574A>G			A6NLH2|C4P091|C4P095|C4P0A1|C4P0A3|C4P0B3|C4P0B6|C4P0C1|C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4	Missense_Mutation	SNP	ENST00000439617.2	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.22|11.22	1.575582|1.575582	0.28092|0.28092	.|.	.|.	ENSG00000162946|ENSG00000162946	ENST00000439617;ENST00000366637;ENST00000366638;ENST00000532576|ENST00000422590	T|.	0.10960|.	2.82|.	5.25|5.25	2.93|2.93	0.34026|0.34026	.|.	0.882695|.	0.09800|.	N|.	0.754132|.	T|T	0.36082|0.36082	0.0954|0.0954	N|N	0.20685|0.20685	0.6|0.6	0.80722|0.80722	D|D	1|1	P;B;P;D;B;B;B;B|.	0.60575|.	0.617;0.202;0.617;0.988;0.202;0.202;0.202;0.202|.	B;B;B;P;B;B;B;B|.	0.56343|.	0.306;0.097;0.242;0.796;0.158;0.097;0.097;0.097|.	T|T	0.06267|0.06267	-1.0836|-1.0836	9|5	.|.	.|.	.|.	.|.	5.0735|5.0735	0.14618|0.14618	0.6221:0.0:0.0788:0.2991|0.6221:0.0:0.0788:0.2991	.|.	693;539;693;661;539;661;661;661|.	C4P096;C4P094;E2QRA4;C4P098;F5H1F1;C4P0A4;Q9NRI5-2;Q9NRI5|.	.;.;.;.;.;.;.;DISC1_HUMAN|.	G|E	661;661;693;539|64	ENSP00000403888:E661G|.	.|.	E|K	+|+	2|1	0|0	DISC1|DISC1	230161197|230161197	0.900000|0.900000	0.30661|0.30661	0.670000|0.670000	0.29842|0.29842	0.008000|0.008000	0.06430|0.06430	0.726000|0.726000	0.25984|0.25984	0.439000|0.439000	0.26476|0.26476	-0.336000|-0.336000	0.08194|0.08194	GAA|AAA		0.358	DISC1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000092351.2	NM_018662	Missense_Mutation	G	232094574	A	G	232094574	5	3	795	1	0	0	0	0	0	0	1	0	4540	260	9	3	2752	3	DISC1	1	232094574	Splice_Site	SNP	A	TCGA-SX-A7SS-01A-11D-A35Z-10	8917726	232094574	17156047	10	47353											
C2orf70	339778	hgsc.bcm.edu	37	2	26798881	26798881	+	Silent	SNP	T	T	C			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr2:26798881T>C	ENST00000329615.3	+	2	217	c.186T>C	c.(184-186)acT>acC	p.T62T	C2orf70_ENST00000409392.1_Missense_Mutation_p.S50P	NM_001105519.1	NP_001098989.1	A6NJV1	CB070_HUMAN	chromosome 2 open reading frame 70	62						nucleus (GO:0005634)				breast(3)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	13						AGAGCCACACTCCCTTCAGCC	0.632																																																0													113	123	120					2																	26798881		2100	4228	6328	SO:0001819	synonymous_variant	339778				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.186T>C	chr2.hg19:g.26798881T>C				Silent	SNP	ENST00000329615.3	hg19	CCDS42661.1	.	.	.	.	.	.	.	.	.	.	T	3.981	-0.006358	0.07773	.	.	ENSG00000173557	ENST00000409392	.	.	.	4.68	-0.428	0.12306	.	.	.	.	.	T	0.37945	0.1022	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.39563	-0.9608	5	0.87932	D	0	-0.6075	5.2587	0.15561	0.0:0.3001:0.4213:0.2786	.	.	.	.	P	50	.	ENSP00000386615:S50P	S	+	1	0	C2orf70	26652385	0.000000	0.05858	0.000000	0.03702	0.176000	0.22953	-0.100000	0.10990	-0.085000	0.12573	0.260000	0.18958	TCC		0.632	C2orf70-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353258.1	NM_001105519		C	26798881	T	C	26798881	2	2	795	1	0	0	0	0	0	0	0	1	2192	1538	54	3		3	C2orf70	2	26798881	Silent	SNP	T	TCGA-SX-A7SS-01A-11D-A35Z-10		26798881	216400492	11	47354											
MTA3	57504	hgsc.bcm.edu	37	2	42931435	42931435	+	Missense_Mutation	SNP	G	G	A			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr2:42931435G>A	ENST00000405094.1	+	12	1127	c.1127G>A	c.(1126-1128)gGg>gAg	p.G376E	MTA3_ENST00000407270.3_Missense_Mutation_p.G376E|MTA3_ENST00000405592.1_Missense_Mutation_p.G319E|MTA3_ENST00000472767.1_3'UTR|MTA3_ENST00000406652.1_Missense_Mutation_p.G319E|MTA3_ENST00000406911.1_Missense_Mutation_p.G375E			Q9BTC8	MTA3_HUMAN	metastasis associated 1 family, member 3	376						intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						CCTCTCTTAGGGAGAGCCTGT	0.517																																																0													105	104	104					2																	42931435		1939	4130	6069	SO:0001583	missense	57504			AB033092	CCDS46267.1, CCDS62900.1	2p22.1	2013-01-25	2004-12-15		ENSG00000057935	ENSG00000057935		"GATA zinc finger domain containing"	23784	protein-coding gene	gene with protein product		609050	"metastasis associated gene family, member 3"			12705869, 14613024	Standard	NM_001282755		Approved	KIAA1266	uc002rsq.3	Q9BTC8	OTTHUMG00000150452	ENST00000405094.1:c.1127G>A	chr2.hg19:g.42931435G>A	ENSP00000385823:p.Gly376Glu		Q9NSP2|Q9ULF4	Missense_Mutation	SNP	ENST00000405094.1	hg19		.	.	.	.	.	.	.	.	.	.	G	24.9	4.580971	0.86748	.	.	ENSG00000057935	ENST00000405592;ENST00000406652;ENST00000407270;ENST00000282366;ENST00000406911;ENST00000405094	D;D;D;D;D	0.99683	-6.39;-6.39;-6.39;-6.39;-6.39	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.99677	0.9879	M	0.78637	2.42	0.80722	D	1	D;D;D	0.76494	0.998;0.995;0.999	D;D;D	0.72982	0.963;0.972;0.979	D	0.98212	1.0473	10	0.72032	D	0.01	-19.9737	20.1931	0.98233	0.0:0.0:1.0:0.0	.	375;376;319	E7EQY4;Q9BTC8-2;D6W5A2	.;.;.	E	319;319;376;376;375;376	ENSP00000383973:G319E;ENSP00000384249:G319E;ENSP00000385045:G376E;ENSP00000385241:G375E;ENSP00000385823:G376E	ENSP00000282366:G376E	G	+	2	0	MTA3	42784939	1.000000	0.71417	0.161000	0.22692	0.689000	0.40095	7.568000	0.82369	2.771000	0.95319	0.563000	0.77884	GGG		0.517	MTA3-017	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000318159.1	NM_020744		A	42931435	G	A	42931435	3	1	795	1	0	0	0	0	1	0	0	0	9912	1232	43	2	1173	2	MTA3	2	42931435	Missense_Mutation	SNP	G	TCGA-SX-A7SS-01A-11D-A35Z-10	16132554	42931435	200267938	12	47355											
ABCG8	64241	hgsc.bcm.edu	37	2	44100948	44100948	+	Nonsense_Mutation	SNP	C	C	T	rs137852991		TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr2:44100948C>T	ENST00000272286.2	+	9	1324	c.1234C>T	c.(1234-1236)Cga>Tga	p.R412*		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	412	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)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|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)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)	p.R412*(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	CAACGACTTCCGAGACCTGCC	0.537																																																1	Substitution - Nonsense(1)	endometrium(1)	GRCh37	CM003583	ABCG8	M	rs137852991						185	184	184					2																	44100948		2203	4300	6503	SO:0001587	stop_gained	64241			AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"ATP binding cassette transporters / subfamily G"	13887	protein-coding gene	gene with protein product	"gallbladder disease 4", "sterolin 2"	605460	"ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.1234C>T	chr2.hg19:g.44100948C>T	ENSP00000272286:p.Arg412*		Q53QN8	Nonsense_Mutation	SNP	ENST00000272286.2	hg19	CCDS1815.1	.	.	.	.	.	.	.	.	.	.	C	37	6.316278	0.97467	.	.	ENSG00000143921	ENST00000272286	.	.	.	5.16	4.19	0.49359	.	0.110224	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.54	0.84383	0.1692:0.8308:0.0:0.0	.	.	.	.	X	412	.	ENSP00000272286:R412X	R	+	1	2	ABCG8	43954452	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.074000	0.41529	2.420000	0.82092	0.561000	0.74099	CGA		0.537	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250671.1	NM_022437		T	44100948	C	T	44100948	4	4	795	1	0	0	0	0	0	1	0	0	72	644	23	1	1268	1	ABCG8	2	44100948	Nonsense_Mutation	SNP	C	TCGA-SX-A7SS-01A-11D-A35Z-10	1169513	44100948	199098425	13	47356											
WDR33	55339	hgsc.bcm.edu	37	2	128482691	128482691	+	Missense_Mutation	SNP	A	A	C			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr2:128482691A>C	ENST00000322313.4	-	9	1108	c.950T>G	c.(949-951)aTc>aGc	p.I317S		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	317					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TAGGTTTCTGATATCAAAAAG	0.403																																																0													99	98	98					2																	128482691		2203	4300	6503	SO:0001583	missense	55339				CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"WD repeat domain containing"	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.950T>G	chr2.hg19:g.128482691A>C	ENSP00000325377:p.Ile317Ser		Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	ENST00000322313.4	hg19	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	A	19.38	3.816481	0.70912	.	.	ENSG00000136709	ENST00000322313	T	0.01438	4.89	5.43	5.43	0.79202	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	0.07279	0.0184	M	0.64170	1.965	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	T	0.03784	-1.1004	10	0.87932	D	0	-6.5886	15.4804	0.75521	1.0:0.0:0.0:0.0	.	317	Q9C0J8	WDR33_HUMAN	S	317	ENSP00000325377:I317S	ENSP00000325377:I317S	I	-	2	0	WDR33	128199161	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.109000	0.94291	2.058000	0.61347	0.460000	0.39030	ATC		0.403	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		C	128482691	A	C	128482691	3	2	795	1	0	0	0	0	1	0	0	0	17292	333	12	5	3116	5	WDR33	2	128482691	Missense_Mutation	SNP	A	TCGA-SX-A7SS-01A-11D-A35Z-10	84381743	128482691	114716682	14	47357											
MBD5	55777	hgsc.bcm.edu	37	2	149243320	149243320	+	Missense_Mutation	SNP	C	C	T			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr2:149243320C>T	ENST00000407073.1	+	11	3852	c.2855C>T	c.(2854-2856)tCa>tTa	p.S952L	MBD5_ENST00000404807.1_Missense_Mutation_p.S1185L	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	952					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)		GGTGATATGTCATCAATAAAC	0.358																																																0													41	37	39					2																	149243320		2203	4300	6503	SO:0001583	missense	55777			AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.2855C>T	chr2.hg19:g.149243320C>T	ENSP00000386049:p.Ser952Leu		A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	ENST00000407073.1	hg19	CCDS33302.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.5|27.5	4.833069|4.833069	0.91036|0.91036	.|.	.|.	ENSG00000204406|ENSG00000204406	ENST00000416015|ENST00000407073;ENST00000404807	.|T;T	.|0.26660	.|1.72;1.72	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	.|0.122895	.|0.37483	.|N	.|0.002076	T|T	0.16257|0.16257	0.0391|0.0391	N|N	0.14661|0.14661	0.345|0.345	0.35544|0.35544	D|D	0.803325|0.803325	.|P;P	.|0.42518	.|0.782;0.782	.|B;B	.|0.31614	.|0.098;0.133	T|T	0.19582|0.19582	-1.0301|-1.0301	5|10	.|0.72032	.|D	.|0.01	-1.3737|-1.3737	19.3258|19.3258	0.94261|0.94261	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1185;952	.|E9PHH0;Q9P267	.|.;MBD5_HUMAN	Y|L	925|952;1185	.|ENSP00000386049:S952L;ENSP00000384672:S1185L	.|ENSP00000384672:S1185L	H|S	+|+	1|2	0|0	MBD5|MBD5	148959790|148959790	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.677000|5.677000	0.68142|0.68142	2.579000|2.579000	0.87056|0.87056	0.591000|0.591000	0.81541|0.81541	CAT|TCA		0.358	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2			T	149243320	C	T	149243320	3	4	795	1	0	0	0	0	1	0	0	0	9349	838	29	2	2877	2	MBD5	2	149243320	Missense_Mutation	SNP	C	TCGA-SX-A7SS-01A-11D-A35Z-10	20760629	149243320	93956053	15	47358											
TTN	7273	hgsc.bcm.edu	37	2	179606399	179606399	+	Missense_Mutation	SNP	A	A	T			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr2:179606399A>T	ENST00000591111.1	-	46	10834	c.10610T>A	c.(10609-10611)tTc>tAc	p.F3537Y	TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.F3683Y|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.F3616Y|TTN_ENST00000589042.1_Missense_Mutation_p.F3854Y|TTN_ENST00000460472.2_Missense_Mutation_p.F3491Y|TTN-AS1_ENST00000582847.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13872	Ig-like 21.				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)			TCCATTAAAGAACCACTGAAT	0.403																																																0													118	114	115					2																	179606399		1916	4118	6034	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10610T>A	chr2.hg19:g.179606399A>T	ENSP00000465570:p.Phe3537Tyr		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	hg19		.	.	.	.	.	.	.	.	.	.	A	14.22	2.470726	0.43942	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.40756	1.02;1.02;1.02	6.07	6.07	0.98685	.	.	.	.	.	T	0.39436	0.1078	N	0.05280	-0.08	0.24253	N	0.995318	P;P;P	0.51537	0.946;0.946;0.946	P;P;P	0.54060	0.741;0.741;0.741	T	0.46978	-0.9152	9	0.87932	D	0	.	16.635	0.85050	1.0:0.0:0.0:0.0	.	3491;3616;3683	D3DPF9;E7EQE6;E7ET18	.;.;.	Y	3491;3683;3616;3491	ENSP00000434586:F3491Y;ENSP00000340554:F3683Y;ENSP00000352154:F3616Y	ENSP00000340554:F3683Y	F	-	2	0	TTN	179314644	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.141000	0.71744	2.330000	0.79161	0.477000	0.44152	TTC		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179606399	A	T	179606399	3	4	795	1	0	0	0	0	1	0	0	0	16740	246	9	5	93228	5	TTN	2	179606399	Missense_Mutation	SNP	A	TCGA-SX-A7SS-01A-11D-A35Z-10	30363079	179606399	63592974	16	47359											
MYO1B	4430	hgsc.bcm.edu	37	2	192206229	192206230	+	Frame_Shift_Ins	INS	-	-	A			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr2:192206229_192206230insA	ENST00000392318.3	+	5	636_637	c.389_390insA	c.(388-393)ggaaaafs	p.GK130fs	MYO1B_ENST00000339514.4_Frame_Shift_Ins_p.GK130fs|MYO1B_ENST00000392316.1_Frame_Shift_Ins_p.GK130fs|MYO1B_ENST00000304164.4_Frame_Shift_Ins_p.GK130fs	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	130	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)			GCTGTTTGTGGAAAAGGAGCAG	0.381																																																0																																										SO:0001589	frameshift_variant	4430			L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"Myosins / Myosin superfamily : Class I"	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.393dupA	chr2.hg19:g.192206233_192206233dupA	ENSP00000376132:p.Gly130fs		O43794|Q7Z6L5	Frame_Shift_Ins	INS	ENST00000392318.3	hg19	CCDS46477.1																																																																																				0.381	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	NM_012223		A	192206230	-	A	192206229	7	5	795	1	0	1	1	0	0	0	0	0	10071	1174	41	0	403	0	MYO1B	2	192206229	Frame_Shift_Ins	INS	-	TCGA-SX-A7SS-01A-11D-A35Z-10	12599830	192206229	50993144	17	47360											
COL4A3	1285	hgsc.bcm.edu	37	2	228176530	228176530	+	Frame_Shift_Del	DEL	G	G	-			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr2:228176530delG	ENST00000396578.3	+	52	5119	c.4957delG	c.(4957-4959)gggfs	p.G1653fs	AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000396588.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1653	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		TGTGAAAGCTGGGGAATTAGA	0.318																																																0													62	62	62					2																	228176530		1802	4070	5872	SO:0001589	frameshift_variant	1285				CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"Collagens"	2204	protein-coding gene	gene with protein product	"tumstatin"	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.4957delG	chr2.hg19:g.228176530delG	ENSP00000379823:p.Gly1653fs		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Frame_Shift_Del	DEL	ENST00000396578.3	hg19	CCDS42829.1																																																																																				0.318	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091		-	228176530	G	-	228176530	7	5	795	1	0	1	0	1	0	0	0	0	3693	1357	47	0	5163	0	COL4A3	2	228176530	Frame_Shift_Del	DEL	G	TCGA-SX-A7SS-01A-11D-A35Z-10	35970301	228176530	15022843	18	47361											
UGT1A9	54600	hgsc.bcm.edu	37	2	234581095	234581095	+	Missense_Mutation	SNP	T	T	C			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr2:234581095T>C	ENST00000354728.4	+	1	597	c.515T>C	c.(514-516)aTa>aCa	p.I172T	UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000609637.1_Missense_Mutation_p.I172T			O60656	UD19_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A9	172					cellular glucuronidation (GO:0052695)|cellular lipid metabolic process (GO:0044255)|drug metabolic process (GO:0017144)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|xenobiotic glucuronidation (GO:0052697)|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)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)			breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	Acetaminophen(DB00316)|Buprenorphine(DB00921)|Canagliflozin(DB08907)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Entacapone(DB00494)|Etodolac(DB00749)|Ezogabine(DB04953)|Flurbiprofen(DB00712)|Haloperidol(DB00502)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ketobemidone(DB06738)|Lumiracoxib(DB01283)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Nateglinide(DB00731)|Niflumic Acid(DB04552)|Oxazepam(DB00842)|Propofol(DB00818)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sulfamethoxazole(DB01015)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zileuton(DB00744)	GCCAGGGGAATACTTTGCCAC	0.468																																																0													170	172	171					2																	234581095		2203	4300	6503	SO:0001583	missense	54600			AF056188	CCDS2505.1	2q37	2010-03-05	2005-07-20		ENSG00000241119	ENSG00000241119		"UDP glucuronosyltransferases"	12541	other	complex locus constituent		606434	"UDP glycosyltransferase 1 family, polypeptide A9"			9295054, 1910331	Standard	NM_021027		Approved	HLUGP4, LUGP4, UGT1AI		O60656	OTTHUMG00000059124	ENST00000354728.4:c.515T>C	chr2.hg19:g.234581095T>C	ENSP00000346768:p.Ile172Thr		B8K285|P36509|Q9HAX0	Missense_Mutation	SNP	ENST00000354728.4	hg19	CCDS2505.1	.	.	.	.	.	.	.	.	.	.	T	0.009	-1.809371	0.00606	.	.	ENSG00000241119	ENST00000354728	T	0.60171	0.21	3.41	0.854	0.19007	.	.	.	.	.	T	0.40094	0.1103	L	0.28694	0.88	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.003	T	0.22452	-1.0216	9	0.21014	T	0.42	.	7.6603	0.28400	0.0:0.1854:0.0:0.8146	.	172;172	Q5DSZ5;O60656	.;UD19_HUMAN	T	172	ENSP00000346768:I172T	ENSP00000346768:I172T	I	+	2	0	UGT1A9	234245834	0.009000	0.17119	0.005000	0.12908	0.099000	0.18886	1.826000	0.39092	0.066000	0.16515	0.362000	0.22060	ATA		0.468	UGT1A9-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130995.1	NM_021027		C	234581095	T	C	234581095	3	2	795	1	0	0	0	0	1	0	0	0	16957	1406	49	3	517	3	UGT1A9	2	234581095	Missense_Mutation	SNP	T	TCGA-SX-A7SS-01A-11D-A35Z-10	6404565	234581095	8618278	19	47362											
ZNF660	285349	hgsc.bcm.edu	37	3	44636593	44636593	+	Missense_Mutation	SNP	A	A	T			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr3:44636593A>T	ENST00000322734.2	+	3	1241	c.908A>T	c.(907-909)aAa>aTa	p.K303I	RP11-944L7.4_ENST00000457331.1_RNA	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	303					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)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		AAACCCTATAAATGTAGTGAG	0.378																																																0													62	63	63					3																	44636593		2203	4300	6503	SO:0001583	missense	285349			AK094189	CCDS2716.1	3p21.32	2013-01-08			ENSG00000144792	ENSG00000144792		"Zinc fingers, C2H2-type"	26720	protein-coding gene	gene with protein product							Standard	NM_173658		Approved	FLJ36870	uc003cnl.1	Q6AZW8	OTTHUMG00000133097	ENST00000322734.2:c.908A>T	chr3.hg19:g.44636593A>T	ENSP00000324605:p.Lys303Ile		Q7Z331|Q8N9M8	Missense_Mutation	SNP	ENST00000322734.2	hg19	CCDS2716.1	.	.	.	.	.	.	.	.	.	.	A	16.02	3.003841	0.54254	.	.	ENSG00000144792	ENST00000322734	T	0.20881	2.04	4.21	4.21	0.49690	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.30039	0.0752	M	0.64170	1.965	0.80722	D	1	P	0.37122	0.583	P	0.45343	0.477	T	0.04041	-1.0982	8	.	.	.	.	12.6704	0.56864	1.0:0.0:0.0:0.0	.	303	Q6AZW8	ZN660_HUMAN	I	303	ENSP00000324605:K303I	.	K	+	2	0	ZNF660	44611597	0.000000	0.05858	1.000000	0.80357	0.992000	0.81027	0.027000	0.13621	1.887000	0.54652	0.528000	0.53228	AAA		0.378	ZNF660-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256756.4	NM_173658		T	44636593	A	T	44636593	3	4	795	1	0	0	0	0	1	0	0	0	18075	14	1	5	910	5	ZNF660	3	44636593	Missense_Mutation	SNP	A	TCGA-SX-A7SS-01A-11D-A35Z-10		44636593	153385837	20	47363											
RNF123	63891	hgsc.bcm.edu	37	3	49740161	49740162	+	Frame_Shift_Ins	INS	-	-	A			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr3:49740161_49740162insA	ENST00000327697.6	+	20	1869_1870	c.1725_1726insA	c.(1726-1728)aatfs	p.N576fs	RNF123_ENST00000432042.1_Frame_Shift_Ins_p.N430fs	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	576					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		ACAAGGCTTCCAATCCTCATGC	0.569																																																0																																										SO:0001589	frameshift_variant	63891			AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"RING-type (C3HC4) zinc fingers"	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.1727dupA	chr3.hg19:g.49740163_49740163dupA	ENSP00000328287:p.Asn576fs		A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Frame_Shift_Ins	INS	ENST00000327697.6	hg19	CCDS33758.1																																																																																				0.569	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		A	49740162	-	A	49740161	7	5	795	1	0	1	1	0	0	0	0	0	13439	581	21	0	1799	0	RNF123	3	49740161	Frame_Shift_Ins	INS	-	TCGA-SX-A7SS-01A-11D-A35Z-10	5103568	49740161	148282269	21	47364											
ITIH1	3697	hgsc.bcm.edu	37	3	52822035	52822035	+	Missense_Mutation	SNP	C	C	A			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr3:52822035C>A	ENST00000273283.2	+	17	1982	c.1958C>A	c.(1957-1959)aCt>aAt	p.T653N	ITIH1_ENST00000405128.3_Missense_Mutation_p.T19N|ITIH1_ENST00000537050.1_Missense_Mutation_p.T365N|ITIH1_ENST00000542827.1_Intron|ITIH1_ENST00000540715.1_Missense_Mutation_p.T511N	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	653	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)		CCTTCTCCTACTCATTCCAGC	0.617																																																0													136	125	129					3																	52822035		2203	4300	6503	SO:0001583	missense	3697				CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957			6166	protein-coding gene	gene with protein product		147270	"inter-alpha (globulin) inhibitor, H1 polypeptide"			1385302, 10100603	Standard	NM_002215		Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.1958C>A	chr3.hg19:g.52822035C>A	ENSP00000273283:p.Thr653Asn		A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Missense_Mutation	SNP	ENST00000273283.2	hg19	CCDS2864.1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.374837	0.42105	.	.	ENSG00000055957	ENST00000273283;ENST00000540715;ENST00000537050;ENST00000428133;ENST00000405128	T;T;T;T;T	0.11604	4.82;4.69;4.51;3.98;2.76	4.0	4.0	0.46444	.	0.496604	0.21728	N	0.070006	T	0.10723	0.0262	N	0.14661	0.345	0.25779	N	0.984742	B;P;D;P	0.67145	0.13;0.704;0.996;0.842	B;B;P;B	0.53649	0.039;0.138;0.731;0.397	T	0.20874	-1.0262	10	0.24483	T	0.36	-19.4772	11.9255	0.52817	0.0:1.0:0.0:0.0	.	511;19;254;653	F5H165;B5MCP1;Q9P1C5;P19827	.;.;.;ITIH1_HUMAN	N	653;511;365;206;19	ENSP00000273283:T653N;ENSP00000443973:T511N;ENSP00000443847:T365N;ENSP00000395836:T206N;ENSP00000384589:T19N	ENSP00000273283:T653N	T	+	2	0	ITIH1	52797075	0.039000	0.19947	0.357000	0.25798	0.136000	0.21042	1.311000	0.33562	2.525000	0.85131	0.655000	0.94253	ACT		0.617	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317522.1	NM_002215		A	52822035	C	A	52822035	3	1	795	1	0	0	0	0	1	0	0	0	7905	565	20	4	2024	4	ITIH1	3	52822035	Missense_Mutation	SNP	C	TCGA-SX-A7SS-01A-11D-A35Z-10	3081874	52822035	145200395	22	47365											
DNAH12	201625	hgsc.bcm.edu	37	3	57419454	57419454	+	Missense_Mutation	SNP	T	T	C			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr3:57419454T>C	ENST00000351747.2	-	31	4868	c.4688A>G	c.(4687-4689)gAa>gGa	p.E1563G		NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	1563	AAA 2. {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						AATGACCTTTTCTTCCTCTCC	0.388																																																0													240	209	218					3																	57419454		692	1591	2283	SO:0001583	missense	201625			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.4688A>G	chr3.hg19:g.57419454T>C	ENSP00000295937:p.Glu1563Gly		A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Missense_Mutation	SNP	ENST00000351747.2	hg19		.	.	.	.	.	.	.	.	.	.	T	17.35	3.368116	0.61513	.	.	ENSG00000174844	ENST00000351747;ENST00000495027	T;T	0.52754	0.65;0.65	5.73	5.73	0.89815	ATPase, dynein-related, AAA domain (1);	.	.	.	.	T	0.47985	0.1475	N	0.20610	0.595	0.80722	D	1	D	0.58268	0.982	P	0.56278	0.795	T	0.40627	-0.9553	9	0.27082	T	0.32	.	16.0246	0.80532	0.0:0.0:0.0:1.0	.	1563	Q6ZR08	DYH12_HUMAN	G	1563;1586	ENSP00000295937:E1563G;ENSP00000418137:E1586G	ENSP00000295937:E1563G	E	-	2	0	DNAH12	57394494	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.896000	0.87350	2.175000	0.68902	0.533000	0.62120	GAA		0.388	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_178504		C	57419454	T	C	57419454	3	2	795	1	0	0	0	0	1	0	0	0	4602	1783	62	3	4706	3	DNAH12	3	57419454	Missense_Mutation	SNP	T	TCGA-SX-A7SS-01A-11D-A35Z-10	4597419	57419454	140602976	23	47366											
EPHA6	285220	hgsc.bcm.edu	37	3	97311466	97311466	+	Silent	SNP	G	G	A			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr3:97311466G>A	ENST00000514100.1	+	9	815	c.573G>A	c.(571-573)ccG>ccA	p.P191P	EPHA6_ENST00000389672.5_Silent_p.P799P|EPHA6_ENST00000442602.2_Silent_p.P165P|EPHA6_ENST00000502694.1_Silent_p.P191P	NM_001278300.1	NP_001265229.1	Q9UF33	EPHA6_HUMAN	EPH receptor A6	705	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					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						GATCCTTCCCGGCCATTGGGG	0.448																																																0													60	61	61					3																	97311466		1820	4086	5906	SO:0001819	synonymous_variant	285220			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	ENST00000514100.1:c.573G>A	chr3.hg19:g.97311466G>A			D6RAL5	Silent	SNP	ENST00000514100.1	hg19																																																																																					0.448	EPHA6-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000359997.1	NM_001080448		A	97311466	G	A	97311466	2	1	795	1	0	0	0	0	0	0	0	1	5173	1103	39	1		1	EPHA6	3	97311466	Silent	SNP	G	TCGA-SX-A7SS-01A-11D-A35Z-10	39892012	97311466	100710964	24	47367											
MBNL1	4154	hgsc.bcm.edu	37	3	152132779	152132779	+	Missense_Mutation	SNP	T	T	C			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr3:152132779T>C	ENST00000463374.1	+	2	735	c.224T>C	c.(223-225)tTa>tCa	p.L75S	MBNL1_ENST00000324210.5_Missense_Mutation_p.L75S|MBNL1_ENST00000545754.1_Missense_Mutation_p.L75S|MBNL1_ENST00000498502.1_Missense_Mutation_p.L75S|MBNL1_ENST00000492948.1_Missense_Mutation_p.L75S|MBNL1_ENST00000485910.1_Missense_Mutation_p.L75S|MBNL1_ENST00000485509.1_Missense_Mutation_p.L75S|MBNL1_ENST00000493459.1_Missense_Mutation_p.L18S|MBNL1_ENST00000282488.7_Missense_Mutation_p.L75S|MBNL1_ENST00000355460.2_Missense_Mutation_p.L75S|MBNL1_ENST00000282486.6_Missense_Mutation_p.L75S|MBNL1_ENST00000324196.5_Missense_Mutation_p.L75S|MBNL1_ENST00000357472.3_Missense_Mutation_p.L75S	NM_207293.1	NP_997176.1	Q9NR56	MBNL1_HUMAN	muscleblind-like splicing regulator 1	75					alternative mRNA splicing, via spliceosome (GO:0000380)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|mRNA splice site selection (GO:0006376)|myoblast differentiation (GO:0045445)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|skeletal muscle tissue development (GO:0007519)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CCCCCACATTTAAAAACGCAG	0.433																																																0													119	112	115					3																	152132779		2203	4300	6503	SO:0001583	missense	4154			Y13829	CCDS3163.1, CCDS3164.1, CCDS3165.1, CCDS3166.1, CCDS3167.1, CCDS3168.1, CCDS54656.1	3q25	2013-01-18	2012-02-23	2003-03-14	ENSG00000152601	ENSG00000152601		"Zinc fingers, CCCH-type domain containing"	6923	protein-coding gene	gene with protein product		606516	"muscleblind (Drosophila)-like", "muscleblind-like (Drosophila)"	MBNL			Standard	NM_021038		Approved	KIAA0428, EXP42, EXP40, EXP35, EXP	uc003ezm.3	Q9NR56	OTTHUMG00000159163	ENST00000463374.1:c.224T>C	chr3.hg19:g.152132779T>C	ENSP00000418108:p.Leu75Ser		E9PBW7|O43311|O43797|Q86UV8|Q86UV9|Q96P92|Q96RE3	Missense_Mutation	SNP	ENST00000463374.1	hg19	CCDS3165.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	29.3|29.3	4.997318|4.997318	0.93167|0.93167	.|.	.|.	ENSG00000152601|ENSG00000152601	ENST00000282486;ENST00000282488;ENST00000355460;ENST00000493459;ENST00000324210;ENST00000459747;ENST00000498502;ENST00000324196;ENST00000545754;ENST00000357472;ENST00000485910;ENST00000463374;ENST00000465907;ENST00000492948;ENST00000485509|ENST00000464596	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.46451|.	0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87|.	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	D|.	0.83968|.	0.5369|.	M|M	0.89904|0.89904	3.07|3.07	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|.	0.996;0.999;0.994;0.998;0.999;0.992;0.998;1.0|.	D|.	0.87138|.	0.2201|.	10|.	0.87932|.	D|.	0|.	-6.3313|-6.3313	16.1606|16.1606	0.81704|0.81704	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	75;75;75;75;75;18;75;75|.	E9PBW7;Q9NR56-3;Q96RE3;Q9NR56;Q86UV8;Q86VM6;Q9NR56-2;Q96P92|.	.;.;.;MBNL1_HUMAN;.;.;.;.|.	S|Q	75;75;75;18;75;19;75;75;75;75;75;75;75;75;75|74	ENSP00000282486:L75S;ENSP00000282488:L75S;ENSP00000347637:L75S;ENSP00000419347:L18S;ENSP00000319429:L75S;ENSP00000417169:L19S;ENSP00000420327:L75S;ENSP00000319374:L75S;ENSP00000437491:L75S;ENSP00000350064:L75S;ENSP00000418427:L75S;ENSP00000418108:L75S;ENSP00000417630:L75S;ENSP00000420103:L75S;ENSP00000418876:L75S|.	ENSP00000282486:L75S|.	L|X	+|+	2|1	0|0	MBNL1|MBNL1	153615469|153615469	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	7.930000|7.930000	0.87610|0.87610	2.227000|2.227000	0.72691|0.72691	0.460000|0.460000	0.39030|0.39030	TTA|TAA		0.433	MBNL1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353604.1	NM_021038		C	152132779	T	C	152132779	3	2	795	1	0	0	0	0	1	0	0	0	9355	1764	61	3	230	3	MBNL1	3	152132779	Missense_Mutation	SNP	T	TCGA-SX-A7SS-01A-11D-A35Z-10	54821313	152132779	45889651	25	47368											
TNFSF10	8743	hgsc.bcm.edu	37	3	172224318	172224318	+	Silent	SNP	A	A	G			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr3:172224318A>G	ENST00000241261.2	-	5	932	c.810T>C	c.(808-810)caT>caC	p.H270H	TNFSF10_ENST00000420541.2_3'UTR	NM_003810.3	NP_003801.1	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily, member 10	270					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|male gonad development (GO:0008584)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to insulin (GO:0032868)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|receptor binding (GO:0005102)			breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			AACTGGCTTCATGGTCCATGT	0.368																																																0													70	67	68					3																	172224318		2203	4300	6503	SO:0001819	synonymous_variant	8743			U37518	CCDS3219.1, CCDS54680.1	3q26	2006-09-20			ENSG00000121858	ENSG00000121858		"Tumor necrosis factor (ligand) superfamily", "CD molecules"	11925	protein-coding gene	gene with protein product		603598				8777713, 8663110	Standard	NM_003810		Approved	TRAIL, Apo-2L, TL2, CD253	uc003fid.3	P50591	OTTHUMG00000156917	ENST00000241261.2:c.810T>C	chr3.hg19:g.172224318A>G			A1Y9B3	Silent	SNP	ENST00000241261.2	hg19	CCDS3219.1																																																																																				0.368	TNFSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346601.1			G	172224318	A	G	172224318	2	3	795	1	0	0	0	0	0	0	0	1	16306	214	8	3		3	TNFSF10	3	172224318	Silent	SNP	A	TCGA-SX-A7SS-01A-11D-A35Z-10	20091539	172224318	25798112	26	47369											
EHHADH	1962	hgsc.bcm.edu	37	3	184947277	184947277	+	Missense_Mutation	SNP	T	T	C			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr3:184947277T>C	ENST00000231887.3	-	4	481	c.406A>G	c.(406-408)Acc>Gcc	p.T136A	EHHADH_ENST00000475987.1_5'UTR|EHHADH_ENST00000456310.1_Missense_Mutation_p.T40A	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	136	Enoyl-CoA hydratase / isomerase.				fatty acid beta-oxidation (GO:0006635)|internal protein amino acid acetylation (GO:0006475)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|coenzyme binding (GO:0050662)|dodecenoyl-CoA delta-isomerase activity (GO:0004165)|enoyl-CoA hydratase activity (GO:0004300)|enzyme binding (GO:0019899)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)			AGAAGCTGGGTTCCTCTTGCA	0.468																																																0													97	85	89					3																	184947277		2203	4300	6503	SO:0001583	missense	1962			L07077	CCDS33901.1, CCDS54694.1	3q26.3-q28	2012-07-13	2010-04-30		ENSG00000113790	ENSG00000113790	4.2.1.17, 1.1.1.35, 5.3.3.8		3247	protein-coding gene	gene with protein product		607037	"enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase"	ECHD		8188243	Standard	NM_001966		Approved		uc003fpf.3	Q08426	OTTHUMG00000156698	ENST00000231887.3:c.406A>G	chr3.hg19:g.184947277T>C	ENSP00000231887:p.Thr136Ala		A8K6Y3|B4DWG3|D3DNU0|Q58EZ5	Missense_Mutation	SNP	ENST00000231887.3	hg19	CCDS33901.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.239203	0.79800	.	.	ENSG00000113790	ENST00000537544;ENST00000231887;ENST00000456310	T;T	0.73897	-0.79;-0.79	6.07	4.9	0.64082	Crotonase, core (1);	0.135951	0.64402	D	0.000003	T	0.80939	0.4720	M	0.88031	2.925	0.80722	D	1	P	0.49559	0.925	P	0.46510	0.519	D	0.83620	0.0139	10	0.87932	D	0	-17.9369	11.8215	0.52240	0.1316:0.0:0.0:0.8684	.	136	Q08426	ECHP_HUMAN	A	136;136;40	ENSP00000231887:T136A;ENSP00000387746:T40A	ENSP00000231887:T136A	T	-	1	0	EHHADH	186429971	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.466000	0.60148	1.086000	0.41228	0.528000	0.53228	ACC		0.468	EHHADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345326.1			C	184947277	T	C	184947277	3	2	795	1	0	0	0	0	1	0	0	0	4984	1725	60	3	1781	3	EHHADH	3	184947277	Missense_Mutation	SNP	T	TCGA-SX-A7SS-01A-11D-A35Z-10	12722959	184947277	13075153	27	47370											
TMEM156	80008	hgsc.bcm.edu	37	4	38990469	38990469	+	Splice_Site	SNP	A	A	C			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr4:38990469A>C	ENST00000381938.3	-	4	847		c.e4+1			NM_024943.1	NP_079219.1	Q8N614	TM156_HUMAN	transmembrane protein 156							integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						GATTATACTTACTCTGCCACT	0.358																																																0													156	157	157					4																	38990469		2203	4300	6503	SO:0001630	splice_region_variant	80008			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.739+1T>G	chr4.hg19:g.38990469A>C			Q9H5N9	Splice_Site	SNP	ENST00000381938.3	hg19	CCDS3448.1	.	.	.	.	.	.	.	.	.	.	A	11.88	1.771644	0.31320	.	.	ENSG00000121895	ENST00000381938	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9433	0.52913	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TMEM156	38666864	1.000000	0.71417	1.000000	0.80357	0.171000	0.22731	4.188000	0.58351	2.317000	0.78254	0.459000	0.35465	.		0.358	TMEM156-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250435.3	NM_024943	Intron	C	38990469	A	C	38990469	5	2	795	1	0	0	0	0	0	0	1	0	16078	405	14	5	161	5	TMEM156	4	38990469	Splice_Site	SNP	A	TCGA-SX-A7SS-01A-11D-A35Z-10		38990469	152163807	28	47371											
RASGEF1B	153020	hgsc.bcm.edu	37	4	82369435	82369435	+	Missense_Mutation	SNP	T	T	C			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr4:82369435T>C	ENST00000264400.2	-	5	593	c.442A>G	c.(442-444)Aca>Gca	p.T148A	RASGEF1B_ENST00000509081.1_Splice_Site_p.T147A|RASGEF1B_ENST00000335927.7_Splice_Site_p.T106A	NM_152545.1	NP_689758.1	Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	148	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	endosome (GO:0005768)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						TTTCTGTATGTCTGCTAGGGA	0.473																																																0													117	106	110					4																	82369435		2203	4300	6503	SO:0001583	missense	153020			AK056257	CCDS34022.1, CCDS75151.1, CCDS75152.1	4q21.21	2013-09-24				ENSG00000138670			24881	protein-coding gene	gene with protein product		614532				12488504	Standard	XM_005262776		Approved	GPIG4, FLJ31695	uc003hmi.1	Q0VAM2		ENST00000264400.2:c.442A>G	chr4.hg19:g.82369435T>C	ENSP00000264400:p.Thr148Ala		Q0VAM1|Q4W5L7|Q4W5M3|Q96MY8	Missense_Mutation	SNP	ENST00000264400.2	hg19	CCDS34022.1	.	.	.	.	.	.	.	.	.	.	T	5.620	0.299156	0.10622	.	.	ENSG00000138670	ENST00000509081;ENST00000264400;ENST00000335927	T;T;T	0.28069	1.63;1.63;1.63	5.31	2.9	0.33743	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (2);	0.421187	0.27735	N	0.018077	T	0.13970	0.0338	N	0.11560	0.145	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.09552	-1.0669	10	0.12430	T	0.62	.	9.1866	0.37174	0.0:0.1481:0.0:0.8519	.	106;147;148	Q0VAM2-2;Q0VAM2-3;Q0VAM2	.;.;RGF1B_HUMAN	A	147;148;106	ENSP00000425393:T147A;ENSP00000264400:T148A;ENSP00000338437:T106A	ENSP00000264400:T148A	T	-	1	0	RASGEF1B	82588459	0.997000	0.39634	0.997000	0.53966	0.918000	0.54935	0.682000	0.25335	0.489000	0.27749	0.482000	0.46254	ACA		0.473	RASGEF1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362830.1	NM_152545		C	82369435	T	C	82369435	3	2	795	1	0	0	0	0	1	0	0	0	13076	1667	58	3	1019	3	RASGEF1B	4	82369435	Missense_Mutation	SNP	T	TCGA-SX-A7SS-01A-11D-A35Z-10	43378966	82369435	108784841	29	47372											
WDFY3	23001	hgsc.bcm.edu	37	4	85731169	85731169	+	Nonsense_Mutation	SNP	G	G	T	rs79515377		TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr4:85731169G>T	ENST00000295888.4	-	14	2623	c.2216C>A	c.(2215-2217)tCa>tAa	p.S739*	WDFY3-AS1_ENST00000510449.1_RNA|WDFY3_ENST00000322366.6_Nonsense_Mutation_p.S739*	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	739					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)		CTGTGTATTTGAGGGGAAGAC	0.388																																																0													155	149	151					4																	85731169		2203	4300	6503	SO:0001587	stop_gained	23001			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.2216C>A	chr4.hg19:g.85731169G>T	ENSP00000295888:p.Ser739*		Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Nonsense_Mutation	SNP	ENST00000295888.4	hg19	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	G	43	10.432204	0.99404	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	.	.	.	X	739	.	ENSP00000295888:S739X	S	-	2	0	WDFY3	85950193	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	9.338000	0.96553	2.885000	0.99019	0.655000	0.94253	TCA		0.388	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		T	85731169	G	T	85731169	4	4	795	1	0	0	0	0	0	1	0	0	17275	1294	45	4	8627	4	WDFY3	4	85731169	Nonsense_Mutation	SNP	G	TCGA-SX-A7SS-01A-11D-A35Z-10	3361734	85731169	105423107	30	47373											
ANK2	287	hgsc.bcm.edu	37	4	114153415	114153415	+	Splice_Site	SNP	G	G	A			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr4:114153415G>A	ENST00000357077.4	+	5	536	c.483G>A	c.(481-483)gaG>gaA	p.E161E	ANK2_ENST00000264366.6_Splice_Site_p.E161E|ANK2_ENST00000506722.1_Splice_Site_p.E140E|ANK2_ENST00000394537.3_Splice_Site_p.E161E	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	161					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)		CTGCTACAGAGGTAAGACTGT	0.373																																																0													108	99	102					4																	114153415		2203	4300	6503	SO:0001630	splice_region_variant	287			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.483+1G>A	chr4.hg19:g.114153415G>A			Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	hg19	CCDS3702.1																																																																																				0.373	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148	Silent	A	114153415	G	A	114153415	5	1	795	1	0	0	0	0	0	0	1	0	621	1014	35	2	526	2	ANK2	4	114153415	Splice_Site	SNP	G	TCGA-SX-A7SS-01A-11D-A35Z-10	28422246	114153415	77000861	31	47374											
CCNA2	890	hgsc.bcm.edu	37	4	122740067	122740067	+	Splice_Site	SNP	A	A	C			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr4:122740067A>C	ENST00000274026.5	-	6	1307	c.1004T>G	c.(1003-1005)tTt>tGt	p.F335C		NM_001237.3	NP_001228	P20248	CCNA2_HUMAN	cyclin A2	335					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|organ regeneration (GO:0031100)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|response to estradiol (GO:0032355)|response to glucagon (GO:0033762)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	12						TTCTCCCAAAAACTGGAATAA	0.383																																																0													65	66	66					4																	122740067		2203	4300	6503	SO:0001630	splice_region_variant	890				CCDS3723.1	4q27	2012-07-12			ENSG00000145386	ENSG00000145386			1578	protein-coding gene	gene with protein product		123835		CCNA, CCN1		1675006	Standard	NM_001237		Approved		uc003iec.4	P20248	OTTHUMG00000133072	ENST00000274026.5:c.1003-1T>G	chr4.hg19:g.122740067A>C			A8K7B6|Q2M3U6|Q4W5P4|Q6LER8	Missense_Mutation	SNP	ENST00000274026.5	hg19	CCDS3723.1	.	.	.	.	.	.	.	.	.	.	A	18.32	3.598714	0.66332	.	.	ENSG00000145386	ENST00000274026	T	0.26067	1.76	6.02	6.02	0.97574	Cyclin, C-terminal (1);Cyclin-like (3);	0.226591	0.47455	D	0.000226	T	0.58104	0.2099	M	0.91768	3.24	0.54753	D	0.999987	D	0.89917	1.0	D	0.85130	0.997	T	0.67019	-0.5776	10	0.87932	D	0	.	11.3618	0.49648	0.8331:0.0:0.0:0.1669	.	335	P20248	CCNA2_HUMAN	C	335	ENSP00000274026:F335C	ENSP00000274026:F335C	F	-	2	0	CCNA2	122959517	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	3.008000	0.49544	2.311000	0.77944	0.533000	0.62120	TTT		0.383	CCNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256712.2	NM_001237	Missense_Mutation	C	122740067	A	C	122740067	5	2	795	1	0	0	0	0	0	0	1	0	2912	28	1	5	306	5	CCNA2	4	122740067	Splice_Site	SNP	A	TCGA-SX-A7SS-01A-11D-A35Z-10	8586652	122740067	68414209	32	47375											
ZNF827	152485	hgsc.bcm.edu	37	4	146686704	146686704	+	Missense_Mutation	SNP	T	T	C			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr4:146686704T>C	ENST00000508784.1	-	12	3274	c.3047A>G	c.(3046-3048)gAg>gGg	p.E1016G	ZNF827_ENST00000513320.1_Missense_Mutation_p.E666G|ZNF827_ENST00000379448.4_Missense_Mutation_p.E1016G			Q17R98	ZN827_HUMAN	zinc finger protein 827	1016					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					CTTACCTTTCTCTGGCTTTTC	0.537																																																0													72	65	67					4																	146686704		2203	4300	6503	SO:0001583	missense	152485			AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"Zinc fingers, C2H2-type"	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.3047A>G	chr4.hg19:g.146686704T>C	ENSP00000421863:p.Glu1016Gly		B7ZL52|Q7Z4S7|Q8N279	Missense_Mutation	SNP	ENST00000508784.1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.48|19.48	3.834667|3.834667	0.71373|0.71373	.|.	.|.	ENSG00000151612|ENSG00000151612	ENST00000508784;ENST00000513320;ENST00000379448;ENST00000281318;ENST00000440280|ENST00000511659	T;T;T|.	0.64260|.	-0.09;-0.09;-0.09|.	5.81|5.81	5.81|5.81	0.92471|0.92471	.|.	0.143012|.	0.64402|.	D|.	0.000006|.	T|T	0.53318|0.53318	0.1789|0.1789	N|N	0.24115|0.24115	0.695|0.695	0.58432|0.58432	D|D	0.999996|0.999996	B;P;P;P|.	0.38711|.	0.361;0.455;0.59;0.643|.	B;B;B;B|.	0.38921|.	0.187;0.091;0.187;0.285|.	T|T	0.50074|0.50074	-0.8870|-0.8870	10|5	0.54805|.	T|.	0.06|.	-20.6979|-20.6979	16.1519|16.1519	0.81629|0.81629	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	666;1016;1016;666|.	G5E9Z1;Q17R98;Q17R98-2;E7ESI8|.	.;ZN827_HUMAN;.;.|.	G|G	1016;666;1016;1015;666|117	ENSP00000421863:E1016G;ENSP00000423130:E666G;ENSP00000368761:E1016G|.	ENSP00000281318:E1015G|.	E|R	-|-	2|1	0|2	ZNF827|ZNF827	146906154|146906154	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	7.168000|7.168000	0.77570|0.77570	2.216000|2.216000	0.71823|0.71823	0.533000|0.533000	0.62120|0.62120	GAG|AGA		0.537	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000364654.2	NM_178835		C	146686704	T	C	146686704	3	2	795	1	0	0	0	0	1	0	0	0	18185	1551	54	3	194	3	ZNF827	4	146686704	Missense_Mutation	SNP	T	TCGA-SX-A7SS-01A-11D-A35Z-10	23946637	146686704	44467572	33	47376											
SLC45A2	51151	hgsc.bcm.edu	37	5	33954590	33954590	+	Nonsense_Mutation	SNP	A	A	T			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr5:33954590A>T	ENST00000296589.4	-	4	1054	c.908T>A	c.(907-909)tTa>tAa	p.L303*	SLC45A2_ENST00000509381.1_Silent_p.I194I|SLC45A2_ENST00000382102.3_Nonsense_Mutation_p.L303*|SLC45A2_ENST00000345083.5_Nonsense_Mutation_p.L195*|SLC45A2_ENST00000342059.3_Nonsense_Mutation_p.L244*	NM_016180.3	NP_057264	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	303					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						CAGTGACTTTAATGTCATTGC	0.493																																					Ovarian(31;380 859 8490 22203 49048)											0													183	138	154					5																	33954590		2203	4300	6503	SO:0001587	stop_gained	51151			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.908T>A	chr5.hg19:g.33954590A>T	ENSP00000296589:p.Leu303*		Q6P2P0|Q9BTM3	Nonsense_Mutation	SNP	ENST00000296589.4	hg19	CCDS3901.1	.	.	.	.	.	.	.	.	.	.	A	33	5.261044	0.95368	.	.	ENSG00000164175	ENST00000296589;ENST00000342059;ENST00000382102;ENST00000510600;ENST00000345083	.	.	.	5.85	5.85	0.93711	.	0.356296	0.35320	N	0.003295	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	-14.0922	16.2291	0.82321	1.0:0.0:0.0:0.0	.	.	.	.	X	303;244;303;128;195	.	ENSP00000296589:L303X	L	-	2	0	SLC45A2	33990347	1.000000	0.71417	1.000000	0.80357	0.375000	0.29983	8.710000	0.91388	2.238000	0.73509	0.528000	0.53228	TTA		0.493	SLC45A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207443.2	NM_016180		T	33954590	A	T	33954590	4	4	795	1	0	0	0	0	0	1	0	0	14647	372	13	5	715	5	SLC45A2	5	33954590	Nonsense_Mutation	SNP	A	TCGA-SX-A7SS-01A-11D-A35Z-10		33954590	146960670	34	47377											
DAB2	1601	hgsc.bcm.edu	37	5	39383191	39383191	+	Silent	SNP	A	A	G			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr5:39383191A>G	ENST00000320816.6	-	10	1337	c.870T>C	c.(868-870)ccT>ccC	p.P290P	DAB2_ENST00000339788.6_Intron|DAB2_ENST00000509337.1_Silent_p.P269P|DAB2_ENST00000512525.1_5'Flank|DAB2_ENST00000545653.1_Silent_p.P269P	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	290	Required for localization to clathrin- coated pits. {ECO:0000250}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			GATCAGGATTAGGGGTGGGAA	0.473																																																0													142	148	146					5																	39383191		2203	4300	6503	SO:0001819	synonymous_variant	1601			U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071			2662	protein-coding gene	gene with protein product		601236	"disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)", "disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)"			8660969, 9620555	Standard	NM_001343		Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.870T>C	chr5.hg19:g.39383191A>G			A6NES5|Q13598|Q9BTY0|Q9UK04	Silent	SNP	ENST00000320816.6	hg19	CCDS34149.1																																																																																				0.473	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367014.1	NM_001343		G	39383191	A	G	39383191	2	3	795	1	0	0	0	0	0	0	0	1	4220	407	15	3		3	DAB2	5	39383191	Silent	SNP	A	TCGA-SX-A7SS-01A-11D-A35Z-10	5428601	39383191	141532069	35	47378											
ELL2	22936	hgsc.bcm.edu	37	5	95234239	95234240	+	Frame_Shift_Ins	INS	-	-	AGGTCTTG			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr5:95234239_95234240insAGGTCTTG	ENST00000237853.4	-	8	1578_1579	c.1229_1230insCAAGACCT	c.(1228-1230)ctafs	p.-410fs	ELL2_ENST00000431061.2_Frame_Shift_Ins_p.-160fs	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2						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)		TGTCAACAGGTAGGTCTTGAGT	0.485																																																0																																										SO:0001589	frameshift_variant	22936			U88629	CCDS4080.1	5q15	2010-11-29			ENSG00000118985	ENSG00000118985			17064	protein-coding gene	gene with protein product		601874				9108030	Standard	NM_012081		Approved		uc003klr.4	O00472	OTTHUMG00000122085	ENST00000237853.4:c.1222_1229dupCAAGACCT	chr5.hg19:g.95234240_95234247dupAGGTCTTG	ENSP00000237853:p.Leu410fs		B4DNK7	Frame_Shift_Ins	INS	ENST00000237853.4	hg19	CCDS4080.1																																																																																				0.485	ELL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242846.1	NM_012081		AGGTCTTG	95234240	-	AGGTCTTG	95234239	7	5	795	1	0	1	1	0	0	0	0	0	5065	1625	57	0	712	0	ELL2	5	95234239	Frame_Shift_Ins	INS	-	TCGA-SX-A7SS-01A-11D-A35Z-10	55851048	95234239	85681021	36	47379											
FTMT	94033	hgsc.bcm.edu	37	5	121187742	121187742	+	Silent	SNP	C	C	A			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr5:121187742C>A	ENST00000321339.1	+	1	93	c.84C>A	c.(82-84)ctC>ctA	p.L28L		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	28					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)			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)		GCTTCGCGCTCCCGCTGCGTT	0.751																																																0													11	13	13					5																	121187742		2194	4277	6471	SO:0001819	synonymous_variant	94033			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.84C>A	chr5.hg19:g.121187742C>A				Silent	SNP	ENST00000321339.1	hg19	CCDS4128.1																																																																																				0.751	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250884.1	NM_177478		A	121187742	C	A	121187742	2	1	795	1	0	0	0	0	0	0	0	1	6087	842	30	4		4	FTMT	5	121187742	Silent	SNP	C	TCGA-SX-A7SS-01A-11D-A35Z-10	25953503	121187742	59727518	37	47380											
SLC23A1	9963	hgsc.bcm.edu	37	5	138716053	138716054	+	Frame_Shift_Ins	INS	-	-	T			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr5:138716053_138716054insT	ENST00000348729.3	-	6	536_537	c.490_491insA	c.(490-492)agcfs	p.S164fs	SLC23A1_ENST00000503919.1_5'Flank|SLC23A1_ENST00000353963.3_Frame_Shift_Ins_p.S168fs	NM_005847.4	NP_005838	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 1	164					brain development (GO:0007420)|dehydroascorbic acid transport (GO:0070837)|L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|lung development (GO:0030324)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|brush border (GO:0005903)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular organelle (GO:0043229)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dehydroascorbic acid transporter activity (GO:0033300)|L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium ion transmembrane transporter activity (GO:0015081)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	CTCCACCACGCTGGACACCATG	0.584																																																0																																										SO:0001589	frameshift_variant	9963			AF058317	CCDS4212.1, CCDS4213.1	5q31.2	2013-07-18	2013-07-18	2003-03-21	ENSG00000170482	ENSG00000170482		"Solute carriers"	10974	protein-coding gene	gene with protein product		603790	"solute carrier family 23 (nucleobase transporters), member 2"	SLC23A2		9804989, 10331392	Standard	NM_005847		Approved	YSPL3, SVCT1	uc003leg.3	Q9UHI7	OTTHUMG00000129228	ENST00000348729.3:c.491dupA	chr5.hg19:g.138716054_138716054dupT	ENSP00000302701:p.Ser164fs		O95191|Q8WWB6|Q9UGH4|Q9UI39	Frame_Shift_Ins	INS	ENST00000348729.3	hg19	CCDS4212.1																																																																																				0.584	SLC23A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374185.1	NM_152685		T	138716054	-	T	138716053	7	5	795	1	0	1	1	0	0	0	0	0	14468	797	28	0	1341	0	SLC23A1	5	138716053	Frame_Shift_Ins	INS	-	TCGA-SX-A7SS-01A-11D-A35Z-10	17528311	138716053	42199207	38	47381											
PCDHGB3	56102	hgsc.bcm.edu	37	5	140751854	140751854	+	Silent	SNP	C	C	A			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr5:140751854C>A	ENST00000576222.1	+	1	2024	c.1893C>A	c.(1891-1893)acC>acA	p.T631T	PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_5'Flank|PCDHGB1_ENST00000523390.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	631	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGCGCGTACCTTGGGCGACA	0.667																																																0													37	42	41					5																	140751854		2147	4254	6401	SO:0001819	synonymous_variant	56102			AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.1893C>A	chr5.hg19:g.140751854C>A			A7E229|Q9Y5C7	Silent	SNP	ENST00000576222.1	hg19	CCDS58980.1																																																																																				0.667	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		A	140751854	C	A	140751854	2	1	795	1	0	0	0	0	0	0	0	1	11566	668	24	4		4	PCDHGB3	5	140751854	Silent	SNP	C	TCGA-SX-A7SS-01A-11D-A35Z-10	2035801	140751854	40163406	39	47382											
WWC1	23286	hgsc.bcm.edu	37	5	167812372	167812372	+	Missense_Mutation	SNP	A	A	T			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr5:167812372A>T	ENST00000265293.4	+	3	888	c.386A>T	c.(385-387)cAg>cTg	p.Q129L	WWC1_ENST00000521089.1_Missense_Mutation_p.Q129L	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	129					cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		CAGGAGTACCAGCAACTGCAT	0.592																																																0													84	86	85					5																	167812372		2203	4300	6503	SO:0001583	missense	23286			AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"WW, C2 and coiled-coil domain containing"	29435	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 168"	610533	"WW, C2 and coiled-coil domain containing 1"			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.386A>T	chr5.hg19:g.167812372A>T	ENSP00000265293:p.Gln129Leu		B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Missense_Mutation	SNP	ENST00000265293.4	hg19	CCDS4366.1	.	.	.	.	.	.	.	.	.	.	A	13.16	2.154225	0.38021	.	.	ENSG00000113645	ENST00000265293;ENST00000521089	T;T	0.05580	3.42;3.42	5.62	3.3	0.37823	.	0.091306	0.43579	D	0.000560	T	0.03783	0.0107	N	0.24115	0.695	0.34096	D	0.661339	B;B;B	0.26147	0.143;0.007;0.005	B;B;B	0.29077	0.098;0.013;0.01	T	0.31280	-0.9949	10	0.08599	T	0.76	.	5.7876	0.18343	0.6246:0.0:0.3754:0.0	.	129;35;129	Q8IX03-2;B3KX05;Q8IX03	.;.;KIBRA_HUMAN	L	129	ENSP00000265293:Q129L;ENSP00000427772:Q129L	ENSP00000265293:Q129L	Q	+	2	0	WWC1	167744950	0.998000	0.40836	0.999000	0.59377	0.903000	0.53119	1.318000	0.33643	0.985000	0.38656	0.459000	0.35465	CAG		0.592	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	NM_015238		T	167812372	A	T	167812372	3	4	795	1	0	0	0	0	1	0	0	0	17416	188	7	5	396	5	WWC1	5	167812372	Missense_Mutation	SNP	A	TCGA-SX-A7SS-01A-11D-A35Z-10	27060518	167812372	13102888	40	47383											
MCM3	4172	hgsc.bcm.edu	37	6	52141273	52141273	+	Splice_Site	SNP	T	T	A			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr6:52141273T>A	ENST00000229854.7	-	9	1243	c.1167A>T	c.(1165-1167)ggA>ggT	p.G389G	MCM3_ENST00000596288.1_Splice_Site_p.G434G|MCM3_ENST00000476448.1_5'UTR|MCM3_ENST00000419835.2_Splice_Site_p.G343G			P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	389	MCM.				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)	alpha DNA polymerase:primase complex (GO:0005658)|centrosome (GO:0005813)|intracellular membrane-bounded organelle (GO:0043231)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					GACGGCGCTCTCCTGGGAAGT	0.507																																																0													43	40	41					6																	52141273		2203	4300	6503	SO:0001630	splice_region_variant	4172			X62153	CCDS4940.1, CCDS4940.2, CCDS75468.1	6p12	2008-02-05	2007-04-04		ENSG00000112118	ENSG00000112118			6945	protein-coding gene	gene with protein product		602693	"minichromosome maintenance deficient (S. cerevisiae) 3", "MCM3 minichromosome maintenance deficient 3 (S. cerevisiae)"			1549468	Standard	NM_002388		Approved		uc011dwu.2	P25205	OTTHUMG00000014844	ENST00000229854.7:c.1166-1A>T	chr6.hg19:g.52141273T>A			B4DWW4|Q92660|Q9BTR3|Q9NUE7	Silent	SNP	ENST00000229854.7	hg19																																																																																					0.507	MCM3-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470784.1		Silent	A	52141273	T	A	52141273	5	1	795	1	0	0	0	0	0	0	1	0	9389	1565	54	5	1295	5	MCM3	6	52141273	Splice_Site	SNP	T	TCGA-SX-A7SS-01A-11D-A35Z-10		52141273	118973794	41	47384											
KIAA1586	57691	hgsc.bcm.edu	37	6	56917572	56917572	+	Missense_Mutation	SNP	A	A	C			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr6:56917572A>C	ENST00000370733.4	+	4	482	c.275A>C	c.(274-276)gAa>gCa	p.E92A	KIAA1586_ENST00000488682.1_3'UTR|KIAA1586_ENST00000545356.1_Missense_Mutation_p.E65A	NM_020931.2	NP_065982.1	Q9HCI6	K1586_HUMAN	KIAA1586	92							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)			GAAAATAATGAAGTGAGCAAA	0.333																																																0													69	69	69					6																	56917572		2203	4300	6503	SO:0001583	missense	57691			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.275A>C	chr6.hg19:g.56917572A>C	ENSP00000359768:p.Glu92Ala		A8K4M3|Q8IW25	Missense_Mutation	SNP	ENST00000370733.4	hg19	CCDS34480.1	.	.	.	.	.	.	.	.	.	.	a	10.12	1.262690	0.23051	.	.	ENSG00000168116	ENST00000370733;ENST00000545356	T;T	0.32988	1.44;1.43	3.87	1.41	0.22369	.	.	.	.	.	T	0.05135	0.0137	N	0.08118	0	0.09310	N	1	B;B	0.12630	0.006;0.006	B;B	0.14023	0.01;0.01	T	0.38478	-0.9659	9	0.62326	D	0.03	.	5.6065	0.17383	0.7671:0.0:0.2329:0.0	.	65;92	F5H2N6;Q9HCI6	.;K1586_HUMAN	A	92;65	ENSP00000359768:E92A;ENSP00000445507:E65A	ENSP00000359768:E92A	E	+	2	0	KIAA1586	57025531	0.182000	0.23173	0.000000	0.03702	0.064000	0.16182	1.360000	0.34125	0.183000	0.20059	0.383000	0.25322	GAA		0.333	KIAA1586-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041033.1	NM_020931		C	56917572	A	C	56917572	3	2	795	1	0	0	0	0	1	0	0	0	8247	246	9	5	289	5	KIAA1586	6	56917572	Missense_Mutation	SNP	A	TCGA-SX-A7SS-01A-11D-A35Z-10	4776299	56917572	114197495	42	47385											
HBS1L	10767	hgsc.bcm.edu	37	6	135358037	135358037	+	Intron	SNP	G	G	C			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr6:135358037G>C	ENST00000367837.5	-	4	637				HBS1L_ENST00000367820.2_Intron|HBS1L_ENST00000314674.3_Intron|HBS1L_ENST00000415177.2_Intron|HBS1L_ENST00000367822.5_Missense_Mutation_p.L520V|HBS1L_ENST00000445176.2_Intron|HBS1L_ENST00000367826.2_Intron|HBS1L_ENST00000367824.4_Intron	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like translational GTPase						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)	p.L520L(1)		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)		TTTGAACTTAGAACTTTAGTT	0.368																																																1	Substitution - coding silent(1)	endometrium(1)											45	41	42					6																	135358037		692	1591	2283	SO:0001627	intron_variant	10767			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.430+2673C>G	chr6.hg19:g.135358037G>C			B7Z365|Q4VX89|Q4VX90|Q5T7G3|Q8NDW9|Q9UPW3	Missense_Mutation	SNP	ENST00000367837.5	hg19	CCDS5173.1	.	.	.	.	.	.	.	.	.	.	G	2.970	-0.212719	0.06140	.	.	ENSG00000112339	ENST00000367822	.	.	.	5.32	-2.6	0.06190	.	.	.	.	.	T	0.20047	0.0482	.	.	.	0.43885	D	0.996509	B	0.12630	0.006	B	0.16289	0.015	T	0.19647	-1.0299	7	0.59425	D	0.04	.	0.8108	0.01093	0.2713:0.3313:0.174:0.2234	.	520	Q9Y450-2	.	V	520	.	ENSP00000356796:L520V	L	-	1	2	HBS1L	135399730	0.010000	0.17322	0.359000	0.25824	0.108000	0.19459	-0.189000	0.09629	-0.497000	0.06641	0.655000	0.94253	CTA		0.368	HBS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042339.2			C	135358037	G	C	135358037	1	2	795	0	1	0	0	0	0	0	0	0	6989	933	33	4		4	HBS1L	6	135358037	Intron	SNP	G	TCGA-SX-A7SS-01A-11D-A35Z-10	78440465	135358037	35757030	43	47386											
PCLO	27445	hgsc.bcm.edu	37	7	82578940	82578940	+	Missense_Mutation	SNP	T	T	G			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr7:82578940T>G	ENST00000333891.9	-	6	11301	c.10964A>C	c.(10963-10965)aAa>aCa	p.K3655T	PCLO_ENST00000423517.2_Missense_Mutation_p.K3655T|PCLO_ENST00000437081.1_Missense_Mutation_p.K375T	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						ATGCAGTACTTTCTGTGGACT	0.473																																																0													188	183	185					7																	82578940		1919	4123	6042	SO:0001583	missense	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.10964A>C	chr7.hg19:g.82578940T>G	ENSP00000334319:p.Lys3655Thr			Missense_Mutation	SNP	ENST00000333891.9	hg19	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	T	11.43	1.635879	0.29068	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.26810	1.71;1.72	5.7	5.7	0.88788	.	.	.	.	.	T	0.50205	0.1602	M	0.72118	2.19	0.39015	D	0.959633	P;D;D	0.76494	0.608;0.999;0.999	B;D;D	0.67382	0.244;0.951;0.951	T	0.56798	-0.7919	9	0.87932	D	0	.	15.9619	0.79936	0.0:0.0:0.0:1.0	.	3586;3655;3655	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	T	3586;3655;3655;375	ENSP00000334319:K3655T;ENSP00000388393:K3655T	ENSP00000334319:K3655T	K	-	2	0	PCLO	82416876	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.689000	0.61723	2.167000	0.68274	0.528000	0.53228	AAA		0.473	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		G	82578940	T	G	82578940	3	3	795	1	0	0	0	0	1	0	0	0	11585	1841	64	5	4561	5	PCLO	7	82578940	Missense_Mutation	SNP	T	TCGA-SX-A7SS-01A-11D-A35Z-10		82578940	76559723	44	47387											
FAM71F2	346653	hgsc.bcm.edu	37	7	128315818	128315818	+	Frame_Shift_Del	DEL	C	C	-			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr7:128315818delC	ENST00000480462.1	+	2	376	c.270delC	c.(268-270)ctcfs	p.L90fs	FAM71F2_ENST00000378704.3_Frame_Shift_Del_p.L81fs|FAM71F2_ENST00000460349.1_3'UTR|FAM71F2_ENST00000477515.1_Frame_Shift_Del_p.L90fs			Q6NXP2	F71F2_HUMAN	family with sequence similarity 71, member F2	90										NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2)	7						CCCTGCCACTCCCCAATGTCC	0.592																																																0													46	46	46					7																	128315818		1942	4148	6090	SO:0001589	frameshift_variant	346653			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.270delC	chr7.hg19:g.128315818delC	ENSP00000420140:p.Leu90fs		Q0VGF6|Q0VGF7|Q86X39	Frame_Shift_Del	DEL	ENST00000480462.1	hg19	CCDS47701.1																																																																																				0.592	FAM71F2-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350537.1			-	128315818	C	-	128315818	7	5	795	1	0	1	0	1	0	0	0	0	5615	842	30	0	276	0	FAM71F2	7	128315818	Frame_Shift_Del	DEL	C	TCGA-SX-A7SS-01A-11D-A35Z-10	45736878	128315818	30822845	45	47388	509	2									
FAM71F2	346653	hgsc.bcm.edu	37	7	128315824	128315824	+	Frame_Shift_Del	DEL	T	T	-			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr7:128315824delT	ENST00000480462.1	+	2	382	c.276delT	c.(274-276)aatfs	p.N92fs	FAM71F2_ENST00000378704.3_Frame_Shift_Del_p.N83fs|FAM71F2_ENST00000460349.1_3'UTR|FAM71F2_ENST00000477515.1_Frame_Shift_Del_p.N92fs			Q6NXP2	F71F2_HUMAN	family with sequence similarity 71, member F2	92										NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2)	7						CACTCCCCAATGTCCTCCTGA	0.602																																																0													48	47	47					7																	128315824		1941	4152	6093	SO:0001589	frameshift_variant	346653			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.276delT	chr7.hg19:g.128315824delT	ENSP00000420140:p.Asn92fs		Q0VGF6|Q0VGF7|Q86X39	Frame_Shift_Del	DEL	ENST00000480462.1	hg19	CCDS47701.1																																																																																				0.602	FAM71F2-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350537.1			-	128315824	T	-	128315824	7	5	795	1	0	1	0	1	0	0	0	0	5615	1461	51	0	282	0	FAM71F2	7	128315824	Frame_Shift_Del	DEL	T	TCGA-SX-A7SS-01A-11D-A35Z-10	6	128315824	30822839	46	47389	509	2									
JHDM1D	80853	hgsc.bcm.edu	37	7	139818990	139818990	+	Frame_Shift_Del	DEL	G	G	-			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr7:139818990delG	ENST00000397560.2	-	9	1266	c.1169delC	c.(1168-1170)acafs	p.T390fs	JHDM1D_ENST00000006967.5_Frame_Shift_Del_p.T390fs	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7A_HUMAN		390					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)					AAGATCTGGTGTTTTTAGCCT	0.308																																																0													132	129	130					7																	139818990		1792	4064	5856	SO:0001589	frameshift_variant	80853																														ENST00000397560.2:c.1169delC	chr7.hg19:g.139818990delG	ENSP00000380692:p.Thr390fs		A4D1S9|C9JJH9|C9JQU2|Q6MZL8|Q9C0E5	Frame_Shift_Del	DEL	ENST00000397560.2	hg19	CCDS43658.1																																																																																				0.308	JHDM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348460.1			-	139818990	G	-	139818990	7	5	795	1	0	1	0	1	0	0	0	0	7950	1377	48	0	1704	0	JHDM1D	7	139818990	Frame_Shift_Del	DEL	G	TCGA-SX-A7SS-01A-11D-A35Z-10	11503166	139818990	19319673	47	47390											
SLC4A2	6522	hgsc.bcm.edu	37	7	150773188	150773188	+	Missense_Mutation	SNP	T	T	C			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr7:150773188T>C	ENST00000485713.1	+	22	4600	c.3560T>C	c.(3559-3561)cTg>cCg	p.L1187P	SLC4A2_ENST00000461735.1_Missense_Mutation_p.L1173P|FASTK_ENST00000489884.1_5'Flank|SLC4A2_ENST00000392826.2_Missense_Mutation_p.L1178P|RP11-148K1.12_ENST00000485974.1_RNA|SLC4A2_ENST00000413384.2_Missense_Mutation_p.L1187P|SLC4A2_ENST00000310317.5_Missense_Mutation_p.L1105P	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	1187	Membrane (anion exchange).				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)		GCTGCCTCCCTGGCCTTCCCC	0.642																																																0													106	100	102					7																	150773188		2203	4300	6503	SO:0001583	missense	6522				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.3560T>C	chr7.hg19:g.150773188T>C	ENSP00000419412:p.Leu1187Pro		B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Missense_Mutation	SNP	ENST00000485713.1	hg19	CCDS5917.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.466972	0.84425	.	.	ENSG00000164889	ENST00000485713;ENST00000413384;ENST00000310317;ENST00000392826;ENST00000461735	T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000009	T	0.80497	0.4634	M	0.82823	2.61	0.80722	D	1	D;D;D	0.89917	0.969;1.0;1.0	P;D;D	0.91635	0.828;0.999;0.997	D	0.83661	0.0161	10	0.87932	D	0	.	14.5667	0.68182	0.0:0.0:0.0:1.0	.	1178;1173;1187	F8W682;P04920-2;P04920	.;.;B3A2_HUMAN	P	1187;1187;1105;1178;1173	ENSP00000419412:L1187P;ENSP00000405600:L1187P;ENSP00000311402:L1105P;ENSP00000376571:L1178P;ENSP00000419164:L1173P	ENSP00000311402:L1105P	L	+	2	0	SLC4A2	150404121	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.125000	0.65367	0.533000	0.62120	CTG		0.642	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1	NM_003040		C	150773188	T	C	150773188	3	2	795	1	0	0	0	0	1	0	0	0	14660	1580	55	3	3642	3	SLC4A2	7	150773188	Missense_Mutation	SNP	T	TCGA-SX-A7SS-01A-11D-A35Z-10	10954198	150773188	8365475	48	47391											
AP3M2	10947	hgsc.bcm.edu	37	8	42015584	42015584	+	Silent	SNP	C	C	T			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr8:42015584C>T	ENST00000518421.1	+	4	690	c.399C>T	c.(397-399)ctC>ctT	p.L133L	AP3M2_ENST00000520685.1_Intron|AP3M2_ENST00000174653.3_Silent_p.L133L|AP3M2_ENST00000517922.1_Silent_p.L133L|AP3M2_ENST00000396926.3_Silent_p.L133L	NM_001134296.1	NP_001127768.1	P53677	AP3M2_HUMAN	adaptor-related protein complex 3, mu 2 subunit	133					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1)	17	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			TTAAAGAACTCATAAAGCCTC	0.458																																																0													150	137	142					8																	42015584		2203	4300	6503	SO:0001819	synonymous_variant	10947			D38293	CCDS6125.1	8p11.2	2008-07-07			ENSG00000070718	ENSG00000070718			570	protein-coding gene	gene with protein product		610469				7601449	Standard	NM_006803		Approved	CLA20, AP47B	uc003xoo.3	P53677	OTTHUMG00000164060	ENST00000518421.1:c.399C>T	chr8.hg19:g.42015584C>T			B2RCR0|D3DSY2|Q7Z472	Silent	SNP	ENST00000518421.1	hg19	CCDS6125.1																																																																																				0.458	AP3M2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376996.1			T	42015584	C	T	42015584	2	4	795	1	0	0	0	0	0	0	0	1	748	813	29	2		2	AP3M2	8	42015584	Silent	SNP	C	TCGA-SX-A7SS-01A-11D-A35Z-10		42015584	104348438	49	47392											
ARMC1	55156	hgsc.bcm.edu	37	8	66517664	66517664	+	Missense_Mutation	SNP	T	T	G	rs561352733		TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr8:66517664T>G	ENST00000276569.3	-	5	819	c.575A>C	c.(574-576)aAa>aCa	p.K192T	ARMC1_ENST00000458464.2_Missense_Mutation_p.K90T	NM_018120.4	NP_060590.1	Q9NVT9	ARMC1_HUMAN	armadillo repeat containing 1	192					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)			TACCTCAGCTTTCAAATCTGA	0.333																																																0													73	74	73					8																	66517664		2203	4300	6503	SO:0001583	missense	55156			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.575A>C	chr8.hg19:g.66517664T>G	ENSP00000276569:p.Lys192Thr		B4E2W7|Q9H018|Q9H820	Missense_Mutation	SNP	ENST00000276569.3	hg19	CCDS6181.1	.	.	.	.	.	.	.	.	.	.	T	14.85	2.659799	0.47572	.	.	ENSG00000104442	ENST00000276569;ENST00000458464	T;T	0.45668	0.89;0.89	5.36	5.36	0.76844	Heavy metal-associated domain, HMA (1);	0.043521	0.85682	D	0.000000	T	0.38161	0.1030	L	0.52573	1.65	0.58432	D	0.999999	B;B	0.31318	0.319;0.087	B;B	0.26416	0.069;0.018	T	0.20240	-1.0281	10	0.39692	T	0.17	.	15.366	0.74523	0.0:0.0:0.0:1.0	.	90;192	B4E2W7;Q9NVT9	.;ARMC1_HUMAN	T	192;90	ENSP00000276569:K192T;ENSP00000388572:K90T	ENSP00000276569:K192T	K	-	2	0	ARMC1	66680218	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.835000	0.69368	2.028000	0.59812	0.454000	0.30748	AAA		0.333	ARMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378480.1	NM_018120		G	66517664	T	G	66517664	3	3	795	1	0	0	0	0	1	0	0	0	949	1841	64	5	285	5	ARMC1	8	66517664	Missense_Mutation	SNP	T	TCGA-SX-A7SS-01A-11D-A35Z-10	24502080	66517664	79846358	50	47393											
TLN1	7094	hgsc.bcm.edu	37	9	35697810	35697810	+	Nonsense_Mutation	SNP	G	G	T			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr9:35697810G>T	ENST00000314888.9	-	57	7957	c.7604C>A	c.(7603-7605)tCa>tAa	p.S2535*	TLN1_ENST00000540444.1_Nonsense_Mutation_p.S2423*	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	2535					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)			TCGAAGCTCTGAAGGCAGAAA	0.552											OREG0019174	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													90	88	89					9																	35697810		2203	4300	6503	SO:0001587	stop_gained	7094			AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.7604C>A	chr9.hg19:g.35697810G>T	ENSP00000316029:p.Ser2535*	857	A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Nonsense_Mutation	SNP	ENST00000314888.9	hg19	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	G	50	16.117539	0.99854	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	.	.	.	5.23	5.23	0.72850	.	0.380728	0.27826	N	0.017689	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.3191	18.9866	0.92773	0.0:0.0:1.0:0.0	.	.	.	.	X	2535;2423	.	ENSP00000316029:S2535X	S	-	2	0	TLN1	35687810	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.629000	0.83207	2.721000	0.93114	0.563000	0.77884	TCA		0.552	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		T	35697810	G	T	35697810	4	4	795	1	0	0	0	0	0	1	0	0	15952	1294	45	4	25	4	TLN1	9	35697810	Nonsense_Mutation	SNP	G	TCGA-SX-A7SS-01A-11D-A35Z-10		35697810	105515621	51	47394											
CREB3	57704	hgsc.bcm.edu	37	9	35736483	35736484	+	IGR	INS	-	-	A			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr9:35736483_35736484insA	ENST00000378103.3	-	0	3611				GBA2_ENST00000467252.1_5'Flank|CREB3_ENST00000486056.1_3'UTR|CREB3_ENST00000353704.2_Frame_Shift_Ins_p.Q293fs	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)			ACAGCACACACCAGTGGTTGGA	0.619											OREG0019176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0																																										SO:0001628	intergenic_variant	10488			AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"bile acid beta-glucosidase", "non-lysosomal glucosylceramidase"	609471	"spastic paraplegia 46 (autosomal recessive)"	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024		chr9.hg19:g.35736483_35736484insA		857	D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Frame_Shift_Ins	INS	ENST00000378103.3	hg19	CCDS6589.1																																																																																				0.619	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944		A	35736484	-	A	35736483	6	5	795	0	1	1	1	0	0	0	0	0	3857	506	18	0		0	CREB3	9	35736483	IGR	INS	-	TCGA-SX-A7SS-01A-11D-A35Z-10	38673	35736483	105476948	52	47395											
SPTLC1	10558	hgsc.bcm.edu	37	9	94821586	94821604	+	Splice_Site	DEL	TATCTCTGCAAGGAAAAGA	TATCTCTGCAAGGAAAAGA	-	rs575148158|rs376271947		TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	TATCTCTGCAAGGAAAAGA	TATCTCTGCAAGGAAAAGA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr9:94821586_94821604delTATCTCTGCAAGGAAAAGA	ENST00000262554.2	-	7	566_570	c.561_565delTCTTTTCCTTGCAGAGATA	c.(559-567)gttcttttc>gttc	p.LF188fs	SPTLC1_ENST00000482632.1_5'UTR	NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	188					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)|SPOTS complex (GO:0035339)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)	p.?(1)		breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)	CAGGCAGCTCTATCTCTGCAAGGAAAAGAGATCCACCAA	0.402																																																1	Unknown(1)	ovary(1)																																								SO:0001630	splice_region_variant	10558			Y08685	CCDS6692.1, CCDS6693.1	9q22.31	2014-09-17	2003-12-02		ENSG00000090054	ENSG00000090054	2.3.1.50		11277	protein-coding gene	gene with protein product		605712	"hereditary sensory neuropathy, type 1"	HSN1		9363775	Standard	NM_006415		Approved	LCB1, SPTI, HSAN1, hLCB1	uc004arl.1	O15269	OTTHUMG00000021047	ENST00000262554.2:c.561-1TCTTTTCCTTGCAGAGATA>-	chr9.hg19:g.94821586_94821604delTATCTCTGCAAGGAAAAGA			A8K681|Q5VWB4|Q96IX6	In_Frame_Del	DEL	ENST00000262554.2	hg19	CCDS6692.1																																																																																				0.402	SPTLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055553.1	NM_006415	Frame_Shift_Del	-	94821604	TATCTCTGCAAGGAAAAGA	-	94821586	8	5	795	1	0	1	0	1	0	0	1	0	15128	1530	53	0	892	0	SPTLC1	9	94821586	Splice_Site	DEL	TATCTCTGCAAGGAAAAGA	TCGA-SX-A7SS-01A-11D-A35Z-10	59085103	94821586	46391845	53	47396											
C9orf3	84909	hgsc.bcm.edu	37	9	97522664	97522664	+	Missense_Mutation	SNP	G	G	C			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr9:97522664G>C	ENST00000375315.2	+	1	599	c.599G>C	c.(598-600)aGg>aCg	p.R200T	C9orf3_ENST00000277198.2_Missense_Mutation_p.R200T|C9orf3_ENST00000297979.5_Missense_Mutation_p.R200T	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	200					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)		AATCGTTGGAGGGAGCAGTTA	0.498																																																0													84	74	77					9																	97522664		2203	4300	6503	SO:0001583	missense	84909			AF043896	CCDS6713.1, CCDS55327.1, CCDS55328.1	9q22	2013-06-27			ENSG00000148120	ENSG00000148120			1361	protein-coding gene	gene with protein product	aminopeptidase O					15687497	Standard	NM_001193329		Approved	C90RF3, FLJ14675, APO, AOPEP, AP-O	uc004ava.3	Q8N6M6	OTTHUMG00000020276	ENST00000375315.2:c.599G>C	chr9.hg19:g.97522664G>C	ENSP00000364464:p.Arg200Thr		Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	Missense_Mutation	SNP	ENST00000375315.2	hg19	CCDS55328.1	.	.	.	.	.	.	.	.	.	.	G	13.25	2.180287	0.38511	.	.	ENSG00000148120	ENST00000277198;ENST00000297979;ENST00000375315;ENST00000427193;ENST00000424143	T;T;T;T;T	0.25912	2.56;2.54;2.75;1.77;2.58	4.69	3.79	0.43588	.	0.205241	0.40818	N	0.001006	T	0.33265	0.0857	L	0.60455	1.87	0.80722	D	1	P;D;P;P	0.62365	0.745;0.991;0.763;0.9	B;P;P;P	0.56434	0.276;0.798;0.463;0.65	T	0.06881	-1.0802	10	0.49607	T	0.09	-17.7167	4.3309	0.11062	0.3002:0.0:0.6998:0.0	.	200;200;200;200	Q8N6M6;Q8N6M6-4;Q8N6M6-2;Q8N6M6-3	AMPO_HUMAN;.;.;.	T	200;200;200;74;23	ENSP00000277198:R200T;ENSP00000297979:R200T;ENSP00000364464:R200T;ENSP00000387736:R74T;ENSP00000402171:R23T	ENSP00000277198:R200T	R	+	2	0	C9orf3	96562485	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	1.756000	0.38390	2.591000	0.87537	0.467000	0.42956	AGG		0.498	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032823		C	97522664	G	C	97522664	3	2	795	1	0	0	0	0	1	0	0	0	2479	1000	35	4	601	4	C9orf3	9	97522664	Missense_Mutation	SNP	G	TCGA-SX-A7SS-01A-11D-A35Z-10	2701078	97522664	43690767	54	47397											
TTLL11	158135	hgsc.bcm.edu	37	9	124751966	124751966	+	Missense_Mutation	SNP	G	G	C			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr9:124751966G>C	ENST00000373776.3	-	4	1234	c.1047C>G	c.(1045-1047)atC>atG	p.I349M	TTLL11_ENST00000321582.5_Missense_Mutation_p.I349M|TTLL11_ENST00000474723.1_5'UTR	NM_194252.2	NP_919228.2	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	349	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						TAATGAGGTAGATTCCATCAC	0.532																																																0													113	121	118					9																	124751966		2203	4300	6503	SO:0001583	missense	158135			AF521886	CCDS6834.2, CCDS48012.1	9q34.11	2013-02-14	2005-07-28	2005-07-28	ENSG00000175764	ENSG00000175764		"Tubulin tyrosine ligase-like family"	18113	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 20"	C9orf20		15890843	Standard	NM_001139442		Approved	bA244O19.1	uc011lyl.2	Q8NHH1	OTTHUMG00000020597	ENST00000373776.3:c.1047C>G	chr9.hg19:g.124751966G>C	ENSP00000362881:p.Ile349Met			Missense_Mutation	SNP	ENST00000373776.3	hg19	CCDS6834.2	.	.	.	.	.	.	.	.	.	.	G	21.3	4.133337	0.77662	.	.	ENSG00000175764	ENST00000321582;ENST00000373776	T;T	0.14144	2.53;2.53	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.48484	0.1502	M	0.92784	3.345	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.62982	-0.6738	10	0.87932	D	0	.	17.1382	0.86745	0.0:0.0:1.0:0.0	.	349;349	F8W6M1;Q8NHH1	.;TTL11_HUMAN	M	349	ENSP00000321346:I349M;ENSP00000362881:I349M	ENSP00000321346:I349M	I	-	3	3	TTLL11	123791787	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.472000	0.97709	2.283000	0.76528	0.549000	0.68633	ATC		0.532	TTLL11-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053907.1	XM_088486		C	124751966	G	C	124751966	3	2	795	1	0	0	0	0	1	0	0	0	16729	932	33	4	1457	4	TTLL11	9	124751966	Missense_Mutation	SNP	G	TCGA-SX-A7SS-01A-11D-A35Z-10	27229302	124751966	16461465	55	47398											
DNA2	1763	hgsc.bcm.edu	37	10	70182647	70182647	+	Splice_Site	SNP	G	G	T			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr10:70182647G>T	ENST00000358410.3	-	15	2259	c.2209C>A	c.(2209-2211)Ctt>Att	p.L737I	DNA2_ENST00000399179.2_Intron|DNA2_ENST00000399180.2_Splice_Site_p.L823I	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2	737	Helicase activity. {ECO:0000250}.				ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication, Okazaki fragment processing (GO:0033567)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|mitochondrial DNA repair (GO:0043504)|mitochondrial DNA replication (GO:0006264)|mitotic cell cycle (GO:0000278)|positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|5'-flap endonuclease activity (GO:0017108)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|nuclease activity (GO:0004518)|single-stranded DNA-dependent ATPase activity (GO:0043142)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						GCAACTATAAGCTAAAAACAA	0.294																																																0													33	33	33					10																	70182647		1795	4064	5859	SO:0001630	splice_region_variant	1763			D42046	CCDS44415.1, CCDS44415.2	10q21.3-q22.1	2013-05-13	2013-05-13	2008-01-08	ENSG00000138346	ENSG00000138346			2939	protein-coding gene	gene with protein product		601810	"DNA2 DNA replication helicase 2-like (yeast)", "DNA replication helicase 2 homolog (yeast)"	DNA2L		8938459, 17032657, 23352259	Standard	NM_001080449		Approved	KIAA0083	uc031pvh.1	P51530	OTTHUMG00000018352	ENST00000358410.3:c.2209-1C>A	chr10.hg19:g.70182647G>T			Q2NKM1|Q5TC49|Q5TC50|Q6P455|Q6PI80|Q7Z6H9|Q8N346	Missense_Mutation	SNP	ENST00000358410.3	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.90|14.90	2.673086|2.673086	0.47781|0.47781	.|.	.|.	ENSG00000138346|ENSG00000138346	ENST00000399180;ENST00000358410|ENST00000440722	D;D|.	0.81996|.	-1.56;-1.56|.	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	0.805718|.	0.11759|.	N|.	0.532301|.	T|T	0.71239|0.71239	0.3316|0.3316	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	B|.	0.20459|.	0.045|.	B|.	0.23716|.	0.048|.	T|T	0.66905|0.66905	-0.5805|-0.5805	10|5	0.27785|.	T|.	0.31|.	.|.	18.2358|18.2358	0.89949|0.89949	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	737|.	P51530|.	DNA2L_HUMAN|.	I|N	823;737|58	ENSP00000382133:L823I;ENSP00000351185:L737I|.	ENSP00000351185:L737I|.	L|T	-|-	1|2	0|0	DNA2|DNA2	69852653|69852653	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	6.533000|6.533000	0.73829|0.73829	2.754000|2.754000	0.94517|0.94517	0.585000|0.585000	0.79938|0.79938	CTT|ACT		0.294	DNA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048334.2		Missense_Mutation	T	70182647	G	T	70182647	5	4	795	1	0	0	0	0	0	0	1	0	4598	985	34	4	1001	4	DNA2	10	70182647	Splice_Site	SNP	G	TCGA-SX-A7SS-01A-11D-A35Z-10		70182647	65352100	56	47399											
TET1	80312	hgsc.bcm.edu	37	10	70432683	70432683	+	Missense_Mutation	SNP	G	G	C			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr10:70432683G>C	ENST00000373644.4	+	8	4914	c.4705G>C	c.(4705-4707)Gag>Cag	p.E1569Q		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1569					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AATTGATCCAGAGACTTGTGG	0.393																																																0													231	213	219					10																	70432683		2203	4300	6503	SO:0001583	missense	80312			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"leukemia-associated protein with a CXXC domain", "ten-eleven translocation-1"	607790	"CXXC zinc finger 6", "tet oncogene 1"	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.4705G>C	chr10.hg19:g.70432683G>C	ENSP00000362748:p.Glu1569Gln		Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	hg19	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.873167	0.51695	.	.	ENSG00000138336	ENST00000373644;ENST00000545846	T	0.09163	3.01	5.35	3.02	0.34903	TET cysteine-rich domain (1);	0.315805	0.34133	N	0.004223	T	0.09379	0.0231	L	0.43923	1.385	0.34559	D	0.71219	B	0.20671	0.047	B	0.21917	0.037	T	0.09552	-1.0669	10	0.52906	T	0.07	.	6.1008	0.20045	0.1921:0.1458:0.6621:0.0	.	1569	Q8NFU7	TET1_HUMAN	Q	1569;41	ENSP00000362748:E1569Q	ENSP00000362748:E1569Q	E	+	1	0	TET1	70102689	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	6.613000	0.74192	0.471000	0.27319	0.585000	0.79938	GAG		0.393	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		C	70432683	G	C	70432683	3	2	795	1	0	0	0	0	1	0	0	0	15774	943	33	4	4731	4	TET1	10	70432683	Missense_Mutation	SNP	G	TCGA-SX-A7SS-01A-11D-A35Z-10	250036	70432683	65102064	57	47400											
NEUROG3	50674	hgsc.bcm.edu	37	10	71332496	71332496	+	Missense_Mutation	SNP	C	C	T			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr10:71332496C>T	ENST00000242462.4	-	2	333	c.304G>A	c.(304-306)Gca>Aca	p.A102T		NM_020999.3	NP_066279.2	Q9Y4Z2	NGN3_HUMAN	neurogenin 3	102	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				central nervous system development (GO:0007417)|endocrine pancreas development (GO:0031018)|epithelial cell differentiation (GO:0030855)|forebrain development (GO:0030900)|hindbrain development (GO:0030902)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|peripheral nervous system development (GO:0007422)|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)|regulation of dendrite morphogenesis (GO:0048814)|spinal cord development (GO:0021510)|transdifferentiation (GO:0060290)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|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)|transcription coactivator activity (GO:0003713)			endometrium(4)|large_intestine(2)|lung(6)|prostate(1)	13						GCGTCCAGTGCCGAGTTGAGG	0.632																																																0													100	65	77					10																	71332496		2203	4300	6503	SO:0001583	missense	50674			AJ133776	CCDS31212.1	10q21.3	2013-05-21			ENSG00000122859	ENSG00000122859		"Basic helix-loop-helix proteins"	13806	protein-coding gene	gene with protein product		604882				9000438, 10677506	Standard	NM_020999		Approved	Atoh5, Math4B, ngn3, bHLHa7	uc001jpp.3	Q9Y4Z2	OTTHUMG00000018391	ENST00000242462.4:c.304G>A	chr10.hg19:g.71332496C>T	ENSP00000242462:p.Ala102Thr		Q5VVI0|Q6DJX6|Q9BY24	Missense_Mutation	SNP	ENST00000242462.4	hg19	CCDS31212.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.671709	0.88348	.	.	ENSG00000122859	ENST00000242462	D	0.98329	-4.87	4.53	4.53	0.55603	Helix-loop-helix DNA-binding (5);	0.000000	0.40728	N	0.001030	D	0.98982	0.9653	M	0.92649	3.33	0.80722	D	1	D	0.69078	0.997	D	0.73380	0.98	D	0.99267	1.0892	10	0.87932	D	0	-15.9262	10.508	0.44845	0.0:0.9052:0.0:0.0948	.	102	Q9Y4Z2	NGN3_HUMAN	T	102	ENSP00000242462:A102T	ENSP00000242462:A102T	A	-	1	0	NEUROG3	71002502	1.000000	0.71417	0.932000	0.37286	0.710000	0.40934	5.808000	0.69165	2.307000	0.77673	0.591000	0.81541	GCA		0.632	NEUROG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048464.1	NM_020999		T	71332496	C	T	71332496	3	4	795	1	0	0	0	0	1	0	0	0	10356	739	26	2	344	2	NEUROG3	10	71332496	Missense_Mutation	SNP	C	TCGA-SX-A7SS-01A-11D-A35Z-10	899813	71332496	64202251	58	47401											
DUPD1	338599	hgsc.bcm.edu	37	10	76818209	76818209	+	Missense_Mutation	SNP	G	G	A			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr10:76818209G>A	ENST00000338487.5	-	1	63	c.64C>T	c.(64-66)Ccg>Tcg	p.P22S		NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase domain containing 1	22					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)					TCCATCTTCGGCGACAGCCTC	0.552																																																0													86	79	82					10																	76818209		2203	4300	6503	SO:0001583	missense	338599				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.64C>T	chr10.hg19:g.76818209G>A	ENSP00000340609:p.Pro22Ser		B2RP93	Missense_Mutation	SNP	ENST00000338487.5	hg19	CCDS31223.1	.	.	.	.	.	.	.	.	.	.	G	2.665	-0.278797	0.05642	.	.	ENSG00000188716	ENST00000338487	T	0.04758	3.56	3.74	0.838	0.18902	.	4.428410	0.00520	N	0.000188	T	0.04318	0.0119	N	0.22421	0.69	0.09310	N	1	B	0.26635	0.155	B	0.25405	0.06	T	0.37291	-0.9712	10	0.32370	T	0.25	-4.5968	4.2727	0.10794	0.2154:0.1879:0.5966:0.0	.	22	Q68J44	DUPD1_HUMAN	S	22	ENSP00000340609:P22S	ENSP00000340609:P22S	P	-	1	0	DUPD1	76488215	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.474000	0.22148	0.191000	0.20236	-0.244000	0.11960	CCG		0.552	DUPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048777.2	XM_291741		A	76818209	G	A	76818209	3	1	795	1	0	0	0	0	1	0	0	0	4806	1203	42	2	610	2	DUPD1	10	76818209	Missense_Mutation	SNP	G	TCGA-SX-A7SS-01A-11D-A35Z-10	5485713	76818209	58716538	59	47402											
PYROXD2	84795	hgsc.bcm.edu	37	10	100152221	100152222	+	Frame_Shift_Ins	INS	-	-	T			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr10:100152221_100152222insT	ENST00000370575.4	-	10	1077_1078	c.1029_1030insA	c.(1027-1032)tcaccgfs	p.P344fs	PYROXD2_ENST00000483923.1_5'UTR|MIR1287_ENST00000408492.1_RNA	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	344							oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						GTGATCTGCGGTGATGTGTTGG	0.54																																																0																																										SO:0001589	frameshift_variant	84795			AK074429	CCDS7474.1	10q24.2	2009-04-22	2009-04-22	2009-04-22	ENSG00000119943	ENSG00000119943			23517	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 33"	C10orf33			Standard	NM_032709		Approved	FLJ23849	uc001kpc.3	Q8N2H3	OTTHUMG00000018877	ENST00000370575.4:c.1030dupA	chr10.hg19:g.100152222_100152222dupT	ENSP00000359607:p.Pro344fs		D3DR61|Q5TAA9|Q9BRQ1	Frame_Shift_Ins	INS	ENST00000370575.4	hg19	CCDS7474.1																																																																																				0.54	PYROXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049782.2	NM_032709		T	100152222	-	T	100152221	7	5	795	1	0	1	1	0	0	0	0	0	12873	1261	44	0	743	0	PYROXD2	10	100152221	Frame_Shift_Ins	INS	-	TCGA-SX-A7SS-01A-11D-A35Z-10	23334012	100152221	35382526	60	47403											
BTRC	8945	hgsc.bcm.edu	37	10	103294516	103294516	+	Missense_Mutation	SNP	G	G	C			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr10:103294516G>C	ENST00000370187.3	+	10	1314	c.1196G>C	c.(1195-1197)tGc>tCc	p.C399S	BTRC_ENST00000393441.4_Missense_Mutation_p.C358S|BTRC_ENST00000408038.2_Missense_Mutation_p.C363S	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	399					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to organic cyclic compound (GO:0071407)|G2/M transition of mitotic cell cycle (GO:0000086)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		ATGGTGACCTGCTCCAAAGAT	0.483																																																0													288	229	249					10																	103294516		2203	4300	6503	SO:0001583	missense	8945			Y14153	CCDS7511.1, CCDS7512.1, CCDS73183.1	10q24.32	2013-01-10	2012-02-23		ENSG00000166167	ENSG00000166167		"F-boxes / WD-40 domains", "WD repeat domain containing"	1144	protein-coding gene	gene with protein product		603482	"beta-transducin repeat containing"			9660940, 10331953, 18354483	Standard	NM_033637		Approved	bTrCP, betaTrCP, FBXW1A, Fwd1, beta-TrCP1, bTrCP1	uc001kta.4	Q9Y297	OTTHUMG00000018932	ENST00000370187.3:c.1196G>C	chr10.hg19:g.103294516G>C	ENSP00000359206:p.Cys399Ser		B5MD49|Q5W141|Q5W142|Q9Y213	Missense_Mutation	SNP	ENST00000370187.3	hg19	CCDS7512.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.760650	0.89932	.	.	ENSG00000166167	ENST00000370187;ENST00000393441;ENST00000408038	T;T;T	0.58797	0.31;0.31;0.31	5.51	5.51	0.81932	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.196293	0.46758	D	0.000272	T	0.71685	0.3369	L	0.45744	1.44	0.80722	D	1	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.91635	0.969;0.991;0.999	T	0.69431	-0.5147	10	0.41790	T	0.15	-9.4875	19.4137	0.94687	0.0:0.0:1.0:0.0	.	373;363;399	B7Z3H4;Q9Y297-2;Q9Y297	.;.;FBW1A_HUMAN	S	399;358;363	ENSP00000359206:C399S;ENSP00000377088:C358S;ENSP00000385339:C363S	ENSP00000359206:C399S	C	+	2	0	BTRC	103284506	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.597000	0.87782	0.655000	0.94253	TGC		0.483	BTRC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049936.1	NM_033637		C	103294516	G	C	103294516	3	2	795	1	0	0	0	0	1	0	0	0	1571	1319	46	4	1234	4	BTRC	10	103294516	Missense_Mutation	SNP	G	TCGA-SX-A7SS-01A-11D-A35Z-10	3142295	103294516	32240231	61	47404											
IGSF22	283284	hgsc.bcm.edu	37	11	18738437	18738444	+	Frame_Shift_Del	DEL	ACTTCCAC	ACTTCCAC	-			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	ACTTCCAC	ACTTCCAC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr11:18738437_18738444delACTTCCAC	ENST00000513874.1	-	10	1216_1223	c.1077_1084delGTGGAAGT	c.(1075-1086)gtgtggaagttcfs	p.WKF360fs	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	360										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						TTCCCATTGAACTTCCACACAAAGTTGG	0.505																																																0																																										SO:0001589	frameshift_variant	283284			AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.1077_1084delGTGGAAGT	chr11.hg19:g.18738437_18738444delACTTCCAC	ENSP00000421191:p.Trp360fs		A6NNA0|D6RGV7	Frame_Shift_Del	DEL	ENST00000513874.1	hg19	CCDS41625.2																																																																																				0.505	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588		-	18738444	ACTTCCAC	-	18738437	7	5	795	1	0	1	0	1	0	0	0	0	7602	43	2	0	2952	0	IGSF22	11	18738437	Frame_Shift_Del	DEL	ACTTCCAC	TCGA-SX-A7SS-01A-11D-A35Z-10		18738437	116268079	62	47405											
FTH1	2495	hgsc.bcm.edu	37	11	61732247	61732247	+	Missense_Mutation	SNP	T	T	G			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr11:61732247T>G	ENST00000273550.7	-	4	738	c.504A>C	c.(502-504)gaA>gaC	p.E168D	BEST1_ENST00000449131.2_3'UTR|FTH1_ENST00000532601.1_Missense_Mutation_p.E98D|FTH1_ENST00000529191.1_Intron|FTH1_ENST00000529631.1_Intron|FTH1_ENST00000526640.1_Missense_Mutation_p.E138D	NM_002032.2	NP_002023.2	P02794	FRIH_HUMAN	ferritin, heavy polypeptide 1	168					cellular iron ion homeostasis (GO:0006879)|immune response (GO:0006955)|intracellular sequestering of iron ion (GO:0006880)|iron ion transport (GO:0006826)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|post-Golgi vesicle-mediated transport (GO:0006892)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular ferritin complex (GO:0008043)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)|iron ion binding (GO:0005506)			NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8					Iron Dextran(DB00893)	CAAAGAGATATTCCGCCAAGC	0.522																																																0													57	55	55					11																	61732247		1872	4092	5964	SO:0001583	missense	2495				CCDS41655.1	11q13	2012-10-02			ENSG00000167996	ENSG00000167996			3976	protein-coding gene	gene with protein product	"apoferritin", "placenta immunoregulatory factor", "proliferation-inducing protein 15"	134770		FTHL6		3020541	Standard	NM_002032		Approved	FTH, PLIF, PIG15, FHC	uc001nsu.3	P02794		ENST00000273550.7:c.504A>C	chr11.hg19:g.61732247T>G	ENSP00000273550:p.Glu168Asp		B3KNR5|Q3KRA8|Q3SWW1	Missense_Mutation	SNP	ENST00000273550.7	hg19	CCDS41655.1	.	.	.	.	.	.	.	.	.	.	.	14.79	2.640495	0.47153	.	.	ENSG00000167996	ENST00000273550;ENST00000406545;ENST00000526640;ENST00000532601	T;T;T	0.71103	-0.54;-0.54;-0.54	5.13	0.569	0.17340	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);	0.000000	0.85682	D	0.000000	T	0.75072	0.3800	M	0.92649	3.33	0.54753	D	0.999983	B	0.10296	0.003	B	0.21546	0.035	T	0.72469	-0.4284	10	0.66056	D	0.02	.	10.9125	0.47116	0.0:0.697:0.0:0.303	.	168	P02794	FRIH_HUMAN	D	168;217;138;98	ENSP00000273550:E168D;ENSP00000433321:E138D;ENSP00000435111:E98D	ENSP00000273550:E168D	E	-	3	2	FTH1	61488823	1.000000	0.71417	0.992000	0.48379	0.907000	0.53573	0.791000	0.26915	0.064000	0.16427	-1.670000	0.00746	GAA		0.522	FTH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388444.1	NM_002032		G	61732247	T	G	61732247	3	3	795	1	0	0	0	0	1	0	0	0	6084	1490	52	5	51	5	FTH1	11	61732247	Missense_Mutation	SNP	T	TCGA-SX-A7SS-01A-11D-A35Z-10	42993810	61732247	73274269	63	47406											
MRPL49	740	hgsc.bcm.edu	37	11	64892052	64892052	+	Missense_Mutation	SNP	C	C	T			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr11:64892052C>T	ENST00000279242.2	+	2	176	c.157C>T	c.(157-159)Ccg>Tcg	p.P53S	FAU_ENST00000529639.1_5'Flank|FAU_ENST00000525297.1_5'Flank|FAU_ENST00000279259.3_5'Flank|FAU_ENST00000527548.1_5'Flank|MRPL49_ENST00000524482.1_3'UTR|FAU_ENST00000529259.1_5'Flank|MRPL49_ENST00000531705.1_Missense_Mutation_p.P53S|MRPL49_ENST00000534078.1_Intron|FAU_ENST00000531743.1_5'Flank|MRPL49_ENST00000526171.1_Missense_Mutation_p.P53S|FAU_ENST00000434372.2_5'Flank	NM_004927.3	NP_004918.1	Q13405	RM49_HUMAN	mitochondrial ribosomal protein L49	53					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)			endometrium(1)|ovary(1)	2						GCGCCTGTTACCGGCTACCAG	0.532																																																0													95	95	95					11																	64892052		2201	4297	6498	SO:0001583	missense	740				CCDS8096.1	11q13.1	2012-11-14	2001-10-16	2001-10-19	ENSG00000149792	ENSG00000149792		"Mitochondrial ribosomal proteins / large subunits"	1176	protein-coding gene	gene with protein product	"neighbor of FAU", "next to FAU"	606866	"chromosome 11 open reading frame 4"	C11orf4		8786148	Standard	NM_004927		Approved	NOF, NOF1, L49mt	uc001oda.2	Q13405	OTTHUMG00000165608	ENST00000279242.2:c.157C>T	chr11.hg19:g.64892052C>T	ENSP00000279242:p.Pro53Ser		B2R4G6	Missense_Mutation	SNP	ENST00000279242.2	hg19	CCDS8096.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.428742	0.83667	.	.	ENSG00000149792	ENST00000526171;ENST00000279242;ENST00000531705	T;T;T	0.61274	0.63;0.66;0.12	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.77605	0.4155	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78650	-0.2121	10	0.51188	T	0.08	-14.1545	17.02	0.86431	0.0:1.0:0.0:0.0	.	53	Q13405	RM49_HUMAN	S	53	ENSP00000437177:P53S;ENSP00000279242:P53S;ENSP00000436740:P53S	ENSP00000279242:P53S	P	+	1	0	MRPL49	64648628	1.000000	0.71417	0.999000	0.59377	0.546000	0.35178	6.539000	0.73856	2.632000	0.89209	0.655000	0.94253	CCG		0.532	MRPL49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385293.1	NM_004927		T	64892052	C	T	64892052	3	4	795	1	0	0	0	0	1	0	0	0	9815	507	18	2	163	2	MRPL49	11	64892052	Missense_Mutation	SNP	C	TCGA-SX-A7SS-01A-11D-A35Z-10	3159805	64892052	70114464	64	47407											
C11orf54	28970	hgsc.bcm.edu	37	11	93494797	93494797	+	Silent	SNP	A	A	G			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr11:93494797A>G	ENST00000331239.4	+	9	1070	c.891A>G	c.(889-891)gcA>gcG	p.A297A	C11orf54_ENST00000528288.1_Silent_p.A247A|C11orf54_ENST00000528099.1_Silent_p.A297A|C11orf54_ENST00000354421.3_Silent_p.A297A|C11orf54_ENST00000540113.1_Silent_p.A278A			Q9H0W9	CK054_HUMAN	chromosome 11 open reading frame 54	297					metabolic process (GO:0008152)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|large_intestine(1)|lung(5)	8		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TCTTACCTGCAGAGTTTCTCT	0.363																																																0													132	120	124					11																	93494797		2201	4298	6499	SO:0001819	synonymous_variant	28970			AF092133	CCDS8294.1, CCDS66204.1, CCDS73365.1, CCDS73366.1	11q21	2012-08-09			ENSG00000182919	ENSG00000182919			30204	protein-coding gene	gene with protein product		615810				16522806	Standard	NM_014039		Approved	PTD012	uc001pef.3	Q9H0W9	OTTHUMG00000167452	ENST00000331239.4:c.891A>G	chr11.hg19:g.93494797A>G			A8K850|Q6FI88|Q6XYB0|Q96EI3|Q96IX1|Q9Y6B4	Silent	SNP	ENST00000331239.4	hg19																																																																																					0.363	C11orf54-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394671.1	NM_014039		G	93494797	A	G	93494797	2	3	795	1	0	0	0	0	0	0	0	1	1651	175	7	3		3	C11orf54	11	93494797	Silent	SNP	A	TCGA-SX-A7SS-01A-11D-A35Z-10	28602745	93494797	41511719	65	47408											
GPR19	2842	hgsc.bcm.edu	37	12	12814283	12814283	+	Missense_Mutation	SNP	G	G	C			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr12:12814283G>C	ENST00000540510.1	-	2	1292	c.1100C>G	c.(1099-1101)gCc>gGc	p.A367G	GPR19_ENST00000332427.2_Missense_Mutation_p.A367G			P46093	GPR4_HUMAN	G protein-coupled receptor 19	329					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)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.048)		GTTTTTTTTGGCCATCCTTGA	0.393																																																0													197	183	188					12																	12814283		2203	4300	6503	SO:0001583	missense	2842				CCDS8652.1	12p12.3	2014-01-30				ENSG00000183150		"GPCR / Class A : Orphans"	4473	protein-coding gene	gene with protein product		602927					Standard	NM_006143		Approved		uc001raq.2	Q15760		ENST00000540510.1:c.1100C>G	chr12.hg19:g.12814283G>C	ENSP00000441832:p.Ala367Gly		A8K3T3|B0M0K1|Q6NWM4	Missense_Mutation	SNP	ENST00000540510.1	hg19	CCDS8652.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.053890	0.55218	.	.	ENSG00000183150	ENST00000540510;ENST00000332427	T;T	0.69306	-0.39;-0.39	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.69922	0.3165	N	0.14661	0.345	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.69101	-0.5234	10	0.29301	T	0.29	-24.4311	19.3003	0.94141	0.0:0.0:1.0:0.0	.	367	Q15760	GPR19_HUMAN	G	367	ENSP00000441832:A367G;ENSP00000333744:A367G	ENSP00000333744:A367G	A	-	2	0	GPR19	12705550	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.858000	0.99539	2.658000	0.90341	0.650000	0.86243	GCC		0.393	GPR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400662.1	NM_006143		C	12814283	G	C	12814283	3	2	795	1	0	0	0	0	1	0	0	0	6681	1203	42	4	151	4	GPR19	12	12814283	Missense_Mutation	SNP	G	TCGA-SX-A7SS-01A-11D-A35Z-10		12814283	121037612	66	47409											
IPO8	10526	hgsc.bcm.edu	37	12	30792466	30792466	+	Silent	SNP	A	A	G			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr12:30792466A>G	ENST00000256079.4	-	21	2810	c.2472T>C	c.(2470-2472)gaT>gaC	p.D824D	IPO8_ENST00000544829.1_Silent_p.D619D	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	824					intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)			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)					AACAATCTGTATCATTCATCC	0.343																																																0													122	113	116					12																	30792466		2203	4300	6503	SO:0001819	synonymous_variant	10526			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.2472T>C	chr12.hg19:g.30792466A>G			B7Z7M3	Silent	SNP	ENST00000256079.4	hg19	CCDS8719.1																																																																																				0.343	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402700.2	NM_006390		G	30792466	A	G	30792466	2	3	795	1	0	0	0	0	0	0	0	1	7800	446	16	3		3	IPO8	12	30792466	Silent	SNP	A	TCGA-SX-A7SS-01A-11D-A35Z-10	17978183	30792466	103059429	67	47410											
ZFC3H1	196441	hgsc.bcm.edu	37	12	72017305	72017306	+	Frame_Shift_Ins	INS	-	-	CCATG			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr12:72017305_72017306insCCATG	ENST00000378743.3	-	24	4936_4937	c.4578_4579insCATGG	c.(4576-4581)tggttgfs	p.L1527fs		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1527					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						ATGTAGGCCAACCATGCCAAAC	0.307																																																0																																										SO:0001589	frameshift_variant	196441			AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"Zinc finger, C3H1-type containing"	28328	protein-coding gene	gene with protein product			"proline/serine-rich coiled-coil 2", "coiled-coil domain containing 131"	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.4574_4578dupCATGG	chr12.hg19:g.72017306_72017310dupCCATG	ENSP00000368017:p.Leu1527fs		Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Frame_Shift_Ins	INS	ENST00000378743.3	hg19	CCDS41813.1																																																																																				0.307	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		CCATG	72017306	-	CCATG	72017305	7	5	795	1	0	1	1	0	0	0	0	0	17638	40	2	0	1438	0	ZFC3H1	12	72017305	Frame_Shift_Ins	INS	-	TCGA-SX-A7SS-01A-11D-A35Z-10	41224839	72017305	61834590	68	47411											
GTF3A	219402	hgsc.bcm.edu	37	13	28006937	28006937	+	IGR	SNP	C	C	G			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr13:28006937C>G	ENST00000381116.1	-	0	1104				GTF3A_ENST00000381140.4_Missense_Mutation_p.H186Q|MTIF3_ENST00000461838.1_5'Flank|GTF3A_ENST00000470606.1_3'UTR			Q9H2K0	IF3M_HUMAN	mitochondrial translational initiation factor 3						formation of translation initiation complex (GO:0001732)|regulation of translational initiation (GO:0006446)|ribosome disassembly (GO:0032790)	mitochondrion (GO:0005739)	ribosomal small subunit binding (GO:0043024)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.108)|OV - Ovarian serous cystadenocarcinoma(117;0.157)		CCAAGGCCCACGAGGGTGTGT	0.537																																																0													51	46	47					13																	28006937		1568	3582	5150	SO:0001628	intergenic_variant	2971			BC046166	CCDS9322.1	13q12.2	2007-05-03			ENSG00000122033	ENSG00000122033			29788	protein-coding gene	gene with protein product						12095986	Standard	NM_152912		Approved	IF-3mt, IF3(mt)	uc001uri.3	Q9H2K0	OTTHUMG00000016633		chr13.hg19:g.28006937C>G			Q05BL8|Q5W0V0|Q86X68	Missense_Mutation	SNP	ENST00000381116.1	hg19	CCDS9322.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.160143	0.38119	.	.	ENSG00000122034	ENST00000381140;ENST00000439403	D;D	0.81908	-1.55;-1.55	5.83	-4.3	0.03710	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	0.91157	0.7215	M	0.91406	3.205	0.42190	D	0.991722	D	0.89917	1.0	D	0.97110	1.0	D	0.92191	0.5759	9	0.87932	D	0	-33.4783	15.88	0.79197	0.0:0.3529:0.0:0.6471	.	186	Q92664	TF3A_HUMAN	Q	186;56	ENSP00000370532:H186Q;ENSP00000393050:H56Q	ENSP00000370532:H186Q	H	+	3	2	GTF3A	26904937	0.910000	0.30920	0.717000	0.30585	0.048000	0.14542	-0.039000	0.12124	-0.765000	0.04645	-1.223000	0.01593	CAC		0.537	MTIF3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044300.1	NM_152912		G	28006937	C	G	28006937	1	3	795	0	1	0	0	0	0	0	0	0	6873	535	19	4		4	GTF3A	13	28006937	IGR	SNP	C	TCGA-SX-A7SS-01A-11D-A35Z-10		28006937	87162941	69	47412											
DHRS4	10901	hgsc.bcm.edu	37	14	24424419	24424419	+	Missense_Mutation	SNP	A	A	T			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr14:24424419A>T	ENST00000313250.5	+	2	507	c.304A>T	c.(304-306)Acg>Tcg	p.T102S	DHRS4_ENST00000543741.2_Missense_Mutation_p.T102S|DHRS4_ENST00000382761.3_Missense_Mutation_p.T84S|DHRS4_ENST00000397073.2_Missense_Mutation_p.T84S|DHRS4_ENST00000397074.3_Missense_Mutation_p.T102S|DHRS4_ENST00000559632.1_Missense_Mutation_p.T102S|DHRS4_ENST00000558263.1_Missense_Mutation_p.T102S|DHRS4_ENST00000308178.8_Missense_Mutation_p.T84S|DHRS4_ENST00000397075.3_Missense_Mutation_p.T102S|DHRS4_ENST00000558581.1_Missense_Mutation_p.T102S|DHRS4-AS1_ENST00000556379.1_RNA|DHRS4_ENST00000421831.1_Missense_Mutation_p.T84S	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)			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)	GCTGGTGGCCACGGTGAGCTG	0.652																																																0													19	23	21					14																	24424419		2201	4298	6499	SO:0001583	missense	10901			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.304A>T	chr14.hg19:g.24424419A>T	ENSP00000326219:p.Thr102Ser		B2RB10|B7WNS9|D3YTB8|E2QRL8|O95162|Q20CR0|Q2LC19|Q2LE81|Q58IU4|Q6E0Y1|Q6UWU3|Q71UQ6|Q8TD03|Q9H3N5|Q9NV08	Missense_Mutation	SNP	ENST00000313250.5	hg19	CCDS9605.1	.	.	.	.	.	.	.	.	.	.	.	12.04	1.818425	0.32145	.	.	ENSG00000157326	ENST00000313250;ENST00000421831;ENST00000397073;ENST00000308178;ENST00000382761;ENST00000397075;ENST00000397074;ENST00000543741	T;T;D;D;D;D;D;D	0.87571	1.03;1.02;-2.27;-2.27;-2.27;-2.27;-2.27;-2.27	3.78	3.78	0.43462	NAD(P)-binding domain (1);	0.264094	0.42294	D	0.000732	T	0.81059	0.4744	N	0.20483	0.58	0.33769	D	0.622794	P;B;B;B;B;B	0.48911	0.917;0.0;0.0;0.002;0.409;0.003	P;B;B;B;B;B	0.49799	0.622;0.002;0.001;0.006;0.273;0.01	T	0.82275	-0.0538	10	0.22706	T	0.39	.	10.5463	0.45062	1.0:0.0:0.0:0.0	.	102;102;102;102;102;102	Q9BTZ2-5;F5GWZ1;Q9BTZ2-2;Q9BTZ2-7;Q9BTZ2-4;Q9BTZ2	.;.;.;.;.;DHRS4_HUMAN	S	102;84;84;84;84;102;102;102	ENSP00000326219:T102S;ENSP00000404147:T84S;ENSP00000380263:T84S;ENSP00000311993:T84S;ENSP00000372209:T84S;ENSP00000380265:T102S;ENSP00000380264:T102S;ENSP00000440508:T102S	ENSP00000311993:T84S	T	+	1	0	DHRS4	23494259	0.466000	0.25823	0.992000	0.48379	0.573000	0.36030	2.775000	0.47702	1.597000	0.50072	0.392000	0.25879	ACG		0.652	DHRS4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071857.3			T	24424419	A	T	24424419	3	4	795	1	0	0	0	0	1	0	0	0	4494	159	6	5	310	5	DHRS4	14	24424419	Missense_Mutation	SNP	A	TCGA-SX-A7SS-01A-11D-A35Z-10		24424419	82925121	70	47413											
ZBTB25	7597	hgsc.bcm.edu	37	14	64957106	64957106	+	Frame_Shift_Del	DEL	A	A	-			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr14:64957106delA	ENST00000608382.1	-	2	337	c.146delT	c.(145-147)ttcfs	p.F49fs	ZBTB25_ENST00000555424.1_Frame_Shift_Del_p.F49fs|ZBTB25_ENST00000394715.1_Frame_Shift_Del_p.F49fs|ZBTB25_ENST00000555220.1_Frame_Shift_Del_p.F49fs	NM_006977.2	NP_008908.2	P24278	ZBT25_HUMAN	zinc finger and BTB domain containing 25	49	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				gene expression (GO:0010467)|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(1)|lung(3)|ovary(2)|skin(2)	10				all cancers(60;0.00865)|OV - Ovarian serous cystadenocarcinoma(108;0.0102)|BRCA - Breast invasive adenocarcinoma(234;0.0469)		TATCATCTTGAAATAGTTAGA	0.313																																																0													58	60	59					14																	64957106		2203	4300	6503	SO:0001589	frameshift_variant	7597			X16576	CCDS9765.1	14q23-q24	2013-01-08	2005-05-22	2005-05-22	ENSG00000089775	ENSG00000089775		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	13112	protein-coding gene	gene with protein product		194541	"zinc finger protein 46 (KUP)", "chromosome 14 open reading frame 51"	ZNF46, C14orf51			Standard	NM_006977		Approved	KUP	uc001xhf.3	P24278	OTTHUMG00000141310	ENST00000608382.1:c.146delT	chr14.hg19:g.64957106delA	ENSP00000476746:p.Phe49fs		B3KUX6|Q8IYH9	Frame_Shift_Del	DEL	ENST00000608382.1	hg19	CCDS9765.1																																																																																				0.313	ZBTB25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280649.2	NM_006977		-	64957106	A	-	64957106	7	5	795	1	0	1	0	1	0	0	0	0	17537	246	9	0	1169	0	ZBTB25	14	64957106	Frame_Shift_Del	DEL	A	TCGA-SX-A7SS-01A-11D-A35Z-10	40532687	64957106	42392434	71	47414											
TTC7B	145567	hgsc.bcm.edu	37	14	91142993	91142993	+	Silent	SNP	G	G	A	rs149388931		TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr14:91142993G>A	ENST00000328459.6	-	9	1147	c.1026C>T	c.(1024-1026)gaC>gaT	p.D342D	RP11-661G16.1_ENST00000554967.1_RNA|TTC7B_ENST00000357056.2_Silent_p.D342D	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	342								p.D342D(1)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				TCAGCACAGCGTCCCGGTTGG	0.532													G|||	1	0.000199681	0.0	0.0	5008	,	,		19900	0.001		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	endometrium(1)						G		0,4406		0,0,2203	125	102	110		1026	-10.1	0.2	14	dbSNP_134	110	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TTC7B	NM_001010854.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		342/844	91142993	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	145567			BC035865	CCDS32140.1	14q32.12	2013-01-11	2004-06-02	2004-06-04		ENSG00000165914		"Tetratricopeptide (TTC) repeat domain containing"	19858	protein-coding gene	gene with protein product			"tetratricopeptide repeat domain 7 like 1"	TTC7L1			Standard	XM_005267367		Approved		uc001xyp.3	Q86TV6		ENST00000328459.6:c.1026C>T	chr14.hg19:g.91142993G>A			Q86U24|Q86VT3	Silent	SNP	ENST00000328459.6	hg19	CCDS32140.1	.	.	.	.	.	.	.	.	.	.	G	0.952	-0.706004	0.03255	0.0	1.16E-4	ENSG00000165914	ENST00000554462	.	.	.	5.15	-10.1	0.00402	.	.	.	.	.	T	0.55657	0.1934	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66188	-0.5986	4	.	.	.	-13.7471	12.5361	0.56142	0.732:0.0:0.1834:0.0847	.	.	.	.	C	12	.	.	R	-	1	0	TTC7B	90212746	0.524000	0.26282	0.175000	0.22980	0.153000	0.21895	-0.170000	0.09897	-2.269000	0.00684	-2.956000	0.00083	CGC		0.532	TTC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411364.2			A	91142993	G	A	91142993	2	1	795	1	0	0	0	0	0	0	0	1	16718	1136	40	1		1	TTC7B	14	91142993	Silent	SNP	G	TCGA-SX-A7SS-01A-11D-A35Z-10	26185887	91142993	16206547	72	47415											
APBA2	321	hgsc.bcm.edu	37	15	29346965	29346966	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr15:29346965_29346966insCT	ENST00000558402.1	+	5	1477_1478	c.878_879insCT	c.(877-882)cccggafs	p.G294fs	APBA2_ENST00000558330.1_Frame_Shift_Ins_p.G294fs|APBA2_ENST00000561069.1_Frame_Shift_Ins_p.G294fs|APBA2_ENST00000411764.1_Frame_Shift_Ins_p.G294fs|APBA2_ENST00000558259.1_Frame_Shift_Ins_p.G294fs			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	294					in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GCCAAGCACCCCGGAGACCCCC	0.663																																																0																																										SO:0001589	frameshift_variant	321			AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"X11-like", "amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	Exception_encountered	chr15.hg19:g.29346965_29346966insCT	ENSP00000453293:p.Gly294fs		E9PGI4|O60571|Q5XKC0	Frame_Shift_Ins	INS	ENST00000558402.1	hg19	CCDS10022.1																																																																																				0.663	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503		CT	29346966	-	CT	29346965	7	5	795	1	0	1	1	0	0	0	0	0	757	623	22	0	880	0	APBA2	15	29346965	Frame_Shift_Ins	INS	-	TCGA-SX-A7SS-01A-11D-A35Z-10		29346965	73184427	73	47416											
MAPKBP1	23005	hgsc.bcm.edu	37	15	42109123	42109123	+	Missense_Mutation	SNP	C	C	A			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr15:42109123C>A	ENST00000456763.2	+	15	1815	c.1619C>A	c.(1618-1620)gCa>gAa	p.A540E	MAPKBP1_ENST00000457542.2_Missense_Mutation_p.A534E|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.A417E|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.A373E|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.A534E	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	540										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)		AAACTGCTAGCATCGGCGAGC	0.592																																																0													93	95	95					15																	42109123		2203	4300	6503	SO:0001583	missense	23005			AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"WD repeat domain containing"	29536	protein-coding gene	gene with protein product			"mitogen activated protein kinase binding protein 1"			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.1619C>A	chr15.hg19:g.42109123C>A	ENSP00000393099:p.Ala540Glu		A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP	ENST00000456763.2	hg19	CCDS45239.1	.	.	.	.	.	.	.	.	.	.	c	21.5	4.160189	0.78226	.	.	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000260357;ENST00000456763;ENST00000514566	T;T;T;T;T	0.71579	1.2;1.2;0.73;-0.58;0.73	5.63	5.63	0.86233	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	0.89924	0.6856	H	0.96430	3.82	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;1.0;0.999	D	0.92621	0.6108	10	0.87932	D	0	-12.8407	19.7096	0.96089	0.0:1.0:0.0:0.0	.	373;417;534;540;534	F8WC21;O60336-3;O60336-2;O60336;O60336-6	.;.;.;MABP1_HUMAN;.	E	534;417;373;540;534	ENSP00000397570:A534E;ENSP00000221214:A417E;ENSP00000260357:A373E;ENSP00000393099:A540E;ENSP00000426154:A534E	ENSP00000221214:A417E	A	+	2	0	MAPKBP1	39896415	1.000000	0.71417	0.802000	0.32245	0.055000	0.15305	7.815000	0.86186	2.652000	0.90054	0.655000	0.94253	GCA		0.592	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994		A	42109123	C	A	42109123	3	1	795	1	0	0	0	0	1	0	0	0	9294	710	25	4	1673	4	MAPKBP1	15	42109123	Missense_Mutation	SNP	C	TCGA-SX-A7SS-01A-11D-A35Z-10	12762158	42109123	60422269	74	47417											
RCN2	5955	hgsc.bcm.edu	37	15	77227974	77227974	+	Missense_Mutation	SNP	G	G	C			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr15:77227974G>C	ENST00000394885.3	+	3	581	c.358G>C	c.(358-360)Gat>Cat	p.D120H	RCN2_ENST00000394883.3_Intron|RCN2_ENST00000320963.5_Missense_Mutation_p.D120H	NM_002902.2	NP_002893.1	Q14257	RCN2_HUMAN	reticulocalbin 2, EF-hand calcium binding domain	120	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(2)|large_intestine(2)|lung(1)	7						TGTGACTTGGGATGAATATAA	0.373																																																0													225	196	206					15																	77227974		2196	4294	6490	SO:0001583	missense	5955			X78669	CCDS10291.1, CCDS61719.1	15q22.33-q24.1	2013-01-10			ENSG00000117906	ENSG00000117906		"EF-hand domain containing"	9935	protein-coding gene	gene with protein product	"Reticulocalbin 2, EF-hand calcium binding domain (endoplasmic reticulum calcium-binding protein, 55kD)"	602584				9533013, 7624774	Standard	NM_002902		Approved	ERC-55, E6BP, ERC55, TCBP49	uc002bcd.3	Q14257	OTTHUMG00000143730	ENST00000394885.3:c.358G>C	chr15.hg19:g.77227974G>C	ENSP00000378349:p.Asp120His		A8MTG6|F8WCY5|Q53XN8	Missense_Mutation	SNP	ENST00000394885.3	hg19	CCDS10291.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.051489	0.55218	.	.	ENSG00000117906	ENST00000394885;ENST00000320963	T;T	0.74209	-0.82;-0.82	5.74	5.74	0.90152	EF-hand-like domain (1);	0.189000	0.56097	D	0.000037	T	0.82135	0.4971	M	0.72576	2.205	0.80722	D	1	D;D	0.61080	0.989;0.966	P;P	0.60345	0.847;0.873	D	0.83656	0.0158	10	0.87932	D	0	-30.4362	10.9266	0.47195	0.1131:0.0:0.8869:0.0	.	120;120	F8WCY5;Q14257	.;RCN2_HUMAN	H	120	ENSP00000378349:D120H;ENSP00000319739:D120H	ENSP00000319739:D120H	D	+	1	0	RCN2	75015029	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	4.439000	0.59968	2.709000	0.92574	0.591000	0.81541	GAT		0.373	RCN2-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289795.1	NM_002902		C	77227974	G	C	77227974	3	2	795	1	0	0	0	0	1	0	0	0	13186	1174	41	4	368	4	RCN2	15	77227974	Missense_Mutation	SNP	G	TCGA-SX-A7SS-01A-11D-A35Z-10	35118851	77227974	25303418	75	47418											
AMDHD2	51005	hgsc.bcm.edu	37	16	2577574	2577574	+	Missense_Mutation	SNP	A	A	C			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr16:2577574A>C	ENST00000293971.6	+	4	467	c.373A>C	c.(373-375)Atc>Ctc	p.I125L	AMDHD2_ENST00000565570.1_Intron|ATP6C_ENST00000569317.1_Missense_Mutation_p.I78L|AMDHD2_ENST00000302956.4_Missense_Mutation_p.I125L|AMDHD2_ENST00000413459.3_Missense_Mutation_p.I125L|CEMP1_ENST00000382350.1_Intron	NM_015944.3	NP_057028.2	Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2	125					carbohydrate metabolic process (GO:0005975)|N-acetylglucosamine metabolic process (GO:0006044)|N-acetylneuraminate catabolic process (GO:0019262)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|N-acetylglucosamine-6-phosphate deacetylase activity (GO:0008448)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						TGTTCCTCAGATCCCTGTGAA	0.647																																																0													82	64	70					16																	2577574		2197	4300	6497	SO:0001583	missense	51005			AF132948	CCDS10471.1, CCDS53984.1	16p13.3	2008-02-05			ENSG00000162066	ENSG00000162066			24262	protein-coding gene	gene with protein product						10810093	Standard	NM_001145815		Approved	CGI-14	uc010uwc.2	Q9Y303	OTTHUMG00000128866	ENST00000293971.6:c.373A>C	chr16.hg19:g.2577574A>C	ENSP00000293971:p.Ile125Leu		B4DL77|Q8WV54	Missense_Mutation	SNP	ENST00000293971.6	hg19		.	.	.	.	.	.	.	.	.	.	A	7.181	0.589511	0.13812	.	.	ENSG00000162066	ENST00000413459;ENST00000302956;ENST00000293971	T;T;T	0.08193	3.12;3.12;3.12	5.09	5.09	0.68999	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	0.164761	0.53938	D	0.000047	T	0.06234	0.0161	N	0.12527	0.23	0.80722	D	1	B;B;B	0.23249	0.082;0.011;0.004	B;B;B	0.28553	0.091;0.044;0.026	T	0.44467	-0.9326	10	0.30078	T	0.28	-19.5213	13.8369	0.63415	1.0:0.0:0.0:0.0	.	125;125;125	Q9Y303-3;Q9Y303;Q9Y303-2	.;NAGA_HUMAN;.	L	125	ENSP00000391596:I125L;ENSP00000307481:I125L;ENSP00000293971:I125L	ENSP00000293971:I125L	I	+	1	0	AMDHD2	2517575	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.941000	0.49011	2.142000	0.66516	0.459000	0.35465	ATC		0.647	AMDHD2-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000435652.1	NM_015944		C	2577574	A	C	2577574	3	2	795	1	0	0	0	0	1	0	0	0	568	333	12	5	387	5	AMDHD2	16	2577574	Missense_Mutation	SNP	A	TCGA-SX-A7SS-01A-11D-A35Z-10		2577574	87777179	76	47419											
ABCC6	368	hgsc.bcm.edu	37	16	16267179	16267179	+	Nonsense_Mutation	SNP	C	C	A			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr16:16267179C>A	ENST00000205557.7	-	21	2778	c.2749G>T	c.(2749-2751)Gga>Tga	p.G917*		NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	917					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)	GCTGGCCATCCTGCCCTGTCA	0.577																																																0													118	98	105					16																	16267179		2197	4300	6497	SO:0001587	stop_gained	368			AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"ATP binding cassette transporters / subfamily C"	57	protein-coding gene	gene with protein product		603234	"pseudoxanthoma elasticum"	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.2749G>T	chr16.hg19:g.16267179C>A	ENSP00000205557:p.Gly917*		A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Nonsense_Mutation	SNP	ENST00000205557.7	hg19	CCDS10568.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.808638|5.808638	0.96967|0.96967	.|.	.|.	ENSG00000091262|ENSG00000091262	ENST00000205557|ENST00000456970	.|D	.|0.90385	.|-2.66	4.54|4.54	2.57|2.57	0.30868|0.30868	.|.	0.145914|.	0.30940|.	U|.	0.008566|.	.|D	.|0.89160	.|0.6636	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999995|0.999995	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.80984	.|-0.1138	.|6	0.42905|0.66056	T|D	0.14|0.02	.|.	7.0018|7.0018	0.24813|0.24813	0.0:0.786:0.0:0.214|0.0:0.786:0.0:0.214	.|.	.|.	.|.	.|.	X|H	917|858	.|ENSP00000405002:Q858H	ENSP00000205557:G917X|ENSP00000405002:Q858H	G|Q	-|-	1|3	0|2	ABCC6|ABCC6	16174680|16174680	0.497000|0.497000	0.26067|0.26067	0.002000|0.002000	0.10522|0.10522	0.014000|0.014000	0.08584|0.08584	0.950000|0.950000	0.29122|0.29122	0.366000|0.366000	0.24427|0.24427	0.542000|0.542000	0.68232|0.68232	GGA|CAG		0.577	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2			A	16267179	C	A	16267179	4	1	795	1	0	0	0	0	0	1	0	0	57	690	24	4	1806	4	ABCC6	16	16267179	Nonsense_Mutation	SNP	C	TCGA-SX-A7SS-01A-11D-A35Z-10	13689605	16267179	74087574	77	47420											
PALB2	79728	hgsc.bcm.edu	37	16	23641617	23641624	+	Frame_Shift_Del	DEL	CAAAGTCT	CAAAGTCT	-			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	CAAAGTCT	CAAAGTCT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr16:23641617_23641624delCAAAGTCT	ENST00000261584.4	-	5	2003_2010	c.1851_1858delAGACTTTG	c.(1849-1860)gaagactttggafs	p.DFG618fs		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	618					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)		TTAAGAGGTCCAAAGTCTTCATCAGGTA	0.413			"F, N, Mis"			"Wilms tumor, medulloblastoma, AML ,breast"		Involved in tolerance or repair of DNA crosslinks																														yes	Rec		"Fanconi anaemia N, breast cancer susceptibility "	16	16p12.1	79728	partner and localizer of BRCA2		"L, O, E"	0																																										SO:0001589	frameshift_variant	79728				CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093		"Fanconi anemia, complementation groups"	26144	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group N"	610355				16793542, 17200672	Standard	NM_024675		Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.1851_1858delAGACTTTG	chr16.hg19:g.23641617_23641624delCAAAGTCT	ENSP00000261584:p.Asp618fs		A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Frame_Shift_Del	DEL	ENST00000261584.4	hg19	CCDS32406.1																																																																																				0.413	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435287.2	NM_024675		-	23641624	CAAAGTCT	-	23641617	7	5	795	1	0	1	0	1	0	0	0	0	11408	603	21	0	1738	0	PALB2	16	23641617	Frame_Shift_Del	DEL	CAAAGTCT	TCGA-SX-A7SS-01A-11D-A35Z-10	7374438	23641617	66713136	78	47421											
TAOK2	9344	hgsc.bcm.edu	37	16	29998173	29998173	+	Missense_Mutation	SNP	C	C	A			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr16:29998173C>A	ENST00000308893.4	+	16	3623	c.2580C>A	c.(2578-2580)agC>agA	p.S860R	TAOK2_ENST00000543033.1_Missense_Mutation_p.S747R|TAOK2_ENST00000416441.2_Missense_Mutation_p.S687R|TAOK2_ENST00000279394.3_Intron	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	860	Glu-rich.				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						AGGAGAGGAGCATTGTTGGCC	0.577																																																0													98	98	98					16																	29998173		2197	4300	6497	SO:0001583	missense	9344			AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.2580C>A	chr16.hg19:g.29998173C>A	ENSP00000310094:p.Ser860Arg		A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Missense_Mutation	SNP	ENST00000308893.4	hg19	CCDS10663.1	.	.	.	.	.	.	.	.	.	.	C	6.082	0.383409	0.11524	.	.	ENSG00000149930	ENST00000308893;ENST00000543033	T;T	0.69926	-0.44;-0.44	5.32	3.28	0.37604	.	0.497301	0.18706	N	0.133460	T	0.37625	0.1010	N	0.03608	-0.345	0.18873	N	0.999988	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.09377	0.001;0.004;0.001	T	0.17806	-1.0357	9	.	.	.	.	8.0473	0.30557	0.0:0.6917:0.2053:0.103	.	1051;687;860	Q86V37;Q9UL54-3;Q9UL54	.;.;TAOK2_HUMAN	R	860;747	ENSP00000310094:S860R;ENSP00000440336:S747R	.	S	+	3	2	TAOK2	29905674	0.995000	0.38212	0.991000	0.47740	0.900000	0.52787	1.367000	0.34204	1.225000	0.43566	0.563000	0.77884	AGC		0.577	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		A	29998173	C	A	29998173	3	1	795	1	0	0	0	0	1	0	0	0	15553	709	25	4	2638	4	TAOK2	16	29998173	Missense_Mutation	SNP	C	TCGA-SX-A7SS-01A-11D-A35Z-10	6356556	29998173	60356580	79	47422											
HYDIN	54768	hgsc.bcm.edu	37	16	71101222	71101222	+	Silent	SNP	T	T	C			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr16:71101222T>C	ENST00000393567.2	-	15	2196	c.2046A>G	c.(2044-2046)gaA>gaG	p.E682E	HYDIN_ENST00000543639.1_5'Flank|HYDIN_ENST00000393550.2_Silent_p.E697E|HYDIN_ENST00000448089.2_Silent_p.E682E|HYDIN_ENST00000541601.1_Silent_p.E699E|HYDIN_ENST00000448691.1_Silent_p.E682E|HYDIN_ENST00000538248.1_Silent_p.E709E|HYDIN_ENST00000288168.10_Silent_p.E699E|HYDIN_ENST00000321489.5_Silent_p.E682E	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	682					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)				CCAGCACCTCTTCTCCGATGC	0.547																																																0													69	61	64					16																	71101222		2198	4300	6498	SO:0001819	synonymous_variant	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.2046A>G	chr16.hg19:g.71101222T>C			A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	hg19	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	T	9.980	1.227788	0.22542	.	.	ENSG00000157423	ENST00000542890	.	.	.	4.99	-0.229	0.13094	.	.	.	.	.	T	0.50497	0.1619	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37009	-0.9724	4	.	.	.	.	5.1347	0.14928	0.1409:0.3851:0.0:0.4739	.	.	.	.	R	84	.	.	K	-	2	0	HYDIN	69658723	0.998000	0.40836	0.999000	0.59377	0.982000	0.71751	0.373000	0.20484	-0.024000	0.13941	0.491000	0.48974	AAG		0.547	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			C	71101222	T	C	71101222	2	2	795	1	0	0	0	0	0	0	0	1	7469	1606	56	3		3	HYDIN	16	71101222	Silent	SNP	T	TCGA-SX-A7SS-01A-11D-A35Z-10	41103049	71101222	19253531	80	47423											
LRRC50	123872	hgsc.bcm.edu	37	16	84189316	84189316	+	Missense_Mutation	SNP	C	C	T			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr16:84189316C>T	ENST00000378553.5	+	5	827	c.703C>T	c.(703-705)Ccg>Tcg	p.P235S	DNAAF1_ENST00000334315.5_Missense_Mutation_p.P235S	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	235					axonemal dynein complex assembly (GO:0070286)|cilium morphogenesis (GO:0060271)|cilium movement (GO:0003341)|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)|inner dynein arm assembly (GO:0036159)|left/right pattern formation (GO:0060972)|lung development (GO:0030324)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|regulation of cilium beat frequency (GO:0003356)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dynein binding (GO:0045502)			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						GCTGAGTGACCCGGAGATCCT	0.453																																																0													127	103	111					16																	84189316		2200	4300	6500	SO:0001583	missense	123872			BC024009	CCDS10943.2	16q24.1	2012-05-03	2011-06-09	2011-06-09	ENSG00000154099	ENSG00000154099			30539	protein-coding gene	gene with protein product	"outer row dynein assembly 7 homolog (Chlamydomonas)"	613190	"leucine rich repeat containing 50"	LRRC50		19944405	Standard	NM_178452		Approved	FLJ25330, ODA7, CILD13	uc002fhl.4	Q8NEP3	OTTHUMG00000128517	ENST00000378553.5:c.703C>T	chr16.hg19:g.84189316C>T	ENSP00000367815:p.Pro235Ser		B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6	Missense_Mutation	SNP	ENST00000378553.5	hg19	CCDS10943.2	.	.	.	.	.	.	.	.	.	.	C	14.51	2.555524	0.45487	.	.	ENSG00000154099	ENST00000334315;ENST00000378553	T;T	0.21031	2.03;2.03	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.26521	0.0648	L	0.55481	1.735	0.58432	D	0.999997	P	0.35542	0.508	B	0.39531	0.302	T	0.02925	-1.1093	10	0.22706	T	0.39	-13.7883	18.3021	0.90167	0.0:1.0:0.0:0.0	.	235	Q8NEP3	DAAF1_HUMAN	S	235	ENSP00000334593:P235S;ENSP00000367815:P235S	ENSP00000334593:P235S	P	+	1	0	DNAAF1	82746817	1.000000	0.71417	0.121000	0.21740	0.027000	0.11550	7.358000	0.79466	2.318000	0.78349	0.655000	0.94253	CCG		0.453	DNAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250328.3	NM_178452		T	84189316	C	T	84189316	3	4	795	1	0	0	0	0	1	0	0	0	9011	623	22	2	721	2	LRRC50	16	84189316	Missense_Mutation	SNP	C	TCGA-SX-A7SS-01A-11D-A35Z-10	13088094	84189316	6165437	81	47424											
USP10	9100	hgsc.bcm.edu	37	16	84778731	84778731	+	Missense_Mutation	SNP	C	C	T			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr16:84778731C>T	ENST00000219473.7	+	4	757	c.644C>T	c.(643-645)tCc>tTc	p.S215F	USP10_ENST00000570191.1_Missense_Mutation_p.S219F|USP10_ENST00000562743.1_3'UTR	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	215					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						CCCCAGAACTCCACAGACTCT	0.592																																																0													25	25	25					16																	84778731		1967	4145	6112	SO:0001583	missense	9100			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.644C>T	chr16.hg19:g.84778731C>T	ENSP00000219473:p.Ser215Phe		B2RDJ8|B4DS84|Q9BWG7|Q9NSL7	Missense_Mutation	SNP	ENST00000219473.7	hg19	CCDS45537.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.896996	0.33535	.	.	ENSG00000103194	ENST00000219473	T	0.07800	3.16	5.17	5.17	0.71159	.	1.000500	0.08066	N	0.999021	T	0.09379	0.0231	L	0.35414	1.06	0.32033	N	0.59923	B;B	0.14012	0.009;0.001	B;B	0.13407	0.009;0.002	T	0.03773	-1.1005	10	0.51188	T	0.08	-3.5155	11.1822	0.48636	0.0:0.916:0.0:0.084	.	219;215	Q14694-3;Q14694	.;UBP10_HUMAN	F	215	ENSP00000219473:S215F	ENSP00000219473:S215F	S	+	2	0	USP10	83336232	1.000000	0.71417	0.054000	0.19295	0.728000	0.41692	4.964000	0.63701	2.403000	0.81681	0.491000	0.48974	TCC		0.592	USP10-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433660.1			T	84778731	C	T	84778731	3	4	795	1	0	0	0	0	1	0	0	0	17046	855	30	2	658	2	USP10	16	84778731	Missense_Mutation	SNP	C	TCGA-SX-A7SS-01A-11D-A35Z-10	589415	84778731	5576022	82	47425											
MYH4	4622	hgsc.bcm.edu	37	17	10366192	10366192	+	Missense_Mutation	SNP	A	A	T			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr17:10366192A>T	ENST00000255381.2	-	11	1108	c.998T>A	c.(997-999)aTg>aAg	p.M333K	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	333	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						ATCTGTGGCCATCAGCTCTTC	0.428																																																0													118	112	114					17																	10366192		2203	4300	6503	SO:0001583	missense	4622				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.998T>A	chr17.hg19:g.10366192A>T	ENSP00000255381:p.Met333Lys			Missense_Mutation	SNP	ENST00000255381.2	hg19	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	A	14.32	2.499918	0.44455	.	.	ENSG00000141048	ENST00000255381	D	0.85629	-2.01	5.37	5.37	0.77165	Myosin head, motor domain (2);	0.320982	0.21520	U	0.073229	T	0.70439	0.3224	N	0.10809	0.05	0.49299	D	0.999774	B	0.02656	0.0	B	0.06405	0.002	T	0.65957	-0.6042	10	0.06365	T	0.9	.	15.6589	0.77165	1.0:0.0:0.0:0.0	.	333	Q9Y623	MYH4_HUMAN	K	333	ENSP00000255381:M333K	ENSP00000255381:M333K	M	-	2	0	MYH4	10306917	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.108000	0.71522	2.153000	0.67306	0.528000	0.53228	ATG		0.428	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		T	10366192	A	T	10366192	3	4	795	1	0	0	0	0	1	0	0	0	10039	217	8	5	4941	5	MYH4	17	10366192	Missense_Mutation	SNP	A	TCGA-SX-A7SS-01A-11D-A35Z-10		10366192	70829018	83	47426											
SRCIN1	80725	hgsc.bcm.edu	37	17	36708714	36708714	+	Missense_Mutation	SNP	C	C	T	rs370322301		TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr17:36708714C>T	ENST00000264659.7	-	13	2673	c.2449G>A	c.(2449-2451)Ggg>Agg	p.G817R	SRCIN1_ENST00000578925.1_Missense_Mutation_p.G851R|SRCIN1_ENST00000398579.4_5'UTR	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	689					exocytosis (GO:0006887)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell migration (GO:0030334)|regulation of dendritic spine morphogenesis (GO:0061001)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	protein kinase binding (GO:0019901)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						TCCGTGACCCCGCGGCAGCGC	0.637																																																0								C	ARG/GLY	0,4048		0,0,2024	15	18	17		2449	4.1	0.9	17		17	1,8363		0,1,4181	no	missense	SRCIN1	NM_025248.2	125	0,1,6205	TT,TC,CC		0.012,0.0,0.0081	benign	817/1184	36708714	1,12411	2024	4182	6206	SO:0001583	missense	80725				CCDS45660.1	17q12	2009-12-14			ENSG00000017373	ENSG00000277363			29506	protein-coding gene	gene with protein product	"p130Cas-associated protein", "SNAP-25-interacting protein"	610786				11214970	Standard	NM_025248		Approved	SNIP, p140Cap, KIAA1684	uc002hqd.3	Q9C0H9		ENST00000264659.7:c.2449G>A	chr17.hg19:g.36708714C>T	ENSP00000264659:p.Gly817Arg		Q75T46|Q8N4W8	Missense_Mutation	SNP	ENST00000264659.7	hg19	CCDS45660.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.071632	0.55646	0.0	1.2E-4	ENSG00000017373	ENST00000264659;ENST00000542707;ENST00000398579	T;T	0.45276	0.9;0.93	5.05	4.09	0.47781	.	0.339539	0.30302	N	0.009923	T	0.31327	0.0793	L	0.40543	1.245	0.31267	N	0.692233	P;P;P;P	0.48503	0.911;0.709;0.813;0.489	B;B;B;B	0.41412	0.356;0.141;0.213;0.141	T	0.30446	-0.9978	10	0.27082	T	0.32	-17.7161	8.7631	0.34687	0.0:0.8266:0.0:0.1734	.	123;689;689;817	Q9C0H9-4;Q9C0H9-2;Q9C0H9;Q9C0H9-5	.;.;SRCN1_HUMAN;.	R	817;598;671	ENSP00000264659:G817R;ENSP00000445368:G598R	ENSP00000264659:G817R	G	-	1	0	SRCIN1	33962240	0.973000	0.33851	0.921000	0.36526	0.977000	0.68977	2.487000	0.45268	1.362000	0.46000	0.561000	0.74099	GGG		0.637	SRCIN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441878.4	NM_025248		T	36708714	C	T	36708714	3	4	795	1	0	0	0	0	1	0	0	0	15141	652	23	1	1130	1	SRCIN1	17	36708714	Missense_Mutation	SNP	C	TCGA-SX-A7SS-01A-11D-A35Z-10	26342522	36708714	44486496	84	47427											
KRT19	3880	hgsc.bcm.edu	37	17	39684113	39684113	+	Frame_Shift_Del	DEL	G	G	-			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr17:39684113delG	ENST00000361566.3	-	1	447	c.387delC	c.(385-387)cacfs	p.H129fs		NM_002276.4	NP_002267.2	P08727	K1C19_HUMAN	keratin 19	129	Linker 1.|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)				TCGTGTAGTAGTGGCTGTAGT	0.706																																																0													28	35	33					17																	39684113		2199	4298	6497	SO:0001589	frameshift_variant	3880				CCDS11399.1	17q21.2	2013-06-20			ENSG00000171345	ENSG00000171345		"-", "Intermediate filaments type I, keratins (acidic)"	6436	protein-coding gene	gene with protein product	"keratin, type I cytoskeletal 19", "keratin, type I, 40-kd", "cytokeratin 19", "40-kDa keratin intermediate filament"	148020				16831889	Standard	NM_002276		Approved	K19, CK19, K1CS, MGC15366		P08727	OTTHUMG00000133422	ENST00000361566.3:c.387delC	chr17.hg19:g.39684113delG	ENSP00000355124:p.His129fs		B2R874|Q5XG83|Q6NW33|Q7L5M9|Q96A53|Q96FV1|Q9BYF9|Q9P1Y4	Frame_Shift_Del	DEL	ENST00000361566.3	hg19	CCDS11399.1																																																																																				0.706	KRT19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257285.1	NM_002276		-	39684113	G	-	39684113	7	5	795	1	0	1	0	1	0	0	0	0	8458	1020	36	0	839	0	KRT19	17	39684113	Frame_Shift_Del	DEL	G	TCGA-SX-A7SS-01A-11D-A35Z-10	2975399	39684113	41511097	85	47428											
NBR1	4077	hgsc.bcm.edu	37	17	41343586	41343586	+	Missense_Mutation	SNP	C	C	G			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr17:41343586C>G	ENST00000422280.1	+	10	1520	c.1061C>G	c.(1060-1062)tCt>tGt	p.S354C	NBR1_ENST00000389312.4_Missense_Mutation_p.S354C|NBR1_ENST00000590996.1_Missense_Mutation_p.S354C|NBR1_ENST00000589872.1_Missense_Mutation_p.S354C|NBR1_ENST00000542611.1_Missense_Mutation_p.S333C|NBR1_ENST00000341165.6_Missense_Mutation_p.S354C	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	354					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)		TTGCTCCAGTCTAATACCCTG	0.478																																																0													27	26	27					17																	41343586		1840	4090	5930	SO:0001583	missense	4077			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.1061C>G	chr17.hg19:g.41343586C>G	ENSP00000411250:p.Ser354Cys		Q13173|Q15026|Q5J7Q8|Q96GB6|Q9NRF7	Missense_Mutation	SNP	ENST00000422280.1	hg19	CCDS45694.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.739376	0.49045	.	.	ENSG00000188554	ENST00000422280;ENST00000542611;ENST00000341165;ENST00000389312;ENST00000389311	T;T;T;T	0.49432	1.36;0.78;1.36;1.36	5.37	5.37	0.77165	.	0.426202	0.26824	N	0.022311	T	0.51312	0.1667	N	0.25647	0.755	0.09310	N	1	D;D;D;D	0.65815	0.995;0.995;0.995;0.995	P;P;P;P	0.58820	0.784;0.784;0.846;0.784	T	0.48502	-0.9030	10	0.66056	D	0.02	-6.7866	13.8872	0.63714	0.1516:0.8484:0.0:0.0	.	354;333;354;354	A8K1U0;B7Z5R6;Q14596-2;Q14596	.;.;.;NBR1_HUMAN	C	354;333;354;354;354	ENSP00000411250:S354C;ENSP00000437545:S333C;ENSP00000343479:S354C;ENSP00000373963:S354C	ENSP00000343479:S354C	S	+	2	0	NBR1	38597112	0.968000	0.33430	0.920000	0.36463	0.709000	0.40893	2.358000	0.44134	2.528000	0.85240	0.655000	0.94253	TCT		0.478	NBR1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453461.1	NM_005899		G	41343586	C	G	41343586	3	3	795	1	0	0	0	0	1	0	0	0	10202	913	32	4	1095	4	NBR1	17	41343586	Missense_Mutation	SNP	C	TCGA-SX-A7SS-01A-11D-A35Z-10	1659473	41343586	39851624	86	47429											
MAP3K3	4215	hgsc.bcm.edu	37	17	61767096	61767096	+	Splice_Site	SNP	G	G	A			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr17:61767096G>A	ENST00000361733.3	+	11	1383		c.e11+1		MAP3K3_ENST00000361357.3_Splice_Site|MAP3K3_ENST00000577395.1_Splice_Site|MAP3K3_ENST00000584573.1_Splice_Site|MAP3K3_ENST00000579585.1_Splice_Site	NM_002401.3	NP_002392.2	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3						activation of MAPKK activity (GO:0000186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein autophosphorylation (GO:0046777)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						CCAACCAAGTGTGAGGAGCTG	0.632																																																0													34	31	32					17																	61767096		2203	4300	6503	SO:0001630	splice_region_variant	4215			U78876	CCDS32701.1, CCDS32702.1	17q	2011-06-09				ENSG00000198909		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6855	protein-coding gene	gene with protein product	"MAP/ERK kinase kinase 3", "MAPK/ERK kinase kinase 3"	602539		MEKK3		9006902	Standard	NM_002401		Approved	MAPKKK3	uc002jbf.3	Q99759		ENST00000361733.3:c.1063+1G>A	chr17.hg19:g.61767096G>A			B2RCW2|D3DU15|Q5BKZ6|Q8N3I9	Splice_Site	SNP	ENST00000361733.3	hg19	CCDS32702.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.591205	0.86851	.	.	ENSG00000198909	ENST00000361357;ENST00000361733	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4437	0.94838	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAP3K3	59120828	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.685000	0.84117	2.600000	0.87896	0.561000	0.74099	.		0.632	MAP3K3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000443867.1	NM_002401	Intron	A	61767096	G	A	61767096	5	1	795	1	0	0	0	0	0	0	1	0	9253	1391	48	2	1203	2	MAP3K3	17	61767096	Splice_Site	SNP	G	TCGA-SX-A7SS-01A-11D-A35Z-10	20423510	61767096	19428114	87	47430											
QRICH2	84074	hgsc.bcm.edu	37	17	74288747	74288747	+	Silent	SNP	C	C	T			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr17:74288747C>T	ENST00000262765.5	-	4	1742	c.1563G>A	c.(1561-1563)caG>caA	p.Q521Q		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	521	Gln-rich.									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						CCAAGCCAGGCTGATATGCAC	0.537																																																0													151	124	133					17																	74288747		2203	4300	6503	SO:0001819	synonymous_variant	84074			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.1563G>A	chr17.hg19:g.74288747C>T			A2RRE1|Q96LM3	Silent	SNP	ENST00000262765.5	hg19	CCDS32741.1																																																																																				0.537	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134		T	74288747	C	T	74288747	2	4	795	1	0	0	0	0	0	0	0	1	12886	796	28	2		2	QRICH2	17	74288747	Silent	SNP	C	TCGA-SX-A7SS-01A-11D-A35Z-10	12521651	74288747	6906463	88	47431											
FSCN2	25794	hgsc.bcm.edu	37	17	79503808	79503808	+	Silent	SNP	G	G	A			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr17:79503808G>A	ENST00000417245.2	+	4	1402	c.1266G>A	c.(1264-1266)cgG>cgA	p.R422R	FSCN2_ENST00000334850.7_Silent_p.R446R	NM_001077182.2|NM_012418.3	NP_001070650.1|NP_036550.1	O14926	FSCN2_HUMAN	fascin actin-bundling protein 2, retinal	422					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|anatomical structure morphogenesis (GO:0009653)|eye photoreceptor cell development (GO:0042462)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|stereocilium (GO:0032420)	actin binding (GO:0003779)|actin filament binding (GO:0051015)			endometrium(1)|lung(1)|prostate(1)|urinary_tract(1)	4	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			GCGCCTACCGGATCCGAGGTG	0.741																																																0													8	10	10					17																	79503808		1928	4087	6015	SO:0001819	synonymous_variant	25794			AF030165	CCDS45810.1, CCDS45811.1	17q25	2014-02-03	2014-02-03		ENSG00000186765	ENSG00000186765		"Fascins"	3960	protein-coding gene	gene with protein product		607643	"fascin (Strongylocentrotus purpuratus) homolog 2 (actin-bundling protein, retinal)", "fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)"			10234509	Standard	NM_012418		Approved	RP30, RFSN	uc010wuo.2	O14926	OTTHUMG00000167477	ENST00000417245.2:c.1266G>A	chr17.hg19:g.79503808G>A			A0AVC4|A8MRA6	Silent	SNP	ENST00000417245.2	hg19	CCDS45811.1																																																																																				0.741	FSCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394746.1	NM_012418		A	79503808	G	A	79503808	2	1	795	1	0	0	0	0	0	0	0	1	6070	1161	41	2		2	FSCN2	17	79503808	Silent	SNP	G	TCGA-SX-A7SS-01A-11D-A35Z-10	5215061	79503808	1691402	89	47432											
ROCK1	6093	hgsc.bcm.edu	37	18	18624118	18624118	+	Missense_Mutation	SNP	T	T	A			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr18:18624118T>A	ENST00000399799.2	-	6	1560	c.620A>T	c.(619-621)gAt>gTt	p.D207V		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	207	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)					TCCAGATTTATCCAGCAGCAT	0.323																																																0													106	113	110					18																	18624118		2203	4300	6503	SO:0001583	missense	6093				CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"Pleckstrin homology (PH) domain containing"	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.620A>T	chr18.hg19:g.18624118T>A	ENSP00000382697:p.Asp207Val		B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	ENST00000399799.2	hg19	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	T	25.7	4.660341	0.88154	.	.	ENSG00000067900	ENST00000399799	T	0.32753	1.44	4.91	4.91	0.64330	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	0.54838	0.1883	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.59941	-0.7359	10	0.87932	D	0	.	14.6987	0.69142	0.0:0.0:0.0:1.0	.	207	Q13464	ROCK1_HUMAN	V	207	ENSP00000382697:D207V	ENSP00000382697:D207V	D	-	2	0	ROCK1	16878116	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.834000	0.86773	2.035000	0.60131	0.528000	0.53228	GAT		0.323	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406		A	18624118	T	A	18624118	3	1	795	1	0	0	0	0	1	0	0	0	13523	1435	50	5	3556	5	ROCK1	18	18624118	Missense_Mutation	SNP	T	TCGA-SX-A7SS-01A-11D-A35Z-10		18624118	59453130	90	47433											
DCC	1630	hgsc.bcm.edu	37	18	50589777	50589777	+	Missense_Mutation	SNP	A	A	C			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr18:50589777A>C	ENST00000442544.2	+	6	1704	c.1088A>C	c.(1087-1089)aAt>aCt	p.N363T	DCC_ENST00000581580.1_Missense_Mutation_p.N18T|DCC_ENST00000412726.1_Missense_Mutation_p.N211T|DCC_ENST00000580146.1_3'UTR	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	363	Ig-like C2-type 4.				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)		CCCACTGTGAATTGGATGAAG	0.363																																																0													258	236	244					18																	50589777		2203	4300	6503	SO:0001583	missense	1630			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.1088A>C	chr18.hg19:g.50589777A>C	ENSP00000389140:p.Asn363Thr			Missense_Mutation	SNP	ENST00000442544.2	hg19	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	A	13.52	2.262590	0.39995	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T	0.64991	-0.13;-0.13	5.95	5.95	0.96441	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.127696	0.53938	D	0.000048	T	0.24699	0.0599	N	0.00077	-2.24	0.35591	D	0.807111	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.16289	0.006;0.006;0.015	T	0.40079	-0.9582	10	0.25751	T	0.34	.	15.3941	0.74778	1.0:0.0:0.0:0.0	.	211;211;363	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	T	363;296;211	ENSP00000389140:N363T;ENSP00000397322:N211T	ENSP00000304146:N296T	N	+	2	0	DCC	48843775	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.881000	0.56152	2.276000	0.75962	0.528000	0.53228	AAT		0.363	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		C	50589777	A	C	50589777	3	2	795	1	0	0	0	0	1	0	0	0	4284	101	4	5	1110	5	DCC	18	50589777	Missense_Mutation	SNP	A	TCGA-SX-A7SS-01A-11D-A35Z-10	31965659	50589777	27487471	91	47434											
RAX	30062	hgsc.bcm.edu	37	18	56936510	56936510	+	Missense_Mutation	SNP	G	G	C	rs568443004	byFrequency	TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr18:56936510G>C	ENST00000334889.3	-	3	953	c.767C>G	c.(766-768)gCg>gGg	p.A256G	RAX_ENST00000256852.7_3'UTR	NM_013435.2	NP_038463.2	Q9Y2V3	RX_HUMAN	retina and anterior neural fold homeobox	256					camera-type eye development (GO:0043010)|hypothalamus development (GO:0021854)|limb development (GO:0060173)|pattern specification process (GO:0007389)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6		Lung NSC(161;0.0804)|Colorectal(73;0.0946)		STAD - Stomach adenocarcinoma(84;0.18)		GCTCTGCAGCGCCGTggcgcc	0.821																																					GBM(150;770 1898 17679 24325 37807)											0													1	2	2					18																	56936510		490	1309	1799	SO:0001583	missense	30062			AF115392	CCDS11972.1	18q21.31	2011-06-20			ENSG00000134438	ENSG00000134438		"Homeoboxes / PRD class"	18662	protein-coding gene	gene with protein product		601881				10625658, 10766016, 14662654	Standard	NM_013435		Approved	RX	uc002lhx.3	Q9Y2V3	OTTHUMG00000132757	ENST00000334889.3:c.767C>G	chr18.hg19:g.56936510G>C	ENSP00000334813:p.Ala256Gly		Q86V11	Missense_Mutation	SNP	ENST00000334889.3	hg19	CCDS11972.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.133512	0.56828	.	.	ENSG00000134438	ENST00000334889	D	0.89746	-2.56	4.16	4.16	0.48862	.	0.386572	0.29218	N	0.012795	D	0.86460	0.5938	L	0.55481	1.735	0.43846	D	0.996431	B	0.27166	0.17	B	0.26693	0.072	D	0.85448	0.1159	10	0.49607	T	0.09	.	15.204	0.73162	0.0:0.0:1.0:0.0	.	256	Q9Y2V3	RX_HUMAN	G	256	ENSP00000334813:A256G	ENSP00000334813:A256G	A	-	2	0	RAX	55087490	0.943000	0.32029	0.727000	0.30756	0.605000	0.37080	5.576000	0.67437	1.854000	0.53819	0.561000	0.74099	GCG		0.821	RAX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256128.2			C	56936510	G	C	56936510	3	2	795	1	0	0	0	0	1	0	0	0	13102	1087	38	4	277	4	RAX	18	56936510	Missense_Mutation	SNP	G	TCGA-SX-A7SS-01A-11D-A35Z-10	6346733	56936510	21140738	92	47435											
FSD1	79187	hgsc.bcm.edu	37	19	4306010	4306010	+	Missense_Mutation	SNP	C	C	A			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr19:4306010C>A	ENST00000221856.6	+	2	230	c.83C>A	c.(82-84)tCc>tAc	p.S28Y	FSD1_ENST00000597590.1_Missense_Mutation_p.S28Y	NM_024333.2	NP_077309.1	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing 1	28					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)		TTTATCTACTCCCTGAAACAG	0.547																																																0													135	134	134					19																	4306010		2203	4300	6503	SO:0001583	missense	79187			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.83C>A	chr19.hg19:g.4306010C>A	ENSP00000221856:p.Ser28Tyr		B2RDT0|Q9BXN0|Q9HAG4	Missense_Mutation	SNP	ENST00000221856.6	hg19	CCDS12127.1	.	.	.	.	.	.	.	.	.	.	C	15.06	2.720049	0.48728	.	.	ENSG00000105255	ENST00000221856	T	0.47528	0.84	4.22	4.22	0.49857	B-box, C-terminal (1);	0.397945	0.25189	N	0.032470	T	0.49167	0.1541	L	0.46157	1.445	0.37051	D	0.897617	P;P	0.50528	0.936;0.823	P;P	0.50708	0.648;0.492	T	0.59584	-0.7427	10	0.72032	D	0.01	.	10.2079	0.43124	0.0:0.7967:0.2032:0.0	.	15;28	B4DIC5;Q9BTV5	.;FSD1_HUMAN	Y	28	ENSP00000221856:S28Y	ENSP00000221856:S28Y	S	+	2	0	FSD1	4257010	0.966000	0.33281	1.000000	0.80357	0.598000	0.36846	1.937000	0.40193	1.912000	0.55364	0.491000	0.48974	TCC		0.547	FSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458091.1	NM_024333		A	4306010	C	A	4306010	3	1	795	1	0	0	0	0	1	0	0	0	6072	855	30	4	89	4	FSD1	19	4306010	Missense_Mutation	SNP	C	TCGA-SX-A7SS-01A-11D-A35Z-10		4306010	54822973	93	47436											
TMEM146	257062	hgsc.bcm.edu	37	19	5739405	5739405	+	Silent	SNP	A	A	T			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr19:5739405A>T	ENST00000381624.3	+	7	589	c.528A>T	c.(526-528)tcA>tcT	p.S176S	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	176					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)											TATATTATTCAAATACTGGGG	0.294																																																0													85	84	85					19																	5739405		1795	4076	5871	SO:0001819	synonymous_variant	257062			BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"transmembrane protein 146"	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.528A>T	chr19.hg19:g.5739405A>T			Q6ZRP1	Silent	SNP	ENST00000381624.3	hg19	CCDS12149.2																																																																																				0.294	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784		T	5739405	A	T	5739405	2	4	795	1	0	0	0	0	0	0	0	1	16065	117	5	5		5	TMEM146	19	5739405	Silent	SNP	A	TCGA-SX-A7SS-01A-11D-A35Z-10	1433395	5739405	53389578	94	47437											
MUC16	94025	hgsc.bcm.edu	37	19	9068211	9068211	+	Missense_Mutation	SNP	T	T	C			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr19:9068211T>C	ENST00000397910.4	-	3	19438	c.19235A>G	c.(19234-19236)cAa>cGa	p.Q6412R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6414	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						TTCAGTGCCTTGGATGGATGT	0.483																																																0													178	178	178					19																	9068211		2041	4183	6224	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.19235A>G	chr19.hg19:g.9068211T>C	ENSP00000381008:p.Gln6412Arg		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	hg19	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	2.917	-0.224039	0.06061	.	.	ENSG00000181143	ENST00000397910	T	0.02323	4.34	2.15	-3.61	0.04556	.	.	.	.	.	T	0.01489	0.0048	N	0.08118	0	.	.	.	B	0.18310	0.027	B	0.13407	0.009	T	0.45745	-0.9240	8	0.87932	D	0	.	3.206	0.06666	0.2279:0.0:0.3944:0.3778	.	6412	B5ME49	.	R	6412	ENSP00000381008:Q6412R	ENSP00000381008:Q6412R	Q	-	2	0	MUC16	8929211	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.511000	0.06321	-1.244000	0.02516	-1.830000	0.00593	CAA		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		C	9068211	T	C	9068211	3	2	795	1	0	0	0	0	1	0	0	0	9975	1812	63	3	24616	3	MUC16	19	9068211	Missense_Mutation	SNP	T	TCGA-SX-A7SS-01A-11D-A35Z-10	3328806	9068211	50060772	95	47438											
ZNF490	57474	hgsc.bcm.edu	37	19	12693708	12693709	+	Frame_Shift_Ins	INS	-	-	T			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr19:12693708_12693709insT	ENST00000311437.6	-	4	427_428	c.305_306insA	c.(304-306)gacfs	p.D102fs	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	102	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(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						CAATATCCTGGTCTTTCCATTT	0.317																																																0																																										SO:0001589	frameshift_variant	57474			AB033024	CCDS12272.1	19p13.2	2013-01-08			ENSG00000188033	ENSG00000188033		"Zinc fingers, C2H2-type", "-"	23705	protein-coding gene	gene with protein product							Standard	NM_020714		Approved	KIAA1198	uc002mtz.2	Q9ULM2	OTTHUMG00000156398	ENST00000311437.6:c.306dupA	chr19.hg19:g.12693709_12693709dupT	ENSP00000311521:p.Asp102fs			Frame_Shift_Ins	INS	ENST00000311437.6	hg19	CCDS12272.1																																																																																				0.317	ZNF490-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344073.1	NM_020714		T	12693709	-	T	12693708	7	5	795	1	0	1	1	0	0	0	0	0	17946	1252	44	0	1291	0	ZNF490	19	12693708	Frame_Shift_Ins	INS	-	TCGA-SX-A7SS-01A-11D-A35Z-10	3625497	12693708	46435275	96	47439											
IL12RB1	3594	hgsc.bcm.edu	37	19	18180414	18180414	+	Silent	SNP	G	G	A	rs371543581		TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr19:18180414G>A	ENST00000600835.2	-	11	1429	c.1131C>T	c.(1129-1131)gaC>gaT	p.D377D	IL12RB1_ENST00000593993.2_Silent_p.D377D			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	377	Fibronectin type-III 4. {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						CAAGGCCCCCGTCCTGGCCCA	0.627																																																0								G		0,4042		0,0,2021	57	63	61		1131	-8.4	0	19		61	2,8348		0,2,4173	no	coding-synonymous	IL12RB1	NM_005535.1		0,2,6194	AA,AG,GG		0.024,0.0,0.0161		377/663	18180414	2,12390	2021	4175	6196	SO:0001819	synonymous_variant	3594			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.1131C>T	chr19.hg19:g.18180414G>A			A8K308|B2RPF1|B7ZKK3|Q8N6Q7	Silent	SNP	ENST00000600835.2	hg19	CCDS54232.1																																																																																				0.627	IL12RB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466525.3			A	18180414	G	A	18180414	2	1	795	1	0	0	0	0	0	0	0	1	7628	1136	40	1		1	IL12RB1	19	18180414	Silent	SNP	G	TCGA-SX-A7SS-01A-11D-A35Z-10	5486706	18180414	40948569	97	47440											
NCAN	1463	hgsc.bcm.edu	37	19	19338444	19338444	+	Missense_Mutation	SNP	C	C	A			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr19:19338444C>A	ENST00000252575.6	+	8	2114	c.2015C>A	c.(2014-2016)gCt>gAt	p.A672D	NCAN_ENST00000538881.1_Missense_Mutation_p.A123D	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	672					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)	CCCTCCCCTGCTGCAGAGACC	0.617																																																0													93	97	96					19																	19338444		2203	4300	6503	SO:0001583	missense	1463			AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans", "Endogenous ligands"	2465	protein-coding gene	gene with protein product	"neurocan proteoglycan"	600826	"chondroitin sulfate proteoglycan 3"	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.2015C>A	chr19.hg19:g.19338444C>A	ENSP00000252575:p.Ala672Asp		Q9UPK6	Missense_Mutation	SNP	ENST00000252575.6	hg19	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	C	11.48	1.651240	0.29336	.	.	ENSG00000130287	ENST00000539499;ENST00000252575;ENST00000538881	D;D	0.85339	-1.85;-1.97	4.31	-1.71	0.08133	.	0.647616	0.12787	N	0.439143	T	0.68329	0.2989	L	0.27053	0.805	0.09310	N	1	B;B	0.18863	0.031;0.011	B;B	0.18263	0.021;0.006	T	0.51276	-0.8726	10	0.13853	T	0.58	.	3.5545	0.07860	0.1714:0.4363:0.0:0.3924	.	686;672	Q4LE67;O14594	.;NCAN_HUMAN	D	686;672;123	ENSP00000252575:A672D;ENSP00000442202:A123D	ENSP00000252575:A672D	A	+	2	0	NCAN	19199444	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.175000	0.09825	-0.268000	0.09312	-0.339000	0.08088	GCT		0.617	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		A	19338444	C	A	19338444	3	1	795	1	0	0	0	0	1	0	0	0	10206	797	28	4	2041	4	NCAN	19	19338444	Missense_Mutation	SNP	C	TCGA-SX-A7SS-01A-11D-A35Z-10	1158030	19338444	39790539	98	47441											
ZNF737	100129842	hgsc.bcm.edu	37	19	20728068	20728068	+	Missense_Mutation	SNP	T	T	G	rs146757334	byFrequency	TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr19:20728068T>G	ENST00000427401.4	-	4	1035	c.941A>C	c.(940-942)aAa>aCa	p.K314T		NM_001159293.1	NP_001152765.1	O75373	ZN737_HUMAN	zinc finger protein 737	314					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						TTCTTCACATTTGTAGGGTTT	0.428																																																0													35	34	34					19																	20728068		692	1591	2283	SO:0001583	missense	100129842			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.941A>C	chr19.hg19:g.20728068T>G	ENSP00000395733:p.Lys314Thr		C9JHM3	Missense_Mutation	SNP	ENST00000427401.4	hg19	CCDS54238.1	.	.	.	.	.	.	.	.	.	.	-	9.442	1.088262	0.20390	.	.	ENSG00000237440	ENST00000427401	T	0.08458	3.09	0.801	0.801	0.18679	.	.	.	.	.	T	0.13670	0.0331	L	0.58925	1.835	0.09310	N	1	P	0.47409	0.895	P	0.52343	0.696	T	0.15549	-1.0433	9	0.66056	D	0.02	.	3.5302	0.07774	0.0:0.0:0.417:0.583	.	314	C9JHM3	.	T	314	ENSP00000395733:K314T	ENSP00000395733:K314T	K	-	2	0	ZNF737	20519908	0.000000	0.05858	0.183000	0.23137	0.184000	0.23303	-1.481000	0.02323	0.147000	0.19030	0.145000	0.16022	AAA		0.428	ZNF737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447844.2	NM_145289		G	20728068	T	G	20728068	3	3	795	1	0	0	0	0	1	0	0	0	18131	1841	64	5	673	5	ZNF737	19	20728068	Missense_Mutation	SNP	T	TCGA-SX-A7SS-01A-11D-A35Z-10	1389624	20728068	38400915	99	47442											
RYR1	6261	hgsc.bcm.edu	37	19	38949843	38949843	+	Missense_Mutation	SNP	T	T	G			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr19:38949843T>G	ENST00000359596.3	+	19	2225	c.2225T>G	c.(2224-2226)gTg>gGg	p.V742G	RYR1_ENST00000360985.3_Missense_Mutation_p.V742G|RYR1_ENST00000355481.4_Missense_Mutation_p.V742G			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	742	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				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)	CCTGAAGACGTGATCAGCTGC	0.632																																																0													109	88	95					19																	38949843		2203	4300	6503	SO:0001583	missense	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.2225T>G	chr19.hg19:g.38949843T>G	ENSP00000352608:p.Val742Gly		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	hg19	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	t	14.51	2.557863	0.45590	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.73152	-0.72;-0.72;-0.72	4.36	4.36	0.52297	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.64402	U	0.000015	D	0.86834	0.6028	M	0.92691	3.335	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.89980	0.4100	10	0.87932	D	0	.	13.3946	0.60843	0.0:0.0:0.0:1.0	.	742;742	P21817-2;P21817	.;RYR1_HUMAN	G	742	ENSP00000352608:V742G;ENSP00000347667:V742G;ENSP00000354254:V742G	ENSP00000347667:V742G	V	+	2	0	RYR1	43641683	1.000000	0.71417	0.999000	0.59377	0.567000	0.35839	7.868000	0.87116	1.827000	0.53221	0.375000	0.23000	GTG		0.632	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			G	38949843	T	G	38949843	3	3	795	1	0	0	0	0	1	0	0	0	13774	1696	59	5	2299	5	RYR1	19	38949843	Missense_Mutation	SNP	T	TCGA-SX-A7SS-01A-11D-A35Z-10	18221775	38949843	20179140	100	47443											
SUPT5H	6829	hgsc.bcm.edu	37	19	39964953	39964953	+	Missense_Mutation	SNP	T	T	C			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr19:39964953T>C	ENST00000599117.1	+	28	3098	c.2731T>C	c.(2731-2733)Tac>Cac	p.Y911H	SUPT5H_ENST00000359191.6_Missense_Mutation_p.Y907H|SUPT5H_ENST00000402194.2_Missense_Mutation_p.Y907H|SUPT5H_ENST00000432763.2_Missense_Mutation_p.Y911H|SUPT5H_ENST00000598725.1_Missense_Mutation_p.Y911H			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	911	10 X 8 AA approximate tandem repeats of P-[TS]-P-S-P-[QA]-[SG]-Y, motif CTR2.|Pro-rich.				7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CCCCCAGAGCTACCACCAGGT	0.617											OREG0025462	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													76	73	74					19																	39964953		2203	4300	6503	SO:0001583	missense	6829			U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"suppressor of Ty (S.cerevisiae) 5 homolog"			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.2731T>C	chr19.hg19:g.39964953T>C	ENSP00000470252:p.Tyr911His	889	O43279|Q59G52|Q99639	Missense_Mutation	SNP	ENST00000599117.1	hg19	CCDS12536.1	.	.	.	.	.	.	.	.	.	.	T	17.21	3.330351	0.60743	.	.	ENSG00000196235	ENST00000432763;ENST00000402194;ENST00000378524;ENST00000359191	.	.	.	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.64746	0.2626	L	0.54323	1.7	0.80722	D	1	P;D;B	0.56035	0.776;0.974;0.258	B;P;B	0.55391	0.258;0.775;0.054	T	0.64588	-0.6372	8	.	.	.	-16.7403	13.5134	0.61526	0.0:0.0:0.0:1.0	.	703;907;911	B4DJK4;O00267-2;O00267	.;.;SPT5H_HUMAN	H	911;907;889;911	.	.	Y	+	1	0	SUPT5H	44656793	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	5.927000	0.70080	2.034000	0.60081	0.379000	0.24179	TAC		0.617	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464918.1	NM_003169		C	39964953	T	C	39964953	3	2	795	1	0	0	0	0	1	0	0	0	15404	1522	53	3	2833	3	SUPT5H	19	39964953	Missense_Mutation	SNP	T	TCGA-SX-A7SS-01A-11D-A35Z-10	1015110	39964953	19164030	101	47444											
ZNF324B	388569	hgsc.bcm.edu	37	19	58966867	58966867	+	Missense_Mutation	SNP	G	G	T			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr19:58966867G>T	ENST00000336614.4	+	4	663	c.556G>T	c.(556-558)Ggg>Tgg	p.G186W	ZNF324B_ENST00000391696.1_Missense_Mutation_p.G176W|ZNF324B_ENST00000545523.1_Missense_Mutation_p.G186W	NM_207395.2	NP_997278.2	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	186					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)		CCGGGTGCCTGGGAGGCAGCC	0.667																																																0													34	41	39					19																	58966867		2203	4300	6503	SO:0001583	missense	388569			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.556G>T	chr19.hg19:g.58966867G>T	ENSP00000337473:p.Gly186Trp		B2RTZ6|Q6ZMX8|Q6ZS42	Missense_Mutation	SNP	ENST00000336614.4	hg19	CCDS33138.1	.	.	.	.	.	.	.	.	.	.	G	10.82	1.459539	0.26248	.	.	ENSG00000249471	ENST00000336614;ENST00000545523;ENST00000391696	T;T;T	0.08458	3.3;3.3;3.09	2.48	-2.19	0.07015	.	0.628796	0.13278	N	0.399985	T	0.12433	0.0302	L	0.32530	0.975	0.09310	N	1	D;D	0.69078	0.997;0.989	P;P	0.62813	0.907;0.775	T	0.13629	-1.0502	10	0.52906	T	0.07	.	7.2895	0.26358	0.4723:0.0:0.5277:0.0	.	186;176	Q6AW86;C9JTQ8	Z324B_HUMAN;.	W	186;186;176	ENSP00000337473:G186W;ENSP00000438930:G186W;ENSP00000375578:G176W	ENSP00000337473:G186W	G	+	1	0	ZNF324B	63658679	0.013000	0.17824	0.000000	0.03702	0.001000	0.01503	0.815000	0.27253	-0.429000	0.07329	-0.658000	0.03865	GGG		0.667	ZNF324B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467038.1	NM_207395		T	58966867	G	T	58966867	3	4	795	1	0	0	0	0	1	0	0	0	17850	1348	47	4	566	4	ZNF324B	19	58966867	Missense_Mutation	SNP	G	TCGA-SX-A7SS-01A-11D-A35Z-10	19001914	58966867	162116	102	47445											
ZNFX1	57169	hgsc.bcm.edu	37	20	47865692	47865692	+	Missense_Mutation	SNP	A	A	T			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr20:47865692A>T	ENST00000396105.1	-	14	4115	c.3869T>A	c.(3868-3870)cTg>cAg	p.L1290Q	ZNFX1_ENST00000371752.1_Missense_Mutation_p.L1290Q|ZNFX1_ENST00000371754.4_Intron	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1290							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)			CTCGCAGGGCAGGCTGCAGCC	0.582																																																0													81	82	82					20																	47865692		2203	4300	6503	SO:0001583	missense	57169			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.3869T>A	chr20.hg19:g.47865692A>T	ENSP00000379412:p.Leu1290Gln		Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	hg19	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	A	6.376	0.437429	0.12104	.	.	ENSG00000124201	ENST00000371752;ENST00000396105	D;D	0.86562	-2.14;-2.14	6.07	4.96	0.65561	.	0.307250	0.31370	N	0.007768	T	0.76828	0.4042	L	0.31926	0.97	0.26692	N	0.971326	B	0.12013	0.005	B	0.09377	0.004	T	0.59653	-0.7414	10	0.13853	T	0.58	-5.7428	6.7253	0.23353	0.6309:0.134:0.0:0.2351	.	1290	Q9P2E3	ZNFX1_HUMAN	Q	1290	ENSP00000360817:L1290Q;ENSP00000379412:L1290Q	ENSP00000360817:L1290Q	L	-	2	0	ZNFX1	47299099	0.988000	0.35896	1.000000	0.80357	0.983000	0.72400	1.024000	0.30077	1.080000	0.41073	0.533000	0.62120	CTG		0.582	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		T	47865692	A	T	47865692	3	4	795	1	0	0	0	0	1	0	0	0	18210	188	7	5	1891	5	ZNFX1	20	47865692	Missense_Mutation	SNP	A	TCGA-SX-A7SS-01A-11D-A35Z-10		47865692	15159828	103	47446											
SLC9A8	23315	hgsc.bcm.edu	37	20	48429466	48429466	+	Missense_Mutation	SNP	G	G	C			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr20:48429466G>C	ENST00000361573.2	+	1	49	c.7G>C	c.(7-9)Gag>Cag	p.E3Q	SLC9A8_ENST00000541138.1_5'UTR|SLC9A8_ENST00000417961.1_Missense_Mutation_p.E3Q|SLC9A8_ENST00000539601.1_5'UTR			Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	3					ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	potassium:proton antiporter activity (GO:0015386)|sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			CAGGATGGGGGAGAAGATGGC	0.731																																																0													22	27	25					20																	48429466		1595	2909	4504	SO:0001583	missense	23315			AB023156	CCDS13421.1, CCDS58774.1	20q13.13	2013-05-22	2012-03-22		ENSG00000197818	ENSG00000197818		"Solute carriers"	20728	protein-coding gene	gene with protein product		612730	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 8", "solute carrier family 9 (sodium/hydrogen exchanger), member 8"			12409279	Standard	NM_001260491		Approved	KIAA0939, NHE8	uc002xuv.2	Q9Y2E8	OTTHUMG00000032710	ENST00000361573.2:c.7G>C	chr20.hg19:g.48429466G>C	ENSP00000354966:p.Glu3Gln		B4DTQ8|Q2M1U9|Q68CZ8|Q9BX15|Q9Y507	Missense_Mutation	SNP	ENST00000361573.2	hg19	CCDS13421.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.916117	0.52546	.	.	ENSG00000197818	ENST00000417961;ENST00000361573	T;T	0.64618	-0.11;-0.11	5.78	3.74	0.42951	.	0.638943	0.14719	N	0.302454	T	0.38295	0.1035	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.15037	-1.0451	10	0.18710	T	0.47	.	9.5823	0.39495	0.0:0.1538:0.6865:0.1597	.	3;3	Q9Y2E8-2;Q9Y2E8	.;SL9A8_HUMAN	Q	3	ENSP00000416418:E3Q;ENSP00000354966:E3Q	ENSP00000354966:E3Q	E	+	1	0	SLC9A8	47862873	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.561000	0.36342	1.437000	0.47472	0.549000	0.68633	GAG		0.731	SLC9A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106483.3	XM_030524		C	48429466	G	C	48429466	3	2	795	1	0	0	0	0	1	0	0	0	14726	1175	41	4	9	4	SLC9A8	20	48429466	Missense_Mutation	SNP	G	TCGA-SX-A7SS-01A-11D-A35Z-10	563774	48429466	14596054	104	47447											
CTCFL	140690	hgsc.bcm.edu	37	20	56099187	56099187	+	Silent	SNP	T	T	C			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr20:56099187T>C	ENST00000608263.1	-	1	736	c.75A>G	c.(73-75)aaA>aaG	p.K25K	CTCFL_ENST00000432255.2_Silent_p.K25K|CTCFL_ENST00000608440.1_Silent_p.K25K|CTCFL_ENST00000481655.2_Silent_p.K25K|CTCFL_ENST00000422869.2_Silent_p.K25K|CTCFL_ENST00000371196.2_Silent_p.K25K|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000429804.3_Silent_p.K25K|CTCFL_ENST00000608858.1_Intron|CTCFL_ENST00000608903.1_Intron|CTCFL_ENST00000243914.3_Silent_p.K25K|CTCFL_ENST00000608158.1_Silent_p.K25K|CTCFL_ENST00000423479.3_Silent_p.K25K|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000608425.1_Silent_p.K25K|CTCFL_ENST00000433949.3_Intron|CTCFL_ENST00000609232.1_Silent_p.K25K	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	25					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)			CCTTCAGGCCTTTTTCCGGCA	0.502																																																0													231	258	249					20																	56099187		2203	4300	6503	SO:0001819	synonymous_variant	140690				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.75A>G	chr20.hg19:g.56099187T>C			A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Silent	SNP	ENST00000608263.1	hg19	CCDS13459.1																																																																																				0.502	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618		C	56099187	T	C	56099187	2	2	795	1	0	0	0	0	0	0	0	1	4003	1606	56	3		3	CTCFL	20	56099187	Silent	SNP	T	TCGA-SX-A7SS-01A-11D-A35Z-10	7669721	56099187	6926333	105	47448											
DONSON	29980	hgsc.bcm.edu	37	21	34951869	34951869	+	Splice_Site	SNP	C	C	A			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr21:34951869C>A	ENST00000303071.5	-	9	1417		c.e9-1		DONSON_ENST00000453626.1_Intron|DONSON_ENST00000303113.6_Splice_Site|DONSON_ENST00000432378.1_Intron	NM_017613.3	NP_060083.1	Q9NYP3	DONS_HUMAN	downstream neighbor of SON						multicellular organismal development (GO:0007275)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						CACTCCGTGCCTTCATGAAAA	0.378																																																0													99	92	94					21																	34951869		2203	4300	6503	SO:0001630	splice_region_variant	29980			AF000002	CCDS13632.1	21q22.1	2008-07-31			ENSG00000159147	ENSG00000159147			2993	protein-coding gene	gene with protein product		611428		C21orf60		10773462, 10950926	Standard	NM_017613		Approved	B17, C2TA, DKFZP434M035	uc002ysk.4	Q9NYP3	OTTHUMG00000065904	ENST00000303071.5:c.1351-1G>T	chr21.hg19:g.34951869C>A			Q8NC53|Q9NSR9|Q9NVZ5|Q9NYP1|Q9NYP2	Splice_Site	SNP	ENST00000303071.5	hg19	CCDS13632.1	.	.	.	.	.	.	.	.	.	.	C	14.09	2.432562	0.43224	.	.	ENSG00000159147	ENST00000303113;ENST00000303071;ENST00000437395;ENST00000440810	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6299	0.95698	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DONSON	33873739	1.000000	0.71417	1.000000	0.80357	0.348000	0.29142	5.242000	0.65389	2.740000	0.93945	0.447000	0.29281	.		0.378	DONSON-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141184.1	NM_017613	Intron	A	34951869	C	A	34951869	5	1	795	1	0	0	0	0	0	0	1	0	4708	695	24	4	358	4	DONSON	21	34951869	Splice_Site	SNP	C	TCGA-SX-A7SS-01A-11D-A35Z-10		34951869	13178026	106	47449											
HIC2	23119	hgsc.bcm.edu	37	22	21799452	21799458	+	Frame_Shift_Del	DEL	TCCACAG	TCCACAG	-			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	TCCACAG	TCCACAG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr22:21799452_21799458delTCCACAG	ENST00000443632.2	+	2	640_646	c.268_274delTCCACAG	c.(268-276)tccacagtgfs	p.STV90fs	HIC2_ENST00000407598.2_Frame_Shift_Del_p.STV90fs|HIC2_ENST00000407464.2_Frame_Shift_Del_p.STV90fs			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	90	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				CATGGTCAGCTCCACAGTGTTCCAGCA	0.585																																					NSCLC(23;437 858 2282 27947 40366)											0																																										SO:0001589	frameshift_variant	23119			AB028943	CCDS13789.1	22q11.21	2013-01-09			ENSG00000169635	ENSG00000169635		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	18595	protein-coding gene	gene with protein product		607712				11554746	Standard	NM_015094		Approved	KIAA1020, HRG22, ZBTB30, ZNF907	uc002zur.4	Q96JB3	OTTHUMG00000150781	ENST00000443632.2:c.268_274delTCCACAG	chr22.hg19:g.21799452_21799458delTCCACAG	ENSP00000387757:p.Ser90fs		Q504T6|Q96KR3|Q9NSM9|Q9UPX9	Frame_Shift_Del	DEL	ENST00000443632.2	hg19	CCDS13789.1																																																																																				0.585	HIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320061.2			-	21799458	TCCACAG	-	21799452	7	5	795	1	0	1	0	1	0	0	0	0	7104	1551	54	0	274	0	HIC2	22	21799452	Frame_Shift_Del	DEL	TCCACAG	TCGA-SX-A7SS-01A-11D-A35Z-10		21799452	29505114	107	47450											
NIPSNAP1	8508	hgsc.bcm.edu	37	22	29957632	29957632	+	Missense_Mutation	SNP	A	A	T			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr22:29957632A>T	ENST00000216121.7	-	6	696	c.442T>A	c.(442-444)Tac>Aac	p.Y148N		NM_001202502.1|NM_003634.3	NP_001189431.1|NP_003625.2	Q9BPW8	NIPS1_HUMAN	nipsnap homolog 1 (C. elegans)	148					sensory perception of pain (GO:0019233)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|synaptic membrane (GO:0097060)	neurotransmitter binding (GO:0042165)	p.?(1)		large_intestine(2)|lung(2)|skin(1)	5						AACTCCAGGTACTCCTGTGGG	0.587																																																1	Unknown(1)	lung(1)											99	92	94					22																	29957632		2203	4300	6503	SO:0001583	missense	8508			AJ001258	CCDS13860.1	22q12	2013-09-12	2001-11-28		ENSG00000184117	ENSG00000184117			7827	protein-coding gene	gene with protein product	"4-nitrophenylphosphatase domain and non-neuronal SNAP25-like 1"	603249	"NIPSNAP, C. elegans, homolog 1"			9661659	Standard	NM_003634		Approved		uc003afx.4	Q9BPW8	OTTHUMG00000151294	ENST00000216121.7:c.442T>A	chr22.hg19:g.29957632A>T	ENSP00000216121:p.Tyr148Asn		B2RAY3|O43800	Missense_Mutation	SNP	ENST00000216121.7	hg19	CCDS13860.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	26.8|26.8	4.773116|4.773116	0.90108|0.90108	.|.	.|.	ENSG00000184117|ENSG00000184117	ENST00000415100|ENST00000216121;ENST00000437094	.|T;T	.|0.70631	.|0.91;-0.5	4.61|4.61	4.61|4.61	0.57282|0.57282	.|Dimeric alpha-beta barrel (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.76278|0.76278	0.3965|0.3965	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	.|P;P	.|0.52692	.|0.955;0.955	.|P;P	.|0.53450	.|0.726;0.635	T|T	0.79928|0.79928	-0.1596|-0.1596	5|10	.|0.87932	.|D	.|0	.|.	14.4366|14.4366	0.67284|0.67284	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|128;148	.|B4DQI7;Q9BPW8	.|.;NIPS1_HUMAN	E|N	164|148;13	.|ENSP00000216121:Y148N;ENSP00000403448:Y13N	.|ENSP00000216121:Y148N	V|Y	-|-	2|1	0|0	NIPSNAP1|NIPSNAP1	28287632|28287632	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.920000|0.920000	0.55202|0.55202	8.822000|8.822000	0.92013|0.92013	2.070000|2.070000	0.61991|0.61991	0.379000|0.379000	0.24179|0.24179	GTA|TAC		0.587	NIPSNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322117.1			T	29957632	A	T	29957632	3	4	795	1	0	0	0	0	1	0	0	0	10431	391	14	5	432	5	NIPSNAP1	22	29957632	Missense_Mutation	SNP	A	TCGA-SX-A7SS-01A-11D-A35Z-10	8158180	29957632	21346934	108	47451											
SMTN	6525	hgsc.bcm.edu	37	22	31486118	31486118	+	Missense_Mutation	SNP	C	C	A			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr22:31486118C>A	ENST00000347557.2	+	8	1035	c.817C>A	c.(817-819)Cct>Act	p.P273T	SMTN_ENST00000333137.7_Missense_Mutation_p.P273T|SMTN_ENST00000358743.1_Missense_Mutation_p.P273T	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin	273	Pro-rich.				muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						CAAAGAGACCCCTGCTGCCCA	0.637																																																0													55	55	55					22																	31486118		2203	4300	6503	SO:0001583	missense	6525			AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963			11126	protein-coding gene	gene with protein product		602127				9244445, 8707825	Standard	NM_006932		Approved		uc011ale.2	P53814	OTTHUMG00000151203	ENST00000347557.2:c.817C>A	chr22.hg19:g.31486118C>A	ENSP00000328635:p.Pro273Thr		O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	Missense_Mutation	SNP	ENST00000347557.2	hg19	CCDS13886.1	.	.	.	.	.	.	.	.	.	.	C	4.350	0.064425	0.08388	.	.	ENSG00000183963	ENST00000358743;ENST00000347557;ENST00000333137;ENST00000329852;ENST00000404496	T;T;T	0.67698	0.14;-0.28;-0.28	4.14	0.863	0.19062	.	0.210963	0.24276	N	0.039954	T	0.42921	0.1224	N	0.17082	0.46	0.58432	D	0.999999	B;B;B;B;B;B	0.14438	0.01;0.003;0.006;0.007;0.003;0.01	B;B;B;B;B;B	0.15484	0.013;0.004;0.005;0.008;0.009;0.007	T	0.08576	-1.0715	10	0.26408	T	0.33	-1.1918	6.0239	0.19644	0.0:0.6593:0.0:0.3407	.	329;327;265;273;273;273	E7ETT8;B4E229;B5MC56;E7EWD0;P53814;P53814-5	.;.;.;.;SMTN_HUMAN;.	T	273;273;273;273;265	ENSP00000351593:P273T;ENSP00000328635:P273T;ENSP00000329532:P273T	ENSP00000329393:P273T	P	+	1	0	SMTN	29816118	0.130000	0.22417	0.941000	0.38009	0.108000	0.19459	0.092000	0.15066	0.289000	0.22422	-0.251000	0.11542	CCT		0.637	SMTN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321766.1	NM_134270		A	31486118	C	A	31486118	3	1	795	1	0	0	0	0	1	0	0	0	14820	623	22	4	843	4	SMTN	22	31486118	Missense_Mutation	SNP	C	TCGA-SX-A7SS-01A-11D-A35Z-10	1528486	31486118	19818448	109	47452											
PKDREJ	10343	hgsc.bcm.edu	37	22	46656408	46656408	+	Missense_Mutation	SNP	C	C	A			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr22:46656408C>A	ENST00000253255.5	-	1	2811	c.2812G>T	c.(2812-2814)Gat>Tat	p.D938Y		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	938					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)		CTACCGTTATCTGCAACTCCT	0.428																																																0													173	181	179					22																	46656408		2203	4300	6503	SO:0001583	missense	10343			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.2812G>T	chr22.hg19:g.46656408C>A	ENSP00000253255:p.Asp938Tyr		B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	hg19	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.800967	0.31869	.	.	ENSG00000130943	ENST00000253255	T	0.39056	1.1	5.33	-0.92	0.10475	.	0.787491	0.11134	N	0.595970	T	0.28333	0.0700	L	0.43152	1.355	0.09310	N	1	P	0.42337	0.776	B	0.32289	0.143	T	0.11372	-1.0590	10	0.66056	D	0.02	-2.6123	8.9992	0.36072	0.0:0.3715:0.4915:0.137	.	938	Q9NTG1	PKDRE_HUMAN	Y	938	ENSP00000253255:D938Y	ENSP00000253255:D938Y	D	-	1	0	PKDREJ	45035072	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	0.056000	0.14256	-0.198000	0.10333	-0.176000	0.13171	GAT		0.428	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		A	46656408	C	A	46656408	3	1	795	1	0	0	0	0	1	0	0	0	11972	913	32	4	3953	4	PKDREJ	22	46656408	Missense_Mutation	SNP	C	TCGA-SX-A7SS-01A-11D-A35Z-10	15170290	46656408	4648158	110	47453											
TBC1D22A	25771	hgsc.bcm.edu	37	22	47290719	47290719	+	Missense_Mutation	SNP	A	A	C			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chr22:47290719A>C	ENST00000337137.4	+	7	1043	c.877A>C	c.(877-879)Atc>Ctc	p.I293L	TBC1D22A_ENST00000407381.3_Missense_Mutation_p.I234L|TBC1D22A_ENST00000380995.1_Missense_Mutation_p.I246L|TBC1D22A_ENST00000406733.1_Missense_Mutation_p.I246L|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.I215L	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	293	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)		TGAAGCGTTGATCCTGCAGCC	0.542																																																0													206	154	172					22																	47290719		2203	4300	6503	SO:0001583	missense	25771			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.877A>C	chr22.hg19:g.47290719A>C	ENSP00000336724:p.Ile293Leu		B0QYI2|B0QYI3|B9A6M3|Q5TE47|Q6ZUH2|Q92680|Q9BVD6|Q9UGG0|Q9UGT2|Q9UGU6|Q9UH25|Q9Y4W5	Missense_Mutation	SNP	ENST00000337137.4	hg19	CCDS14078.1	.	.	.	.	.	.	.	.	.	.	A	0.013	-1.608035	0.00842	.	.	ENSG00000054611	ENST00000337137;ENST00000380995;ENST00000407381;ENST00000355704;ENST00000406733	T;T;T;T;T	0.03801	3.8;3.8;3.8;3.8;3.8	5.06	1.7	0.24286	Rab-GAP/TBC domain (4);	0.340608	0.32719	N	0.005728	T	0.01905	0.0060	N	0.05306	-0.075	0.09310	N	0.999998	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.19666	0.001;0.026;0.006;0.001	T	0.48822	-0.9001	10	0.02654	T	1	.	6.5479	0.22416	0.6247:0.2948:0.0805:0.0	.	293;215;234;293	B9A6M3;Q8WUA7-2;B0QYI1;Q8WUA7	.;.;.;TB22A_HUMAN	L	293;246;234;215;246	ENSP00000336724:I293L;ENSP00000370383:I246L;ENSP00000384036:I234L;ENSP00000347932:I215L;ENSP00000385634:I246L	ENSP00000336724:I293L	I	+	1	0	TBC1D22A	45669383	0.985000	0.35326	0.000000	0.03702	0.074000	0.17049	2.196000	0.42686	-0.027000	0.13873	-0.291000	0.09656	ATC		0.542	TBC1D22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317600.3	NM_014346		C	47290719	A	C	47290719	3	2	795	1	0	0	0	0	1	0	0	0	15616	333	12	5	903	5	TBC1D22A	22	47290719	Missense_Mutation	SNP	A	TCGA-SX-A7SS-01A-11D-A35Z-10	634311	47290719	4013847	111	47454											
KDM6A	7403	hgsc.bcm.edu	37	X	44937747	44937747	+	Missense_Mutation	SNP	T	T	G			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chrX:44937747T>G	ENST00000377967.4	+	19	2976	c.2935T>G	c.(2935-2937)Tta>Gta	p.L979V	KDM6A_ENST00000543216.1_Missense_Mutation_p.L900V|KDM6A_ENST00000382899.4_Missense_Mutation_p.L986V|KDM6A_ENST00000536777.1_Missense_Mutation_p.L934V	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	979	Interaction with SUPT6H. {ECO:0000250}.				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						AGCTCTTAAGTTAGGTAAGCC	0.343			"D, N, F, S"		"renal, oesophageal SCC, MM"																																Colon(129;1273 1667 15230 27352 52914)		Rec	yes		X	Xp11.2	7403	"lysine (K)-specific demethylase 6A, UTX"		"E, L"	6	Whole gene deletion(6)	oesophagus(2)|breast(2)|pancreas(2)											85	74	78					X																	44937747		2203	4300	6503	SO:0001583	missense	7403			AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"Chromatin-modifying enzymes / K-demethylases", "Tetratricopeptide (TTC) repeat domain containing"	12637	protein-coding gene	gene with protein product		300128	"ubiquitously transcribed tetratricopeptide repeat, X chromosome"	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.2935T>G	chrX.hg19:g.44937747T>G	ENSP00000367203:p.Leu979Val		Q52LL9|Q5JVQ7	Missense_Mutation	SNP	ENST00000377967.4	hg19	CCDS14265.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.6|20.6	4.017728|4.017728	0.75161|0.75161	.|.	.|.	ENSG00000147050|ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216|ENST00000414389;ENST00000433797	T;T;T;T|.	0.71103|.	-0.54;-0.54;-0.54;-0.54|.	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78521|0.78521	0.4296|0.4296	M|M	0.86268|0.86268	2.805|2.805	0.80722|0.80722	D|D	1|1	D;D;P;P;P;P|.	0.63880|.	0.993;0.974;0.797;0.864;0.921;0.944|.	D;D;P;B;D;P|.	0.70487|.	0.952;0.969;0.779;0.234;0.957;0.529|.	T|T	0.81357|0.81357	-0.0969|-0.0969	10|5	0.87932|.	D|.	0|.	-7.2923|-7.2923	14.4858|14.4858	0.67616|0.67616	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	618;986;934;1031;945;979|.	B4E0L8;F8W8R6;F5H6S1;B7ZKN5;B4E253;O15550|.	.;.;.;.;.;KDM6A_HUMAN|.	V|G	676;979;934;986;900|576;621	ENSP00000367203:L979V;ENSP00000437405:L934V;ENSP00000372355:L986V;ENSP00000443078:L900V|.	ENSP00000334340:L676V|.	L|V	+|+	1|2	2|0	KDM6A|KDM6A	44822691|44822691	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	5.449000|5.449000	0.66619|0.66619	1.800000|1.800000	0.52685|0.52685	0.437000|0.437000	0.28790|0.28790	TTA|GTT		0.343	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140		G	44937747	T	G	44937747	3	3	795	1	0	0	0	0	1	0	0	0	8139	1722	60	5	3009	5	KDM6A	23	44937747	Missense_Mutation	SNP	T	TCGA-SX-A7SS-01A-11D-A35Z-10		44937747	110332813	112	47455											
HDAC6	10013	hgsc.bcm.edu	37	X	48661330	48661330	+	Missense_Mutation	SNP	A	A	G			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chrX:48661330A>G	ENST00000334136.5	+	3	324	c.146A>G	c.(145-147)gAg>gGg	p.E49G	HDAC6_ENST00000469223.1_3'UTR|HDAC6_ENST00000376619.2_Missense_Mutation_p.E49G|HDAC6_ENST00000413163.2_5'UTR|HDAC6_ENST00000444343.2_Missense_Mutation_p.E63G			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	49					aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	AATCTAGCGGAGGTAAAGAAG	0.507																																					Pancreas(112;205 1675 2305 8976 15959)											0													65	52	56					X																	48661330		2200	4300	6500	SO:0001583	missense	10013			AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 90"	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.146A>G	chrX.hg19:g.48661330A>G	ENSP00000334061:p.Glu49Gly		O94975|Q6NT75|Q7L3E5|Q96CY0	Missense_Mutation	SNP	ENST00000334136.5	hg19	CCDS14306.1	.	.	.	.	.	.	.	.	.	.	A	18.70	3.679096	0.68042	.	.	ENSG00000094631	ENST00000423941;ENST00000438518;ENST00000376643;ENST00000444343;ENST00000376610;ENST00000334136;ENST00000376619;ENST00000436813;ENST00000441703;ENST00000426196;ENST00000443563;ENST00000440653	T;T;T	0.64085	-0.08;-0.07;-0.07	4.42	4.42	0.53409	.	0.513308	0.18131	N	0.150754	T	0.63674	0.2531	L	0.34521	1.04	0.80722	D	1	D;P;P	0.65815	0.995;0.919;0.827	P;P;P	0.57425	0.82;0.45;0.526	T	0.64449	-0.6405	10	0.54805	T	0.06	-19.7689	10.7808	0.46377	1.0:0.0:0.0:0.0	.	39;49;49	B4DZN1;Q9UBN7;Q9BRX7	.;HDAC6_HUMAN;.	G	49;49;49;63;49;49;49;49;49;49;49;49	ENSP00000398566:E63G;ENSP00000334061:E49G;ENSP00000365804:E49G	ENSP00000334061:E49G	E	+	2	0	HDAC6	48546274	1.000000	0.71417	0.468000	0.27192	0.916000	0.54674	4.544000	0.60691	1.744000	0.51775	0.486000	0.48141	GAG		0.507	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083394.2	NM_006044		G	48661330	A	G	48661330	3	3	795	1	0	0	0	0	1	0	0	0	7013	304	11	3	152	3	HDAC6	23	48661330	Missense_Mutation	SNP	A	TCGA-SX-A7SS-01A-11D-A35Z-10	3723583	48661330	106609230	113	47456											
FAM123B	139285	hgsc.bcm.edu	37	X	63412149	63412149	+	Missense_Mutation	SNP	T	T	C			TCGA-SX-A7SS-01A-11D-A35Z-10	TCGA-SX-A7SS-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8a5b9c2f-52f8-4f4c-864e-288f4a31f85f	b78095c0-dd7d-406b-9d5c-0e0a56f03118	g.chrX:63412149T>C	ENST00000330258.3	-	2	1290	c.1018A>G	c.(1018-1020)Atg>Gtg	p.M340V	AMER1_ENST00000403336.1_Missense_Mutation_p.M340V|AMER1_ENST00000374869.3_Missense_Mutation_p.M340V	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	340					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)									CTGTCTGTCATACTGTCCATG	0.537																																																67	Whole gene deletion(67)	kidney(65)|ovary(1)|large_intestine(1)											171	148	155					X																	63412149		2203	4300	6503	SO:0001583	missense	139285			AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"-"	26837	protein-coding gene	gene with protein product	"Wilms Tumor on the X", "adenomatous polyposis coli membrane recruitment 1"	300647	"family with sequence similarity 123B"	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.1018A>G	chrX.hg19:g.63412149T>C	ENSP00000329117:p.Met340Val		A2IB86|Q8N885	Missense_Mutation	SNP	ENST00000330258.3	hg19	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	T	4.090	0.014768	0.07959	.	.	ENSG00000184675	ENST00000374869;ENST00000330258;ENST00000403336	T;T;T	0.15139	2.45;2.45;2.45	5.18	5.18	0.71444	.	0.097775	0.64402	D	0.000001	T	0.06050	0.0157	N	0.04508	-0.205	0.33997	D	0.64987	B	0.31383	0.321	B	0.29176	0.099	T	0.21042	-1.0257	10	0.05833	T	0.94	-11.8023	7.9073	0.29769	0.0:0.0931:0.0:0.9069	.	340	Q5JTC6	F123B_HUMAN	V	340	ENSP00000364003:M340V;ENSP00000329117:M340V;ENSP00000384722:M340V	ENSP00000329117:M340V	M	-	1	0	FAM123B	63328874	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.105000	0.41825	2.047000	0.60756	0.430000	0.28490	ATG		0.537	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		C	63412149	T	C	63412149	3	2	795	1	0	0	0	0	1	0	0	0	5425	1406	49	3	2393	3	FAM123B	23	63412149	Missense_Mutation	SNP	T	TCGA-SX-A7SS-01A-11D-A35Z-10	14750819	63412149	91858411	114	47457											
DMAP1	55929	hgsc.bcm.edu	37	1	44680529	44680529	+	Missense_Mutation	SNP	G	G	A			TCGA-SX-A7SU-01A-11D-A35Z-10	TCGA-SX-A7SU-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	06de0d9e-db97-4250-a774-fa0f4eabbe74	7d1da0d0-0c30-4440-b607-036215cc6509	g.chr1:44680529G>A	ENST00000372289.2	+	3	615	c.352G>A	c.(352-354)Gcg>Acg	p.A118T	DMAP1_ENST00000361745.6_Missense_Mutation_p.A118T|DMAP1_ENST00000488433.1_3'UTR|DMAP1_ENST00000315913.5_Missense_Mutation_p.A118T	NM_019100.4	NP_061973.1	Q9NPF5	DMAP1_HUMAN	DNA methyltransferase 1 associated protein 1	118					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA methylation (GO:0006306)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription factor import into nucleus (GO:0042993)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|RNA polymerase II repressing transcription factor binding (GO:0001103)|transcription corepressor activity (GO:0003714)			breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(166;0.155)					GCGACGTGCAGCGGAGGAGGG	0.572																																																0													79	70	73					1																	44680529		2203	4300	6503	SO:0001583	missense	55929			AB037846	CCDS509.1	1p34	2009-07-13			ENSG00000178028	ENSG00000178028			18291	protein-coding gene	gene with protein product		605077				10888872, 10718198	Standard	XM_005271039		Approved	DNMAP1, FLJ11543, KIAA1425, DNMTAP1, EAF2, MEAF2, SWC4	uc001clq.1	Q9NPF5	OTTHUMG00000007577	ENST00000372289.2:c.352G>A	chr1.hg19:g.44680529G>A	ENSP00000361363:p.Ala118Thr		A8K001|D3DPY8|Q0JSM4|Q5TG41|Q7Z3H7|Q9H0S8|Q9P2C2	Missense_Mutation	SNP	ENST00000372289.2	hg19	CCDS509.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.332860	0.60853	.	.	ENSG00000178028	ENST00000361745;ENST00000446292;ENST00000372283;ENST00000440641;ENST00000436069;ENST00000437511;ENST00000315913;ENST00000372289;ENST00000372290	T;T;T;T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83;1.83;1.83;1.83	5.27	5.27	0.74061	.	0.048507	0.85682	D	0.000000	T	0.28067	0.0692	N	0.20610	0.595	0.80722	D	1	B;B;B;B;D;B	0.62365	0.126;0.383;0.056;0.335;0.991;0.126	B;B;B;B;P;B	0.58820	0.031;0.343;0.029;0.19;0.846;0.031	T	0.02037	-1.1225	10	0.12103	T	0.63	-11.2103	14.1424	0.65327	0.0:0.0:0.85:0.15	.	118;118;118;118;144;118	B4DQG8;B4DEF2;B4DTH3;B4DTU6;B4DU03;Q9NPF5	.;.;.;.;.;DMAP1_HUMAN	T	118;118;144;118;144;144;118;118;89	ENSP00000354697:A118T;ENSP00000409200:A118T;ENSP00000401099:A118T;ENSP00000400269:A144T;ENSP00000402494:A144T;ENSP00000312697:A118T;ENSP00000361363:A118T;ENSP00000361364:A89T	ENSP00000312697:A118T	A	+	1	0	DMAP1	44453116	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	7.447000	0.80620	2.614000	0.88457	0.655000	0.94253	GCG		0.572	DMAP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020027.3	NM_019100		A	44680529	G	A	44680529	3	1	796	1	0	0	0	0	1	0	0	0	4578	971	34	2	362	2	DMAP1	1	44680529	Missense_Mutation	SNP	G	TCGA-SX-A7SU-01A-11D-A35Z-10		44680529	204570092	1	47458											
OTUD7B	56957	hgsc.bcm.edu	37	1	149916007	149916007	+	Missense_Mutation	SNP	T	T	C			TCGA-SX-A7SU-01A-11D-A35Z-10	TCGA-SX-A7SU-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	06de0d9e-db97-4250-a774-fa0f4eabbe74	7d1da0d0-0c30-4440-b607-036215cc6509	g.chr1:149916007T>C	ENST00000369135.4	-	12	2575	c.2281A>G	c.(2281-2283)Agg>Ggg	p.R761G		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	761					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)			AAGGCACCCCTGTGAAGTCCA	0.622																																																0													35	37	37					1																	149916007		1944	4142	6086	SO:0001583	missense	56957			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.2281A>G	chr1.hg19:g.149916007T>C	ENSP00000358131:p.Arg761Gly		B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Missense_Mutation	SNP	ENST00000369135.4	hg19	CCDS41389.1	.	.	.	.	.	.	.	.	.	.	T	3.697	-0.062382	0.07273	.	.	ENSG00000163113	ENST00000369135;ENST00000543330	T	0.29655	1.56	4.8	-0.468	0.12146	.	0.596176	0.17810	N	0.161235	T	0.03305	0.0096	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.42865	-0.9426	9	.	.	.	-8.4456	3.9978	0.09566	0.0:0.2797:0.3849:0.3354	.	761	Q6GQQ9	OTU7B_HUMAN	G	761	ENSP00000358131:R761G	.	R	-	1	2	OTUD7B	148182631	0.922000	0.31269	0.189000	0.23252	0.672000	0.39443	0.923000	0.28757	0.006000	0.14734	0.374000	0.22700	AGG		0.622	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034146.3	NM_020205		C	149916007	T	C	149916007	3	2	796	1	0	0	0	0	1	0	0	0	11321	1579	55	3	254	3	OTUD7B	1	149916007	Missense_Mutation	SNP	T	TCGA-SX-A7SU-01A-11D-A35Z-10	105235478	149916007	99334614	2	47459											
HNRPLL	92906	hgsc.bcm.edu	37	2	38812820	38812820	+	Missense_Mutation	SNP	A	A	T			TCGA-SX-A7SU-01A-11D-A35Z-10	TCGA-SX-A7SU-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	06de0d9e-db97-4250-a774-fa0f4eabbe74	7d1da0d0-0c30-4440-b607-036215cc6509	g.chr2:38812820A>T	ENST00000449105.3	-	3	851	c.512T>A	c.(511-513)cTc>cAc	p.L171H	HNRNPLL_ENST00000409636.1_Missense_Mutation_p.L166H|HNRNPLL_ENST00000410076.1_Missense_Mutation_p.L166H|HNRNPLL_ENST00000378915.3_Missense_Mutation_p.L171H|HNRNPLL_ENST00000608859.1_Missense_Mutation_p.L171H|HNRNPLL_ENST00000358367.4_Missense_Mutation_p.L171H|HNRNPLL_ENST00000409328.1_Missense_Mutation_p.L171H			Q8WVV9	HNRLL_HUMAN	heterogeneous nuclear ribonucleoprotein L-like	171	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|positive regulation of RNA splicing (GO:0033120)	membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)										CTGAATTGAGAGCAGAAGAAC	0.383																																																0													121	118	119					2																	38812820		2203	4300	6503	SO:0001583	missense	92906			BC008217	CCDS46261.1, CCDS1796.2	2p22	2014-02-10		2013-06-12	ENSG00000143889	ENSG00000143889		"RNA binding motif (RRM) containing"	25127	protein-coding gene	gene with protein product		611208		HNRPLL		18669861	Standard	NM_138394		Approved		uc021vgc.1	Q8WVV9	OTTHUMG00000102075	ENST00000449105.3:c.512T>A	chr2.hg19:g.38812820A>T	ENSP00000390625:p.Leu171His		Q53T80|Q5JB51|Q5JB52|Q659B9|Q8IVH5|Q8IVH6|Q96HR5	Missense_Mutation	SNP	ENST00000449105.3	hg19		.	.	.	.	.	.	.	.	.	.	A	21.0	4.086464	0.76642	.	.	ENSG00000143889	ENST00000449105;ENST00000409636;ENST00000378915;ENST00000409328;ENST00000358367;ENST00000410076;ENST00000425682	D	0.83335	-1.71	5.63	5.63	0.86233	.	0.000000	0.64402	D	0.000008	D	0.90635	0.7063	M	0.83118	2.625	0.50313	D	0.999869	D;D	0.69078	0.997;0.997	P;P	0.61722	0.893;0.893	D	0.92089	0.5679	10	0.87932	D	0	.	15.8534	0.78952	1.0:0.0:0.0:0.0	.	166;171	C9J9G0;D6W592	.;.	H	171;166;171;171;171;166;110	ENSP00000396669:L110H	ENSP00000351136:L171H	L	-	2	0	HNRPLL	38666324	0.987000	0.35691	0.997000	0.53966	0.735000	0.41995	9.210000	0.95106	2.154000	0.67381	0.533000	0.62120	CTC		0.383	HNRNPLL-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000219887.2	NM_138394		T	38812820	A	T	38812820	3	4	796	1	0	0	0	0	1	0	0	0	7279	304	11	5	1160	5	HNRPLL	2	38812820	Missense_Mutation	SNP	A	TCGA-SX-A7SU-01A-11D-A35Z-10		38812820	204386553	3	47460											
TTLL4	9654	hgsc.bcm.edu	37	2	219619110	219619110	+	Nonstop_Mutation	SNP	T	T	A			TCGA-SX-A7SU-01A-11D-A35Z-10	TCGA-SX-A7SU-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	06de0d9e-db97-4250-a774-fa0f4eabbe74	7d1da0d0-0c30-4440-b607-036215cc6509	g.chr2:219619110T>A	ENST00000392102.1	+	20	3938	c.3598T>A	c.(3598-3600)Taa>Aaa	p.*1200K	TTLL4_ENST00000457313.1_3'UTR|TTLL4_ENST00000442769.1_Nonstop_Mutation_p.*1136K|TTLL4_ENST00000258398.4_Nonstop_Mutation_p.*1200K	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	0					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)		TGTGAGCCCATAACTGGCCTC	0.557																																					GBM(172;1818 2053 15407 20943 49753)											0													70	70	70					2																	219619110		2203	4300	6503	SO:0001578	stop_lost	9654				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.3598T>A	chr2.hg19:g.219619110T>A	ENSP00000375951:p.*1200Lysext*28		A8K6V5|Q8WW29	Missense_Mutation	SNP	ENST00000392102.1	hg19	CCDS2422.1	.	.	.	.	.	.	.	.	.	.	T	10.53	1.376609	0.24857	.	.	ENSG00000135912	ENST00000392102;ENST00000442769;ENST00000258398	.	.	.	4.92	3.73	0.42828	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.4435	0.27198	0.0:0.0977:0.0:0.9023	.	.	.	.	K	1200;1136;1200	.	.	X	+	1	0	TTLL4	219327354	0.759000	0.28416	0.391000	0.26233	0.148000	0.21650	1.529000	0.35996	0.877000	0.35895	0.528000	0.53228	TAA		0.557	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256726.1	NM_014640		A	219619110	T	A	219619110	4	1	796	1	0	0	0	0	0	0	0	0	16734	1419	49	5	3668	5	TTLL4	2	219619110	Nonstop_Mutation	SNP	T	TCGA-SX-A7SU-01A-11D-A35Z-10	180806290	219619110	23580263	4	47461											
IMPG2	50939	hgsc.bcm.edu	37	3	100964931	100964931	+	Missense_Mutation	SNP	C	C	T			TCGA-SX-A7SU-01A-11D-A35Z-10	TCGA-SX-A7SU-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	06de0d9e-db97-4250-a774-fa0f4eabbe74	7d1da0d0-0c30-4440-b607-036215cc6509	g.chr3:100964931C>T	ENST00000193391.7	-	12	1445	c.1258G>A	c.(1258-1260)Gca>Aca	p.A420T		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	420					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	GAGGGCCATGCAGCTTGAAAG	0.423																																																0													76	86	83					3																	100964931		2203	4300	6503	SO:0001583	missense	50939			AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.1258G>A	chr3.hg19:g.100964931C>T	ENSP00000193391:p.Ala420Thr		A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	ENST00000193391.7	hg19	CCDS2940.1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.620949	0.66787	.	.	ENSG00000081148	ENST00000193391	T	0.22539	1.95	5.91	5.91	0.95273	.	0.319686	0.30695	N	0.009080	T	0.12774	0.0310	N	0.08118	0	0.31449	N	0.67096	P;B	0.34462	0.454;0.309	B;B	0.26770	0.073;0.073	T	0.04216	-1.0968	10	0.37606	T	0.19	-4.6946	20.2983	0.98569	0.0:1.0:0.0:0.0	.	420;420	F1T0J3;Q9BZV3	.;IMPG2_HUMAN	T	420	ENSP00000193391:A420T	ENSP00000193391:A420T	A	-	1	0	IMPG2	102447621	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	4.941000	0.63540	2.802000	0.96397	0.655000	0.94253	GCA		0.423	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3			T	100964931	C	T	100964931	3	4	796	1	0	0	0	0	1	0	0	0	7731	710	25	2	2499	2	IMPG2	3	100964931	Missense_Mutation	SNP	C	TCGA-SX-A7SU-01A-11D-A35Z-10		100964931	97057499	5	47462											
SPATA16	83893	hgsc.bcm.edu	37	3	172835337	172835337	+	Missense_Mutation	SNP	C	C	A			TCGA-SX-A7SU-01A-11D-A35Z-10	TCGA-SX-A7SU-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	06de0d9e-db97-4250-a774-fa0f4eabbe74	7d1da0d0-0c30-4440-b607-036215cc6509	g.chr3:172835337C>A	ENST00000351008.3	-	2	368	c.185G>T	c.(184-186)aGa>aTa	p.R62I		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	62					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)				breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			CATTTTTGTTCTTTCAAGTGT	0.388																																																0													323	310	314					3																	172835337		2203	4300	6503	SO:0001583	missense	83893			AF345909	CCDS3221.1	3q26.31	2009-01-05			ENSG00000144962	ENSG00000144962			29935	protein-coding gene	gene with protein product		609856				12529416, 17847006	Standard	NM_031955		Approved	NYD-SP12	uc003fin.4	Q9BXB7	OTTHUMG00000156865	ENST00000351008.3:c.185G>T	chr3.hg19:g.172835337C>A	ENSP00000341765:p.Arg62Ile		Q0R0N4|Q0R0S0|Q0R0W2|Q0R129|Q0R131|Q0R140|Q0R1B8|Q0R1G5|Q0R1I2|Q0R1J6|Q0R1S4|Q0R202|Q0R280|Q0R2F8|Q0R2N6|Q0R2N7|Q0R2R0|Q0R2R1|Q0R2S3|Q0R2S4|Q0R2S5|Q0R2T4|Q0R2T7|Q0R2U2|Q0R2U8|Q0R2U9|Q0R2V5|Q0R2V7|Q8NE67	Missense_Mutation	SNP	ENST00000351008.3	hg19	CCDS3221.1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.456127	0.43634	.	.	ENSG00000144962	ENST00000351008	T	0.25749	1.78	5.27	5.27	0.74061	.	0.000000	0.64402	D	0.000015	T	0.33702	0.0872	L	0.29908	0.895	0.44508	D	0.997459	D	0.63880	0.993	P	0.60682	0.878	T	0.06698	-1.0812	10	0.87932	D	0	-19.4976	11.2051	0.48765	0.0:0.915:0.0:0.085	.	62	Q9BXB7	SPT16_HUMAN	I	62	ENSP00000341765:R62I	ENSP00000341765:R62I	R	-	2	0	SPATA16	174318031	0.960000	0.32886	0.985000	0.45067	0.578000	0.36192	1.129000	0.31381	2.450000	0.82876	0.650000	0.86243	AGA		0.388	SPATA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346322.1	NM_031955		A	172835337	C	A	172835337	3	1	796	1	0	0	0	0	1	0	0	0	15006	913	32	4	1564	4	SPATA16	3	172835337	Missense_Mutation	SNP	C	TCGA-SX-A7SU-01A-11D-A35Z-10	71870406	172835337	25187093	6	47463											
PPP1R2	5504	hgsc.bcm.edu	37	3	195250521	195250521	+	Silent	SNP	C	C	T			TCGA-SX-A7SU-01A-11D-A35Z-10	TCGA-SX-A7SU-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	06de0d9e-db97-4250-a774-fa0f4eabbe74	7d1da0d0-0c30-4440-b607-036215cc6509	g.chr3:195250521C>T	ENST00000328432.3	-	4	732	c.372G>A	c.(370-372)gaG>gaA	p.E124E	RNU6ATAC24P_ENST00000516811.1_RNA	NM_006241.4	NP_006232.1	P41236	IPP2_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 2	124					generation of precursor metabolites and energy (GO:0006091)|glycogen metabolic process (GO:0005977)|negative regulation of catalytic activity (GO:0043086)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of signal transduction (GO:0009966)		protein serine/threonine phosphatase inhibitor activity (GO:0004865)			endometrium(2)|kidney(1)|large_intestine(1)|urinary_tract(2)	6	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)		Epithelial(36;2.64e-22)|all cancers(36;2.69e-20)|OV - Ovarian serous cystadenocarcinoma(49;3.52e-19)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;9.55e-05)		CACTATCCTCCTCTCCACTGC	0.393																																																0													88	72	77					3																	195250521		2203	4300	6503	SO:0001819	synonymous_variant	5504			U68111	CCDS3309.1	3q29	2012-04-17			ENSG00000184203	ENSG00000184203	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9288	protein-coding gene	gene with protein product		601792				9126490, 8119416	Standard	XM_006713682		Approved	IPP2	uc003fup.3	P41236	OTTHUMG00000155887	ENST00000328432.3:c.372G>A	chr3.hg19:g.195250521C>T				Silent	SNP	ENST00000328432.3	hg19	CCDS3309.1																																																																																				0.393	PPP1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342133.1	NM_006241		T	195250521	C	T	195250521	2	4	796	1	0	0	0	0	0	0	0	1	12375	680	24	2		2	PPP1R2	3	195250521	Silent	SNP	C	TCGA-SX-A7SU-01A-11D-A35Z-10	22415184	195250521	2771909	7	47464											
FRYL	285527	hgsc.bcm.edu	37	4	48552657	48552657	+	Missense_Mutation	SNP	C	C	G			TCGA-SX-A7SU-01A-11D-A35Z-10	TCGA-SX-A7SU-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	06de0d9e-db97-4250-a774-fa0f4eabbe74	7d1da0d0-0c30-4440-b607-036215cc6509	g.chr4:48552657C>G	ENST00000503238.1	-	35	4584	c.4585G>C	c.(4585-4587)Gaa>Caa	p.E1529Q	FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000537810.1_Missense_Mutation_p.E1529Q|FRYL_ENST00000358350.4_Missense_Mutation_p.E1529Q|FRYL_ENST00000507711.1_Missense_Mutation_p.E1529Q|FRYL_ENST00000507873.2_5'UTR			O94915	FRYL_HUMAN	FRY-like	1529					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						TATCGGGATTCTAGTCTGTGA	0.373																																																0													186	169	174					4																	48552657		1890	4106	5996	SO:0001583	missense	285527			AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"KIAA0826", "furry homolog-like (Drosophila)"	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.4585G>C	chr4.hg19:g.48552657C>G	ENSP00000426064:p.Glu1529Gln		O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	hg19	CCDS43227.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.83|19.83	3.900152|3.900152	0.72754|0.72754	.|.	.|.	ENSG00000075539|ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711|ENST00000514617	T;T;T;T|.	0.55588|.	1.82;1.82;1.82;0.51|.	5.53|5.53	5.53|5.53	0.82687|0.82687	Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75236|0.75236	0.3822|0.3822	M|M	0.68593|0.68593	2.085|2.085	0.80722|0.80722	D|D	1|1	D;D;P;P|.	0.63880|.	0.981;0.993;0.941;0.938|.	D;D;P;P|.	0.72982|.	0.932;0.979;0.71;0.849|.	T|T	0.73398|0.73398	-0.3995|-0.3995	10|5	0.33141|.	T|.	0.24|.	.|.	19.4662|19.4662	0.94943|0.94943	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1529;360;1529;1529|.	F2Z2S2;Q6ZR29;O94915;F5GX82|.	.;.;FRYL_HUMAN;.|.	Q|T	1529|399	ENSP00000426064:E1529Q;ENSP00000351113:E1529Q;ENSP00000441114:E1529Q;ENSP00000421584:E1529Q|.	ENSP00000351113:E1529Q|.	E|R	-|-	1|2	0|0	FRYL|FRYL	48247414|48247414	1.000000|1.000000	0.71417|0.71417	0.950000|0.950000	0.38849|0.38849	0.080000|0.080000	0.17528|0.17528	7.484000|7.484000	0.81180|0.81180	2.582000|2.582000	0.87167|0.87167	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.373	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			G	48552657	C	G	48552657	3	3	796	1	0	0	0	0	1	0	0	0	6066	922	32	4	4564	4	FRYL	4	48552657	Missense_Mutation	SNP	C	TCGA-SX-A7SU-01A-11D-A35Z-10		48552657	142601619	8	47465											
FAM190A	401145	hgsc.bcm.edu	37	4	91321220	91321221	+	Missense_Mutation	DNP	GA	GA	AC			TCGA-SX-A7SU-01A-11D-A35Z-10	TCGA-SX-A7SU-10A-01D-A35Z-10	G|A	G|A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	06de0d9e-db97-4250-a774-fa0f4eabbe74	7d1da0d0-0c30-4440-b607-036215cc6509	g.chr4:91321220_91321221GA>AC	ENST00000509176.1	+	4	1831_1832	c.1543_1544GA>AC	c.(1543-1545)GAt>ACt	p.D515T	CCSER1_ENST00000333691.8_Missense_Mutation_p.D515T|CCSER1_ENST00000432775.2_Missense_Mutation_p.D515T	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	515																	TTGTGAACTGGATGAAGATGAT	0.332																																																0																																										SO:0001583	missense	401145				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	Exception_encountered	chr4.hg19:g.91321220_91321221delinsAC	ENSP00000425040:p.Asp515Thr		Q4W5M0|Q86V57	Missense_Mutation	SNP	ENST00000509176.1	hg19	CCDS47099.1																																																																																				0.332	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363109.3	NM_001145065		AC	91321221	GA	AC	91321220	3	1	796	1	0	0	0	0	1	0	0	0	5523	1174	41	2	1553	2	FAM190A	4	91321220	Missense_Mutation	DNP	GA	TCGA-SX-A7SU-01A-11D-A35Z-10	42768563	91321220	99833056	9	47466											
FRG1	2483	hgsc.bcm.edu	37	4	190884267	190884267	+	Missense_Mutation	SNP	G	G	A	rs373037319		TCGA-SX-A7SU-01A-11D-A35Z-10	TCGA-SX-A7SU-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	06de0d9e-db97-4250-a774-fa0f4eabbe74	7d1da0d0-0c30-4440-b607-036215cc6509	g.chr4:190884267G>A	ENST00000226798.4	+	9	982	c.760G>A	c.(760-762)Gac>Aac	p.D254N		NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	254					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)		ATTGAAAGCCGACAGATACTG	0.299																																																0													99	111	107					4																	190884267		2203	4300	6503	SO:0001583	missense	2483			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.760G>A	chr4.hg19:g.190884267G>A	ENSP00000226798:p.Asp254Asn		A8K775	Missense_Mutation	SNP	ENST00000226798.4	hg19	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	21.9	4.222509	0.79464	.	.	ENSG00000109536	ENST00000226798	T	0.65916	-0.18	4.0	4.0	0.46444	.	0.000000	0.85682	D	0.000000	T	0.80994	0.4731	M	0.89715	3.055	0.80722	D	1	D	0.76494	0.999	D	0.66716	0.946	D	0.85581	0.1240	10	0.72032	D	0.01	-19.8783	14.0213	0.64558	0.0:0.0:1.0:0.0	.	254	Q14331	FRG1_HUMAN	N	254	ENSP00000226798:D254N	ENSP00000226798:D254N	D	+	1	0	FRG1	191121261	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	9.201000	0.95017	1.976000	0.57569	0.479000	0.44913	GAC		0.299	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		A	190884267	G	A	190884267	3	1	796	1	0	0	0	0	1	0	0	0	6048	1058	37	1	794	1	FRG1	4	190884267	Missense_Mutation	SNP	G	TCGA-SX-A7SU-01A-11D-A35Z-10	99563047	190884267	270009	10	47467											
C5orf55	116349	hgsc.bcm.edu	37	5	442810	442810	+	Missense_Mutation	SNP	C	C	T			TCGA-SX-A7SU-01A-11D-A35Z-10	TCGA-SX-A7SU-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	06de0d9e-db97-4250-a774-fa0f4eabbe74	7d1da0d0-0c30-4440-b607-036215cc6509	g.chr5:442810C>T	ENST00000408966.2	-	1	448	c.128G>A	c.(127-129)gGg>gAg	p.G43E	EXOC3_ENST00000512944.1_5'Flank	NM_138464.2	NP_612473.1	Q8N2X6	CE055_HUMAN	chromosome 5 open reading frame 55	43						extracellular region (GO:0005576)				large_intestine(1)|lung(2)	3						CGTTTGATTCCCAACCTTCTC	0.597																																																0													149	166	161					5																	442810		1980	4155	6135	SO:0001583	missense	116349			BC014011	CCDS43298.1	5p15.33	2012-02-24			ENSG00000221990	ENSG00000221990			25175	protein-coding gene	gene with protein product						12477932	Standard	NM_138464		Approved		uc010ita.3	Q8N2X6	OTTHUMG00000162235	ENST00000408966.2:c.128G>A	chr5.hg19:g.442810C>T	ENSP00000386139:p.Gly43Glu		Q96CR9	Missense_Mutation	SNP	ENST00000408966.2	hg19	CCDS43298.1	.	.	.	.	.	.	.	.	.	.	C	5.021	0.189573	0.09547	.	.	ENSG00000221990	ENST00000408966	T	0.46451	0.87	0.677	-1.35	0.09114	.	.	.	.	.	T	0.21307	0.0513	N	0.08118	0	0.09310	N	1	P	0.50710	0.938	B	0.43754	0.43	T	0.14254	-1.0479	8	0.87932	D	0	.	.	.	.	.	43	Q8N2X6	CE055_HUMAN	E	43	ENSP00000386139:G43E	ENSP00000386139:G43E	G	-	2	0	C5orf55	495810	0.002000	0.14202	0.001000	0.08648	0.023000	0.10783	0.811000	0.27198	-0.457000	0.07033	0.205000	0.17691	GGG		0.597	C5orf55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368033.1	NM_138464		T	442810	C	T	442810	3	4	796	1	0	0	0	0	1	0	0	0	2313	623	22	2	235	2	C5orf55	5	442810	Missense_Mutation	SNP	C	TCGA-SX-A7SU-01A-11D-A35Z-10		442810	180472450	11	47468											
COL4A3BP	10087	hgsc.bcm.edu	37	5	74677819	74677819	+	Silent	SNP	T	T	C			TCGA-SX-A7SU-01A-11D-A35Z-10	TCGA-SX-A7SU-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	06de0d9e-db97-4250-a774-fa0f4eabbe74	7d1da0d0-0c30-4440-b607-036215cc6509	g.chr5:74677819T>C	ENST00000405807.4	-	15	1993	c.1572A>G	c.(1570-1572)gaA>gaG	p.E524E	COL4A3BP_ENST00000261415.7_Silent_p.E498E|COL4A3BP_ENST00000508692.1_5'UTR|COL4A3BP_ENST00000380494.5_Silent_p.E652E	NM_005713.2	NP_005704.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	524	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|ceramide metabolic process (GO:0006672)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi ceramide transport (GO:0035621)|heart morphogenesis (GO:0003007)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lipid homeostasis (GO:0055088)|mitochondrion morphogenesis (GO:0070584)|muscle contraction (GO:0006936)|protein phosphorylation (GO:0006468)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ceramide binding (GO:0097001)|ceramide transporter activity (GO:0035620)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein kinase activity (GO:0004672)			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		CTATCCAAGTTTCAGGGTCAT	0.358																																																0													72	72	72					5																	74677819		2203	4300	6503	SO:0001819	synonymous_variant	10087			AF136450	CCDS4028.1, CCDS4029.1, CCDS47235.1	5q13.3	2013-01-10	2007-06-08	2007-06-08	ENSG00000113163	ENSG00000113163		"StAR-related lipid transfer (START) domain containing", "Pleckstrin homology (PH) domain containing"	2205	protein-coding gene	gene with protein product	"ceramide transporter", "StAR-related lipid transfer (START) domain containing 11"	604677				10212244	Standard	NM_001130105		Approved	GPBP, STARD11, CERT	uc003kdt.3	Q9Y5P4	OTTHUMG00000102068	ENST00000405807.4:c.1572A>G	chr5.hg19:g.74677819T>C			A8K7S2|B3KUB7|Q53YV1|Q53YV2|Q96Q85|Q96Q88|Q9H2S7|Q9H2S8	Silent	SNP	ENST00000405807.4	hg19	CCDS4028.1	.	.	.	.	.	.	.	.	.	.	T	10.21	1.287259	0.23478	.	.	ENSG00000113163	ENST00000508809	.	.	.	6.04	2.29	0.28610	.	.	.	.	.	T	0.53997	0.1831	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41466	-0.9507	4	.	.	.	-14.7757	6.1178	0.20136	0.0:0.1942:0.1241:0.6817	.	.	.	.	D	26	.	.	N	-	1	0	COL4A3BP	74713575	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.125000	0.31332	0.161000	0.19458	0.529000	0.55759	AAC		0.358	COL4A3BP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219875.2	NM_005713		C	74677819	T	C	74677819	2	2	796	1	0	0	0	0	0	0	0	1	3694	1838	64	3		3	COL4A3BP	5	74677819	Silent	SNP	T	TCGA-SX-A7SU-01A-11D-A35Z-10	74235009	74677819	106237441	12	47469											
PHAX	51808	hgsc.bcm.edu	37	5	125939501	125939501	+	Missense_Mutation	SNP	G	G	C			TCGA-SX-A7SU-01A-11D-A35Z-10	TCGA-SX-A7SU-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	06de0d9e-db97-4250-a774-fa0f4eabbe74	7d1da0d0-0c30-4440-b607-036215cc6509	g.chr5:125939501G>C	ENST00000297540.4	+	2	1031	c.336G>C	c.(334-336)aaG>aaC	p.K112N	PHAX_ENST00000514725.1_3'UTR	NM_032177.3	NP_115553.2	Q9H814	PHAX_HUMAN	phosphorylated adaptor for RNA export	112	Necessary for interaction with CBP80. {ECO:0000250}.				gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|protein transport (GO:0015031)|RNA metabolic process (GO:0016070)|snRNA export from nucleus (GO:0006408)|spliceosomal snRNP assembly (GO:0000387)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA binding (GO:0003723)|toxic substance binding (GO:0015643)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	8						CTGGAGGAAAGAAGATTAACA	0.468																																																0													76	73	74					5																	125939501		2203	4300	6503	SO:0001583	missense	51808			AK023255	CCDS4138.1	5q23.2	2011-05-24	2008-10-01	2008-10-01	ENSG00000164902	ENSG00000164902			10241	protein-coding gene	gene with protein product		604924	"RNA U, small nuclear RNA export adaptor (phosphorylation regulated)"	RNUXA		10786834	Standard	NM_032177		Approved	FLJ13193	uc003kua.2	Q9H814	OTTHUMG00000163273	ENST00000297540.4:c.336G>C	chr5.hg19:g.125939501G>C	ENSP00000297540:p.Lys112Asn		Q9H8W1	Missense_Mutation	SNP	ENST00000297540.4	hg19	CCDS4138.1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.706865	0.48412	.	.	ENSG00000164902	ENST00000297540;ENST00000456348	T	0.23552	1.9	5.74	3.96	0.45880	.	0.155351	0.56097	D	0.000029	T	0.28134	0.0694	L	0.59436	1.845	0.39908	D	0.973988	P	0.48089	0.905	P	0.45119	0.47	T	0.06570	-1.0819	10	0.62326	D	0.03	-21.8128	8.3183	0.32113	0.2939:0.0:0.7061:0.0	.	112	Q9H814	PHAX_HUMAN	N	112	ENSP00000297540:K112N	ENSP00000297540:K112N	K	+	3	2	PHAX	125967400	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	1.025000	0.30090	0.781000	0.33589	0.655000	0.94253	AAG		0.468	PHAX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250924.1	NM_032177		C	125939501	G	C	125939501	3	2	796	1	0	0	0	0	1	0	0	0	11815	933	33	4	342	4	PHAX	5	125939501	Missense_Mutation	SNP	G	TCGA-SX-A7SU-01A-11D-A35Z-10	51261682	125939501	54975759	13	47470											
CTNNA1	1495	hgsc.bcm.edu	37	5	138266330	138266330	+	Missense_Mutation	SNP	A	A	G			TCGA-SX-A7SU-01A-11D-A35Z-10	TCGA-SX-A7SU-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	06de0d9e-db97-4250-a774-fa0f4eabbe74	7d1da0d0-0c30-4440-b607-036215cc6509	g.chr5:138266330A>G	ENST00000302763.7	+	15	2269	c.2179A>G	c.(2179-2181)Aca>Gca	p.T727A	CTNNA1_ENST00000355078.5_Missense_Mutation_p.T624A|CTNNA1_ENST00000518825.1_Missense_Mutation_p.T727A|CTNNA1_ENST00000540387.1_Missense_Mutation_p.T357A	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	727					adherens junction organization (GO:0034332)|aging (GO:0007568)|apical junction assembly (GO:0043297)|axon regeneration (GO:0031103)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular protein localization (GO:0034613)|cellular response to indole-3-methanol (GO:0071681)|epithelial cell-cell adhesion (GO:0090136)|establishment or maintenance of cell polarity (GO:0007163)|gap junction assembly (GO:0016264)|male gonad development (GO:0008584)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell motility (GO:2000146)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|negative regulation of neuroblast proliferation (GO:0007406)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of smoothened signaling pathway (GO:0045880)|protein heterooligomerization (GO:0051291)|response to estrogen (GO:0043627)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|catenin complex (GO:0016342)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|gamma-catenin binding (GO:0045295)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|vinculin binding (GO:0017166)			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GATGGAGATGACAGACTTTAC	0.567																																																0													162	153	156					5																	138266330		2203	4300	6503	SO:0001583	missense	1495			D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115			2509	protein-coding gene	gene with protein product		116805	"catenin (cadherin-associated protein), alpha 1 (102kD)"			1924379	Standard	XM_005271898		Approved	CAP102	uc003ldh.3	P35221		ENST00000302763.7:c.2179A>G	chr5.hg19:g.138266330A>G	ENSP00000304669:p.Thr727Ala		Q12795|Q8N1C0	Missense_Mutation	SNP	ENST00000302763.7	hg19	CCDS34243.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.634797	0.87760	.	.	ENSG00000044115	ENST00000355078;ENST00000302763;ENST00000537034;ENST00000541863;ENST00000518825;ENST00000540387;ENST00000520520	T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.61850	0.2380	M	0.64404	1.975	0.80722	D	1	D;D;D	0.89917	1.0;0.995;0.998	D;D;D	0.85130	0.997;0.986;0.983	T	0.58962	-0.7543	10	0.35671	T	0.21	-19.3613	16.0443	0.80707	1.0:0.0:0.0:0.0	.	727;604;727	G3XAM7;B4DKT9;P35221	.;.;CTNA1_HUMAN	A	624;727;727;712;727;357;2	ENSP00000347190:T624A;ENSP00000304669:T727A;ENSP00000427821:T727A;ENSP00000438476:T357A;ENSP00000430076:T2A	ENSP00000304669:T727A	T	+	1	0	CTNNA1	138294229	1.000000	0.71417	0.998000	0.56505	0.802000	0.45316	9.057000	0.93889	2.326000	0.78906	0.533000	0.62120	ACA		0.567	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373868.1	NM_001903		G	138266330	A	G	138266330	3	3	796	1	0	0	0	0	1	0	0	0	4014	275	10	3	2233	3	CTNNA1	5	138266330	Missense_Mutation	SNP	A	TCGA-SX-A7SU-01A-11D-A35Z-10	12326829	138266330	42648930	14	47471											
F12	2161	hgsc.bcm.edu	37	5	176830954	176830954	+	Missense_Mutation	SNP	A	A	G			TCGA-SX-A7SU-01A-11D-A35Z-10	TCGA-SX-A7SU-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	06de0d9e-db97-4250-a774-fa0f4eabbe74	7d1da0d0-0c30-4440-b607-036215cc6509	g.chr5:176830954A>G	ENST00000253496.3	-	10	1204	c.1156T>C	c.(1156-1158)Tac>Cac	p.Y386H	F12_ENST00000514943.1_5'Flank	NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	386	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				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)	GCGGCGATGTAGGGGTGCGCC	0.706									Hereditary Angioedema		OREG0017088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													12	15	14					5																	176830954		2188	4284	6472	SO:0001583	missense	2161	Familial Cancer Database	HAE, type I-III, Hereditary Angioneurotic Edema, HANE,	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.1156T>C	chr5.hg19:g.176830954A>G	ENSP00000253496:p.Tyr386His	1934	P78339	Missense_Mutation	SNP	ENST00000253496.3	hg19	CCDS34302.1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.648256	0.87958	.	.	ENSG00000131187	ENST00000253496	T	0.62498	0.02	5.61	5.61	0.85477	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.42682	D	0.000678	T	0.67183	0.2866	N	0.20845	0.615	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.72394	-0.4307	10	0.87932	D	0	.	14.7703	0.69671	1.0:0.0:0.0:0.0	.	386	P00748	FA12_HUMAN	H	386	ENSP00000253496:Y386H	ENSP00000253496:Y386H	Y	-	1	0	F12	176763560	1.000000	0.71417	1.000000	0.80357	0.424000	0.31475	4.136000	0.58004	2.137000	0.66172	0.459000	0.35465	TAC		0.706	F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373217.1			G	176830954	A	G	176830954	3	3	796	1	0	0	0	0	1	0	0	0	5341	420	15	3	711	3	F12	5	176830954	Missense_Mutation	SNP	A	TCGA-SX-A7SU-01A-11D-A35Z-10	38564624	176830954	4084306	15	47472											
SYCP2L	221711	hgsc.bcm.edu	37	6	10935326	10935326	+	Silent	SNP	C	C	T			TCGA-SX-A7SU-01A-11D-A35Z-10	TCGA-SX-A7SU-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	06de0d9e-db97-4250-a774-fa0f4eabbe74	7d1da0d0-0c30-4440-b607-036215cc6509	g.chr6:10935326C>T	ENST00000283141.6	+	21	2015	c.1719C>T	c.(1717-1719)ccC>ccT	p.P573P		NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	573						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)			AAGAAATACCCGAGCAAAATA	0.313																																																0													77	71	73					6																	10935326		1794	4077	5871	SO:0001819	synonymous_variant	221711			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.1719C>T	chr6.hg19:g.10935326C>T			A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Silent	SNP	ENST00000283141.6	hg19	CCDS43423.1																																																																																				0.313	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039845.3	NM_194299		T	10935326	C	T	10935326	2	4	796	1	0	0	0	0	0	0	0	1	15438	639	23	1		1	SYCP2L	6	10935326	Silent	SNP	C	TCGA-SX-A7SU-01A-11D-A35Z-10		10935326	160179741	16	47473											
C6orf58	352999	hgsc.bcm.edu	37	6	127911437	127911437	+	Missense_Mutation	SNP	C	C	G			TCGA-SX-A7SU-01A-11D-A35Z-10	TCGA-SX-A7SU-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	06de0d9e-db97-4250-a774-fa0f4eabbe74	7d1da0d0-0c30-4440-b607-036215cc6509	g.chr6:127911437C>G	ENST00000329722.7	+	5	892	c.880C>G	c.(880-882)Cta>Gta	p.L294V		NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN	chromosome 6 open reading frame 58	294						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)		CCTGGTTCTTCTAAATATGCT	0.338																																																0													135	139	138					6																	127911437		2203	4300	6503	SO:0001583	missense	352999			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.880C>G	chr6.hg19:g.127911437C>G	ENSP00000328069:p.Leu294Val		B4E1I0|Q5VUP2	Missense_Mutation	SNP	ENST00000329722.7	hg19	CCDS34533.1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.251728	0.39797	.	.	ENSG00000184530	ENST00000329722	T	0.53423	0.62	5.11	-6.07	0.02158	.	0.135773	0.50627	N	0.000106	T	0.17152	0.0412	M	0.74546	2.27	0.09310	N	1	B	0.32862	0.387	B	0.34873	0.191	T	0.18053	-1.0349	10	0.59425	D	0.04	-3.1435	0.0452	0.00010	0.3222:0.1806:0.2115:0.2856	.	294	Q6P5S2	CF058_HUMAN	V	294	ENSP00000328069:L294V	ENSP00000328069:L294V	L	+	1	2	C6orf58	127953130	0.002000	0.14202	0.000000	0.03702	0.003000	0.03518	-0.091000	0.11146	-1.770000	0.01295	-0.136000	0.14681	CTA		0.338	C6orf58-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042152.1	NM_001010905		G	127911437	C	G	127911437	3	3	796	1	0	0	0	0	1	0	0	0	2369	912	32	4	898	4	C6orf58	6	127911437	Missense_Mutation	SNP	C	TCGA-SX-A7SU-01A-11D-A35Z-10	116976111	127911437	43203630	17	47474											
CITED2	10370	hgsc.bcm.edu	37	6	139694378	139694378	+	Missense_Mutation	SNP	A	A	G			TCGA-SX-A7SU-01A-11D-A35Z-10	TCGA-SX-A7SU-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	06de0d9e-db97-4250-a774-fa0f4eabbe74	7d1da0d0-0c30-4440-b607-036215cc6509	g.chr6:139694378A>G	ENST00000367651.2	-	2	919	c.704T>C	c.(703-705)aTg>aCg	p.M235T	CITED2_ENST00000537332.1_Missense_Mutation_p.M235T|CITED2_ENST00000536159.1_Missense_Mutation_p.M235T	NM_006079.4	NP_006070.2	Q99967	CITE2_HUMAN	Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2	235	Asp/Glu-rich (acidic).				adrenal cortex formation (GO:0035802)|bone morphogenesis (GO:0060349)|cardiac neural crest cell development involved in heart development (GO:0061308)|cell aging (GO:0007569)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|cranial nerve morphogenesis (GO:0021602)|decidualization (GO:0046697)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|endocardial cushion development (GO:0003197)|erythrocyte development (GO:0048821)|granulocyte differentiation (GO:0030851)|heart development (GO:0007507)|heart looping (GO:0001947)|hematopoietic progenitor cell differentiation (GO:0002244)|left/right axis specification (GO:0070986)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of gene expression (GO:0010629)|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)|neural tube closure (GO:0001843)|nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900164)|outflow tract morphogenesis (GO:0003151)|peripheral nervous system development (GO:0007422)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of gene expression (GO:0010628)|positive regulation of male gonad development (GO:2000020)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|pulmonary artery morphogenesis (GO:0061156)|regulation of organ formation (GO:0003156)|regulation of RNA biosynthetic process (GO:2001141)|response to estrogen (GO:0043627)|response to fluid shear stress (GO:0034405)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|sex determination (GO:0007530)|skeletal muscle cell differentiation (GO:0035914)|spleen development (GO:0048536)|thymus development (GO:0048538)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|LBD domain binding (GO:0050693)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			large_intestine(1)|lung(4)	5	Breast(32;0.226)			GBM - Glioblastoma multiforme(68;0.000171)|OV - Ovarian serous cystadenocarcinoma(155;0.00134)		GTCCAAACCCATTTCTATCAC	0.547																																					NSCLC(98;1219 1550 33720 43229 49330)											0													79	80	80					6																	139694378		2203	4300	6503	SO:0001583	missense	10370			U65093	CCDS5195.1, CCDS75530.1	6q23.3	2008-08-29			ENSG00000164442	ENSG00000164442			1987	protein-coding gene	gene with protein product		602937				8901575, 10552932	Standard	NM_006079		Approved	MRG1	uc021zfz.2	Q99967	OTTHUMG00000015691	ENST00000367651.2:c.704T>C	chr6.hg19:g.139694378A>G	ENSP00000356623:p.Met235Thr		O95426|Q5VTF4	Missense_Mutation	SNP	ENST00000367651.2	hg19	CCDS5195.1	.	.	.	.	.	.	.	.	.	.	A	16.62	3.175054	0.57692	.	.	ENSG00000164442	ENST00000367651;ENST00000536159;ENST00000537332;ENST00000392312	T;T;T	0.66099	-0.19;-0.19;-0.19	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.34513	0.0900	N	0.24115	0.695	0.58432	D	0.999997	B	0.23128	0.08	B	0.28709	0.093	T	0.26121	-1.0112	9	.	.	.	-3.6977	15.9141	0.79496	1.0:0.0:0.0:0.0	.	235	Q99967	CITE2_HUMAN	T	235;235;235;179	ENSP00000356623:M235T;ENSP00000442831:M235T;ENSP00000444198:M235T	.	M	-	2	0	CITED2	139736071	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.875000	0.92372	2.156000	0.67533	0.533000	0.62120	ATG		0.547	CITED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042463.1			G	139694378	A	G	139694378	3	3	796	1	0	0	0	0	1	0	0	0	3442	217	8	3	112	3	CITED2	6	139694378	Missense_Mutation	SNP	A	TCGA-SX-A7SU-01A-11D-A35Z-10	11782941	139694378	31420689	18	47475											
PACRG	135138	hgsc.bcm.edu	37	6	163483263	163483263	+	Frame_Shift_Del	DEL	T	T	-			TCGA-SX-A7SU-01A-11D-A35Z-10	TCGA-SX-A7SU-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	06de0d9e-db97-4250-a774-fa0f4eabbe74	7d1da0d0-0c30-4440-b607-036215cc6509	g.chr6:163483263delT	ENST00000337019.3	+	4	597	c.373delT	c.(373-375)tttfs	p.F126fs	PACRG_ENST00000366888.2_Frame_Shift_Del_p.F126fs|PACRG_ENST00000366889.2_Frame_Shift_Del_p.F126fs	NM_152410.2	NP_689623.2	Q96M98	PACRG_HUMAN	PARK2 co-regulated	126					spermatid development (GO:0007286)	cell body (GO:0044297)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm midpiece (GO:0097225)				endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		TCCCTATGAGTTTTTTGCTCG	0.418																																																0													98	96	97					6																	163483263		2203	4300	6503	SO:0001589	frameshift_variant	135138			AK057286	CCDS5284.1, CCDS43524.1	6q26	2004-07-01			ENSG00000112530	ENSG00000112530			19152	protein-coding gene	gene with protein product		608427				12547187	Standard	NM_001080378		Approved	PARK2CRG, FLJ32724, Glup, HAK005771	uc003qua.3	Q96M98	OTTHUMG00000016116	ENST00000337019.3:c.373delT	chr6.hg19:g.163483263delT	ENSP00000337946:p.Phe126fs		E1P5B5|Q6IMB8|Q8IZM1|Q8NHP5|Q9H1V9	Frame_Shift_Del	DEL	ENST00000337019.3	hg19	CCDS5284.1																																																																																				0.418	PACRG-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400424.1	NM_152410		-	163483263	T	-	163483263	7	5	796	1	0	1	0	1	0	0	0	0	11372	1725	60	0	383	0	PACRG	6	163483263	Frame_Shift_Del	DEL	T	TCGA-SX-A7SU-01A-11D-A35Z-10	23788885	163483263	7631804	19	47476											
SGK223	157285	hgsc.bcm.edu	37	8	8235005	8235005	+	Frame_Shift_Del	DEL	G	G	-	rs538380081		TCGA-SX-A7SU-01A-11D-A35Z-10	TCGA-SX-A7SU-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	06de0d9e-db97-4250-a774-fa0f4eabbe74	7d1da0d0-0c30-4440-b607-036215cc6509	g.chr8:8235005delG	ENST00000520004.1	-	3	1178	c.914delC	c.(913-915)ccgfs	p.P305fs	SGK223_ENST00000330777.4_Frame_Shift_Del_p.P305fs			Q86YV5	SG223_HUMAN		305							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										GGGGAAGCTCGGGCCCCGCTT	0.672																																					GBM(34;731 755 10259 33573 33867)											0													12	17	15					8																	8235005		1892	4045	5937	SO:0001589	frameshift_variant	0																														ENST00000520004.1:c.914delC	chr8.hg19:g.8235005delG	ENSP00000428054:p.Pro305fs		Q8N3N5	Frame_Shift_Del	DEL	ENST00000520004.1	hg19	CCDS43706.1																																																																																				0.672	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			-	8235005	G	-	8235005	7	5	796	1	0	1	0	1	0	0	0	0	14216	1116	39	0	3310	0	SGK223	8	8235005	Frame_Shift_Del	DEL	G	TCGA-SX-A7SU-01A-11D-A35Z-10		8235005	138129017	20	47477											
SMARCA2	6595	hgsc.bcm.edu	37	9	2039785	2039785	+	Silent	SNP	G	G	A			TCGA-SX-A7SU-01A-11D-A35Z-10	TCGA-SX-A7SU-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	06de0d9e-db97-4250-a774-fa0f4eabbe74	7d1da0d0-0c30-4440-b607-036215cc6509	g.chr9:2039785G>A	ENST00000382203.1	+	4	884	c.675G>A	c.(673-675)caG>caA	p.Q225Q	SMARCA2_ENST00000382194.1_Silent_p.Q225Q|SMARCA2_ENST00000349721.2_Silent_p.Q225Q|SMARCA2_ENST00000357248.2_Silent_p.Q225Q|SMARCA2_ENST00000491574.1_3'UTR|RP11-264I13.2_ENST00000426860.1_RNA			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	225	Poly-Gln.				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)		aacagcagcagcagcagcagc	0.637																																																0													9	12	11					9																	2039785		2093	4139	6232	SO:0001819	synonymous_variant	6595			D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.675G>A	chr9.hg19:g.2039785G>A			B1ALG3|B1ALG4|D3DRH4|D3DRH5	Silent	SNP	ENST00000382203.1	hg19	CCDS34977.1																																																																																				0.637	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		A	2039785	G	A	2039785	2	1	796	1	0	0	0	0	0	0	0	1	14775	962	34	2		2	SMARCA2	9	2039785	Silent	SNP	G	TCGA-SX-A7SU-01A-11D-A35Z-10		2039785	139173646	21	47478			1	131		2	2	25	G		3.178577e-05
SMARCA2	6595	hgsc.bcm.edu	37	9	2039809	2039809	+	Silent	SNP	G	G	A			TCGA-SX-A7SU-01A-11D-A35Z-10	TCGA-SX-A7SU-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	06de0d9e-db97-4250-a774-fa0f4eabbe74	7d1da0d0-0c30-4440-b607-036215cc6509	g.chr9:2039809G>A	ENST00000382203.1	+	4	908	c.699G>A	c.(697-699)caG>caA	p.Q233Q	SMARCA2_ENST00000382194.1_Silent_p.Q233Q|SMARCA2_ENST00000349721.2_Silent_p.Q233Q|SMARCA2_ENST00000357248.2_Silent_p.Q233Q|SMARCA2_ENST00000491574.1_3'UTR|RP11-264I13.2_ENST00000426860.1_RNA			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	233	Poly-Gln.				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)		agcagcagcagcagcagcaac	0.587																																																0													9	12	11					9																	2039809		2085	4079	6164	SO:0001819	synonymous_variant	6595			D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.699G>A	chr9.hg19:g.2039809G>A			B1ALG3|B1ALG4|D3DRH4|D3DRH5	Silent	SNP	ENST00000382203.1	hg19	CCDS34977.1																																																																																				0.587	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		A	2039809	G	A	2039809	2	1	796	1	0	0	0	0	0	0	0	1	14775	962	34	2		2	SMARCA2	9	2039809	Silent	SNP	G	TCGA-SX-A7SU-01A-11D-A35Z-10	24	2039809	139173622	22	47479			1	131		2	2	25	G		3.178577e-05
UBAP2	55833	hgsc.bcm.edu	37	9	33944463	33944463	+	Missense_Mutation	SNP	T	T	G			TCGA-SX-A7SU-01A-11D-A35Z-10	TCGA-SX-A7SU-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	06de0d9e-db97-4250-a774-fa0f4eabbe74	7d1da0d0-0c30-4440-b607-036215cc6509	g.chr9:33944463T>G	ENST00000379238.1	-	14	1562	c.1445A>C	c.(1444-1446)cAg>cCg	p.Q482P	UBAP2_ENST00000418786.2_Missense_Mutation_p.Q429P|UBAP2_ENST00000449054.1_Missense_Mutation_p.Q482P|UBAP2_ENST00000379225.1_Missense_Mutation_p.Q115P|UBAP2_ENST00000360802.1_Missense_Mutation_p.Q482P|UBAP2_ENST00000539807.1_Missense_Mutation_p.Q237P|UBAP2_ENST00000379239.4_Missense_Mutation_p.Q215P					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)		GCTGGGAAGCTGCAAAAGCTT	0.512																																																0													126	114	118					9																	33944463		2203	4300	6503	SO:0001583	missense	55833			AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.1445A>C	chr9.hg19:g.33944463T>G	ENSP00000368540:p.Gln482Pro			Missense_Mutation	SNP	ENST00000379238.1	hg19	CCDS6547.1	.	.	.	.	.	.	.	.	.	.	T	15.88	2.962763	0.53507	.	.	ENSG00000137073	ENST00000379238;ENST00000449054;ENST00000360802;ENST00000431417;ENST00000379239;ENST00000539807;ENST00000418786;ENST00000379225	T;T;T;T;T;T;T	0.26810	2.58;2.58;2.58;2.35;2.36;2.01;1.71	5.53	5.53	0.82687	.	0.327428	0.32503	N	0.006019	T	0.45256	0.1333	L	0.53249	1.67	0.52501	D	0.999952	D;D;D;D;D;B;D;D	0.76494	0.986;0.999;0.974;0.986;0.986;0.031;0.998;0.997	P;D;P;P;P;B;D;P	0.69824	0.744;0.966;0.663;0.663;0.744;0.013;0.925;0.854	T	0.21211	-1.0252	10	0.33141	T	0.24	-6.8583	15.6764	0.77326	0.0:0.0:0.0:1.0	.	429;407;237;215;391;115;407;482	E7EWG4;F5H4D5;F5H2U4;A6NCA8;F5H2C8;A2A306;B4DH66;Q5T6F2	.;.;.;.;.;.;.;UBAP2_HUMAN	P	482;482;482;391;215;237;429;115	ENSP00000368540:Q482P;ENSP00000416932:Q482P;ENSP00000354039:Q482P;ENSP00000368541:Q215P;ENSP00000439329:Q237P;ENSP00000404436:Q429P;ENSP00000368527:Q115P	ENSP00000354039:Q482P	Q	-	2	0	UBAP2	33934463	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	2.623000	0.46435	2.111000	0.64477	0.528000	0.53228	CAG		0.512	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001071.1	NM_018449		G	33944463	T	G	33944463	3	3	796	1	0	0	0	0	1	0	0	0	16842	1580	55	5	1978	5	UBAP2	9	33944463	Missense_Mutation	SNP	T	TCGA-SX-A7SU-01A-11D-A35Z-10	31904654	33944463	107268968	23	47480											
HNRNPH3	3189	hgsc.bcm.edu	37	10	70098346	70098346	+	Missense_Mutation	SNP	C	C	A			TCGA-SX-A7SU-01A-11D-A35Z-10	TCGA-SX-A7SU-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	06de0d9e-db97-4250-a774-fa0f4eabbe74	7d1da0d0-0c30-4440-b607-036215cc6509	g.chr10:70098346C>A	ENST00000265866.7	+	4	503	c.338C>A	c.(337-339)cCa>cAa	p.P113Q	HNRNPH3_ENST00000469172.1_3'UTR|HNRNPH3_ENST00000354695.5_Missense_Mutation_p.P113Q|HNRNPH3_ENST00000441000.2_Intron	NM_012207.2|NM_021644.3	NP_036339.1|NP_067676.2	P31942	HNRH3_HUMAN	heterogeneous nuclear ribonucleoprotein H3 (2H9)	113	Gly-rich.				epithelial cell differentiation (GO:0030855)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)	11						CGACCGGGACCATATGATAGA	0.438																																																0													192	188	190					10																	70098346		2203	4300	6503	SO:0001583	missense	3189				CCDS7278.1, CCDS7279.1	10q22	2013-02-12		2008-04-18	ENSG00000096746	ENSG00000096746		"RNA binding motif (RRM) containing"	5043	protein-coding gene	gene with protein product		602324		HNRPH3		8999868	Standard	NM_021644		Approved	2H9	uc001jnw.4	P31942	OTTHUMG00000018349	ENST00000265866.7:c.338C>A	chr10.hg19:g.70098346C>A	ENSP00000265866:p.Pro113Gln		A8K682|B3KRE1|Q9BSX1|Q9NP53|Q9NP96|Q9NPA7|Q9NPI4|Q9UFU4|Q9Y4J5	Missense_Mutation	SNP	ENST00000265866.7	hg19	CCDS7278.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.113676	0.56398	.	.	ENSG00000096746	ENST00000265866;ENST00000354695	T;T	0.15834	2.59;2.39	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.47691	0.1459	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	T	0.36407	-0.9749	10	0.66056	D	0.02	.	20.6397	0.99537	0.0:1.0:0.0:0.0	.	113;113	P31942-2;P31942	.;HNRH3_HUMAN	Q	113	ENSP00000265866:P113Q;ENSP00000346726:P113Q	ENSP00000265866:P113Q	P	+	2	0	HNRNPH3	69768352	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.880000	0.98712	0.650000	0.86243	CCA		0.438	HNRNPH3-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090165.1			A	70098346	C	A	70098346	3	1	796	1	0	0	0	0	1	0	0	0	7270	594	21	4	348	4	HNRNPH3	10	70098346	Missense_Mutation	SNP	C	TCGA-SX-A7SU-01A-11D-A35Z-10		70098346	65436401	24	47481											
PANK1	53354	hgsc.bcm.edu	37	10	91359120	91359120	+	Missense_Mutation	SNP	T	T	C	rs371501466		TCGA-SX-A7SU-01A-11D-A35Z-10	TCGA-SX-A7SU-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	06de0d9e-db97-4250-a774-fa0f4eabbe74	7d1da0d0-0c30-4440-b607-036215cc6509	g.chr10:91359120T>C	ENST00000307534.4	-	3	1354	c.1199A>G	c.(1198-1200)aAg>aGg	p.K400R	PANK1_ENST00000371774.2_Missense_Mutation_p.K202R|PANK1_ENST00000342512.3_Missense_Mutation_p.K175R|PANK1_ENST00000322191.6_Missense_Mutation_p.K175R	NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN	pantothenate kinase 1	400					coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell periphery (GO:0071944)|clathrin coat (GO:0030118)|cytosol (GO:0005829)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11						GCAGTACGGCTTTTTTTGACA	0.438																																																0								T	ARG/LYS,ARG/LYS,ARG/LYS	0,4406		0,0,2203	231	209	217		524,1199,524	3.5	1	10		217	1,8599		0,1,4299	no	missense,missense,missense	PANK1	NM_138316.3,NM_148977.2,NM_148978.2	26,26,26	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign,benign,benign	175/315,400/599,175/374	91359120	1,13005	2203	4300	6503	SO:0001583	missense	53354			AF355198	CCDS7405.1, CCDS7406.1, CCDS31244.1	10q23.31	2008-05-14	2002-11-13	2002-11-15	ENSG00000152782	ENSG00000152782			8598	protein-coding gene	gene with protein product		606160	"pantothenate kinase"	PANK		11809413	Standard	NM_148977		Approved	MGC24596, PANK1a, PANK1b	uc001kgp.2	Q8TE04	OTTHUMG00000018718	ENST00000307534.4:c.1199A>G	chr10.hg19:g.91359120T>C	ENSP00000302108:p.Lys400Arg		A6NIP0|Q7RTX6|Q7Z495|Q8TBQ8	Missense_Mutation	SNP	ENST00000307534.4	hg19	CCDS31244.1	.	.	.	.	.	.	.	.	.	.	T	10.35	1.325206	0.24080	0.0	1.16E-4	ENSG00000152782	ENST00000342512;ENST00000322191;ENST00000371774;ENST00000307534;ENST00000371775	D;D;D;D	0.99519	-6.07;-6.07;-6.07;-6.07	5.89	3.48	0.39840	.	0.111375	0.64402	D	0.000008	D	0.96043	0.8711	N	0.11064	0.09	0.42341	D	0.992337	B;B;B;B	0.22800	0.0;0.075;0.0;0.0	B;B;B;B	0.18263	0.002;0.021;0.005;0.001	D	0.92579	0.6073	10	0.14656	T	0.56	.	8.0173	0.30389	0.1215:0.066:0.0:0.8125	.	202;400;175;175	Q8TE04-4;Q8TE04;Q8TE04-3;Q8TE04-2	.;PANK1_HUMAN;.;.	R	175;175;202;400;263	ENSP00000345118:K175R;ENSP00000318526:K175R;ENSP00000360839:K202R;ENSP00000302108:K400R	ENSP00000302108:K400R	K	-	2	0	PANK1	91349100	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.257000	0.32932	0.439000	0.26476	0.455000	0.32223	AAG		0.438	PANK1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				C	91359120	T	C	91359120	3	2	796	1	0	0	0	0	1	0	0	0	11418	1609	56	3	617	3	PANK1	10	91359120	Missense_Mutation	SNP	T	TCGA-SX-A7SU-01A-11D-A35Z-10	21260774	91359120	44175627	25	47482											
OR8H3	390152	hgsc.bcm.edu	37	11	55889939	55889939	+	Silent	SNP	C	C	T			TCGA-SX-A7SU-01A-11D-A35Z-10	TCGA-SX-A7SU-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	06de0d9e-db97-4250-a774-fa0f4eabbe74	7d1da0d0-0c30-4440-b607-036215cc6509	g.chr11:55889939C>T	ENST00000313472.3	+	1	91	c.91C>T	c.(91-93)Cta>Tta	p.L31L		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	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)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TCTGTTTATGCTATTTCTCCT	0.458																																																0													226	218	220					11																	55889939		2201	4296	6497	SO:0001819	synonymous_variant	390152			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.91C>T	chr11.hg19:g.55889939C>T			Q6IFB7	Silent	SNP	ENST00000313472.3	hg19	CCDS31519.1																																																																																				0.458	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1	NM_001005201		T	55889939	C	T	55889939	2	4	796	1	0	0	0	0	0	0	0	1	11241	796	28	2		2	OR8H3	11	55889939	Silent	SNP	C	TCGA-SX-A7SU-01A-11D-A35Z-10		55889939	79116577	26	47483											
TMEM109	79073	hgsc.bcm.edu	37	11	60689497	60689497	+	Missense_Mutation	SNP	C	C	G			TCGA-SX-A7SU-01A-11D-A35Z-10	TCGA-SX-A7SU-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	06de0d9e-db97-4250-a774-fa0f4eabbe74	7d1da0d0-0c30-4440-b607-036215cc6509	g.chr11:60689497C>G	ENST00000227525.3	+	4	995	c.592C>G	c.(592-594)Ctg>Gtg	p.L198V	TMEM109_ENST00000536171.1_Missense_Mutation_p.L198V|TMEM132A_ENST00000453848.2_5'Flank|TMEM132A_ENST00000005286.4_5'Flank|RP11-881M11.4_ENST00000543907.1_RNA	NM_024092.2	NP_076997.1	Q9BVC6	TM109_HUMAN	transmembrane protein 109	198					cellular response to gamma radiation (GO:0071480)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of cell death (GO:0060548)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						CCTCTACGCCCTGCTGAGCCG	0.682																																																0													40	43	42					11																	60689497		2203	4298	6501	SO:0001583	missense	79073				CCDS7996.1	11q12.2	2005-12-22				ENSG00000110108			28771	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_024092		Approved	MGC5508	uc001nqg.3	Q9BVC6		ENST00000227525.3:c.592C>G	chr11.hg19:g.60689497C>G	ENSP00000227525:p.Leu198Val			Missense_Mutation	SNP	ENST00000227525.3	hg19	CCDS7996.1	.	.	.	.	.	.	.	.	.	.	C	18.47	3.630859	0.67015	.	.	ENSG00000110108	ENST00000227525;ENST00000540407;ENST00000536171	.	.	.	4.9	-5.32	0.02722	.	0.384411	0.20666	N	0.087928	T	0.35711	0.0941	L	0.54323	1.7	0.28670	N	0.905657	B	0.13594	0.008	B	0.20767	0.031	T	0.39502	-0.9611	9	0.62326	D	0.03	-10.2472	9.1152	0.36753	0.0:0.5283:0.1885:0.2832	.	198	Q9BVC6	TM109_HUMAN	V	198;120;198	.	ENSP00000227525:L198V	L	+	1	2	TMEM109	60446073	0.007000	0.16637	0.996000	0.52242	0.962000	0.63368	-1.096000	0.03353	-0.317000	0.08677	-0.302000	0.09304	CTG		0.682	TMEM109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396343.1	NM_024092		G	60689497	C	G	60689497	3	3	796	1	0	0	0	0	1	0	0	0	16030	680	24	4	602	4	TMEM109	11	60689497	Missense_Mutation	SNP	C	TCGA-SX-A7SU-01A-11D-A35Z-10	4799558	60689497	74317019	27	47484											
MOGAT2	80168	hgsc.bcm.edu	37	11	75428970	75428970	+	Missense_Mutation	SNP	C	C	T			TCGA-SX-A7SU-01A-11D-A35Z-10	TCGA-SX-A7SU-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	06de0d9e-db97-4250-a774-fa0f4eabbe74	7d1da0d0-0c30-4440-b607-036215cc6509	g.chr11:75428970C>T	ENST00000198801.5	+	1	107	c.37C>T	c.(37-39)Cgc>Tgc	p.R13C	MOGAT2_ENST00000526712.1_5'Flank	NM_025098.2	NP_079374.2	Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	13					diacylglycerol biosynthetic process (GO:0006651)|glycerol metabolic process (GO:0006071)|intestinal absorption (GO:0050892)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|acetyltransferase activity (GO:0016407)			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					GCCGTGGGAGCGCAGGCTGCA	0.597																																																0													131	88	103					11																	75428970		2200	4293	6493	SO:0001583	missense	80168			AY157608	CCDS8240.1	11q13.5	2008-02-05			ENSG00000166391	ENSG00000166391			23248	protein-coding gene	gene with protein product		610270				14970677	Standard	NM_025098		Approved	MGAT2, DGAT2L5, FLJ22644	uc010rru.2	Q3SYC2	OTTHUMG00000165341	ENST00000198801.5:c.37C>T	chr11.hg19:g.75428970C>T	ENSP00000198801:p.Arg13Cys		A8K7I3|Q3SYC1|Q6ZQZ2|Q86UH6|Q9H630	Missense_Mutation	SNP	ENST00000198801.5	hg19	CCDS8240.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.847489	0.51164	.	.	ENSG00000166391	ENST00000198801	T	0.48522	0.81	4.87	4.87	0.63330	.	0.120026	0.53938	N	0.000043	T	0.54870	0.1885	M	0.91768	3.24	0.80722	D	1	P;D	0.53745	0.579;0.962	B;B	0.40602	0.22;0.334	T	0.68375	-0.5425	10	0.72032	D	0.01	2.0293	11.0357	0.47799	0.1859:0.8141:0.0:0.0	.	13;13	Q3SYC2;Q3SYC2-3	MOGT2_HUMAN;.	C	13	ENSP00000198801:R13C	ENSP00000198801:R13C	R	+	1	0	MOGAT2	75106618	0.994000	0.37717	1.000000	0.80357	0.907000	0.53573	1.299000	0.33424	2.390000	0.81377	0.557000	0.71058	CGC		0.597	MOGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383520.1	NM_025098		T	75428970	C	T	75428970	3	4	796	1	0	0	0	0	1	0	0	0	9697	768	27	1	39	1	MOGAT2	11	75428970	Missense_Mutation	SNP	C	TCGA-SX-A7SU-01A-11D-A35Z-10	14739473	75428970	59577546	28	47485											
KATNAL1	84056	hgsc.bcm.edu	37	13	30814596	30814596	+	Splice_Site	SNP	C	C	A			TCGA-SX-A7SU-01A-11D-A35Z-10	TCGA-SX-A7SU-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	06de0d9e-db97-4250-a774-fa0f4eabbe74	7d1da0d0-0c30-4440-b607-036215cc6509	g.chr13:30814596C>A	ENST00000380615.3	-	6	894		c.e6+1		KATNAL1_ENST00000380617.3_Splice_Site	NM_032116.4	NP_115492.1			katanin p60 subunit A-like 1											autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3)	19		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		TAAATTCTCACCTTCCATGGC	0.378																																																0													96	91	93					13																	30814596		2203	4300	6503	SO:0001630	splice_region_variant	84056			AK097423	CCDS31956.1	13q12.3	2010-04-21			ENSG00000102781	ENSG00000102781		"ATPases / AAA-type"	28361	protein-coding gene	gene with protein product		614764				12477932	Standard	NM_001014380		Approved	MGC2599	uc001uss.4	Q9BW62	OTTHUMG00000016665	ENST00000380615.3:c.726+1G>T	chr13.hg19:g.30814596C>A				Splice_Site	SNP	ENST00000380615.3	hg19	CCDS31956.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.046053	0.75846	.	.	ENSG00000102781	ENST00000380615;ENST00000380617	.	.	.	4.69	4.69	0.59074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1853	0.89791	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KATNAL1	29712596	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	7.818000	0.86416	2.597000	0.87782	0.655000	0.94253	.		0.378	KATNAL1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044346.2	NM_032116	Intron	A	30814596	C	A	30814596	5	1	796	1	0	0	0	0	0	0	1	0	7987	521	18	4	769	4	KATNAL1	13	30814596	Splice_Site	SNP	C	TCGA-SX-A7SU-01A-11D-A35Z-10		30814596	84355282	29	47486											
ANPEP	290	hgsc.bcm.edu	37	15	90340880	90340880	+	Missense_Mutation	SNP	A	A	G			TCGA-SX-A7SU-01A-11D-A35Z-10	TCGA-SX-A7SU-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	06de0d9e-db97-4250-a774-fa0f4eabbe74	7d1da0d0-0c30-4440-b607-036215cc6509	g.chr15:90340880A>G	ENST00000300060.6	-	15	2396	c.2083T>C	c.(2083-2085)Tgg>Cgg	p.W695R	ANPEP_ENST00000558177.1_5'UTR	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	695	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)	GCGGCCTCCCAGGGCATGTAC	0.557																																					NSCLC(30;827 977 2459 19669 26125)											0													135	127	130					15																	90340880		2200	4299	6499	SO:0001583	missense	290			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.2083T>C	chr15.hg19:g.90340880A>G	ENSP00000300060:p.Trp695Arg		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Missense_Mutation	SNP	ENST00000300060.6	hg19	CCDS10356.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.656308	0.88056	.	.	ENSG00000166825	ENST00000300060	T	0.07800	3.16	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.44052	0.1275	H	0.97806	4.08	0.80722	D	1	D	0.69078	0.997	D	0.66716	0.946	T	0.65018	-0.6270	10	0.87932	D	0	.	14.6536	0.68817	1.0:0.0:0.0:0.0	.	695	P15144	AMPN_HUMAN	R	695	ENSP00000300060:W695R	ENSP00000300060:W695R	W	-	1	0	ANPEP	88141884	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.142000	0.94618	2.202000	0.70862	0.533000	0.62120	TGG		0.557	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1			G	90340880	A	G	90340880	3	3	796	1	0	0	0	0	1	0	0	0	710	188	7	3	848	3	ANPEP	15	90340880	Missense_Mutation	SNP	A	TCGA-SX-A7SU-01A-11D-A35Z-10		90340880	12190512	30	47487											
ANPEP	290	hgsc.bcm.edu	37	15	90349683	90349683	+	Silent	SNP	G	G	A			TCGA-SX-A7SU-01A-11D-A35Z-10	TCGA-SX-A7SU-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	06de0d9e-db97-4250-a774-fa0f4eabbe74	7d1da0d0-0c30-4440-b607-036215cc6509	g.chr15:90349683G>A	ENST00000300060.6	-	2	445	c.132C>T	c.(130-132)tcC>tcT	p.S44S		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	44	Cytosolic Ser/Thr-rich junction.				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)	AGGCCACGGGGGAGCTGTTGG	0.632																																					NSCLC(30;827 977 2459 19669 26125)											0													116	122	120					15																	90349683		2200	4299	6499	SO:0001819	synonymous_variant	290			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.132C>T	chr15.hg19:g.90349683G>A			Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Silent	SNP	ENST00000300060.6	hg19	CCDS10356.1																																																																																				0.632	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1			A	90349683	G	A	90349683	2	1	796	1	0	0	0	0	0	0	0	1	710	1219	43	2		2	ANPEP	15	90349683	Silent	SNP	G	TCGA-SX-A7SU-01A-11D-A35Z-10	8803	90349683	12181709	31	47488											
NFAT5	10725	hgsc.bcm.edu	37	16	69687291	69687291	+	Nonsense_Mutation	SNP	C	C	G			TCGA-SX-A7SU-01A-11D-A35Z-10	TCGA-SX-A7SU-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	06de0d9e-db97-4250-a774-fa0f4eabbe74	7d1da0d0-0c30-4440-b607-036215cc6509	g.chr16:69687291C>G	ENST00000354436.2	+	4	1229	c.911C>G	c.(910-912)tCa>tGa	p.S304*	NFAT5_ENST00000432919.1_Nonsense_Mutation_p.S322*|NFAT5_ENST00000567239.1_Nonsense_Mutation_p.S322*|NFAT5_ENST00000393742.2_Nonsense_Mutation_p.S228*|NFAT5_ENST00000349945.1_Nonsense_Mutation_p.S228*|NFAT5_ENST00000566899.1_Nonsense_Mutation_p.S228*	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	304	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				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						AGCCGTGGCTCAGTGAAAGAT	0.408																																																0													88	85	86					16																	69687291		2198	4300	6498	SO:0001587	stop_gained	10725			AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"Nuclear factor of activated T-cells"	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.911C>G	chr16.hg19:g.69687291C>G	ENSP00000346420:p.Ser304*		A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Nonsense_Mutation	SNP	ENST00000354436.2	hg19	CCDS10881.1	.	.	.	.	.	.	.	.	.	.	C	40	8.432947	0.98808	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	.	.	.	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-2.4058	18.6222	0.91324	0.0:1.0:0.0:0.0	.	.	.	.	X	322;322;228;304;228	.	ENSP00000338806:S228X	S	+	2	0	NFAT5	68244792	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.712000	0.84684	2.473000	0.83533	0.460000	0.39030	TCA		0.408	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		G	69687291	C	G	69687291	4	3	796	1	0	0	0	0	0	1	0	0	10362	838	29	4	983	4	NFAT5	16	69687291	Nonsense_Mutation	SNP	C	TCGA-SX-A7SU-01A-11D-A35Z-10		69687291	20667462	32	47489											
SYNRG	11276	hgsc.bcm.edu	37	17	35944776	35944776	+	Missense_Mutation	SNP	G	G	A			TCGA-SX-A7SU-01A-11D-A35Z-10	TCGA-SX-A7SU-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	06de0d9e-db97-4250-a774-fa0f4eabbe74	7d1da0d0-0c30-4440-b607-036215cc6509	g.chr17:35944776G>A	ENST00000339208.6	-	6	709	c.569C>T	c.(568-570)gCa>gTa	p.A190V	SYNRG_ENST00000502449.2_Missense_Mutation_p.A190V|SYNRG_ENST00000346661.4_Missense_Mutation_p.A190V|SYNRG_ENST00000394378.2_Missense_Mutation_p.A190V|SYNRG_ENST00000345615.4_Missense_Mutation_p.A190V|SYNRG_ENST00000591288.1_Missense_Mutation_p.A190V|SYNRG_ENST00000585472.1_Missense_Mutation_p.A189V	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	190					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						GGGGTGCGATGCTGGAGTAGG	0.403																																																0													153	153	153					17																	35944776		2203	4300	6503	SO:0001583	missense	11276			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.569C>T	chr17.hg19:g.35944776G>A	ENSP00000343610:p.Ala190Val		A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Missense_Mutation	SNP	ENST00000339208.6	hg19	CCDS11321.1	.	.	.	.	.	.	.	.	.	.	G	19.17	3.775527	0.70107	.	.	ENSG00000006114	ENST00000346661;ENST00000339208;ENST00000345615;ENST00000502449;ENST00000394378;ENST00000394379	T;T;T;T;T	0.48201	1.34;1.34;0.83;0.83;0.82	5.43	4.45	0.53987	.	0.244651	0.42172	D	0.000746	T	0.39462	0.1079	L	0.45581	1.43	0.38111	D	0.937568	P;B;B;B;B;P;P	0.43578	0.811;0.018;0.018;0.018;0.018;0.763;0.763	B;B;B;B;B;B;B	0.40534	0.332;0.016;0.016;0.016;0.016;0.229;0.311	T	0.32561	-0.9902	10	0.29301	T	0.29	-12.9037	10.8313	0.46663	0.146:0.0:0.854:0.0	.	190;190;190;190;190;190;190	A8MYE0;B7ZKZ2;Q9UMZ2-3;A8MWU4;Q9UMZ2-4;Q9UMZ2-5;Q9UMZ2	.;.;.;.;.;.;SYNRG_HUMAN	V	190	ENSP00000005279:A190V;ENSP00000343610:A190V;ENSP00000315722:A190V;ENSP00000424893:A190V;ENSP00000377903:A190V	ENSP00000343610:A190V	A	-	2	0	SYNRG	33018889	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	3.080000	0.50112	2.548000	0.85928	0.555000	0.69702	GCA		0.403	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	NM_007247		A	35944776	G	A	35944776	3	1	796	1	0	0	0	0	1	0	0	0	15465	1319	46	2	3516	2	SYNRG	17	35944776	Missense_Mutation	SNP	G	TCGA-SX-A7SU-01A-11D-A35Z-10		35944776	45250434	33	47490											
KRTAP9-3	83900	hgsc.bcm.edu	37	17	39388890	39388890	+	Missense_Mutation	SNP	G	G	A			TCGA-SX-A7SU-01A-11D-A35Z-10	TCGA-SX-A7SU-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	06de0d9e-db97-4250-a774-fa0f4eabbe74	7d1da0d0-0c30-4440-b607-036215cc6509	g.chr17:39388890G>A	ENST00000411528.2	+	1	176	c.137G>A	c.(136-138)tGc>tAc	p.C46Y		NM_031962.2	NP_114168.1	Q9BYQ3	KRA93_HUMAN	keratin associated protein 9-3	46	16 X 5 AA repeats of C-C-[RQVSHE]-[SPTN]- [TASPI].					keratin filament (GO:0045095)				breast(1)|endometrium(3)|lung(2)|ovary(1)|prostate(1)	8		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			TGCCAGCCTTGCTGCCACCCA	0.622																																																0													61	63	62					17																	39388890		2099	4296	6395	SO:0001583	missense	83900			AJ406947	CCDS11385.1	17q21.2	2013-06-25			ENSG00000204873	ENSG00000204873		"Keratin associated proteins"	16927	protein-coding gene	gene with protein product						11279113	Standard	NM_031962		Approved	KAP9.3	uc021txg.1	Q9BYQ3	OTTHUMG00000133427	ENST00000411528.2:c.137G>A	chr17.hg19:g.39388890G>A	ENSP00000392189:p.Cys46Tyr			Missense_Mutation	SNP	ENST00000411528.2	hg19	CCDS11385.1	.	.	.	.	.	.	.	.	.	.	.	13.26	2.183006	0.38511	.	.	ENSG00000204873	ENST00000411528	T	0.01647	4.71	2.45	2.45	0.29901	.	.	.	.	.	T	0.07188	0.0182	M	0.87682	2.9	0.37889	D	0.930631	.	.	.	.	.	.	T	0.01930	-1.1245	7	0.87932	D	0	.	5.2525	0.15529	0.1612:0.0:0.8388:0.0	.	.	.	.	Y	46	ENSP00000392189:C46Y	ENSP00000392189:C46Y	C	+	2	0	KRTAP9-3	36642416	0.005000	0.15991	0.997000	0.53966	0.496000	0.33645	-0.284000	0.08422	1.700000	0.51204	0.400000	0.26472	TGC		0.622	KRTAP9-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257290.1			A	39388890	G	A	39388890	3	1	796	1	0	0	0	0	1	0	0	0	8576	1319	46	2	139	2	KRTAP9-3	17	39388890	Missense_Mutation	SNP	G	TCGA-SX-A7SU-01A-11D-A35Z-10	3444114	39388890	41806320	34	47491											
KATNAL2	83473	hgsc.bcm.edu	37	18	44625645	44625646	+	In_Frame_Ins	INS	-	-	AGA			TCGA-SX-A7SU-01A-11D-A35Z-10	TCGA-SX-A7SU-10A-01D-A35Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	06de0d9e-db97-4250-a774-fa0f4eabbe74	7d1da0d0-0c30-4440-b607-036215cc6509	g.chr18:44625645_44625646insAGA	ENST00000245121.5	+	13	1221_1222	c.1027_1028insAGA	c.(1027-1029)gag>gAGAag	p.344_345insK	KATNAL2_ENST00000356157.7_In_Frame_Ins_p.416_417insK	NM_031303.2	NP_112593.2			katanin p60 subunit A-like 2											central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						ACGCCGCCTGGAGAAGAGGATT	0.569																																																0																																										SO:0001652	inframe_insertion	83473			BC034999	CCDS32828.1	18q21.1	2010-04-21			ENSG00000167216	ENSG00000167216		"ATPases / AAA-type"	25387	protein-coding gene	gene with protein product		614697				12477932	Standard	NM_031303		Approved	MGC33211, DKFZP667C165	uc002lco.3	Q8IYT4		ENST00000245121.5:c.1031_1033dupAGA	chr18.hg19:g.44625649_44625651dupAGA	ENSP00000245121:p.Lys344_Lys344dup			In_Frame_Ins	INS	ENST00000245121.5	hg19	CCDS32828.1																																																																																				0.569	KATNAL2-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446138.2	NM_031303		AGA	44625646	-	AGA	44625645	7	5	796	1	0	1	1	0	0	0	0	0	7988	1175	41	0	1073	0	KATNAL2	18	44625645	In_Frame_Ins	INS	-	TCGA-SX-A7SU-01A-11D-A35Z-10		44625645	33451603	35	47492											
ABCA7	10347	hgsc.bcm.edu	37	19	1056069	1056069	+	Missense_Mutation	SNP	G	G	A	rs374185879		TCGA-SX-A7SU-01A-11D-A35Z-10	TCGA-SX-A7SU-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	06de0d9e-db97-4250-a774-fa0f4eabbe74	7d1da0d0-0c30-4440-b607-036215cc6509	g.chr19:1056069G>A	ENST00000263094.6	+	32	4474	c.4243G>A	c.(4243-4245)Gga>Aga	p.G1415R	ABCA7_ENST00000433129.1_Missense_Mutation_p.G1415R|ABCA7_ENST00000435683.2_Missense_Mutation_p.G1277R	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1415					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)		CCACAGATACGGAGGCTTCTC	0.716																																																0								G	ARG/GLY	1,4403	2.1+/-5.4	0,1,2201	25	30	29		4243	2.8	1	19		29	0,8594		0,0,4297	no	missense	ABCA7	NM_019112.3	125	0,1,6498	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	1415/2147	1056069	1,12997	2202	4297	6499	SO:0001583	missense	10347			AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"ATP binding cassette transporters / subfamily A"	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.4243G>A	chr19.hg19:g.1056069G>A	ENSP00000263094:p.Gly1415Arg		Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	hg19	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.474727	0.43942	2.27E-4	0.0	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.97688	-4.49;-4.49	2.75	2.75	0.32379	.	.	.	.	.	D	0.98381	0.9462	M	0.83312	2.635	0.39760	D	0.972017	D	0.89917	1.0	D	0.73708	0.981	D	0.98917	1.0782	9	0.87932	D	0	.	11.1665	0.48545	0.0:0.0:1.0:0.0	.	1415	Q8IZY2	ABCA7_HUMAN	R	1415	ENSP00000263094:G1415R;ENSP00000414062:G1415R	ENSP00000263094:G1415R	G	+	1	0	ABCA7	1007069	0.980000	0.34600	0.957000	0.39632	0.040000	0.13550	1.241000	0.32743	1.859000	0.53934	0.561000	0.74099	GGA		0.716	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		A	1056069	G	A	1056069	3	1	796	1	0	0	0	0	1	0	0	0	37	1117	39	1	4365	1	ABCA7	19	1056069	Missense_Mutation	SNP	G	TCGA-SX-A7SU-01A-11D-A35Z-10		1056069	58072914	36	47493											
PRKCSH	5589	hgsc.bcm.edu	37	19	11558370	11558370	+	Silent	SNP	G	G	A	rs77563879		TCGA-SX-A7SU-01A-11D-A35Z-10	TCGA-SX-A7SU-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	06de0d9e-db97-4250-a774-fa0f4eabbe74	7d1da0d0-0c30-4440-b607-036215cc6509	g.chr19:11558370G>A	ENST00000589838.1	+	10	966	c.966G>A	c.(964-966)gaG>gaA	p.E322E	PRKCSH_ENST00000587327.1_Silent_p.E322E|PRKCSH_ENST00000412601.1_Silent_p.E322E|PRKCSH_ENST00000592741.1_Silent_p.E322E|PRKCSH_ENST00000591462.1_Silent_p.E322E|PRKCSH_ENST00000252455.2_Silent_p.E322E			P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	322	Glu-rich (acidic).				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)	p.E321_E322delEE(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						aggaggaggaggaagaagagg	0.632																																																1	Deletion - In frame(1)	central_nervous_system(1)											27	27	27					19																	11558370		2200	4298	6498	SO:0001819	synonymous_variant	5589				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.966G>A	chr19.hg19:g.11558370G>A			A8K318|Q96BU9|Q96D06|Q9P0W9	Silent	SNP	ENST00000589838.1	hg19	CCDS32911.1																																																																																				0.632	PRKCSH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458817.1			A	11558370	G	A	11558370	2	1	796	1	0	0	0	0	0	0	0	1	12521	991	35	2		2	PRKCSH	19	11558370	Silent	SNP	G	TCGA-SX-A7SU-01A-11D-A35Z-10	10502301	11558370	47570613	37	47494											
PEPD	5184	hgsc.bcm.edu	37	19	33902620	33902621	+	In_Frame_Ins	INS	-	-	CGTGTC	rs370370158		TCGA-SX-A7SU-01A-11D-A35Z-10	TCGA-SX-A7SU-10A-01D-A35Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	06de0d9e-db97-4250-a774-fa0f4eabbe74	7d1da0d0-0c30-4440-b607-036215cc6509	g.chr19:33902620_33902621insCGTGTC	ENST00000244137.7	-	11	808_809	c.775_776insGACACG	c.(775-777)gcc>gGACACGcc	p.258_259insGH	PEPD_ENST00000436370.3_In_Frame_Ins_p.194_195insGH|PEPD_ENST00000397032.4_In_Frame_Ins_p.217_218insGH	NM_000285.3	NP_000276.2	P12955	PEPD_HUMAN	peptidase D	258					cellular amino acid metabolic process (GO:0006520)|collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)	aminopeptidase activity (GO:0004177)|dipeptidase activity (GO:0016805)|manganese ion binding (GO:0030145)|metallocarboxypeptidase activity (GO:0004181)			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	17	Esophageal squamous(110;0.137)					GGGAGCTCCGGCGTGTCCGTAG	0.599																																																0																																										SO:0001652	inframe_insertion	5184			BC015027	CCDS42544.1, CCDS54244.1, CCDS54245.1	19q13.11	2008-02-05				ENSG00000124299	3.4.13.9		8840	protein-coding gene	gene with protein product	"prolidase"	613230				2925654, 1972707	Standard	NM_000285		Approved		uc002nur.4	P12955		ENST00000244137.7:c.770_775dupGACACG	chr19.hg19:g.33902621_33902626dupCGTGTC	ENSP00000244137:p.Gly257_His258dup		A8K3Z1|A8K416|A8K696|A8MX47|B4DDB7|B4DGJ1|E9PCE8|Q8TBN9|Q9BT75	In_Frame_Ins	INS	ENST00000244137.7	hg19	CCDS42544.1																																																																																				0.599	PEPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451432.3	NM_000285		CGTGTC	33902621	-	CGTGTC	33902620	7	5	796	1	0	1	1	0	0	0	0	0	11730	1203	42	0	725	0	PEPD	19	33902620	In_Frame_Ins	INS	-	TCGA-SX-A7SU-01A-11D-A35Z-10	22344250	33902620	25226363	38	47495											
NCCRP1	342897	hgsc.bcm.edu	37	19	39687821	39687821	+	Missense_Mutation	SNP	G	G	A			TCGA-SX-A7SU-01A-11D-A35Z-10	TCGA-SX-A7SU-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	06de0d9e-db97-4250-a774-fa0f4eabbe74	7d1da0d0-0c30-4440-b607-036215cc6509	g.chr19:39687821G>A	ENST00000339852.4	+	1	221	c.199G>A	c.(199-201)Gct>Act	p.A67T		NM_001001414.1	NP_001001414.1	Q6ZVX7	FBX50_HUMAN	non-specific cytotoxic cell receptor protein 1 homolog (zebrafish)	67					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						GCCGTCCGAGGCTCACGCCCG	0.786																																					Melanoma(107;1207 1556 14956 29427 52130)											0													1	1	1					19																	39687821		934	2129	3063	SO:0001583	missense	342897			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.199G>A	chr19.hg19:g.39687821G>A	ENSP00000342137:p.Ala67Thr		Q6NVV5	Missense_Mutation	SNP	ENST00000339852.4	hg19	CCDS12529.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.558257	0.65538	.	.	ENSG00000188505	ENST00000339852	T	0.33865	1.39	3.41	0.908	0.19326	.	0.556062	0.14784	U	0.298637	T	0.18841	0.0452	N	0.19112	0.55	0.09310	N	1	B	0.23058	0.079	B	0.17098	0.017	T	0.14755	-1.0461	10	0.30854	T	0.27	.	5.1669	0.15090	0.0:0.2537:0.5253:0.221	.	67	Q6ZVX7	NCRP1_HUMAN	T	67	ENSP00000342137:A67T	ENSP00000342137:A67T	A	+	1	0	NCCRP1	44379661	0.862000	0.29867	0.118000	0.21660	0.202000	0.24057	0.983000	0.29552	0.606000	0.29965	0.313000	0.20887	GCT		0.786	NCCRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463829.1	NM_001001414		A	39687821	G	A	39687821	3	1	796	1	0	0	0	0	1	0	0	0	10215	1203	42	2	201	2	NCCRP1	19	39687821	Missense_Mutation	SNP	G	TCGA-SX-A7SU-01A-11D-A35Z-10	5785201	39687821	19441162	39	47496											
KCNB1	3745	hgsc.bcm.edu	37	20	48098450	48098450	+	Splice_Site	DEL	C	C	-			TCGA-SX-A7SU-01A-11D-A35Z-10	TCGA-SX-A7SU-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	06de0d9e-db97-4250-a774-fa0f4eabbe74	7d1da0d0-0c30-4440-b607-036215cc6509	g.chr20:48098450delC	ENST00000371741.4	-	1	734		c.e1+1			NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1						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)	CCCAGACTCACCTTGGCAGCC	0.567																																																0													118	108	111					20																	48098450		2203	4300	6503	SO:0001630	splice_region_variant	3745			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.567+1G>-	chr20.hg19:g.48098450delC			Q14193	Splice_Site	DEL	ENST00000371741.4	hg19	CCDS13418.1																																																																																				0.567	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975	Intron	-	48098450	C	-	48098450	8	5	796	1	0	1	0	1	0	0	1	0	8014	521	18	0	2016	0	KCNB1	20	48098450	Splice_Site	DEL	C	TCGA-SX-A7SU-01A-11D-A35Z-10		48098450	14927070	40	47497											
MTMR3	8897	hgsc.bcm.edu	37	22	30416092	30416092	+	Missense_Mutation	SNP	A	A	G			TCGA-SX-A7SU-01A-11D-A35Z-10	TCGA-SX-A7SU-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	06de0d9e-db97-4250-a774-fa0f4eabbe74	7d1da0d0-0c30-4440-b607-036215cc6509	g.chr22:30416092A>G	ENST00000401950.2	+	17	2786	c.2444A>G	c.(2443-2445)gAt>gGt	p.D815G	CTA-85E5.10_ENST00000453743.2_RNA|MTMR3_ENST00000351488.3_Missense_Mutation_p.D815G|MTMR3_ENST00000406629.1_Missense_Mutation_p.D815G|MTMR3_ENST00000323630.5_Missense_Mutation_p.D679G|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000333027.3_Missense_Mutation_p.D815G	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	815					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			ATCCCAGTAGATGCAAAAGTT	0.517																																																0													124	113	117					22																	30416092		2203	4300	6503	SO:0001583	missense	8897			U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"Zinc fingers, FYVE domain containing", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.2444A>G	chr22.hg19:g.30416092A>G	ENSP00000384651:p.Asp815Gly		A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Missense_Mutation	SNP	ENST00000401950.2	hg19	CCDS13870.1	.	.	.	.	.	.	.	.	.	.	A	3.772	-0.047509	0.07407	.	.	ENSG00000100330	ENST00000401950;ENST00000333027;ENST00000323630;ENST00000351488;ENST00000406629	D;D;D;D;D	0.93426	-3.03;-3.0;-3.22;-3.05;-3.0	4.88	3.84	0.44239	.	1.378970	0.04300	N	0.347180	D	0.87022	0.6074	N	0.19112	0.55	0.09310	N	1	P;P;P	0.41848	0.763;0.651;0.763	B;B;B	0.35770	0.21;0.104;0.21	T	0.77811	-0.2449	10	0.23302	T	0.38	.	8.6349	0.33941	0.9129:0.0:0.0871:0.0	.	815;815;815	Q13615-3;Q13615;Q13615-2	.;MTMR3_HUMAN;.	G	815;815;679;815;815	ENSP00000384651:D815G;ENSP00000331649:D815G;ENSP00000318070:D679G;ENSP00000307271:D815G;ENSP00000384077:D815G	ENSP00000318070:D679G	D	+	2	0	MTMR3	28746092	0.032000	0.19561	0.168000	0.22838	0.187000	0.23431	1.914000	0.39966	0.987000	0.38709	0.533000	0.62120	GAT		0.517	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1	NM_021090		G	30416092	A	G	30416092	3	3	796	1	0	0	0	0	1	0	0	0	9947	333	12	3	2502	3	MTMR3	22	30416092	Missense_Mutation	SNP	A	TCGA-SX-A7SU-01A-11D-A35Z-10		30416092	20888474	41	47498											
CDC14A	8556	hgsc.bcm.edu	37	1	100856289	100856289	+	Splice_Site	SNP	C	C	T			TCGA-UN-AAZ9-01A-11D-A382-10	TCGA-UN-AAZ9-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c956b4f3-cd21-4ff0-8b37-32cd8da4ea6a	5295faa5-5eb5-4e32-abfe-7c9e1d725be6	g.chr1:100856289C>T	ENST00000336454.3	+	4	573	c.218C>T	c.(217-219)tCa>tTa	p.S73L	CDC14A_ENST00000544534.1_Splice_Site_p.S73L|CDC14A_ENST00000370125.2_Splice_Site_p.S73L|CDC14A_ENST00000542213.1_Splice_Site_p.S15L|CDC14A_ENST00000370124.3_Splice_Site_p.S73L|CDC14A_ENST00000361544.6_Splice_Site_p.S73L	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	73	A.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		TCTTTCTAGTCATACAGTTTG	0.368																																																0													102	97	99					1																	100856289		2203	4300	6503	SO:0001630	splice_region_variant	8556			AF000367	CCDS769.1, CCDS770.1, CCDS771.1	1p21	2013-01-17	2013-01-17		ENSG00000079335	ENSG00000079335		"Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"	1718	protein-coding gene	gene with protein product		603504	"CDC10 (cell division cycle 10, S. cerevisiae, homolog)", "CDC14 cell division cycle 14 homolog A (S. cerevisiae)"			9367992, 10409437	Standard	NM_033312		Approved	Cdc14A1, Cdc14A2, cdc14	uc001dtf.2	Q9UNH5	OTTHUMG00000010987	ENST00000336454.3:c.217-1C>T	chr1.hg19:g.100856289C>T			A6MA65|B1AQ14|B1AQ15|O43171|O60727|O60728|Q52LH9|Q8IXX0	Missense_Mutation	SNP	ENST00000336454.3	hg19	CCDS769.1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.648522	0.67358	.	.	ENSG00000079335	ENST00000542213;ENST00000455467;ENST00000370125;ENST00000361544;ENST00000370124;ENST00000336454;ENST00000544534	T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88	5.62	5.62	0.85841	.	0.061993	0.64402	D	0.000002	T	0.32793	0.0841	M	0.67700	2.07	0.80722	D	1	P;P;B;P;P;B	0.42483	0.781;0.674;0.01;0.479;0.781;0.006	B;B;B;B;B;B	0.35655	0.207;0.102;0.022;0.061;0.207;0.01	T	0.42582	-0.9443	10	0.72032	D	0.01	-12.363	18.4311	0.90625	0.0:1.0:0.0:0.0	.	15;73;73;73;73;73	F5H7B3;A6MA65;Q9UNH5-3;Q9UNH5;Q9UNH5-2;Q52LH9	.;.;.;CC14A_HUMAN;.;.	L	15;74;73;73;73;73;73	ENSP00000442640:S15L;ENSP00000388501:S74L;ENSP00000359143:S73L;ENSP00000354916:S73L;ENSP00000359142:S73L;ENSP00000336739:S73L;ENSP00000442543:S73L	ENSP00000336739:S73L	S	+	2	0	CDC14A	100628877	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	4.880000	0.63107	2.648000	0.89879	0.561000	0.74099	TCA		0.368	CDC14A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000030220.1	NM_033312	Missense_Mutation	T	100856289	C	T	100856289	5	4	797	1	0	0	0	0	0	0	1	0	3058	840	29	2	232	2	CDC14A	1	100856289	Splice_Site	SNP	C	TCGA-UN-AAZ9-01A-11D-A382-10		100856289	148394332	1	47499											
CENPF	1063	hgsc.bcm.edu	37	1	214819565	214819565	+	Frame_Shift_Del	DEL	C	C	-			TCGA-UN-AAZ9-01A-11D-A382-10	TCGA-UN-AAZ9-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c956b4f3-cd21-4ff0-8b37-32cd8da4ea6a	5295faa5-5eb5-4e32-abfe-7c9e1d725be6	g.chr1:214819565delC	ENST00000366955.3	+	13	6820	c.6652delC	c.(6652-6654)caafs	p.Q2218fs		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2314	2 X 177 AA tandem repeats.|Interaction with NDE1 and NDEL1.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TCTGACAAAACAAATACAAGA	0.348																																					Colon(80;575 1284 11000 14801 43496)											0													45	51	49					1																	214819565		2198	4300	6498	SO:0001589	frameshift_variant	1063			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"mitosin"	600236	"centromere protein F, 350/400kDa (mitosin)"			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.6652delC	chr1.hg19:g.214819565delC	ENSP00000355922:p.Gln2218fs		Q13171|Q13246|Q5VVM7	Frame_Shift_Del	DEL	ENST00000366955.3	hg19	CCDS31023.1																																																																																				0.348	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		-	214819565	C	-	214819565	7	5	797	1	0	1	0	1	0	0	0	0	3233	479	17	0	6698	0	CENPF	1	214819565	Frame_Shift_Del	DEL	C	TCGA-UN-AAZ9-01A-11D-A382-10	113963276	214819565	34431056	2	47500											
TTN	7273	hgsc.bcm.edu	37	2	179505994	179505999	+	In_Frame_Del	DEL	TTTTTA	TTTTTA	-			TCGA-UN-AAZ9-01A-11D-A382-10	TCGA-UN-AAZ9-10A-01D-A385-10	TTTTTA	TTTTTA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c956b4f3-cd21-4ff0-8b37-32cd8da4ea6a	5295faa5-5eb5-4e32-abfe-7c9e1d725be6	g.chr2:179505994_179505999delTTTTTA	ENST00000591111.1	-	170	35903_35908	c.35679_35684delTAAAAA	c.(35677-35685)cctaaaaaa>cca	p.KK11894del	TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_In_Frame_Del_p.KK10967del|TTN-AS1_ENST00000418062.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_In_Frame_Del_p.KK4662del|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_In_Frame_Del_p.KK13535del|TTN_ENST00000359218.5_In_Frame_Del_p.KK4595del|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_In_Frame_Del_p.KK4470del|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	11894	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)			TTTTTCTAGTTTTTTAGGTTCTACTT	0.282																																																0																																										SO:0001651	inframe_deletion	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.35679_35684delTAAAAA	chr2.hg19:g.179505994_179505999delTTTTTA	ENSP00000465570:p.Lys11894_Lys11895del		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	In_Frame_Del	DEL	ENST00000591111.1	hg19																																																																																					0.282	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		-	179505999	TTTTTA	-	179505994	7	5	797	1	0	1	0	1	0	0	0	0	16740	1841	64	0	67658	0	TTN	2	179505994	In_Frame_Del	DEL	TTTTTA	TCGA-UN-AAZ9-01A-11D-A382-10		179505994	63693379	3	47501											
TRH	7200	hgsc.bcm.edu	37	3	129695840	129695840	+	Silent	SNP	G	G	A			TCGA-UN-AAZ9-01A-11D-A382-10	TCGA-UN-AAZ9-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c956b4f3-cd21-4ff0-8b37-32cd8da4ea6a	5295faa5-5eb5-4e32-abfe-7c9e1d725be6	g.chr3:129695840G>A	ENST00000302649.3	+	3	1037	c.510G>A	c.(508-510)gaG>gaA	p.E170E	TRH_ENST00000507066.1_Silent_p.E166E	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	170					adult walking behavior (GO:0007628)|cell-cell signaling (GO:0007267)|eating behavior (GO:0042755)|histamine metabolic process (GO:0001692)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of feeding behavior (GO:2000252)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of insulin secretion (GO:0032024)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	thyrotropin-releasing hormone activity (GO:0008437)	p.E170E(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						Gggaagaagaggaggaggagg	0.642																																					Esophageal Squamous(60;321 1330 17401 41911)											1	Substitution - coding silent(1)	prostate(1)											33	35	34					3																	129695840		2202	4300	6502	SO:0001819	synonymous_variant	7200				CCDS3066.1	3q13.3-q21	2013-02-28				ENSG00000170893		"Endogenous ligands"	12298	protein-coding gene	gene with protein product	"prothyroliberin"	613879				2126343, 1900134	Standard	NM_007117		Approved		uc003enc.4	P20396		ENST00000302649.3:c.510G>A	chr3.hg19:g.129695840G>A			B2R8R1|Q2TB83	Silent	SNP	ENST00000302649.3	hg19	CCDS3066.1																																																																																				0.642	TRH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356592.1	NM_007117		A	129695840	G	A	129695840	2	1	797	1	0	0	0	0	0	0	0	1	16483	991	35	2		2	TRH	3	129695840	Silent	SNP	G	TCGA-UN-AAZ9-01A-11D-A382-10		129695840	68326590	4	47502											
SLC7A14	57709	hgsc.bcm.edu	37	3	170244698	170244698	+	Missense_Mutation	SNP	G	G	T			TCGA-UN-AAZ9-01A-11D-A382-10	TCGA-UN-AAZ9-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c956b4f3-cd21-4ff0-8b37-32cd8da4ea6a	5295faa5-5eb5-4e32-abfe-7c9e1d725be6	g.chr3:170244698G>T	ENST00000231706.5	-	2	343	c.28C>A	c.(28-30)Ccc>Acc	p.P10T	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	10					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)			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)			ACCCGCCGGGGGTCCAGCGAG	0.582																																																0													41	39	39					3																	170244698		2203	4300	6503	SO:0001583	missense	57709			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.28C>A	chr3.hg19:g.170244698G>T	ENSP00000231706:p.Pro10Thr		B3KV33|Q9HCF9	Missense_Mutation	SNP	ENST00000231706.5	hg19	CCDS33892.1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.698447	0.68386	.	.	ENSG00000013293	ENST00000231706	D	0.90324	-2.65	5.26	5.26	0.73747	.	0.118551	0.64402	D	0.000019	D	0.92424	0.7595	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.93470	0.6818	10	0.72032	D	0.01	.	19.2442	0.93895	0.0:0.0:1.0:0.0	.	10	Q8TBB6	S7A14_HUMAN	T	10	ENSP00000231706:P10T	ENSP00000231706:P10T	P	-	1	0	SLC7A14	171727392	1.000000	0.71417	1.000000	0.80357	0.273000	0.26683	9.401000	0.97294	2.614000	0.88457	0.561000	0.74099	CCC		0.582	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352598.2	NM_020949		T	170244698	G	T	170244698	3	4	797	1	0	0	0	0	1	0	0	0	14702	1232	43	4	2315	4	SLC7A14	3	170244698	Missense_Mutation	SNP	G	TCGA-UN-AAZ9-01A-11D-A382-10	40548858	170244698	27777732	5	47503											
MSH3	4437	hgsc.bcm.edu	37	5	79950745	79950745	+	Missense_Mutation	SNP	C	C	G	rs144629981|rs3045983|rs557874766	byFrequency	TCGA-UN-AAZ9-01A-11D-A382-10	TCGA-UN-AAZ9-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c956b4f3-cd21-4ff0-8b37-32cd8da4ea6a	5295faa5-5eb5-4e32-abfe-7c9e1d725be6	g.chr5:79950745C>G	ENST00000265081.6	+	1	279	c.199C>G	c.(199-201)Cca>Gca	p.P67A	DHFR_ENST00000505337.1_5'Flank|DHFR_ENST00000511032.1_5'Flank|DHFR_ENST00000513048.1_5'Flank|DHFR_ENST00000439211.2_5'UTR|DHFR_ENST00000504396.1_5'Flank	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	67					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		CCCAGCGCCCCCAGCTCCCGC	0.731								Mismatch excision repair (MMR)					C|||	1091	0.217851	0.2678	0.1916	5008	,	,		6483	0.0476		0.2356	False		,,,				2504	0.3262				Melanoma(88;1010 1399 13793 26548 36275)											0													3	4	3					5																	79950745		1702	3410	5112	SO:0001583	missense	4437			U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"Divergent upstream protein", "Mismatch repair protein 1"	600887	"mutS (E. coli) homolog 3", "mutS homolog 3 (E. coli)"				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.199C>G	chr5.hg19:g.79950745C>G	ENSP00000265081:p.Pro67Ala		A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Missense_Mutation	SNP	ENST00000265081.6	hg19	CCDS34195.1	.	.	.	.	.	.	.	.	.	.	C	6.333	0.429466	0.11987	.	.	ENSG00000113318	ENST00000265081;ENST00000535995	D	0.85484	-1.99	.	.	.	.	.	.	.	.	T	0.70150	0.3191	N	0.19112	0.55	0.19945	N	0.999946	B	0.18741	0.03	B	0.17098	0.017	T	0.53507	-0.8429	6	.	.	.	0.6693	.	.	.	.	67	P20585	MSH3_HUMAN	A	67;58	ENSP00000265081:P67A	.	P	+	1	0	MSH3	79986501	0.560000	0.26570	0.857000	0.33713	0.119000	0.20118	0.055000	0.14229	0.064000	0.16427	0.064000	0.15345	CCA		0.731	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439		G	79950745	C	G	79950745	3	3	797	1	0	0	0	0	1	0	0	0	9873	623	22	4	201	4	MSH3	5	79950745	Missense_Mutation	SNP	C	TCGA-UN-AAZ9-01A-11D-A382-10		79950745	100964515	6	47504											
EPB41L4A	64097	hgsc.bcm.edu	37	5	111602024	111602024	+	Nonsense_Mutation	SNP	A	A	T			TCGA-UN-AAZ9-01A-11D-A382-10	TCGA-UN-AAZ9-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c956b4f3-cd21-4ff0-8b37-32cd8da4ea6a	5295faa5-5eb5-4e32-abfe-7c9e1d725be6	g.chr5:111602024A>T	ENST00000261486.5	-	5	615	c.339T>A	c.(337-339)taT>taA	p.Y113*		NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	113	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)				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)		AGAAAAACTGATATCTAAAAG	0.463																																																0													32	33	32					5																	111602024		1878	4109	5987	SO:0001587	stop_gained	64097			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.339T>A	chr5.hg19:g.111602024A>T	ENSP00000261486:p.Tyr113*		A4FUI6	Nonsense_Mutation	SNP	ENST00000261486.5	hg19	CCDS43350.1	.	.	.	.	.	.	.	.	.	.	A	36	5.879440	0.97062	.	.	ENSG00000129595	ENST00000261486	.	.	.	5.91	-4.25	0.03766	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.0521	0.58960	0.5598:0.0:0.4402:0.0	.	.	.	.	X	113	.	ENSP00000261486:Y113X	Y	-	3	2	EPB41L4A	111629923	0.989000	0.36119	0.970000	0.41538	0.897000	0.52465	0.329000	0.19698	-0.675000	0.05246	-0.256000	0.11100	TAT		0.463	EPB41L4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370969.1			T	111602024	A	T	111602024	4	4	797	1	0	0	0	0	0	1	0	0	5157	340	12	5	1797	5	EPB41L4A	5	111602024	Nonsense_Mutation	SNP	A	TCGA-UN-AAZ9-01A-11D-A382-10	31651279	111602024	69313236	7	47505											
TRIM36	55521	hgsc.bcm.edu	37	5	114462477	114462477	+	Missense_Mutation	SNP	G	G	C			TCGA-UN-AAZ9-01A-11D-A382-10	TCGA-UN-AAZ9-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c956b4f3-cd21-4ff0-8b37-32cd8da4ea6a	5295faa5-5eb5-4e32-abfe-7c9e1d725be6	g.chr5:114462477G>C	ENST00000282369.3	-	10	2031	c.1910C>G	c.(1909-1911)aCt>aGt	p.T637S	TRIM36_ENST00000514154.1_Missense_Mutation_p.T482S|TRIM36_ENST00000513154.1_Missense_Mutation_p.T625S	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	637	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726)	acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		CATGCCTATAGTAACTAAGGT	0.378																																																0													94	95	94					5																	114462477		2202	4300	6502	SO:0001583	missense	55521			AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	16280	protein-coding gene	gene with protein product	"zinc-binding protein Rbcc728", "tripartite motif protein 36", "RING finger protein 98"	609317	"tripartite motif-containing 36"			11331580	Standard	XM_005272031		Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000282369.3:c.1910C>G	chr5.hg19:g.114462477G>C	ENSP00000282369:p.Thr637Ser		A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Missense_Mutation	SNP	ENST00000282369.3	hg19	CCDS4115.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.511711	0.85389	.	.	ENSG00000152503	ENST00000282369;ENST00000513154;ENST00000514154	T;T;T	0.66995	-0.24;-0.24;-0.24	5.37	5.37	0.77165	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.103031	0.64402	D	0.000004	T	0.78470	0.4288	L	0.53249	1.67	0.80722	D	1	P;P	0.39696	0.477;0.683	B;P	0.58391	0.26;0.838	T	0.73927	-0.3828	10	0.34782	T	0.22	.	19.4818	0.95013	0.0:0.0:1.0:0.0	.	625;637	E9PFI8;Q9NQ86	.;TRI36_HUMAN	S	637;625;482	ENSP00000282369:T637S;ENSP00000423934:T625S;ENSP00000424259:T482S	ENSP00000282369:T637S	T	-	2	0	TRIM36	114490376	1.000000	0.71417	0.658000	0.29665	0.759000	0.43091	9.203000	0.95033	2.658000	0.90341	0.591000	0.81541	ACT		0.378	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250854.2	NM_018700		C	114462477	G	C	114462477	3	2	797	1	0	0	0	0	1	0	0	0	16515	1029	36	4	280	4	TRIM36	5	114462477	Missense_Mutation	SNP	G	TCGA-UN-AAZ9-01A-11D-A382-10	2860453	114462477	66452783	8	47506											
FOXC1	2296	hgsc.bcm.edu	37	6	1611915	1611916	+	Frame_Shift_Ins	INS	-	-	G			TCGA-UN-AAZ9-01A-11D-A382-10	TCGA-UN-AAZ9-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c956b4f3-cd21-4ff0-8b37-32cd8da4ea6a	5295faa5-5eb5-4e32-abfe-7c9e1d725be6	g.chr6:1611915_1611916insG	ENST00000380874.2	+	1	1235_1236	c.1235_1236insG	c.(1234-1239)ttgcagfs	p.Q413fs		NM_001453.2	NP_001444.2	Q12948	FOXC1_HUMAN	forkhead box C1	413					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|eye development (GO:0001654)|germ cell migration (GO:0008354)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lacrimal gland development (GO:0032808)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of mitotic cell cycle (GO:0045930)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|ovarian follicle development (GO:0001541)|paraxial mesoderm formation (GO:0048341)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)		GGGGGCCACTTGCAgggcgcgc	0.782																																					Pancreas(133;719 1821 3197 26645 35015)											0																																										SO:0001589	frameshift_variant	2296			AF048693	CCDS4473.1	6p25	2008-04-10			ENSG00000054598	ENSG00000054598		"Forkhead boxes"	3800	protein-coding gene	gene with protein product		601090		FKHL7, IRID1		7957066, 9620769	Standard	NM_001453		Approved	FREAC3, ARA, IGDA, IHG1	uc003mtp.3	Q12948	OTTHUMG00000016182	ENST00000380874.2:c.1236dupG	chr6.hg19:g.1611916_1611916dupG	ENSP00000370256:p.Gln413fs		Q86UP7|Q9BYM1|Q9NUE5|Q9UDD0|Q9UP06	Frame_Shift_Ins	INS	ENST00000380874.2	hg19	CCDS4473.1																																																																																				0.782	FOXC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043450.1			G	1611916	-	G	1611915	7	5	797	1	0	1	1	0	0	0	0	0	5996	1821	63	0	1237	0	FOXC1	6	1611915	Frame_Shift_Ins	INS	-	TCGA-UN-AAZ9-01A-11D-A382-10		1611915	169503152	9	47507											
RFX6	222546	hgsc.bcm.edu	37	6	117237249	117237249	+	Splice_Site	SNP	G	G	A			TCGA-UN-AAZ9-01A-11D-A382-10	TCGA-UN-AAZ9-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c956b4f3-cd21-4ff0-8b37-32cd8da4ea6a	5295faa5-5eb5-4e32-abfe-7c9e1d725be6	g.chr6:117237249G>A	ENST00000332958.2	+	8	874		c.e8+1		RFX6_ENST00000471966.1_Splice_Site	NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6						endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CTTTGAAGAGGTAAGAATGAC	0.308																																																0													111	109	110					6																	117237249		2203	4300	6503	SO:0001630	splice_region_variant	222546			BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"regulatory factor X domain containing 1"	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.858+1G>A	chr6.hg19:g.117237249G>A			Q5T6B3	Splice_Site	SNP	ENST00000332958.2	hg19	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.498525	0.85069	.	.	ENSG00000185002	ENST00000332958	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9384	0.97150	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RFX6	117343942	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	9.476000	0.97823	2.717000	0.92951	0.585000	0.79938	.		0.308	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560	Intron	A	117237249	G	A	117237249	5	1	797	1	0	0	0	0	0	0	1	0	13273	1275	44	2	889	2	RFX6	6	117237249	Splice_Site	SNP	G	TCGA-UN-AAZ9-01A-11D-A382-10	115625334	117237249	53877818	10	47508											
GPR158	57512	hgsc.bcm.edu	37	10	25464395	25464395	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UN-AAZ9-01A-11D-A382-10	TCGA-UN-AAZ9-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c956b4f3-cd21-4ff0-8b37-32cd8da4ea6a	5295faa5-5eb5-4e32-abfe-7c9e1d725be6	g.chr10:25464395C>T	ENST00000376351.3	+	1	405	c.46C>T	c.(46-48)Cag>Tag	p.Q16*	GPR158-AS1_ENST00000449643.1_RNA	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	16					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CCTGCTTGCTCAGCTGGGATT	0.637																																																0													35	41	39					10																	25464395		2203	4293	6496	SO:0001587	stop_gained	57512			AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"GPCR / Class C : Orphans"	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.46C>T	chr10.hg19:g.25464395C>T	ENSP00000365529:p.Gln16*		Q6QR81|Q9ULT3	Nonsense_Mutation	SNP	ENST00000376351.3	hg19	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	C	39	7.530076	0.98342	.	.	ENSG00000151025	ENST00000376351	.	.	.	4.72	4.72	0.59763	.	1.302630	0.05575	N	0.571782	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	11.0535	0.47905	0.0:0.9137:0.0:0.0863	.	.	.	.	X	16	.	ENSP00000365529:Q16X	Q	+	1	0	GPR158	25504401	0.641000	0.27251	0.139000	0.22197	0.942000	0.58702	3.736000	0.55052	2.462000	0.83206	0.467000	0.42956	CAG		0.637	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		T	25464395	C	T	25464395	4	4	797	1	0	0	0	0	0	1	0	0	6665	827	29	2	48	2	GPR158	10	25464395	Nonsense_Mutation	SNP	C	TCGA-UN-AAZ9-01A-11D-A382-10		25464395	110070352	11	47509											
HRASLS5	117245	hgsc.bcm.edu	37	11	63258431	63258432	+	Frame_Shift_Ins	INS	-	-	G	rs148328959		TCGA-UN-AAZ9-01A-11D-A382-10	TCGA-UN-AAZ9-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c956b4f3-cd21-4ff0-8b37-32cd8da4ea6a	5295faa5-5eb5-4e32-abfe-7c9e1d725be6	g.chr11:63258431_63258432insG	ENST00000301790.4	-	1	234_235	c.75_76insC	c.(73-78)cccgccfs	p.A26fs	HRASLS5_ENST00000539221.1_Frame_Shift_Ins_p.A26fs|HRASLS5_ENST00000540857.1_Frame_Shift_Ins_p.A26fs			Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5	26							transferase activity, transferring acyl groups (GO:0016746)			endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						GTTCGCGAGGCGGGTTTGGGGA	0.723																																																0																																										SO:0001589	frameshift_variant	117245			AJ416558	CCDS8044.1, CCDS53646.1, CCDS53647.1	11q13.2	2006-08-16			ENSG00000168004	ENSG00000168004			24978	protein-coding gene	gene with protein product		611474					Standard	NM_001146729		Approved	HRLP5	uc001nwy.2	Q96KN8	OTTHUMG00000167806	ENST00000301790.4:c.76dupC	chr11.hg19:g.63258434_63258434dupG	ENSP00000301790:p.Ala26fs		B7X6T1|F5GZ87|F5H4Y9	Frame_Shift_Ins	INS	ENST00000301790.4	hg19	CCDS8044.1																																																																																				0.723	HRASLS5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396375.1	NM_054108		G	63258432	-	G	63258431	7	5	797	1	0	1	1	0	0	0	0	0	7353	768	27	0	787	0	HRASLS5	11	63258431	Frame_Shift_Ins	INS	-	TCGA-UN-AAZ9-01A-11D-A382-10		63258431	71748085	12	47510											
GEFT	115557	hgsc.bcm.edu	37	12	58006909	58006909	+	Silent	SNP	T	T	A			TCGA-UN-AAZ9-01A-11D-A382-10	TCGA-UN-AAZ9-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c956b4f3-cd21-4ff0-8b37-32cd8da4ea6a	5295faa5-5eb5-4e32-abfe-7c9e1d725be6	g.chr12:58006909T>A	ENST00000286494.4	+	2	754	c.294T>A	c.(292-294)ggT>ggA	p.G98G	AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000444467.1_RNA|ARHGEF25_ENST00000333972.7_Silent_p.G137G|AC025165.8_ENST00000610219.1_RNA|AC025165.8_ENST00000593846.1_RNA	NM_182947.3	NP_891992	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	98						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						CAGACAGTGGTCAGGCAGGAC	0.587																																																0													34	29	30					12																	58006909		2203	4300	6503	SO:0001819	synonymous_variant	115557				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.294T>A	chr12.hg19:g.58006909T>A			A6NJH5|A9CQZ6|F8W7Z4|Q8WV84|Q96E63	Silent	SNP	ENST00000286494.4	hg19	CCDS8947.1																																																																																				0.587	ARHGEF25-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000326561.1	NM_133483		A	58006909	T	A	58006909	2	1	797	1	0	0	0	0	0	0	0	1	6330	1654	58	5		5	GEFT	12	58006909	Silent	SNP	T	TCGA-UN-AAZ9-01A-11D-A382-10		58006909	75844986	13	47511											
CHFR	55743	hgsc.bcm.edu	37	12	133428243	133428243	+	Missense_Mutation	SNP	C	C	G			TCGA-UN-AAZ9-01A-11D-A382-10	TCGA-UN-AAZ9-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c956b4f3-cd21-4ff0-8b37-32cd8da4ea6a	5295faa5-5eb5-4e32-abfe-7c9e1d725be6	g.chr12:133428243C>G	ENST00000432561.2	-	12	1562	c.1489G>C	c.(1489-1491)Gcg>Ccg	p.A497P	CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000537522.1_Missense_Mutation_p.A119P|CHFR_ENST00000266880.7_Missense_Mutation_p.A496P|CHFR_ENST00000315585.7_Missense_Mutation_p.A456P|CHFR_ENST00000450056.2_Missense_Mutation_p.A485P|CHFR_ENST00000443047.2_Missense_Mutation_p.A405P			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	497			A -> V (common polymorphism; dbSNP:rs2306541). {ECO:0000269|PubMed:11948416, ECO:0000269|PubMed:15489334}.		mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|modification-dependent protein catabolic process (GO:0019941)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)|PML body (GO:0016605)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		TCGCGCTCCGCTCTCCGGTCG	0.652																																																0													74	77	76					12																	133428243		2203	4300	6503	SO:0001583	missense	55743			AK001658	CCDS31937.1, CCDS53847.1, CCDS53848.1, CCDS53849.1	12q24.33	2012-02-23	2012-02-23			ENSG00000072609		"RING-type (C3HC4) zinc fingers"	20455	protein-coding gene	gene with protein product		605209	"checkpoint with forkhead and ring finger domains"			10935642, 11807090	Standard	NM_001161344		Approved	FLJ10796, RNF196	uc001ulf.2	Q96EP1		ENST00000432561.2:c.1489G>C	chr12.hg19:g.133428243C>G	ENSP00000392395:p.Ala497Pro		A6NEN5|B4DZ77|B4E2L6|Q96SL3|Q9NRT4|Q9NT32|Q9NVD5	Missense_Mutation	SNP	ENST00000432561.2	hg19	CCDS53849.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.116277	0.77323	.	.	ENSG00000072609	ENST00000315585;ENST00000443047;ENST00000450056;ENST00000266880;ENST00000537522;ENST00000541228;ENST00000432561	T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.52517	0.1739	L	0.55481	1.735	0.80722	D	1	B;D;D;D;D	0.67145	0.036;0.995;0.991;0.995;0.996	B;D;D;D;D	0.69479	0.059;0.964;0.921;0.964;0.956	T	0.22452	-1.0216	10	0.33940	T	0.23	-16.074	20.6634	0.99662	0.0:1.0:0.0:0.0	.	405;496;497;485;456	Q96EP1-5;Q96EP1-4;Q96EP1;Q96EP1-2;Q96EP1-3	.;.;CHFR_HUMAN;.;.	P	456;405;485;496;119;297;497	ENSP00000320557:A456P;ENSP00000416431:A405P;ENSP00000398735:A485P;ENSP00000266880:A496P;ENSP00000442327:A119P;ENSP00000392395:A497P	ENSP00000266880:A496P	A	-	1	0	CHFR	131938316	1.000000	0.71417	0.994000	0.49952	0.268000	0.26511	3.975000	0.56859	2.894000	0.99253	0.655000	0.94253	GCG		0.652	CHFR-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397130.2			G	133428243	C	G	133428243	3	3	797	1	0	0	0	0	1	0	0	0	3339	797	28	4	533	4	CHFR	12	133428243	Missense_Mutation	SNP	C	TCGA-UN-AAZ9-01A-11D-A382-10	75421334	133428243	423652	14	47512											
KIAA0247	9766	hgsc.bcm.edu	37	14	70171432	70171432	+	Missense_Mutation	SNP	C	C	G			TCGA-UN-AAZ9-01A-11D-A382-10	TCGA-UN-AAZ9-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c956b4f3-cd21-4ff0-8b37-32cd8da4ea6a	5295faa5-5eb5-4e32-abfe-7c9e1d725be6	g.chr14:70171432C>G	ENST00000342745.4	+	4	744	c.431C>G	c.(430-432)cCa>cGa	p.P144R		NM_014734.3	NP_055549.1	Q92537	K0247_HUMAN	KIAA0247	144						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)	10				all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196)		CTGCTGCAGCCAAAGCTGAAG	0.562																																																0													83	68	73					14																	70171432		2203	4300	6503	SO:0001583	missense	9766			D87434	CCDS9796.1	14q24.1	2012-11-29			ENSG00000100647	ENSG00000100647			19956	protein-coding gene	gene with protein product						9039502	Standard	NM_014734		Approved		uc001xlk.3	Q92537	OTTHUMG00000171234	ENST00000342745.4:c.431C>G	chr14.hg19:g.70171432C>G	ENSP00000344424:p.Pro144Arg			Missense_Mutation	SNP	ENST00000342745.4	hg19	CCDS9796.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.861030	0.91433	.	.	ENSG00000100647	ENST00000342745	T	0.66099	-0.19	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.78400	0.4277	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79808	-0.1647	10	0.72032	D	0.01	-13.2989	19.2191	0.93789	0.0:1.0:0.0:0.0	.	144	Q92537	K0247_HUMAN	R	144	ENSP00000344424:P144R	ENSP00000344424:P144R	P	+	2	0	KIAA0247	69241185	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.426000	0.80270	2.541000	0.85698	0.561000	0.74099	CCA		0.562	KIAA0247-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412453.1	NM_014734		G	70171432	C	G	70171432	3	3	797	1	0	0	0	0	1	0	0	0	8167	594	21	4	441	4	KIAA0247	14	70171432	Missense_Mutation	SNP	C	TCGA-UN-AAZ9-01A-11D-A382-10		70171432	37178108	15	47513											
SNRPA1	6627	hgsc.bcm.edu	37	15	101827180	101827180	+	Missense_Mutation	SNP	T	T	C			TCGA-UN-AAZ9-01A-11D-A382-10	TCGA-UN-AAZ9-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c956b4f3-cd21-4ff0-8b37-32cd8da4ea6a	5295faa5-5eb5-4e32-abfe-7c9e1d725be6	g.chr15:101827180T>C	ENST00000254193.6	-	5	464	c.392A>G	c.(391-393)tAc>tGc	p.Y131C	SNRPA1_ENST00000560856.1_5'UTR	NM_003090.2	NP_003081.2	P09661	RU2A_HUMAN	small nuclear ribonucleoprotein polypeptide A'	131	LRRCT.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U2 snRNP (GO:0005686)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ATACAATCTGTAATGCTTCTT	0.373																																																0													116	119	118					15																	101827180		2203	4299	6502	SO:0001583	missense	6627			AJ130971	CCDS10391.1	15q26.3	2011-10-11			ENSG00000131876	ENSG00000131876			11152	protein-coding gene	gene with protein product		603521				2928112	Standard	NM_003090		Approved	Lea1	uc002bww.3	P09661	OTTHUMG00000149871	ENST00000254193.6:c.392A>G	chr15.hg19:g.101827180T>C	ENSP00000254193:p.Tyr131Cys		B2R5I6|Q8TBD2	Missense_Mutation	SNP	ENST00000254193.6	hg19	CCDS10391.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.439257	0.83885	.	.	ENSG00000131876	ENST00000254193	T	0.62941	-0.01	5.62	5.62	0.85841	U2A&apos (1);/phosphoprotein 32 family A, C-terminal (1);	0.060291	0.64402	D	0.000002	D	0.85513	0.5714	H	0.96239	3.79	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90103	0.4186	10	0.87932	D	0	-11.2598	14.9907	0.71387	0.0:0.0:0.0:1.0	.	131	P09661	RU2A_HUMAN	C	131	ENSP00000254193:Y131C	ENSP00000254193:Y131C	Y	-	2	0	SNRPA1	99644703	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.564000	0.82326	2.127000	0.65507	0.533000	0.62120	TAC		0.373	SNRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313621.2	NM_003090		C	101827180	T	C	101827180	3	2	797	1	0	0	0	0	1	0	0	0	14866	1638	57	3	395	3	SNRPA1	15	101827180	Missense_Mutation	SNP	T	TCGA-UN-AAZ9-01A-11D-A382-10		101827180	704212	16	47514											
CCDC64B	146439	hgsc.bcm.edu	37	16	3079566	3079566	+	Missense_Mutation	SNP	C	C	T			TCGA-UN-AAZ9-01A-11D-A382-10	TCGA-UN-AAZ9-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c956b4f3-cd21-4ff0-8b37-32cd8da4ea6a	5295faa5-5eb5-4e32-abfe-7c9e1d725be6	g.chr16:3079566C>T	ENST00000572449.1	-	6	999	c.937G>A	c.(937-939)Gac>Aac	p.D313N	CCDC64B_ENST00000573514.1_Missense_Mutation_p.D106N|CCDC64B_ENST00000389347.4_Missense_Mutation_p.D313N|RP11-473M20.5_ENST00000382225.3_RNA			A1A5D9	BICR2_HUMAN	coiled-coil domain containing 64B	313										breast(1)|endometrium(2)|large_intestine(1)	4						CCGGGTGCGTCGGCGCCCTGG	0.682																																																0													7	8	8					16																	3079566		1861	4038	5899	SO:0001583	missense	146439			BC128602	CCDS45393.1	16p13.3	2008-07-04				ENSG00000162069			33584	protein-coding gene	gene with protein product							Standard	NM_001103175		Approved		uc002ctf.4	A1A5D9		ENST00000572449.1:c.937G>A	chr16.hg19:g.3079566C>T	ENSP00000459043:p.Asp313Asn		Q658L9	Missense_Mutation	SNP	ENST00000572449.1	hg19	CCDS45393.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.469255	0.43839	.	.	ENSG00000162069	ENST00000389347	T	0.30182	1.54	4.61	-0.595	0.11660	.	2.409390	0.01588	N	0.021386	T	0.18882	0.0453	N	0.21448	0.665	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.10917	-1.0609	10	0.16420	T	0.52	-0.5399	4.1455	0.10214	0.0:0.4688:0.1861:0.345	.	313	A1A5D9	BICR2_HUMAN	N	313	ENSP00000373998:D313N	ENSP00000373998:D313N	D	-	1	0	CCDC64B	3019567	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	1.142000	0.31540	0.317000	0.23160	0.491000	0.48974	GAC		0.682	CCDC64B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436991.1			T	3079566	C	T	3079566	3	4	797	1	0	0	0	0	1	0	0	0	2838	884	31	1	609	1	CCDC64B	16	3079566	Missense_Mutation	SNP	C	TCGA-UN-AAZ9-01A-11D-A382-10		3079566	87275187	17	47515											
FBXL19	54620	hgsc.bcm.edu	37	16	30953551	30953551	+	Missense_Mutation	SNP	G	G	T			TCGA-UN-AAZ9-01A-11D-A382-10	TCGA-UN-AAZ9-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c956b4f3-cd21-4ff0-8b37-32cd8da4ea6a	5295faa5-5eb5-4e32-abfe-7c9e1d725be6	g.chr16:30953551G>T	ENST00000380310.2	+	8	1634	c.1476G>T	c.(1474-1476)tgG>tgT	p.W492C	FBXL19_ENST00000562319.1_Missense_Mutation_p.W472C|FBXL19_ENST00000565690.1_Missense_Mutation_p.W356C|FBXL19_ENST00000338343.4_Missense_Mutation_p.W472C|FBXL19_ENST00000471231.2_Missense_Mutation_p.W180C	NM_001099784.2	NP_001093254.2	Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19	492					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						ACCTCAGCTGGACAGGTGTCT	0.632											OREG0023741	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													37	40	39					16																	30953551		2037	4186	6223	SO:0001583	missense	54620			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.1476G>T	chr16.hg19:g.30953551G>T	ENSP00000369666:p.Trp492Cys	821	A8MT10|Q8N789|Q9NT14	Missense_Mutation	SNP	ENST00000380310.2	hg19	CCDS45465.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.51|18.51	3.639759|3.639759	0.67244|0.67244	.|.	.|.	ENSG00000099364|ENSG00000099364	ENST00000427128|ENST00000338343;ENST00000380310	.|T;T	.|0.51817	.|0.69;0.69	4.73|4.73	4.73|4.73	0.59995|0.59995	.|.	.|0.835286	.|0.10889	.|N	.|0.622978	T|T	0.66177|0.66177	0.2763|0.2763	L|L	0.61036|0.61036	1.89|1.89	0.58432|0.58432	D|D	0.999998|0.999998	.|D;D	.|0.71674	.|0.979;0.998	.|P;P	.|0.62649	.|0.905;0.85	T|T	0.64198|0.64198	-0.6464|-0.6464	5|10	.|0.56958	.|D	.|0.05	-11.5857|-11.5857	16.9952|16.9952	0.86365|0.86365	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|492;449	.|Q6PCT2;Q6PCT2-2	.|FXL19_HUMAN;.	Y|C	384|472;492	.|ENSP00000339712:W472C;ENSP00000369666:W492C	.|ENSP00000339712:W472C	D|W	+|+	1|3	0|0	FBXL19|FBXL19	30861052|30861052	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	4.088000|4.088000	0.57678|0.57678	2.631000|2.631000	0.89168|0.89168	0.655000|0.655000	0.94253|0.94253	GAC|TGG		0.632	FBXL19-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_019085		T	30953551	G	T	30953551	3	4	797	1	0	0	0	0	1	0	0	0	5717	1183	41	4	1506	4	FBXL19	16	30953551	Missense_Mutation	SNP	G	TCGA-UN-AAZ9-01A-11D-A382-10	27873985	30953551	59401202	18	47516											
SERPINF1	5176	hgsc.bcm.edu	37	17	1675238	1675238	+	Missense_Mutation	SNP	G	G	A			TCGA-UN-AAZ9-01A-11D-A382-10	TCGA-UN-AAZ9-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c956b4f3-cd21-4ff0-8b37-32cd8da4ea6a	5295faa5-5eb5-4e32-abfe-7c9e1d725be6	g.chr17:1675238G>A	ENST00000254722.4	+	5	675	c.512G>A	c.(511-513)gGc>gAc	p.G171D		NM_002615.5	NP_002606.3	P36955	PEDF_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1	171					aging (GO:0007568)|cell proliferation (GO:0008283)|kidney development (GO:0001822)|multicellular organismal development (GO:0007275)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of inflammatory response (GO:0050728)|positive regulation of neurogenesis (GO:0050769)|regulation of proteolysis (GO:0030162)|response to glucocorticoid (GO:0051384)|response to retinoic acid (GO:0032526)|short-term memory (GO:0007614)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						GTCCTGACGGGCAACCCTCGC	0.557																																																0													70	66	67					17																	1675238		2203	4300	6503	SO:0001583	missense	5176			M76979	CCDS11012.1	17p13.3	2014-02-18	2005-08-18		ENSG00000132386	ENSG00000132386		"Serine (or cysteine) peptidase inhibitors"	8824	protein-coding gene	gene with protein product	"pigment epithelium-derived factor", "proliferation-inducing protein 35"	172860	"serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1"	PEDF		8434014, 24172014	Standard	NM_002615		Approved	EPC-1, PIG35	uc002ftl.3	P36955	OTTHUMG00000090571	ENST00000254722.4:c.512G>A	chr17.hg19:g.1675238G>A	ENSP00000254722:p.Gly171Asp		F1T092|Q13236|Q2TU83|Q96CT1|Q96R01|Q9BWA4	Missense_Mutation	SNP	ENST00000254722.4	hg19	CCDS11012.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.236450	0.79800	.	.	ENSG00000132386	ENST00000254722	T	0.35605	1.3	5.79	5.79	0.91817	Serpin domain (3);	0.000000	0.85682	D	0.000000	T	0.62109	0.2401	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.55134	-0.8188	10	0.27785	T	0.31	.	20.0212	0.97504	0.0:0.0:1.0:0.0	.	171	P36955	PEDF_HUMAN	D	171	ENSP00000254722:G171D	ENSP00000254722:G171D	G	+	2	0	SERPINF1	1621988	1.000000	0.71417	0.999000	0.59377	0.277000	0.26821	7.935000	0.87658	2.735000	0.93741	0.561000	0.74099	GGC		0.557	SERPINF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207109.4	NM_002615		A	1675238	G	A	1675238	3	1	797	1	0	0	0	0	1	0	0	0	14120	1203	42	2	526	2	SERPINF1	17	1675238	Missense_Mutation	SNP	G	TCGA-UN-AAZ9-01A-11D-A382-10		1675238	79519972	19	47517											
OR1A1	8383	hgsc.bcm.edu	37	17	3119721	3119721	+	Silent	SNP	C	C	T			TCGA-UN-AAZ9-01A-11D-A382-10	TCGA-UN-AAZ9-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c956b4f3-cd21-4ff0-8b37-32cd8da4ea6a	5295faa5-5eb5-4e32-abfe-7c9e1d725be6	g.chr17:3119721C>T	ENST00000304094.1	+	1	807	c.807C>T	c.(805-807)gaC>gaT	p.D269D		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, 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)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						GCCTAAAAGACGCAGTGATCA	0.478																																																0													153	135	141					17																	3119721		2203	4300	6503	SO:0001819	synonymous_variant	8383			AF087918	CCDS11022.1	17p13.3	2012-08-09			ENSG00000172146	ENSG00000172146		"GPCR / Class A : Olfactory receptors"	8179	protein-coding gene	gene with protein product						10673334	Standard	NM_014565		Approved	OR17-7	uc010vrc.2	Q9P1Q5	OTTHUMG00000090637	ENST00000304094.1:c.807C>T	chr17.hg19:g.3119721C>T			A5D914|Q6IFM1|Q6NTA9|Q96R87	Silent	SNP	ENST00000304094.1	hg19	CCDS11022.1																																																																																				0.478	OR1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207292.1	NM_014565		T	3119721	C	T	3119721	2	4	797	1	0	0	0	0	0	0	0	1	10951	535	19	1		1	OR1A1	17	3119721	Silent	SNP	C	TCGA-UN-AAZ9-01A-11D-A382-10	1444483	3119721	78075489	20	47518											
PER1	5187	hgsc.bcm.edu	37	17	8045218	8045218	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UN-AAZ9-01A-11D-A382-10	TCGA-UN-AAZ9-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c956b4f3-cd21-4ff0-8b37-32cd8da4ea6a	5295faa5-5eb5-4e32-abfe-7c9e1d725be6	g.chr17:8045218G>A	ENST00000317276.4	-	22	3742	c.3505C>T	c.(3505-3507)Cag>Tag	p.Q1169*	PER1_ENST00000578089.1_5'Flank|PER1_ENST00000581082.1_Nonsense_Mutation_p.Q1146*	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	1169	CRY binding domain. {ECO:0000250}.				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						CGAGGCTGCTGCTTCTGCATG	0.627			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes																															Dom	yes		17	17p13.1-17p12	5187	period homolog 1 (Drosophila)		L	0													53	61	58					17																	8045218		2203	4300	6503	SO:0001587	stop_gained	5187			AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"period (Drosophila) homolog 1", "period homolog 1 (Drosophila)"	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.3505C>T	chr17.hg19:g.8045218G>A	ENSP00000314420:p.Gln1169*		B2RPA8|B4DI49|D3DTR3	Nonsense_Mutation	SNP	ENST00000317276.4	hg19	CCDS11131.1	.	.	.	.	.	.	.	.	.	.	G	44	10.821248	0.99473	.	.	ENSG00000179094	ENST00000317276	.	.	.	5.67	5.67	0.87782	.	0.058964	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-16.6624	12.2416	0.54546	0.0:0.0:0.8302:0.1698	.	.	.	.	X	1169	.	ENSP00000314420:Q1169X	Q	-	1	0	PER1	7985943	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	5.071000	0.64382	2.697000	0.92050	0.655000	0.94253	CAG		0.627	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2			A	8045218	G	A	8045218	4	1	797	1	0	0	0	0	0	1	0	0	11731	1328	46	2	375	2	PER1	17	8045218	Nonsense_Mutation	SNP	G	TCGA-UN-AAZ9-01A-11D-A382-10	4925497	8045218	73149992	21	47519											
MYO18A	399687	hgsc.bcm.edu	37	17	27447674	27447674	+	Missense_Mutation	SNP	T	T	A			TCGA-UN-AAZ9-01A-11D-A382-10	TCGA-UN-AAZ9-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c956b4f3-cd21-4ff0-8b37-32cd8da4ea6a	5295faa5-5eb5-4e32-abfe-7c9e1d725be6	g.chr17:27447674T>A	ENST00000527372.1	-	7	1868	c.1688A>T	c.(1687-1689)gAc>gTc	p.D563V	MYO18A_ENST00000533112.1_Missense_Mutation_p.D563V|MYO18A_ENST00000531253.1_Missense_Mutation_p.D563V|MYO18A_ENST00000354329.4_Missense_Mutation_p.D563V	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	563	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)			TTGGTCAAAGTCCAGGGAGAG	0.572																																					Esophageal Squamous(182;472 2015 7001 15270 22562)											0													48	56	53					17																	27447674		2014	4174	6188	SO:0001583	missense	399687			D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"Myosins / Myosin superfamily : Class XVIII"	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.1688A>T	chr17.hg19:g.27447674T>A	ENSP00000437073:p.Asp563Val		Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	hg19	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	T	27.9	4.877086	0.91664	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000458428	D;D;D;D	0.87334	-2.24;-2.24;-2.24;-2.24	5.73	5.73	0.89815	Myosin head, motor domain (3);DNA recombination/repair protein RecA, monomer-monomer interface (1);	0.042693	0.85682	D	0.000000	D	0.93025	0.7780	M	0.76574	2.34	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.996;0.977;0.977;0.995	D;P;P;P;D	0.76575	0.988;0.9;0.847;0.847;0.959	D	0.93772	0.7076	10	0.87932	D	0	.	15.7063	0.77583	0.0:0.0:0.0:1.0	.	232;175;563;563;563	Q92614-2;F8W6Y3;Q92614-3;Q92614-4;Q92614	.;.;.;.;MY18A_HUMAN	V	563;563;563;563;563;175	ENSP00000346291:D563V;ENSP00000435932:D563V;ENSP00000434228:D563V;ENSP00000437073:D563V	ENSP00000346291:D563V	D	-	2	0	MYO18A	24471800	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.662000	0.83803	2.197000	0.70478	0.533000	0.62120	GAC		0.572	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		A	27447674	T	A	27447674	3	1	797	1	0	0	0	0	1	0	0	0	10067	1667	58	5	4620	5	MYO18A	17	27447674	Missense_Mutation	SNP	T	TCGA-UN-AAZ9-01A-11D-A382-10	19402456	27447674	53747536	22	47520											
FTCD	10841	hgsc.bcm.edu	37	21	47565766	47565766	+	Missense_Mutation	SNP	C	C	G			TCGA-UN-AAZ9-01A-11D-A382-10	TCGA-UN-AAZ9-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c956b4f3-cd21-4ff0-8b37-32cd8da4ea6a	5295faa5-5eb5-4e32-abfe-7c9e1d725be6	g.chr21:47565766C>G	ENST00000291670.5	-	9	1107	c.1064G>C	c.(1063-1065)gGg>gCg	p.G355A	FTCD_ENST00000355384.2_Missense_Mutation_p.G355A|FTCD_ENST00000397743.1_Missense_Mutation_p.G355A|FTCD_ENST00000359679.2_Missense_Mutation_p.G355A|FTCD_ENST00000397746.3_Missense_Mutation_p.G355A|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000397748.1_Missense_Mutation_p.G355A	NM_006657.2	NP_006648.1	O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	355	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)	cgagccgcccccgGGGGCCGC	0.781																																																0													1	2	2					21																	47565766		825	1870	2695	SO:0001583	missense	10841			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.1064G>C	chr21.hg19:g.47565766C>G	ENSP00000291670:p.Gly355Ala		B9EGD0|Q86V03|Q9HCT4|Q9HCT5|Q9HCT6|Q9UHJ2	Missense_Mutation	SNP	ENST00000291670.5	hg19	CCDS13731.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.104888	0.56291	.	.	ENSG00000160282	ENST00000291670;ENST00000397748;ENST00000359679;ENST00000355384;ENST00000397746;ENST00000397743	T;T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05;-1.05	4.91	4.91	0.64330	Cyclodeaminase/cyclohydrolase (2);	0.000000	0.85682	D	0.000000	D	0.90621	0.7059	H	0.95151	3.63	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	0.92495	0.6003	10	0.87932	D	0	.	11.2899	0.49244	0.0:0.91:0.0:0.09	.	355;355;355	B7WPK3;O95954-2;O95954	.;.;FTCD_HUMAN	A	355	ENSP00000291670:G355A;ENSP00000380856:G355A;ENSP00000352707:G355A;ENSP00000347545:G355A;ENSP00000380854:G355A;ENSP00000380851:G355A	ENSP00000291670:G355A	G	-	2	0	FTCD	46390194	0.968000	0.33430	0.963000	0.40424	0.157000	0.22087	3.958000	0.56737	2.279000	0.76181	0.453000	0.30009	GGG		0.781	FTCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206962.1	NM_006657		G	47565766	C	G	47565766	3	3	797	1	0	0	0	0	1	0	0	0	6083	623	22	4	585	4	FTCD	21	47565766	Missense_Mutation	SNP	C	TCGA-UN-AAZ9-01A-11D-A382-10		47565766	564129	23	47521											
FAM48B1	100130302	hgsc.bcm.edu	37	X	24382384	24382384	+	IGR	SNP	G	G	A			TCGA-UN-AAZ9-01A-11D-A382-10	TCGA-UN-AAZ9-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c956b4f3-cd21-4ff0-8b37-32cd8da4ea6a	5295faa5-5eb5-4e32-abfe-7c9e1d725be6	g.chrX:24382384G>A								AC004552.1 (15361 upstream) : PDK3 (100953 downstream)																							tgctgctgctgctgctgctgc	0.582																																																0													4	4	4					X																	24382384		1400	3165	4565	SO:0001628	intergenic_variant	100130302																															chrX.hg19:g.24382384G>A				Missense_Mutation	SNP		hg19																																																																																				0	0.582									A	24382384	G	A	24382384	1	1	797	0	1	0	0	0	0	0	0	0	5575	1319	46	2		2	FAM48B1	23	24382384	IGR	SNP	G	TCGA-UN-AAZ9-01A-11D-A382-10		24382384	130888176	24	47522											
DOCK11	139818	hgsc.bcm.edu	37	X	117817167	117817167	+	Missense_Mutation	SNP	T	T	G			TCGA-UN-AAZ9-01A-11D-A382-10	TCGA-UN-AAZ9-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c956b4f3-cd21-4ff0-8b37-32cd8da4ea6a	5295faa5-5eb5-4e32-abfe-7c9e1d725be6	g.chrX:117817167T>G	ENST00000276202.7	+	52	6152	c.6089T>G	c.(6088-6090)aTt>aGt	p.I2030S	DOCK11_ENST00000276204.6_Missense_Mutation_p.I2030S	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	2030	DHR-2.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TTATCTGACATTATCCATGAG	0.368																																																0													90	84	86					X																	117817167		2203	4300	6503	SO:0001583	missense	139818			AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"Pleckstrin homology (PH) domain containing"	23483	protein-coding gene	gene with protein product	"zizimin2"	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.6089T>G	chrX.hg19:g.117817167T>G	ENSP00000276202:p.Ile2030Ser		A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	hg19	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.412721	0.83340	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.19105	2.17;2.18	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.45696	0.1355	M	0.66939	2.045	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.44019	-0.9355	10	0.87932	D	0	-14.345	14.4074	0.67090	0.0:0.0:0.0:1.0	.	2030;2030	A6NIW2;Q5JSL3	.;DOC11_HUMAN	S	2030	ENSP00000276204:I2030S;ENSP00000276202:I2030S	ENSP00000276202:I2030S	I	+	2	0	DOCK11	117701195	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.621000	0.83083	2.001000	0.58596	0.486000	0.48141	ATT		0.368	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		G	117817167	T	G	117817167	3	3	797	1	0	0	0	0	1	0	0	0	4688	1493	52	5	6295	5	DOCK11	23	117817167	Missense_Mutation	SNP	T	TCGA-UN-AAZ9-01A-11D-A382-10	93434783	117817167	37453393	25	47523											
CLIC4	25932	hgsc.bcm.edu	37	1	25140695	25140695	+	Missense_Mutation	SNP	T	T	C			TCGA-UZ-A9PJ-01A-11D-A382-10	TCGA-UZ-A9PJ-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	beb8581d-8471-4411-9521-4bf057f7d14a	b67bfe0e-ad19-4c1c-a9f3-cee65c1fee86	g.chr1:25140695T>C	ENST00000374379.4	+	3	490	c.293T>C	c.(292-294)gTc>gCc	p.V98A	CLIC4_ENST00000497755.1_3'UTR	NM_013943.2	NP_039234.1	Q9Y696	CLIC4_HUMAN	chloride intracellular channel 4	98	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)		CTTGAAGAAGTCTTATGCCCT	0.403																																																0													81	86	84					1																	25140695		2203	4300	6503	SO:0001583	missense	25932			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.293T>C	chr1.hg19:g.25140695T>C	ENSP00000363500:p.Val98Ala		Q9UFW9|Q9UQJ6	Missense_Mutation	SNP	ENST00000374379.4	hg19	CCDS256.1	.	.	.	.	.	.	.	.	.	.	T	16.56	3.156029	0.57259	.	.	ENSG00000169504	ENST00000374379;ENST00000444041	T	0.41065	1.01	5.85	5.85	0.93711	Glutathione S-transferase/chloride channel, C-terminal (1);Thioredoxin-like fold (2);	0.054502	0.64402	D	0.000001	T	0.34542	0.0901	N	0.25992	0.78	0.29632	N	0.845361	B;B	0.31459	0.092;0.324	B;B	0.38921	0.138;0.285	T	0.24764	-1.0151	10	0.10902	T	0.67	-14.6151	15.2247	0.73342	0.0:0.0:0.0:1.0	.	78;98	B3KTR3;Q9Y696	.;CLIC4_HUMAN	A	98	ENSP00000363500:V98A	ENSP00000363500:V98A	V	+	2	0	CLIC4	25013282	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.902000	0.69869	2.234000	0.73211	0.533000	0.62120	GTC		0.403	CLIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009332.1	NM_013943		C	25140695	T	C	25140695	3	2	798	1	0	0	0	0	1	0	0	0	3530	1667	58	3	303	3	CLIC4	1	25140695	Missense_Mutation	SNP	T	TCGA-UZ-A9PJ-01A-11D-A382-10		25140695	224109926	1	47524											
ACADM	34	hgsc.bcm.edu	37	1	76211529	76211529	+	Missense_Mutation	SNP	C	C	T			TCGA-UZ-A9PJ-01A-11D-A382-10	TCGA-UZ-A9PJ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	beb8581d-8471-4411-9521-4bf057f7d14a	b67bfe0e-ad19-4c1c-a9f3-cee65c1fee86	g.chr1:76211529C>T	ENST00000370841.4	+	8	1075	c.638C>T	c.(637-639)gCt>gTt	p.A213V	ACADM_ENST00000541113.1_Missense_Mutation_p.A177V|ACADM_ENST00000420607.2_Missense_Mutation_p.A217V|ACADM_ENST00000370834.5_Missense_Mutation_p.A246V|ACADM_ENST00000543667.1_Missense_Mutation_p.A24V	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	213					cardiac muscle cell differentiation (GO:0055007)|carnitine biosynthetic process (GO:0045329)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|glycogen biosynthetic process (GO:0005978)|liver development (GO:0001889)|medium-chain fatty acid catabolic process (GO:0051793)|medium-chain fatty acid metabolic process (GO:0051791)|oxidation-reduction process (GO:0055114)|post-embryonic development (GO:0009791)|regulation of gluconeogenesis (GO:0006111)|response to cold (GO:0009409)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|identical protein binding (GO:0042802)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)			breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18					Flavin adenine dinucleotide(DB03147)	GATCCTAAAGCTCCTGCTAAT	0.393																																																0													100	99	100					1																	76211529		2203	4300	6503	SO:0001583	missense	34			M16827	CCDS668.1, CCDS44165.1, CCDS65562.1, CCDS72807.1	1p31	2014-09-17	2010-04-30		ENSG00000117054	ENSG00000117054	1.3.99.3		89	protein-coding gene	gene with protein product		607008	"acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain"			3035565	Standard	NM_000016		Approved	MCAD, MCADH, ACAD1	uc009wbp.3	P11310	OTTHUMG00000009784	ENST00000370841.4:c.638C>T	chr1.hg19:g.76211529C>T	ENSP00000359878:p.Ala213Val		Q5T4U4|Q9NYF1	Missense_Mutation	SNP	ENST00000370841.4	hg19	CCDS668.1	.	.	.	.	.	.	.	.	.	.	C	11.95	1.792473	0.31685	.	.	ENSG00000117054	ENST00000370841;ENST00000370834;ENST00000541113;ENST00000543667;ENST00000420607	D;D;D;D;D	0.97924	-4.61;-4.54;-4.58;-4.15;-4.61	5.83	3.94	0.45596	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (1);	0.516485	0.23727	N	0.045173	D	0.93080	0.7797	M	0.67397	2.05	0.22684	N	0.99886	B;B;B;B;B	0.14012	0.009;0.002;0.003;0.008;0.002	B;B;B;B;B	0.11329	0.005;0.001;0.005;0.006;0.002	D	0.89120	0.3502	10	0.49607	T	0.09	.	8.7825	0.34800	0.0:0.7664:0.0:0.2336	.	177;127;246;217;213	B7Z9I1;B4DVE0;Q5T4U5;P11310-2;P11310	.;.;.;.;ACADM_HUMAN	V	213;246;177;24;217	ENSP00000359878:A213V;ENSP00000359871:A246V;ENSP00000442324:A177V;ENSP00000446176:A24V;ENSP00000409612:A217V	ENSP00000359871:A246V	A	+	2	0	ACADM	75984117	0.584000	0.26766	0.857000	0.33713	0.361000	0.29550	0.724000	0.25954	0.780000	0.33566	0.585000	0.79938	GCT		0.393	ACADM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026967.1			T	76211529	C	T	76211529	3	4	798	1	0	0	0	0	1	0	0	0	113	797	28	2	680	2	ACADM	1	76211529	Missense_Mutation	SNP	C	TCGA-UZ-A9PJ-01A-11D-A382-10	51070834	76211529	173039092	2	47525											
BCAR3	8412	hgsc.bcm.edu	37	1	94054942	94054942	+	Missense_Mutation	SNP	A	A	G			TCGA-UZ-A9PJ-01A-11D-A382-10	TCGA-UZ-A9PJ-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	beb8581d-8471-4411-9521-4bf057f7d14a	b67bfe0e-ad19-4c1c-a9f3-cee65c1fee86	g.chr1:94054942A>G	ENST00000370244.1	-	7	809	c.521T>C	c.(520-522)tTc>tCc	p.F174S	BCAR3_ENST00000260502.6_Missense_Mutation_p.F174S|RP5-1033H22.2_ENST00000431770.1_RNA|BCAR3_ENST00000370247.3_Missense_Mutation_p.F83S|BCAR3_ENST00000370243.1_Missense_Mutation_p.F174S|RP5-1033H22.2_ENST00000417401.1_RNA|RP5-1033H22.2_ENST00000427243.1_RNA	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	174	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				lens morphogenesis in camera-type eye (GO:0002089)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		ACGAACTAGGAAGTCACCATC	0.483																																																0													53	53	53					1																	94054942		2203	4300	6503	SO:0001583	missense	8412			U92715	CCDS745.1, CCDS58010.1	1p22.1	2013-02-14			ENSG00000137936	ENSG00000137936		"SH2 domain containing"	973	protein-coding gene	gene with protein product		604704				9582273	Standard	NM_001261408		Approved	NSP2, SH2D3B	uc001dpz.4	O75815	OTTHUMG00000010301	ENST00000370244.1:c.521T>C	chr1.hg19:g.94054942A>G	ENSP00000359264:p.Phe174Ser		D3DT43|Q5TEW3|Q6UW40|Q9BR50	Missense_Mutation	SNP	ENST00000370244.1	hg19	CCDS745.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.632314	0.87660	.	.	ENSG00000137936	ENST00000370247;ENST00000260502;ENST00000370244;ENST00000370243	D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73	5.1	5.1	0.69264	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.94568	0.8250	H	0.99090	4.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96857	0.9629	10	0.87932	D	0	-3.8704	15.167	0.72837	1.0:0.0:0.0:0.0	.	174;83	O75815;Q5TEW3	BCAR3_HUMAN;.	S	83;174;174;174	ENSP00000359267:F83S;ENSP00000260502:F174S;ENSP00000359264:F174S;ENSP00000359263:F174S	ENSP00000260502:F174S	F	-	2	0	BCAR3	93827530	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	8.848000	0.92172	2.052000	0.61016	0.533000	0.62120	TTC		0.483	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028420.1			G	94054942	A	G	94054942	3	3	798	1	0	0	0	0	1	0	0	0	1349	246	9	3	1988	3	BCAR3	1	94054942	Missense_Mutation	SNP	A	TCGA-UZ-A9PJ-01A-11D-A382-10	17843413	94054942	155195679	3	47526											
CELSR2	1952	hgsc.bcm.edu	37	1	109794683	109794683	+	Missense_Mutation	SNP	A	A	G			TCGA-UZ-A9PJ-01A-11D-A382-10	TCGA-UZ-A9PJ-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	beb8581d-8471-4411-9521-4bf057f7d14a	b67bfe0e-ad19-4c1c-a9f3-cee65c1fee86	g.chr1:109794683A>G	ENST00000271332.3	+	1	2043	c.1982A>G	c.(1981-1983)cAa>cGa	p.Q661R		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	661	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		ATCACCAGCCAAAGTGGTGGT	0.567																																					NSCLC(158;1285 2011 34800 34852 42084)											0													138	130	133					1																	109794683		2203	4300	6503	SO:0001583	missense	1952			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3231	protein-coding gene	gene with protein product		604265	"cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.1982A>G	chr1.hg19:g.109794683A>G	ENSP00000271332:p.Gln661Arg		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	hg19	CCDS796.1	.	.	.	.	.	.	.	.	.	.	N	16.85	3.236767	0.58886	.	.	ENSG00000143126	ENST00000271332	T	0.51071	0.72	4.95	4.95	0.65309	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.43919	0.1269	N	0.24115	0.695	0.54753	D	0.999985	D	0.76494	0.999	D	0.79108	0.992	T	0.43343	-0.9397	9	0.37606	T	0.19	.	14.8253	0.70107	1.0:0.0:0.0:0.0	.	661	Q9HCU4	CELR2_HUMAN	R	661	ENSP00000271332:Q661R	ENSP00000271332:Q661R	Q	+	2	0	CELSR2	109596206	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.709000	0.91379	2.102000	0.63906	0.529000	0.55759	CAA		0.567	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		G	109794683	A	G	109794683	3	3	798	1	0	0	0	0	1	0	0	0	3224	130	5	3	1984	3	CELSR2	1	109794683	Missense_Mutation	SNP	A	TCGA-UZ-A9PJ-01A-11D-A382-10	15739741	109794683	139455938	4	47527											
CTTNBP2NL	55917	hgsc.bcm.edu	37	1	112999757	112999757	+	Missense_Mutation	SNP	A	A	G			TCGA-UZ-A9PJ-01A-11D-A382-10	TCGA-UZ-A9PJ-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	beb8581d-8471-4411-9521-4bf057f7d14a	b67bfe0e-ad19-4c1c-a9f3-cee65c1fee86	g.chr1:112999757A>G	ENST00000271277.6	+	6	1868	c.1643A>G	c.(1642-1644)cAt>cGt	p.H548R	CTTNBP2NL_ENST00000607039.1_3'UTR	NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	548					negative regulation of transmembrane transport (GO:0034763)|negative regulation of transporter activity (GO:0032410)|protein dephosphorylation (GO:0006470)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		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)		GACACAAGCCATTCACCTACT	0.552																																																0													158	146	150					1																	112999757		2203	4300	6503	SO:0001583	missense	55917			AB037854	CCDS845.1	1p13.2	2008-02-05			ENSG00000143079	ENSG00000143079			25330	protein-coding gene	gene with protein product		615100				10718198	Standard	NM_018704		Approved	DKFZp547A023	uc001ebx.3	Q9P2B4	OTTHUMG00000011154	ENST00000271277.6:c.1643A>G	chr1.hg19:g.112999757A>G	ENSP00000271277:p.His548Arg		B3KMS5|Q96B40	Missense_Mutation	SNP	ENST00000271277.6	hg19	CCDS845.1	.	.	.	.	.	.	.	.	.	.	A	13.00	2.105932	0.37145	.	.	ENSG00000143079	ENST00000271277	T	0.21543	2.0	5.55	5.55	0.83447	.	0.118926	0.56097	D	0.000024	T	0.27278	0.0669	L	0.51422	1.61	0.53688	D	0.999971	D	0.57899	0.981	D	0.69824	0.966	T	0.02093	-1.1215	10	0.25106	T	0.35	-15.3785	14.5055	0.67750	1.0:0.0:0.0:0.0	.	548	Q9P2B4	CT2NL_HUMAN	R	548	ENSP00000271277:H548R	ENSP00000271277:H548R	H	+	2	0	CTTNBP2NL	112801280	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.619000	0.61218	2.108000	0.64289	0.379000	0.24179	CAT		0.552	CTTNBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030686.1	NM_018704		G	112999757	A	G	112999757	3	3	798	1	0	0	0	0	1	0	0	0	4048	217	8	3	1657	3	CTTNBP2NL	1	112999757	Missense_Mutation	SNP	A	TCGA-UZ-A9PJ-01A-11D-A382-10	3205074	112999757	136250864	5	47528											
DHX9	1660	hgsc.bcm.edu	37	1	182822459	182822459	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9PJ-01A-11D-A382-10	TCGA-UZ-A9PJ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	beb8581d-8471-4411-9521-4bf057f7d14a	b67bfe0e-ad19-4c1c-a9f3-cee65c1fee86	g.chr1:182822459G>A	ENST00000367549.3	+	5	493	c.383G>A	c.(382-384)gGg>gAg	p.G128E		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	128	Interaction with CREBBP.				ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						TCTGAGGTAGGGGCCTCTGGC	0.388																																					Colon(69;210 1162 3697 13559 39565)											0													57	59	58					1																	182822459		1820	4076	5896	SO:0001583	missense	1660			L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"DEAH-boxes"	2750	protein-coding gene	gene with protein product	"NDH II", "RNA helicase A"	603115	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)", "DEAH (Asp-Glu-Ala-His) box polypeptide 9"	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.383G>A	chr1.hg19:g.182822459G>A	ENSP00000356520:p.Gly128Glu		B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	ENST00000367549.3	hg19	CCDS41444.1	.	.	.	.	.	.	.	.	.	.	G	0.033	-1.321463	0.01320	.	.	ENSG00000135829	ENST00000399175;ENST00000367549	T	0.03580	3.88	5.85	3.59	0.41128	.	0.192677	0.43919	N	0.000511	T	0.02571	0.0078	L	0.31065	0.9	0.28768	N	0.90053	B	0.02656	0.0	B	0.04013	0.001	T	0.45205	-0.9277	10	0.02654	T	1	.	8.8523	0.35208	0.2076:0.0:0.7924:0.0	.	128	Q08211	DHX9_HUMAN	E	128	ENSP00000356520:G128E	ENSP00000356520:G128E	G	+	2	0	DHX9	181089082	0.998000	0.40836	0.324000	0.25361	0.236000	0.25371	2.876000	0.48498	0.558000	0.29135	0.650000	0.86243	GGG		0.388	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588		A	182822459	G	A	182822459	3	1	798	1	0	0	0	0	1	0	0	0	4518	1232	43	2	397	2	DHX9	1	182822459	Missense_Mutation	SNP	G	TCGA-UZ-A9PJ-01A-11D-A382-10	69822702	182822459	66428162	6	47529											
ESRRG	2104	hgsc.bcm.edu	37	1	216850790	216850798	+	In_Frame_Del	DEL	TGGAATCAA	TGGAATCAA	-			TCGA-UZ-A9PJ-01A-11D-A382-10	TCGA-UZ-A9PJ-10A-01D-A385-10	TGGAATCAA	TGGAATCAA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	beb8581d-8471-4411-9521-4bf057f7d14a	b67bfe0e-ad19-4c1c-a9f3-cee65c1fee86	g.chr1:216850790_216850798delTGGAATCAA	ENST00000408911.3	-	2	245_253	c.92_100delTTGATTCCA	c.(91-102)attgattccagc>agc	p.IDS31del	ESRRG_ENST00000391890.3_In_Frame_Del_p.IDS8del|ESRRG_ENST00000361395.2_In_Frame_Del_p.IDS8del|ESRRG_ENST00000493748.1_In_Frame_Del_p.IDS8del|ESRRG_ENST00000360012.3_In_Frame_Del_p.IDS8del|ESRRG_ENST00000366938.2_In_Frame_Del_p.IDS8del|ESRRG_ENST00000487276.1_In_Frame_Del_p.IDS8del|ESRRG_ENST00000366937.1_In_Frame_Del_p.IDS36del|ESRRG_ENST00000359162.2_In_Frame_Del_p.IDS8del|ESRRG_ENST00000361525.3_In_Frame_Del_p.IDS8del|ESRRG_ENST00000366940.2_In_Frame_Del_p.IDS8del|ESRRG_ENST00000493603.1_In_Frame_Del_p.IDS8del|ESRRG_ENST00000463665.1_In_Frame_Del_p.IDS8del	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma	31					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	AF-2 domain binding (GO:0050682)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	GACGAACAGCTGGAATCAATGTGTCGATC	0.522																																																0																																										SO:0001651	inframe_deletion	2104			AF058291	CCDS1517.1, CCDS41468.1, CCDS58060.1, CCDS58061.1	1q41	2014-02-18			ENSG00000196482	ENSG00000196482		"Nuclear hormone receptors"	3474	protein-coding gene	gene with protein product		602969				9676434, 10072763	Standard	NM_001243505		Approved	NR3B3	uc001hkw.2	P62508	OTTHUMG00000037025	ENST00000408911.3:c.92_100delTTGATTCCA	chr1.hg19:g.216850790_216850798delTGGAATCAA	ENSP00000386171:p.Ile31_Ser33del		A8K4I0|A8K6I2|B3KY84|E9PGB7|F8W8J3|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	In_Frame_Del	DEL	ENST00000408911.3	hg19	CCDS41468.1																																																																																				0.522	ESRRG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089882.2	NM_206595		-	216850798	TGGAATCAA	-	216850790	7	5	798	1	0	1	0	1	0	0	0	0	5264	1580	55	0	1300	0	ESRRG	1	216850790	In_Frame_Del	DEL	TGGAATCAA	TCGA-UZ-A9PJ-01A-11D-A382-10	34028331	216850790	32399831	7	47530											
DNMT3A	1788	hgsc.bcm.edu	37	2	25461998	25461998	+	Splice_Site	SNP	C	C	A			TCGA-UZ-A9PJ-01A-11D-A382-10	TCGA-UZ-A9PJ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	beb8581d-8471-4411-9521-4bf057f7d14a	b67bfe0e-ad19-4c1c-a9f3-cee65c1fee86	g.chr2:25461998C>A	ENST00000264709.3	-	20	2746		c.e20+1		DNMT3A_ENST00000321117.5_Splice_Site|DNMT3A_ENST00000402667.1_Splice_Site|DNMT3A_ENST00000380746.4_Splice_Site|DNMT3A_ENST00000474887.1_Splice_Site	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha						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)					CTTTCACCAACCTGTTCATAC	0.607			"Mis, F, N, S"		AML																																		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	0													52	48	49					2																	25461998		2203	4300	6503	SO:0001630	splice_region_variant	1788				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2408+1G>T	chr2.hg19:g.25461998C>A			E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Splice_Site	SNP	ENST00000264709.3	hg19	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.205133	0.79127	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	.	.	.	5.64	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5916	0.61964	0.1566:0.8434:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DNMT3A	25315502	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.783000	0.85696	1.367000	0.46095	0.561000	0.74099	.		0.607	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552	Intron	A	25461998	C	A	25461998	5	1	798	1	0	0	0	0	0	0	1	0	4678	521	18	4	345	4	DNMT3A	2	25461998	Splice_Site	SNP	C	TCGA-UZ-A9PJ-01A-11D-A382-10		25461998	217737375	8	47531											
TANK	10010	hgsc.bcm.edu	37	2	162087645	162087645	+	Silent	SNP	A	A	G			TCGA-UZ-A9PJ-01A-11D-A382-10	TCGA-UZ-A9PJ-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	beb8581d-8471-4411-9521-4bf057f7d14a	b67bfe0e-ad19-4c1c-a9f3-cee65c1fee86	g.chr2:162087645A>G	ENST00000392749.2	+	7	923	c.684A>G	c.(682-684)tcA>tcG	p.S228S	TANK_ENST00000402568.1_Intron|TANK_ENST00000405852.1_Silent_p.S228S|TANK_ENST00000406287.1_Intron|AC009299.2_ENST00000445372.1_RNA|TANK_ENST00000259075.2_Silent_p.S228S|AC009299.2_ENST00000421122.2_RNA	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN	TRAF family member-associated NFKB activator	228					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						CTTTTGAATCACTTTCTAAAT	0.448																																																0													126	122	123					2																	162087645		2203	4300	6503	SO:0001819	synonymous_variant	10010			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.684A>G	chr2.hg19:g.162087645A>G			D3DPB5|Q7Z4J6|Q92885	Silent	SNP	ENST00000392749.2	hg19	CCDS2215.1																																																																																				0.448	TANK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324232.1	NM_133484		G	162087645	A	G	162087645	2	3	798	1	0	0	0	0	0	0	0	1	15551	146	6	3		3	TANK	2	162087645	Silent	SNP	A	TCGA-UZ-A9PJ-01A-11D-A382-10	136625647	162087645	81111728	9	47532											
CDCA7	83879	hgsc.bcm.edu	37	2	174230206	174230206	+	Silent	SNP	C	C	G			TCGA-UZ-A9PJ-01A-11D-A382-10	TCGA-UZ-A9PJ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	beb8581d-8471-4411-9521-4bf057f7d14a	b67bfe0e-ad19-4c1c-a9f3-cee65c1fee86	g.chr2:174230206C>G	ENST00000347703.3	+	6	828	c.684C>G	c.(682-684)cgC>cgG	p.R228R	CDCA7_ENST00000306721.3_Silent_p.R307R|CDCA7_ENST00000392567.2_Silent_p.R228R|CDCA7_ENST00000410019.3_Silent_p.R186R|CDCA7_ENST00000410101.3_Silent_p.R263R	NM_145810.2	NP_665809.1	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7	228					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)			GAAGCCGTCGCTCCAGATCAT	0.433																																																0													76	77	77					2																	174230206		2203	4300	6503	SO:0001819	synonymous_variant	83879			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.684C>G	chr2.hg19:g.174230206C>G			B4DLP8|B4DV66|Q53EW5|Q580W9|Q658K4|Q658N4|Q8NBY9|Q96BV8|Q96SP5	Silent	SNP	ENST00000347703.3	hg19	CCDS2253.1																																																																																				0.433	CDCA7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255400.1	NM_031942		G	174230206	C	G	174230206	2	3	798	1	0	0	0	0	0	0	0	1	3092	784	28	4		4	CDCA7	2	174230206	Silent	SNP	C	TCGA-UZ-A9PJ-01A-11D-A382-10	12142561	174230206	68969167	10	47533											
TTN	7273	hgsc.bcm.edu	37	2	179469796	179469796	+	Silent	SNP	G	G	A			TCGA-UZ-A9PJ-01A-11D-A382-10	TCGA-UZ-A9PJ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	beb8581d-8471-4411-9521-4bf057f7d14a	b67bfe0e-ad19-4c1c-a9f3-cee65c1fee86	g.chr2:179469796G>A	ENST00000591111.1	-	230	49409	c.49185C>T	c.(49183-49185)gtC>gtT	p.V16395V	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.V9096V|TTN_ENST00000460472.2_Silent_p.V8971V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Silent_p.V18036V|TTN_ENST00000342992.6_Silent_p.V15468V|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Silent_p.V9163V|TTN-AS1_ENST00000589234.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16395	Ig-like 100.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTCCTCCCGGACCGCTTTGG	0.448																																																0													243	226	232					2																	179469796		1919	4124	6043	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.49185C>T	chr2.hg19:g.179469796G>A			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	hg19																																																																																					0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179469796	G	A	179469796	2	1	798	1	0	0	0	0	0	0	0	1	16740	1161	41	2		2	TTN	2	179469796	Silent	SNP	G	TCGA-UZ-A9PJ-01A-11D-A382-10	5239590	179469796	63729577	11	47534											
MARCH4	57574	hgsc.bcm.edu	37	2	217124358	217124358	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9PJ-01A-11D-A382-10	TCGA-UZ-A9PJ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	beb8581d-8471-4411-9521-4bf057f7d14a	b67bfe0e-ad19-4c1c-a9f3-cee65c1fee86	g.chr2:217124358G>A	ENST00000273067.4	-	4	2676	c.910C>T	c.(910-912)Cgg>Tgg	p.R304W	AC012513.6_ENST00000417481.1_RNA	NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	304						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)		GCCTGCCACCGTTTAAAGATG	0.552																																																0													72	62	65					2																	217124358		2203	4300	6503	SO:0001583	missense	57574			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.910C>T	chr2.hg19:g.217124358G>A	ENSP00000273067:p.Arg304Trp		Q4KMN7|Q86WR8	Missense_Mutation	SNP	ENST00000273067.4	hg19	CCDS33376.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.630141	0.87660	.	.	ENSG00000144583	ENST00000273067	T	0.60797	0.16	5.51	3.62	0.41486	.	0.000000	0.85682	D	0.000000	T	0.74336	0.3703	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78486	-0.2185	10	0.87932	D	0	-3.9764	13.8298	0.63373	0.0:0.0:0.7219:0.2781	.	304	Q9P2E8	MARH4_HUMAN	W	304	ENSP00000273067:R304W	ENSP00000273067:R304W	R	-	1	2	MARCH4	216832603	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.743000	0.62110	1.302000	0.44855	0.561000	0.74099	CGG		0.552	MARCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337272.2	NM_020814		A	217124358	G	A	217124358	3	1	798	1	0	0	0	0	1	0	0	0	9305	1144	40	1	326	1	MARCH4	2	217124358	Missense_Mutation	SNP	G	TCGA-UZ-A9PJ-01A-11D-A382-10	37654562	217124358	26075015	12	47535											
CELSR3	1951	hgsc.bcm.edu	37	3	48698992	48699004	+	Frame_Shift_Del	DEL	CGCCCGGCCTCGC	CGCCCGGCCTCGC	-			TCGA-UZ-A9PJ-01A-11D-A382-10	TCGA-UZ-A9PJ-10A-01D-A385-10	CGCCCGGCCTCGC	CGCCCGGCCTCGC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	beb8581d-8471-4411-9521-4bf057f7d14a	b67bfe0e-ad19-4c1c-a9f3-cee65c1fee86	g.chr3:48698992_48699004delCGCCCGGCCTCGC	ENST00000164024.4	-	1	1344_1356	c.1064_1076delGCGAGGCCGGGCG	c.(1063-1077)ggcgaggccgggcgcfs	p.GEAGR355fs	RP11-148G20.1_ENST00000421275.1_RNA|CELSR3_ENST00000544264.1_Frame_Shift_Del_p.GEAGR355fs	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	355	Cadherin 1. {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)		GTAGACTAGGCGCCCGGCCTCGCCGGCGTCCGG	0.667																																																0																																										SO:0001589	frameshift_variant	1951			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3230	protein-coding gene	gene with protein product	"flamingo homolog 1 (Drosophila)"	604264	"cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.1064_1076delGCGAGGCCGGGCG	chr3.hg19:g.48698992_48699004delCGCCCGGCCTCGC	ENSP00000164024:p.Gly355fs		O75092	Frame_Shift_Del	DEL	ENST00000164024.4	hg19	CCDS2775.1																																																																																				0.667	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		-	48699004	CGCCCGGCCTCGC	-	48698992	7	5	798	1	0	1	0	1	0	0	0	0	3225	768	27	0	9002	0	CELSR3	3	48698992	Frame_Shift_Del	DEL	CGCCCGGCCTCGC	TCGA-UZ-A9PJ-01A-11D-A382-10		48698992	149323438	13	47536											
RBM15B	29890	hgsc.bcm.edu	37	3	51431303	51431303	+	Missense_Mutation	SNP	G	G	T			TCGA-UZ-A9PJ-01A-11D-A382-10	TCGA-UZ-A9PJ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	beb8581d-8471-4411-9521-4bf057f7d14a	b67bfe0e-ad19-4c1c-a9f3-cee65c1fee86	g.chr3:51431303G>T	ENST00000323686.4	+	1	2573	c.2473G>T	c.(2473-2475)Gtc>Ttc	p.V825F		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	825	Interaction with Epstein-Barr virus BMLF1.|SPOC. {ECO:0000255|PROSITE- ProRule:PRU00249}.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CAGGAACCTGGTCTCCTACTT	0.637																																																0													27	31	30					3																	51431303		2203	4300	6503	SO:0001583	missense	29890			AL831838	CCDS33764.1	3p21.1	2013-02-12			ENSG00000179837	ENSG00000259956		"RNA binding motif (RRM) containing"	24303	protein-coding gene	gene with protein product		612602				16129689	Standard	NM_013286		Approved	HUMAGCGB, OTT3	uc003dbd.3	Q8NDT2	OTTHUMG00000156896	ENST00000323686.4:c.2473G>T	chr3.hg19:g.51431303G>T	ENSP00000313890:p.Val825Phe		A4QPG7|Q6QE19|Q9BV96	Missense_Mutation	SNP	ENST00000323686.4	hg19	CCDS33764.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.484143	0.84854	.	.	ENSG00000179837	ENST00000323686;ENST00000540284;ENST00000541145;ENST00000536338	T	0.27890	1.64	5.95	5.95	0.96441	Spen Paralogue and Orthologue SPOC, C-terminal-like (2);Spen paralogue/orthologue C-terminal, metazoa (1);Spen paralogue and orthologue SPOC, C-terminal (1);	.	.	.	.	T	0.63721	0.2535	M	0.85542	2.76	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.66913	-0.5803	9	0.87932	D	0	-21.6876	20.3931	0.98965	0.0:0.0:1.0:0.0	.	825	Q8NDT2	RB15B_HUMAN	F	825;146;498;244	ENSP00000313890:V825F	ENSP00000313890:V825F	V	+	1	0	RBM15B	51406343	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.835000	0.99442	2.824000	0.97209	0.655000	0.94253	GTC		0.637	RBM15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346489.1	NM_013286		T	51431303	G	T	51431303	3	4	798	1	0	0	0	0	1	0	0	0	13123	1261	44	4	2475	4	RBM15B	3	51431303	Missense_Mutation	SNP	G	TCGA-UZ-A9PJ-01A-11D-A382-10	2732311	51431303	146591127	14	47537											
PBRM1	55193	hgsc.bcm.edu	37	3	52661338	52661338	+	Frame_Shift_Del	DEL	T	T	-			TCGA-UZ-A9PJ-01A-11D-A382-10	TCGA-UZ-A9PJ-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	beb8581d-8471-4411-9521-4bf057f7d14a	b67bfe0e-ad19-4c1c-a9f3-cee65c1fee86	g.chr3:52661338delT	ENST00000296302.7	-	13	1493	c.1492delA	c.(1492-1494)agcfs	p.S498fs	PBRM1_ENST00000409767.1_Frame_Shift_Del_p.S498fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.S498fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.S498fs|PBRM1_ENST00000356770.4_Frame_Shift_Del_p.S466fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.S498fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.S498fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.S498fs			Q86U86	PB1_HUMAN	polybromo 1	498					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)		GAGATCATGCTGTCTCCGTCC	0.448			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	0													150	133	139					3																	52661338		2203	4300	6503	SO:0001589	frameshift_variant	55193			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.1492delA	chr3.hg19:g.52661338delT	ENSP00000296302:p.Ser498fs		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	hg19																																																																																					0.448	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		-	52661338	T	-	52661338	7	5	798	1	0	1	0	1	0	0	0	0	11493	1580	55	0	3480	0	PBRM1	3	52661338	Frame_Shift_Del	DEL	T	TCGA-UZ-A9PJ-01A-11D-A382-10	1230035	52661338	145361092	15	47538											
ERC2	26059	hgsc.bcm.edu	37	3	55768837	55768837	+	Missense_Mutation	SNP	G	G	A	rs367719934		TCGA-UZ-A9PJ-01A-11D-A382-10	TCGA-UZ-A9PJ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	beb8581d-8471-4411-9521-4bf057f7d14a	b67bfe0e-ad19-4c1c-a9f3-cee65c1fee86	g.chr3:55768837G>A	ENST00000288221.6	-	15	2929	c.2674C>T	c.(2674-2676)Cgg>Tgg	p.R892W		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	892						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TCTTTTTCCCGCTTGAGGGCC	0.488																																																0													105	99	101					3																	55768837		1867	4112	5979	SO:0001583	missense	26059			AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.2674C>T	chr3.hg19:g.55768837G>A	ENSP00000288221:p.Arg892Trp		Q2T9F6|Q86TK4	Missense_Mutation	SNP	ENST00000288221.6	hg19	CCDS46851.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.752617	0.69533	.	.	ENSG00000187672	ENST00000288221	T	0.52526	0.66	5.67	2.82	0.32997	.	0.000000	0.85682	D	0.000000	T	0.67126	0.2860	M	0.71581	2.175	0.47737	D	0.999501	D	0.89917	1.0	D	0.79784	0.993	T	0.70831	-0.4765	10	0.87932	D	0	-10.8864	15.9917	0.80211	0.0:0.0:0.4556:0.5444	.	892	O15083	ERC2_HUMAN	W	892	ENSP00000288221:R892W	ENSP00000288221:R892W	R	-	1	2	ERC2	55743877	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.909000	0.39917	0.286000	0.22352	0.655000	0.94253	CGG		0.488	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576		A	55768837	G	A	55768837	3	1	798	1	0	0	0	0	1	0	0	0	5213	1086	38	1	211	1	ERC2	3	55768837	Missense_Mutation	SNP	G	TCGA-UZ-A9PJ-01A-11D-A382-10	3107499	55768837	142253593	16	47539											
POLN	353497	hgsc.bcm.edu	37	4	2087397	2087397	+	Missense_Mutation	SNP	T	T	G			TCGA-UZ-A9PJ-01A-11D-A382-10	TCGA-UZ-A9PJ-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	beb8581d-8471-4411-9521-4bf057f7d14a	b67bfe0e-ad19-4c1c-a9f3-cee65c1fee86	g.chr4:2087397T>G	ENST00000511885.2	-	21	2493	c.2140A>C	c.(2140-2142)Aag>Cag	p.K714Q	POLN_ENST00000382865.1_Missense_Mutation_p.K714Q			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	714					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)			TTCTTGTACTTCTGCAAAAAA	0.537								DNA polymerases (catalytic subunits)																																								0													93	96	95					4																	2087397		2203	4300	6503	SO:0001583	missense	353497			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.2140A>C	chr4.hg19:g.2087397T>G	ENSP00000435506:p.Lys714Gln		A2A336|B4E158|Q4TTW4|Q6ZNF4	Missense_Mutation	SNP	ENST00000511885.2	hg19	CCDS3360.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.75|15.75	2.925348|2.925348	0.52759|0.52759	.|.	.|.	ENSG00000130997|ENSG00000130997	ENST00000511885;ENST00000382865;ENST00000253313;ENST00000382857|ENST00000511098	D;D|.	0.96619|.	-4.07;-4.07|.	4.4|4.4	4.4|4.4	0.53042|0.53042	DNA-directed DNA polymerase, family A, palm domain (2);|.	0.135939|.	0.51477|.	D|.	0.000098|.	T|T	0.51176|0.51176	0.1659|0.1659	L|L	0.42487|0.42487	1.325|1.325	0.34686|0.34686	D|D	0.725274|0.725274	D;D;B|.	0.89917|.	1.0;0.998;0.382|.	D;D;B|.	0.77004|.	0.989;0.969;0.374|.	T|T	0.60767|0.60767	-0.7198|-0.7198	10|5	0.72032|.	D|.	0.01|.	-23.9851|-23.9851	10.2175|10.2175	0.43177|0.43177	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	245;405;714|.	C9JDP8;E9PE06;Q7Z5Q5|.	.;.;DPOLN_HUMAN|.	Q|S	714;714;405;245|346	ENSP00000435506:K714Q;ENSP00000372316:K714Q|.	ENSP00000253313:K405Q|.	K|R	-|-	1|3	0|2	POLN|POLN	2057195|2057195	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	4.234000|4.234000	0.58658|0.58658	1.962000|1.962000	0.57031|0.57031	0.528000|0.528000	0.53228|0.53228	AAG|AGA		0.537	POLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205684.2	NM_181808		G	2087397	T	G	2087397	3	3	798	1	0	0	0	0	1	0	0	0	12209	1792	62	5	586	5	POLN	4	2087397	Missense_Mutation	SNP	T	TCGA-UZ-A9PJ-01A-11D-A382-10		2087397	189066879	17	47540											
C4orf23	152992	hgsc.bcm.edu	37	4	8469719	8469719	+	Missense_Mutation	SNP	A	A	C			TCGA-UZ-A9PJ-01A-11D-A382-10	TCGA-UZ-A9PJ-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	beb8581d-8471-4411-9521-4bf057f7d14a	b67bfe0e-ad19-4c1c-a9f3-cee65c1fee86	g.chr4:8469719A>C	ENST00000389737.4	+	9	1573	c.1573A>C	c.(1573-1575)Aag>Cag	p.K525Q	TRMT44_ENST00000513449.2_Missense_Mutation_p.K284Q	NM_152544.2	NP_689757.2	Q8IYL2	TRM44_HUMAN	tRNA methyltransferase 44 homolog (S. cerevisiae)	525					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)										TCAGTACATTAAGAGCAGGCG	0.552																																																0													49	55	53					4																	8469719		2203	4300	6503	SO:0001583	missense	152992			AK093044	CCDS3402.1, CCDS3402.2	4p16.1	2012-06-12	2012-06-12	2012-06-12	ENSG00000155275	ENSG00000155275			26653	protein-coding gene	gene with protein product	"tRNA methyltransferase 44 homolog (S. cerevisiae)"	614309	"chromosome 4 open reading frame 23", "methyltransferase like 19"	C4orf23, METTL19		21658913	Standard	NM_152544		Approved	FLJ35725, TRM44	uc003glg.2	Q8IYL2	OTTHUMG00000160935	ENST00000389737.4:c.1573A>C	chr4.hg19:g.8469719A>C	ENSP00000374387:p.Lys525Gln		Q8NA95	Missense_Mutation	SNP	ENST00000389737.4	hg19	CCDS3402.2	.	.	.	.	.	.	.	.	.	.	A	9.766	1.171459	0.21621	.	.	ENSG00000155275	ENST00000513449;ENST00000389737;ENST00000285635	T;T	0.18016	2.24;2.24	5.18	0.253	0.15551	.	1.019340	0.07792	N	0.955045	T	0.11495	0.0280	N	0.19112	0.55	0.09310	N	1	B;B	0.12630	0.001;0.006	B;B	0.13407	0.009;0.007	T	0.38672	-0.9650	10	0.21014	T	0.42	-2.6415	11.5332	0.50622	0.2948:0.6278:0.0774:0.0	.	525;284	Q8IYL2;Q8IYL2-2	TRM44_HUMAN;.	Q	284;525;133	ENSP00000424643:K284Q;ENSP00000374387:K525Q	ENSP00000285635:K133Q	K	+	1	0	METTL19	8520619	0.001000	0.12720	0.000000	0.03702	0.217000	0.24651	0.531000	0.23052	0.163000	0.19507	0.533000	0.62120	AAG		0.552	TRMT44-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359197.2	NM_152544		C	8469719	A	C	8469719	3	2	798	1	0	0	0	0	1	0	0	0	2258	363	13	5	1607	5	C4orf23	4	8469719	Missense_Mutation	SNP	A	TCGA-UZ-A9PJ-01A-11D-A382-10	6382322	8469719	182684557	18	47541											
FASTKD3	79072	hgsc.bcm.edu	37	5	7867537	7867537	+	Silent	SNP	A	A	G			TCGA-UZ-A9PJ-01A-11D-A382-10	TCGA-UZ-A9PJ-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	beb8581d-8471-4411-9521-4bf057f7d14a	b67bfe0e-ad19-4c1c-a9f3-cee65c1fee86	g.chr5:7867537A>G	ENST00000264669.5	-	2	796	c.660T>C	c.(658-660)atT>atC	p.I220I	MTRR_ENST00000264668.2_5'Flank|MTRR_ENST00000440940.2_5'Flank|MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000341013.6_5'Flank	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	220					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						TTTCCCCAAGAATACAAAGAT	0.428																																																0													108	108	108					5																	7867537		2203	4300	6503	SO:0001819	synonymous_variant	79072			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.660T>C	chr5.hg19:g.7867537A>G			Q9BVD3	Silent	SNP	ENST00000264669.5	hg19	CCDS3873.1																																																																																				0.428	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253673.1	NM_024091		G	7867537	A	G	7867537	2	3	798	1	0	0	0	0	0	0	0	1	5689	242	9	3		3	FASTKD3	5	7867537	Silent	SNP	A	TCGA-UZ-A9PJ-01A-11D-A382-10		7867537	173047723	19	47542											
C5orf43	643155	hgsc.bcm.edu	37	5	60455870	60455870	+	Silent	SNP	T	T	C	rs140323722		TCGA-UZ-A9PJ-01A-11D-A382-10	TCGA-UZ-A9PJ-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	beb8581d-8471-4411-9521-4bf057f7d14a	b67bfe0e-ad19-4c1c-a9f3-cee65c1fee86	g.chr5:60455870T>C	ENST00000339020.3	-	3	554	c.129A>G	c.(127-129)aaA>aaG	p.K43K	CTC-436P18.1_ENST00000506902.1_RNA|SMIM15_ENST00000507416.1_Silent_p.K43K	NM_001048249.3	NP_001041714.1	Q7Z3B0	SIM15_HUMAN	small integral membrane protein 15	43						integral component of membrane (GO:0016021)											TCTTGGCCAATTTCCAAGACA	0.443																																																0								T		0,4406		0,0,2203	158	144	149		129	-1.3	0.9	5	dbSNP_134	149	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	C5orf43	NM_001048249.3		0,2,6501	CC,CT,TT		0.0233,0.0,0.0154		43/75	60455870	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	643155				CCDS34165.1	5q12	2013-06-21	2012-12-03	2012-12-03	ENSG00000188725	ENSG00000188725			33861	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 43"	C5orf43			Standard	NM_001048249		Approved	DKFZP686E2158	uc010iwm.1	Q7Z3B0	OTTHUMG00000162241	ENST00000339020.3:c.129A>G	chr5.hg19:g.60455870T>C			B9EJC4	Silent	SNP	ENST00000339020.3	hg19	CCDS34165.1																																																																																				0.443	SMIM15-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368078.1	NM_001048249		C	60455870	T	C	60455870	2	2	798	1	0	0	0	0	0	0	0	1	2304	1490	52	3		3	C5orf43	5	60455870	Silent	SNP	T	TCGA-UZ-A9PJ-01A-11D-A382-10	52588333	60455870	120459390	20	47543											
CCDC99	54908	hgsc.bcm.edu	37	5	169026069	169026069	+	Silent	SNP	T	T	G			TCGA-UZ-A9PJ-01A-11D-A382-10	TCGA-UZ-A9PJ-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	beb8581d-8471-4411-9521-4bf057f7d14a	b67bfe0e-ad19-4c1c-a9f3-cee65c1fee86	g.chr5:169026069T>G	ENST00000265295.4	+	10	1509	c.1230T>G	c.(1228-1230)ctT>ctG	p.L410L		NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1																		AGCGAAAACTTTTTGCAAATG	0.353																																																0													49	51	51					5																	169026069		2203	4300	6503	SO:0001819	synonymous_variant	54908			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.1230T>G	chr5.hg19:g.169026069T>G				Silent	SNP	ENST00000265295.4	hg19	CCDS4370.1																																																																																				0.353	SPDL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252829.2	NM_017785		G	169026069	T	G	169026069	2	3	798	1	0	0	0	0	0	0	0	1	2878	1828	64	5		5	CCDC99	5	169026069	Silent	SNP	T	TCGA-UZ-A9PJ-01A-11D-A382-10	108570199	169026069	11889191	21	47544											
CANX	821	hgsc.bcm.edu	37	5	179132798	179132798	+	Missense_Mutation	SNP	T	T	G			TCGA-UZ-A9PJ-01A-11D-A382-10	TCGA-UZ-A9PJ-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	beb8581d-8471-4411-9521-4bf057f7d14a	b67bfe0e-ad19-4c1c-a9f3-cee65c1fee86	g.chr5:179132798T>G	ENST00000247461.4	+	2	316	c.116T>G	c.(115-117)aTt>aGt	p.I39S	CANX_ENST00000452673.2_Missense_Mutation_p.I39S|CANX_ENST00000512607.2_De_novo_Start_OutOfFrame|CANX_ENST00000504734.1_Missense_Mutation_p.I39S|CANX_ENST00000415618.2_Missense_Mutation_p.I74S	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	calnexin	39					aging (GO:0007568)|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)|chaperone-mediated protein folding (GO:0061077)|clathrin-mediated endocytosis (GO:0072583)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein secretion (GO:0009306)|synaptic vesicle endocytosis (GO:0048488)	axon (GO:0030424)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ribosome (GO:0005840)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Antihemophilic Factor(DB00025)|Tenecteplase(DB00031)	gacgatgtcattgaagaggta	0.413																																																0													416	340	366					5																	179132798		2203	4300	6503	SO:0001583	missense	821			L18887	CCDS4447.1	5q35	2008-07-18			ENSG00000127022	ENSG00000127022			1473	protein-coding gene	gene with protein product	"major histocompatibility complex class I antigen-binding protein p88"	114217				1326756, 8136357	Standard	NM_001746		Approved	CNX, IP90, P90	uc003mkl.3	P27824	OTTHUMG00000130910	ENST00000247461.4:c.116T>G	chr5.hg19:g.179132798T>G	ENSP00000247461:p.Ile39Ser		B2R5V8|B4DGP8|B4E2T8|D3DWQ3|D6R9K3	Missense_Mutation	SNP	ENST00000247461.4	hg19	CCDS4447.1	.	.	.	.	.	.	.	.	.	.	T	15.48	2.847345	0.51164	.	.	ENSG00000127022	ENST00000514383;ENST00000502296;ENST00000504734;ENST00000415618;ENST00000452673;ENST00000247461;ENST00000502498;ENST00000507307;ENST00000502673;ENST00000513246;ENST00000354394;ENST00000376953	T;T;T;T;D;T	0.82433	0.81;0.79;0.81;0.81;-1.61;0.14	4.57	4.57	0.56435	.	0.541869	0.20879	N	0.084024	T	0.65616	0.2708	N	0.04959	-0.14	0.80722	D	1	B;B;B	0.30236	0.001;0.274;0.001	B;B;B	0.32762	0.001;0.152;0.001	T	0.63051	-0.6723	10	0.21540	T	0.41	-9.4725	10.4884	0.44735	0.0:0.0:0.0:1.0	.	74;39;39	B4DGP8;Q6ZP56;P27824	.;.;CALX_HUMAN	S	39;39;39;74;39;39;39;39;39;39;31;39	ENSP00000424063:I39S;ENSP00000394817:I74S;ENSP00000391646:I39S;ENSP00000247461:I39S;ENSP00000425246:I39S;ENSP00000421107:I39S	ENSP00000247461:I39S	I	+	2	0	CANX	179065404	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.122000	0.50446	2.035000	0.60131	0.459000	0.35465	ATT		0.413	CANX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253500.2	NM_001024649		G	179132798	T	G	179132798	3	3	798	1	0	0	0	0	1	0	0	0	2620	1493	52	5	118	5	CANX	5	179132798	Missense_Mutation	SNP	T	TCGA-UZ-A9PJ-01A-11D-A382-10	10106729	179132798	1782462	22	47545											
GFPT2	9945	hgsc.bcm.edu	37	5	179758509	179758509	+	Silent	SNP	G	G	A			TCGA-UZ-A9PJ-01A-11D-A382-10	TCGA-UZ-A9PJ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	beb8581d-8471-4411-9521-4bf057f7d14a	b67bfe0e-ad19-4c1c-a9f3-cee65c1fee86	g.chr5:179758509G>A	ENST00000253778.8	-	5	554	c.385C>T	c.(385-387)Ctg>Ttg	p.L129L		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	129	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glutamine metabolic process (GO:0006541)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	AATTTCCTCAGATCTTTGTAA	0.428																																																0													80	79	79					5																	179758509		1837	4094	5931	SO:0001819	synonymous_variant	9945			AB016789	CCDS43411.1	5q	2008-07-18			ENSG00000131459	ENSG00000131459			4242	protein-coding gene	gene with protein product	"glutamine: fructose-6-phosphate aminotransferase 2"	603865				10198162	Standard	NM_005110		Approved	GFAT2	uc003mlw.1	O94808	OTTHUMG00000163442	ENST00000253778.8:c.385C>T	chr5.hg19:g.179758509G>A			Q53XM2|Q9BWS4	Silent	SNP	ENST00000253778.8	hg19	CCDS43411.1																																																																																				0.428	GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373444.4	NM_005110		A	179758509	G	A	179758509	2	1	798	1	0	0	0	0	0	0	0	1	6348	933	33	2		2	GFPT2	5	179758509	Silent	SNP	G	TCGA-UZ-A9PJ-01A-11D-A382-10	625711	179758509	1156751	23	47546											
BPHL	670	hgsc.bcm.edu	37	6	3119054	3119059	+	In_Frame_Del	DEL	CACGGG	CACGGG	-			TCGA-UZ-A9PJ-01A-11D-A382-10	TCGA-UZ-A9PJ-10A-01D-A385-10	CACGGG	CACGGG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	beb8581d-8471-4411-9521-4bf057f7d14a	b67bfe0e-ad19-4c1c-a9f3-cee65c1fee86	g.chr6:3119054_3119059delCACGGG	ENST00000380379.5	+	1	129_134	c.80_85delCACGGG	c.(79-87)ccacgggcc>ccc	p.RA28del	BPHL_ENST00000380368.2_5'UTR|BPHL_ENST00000380375.3_5'UTR|BPHL_ENST00000434640.1_Intron	NM_004332.2	NP_004323.2	Q86WA6	BPHL_HUMAN	biphenyl hydrolase-like (serine hydrolase)	28					cellular amino acid metabolic process (GO:0006520)|response to toxic substance (GO:0009636)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)	13	Ovarian(93;0.0386)	all_hematologic(90;0.108)				ATCCACGTCCCACGGGCCGGACCCGC	0.752																																																0																																										SO:0001651	inframe_deletion	670			X81372	CCDS4483.2	6p25	2008-08-29	2008-08-29		ENSG00000137274	ENSG00000137274			1094	protein-coding gene	gene with protein product	"breast epithelial mucin-associated antigen"	603156		MCNAA		7759552, 9721218, 15832508	Standard	NM_004332		Approved	Bph-rp	uc003mva.3	Q86WA6	OTTHUMG00000014140	ENST00000380379.5:c.80_85delCACGGG	chr6.hg19:g.3119054_3119059delCACGGG	ENSP00000369739:p.Arg28_Ala29del		Q00306|Q13855|Q3KP51	In_Frame_Del	DEL	ENST00000380379.5	hg19	CCDS4483.2																																																																																				0.752	BPHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039670.5			-	3119059	CACGGG	-	3119054	7	5	798	1	0	1	0	1	0	0	0	0	1491	594	21	0	82	0	BPHL	6	3119054	In_Frame_Del	DEL	CACGGG	TCGA-UZ-A9PJ-01A-11D-A382-10		3119054	167996013	24	47547											
HLA-G	3135	hgsc.bcm.edu	37	6	29797430	29797430	+	Silent	SNP	G	G	T			TCGA-UZ-A9PJ-01A-11D-A382-10	TCGA-UZ-A9PJ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	beb8581d-8471-4411-9521-4bf057f7d14a	b67bfe0e-ad19-4c1c-a9f3-cee65c1fee86	g.chr6:29797430G>T	ENST00000360323.6	+	4	879	c.855G>T	c.(853-855)gtG>gtT	p.V285V	HLA-G_ENST00000376815.3_Intron|HLA-G_ENST00000376818.3_Silent_p.V193V|HLA-G_ENST00000376828.2_Silent_p.V290V|HLA-G_ENST00000428701.1_Silent_p.V285V			P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	285	Alpha-3.|Ig-like C1-type.				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)|cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						CGTGCCATGTGCAGCATGAGG	0.592																																																0													58	58	58					6																	29797430		2203	4300	6503	SO:0001819	synonymous_variant	3135				CCDS4668.1	6p21.3	2013-01-11	2007-12-12		ENSG00000204632	ENSG00000204632		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4964	protein-coding gene	gene with protein product	"b2 microglobulin"	142871	"HLA-G histocompatibility antigen, class I, G"				Standard	NM_002127		Approved		uc003nnw.2	P17693	OTTHUMG00000031157	ENST00000360323.6:c.855G>T	chr6.hg19:g.29797430G>T				Silent	SNP	ENST00000360323.6	hg19	CCDS4668.1																																																																																				0.592	HLA-G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076286.2	NM_002127		T	29797430	G	T	29797430	2	4	798	1	0	0	0	0	0	0	0	1	7214	1306	46	4		4	HLA-G	6	29797430	Silent	SNP	G	TCGA-UZ-A9PJ-01A-11D-A382-10	26678376	29797430	141317637	25	47548											
CRIP3	401262	hgsc.bcm.edu	37	6	43275411	43275411	+	Silent	SNP	A	A	G			TCGA-UZ-A9PJ-01A-11D-A382-10	TCGA-UZ-A9PJ-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	beb8581d-8471-4411-9521-4bf057f7d14a	b67bfe0e-ad19-4c1c-a9f3-cee65c1fee86	g.chr6:43275411A>G	ENST00000274990.4	-	4	271	c.267T>C	c.(265-267)ccT>ccC	p.P89P	CRIP3_ENST00000372569.3_Silent_p.P89P|ZNF318_ENST00000607252.1_5'UTR			Q6Q6R5	CRIP3_HUMAN	cysteine-rich protein 3	89					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)			TGGGGCTGAGAGGAGTGGTGC	0.612																																																0													48	52	51					6																	43275411		2203	4300	6503	SO:0001819	synonymous_variant	401262			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.267T>C	chr6.hg19:g.43275411A>G			A2A436|Q5T043|Q6Q6R4|Q6Q6R6|Q6Q6R7	Silent	SNP	ENST00000274990.4	hg19		.	.	.	.	.	.	.	.	.	.	A	7.649	0.682533	0.14907	.	.	ENSG00000146215	ENST00000416431	.	.	.	5.28	2.51	0.30379	.	.	.	.	.	T	0.37732	0.1014	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22977	-1.0201	4	.	.	.	-37.293	5.0692	0.14598	0.2608:0.1501:0.5891:0.0	.	.	.	.	P	37	.	.	S	-	1	0	CRIP3	43383389	0.993000	0.37304	0.924000	0.36721	0.731000	0.41821	1.442000	0.35046	0.304000	0.22809	-0.242000	0.12053	TCT		0.612	CRIP3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000313968.1			G	43275411	A	G	43275411	2	3	798	1	0	0	0	0	0	0	0	1	3878	291	11	3		3	CRIP3	6	43275411	Silent	SNP	A	TCGA-UZ-A9PJ-01A-11D-A382-10	13477981	43275411	127839656	26	47549											
IGF2R	3482	hgsc.bcm.edu	37	6	160467612	160467612	+	Silent	SNP	T	T	C			TCGA-UZ-A9PJ-01A-11D-A382-10	TCGA-UZ-A9PJ-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	beb8581d-8471-4411-9521-4bf057f7d14a	b67bfe0e-ad19-4c1c-a9f3-cee65c1fee86	g.chr6:160467612T>C	ENST00000356956.1	+	15	2134	c.1986T>C	c.(1984-1986)aaT>aaC	p.N662N		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	662					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	TTTATATAAATGTGTGTGGCC	0.423																																																0													71	80	77					6																	160467612		2203	4300	6503	SO:0001819	synonymous_variant	3482			J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"CD molecules"	5467	protein-coding gene	gene with protein product	"cation-independent mannose-6 phosphate receptor"	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.1986T>C	chr6.hg19:g.160467612T>C			Q7Z7G9|Q96PT5	Silent	SNP	ENST00000356956.1	hg19	CCDS5273.1																																																																																				0.423	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		C	160467612	T	C	160467612	2	2	798	1	0	0	0	0	0	0	0	1	7578	1461	51	3		3	IGF2R	6	160467612	Silent	SNP	T	TCGA-UZ-A9PJ-01A-11D-A382-10	117192201	160467612	10647455	27	47550											
PHF10	55274	hgsc.bcm.edu	37	6	170112545	170112545	+	Missense_Mutation	SNP	A	A	T			TCGA-UZ-A9PJ-01A-11D-A382-10	TCGA-UZ-A9PJ-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	beb8581d-8471-4411-9521-4bf057f7d14a	b67bfe0e-ad19-4c1c-a9f3-cee65c1fee86	g.chr6:170112545A>T	ENST00000339209.4	-	8	1017	c.894T>A	c.(892-894)gaT>gaA	p.D298E	PHF10_ENST00000366780.4_Missense_Mutation_p.D296E	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN	PHD finger protein 10	298	Essential to induce neural progenitor proliferation. {ECO:0000250}.				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)		CTGAATCACCATCACTGTCTA	0.478																																																0													161	158	159					6																	170112545		2203	4300	6503	SO:0001583	missense	55274			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.894T>A	chr6.hg19:g.170112545A>T	ENSP00000341805:p.Asp298Glu		Q2YDA3|Q53HG8|Q9BXD2|Q9NV26	Missense_Mutation	SNP	ENST00000339209.4	hg19	CCDS5308.2	.	.	.	.	.	.	.	.	.	.	a	13.28	2.190749	0.38707	.	.	ENSG00000130024	ENST00000366780;ENST00000339209	D;D	0.87650	-2.28;-2.27	5.35	-7.28	0.01456	.	0.095024	0.64402	N	0.000001	T	0.60117	0.2244	L	0.35723	1.085	0.44754	D	0.997758	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.09377	0.004;0.002;0.001	T	0.15983	-1.0418	10	0.25751	T	0.34	-18.3504	9.5202	0.39131	0.4785:0.1052:0.4163:0.0	.	210;296;298	Q5T069;Q8WUB8-2;Q8WUB8	.;.;PHF10_HUMAN	E	296;298	ENSP00000355743:D296E;ENSP00000341805:D298E	ENSP00000341805:D298E	D	-	3	2	PHF10	169854470	0.012000	0.17670	0.491000	0.27477	0.856000	0.48823	-0.917000	0.04025	-1.277000	0.02411	-1.413000	0.01118	GAT		0.478	PHF10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346732.1	NM_018288		T	170112545	A	T	170112545	3	4	798	1	0	0	0	0	1	0	0	0	11823	214	8	5	622	5	PHF10	6	170112545	Missense_Mutation	SNP	A	TCGA-UZ-A9PJ-01A-11D-A382-10	9644933	170112545	1002522	28	47551											
MET	4233	hgsc.bcm.edu	37	7	116417457	116417457	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9PJ-01A-11D-A382-10	TCGA-UZ-A9PJ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	beb8581d-8471-4411-9521-4bf057f7d14a	b67bfe0e-ad19-4c1c-a9f3-cee65c1fee86	g.chr7:116417457G>A	ENST00000318493.6	+	16	3515	c.3328G>A	c.(3328-3330)Gta>Ata	p.V1110I	MET_ENST00000539704.1_5'UTR|MET_ENST00000397752.3_Missense_Mutation_p.V1092I			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)			TTTTGGTTGTGTATATCATGG	0.338			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																														Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	0			GRCh37	CM990852	MET	M							191	176	180					7																	116417457		1827	4084	5911	SO:0001583	missense	4233	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	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.3328G>A	chr7.hg19:g.116417457G>A	ENSP00000317272:p.Val1110Ile		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	hg19	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.834124	0.91036	.	.	ENSG00000105976	ENST00000397752;ENST00000318493	T;T	0.64991	-0.13;-0.13	5.16	5.16	0.70880	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	0.81178	0.4768	M	0.80422	2.495	0.80722	D	1	D;D	0.76494	0.999;0.99	D;D	0.85130	0.997;0.99	D	0.83726	0.0195	10	0.87932	D	0	.	19.0107	0.92871	0.0:0.0:1.0:0.0	.	1110;1092	P08581-2;P08581	.;MET_HUMAN	I	1092;1110	ENSP00000380860:V1092I;ENSP00000317272:V1110I	ENSP00000317272:V1110I	V	+	1	0	MET	116204693	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.813000	0.99286	2.560000	0.86352	0.563000	0.77884	GTA		0.338	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			A	116417457	G	A	116417457	3	1	798	1	0	0	0	0	1	0	0	0	9487	1377	48	2	3386	2	MET	7	116417457	Missense_Mutation	SNP	G	TCGA-UZ-A9PJ-01A-11D-A382-10		116417457	42721206	29	47552											
NUP205	23165	hgsc.bcm.edu	37	7	135255937	135255937	+	Missense_Mutation	SNP	T	T	G			TCGA-UZ-A9PJ-01A-11D-A382-10	TCGA-UZ-A9PJ-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	beb8581d-8471-4411-9521-4bf057f7d14a	b67bfe0e-ad19-4c1c-a9f3-cee65c1fee86	g.chr7:135255937T>G	ENST00000285968.6	+	2	139	c.113T>G	c.(112-114)cTt>cGt	p.L38R	NUP205_ENST00000440390.2_5'UTR|NUP205_ENST00000489493.1_3'UTR	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	38					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						GCTGTTCACCTTCTTGATAAG	0.333																																																0													84	85	85					7																	135255937		2203	4300	6503	SO:0001583	missense	23165			D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"chromosome 7 open reading frame 14"	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.113T>G	chr7.hg19:g.135255937T>G	ENSP00000285968:p.Leu38Arg		A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	hg19	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	T	9.099	1.003717	0.19121	.	.	ENSG00000155561	ENST00000285968	T	0.28069	1.63	5.44	5.44	0.79542	.	0.294988	0.35291	N	0.003315	T	0.15565	0.0375	N	0.16478	0.41	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.13683	-1.0500	10	0.10636	T	0.68	-16.5036	7.0046	0.24830	0.0:0.0783:0.1626:0.7591	.	38	Q92621	NU205_HUMAN	R	38	ENSP00000285968:L38R	ENSP00000285968:L38R	L	+	2	0	NUP205	134906477	1.000000	0.71417	0.998000	0.56505	0.870000	0.49936	2.571000	0.45990	2.069000	0.61940	0.477000	0.44152	CTT		0.333	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			G	135255937	T	G	135255937	3	3	798	1	0	0	0	0	1	0	0	0	10761	1609	56	5	119	5	NUP205	7	135255937	Missense_Mutation	SNP	T	TCGA-UZ-A9PJ-01A-11D-A382-10	18838480	135255937	23882726	30	47553											
POLB	5423	hgsc.bcm.edu	37	8	42218840	42218840	+	Missense_Mutation	SNP	T	T	C			TCGA-UZ-A9PJ-01A-11D-A382-10	TCGA-UZ-A9PJ-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	beb8581d-8471-4411-9521-4bf057f7d14a	b67bfe0e-ad19-4c1c-a9f3-cee65c1fee86	g.chr8:42218840T>C	ENST00000265421.4	+	10	748	c.578T>C	c.(577-579)gTt>gCt	p.V193A	POLB_ENST00000538005.1_Missense_Mutation_p.V39A	NM_002690.2	NP_002681.1	P06746	DPOLB_HUMAN	polymerase (DNA directed), beta	193					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)	GACATGGATGTTCTCCTGACC	0.428								DNA polymerases (catalytic subunits)																																								0													172	144	153					8																	42218840		2203	4300	6503	SO:0001583	missense	5423				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.578T>C	chr8.hg19:g.42218840T>C	ENSP00000265421:p.Val193Ala		B2RC78|Q3KP48|Q6FI34	Missense_Mutation	SNP	ENST00000265421.4	hg19	CCDS6129.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.75|15.75	2.926490|2.926490	0.52759|0.52759	.|.	.|.	ENSG00000070501|ENSG00000070501	ENST00000518579;ENST00000517393|ENST00000265421;ENST00000520008;ENST00000518925;ENST00000538005	.|T;T;T;T	.|0.36340	.|1.26;1.26;1.26;1.26	5.58|5.58	5.58|5.58	0.84498|0.84498	.|DNA-directed DNA polymerase X (1);	.|0.168551	.|0.51477	.|D	.|0.000087	T|T	0.34716|0.34716	0.0907|0.0907	L|L	0.50993|0.50993	1.605|1.605	0.52099|0.52099	D|D	0.999946|0.999946	.|B;B	.|0.10296	.|0.002;0.003	.|B;B	.|0.16289	.|0.012;0.015	T|T	0.09143|0.09143	-1.0688|-1.0688	5|10	.|0.42905	.|T	.|0.14	-10.0579|-10.0579	13.6995|13.6995	0.62599|0.62599	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|193;193	.|Q53EV2;P06746	.|.;DPOLB_HUMAN	L|A	51;9|193;39;228;39	.|ENSP00000265421:V193A;ENSP00000430610:V39A;ENSP00000430784:V228A;ENSP00000440497:V39A	.|ENSP00000265421:V193A	F|V	+|+	1|2	0|0	POLB|POLB	42337997|42337997	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.018000|0.018000	0.09664|0.09664	7.846000|7.846000	0.86887|0.86887	2.124000|2.124000	0.65301|0.65301	0.460000|0.460000	0.39030|0.39030	TTC|GTT		0.428	POLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377242.1	NM_002690		C	42218840	T	C	42218840	3	2	798	1	0	0	0	0	1	0	0	0	12191	1725	60	3	616	3	POLB	8	42218840	Missense_Mutation	SNP	T	TCGA-UZ-A9PJ-01A-11D-A382-10		42218840	104145182	31	47554											
ZFHX4	79776	hgsc.bcm.edu	37	8	77775575	77775575	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9PJ-01A-11D-A382-10	TCGA-UZ-A9PJ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	beb8581d-8471-4411-9521-4bf057f7d14a	b67bfe0e-ad19-4c1c-a9f3-cee65c1fee86	g.chr8:77775575G>A	ENST00000521891.2	+	11	10073	c.9625G>A	c.(9625-9627)Gcc>Acc	p.A3209T	ZFHX4_ENST00000455469.2_Missense_Mutation_p.A3164T|ZFHX4_ENST00000518282.1_Missense_Mutation_p.A3183T|ZFHX4_ENST00000050961.6_Missense_Mutation_p.A3160T	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3160					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)			GGAATTAGAGGCCACCAAACC	0.418										HNSCC(33;0.089)																																						0													109	107	107					8																	77775575		1873	4111	5984	SO:0001583	missense	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.9625G>A	chr8.hg19:g.77775575G>A	ENSP00000430497:p.Ala3209Thr		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	hg19	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	7.146	0.582749	0.13749	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.50813	0.73;0.78;0.77;0.74	4.71	2.61	0.31194	.	0.176572	0.26931	U	0.021774	T	0.27419	0.0673	N	0.12182	0.205	0.36396	D	0.862813	B	0.06786	0.001	B	0.06405	0.002	T	0.17561	-1.0365	10	0.39692	T	0.17	.	10.0281	0.42083	0.2015:0.0:0.7985:0.0	.	3164	Q86UP3-4	.	T	3209;3193;3164;3160;3183	ENSP00000430497:A3209T;ENSP00000399605:A3164T;ENSP00000050961:A3160T;ENSP00000430848:A3183T	ENSP00000050961:A3160T	A	+	1	0	ZFHX4	77938130	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	2.398000	0.44486	1.084000	0.41184	0.561000	0.74099	GCC		0.418	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		A	77775575	G	A	77775575	3	1	798	1	0	0	0	0	1	0	0	0	17640	1203	42	2	9663	2	ZFHX4	8	77775575	Missense_Mutation	SNP	G	TCGA-UZ-A9PJ-01A-11D-A382-10	35556735	77775575	68588447	32	47555											
HRSP12	10247	hgsc.bcm.edu	37	8	99118223	99118223	+	Missense_Mutation	SNP	T	T	C			TCGA-UZ-A9PJ-01A-11D-A382-10	TCGA-UZ-A9PJ-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	beb8581d-8471-4411-9521-4bf057f7d14a	b67bfe0e-ad19-4c1c-a9f3-cee65c1fee86	g.chr8:99118223T>C	ENST00000254878.3	-	4	382	c.238A>G	c.(238-240)Act>Gct	p.T80A		NM_005836.2	NP_005827.1	P52758	UK114_HUMAN	heat-responsive protein 12	80					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)			AGAAGAACAGTTGTTTTCACC	0.308																																																0													156	154	154					8																	99118223		2202	4300	6502	SO:0001583	missense	10247			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.238A>G	chr8.hg19:g.99118223T>C	ENSP00000254878:p.Thr80Ala		Q6FHU9|Q6IBG0	Missense_Mutation	SNP	ENST00000254878.3	hg19	CCDS6276.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.3|21.3	4.135850|4.135850	0.77662|0.77662	.|.	.|.	ENSG00000132541|ENSG00000132541	ENST00000520507|ENST00000254878	.|.	.|.	.|.	5.53|5.53	5.53|5.53	0.82687|0.82687	.|Endoribonuclease L-PSP/chorismate mutase-like (2);	.|0.050056	.|0.85682	.|D	.|0.000000	T|T	0.80138|0.80138	0.4568|0.4568	H|H	0.98487|0.98487	4.245|4.245	0.80722|0.80722	D|D	1|1	.|P	.|0.34826	.|0.471	.|B	.|0.35510	.|0.204	D|D	0.84843|0.84843	0.0809|0.0809	5|9	.|0.72032	.|D	.|0.01	.|.	13.1896|13.1896	0.59702|0.59702	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|80	.|P52758	.|UK114_HUMAN	S|A	90|80	.|.	.|ENSP00000254878:T80A	N|T	-|-	2|1	0|0	HRSP12|HRSP12	99187399|99187399	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.954000|0.954000	0.61252|0.61252	6.663000|6.663000	0.74431|0.74431	2.110000|2.110000	0.64415|0.64415	0.379000|0.379000	0.24179|0.24179	AAC|ACT		0.308	HRSP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379687.1	NM_005836		C	99118223	T	C	99118223	3	2	798	1	0	0	0	0	1	0	0	0	7362	1725	60	3	187	3	HRSP12	8	99118223	Missense_Mutation	SNP	T	TCGA-UZ-A9PJ-01A-11D-A382-10	21342648	99118223	47245799	33	47556											
RNF19A	25897	hgsc.bcm.edu	37	8	101299802	101299803	+	Frame_Shift_Ins	INS	-	-	T			TCGA-UZ-A9PJ-01A-11D-A382-10	TCGA-UZ-A9PJ-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	beb8581d-8471-4411-9521-4bf057f7d14a	b67bfe0e-ad19-4c1c-a9f3-cee65c1fee86	g.chr8:101299802_101299803insT	ENST00000519449.1	-	3	916_917	c.600_601insA	c.(598-603)aaatacfs	p.Y201fs	RNF19A_ENST00000341084.2_Frame_Shift_Ins_p.Y201fs	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	201					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)			AATTCTTCGTATTTTTCCATCA	0.386																																																0																																										SO:0001589	frameshift_variant	25897			AB029316	CCDS6286.1	8q22	2013-10-03	2013-10-03	2007-08-20		ENSG00000034677		"RING-type (C3HC4) zinc fingers"	13432	protein-coding gene	gene with protein product		607119	"ring finger protein 19", "ring finger protein 19A", "ring finger protein 19A, E3 ubiquitin protein ligase"	RNF19		11237715, 10976766	Standard	NM_183419		Approved	dorfin, DKFZp566B1346	uc003yjj.1	Q9NV58		ENST00000519449.1:c.601dupA	chr8.hg19:g.101299807_101299807dupT	ENSP00000428968:p.Tyr201fs		A3KCU9|Q52LG1|Q9H5H9|Q9H8M8|Q9UFG0|Q9UFX6|Q9Y4Y1	Frame_Shift_Ins	INS	ENST00000519449.1	hg19	CCDS6286.1																																																																																				0.386	RNF19A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380004.1	NM_015435		T	101299803	-	T	101299802	7	5	798	1	0	1	1	0	0	0	0	0	13476	449	16	0	1951	0	RNF19A	8	101299802	Frame_Shift_Ins	INS	-	TCGA-UZ-A9PJ-01A-11D-A382-10	2181579	101299802	45064220	34	47557											
RIMS2	9699	hgsc.bcm.edu	37	8	104924308	104924308	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9PJ-01A-11D-A382-10	TCGA-UZ-A9PJ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	beb8581d-8471-4411-9521-4bf057f7d14a	b67bfe0e-ad19-4c1c-a9f3-cee65c1fee86	g.chr8:104924308G>A	ENST00000436393.2	+	4	1295	c.1054G>A	c.(1054-1056)Gat>Aat	p.D352N	RIMS2_ENST00000406091.3_Missense_Mutation_p.D574N|RIMS2_ENST00000262231.10_Missense_Mutation_p.D429N|RIMS2_ENST00000507740.1_Missense_Mutation_p.D382N			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	652					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)			ACCATCTAAAGATGGAGATCG	0.328										HNSCC(12;0.0054)																																						0													109	105	107					8																	104924308		1824	4085	5909	SO:0001583	missense	9699			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.1054G>A	chr8.hg19:g.104924308G>A	ENSP00000390665:p.Asp352Asn		B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	hg19		.	.	.	.	.	.	.	.	.	.	G	34	5.311317	0.95655	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T;T	0.22945	1.93;2.4;2.08;2.11;2.11;2.04;2.36	5.92	5.92	0.95590	PDZ/DHR/GLGF (1);	.	.	.	.	T	0.46946	0.1419	L	0.43923	1.385	0.80722	D	1	P;D;P;D;D	0.71674	0.623;0.976;0.887;0.998;0.998	P;D;D;D;D	0.85130	0.559;0.99;0.937;0.997;0.997	T	0.16867	-1.0388	9	0.49607	T	0.09	.	20.3343	0.98733	0.0:0.0:1.0:0.0	.	652;352;429;382;574	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	N	574;605;574;652;382;429;382;382;352	ENSP00000427018:D574N;ENSP00000384892:D574N;ENSP00000425205:D382N;ENSP00000262231:D429N;ENSP00000423559:D382N;ENSP00000386228:D382N;ENSP00000390665:D352N	ENSP00000262231:D429N	D	+	1	0	RIMS2	104993484	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.822000	0.97130	0.650000	0.86243	GAT		0.328	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		A	104924308	G	A	104924308	3	1	798	1	0	0	0	0	1	0	0	0	13374	942	33	2	1868	2	RIMS2	8	104924308	Missense_Mutation	SNP	G	TCGA-UZ-A9PJ-01A-11D-A382-10	3624506	104924308	41439714	35	47558											
STX17	55014	hgsc.bcm.edu	37	9	102691077	102691077	+	Silent	SNP	C	C	A			TCGA-UZ-A9PJ-01A-11D-A382-10	TCGA-UZ-A9PJ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	beb8581d-8471-4411-9521-4bf057f7d14a	b67bfe0e-ad19-4c1c-a9f3-cee65c1fee86	g.chr9:102691077C>A	ENST00000259400.6	+	3	277	c.141C>A	c.(139-141)atC>atA	p.I47I	STX17_ENST00000534052.1_Silent_p.I47I|STX17_ENST00000525640.1_Silent_p.I47I|RP11-60I3.4_ENST00000524512.1_RNA	NM_017919.2	NP_060389.2	P56962	STX17_HUMAN	syntaxin 17	47					autophagic vacuole fusion (GO:0000046)|endoplasmic reticulum-Golgi intermediate compartment organization (GO:0097111)|ER to Golgi vesicle-mediated transport (GO:0006888)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|protein localization to pre-autophagosomal structure (GO:0034497)	autophagic vacuole membrane (GO:0000421)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|ER to Golgi transport vesicle (GO:0030134)|ER-mitochondrion membrane contact site (GO:0044233)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|smooth endoplasmic reticulum membrane (GO:0030868)|SNARE complex (GO:0031201)	protein phosphatase binding (GO:0019903)|SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				GGTGCAGAATCTGGGACAAGT	0.358																																																0													84	87	86					9																	102691077		2203	4300	6503	SO:0001819	synonymous_variant	55014			AL834371	CCDS6745.1	9q31.1	2008-02-05			ENSG00000136874	ENSG00000136874			11432	protein-coding gene	gene with protein product		604204				9852078	Standard	NM_017919		Approved	FLJ20651	uc004bal.4	P56962	OTTHUMG00000020359	ENST00000259400.6:c.141C>A	chr9.hg19:g.102691077C>A			Q4VXC2	Silent	SNP	ENST00000259400.6	hg19	CCDS6745.1																																																																																				0.358	STX17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053398.3	NM_017919		A	102691077	C	A	102691077	2	1	798	1	0	0	0	0	0	0	0	1	15345	903	32	4		4	STX17	9	102691077	Silent	SNP	C	TCGA-UZ-A9PJ-01A-11D-A382-10		102691077	38522354	36	47559											
C9orf86	55684	hgsc.bcm.edu	37	9	139730244	139730244	+	Silent	SNP	C	C	T			TCGA-UZ-A9PJ-01A-11D-A382-10	TCGA-UZ-A9PJ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	beb8581d-8471-4411-9521-4bf057f7d14a	b67bfe0e-ad19-4c1c-a9f3-cee65c1fee86	g.chr9:139730244C>T	ENST00000311502.7	+	8	992	c.756C>T	c.(754-756)gcC>gcT	p.A252A	RABL6_ENST00000357466.2_Silent_p.A252A|RABL6_ENST00000371675.3_Silent_p.A137A|RABL6_ENST00000466096.1_3'UTR|RABL6_ENST00000371663.4_Silent_p.A253A|RABL6_ENST00000432842.2_Silent_p.A214A			Q3YEC7	RABL6_HUMAN	RAB, member RAS oncogene family-like 6	252	Small GTPase-like.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)										ACATGGACGCCACGCTGGAGG	0.682																																																0													18	26	24					9																	139730244		2067	4062	6129	SO:0001819	synonymous_variant	55684			AK094382	CCDS48058.1, CCDS55352.1, CCDS55353.1	9q34.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000196642	ENSG00000196642			24703	protein-coding gene	gene with protein product	"Rab-like protein 1", "partner of ARF"	610615	"chromosome 9 open reading frame 86"	C9orf86		14702039, 16582619, 17962191, 19433581	Standard	NM_024718		Approved	FLJ10101, FLJ13045, pp8875, bA216L13.9, Parf, RBEL1	uc004cjj.1	Q3YEC7	OTTHUMG00000020947	ENST00000311502.7:c.756C>T	chr9.hg19:g.139730244C>T			A8QVZ7|A8QVZ8|C6K8I4|C6K8I5|Q4F968|Q5T5R7|Q8IWK1|Q8TCL4|Q8WU94|Q96SR8|Q9BU21|Q9H935	Silent	SNP	ENST00000311502.7	hg19	CCDS48058.1																																																																																				0.682	RABL6-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055141.4	NM_024718		T	139730244	C	T	139730244	2	4	798	1	0	0	0	0	0	0	0	1	2504	581	21	2		2	C9orf86	9	139730244	Silent	SNP	C	TCGA-UZ-A9PJ-01A-11D-A382-10	37039167	139730244	1483187	37	47560											
IPO7	10527	hgsc.bcm.edu	37	11	9430091	9430091	+	Silent	SNP	A	A	C			TCGA-UZ-A9PJ-01A-11D-A382-10	TCGA-UZ-A9PJ-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	beb8581d-8471-4411-9521-4bf057f7d14a	b67bfe0e-ad19-4c1c-a9f3-cee65c1fee86	g.chr11:9430091A>C	ENST00000379719.3	+	3	367	c.225A>C	c.(223-225)ccA>ccC	p.P75P		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	75	Importin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00115}.				innate immune response (GO:0045087)|protein import into nucleus (GO:0006606)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)|small GTPase regulator activity (GO:0005083)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		AAACAGCACCAGGGGATATAT	0.368																																																0													67	69	68					11																	9430091		2201	4296	6497	SO:0001819	synonymous_variant	10527			AF098799	CCDS31425.1	11p15.3	2010-12-02	2003-03-11	2003-03-14	ENSG00000205339	ENSG00000205339		"Importins"	9852	protein-coding gene	gene with protein product		605586	"RAN binding protein 7"	RANBP7		9214382	Standard	NM_006391		Approved	Imp7	uc001mho.3	O95373	OTTHUMG00000165753	ENST00000379719.3:c.225A>C	chr11.hg19:g.9430091A>C			A6NNM5|B2R786|Q1RMF7|Q9H177|Q9NTE3	Silent	SNP	ENST00000379719.3	hg19	CCDS31425.1																																																																																				0.368	IPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386022.1	NM_006391		C	9430091	A	C	9430091	2	2	798	1	0	0	0	0	0	0	0	1	7799	175	7	5		5	IPO7	11	9430091	Silent	SNP	A	TCGA-UZ-A9PJ-01A-11D-A382-10		9430091	125576425	38	47561											
RBP5	9746	hgsc.bcm.edu	37	12	7280907	7280907	+	5'Flank	SNP	A	A	G			TCGA-UZ-A9PJ-01A-11D-A382-10	TCGA-UZ-A9PJ-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	beb8581d-8471-4411-9521-4bf057f7d14a	b67bfe0e-ad19-4c1c-a9f3-cee65c1fee86	g.chr12:7280907A>G	ENST00000266546.6	+	0	0				RP11-273B20.1_ENST00000538062.1_RNA|RBP5_ENST00000266560.3_Missense_Mutation_p.Y61H|RBP5_ENST00000542370.1_Missense_Mutation_p.Y61H|RP11-273B20.1_ENST00000544657.1_RNA	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3						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)			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						TGCACAGTGTAGTTTCGGAAG	0.592																																																0													165	134	144					12																	7280907		2203	4300	6503	SO:0001631	upstream_gene_variant	83758			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		chr12.hg19:g.7280907A>G	Exception_encountered		D3DUT6|O94831|Q2T9J5|Q5UE57	Missense_Mutation	SNP	ENST00000266546.6	hg19	CCDS8575.1	.	.	.	.	.	.	.	.	.	.	A	8.724	0.914971	0.17907	.	.	ENSG00000139194	ENST00000266560;ENST00000542370	T;T	0.07800	3.16;3.16	3.55	3.55	0.40652	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.062472	0.64402	D	0.000003	T	0.16171	0.0389	L	0.49126	1.545	0.58432	D	0.999996	P	0.48294	0.908	P	0.56278	0.795	T	0.06552	-1.0820	10	0.20046	T	0.44	.	13.1516	0.59492	1.0:0.0:0.0:0.0	.	61	P82980	RET5_HUMAN	H	61	ENSP00000266560:Y61H;ENSP00000438083:Y61H	ENSP00000266560:Y61H	Y	-	1	0	RBP5	7172174	1.000000	0.71417	0.848000	0.33437	0.075000	0.17131	5.670000	0.68088	1.841000	0.53522	0.402000	0.26972	TAC		0.592	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398560.2	NM_014718		G	7280907	A	G	7280907	1	3	798	0	1	0	0	0	0	0	0	0	13165	420	15	3		3	RBP5	12	7280907	5'Flank	SNP	A	TCGA-UZ-A9PJ-01A-11D-A382-10		7280907	126570988	39	47562											
C12orf74	338809	hgsc.bcm.edu	37	12	93100476	93100476	+	Silent	SNP	G	G	A			TCGA-UZ-A9PJ-01A-11D-A382-10	TCGA-UZ-A9PJ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	beb8581d-8471-4411-9521-4bf057f7d14a	b67bfe0e-ad19-4c1c-a9f3-cee65c1fee86	g.chr12:93100476G>A	ENST00000397833.3	+	2	520	c.69G>A	c.(67-69)tcG>tcA	p.S23S	C12orf74_ENST00000544406.2_Silent_p.S23S	NM_001037671.3|NM_001178097.2	NP_001032760.1|NP_001171568.1	Q32Q52	CL074_HUMAN	chromosome 12 open reading frame 74	23										kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						CTCGGCCCTCGCTGAGGAGCC	0.567																																																0													31	34	33					12																	93100476		1909	4119	6028	SO:0001819	synonymous_variant	338809			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.69G>A	chr12.hg19:g.93100476G>A			F5H4P0	Silent	SNP	ENST00000397833.3	hg19	CCDS41819.1																																																																																				0.567	C12orf74-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407285.1	NM_001037671		A	93100476	G	A	93100476	2	1	798	1	0	0	0	0	0	0	0	1	1716	1074	38	1		1	C12orf74	12	93100476	Silent	SNP	G	TCGA-UZ-A9PJ-01A-11D-A382-10	85819569	93100476	40751419	40	47563											
GJA3	2700	hgsc.bcm.edu	37	13	20716205	20716205	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9PJ-01A-11D-A382-10	TCGA-UZ-A9PJ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	beb8581d-8471-4411-9521-4bf057f7d14a	b67bfe0e-ad19-4c1c-a9f3-cee65c1fee86	g.chr13:20716205G>A	ENST00000241125.3	-	2	1399	c.1223C>T	c.(1222-1224)cCc>cTc	p.P408L		NM_021954.3	NP_068773.2	Q9Y6H8	CXA3_HUMAN	gap junction protein, alpha 3, 46kDa	408					cell-cell signaling (GO:0007267)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)	gap junction channel activity (GO:0005243)			NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784)		GAGGGGCAAGGGCGGCTGGTG	0.736																																																0													5	5	5					13																	20716205		1907	3719	5626	SO:0001583	missense	2700			AF075290	CCDS9289.1	13q12.11	2008-02-05	2007-01-16		ENSG00000121743	ENSG00000121743		"Ion channels / Gap junction proteins (connexins)"	4277	protein-coding gene	gene with protein product	"connexin 46"	121015	"gap junction protein, alpha 3, 46kD (connexin 46)", "gap junction protein, alpha 3, 46kDa (connexin 46)"	CZP3		10205266, 7342922	Standard	NM_021954		Approved	CX46	uc001umx.1	Q9Y6H8	OTTHUMG00000016510	ENST00000241125.3:c.1223C>T	chr13.hg19:g.20716205G>A	ENSP00000241125:p.Pro408Leu		Q0VAB7|Q9H537	Missense_Mutation	SNP	ENST00000241125.3	hg19	CCDS9289.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.652921	0.88056	.	.	ENSG00000121743	ENST00000241125	D	0.88586	-2.4	4.35	4.35	0.52113	.	.	.	.	.	D	0.91868	0.7426	L	0.39245	1.2	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92995	0.6418	9	0.66056	D	0.02	.	16.8836	0.86070	0.0:0.0:1.0:0.0	.	408	Q9Y6H8	CXA3_HUMAN	L	408	ENSP00000241125:P408L	ENSP00000241125:P408L	P	-	2	0	GJA3	19614205	1.000000	0.71417	0.022000	0.16811	0.060000	0.15804	9.035000	0.93752	1.968000	0.57251	0.313000	0.20887	CCC		0.736	GJA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044059.3	NM_021954		A	20716205	G	A	20716205	3	1	798	1	0	0	0	0	1	0	0	0	6404	1232	43	2	88	2	GJA3	13	20716205	Missense_Mutation	SNP	G	TCGA-UZ-A9PJ-01A-11D-A382-10		20716205	94453673	41	47564											
INTS6	26512	hgsc.bcm.edu	37	13	51961636	51961636	+	Silent	SNP	A	A	G			TCGA-UZ-A9PJ-01A-11D-A382-10	TCGA-UZ-A9PJ-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	beb8581d-8471-4411-9521-4bf057f7d14a	b67bfe0e-ad19-4c1c-a9f3-cee65c1fee86	g.chr13:51961636A>G	ENST00000311234.4	-	7	1252	c.780T>C	c.(778-780)ccT>ccC	p.P260P	INTS6_ENST00000425000.1_5'UTR|INTS6_ENST00000497989.1_Silent_p.P82P|INTS6_ENST00000490542.1_5'Flank|INTS6_ENST00000420668.2_3'UTR|INTS6_ENST00000398119.2_Silent_p.P247P|INTS6_ENST00000463928.1_Silent_p.P260P	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	260					signal transduction (GO:0007165)|snRNA processing (GO:0016180)	actin cytoskeleton (GO:0015629)|integrator complex (GO:0032039)|nucleus (GO:0005634)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		AGCTATGCCAAGGCTGAGATC	0.403																																																0													73	68	70					13																	51961636		2203	4300	6503	SO:0001819	synonymous_variant	26512			AF097645	CCDS9428.1, CCDS41890.1, CCDS45048.1	13q14.3	2010-08-20	2006-03-15	2006-03-15	ENSG00000102786	ENSG00000102786		"DEAD-boxes"	14879	protein-coding gene	gene with protein product		604331	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26"	DDX26		10467397, 16239144	Standard	XM_005266340		Approved	DICE1, HDB, Notchl2, DBI-1, DDX26A, INT6	uc001vfk.3	Q9UL03	OTTHUMG00000016945	ENST00000311234.4:c.780T>C	chr13.hg19:g.51961636A>G			Q0P664|Q6PJP4|Q9UFK0|Q9Y5M9	Silent	SNP	ENST00000311234.4	hg19	CCDS9428.1																																																																																				0.403	INTS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045023.1	NM_012141		G	51961636	A	G	51961636	2	3	798	1	0	0	0	0	0	0	0	1	7784	59	3	3		3	INTS6	13	51961636	Silent	SNP	A	TCGA-UZ-A9PJ-01A-11D-A382-10	31245431	51961636	63208242	42	47565											
ACOT2	10965	hgsc.bcm.edu	37	14	74036423	74036423	+	Missense_Mutation	SNP	T	T	C			TCGA-UZ-A9PJ-01A-11D-A382-10	TCGA-UZ-A9PJ-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	beb8581d-8471-4411-9521-4bf057f7d14a	b67bfe0e-ad19-4c1c-a9f3-cee65c1fee86	g.chr14:74036423T>C	ENST00000238651.5	+	1	661	c.479T>C	c.(478-480)gTg>gCg	p.V160A	ACOT2_ENST00000538782.1_Intron	NM_006821.5	NP_006812.3	P49753	ACOT2_HUMAN	acyl-CoA thioesterase 2	160					acyl-CoA metabolic process (GO:0006637)|long-chain fatty acid metabolic process (GO:0001676)|very long-chain fatty acid metabolic process (GO:0000038)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)		AAGCGCGACGTGCGAACGCCC	0.721																																																0													11	10	10					14																	74036423		1955	3921	5876	SO:0001583	missense	10965			AY005822, AK001939	CCDS9816.1	14q24.3	2013-09-20			ENSG00000119673	ENSG00000119673		"Acyl CoA thioesterases"	18431	protein-coding gene	gene with protein product	"mitochondrial acyl-CoA thioesterase 1"	609972				16103133, 16940157	Standard	NM_006821		Approved	Mte1, ZAP128	uc001xon.5	P49753	OTTHUMG00000171608	ENST00000238651.5:c.479T>C	chr14.hg19:g.74036423T>C	ENSP00000238651:p.Val160Ala		Q3I5F8|Q53EK4|Q9NUX4	Missense_Mutation	SNP	ENST00000238651.5	hg19	CCDS9816.1	.	.	.	.	.	.	.	.	.	.	T	13.68	2.310408	0.40895	.	.	ENSG00000119673	ENST00000238651	T	0.72505	-0.66	3.58	2.39	0.29439	Acyl-CoA thioester hydrolase/bile acid-CoA amino acid N-acetyltransferase (1);	0.069512	0.56097	D	0.000026	D	0.83238	0.5211	M	0.87180	2.865	0.44771	D	0.997779	D	0.89917	1.0	D	0.81914	0.995	T	0.82739	-0.0308	10	0.87932	D	0	-17.2886	9.1588	0.37009	0.1635:0.0:0.0:0.8365	.	160	P49753	ACOT2_HUMAN	A	160	ENSP00000238651:V160A	ENSP00000238651:V160A	V	+	2	0	ACOT2	73106176	1.000000	0.71417	0.998000	0.56505	0.031000	0.12232	2.461000	0.45040	0.365000	0.24400	0.260000	0.18958	GTG		0.721	ACOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414435.1	NM_006821		C	74036423	T	C	74036423	3	2	798	1	0	0	0	0	1	0	0	0	152	1696	59	3	481	3	ACOT2	14	74036423	Missense_Mutation	SNP	T	TCGA-UZ-A9PJ-01A-11D-A382-10		74036423	33313117	43	47566											
MYST1	84148	hgsc.bcm.edu	37	16	31131564	31131564	+	Missense_Mutation	SNP	A	A	G			TCGA-UZ-A9PJ-01A-11D-A382-10	TCGA-UZ-A9PJ-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	beb8581d-8471-4411-9521-4bf057f7d14a	b67bfe0e-ad19-4c1c-a9f3-cee65c1fee86	g.chr16:31131564A>G	ENST00000543774.2	+	3	604	c.269A>G	c.(268-270)tAt>tGt	p.Y90C	RP11-196G11.4_ENST00000576336.1_RNA|KAT8_ENST00000448516.2_Missense_Mutation_p.Y90C|KAT8_ENST00000219797.4_Missense_Mutation_p.Y90C			Q9H7Z6	KAT8_HUMAN	K(lysine) acetyltransferase 8	90	Chromo.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|myeloid cell differentiation (GO:0030099)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	histone acetyltransferase complex (GO:0000123)|kinetochore (GO:0000776)|MLL1 complex (GO:0071339)|MSL complex (GO:0072487)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|transcription factor binding (GO:0008134)	p.Y90C(1)									GAGGAATTCTATGTACACTAC	0.542																																																1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)											153	138	143					16																	31131564		2197	4300	6497	SO:0001583	missense	84148			AF217501	CCDS10706.1, CCDS45468.1	16p11.1	2013-01-10	2011-07-21	2011-07-21	ENSG00000103510	ENSG00000103510	2.3.1.48	"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing"	17933	protein-coding gene	gene with protein product		609912	"MYST histone acetyltransferase 1"	MYST1		10786633	Standard	NM_032188		Approved	MOF, FLJ14040, hMOF, ZC2HC8	uc002eax.3	Q9H7Z6	OTTHUMG00000132410	ENST00000543774.2:c.269A>G	chr16.hg19:g.31131564A>G	ENSP00000456933:p.Tyr90Cys		A8K4Z1|G5E9P2|Q659G0|Q7LC17|Q8IY59|Q8WYB4|Q8WZ14|Q9HAC5|Q9NR35	Missense_Mutation	SNP	ENST00000543774.2	hg19	CCDS10706.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.321720	0.81580	.	.	ENSG00000103510	ENST00000219797;ENST00000448516	T;T	0.56103	0.48;0.48	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.79690	0.4489	M	0.93420	3.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.85166	0.0995	10	0.87932	D	0	-14.9295	15.1835	0.72978	1.0:0.0:0.0:0.0	.	90;90	Q9H7Z6;G5E9P2	KAT8_HUMAN;.	C	90	ENSP00000219797:Y90C;ENSP00000406037:Y90C	ENSP00000219797:Y90C	Y	+	2	0	KAT8	31039065	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.286000	0.89916	2.235000	0.73313	0.533000	0.62120	TAT		0.542	KAT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000255546.3	NM_032188		G	31131564	A	G	31131564	3	3	798	1	0	0	0	0	1	0	0	0	10104	449	16	3	275	3	MYST1	16	31131564	Missense_Mutation	SNP	A	TCGA-UZ-A9PJ-01A-11D-A382-10		31131564	59223189	44	47567											
LRRC36	55282	hgsc.bcm.edu	37	16	67384190	67384190	+	Missense_Mutation	SNP	A	A	G			TCGA-UZ-A9PJ-01A-11D-A382-10	TCGA-UZ-A9PJ-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	beb8581d-8471-4411-9521-4bf057f7d14a	b67bfe0e-ad19-4c1c-a9f3-cee65c1fee86	g.chr16:67384190A>G	ENST00000329956.6	+	5	593	c.574A>G	c.(574-576)Atg>Gtg	p.M192V	LRRC36_ENST00000290940.7_5'UTR|LRRC36_ENST00000541146.1_5'UTR|LRRC36_ENST00000563189.1_Missense_Mutation_p.M71V|LRRC36_ENST00000435835.3_Missense_Mutation_p.M71V|LRRC36_ENST00000563303.1_3'UTR	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	192										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		CAGGATTGAAATGGGTAAGTT	0.383																																																0													133	139	137					16																	67384190		2198	4300	6498	SO:0001583	missense	55282			BC026156	CCDS32467.1, CCDS58474.1	16q22.1	2008-02-05				ENSG00000159708			25615	protein-coding gene	gene with protein product						12477932	Standard	NM_001161575		Approved	FLJ11004	uc002esv.3	Q1X8D7		ENST00000329956.6:c.574A>G	chr16.hg19:g.67384190A>G	ENSP00000329943:p.Met192Val		A4FTV6|A6NDE9|A8K8E6|Q7Z5K5	Missense_Mutation	SNP	ENST00000329956.6	hg19	CCDS32467.1	.	.	.	.	.	.	.	.	.	.	A	11.64	1.697963	0.30142	.	.	ENSG00000159708	ENST00000329956;ENST00000435835	T;T	0.28069	3.35;1.63	5.51	1.97	0.26223	.	0.820676	0.11062	N	0.603836	T	0.13200	0.0320	N	0.08118	0	0.80722	D	1	B;B;B	0.09022	0.0;0.002;0.002	B;B;B	0.09377	0.002;0.004;0.004	T	0.15235	-1.0444	10	0.22706	T	0.39	2.7672	3.6735	0.08283	0.6641:0.0:0.1759:0.16	.	71;71;192	B7Z7B3;Q1X8D7-2;Q1X8D7	.;.;LRC36_HUMAN	V	192;71	ENSP00000329943:M192V;ENSP00000411122:M71V	ENSP00000329943:M192V	M	+	1	0	LRRC36	65941691	0.991000	0.36638	0.670000	0.29842	0.711000	0.40976	0.260000	0.18424	0.053000	0.16036	-0.379000	0.06801	ATG		0.383	LRRC36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421770.1	NM_018296		G	67384190	A	G	67384190	3	3	798	1	0	0	0	0	1	0	0	0	8992	101	4	3	620	3	LRRC36	16	67384190	Missense_Mutation	SNP	A	TCGA-UZ-A9PJ-01A-11D-A382-10	36252626	67384190	22970563	45	47568											
SPIRE2	84501	hgsc.bcm.edu	37	16	89920723	89920723	+	Silent	SNP	G	G	T	rs148030912		TCGA-UZ-A9PJ-01A-11D-A382-10	TCGA-UZ-A9PJ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	beb8581d-8471-4411-9521-4bf057f7d14a	b67bfe0e-ad19-4c1c-a9f3-cee65c1fee86	g.chr16:89920723G>T	ENST00000378247.3	+	4	718	c.675G>T	c.(673-675)ccG>ccT	p.P225P	SPIRE2_ENST00000393062.2_Silent_p.P225P	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	225					actin cytoskeleton organization (GO:0030036)|cleavage furrow formation (GO:0036089)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|intracellular transport (GO:0046907)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		AGGACGAGCCGCATCTGGAGA	0.657																																																0													39	35	36					16																	89920723		2193	4286	6479	SO:0001819	synonymous_variant	84501			AL834408	CCDS32516.1	16q24	2013-08-27	2013-08-27			ENSG00000204991			30623	protein-coding gene	gene with protein product		609217	"spire homolog 2 (Drosophila)", "spire family actin nucleation factor 2"			11347906	Standard	NM_032451		Approved	spir-2, KIAA1832	uc002foz.1	Q8WWL2		ENST00000378247.3:c.675G>T	chr16.hg19:g.89920723G>T			A4QPB1|Q2TA98|Q6P433|Q8ND47|Q96JJ5	Silent	SNP	ENST00000378247.3	hg19	CCDS32516.1																																																																																				0.657	SPIRE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421843.1	XM_047462		T	89920723	G	T	89920723	2	4	798	1	0	0	0	0	0	0	0	1	15077	1074	38	4		4	SPIRE2	16	89920723	Silent	SNP	G	TCGA-UZ-A9PJ-01A-11D-A382-10	22536533	89920723	434030	46	47569											
KIAA0664	23277	hgsc.bcm.edu	37	17	2594073	2594073	+	Splice_Site	SNP	T	T	C			TCGA-UZ-A9PJ-01A-11D-A382-10	TCGA-UZ-A9PJ-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	beb8581d-8471-4411-9521-4bf057f7d14a	b67bfe0e-ad19-4c1c-a9f3-cee65c1fee86	g.chr17:2594073T>C	ENST00000570628.2	-	26	3852		c.e26-2		CLUH_ENST00000435359.1_Splice_Site|RP11-74E22.6_ENST00000608984.1_lincRNA|CLUH_ENST00000538975.1_Splice_Site			O75153	CLU_HUMAN	clustered mitochondria (cluA/CLU1) homolog						intracellular distribution of mitochondria (GO:0048312)	cytoplasm (GO:0005737)											TCTTTTTGGCTGAGGATAAGG	0.622																																																0													25	28	27					17																	2594073		1868	4098	5966	SO:0001630	splice_region_variant	23277			AB014564	CCDS45572.1	17p13.3	2012-12-18	2012-11-30	2012-11-30	ENSG00000132361	ENSG00000132361			29094	protein-coding gene	gene with protein product			"KIAA0664"	KIAA0664			Standard	XM_005256567		Approved	CLU1	uc002fuy.1	O75153	OTTHUMG00000177575	ENST00000570628.2:c.3747-2A>G	chr17.hg19:g.2594073T>C			Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979	Splice_Site	SNP	ENST00000570628.2	hg19	CCDS45572.1	.	.	.	.	.	.	.	.	.	.	T	13.58	2.278446	0.40294	.	.	ENSG00000132361	ENST00000435359;ENST00000322335;ENST00000538975	.	.	.	4.54	4.54	0.55810	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0378	0.58881	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIAA0664	2540823	1.000000	0.71417	0.990000	0.47175	0.448000	0.32197	7.383000	0.79741	1.808000	0.52836	0.482000	0.46254	.		0.622	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437807.2	NM_015229	Intron	C	2594073	T	C	2594073	5	2	798	1	0	0	0	0	0	0	1	0	8191	1594	55	3	188	3	KIAA0664	17	2594073	Splice_Site	SNP	T	TCGA-UZ-A9PJ-01A-11D-A382-10		2594073	78601137	47	47570											
SYNRG	11276	hgsc.bcm.edu	37	17	35969394	35969394	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9PJ-01A-11D-A382-10	TCGA-UZ-A9PJ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	beb8581d-8471-4411-9521-4bf057f7d14a	b67bfe0e-ad19-4c1c-a9f3-cee65c1fee86	g.chr17:35969394G>A	ENST00000339208.6	-	1	150	c.10C>T	c.(10-12)Cgg>Tgg	p.R4W	SYNRG_ENST00000394378.2_Missense_Mutation_p.R4W|SYNRG_ENST00000346661.4_Missense_Mutation_p.R4W|SYNRG_ENST00000585472.1_Missense_Mutation_p.R4W|SYNRG_ENST00000502449.2_Missense_Mutation_p.R4W|SYNRG_ENST00000591288.1_Missense_Mutation_p.R4W|SYNRG_ENST00000345615.4_Missense_Mutation_p.R4W|RP11-697E22.1_ENST00000591689.1_RNA	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	4					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						GCTCCTGGCCGCAGCGCCATC	0.726																																																0													3	3	3					17																	35969394		1737	3608	5345	SO:0001583	missense	11276			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.10C>T	chr17.hg19:g.35969394G>A	ENSP00000343610:p.Arg4Trp		A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Missense_Mutation	SNP	ENST00000339208.6	hg19	CCDS11321.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052424	0.75960	.	.	ENSG00000006114	ENST00000346661;ENST00000339208;ENST00000345615;ENST00000502449;ENST00000394378;ENST00000394379	T;T;T;T;T	0.59224	0.9;0.91;0.28;0.28;0.29	4.6	4.6	0.57074	.	.	.	.	.	T	0.69904	0.3163	L	0.50333	1.59	0.54753	D	0.999987	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	0.80764	0.994;0.994;0.994;0.994;0.994;0.994;0.994	T	0.73011	-0.4117	9	0.87932	D	0	.	14.2726	0.66159	0.0:0.0:1.0:0.0	.	4;4;4;4;4;4;4	A8MYE0;B7ZKZ2;Q9UMZ2-3;A8MWU4;Q9UMZ2-4;Q9UMZ2-5;Q9UMZ2	.;.;.;.;.;.;SYNRG_HUMAN	W	4	ENSP00000005279:R4W;ENSP00000343610:R4W;ENSP00000315722:R4W;ENSP00000424893:R4W;ENSP00000377903:R4W	ENSP00000343610:R4W	R	-	1	2	SYNRG	33043507	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	4.018000	0.57174	2.383000	0.81215	0.591000	0.81541	CGG		0.726	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	NM_007247		A	35969394	G	A	35969394	3	1	798	1	0	0	0	0	1	0	0	0	15465	1086	38	1	4095	1	SYNRG	17	35969394	Missense_Mutation	SNP	G	TCGA-UZ-A9PJ-01A-11D-A382-10	33375321	35969394	45225816	48	47571											
SPATA20	64847	hgsc.bcm.edu	37	17	48626272	48626272	+	Missense_Mutation	SNP	G	G	A	rs540627294		TCGA-UZ-A9PJ-01A-11D-A382-10	TCGA-UZ-A9PJ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	beb8581d-8471-4411-9521-4bf057f7d14a	b67bfe0e-ad19-4c1c-a9f3-cee65c1fee86	g.chr17:48626272G>A	ENST00000356488.4	+	4	498	c.415G>A	c.(415-417)Gta>Ata	p.V139I	SPATA20_ENST00000006658.6_Missense_Mutation_p.V155I|SPATA20_ENST00000393244.3_Missense_Mutation_p.V95I|SPATA20_ENST00000511937.1_3'UTR	NM_001258372.1	NP_001245301.1	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	139					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)			GAGTGTGAAGGTAGACCGTGA	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		20328	0.0		0.0	False		,,,				2504	0.001															0													178	132	148					17																	48626272		2203	4300	6503	SO:0001583	missense	64847				CCDS11571.1, CCDS58563.1, CCDS58564.1	17q21.33	2011-03-17			ENSG00000006282	ENSG00000006282			26125	protein-coding gene	gene with protein product	"hypothetical protein FLJ21347"	613939				12477932	Standard	NM_022827		Approved	FLJ21347, SSP411, Tisp78	uc002ird.3	Q8TB22	OTTHUMG00000162162	ENST00000356488.4:c.415G>A	chr17.hg19:g.48626272G>A	ENSP00000348878:p.Val139Ile		Q2TA99|Q2XUZ6|Q6P0P1|Q8WVW3|Q9H747	Missense_Mutation	SNP	ENST00000356488.4	hg19	CCDS58563.1	.	.	.	.	.	.	.	.	.	.	G	18.82	3.705844	0.68615	.	.	ENSG00000006282	ENST00000006658;ENST00000356488;ENST00000393244	T;T;T	0.54479	0.57;0.57;0.57	4.72	3.75	0.43078	Thioredoxin-like fold (2);Domain of unknown function DUF255 (1);	0.222830	0.37136	N	0.002224	T	0.70911	0.3278	M	0.85373	2.75	0.44388	D	0.997296	D;P;P	0.56521	0.976;0.954;0.888	P;P;P	0.61070	0.883;0.878;0.806	T	0.75863	-0.3167	10	0.72032	D	0.01	-1.6906	12.653	0.56772	0.0809:0.0:0.9191:0.0	.	139;139;155	B4DZC5;Q8TB22;Q8TB22-2	.;SPT20_HUMAN;.	I	155;139;95	ENSP00000006658:V155I;ENSP00000348878:V139I;ENSP00000376935:V95I	ENSP00000006658:V155I	V	+	1	0	SPATA20	45981271	1.000000	0.71417	1.000000	0.80357	0.569000	0.35902	5.966000	0.70395	0.981000	0.38548	0.436000	0.28706	GTA		0.587	SPATA20-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367651.1	NM_022827		A	48626272	G	A	48626272	3	1	798	1	0	0	0	0	1	0	0	0	15011	1261	44	2	481	2	SPATA20	17	48626272	Missense_Mutation	SNP	G	TCGA-UZ-A9PJ-01A-11D-A382-10	12656878	48626272	32568938	49	47572											
ADAMTS10	81794	hgsc.bcm.edu	37	19	8654145	8654145	+	Missense_Mutation	SNP	G	G	C			TCGA-UZ-A9PJ-01A-11D-A382-10	TCGA-UZ-A9PJ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	beb8581d-8471-4411-9521-4bf057f7d14a	b67bfe0e-ad19-4c1c-a9f3-cee65c1fee86	g.chr19:8654145G>C	ENST00000597188.1	-	18	2409	c.2139C>G	c.(2137-2139)agC>agG	p.S713R	ADAMTS10_ENST00000270328.4_Missense_Mutation_p.S713R|ADAMTS10_ENST00000595838.1_Missense_Mutation_p.S200R	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	713	Spacer.					extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GTGAGGCTGGGCTGAAGACGC	0.662																																																0													54	46	48					19																	8654145		2203	4300	6503	SO:0001583	missense	81794			AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"ADAM metallopeptidases with thrombospondin type 1 motif"	13201	protein-coding gene	gene with protein product		608990	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.2139C>G	chr19.hg19:g.8654145G>C	ENSP00000471851:p.Ser713Arg		M0QZE4	Missense_Mutation	SNP	ENST00000597188.1	hg19	CCDS12206.1	.	.	.	.	.	.	.	.	.	.	G	7.625	0.677679	0.14841	.	.	ENSG00000142303	ENST00000270328;ENST00000393912	T	0.51325	0.71	5.21	1.29	0.21616	ADAM-TS Spacer 1 (1);	0.242826	0.39083	N	0.001480	T	0.37652	0.1011	N	0.16743	0.435	0.29576	N	0.84954	B;B;P	0.41188	0.328;0.254;0.741	B;B;P	0.48141	0.063;0.219;0.568	T	0.36016	-0.9765	10	0.49607	T	0.09	.	10.3729	0.44064	0.274:0.0:0.726:0.0	.	467;713;200	Q59FE5;Q9H324;E9PCI6	.;ATS10_HUMAN;.	R	713;467	ENSP00000270328:S713R	ENSP00000270328:S713R	S	-	3	2	ADAMTS10	8560145	1.000000	0.71417	0.343000	0.25615	0.023000	0.10783	1.797000	0.38804	0.513000	0.28278	-0.345000	0.07892	AGC		0.662	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3	NM_030957		C	8654145	G	C	8654145	3	2	798	1	0	0	0	0	1	0	0	0	256	1194	42	4	1208	4	ADAMTS10	19	8654145	Missense_Mutation	SNP	G	TCGA-UZ-A9PJ-01A-11D-A382-10		8654145	50474838	50	47573											
UPF1	5976	hgsc.bcm.edu	37	19	18964067	18964067	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9PJ-01A-11D-A382-10	TCGA-UZ-A9PJ-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	beb8581d-8471-4411-9521-4bf057f7d14a	b67bfe0e-ad19-4c1c-a9f3-cee65c1fee86	g.chr19:18964067G>A	ENST00000599848.1	+	8	1306	c.1097G>A	c.(1096-1098)cGg>cAg	p.R366Q	UPF1_ENST00000262803.5_Missense_Mutation_p.R355Q			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	366	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						CAAGACATGCGGCTCATGCAG	0.537																																																0													57	53	54					19																	18964067		2203	4300	6503	SO:0001583	missense	5976			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.1097G>A	chr19.hg19:g.18964067G>A	ENSP00000470142:p.Arg366Gln		O00239|O43343|Q86Z25|Q92842	Missense_Mutation	SNP	ENST00000599848.1	hg19		.	.	.	.	.	.	.	.	.	.	G	21.8	4.199893	0.79015	.	.	ENSG00000005007	ENST00000262803	D	0.90563	-2.69	4.69	3.65	0.41850	.	0.000000	0.85682	D	0.000000	D	0.88584	0.6476	M	0.75615	2.305	0.80722	D	1	P;P	0.51791	0.913;0.948	B;B	0.38880	0.148;0.284	D	0.88849	0.3318	10	0.87932	D	0	-29.4704	12.3484	0.55134	0.0834:0.0:0.9166:0.0	.	366;355	Q92900;Q92900-2	RENT1_HUMAN;.	Q	355	ENSP00000262803:R355Q	ENSP00000262803:R355Q	R	+	2	0	UPF1	18825067	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.374000	0.97172	1.113000	0.41760	0.609000	0.83330	CGG		0.537	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1	NM_002911		A	18964067	G	A	18964067	3	1	798	1	0	0	0	0	1	0	0	0	17008	1116	39	1	1094	1	UPF1	19	18964067	Missense_Mutation	SNP	G	TCGA-UZ-A9PJ-01A-11D-A382-10	10309922	18964067	40164916	51	47574											
EXOSC5	56915	hgsc.bcm.edu	37	19	41898792	41898792	+	Missense_Mutation	SNP	C	C	A	rs370634546		TCGA-UZ-A9PJ-01A-11D-A382-10	TCGA-UZ-A9PJ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	beb8581d-8471-4411-9521-4bf057f7d14a	b67bfe0e-ad19-4c1c-a9f3-cee65c1fee86	g.chr19:41898792C>A	ENST00000221233.4	-	2	392	c.242G>T	c.(241-243)aGg>aTg	p.R81M	CTC-435M10.3_ENST00000604424.1_Intron|CTC-435M10.3_ENST00000540732.1_Intron|EXOSC5_ENST00000596905.1_Intron|BCKDHA_ENST00000595085.1_Intron	NM_020158.3	NP_064543.3	Q9NQT4	EXOS5_HUMAN	exosome component 5	81					defense response to virus (GO:0051607)|DNA deamination (GO:0045006)|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)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|transcriptionally active chromatin (GO:0035327)	3'-5'-exoribonuclease activity (GO:0000175)|RNA binding (GO:0003723)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						AATCTTCGGCCTCAGGATCAC	0.592																																																0													92	67	75					19																	41898792		2203	4300	6503	SO:0001583	missense	56915			AF285785	CCDS12580.1	19q13.1	2008-02-05				ENSG00000077348			24662	protein-coding gene	gene with protein product	"exosome component Rrp46"	606492				11110791, 11812149	Standard	NM_020158		Approved	hRrp46p, Rrp46p, RRP46, RRP41B, MGC12901, p12B	uc002oqo.3	Q9NQT4		ENST00000221233.4:c.242G>T	chr19.hg19:g.41898792C>A	ENSP00000221233:p.Arg81Met		Q32Q81|Q8NG16|Q96I89	Missense_Mutation	SNP	ENST00000221233.4	hg19	CCDS12580.1	.	.	.	.	.	.	.	.	.	.	C	18.67	3.674170	0.67928	.	.	ENSG00000077348	ENST00000221233	T	0.64438	-0.1	4.95	3.87	0.44632	Ribosomal protein S5 domain 2-type fold (1);Exoribonuclease, phosphorolytic domain 1 (1);	0.115804	0.64402	D	0.000009	T	0.77980	0.4212	M	0.86953	2.85	0.54753	D	0.999988	D	0.65815	0.995	P	0.61722	0.893	T	0.81949	-0.0699	10	0.87932	D	0	-37.0339	12.3853	0.55328	0.0:0.9039:0.0:0.0961	.	81	Q9NQT4	EXOS5_HUMAN	M	81	ENSP00000221233:R81M	ENSP00000221233:R81M	R	-	2	0	EXOSC5	46590632	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.008000	0.40893	2.568000	0.86640	0.555000	0.69702	AGG		0.592	EXOSC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463492.1	NM_020158		A	41898792	C	A	41898792	3	1	798	1	0	0	0	0	1	0	0	0	5320	681	24	4	485	4	EXOSC5	19	41898792	Missense_Mutation	SNP	C	TCGA-UZ-A9PJ-01A-11D-A382-10	22934725	41898792	17230191	52	47575											
NLRP13	126204	hgsc.bcm.edu	37	19	56423298	56423298	+	Missense_Mutation	SNP	C	C	T			TCGA-UZ-A9PJ-01A-11D-A382-10	TCGA-UZ-A9PJ-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	beb8581d-8471-4411-9521-4bf057f7d14a	b67bfe0e-ad19-4c1c-a9f3-cee65c1fee86	g.chr19:56423298C>T	ENST00000342929.3	-	5	1884	c.1885G>A	c.(1885-1887)Gcc>Acc	p.A629T	NLRP13_ENST00000588751.1_Missense_Mutation_p.A629T	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	629							ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TGGAGAGAGGCACTTTCAGCC	0.418																																																0													101	94	96					19																	56423298		2203	4300	6503	SO:0001583	missense	126204			AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"Nucleotide-binding domain and leucine rich repeat containing"	22937	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"	609660	"NACHT, leucine rich repeat and PYD containing 13"	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.1885G>A	chr19.hg19:g.56423298C>T	ENSP00000343891:p.Ala629Thr		Q7RTR5	Missense_Mutation	SNP	ENST00000342929.3	hg19	CCDS33119.1	.	.	.	.	.	.	.	.	.	.	C	8.248	0.808302	0.16467	.	.	ENSG00000173572	ENST00000342929	D	0.88046	-2.33	2.37	2.37	0.29283	.	.	.	.	.	T	0.72179	0.3428	N	0.14661	0.345	0.09310	N	1	B	0.33739	0.422	B	0.30251	0.113	T	0.58853	-0.7563	9	0.14656	T	0.56	.	8.7605	0.34672	0.0:1.0:0.0:0.0	.	629	Q86W25	NAL13_HUMAN	T	629	ENSP00000343891:A629T	ENSP00000343891:A629T	A	-	1	0	NLRP13	61115110	0.000000	0.05858	0.001000	0.08648	0.085000	0.17905	-1.407000	0.02488	1.285000	0.44548	0.543000	0.68304	GCC		0.418	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		T	56423298	C	T	56423298	3	4	798	1	0	0	0	0	1	0	0	0	10477	710	25	2	1272	2	NLRP13	19	56423298	Missense_Mutation	SNP	C	TCGA-UZ-A9PJ-01A-11D-A382-10	14524506	56423298	2705685	53	47576											
RIN2	54453	hgsc.bcm.edu	37	20	19956369	19956369	+	Missense_Mutation	SNP	A	A	G			TCGA-UZ-A9PJ-01A-11D-A382-10	TCGA-UZ-A9PJ-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	beb8581d-8471-4411-9521-4bf057f7d14a	b67bfe0e-ad19-4c1c-a9f3-cee65c1fee86	g.chr20:19956369A>G	ENST00000255006.6	+	8	1996	c.1847A>G	c.(1846-1848)tAt>tGt	p.Y616C	RIN2_ENST00000440354.2_Intron|RIN2_ENST00000484638.1_3'UTR	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	567					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						GTCAAGAACTATTTGTCTCAG	0.498																																																0													23	25	24					20																	19956369		2068	4208	6276	SO:0001583	missense	54453			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.1847A>G	chr20.hg19:g.19956369A>G	ENSP00000255006:p.Tyr616Cys		Q00425|Q5TFT8|Q9BQL3|Q9H071	Missense_Mutation	SNP	ENST00000255006.6	hg19	CCDS56182.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.970260	0.74246	.	.	ENSG00000132669	ENST00000255006	T	0.30714	1.52	5.95	5.95	0.96441	.	0.057617	0.64402	N	0.000001	T	0.54679	0.1873	M	0.69463	2.115	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.53005	-0.8499	9	.	.	.	-9.6229	16.066	0.80870	1.0:0.0:0.0:0.0	.	567	Q8WYP3	RIN2_HUMAN	C	616	ENSP00000255006:Y616C	.	Y	+	2	0	RIN2	19904369	1.000000	0.71417	0.944000	0.38274	0.882000	0.50991	9.307000	0.96226	2.277000	0.76020	0.533000	0.62120	TAT		0.498	RIN2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078212.1			G	19956369	A	G	19956369	3	3	798	1	0	0	0	0	1	0	0	0	13378	449	16	3	1726	3	RIN2	20	19956369	Missense_Mutation	SNP	A	TCGA-UZ-A9PJ-01A-11D-A382-10		19956369	43069151	54	47577											
PCK1	5105	hgsc.bcm.edu	37	20	56138684	56138684	+	Missense_Mutation	SNP	T	T	C			TCGA-UZ-A9PJ-01A-11D-A382-10	TCGA-UZ-A9PJ-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	beb8581d-8471-4411-9521-4bf057f7d14a	b67bfe0e-ad19-4c1c-a9f3-cee65c1fee86	g.chr20:56138684T>C	ENST00000319441.4	+	6	1026	c.862T>C	c.(862-864)Tgc>Cgc	p.C288R	PCK1_ENST00000535860.1_Missense_Mutation_p.C156R|PCK1_ENST00000543666.1_Intron	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	288					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)			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)			TCCCAGCGCCTGCGGGAAGAC	0.542																																																0													79	79	79					20																	56138684		2203	4300	6503	SO:0001583	missense	5105				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.862T>C	chr20.hg19:g.56138684T>C	ENSP00000319814:p.Cys288Arg		A8K437|B4DT64|Q8TCA3|Q9UJD2	Missense_Mutation	SNP	ENST00000319441.4	hg19	CCDS13460.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.450060	0.84101	.	.	ENSG00000124253	ENST00000319441;ENST00000535860	T;T	0.08546	3.08;3.08	5.27	5.27	0.74061	Phosphoenolpyruvate carboxykinase, C-terminal (1);Phosphoenolpyruvate carboxykinase, GTP-utilising, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.46795	0.1411	H	0.98542	4.26	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68853	-0.5299	10	0.87932	D	0	-25.1308	15.1956	0.73084	0.0:0.0:0.0:1.0	.	288	P35558	PCKGC_HUMAN	R	288;156	ENSP00000319814:C288R;ENSP00000444342:C156R	ENSP00000319814:C288R	C	+	1	0	PCK1	55572090	1.000000	0.71417	0.999000	0.59377	0.878000	0.50629	7.587000	0.82613	2.006000	0.58801	0.459000	0.35465	TGC		0.542	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079851.2			C	56138684	T	C	56138684	3	2	798	1	0	0	0	0	1	0	0	0	11583	1580	55	3	880	3	PCK1	20	56138684	Missense_Mutation	SNP	T	TCGA-UZ-A9PJ-01A-11D-A382-10	36182315	56138684	6886836	55	47578											
SON	6651	hgsc.bcm.edu	37	21	34927348	34927348	+	Silent	SNP	A	A	T			TCGA-UZ-A9PJ-01A-11D-A382-10	TCGA-UZ-A9PJ-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	beb8581d-8471-4411-9521-4bf057f7d14a	b67bfe0e-ad19-4c1c-a9f3-cee65c1fee86	g.chr21:34927348A>T	ENST00000356577.4	+	3	6286	c.5811A>T	c.(5809-5811)cgA>cgT	p.R1937R	SON_ENST00000381692.2_Intron|SON_ENST00000300278.4_Silent_p.R1937R|SON_ENST00000290239.6_Silent_p.R1937R|SON_ENST00000381679.4_Silent_p.R1937R	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	1937	2 X 19 AA repeats of P-S-R-R-R-R-S-R-S-V- V-R-R-R-S-F-S-I-S.|7 X 7 AA repeats of P-S-R-R-S-R-[TS].				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						CAAGTCGTCGACGAAGGTCTA	0.577																																																0													30	30	30					21																	34927348		2184	4275	6459	SO:0001819	synonymous_variant	6651			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.5811A>T	chr21.hg19:g.34927348A>T			D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Silent	SNP	ENST00000356577.4	hg19	CCDS13629.1	.	.	.	.	.	.	.	.	.	.	A	4.663	0.123277	0.08931	.	.	ENSG00000159140	ENST00000436227	.	.	.	5.53	-3.72	0.04411	.	.	.	.	.	T	0.42877	0.1222	.	.	.	0.25553	N	0.987064	.	.	.	.	.	.	T	0.43940	-0.9360	4	.	.	.	.	14.7121	0.69241	0.4215:0.0:0.5785:0.0	.	.	.	.	V	932	.	.	D	+	2	0	SON	33849218	0.000000	0.05858	0.201000	0.23476	0.946000	0.59487	-0.249000	0.08842	-0.726000	0.04895	-0.256000	0.11100	GAC		0.577	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		T	34927348	A	T	34927348	2	4	798	1	0	0	0	0	0	0	0	1	14932	262	10	5		5	SON	21	34927348	Silent	SNP	A	TCGA-UZ-A9PJ-01A-11D-A382-10		34927348	13202547	56	47579											
MORC3	23515	hgsc.bcm.edu	37	21	37747537	37747537	+	Silent	SNP	A	A	G			TCGA-UZ-A9PJ-01A-11D-A382-10	TCGA-UZ-A9PJ-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	beb8581d-8471-4411-9521-4bf057f7d14a	b67bfe0e-ad19-4c1c-a9f3-cee65c1fee86	g.chr21:37747537A>G	ENST00000400485.1	+	17	2839	c.2763A>G	c.(2761-2763)gtA>gtG	p.V921V	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	921					cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)	PML body (GO:0016605)	zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						ATGTTGATGTAGTTGATGAGA	0.363																																																0													163	151	155					21																	37747537		1916	4124	6040	SO:0001819	synonymous_variant	23515			AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256			23572	protein-coding gene	gene with protein product		610078	"zinc finger, CW-type with coiled-coil domain 3", "zinc finger, CW type with coiled-coil domain 3"	ZCWCC3		14607086	Standard	NM_015358		Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	ENST00000400485.1:c.2763A>G	chr21.hg19:g.37747537A>G			A8KA92|Q9UEZ2	Silent	SNP	ENST00000400485.1	hg19	CCDS42924.1																																																																																				0.363	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000194640.1	NM_015358		G	37747537	A	G	37747537	2	3	798	1	0	0	0	0	0	0	0	1	9705	407	15	3		3	MORC3	21	37747537	Silent	SNP	A	TCGA-UZ-A9PJ-01A-11D-A382-10	2820189	37747537	10382358	57	47580											
C21orf2	755	hgsc.bcm.edu	37	21	45751780	45751780	+	Missense_Mutation	SNP	A	A	G			TCGA-UZ-A9PJ-01A-11D-A382-10	TCGA-UZ-A9PJ-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	beb8581d-8471-4411-9521-4bf057f7d14a	b67bfe0e-ad19-4c1c-a9f3-cee65c1fee86	g.chr21:45751780A>G	ENST00000339818.4	-	5	698	c.491T>C	c.(490-492)cTc>cCc	p.L164P	C21orf2_ENST00000397956.3_Missense_Mutation_p.L164P|C21orf2_ENST00000496321.1_5'UTR|AP001062.7_ENST00000448927.1_RNA|C21orf2_ENST00000325223.7_Missense_Mutation_p.L164P|AP001062.8_ENST00000422357.1_RNA	NM_001271440.1|NM_004928.2	NP_001258369.1|NP_004919.1	O43822	CU002_HUMAN	chromosome 21 open reading frame 2	164					cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				endometrium(2)	2				Colorectal(79;0.0806)		AGCGGAGCTGAGGGAGCTCAG	0.687																																																0													50	42	45					21																	45751780		2202	4300	6502	SO:0001583	missense	755			Y11392	CCDS13709.1, CCDS59444.1, CCDS59445.1	21q22.3	2014-03-24			ENSG00000160226	ENSG00000160226			1260	protein-coding gene	gene with protein product	"nuclear encoded mitochondrial protein", "leucine rich repeat containing 76"	603191				9465297	Standard	NM_004928		Approved	YF5, A2, LRRC76	uc002zeq.2	O43822	OTTHUMG00000086909	ENST00000339818.4:c.491T>C	chr21.hg19:g.45751780A>G	ENSP00000344566:p.Leu164Pro		A8MPS9|O14993|Q8N5X6|Q99837|Q99838	Missense_Mutation	SNP	ENST00000339818.4	hg19	CCDS13709.1	.	.	.	.	.	.	.	.	.	.	A	12.36	1.915165	0.33815	.	.	ENSG00000160226	ENST00000339818;ENST00000380160;ENST00000397956;ENST00000325223	T;T;T	0.36520	1.64;1.25;1.59	4.72	-0.634	0.11516	.	1.444430	0.03680	N	0.245363	T	0.25938	0.0632	N	0.22421	0.69	0.09310	N	1	P;D;P;P	0.56035	0.744;0.974;0.627;0.744	B;P;B;B	0.46208	0.341;0.507;0.184;0.341	T	0.11717	-1.0576	10	0.27082	T	0.32	-4.2235	2.5485	0.04742	0.4003:0.0:0.2579:0.3418	.	164;164;164;123	G5E952;Q8N5X6;O43822;O43822-2	.;.;CU002_HUMAN;.	P	164;200;164;164	ENSP00000344566:L164P;ENSP00000381047:L164P;ENSP00000317302:L164P	ENSP00000317302:L164P	L	-	2	0	C21orf2	44576208	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	0.486000	0.22340	-0.044000	0.13491	0.533000	0.62120	CTC		0.687	C21orf2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195799.1	NM_004928		G	45751780	A	G	45751780	3	3	798	1	0	0	0	0	1	0	0	0	2125	304	11	3	291	3	C21orf2	21	45751780	Missense_Mutation	SNP	A	TCGA-UZ-A9PJ-01A-11D-A382-10	8004243	45751780	2378115	58	47581											
TNNI3K	100526835	hgsc.bcm.edu	37	1	74905231	74905231	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9PK-01A-11D-A382-10	TCGA-UZ-A9PK-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9cb79cdb-d48d-4fd8-bdce-1f969be4a55f	36e67294-52d8-43b6-a9c0-0ed08f740cb3	g.chr1:74905231G>A	ENST00000370899.3	+	22	2276	c.2239G>A	c.(2239-2241)Gca>Aca	p.A747T	TNNI3K_ENST00000326637.3_Missense_Mutation_p.A646T|TNNI3K_ENST00000370891.2_Missense_Mutation_p.A747T|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.A760T	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough																		CACCATCAAAGCAGATGTCTT	0.473																																																0													161	134	143					1																	74905231		2203	4300	6503	SO:0001583	missense	100526835					1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.2239G>A	chr1.hg19:g.74905231G>A	ENSP00000359936:p.Ala747Thr			Missense_Mutation	SNP	ENST00000370899.3	hg19		.	.	.	.	.	.	.	.	.	.	G	29.3	4.992671	0.93167	.	.	ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000370899;ENST00000557284;ENST00000370891;ENST00000326637	D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66	5.96	5.96	0.96718	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.87565	0.6209	L	0.46157	1.445	0.80722	D	1	D;D;D	0.71674	0.998;0.997;0.997	D;D;D	0.69824	0.966;0.942;0.942	D	0.87440	0.2394	10	0.72032	D	0.01	.	20.4144	0.99026	0.0:0.0:1.0:0.0	.	646;747;747	Q59H18;Q59H18-1;Q59H18-4	TNI3K_HUMAN;.;.	T	747;747;747;646	ENSP00000359936:A747T;ENSP00000450895:A747T;ENSP00000359928:A747T;ENSP00000322251:A646T	ENSP00000322251:A646T	A	+	1	0	RP11-653A5.2;AC093158.1	74677819	1.000000	0.71417	0.996000	0.52242	0.484000	0.33280	7.443000	0.80521	2.833000	0.97629	0.555000	0.69702	GCA		0.473	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000026438.3			A	74905231	G	A	74905231	3	1	799	1	0	0	0	0	1	0	0	0	16334	971	34	2	2369	2	TNNI3K	1	74905231	Missense_Mutation	SNP	G	TCGA-UZ-A9PK-01A-11D-A382-10		74905231	174345390	1	47582											
DR1	1810	hgsc.bcm.edu	37	1	93812241	93812241	+	Frame_Shift_Del	DEL	C	C	-			TCGA-UZ-A9PK-01A-11D-A382-10	TCGA-UZ-A9PK-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9cb79cdb-d48d-4fd8-bdce-1f969be4a55f	36e67294-52d8-43b6-a9c0-0ed08f740cb3	g.chr1:93812241delC	ENST00000370272.4	+	1	797	c.39delC	c.(37-39)atcfs	p.I13fs	RP4-717I23.3_ENST00000413606.1_RNA|DR1_ENST00000370267.1_Frame_Shift_Del_p.I13fs|RP4-717I23.3_ENST00000451302.2_RNA	NM_001938.2	NP_001929.1	Q01658	NC2B_HUMAN	down-regulator of transcription 1, TBP-binding (negative cofactor 2)	13					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)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(3)|large_intestine(1)	4		all_lung(203;0.00252)|Lung NSC(277;0.011)|Melanoma(281;0.155)		all cancers(265;0.0032)|GBM - Glioblastoma multiforme(16;0.0165)|Epithelial(280;0.0977)		ATCTCACTATCCCCAGAGCTG	0.507																																																0													87	89	88					1																	93812241		2203	4300	6503	SO:0001589	frameshift_variant	1810			M97388	CCDS744.1	1p22.1	2008-02-05			ENSG00000117505	ENSG00000117505			3017	protein-coding gene	gene with protein product		601482				1339312, 9040789	Standard	NM_001938		Approved	NC2, NC2-BETA	uc001dpu.3	Q01658	OTTHUMG00000010862	ENST00000370272.4:c.39delC	chr1.hg19:g.93812241delC	ENSP00000359295:p.Ile13fs			Frame_Shift_Del	DEL	ENST00000370272.4	hg19	CCDS744.1																																																																																				0.507	DR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029976.2	NM_001938		-	93812241	C	-	93812241	7	5	799	1	0	1	0	1	0	0	0	0	4754	845	30	0	41	0	DR1	1	93812241	Frame_Shift_Del	DEL	C	TCGA-UZ-A9PK-01A-11D-A382-10	18907010	93812241	155438380	2	47583											
HIST2H2BE	8349	hgsc.bcm.edu	37	1	149858172	149858172	+	Missense_Mutation	SNP	A	A	T			TCGA-UZ-A9PK-01A-11D-A382-10	TCGA-UZ-A9PK-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9cb79cdb-d48d-4fd8-bdce-1f969be4a55f	36e67294-52d8-43b6-a9c0-0ed08f740cb3	g.chr1:149858172A>T	ENST00000369155.2	-	1	60	c.19T>A	c.(19-21)Tcc>Acc	p.S7T	BOLA1_ENST00000369153.2_5'Flank|HIST2H2AC_ENST00000331380.2_5'Flank	NM_003528.2	NP_003519.1	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	7					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)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GCCGGAGCGGATTTTGCCGGT	0.512																																																0													62	63	63					1																	149858172		2203	4300	6503	SO:0001583	missense	8349			AY131979	CCDS936.1	1q21.2	2011-01-27	2006-10-11	2003-03-07	ENSG00000184678	ENSG00000184678		"Histones / Replication-dependent"	4760	protein-coding gene	gene with protein product		601831	"H2B histone family, member Q", "histone 2, H2be"	H2B, H2BFQ		1469070, 12408966	Standard	NM_003528		Approved	H2B/q, H2B.1	uc001etc.3	Q16778	OTTHUMG00000012095	ENST00000369155.2:c.19T>A	chr1.hg19:g.149858172A>T	ENSP00000358151:p.Ser7Thr		A3KMC7|A8K110|Q4KMY1|Q5QNX0|Q9UE88	Missense_Mutation	SNP	ENST00000369155.2	hg19	CCDS936.1	.	.	.	.	.	.	.	.	.	.	A	15.64	2.893516	0.52121	.	.	ENSG00000184678	ENST00000369155	T	0.17691	2.26	5.99	5.99	0.97316	Histone-fold (2);	0.000000	0.85682	D	0.000000	T	0.11793	0.0287	M	0.69823	2.125	0.26659	N	0.971944	B	0.02656	0.0	B	0.01281	0.0	T	0.04115	-1.0976	10	0.56958	D	0.05	.	15.377	0.74615	1.0:0.0:0.0:0.0	.	7	Q16778	H2B2E_HUMAN	T	7	ENSP00000358151:S7T	ENSP00000358151:S7T	S	-	1	0	HIST2H2BE	148124796	0.951000	0.32395	0.984000	0.44739	0.961000	0.63080	3.076000	0.50081	2.305000	0.77605	0.529000	0.55759	TCC		0.512	HIST2H2BE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033455.1	NM_003528		T	149858172	A	T	149858172	3	4	799	1	0	0	0	0	1	0	0	0	7181	333	12	5	365	5	HIST2H2BE	1	149858172	Missense_Mutation	SNP	A	TCGA-UZ-A9PK-01A-11D-A382-10	56045931	149858172	99392449	3	47584											
ECM1	1893	hgsc.bcm.edu	37	1	150482014	150482014	+	Silent	SNP	G	G	T	rs200429908		TCGA-UZ-A9PK-01A-11D-A382-10	TCGA-UZ-A9PK-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9cb79cdb-d48d-4fd8-bdce-1f969be4a55f	36e67294-52d8-43b6-a9c0-0ed08f740cb3	g.chr1:150482014G>T	ENST00000369047.4	+	2	203	c.78G>T	c.(76-78)acG>acT	p.T26T	ECM1_ENST00000369049.4_Silent_p.T26T|ECM1_ENST00000346569.6_Silent_p.T26T|ECM1_ENST00000470432.1_3'UTR	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	26					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)			CAGGCTTCACGGCTACAGGAC	0.597																																					Melanoma(156;1696 2560 11093 19685)											0													73	70	71					1																	150482014		2203	4300	6503	SO:0001819	synonymous_variant	1893			U68186	CCDS953.1, CCDS954.1, CCDS55632.1	1q21	2008-02-05			ENSG00000143369	ENSG00000143369			3153	protein-coding gene	gene with protein product		602201				9367673, 9501329	Standard	NM_004425		Approved		uc001eus.3	Q16610	OTTHUMG00000012806	ENST00000369047.4:c.78G>T	chr1.hg19:g.150482014G>T			A8K8S0|B4DW49|B4DY60|O43266|Q5T5G4|Q5T5G5|Q5T5G6|Q8IZ60	Silent	SNP	ENST00000369047.4	hg19	CCDS953.1																																																																																				0.597	ECM1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035832.2	NM_004425		T	150482014	G	T	150482014	2	4	799	1	0	0	0	0	0	0	0	1	4899	1103	39	4		4	ECM1	1	150482014	Silent	SNP	G	TCGA-UZ-A9PK-01A-11D-A382-10	623842	150482014	98768607	4	47585											
EFNA1	1942	hgsc.bcm.edu	37	1	155104053	155104053	+	Missense_Mutation	SNP	T	T	C			TCGA-UZ-A9PK-01A-11D-A382-10	TCGA-UZ-A9PK-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9cb79cdb-d48d-4fd8-bdce-1f969be4a55f	36e67294-52d8-43b6-a9c0-0ed08f740cb3	g.chr1:155104053T>C	ENST00000368407.3	+	2	849	c.331T>C	c.(331-333)Ttc>Ctc	p.F111L	EFNA1_ENST00000469878.1_3'UTR|EFNA1_ENST00000368406.2_Missense_Mutation_p.F111L	NM_004428.2	NP_004419.2	P20827	EFNA1_HUMAN	ephrin-A1	111	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|ephrin receptor signaling pathway (GO:0048013)|mitral valve morphogenesis (GO:0003183)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|notochord formation (GO:0014028)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of angiogenesis (GO:0045765)|regulation of axonogenesis (GO:0050770)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|substrate adhesion-dependent cell spreading (GO:0034446)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ephrin receptor binding (GO:0046875)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|kidney(1)|lung(1)|skin(1)	5	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)			GTTCCAGCGCTTCACACCTTT	0.567																																																0													53	47	49					1																	155104053		2203	4300	6503	SO:0001583	missense	1942				CCDS1091.1, CCDS1092.1	1q21-q22	2011-03-09			ENSG00000169242	ENSG00000169242		"Ephrins"	3221	protein-coding gene	gene with protein product		191164		TNFAIP4, EPLG1		2233719, 8660976	Standard	NM_182685		Approved	LERK1, ECKLG	uc001fhh.3	P20827	OTTHUMG00000035312	ENST00000368407.3:c.331T>C	chr1.hg19:g.155104053T>C	ENSP00000357392:p.Phe111Leu		D3DV86|Q5SR60|Q5SR61|Q6I9T9|Q8N578	Missense_Mutation	SNP	ENST00000368407.3	hg19	CCDS1091.1	.	.	.	.	.	.	.	.	.	.	T	33	5.231564	0.95207	.	.	ENSG00000169242	ENST00000368407;ENST00000368406	D;D	0.94280	-3.39;-3.39	5.22	5.22	0.72569	Ephrin, conserved site (1);Cupredoxin (2);	0.000000	0.85682	D	0.000000	D	0.96009	0.8700	M	0.83012	2.62	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.96161	0.9115	10	0.54805	T	0.06	-1.3233	13.3345	0.60509	0.0:0.0:0.0:1.0	.	111;111	P20827-2;P20827	.;EFNA1_HUMAN	L	111	ENSP00000357392:F111L;ENSP00000357391:F111L	ENSP00000357391:F111L	F	+	1	0	EFNA1	153370677	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.616000	0.83018	2.097000	0.63578	0.533000	0.62120	TTC		0.567	EFNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085428.1	NM_004428		C	155104053	T	C	155104053	3	2	799	1	0	0	0	0	1	0	0	0	4952	1609	56	3	337	3	EFNA1	1	155104053	Missense_Mutation	SNP	T	TCGA-UZ-A9PK-01A-11D-A382-10	4622039	155104053	94146568	5	47586											
GMCL1	64395	hgsc.bcm.edu	37	2	70074701	70074701	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9PK-01A-11D-A382-10	TCGA-UZ-A9PK-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9cb79cdb-d48d-4fd8-bdce-1f969be4a55f	36e67294-52d8-43b6-a9c0-0ed08f740cb3	g.chr2:70074701G>A	ENST00000282570.3	+	7	1036	c.785G>A	c.(784-786)gGt>gAt	p.G262D		NM_178439.3	NP_848526.1	Q96IK5	GMCL1_HUMAN	germ cell-less, spermatogenesis associated 1	262					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)	nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	15						CAGCTCATTGGTTCATCTAAC	0.358																																																0													172	183	179					2																	70074701		2203	4299	6502	SO:0001583	missense	64395			AK023119	CCDS1895.1	2p13.3	2013-01-09	2012-08-20		ENSG00000087338	ENSG00000087338		"BTB/POZ domain containing"	23843	protein-coding gene	gene with protein product	"spermatogenesis associated 29"		"germ cell-less homolog 1 (Drosophila)"				Standard	NM_178439		Approved	FLJ13057, BTBD13, GCL1, SPATA29	uc002sfu.3	Q96IK5	OTTHUMG00000129643	ENST00000282570.3:c.785G>A	chr2.hg19:g.70074701G>A	ENSP00000282570:p.Gly262Asp		Q9H826|Q9H8V7|Q9H927	Missense_Mutation	SNP	ENST00000282570.3	hg19	CCDS1895.1	.	.	.	.	.	.	.	.	.	.	G	8.869	0.948779	0.18356	.	.	ENSG00000087338	ENST00000282570	T	0.68331	-0.32	4.84	4.84	0.62591	BTB/Kelch-associated (2);	0.416817	0.27936	N	0.017242	T	0.47563	0.1452	N	0.14661	0.345	0.31480	N	0.667243	B	0.06786	0.001	B	0.12837	0.008	T	0.49234	-0.8961	10	0.29301	T	0.29	-2.464	11.2063	0.48771	0.0:0.1853:0.8147:0.0	.	262	Q96IK5	GMCL1_HUMAN	D	262	ENSP00000282570:G262D	ENSP00000282570:G262D	G	+	2	0	GMCL1	69928205	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.322000	0.59215	2.509000	0.84616	0.650000	0.86243	GGT		0.358	GMCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251841.2	NM_178439		A	70074701	G	A	70074701	3	1	799	1	0	0	0	0	1	0	0	0	6487	1261	44	2	811	2	GMCL1	2	70074701	Missense_Mutation	SNP	G	TCGA-UZ-A9PK-01A-11D-A382-10		70074701	173124672	6	47587											
PTCD3	55037	hgsc.bcm.edu	37	2	86352186	86352186	+	Missense_Mutation	SNP	T	T	C			TCGA-UZ-A9PK-01A-11D-A382-10	TCGA-UZ-A9PK-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9cb79cdb-d48d-4fd8-bdce-1f969be4a55f	36e67294-52d8-43b6-a9c0-0ed08f740cb3	g.chr2:86352186T>C	ENST00000254630.7	+	10	851	c.785T>C	c.(784-786)aTg>aCg	p.M262T	PTCD3_ENST00000409277.3_3'UTR	NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3	262					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						TATTGCACAATGATCCGAGGA	0.388																																																0													94	89	91					2																	86352186		2203	4300	6503	SO:0001583	missense	55037				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.785T>C	chr2.hg19:g.86352186T>C	ENSP00000254630:p.Met262Thr		A6NHD2|D6W5M1|Q597H0|Q658Y9|Q9BUZ8|Q9NWL0	Missense_Mutation	SNP	ENST00000254630.7	hg19	CCDS33235.1	.	.	.	.	.	.	.	.	.	.	T	19.09	3.758936	0.69763	.	.	ENSG00000132300	ENST00000254630	T	0.27104	1.69	5.63	5.63	0.86233	.	0.189515	0.56097	D	0.000027	T	0.53449	0.1797	M	0.92459	3.31	0.80722	D	1	P	0.45634	0.863	P	0.52514	0.701	T	0.65269	-0.6209	10	0.87932	D	0	-13.1111	14.8254	0.70107	0.0:0.0:0.0:1.0	.	262	Q96EY7	PTCD3_HUMAN	T	262	ENSP00000254630:M262T	ENSP00000254630:M262T	M	+	2	0	PTCD3	86205697	1.000000	0.71417	0.962000	0.40283	0.976000	0.68499	6.686000	0.74548	2.145000	0.66743	0.533000	0.62120	ATG		0.388	PTCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329854.1	NM_017952		C	86352186	T	C	86352186	3	2	799	1	0	0	0	0	1	0	0	0	12734	1464	51	3	823	3	PTCD3	2	86352186	Missense_Mutation	SNP	T	TCGA-UZ-A9PK-01A-11D-A382-10	16277485	86352186	156847187	7	47588											
MPP4	58538	hgsc.bcm.edu	37	2	202514863	202514863	+	Nonsense_Mutation	SNP	G	G	T	rs376163949		TCGA-UZ-A9PK-01A-11D-A382-10	TCGA-UZ-A9PK-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9cb79cdb-d48d-4fd8-bdce-1f969be4a55f	36e67294-52d8-43b6-a9c0-0ed08f740cb3	g.chr2:202514863G>T	ENST00000409474.3	-	19	1614	c.1407C>A	c.(1405-1407)taC>taA	p.Y469*	MPP4_ENST00000428900.2_Nonsense_Mutation_p.Y445*|MPP4_ENST00000315506.7_Nonsense_Mutation_p.Y425*|MPP4_ENST00000447335.2_Nonsense_Mutation_p.Y462*|MPP4_ENST00000396886.3_Nonsense_Mutation_p.Y394*|MPP4_ENST00000409143.1_Nonsense_Mutation_p.Y411*|MPP4_ENST00000359962.5_Nonsense_Mutation_p.Y469*	NM_033066.2	NP_149055	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)	469	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				protein localization to synapse (GO:0035418)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|presynaptic membrane (GO:0042734)		p.Y469Y(1)		kidney(1)|lung(11)	12						CATTCATTTCGTAACTCTTTT	0.353																																																1	Substitution - coding silent(1)	breast(1)											104	90	95					2																	202514863		1844	4088	5932	SO:0001587	stop_gained	58538			AF316032	CCDS46491.1	2q33.2	2008-05-15			ENSG00000082126	ENSG00000082126			13680	protein-coding gene	gene with protein product		606575		DLG6		11414766	Standard	NM_033066		Approved		uc002uyk.4	Q96JB8	OTTHUMG00000154525	ENST00000409474.3:c.1407C>A	chr2.hg19:g.202514863G>T	ENSP00000387278:p.Tyr469*		C9IZK4|Q53TT3|Q6ZNH6|Q96Q43|Q96Q44	Nonsense_Mutation	SNP	ENST00000409474.3	hg19	CCDS46491.1	.	.	.	.	.	.	.	.	.	.	A	38	6.664329	0.97747	.	.	ENSG00000082126	ENST00000409474;ENST00000315506;ENST00000396886;ENST00000359962;ENST00000315549;ENST00000374605;ENST00000428900;ENST00000409143;ENST00000447335	.	.	.	5.51	5.51	0.81932	.	0.371594	0.28859	N	0.013908	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.6368	0.51209	0.9312:0.0:0.0688:0.0	.	.	.	.	X	469;425;394;469;434;398;445;411;462	.	ENSP00000319363:Y425X	Y	-	3	2	MPP4	202223108	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	1.191000	0.32138	1.113000	0.41760	-0.361000	0.07541	TAC		0.353	MPP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335748.2			T	202514863	G	T	202514863	4	4	799	1	0	0	0	0	0	1	0	0	9738	1140	40	4	522	4	MPP4	2	202514863	Nonsense_Mutation	SNP	G	TCGA-UZ-A9PK-01A-11D-A382-10	116162677	202514863	40684510	8	47589											
LRRFIP2	9209	hgsc.bcm.edu	37	3	37107344	37107344	+	Missense_Mutation	SNP	C	C	A			TCGA-UZ-A9PK-01A-11D-A382-10	TCGA-UZ-A9PK-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9cb79cdb-d48d-4fd8-bdce-1f969be4a55f	36e67294-52d8-43b6-a9c0-0ed08f740cb3	g.chr3:37107344C>A	ENST00000336686.4	-	23	1736	c.1656G>T	c.(1654-1656)caG>caT	p.Q552H	MLH1_ENST00000536378.1_3'UTR|LRRFIP2_ENST00000440230.1_Missense_Mutation_p.Q255H|LRRFIP2_ENST00000421276.2_Missense_Mutation_p.Q255H|LRRFIP2_ENST00000396428.2_Missense_Mutation_p.Q334H|LRRFIP2_ENST00000354379.4_Missense_Mutation_p.Q231H|LRRFIP2_ENST00000421307.1_Missense_Mutation_p.Q552H			Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	552					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						GAGCAGCTTCCTGAGACACAA	0.493																																																1	Whole gene deletion(1)	ovary(1)											99	98	99					3																	37107344		2203	4300	6503	SO:0001583	missense	9209			AF115509	CCDS2664.1, CCDS2665.1, CCDS46791.1, CCDS63592.1	3p22.1	2008-07-18			ENSG00000093167	ENSG00000093167			6703	protein-coding gene	gene with protein product		614043				10366446	Standard	NM_017724		Approved	HUFI-2	uc003cgp.2	Q9Y608	OTTHUMG00000130796	ENST00000336686.4:c.1656G>T	chr3.hg19:g.37107344C>A	ENSP00000338727:p.Gln552His		A8K649|A8MXR0|B4DY63|Q68CV3|Q9NXH5	Missense_Mutation	SNP	ENST00000336686.4	hg19	CCDS2664.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.92|19.92	3.915615|3.915615	0.73098|0.73098	.|.	.|.	ENSG00000093167|ENSG00000093167	ENST00000440742|ENST00000421307;ENST00000354379;ENST00000336686;ENST00000421276;ENST00000396428;ENST00000440230	.|T;T;T;T;T;T	.|0.44881	.|0.91;0.91;0.91;0.91;0.91;0.91	6.17|6.17	5.3|5.3	0.74995|0.74995	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.62732	.|0.2452	M|M	0.76328|0.76328	2.33|2.33	0.58432|0.58432	D|D	0.999997|0.999997	.|D;D;D;D	.|0.71674	.|0.995;0.996;0.994;0.998	.|D;D;D;D	.|0.85130	.|0.978;0.93;0.964;0.997	.|T	.|0.66256	.|-0.5969	.|10	.|0.66056	.|D	.|0.02	-6.844|-6.844	11.0179|11.0179	0.47701|0.47701	0.0:0.8037:0.13:0.0663|0.0:0.8037:0.13:0.0663	.|.	.|334;231;255;552	.|A8MXR0;Q9Y608-2;Q9Y608-4;Q9Y608	.|.;.;.;LRRF2_HUMAN	X|H	134|552;231;552;255;334;255	.|ENSP00000392217:Q552H;ENSP00000346349:Q231H;ENSP00000338727:Q552H;ENSP00000416364:Q255H;ENSP00000379705:Q334H;ENSP00000405480:Q255H	.|ENSP00000338727:Q552H	G|Q	-|-	1|3	0|2	LRRFIP2|LRRFIP2	37082348|37082348	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	1.849000|1.849000	0.39318|0.39318	1.616000|1.616000	0.50265|0.50265	0.655000|0.655000	0.94253|0.94253	GGA|CAG		0.493	LRRFIP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253335.3	NM_006309		A	37107344	C	A	37107344	3	1	799	1	0	0	0	0	1	0	0	0	9030	680	24	4	533	4	LRRFIP2	3	37107344	Missense_Mutation	SNP	C	TCGA-UZ-A9PK-01A-11D-A382-10		37107344	160915086	9	47590											
DLEC1	30	hgsc.bcm.edu	37	3	38163861	38163861	+	IGR	SNP	A	A	G			TCGA-UZ-A9PK-01A-11D-A382-10	TCGA-UZ-A9PK-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9cb79cdb-d48d-4fd8-bdce-1f969be4a55f	36e67294-52d8-43b6-a9c0-0ed08f740cb3	g.chr3:38163861A>G	ENST00000333167.8	-	0	1785				DLEC1_ENST00000346219.3_Missense_Mutation_p.K1701R|DLEC1_ENST00000452631.2_Silent_p.Q1745Q|ACAA1_ENST00000480865.1_5'Flank|DLEC1_ENST00000308059.6_Silent_p.Q1742Q|Y_RNA_ENST00000365095.1_RNA	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)		TCCGGGGCCAAGGCTCCTATG	0.622																																																0													59	64	62					3																	38163861		2019	4189	6208	SO:0001628	intergenic_variant	9940			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		chr3.hg19:g.38163861A>G			G5E935|Q96CA6	Missense_Mutation	SNP	ENST00000333167.8	hg19	CCDS2673.1	.	.	.	.	.	.	.	.	.	.	A	19.59	3.856224	0.71834	.	.	ENSG00000008226	ENST00000346219	T	0.05786	3.39	4.86	-2.38	0.06622	.	1.890310	0.02332	N	0.074018	T	0.06188	0.0160	.	.	.	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.24764	-1.0151	9	0.87932	D	0	0.102	5.6407	0.17562	0.3921:0.2598:0.3481:0.0	.	1701	Q9Y238-3	.	R	1701	ENSP00000315914:K1701R	ENSP00000315914:K1701R	K	+	2	0	DLEC1	38138865	0.000000	0.05858	0.612000	0.29024	0.919000	0.55068	-0.264000	0.08658	-0.349000	0.08274	0.459000	0.35465	AAG		0.622	ACAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342980.1	NM_001607		G	38163861	A	G	38163861	1	3	799	0	1	0	0	0	0	0	0	0	4554	72	3	3		3	DLEC1	3	38163861	IGR	SNP	A	TCGA-UZ-A9PK-01A-11D-A382-10	1056517	38163861	159858569	10	47591											
XIRP1	165904	hgsc.bcm.edu	37	3	39229398	39229398	+	Missense_Mutation	SNP	C	C	A			TCGA-UZ-A9PK-01A-11D-A382-10	TCGA-UZ-A9PK-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9cb79cdb-d48d-4fd8-bdce-1f969be4a55f	36e67294-52d8-43b6-a9c0-0ed08f740cb3	g.chr3:39229398C>A	ENST00000340369.3	-	2	1767	c.1539G>T	c.(1537-1539)agG>agT	p.R513S	XIRP1_ENST00000396251.1_Missense_Mutation_p.R513S|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	513					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)		CAAACATCCACCTGTAGCCCT	0.627																																																0													94	87	90					3																	39229398		2203	4300	6503	SO:0001583	missense	165904			AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"cardiomyopathy associated 1"	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.1539G>T	chr3.hg19:g.39229398C>A	ENSP00000343140:p.Arg513Ser		A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	ENST00000340369.3	hg19	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.290208	0.40494	.	.	ENSG00000168334	ENST00000396251;ENST00000340369	T;T	0.38401	1.14;1.14	5.17	2.37	0.29283	.	0.299854	0.34291	N	0.004084	T	0.43299	0.1241	M	0.64170	1.965	0.80722	D	1	D;P	0.58268	0.982;0.828	P;B	0.55055	0.767;0.234	T	0.31052	-0.9957	10	0.87932	D	0	.	4.8529	0.13545	0.0:0.5878:0.1562:0.2559	.	513;513	Q702N8;Q702N8-2	XIRP1_HUMAN;.	S	513	ENSP00000379550:R513S;ENSP00000343140:R513S	ENSP00000343140:R513S	R	-	3	2	XIRP1	39204402	1.000000	0.71417	0.983000	0.44433	0.949000	0.60115	1.046000	0.30354	0.283000	0.22279	0.655000	0.94253	AGG		0.627	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		A	39229398	C	A	39229398	3	1	799	1	0	0	0	0	1	0	0	0	17434	506	18	4	3996	4	XIRP1	3	39229398	Missense_Mutation	SNP	C	TCGA-UZ-A9PK-01A-11D-A382-10	1065537	39229398	158793032	11	47592											
BAP1	8314	hgsc.bcm.edu	37	3	52439133	52439133	+	Missense_Mutation	SNP	G	G	T			TCGA-UZ-A9PK-01A-11D-A382-10	TCGA-UZ-A9PK-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9cb79cdb-d48d-4fd8-bdce-1f969be4a55f	36e67294-52d8-43b6-a9c0-0ed08f740cb3	g.chr3:52439133G>T	ENST00000460680.1	-	11	1580	c.1109C>A	c.(1108-1110)cCc>cAc	p.P370H	BAP1_ENST00000296288.5_Missense_Mutation_p.P352H	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		TACCTGCATGGGGGACTTGGC	0.542			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"																															GBM(101;493 1458 7992 21037 25532)		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	0													85	95	92					3																	52439133		2203	4300	6503	SO:0001583	missense	8314			AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.1109C>A	chr3.hg19:g.52439133G>T	ENSP00000417132:p.Pro370His		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Missense_Mutation	SNP	ENST00000460680.1	hg19	CCDS2853.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.042149	0.93685	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	T;T	0.75260	-0.81;-0.92	5.72	5.72	0.89469	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (1);	0.000000	0.85682	D	0.000000	D	0.85168	0.5635	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.85506	0.1194	10	0.72032	D	0.01	-9.2799	19.885	0.96909	0.0:0.0:1.0:0.0	.	370	Q92560	BAP1_HUMAN	H	370;352	ENSP00000417132:P370H;ENSP00000296288:P352H	ENSP00000296288:P352H	P	-	2	0	BAP1	52414173	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.768000	0.98965	2.705000	0.92388	0.655000	0.94253	CCC		0.542	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1			T	52439133	G	T	52439133	3	4	799	1	0	0	0	0	1	0	0	0	1311	1232	43	4	1108	4	BAP1	3	52439133	Missense_Mutation	SNP	G	TCGA-UZ-A9PK-01A-11D-A382-10	13209735	52439133	145583297	12	47593											
LRRIQ4	344657	hgsc.bcm.edu	37	3	169539716	169539716	+	Nonsense_Mutation	SNP	A	A	T			TCGA-UZ-A9PK-01A-11D-A382-10	TCGA-UZ-A9PK-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9cb79cdb-d48d-4fd8-bdce-1f969be4a55f	36e67294-52d8-43b6-a9c0-0ed08f740cb3	g.chr3:169539716A>T	ENST00000340806.6	+	1	7	c.7A>T	c.(7-9)Aaa>Taa	p.K3*		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	3										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						AATAATGTCAAAAGACATAAA	0.318																																																0													43	40	41					3																	169539716		1833	4086	5919	SO:0001587	stop_gained	344657				CCDS46951.1	3q26.2	2008-08-08	2008-06-12	2008-06-12	ENSG00000188306	ENSG00000188306			34298	protein-coding gene	gene with protein product	"leucine rich repeat containing 64"						Standard	NM_001080460		Approved	LRRC64	uc003fgb.3	A6NIV6	OTTHUMG00000164420	ENST00000340806.6:c.7A>T	chr3.hg19:g.169539716A>T	ENSP00000342188:p.Lys3*			Nonsense_Mutation	SNP	ENST00000340806.6	hg19	CCDS46951.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.138694	0.77775	.	.	ENSG00000188306	ENST00000340806	.	.	.	5.39	1.69	0.24217	.	2.757410	0.00853	N	0.001846	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.3243	0.26547	0.7289:0.0:0.2711:0.0	.	.	.	.	X	3	.	ENSP00000342188:K3X	K	+	1	0	LRRIQ4	171022410	0.056000	0.20664	0.001000	0.08648	0.060000	0.15804	1.033000	0.30191	0.442000	0.26555	0.459000	0.35465	AAA		0.318	LRRIQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378698.1	NM_001080460		T	169539716	A	T	169539716	4	4	799	1	0	0	0	0	0	1	0	0	9033	15	1	5	9	5	LRRIQ4	3	169539716	Nonsense_Mutation	SNP	A	TCGA-UZ-A9PK-01A-11D-A382-10	117100583	169539716	28482714	13	47594											
NAALADL2	254827	hgsc.bcm.edu	37	3	175184939	175184939	+	Frame_Shift_Del	DEL	T	T	-			TCGA-UZ-A9PK-01A-11D-A382-10	TCGA-UZ-A9PK-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9cb79cdb-d48d-4fd8-bdce-1f969be4a55f	36e67294-52d8-43b6-a9c0-0ed08f740cb3	g.chr3:175184939delT	ENST00000454872.1	+	8	1628	c.1500delT	c.(1498-1500)gctfs	p.A500fs	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	500						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)		GAGGAACAGCTTTTGGCAATA	0.383																																																0													71	68	69					3																	175184939		1876	4108	5984	SO:0001589	frameshift_variant	254827				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.1500delT	chr3.hg19:g.175184939delT	ENSP00000404705:p.Ala500fs		Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Frame_Shift_Del	DEL	ENST00000454872.1	hg19	CCDS46960.1																																																																																				0.383	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347390.2	NM_207015		-	175184939	T	-	175184939	7	5	799	1	0	1	0	1	0	0	0	0	10132	1596	56	0	1530	0	NAALADL2	3	175184939	Frame_Shift_Del	DEL	T	TCGA-UZ-A9PK-01A-11D-A382-10	5645223	175184939	22837491	14	47595											
DGKQ	1609	hgsc.bcm.edu	37	4	959714	959715	+	Splice_Site	INS	-	-	C			TCGA-UZ-A9PK-01A-11D-A382-10	TCGA-UZ-A9PK-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9cb79cdb-d48d-4fd8-bdce-1f969be4a55f	36e67294-52d8-43b6-a9c0-0ed08f740cb3	g.chr4:959714_959715insC	ENST00000273814.3	-	13	1653		c.e13+1		DGKQ_ENST00000502309.1_Intron	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa						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)			CAGTGGTCACACCTTTGGTAGC	0.688																																					Esophageal Squamous(17;537 645 4447 26373)											0																																										SO:0001630	splice_region_variant	1609			L38707	CCDS3342.1	4p16.3	2008-08-29	2002-08-29		ENSG00000145214	ENSG00000145214			2856	protein-coding gene	gene with protein product		601207	"diacylglycerol kinase, theta (110kD)"	DAGK4		8617502, 9099683	Standard	NM_001347		Approved	DAGK, DAGK7	uc003gbw.4	P52824	OTTHUMG00000088629	ENST00000273814.3:c.1579+1->G	chr4.hg19:g.959716_959716dupC			Q6P3W4	Splice_Site	INS	ENST00000273814.3	hg19	CCDS3342.1																																																																																				0.688	DGKQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000200888.1		Intron	C	959715	-	C	959714	8	5	799	1	0	1	1	0	0	0	1	0	4475	173	6	0	1291	0	DGKQ	4	959714	Splice_Site	INS	-	TCGA-UZ-A9PK-01A-11D-A382-10		959714	190194562	15	47596											
LEF1	51176	hgsc.bcm.edu	37	4	108999439	108999439	+	Silent	SNP	C	C	T	rs375238109		TCGA-UZ-A9PK-01A-11D-A382-10	TCGA-UZ-A9PK-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9cb79cdb-d48d-4fd8-bdce-1f969be4a55f	36e67294-52d8-43b6-a9c0-0ed08f740cb3	g.chr4:108999439C>T	ENST00000265165.1	-	8	1599	c.945G>A	c.(943-945)gcG>gcA	p.A315A	LEF1_ENST00000510624.1_Silent_p.A219A|LEF1_ENST00000438313.2_Silent_p.A287A|LEF1_ENST00000503879.1_5'UTR|LEF1_ENST00000379951.2_Silent_p.A287A	NM_016269.4	NP_057353.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	315					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)		CAACGACATTCGCTCTCATTT	0.428																																																0								T	,,,	1,4405	2.1+/-5.4	0,1,2202	270	266	268		861,861,657,945	-6.5	0.8	4		268	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	LEF1	NM_001130713.2,NM_001130714.2,NM_001166119.1,NM_016269.4	,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,	287/372,287/387,219/304,315/400	108999439	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51176				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.945G>A	chr4.hg19:g.108999439C>T			B4DG38|B7Z8E2|E9PDK3|Q3ZCU4|Q9HAZ0	Silent	SNP	ENST00000265165.1	hg19	CCDS3679.1																																																																																				0.428	LEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254749.2			T	108999439	C	T	108999439	2	4	799	1	0	0	0	0	0	0	0	1	8716	871	31	1		1	LEF1	4	108999439	Silent	SNP	C	TCGA-UZ-A9PK-01A-11D-A382-10	108039725	108999439	82154837	16	47597											
NDST4	64579	hgsc.bcm.edu	37	4	115997318	115997318	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9PK-01A-11D-A382-10	TCGA-UZ-A9PK-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9cb79cdb-d48d-4fd8-bdce-1f969be4a55f	36e67294-52d8-43b6-a9c0-0ed08f740cb3	g.chr4:115997318G>A	ENST00000264363.2	-	2	1553	c.875C>T	c.(874-876)tCa>tTa	p.S292L		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	292	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)		CCTCTTCCCTGACAAGAAGGA	0.433																																																0													172	154	160					4																	115997318		2203	4300	6503	SO:0001583	missense	64579			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.875C>T	chr4.hg19:g.115997318G>A	ENSP00000264363:p.Ser292Leu		Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	hg19	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.641655	0.87859	.	.	ENSG00000138653	ENST00000264363	T	0.37915	1.17	5.79	5.79	0.91817	.	0.058271	0.64402	D	0.000001	T	0.60051	0.2239	M	0.72894	2.215	0.80722	D	1	P	0.40266	0.71	P	0.56216	0.794	T	0.59118	-0.7514	10	0.87932	D	0	.	20.0367	0.97561	0.0:0.0:1.0:0.0	.	292	Q9H3R1	NDST4_HUMAN	L	292	ENSP00000264363:S292L	ENSP00000264363:S292L	S	-	2	0	NDST4	116216767	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.807000	0.99171	2.727000	0.93392	0.591000	0.81541	TCA		0.433	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		A	115997318	G	A	115997318	3	1	799	1	0	0	0	0	1	0	0	0	10260	1294	45	2	1795	2	NDST4	4	115997318	Missense_Mutation	SNP	G	TCGA-UZ-A9PK-01A-11D-A382-10	6997879	115997318	75156958	17	47598											
TIGD6	81789	hgsc.bcm.edu	37	5	149375126	149375127	+	Frame_Shift_Ins	INS	-	-	T			TCGA-UZ-A9PK-01A-11D-A382-10	TCGA-UZ-A9PK-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9cb79cdb-d48d-4fd8-bdce-1f969be4a55f	36e67294-52d8-43b6-a9c0-0ed08f740cb3	g.chr5:149375126_149375127insT	ENST00000296736.3	-	2	1559_1560	c.785_786insA	c.(784-786)aatfs	p.N262fs	TIGD6_ENST00000515406.2_Frame_Shift_Ins_p.N262fs	NM_030953.3	NP_112215.1	Q17RP2	TIGD6_HUMAN	tigger transposable element derived 6	262	DDE.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|stomach(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TCAGCCACTCATTAAACAGATC	0.525																																																0																																										SO:0001589	frameshift_variant	81789			AK056604	CCDS4301.1	5q33.1	2008-02-05			ENSG00000164296	ENSG00000164296			18332	protein-coding gene	gene with protein product						11230166	Standard	NM_030953		Approved	DKFZp761E2110	uc003lrj.3	Q17RP2	OTTHUMG00000130045	ENST00000296736.3:c.786dupA	chr5.hg19:g.149375128_149375128dupT	ENSP00000296736:p.Asn262fs		B3KTZ8|Q96MQ4|Q9H0X7	Frame_Shift_Ins	INS	ENST00000296736.3	hg19	CCDS4301.1																																																																																				0.525	TIGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252324.1	NM_030953		T	149375127	-	T	149375126	7	5	799	1	0	1	1	0	0	0	0	0	15905	214	8	0	783	0	TIGD6	5	149375126	Frame_Shift_Ins	INS	-	TCGA-UZ-A9PK-01A-11D-A382-10		149375126	31540134	18	47599											
FAM71B	153745	hgsc.bcm.edu	37	5	156592638	156592638	+	Missense_Mutation	SNP	C	C	G			TCGA-UZ-A9PK-01A-11D-A382-10	TCGA-UZ-A9PK-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9cb79cdb-d48d-4fd8-bdce-1f969be4a55f	36e67294-52d8-43b6-a9c0-0ed08f740cb3	g.chr5:156592638C>G	ENST00000302938.4	-	1	637	c.542G>C	c.(541-543)aGt>aCt	p.S181T		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	181						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)			ACTGCAGTAACTCTCTACTGG	0.493																																																0													174	175	175					5																	156592638		2203	4300	6503	SO:0001583	missense	153745				CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.542G>C	chr5.hg19:g.156592638C>G	ENSP00000305596:p.Ser181Thr		Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	hg19	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.269023	0.40095	.	.	ENSG00000170613	ENST00000302938	T	0.16196	2.36	4.56	1.49	0.22878	.	0.531595	0.18243	N	0.147193	T	0.24661	0.0598	L	0.43923	1.385	0.09310	N	1	D	0.76494	0.999	D	0.74023	0.982	T	0.06752	-1.0809	10	0.30078	T	0.28	-10.0605	4.4562	0.11643	0.0:0.6087:0.1849:0.2064	.	181	Q8TC56	FA71B_HUMAN	T	181	ENSP00000305596:S181T	ENSP00000305596:S181T	S	-	2	0	FAM71B	156525216	0.010000	0.17322	0.007000	0.13788	0.003000	0.03518	0.949000	0.29109	0.599000	0.29845	-0.136000	0.14681	AGT		0.493	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		G	156592638	C	G	156592638	3	3	799	1	0	0	0	0	1	0	0	0	5610	565	20	4	1283	4	FAM71B	5	156592638	Missense_Mutation	SNP	C	TCGA-UZ-A9PK-01A-11D-A382-10	7217512	156592638	24322622	19	47600											
CYFIP2	26999	hgsc.bcm.edu	37	5	156738675	156738675	+	Missense_Mutation	SNP	G	G	T			TCGA-UZ-A9PK-01A-11D-A382-10	TCGA-UZ-A9PK-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9cb79cdb-d48d-4fd8-bdce-1f969be4a55f	36e67294-52d8-43b6-a9c0-0ed08f740cb3	g.chr5:156738675G>T	ENST00000521420.1	+	10	1009	c.918G>T	c.(916-918)tgG>tgT	p.W306C	CYFIP2_ENST00000522463.1_Missense_Mutation_p.W136C|CYFIP2_ENST00000435847.2_Missense_Mutation_p.W6C|CYFIP2_ENST00000377576.3_Missense_Mutation_p.W332C|CYFIP2_ENST00000347377.6_Missense_Mutation_p.W332C|CYFIP2_ENST00000318218.6_Missense_Mutation_p.W332C|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000541131.1_Missense_Mutation_p.W257C					cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TACCCAGGTGGACGTGCACCC	0.602																																																0													32	34	33					5																	156738675		2134	4251	6385	SO:0001583	missense	26999			AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"p53 inducible protein"	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.918G>T	chr5.hg19:g.156738675G>T	ENSP00000430904:p.Trp306Cys			Missense_Mutation	SNP	ENST00000521420.1	hg19		.	.	.	.	.	.	.	.	.	.	G	22.8	4.331186	0.81690	.	.	ENSG00000055163	ENST00000318218;ENST00000522463;ENST00000521420;ENST00000347377;ENST00000377576;ENST00000541131;ENST00000435847	T;T;T;T;T;T;T	0.45276	2.07;2.07;2.09;2.09;2.09;2.09;0.9	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.66703	0.2816	M	0.77486	2.375	0.80722	D	1	D;D;P;D;D;P	0.89917	1.0;1.0;0.719;1.0;1.0;0.943	D;D;B;D;D;D	0.97110	1.0;1.0;0.222;0.998;0.999;0.941	T	0.65047	-0.6263	10	0.34782	T	0.22	-13.0951	19.0225	0.92920	0.0:0.0:1.0:0.0	.	196;136;306;332;332;332	A8MUM2;E7EW33;E7EVJ5;E7EVF4;Q96F07-2;Q96F07	.;.;.;.;.;CYFP2_HUMAN	C	332;136;306;332;332;257;6	ENSP00000325817:W332C;ENSP00000428009:W136C;ENSP00000430904:W306C;ENSP00000313567:W332C;ENSP00000366799:W332C;ENSP00000444645:W257C;ENSP00000403793:W6C	ENSP00000325817:W332C	W	+	3	0	CYFIP2	156671253	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	9.792000	0.99085	2.496000	0.84212	0.655000	0.94253	TGG		0.602	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1	NM_001037332		T	156738675	G	T	156738675	3	4	799	1	0	0	0	0	1	0	0	0	4140	1183	41	4	1034	4	CYFIP2	5	156738675	Missense_Mutation	SNP	G	TCGA-UZ-A9PK-01A-11D-A382-10	146037	156738675	24176585	20	47601											
LRFN2	57497	hgsc.bcm.edu	37	6	40399746	40399746	+	Silent	SNP	C	C	T			TCGA-UZ-A9PK-01A-11D-A382-10	TCGA-UZ-A9PK-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9cb79cdb-d48d-4fd8-bdce-1f969be4a55f	36e67294-52d8-43b6-a9c0-0ed08f740cb3	g.chr6:40399746C>T	ENST00000338305.6	-	2	1649	c.1107G>A	c.(1105-1107)acG>acA	p.T369T		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	369	Ig-like.					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)					CCACCATGGCCGTGGCCTCTC	0.607																																																0													62	45	51					6																	40399746		2203	4300	6503	SO:0001819	synonymous_variant	57497			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.1107G>A	chr6.hg19:g.40399746C>T			A5PKU3|Q5SYP9	Silent	SNP	ENST00000338305.6	hg19	CCDS34443.1																																																																																				0.607	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	XM_166372		T	40399746	C	T	40399746	2	4	799	1	0	0	0	0	0	0	0	1	8940	639	23	1		1	LRFN2	6	40399746	Silent	SNP	C	TCGA-UZ-A9PK-01A-11D-A382-10		40399746	130715321	21	47602											
LCA5	167691	hgsc.bcm.edu	37	6	80223369	80223369	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9PK-01A-11D-A382-10	TCGA-UZ-A9PK-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9cb79cdb-d48d-4fd8-bdce-1f969be4a55f	36e67294-52d8-43b6-a9c0-0ed08f740cb3	g.chr6:80223369G>A	ENST00000392959.1	-	4	891	c.280C>T	c.(280-282)Cgg>Tgg	p.R94W	LCA5_ENST00000467898.3_Missense_Mutation_p.R94W|LCA5_ENST00000369846.4_Missense_Mutation_p.R94W	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	94					intraciliary transport (GO:0042073)|photoreceptor cell maintenance (GO:0045494)|protein transport (GO:0015031)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein complex binding (GO:0032403)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		GTATCTTTCCGAAGTGGCTCT	0.453																																																0													153	163	160					6																	80223369		2203	4299	6502	SO:0001583	missense	167691				CCDS4990.1	6q14	2014-01-28			ENSG00000135338	ENSG00000135338			31923	protein-coding gene	gene with protein product	"lebercilin"	611408	"chromosome 6 open reading frame 152"	C6orf152		10631161, 17546029	Standard	NM_181714		Approved		uc003pix.3	Q86VQ0	OTTHUMG00000015080	ENST00000392959.1:c.280C>T	chr6.hg19:g.80223369G>A	ENSP00000376686:p.Arg94Trp		E1P542|Q9BWX7	Missense_Mutation	SNP	ENST00000392959.1	hg19	CCDS4990.1	.	.	.	.	.	.	.	.	.	.	G	9.229	1.035405	0.19590	.	.	ENSG00000135338	ENST00000369846;ENST00000392959	T;T	0.33216	1.42;1.42	6.07	3.32	0.38043	.	0.549102	0.20451	N	0.092094	T	0.06690	0.0171	N	0.22421	0.69	0.29390	N	0.862704	B;B	0.17465	0.022;0.004	B;B	0.09377	0.004;0.002	T	0.23904	-1.0175	10	0.54805	T	0.06	-0.1203	4.3299	0.11059	0.141:0.1334:0.6021:0.1235	.	94;94	B4DRL2;Q86VQ0	.;LCA5_HUMAN	W	94	ENSP00000358861:R94W;ENSP00000376686:R94W	ENSP00000358861:R94W	R	-	1	2	LCA5	80280088	0.999000	0.42202	0.997000	0.53966	0.177000	0.22998	1.043000	0.30316	0.439000	0.26476	0.655000	0.94253	CGG		0.453	LCA5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259269.1	NM_181714		A	80223369	G	A	80223369	3	1	799	1	0	0	0	0	1	0	0	0	8658	1057	37	1	1837	1	LCA5	6	80223369	Missense_Mutation	SNP	G	TCGA-UZ-A9PK-01A-11D-A382-10	39823623	80223369	90891698	22	47603											
GFRA2	2675	hgsc.bcm.edu	37	8	21560336	21560336	+	Missense_Mutation	SNP	G	G	C	rs76990589		TCGA-UZ-A9PK-01A-11D-A382-10	TCGA-UZ-A9PK-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9cb79cdb-d48d-4fd8-bdce-1f969be4a55f	36e67294-52d8-43b6-a9c0-0ed08f740cb3	g.chr8:21560336G>C	ENST00000524240.1	-	7	1849	c.1199C>G	c.(1198-1200)aCc>aGc	p.T400S	GFRA2_ENST00000400782.4_Missense_Mutation_p.T295S|GFRA2_ENST00000518077.1_Missense_Mutation_p.T267S|GFRA2_ENST00000517328.1_Missense_Mutation_p.T400S	NM_001495.4	NP_001486.4	O00451	GFRA2_HUMAN	GDNF family receptor alpha 2	400					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)		CGTGCAGGTGGTGATGACACT	0.632																																																0													79	86	83					8																	21560336		2102	4221	6323	SO:0001583	missense	2675			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.1199C>G	chr8.hg19:g.21560336G>C	ENSP00000428518:p.Thr400Ser		E9PD47|O15316|O15328|Q58J92|Q6GTR9|Q7Z5C2	Missense_Mutation	SNP	ENST00000524240.1	hg19	CCDS47816.1	.	.	.	.	.	.	.	.	.	.	G	6.929	0.541169	0.13250	.	.	ENSG00000168546	ENST00000524240;ENST00000400782;ENST00000517328;ENST00000518077;ENST00000517892	T;T;T;T;T	0.28069	2.05;1.64;2.05;1.63;1.64	4.88	3.99	0.46301	.	0.292251	0.33346	N	0.005012	T	0.19485	0.0468	N	0.25144	0.715	0.38692	D	0.952799	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.08055	0.002;0.003;0.0	T	0.07385	-1.0775	10	0.14252	T	0.57	-31.8924	12.7087	0.57078	0.0:0.1663:0.8337:0.0	.	267;295;400	O00451-2;E9PD47;O00451	.;.;GFRA2_HUMAN	S	400;295;400;267;295	ENSP00000428518:T400S;ENSP00000383592:T295S;ENSP00000429445:T400S;ENSP00000429206:T267S;ENSP00000429979:T295S	ENSP00000383592:T295S	T	-	2	0	GFRA2	21604616	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.820000	0.48057	1.163000	0.42636	0.561000	0.74099	ACC		0.632	GFRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376254.3	NM_001495		C	21560336	G	C	21560336	3	2	799	1	0	0	0	0	1	0	0	0	6350	1261	44	4	207	4	GFRA2	8	21560336	Missense_Mutation	SNP	G	TCGA-UZ-A9PK-01A-11D-A382-10		21560336	124803686	23	47604											
ENTPD4	9583	hgsc.bcm.edu	37	8	23306313	23306313	+	Frame_Shift_Del	DEL	A	A	-			TCGA-UZ-A9PK-01A-11D-A382-10	TCGA-UZ-A9PK-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9cb79cdb-d48d-4fd8-bdce-1f969be4a55f	36e67294-52d8-43b6-a9c0-0ed08f740cb3	g.chr8:23306313delA	ENST00000358689.4	-	3	383	c.148delT	c.(148-150)tctfs	p.S50fs	ENTPD4_ENST00000356206.6_Frame_Shift_Del_p.S50fs|ENTPD4_ENST00000417069.2_Frame_Shift_Del_p.S50fs	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	50					UDP catabolic process (GO:0006256)	cytoplasmic vesicle (GO:0031410)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)	uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		ATGACAACAGAAAAATATAAA	0.378																																																0													108	114	112					8																	23306313		2203	4300	6503	SO:0001589	frameshift_variant	9583			AJ131358	CCDS6041.1, CCDS47827.1	8p21.3	2014-05-16	2004-09-22	2004-09-22	ENSG00000197217	ENSG00000197217			14573	protein-coding gene	gene with protein product		607577	"lysosomal apyrase-like 1"	LYSAL1		10393803, 9205841	Standard	NM_001128930		Approved	LALP70, LAP70, KIAA0392, NTPDase-4, UDPase	uc003xdl.3	Q9Y227	OTTHUMG00000097852	ENST00000358689.4:c.148delT	chr8.hg19:g.23306313delA	ENSP00000351520:p.Ser50fs		D3DSS3|O15092	Frame_Shift_Del	DEL	ENST00000358689.4	hg19	CCDS6041.1																																																																																				0.378	ENTPD4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215142.1	NM_004901		-	23306313	A	-	23306313	7	5	799	1	0	1	0	1	0	0	0	0	5143	246	9	0	1746	0	ENTPD4	8	23306313	Frame_Shift_Del	DEL	A	TCGA-UZ-A9PK-01A-11D-A382-10	1745977	23306313	123057709	24	47605											
ANK1	286	hgsc.bcm.edu	37	8	41551435	41551438	+	Frame_Shift_Del	DEL	GCGC	GCGC	-			TCGA-UZ-A9PK-01A-11D-A382-10	TCGA-UZ-A9PK-10A-01D-A385-10	GCGC	GCGC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9cb79cdb-d48d-4fd8-bdce-1f969be4a55f	36e67294-52d8-43b6-a9c0-0ed08f740cb3	g.chr8:41551435_41551438delGCGC	ENST00000347528.4	-	29	3593_3596	c.3510_3513delGCGC	c.(3508-3513)ctgcgcfs	p.LR1170fs	ANK1_ENST00000396945.1_Frame_Shift_Del_p.LR1170fs|ANK1_ENST00000265709.8_Frame_Shift_Del_p.LR1211fs|ANK1_ENST00000289734.7_Frame_Shift_Del_p.LR1170fs|ANK1_ENST00000379758.2_Frame_Shift_Del_p.LR1170fs|ANK1_ENST00000352337.4_Frame_Shift_Del_p.LR1170fs|ANK1_ENST00000396942.1_Frame_Shift_Del_p.LR1170fs	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1170	ZU5 2. {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)	p.R1171H(1)		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)			TGCAAAGCAGGCGCAGGCTGGTGG	0.652																																																1	Substitution - Missense(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	286			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.3510_3513delGCGC	chr8.hg19:g.41551435_41551438delGCGC	ENSP00000339620:p.Leu1170fs		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Frame_Shift_Del	DEL	ENST00000347528.4	hg19	CCDS6119.1																																																																																				0.652	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		-	41551438	GCGC	-	41551435	7	5	799	1	0	1	0	1	0	0	0	0	620	1190	42	0	2514	0	ANK1	8	41551435	Frame_Shift_Del	DEL	GCGC	TCGA-UZ-A9PK-01A-11D-A382-10	18245122	41551435	104812587	25	47606											
NBN	4683	hgsc.bcm.edu	37	8	90965471	90965471	+	Splice_Site	SNP	C	C	T			TCGA-UZ-A9PK-01A-11D-A382-10	TCGA-UZ-A9PK-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9cb79cdb-d48d-4fd8-bdce-1f969be4a55f	36e67294-52d8-43b6-a9c0-0ed08f740cb3	g.chr8:90965471C>T	ENST00000265433.3	-	11	2000		c.e11+1		NBN_ENST00000409330.1_Splice_Site	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin						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)			ATGTTACTTACAGATATTTTG	0.343								Homologous recombination																																								0													203	198	199					8																	90965471		2203	4299	6502	SO:0001630	splice_region_variant	4683			AF058696	CCDS6249.1	8q21-q24	2014-09-17	2005-06-02	2005-06-02	ENSG00000104320	ENSG00000104320			7652	protein-coding gene	gene with protein product		602667	"Nijmegen breakage syndrome 1 (nibrin)"	NBS, NBS1		9590181, 9590180	Standard	XM_005250923		Approved	ATV, AT-V2, AT-V1	uc003yej.1	O60934	OTTHUMG00000153546	ENST00000265433.3:c.1845+1G>A	chr8.hg19:g.90965471C>T			B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2	Splice_Site	SNP	ENST00000265433.3	hg19	CCDS6249.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.964595	0.34659	.	.	ENSG00000104320	ENST00000265433;ENST00000409330	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4314	0.67254	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NBN	91034647	0.998000	0.40836	0.998000	0.56505	0.234000	0.25298	3.894000	0.56250	2.469000	0.83416	0.650000	0.86243	.		0.343	NBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331583.3	NM_001024688	Intron	T	90965471	C	T	90965471	5	4	799	1	0	0	0	0	0	0	1	0	10193	492	17	2	442	2	NBN	8	90965471	Splice_Site	SNP	C	TCGA-UZ-A9PK-01A-11D-A382-10	49414036	90965471	55398551	26	47607											
VPS13B	157680	hgsc.bcm.edu	37	8	100865879	100865879	+	Missense_Mutation	SNP	A	A	G			TCGA-UZ-A9PK-01A-11D-A382-10	TCGA-UZ-A9PK-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9cb79cdb-d48d-4fd8-bdce-1f969be4a55f	36e67294-52d8-43b6-a9c0-0ed08f740cb3	g.chr8:100865879A>G	ENST00000358544.2	+	56	10448	c.10337A>G	c.(10336-10338)gAg>gGg	p.E3446G	VPS13B_ENST00000357162.2_Missense_Mutation_p.E3421G|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3446					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)			TACTGTGTGGAGATCTGCTGT	0.512																																					Colon(161;2205 2542 7338 31318)											0													70	67	68					8																	100865879		2203	4300	6503	SO:0001583	missense	157680			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"Cohen syndrome 1"	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.10337A>G	chr8.hg19:g.100865879A>G	ENSP00000351346:p.Glu3446Gly		C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	hg19	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	A	18.63	3.666129	0.67700	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.70399	-0.48;-0.48	5.43	5.43	0.79202	.	0.127455	0.52532	D	0.000080	T	0.68604	0.3019	L	0.50333	1.59	0.80722	D	1	B;D	0.53619	0.095;0.961	B;B	0.44224	0.042;0.444	T	0.72827	-0.4175	10	0.56958	D	0.05	.	15.4706	0.75437	1.0:0.0:0.0:0.0	.	3421;3446	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	G	3421;3446	ENSP00000349685:E3421G;ENSP00000351346:E3446G	ENSP00000349685:E3421G	E	+	2	0	VPS13B	100935055	1.000000	0.71417	0.661000	0.29709	0.306000	0.27790	4.545000	0.60698	2.036000	0.60181	0.528000	0.53228	GAG		0.512	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		G	100865879	A	G	100865879	3	3	799	1	0	0	0	0	1	0	0	0	17195	304	11	3	10749	3	VPS13B	8	100865879	Missense_Mutation	SNP	A	TCGA-UZ-A9PK-01A-11D-A382-10	9900408	100865879	45498143	27	47608											
C9orf66	157983	hgsc.bcm.edu	37	9	214701	214701	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UZ-A9PK-01A-11D-A382-10	TCGA-UZ-A9PK-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9cb79cdb-d48d-4fd8-bdce-1f969be4a55f	36e67294-52d8-43b6-a9c0-0ed08f740cb3	g.chr9:214701G>T	ENST00000382387.2	-	1	1192	c.696C>A	c.(694-696)taC>taA	p.Y232*	DOCK8_ENST00000453981.1_5'Flank|DOCK8_ENST00000432829.2_5'Flank	NM_152569.2	NP_689782.2	Q5T8R8	CI066_HUMAN	chromosome 9 open reading frame 66	232	Arg-rich.									central_nervous_system(1)|cervix(1)|kidney(1)|skin(1)	4	all_lung(41;0.218)	all_cancers(5;2.09e-12)|all_epithelial(5;6.16e-09)|all_lung(10;1.15e-08)|Lung NSC(10;1.91e-08)|Acute lymphoblastic leukemia(5;0.00457)|all_hematologic(5;0.0332)|Breast(48;0.0646)|Prostate(43;0.137)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GTCTGCCCCAGTATCGGGAGG	0.786																																																0													4	4	4					9																	214701		1792	3538	5330	SO:0001587	stop_gained	157983			AK055720	CCDS6439.1	9p24.3	2008-02-05			ENSG00000183784	ENSG00000183784			26436	protein-coding gene	gene with protein product							Standard	NM_152569		Approved	FLJ31158	uc003zge.4	Q5T8R8	OTTHUMG00000021017	ENST00000382387.2:c.696C>A	chr9.hg19:g.214701G>T	ENSP00000371824:p.Tyr232*		Q96NB0	Nonsense_Mutation	SNP	ENST00000382387.2	hg19	CCDS6439.1	.	.	.	.	.	.	.	.	.	.	.	37	6.298205	0.97453	.	.	ENSG00000183784	ENST00000382387	.	.	.	3.91	1.81	0.25067	.	.	.	.	.	.	.	.	.	.	.	0.35445	D	0.795188	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	4.6513	0.12596	0.1264:0.227:0.6465:0.0	.	.	.	.	X	232	.	ENSP00000371824:Y232X	Y	-	3	2	C9orf66	204701	0.079000	0.21365	0.068000	0.19968	0.006000	0.05464	1.997000	0.40786	0.937000	0.37394	0.484000	0.47621	TAC		0.786	C9orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055436.1	NM_152569		T	214701	G	T	214701	4	4	799	1	0	0	0	0	0	1	0	0	2492	1024	36	4	195	4	C9orf66	9	214701	Nonsense_Mutation	SNP	G	TCGA-UZ-A9PK-01A-11D-A382-10		214701	140998730	28	47609											
DMRT3	58524	hgsc.bcm.edu	37	9	990923	990923	+	Nonsense_Mutation	SNP	C	C	G			TCGA-UZ-A9PK-01A-11D-A382-10	TCGA-UZ-A9PK-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9cb79cdb-d48d-4fd8-bdce-1f969be4a55f	36e67294-52d8-43b6-a9c0-0ed08f740cb3	g.chr9:990923C>G	ENST00000190165.2	+	2	1375	c.1337C>G	c.(1336-1338)tCa>tGa	p.S446*		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	446					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)		CCATTTGTGTCAAAGCAGTCC	0.527																																																0													91	89	90					9																	990923		2203	4300	6503	SO:0001587	stop_gained	58524			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.1337C>G	chr9.hg19:g.990923C>G	ENSP00000190165:p.Ser446*		Q7LA03|Q7LCH8|Q96SC7|Q9NRQ9	Nonsense_Mutation	SNP	ENST00000190165.2	hg19	CCDS6443.1	.	.	.	.	.	.	.	.	.	.	C	35	5.504853	0.96371	.	.	ENSG00000064218	ENST00000190165	.	.	.	5.22	5.22	0.72569	.	0.558234	0.17930	N	0.157210	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-2.7083	12.1775	0.54194	0.0:0.922:0.0:0.078	.	.	.	.	X	446	.	ENSP00000190165:S446X	S	+	2	0	DMRT3	980923	0.995000	0.38212	0.061000	0.19648	0.891000	0.51852	4.428000	0.59894	2.424000	0.82194	0.655000	0.94253	TCA		0.527	DMRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051490.1	NM_021240		G	990923	C	G	990923	4	3	799	1	0	0	0	0	0	1	0	0	4589	838	29	4	1343	4	DMRT3	9	990923	Nonsense_Mutation	SNP	C	TCGA-UZ-A9PK-01A-11D-A382-10	776222	990923	140222508	29	47610											
KCNV2	169522	hgsc.bcm.edu	37	9	2718860	2718860	+	Missense_Mutation	SNP	A	A	G			TCGA-UZ-A9PK-01A-11D-A382-10	TCGA-UZ-A9PK-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9cb79cdb-d48d-4fd8-bdce-1f969be4a55f	36e67294-52d8-43b6-a9c0-0ed08f740cb3	g.chr9:2718860A>G	ENST00000382082.3	+	1	1359	c.1121A>G	c.(1120-1122)cAg>cGg	p.Q374R		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	374					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)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		AAGGTGGGTCAGGTGTTGCGC	0.672																																																0													98	79	85					9																	2718860		2203	4300	6503	SO:0001583	missense	169522			AF348983	CCDS6447.1	9p24.2	2011-07-05			ENSG00000168263	ENSG00000168263		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	19698	protein-coding gene	gene with protein product		607604				12060745, 16382104	Standard	NM_133497		Approved	Kv8.2	uc003zho.2	Q8TDN2	OTTHUMG00000019449	ENST00000382082.3:c.1121A>G	chr9.hg19:g.2718860A>G	ENSP00000371514:p.Gln374Arg		Q5T6X0	Missense_Mutation	SNP	ENST00000382082.3	hg19	CCDS6447.1	.	.	.	.	.	.	.	.	.	.	A	14.50	2.553862	0.45487	.	.	ENSG00000168263	ENST00000382082	D	0.98164	-4.76	5.07	5.07	0.68467	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.95840	0.8646	N	0.10916	0.065	0.58432	D	0.999999	P	0.51791	0.948	P	0.56278	0.795	D	0.94056	0.7322	10	0.06625	T	0.88	.	14.8658	0.70416	1.0:0.0:0.0:0.0	.	374	Q8TDN2	KCNV2_HUMAN	R	374	ENSP00000371514:Q374R	ENSP00000371514:Q374R	Q	+	2	0	KCNV2	2708860	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	9.339000	0.96797	1.908000	0.55244	0.460000	0.39030	CAG		0.672	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051528.1	NM_133497		G	2718860	A	G	2718860	3	3	799	1	0	0	0	0	1	0	0	0	8097	188	7	3	1123	3	KCNV2	9	2718860	Missense_Mutation	SNP	A	TCGA-UZ-A9PK-01A-11D-A382-10	1727937	2718860	138494571	30	47611											
IFNK	56832	hgsc.bcm.edu	37	9	27524419	27524419	+	Missense_Mutation	SNP	G	G	T			TCGA-UZ-A9PK-01A-11D-A382-10	TCGA-UZ-A9PK-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9cb79cdb-d48d-4fd8-bdce-1f969be4a55f	36e67294-52d8-43b6-a9c0-0ed08f740cb3	g.chr9:27524419G>T	ENST00000276943.2	+	1	108	c.85G>T	c.(85-87)Gac>Tac	p.D29Y	MOB3B_ENST00000262244.5_Intron	NM_020124.2	NP_064509.2	Q9P0W0	IFNK_HUMAN	interferon, kappa	29					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|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 (GO:0030101)|natural killer cell activation involved in immune response (GO:0002323)|negative regulation of cell proliferation (GO:0008285)|positive regulation of innate immune response (GO:0045089)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of transcription, DNA-templated (GO:0006355)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			large_intestine(1)	1		all_neural(11;7.9e-11)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.000158)		CCTATCCCTGGACTGTAACTT	0.408																																																0													108	103	105					9																	27524419		2203	4300	6503	SO:0001583	missense	56832			AF384048	CCDS6521.1	9p21.2	2008-02-05			ENSG00000147896	ENSG00000147896		"Interferons"	21714	protein-coding gene	gene with protein product		615326				12391192, 11514542	Standard	NM_020124		Approved		uc003zqp.3	Q9P0W0	OTTHUMG00000019715	ENST00000276943.2:c.85G>T	chr9.hg19:g.27524419G>T	ENSP00000276943:p.Asp29Tyr		Q5T166	Missense_Mutation	SNP	ENST00000276943.2	hg19	CCDS6521.1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.010976	0.35511	.	.	ENSG00000147896	ENST00000276943	T	0.16897	2.31	5.67	-5.19	0.02832	Four-helical cytokine-like, core (1);	1.187680	0.05921	N	0.633525	T	0.30541	0.0768	M	0.76002	2.32	0.09310	N	1	D	0.62365	0.991	P	0.57324	0.818	T	0.45411	-0.9263	10	0.87932	D	0	-7.6703	6.5888	0.22636	0.43:0.3306:0.2394:0.0	.	29	Q9P0W0	IFNK_HUMAN	Y	29	ENSP00000276943:D29Y	ENSP00000276943:D29Y	D	+	1	0	IFNK	27514419	0.000000	0.05858	0.012000	0.15200	0.272000	0.26649	-1.028000	0.03589	-0.809000	0.04381	-0.300000	0.09419	GAC		0.408	IFNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051968.1	NM_020124		T	27524419	G	T	27524419	3	4	799	1	0	0	0	0	1	0	0	0	7553	1174	41	4	87	4	IFNK	9	27524419	Missense_Mutation	SNP	G	TCGA-UZ-A9PK-01A-11D-A382-10	24805559	27524419	113689012	31	47612											
NUDT2	318	hgsc.bcm.edu	37	9	34343386	34343386	+	Missense_Mutation	SNP	T	T	C	rs368502630		TCGA-UZ-A9PK-01A-11D-A382-10	TCGA-UZ-A9PK-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9cb79cdb-d48d-4fd8-bdce-1f969be4a55f	36e67294-52d8-43b6-a9c0-0ed08f740cb3	g.chr9:34343386T>C	ENST00000379158.2	+	5	750	c.392T>C	c.(391-393)aTg>aCg	p.M131T	NUDT2_ENST00000379155.5_Missense_Mutation_p.M131T|NUDT2_ENST00000346365.4_Missense_Mutation_p.M131T	NM_001161.4	NP_001152.1	P50583	AP4A_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 2	131	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				apoptotic process (GO:0006915)|nucleobase-containing compound metabolic process (GO:0006139)	mitochondrion (GO:0005739)	bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity (GO:0004081)|bis(5'-nucleosyl)-tetraphosphatase (symmetrical) activity (GO:0008803)|GTP binding (GO:0005525)			lung(3)	3			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		TTCAAGGAGATGAAGGCAGCG	0.572																																					Melanoma(95;1683 1957 4276 39813)											0								T	THR/MET,THR/MET,THR/MET	0,4406		0,0,2203	42	42	42		392,392,392	5.9	1	9		42	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	NUDT2	NM_001161.4,NM_147172.2,NM_147173.2	81,81,81	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	131/148,131/148,131/148	34343386	1,13005	2203	4300	6503	SO:0001583	missense	318			U30313	CCDS6552.1	9p13	2008-07-21			ENSG00000164978	ENSG00000164978		"Nudix motif containing"	8049	protein-coding gene	gene with protein product	"Ap4A hydrolase 1", "Ap4Aase", "bis(5'-nucleosyl)-tetraphosphatase (asymmetrical)", "diadenosine tetraphosphatase", "diadenosine 5',5''-P1,P4-tetraphosphate pyrophosphohydrolase"	602852		APAH1		7487923, 9479504	Standard	NM_001161		Approved		uc022bga.1	P50583	OTTHUMG00000019817	ENST00000379158.2:c.392T>C	chr9.hg19:g.34343386T>C	ENSP00000368455:p.Met131Thr		D3DRM0|Q5T589	Missense_Mutation	SNP	ENST00000379158.2	hg19	CCDS6552.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.243920	0.79912	0.0	1.16E-4	ENSG00000164978	ENST00000337747;ENST00000379154;ENST00000379155;ENST00000346365;ENST00000379158	T;T;T	0.07114	3.22;3.22;3.22	5.88	5.88	0.94601	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.162705	0.64402	D	0.000003	T	0.18130	0.0435	L	0.33189	0.99	0.80722	D	1	D	0.57571	0.98	D	0.81914	0.995	T	0.13202	-1.0518	10	0.14252	T	0.57	-14.7876	16.2987	0.82793	0.0:0.0:0.0:1.0	.	131	P50583	AP4A_HUMAN	T	131	ENSP00000368452:M131T;ENSP00000344187:M131T;ENSP00000368455:M131T	ENSP00000338397:M131T	M	+	2	0	NUDT2	34333386	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	7.797000	0.85911	2.257000	0.74773	0.459000	0.35465	ATG		0.572	NUDT2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052160.2	NM_001161		C	34343386	T	C	34343386	3	2	799	1	0	0	0	0	1	0	0	0	10739	1464	51	3	398	3	NUDT2	9	34343386	Missense_Mutation	SNP	T	TCGA-UZ-A9PK-01A-11D-A382-10	6818967	34343386	106870045	32	47613											
FLJ46321	389763	hgsc.bcm.edu	37	9	84607291	84607291	+	Missense_Mutation	SNP	T	T	G	rs201182137	byFrequency	TCGA-UZ-A9PK-01A-11D-A382-10	TCGA-UZ-A9PK-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9cb79cdb-d48d-4fd8-bdce-1f969be4a55f	36e67294-52d8-43b6-a9c0-0ed08f740cb3	g.chr9:84607291T>G	ENST00000344803.2	+	4	1953	c.1906T>G	c.(1906-1908)Ttg>Gtg	p.L636V		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	636					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GCAGGAAAGTTTGTGGGGCTT	0.478													G|||	3	0.000599042	0.0008	0.0	5008	,	,		19868	0.0		0.001	False		,,,				2504	0.001															0								G	VAL/LEU	0,3730		0,0,1865	101	98	99		1906	-3.7	0	9		99	1,8223		0,1,4111	no	missense	FAM75D1	NM_001001670.2	32	0,1,5976	GG,GT,TT		0.0122,0.0,0.0084	benign	636/1577	84607291	1,11953	1865	4112	5977	SO:0001583	missense	389763				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"family with sequence similarity 75, member D1"	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.1906T>G	chr9.hg19:g.84607291T>G	ENSP00000341988:p.Leu636Val			Missense_Mutation	SNP	ENST00000344803.2	hg19	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	G	4.363	0.066840	0.08388	0.0	1.22E-4	ENSG00000214929	ENST00000344803	T	0.05786	3.39	3.83	-3.67	0.04476	.	1.454400	0.04584	N	0.395509	T	0.02970	0.0088	N	0.11023	0.085	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.43261	-0.9402	10	0.16420	T	0.52	0.4754	3.7406	0.08528	0.108:0.096:0.4463:0.3497	.	636	Q6ZQQ2	F75D1_HUMAN	V	636	ENSP00000341988:L636V	ENSP00000341988:L636V	L	+	1	2	FAM75D1	83797111	0.011000	0.17503	0.002000	0.10522	0.000000	0.00434	-0.756000	0.04777	-1.293000	0.02362	-0.729000	0.03580	TTG		0.478	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		G	84607291	T	G	84607291	3	3	799	1	0	0	0	0	1	0	0	0	5934	1838	64	5	1920	5	FLJ46321	9	84607291	Missense_Mutation	SNP	T	TCGA-UZ-A9PK-01A-11D-A382-10	50263905	84607291	56606140	33	47614											
HABP4	22927	hgsc.bcm.edu	37	9	99246828	99246828	+	Silent	SNP	A	A	G			TCGA-UZ-A9PK-01A-11D-A382-10	TCGA-UZ-A9PK-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9cb79cdb-d48d-4fd8-bdce-1f969be4a55f	36e67294-52d8-43b6-a9c0-0ed08f740cb3	g.chr9:99246828A>G	ENST00000375249.4	+	6	987	c.912A>G	c.(910-912)agA>agG	p.R304R	HABP4_ENST00000375251.3_Silent_p.R199R|HABP4_ENST00000466976.1_3'UTR	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)				AACAGACCAGACCAAAGCCTG	0.398																																																0													120	113	115					9																	99246828		2203	4300	6503	SO:0001819	synonymous_variant	22927			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.912A>G	chr9.hg19:g.99246828A>G				Silent	SNP	ENST00000375249.4	hg19	CCDS6719.1																																																																																				0.398	HABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053269.1	NM_014282		G	99246828	A	G	99246828	2	3	799	1	0	0	0	0	0	0	0	1	6941	272	10	3		3	HABP4	9	99246828	Silent	SNP	A	TCGA-UZ-A9PK-01A-11D-A382-10	14639537	99246828	41966603	34	47615											
TNC	3371	hgsc.bcm.edu	37	9	117803252	117803252	+	Missense_Mutation	SNP	T	T	C			TCGA-UZ-A9PK-01A-11D-A382-10	TCGA-UZ-A9PK-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9cb79cdb-d48d-4fd8-bdce-1f969be4a55f	36e67294-52d8-43b6-a9c0-0ed08f740cb3	g.chr9:117803252T>C	ENST00000350763.4	-	19	5771	c.5360A>G	c.(5359-5361)gAa>gGa	p.E1787G	TNC_ENST00000423613.2_Missense_Mutation_p.E1514G|TNC_ENST00000341037.4_Missense_Mutation_p.E1605G|TNC_ENST00000535648.1_Missense_Mutation_p.E1332G|TNC_ENST00000340094.3_Missense_Mutation_p.E1423G|TNC_ENST00000345230.3_Missense_Mutation_p.E1150G|TNC_ENST00000542877.1_Missense_Mutation_p.E1424G|TNC_ENST00000346706.3_Missense_Mutation_p.E1241G|TNC_ENST00000537320.1_Missense_Mutation_p.E1150G	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1787	Fibronectin type-III 13. {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						AGGTTCACTTTCCTCAAAGCC	0.498																																																0													179	157	165					9																	117803252		2203	4300	6503	SO:0001583	missense	3371				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.5360A>G	chr9.hg19:g.117803252T>C	ENSP00000265131:p.Glu1787Gly		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	hg19	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	T	19.10	3.761583	0.69763	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;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;0.36	5.93	5.93	0.95920	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.79975	0.4539	M	0.93720	3.45	0.26344	N	0.977311	D;D	0.89917	1.0;1.0	D;D	0.87578	0.995;0.998	T	0.77542	-0.2549	10	0.59425	D	0.04	.	16.3789	0.83431	0.0:0.0:0.0:1.0	.	1514;1787	E9PC84;P24821	.;TENA_HUMAN	G	1423;1332;1241;1150;1787;1605;1514;1150;1424	ENSP00000344400:E1423G;ENSP00000438152:E1332G;ENSP00000344555:E1241G;ENSP00000345861:E1150G;ENSP00000265131:E1787G;ENSP00000339553:E1605G;ENSP00000411406:E1514G;ENSP00000443478:E1150G;ENSP00000442242:E1424G	ENSP00000344400:E1423G	E	-	2	0	TNC	116843073	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.679000	0.84048	2.267000	0.75376	0.533000	0.62120	GAA		0.498	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		C	117803252	T	C	117803252	3	2	799	1	0	0	0	0	1	0	0	0	16275	1783	62	3	1285	3	TNC	9	117803252	Missense_Mutation	SNP	T	TCGA-UZ-A9PK-01A-11D-A382-10	18556424	117803252	23410179	35	47616											
CUBN	8029	hgsc.bcm.edu	37	10	17107509	17107509	+	Missense_Mutation	SNP	G	G	C			TCGA-UZ-A9PK-01A-11D-A382-10	TCGA-UZ-A9PK-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9cb79cdb-d48d-4fd8-bdce-1f969be4a55f	36e67294-52d8-43b6-a9c0-0ed08f740cb3	g.chr10:17107509G>C	ENST00000377833.4	-	22	3202	c.3137C>G	c.(3136-3138)aCa>aGa	p.T1046R		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1046					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)	TTTGTTACCTGTTGCTGCACT	0.413																																																0													208	182	191					10																	17107509		2203	4300	6503	SO:0001583	missense	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.3137C>G	chr10.hg19:g.17107509G>C	ENSP00000367064:p.Thr1046Arg		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	hg19	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	9.635	1.137432	0.21123	.	.	ENSG00000107611	ENST00000377833	T	0.76578	-1.03	5.92	-3.02	0.05446	CUB (1);	1.836900	0.02981	N	0.145596	T	0.72518	0.3470	L	0.45228	1.405	0.47511	D	0.999447	B	0.20459	0.045	B	0.21151	0.033	T	0.53606	-0.8415	10	0.29301	T	0.29	.	14.9627	0.71169	0.0:0.0695:0.4674:0.4631	.	1046	O60494	CUBN_HUMAN	R	1046	ENSP00000367064:T1046R	ENSP00000367064:T1046R	T	-	2	0	CUBN	17147515	0.983000	0.35010	0.031000	0.17742	0.732000	0.41865	1.542000	0.36137	-0.299000	0.08909	0.650000	0.86243	ACA		0.413	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		C	17107509	G	C	17107509	3	2	799	1	0	0	0	0	1	0	0	0	4053	1377	48	4	7918	4	CUBN	10	17107509	Missense_Mutation	SNP	G	TCGA-UZ-A9PK-01A-11D-A382-10		17107509	118427238	36	47617											
ABCC2	1244	hgsc.bcm.edu	37	10	101605502	101605502	+	Missense_Mutation	SNP	T	T	C			TCGA-UZ-A9PK-01A-11D-A382-10	TCGA-UZ-A9PK-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9cb79cdb-d48d-4fd8-bdce-1f969be4a55f	36e67294-52d8-43b6-a9c0-0ed08f740cb3	g.chr10:101605502T>C	ENST00000370449.4	+	29	4222	c.4109T>C	c.(4108-4110)cTc>cCc	p.L1370P		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	1370	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	TCCATTGGGCTCCACGACCTC	0.507											OREG0020434	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													93	80	85					10																	101605502		2203	4300	6503	SO:0001583	missense	1244			U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"ATP binding cassette transporters / subfamily C"	53	protein-coding gene	gene with protein product		601107	"canalicular multispecific organic anion transporter 1"	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.4109T>C	chr10.hg19:g.101605502T>C	ENSP00000359478:p.Leu1370Pro	1360	B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	ENST00000370449.4	hg19	CCDS7484.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.449048	0.84101	.	.	ENSG00000023839	ENST00000370449	D	0.94457	-3.43	5.61	5.61	0.85477	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.96352	0.8810	L	0.53617	1.68	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96920	0.9673	10	0.87932	D	0	0.7125	16.1025	0.81194	0.0:0.0:0.0:1.0	.	1370	Q92887	MRP2_HUMAN	P	1370	ENSP00000359478:L1370P	ENSP00000359478:L1370P	L	+	2	0	ABCC2	101595492	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	7.994000	0.88315	2.254000	0.74563	0.533000	0.62120	CTC		0.507	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392		C	101605502	T	C	101605502	3	2	799	1	0	0	0	0	1	0	0	0	53	1551	54	3	4223	3	ABCC2	10	101605502	Missense_Mutation	SNP	T	TCGA-UZ-A9PK-01A-11D-A382-10	84497993	101605502	33929245	37	47618											
DPCD	25911	hgsc.bcm.edu	37	10	103360511	103360512	+	Frame_Shift_Ins	INS	-	-	A			TCGA-UZ-A9PK-01A-11D-A382-10	TCGA-UZ-A9PK-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9cb79cdb-d48d-4fd8-bdce-1f969be4a55f	36e67294-52d8-43b6-a9c0-0ed08f740cb3	g.chr10:103360511_103360512insA	ENST00000370151.4	+	3	211_212	c.162_163insA	c.(163-165)aaafs	p.K55fs	DPCD_ENST00000370147.1_Frame_Shift_Ins_p.K55fs|DPCD_ENST00000370148.2_Frame_Shift_Ins_p.K55fs|MIR3158-1_ENST00000583596.1_RNA	NM_015448.1	NP_056263.1	Q9BVM2	DPCD_HUMAN	deleted in primary ciliary dyskinesia homolog (mouse)	55					determination of left/right symmetry (GO:0007368)|epithelial cilium movement (GO:0003351)|lateral ventricle development (GO:0021670)|left/right pattern formation (GO:0060972)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)	nucleus (GO:0005634)				endometrium(1)|large_intestine(1)|lung(2)|skin(1)	5						AGTGGCGTGTGAAAAGTGCCCT	0.554																																																0																																										SO:0001589	frameshift_variant	25911				CCDS7514.1	10q24.32	2012-05-03			ENSG00000166171	ENSG00000166171			24542	protein-coding gene	gene with protein product						14630615	Standard	NM_015448		Approved	DKFZP566F084, RP11-529I10.4	uc001ktn.3	Q9BVM2	OTTHUMG00000018934	ENST00000370151.4:c.166dupA	chr10.hg19:g.103360515_103360515dupA	ENSP00000359170:p.Lys55fs		A8K289|Q6QNL3|Q8N5R1|Q9UFY6	Frame_Shift_Ins	INS	ENST00000370151.4	hg19	CCDS7514.1																																																																																				0.554	DPCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049958.2			A	103360512	-	A	103360511	7	5	799	1	0	1	1	0	0	0	0	0	4713	1277	45	0	172	0	DPCD	10	103360511	Frame_Shift_Ins	INS	-	TCGA-UZ-A9PK-01A-11D-A382-10	1755009	103360511	32174236	38	47619											
NHLRC2	374354	hgsc.bcm.edu	37	10	115636691	115636691	+	Frame_Shift_Del	DEL	T	T	-			TCGA-UZ-A9PK-01A-11D-A382-10	TCGA-UZ-A9PK-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9cb79cdb-d48d-4fd8-bdce-1f969be4a55f	36e67294-52d8-43b6-a9c0-0ed08f740cb3	g.chr10:115636691delT	ENST00000369301.3	+	3	955	c.743delT	c.(742-744)attfs	p.I248fs		NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	248										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)		CATCATAGAATTTTGGTCGTT	0.353																																																0													55	57	57					10																	115636691		2157	4275	6432	SO:0001589	frameshift_variant	374354			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.743delT	chr10.hg19:g.115636691delT	ENSP00000358307:p.Ile248fs		Q8N1H1|Q8N5A6	Frame_Shift_Del	DEL	ENST00000369301.3	hg19	CCDS7585.1																																																																																				0.353	NHLRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050446.1	NM_198514		-	115636691	T	-	115636691	7	5	799	1	0	1	0	1	0	0	0	0	10408	1493	52	0	753	0	NHLRC2	10	115636691	Frame_Shift_Del	DEL	T	TCGA-UZ-A9PK-01A-11D-A382-10	12276180	115636691	19898056	39	47620											
CPXM2	119587	hgsc.bcm.edu	37	10	125521473	125521473	+	Silent	SNP	G	G	A	rs547897756		TCGA-UZ-A9PK-01A-11D-A382-10	TCGA-UZ-A9PK-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9cb79cdb-d48d-4fd8-bdce-1f969be4a55f	36e67294-52d8-43b6-a9c0-0ed08f740cb3	g.chr10:125521473G>A	ENST00000241305.3	-	11	1846	c.1692C>T	c.(1690-1692)gaC>gaT	p.D564D	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	564					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		TCCTCCGGGCGTCTGTCATGA	0.652													G|||	1	0.000199681	0.0	0.0	5008	,	,		16148	0.001		0.0	False		,,,				2504	0.0															0													42	42	42					10																	125521473		2203	4300	6503	SO:0001819	synonymous_variant	119587			AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase"					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.1692C>T	chr10.hg19:g.125521473G>A			B4E3Q2	Silent	SNP	ENST00000241305.3	hg19	CCDS7637.1																																																																																				0.652	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148		A	125521473	G	A	125521473	2	1	799	1	0	0	0	0	0	0	0	1	3840	1136	40	1		1	CPXM2	10	125521473	Silent	SNP	G	TCGA-UZ-A9PK-01A-11D-A382-10	9884782	125521473	10013274	40	47621											
RNF17	56163	hgsc.bcm.edu	37	13	25378553	25378553	+	Missense_Mutation	SNP	T	T	A			TCGA-UZ-A9PK-01A-11D-A382-10	TCGA-UZ-A9PK-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9cb79cdb-d48d-4fd8-bdce-1f969be4a55f	36e67294-52d8-43b6-a9c0-0ed08f740cb3	g.chr13:25378553T>A	ENST00000255324.5	+	15	2129	c.2077T>A	c.(2077-2079)Ttc>Atc	p.F693I	RNF17_ENST00000381921.1_Missense_Mutation_p.F693I|RNF17_ENST00000255325.6_Intron	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	693					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)		TCCTGGAGATTTCTATCTTCA	0.279																																																0													65	64	64					13																	25378553		2198	4299	6497	SO:0001583	missense	56163			AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"RING-type (C3HC4) zinc fingers", "Tudor domain containing"	10060	protein-coding gene	gene with protein product	"spermatogenesis associated 23"	605793	"tudor domain containing 4"	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.2077T>A	chr13.hg19:g.25378553T>A	ENSP00000255324:p.Phe693Ile		Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	hg19	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	T	19.45	3.830362	0.71258	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000418120	T;T;T	0.14640	2.49;2.49;2.49	5.25	5.25	0.73442	Maternal tudor protein (1);	0.062472	0.64402	D	0.000006	T	0.36413	0.0966	M	0.74258	2.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.09487	-1.0672	10	0.49607	T	0.09	.	12.6676	0.56851	0.0:0.0:0.0:1.0	.	693;693	B7Z7S1;Q9BXT8	.;RNF17_HUMAN	I	693;693;552;17	ENSP00000255324:F693I;ENSP00000371346:F693I;ENSP00000388892:F17I	ENSP00000255324:F693I	F	+	1	0	RNF17	24276553	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	5.412000	0.66392	1.985000	0.57927	0.482000	0.46254	TTC		0.279	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		A	25378553	T	A	25378553	3	1	799	1	0	0	0	0	1	0	0	0	13467	1841	64	5	2135	5	RNF17	13	25378553	Missense_Mutation	SNP	T	TCGA-UZ-A9PK-01A-11D-A382-10		25378553	89791325	41	47622											
LMO7	4008	hgsc.bcm.edu	37	13	76427487	76427487	+	Missense_Mutation	SNP	C	C	T			TCGA-UZ-A9PK-01A-11D-A382-10	TCGA-UZ-A9PK-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9cb79cdb-d48d-4fd8-bdce-1f969be4a55f	36e67294-52d8-43b6-a9c0-0ed08f740cb3	g.chr13:76427487C>T	ENST00000321797.8	+	26	4646	c.3925C>T	c.(3925-3927)Cct>Tct	p.P1309S	LMO7_ENST00000357063.3_Missense_Mutation_p.P1594S|LMO7_ENST00000377534.3_Missense_Mutation_p.P1594S|LMO7_ENST00000341547.4_Missense_Mutation_p.P1260S|LMO7_ENST00000465261.2_Missense_Mutation_p.P1309S|LMO7_ENST00000526202.1_Missense_Mutation_p.P1186S			Q8WWI1	LMO7_HUMAN	LIM domain 7	1594					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)		AAGCCATTCCCCTTCAGCTTC	0.552																																																0													50	43	45					13																	76427487		2203	4300	6503	SO:0001583	missense	4008			AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"F-box only protein 20"	604362	"LIM domain only 7"	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.3925C>T	chr13.hg19:g.76427487C>T	ENSP00000317802:p.Pro1309Ser		E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	ENST00000321797.8	hg19		.	.	.	.	.	.	.	.	.	.	C	12.47	1.948732	0.34377	.	.	ENSG00000136153	ENST00000341547;ENST00000357063;ENST00000377534;ENST00000321797;ENST00000526202;ENST00000465261	T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91	5.54	1.78	0.24846	.	0.550372	0.18949	N	0.126737	T	0.35970	0.0950	M	0.72118	2.19	0.09310	N	1	B;B;B	0.23377	0.011;0.084;0.028	B;B;B	0.16289	0.005;0.015;0.014	T	0.35151	-0.9800	10	0.54805	T	0.06	-3.1545	3.9455	0.09346	0.2622:0.4635:0.0:0.2743	.	1186;1260;1309	E9PMS6;Q8WWI1-3;E9PLH4	.;.;.	S	1260;1594;1594;1309;1186;1309	ENSP00000342112:P1260S;ENSP00000349571:P1594S;ENSP00000366757:P1594S;ENSP00000317802:P1309S;ENSP00000431129:P1186S;ENSP00000433352:P1309S	ENSP00000317802:P1309S	P	+	1	0	LMO7	75325488	0.003000	0.15002	0.023000	0.16930	0.185000	0.23345	-0.032000	0.12266	0.011000	0.14865	0.555000	0.69702	CCT		0.552	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000045301.3	NM_005358		T	76427487	C	T	76427487	3	4	799	1	0	0	0	0	1	0	0	0	8857	623	22	2	4894	2	LMO7	13	76427487	Missense_Mutation	SNP	C	TCGA-UZ-A9PK-01A-11D-A382-10	51048934	76427487	38742391	42	47623											
SIPA1L1	26037	hgsc.bcm.edu	37	14	72196928	72196928	+	Missense_Mutation	SNP	G	G	T			TCGA-UZ-A9PK-01A-11D-A382-10	TCGA-UZ-A9PK-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9cb79cdb-d48d-4fd8-bdce-1f969be4a55f	36e67294-52d8-43b6-a9c0-0ed08f740cb3	g.chr14:72196928G>T	ENST00000555818.1	+	18	5182	c.4834G>T	c.(4834-4836)Gac>Tac	p.D1612Y	SIPA1L1_ENST00000537413.1_Missense_Mutation_p.D1066Y|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.D1591Y|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.D1591Y	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1612					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)		CCTGCCCAACGACGTCCTCTT	0.547																																																0													113	96	102					14																	72196928		2203	4300	6503	SO:0001583	missense	26037			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.4834G>T	chr14.hg19:g.72196928G>T	ENSP00000450832:p.Asp1612Tyr		J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	hg19	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.587630	0.86851	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413	T;T;T;T	0.62788	0.0;0.0;0.0;0.0	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.80193	0.4578	M	0.74467	2.265	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.994;1.0	D;D;D;P;D	0.97110	1.0;0.986;0.999;0.886;1.0	T	0.82345	-0.0503	10	0.87932	D	0	-21.812	19.0376	0.92985	0.0:0.0:1.0:0.0	.	1066;1612;1066;1591;1612	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	Y	1591;1612;1591;1066	ENSP00000370630:D1591Y;ENSP00000450832:D1612Y;ENSP00000351352:D1591Y;ENSP00000440682:D1066Y	ENSP00000351352:D1612Y	D	+	1	0	SIPA1L1	71266681	1.000000	0.71417	0.748000	0.31131	0.966000	0.64601	9.300000	0.96151	2.491000	0.84063	0.462000	0.41574	GAC		0.547	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		T	72196928	G	T	72196928	3	4	799	1	0	0	0	0	1	0	0	0	14335	1058	37	4	4900	4	SIPA1L1	14	72196928	Missense_Mutation	SNP	G	TCGA-UZ-A9PK-01A-11D-A382-10		72196928	35152612	43	47624											
C14orf102	55051	hgsc.bcm.edu	37	14	90769166	90769166	+	Frame_Shift_Del	DEL	T	T	-			TCGA-UZ-A9PK-01A-11D-A382-10	TCGA-UZ-A9PK-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9cb79cdb-d48d-4fd8-bdce-1f969be4a55f	36e67294-52d8-43b6-a9c0-0ed08f740cb3	g.chr14:90769166delT	ENST00000354366.3	-	6	1541	c.1309delA	c.(1309-1311)attfs	p.I437fs	NRDE2_ENST00000357904.3_Frame_Shift_Del_p.I206fs	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	437																	AGACTGTGAATTTTTGATATC	0.428																																																0													68	69	69					14																	90769166		2203	4300	6503	SO:0001589	frameshift_variant	55051			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.1309delA	chr14.hg19:g.90769166delT	ENSP00000346335:p.Ile437fs		B4DH71|Q4G0A7|Q9NWH6	Frame_Shift_Del	DEL	ENST00000354366.3	hg19	CCDS9890.1																																																																																				0.428	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411264.1	NM_017970		-	90769166	T	-	90769166	7	5	799	1	0	1	0	1	0	0	0	0	1737	1493	52	0	2221	0	C14orf102	14	90769166	Frame_Shift_Del	DEL	T	TCGA-UZ-A9PK-01A-11D-A382-10	18572238	90769166	16580374	44	47625											
ABCC1	4363	hgsc.bcm.edu	37	16	16215909	16215909	+	Silent	SNP	C	C	T			TCGA-UZ-A9PK-01A-11D-A382-10	TCGA-UZ-A9PK-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9cb79cdb-d48d-4fd8-bdce-1f969be4a55f	36e67294-52d8-43b6-a9c0-0ed08f740cb3	g.chr16:16215909C>T	ENST00000399410.3	+	24	3643	c.3468C>T	c.(3466-3468)aaC>aaT	p.N1156N	ABCC1_ENST00000351154.5_Silent_p.N1097N|ABCC1_ENST00000346370.5_Silent_p.N1100N|ABCC1_ENST00000345148.5_Silent_p.N1156N|ABCC1_ENST00000399408.2_Silent_p.N1166N|ABCC1_ENST00000349029.5_Silent_p.N1041N	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1156	ABC transmembrane type-1 2. {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)	CCCATTTCAACGAGACCTTGC	0.602																																																0													47	51	50					16																	16215909		2177	4291	6468	SO:0001819	synonymous_variant	4363			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.3468C>T	chr16.hg19:g.16215909C>T			A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Silent	SNP	ENST00000399410.3	hg19	CCDS42122.1																																																																																				0.602	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996		T	16215909	C	T	16215909	2	4	799	1	0	0	0	0	0	0	0	1	49	535	19	1		1	ABCC1	16	16215909	Silent	SNP	C	TCGA-UZ-A9PK-01A-11D-A382-10		16215909	74138844	45	47626											
SIAH1	6477	hgsc.bcm.edu	37	16	48395959	48395959	+	Silent	SNP	G	G	A			TCGA-UZ-A9PK-01A-11D-A382-10	TCGA-UZ-A9PK-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9cb79cdb-d48d-4fd8-bdce-1f969be4a55f	36e67294-52d8-43b6-a9c0-0ed08f740cb3	g.chr16:48395959G>A	ENST00000380006.2	-	1	1834	c.381C>T	c.(379-381)tcC>tcT	p.S127S	SIAH1_ENST00000573005.1_5'Flank|SIAH1_ENST00000356721.3_Silent_p.S158S|SIAH1_ENST00000394725.2_Silent_p.S127S			Q8IUQ4	SIAH1_HUMAN	siah E3 ubiquitin protein ligase 1	127	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)				GGCACGGACAGGAATAAGGCC	0.473																																																0													82	61	69					16																	48395959		2200	4300	6500	SO:0001819	synonymous_variant	6477			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.381C>T	chr16.hg19:g.48395959G>A			A0FKF3|O43269|Q49A58|Q92880	Silent	SNP	ENST00000380006.2	hg19	CCDS10735.1																																																																																				0.473	SIAH1-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256842.12			A	48395959	G	A	48395959	2	1	799	1	0	0	0	0	0	0	0	1	14305	987	35	2		2	SIAH1	16	48395959	Silent	SNP	G	TCGA-UZ-A9PK-01A-11D-A382-10	32180050	48395959	41958794	46	47627											
C16orf86	388284	hgsc.bcm.edu	37	16	67702481	67702482	+	Frame_Shift_Ins	INS	-	-	T	rs376801265		TCGA-UZ-A9PK-01A-11D-A382-10	TCGA-UZ-A9PK-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9cb79cdb-d48d-4fd8-bdce-1f969be4a55f	36e67294-52d8-43b6-a9c0-0ed08f740cb3	g.chr16:67702481_67702482insT	ENST00000403458.4	+	4	1087_1088	c.932_933insT	c.(931-936)ccgctcfs	p.L312fs	ENKD1_ENST00000602644.1_5'Flank|ENKD1_ENST00000243878.4_5'Flank|ENKD1_ENST00000602409.1_5'Flank	NM_001012984.2	NP_001013002.2	Q6ZW13	CP086_HUMAN	chromosome 16 open reading frame 86	312										endometrium(2)|lung(4)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CTTGTCCCCCCGCTCTCTCCTC	0.609											OREG0023886	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0																																										SO:0001589	frameshift_variant	388284				CCDS32468.2	16q22.1	2008-10-30			ENSG00000159761	ENSG00000159761			33755	protein-coding gene	gene with protein product							Standard	NM_001012984		Approved	FLJ41802	uc002ety.3	Q6ZW13	OTTHUMG00000150527	Exception_encountered	chr16.hg19:g.67702481_67702482insT	ENSP00000384117:p.Leu312fs	1101	B5MCW6	Frame_Shift_Ins	INS	ENST00000403458.4	hg19	CCDS32468.2																																																																																				0.609	C16orf86-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318767.2	NM_001012984		T	67702482	-	T	67702481	7	5	799	1	0	1	1	0	0	0	0	0	1841	652	23	0	946	0	C16orf86	16	67702481	Frame_Shift_Ins	INS	-	TCGA-UZ-A9PK-01A-11D-A382-10	19306522	67702481	22652272	47	47628											
SLC16A13	201232	hgsc.bcm.edu	37	17	6941759	6941759	+	Missense_Mutation	SNP	T	T	C			TCGA-UZ-A9PK-01A-11D-A382-10	TCGA-UZ-A9PK-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9cb79cdb-d48d-4fd8-bdce-1f969be4a55f	36e67294-52d8-43b6-a9c0-0ed08f740cb3	g.chr17:6941759T>C	ENST00000308027.6	+	3	940	c.632T>C	c.(631-633)cTc>cCc	p.L211P		NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN	solute carrier family 16, member 13	211						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						ACCTCTCTCCTCCATCATGGC	0.627																																																0													128	114	119					17																	6941759		2203	4300	6503	SO:0001583	missense	201232			BN000145	CCDS11085.1	17p13.1	2013-07-18	2013-07-18		ENSG00000174327	ENSG00000174327		"Solute carriers"	31037	protein-coding gene	gene with protein product	"monocarboxylic acid transporter 13"		"solute carrier family 16 (monocarboxylic acid transporters), member 13"				Standard	NM_201566		Approved	MCT13	uc002geh.3	Q7RTY0	OTTHUMG00000102089	ENST00000308027.6:c.632T>C	chr17.hg19:g.6941759T>C	ENSP00000309751:p.Leu211Pro		A3KMG3|A5PKU5|Q2VP92	Missense_Mutation	SNP	ENST00000308027.6	hg19	CCDS11085.1	.	.	.	.	.	.	.	.	.	.	T	19.89	3.911210	0.72983	.	.	ENSG00000174327	ENST00000308027	T	0.65364	-0.15	5.46	5.46	0.80206	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.77968	0.4210	M	0.83483	2.645	0.80722	D	1	D	0.59767	0.986	D	0.63597	0.916	T	0.81335	-0.0979	10	0.72032	D	0.01	.	11.9187	0.52779	0.0:0.0:0.0:1.0	.	211	Q7RTY0	MOT13_HUMAN	P	211	ENSP00000309751:L211P	ENSP00000309751:L211P	L	+	2	0	SLC16A13	6882483	0.987000	0.35691	0.255000	0.24374	0.994000	0.84299	4.424000	0.59868	2.057000	0.61298	0.460000	0.39030	CTC		0.627	SLC16A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219923.2			C	6941759	T	C	6941759	3	2	799	1	0	0	0	0	1	0	0	0	14412	1551	54	3	642	3	SLC16A13	17	6941759	Missense_Mutation	SNP	T	TCGA-UZ-A9PK-01A-11D-A382-10		6941759	74253451	48	47629											
MYH13	8735	hgsc.bcm.edu	37	17	10222337	10222337	+	Missense_Mutation	SNP	T	T	C			TCGA-UZ-A9PK-01A-11D-A382-10	TCGA-UZ-A9PK-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9cb79cdb-d48d-4fd8-bdce-1f969be4a55f	36e67294-52d8-43b6-a9c0-0ed08f740cb3	g.chr17:10222337T>C	ENST00000418404.3	-	26	3671	c.3508A>G	c.(3508-3510)Aag>Gag	p.K1170E	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.K1170E|RP11-401O9.3_ENST00000577743.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1170					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						GCCTCCCTCTTCTTGTTCATC	0.582																																																0													140	147	144					17																	10222337		2203	4300	6503	SO:0001583	missense	8735			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.3508A>G	chr17.hg19:g.10222337T>C	ENSP00000404570:p.Lys1170Glu		O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	hg19	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.641331	0.87859	.	.	ENSG00000006788	ENST00000252172	D	0.84873	-1.91	4.05	4.05	0.47172	Myosin tail (1);	.	.	.	.	D	0.94532	0.8239	H	0.97540	4.025	0.43517	D	0.995783	P	0.45011	0.848	P	0.62435	0.902	D	0.95834	0.8860	9	0.66056	D	0.02	.	13.4569	0.61204	0.0:0.0:0.0:1.0	.	1170	Q9UKX3	MYH13_HUMAN	E	1170	ENSP00000252172:K1170E	ENSP00000252172:K1170E	K	-	1	0	MYH13	10163062	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.971000	0.70440	1.815000	0.52974	0.482000	0.46254	AAG		0.582	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		C	10222337	T	C	10222337	3	2	799	1	0	0	0	0	1	0	0	0	10034	1792	62	3	2368	3	MYH13	17	10222337	Missense_Mutation	SNP	T	TCGA-UZ-A9PK-01A-11D-A382-10	3280578	10222337	70972873	49	47630											
DNAH9	1770	hgsc.bcm.edu	37	17	11845791	11845791	+	Missense_Mutation	SNP	C	C	T			TCGA-UZ-A9PK-01A-11D-A382-10	TCGA-UZ-A9PK-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9cb79cdb-d48d-4fd8-bdce-1f969be4a55f	36e67294-52d8-43b6-a9c0-0ed08f740cb3	g.chr17:11845791C>T	ENST00000262442.4	+	67	12900	c.12832C>T	c.(12832-12834)Ctc>Ttc	p.L4278F	DNAH9_ENST00000454412.2_Missense_Mutation_p.L4202F|DNAH9_ENST00000608377.1_Missense_Mutation_p.L590F|DNAH9_ENST00000396001.2_3'UTR	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4278					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)		GGAGCTGGAGCTCGGCTTAAA	0.567																																																0													66	60	62					17																	11845791		2203	4300	6503	SO:0001583	missense	1770			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.12832C>T	chr17.hg19:g.11845791C>T	ENSP00000262442:p.Leu4278Phe		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	hg19	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.574755	0.65878	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703;ENST00000396001	T;T;T	0.09630	2.96;2.96;2.96	4.86	3.89	0.44902	Dynein heavy chain (1);	0.142496	0.47852	D	0.000204	T	0.47395	0.1443	H	0.97587	4.035	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.66756	-0.5843	10	0.87932	D	0	.	13.5144	0.61533	0.0:0.9244:0.0:0.0756	.	4278	Q9NYC9	DYH9_HUMAN	F	4278;4202;2784;590	ENSP00000262442:L4278F;ENSP00000414874:L4202F;ENSP00000379323:L590F	ENSP00000262442:L4278F	L	+	1	0	DNAH9	11786516	0.986000	0.35501	0.977000	0.42913	0.806000	0.45545	2.527000	0.45615	1.266000	0.44231	0.462000	0.41574	CTC		0.567	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		T	11845791	C	T	11845791	3	4	799	1	0	0	0	0	1	0	0	0	4610	797	28	2	13098	2	DNAH9	17	11845791	Missense_Mutation	SNP	C	TCGA-UZ-A9PK-01A-11D-A382-10	1623454	11845791	69349419	50	47631											
C17orf71	55181	hgsc.bcm.edu	37	17	57289014	57289014	+	Silent	SNP	G	G	A			TCGA-UZ-A9PK-01A-11D-A382-10	TCGA-UZ-A9PK-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9cb79cdb-d48d-4fd8-bdce-1f969be4a55f	36e67294-52d8-43b6-a9c0-0ed08f740cb3	g.chr17:57289014G>A	ENST00000543872.2	+	2	1866	c.1602G>A	c.(1600-1602)gtG>gtA	p.V534V	SMG8_ENST00000580498.1_Intron|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000578922.1_Silent_p.V534V|SMG8_ENST00000300917.5_Silent_p.V534V			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	534					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						CTCTTCGAGTGTACAGTCAAC	0.458																																																0													91	82	85					17																	57289014		2203	4300	6503	SO:0001819	synonymous_variant	55181			AL834490	CCDS11615.1	17q23.2	2013-07-02	2013-07-02	2011-06-21					25551	protein-coding gene	gene with protein product		613175	"chromosome 17 open reading frame 71", "smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C17orf71		19417104	Standard	NM_018149		Approved	FLJ10587, FLJ23205	uc002ixi.3	Q8ND04		ENST00000543872.2:c.1602G>A	chr17.hg19:g.57289014G>A			Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Silent	SNP	ENST00000543872.2	hg19	CCDS11615.1																																																																																				0.458	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445960.2	NM_018149		A	57289014	G	A	57289014	2	1	799	1	0	0	0	0	0	0	0	1	1880	1364	48	2		2	C17orf71	17	57289014	Silent	SNP	G	TCGA-UZ-A9PK-01A-11D-A382-10	45443223	57289014	23906196	51	47632											
NAT9	26151	hgsc.bcm.edu	37	17	72767943	72767946	+	Frame_Shift_Del	DEL	ACTC	ACTC	-			TCGA-UZ-A9PK-01A-11D-A382-10	TCGA-UZ-A9PK-10A-01D-A385-10	ACTC	ACTC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9cb79cdb-d48d-4fd8-bdce-1f969be4a55f	36e67294-52d8-43b6-a9c0-0ed08f740cb3	g.chr17:72767943_72767946delACTC	ENST00000357814.3	-	7	614_617	c.541_544delGAGT	c.(541-546)gagtccfs	p.ES181fs	NAT9_ENST00000583476.1_3'UTR|NAT9_ENST00000578822.1_Frame_Shift_Del_p.ES186fs|NAT9_ENST00000582870.1_Frame_Shift_Del_p.ES185fs|NAT9_ENST00000580216.1_5'Flank|NAT9_ENST00000582524.1_Stop_Codon_Del|NAT9_ENST00000581136.1_Frame_Shift_Del_p.ES176fs|NAT9_ENST00000583757.1_Stop_Codon_Del|NAT9_ENST00000580301.1_Frame_Shift_Del_p.ES180fs|NAT9_ENST00000580632.1_Frame_Shift_Del_p.ES181fs	NM_015654.3	NP_056469.2	Q9BTE0	NAT9_HUMAN	N-acetyltransferase 9 (GCN5-related, putative)	181						protein complex (GO:0043234)	N-acetyltransferase activity (GO:0008080)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)	8						TGATGCTCGGACTCACTCACTGTC	0.559																																																0																																										SO:0001589	frameshift_variant	26151			AK123115	CCDS11706.1	17q25.2	2011-11-25	2008-09-24		ENSG00000109065	ENSG00000109065			23133	protein-coding gene	gene with protein product			"N-acetyltransferase 9"			14608357	Standard	NM_015654		Approved	DKFZP564C103	uc002jlq.3	Q9BTE0		ENST00000357814.3:c.541_544delGAGT	chr17.hg19:g.72767947_72767950delACTC	ENSP00000350467:p.Glu181fs		B2R7F0|Q9BTD0|Q9Y3T3	Frame_Shift_Del	DEL	ENST00000357814.3	hg19	CCDS11706.1																																																																																				0.559	NAT9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000443700.1	NM_015654		-	72767946	ACTC	-	72767943	7	5	799	1	0	1	0	1	0	0	0	0	10184	275	10	0	83	0	NAT9	17	72767943	Frame_Shift_Del	DEL	ACTC	TCGA-UZ-A9PK-01A-11D-A382-10	15478929	72767943	8427267	52	47633											
ALPK2	115701	hgsc.bcm.edu	37	18	56246259	56246259	+	Silent	SNP	A	A	G			TCGA-UZ-A9PK-01A-11D-A382-10	TCGA-UZ-A9PK-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9cb79cdb-d48d-4fd8-bdce-1f969be4a55f	36e67294-52d8-43b6-a9c0-0ed08f740cb3	g.chr18:56246259A>G	ENST00000361673.3	-	4	1962	c.1749T>C	c.(1747-1749)acT>acC	p.T583T	ALPK2_ENST00000587399.1_5'UTR	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	583						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						TGGTGTGAGAAGTCTCTCTTT	0.488											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													112	98	103					18																	56246259		2203	4300	6503	SO:0001819	synonymous_variant	115701			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"Immunoglobulin superfamily / I-set domain containing"	20565	protein-coding gene	gene with protein product	"heart alpha-kinase"					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.1749T>C	chr18.hg19:g.56246259A>G		1014	Q6ZUX0|Q8NAT5|Q96L95	Silent	SNP	ENST00000361673.3	hg19	CCDS11966.2																																																																																				0.488	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		G	56246259	A	G	56246259	2	3	799	1	0	0	0	0	0	0	0	1	545	59	3	3		3	ALPK2	18	56246259	Silent	SNP	A	TCGA-UZ-A9PK-01A-11D-A382-10		56246259	21830989	53	47634											
ALPK2	115701	hgsc.bcm.edu	37	18	56246453	56246453	+	Missense_Mutation	SNP	T	T	C			TCGA-UZ-A9PK-01A-11D-A382-10	TCGA-UZ-A9PK-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9cb79cdb-d48d-4fd8-bdce-1f969be4a55f	36e67294-52d8-43b6-a9c0-0ed08f740cb3	g.chr18:56246453T>C	ENST00000361673.3	-	4	1768	c.1555A>G	c.(1555-1557)Aga>Gga	p.R519G	ALPK2_ENST00000587399.1_5'Flank	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	519						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						CCCCCCACTCTCTTGTCAGCT	0.517											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													215	216	215					18																	56246453		2203	4300	6503	SO:0001583	missense	115701			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"Immunoglobulin superfamily / I-set domain containing"	20565	protein-coding gene	gene with protein product	"heart alpha-kinase"					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.1555A>G	chr18.hg19:g.56246453T>C	ENSP00000354991:p.Arg519Gly	1014	Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	hg19	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	T	15.35	2.806447	0.50421	.	.	ENSG00000198796	ENST00000361673	T	0.55052	0.54	5.14	1.07	0.20283	.	1.544590	0.04399	N	0.363947	T	0.44871	0.1314	L	0.31752	0.955	0.09310	N	1	B	0.24963	0.115	B	0.25614	0.062	T	0.40887	-0.9539	10	0.39692	T	0.17	-1.5845	12.1854	0.54236	0.0:0.0:0.4301:0.5699	.	519	Q86TB3	ALPK2_HUMAN	G	519	ENSP00000354991:R519G	ENSP00000354991:R519G	R	-	1	2	ALPK2	54397433	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.462000	0.21956	0.270000	0.21984	0.533000	0.62120	AGA		0.517	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		C	56246453	T	C	56246453	3	2	799	1	0	0	0	0	1	0	0	0	545	1559	54	3	4997	3	ALPK2	18	56246453	Missense_Mutation	SNP	T	TCGA-UZ-A9PK-01A-11D-A382-10	194	56246453	21830795	54	47635											
ODF3L2	284451	hgsc.bcm.edu	37	19	464231	464231	+	Silent	SNP	A	A	G			TCGA-UZ-A9PK-01A-11D-A382-10	TCGA-UZ-A9PK-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9cb79cdb-d48d-4fd8-bdce-1f969be4a55f	36e67294-52d8-43b6-a9c0-0ed08f740cb3	g.chr19:464231A>G	ENST00000315489.4	-	4	718	c.483T>C	c.(481-483)ccT>ccC	p.P161P	ODF3L2_ENST00000382696.3_Silent_p.P125P	NM_182577.2	NP_872383.1	Q3SX64	OD3L2_HUMAN	outer dense fiber of sperm tails 3-like 2	161	Pro-rich.					cytoplasmic microtubule (GO:0005881)				large_intestine(1)|lung(2)	3						TGTAGGCATTAGGGGCAGGGG	0.711																																																0													6	7	7					19																	464231		1948	3822	5770	SO:0001819	synonymous_variant	284451			AK097378	CCDS12027.1	19p13.3	2010-04-23	2008-07-04	2008-07-04		ENSG00000181781			26841	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 19"	C19orf19		14702039	Standard	NM_182577		Approved	FLJ40059	uc002lor.3	Q3SX64		ENST00000315489.4:c.483T>C	chr19.hg19:g.464231A>G			Q3SX65|Q8N1L2	Silent	SNP	ENST00000315489.4	hg19	CCDS12027.1																																																																																				0.711	ODF3L2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451849.2	NM_182577		G	464231	A	G	464231	2	3	799	1	0	0	0	0	0	0	0	1	10834	407	15	3		3	ODF3L2	19	464231	Silent	SNP	A	TCGA-UZ-A9PK-01A-11D-A382-10		464231	58664752	55	47636											
UBXN6	80700	hgsc.bcm.edu	37	19	4446696	4446696	+	Missense_Mutation	SNP	C	C	T	rs563472721		TCGA-UZ-A9PK-01A-11D-A382-10	TCGA-UZ-A9PK-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9cb79cdb-d48d-4fd8-bdce-1f969be4a55f	36e67294-52d8-43b6-a9c0-0ed08f740cb3	g.chr19:4446696C>T	ENST00000301281.6	-	8	845	c.721G>A	c.(721-723)Gtg>Atg	p.V241M	CTB-50L17.7_ENST00000588798.1_RNA|MIR4746_ENST00000579802.1_RNA|UBXN6_ENST00000394765.3_Missense_Mutation_p.V188M	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	241	PUB.					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						TCGCTCAGCACGTAGAACTCC	0.677																																																0													41	39	39					19																	4446696		2203	4299	6502	SO:0001583	missense	80700			AF272893	CCDS12129.1, CCDS54201.1	19p13	2008-07-25	2008-07-25	2008-07-25		ENSG00000167671		"UBX domain containing"	14928	protein-coding gene	gene with protein product		611946	"UBX domain-containing 1", "UBX domain containing 1"	UBXD1		11342112	Standard	NM_025241		Approved	UBXDC2	uc002man.2	Q9BZV1		ENST00000301281.6:c.721G>A	chr19.hg19:g.4446696C>T	ENSP00000301281:p.Val241Met		D6W626|Q96AH1|Q96IK9|Q9BZV0	Missense_Mutation	SNP	ENST00000301281.6	hg19	CCDS12129.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.123000	0.77436	.	.	ENSG00000167671	ENST00000301281;ENST00000394765	T;T	0.39056	1.54;1.1	4.82	4.82	0.62117	PUG domain (1);PUB domain (1);	0.000000	0.85682	D	0.000000	T	0.67221	0.2870	M	0.81802	2.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	T	0.72994	-0.4122	10	0.72032	D	0.01	-49.8103	16.8633	0.86023	0.0:1.0:0.0:0.0	.	188;241	Q9BZV1-2;Q9BZV1	.;UBXN6_HUMAN	M	241;188	ENSP00000301281:V241M;ENSP00000378246:V188M	ENSP00000301281:V241M	V	-	1	0	UBXN6	4397696	1.000000	0.71417	0.994000	0.49952	0.566000	0.35808	5.377000	0.66184	2.227000	0.72691	0.491000	0.48974	GTG		0.677	UBXN6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458447.3	NM_025241		T	4446696	C	T	4446696	3	4	799	1	0	0	0	0	1	0	0	0	16922	536	19	1	620	1	UBXN6	19	4446696	Missense_Mutation	SNP	C	TCGA-UZ-A9PK-01A-11D-A382-10	3982465	4446696	54682287	56	47637											
SMARCA4	6597	hgsc.bcm.edu	37	19	11113759	11113759	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UZ-A9PK-01A-11D-A382-10	TCGA-UZ-A9PK-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9cb79cdb-d48d-4fd8-bdce-1f969be4a55f	36e67294-52d8-43b6-a9c0-0ed08f740cb3	g.chr19:11113759G>T	ENST00000429416.3	+	13	2148	c.1867G>T	c.(1867-1869)Gag>Tag	p.E623*	SMARCA4_ENST00000590574.1_Nonsense_Mutation_p.E623*|SMARCA4_ENST00000413806.3_Nonsense_Mutation_p.E623*|SMARCA4_ENST00000589677.1_Nonsense_Mutation_p.E623*|SMARCA4_ENST00000541122.2_Nonsense_Mutation_p.E623*|SMARCA4_ENST00000344626.4_Nonsense_Mutation_p.E623*|SMARCA4_ENST00000444061.3_Nonsense_Mutation_p.E623*|SMARCA4_ENST00000358026.2_Nonsense_Mutation_p.E623*|SMARCA4_ENST00000450717.3_Nonsense_Mutation_p.E623*	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	623					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)				GATCCACGTGGAGAGTGGGAA	0.602			"F, N, Mis"		NSCLC																																		Rec	yes		19	19p13.2	6597	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"		E	1	Unknown(1)	lung(1)											85	84	84					19																	11113759		2203	4300	6503	SO:0001587	stop_gained	6597			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4"	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.1867G>T	chr19.hg19:g.11113759G>T	ENSP00000395654:p.Glu623*		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Nonsense_Mutation	SNP	ENST00000429416.3	hg19	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	G	39	7.430867	0.98279	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	.	.	.	4.57	4.57	0.56435	.	0.059842	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-47.5138	16.6596	0.85238	0.0:0.0:1.0:0.0	.	.	.	.	X	623;623;687;623;623;623;623;623	.	ENSP00000343896:E623X	E	+	1	0	SMARCA4	10974759	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	9.601000	0.98297	2.526000	0.85167	0.563000	0.77884	GAG		0.602	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		T	11113759	G	T	11113759	4	4	799	1	0	0	0	0	0	1	0	0	14776	1175	41	4	1909	4	SMARCA4	19	11113759	Nonsense_Mutation	SNP	G	TCGA-UZ-A9PK-01A-11D-A382-10	6667063	11113759	48015224	57	47638											
LDLR	3949	hgsc.bcm.edu	37	19	11217362	11217363	+	Splice_Site	DEL	TG	TG	-			TCGA-UZ-A9PK-01A-11D-A382-10	TCGA-UZ-A9PK-10A-01D-A385-10	TG	TG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9cb79cdb-d48d-4fd8-bdce-1f969be4a55f	36e67294-52d8-43b6-a9c0-0ed08f740cb3	g.chr19:11217362_11217363delTG	ENST00000558518.1	+	5	1003_1004	c.816_817delTG	c.(814-819)aatgtg>aatg	p.V273fs	LDLR_ENST00000558013.1_Splice_Site_p.V273fs|LDLR_ENST00000455727.2_Intron|LDLR_ENST00000545707.1_Splice_Site_p.V146fs|LDLR_ENST00000535915.1_Splice_Site_p.V232fs|LDLR_ENST00000557933.1_Splice_Site_p.V273fs	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	273					cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|intestinal cholesterol absorption (GO:0030299)|lipid metabolic process (GO:0006629)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|phototransduction, visible light (GO:0007603)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol homeostasis (GO:2000188)|regulation of phosphatidylcholine catabolic process (GO:0010899)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|very-low-density lipoprotein particle receptor activity (GO:0030229)	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Porfimer(DB00707)	GCTGCGTTAATGGTGAGCGCTG	0.54																																					GBM(18;201 575 7820 21545)											1	Unknown(1)	lung(1)																																								SO:0001630	splice_region_variant	3949			AY114155	CCDS12254.1, CCDS56083.1, CCDS56084.1, CCDS56085.1, CCDS58651.1	19p13.2	2014-09-17	2008-08-01		ENSG00000130164	ENSG00000130164		"Low density lipoprotein receptors"	6547	protein-coding gene	gene with protein product	"familial hypercholesterolemia"	606945					Standard	NM_000527		Approved	LDLCQ2	uc002mqk.4	P01130		ENST00000558518.1:c.817+1TG>-	chr19.hg19:g.11217362_11217363delTG			B4DII3|B4DJZ8|B4DR00|B4DTQ3|C0JYY8|H0YLU8|H0YNT7|Q53ZD9|Q59FQ1|Q9UDH7	Frame_Shift_Del	DEL	ENST00000558518.1	hg19	CCDS12254.1																																																																																				0.54	LDLR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415973.2		Frame_Shift_Del	-	11217363	TG	-	11217362	8	5	799	1	0	1	0	1	0	0	1	0	8706	1478	51	0	834	0	LDLR	19	11217362	Splice_Site	DEL	TG	TCGA-UZ-A9PK-01A-11D-A382-10	103603	11217362	47911621	58	47639											
ELAVL3	1995	hgsc.bcm.edu	37	19	11577519	11577519	+	Missense_Mutation	SNP	A	A	G			TCGA-UZ-A9PK-01A-11D-A382-10	TCGA-UZ-A9PK-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9cb79cdb-d48d-4fd8-bdce-1f969be4a55f	36e67294-52d8-43b6-a9c0-0ed08f740cb3	g.chr19:11577519A>G	ENST00000359227.3	-	2	557	c.133T>C	c.(133-135)Tac>Cac	p.Y45H	CTC-398G3.6_ENST00000585656.1_3'UTR|ELAVL3_ENST00000438662.2_Missense_Mutation_p.Y45H|RN7SL669P_ENST00000581926.1_RNA	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN	ELAV like neuron-specific RNA binding protein 3	45	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)		AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						TGGGGCAGGTAGTTGACGATG	0.602																																																0													149	127	134					19																	11577519		2203	4300	6503	SO:0001583	missense	1995				CCDS32912.1, CCDS45978.1	19p13.2	2013-10-03	2013-10-03			ENSG00000196361		"RNA binding motif (RRM) containing"	3314	protein-coding gene	gene with protein product	"Hu antigen C", "paraneoplastic limbic encephalitis antigen 21", "paraneoplastic cerebellar degeneration-associated antigen", "ELAV-like protein 3"	603458	"ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C)"			9799595	Standard	NM_001420		Approved	HUC, PLE21, DKFZp547J036, HUCL, MGC20653	uc002mry.1	Q14576		ENST00000359227.3:c.133T>C	chr19.hg19:g.11577519A>G	ENSP00000352162:p.Tyr45His		Q16135|Q96CL8|Q96QS9	Missense_Mutation	SNP	ENST00000359227.3	hg19	CCDS32912.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.214625	0.79352	.	.	ENSG00000196361	ENST00000359227;ENST00000438662	T;T	0.73897	-0.79;3.4	4.83	3.82	0.43975	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.72969	0.3527	N	0.13352	0.335	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.76071	0.987;0.986	T	0.75033	-0.3460	10	0.87932	D	0	.	9.5216	0.39138	0.9149:0.0:0.085:0.0	.	45;45	Q14576;Q14576-2	ELAV3_HUMAN;.	H	45	ENSP00000352162:Y45H;ENSP00000390878:Y45H	ENSP00000352162:Y45H	Y	-	1	0	ELAVL3	11438519	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.943000	0.92975	0.887000	0.36136	0.523000	0.50628	TAC		0.602	ELAVL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458827.2	NM_001420		G	11577519	A	G	11577519	3	3	799	1	0	0	0	0	1	0	0	0	5053	420	15	3	994	3	ELAVL3	19	11577519	Missense_Mutation	SNP	A	TCGA-UZ-A9PK-01A-11D-A382-10	360157	11577519	47551464	59	47640											
ZBTB32	27033	hgsc.bcm.edu	37	19	36205913	36205913	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9PK-01A-11D-A382-10	TCGA-UZ-A9PK-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9cb79cdb-d48d-4fd8-bdce-1f969be4a55f	36e67294-52d8-43b6-a9c0-0ed08f740cb3	g.chr19:36205913G>A	ENST00000392197.2	+	3	703	c.385G>A	c.(385-387)Gag>Aag	p.E129K	ZBTB32_ENST00000262630.3_Missense_Mutation_p.E129K			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	129					DNA repair (GO:0006281)|hemopoiesis (GO:0030097)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cytokine production (GO:0001817)|T cell proliferation (GO:0042098)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	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)			GAAACATCAGGAGGAGCCAGA	0.572																																																0													45	48	47					19																	36205913		2203	4300	6503	SO:0001583	missense	27033			AF130255	CCDS12471.1	19q13.1	2013-01-08			ENSG00000011590	ENSG00000011590		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	16763	protein-coding gene	gene with protein product	"repressor of GATA"	605859				10572087	Standard	XM_005258739		Approved	TZFP, FAZF, FAXF, Rog, ZNF538	uc002oay.3	Q9Y2Y4	OTTHUMG00000048118	ENST00000392197.2:c.385G>A	chr19.hg19:g.36205913G>A	ENSP00000376035:p.Glu129Lys		Q8WVP2	Missense_Mutation	SNP	ENST00000392197.2	hg19	CCDS12471.1	.	.	.	.	.	.	.	.	.	.	G	10.90	1.482481	0.26598	.	.	ENSG00000011590	ENST00000262630;ENST00000392197	T;T	0.09073	3.02;3.02	4.6	3.56	0.40772	.	0.471504	0.18012	N	0.154527	T	0.05593	0.0147	L	0.27053	0.805	0.28847	N	0.896287	B	0.27997	0.197	B	0.19148	0.024	T	0.28650	-1.0037	10	0.27785	T	0.31	-7.7093	8.4166	0.32674	0.1093:0.0:0.8907:0.0	.	129	Q9Y2Y4	ZBT32_HUMAN	K	129	ENSP00000262630:E129K;ENSP00000376035:E129K	ENSP00000262630:E129K	E	+	1	0	ZBTB32	40897753	0.482000	0.25948	0.266000	0.24541	0.184000	0.23303	0.556000	0.23438	0.916000	0.36871	0.655000	0.94253	GAG		0.572	ZBTB32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109491.3	NM_014383		A	36205913	G	A	36205913	3	1	799	1	0	0	0	0	1	0	0	0	17540	1175	41	2	387	2	ZBTB32	19	36205913	Missense_Mutation	SNP	G	TCGA-UZ-A9PK-01A-11D-A382-10	24628394	36205913	22923070	60	47641											
PPP1R15A	23645	hgsc.bcm.edu	37	19	49376934	49376934	+	Silent	SNP	A	A	T			TCGA-UZ-A9PK-01A-11D-A382-10	TCGA-UZ-A9PK-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9cb79cdb-d48d-4fd8-bdce-1f969be4a55f	36e67294-52d8-43b6-a9c0-0ed08f740cb3	g.chr19:49376934A>T	ENST00000200453.5	+	2	713	c.444A>T	c.(442-444)atA>atT	p.I148I		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	148					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)		GCCTTCTGATAAGGACACTGC	0.532																																																0													146	135	139					19																	49376934		2203	4300	6503	SO:0001819	synonymous_variant	23645			U83981	CCDS12738.1	19q13.2	2012-04-17	2011-10-04		ENSG00000087074	ENSG00000087074		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14375	protein-coding gene	gene with protein product	"growth arrest and DNA-damage-inducible 34"	611048	"protein phosphatase 1, regulatory (inhibitor) subunit 15A"			9153226, 9413226	Standard	NM_014330		Approved	GADD34	uc002pky.4	O75807		ENST00000200453.5:c.444A>T	chr19.hg19:g.49376934A>T			B4DKQ3|Q6IA96|Q9NVU6	Silent	SNP	ENST00000200453.5	hg19	CCDS12738.1																																																																																				0.532	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466226.1	NM_014330		T	49376934	A	T	49376934	2	4	799	1	0	0	0	0	0	0	0	1	12368	352	13	5		5	PPP1R15A	19	49376934	Silent	SNP	A	TCGA-UZ-A9PK-01A-11D-A382-10	13171021	49376934	9752049	61	47642											
POFUT1	23509	hgsc.bcm.edu	37	20	30803187	30803187	+	Missense_Mutation	SNP	A	A	G			TCGA-UZ-A9PK-01A-11D-A382-10	TCGA-UZ-A9PK-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9cb79cdb-d48d-4fd8-bdce-1f969be4a55f	36e67294-52d8-43b6-a9c0-0ed08f740cb3	g.chr20:30803187A>G	ENST00000375749.3	+	3	424	c.362A>G	c.(361-363)aAg>aGg	p.K121R	POFUT1_ENST00000375730.3_Missense_Mutation_p.K121R|POFUT1_ENST00000486717.1_3'UTR|POFUT1_ENST00000539210.1_Intron	NM_015352.1	NP_056167.1	Q9H488	OFUT1_HUMAN	protein O-fucosyltransferase 1	121					angiogenesis (GO:0001525)|embryo development (GO:0009790)|fucose metabolic process (GO:0006004)|heart development (GO:0007507)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|O-glycan processing (GO:0016266)|protein O-linked fucosylation (GO:0036066)|protein O-linked glycosylation (GO:0006493)|regulation of transcription, DNA-templated (GO:0006355)|somitogenesis (GO:0001756)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	fucosyltransferase activity (GO:0008417)|peptide-O-fucosyltransferase activity (GO:0046922)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	6			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CCCCCTGAGAAGCGGGTGGCA	0.597																																																0													78	84	82					20																	30803187		2203	4300	6503	SO:0001583	missense	23509			AF375884	CCDS13198.1, CCDS13199.1	20q11	2013-03-06			ENSG00000101346	ENSG00000101346	2.4.1.221	"Fucosyltransferases"	14988	protein-coding gene	gene with protein product	"peptide-O-fucosyltransferase", "GDP-fucose protein O-fucosyltransferase 1"	607491				9023546, 9525914	Standard	NM_015352		Approved	O-FUT, O-Fuc-T, KIAA0180, FUT12	uc002wxp.3	Q9H488	OTTHUMG00000133268	ENST00000375749.3:c.362A>G	chr20.hg19:g.30803187A>G	ENSP00000364902:p.Lys121Arg		A8K4R8|E1P5M4|Q14685|Q5W185|Q9BW76	Missense_Mutation	SNP	ENST00000375749.3	hg19	CCDS13198.1	.	.	.	.	.	.	.	.	.	.	A	13.72	2.322856	0.41096	.	.	ENSG00000101346	ENST00000375749;ENST00000375730	T;T	0.30448	1.53;1.53	5.64	-2.63	0.06133	.	0.492888	0.25987	N	0.027029	T	0.20414	0.0491	L	0.37697	1.125	0.80722	D	1	B;B	0.11235	0.001;0.004	B;B	0.13407	0.009;0.004	T	0.15752	-1.0426	10	0.17832	T	0.49	-15.5232	13.9147	0.63890	0.4791:0.0:0.5209:0.0	.	121;121	Q9H488;Q9H488-2	OFUT1_HUMAN;.	R	121	ENSP00000364902:K121R;ENSP00000364882:K121R	ENSP00000364882:K121R	K	+	2	0	POFUT1	30266848	0.995000	0.38212	0.916000	0.36221	0.996000	0.88848	0.605000	0.24179	-0.744000	0.04778	0.533000	0.62120	AAG		0.597	POFUT1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078613.1	NM_015352		G	30803187	A	G	30803187	3	3	799	1	0	0	0	0	1	0	0	0	12185	72	3	3	372	3	POFUT1	20	30803187	Missense_Mutation	SNP	A	TCGA-UZ-A9PK-01A-11D-A382-10		30803187	32222333	62	47643											
NEFH	4744	hgsc.bcm.edu	37	22	29885848	29885848	+	Missense_Mutation	SNP	T	T	A	rs464517		TCGA-UZ-A9PK-01A-11D-A382-10	TCGA-UZ-A9PK-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9cb79cdb-d48d-4fd8-bdce-1f969be4a55f	36e67294-52d8-43b6-a9c0-0ed08f740cb3	g.chr22:29885848T>A	ENST00000310624.6	+	4	2252	c.2219T>A	c.(2218-2220)gTg>gAg	p.V740E		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	746	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AAGTCCCCAGTGAAGGAAGAA	0.547																																																0													101	102	102					22																	29885848		2203	4300	6503	SO:0001583	missense	4744				CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"Intermediate filaments type IV"	7737	protein-coding gene	gene with protein product		162230	"neurofilament, heavy polypeptide 200kDa"				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.2219T>A	chr22.hg19:g.29885848T>A	ENSP00000311997:p.Val740Glu		B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Missense_Mutation	SNP	ENST00000310624.6	hg19	CCDS13858.1	.	.	.	.	.	.	.	.	.	.	T	0.201	-1.044796	0.01997	.	.	ENSG00000100285	ENST00000328842;ENST00000310624	D	0.82344	-1.6	4.0	2.89	0.33648	.	0.451396	0.18731	N	0.132724	T	0.72220	0.3433	L	0.51422	1.61	0.26362	N	0.977028	B	0.17667	0.023	B	0.12156	0.007	T	0.53683	-0.8404	10	0.13470	T	0.59	.	4.1768	0.10356	0.496:0.0989:0.0:0.4051	rs464517;rs464517	746	P12036	NFH_HUMAN	E	740	ENSP00000311997:V740E	ENSP00000311997:V740E	V	+	2	0	NEFH	28215848	0.000000	0.05858	0.465000	0.27155	0.670000	0.39368	-2.059000	0.01393	0.375000	0.24679	0.418000	0.28097	GTG		0.547	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		A	29885848	T	A	29885848	3	1	799	1	0	0	0	0	1	0	0	0	10316	1696	59	5	2233	5	NEFH	22	29885848	Missense_Mutation	SNP	T	TCGA-UZ-A9PK-01A-11D-A382-10		29885848	21418718	63	47644	510	2									
NEFH	4744	hgsc.bcm.edu	37	22	29885853	29885858	+	In_Frame_Del	DEL	GAAGAA	GAAGAA	-	rs59890097|rs570663492|rs377642315|rs532587474	byFrequency	TCGA-UZ-A9PK-01A-11D-A382-10	TCGA-UZ-A9PK-10A-01D-A385-10	GAAGAA	GAAGAA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9cb79cdb-d48d-4fd8-bdce-1f969be4a55f	36e67294-52d8-43b6-a9c0-0ed08f740cb3	g.chr22:29885853_29885858delGAAGAA	ENST00000310624.6	+	4	2257_2262	c.2224_2229delGAAGAA	c.(2224-2229)gaagaadel	p.EE742del		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	748	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						CCCAGTGAAGGAAGAAGCTAAGTCCC	0.553																																																0																																										SO:0001651	inframe_deletion	4744				CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"Intermediate filaments type IV"	7737	protein-coding gene	gene with protein product		162230	"neurofilament, heavy polypeptide 200kDa"				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.2224_2229delGAAGAA	chr22.hg19:g.29885853_29885858delGAAGAA	ENSP00000311997:p.Glu742_Glu743del		B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	In_Frame_Del	DEL	ENST00000310624.6	hg19	CCDS13858.1																																																																																				0.553	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		-	29885858	GAAGAA	-	29885853	7	5	799	1	0	1	0	1	0	0	0	0	10316	1175	41	0	2238	0	NEFH	22	29885853	In_Frame_Del	DEL	GAAGAA	TCGA-UZ-A9PK-01A-11D-A382-10	5	29885853	21418713	64	47645	510	2									
EP300	2033	hgsc.bcm.edu	37	22	41542756	41542756	+	Silent	SNP	T	T	C			TCGA-UZ-A9PK-01A-11D-A382-10	TCGA-UZ-A9PK-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9cb79cdb-d48d-4fd8-bdce-1f969be4a55f	36e67294-52d8-43b6-a9c0-0ed08f740cb3	g.chr22:41542756T>C	ENST00000263253.7	+	11	3286	c.2067T>C	c.(2065-2067)ccT>ccC	p.P689P		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	689					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						GCCCTCTACCTGACCCAAGTA	0.373			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																														Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"L, E"	0													93	91	92					22																	41542756		2203	4300	6503	SO:0001819	synonymous_variant	2033	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"Chromatin-modifying enzymes / K-acetyltransferases"	3373	protein-coding gene	gene with protein product	"histone acetyltransferase p300"	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.2067T>C	chr22.hg19:g.41542756T>C			B1AKC2	Silent	SNP	ENST00000263253.7	hg19	CCDS14010.1																																																																																				0.373	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		C	41542756	T	C	41542756	2	2	799	1	0	0	0	0	0	0	0	1	5150	1567	55	3		3	EP300	22	41542756	Silent	SNP	T	TCGA-UZ-A9PK-01A-11D-A382-10	11656903	41542756	9761810	65	47646											
USP11	8237	hgsc.bcm.edu	37	X	47103934	47103934	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9PK-01A-11D-A382-10	TCGA-UZ-A9PK-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9cb79cdb-d48d-4fd8-bdce-1f969be4a55f	36e67294-52d8-43b6-a9c0-0ed08f740cb3	g.chrX:47103934G>A	ENST00000218348.3	+	14	1957	c.1957G>A	c.(1957-1959)Gat>Aat	p.D653N	USP11_ENST00000377107.2_Missense_Mutation_p.D610N	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	653	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						TGATGAGGACGATGGGGATGA	0.572																																																0													77	61	67					X																	47103934		2203	4300	6503	SO:0001583	missense	8237			U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226		"Ubiquitin-specific peptidases"	12609	protein-coding gene	gene with protein product		300050	"ubiquitin specific protease 11"			12838346	Standard	XM_005272674		Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000218348.3:c.1957G>A	chrX.hg19:g.47103934G>A	ENSP00000218348:p.Asp653Asn		B2RTX1|Q8IUG6|Q9BWE1	Missense_Mutation	SNP	ENST00000218348.3	hg19	CCDS14277.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.350316	0.41599	.	.	ENSG00000102226	ENST00000377107;ENST00000218348	T;T	0.20738	2.06;2.05	5.29	5.29	0.74685	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.135164	0.33631	N	0.004707	T	0.15132	0.0365	N	0.16066	0.365	0.37750	D	0.925941	B;P	0.52463	0.041;0.953	B;P	0.46237	0.026;0.508	T	0.13791	-1.0496	10	0.16420	T	0.52	-7.848	13.3561	0.60629	0.0:0.0:1.0:0.0	.	380;653	B3KP28;P51784	.;UBP11_HUMAN	N	610;653	ENSP00000366311:D610N;ENSP00000218348:D653N	ENSP00000218348:D653N	D	+	1	0	USP11	46988878	0.983000	0.35010	0.533000	0.28001	0.881000	0.50899	3.296000	0.51802	2.217000	0.71921	0.600000	0.82982	GAT		0.572	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_004651		A	47103934	G	A	47103934	3	1	799	1	0	0	0	0	1	0	0	0	17047	1058	37	1	2011	1	USP11	23	47103934	Missense_Mutation	SNP	G	TCGA-UZ-A9PK-01A-11D-A382-10		47103934	108166626	66	47647											
SPOCD1	90853	hgsc.bcm.edu	37	1	32265460	32265460	+	Missense_Mutation	SNP	C	C	T			TCGA-UZ-A9PL-01A-11D-A382-10	TCGA-UZ-A9PL-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fd5fd508-d8c8-4630-9580-0c780b3202e1	6b5fdcae-db39-4f26-a632-d6da690b51ab	g.chr1:32265460C>T	ENST00000360482.2	-	6	1862	c.1733G>A	c.(1732-1734)gGc>gAc	p.G578D	SPOCD1_ENST00000373648.2_Missense_Mutation_p.G519D|SPOCD1_ENST00000257100.3_Missense_Mutation_p.G71D|SPOCD1_ENST00000533231.1_Missense_Mutation_p.G578D	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	578					negative regulation of phosphatase activity (GO:0010923)|transcription, DNA-templated (GO:0006351)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CTCCATTGGGCCACTCTGTAG	0.622																																																0													56	56	56					1																	32265460		2203	4300	6503	SO:0001583	missense	90853			AK058077	CCDS347.1, CCDS60066.1, CCDS72748.1	1p35.1	2014-06-13			ENSG00000134668	ENSG00000134668			26338	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 146"					12477932	Standard	NM_144569		Approved	FLJ25348, PPP1R146	uc001bts.1	Q6ZMY3	OTTHUMG00000003879	ENST00000360482.2:c.1733G>A	chr1.hg19:g.32265460C>T	ENSP00000353670:p.Gly578Asp		Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	Missense_Mutation	SNP	ENST00000360482.2	hg19	CCDS347.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.041247	0.55003	.	.	ENSG00000134668	ENST00000257100;ENST00000360482;ENST00000373648;ENST00000533231;ENST00000528791	T;T;T;T	0.51071	0.99;1.99;0.72;1.97	3.95	0.984	0.19773	.	.	.	.	.	T	0.24509	0.0594	N	0.14661	0.345	0.09310	N	1	B;B	0.23891	0.093;0.056	B;B	0.24541	0.054;0.024	T	0.19679	-1.0298	9	0.22706	T	0.39	-0.0365	2.9274	0.05788	0.218:0.5427:0.0:0.2393	.	578;578	Q6ZMY3-2;Q6ZMY3	.;SPOC1_HUMAN	D	71;578;519;578;71	ENSP00000257100:G71D;ENSP00000353670:G578D;ENSP00000362752:G519D;ENSP00000435851:G578D	ENSP00000257100:G71D	G	-	2	0	SPOCD1	32038047	0.000000	0.05858	0.000000	0.03702	0.335000	0.28730	0.008000	0.13197	0.218000	0.20820	0.551000	0.68910	GGC		0.622	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000381912.1	NM_144569		T	32265460	C	T	32265460	3	4	800	1	0	0	0	0	1	0	0	0	15083	739	26	2	1961	2	SPOCD1	1	32265460	Missense_Mutation	SNP	C	TCGA-UZ-A9PL-01A-11D-A382-10		32265460	216985161	1	47648											
SFPQ	6421	hgsc.bcm.edu	37	1	35656516	35656516	+	Silent	SNP	A	A	G			TCGA-UZ-A9PL-01A-11D-A382-10	TCGA-UZ-A9PL-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fd5fd508-d8c8-4630-9580-0c780b3202e1	6b5fdcae-db39-4f26-a632-d6da690b51ab	g.chr1:35656516A>G	ENST00000357214.5	-	3	1196	c.1098T>C	c.(1096-1098)ttT>ttC	p.F366F		NM_005066.2	NP_005057.1	P23246	SFPQ_HUMAN	splicing factor proline/glutamine-rich	366	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H3 deacetylation (GO:0070932)|mRNA processing (GO:0006397)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|histone deacetylase binding (GO:0042826)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)		SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				CATGTGTGGCAAAGCGAACTC	0.453			T	TFE3	papillary renal cell																																		Dom	yes		1	1p34.3	6421	splicing factor proline/glutamine rich(polypyrimidine tract binding protein associated)		E	0													76	74	75					1																	35656516		2203	4300	6503	SO:0001819	synonymous_variant	6421			X70944	CCDS388.1	1p34.3	2014-06-13	2010-05-04		ENSG00000116560	ENSG00000116560		"RNA binding motif (RRM) containing"	10774	protein-coding gene	gene with protein product	"polypyrimidine tract binding protein associated", "protein phosphatase 1, regulatory subunit 140"	605199	"splicing factor proline/glutamine rich (polypyrimidine tract-binding protein-associated)"			8449401	Standard	NM_005066		Approved	PSF, PPP1R140	uc001bys.3	P23246	OTTHUMG00000004157	ENST00000357214.5:c.1098T>C	chr1.hg19:g.35656516A>G			P30808|Q5SZ71	Silent	SNP	ENST00000357214.5	hg19	CCDS388.1																																																																																				0.453	SFPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011984.4	NM_005066		G	35656516	A	G	35656516	2	3	800	1	0	0	0	0	0	0	0	1	14166	127	5	3		3	SFPQ	1	35656516	Silent	SNP	A	TCGA-UZ-A9PL-01A-11D-A382-10	3391056	35656516	213594105	2	47649											
LRRC8D	55144	hgsc.bcm.edu	37	1	90400895	90400895	+	Missense_Mutation	SNP	T	T	G			TCGA-UZ-A9PL-01A-11D-A382-10	TCGA-UZ-A9PL-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fd5fd508-d8c8-4630-9580-0c780b3202e1	6b5fdcae-db39-4f26-a632-d6da690b51ab	g.chr1:90400895T>G	ENST00000337338.5	+	3	2675	c.2268T>G	c.(2266-2268)caT>caG	p.H756Q	LRRC8D_ENST00000394593.3_Missense_Mutation_p.H756Q	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	756					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)		ACCTGCAGCATTTGCATATCA	0.383																																																0													97	97	97					1																	90400895		2203	4300	6503	SO:0001583	missense	55144			AK001332	CCDS726.1	1p22.2	2008-02-05	2005-06-29	2005-06-29	ENSG00000171492	ENSG00000171492			16992	protein-coding gene	gene with protein product		612890	"leucine rich repeat containing 5"	LRRC5			Standard	NM_018103		Approved	FLJ10470	uc001dnn.3	Q7L1W4	OTTHUMG00000010583	ENST00000337338.5:c.2268T>G	chr1.hg19:g.90400895T>G	ENSP00000338887:p.His756Gln		D3DT29|Q6UWB2|Q9NVW3	Missense_Mutation	SNP	ENST00000337338.5	hg19	CCDS726.1	.	.	.	.	.	.	.	.	.	.	T	9.831	1.188401	0.21954	.	.	ENSG00000171492	ENST00000337338;ENST00000394593	T;T	0.57273	0.41;0.41	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.24812	0.0602	L	0.31371	0.925	0.52501	D	0.999957	B	0.20164	0.042	B	0.27262	0.078	T	0.13575	-1.0504	9	.	.	.	.	10.8883	0.46981	0.0:0.0695:0.0:0.9305	.	756	Q7L1W4	LRC8D_HUMAN	Q	756	ENSP00000338887:H756Q;ENSP00000378093:H756Q	.	H	+	3	2	LRRC8D	90173483	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.826000	0.39092	2.326000	0.78906	0.533000	0.62120	CAT		0.383	LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029203.2	NM_018103		G	90400895	T	G	90400895	3	3	800	1	0	0	0	0	1	0	0	0	9026	1490	52	5	2270	5	LRRC8D	1	90400895	Missense_Mutation	SNP	T	TCGA-UZ-A9PL-01A-11D-A382-10	54744379	90400895	158849726	3	47650											
INSRR	3645	hgsc.bcm.edu	37	1	156811515	156811515	+	Missense_Mutation	SNP	G	G	A	rs201172210		TCGA-UZ-A9PL-01A-11D-A382-10	TCGA-UZ-A9PL-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fd5fd508-d8c8-4630-9580-0c780b3202e1	6b5fdcae-db39-4f26-a632-d6da690b51ab	g.chr1:156811515G>A	ENST00000368195.3	-	20	3865	c.3469C>T	c.(3469-3471)Cgc>Tgc	p.R1157C	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	1157	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)					GCCATCCAGCGCACGGGCAGC	0.627																																																0								G	,CYS/ARG	0,4406		0,0,2203	79	75	77		,3469	5.1	1	1		77	3,8597	3.0+/-9.4	0,3,4297	yes	intron,missense	INSRR,NTRK1	NM_001007792.1,NM_014215.2	,180	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	,probably-damaging	,1157/1298	156811515	3,13003	2203	4300	6503	SO:0001583	missense	3645			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.3469C>T	chr1.hg19:g.156811515G>A	ENSP00000357178:p.Arg1157Cys		O60724|Q5VZS3	Missense_Mutation	SNP	ENST00000368195.3	hg19	CCDS1160.1	.	.	.	.	.	.	.	.	.	.	G	19.75	3.885533	0.72410	0.0	3.49E-4	ENSG00000027644	ENST00000368195	D	0.83755	-1.76	5.07	5.07	0.68467	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.47093	D	0.000245	D	0.88746	0.6520	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89679	0.3889	9	0.87932	D	0	.	12.2864	0.54795	0.0:0.0:0.8305:0.1695	.	1157	P14616	INSRR_HUMAN	C	1157	ENSP00000357178:R1157C	ENSP00000357178:R1157C	R	-	1	0	INSRR	155078139	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.247000	0.58750	2.639000	0.89480	0.561000	0.74099	CGC		0.627	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215		A	156811515	G	A	156811515	3	1	800	1	0	0	0	0	1	0	0	0	7776	1087	38	1	435	1	INSRR	1	156811515	Missense_Mutation	SNP	G	TCGA-UZ-A9PL-01A-11D-A382-10	66410620	156811515	92439106	4	47651											
CFHR4	3080	hgsc.bcm.edu	37	1	196887456	196887456	+	Intron	SNP	G	G	A			TCGA-UZ-A9PL-01A-11D-A382-10	TCGA-UZ-A9PL-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fd5fd508-d8c8-4630-9580-0c780b3202e1	6b5fdcae-db39-4f26-a632-d6da690b51ab	g.chr1:196887456G>A	ENST00000367421.3	+	2	135				CFHR4_ENST00000251424.4_Missense_Mutation_p.G306R|CFHR4_ENST00000608469.1_Missense_Mutation_p.G176R|CFHR4_ENST00000367416.2_Missense_Mutation_p.G552R|CFHR4_ENST00000367418.2_Missense_Mutation_p.G306R			P36980	FHR2_HUMAN	complement factor H-related 2							extracellular region (GO:0005576)				large_intestine(2)|ovary(1)|skin(3)	6						GTGTAAATTGGGATATAATGC	0.333																																																0													172	180	177					1																	196887456		2202	4300	6502	SO:0001627	intron_variant	10877			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.59-31129G>A	chr1.hg19:g.196887456G>A			Q14310|Q5T9T1	Missense_Mutation	SNP	ENST00000367421.3	hg19		.	.	.	.	.	.	.	.	.	.	G	7.601	0.672808	0.14776	.	.	ENSG00000134365	ENST00000367416;ENST00000367418;ENST00000251424;ENST00000538553	D;D;D	0.84223	-1.82;-1.82;-1.82	3.24	2.28	0.28536	Complement control module (1);	.	.	.	.	T	0.75715	0.3887	L	0.46157	1.445	0.09310	N	1	P;P;P	0.46706	0.825;0.883;0.685	B;B;B	0.34093	0.175;0.105;0.04	T	0.63932	-0.6525	9	0.48119	T	0.1	.	8.3994	0.32576	0.0:0.2442:0.7558:0.0	.	552;553;306	C9J7J7;Q5DVJ7;Q92496	.;.;FHR4_HUMAN	R	552;306;306;306	ENSP00000356386:G552R;ENSP00000356388:G306R;ENSP00000251424:G306R	ENSP00000251424:G306R	G	+	1	0	CFHR4	195154079	0.004000	0.15560	0.006000	0.13384	0.053000	0.15095	1.009000	0.29886	0.433000	0.26313	0.436000	0.28706	GGA		0.333	CFHR2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005666		A	196887456	G	A	196887456	1	1	800	0	1	0	0	0	0	0	0	0	3289	1233	43	2		2	CFHR4	1	196887456	Intron	SNP	G	TCGA-UZ-A9PL-01A-11D-A382-10	40075941	196887456	52363165	5	47652											
ALMS1	7840	hgsc.bcm.edu	37	2	73613036	73613036	+	Missense_Mutation	SNP	G	G	C	rs61156725|rs72319667|rs3074417	byFrequency	TCGA-UZ-A9PL-01A-11D-A382-10	TCGA-UZ-A9PL-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fd5fd508-d8c8-4630-9580-0c780b3202e1	6b5fdcae-db39-4f26-a632-d6da690b51ab	g.chr2:73613036G>C	ENST00000264448.6	+	1	151	c.40G>C	c.(40-42)Gag>Cag	p.E14Q	ALMS1_ENST00000409009.1_Missense_Mutation_p.E14Q|ALMS1_ENST00000377715.1_Missense_Mutation_p.E14Q	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	14	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)		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						CGAGCTggaggaggaggagga	0.692																																																1	Deletion - In frame(1)	ovary(1)											3	4	4					2																	73613036		1509	3234	4743	SO:0001583	missense	7840			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.40G>C	chr2.hg19:g.73613036G>C	ENSP00000264448:p.Glu14Gln		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	hg19	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.731519	0.48939	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.26373	2.4;2.61;1.74	3.19	3.19	0.36642	.	0.259523	0.20097	U	0.099311	T	0.32436	0.0829	N	0.19112	0.55	0.22317	N	0.999202	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.03493	-1.1031	10	0.87932	D	0	.	10.1262	0.42652	0.0:0.0:1.0:0.0	.	14;14	B8ZZJ3;Q8TCU4	.;ALMS1_HUMAN	Q	14	ENSP00000386627:E14Q;ENSP00000264448:E14Q;ENSP00000366944:E14Q	ENSP00000264448:E14Q	E	+	1	0	ALMS1	73466544	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	2.034000	0.41145	2.070000	0.61991	0.484000	0.47621	GAG		0.692	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		C	73613036	G	C	73613036	3	2	800	1	0	0	0	0	1	0	0	0	535	1175	41	4	42	4	ALMS1	2	73613036	Missense_Mutation	SNP	G	TCGA-UZ-A9PL-01A-11D-A382-10		73613036	169586337	6	47653											
SEMA4C	54910	hgsc.bcm.edu	37	2	97532110	97532110	+	Silent	SNP	C	C	T			TCGA-UZ-A9PL-01A-11D-A382-10	TCGA-UZ-A9PL-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fd5fd508-d8c8-4630-9580-0c780b3202e1	6b5fdcae-db39-4f26-a632-d6da690b51ab	g.chr2:97532110C>T	ENST00000305476.5	-	3	300	c.168G>A	c.(166-168)ctG>ctA	p.L56L		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	56	Dominant negative effect on myogenic differentiation. {ECO:0000250}.|Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell migration in hindbrain (GO:0021535)|cerebellum development (GO:0021549)|muscle cell differentiation (GO:0042692)|neural tube closure (GO:0001843)|positive regulation of stress-activated MAPK cascade (GO:0032874)|semaphorin-plexin signaling pathway (GO:0071526)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle membrane (GO:0030672)	receptor activity (GO:0004872)			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						CCGTCAGCGTCAGTGTCAGGA	0.652																																																0													85	85	85					2																	97532110		2203	4300	6503	SO:0001819	synonymous_variant	54910			AB051526	CCDS2029.1	2q11.2	2013-01-11			ENSG00000168758	ENSG00000168758		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10731	protein-coding gene	gene with protein product	"M-Sema F"	604462		SEMAI		7656991	Standard	NM_017789		Approved	Semacl1, Semaf	uc002sxh.4	Q9C0C4	OTTHUMG00000130535	ENST00000305476.5:c.168G>A	chr2.hg19:g.97532110C>T			Q32MJ3|Q7Z5X0	Silent	SNP	ENST00000305476.5	hg19	CCDS2029.1																																																																																				0.652	SEMA4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252957.1	NM_017789		T	97532110	C	T	97532110	2	4	800	1	0	0	0	0	0	0	0	1	14039	813	29	2		2	SEMA4C	2	97532110	Silent	SNP	C	TCGA-UZ-A9PL-01A-11D-A382-10	23919074	97532110	145667263	7	47654											
TTN	7273	hgsc.bcm.edu	37	2	179474203	179474203	+	Silent	SNP	A	A	T			TCGA-UZ-A9PL-01A-11D-A382-10	TCGA-UZ-A9PL-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fd5fd508-d8c8-4630-9580-0c780b3202e1	6b5fdcae-db39-4f26-a632-d6da690b51ab	g.chr2:179474203A>T	ENST00000591111.1	-	223	47135	c.46911T>A	c.(46909-46911)acT>acA	p.T15637T	TTN_ENST00000342992.6_Silent_p.T14710T|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Silent_p.T8405T|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Silent_p.T8338T|TTN_ENST00000460472.2_Silent_p.T8213T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Silent_p.T17278T			Q8WZ42	TITIN_HUMAN	titin	15637	Ig-like 98.				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)			TCCATGTAATAGTTGGGTAAG	0.413																																																0													100	94	96					2																	179474203		1890	4114	6004	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.46911T>A	chr2.hg19:g.179474203A>T			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	hg19																																																																																					0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179474203	A	T	179474203	2	4	800	1	0	0	0	0	0	0	0	1	16740	407	15	5		5	TTN	2	179474203	Silent	SNP	A	TCGA-UZ-A9PL-01A-11D-A382-10	81942093	179474203	63725170	8	47655											
TTN	7273	hgsc.bcm.edu	37	2	179611761	179611761	+	Intron	SNP	T	T	A			TCGA-UZ-A9PL-01A-11D-A382-10	TCGA-UZ-A9PL-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fd5fd508-d8c8-4630-9580-0c780b3202e1	6b5fdcae-db39-4f26-a632-d6da690b51ab	g.chr2:179611761T>A	ENST00000591111.1	-	46	10585				TTN_ENST00000342992.6_Intron|TTN_ENST00000360870.5_Silent_p.G5122G|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|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)			GGTTTGGTCCTCCAGTAGGAA	0.473																																																0													89	92	91					2																	179611761		2203	4300	6503	SO:0001627	intron_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10361-5113A>T	chr2.hg19:g.179611761T>A			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	hg19																																																																																					0.473	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179611761	T	A	179611761	1	1	800	0	1	0	0	0	0	0	0	0	16740	1538	54	5		5	TTN	2	179611761	Intron	SNP	T	TCGA-UZ-A9PL-01A-11D-A382-10	137558	179611761	63587612	9	47656											
CREB1	1385	hgsc.bcm.edu	37	2	208420472	208420472	+	Splice_Site	SNP	A	A	G			TCGA-UZ-A9PL-01A-11D-A382-10	TCGA-UZ-A9PL-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fd5fd508-d8c8-4630-9580-0c780b3202e1	6b5fdcae-db39-4f26-a632-d6da690b51ab	g.chr2:208420472A>G	ENST00000432329.2	+	2	364	c.113A>G	c.(112-114)cAg>cGg	p.Q38R	CREB1_ENST00000374397.4_Splice_Site_p.Q38R|CREB1_ENST00000430624.1_Splice_Site_p.Q38R|CREB1_ENST00000353267.3_Splice_Site_p.Q38R|CREB1_ENST00000536726.1_Splice_Site_p.Q38R	NM_134442.3	NP_604391.1	P16220	CREB1_HUMAN	cAMP responsive element binding protein 1	38					activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|cellular response to zinc ion (GO:0071294)|circadian rhythm (GO:0007623)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|lactation (GO:0007595)|lung saccule development (GO:0060430)|memory (GO:0007613)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription by competitive promoter binding (GO:0010944)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|pituitary gland development (GO:0021983)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of hormone secretion (GO:0046887)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of cell size (GO:0008361)|response to drug (GO:0042493)|response to glucagon (GO:0033762)|response to organic substance (GO:0010033)|secretory granule organization (GO:0033363)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|Type I pneumocyte differentiation (GO:0060509)|viral process (GO:0016032)	nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	cAMP response element binding (GO:0035497)|enzyme binding (GO:0019899)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)		EWSR1/CREB1(44)	NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|upper_aerodigestive_tract(1)	5				LUSC - Lung squamous cell carcinoma(261;0.0768)|Epithelial(149;0.127)|Lung(261;0.145)	Adenosine monophosphate(DB00131)|Naloxone(DB01183)	ACATTAGCCCAGGTATAAAAT	0.418			T	EWSR1	"clear cell sarcoma, angiomatoid fibrous histiocytoma"																																		Dom	yes		2	2q34	1385	cAMP responsive element binding protein 1		M	0													56	51	53					2																	208420472		2203	4300	6503	SO:0001630	splice_region_variant	1385			M27691	CCDS2374.1, CCDS2375.1	2q34	2013-01-10			ENSG00000118260	ENSG00000118260		"basic leucine zipper proteins"	2345	protein-coding gene	gene with protein product		123810					Standard	NM_134442		Approved		uc002vcc.3	P16220	OTTHUMG00000132936	ENST00000432329.2:c.114+1A>G	chr2.hg19:g.208420472A>G			P21934|Q6V963|Q9UMA7	Missense_Mutation	SNP	ENST00000432329.2	hg19	CCDS2375.1	.	.	.	.	.	.	.	.	.	.	A	18.37	3.609554	0.66558	.	.	ENSG00000118260	ENST00000430624;ENST00000432329;ENST00000353267;ENST00000445803;ENST00000536726;ENST00000374397;ENST00000452474;ENST00000414681	T;T;T;T;T;T;D	0.81499	0.36;0.18;0.36;-1.37;-1.3;-0.51;-1.5	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.85128	0.5626	M	0.64404	1.975	0.80722	D	1	D;P;P	0.52996	0.957;0.799;0.835	P;B;B	0.53954	0.738;0.214;0.275	D	0.85493	0.1186	10	0.48119	T	0.1	-7.8185	16.3197	0.82945	1.0:0.0:0.0:0.0	.	38;38;38	F5H0V3;Q53X93;P16220	.;.;CREB1_HUMAN	R	38	ENSP00000405539:Q38R;ENSP00000387699:Q38R;ENSP00000236995:Q38R;ENSP00000407227:Q38R;ENSP00000445892:Q38R;ENSP00000363518:Q38R;ENSP00000392428:Q38R	ENSP00000236995:Q38R	Q	+	2	0	CREB1	208128717	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.135000	0.89608	2.302000	0.77476	0.533000	0.62120	CAG		0.418	CREB1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256467.3	NM_134442	Missense_Mutation	G	208420472	A	G	208420472	5	3	800	1	0	0	0	0	0	0	1	0	3856	202	7	3	115	3	CREB1	2	208420472	Splice_Site	SNP	A	TCGA-UZ-A9PL-01A-11D-A382-10	28808711	208420472	34778901	10	47657											
ANKZF1	55139	hgsc.bcm.edu	37	2	220099756	220099756	+	Silent	SNP	A	A	G			TCGA-UZ-A9PL-01A-11D-A382-10	TCGA-UZ-A9PL-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fd5fd508-d8c8-4630-9580-0c780b3202e1	6b5fdcae-db39-4f26-a632-d6da690b51ab	g.chr2:220099756A>G	ENST00000323348.5	+	10	1587	c.1413A>G	c.(1411-1413)tcA>tcG	p.S471S	ANKZF1_ENST00000409849.1_Silent_p.S261S|ANKZF1_ENST00000410034.3_Silent_p.S471S|GLB1L_ENST00000497855.1_5'Flank	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	471						membrane (GO:0016020)	metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCACACAGTCATCCCAGGCAG	0.572																																																0													47	52	50					2																	220099756		1968	4157	6125	SO:0001819	synonymous_variant	55139			AF364318	CCDS42821.1, CCDS63129.1	2q35	2013-01-10			ENSG00000163516	ENSG00000163516		"Zinc fingers, C2H2-type", "Ankyrin repeat domain containing"	25527	protein-coding gene	gene with protein product						12477932	Standard	NM_018089		Approved	FLJ10415, ZNF744	uc002vkg.3	Q9H8Y5	OTTHUMG00000154533	ENST00000323348.5:c.1413A>G	chr2.hg19:g.220099756A>G			Q9NVZ4	Silent	SNP	ENST00000323348.5	hg19	CCDS42821.1																																																																																				0.572	ANKZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335790.1	NM_018089		G	220099756	A	G	220099756	2	3	800	1	0	0	0	0	0	0	0	1	693	204	8	3		3	ANKZF1	2	220099756	Silent	SNP	A	TCGA-UZ-A9PL-01A-11D-A382-10	11679284	220099756	23099617	11	47658											
SPEG	10290	hgsc.bcm.edu	37	2	220336993	220336993	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9PL-01A-11D-A382-10	TCGA-UZ-A9PL-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fd5fd508-d8c8-4630-9580-0c780b3202e1	6b5fdcae-db39-4f26-a632-d6da690b51ab	g.chr2:220336993G>A	ENST00000312358.7	+	15	4012	c.3880G>A	c.(3880-3882)Gtg>Atg	p.V1294M	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1294	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)		GGTGGTGGCTGTGACGGGGAG	0.652																																																0													50	56	54					2																	220336993		1987	4153	6140	SO:0001583	missense	10290			BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"Immunoglobulin superfamily / I-set domain containing"	16901	protein-coding gene	gene with protein product		615950	"aortic preferentially expressed gene 1"	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.3880G>A	chr2.hg19:g.220336993G>A	ENSP00000311684:p.Val1294Met		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	hg19	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.576553	0.45902	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.57595	0.39	4.61	4.61	0.57282	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.35040	N	0.003484	T	0.69788	0.3150	M	0.72894	2.215	0.80722	D	1	D	0.71674	0.998	D	0.64687	0.928	T	0.74203	-0.3741	10	0.62326	D	0.03	.	16.221	0.82258	0.0:0.0:1.0:0.0	.	1294	Q15772	SPEG_HUMAN	M	1294	ENSP00000311684:V1294M	ENSP00000265327:V1294M	V	+	1	0	SPEG	220045237	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	5.635000	0.67841	2.117000	0.64856	0.555000	0.69702	GTG		0.652	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		A	220336993	G	A	220336993	3	1	800	1	0	0	0	0	1	0	0	0	15041	1377	48	2	3950	2	SPEG	2	220336993	Missense_Mutation	SNP	G	TCGA-UZ-A9PL-01A-11D-A382-10	237237	220336993	22862380	12	47659											
SLC4A3	6508	hgsc.bcm.edu	37	2	220493130	220493131	+	Frame_Shift_Ins	INS	-	-	G			TCGA-UZ-A9PL-01A-11D-A382-10	TCGA-UZ-A9PL-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fd5fd508-d8c8-4630-9580-0c780b3202e1	6b5fdcae-db39-4f26-a632-d6da690b51ab	g.chr2:220493130_220493131insG	ENST00000358055.3	+	3	567_568	c.55_56insG	c.(55-57)cggfs	p.R19fs	SLC4A3_ENST00000317151.3_Frame_Shift_Ins_p.R19fs|SLC4A3_ENST00000373762.3_Frame_Shift_Ins_p.R19fs|SLC4A3_ENST00000273063.6_Frame_Shift_Ins_p.R19fs|SLC4A3_ENST00000373760.2_Frame_Shift_Ins_p.R19fs|AC009955.8_ENST00000455896.1_RNA			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	19					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)		CCTGCAGGTCCGGGTGCCCTTG	0.639																																																0																																										SO:0001589	frameshift_variant	6508				CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"Solute carriers"	11029	protein-coding gene	gene with protein product	"Anion exchanger 3, neuronal"	106195	"solute carrier family 4, anion exchanger, member 3"			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.58dupG	chr2.hg19:g.220493133_220493133dupG	ENSP00000350756:p.Arg19fs		A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Frame_Shift_Ins	INS	ENST00000358055.3	hg19	CCDS2445.1																																																																																				0.639	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		G	220493131	-	G	220493130	7	5	800	1	0	1	1	0	0	0	0	0	14661	643	23	0	61	0	SLC4A3	2	220493130	Frame_Shift_Ins	INS	-	TCGA-UZ-A9PL-01A-11D-A382-10	156137	220493130	22706243	13	47660											
SCG2	7857	hgsc.bcm.edu	37	2	224463553	224463553	+	Missense_Mutation	SNP	C	C	T			TCGA-UZ-A9PL-01A-11D-A382-10	TCGA-UZ-A9PL-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fd5fd508-d8c8-4630-9580-0c780b3202e1	6b5fdcae-db39-4f26-a632-d6da690b51ab	g.chr2:224463553C>T	ENST00000305409.2	-	2	680	c.448G>A	c.(448-450)Gat>Aat	p.D150N		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)			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)		GTCTCATAATCATCACTCATG	0.418																																																0													174	171	172					2																	224463553		2203	4300	6503	SO:0001583	missense	7857			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.448G>A	chr2.hg19:g.224463553C>T	ENSP00000304133:p.Asp150Asn		A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	ENST00000305409.2	hg19	CCDS2457.1	.	.	.	.	.	.	.	.	.	.	C	19.36	3.812797	0.70912	.	.	ENSG00000171951	ENST00000305409	T	0.02050	4.48	5.5	5.5	0.81552	.	0.226336	0.43919	D	0.000519	T	0.07548	0.0190	L	0.46157	1.445	0.49687	D	0.999817	D	0.53462	0.96	P	0.54460	0.753	T	0.04203	-1.0969	10	0.72032	D	0.01	.	19.775	0.96388	0.0:1.0:0.0:0.0	.	150	P13521	SCG2_HUMAN	N	150	ENSP00000304133:D150N	ENSP00000304133:D150N	D	-	1	0	SCG2	224171797	1.000000	0.71417	0.992000	0.48379	0.957000	0.61999	6.115000	0.71566	2.741000	0.93983	0.585000	0.79938	GAT		0.418	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256870.2	NM_003469		T	224463553	C	T	224463553	3	4	800	1	0	0	0	0	1	0	0	0	13897	826	29	2	1409	2	SCG2	2	224463553	Missense_Mutation	SNP	C	TCGA-UZ-A9PL-01A-11D-A382-10	3970423	224463553	18735820	14	47661											
C3orf20	84077	hgsc.bcm.edu	37	3	14803122	14803123	+	Splice_Site	DNP	GG	GG	AC			TCGA-UZ-A9PL-01A-11D-A382-10	TCGA-UZ-A9PL-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fd5fd508-d8c8-4630-9580-0c780b3202e1	6b5fdcae-db39-4f26-a632-d6da690b51ab	g.chr3:14803122_14803123GG>AC	ENST00000253697.3	+	15	2947	c.2495_2495GG>AC	c.(2494-2496)aGGg>aACgg	p.R832N	C3orf20_ENST00000412910.1_Splice_Site_p.R710N|C3orf20_ENST00000435614.1_Splice_Site_p.R710N	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	832						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						TACAAATTCAGGTAAAACAGGA	0.53																																																0																																										SO:0001630	splice_region_variant	84077			AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	Exception_encountered	chr3.hg19:g.14803122_14803123delinsAC			Q7L0U6|Q8NCP2|Q9H0I7	Missense_Mutation|Splice_Site	SNP	ENST00000253697.3	hg19	CCDS33706.1																																																																																				0.53	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340586.1	NM_032137	Missense_Mutation	AC	14803123	GG	AC	14803122	5	1	800	1	0	0	0	0	0	0	1	0	2215	1014	35	2	2545	2	C3orf20	3	14803122	Splice_Site	DNP	GG	TCGA-UZ-A9PL-01A-11D-A382-10		14803122	183219308	15	47662											
UQCRC1	7384	hgsc.bcm.edu	37	3	48637112	48637118	+	Frame_Shift_Del	DEL	CAGATCT	CAGATCT	-	rs3172495		TCGA-UZ-A9PL-01A-11D-A382-10	TCGA-UZ-A9PL-10A-01D-A385-10	CAGATCT	CAGATCT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fd5fd508-d8c8-4630-9580-0c780b3202e1	6b5fdcae-db39-4f26-a632-d6da690b51ab	g.chr3:48637112_48637118delCAGATCT	ENST00000203407.5	-	12	1744_1750	c.1328_1334delAGATCTG	c.(1327-1335)gagatctgcfs	p.EIC443fs		NM_003365.2	NP_003356.2	P31930	QCR1_HUMAN	ubiquinol-cytochrome c reductase core protein I	443					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|oxidation-reduction process (GO:0055114)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|response to activity (GO:0014823)|response to alkaloid (GO:0043279)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GTACTTGGAGCAGATCTCACGTACCAC	0.565																																					NSCLC(81;1112 1427 27031 32409 45529)											0																																										SO:0001589	frameshift_variant	7384			BC009586	CCDS2774.1	3p21	2011-07-04			ENSG00000010256	ENSG00000010256	1.10.2.2	"Mitochondrial respiratory chain complex / Complex III"	12585	protein-coding gene	gene with protein product		191328				8407948	Standard	NM_003365		Approved	D3S3191, QCR1, UQCR1	uc003cub.1	P31930	OTTHUMG00000133539	ENST00000203407.5:c.1328_1334delAGATCTG	chr3.hg19:g.48637112_48637118delCAGATCT	ENSP00000203407:p.Glu443fs		B2R7R8|Q96DD2	Frame_Shift_Del	DEL	ENST00000203407.5	hg19	CCDS2774.1																																																																																				0.565	UQCRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257517.1	NM_003365		-	48637118	CAGATCT	-	48637112	7	5	800	1	0	1	0	1	0	0	0	0	17024	710	25	0	116	0	UQCRC1	3	48637112	Frame_Shift_Del	DEL	CAGATCT	TCGA-UZ-A9PL-01A-11D-A382-10	33833990	48637112	149385318	16	47663											
KBTBD8	84541	hgsc.bcm.edu	37	3	67053891	67053891	+	Missense_Mutation	SNP	T	T	C			TCGA-UZ-A9PL-01A-11D-A382-10	TCGA-UZ-A9PL-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fd5fd508-d8c8-4630-9580-0c780b3202e1	6b5fdcae-db39-4f26-a632-d6da690b51ab	g.chr3:67053891T>C	ENST00000417314.2	+	3	549	c.500T>C	c.(499-501)cTc>cCc	p.L167P	KBTBD8_ENST00000460576.1_Intron|KBTBD8_ENST00000469661.1_Intron|KBTBD8_ENST00000295568.4_Missense_Mutation_p.L141P			Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	167	BACK.					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)		CATCAGGAACTCGGAGATCGA	0.378																																																0													63	63	63					3																	67053891		2203	4300	6503	SO:0001583	missense	84541			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.500T>C	chr3.hg19:g.67053891T>C	ENSP00000401878:p.Leu167Pro		B4DTW6|Q96JI5	Missense_Mutation	SNP	ENST00000417314.2	hg19	CCDS2906.2	.	.	.	.	.	.	.	.	.	.	T	18.91	3.723529	0.68959	.	.	ENSG00000163376	ENST00000295568;ENST00000484414;ENST00000417314;ENST00000460784	D;D;D;D	0.84370	-1.53;-1.53;-1.53;-1.84	5.01	5.01	0.66863	BTB/Kelch-associated (2);	0.066397	0.64402	D	0.000016	D	0.94545	0.8243	H	0.95224	3.64	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.96098	0.9067	10	0.87932	D	0	.	15.0085	0.71530	0.0:0.0:0.0:1.0	.	167	Q8NFY9	KBTB8_HUMAN	P	141;90;167;141	ENSP00000295568:L141P;ENSP00000417341:L90P;ENSP00000401878:L167P;ENSP00000418075:L141P	ENSP00000295568:L141P	L	+	2	0	KBTBD8	67136581	1.000000	0.71417	0.993000	0.49108	0.985000	0.73830	7.976000	0.88070	1.999000	0.58509	0.405000	0.27470	CTC		0.378	KBTBD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352189.1	NM_032505		C	67053891	T	C	67053891	3	2	800	1	0	0	0	0	1	0	0	0	8001	1551	54	3	510	3	KBTBD8	3	67053891	Missense_Mutation	SNP	T	TCGA-UZ-A9PL-01A-11D-A382-10	18416779	67053891	130968539	17	47664											
UMPS	7372	hgsc.bcm.edu	37	3	124458913	124458913	+	Frame_Shift_Del	DEL	C	C	-			TCGA-UZ-A9PL-01A-11D-A382-10	TCGA-UZ-A9PL-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fd5fd508-d8c8-4630-9580-0c780b3202e1	6b5fdcae-db39-4f26-a632-d6da690b51ab	g.chr3:124458913delC	ENST00000232607.2	+	4	1131	c.1025delC	c.(1024-1026)gctfs	p.A342fs	UMPS_ENST00000413078.2_Intron|UMPS_ENST00000536109.1_Frame_Shift_Del_p.A250fs|UMPS_ENST00000538242.1_Frame_Shift_Del_p.A164fs	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN	uridine monophosphate synthetase	342	OMPdecase.				'de novo' pyrimidine nucleobase biosynthetic process (GO:0006207)|'de novo' UMP biosynthetic process (GO:0044205)|cellular response to drug (GO:0035690)|female pregnancy (GO:0007565)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|small molecule metabolic process (GO:0044281)|UMP biosynthetic process (GO:0006222)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	orotate phosphoribosyltransferase activity (GO:0004588)|orotidine-5'-phosphate decarboxylase activity (GO:0004590)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)	Fluorouracil(DB00544)	CTAGTAAATGCTCACGTGGTG	0.483																																																0													98	100	99					3																	124458913		2203	4300	6503	SO:0001589	frameshift_variant	7372				CCDS3029.1	3q13	2008-02-04	2008-02-04		ENSG00000114491	ENSG00000114491	2.4.2.10, 4.1.1.23		12563	protein-coding gene	gene with protein product	"orotate phosphoribosyl transferase and orotidine-5'-decarboxylase"	613891				2767686	Standard	NM_000373		Approved		uc003ehl.4	P11172	OTTHUMG00000159431	ENST00000232607.2:c.1025delC	chr3.hg19:g.124458913delC	ENSP00000232607:p.Ala342fs		B5LY68|B5LY72|O00758|O00759|O00760|Q16862|Q9H3Q2|Q9UG49	Frame_Shift_Del	DEL	ENST00000232607.2	hg19	CCDS3029.1																																																																																				0.483	UMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355271.1	NM_000373		-	124458913	C	-	124458913	7	5	800	1	0	1	0	1	0	0	0	0	16986	797	28	0	1039	0	UMPS	3	124458913	Frame_Shift_Del	DEL	C	TCGA-UZ-A9PL-01A-11D-A382-10	57405022	124458913	73563517	18	47665	511	2									
UMPS	7372	hgsc.bcm.edu	37	3	124458915	124458920	+	In_Frame_Del	DEL	CACGTG	CACGTG	-	rs374066947		TCGA-UZ-A9PL-01A-11D-A382-10	TCGA-UZ-A9PL-10A-01D-A385-10	CACGTG	CACGTG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fd5fd508-d8c8-4630-9580-0c780b3202e1	6b5fdcae-db39-4f26-a632-d6da690b51ab	g.chr3:124458915_124458920delCACGTG	ENST00000232607.2	+	4	1133_1138	c.1027_1032delCACGTG	c.(1027-1032)cacgtgdel	p.HV343del	UMPS_ENST00000413078.2_Intron|UMPS_ENST00000536109.1_In_Frame_Del_p.HV251del|UMPS_ENST00000538242.1_In_Frame_Del_p.HV165del	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN	uridine monophosphate synthetase	343	OMPdecase.				'de novo' pyrimidine nucleobase biosynthetic process (GO:0006207)|'de novo' UMP biosynthetic process (GO:0044205)|cellular response to drug (GO:0035690)|female pregnancy (GO:0007565)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|small molecule metabolic process (GO:0044281)|UMP biosynthetic process (GO:0006222)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	orotate phosphoribosyltransferase activity (GO:0004588)|orotidine-5'-phosphate decarboxylase activity (GO:0004590)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)	Fluorouracil(DB00544)	AGTAAATGCTCACGTGGTGCCAGGCT	0.49																																																0																																										SO:0001651	inframe_deletion	7372				CCDS3029.1	3q13	2008-02-04	2008-02-04		ENSG00000114491	ENSG00000114491	2.4.2.10, 4.1.1.23		12563	protein-coding gene	gene with protein product	"orotate phosphoribosyl transferase and orotidine-5'-decarboxylase"	613891				2767686	Standard	NM_000373		Approved		uc003ehl.4	P11172	OTTHUMG00000159431	ENST00000232607.2:c.1027_1032delCACGTG	chr3.hg19:g.124458915_124458920delCACGTG	ENSP00000232607:p.His343_Val344del		B5LY68|B5LY72|O00758|O00759|O00760|Q16862|Q9H3Q2|Q9UG49	In_Frame_Del	DEL	ENST00000232607.2	hg19	CCDS3029.1																																																																																				0.49	UMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355271.1	NM_000373		-	124458920	CACGTG	-	124458915	7	5	800	1	0	1	0	1	0	0	0	0	16986	826	29	0	1041	0	UMPS	3	124458915	In_Frame_Del	DEL	CACGTG	TCGA-UZ-A9PL-01A-11D-A382-10	2	124458915	73563515	19	47666	511	2									
PIK3CA	5290	hgsc.bcm.edu	37	3	178943786	178943786	+	Missense_Mutation	SNP	G	G	T	rs371049193		TCGA-UZ-A9PL-01A-11D-A382-10	TCGA-UZ-A9PL-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fd5fd508-d8c8-4630-9580-0c780b3202e1	6b5fdcae-db39-4f26-a632-d6da690b51ab	g.chr3:178943786G>T	ENST00000263967.3	+	17	2610	c.2453G>T	c.(2452-2454)cGt>cTt	p.R818L		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	818	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)			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)	CAAATTATTCGTATTATGGAA	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)		Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	0													98	91	93					3																	178943786		1839	4090	5929	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.2453G>T	chr3.hg19:g.178943786G>T	ENSP00000263967:p.Arg818Leu		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	hg19	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.155593	0.78114	.	.	ENSG00000121879	ENST00000263967	T	0.79247	-1.25	5.46	5.46	0.80206	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.123751	0.52532	D	0.000078	T	0.82010	0.4944	M	0.74467	2.265	0.80722	D	1	B	0.33318	0.408	B	0.39339	0.297	T	0.82653	-0.0351	10	0.62326	D	0.03	-7.3047	19.3097	0.94182	0.0:0.0:1.0:0.0	.	818	P42336	PK3CA_HUMAN	L	818	ENSP00000263967:R818L	ENSP00000263967:R818L	R	+	2	0	PIK3CA	180426480	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.373000	0.59537	2.569000	0.86673	0.557000	0.71058	CGT		0.348	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			T	178943786	G	T	178943786	3	4	800	1	0	0	0	0	1	0	0	0	11915	1145	40	4	2515	4	PIK3CA	3	178943786	Missense_Mutation	SNP	G	TCGA-UZ-A9PL-01A-11D-A382-10	54484871	178943786	19078644	20	47667											
ATP10D	57205	hgsc.bcm.edu	37	4	47593159	47593159	+	Missense_Mutation	SNP	A	A	G			TCGA-UZ-A9PL-01A-11D-A382-10	TCGA-UZ-A9PL-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fd5fd508-d8c8-4630-9580-0c780b3202e1	6b5fdcae-db39-4f26-a632-d6da690b51ab	g.chr4:47593159A>G	ENST00000273859.3	+	23	4311	c.4042A>G	c.(4042-4044)Aag>Gag	p.K1348E		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1348					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						TAAAGCTCTCAAGAAGTGGAG	0.473																																																0													95	97	97					4																	47593159		2203	4299	6502	SO:0001583	missense	57205			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.4042A>G	chr4.hg19:g.47593159A>G	ENSP00000273859:p.Lys1348Glu		A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	ENST00000273859.3	hg19	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	A	17.60	3.429275	0.62844	.	.	ENSG00000145246	ENST00000273859	T	0.38722	1.12	4.62	4.62	0.57501	.	0.059193	0.64402	D	0.000002	T	0.42040	0.1185	M	0.69823	2.125	0.80722	D	1	B	0.21147	0.052	B	0.26864	0.074	T	0.30707	-0.9969	10	0.13108	T	0.6	-15.5389	13.3654	0.60680	1.0:0.0:0.0:0.0	.	1348	Q9P241	AT10D_HUMAN	E	1348	ENSP00000273859:K1348E	ENSP00000273859:K1348E	K	+	1	0	ATP10D	47287916	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	4.713000	0.61895	1.917000	0.55516	0.377000	0.23210	AAG		0.473	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		G	47593159	A	G	47593159	3	3	800	1	0	0	0	0	1	0	0	0	1118	131	5	3	4128	3	ATP10D	4	47593159	Missense_Mutation	SNP	A	TCGA-UZ-A9PL-01A-11D-A382-10		47593159	143561117	21	47668											
LPHN3	23284	hgsc.bcm.edu	37	4	62936619	62936619	+	Missense_Mutation	SNP	G	G	T			TCGA-UZ-A9PL-01A-11D-A382-10	TCGA-UZ-A9PL-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fd5fd508-d8c8-4630-9580-0c780b3202e1	6b5fdcae-db39-4f26-a632-d6da690b51ab	g.chr4:62936619G>T	ENST00000514591.1	+	25	4732	c.4403G>T	c.(4402-4404)aGt>aTt	p.S1468I	LPHN3_ENST00000512091.2_3'UTR|LPHN3_ENST00000507164.1_3'UTR|LPHN3_ENST00000507625.1_Missense_Mutation_p.S1527I|LPHN3_ENST00000506720.1_Missense_Mutation_p.S1579I|LPHN3_ENST00000514996.1_Missense_Mutation_p.S1502I|LPHN3_ENST00000514157.1_3'UTR|RP11-84A1.3_ENST00000504135.1_RNA|LPHN3_ENST00000545650.1_Missense_Mutation_p.S1468I|LPHN3_ENST00000506700.1_3'UTR|LPHN3_ENST00000506746.1_Missense_Mutation_p.S1570I|LPHN3_ENST00000508946.1_Missense_Mutation_p.S1511I|RP11-84A1.3_ENST00000509461.1_RNA|LPHN3_ENST00000504896.1_3'UTR|LPHN3_ENST00000511324.1_3'UTR|RP11-84A1.3_ENST00000506704.1_RNA|LPHN3_ENST00000508693.1_3'UTR|LPHN3_ENST00000509896.1_3'UTR			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1446					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						TTGGTCACTAGTCTATAGAAG	0.448																																																0													45	46	46					4																	62936619		692	1591	2283	SO:0001583	missense	23284			AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"-", "GPCR / Class B : Orphans"	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.4403G>T	chr4.hg19:g.62936619G>T	ENSP00000422533:p.Ser1468Ile		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	hg19	CCDS54768.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.44|18.44	3.624809|3.624809	0.66901|0.66901	.|.	.|.	ENSG00000150471|ENSG00000150471	ENST00000514591;ENST00000545650;ENST00000295349;ENST00000507625;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996|ENST00000502815	D;D;D;T;T;T;T|.	0.84800|.	-1.83;-1.83;-1.9;-1.37;-1.41;-1.43;-1.39|.	5.5|5.5	5.5|5.5	0.81552|0.81552	GPCR, family 2, latrophilin, C-terminal (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.77384|.	0.4122|.	M|M	0.75777|0.75777	2.31|2.31	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.999|.	D;D|.	0.87578|.	0.998;0.998|.	T|.	0.76575|.	-0.2909|.	10|.	0.87932|.	D|.	0|.	.|.	19.4053|19.4053	0.94646|0.94646	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1468;1446|.	E9PE04;Q9HAR2|.	.;LPHN3_HUMAN|.	I|Y	1468;1468;1446;1527;1511;1579;1570;1502|916	ENSP00000422533:S1468I;ENSP00000439831:S1468I;ENSP00000421372:S1527I;ENSP00000421627:S1511I;ENSP00000420931:S1579I;ENSP00000425884:S1570I;ENSP00000424258:S1502I|.	ENSP00000295349:S1446I|.	S|X	+|+	2|3	0|2	LPHN3|LPHN3	62619214|62619214	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.965000|0.965000	0.64279|0.64279	9.370000|9.370000	0.97159|0.97159	2.607000|2.607000	0.88179|0.88179	0.591000|0.591000	0.81541|0.81541	AGT|TAG		0.448	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			T	62936619	G	T	62936619	3	4	800	1	0	0	0	0	1	0	0	0	8919	1029	36	4	4493	4	LPHN3	4	62936619	Missense_Mutation	SNP	G	TCGA-UZ-A9PL-01A-11D-A382-10	15343460	62936619	128217657	22	47669											
SH3RF1	57630	hgsc.bcm.edu	37	4	170037559	170037559	+	Missense_Mutation	SNP	G	G	T			TCGA-UZ-A9PL-01A-11D-A382-10	TCGA-UZ-A9PL-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fd5fd508-d8c8-4630-9580-0c780b3202e1	6b5fdcae-db39-4f26-a632-d6da690b51ab	g.chr4:170037559G>T	ENST00000284637.9	-	10	2341	c.2000C>A	c.(1999-2001)cCa>cAa	p.P667Q	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	667					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)		GGTGATGCTTGGGGAAGTCAG	0.607																																																0													64	55	58					4																	170037559		2203	4300	6503	SO:0001583	missense	57630			BC033203	CCDS34099.1	4q32.3	2013-01-09	2006-02-13	2006-02-13	ENSG00000154447	ENSG00000154447		"RING-type (C3HC4) zinc fingers"	17650	protein-coding gene	gene with protein product	"plenty of SH3 domains"		"SH3 multiple domains 2"	SH3MD2		9482736	Standard	NM_020870		Approved	POSH, RNF142, KIAA1494	uc003isa.1	Q7Z6J0	OTTHUMG00000161010	ENST00000284637.9:c.2000C>A	chr4.hg19:g.170037559G>T	ENSP00000284637:p.Pro667Gln		Q05BT2|Q8IW46|Q9HAM2|Q9P234	Missense_Mutation	SNP	ENST00000284637.9	hg19	CCDS34099.1	.	.	.	.	.	.	.	.	.	.	G	11.12	1.544876	0.27652	.	.	ENSG00000154447	ENST00000284637	T	0.17691	2.26	5.49	3.75	0.43078	.	0.326104	0.37857	N	0.001901	T	0.29882	0.0747	L	0.60455	1.87	0.36906	D	0.890651	D	0.54047	0.964	P	0.52267	0.694	T	0.12041	-1.0563	10	0.37606	T	0.19	-2.4822	17.3497	0.87320	0.0:0.0:0.7757:0.2243	.	667	Q7Z6J0	SH3R1_HUMAN	Q	667	ENSP00000284637:P667Q	ENSP00000284637:P667Q	P	-	2	0	SH3RF1	170274134	1.000000	0.71417	0.003000	0.11579	0.000000	0.00434	5.877000	0.69675	0.279000	0.22186	-3.073000	0.00066	CCA		0.607	SH3RF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363382.3	NM_020870		T	170037559	G	T	170037559	3	4	800	1	0	0	0	0	1	0	0	0	14264	1348	47	4	678	4	SH3RF1	4	170037559	Missense_Mutation	SNP	G	TCGA-UZ-A9PL-01A-11D-A382-10	107100940	170037559	21116717	23	47670											
C6	729	hgsc.bcm.edu	37	5	41201803	41201803	+	Missense_Mutation	SNP	C	C	A			TCGA-UZ-A9PL-01A-11D-A382-10	TCGA-UZ-A9PL-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fd5fd508-d8c8-4630-9580-0c780b3202e1	6b5fdcae-db39-4f26-a632-d6da690b51ab	g.chr5:41201803C>A	ENST00000263413.3	-	3	421	c.157G>T	c.(157-159)Gat>Tat	p.D53Y	C6_ENST00000337836.5_Missense_Mutation_p.D53Y	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	53	TSP type-1 1. {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)		p.D53Y(1)		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)				TAGTACTTATCTACTACTATT	0.393																																																1	Substitution - Missense(1)	lung(1)											91	92	91					5																	41201803		2203	4300	6503	SO:0001583	missense	729			J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"Complement system"	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.157G>T	chr5.hg19:g.41201803C>A	ENSP00000263413:p.Asp53Tyr			Missense_Mutation	SNP	ENST00000263413.3	hg19	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.204041	0.79127	.	.	ENSG00000039537	ENST00000337836;ENST00000263413;ENST00000417809	T;T;T	0.53423	0.62;0.62;0.62	5.92	-1.99	0.07457	.	0.226533	0.51477	D	0.000094	T	0.65144	0.2663	M	0.82323	2.585	0.09310	N	0.999999	D	0.76494	0.999	D	0.72338	0.977	T	0.62067	-0.6932	10	0.87932	D	0	-4.1584	11.7594	0.51894	0.0:0.5428:0.0:0.4572	.	53	P13671	CO6_HUMAN	Y	53	ENSP00000338861:D53Y;ENSP00000263413:D53Y;ENSP00000396565:D53Y	ENSP00000263413:D53Y	D	-	1	0	C6	41237560	0.002000	0.14202	0.000000	0.03702	0.862000	0.49288	-0.031000	0.12287	-0.800000	0.04433	0.655000	0.94253	GAT		0.393	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			A	41201803	C	A	41201803	3	1	800	1	0	0	0	0	1	0	0	0	2317	913	32	4	2711	4	C6	5	41201803	Missense_Mutation	SNP	C	TCGA-UZ-A9PL-01A-11D-A382-10		41201803	139713457	24	47671											
HCN1	348980	hgsc.bcm.edu	37	5	45462104	45462104	+	Missense_Mutation	SNP	G	G	T			TCGA-UZ-A9PL-01A-11D-A382-10	TCGA-UZ-A9PL-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fd5fd508-d8c8-4630-9580-0c780b3202e1	6b5fdcae-db39-4f26-a632-d6da690b51ab	g.chr5:45462104G>T	ENST00000303230.4	-	3	912	c.855C>A	c.(853-855)ttC>ttA	p.F285L		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	285					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						ATGTCATGTGGAATATCTGTT	0.373																																																0													52	52	52					5																	45462104		2203	4300	6503	SO:0001583	missense	348980			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.855C>A	chr5.hg19:g.45462104G>T	ENSP00000307342:p.Phe285Leu			Missense_Mutation	SNP	ENST00000303230.4	hg19	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.788182	0.70337	.	.	ENSG00000164588	ENST00000303230	D	0.98362	-4.89	5.53	4.66	0.58398	Ion transport (1);	0.000000	0.64402	D	0.000002	D	0.96661	0.8910	N	0.21324	0.655	0.58432	D	0.999996	P	0.38048	0.616	P	0.48334	0.574	D	0.96289	0.9212	10	0.45353	T	0.12	.	14.1403	0.65316	0.072:0.0:0.928:0.0	.	285	O60741	HCN1_HUMAN	L	285	ENSP00000307342:F285L	ENSP00000307342:F285L	F	-	3	2	HCN1	45497861	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.589000	0.53972	1.351000	0.45789	0.650000	0.86243	TTC		0.373	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		T	45462104	G	T	45462104	3	4	800	1	0	0	0	0	1	0	0	0	6998	1165	41	4	1841	4	HCN1	5	45462104	Missense_Mutation	SNP	G	TCGA-UZ-A9PL-01A-11D-A382-10	4260301	45462104	135453156	25	47672											
BDP1	55814	hgsc.bcm.edu	37	5	70793235	70793235	+	Silent	SNP	A	A	G			TCGA-UZ-A9PL-01A-11D-A382-10	TCGA-UZ-A9PL-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fd5fd508-d8c8-4630-9580-0c780b3202e1	6b5fdcae-db39-4f26-a632-d6da690b51ab	g.chr5:70793235A>G	ENST00000358731.4	+	13	2201	c.1938A>G	c.(1936-1938)tcA>tcG	p.S646S	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	646					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)		ATTCACATTCAAAAACTTCAG	0.348																																																0													75	69	71					5																	70793235		1806	4078	5884	SO:0001819	synonymous_variant	55814			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.1938A>G	chr5.hg19:g.70793235A>G			Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Silent	SNP	ENST00000358731.4	hg19	CCDS43328.1																																																																																				0.348	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		G	70793235	A	G	70793235	2	3	800	1	0	0	0	0	0	0	0	1	1395	117	5	3		3	BDP1	5	70793235	Silent	SNP	A	TCGA-UZ-A9PL-01A-11D-A382-10	25331131	70793235	110122025	26	47673											
AP3B1	8546	hgsc.bcm.edu	37	5	77511925	77511925	+	Missense_Mutation	SNP	A	A	G			TCGA-UZ-A9PL-01A-11D-A382-10	TCGA-UZ-A9PL-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fd5fd508-d8c8-4630-9580-0c780b3202e1	6b5fdcae-db39-4f26-a632-d6da690b51ab	g.chr5:77511925A>G	ENST00000255194.6	-	7	915	c.740T>C	c.(739-741)aTg>aCg	p.M247T	AP3B1_ENST00000519295.1_Missense_Mutation_p.M198T	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	247					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)		TCGAGTTAGCATGTGGATTAT	0.423									Hermansky-Pudlak syndrome																																							0													143	135	138					5																	77511925		2203	4300	6503	SO:0001583	missense	8546	Familial Cancer Database	HPS, HPS1-8	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.740T>C	chr5.hg19:g.77511925A>G	ENSP00000255194:p.Met247Thr		E5RJ68|O00580|Q7Z393|Q9HD66	Missense_Mutation	SNP	ENST00000255194.6	hg19	CCDS4041.1	.	.	.	.	.	.	.	.	.	.	A	18.26	3.585230	0.66105	.	.	ENSG00000132842	ENST00000255194;ENST00000519295;ENST00000535760;ENST00000535667	T;T	0.25250	1.81;1.81	5.54	5.54	0.83059	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.37376	0.1001	L	0.50847	1.595	0.80722	D	1	B	0.32968	0.392	P	0.45276	0.475	T	0.25117	-1.0141	10	0.87932	D	0	-11.4846	15.6919	0.77461	1.0:0.0:0.0:0.0	.	247	O00203	AP3B1_HUMAN	T	247;198;247;151	ENSP00000255194:M247T;ENSP00000430597:M198T	ENSP00000255194:M247T	M	-	2	0	AP3B1	77547681	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.284000	0.95882	2.112000	0.64535	0.533000	0.62120	ATG		0.423	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000225548.2			G	77511925	A	G	77511925	3	3	800	1	0	0	0	0	1	0	0	0	744	217	8	3	2628	3	AP3B1	5	77511925	Missense_Mutation	SNP	A	TCGA-UZ-A9PL-01A-11D-A382-10	6718690	77511925	103403335	27	47674											
GPR98	84059	hgsc.bcm.edu	37	5	90016841	90016841	+	Missense_Mutation	SNP	A	A	G			TCGA-UZ-A9PL-01A-11D-A382-10	TCGA-UZ-A9PL-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fd5fd508-d8c8-4630-9580-0c780b3202e1	6b5fdcae-db39-4f26-a632-d6da690b51ab	g.chr5:90016841A>G	ENST00000405460.2	+	45	9809	c.9713A>G	c.(9712-9714)cAg>cGg	p.Q3238R		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3238					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)		GTGAGTGTGCAGTGGGAGACA	0.368																																																0													166	164	164					5																	90016841		1932	4157	6089	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.9713A>G	chr5.hg19:g.90016841A>G	ENSP00000384582:p.Gln3238Arg		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	hg19	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.95|18.95	3.732376|3.732376	0.69189|0.69189	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619|ENST00000509621	T|.	0.26373|.	1.74|.	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	0.142471|.	0.64402|.	D|.	0.000008|.	T|T	0.54711|0.54711	0.1875|0.1875	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	B;B|.	0.26195|.	0.144;0.057|.	B;B|.	0.18263|.	0.021;0.01|.	T|T	0.51521|0.51521	-0.8695|-0.8695	10|5	0.59425|.	D|.	0.04|.	.|.	15.9011|15.9011	0.79377|0.79377	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	3238;3238|.	E7ETI5;Q8WXG9|.	.;GPR98_HUMAN|.	R|G	3238|804	ENSP00000384582:Q3238R|.	ENSP00000296619:Q3238R|.	Q|S	+|+	2|1	0|0	GPR98|GPR98	90052597|90052597	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	6.532000|6.532000	0.73825|0.73825	2.158000|2.158000	0.67659|0.67659	0.528000|0.528000	0.53228|0.53228	CAG|AGT		0.368	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		G	90016841	A	G	90016841	3	3	800	1	0	0	0	0	1	0	0	0	6723	188	7	3	9891	3	GPR98	5	90016841	Missense_Mutation	SNP	A	TCGA-UZ-A9PL-01A-11D-A382-10	12504916	90016841	90898419	28	47675											
FAM13B	51306	hgsc.bcm.edu	37	5	137295872	137295873	+	Frame_Shift_Ins	INS	-	-	T	rs149593352	byFrequency	TCGA-UZ-A9PL-01A-11D-A382-10	TCGA-UZ-A9PL-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fd5fd508-d8c8-4630-9580-0c780b3202e1	6b5fdcae-db39-4f26-a632-d6da690b51ab	g.chr5:137295872_137295873insT	ENST00000033079.3	-	12	1726_1727	c.1275_1276insA	c.(1273-1278)aaattgfs	p.L426fs	FAM13B_ENST00000420893.2_Frame_Shift_Ins_p.L426fs|FAM13B_ENST00000425075.2_Frame_Shift_Ins_p.L308fs	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	426					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(4)|kidney(2)|lung(5)	11						AAGTGTGACAATTTATCACTGT	0.277																																																0																																										SO:0001589	frameshift_variant	51306			AF251038	CCDS4195.1, CCDS47269.1, CCDS47270.1	5q31	2011-09-07	2009-01-20	2009-01-20	ENSG00000031003	ENSG00000031003		"Rho GTPase activating proteins"	1335	protein-coding gene	gene with protein product		609371	"chromosome 5 open reading frame 5", "family with sequence similarity 13, member B1"	C5orf5, FAM13B1		11087669, 11161817	Standard	NM_016603		Approved	N61, KHCHP, ARHGAP49	uc003lbz.2	Q9NYF5	OTTHUMG00000129202	ENST00000033079.3:c.1276dupA	chr5.hg19:g.137295875_137295875dupT	ENSP00000033079:p.Leu426fs		D3DQB5|G3V0H9|Q3ZCR0|Q6PGQ2|Q9P0I7	Frame_Shift_Ins	INS	ENST00000033079.3	hg19	CCDS4195.1																																																																																				0.277	FAM13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251279.1			T	137295873	-	T	137295872	7	5	800	1	0	1	1	0	0	0	0	0	5455	98	4	0	1589	0	FAM13B	5	137295872	Frame_Shift_Ins	INS	-	TCGA-UZ-A9PL-01A-11D-A382-10	47279031	137295872	43619388	29	47676											
DIAPH1	1729	hgsc.bcm.edu	37	5	140909206	140909206	+	Missense_Mutation	SNP	C	C	G			TCGA-UZ-A9PL-01A-11D-A382-10	TCGA-UZ-A9PL-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fd5fd508-d8c8-4630-9580-0c780b3202e1	6b5fdcae-db39-4f26-a632-d6da690b51ab	g.chr5:140909206C>G	ENST00000398557.4	-	20	2780	c.2640G>C	c.(2638-2640)gaG>gaC	p.E880D	DIAPH1_ENST00000494967.1_5'UTR|DIAPH1_ENST00000389054.3_Missense_Mutation_p.E877D|DIAPH1_ENST00000398562.2_Missense_Mutation_p.E856D|DIAPH1_ENST00000520569.1_Missense_Mutation_p.E823D|DIAPH1_ENST00000253811.6_Missense_Mutation_p.E881D|DIAPH1_ENST00000398566.3_Missense_Mutation_p.E872D|DIAPH1_ENST00000518047.1_Missense_Mutation_p.E868D|DIAPH1_ENST00000389057.5_Missense_Mutation_p.E871D	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	880	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				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)			CCTCATTCACCTCCAGGATGA	0.483																																																0													122	115	118					5																	140909206		1995	4191	6186	SO:0001583	missense	1729			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.2640G>C	chr5.hg19:g.140909206C>G	ENSP00000381565:p.Glu880Asp		A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Missense_Mutation	SNP	ENST00000398557.4	hg19	CCDS43374.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.252794	0.59212	.	.	ENSG00000131504	ENST00000389054;ENST00000520569;ENST00000398562;ENST00000389057;ENST00000398566;ENST00000398557;ENST00000253811;ENST00000518047	T;T;T;T;T;T;T;T	0.19105	2.17;2.17;2.17;2.17;2.17;2.17;2.17;2.17	5.06	2.88	0.33553	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.135356	0.47455	D	0.000228	T	0.27765	0.0683	M	0.73598	2.24	0.49915	D	0.999837	B;P;P	0.38167	0.345;0.621;0.621	B;B;B	0.41510	0.11;0.359;0.359	T	0.12811	-1.0533	10	0.87932	D	0	.	9.7631	0.40543	0.0:0.7815:0.0:0.2185	.	823;871;880	E7ERW8;E9PEZ2;O60610	.;.;DIAP1_HUMAN	D	877;823;856;871;872;880;881;868	ENSP00000373706:E877D;ENSP00000429282:E823D;ENSP00000381570:E856D;ENSP00000373709:E871D;ENSP00000381572:E872D;ENSP00000381565:E880D;ENSP00000253811:E881D;ENSP00000428268:E868D	ENSP00000253811:E881D	E	-	3	2	DIAPH1	140889390	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.497000	0.35649	1.267000	0.44247	0.650000	0.86243	GAG		0.483	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_005219		G	140909206	C	G	140909206	3	3	800	1	0	0	0	0	1	0	0	0	4520	680	24	4	1214	4	DIAPH1	5	140909206	Missense_Mutation	SNP	C	TCGA-UZ-A9PL-01A-11D-A382-10	3613334	140909206	40006054	30	47677											
SOX4	6659	hgsc.bcm.edu	37	6	21594835	21594835	+	Missense_Mutation	SNP	G	G	T			TCGA-UZ-A9PL-01A-11D-A382-10	TCGA-UZ-A9PL-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fd5fd508-d8c8-4630-9580-0c780b3202e1	6b5fdcae-db39-4f26-a632-d6da690b51ab	g.chr6:21594835G>T	ENST00000244745.1	+	1	864	c.70G>T	c.(70-72)Gcc>Tcc	p.A24S	SOX4_ENST00000543472.1_Missense_Mutation_p.A24S	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	SRY (sex determining region Y)-box 4	24					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)			GGACTCGGGCGCCGGCCTCGA	0.731																																																0													8	10	10					6																	21594835		2161	4225	6386	SO:0001583	missense	6659			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.70G>T	chr6.hg19:g.21594835G>T	ENSP00000244745:p.Ala24Ser			Missense_Mutation	SNP	ENST00000244745.1	hg19	CCDS4547.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.549614	0.45383	.	.	ENSG00000124766	ENST00000244745;ENST00000543472	D;D	0.97906	-4.6;-4.6	5.12	3.32	0.38043	.	0.083581	0.47093	U	0.000254	D	0.90621	0.7059	L	0.55481	1.735	0.37428	D	0.913929	P	0.36974	0.576	B	0.33620	0.167	D	0.86855	0.2026	10	0.12430	T	0.62	.	7.3985	0.26950	0.0808:0.0:0.6231:0.2961	.	24	Q06945	SOX4_HUMAN	S	24	ENSP00000244745:A24S;ENSP00000438412:A24S	ENSP00000244745:A24S	A	+	1	0	SOX4	21702814	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.213000	0.42844	0.536000	0.28733	0.555000	0.69702	GCC		0.731	SOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043301.1	NM_003107		T	21594835	G	T	21594835	3	4	800	1	0	0	0	0	1	0	0	0	14959	1087	38	4	72	4	SOX4	6	21594835	Missense_Mutation	SNP	G	TCGA-UZ-A9PL-01A-11D-A382-10		21594835	149520232	31	47678											
TEAD3	7005	hgsc.bcm.edu	37	6	35443200	35443200	+	Silent	SNP	C	C	T			TCGA-UZ-A9PL-01A-11D-A382-10	TCGA-UZ-A9PL-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fd5fd508-d8c8-4630-9580-0c780b3202e1	6b5fdcae-db39-4f26-a632-d6da690b51ab	g.chr6:35443200C>T	ENST00000402886.3	-	10	1080	c.927G>A	c.(925-927)gaG>gaA	p.E309E	TEAD3_ENST00000338863.7_Silent_p.E369E			Q99594	TEAD3_HUMAN	TEA domain family member 3	369	Transcriptional activation. {ECO:0000255}.				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						TGATCATGTACTCGCACATGG	0.557																																																0													102	99	100					6																	35443200		2203	4300	6503	SO:0001819	synonymous_variant	7005			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.927G>A	chr6.hg19:g.35443200C>T			O95910|Q5BJG7|Q8N6Y4	Silent	SNP	ENST00000402886.3	hg19																																																																																					0.557	TEAD3-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316961.2			T	35443200	C	T	35443200	2	4	800	1	0	0	0	0	0	0	0	1	15745	564	20	2		2	TEAD3	6	35443200	Silent	SNP	C	TCGA-UZ-A9PL-01A-11D-A382-10	13848365	35443200	135671867	32	47679											
TBCC	6903	hgsc.bcm.edu	37	6	42713428	42713428	+	Silent	SNP	G	G	T			TCGA-UZ-A9PL-01A-11D-A382-10	TCGA-UZ-A9PL-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fd5fd508-d8c8-4630-9580-0c780b3202e1	6b5fdcae-db39-4f26-a632-d6da690b51ab	g.chr6:42713428G>T	ENST00000372876.1	-	1	406	c.384C>A	c.(382-384)cgC>cgA	p.R128R	TBCC_ENST00000244625.2_Silent_p.R128R	NM_003192.2	NP_003183	Q15814	TBCC_HUMAN	tubulin folding cofactor C	128					'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)			GCAGCCCCCGGCGCCGCTCGG	0.627																																																0													16	20	19					6																	42713428		2183	4276	6459	SO:0001819	synonymous_variant	6903			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.384C>A	chr6.hg19:g.42713428G>T			Q53Y43|Q5T787	Silent	SNP	ENST00000372876.1	hg19	CCDS4872.1																																																																																				0.627	TBCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040559.1	NM_003192		T	42713428	G	T	42713428	2	4	800	1	0	0	0	0	0	0	0	1	15636	1190	42	4		4	TBCC	6	42713428	Silent	SNP	G	TCGA-UZ-A9PL-01A-11D-A382-10	7270228	42713428	128401639	33	47680											
MAP3K7	6885	hgsc.bcm.edu	37	6	91296573	91296573	+	Silent	SNP	G	G	C			TCGA-UZ-A9PL-01A-11D-A382-10	TCGA-UZ-A9PL-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fd5fd508-d8c8-4630-9580-0c780b3202e1	6b5fdcae-db39-4f26-a632-d6da690b51ab	g.chr6:91296573G>C	ENST00000369329.3	-	1	191	c.30C>G	c.(28-30)tcC>tcG	p.S10S	MAP3K7_ENST00000369327.3_Silent_p.S10S|MAP3K7_ENST00000369332.3_Silent_p.S10S|MAP3K7_ENST00000369325.3_Silent_p.S10S	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	10	Interaction with MAPK8IP1. {ECO:0000250}.|Poly-Ser.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|Fc-epsilon receptor signaling pathway (GO:0038095)|histone H3 acetylation (GO:0043966)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|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 apoptotic signaling pathway (GO:2001234)|negative regulation of ripoptosome assembly involved in necroptotic process (GO:1902443)|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 I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|regulation of reactive oxygen species metabolic process (GO:2000377)|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)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		AAGACGAGGAGGAGGAGGAGG	0.647																																																0													39	39	39					6																	91296573		2203	4300	6503	SO:0001819	synonymous_variant	6885			AB009356	CCDS5027.1, CCDS5028.1, CCDS5029.1, CCDS5030.1	6q15	2011-06-09			ENSG00000135341	ENSG00000135341		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6859	protein-coding gene	gene with protein product		602614		TAK1		9466656	Standard	NM_003188		Approved	MEKK7	uc003pnz.2	O43318	OTTHUMG00000015217	ENST00000369329.3:c.30C>G	chr6.hg19:g.91296573G>C			B2RE27|E1P523|O43317|O43319|Q5TDN2|Q5TDN3|Q5TDT7|Q9NTR3|Q9NZ70	Silent	SNP	ENST00000369329.3	hg19	CCDS5028.1																																																																																				0.647	MAP3K7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041530.1	NM_145331		C	91296573	G	C	91296573	2	2	800	1	0	0	0	0	0	0	0	1	9257	987	35	4		4	MAP3K7	6	91296573	Silent	SNP	G	TCGA-UZ-A9PL-01A-11D-A382-10	48583145	91296573	79818494	34	47681											
AHI1	54806	hgsc.bcm.edu	37	6	135784363	135784363	+	Silent	SNP	A	A	G			TCGA-UZ-A9PL-01A-11D-A382-10	TCGA-UZ-A9PL-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fd5fd508-d8c8-4630-9580-0c780b3202e1	6b5fdcae-db39-4f26-a632-d6da690b51ab	g.chr6:135784363A>G	ENST00000367800.4	-	6	1047	c.831T>C	c.(829-831)caT>caC	p.H277H	AHI1_ENST00000457866.2_Silent_p.H277H|AHI1_ENST00000327035.6_Silent_p.H277H	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	277	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)		CATCATCTTGATGAGAATCTG	0.343																																																0													150	139	143					6																	135784363		1873	4106	5979	SO:0001819	synonymous_variant	54806			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.831T>C	chr6.hg19:g.135784363A>G			E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Silent	SNP	ENST00000367800.4	hg19	CCDS47483.1																																																																																				0.343	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1	NM_017651		G	135784363	A	G	135784363	2	3	800	1	0	0	0	0	0	0	0	1	413	330	12	3		3	AHI1	6	135784363	Silent	SNP	A	TCGA-UZ-A9PL-01A-11D-A382-10	44487790	135784363	35330704	35	47682											
RNF139	83940	hgsc.bcm.edu	37	8	125499771	125499771	+	IGR	SNP	G	G	C			TCGA-UZ-A9PL-01A-11D-A382-10	TCGA-UZ-A9PL-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fd5fd508-d8c8-4630-9580-0c780b3202e1	6b5fdcae-db39-4f26-a632-d6da690b51ab	g.chr8:125499771G>C	ENST00000276692.6	-	0	1018				RNF139_ENST00000303545.3_Missense_Mutation_p.R627S|RP11-158K1.3_ENST00000518639.1_RNA	NM_032026.3	NP_114415.1	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1						DNA catabolic process (GO:0006308)	intracellular organelle (GO:0043229)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			AATCTGACAGGGAATTGAACG	0.393																																																0													93	92	93					8																	125499771		2203	4300	6503	SO:0001628	intergenic_variant	11236			AF212250	CCDS6351.1, CCDS55273.1	8q24.13	2004-06-07			ENSG00000147687	ENSG00000147687			24220	protein-coding gene	gene with protein product						12477932	Standard	NM_032026		Approved	CDA11	uc003yrd.2	Q6P1N9	OTTHUMG00000165068		chr8.hg19:g.125499771G>C			B2R5J0|Q8TD02|Q9BY40	Missense_Mutation	SNP	ENST00000276692.6	hg19	CCDS6351.1	.	.	.	.	.	.	.	.	.	.	G	3.586	-0.084525	0.07097	.	.	ENSG00000170881	ENST00000303545	T	0.22945	1.93	5.64	2.65	0.31530	.	0.522447	0.21142	N	0.079461	T	0.08537	0.0212	N	0.03608	-0.345	0.29212	N	0.874533	B	0.06786	0.001	B	0.04013	0.001	T	0.33523	-0.9865	10	0.09084	T	0.74	-8.8311	5.7273	0.18020	0.1441:0.0965:0.6257:0.1336	.	627	Q8WU17	RN139_HUMAN	S	627	ENSP00000304051:R627S	ENSP00000304051:R627S	R	+	3	2	RNF139	125568952	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	1.109000	0.31135	0.408000	0.25621	-1.134000	0.01955	AGG		0.393	TATDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381655.1	NM_032026		C	125499771	G	C	125499771	1	2	800	0	1	0	0	0	0	0	0	0	13448	1223	43	4		4	RNF139	8	125499771	IGR	SNP	G	TCGA-UZ-A9PL-01A-11D-A382-10		125499771	20864251	36	47683											
C9orf43	257169	hgsc.bcm.edu	37	9	116185621	116185621	+	Silent	SNP	C	C	T			TCGA-UZ-A9PL-01A-11D-A382-10	TCGA-UZ-A9PL-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fd5fd508-d8c8-4630-9580-0c780b3202e1	6b5fdcae-db39-4f26-a632-d6da690b51ab	g.chr9:116185621C>T	ENST00000288462.4	+	7	945	c.499C>T	c.(499-501)Ctg>Ttg	p.L167L	C9orf43_ENST00000374165.1_Silent_p.L167L	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	167										breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						CAAGTCATTTCTGGGTCTCTC	0.453																																																0													80	76	77					9																	116185621		2203	4300	6503	SO:0001819	synonymous_variant	257169			BC026884	CCDS6796.1	9q33.1	2012-03-15			ENSG00000157653	ENSG00000157653			23570	protein-coding gene	gene with protein product						12477932	Standard	NM_152786		Approved	MGC17358	uc004bhp.3	Q8TAL5	OTTHUMG00000020526	ENST00000288462.4:c.499C>T	chr9.hg19:g.116185621C>T				Silent	SNP	ENST00000288462.4	hg19	CCDS6796.1																																																																																				0.453	C9orf43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053739.1	NM_152786		T	116185621	C	T	116185621	2	4	800	1	0	0	0	0	0	0	0	1	2485	912	32	2		2	C9orf43	9	116185621	Silent	SNP	C	TCGA-UZ-A9PL-01A-11D-A382-10		116185621	25027810	37	47684											
TNFSF8	944	hgsc.bcm.edu	37	9	117666251	117666257	+	Frame_Shift_Del	DEL	TCAAGAG	TCAAGAG	-			TCGA-UZ-A9PL-01A-11D-A382-10	TCGA-UZ-A9PL-10A-01D-A385-10	TCAAGAG	TCAAGAG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fd5fd508-d8c8-4630-9580-0c780b3202e1	6b5fdcae-db39-4f26-a632-d6da690b51ab	g.chr9:117666251_117666257delTCAAGAG	ENST00000223795.2	-	4	772_778	c.659_665delCTCTTGA	c.(658-666)cctcttgagfs	p.PLE220fs	TNFSF8_ENST00000474301.1_Intron	NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN	tumor necrosis factor (ligand) superfamily, member 8	220					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						CAACACATTCTCAAGAGGAAAGGTGCT	0.42																																																0																																										SO:0001589	frameshift_variant	944			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.659_665delCTCTTGA	chr9.hg19:g.117666251_117666257delTCAAGAG	ENSP00000223795:p.Pro220fs		O43404	Frame_Shift_Del	DEL	ENST00000223795.2	hg19	CCDS6810.1																																																																																				0.42	TNFSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055464.1			-	117666257	TCAAGAG	-	117666251	7	5	800	1	0	1	0	1	0	0	0	0	16316	1551	54	0	43	0	TNFSF8	9	117666251	Frame_Shift_Del	DEL	TCAAGAG	TCGA-UZ-A9PL-01A-11D-A382-10	1480630	117666251	23547180	38	47685											
SEC16A	9919	hgsc.bcm.edu	37	9	139368591	139368591	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UZ-A9PL-01A-11D-A382-10	TCGA-UZ-A9PL-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fd5fd508-d8c8-4630-9580-0c780b3202e1	6b5fdcae-db39-4f26-a632-d6da690b51ab	g.chr9:139368591G>T	ENST00000371706.3	-	1	2976	c.2943C>A	c.(2941-2943)taC>taA	p.Y981*	SEC16A_ENST00000431893.2_Nonsense_Mutation_p.Y981*|SEC16A_ENST00000290037.6_Nonsense_Mutation_p.Y981*|SEC16A_ENST00000313050.7_Nonsense_Mutation_p.Y1159*			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	981	Poly-Tyr.|Pro-rich.|Required for endoplasmic reticulum localization.				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)		GGTAGTAGTAGTAGGCGGCCA	0.652																																																0													50	57	55					9																	139368591		2034	4181	6215	SO:0001587	stop_gained	9919			AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"KIAA0310"	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.2943C>A	chr9.hg19:g.139368591G>T	ENSP00000360771:p.Tyr981*		A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Nonsense_Mutation	SNP	ENST00000371706.3	hg19		.	.	.	.	.	.	.	.	.	.	G	37	6.605004	0.97701	.	.	ENSG00000148396	ENST00000313050;ENST00000371706;ENST00000290037;ENST00000431893;ENST00000404925;ENST00000398348	.	.	.	5.38	0.014	0.14098	.	0.376195	0.26507	N	0.023987	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	-7.7001	9.9781	0.41797	0.4482:0.0:0.5518:0.0	.	.	.	.	X	1159;981;981;981;549;83	.	ENSP00000290037:Y981X	Y	-	3	2	SEC16A	138488412	1.000000	0.71417	0.941000	0.38009	0.285000	0.27093	1.404000	0.34623	0.026000	0.15269	0.462000	0.41574	TAC		0.652	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459		T	139368591	G	T	139368591	4	4	800	1	0	0	0	0	0	1	0	0	13992	1024	36	4	3716	4	SEC16A	9	139368591	Nonsense_Mutation	SNP	G	TCGA-UZ-A9PL-01A-11D-A382-10	21702340	139368591	1844840	39	47686											
PGBD3	267004	hgsc.bcm.edu	37	10	50723698	50723698	+	Missense_Mutation	SNP	A	A	G			TCGA-UZ-A9PL-01A-11D-A382-10	TCGA-UZ-A9PL-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fd5fd508-d8c8-4630-9580-0c780b3202e1	6b5fdcae-db39-4f26-a632-d6da690b51ab	g.chr10:50723698A>G	ENST00000374127.3	-	2	1664	c.1463T>C	c.(1462-1464)tTg>tCg	p.L488S	ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.L956S|ERCC6_ENST00000355832.5_Intron|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.L956S|PGBD3_ENST00000603152.1_Missense_Mutation_p.L956S|PGBD3_ENST00000508005.2_Missense_Mutation_p.L488S	NM_170753.2	NP_736609.2	Q8N328	PGBD3_HUMAN	piggyBac transposable element derived 3	488										breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(16)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	33						GAAACAGAACAAAAGAGGGCT	0.418																																																0													134	127	130					10																	50723698		2203	4300	6503	SO:0001583	missense	267004			AK074682	CCDS7230.1	10q11	2011-03-24			ENSG00000243251	ENSG00000243251			19400	protein-coding gene	gene with protein product							Standard	NM_170753		Approved	FLJ90201		Q8N328	OTTHUMG00000018193	ENST00000374127.3:c.1463T>C	chr10.hg19:g.50723698A>G	ENSP00000363242:p.Leu488Ser		B3KQC4|Q5W0M0|Q6PIH0	Silent	SNP	ENST00000374127.3	hg19	CCDS7230.1	.	.	.	.	.	.	.	.	.	.	A	9.207	1.029955	0.19512	.	.	ENSG00000243251;ENSG00000243251;ENSG00000258838;ENSG00000258838	ENST00000374127;ENST00000508005;ENST00000515869;ENST00000447839	T;T;T;T	0.17528	2.27;2.27;2.27;2.27	0.706	-1.01	0.10169	.	.	.	.	.	T	0.06188	0.0160	N	0.00621	-1.32	0.19300	N	0.999975	D;P	0.63880	0.993;0.874	P;P	0.51355	0.667;0.663	T	0.17745	-1.0359	8	0.23302	T	0.38	-17.488	.	.	.	.	956;488	E7EV46;Q8N328	.;PGBD3_HUMAN	S	488;488;956;956	ENSP00000363242:L488S;ENSP00000426963:L488S;ENSP00000423550:L956S;ENSP00000387966:L956S	ENSP00000387966:L956S	L	-	2	0	PGBD3;RP11-123B3.6	50393704	0.469000	0.25846	0.276000	0.24689	0.965000	0.64279	-0.098000	0.11024	-0.361000	0.08125	0.402000	0.26972	TTG		0.418	PGBD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047988.1			G	50723698	A	G	50723698	3	3	800	1	0	0	0	0	1	0	0	0	11784	131	5	3	322	3	PGBD3	10	50723698	Missense_Mutation	SNP	A	TCGA-UZ-A9PL-01A-11D-A382-10		50723698	84811049	40	47687											
IFIT2	3433	hgsc.bcm.edu	37	10	91065753	91065753	+	Missense_Mutation	SNP	C	C	T			TCGA-UZ-A9PL-01A-11D-A382-10	TCGA-UZ-A9PL-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fd5fd508-d8c8-4630-9580-0c780b3202e1	6b5fdcae-db39-4f26-a632-d6da690b51ab	g.chr10:91065753C>T	ENST00000371826.3	+	2	209	c.40C>T	c.(40-42)Cgg>Tgg	p.R14W	LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN	interferon-induced protein with tetratricopeptide repeats 2	14					apoptotic mitochondrial changes (GO:0008637)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of protein binding (GO:0032091)|positive regulation of apoptotic process (GO:0043065)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				GAGCAGCCTACGGCAACTAAA	0.408																																																0													87	86	86					10																	91065753		1861	4104	5965	SO:0001583	missense	3433			M14660	CCDS41548.1	10q23.31	2013-01-11			ENSG00000119922	ENSG00000119922		"Tetratricopeptide (TTC) repeat domain containing"	5409	protein-coding gene	gene with protein product		147040		IFI54, G10P2		3175763, 3360121	Standard	NM_001547		Approved	IFI-54, ISG-54K, cig42, GARG-39	uc009xts.3	P09913	OTTHUMG00000018707	ENST00000371826.3:c.40C>T	chr10.hg19:g.91065753C>T	ENSP00000360891:p.Arg14Trp		Q5T767	Missense_Mutation	SNP	ENST00000371826.3	hg19	CCDS41548.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.345071	0.41498	.	.	ENSG00000119922	ENST00000371826	T	0.50001	0.76	4.58	0.669	0.17918	.	0.949995	0.08725	N	0.902872	T	0.28797	0.0714	N	0.21448	0.665	0.09310	N	1	B	0.26445	0.149	B	0.15052	0.012	T	0.23691	-1.0181	10	0.62326	D	0.03	-0.004	3.4206	0.07392	0.1212:0.5514:0.1178:0.2096	.	14	P09913	IFIT2_HUMAN	W	14	ENSP00000360891:R14W	ENSP00000360891:R14W	R	+	1	2	IFIT2	91055733	0.000000	0.05858	0.000000	0.03702	0.945000	0.59286	-0.229000	0.09098	0.133000	0.18654	-0.126000	0.14955	CGG		0.408	IFIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049293.1	NM_001547		T	91065753	C	T	91065753	3	4	800	1	0	0	0	0	1	0	0	0	7525	527	19	1	46	1	IFIT2	10	91065753	Missense_Mutation	SNP	C	TCGA-UZ-A9PL-01A-11D-A382-10	40342055	91065753	44468994	41	47688											
BTRC	8945	hgsc.bcm.edu	37	10	103190124	103190124	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UZ-A9PL-01A-11D-A382-10	TCGA-UZ-A9PL-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fd5fd508-d8c8-4630-9580-0c780b3202e1	6b5fdcae-db39-4f26-a632-d6da690b51ab	g.chr10:103190124G>A	ENST00000370187.3	+	2	189	c.71G>A	c.(70-72)tGg>tAg	p.W24*	BTRC_ENST00000393441.4_Nonsense_Mutation_p.W9*|BTRC_ENST00000408038.2_Intron	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	24					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to organic cyclic compound (GO:0071407)|G2/M transition of mitotic cell cycle (GO:0000086)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		AGGTCTCTGTGGCTGGGCTGC	0.542																																																0													79	75	76					10																	103190124		2203	4300	6503	SO:0001587	stop_gained	8945			Y14153	CCDS7511.1, CCDS7512.1, CCDS73183.1	10q24.32	2013-01-10	2012-02-23		ENSG00000166167	ENSG00000166167		"F-boxes / WD-40 domains", "WD repeat domain containing"	1144	protein-coding gene	gene with protein product		603482	"beta-transducin repeat containing"			9660940, 10331953, 18354483	Standard	NM_033637		Approved	bTrCP, betaTrCP, FBXW1A, Fwd1, beta-TrCP1, bTrCP1	uc001kta.4	Q9Y297	OTTHUMG00000018932	ENST00000370187.3:c.71G>A	chr10.hg19:g.103190124G>A	ENSP00000359206:p.Trp24*		B5MD49|Q5W141|Q5W142|Q9Y213	Nonsense_Mutation	SNP	ENST00000370187.3	hg19	CCDS7512.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.974959	0.92919	.	.	ENSG00000166167	ENST00000370187;ENST00000393441;ENST00000370183	.	.	.	5.72	5.72	0.89469	.	0.082898	0.52532	D	0.000065	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.1493	20.2406	0.98372	0.0:0.0:1.0:0.0	.	.	.	.	X	24;9;6	.	ENSP00000359202:W6X	W	+	2	0	BTRC	103180114	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.098000	0.76974	2.857000	0.98124	0.650000	0.86243	TGG		0.542	BTRC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049936.1	NM_033637		A	103190124	G	A	103190124	4	1	800	1	0	0	0	0	0	1	0	0	1571	1357	47	2	77	2	BTRC	10	103190124	Nonsense_Mutation	SNP	G	TCGA-UZ-A9PL-01A-11D-A382-10	12124371	103190124	32344623	42	47689											
MADD	8567	hgsc.bcm.edu	37	11	47305994	47305994	+	Missense_Mutation	SNP	C	C	A			TCGA-UZ-A9PL-01A-11D-A382-10	TCGA-UZ-A9PL-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fd5fd508-d8c8-4630-9580-0c780b3202e1	6b5fdcae-db39-4f26-a632-d6da690b51ab	g.chr11:47305994C>A	ENST00000311027.5	+	12	2200	c.2035C>A	c.(2035-2037)Cag>Aag	p.Q679K	MADD_ENST00000402799.1_Missense_Mutation_p.Q679K|MADD_ENST00000406482.1_Missense_Mutation_p.Q679K|MADD_ENST00000342922.4_Missense_Mutation_p.Q679K|MADD_ENST00000402192.2_Missense_Mutation_p.Q679K|MADD_ENST00000407859.3_Missense_Mutation_p.Q679K|MADD_ENST00000349238.3_Missense_Mutation_p.Q679K|MADD_ENST00000395336.3_Missense_Mutation_p.Q679K|MADD_ENST00000395344.3_Missense_Mutation_p.Q679K	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)		GCTGCAGAATCAGAAGGAAGC	0.592																																																0													78	83	81					11																	47305994		2201	4298	6499	SO:0001583	missense	8567			AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"DENN/MADD domain containing"	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.2035C>A	chr11.hg19:g.47305994C>A	ENSP00000310933:p.Gln679Lys			Missense_Mutation	SNP	ENST00000311027.5	hg19	CCDS7930.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.993769	0.35131	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192	T;T;T;T;T;T;T;T;T	0.05649	3.56;3.45;3.45;3.56;3.56;3.41;3.45;3.56;3.56	5.96	5.96	0.96718	.	0.918311	0.09568	N	0.784571	T	0.03695	0.0105	N	0.08118	0	0.80722	D	1	B;B;B;B;B;B;B;B;B;B	0.15141	0.005;0.0;0.002;0.0;0.0;0.0;0.001;0.012;0.001;0.001	B;B;B;B;B;B;B;B;B;B	0.17979	0.006;0.0;0.014;0.001;0.001;0.0;0.007;0.02;0.006;0.007	T	0.47018	-0.9149	10	0.12103	T	0.63	-4.7229	7.8312	0.29344	0.0:0.8128:0.0:0.1872	.	679;679;679;679;679;679;679;679;679;679	B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;MADD_HUMAN;.	K	679	ENSP00000343902:Q679K;ENSP00000385585:Q679K;ENSP00000384435:Q679K;ENSP00000304505:Q679K;ENSP00000310933:Q679K;ENSP00000384204:Q679K;ENSP00000378753:Q679K;ENSP00000378745:Q679K;ENSP00000384287:Q679K	ENSP00000310933:Q679K	Q	+	1	0	MADD	47262570	1.000000	0.71417	0.966000	0.40874	0.968000	0.65278	4.541000	0.60670	2.832000	0.97577	0.655000	0.94253	CAG		0.592	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1			A	47305994	C	A	47305994	3	1	800	1	0	0	0	0	1	0	0	0	9154	827	29	4	2077	4	MADD	11	47305994	Missense_Mutation	SNP	C	TCGA-UZ-A9PL-01A-11D-A382-10		47305994	87700522	43	47690											
CCDC83	220047	hgsc.bcm.edu	37	11	85630396	85630397	+	Frame_Shift_Ins	INS	-	-	TG			TCGA-UZ-A9PL-01A-11D-A382-10	TCGA-UZ-A9PL-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fd5fd508-d8c8-4630-9580-0c780b3202e1	6b5fdcae-db39-4f26-a632-d6da690b51ab	g.chr11:85630396_85630397insTG	ENST00000342404.3	+	11	1301_1302	c.1085_1086insTG	c.(1084-1089)tatgtafs	p.YV362fs	CCDC83_ENST00000376067.1_Frame_Shift_Ins_p.YV262fs|CCDC83_ENST00000280245.4_Frame_Shift_Ins_p.YV393fs|RP11-90K17.2_ENST00000531414.1_RNA			Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	362										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				CCATAGGATTATGTAAACTTGG	0.396																																																0																																										SO:0001589	frameshift_variant	220047			AK124113	CCDS8271.1, CCDS66196.1	11q14.1-q14.2	2014-01-21			ENSG00000150676	ENSG00000150676			28535	protein-coding gene	gene with protein product						12477932	Standard	XM_005273842		Approved	MGC34732, FLJ42119, CT148	uc001pbg.1	Q8IWF9	OTTHUMG00000166978	ENST00000342404.3:c.1086_1087dupTG	chr11.hg19:g.85630397_85630398dupTG	ENSP00000344512:p.Tyr362fs		B2RA49|Q6X7T2|Q6ZVT5|Q8N9Y1	Frame_Shift_Ins	INS	ENST00000342404.3	hg19																																																																																					0.396	CCDC83-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392215.1	NM_173556		TG	85630397	-	TG	85630396	7	5	800	1	0	1	1	0	0	0	0	0	2859	449	16	0	1220	0	CCDC83	11	85630396	Frame_Shift_Ins	INS	-	TCGA-UZ-A9PL-01A-11D-A382-10	38324402	85630396	49376120	44	47691											
CACNA2D4	93589	hgsc.bcm.edu	37	12	2027591	2027592	+	Frame_Shift_Ins	INS	-	-	G			TCGA-UZ-A9PL-01A-11D-A382-10	TCGA-UZ-A9PL-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fd5fd508-d8c8-4630-9580-0c780b3202e1	6b5fdcae-db39-4f26-a632-d6da690b51ab	g.chr12:2027591_2027592insG	ENST00000382722.5	-	1	410_411	c.48_49insC	c.(46-51)cccaccfs	p.T17fs	CACNA2D4_ENST00000586184.1_Frame_Shift_Ins_p.T17fs|CACNA2D4_ENST00000585732.1_Frame_Shift_Ins_p.T17fs|RP5-1096D14.3_ENST00000544163.1_RNA|CACNA2D4_ENST00000587995.1_Frame_Shift_Ins_p.T17fs	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	17					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)		GCAGGCATGGTGGGCCTGGGGT	0.644																																					Colon(2;101 179 21030 23310 28141)											0																																										SO:0001589	frameshift_variant	93589			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.49dupC	chr12.hg19:g.2027594_2027594dupG	ENSP00000372169:p.Thr17fs		Q7Z3S8|Q86XZ5|Q8IZS9	Frame_Shift_Ins	INS	ENST00000382722.5	hg19	CCDS44785.1																																																																																				0.644	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2			G	2027592	-	G	2027591	7	5	800	1	0	1	1	0	0	0	0	0	2553	1696	59	0	3516	0	CACNA2D4	12	2027591	Frame_Shift_Ins	INS	-	TCGA-UZ-A9PL-01A-11D-A382-10		2027591	131824304	45	47692											
SLCO1C1	53919	hgsc.bcm.edu	37	12	20854365	20854365	+	Frame_Shift_Del	DEL	G	G	-			TCGA-UZ-A9PL-01A-11D-A382-10	TCGA-UZ-A9PL-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fd5fd508-d8c8-4630-9580-0c780b3202e1	6b5fdcae-db39-4f26-a632-d6da690b51ab	g.chr12:20854365delG	ENST00000266509.2	+	3	611	c.243delG	c.(241-243)gtgfs	p.V81fs	SLCO1C1_ENST00000545102.1_Intron|SLCO1C1_ENST00000540354.1_Frame_Shift_Del_p.V81fs|SLCO1C1_ENST00000381552.1_Frame_Shift_Del_p.V81fs|SLCO1C1_ENST00000545604.1_Frame_Shift_Del_p.V81fs	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	81					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	CTTCACTGGTGGGAGTTATTG	0.408																																																0													160	139	146					12																	20854365		2203	4299	6502	SO:0001589	frameshift_variant	53919			AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"Solute carriers"	13819	protein-coding gene	gene with protein product		613389	"solute carrier family 21 (organic anion transporter), member 14"	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.243delG	chr12.hg19:g.20854365delG	ENSP00000266509:p.Val81fs		B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Frame_Shift_Del	DEL	ENST00000266509.2	hg19	CCDS8683.1																																																																																				0.408	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435		-	20854365	G	-	20854365	7	5	800	1	0	1	0	1	0	0	0	0	14731	1335	47	0	249	0	SLCO1C1	12	20854365	Frame_Shift_Del	DEL	G	TCGA-UZ-A9PL-01A-11D-A382-10	18826774	20854365	112997530	46	47693											
MAP3K12	7786	hgsc.bcm.edu	37	12	53877202	53877202	+	Missense_Mutation	SNP	T	T	C			TCGA-UZ-A9PL-01A-11D-A382-10	TCGA-UZ-A9PL-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fd5fd508-d8c8-4630-9580-0c780b3202e1	6b5fdcae-db39-4f26-a632-d6da690b51ab	g.chr12:53877202T>C	ENST00000267079.2	-	11	1670	c.1445A>G	c.(1444-1446)cAt>cGt	p.H482R	MAP3K12_ENST00000547035.1_Missense_Mutation_p.H515R|MAP3K12_ENST00000547488.1_Missense_Mutation_p.H515R	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	482					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						TGTGTTTCCATGCAGGAGGCC	0.542																																																0													130	128	129					12																	53877202		2203	4300	6503	SO:0001583	missense	7786			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.1445A>G	chr12.hg19:g.53877202T>C	ENSP00000267079:p.His482Arg		B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Missense_Mutation	SNP	ENST00000267079.2	hg19	CCDS8860.1	.	.	.	.	.	.	.	.	.	.	T	14.81	2.646194	0.47258	.	.	ENSG00000139625	ENST00000267079;ENST00000547488;ENST00000547035	T;T;T	0.16897	2.31;2.31;2.31	5.42	5.42	0.78866	.	0.000000	0.47093	D	0.000250	T	0.10252	0.0251	N	0.12746	0.255	0.44946	D	0.997963	B;B	0.19331	0.035;0.02	B;B	0.20577	0.03;0.021	T	0.24154	-1.0168	10	0.18710	T	0.47	.	13.2975	0.60305	0.0:0.0:0.0:1.0	.	515;482	G3V1Y2;Q12852	.;M3K12_HUMAN	R	482;515;515	ENSP00000267079:H482R;ENSP00000449038:H515R;ENSP00000448689:H515R	ENSP00000267079:H482R	H	-	2	0	MAP3K12	52163469	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.040000	0.64191	2.196000	0.70406	0.533000	0.62120	CAT		0.542	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1	NM_006301		C	53877202	T	C	53877202	3	2	800	1	0	0	0	0	1	0	0	0	9248	1464	51	3	1154	3	MAP3K12	12	53877202	Missense_Mutation	SNP	T	TCGA-UZ-A9PL-01A-11D-A382-10	33022837	53877202	79974693	47	47694											
LRIG3	121227	hgsc.bcm.edu	37	12	59282143	59282149	+	Frame_Shift_Del	DEL	ATCAGGG	ATCAGGG	-	rs369199158		TCGA-UZ-A9PL-01A-11D-A382-10	TCGA-UZ-A9PL-10A-01D-A385-10	ATCAGGG	ATCAGGG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fd5fd508-d8c8-4630-9580-0c780b3202e1	6b5fdcae-db39-4f26-a632-d6da690b51ab	g.chr12:59282143_59282149delATCAGGG	ENST00000320743.3	-	7	1195_1201	c.909_915delCCCTGAT	c.(907-915)agccctgatfs	p.SPD303fs	LRIG3_ENST00000379141.4_Frame_Shift_Del_p.SPD243fs	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	303					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)			ACTCCCAGGCATCAGGGCTGATCCTGT	0.488			T	ROS1	NSCLC																																		Dom	yes		12	12q14.1	121227	leucine-rich repeats and immunoglobulin-like domains 3		E	0																																										SO:0001589	frameshift_variant	121227			AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"Immunoglobulin superfamily / I-set domain containing"	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.909_915delCCCTGAT	chr12.hg19:g.59282143_59282149delATCAGGG	ENSP00000326759:p.Ser303fs		Q6UXL7|Q8NC72	Frame_Shift_Del	DEL	ENST00000320743.3	hg19	CCDS8960.1																																																																																				0.488	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377		-	59282149	ATCAGGG	-	59282143	7	5	800	1	0	1	0	1	0	0	0	0	8948	214	8	0	2496	0	LRIG3	12	59282143	Frame_Shift_Del	DEL	ATCAGGG	TCGA-UZ-A9PL-01A-11D-A382-10	5404941	59282143	74569752	48	47695											
C12orf64	283310	hgsc.bcm.edu	37	12	80648329	80648329	+	Missense_Mutation	SNP	T	T	C			TCGA-UZ-A9PL-01A-11D-A382-10	TCGA-UZ-A9PL-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fd5fd508-d8c8-4630-9580-0c780b3202e1	6b5fdcae-db39-4f26-a632-d6da690b51ab	g.chr12:80648329T>C	ENST00000547103.1	+	14	1399	c.1393T>C	c.(1393-1395)Tgc>Cgc	p.C465R	OTOGL_ENST00000458043.2_Missense_Mutation_p.C465R			Q3ZCN5	OTOGL_HUMAN	otogelin-like	465					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						AGTTTGGAACTGCACTGAGCA	0.303																																																0													114	106	109					12																	80648329		1793	4064	5857	SO:0001583	missense	283310			AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"chromosome 12 open reading frame 64"	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.1393T>C	chr12.hg19:g.80648329T>C	ENSP00000447211:p.Cys465Arg		F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	ENST00000547103.1	hg19		.	.	.	.	.	.	.	.	.	.	T	21.9	4.211483	0.79240	.	.	ENSG00000165899	ENST00000547103;ENST00000458043	T;T	0.67345	-0.26;-0.26	5.68	5.68	0.88126	.	.	.	.	.	D	0.88028	0.6327	H	0.97131	3.945	0.80722	D	1	.	.	.	.	.	.	D	0.92025	0.5629	7	0.87932	D	0	.	15.9323	0.79672	0.0:0.0:0.0:1.0	.	.	.	.	R	465	ENSP00000447211:C465R;ENSP00000400895:C465R	ENSP00000400895:C465R	C	+	1	0	OTOGL	79172460	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.552000	0.82192	2.175000	0.68902	0.533000	0.62120	TGC		0.303	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591		C	80648329	T	C	80648329	3	2	800	1	0	0	0	0	1	0	0	0	1709	1580	55	3	1447	3	C12orf64	12	80648329	Missense_Mutation	SNP	T	TCGA-UZ-A9PL-01A-11D-A382-10	21366186	80648329	53203566	49	47696											
KIAA1704	55425	hgsc.bcm.edu	37	13	45594477	45594477	+	Frame_Shift_Del	DEL	G	G	-			TCGA-UZ-A9PL-01A-11D-A382-10	TCGA-UZ-A9PL-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fd5fd508-d8c8-4630-9580-0c780b3202e1	6b5fdcae-db39-4f26-a632-d6da690b51ab	g.chr13:45594477delG	ENST00000379151.4	+	7	821	c.718delG	c.(718-720)gcafs	p.A240fs	RP11-321C24.1_ENST00000437748.2_lincRNA|GPALPP1_ENST00000357537.3_Frame_Shift_Del_p.A70fs|GPALPP1_ENST00000361121.2_Frame_Shift_Del_p.A240fs	NM_018559.2	NP_061029.2	Q8IXQ4	GPAM1_HUMAN	GPALPP motifs containing 1	240																	AACACAAGAAGCAAGGAAGTC	0.294																																																0													92	93	92					13																	45594477		2203	4300	6503	SO:0001589	frameshift_variant	55425			AB051491	CCDS9394.1	13q14.12	2013-08-13	2013-08-12	2013-08-12	ENSG00000133114	ENSG00000133114			20298	protein-coding gene	gene with protein product			"KIAA1704"	KIAA1704		11214970	Standard	NM_018559		Approved	bA245H20.2, AD029, LSR7	uc001uzq.3	Q8IXQ4	OTTHUMG00000016841	ENST00000379151.4:c.718delG	chr13.hg19:g.45594477delG	ENSP00000368447:p.Ala240fs		A8K8X8|Q05BX8|Q05D87|Q5T3Z3|Q5T3Z5|Q9C0F9|Q9H2R0|Q9P0W6	Frame_Shift_Del	DEL	ENST00000379151.4	hg19	CCDS9394.1																																																																																				0.294	GPALPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044749.2	NM_018559		-	45594477	G	-	45594477	7	5	800	1	0	1	0	1	0	0	0	0	8254	971	34	0	744	0	KIAA1704	13	45594477	Frame_Shift_Del	DEL	G	TCGA-UZ-A9PL-01A-11D-A382-10		45594477	69575401	50	47697											
DZIP1	22873	hgsc.bcm.edu	37	13	96242581	96242581	+	Frame_Shift_Del	DEL	C	C	-			TCGA-UZ-A9PL-01A-11D-A382-10	TCGA-UZ-A9PL-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fd5fd508-d8c8-4630-9580-0c780b3202e1	6b5fdcae-db39-4f26-a632-d6da690b51ab	g.chr13:96242581delC	ENST00000376829.2	-	17	2646	c.1795delG	c.(1795-1797)gaafs	p.E599fs	DZIP1_ENST00000361156.3_Frame_Shift_Del_p.E580fs|DZIP1_ENST00000347108.3_Frame_Shift_Del_p.E599fs|DZIP1_ENST00000361396.2_Frame_Shift_Del_p.E580fs	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	599					cilium assembly (GO:0042384)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			ACTTGATGTTCAAGGAATTCT	0.353																																																0													196	176	183					13																	96242581		2203	4300	6503	SO:0001589	frameshift_variant	22873			AB023213	CCDS9477.1, CCDS9478.1	13q32.1	2013-05-22	2013-05-22		ENSG00000134874	ENSG00000134874		"Zinc fingers, C2H2-type"	20908	protein-coding gene	gene with protein product		608671	"DAZ interacting protein 1"				Standard	NM_014934		Approved	KIAA0996, DZIP	uc001vmk.4	Q86YF9	OTTHUMG00000017224	ENST00000376829.2:c.1795delG	chr13.hg19:g.96242581delC	ENSP00000366025:p.Glu599fs		Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Frame_Shift_Del	DEL	ENST00000376829.2	hg19	CCDS9478.1																																																																																				0.353	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045496.3	NM_014934		-	96242581	C	-	96242581	7	5	800	1	0	1	0	1	0	0	0	0	4865	835	29	0	836	0	DZIP1	13	96242581	Frame_Shift_Del	DEL	C	TCGA-UZ-A9PL-01A-11D-A382-10	50648104	96242581	18927297	51	47698											
SYNE2	23224	hgsc.bcm.edu	37	14	64634024	64634024	+	Missense_Mutation	SNP	T	T	A			TCGA-UZ-A9PL-01A-11D-A382-10	TCGA-UZ-A9PL-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fd5fd508-d8c8-4630-9580-0c780b3202e1	6b5fdcae-db39-4f26-a632-d6da690b51ab	g.chr14:64634024T>A	ENST00000344113.4	+	91	16891	c.16679T>A	c.(16678-16680)cTt>cAt	p.L5560H	SYNE2_ENST00000357395.3_Missense_Mutation_p.L1945H|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000358025.3_Missense_Mutation_p.L5560H|SYNE2_ENST00000554584.1_Missense_Mutation_p.L5435H|SYNE2_ENST00000394768.2_Missense_Mutation_p.L1945H|SYNE2_ENST00000555002.1_Missense_Mutation_p.L2194H	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5560					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)		AAGCTCCCACTTAGTGACGTA	0.463																																																0													63	60	61					14																	64634024		2203	4300	6503	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.16679T>A	chr14.hg19:g.64634024T>A	ENSP00000341781:p.Leu5560His		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	hg19	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	T	15.96	2.986805	0.53934	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.70282	0.28;3.56;0.27;-0.47;3.59;3.56	5.78	5.78	0.91487	.	0.000000	0.49916	D	0.000137	T	0.80670	0.4667	L	0.51914	1.62	0.80722	D	1	P;D;B;P	0.89917	0.698;1.0;0.405;0.671	P;D;B;B	0.91635	0.599;0.999;0.172;0.264	T	0.79852	-0.1628	10	0.42905	T	0.14	.	16.3971	0.83610	0.0:0.0:0.0:1.0	.	1945;5435;5560;5560	Q8WXH0-7;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;SYNE2_HUMAN;.	H	5560;1945;5560;5435;5441;2194;1945	ENSP00000350719:L5560H;ENSP00000349969:L1945H;ENSP00000341781:L5560H;ENSP00000452570:L5435H;ENSP00000450831:L2194H;ENSP00000378249:L1945H	ENSP00000261678:L5441H	L	+	2	0	SYNE2	63703777	0.958000	0.32768	0.953000	0.39169	0.505000	0.33919	4.070000	0.57548	2.330000	0.79161	0.533000	0.62120	CTT		0.463	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		A	64634024	T	A	64634024	3	1	800	1	0	0	0	0	1	0	0	0	15451	1609	56	5	17037	5	SYNE2	14	64634024	Missense_Mutation	SNP	T	TCGA-UZ-A9PL-01A-11D-A382-10		64634024	42715516	52	47699											
SPTLC2	9517	hgsc.bcm.edu	37	14	78028818	78028818	+	Silent	SNP	C	C	G			TCGA-UZ-A9PL-01A-11D-A382-10	TCGA-UZ-A9PL-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fd5fd508-d8c8-4630-9580-0c780b3202e1	6b5fdcae-db39-4f26-a632-d6da690b51ab	g.chr14:78028818C>G	ENST00000216484.2	-	6	964	c.771G>C	c.(769-771)ctG>ctC	p.L257L		NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2	257					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)	GTTCATCACTCAGAATCAGGC	0.433																																																0													100	84	89					14																	78028818		2203	4300	6503	SO:0001819	synonymous_variant	9517			AB011098	CCDS9865.1	14q24.3	2014-09-17			ENSG00000100596	ENSG00000100596	2.3.1.50		11278	protein-coding gene	gene with protein product		605713				8921873, 9363775	Standard	NM_004863		Approved	KIAA0526, LCB2, LCB2A, hLCB2a	uc001xub.3	O15270		ENST00000216484.2:c.771G>C	chr14.hg19:g.78028818C>G			Q16685	Silent	SNP	ENST00000216484.2	hg19	CCDS9865.1	.	.	.	.	.	.	.	.	.	.	C	5.462	0.270283	0.10349	.	.	ENSG00000100596	ENST00000554901	.	.	.	5.73	2.89	0.33648	.	.	.	.	.	T	0.57095	0.2030	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49437	-0.8940	4	.	.	.	-12.241	7.7474	0.28877	0.0:0.6152:0.2506:0.1341	.	.	.	.	Q	194	.	.	E	-	1	0	SPTLC2	77098571	0.997000	0.39634	1.000000	0.80357	0.702000	0.40608	0.578000	0.23773	0.430000	0.26230	-0.259000	0.10710	GAG		0.433	SPTLC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414030.1	NM_004863		G	78028818	C	G	78028818	2	3	800	1	0	0	0	0	0	0	0	1	15129	813	29	4		4	SPTLC2	14	78028818	Silent	SNP	C	TCGA-UZ-A9PL-01A-11D-A382-10	13394794	78028818	29320722	53	47700											
FLRT2	23768	hgsc.bcm.edu	37	14	86089469	86089469	+	Frame_Shift_Del	DEL	G	G	-			TCGA-UZ-A9PL-01A-11D-A382-10	TCGA-UZ-A9PL-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fd5fd508-d8c8-4630-9580-0c780b3202e1	6b5fdcae-db39-4f26-a632-d6da690b51ab	g.chr14:86089469delG	ENST00000330753.4	+	2	2378	c.1611delG	c.(1609-1611)atgfs	p.M537fs	FLRT2_ENST00000554746.1_Frame_Shift_Del_p.M537fs	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	537					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|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)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CCCACAGCATGGGCTCCCCCT	0.572																																																0													94	96	96					14																	86089469		2203	4300	6503	SO:0001589	frameshift_variant	23768			AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"Fibronectin type III domain containing"	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1611delG	chr14.hg19:g.86089469delG	ENSP00000332879:p.Met537fs		A0AV84|B7ZLP3	Frame_Shift_Del	DEL	ENST00000330753.4	hg19	CCDS9877.1																																																																																				0.572	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			-	86089469	G	-	86089469	7	5	800	1	0	1	0	1	0	0	0	0	5941	1348	47	0	1613	0	FLRT2	14	86089469	Frame_Shift_Del	DEL	G	TCGA-UZ-A9PL-01A-11D-A382-10	8060651	86089469	21260071	54	47701											
FMN1	342184	hgsc.bcm.edu	37	15	33261121	33261122	+	Frame_Shift_Ins	INS	-	-	G			TCGA-UZ-A9PL-01A-11D-A382-10	TCGA-UZ-A9PL-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fd5fd508-d8c8-4630-9580-0c780b3202e1	6b5fdcae-db39-4f26-a632-d6da690b51ab	g.chr15:33261121_33261122insG	ENST00000559047.1	-	5	2779_2780	c.2780_2781insC	c.(2779-2781)ccafs	p.P927fs	FMN1_ENST00000561249.1_Frame_Shift_Ins_p.P829fs|FMN1_ENST00000334528.9_Frame_Shift_Ins_p.P704fs|SNORD77_ENST00000391113.1_RNA			Q68DA7	FMN1_HUMAN	formin 1	927	FH1.|Pro-rich.				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)		GAAgtgggggtgggggtggggg	0.673																																																0																																										SO:0001589	frameshift_variant	342184			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.2781dupC	chr15.hg19:g.33261126_33261126dupG	ENSP00000454047:p.Pro927fs		Q3B7I6|Q3ZAR4|Q6ZSY1	Frame_Shift_Ins	INS	ENST00000559047.1	hg19																																																																																					0.673	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184		G	33261122	-	G	33261121	7	5	800	1	0	1	1	0	0	0	0	0	5951	1683	59	0	1534	0	FMN1	15	33261121	Frame_Shift_Ins	INS	-	TCGA-UZ-A9PL-01A-11D-A382-10		33261121	69270271	55	47702											
MAPKBP1	23005	hgsc.bcm.edu	37	15	42107832	42107839	+	Frame_Shift_Del	DEL	AAATCATC	AAATCATC	-			TCGA-UZ-A9PL-01A-11D-A382-10	TCGA-UZ-A9PL-10A-01D-A385-10	AAATCATC	AAATCATC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fd5fd508-d8c8-4630-9580-0c780b3202e1	6b5fdcae-db39-4f26-a632-d6da690b51ab	g.chr15:42107832_42107839delAAATCATC	ENST00000456763.2	+	13	1542_1549	c.1346_1353delAAATCATC	c.(1345-1353)aaaatcatcfs	p.KII449fs	MAPKBP1_ENST00000260357.7_Frame_Shift_Del_p.KII282fs|MAPKBP1_ENST00000514566.1_Frame_Shift_Del_p.KII443fs|MAPKBP1_ENST00000221214.6_Frame_Shift_Del_p.KII326fs|MAPKBP1_ENST00000457542.2_Frame_Shift_Del_p.KII443fs	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	449										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)		GACCTCATTAAAATCATCTATGTGGATG	0.548																																																0																																										SO:0001589	frameshift_variant	23005			AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"WD repeat domain containing"	29536	protein-coding gene	gene with protein product			"mitogen activated protein kinase binding protein 1"			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.1346_1353delAAATCATC	chr15.hg19:g.42107832_42107839delAAATCATC	ENSP00000393099:p.Lys449fs		A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Frame_Shift_Del	DEL	ENST00000456763.2	hg19	CCDS45239.1																																																																																				0.548	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994		-	42107839	AAATCATC	-	42107832	7	5	800	1	0	1	0	1	0	0	0	0	9294	14	1	0	1392	0	MAPKBP1	15	42107832	Frame_Shift_Del	DEL	AAATCATC	TCGA-UZ-A9PL-01A-11D-A382-10	8846711	42107832	60423560	56	47703											
SPG11	80208	hgsc.bcm.edu	37	15	44955757	44955757	+	Missense_Mutation	SNP	A	A	G			TCGA-UZ-A9PL-01A-11D-A382-10	TCGA-UZ-A9PL-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fd5fd508-d8c8-4630-9580-0c780b3202e1	6b5fdcae-db39-4f26-a632-d6da690b51ab	g.chr15:44955757A>G	ENST00000261866.7	-	1	105	c.89T>C	c.(88-90)tTg>tCg	p.L30S	SPG11_ENST00000427534.2_Missense_Mutation_p.L30S|SPG11_ENST00000558319.1_Missense_Mutation_p.L30S|SPG11_ENST00000559193.1_Missense_Mutation_p.L30S|SPG11_ENST00000535302.2_Missense_Mutation_p.L30S	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	30					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)		GACTGGCACCAACAGCATCGG	0.736																																																0													6	8	7					15																	44955757		2085	4129	6214	SO:0001583	missense	80208				CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"spatacsin"	610844	"KIAA1840"	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.89T>C	chr15.hg19:g.44955757A>G	ENSP00000261866:p.Leu30Ser		A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	hg19	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	A	17.62	3.434670	0.62955	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	D;T;T	0.83419	-1.72;-1.49;-1.48	5.53	5.53	0.82687	.	0.473484	0.17960	N	0.156202	D	0.89234	0.6657	M	0.64997	1.995	0.39216	D	0.963406	D;D;D;D	0.89917	1.0;0.986;0.986;1.0	D;P;P;D	0.91635	0.989;0.791;0.791;0.999	D	0.90279	0.4313	10	0.87932	D	0	.	12.0478	0.53489	1.0:0.0:0.0:0.0	.	30;30;30;30	C4B7M2;F5H3N6;B9EK60;Q96JI7	.;.;.;SPTCS_HUMAN	S	30	ENSP00000261866:L30S;ENSP00000445278:L30S;ENSP00000396110:L30S	ENSP00000261866:L30S	L	-	2	0	SPG11	42743049	1.000000	0.71417	0.993000	0.49108	0.068000	0.16541	4.217000	0.58547	2.103000	0.63969	0.533000	0.62120	TTG		0.736	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			G	44955757	A	G	44955757	3	3	800	1	0	0	0	0	1	0	0	0	15046	131	5	3	7402	3	SPG11	15	44955757	Missense_Mutation	SNP	A	TCGA-UZ-A9PL-01A-11D-A382-10	2847925	44955757	57575635	57	47704											
ST8SIA2	8128	hgsc.bcm.edu	37	15	92987941	92987941	+	Silent	SNP	G	G	A	rs533826176	byFrequency	TCGA-UZ-A9PL-01A-11D-A382-10	TCGA-UZ-A9PL-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fd5fd508-d8c8-4630-9580-0c780b3202e1	6b5fdcae-db39-4f26-a632-d6da690b51ab	g.chr15:92987941G>A	ENST00000268164.3	+	5	861	c.624G>A	c.(622-624)tcG>tcA	p.S208S	ST8SIA2_ENST00000539113.1_Silent_p.S187S	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	208					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|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)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	early endosome (GO:0005769)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|recycling endosome (GO:0055037)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			TGAACCCCTCGGTCATCCAGC	0.592													G|||	4	0.000798722	0.0	0.0	5008	,	,		18491	0.0		0.0	False		,,,				2504	0.0041															0													67	67	67					15																	92987941		2198	4298	6496	SO:0001819	synonymous_variant	8128			U33551	CCDS10372.1	15q26	2013-03-01	2003-01-14	2005-02-07	ENSG00000140557	ENSG00000140557		"Sialyltransferases"	10870	protein-coding gene	gene with protein product		602546	"sialyltransferase 8 (alpha-2, 8-sialytransferase) B"	SIAT8B		7559389	Standard	NM_006011		Approved	STX, ST8SIA-II, HsT19690	uc002bra.3	Q92186	OTTHUMG00000149843	ENST00000268164.3:c.624G>A	chr15.hg19:g.92987941G>A			Q4VAZ0|Q92470|Q92746	Silent	SNP	ENST00000268164.3	hg19	CCDS10372.1																																																																																				0.592	ST8SIA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313526.1	NM_006011		A	92987941	G	A	92987941	2	1	800	1	0	0	0	0	0	0	0	1	15237	1103	39	1		1	ST8SIA2	15	92987941	Silent	SNP	G	TCGA-UZ-A9PL-01A-11D-A382-10	48032184	92987941	9543451	58	47705											
ACSM2A	123876	hgsc.bcm.edu	37	16	20476871	20476871	+	Missense_Mutation	SNP	G	G	T	rs199594429		TCGA-UZ-A9PL-01A-11D-A382-10	TCGA-UZ-A9PL-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fd5fd508-d8c8-4630-9580-0c780b3202e1	6b5fdcae-db39-4f26-a632-d6da690b51ab	g.chr16:20476871G>T	ENST00000573854.1	+	3	324	c.210G>T	c.(208-210)tgG>tgT	p.W70C	ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000396104.2_Missense_Mutation_p.W70C|ACSM2A_ENST00000575690.1_Missense_Mutation_p.W70C|ACSM2A_ENST00000417235.2_5'UTR|ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000219054.6_Missense_Mutation_p.W70C|ACSM2A_ENST00000424070.1_Missense_Mutation_p.W70C	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	70					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						CAGCCCTGTGGTGGGTGAATG	0.547																																																0													36	37	36					16																	20476871		2203	4298	6501	SO:0001583	missense	123876			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.210G>T	chr16.hg19:g.20476871G>T	ENSP00000459451:p.Trp70Cys		B3KTT9|O75202	Missense_Mutation	SNP	ENST00000573854.1	hg19	CCDS32401.1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.134248	0.37630	.	.	ENSG00000183747	ENST00000219054;ENST00000424070;ENST00000396104	T;T;T	0.40225	1.04;1.04;1.04	3.76	3.76	0.43208	.	0.000000	0.41605	D	0.000844	T	0.59390	0.2190	L	0.60067	1.865	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.63120	-0.6708	10	0.54805	T	0.06	-9.9549	14.7458	0.69490	0.0:0.0:1.0:0.0	.	70	Q08AH3	ACS2A_HUMAN	C	70	ENSP00000219054:W70C;ENSP00000394904:W70C;ENSP00000379411:W70C	ENSP00000219054:W70C	W	+	3	0	ACSM2A	20384372	1.000000	0.71417	1.000000	0.80357	0.103000	0.19146	7.394000	0.79862	1.809000	0.52856	0.298000	0.19748	TGG		0.547	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		T	20476871	G	T	20476871	3	4	800	1	0	0	0	0	1	0	0	0	183	1270	44	4	216	4	ACSM2A	16	20476871	Missense_Mutation	SNP	G	TCGA-UZ-A9PL-01A-11D-A382-10		20476871	69877882	59	47706											
SMPD3	55512	hgsc.bcm.edu	37	16	68405808	68405808	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9PL-01A-11D-A382-10	TCGA-UZ-A9PL-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fd5fd508-d8c8-4630-9580-0c780b3202e1	6b5fdcae-db39-4f26-a632-d6da690b51ab	g.chr16:68405808G>A	ENST00000219334.5	-	3	880	c.277C>T	c.(277-279)Cgg>Tgg	p.R93W	SMPD3_ENST00000566009.1_5'Flank|SMPD3_ENST00000563226.1_Missense_Mutation_p.R93W|SMPD3_ENST00000568373.1_Missense_Mutation_p.R93W	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	93					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)	ATGTAGGGCCGGCGGGCCGAC	0.637																																																0													12	15	14					16																	68405808		2173	4269	6442	SO:0001583	missense	55512			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.277C>T	chr16.hg19:g.68405808G>A	ENSP00000219334:p.Arg93Trp		B7ZL82|Q2M1S8	Missense_Mutation	SNP	ENST00000219334.5	hg19	CCDS10867.1	.	.	.	.	.	.	.	.	.	.	G	18.75	3.690967	0.68271	.	.	ENSG00000103056	ENST00000219334	T	0.58797	0.31	5.3	-0.865	0.10662	.	0.152827	0.56097	D	0.000027	T	0.47395	0.1443	L	0.57536	1.79	0.37982	D	0.933636	B;B;B	0.22541	0.071;0.071;0.071	B;B;B	0.14578	0.011;0.011;0.011	T	0.46162	-0.9211	10	0.87932	D	0	-24.3484	8.4591	0.32917	0.0792:0.0:0.2842:0.6365	.	93;93;93	B7ZL82;B7ZL84;Q9NY59	.;.;NSMA2_HUMAN	W	93	ENSP00000219334:R93W	ENSP00000219334:R93W	R	-	1	2	SMPD3	66963309	0.998000	0.40836	0.987000	0.45799	0.938000	0.57974	0.321000	0.19558	0.011000	0.14865	0.655000	0.94253	CGG		0.637	SMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268895.3	NM_018667		A	68405808	G	A	68405808	3	1	800	1	0	0	0	0	1	0	0	0	14812	1115	39	1	1718	1	SMPD3	16	68405808	Missense_Mutation	SNP	G	TCGA-UZ-A9PL-01A-11D-A382-10	47928937	68405808	21948945	60	47707											
GLG1	2734	hgsc.bcm.edu	37	16	74505131	74505131	+	Silent	SNP	C	C	T			TCGA-UZ-A9PL-01A-11D-A382-10	TCGA-UZ-A9PL-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fd5fd508-d8c8-4630-9580-0c780b3202e1	6b5fdcae-db39-4f26-a632-d6da690b51ab	g.chr16:74505131C>T	ENST00000422840.2	-	15	2168	c.2169G>A	c.(2167-2169)caG>caA	p.Q723Q	GLG1_ENST00000447066.2_Silent_p.Q712Q|GLG1_ENST00000205061.5_Silent_p.Q723Q	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	723					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						GGTGTTTGTTCTGTATCAGAC	0.483																																																0													363	306	325					16																	74505131		2198	4300	6498	SO:0001819	synonymous_variant	2734				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.2169G>A	chr16.hg19:g.74505131C>T			B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Silent	SNP	ENST00000422840.2	hg19	CCDS45527.1																																																																																				0.483	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435750.1	NM_012201		T	74505131	C	T	74505131	2	4	800	1	0	0	0	0	0	0	0	1	6438	912	32	2		2	GLG1	16	74505131	Silent	SNP	C	TCGA-UZ-A9PL-01A-11D-A382-10	6099323	74505131	15849622	61	47708											
KRT10	3858	hgsc.bcm.edu	37	17	38975316	38975316	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9PL-01A-11D-A382-10	TCGA-UZ-A9PL-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fd5fd508-d8c8-4630-9580-0c780b3202e1	6b5fdcae-db39-4f26-a632-d6da690b51ab	g.chr17:38975316G>A	ENST00000269576.5	-	7	1480	c.1471C>T	c.(1471-1473)Cac>Tac	p.H491Y	TMEM99_ENST00000301665.3_5'Flank	NM_000421.3	NP_000412	P13645	K1C10_HUMAN	keratin 10	491	Gly-rich.|Ser-rich.|Tail.			Missing (in Ref. 1; AAA60544). {ECO:0000305}.	cellular response to calcium ion (GO:0071277)|keratinocyte differentiation (GO:0030216)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of epidermis (GO:0030280)			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				ctgccgccgtggccgccgccg	0.801																																																0													1	1	1					17																	38975316		219	517	736	SO:0001583	missense	3858			J04029	CCDS11377.1	17q21.2	2013-06-20	2008-08-01		ENSG00000186395	ENSG00000186395		"-", "Intermediate filaments type I, keratins (acidic)"	6413	protein-coding gene	gene with protein product	"cytokeratin 10", "epidermolytic hyperkeratosis"	148080	"keratosis palmaris et plantaris"	KPP		2461420, 16831889	Standard	NM_000421		Approved	K10, CK10	uc002hvi.3	P13645	OTTHUMG00000133368	ENST00000269576.5:c.1471C>T	chr17.hg19:g.38975316G>A	ENSP00000269576:p.His491Tyr		Q14664|Q8N175	Missense_Mutation	SNP	ENST00000269576.5	hg19	CCDS11377.1	.	.	.	.	.	.	.	.	.	.	g	15.09	2.731363	0.48939	.	.	ENSG00000186395	ENST00000269576	D	0.83591	-1.74	5.21	-9.23	0.00672	.	2.489830	0.01848	N	0.035767	T	0.64724	0.2624	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.59397	-0.7462	10	0.45353	T	0.12	.	9.3977	0.38412	0.3538:0.2897:0.3564:0.0	.	491	P13645	K1C10_HUMAN	Y	491	ENSP00000269576:H491Y	ENSP00000269576:H491Y	H	-	1	0	KRT10	36228842	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-4.792000	0.00185	-2.762000	0.00369	-2.316000	0.00254	CAC		0.801	KRT10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257875.1	NM_000421		A	38975316	G	A	38975316	3	1	800	1	0	0	0	0	1	0	0	0	8450	1348	47	2	291	2	KRT10	17	38975316	Missense_Mutation	SNP	G	TCGA-UZ-A9PL-01A-11D-A382-10		38975316	42219894	62	47709	512	2									
KRT10	3858	hgsc.bcm.edu	37	17	38975319	38975319	+	Missense_Mutation	SNP	C	C	T			TCGA-UZ-A9PL-01A-11D-A382-10	TCGA-UZ-A9PL-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fd5fd508-d8c8-4630-9580-0c780b3202e1	6b5fdcae-db39-4f26-a632-d6da690b51ab	g.chr17:38975319C>T	ENST00000269576.5	-	7	1477	c.1468G>A	c.(1468-1470)Ggc>Agc	p.G490S	TMEM99_ENST00000301665.3_5'Flank	NM_000421.3	NP_000412	P13645	K1C10_HUMAN	keratin 10	490	Gly-rich.|Ser-rich.|Tail.			Missing (in Ref. 8; AAA59199). {ECO:0000305}.	cellular response to calcium ion (GO:0071277)|keratinocyte differentiation (GO:0030216)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of epidermis (GO:0030280)			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				ccgccgtggccgccgccgtgg	0.791																																																0																																										SO:0001583	missense	3858			J04029	CCDS11377.1	17q21.2	2013-06-20	2008-08-01		ENSG00000186395	ENSG00000186395		"-", "Intermediate filaments type I, keratins (acidic)"	6413	protein-coding gene	gene with protein product	"cytokeratin 10", "epidermolytic hyperkeratosis"	148080	"keratosis palmaris et plantaris"	KPP		2461420, 16831889	Standard	NM_000421		Approved	K10, CK10	uc002hvi.3	P13645	OTTHUMG00000133368	ENST00000269576.5:c.1468G>A	chr17.hg19:g.38975319C>T	ENSP00000269576:p.Gly490Ser		Q14664|Q8N175	Missense_Mutation	SNP	ENST00000269576.5	hg19	CCDS11377.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.546565	0.86022	.	.	ENSG00000186395	ENST00000269576	D	0.96587	-4.06	4.38	4.38	0.52667	.	0.845686	0.09879	N	0.743932	D	0.94778	0.8314	N	0.08118	0	0.27860	N	0.940431	D	0.89917	1.0	D	0.76071	0.987	D	0.87790	0.2618	10	0.18710	T	0.47	.	12.7512	0.57310	0.0:1.0:0.0:0.0	.	490	P13645	K1C10_HUMAN	S	490	ENSP00000269576:G490S	ENSP00000269576:G490S	G	-	1	0	KRT10	36228845	0.019000	0.18553	0.876000	0.34364	0.184000	0.23303	0.448000	0.21726	2.739000	0.93911	0.603000	0.83216	GGC		0.791	KRT10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257875.1	NM_000421		T	38975319	C	T	38975319	3	4	800	1	0	0	0	0	1	0	0	0	8450	652	23	1	294	1	KRT10	17	38975319	Missense_Mutation	SNP	C	TCGA-UZ-A9PL-01A-11D-A382-10	3	38975319	42219891	63	47710	512	2									
ACSF2	80221	hgsc.bcm.edu	37	17	48538115	48538115	+	Missense_Mutation	SNP	T	T	G			TCGA-UZ-A9PL-01A-11D-A382-10	TCGA-UZ-A9PL-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fd5fd508-d8c8-4630-9580-0c780b3202e1	6b5fdcae-db39-4f26-a632-d6da690b51ab	g.chr17:48538115T>G	ENST00000300441.4	+	2	310	c.206T>G	c.(205-207)cTt>cGt	p.L69R	ACSF2_ENST00000427954.2_Missense_Mutation_p.L94R|ACSF2_ENST00000502667.1_Missense_Mutation_p.L69R|ACSF2_ENST00000504392.1_Missense_Mutation_p.L69R|ACSF2_ENST00000541920.1_Intron	NM_025149.4	NP_079425.3	Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2	69					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ligase activity (GO:0016874)			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			AAAAAGCATCTTAACAGCAAG	0.572																																																0													112	89	97					17																	48538115		2203	4300	6503	SO:0001583	missense	80221			AK024573, BC012053	CCDS11567.1, CCDS74103.1, CCDS74104.1, CCDS74105.1	17q21.33	2007-10-17			ENSG00000167107	ENSG00000167107		"Acyl-CoA synthetase family"	26101	protein-coding gene	gene with protein product		610465				17762044	Standard	NM_001288968		Approved	FLJ20920, ACSMW	uc002iqu.2	Q96CM8	OTTHUMG00000162128	ENST00000300441.4:c.206T>G	chr17.hg19:g.48538115T>G	ENSP00000300441:p.Leu69Arg		B4DFQ6|B4DHT5|B4DUF5|Q9H7G2	Missense_Mutation	SNP	ENST00000300441.4	hg19	CCDS11567.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.437471	0.83885	.	.	ENSG00000167107	ENST00000300441;ENST00000506582;ENST00000504392;ENST00000427954;ENST00000502667	T;T;T;T;T	0.50813	0.73;2.72;0.73;1.01;0.73	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.74711	0.3752	M	0.89534	3.04	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;0.996;0.994;0.998	T	0.80578	-0.1320	10	0.72032	D	0.01	-11.7183	15.7252	0.77751	0.0:0.0:0.0:1.0	.	69;94;69;69	B4DHT5;B4DFQ6;E9PF16;Q96CM8	.;.;.;ACSF2_HUMAN	R	69;69;69;94;69	ENSP00000300441:L69R;ENSP00000424842:L69R;ENSP00000425964:L69R;ENSP00000401831:L94R;ENSP00000421884:L69R	ENSP00000300441:L69R	L	+	2	0	ACSF2	45893114	1.000000	0.71417	0.089000	0.20774	0.006000	0.05464	6.840000	0.75369	2.191000	0.70037	0.533000	0.62120	CTT		0.572	ACSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367423.3	NM_025149		G	48538115	T	G	48538115	3	3	800	1	0	0	0	0	1	0	0	0	175	1609	56	5	212	5	ACSF2	17	48538115	Missense_Mutation	SNP	T	TCGA-UZ-A9PL-01A-11D-A382-10	9562796	48538115	32657095	64	47711											
CNDP2	55748	hgsc.bcm.edu	37	18	72180835	72180835	+	Missense_Mutation	SNP	A	A	G			TCGA-UZ-A9PL-01A-11D-A382-10	TCGA-UZ-A9PL-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fd5fd508-d8c8-4630-9580-0c780b3202e1	6b5fdcae-db39-4f26-a632-d6da690b51ab	g.chr18:72180835A>G	ENST00000324262.4	+	8	1100	c.784A>G	c.(784-786)Att>Gtt	p.I262V	CNDP2_ENST00000324301.8_Missense_Mutation_p.I178V|CNDP2_ENST00000579847.1_Missense_Mutation_p.I262V	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	262					cellular nitrogen compound metabolic process (GO:0034641)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		GATCCCCGGCATTAACGAGGC	0.602																																																0													65	55	59					18																	72180835		2203	4300	6503	SO:0001583	missense	55748			AK001692	CCDS12006.1, CCDS54190.1	18q22.3	2014-07-14	2004-07-12		ENSG00000133313	ENSG00000133313	3.4.13.18		24437	protein-coding gene	gene with protein product	"cytosolic nonspecific dipeptidase"	169800	"peptidase A"	PEPA		12473676	Standard	NM_018235		Approved	FLJ10830, CN2, HsT2298, CPGL	uc002llm.2	Q96KP4	OTTHUMG00000132853	ENST00000324262.4:c.784A>G	chr18.hg19:g.72180835A>G	ENSP00000325548:p.Ile262Val		B3KUG4|Q8WY59|Q9BQ94|Q9NVB4	Missense_Mutation	SNP	ENST00000324262.4	hg19	CCDS12006.1	.	.	.	.	.	.	.	.	.	.	A	14.11	2.439001	0.43326	.	.	ENSG00000133313	ENST00000324262;ENST00000324301	T	0.18016	2.24	5.74	4.56	0.56223	Peptidase M20, dimerisation (1);	0.087910	0.85682	N	0.000000	T	0.12944	0.0314	L	0.31526	0.94	0.58432	D	0.999998	B;B	0.15930	0.001;0.015	B;B	0.26517	0.017;0.07	T	0.10776	-1.0615	10	0.26408	T	0.33	-0.029	8.8536	0.35214	0.8049:0.1279:0.0671:0.0	.	178;262	Q96KP4-2;Q96KP4	.;CNDP2_HUMAN	V	262;178	ENSP00000325548:I262V	ENSP00000325548:I262V	I	+	1	0	CNDP2	70331815	1.000000	0.71417	0.973000	0.42090	0.801000	0.45260	5.174000	0.65015	0.970000	0.38263	0.533000	0.62120	ATT		0.602	CNDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256327.1	NM_018235		G	72180835	A	G	72180835	3	3	800	1	0	0	0	0	1	0	0	0	3596	217	8	3	810	3	CNDP2	18	72180835	Missense_Mutation	SNP	A	TCGA-UZ-A9PL-01A-11D-A382-10		72180835	5896413	65	47712											
ZNF556	80032	hgsc.bcm.edu	37	19	2877876	2877876	+	Missense_Mutation	SNP	G	G	C			TCGA-UZ-A9PL-01A-11D-A382-10	TCGA-UZ-A9PL-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fd5fd508-d8c8-4630-9580-0c780b3202e1	6b5fdcae-db39-4f26-a632-d6da690b51ab	g.chr19:2877876G>C	ENST00000307635.2	+	4	1007	c.920G>C	c.(919-921)aGa>aCa	p.R307T	ZNF556_ENST00000586426.1_Missense_Mutation_p.R306T	NM_024967.1	NP_079243.1	Q9HAH1	ZN556_HUMAN	zinc finger protein 556	307					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				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)		CGACACGTGAGAATTCACAAC	0.502																																																0													56	54	55					19																	2877876		2203	4300	6503	SO:0001583	missense	80032			BC009374	CCDS12097.1, CCDS74254.1	19p13.3	2013-09-20			ENSG00000172000	ENSG00000172000		"Zinc fingers, C2H2-type", "-"	25669	protein-coding gene	gene with protein product						12477932	Standard	XM_005259647		Approved	FLJ11637	uc002lwp.1	Q9HAH1	OTTHUMG00000180501	ENST00000307635.2:c.920G>C	chr19.hg19:g.2877876G>C	ENSP00000302603:p.Arg307Thr		Q96GM3	Missense_Mutation	SNP	ENST00000307635.2	hg19	CCDS12097.1	.	.	.	.	.	.	.	.	.	.	G	11.03	1.519533	0.27211	.	.	ENSG00000172000	ENST00000307635	T	0.25414	1.8	2.3	1.18	0.20946	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.25606	0.0623	M	0.62723	1.935	0.22096	N	0.999363	P	0.41624	0.757	B	0.40565	0.333	T	0.13124	-1.0521	9	0.66056	D	0.02	.	6.4298	0.21790	0.0:0.3097:0.6903:0.0	.	307	Q9HAH1	ZN556_HUMAN	T	307	ENSP00000302603:R307T	ENSP00000302603:R307T	R	+	2	0	ZNF556	2828876	0.000000	0.05858	0.002000	0.10522	0.155000	0.21991	0.438000	0.21559	0.137000	0.18759	0.407000	0.27541	AGA		0.502	ZNF556-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451638.2	NM_024967		C	2877876	G	C	2877876	3	2	800	1	0	0	0	0	1	0	0	0	17992	942	33	4	934	4	ZNF556	19	2877876	Missense_Mutation	SNP	G	TCGA-UZ-A9PL-01A-11D-A382-10		2877876	56251107	66	47713											
TMEM145	284339	hgsc.bcm.edu	37	19	42817621	42817621	+	Silent	SNP	C	C	T			TCGA-UZ-A9PL-01A-11D-A382-10	TCGA-UZ-A9PL-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fd5fd508-d8c8-4630-9580-0c780b3202e1	6b5fdcae-db39-4f26-a632-d6da690b51ab	g.chr19:42817621C>T	ENST00000301204.3	+	1	134	c.93C>T	c.(91-93)taC>taT	p.Y31Y	TMEM145_ENST00000598766.1_Silent_p.Y31Y	NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	31					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				GGGCCAAGTACGTGCGGGGCA	0.766																																																0													3	4	4					19																	42817621		1445	2532	3977	SO:0001819	synonymous_variant	284339			AK075286	CCDS12603.1	19q13.2	2008-02-05				ENSG00000167619			26912	protein-coding gene	gene with protein product							Standard	NM_173633		Approved	FLJ90805	uc002otk.1	Q8NBT3		ENST00000301204.3:c.93C>T	chr19.hg19:g.42817621C>T				Silent	SNP	ENST00000301204.3	hg19	CCDS12603.1																																																																																				0.766	TMEM145-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463737.1	NM_173633		T	42817621	C	T	42817621	2	4	800	1	0	0	0	0	0	0	0	1	16064	547	19	1		1	TMEM145	19	42817621	Silent	SNP	C	TCGA-UZ-A9PL-01A-11D-A382-10	39939745	42817621	16311362	67	47714											
PPP1R13L	10848	hgsc.bcm.edu	37	19	45889399	45889399	+	Missense_Mutation	SNP	T	T	C			TCGA-UZ-A9PL-01A-11D-A382-10	TCGA-UZ-A9PL-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fd5fd508-d8c8-4630-9580-0c780b3202e1	6b5fdcae-db39-4f26-a632-d6da690b51ab	g.chr19:45889399T>C	ENST00000418234.2	-	9	1933	c.1855A>G	c.(1855-1857)Aag>Gag	p.K619E	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.K619E	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	619					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)		CGGCGGGCCTTGCGCGGGGAG	0.677																																					Pancreas(61;1447 1663 31419 50578)											0													6	8	7					19																	45889399		2156	4212	6368	SO:0001583	missense	10848			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.1855A>G	chr19.hg19:g.45889399T>C	ENSP00000403902:p.Lys619Glu		Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290	Missense_Mutation	SNP	ENST00000418234.2	hg19	CCDS33050.1	.	.	.	.	.	.	.	.	.	.	T	16.38	3.106921	0.56291	.	.	ENSG00000104881	ENST00000418234;ENST00000360957;ENST00000221478	T;T	0.57752	0.38;0.38	4.99	4.99	0.66335	Src homology-3 domain (1);	0.103779	0.64402	D	0.000004	T	0.34250	0.0891	N	0.24115	0.695	0.38248	D	0.941515	P;P	0.48407	0.91;0.769	B;B	0.37015	0.239;0.094	T	0.29458	-1.0011	10	0.25106	T	0.35	.	12.6956	0.57001	0.0:0.0:0.0:1.0	.	619;198	Q8WUF5;A7YME7	IASPP_HUMAN;.	E	619;619;193	ENSP00000403902:K619E;ENSP00000354218:K619E	ENSP00000221478:K193E	K	-	1	0	PPP1R13L	50581239	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.812000	0.38952	2.102000	0.63906	0.459000	0.35465	AAG		0.677	PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457586.1	NM_006663		C	45889399	T	C	45889399	3	2	800	1	0	0	0	0	1	0	0	0	12363	1821	63	3	651	3	PPP1R13L	19	45889399	Missense_Mutation	SNP	T	TCGA-UZ-A9PL-01A-11D-A382-10	3071778	45889399	13239584	68	47715											
CHD6	84181	hgsc.bcm.edu	37	20	40086018	40086018	+	Nonsense_Mutation	SNP	A	A	T			TCGA-UZ-A9PL-01A-11D-A382-10	TCGA-UZ-A9PL-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fd5fd508-d8c8-4630-9580-0c780b3202e1	6b5fdcae-db39-4f26-a632-d6da690b51ab	g.chr20:40086018A>T	ENST00000373233.3	-	18	2892	c.2715T>A	c.(2713-2715)taT>taA	p.Y905*	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	905	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)				TGATGAGGCGATACACCTTCA	0.527																																																0													144	110	121					20																	40086018		2203	4300	6503	SO:0001587	stop_gained	84181			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.2715T>A	chr20.hg19:g.40086018A>T	ENSP00000362330:p.Tyr905*		Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Nonsense_Mutation	SNP	ENST00000373233.3	hg19	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	A	42	9.300881	0.99130	.	.	ENSG00000124177	ENST00000373233	.	.	.	5.42	3.18	0.36537	.	0.000000	0.51477	D	0.000085	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.8164	9.2947	0.37808	0.8543:0.0:0.1457:0.0	.	.	.	.	X	905	.	ENSP00000362330:Y905X	Y	-	3	2	CHD6	39519432	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.745000	0.38278	1.011000	0.39340	0.482000	0.46254	TAT		0.527	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			T	40086018	A	T	40086018	4	4	800	1	0	0	0	0	0	1	0	0	3331	340	12	5	5512	5	CHD6	20	40086018	Nonsense_Mutation	SNP	A	TCGA-UZ-A9PL-01A-11D-A382-10		40086018	22939502	69	47716											
PTK6	5753	hgsc.bcm.edu	37	20	62168498	62168499	+	Frame_Shift_Ins	INS	-	-	C			TCGA-UZ-A9PL-01A-11D-A382-10	TCGA-UZ-A9PL-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fd5fd508-d8c8-4630-9580-0c780b3202e1	6b5fdcae-db39-4f26-a632-d6da690b51ab	g.chr20:62168498_62168499insC	ENST00000217185.2	-	1	196_197	c.169_170insG	c.(169-171)gtgfs	p.V57fs	PTK6_ENST00000542869.1_5'UTR	NM_005975.3	NP_005966.1	Q13882	PTK6_HUMAN	protein tyrosine kinase 6	57	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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)	GCCCTGGGCCACGGCCCCACCC	0.688																																																0																																										SO:0001589	frameshift_variant	5753			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.170dupG	chr20.hg19:g.62168499_62168499dupC	ENSP00000217185:p.Val57fs		B2RCR3|B4DW46|Q58F01	Frame_Shift_Ins	INS	ENST00000217185.2	hg19	CCDS13524.1																																																																																				0.688	PTK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080313.1			C	62168499	-	C	62168498	7	5	800	1	0	1	1	0	0	0	0	0	12770	159	6	0	1217	0	PTK6	20	62168498	Frame_Shift_Ins	INS	-	TCGA-UZ-A9PL-01A-11D-A382-10	22082480	62168498	857022	70	47717											
ADAMTS1	9510	hgsc.bcm.edu	37	21	28217050	28217050	+	Missense_Mutation	SNP	C	C	T			TCGA-UZ-A9PL-01A-11D-A382-10	TCGA-UZ-A9PL-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fd5fd508-d8c8-4630-9580-0c780b3202e1	6b5fdcae-db39-4f26-a632-d6da690b51ab	g.chr21:28217050C>T	ENST00000284984.3	-	1	678	c.224G>A	c.(223-225)cGc>cAc	p.R75H		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	75					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)		CAGGCGGAGGCGCGTGGTCCC	0.706											OREG0026151	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													7	9	9					21																	28217050		2179	4262	6441	SO:0001583	missense	9510			AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"ADAM metallopeptidases with thrombospondin type 1 motif"	217	protein-coding gene	gene with protein product		605174	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.224G>A	chr21.hg19:g.28217050C>T	ENSP00000284984:p.Arg75His	800	D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Missense_Mutation	SNP	ENST00000284984.3	hg19	CCDS33524.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.625463	0.28889	.	.	ENSG00000154734	ENST00000284984	T	0.05786	3.39	4.06	-1.13	0.09775	Peptidase M12B, propeptide (1);	.	.	.	.	T	0.02193	0.0068	N	0.03324	-0.35	0.39418	D	0.966863	B	0.11235	0.004	B	0.09377	0.004	T	0.48896	-0.8994	9	0.09338	T	0.73	.	7.6505	0.28346	0.4991:0.4049:0.0:0.096	.	75	Q9UHI8	ATS1_HUMAN	H	75	ENSP00000284984:R75H	ENSP00000284984:R75H	R	-	2	0	ADAMTS1	27138921	0.366000	0.25014	0.967000	0.41034	0.769000	0.43574	0.373000	0.20484	-0.033000	0.13736	-0.410000	0.06199	CGC		0.706	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171650.2			T	28217050	C	T	28217050	3	4	800	1	0	0	0	0	1	0	0	0	255	768	27	1	2715	1	ADAMTS1	21	28217050	Missense_Mutation	SNP	C	TCGA-UZ-A9PL-01A-11D-A382-10		28217050	19912845	71	47718											
CECR6	27439	hgsc.bcm.edu	37	22	17600499	17600499	+	Missense_Mutation	SNP	G	G	T			TCGA-UZ-A9PL-01A-11D-A382-10	TCGA-UZ-A9PL-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fd5fd508-d8c8-4630-9580-0c780b3202e1	6b5fdcae-db39-4f26-a632-d6da690b51ab	g.chr22:17600499G>T	ENST00000331437.3	-	1	1644	c.1519C>A	c.(1519-1521)Ctc>Atc	p.L507I	AC006946.15_ENST00000441544.1_5'Flank|CECR6_ENST00000399875.1_Missense_Mutation_p.L152I	NM_031890.3	NP_114096.1	Q9BXQ6	CECR6_HUMAN	cat eye syndrome chromosome region, candidate 6	507										haematopoietic_and_lymphoid_tissue(1)	1		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.221)		CGGCAGCCGAGGAAGAAGAGG	0.706																																																0													4	5	5					22																	17600499		2090	4119	6209	SO:0001583	missense	27439			AF307451	CCDS13740.1, CCDS54494.1	22q11.2	2008-06-12			ENSG00000183307	ENSG00000183307			1844	protein-coding gene	gene with protein product						11381032	Standard	NM_031890		Approved		uc002zmb.2	Q9BXQ6	OTTHUMG00000030471	ENST00000331437.3:c.1519C>A	chr22.hg19:g.17600499G>T	ENSP00000329318:p.Leu507Ile		A8MYY1	Missense_Mutation	SNP	ENST00000331437.3	hg19	CCDS13740.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.291089	0.40494	.	.	ENSG00000183307	ENST00000399875;ENST00000331437	.	.	.	4.63	4.63	0.57726	.	0.559654	0.15368	U	0.266033	T	0.41396	0.1157	L	0.29908	0.895	0.31742	N	0.635717	D	0.59767	0.986	P	0.53593	0.73	T	0.30851	-0.9964	9	0.22109	T	0.4	.	12.0274	0.53380	0.0:0.0:0.8275:0.1725	.	507	Q9BXQ6	CECR6_HUMAN	I	152;507	.	ENSP00000329318:L507I	L	-	1	0	CECR6	15980499	1.000000	0.71417	0.997000	0.53966	0.704000	0.40688	3.107000	0.50329	2.290000	0.77057	0.561000	0.74099	CTC		0.706	CECR6-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075359.4	NM_031890		T	17600499	G	T	17600499	3	4	800	1	0	0	0	0	1	0	0	0	3210	1000	35	4	221	4	CECR6	22	17600499	Missense_Mutation	SNP	G	TCGA-UZ-A9PL-01A-11D-A382-10		17600499	33704067	72	47719											
AR	367	hgsc.bcm.edu	37	X	66765229	66765229	+	Missense_Mutation	SNP	G	G	C			TCGA-UZ-A9PL-01A-11D-A382-10	TCGA-UZ-A9PL-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fd5fd508-d8c8-4630-9580-0c780b3202e1	6b5fdcae-db39-4f26-a632-d6da690b51ab	g.chrX:66765229G>C	ENST00000374690.3	+	1	765	c.241G>C	c.(241-243)Gag>Cag	p.E81Q	AR_ENST00000396044.3_Missense_Mutation_p.E81Q|AR_ENST00000504326.1_Missense_Mutation_p.E81Q|AR_ENST00000513847.1_3'UTR	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	79	Gln-rich.|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)	gcagcagcaagagactagccc	0.642									Androgen Insensitivity Syndrome																																							0													11	10	10					X																	66765229		2156	4212	6368	SO:0001583	missense	367	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"Nuclear hormone receptors"	644	protein-coding gene	gene with protein product	"testicular feminization", "Kennedy disease"	313700	"dihydrotestosterone receptor", "spinal and bulbar muscular atrophy"	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.241G>C	chrX.hg19:g.66765229G>C	ENSP00000363822:p.Glu81Gln		A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	ENST00000374690.3	hg19	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	N	0.251	-1.006630	0.02112	.	.	ENSG00000169083	ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	T;T;T	0.71934	-0.61;-0.61;-0.61	5.2	-5.32	0.02722	.	.	.	.	.	T	0.50120	0.1597	N	0.05280	-0.08	0.09310	N	1	B;B;B	0.34329	0.078;0.025;0.449	B;B;B	0.38921	0.026;0.016;0.285	T	0.36841	-0.9731	9	0.20046	T	0.44	.	17.1942	0.86888	0.0:0.7494:0.1481:0.1025	.	81;81;79	E7EVX6;D3YPQ2;P10275	.;.;ANDR_HUMAN	Q	81;81;81;73	ENSP00000363822:E81Q;ENSP00000421155:E81Q;ENSP00000379359:E81Q	ENSP00000363822:E81Q	E	+	1	0	AR	66681954	0.000000	0.05858	0.001000	0.08648	0.047000	0.14425	-2.343000	0.01099	-1.154000	0.02825	-0.206000	0.12725	GAG		0.642	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		C	66765229	G	C	66765229	3	2	800	1	0	0	0	0	1	0	0	0	836	943	33	4	243	4	AR	23	66765229	Missense_Mutation	SNP	G	TCGA-UZ-A9PL-01A-11D-A382-10		66765229	88505331	73	47720											
AGTRAP	57085	hgsc.bcm.edu	37	1	11810188	11810188	+	Missense_Mutation	SNP	A	A	C			TCGA-UZ-A9PM-01A-21D-A382-10	TCGA-UZ-A9PM-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dfef537-01d1-4b16-a21d-4e9503040705	0ec588cf-97a6-49af-a772-c55a2af2cf9b	g.chr1:11810188A>C	ENST00000314340.5	+	5	473	c.419A>C	c.(418-420)gAg>gCg	p.E140A	AGTRAP_ENST00000376627.2_3'UTR|AGTRAP_ENST00000491346.1_3'UTR|AGTRAP_ENST00000376629.4_Missense_Mutation_p.E133A|AGTRAP_ENST00000452018.2_3'UTR|AGTRAP_ENST00000510878.1_Silent_p.R105R|AGTRAP_ENST00000376637.3_3'UTR|AGTRAP_ENST00000400895.2_3'UTR	NM_020350.4	NP_065083.3	Q6RW13	ATRAP_HUMAN	angiotensin II receptor-associated protein	140					regulation of blood pressure (GO:0008217)|response to hypoxia (GO:0001666)	cell cortex (GO:0005938)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	angiotensin type II receptor activity (GO:0004945)		AGTRAP/BRAF(2)	endometrium(1)|lung(3)|prostate(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.46e-06)|COAD - Colon adenocarcinoma(227;0.000256)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		GACTCAGCAGAGGCGCCCGCA	0.607																																																0													67	63	65					1																	11810188		2203	4300	6503	SO:0001583	missense	57085			AF165187	CCDS136.1, CCDS30585.1, CCDS30586.1, CCDS41248.1, CCDS44056.1	1p36.22	2008-02-05			ENSG00000177674	ENSG00000177674			13539	protein-coding gene	gene with protein product		608729				11733189	Standard	NM_001040194		Approved	ATRAP	uc001asv.3	Q6RW13	OTTHUMG00000002230	ENST00000314340.5:c.419A>C	chr1.hg19:g.11810188A>C	ENSP00000319713:p.Glu140Ala		A8MVQ5|Q5SNV4|Q5SNV5|Q96AC0|Q96PL4|Q9NRW9	Missense_Mutation	SNP	ENST00000314340.5	hg19	CCDS136.1	.	.	.	.	.	.	.	.	.	.	A	13.02	2.113706	0.37339	.	.	ENSG00000177674	ENST00000376629;ENST00000314340	T;T	0.50001	0.76;0.76	5.0	2.56	0.30785	.	0.549006	0.14015	U	0.347205	T	0.38772	0.1053	L	0.48362	1.52	0.09310	N	0.999995	B;B	0.15141	0.01;0.012	B;B	0.14578	0.004;0.011	T	0.25606	-1.0127	10	0.33940	T	0.23	.	8.9656	0.35874	0.632:0.368:0.0:0.0	.	133;140	Q6RW13-2;Q6RW13	.;ATRAP_HUMAN	A	133;140	ENSP00000365816:E133A;ENSP00000319713:E140A	ENSP00000319713:E140A	E	+	2	0	AGTRAP	11732775	0.796000	0.28864	0.007000	0.13788	0.104000	0.19210	2.023000	0.41040	0.330000	0.23485	0.459000	0.35465	GAG		0.607	AGTRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006335.1	NM_020350		C	11810188	A	C	11810188	3	2	801	1	0	0	0	0	1	0	0	0	403	304	11	5	538	5	AGTRAP	1	11810188	Missense_Mutation	SNP	A	TCGA-UZ-A9PM-01A-21D-A382-10		11810188	237440433	1	47721											
KIAA2013	90231	hgsc.bcm.edu	37	1	11985315	11985315	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9PM-01A-21D-A382-10	TCGA-UZ-A9PM-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dfef537-01d1-4b16-a21d-4e9503040705	0ec588cf-97a6-49af-a772-c55a2af2cf9b	g.chr1:11985315G>A	ENST00000376572.3	-	1	1165	c.980C>T	c.(979-981)gCg>gTg	p.A327V	KIAA2013_ENST00000376576.3_Missense_Mutation_p.A327V	NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN	KIAA2013	327						integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		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)		CAGCTCCGCCGCTGGCATGTC	0.597																																																0													38	39	38					1																	11985315		2203	4300	6503	SO:0001583	missense	90231			AB095933	CCDS141.1	1p36.22	2011-02-09			ENSG00000116685	ENSG00000116685			28513	protein-coding gene	gene with protein product						12477932	Standard	NM_138346		Approved	MGC33867, RP5-1077B9.1	uc001atk.3	Q8IYS2	OTTHUMG00000002391	ENST00000376572.3:c.980C>T	chr1.hg19:g.11985315G>A	ENSP00000365756:p.Ala327Val		Q5JXC1|Q8IVF8|Q8NDI7|Q9BSY1	Missense_Mutation	SNP	ENST00000376572.3	hg19	CCDS141.1	.	.	.	.	.	.	.	.	.	.	G	2.727	-0.265373	0.05754	.	.	ENSG00000116685	ENST00000376572;ENST00000376576	.	.	.	3.9	0.917	0.19380	.	0.346810	0.27522	N	0.018998	T	0.07234	0.0183	N	0.00707	-1.245	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.08055	0.003;0.003	T	0.31280	-0.9949	9	0.24483	T	0.36	-22.5578	4.5612	0.12161	0.2713:0.185:0.5437:0.0	.	327;327	Q8IYS2-2;Q8IYS2	.;K2013_HUMAN	V	327	.	ENSP00000365756:A327V	A	-	2	0	KIAA2013	11907902	0.897000	0.30589	0.001000	0.08648	0.003000	0.03518	3.278000	0.51662	0.413000	0.25759	-0.346000	0.07831	GCG		0.597	KIAA2013-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006858.1	NM_138346		A	11985315	G	A	11985315	3	1	801	1	0	0	0	0	1	0	0	0	8269	1087	38	1	936	1	KIAA2013	1	11985315	Missense_Mutation	SNP	G	TCGA-UZ-A9PM-01A-21D-A382-10	175127	11985315	237265306	2	47722											
KHDRBS1	10657	hgsc.bcm.edu	37	1	32479924	32479929	+	In_Frame_Del	DEL	GAGAAG	GAGAAG	-			TCGA-UZ-A9PM-01A-21D-A382-10	TCGA-UZ-A9PM-10A-01D-A385-10	GAGAAG	GAGAAG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dfef537-01d1-4b16-a21d-4e9503040705	0ec588cf-97a6-49af-a772-c55a2af2cf9b	g.chr1:32479924_32479929delGAGAAG	ENST00000327300.7	+	1	495_500	c.328_333delGAGAAG	c.(328-333)gagaagdel	p.EK110del	KHDRBS1_ENST00000492989.1_In_Frame_Del_p.EK110del|KHDRBS1_ENST00000307714.8_3'UTR	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)				ACTCATGGCCGAGAAGGACTCGCTCG	0.684																																					Ovarian(173;401 1982 12359 31110 42403)											0																																										SO:0001651	inframe_deletion	10657			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.328_333delGAGAAG	chr1.hg19:g.32479924_32479929delGAGAAG	ENSP00000313829:p.Glu110_Lys111del			In_Frame_Del	DEL	ENST00000327300.7	hg19	CCDS350.1																																																																																				0.684	KHDRBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011199.4	NM_006559		-	32479929	GAGAAG	-	32479924	7	5	801	1	0	1	0	1	0	0	0	0	8148	1059	37	0	330	0	KHDRBS1	1	32479924	In_Frame_Del	DEL	GAGAAG	TCGA-UZ-A9PM-01A-21D-A382-10	20494609	32479924	216770697	3	47723											
MACF1	23499	hgsc.bcm.edu	37	1	39901268	39901268	+	Silent	SNP	T	T	A			TCGA-UZ-A9PM-01A-21D-A382-10	TCGA-UZ-A9PM-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dfef537-01d1-4b16-a21d-4e9503040705	0ec588cf-97a6-49af-a772-c55a2af2cf9b	g.chr1:39901268T>A	ENST00000372915.3	+	68	17598	c.17511T>A	c.(17509-17511)atT>atA	p.I5837I	MACF1_ENST00000539005.1_Silent_p.I3749I|MACF1_ENST00000567887.1_Silent_p.I5978I|MACF1_ENST00000317713.7_Silent_p.I3879I|MACF1_ENST00000289893.4_Silent_p.I4381I|MACF1_ENST00000564288.1_Silent_p.I5941I|MACF1_ENST00000361689.2_Silent_p.I3879I|MACF1_ENST00000545844.1_Silent_p.I3879I			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5837					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)			AACCTCATATTGACAAACTAC	0.343																																																0													90	90	90					1																	39901268		2203	4300	6503	SO:0001819	synonymous_variant	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.17511T>A	chr1.hg19:g.39901268T>A			B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	hg19		.	.	.	.	.	.	.	.	.	.	T	9.384	1.073667	0.20147	.	.	ENSG00000127603	ENST00000372925	.	.	.	5.9	2.37	0.29283	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.2174	0.37355	0.0:0.2811:0.0:0.7189	.	.	.	.	R	2883	.	.	X	+	1	0	MACF1	39673855	0.985000	0.35326	1.000000	0.80357	0.840000	0.47671	0.184000	0.16939	0.488000	0.27723	-0.263000	0.10527	TGA		0.343	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		A	39901268	T	A	39901268	2	1	801	1	0	0	0	0	0	0	0	1	9146	1800	63	5		5	MACF1	1	39901268	Silent	SNP	T	TCGA-UZ-A9PM-01A-21D-A382-10	7421344	39901268	209349353	4	47724											
SMAP2	64744	hgsc.bcm.edu	37	1	40880943	40880943	+	Splice_Site	SNP	G	G	T			TCGA-UZ-A9PM-01A-21D-A382-10	TCGA-UZ-A9PM-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dfef537-01d1-4b16-a21d-4e9503040705	0ec588cf-97a6-49af-a772-c55a2af2cf9b	g.chr1:40880943G>T	ENST00000487871.1	+	2	264		c.e2-1		SMAP2_ENST00000539317.1_Splice_Site			Q8WU79	SMAP2_HUMAN	small ArfGAP2						regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			central_nervous_system(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24	Lung NSC(20;1.56e-05)|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;1.04e-17)			TCTCTTTCTAGATGCTCCTGT	0.463																																																0													219	211	214					1																	40880943		2203	4300	6503	SO:0001630	splice_region_variant	64744			AL137764	CCDS451.1, CCDS55592.1, CCDS55593.1, CCDS72763.1	1p35.3-p34.1	2008-09-22	2008-09-05	2008-01-09	ENSG00000084070	ENSG00000084070		"ADP-ribosylation factor GTPase activating proteins"	25082	protein-coding gene	gene with protein product			"stromal membrane-associated protein 1-like", "stromal membrane-associated GTPase-activating protein 2"	SMAP1L		16571680	Standard	NM_001198978		Approved		uc001cfj.3	Q8WU79	OTTHUMG00000007301	ENST00000487871.1:c.265-1G>T	chr1.hg19:g.40880943G>T			B2R7T1|B7Z5B5|B7Z8V2|D3DPV2|Q5QPL2|Q96C93|Q9NST2|Q9UJL8	Splice_Site	SNP	ENST00000487871.1	hg19		.	.	.	.	.	.	.	.	.	.	G	21.3	4.131745	0.77662	.	.	ENSG00000084070	ENST00000435168;ENST00000372718;ENST00000372708;ENST00000539317	.	.	.	6.08	6.08	0.98989	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1573	0.89696	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SMAP2	40653530	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	6.291000	0.72719	2.894000	0.99253	0.655000	0.94253	.		0.463	SMAP2-004	KNOWN	mRNA_end_NF|basic	processed_transcript	protein_coding	OTTHUMT00000019077.1	NM_022733	Intron	T	40880943	G	T	40880943	5	4	801	1	0	0	0	0	0	0	1	0	14773	956	33	4	597	4	SMAP2	1	40880943	Splice_Site	SNP	G	TCGA-UZ-A9PM-01A-21D-A382-10	979675	40880943	208369678	5	47725											
S100A7L2	645922	hgsc.bcm.edu	37	1	153410759	153410759	+	Missense_Mutation	SNP	A	A	T			TCGA-UZ-A9PM-01A-21D-A382-10	TCGA-UZ-A9PM-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dfef537-01d1-4b16-a21d-4e9503040705	0ec588cf-97a6-49af-a772-c55a2af2cf9b	g.chr1:153410759A>T	ENST00000368725.2	-	2	79	c.80T>A	c.(79-81)aTg>aAg	p.M27K		NM_001045479.1	NP_001038944.2	Q5SY68	S1A7B_HUMAN	S100 calcium binding protein A7-like 2	16	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			NS(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			TTGGCGAAACATCGCGACTAT	0.433																																																0													197	161	173					1																	153410759		2203	4300	6503	SO:0001583	missense	645922					1q21.3	2013-01-10			ENSG00000197364	ENSG00000197364		"EF-hand domain containing"	21655	protein-coding gene	gene with protein product							Standard	NM_001045479		Approved	s100a7b	uc010pdx.2	Q5SY68	OTTHUMG00000013129	ENST00000368725.2:c.80T>A	chr1.hg19:g.153410759A>T	ENSP00000357714:p.Met27Lys			Missense_Mutation	SNP	ENST00000368725.2	hg19		.	.	.	.	.	.	.	.	.	.	.	7.736	0.700320	0.15106	.	.	ENSG00000197364	ENST00000368725;ENST00000368724;ENST00000453814	T;T;T	0.06528	3.29;3.29;3.29	2.01	-0.664	0.11406	EF-hand-like domain (1);	.	.	.	.	T	0.01730	0.0055	L	0.44542	1.39	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.44922	-0.9296	9	0.72032	D	0.01	.	4.5322	0.12011	0.6351:0.0:0.3649:0.0	.	16	Q5SY68	S1A7B_HUMAN	K	16;16;27	ENSP00000357714:M16K;ENSP00000357713:M16K;ENSP00000405610:M27K	ENSP00000357713:M16K	M	-	2	0	S100A7L2	151677383	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	1.141000	0.31528	-0.166000	0.10890	0.416000	0.27883	ATG		0.433	S100A7L2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000036797.2	NM_001045479		T	153410759	A	T	153410759	3	4	801	1	0	0	0	0	1	0	0	0	13791	217	8	5	266	5	S100A7L2	1	153410759	Missense_Mutation	SNP	A	TCGA-UZ-A9PM-01A-21D-A382-10	112529816	153410759	95839862	6	47726											
CD1D	912	hgsc.bcm.edu	37	1	158152692	158152692	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9PM-01A-21D-A382-10	TCGA-UZ-A9PM-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dfef537-01d1-4b16-a21d-4e9503040705	0ec588cf-97a6-49af-a772-c55a2af2cf9b	g.chr1:158152692G>A	ENST00000368171.3	+	5	1131	c.632G>A	c.(631-633)cGt>cAt	p.R211H		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	211	Ig-like.				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)					TGGCTGTCCCGTGGCCCCAGT	0.572																																																0													77	80	79					1																	158152692		2203	4300	6503	SO:0001583	missense	912			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.632G>A	chr1.hg19:g.158152692G>A	ENSP00000357153:p.Arg211His		D3DVD5|Q5W0J3|Q9UMM3|Q9Y5M4	Missense_Mutation	SNP	ENST00000368171.3	hg19	CCDS1173.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.370682	0.42003	.	.	ENSG00000158473	ENST00000368171	T	0.14022	2.54	4.66	1.73	0.24493	Immunoglobulin-like (1);MHC class I-like antigen recognition (1);	1.035360	0.07603	N	0.923929	T	0.02610	0.0079	L	0.33189	0.99	0.09310	N	0.999999	D	0.55172	0.97	B	0.38458	0.274	T	0.34254	-0.9836	10	0.22706	T	0.39	0.2225	4.2364	0.10627	0.2121:0.2105:0.5773:0.0	.	211	P15813	CD1D_HUMAN	H	211	ENSP00000357153:R211H	ENSP00000357153:R211H	R	+	2	0	CD1D	156419316	0.003000	0.15002	0.721000	0.30653	0.981000	0.71138	0.290000	0.18975	0.664000	0.31047	0.655000	0.94253	CGT		0.572	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058340.1	NM_001766		A	158152692	G	A	158152692	3	1	801	1	0	0	0	0	1	0	0	0	2979	1145	40	1	646	1	CD1D	1	158152692	Missense_Mutation	SNP	G	TCGA-UZ-A9PM-01A-21D-A382-10	4741933	158152692	91097929	7	47727											
CCT4	10575	hgsc.bcm.edu	37	2	62099619	62099619	+	Missense_Mutation	SNP	A	A	C			TCGA-UZ-A9PM-01A-21D-A382-10	TCGA-UZ-A9PM-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dfef537-01d1-4b16-a21d-4e9503040705	0ec588cf-97a6-49af-a772-c55a2af2cf9b	g.chr2:62099619A>C	ENST00000394440.3	-	11	1526	c.1230T>G	c.(1228-1230)tgT>tgG	p.C410W	CCT4_ENST00000538252.1_Missense_Mutation_p.C354W|AC107081.5_ENST00000425779.1_RNA|CCT4_ENST00000544185.1_Missense_Mutation_p.C260W|CCT4_ENST00000461540.2_Intron|CCT4_ENST00000544079.1_Missense_Mutation_p.C380W	NM_006430.3	NP_006421.2	P50991	TCPD_HUMAN	chaperonin containing TCP1, subunit 4 (delta)	410					'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)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|large_intestine(2)|lung(6)|ovary(2)	11	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)			AACGAATAACACATAGGGCAT	0.343																																																0													74	69	71					2																	62099619		2203	4300	6503	SO:0001583	missense	10575				CCDS33206.1, CCDS58711.1	2p15	2011-09-02			ENSG00000115484	ENSG00000115484		"Heat Shock Proteins / Chaperonins"	1617	protein-coding gene	gene with protein product		605142				9819444	Standard	NM_001256721		Approved	Cctd	uc002sbo.4	P50991	OTTHUMG00000152166	ENST00000394440.3:c.1230T>G	chr2.hg19:g.62099619A>C	ENSP00000377958:p.Cys410Trp		B2R6I3|B7Z8B1|F5H5W3|O14870|Q53QP9|Q96C51	Missense_Mutation	SNP	ENST00000394440.3	hg19	CCDS33206.1	.	.	.	.	.	.	.	.	.	.	A	16.28	3.079180	0.55753	.	.	ENSG00000115484	ENST00000394440;ENST00000544079;ENST00000544185;ENST00000538252	T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24	5.77	3.4	0.38934	.	0.000000	0.85682	D	0.000000	D	0.90964	0.7159	H	0.97516	4.02	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.90431	0.4424	10	0.66056	D	0.02	-9.4227	9.3135	0.37919	0.79:0.0:0.21:0.0	.	380;410	F5H5W3;P50991	.;TCPD_HUMAN	W	410;380;260;354	ENSP00000377958:C410W;ENSP00000443061:C380W;ENSP00000443451:C260W;ENSP00000442174:C354W	ENSP00000377958:C410W	C	-	3	2	CCT4	61953123	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	3.544000	0.53640	0.539000	0.28788	-0.250000	0.11733	TGT		0.343	CCT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325548.2			C	62099619	A	C	62099619	3	2	801	1	0	0	0	0	1	0	0	0	2957	157	6	5	405	5	CCT4	2	62099619	Missense_Mutation	SNP	A	TCGA-UZ-A9PM-01A-21D-A382-10		62099619	181099754	8	47728											
VWA3B	200403	hgsc.bcm.edu	37	2	98736067	98736067	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9PM-01A-21D-A382-10	TCGA-UZ-A9PM-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dfef537-01d1-4b16-a21d-4e9503040705	0ec588cf-97a6-49af-a772-c55a2af2cf9b	g.chr2:98736067G>A	ENST00000477737.1	+	4	587	c.383G>A	c.(382-384)aGc>aAc	p.S128N	VWA3B_ENST00000435344.1_Missense_Mutation_p.S128N|VWA3B_ENST00000451075.2_Intron	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	128										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						TGGCTCACCAGCAAGAGCCGG	0.483																																																0													152	148	149					2																	98736067		1966	4147	6113	SO:0001583	missense	200403			AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.383G>A	chr2.hg19:g.98736067G>A	ENSP00000417955:p.Ser128Asn		B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	hg19	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.408008	0.83340	.	.	ENSG00000168658	ENST00000435344;ENST00000477737	T;T	0.38401	1.14;1.14	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.53786	0.1818	M	0.70842	2.15	0.80722	D	1	D;D	0.58970	0.966;0.984	B;P	0.55824	0.376;0.785	T	0.52749	-0.8534	10	0.54805	T	0.06	.	15.466	0.75400	0.0:0.1391:0.8609:0.0	.	128;128	Q502W6;Q502W6-8	VWA3B_HUMAN;.	N	128	ENSP00000401959:S128N;ENSP00000417955:S128N	ENSP00000411168:S128N	S	+	2	0	VWA3B	98102499	1.000000	0.71417	0.983000	0.44433	0.975000	0.68041	5.358000	0.66064	2.865000	0.98341	0.655000	0.94253	AGC		0.483	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		A	98736067	G	A	98736067	3	1	801	1	0	0	0	0	1	0	0	0	17246	971	34	2	393	2	VWA3B	2	98736067	Missense_Mutation	SNP	G	TCGA-UZ-A9PM-01A-21D-A382-10	36636448	98736067	144463306	9	47729											
DNAH7	56171	hgsc.bcm.edu	37	2	196825319	196825319	+	Silent	SNP	C	C	T			TCGA-UZ-A9PM-01A-21D-A382-10	TCGA-UZ-A9PM-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dfef537-01d1-4b16-a21d-4e9503040705	0ec588cf-97a6-49af-a772-c55a2af2cf9b	g.chr2:196825319C>T	ENST00000312428.6	-	18	2656	c.2556G>A	c.(2554-2556)agG>agA	p.R852R		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	852	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						CCTCCCAGTGCCTGGGGCGCA	0.443																																																0													118	120	119					2																	196825319		1932	4123	6055	SO:0001819	synonymous_variant	56171			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.2556G>A	chr2.hg19:g.196825319C>T			B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	ENST00000312428.6	hg19	CCDS42794.1																																																																																				0.443	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		T	196825319	C	T	196825319	2	4	801	1	0	0	0	0	0	0	0	1	4608	738	26	2		2	DNAH7	2	196825319	Silent	SNP	C	TCGA-UZ-A9PM-01A-21D-A382-10	98089252	196825319	46374054	10	47730											
ZFYVE20	64145	hgsc.bcm.edu	37	3	15132018	15132018	+	Missense_Mutation	SNP	C	C	G			TCGA-UZ-A9PM-01A-21D-A382-10	TCGA-UZ-A9PM-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dfef537-01d1-4b16-a21d-4e9503040705	0ec588cf-97a6-49af-a772-c55a2af2cf9b	g.chr3:15132018C>G	ENST00000253699.3	-	5	790	c.177G>C	c.(175-177)aaG>aaC	p.K59N	ZFYVE20_ENST00000435849.3_Missense_Mutation_p.K59N|ZFYVE20_ENST00000476527.2_Missense_Mutation_p.K59N|ZFYVE20_ENST00000449964.2_5'UTR	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	59					blood coagulation (GO:0007596)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	endosome (GO:0005768)|endosome membrane (GO:0010008)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						ACAACCTGTCCTTTGCTTTTT	0.423																																																0													193	166	175					3																	15132018		2203	4300	6503	SO:0001583	missense	64145			AY009133	CCDS2623.1	3p25.1	2014-01-15			ENSG00000131381	ENSG00000131381		"Zinc fingers, FYVE domain containing"	20759	protein-coding gene	gene with protein product		609511				11062261	Standard	XR_427283		Approved	Rabenosyn-5	uc003bzm.1	Q9H1K0	OTTHUMG00000129860	ENST00000253699.3:c.177G>C	chr3.hg19:g.15132018C>G	ENSP00000253699:p.Lys59Asn		B4DWY8|C9J4P5|Q3KP30|Q59EY8|Q8NAQ1	Missense_Mutation	SNP	ENST00000253699.3	hg19	CCDS2623.1	.	.	.	.	.	.	.	.	.	.	C	19.89	3.911580	0.72983	.	.	ENSG00000131381	ENST00000253699;ENST00000476527;ENST00000435849	T;T;T	0.73469	0.44;0.44;-0.75	5.7	3.93	0.45458	.	0.048887	0.85682	D	0.000000	T	0.81064	0.4745	L	0.56769	1.78	0.46609	D	0.999126	P;D	0.76494	0.718;0.999	B;D	0.68765	0.109;0.96	T	0.79907	-0.1605	10	0.54805	T	0.06	-39.4085	9.7229	0.40313	0.0:0.7889:0.0:0.2111	.	59;59	B4DWY8;Q9H1K0	.;RBNS5_HUMAN	N	59	ENSP00000253699:K59N;ENSP00000422551:K59N;ENSP00000391039:K59N	ENSP00000253699:K59N	K	-	3	2	ZFYVE20	15107022	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	2.534000	0.45676	0.774000	0.33427	-0.237000	0.12165	AAG		0.423	ZFYVE20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252102.2	NM_022340		G	15132018	C	G	15132018	3	3	801	1	0	0	0	0	1	0	0	0	17671	680	24	4	2217	4	ZFYVE20	3	15132018	Missense_Mutation	SNP	C	TCGA-UZ-A9PM-01A-21D-A382-10		15132018	182890412	11	47731											
PARP14	54625	hgsc.bcm.edu	37	3	122437700	122437701	+	Missense_Mutation	DNP	GA	GA	AT			TCGA-UZ-A9PM-01A-21D-A382-10	TCGA-UZ-A9PM-10A-01D-A385-10	G|A	G|A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dfef537-01d1-4b16-a21d-4e9503040705	0ec588cf-97a6-49af-a772-c55a2af2cf9b	g.chr3:122437700_122437701GA>AT	ENST00000474629.2	+	14	4968_4969	c.4702_4703GA>AT	c.(4702-4704)GAt>ATt	p.D1568I	PARP14_ENST00000475640.1_3'UTR	NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1568	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		AAAAACAGTTGATGTCAAAATT	0.376																																																0																																										SO:0001583	missense	54625			AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"Poly (ADP-ribose) polymerases"	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	Exception_encountered	chr3.hg19:g.122437700_122437701delinsAT	ENSP00000418194:p.Asp1568Ile		B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP	ENST00000474629.2	hg19	CCDS46894.1																																																																																				0.376	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554		AT	122437701	GA	AT	122437700	3	1	801	1	0	0	0	0	1	0	0	0	11460	1290	45	2	4756	2	PARP14	3	122437700	Missense_Mutation	DNP	GA	TCGA-UZ-A9PM-01A-21D-A382-10	107305682	122437700	75584730	12	47732											
PLXND1	23129	hgsc.bcm.edu	37	3	129285459	129285459	+	Missense_Mutation	SNP	C	C	T			TCGA-UZ-A9PM-01A-21D-A382-10	TCGA-UZ-A9PM-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dfef537-01d1-4b16-a21d-4e9503040705	0ec588cf-97a6-49af-a772-c55a2af2cf9b	g.chr3:129285459C>T	ENST00000324093.4	-	23	4280	c.4102G>A	c.(4102-4104)Gaa>Aaa	p.E1368K	PLXND1_ENST00000393239.1_Missense_Mutation_p.E1368K	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1368					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						TAACGCTCTTCATAAAGGGAG	0.617																																					Ovarian(97;366 1484 3738 22084 39045)											0													69	62	64					3																	129285459		2203	4300	6503	SO:0001583	missense	23129			AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"Plexins"	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.4102G>A	chr3.hg19:g.129285459C>T	ENSP00000317128:p.Glu1368Lys		A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	ENST00000324093.4	hg19	CCDS33854.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.755199	0.89843	.	.	ENSG00000004399	ENST00000324093;ENST00000393239	T;T	0.35048	1.38;1.33	4.97	4.09	0.47781	Plexin, cytoplasmic RasGAP domain (1);	35.924200	0.00757	U	0.001109	T	0.51261	0.1664	L	0.40543	1.245	0.58432	D	0.999992	D	0.53619	0.961	P	0.54629	0.757	T	0.07539	-1.0767	10	0.87932	D	0	.	13.5873	0.61940	0.0:0.924:0.0:0.076	.	1368	Q9Y4D7	PLXD1_HUMAN	K	1368	ENSP00000317128:E1368K;ENSP00000376931:E1368K	ENSP00000317128:E1368K	E	-	1	0	PLXND1	130768149	1.000000	0.71417	0.994000	0.49952	0.919000	0.55068	4.423000	0.59861	1.061000	0.40601	0.563000	0.77884	GAA		0.617	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		T	129285459	C	T	129285459	3	4	801	1	0	0	0	0	1	0	0	0	12129	835	29	2	1731	2	PLXND1	3	129285459	Missense_Mutation	SNP	C	TCGA-UZ-A9PM-01A-21D-A382-10	6847759	129285459	68736971	13	47733											
PLOD2	5352	hgsc.bcm.edu	37	3	145841934	145841934	+	Silent	SNP	A	A	G			TCGA-UZ-A9PM-01A-21D-A382-10	TCGA-UZ-A9PM-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dfef537-01d1-4b16-a21d-4e9503040705	0ec588cf-97a6-49af-a772-c55a2af2cf9b	g.chr3:145841934A>G	ENST00000360060.3	-	2	369	c.192T>C	c.(190-192)taT>taC	p.Y64Y	PLOD2_ENST00000494950.1_Silent_p.Y9Y|PLOD2_ENST00000282903.5_Silent_p.Y64Y	NM_000935.2	NP_000926.2	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	64					cellular protein modification process (GO:0006464)|extracellular matrix organization (GO:0030198)|response to hypoxia (GO:0001666)	endoplasmic reticulum (GO:0005783)|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)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	CCTTCACAGTATAATTGAAAT	0.328																																																0													143	139	140					3																	145841934		2202	4300	6502	SO:0001819	synonymous_variant	5352			U84573	CCDS3131.1, CCDS3132.1	3q24	2011-08-24	2005-01-04		ENSG00000152952	ENSG00000152952			9082	protein-coding gene	gene with protein product	"lysyl hydroxlase 2"	601865	"procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 2"			9054364	Standard	XM_005247535		Approved	LH2	uc003evr.1	O00469	OTTHUMG00000159417	ENST00000360060.3:c.192T>C	chr3.hg19:g.145841934A>G			B3KWS3|Q59ED2|Q8N170	Silent	SNP	ENST00000360060.3	hg19	CCDS3131.1																																																																																				0.328	PLOD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355185.1	NM_000935		G	145841934	A	G	145841934	2	3	801	1	0	0	0	0	0	0	0	1	12104	456	16	3		3	PLOD2	3	145841934	Silent	SNP	A	TCGA-UZ-A9PM-01A-21D-A382-10	16556475	145841934	52180496	14	47734											
OTUD4	54726	hgsc.bcm.edu	37	4	146071985	146071985	+	Missense_Mutation	SNP	T	T	A			TCGA-UZ-A9PM-01A-21D-A382-10	TCGA-UZ-A9PM-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dfef537-01d1-4b16-a21d-4e9503040705	0ec588cf-97a6-49af-a772-c55a2af2cf9b	g.chr4:146071985T>A	ENST00000447906.2	-	12	1228	c.1041A>T	c.(1039-1041)aaA>aaT	p.K347N	OTUD4_ENST00000455611.2_5'UTR|Y_RNA_ENST00000459374.1_RNA|OTUD4_ENST00000454497.2_Missense_Mutation_p.K282N			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	347					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)					AAGTGGAAGGTTTTTTCATCT	0.433																																																0													80	75	77					4																	146071985		2203	4300	6503	SO:0001583	missense	54726				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.1041A>T	chr4.hg19:g.146071985T>A	ENSP00000395487:p.Lys347Asn		B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	ENST00000447906.2	hg19		.	.	.	.	.	.	.	.	.	.	T	20.7	4.030197	0.75504	.	.	ENSG00000164164	ENST00000454497;ENST00000447906;ENST00000514973	T;T;T	0.34667	1.35;1.35;1.4	5.84	0.973	0.19710	.	0.000000	0.85682	D	0.000000	T	0.47154	0.1430	L	0.55481	1.735	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77557	0.99;0.978	T	0.30563	-0.9974	10	0.27785	T	0.31	-23.5677	8.8141	0.34985	0.0:0.4241:0.0:0.5759	.	347;346	G3V0I6;Q01804	.;OTUD4_HUMAN	N	282;347;281	ENSP00000409279:K282N;ENSP00000395487:K347N;ENSP00000425972:K281N	ENSP00000395487:K347N	K	-	3	2	OTUD4	146291435	0.864000	0.29904	0.992000	0.48379	0.995000	0.86356	-0.169000	0.09911	0.491000	0.27793	0.533000	0.62120	AAA		0.433	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		A	146071985	T	A	146071985	3	1	801	1	0	0	0	0	1	0	0	0	11316	1722	60	5	2343	5	OTUD4	4	146071985	Missense_Mutation	SNP	T	TCGA-UZ-A9PM-01A-21D-A382-10		146071985	45082291	15	47735											
RXFP1	59350	hgsc.bcm.edu	37	4	159568062	159568062	+	Missense_Mutation	SNP	G	G	C			TCGA-UZ-A9PM-01A-21D-A382-10	TCGA-UZ-A9PM-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dfef537-01d1-4b16-a21d-4e9503040705	0ec588cf-97a6-49af-a772-c55a2af2cf9b	g.chr4:159568062G>C	ENST00000307765.5	+	16	1716	c.1465G>C	c.(1465-1467)Gga>Cga	p.G489R	RXFP1_ENST00000460056.2_Missense_Mutation_p.G408R|RXFP1_ENST00000343542.5_Missense_Mutation_p.G441R|RXFP1_ENST00000470033.1_Missense_Mutation_p.G456R|RXFP1_ENST00000448688.2_Missense_Mutation_p.G384R	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	489					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)	p.G489R(1)		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)		TCAGCTTGTAGGATCTTTGGC	0.388																																																1	Substitution - Missense(1)	lung(1)											138	128	131					4																	159568062		1915	4142	6057	SO:0001583	missense	59350			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.1465G>C	chr4.hg19:g.159568062G>C	ENSP00000303248:p.Gly489Arg		B4DHD1|B4DTV2|Q2M215|Q3KU24|Q3KU25|Q3KU26	Missense_Mutation	SNP	ENST00000307765.5	hg19	CCDS43276.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.646174	0.87958	.	.	ENSG00000171509	ENST00000460056;ENST00000307765;ENST00000448688;ENST00000343542;ENST00000470033;ENST00000440678	T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08	5.74	5.74	0.90152	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.73202	0.3557	M	0.90814	3.15	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.998;1.0;1.0;0.997;0.996;0.996;0.998;1.0	T	0.78316	-0.2251	10	0.87932	D	0	.	19.9294	0.97114	0.0:0.0:1.0:0.0	.	500;516;384;441;456;408;359;489	B3KV27;B4DGP2;B4DHD1;Q9HBX9-4;Q9HBX9-2;E9PCA3;Q59H16;Q9HBX9	.;.;.;.;.;.;.;RXFP1_HUMAN	R	408;489;384;441;456;359	ENSP00000423306:G408R;ENSP00000303248:G489R;ENSP00000414885:G384R;ENSP00000345889:G441R;ENSP00000420712:G456R	ENSP00000303248:G489R	G	+	1	0	RXFP1	159787512	1.000000	0.71417	0.624000	0.29186	0.684000	0.39900	9.777000	0.99008	2.701000	0.92244	0.650000	0.86243	GGA		0.388	RXFP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314865.1	NM_021634		C	159568062	G	C	159568062	3	2	801	1	0	0	0	0	1	0	0	0	13765	1001	35	4	1527	4	RXFP1	4	159568062	Missense_Mutation	SNP	G	TCGA-UZ-A9PM-01A-21D-A382-10	13496077	159568062	31586214	16	47736											
FNIP2	57600	hgsc.bcm.edu	37	4	159690401	159690401	+	Missense_Mutation	SNP	A	A	G			TCGA-UZ-A9PM-01A-21D-A382-10	TCGA-UZ-A9PM-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dfef537-01d1-4b16-a21d-4e9503040705	0ec588cf-97a6-49af-a772-c55a2af2cf9b	g.chr4:159690401A>G	ENST00000264433.6	+	1	112	c.37A>G	c.(37-39)Agg>Ggg	p.R13G		NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	13					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		CTTCAACAAAAGGGGCAGCAG	0.741																																																0													3	4	4					4																	159690401		1502	3576	5078	SO:0001583	missense	57600			AB040883	CCDS47155.1	4q32.1	2012-10-31			ENSG00000052795	ENSG00000052795			29280	protein-coding gene	gene with protein product	"O6-methylguanine-induced apoptosis 1"	612768				18403135	Standard	NM_020840		Approved	KIAA1450, FNIPL, MAPO1	uc003iqe.4	Q9P278	OTTHUMG00000161983	ENST00000264433.6:c.37A>G	chr4.hg19:g.159690401A>G	ENSP00000264433:p.Arg13Gly		Q05DC3|Q96I31|Q9H994	Missense_Mutation	SNP	ENST00000264433.6	hg19	CCDS47155.1	.	.	.	.	.	.	.	.	.	.	A	15.71	2.912811	0.52439	.	.	ENSG00000052795	ENST00000264433	T	0.27402	1.67	2.95	2.95	0.34219	.	.	.	.	.	T	0.26231	0.0640	L	0.29908	0.895	0.80722	D	1	P	0.46142	0.873	P	0.46659	0.523	T	0.02766	-1.1113	9	0.52906	T	0.07	.	8.6275	0.33899	1.0:0.0:0.0:0.0	.	13	Q9P278	FNIP2_HUMAN	G	13	ENSP00000264433:R13G	ENSP00000264433:R13G	R	+	1	2	FNIP2	159909851	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	3.809000	0.55606	1.210000	0.43336	0.459000	0.35465	AGG		0.741	FNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366602.1	NM_020840		G	159690401	A	G	159690401	3	3	801	1	0	0	0	0	1	0	0	0	5978	63	3	3	39	3	FNIP2	4	159690401	Missense_Mutation	SNP	A	TCGA-UZ-A9PM-01A-21D-A382-10	122339	159690401	31463875	17	47737											
KCTD16	57528	hgsc.bcm.edu	37	5	143586905	143586905	+	Missense_Mutation	SNP	A	A	T			TCGA-UZ-A9PM-01A-21D-A382-10	TCGA-UZ-A9PM-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dfef537-01d1-4b16-a21d-4e9503040705	0ec588cf-97a6-49af-a772-c55a2af2cf9b	g.chr5:143586905A>T	ENST00000507359.3	+	2	1719	c.628A>T	c.(628-630)Aat>Tat	p.N210Y	KCTD16_ENST00000512467.1_Missense_Mutation_p.N210Y	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	210					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)				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)			AGAAACTTTGAATGAAAGCAG	0.463																																																0													60	65	63					5																	143586905		2203	4300	6503	SO:0001583	missense	57528			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.628A>T	chr5.hg19:g.143586905A>T	ENSP00000426548:p.Asn210Tyr		Q9P2M9	Missense_Mutation	SNP	ENST00000507359.3	hg19	CCDS34260.1	.	.	.	.	.	.	.	.	.	.	A	17.29	3.352573	0.61293	.	.	ENSG00000183775	ENST00000512467;ENST00000507359	T;T	0.61859	0.07;0.07	5.69	4.51	0.55191	.	0.043674	0.85682	D	0.000000	T	0.77445	0.4131	M	0.85945	2.785	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.80589	-0.1315	10	0.87932	D	0	.	12.9381	0.58327	0.8645:0.1355:0.0:0.0	.	210	Q68DU8	KCD16_HUMAN	Y	210	ENSP00000424151:N210Y;ENSP00000426548:N210Y	ENSP00000426548:N210Y	N	+	1	0	KCTD16	143567098	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.281000	0.95811	0.968000	0.38212	0.459000	0.35465	AAT		0.463	KCTD16-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371898.3	XM_098368		T	143586905	A	T	143586905	3	4	801	1	0	0	0	0	1	0	0	0	8105	246	9	5	630	5	KCTD16	5	143586905	Missense_Mutation	SNP	A	TCGA-UZ-A9PM-01A-21D-A382-10		143586905	37328355	18	47738											
SFXN1	94081	hgsc.bcm.edu	37	5	174937182	174937182	+	Missense_Mutation	SNP	A	A	G			TCGA-UZ-A9PM-01A-21D-A382-10	TCGA-UZ-A9PM-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dfef537-01d1-4b16-a21d-4e9503040705	0ec588cf-97a6-49af-a772-c55a2af2cf9b	g.chr5:174937182A>G	ENST00000321442.5	+	4	660	c.406A>G	c.(406-408)Aga>Gga	p.R136G	SFXN1_ENST00000502393.1_Missense_Mutation_p.R136G	NM_022754.5	NP_073591.2	Q9H9B4	SFXN1_HUMAN	sideroflexin 1	136					erythrocyte differentiation (GO:0030218)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(3)	15	all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873)	Medulloblastoma(196;0.0399)|all_neural(177;0.0663)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TTACACCAACAGAAGTGGAGA	0.488																																																0													145	111	122					5																	174937182		2203	4300	6503	SO:0001583	missense	94081			AF327346	CCDS4394.1	5q35.3	2008-02-05			ENSG00000164466	ENSG00000164466		"Sideroflexins"	16085	protein-coding gene	gene with protein product		615569					Standard	NM_022754		Approved	FLJ12876	uc003mda.2	Q9H9B4	OTTHUMG00000130555	ENST00000321442.5:c.406A>G	chr5.hg19:g.174937182A>G	ENSP00000316905:p.Arg136Gly		B3KPW3|D3DQN2|Q9HA53	Missense_Mutation	SNP	ENST00000321442.5	hg19	CCDS4394.1	.	.	.	.	.	.	.	.	.	.	A	17.22	3.333836	0.60853	.	.	ENSG00000164466	ENST00000507017;ENST00000321442;ENST00000506963	T;T;T	0.38560	1.13;1.13;1.13	5.48	-0.0886	0.13672	.	0.000000	0.85682	D	0.000000	T	0.68568	0.3015	M	0.92691	3.335	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.992;1.0	T	0.72484	-0.4279	10	0.42905	T	0.14	-25.9016	14.118	0.65167	0.4683:0.5317:0.0:0.0	.	136;136	D6RFI0;Q9H9B4	.;SFXN1_HUMAN	G	136	ENSP00000420961:R136G;ENSP00000316905:R136G;ENSP00000421467:R136G	ENSP00000316905:R136G	R	+	1	2	SFXN1	174869788	0.997000	0.39634	0.478000	0.27316	0.523000	0.34469	0.631000	0.24568	-0.233000	0.09797	0.533000	0.62120	AGA		0.488	SFXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252980.2	NM_022754		G	174937182	A	G	174937182	3	3	801	1	0	0	0	0	1	0	0	0	14200	180	7	3	416	3	SFXN1	5	174937182	Missense_Mutation	SNP	A	TCGA-UZ-A9PM-01A-21D-A382-10	31350277	174937182	5978078	19	47739											
ZNF318	24149	hgsc.bcm.edu	37	6	43316086	43316086	+	Silent	SNP	C	C	T			TCGA-UZ-A9PM-01A-21D-A382-10	TCGA-UZ-A9PM-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dfef537-01d1-4b16-a21d-4e9503040705	0ec588cf-97a6-49af-a772-c55a2af2cf9b	g.chr6:43316086C>T	ENST00000361428.2	-	6	3125	c.3048G>A	c.(3046-3048)tcG>tcA	p.S1016S	ZNF318_ENST00000318149.3_Silent_p.S1016S	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1016					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.S1016S(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			AGTTTGAGAACGATGACACTT	0.378																																																1	Substitution - coding silent(1)	lung(1)											214	219	217					6																	43316086		2203	4300	6503	SO:0001819	synonymous_variant	24149			AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"Zinc fingers, C2H2-type"	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.3048G>A	chr6.hg19:g.43316086C>T			O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Silent	SNP	ENST00000361428.2	hg19	CCDS4895.2																																																																																				0.378	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		T	43316086	C	T	43316086	2	4	801	1	0	0	0	0	0	0	0	1	17841	523	19	1		1	ZNF318	6	43316086	Silent	SNP	C	TCGA-UZ-A9PM-01A-21D-A382-10		43316086	127798981	20	47740											
AP4M1	9179	hgsc.bcm.edu	37	7	99702504	99702504	+	Missense_Mutation	SNP	T	T	A			TCGA-UZ-A9PM-01A-21D-A382-10	TCGA-UZ-A9PM-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dfef537-01d1-4b16-a21d-4e9503040705	0ec588cf-97a6-49af-a772-c55a2af2cf9b	g.chr7:99702504T>A	ENST00000359593.4	+	8	772	c.614T>A	c.(613-615)cTg>cAg	p.L205Q	MCM7_ENST00000303887.5_5'Flank|MCM7_ENST00000343023.6_5'Flank|AP4M1_ENST00000429084.1_Missense_Mutation_p.L212Q|AP4M1_ENST00000421755.1_Missense_Mutation_p.L205Q|AP4M1_ENST00000422582.1_Missense_Mutation_p.L77Q	NM_004722.3	NP_004713.2	O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	205	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|Golgi trans cisterna (GO:0000138)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAGGGATCCCTGCTGAAGGTG	0.567																																					Pancreas(174;1182 2812 29595 49511)											0													114	112	113					7																	99702504		2203	4300	6503	SO:0001583	missense	9179			Y08387	CCDS5685.1	7q22.1	2012-06-29			ENSG00000221838	ENSG00000221838			574	protein-coding gene	gene with protein product	"mu-adaptin-related protein-2", "mu subunit of AP-4", "AP-4 adapter complex mu subunit", "adaptor-related protein complex AP-4 mu4 subunit"	602296				9013859, 10066790, 21620353	Standard	NM_004722		Approved	MU-ARP2, MU-4, SPG50	uc003utb.4	O00189	OTTHUMG00000154722	ENST00000359593.4:c.614T>A	chr7.hg19:g.99702504T>A	ENSP00000352603:p.Leu205Gln		D6W5U1|Q8WV65|Q9UHK9	Missense_Mutation	SNP	ENST00000359593.4	hg19	CCDS5685.1	.	.	.	.	.	.	.	.	.	.	T	14.92	2.679179	0.47886	.	.	ENSG00000221838	ENST00000438383;ENST00000429084;ENST00000359593;ENST00000439416;ENST00000421755;ENST00000422582	T;T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86;1.86	4.53	2.09	0.27110	Clathrin adaptor, mu subunit, C-terminal (3);	0.158542	0.42548	D	0.000695	T	0.30510	0.0767	L	0.49350	1.555	0.41749	D	0.989653	D;P;P;P	0.62365	0.991;0.792;0.76;0.466	P;B;P;P	0.54544	0.755;0.42;0.51;0.51	T	0.05869	-1.0859	10	0.87932	D	0	-40.5241	4.6856	0.12755	0.1682:0.0948:0.0:0.737	.	161;157;212;205	C9JMG3;B4DKN7;C9JC87;O00189	.;.;.;AP4M1_HUMAN	Q	137;212;205;161;205;77	ENSP00000401613:L137Q;ENSP00000403663:L212Q;ENSP00000352603:L205Q;ENSP00000414286:L161Q;ENSP00000412185:L205Q;ENSP00000406676:L77Q	ENSP00000352603:L205Q	L	+	2	0	AP4M1	99540440	1.000000	0.71417	0.278000	0.24718	0.652000	0.38707	3.109000	0.50345	0.245000	0.21373	0.459000	0.35465	CTG		0.567	AP4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336772.4	NM_004722		A	99702504	T	A	99702504	3	1	801	1	0	0	0	0	1	0	0	0	753	1580	55	5	644	5	AP4M1	7	99702504	Missense_Mutation	SNP	T	TCGA-UZ-A9PM-01A-21D-A382-10		99702504	59436159	21	47741											
ACHE	43	hgsc.bcm.edu	37	7	100488697	100488697	+	Intron	SNP	G	G	T			TCGA-UZ-A9PM-01A-21D-A382-10	TCGA-UZ-A9PM-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dfef537-01d1-4b16-a21d-4e9503040705	0ec588cf-97a6-49af-a772-c55a2af2cf9b	g.chr7:100488697G>T	ENST00000412389.1	-	3	1879				ACHE_ENST00000428317.1_Intron|ACHE_ENST00000419336.2_Intron|ACHE_ENST00000241069.5_Intron|ACHE_ENST00000411582.1_Missense_Mutation_p.P579H|UFSP1_ENST00000388761.2_5'Flank|ACHE_ENST00000302913.4_Missense_Mutation_p.P579H			P22303	ACES_HUMAN	acetylcholinesterase (Yt blood group)						acetylcholine catabolic process (GO:0006581)|acetylcholine catabolic process in synaptic cleft (GO:0001507)|amyloid precursor protein metabolic process (GO:0042982)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|choline metabolic process (GO:0019695)|DNA replication (GO:0006260)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|negative regulation of synaptic transmission, cholinergic (GO:0032223)|nervous system development (GO:0007399)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter receptor biosynthetic process (GO:0045212)|osteoblast development (GO:0002076)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of protein secretion (GO:0050714)|protein tetramerization (GO:0051262)|receptor internalization (GO:0031623)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of receptor recycling (GO:0001919)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|cholinesterase activity (GO:0004104)|collagen binding (GO:0005518)|hydrolase activity (GO:0016787)|laminin binding (GO:0043236)|protein homodimerization activity (GO:0042803)|serine hydrolase activity (GO:0017171)			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium(DB00944)|Dipivefrin(DB00449)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Minaprine(DB00805)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pralidoxime(DB00733)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tubocurarine(DB01199)	GCAGGTGCTGGGAGCCTCCGA	0.711																																																0													6	6	6					7																	100488697		2052	4096	6148	SO:0001627	intron_variant	43				CCDS5709.1, CCDS5710.1, CCDS64736.1	7q22	2014-07-19	2014-01-02		ENSG00000087085	ENSG00000087085	3.1.1.7	"Blood group antigens"	108	protein-coding gene	gene with protein product	"Yt blood group"	100740	"acetylcholinesterase (YT blood group)", "acetylcholinesterase (Yt blood group)", "acetylcholinesterase"	YT		1380483	Standard	XM_005250357		Approved		uc003uxe.3	P22303	OTTHUMG00000157033	ENST00000412389.1:c.1723+92C>A	chr7.hg19:g.100488697G>T			A4D2E2|B7ZKZ0|D6W5X7|Q16169|Q29S23|Q2M324|Q504V3|Q53F46|Q86TM9|Q86YX9|Q9BXP7	Missense_Mutation	SNP	ENST00000412389.1	hg19	CCDS5709.1	.	.	.	.	.	.	.	.	.	.	G	18.03	3.531760	0.64972	.	.	ENSG00000087085	ENST00000302913;ENST00000411582	T;T	0.66638	-0.22;-0.22	4.33	4.33	0.51752	.	.	.	.	.	T	0.55909	0.1950	N	0.08118	0	0.23238	N	0.998064	D	0.58268	0.982	P	0.50490	0.642	T	0.52426	-0.8577	9	0.62326	D	0.03	.	12.6808	0.56920	0.0:0.0:1.0:0.0	.	579	P22303-2	.	H	579	ENSP00000303211:P579H;ENSP00000404865:P579H	ENSP00000303211:P579H	P	-	2	0	ACHE	100326633	1.000000	0.71417	0.993000	0.49108	0.842000	0.47809	2.750000	0.47500	2.117000	0.64856	0.448000	0.29417	CCC		0.711	ACHE-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347201.1	NM_015831		T	100488697	G	T	100488697	1	4	801	0	1	0	0	0	0	0	0	0	141	1232	43	4		4	ACHE	7	100488697	Intron	SNP	G	TCGA-UZ-A9PM-01A-21D-A382-10	786193	100488697	58649966	22	47742											
CUX1	1523	hgsc.bcm.edu	37	7	101882669	101882669	+	Missense_Mutation	SNP	A	A	C			TCGA-UZ-A9PM-01A-21D-A382-10	TCGA-UZ-A9PM-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dfef537-01d1-4b16-a21d-4e9503040705	0ec588cf-97a6-49af-a772-c55a2af2cf9b	g.chr7:101882669A>C	ENST00000292535.7	+	23	3730	c.3692A>C	c.(3691-3693)gAg>gCg	p.E1231A	CUX1_ENST00000360264.3_Missense_Mutation_p.E1242A|CUX1_ENST00000556210.1_Missense_Mutation_p.E1073A|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000292538.4_Intron|AC005088.1_ENST00000580604.1_RNA|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000550008.2_Missense_Mutation_p.E1175A|CUX1_ENST00000546411.2_Missense_Mutation_p.E1129A|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000549414.2_Missense_Mutation_p.E1209A|CUX1_ENST00000560541.1_Intron	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	1231					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						GTCGGCACCGAGTACAGCCAG	0.647																																																0													26	29	28					7																	101882669		2203	4300	6503	SO:0001583	missense	1523			M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"Homeoboxes / CUT class"	2557	protein-coding gene	gene with protein product	"golgi integral membrane protein 6"	116896	"cut (Drosophila)-like 1 (CCAAT displacement protein)", "cut-like 1, CCAAT displacement protein (Drosophila)"	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.3692A>C	chr7.hg19:g.101882669A>C	ENSP00000292535:p.Glu1231Ala		B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	hg19	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	A	16.06	3.015092	0.54468	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T	0.62639	0.01;0.02;0.01;0.01;0.01;0.02	5.04	5.04	0.67666	.	0.168540	0.50627	D	0.000107	T	0.48714	0.1515	N	0.19112	0.55	0.80722	D	1	B;B	0.22211	0.039;0.066	B;B	0.20767	0.008;0.031	T	0.47249	-0.9132	10	0.51188	T	0.08	-14.4248	14.7647	0.69629	1.0:0.0:0.0:0.0	.	1231;1242	P39880;P39880-3	CUX1_HUMAN;.	A	1242;1231;1209;1175;1129;1073	ENSP00000353401:E1242A;ENSP00000292535:E1231A;ENSP00000446630:E1209A;ENSP00000447373:E1175A;ENSP00000450125:E1129A;ENSP00000451558:E1073A	ENSP00000292535:E1231A	E	+	2	0	CUX1	101669389	1.000000	0.71417	0.988000	0.46212	0.885000	0.51271	7.431000	0.80335	1.902000	0.55061	0.459000	0.35465	GAG		0.647	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		C	101882669	A	C	101882669	3	2	801	1	0	0	0	0	1	0	0	0	4066	304	11	5	3849	5	CUX1	7	101882669	Missense_Mutation	SNP	A	TCGA-UZ-A9PM-01A-21D-A382-10	1393972	101882669	57255994	23	47743											
EFCAB1	79645	hgsc.bcm.edu	37	8	49644024	49644024	+	Missense_Mutation	SNP	A	A	T	rs201126478		TCGA-UZ-A9PM-01A-21D-A382-10	TCGA-UZ-A9PM-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dfef537-01d1-4b16-a21d-4e9503040705	0ec588cf-97a6-49af-a772-c55a2af2cf9b	g.chr8:49644024A>T	ENST00000262103.3	-	2	177	c.97T>A	c.(97-99)Tat>Aat	p.Y33N	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	33							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)				ACCAAGTCATAAAAAAGCTTT	0.328																																																0													77	73	75					8																	49644024		2203	4300	6503	SO:0001583	missense	79645				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.97T>A	chr8.hg19:g.49644024A>T	ENSP00000262103:p.Tyr33Asn		B4DSB4|E7EVN7	Missense_Mutation	SNP	ENST00000262103.3	hg19	CCDS6145.1	.	.	.	.	.	.	.	.	.	.	A	1.323	-0.598936	0.03744	.	.	ENSG00000034239	ENST00000262103;ENST00000450553	T	0.66638	-0.22	4.77	3.61	0.41365	EF-hand-like domain (1);	0.212638	0.48767	D	0.000174	T	0.44371	0.1290	N	0.17082	0.46	0.36437	D	0.865288	B	0.06786	0.001	B	0.04013	0.001	T	0.36792	-0.9733	10	0.24483	T	0.36	.	6.1507	0.20310	0.8034:0.0:0.1966:0.0	.	33	Q9HAE3	EFCB1_HUMAN	N	33	ENSP00000262103:Y33N	ENSP00000262103:Y33N	Y	-	1	0	EFCAB1	49806577	1.000000	0.71417	0.810000	0.32431	0.051000	0.14879	2.404000	0.44539	0.957000	0.37930	0.528000	0.53228	TAT		0.328	EFCAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377778.1	NM_024593		T	49644024	A	T	49644024	3	4	801	1	0	0	0	0	1	0	0	0	4935	362	13	5	558	5	EFCAB1	8	49644024	Missense_Mutation	SNP	A	TCGA-UZ-A9PM-01A-21D-A382-10		49644024	96719998	24	47744											
TMEM65	157378	hgsc.bcm.edu	37	8	125335567	125335567	+	Missense_Mutation	SNP	A	A	G			TCGA-UZ-A9PM-01A-21D-A382-10	TCGA-UZ-A9PM-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dfef537-01d1-4b16-a21d-4e9503040705	0ec588cf-97a6-49af-a772-c55a2af2cf9b	g.chr8:125335567A>G	ENST00000297632.6	-	4	1001	c.467T>C	c.(466-468)aTg>aCg	p.M156T		NM_194291.2	NP_919267.2	Q6PI78	TMM65_HUMAN	transmembrane protein 65	156						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)	6	Lung NSC(37;1.18e-11)|Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			AATACCTGCCATAGTTGAAAT	0.259																																																0													29	33	31					8																	125335567		2168	4228	6396	SO:0001583	missense	157378			BC032396	CCDS6348.1	8q24.13	2006-11-24			ENSG00000164983	ENSG00000164983			25203	protein-coding gene	gene with protein product						12477932	Standard	NM_194291		Approved		uc010mdl.3	Q6PI78	OTTHUMG00000165021	ENST00000297632.6:c.467T>C	chr8.hg19:g.125335567A>G	ENSP00000297632:p.Met156Thr		Q8N5G8|Q8WVK5	Missense_Mutation	SNP	ENST00000297632.6	hg19	CCDS6348.1	.	.	.	.	.	.	.	.	.	.	A	14.30	2.493605	0.44352	.	.	ENSG00000164983	ENST00000297632	T	0.56444	0.46	5.9	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.60932	0.2307	M	0.88450	2.955	0.54753	D	0.999989	B	0.18310	0.027	B	0.24701	0.055	T	0.62473	-0.6847	10	0.87932	D	0	.	11.9759	0.53091	0.9322:0.0:0.0678:0.0	.	156	Q6PI78	TMM65_HUMAN	T	156	ENSP00000297632:M156T	ENSP00000297632:M156T	M	-	2	0	TMEM65	125404748	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.854000	0.86942	1.054000	0.40438	0.472000	0.43445	ATG		0.259	TMEM65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381464.1	NM_194291		G	125335567	A	G	125335567	3	3	801	1	0	0	0	0	1	0	0	0	16199	217	8	3	271	3	TMEM65	8	125335567	Missense_Mutation	SNP	A	TCGA-UZ-A9PM-01A-21D-A382-10	75691543	125335567	21028455	25	47745											
COL27A1	85301	hgsc.bcm.edu	37	9	116931634	116931634	+	Missense_Mutation	SNP	C	C	T			TCGA-UZ-A9PM-01A-21D-A382-10	TCGA-UZ-A9PM-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dfef537-01d1-4b16-a21d-4e9503040705	0ec588cf-97a6-49af-a772-c55a2af2cf9b	g.chr9:116931634C>T	ENST00000356083.3	+	3	2190	c.1799C>T	c.(1798-1800)tCc>tTc	p.S600F		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	600	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						TTCCTGTCCTCCAGCCCCCGG	0.652																																																0													54	64	60					9																	116931634		2203	4300	6503	SO:0001583	missense	85301			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.1799C>T	chr9.hg19:g.116931634C>T	ENSP00000348385:p.Ser600Phe		Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	hg19	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.589711	0.46214	.	.	ENSG00000196739	ENST00000356083;ENST00000357257;ENST00000374106;ENST00000451716	D;D	0.91843	-2.63;-2.92	5.41	5.41	0.78517	.	.	.	.	.	D	0.93135	0.7814	L	0.32530	0.975	0.46678	D	0.999156	D;D	0.89917	0.997;1.0	D;D	0.80764	0.98;0.994	D	0.92621	0.6108	9	0.41790	T	0.15	.	14.6955	0.69118	0.0:1.0:0.0:0.0	.	600;547	Q8IZC6;Q5T1U7	CORA1_HUMAN;.	F	600;600;547;547	ENSP00000348385:S600F;ENSP00000391328:S547F	ENSP00000348385:S600F	S	+	2	0	COL27A1	115971455	1.000000	0.71417	0.999000	0.59377	0.929000	0.56500	3.639000	0.54339	2.537000	0.85549	0.563000	0.77884	TCC		0.652	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		T	116931634	C	T	116931634	3	4	801	1	0	0	0	0	1	0	0	0	3687	855	30	2	1809	2	COL27A1	9	116931634	Missense_Mutation	SNP	C	TCGA-UZ-A9PM-01A-21D-A382-10		116931634	24281797	26	47746											
C5	727	hgsc.bcm.edu	37	9	123738998	123738998	+	Missense_Mutation	SNP	C	C	T			TCGA-UZ-A9PM-01A-21D-A382-10	TCGA-UZ-A9PM-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dfef537-01d1-4b16-a21d-4e9503040705	0ec588cf-97a6-49af-a772-c55a2af2cf9b	g.chr9:123738998C>T	ENST00000223642.1	-	29	3873	c.3844G>A	c.(3844-3846)Ggt>Agt	p.G1282S		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1282					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)	TAAAAGCCACCTCCATACCTC	0.413																																																0													143	142	143					9																	123738998		2203	4300	6503	SO:0001583	missense	727			M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"Complement system", "Endogenous ligands"	1331	protein-coding gene	gene with protein product	"prepro-C5", "C5a anaphylatoxin"	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.3844G>A	chr9.hg19:g.123738998C>T	ENSP00000223642:p.Gly1282Ser		Q14CJ0|Q27I61	Missense_Mutation	SNP	ENST00000223642.1	hg19	CCDS6826.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.789232	0.90367	.	.	ENSG00000106804	ENST00000223642	T	0.66995	-0.24	5.38	5.38	0.77491	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.155990	0.56097	D	0.000025	D	0.87099	0.6093	H	0.94306	3.52	0.58432	D	0.999997	D	0.76494	0.999	D	0.79108	0.992	D	0.90526	0.4492	10	0.72032	D	0.01	.	18.1225	0.89576	0.0:1.0:0.0:0.0	.	1282	P01031	CO5_HUMAN	S	1282	ENSP00000223642:G1282S	ENSP00000223642:G1282S	G	-	1	0	C5	122778819	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	5.446000	0.66600	2.501000	0.84356	0.563000	0.77884	GGT		0.413	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	NM_001735		T	123738998	C	T	123738998	3	4	801	1	0	0	0	0	1	0	0	0	2282	681	24	2	1238	2	C5	9	123738998	Missense_Mutation	SNP	C	TCGA-UZ-A9PM-01A-21D-A382-10	6807364	123738998	17474433	27	47747											
ANK3	288	hgsc.bcm.edu	37	10	61956291	61956291	+	Silent	SNP	A	A	G			TCGA-UZ-A9PM-01A-21D-A382-10	TCGA-UZ-A9PM-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dfef537-01d1-4b16-a21d-4e9503040705	0ec588cf-97a6-49af-a772-c55a2af2cf9b	g.chr10:61956291A>G	ENST00000280772.2	-	15	1973	c.1782T>C	c.(1780-1782)gcT>gcC	p.A594A	ANK3_ENST00000503366.1_Silent_p.A577A|ANK3_ENST00000373827.2_Silent_p.A588A	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	594					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						TTACCTTCCCAGCAGCATCTG	0.433																																																0													73	66	69					10																	61956291		2203	4300	6503	SO:0001819	synonymous_variant	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.1782T>C	chr10.hg19:g.61956291A>G			B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	ENST00000280772.2	hg19	CCDS7258.1																																																																																				0.433	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		G	61956291	A	G	61956291	2	3	801	1	0	0	0	0	0	0	0	1	622	175	7	3		3	ANK3	10	61956291	Silent	SNP	A	TCGA-UZ-A9PM-01A-21D-A382-10		61956291	73578456	28	47748											
COX15	1355	hgsc.bcm.edu	37	10	101480822	101480822	+	Missense_Mutation	SNP	G	G	C			TCGA-UZ-A9PM-01A-21D-A382-10	TCGA-UZ-A9PM-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dfef537-01d1-4b16-a21d-4e9503040705	0ec588cf-97a6-49af-a772-c55a2af2cf9b	g.chr10:101480822G>C	ENST00000016171.5	-	6	804	c.754C>G	c.(754-756)Cct>Gct	p.P252A	CUTC_ENST00000493385.1_Intron|COX15_ENST00000370483.5_Missense_Mutation_p.P252A			Q7KZN9	COX15_HUMAN	cytochrome c oxidase assembly homolog 15 (yeast)	252					cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)|oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		TGGGTTTCAGGCAACTAAATA	0.433																																																0													95	82	86					10																	101480822		2203	4300	6503	SO:0001583	missense	1355			AF044323	CCDS7481.1, CCDS7482.1	10q24	2014-09-17	2012-10-15		ENSG00000014919	ENSG00000014919		"Mitochondrial respiratory chain complex assembly factors"	2263	protein-coding gene	gene with protein product		603646	"COX15 (yeast) homolog, cytochrome c oxidase assembly protein", "COX15 homolog, cytochrome c oxidase assembly protein (yeast)"			9878253	Standard	NM_078470		Approved		uc001kqb.4	Q7KZN9	OTTHUMG00000018893	ENST00000016171.5:c.754C>G	chr10.hg19:g.101480822G>C	ENSP00000016171:p.Pro252Ala		A8K6I9|O60556|O75878|Q5TD00|Q5TD01|Q7Z3Q3|Q9NTN0	Missense_Mutation	SNP	ENST00000016171.5	hg19	CCDS7482.1	.	.	.	.	.	.	.	.	.	.	G	4.012	-0.000496	0.07819	.	.	ENSG00000014919	ENST00000370483;ENST00000016171	D;D	0.81996	-1.56;-1.56	4.93	4.93	0.64822	.	0.232381	0.43747	D	0.000531	T	0.73410	0.3583	L	0.33189	0.99	0.50632	D	0.999881	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.002	T	0.68416	-0.5414	10	0.02654	T	1	-13.3644	18.1574	0.89696	0.0:0.0:1.0:0.0	.	252;252	Q7KZN9-2;Q7KZN9	.;COX15_HUMAN	A	252	ENSP00000359514:P252A;ENSP00000016171:P252A	ENSP00000016171:P252A	P	-	1	0	COX15	101470812	1.000000	0.71417	1.000000	0.80357	0.279000	0.26890	3.666000	0.54540	2.274000	0.75844	0.555000	0.69702	CCT		0.433	COX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049818.1	NP_510870		C	101480822	G	C	101480822	3	2	801	1	0	0	0	0	1	0	0	0	3766	1203	42	4	564	4	COX15	10	101480822	Missense_Mutation	SNP	G	TCGA-UZ-A9PM-01A-21D-A382-10	39524531	101480822	34053925	29	47749											
GDPD5	81544	hgsc.bcm.edu	37	11	75160942	75160942	+	Silent	SNP	C	C	A			TCGA-UZ-A9PM-01A-21D-A382-10	TCGA-UZ-A9PM-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dfef537-01d1-4b16-a21d-4e9503040705	0ec588cf-97a6-49af-a772-c55a2af2cf9b	g.chr11:75160942C>A	ENST00000336898.3	-	7	1299	c.462G>T	c.(460-462)ctG>ctT	p.L154L	GDPD5_ENST00000376282.3_Intron|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000529721.1_Silent_p.L154L|GDPD5_ENST00000526177.1_Silent_p.L16L|GDPD5_ENST00000533805.1_5'UTR|GDPD5_ENST00000533784.1_Intron	NM_030792.6	NP_110419.5	Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	154					cerebral cortex neuron differentiation (GO:0021895)|glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)|negative regulation of Notch signaling pathway (GO:0045746)|neuron projection development (GO:0031175)|positive regulation of neuron differentiation (GO:0045666)|regulation of timing of cell differentiation (GO:0048505)|spinal cord motor neuron differentiation (GO:0021522)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						GCAGGGAGATCAGCAGCACCT	0.627																																																0													50	47	48					11																	75160942		2200	4293	6493	SO:0001819	synonymous_variant	81544			AF318377	CCDS8238.1	11q13.4-q13.5	2011-01-25				ENSG00000158555			28804	protein-coding gene	gene with protein product		609632				18667693, 17275818	Standard	NM_030792		Approved	PP1665, GDE2	uc001owp.4	Q8WTR4		ENST00000336898.3:c.462G>T	chr11.hg19:g.75160942C>A			Q49AQ5|Q6UX76|Q7Z4S0|Q8N781|Q8NCB7|Q8TB77	Silent	SNP	ENST00000336898.3	hg19	CCDS8238.1																																																																																				0.627	GDPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384409.1	NM_030792		A	75160942	C	A	75160942	2	1	801	1	0	0	0	0	0	0	0	1	6329	813	29	4		4	GDPD5	11	75160942	Silent	SNP	C	TCGA-UZ-A9PM-01A-21D-A382-10		75160942	59845574	30	47750											
LRP6	4040	hgsc.bcm.edu	37	12	12279762	12279762	+	Missense_Mutation	SNP	A	A	G	rs373215297		TCGA-UZ-A9PM-01A-21D-A382-10	TCGA-UZ-A9PM-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dfef537-01d1-4b16-a21d-4e9503040705	0ec588cf-97a6-49af-a772-c55a2af2cf9b	g.chr12:12279762A>G	ENST00000261349.4	-	20	4251	c.4175T>C	c.(4174-4176)tTt>tCt	p.F1392S	LRP6_ENST00000543091.1_Missense_Mutation_p.F1347S|BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000540415.1_Intron	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1392					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)				CTGGCAGATAAAGTATACAGT	0.438																																																0								A	SER/PHE	0,4406		0,0,2203	153	133	140		4175	5.7	1	12		140	1,8599	1.2+/-3.3	0,1,4299	no	missense	LRP6	NM_002336.2	155	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	probably-damaging	1392/1614	12279762	1,13005	2203	4300	6503	SO:0001583	missense	4040			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.4175T>C	chr12.hg19:g.12279762A>G	ENSP00000261349:p.Phe1392Ser		Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	hg19	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.721771	0.89298	0.0	1.16E-4	ENSG00000070018	ENST00000261349;ENST00000543091	T;T	0.39787	1.06;1.06	5.73	5.73	0.89815	.	0.000000	0.64402	D	0.000005	T	0.61173	0.2326	M	0.62723	1.935	0.80722	D	1	P;D	0.76494	0.95;0.999	P;D	0.87578	0.648;0.998	T	0.57081	-0.7872	10	0.26408	T	0.33	.	16.0143	0.80425	1.0:0.0:0.0:0.0	.	1347;1392	F5H7J9;O75581	.;LRP6_HUMAN	S	1392;1347	ENSP00000261349:F1392S;ENSP00000442472:F1347S	ENSP00000261349:F1392S	F	-	2	0	LRP6	12171029	1.000000	0.71417	0.996000	0.52242	0.963000	0.63663	8.870000	0.92336	2.174000	0.68829	0.460000	0.39030	TTT		0.438	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			G	12279762	A	G	12279762	3	3	801	1	0	0	0	0	1	0	0	0	8964	14	1	3	682	3	LRP6	12	12279762	Missense_Mutation	SNP	A	TCGA-UZ-A9PM-01A-21D-A382-10		12279762	121572133	31	47751											
RBMS2	5939	hgsc.bcm.edu	37	12	56975290	56975290	+	Missense_Mutation	SNP	A	A	G			TCGA-UZ-A9PM-01A-21D-A382-10	TCGA-UZ-A9PM-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dfef537-01d1-4b16-a21d-4e9503040705	0ec588cf-97a6-49af-a772-c55a2af2cf9b	g.chr12:56975290A>G	ENST00000262031.5	+	7	825	c.730A>G	c.(730-732)Atg>Gtg	p.M244V	RBMS2_ENST00000550726.1_Missense_Mutation_p.M119V|RBMS2_ENST00000552247.2_Missense_Mutation_p.M244V|RBMS2_ENST00000542360.1_Missense_Mutation_p.M99V	NM_002898.3	NP_002889.1	Q15434	RBMS2_HUMAN	RNA binding motif, single stranded interacting protein 2	244					RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1)	18						GAATGCAGACATGGTAAGAGG	0.468																																																0													51	45	47					12																	56975290		2203	4300	6503	SO:0001583	missense	5939			D28483	CCDS8923.1	12q13.13	2013-02-12			ENSG00000076067	ENSG00000076067		"RNA binding motif (RRM) containing"	9909	protein-coding gene	gene with protein product		602387				8041632	Standard	NM_002898		Approved	SCR3	uc001sln.2	Q15434	OTTHUMG00000170488	ENST00000262031.5:c.730A>G	chr12.hg19:g.56975290A>G	ENSP00000262031:p.Met244Val			Missense_Mutation	SNP	ENST00000262031.5	hg19	CCDS8923.1	.	.	.	.	.	.	.	.	.	.	A	9.246	1.039458	0.19669	.	.	ENSG00000076067	ENST00000262031;ENST00000552247;ENST00000550726;ENST00000542360	T;T;T	0.19938	2.84;2.75;2.11	5.21	1.4	0.22301	.	0.291510	0.31577	N	0.007408	T	0.10637	0.0260	L	0.27053	0.805	0.26901	N	0.967112	B;B;B	0.24675	0.035;0.0;0.109	B;B;B	0.20767	0.013;0.004;0.031	T	0.30563	-0.9974	10	0.14252	T	0.57	.	5.7609	0.18199	0.7203:0.0:0.1514:0.1282	.	99;119;244	F5H5C8;F8VV01;Q15434	.;.;RBMS2_HUMAN	V	244;244;119;99	ENSP00000262031:M244V;ENSP00000447426:M244V;ENSP00000449678:M119V	ENSP00000262031:M244V	M	+	1	0	RBMS2	55261557	0.853000	0.29707	1.000000	0.80357	0.993000	0.82548	1.763000	0.38461	0.363000	0.24346	0.533000	0.62120	ATG		0.468	RBMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409366.2	NM_002898		G	56975290	A	G	56975290	3	3	801	1	0	0	0	0	1	0	0	0	13155	217	8	3	756	3	RBMS2	12	56975290	Missense_Mutation	SNP	A	TCGA-UZ-A9PM-01A-21D-A382-10	44695528	56975290	76876605	32	47752											
BEST3	144453	hgsc.bcm.edu	37	12	70072597	70072597	+	Silent	SNP	G	G	A			TCGA-UZ-A9PM-01A-21D-A382-10	TCGA-UZ-A9PM-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dfef537-01d1-4b16-a21d-4e9503040705	0ec588cf-97a6-49af-a772-c55a2af2cf9b	g.chr12:70072597G>A	ENST00000330891.5	-	5	784	c.558C>T	c.(556-558)atC>atT	p.I186I	BEST3_ENST00000476098.1_Silent_p.I24I|BEST3_ENST00000553096.1_Silent_p.I80I|BEST3_ENST00000488961.1_Silent_p.I24I|BEST3_ENST00000331471.4_Silent_p.I186I	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	186					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)			TTCCAAACCAGATGAATGGAA	0.343																																																0													112	105	107					12																	70072597		1870	4104	5974	SO:0001819	synonymous_variant	144453			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.558C>T	chr12.hg19:g.70072597G>A			B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Silent	SNP	ENST00000330891.5	hg19	CCDS8992.2																																																																																				0.343	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313908.2	NM_152439		A	70072597	G	A	70072597	2	1	801	1	0	0	0	0	0	0	0	1	1406	932	33	2		2	BEST3	12	70072597	Silent	SNP	G	TCGA-UZ-A9PM-01A-21D-A382-10	13097307	70072597	63779298	33	47753											
GIT2	9815	hgsc.bcm.edu	37	12	110403363	110403363	+	Silent	SNP	A	A	G	rs570446364		TCGA-UZ-A9PM-01A-21D-A382-10	TCGA-UZ-A9PM-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dfef537-01d1-4b16-a21d-4e9503040705	0ec588cf-97a6-49af-a772-c55a2af2cf9b	g.chr12:110403363A>G	ENST00000355312.3	-	9	783	c.784T>C	c.(784-786)Ttg>Ctg	p.L262L	GIT2_ENST00000547815.1_Silent_p.L262L|GIT2_ENST00000356259.4_Silent_p.L262L|GIT2_ENST00000320063.9_Silent_p.L262L|GIT2_ENST00000553118.1_Silent_p.L262L|TCHP_ENST00000550780.1_Intron|GIT2_ENST00000343646.5_Silent_p.L262L|GIT2_ENST00000338373.5_Silent_p.L262L|GIT2_ENST00000354574.4_Silent_p.L264L|GIT2_ENST00000551209.1_Silent_p.L261L|GIT2_ENST00000361006.5_Silent_p.L262L|GIT2_ENST00000360185.4_Silent_p.L262L|GIT2_ENST00000457474.2_Silent_p.L264L	NM_057169.3	NP_476510.1	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	262					behavioral response to pain (GO:0048266)|regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						GCTTTTGCCAATTCAGACAAA	0.378													A|||	1	0.000199681	0.0	0.0	5008	,	,		19792	0.0		0.0	False		,,,				2504	0.001															0													56	54	55					12																	110403363		2202	4299	6501	SO:0001819	synonymous_variant	9815			AF124491	CCDS9138.1, CCDS9139.1, CCDS44968.1, CCDS44969.1, CCDS55884.1	12q24.1	2013-01-10	2008-09-05			ENSG00000139436		"ADP-ribosylation factor GTPase activating proteins", "Ankyrin repeat domain containing"	4273	protein-coding gene	gene with protein product		608564	"G protein-coupled receptor kinase interactor 2"			9826657, 10896954	Standard	NM_139201		Approved	KIAA0148	uc001tps.2	Q14161	OTTHUMG00000169313	ENST00000355312.3:c.784T>C	chr12.hg19:g.110403363A>G			Q86U59|Q96CI2|Q9BV91|Q9Y5V2	Silent	SNP	ENST00000355312.3	hg19	CCDS9138.1																																																																																				0.378	GIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403407.1	NM_057169		G	110403363	A	G	110403363	2	3	801	1	0	0	0	0	0	0	0	1	6399	98	4	3		3	GIT2	12	110403363	Silent	SNP	A	TCGA-UZ-A9PM-01A-21D-A382-10	40330766	110403363	23448532	34	47754											
ZIC2	7546	hgsc.bcm.edu	37	13	100637680	100637680	+	Missense_Mutation	SNP	A	A	G			TCGA-UZ-A9PM-01A-21D-A382-10	TCGA-UZ-A9PM-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dfef537-01d1-4b16-a21d-4e9503040705	0ec588cf-97a6-49af-a772-c55a2af2cf9b	g.chr13:100637680A>G	ENST00000376335.3	+	3	1636	c.1343A>G	c.(1342-1344)cAg>cGg	p.Q448R	ZIC2_ENST00000477213.1_3'UTR	NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	448					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)					GCCGAGCCCCAGAGCAGCTCC	0.786																																					Pancreas(97;119 1522 31925 44771 48764)											0													7	9	9					13																	100637680		1854	4010	5864	SO:0001583	missense	7546			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.1343A>G	chr13.hg19:g.100637680A>G	ENSP00000365514:p.Gln448Arg		Q5VYA9|Q9H309	Missense_Mutation	SNP	ENST00000376335.3	hg19	CCDS9495.1	.	.	.	.	.	.	.	.	.	.	A	1.938	-0.444304	0.04604	.	.	ENSG00000043355	ENST00000376335	T	0.66638	-0.22	3.33	2.14	0.27477	.	0.199334	0.43919	N	0.000508	T	0.52224	0.1721	L	0.46157	1.445	0.49687	D	0.999818	B	0.02656	0.0	B	0.01281	0.0	T	0.34254	-0.9836	10	0.17832	T	0.49	.	7.3557	0.26717	0.8867:0.0:0.1133:0.0	.	448	O95409	ZIC2_HUMAN	R	448	ENSP00000365514:Q448R	ENSP00000365514:Q448R	Q	+	2	0	ZIC2	99435681	1.000000	0.71417	0.998000	0.56505	0.311000	0.27955	3.628000	0.54259	0.466000	0.27193	0.260000	0.18958	CAG		0.786	ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045618.2	NM_007129		G	100637680	A	G	100637680	3	3	801	1	0	0	0	0	1	0	0	0	17684	188	7	3	1353	3	ZIC2	13	100637680	Missense_Mutation	SNP	A	TCGA-UZ-A9PM-01A-21D-A382-10		100637680	14532198	35	47755											
NEO1	4756	hgsc.bcm.edu	37	15	73562439	73562439	+	Missense_Mutation	SNP	G	G	C			TCGA-UZ-A9PM-01A-21D-A382-10	TCGA-UZ-A9PM-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dfef537-01d1-4b16-a21d-4e9503040705	0ec588cf-97a6-49af-a772-c55a2af2cf9b	g.chr15:73562439G>C	ENST00000339362.5	+	18	3030	c.2583G>C	c.(2581-2583)caG>caC	p.Q861H	NEO1_ENST00000560262.1_Missense_Mutation_p.Q861H|NEO1_ENST00000261908.6_Missense_Mutation_p.Q861H|NEO1_ENST00000558964.1_Missense_Mutation_p.Q861H			Q92859	NEO1_HUMAN	neogenin 1	861	Fibronectin type-III 5. {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						TGGGAGTTCAGGCTTCCATTC	0.483																																																0													169	177	174					15																	73562439		2198	4297	6495	SO:0001583	missense	4756			U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7754	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 2"	601907	"neogenin (chicken) homolog 1"			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.2583G>C	chr15.hg19:g.73562439G>C	ENSP00000341198:p.Gln861His		B7ZKM9|B7ZKN0|O00340|Q17RX1	Missense_Mutation	SNP	ENST00000339362.5	hg19	CCDS10247.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.152137	0.78001	.	.	ENSG00000067141	ENST00000339362;ENST00000379842;ENST00000261908	T;T	0.57107	0.42;0.42	5.41	5.41	0.78517	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.68174	0.2972	M	0.65320	2	0.80722	D	1	D;D;D;D	0.89917	0.999;0.992;0.996;1.0	D;D;D;D	0.85130	0.997;0.96;0.98;0.984	T	0.67503	-0.5654	10	0.48119	T	0.1	-10.4247	12.8567	0.57890	0.0749:0.0:0.9251:0.0	.	861;861;583;861	B7ZKM9;B7ZKN0;E7EUX3;Q92859	.;.;.;NEO1_HUMAN	H	861;583;861	ENSP00000341198:Q861H;ENSP00000261908:Q861H	ENSP00000261908:Q861H	Q	+	3	2	NEO1	71349492	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.773000	0.75006	2.697000	0.92050	0.563000	0.77884	CAG		0.483	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	NM_002499		C	73562439	G	C	73562439	3	2	801	1	0	0	0	0	1	0	0	0	10338	991	35	4	2649	4	NEO1	15	73562439	Missense_Mutation	SNP	G	TCGA-UZ-A9PM-01A-21D-A382-10		73562439	28968953	36	47756											
TBC1D2B	23102	hgsc.bcm.edu	37	15	78316564	78316564	+	Silent	SNP	G	G	T	rs527349478		TCGA-UZ-A9PM-01A-21D-A382-10	TCGA-UZ-A9PM-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dfef537-01d1-4b16-a21d-4e9503040705	0ec588cf-97a6-49af-a772-c55a2af2cf9b	g.chr15:78316564G>T	ENST00000300584.3	-	6	1403	c.1404C>A	c.(1402-1404)acC>acA	p.T468T	TBC1D2B_ENST00000409931.3_Silent_p.T468T	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	468							Rab GTPase activator activity (GO:0005097)			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						TGGGCGCCACGGTGGGAGGAG	0.617																																																0													63	51	55					15																	78316564		2196	4293	6489	SO:0001819	synonymous_variant	23102			AB028978	CCDS32301.2, CCDS45314.1	15q24.3-q25.1	2005-11-29			ENSG00000167202	ENSG00000167202			29183	protein-coding gene	gene with protein product						10470851	Standard	NM_015079		Approved	KIAA1055	uc002bcy.4	Q9UPU7	OTTHUMG00000152885	ENST00000300584.3:c.1404C>A	chr15.hg19:g.78316564G>T			A7MD42|Q8N1F9|Q9NXM0	Silent	SNP	ENST00000300584.3	hg19	CCDS45314.1	.	.	.	.	.	.	.	.	.	.	G	3.403	-0.121820	0.06838	.	.	ENSG00000167202	ENST00000418039	.	.	.	4.28	-8.56	0.00904	.	.	.	.	.	T	0.14141	0.0342	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.18398	-1.0338	4	.	.	.	.	0.2637	0.00222	0.3539:0.1785:0.2125:0.2551	.	.	.	.	Q	350	.	.	P	-	2	0	TBC1D2B	76103619	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.300000	0.02751	-2.233000	0.00716	-2.916000	0.00090	CCG		0.617	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328369.3	NM_015079		T	78316564	G	T	78316564	2	4	801	1	0	0	0	0	0	0	0	1	15624	1103	39	4		4	TBC1D2B	15	78316564	Silent	SNP	G	TCGA-UZ-A9PM-01A-21D-A382-10	4754125	78316564	24214828	37	47757											
C16orf62	57020	hgsc.bcm.edu	37	16	19576253	19576253	+	Missense_Mutation	SNP	A	A	G			TCGA-UZ-A9PM-01A-21D-A382-10	TCGA-UZ-A9PM-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dfef537-01d1-4b16-a21d-4e9503040705	0ec588cf-97a6-49af-a772-c55a2af2cf9b	g.chr16:19576253A>G	ENST00000251143.5	+	2	110	c.98A>G	c.(97-99)cAc>cGc	p.H33R	C16orf62_ENST00000538853.1_Missense_Mutation_p.H122R|C16orf62_ENST00000417362.2_Missense_Mutation_p.H33R|C16orf62_ENST00000542263.1_Missense_Mutation_p.H122R|C16orf62_ENST00000438132.3_Missense_Mutation_p.H122R			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	33						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						GGGGACTATCACCCTCTGAAA	0.418																																																0													120	104	109					16																	19576253		2197	4300	6497	SO:0001583	missense	57020				CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.98A>G	chr16.hg19:g.19576253A>G	ENSP00000251143:p.His33Arg		A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Missense_Mutation	SNP	ENST00000251143.5	hg19		.	.	.	.	.	.	.	.	.	.	A	20.4	3.979057	0.74360	.	.	ENSG00000103544	ENST00000438132;ENST00000538853;ENST00000542263;ENST00000251143;ENST00000417362	T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;0.27	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.76126	0.3944	M	0.79011	2.435	0.80722	D	1	D;D;D	0.89917	0.96;0.996;1.0	D;D;D	0.83275	0.923;0.99;0.996	T	0.79155	-0.1920	10	0.62326	D	0.03	-29.32	14.632	0.68663	1.0:0.0:0.0:0.0	.	122;33;122	F5H7K1;Q7Z3J2;E7EWW0	.;CP062_HUMAN;.	R	122;122;122;33;33	ENSP00000400815:H122R;ENSP00000444363:H122R;ENSP00000442468:H122R;ENSP00000251143:H33R;ENSP00000395973:H33R	ENSP00000251143:H33R	H	+	2	0	C16orf62	19483754	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.725000	0.84808	2.056000	0.61249	0.374000	0.22700	CAC		0.418	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_020314		G	19576253	A	G	19576253	3	3	801	1	0	0	0	0	1	0	0	0	1827	159	6	3	104	3	C16orf62	16	19576253	Missense_Mutation	SNP	A	TCGA-UZ-A9PM-01A-21D-A382-10		19576253	70778500	38	47758											
ITGAD	3681	hgsc.bcm.edu	37	16	31424561	31424561	+	Missense_Mutation	SNP	C	C	A			TCGA-UZ-A9PM-01A-21D-A382-10	TCGA-UZ-A9PM-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dfef537-01d1-4b16-a21d-4e9503040705	0ec588cf-97a6-49af-a772-c55a2af2cf9b	g.chr16:31424561C>A	ENST00000389202.2	+	16	2039	c.1990C>A	c.(1990-1992)Cag>Aag	p.Q664K		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	664					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						CTCACTGGACCAGCTAGGTGT	0.597																																																0													79	74	76					16																	31424561		2197	4300	6497	SO:0001583	missense	3681			U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"CD molecules", "Integrins"	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.1990C>A	chr16.hg19:g.31424561C>A	ENSP00000373854:p.Gln664Lys		Q15575|Q15576	Missense_Mutation	SNP	ENST00000389202.2	hg19	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	C	4.269	0.048941	0.08243	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.45276	0.9	5.24	4.29	0.51040	Integrin alpha-2 (1);	.	.	.	.	T	0.32224	0.0822	L	0.46157	1.445	0.09310	N	1	B;B	0.16166	0.016;0.016	B;B	0.21360	0.034;0.034	T	0.33007	-0.9885	9	0.06494	T	0.89	.	9.7171	0.40281	0.0:0.904:0.0:0.096	.	680;664	Q59H14;Q13349	.;ITAD_HUMAN	K	680;664	ENSP00000373854:Q664K	ENSP00000373854:Q664K	Q	+	1	0	ITGAD	31332062	0.026000	0.19158	0.003000	0.11579	0.005000	0.04900	0.687000	0.25407	1.223000	0.43536	0.604000	0.83254	CAG		0.597	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		A	31424561	C	A	31424561	3	1	801	1	0	0	0	0	1	0	0	0	7886	595	21	4	2052	4	ITGAD	16	31424561	Missense_Mutation	SNP	C	TCGA-UZ-A9PM-01A-21D-A382-10	11848308	31424561	58930192	39	47759											
ZNF423	23090	hgsc.bcm.edu	37	16	49764694	49764694	+	Missense_Mutation	SNP	G	G	A	rs146233664		TCGA-UZ-A9PM-01A-21D-A382-10	TCGA-UZ-A9PM-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dfef537-01d1-4b16-a21d-4e9503040705	0ec588cf-97a6-49af-a772-c55a2af2cf9b	g.chr16:49764694G>A	ENST00000561648.1	-	3	318	c.265C>T	c.(265-267)Cgc>Tgc	p.R89C	ZNF423_ENST00000562520.1_Missense_Mutation_p.R29C|ZNF423_ENST00000262383.2_Missense_Mutation_p.R89C|ZNF423_ENST00000563137.2_Missense_Mutation_p.R29C|ZNF423_ENST00000562871.1_Missense_Mutation_p.R29C	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	89					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)				CCAGGACAGCGGTGGGCCCGG	0.517																																																0								G	CYS/ARG	0,4396		0,0,2198	158	136	143		265	5.2	1	16	dbSNP_134	143	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF423	NM_015069.2	180	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	89/1285	49764694	1,12995	2198	4300	6498	SO:0001583	missense	23090			AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"Zinc fingers, C2H2-type"	16762	protein-coding gene	gene with protein product	"OLF-1/EBF associated zinc finger gene", " Smad- and Olf-interacting zinc finger protein", "early B-cell factor associated zinc finger protein"	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.265C>T	chr16.hg19:g.49764694G>A	ENSP00000455426:p.Arg89Cys		O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	hg19	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.860384	0.51482	0.0	1.16E-4	ENSG00000102935	ENST00000262383	T	0.29917	1.55	5.15	5.15	0.70609	.	0.199102	0.43416	D	0.000570	T	0.23330	0.0564	N	0.08118	0	0.40060	D	0.975881	P	0.49253	0.921	P	0.49301	0.606	T	0.06391	-1.0829	9	.	.	.	.	14.4984	0.67704	0.0:0.0:0.7833:0.2167	.	89	Q2M1K9	ZN423_HUMAN	C	89	ENSP00000262383:R89C	.	R	-	1	0	ZNF423	48322195	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.272000	0.58908	2.558000	0.86282	0.313000	0.20887	CGC		0.517	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		A	49764694	G	A	49764694	3	1	801	1	0	0	0	0	1	0	0	0	17903	1116	39	1	3613	1	ZNF423	16	49764694	Missense_Mutation	SNP	G	TCGA-UZ-A9PM-01A-21D-A382-10	18340133	49764694	40590059	40	47760											
POLR2C	5432	hgsc.bcm.edu	37	16	57499934	57499934	+	Splice_Site	SNP	G	G	C			TCGA-UZ-A9PM-01A-21D-A382-10	TCGA-UZ-A9PM-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dfef537-01d1-4b16-a21d-4e9503040705	0ec588cf-97a6-49af-a772-c55a2af2cf9b	g.chr16:57499934G>C	ENST00000219252.5	+	3	543		c.e3+1		POLR2C_ENST00000564651.1_Splice_Site	NM_032940.2	NP_116558.1	P19387	RPB3_HUMAN	polymerase (RNA) II (DNA directed) polypeptide C, 33kDa						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						CACAGGCTTGGTGAGTACTCC	0.478																																																0													151	144	147					16																	57499934		2198	4300	6498	SO:0001630	splice_region_variant	5432				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.205+1G>C	chr16.hg19:g.57499934G>C			O15161	Splice_Site	SNP	ENST00000219252.5	hg19	CCDS10782.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.053137	0.75960	.	.	ENSG00000102978	ENST00000219252	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3397	0.90300	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	POLR2C	56057435	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	9.869000	0.99810	2.593000	0.87608	0.561000	0.74099	.		0.478	POLR2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257340.3	NM_032940	Intron	C	57499934	G	C	57499934	5	2	801	1	0	0	0	0	0	0	1	0	12218	1275	44	4	216	4	POLR2C	16	57499934	Splice_Site	SNP	G	TCGA-UZ-A9PM-01A-21D-A382-10	7735240	57499934	32854819	41	47761											
C17orf104	284071	hgsc.bcm.edu	37	17	42744973	42744973	+	Missense_Mutation	SNP	T	T	C			TCGA-UZ-A9PM-01A-21D-A382-10	TCGA-UZ-A9PM-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dfef537-01d1-4b16-a21d-4e9503040705	0ec588cf-97a6-49af-a772-c55a2af2cf9b	g.chr17:42744973T>C	ENST00000409122.2	+	5	1836	c.1694T>C	c.(1693-1695)cTa>cCa	p.L565P	C17orf104_ENST00000409464.1_Missense_Mutation_p.L399P|C17orf104_ENST00000359945.3_Missense_Mutation_p.L565P	NM_001145080.2	NP_001138552.2	A2RUB1	CQ104_HUMAN	chromosome 17 open reading frame 104	565										autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						ATAGAAGGACTAACAAAGCCT	0.348																																																0													29	31	30					17																	42744973		2200	4297	6497	SO:0001583	missense	284071				CCDS45703.1, CCDS45703.2	17q21.31	2009-09-08			ENSG00000180336	ENSG00000180336			26670	protein-coding gene	gene with protein product							Standard	NM_001145080		Approved	FLJ35848	uc002iha.3	A2RUB1	OTTHUMG00000153039	ENST00000409122.2:c.1694T>C	chr17.hg19:g.42744973T>C	ENSP00000386452:p.Leu565Pro		B4DXJ2|B5MD93|B9EGQ6|C4AM97|Q4G0Y1|Q8IVZ7|Q8NA45	Missense_Mutation	SNP	ENST00000409122.2	hg19	CCDS45703.2	.	.	.	.	.	.	.	.	.	.	T	11.86	1.763636	0.31228	.	.	ENSG00000180336	ENST00000359945;ENST00000409122;ENST00000409464	T;T;T	0.37411	1.2;1.2;1.22	5.66	4.51	0.55191	.	0.136458	0.33753	N	0.004589	T	0.44414	0.1292	L	0.34521	1.04	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.71656	0.974;0.974;0.974	T	0.29701	-1.0003	10	0.44086	T	0.13	-19.4828	9.8411	0.40999	0.2645:0.0:0.0:0.7355	.	565;565;399	A2RUB1-5;A2RUB1;A2RUB1-1	.;CQ104_HUMAN;.	P	565;565;399	ENSP00000353028:L565P;ENSP00000386452:L565P;ENSP00000386586:L399P	ENSP00000353028:L565P	L	+	2	0	C17orf104	40100499	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	1.526000	0.35964	2.151000	0.67156	0.533000	0.62120	CTA		0.348	C17orf104-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329171.2	NM_001145080		C	42744973	T	C	42744973	3	2	801	1	0	0	0	0	1	0	0	0	1853	1522	53	3	1712	3	C17orf104	17	42744973	Missense_Mutation	SNP	T	TCGA-UZ-A9PM-01A-21D-A382-10		42744973	38450237	42	47762											
SETBP1	26040	hgsc.bcm.edu	37	18	42643077	42643077	+	Frame_Shift_Del	DEL	G	G	-	rs371946489		TCGA-UZ-A9PM-01A-21D-A382-10	TCGA-UZ-A9PM-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dfef537-01d1-4b16-a21d-4e9503040705	0ec588cf-97a6-49af-a772-c55a2af2cf9b	g.chr18:42643077delG	ENST00000282030.5	+	6	4501	c.4205delG	c.(4204-4206)cggfs	p.R1402fs		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1402						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)		TTCAAGCGGCGGGAGATCGAA	0.537									Schinzel-Giedion syndrome																																							0													49	48	48					18																	42643077		2203	4300	6503	SO:0001589	frameshift_variant	26040	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.4205delG	chr18.hg19:g.42643077delG	ENSP00000282030:p.Arg1402fs		A6H8W5|Q6P6C3|Q9UEF3	Frame_Shift_Del	DEL	ENST00000282030.5	hg19	CCDS11923.2																																																																																				0.537	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		-	42643077	G	-	42643077	7	5	801	1	0	1	0	1	0	0	0	0	14135	1116	39	0	4416	0	SETBP1	18	42643077	Frame_Shift_Del	DEL	G	TCGA-UZ-A9PM-01A-21D-A382-10		42643077	35434171	43	47763											
MUC16	94025	hgsc.bcm.edu	37	19	9075997	9075997	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9PM-01A-21D-A382-10	TCGA-UZ-A9PM-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dfef537-01d1-4b16-a21d-4e9503040705	0ec588cf-97a6-49af-a772-c55a2af2cf9b	g.chr19:9075997G>A	ENST00000397910.4	-	3	11652	c.11449C>T	c.(11449-11451)Ctt>Ttt	p.L3817F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3818	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						GTGGTGGGAAGCTGAGTGGAA	0.507																																																0													230	219	223					19																	9075997		2074	4222	6296	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.11449C>T	chr19.hg19:g.9075997G>A	ENSP00000381008:p.Leu3817Phe		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	hg19	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	4.495	0.091754	0.08632	.	.	ENSG00000181143	ENST00000397910	T	0.03124	4.04	1.74	-0.625	0.11548	.	.	.	.	.	T	0.02083	0.0065	N	0.08118	0	.	.	.	B	0.31383	0.321	B	0.34301	0.179	T	0.43669	-0.9377	8	0.87932	D	0	.	2.8375	0.05519	0.2006:0.3036:0.4958:0.0	.	3817	B5ME49	.	F	3817	ENSP00000381008:L3817F	ENSP00000381008:L3817F	L	-	1	0	MUC16	8936997	0.000000	0.05858	0.001000	0.08648	0.231000	0.25187	-1.717000	0.01876	-0.091000	0.12440	0.313000	0.20887	CTT		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	9075997	G	A	9075997	3	1	801	1	0	0	0	0	1	0	0	0	9975	971	34	2	32402	2	MUC16	19	9075997	Missense_Mutation	SNP	G	TCGA-UZ-A9PM-01A-21D-A382-10		9075997	50052986	44	47764											
ZNF493	284443	hgsc.bcm.edu	37	19	21607521	21607521	+	Missense_Mutation	SNP	G	G	T			TCGA-UZ-A9PM-01A-21D-A382-10	TCGA-UZ-A9PM-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dfef537-01d1-4b16-a21d-4e9503040705	0ec588cf-97a6-49af-a772-c55a2af2cf9b	g.chr19:21607521G>T	ENST00000355504.4	+	2	1942	c.1676G>T	c.(1675-1677)tGt>tTt	p.C559F	ZNF493_ENST00000392288.2_Missense_Mutation_p.C687F|CTD-2561J22.3_ENST00000600810.1_Intron	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	559					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						CCCTACAAATGTGAAAAATGT	0.343																																																0													33	37	35					19																	21607521		2202	4296	6498	SO:0001583	missense	284443			AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"Zinc fingers, C2H2-type", "-"	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.1676G>T	chr19.hg19:g.21607521G>T	ENSP00000347691:p.Cys559Phe		G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	ENST00000355504.4	hg19	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	13.82	2.349952	0.41599	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	D;D	0.85088	-1.94;-1.94	1.06	1.06	0.20224	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93271	0.7856	H	0.95437	3.67	0.80722	D	1	D;D	0.89917	1.0;0.997	D;P	0.85130	0.997;0.789	D	0.92138	0.5718	9	0.87932	D	0	.	8.9275	0.35650	0.0:0.0:1.0:0.0	.	559;687	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	F	687;559	ENSP00000376110:C687F;ENSP00000347691:C559F	ENSP00000347691:C559F	C	+	2	0	ZNF493	21399361	1.000000	0.71417	0.047000	0.18901	0.046000	0.14306	4.613000	0.61176	0.458000	0.26988	0.467000	0.42956	TGT		0.343	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		T	21607521	G	T	21607521	3	4	801	1	0	0	0	0	1	0	0	0	17949	1377	48	4	2137	4	ZNF493	19	21607521	Missense_Mutation	SNP	G	TCGA-UZ-A9PM-01A-21D-A382-10	12531524	21607521	37521462	45	47765											
ERCC2	2068	hgsc.bcm.edu	37	19	45867362	45867362	+	Silent	SNP	G	G	A	rs547544775		TCGA-UZ-A9PM-01A-21D-A382-10	TCGA-UZ-A9PM-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dfef537-01d1-4b16-a21d-4e9503040705	0ec588cf-97a6-49af-a772-c55a2af2cf9b	g.chr19:45867362G>A	ENST00000391945.4	-	10	908	c.831C>T	c.(829-831)gaC>gaT	p.D277D	ERCC2_ENST00000221481.6_3'UTR|ERCC2_ENST00000391940.4_Silent_p.D253D|ERCC2_ENST00000485403.2_Silent_p.D253D|ERCC2_ENST00000391944.3_Silent_p.D199D	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	277	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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)		GGCGCTGCTCGTCTGTCTCTT	0.721			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				G|||	1	0.000199681	0.0	0.0	5008	,	,		11449	0.0		0.0	False		,,,				2504	0.001					yes	Rec		Xeroderma pigmentosum (D)	19	19q13.2-q13.3	2068	"excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)"		E	0													8	11	10					19																	45867362		2115	4221	6336	SO:0001819	synonymous_variant	2068	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV		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.831C>T	chr19.hg19:g.45867362G>A			Q2TB78|Q2YDY2|Q7KZU6|Q8N721	Silent	SNP	ENST00000391945.4	hg19	CCDS33049.1																																																																																				0.721	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109626.2	NM_000400		A	45867362	G	A	45867362	2	1	801	1	0	0	0	0	0	0	0	1	5215	1136	40	1		1	ERCC2	19	45867362	Silent	SNP	G	TCGA-UZ-A9PM-01A-21D-A382-10	24259841	45867362	13261621	46	47766											
NXT1	29107	hgsc.bcm.edu	37	20	23334728	23334728	+	Missense_Mutation	SNP	C	C	A			TCGA-UZ-A9PM-01A-21D-A382-10	TCGA-UZ-A9PM-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dfef537-01d1-4b16-a21d-4e9503040705	0ec588cf-97a6-49af-a772-c55a2af2cf9b	g.chr20:23334728C>A	ENST00000254998.2	+	2	437	c.50C>A	c.(49-51)gCt>gAt	p.A17D	RP3-322G13.5_ENST00000444981.1_RNA|RP3-322G13.7_ENST00000442884.1_RNA|AL096677.1_ENST00000596205.1_5'Flank|RP3-322G13.5_ENST00000452395.1_RNA|RP3-322G13.5_ENST00000442440.1_RNA	NM_013248.2	NP_037380.1	Q9UKK6	NXT1_HUMAN	nuclear transport factor 2-like export factor 1	17	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				protein export from nucleus (GO:0006611)|RNA export from nucleus (GO:0006405)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)				NS(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					TGCAGAGCTGCTGAGGAGTTT	0.547																																																0													96	92	93					20																	23334728		2203	4300	6503	SO:0001583	missense	29107			AF156957	CCDS13150.1	20p12-p11.2	2014-05-12	2014-05-12		ENSG00000132661	ENSG00000132661			15913	protein-coding gene	gene with protein product		605811	"NTX2-like export factor1", "NTF2-like export factor 1"			10567585, 11259602	Standard	NM_013248		Approved	P15, MTR2	uc002wsx.1	Q9UKK6	OTTHUMG00000032059	ENST00000254998.2:c.50C>A	chr20.hg19:g.23334728C>A	ENSP00000254998:p.Ala17Asp			Missense_Mutation	SNP	ENST00000254998.2	hg19	CCDS13150.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.897600	0.72639	.	.	ENSG00000132661	ENST00000254998	.	.	.	5.32	4.37	0.52481	Nuclear transport factor 2, Eukaryote (1);Nuclear transport factor 2 (1);	0.060915	0.64402	D	0.000002	T	0.80949	0.4722	M	0.90019	3.08	0.43152	D	0.994922	D	0.69078	0.997	D	0.70935	0.971	D	0.85059	0.0933	9	0.87932	D	0	.	12.1184	0.53878	0.0:0.8279:0.1721:0.0	.	17	Q9UKK6	NXT1_HUMAN	D	17	.	ENSP00000254998:A17D	A	+	2	0	NXT1	23282728	1.000000	0.71417	0.018000	0.16275	0.958000	0.62258	6.916000	0.75776	1.604000	0.50143	0.655000	0.94253	GCT		0.547	NXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078313.2	NM_013248		A	23334728	C	A	23334728	3	1	801	1	0	0	0	0	1	0	0	0	10796	797	28	4	52	4	NXT1	20	23334728	Missense_Mutation	SNP	C	TCGA-UZ-A9PM-01A-21D-A382-10		23334728	39690792	47	47767											
CLIC6	54102	hgsc.bcm.edu	37	21	36042470	36042470	+	Silent	SNP	A	A	G	rs557556798|rs62213790	byFrequency	TCGA-UZ-A9PM-01A-21D-A382-10	TCGA-UZ-A9PM-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dfef537-01d1-4b16-a21d-4e9503040705	0ec588cf-97a6-49af-a772-c55a2af2cf9b	g.chr21:36042470A>G	ENST00000360731.3	+	1	783	c.783A>G	c.(781-783)gaA>gaG	p.E261E	CLIC6_ENST00000349499.2_Silent_p.E261E			Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	261	13 X 10 AA tandem repeat of G-D-[SNG]- [VIM]-[DEQ]-A-[EAG]-[GDVE]-[PRG]-[LAVP].					chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						ACGGCGTAGAAGCGGGGGTCC	0.761																																																0													1	2	2					21																	36042470		755	1897	2652	SO:0001819	synonymous_variant	54102			AF426169	CCDS13638.1	21q22.12	2012-09-26			ENSG00000159212	ENSG00000159212		"Ion channels / Chloride channels : Intracellular"	2065	protein-coding gene	gene with protein product		615321		CLIC1L		10830953	Standard	NM_053277		Approved	CLIC5	uc002yuf.1	Q96NY7	OTTHUMG00000086237	ENST00000360731.3:c.783A>G	chr21.hg19:g.36042470A>G			A8K0U8|Q8IX31	Silent	SNP	ENST00000360731.3	hg19																																																																																					0.761	CLIC6-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000194156.1			G	36042470	A	G	36042470	2	3	801	1	0	0	0	0	0	0	0	1	3532	69	3	3		3	CLIC6	21	36042470	Silent	SNP	A	TCGA-UZ-A9PM-01A-21D-A382-10		36042470	12087425	48	47768											
SEC14L3	266629	hgsc.bcm.edu	37	22	30860885	30860885	+	Missense_Mutation	SNP	T	T	C			TCGA-UZ-A9PM-01A-21D-A382-10	TCGA-UZ-A9PM-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dfef537-01d1-4b16-a21d-4e9503040705	0ec588cf-97a6-49af-a772-c55a2af2cf9b	g.chr22:30860885T>C	ENST00000215812.4	-	8	676	c.586A>G	c.(586-588)Aaa>Gaa	p.K196E	SEC14L3_ENST00000539629.1_Missense_Mutation_p.K137E|SEC14L3_ENST00000401751.1_Missense_Mutation_p.K137E|SEC14L3_ENST00000403066.1_Missense_Mutation_p.K137E|SEC14L3_ENST00000402286.1_Missense_Mutation_p.K119E|SEC14L3_ENST00000540910.1_Missense_Mutation_p.K119E|SEC14L3_ENST00000415957.2_Missense_Mutation_p.K137E	NM_174975.4	NP_777635.1	Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	196	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					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)	GGGAACAGTTTGGTAGCTGGA	0.438																																					Esophageal Squamous(108;290 1516 3584 23771 37333)											0													129	117	121					22																	30860885		2203	4300	6503	SO:0001583	missense	266629			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.586A>G	chr22.hg19:g.30860885T>C	ENSP00000215812:p.Lys196Glu		E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Missense_Mutation	SNP	ENST00000215812.4	hg19	CCDS13877.1	.	.	.	.	.	.	.	.	.	.	T	15.27	2.784925	0.49997	.	.	ENSG00000100012	ENST00000403066;ENST00000415957;ENST00000215812;ENST00000402286;ENST00000401751;ENST00000539629;ENST00000540910	T;T;T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08	5.4	4.35	0.52113	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.092809	0.64402	D	0.000001	D	0.87924	0.6300	M	0.91196	3.185	0.80722	D	1	D;B	0.58970	0.984;0.068	P;B	0.59221	0.854;0.155	D	0.89075	0.3472	10	0.87932	D	0	-13.0241	11.3853	0.49782	0.1359:0.0:0.0:0.8641	.	119;196	E9PE57;Q9UDX4	.;S14L3_HUMAN	E	137;137;196;119;137;137;119	ENSP00000385941:K137E;ENSP00000401864:K137E;ENSP00000215812:K196E;ENSP00000385004:K119E;ENSP00000383896:K137E;ENSP00000444691:K137E;ENSP00000439752:K119E	ENSP00000215812:K196E	K	-	1	0	SEC14L3	29190885	1.000000	0.71417	0.989000	0.46669	0.024000	0.10985	7.561000	0.82288	0.866000	0.35629	-0.336000	0.08194	AAA		0.438	SEC14L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321950.4	NM_174975		C	30860885	T	C	30860885	3	2	801	1	0	0	0	0	1	0	0	0	13989	1821	63	3	636	3	SEC14L3	22	30860885	Missense_Mutation	SNP	T	TCGA-UZ-A9PM-01A-21D-A382-10		30860885	20443681	49	47769											
APOBEC3G	60489	hgsc.bcm.edu	37	22	39479829	39479829	+	Silent	SNP	G	G	A			TCGA-UZ-A9PM-01A-21D-A382-10	TCGA-UZ-A9PM-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dfef537-01d1-4b16-a21d-4e9503040705	0ec588cf-97a6-49af-a772-c55a2af2cf9b	g.chr22:39479829G>A	ENST00000407997.3	+	5	1032	c.675G>A	c.(673-675)gaG>gaA	p.E225E	APOBEC3G_ENST00000461827.1_3'UTR|APOBEC3G_ENST00000452957.2_Silent_p.E225E	NM_021822.3	NP_068594.1	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G	225	Necessary for homooligomerization.				base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral process (GO:0048525)|positive regulation of defense response to virus by host (GO:0002230)|viral process (GO:0016032)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|ribonucleoprotein complex (GO:0030529)	cytidine deaminase activity (GO:0004126)|deoxycytidine deaminase activity (GO:0047844)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12	Melanoma(58;0.04)					ATGAGGTGGAGCGCATGCACA	0.552																																																0													121	99	106					22																	39479829		2203	4300	6503	SO:0001819	synonymous_variant	60489			AF182420	CCDS13984.1	22q13.1-q13.2	2008-05-15			ENSG00000239713	ENSG00000239713		"Apolipoprotein B mRNA editing enzymes"	17357	protein-coding gene	gene with protein product		607113				11863358	Standard	NM_021822		Approved	CEM15, MDS019, dJ494G10.1, FLJ12740, bK150C2.7		Q9HC16	OTTHUMG00000151081	ENST00000407997.3:c.675G>A	chr22.hg19:g.39479829G>A			B2RDR9|Q45F02|Q5TF77|Q7Z2N1|Q7Z2N4|Q9H9H8	Silent	SNP	ENST00000407997.3	hg19	CCDS13984.1																																																																																				0.552	APOBEC3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321219.1	NM_021822		A	39479829	G	A	39479829	2	1	801	1	0	0	0	0	0	0	0	1	794	962	34	2		2	APOBEC3G	22	39479829	Silent	SNP	G	TCGA-UZ-A9PM-01A-21D-A382-10	8618944	39479829	11824737	50	47770											
SAPS2	9701	hgsc.bcm.edu	37	22	50876323	50876323	+	Silent	SNP	G	G	A			TCGA-UZ-A9PM-01A-21D-A382-10	TCGA-UZ-A9PM-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dfef537-01d1-4b16-a21d-4e9503040705	0ec588cf-97a6-49af-a772-c55a2af2cf9b	g.chr22:50876323G>A	ENST00000216061.5	+	18	2203	c.1833G>A	c.(1831-1833)gaG>gaA	p.E611E	PPP6R2_ENST00000395741.3_Silent_p.E585E|PPP6R2_ENST00000359139.3_Silent_p.E584E|PPP6R2_ENST00000395744.3_Silent_p.E584E			O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	611						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						ACGCTGACGAGGACAGTGTGA	0.627																																																0													43	30	35					22																	50876323		2180	4247	6427	SO:0001819	synonymous_variant	9701			AB014585	CCDS33681.1, CCDS56235.1, CCDS56236.1, CCDS74881.1	22q13.33	2012-04-17	2010-06-28	2010-06-28	ENSG00000100239	ENSG00000100239		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"	19253	protein-coding gene	gene with protein product		610877	"KIAA0685", "SAPS domain family, member 2"	KIAA0685, SAPS2		16769727	Standard	NM_014678		Approved	dJ579N16.1, SAP190	uc003blc.3	O75170	OTTHUMG00000150199	ENST00000216061.5:c.1833G>A	chr22.hg19:g.50876323G>A			A6PVG3|B7Z7T3|Q5U5P3|Q7Z2L2|Q7Z5G5|Q7Z731|Q9UGB9	Silent	SNP	ENST00000216061.5	hg19																																																																																					0.627	PPP6R2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316809.1	NM_014678		A	50876323	G	A	50876323	2	1	801	1	0	0	0	0	0	0	0	1	13843	991	35	2		2	SAPS2	22	50876323	Silent	SNP	G	TCGA-UZ-A9PM-01A-21D-A382-10	11396494	50876323	428243	51	47771											
HUWE1	10075	hgsc.bcm.edu	37	X	53641606	53641606	+	Missense_Mutation	SNP	C	C	G			TCGA-UZ-A9PM-01A-21D-A382-10	TCGA-UZ-A9PM-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dfef537-01d1-4b16-a21d-4e9503040705	0ec588cf-97a6-49af-a772-c55a2af2cf9b	g.chrX:53641606C>G	ENST00000342160.3	-	22	2607	c.2150G>C	c.(2149-2151)aGg>aCg	p.R717T	HUWE1_ENST00000218328.8_Missense_Mutation_p.R717T|HUWE1_ENST00000262854.6_Missense_Mutation_p.R717T			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	717					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						ATGATTAGACCTTGGGGGAGG	0.478																																																0													151	130	137					X																	53641606		2203	4300	6503	SO:0001583	missense	10075			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.2150G>C	chrX.hg19:g.53641606C>G	ENSP00000340648:p.Arg717Thr		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	hg19	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.403533	0.62288	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328	T;T;T	0.44482	0.92;0.92;0.92	5.46	5.46	0.80206	E3 ubiquitin ligase, domain of unknown function DUF913 (1);	0.506668	0.20511	N	0.090900	T	0.45256	0.1333	L	0.46157	1.445	0.58432	D	0.999999	P	0.48503	0.911	P	0.47827	0.558	T	0.20806	-1.0264	10	0.21014	T	0.42	.	16.9953	0.86366	0.0:1.0:0.0:0.0	.	717	Q7Z6Z7	HUWE1_HUMAN	T	717	ENSP00000340648:R717T;ENSP00000262854:R717T;ENSP00000218328:R717T	ENSP00000218328:R717T	R	-	2	0	HUWE1	53658331	1.000000	0.71417	0.997000	0.53966	0.830000	0.47004	7.090000	0.76916	2.275000	0.75901	0.600000	0.82982	AGG		0.478	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		G	53641606	C	G	53641606	3	3	801	1	0	0	0	0	1	0	0	0	7463	681	24	4	11222	4	HUWE1	23	53641606	Missense_Mutation	SNP	C	TCGA-UZ-A9PM-01A-21D-A382-10		53641606	101628954	52	47772											
ARR3	407	hgsc.bcm.edu	37	X	69500417	69500417	+	Missense_Mutation	SNP	G	G	C			TCGA-UZ-A9PM-01A-21D-A382-10	TCGA-UZ-A9PM-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dfef537-01d1-4b16-a21d-4e9503040705	0ec588cf-97a6-49af-a772-c55a2af2cf9b	g.chrX:69500417G>C	ENST00000307959.8	+	14	1049	c.998G>C	c.(997-999)gGa>gCa	p.G333A	ARR3_ENST00000374495.3_Missense_Mutation_p.G333A|RAB41_ENST00000276066.4_5'Flank|RAB41_ENST00000374473.2_5'Flank	NM_004312.2	NP_004303.2	P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)	333					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						AGCATCCTAGGAGACCTGACA	0.498																																																0													64	61	62					X																	69500417		2203	4300	6503	SO:0001583	missense	407				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.998G>C	chrX.hg19:g.69500417G>C	ENSP00000311538:p.Gly333Ala		B5B0B9|Q5JT23|Q5JT24|Q6IBF5|Q96EN2	Missense_Mutation	SNP	ENST00000307959.8	hg19	CCDS14399.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.511400	0.64522	.	.	ENSG00000120500	ENST00000374495;ENST00000374480;ENST00000307959	T;T	0.18338	2.22;2.22	5.21	4.34	0.51931	Immunoglobulin E-set (1);Arrestin, C-terminal (1);Arrestin-like, C-terminal (1);	0.227351	0.45361	D	0.000374	T	0.38746	0.1052	M	0.89840	3.065	0.33699	D	0.614329	P;D	0.55172	0.882;0.97	B;P	0.53593	0.281;0.73	T	0.62238	-0.6896	10	0.87932	D	0	-7.5091	10.158	0.42833	0.0946:0.0:0.9054:0.0	.	333;333	P36575;P36575-2	ARRC_HUMAN;.	A	333	ENSP00000363619:G333A;ENSP00000311538:G333A	ENSP00000311538:G333A	G	+	2	0	ARR3	69417142	1.000000	0.71417	0.791000	0.31998	0.990000	0.78478	4.957000	0.63652	0.965000	0.38133	0.600000	0.82982	GGA		0.498	ARR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057055.2	NM_004312		C	69500417	G	C	69500417	3	2	801	1	0	0	0	0	1	0	0	0	979	1174	41	4	1048	4	ARR3	23	69500417	Missense_Mutation	SNP	G	TCGA-UZ-A9PM-01A-21D-A382-10	15858811	69500417	85770143	53	47773											
NHSL2	340527	hgsc.bcm.edu	37	X	71354534	71354534	+	5'UTR	SNP	T	T	A			TCGA-UZ-A9PM-01A-21D-A382-10	TCGA-UZ-A9PM-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dfef537-01d1-4b16-a21d-4e9503040705	0ec588cf-97a6-49af-a772-c55a2af2cf9b	g.chrX:71354534T>A	ENST00000373677.1	+	0	1036				NHSL2_ENST00000540800.1_Missense_Mutation_p.I247N|NHSL2_ENST00000535692.1_5'UTR|RGAG4_ENST00000609883.1_5'Flank|RGAG4_ENST00000545866.1_5'Flank|NHSL2_ENST00000510661.1_Missense_Mutation_p.I60N			Q5HYW2	NHSL2_HUMAN	NHS-like 2											NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					CAGTCTGACATTGTGCCCATC	0.527																																																0													97	75	81					X																	71354534		692	1591	2283	SO:0001623	5_prime_UTR_variant	340527					Xq13.1	2009-02-18			ENSG00000204131	ENSG00000204131			33737	protein-coding gene	gene with protein product							Standard	NM_001013627		Approved		uc011mqa.2	Q5HYW2	OTTHUMG00000021807	ENST00000373677.1:c.-227T>A	chrX.hg19:g.71354534T>A			B2RN94	Missense_Mutation	SNP	ENST00000373677.1	hg19		.	.	.	.	.	.	.	.	.	.	t	17.20	3.329482	0.60743	.	.	ENSG00000204131	ENST00000540800;ENST00000510661	T;T	0.56776	0.71;0.44	5.27	5.27	0.74061	.	.	.	.	.	T	0.53045	0.1772	L	0.34521	1.04	0.80722	D	1	P;P	0.52692	0.955;0.955	P;P	0.54312	0.643;0.748	T	0.50423	-0.8830	8	.	.	.	.	12.1115	0.53842	0.0:0.0:0.0:1.0	.	247;60	F5H593;D6RBM4	.;.	N	247;60	ENSP00000444617:I247N;ENSP00000424079:I60N	.	I	+	2	0	NHSL2	71271259	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.634000	0.83273	1.763000	0.52060	0.378000	0.23410	ATT		0.527	NHSL2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057170.1	NM_001013627		A	71354534	T	A	71354534	1	1	801	0	1	0	0	0	0	0	0	0	10414	1493	52	5		5	NHSL2	23	71354534	5'UTR	SNP	T	TCGA-UZ-A9PM-01A-21D-A382-10	1854117	71354534	83916026	54	47774											
POU3F4	5456	hgsc.bcm.edu	37	X	82763464	82763464	+	Frame_Shift_Del	DEL	G	G	-			TCGA-UZ-A9PM-01A-21D-A382-10	TCGA-UZ-A9PM-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dfef537-01d1-4b16-a21d-4e9503040705	0ec588cf-97a6-49af-a772-c55a2af2cf9b	g.chrX:82763464delG	ENST00000373200.2	+	1	196	c.132delG	c.(130-132)cagfs	p.Q44fs	RP3-326L13.3_ENST00000607789.1_lincRNA|RP3-326L13.2_ENST00000607095.1_RNA	NM_000307.3	NP_000298	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	44					cochlea morphogenesis (GO:0090103)|forebrain neuron differentiation (GO:0021879)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|sensory perception of sound (GO:0007605)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	AT DNA binding (GO:0003680)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						ATTACTTGCAGGGAGTTCCCA	0.612																																																0													38	30	33					X																	82763464		2203	4300	6503	SO:0001589	frameshift_variant	5456			X82324	CCDS14450.1	Xq21.1	2011-06-20	2007-07-13		ENSG00000196767	ENSG00000196767		"Homeoboxes / POU class"	9217	protein-coding gene	gene with protein product	"brain-4"	300039	"POU domain class 3, transcription factor 4"	DFN3		7911044, 7581392	Standard	NM_000307		Approved	BRN4, OTF9, DFNX2	uc004eeg.2	P49335	OTTHUMG00000021919	ENST00000373200.2:c.132delG	chrX.hg19:g.82763464delG	ENSP00000362296:p.Gln44fs		B2RC71|Q5H9G9|Q99410	Frame_Shift_Del	DEL	ENST00000373200.2	hg19	CCDS14450.1																																																																																				0.612	POU3F4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057368.2	NM_000307		-	82763464	G	-	82763464	7	5	801	1	0	1	0	1	0	0	0	0	12279	991	35	0	134	0	POU3F4	23	82763464	Frame_Shift_Del	DEL	G	TCGA-UZ-A9PM-01A-21D-A382-10	11408930	82763464	72507096	55	47775											
VAMP7	6845	hgsc.bcm.edu	37	X	155171620	155171620	+	3'UTR	SNP	G	G	T			TCGA-UZ-A9PM-01A-21D-A382-10	TCGA-UZ-A9PM-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dfef537-01d1-4b16-a21d-4e9503040705	0ec588cf-97a6-49af-a772-c55a2af2cf9b	g.chrX:155171620G>T	ENST00000286448.6	+	0	833				VAMP7_ENST00000460621.1_3'UTR|VAMP7_ENST00000262640.6_Missense_Mutation_p.K200N	NM_001145149.2|NM_005638.5	NP_001138621.1|NP_005629.1	P51809	VAMP7_HUMAN	vesicle-associated membrane protein 7						calcium ion-dependent exocytosis (GO:0017156)|endosome to lysosome transport (GO:0008333)|eosinophil degranulation (GO:0043308)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi to plasma membrane protein transport (GO:0043001)|membrane organization (GO:0061024)|neutrophil degranulation (GO:0043312)|phagocytosis, engulfment (GO:0006911)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of protein targeting to vacuolar membrane (GO:1900483)|SNARE complex assembly (GO:0035493)|triglyceride transport (GO:0034197)|vesicle fusion (GO:0006906)|vesicle fusion with Golgi apparatus (GO:0048280)|vesicle-mediated transport (GO:0016192)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|synapse (GO:0045202)				large_intestine(1)|lung(8)	9	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)					AAATAGGAAAGAAGAAGTTAC	0.413																																																0													220	211	214					X																	155171620		2203	4296	6499	SO:0001624	3_prime_UTR_variant	6845			AJ295938	CCDS14770.4, CCDS48199.1, CCDS55548.1	Xq28 and Yq12	2013-02-13	2007-12-05	2007-12-05	ENSG00000124333	ENSG00000124333		"Pseudoautosomal regions / PAR2", "Vesicle-associated membrane proteins"	11486	protein-coding gene	gene with protein product		300053	"synaptobrevin-like 1"	SYBL1		8640232, 11440841	Standard	NM_001145149		Approved	VAMP-7, TI-VAMP	uc004fns.3	P51809	OTTHUMG00000022679	ENST00000286448.6:c.*5G>T	chrX.hg19:g.155171620G>T			Q53GY7|Q7Z409|Q9H4A7	Missense_Mutation	SNP	ENST00000286448.6	hg19	CCDS14770.4	.	.	.	.	.	.	.	.	.	.	G	6.602	0.479414	0.12581	.	.	ENSG00000124333	ENST00000262640	T	0.24350	1.86	2.6	-0.913	0.10500	.	44.072800	0.00166	N	0.000001	T	0.17916	0.0430	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.26189	-1.0110	9	0.59425	D	0.04	.	2.8345	0.05510	0.1657:0.0:0.3548:0.4795	.	200	P51809-2	.	N	200	ENSP00000262640:K200N	ENSP00000262640:K200N	K	+	3	2	VAMP7	154824814	0.926000	0.31397	0.025000	0.17156	0.147000	0.21601	0.598000	0.24074	-0.055000	0.13244	0.279000	0.19357	AAG		0.413	VAMP7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058843.1	NM_005638		T	155171620	G	T	155171620	1	4	801	0	1	0	0	0	0	0	0	0	17122	933	33	4		4	VAMP7	23	155171620	3'UTR	SNP	G	TCGA-UZ-A9PM-01A-21D-A382-10	72408156	155171620	98940	56	47776											
B4GALT2	8704	hgsc.bcm.edu	37	1	44450687	44450687	+	Frame_Shift_Del	DEL	C	C	-			TCGA-UZ-A9PN-01A-11D-A382-10	TCGA-UZ-A9PN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	206e9cb3-201a-42f0-9d9e-4477dfe96585	9d87e73d-61d7-487c-9e1b-4dbc1285612b	g.chr1:44450687delC	ENST00000356836.6	+	4	1490	c.700delC	c.(700-702)cccfs	p.P234fs	B4GALT2_ENST00000481924.1_3'UTR|B4GALT2_ENST00000372324.1_Frame_Shift_Del_p.P234fs|B4GALT2_ENST00000309519.7_Frame_Shift_Del_p.P263fs|B4GALT2_ENST00000434555.2_Frame_Shift_Del_p.P168fs	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	234					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)|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)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|lactose synthase activity (GO:0004461)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	CGGCGACCAACCCCGCCACTT	0.617																																																0													55	53	54					1																	44450687		2203	4300	6503	SO:0001589	frameshift_variant	8704			AF038660	CCDS506.1, CCDS55596.1	1p34-p33	2013-02-19			ENSG00000117411	ENSG00000117411		"Beta 4-glycosyltransferases"	925	protein-coding gene	gene with protein product		604013				9405390, 9597550	Standard	NM_003780		Approved	beta4Gal-T2	uc010okl.2	O60909	OTTHUMG00000008296	ENST00000356836.6:c.700delC	chr1.hg19:g.44450687delC	ENSP00000349293:p.Pro234fs		B3KTP0|B4DE14|D3DPY6|D3DPY7|O60511|Q4V9L9|Q5T4X5|Q5T4Y5|Q9BUP6|Q9NSY7	Frame_Shift_Del	DEL	ENST00000356836.6	hg19	CCDS506.1																																																																																				0.617	B4GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022840.1	NM_003780		-	44450687	C	-	44450687	7	5	802	1	0	1	0	1	0	0	0	0	1271	507	18	0	710	0	B4GALT2	1	44450687	Frame_Shift_Del	DEL	C	TCGA-UZ-A9PN-01A-11D-A382-10		44450687	204799934	1	47777											
COL11A1	1301	hgsc.bcm.edu	37	1	103470193	103470193	+	Missense_Mutation	SNP	G	G	C			TCGA-UZ-A9PN-01A-11D-A382-10	TCGA-UZ-A9PN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	206e9cb3-201a-42f0-9d9e-4477dfe96585	9d87e73d-61d7-487c-9e1b-4dbc1285612b	g.chr1:103470193G>C	ENST00000370096.3	-	19	2182	c.1870C>G	c.(1870-1872)Cca>Gca	p.P624A	COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000512756.1_Missense_Mutation_p.P508A|COL11A1_ENST00000353414.4_Missense_Mutation_p.P585A|COL11A1_ENST00000358392.2_Missense_Mutation_p.P636A	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	624	Collagen-like 3.|Collagen-like 4.|Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GGAGGACCTGGAGGACCTTGA	0.328																																																0													40	36	38					1																	103470193		2203	4300	6503	SO:0001583	missense	1301			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1870C>G	chr1.hg19:g.103470193G>C	ENSP00000359114:p.Pro624Ala		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	hg19	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.615873	0.87359	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756	D;D;D;D	0.93953	-3.32;-3.32;-3.32;-3.32	5.83	5.83	0.93111	.	0.115539	0.64402	D	0.000013	D	0.96380	0.8819	M	0.76328	2.33	0.80722	D	1	D;D;D;D	0.89917	0.997;0.996;1.0;1.0	D;D;D;D	0.87578	0.992;0.987;0.997;0.998	D	0.95297	0.8400	10	0.48119	T	0.1	.	20.1162	0.97934	0.0:0.0:1.0:0.0	.	508;585;636;624	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	A	624;636;585;508	ENSP00000359114:P624A;ENSP00000351163:P636A;ENSP00000302551:P585A;ENSP00000426533:P508A	ENSP00000302551:P585A	P	-	1	0	COL11A1	103242781	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	5.562000	0.67346	2.756000	0.94617	0.655000	0.94253	CCA		0.328	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		C	103470193	G	C	103470193	3	2	802	1	0	0	0	0	1	0	0	0	3669	1174	41	4	3746	4	COL11A1	1	103470193	Missense_Mutation	SNP	G	TCGA-UZ-A9PN-01A-11D-A382-10	59019506	103470193	145780428	2	47778											
NPR1	4881	hgsc.bcm.edu	37	1	153651789	153651789	+	Missense_Mutation	SNP	C	C	T			TCGA-UZ-A9PN-01A-11D-A382-10	TCGA-UZ-A9PN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	206e9cb3-201a-42f0-9d9e-4477dfe96585	9d87e73d-61d7-487c-9e1b-4dbc1285612b	g.chr1:153651789C>T	ENST00000368680.3	+	1	677	c.205C>T	c.(205-207)Cgc>Tgc	p.R69C		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	69					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)	GGTGAAGGCGCGCCCCGACTT	0.736																																					Pancreas(141;1349 1870 15144 15830 40702)											0													3	4	4					1																	153651789		1837	3626	5463	SO:0001583	missense	4881			BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418			7943	protein-coding gene	gene with protein product	"guanylate cyclase A"	108960	"atrionatriuretic peptide receptor A", "natriuretic peptide receptor A"	ANPRA, NPRA		1979052	Standard	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.205C>T	chr1.hg19:g.153651789C>T	ENSP00000357669:p.Arg69Cys		B0ZBF0|Q5SR08|Q6P4Q3	Missense_Mutation	SNP	ENST00000368680.3	hg19	CCDS1051.1	.	.	.	.	.	.	.	.	.	.	C	11.85	1.762841	0.31228	.	.	ENSG00000169418	ENST00000368680	D	0.83335	-1.71	3.73	2.8	0.32819	Extracellular ligand-binding receptor (1);	0.471967	0.20468	N	0.091747	T	0.58906	0.2155	N	0.22421	0.69	0.19300	N	0.99997	P	0.44816	0.844	P	0.44359	0.447	T	0.54655	-0.8261	10	0.72032	D	0.01	.	6.4211	0.21744	0.2105:0.5851:0.2044:0.0	.	69	P16066	ANPRA_HUMAN	C	69	ENSP00000357669:R69C	ENSP00000357669:R69C	R	+	1	0	NPR1	151918413	0.024000	0.19004	0.905000	0.35620	0.811000	0.45836	0.786000	0.26844	0.738000	0.32606	0.462000	0.41574	CGC		0.736	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090034.1	NM_000906		T	153651789	C	T	153651789	3	4	802	1	0	0	0	0	1	0	0	0	10596	768	27	1	207	1	NPR1	1	153651789	Missense_Mutation	SNP	C	TCGA-UZ-A9PN-01A-11D-A382-10	50181596	153651789	95598832	3	47779											
IQGAP3	128239	hgsc.bcm.edu	37	1	156524143	156524143	+	Silent	SNP	G	G	T	rs370248624		TCGA-UZ-A9PN-01A-11D-A382-10	TCGA-UZ-A9PN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	206e9cb3-201a-42f0-9d9e-4477dfe96585	9d87e73d-61d7-487c-9e1b-4dbc1285612b	g.chr1:156524143G>T	ENST00000361170.2	-	13	1342	c.1332C>A	c.(1330-1332)ctC>ctA	p.L444L		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	444					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)					CCACAGCTGAGAGCATCTCCA	0.612																																																0													43	43	43					1																	156524143		2203	4300	6503	SO:0001819	synonymous_variant	128239			AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.1332C>A	chr1.hg19:g.156524143G>T			Q5T3H8	Silent	SNP	ENST00000361170.2	hg19	CCDS1144.1																																																																																				0.612	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229		T	156524143	G	T	156524143	2	4	802	1	0	0	0	0	0	0	0	1	7818	929	33	4		4	IQGAP3	1	156524143	Silent	SNP	G	TCGA-UZ-A9PN-01A-11D-A382-10	2872354	156524143	92726478	4	47780											
TOMM40L	84134	hgsc.bcm.edu	37	1	161198533	161198536	+	Frame_Shift_Del	DEL	ACAC	ACAC	-			TCGA-UZ-A9PN-01A-11D-A382-10	TCGA-UZ-A9PN-10A-01D-A385-10	ACAC	ACAC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	206e9cb3-201a-42f0-9d9e-4477dfe96585	9d87e73d-61d7-487c-9e1b-4dbc1285612b	g.chr1:161198533_161198536delACAC	ENST00000367988.3	+	9	982_985	c.713_716delACAC	c.(712-717)aacacafs	p.NT238fs	TOMM40L_ENST00000545897.1_Frame_Shift_Del_p.NT204fs|TOMM40L_ENST00000367987.1_Frame_Shift_Del_p.NT238fs|TOMM40L_ENST00000474486.1_3'UTR|MIR5187_ENST00000583479.1_RNA|NR1I3_ENST00000479324.1_5'Flank	NM_032174.4	NP_115550.2	Q969M1	TM40L_HUMAN	translocase of outer mitochondrial membrane 40 homolog (yeast)-like	238					ion transport (GO:0006811)|protein transport (GO:0015031)	mitochondrial outer membrane (GO:0005741)|pore complex (GO:0046930)|protein complex (GO:0043234)	porin activity (GO:0015288)			large_intestine(2)|liver(4)|lung(4)	10	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TTTGAGGCAAACACAAGGCTACAA	0.485																																																0																																										SO:0001589	frameshift_variant	84134				CCDS1227.1, CCDS65700.1	1q23.3	2008-02-05	2007-01-12		ENSG00000158882	ENSG00000158882			25756	protein-coding gene	gene with protein product			"translocase of outer mitochondrial membrane 40 homolog-like (yeast)"				Standard	NM_032174		Approved	FLJ12770, TOMM40B	uc001fzd.3	Q969M1	OTTHUMG00000034345	ENST00000367988.3:c.713_716delACAC	chr1.hg19:g.161198533_161198536delACAC	ENSP00000356967:p.Asn238fs		B7Z4U0|D3DVG9	Frame_Shift_Del	DEL	ENST00000367988.3	hg19	CCDS1227.1																																																																																				0.485	TOMM40L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083029.1	NM_032174		-	161198536	ACAC	-	161198533	7	5	802	1	0	1	0	1	0	0	0	0	16364	43	2	0	743	0	TOMM40L	1	161198533	Frame_Shift_Del	DEL	ACAC	TCGA-UZ-A9PN-01A-11D-A382-10	4674390	161198533	88052088	5	47781											
CACNA1S	779	hgsc.bcm.edu	37	1	201030418	201030418	+	Missense_Mutation	SNP	T	T	G			TCGA-UZ-A9PN-01A-11D-A382-10	TCGA-UZ-A9PN-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	206e9cb3-201a-42f0-9d9e-4477dfe96585	9d87e73d-61d7-487c-9e1b-4dbc1285612b	g.chr1:201030418T>G	ENST00000362061.3	-	25	3458	c.3232A>C	c.(3232-3234)Aac>Cac	p.N1078H	CACNA1S_ENST00000367338.3_Missense_Mutation_p.N1078H	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1078					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)	AGCTCACAGTTCTTGTACTCA	0.552																																																0													131	105	114					1																	201030418		2203	4300	6503	SO:0001583	missense	779			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.3232A>C	chr1.hg19:g.201030418T>G	ENSP00000355192:p.Asn1078His		A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	hg19	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	T	17.96	3.516695	0.64634	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.96365	-3.99;-3.91	5.21	4.07	0.47477	.	0.129861	0.64402	D	0.000001	D	0.97870	0.9300	M	0.90922	3.16	0.43740	D	0.996231	P	0.44521	0.837	P	0.58577	0.841	D	0.97740	1.0208	10	0.87932	D	0	.	9.0753	0.36517	0.0:0.1511:0.0:0.8489	.	1078	Q13698	CAC1S_HUMAN	H	1078	ENSP00000355192:N1078H;ENSP00000356307:N1078H	ENSP00000355192:N1078H	N	-	1	0	CACNA1S	199297041	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.036000	0.41165	0.914000	0.36822	0.459000	0.35465	AAC		0.552	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		G	201030418	T	G	201030418	3	3	802	1	0	0	0	0	1	0	0	0	2549	1783	62	5	2469	5	CACNA1S	1	201030418	Missense_Mutation	SNP	T	TCGA-UZ-A9PN-01A-11D-A382-10	39831885	201030418	48220203	6	47782											
NVL	4931	hgsc.bcm.edu	37	1	224424263	224424263	+	Missense_Mutation	SNP	C	C	A			TCGA-UZ-A9PN-01A-11D-A382-10	TCGA-UZ-A9PN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	206e9cb3-201a-42f0-9d9e-4477dfe96585	9d87e73d-61d7-487c-9e1b-4dbc1285612b	g.chr1:224424263C>A	ENST00000281701.6	-	20	2570	c.2311G>T	c.(2311-2313)Gat>Tat	p.D771Y	NVL_ENST00000391875.2_Missense_Mutation_p.D665Y|NVL_ENST00000482491.1_Missense_Mutation_p.D495Y|NVL_ENST00000340871.4_Missense_Mutation_p.D582Y|NVL_ENST00000361463.3_3'UTR|NVL_ENST00000469075.1_Missense_Mutation_p.D680Y	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN	nuclear VCP-like	771						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		ACATCTGCATCCAGTGGTGGT	0.408																																																0													145	137	140					1																	224424263		2203	4300	6503	SO:0001583	missense	4931			U78772	CCDS1541.1, CCDS1542.1, CCDS58062.1, CCDS58063.1	1q41-q42.2	2010-04-21			ENSG00000143748	ENSG00000143748		"ATPases / AAA-type"	8070	protein-coding gene	gene with protein product	"Nuclear valosin-containing protein-like", "nuclear VCP-like protein"	602426				9286697	Standard	NM_002533		Approved		uc001hok.3	O15381	OTTHUMG00000037536	ENST00000281701.6:c.2311G>T	chr1.hg19:g.224424263C>A	ENSP00000281701:p.Asp771Tyr		B4DMC4|B4DP98|Q96EM7	Missense_Mutation	SNP	ENST00000281701.6	hg19	CCDS1541.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.50|16.50	3.141513|3.141513	0.57044|0.57044	.|.	.|.	ENSG00000143748|ENSG00000143748	ENST00000281701;ENST00000391875;ENST00000469075;ENST00000482491;ENST00000340871|ENST00000469968	D;D;D;D;D|.	0.95001|.	-3.58;-3.58;-3.58;-3.58;-3.58|.	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	0.199823|.	0.52532|.	D|.	0.000077|.	T|T	0.78419|0.78419	0.4280|0.4280	M|M	0.84082|0.84082	2.675|2.675	0.80722|0.80722	D|D	1|1	P;P;P|.	0.45283|.	0.855;0.699;0.855|.	B;B;B|.	0.43052|.	0.242;0.162;0.406|.	T|T	0.79329|0.79329	-0.1848|-0.1848	10|5	0.52906|.	T|.	0.07|.	-8.2467|-8.2467	15.5999|15.5999	0.76616|0.76616	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	582;680;771|.	B4DMC4;B4DP98;O15381|.	.;.;NVL_HUMAN|.	Y|V	771;665;680;495;582|653	ENSP00000281701:D771Y;ENSP00000375747:D665Y;ENSP00000417826:D680Y;ENSP00000417213:D495Y;ENSP00000341362:D582Y|.	ENSP00000281701:D771Y|.	D|G	-|-	1|2	0|0	NVL|NVL	222490886|222490886	0.998000|0.998000	0.40836|0.40836	0.994000|0.994000	0.49952|0.49952	0.908000|0.908000	0.53690|0.53690	4.387000|4.387000	0.59626|0.59626	2.831000|2.831000	0.97527|0.97527	0.655000|0.655000	0.94253|0.94253	GAT|GGA		0.408	NVL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091453.2	NM_002533		A	224424263	C	A	224424263	3	1	802	1	0	0	0	0	1	0	0	0	10782	855	30	4	275	4	NVL	1	224424263	Missense_Mutation	SNP	C	TCGA-UZ-A9PN-01A-11D-A382-10	23393845	224424263	24826358	7	47783											
CNTNAP5	129684	hgsc.bcm.edu	37	2	125405388	125405388	+	Missense_Mutation	SNP	C	C	T	rs200795882		TCGA-UZ-A9PN-01A-11D-A382-10	TCGA-UZ-A9PN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	206e9cb3-201a-42f0-9d9e-4477dfe96585	9d87e73d-61d7-487c-9e1b-4dbc1285612b	g.chr2:125405388C>T	ENST00000431078.1	+	13	2291	c.1927C>T	c.(1927-1929)Cgg>Tgg	p.R643W		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	643	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				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)		GACCCGAGTGCGGGGCGCTAA	0.562													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19738	0.0		0.0	False		,,,				2504	0.0															0								C	TRP/ARG	3,4167		0,3,2082	39	41	41		1927	2.2	0	2		41	3,8413		0,3,4205	yes	missense	CNTNAP5	NM_130773.2	101	0,6,6287	TT,TC,CC		0.0356,0.0719,0.0477	probably-damaging	643/1307	125405388	6,12580	2085	4208	6293	SO:0001583	missense	129684			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.1927C>T	chr2.hg19:g.125405388C>T	ENSP00000399013:p.Arg643Trp		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	hg19	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.376451	0.42105	7.19E-4	3.56E-4	ENSG00000155052	ENST00000431078	T	0.11385	2.78	5.2	2.17	0.27698	.	0.624103	0.14114	N	0.340507	T	0.15176	0.0366	M	0.61703	1.905	0.09310	N	1	D	0.58620	0.983	B	0.43018	0.405	T	0.11641	-1.0579	10	0.72032	D	0.01	.	13.8889	0.63726	0.3906:0.6093:0.0:0.0	.	643	Q8WYK1	CNTP5_HUMAN	W	643	ENSP00000399013:R643W	ENSP00000399013:R643W	R	+	1	2	CNTNAP5	125121858	0.380000	0.25131	0.012000	0.15200	0.339000	0.28857	1.823000	0.39062	0.661000	0.30985	0.561000	0.74099	CGG		0.562	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			T	125405388	C	T	125405388	3	4	802	1	0	0	0	0	1	0	0	0	3652	759	27	1	1977	1	CNTNAP5	2	125405388	Missense_Mutation	SNP	C	TCGA-UZ-A9PN-01A-11D-A382-10		125405388	117793985	8	47784											
LRP1B	53353	hgsc.bcm.edu	37	2	141598582	141598582	+	Silent	SNP	C	C	T	rs373983727		TCGA-UZ-A9PN-01A-11D-A382-10	TCGA-UZ-A9PN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	206e9cb3-201a-42f0-9d9e-4477dfe96585	9d87e73d-61d7-487c-9e1b-4dbc1285612b	g.chr2:141598582C>T	ENST00000389484.3	-	30	5990	c.5019G>A	c.(5017-5019)acG>acA	p.T1673T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1673					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)		CATTAATTTGCGTTTCATCAA	0.418										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)											0								C		1,4405	2.1+/-5.4	0,1,2202	135	121	126		5019	-10.9	1	2		126	0,8600		0,0,4300	no	coding-synonymous	LRP1B	NM_018557.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		1673/4600	141598582	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.5019G>A	chr2.hg19:g.141598582C>T			Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	hg19	CCDS2182.1																																																																																				0.418	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		T	141598582	C	T	141598582	2	4	802	1	0	0	0	0	0	0	0	1	8957	755	27	1		1	LRP1B	2	141598582	Silent	SNP	C	TCGA-UZ-A9PN-01A-11D-A382-10	16193194	141598582	101600791	9	47785											
ANKRD44	91526	hgsc.bcm.edu	37	2	197870520	197870520	+	Missense_Mutation	SNP	C	C	T	rs150303870		TCGA-UZ-A9PN-01A-11D-A382-10	TCGA-UZ-A9PN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	206e9cb3-201a-42f0-9d9e-4477dfe96585	9d87e73d-61d7-487c-9e1b-4dbc1285612b	g.chr2:197870520C>T	ENST00000328737.2	-	21	2246	c.2170G>A	c.(2170-2172)Gcc>Acc	p.A724T	ANKRD44_ENST00000337207.5_Missense_Mutation_p.A724T|ANKRD44_ENST00000450567.1_Missense_Mutation_p.A724T|ANKRD44_ENST00000282272.8_Missense_Mutation_p.A741T			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	749										NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			AGCCACGTGGCGTGGCCACGA	0.527																																																0								C	THR/ALA	0,4406		0,0,2203	154	150	151		2245	5.3	1	2	dbSNP_134	151	1,8599	1.2+/-3.3	0,1,4299	no	missense	ANKRD44	NM_001195144.1	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	749/994	197870520	1,13005	2203	4300	6503	SO:0001583	missense	91526			AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	25259	protein-coding gene	gene with protein product	"protein phosphatase 6 ankyrin repeat subunit B"						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.2170G>A	chr2.hg19:g.197870520C>T	ENSP00000331516:p.Ala724Thr		Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Missense_Mutation	SNP	ENST00000328737.2	hg19		.	.	.	.	.	.	.	.	.	.	C	13.35	2.210902	0.39102	0.0	1.16E-4	ENSG00000065413	ENST00000424317;ENST00000282272;ENST00000328737;ENST00000450567;ENST00000337207	T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.62804	0.2458	N	0.16130	0.375	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.61691	-0.7011	10	0.34782	T	0.22	.	12.4427	0.55634	0.0:0.9242:0.0:0.0758	.	767	Q8N8A2-2	.	T	564;741;724;724;724	ENSP00000403415:A564T;ENSP00000282272:A741T;ENSP00000331516:A724T;ENSP00000402420:A724T;ENSP00000338794:A724T	ENSP00000282272:A741T	A	-	1	0	ANKRD44	197578765	0.960000	0.32886	0.994000	0.49952	0.986000	0.74619	2.068000	0.41471	2.767000	0.95098	0.655000	0.94253	GCC		0.527	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	NM_153697		T	197870520	C	T	197870520	3	4	802	1	0	0	0	0	1	0	0	0	672	768	27	1	613	1	ANKRD44	2	197870520	Missense_Mutation	SNP	C	TCGA-UZ-A9PN-01A-11D-A382-10	56271938	197870520	45328853	10	47786											
GIGYF2	26058	hgsc.bcm.edu	37	2	233651983	233651983	+	Missense_Mutation	SNP	G	G	T			TCGA-UZ-A9PN-01A-11D-A382-10	TCGA-UZ-A9PN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	206e9cb3-201a-42f0-9d9e-4477dfe96585	9d87e73d-61d7-487c-9e1b-4dbc1285612b	g.chr2:233651983G>T	ENST00000409547.1	+	11	967	c.656G>T	c.(655-657)gGt>gTt	p.G219V	GIGYF2_ENST00000373566.3_Missense_Mutation_p.G241V|GIGYF2_ENST00000452341.2_Missense_Mutation_p.G50V|GIGYF2_ENST00000373563.4_Missense_Mutation_p.G219V|GIGYF2_ENST00000409480.1_Missense_Mutation_p.G241V|GIGYF2_ENST00000409451.3_Missense_Mutation_p.G241V|GIGYF2_ENST00000409196.3_Missense_Mutation_p.G219V	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	219	Arg-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)		GAAGATGGAGGTTGGCGACTA	0.463																																																0													124	126	125					2																	233651983		2203	4300	6503	SO:0001583	missense	26058			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.656G>T	chr2.hg19:g.233651983G>T	ENSP00000386537:p.Gly219Val		A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Missense_Mutation	SNP	ENST00000409547.1	hg19	CCDS33401.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.117800	0.77323	.	.	ENSG00000204120	ENST00000373566;ENST00000414511;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000535418;ENST00000423659;ENST00000409196;ENST00000409451;ENST00000440945;ENST00000445650;ENST00000452341;ENST00000421778	T;T;T;T;T;T;T;T;T;T	0.79247	-0.96;-0.91;-0.96;-0.91;-0.99;-0.91;-0.96;-1.07;-1.25;-0.73	5.93	5.05	0.67936	.	0.054310	0.85682	D	0.000000	D	0.85301	0.5665	L	0.52573	1.65	0.80722	D	1	D;P;P;P	0.76494	0.999;0.757;0.912;0.573	D;B;B;B	0.78314	0.991;0.341;0.255;0.168	D	0.86420	0.1754	10	0.59425	D	0.04	-13.7649	17.2528	0.87047	0.0:0.1256:0.8744:0.0	.	50;241;219;219	E9PC50;A6H8W4;Q6Y7W6;E9PBB0	.;.;PERQ2_HUMAN;.	V	241;168;219;241;219;219;168;219;241;219;50;50;46	ENSP00000362667:G241V;ENSP00000362664:G219V;ENSP00000386765:G241V;ENSP00000386537:G219V;ENSP00000404195:G168V;ENSP00000387070:G219V;ENSP00000387170:G241V;ENSP00000410297:G219V;ENSP00000392218:G50V;ENSP00000411505:G50V	ENSP00000362664:G219V	G	+	2	0	GIGYF2	233360227	1.000000	0.71417	0.982000	0.44146	0.915000	0.54546	9.230000	0.95299	1.493000	0.48517	-0.165000	0.13383	GGT		0.463	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		T	233651983	G	T	233651983	3	4	802	1	0	0	0	0	1	0	0	0	6380	1261	44	4	752	4	GIGYF2	2	233651983	Missense_Mutation	SNP	G	TCGA-UZ-A9PN-01A-11D-A382-10	35781463	233651983	9547390	11	47787											
UGT1A10	54575	hgsc.bcm.edu	37	2	234545301	234545301	+	Missense_Mutation	SNP	G	G	A	rs371430642		TCGA-UZ-A9PN-01A-11D-A382-10	TCGA-UZ-A9PN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	206e9cb3-201a-42f0-9d9e-4477dfe96585	9d87e73d-61d7-487c-9e1b-4dbc1285612b	g.chr2:234545301G>A	ENST00000344644.5	+	1	202	c.133G>A	c.(133-135)Gtg>Atg	p.V45M	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Missense_Mutation_p.V45M	NM_019075.2	NP_061948.1	Q9HAW8	UD110_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A10	45					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)	GCAGTCGGTGGTGGAGAAACT	0.522																																																0													97	81	86					2																	234545301		2203	4297	6500	SO:0001583	missense	54575			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.133G>A	chr2.hg19:g.234545301G>A	ENSP00000343838:p.Val45Met		O00474|Q6NT91|Q7Z6H8	Missense_Mutation	SNP	ENST00000344644.5	hg19	CCDS33403.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.757072	0.49468	.	.	ENSG00000242515	ENST00000344644;ENST00000373445	T;T	0.62364	0.03;0.03	3.67	2.77	0.32553	.	.	.	.	.	T	0.74898	0.3777	M	0.75150	2.29	0.32795	N	0.500625	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.992	T	0.78277	-0.2266	9	0.72032	D	0.01	.	8.077	0.30722	0.0918:0.1602:0.748:0.0	.	45;45	Q9HAW8;Q7Z6H8	UD110_HUMAN;.	M	45	ENSP00000343838:V45M;ENSP00000362544:V45M	ENSP00000343838:V45M	V	+	1	0	UGT1A10	234210040	0.000000	0.05858	0.722000	0.30670	0.806000	0.45545	-0.506000	0.06359	0.885000	0.36088	0.405000	0.27470	GTG		0.522	UGT1A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130986.1	NM_019075		A	234545301	G	A	234545301	3	1	802	1	0	0	0	0	1	0	0	0	16950	1261	44	2	135	2	UGT1A10	2	234545301	Missense_Mutation	SNP	G	TCGA-UZ-A9PN-01A-11D-A382-10	893318	234545301	8654072	12	47788											
CAMK2N2	94032	hgsc.bcm.edu	37	3	183979036	183979036	+	Frame_Shift_Del	DEL	C	C	-			TCGA-UZ-A9PN-01A-11D-A382-10	TCGA-UZ-A9PN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	206e9cb3-201a-42f0-9d9e-4477dfe96585	9d87e73d-61d7-487c-9e1b-4dbc1285612b	g.chr3:183979036delC	ENST00000296238.3	-	1	215	c.38delG	c.(37-39)ggcfs	p.G13fs	EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000402825.3_Intron	NM_033259.2	NP_150284.1	Q96S95	CK2N2_HUMAN	calcium/calmodulin-dependent protein kinase II inhibitor 2	13						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium-dependent protein kinase inhibitor activity (GO:0008427)					all_cancers(143;1.09e-10)|Ovarian(172;0.0339)		Epithelial(37;2.51e-33)|OV - Ovarian serous cystadenocarcinoma(80;5.69e-22)			GCCGAAGCGGCCCATCTTGTC	0.736																																																0													22	24	23					3																	183979036		2202	4300	6502	SO:0001589	frameshift_variant	94032			AY037149	CCDS3257.1	3q27.1	2006-03-27			ENSG00000163888	ENSG00000163888			24197	protein-coding gene	gene with protein product		608721				11444830, 9724800	Standard	NM_033259		Approved	CaM-KIIN	uc003fnj.1	Q96S95	OTTHUMG00000156821	ENST00000296238.3:c.38delG	chr3.hg19:g.183979036delC	ENSP00000296238:p.Gly13fs			Frame_Shift_Del	DEL	ENST00000296238.3	hg19	CCDS3257.1																																																																																				0.736	CAMK2N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346010.1	NM_033259		-	183979036	C	-	183979036	7	5	802	1	0	1	0	1	0	0	0	0	2606	739	26	0	209	0	CAMK2N2	3	183979036	Frame_Shift_Del	DEL	C	TCGA-UZ-A9PN-01A-11D-A382-10		183979036	14043394	13	47789											
C4orf3	401152	hgsc.bcm.edu	37	4	120221731	120221731	+	5'UTR	SNP	T	T	C			TCGA-UZ-A9PN-01A-11D-A382-10	TCGA-UZ-A9PN-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	206e9cb3-201a-42f0-9d9e-4477dfe96585	9d87e73d-61d7-487c-9e1b-4dbc1285612b	g.chr4:120221731T>C	ENST00000504110.1	-	0	345				C4orf3_ENST00000399075.4_Missense_Mutation_p.H120R	NM_001001701.3	NP_001001701.2	Q8WVX3	CD003_HUMAN	chromosome 4 open reading frame 3							integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(4)	6						AAACCGAAAATGCTTAAGTTC	0.622																																																0													67	71	70					4																	120221731		1938	4123	6061	SO:0001623	5_prime_UTR_variant	401152				CCDS43266.1, CCDS54798.1	4q26	2012-02-24			ENSG00000164096	ENSG00000164096			19225	protein-coding gene	gene with protein product	"HCV F-transactivated protein 1"						Standard	NM_001001701		Approved		uc021xrf.1	Q8WVX3	OTTHUMG00000161333	ENST00000504110.1:c.-41A>G	chr4.hg19:g.120221731T>C			Q6J203	Missense_Mutation	SNP	ENST00000504110.1	hg19	CCDS43266.1	.	.	.	.	.	.	.	.	.	.	T	13.59	2.283765	0.40394	.	.	ENSG00000164096	ENST00000399075	T	0.35236	1.32	4.69	-9.37	0.00626	.	.	.	.	.	T	0.22513	0.0543	.	.	.	0.09310	N	1.0	.	.	.	.	.	.	T	0.40534	-0.9558	5	0.72032	D	0.01	3.2825	1.6478	0.02765	0.1686:0.1153:0.2784:0.4377	.	.	.	.	R	120	ENSP00000382026:H120R	ENSP00000382026:H120R	H	-	2	0	C4orf3	120441179	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.183000	0.01255	-1.509000	0.01798	-1.100000	0.02121	CAT		0.622	C4orf3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364576.3	NM_001001701		C	120221731	T	C	120221731	1	2	802	0	1	0	0	0	0	0	0	0	2262	1464	51	3		3	C4orf3	4	120221731	5'UTR	SNP	T	TCGA-UZ-A9PN-01A-11D-A382-10		120221731	70932545	14	47790											
NNT	23530	hgsc.bcm.edu	37	5	43624161	43624161	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9PN-01A-11D-A382-10	TCGA-UZ-A9PN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	206e9cb3-201a-42f0-9d9e-4477dfe96585	9d87e73d-61d7-487c-9e1b-4dbc1285612b	g.chr5:43624161G>A	ENST00000264663.5	+	6	936	c.715G>A	c.(715-717)Ggg>Agg	p.G239R	NNT_ENST00000512996.2_Missense_Mutation_p.G108R|NNT_ENST00000344920.4_Missense_Mutation_p.G239R	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	239					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)					TGGTGTTGCTGGGCTTGCTTC	0.408																																																0													358	327	338					5																	43624161		2203	4300	6503	SO:0001583	missense	23530			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.715G>A	chr5.hg19:g.43624161G>A	ENSP00000264663:p.Gly239Arg		Q16796|Q2TB60|Q8N3V4	Missense_Mutation	SNP	ENST00000264663.5	hg19	CCDS3949.1	.	.	.	.	.	.	.	.	.	.	G	35	5.538687	0.96474	.	.	ENSG00000112992	ENST00000264663;ENST00000344920;ENST00000512996	D;D;D	0.97665	-4.48;-4.48;-4.48	6.04	6.04	0.98038	Alanine dehydrogenase/pyridine nucleotide transhydrogenase, conserved site-2 (1);Alanine dehydrogenase/PNT, C-terminal (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99492	0.9819	H	0.99985	5.235	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97472	1.0041	10	0.87932	D	0	-10.7542	20.5792	0.99380	0.0:0.0:1.0:0.0	.	239	Q13423	NNTM_HUMAN	R	239;239;108	ENSP00000264663:G239R;ENSP00000343873:G239R;ENSP00000426343:G108R	ENSP00000264663:G239R	G	+	1	0	NNT	43659918	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.334000	0.96470	2.873000	0.98535	0.561000	0.74099	GGG		0.408	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977		A	43624161	G	A	43624161	3	1	802	1	0	0	0	0	1	0	0	0	10512	1348	47	2	733	2	NNT	5	43624161	Missense_Mutation	SNP	G	TCGA-UZ-A9PN-01A-11D-A382-10		43624161	137291099	15	47791											
HNRNPA0	10949	hgsc.bcm.edu	37	5	137088931	137088931	+	Silent	SNP	G	G	A			TCGA-UZ-A9PN-01A-11D-A382-10	TCGA-UZ-A9PN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	206e9cb3-201a-42f0-9d9e-4477dfe96585	9d87e73d-61d7-487c-9e1b-4dbc1285612b	g.chr5:137088931G>A	ENST00000314940.4	-	1	1108	c.825C>T	c.(823-825)ggC>ggT	p.G275G		NM_006805.3	NP_006796.1	Q13151	ROA0_HUMAN	heterogeneous nuclear ribonucleoprotein A0	275	Gly-rich.				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)	p.G275G(1)		large_intestine(1)|lung(2)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			Tgcctccaccgccgccgccgc	0.632																																																1	Substitution - coding silent(1)	large_intestine(1)											9	13	11					5																	137088931		1925	3891	5816	SO:0001819	synonymous_variant	10949			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.825C>T	chr5.hg19:g.137088931G>A			Q6IB18	Silent	SNP	ENST00000314940.4	hg19	CCDS4193.1																																																																																				0.632	HNRNPA0-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251221.1	NM_006805		A	137088931	G	A	137088931	2	1	802	1	0	0	0	0	0	0	0	1	7258	1074	38	1		1	HNRNPA0	5	137088931	Silent	SNP	G	TCGA-UZ-A9PN-01A-11D-A382-10	93464770	137088931	43826329	16	47792											
PCDHB15	56121	hgsc.bcm.edu	37	5	140626523	140626523	+	Silent	SNP	C	C	T			TCGA-UZ-A9PN-01A-11D-A382-10	TCGA-UZ-A9PN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	206e9cb3-201a-42f0-9d9e-4477dfe96585	9d87e73d-61d7-487c-9e1b-4dbc1285612b	g.chr5:140626523C>T	ENST00000231173.3	+	1	1377	c.1377C>T	c.(1375-1377)ttC>ttT	p.F459F		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	459	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)			ACACCCTGTTCGTCCGCGAGA	0.627																																																0													83	87	86					5																	140626523		2203	4297	6500	SO:0001819	synonymous_variant	56121			AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"Cadherins / Protocadherins : Clustered"	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.1377C>T	chr5.hg19:g.140626523C>T			Q8IUX5	Silent	SNP	ENST00000231173.3	hg19	CCDS4257.1																																																																																				0.627	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935		T	140626523	C	T	140626523	2	4	802	1	0	0	0	0	0	0	0	1	11542	883	31	1		1	PCDHB15	5	140626523	Silent	SNP	C	TCGA-UZ-A9PN-01A-11D-A382-10	3537592	140626523	40288737	17	47793											
C5orf45	51149	hgsc.bcm.edu	37	5	179267940	179267940	+	Missense_Mutation	SNP	C	C	T	rs112467347		TCGA-UZ-A9PN-01A-11D-A382-10	TCGA-UZ-A9PN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	206e9cb3-201a-42f0-9d9e-4477dfe96585	9d87e73d-61d7-487c-9e1b-4dbc1285612b	g.chr5:179267940C>T	ENST00000292586.6	-	6	559	c.469G>A	c.(469-471)Gtc>Atc	p.V157I	C5orf45_ENST00000523084.1_Missense_Mutation_p.V23I|C5orf45_ENST00000518219.1_Missense_Mutation_p.V157I|C5orf45_ENST00000403396.2_Missense_Mutation_p.V199I|C5orf45_ENST00000376931.2_Missense_Mutation_p.V102I|C5orf45_ENST00000520698.1_Missense_Mutation_p.V102I|C5orf45_ENST00000523267.1_Intron|C5orf45_ENST00000521333.1_Intron|C5orf45_ENST00000518235.1_Missense_Mutation_p.V157I	NM_016175.3	NP_057259.2	Q6NTE8	CE045_HUMAN	chromosome 5 open reading frame 45	157										breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						GGAGGCTGGACGGTGCTCCTG	0.632																																																0								C	ILE/VAL,ILE/VAL	0,4406		0,0,2203	51	42	45		304,469	1.7	0	5	dbSNP_132	45	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	C5orf45	NM_001017987.2,NM_016175.3	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	102/289,157/344	179267940	1,13005	2203	4300	6503	SO:0001583	missense	51149				CCDS34318.1, CCDS34319.1	5q35.3	2008-07-10			ENSG00000161010	ENSG00000161010			30817	protein-coding gene	gene with protein product	"truncated calcium binding protein"						Standard	NM_016175		Approved	MGC65027, MGC78537, DKFZp686L2452, LOC51149	uc003mla.3	Q6NTE8	OTTHUMG00000163490	ENST00000292586.6:c.469G>A	chr5.hg19:g.179267940C>T	ENSP00000292586:p.Val157Ile		B5MD09|E9PAK6|Q7Z3D8|Q9BUC1|Q9UN54	Missense_Mutation	SNP	ENST00000292586.6	hg19	CCDS34319.1	.	.	.	.	.	.	.	.	.	.	C	2.766	-0.256704	0.05829	0.0	1.16E-4	ENSG00000161010	ENST00000403396;ENST00000518235;ENST00000520698;ENST00000376931;ENST00000518219;ENST00000523084;ENST00000292586	T;T;T;T;T;T;T	0.35789	1.78;1.84;1.69;2.06;1.86;1.29;3.02	2.61	1.74	0.24563	.	1.280390	0.05906	N	0.630909	T	0.19565	0.0470	N	0.17674	0.51	0.09310	N	1	B;B;B;B;B	0.20780	0.005;0.005;0.003;0.003;0.048	B;B;B;B;B	0.08055	0.002;0.003;0.002;0.003;0.003	T	0.20773	-1.0265	10	0.06365	T	0.9	0.2268	5.6775	0.17757	0.0:0.8445:0.0:0.1555	.	102;157;102;157;199	E7EMV9;B7Z1T6;E9PAK6;Q6NTE8;Q6NTE8-2	.;.;.;CE045_HUMAN;.	I	199;157;102;102;157;23;157	ENSP00000384599:V199I;ENSP00000430298:V157I;ENSP00000427849:V102I;ENSP00000366130:V102I;ENSP00000428460:V157I;ENSP00000429107:V23I;ENSP00000292586:V157I	ENSP00000292586:V157I	V	-	1	0	C5orf45	179200546	0.000000	0.05858	0.002000	0.10522	0.015000	0.08874	-0.217000	0.09253	0.685000	0.31468	-0.263000	0.10527	GTC		0.632	C5orf45-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373760.2	NM_016175		T	179267940	C	T	179267940	3	4	802	1	0	0	0	0	1	0	0	0	2306	536	19	1	570	1	C5orf45	5	179267940	Missense_Mutation	SNP	C	TCGA-UZ-A9PN-01A-11D-A382-10	38641417	179267940	1647320	18	47794											
HIVEP1	3096	hgsc.bcm.edu	37	6	12163682	12163682	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9PN-01A-11D-A382-10	TCGA-UZ-A9PN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	206e9cb3-201a-42f0-9d9e-4477dfe96585	9d87e73d-61d7-487c-9e1b-4dbc1285612b	g.chr6:12163682G>A	ENST00000379388.2	+	9	7477	c.7145G>A	c.(7144-7146)aGc>aAc	p.S2382N	HIVEP1_ENST00000541134.1_Missense_Mutation_p.S247N	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2382					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)				CATTTGTTTAGCCACCTTCCT	0.522																																																0													96	103	101					6																	12163682		2081	4225	6306	SO:0001583	missense	3096			J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"Zinc fingers, C2H2-type"	4920	protein-coding gene	gene with protein product		194540	"human immunodeficiency virus type I enhancer-binding protein 1", "zinc finger protein 40"	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.7145G>A	chr6.hg19:g.12163682G>A	ENSP00000368698:p.Ser2382Asn		B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	hg19	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	G	33	5.249744	0.95305	.	.	ENSG00000095951	ENST00000379388;ENST00000541134;ENST00000542327	T;T	0.62105	1.47;0.05	6.03	6.03	0.97812	.	0.000000	0.40640	N	0.001057	T	0.78020	0.4218	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.78102	-0.2335	10	0.72032	D	0.01	-21.0673	20.5666	0.99351	0.0:0.0:1.0:0.0	.	2382	P15822	ZEP1_HUMAN	N	2382;247;364	ENSP00000368698:S2382N;ENSP00000445617:S247N	ENSP00000368698:S2382N	S	+	2	0	HIVEP1	12271668	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	9.041000	0.93788	2.854000	0.98071	0.655000	0.94253	AGC		0.522	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		A	12163682	G	A	12163682	3	1	802	1	0	0	0	0	1	0	0	0	7188	971	34	2	7175	2	HIVEP1	6	12163682	Missense_Mutation	SNP	G	TCGA-UZ-A9PN-01A-11D-A382-10		12163682	158951385	19	47795											
DAXX	1616	hgsc.bcm.edu	37	6	33289303	33289303	+	Silent	SNP	C	C	T			TCGA-UZ-A9PN-01A-11D-A382-10	TCGA-UZ-A9PN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	206e9cb3-201a-42f0-9d9e-4477dfe96585	9d87e73d-61d7-487c-9e1b-4dbc1285612b	g.chr6:33289303C>T	ENST00000374542.5	-	3	453	c.249G>A	c.(247-249)gaG>gaA	p.E83E	DAXX_ENST00000414083.2_Silent_p.E8E|DAXX_ENST00000266000.6_Silent_p.E83E|DAXX_ENST00000477162.1_Intron	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	83	Necessary for interaction with USP7 and ATRX.				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)			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						ATGGGACCACCTCAGGGTGGT	0.547			"Mis, F, N"		Pancreatic neuroendocrine tumors. Paediatric GBM																																		Rec	yes		6	6p21.3	1616	death-domain associated protein		E	0													57	62	60					6																	33289303		2203	4300	6503	SO:0001819	synonymous_variant	1616			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.249G>A	chr6.hg19:g.33289303C>T			B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Silent	SNP	ENST00000374542.5	hg19	CCDS4776.1																																																																																				0.547	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076403.1			T	33289303	C	T	33289303	2	4	802	1	0	0	0	0	0	0	0	1	4245	680	24	2		2	DAXX	6	33289303	Silent	SNP	C	TCGA-UZ-A9PN-01A-11D-A382-10	21125621	33289303	137825764	20	47796											
ASCC3	10973	hgsc.bcm.edu	37	6	101109798	101109798	+	Missense_Mutation	SNP	C	C	T			TCGA-UZ-A9PN-01A-11D-A382-10	TCGA-UZ-A9PN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	206e9cb3-201a-42f0-9d9e-4477dfe96585	9d87e73d-61d7-487c-9e1b-4dbc1285612b	g.chr6:101109798C>T	ENST00000369162.2	-	16	2931	c.2587G>A	c.(2587-2589)Gaa>Aaa	p.E863K		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	863	Helicase C-terminal 1. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		ATTATTCCTTCCCCAAATTTG	0.403																																																0													170	164	166					6																	101109798		2203	4300	6503	SO:0001583	missense	10973			AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"RNA helicase family"	614217	"helicase, ATP binding 1"	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.2587G>A	chr6.hg19:g.101109798C>T	ENSP00000358159:p.Glu863Lys		E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	hg19	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.215570	0.79352	.	.	ENSG00000112249	ENST00000369162	D	0.91464	-2.85	5.76	5.76	0.90799	Helicase, C-terminal (1);	0.105493	0.64402	N	0.000005	D	0.91178	0.7221	L	0.55990	1.75	0.80722	D	1	P	0.52316	0.952	P	0.52598	0.703	D	0.90088	0.4175	10	0.48119	T	0.1	.	20.3431	0.98773	0.0:1.0:0.0:0.0	.	863	Q8N3C0	HELC1_HUMAN	K	863	ENSP00000358159:E863K	ENSP00000358159:E863K	E	-	1	0	ASCC3	101216519	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.626000	0.61269	2.880000	0.98712	0.650000	0.86243	GAA		0.403	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828		T	101109798	C	T	101109798	3	4	802	1	0	0	0	0	1	0	0	0	1033	864	30	2	4129	2	ASCC3	6	101109798	Missense_Mutation	SNP	C	TCGA-UZ-A9PN-01A-11D-A382-10	67820495	101109798	70005269	21	47797											
COL1A2	1278	hgsc.bcm.edu	37	7	94041426	94041426	+	Missense_Mutation	SNP	G	G	T			TCGA-UZ-A9PN-01A-11D-A382-10	TCGA-UZ-A9PN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	206e9cb3-201a-42f0-9d9e-4477dfe96585	9d87e73d-61d7-487c-9e1b-4dbc1285612b	g.chr7:94041426G>T	ENST00000297268.6	+	24	1868	c.1397G>T	c.(1396-1398)gGt>gTt	p.G466V		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	466			Missing (in OI2). {ECO:0000269|PubMed:18996919}.		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)	GGAAAAGAAGGTCCTGTCGTA	0.368										HNSCC(75;0.22)																																						0													93	88	90					7																	94041426		2203	4300	6503	SO:0001583	missense	1278			Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"Collagens"	2198	protein-coding gene	gene with protein product	"alpha 2(I)-collagen", "alpha-2 collagen type I", "type I procollagen", "collagen I, alpha-2 polypeptide", "collagen of skin, tendon and bone, alpha-2 chain"	120160	"osteogenesis imperfecta type IV"	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.1397G>T	chr7.hg19:g.94041426G>T	ENSP00000297268:p.Gly466Val		P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	hg19	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.760033	0.49468	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.99186	-5.53	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.99548	0.9838	H	0.94698	3.57	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98372	1.0554	10	0.87932	D	0	.	20.5471	0.99284	0.0:0.0:1.0:0.0	.	466	P08123	CO1A2_HUMAN	V	466;467	ENSP00000297268:G466V	ENSP00000297268:G466V	G	+	2	0	COL1A2	93879362	1.000000	0.71417	0.977000	0.42913	0.382000	0.30200	9.825000	0.99386	2.941000	0.99782	0.655000	0.94253	GGT		0.368	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		T	94041426	G	T	94041426	3	4	802	1	0	0	0	0	1	0	0	0	3680	1261	44	4	1491	4	COL1A2	7	94041426	Missense_Mutation	SNP	G	TCGA-UZ-A9PN-01A-11D-A382-10		94041426	65097237	22	47798											
AGK	55750	hgsc.bcm.edu	37	7	141352709	141352709	+	Frame_Shift_Del	DEL	A	A	-			TCGA-UZ-A9PN-01A-11D-A382-10	TCGA-UZ-A9PN-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	206e9cb3-201a-42f0-9d9e-4477dfe96585	9d87e73d-61d7-487c-9e1b-4dbc1285612b	g.chr7:141352709delA	ENST00000355413.4	+	16	1514	c.1254delA	c.(1252-1254)acafs	p.T418fs	RP5-894A10.2_ENST00000467537.1_RNA|AGK_ENST00000473247.1_Frame_Shift_Del_p.T390fs	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase	418					ceramide biosynthetic process (GO:0046513)|glycerolipid metabolic process (GO:0046486)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acylglycerol kinase activity (GO:0047620)|ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					AGATGCTCACAAGCCCCACCC	0.542																																																0													82	79	80					7																	141352709		2203	4300	6503	SO:0001589	frameshift_variant	55750			BC022777	CCDS5865.1	7q34	2010-05-04	2007-01-11	2007-01-11	ENSG00000006530	ENSG00000006530	2.7.1.94		21869	protein-coding gene	gene with protein product		610345	"multiple substrate lipid kinase"	MULK		15252046, 15939762, 17135245	Standard	NM_018238		Approved	FLJ10842	uc003vwi.2	Q53H12	OTTHUMG00000157499	ENST00000355413.4:c.1254delA	chr7.hg19:g.141352709delA	ENSP00000347581:p.Thr418fs		Q75KN1|Q96GC3|Q9NP48	Frame_Shift_Del	DEL	ENST00000355413.4	hg19	CCDS5865.1																																																																																				0.542	AGK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348969.1	NM_018238		-	141352709	A	-	141352709	7	5	802	1	0	1	0	1	0	0	0	0	383	117	5	0	1312	0	AGK	7	141352709	Frame_Shift_Del	DEL	A	TCGA-UZ-A9PN-01A-11D-A382-10	47311283	141352709	17785954	23	47799											
ST18	9705	hgsc.bcm.edu	37	8	53025847	53025847	+	Missense_Mutation	SNP	T	T	C			TCGA-UZ-A9PN-01A-11D-A382-10	TCGA-UZ-A9PN-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	206e9cb3-201a-42f0-9d9e-4477dfe96585	9d87e73d-61d7-487c-9e1b-4dbc1285612b	g.chr8:53025847T>C	ENST00000276480.7	-	26	3738	c.3055A>G	c.(3055-3057)Atg>Gtg	p.M1019V		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	1019					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)				TTGCTGTACATATCTGTGAGT	0.448																																																0													159	138	145					8																	53025847		2203	4300	6503	SO:0001583	missense	9705			AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"Zinc fingers, C2HC-type containing"	18695	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 3"		"zinc finger protein 387", "suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.3055A>G	chr8.hg19:g.53025847T>C	ENSP00000276480:p.Met1019Val		Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	hg19	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	T	19.92	3.916209	0.73098	.	.	ENSG00000147488	ENST00000276480	T	0.56103	0.48	5.97	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.69024	0.3065	M	0.67397	2.05	0.58432	D	0.999994	D	0.59767	0.986	D	0.69654	0.965	T	0.71951	-0.4437	10	0.87932	D	0	-17.6121	13.4666	0.61258	0.0:0.0:0.1306:0.8694	.	1019	O60284	ST18_HUMAN	V	1019	ENSP00000276480:M1019V	ENSP00000276480:M1019V	M	-	1	0	ST18	53188400	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.040000	0.89188	1.063000	0.40649	0.477000	0.44152	ATG		0.448	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			C	53025847	T	C	53025847	3	2	802	1	0	0	0	0	1	0	0	0	15217	1406	49	3	92	3	ST18	8	53025847	Missense_Mutation	SNP	T	TCGA-UZ-A9PN-01A-11D-A382-10		53025847	93338175	24	47800											
TOPORS	10210	hgsc.bcm.edu	37	9	32542179	32542179	+	Missense_Mutation	SNP	T	T	C			TCGA-UZ-A9PN-01A-11D-A382-10	TCGA-UZ-A9PN-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	206e9cb3-201a-42f0-9d9e-4477dfe96585	9d87e73d-61d7-487c-9e1b-4dbc1285612b	g.chr9:32542179T>C	ENST00000360538.2	-	3	2460	c.2344A>G	c.(2344-2346)Acc>Gcc	p.T782A	TOPORS_ENST00000379858.1_Missense_Mutation_p.T717A	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	782	Arg-rich.|Interaction with TOP1.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		TCAGTCCCGGTAGATGCAGTC	0.443																																																0													105	104	104					9																	32542179		2203	4300	6503	SO:0001583	missense	10210			AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"RING-type (C3HC4) zinc fingers"	21653	protein-coding gene	gene with protein product		609507	"retinitis pigmentosa 31 (autosomal dominant)", "topoisomerase I binding, arginine/serine-rich"	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.2344A>G	chr9.hg19:g.32542179T>C	ENSP00000353735:p.Thr782Ala		O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	ENST00000360538.2	hg19	CCDS6527.1	.	.	.	.	.	.	.	.	.	.	T	3.362	-0.130299	0.06753	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.14266	2.52;2.52	6.01	3.7	0.42460	.	0.125216	0.36972	N	0.002314	T	0.04003	0.0112	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.41233	-0.9520	10	0.07175	T	0.84	-7.1549	3.2108	0.06682	0.0:0.2476:0.2157:0.5367	.	782	Q9NS56	TOPRS_HUMAN	A	782;717	ENSP00000353735:T782A;ENSP00000369187:T717A	ENSP00000353735:T782A	T	-	1	0	TOPORS	32532179	0.000000	0.05858	0.986000	0.45419	0.940000	0.58332	-0.893000	0.04127	1.115000	0.41800	0.528000	0.53228	ACC		0.443	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802		C	32542179	T	C	32542179	3	2	802	1	0	0	0	0	1	0	0	0	16375	1638	57	3	797	3	TOPORS	9	32542179	Missense_Mutation	SNP	T	TCGA-UZ-A9PN-01A-11D-A382-10		32542179	108671252	25	47801											
CERCAM	51148	hgsc.bcm.edu	37	9	131183331	131183331	+	Missense_Mutation	SNP	C	C	T			TCGA-UZ-A9PN-01A-11D-A382-10	TCGA-UZ-A9PN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	206e9cb3-201a-42f0-9d9e-4477dfe96585	9d87e73d-61d7-487c-9e1b-4dbc1285612b	g.chr9:131183331C>T	ENST00000372838.4	+	1	573	c.175C>T	c.(175-177)Ccc>Tcc	p.P59S	CERCAM_ENST00000372842.1_5'UTR|CERCAM_ENST00000493788.1_3'UTR	NM_016174.4	NP_057258.3	Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	59					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|leukocyte cell-cell adhesion (GO:0007159)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						GCTGGACTACCCCCGGGCCAG	0.721																																																0													4	8	7					9																	131183331		654	1516	2170	SO:0001583	missense	51148			AB040935	CCDS6901.2, CCDS69675.1	9q34.13	2008-02-05	2007-10-17	2007-10-17	ENSG00000167123	ENSG00000167123			23723	protein-coding gene	gene with protein product	"glycosyltransferase 25 domain containing 3"		"cerebral cell adhesion molecule"	CEECAM1		10608765	Standard	NM_016174		Approved	GLT25D3, CerCAM	uc004buz.4	Q5T4B2	OTTHUMG00000020747	ENST00000372838.4:c.175C>T	chr9.hg19:g.131183331C>T	ENSP00000361929:p.Pro59Ser		A7MD00|C4AMA2|Q0VDF3|Q2VPJ4|Q4KMP2|Q5T4B1|Q8N107|Q96EZ5|Q9P226|Q9UMW5	Missense_Mutation	SNP	ENST00000372838.4	hg19	CCDS6901.2	.	.	.	.	.	.	.	.	.	.	C	34	5.403639	0.96051	.	.	ENSG00000167123	ENST00000372838;ENST00000413863	D	0.85484	-1.99	4.54	4.54	0.55810	.	0.000000	0.85682	D	0.000000	D	0.92786	0.7706	M	0.86502	2.82	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.93976	0.7254	10	0.87932	D	0	1.6041	14.813	0.70010	0.0:1.0:0.0:0.0	.	59	Q5T4B2	GT253_HUMAN	S	59	ENSP00000361929:P59S	ENSP00000361929:P59S	P	+	1	0	CERCAM	130223152	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	6.807000	0.75201	2.351000	0.79841	0.491000	0.48974	CCC		0.721	CERCAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054435.2	NM_016174		T	131183331	C	T	131183331	3	4	802	1	0	0	0	0	1	0	0	0	3268	623	22	2	177	2	CERCAM	9	131183331	Missense_Mutation	SNP	C	TCGA-UZ-A9PN-01A-11D-A382-10	98641152	131183331	10030100	26	47802											
PDHX	8050	hgsc.bcm.edu	37	11	35006233	35006233	+	Silent	SNP	T	T	C			TCGA-UZ-A9PN-01A-11D-A382-10	TCGA-UZ-A9PN-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	206e9cb3-201a-42f0-9d9e-4477dfe96585	9d87e73d-61d7-487c-9e1b-4dbc1285612b	g.chr11:35006233T>C	ENST00000227868.4	+	9	1224	c.1140T>C	c.(1138-1140)gaT>gaC	p.D380D	PDHX_ENST00000477173.3_3'UTR|PDHX_ENST00000448838.3_Silent_p.D365D|PDHX_ENST00000430469.2_Silent_p.D153D			O00330	ODPX_HUMAN	pyruvate dehydrogenase complex, component X	380					cellular metabolic process (GO:0044237)|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)	transferase activity, transferring acyl groups (GO:0016746)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	16	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)			TCATAAAAGATGCTGCTGCTA	0.393																																																0													129	126	127					11																	35006233		2202	4298	6500	SO:0001819	synonymous_variant	8050			U82328	CCDS7896.1, CCDS44569.1, CCDS53616.1	11p13	2008-02-05			ENSG00000110435	ENSG00000110435			21350	protein-coding gene	gene with protein product		608769				9467010, 12372595	Standard	NM_003477		Approved	E3BP, proX, PDX1, OPDX, DLDBP	uc001mvt.3	O00330	OTTHUMG00000166491	ENST00000227868.4:c.1140T>C	chr11.hg19:g.35006233T>C			B4DW62|D3DR11|E9PB14|E9PBP7|O60221|Q96FV8|Q99783	Silent	SNP	ENST00000227868.4	hg19	CCDS7896.1	.	.	.	.	.	.	.	.	.	.	T	2.267	-0.367827	0.05069	.	.	ENSG00000110435	ENST00000526309	.	.	.	5.64	3.35	0.38373	.	.	.	.	.	T	0.54062	0.1835	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45205	-0.9277	4	.	.	.	-13.8697	5.4179	0.16384	0.0:0.1506:0.1472:0.7022	.	.	.	.	T	68	.	.	M	+	2	0	PDHX	34962809	1.000000	0.71417	0.996000	0.52242	0.240000	0.25518	0.591000	0.23969	0.434000	0.26340	0.533000	0.62120	ATG		0.393	PDHX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390017.1	NM_003477		C	35006233	T	C	35006233	2	2	802	1	0	0	0	0	0	0	0	1	11669	1461	51	3		3	PDHX	11	35006233	Silent	SNP	T	TCGA-UZ-A9PN-01A-11D-A382-10		35006233	100000283	27	47803											
GLYAT	10249	hgsc.bcm.edu	37	11	58477502	58477502	+	Missense_Mutation	SNP	G	G	T			TCGA-UZ-A9PN-01A-11D-A382-10	TCGA-UZ-A9PN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	206e9cb3-201a-42f0-9d9e-4477dfe96585	9d87e73d-61d7-487c-9e1b-4dbc1285612b	g.chr11:58477502G>T	ENST00000344743.3	-	6	769	c.628C>A	c.(628-630)Ctg>Atg	p.L210M	GLYAT_ENST00000529732.1_Missense_Mutation_p.L210M	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	210					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)	TCAGGCCCCAGGAGACAGCAG	0.542																																																0													73	77	76					11																	58477502		2201	4295	6496	SO:0001583	missense	10249			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.628C>A	chr11.hg19:g.58477502G>T	ENSP00000340200:p.Leu210Met		O14833|Q96QK7	Missense_Mutation	SNP	ENST00000344743.3	hg19	CCDS7970.1	.	.	.	.	.	.	.	.	.	.	G	10.51	1.369214	0.24771	.	.	ENSG00000149124	ENST00000344743;ENST00000529732	T;T	0.18657	2.2;2.2	6.06	3.17	0.36434	Acyl-CoA N-acyltransferase (2);Glycine N-acyltransferase, C-terminal (1);	0.397208	0.22261	N	0.062407	T	0.44664	0.1304	M	0.83384	2.64	0.09310	N	1	D	0.71674	0.998	D	0.64237	0.923	T	0.37174	-0.9717	10	0.49607	T	0.09	-24.7357	11.5202	0.50546	0.2089:0.0:0.7911:0.0	.	210	Q6IB77	GLYAT_HUMAN	M	210	ENSP00000340200:L210M;ENSP00000431688:L210M	ENSP00000340200:L210M	L	-	1	2	GLYAT	58234078	0.549000	0.26481	0.197000	0.23402	0.004000	0.04260	1.080000	0.30779	0.151000	0.19162	-0.813000	0.03139	CTG		0.542	GLYAT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394593.1			T	58477502	G	T	58477502	3	4	802	1	0	0	0	0	1	0	0	0	6481	991	35	4	266	4	GLYAT	11	58477502	Missense_Mutation	SNP	G	TCGA-UZ-A9PN-01A-11D-A382-10	23471269	58477502	76529014	28	47804											
GPR137	56834	hgsc.bcm.edu	37	11	64056714	64056714	+	Missense_Mutation	SNP	C	C	A			TCGA-UZ-A9PN-01A-11D-A382-10	TCGA-UZ-A9PN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	206e9cb3-201a-42f0-9d9e-4477dfe96585	9d87e73d-61d7-487c-9e1b-4dbc1285612b	g.chr11:64056714C>A	ENST00000313074.3	+	7	1236	c.1131C>A	c.(1129-1131)caC>caA	p.H377Q	KCNK4_ENST00000394525.2_5'Flank|GPR137_ENST00000539851.1_3'UTR|GPR137_ENST00000438980.2_3'UTR|KCNK4_ENST00000538767.1_5'Flank|GPR137_ENST00000411458.1_Missense_Mutation_p.H435Q|KCNK4_ENST00000422670.2_5'Flank|GPR137_ENST00000377702.4_3'UTR|RP11-783K16.10_ENST00000539086.1_RNA	NM_020155.3	NP_064540.3	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	377						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						GTCCCCCTCACCCTAGGCCCC	0.657																																																0													82	84	83					11																	64056714		2201	4297	6498	SO:0001583	missense	56834			AJ250392	CCDS8066.1, CCDS53655.1, CCDS53656.1, CCDS53657.1, CCDS53658.1	11q13.1	2014-02-12	2006-01-26		ENSG00000173264	ENSG00000173264		"GPCR / Unclassified : 7TM orphan receptors"	24300	protein-coding gene	gene with protein product						10873569, 12732197	Standard	NM_001170726		Approved	C11orf4, GPR137A, TM7SF1L1	uc010rni.2	Q96N19	OTTHUMG00000167817	ENST00000313074.3:c.1131C>A	chr11.hg19:g.64056714C>A	ENSP00000321698:p.His377Gln		B4DTG7|B7Z7M1|Q4G0Y9|Q8N4K6	Missense_Mutation	SNP	ENST00000313074.3	hg19	CCDS8066.1	.	.	.	.	.	.	.	.	.	.	c	3.770	-0.047901	0.07407	.	.	ENSG00000173264	ENST00000411458;ENST00000313074	T;T	0.44482	0.92;0.97	5.27	-10.5	0.00291	.	4.032870	0.00357	N	0.000023	T	0.16599	0.0399	N	0.08118	0	0.09310	N	0.999993	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.17961	-1.0352	10	0.66056	D	0.02	-0.3046	0.0787	0.00029	0.2624:0.2081:0.2079:0.3215	.	435;377	B4DTG7;Q96N19	.;G137A_HUMAN	Q	435;377	ENSP00000411827:H435Q;ENSP00000321698:H377Q	ENSP00000321698:H377Q	H	+	3	2	GPR137	63813290	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-2.168000	0.01270	-2.053000	0.00901	-0.215000	0.12644	CAC		0.657	GPR137-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396412.1	NM_020155		A	64056714	C	A	64056714	3	1	802	1	0	0	0	0	1	0	0	0	6647	506	18	4	1445	4	GPR137	11	64056714	Missense_Mutation	SNP	C	TCGA-UZ-A9PN-01A-11D-A382-10	5579212	64056714	70949802	29	47805											
RELA	5970	hgsc.bcm.edu	37	11	65422254	65422277	+	In_Frame_Del	DEL	AGGGCCTGGGGCTAGGACTGGGAC	AGGGCCTGGGGCTAGGACTGGGAC	-			TCGA-UZ-A9PN-01A-11D-A382-10	TCGA-UZ-A9PN-10A-01D-A385-10	AGGGCCTGGGGCTAGGACTGGGAC	AGGGCCTGGGGCTAGGACTGGGAC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	206e9cb3-201a-42f0-9d9e-4477dfe96585	9d87e73d-61d7-487c-9e1b-4dbc1285612b	g.chr11:65422254_65422277delAGGGCCTGGGGCTAGGACTGGGAC	ENST00000406246.3	-	11	1489_1512	c.1228_1251delGTCCCAGTCCTAGCCCCAGGCCCT	c.(1228-1251)gtcccagtcctagccccaggccctdel	p.VPVLAPGP410del	RELA_ENST00000308639.9_In_Frame_Del_p.VPVLAPGP407del|RELA_ENST00000525693.1_3'UTR	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	410					acetaldehyde metabolic process (GO:0006117)|aging (GO:0007568)|cellular defense response (GO:0006968)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|Fc-epsilon receptor signaling pathway (GO:0038095)|hair follicle development (GO:0001942)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|liver development (GO:0001889)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of Schwann cell differentiation (GO:0014040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of inflammatory response (GO:0050727)|response to amino acid (GO:0043200)|response to cAMP (GO:0051591)|response to cobalamin (GO:0033590)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to interleukin-1 (GO:0070555)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to muramyl dipeptide (GO:0032495)|response to organic substance (GO:0010033)|response to progesterone (GO:0032570)|response to UV-B (GO:0010224)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phosphate ion binding (GO:0042301)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|repressing transcription factor binding (GO:0070491)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						CAGCCTGAGGAgggcctggggctaggactgggacaggggctggg	0.696																																																0																																										SO:0001651	inframe_deletion	5970			Z22951	CCDS31609.1, CCDS44651.1, CCDS73322.1	11q13	2013-07-09	2013-07-09		ENSG00000173039	ENSG00000173039			9955	protein-coding gene	gene with protein product		164014	"nuclear factor of kappa light polypeptide gene enhancer in B-cells 3"	NFKB3		2001591	Standard	NM_021975		Approved	p65	uc001ofg.3	Q04206	OTTHUMG00000166566	ENST00000406246.3:c.1228_1251delGTCCCAGTCCTAGCCCCAGGCCCT	chr11.hg19:g.65422254_65422277delAGGGCCTGGGGCTAGGACTGGGAC	ENSP00000384273:p.Val410_Pro417del		Q6GTV1|Q6SLK1	In_Frame_Del	DEL	ENST00000406246.3	hg19	CCDS31609.1																																																																																				0.696	RELA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390457.2	NM_021975		-	65422277	AGGGCCTGGGGCTAGGACTGGGAC	-	65422254	7	5	802	1	0	1	0	1	0	0	0	0	13222	291	11	0	408	0	RELA	11	65422254	In_Frame_Del	DEL	AGGGCCTGGGGCTAGGACTGGGAC	TCGA-UZ-A9PN-01A-11D-A382-10	1365540	65422254	69584262	30	47806											
TWF1	5756	hgsc.bcm.edu	37	12	44198327	44198327	+	Missense_Mutation	SNP	T	T	C			TCGA-UZ-A9PN-01A-11D-A382-10	TCGA-UZ-A9PN-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	206e9cb3-201a-42f0-9d9e-4477dfe96585	9d87e73d-61d7-487c-9e1b-4dbc1285612b	g.chr12:44198327T>C	ENST00000395510.2	-	2	203	c.74A>G	c.(73-75)tAc>tGc	p.Y25C	TWF1_ENST00000547564.1_5'UTR|TWF1_ENST00000552521.1_5'UTR|TWF1_ENST00000325127.4_Missense_Mutation_p.Y59C|TWF1_ENST00000548315.1_Missense_Mutation_p.Y25C	NM_001242397.1|NM_002822.4	NP_001229326.1|NP_002813.3	Q12792	TWF1_HUMAN	twinfilin actin-binding protein 1	25	ADF-H 1. {ECO:0000255|PROSITE- ProRule:PRU00599}.				barbed-end actin filament capping (GO:0051016)|negative regulation of actin filament polymerization (GO:0030837)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of actin phosphorylation (GO:0043538)|sequestering of actin monomers (GO:0042989)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|myofibril (GO:0030016)|perinuclear region of cytoplasm (GO:0048471)|ruffle membrane (GO:0032587)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|stomach(1)	14	all_cancers(12;0.00125)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.0474)		CAGAAGTCTGTACTTTCCATT	0.284																																																0													42	46	45					12																	44198327		2197	4266	6463	SO:0001583	missense	5756			U02680	CCDS31780.1, CCDS31780.2, CCDS55818.1	12q12	2013-04-25	2013-04-25	2006-11-13					9620	protein-coding gene	gene with protein product		610932	"protein tyrosine kinase 9", "PTK9 protein tyrosine kinase 9", "twinfilin, actin-binding protein, homolog 1 (Drosophila)"	PTK9		7507208	Standard	NM_002822		Approved	A6	uc001rob.3	Q12792		ENST00000395510.2:c.74A>G	chr12.hg19:g.44198327T>C	ENSP00000378886:p.Tyr25Cys		A8K5A8|B3KXS6|B4DLX9|Q59G07|Q5U0B1|Q6FHJ1|Q6FHL6|Q6NUK9|Q86XL6|Q8TCD3	Missense_Mutation	SNP	ENST00000395510.2	hg19	CCDS31780.2	.	.	.	.	.	.	.	.	.	.	T	15.99	2.996118	0.54147	.	.	ENSG00000151239	ENST00000395510;ENST00000325127;ENST00000548315;ENST00000546662	T;T;T;T	0.38240	1.39;1.39;1.39;1.15	5.6	4.46	0.54185	Actin-binding, cofilin/tropomyosin type (3);	0.406531	0.30483	N	0.009534	T	0.57051	0.2027	M	0.79475	2.455	0.80722	D	1	D;D	0.63880	0.969;0.993	D;D	0.67725	0.927;0.953	T	0.58233	-0.7672	10	0.51188	T	0.08	-7.5652	10.7348	0.46117	0.0:0.0743:0.0:0.9257	.	25;25	Q12792-3;Q12792	.;TWF1_HUMAN	C	25;59;25;63	ENSP00000378886:Y25C;ENSP00000321058:Y59C;ENSP00000449428:Y25C;ENSP00000448221:Y63C	ENSP00000321058:Y59C	Y	-	2	0	TWF1	42484594	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.146000	0.58072	0.957000	0.37930	0.482000	0.46254	TAC		0.284	TWF1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403956.1	NM_002822		C	44198327	T	C	44198327	3	2	802	1	0	0	0	0	1	0	0	0	16786	1638	57	3	1010	3	TWF1	12	44198327	Missense_Mutation	SNP	T	TCGA-UZ-A9PN-01A-11D-A382-10		44198327	89653568	31	47807											
HOXC6	3223	hgsc.bcm.edu	37	12	54422350	54422350	+	Silent	SNP	C	C	T			TCGA-UZ-A9PN-01A-11D-A382-10	TCGA-UZ-A9PN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	206e9cb3-201a-42f0-9d9e-4477dfe96585	9d87e73d-61d7-487c-9e1b-4dbc1285612b	g.chr12:54422350C>T	ENST00000243108.4	+	1	209	c.45C>T	c.(43-45)gcC>gcT	p.A15A	RP11-834C11.14_ENST00000512206.1_RNA|HOXC4_ENST00000303406.4_Intron|RP11-834C11.12_ENST00000513209.1_Intron|HOXC6_ENST00000394331.3_Intron	NM_004503.3	NP_004494.1	P09630	HXC6_HUMAN	homeobox C6	15					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system development (GO:0048706)|multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GCCACCTCGCCGGGGGCCAGG	0.527																																																0													75	71	73					12																	54422350		2203	4300	6503	SO:0001819	synonymous_variant	3223				CCDS8871.1, CCDS41792.1	12q13.13	2011-06-20	2005-12-22		ENSG00000197757	ENSG00000197757		"Homeoboxes / ANTP class : HOXL subclass"	5128	protein-coding gene	gene with protein product		142972	"homeo box C6"	HOX3C, HOX3		1973146, 1358459	Standard	NM_153693		Approved		uc001sev.3	P09630	OTTHUMG00000160027	ENST00000243108.4:c.45C>T	chr12.hg19:g.54422350C>T			B2RBV2|Q6DK09	Silent	SNP	ENST00000243108.4	hg19	CCDS8871.1																																																																																				0.527	HOXC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358943.2			T	54422350	C	T	54422350	2	4	802	1	0	0	0	0	0	0	0	1	7317	639	23	1		1	HOXC6	12	54422350	Silent	SNP	C	TCGA-UZ-A9PN-01A-11D-A382-10	10224023	54422350	79429545	32	47808											
ERBB3	2065	hgsc.bcm.edu	37	12	56495550	56495550	+	Missense_Mutation	SNP	C	C	T			TCGA-UZ-A9PN-01A-11D-A382-10	TCGA-UZ-A9PN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	206e9cb3-201a-42f0-9d9e-4477dfe96585	9d87e73d-61d7-487c-9e1b-4dbc1285612b	g.chr12:56495550C>T	ENST00000267101.3	+	28	4180	c.3740C>T	c.(3739-3741)cCc>cTc	p.P1247L	RP11-603J24.9_ENST00000548861.1_Intron|PA2G4_ENST00000303305.6_5'Flank|ERBB3_ENST00000450146.2_Missense_Mutation_p.P604L|ERBB3_ENST00000549832.1_Missense_Mutation_p.P367L|RP11-603J24.17_ENST00000548595.1_RNA|ERBB3_ENST00000415288.2_Missense_Mutation_p.P1188L|PA2G4_ENST00000552766.1_5'Flank|ERBB3_ENST00000553131.1_Missense_Mutation_p.P488L	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	1247					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CACCCTGTACCCATCATGCCC	0.547																																																0													87	73	78					12																	56495550		2203	4300	6503	SO:0001583	missense	2065			M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"lethal congenital contracture syndrome 2"	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.3740C>T	chr12.hg19:g.56495550C>T	ENSP00000267101:p.Pro1247Leu		A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	hg19	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.130261	0.56721	.	.	ENSG00000065361	ENST00000267101;ENST00000450146;ENST00000415288;ENST00000550070;ENST00000553131;ENST00000549832	T;T;T;T;T	0.80824	-1.21;-1.21;-1.2;-1.42;-1.2	5.82	5.82	0.92795	.	0.301833	0.28853	N	0.013924	T	0.73830	0.3637	N	0.19112	0.55	0.46874	D	0.999236	P;P;B	0.45827	0.867;0.79;0.084	B;B;B	0.44085	0.44;0.255;0.051	T	0.76318	-0.3003	10	0.49607	T	0.09	.	17.5929	0.88003	0.0:1.0:0.0:0.0	.	1188;367;1247	P21860-4;B3KWG5;P21860	.;.;ERBB3_HUMAN	L	1247;604;1188;370;488;367	ENSP00000267101:P1247L;ENSP00000399178:P604L;ENSP00000408340:P1188L;ENSP00000449129:P488L;ENSP00000448729:P367L	ENSP00000267101:P1247L	P	+	2	0	ERBB3	54781817	0.990000	0.36364	0.957000	0.39632	0.920000	0.55202	3.899000	0.56288	2.752000	0.94435	0.655000	0.94253	CCC		0.547	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			T	56495550	C	T	56495550	3	4	802	1	0	0	0	0	1	0	0	0	5210	623	22	2	3981	2	ERBB3	12	56495550	Missense_Mutation	SNP	C	TCGA-UZ-A9PN-01A-11D-A382-10	2073200	56495550	77356345	33	47809											
STAB2	55576	hgsc.bcm.edu	37	12	104056744	104056744	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UZ-A9PN-01A-11D-A382-10	TCGA-UZ-A9PN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	206e9cb3-201a-42f0-9d9e-4477dfe96585	9d87e73d-61d7-487c-9e1b-4dbc1285612b	g.chr12:104056744C>T	ENST00000388887.2	+	18	2194	c.1990C>T	c.(1990-1992)Cga>Tga	p.R664*		NM_017564.9	NP_060034.9			stabilin 2									p.R664*(1)		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						TCTGCCCCATCGATGTGATGA	0.468																																																1	Substitution - Nonsense(1)	kidney(1)											131	128	129					12																	104056744		2203	4300	6503	SO:0001587	stop_gained	55576			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.1990C>T	chr12.hg19:g.104056744C>T	ENSP00000373539:p.Arg664*			Nonsense_Mutation	SNP	ENST00000388887.2	hg19	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	C	40	8.530526	0.98850	.	.	ENSG00000136011	ENST00000388887	.	.	.	5.31	4.36	0.52297	.	0.063415	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.4226	0.21752	0.3716:0.542:0.0:0.0864	.	.	.	.	X	664	.	ENSP00000373539:R664X	R	+	1	2	STAB2	102580874	0.890000	0.30428	0.998000	0.56505	0.699000	0.40488	1.183000	0.32041	2.478000	0.83669	0.655000	0.94253	CGA		0.468	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			T	104056744	C	T	104056744	4	4	802	1	0	0	0	0	0	1	0	0	15243	876	31	1	2060	1	STAB2	12	104056744	Nonsense_Mutation	SNP	C	TCGA-UZ-A9PN-01A-11D-A382-10	47561194	104056744	29795151	34	47810											
ZNF770	54989	hgsc.bcm.edu	37	15	35275396	35275396	+	Silent	SNP	A	A	G			TCGA-UZ-A9PN-01A-11D-A382-10	TCGA-UZ-A9PN-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	206e9cb3-201a-42f0-9d9e-4477dfe96585	9d87e73d-61d7-487c-9e1b-4dbc1285612b	g.chr15:35275396A>G	ENST00000356321.4	-	3	584	c.240T>C	c.(238-240)ccT>ccC	p.P80P		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	80					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)		TACATTTAAAAGGCAGACTAT	0.353																																																0													85	85	85					15																	35275396		2201	4298	6499	SO:0001819	synonymous_variant	54989			BC071603	CCDS10042.1	15q14	2013-01-08			ENSG00000198146	ENSG00000198146		"Zinc fingers, C2H2-type"	26061	protein-coding gene	gene with protein product							Standard	NM_014106		Approved	FLJ20582, PRO1914	uc001ziw.3	Q6IQ21	OTTHUMG00000129689	ENST00000356321.4:c.240T>C	chr15.hg19:g.35275396A>G			Q6ZMZ6|Q9NWV2	Silent	SNP	ENST00000356321.4	hg19	CCDS10042.1																																																																																				0.353	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251896.2	NM_014106		G	35275396	A	G	35275396	2	3	802	1	0	0	0	0	0	0	0	1	18148	59	3	3		3	ZNF770	15	35275396	Silent	SNP	A	TCGA-UZ-A9PN-01A-11D-A382-10		35275396	67255996	35	47811											
SPTBN5	51332	hgsc.bcm.edu	37	15	42148681	42148682	+	Frame_Shift_Ins	INS	-	-	G			TCGA-UZ-A9PN-01A-11D-A382-10	TCGA-UZ-A9PN-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	206e9cb3-201a-42f0-9d9e-4477dfe96585	9d87e73d-61d7-487c-9e1b-4dbc1285612b	g.chr15:42148681_42148682insG	ENST00000320955.6	-	53	9150_9151	c.8923_8924insC	c.(8923-8925)cagfs	p.Q2975fs		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2975					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)		CTCCAGCTGCTGCACCCGGGCG	0.693																																																0																																										SO:0001589	frameshift_variant	51332			AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"beta V spectrin"	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.8924dupC	chr15.hg19:g.42148682_42148682dupG	ENSP00000317790:p.Gln2975fs			Frame_Shift_Ins	INS	ENST00000320955.6	hg19																																																																																					0.693	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		G	42148682	-	G	42148681	7	5	802	1	0	1	1	0	0	0	0	0	15127	1580	55	0	2164	0	SPTBN5	15	42148681	Frame_Shift_Ins	INS	-	TCGA-UZ-A9PN-01A-11D-A382-10	6873285	42148681	60382711	36	47812											
SH3GL3	6457	hgsc.bcm.edu	37	15	84228033	84228033	+	Missense_Mutation	SNP	A	A	C			TCGA-UZ-A9PN-01A-11D-A382-10	TCGA-UZ-A9PN-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	206e9cb3-201a-42f0-9d9e-4477dfe96585	9d87e73d-61d7-487c-9e1b-4dbc1285612b	g.chr15:84228033A>C	ENST00000427482.2	+	2	380	c.74A>C	c.(73-75)gAa>gCa	p.E25A	SH3GL3_ENST00000324537.5_Missense_Mutation_p.E33A|SH3GL3_ENST00000535412.1_Missense_Mutation_p.E25A|SH3GL3_ENST00000434347.1_Missense_Mutation_p.E33A	NM_003027.3	NP_003018.3	Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	25	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						AGTGGTGCTGAAGGAACTAAA	0.279											OREG0023396	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													79	79	79					15																	84228033		2203	4299	6502	SO:0001583	missense	6457			AF036271	CCDS10325.2, CCDS73772.1	15q24	2006-11-24			ENSG00000140600	ENSG00000140600			10832	protein-coding gene	gene with protein product		603362				9169142	Standard	NR_026799		Approved	SH3D2C, SH3P13, CNSA3, EEN-B2, HsT19371	uc002bjw.3	Q99963	OTTHUMG00000147361	ENST00000427482.2:c.74A>C	chr15.hg19:g.84228033A>C	ENSP00000391372:p.Glu25Ala	1227	O43553|O43554	Missense_Mutation	SNP	ENST00000427482.2	hg19	CCDS10325.2	.	.	.	.	.	.	.	.	.	.	A	18.62	3.662604	0.67700	.	.	ENSG00000140600	ENST00000427482;ENST00000535412;ENST00000324537;ENST00000434347	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	4.63	3.51	0.40186	BAR (3);	0.053790	0.64402	D	0.000001	T	0.60340	0.2261	M	0.78049	2.395	0.80722	D	1	D;D;D;D	0.89917	0.982;0.978;0.997;1.0	P;P;D;D	0.78314	0.739;0.621;0.976;0.991	T	0.59679	-0.7409	10	0.51188	T	0.08	-14.5796	8.1715	0.31258	0.9036:0.0:0.0964:0.0	.	25;25;25;33	Q8IVP1;Q99963-4;Q99963;Q99963-3	.;.;SH3G3_HUMAN;.	A	25;25;33;33	ENSP00000391372:E25A;ENSP00000439239:E25A;ENSP00000320092:E33A;ENSP00000397871:E33A	ENSP00000320092:E33A	E	+	2	0	SH3GL3	82019037	1.000000	0.71417	0.928000	0.36995	0.996000	0.88848	7.870000	0.87175	0.805000	0.34159	0.460000	0.39030	GAA		0.279	SH3GL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347797.1	NM_003027		C	84228033	A	C	84228033	3	2	802	1	0	0	0	0	1	0	0	0	14258	246	9	5	80	5	SH3GL3	15	84228033	Missense_Mutation	SNP	A	TCGA-UZ-A9PN-01A-11D-A382-10	42079352	84228033	18303359	37	47813											
AGBL1	123624	hgsc.bcm.edu	37	15	87089231	87089231	+	Splice_Site	SNP	A	A	G			TCGA-UZ-A9PN-01A-11D-A382-10	TCGA-UZ-A9PN-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	206e9cb3-201a-42f0-9d9e-4477dfe96585	9d87e73d-61d7-487c-9e1b-4dbc1285612b	g.chr15:87089231A>G	ENST00000441037.2	+	19	2642		c.e19-1		AGBL1_ENST00000389298.3_Splice_Site|AGBL1_ENST00000421325.2_Splice_Site	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						GGGCTATTGTAGGTTTTCTGT	0.428																																																0													133	121	125					15																	87089231		1886	4119	6005	SO:0001630	splice_region_variant	123624			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.2548-1A>G	chr15.hg19:g.87089231A>G			A1A4X5|A6NJH6|C9JHL5	Splice_Site	SNP	ENST00000441037.2	hg19	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.092020	0.76756	.	.	ENSG00000166748	ENST00000441037;ENST00000421325;ENST00000389298	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.981	0.71311	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AGBL1	84890235	1.000000	0.71417	0.938000	0.37757	0.821000	0.46438	8.589000	0.90817	2.320000	0.78422	0.528000	0.53228	.		0.428	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336	Intron	G	87089231	A	G	87089231	5	3	802	1	0	0	0	0	0	0	1	0	375	434	15	3	2616	3	AGBL1	15	87089231	Splice_Site	SNP	A	TCGA-UZ-A9PN-01A-11D-A382-10	2861198	87089231	15442161	38	47814											
RHBDL1	9028	hgsc.bcm.edu	37	16	727363	727363	+	Silent	SNP	G	G	A			TCGA-UZ-A9PN-01A-11D-A382-10	TCGA-UZ-A9PN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	206e9cb3-201a-42f0-9d9e-4477dfe96585	9d87e73d-61d7-487c-9e1b-4dbc1285612b	g.chr16:727363G>A	ENST00000219551.2	+	4	885	c.858G>A	c.(856-858)ctG>ctA	p.L286L	LA16c-313D11.9_ENST00000567091.1_RNA|RHBDL1_ENST00000352681.3_Silent_p.L221L|STUB1_ENST00000565677.1_5'Flank|LA16c-313D11.9_ENST00000571933.1_RNA|STUB1_ENST00000219548.4_5'Flank			O75783	RHBL1_HUMAN	rhomboid, veinlet-like 1 (Drosophila)	286					signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(1)|lung(4)|urinary_tract(3)	9		Hepatocellular(780;0.0218)				GCATCAGCCTGCTCTACCTGG	0.711																																																0													17	14	15					16																	727363		2180	4267	6447	SO:0001819	synonymous_variant	9028			Y17108	CCDS61779.1	16p13.3	2008-02-05	2001-11-28	2003-04-11	ENSG00000103269	ENSG00000103269			10007	protein-coding gene	gene with protein product		603264	"rhomboid (veinlet, Drosophila)-like"	RHBDL		9662444	Standard	NM_001278720		Approved	RRP	uc002cis.1	O75783	OTTHUMG00000121141	ENST00000219551.2:c.858G>A	chr16.hg19:g.727363G>A			A2IDC0|A2IDC1|Q0VAX4|Q9NQ85	Silent	SNP	ENST00000219551.2	hg19	CCDS10418.1																																																																																				0.711	RHBDL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000241619.1	NM_003961		A	727363	G	A	727363	2	1	802	1	0	0	0	0	0	0	0	1	13327	1306	46	2		2	RHBDL1	16	727363	Silent	SNP	G	TCGA-UZ-A9PN-01A-11D-A382-10		727363	89627390	39	47815											
DCTPP1	79077	hgsc.bcm.edu	37	16	30435726	30435726	+	Missense_Mutation	SNP	A	A	T			TCGA-UZ-A9PN-01A-11D-A382-10	TCGA-UZ-A9PN-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	206e9cb3-201a-42f0-9d9e-4477dfe96585	9d87e73d-61d7-487c-9e1b-4dbc1285612b	g.chr16:30435726A>T	ENST00000319285.4	-	3	435	c.341T>A	c.(340-342)cTg>cAg	p.L114Q	ZNF771_ENST00000566625.1_Intron|DCTPP1_ENST00000568434.1_5'UTR|DCTPP1_ENST00000568973.1_5'UTR|DCTPP1_ENST00000565758.1_5'UTR|DCTPP1_ENST00000567983.1_Missense_Mutation_p.L15Q	NM_024096.1	NP_077001.1	Q9H773	DCTP1_HUMAN	dCTP pyrophosphatase 1	114					nucleoside triphosphate catabolic process (GO:0009143)|protein homotetramerization (GO:0051289)	cytosol (GO:0005829)	dCTP diphosphatase activity (GO:0047840)|magnesium ion binding (GO:0000287)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|pyrimidine deoxyribonucleotide binding (GO:0032556)			kidney(1)|large_intestine(3)|upper_aerodigestive_tract(1)	5						TGCTAGCGGCAGATCCACACG	0.612																																																0													62	58	59					16																	30435726		2197	4300	6497	SO:0001583	missense	79077			BC001344	CCDS10680.1	16p11.2	2009-02-11			ENSG00000179958	ENSG00000179958	3.6.1.12		28777	protein-coding gene	gene with protein product	"XTP3-transactivated protein A"	615840				15740738	Standard	NM_024096		Approved	MGC5627, RS21C6, CDA03, XTP3TPA	uc002dyf.3	Q9H773	OTTHUMG00000132416	ENST00000319285.4:c.341T>A	chr16.hg19:g.30435726A>T	ENSP00000322524:p.Leu114Gln			Missense_Mutation	SNP	ENST00000319285.4	hg19	CCDS10680.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.277925	0.80692	.	.	ENSG00000179958	ENST00000319285	.	.	.	5.48	5.48	0.80851	NTP pyrophosphohydrolase MazG, putative catalytic core (1);	0.068721	0.56097	D	0.000021	D	0.87649	0.6230	H	0.97023	3.925	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91634	0.5321	9	0.87932	D	0	-6.6874	14.5404	0.67990	1.0:0.0:0.0:0.0	.	114	Q9H773	DCTP1_HUMAN	Q	114	.	ENSP00000322524:L114Q	L	-	2	0	DCTPP1	30343227	1.000000	0.71417	0.258000	0.24420	0.853000	0.48598	7.565000	0.82337	2.086000	0.62901	0.477000	0.44152	CTG		0.612	DCTPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255553.2	NM_024096		T	30435726	A	T	30435726	3	4	802	1	0	0	0	0	1	0	0	0	4314	188	7	5	175	5	DCTPP1	16	30435726	Missense_Mutation	SNP	A	TCGA-UZ-A9PN-01A-11D-A382-10	29708363	30435726	59919027	40	47816											
NFATC3	4775	hgsc.bcm.edu	37	16	68248266	68248266	+	Intron	SNP	A	A	G			TCGA-UZ-A9PN-01A-11D-A382-10	TCGA-UZ-A9PN-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	206e9cb3-201a-42f0-9d9e-4477dfe96585	9d87e73d-61d7-487c-9e1b-4dbc1285612b	g.chr16:68248266A>G	ENST00000346183.3	+	10	3130				NFATC3_ENST00000575270.1_Intron|NFATC3_ENST00000329524.4_Silent_p.S1047S|NFATC3_ENST00000349223.5_Intron|RP11-96D1.5_ENST00000569088.1_RNA|NFATC3_ENST00000535127.2_3'UTR	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3						cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		ACCAGCCATCAGGTTCAGCAG	0.423																																																0													208	169	182					16																	68248266		2198	4300	6498	SO:0001627	intron_variant	4775			L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"Nuclear factor of activated T-cells"	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.3107-11987A>G	chr16.hg19:g.68248266A>G			O75211|Q14516|Q99840|Q99841|Q99842	Silent	SNP	ENST00000346183.3	hg19	CCDS10860.1																																																																																				0.423	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268890.2	NM_004555		G	68248266	A	G	68248266	1	3	802	0	1	0	0	0	0	0	0	0	10366	175	7	3		3	NFATC3	16	68248266	Intron	SNP	A	TCGA-UZ-A9PN-01A-11D-A382-10	37812540	68248266	22106487	41	47817											
SLC25A11	8402	hgsc.bcm.edu	37	17	4842400	4842400	+	Missense_Mutation	SNP	A	A	T			TCGA-UZ-A9PN-01A-11D-A382-10	TCGA-UZ-A9PN-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	206e9cb3-201a-42f0-9d9e-4477dfe96585	9d87e73d-61d7-487c-9e1b-4dbc1285612b	g.chr17:4842400A>T	ENST00000225665.7	-	2	543	c.203T>A	c.(202-204)cTc>cAc	p.L68H	RNF167_ENST00000575111.1_5'Flank|RNF167_ENST00000572430.1_5'Flank|RNF167_ENST00000576229.1_5'Flank|RNF167_ENST00000262482.6_5'Flank|SLC25A11_ENST00000544061.2_Intron|RNF167_ENST00000571816.1_5'Flank	NM_001165417.1|NM_003562.4	NP_001158889.1|NP_003553.2	Q02978	M2OM_HUMAN	solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11	68					alpha-ketoglutarate transport (GO:0015742)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxoglutarate:malate antiporter activity (GO:0015367)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	10						GATACTGGTGAGGGCATGGAA	0.567																																					Esophageal Squamous(144;1178 2388 18010 48797)											0													135	123	127					17																	4842400		2203	4300	6503	SO:0001583	missense	8402			X66114	CCDS11059.1, CCDS54069.1	17p13.3	2013-05-22			ENSG00000108528	ENSG00000108528		"Solute carriers"	10981	protein-coding gene	gene with protein product		604165		SLC20A4		10072597, 1457818	Standard	NM_003562		Approved	OGC	uc002fzo.2	Q02978	OTTHUMG00000099395	ENST00000225665.7:c.203T>A	chr17.hg19:g.4842400A>T	ENSP00000225665:p.Leu68His		F5GY65|O75537|Q969P7	Missense_Mutation	SNP	ENST00000225665.7	hg19	CCDS11059.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.074333	0.76415	.	.	ENSG00000108528	ENST00000225665	D	0.81499	-1.5	5.97	4.9	0.64082	Mitochondrial carrier domain (2);	0.230475	0.36815	N	0.002398	D	0.88388	0.6423	M	0.87381	2.88	0.80722	D	1	D;D	0.59767	0.986;0.986	P;P	0.61275	0.886;0.886	D	0.89563	0.3808	10	0.72032	D	0.01	-6.7086	9.5961	0.39576	0.9188:0.0:0.0812:0.0	.	68;68	Q6IBH0;Q02978	.;M2OM_HUMAN	H	68	ENSP00000225665:L68H	ENSP00000225665:L68H	L	-	2	0	SLC25A11	4783145	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.148000	0.71788	2.288000	0.76882	0.533000	0.62120	CTC		0.567	SLC25A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216852.4	NM_003562		T	4842400	A	T	4842400	3	4	802	1	0	0	0	0	1	0	0	0	14479	304	11	5	769	5	SLC25A11	17	4842400	Missense_Mutation	SNP	A	TCGA-UZ-A9PN-01A-11D-A382-10		4842400	76352810	42	47818											
SLC46A1	113235	hgsc.bcm.edu	37	17	26729265	26729266	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-UZ-A9PN-01A-11D-A382-10	TCGA-UZ-A9PN-10A-01D-A385-10	TC	TC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	206e9cb3-201a-42f0-9d9e-4477dfe96585	9d87e73d-61d7-487c-9e1b-4dbc1285612b	g.chr17:26729265_26729266delTC	ENST00000440501.1	-	3	1250_1251	c.1155_1156delGA	c.(1153-1158)gagacafs	p.ET385fs	SLC46A1_ENST00000321666.5_Intron|CTD-2350C19.1_ENST00000583956.1_RNA|SLC46A1_ENST00000584729.1_5'UTR|CTD-2350C19.2_ENST00000580714.1_RNA	NM_080669.4	NP_542400.2	Q96NT5	PCFT_HUMAN	solute carrier family 46 (folate transporter), member 1	385					cellular iron ion homeostasis (GO:0006879)|folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|heme transporter activity (GO:0015232)|methotrexate transporter activity (GO:0015350)			lung(5)	5	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Folic Acid(DB00158)|Methotrexate(DB00563)|Sulfasalazine(DB00795)	CCCTGCTCTGTCTCTCTCACCA	0.54																																																0																																										SO:0001589	frameshift_variant	113235			AK054669	CCDS74019.1, CCDS74020.1	17q11.2	2014-09-17	2007-09-24			ENSG00000076351		"Solute carriers"	30521	protein-coding gene	gene with protein product	"heme carrier protein 1", "proton-coupled folate transporter"	611672	"solute carrier family 46, member 1"			16143108, 17129779	Standard	XM_005277786		Approved	HCP1, MGC9564, PCFT	uc002hbf.2	Q96NT5		ENST00000440501.1:c.1155_1156delGA	chr17.hg19:g.26729271_26729272delTC	ENSP00000395653:p.Glu385fs		Q1HE20|Q86T92|Q8TEG3|Q96FL0	Frame_Shift_Del	DEL	ENST00000440501.1	hg19																																																																																					0.54	SLC46A1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_080669		-	26729266	TC	-	26729265	7	5	802	1	0	1	0	1	0	0	0	0	14650	1667	58	0	236	0	SLC46A1	17	26729265	Frame_Shift_Del	DEL	TC	TCGA-UZ-A9PN-01A-11D-A382-10	21886865	26729265	54465945	43	47819											
TMUB2	79089	hgsc.bcm.edu	37	17	42267972	42267972	+	Missense_Mutation	SNP	T	T	A			TCGA-UZ-A9PN-01A-11D-A382-10	TCGA-UZ-A9PN-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	206e9cb3-201a-42f0-9d9e-4477dfe96585	9d87e73d-61d7-487c-9e1b-4dbc1285612b	g.chr17:42267972T>A	ENST00000587989.1	+	4	859	c.706T>A	c.(706-708)Tgt>Agt	p.C236S	TMUB2_ENST00000538716.2_Missense_Mutation_p.C236S|TMUB2_ENST00000319511.6_Missense_Mutation_p.C216S|TMUB2_ENST00000589184.1_Missense_Mutation_p.L50Q|TMUB2_ENST00000592825.1_3'UTR|TMUB2_ENST00000590235.1_3'UTR|TMUB2_ENST00000589785.1_Missense_Mutation_p.C216S|TMUB2_ENST00000357984.3_Missense_Mutation_p.C216S|TMUB2_ENST00000446571.3_Missense_Mutation_p.C179S|TMUB2_ENST00000587172.1_3'UTR			Q71RG4	TMUB2_HUMAN	transmembrane and ubiquitin-like domain containing 2	236	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.					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)		TACCGACAACTGTGTGATTCA	0.592																																																0													82	74	77					17																	42267972		2203	4300	6503	SO:0001583	missense	79089				CCDS11479.1, CCDS54134.1	17q21	2006-06-27				ENSG00000168591			28459	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_177441		Approved	MGC3123	uc002ifo.3	Q71RG4		ENST00000587989.1:c.706T>A	chr17.hg19:g.42267972T>A	ENSP00000466971:p.Cys236Ser		B3KU81|Q8NDI2|Q9BPZ5|Q9HAG3	Missense_Mutation	SNP	ENST00000587989.1	hg19	CCDS54134.1	.	.	.	.	.	.	.	.	.	.	T	13.67	2.305926	0.40795	.	.	ENSG00000168591	ENST00000446571;ENST00000357984;ENST00000538716;ENST00000319511	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.77	4.67	0.58626	Ubiquitin supergroup (1);Ubiquitin (2);	0.131169	0.64402	D	0.000001	T	0.18800	0.0451	N	0.01529	-0.815	0.44635	D	0.997618	B;B;B	0.34329	0.449;0.006;0.449	B;B;B	0.38921	0.191;0.008;0.285	T	0.11567	-1.0582	10	0.12430	T	0.62	-9.458	12.0139	0.53303	0.0:0.0:0.1449:0.8551	.	179;216;236	E7ESS3;Q71RG4-2;Q71RG4	.;.;TMUB2_HUMAN	S	179;216;236;216	ENSP00000413127:C179S;ENSP00000350672:C216S;ENSP00000444565:C236S;ENSP00000313214:C216S	ENSP00000313214:C216S	C	+	1	0	TMUB2	39623498	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.592000	0.46171	0.989000	0.38761	0.459000	0.35465	TGT		0.592	TMUB2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457711.1	NM_177441		A	42267972	T	A	42267972	3	1	802	1	0	0	0	0	1	0	0	0	16270	1580	55	5	716	5	TMUB2	17	42267972	Missense_Mutation	SNP	T	TCGA-UZ-A9PN-01A-11D-A382-10	15538707	42267972	38927238	44	47820											
TNRC6C	57690	hgsc.bcm.edu	37	17	76089791	76089791	+	Missense_Mutation	SNP	C	C	G			TCGA-UZ-A9PN-01A-11D-A382-10	TCGA-UZ-A9PN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	206e9cb3-201a-42f0-9d9e-4477dfe96585	9d87e73d-61d7-487c-9e1b-4dbc1285612b	g.chr17:76089791C>G	ENST00000588061.1	+	18	4980	c.4253C>G	c.(4252-4254)cCt>cGt	p.P1418R	TNRC6C_ENST00000335749.4_Missense_Mutation_p.P1415R|TNRC6C_ENST00000541771.1_Missense_Mutation_p.P1418R|TNRC6C_ENST00000544502.1_Missense_Mutation_p.P1415R|TNRC6C_ENST00000301624.4_Missense_Mutation_p.P1418R|TNRC6C_ENST00000588847.1_Missense_Mutation_p.P1415R			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1418	Silencing domain; interaction with CNOT1 and PAN3.|Sufficient for translational repression when tethered to a target mRNA.				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)			CCCACTGGGCCTACCATCAAC	0.542																																																0													91	96	95					17																	76089791		2166	4277	6443	SO:0001583	missense	57690			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.4253C>G	chr17.hg19:g.76089791C>G	ENSP00000468647:p.Pro1418Arg		G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Missense_Mutation	SNP	ENST00000588061.1	hg19	CCDS45798.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.135974	0.77662	.	.	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	T;T;T;T	0.18016	2.24;2.26;2.26;2.24	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.41766	0.1173	M	0.76574	2.34	0.80722	D	1	D;P	0.57257	0.979;0.695	P;B	0.58454	0.839;0.232	T	0.04915	-1.0918	10	0.51188	T	0.08	-15.04	20.6647	0.99678	0.0:1.0:0.0:0.0	.	1415;1418	G3XAB8;Q9HCJ0	.;TNR6C_HUMAN	R	1418;1415;1415;1418;1418;1415	ENSP00000336783:P1415R;ENSP00000301624:P1418R;ENSP00000440310:P1418R;ENSP00000442421:P1415R	ENSP00000301624:P1418R	P	+	2	0	TNRC6C	73601386	1.000000	0.71417	0.991000	0.47740	0.989000	0.77384	5.773000	0.68898	2.890000	0.99128	0.655000	0.94253	CCT		0.542	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996		G	76089791	C	G	76089791	3	3	802	1	0	0	0	0	1	0	0	0	16347	681	24	4	4307	4	TNRC6C	17	76089791	Missense_Mutation	SNP	C	TCGA-UZ-A9PN-01A-11D-A382-10	33821819	76089791	5105419	45	47821											
SETBP1	26040	hgsc.bcm.edu	37	18	42529882	42529882	+	Missense_Mutation	SNP	T	T	A			TCGA-UZ-A9PN-01A-11D-A382-10	TCGA-UZ-A9PN-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	206e9cb3-201a-42f0-9d9e-4477dfe96585	9d87e73d-61d7-487c-9e1b-4dbc1285612b	g.chr18:42529882T>A	ENST00000282030.5	+	4	873	c.577T>A	c.(577-579)Tat>Aat	p.Y193N		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	193						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)		AACTCTCCATTATGACACGGG	0.517									Schinzel-Giedion syndrome																																							0													66	60	62					18																	42529882		2203	4300	6503	SO:0001583	missense	26040	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.577T>A	chr18.hg19:g.42529882T>A	ENSP00000282030:p.Tyr193Asn		A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	hg19	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	T	18.73	3.686317	0.68157	.	.	ENSG00000152217	ENST00000282030	T	0.70749	-0.51	5.79	5.79	0.91817	.	0.080224	0.53938	D	0.000049	T	0.73329	0.3573	L	0.36672	1.1	0.39128	D	0.961792	D	0.53745	0.962	P	0.54924	0.764	T	0.75777	-0.3198	10	0.46703	T	0.11	.	16.1341	0.81471	0.0:0.0:0.0:1.0	.	193	Q9Y6X0	SETBP_HUMAN	N	193	ENSP00000282030:Y193N	ENSP00000282030:Y193N	Y	+	1	0	SETBP1	40783880	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.244000	0.58728	2.220000	0.72140	0.528000	0.53228	TAT		0.517	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		A	42529882	T	A	42529882	3	1	802	1	0	0	0	0	1	0	0	0	14135	1754	61	5	780	5	SETBP1	18	42529882	Missense_Mutation	SNP	T	TCGA-UZ-A9PN-01A-11D-A382-10		42529882	35547366	46	47822											
TMX3	54495	hgsc.bcm.edu	37	18	66365251	66365251	+	Missense_Mutation	SNP	A	A	G			TCGA-UZ-A9PN-01A-11D-A382-10	TCGA-UZ-A9PN-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	206e9cb3-201a-42f0-9d9e-4477dfe96585	9d87e73d-61d7-487c-9e1b-4dbc1285612b	g.chr18:66365251A>G	ENST00000299608.2	-	7	726	c.410T>C	c.(409-411)cTt>cCt	p.L137P	TMX3_ENST00000562706.1_Missense_Mutation_p.L137P|TMX3_ENST00000443099.2_Missense_Mutation_p.L110P	NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN	thioredoxin-related transmembrane protein 3	137					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						TTGACTTGGAAGTGGCCGAAT	0.308																																																0													86	78	81					18																	66365251		2203	4300	6503	SO:0001583	missense	54495			BX647846	CCDS32840.1	18q22	2011-10-19	2009-02-23	2009-02-23		ENSG00000166479		"Protein disulfide isomerases"	24718	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 13"		"thioredoxin domain containing 10"	TXNDC10		15623505	Standard	NM_019022		Approved	FLJ20793, KIAA1830, PDIA13	uc002lkf.3	Q96JJ7		ENST00000299608.2:c.410T>C	chr18.hg19:g.66365251A>G	ENSP00000299608:p.Leu137Pro		B3KV75|Q52LT7|Q8N5J0|Q9NWJ9	Missense_Mutation	SNP	ENST00000299608.2	hg19	CCDS32840.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.083448	0.76642	.	.	ENSG00000166479	ENST00000299608;ENST00000544714;ENST00000443099	T;T	0.14144	2.53;2.56	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.35451	0.0932	M	0.66939	2.045	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	0.08229	-1.0732	10	0.87932	D	0	.	13.5227	0.61576	1.0:0.0:0.0:0.0	.	110;137;137	B4DIE3;Q96JJ7-2;Q96JJ7	.;.;TMX3_HUMAN	P	137;137;110	ENSP00000299608:L137P;ENSP00000402605:L110P	ENSP00000299608:L137P	L	-	2	0	TMX3	64516231	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.992000	0.88273	2.141000	0.66446	0.533000	0.62120	CTT		0.308	TMX3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420155.1	NM_019022		G	66365251	A	G	66365251	3	3	802	1	0	0	0	0	1	0	0	0	16273	72	3	3	994	3	TMX3	18	66365251	Missense_Mutation	SNP	A	TCGA-UZ-A9PN-01A-11D-A382-10	23835369	66365251	11711997	47	47823											
C19orf28	126321	hgsc.bcm.edu	37	19	3544832	3544832	+	Silent	SNP	C	C	T			TCGA-UZ-A9PN-01A-11D-A382-10	TCGA-UZ-A9PN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	206e9cb3-201a-42f0-9d9e-4477dfe96585	9d87e73d-61d7-487c-9e1b-4dbc1285612b	g.chr19:3544832C>T	ENST00000355415.2	-	9	1564	c.1395G>A	c.(1393-1395)ctG>ctA	p.L465L	MFSD12_ENST00000398558.4_Silent_p.L465L|MFSD12_ENST00000389395.3_Silent_p.L465L|AC005786.7_ENST00000589360.1_RNA	NM_174983.3	NP_778148.2	Q6NUT3	MFS12_HUMAN	major facilitator superfamily domain containing 12	465					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						TCGGCCACAGCAGGAGGCTAC	0.662											OREG0025153	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													32	43	40					19																	3544832		2179	4266	6445	SO:0001819	synonymous_variant	126321			AF218008	CCDS42465.1, CCDS74256.1	19p13.3	2012-03-09	2011-11-24	2011-11-24	ENSG00000161091	ENSG00000161091			28299	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 28"	C19orf28		12477932	Standard	NM_174983		Approved	MGC20700, PP3501	uc002lxw.3	Q6NUT3		ENST00000355415.2:c.1395G>A	chr19.hg19:g.3544832C>T		612	A8MXP7|D6W615|E9PAJ8|Q8N459	Silent	SNP	ENST00000355415.2	hg19	CCDS42465.1																																																																																				0.662	MFSD12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452949.2	NM_174983		T	3544832	C	T	3544832	2	4	802	1	0	0	0	0	0	0	0	1	1919	697	25	2		2	C19orf28	19	3544832	Silent	SNP	C	TCGA-UZ-A9PN-01A-11D-A382-10		3544832	55584151	48	47824											
BRD4	23476	hgsc.bcm.edu	37	19	15350822	15350822	+	Missense_Mutation	SNP	C	C	T	rs200902225		TCGA-UZ-A9PN-01A-11D-A382-10	TCGA-UZ-A9PN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	206e9cb3-201a-42f0-9d9e-4477dfe96585	9d87e73d-61d7-487c-9e1b-4dbc1285612b	g.chr19:15350822C>T	ENST00000263377.2	-	15	3402	c.3181G>A	c.(3181-3183)Gaa>Aaa	p.E1061K		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	1061	C-terminal (CTD) region.				cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GAGGGGGCTTCGCGGAGGTGA	0.557			T	C15orf55	lethal midline carcinoma of young people																																		Dom	yes		19	19p13.1	23476	bromodomain containing 4		E	0													34	37	36					19																	15350822		2203	4300	6503	SO:0001583	missense	23476			Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"chromosome-associated protein"	608749	"bromodomain-containing 4"			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.3181G>A	chr19.hg19:g.15350822C>T	ENSP00000263377:p.Glu1061Lys		O60433|Q4G0X8|Q86YS8|Q96PD3	Missense_Mutation	SNP	ENST00000263377.2	hg19	CCDS12328.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.938039	0.52972	.	.	ENSG00000141867	ENST00000263377	T	0.34275	1.37	4.41	4.41	0.53225	.	0.000000	0.50627	D	0.000109	T	0.22820	0.0551	L	0.29908	0.895	0.80722	D	1	P	0.49253	0.921	B	0.31390	0.129	T	0.08391	-1.0724	10	0.38643	T	0.18	-8.7097	15.7874	0.78319	0.0:1.0:0.0:0.0	.	1061	O60885	BRD4_HUMAN	K	1061	ENSP00000263377:E1061K	ENSP00000263377:E1061K	E	-	1	0	BRD4	15211822	1.000000	0.71417	0.997000	0.53966	0.936000	0.57629	7.175000	0.77632	1.979000	0.57680	0.561000	0.74099	GAA		0.557	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	NM_058243		T	15350822	C	T	15350822	3	4	802	1	0	0	0	0	1	0	0	0	1506	893	31	1	931	1	BRD4	19	15350822	Missense_Mutation	SNP	C	TCGA-UZ-A9PN-01A-11D-A382-10	11805990	15350822	43778161	49	47825											
AKT2	208	hgsc.bcm.edu	37	19	40743897	40743897	+	Missense_Mutation	SNP	G	G	T	rs150206349		TCGA-UZ-A9PN-01A-11D-A382-10	TCGA-UZ-A9PN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	206e9cb3-201a-42f0-9d9e-4477dfe96585	9d87e73d-61d7-487c-9e1b-4dbc1285612b	g.chr19:40743897G>T	ENST00000392038.2	-	9	1108	c.810C>A	c.(808-810)gaC>gaA	p.D270E	AKT2_ENST00000311278.6_Missense_Mutation_p.D270E|AKT2_ENST00000579047.1_Missense_Mutation_p.D208E|AKT2_ENST00000424901.1_Missense_Mutation_p.D270E	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	270	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Ral GTPase activity (GO:0032859)|apoptotic process (GO:0006915)|carbohydrate transport (GO:0008643)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|fat cell differentiation (GO:0045444)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transmembrane transport (GO:0065002)|mammary gland epithelial cell differentiation (GO:0060644)|membrane organization (GO:0061024)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of cell motility (GO:2000147)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)|protein localization to plasma membrane (GO:0072659)|regulation of cell cycle arrest (GO:0071156)|regulation of cell migration (GO:0030334)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			GGTATACCACGTCCCGCGAGT	0.592			A		"ovarian, pancreatic "																																		Dom	yes		19	19q13.1-q13.2	208	v-akt murine thymoma viral oncogene homolog 2		E	0													121	84	96					19																	40743897		2203	4300	6503	SO:0001583	missense	208			M77198	CCDS12552.1	19q13.1-q13.2	2013-01-10			ENSG00000105221	ENSG00000105221	2.7.11.1	"Pleckstrin homology (PH) domain containing"	392	protein-coding gene	gene with protein product		164731				1409633	Standard	NM_001626		Approved		uc002onf.3	P31751	OTTHUMG00000137375	ENST00000392038.2:c.810C>A	chr19.hg19:g.40743897G>T	ENSP00000375892:p.Asp270Glu		B2RBD8|Q05BV0|Q0VAN0|Q0VAN1|Q68GC0	Missense_Mutation	SNP	ENST00000392038.2	hg19	CCDS12552.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.545765	0.45280	.	.	ENSG00000105221	ENST00000392038;ENST00000391844;ENST00000424901;ENST00000311278;ENST00000391845	T;T;T	0.24908	1.83;1.83;1.83	5.04	-1.24	0.09435	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.158114	0.56097	D	0.000023	T	0.17238	0.0414	L	0.37507	1.11	0.46113	D	0.99887	B;B;B	0.13145	0.001;0.007;0.0	B;B;B	0.13407	0.002;0.009;0.003	T	0.06826	-1.0805	10	0.44086	T	0.13	.	9.7769	0.40626	0.7366:0.0:0.2634:0.0	.	208;270;270	B4DG79;Q0VAN0;P31751	.;.;AKT2_HUMAN	E	270;171;270;270;90	ENSP00000375892:D270E;ENSP00000399532:D270E;ENSP00000309428:D270E	ENSP00000309428:D270E	D	-	3	2	AKT2	45435737	0.149000	0.22717	0.992000	0.48379	0.920000	0.55202	-0.327000	0.07955	-0.005000	0.14395	-0.355000	0.07637	GAC		0.592	AKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268029.1	NM_001626		T	40743897	G	T	40743897	3	4	802	1	0	0	0	0	1	0	0	0	480	1136	40	4	659	4	AKT2	19	40743897	Missense_Mutation	SNP	G	TCGA-UZ-A9PN-01A-11D-A382-10	25393075	40743897	18385086	50	47826											
PRR12	57479	hgsc.bcm.edu	37	19	50104787	50104787	+	Missense_Mutation	SNP	C	C	G			TCGA-UZ-A9PN-01A-11D-A382-10	TCGA-UZ-A9PN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	206e9cb3-201a-42f0-9d9e-4477dfe96585	9d87e73d-61d7-487c-9e1b-4dbc1285612b	g.chr19:50104787C>G	ENST00000418929.2	+	6	4397	c.4385C>G	c.(4384-4386)cCt>cGt	p.P1462R		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)		cccactccacctcctgccccg	0.682																																																0													3	6	5					19																	50104787		1546	3424	4970	SO:0001583	missense	57479			AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"KIAA1205"	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.4385C>G	chr19.hg19:g.50104787C>G	ENSP00000394510:p.Pro1462Arg		E9PB06|Q8N4J6	Missense_Mutation	SNP	ENST00000418929.2	hg19	CCDS46143.1	.	.	.	.	.	.	.	.	.	.	C	6.153	0.396514	0.11638	.	.	ENSG00000126464	ENST00000418929;ENST00000246798;ENST00000314734	.	.	.	2.41	1.34	0.21922	.	.	.	.	.	T	0.36193	0.0958	.	.	.	0.36279	D	0.855686	P	0.48016	0.904	B	0.42625	0.393	T	0.36915	-0.9728	7	0.38643	T	0.18	-0.189	6.3508	0.21375	0.2937:0.7063:0.0:0.0	.	1462	Q9ULL5-3	.	R	1462;642;642	.	ENSP00000246798:P642R	P	+	2	0	PRR12	54796599	0.002000	0.14202	0.718000	0.30602	0.862000	0.49288	1.602000	0.36783	0.546000	0.28920	0.313000	0.20887	CCT		0.682	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		G	50104787	C	G	50104787	3	3	802	1	0	0	0	0	1	0	0	0	12589	681	24	4	4407	4	PRR12	19	50104787	Missense_Mutation	SNP	C	TCGA-UZ-A9PN-01A-11D-A382-10	9360890	50104787	9024196	51	47827											
TNNT1	7138	hgsc.bcm.edu	37	19	55656921	55656921	+	Missense_Mutation	SNP	G	G	T			TCGA-UZ-A9PN-01A-11D-A382-10	TCGA-UZ-A9PN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	206e9cb3-201a-42f0-9d9e-4477dfe96585	9d87e73d-61d7-487c-9e1b-4dbc1285612b	g.chr19:55656921G>T	ENST00000588981.1	-	6	323	c.119C>A	c.(118-120)cCc>cAc	p.P40H	TNNT1_ENST00000587465.2_5'UTR|TNNT1_ENST00000592920.1_5'UTR|TNNT1_ENST00000587758.1_Missense_Mutation_p.P29H|TNNT1_ENST00000536926.1_Intron|TNNT1_ENST00000291901.8_Missense_Mutation_p.P40H|TNNT1_ENST00000356783.5_Missense_Mutation_p.P29H|TNNT1_ENST00000585321.2_5'UTR|TNNT1_ENST00000588426.1_Intron	NM_003283.4	NP_003274.3	P13805	TNNT1_HUMAN	troponin T type 1 (skeletal, slow)	40					muscle filament sliding (GO:0030049)|negative regulation of muscle contraction (GO:0045932)|skeletal muscle contraction (GO:0003009)|slow-twitch skeletal muscle fiber contraction (GO:0031444)	cytosol (GO:0005829)|troponin complex (GO:0005861)	tropomyosin binding (GO:0005523)			endometrium(2)|kidney(3)|lung(4)|ovary(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		CCTTGGTTTGGGGCGTTCCTC	0.542																																																0													166	173	171					19																	55656921		2203	4300	6503	SO:0001583	missense	7138				CCDS12917.1, CCDS46185.1, CCDS59421.1	19q13.4	2014-09-17	2005-09-12			ENSG00000105048			11948	protein-coding gene	gene with protein product	"slow skeletal muscle troponin T", "troponin T1, skeletal, slow", "nemaline myopathy type 5"	191041	"troponin T1, skeletal, slow"			1505979	Standard	XM_006723343		Approved	ANM, STNT, TNT, TNTS, FLJ98147, MGC104241, NEM5	uc002qjb.4	P13805		ENST00000588981.1:c.119C>A	chr19.hg19:g.55656921G>T	ENSP00000467176:p.Pro40His		O95472|Q16061|Q5U0E1	Missense_Mutation	SNP	ENST00000588981.1	hg19	CCDS12917.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.722866	0.48728	.	.	ENSG00000105048	ENST00000291901;ENST00000356783;ENST00000429737	D;D	0.99880	-7.45;-7.45	3.72	3.72	0.42706	.	0.072594	0.56097	D	0.000035	D	0.99822	0.9921	M	0.66439	2.03	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	D;D;D;D	0.83275	0.99;0.996;0.996;0.99	D	0.96025	0.9012	10	0.72032	D	0.01	-17.4076	13.8205	0.63318	0.0:0.0:1.0:0.0	.	40;29;40;40	Q56R94;P13805-2;P13805-3;P13805	.;.;.;TNNT1_HUMAN	H	40;29;55	ENSP00000291901:P40H;ENSP00000349233:P29H	ENSP00000291901:P40H	P	-	2	0	TNNT1	60348733	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	6.019000	0.70818	2.006000	0.58801	0.590000	0.80494	CCC		0.542	TNNT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451825.2	NM_003283		T	55656921	G	T	55656921	3	4	802	1	0	0	0	0	1	0	0	0	16335	1232	43	4	753	4	TNNT1	19	55656921	Missense_Mutation	SNP	G	TCGA-UZ-A9PN-01A-11D-A382-10	5552134	55656921	3472062	52	47828											
RPL28	6158	hgsc.bcm.edu	37	19	55897936	55897936	+	Splice_Site	SNP	A	A	G			TCGA-UZ-A9PN-01A-11D-A382-10	TCGA-UZ-A9PN-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	206e9cb3-201a-42f0-9d9e-4477dfe96585	9d87e73d-61d7-487c-9e1b-4dbc1285612b	g.chr19:55897936A>G	ENST00000344063.2	+	3	710		c.e3-1		RPL28_ENST00000558815.1_Splice_Site|RPL28_ENST00000559463.1_Splice_Site|RPL28_ENST00000560055.1_Splice_Site|RPL28_ENST00000558752.1_Splice_Site|RPL28_ENST00000558131.1_Splice_Site|RPL28_ENST00000458349.2_Splice_Site|TMEM238_ENST00000444469.3_5'Flank|RPL28_ENST00000428193.2_Splice_Site|RPL28_ENST00000431533.2_Splice_Site|RPL28_ENST00000560583.1_Splice_Site			P46779	RL28_HUMAN	ribosomal protein L28						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6	Breast(117;0.191)	Renal(1328;0.245)	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)		CCTCCTTCCCAGGAGCCCAAT	0.612																																																0													63	65	64					19																	55897936		2203	4300	6503	SO:0001630	splice_region_variant	6158			U14969	CCDS12924.1, CCDS46189.1, CCDS46190.1, CCDS46191.1, CCDS46192.1	19q13.4	2011-04-06				ENSG00000108107		"L ribosomal proteins"	10330	protein-coding gene	gene with protein product	"60S ribosomal protein L28"	603638				7772601, 9582194	Standard	NM_001136134		Approved	FLJ43307, L28	uc010yga.2	P46779		ENST00000344063.2:c.82-1A>G	chr19.hg19:g.55897936A>G			B2R4A6|B4DEP9|C9JB50|E9PB24|G5E9L2|Q6IAY0|Q96FX1|Q9BWQ0	Splice_Site	SNP	ENST00000344063.2	hg19	CCDS12924.1	.	.	.	.	.	.	.	.	.	.	A	18.04	3.535153	0.64972	.	.	ENSG00000108107	ENST00000344063;ENST00000426763;ENST00000428193;ENST00000431533;ENST00000458349	.	.	.	3.37	3.37	0.38596	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.4015	0.44233	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RPL28	60589748	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	5.754000	0.68743	1.791000	0.52520	0.533000	0.62120	.		0.612	RPL28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416277.2	NM_000991	Intron	G	55897936	A	G	55897936	5	3	802	1	0	0	0	0	0	0	1	0	13583	202	7	3	86	3	RPL28	19	55897936	Splice_Site	SNP	A	TCGA-UZ-A9PN-01A-11D-A382-10	241015	55897936	3231047	53	47829											
OGFR	11054	hgsc.bcm.edu	37	20	61443936	61443936	+	Silent	SNP	C	C	A			TCGA-UZ-A9PN-01A-11D-A382-10	TCGA-UZ-A9PN-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	206e9cb3-201a-42f0-9d9e-4477dfe96585	9d87e73d-61d7-487c-9e1b-4dbc1285612b	g.chr20:61443936C>A	ENST00000290291.6	+	7	994	c.969C>A	c.(967-969)gcC>gcA	p.A323A	OGFR_ENST00000370461.1_Silent_p.A271A	NM_007346.2	NP_031372.2	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	323					opioid receptor signaling pathway (GO:0038003)|regulation of cell growth (GO:0001558)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	opioid receptor activity (GO:0004985)			endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					ACCACGAGGCCAGCACCCAGG	0.701																																																0													5	6	6					20																	61443936		2122	4164	6286	SO:0001819	synonymous_variant	11054			AF109134	CCDS13504.1	20q13.3	2008-05-02			ENSG00000060491	ENSG00000060491			15768	protein-coding gene	gene with protein product		606459				10677613	Standard	NM_007346		Approved	7-60	uc002ydj.3	Q9NZT2	OTTHUMG00000032937	ENST00000290291.6:c.969C>A	chr20.hg19:g.61443936C>A			O96029|Q4VXW5|Q96CM2|Q9BQW1|Q9H4H0|Q9H7J5|Q9NZT3|Q9NZT4	Silent	SNP	ENST00000290291.6	hg19	CCDS13504.1																																																																																				0.701	OGFR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080067.1			A	61443936	C	A	61443936	2	1	802	1	0	0	0	0	0	0	0	1	10845	581	21	4		4	OGFR	20	61443936	Silent	SNP	C	TCGA-UZ-A9PN-01A-11D-A382-10		61443936	1581584	54	47830											
KRTAP10-8	386681	hgsc.bcm.edu	37	21	46032797	46032797	+	Nonstop_Mutation	SNP	A	A	T			TCGA-UZ-A9PN-01A-11D-A382-10	TCGA-UZ-A9PN-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	206e9cb3-201a-42f0-9d9e-4477dfe96585	9d87e73d-61d7-487c-9e1b-4dbc1285612b	g.chr21:46032797A>T	ENST00000334662.2	+	1	802	c.780A>T	c.(778-780)tgA>tgT	p.*260C	TSPEAR_ENST00000323084.4_Intron	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN	keratin associated protein 10-8	0						keratin filament (GO:0045095)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						tggcctgcTGAGGCCTCTGCT	0.711																																																0													29	33	32					21																	46032797		2195	4284	6479	SO:0001578	stop_lost	386681			AB076355	CCDS13713.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000187766	ENSG00000187766		"Keratin associated proteins"	20525	protein-coding gene	gene with protein product			"keratin associated protein 18-8"	KRTAP18-8			Standard	NM_198695		Approved	KRTAP18.8, KAP10.8	uc002zfo.1	P60410	OTTHUMG00000057632	ENST00000334662.2:c.780A>T	chr21.hg19:g.46032797A>T	ENSP00000335565:p.*260Cysext*11		A0JNW4	Missense_Mutation	SNP	ENST00000334662.2	hg19	CCDS13713.1	.	.	.	.	.	.	.	.	.	.	a	0.016	-1.512184	0.00984	.	.	ENSG00000187766	ENST00000334662	.	.	.	3.5	-1.98	0.07480	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.4751	0.11731	0.1872:0.5795:0.0:0.2333	.	.	.	.	C	260	.	.	X	+	3	0	KRTAP10-8	44857225	0.454000	0.25728	0.018000	0.16275	0.002000	0.02628	-0.652000	0.05366	-0.465000	0.06953	-0.644000	0.03951	TGA		0.711	KRTAP10-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128035.1	NM_198695		T	46032797	A	T	46032797	4	4	802	1	0	0	0	0	0	0	0	0	8517	317	11	5	782	5	KRTAP10-8	21	46032797	Nonstop_Mutation	SNP	A	TCGA-UZ-A9PN-01A-11D-A382-10		46032797	2097098	55	47831											
NLGN4X	57502	hgsc.bcm.edu	37	X	5811459	5811459	+	Missense_Mutation	SNP	T	T	G			TCGA-UZ-A9PN-01A-11D-A382-10	TCGA-UZ-A9PN-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	206e9cb3-201a-42f0-9d9e-4477dfe96585	9d87e73d-61d7-487c-9e1b-4dbc1285612b	g.chrX:5811459T>G	ENST00000381095.3	-	6	2477	c.1850A>C	c.(1849-1851)gAc>gCc	p.D617A	NLGN4X_ENST00000275857.6_Missense_Mutation_p.D617A|NLGN4X_ENST00000538097.1_Missense_Mutation_p.D617A|NLGN4X_ENST00000381093.2_Missense_Mutation_p.D637A|NLGN4X_ENST00000381092.1_Missense_Mutation_p.D617A	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	617					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						TGATGTCATGTCTGGTGGAGG	0.493																																																0													125	106	112					X																	5811459		2203	4297	6500	SO:0001583	missense	57502			AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"neuroligin 4"	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.1850A>C	chrX.hg19:g.5811459T>G	ENSP00000370485:p.Asp617Ala		Q6UX10|Q9ULG0	Missense_Mutation	SNP	ENST00000381095.3	hg19	CCDS14126.1	.	.	.	.	.	.	.	.	.	.	T	5.476	0.272923	0.10349	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16	4.0	4.0	0.46444	.	0.444374	0.16752	N	0.200994	T	0.54415	0.1857	L	0.46157	1.445	0.58432	D	0.999996	B;B;B	0.16396	0.017;0.017;0.013	B;B;B	0.15484	0.009;0.013;0.012	T	0.51911	-0.8645	10	0.42905	T	0.14	.	11.5189	0.50539	0.0:0.0:0.0:1.0	.	674;617;637	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	A	617;637;617;617;617	ENSP00000370485:D617A;ENSP00000370483:D637A;ENSP00000275857:D617A;ENSP00000370482:D617A;ENSP00000439203:D617A	ENSP00000275857:D617A	D	-	2	0	NLGN4X	5821459	1.000000	0.71417	0.757000	0.31301	0.019000	0.09904	6.912000	0.75753	1.290000	0.44636	0.417000	0.27973	GAC		0.493	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742		G	5811459	T	G	5811459	3	3	802	1	0	0	0	0	1	0	0	0	10466	1667	58	5	604	5	NLGN4X	23	5811459	Missense_Mutation	SNP	T	TCGA-UZ-A9PN-01A-11D-A382-10		5811459	149459101	56	47832											
PPP1R3F	89801	hgsc.bcm.edu	37	X	49143255	49143255	+	Silent	SNP	G	G	A			TCGA-UZ-A9PN-01A-11D-A382-10	TCGA-UZ-A9PN-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	206e9cb3-201a-42f0-9d9e-4477dfe96585	9d87e73d-61d7-487c-9e1b-4dbc1285612b	g.chrX:49143255G>A	ENST00000055335.6	+	4	2119	c.2103G>A	c.(2101-2103)ggG>ggA	p.G701G	PPP1R3F_ENST00000438316.1_Silent_p.G372G|PPP1R3F_ENST00000466508.1_Silent_p.G355G|PPP1R3F_ENST00000376188.1_Silent_p.G355G|PPP1R3F_ENST00000495799.1_Silent_p.G355G	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	701					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)					TTCTGCAGGGGCAAAATCCCA	0.597																																																0													48	30	36					X																	49143255		2202	4300	6502	SO:0001819	synonymous_variant	89801				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.2103G>A	chrX.hg19:g.49143255G>A			A2VDJ8|B3KPW2|E9PCM3	Silent	SNP	ENST00000055335.6	hg19	CCDS35254.1																																																																																				0.597	PPP1R3F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060819.2	NM_033215		A	49143255	G	A	49143255	2	1	802	1	0	0	0	0	0	0	0	1	12380	1190	42	2		2	PPP1R3F	23	49143255	Silent	SNP	G	TCGA-UZ-A9PN-01A-11D-A382-10	43331796	49143255	106127305	57	47833											
COL16A1	1307	hgsc.bcm.edu	37	1	32149737	32149737	+	Frame_Shift_Del	DEL	G	G	-	rs373053106		TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr1:32149737delG	ENST00000373672.3	-	32	2772	c.2256delC	c.(2254-2256)cccfs	p.P752fs	COL16A1_ENST00000373668.3_Frame_Shift_Del_p.P752fs|COL16A1_ENST00000271069.6_Frame_Shift_Del_p.P751fs	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	752	Triple-helical region 5 (COL5) with 3 imperfections.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CCACGCCTTCGGGGCCCTGCT	0.682																																					Colon(143;498 1786 21362 25193 36625)											0													16	21	20					1																	32149737		1978	4128	6106	SO:0001589	frameshift_variant	1307			M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"Collagens"	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.2256delC	chr1.hg19:g.32149737delG	ENSP00000362776:p.Pro752fs		Q16593|Q59F89|Q71RG9	Frame_Shift_Del	DEL	ENST00000373672.3	hg19	CCDS41297.1																																																																																				0.682	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856		-	32149737	G	-	32149737	7	5	803	1	0	1	0	1	0	0	0	0	3675	1103	39	0	2718	0	COL16A1	1	32149737	Frame_Shift_Del	DEL	G	TCGA-UZ-A9PO-01A-11D-A382-10		32149737	217100884	1	47834											
PABPC4	8761	hgsc.bcm.edu	37	1	40031014	40031014	+	Missense_Mutation	SNP	A	A	C			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr1:40031014A>C	ENST00000372857.3	-	8	1801	c.1009T>G	c.(1009-1011)Ttc>Gtc	p.F337V	RP11-69E11.8_ENST00000415255.1_RNA|PABPC4_ENST00000372862.3_Missense_Mutation_p.F337V|PABPC4_ENST00000372858.3_Missense_Mutation_p.F337V|PABPC4_ENST00000372856.3_Missense_Mutation_p.F337V|SNORA55_ENST00000364587.1_RNA	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	337	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				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)			AAGCAGACGAAGCCAAACCCT	0.502																																																0													74	71	72					1																	40031014		2203	4300	6503	SO:0001583	missense	8761			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.1009T>G	chr1.hg19:g.40031014A>C	ENSP00000361948:p.Phe337Val		B1ANQ8|Q4VC03|Q6P0N3	Missense_Mutation	SNP	ENST00000372857.3	hg19	CCDS438.1	.	.	.	.	.	.	.	.	.	.	A	33	5.223893	0.95139	.	.	ENSG00000090621	ENST00000372862;ENST00000372858;ENST00000372857;ENST00000372856	T;T;T;T	0.30981	1.51;1.51;1.51;1.51	6.16	6.16	0.99307	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.68915	0.3053	H	0.95114	3.625	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.984;0.999	T	0.79024	-0.1972	10	0.87932	D	0	.	16.8061	0.85666	1.0:0.0:0.0:0.0	.	337;337;337	Q13310;Q13310-2;Q4VC03	PABP4_HUMAN;.;.	V	337	ENSP00000361953:F337V;ENSP00000361949:F337V;ENSP00000361948:F337V;ENSP00000361947:F337V	ENSP00000361947:F337V	F	-	1	0	PABPC4	39803601	1.000000	0.71417	0.994000	0.49952	0.990000	0.78478	9.307000	0.96226	2.367000	0.80283	0.528000	0.53228	TTC		0.502	PABPC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025220.1	NM_001135653		C	40031014	A	C	40031014	3	2	803	1	0	0	0	0	1	0	0	0	11368	72	3	5	1005	5	PABPC4	1	40031014	Missense_Mutation	SNP	A	TCGA-UZ-A9PO-01A-11D-A382-10	7881277	40031014	209219607	2	47835											
SLC6A9	6536	hgsc.bcm.edu	37	1	44475672	44475672	+	Missense_Mutation	SNP	C	C	T			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr1:44475672C>T	ENST00000360584.2	-	4	694	c.503G>A	c.(502-504)tGc>tAc	p.C168Y	SLC6A9_ENST00000475075.2_Intron|SLC6A9_ENST00000492434.2_5'UTR|SLC6A9_ENST00000372306.3_Missense_Mutation_p.C95Y|SLC6A9_ENST00000537678.1_Missense_Mutation_p.C30Y|SLC6A9_ENST00000372310.3_Missense_Mutation_p.C95Y|SLC6A9_ENST00000357730.2_Missense_Mutation_p.C114Y|SLC6A9_ENST00000372307.3_Missense_Mutation_p.C30Y	NM_201649.3	NP_964012.2	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	168					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	GACCCCCAGGCACCCCTGGCT	0.602																																																0													67	72	70					1																	44475672		2203	4300	6503	SO:0001583	missense	6536			S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			ENSG00000196517	ENSG00000196517		"Solute carriers"	11056	protein-coding gene	gene with protein product		601019				8183239, 7587377	Standard	NM_006934		Approved	GLYT1	uc001cll.4	P48067	OTTHUMG00000008294	ENST00000360584.2:c.503G>A	chr1.hg19:g.44475672C>T	ENSP00000353791:p.Cys168Tyr		A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Missense_Mutation	SNP	ENST00000360584.2	hg19	CCDS41317.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.446464	0.84101	.	.	ENSG00000196517	ENST00000372307;ENST00000372306;ENST00000372310;ENST00000360584;ENST00000357730;ENST00000537678;ENST00000528803	T;T;T;T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86;-0.86;-0.86;-0.86	5.4	5.4	0.78164	.	0.046641	0.85682	D	0.000000	D	0.88455	0.6441	M	0.87097	2.86	0.80722	D	1	D;D;D;D;D;D	0.89917	0.998;0.997;0.995;0.996;0.996;1.0	D;D;D;D;D;D	0.91635	0.994;0.95;0.95;0.946;0.946;0.999	D	0.89341	0.3654	10	0.62326	D	0.03	.	18.9633	0.92685	0.0:1.0:0.0:0.0	.	99;95;30;95;114;168	B7Z3W8;B7Z8W5;B7Z3A9;P48067-2;P48067-3;P48067	.;.;.;.;.;SC6A9_HUMAN	Y	30;95;95;168;114;30;114	ENSP00000361381:C30Y;ENSP00000361380:C95Y;ENSP00000361384:C95Y;ENSP00000353791:C168Y;ENSP00000350362:C114Y;ENSP00000442523:C30Y;ENSP00000435652:C114Y	ENSP00000350362:C114Y	C	-	2	0	SLC6A9	44248259	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.018000	0.40991	2.813000	0.96785	0.561000	0.74099	TGC		0.602	SLC6A9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000022825.2	NM_201649		T	44475672	C	T	44475672	3	4	803	1	0	0	0	0	1	0	0	0	14697	710	25	2	1661	2	SLC6A9	1	44475672	Missense_Mutation	SNP	C	TCGA-UZ-A9PO-01A-11D-A382-10	4444658	44475672	204774949	3	47836											
CYP4A11	1579	hgsc.bcm.edu	37	1	47403742	47403742	+	Missense_Mutation	SNP	T	T	C			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr1:47403742T>C	ENST00000310638.4	-	2	294	c.263A>G	c.(262-264)cAt>cGt	p.H88R	CYP4A11_ENST00000371905.1_Missense_Mutation_p.H88R|CYP4A11_ENST00000457840.2_5'UTR|CYP4A11_ENST00000462347.1_Missense_Mutation_p.H88R|CYP4A11_ENST00000371904.4_Missense_Mutation_p.H88R	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	88					arachidonic acid metabolic process (GO:0019369)|cellular lipid metabolic process (GO:0044255)|epoxygenase P450 pathway (GO:0019373)|fatty acid metabolic process (GO:0006631)|leukotriene B4 catabolic process (GO:0036101)|leukotriene metabolic process (GO:0006691)|long-chain fatty acid metabolic process (GO:0001676)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of icosanoid secretion (GO:0032305)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					Cisplatin(DB00515)|Clofibrate(DB00636)|Dexamethasone(DB01234)|Estrone(DB00655)|Ethanol(DB00898)|Lansoprazole(DB00448)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Rifampicin(DB01045)|Tretinoin(DB00755)	CCATAGCCAATGAGGACAGGC	0.507																																																0													226	178	195					1																	47403742		2203	4300	6503	SO:0001583	missense	1579			L04751	CCDS543.1	1p33	2008-02-05	2003-01-14		ENSG00000187048	ENSG00000187048		"Cytochrome P450s"	2642	protein-coding gene	gene with protein product		601310	"cytochrome P450, subfamily IVA, polypeptide 11"	CYP4A2		7679927	Standard	NM_000778		Approved	CYP4AII	uc001cqp.4	Q02928	OTTHUMG00000008020	ENST00000310638.4:c.263A>G	chr1.hg19:g.47403742T>C	ENSP00000311095:p.His88Arg		Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5	Missense_Mutation	SNP	ENST00000310638.4	hg19	CCDS543.1	.	.	.	.	.	.	.	.	.	.	-	4.775	0.144108	0.09134	.	.	ENSG00000187048	ENST00000310638;ENST00000371904;ENST00000371905	T;T;T	0.67865	-0.29;-0.29;-0.29	5.51	-6.14	0.02111	.	0.665630	0.13942	N	0.352126	T	0.23649	0.0572	N	0.00648	-1.295	0.09310	N	0.999998	B	0.02656	0.0	B	0.04013	0.001	T	0.38735	-0.9647	10	0.17369	T	0.5	.	6.3399	0.21316	0.5397:0.1961:0.0:0.2642	.	88	Q02928	CP4AB_HUMAN	R	88	ENSP00000311095:H88R;ENSP00000360971:H88R;ENSP00000360972:H88R	ENSP00000311095:H88R	H	-	2	0	CYP4A11	47176329	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-1.790000	0.01759	-1.037000	0.03283	-0.451000	0.05528	CAT		0.507	CYP4A11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022022.1	NM_000778		C	47403742	T	C	47403742	3	2	803	1	0	0	0	0	1	0	0	0	4185	1464	51	3	1340	3	CYP4A11	1	47403742	Missense_Mutation	SNP	T	TCGA-UZ-A9PO-01A-11D-A382-10	2928070	47403742	201846879	4	47837											
MYSM1	114803	hgsc.bcm.edu	37	1	59127169	59127169	+	Missense_Mutation	SNP	A	A	G			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr1:59127169A>G	ENST00000472487.1	-	18	2218	c.2179T>C	c.(2179-2181)Ttt>Ctt	p.F727L	MYSM1_ENST00000493821.1_5'UTR	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	727					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)					TGTACTTCAAATTTGTAAGGT	0.343																																																0													134	120	124					1																	59127169		1832	4080	5912	SO:0001583	missense	114803			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.2179T>C	chr1.hg19:g.59127169A>G	ENSP00000418734:p.Phe727Leu		A8KA54|B3KX65|Q68DD3|Q6AI53|Q7Z3G8|Q96PX3	Missense_Mutation	SNP	ENST00000472487.1	hg19	CCDS41343.1	.	.	.	.	.	.	.	.	.	.	A	18.42	3.619113	0.66787	.	.	ENSG00000162601	ENST00000472487	T	0.24350	1.86	5.13	5.13	0.70059	.	0.104089	0.64402	D	0.000002	T	0.43700	0.1259	M	0.63843	1.955	0.44694	D	0.997685	D	0.69078	0.997	D	0.75020	0.985	T	0.23655	-1.0182	10	0.15952	T	0.53	-16.8799	12.8107	0.57637	1.0:0.0:0.0:0.0	.	727	Q5VVJ2	MYSM1_HUMAN	L	727	ENSP00000418734:F727L	ENSP00000418734:F727L	F	-	1	0	MYSM1	58899757	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.045000	0.64220	2.158000	0.67659	0.377000	0.23210	TTT		0.343	MYSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026343.2	XM_055481		G	59127169	A	G	59127169	3	3	803	1	0	0	0	0	1	0	0	0	10103	101	4	3	319	3	MYSM1	1	59127169	Missense_Mutation	SNP	A	TCGA-UZ-A9PO-01A-11D-A382-10	11723427	59127169	190123452	5	47838											
CCDC18	343099	hgsc.bcm.edu	37	1	93671122	93671122	+	Missense_Mutation	SNP	A	A	G			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr1:93671122A>G	ENST00000343253.7	+	8	1353	c.851A>G	c.(850-852)aAt>aGt	p.N284S	CCDC18_ENST00000401026.3_Missense_Mutation_p.N284S|CCDC18_ENST00000338949.4_Missense_Mutation_p.N83S|CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000557479.1_Missense_Mutation_p.N402S			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	284										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		GAAAAAGAAAATAAAAGGCTA	0.289																																																0													61	61	61					1																	93671122		1800	4053	5853	SO:0001583	missense	343099					1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.851A>G	chr1.hg19:g.93671122A>G	ENSP00000343377:p.Asn284Ser		Q6ZU17	Missense_Mutation	SNP	ENST00000343253.7	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.67|15.67	2.902271|2.902271	0.52227|0.52227	.|.	.|.	ENSG00000122483|ENSG00000122483	ENST00000370276|ENST00000343253;ENST00000401026;ENST00000557479;ENST00000338949;ENST00000455267	.|.	.|.	.|.	5.84|5.84	5.84|5.84	0.93424|0.93424	.|.	.|0.169095	.|0.50627	.|D	.|0.000110	T|T	0.30293|0.30293	0.0760|0.0760	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	.|P	.|0.47910	.|0.902	.|B	.|0.43301	.|0.415	T|T	0.19484|0.19484	-1.0304|-1.0304	5|9	.|0.09084	.|T	.|0.74	.|.	12.0845|12.0845	0.53690|0.53690	0.9314:0.0:0.0686:0.0|0.9314:0.0:0.0686:0.0	.|.	.|402	.|G3V388	.|.	V|S	338|284;284;402;83;4	.|.	.|ENSP00000344380:N83S	I|N	+|+	1|2	0|0	CCDC18|CCDC18	93443710|93443710	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.918000|0.918000	0.54935|0.54935	2.192000|2.192000	0.42649|0.42649	2.234000|2.234000	0.73211|0.73211	0.528000|0.528000	0.53228|0.53228	ATA|AAT		0.289	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000382327.1	NM_206886		G	93671122	A	G	93671122	3	3	803	1	0	0	0	0	1	0	0	0	2796	101	4	3	1235	3	CCDC18	1	93671122	Missense_Mutation	SNP	A	TCGA-UZ-A9PO-01A-11D-A382-10	34543953	93671122	155579499	6	47839											
OLFML2B	25903	hgsc.bcm.edu	37	1	161989728	161989728	+	Missense_Mutation	SNP	G	G	T			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr1:161989728G>T	ENST00000294794.3	-	2	842	c.419C>A	c.(418-420)gCa>gAa	p.A140E	OLFML2B_ENST00000367940.2_Missense_Mutation_p.A140E	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	140					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)			CTGGCTGTCTGCCTCCCGCAG	0.577																																																0													52	51	51					1																	161989728		2203	4300	6503	SO:0001583	missense	25903			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.419C>A	chr1.hg19:g.161989728G>T	ENSP00000294794:p.Ala140Glu		B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Missense_Mutation	SNP	ENST00000294794.3	hg19	CCDS1236.1	.	.	.	.	.	.	.	.	.	.	G	12.71	2.018710	0.35606	.	.	ENSG00000162745	ENST00000294794;ENST00000367940	T;T	0.49139	0.79;0.79	4.64	3.72	0.42706	.	.	.	.	.	T	0.39009	0.1062	L	0.43923	1.385	0.32334	N	0.560703	D;D	0.59767	0.961;0.986	P;P	0.53062	0.454;0.717	T	0.39702	-0.9601	8	0.56958	D	0.05	.	13.9466	0.64089	0.084:0.0:0.916:0.0	.	140;140	F2Z3N3;Q68BL8	.;OLM2B_HUMAN	E	140	ENSP00000294794:A140E;ENSP00000356917:A140E	ENSP00000294794:A140E	A	-	2	0	OLFML2B	160256352	1.000000	0.71417	0.739000	0.30968	0.577000	0.36160	7.202000	0.77856	0.694000	0.31654	-1.134000	0.01955	GCA		0.577	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441		T	161989728	G	T	161989728	3	4	803	1	0	0	0	0	1	0	0	0	10860	1319	46	4	1861	4	OLFML2B	1	161989728	Missense_Mutation	SNP	G	TCGA-UZ-A9PO-01A-11D-A382-10	68318606	161989728	87260893	7	47840											
DYRK3	8444	hgsc.bcm.edu	37	1	206821237	206821237	+	Silent	SNP	C	C	A			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr1:206821237C>A	ENST00000367109.2	+	3	862	c.694C>A	c.(694-696)Cga>Aga	p.R232R	DYRK3_ENST00000367106.1_Silent_p.R212R|DYRK3_ENST00000367108.3_Silent_p.R212R|DYRK3_ENST00000489878.1_Intron	NM_003582.2	NP_003573.2	O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	232	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)			TCACAAACTTCGACAGTACGT	0.468																																					Melanoma(164;427 2622 26826 51707)											0													72	68	69					1																	206821237		2203	4300	6503	SO:0001819	synonymous_variant	8444			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.694C>A	chr1.hg19:g.206821237C>A			D3DT79|Q7Z752|Q9HBY6|Q9HBY7	Silent	SNP	ENST00000367109.2	hg19	CCDS30999.1																																																																																				0.468	DYRK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088458.1	NM_003582		A	206821237	C	A	206821237	2	1	803	1	0	0	0	0	0	0	0	1	4859	876	31	4		4	DYRK3	1	206821237	Silent	SNP	C	TCGA-UZ-A9PO-01A-11D-A382-10	44831509	206821237	42429384	8	47841											
SMEK2	57223	hgsc.bcm.edu	37	2	55795473	55795473	+	Frame_Shift_Del	DEL	T	T	-			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr2:55795473delT	ENST00000345102.5	-	13	2093	c.1792delA	c.(1792-1794)attfs	p.I598fs	SMEK2_ENST00000407823.3_Frame_Shift_Del_p.I566fs|SNORA12_ENST00000390873.1_RNA|SMEK2_ENST00000272313.5_Frame_Shift_Del_p.I513fs	NM_001122964.1	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	598					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TTAAGTCCAATTATCCGCCTC	0.318																																																0													58	62	61					2																	55795473		2203	4297	6500	SO:0001589	frameshift_variant	57223			AB037808	CCDS1855.1, CCDS46289.1, CCDS62913.1	2p16.1	2008-09-15			ENSG00000138041				29267	protein-coding gene	gene with protein product		610352				16085932, 18614045	Standard	NM_001122964		Approved	PSY2, FLFL2, KIAA1387, FLJ31474	uc002rzc.3	Q5MIZ7	OTTHUMG00000129336	ENST00000345102.5:c.1792delA	chr2.hg19:g.55795473delT	ENSP00000339769:p.Ile598fs		Q6P9B0|Q86XB8|Q9BQJ0|Q9BRK2|Q9H913|Q9P2G0	Frame_Shift_Del	DEL	ENST00000345102.5	hg19	CCDS46289.1																																																																																				0.318	SMEK2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251483.1	NM_020463		-	55795473	T	-	55795473	7	5	803	1	0	1	0	1	0	0	0	0	14800	1493	52	0	777	0	SMEK2	2	55795473	Frame_Shift_Del	DEL	T	TCGA-UZ-A9PO-01A-11D-A382-10		55795473	187403900	9	47842											
FASTKD1	79675	hgsc.bcm.edu	37	2	170403017	170403017	+	Frame_Shift_Del	DEL	T	T	-			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr2:170403017delT	ENST00000453153.2	-	8	1758	c.1412delA	c.(1411-1413)aatfs	p.N471fs	FASTKD1_ENST00000453929.2_Frame_Shift_Del_p.N471fs	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	471					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						CGCAGTCATATTATCCAAATA	0.383																																																0													120	105	110					2																	170403017		2203	4300	6503	SO:0001589	frameshift_variant	79675			AL832058	CCDS33318.1, CCDS63051.1	2q31.1	2008-02-05			ENSG00000138399	ENSG00000138399			26150	protein-coding gene	gene with protein product						11347906	Standard	NM_024622		Approved	FLJ21901	uc002uev.4	Q53R41	OTTHUMG00000154953	ENST00000453153.2:c.1412delA	chr2.hg19:g.170403017delT	ENSP00000400513:p.Asn471fs		Q8N583|Q8TEA9|Q96JM5|Q96N71|Q9H6T4	Frame_Shift_Del	DEL	ENST00000453153.2	hg19	CCDS33318.1																																																																																				0.383	FASTKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337788.2	NM_024622		-	170403017	T	-	170403017	7	5	803	1	0	1	0	1	0	0	0	0	5687	1493	52	0	1163	0	FASTKD1	2	170403017	Frame_Shift_Del	DEL	T	TCGA-UZ-A9PO-01A-11D-A382-10	114607544	170403017	72796356	10	47843											
IHH	3549	hgsc.bcm.edu	37	2	219920563	219920563	+	Missense_Mutation	SNP	C	C	A			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr2:219920563C>A	ENST00000295731.6	-	3	601	c.602G>T	c.(601-603)gGc>gTc	p.G201V	MIR3131_ENST00000583592.1_RNA	NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN	indian hedgehog	201					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)		GAAGCAGCCGCCCGTCTTGGC	0.667																																																0													17	18	18					2																	219920563		2198	4295	6493	SO:0001583	missense	3549			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.602G>T	chr2.hg19:g.219920563C>A	ENSP00000295731:p.Gly201Val		B9EGM5|O43322|Q8N4B9	Missense_Mutation	SNP	ENST00000295731.6	hg19	CCDS33380.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.783324	0.90282	.	.	ENSG00000163501	ENST00000295731	D	0.99483	-5.99	5.29	5.29	0.74685	Hedgehog/intein hint, N-terminal (1);Peptidase C46, hedgehog protein, hint region (1);	0.155258	0.56097	D	0.000023	D	0.99569	0.9845	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.98302	1.0519	10	0.66056	D	0.02	-7.1352	18.5642	0.91112	0.0:1.0:0.0:0.0	.	201	Q14623	IHH_HUMAN	V	201	ENSP00000295731:G201V	ENSP00000295731:G201V	G	-	2	0	IHH	219628807	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	7.729000	0.84864	2.469000	0.83416	0.561000	0.74099	GGC		0.667	IHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336408.2	NM_002181		A	219920563	C	A	219920563	3	1	803	1	0	0	0	0	1	0	0	0	7609	739	26	4	637	4	IHH	2	219920563	Missense_Mutation	SNP	C	TCGA-UZ-A9PO-01A-11D-A382-10	49517546	219920563	23278810	11	47844											
ATG4B	23192	hgsc.bcm.edu	37	2	242611647	242611647	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr2:242611647G>T	ENST00000404914.3	+	13	1253	c.1150G>T	c.(1150-1152)Gaa>Taa	p.E384*	ATG4B_ENST00000396411.3_Nonsense_Mutation_p.E310*|ATG4B_ENST00000402096.1_Nonsense_Mutation_p.E322*|ATG4B_ENST00000405546.3_3'UTR|ATG4B_ENST00000474739.2_Nonsense_Mutation_p.E370*	NM_013325.4|NM_178326.2	NP_037457.3|NP_847896.1	Q9Y4P1	ATG4B_HUMAN	autophagy related 4B, cysteine peptidase	384					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)		CTTCGACTCAGAAGATGAAGA	0.537																																					Melanoma(78;458 1323 6342 12171 39523)											0													94	92	93					2																	242611647		1916	4102	6018	SO:0001587	stop_gained	23192			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.1150G>T	chr2.hg19:g.242611647G>T	ENSP00000384259:p.Glu384*		B7WNK2|Q53NU4|Q6ZUV8|Q8WYM9|Q96K07|Q96K96|Q96SZ1|Q9Y2F2	Nonsense_Mutation	SNP	ENST00000404914.3	hg19	CCDS46564.1	.	.	.	.	.	.	.	.	.	.	G	38	7.119008	0.98077	.	.	ENSG00000168397	ENST00000337606;ENST00000402096;ENST00000404914;ENST00000474739;ENST00000396411	.	.	.	5.55	4.66	0.58398	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-3.9894	15.725	0.77747	0.0:0.0:0.8623:0.1377	.	.	.	.	X	501;322;384;370;310	.	ENSP00000336547:E501X	E	+	1	0	ATG4B	242260320	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.660000	0.91121	1.326000	0.45319	0.655000	0.94253	GAA		0.537	ATG4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322967.3	NM_013325		T	242611647	G	T	242611647	4	4	803	1	0	0	0	0	0	1	0	0	1097	943	33	4	1220	4	ATG4B	2	242611647	Nonsense_Mutation	SNP	G	TCGA-UZ-A9PO-01A-11D-A382-10	22691084	242611647	587726	12	47845											
FBLN2	2199	hgsc.bcm.edu	37	3	13672240	13672240	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr3:13672240G>A	ENST00000295760.7	+	14	2938	c.2869G>A	c.(2869-2871)Gcc>Acc	p.A957T	FBLN2_ENST00000535798.1_Missense_Mutation_p.A983T|FBLN2_ENST00000404922.3_Missense_Mutation_p.A1004T|FBLN2_ENST00000492059.1_Missense_Mutation_p.A1004T	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	957	EGF-like 8; 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)			CCAGGAGTGTGCCAACATCTA	0.632																																																0													34	40	38					3																	13672240		2196	4299	6495	SO:0001583	missense	2199			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.2869G>A	chr3.hg19:g.13672240G>A	ENSP00000295760:p.Ala957Thr		B7Z9C5|Q8IUI0|Q8IUI1	Missense_Mutation	SNP	ENST00000295760.7	hg19	CCDS46762.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.171629	0.57584	.	.	ENSG00000163520	ENST00000535798;ENST00000404922;ENST00000295760;ENST00000492059	D;D;D;D	0.86956	-2.19;-2.17;-2.13;-2.17	5.26	3.42	0.39159	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.115243	0.64402	N	0.000016	T	0.63546	0.2520	N	0.00677	-1.265	0.53688	D	0.999973	B;B;B	0.18166	0.016;0.013;0.026	B;B;B	0.22601	0.04;0.034;0.025	T	0.55398	-0.8147	10	0.34782	T	0.22	.	8.5938	0.33703	0.2416:0.0:0.7584:0.0	.	957;1004;983	P98095;P98095-2;F5H1F3	FBLN2_HUMAN;.;.	T	983;1004;957;1004	ENSP00000445705:A983T;ENSP00000384169:A1004T;ENSP00000295760:A957T;ENSP00000420042:A1004T	ENSP00000295760:A957T	A	+	1	0	FBLN2	13647241	1.000000	0.71417	0.928000	0.36995	0.989000	0.77384	4.954000	0.63631	0.573000	0.29400	0.561000	0.74099	GCC		0.632	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	NM_001004019		A	13672240	G	A	13672240	3	1	803	1	0	0	0	0	1	0	0	0	5701	1319	46	2	1754	2	FBLN2	3	13672240	Missense_Mutation	SNP	G	TCGA-UZ-A9PO-01A-11D-A382-10		13672240	184350190	13	47846											
CMC1	152100	hgsc.bcm.edu	37	3	28361046	28361046	+	Missense_Mutation	SNP	A	A	G			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr3:28361046A>G	ENST00000466830.1	+	4	446	c.247A>G	c.(247-249)Aag>Gag	p.K83E	AZI2_ENST00000295748.3_5'Flank|CMC1_ENST00000469102.1_3'UTR|CMC1_ENST00000423894.1_Missense_Mutation_p.K53E	NM_182523.1	NP_872329.1	Q7Z7K0	COXM1_HUMAN	C-x(9)-C motif containing 1	83						mitochondrion (GO:0005739)	metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)	5						GGAATACCTGAAGGAAAGGGA	0.343																																																0													77	79	78					3																	28361046		2203	4298	6501	SO:0001583	missense	152100			BC052644	CCDS33722.1	3p24.1	2013-10-18	2013-10-18	2008-06-20	ENSG00000187118	ENSG00000187118			28783	protein-coding gene	gene with protein product		615166	"chromosome 3 open reading frame 68", "COX assembly mitochondrial protein 1 homolog (S. cerevisiae)"	C3orf68		18443040	Standard	NM_182523		Approved	MGC61571	uc003cea.3	Q7Z7K0	OTTHUMG00000155660	ENST00000466830.1:c.247A>G	chr3.hg19:g.28361046A>G	ENSP00000418348:p.Lys83Glu		Q68DJ7	Missense_Mutation	SNP	ENST00000466830.1	hg19	CCDS33722.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.64|13.64	2.296267|2.296267	0.40594|0.40594	.|.	.|.	ENSG00000187118|ENSG00000187118	ENST00000418849|ENST00000466830;ENST00000423894	.|T;T	.|0.42513	.|0.97;0.97	5.72|5.72	4.54|4.54	0.55810|0.55810	.|.	.|0.257041	.|0.44483	.|D	.|0.000450	T|T	0.36468|0.36468	0.0968|0.0968	L|L	0.41356|0.41356	1.27|1.27	0.80722|0.80722	D|D	1|1	.|B	.|0.21905	.|0.062	.|B	.|0.27715	.|0.082	T|T	0.09796|0.09796	-1.0658|-1.0658	5|10	.|0.37606	.|T	.|0.19	-11.3586|-11.3586	12.8107|12.8107	0.57637|0.57637	0.8632:0.1368:0.0:0.0|0.8632:0.1368:0.0:0.0	.|.	.|83	.|Q7Z7K0	.|COXAM_HUMAN	G|E	89|83;53	.|ENSP00000418348:K83E;ENSP00000404581:K53E	.|ENSP00000404581:K53E	E|K	+|+	2|1	0|0	CMC1|CMC1	28336050|28336050	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	5.951000|5.951000	0.70273|0.70273	0.960000|0.960000	0.38005|0.38005	0.460000|0.460000	0.39030|0.39030	GAA|AAG		0.343	CMC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341087.1	NM_182523		G	28361046	A	G	28361046	3	3	803	1	0	0	0	0	1	0	0	0	3579	247	9	3	261	3	CMC1	3	28361046	Missense_Mutation	SNP	A	TCGA-UZ-A9PO-01A-11D-A382-10	14688806	28361046	169661384	14	47847											
GOLGA4	2803	hgsc.bcm.edu	37	3	37368460	37368460	+	Frame_Shift_Del	DEL	C	C	-			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr3:37368460delC	ENST00000361924.2	+	14	5457	c.5083delC	c.(5083-5085)cttfs	p.L1695fs	GOLGA4_ENST00000356847.4_Frame_Shift_Del_p.L1717fs|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1695	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						GGAAGAAAAACTTAAGTCAGT	0.368																																																0													106	116	113					3																	37368460		2201	4296	6497	SO:0001589	frameshift_variant	2803			U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"golgin 245"	602509	"golgi autoantigen, golgin subfamily a, 4"			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.5083delC	chr3.hg19:g.37368460delC	ENSP00000354486:p.Leu1695fs		F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Frame_Shift_Del	DEL	ENST00000361924.2	hg19	CCDS2666.1																																																																																				0.368	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078		-	37368460	C	-	37368460	7	5	803	1	0	1	0	1	0	0	0	0	6557	565	20	0	5207	0	GOLGA4	3	37368460	Frame_Shift_Del	DEL	C	TCGA-UZ-A9PO-01A-11D-A382-10	9007414	37368460	160653970	15	47848											
C3orf67	200844	hgsc.bcm.edu	37	3	58817468	58817468	+	Missense_Mutation	SNP	C	C	T			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr3:58817468C>T	ENST00000482387.1	-	10	1840	c.1744G>A	c.(1744-1746)Gtc>Atc	p.V582I	RP11-147N17.1_ENST00000463703.1_RNA|RP11-147N17.1_ENST00000482372.1_RNA|RP11-147N17.1_ENST00000493123.1_RNA|RP11-147N17.1_ENST00000492031.1_RNA|C3orf67_ENST00000295966.7_Missense_Mutation_p.V456I			Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	582										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		CTTATGCTGACATTACAGTTG	0.537																																																0													189	148	161					3																	58817468		2203	4300	6503	SO:0001583	missense	200844			AK124920	CCDS33776.1	3p14.2	2011-01-25			ENSG00000163689	ENSG00000163689			24763	protein-coding gene	gene with protein product							Standard	NM_198463		Approved	FLJ42117, FLJ42930	uc003dkt.1	Q6ZVT6	OTTHUMG00000159151	ENST00000482387.1:c.1744G>A	chr3.hg19:g.58817468C>T	ENSP00000417122:p.Val582Ile		B9EKV6|Q6ZV69	Missense_Mutation	SNP	ENST00000482387.1	hg19		.	.	.	.	.	.	.	.	.	.	C	17.87	3.494293	0.64186	.	.	ENSG00000163689	ENST00000295966;ENST00000482387	T;T	0.20881	2.1;2.04	5.92	5.04	0.67666	.	0.071801	0.56097	D	0.000033	T	0.23532	0.0569	L	0.52759	1.655	0.80722	D	1	P;P	0.51537	0.724;0.946	B;P	0.45610	0.292;0.487	T	0.00402	-1.1762	9	.	.	.	-11.6553	11.7693	0.51949	0.0:0.8666:0.0:0.1334	.	456;582	Q6ZVT6-2;Q6ZVT6	.;CC067_HUMAN	I	456;582	ENSP00000295966:V456I;ENSP00000417122:V582I	.	V	-	1	0	C3orf67	58792508	0.985000	0.35326	0.993000	0.49108	0.996000	0.88848	2.410000	0.44592	2.809000	0.96659	0.467000	0.42956	GTC		0.537	C3orf67-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000353803.1	NM_198463		T	58817468	C	T	58817468	3	4	803	1	0	0	0	0	1	0	0	0	2243	478	17	2	341	2	C3orf67	3	58817468	Missense_Mutation	SNP	C	TCGA-UZ-A9PO-01A-11D-A382-10	21449008	58817468	139204962	16	47849											
CASR	846	hgsc.bcm.edu	37	3	121976017	121976017	+	Missense_Mutation	SNP	C	C	A			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr3:121976017C>A	ENST00000490131.1	+	3	647	c.275C>A	c.(274-276)aCg>aAg	p.T92K	CASR_ENST00000296154.5_Missense_Mutation_p.T92K|CASR_ENST00000498619.1_Missense_Mutation_p.T92K	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	92					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)	p.T92M(1)		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)	CCCAACTTGACGCTGGGATAC	0.443																																																1	Substitution - Missense(1)	lung(1)											118	119	118					3																	121976017		2203	4300	6503	SO:0001583	missense	846			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.275C>A	chr3.hg19:g.121976017C>A	ENSP00000418685:p.Thr92Lys		Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	ENST00000490131.1	hg19	CCDS3010.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.509339	0.64522	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.83335	-1.71;-1.71;-1.71	5.84	5.84	0.93424	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.89128	0.6627	L	0.58969	1.84	0.80722	D	1	D;D	0.62365	0.991;0.984	P;P	0.62435	0.902;0.779	D	0.89049	0.3454	10	0.62326	D	0.03	.	19.1433	0.93455	0.0:1.0:0.0:0.0	.	92;92	E7ENE0;P41180	.;CASR_HUMAN	K	92	ENSP00000418685:T92K;ENSP00000420194:T92K;ENSP00000296154:T92K	ENSP00000296154:T92K	T	+	2	0	CASR	123458707	1.000000	0.71417	0.992000	0.48379	0.163000	0.22366	5.999000	0.70665	2.760000	0.94817	0.655000	0.94253	ACG		0.443	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		A	121976017	C	A	121976017	3	1	803	1	0	0	0	0	1	0	0	0	2684	536	19	4	281	4	CASR	3	121976017	Missense_Mutation	SNP	C	TCGA-UZ-A9PO-01A-11D-A382-10	63158549	121976017	76046413	17	47850											
MAGEF1	64110	hgsc.bcm.edu	37	3	184428718	184428718	+	Missense_Mutation	SNP	C	C	A			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr3:184428718C>A	ENST00000317897.3	-	1	1118	c.892G>T	c.(892-894)Gcc>Tcc	p.A298S		NM_022149.4	NP_071432.2	Q9HAY2	MAGF1_HUMAN	melanoma antigen family F, 1	298						extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(143;4.61e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;5.64e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.56e-22)			ctagcactggccctggccctc	0.607																																																0													43	42	43					3																	184428718		2203	4300	6503	SO:0001583	missense	64110			AF295378	CCDS3269.1	3q13	2008-02-05			ENSG00000177383	ENSG00000177383			29639	protein-coding gene	gene with protein product		609267				11313144	Standard	NM_022149		Approved		uc003fpa.3	Q9HAY2	OTTHUMG00000156712	ENST00000317897.3:c.892G>T	chr3.hg19:g.184428718C>A	ENSP00000315064:p.Ala298Ser		Q9H215	Missense_Mutation	SNP	ENST00000317897.3	hg19	CCDS3269.1	.	.	.	.	.	.	.	.	.	.	C	9.883	1.202224	0.22121	.	.	ENSG00000177383	ENST00000317897	T	0.04406	3.63	3.3	2.42	0.29668	.	1.672500	0.04158	N	0.322526	T	0.06280	0.0162	L	0.48218	1.51	0.09310	N	1	P	0.40970	0.734	B	0.37015	0.239	T	0.36311	-0.9753	10	0.46703	T	0.11	.	6.1885	0.20510	0.0:0.861:0.0:0.139	.	298	Q9HAY2	MAGF1_HUMAN	S	298	ENSP00000315064:A298S	ENSP00000315064:A298S	A	-	1	0	MAGEF1	185911412	0.002000	0.14202	0.005000	0.12908	0.038000	0.13279	1.110000	0.31147	0.968000	0.38212	0.561000	0.74099	GCC		0.607	MAGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345417.1	NM_022149		A	184428718	C	A	184428718	3	1	803	1	0	0	0	0	1	0	0	0	9189	739	26	4	35	4	MAGEF1	3	184428718	Missense_Mutation	SNP	C	TCGA-UZ-A9PO-01A-11D-A382-10	62452701	184428718	13593712	18	47851											
DGKQ	1609	hgsc.bcm.edu	37	4	960305	960305	+	Silent	SNP	C	C	T	rs373354724		TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr4:960305C>T	ENST00000273814.3	-	12	1450	c.1377G>A	c.(1375-1377)acG>acA	p.T459T	DGKQ_ENST00000502309.1_5'UTR	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	459	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|protein kinase C signaling (GO:0070528)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to ATP (GO:0033198)|thrombin receptor signaling pathway (GO:0070493)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|phospholipase binding (GO:0043274)			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CCATCAGCATCGTCCGCTGGA	0.701																																					Esophageal Squamous(17;537 645 4447 26373)											0								C		1,4403	2.1+/-5.4	0,1,2201	45	46	45		1377	-4.7	0.1	4		45	0,8596		0,0,4298	no	coding-synonymous	DGKQ	NM_001347.2		0,1,6499	TT,TC,CC		0.0,0.0227,0.0077		459/943	960305	1,12999	2202	4298	6500	SO:0001819	synonymous_variant	1609			L38707	CCDS3342.1	4p16.3	2008-08-29	2002-08-29		ENSG00000145214	ENSG00000145214			2856	protein-coding gene	gene with protein product		601207	"diacylglycerol kinase, theta (110kD)"	DAGK4		8617502, 9099683	Standard	NM_001347		Approved	DAGK, DAGK7	uc003gbw.4	P52824	OTTHUMG00000088629	ENST00000273814.3:c.1377G>A	chr4.hg19:g.960305C>T			Q6P3W4	Silent	SNP	ENST00000273814.3	hg19	CCDS3342.1	.	.	.	.	.	.	.	.	.	.	C	0.112	-1.137407	0.01742	2.27E-4	0.0	ENSG00000145214	ENST00000509465	.	.	.	3.92	-4.66	0.03329	.	.	.	.	.	T	0.29458	0.0734	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.27971	-1.0058	4	.	.	.	.	8.4341	0.32775	0.0:0.6571:0.1026:0.2404	.	.	.	.	Q	406	.	.	R	-	2	0	DGKQ	950305	0.000000	0.05858	0.050000	0.19076	0.016000	0.09150	-3.570000	0.00427	-1.914000	0.01078	-1.851000	0.00568	CGA		0.701	DGKQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000200888.1			T	960305	C	T	960305	2	4	803	1	0	0	0	0	0	0	0	1	4475	871	31	1		1	DGKQ	4	960305	Silent	SNP	C	TCGA-UZ-A9PO-01A-11D-A382-10		960305	190193971	19	47852											
HGFAC	3083	hgsc.bcm.edu	37	4	3443797	3443797	+	Silent	SNP	C	C	G	rs538844201	byFrequency	TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	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															0													13	16	15					4																	3443797		1723	3604	5327	SO:0001819	synonymous_variant	3083			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	chr4.hg19:g.3443797C>G			Q14726|Q2M1W7|Q53X47	Silent	SNP	ENST00000382774.3	hg19	CCDS3369.1																																																																																				0.716	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206607.3			G	3443797	C	G	3443797	2	3	803	1	0	0	0	0	0	0	0	1	7088	842	30	4		4	HGFAC	4	3443797	Silent	SNP	C	TCGA-UZ-A9PO-01A-11D-A382-10	2483492	3443797	187710479	20	47853											
SORCS2	57537	hgsc.bcm.edu	37	4	7691237	7691237	+	Missense_Mutation	SNP	C	C	G			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr4:7691237C>G	ENST00000507866.2	+	11	1622	c.1513C>G	c.(1513-1515)Ctg>Gtg	p.L505V	SORCS2_ENST00000329016.9_Missense_Mutation_p.L333V	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	505					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						GCACCTGCACCTGCGCTGGGC	0.562																																																0													33	37	35					4																	7691237		2130	4246	6376	SO:0001583	missense	57537			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.1513C>G	chr4.hg19:g.7691237C>G	ENSP00000422185:p.Leu505Val		Q9P2L7	Missense_Mutation	SNP	ENST00000507866.2	hg19	CCDS47008.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.319262	0.60524	.	.	ENSG00000184985	ENST00000507866;ENST00000329016	T;T	0.39406	1.08;1.08	3.24	2.36	0.29203	VPS10 (1);	0.000000	0.64402	D	0.000019	T	0.43233	0.1238	M	0.83223	2.63	0.48087	D	0.999589	P;P	0.48694	0.748;0.914	B;B	0.38842	0.247;0.283	T	0.53401	-0.8444	10	0.66056	D	0.02	.	10.9698	0.47432	0.0:0.9033:0.0:0.0967	.	333;505	B5MED8;Q96PQ0	.;SORC2_HUMAN	V	505;333	ENSP00000422185:L505V;ENSP00000329124:L333V	ENSP00000329124:L333V	L	+	1	2	SORCS2	7742137	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.097000	0.50251	0.655000	0.30866	0.557000	0.71058	CTG		0.562	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	NM_020777		G	7691237	C	G	7691237	3	3	803	1	0	0	0	0	1	0	0	0	14937	680	24	4	1555	4	SORCS2	4	7691237	Missense_Mutation	SNP	C	TCGA-UZ-A9PO-01A-11D-A382-10	4247440	7691237	183463039	21	47854											
BOD1L	259282	hgsc.bcm.edu	37	4	13603230	13603230	+	Missense_Mutation	SNP	T	T	C			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr4:13603230T>C	ENST00000040738.5	-	10	5429	c.5294A>G	c.(5293-5295)aAt>aGt	p.N1765S		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1765						nucleus (GO:0005634)	DNA binding (GO:0003677)										TGGTGCATCATTATCTCCCAG	0.522																																																0													270	259	263					4																	13603230		2203	4300	6503	SO:0001583	missense	259282			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.5294A>G	chr4.hg19:g.13603230T>C	ENSP00000040738:p.Asn1765Ser		Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	hg19	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	T	6.387	0.439432	0.12104	.	.	ENSG00000038219	ENST00000040738	T	0.09538	2.97	4.81	-3.17	0.05202	.	1.190080	0.05960	N	0.640395	T	0.07369	0.0186	L	0.27053	0.805	0.09310	N	1	B	0.25667	0.131	B	0.25140	0.058	T	0.40961	-0.9535	10	0.38643	T	0.18	-0.5436	5.7719	0.18257	0.0:0.2174:0.396:0.3865	.	1765	Q8NFC6	BOD1L_HUMAN	S	1765	ENSP00000040738:N1765S	ENSP00000040738:N1765S	N	-	2	0	BOD1L	13212328	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	0.224000	0.17738	-0.717000	0.04955	0.459000	0.35465	AAT		0.522	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		C	13603230	T	C	13603230	3	2	803	1	0	0	0	0	1	0	0	0	1483	1493	52	3	3929	3	BOD1L	4	13603230	Missense_Mutation	SNP	T	TCGA-UZ-A9PO-01A-11D-A382-10	5911993	13603230	177551046	22	47855											
STAP1	26228	hgsc.bcm.edu	37	4	68442967	68442967	+	Missense_Mutation	SNP	C	C	T			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr4:68442967C>T	ENST00000265404.2	+	4	435	c.353C>T	c.(352-354)aCa>aTa	p.T118I	STAP1_ENST00000396225.1_Missense_Mutation_p.T118I	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	118	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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						TTCATTCTTACAGTAACAGAG	0.378																																																0													81	74	76					4																	68442967		2203	4300	6503	SO:0001583	missense	26228			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.353C>T	chr4.hg19:g.68442967C>T	ENSP00000265404:p.Thr118Ile		B2R980	Missense_Mutation	SNP	ENST00000265404.2	hg19	CCDS3515.1	.	.	.	.	.	.	.	.	.	.	C	17.92	3.507469	0.64410	.	.	ENSG00000035720	ENST00000265404;ENST00000396225	T;T	0.30714	1.52;1.52	5.01	5.01	0.66863	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.56262	0.1973	M	0.77103	2.36	0.48762	D	0.999709	D	0.89917	1.0	D	0.87578	0.998	T	0.59547	-0.7434	10	0.87932	D	0	-18.0375	14.0103	0.64493	0.0:1.0:0.0:0.0	.	118	Q9ULZ2	STAP1_HUMAN	I	118	ENSP00000265404:T118I;ENSP00000379527:T118I	ENSP00000265404:T118I	T	+	2	0	STAP1	68125562	1.000000	0.71417	0.998000	0.56505	0.793000	0.44817	3.789000	0.55454	2.764000	0.94973	0.655000	0.94253	ACA		0.378	STAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251434.1	NM_012108		T	68442967	C	T	68442967	3	4	803	1	0	0	0	0	1	0	0	0	15257	478	17	2	367	2	STAP1	4	68442967	Missense_Mutation	SNP	C	TCGA-UZ-A9PO-01A-11D-A382-10	54839737	68442967	122711309	23	47856											
YTHDC1	91746	hgsc.bcm.edu	37	4	69203170	69203170	+	Splice_Site	SNP	T	T	C			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr4:69203170T>C	ENST00000344157.4	-	4	795		c.e4-2		YTHDC1_ENST00000355665.3_Splice_Site|YTHDC1_ENST00000579690.1_Splice_Site	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1						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						CCCAATTCTCTGATGTTTAAA	0.403																																																0													73	69	70					4																	69203170		2203	4300	6503	SO:0001630	splice_region_variant	91746			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.460-2A>G	chr4.hg19:g.69203170T>C			Q4W5Q3|Q7Z622|Q8TF35	Splice_Site	SNP	ENST00000344157.4	hg19	CCDS33992.1	.	.	.	.	.	.	.	.	.	.	T	17.67	3.446512	0.63178	.	.	ENSG00000083896	ENST00000344157;ENST00000355665	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8641	0.70401	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	YTHDC1	68885765	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.367000	0.73099	2.097000	0.63578	0.377000	0.23210	.		0.403	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251437.1	NM_133370	Intron	C	69203170	T	C	69203170	5	2	803	1	0	0	0	0	0	0	1	0	17501	1594	55	3	1781	3	YTHDC1	4	69203170	Splice_Site	SNP	T	TCGA-UZ-A9PO-01A-11D-A382-10	760203	69203170	121951106	24	47857											
FSTL5	56884	hgsc.bcm.edu	37	4	162307261	162307261	+	Missense_Mutation	SNP	G	G	T			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr4:162307261G>T	ENST00000306100.5	-	16	2618	c.2182C>A	c.(2182-2184)Cag>Aag	p.Q728K	FSTL5_ENST00000536695.1_Missense_Mutation_p.Q727K|FSTL5_ENST00000427802.2_Missense_Mutation_p.Q718K|RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000379164.4_Missense_Mutation_p.Q727K	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	728						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)		AAAGCCTCCTGTATTTCTCCT	0.418																																																0													87	83	84					4																	162307261		2203	4300	6503	SO:0001583	missense	56884			BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"EF-hand domain containing", "Immunoglobulin superfamily / I-set domain containing"	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.2182C>A	chr4.hg19:g.162307261G>T	ENSP00000305334:p.Gln728Lys		E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	ENST00000306100.5	hg19	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	G	13.58	2.278192	0.40294	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.28255	1.62;1.62;1.62;1.62	5.76	5.76	0.90799	WD40/YVTN repeat-like-containing domain (1);	0.637840	0.17348	N	0.177509	T	0.18923	0.0454	N	0.16656	0.425	0.22457	N	0.999086	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.13072	-1.0523	10	0.09843	T	0.71	.	13.876	0.63653	0.0:0.0:0.8477:0.1523	.	718;727;728	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	K	728;727;718;727	ENSP00000305334:Q728K;ENSP00000368462:Q727K;ENSP00000389270:Q718K;ENSP00000440409:Q727K	ENSP00000305334:Q728K	Q	-	1	0	FSTL5	162526711	1.000000	0.71417	0.501000	0.27601	0.994000	0.84299	4.802000	0.62539	2.702000	0.92279	0.655000	0.94253	CAG		0.418	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		T	162307261	G	T	162307261	3	4	803	1	0	0	0	0	1	0	0	0	6082	1386	48	4	365	4	FSTL5	4	162307261	Missense_Mutation	SNP	G	TCGA-UZ-A9PO-01A-11D-A382-10	93104091	162307261	28847015	25	47858											
MAP3K1	4214	hgsc.bcm.edu	37	5	56161247	56161247	+	Missense_Mutation	SNP	C	C	G			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr5:56161247C>G	ENST00000399503.3	+	5	1116	c.1116C>G	c.(1114-1116)gaC>gaG	p.D372E		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	372					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		AACCTTCAGACCCAATGTTAT	0.318																																																0													81	73	75					5																	56161247		1806	4073	5879	SO:0001583	missense	4214			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6848	protein-coding gene	gene with protein product		600982	"mitogen-activated protein kinase kinase kinase 1"	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.1116C>G	chr5.hg19:g.56161247C>G	ENSP00000382423:p.Asp372Glu			Missense_Mutation	SNP	ENST00000399503.3	hg19	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.758012	0.49468	.	.	ENSG00000095015	ENST00000399503	T	0.68479	-0.33	5.42	0.882	0.19172	.	0.056041	0.64402	D	0.000002	T	0.72961	0.3526	L	0.52573	1.65	0.44531	D	0.997488	D	0.64830	0.994	D	0.72625	0.978	T	0.72178	-0.4369	10	0.87932	D	0	.	9.7787	0.40634	0.0:0.5535:0.0:0.4465	.	372	Q13233	M3K1_HUMAN	E	372	ENSP00000382423:D372E	ENSP00000382423:D372E	D	+	3	2	MAP3K1	56197004	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	0.513000	0.22770	0.305000	0.22832	0.650000	0.86243	GAC		0.318	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066		G	56161247	C	G	56161247	3	3	803	1	0	0	0	0	1	0	0	0	9245	506	18	4	1134	4	MAP3K1	5	56161247	Missense_Mutation	SNP	C	TCGA-UZ-A9PO-01A-11D-A382-10		56161247	124754013	26	47859			1	132		2	2	20	N	C_A	6.444273e-05
MAP3K1	4214	hgsc.bcm.edu	37	5	56161266	56161266	+	Missense_Mutation	SNP	A	A	C			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr5:56161266A>C	ENST00000399503.3	+	5	1135	c.1135A>C	c.(1135-1137)Act>Cct	p.T379P		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	379					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		ATGGAGAAAAACTTTAAAGAA	0.328																																																0													63	57	59					5																	56161266		1794	4064	5858	SO:0001583	missense	4214			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6848	protein-coding gene	gene with protein product		600982	"mitogen-activated protein kinase kinase kinase 1"	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.1135A>C	chr5.hg19:g.56161266A>C	ENSP00000382423:p.Thr379Pro			Missense_Mutation	SNP	ENST00000399503.3	hg19	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	A	14.83	2.651480	0.47362	.	.	ENSG00000095015	ENST00000399503	T	0.69175	-0.38	5.42	5.42	0.78866	.	0.189699	0.44688	N	0.000429	T	0.57902	0.2085	L	0.43152	1.355	0.47819	D	0.999526	D	0.54397	0.966	B	0.41860	0.368	T	0.64339	-0.6431	10	0.87932	D	0	.	10.1654	0.42877	0.9252:0.0:0.0748:0.0	.	379	Q13233	M3K1_HUMAN	P	379	ENSP00000382423:T379P	ENSP00000382423:T379P	T	+	1	0	MAP3K1	56197023	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.286000	0.72665	2.176000	0.68965	0.528000	0.53228	ACT		0.328	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066		C	56161266	A	C	56161266	3	2	803	1	0	0	0	0	1	0	0	0	9245	43	2	5	1153	5	MAP3K1	5	56161266	Missense_Mutation	SNP	A	TCGA-UZ-A9PO-01A-11D-A382-10	19	56161266	124753994	27	47860			1	132		2	2	20	N	C_A	6.444273e-05
COL4A3BP	10087	hgsc.bcm.edu	37	5	74676981	74676981	+	Frame_Shift_Del	DEL	A	A	-			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr5:74676981delA	ENST00000405807.4	-	16	2084	c.1663delT	c.(1663-1665)tgtfs	p.C555fs	COL4A3BP_ENST00000508692.1_5'UTR|COL4A3BP_ENST00000380494.5_Frame_Shift_Del_p.C683fs|COL4A3BP_ENST00000261415.7_Frame_Shift_Del_p.C529fs	NM_005713.2	NP_005704.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	555	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|ceramide metabolic process (GO:0006672)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi ceramide transport (GO:0035621)|heart morphogenesis (GO:0003007)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lipid homeostasis (GO:0055088)|mitochondrion morphogenesis (GO:0070584)|muscle contraction (GO:0006936)|protein phosphorylation (GO:0006468)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ceramide binding (GO:0097001)|ceramide transporter activity (GO:0035620)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein kinase activity (GO:0004672)			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		AAGGTTTGACAAATCATAGCA	0.378																																																0													204	184	191					5																	74676981		2203	4300	6503	SO:0001589	frameshift_variant	10087			AF136450	CCDS4028.1, CCDS4029.1, CCDS47235.1	5q13.3	2013-01-10	2007-06-08	2007-06-08	ENSG00000113163	ENSG00000113163		"StAR-related lipid transfer (START) domain containing", "Pleckstrin homology (PH) domain containing"	2205	protein-coding gene	gene with protein product	"ceramide transporter", "StAR-related lipid transfer (START) domain containing 11"	604677				10212244	Standard	NM_001130105		Approved	GPBP, STARD11, CERT	uc003kdt.3	Q9Y5P4	OTTHUMG00000102068	ENST00000405807.4:c.1663delT	chr5.hg19:g.74676981delA	ENSP00000383996:p.Cys555fs		A8K7S2|B3KUB7|Q53YV1|Q53YV2|Q96Q85|Q96Q88|Q9H2S7|Q9H2S8	Frame_Shift_Del	DEL	ENST00000405807.4	hg19	CCDS4028.1																																																																																				0.378	COL4A3BP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219875.2	NM_005713		-	74676981	A	-	74676981	7	5	803	1	0	1	0	1	0	0	0	0	3694	130	5	0	219	0	COL4A3BP	5	74676981	Frame_Shift_Del	DEL	A	TCGA-UZ-A9PO-01A-11D-A382-10	18515715	74676981	106238279	28	47861											
ERAP1	51752	hgsc.bcm.edu	37	5	96130824	96130824	+	Missense_Mutation	SNP	A	A	T			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr5:96130824A>T	ENST00000443439.2	-	5	906	c.840T>A	c.(838-840)gaT>gaA	p.D280E	ERAP1_ENST00000296754.3_Missense_Mutation_p.D280E	NM_001040458.1|NM_001198541.1	NP_001035548.1|NP_001185470.1	Q9NZ08	ERAP1_HUMAN	endoplasmic reticulum aminopeptidase 1	280					angiogenesis (GO:0001525)|antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|fat cell differentiation (GO:0045444)|membrane protein ectodomain proteolysis (GO:0006509)|positive regulation of angiogenesis (GO:0045766)|regulation of blood pressure (GO:0008217)|regulation of innate immune response (GO:0045088)|response to bacterium (GO:0009617)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|interleukin-1, Type II receptor binding (GO:0005151)|interleukin-6 receptor binding (GO:0005138)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		CCAGTGCATAATCTGCTTGAT	0.398																																																0													74	68	70					5																	96130824		2203	4300	6503	SO:0001583	missense	51752			AB011097	CCDS4085.1, CCDS47250.1	5q15	2014-04-07			ENSG00000164307	ENSG00000164307			18173	protein-coding gene	gene with protein product	"aminopeptidase regulator of TNFR1 shedding", "adipocyte-derived leucine aminopeptidase", "puromycin-insensitive leucyl-specific aminopeptidase"	606832				10220586, 12189246, 16286653	Standard	NM_001198541		Approved	ARTS-1, A-LAP, PILS-AP, KIAA0525, ERAAP1	uc003kml.3	Q9NZ08	OTTHUMG00000128721	ENST00000443439.2:c.840T>A	chr5.hg19:g.96130824A>T	ENSP00000406304:p.Asp280Glu		O60278|Q6UWY6|Q8NEL4|Q8TAD0|Q9UHF8|Q9UKY2	Missense_Mutation	SNP	ENST00000443439.2	hg19	CCDS47250.1	.	.	.	.	.	.	.	.	.	.	A	5.737	0.320456	0.10845	.	.	ENSG00000164307	ENST00000296754;ENST00000443439;ENST00000414384	T;T	0.02421	4.3;4.3	5.91	2.3	0.28687	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.495676	0.24708	N	0.036252	T	0.01592	0.0051	N	0.16098	0.37	0.29821	N	0.830791	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.09377	0.004;0.004;0.004	T	0.43637	-0.9379	10	0.11182	T	0.66	.	5.5807	0.17248	0.5888:0.1402:0.2711:0.0	.	280;280;280	A8K6H1;Q9NZ08;Q9NZ08-2	.;ERAP1_HUMAN;.	E	280	ENSP00000296754:D280E;ENSP00000406304:D280E	ENSP00000296754:D280E	D	-	3	2	ERAP1	96156580	0.005000	0.15991	0.960000	0.40013	0.987000	0.75469	0.017000	0.13399	0.501000	0.28013	0.528000	0.53228	GAT		0.398	ERAP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370699.1	NM_016442		T	96130824	A	T	96130824	3	4	803	1	0	0	0	0	1	0	0	0	5205	98	4	5	2078	5	ERAP1	5	96130824	Missense_Mutation	SNP	A	TCGA-UZ-A9PO-01A-11D-A382-10	21453843	96130824	84784436	29	47862											
PCDHB8	56128	hgsc.bcm.edu	37	5	140559171	140559171	+	Missense_Mutation	SNP	C	C	G			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr5:140559171C>G	ENST00000239444.2	+	1	1801	c.1556C>G	c.(1555-1557)tCg>tGg	p.S519W	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	519	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)			GCCCTCAGGTCGCTGGACTAC	0.687																																																0													85	138	120					5																	140559171		2202	4298	6500	SO:0001583	missense	56128			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.1556C>G	chr5.hg19:g.140559171C>G	ENSP00000239444:p.Ser519Trp		B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	hg19	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	C	12.77	2.037758	0.35989	.	.	ENSG00000120322	ENST00000239444	T	0.01918	4.56	4.22	4.22	0.49857	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.21307	0.0513	H	0.96805	3.885	0.42207	D	0.991799	D	0.76494	0.999	D	0.71414	0.973	T	0.45977	-0.9224	9	0.87932	D	0	.	16.2834	0.82708	0.0:1.0:0.0:0.0	.	519	Q9UN66	PCDB8_HUMAN	W	519	ENSP00000239444:S519W	ENSP00000239444:S519W	S	+	2	0	PCDHB8	140539355	0.544000	0.26441	0.160000	0.22671	0.174000	0.22865	5.765000	0.68834	1.915000	0.55452	0.298000	0.19748	TCG		0.687	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		G	140559171	C	G	140559171	3	3	803	1	0	0	0	0	1	0	0	0	11550	893	31	4	1558	4	PCDHB8	5	140559171	Missense_Mutation	SNP	C	TCGA-UZ-A9PO-01A-11D-A382-10	44428347	140559171	40356089	30	47863											
PCDHGA3	56112	hgsc.bcm.edu	37	5	140725344	140725344	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr5:140725344G>A	ENST00000253812.6	+	1	1744	c.1744G>A	c.(1744-1746)Gca>Aca	p.A582T	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	582	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)			GCCTCGCTCCGCAGAGCCCGG	0.682																																																0													77	86	83					5																	140725344		2203	4299	6502	SO:0001583	missense	56112			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.1744G>A	chr5.hg19:g.140725344G>A	ENSP00000253812:p.Ala582Thr		Q9Y5D4	Missense_Mutation	SNP	ENST00000253812.6	hg19	CCDS47290.1	.	.	.	.	.	.	.	.	.	.	.	19.07	3.754999	0.69648	.	.	ENSG00000254245	ENST00000253812	T	0.55413	0.52	5.27	5.27	0.74061	Cadherin (3);Cadherin-like (1);	0.000000	0.33005	U	0.005383	T	0.62612	0.2442	M	0.71036	2.16	0.31719	N	0.638499	P;D	0.60160	0.955;0.987	P;P	0.53224	0.538;0.721	T	0.71955	-0.4436	10	0.66056	D	0.02	.	12.3063	0.54904	0.0:0.0:0.7209:0.2791	.	582;582	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	T	582	ENSP00000253812:A582T	ENSP00000253812:A582T	A	+	1	0	PCDHGA3	140705528	0.934000	0.31675	0.999000	0.59377	0.968000	0.65278	1.731000	0.38135	2.636000	0.89361	0.558000	0.71614	GCA		0.682	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		A	140725344	G	A	140725344	3	1	803	1	0	0	0	0	1	0	0	0	11557	1087	38	1	1746	1	PCDHGA3	5	140725344	Missense_Mutation	SNP	G	TCGA-UZ-A9PO-01A-11D-A382-10	166173	140725344	40189916	31	47864											
PCDHGB5	56102	hgsc.bcm.edu	37	5	140777735	140777740	+	Intron	DEL	TGCCAG	TGCCAG	-			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	TGCCAG	TGCCAG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr5:140777735_140777740delTGCCAG	ENST00000576222.1	+	1	2546				PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3						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)			GCTGAGAGGCTGCCAGTGCTCTTTCT	0.612											OREG0016860	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0																																										SO:0001627	intron_variant	56101			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.2415+25359TGCCAG>-	chr5.hg19:g.140777735_140777740delTGCCAG		1659	A7E229|Q9Y5C7	In_Frame_Del	DEL	ENST00000576222.1	hg19	CCDS58980.1																																																																																				0.612	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		-	140777740	TGCCAG	-	140777735	6	5	803	0	1	1	0	1	0	0	0	0	11568	1580	55	0		0	PCDHGB5	5	140777735	Intron	DEL	TGCCAG	TCGA-UZ-A9PO-01A-11D-A382-10	52391	140777735	40137525	32	47865											
MXD3	83463	hgsc.bcm.edu	37	5	176734952	176734952	+	Missense_Mutation	SNP	T	T	C			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr5:176734952T>C	ENST00000439742.2	-	5	813	c.335A>G	c.(334-336)cAg>cGg	p.Q112R	MXD3_ENST00000427908.2_Missense_Mutation_p.Q112R|MXD3_ENST00000513063.1_Missense_Mutation_p.Q112R|MXD3_ENST00000423571.2_Missense_Mutation_p.Q112R	NM_031300.3	NP_112590.1	Q9BW11	MAD3_HUMAN	MAX dimerization protein 3	112					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)					all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	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)			CCGCTGCTCCTGATCCTCCAG	0.711																																																0													5	5	5					5																	176734952		2039	4057	6096	SO:0001583	missense	83463			BC000745	CCDS4416.1, CCDS47347.1	5q35.3	2013-03-20			ENSG00000213347	ENSG00000213347		"MAX dimerization proteins", "Basic helix-loop-helix proteins"	14008	protein-coding gene	gene with protein product		609450					Standard	NM_031300		Approved	MAD3, bHLHc13	uc003mgb.2	Q9BW11	OTTHUMG00000130854	ENST00000439742.2:c.335A>G	chr5.hg19:g.176734952T>C	ENSP00000401867:p.Gln112Arg		B4E0J1|Q53HK1|Q7Z4Y0|Q8NDJ7|Q96ME3	Missense_Mutation	SNP	ENST00000439742.2	hg19	CCDS4416.1	.	.	.	.	.	.	.	.	.	.	T	19.07	3.756279	0.69648	.	.	ENSG00000213347	ENST00000427908;ENST00000423571;ENST00000439742;ENST00000303165;ENST00000513063;ENST00000513169;ENST00000502529	D;D;D;D;T;T	0.88431	-2.38;-2.38;-2.38;-2.38;0.86;0.86	5.0	5.0	0.66597	Helix-loop-helix DNA-binding (3);	0.000000	0.85682	D	0.000000	D	0.92990	0.7769	M	0.68593	2.085	0.58432	D	0.999999	D;D;D;D	0.71674	0.992;0.998;0.997;0.979	D;D;D;P	0.80764	0.979;0.994;0.986;0.867	D	0.91821	0.5467	10	0.30078	T	0.28	-0.4458	15.0117	0.71555	0.0:0.0:0.0:1.0	.	112;103;112;112	Q9BW11-3;F8W9D2;Q9BW11;B4E0J1	.;.;MAD3_HUMAN;.	R	112;112;112;103;112;29;102	ENSP00000416921:Q112R;ENSP00000389716:Q112R;ENSP00000401867:Q112R;ENSP00000421463:Q112R;ENSP00000427104:Q29R;ENSP00000425029:Q102R	ENSP00000307720:Q103R	Q	-	2	0	MXD3	176667558	1.000000	0.71417	1.000000	0.80357	0.755000	0.42902	4.827000	0.62723	2.007000	0.58848	0.459000	0.35465	CAG		0.711	MXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253427.1			C	176734952	T	C	176734952	3	2	803	1	0	0	0	0	1	0	0	0	10002	1580	55	3	374	3	MXD3	5	176734952	Missense_Mutation	SNP	T	TCGA-UZ-A9PO-01A-11D-A382-10	35957217	176734952	4180308	33	47866											
BRD2	6046	hgsc.bcm.edu	37	6	32942389	32942389	+	Missense_Mutation	SNP	C	C	A	rs562023725		TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr6:32942389C>A	ENST00000374825.4	+	3	1881	c.180C>A	c.(178-180)aaC>aaA	p.N60K	BRD2_ENST00000374831.4_Missense_Mutation_p.N60K|BRD2_ENST00000449085.2_Missense_Mutation_p.N13K|BRD2_ENST00000395289.2_Missense_Mutation_p.N60K|BRD2_ENST00000443797.2_5'UTR|BRD2_ENST00000395287.1_Missense_Mutation_p.N60K|XXbac-BPG181M17.6_ENST00000580587.1_RNA	NM_005104.3	NP_005095.1	P25440	BRD2_HUMAN	bromodomain containing 2	60					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						CCCCTGCCAACCCACCACCCC	0.537																																																0													79	76	77					6																	32942389		2203	4300	6503	SO:0001583	missense	6046			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.180C>A	chr6.hg19:g.32942389C>A	ENSP00000363958:p.Asn60Lys		A2AAU0|B0S7P0|B1AZT1|O00699|O00700|Q15310|Q5STC9|Q63HQ9|Q658Y7|Q6P3U2|Q969U4	Missense_Mutation	SNP	ENST00000374825.4	hg19	CCDS4762.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.33|15.33	2.800419|2.800419	0.50315|0.50315	.|.	.|.	ENSG00000204256|ENSG00000204256	ENST00000374825;ENST00000374831;ENST00000395289;ENST00000395287;ENST00000449085|ENST00000456339;ENST00000449025	T;T;T;T;T|.	0.18174|.	2.23;2.23;2.23;2.23;2.23|.	5.36|5.36	0.465|0.465	0.16711|0.16711	Bromodomain (1);|.	0.000000|.	0.51477|.	D|.	0.000084|.	T|T	0.58821|0.58821	0.2149|0.2149	M|M	0.78344|0.78344	2.41|2.41	0.80722|0.80722	D|D	1|1	P;D|.	0.53885|.	0.828;0.963|.	B;B|.	0.44224|.	0.3;0.444|.	T|T	0.60495|0.60495	-0.7252|-0.7252	10|5	0.19590|.	T|.	0.45|.	-24.1895|-24.1895	9.5375|9.5375	0.39231|0.39231	0.0:0.6248:0.0:0.3752|0.0:0.6248:0.0:0.3752	.|.	60;60|.	A2AAU0;P25440|.	.;BRD2_HUMAN|.	K|N	60;60;60;60;13|62;66	ENSP00000363958:N60K;ENSP00000363964:N60K;ENSP00000378704:N60K;ENSP00000378702:N60K;ENSP00000409145:N13K|.	ENSP00000363958:N60K|.	N|T	+|+	3|2	2|0	BRD2|BRD2	33050367|33050367	0.920000|0.920000	0.31207|0.31207	0.999000|0.999000	0.59377|0.59377	0.933000|0.933000	0.57130|0.57130	0.060000|0.060000	0.14342|0.14342	0.108000|0.108000	0.17862|0.17862	0.643000|0.643000	0.83706|0.83706	AAC|ACC		0.537	BRD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076503.2			A	32942389	C	A	32942389	3	1	803	1	0	0	0	0	1	0	0	0	1504	506	18	4	186	4	BRD2	6	32942389	Missense_Mutation	SNP	C	TCGA-UZ-A9PO-01A-11D-A382-10		32942389	138172678	34	47867											
AARS2	57505	hgsc.bcm.edu	37	6	44279883	44279883	+	Missense_Mutation	SNP	C	C	T			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr6:44279883C>T	ENST00000244571.4	-	2	363	c.361G>A	c.(361-363)Gtg>Atg	p.V121M	RP11-444E17.6_ENST00000505802.1_Intron	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial									p.V121M(1)		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)			TCTCGACCCACATCTTCCAGG	0.527																																																1	Substitution - Missense(1)	prostate(1)											190	150	163					6																	44279883		2203	4300	6503	SO:0001583	missense	57505			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.361G>A	chr6.hg19:g.44279883C>T	ENSP00000244571:p.Val121Met			Missense_Mutation	SNP	ENST00000244571.4	hg19	CCDS34464.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.815634	0.90790	.	.	ENSG00000124608	ENST00000244571	D	0.84944	-1.92	4.9	4.9	0.64082	Alanyl-tRNA synthetase, class IIc, core domain (1);Alanyl-tRNA synthetase, class IIc, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95554	0.8555	H	0.98407	4.225	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97295	0.9927	10	0.87932	D	0	-19.9207	18.2752	0.90080	0.0:1.0:0.0:0.0	.	121	Q5JTZ9	SYAM_HUMAN	M	121	ENSP00000244571:V121M	ENSP00000244571:V121M	V	-	1	0	AARS2	44387861	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.651000	0.83577	2.540000	0.85666	0.436000	0.28706	GTG		0.527	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040741.2	NM_020745		T	44279883	C	T	44279883	3	4	803	1	0	0	0	0	1	0	0	0	20	478	17	2	2680	2	AARS2	6	44279883	Missense_Mutation	SNP	C	TCGA-UZ-A9PO-01A-11D-A382-10	11337494	44279883	126835184	35	47868											
CDK19	23097	hgsc.bcm.edu	37	6	110943359	110943359	+	Missense_Mutation	SNP	C	C	T			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr6:110943359C>T	ENST00000368911.3	-	11	1221	c.1042G>A	c.(1042-1044)Ggc>Agc	p.G348S	CDK19_ENST00000413605.2_Missense_Mutation_p.G224S|CDK19_ENST00000323817.3_Missense_Mutation_p.G288S	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN	cyclin-dependent kinase 19	348							ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.G348C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						ATCTGGCAGCCGGCAAATACA	0.313																																																1	Substitution - Missense(1)	lung(1)											138	144	142					6																	110943359		2203	4300	6503	SO:0001583	missense	23097			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.1042G>A	chr6.hg19:g.110943359C>T	ENSP00000357907:p.Gly348Ser		Q5JQZ7|Q5JR00|Q8TC78|Q9UPX2	Missense_Mutation	SNP	ENST00000368911.3	hg19	CCDS5085.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.068014	0.76301	.	.	ENSG00000155111	ENST00000368911;ENST00000323817;ENST00000392576;ENST00000413605	T;T;T	0.62639	0.11;0.01;0.41	5.56	5.56	0.83823	Protein kinase-like domain (1);	0.090722	0.85682	D	0.000000	T	0.53433	0.1796	M	0.75615	2.305	0.80722	D	1	B;B	0.33073	0.396;0.343	B;B	0.25614	0.042;0.062	T	0.59899	-0.7367	10	0.51188	T	0.08	-18.5719	19.8942	0.96945	0.0:1.0:0.0:0.0	.	224;348	B4DUB1;Q9BWU1	.;CDK19_HUMAN	S	348;288;287;224	ENSP00000357907:G348S;ENSP00000317665:G288S;ENSP00000410604:G224S	ENSP00000317665:G288S	G	-	1	0	CDK19	111050052	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.367000	0.79558	2.778000	0.95560	0.557000	0.71058	GGC		0.313	CDK19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041804.1	NM_015076		T	110943359	C	T	110943359	3	4	803	1	0	0	0	0	1	0	0	0	3137	652	23	1	478	1	CDK19	6	110943359	Missense_Mutation	SNP	C	TCGA-UZ-A9PO-01A-11D-A382-10	66663476	110943359	60171708	36	47869											
UPP1	7378	hgsc.bcm.edu	37	7	48146603	48146603	+	Silent	SNP	G	G	C	rs567267997		TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr7:48146603G>C	ENST00000331803.4	+	8	1193	c.570G>C	c.(568-570)ctG>ctC	p.L190L	UPP1_ENST00000482015.1_3'UTR|UPP1_ENST00000395564.4_Silent_p.L190L|UPP1_ENST00000429491.2_Silent_p.L53L|UPP1_ENST00000341253.4_Silent_p.L190L			Q16831	UPP1_HUMAN	uridine phosphorylase 1	190					cellular response to glucose starvation (GO:0042149)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide catabolic process (GO:0009166)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)|uridine metabolic process (GO:0046108)	cytosol (GO:0005829)	uridine phosphorylase activity (GO:0004850)			breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18					Fluorouracil(DB00544)	TGCAGGAGCTGTTGCTGTGTT	0.552													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21337	0.0		0.0	False		,,,				2504	0.0															0													128	117	121					7																	48146603		2203	4300	6503	SO:0001819	synonymous_variant	7378			AK096167	CCDS5507.1	7p12.3	2012-10-02	2003-08-28	2003-08-29	ENSG00000183696	ENSG00000183696	2.4.2.3		12576	protein-coding gene	gene with protein product		191730	"uridine phosphorylase"	UP		752472, 11807789	Standard	NM_003364		Approved	UPASE, UPP, UDRPASE	uc003toj.3	Q16831	OTTHUMG00000129253	ENST00000331803.4:c.570G>C	chr7.hg19:g.48146603G>C			D3DVM4|Q15362	Silent	SNP	ENST00000331803.4	hg19	CCDS5507.1																																																																																				0.552	UPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251360.1	NM_003364		C	48146603	G	C	48146603	2	2	803	1	0	0	0	0	0	0	0	1	17017	1364	48	4		4	UPP1	7	48146603	Silent	SNP	G	TCGA-UZ-A9PO-01A-11D-A382-10		48146603	110992060	37	47870											
UPK3B	80761	hgsc.bcm.edu	37	7	76140096	76140096	+	Missense_Mutation	SNP	G	G	T			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr7:76140096G>T	ENST00000257632.5	+	1	255	c.127G>T	c.(127-129)Ggg>Tgg	p.G43W	UPK3B_ENST00000419923.2_Missense_Mutation_p.G43W|UPK3B_ENST00000334348.3_Intron|UPK3B_ENST00000394849.1_Intron|UPK3B_ENST00000443097.2_Intron|UPK3B_ENST00000448265.3_Missense_Mutation_p.G43W			Q9BT76	UPK3B_HUMAN	uroplakin 3B	43					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)				CCAGACCCAAGGGGCTGGGGG	0.706																																																0													13	16	15					7																	76140096		2196	4298	6494	SO:0001583	missense	80761			BC004304	CCDS5588.1, CCDS5589.1, CCDS64693.1	7q11.2	2003-07-29			ENSG00000243566	ENSG00000243566			21444	protein-coding gene	gene with protein product	"uroplakin IIIb"	611887				12446744	Standard	XM_005250612		Approved	MGC10902, p35, UPIIIb, FLJ32198	uc003ufq.3	Q9BT76	OTTHUMG00000149929	ENST00000257632.5:c.127G>T	chr7.hg19:g.76140096G>T	ENSP00000257632:p.Gly43Trp		A6NHH5|A8K231|A8MZA8|B3KPU5|Q75MM5|Q86W06	Missense_Mutation	SNP	ENST00000257632.5	hg19	CCDS5588.1	.	.	.	.	.	.	.	.	.	.	.	19.45	3.829710	0.71258	.	.	ENSG00000243566	ENST00000419923;ENST00000448265;ENST00000257632	T;T;T	0.44482	0.92;0.92;0.92	4.3	0.385	0.16249	.	.	.	.	.	T	0.38931	0.1059	N	0.08118	0	0.09310	N	0.999999	D	0.89917	1.0	D	0.78314	0.991	T	0.27400	-1.0075	9	0.87932	D	0	-1.0315	7.1484	0.25595	0.4081:0.0:0.5919:0.0	.	43	Q9BT76	UPK3B_HUMAN	W	43	ENSP00000441602:G43W;ENSP00000441284:G43W;ENSP00000257632:G43W	ENSP00000257632:G43W	G	+	1	0	UPK3B	75978032	0.005000	0.15991	0.002000	0.10522	0.697000	0.40408	-0.267000	0.08619	0.167000	0.19631	0.407000	0.27541	GGG		0.706	UPK3B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313978.2	NM_030570		T	76140096	G	T	76140096	3	4	803	1	0	0	0	0	1	0	0	0	17016	1000	35	4	129	4	UPK3B	7	76140096	Missense_Mutation	SNP	G	TCGA-UZ-A9PO-01A-11D-A382-10	27993493	76140096	82998567	38	47871											
CSMD1	64478	hgsc.bcm.edu	37	8	3046428	3046428	+	Missense_Mutation	SNP	G	G	A	rs374772217		TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr8:3046428G>A	ENST00000520002.1	-	36	6062	c.5507C>T	c.(5506-5508)aCg>aTg	p.T1836M	CSMD1_ENST00000539096.1_Missense_Mutation_p.T1835M|CSMD1_ENST00000542608.1_Missense_Mutation_p.T1835M|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000537824.1_Missense_Mutation_p.T1835M|CSMD1_ENST00000602723.1_Missense_Mutation_p.T1836M|CSMD1_ENST00000602557.1_Missense_Mutation_p.T1836M|CSMD1_ENST00000400186.3_Missense_Mutation_p.T1836M			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1836	CUB 11. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CGAGCCCTCCGTAACTATGAT	0.483																																																0													59	56	57					8																	3046428		1884	4103	5987	SO:0001583	missense	64478					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.5507C>T	chr8.hg19:g.3046428G>A	ENSP00000430733:p.Thr1836Met		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	hg19		.	.	.	.	.	.	.	.	.	.	G	11.59	1.683295	0.29872	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.60548	0.18;0.18;0.18;0.18;0.18	5.53	5.53	0.82687	CUB (5);	0.136796	0.49305	D	0.000155	T	0.69708	0.3141	L	0.46614	1.455	0.09310	N	0.999999	D;B;D	0.61697	0.99;0.133;0.976	P;B;P	0.61397	0.888;0.425;0.888	T	0.64428	-0.6410	10	0.66056	D	0.02	.	19.4679	0.94950	0.0:0.0:1.0:0.0	.	1836;1836;1836	E5RIG2;Q96PZ7;Q96PZ7-4	.;CSMD1_HUMAN;.	M	1836;1836;1698;1835;1835;1835	ENSP00000383047:T1836M;ENSP00000430733:T1836M;ENSP00000441462:T1835M;ENSP00000446243:T1835M;ENSP00000441675:T1835M	ENSP00000320445:T1698M	T	-	2	0	CSMD1	3033835	1.000000	0.71417	0.006000	0.13384	0.054000	0.15201	5.984000	0.70548	2.582000	0.87167	0.637000	0.83480	ACG		0.483	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		A	3046428	G	A	3046428	3	1	803	1	0	0	0	0	1	0	0	0	3946	1145	40	1	5334	1	CSMD1	8	3046428	Missense_Mutation	SNP	G	TCGA-UZ-A9PO-01A-11D-A382-10		3046428	143317594	39	47872											
BHLHE22	27319	hgsc.bcm.edu	37	8	65494023	65494023	+	Missense_Mutation	SNP	A	A	G	rs62519837		TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr8:65494023A>G	ENST00000321870.1	+	1	1210	c.676A>G	c.(676-678)Agc>Ggc	p.S226G	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	226	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						cagcggcggcagcagcagcag	0.706																																					Colon(113;104 1586 2865 9855 18065)											2	Substitution - Missense(1)|Deletion - In frame(1)	central_nervous_system(1)|skin(1)											3	4	4					8																	65494023		1652	3428	5080	SO:0001583	missense	27319			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.676A>G	chr8.hg19:g.65494023A>G	ENSP00000318799:p.Ser226Gly			Missense_Mutation	SNP	ENST00000321870.1	hg19	CCDS6179.1	.	.	.	.	.	.	.	.	.	.	A	0.001	-3.714868	0.00005	.	.	ENSG00000180828	ENST00000321870	T	0.80033	-1.33	0.79	-1.26	0.09376	.	.	.	.	.	T	0.48642	0.1511	N	0.00926	-1.1	0.09310	N	1	B	0.26041	0.14	B	0.32805	0.153	T	0.47368	-0.9123	9	0.15499	T	0.54	.	3.5404	0.07809	0.3747:0.0:0.6253:0.0	rs62519837	226	Q8NFJ8	BHE22_HUMAN	G	226	ENSP00000318799:S226G	ENSP00000318799:S226G	S	+	1	0	BHLHE22	65656577	0.273000	0.24181	0.215000	0.23724	0.107000	0.19398	-0.535000	0.06142	-0.333000	0.08476	0.136000	0.15936	AGC		0.706	BHLHE22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378549.1	NM_152414		G	65494023	A	G	65494023	3	3	803	1	0	0	0	0	1	0	0	0	1421	188	7	3	678	3	BHLHE22	8	65494023	Missense_Mutation	SNP	A	TCGA-UZ-A9PO-01A-11D-A382-10	62447595	65494023	80869999	40	47873											
RECK	8434	hgsc.bcm.edu	37	9	36058855	36058855	+	Missense_Mutation	SNP	A	A	T			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr9:36058855A>T	ENST00000377966.3	+	3	757	c.191A>T	c.(190-192)aAa>aTa	p.K64I	RECK_ENST00000479053.1_3'UTR	NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	64	5 X Knot repeats.				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)			TCCCGACTAAAACATCTGTTG	0.328																																																0													73	76	75					9																	36058855		2203	4300	6503	SO:0001583	missense	8434			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.191A>T	chr9.hg19:g.36058855A>T	ENSP00000367202:p.Lys64Ile		B2RNS1|Q5W0K6|Q8WX37	Missense_Mutation	SNP	ENST00000377966.3	hg19	CCDS6597.1	.	.	.	.	.	.	.	.	.	.	A	15.70	2.911043	0.52439	.	.	ENSG00000122707	ENST00000377966	T	0.47528	0.84	5.75	4.41	0.53225	.	0.053124	0.64402	D	0.000001	T	0.40040	0.1101	N	0.14661	0.345	0.38896	D	0.957211	P;P;P	0.52316	0.952;0.61;0.911	P;B;P	0.52267	0.694;0.265;0.653	T	0.45041	-0.9288	10	0.66056	D	0.02	-20.6618	10.0337	0.42116	0.9083:0.0:0.0917:0.0	.	64;64;64	B2RCE6;O95980;Q6P9E2	.;RECK_HUMAN;.	I	64	ENSP00000367202:K64I	ENSP00000367202:K64I	K	+	2	0	RECK	36048855	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.883000	0.56168	2.196000	0.70406	0.402000	0.26972	AAA		0.328	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052409.1			T	36058855	A	T	36058855	3	4	803	1	0	0	0	0	1	0	0	0	13206	14	1	5	201	5	RECK	9	36058855	Missense_Mutation	SNP	A	TCGA-UZ-A9PO-01A-11D-A382-10		36058855	105154576	41	47874											
DOLK	22845	hgsc.bcm.edu	37	9	131709023	131709023	+	Missense_Mutation	SNP	C	C	T	rs377658203		TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr9:131709023C>T	ENST00000372586.3	-	1	875	c.560G>A	c.(559-561)cGc>cAc	p.R187H	RP11-101E3.5_ENST00000482796.1_Intron|NUP188_ENST00000372577.2_5'Flank	NM_014908.3	NP_055723.1	Q9UPQ8	DOLK_HUMAN	dolichol kinase	187					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|dolichyl monophosphate biosynthetic process (GO:0043048)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	dolichol kinase activity (GO:0004168)	p.R187H(1)		breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						GGTGAAGCAGCGGGGCAGCAG	0.542																																																1	Substitution - Missense(1)	large_intestine(1)											83	81	82					9																	131709023		2203	4300	6503	SO:0001583	missense	22845			AB029017	CCDS6915.1	9q34.13	2014-09-17	2007-02-09	2007-02-09	ENSG00000175283	ENSG00000175283			23406	protein-coding gene	gene with protein product	"dolichol kinase 1"	610746	"transmembrane protein 15"	TMEM15		12975309, 16923818	Standard	NM_014908		Approved	KIAA1094, DK1	uc004bwr.3	Q9UPQ8	OTTHUMG00000020765	ENST00000372586.3:c.560G>A	chr9.hg19:g.131709023C>T	ENSP00000361667:p.Arg187His		Q5SRE6	Missense_Mutation	SNP	ENST00000372586.3	hg19	CCDS6915.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.375916	0.82682	.	.	ENSG00000175283	ENST00000372586;ENST00000515348	D	0.90620	-2.7	5.07	5.07	0.68467	.	0.000000	0.64402	D	0.000005	D	0.94430	0.8208	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.93720	0.7032	10	0.38643	T	0.18	-0.0738	17.4448	0.87575	0.0:1.0:0.0:0.0	.	187	Q9UPQ8	DOLK_HUMAN	H	187	ENSP00000361667:R187H	ENSP00000361667:R187H	R	-	2	0	DOLK	130748844	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.487000	0.81328	2.327000	0.79052	0.462000	0.41574	CGC		0.542	DOLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054515.1	NM_014908		T	131709023	C	T	131709023	3	4	803	1	0	0	0	0	1	0	0	0	4705	768	27	1	1060	1	DOLK	9	131709023	Missense_Mutation	SNP	C	TCGA-UZ-A9PO-01A-11D-A382-10	95650168	131709023	9504408	42	47875											
GTF3C4	9329	hgsc.bcm.edu	37	9	135546223	135546223	+	Missense_Mutation	SNP	G	G	C			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr9:135546223G>C	ENST00000372146.4	+	1	802	c.238G>C	c.(238-240)Gtg>Ctg	p.V80L	DDX31_ENST00000372153.1_5'Flank|DDX31_ENST00000544003.1_5'Flank|DDX31_ENST00000480876.1_5'Flank|DDX31_ENST00000372159.3_5'Flank|DDX31_ENST00000310532.2_5'Flank|GTF3C4_ENST00000483873.2_Missense_Mutation_p.V80L	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	80					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)		CCGCGTGTCTGTGTCCACGGC	0.677																																					Pancreas(142;417 1875 11086 31973 47667)											0													23	26	25					9																	135546223		2200	4297	6497	SO:0001583	missense	9329			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.238G>C	chr9.hg19:g.135546223G>C	ENSP00000361219:p.Val80Leu		Q5VZJ7	Missense_Mutation	SNP	ENST00000372146.4	hg19	CCDS6953.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.963035	0.74016	.	.	ENSG00000125484	ENST00000372146	T	0.59906	0.23	3.64	3.64	0.41730	Transcription factor IIIC, 90kDa subunit, N-terminal (1);	0.081587	0.48286	D	0.000197	T	0.49098	0.1537	N	0.14661	0.345	0.39940	D	0.974402	P	0.47034	0.889	P	0.48704	0.587	T	0.60944	-0.7162	10	0.72032	D	0.01	-8.035	14.8255	0.70107	0.0:0.0:1.0:0.0	.	80	Q9UKN8	TF3C4_HUMAN	L	80	ENSP00000361219:V80L	ENSP00000361219:V80L	V	+	1	0	GTF3C4	134536044	1.000000	0.71417	0.931000	0.37212	0.159000	0.22180	7.975000	0.88055	2.011000	0.59026	0.455000	0.32223	GTG		0.677	GTF3C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054792.1			C	135546223	G	C	135546223	3	2	803	1	0	0	0	0	1	0	0	0	6877	1377	48	4	240	4	GTF3C4	9	135546223	Missense_Mutation	SNP	G	TCGA-UZ-A9PO-01A-11D-A382-10	3837200	135546223	5667208	43	47876											
ANXA7	310	hgsc.bcm.edu	37	10	75147485	75147485	+	Missense_Mutation	SNP	G	G	T			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr10:75147485G>T	ENST00000372921.5	-	7	651	c.595C>A	c.(595-597)Caa>Aaa	p.Q199K	ANXA7_ENST00000492380.1_5'UTR|ANXA7_ENST00000535178.1_Missense_Mutation_p.Q69K	NM_001156.3	NP_001147.1	P20073	ANXA7_HUMAN	annexin A7	221					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)					TTAATTTTTTGCCTCTGATCA	0.448																																																0													230	217	221					10																	75147485		2203	4300	6503	SO:0001583	missense	310			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.595C>A	chr10.hg19:g.75147485G>T	ENSP00000362012:p.Gln199Lys		Q5F2H3|Q5T0M6|Q5T0M7	Missense_Mutation	SNP	ENST00000372921.5	hg19	CCDS7325.1	.	.	.	.	.	.	.	.	.	.	G	32	5.149064	0.94645	.	.	ENSG00000138279	ENST00000372921;ENST00000372919;ENST00000535178	T;T;T	0.03580	3.88;3.88;3.88	5.96	5.96	0.96718	Annexin repeat, conserved site (1);	0.000000	0.64402	D	0.000001	T	0.11750	0.0286	L	0.44542	1.39	0.58432	D	0.999999	D;D;D;D;D	0.64830	0.966;0.994;0.977;0.977;0.981	P;P;P;P;P	0.59357	0.66;0.856;0.696;0.529;0.76	T	0.00142	-1.1997	10	0.66056	D	0.02	.	17.913	0.88940	0.0:0.0:1.0:0.0	.	199;199;126;199;221	Q53HM8;B2R7L2;B4DWU2;P20073-2;P20073	.;.;.;.;ANXA7_HUMAN	K	199;221;69	ENSP00000362012:Q199K;ENSP00000362010:Q221K;ENSP00000442864:Q69K	ENSP00000362010:Q221K	Q	-	1	0	ANXA7	74817491	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.569000	0.82380	2.831000	0.97527	0.650000	0.86243	CAA		0.448	ANXA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048646.2	NM_001156		T	75147485	G	T	75147485	3	4	803	1	0	0	0	0	1	0	0	0	723	1328	46	4	833	4	ANXA7	10	75147485	Missense_Mutation	SNP	G	TCGA-UZ-A9PO-01A-11D-A382-10		75147485	60387262	44	47877											
HSPA12A	259217	hgsc.bcm.edu	37	10	118434763	118434763	+	Silent	SNP	G	G	A			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr10:118434763G>A	ENST00000369209.3	-	12	1661	c.1557C>T	c.(1555-1557)gtC>gtT	p.V519V	RP11-498B4.5_ENST00000433600.1_RNA	NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	519						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		GGCCAAAGAGGACGGCACCCT	0.682																																																0													38	44	42					10																	118434763		2045	4187	6232	SO:0001819	synonymous_variant	259217			AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"Heat shock proteins / HSP70"	19022	protein-coding gene	gene with protein product		610701	"heat shock 70kD protein 12A"			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.1557C>T	chr10.hg19:g.118434763G>A				Silent	SNP	ENST00000369209.3	hg19	CCDS41569.1																																																																																				0.682	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050530.1	NM_025015		A	118434763	G	A	118434763	2	1	803	1	0	0	0	0	0	0	0	1	7406	1161	41	2		2	HSPA12A	10	118434763	Silent	SNP	G	TCGA-UZ-A9PO-01A-11D-A382-10	43287278	118434763	17099984	45	47878											
TRPM5	10078	hgsc.bcm.edu	37	11	2427988	2427988	+	IGR	SNP	C	C	T			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr11:2427988C>T	ENST00000333256.6	+	0	1686				TRPM5_ENST00000452833.1_Missense_Mutation_p.V1054I|TRPM5_ENST00000528453.1_Missense_Mutation_p.V1052I|AC124057.5_ENST00000433035.1_RNA|TRPM5_ENST00000155858.6_Missense_Mutation_p.V1052I|TRPM5_ENST00000533060.1_Missense_Mutation_p.V1052I			Q9Y5U2	TSSC4_HUMAN	tumor suppressing subtransferable candidate 4											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)		TCCCAGGTGACGACCTTCTGG	0.622																																																0													79	77	77					11																	2427988		2202	4299	6501	SO:0001628	intergenic_variant	29850			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		chr11.hg19:g.2427988C>T			C9JS66|Q86VL2|Q9BRS6	Missense_Mutation	SNP	ENST00000333256.6	hg19	CCDS7735.1	.	.	.	.	.	.	.	.	.	.	c	0.390	-0.923796	0.02377	.	.	ENSG00000070985	ENST00000533881;ENST00000155858;ENST00000452833;ENST00000533060;ENST00000528453	T;T;T;T;T	0.60797	0.33;0.27;0.27;0.16;0.27	3.96	0.932	0.19466	.	0.266195	0.35124	N	0.003423	T	0.30070	0.0753	N	0.12182	0.205	0.09310	N	0.999991	B;B;B	0.12013	0.005;0.005;0.005	B;B;B	0.12837	0.006;0.006;0.008	T	0.07731	-1.0757	10	0.25106	T	0.35	-23.707	3.527	0.07762	0.0:0.4529:0.196:0.3511	.	1052;1054;1052	E9PRW0;Q9NZQ8-2;Q9NZQ8	.;.;TRPM5_HUMAN	I	1046;1052;1054;1052;1052	ENSP00000434383:V1046I;ENSP00000155858:V1052I;ENSP00000387965:V1054I;ENSP00000434121:V1052I;ENSP00000436809:V1052I	ENSP00000155858:V1052I	V	-	1	0	TRPM5	2384564	0.134000	0.22483	0.788000	0.31933	0.012000	0.07955	0.380000	0.20602	0.271000	0.22005	-0.215000	0.12644	GTC		0.622	TSSC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027369.3	NM_005706		T	2427988	C	T	2427988	1	4	803	0	1	0	0	0	0	0	0	0	16594	536	19	1		1	TRPM5	11	2427988	IGR	SNP	C	TCGA-UZ-A9PO-01A-11D-A382-10		2427988	132578528	46	47879											
SMPD1	6609	hgsc.bcm.edu	37	11	6411941	6411941	+	Missense_Mutation	SNP	C	C	T	rs550365194|rs550067660|rs71467507|rs78250081|rs558809956|rs3838786	byFrequency	TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr11:6411941C>T	ENST00000342245.4	+	1	281	c.113C>T	c.(112-114)gCg>gTg	p.A38V	SMPD1_ENST00000527275.1_Missense_Mutation_p.A38V|SMPD1_ENST00000533196.1_3'UTR|SMPD1_ENST00000299397.3_Missense_Mutation_p.A38V|SMPD1_ENST00000356761.2_Missense_Mutation_p.A38V	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid lysosomal	38					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)	ctggtgctggcgctggcgctg	0.711																																																0													11	14	13					11																	6411941		2185	4258	6443	SO:0001583	missense	6609			AB209775	CCDS31409.1, CCDS44531.1, CCDS31409.2	11p15.4-p15.1	2010-04-28	2008-02-04		ENSG00000166311	ENSG00000166311	3.1.4.12		11120	protein-coding gene	gene with protein product	"acid sphingomyelinase"	607608				1711683	Standard	NM_000543		Approved	ASM	uc001mcw.3	P17405	OTTHUMG00000165453	ENST00000342245.4:c.113C>T	chr11.hg19:g.6411941C>T	ENSP00000340409:p.Ala38Val		A8K8M3|E9PKS3|P17406|Q13811|Q16837|Q16841	Missense_Mutation	SNP	ENST00000342245.4	hg19	CCDS44531.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.234305	0.39498	.	.	ENSG00000166311	ENST00000299397;ENST00000356761;ENST00000342245;ENST00000527275	T;T;T;T	0.09723	2.95;2.95;2.95;2.95	4.54	-1.08	0.09936	.	.	.	.	.	T	0.04363	0.0120	N	0.08118	0	0.09310	N	1	B;B	0.15473	0.002;0.013	B;B	0.10450	0.002;0.005	T	0.47275	-0.9130	9	0.12103	T	0.63	.	6.8659	0.24093	0.0:0.5614:0.262:0.1766	.	38;38	E9PKS3;G3XAB5	.;.	V	38	ENSP00000299397:A38V;ENSP00000349203:A38V;ENSP00000340409:A38V;ENSP00000435350:A38V	ENSP00000299397:A38V	A	+	2	0	SMPD1	6368517	0.000000	0.05858	0.130000	0.21974	0.033000	0.12548	-2.110000	0.01334	-0.479000	0.06813	-1.305000	0.01319	GCG		0.711	SMPD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384205.1	NM_000543		T	6411941	C	T	6411941	3	4	803	1	0	0	0	0	1	0	0	0	14810	768	27	1	115	1	SMPD1	11	6411941	Missense_Mutation	SNP	C	TCGA-UZ-A9PO-01A-11D-A382-10	3983953	6411941	128594575	47	47880											
KIAA1826	84437	hgsc.bcm.edu	37	11	105880566	105880567	+	Frame_Shift_Ins	INS	-	-	TG			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr11:105880566_105880567insTG	ENST00000301919.4	-	3	2148_2149	c.733_734insCA	c.(733-735)atgfs	p.M245fs	MSANTD4_ENST00000529805.1_5'Flank	NM_032424.1	NP_115800.1	Q8NCY6	MSD4_HUMAN	Myb/SANT-like DNA-binding domain containing 4 with coiled-coils	245						nucleus (GO:0005634)											CTCATGTTCCATGTCTAAATGC	0.465																																																0																																										SO:0001589	frameshift_variant	84437			AB058729	CCDS31663.1	11q22	2012-03-13	2012-03-13	2012-03-13	ENSG00000170903	ENSG00000170903			29383	protein-coding gene	gene with protein product			"KIAA1826"	KIAA1826			Standard	XM_005271697		Approved		uc001piz.3	Q8NCY6	OTTHUMG00000166240	ENST00000301919.4:c.732_733dupCA	chr11.hg19:g.105880567_105880568dupTG	ENSP00000304713:p.Met245fs		Q96JK1|Q96JZ3|Q9H2N4	Frame_Shift_Ins	INS	ENST00000301919.4	hg19	CCDS31663.1																																																																																				0.465	MSANTD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388619.1	NM_032424		TG	105880567	-	TG	105880566	7	5	803	1	0	1	1	0	0	0	0	0	8262	217	8	0	307	0	KIAA1826	11	105880566	Frame_Shift_Ins	INS	-	TCGA-UZ-A9PO-01A-11D-A382-10	99468625	105880566	29125950	48	47881											
KIF5A	3798	hgsc.bcm.edu	37	12	57968953	57968953	+	Silent	SNP	G	G	T			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr12:57968953G>T	ENST00000455537.2	+	16	2077	c.1803G>T	c.(1801-1803)gtG>gtT	p.V601V	KIF5A_ENST00000286452.5_Silent_p.V512V	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	601					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						TCAAGTCTGTGGTCAAGCGGT	0.557																																																0													62	52	55					12																	57968953		2203	4300	6503	SO:0001819	synonymous_variant	3798			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.1803G>T	chr12.hg19:g.57968953G>T			A6H8M5|Q4LE26	Silent	SNP	ENST00000455537.2	hg19	CCDS8945.1																																																																																				0.557	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		T	57968953	G	T	57968953	2	4	803	1	0	0	0	0	0	0	0	1	8307	1335	47	4		4	KIF5A	12	57968953	Silent	SNP	G	TCGA-UZ-A9PO-01A-11D-A382-10		57968953	75882942	49	47882											
DDX54	79039	hgsc.bcm.edu	37	12	113602055	113602055	+	Silent	SNP	C	C	G			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr12:113602055C>G	ENST00000306014.5	-	15	1782	c.1755G>C	c.(1753-1755)ctG>ctC	p.L585L	DDX54_ENST00000549271.1_5'Flank|DDX54_ENST00000314045.7_Silent_p.L585L	NM_024072.3	NP_076977.3	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	585					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						CCTGGCTGCACAGGTCTCGGC	0.642																																																0													39	35	37					12																	113602055		2203	4299	6502	SO:0001819	synonymous_variant	79039			AF144056	CCDS31907.1, CCDS44984.1	12q24.11	2006-01-30				ENSG00000123064		"DEAD-boxes"	20084	protein-coding gene	gene with protein product		611665				12466272	Standard	NM_001111322		Approved	MGC2835, APR-5, DP97	uc001tuq.4	Q8TDD1	OTTHUMG00000169676	ENST00000306014.5:c.1755G>C	chr12.hg19:g.113602055C>G			Q86YT8|Q9BRZ1	Silent	SNP	ENST00000306014.5	hg19	CCDS31907.1																																																																																				0.642	DDX54-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405435.1	NM_024072		G	113602055	C	G	113602055	2	3	803	1	0	0	0	0	0	0	0	1	4374	465	17	4		4	DDX54	12	113602055	Silent	SNP	C	TCGA-UZ-A9PO-01A-11D-A382-10	55633102	113602055	20249840	50	47883											
CCDC64	92558	hgsc.bcm.edu	37	12	120530940	120530940	+	Missense_Mutation	SNP	T	T	C			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr12:120530940T>C	ENST00000397558.2	+	9	1697	c.1697T>C	c.(1696-1698)cTc>cCc	p.L566P	CCDC64_ENST00000257583.4_Missense_Mutation_p.L263P|CCDC64_ENST00000546857.1_3'UTR|CCDC64_ENST00000446727.2_Missense_Mutation_p.L237P	NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	566					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)					GGCAAACGACTCTTCTCATTC	0.612																																																0													27	32	30					12																	120530940		2008	4157	6165	SO:0001583	missense	92558			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.1697T>C	chr12.hg19:g.120530940T>C	ENSP00000380690:p.Leu566Pro		A8MUC8|B4DWL0|B5MDJ0|O95000	Missense_Mutation	SNP	ENST00000397558.2	hg19	CCDS41845.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.199926	0.79015	.	.	ENSG00000135127	ENST00000397558;ENST00000446727;ENST00000548673;ENST00000257583	T;T	0.62364	0.61;0.03	4.9	4.9	0.64082	.	1.075700	0.07390	U	0.888905	T	0.76371	0.3978	L	0.50333	1.59	0.80722	D	1	D;D;D	0.71674	0.993;0.998;0.998	P;D;D	0.69142	0.858;0.962;0.914	T	0.67887	-0.5554	10	0.72032	D	0.01	-0.4316	14.6842	0.69037	0.0:0.0:0.0:1.0	.	263;237;566	B4DWL0;B4DNE7;Q6ZP65	.;.;BICR1_HUMAN	P	566;237;284;263	ENSP00000380690:L566P;ENSP00000399658:L237P	ENSP00000257583:L263P	L	+	2	0	CCDC64	119015323	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.852000	0.69488	2.054000	0.61138	0.459000	0.35465	CTC		0.612	CCDC64-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403390.2	NM_207311		C	120530940	T	C	120530940	3	2	803	1	0	0	0	0	1	0	0	0	2837	1551	54	3	1731	3	CCDC64	12	120530940	Missense_Mutation	SNP	T	TCGA-UZ-A9PO-01A-11D-A382-10	6928885	120530940	13320955	51	47884											
EP400	57634	hgsc.bcm.edu	37	12	132547068	132547068	+	Missense_Mutation	SNP	G	G	A	rs68030464|rs367737531|rs60930033		TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr12:132547068G>A	ENST00000333577.4	+	48	8373	c.8264G>A	c.(8263-8265)aGg>aAg	p.R2755K	EP400_ENST00000389562.2_Missense_Mutation_p.R2718K|EP400_ENST00000332482.4_Missense_Mutation_p.R2682K|EP400_ENST00000330386.6_Missense_Mutation_p.R2638K|EP400_ENST00000389561.2_Missense_Mutation_p.R2719K			Q96L91	EP400_HUMAN	E1A binding protein p400	2755	Interaction with ZNF42. {ECO:0000250}.				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.R2718K(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)		CAGCTTCTCAGgcagcagcag	0.567																																																2	Substitution - Missense(2)	lung(2)											48	48	48					12																	132547068		2203	4300	6503	SO:0001583	missense	57634			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.8264G>A	chr12.hg19:g.132547068G>A	ENSP00000333602:p.Arg2755Lys		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	hg19		.	.	.	.	.	.	.	.	.	.	G	15.46	2.840128	0.51057	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296	D;D;D;D;D	0.90133	-2.62;-2.62;-2.62;-2.62;-2.62	4.89	4.89	0.63831	.	0.266539	0.31542	N	0.007465	D	0.91264	0.7246	L	0.27053	0.805	0.26223	N	0.97913	D;D;D	0.53312	0.959;0.959;0.959	D;D;D	0.65684	0.937;0.937;0.937	D	0.84986	0.0891	10	0.29301	T	0.29	.	17.0403	0.86487	0.0:0.0:1.0:0.0	.	2719;2638;2718	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	K	2755;2719;2718;2682;2638;2719	ENSP00000333602:R2755K;ENSP00000374212:R2719K;ENSP00000374213:R2718K;ENSP00000331737:R2682K;ENSP00000330620:R2638K	ENSP00000330620:R2638K	R	+	2	0	EP400	131113021	1.000000	0.71417	0.878000	0.34440	0.286000	0.27126	5.957000	0.70323	2.236000	0.73375	0.561000	0.74099	AGG		0.567	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		A	132547068	G	A	132547068	3	1	803	1	0	0	0	0	1	0	0	0	5151	1000	35	2	8335	2	EP400	12	132547068	Missense_Mutation	SNP	G	TCGA-UZ-A9PO-01A-11D-A382-10	12016128	132547068	1304827	52	47885											
FRY	10129	hgsc.bcm.edu	37	13	32813948	32813948	+	Missense_Mutation	SNP	A	A	G			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr13:32813948A>G	ENST00000380250.3	+	46	7113	c.6617A>G	c.(6616-6618)aAt>aGt	p.N2206S		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2206						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)		ACGTGGGTCAATGTGGTCTGT	0.408																																																0													93	93	93					13																	32813948		1959	4159	6118	SO:0001583	missense	10129			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"chromosome 13 open reading frame 14"	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.6617A>G	chr13.hg19:g.32813948A>G	ENSP00000369600:p.Asn2206Ser		Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	hg19	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	A	12.39	1.922762	0.33908	.	.	ENSG00000073910	ENST00000380250;ENST00000380257	T	0.20738	2.05	6.07	0.907	0.19321	.	0.127673	0.64402	N	0.000001	T	0.12347	0.0300	L	0.28556	0.865	0.80722	D	1	B	0.23128	0.08	B	0.26864	0.074	T	0.18840	-1.0324	10	0.07482	T	0.82	.	9.8227	0.40891	0.7452:0.0:0.2548:0.0	.	2206	Q5TBA9	FRY_HUMAN	S	2206;1043	ENSP00000369600:N2206S	ENSP00000369600:N2206S	N	+	2	0	FRY	31711948	0.945000	0.32115	0.180000	0.23079	0.989000	0.77384	1.981000	0.40628	-0.046000	0.13446	0.533000	0.62120	AAT		0.408	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		G	32813948	A	G	32813948	3	3	803	1	0	0	0	0	1	0	0	0	6065	101	4	3	6799	3	FRY	13	32813948	Missense_Mutation	SNP	A	TCGA-UZ-A9PO-01A-11D-A382-10		32813948	82355930	53	47886											
UGGT2	55757	hgsc.bcm.edu	37	13	96508522	96508522	+	Missense_Mutation	SNP	G	G	T			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr13:96508522G>T	ENST00000376747.3	-	34	3968	c.3898C>A	c.(3898-3900)Ctt>Att	p.L1300I		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	1300	Glucosyltransferase.				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						TGTTGACGAAGCCAACGGGGC	0.378																																																0													137	143	141					13																	96508522		2203	4300	6503	SO:0001583	missense	55757			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.3898C>A	chr13.hg19:g.96508522G>T	ENSP00000365938:p.Leu1300Ile		A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Missense_Mutation	SNP	ENST00000376747.3	hg19	CCDS9480.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.659435	0.67586	.	.	ENSG00000102595	ENST00000376747	T	0.48201	0.82	5.18	4.33	0.51752	.	0.000000	0.85682	D	0.000000	T	0.74658	0.3745	M	0.92555	3.32	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81180	-0.1050	10	0.87932	D	0	-5.3529	13.4302	0.61051	0.076:0.0:0.924:0.0	.	1300	Q9NYU1	UGGG2_HUMAN	I	1300	ENSP00000365938:L1300I	ENSP00000365938:L1300I	L	-	1	0	UGGT2	95306523	1.000000	0.71417	1.000000	0.80357	0.492000	0.33523	7.654000	0.83653	1.159000	0.42565	0.655000	0.94253	CTT		0.378	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121		T	96508522	G	T	96508522	3	4	803	1	0	0	0	0	1	0	0	0	16947	971	34	4	676	4	UGGT2	13	96508522	Missense_Mutation	SNP	G	TCGA-UZ-A9PO-01A-11D-A382-10	63694574	96508522	18661356	54	47887											
CHD8	57680	hgsc.bcm.edu	37	14	21875030	21875030	+	Silent	SNP	G	G	C			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr14:21875030G>C	ENST00000557364.1	-	14	3155	c.2892C>G	c.(2890-2892)ctC>ctG	p.L964L	CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Silent_p.L685L|CHD8_ENST00000399982.2_Silent_p.L964L			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	964	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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)		CCATGTGCTTGAGACTATCAA	0.428																																																0													82	76	78					14																	21875030		1955	4150	6105	SO:0001819	synonymous_variant	57680			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.2892C>G	chr14.hg19:g.21875030G>C			Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Silent	SNP	ENST00000557364.1	hg19	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	G	7.953	0.745301	0.15710	.	.	ENSG00000100888	ENST00000555935	.	.	.	5.21	-0.0436	0.13859	.	.	.	.	.	T	0.50309	0.1608	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34725	-0.9817	4	.	.	.	-14.3711	4.8051	0.13316	0.0697:0.3534:0.3354:0.2416	.	.	.	.	E	190	.	.	Q	-	1	0	CHD8	20944870	0.870000	0.30015	0.995000	0.50966	0.981000	0.71138	-0.125000	0.10579	-0.171000	0.10797	-0.254000	0.11334	CAA		0.428	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		C	21875030	G	C	21875030	2	2	803	1	0	0	0	0	0	0	0	1	3333	1277	45	4		4	CHD8	14	21875030	Silent	SNP	G	TCGA-UZ-A9PO-01A-11D-A382-10		21875030	85474510	55	47888											
SLC8A3	6547	hgsc.bcm.edu	37	14	70634950	70634950	+	Missense_Mutation	SNP	A	A	T			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr14:70634950A>T	ENST00000381269.2	-	2	943	c.190T>A	c.(190-192)Tac>Aac	p.Y64N	SLC8A3_ENST00000528359.1_Missense_Mutation_p.Y64N|SLC8A3_ENST00000356921.2_Missense_Mutation_p.Y64N|SLC8A3_ENST00000357887.3_Missense_Mutation_p.Y64N|SLC8A3_ENST00000534137.1_Missense_Mutation_p.Y64N	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	64					blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TTCTCCGGGTACCAGATTGGC	0.552																																																0													72	61	65					14																	70634950		2203	4300	6503	SO:0001583	missense	6547			AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"Solute carriers"	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.190T>A	chr14.hg19:g.70634950A>T	ENSP00000370669:p.Tyr64Asn		Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Missense_Mutation	SNP	ENST00000381269.2	hg19	CCDS35498.1	.	.	.	.	.	.	.	.	.	.	A	11.21	1.571033	0.28003	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000534137;ENST00000528359	T;T;T;T;T	0.32988	1.5;1.43;1.57;1.5;1.57	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.39600	0.1084	N	0.26042	0.785	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.995;0.998	D;D;D;D	0.85130	0.997;0.997;0.979;0.986	T	0.10359	-1.0633	10	0.15952	T	0.53	.	14.5806	0.68288	1.0:0.0:0.0:0.0	.	64;64;64;64	P57103-2;P57103;Q96QG2;Q96QG1	.;NAC3_HUMAN;.;.	N	64	ENSP00000349392:Y64N;ENSP00000370669:Y64N;ENSP00000350560:Y64N;ENSP00000436688:Y64N;ENSP00000433531:Y64N	ENSP00000349392:Y64N	Y	-	1	0	SLC8A3	69704703	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.989000	0.63870	2.030000	0.59900	0.460000	0.39030	TAC		0.552	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			T	70634950	A	T	70634950	3	4	803	1	0	0	0	0	1	0	0	0	14714	391	14	5	2732	5	SLC8A3	14	70634950	Missense_Mutation	SNP	A	TCGA-UZ-A9PO-01A-11D-A382-10	48759920	70634950	36714590	56	47889											
TECPR2	9895	hgsc.bcm.edu	37	14	102880977	102880977	+	Missense_Mutation	SNP	T	T	C			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr14:102880977T>C	ENST00000359520.7	+	5	711	c.485T>C	c.(484-486)cTc>cCc	p.L162P	TECPR2_ENST00000558678.1_Missense_Mutation_p.L162P|TECPR2_ENST00000561228.1_3'UTR	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	162					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						TGCCAGGGGCTCTGTAACTCC	0.527																																																0													141	129	133					14																	102880977		2203	4300	6503	SO:0001583	missense	9895			AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"KIAA0329"	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.485T>C	chr14.hg19:g.102880977T>C	ENSP00000352510:p.Leu162Pro		A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Missense_Mutation	SNP	ENST00000359520.7	hg19	CCDS32162.1	.	.	.	.	.	.	.	.	.	.	T	11.18	1.563760	0.27915	.	.	ENSG00000196663	ENST00000359520;ENST00000380088	T	0.22336	1.96	4.89	3.74	0.42951	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.718657	0.12822	N	0.436353	T	0.18841	0.0452	L	0.48642	1.525	0.54753	D	0.99998	B;P;P	0.48998	0.087;0.918;0.836	B;B;B	0.38106	0.091;0.265;0.203	T	0.02093	-1.1215	10	0.66056	D	0.02	.	10.3322	0.43829	0.0:0.0779:0.0:0.9221	.	162;162;162	B4DK51;A5PKY3;O15040	.;.;TCPR2_HUMAN	P	162	ENSP00000352510:L162P	ENSP00000352510:L162P	L	+	2	0	TECPR2	101950730	0.978000	0.34361	0.519000	0.27824	0.122000	0.20287	2.546000	0.45778	0.707000	0.31934	0.459000	0.35465	CTC		0.527	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2	NM_014844		C	102880977	T	C	102880977	3	2	803	1	0	0	0	0	1	0	0	0	15749	1551	54	3	499	3	TECPR2	14	102880977	Missense_Mutation	SNP	T	TCGA-UZ-A9PO-01A-11D-A382-10	32246027	102880977	4468563	57	47890											
GABRG3	2567	hgsc.bcm.edu	37	15	27773100	27773105	+	In_Frame_Del	DEL	AGATGG	AGATGG	-	rs200568627		TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	AGATGG	AGATGG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr15:27773100_27773105delAGATGG	ENST00000333743.6	+	9	1338_1343	c.1084_1089delAGATGG	c.(1084-1089)agatggdel	p.RW362del	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	362					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.R362T(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)	AGATTCCTCAAGATGGATTCCTGAGC	0.374																																					NSCLC(114;800 1656 7410 37729 45293)											1	Substitution - Missense(1)	upper_aerodigestive_tract(1)																																								SO:0001651	inframe_deletion	2567				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.1084_1089delAGATGG	chr15.hg19:g.27773100_27773105delAGATGG	ENSP00000331912:p.Arg362_Trp363del		G3V594|Q9HD46|Q9NYT2	In_Frame_Del	DEL	ENST00000333743.6	hg19	CCDS45195.1																																																																																				0.374	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103584.2			-	27773105	AGATGG	-	27773100	7	5	803	1	0	1	0	1	0	0	0	0	6175	64	3	0	1118	0	GABRG3	15	27773100	In_Frame_Del	DEL	AGATGG	TCGA-UZ-A9PO-01A-11D-A382-10		27773100	74758292	58	47891											
SCAMP2	10066	hgsc.bcm.edu	37	15	75140977	75141001	+	Frame_Shift_Del	DEL	ATGTAGATCCCTATTTGACAAAAAA	ATGTAGATCCCTATTTGACAAAAAA	-			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	ATGTAGATCCCTATTTGACAAAAAA	ATGTAGATCCCTATTTGACAAAAAA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr15:75140977_75141001delATGTAGATCCCTATTTGACAAAAAA	ENST00000268099.9	-	7	783_807	c.674_698delTTTTTTGTCAAATAGGGATCTACAT	c.(673-699)tttttttgtcaaatagggatctacatcfs	p.FFCQIGIYI225fs		NM_005697.3	NP_005688.2	O15127	SCAM2_HUMAN	secretory carrier membrane protein 2	225					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|recycling endosome membrane (GO:0055038)|trans-Golgi network membrane (GO:0032588)|transport vesicle (GO:0030133)		p.C227fs*3(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	9						CAACTGGATGATGTAGATCCCTATTTGACAAAAAAATACAAAGAA	0.498																																																1	Deletion - Frameshift(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	10066			AF005038	CCDS10271.1	15q23-q25	2013-02-21			ENSG00000140497	ENSG00000140497		"Secretory carrier membrane proteins"	10564	protein-coding gene	gene with protein product		606912				9378760	Standard	NM_005697		Approved		uc002azb.1	O15127	OTTHUMG00000142817	ENST00000268099.9:c.674_698delTTTTTTGTCAAATAGGGATCTACAT	chr15.hg19:g.75140977_75141001delATGTAGATCCCTATTTGACAAAAAA	ENSP00000268099:p.Phe225fs		B2RDF0|Q9BQE8	Frame_Shift_Del	DEL	ENST00000268099.9	hg19	CCDS10271.1																																																																																				0.498	SCAMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286403.3	NM_005697		-	75141001	ATGTAGATCCCTATTTGACAAAAAA	-	75140977	7	5	803	1	0	1	0	1	0	0	0	0	13877	333	12	0	303	0	SCAMP2	15	75140977	Frame_Shift_Del	DEL	ATGTAGATCCCTATTTGACAAAAAA	TCGA-UZ-A9PO-01A-11D-A382-10	47367877	75140977	27390415	59	47892											
C15orf39	56905	hgsc.bcm.edu	37	15	75498964	75498964	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr15:75498964G>A	ENST00000360639.2	+	2	895	c.575G>A	c.(574-576)cGg>cAg	p.R192Q	C15orf39_ENST00000567617.1_Missense_Mutation_p.R192Q|C15orf39_ENST00000394987.4_Missense_Mutation_p.R192Q			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	192						cytoplasm (GO:0005737)		p.V194fs*132(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						ACCTTCTTGCGGGGGGTGCCA	0.627																																																1	Deletion - Frameshift(1)	large_intestine(1)											37	41	40					15																	75498964		2197	4291	6488	SO:0001583	missense	56905			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.575G>A	chr15.hg19:g.75498964G>A	ENSP00000353854:p.Arg192Gln		B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	Missense_Mutation	SNP	ENST00000360639.2	hg19	CCDS10276.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.523013	0.27211	.	.	ENSG00000167173	ENST00000360639;ENST00000394987	T;T	0.65178	-0.14;-0.14	5.13	1.38	0.22167	.	0.643074	0.13616	N	0.374763	T	0.49558	0.1564	L	0.57536	1.79	0.09310	N	1	P	0.41673	0.759	B	0.35859	0.212	T	0.34925	-0.9809	10	0.33940	T	0.23	-2.3691	5.3924	0.16251	0.2698:0.2193:0.5109:0.0	.	192	Q6ZRI6	CO039_HUMAN	Q	192	ENSP00000353854:R192Q;ENSP00000378438:R192Q	ENSP00000353854:R192Q	R	+	2	0	C15orf39	73286017	0.002000	0.14202	0.569000	0.28460	0.861000	0.49209	0.198000	0.17217	0.410000	0.25675	0.561000	0.74099	CGG		0.627	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286410.1	NM_015492		A	75498964	G	A	75498964	3	1	803	1	0	0	0	0	1	0	0	0	1795	1116	39	1	577	1	C15orf39	15	75498964	Missense_Mutation	SNP	G	TCGA-UZ-A9PO-01A-11D-A382-10	357987	75498964	27032428	60	47893											
UNKL	64718	hgsc.bcm.edu	37	16	1417847	1417848	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	AC	AC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr16:1417847_1417848delAC	ENST00000389221.4	-	13	1587_1588	c.1588_1589delGT	c.(1588-1590)gtcfs	p.V530fs	UNKL_ENST00000403703.1_Frame_Shift_Del_p.V32fs|UNKL_ENST00000508903.2_Frame_Shift_Del_p.V533fs|UNKL_ENST00000391893.2_Frame_Shift_Del_p.V29fs|UNKL_ENST00000248104.7_Frame_Shift_Del_p.V29fs|UNKL_ENST00000402641.2_Frame_Shift_Del_p.V32fs|UNKL_ENST00000397464.1_Frame_Shift_Del_p.V32fs	NM_001193388.1	NP_001180317	Q9H9P5	UNKL_HUMAN	unkempt family zinc finger-like	530	Ser-rich.				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)				GCTCCCGGGGACACCGTTCAAA	0.649																																																0																																										SO:0001589	frameshift_variant	64718			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.1588_1589delGT	chr16.hg19:g.1417849_1417850delAC	ENSP00000373873:p.Val530fs		B0QYN6|B1GXI8|Q96EV1|Q96RZ1|Q9BWL5|Q9H5K0|Q9UJJ8	Frame_Shift_Del	DEL	ENST00000389221.4	hg19	CCDS53981.1																																																																																				0.649	UNKL-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001037125		-	1417848	AC	-	1417847	7	5	803	1	0	1	0	1	0	0	0	0	17006	275	10	0	615	0	UNKL	16	1417847	Frame_Shift_Del	DEL	AC	TCGA-UZ-A9PO-01A-11D-A382-10		1417847	88936906	61	47894											
CASKIN1	57524	hgsc.bcm.edu	37	16	2228947	2228947	+	Silent	SNP	C	C	T			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr16:2228947C>T	ENST00000343516.6	-	19	4247	c.4155G>A	c.(4153-4155)caG>caA	p.Q1385Q	CASKIN1_ENST00000564289.1_5'Flank	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	1385					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						CCTCCACCGCCTGCAGCGCCG	0.796																																																0													4	4	4					16																	2228947		1175	2788	3963	SO:0001819	synonymous_variant	57524			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.4155G>A	chr16.hg19:g.2228947C>T			Q9P2P0	Silent	SNP	ENST00000343516.6	hg19	CCDS42103.1																																																																																				0.796	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435055.1	NM_020764		T	2228947	C	T	2228947	2	4	803	1	0	0	0	0	0	0	0	1	2668	680	24	2		2	CASKIN1	16	2228947	Silent	SNP	C	TCGA-UZ-A9PO-01A-11D-A382-10	811100	2228947	88125806	62	47895											
SRRM2	23524	hgsc.bcm.edu	37	16	2815043	2815043	+	Missense_Mutation	SNP	T	T	C	rs541886234	byFrequency	TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr16:2815043T>C	ENST00000301740.8	+	11	5063	c.4514T>C	c.(4513-4515)cTc>cCc	p.L1505P		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1505	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						TCCCCAGAGCTCAACAACAAG	0.532																																																0													134	137	136					16																	2815043		2198	4300	6498	SO:0001583	missense	23524			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.4514T>C	chr16.hg19:g.2815043T>C	ENSP00000301740:p.Leu1505Pro		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	hg19	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	T	11.18	1.562907	0.27915	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	T	0.26957	1.7	5.9	4.8	0.61643	.	0.229124	0.31113	N	0.008221	T	0.22360	0.0539	L	0.36672	1.1	0.45930	D	0.998763	P	0.42039	0.769	B	0.42343	0.384	T	0.01753	-1.1281	10	0.39692	T	0.17	-1.9891	9.9236	0.41478	0.0:0.0:0.1788:0.8212	.	1505	Q9UQ35	SRRM2_HUMAN	P	1505;1505;757	ENSP00000301740:L1505P	ENSP00000301740:L1505P	L	+	2	0	SRRM2	2755044	0.987000	0.35691	1.000000	0.80357	0.990000	0.78478	0.820000	0.27323	1.045000	0.40225	0.533000	0.62120	CTC		0.532	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			C	2815043	T	C	2815043	3	2	803	1	0	0	0	0	1	0	0	0	15174	1551	54	3	4552	3	SRRM2	16	2815043	Missense_Mutation	SNP	T	TCGA-UZ-A9PO-01A-11D-A382-10	586096	2815043	87539710	63	47896											
CLDN6	9074	hgsc.bcm.edu	37	16	3065429	3065429	+	Silent	SNP	G	G	A			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr16:3065429G>A	ENST00000396925.1	-	3	1022	c.594C>T	c.(592-594)gcC>gcT	p.A198A	CLDN6_ENST00000328796.4_Silent_p.A198A|CLDN6_ENST00000572154.1_Intron			P56747	CLD6_HUMAN	claudin 6	198					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						TTGAGTAGCGGGCCATGTAAT	0.652																																																0													43	49	47					16																	3065429		2198	4300	6498	SO:0001819	synonymous_variant	9074			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.594C>T	chr16.hg19:g.3065429G>A			B3KQP9|D3DUA5	Silent	SNP	ENST00000396925.1	hg19	CCDS10488.1																																																																																				0.652	CLDN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250988.1	NM_021195		A	3065429	G	A	3065429	2	1	803	1	0	0	0	0	0	0	0	1	3491	1219	43	2		2	CLDN6	16	3065429	Silent	SNP	G	TCGA-UZ-A9PO-01A-11D-A382-10	250386	3065429	87289324	64	47897											
UQCRC2	7385	hgsc.bcm.edu	37	16	21974187	21974187	+	Silent	SNP	C	C	T			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr16:21974187C>T	ENST00000268379.4	+	6	1259	c.495C>T	c.(493-495)gcC>gcT	p.A165A	UQCRC2_ENST00000561553.1_Silent_p.A165A	NM_003366.2	NP_003357.2	P22695	QCR2_HUMAN	ubiquinol-cytochrome c reductase core protein II	165					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)		AAGCTGTGGCCTTTCAGAATC	0.398																																					Colon(123;450 1645 12841 25393 45623)											0													85	76	79					16																	21974187		2198	4300	6498	SO:0001819	synonymous_variant	7385			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.495C>T	chr16.hg19:g.21974187C>T			B3KSN4|Q9BQ05	Silent	SNP	ENST00000268379.4	hg19	CCDS10601.1																																																																																				0.398	UQCRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254466.1	NM_003366		T	21974187	C	T	21974187	2	4	803	1	0	0	0	0	0	0	0	1	17025	668	24	2		2	UQCRC2	16	21974187	Silent	SNP	C	TCGA-UZ-A9PO-01A-11D-A382-10	18908758	21974187	68380566	65	47898											
ERN2	10595	hgsc.bcm.edu	37	16	23711991	23711991	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr16:23711991G>A	ENST00000457008.2	-	12	1276	c.1238C>T	c.(1237-1239)aCc>aTc	p.T413I	ERN2_ENST00000256797.4_Missense_Mutation_p.T513I					endoplasmic reticulum to nucleus signaling 2											large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		TGCCAGGGGGGTCTCCTGCTG	0.627																																																0													58	59	59					16																	23711991		2197	4300	6497	SO:0001583	missense	10595			AA527544	CCDS32407.1	16p12.2	2008-02-05	2007-08-14			ENSG00000134398			16942	protein-coding gene	gene with protein product		604034	"ER to nucleus signalling 2"			9755171, 11175748	Standard	NM_033266		Approved	IRE1b	uc002dma.4	Q76MJ5		ENST00000457008.2:c.1238C>T	chr16.hg19:g.23711991G>A	ENSP00000413812:p.Thr413Ile			Missense_Mutation	SNP	ENST00000457008.2	hg19		.	.	.	.	.	.	.	.	.	.	G	7.968	0.748362	0.15710	.	.	ENSG00000134398	ENST00000256797;ENST00000457008	T;T	0.60424	0.19;0.23	4.27	-2.79	0.05841	.	1.458410	0.04022	N	0.299985	T	0.33933	0.0880	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.08617	-1.0713	10	0.37606	T	0.19	.	0.7973	0.01068	0.1835:0.2906:0.247:0.2789	.	413;465	E7ETG2;A5YM65	.;.	I	513;413	ENSP00000256797:T513I;ENSP00000413812:T413I	ENSP00000256797:T513I	T	-	2	0	ERN2	23619492	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.286000	0.08399	-0.459000	0.07013	-0.258000	0.10820	ACC		0.627	ERN2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000434886.1			A	23711991	G	A	23711991	3	1	803	1	0	0	0	0	1	0	0	0	5240	1261	44	2	1426	2	ERN2	16	23711991	Missense_Mutation	SNP	G	TCGA-UZ-A9PO-01A-11D-A382-10	1737804	23711991	66642762	66	47899											
MBTPS1	8720	hgsc.bcm.edu	37	16	84132688	84132688	+	Missense_Mutation	SNP	T	T	G			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr16:84132688T>G	ENST00000343411.3	-	3	886	c.391A>C	c.(391-393)Aaa>Caa	p.K131Q		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	131					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						CGAAAGACTTTTCGTTGGGGC	0.413																																																0													172	162	166					16																	84132688		2200	4300	6500	SO:0001583	missense	8720			D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"membrane-bound transcription factor protease, site 1"			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.391A>C	chr16.hg19:g.84132688T>G	ENSP00000344223:p.Lys131Gln		A8K6V8|Q24JQ2|Q9UF67	Missense_Mutation	SNP	ENST00000343411.3	hg19	CCDS10941.1	.	.	.	.	.	.	.	.	.	.	T	11.86	1.763541	0.31228	.	.	ENSG00000140943	ENST00000343411	T	0.42900	0.96	5.61	5.61	0.85477	.	0.259036	0.44902	D	0.000407	T	0.26882	0.0658	N	0.20685	0.6	0.32674	N	0.516437	B	0.10296	0.003	B	0.06405	0.002	T	0.30031	-0.9992	10	0.17369	T	0.5	-13.823	11.7501	0.51843	0.0:0.0:0.1471:0.8529	.	131	Q14703	MBTP1_HUMAN	Q	131	ENSP00000344223:K131Q	ENSP00000344223:K131Q	K	-	1	0	MBTPS1	82690189	1.000000	0.71417	0.994000	0.49952	0.833000	0.47200	5.752000	0.68728	2.139000	0.66308	0.528000	0.53228	AAA		0.413	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	NM_003791		G	84132688	T	G	84132688	3	3	803	1	0	0	0	0	1	0	0	0	9363	1850	64	5	2851	5	MBTPS1	16	84132688	Missense_Mutation	SNP	T	TCGA-UZ-A9PO-01A-11D-A382-10	60420697	84132688	6222065	67	47900											
WIPF2	147179	hgsc.bcm.edu	37	17	38430244	38430244	+	Frame_Shift_Del	DEL	T	T	-			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr17:38430244delT	ENST00000323571.4	+	6	1413	c.1173delT	c.(1171-1173)tctfs	p.S391fs	WIPF2_ENST00000585043.1_Frame_Shift_Del_p.S391fs|WIPF2_ENST00000583130.1_Frame_Shift_Del_p.S391fs|WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000394103.3_Frame_Shift_Del_p.S133fs|WIPF2_ENST00000536600.1_Frame_Shift_Del_p.S133fs	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	391					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						CTGTCCGGTCTTTCTTGGGTG	0.592										HNSCC(43;0.11)																																						0													135	110	119					17																	38430244		2203	4300	6503	SO:0001589	frameshift_variant	147179			BC025965	CCDS11364.1	17q21.2	2006-10-12			ENSG00000171475	ENSG00000171475			30923	protein-coding gene	gene with protein product		609692				12213210, 11829459	Standard	XM_005257083		Approved	WICH, WIRE	uc002hug.1	Q8TF74	OTTHUMG00000133331	ENST00000323571.4:c.1173delT	chr17.hg19:g.38430244delT	ENSP00000320924:p.Ser391fs		A8K0L3|Q658J8|Q71RE1|Q8TE44	Frame_Shift_Del	DEL	ENST00000323571.4	hg19	CCDS11364.1																																																																																				0.592	WIPF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257157.2	NM_133264		-	38430244	T	-	38430244	7	5	803	1	0	1	0	1	0	0	0	0	17373	1596	56	0	1191	0	WIPF2	17	38430244	Frame_Shift_Del	DEL	T	TCGA-UZ-A9PO-01A-11D-A382-10		38430244	42764966	68	47901											
PPM1E	22843	hgsc.bcm.edu	37	17	56833454	56833454	+	Silent	SNP	G	G	A	rs77856248		TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr17:56833454G>A	ENST00000308249.2	+	1	225	c.96G>A	c.(94-96)gaG>gaA	p.E32E		NM_014906.4	NP_055721.3	Q96MI6	PPM1M_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	0	PP2C-like.				protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|manganese ion binding (GO:0030145)			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			Gcgagccggagccggaacccg	0.667																																																0													14	20	18					17																	56833454		2185	4284	6469	SO:0001819	synonymous_variant	22843			AB028995	CCDS11613.1	17q24.2	2012-04-17	2010-03-05		ENSG00000175175	ENSG00000175175		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	19322	protein-coding gene	gene with protein product	"partner of PIX 1", "nuclear calmodulin-dependent protein kinase phosphatase"		"protein phosphatase 1E (PP2C domain containing)"			11864573, 10470851	Standard	NR_048561		Approved	POPX1, KIAA1072, PP2CH, CaMKP-N	uc002iwx.4	Q8WY54		ENST00000308249.2:c.96G>A	chr17.hg19:g.56833454G>A			Q8N8J9|Q96DB8	Silent	SNP	ENST00000308249.2	hg19	CCDS11613.1																																																																																				0.667	PPM1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445458.1	NM_014906		A	56833454	G	A	56833454	2	1	803	1	0	0	0	0	0	0	0	1	12343	962	34	2		2	PPM1E	17	56833454	Silent	SNP	G	TCGA-UZ-A9PO-01A-11D-A382-10	18403210	56833454	24361756	69	47902	513	2									
PPM1E	22843	hgsc.bcm.edu	37	17	56833457	56833457	+	Silent	SNP	G	G	C	rs3834568|rs201186780|rs74256772	byFrequency	TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr17:56833457G>C	ENST00000308249.2	+	1	228	c.99G>C	c.(97-99)ccG>ccC	p.P33P		NM_014906.4	NP_055721.3	Q96MI6	PPM1M_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	0	PP2C-like.				protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|manganese ion binding (GO:0030145)			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			agccggagccggaacccgaac	0.672																																																0													14	20	18					17																	56833457		2188	4284	6472	SO:0001819	synonymous_variant	22843			AB028995	CCDS11613.1	17q24.2	2012-04-17	2010-03-05		ENSG00000175175	ENSG00000175175		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	19322	protein-coding gene	gene with protein product	"partner of PIX 1", "nuclear calmodulin-dependent protein kinase phosphatase"		"protein phosphatase 1E (PP2C domain containing)"			11864573, 10470851	Standard	NR_048561		Approved	POPX1, KIAA1072, PP2CH, CaMKP-N	uc002iwx.4	Q8WY54		ENST00000308249.2:c.99G>C	chr17.hg19:g.56833457G>C			Q8N8J9|Q96DB8	Silent	SNP	ENST00000308249.2	hg19	CCDS11613.1																																																																																				0.672	PPM1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445458.1	NM_014906		C	56833457	G	C	56833457	2	2	803	1	0	0	0	0	0	0	0	1	12343	1103	39	4		4	PPM1E	17	56833457	Silent	SNP	G	TCGA-UZ-A9PO-01A-11D-A382-10	3	56833457	24361753	70	47903	513	2									
PPM1E	22843	hgsc.bcm.edu	37	17	56833490	56833490	+	Silent	SNP	G	G	A	rs59676153		TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr17:56833490G>A	ENST00000308249.2	+	1	261	c.132G>A	c.(130-132)gaG>gaA	p.E44E		NM_014906.4	NP_055721.3	Q96MI6	PPM1M_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	0	PP2C-like.				protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|manganese ion binding (GO:0030145)			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			ccgaacccgagtccgagcccg	0.706																																																0																																										SO:0001819	synonymous_variant	22843			AB028995	CCDS11613.1	17q24.2	2012-04-17	2010-03-05		ENSG00000175175	ENSG00000175175		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	19322	protein-coding gene	gene with protein product	"partner of PIX 1", "nuclear calmodulin-dependent protein kinase phosphatase"		"protein phosphatase 1E (PP2C domain containing)"			11864573, 10470851	Standard	NR_048561		Approved	POPX1, KIAA1072, PP2CH, CaMKP-N	uc002iwx.4	Q8WY54		ENST00000308249.2:c.132G>A	chr17.hg19:g.56833490G>A			Q8N8J9|Q96DB8	Silent	SNP	ENST00000308249.2	hg19	CCDS11613.1																																																																																				0.706	PPM1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445458.1	NM_014906		A	56833490	G	A	56833490	2	1	803	1	0	0	0	0	0	0	0	1	12343	1020	36	2		2	PPM1E	17	56833490	Silent	SNP	G	TCGA-UZ-A9PO-01A-11D-A382-10	33	56833490	24361720	71	47904	514	2									
PPM1E	22843	hgsc.bcm.edu	37	17	56833497	56833497	+	Missense_Mutation	SNP	C	C	T	rs61052860		TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr17:56833497C>T	ENST00000308249.2	+	1	268	c.139C>T	c.(139-141)Ccc>Tcc	p.P47S		NM_014906.4	NP_055721.3	Q96MI6	PPM1M_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	0	PP2C-like.				protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|manganese ion binding (GO:0030145)			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			cgagtccgagcccgagcccga	0.701																																																0													15	17	16					17																	56833497		2188	4270	6458	SO:0001583	missense	22843			AB028995	CCDS11613.1	17q24.2	2012-04-17	2010-03-05		ENSG00000175175	ENSG00000175175		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	19322	protein-coding gene	gene with protein product	"partner of PIX 1", "nuclear calmodulin-dependent protein kinase phosphatase"		"protein phosphatase 1E (PP2C domain containing)"			11864573, 10470851	Standard	NR_048561		Approved	POPX1, KIAA1072, PP2CH, CaMKP-N	uc002iwx.4	Q8WY54		ENST00000308249.2:c.139C>T	chr17.hg19:g.56833497C>T	ENSP00000312411:p.Pro47Ser		Q8N8J9|Q96DB8	Missense_Mutation	SNP	ENST00000308249.2	hg19	CCDS11613.1	.	.	.	.	.	.	.	.	.	.	C	9.492	1.100828	0.20552	.	.	ENSG00000175175	ENST00000308249	T	0.22336	1.96	4.15	3.1	0.35709	.	.	.	.	.	T	0.09202	0.0227	N	0.14661	0.345	0.23192	N	0.998149	P	0.36909	0.573	B	0.32342	0.144	T	0.08452	-1.0721	9	0.02654	T	1	1.9125	10.3339	0.43839	0.0:0.7991:0.2009:0.0	rs61052860	47	Q8WY54-2	.	S	47	ENSP00000312411:P47S	ENSP00000312411:P47S	P	+	1	0	PPM1E	54188496	0.741000	0.28217	1.000000	0.80357	0.229000	0.25112	1.208000	0.32345	2.017000	0.59298	0.462000	0.41574	CCC		0.701	PPM1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445458.1	NM_014906		T	56833497	C	T	56833497	3	4	803	1	0	0	0	0	1	0	0	0	12343	739	26	2	141	2	PPM1E	17	56833497	Missense_Mutation	SNP	C	TCGA-UZ-A9PO-01A-11D-A382-10	7	56833497	24361713	72	47905	514	2									
MGAT5B	146664	hgsc.bcm.edu	37	17	74943970	74943970	+	Missense_Mutation	SNP	T	T	C			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr17:74943970T>C	ENST00000569840.2	+	17	2556	c.1982T>C	c.(1981-1983)tTt>tCt	p.F661S	MGAT5B_ENST00000428789.2_Missense_Mutation_p.F670S|RP11-87G24.3_ENST00000564292.1_RNA|MGAT5B_ENST00000301618.4_Missense_Mutation_p.F659S	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	661					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						CAGAGCCCCTTTGTCCTGGCC	0.706																																																0													34	33	34					17																	74943970		2202	4300	6502	SO:0001583	missense	146664			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.1982T>C	chr17.hg19:g.74943970T>C	ENSP00000456037:p.Phe661Ser		Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Missense_Mutation	SNP	ENST00000569840.2	hg19	CCDS59299.1	.	.	.	.	.	.	.	.	.	.	T	6.753	0.507770	0.12883	.	.	ENSG00000167889	ENST00000301618;ENST00000428789	T;T	0.42900	0.97;0.96	4.66	3.34	0.38264	.	0.269957	0.36167	N	0.002753	T	0.28466	0.0704	L	0.34521	1.04	0.09310	N	0.999997	B;B;B	0.16802	0.019;0.004;0.001	B;B;B	0.17722	0.019;0.002;0.001	T	0.10753	-1.0616	10	0.32370	T	0.25	-9.8741	7.6968	0.28600	0.0:0.1868:0.0:0.8132	.	66;670;659	Q3V5L5-4;Q3V5L5-2;Q3V5L5-5	.;.;.	S	659;670	ENSP00000301618:F659S;ENSP00000391227:F670S	ENSP00000301618:F659S	F	+	2	0	MGAT5B	72455565	0.108000	0.22018	0.935000	0.37517	0.286000	0.27126	2.066000	0.41452	1.731000	0.51592	0.455000	0.32223	TTT		0.706	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460624.2	NM_144677		C	74943970	T	C	74943970	3	2	803	1	0	0	0	0	1	0	0	0	9551	1841	64	3	2139	3	MGAT5B	17	74943970	Missense_Mutation	SNP	T	TCGA-UZ-A9PO-01A-11D-A382-10	18110473	74943970	6251240	73	47906											
NPTX1	4884	hgsc.bcm.edu	37	17	78450218	78450227	+	Frame_Shift_Del	DEL	CAGGTGCGCG	CAGGTGCGCG	-			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	CAGGTGCGCG	CAGGTGCGCG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr17:78450218_78450227delCAGGTGCGCG	ENST00000306773.4	-	1	177_186	c.20_29delCGCGCACCTG	c.(19-30)gcgcgcacctgtfs	p.ARTC7fs	NPTX1_ENST00000575212.1_Intron	NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	neuronal pentraxin I	7				Missing (in Ref. 1; AAC50727). {ECO:0000305}.	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)			GAGCAGCGCACAGGTgcgcgcggcgcggcc	0.79																																																0																																										SO:0001589	frameshift_variant	4884			U61849	CCDS32762.1	17q25.3	2008-05-14				ENSG00000171246			7952	protein-coding gene	gene with protein product		602367				8884281	Standard	NM_002522		Approved		uc002jyp.1	Q15818		ENST00000306773.4:c.20_29delCGCGCACCTG	chr17.hg19:g.78450218_78450227delCAGGTGCGCG	ENSP00000307549:p.Ala7fs		B3KXH3|Q5FWE6	Frame_Shift_Del	DEL	ENST00000306773.4	hg19	CCDS32762.1																																																																																				0.79	NPTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438051.1			-	78450227	CAGGTGCGCG	-	78450218	7	5	803	1	0	1	0	1	0	0	0	0	10604	478	17	0	1289	0	NPTX1	17	78450218	Frame_Shift_Del	DEL	CAGGTGCGCG	TCGA-UZ-A9PO-01A-11D-A382-10	3506248	78450218	2744992	74	47907											
LPIN2	9663	hgsc.bcm.edu	37	18	2931299	2931299	+	Missense_Mutation	SNP	G	G	C			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr18:2931299G>C	ENST00000261596.4	-	9	1649	c.1411C>G	c.(1411-1413)Ctc>Gtc	p.L471V		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	471					cellular lipid metabolic process (GO:0044255)|dephosphorylation (GO:0016311)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)|transcription coactivator activity (GO:0003713)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		CAAAGGGAGAGGGTAACGTCA	0.542																																																0													68	61	63					18																	2931299		2203	4300	6503	SO:0001583	missense	9663			D87436	CCDS11829.1	18p	2014-09-17			ENSG00000101577	ENSG00000101577			14450	protein-coding gene	gene with protein product		605519				11138012, 9039502	Standard	NM_014646		Approved	KIAA0249	uc002klo.3	Q92539	OTTHUMG00000131508	ENST00000261596.4:c.1411C>G	chr18.hg19:g.2931299G>C	ENSP00000261596:p.Leu471Val		A7MD25|D3DUH3	Missense_Mutation	SNP	ENST00000261596.4	hg19	CCDS11829.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.465248	0.84425	.	.	ENSG00000101577	ENST00000261596	D	0.84730	-1.89	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.92993	0.7770	M	0.87269	2.87	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	D	0.93312	0.6685	10	0.62326	D	0.03	-22.4301	14.5421	0.68002	0.0695:0.0:0.9305:0.0	.	471	Q92539	LPIN2_HUMAN	V	471	ENSP00000261596:L471V	ENSP00000261596:L471V	L	-	1	0	LPIN2	2921299	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.252000	0.72447	2.815000	0.96918	0.650000	0.86243	CTC		0.542	LPIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254363.2	NM_014646		C	2931299	G	C	2931299	3	2	803	1	0	0	0	0	1	0	0	0	8921	1000	35	4	1327	4	LPIN2	18	2931299	Missense_Mutation	SNP	G	TCGA-UZ-A9PO-01A-11D-A382-10		2931299	75145949	75	47908											
EPB41L3	23136	hgsc.bcm.edu	37	18	5395104	5395104	+	Missense_Mutation	SNP	T	T	C			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr18:5395104T>C	ENST00000341928.2	-	21	3455	c.3115A>G	c.(3115-3117)Ata>Gta	p.I1039V	EPB41L3_ENST00000542146.1_Missense_Mutation_p.I344V|EPB41L3_ENST00000540638.2_Missense_Mutation_p.I817V|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000427684.2_Missense_Mutation_p.I336V|EPB41L3_ENST00000400111.3_Missense_Mutation_p.I817V|EPB41L3_ENST00000342933.3_Missense_Mutation_p.I1039V|EPB41L3_ENST00000544123.1_Missense_Mutation_p.I870V	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	1039	C-terminal (CTD).				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GTGATGACTATTCGCTTCTCA	0.453																																																0													148	126	134					18																	5395104		2203	4300	6503	SO:0001583	missense	23136			AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.3115A>G	chr18.hg19:g.5395104T>C	ENSP00000343158:p.Ile1039Val		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	hg19	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	T	28.5	4.926796	0.92319	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000427684;ENST00000542146;ENST00000342933;ENST00000400111	D;D;D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57;-1.57;-1.57	5.93	5.93	0.95920	Band 4.1, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.90590	0.7050	M	0.72479	2.2	0.80722	D	1	P;P;D;D;D;P;D;D	0.71674	0.858;0.943;0.995;0.962;0.993;0.923;0.998;0.998	P;D;D;P;D;P;D;D	0.87578	0.856;0.946;0.992;0.883;0.987;0.54;0.998;0.991	D	0.91479	0.5203	10	0.87932	D	0	.	16.3943	0.83563	0.0:0.0:0.0:1.0	.	870;336;344;431;708;817;1039;274	F5GX05;E7EUF8;F5H7W5;B7Z8M8;A8K968;Q9Y2J2-2;Q9Y2J2;B3KT50	.;.;.;.;.;.;E41L3_HUMAN;.	V	1039;708;870;708;336;344;1039;817	ENSP00000343158:I1039V;ENSP00000441174:I870V;ENSP00000392195:I336V;ENSP00000442233:I344V;ENSP00000341138:I1039V;ENSP00000382981:I817V	ENSP00000343158:I1039V	I	-	1	0	EPB41L3	5385104	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	7.991000	0.88244	2.281000	0.76405	0.533000	0.62120	ATA		0.453	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		C	5395104	T	C	5395104	3	2	803	1	0	0	0	0	1	0	0	0	5156	1493	52	3	156	3	EPB41L3	18	5395104	Missense_Mutation	SNP	T	TCGA-UZ-A9PO-01A-11D-A382-10	2463805	5395104	72682144	76	47909											
PTPRM	5797	hgsc.bcm.edu	37	18	8244180	8244180	+	Missense_Mutation	SNP	A	A	G			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr18:8244180A>G	ENST00000332175.8	+	15	3462	c.2425A>G	c.(2425-2427)Atg>Gtg	p.M809V	PTPRM_ENST00000580170.1_Missense_Mutation_p.M809V|PTPRM_ENST00000400053.4_Missense_Mutation_p.M747V|PTPRM_ENST00000444013.1_Missense_Mutation_p.M596V|PTPRM_ENST00000400060.4_Missense_Mutation_p.M809V	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	809					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)				TTTCTCATTCATGGACACGCA	0.483																																																0													153	134	141					18																	8244180		2203	4300	6503	SO:0001583	missense	5797			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.2425A>G	chr18.hg19:g.8244180A>G	ENSP00000331418:p.Met809Val		A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	hg19	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	A	13.14	2.147098	0.37923	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.44881	1.3;1.23;1.05;0.91	5.71	4.56	0.56223	.	0.080339	0.85682	D	0.000000	T	0.40272	0.1110	M	0.62723	1.935	0.52501	D	0.999953	B;B;B	0.18461	0.028;0.0;0.0	B;B;B	0.17722	0.019;0.0;0.001	T	0.19031	-1.0318	10	0.35671	T	0.21	.	11.5687	0.50822	0.9303:0.0:0.0697:0.0	.	596;809;809	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	V	809;809;747;596	ENSP00000331418:M809V;ENSP00000382933:M809V;ENSP00000382927:M747V;ENSP00000387608:M596V	ENSP00000331418:M809V	M	+	1	0	PTPRM	8234180	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.121000	0.71602	1.003000	0.39130	0.455000	0.32223	ATG		0.483	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			G	8244180	A	G	8244180	3	3	803	1	0	0	0	0	1	0	0	0	12812	217	8	3	2483	3	PTPRM	18	8244180	Missense_Mutation	SNP	A	TCGA-UZ-A9PO-01A-11D-A382-10	2849076	8244180	69833068	77	47910											
PTPRM	5797	hgsc.bcm.edu	37	18	8380303	8380303	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr18:8380303C>T	ENST00000332175.8	+	27	4794	c.3757C>T	c.(3757-3759)Cag>Tag	p.Q1253*	PTPRM_ENST00000580170.1_Nonsense_Mutation_p.Q1266*|PTPRM_ENST00000400053.4_Nonsense_Mutation_p.Q1191*|PTPRM_ENST00000444013.1_Nonsense_Mutation_p.Q1040*|PTPRM_ENST00000400060.4_Nonsense_Mutation_p.Q1267*	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1253	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)				GAGCTATAAACAGCCTTCAGC	0.423																																																0													85	78	80					18																	8380303		2203	4300	6503	SO:0001587	stop_gained	5797			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.3757C>T	chr18.hg19:g.8380303C>T	ENSP00000331418:p.Gln1253*		A7MBN1|D3DUH8|J3QL11	Nonsense_Mutation	SNP	ENST00000332175.8	hg19	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	C	51	17.626486	0.99890	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	20.1184	0.97949	0.0:1.0:0.0:0.0	.	.	.	.	X	1253;1267;1191;1040	.	ENSP00000331418:Q1253X	Q	+	1	0	PTPRM	8370303	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.769000	0.95229	0.655000	0.94253	CAG		0.423	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			T	8380303	C	T	8380303	4	4	803	1	0	0	0	0	0	1	0	0	12812	479	17	2	3910	2	PTPRM	18	8380303	Nonsense_Mutation	SNP	C	TCGA-UZ-A9PO-01A-11D-A382-10	136123	8380303	69696945	78	47911											
KDSR	2531	hgsc.bcm.edu	37	18	61018276	61018276	+	Missense_Mutation	SNP	G	G	T			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr18:61018276G>T	ENST00000406396.3	-	6	845	c.454C>A	c.(454-456)Ccc>Acc	p.P152T	KDSR_ENST00000326575.5_Intron	NM_002035.2	NP_002026.1	Q06136	KDSR_HUMAN	3-ketodihydrosphingosine reductase	152					3-keto-sphinganine metabolic process (GO:0006666)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3-dehydrosphinganine reductase activity (GO:0047560)			endometrium(2)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	9						GCCCGGCTGGGGTACACGCTG	0.552																																																0													75	74	75					18																	61018276		2203	4300	6503	SO:0001583	missense	2531				CCDS11982.1	18q21	2011-09-20	2008-02-20	2008-02-20	ENSG00000119537	ENSG00000119537	1.1.1.102	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	4021	protein-coding gene	gene with protein product	"3-dehydrosphinganine reductase", "short chain dehydrogenase/reductase family 35C, member 1"	136440	"follicular lymphoma variant translocation 1"	FVT1		8417785, 15328338, 17420465, 19027726	Standard	NM_002035		Approved	DHSR, SDR35C1	uc010dpw.3	Q06136	OTTHUMG00000132792	ENST00000406396.3:c.454C>A	chr18.hg19:g.61018276G>T	ENSP00000385083:p.Pro152Thr		B2R5Y1|B4DMX0	Missense_Mutation	SNP	ENST00000406396.3	hg19	CCDS11982.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.987666	0.74589	.	.	ENSG00000119537	ENST00000406396	D	0.86769	-2.17	5.95	5.95	0.96441	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.76026	0.3930	N	0.00560	-1.38	0.80722	D	1	D	0.58970	0.984	P	0.54815	0.761	T	0.78558	-0.2158	10	0.10377	T	0.69	.	20.3931	0.98965	0.0:0.0:1.0:0.0	.	152	Q06136	KDSR_HUMAN	T	152	ENSP00000385083:P152T	ENSP00000385083:P152T	P	-	1	0	KDSR	59169256	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.617000	0.67716	2.824000	0.97209	0.655000	0.94253	CCC		0.552	KDSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256200.2			T	61018276	G	T	61018276	3	4	803	1	0	0	0	0	1	0	0	0	8142	1232	43	4	564	4	KDSR	18	61018276	Missense_Mutation	SNP	G	TCGA-UZ-A9PO-01A-11D-A382-10	52637973	61018276	17058972	79	47912											
JSRP1	126306	hgsc.bcm.edu	37	19	2254452	2254452	+	Missense_Mutation	SNP	C	C	T	rs566252055		TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr19:2254452C>T	ENST00000300961.6	-	3	203	c.139G>A	c.(139-141)Gtg>Atg	p.V47M	JSRP1_ENST00000586471.2_Missense_Mutation_p.V47M	NM_144616.3	NP_653217.1	Q96MG2	JSPR1_HUMAN	junctional sarcoplasmic reticulum protein 1	47	Mediates interaction with CACNA1S. {ECO:0000250}.				protein localization to membrane (GO:0072657)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|skeletal muscle contraction (GO:0003009)	membrane (GO:0016020)|sarcoplasmic reticulum (GO:0016529)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|pancreas(1)|urinary_tract(1)	6				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)		ACGTGGGGCACGCTGCCGGAG	0.667													C|||	1	0.000199681	0.0	0.0	5008	,	,		15668	0.0		0.0	False		,,,				2504	0.001															0													42	39	40					19																	2254452		2201	4300	6501	SO:0001583	missense	126306			AK056978	CCDS12086.1	19p13.3	2010-03-23			ENSG00000167476	ENSG00000167476			24963	protein-coding gene	gene with protein product	"homolog of mouse skeletal muscle sarcoplasmic reticulum protein JP-45"	608743				12871958	Standard	NM_144616		Approved	JP-45, FLJ32416	uc002lvj.2	Q96MG2		ENST00000300961.6:c.139G>A	chr19.hg19:g.2254452C>T	ENSP00000300961:p.Val47Met			Missense_Mutation	SNP	ENST00000300961.6	hg19	CCDS12086.1	.	.	.	.	.	.	.	.	.	.	c	6.447	0.450553	0.12223	.	.	ENSG00000167476	ENST00000300961	T	0.18338	2.22	3.23	-4.87	0.03123	.	3.543170	0.00710	N	0.000821	T	0.06962	0.0177	N	0.08118	0	0.09310	N	1	P	0.36712	0.566	B	0.27887	0.084	T	0.16808	-1.0390	10	0.30854	T	0.27	0.0	6.6524	0.22969	0.2046:0.311:0.4844:0.0	.	47	Q96MG2	JSPR1_HUMAN	M	47	ENSP00000300961:V47M	ENSP00000300961:V47M	V	-	1	0	JSRP1	2205452	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.189000	0.09629	-1.280000	0.02402	-2.474000	0.00201	GTG		0.667	JSRP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451266.2	NM_144616		T	2254452	C	T	2254452	3	4	803	1	0	0	0	0	1	0	0	0	7968	536	19	1	876	1	JSRP1	19	2254452	Missense_Mutation	SNP	C	TCGA-UZ-A9PO-01A-11D-A382-10		2254452	56874531	80	47913											
PRAM1	84106	hgsc.bcm.edu	37	19	8563902	8563902	+	Missense_Mutation	SNP	G	G	T	rs564707710		TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr19:8563902G>T	ENST00000423345.4	-	2	1310	c.790C>A	c.(790-792)Cgc>Agc	p.R264S	PRAM1_ENST00000255612.3_Missense_Mutation_p.R264S			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	312	Pro-rich.				integrin-mediated signaling pathway (GO:0007229)|regulation of neutrophil degranulation (GO:0043313)		lipid binding (GO:0008289)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						CTGGAGTCGCGCTTCGGCTCG	0.647																																																0													35	40	38					19																	8563902		2177	4280	6457	SO:0001583	missense	84106			BC028012	CCDS45954.1, CCDS45954.2	19p13.2	2009-01-21				ENSG00000133246			30091	protein-coding gene	gene with protein product		606466				11301322, 15572693	Standard	NM_032152		Approved	PML-RAR	uc002mkd.3	Q96QH2		ENST00000423345.4:c.790C>A	chr19.hg19:g.8563902G>T	ENSP00000408342:p.Arg264Ser		Q8N6W7	Missense_Mutation	SNP	ENST00000423345.4	hg19	CCDS45954.2	.	.	.	.	.	.	.	.	.	.	G	2.680	-0.275657	0.05679	.	.	ENSG00000133246	ENST00000255612;ENST00000423345	T;T	0.13089	2.62;2.62	3.91	1.63	0.23807	.	.	.	.	.	T	0.06554	0.0168	N	0.08118	0	0.09310	N	1	B;B	0.25563	0.012;0.129	B;B	0.28385	0.089;0.049	T	0.42716	-0.9435	9	0.09590	T	0.72	.	9.9374	0.41559	0.0:0.4064:0.5936:0.0	.	264;312	Q96QH2-2;Q96QH2	.;PRAM_HUMAN	S	264	ENSP00000255612:R264S;ENSP00000408342:R264S	ENSP00000255612:R264S	R	-	1	0	PRAM1	8469902	0.001000	0.12720	0.009000	0.14445	0.002000	0.02628	0.646000	0.24797	0.558000	0.29135	0.591000	0.81541	CGC		0.647	PRAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397040.3	NM_032152		T	8563902	G	T	8563902	3	4	803	1	0	0	0	0	1	0	0	0	12428	1087	38	4	1255	4	PRAM1	19	8563902	Missense_Mutation	SNP	G	TCGA-UZ-A9PO-01A-11D-A382-10	6309450	8563902	50565081	81	47914											
ATG4D	84971	hgsc.bcm.edu	37	19	10662945	10662945	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr19:10662945G>A	ENST00000309469.4	+	9	1360	c.1187G>A	c.(1186-1188)gGc>gAc	p.G396D	MIR1238_ENST00000408483.1_RNA|ATG4D_ENST00000540862.1_Missense_Mutation_p.G63D|RNU7-140P_ENST00000459546.1_RNA	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	396					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)			TGTACCGTGGGCTTCTATGCT	0.612																																																0													72	64	66					19																	10662945		2203	4300	6503	SO:0001583	missense	84971			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.1187G>A	chr19.hg19:g.10662945G>A	ENSP00000311318:p.Gly396Asp		Q969K0	Missense_Mutation	SNP	ENST00000309469.4	hg19	CCDS12241.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.820094	0.90873	.	.	ENSG00000130734	ENST00000309469;ENST00000540862	T	0.56776	0.44	5.28	5.28	0.74379	.	0.049049	0.85682	D	0.000000	T	0.77438	0.4130	M	0.91768	3.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.82238	-0.0556	10	0.87932	D	0	-24.6618	13.7396	0.62840	0.0:0.1548:0.8452:0.0	.	333;396	B4DGM8;Q86TL0	.;ATG4D_HUMAN	D	396;63	ENSP00000311318:G396D	ENSP00000311318:G396D	G	+	2	0	ATG4D	10523945	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.438000	0.80431	2.635000	0.89317	0.561000	0.74099	GGC		0.612	ATG4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452022.1	NM_032885		A	10662945	G	A	10662945	3	1	803	1	0	0	0	0	1	0	0	0	1099	1203	42	2	1221	2	ATG4D	19	10662945	Missense_Mutation	SNP	G	TCGA-UZ-A9PO-01A-11D-A382-10	2099043	10662945	48466038	82	47915											
DOCK6	57572	hgsc.bcm.edu	37	19	11358812	11358812	+	Missense_Mutation	SNP	G	G	A	rs546562962		TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr19:11358812G>A	ENST00000294618.7	-	7	747	c.736C>T	c.(736-738)Cgc>Tgc	p.R246C		NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	246					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						CGGCTACAGCGTTCCACGGCT	0.592													G|||	1	0.000199681	0.0	0.0	5008	,	,		16037	0.001		0.0	False		,,,				2504	0.0															0													29	33	31					19																	11358812		1940	4127	6067	SO:0001583	missense	57572				CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.736C>T	chr19.hg19:g.11358812G>A	ENSP00000294618:p.Arg246Cys		A6H8X5|Q7Z7P4|Q9P2F2	Missense_Mutation	SNP	ENST00000294618.7	hg19	CCDS45975.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.960106	0.53400	.	.	ENSG00000130158	ENST00000294618	T	0.18502	2.21	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.43033	0.1229	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.66351	0.943	T	0.46247	-0.9205	10	0.66056	D	0.02	-27.3549	15.4991	0.75680	0.0:0.0:1.0:0.0	.	246	Q96HP0	DOCK6_HUMAN	C	246	ENSP00000294618:R246C	ENSP00000294618:R246C	R	-	1	0	DOCK6	11219812	1.000000	0.71417	0.998000	0.56505	0.431000	0.31685	2.251000	0.43187	2.240000	0.73641	0.462000	0.41574	CGC		0.592	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	NM_020812		A	11358812	G	A	11358812	3	1	803	1	0	0	0	0	1	0	0	0	4693	1145	40	1	5575	1	DOCK6	19	11358812	Missense_Mutation	SNP	G	TCGA-UZ-A9PO-01A-11D-A382-10	695867	11358812	47770171	83	47916											
ZNF799	90576	hgsc.bcm.edu	37	19	12502155	12502155	+	Missense_Mutation	SNP	T	T	G	rs201335235		TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr19:12502155T>G	ENST00000430385.3	-	4	1257	c.1057A>C	c.(1057-1059)Aaa>Caa	p.K353Q	ZNF799_ENST00000419318.1_Missense_Mutation_p.K321Q|CTD-3105H18.14_ENST00000435033.1_Intron	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	353					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						TCATGACTTTTCAGTGAACTA	0.413																																																0													160	156	157					19																	12502155		2203	4300	6503	SO:0001583	missense	90576			BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"Zinc fingers, C2H2-type", "-"	28071	protein-coding gene	gene with protein product			"zinc finger protein 842"	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.1057A>C	chr19.hg19:g.12502155T>G	ENSP00000411084:p.Lys353Gln			Missense_Mutation	SNP	ENST00000430385.3	hg19	CCDS45989.1	.	.	.	.	.	.	.	.	.	.	G	0.033	-1.323810	0.01309	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	T;T	0.04406	3.63;3.63	1.31	-1.61	0.08399	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02418	0.0074	N	0.12527	0.23	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.49041	-0.8980	9	0.14252	T	0.57	.	6.8386	0.23951	0.0:0.0:0.2963:0.7037	.	353	Q96GE5	ZN799_HUMAN	Q	321;353	ENSP00000415278:K321Q;ENSP00000411084:K353Q	ENSP00000415278:K321Q	K	-	1	0	ZNF799	12363155	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.687000	0.05156	-0.936000	0.03723	-1.919000	0.00516	AAA		0.413	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821		G	12502155	T	G	12502155	3	3	803	1	0	0	0	0	1	0	0	0	18171	1792	62	5	878	5	ZNF799	19	12502155	Missense_Mutation	SNP	T	TCGA-UZ-A9PO-01A-11D-A382-10	1143343	12502155	46626828	84	47917											
GLT25D1	79709	hgsc.bcm.edu	37	19	17670124	17670124	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr19:17670124G>A	ENST00000252599.4	+	2	385	c.265G>A	c.(265-267)Gct>Act	p.A89T		NM_024656.2	NP_078932.2	Q8NBJ5	GT251_HUMAN	collagen beta(1-O)galactosyltransferase 1	89					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	procollagen galactosyltransferase activity (GO:0050211)										CTGCAGGGTGGCTACGGACCA	0.612																																																0													133	97	109					19																	17670124		2129	4145	6274	SO:0001583	missense	79709			AK075541	CCDS12363.1	19p13.11	2013-02-27	2013-02-27	2013-02-27	ENSG00000130309	ENSG00000130309			26182	protein-coding gene	gene with protein product			"glycosyltransferase 25 domain containing 1"	GLT25D1		19075007	Standard	NM_024656		Approved	FLJ22329	uc002nhc.1	Q8NBJ5		ENST00000252599.4:c.265G>A	chr19.hg19:g.17670124G>A	ENSP00000252599:p.Ala89Thr		Q8NC64	Missense_Mutation	SNP	ENST00000252599.4	hg19	CCDS12363.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.811846	0.70797	.	.	ENSG00000130309	ENST00000252599	D	0.85171	-1.95	3.65	3.65	0.41850	.	0.116516	0.56097	D	0.000023	D	0.90140	0.6919	M	0.74546	2.27	0.58432	D	0.999999	D	0.56287	0.975	D	0.65573	0.936	D	0.88542	0.3110	10	0.27082	T	0.32	-16.0455	13.2343	0.59961	0.0:0.0:1.0:0.0	.	89	Q8NBJ5	GT251_HUMAN	T	89	ENSP00000252599:A89T	ENSP00000252599:A89T	A	+	1	0	GLT25D1	17531124	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.636000	0.98440	1.773000	0.52216	0.423000	0.28283	GCT		0.612	COLGALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464216.1	NM_024656		A	17670124	G	A	17670124	3	1	803	1	0	0	0	0	1	0	0	0	6468	1203	42	2	271	2	GLT25D1	19	17670124	Missense_Mutation	SNP	G	TCGA-UZ-A9PO-01A-11D-A382-10	5167969	17670124	41458859	85	47918											
ZNF536	9745	hgsc.bcm.edu	37	19	31039335	31039335	+	Nonsense_Mutation	SNP	A	A	T			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr19:31039335A>T	ENST00000355537.3	+	4	2956	c.2809A>T	c.(2809-2811)Aag>Tag	p.K937*		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	937					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)					GAAGGACATGAAGGACAAAGC	0.507																																																0													154	162	159					19																	31039335		2203	4300	6503	SO:0001587	stop_gained	9745				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"Zinc fingers, C2H2-type"	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.2809A>T	chr19.hg19:g.31039335A>T	ENSP00000347730:p.Lys937*		A2RU18	Nonsense_Mutation	SNP	ENST00000355537.3	hg19	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	A	36	5.608908	0.96637	.	.	ENSG00000198597	ENST00000355537	.	.	.	5.42	4.41	0.53225	.	0.210674	0.50627	D	0.000108	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-32.4704	11.24	0.48964	0.9279:0.0:0.0721:0.0	.	.	.	.	X	937	.	ENSP00000347730:K937X	K	+	1	0	ZNF536	35731175	1.000000	0.71417	0.897000	0.35233	0.918000	0.54935	4.613000	0.61176	0.890000	0.36211	0.402000	0.26972	AAG		0.507	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		T	31039335	A	T	31039335	4	4	803	1	0	0	0	0	0	1	0	0	17979	247	9	5	2819	5	ZNF536	19	31039335	Nonsense_Mutation	SNP	A	TCGA-UZ-A9PO-01A-11D-A382-10	13369211	31039335	28089648	86	47919											
GPATCH1	55094	hgsc.bcm.edu	37	19	33597758	33597758	+	Missense_Mutation	SNP	T	T	G			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr19:33597758T>G	ENST00000170564.2	+	10	1552	c.1238T>G	c.(1237-1239)cTg>cGg	p.L413R		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	413					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)					AAGCACCAACTGAATGCCTCC	0.493																																					Pancreas(67;88 1713 4567 18227)											0													102	78	86					19																	33597758		2203	4300	6503	SO:0001583	missense	55094			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.1238T>G	chr19.hg19:g.33597758T>G	ENSP00000170564:p.Leu413Arg		Q8IZV6|Q8N3B7|Q9NW94	Missense_Mutation	SNP	ENST00000170564.2	hg19	CCDS12428.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.411269	0.83340	.	.	ENSG00000076650	ENST00000170564	T	0.37915	1.17	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.65322	0.2680	M	0.87381	2.88	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.72117	-0.4387	10	0.72032	D	0.01	-9.9437	14.873	0.70474	0.0:0.0:0.0:1.0	.	413	Q9BRR8	GPTC1_HUMAN	R	413	ENSP00000170564:L413R	ENSP00000170564:L413R	L	+	2	0	GPATCH1	38289598	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.656000	0.74396	2.175000	0.68902	0.533000	0.62120	CTG		0.493	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450834.1	NM_018025		G	33597758	T	G	33597758	3	3	803	1	0	0	0	0	1	0	0	0	6592	1580	55	5	1276	5	GPATCH1	19	33597758	Missense_Mutation	SNP	T	TCGA-UZ-A9PO-01A-11D-A382-10	2558423	33597758	25531225	87	47920											
ZNF790	388536	hgsc.bcm.edu	37	19	37314679	37314679	+	Missense_Mutation	SNP	C	C	T			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr19:37314679C>T	ENST00000356725.4	-	3	143	c.23G>A	c.(22-24)aGg>aAg	p.R8K	CTD-2162K18.5_ENST00000587278.1_RNA|CTD-2162K18.5_ENST00000588906.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	8	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)			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AGCCACATCCCTGAACATCAT	0.388																																																0													76	75	75					19																	37314679		2203	4300	6503	SO:0001583	missense	388536			BC057245	CCDS12496.1	19q13.12	2013-01-08			ENSG00000197863	ENSG00000197863		"Zinc fingers, C2H2-type", "-"	33114	protein-coding gene	gene with protein product							Standard	NM_206894		Approved	MGC62100, FLJ20350	uc021utm.1	Q6PG37	OTTHUMG00000165616	ENST00000356725.4:c.23G>A	chr19.hg19:g.37314679C>T	ENSP00000349161:p.Arg8Lys			Missense_Mutation	SNP	ENST00000356725.4	hg19	CCDS12496.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.739068	0.49045	.	.	ENSG00000197863	ENST00000356725;ENST00000528994;ENST00000525288;ENST00000527645	T;T;T;T	0.01369	4.97;4.97;4.97;4.97	3.53	-0.991	0.10235	Krueppel-associated box (4);	.	.	.	.	T	0.01029	0.0034	N	0.25286	0.73	0.22127	N	0.999348	B	0.14012	0.009	B	0.18561	0.022	T	0.48422	-0.9037	9	0.10902	T	0.67	.	5.9232	0.19094	0.0:0.4735:0.0:0.5265	.	8	Q6PG37	ZN790_HUMAN	K	8	ENSP00000349161:R8K;ENSP00000435944:R8K;ENSP00000433389:R8K;ENSP00000434537:R8K	ENSP00000349161:R8K	R	-	2	0	ZNF790	42006519	0.025000	0.19082	0.467000	0.27180	0.667000	0.39255	-0.407000	0.07178	0.006000	0.14734	0.585000	0.79938	AGG		0.388	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385341.2	NM_206894		T	37314679	C	T	37314679	3	4	803	1	0	0	0	0	1	0	0	0	18167	681	24	2	1899	2	ZNF790	19	37314679	Missense_Mutation	SNP	C	TCGA-UZ-A9PO-01A-11D-A382-10	3716921	37314679	21814304	88	47921											
PLD3	23646	hgsc.bcm.edu	37	19	40883752	40883752	+	Missense_Mutation	SNP	C	C	G			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr19:40883752C>G	ENST00000409587.1	+	12	1642	c.1245C>G	c.(1243-1245)aaC>aaG	p.N415K	PLD3_ENST00000409419.1_Missense_Mutation_p.N415K|PLD3_ENST00000409281.1_Missense_Mutation_p.N415K|PLD3_ENST00000356508.5_Missense_Mutation_p.N415K|PLD3_ENST00000409735.4_Missense_Mutation_p.N415K			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	415	PLD phosphodiesterase 2. {ECO:0000255|PROSITE-ProRule:PRU00153}.				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)			CCCGTGTCAACCACAACAAGT	0.602																																																0													85	68	74					19																	40883752		2203	4300	6503	SO:0001583	missense	23646			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.1245C>G	chr19.hg19:g.40883752C>G	ENSP00000387050:p.Asn415Lys		Q92853|Q9BW87	Missense_Mutation	SNP	ENST00000409587.1	hg19	CCDS33027.1	.	.	.	.	.	.	.	.	.	.	C	19.81	3.896740	0.72639	.	.	ENSG00000105223	ENST00000409419;ENST00000409587;ENST00000356508;ENST00000409735;ENST00000409281	T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59	4.96	1.68	0.24146	Phospholipase D/Transphosphatidylase (2);	0.047083	0.85682	D	0.000000	T	0.68229	0.2978	M	0.92833	3.35	0.58432	D	0.999999	P	0.50819	0.939	P	0.55087	0.768	T	0.69480	-0.5134	10	0.72032	D	0.01	-12.6506	6.2698	0.20949	0.0:0.6146:0.0:0.3854	.	415	Q8IV08	PLD3_HUMAN	K	415	ENSP00000386293:N415K;ENSP00000387050:N415K;ENSP00000348901:N415K;ENSP00000386938:N415K;ENSP00000387022:N415K	ENSP00000348901:N415K	N	+	3	2	PLD3	45575592	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	1.648000	0.37271	0.609000	0.30018	-0.136000	0.14681	AAC		0.602	PLD3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327721.1	NM_012268		G	40883752	C	G	40883752	3	3	803	1	0	0	0	0	1	0	0	0	12049	506	18	4	1283	4	PLD3	19	40883752	Missense_Mutation	SNP	C	TCGA-UZ-A9PO-01A-11D-A382-10	3569073	40883752	18245231	89	47922											
PAFAH1B3	5050	hgsc.bcm.edu	37	19	42804227	42804227	+	Silent	SNP	C	C	T			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr19:42804227C>T	ENST00000262890.3	-	4	564	c.303G>A	c.(301-303)gtG>gtA	p.V101V	PRR19_ENST00000341747.3_5'Flank|PRR19_ENST00000598490.1_5'Flank|PAFAH1B3_ENST00000538771.1_Silent_p.V101V	NM_002573.3	NP_002564.1	Q15102	PA1B3_HUMAN	platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa)	101					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)				TGTTGGTGCCCACCCAGACCA	0.587																																																0													112	103	106					19																	42804227		2203	4300	6503	SO:0001819	synonymous_variant	5050			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.303G>A	chr19.hg19:g.42804227C>T			Q53X88	Silent	SNP	ENST00000262890.3	hg19	CCDS12602.1																																																																																				0.587	PAFAH1B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463726.1	NM_002573		T	42804227	C	T	42804227	2	4	803	1	0	0	0	0	0	0	0	1	11388	581	21	2		2	PAFAH1B3	19	42804227	Silent	SNP	C	TCGA-UZ-A9PO-01A-11D-A382-10	1920475	42804227	16324756	90	47923											
MEGF8	1954	hgsc.bcm.edu	37	19	42873075	42873075	+	Missense_Mutation	SNP	G	G	A	rs374088709		TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr19:42873075G>A	ENST00000251268.6	+	37	6562	c.6562G>A	c.(6562-6564)Gac>Aac	p.D2188N	MEGF8_ENST00000334370.4_Missense_Mutation_p.D2121N|MEGF8_ENST00000378073.4_5'Flank	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2188	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)				CGGGCACCACGACTGCAACGA	0.647																																																0								G	ASN/ASP	0,4406		0,0,2203	85	88	87		6361	4.8	1	19		87	1,8599	1.2+/-3.3	0,1,4299	no	missense	MEGF8	NM_001410.2	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	2121/2779	42873075	1,13005	2203	4300	6503	SO:0001583	missense	1954			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"HBV pre s2 binding protein 1"	604267	"EGF-like-domain, multiple 4", "chromosome 19 open reading frame 49"	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.6562G>A	chr19.hg19:g.42873075G>A	ENSP00000251268:p.Asp2188Asn		A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	hg19		.	.	.	.	.	.	.	.	.	.	G	8.552	0.875736	0.17395	0.0	1.16E-4	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.40756	1.02;1.02	4.76	4.76	0.60689	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.168758	0.39475	N	0.001349	T	0.17874	0.0429	N	0.01817	-0.705	0.80722	D	1	P;P	0.46327	0.499;0.876	B;B	0.39738	0.048;0.308	T	0.16958	-1.0385	10	0.08837	T	0.75	-29.0533	16.9259	0.86176	0.0:0.0:1.0:0.0	.	2188;2121	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	N	2121;2188	ENSP00000334219:D2121N;ENSP00000251268:D2188N	ENSP00000251268:D2188N	D	+	1	0	MEGF8	47564915	1.000000	0.71417	0.989000	0.46669	0.248000	0.25809	4.142000	0.58044	2.375000	0.81037	0.561000	0.74099	GAC		0.647	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		A	42873075	G	A	42873075	3	1	803	1	0	0	0	0	1	0	0	0	9465	1058	37	1	6503	1	MEGF8	19	42873075	Missense_Mutation	SNP	G	TCGA-UZ-A9PO-01A-11D-A382-10	68848	42873075	16255908	91	47924											
PTH2	113091	hgsc.bcm.edu	37	19	49926468	49926468	+	Splice_Site	SNP	C	C	A			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr19:49926468C>A	ENST00000270631.1	-	1	230		c.e1+1		CTD-3148I10.1_ENST00000576655.1_5'Flank	NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN	parathyroid hormone 2						neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)		CTGGCACCTACCTGAGGACCC	0.647																																																0													25	32	30					19																	49926468		2203	4298	6501	SO:0001630	splice_region_variant	113091			AY037555	CCDS12763.1	19q13.33	2013-02-28				ENSG00000142538		"Endogenous ligands"	30828	protein-coding gene	gene with protein product	"tuberoinfundibular 39 residues"	608386				11861531	Standard	NM_178449		Approved	TIP39	uc002pnn.1	Q96A98		ENST00000270631.1:c.128+1G>T	chr19.hg19:g.49926468C>A			Q96DJ4	Splice_Site	SNP	ENST00000270631.1	hg19	CCDS12763.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.213488	0.39102	.	.	ENSG00000142538	ENST00000270631	.	.	.	4.17	3.04	0.35103	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.6353	0.45560	0.1924:0.8076:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PTH2	54618280	1.000000	0.71417	0.901000	0.35422	0.274000	0.26718	1.941000	0.40233	2.047000	0.60756	0.306000	0.20318	.		0.647	PTH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465366.1	NM_178449	Intron	A	49926468	C	A	49926468	5	1	803	1	0	0	0	0	0	0	1	0	12765	521	18	4	181	4	PTH2	19	49926468	Splice_Site	SNP	C	TCGA-UZ-A9PO-01A-11D-A382-10	7053393	49926468	9202515	92	47925											
SCAF1	58506	hgsc.bcm.edu	37	19	50161046	50161046	+	Missense_Mutation	SNP	G	G	T			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr19:50161046G>T	ENST00000360565.3	+	10	3771	c.3647G>T	c.(3646-3648)cGg>cTg	p.R1216L	IRF3_ENST00000599680.1_5'Flank	NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	1216	Necessary for interaction with the CTD domain of POLR2A.				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)		ACGCAGGAGCGGGCGGTGGAG	0.587																																																0													68	49	56					19																	50161046		2203	4300	6503	SO:0001583	missense	58506			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.3647G>T	chr19.hg19:g.50161046G>T	ENSP00000353769:p.Arg1216Leu		Q7Z5V7|Q8WVA1|Q9NR59	Missense_Mutation	SNP	ENST00000360565.3	hg19	CCDS33074.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.159295	0.78226	.	.	ENSG00000126461	ENST00000360565	T	0.56103	0.48	5.2	4.16	0.48862	.	0.105611	0.36591	N	0.002502	T	0.65302	0.2678	M	0.62088	1.915	0.52501	D	0.999958	D	0.61080	0.989	P	0.60789	0.879	T	0.69487	-0.5132	10	0.87932	D	0	-18.7043	12.7901	0.57528	0.0803:0.0:0.9197:0.0	.	1216	Q9H7N4	SFR19_HUMAN	L	1216	ENSP00000353769:R1216L	ENSP00000353769:R1216L	R	+	2	0	SCAF1	54852858	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.326000	0.72905	1.426000	0.47256	0.637000	0.83480	CGG		0.587	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465764.1	NM_021228		T	50161046	G	T	50161046	3	4	803	1	0	0	0	0	1	0	0	0	13874	1116	39	4	3681	4	SCAF1	19	50161046	Missense_Mutation	SNP	G	TCGA-UZ-A9PO-01A-11D-A382-10	234578	50161046	8967937	93	47926											
PTOV1	53635	hgsc.bcm.edu	37	19	50357983	50357983	+	Silent	SNP	C	C	T	rs149977568		TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr19:50357983C>T	ENST00000601675.1	+	3	488	c.384C>T	c.(382-384)ggC>ggT	p.G128G	PTOV1_ENST00000391842.1_Silent_p.G128G|PTOV1_ENST00000599732.1_Silent_p.G128G|PTOV1_ENST00000221557.9_Silent_p.G96G|AC018766.6_ENST00000601211.1_RNA|PTOV1_ENST00000601638.1_Silent_p.G96G|MIR4749_ENST00000578197.1_RNA|PTOV1_ENST00000598325.1_3'UTR|PTOV1_ENST00000600603.1_Silent_p.G96G|AC018766.5_ENST00000593654.1_RNA			Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	128					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		TGAACCAAGGCGAGAACCTGT	0.667																																																0								C		0,4406		0,0,2203	41	41	41		384	0.8	1	19	dbSNP_134	41	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PTOV1	NM_017432.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		128/417	50357983	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	53635			AF238381	CCDS12782.1	19q13.33	2014-08-28	2008-09-12		ENSG00000104960	ENSG00000104960			9632	protein-coding gene	gene with protein product		610195				12598323, 15713644	Standard	XM_005258998		Approved		uc002pqf.1	Q86YD1	OTTHUMG00000183162	ENST00000601675.1:c.384C>T	chr19.hg19:g.50357983C>T			Q6UXX7|Q96BU3|Q9HBN4|Q9NYL1	Silent	SNP	ENST00000601675.1	hg19	CCDS12782.1																																																																																				0.667	PTOV1-007	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465347.1	NM_017432		T	50357983	C	T	50357983	2	4	803	1	0	0	0	0	0	0	0	1	12775	755	27	1		1	PTOV1	19	50357983	Silent	SNP	C	TCGA-UZ-A9PO-01A-11D-A382-10	196937	50357983	8771000	94	47927											
ZNF468	90333	hgsc.bcm.edu	37	19	53344638	53344638	+	Silent	SNP	T	T	C			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr19:53344638T>C	ENST00000595646.1	-	4	1029	c.909A>G	c.(907-909)gaA>gaG	p.E303E	ZNF468_ENST00000243639.4_3'UTR|ZNF468_ENST00000390651.4_Silent_p.E250E|ZNF468_ENST00000396409.4_Silent_p.E250E|ZNF28_ENST00000594602.1_Intron			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	303					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)		CTTTGTCACATTCTTCACATT	0.393																																																0													124	124	124					19																	53344638		2203	4300	6503	SO:0001819	synonymous_variant	90333			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.909A>G	chr19.hg19:g.53344638T>C			A8MV20|Q5CZB8|Q5VIY4|Q68DI7	Silent	SNP	ENST00000595646.1	hg19	CCDS33094.1																																																																																				0.393	ZNF468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463098.1	NM_001008801		C	53344638	T	C	53344638	2	2	803	1	0	0	0	0	0	0	0	1	17933	1490	52	3		3	ZNF468	19	53344638	Silent	SNP	T	TCGA-UZ-A9PO-01A-11D-A382-10	2986655	53344638	5784345	95	47928											
C20orf96	140680	hgsc.bcm.edu	37	20	270903	270903	+	Silent	SNP	A	A	T			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr20:270903A>T	ENST00000360321.2	-	2	204	c.66T>A	c.(64-66)gtT>gtA	p.V22V	C20orf96_ENST00000400269.3_Intron|C20orf96_ENST00000382369.5_Missense_Mutation_p.S27T	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	chromosome 20 open reading frame 96	22										endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			GACTCACCGGAACCTGGAACT	0.602																																																0													43	35	38					20																	270903		2203	4299	6502	SO:0001819	synonymous_variant	140680			AL034548	CCDS12994.1, CCDS74685.1	20p13	2012-10-30			ENSG00000196476	ENSG00000196476			16227	protein-coding gene	gene with protein product							Standard	NM_153269		Approved	dJ1103G7.2	uc002wde.2	Q9NUD7	OTTHUMG00000031626	ENST00000360321.2:c.66T>A	chr20.hg19:g.270903A>T			A3KPE0|B2RPH9|Q8N840|Q8NAX5	Silent	SNP	ENST00000360321.2	hg19	CCDS12994.1	.	.	.	.	.	.	.	.	.	.	A	9.570	1.120835	0.20877	.	.	ENSG00000196476	ENST00000382369	T	0.48201	0.82	3.72	1.3	0.21679	.	.	.	.	.	T	0.31199	0.0789	.	.	.	0.09310	N	0.999993	B;B	0.18461	0.028;0.028	B;B	0.19148	0.024;0.013	T	0.22556	-1.0213	8	0.45353	T	0.12	-8.7257	4.0059	0.09600	0.5699:0.2091:0.0:0.221	.	27;27	B7Z971;Q5JYC3	.;.	T	27	ENSP00000371806:S27T	ENSP00000371806:S27T	S	-	1	0	C20orf96	218903	0.042000	0.20092	0.001000	0.08648	0.004000	0.04260	0.982000	0.29539	0.240000	0.21263	0.454000	0.30748	TCC		0.602	C20orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077439.2	NM_153269		T	270903	A	T	270903	2	4	803	1	0	0	0	0	0	0	0	1	2124	233	9	5		5	C20orf96	20	270903	Silent	SNP	A	TCGA-UZ-A9PO-01A-11D-A382-10		270903	62754617	96	47929											
PI3	5266	hgsc.bcm.edu	37	20	43804687	43804687	+	Missense_Mutation	SNP	C	C	A			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr20:43804687C>A	ENST00000243924.3	+	2	312	c.265C>A	c.(265-267)Cct>Act	p.P89T		NM_002638.3	NP_002629.1	P19957	ELAF_HUMAN	peptidase inhibitor 3, skin-derived	89	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)				GTTGAATCCCCCTAACCGCTG	0.527																																																0													125	111	115					20																	43804687		2203	4300	6503	SO:0001583	missense	5266			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.265C>A	chr20.hg19:g.43804687C>A	ENSP00000243924:p.Pro89Thr		E1P618|Q6FG74	Missense_Mutation	SNP	ENST00000243924.3	hg19	CCDS13344.1	.	.	.	.	.	.	.	.	.	.	C	13.89	2.371223	0.42003	.	.	ENSG00000124102	ENST00000243924	T	0.21543	2.0	4.49	0.108	0.14548	Whey acidic protein, 4-disulphide core (5);	0.000000	0.42682	D	0.000668	T	0.28699	0.0711	M	0.77103	2.36	0.09310	N	1	D	0.52996	0.957	P	0.52646	0.705	T	0.11792	-1.0573	10	0.51188	T	0.08	.	3.0572	0.06188	0.3109:0.4474:0.1512:0.0906	.	89	P19957	ELAF_HUMAN	T	89	ENSP00000243924:P89T	ENSP00000243924:P89T	P	+	1	0	PI3	43238101	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	0.424000	0.21330	-0.037000	0.13646	0.650000	0.86243	CCT		0.527	PI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079418.3	NM_002638		A	43804687	C	A	43804687	3	1	803	1	0	0	0	0	1	0	0	0	11872	623	22	4	271	4	PI3	20	43804687	Missense_Mutation	SNP	C	TCGA-UZ-A9PO-01A-11D-A382-10	43533784	43804687	19220833	97	47930											
CASS4	57091	hgsc.bcm.edu	37	20	55028020	55028020	+	Missense_Mutation	SNP	G	G	C			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr20:55028020G>C	ENST00000360314.3	+	6	2013	c.1788G>C	c.(1786-1788)gaG>gaC	p.E596D	CASS4_ENST00000371336.3_Missense_Mutation_p.E596D|CASS4_ENST00000434344.1_Intron	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	596					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						AAAAGGAAGAGACTGTGCAGT	0.453																																																0													83	85	84					20																	55028020		2203	4300	6503	SO:0001583	missense	57091			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.1788G>C	chr20.hg19:g.55028020G>C	ENSP00000353462:p.Glu596Asp		E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Missense_Mutation	SNP	ENST00000360314.3	hg19	CCDS33492.1	.	.	.	.	.	.	.	.	.	.	G	8.770	0.925662	0.18056	.	.	ENSG00000087589	ENST00000360314;ENST00000371336	T;T	0.14640	2.49;2.49	6.08	0.544	0.17185	.	0.532223	0.21203	N	0.078421	T	0.08980	0.0222	L	0.29908	0.895	0.19775	N	0.999955	B;B;B	0.25048	0.011;0.096;0.117	B;B;B	0.31812	0.022;0.083;0.136	T	0.35871	-0.9771	10	0.23891	T	0.37	-13.133	5.4087	0.16336	0.0614:0.1971:0.2921:0.4494	.	542;596;596	B4DII4;Q9NQ75-2;Q9NQ75	.;.;CASS4_HUMAN	D	596	ENSP00000353462:E596D;ENSP00000360387:E596D	ENSP00000353462:E596D	E	+	3	2	CASS4	54461427	0.006000	0.16342	0.003000	0.11579	0.431000	0.31685	-0.032000	0.12266	-0.097000	0.12307	0.591000	0.81541	GAG		0.453	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079789.2	NM_020356		C	55028020	G	C	55028020	3	2	803	1	0	0	0	0	1	0	0	0	2685	933	33	4	1806	4	CASS4	20	55028020	Missense_Mutation	SNP	G	TCGA-UZ-A9PO-01A-11D-A382-10	11223333	55028020	7997500	98	47931											
CTCFL	140690	hgsc.bcm.edu	37	20	56098318	56098318	+	Missense_Mutation	SNP	T	T	C			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr20:56098318T>C	ENST00000608263.1	-	2	1221	c.560A>G	c.(559-561)gAg>gGg	p.E187G	CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000608425.1_Missense_Mutation_p.E187G|CTCFL_ENST00000608158.1_Missense_Mutation_p.E187G|CTCFL_ENST00000608858.1_Intron|CTCFL_ENST00000432255.2_Missense_Mutation_p.E187G|CTCFL_ENST00000422869.2_Missense_Mutation_p.E187G|CTCFL_ENST00000609232.1_Missense_Mutation_p.E187G|CTCFL_ENST00000608903.1_Intron|CTCFL_ENST00000539382.1_5'UTR|CTCFL_ENST00000608440.1_Missense_Mutation_p.E187G|CTCFL_ENST00000371196.2_Missense_Mutation_p.E187G|CTCFL_ENST00000429804.3_Missense_Mutation_p.E187G|CTCFL_ENST00000243914.3_Missense_Mutation_p.E187G|CTCFL_ENST00000423479.3_Missense_Mutation_p.E187G|CTCFL_ENST00000481655.2_Missense_Mutation_p.E187G|CTCFL_ENST00000433949.3_5'UTR	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	187					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)			CTGGTTCTTCTCCTGCTCTTC	0.353																																																0													109	107	108					20																	56098318		2202	4300	6502	SO:0001583	missense	140690				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.560A>G	chr20.hg19:g.56098318T>C	ENSP00000476783:p.Glu187Gly		A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Missense_Mutation	SNP	ENST00000608263.1	hg19	CCDS13459.1	.	.	.	.	.	.	.	.	.	.	T	15.18	2.758101	0.49468	.	.	ENSG00000124092	ENST00000423479;ENST00000243914;ENST00000371196;ENST00000429804;ENST00000433949;ENST00000422109;ENST00000426658;ENST00000432255;ENST00000422869	T;T;T;T;T;T;T;T;T	0.12569	2.67;2.69;2.69;2.85;2.73;3.0;2.71;3.3;2.74	4.43	-1.1	0.09872	.	0.000000	0.36665	N	0.002471	T	0.18299	0.0439	M	0.64997	1.995	0.09310	N	1	B;D;D;D;B;D;B;B	0.64830	0.005;0.994;0.986;0.988;0.006;0.986;0.006;0.006	B;P;P;P;B;P;B;B	0.57204	0.004;0.755;0.617;0.815;0.002;0.722;0.008;0.005	T	0.10086	-1.0645	10	0.30078	T	0.28	-5.3288	3.0409	0.06138	0.3026:0.1863:0.0:0.5111	.	187;187;187;187;187;187;187;187	A6XGM3;A6XGM0;A6XGM9;A6XGM8;A6XGM2;E7EUE3;A6XGL8;Q8NI51	.;.;.;.;.;.;.;CTCFL_HUMAN	G	187	ENSP00000415579:E187G;ENSP00000243914:E187G;ENSP00000360239:E187G;ENSP00000415329:E187G;ENSP00000392034:E187G;ENSP00000413713:E187G;ENSP00000403369:E187G;ENSP00000409344:E187G;ENSP00000399061:E187G	ENSP00000243914:E187G	E	-	2	0	CTCFL	55531724	0.001000	0.12720	0.001000	0.08648	0.003000	0.03518	0.332000	0.19751	0.112000	0.17975	-0.353000	0.07706	GAG		0.353	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618		C	56098318	T	C	56098318	3	2	803	1	0	0	0	0	1	0	0	0	4003	1551	54	3	1467	3	CTCFL	20	56098318	Missense_Mutation	SNP	T	TCGA-UZ-A9PO-01A-11D-A382-10	1070298	56098318	6927202	99	47932											
USP25	29761	hgsc.bcm.edu	37	21	17250242	17250242	+	Missense_Mutation	SNP	A	A	T			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr21:17250242A>T	ENST00000285679.6	+	23	3296	c.2927A>T	c.(2926-2928)gAa>gTa	p.E976V	USP25_ENST00000351097.5_Missense_Mutation_p.E371V|USP25_ENST00000400183.2_Missense_Mutation_p.E1046V|USP25_ENST00000285681.2_Missense_Mutation_p.E1008V	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	976					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)		GAAATGGAAGAAAAGGATATA	0.373																																																0													109	111	110					21																	17250242		2203	4300	6503	SO:0001583	missense	29761			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.2927A>T	chr21.hg19:g.17250242A>T	ENSP00000285679:p.Glu976Val		C0LSZ0|Q6DHZ9|Q9H9W1	Missense_Mutation	SNP	ENST00000285679.6	hg19	CCDS33515.1	.	.	.	.	.	.	.	.	.	.	A	16.80	3.222083	0.58560	.	.	ENSG00000155313	ENST00000285681;ENST00000285679;ENST00000351097;ENST00000400183	T;T;T;T	0.34472	1.77;1.78;1.36;1.77	5.67	4.52	0.55395	.	0.138081	0.64402	D	0.000004	T	0.49029	0.1533	L	0.51422	1.61	0.49483	D	0.999797	P;D;P;P	0.61697	0.868;0.99;0.696;0.938	B;P;B;B	0.61477	0.408;0.889;0.283;0.446	T	0.47302	-0.9128	10	0.62326	D	0.03	-14.8111	11.4049	0.49892	0.9285:0.0:0.0715:0.0	.	1046;371;1008;976	Q9UHP3-3;Q96B65;Q9UHP3-1;Q9UHP3	.;.;.;UBP25_HUMAN	V	1008;976;371;1046	ENSP00000285681:E1008V;ENSP00000285679:E976V;ENSP00000299574:E371V;ENSP00000383044:E1046V	ENSP00000285679:E976V	E	+	2	0	USP25	16172113	1.000000	0.71417	1.000000	0.80357	0.195000	0.23768	5.898000	0.69838	0.982000	0.38575	-0.297000	0.09499	GAA		0.373	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157964.1			T	17250242	A	T	17250242	3	4	803	1	0	0	0	0	1	0	0	0	17061	246	9	5	3017	5	USP25	21	17250242	Missense_Mutation	SNP	A	TCGA-UZ-A9PO-01A-11D-A382-10		17250242	30879653	100	47933											
TRPM2	7226	hgsc.bcm.edu	37	21	45789155	45789155	+	Missense_Mutation	SNP	G	G	C			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr21:45789155G>C	ENST00000397928.1	+	5	1145	c.700G>C	c.(700-702)Ggc>Cgc	p.G234R	TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000397932.2_Missense_Mutation_p.G234R|TRPM2_ENST00000300481.9_Missense_Mutation_p.G234R|TRPM2_ENST00000300482.5_Missense_Mutation_p.G234R	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	234					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						CTACAAGGAAGGCGAGCTCAT	0.682																																																0													55	47	50					21																	45789155		2203	4300	6503	SO:0001583	missense	7226			AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"Voltage-gated ion channels / Transient receptor potential cation channels", "Nudix motif containing"	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.700G>C	chr21.hg19:g.45789155G>C	ENSP00000381023:p.Gly234Arg		D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	hg19	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.116916	0.56505	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.04317	3.65;3.65;3.65;3.65	3.51	2.62	0.31277	.	0.137153	0.48286	U	0.000189	T	0.10637	0.0260	L	0.41236	1.265	0.36762	D	0.883366	D;D	0.76494	0.999;0.998	D;P	0.65684	0.937;0.901	T	0.09975	-1.0650	10	0.72032	D	0.01	-14.17	7.6316	0.28243	0.1987:0.0:0.8013:0.0	.	234;234	E9PGK7;O94759	.;TRPM2_HUMAN	R	234	ENSP00000300482:G234R;ENSP00000381023:G234R;ENSP00000300481:G234R;ENSP00000381026:G234R	ENSP00000300481:G234R	G	+	1	0	TRPM2	44613583	0.104000	0.21937	0.028000	0.17463	0.829000	0.46940	0.627000	0.24506	0.803000	0.34113	0.467000	0.42956	GGC		0.682	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		C	45789155	G	C	45789155	3	2	803	1	0	0	0	0	1	0	0	0	16591	1000	35	4	718	4	TRPM2	21	45789155	Missense_Mutation	SNP	G	TCGA-UZ-A9PO-01A-11D-A382-10	28538913	45789155	2340740	101	47934											
PIWIL3	440822	hgsc.bcm.edu	37	22	25158388	25158388	+	Missense_Mutation	SNP	G	G	T			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr22:25158388G>T	ENST00000332271.5	-	2	495	c.79C>A	c.(79-81)Ccc>Acc	p.P27T	PIWIL3_ENST00000527701.1_5'UTR|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_5'UTR	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	27					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						GGTGCTCTGGGTCCCCCAGGT	0.557																																																0													101	89	93					22																	25158388		2203	4300	6503	SO:0001583	missense	440822			AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"Argonaute/PIWI family"	18443	protein-coding gene	gene with protein product		610314	"piwi-like 3 (Drosophila)"			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.79C>A	chr22.hg19:g.25158388G>T	ENSP00000330031:p.Pro27Thr			Missense_Mutation	SNP	ENST00000332271.5	hg19	CCDS33623.1	.	.	.	.	.	.	.	.	.	.	G	7.407	0.633980	0.14322	.	.	ENSG00000184571	ENST00000332271	T	0.04406	3.63	1.01	-0.0703	0.13748	.	2.009740	0.03872	N	0.275757	T	0.02380	0.0073	N	0.16478	0.41	0.09310	N	0.999996	P;B	0.45531	0.86;0.347	B;B	0.28991	0.097;0.032	T	0.40270	-0.9572	10	0.25751	T	0.34	-1.0153	3.3689	0.07213	0.2945:0.0:0.7055:0.0	.	27;27	B4DYF7;Q7Z3Z3	.;PIWL3_HUMAN	T	27	ENSP00000330031:P27T	ENSP00000330031:P27T	P	-	1	0	PIWIL3	23488388	0.004000	0.15560	0.007000	0.13788	0.042000	0.13812	0.226000	0.17776	0.001000	0.14605	0.563000	0.77884	CCC		0.557	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2	NM_001008496		T	25158388	G	T	25158388	3	4	803	1	0	0	0	0	1	0	0	0	11961	1261	44	4	2649	4	PIWIL3	22	25158388	Missense_Mutation	SNP	G	TCGA-UZ-A9PO-01A-11D-A382-10		25158388	26146178	102	47935											
KCTD17	79734	hgsc.bcm.edu	37	22	37458580	37458581	+	Missense_Mutation	DNP	GG	GG	CT	rs377601872		TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr22:37458580_37458581GG>CT	ENST00000403888.3	+	9	913_914	c.912_913GG>CT	c.(910-915)gaGGca>gaCTca	p.304_305EA>DS	KCTD17_ENST00000402077.3_Missense_Mutation_p.280_281EA>DS	NM_001282684.1	NP_001269613.1	Q8N5Z5	KCD17_HUMAN	potassium channel tetramerization domain containing 17	304	Pro-rich.				protein homooligomerization (GO:0051260)		identical protein binding (GO:0042802)			NS(1)|breast(1)|endometrium(1)|lung(1)|prostate(1)	5						ACAAGCCAGAGGCACCCGGATG	0.604																																																0																																										SO:0001583	missense	79734			BC025403	CCDS13940.2, CCDS74854.1, CCDS74855.1	22q12.3	2013-06-20	2013-06-20		ENSG00000100379	ENSG00000100379			25705	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 17"			12477932	Standard	XM_005261741		Approved	FLJ12242	uc011amv.2	Q8N5Z5	OTTHUMG00000150532	Exception_encountered	chr22.hg19:g.37458580_37458581delinsCT	ENSP00000385096:p.E304_A305delinsDS		B0QYA9|B0QYB0|O95517	Missense_Mutation	SNP	ENST00000403888.3	hg19																																																																																					0.604	KCTD17-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000318781.1	NM_024681		CT	37458581	GG	CT	37458580	3	2	803	1	0	0	0	0	1	0	0	0	8106	991	35	4	870	4	KCTD17	22	37458580	Missense_Mutation	DNP	GG	TCGA-UZ-A9PO-01A-11D-A382-10	12300192	37458580	13845986	103	47936											
SLC16A8	23539	hgsc.bcm.edu	37	22	38476908	38476913	+	In_Frame_Del	DEL	ACTGGG	ACTGGG	-			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	ACTGGG	ACTGGG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chr22:38476908_38476913delACTGGG	ENST00000320521.5	-	4	1240_1245	c.1132_1137delCCCAGT	c.(1132-1137)cccagtdel	p.PS378del	SLC16A8_ENST00000469516.1_Intron	NM_013356.2	NP_037488.2	O95907	MOT3_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 8	378					blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|lactate transmembrane transport (GO:0035873)|lactate transport (GO:0015727)|leukocyte migration (GO:0050900)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lactate transmembrane transporter activity (GO:0015129)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			kidney(1)|large_intestine(1)|prostate(1)	3	Melanoma(58;0.045)				Pyruvic acid(DB00119)	GGCCCAGCGCACTGGGGAAGCGGGGC	0.723																																																0																																										SO:0001651	inframe_deletion	23539			AF132610	CCDS13966.1	22q12.3-q13.2	2013-07-18	2013-07-18		ENSG00000100156	ENSG00000100156		"Solute carriers"	16270	protein-coding gene	gene with protein product	"monocarboxylate transporter 3"	610409	"solute carrier 16 (monocarboxylic acid transporters), member 8"			10493836	Standard	NM_013356		Approved	MCT3, REMP	uc003auu.3	O95907	OTTHUMG00000151196	ENST00000320521.5:c.1132_1137delCCCAGT	chr22.hg19:g.38476908_38476913delACTGGG	ENSP00000321735:p.Pro378_Ser379del		Q9UBE2	In_Frame_Del	DEL	ENST00000320521.5	hg19	CCDS13966.1																																																																																				0.723	SLC16A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321724.1	NM_013356		-	38476913	ACTGGG	-	38476908	7	5	803	1	0	1	0	1	0	0	0	0	14420	156	6	0	385	0	SLC16A8	22	38476908	In_Frame_Del	DEL	ACTGGG	TCGA-UZ-A9PO-01A-11D-A382-10	1018328	38476908	12827658	104	47937											
TLR7	51284	hgsc.bcm.edu	37	X	12905654	12905654	+	Missense_Mutation	SNP	A	A	G			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chrX:12905654A>G	ENST00000380659.3	+	3	2166	c.2027A>G	c.(2026-2028)aAt>aGt	p.N676S		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	676					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)	ATGCCTCCAAATCTAAAGAAT	0.373																																																0													78	86	83					X																	12905654		2203	4300	6503	SO:0001583	missense	51284			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.2027A>G	chrX.hg19:g.12905654A>G	ENSP00000370034:p.Asn676Ser		D1CS69|Q9NR98	Missense_Mutation	SNP	ENST00000380659.3	hg19	CCDS14151.1	.	.	.	.	.	.	.	.	.	.	A	0.013	-1.631507	0.00813	.	.	ENSG00000196664	ENST00000380659	T	0.58210	0.35	5.46	3.07	0.35406	.	0.358388	0.28203	N	0.016219	T	0.20700	0.0498	N	0.03253	-0.375	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.31081	-0.9956	10	0.02654	T	1	.	5.7284	0.18026	0.6453:0.1306:0.2241:0.0	.	676	Q9NYK1	TLR7_HUMAN	S	676	ENSP00000370034:N676S	ENSP00000370034:N676S	N	+	2	0	TLR7	12815575	0.000000	0.05858	0.049000	0.19019	0.968000	0.65278	0.793000	0.26944	0.250000	0.21479	0.430000	0.28490	AAT		0.373	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562		G	12905654	A	G	12905654	3	3	803	1	0	0	0	0	1	0	0	0	15961	101	4	3	2033	3	TLR7	23	12905654	Missense_Mutation	SNP	A	TCGA-UZ-A9PO-01A-11D-A382-10		12905654	142364906	105	47938											
MAGED2	10916	hgsc.bcm.edu	37	X	54841870	54841870	+	Missense_Mutation	SNP	T	T	G			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chrX:54841870T>G	ENST00000375068.1	+	12	1809	c.1576T>G	c.(1576-1578)Tgg>Ggg	p.W526G	MAGED2_ENST00000375058.1_Missense_Mutation_p.W526G|MAGED2_ENST00000375062.4_Missense_Mutation_p.W441G|MAGED2_ENST00000347546.4_Missense_Mutation_p.W508G|MAGED2_ENST00000375053.2_Missense_Mutation_p.W526G|MAGED2_ENST00000396224.1_Missense_Mutation_p.W526G|MAGED2_ENST00000218439.4_Missense_Mutation_p.W526G|MAGED2_ENST00000375060.1_Missense_Mutation_p.W441G|SNORA11_ENST00000408789.1_RNA			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	526						membrane (GO:0016020)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						TATCGGACCCTGGGCCAAAGC	0.602																																																0													24	23	24					X																	54841870		2202	4300	6502	SO:0001583	missense	10916			AF128527	CCDS14362.1	Xp11.2	2008-08-01			ENSG00000102316	ENSG00000102316			16353	protein-coding gene	gene with protein product	"hepatocellular carcinoma associated protein", "breast cancer associated gene 1", "melanoma-associated antigen D2", "hepatocellular carcinoma-associated protein HCA10"	300470					Standard	NM_014599		Approved	JCL-1, BCG1, 11B6, MAGE-D2, HCA10, MAGED, MGC8386	uc004dtk.1	Q9UNF1	OTTHUMG00000021638	ENST00000375068.1:c.1576T>G	chrX.hg19:g.54841870T>G	ENSP00000364209:p.Trp526Gly		A6NMX0|O76058|Q5BJF3|Q8NAL6|Q9H218|Q9P0U9|Q9UM52	Missense_Mutation	SNP	ENST00000375068.1	hg19	CCDS14362.1	.	.	.	.	.	.	.	.	.	.	T	12.57	1.977243	0.34848	.	.	ENSG00000102316	ENST00000375068;ENST00000375053;ENST00000347546;ENST00000343474;ENST00000375062;ENST00000218439;ENST00000375058;ENST00000375060;ENST00000396224	T;T;T;T;T;T;T;T;T	0.42131	3.95;3.95;3.99;3.95;0.98;3.95;3.95;0.98;3.95	4.73	4.73	0.59995	.	0.000000	0.42682	D	0.000669	T	0.41073	0.1143	N	0.22421	0.69	0.33869	D	0.634786	D;D	0.65815	0.995;0.99	P;P	0.59115	0.795;0.852	T	0.49551	-0.8928	10	0.22109	T	0.4	.	9.941	0.41580	0.0:0.0:0.0:1.0	.	441;526	Q5H907;Q9UNF1	.;MAGD2_HUMAN	G	526;526;470;508;441;526;526;441;526	ENSP00000364209:W526G;ENSP00000364193:W526G;ENSP00000336962:W470G;ENSP00000340290:W508G;ENSP00000364202:W441G;ENSP00000218439:W526G;ENSP00000364198:W526G;ENSP00000364200:W441G;ENSP00000379526:W526G	ENSP00000218439:W526G	W	+	1	0	MAGED2	54858595	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.231000	0.43009	1.682000	0.51000	0.417000	0.27973	TGG		0.602	MAGED2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056821.2	NM_014599		G	54841870	T	G	54841870	3	3	803	1	0	0	0	0	1	0	0	0	9186	1580	55	5	1618	5	MAGED2	23	54841870	Missense_Mutation	SNP	T	TCGA-UZ-A9PO-01A-11D-A382-10	41936216	54841870	100428690	106	47939											
ABCD1	215	hgsc.bcm.edu	37	X	153005611	153005611	+	Silent	SNP	G	G	T			TCGA-UZ-A9PO-01A-11D-A382-10	TCGA-UZ-A9PO-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	72b12c65-5631-49f5-843b-4bc9f58ce902	41481a6b-9b6c-44cb-8db2-6b911dab119d	g.chrX:153005611G>T	ENST00000218104.3	+	6	1953	c.1554G>T	c.(1552-1554)cgG>cgT	p.R518R	U52111.14_ENST00000434284.1_RNA	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	518	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.		R -> Q (in ALD; CALD-type). {ECO:0000269|PubMed:11438993, ECO:0000269|PubMed:21700483}.|R -> W (in ALD; CALD-type). {ECO:0000269|PubMed:8040304}.		alpha-linolenic acid metabolic process (GO:0036109)|ATP catabolic process (GO:0006200)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|linoleic acid metabolic process (GO:0043651)|long-chain fatty acid catabolic process (GO:0042758)|peroxisomal long-chain fatty acid import (GO:0015910)|peroxisomal membrane transport (GO:0015919)|peroxisome organization (GO:0007031)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid catabolic process (GO:0042760)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|peroxisomal fatty-acyl-CoA transporter activity (GO:0005325)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCTGTTCCGGATCCTGGGTG	0.647																																																0													96	87	90					X																	153005611		2203	4300	6503	SO:0001819	synonymous_variant	215			Z21876	CCDS14728.1	Xq28	2012-03-14			ENSG00000101986	ENSG00000101986		"ATP binding cassette transporters / subfamily D"	61	protein-coding gene	gene with protein product		300371		ALD		8441467, 6795626	Standard	NM_000033		Approved	AMN, ALDP, adrenoleukodystrophy	uc004fif.2	P33897	OTTHUMG00000024215	ENST00000218104.3:c.1554G>T	chrX.hg19:g.153005611G>T			Q6GTZ2	Silent	SNP	ENST00000218104.3	hg19	CCDS14728.1	.	.	.	.	.	.	.	.	.	.	G	4.664	0.123534	0.08931	.	.	ENSG00000101986	ENST00000443684	.	.	.	4.93	-0.346	0.12620	.	.	.	.	.	T	0.50017	0.1591	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.32877	-0.9890	4	.	.	.	-23.4028	4.8323	0.13447	0.0853:0.4009:0.3745:0.1392	.	.	.	.	V	186	.	.	G	+	2	0	ABCD1	152658805	0.998000	0.40836	0.989000	0.46669	0.475000	0.33008	0.355000	0.20163	-0.429000	0.07329	-0.563000	0.04171	GGA		0.647	ABCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061041.1	NM_000033		T	153005611	G	T	153005611	2	4	803	1	0	0	0	0	0	0	0	1	60	1161	41	4		4	ABCD1	23	153005611	Silent	SNP	G	TCGA-UZ-A9PO-01A-11D-A382-10	98163741	153005611	2264949	107	47940											
SLC35E2	9906	hgsc.bcm.edu	37	1	1670432	1670432	+	Missense_Mutation	SNP	T	T	A			TCGA-UZ-A9PP-01A-11D-A42J-10	TCGA-UZ-A9PP-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b34905a0-79be-4958-821c-f27af735d65e	09c514d0-26ff-4e99-b400-1019a9243565	g.chr1:1670432T>A	ENST00000246421.4	-	3	802	c.387A>T	c.(385-387)ttA>ttT	p.L129F	SLC35E2_ENST00000355439.2_Missense_Mutation_p.L129F|SLC35E2_ENST00000400924.1_Missense_Mutation_p.L129F|RP1-283E3.8_ENST00000598846.1_RNA	NM_182838.2	NP_878258.1	P0CK97	S35E2_HUMAN	solute carrier family 35, member E2	129						integral component of membrane (GO:0016021)				endometrium(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	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)		TGTGCTGATATAAACAGCAAG	0.537																																																0													108	140	129					1																	1670432		2203	4298	6501	SO:0001583	missense	9906			AB007916	CCDS33.1, CCDS55560.1	1p36.33	2013-05-22			ENSG00000215790	ENSG00000215790		"Solute carriers"	20863	protein-coding gene	gene with protein product							Standard	NM_182838		Approved	KIAA0447	uc001aia.2	P0CK97	OTTHUMG00000000823	ENST00000246421.4:c.387A>T	chr1.hg19:g.1670432T>A	ENSP00000246421:p.Leu129Phe		B3KWR0|O75035|Q2TAY8|Q569F8|Q5CZA4|Q5QPR8|Q9Y3J8	Missense_Mutation	SNP	ENST00000246421.4	hg19	CCDS33.1	.	.	.	.	.	.	.	.	.	.	t	18.64	3.666694	0.67814	.	.	ENSG00000215790	ENST00000355439;ENST00000400924;ENST00000246421	D;D;D	0.95447	-3.71;-3.71;-3.71	2.89	-3.2	0.05156	Drug/metabolite transporter (1);	0.000000	0.56097	U	0.000040	D	0.94932	0.8361	M	0.67953	2.075	0.22954	N	0.998514	D;D	0.57899	0.957;0.981	P;P	0.54889	0.727;0.763	D	0.91334	0.5092	10	0.49607	T	0.09	-21.6831	11.2951	0.49274	0.0:0.8127:0.0:0.1873	.	129;129	P0CK97;P0CK97-2	S35E2_HUMAN;.	F	129	ENSP00000347614:L129F;ENSP00000383714:L129F;ENSP00000246421:L129F	ENSP00000246421:L129F	L	-	3	2	SLC35E2	1660292	0.925000	0.31364	0.949000	0.38748	0.955000	0.61496	0.050000	0.14120	-0.786000	0.04516	0.433000	0.28618	TTA		0.537	SLC35E2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000002210.3	XM_049733		A	1670432	T	A	1670432	3	1	804	1	0	0	0	0	1	0	0	0	14591	1403	49	5	1679	5	SLC35E2	1	1670432	Missense_Mutation	SNP	T	TCGA-UZ-A9PP-01A-11D-A42J-10		1670432	247580189	1	47941											
ICMT	23463	hgsc.bcm.edu	37	1	6285207	6285207	+	Missense_Mutation	SNP	T	T	A			TCGA-UZ-A9PP-01A-11D-A42J-10	TCGA-UZ-A9PP-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b34905a0-79be-4958-821c-f27af735d65e	09c514d0-26ff-4e99-b400-1019a9243565	g.chr1:6285207T>A	ENST00000343813.5	-	5	816	c.788A>T	c.(787-789)tAc>tTc	p.Y263F	ICMT_ENST00000495791.1_5'Flank	NM_012405.3	NP_036537.1	O60725	ICMT_HUMAN	isoprenylcysteine carboxyl methyltransferase	263					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)		ATACTCCAGGTACTCCTCTCC	0.562																																																0													99	106	104					1																	6285207		2203	4300	6503	SO:0001583	missense	23463			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.788A>T	chr1.hg19:g.6285207T>A	ENSP00000343552:p.Tyr263Phe		Q6FHT0	Missense_Mutation	SNP	ENST00000343813.5	hg19	CCDS61.1	.	.	.	.	.	.	.	.	.	.	T	33	5.239596	0.95240	.	.	ENSG00000116237	ENST00000343813;ENST00000535068	.	.	.	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	D	0.84056	0.5388	M	0.86805	2.84	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86757	0.1964	9	0.72032	D	0.01	.	15.482	0.75534	0.0:0.0:0.0:1.0	.	263	O60725	ICMT_HUMAN	F	263;167	.	ENSP00000343552:Y263F	Y	-	2	0	ICMT	6207794	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.438000	0.80431	2.246000	0.74042	0.533000	0.62120	TAC		0.562	ICMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003681.1	NM_012405		A	6285207	T	A	6285207	3	1	804	1	0	0	0	0	1	0	0	0	7487	1638	57	5	70	5	ICMT	1	6285207	Missense_Mutation	SNP	T	TCGA-UZ-A9PP-01A-11D-A42J-10	4614775	6285207	242965414	2	47942											
KLHDC7A	127707	hgsc.bcm.edu	37	1	18808387	18808387	+	Silent	SNP	C	C	A			TCGA-UZ-A9PP-01A-11D-A42J-10	TCGA-UZ-A9PP-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b34905a0-79be-4958-821c-f27af735d65e	09c514d0-26ff-4e99-b400-1019a9243565	g.chr1:18808387C>A	ENST00000400664.1	+	1	964	c.912C>A	c.(910-912)ggC>ggA	p.G304G		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	304						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)		TCTTCCAGGGCAGGCTGGCTC	0.632																																																0													48	46	47					1																	18808387		2203	4300	6503	SO:0001819	synonymous_variant	127707			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.912C>A	chr1.hg19:g.18808387C>A			Q8N8W6	Silent	SNP	ENST00000400664.1	hg19	CCDS185.2																																																																																				0.632	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	NM_152375		A	18808387	C	A	18808387	2	1	804	1	0	0	0	0	0	0	0	1	8362	697	25	4		4	KLHDC7A	1	18808387	Silent	SNP	C	TCGA-UZ-A9PP-01A-11D-A42J-10	12523180	18808387	230442234	3	47943											
LEPRE1	64175	hgsc.bcm.edu	37	1	43224941	43224941	+	Missense_Mutation	SNP	C	C	T			TCGA-UZ-A9PP-01A-11D-A42J-10	TCGA-UZ-A9PP-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b34905a0-79be-4958-821c-f27af735d65e	09c514d0-26ff-4e99-b400-1019a9243565	g.chr1:43224941C>T	ENST00000296388.5	-	3	790	c.739G>A	c.(739-741)Gaa>Aaa	p.E247K	LEPRE1_ENST00000236040.4_Missense_Mutation_p.E247K|LEPRE1_ENST00000397054.3_Missense_Mutation_p.E247K			Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	247					bone development (GO:0060348)|cell growth (GO:0016049)|chaperone-mediated protein folding (GO:0061077)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|negative regulation of post-translational protein modification (GO:1901874)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein hydroxylation (GO:0018126)|protein stabilization (GO:0050821)|regulation of ossification (GO:0030278)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|macromolecular complex (GO:0032991)|membrane (GO:0016020)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)|protein complex binding (GO:0032403)			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TAGGGCCCTTCGCAGAGGGCA	0.577																																																0													112	102	106					1																	43224941		2203	4300	6503	SO:0001583	missense	64175			AK027648	CCDS472.2, CCDS53307.1, CCDS57986.1	1p34.1	2014-09-17			ENSG00000117385	ENSG00000117385			19316	protein-coding gene	gene with protein product	"prolyl 3-hydroxylase 1", "growth suppressor 1"	610339				10951563	Standard	NM_022356		Approved	GROS1, P3H1, LEPRECAN, MGC117314	uc001chx.4	Q32P28	OTTHUMG00000007525	ENST00000296388.5:c.739G>A	chr1.hg19:g.43224941C>T	ENSP00000296388:p.Glu247Lys		Q7KZR4|Q96BR8|Q96SK8|Q96SL5|Q96SN3|Q9H6K3|Q9HC86|Q9HC87	Missense_Mutation	SNP	ENST00000296388.5	hg19	CCDS472.2	.	.	.	.	.	.	.	.	.	.	C	36	5.747510	0.96882	.	.	ENSG00000117385	ENST00000397054;ENST00000236040;ENST00000296388;ENST00000540027;ENST00000372526	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.85410	0.5690	M	0.89715	3.055	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.996	D	0.87957	0.2727	10	0.87932	D	0	-23.3075	17.3244	0.87243	0.0:1.0:0.0:0.0	.	247;112;247	Q32P28-3;B4DNM8;Q32P28	.;.;P3H1_HUMAN	K	247;247;247;112;204	ENSP00000380245:E247K;ENSP00000236040:E247K;ENSP00000296388:E247K;ENSP00000361604:E204K	ENSP00000236040:E247K	E	-	1	0	LEPRE1	42997528	1.000000	0.71417	0.995000	0.50966	0.867000	0.49689	7.298000	0.78815	2.682000	0.91365	0.563000	0.77884	GAA		0.577	LEPRE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019790.2	NM_022356		T	43224941	C	T	43224941	3	4	804	1	0	0	0	0	1	0	0	0	8731	893	31	1	1542	1	LEPRE1	1	43224941	Missense_Mutation	SNP	C	TCGA-UZ-A9PP-01A-11D-A42J-10	24416554	43224941	206025680	4	47944											
BCAR3	8412	hgsc.bcm.edu	37	1	94048486	94048486	+	Missense_Mutation	SNP	G	G	C			TCGA-UZ-A9PP-01A-11D-A42J-10	TCGA-UZ-A9PP-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b34905a0-79be-4958-821c-f27af735d65e	09c514d0-26ff-4e99-b400-1019a9243565	g.chr1:94048486G>C	ENST00000370244.1	-	9	1346	c.1058C>G	c.(1057-1059)tCg>tGg	p.S353W	BCAR3_ENST00000466632.1_5'UTR|BCAR3_ENST00000370247.3_Missense_Mutation_p.S262W|BCAR3_ENST00000260502.6_Missense_Mutation_p.S353W|BCAR3_ENST00000539242.1_Missense_Mutation_p.S29W|BCAR3_ENST00000370243.1_Missense_Mutation_p.S353W	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	353					lens morphogenesis in camera-type eye (GO:0002089)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		GTCCACACCCGAGGACTGAGG	0.567																																																0													35	37	36					1																	94048486		2199	4296	6495	SO:0001583	missense	8412			U92715	CCDS745.1, CCDS58010.1	1p22.1	2013-02-14			ENSG00000137936	ENSG00000137936		"SH2 domain containing"	973	protein-coding gene	gene with protein product		604704				9582273	Standard	NM_001261408		Approved	NSP2, SH2D3B	uc001dpz.4	O75815	OTTHUMG00000010301	ENST00000370244.1:c.1058C>G	chr1.hg19:g.94048486G>C	ENSP00000359264:p.Ser353Trp		D3DT43|Q5TEW3|Q6UW40|Q9BR50	Missense_Mutation	SNP	ENST00000370244.1	hg19	CCDS745.1	.	.	.	.	.	.	.	.	.	.	G	7.432	0.638822	0.14386	.	.	ENSG00000137936	ENST00000370247;ENST00000260502;ENST00000370244;ENST00000370243;ENST00000539242	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	5.16	2.18	0.27775	.	0.617466	0.17140	N	0.185513	T	0.19565	0.0470	N	0.19112	0.55	0.09310	N	1	P;P;D	0.54772	0.923;0.95;0.968	B;P;B	0.49085	0.346;0.6;0.346	T	0.03514	-1.1029	10	0.72032	D	0.01	-11.4446	5.4129	0.16358	0.1485:0.0:0.5671:0.2844	.	133;353;262	B3KNL6;O75815;Q5TEW3	.;BCAR3_HUMAN;.	W	262;353;353;353;29	ENSP00000359267:S262W;ENSP00000260502:S353W;ENSP00000359264:S353W;ENSP00000359263:S353W;ENSP00000441343:S29W	ENSP00000260502:S353W	S	-	2	0	BCAR3	93821074	0.175000	0.23083	0.004000	0.12327	0.179000	0.23085	1.152000	0.31663	0.657000	0.30906	0.655000	0.94253	TCG		0.567	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028420.1			C	94048486	G	C	94048486	3	2	804	1	0	0	0	0	1	0	0	0	1349	1059	37	4	1443	4	BCAR3	1	94048486	Missense_Mutation	SNP	G	TCGA-UZ-A9PP-01A-11D-A42J-10	50823545	94048486	155202135	5	47945											
ZBTB7B	51043	hgsc.bcm.edu	37	1	154987953	154987953	+	Missense_Mutation	SNP	T	T	A			TCGA-UZ-A9PP-01A-11D-A42J-10	TCGA-UZ-A9PP-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b34905a0-79be-4958-821c-f27af735d65e	09c514d0-26ff-4e99-b400-1019a9243565	g.chr1:154987953T>A	ENST00000368426.3	+	3	954	c.817T>A	c.(817-819)Tat>Aat	p.Y273N	ZBTB7B_ENST00000292176.2_Missense_Mutation_p.Y273N|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.Y307N|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.Y273N	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	273					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)			CTACGAACCCTATGAGGGTGA	0.672																																																0													35	36	35					1																	154987953		2201	4300	6501	SO:0001583	missense	51043			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.817T>A	chr1.hg19:g.154987953T>A	ENSP00000357411:p.Tyr273Asn		B4E3K5|D3DV83|J3KQQ3|Q68DR2|Q96EP2	Missense_Mutation	SNP	ENST00000368426.3	hg19	CCDS1081.1	.	.	.	.	.	.	.	.	.	.	T	10.95	1.494967	0.26774	.	.	ENSG00000160685	ENST00000535420;ENST00000368426;ENST00000417934;ENST00000292176	T;T;T;T	0.09350	3.02;3.02;2.99;3.02	4.3	4.3	0.51218	.	0.830066	0.10696	N	0.644657	T	0.02848	0.0085	N	0.24115	0.695	0.18873	N	0.999987	B;B;B	0.22604	0.021;0.072;0.021	B;B;B	0.19666	0.026;0.018;0.026	T	0.40232	-0.9574	10	0.30078	T	0.28	.	11.4451	0.50118	0.0:0.0:0.0:1.0	.	273;273;307	A8K6F4;O15156;B4E3K5	.;ZBT7B_HUMAN;.	N	273;273;307;273	ENSP00000438647:Y273N;ENSP00000357411:Y273N;ENSP00000406286:Y307N;ENSP00000292176:Y273N	ENSP00000292176:Y273N	Y	+	1	0	ZBTB7B	153254577	0.000000	0.05858	0.824000	0.32777	0.815000	0.46073	-0.170000	0.09897	1.808000	0.52836	0.379000	0.24179	TAT		0.672	ZBTB7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091083.1	NM_015872		A	154987953	T	A	154987953	3	1	804	1	0	0	0	0	1	0	0	0	17559	1522	53	5	819	5	ZBTB7B	1	154987953	Missense_Mutation	SNP	T	TCGA-UZ-A9PP-01A-11D-A42J-10	60939467	154987953	94262668	6	47946											
RC3H1	149041	hgsc.bcm.edu	37	1	173921219	173921219	+	Missense_Mutation	SNP	A	A	G			TCGA-UZ-A9PP-01A-11D-A42J-10	TCGA-UZ-A9PP-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b34905a0-79be-4958-821c-f27af735d65e	09c514d0-26ff-4e99-b400-1019a9243565	g.chr1:173921219A>G	ENST00000367696.2	-	14	2779	c.2428T>C	c.(2428-2430)Tac>Cac	p.Y810H	RC3H1_ENST00000258349.4_Missense_Mutation_p.Y810H|RC3H1_ENST00000367694.2_Missense_Mutation_p.Y810H			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	810					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						CAGGGAGAGTATTGGCTATAA	0.393																																																0													141	126	131					1																	173921219		2203	4300	6503	SO:0001583	missense	149041			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.2428T>C	chr1.hg19:g.173921219A>G	ENSP00000356669:p.Tyr810His		B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Missense_Mutation	SNP	ENST00000367696.2	hg19	CCDS30940.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.209630	0.79240	.	.	ENSG00000135870	ENST00000367696;ENST00000258349;ENST00000367694	T;T;T	0.61158	0.14;0.14;0.13	5.92	4.77	0.60923	.	0.162470	0.56097	D	0.000025	T	0.62134	0.2403	L	0.55481	1.735	0.53005	D	0.999963	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	D;D;D;D	0.85130	0.994;0.994;0.997;0.994	T	0.67252	-0.5717	10	0.66056	D	0.02	-8.6265	12.306	0.54902	0.873:0.0:0.0:0.127	.	810;810;810;810	B9EGU6;B7ZMB3;Q5TC82-2;Q5TC82	.;.;.;RC3H1_HUMAN	H	810	ENSP00000356669:Y810H;ENSP00000258349:Y810H;ENSP00000356667:Y810H	ENSP00000258349:Y810H	Y	-	1	0	RC3H1	172187842	1.000000	0.71417	0.728000	0.30774	0.978000	0.69477	8.962000	0.93254	1.011000	0.39340	0.477000	0.44152	TAC		0.393	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090733.2	NM_172071		G	173921219	A	G	173921219	3	3	804	1	0	0	0	0	1	0	0	0	13172	449	16	3	1001	3	RC3H1	1	173921219	Missense_Mutation	SNP	A	TCGA-UZ-A9PP-01A-11D-A42J-10	18933266	173921219	75329402	7	47947											
LRRN2	10446	hgsc.bcm.edu	37	1	204587083	204587083	+	Missense_Mutation	SNP	G	G	A	rs535832685		TCGA-UZ-A9PP-01A-11D-A42J-10	TCGA-UZ-A9PP-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b34905a0-79be-4958-821c-f27af735d65e	09c514d0-26ff-4e99-b400-1019a9243565	g.chr1:204587083G>A	ENST00000367175.1	-	1	4250	c.2038C>T	c.(2038-2040)Cgg>Tgg	p.R680W	RP11-430C7.4_ENST00000453895.1_RNA|LRRN2_ENST00000367176.3_Missense_Mutation_p.R680W|LRRN2_ENST00000367177.3_Missense_Mutation_p.R680W|LRRN2_ENST00000496057.1_5'Flank			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	680					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GACACAACCCGGACAGAAGGG	0.632													G|||	1	0.000199681	0.0	0.0014	5008	,	,		14704	0.0		0.0	False		,,,				2504	0.0															0													70	77	75					1																	204587083		2203	4300	6503	SO:0001583	missense	10446			AF030435	CCDS1448.1	1q32.1	2013-01-11	2007-01-31	2007-01-31	ENSG00000170382	ENSG00000170382		"Immunoglobulin superfamily / I-set domain containing"	16914	protein-coding gene	gene with protein product	"leucine rich and ankyrin repeats 1", "fibronectin type III, immunoglobulin and leucine rich repeat domain 7"	605492	"leucine rich repeat neuronal 5"	LRRN5		9662332	Standard	NM_006338		Approved	GAC1, LRANK1, FIGLER7	uc001hbf.1	O75325	OTTHUMG00000035989	ENST00000367175.1:c.2038C>T	chr1.hg19:g.204587083G>A	ENSP00000356143:p.Arg680Trp		B2R624|Q5T0Y0|Q6UXM0|Q8N182	Missense_Mutation	SNP	ENST00000367175.1	hg19	CCDS1448.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.390987	0.62066	.	.	ENSG00000170382	ENST00000367176;ENST00000367177;ENST00000367175	T;T;T	0.62364	0.03;0.03;0.03	4.94	4.03	0.46877	.	0.240456	0.21555	N	0.072663	T	0.41119	0.1145	N	0.08118	0	0.43390	D	0.9955	B	0.19073	0.033	B	0.15484	0.013	T	0.35822	-0.9773	10	0.72032	D	0.01	.	10.4288	0.44395	0.0917:0.0:0.9083:0.0	.	680	O75325	LRRN2_HUMAN	W	680	ENSP00000356144:R680W;ENSP00000356145:R680W;ENSP00000356143:R680W	ENSP00000356143:R680W	R	-	1	2	LRRN2	202853706	0.731000	0.28111	0.820000	0.32676	0.525000	0.34531	4.080000	0.57620	1.316000	0.45131	0.561000	0.74099	CGG		0.632	LRRN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089894.1	NM_006338		A	204587083	G	A	204587083	3	1	804	1	0	0	0	0	1	0	0	0	9037	1115	39	1	107	1	LRRN2	1	204587083	Missense_Mutation	SNP	G	TCGA-UZ-A9PP-01A-11D-A42J-10	30665864	204587083	44663538	8	47948											
OBSCN	84033	hgsc.bcm.edu	37	1	228509045	228509045	+	Splice_Site	SNP	G	G	A			TCGA-UZ-A9PP-01A-11D-A42J-10	TCGA-UZ-A9PP-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b34905a0-79be-4958-821c-f27af735d65e	09c514d0-26ff-4e99-b400-1019a9243565	g.chr1:228509045G>A	ENST00000422127.1	+	55	14547	c.14503G>A	c.(14503-14505)Gtt>Att	p.V4835I	OBSCN_ENST00000570156.2_Splice_Site_p.V5792I|OBSCN_ENST00000366709.4_Splice_Site_p.V1954I|OBSCN_ENST00000366707.4_Splice_Site_p.V2469I|OBSCN_ENST00000284548.11_Splice_Site_p.V4835I	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4835					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)				GTGCCCACAGGTTGGGGCCCC	0.632																																																0													17	18	18					1																	228509045		1977	4147	6124	SO:0001630	splice_region_variant	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.14503-1G>A	chr1.hg19:g.228509045G>A			Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	hg19	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	14.54	2.565516	0.45694	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.62364	0.42;0.03;0.06;0.56	4.68	1.25	0.21368	.	1.586350	0.03728	N	0.252908	T	0.47002	0.1422	N	0.19112	0.55	0.19300	N	0.999973	B;B	0.06786	0.001;0.001	B;B	0.10450	0.002;0.005	T	0.23154	-1.0196	9	.	.	.	.	7.4965	0.27492	0.0967:0.4639:0.4394:0.0	.	4835;4835	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	I	4835;4835;2469;1954	ENSP00000284548:V4835I;ENSP00000409493:V4835I;ENSP00000355668:V2469I;ENSP00000355670:V1954I	.	V	+	1	0	OBSCN	226575668	0.647000	0.27304	0.073000	0.20177	0.062000	0.15995	0.764000	0.26532	0.057000	0.16193	0.563000	0.77884	GTT		0.632	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	Missense_Mutation	A	228509045	G	A	228509045	5	1	804	1	0	0	0	0	0	0	1	0	10814	1275	44	2	14717	2	OBSCN	1	228509045	Splice_Site	SNP	G	TCGA-UZ-A9PP-01A-11D-A42J-10	23921962	228509045	20741576	9	47949											
SPTBN1	6711	hgsc.bcm.edu	37	2	54873419	54873419	+	Missense_Mutation	SNP	T	T	G			TCGA-UZ-A9PP-01A-11D-A42J-10	TCGA-UZ-A9PP-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b34905a0-79be-4958-821c-f27af735d65e	09c514d0-26ff-4e99-b400-1019a9243565	g.chr2:54873419T>G	ENST00000356805.4	+	23	4954	c.4673T>G	c.(4672-4674)cTc>cGc	p.L1558R	SPTBN1_ENST00000333896.5_Missense_Mutation_p.L1545R	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1558					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)			AGCAGCAGCCTCAGCGCTGAG	0.597																																																0													59	64	62					2																	54873419		2203	4300	6503	SO:0001583	missense	6711				CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"Pleckstrin homology (PH) domain containing"	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.4673T>G	chr2.hg19:g.54873419T>G	ENSP00000349259:p.Leu1558Arg		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	hg19	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	T	8.805	0.933832	0.18206	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	T;T	0.49432	0.78;0.78	5.8	0.634	0.17718	.	0.327233	0.33496	N	0.004851	T	0.35128	0.0921	L	0.42245	1.32	0.26816	N	0.968888	B;B	0.17465	0.0;0.022	B;B	0.24006	0.0;0.05	T	0.28235	-1.0050	10	0.15952	T	0.53	.	10.3045	0.43672	0.0:0.379:0.0:0.621	.	1545;1558	Q01082-3;Q01082	.;SPTB2_HUMAN	R	1558;1545	ENSP00000349259:L1558R;ENSP00000334156:L1545R	ENSP00000334156:L1545R	L	+	2	0	SPTBN1	54726923	0.578000	0.26717	0.502000	0.27614	0.792000	0.44763	1.002000	0.29796	-0.101000	0.12219	-0.366000	0.07423	CTC		0.597	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			G	54873419	T	G	54873419	3	3	804	1	0	0	0	0	1	0	0	0	15124	1551	54	5	4872	5	SPTBN1	2	54873419	Missense_Mutation	SNP	T	TCGA-UZ-A9PP-01A-11D-A42J-10		54873419	188325954	10	47950											
POLR1A	25885	hgsc.bcm.edu	37	2	86297161	86297161	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UZ-A9PP-01A-11D-A42J-10	TCGA-UZ-A9PP-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b34905a0-79be-4958-821c-f27af735d65e	09c514d0-26ff-4e99-b400-1019a9243565	g.chr2:86297161G>A	ENST00000263857.6	-	13	2224	c.1846C>T	c.(1846-1848)Cag>Tag	p.Q616*	POLR1A_ENST00000409681.1_Nonsense_Mutation_p.Q616*			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	616					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						AGGTACTGCTGATCAGTGCAG	0.577																																																0													36	39	38					2																	86297161		2051	4179	6230	SO:0001587	stop_gained	25885			AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"RNA polymerase subunits"	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.1846C>T	chr2.hg19:g.86297161G>A	ENSP00000263857:p.Gln616*		B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Nonsense_Mutation	SNP	ENST00000263857.6	hg19	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	G	42	9.370452	0.99151	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	.	.	.	5.3	4.4	0.53042	.	0.172789	0.51477	D	0.000098	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-22.8516	8.3408	0.32243	0.0:0.3834:0.4874:0.1292	.	.	.	.	X	616	.	ENSP00000263857:Q616X	Q	-	1	0	POLR1A	86150672	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	4.626000	0.61269	2.479000	0.83701	0.655000	0.94253	CAG		0.577	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		A	86297161	G	A	86297161	4	1	804	1	0	0	0	0	0	1	0	0	12211	1299	45	2	3404	2	POLR1A	2	86297161	Nonsense_Mutation	SNP	G	TCGA-UZ-A9PP-01A-11D-A42J-10	31423742	86297161	156902212	11	47951											
VPS24	51652	hgsc.bcm.edu	37	2	86769412	86769412	+	Missense_Mutation	SNP	T	T	C	rs540948421		TCGA-UZ-A9PP-01A-11D-A42J-10	TCGA-UZ-A9PP-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b34905a0-79be-4958-821c-f27af735d65e	09c514d0-26ff-4e99-b400-1019a9243565	g.chr2:86769412T>C	ENST00000263856.4	-	2	197	c.69A>G	c.(67-69)atA>atG	p.I23M	CHMP3_ENST00000439940.2_Missense_Mutation_p.I52M|CHMP3_ENST00000409225.2_Intron|CHMP3_ENST00000409727.1_Missense_Mutation_p.I23M|RNF103-CHMP3_ENST00000604011.1_Missense_Mutation_p.I52M	NM_001193517.1|NM_016079.3	NP_001180446.1|NP_057163.1	Q9Y3E7	CHMP3_HUMAN	charged multivesicular body protein 3	23	Intramolecular interaction with C- terminus.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|endosomal transport (GO:0016197)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)											TTTCCTTTCTTATCTTCAATG	0.323																																																0													119	113	115					2																	86769412		2203	4298	6501	SO:0001583	missense	100526767			AF219226	CCDS33236.1, CCDS42707.1, CCDS54375.1	2p11.2	2011-09-21	2011-09-21	2011-09-21	ENSG00000115561	ENSG00000115561		"Charged multivesicular body proteins"	29865	protein-coding gene	gene with protein product		610052	"vacuolar protein sorting 24 (yeast)", "vacuolar protein sorting 24 homolog (S. cerevisiae)"	VPS24		11549700, 12878588	Standard	NM_016079		Approved	NEDF, CGI-149		Q9Y3E7	OTTHUMG00000153189	ENST00000263856.4:c.69A>G	chr2.hg19:g.86769412T>C	ENSP00000263856:p.Ile23Met		A8K3W0|B4DG34|B8ZZM0|B8ZZX5|Q3ZTS9|Q53S71|Q53SU5|Q9NZ51	Missense_Mutation	SNP	ENST00000263856.4	hg19	CCDS33236.1	.	.	.	.	.	.	.	.	.	.	T	13.98	2.397581	0.42512	.	.	ENSG00000115561;ENSG00000115561;ENSG00000115561;ENSG00000249884	ENST00000263856;ENST00000409727;ENST00000439940;ENST00000440757	T;D;T;T	0.89196	-0.73;-2.48;-0.73;-0.73	5.39	-0.595	0.11660	.	0.045218	0.85682	D	0.000000	D	0.87180	0.6113	L	0.56280	1.765	0.51767	D	0.999938	B;P;B	0.43701	0.159;0.815;0.064	B;P;B	0.46389	0.091;0.515;0.065	D	0.84790	0.0778	10	0.51188	T	0.08	-27.6725	12.7264	0.57173	0.0:0.0:0.5733:0.4267	.	52;23;23	Q9Y3E7-3;Q9Y3E7-4;Q9Y3E7	.;.;CHMP3_HUMAN	M	23;23;52;130	ENSP00000263856:I23M;ENSP00000387045:I23M;ENSP00000405575:I52M;ENSP00000392995:I130M	ENSP00000392995:I130M	I	-	3	3	VPS24;RNF103-VPS24	86622923	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	0.593000	0.23999	0.049000	0.15920	0.533000	0.62120	ATA		0.323	CHMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330015.2	NM_016079		C	86769412	T	C	86769412	3	2	804	1	0	0	0	0	1	0	0	0	17200	1744	61	3	619	3	VPS24	2	86769412	Missense_Mutation	SNP	T	TCGA-UZ-A9PP-01A-11D-A42J-10	472251	86769412	156429961	12	47952											
MERTK	10461	hgsc.bcm.edu	37	2	112686995	112686995	+	Silent	SNP	T	T	G			TCGA-UZ-A9PP-01A-11D-A42J-10	TCGA-UZ-A9PP-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b34905a0-79be-4958-821c-f27af735d65e	09c514d0-26ff-4e99-b400-1019a9243565	g.chr2:112686995T>G	ENST00000295408.4	+	2	617	c.360T>G	c.(358-360)ccT>ccG	p.P120P	RN7SL297P_ENST00000483161.2_RNA|MERTK_ENST00000421804.2_Silent_p.P120P|MERTK_ENST00000409780.1_Intron			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	120	Ig-like C2-type 1.				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						TCAGTGTACCTAATATATACC	0.393																																																0													116	107	110					2																	112686995		2203	4300	6503	SO:0001819	synonymous_variant	10461			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.360T>G	chr2.hg19:g.112686995T>G			Q9HBB4	Silent	SNP	ENST00000295408.4	hg19	CCDS2094.1																																																																																				0.393	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2			G	112686995	T	G	112686995	2	3	804	1	0	0	0	0	0	0	0	1	9481	1509	53	5		5	MERTK	2	112686995	Silent	SNP	T	TCGA-UZ-A9PP-01A-11D-A42J-10	25917583	112686995	130512378	13	47953											
FAM123C	205147	hgsc.bcm.edu	37	2	131519874	131519874	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9PP-01A-11D-A42J-10	TCGA-UZ-A9PP-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b34905a0-79be-4958-821c-f27af735d65e	09c514d0-26ff-4e99-b400-1019a9243565	g.chr2:131519874G>A	ENST00000423981.1	+	2	339	c.229G>A	c.(229-231)Gga>Aga	p.G77R	AMER3_ENST00000321420.4_Missense_Mutation_p.G77R	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	77					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.G77R(1)									CCCCAAAGGGGGACCCGCAGC	0.647																																																1	Substitution - Missense(1)	lung(1)											18	27	24					2																	131519874		2197	4299	6496	SO:0001583	missense	205147			AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"-"	26771	protein-coding gene	gene with protein product			"family with sequence similarity 123C"	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.229G>A	chr2.hg19:g.131519874G>A	ENSP00000392700:p.Gly77Arg		B7ZLH6	Missense_Mutation	SNP	ENST00000423981.1	hg19	CCDS2164.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.689763	0.48097	.	.	ENSG00000178171	ENST00000321420;ENST00000431758;ENST00000458606;ENST00000423981	T;T	0.47528	0.84;0.84	4.89	1.02	0.19986	.	0.000000	0.47455	D	0.000240	T	0.38374	0.1038	L	0.29908	0.895	0.09310	N	1	P	0.48162	0.906	P	0.49752	0.621	T	0.17961	-1.0352	10	0.40728	T	0.16	.	6.6426	0.22917	0.3965:0.0:0.6035:0.0	.	77	Q8N944	F123C_HUMAN	R	77	ENSP00000314914:G77R;ENSP00000392700:G77R	ENSP00000314914:G77R	G	+	1	0	FAM123C	131236344	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.726000	0.25984	0.213000	0.20722	-0.291000	0.09656	GGA		0.647	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		A	131519874	G	A	131519874	3	1	804	1	0	0	0	0	1	0	0	0	5426	1233	43	2	231	2	FAM123C	2	131519874	Missense_Mutation	SNP	G	TCGA-UZ-A9PP-01A-11D-A42J-10	18832879	131519874	111679499	14	47954											
SCN9A	6335	hgsc.bcm.edu	37	2	167094694	167094694	+	Missense_Mutation	SNP	G	G	T			TCGA-UZ-A9PP-01A-11D-A42J-10	TCGA-UZ-A9PP-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b34905a0-79be-4958-821c-f27af735d65e	09c514d0-26ff-4e99-b400-1019a9243565	g.chr2:167094694G>T	ENST00000409435.1	-	19	3710	c.3711C>A	c.(3709-3711)ttC>ttA	p.F1237L	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.F1238L|SCN9A_ENST00000409672.1_Missense_Mutation_p.F1226L|SCN9A_ENST00000375387.4_Missense_Mutation_p.F1238L			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1237					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTTCCAGAATGAAGATGTAAG	0.333																																																0													49	50	50					2																	167094694		2158	4288	6446	SO:0001583	missense	6335			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.3711C>A	chr2.hg19:g.167094694G>T	ENSP00000386330:p.Phe1237Leu		A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	hg19	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.084556	0.76642	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.98987	-5.3;-5.3;-5.3;-5.3	5.25	3.44	0.39384	.	0.000000	0.64402	D	0.000007	D	0.99423	0.9796	H	0.97732	4.065	0.50467	D	0.999872	D	0.69078	0.997	D	0.71870	0.975	D	0.98781	1.0732	10	0.87932	D	0	.	8.1778	0.31292	0.3304:0.0:0.6696:0.0	.	1226	E7EUN6	.	L	1226;1238;1238;1237	ENSP00000386306:F1226L;ENSP00000364536:F1238L;ENSP00000304748:F1238L;ENSP00000386330:F1237L	ENSP00000304748:F1238L	F	-	3	2	SCN9A	166802940	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	1.781000	0.38644	0.599000	0.29845	0.655000	0.94253	TTC		0.333	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		T	167094694	G	T	167094694	3	4	804	1	0	0	0	0	1	0	0	0	13931	1281	45	4	2287	4	SCN9A	2	167094694	Missense_Mutation	SNP	G	TCGA-UZ-A9PP-01A-11D-A42J-10	35574820	167094694	76104679	15	47955											
ATP5G3	518	hgsc.bcm.edu	37	2	176043935	176043935	+	Missense_Mutation	SNP	A	A	G			TCGA-UZ-A9PP-01A-11D-A42J-10	TCGA-UZ-A9PP-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b34905a0-79be-4958-821c-f27af735d65e	09c514d0-26ff-4e99-b400-1019a9243565	g.chr2:176043935A>G	ENST00000284727.4	-	4	3188	c.164T>C	c.(163-165)cTa>cCa	p.L55P	ATP5G3_ENST00000392541.3_Missense_Mutation_p.L55P|ATP5G3_ENST00000409194.1_Missense_Mutation_p.L55P|Y_RNA_ENST00000363251.1_RNA	NM_001002258.4|NM_001689.4	NP_001002258.1|NP_001680.1	P48201	AT5G3_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C3 (subunit 9)	55					ATP hydrolysis coupled proton transport (GO:0015991)|ATP synthesis coupled proton transport (GO:0015986)	integral component of membrane (GO:0016021)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|lipid binding (GO:0008289)|transporter activity (GO:0005215)			large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.147)			CCTTTGGATTAGCTGAGACAC	0.448																																					GBM(30;387 605 18606 28805 47989)											0													90	83	85					2																	176043935		2203	4300	6503	SO:0001583	missense	518			BC106881	CCDS2263.1	2q31.1	2012-10-12	2010-06-11		ENSG00000154518	ENSG00000154518		"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	843	protein-coding gene	gene with protein product		602736	"ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9) isoform 3", "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C3 (subunit 9)"			7698763	Standard	NM_001002258		Approved		uc002ujz.4	P48201	OTTHUMG00000132425	ENST00000284727.4:c.164T>C	chr2.hg19:g.176043935A>G	ENSP00000284727:p.Leu55Pro		B2R4Z0|D3DPF0|Q4ZFX7	Missense_Mutation	SNP	ENST00000284727.4	hg19	CCDS2263.1	.	.	.	.	.	.	.	.	.	.	A	15.62	2.886484	0.51908	.	.	ENSG00000154518	ENST00000284727;ENST00000409194;ENST00000392541	T;T;T	0.25250	1.81;1.81;1.81	5.79	4.63	0.57726	.	0.131340	0.51477	D	0.000083	T	0.20333	0.0489	L	0.29908	0.895	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.02042	-1.1224	10	0.45353	T	0.12	-13.4739	13.1837	0.59670	0.8669:0.1331:0.0:0.0	.	55	P48201	AT5G3_HUMAN	P	55	ENSP00000284727:L55P;ENSP00000387317:L55P;ENSP00000376324:L55P	ENSP00000284727:L55P	L	-	2	0	ATP5G3	175752181	0.999000	0.42202	0.999000	0.59377	0.993000	0.82548	2.870000	0.48451	1.010000	0.39314	0.455000	0.32223	CTA		0.448	ATP5G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255563.1	NM_001689		G	176043935	A	G	176043935	3	3	804	1	0	0	0	0	1	0	0	0	1155	420	15	3	276	3	ATP5G3	2	176043935	Missense_Mutation	SNP	A	TCGA-UZ-A9PP-01A-11D-A42J-10	8949241	176043935	67155438	16	47956											
TTN	7273	hgsc.bcm.edu	37	2	179644087	179644087	+	Nonsense_Mutation	SNP	T	T	A			TCGA-UZ-A9PP-01A-11D-A42J-10	TCGA-UZ-A9PP-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b34905a0-79be-4958-821c-f27af735d65e	09c514d0-26ff-4e99-b400-1019a9243565	g.chr2:179644087T>A	ENST00000591111.1	-	23	4056	c.3832A>T	c.(3832-3834)Aag>Tag	p.K1278*	RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.K1278*|TTN_ENST00000359218.5_Nonsense_Mutation_p.K1232*|TTN_ENST00000460472.2_Nonsense_Mutation_p.K1232*|TTN_ENST00000360870.5_Nonsense_Mutation_p.K1278*|TTN_ENST00000589042.1_Nonsense_Mutation_p.K1278*|TTN_ENST00000342175.6_Nonsense_Mutation_p.K1232*			Q8WZ42	TITIN_HUMAN	titin	33471					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)			ACTGCCATCTTTTCTTCTCCA	0.318																																																0													41	40	41					2																	179644087		2203	4297	6500	SO:0001587	stop_gained	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.3832A>T	chr2.hg19:g.179644087T>A	ENSP00000465570:p.Lys1278*		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	hg19		.	.	.	.	.	.	.	.	.	.	T	44	10.638742	0.99442	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.2813	0.82687	0.0:0.0:0.0:1.0	.	.	.	.	X	1278;1232;1232;1232;1232;1278	.	ENSP00000340554:K1232X	K	-	1	0	TTN	179352332	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	5.478000	0.66806	2.244000	0.73946	0.533000	0.62120	AAG		0.318	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179644087	T	A	179644087	4	1	804	1	0	0	0	0	0	1	0	0	16740	1850	64	5	107516	5	TTN	2	179644087	Nonsense_Mutation	SNP	T	TCGA-UZ-A9PP-01A-11D-A42J-10	3600152	179644087	63555286	17	47957											
ZNF589	51385	hgsc.bcm.edu	37	3	48309513	48309513	+	Missense_Mutation	SNP	A	A	G			TCGA-UZ-A9PP-01A-11D-A42J-10	TCGA-UZ-A9PP-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b34905a0-79be-4958-821c-f27af735d65e	09c514d0-26ff-4e99-b400-1019a9243565	g.chr3:48309513A>G	ENST00000354698.3	+	4	404	c.332A>G	c.(331-333)cAt>cGt	p.H111R	ZNF589_ENST00000412564.1_Intron|ZNF589_ENST00000440261.2_Missense_Mutation_p.H110R|ZNF589_ENST00000427617.2_Intron	NM_016089.2	NP_057173.2	Q86UQ0	ZN589_HUMAN	zinc finger protein 589	111					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(193;0.000649)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCAGGTTTCCATGCAGGAAAT	0.507																																					Colon(9;319 328 25374 27611 50948)											0													70	71	71					3																	48309513		1983	4185	6168	SO:0001583	missense	51385			AF114816	CCDS43085.1	3p21	2013-01-08			ENSG00000164048	ENSG00000164048		"Zinc fingers, C2H2-type", "-"	16747	protein-coding gene	gene with protein product						10029171	Standard	NM_016089		Approved	SZF1	uc003csl.4	Q86UQ0	OTTHUMG00000156833	ENST00000354698.3:c.332A>G	chr3.hg19:g.48309513A>G	ENSP00000346729:p.His111Arg		Q86UC9|Q9BRI6|Q9BRY3|Q9Y611|Q9Y612	Missense_Mutation	SNP	ENST00000354698.3	hg19	CCDS43085.1	.	.	.	.	.	.	.	.	.	.	A	5.998	0.368098	0.11352	.	.	ENSG00000164048	ENST00000354698;ENST00000440261;ENST00000296437	T;T	0.05996	3.36;4.89	1.17	-0.0169	0.13970	.	.	.	.	.	T	0.02571	0.0078	N	0.08118	0	0.09310	N	1	P;P;B	0.36712	0.566;0.523;0.389	B;B;B	0.34180	0.177;0.023;0.01	T	0.42716	-0.9435	9	0.25106	T	0.35	.	2.8669	0.05604	0.543:0.0:0.457:0.0	.	110;108;111	B4DQF9;Q86UQ0-2;Q86UQ0	.;.;ZN589_HUMAN	R	111;110;108	ENSP00000346729:H111R;ENSP00000408719:H110R	ENSP00000296437:H108R	H	+	2	0	ZNF589	48284517	0.000000	0.05858	0.001000	0.08648	0.532000	0.34746	0.801000	0.27055	-0.015000	0.14150	0.383000	0.25322	CAT		0.507	ZNF589-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346124.1	NM_016089		G	48309513	A	G	48309513	3	3	804	1	0	0	0	0	1	0	0	0	18026	217	8	3	346	3	ZNF589	3	48309513	Missense_Mutation	SNP	A	TCGA-UZ-A9PP-01A-11D-A42J-10		48309513	149712917	18	47958											
RBM27	54439	hgsc.bcm.edu	37	5	145583374	145583374	+	Silent	SNP	T	T	C			TCGA-UZ-A9PP-01A-11D-A42J-10	TCGA-UZ-A9PP-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b34905a0-79be-4958-821c-f27af735d65e	09c514d0-26ff-4e99-b400-1019a9243565	g.chr5:145583374T>C	ENST00000265271.5	+	1	212	c.46T>C	c.(46-48)Tta>Cta	p.L16L	RBM27_ENST00000506502.1_Silent_p.L16L	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	16					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)			GCTGGCCAAGTTACTGGAGCC	0.711																																																0													11	13	12					5																	145583374		1260	2948	4208	SO:0001819	synonymous_variant	54439			AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"Zinc fingers, CCCH-type domain containing", "RNA binding motif (RRM) containing"	29243	protein-coding gene	gene with protein product	"acidic rich RS domain containing 1"					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.46T>C	chr5.hg19:g.145583374T>C			Q8IYW9	Silent	SNP	ENST00000265271.5	hg19	CCDS43378.1																																																																																				0.711	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373420.1	XM_291128		C	145583374	T	C	145583374	2	2	804	1	0	0	0	0	0	0	0	1	13133	1722	60	3		3	RBM27	5	145583374	Silent	SNP	T	TCGA-UZ-A9PP-01A-11D-A42J-10		145583374	35331886	19	47959											
HIVEP1	3096	hgsc.bcm.edu	37	6	12123780	12123781	+	Frame_Shift_Ins	INS	-	-	C			TCGA-UZ-A9PP-01A-11D-A42J-10	TCGA-UZ-A9PP-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b34905a0-79be-4958-821c-f27af735d65e	09c514d0-26ff-4e99-b400-1019a9243565	g.chr6:12123780_12123781insC	ENST00000379388.2	+	4	4084_4085	c.3752_3753insC	c.(3751-3756)tgccatfs	p.H1252fs	HIVEP1_ENST00000541134.1_5'Flank	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1252					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)				GAAGCTCAATGCCATGATCAAG	0.475																																																0																																										SO:0001589	frameshift_variant	3096			J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"Zinc fingers, C2H2-type"	4920	protein-coding gene	gene with protein product		194540	"human immunodeficiency virus type I enhancer-binding protein 1", "zinc finger protein 40"	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.3754dupC	chr6.hg19:g.12123782_12123782dupC	ENSP00000368698:p.His1252fs		B2RTU3|Q14122|Q5MPB1|Q5VW60	Frame_Shift_Ins	INS	ENST00000379388.2	hg19	CCDS43426.1																																																																																				0.475	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		C	12123781	-	C	12123780	7	5	804	1	0	1	1	0	0	0	0	0	7188	1319	46	0	3762	0	HIVEP1	6	12123780	Frame_Shift_Ins	INS	-	TCGA-UZ-A9PP-01A-11D-A42J-10		12123780	158991287	20	47960											
OR10C1	442194	hgsc.bcm.edu	37	6	29408295	29408295	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9PP-01A-11D-A42J-10	TCGA-UZ-A9PP-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b34905a0-79be-4958-821c-f27af735d65e	09c514d0-26ff-4e99-b400-1019a9243565	g.chr6:29408295G>A	ENST00000444197.2	+	1	1213	c.503G>A	c.(502-504)tGc>tAc	p.C168Y	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	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)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TTGCCCTTCTGCGGCCCCAAT	0.592																																																0													121	135	130					6																	29408295		1509	2709	4218	SO:0001583	missense	442194				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.503G>A	chr6.hg19:g.29408295G>A	ENSP00000419119:p.Cys168Tyr		Q5SUN7|Q96R18	Missense_Mutation	SNP	ENST00000444197.2	hg19	CCDS34364.1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.346866	0.41599	.	.	ENSG00000206474	ENST00000444197	T	0.00245	8.45	3.53	3.53	0.40419	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42548	D	0.000681	T	0.00440	0.0014	H	0.94462	3.54	0.41362	D	0.987435	D	0.89917	1.0	D	0.97110	1.0	T	0.54728	-0.8250	10	0.72032	D	0.01	.	12.0891	0.53715	0.0:0.1749:0.8251:0.0	.	168	Q96KK4	O10C1_HUMAN	Y	168	ENSP00000419119:C168Y	ENSP00000419119:C168Y	C	+	2	0	OR10C1	29516274	1.000000	0.71417	1.000000	0.80357	0.309000	0.27889	5.166000	0.64965	1.805000	0.52779	0.508000	0.49915	TGC		0.592	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076415.2			A	29408295	G	A	29408295	3	1	804	1	0	0	0	0	1	0	0	0	10900	1319	46	2	505	2	OR10C1	6	29408295	Missense_Mutation	SNP	G	TCGA-UZ-A9PP-01A-11D-A42J-10	17284515	29408295	141706772	21	47961											
MICA	100507436	hgsc.bcm.edu	37	6	31379810	31379810	+	Missense_Mutation	SNP	A	A	T			TCGA-UZ-A9PP-01A-11D-A42J-10	TCGA-UZ-A9PP-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b34905a0-79be-4958-821c-f27af735d65e	09c514d0-26ff-4e99-b400-1019a9243565	g.chr6:31379810A>T	ENST00000449934.2	+	4	754	c.700A>T	c.(700-702)Aat>Tat	p.N234Y	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)				CTATCCCCGGAATATCATACT	0.582																																																0													16	19	18					6																	31379810		692	1589	2281	SO:0001583	missense	100507436			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.700A>T	chr6.hg19:g.31379810A>T	ENSP00000413079:p.Asn234Tyr			Missense_Mutation	SNP	ENST00000449934.2	hg19	CCDS56412.1	.	.	.	.	.	.	.	.	.	.	N	13.54	2.268509	0.40095	.	.	ENSG00000204520	ENST00000376222;ENST00000364810;ENST00000399172;ENST00000449934;ENST00000421350	T;T	0.14640	2.49;2.49	2.52	-1.33	0.09172	.	0.698014	0.11634	U	0.544522	T	0.17662	0.0424	M	0.83774	2.66	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.72982	0.979;0.949	T	0.04065	-1.0980	10	0.87932	D	0	.	3.5133	0.07716	0.33:0.2458:0.4242:0.0	.	96;234	Q5SS58;Q96QC4	.;.	Y	96;234;191;234;125	ENSP00000413079:N234Y;ENSP00000402410:N125Y	ENSP00000365394:N234Y	N	+	1	0	MICA	31487789	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	0.220000	0.17660	-0.118000	0.11851	0.365000	0.22127	AAT		0.582	MICA-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076101.7	NM_001177519		T	31379810	A	T	31379810	3	4	804	1	0	0	0	0	1	0	0	0	9570	246	9	5	714	5	MICA	6	31379810	Missense_Mutation	SNP	A	TCGA-UZ-A9PP-01A-11D-A42J-10	1971515	31379810	139735257	22	47962											
BAI3	577	hgsc.bcm.edu	37	6	69772840	69772840	+	Missense_Mutation	SNP	T	T	A			TCGA-UZ-A9PP-01A-11D-A42J-10	TCGA-UZ-A9PP-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b34905a0-79be-4958-821c-f27af735d65e	09c514d0-26ff-4e99-b400-1019a9243565	g.chr6:69772840T>A	ENST00000370598.1	+	16	3169	c.2348T>A	c.(2347-2349)aTt>aAt	p.I783N		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	783					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TATACTGTCATTAATTCCAAA	0.353																																																0													102	95	97					6																	69772840		2203	4300	6503	SO:0001583	missense	577			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.2348T>A	chr6.hg19:g.69772840T>A	ENSP00000359630:p.Ile783Asn		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	hg19	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	T	17.55	3.416826	0.62511	.	.	ENSG00000135298	ENST00000370598	T	0.09817	2.94	5.54	5.54	0.83059	Domain of unknown function DUF3497 (1);	0.132236	0.50627	D	0.000118	T	0.08891	0.0220	L	0.34521	1.04	0.80722	D	1	P	0.41188	0.741	P	0.47528	0.549	T	0.03875	-1.0996	10	0.87932	D	0	.	15.6727	0.77292	0.0:0.0:0.0:1.0	.	783	O60242	BAI3_HUMAN	N	783	ENSP00000359630:I783N	ENSP00000359630:I783N	I	+	2	0	BAI3	69829561	1.000000	0.71417	0.965000	0.40720	0.934000	0.57294	6.725000	0.74752	2.094000	0.63399	0.397000	0.26171	ATT		0.353	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			A	69772840	T	A	69772840	3	1	804	1	0	0	0	0	1	0	0	0	1300	1493	52	5	2402	5	BAI3	6	69772840	Missense_Mutation	SNP	T	TCGA-UZ-A9PP-01A-11D-A42J-10	38393030	69772840	101342227	23	47963											
ITGB8	3696	hgsc.bcm.edu	37	7	20449400	20449400	+	Splice_Site	SNP	A	A	G			TCGA-UZ-A9PP-01A-11D-A42J-10	TCGA-UZ-A9PP-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b34905a0-79be-4958-821c-f27af735d65e	09c514d0-26ff-4e99-b400-1019a9243565	g.chr7:20449400A>G	ENST00000222573.4	+	13	2870	c.2186A>G	c.(2185-2187)aAg>aGg	p.K729R	ITGB8_ENST00000537992.1_Splice_Site_p.K594R	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	729					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						GCCTCAAAAAAGGTCAGTGAA	0.318																																																0													73	79	77					7																	20449400		2203	4299	6502	SO:0001630	splice_region_variant	3696				CCDS5370.1	7p15.3	2010-03-23			ENSG00000105855	ENSG00000105855		"Integrins"	6163	protein-coding gene	gene with protein product		604160					Standard	XM_005249751		Approved		uc003suu.3	P26012	OTTHUMG00000023594	ENST00000222573.4:c.2187+1A>G	chr7.hg19:g.20449400A>G			A4D133|B4DHD4	Missense_Mutation	SNP	ENST00000222573.4	hg19	CCDS5370.1	.	.	.	.	.	.	.	.	.	.	A	19.04	3.749231	0.69533	.	.	ENSG00000105855	ENST00000537992;ENST00000222573	T;T	0.51071	0.72;0.72	6.06	6.06	0.98353	.	0.000000	0.64402	D	0.000002	T	0.36744	0.0978	L	0.47716	1.5	0.53005	D	0.999961	P	0.42409	0.779	B	0.32149	0.141	T	0.37197	-0.9716	10	0.56958	D	0.05	.	10.8727	0.46894	0.9303:0.0:0.0697:0.0	.	729	P26012	ITB8_HUMAN	R	594;729	ENSP00000441561:K594R;ENSP00000222573:K729R	ENSP00000222573:K729R	K	+	2	0	ITGB8	20415925	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.810000	0.62598	2.324000	0.78689	0.533000	0.62120	AAG		0.318	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059915.3	NM_002214	Missense_Mutation	G	20449400	A	G	20449400	5	3	804	1	0	0	0	0	0	0	1	0	7903	86	3	3	2236	3	ITGB8	7	20449400	Splice_Site	SNP	A	TCGA-UZ-A9PP-01A-11D-A42J-10		20449400	138689263	24	47964											
URGCP	55665	hgsc.bcm.edu	37	7	43917041	43917041	+	Missense_Mutation	SNP	C	C	A			TCGA-UZ-A9PP-01A-11D-A42J-10	TCGA-UZ-A9PP-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b34905a0-79be-4958-821c-f27af735d65e	09c514d0-26ff-4e99-b400-1019a9243565	g.chr7:43917041C>A	ENST00000453200.1	-	6	2514	c.2021G>T	c.(2020-2022)tGg>tTg	p.W674L	URGCP_ENST00000336086.6_Missense_Mutation_p.W631L|URGCP_ENST00000223341.7_Missense_Mutation_p.W631L|URGCP_ENST00000402306.3_Missense_Mutation_p.W665L|URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000443736.1_Missense_Mutation_p.W631L|URGCP_ENST00000447717.3_Missense_Mutation_p.W631L			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	674					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						CCCTGTGACCCAGCGGACGGG	0.642																																																0													29	33	32					7																	43917041		2118	4226	6344	SO:0001583	missense	55665				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.2021G>T	chr7.hg19:g.43917041C>A	ENSP00000396918:p.Trp674Leu		E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Missense_Mutation	SNP	ENST00000453200.1	hg19	CCDS47578.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.068660	0.76301	.	.	ENSG00000106608	ENST00000223341;ENST00000336086;ENST00000402306;ENST00000443736;ENST00000453200;ENST00000447717	T;T;T;T;T;T	0.22134	2.01;2.01;1.98;2.01;1.97;2.01	5.97	5.97	0.96955	.	0.056596	0.85682	D	0.000000	T	0.52403	0.1732	M	0.84082	2.675	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.54583	-0.8272	10	0.87932	D	0	-31.708	17.9218	0.88969	0.0:1.0:0.0:0.0	.	665;674	Q8TCY9-2;Q8TCY9	.;URGCP_HUMAN	L	631;631;665;631;674;631	ENSP00000223341:W631L;ENSP00000336872:W631L;ENSP00000384955:W665L;ENSP00000392136:W631L;ENSP00000396918:W674L;ENSP00000402803:W631L	ENSP00000223341:W631L	W	-	2	0	URGCP	43883566	1.000000	0.71417	1.000000	0.80357	0.605000	0.37080	7.262000	0.78410	2.837000	0.97791	0.655000	0.94253	TGG		0.642	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338995.1	NM_001077664		A	43917041	C	A	43917041	3	1	804	1	0	0	0	0	1	0	0	0	17031	595	21	4	778	4	URGCP	7	43917041	Missense_Mutation	SNP	C	TCGA-UZ-A9PP-01A-11D-A42J-10	23467641	43917041	115221622	25	47965											
MDH2	4191	hgsc.bcm.edu	37	7	75693752	75693752	+	Silent	SNP	A	A	G			TCGA-UZ-A9PP-01A-11D-A42J-10	TCGA-UZ-A9PP-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b34905a0-79be-4958-821c-f27af735d65e	09c514d0-26ff-4e99-b400-1019a9243565	g.chr7:75693752A>G	ENST00000315758.5	+	7	823	c.729A>G	c.(727-729)ggA>ggG	p.G243G	MDH2_ENST00000432020.2_Silent_p.G201G|MDH2_ENST00000443006.1_Silent_p.G136G	NM_005918.2	NP_005909.2	P40926	MDHM_HUMAN	malate dehydrogenase 2, NAD (mitochondrial)	243					carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|internal protein amino acid acetylation (GO:0006475)|malate metabolic process (GO:0006108)|NADH metabolic process (GO:0006734)|oxaloacetate metabolic process (GO:0006107)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	L-malate dehydrogenase activity (GO:0030060)|malate dehydrogenase (NADP+) activity (GO:0046554)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(2)	14						CTAAAGCCGGAGCAGGTAGAG	0.647																																																0													25	25	25					7																	75693752		2198	4299	6497	SO:0001819	synonymous_variant	4191				CCDS5581.1, CCDS64691.1, CCDS75622.1	7q11.23	2013-09-20			ENSG00000146701	ENSG00000146701	1.1.1.37		6971	protein-coding gene	gene with protein product		154100					Standard	NM_005918		Approved		uc003ueo.3	P40926	OTTHUMG00000023827	ENST00000315758.5:c.729A>G	chr7.hg19:g.75693752A>G			A8K414|B2RE78|B4DE44|E9PDB2|O43682	Silent	SNP	ENST00000315758.5	hg19	CCDS5581.1																																																																																				0.647	MDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252851.1			G	75693752	A	G	75693752	2	3	804	1	0	0	0	0	0	0	0	1	9412	291	11	3		3	MDH2	7	75693752	Silent	SNP	A	TCGA-UZ-A9PP-01A-11D-A42J-10	31776711	75693752	83444911	26	47966											
MLL5	55904	hgsc.bcm.edu	37	7	104742604	104742604	+	Missense_Mutation	SNP	T	T	G			TCGA-UZ-A9PP-01A-11D-A42J-10	TCGA-UZ-A9PP-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b34905a0-79be-4958-821c-f27af735d65e	09c514d0-26ff-4e99-b400-1019a9243565	g.chr7:104742604T>G	ENST00000311117.3	+	17	2704	c.2159T>G	c.(2158-2160)cTt>cGt	p.L720R	KMT2E_ENST00000334914.7_5'UTR|CTB-152G17.6_ENST00000607968.1_RNA|KMT2E_ENST00000334877.4_Missense_Mutation_p.L720R|KMT2E_ENST00000257745.4_Missense_Mutation_p.L720R	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	720					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)										GTTCCAGCACTTAATAAATGT	0.299																																																0													67	72	70					7																	104742604		2202	4298	6500	SO:0001583	missense	55904			AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	18541	protein-coding gene	gene with protein product		608444	"myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.2159T>G	chr7.hg19:g.104742604T>G	ENSP00000312379:p.Leu720Arg		B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	ENST00000311117.3	hg19	CCDS34723.1	.	.	.	.	.	.	.	.	.	.	T	11.60	1.687786	0.29962	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745	D;D;D	0.92048	-2.96;-2.59;-2.96	5.75	5.75	0.90469	.	0.461581	0.23362	N	0.049019	D	0.84741	0.5539	L	0.29908	0.895	0.80722	D	1	P	0.36199	0.543	B	0.34452	0.183	T	0.81824	-0.0755	10	0.10636	T	0.68	.	11.188	0.48669	0.137:0.0:0.0:0.863	.	720	Q8IZD2	MLL5_HUMAN	R	720;720;720;640;720	ENSP00000312379:L720R;ENSP00000335599:L720R;ENSP00000257745:L720R	ENSP00000257745:L720R	L	+	2	0	MLL5	104529840	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.598000	0.54038	2.201000	0.70794	0.533000	0.62120	CTT		0.299	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			G	104742604	T	G	104742604	3	3	804	1	0	0	0	0	1	0	0	0	9626	1609	56	5	2217	5	MLL5	7	104742604	Missense_Mutation	SNP	T	TCGA-UZ-A9PP-01A-11D-A42J-10	29048852	104742604	54396059	27	47967											
WASL	8976	hgsc.bcm.edu	37	7	123332492	123332492	+	Missense_Mutation	SNP	A	A	G			TCGA-UZ-A9PP-01A-11D-A42J-10	TCGA-UZ-A9PP-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b34905a0-79be-4958-821c-f27af735d65e	09c514d0-26ff-4e99-b400-1019a9243565	g.chr7:123332492A>G	ENST00000223023.4	-	9	1588	c.1256T>C	c.(1255-1257)cTa>cCa	p.L419P		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	419	WH2 1. {ECO:0000255|PROSITE- ProRule:PRU00406}.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cellular protein complex localization (GO:0034629)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane budding (GO:0006900)|mitotic nuclear division (GO:0007067)|nitric oxide metabolic process (GO:0046209)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of filopodium assembly (GO:0051491)|protein complex assembly (GO:0006461)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|response to bacterium (GO:0009617)|small molecule metabolic process (GO:0044281)|spindle localization (GO:0051653)|transcription, DNA-templated (GO:0006351)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	small GTPase regulator activity (GO:0005083)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CACTTTTTTTAGCTGAGCACC	0.502																																																0													77	74	75					7																	123332492		2203	4300	6503	SO:0001583	missense	8976			D88460	CCDS34743.1	7q31.3	2008-02-01			ENSG00000106299	ENSG00000106299			12735	protein-coding gene	gene with protein product		605056				9422512, 9322739	Standard	NM_003941		Approved	N-WASP, NWASP	uc003vkz.3	O00401	OTTHUMG00000157346	ENST00000223023.4:c.1256T>C	chr7.hg19:g.123332492A>G	ENSP00000223023:p.Leu419Pro		A1JUI9|Q7Z746	Missense_Mutation	SNP	ENST00000223023.4	hg19	CCDS34743.1	.	.	.	.	.	.	.	.	.	.	A	16.69	3.192537	0.58017	.	.	ENSG00000106299	ENST00000223023	D	0.99849	-7.15	5.79	5.79	0.91817	Wiscott-Aldrich syndrome, C-terminal (1);Actin-binding WH2 (3);	0.000000	0.64402	D	0.000002	D	0.99832	0.9924	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96750	0.9553	10	0.72032	D	0.01	-17.53	16.1172	0.81314	1.0:0.0:0.0:0.0	.	419	O00401	WASL_HUMAN	P	419	ENSP00000223023:L419P	ENSP00000223023:L419P	L	-	2	0	WASL	123119728	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.884000	0.92432	2.201000	0.70794	0.528000	0.53228	CTA		0.502	WASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348522.1	NM_003941		G	123332492	A	G	123332492	3	3	804	1	0	0	0	0	1	0	0	0	17261	420	15	3	273	3	WASL	7	123332492	Missense_Mutation	SNP	A	TCGA-UZ-A9PP-01A-11D-A42J-10	18589888	123332492	35806171	28	47968											
BRAF	673	hgsc.bcm.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-UZ-A9PP-01A-11D-A42J-10	TCGA-UZ-A9PP-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b34905a0-79be-4958-821c-f27af735d65e	09c514d0-26ff-4e99-b400-1019a9243565	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)		Dom	yes		7	7q34	673	v-raf murine sarcoma viral oncogene homolog B1	yes	E	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(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)											112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Familial Cancer Database	CFC, CFCS	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	chr7.hg19:g.140453136A>T	ENSP00000288602:p.Val600Glu		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	hg19	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		T	140453136	A	T	140453136	3	4	804	1	0	0	0	0	1	0	0	0	1498	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-UZ-A9PP-01A-11D-A42J-10	17120644	140453136	18685527	29	47969											
INTS9	55756	hgsc.bcm.edu	37	8	28671112	28671113	+	Missense_Mutation	DNP	AG	AG	GA			TCGA-UZ-A9PP-01A-11D-A42J-10	TCGA-UZ-A9PP-10A-01D-A42M-10	A|G	A|G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b34905a0-79be-4958-821c-f27af735d65e	09c514d0-26ff-4e99-b400-1019a9243565	g.chr8:28671112_28671113AG>GA	ENST00000521022.1	-	7	586_587	c.505_506CT>TC	c.(505-507)CTc>TCc	p.L169S	INTS9_ENST00000521777.1_Missense_Mutation_p.L145S|INTS9_ENST00000397363.4_Missense_Mutation_p.L63S|INTS9_ENST00000416984.2_Missense_Mutation_p.L148S	NM_018250.3	NP_060720.2	Q9NV88	INT9_HUMAN	integrator complex subunit 9	169					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)		TGCATCCTTGAGAGGAGAAGGT	0.421																																																0																																										SO:0001583	missense	55756			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.505_506delinsGA	chr8.hg19:g.28671112_28671113delinsGA	ENSP00000429065:p.Leu169Ser		B7Z560|B7Z6M5|O00224|Q8TB16	Missense_Mutation	SNP	ENST00000521022.1	hg19	CCDS34873.1																																																																																				0.421	INTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376846.1	NM_018250		GA	28671113	AG	GA	28671112	3	3	804	1	0	0	0	0	1	0	0	0	7787	304	11	3	1514	3	INTS9	8	28671112	Missense_Mutation	DNP	AG	TCGA-UZ-A9PP-01A-11D-A42J-10		28671112	117692910	30	47970											
KCNB2	9312	hgsc.bcm.edu	37	8	73480085	73480085	+	Missense_Mutation	SNP	T	T	G			TCGA-UZ-A9PP-01A-11D-A42J-10	TCGA-UZ-A9PP-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b34905a0-79be-4958-821c-f27af735d65e	09c514d0-26ff-4e99-b400-1019a9243565	g.chr8:73480085T>G	ENST00000523207.1	+	2	704	c.116T>G	c.(115-117)aTc>aGc	p.I39S		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	39					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)	AGAGTTAAGATCAATGTGGGG	0.572																																																0													80	81	80					8																	73480085		2203	4300	6503	SO:0001583	missense	9312			U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.116T>G	chr8.hg19:g.73480085T>G	ENSP00000430846:p.Ile39Ser		Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	hg19	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.552042	0.86127	.	.	ENSG00000182674	ENST00000523207	T	0.80393	-1.37	5.71	5.71	0.89125	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.329901	0.17562	U	0.169793	D	0.91402	0.7287	M	0.91354	3.2	0.51012	D	0.999906	D	0.59767	0.986	D	0.64687	0.928	D	0.92898	0.6337	10	0.87932	D	0	.	15.9958	0.80243	0.0:0.0:0.0:1.0	.	39	Q92953	KCNB2_HUMAN	S	39	ENSP00000430846:I39S	ENSP00000430846:I39S	I	+	2	0	KCNB2	73642639	1.000000	0.71417	0.994000	0.49952	0.989000	0.77384	7.841000	0.86834	2.188000	0.69820	0.533000	0.62120	ATC		0.572	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		G	73480085	T	G	73480085	3	3	804	1	0	0	0	0	1	0	0	0	8015	1435	50	5	118	5	KCNB2	8	73480085	Missense_Mutation	SNP	T	TCGA-UZ-A9PP-01A-11D-A42J-10	44808973	73480085	72883937	31	47971											
ZCCHC7	84186	hgsc.bcm.edu	37	9	37349376	37349376	+	Missense_Mutation	SNP	A	A	C			TCGA-UZ-A9PP-01A-11D-A42J-10	TCGA-UZ-A9PP-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b34905a0-79be-4958-821c-f27af735d65e	09c514d0-26ff-4e99-b400-1019a9243565	g.chr9:37349376A>C	ENST00000336755.5	+	7	1116	c.1010A>C	c.(1009-1011)aAg>aCg	p.K337T	ZCCHC7_ENST00000461038.1_3'UTR|ZCCHC7_ENST00000534928.1_Missense_Mutation_p.K47T	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	337						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		CCACCCAAAAAGCCGAAGACC	0.413																																																0													148	130	136					9																	37349376		2203	4300	6503	SO:0001583	missense	84186			AK026264	CCDS6608.2	9p13.1	2008-05-02			ENSG00000147905	ENSG00000147905		"Zinc fingers, CCHC domain containing"	26209	protein-coding gene	gene with protein product							Standard	NM_032226		Approved	FLJ22611, AIR1	uc003zzq.3	Q8N3Z6	OTTHUMG00000019915	ENST00000336755.5:c.1010A>C	chr9.hg19:g.37349376A>C	ENSP00000337839:p.Lys337Thr		B2RCI4|D3DRQ0|Q5T0Q8|Q5T0Q9|Q5T0R0|Q8N2M1|Q8N4J2|Q8TBK8|Q9H648|Q9P0F0	Missense_Mutation	SNP	ENST00000336755.5	hg19	CCDS6608.2	.	.	.	.	.	.	.	.	.	.	A	20.8	4.047988	0.75846	.	.	ENSG00000147905	ENST00000336755;ENST00000534928	T;T	0.75821	-0.97;-0.97	5.7	4.36	0.52297	Zinc finger, CCHC retroviral-type (1);	0.284260	0.37053	N	0.002279	T	0.75443	0.3850	L	0.54323	1.7	0.38274	D	0.942228	D	0.63880	0.993	P	0.56343	0.796	T	0.76075	-0.3092	10	0.37606	T	0.19	-21.0409	6.5841	0.22610	0.7103:0.1622:0.1274:0.0	.	337	Q8N3Z6	ZCHC7_HUMAN	T	337;47	ENSP00000337839:K337T;ENSP00000443113:K47T	ENSP00000337839:K337T	K	+	2	0	ZCCHC7	37339376	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	0.957000	0.29215	2.176000	0.68965	0.445000	0.29226	AAG		0.413	ZCCHC7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052453.2	NM_032226		C	37349376	A	C	37349376	3	2	804	1	0	0	0	0	1	0	0	0	17598	72	3	5	1032	5	ZCCHC7	9	37349376	Missense_Mutation	SNP	A	TCGA-UZ-A9PP-01A-11D-A42J-10		37349376	103864055	32	47972											
C9orf3	84909	hgsc.bcm.edu	37	9	97767897	97767897	+	Splice_Site	SNP	A	A	G			TCGA-UZ-A9PP-01A-11D-A42J-10	TCGA-UZ-A9PP-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b34905a0-79be-4958-821c-f27af735d65e	09c514d0-26ff-4e99-b400-1019a9243565	g.chr9:97767897A>G	ENST00000375315.2	+	12	2114	c.2114A>G	c.(2113-2115)aAg>aGg	p.K705R	C9orf3_ENST00000297979.5_Splice_Site_p.K606R|C9orf3_ENST00000425634.2_Splice_Site_p.K67R|C9orf3_ENST00000433691.2_Splice_Site_p.K46R	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	705					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)		GTGTTTGAAAAGGTAGGGGTT	0.493																																																0													99	104	102					9																	97767897		2203	4300	6503	SO:0001630	splice_region_variant	84909			AF043896	CCDS6713.1, CCDS55327.1, CCDS55328.1	9q22	2013-06-27			ENSG00000148120	ENSG00000148120			1361	protein-coding gene	gene with protein product	aminopeptidase O					15687497	Standard	NM_001193329		Approved	C90RF3, FLJ14675, APO, AOPEP, AP-O	uc004ava.3	Q8N6M6	OTTHUMG00000020276	ENST00000375315.2:c.2115+1A>G	chr9.hg19:g.97767897A>G			Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	Missense_Mutation	SNP	ENST00000375315.2	hg19	CCDS55328.1	.	.	.	.	.	.	.	.	.	.	A	19.52	3.842859	0.71488	.	.	ENSG00000148120	ENST00000297979;ENST00000375315;ENST00000424143;ENST00000428313;ENST00000375316;ENST00000425634;ENST00000433691;ENST00000375314	T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93	4.11	4.11	0.48088	Peptidase M1, leukotriene A4 hydrolase, aminopeptidase C-terminal (1);Armadillo-type fold (1);	0.062989	0.64402	D	0.000008	T	0.57344	0.2047	M	0.65975	2.015	0.80722	D	1	P;D;D;P;P;D	0.76494	0.945;0.999;0.982;0.885;0.827;0.974	P;D;P;P;B;P	0.83275	0.703;0.996;0.832;0.666;0.359;0.806	T	0.54111	-0.8342	10	0.19147	T	0.46	-15.1115	11.2577	0.49063	1.0:0.0:0.0:0.0	.	46;67;124;705;606;606	B4DU39;B4DQU3;E9PF71;Q8N6M6;Q8N6M6-4;Q8N6M6-2	.;.;.;AMPO_HUMAN;.;.	R	606;705;429;487;124;67;46;69	ENSP00000297979:K606R;ENSP00000364464:K705R;ENSP00000402171:K429R;ENSP00000401854:K487R;ENSP00000411815:K67R;ENSP00000399365:K46R	ENSP00000297979:K606R	K	+	2	0	C9orf3	96807718	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	5.849000	0.69465	1.854000	0.53819	0.459000	0.35465	AAG		0.493	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032823	Missense_Mutation	G	97767897	A	G	97767897	5	3	804	1	0	0	0	0	0	0	1	0	2479	86	3	3	1855	3	C9orf3	9	97767897	Splice_Site	SNP	A	TCGA-UZ-A9PP-01A-11D-A42J-10	60418521	97767897	43445534	33	47973											
OAT	4942	hgsc.bcm.edu	37	10	126097337	126097337	+	Missense_Mutation	SNP	A	A	G			TCGA-UZ-A9PP-01A-11D-A42J-10	TCGA-UZ-A9PP-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b34905a0-79be-4958-821c-f27af735d65e	09c514d0-26ff-4e99-b400-1019a9243565	g.chr10:126097337A>G	ENST00000368845.5	-	3	489	c.397T>C	c.(397-399)Tac>Cac	p.Y133H	OAT_ENST00000467675.1_5'UTR|OAT_ENST00000539214.1_5'UTR	NM_000274.3	NP_000265.1	P04181	OAT_HUMAN	ornithine aminotransferase	133					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-proline biosynthetic process (GO:0055129)|protein hexamerization (GO:0034214)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ornithine-oxo-acid transaminase activity (GO:0004587)|pyridoxal phosphate binding (GO:0030170)			endometrium(2)|large_intestine(1)|lung(2)	5		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)			L-Ornithine(DB00129)	ACTTTGTGGTAGTTGAAAAGT	0.284																																																0													68	71	70					10																	126097337		2203	4300	6503	SO:0001583	missense	4942			BC016928	CCDS7639.1, CCDS53586.1	10q26	2014-09-17	2010-01-20		ENSG00000065154	ENSG00000065154	2.6.1.13		8091	protein-coding gene	gene with protein product	"Ornithine aminotransferase", "ornithine aminotransferase precursor", "gyrate atrophy"	613349				1682785	Standard	NM_000274		Approved	HOGA	uc001lhp.3	P04181	OTTHUMG00000019213	ENST00000368845.5:c.397T>C	chr10.hg19:g.126097337A>G	ENSP00000357838:p.Tyr133His		D3DRF0|Q16068|Q16069|Q68CS0|Q6IAV9|Q9UD03	Missense_Mutation	SNP	ENST00000368845.5	hg19	CCDS7639.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.413753	0.83449	.	.	ENSG00000065154	ENST00000368845	D	0.86164	-2.08	5.0	5.0	0.66597	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.91882	0.7430	L	0.59967	1.855	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92611	0.6099	10	0.66056	D	0.02	0.1642	15.4281	0.75069	1.0:0.0:0.0:0.0	.	133	P04181	OAT_HUMAN	H	133	ENSP00000357838:Y133H	ENSP00000357838:Y133H	Y	-	1	0	OAT	126087327	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.959000	0.93110	2.195000	0.70347	0.455000	0.32223	TAC		0.284	OAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050863.1	NM_000274		G	126097337	A	G	126097337	3	3	804	1	0	0	0	0	1	0	0	0	10805	420	15	3	954	3	OAT	10	126097337	Missense_Mutation	SNP	A	TCGA-UZ-A9PP-01A-11D-A42J-10		126097337	9437410	34	47974											
MUC2	4583	hgsc.bcm.edu	37	11	1092801	1092802	+	In_Frame_Ins	INS	-	-	CCTCCAACA	rs528672869|rs534872608	byFrequency	TCGA-UZ-A9PP-01A-11D-A42J-10	TCGA-UZ-A9PP-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b34905a0-79be-4958-821c-f27af735d65e	09c514d0-26ff-4e99-b400-1019a9243565	g.chr11:1092801_1092802insCCTCCAACA	ENST00000441003.2	+	30	4647_4648	c.4620_4621insCCTCCAACA	c.(4621-4623)acc>CCTCCAACAacc	p.1540_1541insPPT	MUC2_ENST00000359061.5_In_Frame_Ins_p.1541_1542insPPT|MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_5'Flank	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				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)	ccactcccatcaccaccaccac	0.629																																																0																																										SO:0001652	inframe_insertion	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	Exception_encountered	chr11.hg19:g.1092801_1092802insCCTCCAACA	ENSP00000415183:p.Ile1540_Thr1541insProProThr		Q14878	In_Frame_Ins	INS	ENST00000441003.2	hg19																																																																																					0.629	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		CCTCCAACA	1092802	-	CCTCCAACA	1092801	7	5	804	1	0	1	1	0	0	0	0	0	9977	816	29	0	4738	0	MUC2	11	1092801	In_Frame_Ins	INS	-	TCGA-UZ-A9PP-01A-11D-A42J-10		1092801	133913715	35	47975											
CALCA	796	hgsc.bcm.edu	37	11	14992664	14992664	+	Silent	SNP	T	T	A			TCGA-UZ-A9PP-01A-11D-A42J-10	TCGA-UZ-A9PP-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b34905a0-79be-4958-821c-f27af735d65e	09c514d0-26ff-4e99-b400-1019a9243565	g.chr11:14992664T>A	ENST00000486207.1	-	1	83	c.75A>T	c.(73-75)gcA>gcT	p.A25A	CALCA_ENST00000361010.3_Silent_p.A25A|CALCA_ENST00000331587.4_Silent_p.A25A|CALCA_ENST00000396372.2_Silent_p.A25A|CALCB_ENST00000523376.1_Intron|CALCA_ENST00000359642.3_Silent_p.A25A			P06881	CALCA_HUMAN	calcitonin-related polypeptide alpha	25					activation of adenylate cyclase activity (GO:0007190)|cell-cell signaling (GO:0007267)|cytosolic calcium ion homeostasis (GO:0051480)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|G-protein coupled receptor internalization (GO:0002031)|leukocyte cell-cell adhesion (GO:0007159)|negative regulation of blood pressure (GO:0045776)|negative regulation of bone resorption (GO:0045779)|negative regulation of calcium ion transport into cytosol (GO:0010523)|negative regulation of osteoclast differentiation (GO:0045671)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of interleukin-1 alpha production (GO:0032730)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of vasodilation (GO:0045909)|protein phosphorylation (GO:0006468)|receptor internalization (GO:0031623)|regulation of blood pressure (GO:0008217)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	protein complex binding (GO:0032403)|receptor binding (GO:0005102)			central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	8						TGAATGGTGCTGCATGGAGGC	0.512																																																0													101	91	94					11																	14992664		2200	4294	6494	SO:0001819	synonymous_variant	796			X00356, M64486	CCDS7819.1, CCDS31432.1	11p15.2	2014-09-17	2008-02-20		ENSG00000110680	ENSG00000110680		"Endogenous ligands"	1437	protein-coding gene	gene with protein product	"calcitonin"	114130	"calcitonin 1"	CALC1		6546550	Standard	NM_001033953		Approved		uc001mlw.1	P01258	OTTHUMG00000159731	ENST00000486207.1:c.75A>T	chr11.hg19:g.14992664T>A			Q93048|Q9UCP0	Silent	SNP	ENST00000486207.1	hg19	CCDS31432.1																																																																																				0.512	CALCA-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357068.1	NM_001741		A	14992664	T	A	14992664	2	1	804	1	0	0	0	0	0	0	0	1	2577	1567	55	5		5	CALCA	11	14992664	Silent	SNP	T	TCGA-UZ-A9PP-01A-11D-A42J-10	13899863	14992664	120013852	36	47976											
LTBP3	4054	hgsc.bcm.edu	37	11	65320922	65320922	+	Missense_Mutation	SNP	T	T	A			TCGA-UZ-A9PP-01A-11D-A42J-10	TCGA-UZ-A9PP-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b34905a0-79be-4958-821c-f27af735d65e	09c514d0-26ff-4e99-b400-1019a9243565	g.chr11:65320922T>A	ENST00000301873.5	-	4	1212	c.944A>T	c.(943-945)aAg>aTg	p.K315M	LTBP3_ENST00000322147.4_Missense_Mutation_p.K315M|LTBP3_ENST00000536982.1_Intron	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	315	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						CTTGTGGCACTTGCTCTGGCC	0.667																																																0													29	30	30					11																	65320922		2193	4291	6484	SO:0001583	missense	4054			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.944A>T	chr11.hg19:g.65320922T>A	ENSP00000301873:p.Lys315Met		O15107|Q96HB9|Q9H7K2|Q9UFN4	Missense_Mutation	SNP	ENST00000301873.5	hg19	CCDS44647.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.396831	0.83120	.	.	ENSG00000168056	ENST00000322147;ENST00000301873;ENST00000530866;ENST00000530426	D;D;D;T	0.87887	-1.61;-1.68;-2.31;1.95	4.8	4.8	0.61643	Matrix fibril-associated (3);TGF-beta binding (1);	0.000000	0.85682	D	0.000000	D	0.91019	0.7175	L	0.55481	1.735	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;0.999	D	0.91440	0.5173	10	0.62326	D	0.03	.	12.3307	0.55038	0.0:0.0:0.0:1.0	.	226;198;315;315	E9PKW1;B9EG76;Q9NS15;Q9NS15-2	.;.;LTBP3_HUMAN;.	M	315;315;226;36	ENSP00000326647:K315M;ENSP00000301873:K315M;ENSP00000435276:K226M;ENSP00000432476:K36M	ENSP00000301873:K315M	K	-	2	0	LTBP3	65077498	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.758000	0.55220	2.022000	0.59522	0.413000	0.27773	AAG		0.667	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390538.1	NM_021070		A	65320922	T	A	65320922	3	1	804	1	0	0	0	0	1	0	0	0	9077	1609	56	5	3067	5	LTBP3	11	65320922	Missense_Mutation	SNP	T	TCGA-UZ-A9PP-01A-11D-A42J-10	50328258	65320922	69685594	37	47977											
ABCG4	64137	hgsc.bcm.edu	37	11	119020846	119020846	+	Silent	SNP	A	A	T			TCGA-UZ-A9PP-01A-11D-A42J-10	TCGA-UZ-A9PP-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b34905a0-79be-4958-821c-f27af735d65e	09c514d0-26ff-4e99-b400-1019a9243565	g.chr11:119020846A>T	ENST00000449422.2	+	2	359	c.171A>T	c.(169-171)tcA>tcT	p.S57S	ABCG4_ENST00000307417.3_Silent_p.S57S|ABCG4_ENST00000531739.1_Silent_p.S57S	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	57					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)		CCAAGCGCTCAGCCGTGGACA	0.642																																																0													80	86	84					11																	119020846		2200	4295	6495	SO:0001819	synonymous_variant	64137			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.171A>T	chr11.hg19:g.119020846A>T			A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Silent	SNP	ENST00000449422.2	hg19	CCDS8415.1																																																																																				0.642	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388215.1	NM_022169		T	119020846	A	T	119020846	2	4	804	1	0	0	0	0	0	0	0	1	70	175	7	5		5	ABCG4	11	119020846	Silent	SNP	A	TCGA-UZ-A9PP-01A-11D-A42J-10	53699924	119020846	15985670	38	47978											
CMAS	55907	hgsc.bcm.edu	37	12	22208120	22208120	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9PP-01A-11D-A42J-10	TCGA-UZ-A9PP-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b34905a0-79be-4958-821c-f27af735d65e	09c514d0-26ff-4e99-b400-1019a9243565	g.chr12:22208120G>A	ENST00000229329.2	+	2	428	c.298G>A	c.(298-300)Gtg>Atg	p.V100M		NM_018686.4	NP_061156.1	Q8NFW8	NEUA_HUMAN	cytidine monophosphate N-acetylneuraminic acid synthetase	100					lipopolysaccharide biosynthetic process (GO:0009103)|N-acetylneuraminate metabolic process (GO:0006054)	membrane (GO:0016020)|nucleus (GO:0005634)	N-acylneuraminate cytidylyltransferase activity (GO:0008781)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						AATTGAGAATGTGGCCAAACA	0.343																																																0													86	82	84					12																	22208120		2203	4300	6503	SO:0001583	missense	55907			AF271388	CCDS8696.1	12p12.1	2008-08-04			ENSG00000111726	ENSG00000111726			18290	protein-coding gene	gene with protein product	"CMP-Neu5Ac synthetase"	603316				8889549, 7566098	Standard	NM_018686		Approved		uc001rfm.4	Q8NFW8	OTTHUMG00000169097	ENST00000229329.2:c.298G>A	chr12.hg19:g.22208120G>A	ENSP00000229329:p.Val100Met		Q96AX5|Q9NQZ0	Missense_Mutation	SNP	ENST00000229329.2	hg19	CCDS8696.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.604159	0.87157	.	.	ENSG00000111726	ENST00000229329	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.85771	0.5774	M	0.91972	3.26	0.58432	D	0.999997	D	0.76494	0.999	D	0.79784	0.993	D	0.88715	0.3225	9	0.87932	D	0	-18.9373	17.6578	0.88182	0.0:0.0:1.0:0.0	.	100	Q8NFW8	NEUA_HUMAN	M	100	.	ENSP00000229329:V100M	V	+	1	0	CMAS	22099387	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.109000	0.94291	2.597000	0.87782	0.591000	0.81541	GTG		0.343	CMAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402235.1	NM_018686		A	22208120	G	A	22208120	3	1	804	1	0	0	0	0	1	0	0	0	3577	1377	48	2	304	2	CMAS	12	22208120	Missense_Mutation	SNP	G	TCGA-UZ-A9PP-01A-11D-A42J-10		22208120	111643775	39	47979											
TPCN1	53373	hgsc.bcm.edu	37	12	113733831	113733831	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9PP-01A-11D-A42J-10	TCGA-UZ-A9PP-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b34905a0-79be-4958-821c-f27af735d65e	09c514d0-26ff-4e99-b400-1019a9243565	g.chr12:113733831G>A	ENST00000335509.6	+	28	2715	c.2401G>A	c.(2401-2403)Gcc>Acc	p.A801T	TPCN1_ENST00000541517.1_Missense_Mutation_p.A873T|TPCN1_ENST00000550785.1_Missense_Mutation_p.A873T|TPCN1_ENST00000392569.4_Missense_Mutation_p.A733T	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	801					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						TGCAGCCCCCGCCGCCCAGCA	0.612																																																0													26	32	30					12																	113733831		2202	4300	6502	SO:0001583	missense	53373			AB032995	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			ENSG00000186815	ENSG00000186815		"Voltage-gated ion channels / Two-pore channels"	18182	protein-coding gene	gene with protein product		609666				10574461, 10753632, 16382101	Standard	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	Q9ULQ1	OTTHUMG00000169625	ENST00000335509.6:c.2401G>A	chr12.hg19:g.113733831G>A	ENSP00000335300:p.Ala801Thr		A7E258|Q86XS9|Q8NC20	Missense_Mutation	SNP	ENST00000335509.6	hg19	CCDS31908.1	.	.	.	.	.	.	.	.	.	.	G	0.084	-1.178598	0.01633	.	.	ENSG00000186815	ENST00000335509;ENST00000550785;ENST00000541517;ENST00000392569	T;T;T;T	0.39787	1.06;1.06;1.06;1.06	5.33	-10.7	0.00240	.	2.170010	0.01720	N	0.028217	T	0.11965	0.0291	N	0.02011	-0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.21348	-1.0248	10	0.02654	T	1	-1.6346	7.2145	0.25951	0.6415:0.1268:0.0874:0.1443	.	873;801	Q9ULQ1-3;Q9ULQ1	.;TPC1_HUMAN	T	801;873;873;733	ENSP00000335300:A801T;ENSP00000448083:A873T;ENSP00000438125:A873T;ENSP00000376350:A733T	ENSP00000335300:A801T	A	+	1	0	TPCN1	112218214	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.447000	0.01010	-1.860000	0.01154	-1.108000	0.02087	GCC		0.612	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405156.3	NM_017901		A	113733831	G	A	113733831	3	1	804	1	0	0	0	0	1	0	0	0	16400	1087	38	1	2727	1	TPCN1	12	113733831	Missense_Mutation	SNP	G	TCGA-UZ-A9PP-01A-11D-A42J-10	91525711	113733831	20118064	40	47980											
KNTC1	9735	hgsc.bcm.edu	37	12	123065184	123065184	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9PP-01A-11D-A42J-10	TCGA-UZ-A9PP-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b34905a0-79be-4958-821c-f27af735d65e	09c514d0-26ff-4e99-b400-1019a9243565	g.chr12:123065184G>A	ENST00000333479.7	+	33	3126	c.2949G>A	c.(2947-2949)atG>atA	p.M983I	KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	983					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)		GTGAAGAAATGTTGAAACTAT	0.303																																																0													83	77	79					12																	123065184		1851	4091	5942	SO:0001583	missense	9735				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.2949G>A	chr12.hg19:g.123065184G>A	ENSP00000328236:p.Met983Ile		A7E2C4|B3KSG2	Missense_Mutation	SNP	ENST00000333479.7	hg19	CCDS45002.1	.	.	.	.	.	.	.	.	.	.	G	4.710	0.132087	0.08981	.	.	ENSG00000184445	ENST00000333479	T	0.13657	2.57	5.9	1.99	0.26369	.	1.288510	0.05264	N	0.516315	T	0.07503	0.0189	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35475	-0.9787	10	0.21014	T	0.42	4.0371	7.1155	0.25414	0.0:0.5751:0.255:0.1699	.	983	P50748	KNTC1_HUMAN	I	983	ENSP00000328236:M983I	ENSP00000328236:M983I	M	+	3	0	KNTC1	121631137	0.008000	0.16893	0.044000	0.18714	0.704000	0.40688	0.201000	0.17276	0.814000	0.34374	-0.519000	0.04390	ATG		0.303	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			A	123065184	G	A	123065184	3	1	804	1	0	0	0	0	1	0	0	0	8430	1377	48	2	3075	2	KNTC1	12	123065184	Missense_Mutation	SNP	G	TCGA-UZ-A9PP-01A-11D-A42J-10	9331353	123065184	10786711	41	47981											
COL4A1	1282	hgsc.bcm.edu	37	13	110844571	110844572	+	Missense_Mutation	DNP	GC	GC	AG			TCGA-UZ-A9PP-01A-11D-A42J-10	TCGA-UZ-A9PP-10A-01D-A42M-10	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b34905a0-79be-4958-821c-f27af735d65e	09c514d0-26ff-4e99-b400-1019a9243565	g.chr13:110844571_110844572GC>AG	ENST00000375820.4	-	24	1646_1647	c.1525_1526GC>CT	c.(1525-1527)GCa>CTa	p.A509L	COL4A1_ENST00000543140.1_Missense_Mutation_p.A509L	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	509	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TGGCACTCCTGCAACACCATCT	0.515																																																0																																										SO:0001583	missense	1282			J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"Collagens"	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.1525_1526delinsAG	chr13.hg19:g.110844571_110844572delinsAG	ENSP00000364979:p.Ala509Leu		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	ENST00000375820.4	hg19	CCDS9511.1																																																																																				0.515	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			AG	110844572	GC	AG	110844571	3	1	804	1	0	0	0	0	1	0	0	0	3691	1319	46	2	3599	2	COL4A1	13	110844571	Missense_Mutation	DNP	GC	TCGA-UZ-A9PP-01A-11D-A42J-10		110844571	4325307	42	47982											
CTAGE5	4253	hgsc.bcm.edu	37	14	39777771	39777775	+	Frame_Shift_Del	DEL	AAATG	AAATG	-			TCGA-UZ-A9PP-01A-11D-A42J-10	TCGA-UZ-A9PP-10A-01D-A42M-10	AAATG	AAATG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b34905a0-79be-4958-821c-f27af735d65e	09c514d0-26ff-4e99-b400-1019a9243565	g.chr14:39777771_39777775delAAATG	ENST00000280083.3	+	13	1487_1491	c.1173_1177delAAATG	c.(1171-1179)gaaaatgaafs	p.ENE391fs	CTAGE5_ENST00000341502.5_Frame_Shift_Del_p.ENE391fs|CTAGE5_ENST00000396158.2_Frame_Shift_Del_p.ENE396fs|CTAGE5_ENST00000341749.3_Frame_Shift_Del_p.ENE379fs|RP11-407N17.3_ENST00000603904.1_Frame_Shift_Del_p.ENE362fs|CTAGE5_ENST00000553352.1_Frame_Shift_Del_p.ENE362fs|CTAGE5_ENST00000396165.4_Frame_Shift_Del_p.ENE362fs|CTAGE5_ENST00000557038.1_Frame_Shift_Del_p.ENE311fs|CTAGE5_ENST00000556148.1_Frame_Shift_Del_p.ENE316fs|CTAGE5_ENST00000348007.3_Frame_Shift_Del_p.ENE391fs|RP11-407N17.3_ENST00000553728.1_Frame_Shift_Del_p.ENE926fs			O15320	CTGE5_HUMAN	CTAGE family, member 5	391					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)		TATATCAAGAAAATGAAATGAAACT	0.293																																																0																																										SO:0001589	frameshift_variant	4253			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.1173_1177delAAATG	chr14.hg19:g.39777776_39777780delAAATG	ENSP00000280083:p.Glu391fs		B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Frame_Shift_Del	DEL	ENST00000280083.3	hg19	CCDS9674.1																																																																																				0.293	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276771.2	NM_005930		-	39777775	AAATG	-	39777771	7	5	804	1	0	1	0	1	0	0	0	0	3996	11	1	0	1254	0	CTAGE5	14	39777771	Frame_Shift_Del	DEL	AAATG	TCGA-UZ-A9PP-01A-11D-A42J-10		39777771	67571769	43	47983											
DDHD1	80821	hgsc.bcm.edu	37	14	53522531	53522531	+	Missense_Mutation	SNP	T	T	G			TCGA-UZ-A9PP-01A-11D-A42J-10	TCGA-UZ-A9PP-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b34905a0-79be-4958-821c-f27af735d65e	09c514d0-26ff-4e99-b400-1019a9243565	g.chr14:53522531T>G	ENST00000323669.5	-	10	2091	c.2092A>C	c.(2092-2094)Atg>Ctg	p.M698L	DDHD1_ENST00000357758.3_Missense_Mutation_p.M698L|DDHD1_ENST00000395606.1_Missense_Mutation_p.M705L|DDHD1_ENST00000555621.1_5'Flank	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	698	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					CTTGGCTTCATATGTTCATAA	0.408																																																0													207	201	203					14																	53522531		2203	4300	6503	SO:0001583	missense	80821			AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"phosphatidic acid-preferring phospholipase A1"	614603	"spastic paraplegia 28 (autosomal recessive)"	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.2092A>C	chr14.hg19:g.53522531T>G	ENSP00000327104:p.Met698Leu		G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Missense_Mutation	SNP	ENST00000323669.5	hg19	CCDS53895.1	.	.	.	.	.	.	.	.	.	.	T	14.82	2.649974	0.47362	.	.	ENSG00000100523	ENST00000323669;ENST00000395606;ENST00000357758;ENST00000395610	.	.	.	5.75	5.75	0.90469	DDHD (2);	0.043024	0.85682	D	0.000000	T	0.38134	0.1029	N	0.14661	0.345	0.46167	D	0.998908	B;B;B;B	0.11235	0.004;0.002;0.003;0.003	B;B;B;B	0.15052	0.007;0.007;0.012;0.004	T	0.32666	-0.9898	9	0.05351	T	0.99	-19.4471	16.0487	0.80740	0.0:0.0:0.0:1.0	.	94;705;698;698	Q2VYF2;G5E9D1;Q8NEL9;Q8NEL9-2	.;.;DDHD1_HUMAN;.	L	698;705;698;569	.	ENSP00000327104:M698L	M	-	1	0	DDHD1	52592281	1.000000	0.71417	0.995000	0.50966	0.984000	0.73092	3.384000	0.52478	2.189000	0.69895	0.533000	0.62120	ATG		0.408	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276901.1			G	53522531	T	G	53522531	3	3	804	1	0	0	0	0	1	0	0	0	4328	1406	49	5	626	5	DDHD1	14	53522531	Missense_Mutation	SNP	T	TCGA-UZ-A9PP-01A-11D-A42J-10	13744760	53522531	53827009	44	47984											
ULK3	25989	hgsc.bcm.edu	37	15	75135403	75135403	+	Missense_Mutation	SNP	A	A	G			TCGA-UZ-A9PP-01A-11D-A42J-10	TCGA-UZ-A9PP-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b34905a0-79be-4958-821c-f27af735d65e	09c514d0-26ff-4e99-b400-1019a9243565	g.chr15:75135403A>G	ENST00000440863.2	-	1	135	c.44T>C	c.(43-45)aTc>aCc	p.I15T	ULK3_ENST00000568667.1_5'Flank|ULK3_ENST00000569437.1_Missense_Mutation_p.I15T	NM_001099436.1	NP_001092906	Q6PHR2	ULK3_HUMAN	unc-51 like kinase 3	15	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|cellular senescence (GO:0090398)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)	2						CTCGGTGAGGATGAAGCCGTC	0.776																																																0													3	5	4					15																	75135403		1571	3479	5050	SO:0001583	missense	25989			BC048289		15q24.1	2013-07-02	2013-07-02			ENSG00000140474			19703	protein-coding gene	gene with protein product		613472	"unc-51-like kinase 3 (C. elegans)"				Standard	XM_005254289		Approved	DKFZP434C131, FLJ90566	uc010bkf.1	Q6PHR2		ENST00000440863.2:c.44T>C	chr15.hg19:g.75135403A>G	ENSP00000400312:p.Ile15Thr		B2RXK3|B4DRQ7|D3DW68|Q9NPN5|Q9UFS4	Missense_Mutation	SNP	ENST00000440863.2	hg19	CCDS45305.1	.	.	.	.	.	.	.	.	.	.	A	14.25	2.480633	0.44044	.	.	ENSG00000140474	ENST00000440863	T	0.23552	1.9	4.54	4.54	0.55810	Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.117629	0.53938	D	0.000046	T	0.15262	0.0368	N	0.13272	0.32	0.80722	D	1	B;B	0.17038	0.002;0.02	B;B	0.24006	0.01;0.05	T	0.08534	-1.0717	10	0.14252	T	0.57	.	12.8187	0.57679	1.0:0.0:0.0:0.0	.	15;15	Q6PHR2;Q6PHR2-3	ULK3_HUMAN;.	T	15	ENSP00000400312:I15T	ENSP00000400312:I15T	I	-	2	0	ULK3	72922456	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.408000	0.80041	1.903000	0.55091	0.459000	0.35465	ATC		0.776	ULK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421734.4	NM_015518		G	75135403	A	G	75135403	3	3	804	1	0	0	0	0	1	0	0	0	16982	333	12	3	1438	3	ULK3	15	75135403	Missense_Mutation	SNP	A	TCGA-UZ-A9PP-01A-11D-A42J-10		75135403	27395989	45	47985											
SLC28A1	9154	hgsc.bcm.edu	37	15	85476403	85476403	+	Missense_Mutation	SNP	T	T	A			TCGA-UZ-A9PP-01A-11D-A42J-10	TCGA-UZ-A9PP-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b34905a0-79be-4958-821c-f27af735d65e	09c514d0-26ff-4e99-b400-1019a9243565	g.chr15:85476403T>A	ENST00000286749.3	+	12	1201	c.1111T>A	c.(1111-1113)Tct>Act	p.S371T	SLC28A1_ENST00000538177.1_Intron|SLC28A1_ENST00000537216.1_Missense_Mutation_p.S371T|SLC28A1_ENST00000537624.1_Missense_Mutation_p.S371T|SLC28A1_ENST00000394573.1_Missense_Mutation_p.S371T			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	371					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)	GATTGCAGCCTCTGTGATGGC	0.572																																																0													194	163	174					15																	85476403		2203	4299	6502	SO:0001583	missense	9154			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.1111T>A	chr15.hg19:g.85476403T>A	ENSP00000286749:p.Ser371Thr		A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Missense_Mutation	SNP	ENST00000286749.3	hg19	CCDS10334.1	.	.	.	.	.	.	.	.	.	.	T	17.46	3.395020	0.62066	.	.	ENSG00000156222	ENST00000537216;ENST00000537624;ENST00000286749;ENST00000394573	T;T;T;T	0.08634	3.07;3.07;3.07;3.07	4.4	3.27	0.37495	Na dependent nucleoside transporter, C-terminal (1);	0.112318	0.64402	D	0.000006	T	0.15869	0.0382	M	0.82823	2.61	0.80722	D	1	B;B;B	0.34264	0.432;0.446;0.432	B;B;B	0.40940	0.344;0.329;0.344	T	0.00837	-1.1546	10	0.49607	T	0.09	-10.8731	8.0882	0.30784	0.0:0.0977:0.0:0.9023	.	371;371;371	B7Z533;F5H560;O00337	.;.;S28A1_HUMAN	T	371	ENSP00000440546:S371T;ENSP00000444700:S371T;ENSP00000286749:S371T;ENSP00000378074:S371T	ENSP00000286749:S371T	S	+	1	0	SLC28A1	83277407	1.000000	0.71417	0.141000	0.22245	0.782000	0.44232	7.597000	0.82733	0.718000	0.32166	0.460000	0.39030	TCT		0.572	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308998.2			A	85476403	T	A	85476403	3	1	804	1	0	0	0	0	1	0	0	0	14537	1551	54	5	1224	5	SLC28A1	15	85476403	Missense_Mutation	SNP	T	TCGA-UZ-A9PP-01A-11D-A42J-10	10341000	85476403	17054989	46	47986											
PRR14	78994	hgsc.bcm.edu	37	16	30666905	30666905	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9PP-01A-11D-A42J-10	TCGA-UZ-A9PP-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b34905a0-79be-4958-821c-f27af735d65e	09c514d0-26ff-4e99-b400-1019a9243565	g.chr16:30666905G>A	ENST00000542965.2	+	9	1853	c.1397G>A	c.(1396-1398)cGa>cAa	p.R466Q	PRR14_ENST00000571654.1_3'UTR|FBRS_ENST00000356166.6_5'Flank|PRR14_ENST00000300835.4_Missense_Mutation_p.R466Q			Q9BWN1	PRR14_HUMAN	proline rich 14	466										breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			GGACTGCCTCGACCAATCAGG	0.527																																																0													59	50	53					16																	30666905		2197	4300	6497	SO:0001583	missense	78994			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.1397G>A	chr16.hg19:g.30666905G>A	ENSP00000441641:p.Arg466Gln		Q8WTX2	Missense_Mutation	SNP	ENST00000542965.2	hg19	CCDS10687.1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.870580	0.72065	.	.	ENSG00000156858	ENST00000287463;ENST00000300835;ENST00000542965	T;T	0.58060	0.36;0.36	4.9	4.9	0.64082	.	0.234286	0.32218	N	0.006402	T	0.69251	0.3090	M	0.61703	1.905	0.40056	D	0.975836	D	0.89917	1.0	D	0.81914	0.995	T	0.73528	-0.3954	10	0.72032	D	0.01	-5.1769	14.9896	0.71377	0.0:0.0:1.0:0.0	.	466	Q9BWN1	PRR14_HUMAN	Q	439;466;466	ENSP00000300835:R466Q;ENSP00000441641:R466Q	ENSP00000287463:R439Q	R	+	2	0	PRR14	30574406	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	3.651000	0.54431	2.289000	0.77006	0.467000	0.42956	CGA		0.527	PRR14-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434433.1	NM_024031		A	30666905	G	A	30666905	3	1	804	1	0	0	0	0	1	0	0	0	12591	1058	37	1	1431	1	PRR14	16	30666905	Missense_Mutation	SNP	G	TCGA-UZ-A9PP-01A-11D-A42J-10		30666905	59687848	47	47987											
VMO1	284013	hgsc.bcm.edu	37	17	4688689	4688689	+	Missense_Mutation	SNP	T	T	C			TCGA-UZ-A9PP-01A-11D-A42J-10	TCGA-UZ-A9PP-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b34905a0-79be-4958-821c-f27af735d65e	09c514d0-26ff-4e99-b400-1019a9243565	g.chr17:4688689T>C	ENST00000328739.5	-	3	656	c.577A>G	c.(577-579)Aac>Gac	p.N193D	VMO1_ENST00000416307.2_3'UTR|VMO1_ENST00000441199.2_3'UTR|VMO1_ENST00000354194.4_3'UTR	NM_182566.2	NP_872372.1	Q7Z5L0	VMO1_HUMAN	vitelline membrane outer layer 1 homolog (chicken)	193						extracellular vesicular exosome (GO:0070062)				kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|pancreas(1)	11						CGCGCGTCGTTCAGCGCAGTG	0.637																																																0													39	38	38					17																	4688689		2203	4300	6503	SO:0001583	missense	284013			AF521892	CCDS11055.1, CCDS45585.1, CCDS45586.1, CCDS45587.1	17p13.2	2013-03-07	2005-11-14						30387	protein-coding gene	gene with protein product						22025569	Standard	NM_182566		Approved		uc002fyx.3	Q7Z5L0		ENST00000328739.5:c.577A>G	chr17.hg19:g.4688689T>C	ENSP00000328397:p.Asn193Asp		C9JQ15|E9PAU9|E9PGP4|Q3SXP1|Q8IUY1	Missense_Mutation	SNP	ENST00000328739.5	hg19	CCDS11055.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.614127	0.87359	.	.	ENSG00000182853	ENST00000328739	T	0.52983	0.64	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.67804	0.2932	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72414	-0.4301	10	0.87932	D	0	-28.9276	12.295	0.54840	0.0:0.0:0.0:1.0	.	193	Q7Z5L0	VMO1_HUMAN	D	193	ENSP00000328397:N193D	ENSP00000328397:N193D	N	-	1	0	VMO1	4635429	1.000000	0.71417	0.768000	0.31515	0.847000	0.48162	6.415000	0.73328	2.016000	0.59253	0.459000	0.35465	AAC		0.637	VMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439587.1	NM_182566		C	4688689	T	C	4688689	3	2	804	1	0	0	0	0	1	0	0	0	17182	1783	62	3	35	3	VMO1	17	4688689	Missense_Mutation	SNP	T	TCGA-UZ-A9PP-01A-11D-A42J-10		4688689	76506521	48	47988											
OMG	4974	hgsc.bcm.edu	37	17	29622689	29622689	+	Missense_Mutation	SNP	T	T	G			TCGA-UZ-A9PP-01A-11D-A42J-10	TCGA-UZ-A9PP-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b34905a0-79be-4958-821c-f27af735d65e	09c514d0-26ff-4e99-b400-1019a9243565	g.chr17:29622689T>G	ENST00000247271.4	-	2	922	c.661A>C	c.(661-663)Acc>Ccc	p.T221P	NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron	NM_002544.4	NP_002535.3	P23515	OMGP_HUMAN	oligodendrocyte myelin glycoprotein	221					cell adhesion (GO:0007155)|negative regulation of axonogenesis (GO:0050771)|neuron projection regeneration (GO:0031102)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|regulation of collateral sprouting of intact axon in response to injury (GO:0048683)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.0?(8)|p.?(3)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|stomach(1)	13		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;1.81e-13)|Epithelial(4;4.04e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.49e-12)|GBM - Glioblastoma multiforme(4;0.121)		TTGTAAAGGGTTATCTCTTGC	0.383																																																11	Whole gene deletion(8)|Unknown(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)											168	160	163					17																	29622689		2203	4300	6503	SO:0001583	missense	4974				CCDS11265.1	17q11-q12	2008-07-18			ENSG00000126861	ENSG00000126861			8135	protein-coding gene	gene with protein product		164345				1899288, 2277079	Standard	NM_002544		Approved	OMGP	uc002hgj.3	P23515	OTTHUMG00000132870	ENST00000247271.4:c.661A>C	chr17.hg19:g.29622689T>G	ENSP00000247271:p.Thr221Pro		E1P659	Missense_Mutation	SNP	ENST00000247271.4	hg19	CCDS11265.1	.	.	.	.	.	.	.	.	.	.	T	15.04	2.715414	0.48622	.	.	ENSG00000126861	ENST00000247271	T	0.58060	0.36	5.72	4.61	0.57282	.	0.092549	0.47093	D	0.000251	T	0.61413	0.2345	L	0.46157	1.445	0.80722	D	1	P	0.46142	0.873	P	0.59487	0.858	T	0.58228	-0.7673	10	0.37606	T	0.19	-3.0707	12.2612	0.54651	0.1274:0.0:0.0:0.8726	.	221	P23515	OMGP_HUMAN	P	221	ENSP00000247271:T221P	ENSP00000247271:T221P	T	-	1	0	OMG	26646815	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.403000	0.59729	1.055000	0.40461	0.528000	0.53228	ACC		0.383	OMG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256350.2	NM_002544		G	29622689	T	G	29622689	3	3	804	1	0	0	0	0	1	0	0	0	10868	1725	60	5	665	5	OMG	17	29622689	Missense_Mutation	SNP	T	TCGA-UZ-A9PP-01A-11D-A42J-10	24934000	29622689	51572521	49	47989											
BPTF	2186	hgsc.bcm.edu	37	17	65944312	65944312	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UZ-A9PP-01A-11D-A42J-10	TCGA-UZ-A9PP-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b34905a0-79be-4958-821c-f27af735d65e	09c514d0-26ff-4e99-b400-1019a9243565	g.chr17:65944312C>T	ENST00000321892.4	+	25	8255	c.8194C>T	c.(8194-8196)Cag>Tag	p.Q2732*	BPTF_ENST00000306378.6_Nonsense_Mutation_p.Q2606*|BPTF_ENST00000335221.5_Nonsense_Mutation_p.Q2589*|RP11-855A2.3_ENST00000577385.1_RNA|BPTF_ENST00000424123.3_Nonsense_Mutation_p.Q2450*			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2732					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)			ACGTAGCAAGCAGAATGCCAC	0.453																																																0													122	122	122					17																	65944312		2203	4300	6503	SO:0001587	stop_gained	2186			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"Zinc fingers, PHD-type"	3581	protein-coding gene	gene with protein product		601819	"fetal Alzheimer antigen"	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.8194C>T	chr17.hg19:g.65944312C>T	ENSP00000315454:p.Gln2732*		Q6NX67|Q7Z7D6|Q9UIG2	Nonsense_Mutation	SNP	ENST00000321892.4	hg19		.	.	.	.	.	.	.	.	.	.	C	50	16.265582	0.99859	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892;ENST00000424123	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-7.5331	19.9341	0.97130	0.0:1.0:0.0:0.0	.	.	.	.	X	2606;2589;2732;260	.	ENSP00000307208:Q2606X	Q	+	1	0	BPTF	63374774	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.480000	0.45206	2.711000	0.92665	0.563000	0.77884	CAG		0.453	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		T	65944312	C	T	65944312	4	4	804	1	0	0	0	0	0	1	0	0	1497	711	25	2	8292	2	BPTF	17	65944312	Nonsense_Mutation	SNP	C	TCGA-UZ-A9PP-01A-11D-A42J-10	36321623	65944312	15250898	50	47990											
NPC1	4864	hgsc.bcm.edu	37	18	21112245	21112245	+	Missense_Mutation	SNP	G	G	T			TCGA-UZ-A9PP-01A-11D-A42J-10	TCGA-UZ-A9PP-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b34905a0-79be-4958-821c-f27af735d65e	09c514d0-26ff-4e99-b400-1019a9243565	g.chr18:21112245G>T	ENST00000269228.5	-	25	4312	c.3758C>A	c.(3757-3759)cCa>cAa	p.P1253Q	NPC1_ENST00000412552.2_Missense_Mutation_p.P935Q	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	1253					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)					ATTTACTGATGGCCCTATGAG	0.483																																																0													166	153	158					18																	21112245		2203	4300	6503	SO:0001583	missense	4864			AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.3758C>A	chr18.hg19:g.21112245G>T	ENSP00000269228:p.Pro1253Gln		B4DET3|Q9P130	Missense_Mutation	SNP	ENST00000269228.5	hg19	CCDS11878.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.051325	0.75960	.	.	ENSG00000141458	ENST00000269228;ENST00000412552	D;D	0.94723	-3.5;-3.42	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.97362	0.9137	M	0.77616	2.38	0.80722	D	1	D;D	0.76494	0.992;0.999	D;D	0.72338	0.964;0.977	D	0.97027	0.9747	10	0.72032	D	0.01	-14.4897	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1264;1253	Q59GR1;O15118	.;NPC1_HUMAN	Q	1253;935	ENSP00000269228:P1253Q;ENSP00000408606:P935Q	ENSP00000269228:P1253Q	P	-	2	0	NPC1	19366243	1.000000	0.71417	0.585000	0.28666	0.304000	0.27724	8.841000	0.92131	2.941000	0.99782	0.655000	0.94253	CCA		0.483	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254823.2	NM_000271		T	21112245	G	T	21112245	3	4	804	1	0	0	0	0	1	0	0	0	10572	1348	47	4	82	4	NPC1	18	21112245	Missense_Mutation	SNP	G	TCGA-UZ-A9PP-01A-11D-A42J-10		21112245	56965003	51	47991											
KATNAL2	83473	hgsc.bcm.edu	37	18	44595931	44595931	+	Missense_Mutation	SNP	T	T	G			TCGA-UZ-A9PP-01A-11D-A42J-10	TCGA-UZ-A9PP-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b34905a0-79be-4958-821c-f27af735d65e	09c514d0-26ff-4e99-b400-1019a9243565	g.chr18:44595931T>G	ENST00000245121.5	+	10	946	c.752T>G	c.(751-753)aTt>aGt	p.I251S	KATNAL2_ENST00000356157.7_Missense_Mutation_p.I323S|KATNAL2_ENST00000592005.1_Intron	NM_031303.2	NP_112593.2			katanin p60 subunit A-like 2											central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						GCATCCACCATTGTCAGCAAA	0.358																																																0													92	88	89					18																	44595931		2203	4300	6503	SO:0001583	missense	83473			BC034999	CCDS32828.1	18q21.1	2010-04-21			ENSG00000167216	ENSG00000167216		"ATPases / AAA-type"	25387	protein-coding gene	gene with protein product		614697				12477932	Standard	NM_031303		Approved	MGC33211, DKFZP667C165	uc002lco.3	Q8IYT4		ENST00000245121.5:c.752T>G	chr18.hg19:g.44595931T>G	ENSP00000245121:p.Ile251Ser			Missense_Mutation	SNP	ENST00000245121.5	hg19	CCDS32828.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.653075	0.88056	.	.	ENSG00000167216	ENST00000356157;ENST00000245121;ENST00000454462	D;D	0.95103	-3.61;-3.61	5.78	5.78	0.91487	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.96506	0.8860	L	0.60012	1.86	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97051	0.9764	10	0.87932	D	0	-7.6939	16.1021	0.81178	0.0:0.0:0.0:1.0	.	323	Q8IYT4	KATL2_HUMAN	S	323;251;91	ENSP00000348478:I323S;ENSP00000245121:I251S	ENSP00000245121:I251S	I	+	2	0	KATNAL2	42849929	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	6.267000	0.72546	2.210000	0.71456	0.533000	0.62120	ATT		0.358	KATNAL2-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446138.2	NM_031303		G	44595931	T	G	44595931	3	3	804	1	0	0	0	0	1	0	0	0	7988	1493	52	5	786	5	KATNAL2	18	44595931	Missense_Mutation	SNP	T	TCGA-UZ-A9PP-01A-11D-A42J-10	23483686	44595931	33481317	52	47992											
ALPK2	115701	hgsc.bcm.edu	37	18	56149190	56149190	+	Silent	SNP	T	T	C			TCGA-UZ-A9PP-01A-11D-A42J-10	TCGA-UZ-A9PP-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b34905a0-79be-4958-821c-f27af735d65e	09c514d0-26ff-4e99-b400-1019a9243565	g.chr18:56149190T>C	ENST00000361673.3	-	13	6591	c.6378A>G	c.(6376-6378)aaA>aaG	p.K2126K		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	2126	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.					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						GTCCCAGCATTTTGCAATACT	0.408																																																0													178	163	168					18																	56149190		2203	4300	6503	SO:0001819	synonymous_variant	115701			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"Immunoglobulin superfamily / I-set domain containing"	20565	protein-coding gene	gene with protein product	"heart alpha-kinase"					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.6378A>G	chr18.hg19:g.56149190T>C			Q6ZUX0|Q8NAT5|Q96L95	Silent	SNP	ENST00000361673.3	hg19	CCDS11966.2																																																																																				0.408	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		C	56149190	T	C	56149190	2	2	804	1	0	0	0	0	0	0	0	1	545	1838	64	3		3	ALPK2	18	56149190	Silent	SNP	T	TCGA-UZ-A9PP-01A-11D-A42J-10	11553259	56149190	21928058	53	47993											
DAZAP1	26528	hgsc.bcm.edu	37	19	1418337	1418342	+	In_Frame_Del	DEL	GCCAGC	GCCAGC	-			TCGA-UZ-A9PP-01A-11D-A42J-10	TCGA-UZ-A9PP-10A-01D-A42M-10	GCCAGC	GCCAGC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b34905a0-79be-4958-821c-f27af735d65e	09c514d0-26ff-4e99-b400-1019a9243565	g.chr19:1418337_1418342delGCCAGC	ENST00000233078.4	+	3	366_371	c.205_210delGCCAGC	c.(205-210)gccagcdel	p.AS69del	DAZAP1_ENST00000336761.6_In_Frame_Del_p.AS69del|DAZAP1_ENST00000586579.1_3'UTR	NM_018959.2	NP_061832.2	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1	69	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|maternal placenta development (GO:0001893)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		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)		GACGGTGCTGGCCAGCAGACCGCACA	0.515																																																0																																										SO:0001651	inframe_deletion	26528				CCDS12065.1, CCDS12066.1	19p13.3	2013-07-16			ENSG00000071626	ENSG00000071626		"RNA binding motif (RRM) containing"	2683	protein-coding gene	gene with protein product	"deleted in azoospermia associated protein 1"	607430				10857750, 23658607	Standard	XM_005259530		Approved	MGC19907	uc002lsn.3	Q96EP5		ENST00000233078.4:c.205_210delGCCAGC	chr19.hg19:g.1418337_1418342delGCCAGC	ENSP00000233078:p.Ala69_Ser70del		Q96MJ3|Q9NRR9	In_Frame_Del	DEL	ENST00000233078.4	hg19	CCDS12065.1																																																																																				0.515	DAZAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449522.3	NM_170711		-	1418342	GCCAGC	-	1418337	7	5	804	1	0	1	0	1	0	0	0	0	4246	1203	42	0	215	0	DAZAP1	19	1418337	In_Frame_Del	DEL	GCCAGC	TCGA-UZ-A9PP-01A-11D-A42J-10		1418337	57710646	54	47994											
SAFB	6294	hgsc.bcm.edu	37	19	5664085	5664085	+	Missense_Mutation	SNP	T	T	C			TCGA-UZ-A9PP-01A-11D-A42J-10	TCGA-UZ-A9PP-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b34905a0-79be-4958-821c-f27af735d65e	09c514d0-26ff-4e99-b400-1019a9243565	g.chr19:5664085T>C	ENST00000292123.5	+	16	2313	c.2206T>C	c.(2206-2208)Tac>Cac	p.Y736H	SAFB_ENST00000454510.1_Missense_Mutation_p.Y667H|SAFB_ENST00000433404.1_Missense_Mutation_p.Y566H|SAFB_ENST00000592224.1_Missense_Mutation_p.Y735H|SAFB_ENST00000588852.1_Missense_Mutation_p.Y736H|SAFB_ENST00000538656.1_Missense_Mutation_p.Y578H	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	736	Arg-rich.|Interaction with POLR2A.|Interaction with SAFB2.				chromatin organization (GO:0006325)|growth (GO:0040007)|hormone metabolic process (GO:0042445)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		GGATGAGCGCTACCATTCTGA	0.622																																					Colon(88;338 1345 6184 8214 20897)											0													48	47	47					19																	5664085		2203	4300	6503	SO:0001583	missense	6294			L43631	CCDS12142.1, CCDS56077.1, CCDS59339.1, CCDS59340.1	19p13.3-p13.2	2013-02-12				ENSG00000160633		"RNA binding motif (RRM) containing"	10520	protein-coding gene	gene with protein product	"Hsp27 ERE-TATA binding protein"	602895				9605873, 8600450	Standard	NM_002967		Approved	HET, SAFB1	uc002mcg.3	Q15424		ENST00000292123.5:c.2206T>C	chr19.hg19:g.5664085T>C	ENSP00000292123:p.Tyr736His		A0AV56|B7Z5B6|B7ZLP6|F5H0H3|O60406|Q59HH8	Missense_Mutation	SNP	ENST00000292123.5	hg19	CCDS12142.1	.	.	.	.	.	.	.	.	.	.	T	14.31	2.496184	0.44352	.	.	ENSG00000160633	ENST00000454510;ENST00000540206;ENST00000433404;ENST00000292123;ENST00000538656	T;T;T;T	0.12039	2.75;2.9;2.72;2.73	4.99	4.99	0.66335	.	0.000000	0.45606	D	0.000353	T	0.15176	0.0366	M	0.76574	2.34	0.42698	D	0.993605	P;P;P;P;P;P;P	0.39759	0.56;0.56;0.687;0.56;0.56;0.56;0.56	B;B;B;B;B;B;B	0.37833	0.132;0.132;0.259;0.132;0.132;0.132;0.132	T	0.05131	-1.0904	10	0.12766	T	0.61	-20.0369	8.9747	0.35928	0.0:0.0842:0.0:0.9158	.	535;578;667;735;736;736;735	B7Z1C7;B7Z2F6;F5H0H3;B7ZLP5;A0AV56;Q15424;B7ZLP6	.;.;.;.;.;SAFB1_HUMAN;.	H	667;631;566;736;578	ENSP00000415895:Y667H;ENSP00000404545:Y566H;ENSP00000292123:Y736H;ENSP00000438880:Y578H	ENSP00000292123:Y736H	Y	+	1	0	SAFB	5615085	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.510000	0.67018	2.008000	0.58898	0.460000	0.39030	TAC		0.622	SAFB-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000451641.2			C	5664085	T	C	5664085	3	2	804	1	0	0	0	0	1	0	0	0	13812	1522	53	3	2268	3	SAFB	19	5664085	Missense_Mutation	SNP	T	TCGA-UZ-A9PP-01A-11D-A42J-10	4245748	5664085	53464898	55	47995											
MLLT1	4298	hgsc.bcm.edu	37	19	6270658	6270658	+	Missense_Mutation	SNP	C	C	T			TCGA-UZ-A9PP-01A-11D-A42J-10	TCGA-UZ-A9PP-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b34905a0-79be-4958-821c-f27af735d65e	09c514d0-26ff-4e99-b400-1019a9243565	g.chr19:6270658C>T	ENST00000252674.7	-	2	288	c.125G>A	c.(124-126)tGt>tAt	p.C42Y		NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	42	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						CTGGATGTCACATTGCTCGGG	0.627			T	MLL	AL						OREG0025198	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											Dom	yes		19	19p13.3	4298	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)"		L	0													119	92	101					19																	6270658		2203	4300	6503	SO:0001583	missense	4298				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.125G>A	chr19.hg19:g.6270658C>T	ENSP00000252674:p.Cys42Tyr	632	Q14768	Missense_Mutation	SNP	ENST00000252674.7	hg19	CCDS12160.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.745359	0.49151	.	.	ENSG00000130382	ENST00000252674	.	.	.	5.41	5.41	0.78517	.	0.154638	0.64402	D	0.000013	T	0.29458	0.0734	N	0.08118	0	0.46317	D	0.998986	B	0.19200	0.034	B	0.17979	0.02	T	0.17471	-1.0368	9	0.15952	T	0.53	-10.324	10.1806	0.42965	0.0:0.9095:0.0:0.0905	.	42	Q03111	ENL_HUMAN	Y	42	.	ENSP00000252674:C42Y	C	-	2	0	MLLT1	6221658	0.991000	0.36638	0.969000	0.41365	0.970000	0.65996	6.004000	0.70709	2.537000	0.85549	0.561000	0.74099	TGT		0.627	MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452909.1	NM_005934		T	6270658	C	T	6270658	3	4	804	1	0	0	0	0	1	0	0	0	9627	478	17	2	1598	2	MLLT1	19	6270658	Missense_Mutation	SNP	C	TCGA-UZ-A9PP-01A-11D-A42J-10	606573	6270658	52858325	56	47996											
MUC16	94025	hgsc.bcm.edu	37	19	9064158	9064158	+	Missense_Mutation	SNP	G	G	C	rs567112342		TCGA-UZ-A9PP-01A-11D-A42J-10	TCGA-UZ-A9PP-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b34905a0-79be-4958-821c-f27af735d65e	09c514d0-26ff-4e99-b400-1019a9243565	g.chr19:9064158G>C	ENST00000397910.4	-	3	23491	c.23288C>G	c.(23287-23289)aCa>aGa	p.T7763R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7765	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						CACGGCTTCTGTATGTGCAGT	0.488													g|||	1	0.000199681	0.0	0.0	5008	,	,		22175	0.0		0.0	False		,,,				2504	0.001															0													370	348	355					19																	9064158		2079	4201	6280	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.23288C>G	chr19.hg19:g.9064158G>C	ENSP00000381008:p.Thr7763Arg		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	hg19	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	3.147	-0.175028	0.06421	.	.	ENSG00000181143	ENST00000397910	T	0.28666	1.6	1.52	1.52	0.23074	.	.	.	.	.	T	0.35335	0.0928	L	0.34521	1.04	.	.	.	D	0.71674	0.998	P	0.61328	0.887	T	0.45234	-0.9275	8	0.87932	D	0	.	6.441	0.21849	0.0:0.0:1.0:0.0	.	7763	B5ME49	.	R	7763	ENSP00000381008:T7763R	ENSP00000381008:T7763R	T	-	2	0	MUC16	8925158	0.000000	0.05858	0.002000	0.10522	0.006000	0.05464	-0.908000	0.04063	1.138000	0.42230	0.195000	0.17529	ACA		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		C	9064158	G	C	9064158	3	2	804	1	0	0	0	0	1	0	0	0	9975	1377	48	4	20563	4	MUC16	19	9064158	Missense_Mutation	SNP	G	TCGA-UZ-A9PP-01A-11D-A42J-10	2793500	9064158	50064825	57	47997											
PRKCSH	5589	hgsc.bcm.edu	37	19	11558367	11558367	+	Silent	SNP	G	G	A			TCGA-UZ-A9PP-01A-11D-A42J-10	TCGA-UZ-A9PP-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b34905a0-79be-4958-821c-f27af735d65e	09c514d0-26ff-4e99-b400-1019a9243565	g.chr19:11558367G>A	ENST00000589838.1	+	10	963	c.963G>A	c.(961-963)gaG>gaA	p.E321E	PRKCSH_ENST00000592741.1_Silent_p.E321E|PRKCSH_ENST00000587327.1_Silent_p.E321E|PRKCSH_ENST00000412601.1_Silent_p.E321E|PRKCSH_ENST00000252455.2_Silent_p.E321E|PRKCSH_ENST00000591462.1_Silent_p.E321E			P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	321	Glu-rich (acidic).				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)	p.E321_E322delEE(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						aggaggaggaggaggaagaag	0.632																																																1	Deletion - In frame(1)	central_nervous_system(1)											28	28	28					19																	11558367		2200	4298	6498	SO:0001819	synonymous_variant	5589				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.963G>A	chr19.hg19:g.11558367G>A			A8K318|Q96BU9|Q96D06|Q9P0W9	Silent	SNP	ENST00000589838.1	hg19	CCDS32911.1																																																																																				0.632	PRKCSH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458817.1			A	11558367	G	A	11558367	2	1	804	1	0	0	0	0	0	0	0	1	12521	991	35	2		2	PRKCSH	19	11558367	Silent	SNP	G	TCGA-UZ-A9PP-01A-11D-A42J-10	2494209	11558367	47570616	58	47998											
AKAP8	10270	hgsc.bcm.edu	37	19	15483755	15483755	+	Silent	SNP	G	G	A			TCGA-UZ-A9PP-01A-11D-A42J-10	TCGA-UZ-A9PP-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b34905a0-79be-4958-821c-f27af735d65e	09c514d0-26ff-4e99-b400-1019a9243565	g.chr19:15483755G>A	ENST00000269701.2	-	5	828	c.768C>T	c.(766-768)taC>taT	p.Y256Y		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	256					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						CCATCACGCCGTAGTCGGGAG	0.692																																					GBM(190;1671 2163 3274 27186 30476)											0													16	17	17					19																	15483755		2202	4296	6498	SO:0001819	synonymous_variant	10270			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.768C>T	chr19.hg19:g.15483755G>A				Silent	SNP	ENST00000269701.2	hg19	CCDS12329.1																																																																																				0.692	AKAP8-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461293.3	NM_005858		A	15483755	G	A	15483755	2	1	804	1	0	0	0	0	0	0	0	1	457	1140	40	1		1	AKAP8	19	15483755	Silent	SNP	G	TCGA-UZ-A9PP-01A-11D-A42J-10	3925388	15483755	43645228	59	47999											
ATP1A3	478	hgsc.bcm.edu	37	19	42482815	42482815	+	Nonsense_Mutation	SNP	T	T	A			TCGA-UZ-A9PP-01A-11D-A42J-10	TCGA-UZ-A9PP-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b34905a0-79be-4958-821c-f27af735d65e	09c514d0-26ff-4e99-b400-1019a9243565	g.chr19:42482815T>A	ENST00000302102.5	-	12	1723	c.1573A>T	c.(1573-1575)Aag>Tag	p.K525*	ATP1A3_ENST00000545399.1_Nonsense_Mutation_p.K538*|ATP1A3_ENST00000602133.1_Nonsense_Mutation_p.K495*|ATP1A3_ENST00000543770.1_Nonsense_Mutation_p.K536*	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	525					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						AAGGCCTCCTTCATTTCCTCG	0.662																																																0													79	73	75					19																	42482815		2203	4300	6503	SO:0001587	stop_gained	478				CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"ATPases / P-type"	801	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-3", "sodium pump subunit alpha-3", "sodium-potassium ATPase catalytic subunit alpha-3"	182350	"dystonia 12"	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.1573A>T	chr19.hg19:g.42482815T>A	ENSP00000302397:p.Lys525*		B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Nonsense_Mutation	SNP	ENST00000302102.5	hg19	CCDS12594.1	.	.	.	.	.	.	.	.	.	.	T	40	8.091975	0.98648	.	.	ENSG00000105409	ENST00000302102;ENST00000441343;ENST00000545399;ENST00000368080;ENST00000535899;ENST00000543770	.	.	.	4.02	4.02	0.46733	.	0.174631	0.48286	D	0.000184	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.2493	0.49015	0.0:0.0:0.0:1.0	.	.	.	.	X	525;525;538;495;269;536	.	ENSP00000302397:K525X	K	-	1	0	ATP1A3	47174655	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	2.706000	0.47135	1.833000	0.53350	0.459000	0.35465	AAG		0.662	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268107.1	NM_152296		A	42482815	T	A	42482815	4	1	804	1	0	0	0	0	0	1	0	0	1130	1792	62	5	1516	5	ATP1A3	19	42482815	Nonsense_Mutation	SNP	T	TCGA-UZ-A9PP-01A-11D-A42J-10	26999060	42482815	16646168	60	48000											
APOC4	346	hgsc.bcm.edu	37	19	45448498	45448498	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9PP-01A-11D-A42J-10	TCGA-UZ-A9PP-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b34905a0-79be-4958-821c-f27af735d65e	09c514d0-26ff-4e99-b400-1019a9243565	g.chr19:45448498G>A	ENST00000592954.1	+	3	360	c.320G>A	c.(319-321)aGc>aAc	p.S107N	APOC4-APOC2_ENST00000589057.1_Intron|APOC2_ENST00000591597.1_5'Flank|APOC4_ENST00000419266.2_Missense_Mutation_p.S107N|APOC2_ENST00000590360.1_5'Flank|APOC2_ENST00000252490.4_5'Flank|APOC2_ENST00000592257.1_5'Flank	NM_001646.2	NP_001637.1	P55056	APOC4_HUMAN	apolipoprotein C-IV	107					lipid metabolic process (GO:0006629)|positive regulation of sequestering of triglyceride (GO:0010890)|triglyceride homeostasis (GO:0070328)	high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	lipid transporter activity (GO:0005319)			breast(1)|endometrium(1)|lung(2)	4	Lung NSC(12;0.00858)|all_lung(12;0.0197)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00334)|Epithelial(262;0.178)		TCCAAAGACAGCCTCTTGAAG	0.577																																																0													180	178	179					19																	45448498		2203	4300	6503	SO:0001583	missense	346			U32576	CCDS12649.1	19q13.2	2013-09-30			ENSG00000267467	ENSG00000267467		"Apolipoproteins"	611	protein-coding gene	gene with protein product		600745				8530039	Standard	NM_001646		Approved			P55056	OTTHUMG00000180845	ENST00000592954.1:c.320G>A	chr19.hg19:g.45448498G>A	ENSP00000468236:p.Ser107Asn		B3KWY6|Q53YY8	Missense_Mutation	SNP	ENST00000592954.1	hg19	CCDS12649.1	.	.	.	.	.	.	.	.	.	.	G	7.462	0.644959	0.14451	.	.	ENSG00000224916	ENST00000419266;ENST00000436871	T;T	0.23348	1.91;1.91	4.26	-2.32	0.06745	.	1.088790	0.07066	N	0.834612	T	0.16041	0.0386	L	0.38838	1.175	0.09310	N	1	B	0.14805	0.011	B	0.12837	0.008	T	0.34875	-0.9811	10	0.16420	T	0.52	-3.9741	4.8774	0.13664	0.4377:0.1779:0.3844:0.0	.	107	P55056	APOC4_HUMAN	N	107	ENSP00000406381:S107N;ENSP00000412935:S107N	ENSP00000406381:S107N	S	+	2	0	APOC4	50140338	0.001000	0.12720	0.422000	0.26621	0.142000	0.21351	0.285000	0.18883	-0.339000	0.08401	0.298000	0.19748	AGC		0.577	APOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453255.1	NM_001646		A	45448498	G	A	45448498	3	1	804	1	0	0	0	0	1	0	0	0	800	971	34	2	330	2	APOC4	19	45448498	Missense_Mutation	SNP	G	TCGA-UZ-A9PP-01A-11D-A42J-10	2965683	45448498	13680485	61	48001											
MYH14	79784	hgsc.bcm.edu	37	19	50714027	50714028	+	Splice_Site	DNP	CG	CG	TC			TCGA-UZ-A9PP-01A-11D-A42J-10	TCGA-UZ-A9PP-10A-01D-A42M-10	C|G	C|G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b34905a0-79be-4958-821c-f27af735d65e	09c514d0-26ff-4e99-b400-1019a9243565	g.chr19:50714027_50714028CG>TC	ENST00000596571.1	+	1	405	c.405_405CG>TC	c.(403-405)taCG>taTCg	p.Y135Y	MYH14_ENST00000601313.1_Splice_Site_p.Y135Y|MYH14_ENST00000440075.2_Splice_Site_p.Y135Y|MYH14_ENST00000376970.2_Splice_Site_p.Y135Y|MYH14_ENST00000425460.1_Splice_Site_p.Y135Y|MYH14_ENST00000598205.1_Splice_Site_p.Y135Y|MYH14_ENST00000262269.8_Splice_Site_p.Y135Y			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	135	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)		GCCTCATCTACGTGAGTGGGCT	0.644																																																0																																										SO:0001630	splice_region_variant	79784			AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"Myosins / Myosin superfamily : Class II"	23212	protein-coding gene	gene with protein product		608568	"myosin, heavy polypeptide 14", "myosin, heavy chain 14"	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		Exception_encountered	chr19.hg19:g.50714027_50714028delinsTC			B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Silent|Splice_Site	SNP	ENST00000596571.1	hg19	CCDS59411.1																																																																																				0.644	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729	Silent	TC	50714028	CG	TC	50714027	5	4	804	1	0	0	0	0	0	0	1	0	10035	550	19	1	407	1	MYH14	19	50714027	Splice_Site	DNP	CG	TCGA-UZ-A9PP-01A-11D-A42J-10	5265529	50714027	8414956	62	48002											
ESF1	51575	hgsc.bcm.edu	37	20	13763764	13763765	+	Frame_Shift_Ins	INS	-	-	T			TCGA-UZ-A9PP-01A-11D-A42J-10	TCGA-UZ-A9PP-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b34905a0-79be-4958-821c-f27af735d65e	09c514d0-26ff-4e99-b400-1019a9243565	g.chr20:13763764_13763765insT	ENST00000202816.1	-	2	129_130	c.22_23insA	c.(22-24)atgfs	p.M8fs	NDUFAF5_ENST00000463598.1_5'Flank|NDUFAF5_ENST00000378106.5_5'Flank	NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	8					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						CTGGTCACTCATTATTTCTTGT	0.347																																																0																																										SO:0001589	frameshift_variant	51575				CCDS13117.1	20p12.1	2007-02-12	2006-11-13	2006-11-13	ENSG00000089048	ENSG00000089048			15898	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 6"	C20orf6			Standard	NM_016649		Approved	bA526K24.1	uc002wok.2	Q9H501	OTTHUMG00000031906	ENST00000202816.1:c.23dupA	chr20.hg19:g.13763766_13763766dupT	ENSP00000202816:p.Met8fs		Q86X92|Q9H9Q5|Q9HA35|Q9NX93|Q9P1S6	Frame_Shift_Ins	INS	ENST00000202816.1	hg19	CCDS13117.1																																																																																				0.347	ESF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078049.1	NM_016649		T	13763765	-	T	13763764	7	5	804	1	0	1	1	0	0	0	0	0	5253	217	8	0	2584	0	ESF1	20	13763764	Frame_Shift_Ins	INS	-	TCGA-UZ-A9PP-01A-11D-A42J-10		13763764	49261756	63	48003											
PHF20	51230	hgsc.bcm.edu	37	20	34459634	34459634	+	Missense_Mutation	SNP	G	G	C			TCGA-UZ-A9PP-01A-11D-A42J-10	TCGA-UZ-A9PP-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b34905a0-79be-4958-821c-f27af735d65e	09c514d0-26ff-4e99-b400-1019a9243565	g.chr20:34459634G>C	ENST00000374012.3	+	9	1294	c.1165G>C	c.(1165-1167)Ggg>Cgg	p.G389R	PHF20_ENST00000481202.1_3'UTR|PHF20_ENST00000439301.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	389					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)					CCACTCCTTTGGGGATGGATC	0.478																																																0													120	122	121					20																	34459634		2203	4300	6503	SO:0001583	missense	51230			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.1165G>C	chr20.hg19:g.34459634G>C	ENSP00000363124:p.Gly389Arg		A7E235|B2RB56|E1P5S3|Q566Q2|Q5JWY9|Q66K49|Q9BWV4|Q9BXA3|Q9BZW3|Q9H421|Q9H4J6|Q9NZ22	Missense_Mutation	SNP	ENST00000374012.3	hg19	CCDS13268.1	.	.	.	.	.	.	.	.	.	.	G	17.38	3.374080	0.61735	.	.	ENSG00000025293	ENST00000374012;ENST00000339089;ENST00000374000	T;T;T	0.45668	1.51;0.89;0.89	5.62	5.62	0.85841	.	0.181111	0.47455	D	0.000222	T	0.42653	0.1212	L	0.43152	1.355	0.80722	D	1	P;P	0.51933	0.845;0.949	P;P	0.49752	0.467;0.621	T	0.11227	-1.0596	10	0.11485	T	0.65	.	15.156	0.72743	0.0:0.0:1.0:0.0	.	389;389	Q9BVI0;Q66K49	PHF20_HUMAN;.	R	389	ENSP00000363124:G389R;ENSP00000341900:G389R;ENSP00000363112:G389R	ENSP00000341900:G389R	G	+	1	0	PHF20	33923048	1.000000	0.71417	0.987000	0.45799	0.629000	0.37895	4.775000	0.62346	2.652000	0.90054	0.591000	0.81541	GGG		0.478	PHF20-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078949.2	NM_016436		C	34459634	G	C	34459634	3	2	804	1	0	0	0	0	1	0	0	0	11833	1348	47	4	1195	4	PHF20	20	34459634	Missense_Mutation	SNP	G	TCGA-UZ-A9PP-01A-11D-A42J-10	20695870	34459634	28565886	64	48004											
SEMG2	6407	hgsc.bcm.edu	37	20	43850357	43850357	+	Frame_Shift_Del	DEL	A	A	-	rs372121807		TCGA-UZ-A9PP-01A-11D-A42J-10	TCGA-UZ-A9PP-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b34905a0-79be-4958-821c-f27af735d65e	09c514d0-26ff-4e99-b400-1019a9243565	g.chr20:43850357delA	ENST00000372769.3	+	2	174	c.84delA	c.(82-84)tcafs	p.S28fs		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	28					sexual reproduction (GO:0019953)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				CAGGTGGATCAAAAGGCCAAT	0.398																																																0													81	80	80					20																	43850357		2203	4300	6503	SO:0001589	frameshift_variant	6407				CCDS13346.1	20q12-q13.1	2008-07-02			ENSG00000124157	ENSG00000124157			10743	protein-coding gene	gene with protein product	"Semenogelin 2"	182141				1517240, 9523691	Standard	NM_003008		Approved	SGII	uc002xnk.3	Q02383	OTTHUMG00000032566	ENST00000372769.3:c.84delA	chr20.hg19:g.43850357delA	ENSP00000361855:p.Ser28fs		Q53ZU2|Q6X2M5|Q6X2M6	Frame_Shift_Del	DEL	ENST00000372769.3	hg19	CCDS13346.1																																																																																				0.398	SEMG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079417.1	NM_003008		-	43850357	A	-	43850357	7	5	804	1	0	1	0	1	0	0	0	0	14051	117	5	0	90	0	SEMG2	20	43850357	Frame_Shift_Del	DEL	A	TCGA-UZ-A9PP-01A-11D-A42J-10	9390723	43850357	19175163	65	48005											
PRIC285	85441	hgsc.bcm.edu	37	20	62193551	62193551	+	Missense_Mutation	SNP	G	G	C			TCGA-UZ-A9PP-01A-11D-A42J-10	TCGA-UZ-A9PP-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b34905a0-79be-4958-821c-f27af735d65e	09c514d0-26ff-4e99-b400-1019a9243565	g.chr20:62193551G>C	ENST00000467148.1	-	10	6472	c.6403C>G	c.(6403-6405)Ccc>Gcc	p.P2135A	HELZ2_ENST00000427522.2_Missense_Mutation_p.P1566A	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	2135	Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										AACCTGCTGGGGATCACTGAG	0.672																																																0													11	13	13					20																	62193551		2168	4244	6412	SO:0001583	missense	85441			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.6403C>G	chr20.hg19:g.62193551G>C	ENSP00000417401:p.Pro2135Ala		Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	hg19	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	G	9.651	1.141671	0.21205	.	.	ENSG00000130589	ENST00000427522;ENST00000467148	T;T	0.80033	-1.33;-1.22	2.52	-1.22	0.09494	.	1.595590	0.03742	N	0.255101	T	0.72162	0.3426	L	0.47716	1.5	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.54629	-0.8265	10	0.66056	D	0.02	-10.8255	2.2456	0.04031	0.1157:0.1269:0.3287:0.4288	.	2135;1566	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	A	1566;2135	ENSP00000393257:P1566A;ENSP00000417401:P2135A	ENSP00000393257:P1566A	P	-	1	0	RP4-697K14.7	61663995	0.000000	0.05858	0.005000	0.12908	0.703000	0.40648	-0.571000	0.05889	-0.220000	0.09988	0.313000	0.20887	CCC		0.672	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		C	62193551	G	C	62193551	3	2	804	1	0	0	0	0	1	0	0	0	12490	1232	43	4	1586	4	PRIC285	20	62193551	Missense_Mutation	SNP	G	TCGA-UZ-A9PP-01A-11D-A42J-10	18343194	62193551	831969	66	48006											
IL10RB	3588	hgsc.bcm.edu	37	21	34648956	34648956	+	Missense_Mutation	SNP	T	T	A			TCGA-UZ-A9PP-01A-11D-A42J-10	TCGA-UZ-A9PP-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b34905a0-79be-4958-821c-f27af735d65e	09c514d0-26ff-4e99-b400-1019a9243565	g.chr21:34648956T>A	ENST00000290200.2	+	3	337	c.229T>A	c.(229-231)Tca>Aca	p.S77T	AP000295.9_ENST00000433395.2_Silent_p.S204S	NM_000628.4	NP_000619.3	Q08334	I10R2_HUMAN	interleukin 10 receptor, beta	77	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|immune response (GO:0006955)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|interleukin-28 receptor complex (GO:0032002)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						ATGTGATTTCTCAAGTCTTTC	0.413																																					Melanoma(67;315 1275 21667 21943 44564)											0													226	201	209					21																	34648956		2203	4300	6503	SO:0001583	missense	3588			U08988	CCDS13623.1	21q22.11	2014-09-17			ENSG00000243646	ENSG00000243646		"Interleukins and interleukin receptors", "CD molecules"	5965	protein-coding gene	gene with protein product		123889		CRFB4, D21S58, D21S66		8314576, 9312047	Standard	NM_000628		Approved	CRF2-4, CDW210B, IL-10R2		Q08334	OTTHUMG00000065128	ENST00000290200.2:c.229T>A	chr21.hg19:g.34648956T>A	ENSP00000290200:p.Ser77Thr		Q9BUU4	Missense_Mutation	SNP	ENST00000290200.2	hg19	CCDS13623.1	.	.	.	.	.	.	.	.	.	.	T	15.79	2.937266	0.52972	.	.	ENSG00000243646	ENST00000290200;ENST00000539894	T	0.69435	-0.4	5.73	4.55	0.56014	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.148799	0.44902	D	0.000416	T	0.71239	0.3316	L	0.55017	1.72	0.28360	N	0.920525	D;D;D;P	0.89917	1.0;1.0;1.0;0.947	D;D;D;P	0.75484	0.986;0.986;0.986;0.668	T	0.62647	-0.6810	10	0.02654	T	1	-5.4307	10.0206	0.42041	0.0:0.0:0.1697:0.8303	.	79;77;77;77	Q6ZVU9;Q08334;B4DSX5;F5H766	.;I10R2_HUMAN;.;.	T	77	ENSP00000290200:S77T	ENSP00000290200:S77T	S	+	1	0	IL10RB	33570826	1.000000	0.71417	0.957000	0.39632	0.271000	0.26615	4.110000	0.57831	1.066000	0.40716	0.533000	0.62120	TCA		0.413	IL10RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139831.3			A	34648956	T	A	34648956	3	1	804	1	0	0	0	0	1	0	0	0	7623	1551	54	5	239	5	IL10RB	21	34648956	Missense_Mutation	SNP	T	TCGA-UZ-A9PP-01A-11D-A42J-10		34648956	13480939	67	48007											
COL18A1	80781	hgsc.bcm.edu	37	21	46896343	46896343	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9PP-01A-11D-A42J-10	TCGA-UZ-A9PP-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b34905a0-79be-4958-821c-f27af735d65e	09c514d0-26ff-4e99-b400-1019a9243565	g.chr21:46896343G>A	ENST00000359759.4	+	5	2143	c.2122G>A	c.(2122-2124)Gat>Aat	p.D708N	COL18A1_ENST00000400337.2_Missense_Mutation_p.D293N|COL18A1_ENST00000355480.5_Missense_Mutation_p.D473N			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	708	Nonhelical region 1 (NC1).				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)		CAGCACGGAAGATTCCAGAAG	0.627																																																0													73	78	76					21																	46896343		2092	4213	6305	SO:0001583	missense	80781				CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"Collagens"	2195	protein-coding gene	gene with protein product	"endostatin"	120328	"Knobloch syndrome, type 1"	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.2122G>A	chr21.hg19:g.46896343G>A	ENSP00000352798:p.Asp708Asn		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Missense_Mutation	SNP	ENST00000359759.4	hg19		.	.	.	.	.	.	.	.	.	.	G	14.41	2.526689	0.44969	.	.	ENSG00000182871	ENST00000400337;ENST00000400347;ENST00000355480;ENST00000359759;ENST00000539645	D;D;D	0.90788	-2.73;-2.69;-2.6	3.85	2.95	0.34219	.	0.864751	0.10135	U	0.711574	D	0.86439	0.5933	L	0.39245	1.2	0.09310	N	0.999996	P;P;P	0.49961	0.884;0.93;0.827	B;P;B	0.44647	0.341;0.456;0.342	T	0.74811	-0.3538	10	0.30854	T	0.27	.	7.9022	0.29742	0.1233:0.0:0.8766:0.0	.	708;473;293	P39060;P39060-1;P39060-2	COIA1_HUMAN;.;.	N	293;293;473;708;708	ENSP00000383191:D293N;ENSP00000347665:D473N;ENSP00000352798:D708N	ENSP00000347665:D473N	D	+	1	0	COL18A1	45720771	0.542000	0.26426	0.214000	0.23707	0.174000	0.22865	3.652000	0.54439	0.918000	0.36919	0.391000	0.25812	GAT		0.627	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1			A	46896343	G	A	46896343	3	1	804	1	0	0	0	0	1	0	0	0	3677	942	33	2	2254	2	COL18A1	21	46896343	Missense_Mutation	SNP	G	TCGA-UZ-A9PP-01A-11D-A42J-10	12247387	46896343	1233552	68	48008											
TRMT2A	27037	hgsc.bcm.edu	37	22	20104104	20104104	+	Missense_Mutation	SNP	T	T	C			TCGA-UZ-A9PP-01A-11D-A42J-10	TCGA-UZ-A9PP-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b34905a0-79be-4958-821c-f27af735d65e	09c514d0-26ff-4e99-b400-1019a9243565	g.chr22:20104104T>C	ENST00000252136.7	-	2	444	c.56A>G	c.(55-57)gAg>gGg	p.E19G	RANBP1_ENST00000331821.3_5'Flank|TRMT2A_ENST00000403707.3_Missense_Mutation_p.E19G|TRMT2A_ENST00000492988.1_5'Flank|TRMT2A_ENST00000439169.2_Missense_Mutation_p.E19G|RANBP1_ENST00000402752.1_5'Flank|TRMT2A_ENST00000404751.3_Missense_Mutation_p.E19G|RANBP1_ENST00000430524.1_Intron	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)	19					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						ACTGCTGCTCTCCTGGCCACA	0.697																																																0													17	22	20					22																	20104104		2106	4119	6225	SO:0001583	missense	27037			BC017184	CCDS13774.1, CCDS58793.1	22q11.21	2014-02-12	2012-06-12		ENSG00000099899	ENSG00000099899			24974	protein-coding gene	gene with protein product	"HpaII tiny fragments locus 9C"	611151				9417108, 18075473	Standard	NM_022727		Approved	HTF9C	uc002zrl.2	Q8IZ69	OTTHUMG00000150454	ENST00000252136.7:c.56A>G	chr22.hg19:g.20104104T>C	ENSP00000252136:p.Glu19Gly		D3DX25|Q32P57|Q96ME6|Q9H732	Missense_Mutation	SNP	ENST00000252136.7	hg19	CCDS13774.1	.	.	.	.	.	.	.	.	.	.	T	16.64	3.180784	0.57800	.	.	ENSG00000099899	ENST00000252136;ENST00000403707;ENST00000404751;ENST00000439169;ENST00000445045	T;T;T	0.44083	0.93;0.93;0.93	5.01	5.01	0.66863	.	0.442996	0.22937	N	0.053835	T	0.31009	0.0783	L	0.29908	0.895	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.07947	-1.0746	10	0.36615	T	0.2	-5.047	11.3948	0.49836	0.0:0.0:0.0:1.0	.	19;19;19	B4E213;F2Z2W7;Q8IZ69	.;.;TRM2A_HUMAN	G	19;19;19;19;7	ENSP00000252136:E19G;ENSP00000385807:E19G;ENSP00000395738:E19G	ENSP00000252136:E19G	E	-	2	0	TRMT2A	18484104	0.543000	0.26434	0.144000	0.22314	0.089000	0.18198	0.964000	0.29306	2.023000	0.59567	0.402000	0.26972	GAG		0.697	TRMT2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318168.3	NM_022727		C	20104104	T	C	20104104	3	2	804	1	0	0	0	0	1	0	0	0	16570	1551	54	3	1865	3	TRMT2A	22	20104104	Missense_Mutation	SNP	T	TCGA-UZ-A9PP-01A-11D-A42J-10		20104104	31200462	69	48009											
PNPLA4	8228	hgsc.bcm.edu	37	X	7868821	7868821	+	Missense_Mutation	SNP	A	A	G			TCGA-UZ-A9PP-01A-11D-A42J-10	TCGA-UZ-A9PP-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b34905a0-79be-4958-821c-f27af735d65e	09c514d0-26ff-4e99-b400-1019a9243565	g.chrX:7868821A>G	ENST00000381042.4	-	7	838	c.668T>C	c.(667-669)cTt>cCt	p.L223P	PNPLA4_ENST00000444736.1_Missense_Mutation_p.L223P|PNPLA4_ENST00000537427.1_Missense_Mutation_p.L136P	NM_004650.2	NP_004641.1	P41247	PLPL4_HUMAN	patatin-like phospholipase domain containing 4	223					lipid catabolic process (GO:0016042)		triglyceride lipase activity (GO:0004806)			kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7		Colorectal(8;0.0329)|Medulloblastoma(8;0.232)				TGGGGGAAAAAGGGCTTGGTT	0.353																																																0													57	52	54					X																	7868821		2203	4299	6502	SO:0001583	missense	8228			U03886	CCDS14129.1, CCDS55368.1	Xp22.3	2014-03-14			ENSG00000006757	ENSG00000006757	3.1.1.3	"Patatin-like phospholipase domain containing"	24887	protein-coding gene	gene with protein product		300102				7806223, 16799181, 19029121	Standard	NM_004650		Approved	DXS1283E, GS2, iPLA2eta	uc011mhr.1	P41247	OTTHUMG00000021103	ENST00000381042.4:c.668T>C	chrX.hg19:g.7868821A>G	ENSP00000370430:p.Leu223Pro		A8K1H3|B4E362|Q8WW83	Missense_Mutation	SNP	ENST00000381042.4	hg19	CCDS14129.1	.	.	.	.	.	.	.	.	.	.	A	13.79	2.341460	0.41498	.	.	ENSG00000006757	ENST00000381042;ENST00000444736;ENST00000537427	T;T;T	0.81078	-1.45;-1.45;-1.45	4.38	4.38	0.52667	Acyl transferase/acyl hydrolase/lysophospholipase (1);	0.193685	0.33127	N	0.005243	D	0.89866	0.6839	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	D	0.90635	0.4570	10	0.87932	D	0	-22.634	9.3053	0.37872	1.0:0.0:0.0:0.0	.	223	P41247	PLPL4_HUMAN	P	223;223;136	ENSP00000370430:L223P;ENSP00000415245:L223P;ENSP00000443157:L136P	ENSP00000370430:L223P	L	-	2	0	PNPLA4	7828821	1.000000	0.71417	0.139000	0.22197	0.388000	0.30384	5.486000	0.66856	1.452000	0.47756	0.481000	0.45027	CTT		0.353	PNPLA4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055687.1	NM_004650		G	7868821	A	G	7868821	3	3	804	1	0	0	0	0	1	0	0	0	12169	72	3	3	97	3	PNPLA4	23	7868821	Missense_Mutation	SNP	A	TCGA-UZ-A9PP-01A-11D-A42J-10		7868821	147401739	70	48010											
BCOR	54880	hgsc.bcm.edu	37	X	39930898	39930898	+	Missense_Mutation	SNP	A	A	G			TCGA-UZ-A9PP-01A-11D-A42J-10	TCGA-UZ-A9PP-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b34905a0-79be-4958-821c-f27af735d65e	09c514d0-26ff-4e99-b400-1019a9243565	g.chrX:39930898A>G	ENST00000378444.4	-	5	3271	c.3043T>C	c.(3043-3045)Tac>Cac	p.Y1015H	BCOR_ENST00000397354.3_Missense_Mutation_p.Y1015H|BCOR_ENST00000342274.4_Missense_Mutation_p.Y1015H|BCOR_ENST00000378455.4_Intron	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1015					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						ACCTCACAGTAAGCAGCGGGT	0.328			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic																																Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		0													82	77	79					X																	39930898		2202	4296	6498	SO:0001583	missense	54880			AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"Ankyrin repeat domain containing"	20893	protein-coding gene	gene with protein product		300485	"BCL6 co-repressor"			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.3043T>C	chrX.hg19:g.39930898A>G	ENSP00000367705:p.Tyr1015His		D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Missense_Mutation	SNP	ENST00000378444.4	hg19	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	A	16.01	3.002638	0.54254	.	.	ENSG00000183337	ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200	T;T;T;T	0.12879	2.64;2.64;2.64;2.64	5.87	5.87	0.94306	.	.	.	.	.	T	0.19087	0.0458	L	0.29908	0.895	0.34462	D	0.701845	D;P	0.57257	0.979;0.955	P;P	0.51487	0.671;0.542	T	0.14671	-1.0464	9	0.87932	D	0	-15.5403	15.4001	0.74834	1.0:0.0:0.0:0.0	.	1015;1015	Q6W2J9;Q6W2J9-2	BCOR_HUMAN;.	H	1015	ENSP00000380512:Y1015H;ENSP00000367705:Y1015H;ENSP00000345923:Y1015H;ENSP00000384485:Y1015H	ENSP00000345923:Y1015H	Y	-	1	0	BCOR	39815842	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.170000	0.64990	2.088000	0.63022	0.486000	0.48141	TAC		0.328	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		G	39930898	A	G	39930898	3	3	804	1	0	0	0	0	1	0	0	0	1386	362	13	3	2268	3	BCOR	23	39930898	Missense_Mutation	SNP	A	TCGA-UZ-A9PP-01A-11D-A42J-10	32062077	39930898	115339662	71	48011											
ATAD3B	83858	hgsc.bcm.edu	37	1	1426049	1426049	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr1:1426049C>T	ENST00000308647.7	+	15	1728	c.1612C>T	c.(1612-1614)Cag>Tag	p.Q538*		NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	538						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)		CGTGTCCTGGCAGGTGAGTCA	0.667																																																0													16	18	17					1																	1426049		2161	4212	6373	SO:0001587	stop_gained	83858			AL834179	CCDS30.1	1p36.33	2010-04-21		2007-02-08	ENSG00000160072	ENSG00000160072		"ATPases / AAA-type"	24007	protein-coding gene	gene with protein product		612317				10574462	Standard	XM_005244806		Approved	TOB3, KIAA1273	uc001afv.3	Q5T9A4	OTTHUMG00000000577	ENST00000308647.7:c.1612C>T	chr1.hg19:g.1426049C>T	ENSP00000311766:p.Gln538*		A8K3H1|Q6ZRB5|Q9BUK4|Q9ULE7	Nonsense_Mutation	SNP	ENST00000308647.7	hg19	CCDS30.1	.	.	.	.	.	.	.	.	.	.	c	24.8	4.566605	0.86439	.	.	ENSG00000160072	ENST00000378737;ENST00000308647	.	.	.	2.55	2.55	0.30701	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	12.43	0.55569	0.0:1.0:0.0:0.0	.	.	.	.	X	372;538	.	ENSP00000311766:Q538X	Q	+	1	0	ATAD3B	1415912	1.000000	0.71417	0.998000	0.56505	0.070000	0.16714	7.377000	0.79668	1.416000	0.47057	0.205000	0.17691	CAG		0.667	ATAD3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001369.2	NM_031921		T	1426049	C	T	1426049	4	4	805	1	0	0	0	0	0	1	0	0	1074	711	25	2	1670	2	ATAD3B	1	1426049	Nonsense_Mutation	SNP	C	TCGA-UZ-A9PR-01A-11D-A42J-10		1426049	247824572	1	48012											
MYSM1	114803	hgsc.bcm.edu	37	1	59165666	59165666	+	Missense_Mutation	SNP	G	G	T			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr1:59165666G>T	ENST00000472487.1	-	1	98	c.59C>A	c.(58-60)gCa>gAa	p.A20E		NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	20					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)					CCCTGGCTGTGCCCCCGCCGC	0.662																																																0													32	42	39					1																	59165666		1908	4114	6022	SO:0001583	missense	114803			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.59C>A	chr1.hg19:g.59165666G>T	ENSP00000418734:p.Ala20Glu		A8KA54|B3KX65|Q68DD3|Q6AI53|Q7Z3G8|Q96PX3	Missense_Mutation	SNP	ENST00000472487.1	hg19	CCDS41343.1	.	.	.	.	.	.	.	.	.	.	G	4.008	-0.001209	0.07819	.	.	ENSG00000162601	ENST00000472487	T	0.22134	1.97	4.53	1.54	0.23209	.	1.367050	0.04456	N	0.373450	T	0.13457	0.0326	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.26608	-1.0098	10	0.30854	T	0.27	-0.2712	4.2456	0.10670	0.2083:0.1914:0.6003:0.0	.	20	Q5VVJ2	MYSM1_HUMAN	E	20	ENSP00000418734:A20E	ENSP00000418734:A20E	A	-	2	0	MYSM1	58938254	0.995000	0.38212	0.098000	0.21074	0.449000	0.32228	2.129000	0.42055	0.597000	0.29811	0.561000	0.74099	GCA		0.662	MYSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026343.2	XM_055481		T	59165666	G	T	59165666	3	4	805	1	0	0	0	0	1	0	0	0	10103	1319	46	4	2507	4	MYSM1	1	59165666	Missense_Mutation	SNP	G	TCGA-UZ-A9PR-01A-11D-A42J-10	57739617	59165666	190084955	2	48013											
FUBP1	8880	hgsc.bcm.edu	37	1	78426050	78426050	+	Missense_Mutation	SNP	C	C	G			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr1:78426050C>G	ENST00000370768.2	-	15	1556	c.1475G>C	c.(1474-1476)gGa>gCa	p.G492A	FUBP1_ENST00000436586.2_Missense_Mutation_p.G513A|FUBP1_ENST00000370767.1_Missense_Mutation_p.G492A	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	492	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						GCCTGGTGGTCCAGGATTATA	0.532			"F, N"		oligodendroglioma																																		Rec	yes		1	1p13.1	8880	far upstream element (FUSE) binding protein 1		O	0													38	43	41					1																	78426050		2203	4300	6503	SO:0001583	missense	8880			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.1475G>C	chr1.hg19:g.78426050C>G	ENSP00000359804:p.Gly492Ala		Q12828	Missense_Mutation	SNP	ENST00000370768.2	hg19	CCDS683.1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.220035	0.58560	.	.	ENSG00000162613	ENST00000370773;ENST00000370767;ENST00000370768;ENST00000394922;ENST00000436586	T;T;T	0.34472	1.36;1.42;1.38	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.42381	0.1200	L	0.46741	1.465	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73708	0.981;0.981	T	0.05920	-1.0856	10	0.12103	T	0.63	-15.6155	19.9795	0.97321	0.0:1.0:0.0:0.0	.	513;492	B4DT31;Q96AE4	.;FUBP1_HUMAN	A	491;492;492;477;513	ENSP00000359803:G492A;ENSP00000359804:G492A;ENSP00000389536:G513A	ENSP00000294623:G491A	G	-	2	0	FUBP1	78198638	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.818000	0.86416	2.720000	0.93068	0.650000	0.86243	GGA		0.532	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		G	78426050	C	G	78426050	3	3	805	1	0	0	0	0	1	0	0	0	6094	855	30	4	483	4	FUBP1	1	78426050	Missense_Mutation	SNP	C	TCGA-UZ-A9PR-01A-11D-A42J-10	19260384	78426050	170824571	3	48014											
CCT3	7203	hgsc.bcm.edu	37	1	156303343	156303343	+	Missense_Mutation	SNP	A	A	G			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr1:156303343A>G	ENST00000295688.3	-	5	579	c.299T>C	c.(298-300)aTt>aCt	p.I100T	CCT3_ENST00000368256.3_5'UTR|CCT3_ENST00000368261.3_Missense_Mutation_p.I55T|CCT3_ENST00000368259.2_Missense_Mutation_p.I62T|CCT3_ENST00000472765.2_Missense_Mutation_p.I55T	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)	100					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					CTTACCAAGAATAATTACTGA	0.398																																																0													117	120	119					1																	156303343		2203	4300	6503	SO:0001583	missense	7203			BC008019	CCDS1140.2, CCDS30888.1	1q23	2011-09-02			ENSG00000163468	ENSG00000163468		"Heat Shock Proteins / Chaperonins"	1616	protein-coding gene	gene with protein product		600114		TRIC5		8110840	Standard	NM_005998		Approved	Cctg	uc001fol.2	P49368	OTTHUMG00000024061	ENST00000295688.3:c.299T>C	chr1.hg19:g.156303343A>G	ENSP00000295688:p.Ile100Thr		A6NE14|Q5SZY1|Q9BR64	Missense_Mutation	SNP	ENST00000295688.3	hg19	CCDS1140.2	.	.	.	.	.	.	.	.	.	.	A	24.9	4.583526	0.86748	.	.	ENSG00000163468	ENST00000295688;ENST00000368259;ENST00000368261;ENST00000472765;ENST00000413555;ENST00000496684;ENST00000533194;ENST00000446905;ENST00000478640;ENST00000415548	D;D;D;D;D;D;D;D;D;D	0.91577	-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-2.87	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.96658	0.8909	H	0.98005	4.125	0.80722	D	1	D;P;D	0.67145	0.996;0.916;0.99	D;P;D	0.71184	0.972;0.836;0.953	D	0.97801	1.0244	10	0.87932	D	0	-13.7794	12.6112	0.56552	1.0:0.0:0.0:0.0	.	62;100;100	P49368-2;E9PAQ6;P49368	.;.;TCPG_HUMAN	T	100;62;55;55;124;100;21;86;79;100	ENSP00000295688:I100T;ENSP00000357242:I62T;ENSP00000357244:I55T;ENSP00000431543:I55T;ENSP00000413308:I124T;ENSP00000434232:I100T;ENSP00000434481:I21T;ENSP00000388799:I86T;ENSP00000435026:I79T;ENSP00000413431:I100T	ENSP00000295688:I100T	I	-	2	0	CCT3	154569967	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.593000	0.90832	2.234000	0.73211	0.528000	0.53228	ATT		0.398	CCT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060602.3	NM_005998		G	156303343	A	G	156303343	3	3	805	1	0	0	0	0	1	0	0	0	2956	101	4	3	1378	3	CCT3	1	156303343	Missense_Mutation	SNP	A	TCGA-UZ-A9PR-01A-11D-A42J-10	77877293	156303343	92947278	4	48015											
SLAMF6	114836	hgsc.bcm.edu	37	1	160460386	160460386	+	Missense_Mutation	SNP	G	G	A	rs148686177		TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr1:160460386G>A	ENST00000368057.3	-	4	796	c.736C>T	c.(736-738)Ctt>Ttt	p.L246F	SLAMF6_ENST00000368059.3_Missense_Mutation_p.L246F|SLAMF6_ENST00000368055.1_Missense_Mutation_p.L135F			Q96DU3	SLAF6_HUMAN	SLAM family member 6	246						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			CTCAAAACAAGTAACAGCAGT	0.388																																																0								G	PHE/LEU,PHE/LEU,PHE/LEU,PHE/LEU	1,4405	2.1+/-5.4	0,1,2202	88	87	87		736,589,403,736	-6.6	0	1	dbSNP_134	87	0,8600		0,0,4300	no	missense,missense,missense,missense	SLAMF6	NM_001184714.1,NM_001184715.1,NM_001184716.1,NM_052931.4	22,22,22,22	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	246/333,197/283,135/222,246/332	160460386	1,13005	2203	4300	6503	SO:0001583	missense	114836			AL832854	CCDS1205.1, CCDS53393.1, CCDS53394.1	1q23.1	2013-01-29			ENSG00000162739	ENSG00000162739		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	21392	protein-coding gene	gene with protein product		606446				11489943	Standard	NM_052931		Approved	KALI, NTBA, KALIb, Ly108, SF2000, NTB-A, CD352	uc001fwe.2	Q96DU3	OTTHUMG00000022729	ENST00000368057.3:c.736C>T	chr1.hg19:g.160460386G>A	ENSP00000357036:p.Leu246Phe		A6NMW2|B2R8X8|Q14CF0|Q5TAS4|Q5TAS6|Q5TAT3|Q96DV0	Missense_Mutation	SNP	ENST00000368057.3	hg19	CCDS53394.1	.	.	.	.	.	.	.	.	.	.	G	1.642	-0.516181	0.04200	2.27E-4	0.0	ENSG00000162739	ENST00000368059;ENST00000368057;ENST00000368055	T;T;T	0.39592	1.07;1.07;1.07	3.27	-6.55	0.01854	.	7.407340	0.00166	N	0.000000	T	0.05227	0.0139	N	0.12182	0.205	0.09310	N	1	B;B;B;B;B	0.24963	0.001;0.01;0.002;0.115;0.115	B;B;B;B;B	0.19666	0.001;0.007;0.001;0.026;0.026	T	0.08046	-1.0741	10	0.15066	T	0.55	8.6317	2.1038	0.03686	0.3812:0.1275:0.3644:0.1269	.	135;135;197;246;246	B7Z6A7;Q5TAS6;B4E1U5;Q96DU3;B2R8X8	.;.;.;SLAF6_HUMAN;.	F	246;246;135	ENSP00000357038:L246F;ENSP00000357036:L246F;ENSP00000357034:L135F	ENSP00000357034:L135F	L	-	1	0	SLAMF6	158727010	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.995000	0.00317	-1.752000	0.01325	-0.302000	0.09304	CTT		0.388	SLAMF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059010.1	NM_052931		A	160460386	G	A	160460386	3	1	805	1	0	0	0	0	1	0	0	0	14374	1029	36	2	282	2	SLAMF6	1	160460386	Missense_Mutation	SNP	G	TCGA-UZ-A9PR-01A-11D-A42J-10	4157043	160460386	88790235	5	48016											
RABGAP1L	9910	hgsc.bcm.edu	37	1	174247864	174247864	+	Missense_Mutation	SNP	T	T	C			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr1:174247864T>C	ENST00000251507.4	+	10	1444	c.1270T>C	c.(1270-1272)Tgg>Cgg	p.W424R	RABGAP1L_ENST00000357444.6_Missense_Mutation_p.W387R|RABGAP1L_ENST00000367689.3_Missense_Mutation_p.W71R	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						TGAGCGATTTTGGTATTTCAG	0.423																																																0													151	154	153					1																	174247864		2203	4300	6503	SO:0001583	missense	9910			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.1270T>C	chr1.hg19:g.174247864T>C	ENSP00000251507:p.Trp424Arg		B7ZAA4	Missense_Mutation	SNP	ENST00000251507.4	hg19	CCDS1314.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.070853	0.76301	.	.	ENSG00000152061	ENST00000357444;ENST00000367689;ENST00000251507;ENST00000457696;ENST00000367692	T;T;T	0.53206	0.63;3.24;0.64	5.2	4.08	0.47627	.	0.000000	0.85682	D	0.000000	T	0.67785	0.2930	M	0.80982	2.52	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.976;1.0;1.0;1.0	D;P;D;D;D	0.91635	0.998;0.694;0.999;0.999;0.999	T	0.70303	-0.4909	10	0.87932	D	0	.	10.7636	0.46279	0.0:0.0752:0.0:0.9248	.	436;71;424;424;387	B7WPG6;Q5JZA9;F1LJ00;Q5R372;Q5R372-2	.;.;.;RBG1L_HUMAN;.	R	387;71;424;436;436	ENSP00000350027:W387R;ENSP00000251507:W424R;ENSP00000403136:W436R	ENSP00000251507:W424R	W	+	1	0	RABGAP1L	172514487	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.660000	0.83776	0.834000	0.34852	0.254000	0.18369	TGG		0.423	RABGAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084497.1	NM_001243765		C	174247864	T	C	174247864	3	2	805	1	0	0	0	0	1	0	0	0	12971	1812	63	3	1304	3	RABGAP1L	1	174247864	Missense_Mutation	SNP	T	TCGA-UZ-A9PR-01A-11D-A42J-10	13787478	174247864	75002757	6	48017											
TNN	63923	hgsc.bcm.edu	37	1	175087824	175087824	+	Silent	SNP	C	C	T			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr1:175087824C>T	ENST00000239462.4	+	11	2627	c.2514C>T	c.(2512-2514)acC>acT	p.T838T		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	838	Fibronectin type-III 7. {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)		ACGGAGAGACCAGGGAGGTTC	0.622																																																0													93	82	86					1																	175087824		2203	4300	6503	SO:0001819	synonymous_variant	63923			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.2514C>T	chr1.hg19:g.175087824C>T			B9EGP3|Q5R360	Silent	SNP	ENST00000239462.4	hg19	CCDS30943.1																																																																																				0.622	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		T	175087824	C	T	175087824	2	4	805	1	0	0	0	0	0	0	0	1	16328	581	21	2		2	TNN	1	175087824	Silent	SNP	C	TCGA-UZ-A9PR-01A-11D-A42J-10	839960	175087824	74162797	7	48018											
TNN	63923	hgsc.bcm.edu	37	1	175105980	175105980	+	Missense_Mutation	SNP	A	A	T			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr1:175105980A>T	ENST00000239462.4	+	17	3564	c.3451A>T	c.(3451-3453)Acc>Tcc	p.T1151S		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1151	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)		ACACAACCTCACCACCGGCAC	0.453																																																0													79	73	75					1																	175105980		2203	4300	6503	SO:0001583	missense	63923			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.3451A>T	chr1.hg19:g.175105980A>T	ENSP00000239462:p.Thr1151Ser		B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	hg19	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	A	17.97	3.517376	0.64634	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	D	0.85088	-1.94	5.13	5.13	0.70059	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.105272	0.64402	D	0.000004	D	0.89787	0.6816	L	0.60067	1.865	0.41191	D	0.986309	D	0.60575	0.988	D	0.63488	0.915	D	0.90621	0.4559	10	0.56958	D	0.05	.	14.9007	0.70678	1.0:0.0:0.0:0.0	.	1151	Q9UQP3	TENN_HUMAN	S	1151;974	ENSP00000239462:T1151S	ENSP00000239462:T1151S	T	+	1	0	TNN	173372603	1.000000	0.71417	1.000000	0.80357	0.202000	0.24057	8.631000	0.90991	2.057000	0.61298	0.533000	0.62120	ACC		0.453	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		T	175105980	A	T	175105980	3	4	805	1	0	0	0	0	1	0	0	0	16328	159	6	5	3513	5	TNN	1	175105980	Missense_Mutation	SNP	A	TCGA-UZ-A9PR-01A-11D-A42J-10	18156	175105980	74144641	8	48019											
PPP1R15B	84919	hgsc.bcm.edu	37	1	204380034	204380034	+	Missense_Mutation	SNP	G	G	T			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr1:204380034G>T	ENST00000367188.4	-	1	885	c.506C>A	c.(505-507)cCt>cAt	p.P169H	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	169					ER overload response (GO:0006983)|regulation of translation (GO:0006417)|response to hydrogen peroxide (GO:0042542)	protein phosphatase type 1 complex (GO:0000164)	protein serine/threonine phosphatase activity (GO:0004722)			breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			CTGTGCTGCAGGGTCCAAAGC	0.552																																																0													88	90	89					1																	204380034		2203	4300	6503	SO:0001583	missense	84919			AK027650	CCDS1445.1	1q32.1	2012-04-17	2011-10-04		ENSG00000158615	ENSG00000158615		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14951	protein-coding gene	gene with protein product		613257	"protein phosphatase 1, regulatory (inhibitor) subunit 15B"			11948623	Standard	XM_005245551		Approved	FLJ14744	uc001hav.4	Q5SWA1	OTTHUMG00000036105	ENST00000367188.4:c.506C>A	chr1.hg19:g.204380034G>T	ENSP00000356156:p.Pro169His		Q53GQ4|Q658M2|Q6P156|Q96SN1	Missense_Mutation	SNP	ENST00000367188.4	hg19	CCDS1445.1	.	.	.	.	.	.	.	.	.	.	G	11.77	1.737847	0.30774	.	.	ENSG00000158615	ENST00000367188;ENST00000543650	T	0.19250	2.16	4.81	2.9	0.33743	Protein phosphatase 1, regulatory subunit 15B, N-terminal (1);	0.675157	0.12952	N	0.425762	T	0.34658	0.0905	L	0.40543	1.245	0.22034	N	0.999405	D	0.71674	0.998	D	0.67382	0.951	T	0.12811	-1.0533	10	0.72032	D	0.01	-0.192	11.3319	0.49482	0.0:0.3548:0.6452:0.0	.	169	Q5SWA1	PR15B_HUMAN	H	169;79	ENSP00000356156:P169H	ENSP00000356156:P169H	P	-	2	0	PPP1R15B	202646657	0.974000	0.33945	0.047000	0.18901	0.010000	0.07245	2.242000	0.43106	0.593000	0.29745	-0.176000	0.13171	CCT		0.552	PPP1R15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087974.1	NM_032833		T	204380034	G	T	204380034	3	4	805	1	0	0	0	0	1	0	0	0	12369	1000	35	4	1643	4	PPP1R15B	1	204380034	Missense_Mutation	SNP	G	TCGA-UZ-A9PR-01A-11D-A42J-10	29274054	204380034	44870587	9	48020											
EMILIN1	11117	hgsc.bcm.edu	37	2	27305967	27305967	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr2:27305967C>T	ENST00000380320.4	+	4	2027	c.1528C>T	c.(1528-1530)Cag>Tag	p.Q510*		NM_007046.3	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	510					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGTGAGGGGCAGCTGCGGCT	0.692																																																0													18	21	20					2																	27305967		2202	4300	6502	SO:0001587	stop_gained	11117			AF088916	CCDS1733.1	2p23.3-p23.2	2008-02-05			ENSG00000138080	ENSG00000138080		"EMI domain containing"	19880	protein-coding gene	gene with protein product		130660					Standard	NM_007046		Approved	DKFZp586M121, gp115	uc002rii.4	Q9Y6C2	OTTHUMG00000097069	ENST00000380320.4:c.1528C>T	chr2.hg19:g.27305967C>T	ENSP00000369677:p.Gln510*		A5PL03|H0Y7A0|Q53SY9|Q96G58|Q96IH6|Q9UG76	Nonsense_Mutation	SNP	ENST00000380320.4	hg19	CCDS1733.1	.	.	.	.	.	.	.	.	.	.	C	41	8.853643	0.98978	.	.	ENSG00000138080	ENST00000380320	.	.	.	5.28	5.28	0.74379	.	0.451866	0.23141	N	0.051461	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	-11.7746	14.3929	0.66991	0.0:1.0:0.0:0.0	.	.	.	.	X	510	.	ENSP00000369677:Q510X	Q	+	1	0	EMILIN1	27159471	0.154000	0.22792	0.998000	0.56505	0.954000	0.61252	1.807000	0.38902	2.493000	0.84123	0.561000	0.74099	CAG		0.692	EMILIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214185.1	NM_007046		T	27305967	C	T	27305967	4	4	805	1	0	0	0	0	0	1	0	0	5095	711	25	2	1542	2	EMILIN1	2	27305967	Nonsense_Mutation	SNP	C	TCGA-UZ-A9PR-01A-11D-A42J-10		27305967	215893406	10	48021											
ERLEC1	27248	hgsc.bcm.edu	37	2	54040085	54040085	+	Splice_Site	SNP	G	G	C			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr2:54040085G>C	ENST00000185150.4	+	11	1232		c.e11-1		GPR75-ASB3_ENST00000352846.3_Intron|ERLEC1_ENST00000378239.5_Splice_Site|ASB3_ENST00000498475.2_Intron|ERLEC1_ENST00000405123.3_Splice_Site|ASB3_ENST00000406625.2_Intron	NM_015701.4	NP_056516.2	Q96DZ1	ERLEC_HUMAN	endoplasmic reticulum lectin 1						ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	glycoprotein binding (GO:0001948)			endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						TCCCATATTAGGACAAGGATA	0.393																																																0													88	83	85					2																	54040085		2203	4300	6503	SO:0001630	splice_region_variant	27248			AF131849	CCDS1848.1, CCDS46283.1, CCDS46284.1	2p16	2010-03-19	2009-08-26	2009-08-26	ENSG00000068912	ENSG00000068912			25222	protein-coding gene	gene with protein product	"erlectin 1"	611229	"chromosome 2 open reading frame 30"	C2orf30		9110174, 8619474, 16531414, 18264092	Standard	NM_015701		Approved	CL25084, XTP3TPB, XTP3-B, ERLECTIN	uc002rxl.3	Q96DZ1	OTTHUMG00000129281	ENST00000185150.4:c.1102-1G>C	chr2.hg19:g.54040085G>C			B2RDB4|B5MC72|O95901|Q6UWN7|Q9NUY7|Q9UQL4	Splice_Site	SNP	ENST00000185150.4	hg19	CCDS1848.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.524487	0.64747	.	.	ENSG00000068912	ENST00000405123;ENST00000185150;ENST00000378239	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3626	0.98863	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ERLEC1	53893589	1.000000	0.71417	1.000000	0.80357	0.569000	0.35902	8.932000	0.92897	2.885000	0.99019	0.655000	0.94253	.		0.393	ERLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251404.1	NM_015701	Intron	C	54040085	G	C	54040085	5	2	805	1	0	0	0	0	0	0	1	0	5233	1014	35	4	1143	4	ERLEC1	2	54040085	Splice_Site	SNP	G	TCGA-UZ-A9PR-01A-11D-A42J-10	26734118	54040085	189159288	11	48022											
AUP1	165545	hgsc.bcm.edu	37	2	74755400	74755400	+	5'Flank	SNP	C	C	T	rs377142567		TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr2:74755400C>T	ENST00000404568.3	-	0	0				DQX1_ENST00000393951.2_5'Flank|AUP1_ENST00000377526.3_Missense_Mutation_p.V216I|HTRA2_ENST00000352222.3_5'Flank|HTRA2_ENST00000258080.3_5'Flank	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1							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						GTGAAAGGGACGAAAAGTGAC	0.537																																																0								C	ILE/VAL	0,4080		0,0,2040	74	80	78		646	5.1	1	2		78	1,8385		0,1,4192	no	missense	AUP1	NM_181575.3	29	0,1,6232	TT,TC,CC		0.0119,0.0,0.0080	benign	216/411	74755400	1,12465	2040	4193	6233	SO:0001631	upstream_gene_variant	550			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		chr2.hg19:g.74755400C>T	Exception_encountered		Q6B017|Q8NAM8	Missense_Mutation	SNP	ENST00000404568.3	hg19	CCDS1949.2	.	.	.	.	.	.	.	.	.	.	C	14.05	2.420097	0.42918	0.0	1.19E-4	ENSG00000115307	ENST00000377526;ENST00000258081;ENST00000412627	D	0.92805	-3.11	5.1	5.1	0.69264	.	0.065407	0.64402	D	0.000010	D	0.83557	0.5280	N	0.25426	0.745	0.44485	D	0.997421	P;P;P	0.44429	0.835;0.835;0.75	B;B;B	0.35114	0.06;0.097;0.196	T	0.83241	-0.0058	10	0.41790	T	0.15	-14.846	9.4342	0.38628	0.0:0.9061:0.0:0.0939	.	273;282;216	E7EU18;Q9Y679;Q9Y679-2	.;AUP1_HUMAN;.	I	216;280;218	ENSP00000366748:V216I	ENSP00000258081:V280I	V	-	1	0	AUP1	74608908	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.606000	0.46291	2.655000	0.90218	0.462000	0.41574	GTC		0.537	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252230.3	NM_133637		T	74755400	C	T	74755400	1	4	805	0	1	0	0	0	0	0	0	0	1220	536	19	1		1	AUP1	2	74755400	5'Flank	SNP	C	TCGA-UZ-A9PR-01A-11D-A42J-10	20715315	74755400	168443973	12	48023											
POLR1A	25885	hgsc.bcm.edu	37	2	86327239	86327239	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr2:86327239G>A	ENST00000263857.6	-	2	512	c.134C>T	c.(133-135)cCa>cTa	p.P45L	POLR1A_ENST00000409681.1_Missense_Mutation_p.P45L			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	45					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GTTTGCCGATGGGTTCCCCAG	0.498																																																0													92	95	94					2																	86327239		1924	4149	6073	SO:0001583	missense	25885			AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"RNA polymerase subunits"	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.134C>T	chr2.hg19:g.86327239G>A	ENSP00000263857:p.Pro45Leu		B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	ENST00000263857.6	hg19	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	G	19.03	3.748536	0.69533	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	T;T	0.39997	1.05;1.05	5.93	5.93	0.95920	RNA polymerase Rpb1, domain 1 (1);	0.109298	0.64402	D	0.000007	T	0.73024	0.3534	M	0.90483	3.12	0.80722	D	1	D;D	0.69078	0.997;0.991	D;D	0.72075	0.976;0.92	T	0.77517	-0.2558	10	0.87932	D	0	-13.9436	20.3363	0.98740	0.0:0.0:1.0:0.0	.	45;45	B9ZVN9;O95602	.;RPA1_HUMAN	L	45	ENSP00000263857:P45L;ENSP00000386300:P45L	ENSP00000263857:P45L	P	-	2	0	POLR1A	86180750	1.000000	0.71417	0.984000	0.44739	0.759000	0.43091	7.215000	0.77966	2.814000	0.96858	0.563000	0.77884	CCA		0.498	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		A	86327239	G	A	86327239	3	1	805	1	0	0	0	0	1	0	0	0	12211	1348	47	2	5160	2	POLR1A	2	86327239	Missense_Mutation	SNP	G	TCGA-UZ-A9PR-01A-11D-A42J-10	11571839	86327239	156872134	13	48024											
ITPR1	3708	hgsc.bcm.edu	37	3	4824382	4824382	+	Missense_Mutation	SNP	C	C	T			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr3:4824382C>T	ENST00000443694.2	+	47	6422	c.6422C>T	c.(6421-6423)tCc>tTc	p.S2141F	ITPR1_ENST00000354582.6_Missense_Mutation_p.S2141F|ITPR1_ENST00000423119.2_Missense_Mutation_p.S2108F|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000302640.8_Missense_Mutation_p.S2141F|ITPR1_ENST00000357086.4_Missense_Mutation_p.S2108F|ITPR1_ENST00000456211.2_Missense_Mutation_p.S2093F			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2156					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)	GGGGCGGCGTCCCCCAGGAAC	0.527																																																0													101	111	107					3																	4824382		2077	4182	6259	SO:0001583	missense	3708			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"Ion channels / Inositol triphosphate receptors"	6180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 94"	147265	"spinocerebellar ataxia 15", "spinocerebellar ataxia 16", "spinocerebellar ataxia 29"	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.6422C>T	chr3.hg19:g.4824382C>T	ENSP00000401671:p.Ser2141Phe		E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	hg19	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808639	0.90707	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.92595	-3.06;-3.07;-3.07;-3.07;-3.05;-3.06	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.96809	0.8958	M	0.89534	3.04	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.72625	0.959;0.978	D	0.97432	1.0016	10	0.66056	D	0.02	.	18.6589	0.91465	0.0:1.0:0.0:0.0	.	2156;2108	Q14643;G5E9P1	ITPR1_HUMAN;.	F	2156;2141;2141;2108;602;2108;2093;2141	ENSP00000306253:S2141F;ENSP00000346595:S2141F;ENSP00000405934:S2108F;ENSP00000349597:S2108F;ENSP00000397885:S2093F;ENSP00000401671:S2141F	ENSP00000306253:S2141F	S	+	2	0	ITPR1	4799382	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	7.752000	0.85141	2.402000	0.81655	0.650000	0.86243	TCC		0.527	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		T	4824382	C	T	4824382	3	4	805	1	0	0	0	0	1	0	0	0	7922	855	30	2	6657	2	ITPR1	3	4824382	Missense_Mutation	SNP	C	TCGA-UZ-A9PR-01A-11D-A42J-10		4824382	193198048	14	48025											
SNRK	54861	hgsc.bcm.edu	37	3	43389082	43389082	+	Frame_Shift_Del	DEL	G	G	-			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr3:43389082delG	ENST00000296088.7	+	7	1635	c.1331delG	c.(1330-1332)aggfs	p.R444fs	SNRK-AS1_ENST00000422681.1_RNA|RP11-188P20.3_ENST00000607513.1_RNA|SNRK_ENST00000429705.2_Frame_Shift_Del_p.R444fs|SNRK_ENST00000437827.1_Frame_Shift_Del_p.R238fs|SNRK_ENST00000454177.1_Frame_Shift_Del_p.R444fs	NM_017719.4	NP_060189.3			SNF related kinase											breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		TGTCTGTTCAGGGTGGAAGAA	0.542																																																0													103	111	108					3																	43389082		2019	4191	6210	SO:0001589	frameshift_variant	54861			D43636	CCDS43075.1	3p22.1	2005-08-09			ENSG00000163788	ENSG00000163788			30598	protein-coding gene	gene with protein product		612760				8654423, 7788527	Standard	NM_017719		Approved	FLJ20224, HSNFRK, KIAA0096	uc003cmt.4	Q9NRH2	OTTHUMG00000156491	ENST00000296088.7:c.1331delG	chr3.hg19:g.43389082delG	ENSP00000296088:p.Arg444fs			Frame_Shift_Del	DEL	ENST00000296088.7	hg19	CCDS43075.1																																																																																				0.542	SNRK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344325.1	NM_017719		-	43389082	G	-	43389082	7	5	805	1	0	1	0	1	0	0	0	0	14857	1000	35	0	1349	0	SNRK	3	43389082	Frame_Shift_Del	DEL	G	TCGA-UZ-A9PR-01A-11D-A42J-10	38564700	43389082	154633348	15	48026											
QRICH1	54870	hgsc.bcm.edu	37	3	49114436	49114436	+	Silent	SNP	T	T	C			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr3:49114436T>C	ENST00000395443.2	-	2	487	c.15A>G	c.(13-15)ctA>ctG	p.L5L	QRICH1_ENST00000357496.2_Silent_p.L5L|QRICH1_ENST00000424300.1_Silent_p.L5L	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	5	CARD.					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)		TGGTGTTCTCTAGGGAATTAT	0.433																																																0													100	100	100					3																	49114436		2203	4300	6503	SO:0001819	synonymous_variant	54870				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.15A>G	chr3.hg19:g.49114436T>C			Q4G0F7|Q7L621|Q8TEA5	Silent	SNP	ENST00000395443.2	hg19	CCDS2787.1																																																																																				0.433	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730		C	49114436	T	C	49114436	2	2	805	1	0	0	0	0	0	0	0	1	12885	1509	53	3		3	QRICH1	3	49114436	Silent	SNP	T	TCGA-UZ-A9PR-01A-11D-A42J-10	5725354	49114436	148907994	16	48027											
PTPRG	5793	hgsc.bcm.edu	37	3	62278935	62278935	+	Missense_Mutation	SNP	A	A	T			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr3:62278935A>T	ENST00000474889.1	+	30	4668	c.4291A>T	c.(4291-4293)Att>Ttt	p.I1431F	PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000498655.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.I1402F|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000490916.1_RNA|PTPRG-AS1_ENST00000466893.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	1431					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)		TGCTGTTCTTATTGCAGATGA	0.413																																																0													135	128	130					3																	62278935		2203	4299	6502	SO:0001583	missense	5793			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.4291A>T	chr3.hg19:g.62278935A>T	ENSP00000418112:p.Ile1431Phe		B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	ENST00000474889.1	hg19	CCDS2895.1	.	.	.	.	.	.	.	.	.	.	A	11.94	1.787350	0.31593	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	T;T	0.52983	0.64;0.71	5.45	5.45	0.79879	.	0.330007	0.36972	N	0.002320	T	0.33206	0.0855	N	0.22421	0.69	0.09310	N	0.999999	B;B;B	0.27264	0.037;0.173;0.024	B;B;B	0.28709	0.006;0.093;0.038	T	0.29458	-1.0011	10	0.62326	D	0.03	.	8.2166	0.31516	0.8808:0.0:0.1192:0.0	.	677;1402;1431	B7Z3T1;P23470-2;P23470	.;.;PTPRG_HUMAN	F	1431;1402	ENSP00000418112:I1431F;ENSP00000295874:I1402F	ENSP00000295874:I1402F	I	+	1	0	PTPRG	62253975	0.044000	0.20184	0.193000	0.23327	0.955000	0.61496	1.731000	0.38135	2.086000	0.62901	0.528000	0.53228	ATT		0.413	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841		T	62278935	A	T	62278935	3	4	805	1	0	0	0	0	1	0	0	0	12808	449	16	5	4409	5	PTPRG	3	62278935	Missense_Mutation	SNP	A	TCGA-UZ-A9PR-01A-11D-A42J-10	13164499	62278935	135743495	17	48028											
CADPS	8618	hgsc.bcm.edu	37	3	62739258	62739258	+	Missense_Mutation	SNP	T	T	C			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr3:62739258T>C	ENST00000383710.4	-	3	1095	c.746A>G	c.(745-747)gAg>gGg	p.E249G	CADPS_ENST00000357948.3_Missense_Mutation_p.E249G|CADPS_ENST00000283269.9_Missense_Mutation_p.E249G|CADPS_ENST00000490353.2_Missense_Mutation_p.E249G	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	249					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)		CCGCGGGTCCTCTTCTCCACG	0.572																																																0													62	63	63					3																	62739258		2203	4300	6503	SO:0001583	missense	8618			U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"Pleckstrin homology (PH) domain containing"	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.746A>G	chr3.hg19:g.62739258T>C	ENSP00000373215:p.Glu249Gly		A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	hg19	CCDS46858.1	.	.	.	.	.	.	.	.	.	.	T	27.6	4.849507	0.91277	.	.	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269;ENST00000490353	D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	D	0.93710	0.7990	M	0.77103	2.36	0.80722	D	1	D;P;P	0.59767	0.986;0.873;0.799	P;P;B	0.61201	0.885;0.461;0.214	D	0.94364	0.7590	10	0.87932	D	0	.	16.2824	0.82697	0.0:0.0:0.0:1.0	.	249;249;249	Q9ULU8-2;Q9ULU8-3;Q9ULU8	.;.;CAPS1_HUMAN	G	249	ENSP00000373215:E249G;ENSP00000350632:E249G;ENSP00000283269:E249G;ENSP00000418736:E249G	ENSP00000283269:E249G	E	-	2	0	CADPS	62714298	1.000000	0.71417	0.998000	0.56505	0.882000	0.50991	8.040000	0.89188	2.250000	0.74265	0.533000	0.62120	GAG		0.572	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		C	62739258	T	C	62739258	3	2	805	1	0	0	0	0	1	0	0	0	2572	1551	54	3	3500	3	CADPS	3	62739258	Missense_Mutation	SNP	T	TCGA-UZ-A9PR-01A-11D-A42J-10	460323	62739258	135283172	18	48029											
CP	1356	hgsc.bcm.edu	37	3	148930300	148930300	+	Frame_Shift_Del	DEL	T	T	-			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr3:148930300delT	ENST00000264613.6	-	2	594	c.332delA	c.(331-333)aacfs	p.N111fs		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	111	F5/8 type A 1.|Plastocyanin-like 1.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	AGAGGCAAGGTTTTTTAAGTG	0.388																																																0													118	120	119					3																	148930300		2203	4300	6503	SO:0001589	frameshift_variant	1356			M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.332delA	chr3.hg19:g.148930300delT	ENSP00000264613:p.Asn111fs		Q14063|Q2PP18|Q9UKS4	Frame_Shift_Del	DEL	ENST00000264613.6	hg19	CCDS3141.1																																																																																				0.388	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096		-	148930300	T	-	148930300	7	5	805	1	0	1	0	1	0	0	0	0	3789	1725	60	0	2937	0	CP	3	148930300	Frame_Shift_Del	DEL	T	TCGA-UZ-A9PR-01A-11D-A42J-10	86191042	148930300	49092130	19	48030											
ATP13A4	84239	hgsc.bcm.edu	37	3	193175211	193175211	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr3:193175211G>A	ENST00000342695.4	-	15	2040	c.1718C>T	c.(1717-1719)cCg>cTg	p.P573L	ATP13A4_ENST00000392443.3_Missense_Mutation_p.P554L	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	573						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)		GGCATGTGCCGGCACTCCCTT	0.458																																																0													173	171	172					3																	193175211		2203	4300	6503	SO:0001583	missense	84239			AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"ATPases / P-type"	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.1718C>T	chr3.hg19:g.193175211G>A	ENSP00000339182:p.Pro573Leu		B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	ENST00000342695.4	hg19	CCDS3304.2	.	.	.	.	.	.	.	.	.	.	G	11.28	1.591176	0.28357	.	.	ENSG00000127249	ENST00000392443;ENST00000342695	D;D	0.86627	-1.88;-2.15	5.03	4.15	0.48705	ATPase, cation-transporting, domain N (1);ATPase, P-type, cytoplasmic domain N (1);	0.295841	0.29587	N	0.011729	T	0.66655	0.2811	N	0.01800	-0.715	0.80722	D	1	B;B;B	0.19073	0.008;0.003;0.033	B;B;B	0.15484	0.009;0.005;0.013	T	0.59878	-0.7371	10	0.21540	T	0.41	-22.0958	8.9035	0.35510	0.1058:0.0:0.8942:0.0	.	554;573;573	B7WPN9;Q4VNC1-2;Q4VNC1	.;.;AT134_HUMAN	L	554;573	ENSP00000376238:P554L;ENSP00000339182:P573L	ENSP00000339182:P573L	P	-	2	0	ATP13A4	194657905	0.774000	0.28592	0.794000	0.32065	0.608000	0.37181	2.473000	0.45145	1.223000	0.43536	0.655000	0.94253	CCG		0.458	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		A	193175211	G	A	193175211	3	1	805	1	0	0	0	0	1	0	0	0	1126	1116	39	1	1936	1	ATP13A4	3	193175211	Missense_Mutation	SNP	G	TCGA-UZ-A9PR-01A-11D-A42J-10	44244911	193175211	4847219	20	48031											
CCDC149	91050	hgsc.bcm.edu	37	4	24878300	24878300	+	Frame_Shift_Del	DEL	T	T	-			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr4:24878300delT	ENST00000389609.4	-	3	226	c.83delA	c.(82-84)aagfs	p.K28fs	CCDC149_ENST00000428116.2_5'UTR|CCDC149_ENST00000504487.1_Frame_Shift_Del_p.K28fs|CCDC149_ENST00000502801.1_Frame_Shift_Del_p.K28fs	NM_173463.4	NP_775734.2	Q6ZUS6	CC149_HUMAN	coiled-coil domain containing 149	108										cervix(1)|endometrium(1)|large_intestine(2)|lung(3)	7		Breast(46;0.173)				ACTCTCCAGCTTCCTCTTACA	0.507																																																0													107	88	94					4																	24878300		692	1591	2283	SO:0001589	frameshift_variant	91050				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.83delA	chr4.hg19:g.24878300delT	ENSP00000374260:p.Lys28fs		A6NJE7|B4DK90|B4DZG3|G5EA04|Q6NW41|Q8N3K8	Frame_Shift_Del	DEL	ENST00000389609.4	hg19	CCDS33967.2																																																																																				0.507	CCDC149-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360157.1	NM_173463		-	24878300	T	-	24878300	7	5	805	1	0	1	0	1	0	0	0	0	2785	1609	56	0	1554	0	CCDC149	4	24878300	Frame_Shift_Del	DEL	T	TCGA-UZ-A9PR-01A-11D-A42J-10		24878300	166275976	21	48032											
N4BP2	55728	hgsc.bcm.edu	37	4	40122134	40122134	+	Frame_Shift_Del	DEL	A	A	-			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr4:40122134delA	ENST00000261435.6	+	9	2819	c.2403delA	c.(2401-2403)acafs	p.T801fs		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	801					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						GTCAGAGGACAAAAAGGAACA	0.358																																																0													55	55	55					4																	40122134		2203	4300	6503	SO:0001589	frameshift_variant	55728			AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"BCL-3 binding protein"					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.2403delA	chr4.hg19:g.40122134delA	ENSP00000261435:p.Thr801fs		A0AVR3|Q9NVK2|Q9P2D4	Frame_Shift_Del	DEL	ENST00000261435.6	hg19	CCDS3457.1																																																																																				0.358	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		-	40122134	A	-	40122134	7	5	805	1	0	1	0	1	0	0	0	0	10112	117	5	0	2429	0	N4BP2	4	40122134	Frame_Shift_Del	DEL	A	TCGA-UZ-A9PR-01A-11D-A42J-10	15243834	40122134	151032142	22	48033											
LIMCH1	22998	hgsc.bcm.edu	37	4	41621302	41621303	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	GA	GA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr4:41621302_41621303delGA	ENST00000313860.7	+	8	834_835	c.780_781delGA	c.(778-783)ccgaaafs	p.K261fs	LIMCH1_ENST00000509277.1_Frame_Shift_Del_p.K107fs|LIMCH1_ENST00000513024.1_Frame_Shift_Del_p.K102fs|LIMCH1_ENST00000396595.3_Frame_Shift_Del_p.K107fs|LIMCH1_ENST00000512820.1_Frame_Shift_Del_p.K261fs|LIMCH1_ENST00000511496.1_Frame_Shift_Del_p.K102fs|LIMCH1_ENST00000503057.1_Frame_Shift_Del_p.K102fs|LIMCH1_ENST00000514096.1_Frame_Shift_Del_p.K114fs|LIMCH1_ENST00000381753.4_Frame_Shift_Del_p.K107fs|LIMCH1_ENST00000512632.1_Frame_Shift_Del_p.K261fs|LIMCH1_ENST00000509454.1_Frame_Shift_Del_p.K109fs|LIMCH1_ENST00000508501.1_Frame_Shift_Del_p.K261fs|LIMCH1_ENST00000512946.1_Frame_Shift_Del_p.K261fs|LIMCH1_ENST00000509638.1_Frame_Shift_Del_p.K102fs	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	261					actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						ATGGTGAGCCGAAATCAGCAGT	0.53																																																0																																										SO:0001589	frameshift_variant	22998			AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.780_781delGA	chr4.hg19:g.41621302_41621303delGA	ENSP00000316891:p.Lys261fs		A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Frame_Shift_Del	DEL	ENST00000313860.7	hg19	CCDS33977.1																																																																																				0.53	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361249.2	NM_014988		-	41621303	GA	-	41621302	7	5	805	1	0	1	0	1	0	0	0	0	8799	1045	37	0	838	0	LIMCH1	4	41621302	Frame_Shift_Del	DEL	GA	TCGA-UZ-A9PR-01A-11D-A42J-10	1499168	41621302	149532974	23	48034											
LPHN3	23284	hgsc.bcm.edu	37	4	62598714	62598715	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	GT	GT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr4:62598714_62598715delGT	ENST00000514591.1	+	7	966_967	c.637_638delGT	c.(637-639)gtgfs	p.V213fs	LPHN3_ENST00000512091.2_Frame_Shift_Del_p.V213fs|LPHN3_ENST00000509896.1_Frame_Shift_Del_p.V281fs|LPHN3_ENST00000506720.1_Frame_Shift_Del_p.V281fs|LPHN3_ENST00000504896.1_Frame_Shift_Del_p.V213fs|LPHN3_ENST00000514996.1_Frame_Shift_Del_p.V213fs|LPHN3_ENST00000545650.1_Frame_Shift_Del_p.V213fs|LPHN3_ENST00000506746.1_Frame_Shift_Del_p.V281fs|LPHN3_ENST00000508946.1_Frame_Shift_Del_p.V213fs|LPHN3_ENST00000514157.1_Frame_Shift_Del_p.V213fs|LPHN3_ENST00000507164.1_Frame_Shift_Del_p.V281fs|LPHN3_ENST00000507625.1_Frame_Shift_Del_p.V281fs|LPHN3_ENST00000511324.1_Frame_Shift_Del_p.V281fs|LPHN3_ENST00000508693.1_Frame_Shift_Del_p.V281fs|LPHN3_ENST00000506700.1_Frame_Shift_Del_p.V213fs			Q9HAR2	LPHN3_HUMAN	latrophilin 3	213	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						AGGATTTGTAGTGTATGATGGA	0.441																																																0																																										SO:0001589	frameshift_variant	23284			AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"-", "GPCR / Class B : Orphans"	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.637_638delGT	chr4.hg19:g.62598716_62598717delGT	ENSP00000422533:p.Val213fs		E9PE04|O94867|Q9NWK5	Frame_Shift_Del	DEL	ENST00000514591.1	hg19	CCDS54768.1																																																																																				0.441	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			-	62598715	GT	-	62598714	7	5	805	1	0	1	0	1	0	0	0	0	8919	1029	36	0	655	0	LPHN3	4	62598714	Frame_Shift_Del	DEL	GT	TCGA-UZ-A9PR-01A-11D-A42J-10	20977412	62598714	128555562	24	48035											
SLC4A4	8671	hgsc.bcm.edu	37	4	72423545	72423545	+	Silent	SNP	T	T	C			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr4:72423545T>C	ENST00000264485.5	+	22	2997	c.2880T>C	c.(2878-2880)tgT>tgC	p.C960C	SLC4A4_ENST00000351898.6_Silent_p.C876C|SLC4A4_ENST00000340595.3_Silent_p.C916C|SLC4A4_ENST00000425175.1_Silent_p.C960C	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	960					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	AGGTGTTGTGTCTGGCCCTGC	0.483																																																0													152	119	130					4																	72423545		2203	4300	6503	SO:0001819	synonymous_variant	8671			AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"Solute carriers"	11030	protein-coding gene	gene with protein product		603345	"solute carrier family 4, sodium bicarbonate cotransporter, member 4"	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.2880T>C	chr4.hg19:g.72423545T>C			C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Silent	SNP	ENST00000264485.5	hg19	CCDS43236.1																																																																																				0.483	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		C	72423545	T	C	72423545	2	2	805	1	0	0	0	0	0	0	0	1	14662	1673	58	3		3	SLC4A4	4	72423545	Silent	SNP	T	TCGA-UZ-A9PR-01A-11D-A42J-10	9824831	72423545	118730731	25	48036											
LPCAT1	79888	hgsc.bcm.edu	37	5	1501608	1501608	+	Missense_Mutation	SNP	C	C	A			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr5:1501608C>A	ENST00000283415.3	-	2	378	c.246G>T	c.(244-246)aaG>aaT	p.K82N		NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	82					cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|negative regulation of phosphatidylcholine biosynthetic process (GO:2001246)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|positive regulation of protein catabolic process (GO:0045732)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|surfactant homeostasis (GO:0043129)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkenylglycerophosphocholine O-acyltransferase activity (GO:0047159)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|1-alkylglycerophosphocholine O-acyltransferase activity (GO:0047191)|calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		GCTCGGGTTCCTTCTCCGCAG	0.667																																																0													34	37	36					5																	1501608		2199	4299	6498	SO:0001583	missense	79888			BC020166	CCDS3864.1	5p15.33	2013-01-10	2007-12-17	2007-12-17	ENSG00000153395	ENSG00000153395		"EF-hand domain containing"	25718	protein-coding gene	gene with protein product		610472	"acyltransferase like 2"	AYTL2		8619474, 16704971	Standard	NM_024830		Approved	FLJ12443	uc003jcm.3	Q8NF37	OTTHUMG00000131017	ENST00000283415.3:c.246G>T	chr5.hg19:g.1501608C>A	ENSP00000283415:p.Lys82Asn		Q1HAQ1|Q7Z4G6|Q8N3U7|Q8WUL8|Q9GZW6	Missense_Mutation	SNP	ENST00000283415.3	hg19	CCDS3864.1	.	.	.	.	.	.	.	.	.	.	C	6.293	0.422250	0.11928	.	.	ENSG00000153395	ENST00000283415	T	0.71698	-0.59	4.35	2.07	0.26955	.	0.437567	0.24851	N	0.035086	T	0.60157	0.2247	L	0.54323	1.7	0.30348	N	0.785034	B	0.10296	0.003	B	0.21708	0.036	T	0.53229	-0.8468	10	0.27785	T	0.31	-13.6788	6.1162	0.20127	0.0:0.5524:0.0:0.4476	.	82	Q8NF37	PCAT1_HUMAN	N	82	ENSP00000283415:K82N	ENSP00000283415:K82N	K	-	3	2	LPCAT1	1554608	0.329000	0.24696	0.207000	0.23584	0.024000	0.10985	0.425000	0.21346	0.793000	0.33875	0.491000	0.48974	AAG		0.667	LPCAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304032.1	NM_024830		A	1501608	C	A	1501608	3	1	805	1	0	0	0	0	1	0	0	0	8912	680	24	4	1410	4	LPCAT1	5	1501608	Missense_Mutation	SNP	C	TCGA-UZ-A9PR-01A-11D-A42J-10		1501608	179413652	26	48037											
NR2F1	7025	hgsc.bcm.edu	37	5	92923881	92923881	+	Missense_Mutation	SNP	C	C	T			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr5:92923881C>T	ENST00000327111.3	+	2	2409	c.722C>T	c.(721-723)cCg>cTg	p.P241L	NR2F1-AS1_ENST00000513055.1_RNA	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	241					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)		CCCTTCTTCCCGGATCTGCAG	0.637																																																0													84	80	81					5																	92923881		2203	4300	6503	SO:0001583	missense	7025			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.722C>T	chr5.hg19:g.92923881C>T	ENSP00000325819:p.Pro241Leu			Missense_Mutation	SNP	ENST00000327111.3	hg19	CCDS4068.1	.	.	.	.	.	.	.	.	.	.	C	33	5.201256	0.94997	.	.	ENSG00000175745	ENST00000327111	D	0.96334	-3.98	4.54	4.54	0.55810	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.96558	0.8877	L	0.28649	0.875	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97507	1.0064	10	0.66056	D	0.02	.	17.0631	0.86552	0.0:1.0:0.0:0.0	.	241	P10589	COT1_HUMAN	L	241	ENSP00000325819:P241L	ENSP00000325819:P241L	P	+	2	0	NR2F1	92949637	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.606000	0.82863	2.327000	0.79052	0.462000	0.41574	CCG		0.637	NR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239293.2	NM_005654		T	92923881	C	T	92923881	3	4	805	1	0	0	0	0	1	0	0	0	10629	652	23	1	728	1	NR2F1	5	92923881	Missense_Mutation	SNP	C	TCGA-UZ-A9PR-01A-11D-A42J-10	91422273	92923881	87991379	27	48038											
PCDHB16	57717	hgsc.bcm.edu	37	5	140563836	140563836	+	Missense_Mutation	SNP	G	G	A	rs535302272	byFrequency	TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr5:140563836G>A	ENST00000361016.2	+	1	2857	c.1702G>A	c.(1702-1704)Ggc>Agc	p.G568S		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	568	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)			GCTGCAGAACGGCTCCGCGCC	0.711													G|||	2	0.000399361	0.0008	0.0	5008	,	,		13663	0.0		0.0	False		,,,				2504	0.001															0													14	17	16					5																	140563836		1969	3923	5892	SO:0001583	missense	57717			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.1702G>A	chr5.hg19:g.140563836G>A	ENSP00000354293:p.Gly568Ser		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	hg19	CCDS4251.1	.	.	.	.	.	.	.	.	.	.	g	12.66	2.005258	0.35415	.	.	ENSG00000196963	ENST00000361016	T	0.60797	0.16	4.12	2.28	0.28536	Cadherin (1);Cadherin-like (1);	1.832600	0.03875	N	0.276324	T	0.41719	0.1171	N	0.20807	0.61	0.09310	N	1	B	0.22003	0.063	B	0.17979	0.02	T	0.27123	-1.0083	10	0.45353	T	0.12	.	3.1416	0.06457	0.2646:0.0:0.4112:0.3242	.	568	Q9NRJ7	PCDBG_HUMAN	S	568	ENSP00000354293:G568S	ENSP00000354293:G568S	G	+	1	0	PCDHB16	140544020	0.000000	0.05858	0.984000	0.44739	0.978000	0.69477	0.941000	0.29005	0.212000	0.20703	0.479000	0.44913	GGC		0.711	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		A	140563836	G	A	140563836	3	1	805	1	0	0	0	0	1	0	0	0	11543	1116	39	1	1704	1	PCDHB16	5	140563836	Missense_Mutation	SNP	G	TCGA-UZ-A9PR-01A-11D-A42J-10	47639955	140563836	40351424	28	48039											
SH3TC2	79628	hgsc.bcm.edu	37	5	148421039	148421039	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr5:148421039G>A	ENST00000515425.1	-	6	772	c.671C>T	c.(670-672)aCa>aTa	p.T224I	SH3TC2_ENST00000538184.1_5'UTR|SH3TC2_ENST00000512049.1_Missense_Mutation_p.T217I|SH3TC2_ENST00000394358.2_Missense_Mutation_p.T109I	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	224					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)			CCGCTGACCTGTCACCAAAGA	0.562																																																0													86	70	76					5																	148421039		2203	4300	6503	SO:0001583	missense	79628			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.671C>T	chr5.hg19:g.148421039G>A	ENSP00000423660:p.Thr224Ile		B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Missense_Mutation	SNP	ENST00000515425.1	hg19	CCDS4293.1	.	.	.	.	.	.	.	.	.	.	G	19.50	3.839329	0.71488	.	.	ENSG00000169247	ENST00000515425;ENST00000512049;ENST00000394358	T;T;T	0.32988	1.43;1.43;1.43	5.59	3.74	0.42951	.	0.545786	0.17852	N	0.159814	T	0.40956	0.1138	L	0.29908	0.895	0.38988	D	0.959097	D;D;D	0.63880	0.993;0.992;0.992	P;P;P	0.60949	0.881;0.851;0.851	T	0.39761	-0.9598	10	0.72032	D	0.01	-1.1698	15.1929	0.73060	0.0:0.4049:0.5951:0.0	.	109;217;224	C9JLC3;Q14CC0;Q8TF17	.;.;S3TC2_HUMAN	I	224;217;109	ENSP00000423660:T224I;ENSP00000421860:T217I;ENSP00000377886:T109I	ENSP00000313025:T224I	T	-	2	0	SH3TC2	148401232	1.000000	0.71417	0.627000	0.29227	0.978000	0.69477	3.194000	0.51005	0.662000	0.31006	0.650000	0.86243	ACA		0.562	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577		A	148421039	G	A	148421039	3	1	805	1	0	0	0	0	1	0	0	0	14268	1377	48	2	3243	2	SH3TC2	5	148421039	Missense_Mutation	SNP	G	TCGA-UZ-A9PR-01A-11D-A42J-10	7857203	148421039	32494221	29	48040											
TIGD6	81789	hgsc.bcm.edu	37	5	149375763	149375765	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	TCC	TCC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr5:149375763_149375765delTCC	ENST00000296736.3	-	2	921_923	c.147_149delGGA	c.(145-150)aaggat>aat	p.49_50KD>N	TIGD6_ENST00000515406.2_In_Frame_Del_p.49_50KD>N	NM_030953.3	NP_112215.1	Q17RP2	TIGD6_HUMAN	tigger transposable element derived 6	49	HTH psq-type. {ECO:0000255|PROSITE- ProRule:PRU00320}.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|stomach(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TTTGGTGCGATCCTTTAAGAATG	0.443																																																0																																										SO:0001651	inframe_deletion	81789			AK056604	CCDS4301.1	5q33.1	2008-02-05			ENSG00000164296	ENSG00000164296			18332	protein-coding gene	gene with protein product						11230166	Standard	NM_030953		Approved	DKFZp761E2110	uc003lrj.3	Q17RP2	OTTHUMG00000130045	ENST00000296736.3:c.147_149delGGA	chr5.hg19:g.149375763_149375765delTCC	ENSP00000296736:p.Lys49_Asp50delinsAsn		B3KTZ8|Q96MQ4|Q9H0X7	In_Frame_Del	DEL	ENST00000296736.3	hg19	CCDS4301.1																																																																																				0.443	TIGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252324.1	NM_030953		-	149375765	TCC	-	149375763	7	5	805	1	0	1	0	1	0	0	0	0	15905	1435	50	0	1420	0	TIGD6	5	149375763	In_Frame_Del	DEL	TCC	TCGA-UZ-A9PR-01A-11D-A42J-10	954724	149375763	31539497	30	48041											
SCAND3	114821	hgsc.bcm.edu	37	6	28539881	28539881	+	Missense_Mutation	SNP	T	T	C			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr6:28539881T>C	ENST00000452236.2	-	4	4402	c.3785A>G	c.(3784-3786)gAg>gGg	p.E1262G		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						taaagcaatctcagcaagctc	0.358																																																0													69	72	71					6																	28539881		2203	4300	6503	SO:0001583	missense	114821																														ENST00000452236.2:c.3785A>G	chr6.hg19:g.28539881T>C	ENSP00000395259:p.Glu1262Gly			Missense_Mutation	SNP	ENST00000452236.2	hg19	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	T	15.46	2.839296	0.51057	.	.	ENSG00000232040	ENST00000452236	T	0.23348	1.91	2.53	2.53	0.30540	HAT dimerisation (1);Ribonuclease H-like (1);	1.392160	0.05202	U	0.505216	T	0.28134	0.0694	L	0.53249	1.67	0.26555	N	0.973832	D	0.69078	0.997	D	0.79108	0.992	T	0.09250	-1.0683	10	0.35671	T	0.21	.	6.9733	0.24660	0.0:0.0:0.0:1.0	.	1262	Q6R2W3	SCND3_HUMAN	G	1262	ENSP00000395259:E1262G	ENSP00000395259:E1262G	E	-	2	0	SCAND3	28647860	0.994000	0.37717	0.999000	0.59377	0.952000	0.60782	1.895000	0.39778	1.405000	0.46838	0.533000	0.62120	GAG		0.358	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			C	28539881	T	C	28539881	3	2	805	1	0	0	0	0	1	0	0	0	13882	1551	54	3	196	3	SCAND3	6	28539881	Missense_Mutation	SNP	T	TCGA-UZ-A9PR-01A-11D-A42J-10		28539881	142575186	31	48042											
C6orf222	389384	hgsc.bcm.edu	37	6	36298147	36298148	+	Frame_Shift_Ins	INS	-	-	A			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr6:36298147_36298148insA	ENST00000437635.2	-	2	497_498	c.320_321insT	c.(319-321)ttcfs	p.F107fs		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	107										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						CCGTCCTCACGAAGAAGTTCAG	0.634																																																0																																										SO:0001589	frameshift_variant	389384				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.321dupT	chr6.hg19:g.36298149_36298149dupA	ENSP00000418983:p.Phe107fs		B2RTY8	Frame_Shift_Ins	INS	ENST00000437635.2	hg19	CCDS34439.1																																																																																				0.634	C6orf222-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040338.2	NM_001010903		A	36298148	-	A	36298147	7	5	805	1	0	1	1	0	0	0	0	0	2358	1049	37	0	1681	0	C6orf222	6	36298147	Frame_Shift_Ins	INS	-	TCGA-UZ-A9PR-01A-11D-A42J-10	7758266	36298147	134816920	32	48043	515	2									
C6orf222	389384	hgsc.bcm.edu	37	6	36298150	36298150	+	Silent	SNP	G	G	A			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr6:36298150G>A	ENST00000437635.2	-	2	495	c.318C>T	c.(316-318)ttC>ttT	p.F106F		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	106										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						TCCTCACGAAGAAGTTCAGCA	0.627																																																0													73	70	71					6																	36298150		2203	4300	6503	SO:0001819	synonymous_variant	389384				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.318C>T	chr6.hg19:g.36298150G>A			B2RTY8	Silent	SNP	ENST00000437635.2	hg19	CCDS34439.1																																																																																				0.627	C6orf222-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040338.2	NM_001010903		A	36298150	G	A	36298150	2	1	805	1	0	0	0	0	0	0	0	1	2358	933	33	2		2	C6orf222	6	36298150	Silent	SNP	G	TCGA-UZ-A9PR-01A-11D-A42J-10	3	36298150	134816917	33	48044	515	2									
IBTK	25998	hgsc.bcm.edu	37	6	82950058	82950058	+	Missense_Mutation	SNP	T	T	C			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr6:82950058T>C	ENST00000306270.7	-	2	695	c.146A>G	c.(145-147)gAt>gGt	p.D49G	IBTK_ENST00000503631.1_Missense_Mutation_p.D49G|IBTK_ENST00000510291.1_Missense_Mutation_p.D49G	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	49					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein tyrosine kinase activity (GO:0061099)|release of sequestered calcium ion into cytosol (GO:0051209)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine kinase inhibitor activity (GO:0030292)			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		GCCAAAAACATCCTTGATAGT	0.443																																																0													148	139	142					6																	82950058		2203	4300	6503	SO:0001583	missense	25998			AF235049	CCDS34490.1, CCDS75486.1	6q14.3	2013-01-10	2003-10-06	2003-10-08	ENSG00000005700	ENSG00000005700		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	17853	protein-coding gene	gene with protein product		606457	"Bruton agammaglobulinemia tyrosine kinase inhibitor"	BTKI		11577348	Standard	XM_006715453		Approved	DKFZP564B116, BTBD26	uc003pjl.1	Q9P2D0	OTTHUMG00000015102	ENST00000306270.7:c.146A>G	chr6.hg19:g.82950058T>C	ENSP00000305721:p.Asp49Gly		Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Missense_Mutation	SNP	ENST00000306270.7	hg19	CCDS34490.1	.	.	.	.	.	.	.	.	.	.	T	19.33	3.806574	0.70682	.	.	ENSG00000005700	ENST00000306270;ENST00000503631;ENST00000510291	T;T;T	0.59638	0.25;0.25;0.25	5.78	5.78	0.91487	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.73009	0.3532	M	0.80183	2.485	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	0.77752	-0.2470	10	0.72032	D	0.01	-23.4179	16.0962	0.81127	0.0:0.0:0.0:1.0	.	49;49;49;49	E9PDR5;E7EPI0;Q9P2D0-2;Q9P2D0	.;.;.;IBTK_HUMAN	G	49	ENSP00000305721:D49G;ENSP00000422762:D49G;ENSP00000426405:D49G	ENSP00000305721:D49G	D	-	2	0	IBTK	83006777	1.000000	0.71417	1.000000	0.80357	0.501000	0.33797	7.671000	0.83941	2.207000	0.71202	0.459000	0.35465	GAT		0.443	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041337.2	NM_015525		C	82950058	T	C	82950058	3	2	805	1	0	0	0	0	1	0	0	0	7478	1435	50	3	4027	3	IBTK	6	82950058	Missense_Mutation	SNP	T	TCGA-UZ-A9PR-01A-11D-A42J-10	46651908	82950058	88165009	34	48045											
SMPDL3A	10924	hgsc.bcm.edu	37	6	123124850	123124850	+	Silent	SNP	A	A	C			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr6:123124850A>C	ENST00000368440.4	+	5	787	c.610A>C	c.(610-612)Agg>Cgg	p.R204R	SMPDL3A_ENST00000539041.1_Silent_p.R73R	NM_006714.3	NP_006705.1	Q92484	ASM3A_HUMAN	sphingomyelin phosphodiesterase, acid-like 3A	204					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)			breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(226;0.236)		TCCAAACCTTAGGATCATCAG	0.343																																																0													127	122	124					6																	123124850		2203	4300	6503	SO:0001819	synonymous_variant	10924			AK000184	CCDS5128.1, CCDS69190.1	6q22.32	2006-04-12			ENSG00000172594	ENSG00000172594			17389	protein-coding gene	gene with protein product	"acid sphingomyelinase-like phosphodiesterase 3a"	610728				12442002	Standard	XM_005266798		Approved	FLJ20177, ASM3A, ASML3a, yR36GH4.1	uc003pzg.3	Q92484	OTTHUMG00000015490	ENST00000368440.4:c.610A>C	chr6.hg19:g.123124850A>C			B7Z729|Q8WV13	Silent	SNP	ENST00000368440.4	hg19	CCDS5128.1																																																																																				0.343	SMPDL3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042039.1	NM_006714		C	123124850	A	C	123124850	2	2	805	1	0	0	0	0	0	0	0	1	14814	411	15	5		5	SMPDL3A	6	123124850	Silent	SNP	A	TCGA-UZ-A9PR-01A-11D-A42J-10	40174792	123124850	47990217	35	48046											
SYNE1	23345	hgsc.bcm.edu	37	6	152510469	152510469	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr6:152510469G>A	ENST00000367255.5	-	128	23820	c.23219C>T	c.(23218-23220)gCc>gTc	p.A7740V	SYNE1_ENST00000448038.1_Missense_Mutation_p.A7669V|SYNE1_ENST00000423061.1_Missense_Mutation_p.A7669V|SYNE1_ENST00000356820.4_Missense_Mutation_p.A2264V|SYNE1_ENST00000341594.5_Missense_Mutation_p.A7352V|SYNE1_ENST00000265368.4_Missense_Mutation_p.A7740V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7740					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)		ACTGATATAGGCAGAGAGGGT	0.423										HNSCC(10;0.0054)																																						0													154	150	152					6																	152510469		2203	4300	6503	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.23219C>T	chr6.hg19:g.152510469G>A	ENSP00000356224:p.Ala7740Val		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	hg19	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	9.442	1.088347	0.20390	.	.	ENSG00000131018	ENST00000367255;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000367251	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	5.99	5.11	0.69529	.	0.270973	0.28042	N	0.016838	T	0.06234	0.0161	N	0.04043	-0.29	0.09310	N	1	B;B;B;B	0.09022	0.001;0.001;0.002;0.001	B;B;B;B	0.11329	0.003;0.003;0.006;0.003	T	0.21348	-1.0248	10	0.30078	T	0.28	.	8.3176	0.32111	0.1333:0.0:0.7401:0.1266	.	7740;7740;7669;7669	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9	SYNE1_HUMAN;.;.;.	V	7740;386;7669;7740;7669;7352;2264;662	ENSP00000356224:A7740V;ENSP00000356226:A386V;ENSP00000396024:A7669V;ENSP00000265368:A7740V;ENSP00000390975:A7669V;ENSP00000341887:A7352V;ENSP00000349276:A2264V;ENSP00000356220:A662V	ENSP00000265368:A7740V	A	-	2	0	SYNE1	152552162	0.254000	0.23992	0.845000	0.33349	0.831000	0.47069	1.811000	0.38942	1.509000	0.48786	0.655000	0.94253	GCC		0.423	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		A	152510469	G	A	152510469	3	1	805	1	0	0	0	0	1	0	0	0	15450	1203	42	2	3323	2	SYNE1	6	152510469	Missense_Mutation	SNP	G	TCGA-UZ-A9PR-01A-11D-A42J-10	29385619	152510469	18604598	36	48047											
UPP1	7378	hgsc.bcm.edu	37	7	48139322	48139322	+	Missense_Mutation	SNP	C	C	A			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr7:48139322C>A	ENST00000331803.4	+	5	723	c.100C>A	c.(100-102)Ctc>Atc	p.L34I	UPP1_ENST00000482015.1_Intron|UPP1_ENST00000429491.2_Intron|UPP1_ENST00000395564.4_Missense_Mutation_p.L34I|UPP1_ENST00000341253.4_Missense_Mutation_p.L34I			Q16831	UPP1_HUMAN	uridine phosphorylase 1	34					cellular response to glucose starvation (GO:0042149)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide catabolic process (GO:0009166)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)|uridine metabolic process (GO:0046108)	cytosol (GO:0005829)	uridine phosphorylase activity (GO:0004850)			breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18					Fluorouracil(DB00544)	AGAAGATATTCTCTATCATTT	0.398																																																0													137	135	136					7																	48139322		2203	4300	6503	SO:0001583	missense	7378			AK096167	CCDS5507.1	7p12.3	2012-10-02	2003-08-28	2003-08-29	ENSG00000183696	ENSG00000183696	2.4.2.3		12576	protein-coding gene	gene with protein product		191730	"uridine phosphorylase"	UP		752472, 11807789	Standard	NM_003364		Approved	UPASE, UPP, UDRPASE	uc003toj.3	Q16831	OTTHUMG00000129253	ENST00000331803.4:c.100C>A	chr7.hg19:g.48139322C>A	ENSP00000330032:p.Leu34Ile		D3DVM4|Q15362	Missense_Mutation	SNP	ENST00000331803.4	hg19	CCDS5507.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.182020	0.78677	.	.	ENSG00000183696	ENST00000416681;ENST00000331803;ENST00000341253;ENST00000395564;ENST00000436673	T;T;T;T;T	0.60797	0.46;0.16;0.16;0.16;0.47	5.43	4.52	0.55395	.	0.132798	0.48767	D	0.000165	T	0.74442	0.3717	M	0.83774	2.66	0.80722	D	1	D;D	0.71674	0.998;0.991	D;D	0.83275	0.996;0.949	T	0.76315	-0.3004	10	0.87932	D	0	-13.8768	8.0456	0.30547	0.0:0.806:0.0:0.194	.	34;34	B4DND0;Q16831	.;UPP1_HUMAN	I	34	ENSP00000405209:L34I;ENSP00000330032:L34I;ENSP00000342878:L34I;ENSP00000378931:L34I;ENSP00000390118:L34I	ENSP00000330032:L34I	L	+	1	0	UPP1	48105847	0.984000	0.35163	0.755000	0.31263	0.864000	0.49448	2.384000	0.44362	1.188000	0.43014	0.563000	0.77884	CTC		0.398	UPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251360.1	NM_003364		A	48139322	C	A	48139322	3	1	805	1	0	0	0	0	1	0	0	0	17017	913	32	4	106	4	UPP1	7	48139322	Missense_Mutation	SNP	C	TCGA-UZ-A9PR-01A-11D-A42J-10		48139322	110999341	37	48048											
NPTX2	4885	hgsc.bcm.edu	37	7	98257796	98257796	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr7:98257796G>A	ENST00000265634.3	+	5	1316	c.1151G>A	c.(1150-1152)cGc>cAc	p.R384H		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	384	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)			CGCGTCCTTCGCGCACAAGAA	0.567																																																0													98	77	84					7																	98257796		2203	4300	6503	SO:0001583	missense	4885				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.1151G>A	chr7.hg19:g.98257796G>A	ENSP00000265634:p.Arg384His		A4D267|Q86XV7|Q96G70	Missense_Mutation	SNP	ENST00000265634.3	hg19	CCDS5657.1	.	.	.	.	.	.	.	.	.	.	G	18.83	3.707444	0.68615	.	.	ENSG00000106236	ENST00000265634	T	0.58797	0.31	5.94	4.88	0.63580	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.142653	0.64402	D	0.000014	T	0.56381	0.1981	L	0.36672	1.1	0.09310	N	0.999998	D	0.57571	0.98	P	0.52758	0.708	T	0.53158	-0.8478	10	0.62326	D	0.03	-27.9605	10.4311	0.44409	0.1933:0.0:0.8067:0.0	.	384	P47972	NPTX2_HUMAN	H	384	ENSP00000265634:R384H	ENSP00000265634:R384H	R	+	2	0	NPTX2	98095732	0.088000	0.21588	0.292000	0.24919	0.792000	0.44763	1.644000	0.37228	2.826000	0.97356	0.561000	0.74099	CGC		0.567	NPTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334982.1	NM_002523		A	98257796	G	A	98257796	3	1	805	1	0	0	0	0	1	0	0	0	10605	1087	38	1	1169	1	NPTX2	7	98257796	Missense_Mutation	SNP	G	TCGA-UZ-A9PR-01A-11D-A42J-10	50118474	98257796	60880867	38	48049											
TNPO3	23534	hgsc.bcm.edu	37	7	128626881	128626881	+	Missense_Mutation	SNP	C	C	A			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr7:128626881C>A	ENST00000265388.5	-	12	1735	c.1592G>T	c.(1591-1593)cGa>cTa	p.R531L	TNPO3_ENST00000482320.1_Missense_Mutation_p.R465L|TNPO3_ENST00000471166.1_Missense_Mutation_p.R565L|TNPO3_ENST00000471234.1_Intron|TNPO3_ENST00000393245.1_Missense_Mutation_p.R565L			Q9Y5L0	TNPO3_HUMAN	transportin 3	531					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						CATGTGATCTCGGCAGACAGA	0.507																																					Pancreas(147;583 2585 39696 52331)											0													116	113	114					7																	128626881		2203	4300	6503	SO:0001583	missense	23534			AF145029	CCDS5809.1, CCDS55162.1	7q32.2	2014-02-03			ENSG00000064419	ENSG00000064419		"Importins"	17103	protein-coding gene	gene with protein product	"importin 12"	610032	"limb girdle muscular dystrophy 1F (autosomal dominant)"	LGMD1F		10366588, 10713112, 23543484, 23667635	Standard	NM_012470		Approved	TRN-SR, MTR10A, TRN-SR2, IPO12	uc003vol.2	Q9Y5L0	OTTHUMG00000158409	ENST00000265388.5:c.1592G>T	chr7.hg19:g.128626881C>A	ENSP00000265388:p.Arg531Leu		A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2	Missense_Mutation	SNP	ENST00000265388.5	hg19	CCDS5809.1	.	.	.	.	.	.	.	.	.	.	C	33	5.209311	0.95069	.	.	ENSG00000064419	ENST00000393245;ENST00000265388;ENST00000482320;ENST00000471166	T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25	6.17	6.17	0.99709	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75064	0.3799	L	0.58101	1.795	0.80722	D	1	D;B	0.59767	0.986;0.426	P;B	0.54759	0.76;0.175	T	0.72327	-0.4327	10	0.40728	T	0.16	.	18.3732	0.90420	0.0:1.0:0.0:0.0	.	565;531	C9J7E5;Q9Y5L0	.;TNPO3_HUMAN	L	565;531;465;565	ENSP00000376936:R565L;ENSP00000265388:R531L;ENSP00000420089:R465L;ENSP00000418267:R565L	ENSP00000265388:R531L	R	-	2	0	TNPO3	128414117	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.685000	0.84117	2.941000	0.99782	0.655000	0.94253	CGA		0.507	TNPO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350929.1	NM_012470		A	128626881	C	A	128626881	3	1	805	1	0	0	0	0	1	0	0	0	16342	884	31	4	1223	4	TNPO3	7	128626881	Missense_Mutation	SNP	C	TCGA-UZ-A9PR-01A-11D-A42J-10	30369085	128626881	30511782	39	48050											
PRSS55	203074	hgsc.bcm.edu	37	8	10396206	10396206	+	Missense_Mutation	SNP	G	G	A	rs200907557	byFrequency	TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr8:10396206G>A	ENST00000328655.3	+	5	1002	c.962G>A	c.(961-963)gGc>gAc	p.G321D	PRSS55_ENST00000522210.1_Intron|PRSS51_ENST00000523024.1_RNA	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	321						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						AAACCTATGGGCTCCCCAGTC	0.532																																																0													98	111	107					8																	10396206		2203	4300	6503	SO:0001583	missense	203074			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.962G>A	chr8.hg19:g.10396206G>A	ENSP00000333003:p.Gly321Asp		E5RJX5	Missense_Mutation	SNP	ENST00000328655.3	hg19	CCDS5976.1	.	.	.	.	.	.	.	.	.	.	G	0.578	-0.838381	0.02692	.	.	ENSG00000184647	ENST00000328655	D	0.88277	-2.36	3.64	-1.68	0.08212	.	1.695820	0.03580	N	0.229930	T	0.75598	0.3871	N	0.14661	0.345	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.61496	-0.7051	10	0.13470	T	0.59	.	2.6794	0.05089	0.3215:0.0:0.3306:0.3479	.	321	Q6UWB4	PRS55_HUMAN	D	321	ENSP00000333003:G321D	ENSP00000333003:G321D	G	+	2	0	PRSS55	10433616	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.489000	0.06490	-0.380000	0.07894	0.655000	0.94253	GGC		0.532	PRSS55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251493.3	NM_198464		A	10396206	G	A	10396206	3	1	805	1	0	0	0	0	1	0	0	0	12639	1203	42	2	980	2	PRSS55	8	10396206	Missense_Mutation	SNP	G	TCGA-UZ-A9PR-01A-11D-A42J-10		10396206	135967816	40	48051											
RP1L1	94137	hgsc.bcm.edu	37	8	10468692	10468692	+	Silent	SNP	T	T	C			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr8:10468692T>C	ENST00000382483.3	-	4	3139	c.2916A>G	c.(2914-2916)acA>acG	p.T972T		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	972					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)		CCAACTCATATGTCATGAGTA	0.627																																																0													53	58	56					8																	10468692		1955	4146	6101	SO:0001819	synonymous_variant	94137			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.2916A>G	chr8.hg19:g.10468692T>C			Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	ENST00000382483.3	hg19	CCDS43708.1																																																																																				0.627	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			C	10468692	T	C	10468692	2	2	805	1	0	0	0	0	0	0	0	1	13539	1451	51	3		3	RP1L1	8	10468692	Silent	SNP	T	TCGA-UZ-A9PR-01A-11D-A42J-10	72486	10468692	135895330	41	48052											
DOCK5	80005	hgsc.bcm.edu	37	8	25177162	25177162	+	Silent	SNP	C	C	T			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr8:25177162C>T	ENST00000276440.7	+	15	1556	c.1512C>T	c.(1510-1512)gtC>gtT	p.V504V		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	504	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)		ATTACCAAGTCAAGCAGCCCT	0.398																																					Pancreas(145;34 1887 3271 10937 30165)											0													99	91	94					8																	25177162		2197	4285	6482	SO:0001819	synonymous_variant	80005				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.1512C>T	chr8.hg19:g.25177162C>T			B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Silent	SNP	ENST00000276440.7	hg19	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	C	10.13	1.266657	0.23136	.	.	ENSG00000147459	ENST00000444569	.	.	.	5.78	4.89	0.63831	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2778	0.73756	0.0:0.7126:0.2873:0.0	.	.	.	.	X	276	.	.	Q	+	1	0	DOCK5	25233079	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.182000	0.42556	1.554000	0.49487	0.655000	0.94253	CAA		0.398	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		T	25177162	C	T	25177162	2	4	805	1	0	0	0	0	0	0	0	1	4692	813	29	2		2	DOCK5	8	25177162	Silent	SNP	C	TCGA-UZ-A9PR-01A-11D-A42J-10	14708470	25177162	121186860	42	48053											
ADAM2	2515	hgsc.bcm.edu	37	8	39691500	39691500	+	Missense_Mutation	SNP	T	T	A	rs150036296		TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr8:39691500T>A	ENST00000265708.4	-	3	254	c.151A>T	c.(151-153)Att>Ttt	p.I51F	ADAM2_ENST00000379853.2_Missense_Mutation_p.I51F|ADAM2_ENST00000523181.1_5'UTR|ADAM2_ENST00000521880.1_Missense_Mutation_p.I51F|ADAM2_ENST00000347580.4_Missense_Mutation_p.I51F	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	51					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)		TTCCCTTCAATTACAATTTTG	0.279																																																0													66	68	67					8																	39691500		2203	4288	6491	SO:0001583	missense	2515			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.151A>T	chr8.hg19:g.39691500T>A	ENSP00000265708:p.Ile51Phe		P78326|Q9UQQ8	Missense_Mutation	SNP	ENST00000265708.4	hg19	CCDS34884.1	.	.	.	.	.	.	.	.	.	.	T	14.35	2.509966	0.44660	.	.	ENSG00000104755	ENST00000347580;ENST00000379853;ENST00000265708;ENST00000521880	T;T;T;T	0.06608	3.28;3.28;3.28;3.28	4.72	4.72	0.59763	Peptidase M12B, propeptide (1);	.	.	.	.	T	0.16514	0.0397	L	0.48935	1.535	0.39409	D	0.96672	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.91635	0.997;0.999;0.997;0.998	T	0.01413	-1.1361	8	.	.	.	.	10.7702	0.46319	0.0:0.0:0.0:1.0	.	51;51;51;51	B4DWY7;Q6P2G0;Q99965-2;Q99965	.;.;.;ADAM2_HUMAN	F	51	ENSP00000343854:I51F;ENSP00000369182:I51F;ENSP00000265708:I51F;ENSP00000429352:I51F	.	I	-	1	0	ADAM2	39810657	0.958000	0.32768	0.882000	0.34594	0.043000	0.13939	2.930000	0.48924	2.104000	0.64026	0.528000	0.53228	ATT		0.279	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464		A	39691500	T	A	39691500	3	1	805	1	0	0	0	0	1	0	0	0	241	1493	52	5	2128	5	ADAM2	8	39691500	Missense_Mutation	SNP	T	TCGA-UZ-A9PR-01A-11D-A42J-10	14514338	39691500	106672522	43	48054											
SLC20A2	6575	hgsc.bcm.edu	37	8	42275393	42275393	+	Silent	SNP	G	G	T			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr8:42275393G>T	ENST00000342228.3	-	11	2256	c.1887C>A	c.(1885-1887)acC>acA	p.T629T	SLC20A2_ENST00000520262.1_Silent_p.T629T|SLC20A2_ENST00000520179.1_Silent_p.T629T	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	629					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)			CCACAGGGACGGTCACGAACC	0.587																																																0													79	72	74					8																	42275393		2203	4300	6503	SO:0001819	synonymous_variant	6575				CCDS6132.1	8p11.21	2013-05-22			ENSG00000168575	ENSG00000168575		"Solute carriers"	10947	protein-coding gene	gene with protein product		158378		MLVAR, GLVR2		7745689, 16790504	Standard	NM_001257180		Approved	PiT-2, Glvr-2	uc010lxm.4	Q08357	OTTHUMG00000164169	ENST00000342228.3:c.1887C>A	chr8.hg19:g.42275393G>T				Silent	SNP	ENST00000342228.3	hg19	CCDS6132.1																																																																																				0.587	SLC20A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377578.1			T	42275393	G	T	42275393	2	4	805	1	0	0	0	0	0	0	0	1	14445	1103	39	4		4	SLC20A2	8	42275393	Silent	SNP	G	TCGA-UZ-A9PR-01A-11D-A42J-10	2583893	42275393	104088629	44	48055											
CHD7	55636	hgsc.bcm.edu	37	8	61778469	61778469	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr8:61778469G>A	ENST00000423902.2	+	38	9450	c.8971G>A	c.(8971-8973)Gaa>Aaa	p.E2991K	CHD7_ENST00000524602.1_Missense_Mutation_p.E942K	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2991					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)			GGATGAAATAGAAAACAATGA	0.423																																																0													17	18	18					8																	61778469		1897	4123	6020	SO:0001583	missense	55636			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"CHARGE association"	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.8971G>A	chr8.hg19:g.61778469G>A	ENSP00000392028:p.Glu2991Lys		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	hg19	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.411068	0.42817	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000524602	D;T	0.83755	-1.76;1.77	4.47	4.47	0.54385	.	0.000000	0.47852	D	0.000205	T	0.73393	0.3581	N	0.22421	0.69	0.45403	D	0.998385	B	0.30914	0.3	B	0.23275	0.045	T	0.75693	-0.3229	10	0.72032	D	0.01	-17.0826	17.4855	0.87687	0.0:0.0:1.0:0.0	.	2991	Q9P2D1	CHD7_HUMAN	K	2991;2991;942	ENSP00000392028:E2991K;ENSP00000437061:E942K	ENSP00000307304:E2991K	E	+	1	0	CHD7	61941023	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.536000	0.67180	2.169000	0.68431	0.655000	0.94253	GAA		0.423	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		A	61778469	G	A	61778469	3	1	805	1	0	0	0	0	1	0	0	0	3332	943	33	2	9117	2	CHD7	8	61778469	Missense_Mutation	SNP	G	TCGA-UZ-A9PR-01A-11D-A42J-10	19503076	61778469	84585553	45	48056											
C8orf37	157657	hgsc.bcm.edu	37	8	96259954	96259954	+	Missense_Mutation	SNP	T	T	A			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr8:96259954T>A	ENST00000286688.5	-	6	526	c.515A>T	c.(514-516)aAg>aTg	p.K172M		NM_177965.3	NP_808880.1	Q96NL8	CH037_HUMAN	chromosome 8 open reading frame 37	172						cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.K172M(1)		kidney(1)|large_intestine(1)|lung(5)	7	Breast(36;3.41e-05)					TCCTTTCTTCTTTATCAACTT	0.398																																																1	Substitution - Missense(1)	large_intestine(1)											174	157	163					8																	96259954		2203	4300	6503	SO:0001583	missense	157657			AK055162	CCDS6268.1	8q22.1	2014-01-28			ENSG00000156172	ENSG00000156172			27232	protein-coding gene	gene with protein product		614477				22177090	Standard	NM_177965		Approved	FLJ30600, CORD16, RP64	uc003yho.2	Q96NL8	OTTHUMG00000164663	ENST00000286688.5:c.515A>T	chr8.hg19:g.96259954T>A	ENSP00000286688:p.Lys172Met			Missense_Mutation	SNP	ENST00000286688.5	hg19	CCDS6268.1	.	.	.	.	.	.	.	.	.	.	T	15.83	2.949731	0.53186	.	.	ENSG00000156172	ENST00000286688	D	0.83419	-1.72	5.42	2.98	0.34508	.	0.169978	0.50627	D	0.000105	D	0.85906	0.5806	M	0.69823	2.125	0.31460	N	0.669699	D	0.69078	0.997	P	0.58873	0.847	D	0.84150	0.0422	10	0.87932	D	0	-11.6379	5.4681	0.16654	0.0:0.1483:0.1478:0.7039	.	172	Q96NL8	CH037_HUMAN	M	172	ENSP00000286688:K172M	ENSP00000286688:K172M	K	-	2	0	C8orf37	96329130	1.000000	0.71417	0.489000	0.27452	0.730000	0.41778	2.446000	0.44908	0.352000	0.24053	0.459000	0.35465	AAG		0.398	C8orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379672.1	NM_177965		A	96259954	T	A	96259954	3	1	805	1	0	0	0	0	1	0	0	0	2425	1609	56	5	112	5	C8orf37	8	96259954	Missense_Mutation	SNP	T	TCGA-UZ-A9PR-01A-11D-A42J-10	34481485	96259954	50104068	46	48057											
POP1	10940	hgsc.bcm.edu	37	8	99168546	99168546	+	Missense_Mutation	SNP	G	G	T			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr8:99168546G>T	ENST00000401707.2	+	15	2407	c.2326G>T	c.(2326-2328)Ggg>Tgg	p.G776W	POP1_ENST00000349693.3_Missense_Mutation_p.G776W	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)	776					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)			AATGGATGCAGGGTGTCAAGA	0.547																																																0													126	124	125					8																	99168546		2203	4300	6503	SO:0001583	missense	10940			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.2326G>T	chr8.hg19:g.99168546G>T	ENSP00000385787:p.Gly776Trp		A8K5W9|Q15037	Missense_Mutation	SNP	ENST00000401707.2	hg19	CCDS6277.1	.	.	.	.	.	.	.	.	.	.	G	11.27	1.590008	0.28357	.	.	ENSG00000104356	ENST00000401707;ENST00000349693	T;T	0.36520	1.25;1.25	5.19	4.31	0.51392	.	1.118330	0.06500	N	0.736162	T	0.26159	0.0638	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.22034	-1.0228	10	0.66056	D	0.02	-6.2211	4.6366	0.12527	0.1876:0.0:0.6369:0.1755	.	776	Q99575	POP1_HUMAN	W	776	ENSP00000385787:G776W;ENSP00000339529:G776W	ENSP00000339529:G776W	G	+	1	0	POP1	99237722	0.724000	0.28038	0.719000	0.30619	0.043000	0.13939	1.668000	0.37481	1.170000	0.42753	0.591000	0.81541	GGG		0.547	POP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379470.1	NM_015029		T	99168546	G	T	99168546	3	4	805	1	0	0	0	0	1	0	0	0	12253	1000	35	4	2380	4	POP1	8	99168546	Missense_Mutation	SNP	G	TCGA-UZ-A9PR-01A-11D-A42J-10	2908592	99168546	47195476	47	48058											
BAI1	575	hgsc.bcm.edu	37	8	143558843	143558843	+	Silent	SNP	G	G	A			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr8:143558843G>A	ENST00000517894.1	+	6	2214	c.1320G>A	c.(1318-1320)caG>caA	p.Q440Q	BAI1_ENST00000323289.5_Silent_p.Q440Q			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	440	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				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)					GGCCCCCCCAGTTTGGGGGCA	0.657																																																0													44	51	49					8																	143558843		1978	4152	6130	SO:0001819	synonymous_variant	575			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.1320G>A	chr8.hg19:g.143558843G>A				Silent	SNP	ENST00000517894.1	hg19																																																																																					0.657	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		A	143558843	G	A	143558843	2	1	805	1	0	0	0	0	0	0	0	1	1298	1020	36	2		2	BAI1	8	143558843	Silent	SNP	G	TCGA-UZ-A9PR-01A-11D-A42J-10	44390297	143558843	2805179	48	48059											
VCP	7415	hgsc.bcm.edu	37	9	35066717	35066717	+	Missense_Mutation	SNP	A	A	T			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr9:35066717A>T	ENST00000358901.6	-	4	1295	c.400T>A	c.(400-402)Tac>Aac	p.Y134N		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	134					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)			GGCTTAAGGTATACCTCGAAG	0.473																																																0													134	111	119					9																	35066717		2203	4300	6503	SO:0001583	missense	7415			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.400T>A	chr9.hg19:g.35066717A>T	ENSP00000351777:p.Tyr134Asn		B2R5T8|Q0V924|Q2TAI5|Q969G7|Q9UCD5	Missense_Mutation	SNP	ENST00000358901.6	hg19	CCDS6573.1	.	.	.	.	.	.	.	.	.	.	A	28.8	4.952555	0.92660	.	.	ENSG00000165280	ENST00000358901;ENST00000448530;ENST00000417448	D;D;D	0.96745	-4.11;-4.11;-4.11	5.79	5.79	0.91817	Cell division protein 48, Cdc48, domain 2 (1);	0.000000	0.85682	D	0.000000	D	0.98764	0.9584	H	0.96208	3.785	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99609	1.0980	10	0.62326	D	0.03	-0.0218	16.1376	0.81497	1.0:0.0:0.0:0.0	.	134	P55072	TERA_HUMAN	N	134;89;89	ENSP00000351777:Y134N;ENSP00000392088:Y89N;ENSP00000399456:Y89N	ENSP00000351777:Y134N	Y	-	1	0	VCP	35056717	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	9.066000	0.93949	2.212000	0.71576	0.533000	0.62120	TAC		0.473	VCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052290.1	NM_007126		T	35066717	A	T	35066717	3	4	805	1	0	0	0	0	1	0	0	0	17145	449	16	5	2076	5	VCP	9	35066717	Missense_Mutation	SNP	A	TCGA-UZ-A9PR-01A-11D-A42J-10		35066717	106146714	49	48060											
NPR2	4882	hgsc.bcm.edu	37	9	35805967	35805967	+	Missense_Mutation	SNP	G	G	C			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr9:35805967G>C	ENST00000342694.2	+	14	2443	c.2188G>C	c.(2188-2190)Gac>Cac	p.D730H		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2	730	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)	GGAGGGCCTGGACCTCAGCCC	0.522																																																0													65	68	67					9																	35805967		2203	4300	6503	SO:0001583	missense	4882			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.2188G>C	chr9.hg19:g.35805967G>C	ENSP00000341083:p.Asp730His		B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Missense_Mutation	SNP	ENST00000342694.2	hg19	CCDS6590.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.40|11.40	1.626506|1.626506	0.28978|0.28978	.|.	.|.	ENSG00000159899|ENSG00000159899	ENST00000342694|ENST00000421267	T|.	0.63744|.	-0.06|.	5.82|5.82	5.82|5.82	0.92795|0.92795	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.46145|.	D|.	0.000309|.	T|T	0.57140|0.57140	0.2033|0.2033	N|N	0.26092|0.26092	0.79|0.79	0.58432|0.58432	D|D	0.999998|0.999998	B;P|.	0.37158|.	0.291;0.585|.	B;B|.	0.35353|.	0.1;0.201|.	T|T	0.49960|0.49960	-0.8883|-0.8883	10|5	0.49607|.	T|.	0.09|.	.|.	18.6867|18.6867	0.91567|0.91567	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	730;730|.	P20594-2;P20594|.	.;ANPRB_HUMAN|.	H|C	730|76	ENSP00000341083:D730H|.	ENSP00000341083:D730H|.	D|W	+|+	1|3	0|0	NPR2|NPR2	35795967|35795967	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	5.608000|5.608000	0.67654|0.67654	2.756000|2.756000	0.94617|0.94617	0.563000|0.563000	0.77884|0.77884	GAC|TGG		0.522	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1			C	35805967	G	C	35805967	3	2	805	1	0	0	0	0	1	0	0	0	10597	1174	41	4	2242	4	NPR2	9	35805967	Missense_Mutation	SNP	G	TCGA-UZ-A9PR-01A-11D-A42J-10	739250	35805967	105407464	50	48061											
PAX5	5079	hgsc.bcm.edu	37	9	36966620	36966620	+	Missense_Mutation	SNP	C	C	T			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr9:36966620C>T	ENST00000358127.4	-	6	780	c.706G>A	c.(706-708)Gtg>Atg	p.V236M	PAX5_ENST00000523145.1_Missense_Mutation_p.V128M|PAX5_ENST00000522003.1_Missense_Mutation_p.V128M|PAX5_ENST00000520154.1_Missense_Mutation_p.V236M|PAX5_ENST00000523241.1_Missense_Mutation_p.V236M|PAX5_ENST00000414447.1_Missense_Mutation_p.V193M|PAX5_ENST00000377847.2_Missense_Mutation_p.V236M|PAX5_ENST00000377852.2_Missense_Mutation_p.V236M|PAX5_ENST00000520281.1_Missense_Mutation_p.V193M|PAX5_ENST00000446742.1_Missense_Mutation_p.V170M|PAX5_ENST00000377853.2_Missense_Mutation_p.V236M	NM_001280554.1|NM_001280556.1|NM_016734.1	NP_001267483.1|NP_001267485.1|NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	236					humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|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)	p.?(41)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		CGGTCCAGCACCTCCAGCTGC	0.607			"T, Mis, D, F, S"	"IGH@, ETV6, PML, FOXP1, ZNF521, ELN"	"NHL, ALL, B-ALL"																																		Dom	yes		9	9p13	5079	paired box gene 5 (B-cell lineage specific activator protein)		L	41	Unknown(41)	haematopoietic_and_lymphoid_tissue(41)											121	97	105					9																	36966620		2203	4300	6503	SO:0001583	missense	5079				CCDS6607.1, CCDS65039.1, CCDS65040.1, CCDS65041.1, CCDS65042.1, CCDS65043.1, CCDS65044.1, CCDS65045.1, CCDS65046.1, CCDS65047.1, CCDS65048.1	9p13.2	2011-06-20	2007-07-12		ENSG00000196092	ENSG00000196092		"Paired boxes", "Homeoboxes / PRD class"	8619	protein-coding gene	gene with protein product	"B-cell lineage specific activator"	167414	"paired box gene 5 (B-cell lineage specific activator protein)", "paired box gene 5 (B-cell lineage specific activator)"			1516825, 8431641	Standard	NM_016734		Approved	BSAP	uc003zzo.1	Q02548	OTTHUMG00000019907	ENST00000358127.4:c.706G>A	chr9.hg19:g.36966620C>T	ENSP00000350844:p.Val236Met		A3QVP6|A3QVP7|A3QVP8|C0KTF6|C0KTF7|C0KTF8|C0KTF9|C0KTG0|O75933|Q5SFM2|Q6S728|Q6S729|Q6S730|Q6S731|Q6S732	Missense_Mutation	SNP	ENST00000358127.4	hg19	CCDS6607.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.015018	0.93404	.	.	ENSG00000196092	ENST00000358127;ENST00000377849;ENST00000377853;ENST00000377852;ENST00000523241;ENST00000520154;ENST00000520281;ENST00000446742;ENST00000522003;ENST00000523145;ENST00000414447;ENST00000377847;ENST00000524340	D;D;D;D;D;D;D;D;D;D;D;T	0.97811	-4.06;-4.05;-4.05;-4.55;-4.55;-4.51;-3.73;-1.79;-2.38;-4.52;-4.54;1.42	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.98153	0.9390	L	0.46885	1.475	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.71674	0.971;0.996;0.998;0.99;0.998;0.975;0.988;0.971;0.99;0.99	P;P;D;P;D;P;P;P;P;P	0.79784	0.543;0.823;0.949;0.675;0.993;0.805;0.862;0.543;0.675;0.675	D	0.99640	1.0988	10	0.72032	D	0.01	.	19.4277	0.94751	0.0:1.0:0.0:0.0	.	193;193;170;236;44;236;236;236;236;236	C0KTF8;C0KTF7;C0KTF9;C0KTF6;C0KTE2;E7ERW5;E7EQT0;Q6S730;Q6S731;Q02548	.;.;.;.;.;.;.;.;.;PAX5_HUMAN	M	236;128;236;236;236;236;193;170;128;128;193;236;44	ENSP00000350844:V236M;ENSP00000367084:V236M;ENSP00000367083:V236M;ENSP00000429637:V236M;ENSP00000429291:V236M;ENSP00000430773:V193M;ENSP00000404687:V170M;ENSP00000429359:V128M;ENSP00000429197:V128M;ENSP00000412188:V193M;ENSP00000367078:V236M;ENSP00000429404:V44M	ENSP00000350844:V236M	V	-	1	0	PAX5	36956620	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.398000	0.79919	2.568000	0.86640	0.655000	0.94253	GTG		0.607	PAX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052433.1			T	36966620	C	T	36966620	3	4	805	1	0	0	0	0	1	0	0	0	11484	507	18	2	489	2	PAX5	9	36966620	Missense_Mutation	SNP	C	TCGA-UZ-A9PR-01A-11D-A42J-10	1160653	36966620	104246811	51	48062											
USP20	10868	hgsc.bcm.edu	37	9	132630512	132630512	+	Missense_Mutation	SNP	G	G	C			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr9:132630512G>C	ENST00000315480.4	+	11	1077	c.919G>C	c.(919-921)Gcc>Ccc	p.A307P	USP20_ENST00000372429.3_Missense_Mutation_p.A307P|USP20_ENST00000358355.1_Missense_Mutation_p.A307P			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	307	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)				CAGCTCGCAGGCCGAGACGGA	0.647																																																0													42	53	49					9																	132630512		2074	4201	6275	SO:0001583	missense	10868			AB023220	CCDS43892.1	9q34.2	2014-07-15	2005-08-08		ENSG00000136878	ENSG00000136878		"Ubiquitin-specific peptidases"	12619	protein-coding gene	gene with protein product		615143	"ubiquitin specific protease 20"			12838346	Standard	NM_006676		Approved	KIAA1003	uc004byr.3	Q9Y2K6	OTTHUMG00000020793	ENST00000315480.4:c.919G>C	chr9.hg19:g.132630512G>C	ENSP00000313811:p.Ala307Pro		Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	Missense_Mutation	SNP	ENST00000315480.4	hg19	CCDS43892.1	.	.	.	.	.	.	.	.	.	.	G	11.66	1.705110	0.30232	.	.	ENSG00000136878	ENST00000372429;ENST00000315480;ENST00000358355	T;T;T	0.18657	2.2;2.2;2.2	4.95	4.95	0.65309	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	2.873660	0.01084	N	0.005051	T	0.22322	0.0538	L	0.29908	0.895	0.52501	D	0.999959	B	0.20459	0.045	B	0.18871	0.023	T	0.05533	-1.0879	10	0.40728	T	0.16	.	12.3196	0.54977	0.0:0.0:0.8311:0.1689	.	307	Q9Y2K6	UBP20_HUMAN	P	307	ENSP00000361506:A307P;ENSP00000313811:A307P;ENSP00000351122:A307P	ENSP00000313811:A307P	A	+	1	0	USP20	131670333	1.000000	0.71417	0.999000	0.59377	0.342000	0.28953	2.433000	0.44793	2.291000	0.77112	0.561000	0.74099	GCC		0.647	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054604.2			C	132630512	G	C	132630512	3	2	805	1	0	0	0	0	1	0	0	0	17057	1203	42	4	953	4	USP20	9	132630512	Missense_Mutation	SNP	G	TCGA-UZ-A9PR-01A-11D-A42J-10	95663892	132630512	8582919	52	48063											
SEC24C	9632	hgsc.bcm.edu	37	10	75526876	75526876	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr10:75526876G>A	ENST00000339365.2	+	15	2120	c.1958G>A	c.(1957-1959)gGg>gAg	p.G653E	SEC24C_ENST00000411652.2_Missense_Mutation_p.G534E|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000345254.4_Missense_Mutation_p.G653E|SEC24C_ENST00000540668.1_Intron	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	653					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					GAGGCCCCAGGGAAACTGAAG	0.468																																																0													89	88	88					10																	75526876		2203	4300	6503	SO:0001583	missense	9632			D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"SEC24 (S. cerevisiae) related gene family, member C", "SEC24 family, member C (S. cerevisiae)"			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.1958G>A	chr10.hg19:g.75526876G>A	ENSP00000343405:p.Gly653Glu		B4DZT4|Q8WV25	Missense_Mutation	SNP	ENST00000339365.2	hg19	CCDS7332.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550641	0.86127	.	.	ENSG00000176986	ENST00000345254;ENST00000339365;ENST00000411652	D;D;D	0.82344	-1.6;-1.6;-1.6	5.57	5.57	0.84162	Sec23/Sec24, trunk domain (1);	0.000000	0.85682	D	0.000000	D	0.94251	0.8154	H	0.95679	3.705	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	0.95471	0.8551	10	0.87932	D	0	-9.8933	19.6032	0.95572	0.0:0.0:1.0:0.0	.	534;653;653	E7EP00;G5EA31;P53992	.;.;SC24C_HUMAN	E	653;653;534	ENSP00000321845:G653E;ENSP00000343405:G653E;ENSP00000402913:G534E	ENSP00000343405:G653E	G	+	2	0	SEC24C	75196882	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.643000	0.89663	0.555000	0.69702	GGG		0.468	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1			A	75526876	G	A	75526876	3	1	805	1	0	0	0	0	1	0	0	0	14002	1232	43	2	2008	2	SEC24C	10	75526876	Missense_Mutation	SNP	G	TCGA-UZ-A9PR-01A-11D-A42J-10		75526876	60007871	53	48064											
FGFBP3	143282	hgsc.bcm.edu	37	10	93667973	93667973	+	Missense_Mutation	SNP	A	A	C			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr10:93667973A>C	ENST00000311575.5	-	2	917	c.754T>G	c.(754-756)Ttt>Gtt	p.F252V	RP11-402D21.2_ENST00000610263.1_RNA	NM_152429.4	NP_689642.3	Q8TAT2	FGFP3_HUMAN	fibroblast growth factor binding protein 3	252					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)				AAATTGACAAAGAAGTTGCAG	0.647																																																0													48	51	50					10																	93667973		2203	4299	6502	SO:0001583	missense	143282			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.754T>G	chr10.hg19:g.93667973A>C	ENSP00000339067:p.Phe252Val		B2RD68|Q8NBN0	Missense_Mutation	SNP	ENST00000311575.5	hg19	CCDS7418.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.631498	0.87660	.	.	ENSG00000174721	ENST00000311575	T	0.20200	2.09	4.45	4.45	0.53987	.	0.000000	0.64402	D	0.000001	T	0.44829	0.1312	M	0.74258	2.255	0.48236	D	0.999614	D	0.89917	1.0	D	0.91635	0.999	T	0.45906	-0.9229	10	0.87932	D	0	-3.1889	11.6122	0.51066	1.0:0.0:0.0:0.0	.	252	Q8TAT2	FGFP3_HUMAN	V	252	ENSP00000339067:F252V	ENSP00000339067:F252V	F	-	1	0	FGFBP3	93657953	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.802000	0.55553	1.988000	0.58038	0.533000	0.62120	TTT		0.647	FGFBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049379.1	NM_152429		C	93667973	A	C	93667973	3	2	805	1	0	0	0	0	1	0	0	0	5864	72	3	5	26	5	FGFBP3	10	93667973	Missense_Mutation	SNP	A	TCGA-UZ-A9PR-01A-11D-A42J-10	18141097	93667973	41866774	54	48065											
C11orf40	143501	hgsc.bcm.edu	37	11	4599028	4599028	+	Missense_Mutation	SNP	A	A	G			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr11:4599028A>G	ENST00000307616.1	-	1	22	c.23T>C	c.(22-24)gTg>gCg	p.V8A		NM_144663.1	NP_653264.1	Q8WZ69	CK040_HUMAN	chromosome 11 open reading frame 40	8										large_intestine(3)|lung(1)|ovary(2)|stomach(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;4.28e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		ttctctgggcaccagcgcctg	0.498																																																0													36	31	32					11																	4599028		2191	4276	6467	SO:0001583	missense	143501				CCDS31354.1	11p15.5	2005-10-03			ENSG00000171987	ENSG00000171987			23986	protein-coding gene	gene with protein product							Standard	NM_144663		Approved	NOV1	uc010qyg.2	Q8WZ69	OTTHUMG00000165345	ENST00000307616.1:c.23T>C	chr11.hg19:g.4599028A>G	ENSP00000302918:p.Val8Ala			Missense_Mutation	SNP	ENST00000307616.1	hg19	CCDS31354.1	.	.	.	.	.	.	.	.	.	.	A	0.010	-1.754303	0.00663	.	.	ENSG00000171987	ENST00000307616	T	0.54866	0.55	0.235	-0.47	0.12131	.	.	.	.	.	T	0.25754	0.0627	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.15752	-1.0426	8	0.87932	D	0	.	.	.	.	.	8	Q8WZ69	CK040_HUMAN	A	8	ENSP00000302918:V8A	ENSP00000302918:V8A	V	-	2	0	C11orf40	4555604	0.003000	0.15002	0.001000	0.08648	0.001000	0.01503	-0.597000	0.05713	-2.313000	0.00648	-2.381000	0.00232	GTG		0.498	C11orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383529.1	NM_144663		G	4599028	A	G	4599028	3	3	805	1	0	0	0	0	1	0	0	0	1641	159	6	3	645	3	C11orf40	11	4599028	Missense_Mutation	SNP	A	TCGA-UZ-A9PR-01A-11D-A42J-10		4599028	130407488	55	48066											
PRRG4	79056	hgsc.bcm.edu	37	11	32858352	32858352	+	Silent	SNP	G	G	A			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr11:32858352G>A	ENST00000257836.3	+	3	505	c.252G>A	c.(250-252)gtG>gtA	p.V84V		NM_024081.5	NP_076986.1	Q9BZD6	TMG4_HUMAN	proline rich Gla (G-carboxyglutamic acid) 4 (transmembrane)	84	Gla. {ECO:0000255|PROSITE- ProRule:PRU00463}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	7	Breast(20;0.206)					AGATTTTTGTGGATGAAGATA	0.358																																																0													72	73	73					11																	32858352		2202	4299	6501	SO:0001819	synonymous_variant	79056			AF326351	CCDS7881.1	11p13	2008-02-05			ENSG00000135378	ENSG00000135378			30799	protein-coding gene	gene with protein product		611690				11171957	Standard	NM_024081		Approved	TMG4	uc001mtx.3	Q9BZD6	OTTHUMG00000166219	ENST00000257836.3:c.252G>A	chr11.hg19:g.32858352G>A				Silent	SNP	ENST00000257836.3	hg19	CCDS7881.1																																																																																				0.358	PRRG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388446.1	NM_024081		A	32858352	G	A	32858352	2	1	805	1	0	0	0	0	0	0	0	1	12613	1335	47	2		2	PRRG4	11	32858352	Silent	SNP	G	TCGA-UZ-A9PR-01A-11D-A42J-10	28259324	32858352	102148164	56	48067											
ADAMTS8	11095	hgsc.bcm.edu	37	11	130281414	130281414	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr11:130281414G>A	ENST00000257359.6	-	6	2354	c.1648C>T	c.(1648-1650)Cac>Tac	p.H550Y		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	550	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	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;0.039)|Lung(977;0.213)		CACTCACGGTGTGAAAACTGT	0.597																																																0													76	81	79					11																	130281414		2017	4162	6179	SO:0001583	missense	11095			AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"ADAM metallopeptidases with thrombospondin type 1 motif"	224	protein-coding gene	gene with protein product		605175	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.1648C>T	chr11.hg19:g.130281414G>A	ENSP00000257359:p.His550Tyr		Q9NZS0	Missense_Mutation	SNP	ENST00000257359.6	hg19	CCDS41732.1	.	.	.	.	.	.	.	.	.	.	G	2.888	-0.230363	0.05983	.	.	ENSG00000134917	ENST00000257359;ENST00000414575	T	0.52754	0.65	5.58	-2.86	0.05717	.	0.619078	0.19024	N	0.124760	T	0.16599	0.0399	N	0.10664	0.02	0.22562	N	0.998988	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.001	T	0.29971	-0.9994	10	0.05351	T	0.99	.	5.4963	0.16805	0.4596:0.0:0.324:0.2164	.	550;31	Q9UP79;B3KVX9	ATS8_HUMAN;.	Y	550;579	ENSP00000257359:H550Y	ENSP00000257359:H550Y	H	-	1	0	ADAMTS8	129786624	0.000000	0.05858	0.560000	0.28344	0.982000	0.71751	-0.457000	0.06745	-0.431000	0.07307	0.591000	0.81541	CAC		0.597	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037		A	130281414	G	A	130281414	3	1	805	1	0	0	0	0	1	0	0	0	272	1377	48	2	1037	2	ADAMTS8	11	130281414	Missense_Mutation	SNP	G	TCGA-UZ-A9PR-01A-11D-A42J-10	97423062	130281414	4725102	57	48068											
KDM5A	5927	hgsc.bcm.edu	37	12	427414	427417	+	Frame_Shift_Del	DEL	AAGT	AAGT	-	rs542998005		TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	AAGT	AAGT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr12:427414_427417delAAGT	ENST00000399788.2	-	19	3114_3117	c.2752_2755delACTT	c.(2752-2757)actttgfs	p.TL918fs	KDM5A_ENST00000382815.4_Frame_Shift_Del_p.TL918fs	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	918					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						ATGACATCCAAAGTGACTTGTTGC	0.5			T	NUP98	AML																																		Dom	yes		12	12p11	5927	"lysine (K)-specific demethylase 5A, JARID1A"		L	0																																										SO:0001589	frameshift_variant	5927				CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	9886	protein-coding gene	gene with protein product		180202	"retinoblastoma-binding protein 2", "Jumonji, AT rich interactive domain 1A (RBBP2-like)", "jumonji, AT rich interactive domain 1A"	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.2752_2755delACTT	chr12.hg19:g.427414_427417delAAGT	ENSP00000382688:p.Thr918fs		A8MV76|Q4LE72|Q86XZ1	Frame_Shift_Del	DEL	ENST00000399788.2	hg19	CCDS41736.1																																																																																				0.5	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056		-	427417	AAGT	-	427414	7	5	805	1	0	1	0	1	0	0	0	0	8135	11	1	0	2357	0	KDM5A	12	427414	Frame_Shift_Del	DEL	AAGT	TCGA-UZ-A9PR-01A-11D-A42J-10		427414	133424481	58	48069											
CACNA2D4	93589	hgsc.bcm.edu	37	12	1995492	1995492	+	Missense_Mutation	SNP	T	T	G			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr12:1995492T>G	ENST00000382722.5	-	8	1252	c.890A>C	c.(889-891)gAc>gCc	p.D297A	CACNA2D4_ENST00000585708.1_Missense_Mutation_p.D233A|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.D297A|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.D233A|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.D297A|CACNA2D4_ENST00000585732.1_Intron	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)		GCCGCTCACGTCCACCAAAAT	0.483																																					Colon(2;101 179 21030 23310 28141)											0													117	114	115					12																	1995492		2088	4212	6300	SO:0001583	missense	93589			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.890A>C	chr12.hg19:g.1995492T>G	ENSP00000372169:p.Asp297Ala		Q7Z3S8|Q86XZ5|Q8IZS9	Missense_Mutation	SNP	ENST00000382722.5	hg19	CCDS44785.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.434780	0.83885	.	.	ENSG00000151062	ENST00000456077;ENST00000280663;ENST00000382722	T	0.62788	0.0	5.17	5.17	0.71159	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	T	0.80737	0.4680	M	0.90759	3.145	0.80722	D	1	D	0.55605	0.972	P	0.60012	0.867	D	0.85404	0.1133	10	0.87932	D	0	.	15.0248	0.71659	0.0:0.0:0.0:1.0	.	297	Q7Z3S7	CA2D4_HUMAN	A	233;297;297	ENSP00000372169:D297A	ENSP00000280663:D297A	D	-	2	0	CACNA2D4	1865753	1.000000	0.71417	0.287000	0.24848	0.983000	0.72400	7.867000	0.87062	1.959000	0.56917	0.533000	0.62120	GAC		0.483	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2			G	1995492	T	G	1995492	3	3	805	1	0	0	0	0	1	0	0	0	2553	1667	58	5	2647	5	CACNA2D4	12	1995492	Missense_Mutation	SNP	T	TCGA-UZ-A9PR-01A-11D-A42J-10	1568078	1995492	131856403	59	48070											
A2M	2	hgsc.bcm.edu	37	12	9221412	9221412	+	Missense_Mutation	SNP	G	G	C			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr12:9221412G>C	ENST00000318602.7	-	34	4597	c.4290C>G	c.(4288-4290)ttC>ttG	p.F1430L	A2M-AS1_ENST00000499762.1_RNA	NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1430					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)	GAACCGTGAAGAACAAGCTCA	0.403																																																0													72	69	70					12																	9221412		1889	4108	5997	SO:0001583	missense	2			BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.4290C>G	chr12.hg19:g.9221412G>C	ENSP00000323929:p.Phe1430Leu		Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	ENST00000318602.7	hg19	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.062257	0.36373	.	.	ENSG00000175899	ENST00000318602;ENST00000540099	T	0.21031	2.03	4.39	2.55	0.30701	Alpha-macroglobulin, receptor-binding (3);	0.976288	0.08422	N	0.948210	T	0.11922	0.0290	N	0.12746	0.255	0.30277	N	0.791725	B	0.14012	0.009	B	0.19148	0.024	T	0.25779	-1.0122	10	0.87932	D	0	.	3.9445	0.09343	0.2917:0.1798:0.5285:0.0	.	1430	P01023	A2MG_HUMAN	L	1430;1445	ENSP00000323929:F1430L	ENSP00000323929:F1430L	F	-	3	2	A2M	9112679	0.993000	0.37304	0.882000	0.34594	0.755000	0.42902	0.316000	0.19469	0.587000	0.29643	0.655000	0.94253	TTC		0.403	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		C	9221412	G	C	9221412	3	2	805	1	0	0	0	0	1	0	0	0	4	933	33	4	146	4	A2M	12	9221412	Missense_Mutation	SNP	G	TCGA-UZ-A9PR-01A-11D-A42J-10	7225920	9221412	124630483	60	48071											
PRICKLE1	144165	hgsc.bcm.edu	37	12	42860028	42860028	+	Missense_Mutation	SNP	G	G	T			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr12:42860028G>T	ENST00000455697.1	-	6	1028	c.743C>A	c.(742-744)gCg>gAg	p.A248E	RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.A248E|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.A248E|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.A248E|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.A248E	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	248	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)	p.A248V(1)		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)		ACAGTACTCCGCATAGAGAGA	0.522																																																1	Substitution - Missense(1)	large_intestine(1)											76	73	74					12																	42860028		2203	4300	6503	SO:0001583	missense	144165			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.743C>A	chr12.hg19:g.42860028G>T	ENSP00000401060:p.Ala248Glu		Q14C83|Q71QF8|Q96N00	Missense_Mutation	SNP	ENST00000455697.1	hg19	CCDS8742.1	.	.	.	.	.	.	.	.	.	.	G	35	5.519420	0.96416	.	.	ENSG00000139174	ENST00000455697;ENST00000445766;ENST00000548696;ENST00000345127;ENST00000552240	D;D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38;-2.38	5.18	5.18	0.71444	Zinc finger, LIM-type (2);	0.094019	0.64402	D	0.000001	D	0.95589	0.8566	M	0.93462	3.42	0.80722	D	1	P	0.51240	0.943	P	0.59546	0.859	D	0.96420	0.9311	10	0.72032	D	0.01	-4.697	19.0641	0.93103	0.0:0.0:1.0:0.0	.	248	Q96MT3	PRIC1_HUMAN	E	248	ENSP00000401060:A248E;ENSP00000398947:A248E;ENSP00000448359:A248E;ENSP00000345064:A248E;ENSP00000449819:A248E	ENSP00000345064:A248E	A	-	2	0	PRICKLE1	41146295	1.000000	0.71417	0.663000	0.29738	0.994000	0.84299	9.813000	0.99286	2.590000	0.87494	0.561000	0.74099	GCG		0.522	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404069.1			T	42860028	G	T	42860028	3	4	805	1	0	0	0	0	1	0	0	0	12491	1087	38	4	1764	4	PRICKLE1	12	42860028	Missense_Mutation	SNP	G	TCGA-UZ-A9PR-01A-11D-A42J-10	33638616	42860028	90991867	61	48072											
MLL2	8085	hgsc.bcm.edu	37	12	49427988	49427988	+	Silent	SNP	T	T	G			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr12:49427988T>G	ENST00000301067.7	-	38	10601	c.10602A>C	c.(10600-10602)gtA>gtC	p.V3534V	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3534	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										ACTTGCGGTGTACACCAATCT	0.557																																																0													107	107	107					12																	49427988		2036	4195	6231	SO:0001819	synonymous_variant	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.10602A>C	chr12.hg19:g.49427988T>G			O14687	Silent	SNP	ENST00000301067.7	hg19	CCDS44873.1																																																																																				0.557	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			G	49427988	T	G	49427988	2	3	805	1	0	0	0	0	0	0	0	1	9623	1625	57	5		5	MLL2	12	49427988	Silent	SNP	T	TCGA-UZ-A9PR-01A-11D-A42J-10	6567960	49427988	84423907	62	48073											
GEFT	115557	hgsc.bcm.edu	37	12	58009476	58009476	+	Missense_Mutation	SNP	T	T	C			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr12:58009476T>C	ENST00000286494.4	+	12	1680	c.1220T>C	c.(1219-1221)gTa>gCa	p.V407A	AC025165.8_ENST00000444467.1_RNA|ARHGEF25_ENST00000333972.7_Missense_Mutation_p.V446A|AC025165.8_ENST00000593846.1_RNA|AC025165.8_ENST00000610219.1_RNA|AC025165.8_ENST00000356672.3_RNA	NM_182947.3	NP_891992	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	407	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					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						CCTGGATATGTATACAAGAAC	0.557																																																0													86	82	84					12																	58009476		2203	4300	6503	SO:0001583	missense	115557				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.1220T>C	chr12.hg19:g.58009476T>C	ENSP00000286494:p.Val407Ala		A6NJH5|A9CQZ6|F8W7Z4|Q8WV84|Q96E63	Missense_Mutation	SNP	ENST00000286494.4	hg19	CCDS8947.1	.	.	.	.	.	.	.	.	.	.	t	18.73	3.686721	0.68157	.	.	ENSG00000240771	ENST00000333972;ENST00000300189;ENST00000286494	T;T	0.12255	2.7;2.7	4.91	4.91	0.64330	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.34460	N	0.003949	T	0.21509	0.0518	L	0.34521	1.04	0.41536	D	0.988484	P;P;P	0.49961	0.93;0.786;0.606	P;P;B	0.56865	0.808;0.574;0.165	T	0.00844	-1.1543	10	0.59425	D	0.04	.	12.823	0.57704	0.0:0.0:0.0:1.0	.	446;407;255	F8W7Z4;Q86VW2;Q96M35	.;ARHGP_HUMAN;.	A	446;255;407	ENSP00000335560:V446A;ENSP00000286494:V407A	ENSP00000286494:V407A	V	+	2	0	ARHGEF25	56295743	0.992000	0.36948	0.998000	0.56505	0.967000	0.64934	2.333000	0.43912	2.200000	0.70718	0.459000	0.35465	GTA		0.557	ARHGEF25-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000326561.1	NM_133483		C	58009476	T	C	58009476	3	2	805	1	0	0	0	0	1	0	0	0	6330	1638	57	3	1488	3	GEFT	12	58009476	Missense_Mutation	SNP	T	TCGA-UZ-A9PR-01A-11D-A42J-10	8581488	58009476	75842419	63	48074											
AMDHD1	144193	hgsc.bcm.edu	37	12	96354188	96354188	+	Silent	SNP	T	T	C			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr12:96354188T>C	ENST00000266736.2	+	5	706	c.600T>C	c.(598-600)gcT>gcC	p.A200A		NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	200					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)	imidazolonepropionase activity (GO:0050480)|metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						GAAAAACTGCTACTGAAGCTG	0.413																																																0													72	68	69					12																	96354188		2203	4300	6503	SO:0001819	synonymous_variant	144193			AB075878	CCDS9057.1	12q23.1	2006-02-02				ENSG00000139344			28577	protein-coding gene	gene with protein product							Standard	NM_152435		Approved	MGC35366	uc001tel.2	Q96NU7	OTTHUMG00000170353	ENST00000266736.2:c.600T>C	chr12.hg19:g.96354188T>C			A8K463|Q68CI8	Silent	SNP	ENST00000266736.2	hg19	CCDS9057.1																																																																																				0.413	AMDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408640.1	NM_152435		C	96354188	T	C	96354188	2	2	805	1	0	0	0	0	0	0	0	1	567	1509	53	3		3	AMDHD1	12	96354188	Silent	SNP	T	TCGA-UZ-A9PR-01A-11D-A42J-10	38344712	96354188	37497707	64	48075											
UHRF1BP1L	23074	hgsc.bcm.edu	37	12	100452754	100452754	+	Missense_Mutation	SNP	C	C	G			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr12:100452754C>G	ENST00000279907.7	-	14	2513	c.2301G>C	c.(2299-2301)aaG>aaC	p.K767N	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.K417N	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	767										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						CCTTCAAGAGCTTCTTCCGCT	0.423																																																0													90	95	93					12																	100452754		2203	4300	6503	SO:0001583	missense	23074				CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.2301G>C	chr12.hg19:g.100452754C>G	ENSP00000279907:p.Lys767Asn		A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Missense_Mutation	SNP	ENST00000279907.7	hg19	CCDS31882.1	.	.	.	.	.	.	.	.	.	.	C	13.01	2.109066	0.37242	.	.	ENSG00000111647	ENST00000279907;ENST00000545232	T;T	0.11712	2.78;2.75	6.02	1.02	0.19986	.	0.050512	0.85682	D	0.000000	T	0.27933	0.0688	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.01218	-1.1415	10	0.72032	D	0.01	-14.4859	11.2229	0.48866	0.0:0.5744:0.0:0.4256	.	767	A0JNW5	UH1BL_HUMAN	N	767;417	ENSP00000279907:K767N;ENSP00000444824:K417N	ENSP00000279907:K767N	K	-	3	2	UHRF1BP1L	98976885	0.914000	0.31030	0.999000	0.59377	0.772000	0.43724	0.021000	0.13489	0.138000	0.18790	-0.813000	0.03139	AAG		0.423	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947		G	100452754	C	G	100452754	3	3	805	1	0	0	0	0	1	0	0	0	16974	796	28	4	2125	4	UHRF1BP1L	12	100452754	Missense_Mutation	SNP	C	TCGA-UZ-A9PR-01A-11D-A42J-10	4098566	100452754	33399141	65	48076											
ACACB	32	hgsc.bcm.edu	37	12	109687792	109687792	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr12:109687792C>A	ENST00000338432.7	+	41	5792	c.5673C>A	c.(5671-5673)taC>taA	p.Y1891*	ACACB_ENST00000543201.1_Nonsense_Mutation_p.Y557*|ACACB_ENST00000377854.5_Nonsense_Mutation_p.Y1821*|ACACB_ENST00000377848.3_Nonsense_Mutation_p.Y1891*			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1891	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)	TTTGAAGATACATGATCACGG	0.517																																																0													138	132	134					12																	109687792		2203	4300	6503	SO:0001587	stop_gained	32			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 2"	601557	"acetyl-Coenzyme A carboxylase beta"			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.5673C>A	chr12.hg19:g.109687792C>A	ENSP00000341044:p.Tyr1891*		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Nonsense_Mutation	SNP	ENST00000338432.7	hg19	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	C	41	8.656271	0.98903	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027;ENST00000543201	.	.	.	5.57	-5.5	0.02576	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.864	0.86025	0.0:0.3736:0.0:0.6264	.	.	.	.	X	1891;1891;1821;1122;557	.	ENSP00000341044:Y1891X	Y	+	3	2	ACACB	108172175	0.029000	0.19370	0.082000	0.20525	0.002000	0.02628	-0.588000	0.05774	-1.142000	0.02869	-0.808000	0.03180	TAC		0.517	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		A	109687792	C	A	109687792	4	1	805	1	0	0	0	0	0	1	0	0	107	489	17	4	5831	4	ACACB	12	109687792	Nonsense_Mutation	SNP	C	TCGA-UZ-A9PR-01A-11D-A42J-10	9235038	109687792	24164103	66	48077											
HTR2A	3356	hgsc.bcm.edu	37	13	47408978	47408978	+	Silent	SNP	A	A	G			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr13:47408978A>G	ENST00000378688.4	-	3	1541	c.1410T>C	c.(1408-1410)tgT>tgC	p.C470C	HTR2A_ENST00000543956.1_Silent_p.C386C|HTR2A_ENST00000542664.1_Silent_p.C470C			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	470					activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|behavioral response to cocaine (GO:0048148)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|memory (GO:0007613)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of vasoconstriction (GO:0045907)|protein localization to cytoskeleton (GO:0044380)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|regulation of hormone secretion (GO:0046883)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|sleep (GO:0030431)|synaptic transmission (GO:0007268)|temperature homeostasis (GO:0001659)|urinary bladder smooth muscle contraction (GO:0014832)	cell body fiber (GO:0070852)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Acepromazine(DB01614)|Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinitapride(DB08810)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Donepezil(DB00843)|Doxepin(DB01142)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Pergolide(DB01186)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CCTATCACACACAGCTCACCT	0.413																																																0													102	99	100					13																	47408978		2203	4300	6503	SO:0001819	synonymous_variant	3356			X57830	CCDS9405.1, CCDS53867.1	13q14-q21	2012-08-08	2012-02-03		ENSG00000102468	ENSG00000102468		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5293	protein-coding gene	gene with protein product		182135	"5-hydroxytryptamine (serotonin) receptor 2A"	HTR2		8035173	Standard	NM_000621		Approved	5-HT2A	uc010acr.4	P28223	OTTHUMG00000016881	ENST00000378688.4:c.1410T>C	chr13.hg19:g.47408978A>G			B2RAC5|B4DZ79|F5GWE8|Q5T8C0	Silent	SNP	ENST00000378688.4	hg19	CCDS9405.1																																																																																				0.413	HTR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044835.3	NM_000621		G	47408978	A	G	47408978	2	3	805	1	0	0	0	0	0	0	0	1	7443	157	6	3		3	HTR2A	13	47408978	Silent	SNP	A	TCGA-UZ-A9PR-01A-11D-A42J-10		47408978	67760900	67	48078											
OR4K2	390431	hgsc.bcm.edu	37	14	20345243	20345243	+	Missense_Mutation	SNP	G	G	C			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr14:20345243G>C	ENST00000298642.2	+	1	853	c.817G>C	c.(817-819)Gtg>Ctg	p.V273L		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	273						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)		GATTCTGTCTGTGTTTTATAC	0.383																																																0													142	143	143					14																	20345243		2203	4300	6503	SO:0001583	missense	390431				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.817G>C	chr14.hg19:g.20345243G>C	ENSP00000298642:p.Val273Leu		B2RNK8|Q6IFA5	Missense_Mutation	SNP	ENST00000298642.2	hg19	CCDS32023.1	.	.	.	.	.	.	.	.	.	.	.	16.88	3.243649	0.58995	.	.	ENSG00000165762	ENST00000298642	T	0.00245	8.45	5.16	4.27	0.50696	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44688	D	0.000435	T	0.00241	0.0007	L	0.28344	0.845	0.30016	N	0.81477	P	0.51147	0.942	P	0.55508	0.777	T	0.63047	-0.6724	10	0.49607	T	0.09	.	11.2916	0.49254	0.0883:0.0:0.9117:0.0	.	273	Q8NGD2	OR4K2_HUMAN	L	273	ENSP00000298642:V273L	ENSP00000298642:V273L	V	+	1	0	OR4K2	19415083	0.002000	0.14202	1.000000	0.80357	0.956000	0.61745	0.041000	0.13927	1.407000	0.46875	0.591000	0.81541	GTG		0.383	OR4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409864.1			C	20345243	G	C	20345243	3	2	805	1	0	0	0	0	1	0	0	0	11074	1377	48	4	819	4	OR4K2	14	20345243	Missense_Mutation	SNP	G	TCGA-UZ-A9PR-01A-11D-A42J-10		20345243	87004297	68	48079											
LTB4R2	56413	hgsc.bcm.edu	37	14	24780907	24780907	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr14:24780907G>A	ENST00000528054.1	+	1	2747	c.1130G>A	c.(1129-1131)gGg>gAg	p.G377E	LTB4R_ENST00000396789.4_5'Flank|LTB4R2_ENST00000533293.1_Missense_Mutation_p.G346E|LTB4R2_ENST00000543919.1_Missense_Mutation_p.G346E|CIDEB_ENST00000258807.5_5'Flank|LTB4R_ENST00000345363.3_5'UTR|LTB4R_ENST00000396782.2_5'Flank|CIDEB_ENST00000555817.1_5'Flank|CIDEB_ENST00000336557.5_5'Flank			Q9NPC1	LT4R2_HUMAN	leukotriene B4 receptor 2	377					chemotaxis (GO:0006935)|keratinocyte migration (GO:0051546)|negative regulation of adenylate cyclase activity (GO:0007194)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	leukotriene B4 receptor activity (GO:0001632)|leukotriene receptor activity (GO:0004974)			endometrium(1)|lung(1)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.018)		GGAGACCCGGGGGGTGGGATG	0.667																																																0													33	40	38					14																	24780907		2192	4259	6451	SO:0001583	missense	56413			AB008193	CCDS9625.1, CCDS9625.2	14q12	2014-04-11			ENSG00000213906	ENSG00000213906		"GPCR / Class A : Leukotriene receptors"	19260	protein-coding gene	gene with protein product		605773				11006272, 10934229	Standard	NM_001164692		Approved	BLTR2, BLT2, JULF2, NOP9	uc001wor.3	Q9NPC1	OTTHUMG00000186500	ENST00000528054.1:c.1130G>A	chr14.hg19:g.24780907G>A	ENSP00000432146:p.Gly377Glu		Q5KU28|Q9NPE5	Missense_Mutation	SNP	ENST00000528054.1	hg19		.	.	.	.	.	.	.	.	.	.	G	31	5.073887	0.94000	.	.	ENSG00000213906	ENST00000528054;ENST00000533293;ENST00000543919	T;T;T	0.71103	-0.54;-0.48;-0.48	4.19	4.19	0.49359	.	0.730840	0.11363	U	0.571663	T	0.59252	0.2180	N	0.19112	0.55	0.80722	D	1	B	0.18461	0.028	B	0.12156	0.007	T	0.56950	-0.7894	10	0.87932	D	0	.	14.4001	0.67037	0.0:0.0:1.0:0.0	.	377	Q9NPC1	LT4R2_HUMAN	E	377;346;346	ENSP00000432146:G377E;ENSP00000433290:G346E;ENSP00000445772:G346E	ENSP00000337731:G377E	G	+	2	0	LTB4R2	23850747	0.087000	0.21565	0.925000	0.36789	0.935000	0.57460	1.180000	0.32005	2.059000	0.61396	0.467000	0.42956	GGG		0.667	LTB4R2-001	KNOWN	basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000073194.4			A	24780907	G	A	24780907	3	1	805	1	0	0	0	0	1	0	0	0	9074	1232	43	2	1039	2	LTB4R2	14	24780907	Missense_Mutation	SNP	G	TCGA-UZ-A9PR-01A-11D-A42J-10	4435664	24780907	82568633	69	48080											
FANCM	57697	hgsc.bcm.edu	37	14	45654450	45654450	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr14:45654450G>A	ENST00000267430.5	+	18	4631	c.4546G>A	c.(4546-4548)Gca>Aca	p.A1516T	FANCM_ENST00000555013.1_3'UTR|FANCM_ENST00000542564.2_Missense_Mutation_p.A1490T	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1516					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						AGATGATGAAGCAGAACTTTC	0.294								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																							0													62	66	65					14																	45654450		2203	4293	6496	SO:0001583	missense	57697	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	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.4546G>A	chr14.hg19:g.45654450G>A	ENSP00000267430:p.Ala1516Thr		B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	hg19	CCDS32070.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.4|27.4	4.823629|4.823629	0.90873|0.90873	.|.	.|.	ENSG00000187790|ENSG00000187790	ENST00000267430;ENST00000542564;ENST00000556250|ENST00000554809	T;T;T|.	0.75704|.	-0.96;-0.96;-0.96|.	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	0.540042|.	0.20546|.	N|.	0.090204|.	D|D	0.82318|0.82318	0.5011|0.5011	M|M	0.83953|0.83953	2.67|2.67	0.45621|0.45621	D|D	0.998559|0.998559	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.83275|.	0.996;0.996|.	T|T	0.83003|0.83003	-0.0176|-0.0176	10|5	0.87932|.	D|.	0|.	.|.	18.5433|18.5433	0.91037|0.91037	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1490;1516|.	B2RTQ9;Q8IYD8|.	.;FANCM_HUMAN|.	T|N	1516;1490;1032|448	ENSP00000267430:A1516T;ENSP00000442493:A1490T;ENSP00000452033:A1032T|.	ENSP00000267430:A1516T|.	A|S	+|+	1|2	0|0	FANCM|FANCM	44724200|44724200	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.926000|0.926000	0.56050|0.56050	6.146000|6.146000	0.71777|0.71777	2.720000|2.720000	0.93068|0.93068	0.650000|0.650000	0.86243|0.86243	GCA|AGC		0.294	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		A	45654450	G	A	45654450	3	1	805	1	0	0	0	0	1	0	0	0	5673	971	34	2	4616	2	FANCM	14	45654450	Missense_Mutation	SNP	G	TCGA-UZ-A9PR-01A-11D-A42J-10	20873543	45654450	61695090	70	48081											
RDH12	145226	hgsc.bcm.edu	37	14	68191956	68191956	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr14:68191956G>A	ENST00000551171.1	+	5	652	c.328G>A	c.(328-330)Gag>Aag	p.E110K	RDH12_ENST00000267502.3_Missense_Mutation_p.E110K|RDH12_ENST00000539142.1_Missense_Mutation_p.E110K	NM_152443.2	NP_689656.2	Q96NR8	RDH12_HUMAN	retinol dehydrogenase 12 (all-trans/9-cis/11-cis)	110					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)	AGCCTTTGCTGAGGGCTTTCT	0.527																																																0													81	77	78					14																	68191956		2203	4300	6503	SO:0001583	missense	145226			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.328G>A	chr14.hg19:g.68191956G>A	ENSP00000449079:p.Glu110Lys		B2RDA2|Q8TAW6	Missense_Mutation	SNP	ENST00000551171.1	hg19	CCDS9787.1	.	.	.	.	.	.	.	.	.	.	G	11.76	1.736183	0.30774	.	.	ENSG00000139988	ENST00000551171;ENST00000267502;ENST00000539142	D;D;D	0.89875	-2.58;-2.58;-2.58	5.52	5.52	0.82312	NAD(P)-binding domain (1);	0.230531	0.45867	D	0.000327	T	0.81187	0.4770	N	0.21448	0.665	0.35066	D	0.762009	B	0.14805	0.011	B	0.26864	0.074	T	0.76735	-0.2850	10	0.11794	T	0.64	.	13.1381	0.59421	0.0755:0.0:0.9245:0.0	.	110	Q96NR8	RDH12_HUMAN	K	110	ENSP00000449079:E110K;ENSP00000267502:E110K;ENSP00000438715:E110K	ENSP00000267502:E110K	E	+	1	0	RDH12	67261709	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	2.700000	0.47085	2.873000	0.98535	0.563000	0.77884	GAG		0.527	RDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406918.1			A	68191956	G	A	68191956	3	1	805	1	0	0	0	0	1	0	0	0	13197	1291	45	2	338	2	RDH12	14	68191956	Missense_Mutation	SNP	G	TCGA-UZ-A9PR-01A-11D-A42J-10	22537506	68191956	39157584	71	48082											
PCNX	22990	hgsc.bcm.edu	37	14	71568714	71568714	+	Missense_Mutation	SNP	T	T	A			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr14:71568714T>A	ENST00000304743.2	+	31	6043	c.5597T>A	c.(5596-5598)tTt>tAt	p.F1866Y	PCNX_ENST00000556272.1_3'UTR|PCNX_ENST00000439984.3_Missense_Mutation_p.F1755Y|PCNX_ENST00000238570.5_Missense_Mutation_p.F1794Y	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1866						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)		TAGGATCATTTTACTTCTCCA	0.333																																																0													48	48	48					14																	71568714		2203	4300	6503	SO:0001583	missense	22990			AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"pecanex-like 1 (Drosophila)"	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.5597T>A	chr14.hg19:g.71568714T>A	ENSP00000304192:p.Phe1866Tyr		B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	hg19	CCDS9806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	27.7|27.7	4.852501|4.852501	0.91355|0.91355	.|.	.|.	ENSG00000100731|ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984|ENST00000554691	T;T;T|.	0.50813|.	0.73;0.73;0.73|.	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	0.043971|.	0.85682|.	D|.	0.000000|.	T|T	0.81716|0.81716	0.4881|0.4881	M|M	0.91196|0.91196	3.185|3.185	0.34571|0.34571	D|D	0.713417|0.713417	D;D;D|.	0.76494|.	0.989;0.999;0.999|.	D;D;D|.	0.91635|.	0.969;0.999;0.994|.	D|D	0.90107|0.90107	0.4189|0.4189	10|5	0.66056|.	D|.	0.02|.	.|.	15.598|15.598	0.76602|0.76602	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1794;1755;1866|.	Q96RV3-3;B2RTR6;Q96RV3|.	.;.;PCX1_HUMAN|.	Y|I	1866;1794;1755|853	ENSP00000304192:F1866Y;ENSP00000238570:F1794Y;ENSP00000396617:F1755Y|.	ENSP00000238570:F1794Y|.	F|L	+|+	2|1	0|2	PCNX|PCNX	70638467|70638467	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.967000|0.967000	0.64934|0.64934	7.655000|7.655000	0.83696|0.83696	2.094000|2.094000	0.63399|0.63399	0.533000|0.533000	0.62120|0.62120	TTT|TTA		0.333	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		A	71568714	T	A	71568714	3	1	805	1	0	0	0	0	1	0	0	0	11593	1841	64	5	5719	5	PCNX	14	71568714	Missense_Mutation	SNP	T	TCGA-UZ-A9PR-01A-11D-A42J-10	3376758	71568714	35780826	72	48083											
DDX24	57062	hgsc.bcm.edu	37	14	94528900	94528900	+	Silent	SNP	A	A	G			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr14:94528900A>G	ENST00000330836.5	-	3	917	c.786T>C	c.(784-786)aaT>aaC	p.N262N	DDX24_ENST00000555054.1_Silent_p.N219N|DDX24_ENST00000544005.1_Silent_p.N12N	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	262	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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)		GAGGGGCAGCATTCCTCTTCT	0.488																																																0													100	91	94					14																	94528900		2203	4300	6503	SO:0001819	synonymous_variant	57062			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.786T>C	chr14.hg19:g.94528900A>G			E7EMJ4|Q4V9L5	Silent	SNP	ENST00000330836.5	hg19	CCDS9918.1																																																																																				0.488	DDX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412861.1	NM_020414		G	94528900	A	G	94528900	2	3	805	1	0	0	0	0	0	0	0	1	4353	214	8	3		3	DDX24	14	94528900	Silent	SNP	A	TCGA-UZ-A9PR-01A-11D-A42J-10	22960186	94528900	12820640	73	48084											
SLC24A5	283652	hgsc.bcm.edu	37	15	48429007	48429007	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr15:48429007G>A	ENST00000341459.3	+	6	791	c.718G>A	c.(718-720)Gag>Aag	p.E240K	SLC24A5_ENST00000449382.2_Missense_Mutation_p.E180K	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	240					ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|negative regulation of melanin biosynthetic process (GO:0048022)|response to stimulus (GO:0050896)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		CAAAGCTATGGAGAGAAGTGA	0.388																																																0													76	74	75					15																	48429007		2198	4297	6495	SO:0001583	missense	283652			AF348468	CCDS10128.1	15q21.1	2014-01-28	2013-07-18		ENSG00000188467	ENSG00000188467		"Solute carriers"	20611	protein-coding gene	gene with protein product	"oculocutaneous albinism 6 (autosomal recessive)"	609802	"solute carrier family 24, member 5"			23364476	Standard	XM_005254308		Approved	JSX, OCA6	uc001zwe.3	Q71RS6	OTTHUMG00000131494	ENST00000341459.3:c.718G>A	chr15.hg19:g.48429007G>A	ENSP00000341550:p.Glu240Lys		A5X8Z8|A5X8Z9|Q14CT4|Q6DKH3	Missense_Mutation	SNP	ENST00000341459.3	hg19	CCDS10128.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.994782	0.54041	.	.	ENSG00000188467	ENST00000341459;ENST00000449382	T;T	0.75260	-0.92;-0.92	5.42	5.42	0.78866	.	0.417747	0.28021	N	0.016905	T	0.68677	0.3027	L	0.50333	1.59	0.32783	N	0.502204	P;B	0.35077	0.483;0.22	B;B	0.24974	0.057;0.039	T	0.75004	-0.3470	10	0.39692	T	0.17	.	19.5924	0.95520	0.0:0.0:1.0:0.0	.	180;240	A5X8Z9;Q71RS6	.;NCKX5_HUMAN	K	240;180	ENSP00000341550:E240K;ENSP00000389966:E180K	ENSP00000341550:E240K	E	+	1	0	SLC24A5	46216299	1.000000	0.71417	0.972000	0.41901	0.640000	0.38277	4.436000	0.59948	2.689000	0.91719	0.655000	0.94253	GAG		0.388	SLC24A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254340.2	NM_205850		A	48429007	G	A	48429007	3	1	805	1	0	0	0	0	1	0	0	0	14475	1175	41	2	740	2	SLC24A5	15	48429007	Missense_Mutation	SNP	G	TCGA-UZ-A9PR-01A-11D-A42J-10		48429007	54102385	74	48085											
ZNF609	23060	hgsc.bcm.edu	37	15	64972427	64972427	+	Silent	SNP	C	C	T			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr15:64972427C>T	ENST00000326648.3	+	6	3941	c.3813C>T	c.(3811-3813)agC>agT	p.S1271S		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	1271						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						CATATGGCAGCAAGGTCTCAG	0.517																																																0													102	94	97					15																	64972427		2202	4299	6501	SO:0001819	synonymous_variant	23060			BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"Zinc fingers, C2H2-type"	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.3813C>T	chr15.hg19:g.64972427C>T			Q0D2I2	Silent	SNP	ENST00000326648.3	hg19	CCDS32270.1																																																																																				0.517	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833		T	64972427	C	T	64972427	2	4	805	1	0	0	0	0	0	0	0	1	18040	709	25	2		2	ZNF609	15	64972427	Silent	SNP	C	TCGA-UZ-A9PR-01A-11D-A42J-10	16543420	64972427	37558965	75	48086											
MYO9A	4649	hgsc.bcm.edu	37	15	72175994	72175994	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr15:72175994G>A	ENST00000356056.5	-	28	5811	c.5339C>T	c.(5338-5340)tCa>tTa	p.S1780L	MYO9A_ENST00000444904.1_Missense_Mutation_p.S1761L|MYO9A_ENST00000564571.1_Missense_Mutation_p.S1780L|MYO9A_ENST00000424560.1_Missense_Mutation_p.S1851L	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1780	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						CGAAACCTCTGACTGGGTAGT	0.438																																																0													224	220	221					15																	72175994		2199	4297	6496	SO:0001583	missense	4649			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.5339C>T	chr15.hg19:g.72175994G>A	ENSP00000348349:p.Ser1780Leu		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	hg19	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	G	11.87	1.766171	0.31228	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	D;D;D	0.85339	-1.95;-1.97;-1.94	5.08	3.1	0.35709	.	.	.	.	.	D	0.89674	0.6783	M	0.64997	1.995	0.09310	N	0.999998	D;D	0.76494	0.999;0.999	D;D	0.72075	0.962;0.976	T	0.79888	-0.1613	9	0.41790	T	0.15	.	10.7053	0.45952	0.0728:0.1322:0.7949:0.0	.	1851;1780	B2RTY4-4;B2RTY4	.;MYO9A_HUMAN	L	1780;1851;1761	ENSP00000348349:S1780L;ENSP00000399162:S1851L;ENSP00000398250:S1761L	ENSP00000348349:S1780L	S	-	2	0	MYO9A	69963048	0.440000	0.25618	0.001000	0.08648	0.044000	0.14063	3.725000	0.54970	0.572000	0.29383	0.557000	0.71058	TCA		0.438	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		A	72175994	G	A	72175994	3	1	805	1	0	0	0	0	1	0	0	0	10086	1294	45	2	2367	2	MYO9A	15	72175994	Missense_Mutation	SNP	G	TCGA-UZ-A9PR-01A-11D-A42J-10	7203567	72175994	30355398	76	48087											
IQGAP1	8826	hgsc.bcm.edu	37	15	91017793	91017793	+	Silent	SNP	G	G	A			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr15:91017793G>A	ENST00000268182.5	+	23	2776	c.2652G>A	c.(2650-2652)caG>caA	p.Q884Q	IQGAP1_ENST00000560020.1_3'UTR|IQGAP1_ENST00000560738.1_Silent_p.Q312Q	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	884					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)			AGGATTTTCAGGAGGAGCTTG	0.453																																																0													102	91	94					15																	91017793		2198	4298	6496	SO:0001819	synonymous_variant	8826			D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"RasGAP-like with IQ motifs"	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.2652G>A	chr15.hg19:g.91017793G>A			A7MBM3	Silent	SNP	ENST00000268182.5	hg19	CCDS10362.1																																																																																				0.453	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870		A	91017793	G	A	91017793	2	1	805	1	0	0	0	0	0	0	0	1	7816	991	35	2		2	IQGAP1	15	91017793	Silent	SNP	G	TCGA-UZ-A9PR-01A-11D-A42J-10	18841799	91017793	11513599	77	48088											
ZKSCAN2	342357	hgsc.bcm.edu	37	16	25255502	25255502	+	Missense_Mutation	SNP	T	T	C			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr16:25255502T>C	ENST00000328086.7	-	6	2388	c.1585A>G	c.(1585-1587)Aaa>Gaa	p.K529E		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	529					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)		CCATACAATTTGCTCTTCCGA	0.512																																																0													68	68	68					16																	25255502		2197	4300	6497	SO:0001583	missense	342357			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.1585A>G	chr16.hg19:g.25255502T>C	ENSP00000331626:p.Lys529Glu		A1L3B4|Q6ZN77	Missense_Mutation	SNP	ENST00000328086.7	hg19	CCDS32410.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.168672	0.78339	.	.	ENSG00000155592	ENST00000328086;ENST00000536768	T	0.41065	1.01	5.48	4.31	0.51392	SANT domain, DNA binding (1);	0.088025	0.49305	D	0.000148	T	0.28034	0.0691	N	0.17474	0.49	0.31663	N	0.645383	P;P	0.45348	0.856;0.856	B;B	0.42462	0.388;0.388	T	0.36720	-0.9736	10	0.87932	D	0	-31.0046	9.086	0.36581	0.0:0.0:0.1848:0.8152	.	325;529	B4DYF0;Q63HK3	.;ZKSC2_HUMAN	E	529	ENSP00000331626:K529E	ENSP00000331626:K529E	K	-	1	0	ZKSCAN2	25163003	0.998000	0.40836	0.995000	0.50966	0.996000	0.88848	1.341000	0.33907	2.205000	0.71048	0.533000	0.62120	AAA		0.512	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	NM_001012981		C	25255502	T	C	25255502	3	2	805	1	0	0	0	0	1	0	0	0	17692	1821	63	3	1326	3	ZKSCAN2	16	25255502	Missense_Mutation	SNP	T	TCGA-UZ-A9PR-01A-11D-A42J-10		25255502	65099251	78	48089											
XPO6	23214	hgsc.bcm.edu	37	16	28164063	28164063	+	Missense_Mutation	SNP	C	C	A			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr16:28164063C>A	ENST00000304658.5	-	8	1641	c.1141G>T	c.(1141-1143)Gtt>Ttt	p.V381F	XPO6_ENST00000565698.1_Missense_Mutation_p.V367F|XPO6_ENST00000561488.1_5'Flank	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	381					protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						CTTAGGTGAACACTCACAAAG	0.408																																																0													79	71	73					16																	28164063		1860	4092	5952	SO:0001583	missense	23214			AY026388	CCDS42135.1, CCDS59266.1	16p11.2	2011-04-13	2003-03-11	2003-03-14		ENSG00000169180		"Exportins"	19733	protein-coding gene	gene with protein product		608411	"RAN binding protein 20"	RANBP20		14592989	Standard	NM_001270940		Approved	KIAA0370, FLJ22519	uc002dpa.2	Q96QU8		ENST00000304658.5:c.1141G>T	chr16.hg19:g.28164063C>A	ENSP00000302790:p.Val381Phe		A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Missense_Mutation	SNP	ENST00000304658.5	hg19	CCDS42135.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.515668	0.85389	.	.	ENSG00000169180	ENST00000304658	T	0.47177	0.85	5.91	5.91	0.95273	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.61602	0.2360	L	0.60455	1.87	0.80722	D	1	D;D	0.64830	0.978;0.994	P;P	0.56916	0.573;0.809	T	0.60727	-0.7206	10	0.54805	T	0.06	-12.4721	17.7923	0.88558	0.0:1.0:0.0:0.0	.	381;381	B7ZM10;Q96QU8	.;XPO6_HUMAN	F	381	ENSP00000302790:V381F	ENSP00000302790:V381F	V	-	1	0	XPO6	28071564	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.629000	0.83207	2.793000	0.96121	0.655000	0.94253	GTT		0.408	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433732.1	XM_055195		A	28164063	C	A	28164063	3	1	805	1	0	0	0	0	1	0	0	0	17453	478	17	4	2304	4	XPO6	16	28164063	Missense_Mutation	SNP	C	TCGA-UZ-A9PR-01A-11D-A42J-10	2908561	28164063	62190690	79	48090											
WDR81	124997	hgsc.bcm.edu	37	17	1628392	1628392	+	Missense_Mutation	SNP	C	C	T			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr17:1628392C>T	ENST00000409644.1	+	1	139	c.139C>T	c.(139-141)Ccg>Tcg	p.P47S	RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000437219.2_Intron|WDR81_ENST00000446363.1_Intron|WDR81_ENST00000309182.5_Intron|WDR81_ENST00000419248.1_Intron	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	47					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)		GCAGCTGGCTCCGGCCCCGGG	0.741																																																0													3	5	5					17																	1628392		625	1502	2127	SO:0001583	missense	124997			AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"WD repeat domain containing"	26600	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 166"	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.139C>T	chr17.hg19:g.1628392C>T	ENSP00000386609:p.Pro47Ser		B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Missense_Mutation	SNP	ENST00000409644.1	hg19	CCDS54062.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.894622	0.33442	.	.	ENSG00000167716	ENST00000409644	T	0.48522	0.81	5.73	1.3	0.21679	.	.	.	.	.	T	0.43787	0.1263	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	T	0.36065	-0.9763	6	0.49607	T	0.09	.	8.0818	0.30750	0.1074:0.3321:0.4923:0.0682	.	.	.	.	S	47	ENSP00000386609:P47S	ENSP00000386609:P47S	P	+	1	0	WDR81	1575142	0.000000	0.05858	0.041000	0.18516	0.942000	0.58702	0.243000	0.18106	0.304000	0.22809	0.650000	0.86243	CCG		0.741	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333118.2	NM_152348		T	1628392	C	T	1628392	3	4	805	1	0	0	0	0	1	0	0	0	17335	855	30	2	203	2	WDR81	17	1628392	Missense_Mutation	SNP	C	TCGA-UZ-A9PR-01A-11D-A42J-10		1628392	79566818	80	48091											
KIAA0664	23277	hgsc.bcm.edu	37	17	2598316	2598316	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr17:2598316G>A	ENST00000570628.2	-	16	2675	c.2570C>T	c.(2569-2571)gCc>gTc	p.A857V	CLUH_ENST00000538975.1_Missense_Mutation_p.A857V|CLUH_ENST00000435359.1_Missense_Mutation_p.A857V			O75153	CLU_HUMAN	clustered mitochondria (cluA/CLU1) homolog	857					intracellular distribution of mitochondria (GO:0048312)	cytoplasm (GO:0005737)											GGGCAGGTGGGCCACGGGGTT	0.637																																																0													36	44	41					17																	2598316		1974	4160	6134	SO:0001583	missense	23277			AB014564	CCDS45572.1	17p13.3	2012-12-18	2012-11-30	2012-11-30	ENSG00000132361	ENSG00000132361			29094	protein-coding gene	gene with protein product			"KIAA0664"	KIAA0664			Standard	XM_005256567		Approved	CLU1	uc002fuy.1	O75153	OTTHUMG00000177575	ENST00000570628.2:c.2570C>T	chr17.hg19:g.2598316G>A	ENSP00000458986:p.Ala857Val		Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979	Missense_Mutation	SNP	ENST00000570628.2	hg19	CCDS45572.1	.	.	.	.	.	.	.	.	.	.	g	20.9	4.065557	0.76187	.	.	ENSG00000132361	ENST00000435359;ENST00000322335;ENST00000538975	D;D	0.81499	-1.5;-1.5	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.75598	0.3871	L	0.38838	1.175	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.12837	0.008;0.008	T	0.69472	-0.5136	10	0.46703	T	0.11	.	18.6994	0.91615	0.0:0.0:1.0:0.0	.	857;858	O75153;C9J6D7	K0664_HUMAN;.	V	857;858;857	ENSP00000388872:A857V;ENSP00000439628:A857V	ENSP00000320468:A858V	A	-	2	0	KIAA0664	2545066	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	9.472000	0.97709	2.663000	0.90544	0.556000	0.70494	GCC		0.637	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437807.2	NM_015229		A	2598316	G	A	2598316	3	1	805	1	0	0	0	0	1	0	0	0	8191	1203	42	2	1403	2	KIAA0664	17	2598316	Missense_Mutation	SNP	G	TCGA-UZ-A9PR-01A-11D-A42J-10	969924	2598316	78596894	81	48092											
NOS2	4843	hgsc.bcm.edu	37	17	26096089	26096089	+	Missense_Mutation	SNP	C	C	G			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr17:26096089C>G	ENST00000313735.6	-	17	2181	c.1948G>C	c.(1948-1950)Gcc>Ccc	p.A650P		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	650	Flavodoxin-like. {ECO:0000255|PROSITE- ProRule:PRU00088}.				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)	AGCTGAGAGGCCCCCAGGTGG	0.622																																																0													38	37	37					17																	26096089		2203	4299	6502	SO:0001583	missense	4843			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.1948G>C	chr17.hg19:g.26096089C>G	ENSP00000327251:p.Ala650Pro		A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Missense_Mutation	SNP	ENST00000313735.6	hg19	CCDS11223.1	.	.	.	.	.	.	.	.	.	.	C	32	5.113167	0.94339	.	.	ENSG00000007171	ENST00000313735;ENST00000379105;ENST00000302153	T	0.68624	-0.34	5.16	5.16	0.70880	Flavodoxin/nitric oxide synthase (2);	0.000000	0.85682	D	0.000000	D	0.89262	0.6665	H	0.98370	4.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.93452	0.6803	10	0.72032	D	0.01	.	17.6452	0.88146	0.0:1.0:0.0:0.0	.	615;650	F8WEM3;P35228	.;NOS2_HUMAN	P	650;611;615	ENSP00000327251:A650P	ENSP00000305638:A615P	A	-	1	0	NOS2	23120216	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.818000	0.86416	2.397000	0.81536	0.462000	0.41574	GCC		0.622	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	NM_000625		G	26096089	C	G	26096089	3	3	805	1	0	0	0	0	1	0	0	0	10545	739	26	4	1557	4	NOS2	17	26096089	Missense_Mutation	SNP	C	TCGA-UZ-A9PR-01A-11D-A42J-10	23497773	26096089	55099121	82	48093											
PEX12	5193	hgsc.bcm.edu	37	17	33903054	33903054	+	Missense_Mutation	SNP	A	A	G			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr17:33903054A>G	ENST00000225873.4	-	3	1434	c.827T>C	c.(826-828)tTg>tCg	p.L276S	SNORD7_ENST00000384567.1_RNA|RP11-1094M14.11_ENST00000592381.1_lincRNA	NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12	276					peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	integral component of peroxisomal membrane (GO:0005779)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CAGGGCAGTCAATGACTTGAT	0.468																																																0													200	161	174					17																	33903054		2203	4300	6503	SO:0001583	missense	5193			U91521	CCDS11296.1	17q21.1	2011-02-10			ENSG00000108733	ENSG00000108733			8854	protein-coding gene	gene with protein product		601758				9090384	Standard	NM_000286		Approved		uc002hjp.3	O00623	OTTHUMG00000132951	ENST00000225873.4:c.827T>C	chr17.hg19:g.33903054A>G	ENSP00000225873:p.Leu276Ser		B2R6M2	Missense_Mutation	SNP	ENST00000225873.4	hg19	CCDS11296.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.008782	0.75046	.	.	ENSG00000108733	ENST00000424525;ENST00000225873	D	0.84800	-1.9	5.04	5.04	0.67666	.	0.071674	0.56097	D	0.000026	D	0.84906	0.5576	M	0.67953	2.075	0.47094	D	0.99931	D	0.54601	0.967	P	0.47573	0.55	T	0.82641	-0.0357	10	0.15066	T	0.55	-9.1479	14.1306	0.65250	1.0:0.0:0.0:0.0	.	276	O00623	PEX12_HUMAN	S	276	ENSP00000225873:L276S	ENSP00000225873:L276S	L	-	2	0	PEX12	30927167	1.000000	0.71417	0.010000	0.14722	0.982000	0.71751	8.533000	0.90617	2.114000	0.64651	0.533000	0.62120	TTG		0.468	PEX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256489.2	NM_000286		G	33903054	A	G	33903054	3	3	805	1	0	0	0	0	1	0	0	0	11742	131	5	3	256	3	PEX12	17	33903054	Missense_Mutation	SNP	A	TCGA-UZ-A9PR-01A-11D-A42J-10	7806965	33903054	47292156	83	48094											
KRT13	3860	hgsc.bcm.edu	37	17	39659323	39659323	+	Frame_Shift_Del	DEL	C	C	-			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr17:39659323delC	ENST00000246635.3	-	4	809	c.763delG	c.(763-765)gtcfs	p.V255fs	KRT13_ENST00000587544.1_Frame_Shift_Del_p.V255fs|AC019349.5_ENST00000411759.1_RNA|KRT13_ENST00000336861.3_Frame_Shift_Del_p.V255fs|KRT13_ENST00000587118.1_5'Flank	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	255	Linker 12.|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)				ACCTGGCCGACCACCTGGTTG	0.577																																																0													205	199	201					17																	39659323		2203	4300	6503	SO:0001589	frameshift_variant	3860				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.763delG	chr17.hg19:g.39659323delC	ENSP00000246635:p.Val255fs		Q53G54|Q6AZK5|Q8N240	Frame_Shift_Del	DEL	ENST00000246635.3	hg19	CCDS11396.1																																																																																				0.577	KRT13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257297.1	NM_153490		-	39659323	C	-	39659323	7	5	805	1	0	1	0	1	0	0	0	0	8452	507	18	0	633	0	KRT13	17	39659323	Frame_Shift_Del	DEL	C	TCGA-UZ-A9PR-01A-11D-A42J-10	5756269	39659323	41535887	84	48095											
MED13	9969	hgsc.bcm.edu	37	17	60043908	60043908	+	Silent	SNP	T	T	A			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr17:60043908T>A	ENST00000397786.2	-	19	4372	c.4296A>T	c.(4294-4296)gcA>gcT	p.A1432A		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1432					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						AAAACCATTCTGCTACCAACT	0.393																																																0													153	137	142					17																	60043908		1872	4114	5986	SO:0001819	synonymous_variant	9969			AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"thyroid hormone receptor associated protein 1"	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.4296A>T	chr17.hg19:g.60043908T>A			B2RU05|O60334	Silent	SNP	ENST00000397786.2	hg19	CCDS42366.1																																																																																				0.393	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		A	60043908	T	A	60043908	2	1	805	1	0	0	0	0	0	0	0	1	9432	1567	55	5		5	MED13	17	60043908	Silent	SNP	T	TCGA-UZ-A9PR-01A-11D-A42J-10	20384585	60043908	21151302	85	48096											
LAMA3	3909	hgsc.bcm.edu	37	18	21523876	21523876	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr18:21523876G>A	ENST00000313654.9	+	69	9392	c.9151G>A	c.(9151-9153)Gat>Aat	p.D3051N	LAMA3_ENST00000399516.3_Missense_Mutation_p.D2995N|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000269217.6_Missense_Mutation_p.D1442N|LAMA3_ENST00000587184.1_Missense_Mutation_p.D1386N	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	3051	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					ACTGGGGACAGATGGGAAAAA	0.473																																																0													104	94	98					18																	21523876		2203	4300	6503	SO:0001583	missense	3909			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"Laminins"	6483	protein-coding gene	gene with protein product		600805	"laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.9151G>A	chr18.hg19:g.21523876G>A	ENSP00000324532:p.Asp3051Asn		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	hg19	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	7.994	0.753846	0.15778	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.63096	-0.02;-0.02;-0.02	5.23	3.46	0.39613	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.58466	0.2124	L	0.53249	1.67	0.09310	N	1	B;P;P;P	0.36392	0.285;0.551;0.525;0.525	B;B;B;B	0.40285	0.131;0.325;0.245;0.245	T	0.47420	-0.9119	9	0.34782	T	0.22	.	9.2006	0.37256	0.2181:0.0:0.7819:0.0	.	1386;1442;2995;3051	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	N	3051;2995;1442	ENSP00000324532:D3051N;ENSP00000382432:D2995N;ENSP00000269217:D1442N	ENSP00000269217:D1442N	D	+	1	0	LAMA3	19777874	0.944000	0.32072	0.003000	0.11579	0.061000	0.15899	3.534000	0.53568	0.793000	0.33875	-0.793000	0.03317	GAT		0.473	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		A	21523876	G	A	21523876	3	1	805	1	0	0	0	0	1	0	0	0	8609	942	33	2	9600	2	LAMA3	18	21523876	Missense_Mutation	SNP	G	TCGA-UZ-A9PR-01A-11D-A42J-10		21523876	56553372	86	48097											
HDHD2	84064	hgsc.bcm.edu	37	18	44635149	44635149	+	Nonsense_Mutation	SNP	A	A	C			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr18:44635149A>C	ENST00000300605.6	-	7	836	c.684T>G	c.(682-684)taT>taG	p.Y228*	RP11-49K24.8_ENST00000591183.1_RNA|HDHD2_ENST00000587841.1_5'UTR	NM_032124.4	NP_115500.1	Q9H0R4	HDHD2_HUMAN	haloacid dehalogenase-like hydrolase domain containing 2	228						extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			kidney(2)|large_intestine(2)|lung(1)|skin(1)	6						CTGATGCTCGATATTTCCCTG	0.443																																																0													151	129	136					18																	44635149		2203	4300	6503	SO:0001587	stop_gained	84064			AL136681	CCDS32829.1	18q21.1	2008-02-05				ENSG00000167220			25364	protein-coding gene	gene with protein product						11230166	Standard	NM_032124		Approved	DKFZP564D1378	uc002lcs.3	Q9H0R4		ENST00000300605.6:c.684T>G	chr18.hg19:g.44635149A>C	ENSP00000300605:p.Tyr228*		A8K7T3|Q96NV4	Nonsense_Mutation	SNP	ENST00000300605.6	hg19	CCDS32829.1	.	.	.	.	.	.	.	.	.	.	A	7.137	0.581046	0.13686	.	.	ENSG00000167220	ENST00000300605	.	.	.	5.93	-8.84	0.00803	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-21.4898	20.0742	0.97736	0.7148:0.0:0.2852:0.0	.	.	.	.	X	228	.	ENSP00000300605:Y228X	Y	-	3	2	HDHD2	42889147	0.067000	0.21026	0.202000	0.23494	0.198000	0.23893	-0.733000	0.04898	-1.956000	0.01022	-1.934000	0.00508	TAT		0.443	HDHD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450668.2	NM_032124		C	44635149	A	C	44635149	4	2	805	1	0	0	0	0	0	1	0	0	7025	340	12	5	99	5	HDHD2	18	44635149	Nonsense_Mutation	SNP	A	TCGA-UZ-A9PR-01A-11D-A42J-10	23111273	44635149	33442099	87	48098											
TMEM147	10430	hgsc.bcm.edu	37	19	36037600	36037600	+	Silent	SNP	G	G	T			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr19:36037600G>T	ENST00000222284.5	+	4	379	c.234G>T	c.(232-234)gtG>gtT	p.V78V	AD000090.2_ENST00000590717.1_RNA|TMEM147_ENST00000392205.1_Silent_p.V78V|AD000090.2_ENST00000589137.1_RNA|TMEM147_ENST00000392204.2_Silent_p.V29V|AD000090.2_ENST00000444728.1_RNA|AD000090.2_ENST00000588286.1_RNA	NM_032635.3	NP_116024.1	Q9BVK8	TM147_HUMAN	transmembrane protein 147	78						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6	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)			GCGTGGATGTGGCAGACCTGA	0.572																																																0													119	106	111					19																	36037600		2203	4300	6503	SO:0001819	synonymous_variant	10430			BC001118	CCDS12466.1, CCDS56091.1	19q13.12	2010-08-13			ENSG00000105677	ENSG00000105677			30414	protein-coding gene	gene with protein product		613585				20538592	Standard	NM_032635		Approved	NIFIE14, MGC1936	uc002oaj.2	Q9BVK8	OTTHUMG00000048105	ENST00000222284.5:c.234G>T	chr19.hg19:g.36037600G>T			A8MWW0|O75790	Silent	SNP	ENST00000222284.5	hg19	CCDS12466.1																																																																																				0.572	TMEM147-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109469.2	NM_032635		T	36037600	G	T	36037600	2	4	805	1	0	0	0	0	0	0	0	1	16066	1335	47	4		4	TMEM147	19	36037600	Silent	SNP	G	TCGA-UZ-A9PR-01A-11D-A42J-10		36037600	23091383	88	48099			1	133		2	2	12	N	TA_G	3.695413e-05
TMEM147	10430	hgsc.bcm.edu	37	19	36037611	36037612	+	Missense_Mutation	DNP	TA	TA	AT			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	T|A	T|A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr19:36037611_36037612TA>AT	ENST00000222284.5	+	4	390_391	c.245_246TA>AT	c.(244-246)aTA>aAT	p.I82N	AD000090.2_ENST00000590717.1_RNA|TMEM147_ENST00000392205.1_Missense_Mutation_p.I82N|AD000090.2_ENST00000589137.1_RNA|TMEM147_ENST00000392204.2_Missense_Mutation_p.I33N|AD000090.2_ENST00000444728.1_RNA|AD000090.2_ENST00000588286.1_RNA	NM_032635.3	NP_116024.1	Q9BVK8	TM147_HUMAN	transmembrane protein 147	82						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6	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)			GCAGACCTGATAGGTCTAAACC	0.569																																																0																																										SO:0001583	missense	10430			BC001118	CCDS12466.1, CCDS56091.1	19q13.12	2010-08-13			ENSG00000105677	ENSG00000105677			30414	protein-coding gene	gene with protein product		613585				20538592	Standard	NM_032635		Approved	NIFIE14, MGC1936	uc002oaj.2	Q9BVK8	OTTHUMG00000048105	Exception_encountered	chr19.hg19:g.36037611_36037612delinsAT	ENSP00000222284:p.Ile82Asn		A8MWW0|O75790	Missense_Mutation|Silent	SNP	ENST00000222284.5	hg19	CCDS12466.1																																																																																				0.569	TMEM147-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109469.2	NM_032635		AT	36037612	TA	AT	36037611	3	1	805	1	0	0	0	0	1	0	0	0	16066	1406	49	5	259	5	TMEM147	19	36037611	Missense_Mutation	DNP	TA	TCGA-UZ-A9PR-01A-11D-A42J-10	11	36037611	23091372	89	48100			1	133		2	2	12	N	TA_G	3.695413e-05
TSKS	60385	hgsc.bcm.edu	37	19	50243159	50243159	+	Missense_Mutation	SNP	G	G	T			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr19:50243159G>T	ENST00000246801.3	-	11	1735	c.1653C>A	c.(1651-1653)caC>caA	p.H551Q	TSKS_ENST00000358830.3_Missense_Mutation_p.H351Q	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	551					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)		ACATCTTCAAGTGTAGATGGT	0.592																																																0													102	93	96					19																	50243159		2203	4300	6503	SO:0001583	missense	60385			BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 161"	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.1653C>A	chr19.hg19:g.50243159G>T	ENSP00000246801:p.His551Gln		Q8WXJ0	Missense_Mutation	SNP	ENST00000246801.3	hg19	CCDS12780.1	.	.	.	.	.	.	.	.	.	.	G	8.131	0.783184	0.16189	.	.	ENSG00000126467	ENST00000246801;ENST00000358830	T;T	0.29397	1.57;1.57	5.44	0.262	0.15597	.	0.000000	0.49916	D	0.000129	T	0.34687	0.0906	N	0.24115	0.695	0.24288	N	0.995176	D	0.69078	0.997	D	0.78314	0.991	T	0.16335	-1.0406	10	0.66056	D	0.02	-21.087	8.6712	0.34152	0.4246:0.0:0.5754:0.0	.	551	Q9UJT2	TSKS_HUMAN	Q	551;351	ENSP00000246801:H551Q;ENSP00000351691:H351Q	ENSP00000246801:H551Q	H	-	3	2	TSKS	54934971	0.983000	0.35010	0.349000	0.25694	0.037000	0.13140	0.292000	0.19011	-0.097000	0.12307	-0.921000	0.02739	CAC		0.592	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1	NM_021733		T	50243159	G	T	50243159	3	4	805	1	0	0	0	0	1	0	0	0	16631	1020	36	4	129	4	TSKS	19	50243159	Missense_Mutation	SNP	G	TCGA-UZ-A9PR-01A-11D-A42J-10	14205548	50243159	8885824	90	48101											
SIGLEC11	114132	hgsc.bcm.edu	37	19	50461600	50461600	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr19:50461600G>A	ENST00000447370.2	-	8	1681	c.1591C>T	c.(1591-1593)Cgc>Tgc	p.R531C	SIGLEC11_ENST00000426971.2_Intron|CTC-326K19.6_ENST00000451973.1_Missense_Mutation_p.R17C	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	531					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			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)		GCCTTACAGCGGAGCCTGAGG	0.667																																																0													34	40	38					19																	50461600		2203	4300	6503	SO:0001583	missense	114132			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.1591C>T	chr19.hg19:g.50461600G>A	ENSP00000412361:p.Arg531Cys			Missense_Mutation	SNP	ENST00000447370.2	hg19	CCDS12790.2	.	.	.	.	.	.	.	.	.	.	T	19.39	3.819248	0.71028	.	.	ENSG00000161640	ENST00000447370	D	0.86769	-2.17	3.0	0.352	0.16051	.	0.523323	0.19200	N	0.120203	D	0.85788	0.5778	L	0.42245	1.32	0.23966	N	0.996325	D	0.62365	0.991	P	0.54706	0.759	T	0.77835	-0.2440	10	0.66056	D	0.02	.	8.643	0.33989	0.0:0.0:0.6364:0.3636	.	531	Q96RL6	SIG11_HUMAN	C	531	ENSP00000412361:R531C	ENSP00000412361:R531C	R	-	1	0	SIGLEC11	55153412	0.000000	0.05858	0.287000	0.24848	0.128000	0.20619	-1.909000	0.01586	-0.055000	0.13244	-0.371000	0.07208	CGC		0.667	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347382.1	NM_052884		A	50461600	G	A	50461600	3	1	805	1	0	0	0	0	1	0	0	0	14313	1116	39	1	521	1	SIGLEC11	19	50461600	Missense_Mutation	SNP	G	TCGA-UZ-A9PR-01A-11D-A42J-10	218441	50461600	8667383	91	48102											
PLCB1	23236	hgsc.bcm.edu	37	20	8626784	8626784	+	Silent	SNP	C	C	T			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr20:8626784C>T	ENST00000338037.6	+	5	447	c.420C>T	c.(418-420)aaC>aaT	p.N140N	PLCB1_ENST00000378637.2_Silent_p.N140N|PLCB1_ENST00000378641.3_Silent_p.N140N	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	140					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						TGGCAACAAACCTGCTGGCCC	0.388																																																0													130	124	126					20																	8626784		2203	4300	6503	SO:0001819	synonymous_variant	23236			AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.420C>T	chr20.hg19:g.8626784C>T			D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	hg19	CCDS13102.1																																																																																				0.388	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			T	8626784	C	T	8626784	2	4	805	1	0	0	0	0	0	0	0	1	12029	506	18	2		2	PLCB1	20	8626784	Silent	SNP	C	TCGA-UZ-A9PR-01A-11D-A42J-10		8626784	54398736	92	48103											
C20orf3	57136	hgsc.bcm.edu	37	20	24964632	24964632	+	Missense_Mutation	SNP	C	C	T			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr20:24964632C>T	ENST00000217456.2	-	2	409	c.119G>A	c.(118-120)cGa>cAa	p.R40Q	APMAP_ENST00000447138.1_Missense_Mutation_p.R40Q	NM_020531.2	NP_065392.1	Q9HDC9	APMAP_HUMAN	adipocyte plasma membrane associated protein	40					biosynthetic process (GO:0009058)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	arylesterase activity (GO:0004064)|strictosidine synthase activity (GO:0016844)										GAAGGTCACTCGGAAAACTCT	0.517																																																0													76	77	77					20																	24964632		2203	4300	6503	SO:0001583	missense	57136			AB033767	CCDS13166.1	20p11.2	2012-07-20	2012-07-20	2012-07-20	ENSG00000101474	ENSG00000101474			13238	protein-coding gene	gene with protein product		615884	"chromosome 20 open reading frame 3"	C20orf3		10945474, 11583587, 20552250	Standard	NM_020531		Approved	BSCv	uc002wty.3	Q9HDC9	OTTHUMG00000032107	ENST00000217456.2:c.119G>A	chr20.hg19:g.24964632C>T	ENSP00000217456:p.Arg40Gln		A8K514|B4DXG1|Q6UVZ8|Q9GZS8|Q9NUB2	Missense_Mutation	SNP	ENST00000217456.2	hg19	CCDS13166.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.80|14.80	2.642456|2.642456	0.47153|0.47153	.|.	.|.	ENSG00000101474|ENSG00000101474	ENST00000451442|ENST00000217456;ENST00000447138	.|T;T	.|0.29397	.|2.0;1.57	6.08|6.08	3.82|3.82	0.43975|0.43975	.|.	.|0.284309	.|0.34652	.|N	.|0.003795	T|T	0.19846|0.19846	0.0477|0.0477	L|L	0.28740|0.28740	0.885|0.885	0.42535|0.42535	D|D	0.993057|0.993057	.|B;B;B	.|0.15473	.|0.013;0.007;0.004	.|B;B;B	.|0.10450	.|0.005;0.002;0.001	T|T	0.06356|0.06356	-1.0831|-1.0831	5|10	.|0.27785	.|T	.|0.31	-3.365|-3.365	7.9026|7.9026	0.29744|0.29744	0.1637:0.7461:0.0:0.0902|0.1637:0.7461:0.0:0.0902	.|.	.|40;24;40	.|Q9HDC9-2;A2A2F9;Q9HDC9	.|.;.;APMAP_HUMAN	K|Q	25|40	.|ENSP00000217456:R40Q;ENSP00000415373:R40Q	.|ENSP00000217456:R40Q	E|R	-|-	1|2	0|0	C20orf3|C20orf3	24912632|24912632	0.956000|0.956000	0.32656|0.32656	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	1.986000|1.986000	0.40677|0.40677	1.568000|1.568000	0.49683|0.49683	0.655000|0.655000	0.94253|0.94253	GAG|CGA		0.517	APMAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078380.2	NM_020531		T	24964632	C	T	24964632	3	4	805	1	0	0	0	0	1	0	0	0	2111	884	31	1	1163	1	C20orf3	20	24964632	Missense_Mutation	SNP	C	TCGA-UZ-A9PR-01A-11D-A42J-10	16337848	24964632	38060888	93	48104											
WFDC6	140870	hgsc.bcm.edu	37	20	44163124	44163139	+	Frame_Shift_Del	DEL	ATGGTATAAAGTAAGG	ATGGTATAAAGTAAGG	-	rs181120845		TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	ATGGTATAAAGTAAGG	ATGGTATAAAGTAAGG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr20:44163124_44163139delATGGTATAAAGTAAGG	ENST00000372670.3	-	3	315_330	c.228_243delCCTTACTTTATACCAT	c.(226-243)agccttactttataccatfs	p.SLTLYH76fs	WFDC6_ENST00000600168.1_Frame_Shift_Del_p.ALLYTI134fs	NM_080827.1	NP_543017.1	Q9BQY6	WFDC6_HUMAN	WAP four-disulfide core domain 6	76	BPTI/Kunitz inhibitor. {ECO:0000255|PROSITE-ProRule:PRU00031}.					extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|kidney(1)|large_intestine(2)|lung(2)	6		Myeloproliferative disorder(115;0.0122)				GCTCCTCCTTATGGTATAAAGTAAGGCTGACCTGTG	0.477																																					Ovarian(123;591 1661 9833 14622 45877)											0																																										SO:0001589	frameshift_variant	140870			AL031663	CCDS13358.1	20q13.11	2013-01-21	2003-02-21	2003-02-21	ENSG00000243543	ENSG00000243543		"WAP four-disulfide core domain containing"	16164	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 171"	C20orf171		12206714	Standard	NM_080827		Approved	dJ461P17.11, WAP6		Q9BQY6	OTTHUMG00000046354	ENST00000372670.3:c.228_243delCCTTACTTTATACCAT	chr20.hg19:g.44163124_44163139delATGGTATAAAGTAAGG	ENSP00000361755:p.Ser76fs		Q3MJ23|Q5JYQ4|Q8NFV6	Frame_Shift_Del	DEL	ENST00000372670.3	hg19	CCDS13358.1																																																																																				0.477	WFDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000107008.2			-	44163139	ATGGTATAAAGTAAGG	-	44163124	7	5	805	1	0	1	0	1	0	0	0	0	17360	446	16	0	21	0	WFDC6	20	44163124	Frame_Shift_Del	DEL	ATGGTATAAAGTAAGG	TCGA-UZ-A9PR-01A-11D-A42J-10	19198492	44163124	18862396	94	48105											
TMPRSS15	5651	hgsc.bcm.edu	37	21	19701538	19701538	+	Silent	SNP	A	A	G			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr21:19701538A>G	ENST00000284885.3	-	15	1761	c.1728T>C	c.(1726-1728)atT>atC	p.I576I		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	576	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CTACATCGTTAATATTTTCTA	0.294																																																0													86	84	84					21																	19701538		2203	4297	6500	SO:0001819	synonymous_variant	5651				CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"Serine peptidases / Transmembrane"	9490	protein-coding gene	gene with protein product	"proenterokinase", "enteropeptidase"	606635	"protease, serine, 7 (enterokinase)"	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.1728T>C	chr21.hg19:g.19701538A>G			Q2NKL7	Silent	SNP	ENST00000284885.3	hg19	CCDS13571.1																																																																																				0.294	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		G	19701538	A	G	19701538	2	3	805	1	0	0	0	0	0	0	0	1	16251	358	13	3		3	TMPRSS15	21	19701538	Silent	SNP	A	TCGA-UZ-A9PR-01A-11D-A42J-10		19701538	28428357	95	48106											
TMPRSS15	5651	hgsc.bcm.edu	37	21	19701570	19701570	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr21:19701570G>A	ENST00000284885.3	-	15	1729	c.1696C>T	c.(1696-1698)Ctt>Ttt	p.L566F		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	566	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TGAAAATGAAGTTGTATATTC	0.308																																																0													70	68	69					21																	19701570		2202	4297	6499	SO:0001583	missense	5651				CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"Serine peptidases / Transmembrane"	9490	protein-coding gene	gene with protein product	"proenterokinase", "enteropeptidase"	606635	"protease, serine, 7 (enterokinase)"	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.1696C>T	chr21.hg19:g.19701570G>A	ENSP00000284885:p.Leu566Phe		Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	hg19	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.541595	0.65085	.	.	ENSG00000154646	ENST00000284885	T	0.33865	1.39	5.4	4.49	0.54785	CUB (5);	0.000000	0.64402	D	0.000002	T	0.65270	0.2675	M	0.88031	2.925	0.45227	D	0.998237	D	0.89917	1.0	D	0.97110	1.0	T	0.72411	-0.4302	9	.	.	.	.	14.0641	0.64817	0.0:0.1523:0.8477:0.0	.	566	P98073	ENTK_HUMAN	F	566	ENSP00000284885:L566F	.	L	-	1	0	TMPRSS15	18623441	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	4.205000	0.58466	1.371000	0.46172	0.561000	0.74099	CTT		0.308	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		A	19701570	G	A	19701570	3	1	805	1	0	0	0	0	1	0	0	0	16251	1029	36	2	1407	2	TMPRSS15	21	19701570	Missense_Mutation	SNP	G	TCGA-UZ-A9PR-01A-11D-A42J-10	32	19701570	28428325	96	48107											
GART	2618	hgsc.bcm.edu	37	21	34901233	34901234	+	Missense_Mutation	DNP	TC	TC	AT	rs376223183		TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	T|C	T|C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr21:34901233_34901234TC>AT	ENST00000381831.3	-	8	996_997	c.733_734GA>AT	c.(733-735)GAt>ATt	p.D245I	GART_ENST00000381815.4_Missense_Mutation_p.D245I|GART_ENST00000361093.5_Missense_Mutation_p.D245I|GART_ENST00000381839.3_Missense_Mutation_p.D245I|GART_ENST00000497313.1_5'Flank	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	245	ATP-grasp.				'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|glycine metabolic process (GO:0006544)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|phosphoribosylamine-glycine ligase activity (GO:0004637)|phosphoribosylformylglycinamidine cyclo-ligase activity (GO:0004641)|phosphoribosylglycinamide formyltransferase activity (GO:0004644)			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	TAGTAATAGATCATTAGAAACC	0.396																																																0																																										SO:0001583	missense	2618			M32082	CCDS13627.1, CCDS13628.1	21q22.11	2012-10-02			ENSG00000159131	ENSG00000159131	2.1.2.2, 6.3.3.1, 6.3.4.13		4163	protein-coding gene	gene with protein product		138440		PRGS, PGFT		2050105	Standard	NM_001136005		Approved		uc002yrx.3	P22102	OTTHUMG00000065628	ENST00000381831.3:c.733_734delinsAT	chr21.hg19:g.34901233_34901234delinsAT	ENSP00000371253:p.Asp245Ile		A8K945|A8KA32|D3DSF3|D3DSF4|O14659|Q52M77	Missense_Mutation	SNP	ENST00000381831.3	hg19	CCDS13627.1																																																																																				0.396	GART-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140626.3	NM_000819		AT	34901234	TC	AT	34901233	3	1	805	1	0	0	0	0	1	0	0	0	6245	1435	50	5	2362	5	GART	21	34901233	Missense_Mutation	DNP	TC	TCGA-UZ-A9PR-01A-11D-A42J-10	15199663	34901233	13228662	97	48108											
COL6A2	1292	hgsc.bcm.edu	37	21	47538955	47538955	+	Silent	SNP	C	C	T			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr21:47538955C>T	ENST00000300527.4	+	14	1295	c.1191C>T	c.(1189-1191)ggC>ggT	p.G397G	COL6A2_ENST00000397763.1_Silent_p.G397G|COL6A2_ENST00000357838.4_Silent_p.G397G|COL6A2_ENST00000310645.5_Silent_p.G397G|COL6A2_ENST00000409416.1_Silent_p.G397G	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	397	Triple-helical region.				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)		GGTATCAAGGCAACAGTGGAG	0.662																																																0													47	42	44					21																	47538955		2201	4298	6499	SO:0001819	synonymous_variant	1292			M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"Collagens"	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.1191C>T	chr21.hg19:g.47538955C>T			Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Silent	SNP	ENST00000300527.4	hg19	CCDS13728.1																																																																																				0.662	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			T	47538955	C	T	47538955	2	4	805	1	0	0	0	0	0	0	0	1	3702	697	25	2		2	COL6A2	21	47538955	Silent	SNP	C	TCGA-UZ-A9PR-01A-11D-A42J-10	12637722	47538955	590940	98	48109											
DIP2A	23181	hgsc.bcm.edu	37	21	47917012	47917012	+	Missense_Mutation	SNP	C	C	T			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr21:47917012C>T	ENST00000417564.2	+	4	416	c.395C>T	c.(394-396)aCc>aTc	p.T132I	DIP2A_ENST00000427143.2_Missense_Mutation_p.T68I|DIP2A_ENST00000466639.1_Missense_Mutation_p.T132I|DIP2A_ENST00000435722.3_Missense_Mutation_p.T132I|DIP2A_ENST00000457905.3_Missense_Mutation_p.T132I|DIP2A_ENST00000318711.7_Missense_Mutation_p.T132I|DIP2A_ENST00000400274.1_Missense_Mutation_p.T132I			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	132					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)		GAAACCTACACCCCTCCAGGT	0.448																																																0													121	113	115					21																	47917012		1965	4139	6104	SO:0001583	missense	23181			AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"chromosome 21 open reading frame 106"	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.395C>T	chr21.hg19:g.47917012C>T	ENSP00000392066:p.Thr132Ile		A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Missense_Mutation	SNP	ENST00000417564.2	hg19	CCDS46655.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.383169	0.82792	.	.	ENSG00000160305	ENST00000400274;ENST00000427143;ENST00000318711;ENST00000358985;ENST00000457905;ENST00000466639;ENST00000435722;ENST00000417564	T;T;T;T;T;T;T	0.31247	1.77;1.77;1.8;1.74;1.5;1.74;1.8	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.59224	0.2178	M	0.80746	2.51	0.80722	D	1	P;P;D;P;D;D	0.89917	0.929;0.753;1.0;0.825;0.995;0.992	P;P;D;P;D;P	0.87578	0.821;0.456;0.998;0.739;0.959;0.908	T	0.57382	-0.7821	10	0.35671	T	0.21	-25.05	18.4623	0.90743	0.0:1.0:0.0:0.0	.	132;68;132;132;132;132	E9PER1;E7EMA5;Q14689-3;Q14689;Q14689-4;Q14689-2	.;.;.;DIP2A_HUMAN;.;.	I	132;68;132;132;132;132;132;132	ENSP00000383133:T132I;ENSP00000400528:T68I;ENSP00000323633:T132I;ENSP00000393434:T132I;ENSP00000430249:T132I;ENSP00000415089:T132I;ENSP00000392066:T132I	ENSP00000323633:T132I	T	+	2	0	DIP2A	46741440	1.000000	0.71417	0.847000	0.33407	0.992000	0.81027	7.680000	0.84062	2.595000	0.87683	0.655000	0.94253	ACC		0.448	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		T	47917012	C	T	47917012	3	4	805	1	0	0	0	0	1	0	0	0	4529	507	18	2	409	2	DIP2A	21	47917012	Missense_Mutation	SNP	C	TCGA-UZ-A9PR-01A-11D-A42J-10	378057	47917012	212883	99	48110											
PI4KA	5297	hgsc.bcm.edu	37	22	21153483	21153483	+	Missense_Mutation	SNP	C	C	A			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr22:21153483C>A	ENST00000572273.1	-	16	1958	c.1728G>T	c.(1726-1728)atG>atT	p.M576I	PI4KA_ENST00000255882.6_Missense_Mutation_p.M634I			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	576					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)			GAATGGGCTCCATGACCTTCG	0.562																																					GBM(136;1332 1831 3115 23601 50806)											0													90	78	82					22																	21153483		2203	4300	6503	SO:0001583	missense	5297			L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.1728G>T	chr22.hg19:g.21153483C>A	ENSP00000458238:p.Met576Ile		Q7Z625|Q9UPG2	Missense_Mutation	SNP	ENST00000572273.1	hg19		.	.	.	.	.	.	.	.	.	.	C	17.03	3.285111	0.59867	.	.	ENSG00000241973	ENST00000255882	.	.	.	4.55	4.55	0.56014	.	0.000000	0.85682	D	0.000000	T	0.58104	0.2099	L	0.54323	1.7	0.80722	D	1	B;B	0.24768	0.111;0.067	B;B	0.22601	0.025;0.04	T	0.55749	-0.8092	9	0.25751	T	0.34	-35.0254	17.4787	0.87667	0.0:1.0:0.0:0.0	.	634;576	D3DX33;P42356	.;PI4KA_HUMAN	I	576	.	ENSP00000255882:M576I	M	-	3	0	PI4KA	19483483	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	7.651000	0.83577	2.348000	0.79779	0.491000	0.48974	ATG		0.562	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		A	21153483	C	A	21153483	3	1	805	1	0	0	0	0	1	0	0	0	11875	594	21	4	4566	4	PI4KA	22	21153483	Missense_Mutation	SNP	C	TCGA-UZ-A9PR-01A-11D-A42J-10		21153483	30151083	100	48111											
C22orf43	51233	hgsc.bcm.edu	37	22	23964292	23964292	+	Missense_Mutation	SNP	C	C	A			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr22:23964292C>A	ENST00000317749.5	-	4	667	c.370G>T	c.(370-372)Gat>Tat	p.D124Y		NM_016449.3	NP_057533.2	Q6PGQ1	DRIC1_HUMAN		124	Asp-rich.									endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)	11						Gcatcatcatcatcatcatca	0.428																																																0													91	77	82					22																	23964292		1980	4156	6136	SO:0001583	missense	51233																														ENST00000317749.5:c.370G>T	chr22.hg19:g.23964292C>A	ENSP00000316137:p.Asp124Tyr		Q6ICJ8|Q6P4I3|Q9NU31	Missense_Mutation	SNP	ENST00000317749.5	hg19	CCDS42985.1	.	.	.	.	.	.	.	.	.	.	c	4.413	0.076434	0.08485	.	.	ENSG00000189269	ENST00000317749	T	0.40756	1.02	0.333	-0.666	0.11399	.	.	.	.	.	T	0.36690	0.0976	N	0.08118	0	0.09310	N	1	D	0.76494	0.999	D	0.72982	0.979	T	0.25710	-1.0124	8	0.87932	D	0	.	.	.	.	.	124	Q6PGQ1	CV043_HUMAN	Y	124	ENSP00000316137:D124Y	ENSP00000316137:D124Y	D	-	1	0	C22orf43	22294292	0.004000	0.15560	0.001000	0.08648	0.001000	0.01503	-0.994000	0.03716	-0.537000	0.06290	-0.524000	0.04348	GAT		0.428	C22orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319708.2			A	23964292	C	A	23964292	3	1	805	1	0	0	0	0	1	0	0	0	2152	826	29	4	355	4	C22orf43	22	23964292	Missense_Mutation	SNP	C	TCGA-UZ-A9PR-01A-11D-A42J-10	2810809	23964292	27340274	101	48112											
DRG1	4733	hgsc.bcm.edu	37	22	31816283	31816283	+	Silent	SNP	C	C	T			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr22:31816283C>T	ENST00000331457.4	+	5	615	c.454C>T	c.(454-456)Ctg>Ttg	p.L152L	DRG1_ENST00000433341.1_3'UTR	NM_004147.3	NP_004138.1	Q9Y295	DRG1_HUMAN	developmentally regulated GTP binding protein 1	152	OBG-type G. {ECO:0000255|PROSITE- ProRule:PRU01047}.				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)	p.L152M(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	11						TCTGGATGTCCTGAAACCTTT	0.403																																																1	Substitution - Missense(1)	endometrium(1)											87	82	84					22																	31816283		2203	4300	6503	SO:0001819	synonymous_variant	4733			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.454C>T	chr22.hg19:g.31816283C>T			B2RDS8|Q6FGP8|Q8WW69|Q9UGF2	Silent	SNP	ENST00000331457.4	hg19	CCDS13897.1																																																																																				0.403	DRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075680.5	NM_004147		T	31816283	C	T	31816283	2	4	805	1	0	0	0	0	0	0	0	1	4763	680	24	2		2	DRG1	22	31816283	Silent	SNP	C	TCGA-UZ-A9PR-01A-11D-A42J-10	7851991	31816283	19488283	102	48113											
TBC1D22A	25771	hgsc.bcm.edu	37	22	47287237	47287248	+	In_Frame_Del	DEL	GAGCACTATTAC	GAGCACTATTAC	-	rs117270140	byFrequency	TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	GAGCACTATTAC	GAGCACTATTAC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chr22:47287237_47287248delGAGCACTATTAC	ENST00000337137.4	+	6	950_961	c.784_795delGAGCACTATTAC	c.(784-795)gagcactattacdel	p.EHYY262del	TBC1D22A_ENST00000406733.1_In_Frame_Del_p.EHYY215del|TBC1D22A_ENST00000355704.3_In_Frame_Del_p.EHYY184del|TBC1D22A_ENST00000407381.3_In_Frame_Del_p.EHYY203del|TBC1D22A_ENST00000380995.1_In_Frame_Del_p.EHYY215del	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	262	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)		TGCATTTATTGAGCACTATTACGATTCTAGGA	0.41																																																0																																										SO:0001651	inframe_deletion	25771			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.784_795delGAGCACTATTAC	chr22.hg19:g.47287237_47287248delGAGCACTATTAC	ENSP00000336724:p.Glu262_Tyr265del		B0QYI2|B0QYI3|B9A6M3|Q5TE47|Q6ZUH2|Q92680|Q9BVD6|Q9UGG0|Q9UGT2|Q9UGU6|Q9UH25|Q9Y4W5	In_Frame_Del	DEL	ENST00000337137.4	hg19	CCDS14078.1																																																																																				0.41	TBC1D22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317600.3	NM_014346		-	47287248	GAGCACTATTAC	-	47287237	7	5	805	1	0	1	0	1	0	0	0	0	15616	1291	45	0	806	0	TBC1D22A	22	47287237	In_Frame_Del	DEL	GAGCACTATTAC	TCGA-UZ-A9PR-01A-11D-A42J-10	15470954	47287237	4017329	103	48114											
EFHC2	80258	hgsc.bcm.edu	37	X	44008117	44008117	+	Missense_Mutation	SNP	A	A	T			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chrX:44008117A>T	ENST00000420999.1	-	15	2257	c.2174T>A	c.(2173-2175)aTg>aAg	p.M725K	EFHC2_ENST00000343571.3_5'UTR	NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	725							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						AGGTGATGGCATACCAAGCCA	0.378																																																0													81	68	72					X																	44008117		1873	4089	5962	SO:0001583	missense	80258			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.2174T>A	chrX.hg19:g.44008117A>T	ENSP00000404232:p.Met725Lys		Q5JST8|Q68DK4|Q8NEI0|Q9H653	Missense_Mutation	SNP	ENST00000420999.1	hg19	CCDS55405.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	4.147|4.147	0.025585|0.025585	0.08054|0.08054	.|.	.|.	ENSG00000183690|ENSG00000183690	ENST00000343571;ENST00000333807;ENST00000420999|ENST00000441230	T;T|.	0.65916|.	-0.17;-0.18|.	5.52|5.52	-0.196|-0.196	0.13232|0.13232	.|.	0.626150|.	0.16544|.	N|.	0.209813|.	T|.	0.36717|.	0.0977|.	L|L	0.57536|0.57536	1.79|1.79	0.09310|0.09310	N|N	1|1	B|.	0.10296|.	0.003|.	B|.	0.06405|.	0.002|.	T|.	0.34900|.	-0.9810|.	10|.	0.07175|.	T|.	0.84|.	-5.6211|-5.6211	1.4427|1.4427	0.02357|0.02357	0.3921:0.1429:0.0876:0.3774|0.3921:0.1429:0.0876:0.3774	.|.	725|.	Q5JST6|.	EFHC2_HUMAN|.	K|X	138;725;753|705	ENSP00000333823:M725K;ENSP00000404232:M753K|.	ENSP00000333823:M725K|.	M|Y	-|-	2|3	0|2	EFHC2|EFHC2	43893061|43893061	0.585000|0.585000	0.26774|0.26774	0.358000|0.358000	0.25811|0.25811	0.080000|0.080000	0.17528|0.17528	0.391000|0.391000	0.20784|0.20784	-0.049000|-0.049000	0.13379|0.13379	0.412000|0.412000	0.27726|0.27726	ATG|TAT		0.378	EFHC2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056312.2	NM_025184		T	44008117	A	T	44008117	3	4	805	1	0	0	0	0	1	0	0	0	4949	217	8	5	79	5	EFHC2	23	44008117	Missense_Mutation	SNP	A	TCGA-UZ-A9PR-01A-11D-A42J-10		44008117	111262443	104	48115											
SUV39H1	6839	hgsc.bcm.edu	37	X	48558807	48558807	+	Missense_Mutation	SNP	A	A	G			TCGA-UZ-A9PR-01A-11D-A42J-10	TCGA-UZ-A9PR-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22f04597-4f4f-47c4-9d69-6b3b3f20701d	f568a26d-8461-430f-82d6-b31750f9addc	g.chrX:48558807A>G	ENST00000376687.3	+	3	681	c.491A>G	c.(490-492)aAt>aGt	p.N164S	SUV39H1_ENST00000453214.2_Intron|SUV39H1_ENST00000337852.6_Missense_Mutation_p.N175S|AF196970.3_ENST00000416061.1_RNA	NM_003173.2	NP_003164.1	O43463	SUV91_HUMAN	suppressor of variegation 3-9 homolog 1 (Drosophila)	164					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chromatin organization (GO:0006325)|chromatin silencing at rDNA (GO:0000183)|histone H3-K9 dimethylation (GO:0036123)|histone H3-K9 trimethylation (GO:0036124)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin silencing complex (GO:0005677)|chromosome, centromeric region (GO:0000775)|condensed nuclear chromosome (GO:0000794)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|rDNA heterochromatin (GO:0033553)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|protein N-terminus binding (GO:0047485)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						GTGTACATCAATGAGTACCGT	0.632																																																0													62	47	52					X																	48558807		2203	4300	6503	SO:0001583	missense	6839			AF019968	CCDS14304.1, CCDS65252.1	Xp11.23	2011-07-01	2001-11-28		ENSG00000101945	ENSG00000101945		"Chromatin-modifying enzymes / K-methyltransferases"	11479	protein-coding gene	gene with protein product		300254	"suppressor of variegation 3-9 (Drosophila) homolog 1"	SUV39H		10202156	Standard	NM_001282166		Approved	KMT1A	uc004dkn.3	O43463	OTTHUMG00000022701	ENST00000376687.3:c.491A>G	chrX.hg19:g.48558807A>G	ENSP00000365877:p.Asn164Ser		B2R6E8|B4DST0|Q53G60|Q6FHK6	Missense_Mutation	SNP	ENST00000376687.3	hg19	CCDS14304.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.994484	0.74703	.	.	ENSG00000101945	ENST00000337852;ENST00000376687;ENST00000448548;ENST00000422496	D;D	0.89196	-2.48;-2.48	4.61	4.61	0.57282	Pre-SET zinc-binding sub-group (1);Pre-SET domain (1);	0.000000	0.85682	D	0.000000	D	0.88009	0.6322	L	0.46614	1.455	0.80722	D	1	P;P	0.42123	0.771;0.771	P;P	0.48488	0.475;0.579	D	0.86401	0.1742	10	0.38643	T	0.18	.	11.0625	0.47955	1.0:0.0:0.0:0.0	.	175;164	B4DST0;O43463	.;SUV91_HUMAN	S	175;164;162;22	ENSP00000337976:N175S;ENSP00000365877:N164S	ENSP00000337976:N175S	N	+	2	0	SUV39H1	48443751	1.000000	0.71417	0.993000	0.49108	0.987000	0.75469	9.297000	0.96120	1.505000	0.48720	0.409000	0.27619	AAT		0.632	SUV39H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058909.1	NM_003173		G	48558807	A	G	48558807	3	3	805	1	0	0	0	0	1	0	0	0	15417	101	4	3	501	3	SUV39H1	23	48558807	Missense_Mutation	SNP	A	TCGA-UZ-A9PR-01A-11D-A42J-10	4550690	48558807	106711753	105	48116											
C1orf86	199990	hgsc.bcm.edu	37	1	2125123	2125123	+	Missense_Mutation	SNP	G	G	T	rs200185087	byFrequency	TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr1:2125123G>T	ENST00000378546.4	-	3	449	c.425C>A	c.(424-426)gCg>gAg	p.A142E	C1orf86_ENST00000400919.3_5'UTR|C1orf86_ENST00000487186.1_5'UTR|C1orf86_ENST00000378545.3_Missense_Mutation_p.A245E	NM_182533.2	NP_872339	Q6NZ36	FAP20_HUMAN	chromosome 1 open reading frame 86	142					cellular response to DNA damage stimulus (GO:0006974)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	cell junction (GO:0030054)|chromosome (GO:0005694)|Fanconi anaemia nuclear complex (GO:0043240)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|metal ion binding (GO:0046872)|polyubiquitin binding (GO:0031593)|ubiquitin binding (GO:0043130)			central_nervous_system(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	all_cancers(77;0.000134)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-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;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		GCGCAGGGCCGCGGCACCCTC	0.711																																																0													17	23	21					1																	2125123		2043	4103	6146	SO:0001583	missense	199990			AK126870	CCDS38.2, CCDS57965.1, CCDS72686.1, CCDS72687.1	1p36.33	2013-05-22			ENSG00000162585	ENSG00000162585			26428	protein-coding gene	gene with protein product		615183				14702039	Standard	NM_182533		Approved	FLJ31031, FAAP20	uc031pkt.1	Q6NZ36	OTTHUMG00000001404	ENST00000378546.4:c.425C>A	chr1.hg19:g.2125123G>T	ENSP00000367808:p.Ala142Glu		A6PW39|A6PW40|A6PW41|A8MQT6|F2Z2L4|Q6ZT64|Q71M24|Q96ND7	Missense_Mutation	SNP	ENST00000378546.4	hg19	CCDS38.2	.	.	.	.	.	.	.	.	.	.	G	12.57	1.978697	0.34942	.	.	ENSG00000162585	ENST00000400918;ENST00000378546;ENST00000378545	T;T;T	0.44881	0.92;0.95;0.91	4.05	-5.63	0.02474	.	1.543580	0.04329	N	0.352089	T	0.22205	0.0535	.	.	.	0.09310	N	1	B	0.11235	0.004	B	0.12837	0.008	T	0.11446	-1.0587	9	0.33141	T	0.24	6.0E-4	2.3251	0.04221	0.5065:0.2024:0.172:0.1192	.	142	Q6NZ36	CA086_HUMAN	E	142;142;245	ENSP00000383709:A142E;ENSP00000367808:A142E;ENSP00000367807:A245E	ENSP00000367807:A245E	A	-	2	0	C1orf86	2114983	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.396000	0.07278	-0.914000	0.03827	-0.367000	0.07326	GCG		0.711	C1orf86-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316541.1	NM_182533		T	2125123	G	T	2125123	3	4	806	1	0	0	0	0	1	0	0	0	2065	1087	38	4	365	4	C1orf86	1	2125123	Missense_Mutation	SNP	G	TCGA-UZ-A9PS-01A-11D-A42J-10		2125123	247125498	1	48117											
C1orf127	148345	hgsc.bcm.edu	37	1	11008797	11008797	+	Frame_Shift_Del	DEL	A	A	-			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr1:11008797delA	ENST00000377008.4	-	11	1340	c.894delT	c.(892-894)cctfs	p.P300fs	C1orf127_ENST00000377004.4_Frame_Shift_Del_p.P467fs			Q8N9H9	CA127_HUMAN	chromosome 1 open reading frame 127	300	Pro-rich.									NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		CCCCTGGGGGAGGCTGGGGAC	0.652																																																0													53	62	59					1																	11008797		2203	4300	6503	SO:0001589	frameshift_variant	148345			AK094437	CCDS53267.1	1p36.22	2008-02-05			ENSG00000175262	ENSG00000175262			26730	protein-coding gene	gene with protein product						14702039	Standard	NM_001170754		Approved	FLJ37118	uc010oao.2	Q8N9H9	OTTHUMG00000002032	ENST00000377008.4:c.894delT	chr1.hg19:g.11008797delA	ENSP00000366207:p.Pro300fs		A0AVG8|A6NKM7|Q5VXJ2	Frame_Shift_Del	DEL	ENST00000377008.4	hg19																																																																																					0.652	C1orf127-202	KNOWN	basic	protein_coding	protein_coding		NM_173507		-	11008797	A	-	11008797	7	5	806	1	0	1	0	1	0	0	0	0	1996	291	11	0	1080	0	C1orf127	1	11008797	Frame_Shift_Del	DEL	A	TCGA-UZ-A9PS-01A-11D-A42J-10	8883674	11008797	238241824	2	48118											
C1orf127	148345	hgsc.bcm.edu	37	1	11009850	11009850	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr1:11009850G>A	ENST00000377008.4	-	10	1066	c.620C>T	c.(619-621)gCc>gTc	p.A207V	C1orf127_ENST00000377004.4_Missense_Mutation_p.A374V			Q8N9H9	CA127_HUMAN	chromosome 1 open reading frame 127	207										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		AGCAGTTGAGGCAGGCGACTC	0.602																																																0													50	48	49					1																	11009850		2197	4291	6488	SO:0001583	missense	148345			AK094437	CCDS53267.1	1p36.22	2008-02-05			ENSG00000175262	ENSG00000175262			26730	protein-coding gene	gene with protein product						14702039	Standard	NM_001170754		Approved	FLJ37118	uc010oao.2	Q8N9H9	OTTHUMG00000002032	ENST00000377008.4:c.620C>T	chr1.hg19:g.11009850G>A	ENSP00000366207:p.Ala207Val		A0AVG8|A6NKM7|Q5VXJ2	Missense_Mutation	SNP	ENST00000377008.4	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.97|18.97	3.735300|3.735300	0.69189|0.69189	.|.	.|.	ENSG00000175262|ENSG00000175262	ENST00000377004;ENST00000377008|ENST00000418570;ENST00000520253	T;T|.	0.25579|.	1.79;1.79|.	4.33|4.33	-0.909|-0.909	0.10514|0.10514	.|.	1.285140|.	0.05693|.	N|.	0.592657|.	T|T	0.21590|0.21590	0.0520|0.0520	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	P;P;P|.	0.35745|.	0.518;0.518;0.518|.	B;B;B|.	0.36464|.	0.225;0.225;0.225|.	T|T	0.30794|0.30794	-0.9966|-0.9966	10|5	0.16896|.	T|.	0.51|.	-0.5709|-0.5709	7.1323|7.1323	0.25508|0.25508	0.5857:0.0:0.4143:0.0|0.5857:0.0:0.4143:0.0	.|.	225;225;207|.	B7ZLG7;Q8N9H9-2;Q8N9H9|.	.;.;CA127_HUMAN|.	V|S	374;207|209;352	ENSP00000366203:A374V;ENSP00000366207:A207V|.	ENSP00000366203:A374V|.	A|P	-|-	2|1	0|0	C1orf127|C1orf127	10932437|10932437	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.790000|0.790000	0.44656|0.44656	0.275000|0.275000	0.18698|0.18698	-0.069000|-0.069000	0.12931|0.12931	0.467000|0.467000	0.42956|0.42956	GCC|CCT		0.602	C1orf127-202	KNOWN	basic	protein_coding	protein_coding		NM_173507		A	11009850	G	A	11009850	3	1	806	1	0	0	0	0	1	0	0	0	1996	1203	42	2	1358	2	C1orf127	1	11009850	Missense_Mutation	SNP	G	TCGA-UZ-A9PS-01A-11D-A42J-10	1053	11009850	238240771	3	48119											
PRDM2	7799	hgsc.bcm.edu	37	1	14105779	14105779	+	Missense_Mutation	SNP	A	A	G			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr1:14105779A>G	ENST00000235372.7	+	8	2345	c.1489A>G	c.(1489-1491)Aat>Gat	p.N497D	PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.N296D|PRDM2_ENST00000311066.5_Missense_Mutation_p.N497D|PRDM2_ENST00000413440.1_Missense_Mutation_p.N296D|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000503842.1_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	497					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)		AACTCATACTAATATGAGACG	0.438																																																0													40	38	39					1																	14105779		2203	4300	6503	SO:0001583	missense	7799			U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"Chromatin-modifying enzymes / K-methyltransferases"	9347	protein-coding gene	gene with protein product	"retinoblastoma protein-binding zinc finger protein", "retinoblastoma protein-interacting zinc finger protein", "MTE-binding protein", "zinc-finger DNA-binding protein", "GATA-3 binding protein G3B"	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.1489A>G	chr1.hg19:g.14105779A>G	ENSP00000235372:p.Asn497Asp		B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	hg19	CCDS150.1	.	.	.	.	.	.	.	.	.	.	A	15.30	2.791949	0.50102	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93	5.62	5.62	0.85841	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.85682	D	0.000000	T	0.80099	0.4561	L	0.32530	0.975	0.53688	D	0.999976	D;D;D;D	0.89917	0.999;1.0;0.989;0.999	D;D;D;D	0.91635	0.998;0.999;0.969;0.997	T	0.81904	-0.0719	10	0.62326	D	0.03	.	14.651	0.68797	1.0:0.0:0.0:0.0	.	497;355;497;497	A8MW16;Q5THJ0;Q13029;Q13029-2	.;.;PRDM2_HUMAN;.	D	497;497;497;296;296	ENSP00000235372:N497D;ENSP00000312352:N497D;ENSP00000411103:N296D;ENSP00000341621:N296D	ENSP00000235372:N497D	N	+	1	0	PRDM2	13978366	1.000000	0.71417	0.065000	0.19835	0.710000	0.40934	8.962000	0.93254	2.129000	0.65627	0.533000	0.62120	AAT		0.438	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		G	14105779	A	G	14105779	3	3	806	1	0	0	0	0	1	0	0	0	12463	362	13	3	1515	3	PRDM2	1	14105779	Missense_Mutation	SNP	A	TCGA-UZ-A9PS-01A-11D-A42J-10	3095929	14105779	235144842	4	48120											
OTUD3	23252	hgsc.bcm.edu	37	1	20220906	20220906	+	Missense_Mutation	SNP	T	T	C			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr1:20220906T>C	ENST00000375120.3	+	3	417	c.416T>C	c.(415-417)aTt>aCt	p.I139T	OTUD3_ENST00000466697.1_3'UTR	NM_015207.1	NP_056022.1	Q5T2D3	OTUD3_HUMAN	OTU deubiquitinase 3	139	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				protein K11-linked deubiquitination (GO:0035871)|protein K6-linked deubiquitination (GO:0044313)		ubiquitin-specific protease activity (GO:0004843)			breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AATGATGCAATTGTAGCCTTT	0.383																																																0													158	148	151					1																	20220906		1883	4117	6000	SO:0001583	missense	23252			AB007928	CCDS41279.1	1p36.13	2014-02-24	2014-02-24		ENSG00000169914	ENSG00000169914		"OTU domain containing"	29038	protein-coding gene	gene with protein product		611758	"OTU domain containing 3"			9455484, 23827681	Standard	NM_015207		Approved	KIAA0459, DUBA4	uc001bcs.4	Q5T2D3	OTTHUMG00000002696	ENST00000375120.3:c.416T>C	chr1.hg19:g.20220906T>C	ENSP00000364261:p.Ile139Thr		O75047	Missense_Mutation	SNP	ENST00000375120.3	hg19	CCDS41279.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.652050	0.88056	.	.	ENSG00000169914	ENST00000375120	T	0.55588	0.51	5.92	5.92	0.95590	Ovarian tumour, otubain (2);	0.000000	0.85682	D	0.000000	T	0.78923	0.4360	M	0.92604	3.325	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.84259	0.0482	10	0.87932	D	0	.	15.1888	0.73025	0.0:0.0:0.0:1.0	.	139	Q5T2D3	OTUD3_HUMAN	T	139	ENSP00000364261:I139T	ENSP00000364261:I139T	I	+	2	0	OTUD3	20093493	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.019000	0.76412	2.263000	0.75096	0.533000	0.62120	ATT		0.383	OTUD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007655.1			C	20220906	T	C	20220906	3	2	806	1	0	0	0	0	1	0	0	0	11315	1493	52	3	426	3	OTUD3	1	20220906	Missense_Mutation	SNP	T	TCGA-UZ-A9PS-01A-11D-A42J-10	6115127	20220906	229029715	5	48121	516	2									
OTUD3	23252	hgsc.bcm.edu	37	1	20220910	20220910	+	Silent	SNP	A	A	G			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr1:20220910A>G	ENST00000375120.3	+	3	421	c.420A>G	c.(418-420)gtA>gtG	p.V140V	OTUD3_ENST00000466697.1_3'UTR	NM_015207.1	NP_056022.1	Q5T2D3	OTUD3_HUMAN	OTU deubiquitinase 3	140	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				protein K11-linked deubiquitination (GO:0035871)|protein K6-linked deubiquitination (GO:0044313)		ubiquitin-specific protease activity (GO:0004843)			breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ATGCAATTGTAGCCTTTGCAA	0.378																																																0													156	148	150					1																	20220910		1879	4117	5996	SO:0001819	synonymous_variant	23252			AB007928	CCDS41279.1	1p36.13	2014-02-24	2014-02-24		ENSG00000169914	ENSG00000169914		"OTU domain containing"	29038	protein-coding gene	gene with protein product		611758	"OTU domain containing 3"			9455484, 23827681	Standard	NM_015207		Approved	KIAA0459, DUBA4	uc001bcs.4	Q5T2D3	OTTHUMG00000002696	ENST00000375120.3:c.420A>G	chr1.hg19:g.20220910A>G			O75047	Silent	SNP	ENST00000375120.3	hg19	CCDS41279.1																																																																																				0.378	OTUD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007655.1			G	20220910	A	G	20220910	2	3	806	1	0	0	0	0	0	0	0	1	11315	407	15	3		3	OTUD3	1	20220910	Silent	SNP	A	TCGA-UZ-A9PS-01A-11D-A42J-10	4	20220910	229029711	6	48122	516	2									
USP48	84196	hgsc.bcm.edu	37	1	22041910	22041910	+	Missense_Mutation	SNP	A	A	T			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr1:22041910A>T	ENST00000308271.9	-	15	2583	c.1935T>A	c.(1933-1935)aaT>aaA	p.N645K	USP48_ENST00000529637.1_Missense_Mutation_p.N644K|USP48_ENST00000374732.3_Missense_Mutation_p.N183K|USP48_ENST00000400301.1_Missense_Mutation_p.N645K	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	645	DUSP 2. {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)		CTTCATTAAAATTTAATTCCT	0.303																																																0													71	74	73					1																	22041910		2202	4298	6500	SO:0001583	missense	84196			AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"Ubiquitin-specific peptidases"	18533	protein-coding gene	gene with protein product			"ubiquitin specific protease 31", "ubiquitin specific protease 48"	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.1935T>A	chr1.hg19:g.22041910A>T	ENSP00000309262:p.Asn645Lys		B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000308271.9	hg19	CCDS30623.1	.	.	.	.	.	.	.	.	.	.	A	13.67	2.307579	0.40795	.	.	ENSG00000090686	ENST00000400301;ENST00000308271;ENST00000374732;ENST00000529637	T;T;T;T	0.40756	1.02;1.02;1.02;1.17	5.17	4.04	0.47022	Peptidase C19, ubiquitin-specific peptidase, DUSP domain (1);	0.360545	0.33161	N	0.005218	T	0.29783	0.0744	L	0.53249	1.67	0.42183	D	0.991695	B;B;B;B;B	0.23249	0.059;0.006;0.01;0.006;0.082	B;B;B;B;B	0.21708	0.02;0.01;0.022;0.01;0.036	T	0.13202	-1.0518	10	0.02654	T	1	.	6.0987	0.20035	0.7524:0.1629:0.0847:0.0	.	644;645;645;645;183	B7ZKS7;B7ZKS3;Q86UV5-2;Q86UV5;Q86UV5-5	.;.;.;UBP48_HUMAN;.	K	645;645;183;644	ENSP00000383157:N645K;ENSP00000309262:N645K;ENSP00000363864:N183K;ENSP00000431949:N644K	ENSP00000309262:N645K	N	-	3	2	USP48	21914497	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.387000	0.34430	0.820000	0.34516	0.533000	0.62120	AAT		0.303	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021372.1	NM_032236		T	22041910	A	T	22041910	3	4	806	1	0	0	0	0	1	0	0	0	17084	98	4	5	1224	5	USP48	1	22041910	Missense_Mutation	SNP	A	TCGA-UZ-A9PS-01A-11D-A42J-10	1821000	22041910	227208711	7	48123											
KIAA0467	23334	hgsc.bcm.edu	37	1	43906920	43906920	+	Missense_Mutation	SNP	A	A	T			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr1:43906920A>T	ENST00000562955.1	+	52	7209	c.7209A>T	c.(7207-7209)aaA>aaT	p.K2403N	SZT2_ENST00000372442.1_Missense_Mutation_p.K1561N	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2460					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						GTTCCCCCAAAACAACTGATG	0.572																																																0													119	129	125					1																	43906920		2203	4300	6503	SO:0001583	missense	23334			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.7209A>T	chr1.hg19:g.43906920A>T	ENSP00000457168:p.Lys2403Asn		A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	hg19	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	A	18.79	3.698115	0.68386	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.41	4.28	0.50868	.	0.106321	0.64402	D	0.000004	T	0.52058	0.1711	L	0.46157	1.445	0.27018	N	0.964522	D	0.89917	1.0	D	0.91635	0.999	T	0.42430	-0.9452	9	0.62326	D	0.03	.	6.8705	0.24119	0.8287:0.0:0.1713:0.0	.	2403	Q5T011-5	.	N	1561	.	ENSP00000361519:K1561N	K	+	3	2	SZT2	43679507	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.179000	0.42528	2.186000	0.69663	0.482000	0.46254	AAA		0.572	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		T	43906920	A	T	43906920	3	4	806	1	0	0	0	0	1	0	0	0	8180	11	1	5	4825	5	KIAA0467	1	43906920	Missense_Mutation	SNP	A	TCGA-UZ-A9PS-01A-11D-A42J-10	21865010	43906920	205343701	8	48124											
RPRD2	23248	hgsc.bcm.edu	37	1	150337371	150337371	+	Missense_Mutation	SNP	C	C	A			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr1:150337371C>A	ENST00000369068.4	+	1	185	c.181C>A	c.(181-183)Cat>Aat	p.H61N	RPRD2_ENST00000539519.1_Missense_Mutation_p.H61N|RPRD2_ENST00000492220.1_Intron|RPRD2_ENST00000369067.3_Missense_Mutation_p.H61N|RPRD2_ENST00000401000.4_Missense_Mutation_p.H61N	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	61	CID. {ECO:0000255|PROSITE- ProRule:PRU00724}.					DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TATCGTCTATCATTGGATGAA	0.483																																																0													111	108	109					1																	150337371		1960	4155	6115	SO:0001583	missense	23248			BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"KIAA0460"	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.181C>A	chr1.hg19:g.150337371C>A	ENSP00000358064:p.His61Asn		A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Missense_Mutation	SNP	ENST00000369068.4	hg19	CCDS44216.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.383325	0.61845	.	.	ENSG00000163125	ENST00000401000;ENST00000539519;ENST00000369067;ENST00000369068	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	4.42	4.42	0.53409	ENTH/VHS (2);RNA polymerase II, large subunit, CTD (2);	0.175243	0.50627	D	0.000104	T	0.37461	0.1004	L	0.44542	1.39	0.43095	D	0.994776	D;D;D	0.56968	0.967;0.967;0.978	P;P;P	0.53649	0.637;0.537;0.731	T	0.04900	-1.0919	10	0.28530	T	0.3	-9.375	17.1984	0.86900	0.0:1.0:0.0:0.0	.	61;61;61	B4E2Q6;Q5VT52;Q5VT52-3	.;RPRD2_HUMAN;.	N	61	ENSP00000383785:H61N;ENSP00000445482:H61N;ENSP00000358063:H61N;ENSP00000358064:H61N	ENSP00000358063:H61N	H	+	1	0	RPRD2	148603995	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	2.209000	0.42806	2.449000	0.82847	0.655000	0.94253	CAT		0.483	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203		A	150337371	C	A	150337371	3	1	806	1	0	0	0	0	1	0	0	0	13623	826	29	4	183	4	RPRD2	1	150337371	Missense_Mutation	SNP	C	TCGA-UZ-A9PS-01A-11D-A42J-10	106430451	150337371	98913250	9	48125											
CACNA1E	777	hgsc.bcm.edu	37	1	181765855	181765855	+	Missense_Mutation	SNP	A	A	C			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr1:181765855A>C	ENST00000367573.2	+	47	6260	c.6260A>C	c.(6259-6261)aAa>aCa	p.K2087T	CACNA1E_ENST00000367567.4_Missense_Mutation_p.K1651T|CACNA1E_ENST00000357570.5_Missense_Mutation_p.K2038T|CACNA1E_ENST00000526775.1_Missense_Mutation_p.K2025T|CACNA1E_ENST00000367570.1_Missense_Mutation_p.K2044T|CACNA1E_ENST00000360108.3_Missense_Mutation_p.K2068T|CACNA1E_ENST00000358338.5_Missense_Mutation_p.K1976T	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2087					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						GGACGATCAAAAGAGCGAAAG	0.572																																																0													48	51	50					1																	181765855		1979	4168	6147	SO:0001583	missense	777			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.6260A>C	chr1.hg19:g.181765855A>C	ENSP00000356545:p.Lys2087Thr		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	hg19	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.447471	0.84101	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.97328	-4.25;-4.25;-4.17;-4.24;-4.34;-4.17;-4.17	5.91	5.91	0.95273	.	0.676128	0.14977	N	0.287490	D	0.97666	0.9235	L	0.42245	1.32	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.937;0.996	D	0.97817	1.0254	10	0.72032	D	0.01	.	16.0098	0.80391	1.0:0.0:0.0:0.0	.	2025;2044	Q15878-2;Q15878-3	.;.	T	2044;2025;2038;1976;1651;2068;2087	ENSP00000356542:K2044T;ENSP00000434814:K2025T;ENSP00000350183:K2038T;ENSP00000351101:K1976T;ENSP00000356539:K1651T;ENSP00000353222:K2068T;ENSP00000356545:K2087T	ENSP00000350183:K2038T	K	+	2	0	CACNA1E	180032478	1.000000	0.71417	0.994000	0.49952	0.984000	0.73092	6.736000	0.74811	2.254000	0.74563	0.533000	0.62120	AAA		0.572	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		C	181765855	A	C	181765855	3	2	806	1	0	0	0	0	1	0	0	0	2544	14	1	5	6313	5	CACNA1E	1	181765855	Missense_Mutation	SNP	A	TCGA-UZ-A9PS-01A-11D-A42J-10	31428484	181765855	67484766	10	48126											
USH2A	7399	hgsc.bcm.edu	37	1	215853630	215853630	+	Missense_Mutation	SNP	A	A	C			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr1:215853630A>C	ENST00000307340.3	-	62	12541	c.12155T>G	c.(12154-12156)aTt>aGt	p.I4052S	USH2A_ENST00000366943.2_Missense_Mutation_p.I4052S	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4052	Fibronectin type-III 25. {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)		AGGGCTTAAAATTTCTCCTGC	0.438										HNSCC(13;0.011)																																						0													123	126	125					1																	215853630		2203	4300	6503	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.12155T>G	chr1.hg19:g.215853630A>C	ENSP00000305941:p.Ile4052Ser		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	hg19	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	A	15.16	2.751331	0.49257	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.44083	0.93;0.93	5.25	5.25	0.73442	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.360514	0.19602	N	0.110361	T	0.16214	0.0390	N	0.02345	-0.59	0.25312	N	0.989196	B	0.27625	0.183	B	0.25614	0.062	T	0.18713	-1.0328	10	0.07990	T	0.79	.	9.6563	0.39928	0.9223:0.0:0.0777:0.0	.	4052	O75445	USH2A_HUMAN	S	4052	ENSP00000305941:I4052S;ENSP00000355910:I4052S	ENSP00000305941:I4052S	I	-	2	0	USH2A	213920253	1.000000	0.71417	0.994000	0.49952	0.983000	0.72400	4.018000	0.57174	1.987000	0.57996	0.528000	0.53228	ATT		0.438	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		C	215853630	A	C	215853630	3	2	806	1	0	0	0	0	1	0	0	0	17041	101	4	5	3497	5	USH2A	1	215853630	Missense_Mutation	SNP	A	TCGA-UZ-A9PS-01A-11D-A42J-10	34087775	215853630	33396991	11	48127											
OBSCN	84033	hgsc.bcm.edu	37	1	228525744	228525744	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr1:228525744G>A	ENST00000422127.1	+	67	16944	c.16900G>A	c.(16900-16902)Gca>Aca	p.A5634T	OBSCN_ENST00000570156.2_Missense_Mutation_p.A6591T|OBSCN_ENST00000366709.4_Missense_Mutation_p.A2753T|OBSCN_ENST00000366707.4_Missense_Mutation_p.A3268T|OBSCN_ENST00000284548.11_Missense_Mutation_p.A5634T	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5634	SH3.				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)				GGTCCTGGATGCAGCCCACCC	0.632																																																0													35	36	36					1																	228525744		2182	4279	6461	SO:0001583	missense	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.16900G>A	chr1.hg19:g.228525744G>A	ENSP00000409493:p.Ala5634Thr		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	hg19	CCDS58065.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.56|15.56	2.869835|2.869835	0.51588|0.51588	.|.	.|.	ENSG00000154358|ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709|ENST00000441106	T;T;T;T|.	0.30981|.	1.51;1.51;1.51;1.51|.	4.35|4.35	1.93|1.93	0.25924|0.25924	Src homology-3 domain (2);|.	0.094130|.	0.45126|.	D|.	0.000387|.	T|T	0.27697|0.27697	0.0681|0.0681	N|N	0.14661|0.14661	0.345|0.345	0.29310|0.29310	N|N	0.868084|0.868084	B;B|.	0.29988|.	0.172;0.264|.	B;B|.	0.28011|.	0.039;0.085|.	T|T	0.25047|0.25047	-1.0143|-1.0143	10|5	0.54805|.	T|.	0.06|.	.|.	11.1252|11.1252	0.48315|0.48315	0.0:0.0:0.3104:0.6896|0.0:0.0:0.3104:0.6896	.|.	5634;5634|.	Q5VST9;Q5VST9-3|.	OBSCN_HUMAN;.|.	T|Y	5634;5634;3268;2753|249	ENSP00000284548:A5634T;ENSP00000409493:A5634T;ENSP00000355668:A3268T;ENSP00000355670:A2753T|.	ENSP00000284548:A5634T|.	A|C	+|+	1|2	0|0	OBSCN|OBSCN	226592367|226592367	1.000000|1.000000	0.71417|0.71417	0.267000|0.267000	0.24556|0.24556	0.522000|0.522000	0.34438|0.34438	4.088000|4.088000	0.57678|0.57678	0.292000|0.292000	0.22492|0.22492	-0.500000|-0.500000	0.04577|0.04577	GCA|TGC		0.632	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		A	228525744	G	A	228525744	3	1	806	1	0	0	0	0	1	0	0	0	10814	1319	46	2	17162	2	OBSCN	1	228525744	Missense_Mutation	SNP	G	TCGA-UZ-A9PS-01A-11D-A42J-10	12672114	228525744	20724877	12	48128											
NUP133	55746	hgsc.bcm.edu	37	1	229606482	229606482	+	Missense_Mutation	SNP	A	A	T			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr1:229606482A>T	ENST00000261396.3	-	15	2012	c.1921T>A	c.(1921-1923)Tgt>Agt	p.C641S	NUP133_ENST00000537506.1_Missense_Mutation_p.C625S	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	641					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)				GCATGCTCACAGAGCAACAGT	0.478																																																0													104	94	97					1																	229606482		2203	4300	6503	SO:0001583	missense	55746				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.1921T>A	chr1.hg19:g.229606482A>T	ENSP00000261396:p.Cys641Ser		B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Missense_Mutation	SNP	ENST00000261396.3	hg19	CCDS1579.1	.	.	.	.	.	.	.	.	.	.	A	14.30	2.495539	0.44352	.	.	ENSG00000069248	ENST00000366681;ENST00000261396;ENST00000366679;ENST00000537506	T;T;T	0.23754	1.89;1.89;1.9	5.56	5.56	0.83823	Nucleoporin, Nup133/Nup155-like, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.29850	0.0746	M	0.73598	2.24	0.80722	D	1	B	0.14438	0.01	B	0.17433	0.018	T	0.06826	-1.0805	10	0.27785	T	0.31	-21.0231	11.7266	0.51712	0.8679:0.0:0.0:0.132	.	641	Q8WUM0	NU133_HUMAN	S	641;641;641;625	ENSP00000261396:C641S;ENSP00000355640:C641S;ENSP00000443496:C625S	ENSP00000261396:C641S	C	-	1	0	NUP133	227673105	1.000000	0.71417	0.999000	0.59377	0.922000	0.55478	5.911000	0.69939	2.240000	0.73641	0.533000	0.62120	TGT		0.478	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1	NM_018230		T	229606482	A	T	229606482	3	4	806	1	0	0	0	0	1	0	0	0	10756	188	7	5	1597	5	NUP133	1	229606482	Missense_Mutation	SNP	A	TCGA-UZ-A9PS-01A-11D-A42J-10	1080738	229606482	19644139	13	48129											
OR2T2	401992	hgsc.bcm.edu	37	1	248616710	248616734	+	Frame_Shift_Del	DEL	CGTGCTGATGCTGCTTATCCCTCTA	CGTGCTGATGCTGCTTATCCCTCTA	-	rs199823862|rs201716034|rs376194718		TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	CGTGCTGATGCTGCTTATCCCTCTA	CGTGCTGATGCTGCTTATCCCTCTA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr1:248616710_248616734delCGTGCTGATGCTGCTTATCCCTCTA	ENST00000342927.3	+	1	634_658	c.612_636delCGTGCTGATGCTGCTTATCCCTCTA	c.(610-636)tgcgtgctgatgctgcttatccctctafs	p.CVLMLLIPL204fs		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, 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)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	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)			ATGCCTGCTGCGTGCTGATGCTGCTTATCCCTCTATCTGTCATCT	0.529																																																0																																										SO:0001589	frameshift_variant	401992			BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"GPCR / Class A : Olfactory receptors"	14725	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily T, member 2 pseudogene"	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	ENST00000342927.3:c.612_636delCGTGCTGATGCTGCTTATCCCTCTA	chr1.hg19:g.248616710_248616734delCGTGCTGATGCTGCTTATCCCTCTA	ENSP00000343062:p.Cys204fs		B2RNM1|B9EH01	Frame_Shift_Del	DEL	ENST00000342927.3	hg19	CCDS31116.1																																																																																				0.529	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097421.1	NM_001004136		-	248616734	CGTGCTGATGCTGCTTATCCCTCTA	-	248616710	7	5	806	1	0	1	0	1	0	0	0	0	11022	776	27	0	614	0	OR2T2	1	248616710	Frame_Shift_Del	DEL	CGTGCTGATGCTGCTTATCCCTCTA	TCGA-UZ-A9PS-01A-11D-A42J-10	19010228	248616710	633911	14	48130											
SH3YL1	26751	hgsc.bcm.edu	37	2	253096	253096	+	Silent	SNP	G	G	A			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr2:253096G>A	ENST00000405430.1	-	4	397	c.21C>T	c.(19-21)tcC>tcT	p.S7S	SH3YL1_ENST00000468321.1_5'UTR|SH3YL1_ENST00000356150.5_Silent_p.S7S|SH3YL1_ENST00000402632.1_Silent_p.S7S|SH3YL1_ENST00000403657.1_5'UTR|SH3YL1_ENST00000403712.2_Silent_p.S7S|SH3YL1_ENST00000403658.1_5'UTR			Q96HL8	SH3Y1_HUMAN	SH3 and SYLF domain containing 1	7					phosphatidylinositol biosynthetic process (GO:0006661)|regulation of ruffle assembly (GO:1900027)	ruffle membrane (GO:0032587)	phosphatase binding (GO:0019902)|phosphatidylinositol binding (GO:0035091)	p.S7S(1)		large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	7	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.034)		all cancers(51;0.000647)|Epithelial(75;0.0043)|OV - Ovarian serous cystadenocarcinoma(76;0.00871)|GBM - Glioblastoma multiforme(21;0.148)		ATTTCAAATTGGAAGGTATAG	0.289																																																1	Substitution - coding silent(1)	endometrium(1)											187	150	161					2																	253096		692	1591	2283	SO:0001819	synonymous_variant	26751				CCDS42646.1, CCDS42646.2, CCDS54332.1, CCDS62841.1	2p25.3	2013-10-18	2013-10-18		ENSG00000035115	ENSG00000035115			29546	protein-coding gene	gene with protein product			"SH3 domain containing, Ysc84-like 1 (S. cerevisiae)"			21624956	Standard	NM_001282687		Approved	Ray, DKFZP586F1318	uc002qvx.3	Q96HL8	OTTHUMG00000151359	ENST00000405430.1:c.21C>T	chr2.hg19:g.253096G>A			A8K8E7|B7WNJ4|B7WPL6|Q8NEL2|Q9H5X4|Q9Y3V5	Silent	SNP	ENST00000405430.1	hg19																																																																																					0.289	SH3YL1-003	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322352.1	NM_015677		A	253096	G	A	253096	2	1	806	1	0	0	0	0	0	0	0	1	14269	1335	47	2		2	SH3YL1	2	253096	Silent	SNP	G	TCGA-UZ-A9PS-01A-11D-A42J-10		253096	242946277	15	48131											
GPR113	165082	hgsc.bcm.edu	37	2	26537464	26537464	+	Missense_Mutation	SNP	T	T	A	rs148640513		TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr2:26537464T>A	ENST00000311519.1	-	7	949	c.950A>T	c.(949-951)cAg>cTg	p.Q317L	GPR113_ENST00000541401.1_Intron|GPR113_ENST00000333478.6_Missense_Mutation_p.Q118L|GPR113_ENST00000421160.2_Missense_Mutation_p.Q248L|GPR113_ENST00000459892.1_Intron	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	317					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTGAAGCCCTGGGCCTCGAA	0.592																																																0													117	92	101					2																	26537464		2203	4300	6503	SO:0001583	missense	165082			AB083619	CCDS33159.2, CCDS46238.1, CCDS46239.1	2p24.1	2014-08-08			ENSG00000173567	ENSG00000173567		"-", "GPCR / Class B : Orphans"	18989	protein-coding gene	gene with protein product						12435584	Standard	NM_153835		Approved	hGPCR37, PGR23	uc002rhe.4	Q8IZF5	OTTHUMG00000150225	ENST00000311519.1:c.950A>T	chr2.hg19:g.26537464T>A	ENSP00000307831:p.Gln317Leu		B4DF15|E9PEV1|Q53TA5|Q6UXT7|Q6UXX3|Q86SL7|Q8IXD8|Q8TDT3	Missense_Mutation	SNP	ENST00000311519.1	hg19	CCDS46239.1	.	.	.	.	.	.	.	.	.	.	T	15.86	2.957123	0.53293	.	.	ENSG00000173567	ENST00000333478;ENST00000421160;ENST00000311519	T;T;T	0.28895	1.59;3.13;3.13	5.43	1.65	0.23941	.	.	.	.	.	T	0.26448	0.0646	L	0.58101	1.795	0.80722	D	1	B;P;B	0.42248	0.138;0.774;0.038	B;B;B	0.39299	0.131;0.296;0.024	T	0.02909	-1.1095	8	.	.	.	-17.5326	7.2931	0.26376	0.0:0.3383:0.0:0.6617	.	248;118;317	E9PEV1;Q8IZF5-2;Q8IZF5	.;.;GP113_HUMAN	L	118;248;317	ENSP00000327396:Q118L;ENSP00000388537:Q248L;ENSP00000307831:Q317L	.	Q	-	2	0	GPR113	26390968	0.995000	0.38212	1.000000	0.80357	0.816000	0.46133	-0.005000	0.12855	0.359000	0.24239	0.459000	0.35465	CAG		0.592	GPR113-004	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316892.1	NM_153835		A	26537464	T	A	26537464	3	1	806	1	0	0	0	0	1	0	0	0	6632	1580	55	5	2406	5	GPR113	2	26537464	Missense_Mutation	SNP	T	TCGA-UZ-A9PS-01A-11D-A42J-10	26284368	26537464	216661909	16	48132											
C2orf71	388939	hgsc.bcm.edu	37	2	29296881	29296881	+	Missense_Mutation	SNP	A	A	C			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr2:29296881A>C	ENST00000331664.5	-	1	246	c.247T>G	c.(247-249)Tca>Gca	p.S83A		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	83					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						CTTTTGCCTGAAGCAGGATCT	0.512																																																0													192	177	182					2																	29296881		1924	4149	6073	SO:0001583	missense	388939				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.247T>G	chr2.hg19:g.29296881A>C	ENSP00000332809:p.Ser83Ala			Missense_Mutation	SNP	ENST00000331664.5	hg19	CCDS42669.1	.	.	.	.	.	.	.	.	.	.	A	3.559	-0.090111	0.07053	.	.	ENSG00000179270	ENST00000331664	T	0.19669	2.13	3.98	-3.53	0.04667	.	0.256680	0.27509	N	0.019056	T	0.07234	0.0183	N	0.05383	-0.06	0.09310	N	1	B	0.11235	0.004	B	0.16289	0.015	T	0.15780	-1.0425	10	0.33141	T	0.24	-2.444	4.4009	0.11386	0.4215:0.399:0.0761:0.1033	.	83	A6NGG8	CB071_HUMAN	A	83	ENSP00000332809:S83A	ENSP00000332809:S83A	S	-	1	0	C2orf71	29150385	0.006000	0.16342	0.039000	0.18376	0.862000	0.49288	-0.319000	0.08039	-0.669000	0.05289	0.459000	0.35465	TCA		0.512	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883		C	29296881	A	C	29296881	3	2	806	1	0	0	0	0	1	0	0	0	2193	246	9	5	3627	5	C2orf71	2	29296881	Missense_Mutation	SNP	A	TCGA-UZ-A9PS-01A-11D-A42J-10	2759417	29296881	213902492	17	48133											
PCBP1	5093	hgsc.bcm.edu	37	2	70315518	70315518	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr2:70315518G>T	ENST00000303577.5	+	1	934	c.643G>T	c.(643-645)Gag>Tag	p.E215*	PCBP1-AS1_ENST00000411429.1_RNA|PCBP1-AS1_ENST00000415742.1_RNA|PCBP1-AS1_ENST00000457770.1_RNA|PCBP1-AS1_ENST00000439670.2_RNA|PCBP1-AS1_ENST00000415060.2_RNA|PCBP1-AS1_ENST00000601396.1_RNA|PCBP1-AS1_ENST00000415222.1_RNA|PCBP1-AS1_ENST00000439892.1_RNA|PCBP1-AS1_ENST00000418308.1_RNA|AC016700.2_ENST00000455541.1_lincRNA|PCBP1-AS1_ENST00000419963.1_RNA|PCBP1-AS1_ENST00000456161.1_RNA|PCBP1-AS1_ENST00000423402.1_RNA|PCBP1-AS1_ENST00000434781.1_RNA|PCBP1-AS1_ENST00000425601.1_RNA|PCBP1-AS1_ENST00000609075.1_RNA|PCBP1-AS1_ENST00000444410.1_RNA|PCBP1-AS1_ENST00000596573.1_RNA|PCBP1-AS1_ENST00000418564.1_RNA|PCBP1-AS1_ENST00000421843.1_RNA|PCBP1-AS1_ENST00000452431.1_RNA|PCBP1-AS1_ENST00000458698.2_RNA|PCBP1-AS1_ENST00000429599.2_RNA|PCBP1-AS1_ENST00000432604.1_RNA|PCBP1-AS1_ENST00000416395.1_RNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000413069.1_RNA|PCBP1-AS1_ENST00000596665.1_RNA|PCBP1-AS1_ENST00000610168.1_RNA|PCBP1-AS1_ENST00000420309.1_RNA|PCBP1-AS1_ENST00000413791.1_RNA|PCBP1-AS1_ENST00000599673.1_RNA|PCBP1-AS1_ENST00000437456.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000596028.1_RNA|PCBP1-AS1_ENST00000595459.1_RNA|PCBP1-AS1_ENST00000425333.1_RNA|PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000458686.1_RNA|PCBP1-AS1_ENST00000366234.3_RNA|PCBP1-AS1_ENST00000444320.1_RNA|PCBP1-AS1_ENST00000442040.1_RNA|PCBP1-AS1_ENST00000449178.1_RNA|PCBP1-AS1_ENST00000422515.1_RNA|PCBP1-AS1_ENST00000421255.1_RNA|PCBP1-AS1_ENST00000594548.1_RNA|PCBP1-AS1_ENST00000416068.1_RNA|PCBP1-AS1_ENST00000437019.1_RNA	NM_006196.3	NP_006187.2	Q15365	PCBP1_HUMAN	poly(rC) binding protein 1	215					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)	p.E215Q(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1)	12						CCATGACCTGGAGGGACCACC	0.612																																					Colon(85;1146 1307 3484 18706 25380)											1	Substitution - Missense(1)	endometrium(1)											36	37	36					2																	70315518		2203	4300	6503	SO:0001587	stop_gained	5093				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.643G>T	chr2.hg19:g.70315518G>T	ENSP00000305556:p.Glu215*		Q13157|Q14975	Nonsense_Mutation	SNP	ENST00000303577.5	hg19	CCDS1898.1	.	.	.	.	.	.	.	.	.	.	G	38	6.876858	0.97904	.	.	ENSG00000169564	ENST00000303577	.	.	.	4.82	4.82	0.62117	.	0.453218	0.16777	N	0.199971	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	.	13.6585	0.62352	0.0:0.0:1.0:0.0	.	.	.	.	X	215	.	ENSP00000305556:E215X	E	+	1	0	PCBP1	70169022	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.492000	0.53259	2.696000	0.92011	0.650000	0.86243	GAG		0.612	PCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251844.1	NM_006196		T	70315518	G	T	70315518	4	4	806	1	0	0	0	0	0	1	0	0	11502	1175	41	4	645	4	PCBP1	2	70315518	Nonsense_Mutation	SNP	G	TCGA-UZ-A9PS-01A-11D-A42J-10	41018637	70315518	172883855	18	48134											
R3HDM1	23518	hgsc.bcm.edu	37	2	136396355	136396355	+	Frame_Shift_Del	DEL	T	T	-			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr2:136396355delT	ENST00000264160.4	+	13	1358	c.988delT	c.(988-990)tttfs	p.F330fs	R3HDM1_ENST00000409606.1_Frame_Shift_Del_p.F330fs|R3HDM1_ENST00000409478.1_Frame_Shift_Del_p.F286fs|R3HDM1_ENST00000443537.2_3'UTR|R3HDM1_ENST00000329971.3_Frame_Shift_Del_p.F286fs|R3HDM1_ENST00000410054.1_Frame_Shift_Del_p.F274fs	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	330							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)		GCGCCAGATATTTAGGTATTG	0.343																																																0													72	77	76					2																	136396355		2203	4299	6502	SO:0001589	frameshift_variant	23518			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.988delT	chr2.hg19:g.136396355delT	ENSP00000264160:p.Phe330fs		A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Frame_Shift_Del	DEL	ENST00000264160.4	hg19	CCDS2177.1																																																																																				0.343	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254659.1	NM_015361		-	136396355	T	-	136396355	7	5	806	1	0	1	0	1	0	0	0	0	12893	1493	52	0	1030	0	R3HDM1	2	136396355	Frame_Shift_Del	DEL	T	TCGA-UZ-A9PS-01A-11D-A42J-10	66080837	136396355	106803018	19	48135											
SESTD1	91404	hgsc.bcm.edu	37	2	179997038	179997038	+	Missense_Mutation	SNP	T	T	G			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr2:179997038T>G	ENST00000428443.3	-	10	1281	c.965A>C	c.(964-966)cAg>cCg	p.Q322P		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	322							phosphatidic acid binding (GO:0070300)|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)			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			CACACTGTGCTGGCTCTCAAT	0.478																																																0													276	296	289					2																	179997038		2203	4300	6503	SO:0001583	missense	91404			AK096232	CCDS33338.1	2q31.3	2014-01-28			ENSG00000187231	ENSG00000187231			18379	protein-coding gene	gene with protein product						12837271	Standard	NM_178123		Approved	DKFZp434O0515, Solo	uc002uni.4	Q86VW0	OTTHUMG00000154554	ENST00000428443.3:c.965A>C	chr2.hg19:g.179997038T>G	ENSP00000415332:p.Gln322Pro		Q53R38|Q53SP3|Q5GM69|Q8N6M1|Q96LQ2	Missense_Mutation	SNP	ENST00000428443.3	hg19	CCDS33338.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.399544	0.83120	.	.	ENSG00000187231	ENST00000428443	T	0.35048	1.33	6.0	6.0	0.97389	.	0.000000	0.85682	D	0.000000	T	0.37128	0.0992	N	0.14661	0.345	0.80722	D	1	D	0.53885	0.963	P	0.55785	0.784	T	0.15925	-1.0420	9	.	.	.	-13.1246	16.5156	0.84299	0.0:0.0:0.0:1.0	.	322	Q86VW0	SESD1_HUMAN	P	322	ENSP00000415332:Q322P	.	Q	-	2	0	SESTD1	179705283	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.102000	0.71486	2.291000	0.77112	0.519000	0.50382	CAG		0.478	SESTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335916.2	NM_178123		G	179997038	T	G	179997038	3	3	806	1	0	0	0	0	1	0	0	0	14133	1580	55	5	1161	5	SESTD1	2	179997038	Missense_Mutation	SNP	T	TCGA-UZ-A9PS-01A-11D-A42J-10	43600683	179997038	63202335	20	48136											
CERKL	375298	hgsc.bcm.edu	37	2	182468798	182468798	+	Nonsense_Mutation	SNP	T	T	A			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr2:182468798T>A	ENST00000339098.5	-	2	246	c.247A>T	c.(247-249)Aag>Tag	p.K83*	CERKL_ENST00000410087.3_Nonsense_Mutation_p.K83*|CERKL_ENST00000374970.2_Nonsense_Mutation_p.K83*|CERKL_ENST00000374969.2_Nonsense_Mutation_p.K83*|CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000409440.3_Nonsense_Mutation_p.K83*			Q49MI3	CERKL_HUMAN	ceramide kinase-like	83					negative regulation of apoptotic process (GO:0043066)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			AAGTCATACTTAGAATCACCT	0.363																																																0													37	37	37					2																	182468798		2201	4294	6495	SO:0001587	stop_gained	375298			BC020465	CCDS33340.1, CCDS33341.1, CCDS42789.1, CCDS46466.1, CCDS54425.1	2q31.3	2005-01-04			ENSG00000188452	ENSG00000188452			21699	protein-coding gene	gene with protein product			"retinitis pigmentosa 26 (autosomal recessive)"	RP26		14681825	Standard	NR_027689		Approved		uc002uny.3	Q49MI3	OTTHUMG00000154315	ENST00000339098.5:c.247A>T	chr2.hg19:g.182468798T>A	ENSP00000341159:p.Lys83*		B2RPL2|B4DEY1|Q49MH9|Q49MI0|Q49MI1|Q49MI2|Q5DVJ2|Q5DVJ4|Q5DVJ5|Q6UZF6|Q6ZP59	Nonsense_Mutation	SNP	ENST00000339098.5	hg19	CCDS42789.1	.	.	.	.	.	.	.	.	.	.	T	15.06	2.720717	0.48728	.	.	ENSG00000188452	ENST00000410087;ENST00000409440;ENST00000374969;ENST00000339098;ENST00000374970	.	.	.	5.4	2.99	0.34606	.	0.821591	0.10973	N	0.613588	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.9745	0.64262	0.0:0.0:0.236:0.764	.	.	.	.	X	83	.	ENSP00000341159:K83X	K	-	1	0	CERKL	182177043	0.982000	0.34865	0.014000	0.15608	0.524000	0.34500	1.038000	0.30254	0.033000	0.15463	-1.333000	0.01266	AAG		0.363	CERKL-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334811.1			A	182468798	T	A	182468798	4	1	806	1	0	0	0	0	0	1	0	0	3270	1763	61	5	1481	5	CERKL	2	182468798	Nonsense_Mutation	SNP	T	TCGA-UZ-A9PS-01A-11D-A42J-10	2471760	182468798	60730575	21	48137											
ZSWIM2	151112	hgsc.bcm.edu	37	2	187703706	187703706	+	Frame_Shift_Del	DEL	C	C	-			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr2:187703706delC	ENST00000295131.2	-	4	513	c.474delG	c.(472-474)aagfs	p.K158fs		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	158					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)			TGACAGGAAGCTTTTTCTCTA	0.308																																																0													150	154	153					2																	187703706		2203	4299	6502	SO:0001589	frameshift_variant	151112			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.474delG	chr2.hg19:g.187703706delC	ENSP00000295131:p.Lys158fs		B3KXV6|Q53SI3|Q57ZY3	Frame_Shift_Del	DEL	ENST00000295131.2	hg19	CCDS33348.1																																																																																				0.308	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334565.1	NM_182521		-	187703706	C	-	187703706	7	5	806	1	0	1	0	1	0	0	0	0	18246	796	28	0	1451	0	ZSWIM2	2	187703706	Frame_Shift_Del	DEL	C	TCGA-UZ-A9PS-01A-11D-A42J-10	5234908	187703706	55495667	22	48138											
EPHA4	2043	hgsc.bcm.edu	37	2	222321422	222321422	+	Frame_Shift_Del	DEL	G	G	-			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr2:222321422delG	ENST00000281821.2	-	7	1555	c.1514delC	c.(1513-1515)cctfs	p.P505fs	EPHA4_ENST00000409854.1_Frame_Shift_Del_p.P505fs|EPHA4_ENST00000392071.4_Frame_Shift_Del_p.P454fs|EPHA4_ENST00000409938.1_Frame_Shift_Del_p.P505fs	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	505	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)		GGAAGTGAGAGGGTTCAGGCC	0.493																																																0													151	132	139					2																	222321422		2203	4300	6503	SO:0001589	frameshift_variant	2043			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.1514delC	chr2.hg19:g.222321422delG	ENSP00000281821:p.Pro505fs		A8K2P1|B2R601|B7Z6Q8|Q2M380	Frame_Shift_Del	DEL	ENST00000281821.2	hg19	CCDS2447.1																																																																																				0.493	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256836.3			-	222321422	G	-	222321422	7	5	806	1	0	1	0	1	0	0	0	0	5171	1000	35	0	1490	0	EPHA4	2	222321422	Frame_Shift_Del	DEL	G	TCGA-UZ-A9PS-01A-11D-A42J-10	34617716	222321422	20877951	23	48139											
TRIP12	9320	hgsc.bcm.edu	37	2	230633435	230633435	+	Splice_Site	SNP	A	A	G			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr2:230633435A>G	ENST00000283943.5	-	40	5857	c.5679T>C	c.(5677-5679)agT>agC	p.S1893S	TRIP12_ENST00000389044.4_Splice_Site_p.S1941S|TRIP12_ENST00000389045.3_Splice_Site_p.S1623S	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1893	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TCACAGCCCGACTATAACAGA	0.348																																																0													57	55	55					2																	230633435		2203	4300	6503	SO:0001630	splice_region_variant	9320			L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.5679-1T>C	chr2.hg19:g.230633435A>G			D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Silent	SNP	ENST00000283943.5	hg19	CCDS33391.1																																																																																				0.348	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238	Silent	G	230633435	A	G	230633435	5	3	806	1	0	0	0	0	0	0	1	0	16561	289	10	3	307	3	TRIP12	2	230633435	Splice_Site	SNP	A	TCGA-UZ-A9PS-01A-11D-A42J-10	8312013	230633435	12565938	24	48140											
TRIP12	9320	hgsc.bcm.edu	37	2	230663701	230663701	+	Silent	SNP	T	T	C			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr2:230663701T>C	ENST00000283943.5	-	22	3325	c.3147A>G	c.(3145-3147)acA>acG	p.T1049T	TRIP12_ENST00000389044.4_Silent_p.T1097T|TRIP12_ENST00000389045.3_Silent_p.T779T|TRIP12_ENST00000543084.1_3'UTR	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1049					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)		ACCTTCCCCATGTTTTTGGAT	0.458																																																0													160	153	155					2																	230663701		2203	4300	6503	SO:0001819	synonymous_variant	9320			L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.3147A>G	chr2.hg19:g.230663701T>C			D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Silent	SNP	ENST00000283943.5	hg19	CCDS33391.1																																																																																				0.458	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		C	230663701	T	C	230663701	2	2	806	1	0	0	0	0	0	0	0	1	16561	1451	51	3		3	TRIP12	2	230663701	Silent	SNP	T	TCGA-UZ-A9PS-01A-11D-A42J-10	30266	230663701	12535672	25	48141											
PER2	8864	hgsc.bcm.edu	37	2	239167228	239167228	+	Missense_Mutation	SNP	C	C	G	rs202103918		TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr2:239167228C>G	ENST00000254657.3	-	15	1964	c.1685G>C	c.(1684-1686)aGc>aCc	p.S562T	AC096574.4_ENST00000456601.1_RNA|PER2_ENST00000254658.3_3'UTR	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	562	CSNK1E binding domain. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GACCCCCAGGCTGTCCTTTTC	0.527																																																0													62	58	59					2																	239167228		2203	4300	6503	SO:0001583	missense	8864			AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"period (Drosophila) homolog 2", "period homolog 2 (Drosophila)"			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.1685G>C	chr2.hg19:g.239167228C>G	ENSP00000254657:p.Ser562Thr		A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Missense_Mutation	SNP	ENST00000254657.3	hg19	CCDS2528.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.752339	0.31046	.	.	ENSG00000132326	ENST00000254657	T	0.11712	2.75	4.79	4.79	0.61399	.	.	.	.	.	T	0.27697	0.0681	L	0.58428	1.81	0.80722	D	1	P;B	0.52842	0.956;0.168	D;B	0.65010	0.931;0.018	T	0.00440	-1.1738	9	0.42905	T	0.14	-18.6957	15.7283	0.77780	0.0:1.0:0.0:0.0	.	562;562	B4DH14;O15055	.;PER2_HUMAN	T	562	ENSP00000254657:S562T	ENSP00000254657:S562T	S	-	2	0	PER2	238831967	0.009000	0.17119	0.973000	0.42090	0.026000	0.11368	1.058000	0.30504	2.391000	0.81399	0.555000	0.69702	AGC		0.527	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	NM_022817		G	239167228	C	G	239167228	3	3	806	1	0	0	0	0	1	0	0	0	11732	797	28	4	2118	4	PER2	2	239167228	Missense_Mutation	SNP	C	TCGA-UZ-A9PS-01A-11D-A42J-10	8503527	239167228	4032145	26	48142											
THAP4	51078	hgsc.bcm.edu	37	2	242541346	242541347	+	Silent	DNP	TG	TG	GC			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	T|G	T|G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr2:242541346_242541347TG>GC	ENST00000407315.1	-	5	2009_2010	c.1578_1579CA>GC	c.(1576-1581)gcCAgg>gcGCgg	p.526_527AR>AR	THAP4_ENST00000402136.1_Silent_p.114_115AR>AR|THAP4_ENST00000402545.1_Silent_p.114_115AR>AR|THAP4_ENST00000497486.1_5'UTR	NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	526							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		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;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-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;0.0844)		AAGGAGATCCTGGCGATGGAGT	0.639																																																0																																										SO:0001819	synonymous_variant	51078			AF258556	CCDS2551.1, CCDS54440.1	2q37.3	2013-01-25			ENSG00000176946	ENSG00000176946		"THAP (C2CH-type zinc finger) domain containing"	23187	protein-coding gene	gene with protein product		612533				12575992, 10810093	Standard	NM_015963		Approved	CGI-36	uc002wbt.3	Q8WY91	OTTHUMG00000133410	ENST00000407315.1:c.1578_1579delinsGC	chr2.hg19:g.242541346_242541347delinsGC			Q53NU7|Q6GRN0|Q6IPJ3|Q9NW26|Q9Y325	Silent	SNP	ENST00000407315.1	hg19	CCDS2551.1																																																																																				0.639	THAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257267.3	NM_015963		GC	242541347	TG	GC	242541346	2	3	806	1	0	0	0	0	0	0	0	1	15851	1579	55	5		5	THAP4	2	242541346	Silent	DNP	TG	TCGA-UZ-A9PS-01A-11D-A42J-10	3374118	242541346	658027	27	48143											
CNTN6	27255	hgsc.bcm.edu	37	3	1424987	1424987	+	Silent	SNP	G	G	A			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr3:1424987G>A	ENST00000446702.2	+	19	3039	c.2412G>A	c.(2410-2412)ctG>ctA	p.L804L	CNTN6_ENST00000539053.1_Silent_p.L732L|CNTN6_ENST00000350110.2_Silent_p.L804L			Q9UQ52	CNTN6_HUMAN	contactin 6	804					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)		AACCTCAACTGGCCCCAAGGG	0.438																																																0													186	193	191					3																	1424987		2203	4300	6503	SO:0001819	synonymous_variant	27255			AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	2176	protein-coding gene	gene with protein product	"neural adhesion molecule"	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.2412G>A	chr3.hg19:g.1424987G>A			Q2KHM2	Silent	SNP	ENST00000446702.2	hg19	CCDS2557.1																																																																																				0.438	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		A	1424987	G	A	1424987	2	1	806	1	0	0	0	0	0	0	0	1	3647	1335	47	2		2	CNTN6	3	1424987	Silent	SNP	G	TCGA-UZ-A9PS-01A-11D-A42J-10		1424987	196597443	28	48144											
ZNF385D	79750	hgsc.bcm.edu	37	3	21478596	21478596	+	Missense_Mutation	SNP	C	C	T	rs368223028		TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr3:21478596C>T	ENST00000281523.2	-	5	1057	c.539G>A	c.(538-540)aGc>aAc	p.S180N	ZNF385D_ENST00000494118.1_5'UTR	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	180	Thr-rich.					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						TGTCGTTGGGCTTTTTTCCAC	0.478																																																0													174	155	162					3																	21478596		2203	4300	6503	SO:0001583	missense	79750			BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"zinc finger protein 659"	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.539G>A	chr3.hg19:g.21478596C>T	ENSP00000281523:p.Ser180Asn			Missense_Mutation	SNP	ENST00000281523.2	hg19	CCDS2636.1	.	.	.	.	.	.	.	.	.	.	C	13.12	2.143723	0.37825	.	.	ENSG00000151789	ENST00000281523	T	0.45276	0.9	6.09	4.22	0.49857	.	0.295113	0.41194	D	0.000939	T	0.22859	0.0552	L	0.27053	0.805	0.24203	N	0.995504	B	0.22276	0.067	B	0.19391	0.025	T	0.06303	-1.0834	10	0.21014	T	0.42	-5.7655	2.7247	0.05210	0.1956:0.534:0.1249:0.1455	.	180	Q9H6B1	Z385D_HUMAN	N	180	ENSP00000281523:S180N	ENSP00000281523:S180N	S	-	2	0	ZNF385D	21453600	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	2.076000	0.41548	2.891000	0.99171	0.655000	0.94253	AGC		0.478	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	NM_024697		T	21478596	C	T	21478596	3	4	806	1	0	0	0	0	1	0	0	0	17883	797	28	2	664	2	ZNF385D	3	21478596	Missense_Mutation	SNP	C	TCGA-UZ-A9PS-01A-11D-A42J-10	20053609	21478596	176543834	29	48145											
USP4	7375	hgsc.bcm.edu	37	3	49315762	49315762	+	Frame_Shift_Del	DEL	A	A	-			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr3:49315762delA	ENST00000265560.4	-	22	2902	c.2856delT	c.(2854-2856)tttfs	p.F952fs	USP4_ENST00000351842.4_Frame_Shift_Del_p.F905fs|C3orf62_ENST00000343010.3_5'Flank	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	952					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)		CATCATCCCCAAAGCCCTGCT	0.507																																																0													120	118	119					3																	49315762		2203	4300	6503	SO:0001589	frameshift_variant	7375			U20657	CCDS2793.1, CCDS2794.1, CCDS58832.1	3p21.3	2005-10-11	2005-08-08		ENSG00000114316	ENSG00000114316		"Ubiquitin-specific peptidases"	12627	protein-coding gene	gene with protein product		603486	"ubiquitin specific protease 4 (proto-oncogene)"	UNP		12838346, 9464533	Standard	NM_199443		Approved	Unph	uc003cwq.2	Q13107	OTTHUMG00000156825	ENST00000265560.4:c.2856delT	chr3.hg19:g.49315762delA	ENSP00000265560:p.Phe952fs		A8K6Y0|C9IY91|O43452|O43453|Q08AK8	Frame_Shift_Del	DEL	ENST00000265560.4	hg19	CCDS2793.1																																																																																				0.507	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346069.1	NM_199443		-	49315762	A	-	49315762	7	5	806	1	0	1	0	1	0	0	0	0	17076	127	5	0	39	0	USP4	3	49315762	Frame_Shift_Del	DEL	A	TCGA-UZ-A9PS-01A-11D-A42J-10	27837166	49315762	148706668	30	48146											
AMT	275	hgsc.bcm.edu	37	3	49456530	49456530	+	Missense_Mutation	SNP	G	G	C			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr3:49456530G>C	ENST00000273588.3	-	7	1053	c.751C>G	c.(751-753)Cca>Gca	p.P251A	AMT_ENST00000546031.1_Missense_Mutation_p.P154A|AMT_ENST00000395338.2_Missense_Mutation_p.P251A|AMT_ENST00000538581.1_Missense_Mutation_p.P195A|AMT_ENST00000458307.2_Missense_Mutation_p.P207A|AMT_ENST00000476226.1_5'UTR	NM_000481.3	NP_000472.2	P48728	GCST_HUMAN	aminomethyltransferase	251					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)	TTCACCTCTGGGTTTTTCAGA	0.572																																																0													44	46	45					3																	49456530		2203	4300	6503	SO:0001583	missense	275			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.751C>G	chr3.hg19:g.49456530G>C	ENSP00000273588:p.Pro251Ala		A8K3I5|B4DE61|B4DJQ0|E9PBG1|Q96IG6	Missense_Mutation	SNP	ENST00000273588.3	hg19	CCDS2797.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.07|11.07	1.531135|1.531135	0.27387|0.27387	.|.	.|.	ENSG00000145020|ENSG00000145020	ENST00000395338;ENST00000458307;ENST00000273588;ENST00000538581;ENST00000546031;ENST00000430521|ENST00000427987	T;T;T;T;T;T|.	0.74315|.	-0.83;-0.83;-0.83;-0.83;-0.83;-0.83|.	5.28|5.28	1.06|1.06	0.20224|0.20224	Glycine cleavage T-protein, N-terminal (1);|.	0.317346|0.317346	0.36134|0.36134	N|N	0.002773|0.002773	T|T	0.22126|0.22126	0.0533|0.0533	N|N	0.13352|0.13352	0.335|0.335	0.32666|0.32666	N|N	0.517387|0.517387	B;B;B;B|.	0.16166|.	0.001;0.016;0.001;0.001|.	B;B;B;B|.	0.21360|.	0.003;0.034;0.003;0.003|.	T|T	0.17806|0.17806	-1.0357|-1.0357	10|6	0.24483|.	T|.	0.36|.	-15.0969|-15.0969	4.9721|4.9721	0.14121|0.14121	0.1775:0.0:0.5332:0.2893|0.1775:0.0:0.5332:0.2893	.|.	195;207;251;251|.	B4DE61;B4DJQ0;E9PBG1;P48728|.	.;.;.;GCST_HUMAN|.	A|R	251;207;251;195;154;195|248	ENSP00000378747:P251A;ENSP00000415619:P207A;ENSP00000273588:P251A;ENSP00000443200:P195A;ENSP00000440672:P154A;ENSP00000388068:P195A|.	ENSP00000273588:P251A|.	P|P	-|-	1|2	0|0	AMT|AMT	49431534|49431534	1.000000|1.000000	0.71417|0.71417	0.958000|0.958000	0.39756|0.39756	0.720000|0.720000	0.41350|0.41350	1.685000|1.685000	0.37659|0.37659	0.618000|0.618000	0.30179|0.30179	-0.136000|-0.136000	0.14681|0.14681	CCA|CCC		0.572	AMT-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346216.2	NM_000481		C	49456530	G	C	49456530	3	2	806	1	0	0	0	0	1	0	0	0	589	1232	43	4	500	4	AMT	3	49456530	Missense_Mutation	SNP	G	TCGA-UZ-A9PS-01A-11D-A42J-10	140768	49456530	148565900	31	48147											
GNAI2	2771	hgsc.bcm.edu	37	3	50294444	50294444	+	Missense_Mutation	SNP	C	C	A			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr3:50294444C>A	ENST00000313601.6	+	7	1183	c.799C>A	c.(799-801)Ctc>Atc	p.L267I	GNAI2_ENST00000451956.1_Missense_Mutation_p.L230I|GNAI2_ENST00000536647.1_Missense_Mutation_p.L186I|GNAI2_ENST00000440628.1_Missense_Mutation_p.L215I|GNAI2_ENST00000491100.1_3'UTR|GNAI2_ENST00000422163.1_Missense_Mutation_p.L251I|GNAI2_ENST00000266027.5_Missense_Mutation_p.L251I	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2	267					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)		GTCCATCATCCTCTTCCTCAA	0.507											OREG0015582	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													186	157	166					3																	50294444		2203	4300	6503	SO:0001583	missense	2771			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.799C>A	chr3.hg19:g.50294444C>A	ENSP00000312999:p.Leu267Ile	968	B3KTZ0|B4DYA0|B4E2X5|Q6B6N3|Q8IZ71	Missense_Mutation	SNP	ENST00000313601.6	hg19	CCDS2813.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.933965	0.92458	.	.	ENSG00000114353	ENST00000422163;ENST00000313601;ENST00000536647;ENST00000540560;ENST00000440628;ENST00000451956;ENST00000266027	D;D;D;D;D;D	0.95788	-3.81;-3.81;-3.81;-3.81;-3.81;-3.81	4.48	4.48	0.54585	.	0.000000	0.85682	D	0.000000	D	0.98235	0.9416	H	0.94964	3.605	0.80722	D	1	P;P;D;D	0.56968	0.939;0.949;0.978;0.973	D;D;D;D	0.73380	0.954;0.98;0.954;0.923	D	0.99032	1.0821	10	0.87932	D	0	.	15.0562	0.71915	0.0:1.0:0.0:0.0	.	230;267;251;251	B4DYA0;P04899;B3KTZ0;P04899-2	.;GNAI2_HUMAN;.;.	I	251;267;186;267;215;230;251	ENSP00000406871:L251I;ENSP00000312999:L267I;ENSP00000444360:L186I;ENSP00000395736:L215I;ENSP00000406369:L230I;ENSP00000266027:L251I	ENSP00000266027:L251I	L	+	1	0	GNAI2	50269448	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.604000	0.82830	2.517000	0.84864	0.650000	0.86243	CTC		0.507	GNAI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346688.1	NM_002070		A	50294444	C	A	50294444	3	1	806	1	0	0	0	0	1	0	0	0	6507	681	24	4	836	4	GNAI2	3	50294444	Missense_Mutation	SNP	C	TCGA-UZ-A9PS-01A-11D-A42J-10	837914	50294444	147727986	32	48148											
STAB1	23166	hgsc.bcm.edu	37	3	52551367	52551367	+	Silent	SNP	C	C	T			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr3:52551367C>T	ENST00000321725.6	+	43	4597	c.4521C>T	c.(4519-4521)ggC>ggT	p.G1507G		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1507	EGF-like 12. {ECO:0000255|PROSITE- ProRule:PRU00076, 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)		ACCACGGGGGCTGCCACATTC	0.617																																																0													42	44	43					3																	52551367		2203	4299	6502	SO:0001819	synonymous_variant	23166			AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"MS-1 antigen", "fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1", "common lymphatic endothelial and vascular endothelial receptor-1"	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.4521C>T	chr3.hg19:g.52551367C>T			A7E297|Q8IUH0|Q8IUH1|Q93072	Silent	SNP	ENST00000321725.6	hg19	CCDS33768.1																																																																																				0.617	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		T	52551367	C	T	52551367	2	4	806	1	0	0	0	0	0	0	0	1	15242	784	28	2		2	STAB1	3	52551367	Silent	SNP	C	TCGA-UZ-A9PS-01A-11D-A42J-10	2256923	52551367	145471063	33	48149											
ZBTB11	27107	hgsc.bcm.edu	37	3	101371385	101371385	+	Missense_Mutation	SNP	A	A	C			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr3:101371385A>C	ENST00000312938.4	-	10	3179	c.2599T>G	c.(2599-2601)Ttc>Gtc	p.F867V		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	867					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						AGCTGAGTGAATTTTCTTCCA	0.373																																																0													160	164	162					3																	101371385		2202	4300	6502	SO:0001583	missense	27107			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.2599T>G	chr3.hg19:g.101371385A>C	ENSP00000326200:p.Phe867Val		Q2NKP9	Missense_Mutation	SNP	ENST00000312938.4	hg19	CCDS2943.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.202625	0.79127	.	.	ENSG00000066422	ENST00000312938	T	0.73469	-0.75	5.29	4.14	0.48551	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	0.61776	0.2374	N	0.19112	0.55	0.80722	D	1	P	0.41393	0.748	B	0.41374	0.355	T	0.65096	-0.6251	10	0.87932	D	0	-10.2042	11.1725	0.48579	0.9276:0.0:0.0724:0.0	.	867	O95625	ZBT11_HUMAN	V	867	ENSP00000326200:F867V	ENSP00000326200:F867V	F	-	1	0	ZBTB11	102854075	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	7.100000	0.76989	0.958000	0.37956	0.528000	0.53228	TTC		0.373	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353441.2	NM_014415		C	101371385	A	C	101371385	3	2	806	1	0	0	0	0	1	0	0	0	17529	101	4	5	570	5	ZBTB11	3	101371385	Missense_Mutation	SNP	A	TCGA-UZ-A9PS-01A-11D-A42J-10	48820018	101371385	96651045	34	48150	517	2									
ZBTB11	27107	hgsc.bcm.edu	37	3	101371390	101371390	+	Missense_Mutation	SNP	C	C	T			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr3:101371390C>T	ENST00000312938.4	-	10	3174	c.2594G>A	c.(2593-2595)aGa>aAa	p.R865K		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	865					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						AGTGAATTTTCTTCCACATTT	0.368																																																0													159	163	161					3																	101371390		2202	4300	6502	SO:0001583	missense	27107			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.2594G>A	chr3.hg19:g.101371390C>T	ENSP00000326200:p.Arg865Lys		Q2NKP9	Missense_Mutation	SNP	ENST00000312938.4	hg19	CCDS2943.1	.	.	.	.	.	.	.	.	.	.	C	10.25	1.297368	0.23650	.	.	ENSG00000066422	ENST00000312938	T	0.38722	1.12	5.29	3.5	0.40072	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.048362	0.85682	N	0.000000	T	0.18173	0.0436	N	0.08118	0	0.80722	D	1	B	0.09022	0.002	B	0.10450	0.005	T	0.13791	-1.0496	10	0.02654	T	1	-12.5319	9.1783	0.37125	0.0:0.7777:0.0:0.2223	.	865	O95625	ZBT11_HUMAN	K	865	ENSP00000326200:R865K	ENSP00000326200:R865K	R	-	2	0	ZBTB11	102854080	1.000000	0.71417	0.992000	0.48379	0.981000	0.71138	3.794000	0.55492	0.721000	0.32231	0.650000	0.86243	AGA		0.368	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353441.2	NM_014415		T	101371390	C	T	101371390	3	4	806	1	0	0	0	0	1	0	0	0	17529	913	32	2	575	2	ZBTB11	3	101371390	Missense_Mutation	SNP	C	TCGA-UZ-A9PS-01A-11D-A42J-10	5	101371390	96651040	35	48151	517	2									
ACAP2	23527	hgsc.bcm.edu	37	3	195000100	195000100	+	Missense_Mutation	SNP	G	G	T			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr3:195000100G>T	ENST00000326793.6	-	23	2524	c.2294C>A	c.(2293-2295)cCa>cAa	p.P765Q	ACAP2_ENST00000472860.1_5'UTR|ACAP2-IT1_ENST00000419899.1_RNA	NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	765					cellular response to nerve growth factor stimulus (GO:1990090)|protein localization to endosome (GO:0036010)|regulation of ARF GTPase activity (GO:0032312)	endosome membrane (GO:0010008)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						TAGTTTCTCTGGATTATTGGA	0.318																																																0													64	68	67					3																	195000100		2203	4291	6494	SO:0001583	missense	23527				CCDS33924.1	3q29	2013-01-10	2008-09-22	2008-09-22	ENSG00000114331	ENSG00000114331		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16469	protein-coding gene	gene with protein product		607766	"centaurin, beta 2"	CENTB2		11050434, 11062263	Standard	NM_012287		Approved	KIAA0041, CNT-B2	uc003fun.4	Q15057	OTTHUMG00000155885	ENST00000326793.6:c.2294C>A	chr3.hg19:g.195000100G>T	ENSP00000324287:p.Pro765Gln		A8K2V4|Q8N5Z8|Q9UQR3	Missense_Mutation	SNP	ENST00000326793.6	hg19	CCDS33924.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.871995	0.91587	.	.	ENSG00000114331	ENST00000326793	T	0.47528	0.84	6.02	6.02	0.97574	.	0.113510	0.64402	D	0.000009	T	0.74253	0.3692	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76767	-0.2838	10	0.87932	D	0	.	19.5352	0.95251	0.0:0.0:1.0:0.0	.	765	Q15057	ACAP2_HUMAN	Q	765	ENSP00000324287:P765Q	ENSP00000324287:P765Q	P	-	2	0	ACAP2	196481389	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.133000	0.94460	2.850000	0.98022	0.650000	0.86243	CCA		0.318	ACAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342126.2	NM_012287		T	195000100	G	T	195000100	3	4	806	1	0	0	0	0	1	0	0	0	119	1348	47	4	46	4	ACAP2	3	195000100	Missense_Mutation	SNP	G	TCGA-UZ-A9PS-01A-11D-A42J-10	93628710	195000100	3022330	36	48152											
LRRC66	339977	hgsc.bcm.edu	37	4	52861134	52861134	+	Missense_Mutation	SNP	T	T	A			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr4:52861134T>A	ENST00000343457.3	-	4	2060	c.2054A>T	c.(2053-2055)gAa>gTa	p.E685V		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	685						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						CTGCACTGGTTCCTTGTTAGC	0.517																																																0													87	84	85					4																	52861134		2004	4173	6177	SO:0001583	missense	339977			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.2054A>T	chr4.hg19:g.52861134T>A	ENSP00000341944:p.Glu685Val			Missense_Mutation	SNP	ENST00000343457.3	hg19	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	T	14.83	2.651422	0.47362	.	.	ENSG00000188993	ENST00000343457	T	0.36340	1.26	4.37	-0.899	0.10547	.	0.798338	0.10965	N	0.614504	T	0.23886	0.0578	L	0.36672	1.1	0.09310	N	1	P	0.50943	0.94	B	0.40982	0.345	T	0.15636	-1.0430	10	0.87932	D	0	-3.7352	4.4438	0.11588	0.0:0.2796:0.1775:0.5428	.	685	Q68CR7	LRC66_HUMAN	V	685	ENSP00000341944:E685V	ENSP00000341944:E685V	E	-	2	0	LRRC66	52555891	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.196000	0.17176	-0.214000	0.10078	-0.250000	0.11733	GAA		0.517	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611		A	52861134	T	A	52861134	3	1	806	1	0	0	0	0	1	0	0	0	9020	1783	62	5	592	5	LRRC66	4	52861134	Missense_Mutation	SNP	T	TCGA-UZ-A9PS-01A-11D-A42J-10		52861134	138293142	37	48153											
MOBKL1A	92597	hgsc.bcm.edu	37	4	71844887	71844887	+	Missense_Mutation	SNP	T	T	C			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr4:71844887T>C	ENST00000309395.2	+	5	653	c.452T>C	c.(451-453)aTa>aCa	p.I151T	MOB1B_ENST00000396051.2_Missense_Mutation_p.I156T|MOB1B_ENST00000511449.1_Intron	NM_001244766.1|NM_173468.3	NP_001231695.1|NP_775739.1	Q7L9L4	MOB1B_HUMAN	MOB kinase activator 1B	151					hippo signaling (GO:0035329)|positive regulation of phosphorylation (GO:0042327)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	kinase activator activity (GO:0019209)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)										GCAAAAACTATACTCAAACGC	0.398																																																0													158	157	157					4																	71844887		2203	4300	6503	SO:0001583	missense	92597			BC038112	CCDS34002.1, CCDS58903.1	4q13.3	2011-09-28	2011-09-28	2011-09-27	ENSG00000173542	ENSG00000173542		"MOB kinase activators"	29801	protein-coding gene	gene with protein product	"Mob4A protein"	609282	"MOB1, Mps One Binder kinase activator-like 1A (yeast)", "MOB1 Mps One Binder homolog B (yeast)"	MOBKL1A		15067004	Standard	NM_173468		Approved	MOB4A	uc003hfw.3	Q7L9L4	OTTHUMG00000160844	ENST00000309395.2:c.452T>C	chr4.hg19:g.71844887T>C	ENSP00000310189:p.Ile151Thr		B2R8U6|B4DRY3|Q8IY23	Missense_Mutation	SNP	ENST00000309395.2	hg19	CCDS34002.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.520487	0.85495	.	.	ENSG00000173542	ENST00000309395;ENST00000396051	.	.	.	5.26	5.26	0.73747	.	0.044863	0.85682	D	0.000000	D	0.86952	0.6057	H	0.95745	3.715	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	D	0.90963	0.4814	9	0.87932	D	0	-46.1108	15.1665	0.72833	0.0:0.0:0.0:1.0	.	156;151	B4DRY3;Q7L9L4	.;MOB1B_HUMAN	T	151;156	.	ENSP00000310189:I151T	I	+	2	0	MOBKL1A	72063751	1.000000	0.71417	0.997000	0.53966	0.978000	0.69477	8.040000	0.89188	1.984000	0.57885	0.459000	0.35465	ATA		0.398	MOB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362634.1	NM_173468		C	71844887	T	C	71844887	3	2	806	1	0	0	0	0	1	0	0	0	9684	1406	49	3	470	3	MOBKL1A	4	71844887	Missense_Mutation	SNP	T	TCGA-UZ-A9PS-01A-11D-A42J-10	18983753	71844887	119309389	38	48154											
SHROOM3	57619	hgsc.bcm.edu	37	4	77680809	77680809	+	Silent	SNP	G	G	T			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr4:77680809G>T	ENST00000296043.6	+	9	6263	c.5310G>T	c.(5308-5310)gtG>gtT	p.V1770V	RP11-359D14.2_ENST00000452412.1_RNA|RP11-359D14.3_ENST00000449007.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1770	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)			CAGCAGAAGTGAATGAGGAAG	0.448																																																0													111	93	99					4																	77680809		2203	4300	6503	SO:0001819	synonymous_variant	57619			AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.5310G>T	chr4.hg19:g.77680809G>T			Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Silent	SNP	ENST00000296043.6	hg19	CCDS3579.2																																																																																				0.448	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		T	77680809	G	T	77680809	2	4	806	1	0	0	0	0	0	0	0	1	14301	1277	45	4		4	SHROOM3	4	77680809	Silent	SNP	G	TCGA-UZ-A9PS-01A-11D-A42J-10	5835922	77680809	113473467	39	48155											
FRAS1	80144	hgsc.bcm.edu	37	4	79188585	79188585	+	Splice_Site	SNP	G	G	T			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr4:79188585G>T	ENST00000325942.6	+	9	1420	c.980G>T	c.(979-981)cGg>cTg	p.R327L	FRAS1_ENST00000264895.6_Splice_Site_p.R327L|FRAS1_ENST00000264899.6_Splice_Site_p.R327L	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	327	VWFC 5. {ECO:0000255|PROSITE- ProRule:PRU00220}.				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						GAGTGTGCCCGGGTAAGAAGC	0.547																																																0													55	59	58					4																	79188585		2046	4189	6235	SO:0001630	splice_region_variant	80144			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.981+1G>T	chr4.hg19:g.79188585G>T			A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000325942.6	hg19	CCDS54772.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	6.298|6.298	0.423096|0.423096	0.11928|0.11928	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000502446|ENST00000325942;ENST00000264895;ENST00000264899;ENST00000534913	.|T;T;T	.|0.71698	.|-0.59;-0.59;-0.59	5.19|5.19	-10.3|-10.3	0.00346|0.00346	.|von Willebrand factor, type C (4);	.|0.722452	.|0.13283	.|N	.|0.399620	T|T	0.39517|0.39517	0.1081|0.1081	N|N	0.12961|0.12961	0.28|0.28	0.22066|0.22066	N|N	0.999381|0.999381	.|B;B;B;B	.|0.09022	.|0.0;0.0;0.001;0.002	.|B;B;B;B	.|0.13407	.|0.007;0.007;0.005;0.009	T|T	0.11036|0.11036	-1.0604|-1.0604	5|10	.|0.33940	.|T	.|0.23	.|.	4.1729|4.1729	0.10337|0.10337	0.3378:0.0883:0.4013:0.1726|0.3378:0.0883:0.4013:0.1726	.|.	.|327;327;327;327	.|E9PHH6;Q86XX4;E7EWM9;A2RRR8	.|.;FRAS1_HUMAN;.;.	W|L	256|327;327;327;67	.|ENSP00000326330:R327L;ENSP00000264895:R327L;ENSP00000264899:R327L	.|ENSP00000264895:R327L	G|R	+|+	1|2	0|0	FRAS1|FRAS1	79407609|79407609	0.003000|0.003000	0.15002|0.15002	0.337000|0.337000	0.25536|0.25536	0.014000|0.014000	0.08584|0.08584	-0.399000|-0.399000	0.07250|0.07250	-2.237000|-2.237000	0.00712|0.00712	-3.042000|-3.042000	0.00070|0.00070	GGG|CGG		0.547	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2		Missense_Mutation	T	79188585	G	T	79188585	5	4	806	1	0	0	0	0	0	0	1	0	6044	1130	39	4	1014	4	FRAS1	4	79188585	Splice_Site	SNP	G	TCGA-UZ-A9PS-01A-11D-A42J-10	1507776	79188585	111965691	40	48156											
ANK2	287	hgsc.bcm.edu	37	4	114279656	114279656	+	Frame_Shift_Del	DEL	T	T	-			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr4:114279656delT	ENST00000357077.4	+	38	9935	c.9882delT	c.(9880-9882)aatfs	p.N3294fs	ANK2_ENST00000264366.6_Frame_Shift_Del_p.N3261fs|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3294					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)		CCATGGAGAATGTGCCTTTTA	0.453																																																0													105	100	102					4																	114279656		2203	4300	6503	SO:0001589	frameshift_variant	287			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.9882delT	chr4.hg19:g.114279656delT	ENSP00000349588:p.Asn3294fs		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Frame_Shift_Del	DEL	ENST00000357077.4	hg19	CCDS3702.1																																																																																				0.453	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		-	114279656	T	-	114279656	7	5	806	1	0	1	0	1	0	0	0	0	621	1461	51	0	10097	0	ANK2	4	114279656	Frame_Shift_Del	DEL	T	TCGA-UZ-A9PS-01A-11D-A42J-10	35091071	114279656	76874620	41	48157											
NDST4	64579	hgsc.bcm.edu	37	4	115749045	115749046	+	Frame_Shift_Ins	INS	-	-	G			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr4:115749045_115749046insG	ENST00000264363.2	-	14	3223_3224	c.2545_2546insC	c.(2545-2547)ctafs	p.L849fs		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	849	Heparan sulfate N-sulfotransferase 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)		CAGTTTGGATAGTTCCACATTA	0.431																																																0																																										SO:0001589	frameshift_variant	64579			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.2546dupC	chr4.hg19:g.115749046_115749046dupG	ENSP00000264363:p.Leu849fs		Q2KHM8	Frame_Shift_Ins	INS	ENST00000264363.2	hg19	CCDS3706.1																																																																																				0.431	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		G	115749046	-	G	115749045	7	5	806	1	0	1	1	0	0	0	0	0	10260	420	15	0	76	0	NDST4	4	115749045	Frame_Shift_Ins	INS	-	TCGA-UZ-A9PS-01A-11D-A42J-10	1469389	115749045	75405231	42	48158											
USP53	54532	hgsc.bcm.edu	37	4	120189437	120189437	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr4:120189437G>A	ENST00000274030.6	+	14	2329	c.1150G>A	c.(1150-1152)Gta>Ata	p.V384I	USP53_ENST00000450251.1_Missense_Mutation_p.V384I	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						TGAAAAGCCTGTAATTCATAA	0.289																																																0													49	48	49					4																	120189437		1807	4076	5883	SO:0001583	missense	54532			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.1150G>A	chr4.hg19:g.120189437G>A	ENSP00000274030:p.Val384Ile			Missense_Mutation	SNP	ENST00000274030.6	hg19	CCDS43265.1	.	.	.	.	.	.	.	.	.	.	G	5.203	0.223010	0.09863	.	.	ENSG00000145390	ENST00000274030;ENST00000450251	T;T	0.42513	0.97;0.97	5.36	-0.763	0.11030	.	0.499782	0.19980	N	0.101785	T	0.13798	0.0334	N	0.01705	-0.755	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17592	-1.0364	10	0.34782	T	0.22	0.1555	5.6415	0.17567	0.4731:0.0:0.2531:0.2738	.	384	Q70EK8	UBP53_HUMAN	I	384	ENSP00000274030:V384I;ENSP00000409906:V384I	ENSP00000274030:V384I	V	+	1	0	USP53	120408885	0.000000	0.05858	0.020000	0.16555	0.706000	0.40770	0.322000	0.19576	-0.017000	0.14103	-0.253000	0.11424	GTA		0.289	USP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364564.2	XM_052597		A	120189437	G	A	120189437	3	1	806	1	0	0	0	0	1	0	0	0	17089	1377	48	2	1188	2	USP53	4	120189437	Missense_Mutation	SNP	G	TCGA-UZ-A9PS-01A-11D-A42J-10	4440392	120189437	70964839	43	48159											
KIAA1109	84162	hgsc.bcm.edu	37	4	123159421	123159421	+	Missense_Mutation	SNP	A	A	T			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr4:123159421A>T	ENST00000264501.4	+	28	4122	c.3749A>T	c.(3748-3750)aAg>aTg	p.K1250M	KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000388738.3_Missense_Mutation_p.K1250M|KIAA1109_ENST00000455637.1_Missense_Mutation_p.K1250M			Q2LD37	K1109_HUMAN	KIAA1109	1250					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						GCTGGTGAAAAGGAAAGTCCT	0.428																																																0													140	130	133					4																	123159421		1892	4124	6016	SO:0001583	missense	84162			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.3749A>T	chr4.hg19:g.123159421A>T	ENSP00000264501:p.Lys1250Met		Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	hg19	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.21|16.21	3.059532|3.059532	0.55325|0.55325	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637|ENST00000424425	T;T;T|.	0.27557|.	2.25;2.25;1.66|.	5.68|5.68	4.49|4.49	0.54785|0.54785	.|.	0.121477|0.121477	0.31784|0.31784	U|U	0.007068|0.007068	T|T	0.29783|0.29783	0.0744|0.0744	N|N	0.19112|0.19112	0.55|0.55	0.30998|0.30998	N|N	0.720613|0.720613	P|.	0.43094|.	0.799|.	P|.	0.45946|.	0.498|.	T|T	0.28364|0.28364	-1.0046|-1.0046	10|6	0.72032|.	D|.	0.01|.	.|.	9.5739|9.5739	0.39445|0.39445	0.8588:0.0:0.1412:0.0|0.8588:0.0:0.1412:0.0	.|.	1250|.	Q2LD37|.	K1109_HUMAN|.	M|N	1250|1081	ENSP00000264501:K1250M;ENSP00000373390:K1250M;ENSP00000389925:K1250M|.	ENSP00000264501:K1250M|.	K|K	+|+	2|3	0|2	KIAA1109|KIAA1109	123378871|123378871	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.941000|0.941000	0.58515|0.58515	4.307000|4.307000	0.59123|0.59123	0.990000|0.990000	0.38787|0.38787	0.477000|0.477000	0.44152|0.44152	AAG|AAA		0.428	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		T	123159421	A	T	123159421	3	4	806	1	0	0	0	0	1	0	0	0	8210	72	3	5	3851	5	KIAA1109	4	123159421	Missense_Mutation	SNP	A	TCGA-UZ-A9PS-01A-11D-A42J-10	2969984	123159421	67994855	44	48160											
CDH10	1008	hgsc.bcm.edu	37	5	24535913	24535913	+	Frame_Shift_Del	DEL	A	A	-			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr5:24535913delA	ENST00000264463.4	-	4	1052	c.545delT	c.(544-546)gtcfs	p.V182fs		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	182	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)			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)		TGTAGCTGTGACTTGCACCAC	0.463										HNSCC(23;0.051)																																						0													107	98	101					5																	24535913		2203	4300	6503	SO:0001589	frameshift_variant	1008			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.545delT	chr5.hg19:g.24535913delA	ENSP00000264463:p.Val182fs		Q9ULB3	Frame_Shift_Del	DEL	ENST00000264463.4	hg19	CCDS3892.1																																																																																				0.463	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		-	24535913	A	-	24535913	7	5	806	1	0	1	0	1	0	0	0	0	3098	275	10	0	1857	0	CDH10	5	24535913	Frame_Shift_Del	DEL	A	TCGA-UZ-A9PS-01A-11D-A42J-10		24535913	156379347	45	48161											
GZMK	3003	hgsc.bcm.edu	37	5	54327207	54327207	+	Missense_Mutation	SNP	A	A	G			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr5:54327207A>G	ENST00000231009.2	+	4	449	c.379A>G	c.(379-381)Aaa>Gaa	p.K127E	CTD-2313F11.1_ENST00000609699.1_RNA|CTD-2313F11.1_ENST00000609792.1_RNA|CTD-2313F11.1_ENST00000595218.1_RNA|CTD-2313F11.1_ENST00000596137.1_RNA	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN	granzyme K (granzyme 3; tryptase II)	127	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			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)				AACAGCCGCAAAACTCAATAA	0.443																																																0													74	79	77					5																	54327207		2203	4300	6503	SO:0001583	missense	3003			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.379A>G	chr5.hg19:g.54327207A>G	ENSP00000231009:p.Lys127Glu		B2R563	Missense_Mutation	SNP	ENST00000231009.2	hg19	CCDS3964.1	.	.	.	.	.	.	.	.	.	.	A	6.131	0.392489	0.11638	.	.	ENSG00000113088	ENST00000231009	D	0.88664	-2.41	4.78	0.361	0.16107	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.503112	0.19871	N	0.104186	T	0.76492	0.3995	L	0.33668	1.02	0.09310	N	0.999996	B	0.02656	0.0	B	0.08055	0.003	T	0.56649	-0.7944	10	0.08837	T	0.75	.	4.6689	0.12680	0.62:0.158:0.222:0.0	.	127	P49863	GRAK_HUMAN	E	127	ENSP00000231009:K127E	ENSP00000231009:K127E	K	+	1	0	GZMK	54362964	0.033000	0.19621	0.012000	0.15200	0.341000	0.28922	1.879000	0.39618	-0.075000	0.12798	-0.316000	0.08728	AAA		0.443	GZMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214098.1	NM_002104		G	54327207	A	G	54327207	3	3	806	1	0	0	0	0	1	0	0	0	6920	15	1	3	393	3	GZMK	5	54327207	Missense_Mutation	SNP	A	TCGA-UZ-A9PS-01A-11D-A42J-10	29791294	54327207	126588053	46	48162											
MAST4	375449	hgsc.bcm.edu	37	5	66448607	66448607	+	Missense_Mutation	SNP	T	T	A			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr5:66448607T>A	ENST00000403625.2	+	25	3733	c.3438T>A	c.(3436-3438)agT>agA	p.S1146R	MAST4_ENST00000261569.7_Missense_Mutation_p.S952R|MAST4_ENST00000403666.1_Missense_Mutation_p.S957R|MAST4_ENST00000405643.1_Missense_Mutation_p.S967R|MAST4_ENST00000404260.3_Missense_Mutation_p.S1149R	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1149	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.					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)		TGATCCACAGTTCGGGGAAGA	0.532																																																0													89	90	90					5																	66448607		1970	4163	6133	SO:0001583	missense	375449			AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.3438T>A	chr5.hg19:g.66448607T>A	ENSP00000385727:p.Ser1146Arg		A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	hg19	CCDS54861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.09|14.09	2.431177|2.431177	0.43122|0.43122	.|.	.|.	ENSG00000069020|ENSG00000069020	ENST00000443808|ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569;ENST00000432399	.|T;T;T;T;T	.|0.40756	.|1.02;1.02;1.02;1.02;1.02	6.17|6.17	-3.57|-3.57	0.04612|0.04612	.|PDZ/DHR/GLGF (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.28200|0.28200	0.0696|0.0696	N|N	0.02286|0.02286	-0.61|-0.61	0.33633|0.33633	D|D	0.606291|0.606291	.|D;P	.|0.71674	.|0.998;0.712	.|D;B	.|0.79108	.|0.992;0.327	T|T	0.38693|0.38693	-0.9649|-0.9649	5|10	.|0.05620	.|T	.|0.96	-18.4408|-18.4408	14.5549|14.5549	0.68094|0.68094	0.0:0.5151:0.0:0.4849|0.0:0.5151:0.0:0.4849	.|.	.|1149;957	.|O15021;O15021-3	.|MAST4_HUMAN;.	I|R	203|1149;1146;957;967;967;952;885	.|ENSP00000385048:S1149R;ENSP00000385727:S1146R;ENSP00000384313:S957R;ENSP00000384099:S967R;ENSP00000261569:S952R	.|ENSP00000261569:S952R	F|S	+|+	1|3	0|2	MAST4|MAST4	66484363|66484363	0.699000|0.699000	0.27786|0.27786	0.769000|0.769000	0.31535|0.31535	0.947000|0.947000	0.59692|0.59692	-0.116000|-0.116000	0.10724|0.10724	-0.539000|-0.539000	0.06273|0.06273	0.533000|0.533000	0.62120|0.62120	TTC|AGT		0.532	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			A	66448607	T	A	66448607	3	1	806	1	0	0	0	0	1	0	0	0	9329	1722	60	5	3666	5	MAST4	5	66448607	Missense_Mutation	SNP	T	TCGA-UZ-A9PS-01A-11D-A42J-10	12121400	66448607	114466653	47	48163											
AGGF1	55109	hgsc.bcm.edu	37	5	76326724	76326724	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr5:76326724G>A	ENST00000312916.7	+	1	515	c.133G>A	c.(133-135)Gag>Aag	p.E45K	AGGF1_ENST00000503538.1_Intron|AGGF1_ENST00000506806.1_Missense_Mutation_p.E45K	NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	45					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|RNA processing (GO:0006396)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	nucleic acid binding (GO:0003676)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		GCAGGTGCGGGAGATCGAGAA	0.657																																																0													62	60	61					5																	76326724		2203	4300	6503	SO:0001583	missense	55109			AK001145	CCDS4035.1	5q13.3	2013-10-11			ENSG00000164252	ENSG00000164252		"G patch domain containing"	24684	protein-coding gene	gene with protein product		608464				18564129, 17103452	Standard	NM_018046		Approved	VG5Q, HSU84971, FLJ10283, GPATC7, GPATCH7	uc003ket.3	Q8N302	OTTHUMG00000102132	ENST00000312916.7:c.133G>A	chr5.hg19:g.76326724G>A	ENSP00000316109:p.Glu45Lys		O00581|Q53YS3|Q9BU84|Q9NW66	Missense_Mutation	SNP	ENST00000312916.7	hg19	CCDS4035.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.026317	0.75390	.	.	ENSG00000164252	ENST00000312916;ENST00000506806	T;T	0.79033	1.36;-1.23	4.04	4.04	0.47022	.	0.131176	0.51477	D	0.000092	T	0.63402	0.2508	N	0.24115	0.695	0.33944	D	0.643624	B;B	0.28998	0.048;0.23	B;B	0.28849	0.029;0.095	T	0.68685	-0.5343	10	0.26408	T	0.33	-20.5081	11.9022	0.52690	0.0:0.0:1.0:0.0	.	45;45	Q8N302;Q8N302-3	AGGF1_HUMAN;.	K	45	ENSP00000316109:E45K;ENSP00000424733:E45K	ENSP00000316109:E45K	E	+	1	0	AGGF1	76362480	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.934000	0.56553	2.258000	0.74832	0.555000	0.69702	GAG		0.657	AGGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219971.2	NM_018046		A	76326724	G	A	76326724	3	1	806	1	0	0	0	0	1	0	0	0	382	1175	41	2	135	2	AGGF1	5	76326724	Missense_Mutation	SNP	G	TCGA-UZ-A9PS-01A-11D-A42J-10	9878117	76326724	104588536	48	48164											
APC	324	hgsc.bcm.edu	37	5	112177639	112177639	+	Missense_Mutation	SNP	T	T	G			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr5:112177639T>G	ENST00000457016.1	+	16	6728	c.6348T>G	c.(6346-6348)caT>caG	p.H2116Q	APC_ENST00000257430.4_Missense_Mutation_p.H2116Q|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.H2116Q			P25054	APC_HUMAN	adenomatous polyposis coli	2116	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GTAGTTTACATCAAGCTGCTG	0.408		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"E, M, O"	1	Unknown(1)	skin(1)											105	109	108					5																	112177639		2202	4300	6502	SO:0001583	missense	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	583	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 46"	611731	"adenomatosis polyposis coli"			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.6348T>G	chr5.hg19:g.112177639T>G	ENSP00000413133:p.His2116Gln		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	hg19	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	T	12.77	2.038546	0.35989	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.91011	-2.77;-2.77;-2.77	5.9	1.66	0.24008	.	0.042186	0.85682	D	0.000000	D	0.89283	0.6671	L	0.39245	1.2	0.51233	D	0.999917	D;D	0.67145	0.996;0.996	P;P	0.56788	0.806;0.737	D	0.85416	0.1140	9	.	.	.	-17.2926	9.2445	0.37518	0.0:0.2467:0.0:0.7533	.	2118;2116	Q4LE70;P25054	.;APC_HUMAN	Q	2116	ENSP00000413133:H2116Q;ENSP00000257430:H2116Q;ENSP00000427089:H2116Q	.	H	+	3	2	APC	112205538	0.990000	0.36364	1.000000	0.80357	0.990000	0.78478	0.132000	0.15891	0.335000	0.23614	-0.263000	0.10527	CAT		0.408	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		G	112177639	T	G	112177639	3	3	806	1	0	0	0	0	1	0	0	0	763	1432	50	5	6406	5	APC	5	112177639	Missense_Mutation	SNP	T	TCGA-UZ-A9PS-01A-11D-A42J-10	35850915	112177639	68737621	49	48165											
FBXO38	81545	hgsc.bcm.edu	37	5	147806844	147806844	+	Frame_Shift_Del	DEL	T	T	-			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr5:147806844delT	ENST00000340253.5	+	15	2155	c.1987delT	c.(1987-1989)tttfs	p.F663fs	CTD-2283N19.1_ENST00000520980.2_RNA|FBXO38_ENST00000296701.6_Intron|FBXO38_ENST00000394370.3_Frame_Shift_Del_p.F663fs|FBXO38_ENST00000513826.1_Intron			Q6PIJ6	FBX38_HUMAN	F-box protein 38	663					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCGAAGCAGTTTCCCCTCGA	0.478																																																0													62	57	59					5																	147806844		2203	4300	6503	SO:0001589	frameshift_variant	81545			BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"F-boxes /  "other""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.1987delT	chr5.hg19:g.147806844delT	ENSP00000342023:p.Phe663fs		Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Frame_Shift_Del	DEL	ENST00000340253.5	hg19																																																																																					0.478	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2	NM_030793		-	147806844	T	-	147806844	7	5	806	1	0	1	0	1	0	0	0	0	5748	1725	60	0	2041	0	FBXO38	5	147806844	Frame_Shift_Del	DEL	T	TCGA-UZ-A9PS-01A-11D-A42J-10	35629205	147806844	33108416	50	48166											
ARHGEF37	389337	hgsc.bcm.edu	37	5	149006771	149006772	+	In_Frame_Ins	INS	-	-	TGGCCA			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr5:149006771_149006772insTGGCCA	ENST00000333677.6	+	11	1760_1761	c.1597_1598insTGGCCA	c.(1597-1599)gtg>gTGGCCAtg	p.533_534insAM		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	533	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						GGGCCAAATCGTGGCCATCCTT	0.609																																																0																																										SO:0001652	inframe_insertion	389337			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.1598_1603dupTGGCCA	chr5.hg19:g.149006772_149006777dupTGGCCA	ENSP00000328083:p.Val533_Ala534insAlaMet		Q6ZW51	In_Frame_Ins	INS	ENST00000333677.6	hg19	CCDS43385.1																																																																																				0.609	ARHGEF37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373763.1	NM_001001669		TGGCCA	149006772	-	TGGCCA	149006771	7	5	806	1	0	1	1	0	0	0	0	0	906	1145	40	0	1635	0	ARHGEF37	5	149006771	In_Frame_Ins	INS	-	TCGA-UZ-A9PS-01A-11D-A42J-10	1199927	149006771	31908489	51	48167											
ODZ2	57451	hgsc.bcm.edu	37	5	167622284	167622285	+	Frame_Shift_Ins	INS	-	-	CCCGCCAGGATGGCACGTGAGT			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr5:167622284_167622285insCCCGCCAGGATGGCACGTGAGT	ENST00000518659.1	+	15	2923_2924	c.2884_2885insCCCGCCAGGATGGCACGTGAGT	c.(2884-2886)accfs	p.-962fs	TENM2_ENST00000545108.1_Frame_Shift_Ins_p.-962fs|TENM2_ENST00000519204.1_Frame_Shift_Ins_p.-841fs|TENM2_ENST00000403607.2_Frame_Shift_Ins_p.-786fs|TENM2_ENST00000520394.1_Frame_Shift_Ins_p.-730fs	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2						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)										CTACACCATCACCCGCCAGGAT	0.545																																																0																																										SO:0001589	frameshift_variant	57451			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	Exception_encountered	chr5.hg19:g.167622284_167622285insCCCGCCAGGATGGCACGTGAGT	ENSP00000429430:p.Thr962fs		Q9ULU2	Frame_Shift_Ins	INS	ENST00000518659.1	hg19																																																																																					0.545	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		CCCGCCAGGATGGCACGTGAGT	167622285	-	CCCGCCAGGATGGCACGTGAGT	167622284	7	5	806	1	0	1	1	0	0	0	0	0	10837	159	6	0	2915	0	ODZ2	5	167622284	Frame_Shift_Ins	INS	-	TCGA-UZ-A9PS-01A-11D-A42J-10	18615513	167622284	13292976	52	48168											
NPM1	4869	hgsc.bcm.edu	37	5	170818328	170818329	+	Frame_Shift_Ins	INS	-	-	A			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr5:170818328_170818329insA	ENST00000296930.5	+	3	459_460	c.158_159insA	c.(157-162)gcaaagfs	p.AK53fs	NPM1_ENST00000351986.6_Frame_Shift_Ins_p.AK53fs|NPM1_ENST00000517671.1_Frame_Shift_Ins_p.AK53fs|NPM1_ENST00000393820.2_Frame_Shift_Ins_p.AK53fs	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	53	Necessary for interaction with APEX1.|Required for interaction with SENP3.				cell aging (GO:0007569)|CENP-A containing nucleosome assembly (GO:0034080)|centrosome cycle (GO:0007098)|DNA repair (GO:0006281)|intracellular protein transport (GO:0006886)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of centrosome duplication (GO:0010826)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|nucleocytoplasmic transport (GO:0006913)|nucleosome assembly (GO:0006334)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of translation (GO:0045727)|protein localization (GO:0008104)|protein oligomerization (GO:0051259)|regulation of centriole replication (GO:0046599)|regulation of eIF2 alpha phosphorylation by dsRNA (GO:0060735)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of endoribonuclease activity (GO:0060699)|response to stress (GO:0006950)|ribosome assembly (GO:0042255)|signal transduction (GO:0007165)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle pole centrosome (GO:0031616)	histone binding (GO:0042393)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|unfolded protein binding (GO:0051082)		NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GGGGCTGGTGCAAAGGATGAGT	0.411			"T, F "	"ALK, RARA, MLF1"	"NHL, APL, AML"																																		Dom	yes		5	5q35	4869	"nucleophosmin (nucleolar phosphoprotein B23, numatrin)"		L	0																																										SO:0001589	frameshift_variant	4869			M26697	CCDS4376.1, CCDS4377.1, CCDS43399.1	5q35.1	2014-09-17			ENSG00000181163	ENSG00000181163			7910	protein-coding gene	gene with protein product	"nucleolar phosphoprotein B23", "numatrin", "nucleophosmin/nucleoplasmin family, member 1"	164040				8471164, 8122112	Standard	NM_002520		Approved	B23, NPM	uc003mbi.3	P06748	OTTHUMG00000130465	ENST00000296930.5:c.161dupA	chr5.hg19:g.170818331_170818331dupA	ENSP00000296930:p.Ala53fs		A8K3N7|B5BU00|D3DQL6|P08693|Q12826|Q13440|Q13441|Q14115|Q5EU94|Q5EU95|Q5EU96|Q5EU97|Q5EU98|Q5EU99|Q6V962|Q8WTW5|Q96AT6|Q96DC4|Q96EA5|Q9BYG9|Q9UDJ7	Frame_Shift_Ins	INS	ENST00000296930.5	hg19	CCDS4376.1																																																																																				0.411	NPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252858.2	NM_002520		A	170818329	-	A	170818328	7	5	806	1	0	1	1	0	0	0	0	0	10589	710	25	0	168	0	NPM1	5	170818328	Frame_Shift_Ins	INS	-	TCGA-UZ-A9PS-01A-11D-A42J-10	3196044	170818328	10096932	53	48169											
C6orf146	222826	hgsc.bcm.edu	37	6	4073537	4073537	+	Missense_Mutation	SNP	G	G	C			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr6:4073537G>C	ENST00000274673.3	-	6	677	c.274C>G	c.(274-276)Ctt>Gtt	p.L92V	FAM217A_ENST00000380188.2_5'UTR	NM_173563.2	NP_775834.2	Q8IXS0	F217A_HUMAN	family with sequence similarity 217, member A	92																	CCTTCATTAAGAGGACAATTC	0.284																																																0													88	91	90					6																	4073537		2200	4298	6498	SO:0001583	missense	222826			BC039349	CCDS4489.1	6p25.1	2012-02-07	2012-02-07	2012-02-07	ENSG00000145975	ENSG00000145975			21362	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 146"	C6orf146			Standard	NM_173563		Approved	MGC43581	uc003mvx.3	Q8IXS0	OTTHUMG00000014159	ENST00000274673.3:c.274C>G	chr6.hg19:g.4073537G>C	ENSP00000274673:p.Leu92Val		Q5JYK1	Missense_Mutation	SNP	ENST00000274673.3	hg19	CCDS4489.1	.	.	.	.	.	.	.	.	.	.	G	3.603	-0.081079	0.07141	.	.	ENSG00000145975	ENST00000274673;ENST00000470599;ENST00000498677;ENST00000492651	T	0.13657	2.57	4.94	2.43	0.29744	.	0.789154	0.10830	N	0.629459	T	0.01523	0.0049	N	0.12746	0.255	0.19300	N	0.999974	B	0.17038	0.02	B	0.15484	0.013	T	0.48658	-0.9016	10	0.08381	T	0.77	-3.6355	4.8234	0.13403	0.1733:0.1967:0.63:0.0	.	92	Q8IXS0	CF146_HUMAN	V	92;220;29;29	ENSP00000274673:L92V	ENSP00000274673:L92V	L	-	1	0	C6orf146	4018536	0.351000	0.24887	0.297000	0.24988	0.263000	0.26337	0.157000	0.16402	0.340000	0.23745	0.467000	0.42956	CTT		0.284	FAM217A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352577.2	NM_173563		C	4073537	G	C	4073537	3	2	806	1	0	0	0	0	1	0	0	0	2337	942	33	4	1260	4	C6orf146	6	4073537	Missense_Mutation	SNP	G	TCGA-UZ-A9PS-01A-11D-A42J-10		4073537	167041530	54	48170											
HIST1H4E	8367	hgsc.bcm.edu	37	6	26204932	26204932	+	Silent	SNP	T	T	C	rs147263244		TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr6:26204932T>C	ENST00000360441.4	+	1	75	c.60T>C	c.(58-60)cgT>cgC	p.R20R		NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e	20					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(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18		all_hematologic(11;0.196)				AGCGTCACCGTAAGGTCCTGC	0.552																																																0													86	85	85					6																	26204932		2203	4300	6503	SO:0001819	synonymous_variant	8367			Z80787	CCDS4593.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198518	ENSG00000276966		"Histones / Replication-dependent"	4790	protein-coding gene	gene with protein product		602830	"H4 histone family, member J", "histone 1, H4e"	H4FJ		9119399, 12408966	Standard	NM_003545		Approved	H4/j	uc003ngy.3	P62805	OTTHUMG00000014441	ENST00000360441.4:c.60T>C	chr6.hg19:g.26204932T>C			A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Silent	SNP	ENST00000360441.4	hg19	CCDS4593.1																																																																																				0.552	HIST1H4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040104.1	NM_003545		C	26204932	T	C	26204932	2	2	806	1	0	0	0	0	0	0	0	1	7171	1625	57	3		3	HIST1H4E	6	26204932	Silent	SNP	T	TCGA-UZ-A9PS-01A-11D-A42J-10	22131395	26204932	144910135	55	48171											
GTF2H4	2968	hgsc.bcm.edu	37	6	30877807	30877807	+	Missense_Mutation	SNP	T	T	A			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr6:30877807T>A	ENST00000259895.4	+	4	564	c.341T>A	c.(340-342)tTc>tAc	p.F114Y	GTF2H4_ENST00000539324.1_Missense_Mutation_p.F58Y|GTF2H4_ENST00000376316.2_Missense_Mutation_p.F114Y|RN7SL175P_ENST00000580375.1_RNA	NM_001517.4	NP_001508.1	Q92759	TF2H4_HUMAN	general transcription factor IIH, polypeptide 4, 52kDa	114					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						AACCCCATTTTCCGCCAGAAC	0.567								Nucleotide excision repair (NER)																																								0													115	132	126					6																	30877807		1510	2708	4218	SO:0001583	missense	2968			Y07595	CCDS34386.1	6p21.3	2012-11-05	2002-08-29		ENSG00000213780	ENSG00000213780		"General transcription factors", "General transcription factor IIH complex subunits"	4658	protein-coding gene	gene with protein product		601760	"general transcription factor IIH, polypeptide 4 (52kD subunit)"			9118947	Standard	NM_001517		Approved	TFB2, TFIIH, P52	uc003nsa.1	Q92759	OTTHUMG00000031043	ENST00000259895.4:c.341T>A	chr6.hg19:g.30877807T>A	ENSP00000259895:p.Phe114Tyr		B4DTJ5|Q76KU4	Missense_Mutation	SNP	ENST00000259895.4	hg19	CCDS34386.1	.	.	.	.	.	.	.	.	.	.	T	29.6	5.016695	0.93404	.	.	ENSG00000213780	ENST00000259895;ENST00000539324;ENST00000376316;ENST00000453897	T;T;T;T	0.60299	0.2;0.2;0.2;0.2	5.6	5.6	0.85130	.	0.000000	0.64402	U	0.000001	T	0.68641	0.3023	M	0.83012	2.62	0.80722	D	1	D;D;P;P	0.63046	0.992;0.959;0.825;0.825	P;P;P;P	0.61397	0.888;0.71;0.467;0.467	T	0.73392	-0.3997	10	0.51188	T	0.08	-11.768	13.7555	0.62935	0.0:0.0:0.0:1.0	.	120;58;114;114	B4DNU0;B4DTJ5;Q53HH3;Q92759	.;.;.;TF2H4_HUMAN	Y	114;58;114;114	ENSP00000259895:F114Y;ENSP00000442700:F58Y;ENSP00000365493:F114Y;ENSP00000410160:F114Y	ENSP00000259895:F114Y	F	+	2	0	GTF2H4	30985786	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.991000	0.76232	2.130000	0.65690	0.482000	0.46254	TTC		0.567	GTF2H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076044.3	NM_001517		A	30877807	T	A	30877807	3	1	806	1	0	0	0	0	1	0	0	0	6867	1783	62	5	351	5	GTF2H4	6	30877807	Missense_Mutation	SNP	T	TCGA-UZ-A9PS-01A-11D-A42J-10	4672875	30877807	140237260	56	48172											
SPDEF	25803	hgsc.bcm.edu	37	6	34508841	34508841	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr6:34508841G>A	ENST00000374037.3	-	3	968	c.554C>T	c.(553-555)gCc>gTc	p.A185V	SPDEF_ENST00000544425.1_Missense_Mutation_p.A185V	NM_012391.2	NP_036523.1	O95238	SPDEF_HUMAN	SAM pointed domain containing ETS transcription factor	185	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				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						CTCCGACATGGCGCACAGCTC	0.652																																																0													33	32	32					6																	34508841		2202	4299	6501	SO:0001583	missense	25803			AF071538	CCDS4794.1, CCDS59013.1	6p21.3	2013-08-07	2013-08-07		ENSG00000124664	ENSG00000124664			17257	protein-coding gene	gene with protein product		608144	"SAM pointed domain containing ets transcription factor"			10625666, 6857767	Standard	NM_012391		Approved	PDEF, bA375E1.3	uc003ojq.2	O95238	OTTHUMG00000014548	ENST00000374037.3:c.554C>T	chr6.hg19:g.34508841G>A	ENSP00000363149:p.Ala185Val		B4DWH8|F5H778	Missense_Mutation	SNP	ENST00000374037.3	hg19	CCDS4794.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.319042	0.81469	.	.	ENSG00000124664	ENST00000374037;ENST00000544425	T;T	0.32023	1.47;1.47	5.65	4.77	0.60923	Sterile alpha motif/pointed domain (2);Pointed domain (3);	0.358823	0.31636	N	0.007318	T	0.26376	0.0644	M	0.73962	2.25	0.52099	D	0.999947	P;P	0.44521	0.837;0.521	B;B	0.42593	0.392;0.272	T	0.09185	-1.0686	10	0.46703	T	0.11	.	15.4502	0.75268	0.0:0.0:0.8599:0.1401	.	185;185	F5H778;O95238	.;SPDEF_HUMAN	V	185	ENSP00000363149:A185V;ENSP00000442715:A185V	ENSP00000363149:A185V	A	-	2	0	SPDEF	34616819	1.000000	0.71417	0.989000	0.46669	0.971000	0.66376	6.742000	0.74843	1.342000	0.45619	0.561000	0.74099	GCC		0.652	SPDEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040246.1	NM_012391		A	34508841	G	A	34508841	3	1	806	1	0	0	0	0	1	0	0	0	15031	1203	42	2	469	2	SPDEF	6	34508841	Missense_Mutation	SNP	G	TCGA-UZ-A9PS-01A-11D-A42J-10	3631034	34508841	136606226	57	48173											
GPR110	266977	hgsc.bcm.edu	37	6	46973599	46973599	+	Silent	SNP	C	C	A			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr6:46973599C>A	ENST00000371253.2	-	13	2762	c.2547G>T	c.(2545-2547)ctG>ctT	p.L849L	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Silent_p.L652L	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	849					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						ACTTGTTGAACAGAAGTTGTC	0.373																																																0													72	59	64					6																	46973599		2203	4300	6503	SO:0001819	synonymous_variant	266977			AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"-", "GPCR / Class B : Orphans"	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.2547G>T	chr6.hg19:g.46973599C>A			Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Silent	SNP	ENST00000371253.2	hg19	CCDS34471.1																																																																																				0.373	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040810.2	NM_153840		A	46973599	C	A	46973599	2	1	806	1	0	0	0	0	0	0	0	1	6629	465	17	4		4	GPR110	6	46973599	Silent	SNP	C	TCGA-UZ-A9PS-01A-11D-A42J-10	12464758	46973599	124141468	58	48174											
ARHGAP18	93663	hgsc.bcm.edu	37	6	129963090	129963090	+	Silent	SNP	G	G	T			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr6:129963090G>T	ENST00000368149.2	-	2	275	c.187C>A	c.(187-189)Cga>Aga	p.R63R		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)		GAAATTGATCGATCAAATGGA	0.388																																																0													141	138	139					6																	129963090		2203	4300	6503	SO:0001819	synonymous_variant	93663			AB053293	CCDS34535.1	6q23.1	2011-06-29			ENSG00000146376	ENSG00000146376		"Rho GTPase activating proteins"	21035	protein-coding gene	gene with protein product		613351					Standard	NM_033515		Approved	MacGAP, bA307O14.2	uc003qbr.3	Q8N392	OTTHUMG00000015547	ENST00000368149.2:c.187C>A	chr6.hg19:g.129963090G>T				Silent	SNP	ENST00000368149.2	hg19	CCDS34535.1																																																																																				0.388	ARHGAP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042185.2	NM_033515		T	129963090	G	T	129963090	2	4	806	1	0	0	0	0	0	0	0	1	868	1066	37	4		4	ARHGAP18	6	129963090	Silent	SNP	G	TCGA-UZ-A9PS-01A-11D-A42J-10	82989491	129963090	41151977	59	48175											
UTRN	7402	hgsc.bcm.edu	37	6	144744729	144744729	+	Silent	SNP	C	C	A			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr6:144744729C>A	ENST00000367545.3	+	4	279	c.279C>A	c.(277-279)gtC>gtA	p.V93V		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	93	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				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)		TAAATAACGTCAACAGAGTGC	0.413																																																0													204	179	187					6																	144744729		2203	4300	6503	SO:0001819	synonymous_variant	7402			AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"utrophin (homologous to dystrophin)"	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.279C>A	chr6.hg19:g.144744729C>A			Q5SYY1|Q5SZ57|Q9UJ40	Silent	SNP	ENST00000367545.3	hg19	CCDS34547.1																																																																																				0.413	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			A	144744729	C	A	144744729	2	1	806	1	0	0	0	0	0	0	0	1	17108	813	29	4		4	UTRN	6	144744729	Silent	SNP	C	TCGA-UZ-A9PS-01A-11D-A42J-10	14781639	144744729	26370338	60	48176											
RBM16	22828	hgsc.bcm.edu	37	6	155153549	155153549	+	Missense_Mutation	SNP	A	A	G			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr6:155153549A>G	ENST00000367178.3	+	20	3412	c.2836A>G	c.(2836-2838)Att>Gtt	p.I946V	SCAF8_ENST00000417268.1_Missense_Mutation_p.I946V|TIAM2_ENST00000461783.3_5'Flank|SCAF8_ENST00000367186.4_Missense_Mutation_p.I1012V	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	946	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						ACAGCCTGGAATTCCACCCCA	0.502																																																0													148	160	156					6																	155153549		2203	4300	6503	SO:0001583	missense	22828			AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"RNA binding motif (RRM) containing"	20959	protein-coding gene	gene with protein product			"RNA binding motif protein 16"	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.2836A>G	chr6.hg19:g.155153549A>G	ENSP00000356146:p.Ile946Val		B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Missense_Mutation	SNP	ENST00000367178.3	hg19	CCDS5247.1	.	.	.	.	.	.	.	.	.	.	A	1.796	-0.478336	0.04414	.	.	ENSG00000213079	ENST00000367178;ENST00000417268;ENST00000367186	T;T;T	0.42513	0.99;0.99;0.97	5.58	-2.13	0.07144	.	0.310943	0.25708	U	0.028827	T	0.07098	0.0180	N	0.19112	0.55	0.21105	N	0.999786	P;P;P	0.35272	0.493;0.493;0.493	B;B;B	0.32928	0.155;0.155;0.155	T	0.40924	-0.9537	10	0.15952	T	0.53	.	6.918	0.24371	0.4362:0.4171:0.0598:0.087	.	991;1012;946	B7Z876;B7Z888;Q9UPN6	.;.;SCAF8_HUMAN	V	946;946;1012	ENSP00000356146:I946V;ENSP00000413098:I946V;ENSP00000356154:I1012V	ENSP00000356146:I946V	I	+	1	0	SCAF8	155195241	1.000000	0.71417	0.828000	0.32881	0.019000	0.09904	0.787000	0.26858	-0.163000	0.10946	-1.089000	0.02181	ATT		0.502	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042798.1	NM_014892		G	155153549	A	G	155153549	3	3	806	1	0	0	0	0	1	0	0	0	13124	101	4	3	2914	3	RBM16	6	155153549	Missense_Mutation	SNP	A	TCGA-UZ-A9PS-01A-11D-A42J-10	10408820	155153549	15961518	61	48177											
MAGI2	9863	hgsc.bcm.edu	37	7	77885345	77885345	+	Silent	SNP	T	T	A			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr7:77885345T>A	ENST00000354212.4	-	10	2215	c.1962A>T	c.(1960-1962)gtA>gtT	p.V654V	MAGI2_ENST00000419488.1_Silent_p.V654V|MAGI2_ENST00000535697.1_Silent_p.V491V|MAGI2_ENST00000522391.1_Silent_p.V654V|MAGI2_ENST00000536571.1_Silent_p.V486V	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	654	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				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)			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)				TCAGGTTCTGTACATTCTGCT	0.458																																																0													72	60	64					7																	77885345		2203	4300	6503	SO:0001819	synonymous_variant	9863			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.1962A>T	chr7.hg19:g.77885345T>A			A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Silent	SNP	ENST00000354212.4	hg19	CCDS5594.1																																																																																				0.458	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		A	77885345	T	A	77885345	2	1	806	1	0	0	0	0	0	0	0	1	9193	1625	57	5		5	MAGI2	7	77885345	Silent	SNP	T	TCGA-UZ-A9PS-01A-11D-A42J-10		77885345	81253318	62	48178											
SEMA3E	9723	hgsc.bcm.edu	37	7	83023614	83023614	+	Splice_Site	SNP	C	C	A			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr7:83023614C>A	ENST00000307792.3	-	13	1966	c.1499G>T	c.(1498-1500)cGg>cTg	p.R500L	SEMA3E_ENST00000427262.1_Splice_Site_p.R440L	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	500	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)				aGAACTTACCCGCTTTGAAGA	0.313																																																0													46	46	46					7																	83023614		2203	4297	6500	SO:0001630	splice_region_variant	9723			AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10727	protein-coding gene	gene with protein product	"M-sema H"	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.1500+1G>T	chr7.hg19:g.83023614C>A			B4E1P1|Q75M94|Q75M97	Missense_Mutation	SNP	ENST00000307792.3	hg19	CCDS34674.1	.	.	.	.	.	.	.	.	.	.	C	32	5.174122	0.94807	.	.	ENSG00000170381	ENST00000307792;ENST00000427262;ENST00000541514	T;T	0.11712	2.75;2.75	5.97	5.97	0.96955	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.35422	0.0931	M	0.72479	2.2	0.80722	D	1	D	0.69078	0.997	D	0.71656	0.974	T	0.00920	-1.1514	10	0.62326	D	0.03	.	20.4324	0.99085	0.0:1.0:0.0:0.0	.	500	O15041	SEM3E_HUMAN	L	500;440;500	ENSP00000303212:R500L;ENSP00000405052:R440L	ENSP00000303212:R500L	R	-	2	0	SEMA3E	82861550	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	5.122000	0.64697	2.833000	0.97629	0.585000	0.79938	CGG		0.313	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431	Missense_Mutation	A	83023614	C	A	83023614	5	1	806	1	0	0	0	0	0	0	1	0	14034	666	23	4	848	4	SEMA3E	7	83023614	Splice_Site	SNP	C	TCGA-UZ-A9PS-01A-11D-A42J-10	5138269	83023614	76115049	63	48179											
GATAD1	57798	hgsc.bcm.edu	37	7	92085728	92085728	+	Missense_Mutation	SNP	T	T	A			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr7:92085728T>A	ENST00000287957.3	+	5	939	c.662T>A	c.(661-663)tTt>tAt	p.F221Y	AC007566.10_ENST00000427458.1_RNA	NM_021167.4	NP_066990.3	Q8WUU5	GATD1_HUMAN	GATA zinc finger domain containing 1	221						nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|lung(3)	6	all_cancers(62;1.63e-10)|all_epithelial(64;8.33e-10)|Breast(17;0.00311)|all_lung(186;0.0498)|Lung NSC(181;0.0676)		STAD - Stomach adenocarcinoma(171;4.51e-05)|GBM - Glioblastoma multiforme(5;8.83e-05)|all cancers(6;0.000136)|Lung(22;0.123)|Epithelial(20;0.179)|LUSC - Lung squamous cell carcinoma(200;0.225)			TACTTGGAATTTGTTTGTCAT	0.433																																																0													163	148	153					7																	92085728		2203	4300	6503	SO:0001583	missense	57798				CCDS5625.1	7q21-q22	2014-09-17			ENSG00000157259	ENSG00000157259		"GATA zinc finger domain containing"	29941	protein-coding gene	gene with protein product	"ocular development associated gene"	614518				12062807	Standard	NM_021167		Approved	ODAG, RG083M05.2, FLJ22489	uc003ulx.2	Q8WUU5	OTTHUMG00000131201	ENST00000287957.3:c.662T>A	chr7.hg19:g.92085728T>A	ENSP00000287957:p.Phe221Tyr		B2RE37|D6W5Q5|Q8N5Y5|Q99995|Q9H689	Missense_Mutation	SNP	ENST00000287957.3	hg19	CCDS5625.1	.	.	.	.	.	.	.	.	.	.	T	35	5.436365	0.96168	.	.	ENSG00000157259	ENST00000287957	T	0.68624	-0.34	5.77	5.77	0.91146	.	0.046872	0.85682	D	0.000000	T	0.72598	0.3480	M	0.82193	2.58	0.80722	D	1	P	0.40250	0.709	B	0.40410	0.328	T	0.78016	-0.2369	10	0.87932	D	0	-14.2119	16.1448	0.81559	0.0:0.0:0.0:1.0	.	221	Q8WUU5	GATD1_HUMAN	Y	221	ENSP00000287957:F221Y	ENSP00000287957:F221Y	F	+	2	0	GATAD1	91923664	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.010000	0.88615	2.210000	0.71456	0.472000	0.43445	TTT		0.433	GATAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253929.2	NM_021167		A	92085728	T	A	92085728	3	1	806	1	0	0	0	0	1	0	0	0	6261	1841	64	5	680	5	GATAD1	7	92085728	Missense_Mutation	SNP	T	TCGA-UZ-A9PS-01A-11D-A42J-10	9062114	92085728	67052935	64	48180											
CUX1	1523	hgsc.bcm.edu	37	7	101891877	101891877	+	Missense_Mutation	SNP	A	A	T			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr7:101891877A>T	ENST00000292535.7	+	24	4111	c.4073A>T	c.(4072-4074)cAg>cTg	p.Q1358L	CUX1_ENST00000393824.3_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.Q1256L|CUX1_ENST00000360264.3_Missense_Mutation_p.Q1369L|CUX1_ENST00000556210.1_Missense_Mutation_p.Q1200L|CUX1_ENST00000550008.2_Missense_Mutation_p.Q1302L|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000549414.2_Missense_Mutation_p.Q1336L|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000547394.2_Intron	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	1358					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						CCCAAGTCTCAGGGAGAGGCC	0.791																																																0													3	3	3					7																	101891877		1346	2553	3899	SO:0001583	missense	1523			M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"Homeoboxes / CUT class"	2557	protein-coding gene	gene with protein product	"golgi integral membrane protein 6"	116896	"cut (Drosophila)-like 1 (CCAAT displacement protein)", "cut-like 1, CCAAT displacement protein (Drosophila)"	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.4073A>T	chr7.hg19:g.101891877A>T	ENSP00000292535:p.Gln1358Leu		B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	hg19	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	A	13.22	2.172495	0.38315	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T	0.61158	0.17;0.18;0.16;0.13;0.14;0.15	3.09	3.09	0.35607	.	7.025930	0.01253	U	0.008923	T	0.71048	0.3294	L	0.44542	1.39	0.80722	D	1	P;P	0.42039	0.659;0.769	P;P	0.61397	0.775;0.888	T	0.54957	-0.8215	10	0.31617	T	0.26	.	11.7319	0.51741	1.0:0.0:0.0:0.0	.	1358;1369	P39880;P39880-3	CUX1_HUMAN;.	L	1369;1358;1336;1302;1256;1200	ENSP00000353401:Q1369L;ENSP00000292535:Q1358L;ENSP00000446630:Q1336L;ENSP00000447373:Q1302L;ENSP00000450125:Q1256L;ENSP00000451558:Q1200L	ENSP00000292535:Q1358L	Q	+	2	0	CUX1	101678597	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	2.124000	0.42006	1.398000	0.46701	0.402000	0.26972	CAG		0.791	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		T	101891877	A	T	101891877	3	4	806	1	0	0	0	0	1	0	0	0	4066	188	7	5	4234	5	CUX1	7	101891877	Missense_Mutation	SNP	A	TCGA-UZ-A9PS-01A-11D-A42J-10	9806149	101891877	57246786	65	48181											
HIPK2	28996	hgsc.bcm.edu	37	7	139305300	139305300	+	Silent	SNP	T	T	C			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr7:139305300T>C	ENST00000406875.3	-	7	1723	c.1629A>G	c.(1627-1629)tcA>tcG	p.S543S	HIPK2_ENST00000342645.6_Silent_p.S543S|HIPK2_ENST00000428878.2_Silent_p.S543S	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	543	Interaction with SKI and SMAD1.				adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					TCTGGAAACATGATTTGACGC	0.502											OREG0018361	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													279	262	267					7																	139305300		2041	4230	6271	SO:0001819	synonymous_variant	28996			AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"homeodomain-interacting protein kinase 2"			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.1629A>G	chr7.hg19:g.139305300T>C		1647	Q75MR7|Q8WWI4|Q9H2Y1	Silent	SNP	ENST00000406875.3	hg19																																																																																					0.502	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349430.3	NM_022740		C	139305300	T	C	139305300	2	2	806	1	0	0	0	0	0	0	0	1	7119	1451	51	3		3	HIPK2	7	139305300	Silent	SNP	T	TCGA-UZ-A9PS-01A-11D-A42J-10	37413423	139305300	19833363	66	48182											
MLL3	58508	hgsc.bcm.edu	37	7	151874432	151874433	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	TT	TT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr7:151874432_151874433delTT	ENST00000262189.6	-	38	8323_8324	c.8105_8106delAA	c.(8104-8106)aaafs	p.K2702fs	KMT2C_ENST00000355193.2_Frame_Shift_Del_p.K2702fs	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2702	Asp-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CCTCAAGGTCTTTAACATCCAG	0.386																																																0																																										SO:0001589	frameshift_variant	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.8105_8106delAA	chr7.hg19:g.151874432_151874433delTT	ENSP00000262189:p.Lys2702fs		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Del	DEL	ENST00000262189.6	hg19	CCDS5931.1																																																																																				0.386	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			-	151874433	TT	-	151874432	7	5	806	1	0	1	0	1	0	0	0	0	9624	1606	56	0	6717	0	MLL3	7	151874432	Frame_Shift_Del	DEL	TT	TCGA-UZ-A9PS-01A-11D-A42J-10	12569132	151874432	7264231	67	48183											
DPP6	1804	hgsc.bcm.edu	37	7	154684050	154684050	+	Missense_Mutation	SNP	C	C	A	rs186233086		TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr7:154684050C>A	ENST00000377770.3	+	26	2599	c.2458C>A	c.(2458-2460)Ccg>Acg	p.P820T	DPP6_ENST00000404039.1_Missense_Mutation_p.P756T|DPP6_ENST00000427557.1_Missense_Mutation_p.P713T|DPP6_ENST00000332007.3_Missense_Mutation_p.P758T			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	820					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)			GCAGATTTACCCGGACGAAAG	0.517																																					NSCLC(125;1384 1783 2490 7422 34254)											0													87	92	91					7																	154684050		2008	4163	6171	SO:0001583	missense	1804			M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"dipeptidylpeptidase VI", "dipeptidylpeptidase 6"			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.2458C>A	chr7.hg19:g.154684050C>A	ENSP00000367001:p.Pro820Thr			Missense_Mutation	SNP	ENST00000377770.3	hg19		.	.	.	.	.	.	.	.	.	.	C	15.88	2.962931	0.53507	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T	0.54675	0.56;0.56;0.56;0.56	4.66	4.66	0.58398	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.66819	0.2828	L	0.53561	1.675	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;0.999;1.0;0.999	T	0.62077	-0.6930	10	0.18710	T	0.47	-16.57	17.5681	0.87926	0.0:1.0:0.0:0.0	.	713;758;820;756	E9PDL2;P42658-2;P42658;E9PF59	.;.;DPP6_HUMAN;.	T	756;820;758;713	ENSP00000385578:P756T;ENSP00000367001:P820T;ENSP00000328226:P758T;ENSP00000397303:P713T	ENSP00000328226:P758T	P	+	1	0	DPP6	154314983	1.000000	0.71417	0.984000	0.44739	0.083000	0.17756	6.962000	0.76048	2.147000	0.66899	0.655000	0.94253	CCG		0.517	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797		A	154684050	C	A	154684050	3	1	806	1	0	0	0	0	1	0	0	0	4732	623	22	4	2676	4	DPP6	7	154684050	Missense_Mutation	SNP	C	TCGA-UZ-A9PS-01A-11D-A42J-10	2809618	154684050	4454613	68	48184											
DLC1	10395	hgsc.bcm.edu	37	8	12957624	12957624	+	Missense_Mutation	SNP	C	C	G			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr8:12957624C>G	ENST00000276297.4	-	9	2631	c.2222G>C	c.(2221-2223)aGc>aCc	p.S741T	DLC1_ENST00000358919.2_Missense_Mutation_p.S304T|DLC1_ENST00000512044.2_Missense_Mutation_p.S338T|DLC1_ENST00000520226.1_Missense_Mutation_p.S230T	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																																																0													56	47	50					8																	12957624		2203	4300	6503	SO:0001583	missense	10395			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	2897	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 12"	604258	"deleted in liver cancer 1"			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.2222G>C	chr8.hg19:g.12957624C>G	ENSP00000276297:p.Ser741Thr		B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	hg19	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		G	12957624	C	G	12957624	3	3	806	1	0	0	0	0	1	0	0	0	4552	797	28	4	2404	4	DLC1	8	12957624	Missense_Mutation	SNP	C	TCGA-UZ-A9PS-01A-11D-A42J-10		12957624	133406398	69	48185											
DUSP4	1846	hgsc.bcm.edu	37	8	29195962	29195962	+	Silent	SNP	G	G	A			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr8:29195962G>A	ENST00000240100.2	-	3	1025	c.636C>T	c.(634-636)gcC>gcT	p.A212A	DUSP4_ENST00000240101.2_Silent_p.A121A	NM_001394.6	NP_001385.1	Q13115	DUS4_HUMAN	dual specificity phosphatase 4	212	Tyrosine-protein phosphatase.				endoderm formation (GO:0001706)|innate immune response (GO:0045087)|MAPK cascade (GO:0000165)|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)|protein dephosphorylation (GO:0006470)|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)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|protein tyrosine/threonine phosphatase activity (GO:0008330)			endometrium(1)|large_intestine(1)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)		TGTCTCTCCGGGCAGCATGGT	0.562																																																0													89	69	76					8																	29195962		2203	4300	6503	SO:0001819	synonymous_variant	1846			U21108	CCDS6072.1, CCDS6073.1	8p12-p11	2011-06-09			ENSG00000120875	ENSG00000120875		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3070	protein-coding gene	gene with protein product	"VH1 homologous phosphatase 2", "MAP kinase phosphatase 2"	602747				7535768, 9205128	Standard	NM_001394		Approved	HVH2, MKP-2, TYP	uc003xhm.3	Q13115	OTTHUMG00000133395	ENST00000240100.2:c.636C>T	chr8.hg19:g.29195962G>A			B2RBU5|D3DSU4|G5E930|Q13524	Silent	SNP	ENST00000240100.2	hg19	CCDS6072.1																																																																																				0.562	DUSP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257249.1	NM_001394		A	29195962	G	A	29195962	2	1	806	1	0	0	0	0	0	0	0	1	4829	1219	43	2		2	DUSP4	8	29195962	Silent	SNP	G	TCGA-UZ-A9PS-01A-11D-A42J-10	16238338	29195962	117168060	70	48186											
COL14A1	7373	hgsc.bcm.edu	37	8	121170481	121170481	+	Silent	SNP	T	T	A			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr8:121170481T>A	ENST00000297848.3	+	3	471	c.201T>A	c.(199-201)acT>acA	p.T67T	COL14A1_ENST00000537875.1_Silent_p.T67T|COL14A1_ENST00000309791.4_Silent_p.T67T|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Silent_p.T67T	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)			TGACTCCAACTTCAGGTAAAA	0.348																																																0													61	62	61					8																	121170481		2203	4299	6502	SO:0001819	synonymous_variant	7373				CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"Collagens", "Fibronectin type III domain containing"	2191	protein-coding gene	gene with protein product		120324	"undulin"	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.201T>A	chr8.hg19:g.121170481T>A				Silent	SNP	ENST00000297848.3	hg19	CCDS34938.1																																																																																				0.348	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		A	121170481	T	A	121170481	2	1	806	1	0	0	0	0	0	0	0	1	3673	1596	56	5		5	COL14A1	8	121170481	Silent	SNP	T	TCGA-UZ-A9PS-01A-11D-A42J-10	91974519	121170481	25193541	71	48187											
TTC39B	158219	hgsc.bcm.edu	37	9	15211355	15211355	+	Missense_Mutation	SNP	T	T	C			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr9:15211355T>C	ENST00000512701.2	-	5	559	c.523A>G	c.(523-525)Att>Gtt	p.I175V	TTC39B_ENST00000380850.4_Missense_Mutation_p.I175V|TTC39B_ENST00000355694.2_Missense_Mutation_p.I109V|TTC39B_ENST00000541445.1_Missense_Mutation_p.I109V|TTC39B_ENST00000582994.1_5'Flank|TTC39B_ENST00000297615.5_Missense_Mutation_p.I106V|TTC39B_ENST00000507285.1_Missense_Mutation_p.I10V|TTC39B_ENST00000507993.1_Missense_Mutation_p.I10V			Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	175										NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						AACACCACAATGGTACTGTAG	0.453																																																0													149	127	135					9																	15211355		2203	4300	6503	SO:0001583	missense	158219			AK091187	CCDS6477.1, CCDS6477.2, CCDS55294.1, CCDS55295.1, CCDS55296.1	9p22.2	2013-01-11	2008-06-23	2008-06-23	ENSG00000155158	ENSG00000155158		"Tetratricopeptide (TTC) repeat domain containing"	23704	protein-coding gene	gene with protein product		613574	"chromosome 9 open reading frame 52"	C9orf52			Standard	NM_001168339		Approved	FLJ33868	uc003zlr.2	Q5VTQ0	OTTHUMG00000019581	ENST00000512701.2:c.523A>G	chr9.hg19:g.15211355T>C	ENSP00000422496:p.Ile175Val		A5PLN1|B4DQ10|B4DQX4|B4DW93|Q8IVR7|Q8IXZ6|Q8N267	Missense_Mutation	SNP	ENST00000512701.2	hg19	CCDS6477.2	.	.	.	.	.	.	.	.	.	.	T	22.3	4.269430	0.80469	.	.	ENSG00000155158	ENST00000380850;ENST00000297615;ENST00000355694;ENST00000512701;ENST00000507285;ENST00000507993;ENST00000541445	T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0	5.79	5.79	0.91817	.	0.058027	0.64402	N	0.000002	T	0.60599	0.2281	M	0.63428	1.95	0.80722	D	1	P;P;D;P;P	0.65815	0.51;0.565;0.995;0.597;0.597	B;P;D;P;P	0.78314	0.327;0.456;0.991;0.53;0.53	T	0.55805	-0.8083	10	0.23302	T	0.38	-18.5916	15.7917	0.78369	0.0:0.0:0.0:1.0	.	106;175;175;109;109	F5H705;E9PAQ9;E9PE60;A5PLN1;Q5VTQ0	.;.;.;.;TT39B_HUMAN	V	175;106;109;175;10;10;109	ENSP00000370231:I175V;ENSP00000297615:I106V;ENSP00000347920:I109V;ENSP00000422496:I175V;ENSP00000426539:I10V;ENSP00000423392:I10V;ENSP00000442880:I109V	ENSP00000297615:I106V	I	-	1	0	TTC39B	15201355	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.701000	0.84566	2.218000	0.71995	0.533000	0.62120	ATT		0.453	TTC39B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051758.3	NM_152574		C	15211355	T	C	15211355	3	2	806	1	0	0	0	0	1	0	0	0	16713	1464	51	3	1610	3	TTC39B	9	15211355	Missense_Mutation	SNP	T	TCGA-UZ-A9PS-01A-11D-A42J-10		15211355	126002076	72	48188											
KIAA1797	54914	hgsc.bcm.edu	37	9	20740261	20740261	+	Missense_Mutation	SNP	T	T	G			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr9:20740261T>G	ENST00000380249.1	+	7	678	c.314T>G	c.(313-315)aTt>aGt	p.I105S	FOCAD_ENST00000338382.6_Missense_Mutation_p.I105S	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	105						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											ATAAAAGCCATTATGCACTTA	0.313																																																0													76	78	77					9																	20740261		2203	4297	6500	SO:0001583	missense	54914			AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"KIAA1797"	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.314T>G	chr9.hg19:g.20740261T>G	ENSP00000369599:p.Ile105Ser		D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	ENST00000380249.1	hg19	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	T	19.26	3.793357	0.70452	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.24538	1.85;1.85	5.54	5.54	0.83059	Domain of unknown function DUF3730 (1);	0.320980	0.32819	N	0.005603	T	0.25419	0.0618	N	0.19112	0.55	0.43191	D	0.995023	P	0.46512	0.879	P	0.48598	0.583	T	0.04017	-1.0984	10	0.87932	D	0	-3.8635	13.8993	0.63792	0.0:0.0:0.0:1.0	.	105	Q5VW36	K1797_HUMAN	S	105	ENSP00000369599:I105S;ENSP00000344307:I105S	ENSP00000344307:I105S	I	+	2	0	KIAA1797	20730261	1.000000	0.71417	0.949000	0.38748	0.844000	0.47949	3.640000	0.54350	2.103000	0.63969	0.454000	0.30748	ATT		0.313	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794		G	20740261	T	G	20740261	3	3	806	1	0	0	0	0	1	0	0	0	8260	1493	52	5	328	5	KIAA1797	9	20740261	Missense_Mutation	SNP	T	TCGA-UZ-A9PS-01A-11D-A42J-10	5528906	20740261	120473170	73	48189											
ZFP37	7539	hgsc.bcm.edu	37	9	115805449	115805449	+	Silent	SNP	A	A	G			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr9:115805449A>G	ENST00000374227.3	-	4	1476	c.1449T>C	c.(1447-1449)caT>caC	p.H483H	ZFP37_ENST00000555206.1_Silent_p.H484H|ZFP37_ENST00000553380.1_Silent_p.H498H	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	483					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						TCTCCTTAGTATGAGTTCTTT	0.373																																																0													75	73	74					9																	115805449		2203	4300	6503	SO:0001819	synonymous_variant	7539			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.1449T>C	chr9.hg19:g.115805449A>G			A0AVJ9|B4DVX4|G3V3L7|Q5T7Q4	Silent	SNP	ENST00000374227.3	hg19	CCDS6787.1																																																																																				0.373	ZFP37-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055439.1	NM_003408		G	115805449	A	G	115805449	2	3	806	1	0	0	0	0	0	0	0	1	17653	446	16	3		3	ZFP37	9	115805449	Silent	SNP	A	TCGA-UZ-A9PS-01A-11D-A42J-10	95065188	115805449	25407982	74	48190											
PHYHD1	254295	hgsc.bcm.edu	37	9	131689459	131689459	+	Missense_Mutation	SNP	A	A	G			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr9:131689459A>G	ENST00000372592.3	+	4	1109	c.176A>G	c.(175-177)gAg>gGg	p.E59G	PHYHD1_ENST00000353176.5_Missense_Mutation_p.E59G|PHYHD1_ENST00000421063.2_Missense_Mutation_p.E59G|PHYHD1_ENST00000308941.5_Missense_Mutation_p.E59G	NM_001100876.1	NP_001094346.1	Q5SRE7	PHYD1_HUMAN	phytanoyl-CoA dioxygenase domain containing 1	59							dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(1)|stomach(3)	10						CAGGAAGAGGAGCAGCTTCGA	0.582											OREG0019526	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													137	118	124					9																	131689459		2203	4300	6503	SO:0001583	missense	254295			BC051300	CCDS6914.1, CCDS43885.1, CCDS43886.1	9q34.13	2010-08-13			ENSG00000175287	ENSG00000175287			23396	protein-coding gene	gene with protein product						12477932	Standard	NM_174933		Approved	MGC16638	uc004bwp.2	Q5SRE7	OTTHUMG00000020764	ENST00000372592.3:c.176A>G	chr9.hg19:g.131689459A>G	ENSP00000361673:p.Glu59Gly	1589	A6PWN9|A6PWP0|B3KT57|B4E3X8|Q5SRE9|Q5SRF0|Q7Z623|Q7Z7P9|Q96GM4	Missense_Mutation	SNP	ENST00000372592.3	hg19	CCDS43885.1	.	.	.	.	.	.	.	.	.	.	A	15.58	2.876179	0.51801	.	.	ENSG00000175287	ENST00000372592;ENST00000428610;ENST00000308941;ENST00000419552;ENST00000353176;ENST00000426694;ENST00000421063	D;D;D	0.89810	-2.54;-2.57;-2.57	5.32	5.32	0.75619	.	0.100735	0.64402	D	0.000003	D	0.90868	0.7131	M	0.73598	2.24	0.58432	D	0.999999	P;P;D	0.54397	0.734;0.605;0.966	B;B;P	0.49887	0.373;0.412;0.625	D	0.91285	0.5054	10	0.51188	T	0.08	-23.6398	14.0941	0.65008	1.0:0.0:0.0:0.0	.	59;59;59	Q5SRE7-2;Q5SRE7;Q5SRE7-3	.;PHYD1_HUMAN;.	G	59	ENSP00000361673:E59G;ENSP00000340945:E59G;ENSP00000409928:E59G	ENSP00000309515:E59G	E	+	2	0	PHYHD1	130729280	1.000000	0.71417	0.998000	0.56505	0.324000	0.28378	3.925000	0.56484	2.002000	0.58637	0.533000	0.62120	GAG		0.582	PHYHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054506.2	NM_174933		G	131689459	A	G	131689459	3	3	806	1	0	0	0	0	1	0	0	0	11867	304	11	3	182	3	PHYHD1	9	131689459	Missense_Mutation	SNP	A	TCGA-UZ-A9PS-01A-11D-A42J-10	15884010	131689459	9523972	75	48191											
DOLK	22845	hgsc.bcm.edu	37	9	131708203	131708203	+	Silent	SNP	G	G	T			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr9:131708203G>T	ENST00000372586.3	-	1	1695	c.1380C>A	c.(1378-1380)acC>acA	p.T460T	RP11-101E3.5_ENST00000482796.1_Intron|NUP188_ENST00000372577.2_5'Flank	NM_014908.3	NP_055723.1	Q9UPQ8	DOLK_HUMAN	dolichol kinase	460	CTP-binding.				cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|dolichyl monophosphate biosynthetic process (GO:0043048)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	dolichol kinase activity (GO:0004168)			breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						TCTCCCCCATGGTGCTACCGA	0.547																																																0													85	86	86					9																	131708203		2203	4300	6503	SO:0001819	synonymous_variant	22845			AB029017	CCDS6915.1	9q34.13	2014-09-17	2007-02-09	2007-02-09	ENSG00000175283	ENSG00000175283			23406	protein-coding gene	gene with protein product	"dolichol kinase 1"	610746	"transmembrane protein 15"	TMEM15		12975309, 16923818	Standard	NM_014908		Approved	KIAA1094, DK1	uc004bwr.3	Q9UPQ8	OTTHUMG00000020765	ENST00000372586.3:c.1380C>A	chr9.hg19:g.131708203G>T			Q5SRE6	Silent	SNP	ENST00000372586.3	hg19	CCDS6915.1																																																																																				0.547	DOLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054515.1	NM_014908		T	131708203	G	T	131708203	2	4	806	1	0	0	0	0	0	0	0	1	4705	1335	47	4		4	DOLK	9	131708203	Silent	SNP	G	TCGA-UZ-A9PS-01A-11D-A42J-10	18744	131708203	9505228	76	48192											
AGPAT2	10555	hgsc.bcm.edu	37	9	139568332	139568332	+	Frame_Shift_Del	DEL	T	T	-			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr9:139568332delT	ENST00000371696.2	-	6	774	c.709delA	c.(709-711)actfs	p.T237fs	AGPAT2_ENST00000538402.1_Frame_Shift_Del_p.T237fs|AGPAT2_ENST00000371694.3_Frame_Shift_Del_p.T205fs	NM_006412.3	NP_006403.2	O15120	PLCB_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 2	237					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|epidermis development (GO:0008544)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)	6	all_cancers(76;0.0893)|all_epithelial(76;0.231)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		TCCGCCGCAGTGAGGCCGCTG	0.672																																																0													38	37	37					9																	139568332		2196	4296	6492	SO:0001589	frameshift_variant	10555			AF000237	CCDS7003.1, CCDS35181.1	9q34.3	2013-02-05	2013-02-05		ENSG00000169692	ENSG00000169692	2.3.1.51	"1-acylglycerol-3-phosphate O-acyltransferases"	325	protein-coding gene	gene with protein product	"LPAAT-beta", "lysophosphatidic acid acyltransferase, beta"	603100	"Berardinelli-Seip congenital lipodystrophy", "1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta)"	BSCL		9242711, 9212163	Standard	NM_006412		Approved		uc004cii.1	O15120	OTTHUMG00000020936	ENST00000371696.2:c.709delA	chr9.hg19:g.139568332delT	ENSP00000360761:p.Thr237fs		O00516|O15106|Q5VUD3|Q5VUD4|Q9BSV7|Q9BWR7	Frame_Shift_Del	DEL	ENST00000371696.2	hg19	CCDS7003.1																																																																																				0.672	AGPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055090.1	NM_006412		-	139568332	T	-	139568332	7	5	806	1	0	1	0	1	0	0	0	0	387	1696	59	0	131	0	AGPAT2	9	139568332	Frame_Shift_Del	DEL	T	TCGA-UZ-A9PS-01A-11D-A42J-10	7860129	139568332	1645099	77	48193											
TUBB2C	10383	hgsc.bcm.edu	37	9	140137032	140137033	+	Frame_Shift_Ins	INS	-	-	A			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr9:140137032_140137033insA	ENST00000340384.4	+	4	510_511	c.362_363insA	c.(361-366)agaaagfs	p.RK121fs		NM_006088.5	NP_006079.1	P68371	TBB4B_HUMAN	tubulin, beta 4B class IVb	121					'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)	GATGTTGTGAGAAAGGAGGCTG	0.604																																																0																																										SO:0001589	frameshift_variant	10383			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.365dupA	chr9.hg19:g.140137035_140137035dupA	ENSP00000341289:p.Arg121fs		A2BFA2|P05217	Frame_Shift_Ins	INS	ENST00000340384.4	hg19	CCDS7039.1																																																																																				0.604	TUBB4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254715.1	NM_006088		A	140137033	-	A	140137032	7	5	806	1	0	1	1	0	0	0	0	0	16761	942	33	0	376	0	TUBB2C	9	140137032	Frame_Shift_Ins	INS	-	TCGA-UZ-A9PS-01A-11D-A42J-10	568700	140137032	1076399	78	48194											
UPF2	26019	hgsc.bcm.edu	37	10	11998440	11998440	+	Missense_Mutation	SNP	T	T	A			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr10:11998440T>A	ENST00000356352.2	-	12	2926	c.2453A>T	c.(2452-2454)aAt>aTt	p.N818I	UPF2_ENST00000357604.5_Missense_Mutation_p.N818I|UPF2_ENST00000397053.2_Missense_Mutation_p.N818I			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	818	MIF4G 3.|Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF3A and UPF3B.				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)				ATATTTCACATTCCAGATGTT	0.393																																																0													151	152	152					10																	11998440		2203	4300	6503	SO:0001583	missense	26019			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.2453A>T	chr10.hg19:g.11998440T>A	ENSP00000348708:p.Asn818Ile		A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Missense_Mutation	SNP	ENST00000356352.2	hg19	CCDS7086.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.433991	0.83776	.	.	ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000397053	T;T;T	0.20463	2.07;2.07;2.07	5.53	5.53	0.82687	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.37517	0.1006	L	0.60957	1.885	0.80722	D	1	P	0.49862	0.929	P	0.57204	0.815	T	0.03728	-1.1009	10	0.33141	T	0.24	.	15.6297	0.76893	0.0:0.0:0.0:1.0	.	818	Q9HAU5	RENT2_HUMAN	I	818	ENSP00000348708:N818I;ENSP00000350221:N818I;ENSP00000380244:N818I	ENSP00000348708:N818I	N	-	2	0	UPF2	12038446	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.482000	0.81143	2.097000	0.63578	0.397000	0.26171	AAT		0.393	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1			A	11998440	T	A	11998440	3	1	806	1	0	0	0	0	1	0	0	0	17009	1493	52	5	1405	5	UPF2	10	11998440	Missense_Mutation	SNP	T	TCGA-UZ-A9PS-01A-11D-A42J-10		11998440	123536307	79	48195	518	2									
UPF2	26019	hgsc.bcm.edu	37	10	11998442	11998442	+	Missense_Mutation	SNP	C	C	A	rs367800253		TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr10:11998442C>A	ENST00000356352.2	-	12	2924	c.2451G>T	c.(2449-2451)tgG>tgT	p.W817C	UPF2_ENST00000357604.5_Missense_Mutation_p.W817C|UPF2_ENST00000397053.2_Missense_Mutation_p.W817C			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	817	MIF4G 3.|Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF3A and UPF3B.				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)				ATTTCACATTCCAGATGTTTA	0.398																																																0													150	152	152					10																	11998442		2203	4300	6503	SO:0001583	missense	26019			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.2451G>T	chr10.hg19:g.11998442C>A	ENSP00000348708:p.Trp817Cys		A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Missense_Mutation	SNP	ENST00000356352.2	hg19	CCDS7086.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.224664	0.79576	.	.	ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000397053	T;T;T	0.22336	1.96;1.96;1.96	5.53	5.53	0.82687	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.46756	0.1409	M	0.67953	2.075	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.19128	-1.0315	10	0.36615	T	0.2	.	19.4313	0.94768	0.0:1.0:0.0:0.0	.	817	Q9HAU5	RENT2_HUMAN	C	817	ENSP00000348708:W817C;ENSP00000350221:W817C;ENSP00000380244:W817C	ENSP00000348708:W817C	W	-	3	0	UPF2	12038448	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.277000	0.78572	2.596000	0.87737	0.484000	0.47621	TGG		0.398	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1			A	11998442	C	A	11998442	3	1	806	1	0	0	0	0	1	0	0	0	17009	856	30	4	1407	4	UPF2	10	11998442	Missense_Mutation	SNP	C	TCGA-UZ-A9PS-01A-11D-A42J-10	2	11998442	123536305	80	48196	518	2									
ERCC6	2074	hgsc.bcm.edu	37	10	50679145	50679146	+	Frame_Shift_Ins	INS	-	-	A			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr10:50679145_50679146insA	ENST00000355832.5	-	17	3023_3024	c.2945_2946insT	c.(2944-2946)ttgfs	p.L982fs	ERCC6_ENST00000542458.1_Frame_Shift_Ins_p.L352fs|ERCC6_ENST00000465653.1_5'Flank|RP11-123B3.2_ENST00000423283.1_RNA	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	982	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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						CTCTATTTGTCAAAAACTGCTT	0.332								Direct reversal of damage;Nucleotide excision repair (NER)																																								0																																										SO:0001589	frameshift_variant	2074			L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"Cockayne syndrome B protein"	609413	"excision repair cross-complementing rodent repair deficiency, complementation group 6"	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.2946dupT	chr10.hg19:g.50679150_50679150dupA	ENSP00000348089:p.Leu982fs		D3DX94|Q5W0L9	Frame_Shift_Ins	INS	ENST00000355832.5	hg19	CCDS7229.1																																																																																				0.332	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124		A	50679146	-	A	50679145	7	5	806	1	0	1	1	0	0	0	0	0	5219	825	29	0	1555	0	ERCC6	10	50679145	Frame_Shift_Ins	INS	-	TCGA-UZ-A9PS-01A-11D-A42J-10	38680703	50679145	84855602	81	48197											
MYPN	84665	hgsc.bcm.edu	37	10	69918255	69918255	+	Missense_Mutation	SNP	T	T	A			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr10:69918255T>A	ENST00000358913.5	+	7	1818	c.1330T>A	c.(1330-1332)Ttg>Atg	p.L444M	RN7SKP202_ENST00000410439.1_RNA|MYPN_ENST00000373675.3_Missense_Mutation_p.L444M|MYPN_ENST00000354393.2_Missense_Mutation_p.L169M|MYPN_ENST00000540630.1_Missense_Mutation_p.L444M	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	444	Ig-like 2.|Interaction with CARP.				sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						GCTACAAAATTTGTCAGCTTC	0.358																																																0													87	86	86					10																	69918255		2203	4300	6503	SO:0001583	missense	84665			AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"Immunoglobulin superfamily / I-set domain containing"	23246	protein-coding gene	gene with protein product	"sarcomeric protein myopalladin, 145 kDa"	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.1330T>A	chr10.hg19:g.69918255T>A	ENSP00000351790:p.Leu444Met		Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	ENST00000358913.5	hg19	CCDS7275.1	.	.	.	.	.	.	.	.	.	.	T	16.03	3.007533	0.54361	.	.	ENSG00000138347	ENST00000354393;ENST00000542332;ENST00000358913;ENST00000540630;ENST00000373675	T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34	5.62	2.08	0.27032	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.181068	0.36482	N	0.002568	T	0.64249	0.2581	L	0.32530	0.975	0.37395	D	0.912605	D;D;D;D	0.67145	0.989;0.996;0.973;0.991	P;D;P;P	0.65010	0.847;0.931;0.822;0.906	T	0.63269	-0.6675	9	.	.	.	.	3.9856	0.09514	0.196:0.3257:0.0:0.4783	.	444;444;169;444	F5GWA6;Q86TC9-3;Q86TC9-2;Q86TC9	.;.;.;MYPN_HUMAN	M	169;169;444;444;444	ENSP00000346369:L169M;ENSP00000351790:L444M;ENSP00000441668:L444M;ENSP00000362779:L444M	.	L	+	1	2	MYPN	69588261	0.367000	0.25023	1.000000	0.80357	0.991000	0.79684	-0.022000	0.12480	0.427000	0.26145	-0.250000	0.11733	TTG		0.358	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		A	69918255	T	A	69918255	3	1	806	1	0	0	0	0	1	0	0	0	10100	1838	64	5	1352	5	MYPN	10	69918255	Missense_Mutation	SNP	T	TCGA-UZ-A9PS-01A-11D-A42J-10	19239110	69918255	65616492	82	48198											
TET1	80312	hgsc.bcm.edu	37	10	70451494	70451494	+	Missense_Mutation	SNP	T	T	G			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr10:70451494T>G	ENST00000373644.4	+	12	6543	c.6334T>G	c.(6334-6336)Tta>Gta	p.L2112V		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	2112					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AGCATTAACATTAACCCATGA	0.458																																																0													117	120	119					10																	70451494		2203	4300	6503	SO:0001583	missense	80312			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"leukemia-associated protein with a CXXC domain", "ten-eleven translocation-1"	607790	"CXXC zinc finger 6", "tet oncogene 1"	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.6334T>G	chr10.hg19:g.70451494T>G	ENSP00000362748:p.Leu2112Val		Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	hg19	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	T	14.99	2.698882	0.48307	.	.	ENSG00000138336	ENST00000373644	T	0.06218	3.33	5.59	3.33	0.38152	.	1.030220	0.07660	N	0.933448	T	0.03136	0.0092	N	0.11870	0.19	0.26401	N	0.976415	B	0.24823	0.112	B	0.24006	0.05	T	0.45789	-0.9237	10	0.07325	T	0.83	.	2.4588	0.04536	0.1167:0.0943:0.2833:0.5057	.	2112	Q8NFU7	TET1_HUMAN	V	2112	ENSP00000362748:L2112V	ENSP00000362748:L2112V	L	+	1	2	TET1	70121500	1.000000	0.71417	0.992000	0.48379	0.967000	0.64934	0.736000	0.26130	0.966000	0.38159	0.460000	0.39030	TTA		0.458	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		G	70451494	T	G	70451494	3	3	806	1	0	0	0	0	1	0	0	0	15774	1490	52	5	6376	5	TET1	10	70451494	Missense_Mutation	SNP	T	TCGA-UZ-A9PS-01A-11D-A42J-10	533239	70451494	65083253	83	48199											
C10orf11	83938	hgsc.bcm.edu	37	10	77795776	77795776	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr10:77795776G>A	ENST00000372499.1	+	2	273	c.58G>A	c.(58-60)Gga>Aga	p.G20R	C10orf11_ENST00000593699.1_3'UTR	NM_032024.3	NP_114413.1	Q9H2I8	CJ011_HUMAN	chromosome 10 open reading frame 11	20					melanocyte differentiation (GO:0030318)					endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	10	Prostate(51;0.0095)|all_epithelial(25;0.0221)					GTCACTGGAAGGACTGAGCGC	0.478											OREG0020279	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													171	149	156					10																	77795776		2203	4300	6503	SO:0001583	missense	83938			AF267860	CCDS7351.1	10q22.3	2013-08-22			ENSG00000148655	ENSG00000148655			23405	protein-coding gene	gene with protein product	"oculocutaneous albinism 7, autosomal recessive"	614537				23395477	Standard	NM_032024		Approved	CDA017, OCA7	uc001jxi.3	Q9H2I8	OTTHUMG00000018532	ENST00000372499.1:c.58G>A	chr10.hg19:g.77795776G>A	ENSP00000361577:p.Gly20Arg	1178	B1AVW6	Missense_Mutation	SNP	ENST00000372499.1	hg19	CCDS7351.1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.852066	0.71719	.	.	ENSG00000148655	ENST00000354343;ENST00000372499	T	0.66460	-0.21	4.39	4.39	0.52855	.	0.000000	0.85682	D	0.000000	D	0.83982	0.5372	M	0.87456	2.885	0.58432	D	0.999994	D	0.71674	0.998	D	0.75484	0.986	D	0.87143	0.2204	10	0.62326	D	0.03	0.031	17.848	0.88736	0.0:0.0:1.0:0.0	.	20	Q9H2I8	CJ011_HUMAN	R	48;20	ENSP00000361577:G20R	ENSP00000346310:G48R	G	+	1	0	C10orf11	77465782	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.167000	0.94773	2.382000	0.81193	0.455000	0.32223	GGA		0.478	C10orf11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048839.1	NM_032024		A	77795776	G	A	77795776	3	1	806	1	0	0	0	0	1	0	0	0	1584	1001	35	2	64	2	C10orf11	10	77795776	Missense_Mutation	SNP	G	TCGA-UZ-A9PS-01A-11D-A42J-10	7344282	77795776	57738971	84	48200											
PIK3AP1	118788	hgsc.bcm.edu	37	10	98380246	98380246	+	Missense_Mutation	SNP	T	T	C			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr10:98380246T>C	ENST00000339364.5	-	12	1923	c.1804A>G	c.(1804-1806)Acg>Gcg	p.T602A	PIK3AP1_ENST00000371110.2_Missense_Mutation_p.T424A|PIK3AP1_ENST00000371109.3_Missense_Mutation_p.T201A|RNA5SP324_ENST00000365177.1_RNA	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	602					negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		TGGCCTGGCGTTTTCATTCCC	0.567																																																0													83	76	79					10																	98380246		2203	4300	6503	SO:0001583	missense	118788			AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.1804A>G	chr10.hg19:g.98380246T>C	ENSP00000339826:p.Thr602Ala		Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Missense_Mutation	SNP	ENST00000339364.5	hg19	CCDS31259.1	.	.	.	.	.	.	.	.	.	.	T	27.2	4.806745	0.90623	.	.	ENSG00000155629	ENST00000339364;ENST00000371110;ENST00000371109	T;T;T	0.48522	0.81;0.81;0.81	5.89	5.89	0.94794	.	0.047516	0.85682	D	0.000000	T	0.58878	0.2153	L	0.52759	1.655	0.80722	D	1	P;D	0.65815	0.948;0.995	P;P	0.57371	0.562;0.819	T	0.60611	-0.7229	10	0.59425	D	0.04	-15.0229	15.4934	0.75629	0.0:0.0:0.0:1.0	.	602;201	Q6ZUJ8;Q6ZUJ8-3	BCAP_HUMAN;.	A	602;424;201	ENSP00000339826:T602A;ENSP00000360151:T424A;ENSP00000360150:T201A	ENSP00000339826:T602A	T	-	1	0	PIK3AP1	98370236	1.000000	0.71417	0.805000	0.32314	0.787000	0.44495	7.972000	0.88022	2.254000	0.74563	0.459000	0.35465	ACG		0.567	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049619.2	NM_152309		C	98380246	T	C	98380246	3	2	806	1	0	0	0	0	1	0	0	0	11910	1725	60	3	637	3	PIK3AP1	10	98380246	Missense_Mutation	SNP	T	TCGA-UZ-A9PS-01A-11D-A42J-10	20584470	98380246	37154501	85	48201											
TDRD1	56165	hgsc.bcm.edu	37	10	115964611	115964611	+	Missense_Mutation	SNP	A	A	T			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr10:115964611A>T	ENST00000369280.1	+	10	1716	c.1256A>T	c.(1255-1257)gAa>gTa	p.E419V	TDRD1_ENST00000369282.1_Missense_Mutation_p.E419V|TDRD1_ENST00000422662.1_Missense_Mutation_p.E80V|TDRD1_ENST00000251864.2_Missense_Mutation_p.E419V|TDRD1_ENST00000369281.2_Missense_Mutation_p.E419V			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	419					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)		TTGGAAGAGGAAGTGGTTACC	0.398																																																0													143	124	130					10																	115964611		2203	4300	6503	SO:0001583	missense	56165			AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"Tudor domain containing"	11712	protein-coding gene	gene with protein product	"cancer/testis antigen 41.1"	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.1256A>T	chr10.hg19:g.115964611A>T	ENSP00000358286:p.Glu419Val		A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Missense_Mutation	SNP	ENST00000369280.1	hg19		.	.	.	.	.	.	.	.	.	.	A	7.940	0.742555	0.15642	.	.	ENSG00000095627	ENST00000369282;ENST00000251864;ENST00000369281;ENST00000422662;ENST00000369280	T;T;T;T;T	0.20463	2.91;2.89;2.07;2.07;2.92	6.03	4.89	0.63831	.	0.870569	0.10238	N	0.698731	T	0.19366	0.0465	L	0.35854	1.095	0.34876	D	0.74407	B;B;B;B;B	0.14805	0.001;0.004;0.011;0.007;0.003	B;B;B;B;B	0.16289	0.012;0.007;0.007;0.015;0.008	T	0.09509	-1.0671	10	0.40728	T	0.16	-3.9984	10.6134	0.45436	0.8567:0.0:0.0:0.1433	.	80;419;419;419;419	Q9BXT4-4;Q9BXT4;B7WPM2;Q9BXT4-3;Q9BXT4-2	.;TDRD1_HUMAN;.;.;.	V	419;419;419;80;419	ENSP00000358288:E419V;ENSP00000251864:E419V;ENSP00000358287:E419V;ENSP00000402794:E80V;ENSP00000358286:E419V	ENSP00000251864:E419V	E	+	2	0	TDRD1	115954601	0.998000	0.40836	0.167000	0.22817	0.038000	0.13279	3.088000	0.50175	1.089000	0.41292	-0.301000	0.09380	GAA		0.398	TDRD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050457.2			T	115964611	A	T	115964611	3	4	806	1	0	0	0	0	1	0	0	0	15735	246	9	5	1290	5	TDRD1	10	115964611	Missense_Mutation	SNP	A	TCGA-UZ-A9PS-01A-11D-A42J-10	17584365	115964611	19570136	86	48202											
CALCA	796	hgsc.bcm.edu	37	11	14991618	14991618	+	Silent	SNP	A	A	T	rs528241428		TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr11:14991618A>T	ENST00000486207.1	-	2	98	c.90T>A	c.(88-90)tcT>tcA	p.S30S	CALCA_ENST00000359642.3_Silent_p.S30S|CALCA_ENST00000396372.2_Silent_p.S30S|CALCA_ENST00000361010.3_Silent_p.S30S|CALCB_ENST00000523376.1_Intron|CALCA_ENST00000331587.4_Silent_p.S30S			P06881	CALCA_HUMAN	calcitonin-related polypeptide alpha	30					activation of adenylate cyclase activity (GO:0007190)|cell-cell signaling (GO:0007267)|cytosolic calcium ion homeostasis (GO:0051480)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|G-protein coupled receptor internalization (GO:0002031)|leukocyte cell-cell adhesion (GO:0007159)|negative regulation of blood pressure (GO:0045776)|negative regulation of bone resorption (GO:0045779)|negative regulation of calcium ion transport into cytosol (GO:0010523)|negative regulation of osteoclast differentiation (GO:0045671)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of interleukin-1 alpha production (GO:0032730)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of vasodilation (GO:0045909)|protein phosphorylation (GO:0006468)|receptor internalization (GO:0031623)|regulation of blood pressure (GO:0008217)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	protein complex binding (GO:0032403)|receptor binding (GO:0005102)			central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	8						TCTCCAGGGCAGACCTGTGGA	0.632																																																0													34	34	34					11																	14991618		2200	4294	6494	SO:0001819	synonymous_variant	796			X00356, M64486	CCDS7819.1, CCDS31432.1	11p15.2	2014-09-17	2008-02-20		ENSG00000110680	ENSG00000110680		"Endogenous ligands"	1437	protein-coding gene	gene with protein product	"calcitonin"	114130	"calcitonin 1"	CALC1		6546550	Standard	NM_001033953		Approved		uc001mlw.1	P01258	OTTHUMG00000159731	ENST00000486207.1:c.90T>A	chr11.hg19:g.14991618A>T			Q93048|Q9UCP0	Silent	SNP	ENST00000486207.1	hg19	CCDS31432.1																																																																																				0.632	CALCA-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357068.1	NM_001741		T	14991618	A	T	14991618	2	4	806	1	0	0	0	0	0	0	0	1	2577	175	7	5		5	CALCA	11	14991618	Silent	SNP	A	TCGA-UZ-A9PS-01A-11D-A42J-10		14991618	120014898	87	48203											
IMMP1L	196294	hgsc.bcm.edu	37	11	31454087	31454087	+	Frame_Shift_Del	DEL	A	A	-			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr11:31454087delA	ENST00000278200.1	-	7	656	c.461delT	c.(460-462)ttafs	p.L154fs	IMMP1L_ENST00000534812.1_Frame_Shift_Del_p.L45fs|IMMP1L_ENST00000533642.1_Frame_Shift_Del_p.L45fs|AC108456.1_ENST00000408411.1_RNA|IMMP1L_ENST00000532287.1_Frame_Shift_Del_p.L154fs|IMMP1L_ENST00000526776.1_Frame_Shift_Del_p.L82fs	NM_144981.1	NP_659418.1	Q96LU5	IMP1L_HUMAN	IMP1 inner mitochondrial membrane peptidase-like (S. cerevisiae)	154					protein processing involved in protein targeting to mitochondrion (GO:0006627)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	serine-type peptidase activity (GO:0008236)			breast(1)|cervix(1)|large_intestine(1)|lung(4)	7	Lung SC(675;0.225)					GCTGGCACGTAAAAATCCAAA	0.338																																																0													71	67	69					11																	31454087		2202	4298	6500	SO:0001589	frameshift_variant	196294				CCDS7874.1	11p13	2014-07-30			ENSG00000148950	ENSG00000148950			26317	protein-coding gene	gene with protein product		612323					Standard	NM_144981		Approved	FLJ25059	uc001msy.1	Q96LU5	OTTHUMG00000166226	ENST00000278200.1:c.461delT	chr11.hg19:g.31454087delA	ENSP00000278200:p.Leu154fs		D3DQZ7|Q96SH9	Frame_Shift_Del	DEL	ENST00000278200.1	hg19	CCDS7874.1																																																																																				0.338	IMMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388496.1	NM_144981		-	31454087	A	-	31454087	7	5	806	1	0	1	0	1	0	0	0	0	7718	372	13	0	43	0	IMMP1L	11	31454087	Frame_Shift_Del	DEL	A	TCGA-UZ-A9PS-01A-11D-A42J-10	16462469	31454087	103552429	88	48204											
CPSF7	79869	hgsc.bcm.edu	37	11	61183972	61183972	+	Silent	SNP	A	A	G			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr11:61183972A>G	ENST00000394888.4	-	6	742	c.570T>C	c.(568-570)caT>caC	p.H190H	CPSF7_ENST00000340437.4_Silent_p.H233H|CPSF7_ENST00000439958.3_Silent_p.H181H|CPSF7_ENST00000448745.1_Silent_p.H181H	NM_001136040.2	NP_001129512.1	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	190					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						AATCTCGGGAATGGGCCCGTG	0.517																																																0													77	77	77					11																	61183972		2202	4299	6501	SO:0001819	synonymous_variant	79869				CCDS8006.2, CCDS44619.1, CCDS44620.1	11q12.2	2013-06-18			ENSG00000149532	ENSG00000149532		"RNA binding motif (RRM) containing"	30098	protein-coding gene	gene with protein product	"pre mRNA cleavage factor I, 59 kDa subunit", "cleavage factor Im complex 59 kDa subunit"					12477932	Standard	NM_024811		Approved	FLJ12529	uc001nrp.3	Q8N684	OTTHUMG00000168198	ENST00000394888.4:c.570T>C	chr11.hg19:g.61183972A>G			B3KU04|C9K0Q4|Q7Z3H9|Q9H025|Q9H9V1	Silent	SNP	ENST00000394888.4	hg19	CCDS44619.1																																																																																				0.517	CPSF7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347835.2	NM_024811		G	61183972	A	G	61183972	2	3	806	1	0	0	0	0	0	0	0	1	3832	98	4	3		3	CPSF7	11	61183972	Silent	SNP	A	TCGA-UZ-A9PS-01A-11D-A42J-10	29729885	61183972	73822544	89	48205											
SLC3A2	6520	hgsc.bcm.edu	37	11	62648555	62648556	+	Frame_Shift_Ins	INS	-	-	A			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr11:62648555_62648556insA	ENST00000377890.2	+	4	531_532	c.363_364insA	c.(364-366)aagfs	p.K122fs	SLC3A2_ENST00000535296.1_Frame_Shift_Ins_p.K91fs|SLC3A2_ENST00000377892.1_Frame_Shift_Ins_p.K153fs|SLC3A2_ENST00000536981.1_5'Flank|SLC3A2_ENST00000338663.7_Frame_Shift_Ins_p.K21fs|SLC3A2_ENST00000377889.2_Frame_Shift_Ins_p.K60fs|SLC3A2_ENST00000377891.2_Frame_Shift_Ins_p.K123fs	NM_002394.5	NP_002385.3	P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	122					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						TAGAGCCCGAGAAGCAGCCGAT	0.629											OREG0021031	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0																																										SO:0001589	frameshift_variant	6520				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.365dupA	chr11.hg19:g.62648557_62648557dupA	ENSP00000367122:p.Lys122fs	1062	Q13543	Frame_Shift_Ins	INS	ENST00000377890.2	hg19	CCDS8039.2																																																																																				0.629	SLC3A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000157306.1	NM_001012661		A	62648556	-	A	62648555	7	5	806	1	0	1	1	0	0	0	0	0	14633	933	33	0	477	0	SLC3A2	11	62648555	Frame_Shift_Ins	INS	-	TCGA-UZ-A9PS-01A-11D-A42J-10	1464583	62648555	72357961	90	48206											
PAAF1	80227	hgsc.bcm.edu	37	11	73602239	73602239	+	Missense_Mutation	SNP	C	C	T	rs369473709	byFrequency	TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr11:73602239C>T	ENST00000310571.3	+	4	328	c.275C>T	c.(274-276)aCa>aTa	p.T92I	PAAF1_ENST00000536003.1_Missense_Mutation_p.T75I|PAAF1_ENST00000544909.1_Missense_Mutation_p.T93I|PAAF1_ENST00000376384.5_Missense_Mutation_p.T75I|PAAF1_ENST00000543079.1_3'UTR|PAAF1_ENST00000544552.1_Missense_Mutation_p.T75I|PAAF1_ENST00000541951.1_5'UTR|PAAF1_ENST00000535604.1_5'UTR	NM_025155.2	NP_079431.1	Q9BRP4	PAAF1_HUMAN	proteasomal ATPase-associated factor 1	92					viral process (GO:0016032)	proteasome complex (GO:0000502)				breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(11;7.42e-05)					AGAATTCATACAAAGAGTGTA	0.269																																																0													72	68	70					11																	73602239		2197	4288	6485	SO:0001583	missense	80227			BC006142	CCDS8226.1, CCDS58157.1, CCDS58158.1	11q13.4	2013-05-21	2007-08-16	2007-08-16	ENSG00000175575	ENSG00000175575		"WD repeat domain containing"	25687	protein-coding gene	gene with protein product			"WD repeat domain 71"	WDR71		15831487, 17317272, 17289585	Standard	NM_001267803		Approved	FLJ11848, Rpn14	uc001ouk.2	Q9BRP4	OTTHUMG00000168062	ENST00000310571.3:c.275C>T	chr11.hg19:g.73602239C>T	ENSP00000311665:p.Thr92Ile		A6NDR5|B4DPB0|B7ZAS9|Q4G165|Q53HS9|Q7Z500|Q8TBU6|Q9HAB6	Missense_Mutation	SNP	ENST00000310571.3	hg19	CCDS8226.1	.	.	.	.	.	.	.	.	.	.	C	10.38	1.333327	0.24167	.	.	ENSG00000175575	ENST00000310571;ENST00000504441;ENST00000543814;ENST00000536003;ENST00000544552;ENST00000376384;ENST00000536582;ENST00000544909	T;T;T;T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14	5.96	1.58	0.23477	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	1.146690	0.06484	N	0.733427	T	0.57989	0.2091	M	0.66939	2.045	0.09310	N	1	B;B	0.13145	0.007;0.001	B;B	0.11329	0.005;0.006	T	0.49173	-0.8967	10	0.52906	T	0.07	0.3313	4.2156	0.10533	0.2415:0.3916:0.2938:0.0731	.	75;92	Q9BRP4-2;Q9BRP4	.;PAAF1_HUMAN	I	92;75;75;75;75;75;70;93	ENSP00000311665:T92I;ENSP00000439747:T75I;ENSP00000438894:T75I;ENSP00000438124:T75I;ENSP00000441494:T75I;ENSP00000365564:T75I;ENSP00000443473:T70I;ENSP00000438071:T93I	ENSP00000311665:T92I	T	+	2	0	PAAF1	73279887	0.009000	0.17119	0.929000	0.37066	0.836000	0.47400	0.864000	0.27926	0.314000	0.23086	-0.182000	0.12963	ACA		0.269	PAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397885.1	NM_025155		T	73602239	C	T	73602239	3	4	806	1	0	0	0	0	1	0	0	0	11364	478	17	2	289	2	PAAF1	11	73602239	Missense_Mutation	SNP	C	TCGA-UZ-A9PS-01A-11D-A42J-10	10953684	73602239	61404277	91	48207											
SLCO2B1	11309	hgsc.bcm.edu	37	11	74915579	74915579	+	Missense_Mutation	SNP	T	T	C			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr11:74915579T>C	ENST00000289575.5	+	14	2479	c.2084T>C	c.(2083-2085)tTg>tCg	p.L695S	SLCO2B1_ENST00000525650.1_Missense_Mutation_p.L551S|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.L468S|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.L468S|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.L673S|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.L579S	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	695					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)	GAGCAGCAATTGCTAGTGTCG	0.577																																																0													84	74	78					11																	74915579		2200	4293	6493	SO:0001583	missense	11309			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.2084T>C	chr11.hg19:g.74915579T>C	ENSP00000289575:p.Leu695Ser		A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1	Missense_Mutation	SNP	ENST00000289575.5	hg19	CCDS8235.1	.	.	.	.	.	.	.	.	.	.	T	12.95	2.092879	0.36952	.	.	ENSG00000137491	ENST00000289575;ENST00000341411;ENST00000532236;ENST00000525650;ENST00000454962;ENST00000428359	T;T;T;T;T;T	0.42900	1.13;1.14;1.26;0.96;1.14;1.13	5.34	-3.38	0.04883	.	8.866070	0.00166	N	0.000000	T	0.15478	0.0373	N	0.08118	0	0.09310	N	1	P;B;B	0.34462	0.454;0.053;0.031	B;B;B	0.24974	0.057;0.022;0.004	T	0.06752	-1.0809	10	0.09084	T	0.74	.	1.9229	0.03311	0.1969:0.4011:0.1263:0.2757	.	551;468;695	E9PPU8;O94956-2;O94956	.;.;SO2B1_HUMAN	S	695;468;579;551;468;673	ENSP00000289575:L695S;ENSP00000341286:L468S;ENSP00000434112:L579S;ENSP00000436324:L551S;ENSP00000389653:L468S;ENSP00000388912:L673S	ENSP00000289575:L695S	L	+	2	0	SLCO2B1	74593227	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-0.363000	0.07593	-0.519000	0.06444	0.460000	0.39030	TTG		0.577	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383933.1	NM_007256		C	74915579	T	C	74915579	3	2	806	1	0	0	0	0	1	0	0	0	14733	1821	63	3	2138	3	SLCO2B1	11	74915579	Missense_Mutation	SNP	T	TCGA-UZ-A9PS-01A-11D-A42J-10	1313340	74915579	60090937	92	48208											
BIRC3	330	hgsc.bcm.edu	37	11	102195478	102195478	+	Missense_Mutation	SNP	G	G	T			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr11:102195478G>T	ENST00000263464.3	+	2	2988	c.238G>T	c.(238-240)Gac>Tac	p.D80Y	BIRC3_ENST00000532808.1_Missense_Mutation_p.D80Y	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	baculoviral IAP repeat containing 3	80					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)		GAAAAGAGGAGACAGTCCTAC	0.428			T	MALT1	MALT																																		Dom	yes		11	11q22-q23	330	baculoviral IAP repeat-containing 3		L	0													139	140	139					11																	102195478		2203	4299	6502	SO:0001583	missense	330			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.238G>T	chr11.hg19:g.102195478G>T	ENSP00000263464:p.Asp80Tyr		Q16628|Q9HC27|Q9UP46	Missense_Mutation	SNP	ENST00000263464.3	hg19	CCDS8315.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.040615	0.75732	.	.	ENSG00000023445	ENST00000263464;ENST00000532808	T;T	0.09723	2.95;2.95	5.93	5.93	0.95920	Baculoviral inhibition of apoptosis protein repeat (5);	0.000000	0.85682	D	0.000000	T	0.53174	0.1780	H	0.98238	4.18	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.70710	-0.4797	10	0.87932	D	0	.	20.3334	0.98727	0.0:0.0:1.0:0.0	.	80	Q13489	BIRC3_HUMAN	Y	80	ENSP00000263464:D80Y;ENSP00000432907:D80Y	ENSP00000263464:D80Y	D	+	1	0	BIRC3	101700688	1.000000	0.71417	1.000000	0.80357	0.546000	0.35178	9.869000	0.99810	2.818000	0.97014	0.591000	0.81541	GAC		0.428	BIRC3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394159.1	NM_001165		T	102195478	G	T	102195478	3	4	806	1	0	0	0	0	1	0	0	0	1436	942	33	4	240	4	BIRC3	11	102195478	Missense_Mutation	SNP	G	TCGA-UZ-A9PS-01A-11D-A42J-10	27279899	102195478	32811038	93	48209											
ATM	472	hgsc.bcm.edu	37	11	108236079	108236079	+	Silent	SNP	A	A	T			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr11:108236079A>T	ENST00000452508.2	+	64	9204	c.9015A>T	c.(9013-9015)gtA>gtT	p.V3005V	C11orf65_ENST00000526725.1_Intron|ATM_ENST00000525178.1_3'UTR|ATM_ENST00000278616.4_Silent_p.V3005V|C11orf65_ENST00000525729.1_Intron			Q13315	ATM_HUMAN	ATM serine/threonine kinase	3005					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)	TCAACAAAGTAGCTGAACGTG	0.403			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	0													122	119	120					11																	108236079		2201	4298	6499	SO:0001819	synonymous_variant	472	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.9015A>T	chr11.hg19:g.108236079A>T			B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Silent	SNP	ENST00000452508.2	hg19	CCDS31669.1																																																																																				0.403	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		T	108236079	A	T	108236079	2	4	806	1	0	0	0	0	0	0	0	1	1109	407	15	5		5	ATM	11	108236079	Silent	SNP	A	TCGA-UZ-A9PS-01A-11D-A42J-10	6040601	108236079	26770437	94	48210											
JAM3	83700	hgsc.bcm.edu	37	11	134014786	134014786	+	Missense_Mutation	SNP	A	A	C			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr11:134014786A>C	ENST00000299106.4	+	5	668	c.509A>C	c.(508-510)cAc>cCc	p.H170P	JAM3_ENST00000524969.1_3'UTR|JAM3_ENST00000529443.2_Missense_Mutation_p.H215P|JAM3_ENST00000441717.3_Missense_Mutation_p.H119P			Q9BX67	JAM3_HUMAN	junctional adhesion molecule 3	170	Ig-like C2-type.				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)		CCCCGGCCTCACTACAGCTGG	0.542																																																0													123	105	111					11																	134014786		2201	4297	6498	SO:0001583	missense	83700			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.509A>C	chr11.hg19:g.134014786A>C	ENSP00000299106:p.His170Pro		B3KWG9|Q8WWL8|Q96FL1	Missense_Mutation	SNP	ENST00000299106.4	hg19	CCDS8494.2	.	.	.	.	.	.	.	.	.	.	A	15.40	2.822437	0.50739	.	.	ENSG00000166086	ENST00000299106;ENST00000441717;ENST00000532165	T	0.12147	2.71	5.1	2.59	0.31030	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.712485	0.14249	N	0.331596	T	0.13415	0.0325	L	0.35341	1.055	0.09310	N	0.999991	P;P	0.41524	0.753;0.753	P;P	0.48089	0.566;0.566	T	0.15178	-1.0446	10	0.30854	T	0.27	.	4.8908	0.13726	0.4689:0.2664:0.0:0.2647	.	119;170	B3KWG9;Q9BX67	.;JAM3_HUMAN	P	215;119;16	ENSP00000395742:H119P	ENSP00000299106:H215P	H	+	2	0	JAM3	133519996	0.001000	0.12720	0.703000	0.30354	0.829000	0.46940	1.746000	0.38288	0.763000	0.33175	0.533000	0.62120	CAC		0.542	JAM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393303.4	NM_032801		C	134014786	A	C	134014786	3	2	806	1	0	0	0	0	1	0	0	0	7946	159	6	5	662	5	JAM3	11	134014786	Missense_Mutation	SNP	A	TCGA-UZ-A9PS-01A-11D-A42J-10	25778707	134014786	991730	95	48211											
CNTN1	1272	hgsc.bcm.edu	37	12	41387017	41387017	+	Missense_Mutation	SNP	C	C	G	rs377022967		TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr12:41387017C>G	ENST00000551295.2	+	17	2176	c.2059C>G	c.(2059-2061)Ctg>Gtg	p.L687V	CNTN1_ENST00000347616.1_Missense_Mutation_p.L687V|CNTN1_ENST00000348761.2_Missense_Mutation_p.L676V	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	687	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.			L -> P (in Ref. 5; AA sequence). {ECO:0000305}.	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)				AACCAATACACTGGGTAGAGG	0.398																																																0													86	87	87					12																	41387017		2203	4300	6503	SO:0001583	missense	1272			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.2059C>G	chr12.hg19:g.41387017C>G	ENSP00000447006:p.Leu687Val		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	ENST00000551295.2	hg19	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	C	14.11	2.439004	0.43326	.	.	ENSG00000018236	ENST00000551295;ENST00000347616;ENST00000348761	T;T;T	0.55052	0.54;0.54;0.54	5.2	0.159	0.14968	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.41396	0.1157	N	0.03281	-0.365	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.74348	0.971;0.983	T	0.18681	-1.0329	10	0.15952	T	0.53	.	10.3176	0.43747	0.0:0.3385:0.0:0.6615	.	676;687	Q12860-2;Q12860	.;CNTN1_HUMAN	V	687;687;676	ENSP00000447006:L687V;ENSP00000325660:L687V;ENSP00000261160:L676V	ENSP00000325660:L687V	L	+	1	2	CNTN1	39673284	0.003000	0.15002	0.249000	0.24280	0.929000	0.56500	-0.024000	0.12435	0.071000	0.16664	-0.351000	0.07748	CTG		0.398	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		G	41387017	C	G	41387017	3	3	806	1	0	0	0	0	1	0	0	0	3642	564	20	4	2121	4	CNTN1	12	41387017	Missense_Mutation	SNP	C	TCGA-UZ-A9PS-01A-11D-A42J-10		41387017	92464878	96	48212											
KRT86	3892	hgsc.bcm.edu	37	12	52702335	52702335	+	Frame_Shift_Del	DEL	T	T	-			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr12:52702335delT	ENST00000423955.2	+	11	1605	c.1427delT	c.(1426-1428)gttfs	p.V476fs	RP11-845M18.6_ENST00000552441.1_RNA|KRT86_ENST00000293525.5_Frame_Shift_Del_p.V476fs|KRT86_ENST00000544024.1_Frame_Shift_Del_p.V476fs			O43790	KRT86_HUMAN	keratin 86	476	Tail.					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)		TCCGCCCGGGTTGGCGTCTGC	0.672																																																0													21	27	25					12																	52702335		2075	4201	6276	SO:0001589	frameshift_variant	3892			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.1427delT	chr12.hg19:g.52702335delT	ENSP00000444533:p.Val476fs		P78387	Frame_Shift_Del	DEL	ENST00000423955.2	hg19	CCDS41785.1																																																																																				0.672	KRT86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404911.1	NM_002284		-	52702335	T	-	52702335	7	5	806	1	0	1	0	1	0	0	0	0	8502	1725	60	0	1461	0	KRT86	12	52702335	Frame_Shift_Del	DEL	T	TCGA-UZ-A9PS-01A-11D-A42J-10	11315318	52702335	81149560	97	48213											
KRT3	3850	hgsc.bcm.edu	37	12	53188110	53188110	+	Silent	SNP	C	C	A			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr12:53188110C>A	ENST00000417996.2	-	2	725	c.651G>T	c.(649-651)cgG>cgT	p.R217R	KRT3_ENST00000309505.3_Silent_p.R217R	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	217	Coil 1A.|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						GCTCCAGGAACCGCACCTGCA	0.542																																																0													90	99	96					12																	53188110		2199	4299	6498	SO:0001819	synonymous_variant	3850				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.651G>T	chr12.hg19:g.53188110C>A			A6NIS2|Q701L8	Silent	SNP	ENST00000417996.2	hg19	CCDS44895.1																																																																																				0.542	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405930.1	NM_057088		A	53188110	C	A	53188110	2	1	806	1	0	0	0	0	0	0	0	1	8468	494	18	4		4	KRT3	12	53188110	Silent	SNP	C	TCGA-UZ-A9PS-01A-11D-A42J-10	485775	53188110	80663785	98	48214											
ATP5G2	517	hgsc.bcm.edu	37	12	54059109	54059109	+	Missense_Mutation	SNP	A	A	G			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr12:54059109A>G	ENST00000549164.1	-	5	602	c.415T>C	c.(415-417)Ttt>Ctt	p.F139L	ATP5G2_ENST00000338662.5_Missense_Mutation_p.F155L|ATP5G2_ENST00000550241.1_Intron|ATP5G2_ENST00000394349.3_Missense_Mutation_p.F196L|ATP5G2_ENST00000602871.1_Missense_Mutation_p.F139L			Q06055	AT5G2_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9)	139					ATP hydrolysis coupled proton transport (GO:0015991)|ATP synthesis coupled proton transport (GO:0015986)|response to ethanol (GO:0045471)	integral component of membrane (GO:0016021)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|lipid binding (GO:0008289)|transporter activity (GO:0005215)			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						CACATGGCAAAGAGGATGAGA	0.572																																																0													58	57	58					12																	54059109		2203	4300	6503	SO:0001583	missense	517			X69908	CCDS8863.2, CCDS31812.1	12q13.13	2012-10-12	2010-06-11		ENSG00000135390	ENSG00000135390		"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	842	protein-coding gene	gene with protein product		603193	"ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9), isoform 2", "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C2 (subunit 9)"			8328972	Standard	NM_005176		Approved		uc001sec.3	Q06055	OTTHUMG00000133442	ENST00000549164.1:c.415T>C	chr12.hg19:g.54059109A>G	ENSP00000447317:p.Phe139Leu		B3KQQ6	Missense_Mutation	SNP	ENST00000549164.1	hg19		.	.	.	.	.	.	.	.	.	.	A	35	5.594874	0.96602	.	.	ENSG00000135390	ENST00000394349;ENST00000549164;ENST00000338662	T;T;T	0.53857	0.6;0.6;0.6	5.32	5.32	0.75619	ATPase, F0/V0 complex, subunit C (3);	0.000000	0.85682	D	0.000000	T	0.68081	0.2962	M	0.85197	2.74	0.53688	D	0.999978	P;P;D	0.56968	0.891;0.945;0.978	P;P;P	0.52627	0.704;0.547;0.57	T	0.75007	-0.3469	10	0.72032	D	0.01	-18.2017	14.7093	0.69215	1.0:0.0:0.0:0.0	.	139;155;196	Q06055;Q06055-3;Q06055-2	AT5G2_HUMAN;.;.	L	196;139;155	ENSP00000377878:F196L;ENSP00000447317:F139L;ENSP00000340315:F155L	ENSP00000340315:F155L	F	-	1	0	ATP5G2	52345376	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.051000	0.93849	2.371000	0.80710	0.533000	0.62120	TTT		0.572	ATP5G2-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000407403.1	NM_005176		G	54059109	A	G	54059109	3	3	806	1	0	0	0	0	1	0	0	0	1154	72	3	3	14	3	ATP5G2	12	54059109	Missense_Mutation	SNP	A	TCGA-UZ-A9PS-01A-11D-A42J-10	870999	54059109	79792786	99	48215											
TBK1	29110	hgsc.bcm.edu	37	12	64860793	64860793	+	Missense_Mutation	SNP	T	T	G			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr12:64860793T>G	ENST00000331710.5	+	5	810	c.471T>G	c.(469-471)gaT>gaG	p.D157E		NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	157	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|dendritic cell proliferation (GO:0044565)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of gene expression (GO:0010629)|negative regulation of type I interferon production (GO:0032480)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to virus (GO:0009615)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon production (GO:0032606)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)	ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		AACTCACAGATTTTGGTGCAG	0.378																																																0													196	183	188					12																	64860793		2203	4300	6503	SO:0001583	missense	29110			AF191838	CCDS8968.1	12q14.2	2006-06-10			ENSG00000183735	ENSG00000183735			11584	protein-coding gene	gene with protein product		604834				10581243, 10783893	Standard	NM_013254		Approved	NAK	uc001ssc.2	Q9UHD2	OTTHUMG00000168796	ENST00000331710.5:c.471T>G	chr12.hg19:g.64860793T>G	ENSP00000329967:p.Asp157Glu		A8K4S4|Q8IYV3|Q9NUJ5	Missense_Mutation	SNP	ENST00000331710.5	hg19	CCDS8968.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.937682	0.73557	.	.	ENSG00000183735	ENST00000331710	D	0.92911	-3.13	5.34	0.168	0.15012	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	0.97353	0.9134	H	0.99090	4.425	0.50467	D	0.99987	D	0.63046	0.992	D	0.79108	0.992	D	0.96021	0.9009	9	.	.	.	-13.1372	10.9578	0.47368	0.0:0.3822:0.0:0.6178	.	157	Q9UHD2	TBK1_HUMAN	E	157	ENSP00000329967:D157E	.	D	+	3	2	TBK1	63147060	0.998000	0.40836	0.997000	0.53966	0.836000	0.47400	0.527000	0.22987	-0.117000	0.11872	-0.326000	0.08463	GAT		0.378	TBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401130.1	NM_013254		G	64860793	T	G	64860793	3	3	806	1	0	0	0	0	1	0	0	0	15642	1490	52	5	485	5	TBK1	12	64860793	Missense_Mutation	SNP	T	TCGA-UZ-A9PS-01A-11D-A42J-10	10801684	64860793	68991102	100	48216											
GLTP	51228	hgsc.bcm.edu	37	12	110295370	110295370	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr12:110295370G>A	ENST00000318348.4	-	3	370	c.257C>T	c.(256-258)cCc>cTc	p.P86L	GLTP_ENST00000544393.1_Intron	NM_016433.3	NP_057517.1	Q9NZD2	GLTP_HUMAN	glycolipid transfer protein	86					glycolipid transport (GO:0046836)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)|lipid binding (GO:0008289)			endometrium(1)|kidney(1)|lung(1)|upper_aerodigestive_tract(1)	4		Lung NSC(355;2.38e-06)|Breast(359;0.00354)|Myeloproliferative disorder(1001;0.0122)		BRCA - Breast invasive adenocarcinoma(302;0.0025)		CCCTACTTTGGGCCACTCTGC	0.552																																																0													89	85	86					12																	110295370		2203	4300	6503	SO:0001583	missense	51228			AF209704, AY372530	CCDS9136.1	12q24.11	2008-08-08			ENSG00000139433	ENSG00000139433			24867	protein-coding gene	gene with protein product		608949				15287756, 15901739	Standard	NM_016433		Approved		uc001tpm.3	Q9NZD2	OTTHUMG00000169278	ENST00000318348.4:c.257C>T	chr12.hg19:g.110295370G>A	ENSP00000315263:p.Pro86Leu		Q53Z13|Q96J68	Missense_Mutation	SNP	ENST00000318348.4	hg19	CCDS9136.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.77|16.77	3.214772|3.214772	0.58452|0.58452	.|.	.|.	ENSG00000139433|ENSG00000139433	ENST00000318348|ENST00000540772	.|.	.|.	.|.	4.65|4.65	4.65|4.65	0.58169|0.58169	Glycolipid transfer protein domain (3);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.70343|0.70343	0.3213|0.3213	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	B|.	0.22604|.	0.072|.	B|.	0.25405|.	0.06|.	T|T	0.69405|0.69405	-0.5154|-0.5154	9|6	0.38643|.	T|.	0.18|.	.|.	16.5324|16.5324	0.84365|0.84365	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	86|.	Q9NZD2|.	GLTP_HUMAN|.	L|S	86|70	.|.	ENSP00000315263:P86L|.	P|P	-|-	2|1	0|0	GLTP|GLTP	108779753|108779753	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	8.981000|8.981000	0.93465|0.93465	2.312000|2.312000	0.78011|0.78011	0.585000|0.585000	0.79938|0.79938	CCC|CCA		0.552	GLTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403278.2	NM_016433		A	110295370	G	A	110295370	3	1	806	1	0	0	0	0	1	0	0	0	6473	1232	43	2	384	2	GLTP	12	110295370	Missense_Mutation	SNP	G	TCGA-UZ-A9PS-01A-11D-A42J-10	45434577	110295370	23556525	101	48217											
HNF1A	6927	hgsc.bcm.edu	37	12	121434509	121434509	+	Missense_Mutation	SNP	A	A	C			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr12:121434509A>C	ENST00000257555.6	+	6	1499	c.1273A>C	c.(1273-1275)Acg>Ccg	p.T425P	HNF1A_ENST00000543427.1_Missense_Mutation_p.T308P|HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000544413.1_Missense_Mutation_p.T425P|HNF1A_ENST00000400024.2_Missense_Mutation_p.T425P|HNF1A_ENST00000402929.1_Missense_Mutation_p.T425P|HNF1A_ENST00000541395.1_Missense_Mutation_p.T425P			P20823	HNF1A_HUMAN	HNF1 homeobox A	425					glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|insulin secretion (GO:0030073)|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)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|renal glucose absorption (GO:0035623)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCTGGGTCCTACGTTCACCAA	0.637									Hepatic Adenoma, Familial Clustering of																																							0													95	74	81					12																	121434509		2203	4300	6503	SO:0001583	missense	6927	Familial Cancer Database	incl. Maturity-Onset Diabetes of the Young type 3, MODY3	M57732	CCDS9209.1	12q24.31	2014-09-17	2007-08-24	2007-08-24	ENSG00000135100	ENSG00000135100		"Homeoboxes / HNF class"	11621	protein-coding gene	gene with protein product		142410	"transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor"	MODY3, TCF1		1535333, 7795649	Standard	NM_000545		Approved	HNF1, LFB1	uc001tzg.3	P20823	OTTHUMG00000151015	ENST00000257555.6:c.1273A>C	chr12.hg19:g.121434509A>C	ENSP00000257555:p.Thr425Pro		A5Z2R8|E0YMJ5|E0YMK0|E0YMK1|E2I9R4|E2I9R5|F5H5U3|Q2M3H2|Q99861	Missense_Mutation	SNP	ENST00000257555.6	hg19	CCDS9209.1	.	.	.	.	.	.	.	.	.	.	A	17.32	3.360841	0.61403	.	.	ENSG00000135100	ENST00000257555;ENST00000535125;ENST00000544680;ENST00000537424;ENST00000543027;ENST00000543427;ENST00000545458;ENST00000541395;ENST00000340577;ENST00000344370;ENST00000544413	D;D;D;D	0.99893	-5.42;-7.57;-5.41;-5.42	4.81	4.81	0.61882	Hepatocyte nuclear factor 1, beta isoform, C-terminal (1);	0.100353	0.45126	D	0.000390	D	0.99390	0.9785	L	0.36672	1.1	0.30828	N	0.73707	P;P;P;D	0.55172	0.531;0.761;0.761;0.97	B;B;P;P	0.50314	0.259;0.312;0.582;0.637	D	0.99963	1.1771	10	0.33940	T	0.23	-13.874	5.8526	0.18701	0.8058:0.0:0.1942:0.0	.	425;425;425;425	F5H0K0;P20823;E7EUQ4;E7EMR0	.;HNF1A_HUMAN;.;.	P	425;317;425;425;246;308;425;425;425;425;425	ENSP00000257555:T425P;ENSP00000439721:T308P;ENSP00000443112:T425P;ENSP00000438804:T425P	ENSP00000257555:T425P	T	+	1	0	HNF1A	119918892	1.000000	0.71417	0.997000	0.53966	0.977000	0.68977	2.436000	0.44819	1.823000	0.53134	0.451000	0.29950	ACG		0.637	HNF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320957.5	NM_000545		C	121434509	A	C	121434509	3	2	806	1	0	0	0	0	1	0	0	0	7253	391	14	5	1295	5	HNF1A	12	121434509	Missense_Mutation	SNP	A	TCGA-UZ-A9PS-01A-11D-A42J-10	11139139	121434509	12417386	102	48218											
PSMD9	5715	hgsc.bcm.edu	37	12	122340948	122340948	+	Missense_Mutation	SNP	T	T	A			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr12:122340948T>A	ENST00000541212.1	+	4	616	c.490T>A	c.(490-492)Tct>Act	p.S164T	PSMD9_ENST00000261817.2_Missense_Mutation_p.S164T|PSMD9_ENST00000340175.5_Missense_Mutation_p.S164T|RP11-87C12.2_ENST00000546333.1_3'UTR|PSMD9_ENST00000542602.1_Missense_Mutation_p.S59T			O00233	PSMD9_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 9	164	PDZ.				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 insulin secretion (GO:0046676)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of insulin secretion (GO:0032024)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome regulatory particle assembly (GO:0070682)|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)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome regulatory particle (GO:0005838)	bHLH transcription factor binding (GO:0043425)|transcription coactivator activity (GO:0003713)			endometrium(1)|large_intestine(1)|lung(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000117)|Epithelial(86;0.000415)|BRCA - Breast invasive adenocarcinoma(302;0.231)		GGAGTTCGGCTCTGTGAACAC	0.527																																																0													169	134	146					12																	122340948		2203	4300	6503	SO:0001583	missense	5715			AB003177	CCDS9225.1, CCDS58284.1	12q24.31-q24.32	2008-05-22			ENSG00000110801	ENSG00000110801		"Proteasome (prosome, macropain) subunits"	9567	protein-coding gene	gene with protein product		603146				9653651	Standard	NM_002813		Approved	p27, Rpn4	uc001ubl.4	O00233	OTTHUMG00000168945	ENST00000541212.1:c.490T>A	chr12.hg19:g.122340948T>A	ENSP00000440485:p.Ser164Thr		B2RD35|G3V1Q6|Q9BQ42	Missense_Mutation	SNP	ENST00000541212.1	hg19	CCDS9225.1	.	.	.	.	.	.	.	.	.	.	T	17.83	3.485602	0.63962	.	.	ENSG00000110801;ENSG00000110801;ENSG00000110801;ENSG00000110801;ENSG00000256950	ENST00000541212;ENST00000340175;ENST00000261817;ENST00000544724;ENST00000542602	T;T;T;T;T	0.30182	1.54;2.39;1.69;1.54;2.39	5.6	5.6	0.85130	PDZ/DHR/GLGF (2);	0.054713	0.85682	D	0.000000	T	0.35008	0.0917	L	0.43923	1.385	0.58432	D	0.999995	B;D	0.57899	0.313;0.981	B;P	0.53360	0.279;0.724	T	0.05599	-1.0875	10	0.20046	T	0.44	-10.8784	10.947	0.47306	0.1396:0.0:0.0:0.8604	.	164;164	F8W7V8;O00233	.;PSMD9_HUMAN	T	164;164;164;75;59	ENSP00000440485:S164T;ENSP00000340847:S164T;ENSP00000261817:S164T;ENSP00000443929:S75T;ENSP00000443772:S59T	ENSP00000261817:S164T	S	+	1	0	RP11-87C12.2;PSMD9	120825331	1.000000	0.71417	1.000000	0.80357	0.657000	0.38888	4.346000	0.59367	2.129000	0.65627	0.533000	0.62120	TCT		0.527	PSMD9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401686.1	NM_002813		A	122340948	T	A	122340948	3	1	806	1	0	0	0	0	1	0	0	0	12710	1551	54	5	504	5	PSMD9	12	122340948	Missense_Mutation	SNP	T	TCGA-UZ-A9PS-01A-11D-A42J-10	906439	122340948	11510947	103	48219											
RILPL1	353116	hgsc.bcm.edu	37	12	123984011	123984011	+	Missense_Mutation	SNP	C	C	T			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr12:123984011C>T	ENST00000376874.4	-	3	768	c.533G>A	c.(532-534)cGc>cAc	p.R178H	RILPL1_ENST00000340724.6_Missense_Mutation_p.R26H	NM_178314.3	NP_847884.2	Q5EBL4	RIPL1_HUMAN	Rab interacting lysosomal protein-like 1	178					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)		GTCCTTGGCGCGGATCTCGTC	0.617																																																0													139	155	150					12																	123984011		2155	4245	6400	SO:0001583	missense	353116			AK097550	CCDS45006.1	12q24.31	2007-11-27			ENSG00000188026	ENSG00000188026			26814	protein-coding gene	gene with protein product		614092				14668488	Standard	NM_178314		Approved	FLJ39378	uc001ufe.2	Q5EBL4	OTTHUMG00000168686	ENST00000376874.4:c.533G>A	chr12.hg19:g.123984011C>T	ENSP00000366070:p.Arg178His		Q66K36|Q8N1M0	Missense_Mutation	SNP	ENST00000376874.4	hg19	CCDS45006.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.268272	0.59540	.	.	ENSG00000188026	ENST00000376874;ENST00000340724	T;T	0.30182	1.54;1.54	5.07	4.18	0.49190	.	0.000000	0.85682	D	0.000000	T	0.56949	0.2020	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	0.999;0.999;0.999	T	0.63033	-0.6727	10	0.72032	D	0.01	-1.0E-4	13.638	0.62233	0.0:0.9246:0.0:0.0754	.	154;178;27	Q5EBL4-2;Q5EBL4;Q5EBL4-3	.;RIPL1_HUMAN;.	H	178;26	ENSP00000366070:R178H;ENSP00000345874:R26H	ENSP00000345874:R26H	R	-	2	0	RILPL1	122549964	1.000000	0.71417	0.816000	0.32577	0.005000	0.04900	7.818000	0.86416	1.125000	0.41998	-0.291000	0.09656	CGC		0.617	RILPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400595.1	NM_178314		T	123984011	C	T	123984011	3	4	806	1	0	0	0	0	1	0	0	0	13367	768	27	1	698	1	RILPL1	12	123984011	Missense_Mutation	SNP	C	TCGA-UZ-A9PS-01A-11D-A42J-10	1643063	123984011	9867884	104	48220											
NCOR2	9612	hgsc.bcm.edu	37	12	124887084	124887084	+	Silent	SNP	C	C	T			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr12:124887084C>T	ENST00000405201.1	-	14	1506	c.1506G>A	c.(1504-1506)caG>caA	p.Q502Q	NCOR2_ENST00000356219.3_Silent_p.Q502Q|NCOR2_ENST00000397355.1_Silent_p.Q502Q|NCOR2_ENST00000404621.1_Silent_p.Q501Q|NCOR2_ENST00000429285.2_Silent_p.Q501Q|NCOR2_ENST00000404121.2_Silent_p.Q72Q			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	502	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)			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)		gctgctgctgctgctgctgct	0.617																																																0													9	12	11					12																	124887084		2067	4185	6252	SO:0001819	synonymous_variant	9612			U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"nuclear receptor co-repressor 2"			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.1506G>A	chr12.hg19:g.124887084C>T			O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Silent	SNP	ENST00000405201.1	hg19	CCDS41858.2																																																																																				0.617	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		T	124887084	C	T	124887084	2	4	806	1	0	0	0	0	0	0	0	1	10238	796	28	2		2	NCOR2	12	124887084	Silent	SNP	C	TCGA-UZ-A9PS-01A-11D-A42J-10	903073	124887084	8964811	105	48221											
RIMBP2	23504	hgsc.bcm.edu	37	12	130921476	130921476	+	Missense_Mutation	SNP	G	G	T			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr12:130921476G>T	ENST00000261655.4	-	10	2129	c.1966C>A	c.(1966-1968)Ctg>Atg	p.L656M	RIMBP2_ENST00000535703.1_Missense_Mutation_p.L564M|RIMBP2_ENST00000536002.1_Missense_Mutation_p.L564M	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	656	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)		GGCTGTGGCAGGATGCGGCTG	0.731																																																0													12	17	15					12																	130921476		2182	4275	6457	SO:0001583	missense	23504			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.1966C>A	chr12.hg19:g.130921476G>T	ENSP00000261655:p.Leu656Met		Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	hg19	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.240944	0.58995	.	.	ENSG00000060709	ENST00000261655;ENST00000392375;ENST00000535703;ENST00000536002	T;T;T	0.22336	1.96;2.46;2.46	4.63	3.75	0.43078	.	0.084015	0.49305	D	0.000146	T	0.42944	0.1225	M	0.66939	2.045	0.47094	D	0.999317	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.97110	0.997;1.0;0.997	T	0.28776	-1.0033	10	0.49607	T	0.09	-23.8929	12.9334	0.58301	0.0794:0.0:0.9206:0.0	.	564;564;656	C9JWN3;O15034-2;O15034	.;.;RIMB2_HUMAN	M	656;564;564;564	ENSP00000261655:L656M;ENSP00000440347:L564M;ENSP00000439159:L564M	ENSP00000261655:L656M	L	-	1	2	RIMBP2	129487429	1.000000	0.71417	1.000000	0.80357	0.503000	0.33858	6.415000	0.73328	0.952000	0.37798	-0.224000	0.12420	CTG		0.731	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		T	130921476	G	T	130921476	3	4	806	1	0	0	0	0	1	0	0	0	13369	991	35	4	1232	4	RIMBP2	12	130921476	Missense_Mutation	SNP	G	TCGA-UZ-A9PS-01A-11D-A42J-10	6034392	130921476	2930419	106	48222											
PGAM5	192111	hgsc.bcm.edu	37	12	133291557	133291557	+	Missense_Mutation	SNP	T	T	A			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr12:133291557T>A	ENST00000498926.2	+	2	363	c.305T>A	c.(304-306)cTc>cAc	p.L102H	PGAM5_ENST00000317555.2_Missense_Mutation_p.L102H|PGAM5_ENST00000454808.2_5'UTR|PXMP2_ENST00000545677.1_Silent_p.P141P|PGAM5_ENST00000543955.1_5'UTR	NM_001170543.1|NM_001170544.1	NP_001164014.1|NP_001164015.1	Q96HS1	PGAM5_HUMAN	phosphoglycerate mutase family member 5	102					dephosphorylation (GO:0016311)|necroptotic process (GO:0070266)|positive regulation of GTPase activity (GO:0043547)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|protein complex binding (GO:0032403)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.89e-08)|Epithelial(86;1.14e-07)|all cancers(50;3.57e-06)		CACATCTTCCTCATCAGGCAT	0.587																																																0													138	92	108					12																	133291557		2202	4300	6502	SO:0001583	missense	192111			BC008196	CCDS9280.1, CCDS53845.1	12q24.33	2011-07-28			ENSG00000247077	ENSG00000247077			28763	protein-coding gene	gene with protein product		614939				11283018	Standard	NM_001170543		Approved	MGC5352, BXLBv68	uc009zyv.3	Q96HS1	OTTHUMG00000168021	ENST00000498926.2:c.305T>A	chr12.hg19:g.133291557T>A	ENSP00000438465:p.Leu102His		A9LN06|C9IZY7|Q96JB0	Missense_Mutation	SNP	ENST00000498926.2	hg19	CCDS53845.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.609079	0.87258	.	.	ENSG00000247077	ENST00000317555;ENST00000498926	T;T	0.80738	0.33;-1.41	4.64	4.64	0.57946	Histidine phosphatase superfamily, clade-1 (2);	0.000000	0.85682	D	0.000000	D	0.93539	0.7938	H	0.98333	4.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	D	0.95728	0.8772	10	0.87932	D	0	-4.5906	14.0667	0.64834	0.0:0.0:0.0:1.0	.	102;102	Q96HS1;Q96HS1-2	PGAM5_HUMAN;.	H	102	ENSP00000321503:L102H;ENSP00000438465:L102H	ENSP00000321503:L102H	L	+	2	0	PGAM5	131801630	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.658000	0.83755	1.735000	0.51646	0.379000	0.24179	CTC		0.587	PGAM5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397562.1	NM_138575		A	133291557	T	A	133291557	3	1	806	1	0	0	0	0	1	0	0	0	11778	1551	54	5	311	5	PGAM5	12	133291557	Missense_Mutation	SNP	T	TCGA-UZ-A9PS-01A-11D-A42J-10	2370081	133291557	560338	107	48223											
TM9SF2	9375	hgsc.bcm.edu	37	13	100172311	100172311	+	Frame_Shift_Del	DEL	A	A	-			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr13:100172311delA	ENST00000376387.4	+	3	451	c.261delA	c.(259-261)tcafs	p.S87fs	TM9SF2_ENST00000463709.1_3'UTR	NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	87					transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					GCCAAGCATCAGAAGGAAAGC	0.353																																																0													75	75	75					13																	100172311		2203	4300	6503	SO:0001589	frameshift_variant	9375			U81006	CCDS9493.1	13q32.2	2011-03-28			ENSG00000125304	ENSG00000125304			11865	protein-coding gene	gene with protein product		604678				9729438	Standard	NM_004800		Approved	P76	uc001voj.2	Q99805	OTTHUMG00000017272	ENST00000376387.4:c.261delA	chr13.hg19:g.100172311delA	ENSP00000365567:p.Ser87fs		A8K399|Q2TAY5	Frame_Shift_Del	DEL	ENST00000376387.4	hg19	CCDS9493.1																																																																																				0.353	TM9SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045602.3			-	100172311	A	-	100172311	7	5	806	1	0	1	0	1	0	0	0	0	15983	175	7	0	271	0	TM9SF2	13	100172311	Frame_Shift_Del	DEL	A	TCGA-UZ-A9PS-01A-11D-A42J-10		100172311	14997567	108	48224											
MDP1	145553	hgsc.bcm.edu	37	14	24683307	24683307	+	Missense_Mutation	SNP	G	G	C			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr14:24683307G>C	ENST00000288087.7	-	6	565	c.454C>G	c.(454-456)Caa>Gaa	p.Q152E	CHMP4A_ENST00000609024.1_5'Flank|CHMP4A_ENST00000530996.1_5'Flank|MDP1_ENST00000396833.2_Nonsense_Mutation_p.S105*|NEDD8-MDP1_ENST00000534348.1_Missense_Mutation_p.Q169E|MDP1_ENST00000532557.1_5'UTR|AL136419.6_ENST00000565988.1_RNA|NEDD8-MDP1_ENST00000604306.1_5'Flank|CHMP4A_ENST00000347519.6_5'Flank|CHMP4A_ENST00000542700.2_5'Flank|TM9SF1_ENST00000530611.1_5'Flank|TM9SF1_ENST00000556387.1_5'Flank	NM_001199822.1|NM_138476.3	NP_001186751.1|NP_612485.2	Q86V88	MGDP1_HUMAN	magnesium-dependent phosphatase 1	152						extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|large_intestine(2)|lung(3)	7						TCTAACCCTTGACTTAGAGTT	0.433																																																0													82	82	82					14																	24683307		2203	4300	6503	SO:0001583	missense	145553			BC046912	CCDS9620.1, CCDS55908.1	14q12	2009-07-09			ENSG00000213920	ENSG00000213920			28781	protein-coding gene	gene with protein product	"fructosamine-6-phosphatase"					10889041, 16670083	Standard	NM_138476		Approved	MGC5987, FN6Pase		Q86V88	OTTHUMG00000133477	ENST00000288087.7:c.454C>G	chr14.hg19:g.24683307G>C	ENSP00000288087:p.Gln152Glu		Q86Y84|Q8NAD9	Nonsense_Mutation	SNP	ENST00000288087.7	hg19	CCDS9620.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.69|18.69	3.677241|3.677241	0.68042|0.68042	.|.	.|.	ENSG00000213920;ENSG00000255526|ENSG00000213920	ENST00000288087;ENST00000534348|ENST00000396833	D|.	0.97114|.	-4.25|.	5.25|5.25	3.22|3.22	0.36961|0.36961	HAD-like domain (1);|.	0.317545|.	0.17362|.	U|.	0.177013|.	T|.	0.27663|.	0.0680|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|.	0.13495|.	-1.0507|.	9|.	0.06365|0.02654	T|T	0.9|1	-8.3948|-8.3948	7.5144|7.5144	0.27592|0.27592	0.0:0.1719:0.6255:0.2025|0.0:0.1719:0.6255:0.2025	.|.	152|.	Q86V88|.	MGDP1_HUMAN|.	E|X	152;169|105	ENSP00000288087:Q152E|.	ENSP00000288087:Q152E|ENSP00000380045:S105X	Q|S	-|-	1|2	0|0	MDP1;NEDD8-MDP1|MDP1	23753147|23753147	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	1.295000|1.295000	0.33377|0.33377	1.398000|1.398000	0.46701|0.46701	0.655000|0.655000	0.94253|0.94253	CAA|TCA		0.433	MDP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257367.1	NM_138476		C	24683307	G	C	24683307	3	2	806	1	0	0	0	0	1	0	0	0	9418	1299	45	4	80	4	MDP1	14	24683307	Missense_Mutation	SNP	G	TCGA-UZ-A9PS-01A-11D-A42J-10		24683307	82666233	109	48225											
COQ6	51004	hgsc.bcm.edu	37	14	74426189	74426189	+	Silent	SNP	T	T	C			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr14:74426189T>C	ENST00000334571.2	+	8	895	c.855T>C	c.(853-855)gaT>gaC	p.D285D	ENTPD5_ENST00000557325.1_3'UTR|COQ6_ENST00000554920.1_Intron|COQ6_ENST00000238709.4_Silent_p.D210D|COQ6_ENST00000394026.4_Silent_p.D260D	NM_182476.2	NP_872282.1	Q9Y2Z9	COQ6_HUMAN	coenzyme Q6 monooxygenase	285					small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	cell projection (GO:0042995)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|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)			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(234;0.00337)		TTAGCATGGATGAGGAAAAAT	0.458																																																0													256	224	235					14																	74426189		2203	4300	6503	SO:0001819	synonymous_variant	51004			AF132944	CCDS9823.1, CCDS9824.1, CCDS9824.2	14q24.1	2013-05-01	2013-05-01		ENSG00000119723	ENSG00000119723			20233	protein-coding gene	gene with protein product		614647	"coenzyme Q6 homolog (yeast)", "coenzyme Q6 homolog, monooxygenase (yeast)", "coenzyme Q6 homolog, monooxygenase (S. cerevisiae)"			21540551	Standard	NM_182476		Approved	CGI-10	uc001xph.3	Q9Y2Z9	OTTHUMG00000171260	ENST00000334571.2:c.855T>C	chr14.hg19:g.74426189T>C			B7Z3K8|Q53GG6|Q86U30|Q96CA1|Q96CK2	Silent	SNP	ENST00000334571.2	hg19	CCDS9823.1																																																																																				0.458	COQ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412616.1			C	74426189	T	C	74426189	2	2	806	1	0	0	0	0	0	0	0	1	3751	1461	51	3		3	COQ6	14	74426189	Silent	SNP	T	TCGA-UZ-A9PS-01A-11D-A42J-10	49742882	74426189	32923351	110	48226											
PPP4R4	57718	hgsc.bcm.edu	37	14	94722854	94722854	+	Silent	SNP	T	T	C			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr14:94722854T>C	ENST00000304338.3	+	17	2077	c.1923T>C	c.(1921-1923)gaT>gaC	p.D641D		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	641					negative regulation of phosphoprotein phosphatase activity (GO:0032515)|regulation of protein serine/threonine phosphatase activity (GO:0080163)	cytoplasm (GO:0005737)|protein serine/threonine phosphatase complex (GO:0008287)	protein phosphatase regulator activity (GO:0019888)			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						TTCCTGCTGATAAGCATCTAC	0.343																																																0													102	107	105					14																	94722854		2203	4300	6503	SO:0001819	synonymous_variant	57718			AB046842, BC068491	CCDS9921.1, CCDS9922.1	14q32.2	2014-07-18	2008-09-16	2008-09-16	ENSG00000119698	ENSG00000119698		"Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"	23788	protein-coding gene	gene with protein product	"cilia and flagella associated protein 14"		"KIAA1622"	KIAA1622		18715871	Standard	NM_020958		Approved	PP4R4, CFAP14	uc001ycs.1	Q6NUP7		ENST00000304338.3:c.1923T>C	chr14.hg19:g.94722854T>C			Q9BUF8|Q9HCF0	Silent	SNP	ENST00000304338.3	hg19	CCDS9921.1																																																																																				0.343	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413056.1	NM_058237		C	94722854	T	C	94722854	2	2	806	1	0	0	0	0	0	0	0	1	12410	1403	49	3		3	PPP4R4	14	94722854	Silent	SNP	T	TCGA-UZ-A9PS-01A-11D-A42J-10	20296665	94722854	12626686	111	48227											
TP53BP1	7158	hgsc.bcm.edu	37	15	43714077	43714077	+	Missense_Mutation	SNP	G	G	C			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr15:43714077G>C	ENST00000263801.3	-	19	4313	c.4061C>G	c.(4060-4062)tCc>tGc	p.S1354C	TP53BP1_ENST00000382044.4_Missense_Mutation_p.S1359C|TP53BP1_ENST00000450115.2_Missense_Mutation_p.S1359C|TP53BP1_ENST00000382039.3_Missense_Mutation_p.S1359C	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1354					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)		GCCTCCTCGGGAGCTGGGTAA	0.562								Other conserved DNA damage response genes																																								0													63	66	65					15																	43714077		2201	4298	6499	SO:0001583	missense	7158			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"tumor protein p53-binding protein, 1"			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.4061C>G	chr15.hg19:g.43714077G>C	ENSP00000263801:p.Ser1354Cys		F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	ENST00000263801.3	hg19	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.034770	0.54896	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115	T;T;T;T	0.04917	3.58;3.58;3.53;3.58	5.71	5.71	0.89125	.	0.308734	0.33670	N	0.004678	T	0.10337	0.0253	N	0.19112	0.55	0.33853	D	0.63282	D;D;D;D	0.76494	0.997;0.993;0.999;0.996	P;P;P;P	0.56216	0.781;0.628;0.794;0.794	T	0.05484	-1.0882	10	0.59425	D	0.04	-8.8598	14.0939	0.65008	0.0:0.2469:0.7531:0.0	.	1359;1354;1359;1359	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	C	1354;1359;1359;1359	ENSP00000263801:S1354C;ENSP00000371475:S1359C;ENSP00000371470:S1359C;ENSP00000393497:S1359C	ENSP00000263801:S1354C	S	-	2	0	TP53BP1	41501369	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.367000	0.44213	2.860000	0.98153	0.655000	0.94253	TCC		0.562	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			C	43714077	G	C	43714077	3	2	806	1	0	0	0	0	1	0	0	0	16388	1174	41	4	1897	4	TP53BP1	15	43714077	Missense_Mutation	SNP	G	TCGA-UZ-A9PS-01A-11D-A42J-10		43714077	58817315	112	48228											
GOLGA6A	342096	hgsc.bcm.edu	37	15	74367328	74367328	+	Frame_Shift_Del	DEL	G	G	-			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr15:74367328delG	ENST00000290438.3	-	11	902	c.862delC	c.(862-864)ctgfs	p.L288fs	RN7SL429P_ENST00000479090.2_RNA	NM_001038640.2	NP_001033729.2	Q9NYA3	GOG6A_HUMAN	golgin A6 family, member A	288						Golgi apparatus (GO:0005794)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1)	16						GGGGGCGCCAGGGATGGGGGC	0.547																																																0													7	10	9					15																	74367328		1445	3996	5441	SO:0001589	frameshift_variant	342096			AF263742	CCDS32290.1	15q24.1	2013-05-10	2010-02-12	2009-09-28	ENSG00000159289	ENSG00000159289			13567	protein-coding gene	gene with protein product		610288	"golgi autoantigen, golgin subfamily a, member 6", "golgi autoantigen, golgin subfamily a, 6", "golgi autoantigen, golgin subfamily a, 6A"	GOLGA6		11161787	Standard	NM_001038640		Approved	GLP	uc002axa.1	Q9NYA3	OTTHUMG00000173035	ENST00000290438.3:c.862delC	chr15.hg19:g.74367328delG	ENSP00000290438:p.Leu288fs		A8K959|Q9NYA7	Frame_Shift_Del	DEL	ENST00000290438.3	hg19	CCDS32290.1																																																																																				0.547	GOLGA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421835.1	XM_292357		-	74367328	G	-	74367328	7	5	806	1	0	1	0	1	0	0	0	0	6559	991	35	0	1251	0	GOLGA6A	15	74367328	Frame_Shift_Del	DEL	G	TCGA-UZ-A9PS-01A-11D-A42J-10	30653251	74367328	28164064	113	48229	519	2									
GOLGA6A	342096	hgsc.bcm.edu	37	15	74367333	74367333	+	Frame_Shift_Del	DEL	G	G	-			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr15:74367333delG	ENST00000290438.3	-	11	897	c.857delC	c.(856-858)ccafs	p.P286fs	RN7SL429P_ENST00000479090.2_RNA	NM_001038640.2	NP_001033729.2	Q9NYA3	GOG6A_HUMAN	golgin A6 family, member A	286						Golgi apparatus (GO:0005794)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1)	16						CGCCAGGGATGGGGGCTCAGC	0.542																																																0													7	10	9					15																	74367333		1445	3996	5441	SO:0001589	frameshift_variant	342096			AF263742	CCDS32290.1	15q24.1	2013-05-10	2010-02-12	2009-09-28	ENSG00000159289	ENSG00000159289			13567	protein-coding gene	gene with protein product		610288	"golgi autoantigen, golgin subfamily a, member 6", "golgi autoantigen, golgin subfamily a, 6", "golgi autoantigen, golgin subfamily a, 6A"	GOLGA6		11161787	Standard	NM_001038640		Approved	GLP	uc002axa.1	Q9NYA3	OTTHUMG00000173035	ENST00000290438.3:c.857delC	chr15.hg19:g.74367333delG	ENSP00000290438:p.Pro286fs		A8K959|Q9NYA7	Frame_Shift_Del	DEL	ENST00000290438.3	hg19	CCDS32290.1																																																																																				0.542	GOLGA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421835.1	XM_292357		-	74367333	G	-	74367333	7	5	806	1	0	1	0	1	0	0	0	0	6559	1348	47	0	1256	0	GOLGA6A	15	74367333	Frame_Shift_Del	DEL	G	TCGA-UZ-A9PS-01A-11D-A42J-10	5	74367333	28164059	114	48230	519	2									
POLG	5428	hgsc.bcm.edu	37	15	89861981	89861981	+	Splice_Site	SNP	C	C	G			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr15:89861981C>G	ENST00000268124.5	-	21	3607		c.e21-1		POLG_ENST00000442287.2_Splice_Site	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma						aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			TGGTCATAAACTGGGAAGGGA	0.507								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)											0													71	68	69					15																	89861981		2200	4299	6499	SO:0001630	splice_region_variant	5428			X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"DNA polymerases"	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.3274-1G>C	chr15.hg19:g.89861981C>G			Q8NFM2|Q92515	Splice_Site	SNP	ENST00000268124.5	hg19	CCDS10350.1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.315677	0.60524	.	.	ENSG00000140521	ENST00000268124;ENST00000442287	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.037	0.92983	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	POLG	87662985	1.000000	0.71417	0.999000	0.59377	0.663000	0.39108	7.320000	0.79064	2.738000	0.93877	0.655000	0.94253	.		0.507	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000312854.2	NM_002693	Intron	G	89861981	C	G	89861981	5	3	806	1	0	0	0	0	0	0	1	0	12202	579	20	4	458	4	POLG	15	89861981	Splice_Site	SNP	C	TCGA-UZ-A9PS-01A-11D-A42J-10	15494648	89861981	12669411	115	48231											
RGMA	56963	hgsc.bcm.edu	37	15	93595536	93595536	+	Missense_Mutation	SNP	C	C	G			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr15:93595536C>G	ENST00000329082.7	-	3	603	c.332G>C	c.(331-333)aGc>aCc	p.S111T	RGMA_ENST00000543599.1_Missense_Mutation_p.S95T|RGMA_ENST00000556087.1_Missense_Mutation_p.S95T|RGMA_ENST00000538818.1_Missense_Mutation_p.S2T|RGMA_ENST00000556658.1_Missense_Mutation_p.S2T|RGMA_ENST00000555584.1_5'UTR|RGMA_ENST00000425933.2_Missense_Mutation_p.S95T|RGMA_ENST00000557301.1_Missense_Mutation_p.S119T|RGMA_ENST00000557420.1_Intron|RGMA_ENST00000542321.2_Missense_Mutation_p.S95T	NM_020211.2	NP_064596	Q96B86	RGMA_HUMAN	repulsive guidance molecule family member a	111					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|neural tube closure (GO:0001843)|regulation of BMP signaling pathway (GO:0030510)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			GTTGTGCTGGCTCATGAGGTC	0.706																																																0													24	29	27					15																	93595536		2185	4291	6476	SO:0001583	missense	56963			AL390083	CCDS45357.1, CCDS53973.1, CCDS53974.1	15q26.1	2013-11-06	2013-11-06			ENSG00000182175			30308	protein-coding gene	gene with protein product		607362	"RGM domain family, member A"			15975920	Standard	NM_020211		Approved	RGM, RGMa	uc010urc.2	Q96B86		ENST00000329082.7:c.332G>C	chr15.hg19:g.93595536C>G	ENSP00000330005:p.Ser111Thr		B2RTW1|B7Z5S8|F5GXQ7|F5GZU6|G3V518|Q0JV97|Q8NC80|Q9H0E6|Q9NPM3	Missense_Mutation	SNP	ENST00000329082.7	hg19	CCDS45357.1	.	.	.	.	.	.	.	.	.	.	C	8.229	0.804169	0.16467	.	.	ENSG00000182175	ENST00000543599;ENST00000425933;ENST00000329082;ENST00000542321;ENST00000538818;ENST00000557301	D;D;D;D;D;D	0.97455	-4.39;-4.39;-4.39;-4.39;-4.39;-4.39	5.15	4.23	0.50019	Repulsive guidance molecule, N-terminal (1);	0.091755	0.85682	D	0.000000	D	0.94318	0.8174	L	0.49126	1.545	0.41814	D	0.989988	P;P	0.36438	0.498;0.553	B;B	0.40782	0.23;0.34	D	0.90471	0.4453	10	0.22109	T	0.4	-1.9022	5.7538	0.18162	0.1399:0.6452:0.1359:0.079	.	119;111	G3V518;Q96B86	.;RGMA_HUMAN	T	95;95;111;95;2;119	ENSP00000442498:S95T;ENSP00000404442:S95T;ENSP00000330005:S111T;ENSP00000440025:S95T;ENSP00000442546:S2T;ENSP00000452126:S119T	ENSP00000330005:S111T	S	-	2	0	RGMA	91396540	0.997000	0.39634	1.000000	0.80357	0.997000	0.91878	0.555000	0.23422	1.175000	0.42826	0.462000	0.41574	AGC		0.706	RGMA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000415091.1	NM_020211		G	93595536	C	G	93595536	3	3	806	1	0	0	0	0	1	0	0	0	13286	797	28	4	1028	4	RGMA	15	93595536	Missense_Mutation	SNP	C	TCGA-UZ-A9PS-01A-11D-A42J-10	3733555	93595536	8935856	116	48232											
SMPD3	55512	hgsc.bcm.edu	37	16	68405641	68405641	+	Silent	SNP	T	T	C			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr16:68405641T>C	ENST00000219334.5	-	3	1047	c.444A>G	c.(442-444)caA>caG	p.Q148Q	SMPD3_ENST00000566009.1_5'Flank|SMPD3_ENST00000563226.1_Silent_p.Q148Q|SMPD3_ENST00000568373.1_Silent_p.Q148Q	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	148					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)	TGGCCCGCGCTTGGGTGTTAA	0.607																																																0													23	27	26					16																	68405641		2198	4300	6498	SO:0001819	synonymous_variant	55512			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.444A>G	chr16.hg19:g.68405641T>C			B7ZL82|Q2M1S8	Silent	SNP	ENST00000219334.5	hg19	CCDS10867.1																																																																																				0.607	SMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268895.3	NM_018667		C	68405641	T	C	68405641	2	2	806	1	0	0	0	0	0	0	0	1	14812	1606	56	3		3	SMPD3	16	68405641	Silent	SNP	T	TCGA-UZ-A9PS-01A-11D-A42J-10		68405641	21949112	117	48233	520	2									
SMPD3	55512	hgsc.bcm.edu	37	16	68405649	68405649	+	Missense_Mutation	SNP	T	T	G			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr16:68405649T>G	ENST00000219334.5	-	3	1039	c.436A>C	c.(436-438)Aac>Cac	p.N146H	SMPD3_ENST00000566009.1_5'Flank|SMPD3_ENST00000563226.1_Missense_Mutation_p.N146H|SMPD3_ENST00000568373.1_Missense_Mutation_p.N146H	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	146					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)	GCTTGGGTGTTAAAAAGGTTG	0.587																																																0													21	25	24					16																	68405649		2198	4300	6498	SO:0001583	missense	55512			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.436A>C	chr16.hg19:g.68405649T>G	ENSP00000219334:p.Asn146His		B7ZL82|Q2M1S8	Missense_Mutation	SNP	ENST00000219334.5	hg19	CCDS10867.1	.	.	.	.	.	.	.	.	.	.	T	7.498	0.651973	0.14516	.	.	ENSG00000103056	ENST00000219334	T	0.50001	0.76	5.24	4.11	0.48088	.	0.170687	0.64402	N	0.000005	T	0.31327	0.0793	N	0.20881	0.62	0.40830	D	0.983588	B;B;B	0.12630	0.006;0.006;0.006	B;B;B	0.08055	0.003;0.003;0.003	T	0.07947	-1.0746	10	0.23891	T	0.37	-22.7541	10.5661	0.45173	0.0:0.0:0.1623:0.8377	.	146;146;146	B7ZL82;B7ZL84;Q9NY59	.;.;NSMA2_HUMAN	H	146	ENSP00000219334:N146H	ENSP00000219334:N146H	N	-	1	0	SMPD3	66963150	1.000000	0.71417	0.879000	0.34478	0.943000	0.58893	1.979000	0.40608	0.898000	0.36418	0.533000	0.62120	AAC		0.587	SMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268895.3	NM_018667		G	68405649	T	G	68405649	3	3	806	1	0	0	0	0	1	0	0	0	14812	1754	61	5	1559	5	SMPD3	16	68405649	Missense_Mutation	SNP	T	TCGA-UZ-A9PS-01A-11D-A42J-10	8	68405649	21949104	118	48234	520	2									
PKD1L2	114780	hgsc.bcm.edu	37	16	81219237	81219237	+	RNA	SNP	C	C	A			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr16:81219237C>A	ENST00000525539.1	-	0	1856				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						CTGGAACCACCAGCTCCCTCT	0.602																																																0													28	37	34					16																	81219237		2054	4211	6265			114780			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		chr16.hg19:g.81219237C>A			Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Silent	SNP	ENST00000525539.1	hg19		.	.	.	.	.	.	.	.	.	.	C	2.794	-0.250742	0.05867	.	.	ENSG00000166473	ENST00000526632	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	T	0.63977	0.2557	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62817	-0.6774	4	.	.	.	-11.14	12.4984	0.55942	0.0:0.832:0.168:0.0	.	.	.	.	C	147	.	.	G	-	1	0	PKD1L2	79776738	0.992000	0.36948	0.998000	0.56505	0.243000	0.25628	1.525000	0.35953	2.241000	0.73720	0.551000	0.68910	GGT		0.602	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			A	81219237	C	A	81219237	1	1	806	0	1	0	0	0	0	0	0	0	11967	581	21	4		4	PKD1L2	16	81219237	RNA	SNP	C	TCGA-UZ-A9PS-01A-11D-A42J-10	12813588	81219237	9135516	119	48235											
SPNS3	201305	hgsc.bcm.edu	37	17	4343008	4343008	+	Missense_Mutation	SNP	G	G	C			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr17:4343008G>C	ENST00000355530.2	+	2	535	c.255G>C	c.(253-255)ttG>ttC	p.L85F	SPNS3_ENST00000576069.1_3'UTR|SPNS3_ENST00000333476.2_Missense_Mutation_p.C4S	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	85					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						ATGCTGGTTTGCTTCAGACTG	0.582																																																0													58	49	52					17																	4343008		2203	4300	6503	SO:0001583	missense	201305				CCDS11045.1	17p13.2	2014-08-12			ENSG00000182557	ENSG00000182557			28433	protein-coding gene	gene with protein product		611701					Standard	NM_182538		Approved	MGC29671	uc002fxt.3	Q6ZMD2	OTTHUMG00000177737	ENST00000355530.2:c.255G>C	chr17.hg19:g.4343008G>C	ENSP00000347721:p.Leu85Phe		Q8IZ31	Missense_Mutation	SNP	ENST00000355530.2	hg19	CCDS11045.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.05|17.05	3.289082|3.289082	0.59976|0.59976	.|.	.|.	ENSG00000182557|ENSG00000182557	ENST00000333476|ENST00000355530	T|T	0.25579|0.61980	1.79|0.06	4.31|4.31	3.33|3.33	0.38152|0.38152	.|Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	.|0.161988	.|0.40554	.|N	.|0.001061	T|T	0.74680|0.74680	0.3748|0.3748	M|M	0.75777|0.75777	2.31|2.31	0.24745|0.24745	N|N	0.993014|0.993014	B|D	0.18013|0.67145	0.025|0.996	B|D	0.16289|0.74023	0.015|0.982	T|T	0.65010|0.65010	-0.6272|-0.6272	9|10	0.07813|0.87932	T|D	0.8|0	-8.5223|-8.5223	8.7516|8.7516	0.34620|0.34620	0.1093:0.0:0.8907:0.0|0.1093:0.0:0.8907:0.0	.|.	4|85	Q6ZMD2-2|Q6ZMD2	.|SPNS3_HUMAN	S|F	4|85	ENSP00000333207:C4S|ENSP00000347721:L85F	ENSP00000333207:C4S|ENSP00000347721:L85F	C|L	+|+	2|3	0|2	SPNS3|SPNS3	4289757|4289757	0.836000|0.836000	0.29430|0.29430	1.000000|1.000000	0.80357|0.80357	0.959000|0.959000	0.62525|0.62525	-0.176000|-0.176000	0.09811|0.09811	1.115000|1.115000	0.41800|0.41800	0.650000|0.650000	0.86243|0.86243	TGC|TTG		0.582	SPNS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438793.1	NM_182538		C	4343008	G	C	4343008	3	2	806	1	0	0	0	0	1	0	0	0	15081	1310	46	4	261	4	SPNS3	17	4343008	Missense_Mutation	SNP	G	TCGA-UZ-A9PS-01A-11D-A42J-10		4343008	76852202	120	48236											
MED9	55090	hgsc.bcm.edu	37	17	17380470	17380470	+	Missense_Mutation	SNP	C	C	T			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr17:17380470C>T	ENST00000268711.3	+	1	171	c.115C>T	c.(115-117)Cct>Tct	p.P39S	MED9_ENST00000585041.1_3'UTR|MED9_ENST00000580462.1_Missense_Mutation_p.P39S	NM_018019.2	NP_060489.1	Q9NWA0	MED9_HUMAN	mediator complex subunit 9	39	Pro-rich.					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						gccgccggtccctgcgcctca	0.672																																																0													15	16	16					17																	17380470		2199	4293	6492	SO:0001583	missense	55090			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.115C>T	chr17.hg19:g.17380470C>T	ENSP00000268711:p.Pro39Ser			Missense_Mutation	SNP	ENST00000268711.3	hg19	CCDS11184.1	.	.	.	.	.	.	.	.	.	.	C	2.166	-0.390952	0.04932	.	.	ENSG00000141026	ENST00000268711	.	.	.	5.5	2.19	0.27852	.	0.724378	0.12016	N	0.507437	T	0.22282	0.0537	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17868	-1.0355	9	0.44086	T	0.13	-8.2254	8.2274	0.31577	0.0:0.3189:0.5081:0.1731	.	39	Q9NWA0	MED9_HUMAN	S	39	.	ENSP00000268711:P39S	P	+	1	0	MED9	17321195	0.067000	0.21026	0.021000	0.16686	0.292000	0.27327	1.046000	0.30354	0.668000	0.31126	-0.226000	0.12346	CCT		0.672	MED9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131669.2	NM_018019		T	17380470	C	T	17380470	3	4	806	1	0	0	0	0	1	0	0	0	9456	623	22	2	117	2	MED9	17	17380470	Missense_Mutation	SNP	C	TCGA-UZ-A9PS-01A-11D-A42J-10	13037462	17380470	63814740	121	48237											
MYO18A	399687	hgsc.bcm.edu	37	17	27447772	27447772	+	Silent	SNP	C	C	T			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr17:27447772C>T	ENST00000527372.1	-	7	1770	c.1590G>A	c.(1588-1590)gaG>gaA	p.E530E	MYO18A_ENST00000354329.4_Silent_p.E530E|MYO18A_ENST00000531253.1_Silent_p.E530E|MYO18A_ENST00000533112.1_Silent_p.E530E	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	530	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)			CCTGCCACTTCTCCACTGCAG	0.572																																					Esophageal Squamous(182;472 2015 7001 15270 22562)											0													57	65	62					17																	27447772		2043	4187	6230	SO:0001819	synonymous_variant	399687			D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"Myosins / Myosin superfamily : Class XVIII"	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.1590G>A	chr17.hg19:g.27447772C>T			Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Silent	SNP	ENST00000527372.1	hg19	CCDS45642.1																																																																																				0.572	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		T	27447772	C	T	27447772	2	4	806	1	0	0	0	0	0	0	0	1	10067	912	32	2		2	MYO18A	17	27447772	Silent	SNP	C	TCGA-UZ-A9PS-01A-11D-A42J-10	10067302	27447772	53747438	122	48238											
GPR179	440435	hgsc.bcm.edu	37	17	36482812	36482812	+	Missense_Mutation	SNP	T	T	A			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr17:36482812T>A	ENST00000342292.4	-	11	6660	c.6640A>T	c.(6640-6642)Atg>Ttg	p.M2214L	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	2214					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)				CTGCTTCCCATGCTGCCTGCT	0.567																																																0													96	95	95					17																	36482812		2057	4211	6268	SO:0001583	missense	440435				CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"GPCR / Class C : Orphans"	31371	protein-coding gene	gene with protein product		614515	"GPR158-like 1", "GPR179"	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.6640A>T	chr17.hg19:g.36482812T>A	ENSP00000345060:p.Met2214Leu			Missense_Mutation	SNP	ENST00000342292.4	hg19	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	T	12.05	1.822812	0.32237	.	.	ENSG00000188888	ENST00000342292	T	0.47869	0.83	4.85	-7.67	0.01272	.	2.213480	0.02200	N	0.062151	T	0.35278	0.0926	L	0.40543	1.245	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.12760	-1.0535	10	0.27082	T	0.32	2.8526	9.3478	0.38120	0.0:0.4802:0.2389:0.2809	.	2214	Q6PRD1	GP179_HUMAN	L	2214	ENSP00000345060:M2214L	ENSP00000345060:M2214L	M	-	1	0	GPR179	33736338	0.000000	0.05858	0.000000	0.03702	0.273000	0.26683	-2.919000	0.00694	-1.922000	0.01067	-0.621000	0.04028	ATG		0.567	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			A	36482812	T	A	36482812	3	1	806	1	0	0	0	0	1	0	0	0	6676	1464	51	5	467	5	GPR179	17	36482812	Missense_Mutation	SNP	T	TCGA-UZ-A9PS-01A-11D-A42J-10	9035040	36482812	44712398	123	48239											
MED13	9969	hgsc.bcm.edu	37	17	60033103	60033103	+	Frame_Shift_Del	DEL	G	G	-	rs74792573		TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr17:60033103delG	ENST00000397786.2	-	25	5796	c.5720delC	c.(5719-5721)cctfs	p.P1907fs		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1907					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						GAGAATGCTAGGGGAGTCTGC	0.418																																																0													96	97	97					17																	60033103		1894	4134	6028	SO:0001589	frameshift_variant	9969			AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"thyroid hormone receptor associated protein 1"	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.5720delC	chr17.hg19:g.60033103delG	ENSP00000380888:p.Pro1907fs		B2RU05|O60334	Frame_Shift_Del	DEL	ENST00000397786.2	hg19	CCDS42366.1																																																																																				0.418	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		-	60033103	G	-	60033103	7	5	806	1	0	1	0	1	0	0	0	0	9432	1000	35	0	828	0	MED13	17	60033103	Frame_Shift_Del	DEL	G	TCGA-UZ-A9PS-01A-11D-A42J-10	23550291	60033103	21162107	124	48240											
TEX2	55852	hgsc.bcm.edu	37	17	62271048	62271048	+	Silent	SNP	G	G	T			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr17:62271048G>T	ENST00000583097.1	-	4	2219	c.2047C>A	c.(2047-2049)Cga>Aga	p.R683R	TEX2_ENST00000584379.1_Silent_p.R683R|TEX2_ENST00000258991.3_Silent_p.R683R			Q8IWB9	TEX2_HUMAN	testis expressed 2	683					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)		ATCTGATCTCGCTGGCTAGAT	0.483																																																0													127	121	123					17																	62271048		2203	4300	6503	SO:0001819	synonymous_variant	55852			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.2047C>A	chr17.hg19:g.62271048G>T			Q6AHZ5|Q8N3L0|Q9C0C5	Silent	SNP	ENST00000583097.1	hg19																																																																																					0.483	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	NM_018469		T	62271048	G	T	62271048	2	4	806	1	0	0	0	0	0	0	0	1	15786	1095	38	4		4	TEX2	17	62271048	Silent	SNP	G	TCGA-UZ-A9PS-01A-11D-A42J-10	2237945	62271048	18924162	125	48241											
PRKCA	5578	hgsc.bcm.edu	37	17	64728827	64728827	+	Frame_Shift_Del	DEL	G	G	-			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr17:64728827delG	ENST00000413366.3	+	9	966	c.940delG	c.(940-942)ggcfs	p.G314fs		NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	314					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)	TGGCCCTGCTGGCAACAAAGT	0.458																																																0													189	194	192					17																	64728827		2203	4300	6503	SO:0001589	frameshift_variant	5578				CCDS11664.1	17q22-q24	2009-07-10				ENSG00000154229	2.7.11.1		9393	protein-coding gene	gene with protein product		176960		PKCA			Standard	NM_002737		Approved		uc002jfp.1	P17252		ENST00000413366.3:c.940delG	chr17.hg19:g.64728827delG	ENSP00000408695:p.Gly314fs		B5BU22|Q15137|Q32M72|Q96RE4	Frame_Shift_Del	DEL	ENST00000413366.3	hg19	CCDS11664.1																																																																																				0.458	PRKCA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446976.1			-	64728827	G	-	64728827	7	5	806	1	0	1	0	1	0	0	0	0	12512	1348	47	0	974	0	PRKCA	17	64728827	Frame_Shift_Del	DEL	G	TCGA-UZ-A9PS-01A-11D-A42J-10	2457779	64728827	16466383	126	48242											
ABCA8	10351	hgsc.bcm.edu	37	17	66918423	66918423	+	Missense_Mutation	SNP	T	T	G			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr17:66918423T>G	ENST00000269080.2	-	11	1598	c.1461A>C	c.(1459-1461)aaA>aaC	p.K487N	ABCA8_ENST00000430352.2_Missense_Mutation_p.K487N|ABCA8_ENST00000586539.1_Missense_Mutation_p.K487N	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	487	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)					CTTTATATTCTTTTGTAACAT	0.244																																																0													37	40	39					17																	66918423		2187	4289	6476	SO:0001583	missense	10351			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.1461A>C	chr17.hg19:g.66918423T>G	ENSP00000269080:p.Lys487Asn		A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	hg19	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	T	17.21	3.332251	0.60853	.	.	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225;ENST00000542396	T;T	0.46819	0.86;0.86	4.74	1.29	0.21616	ABC transporter-like (1);	0.000000	0.56097	D	0.000033	T	0.68705	0.3030	M	0.92219	3.285	0.51012	D	0.999901	D;D;D;D;D	0.89917	0.999;0.991;1.0;0.998;0.996	D;D;D;D;D	0.79784	0.984;0.938;0.993;0.984;0.963	T	0.67007	-0.5779	10	0.87932	D	0	.	5.0198	0.14356	0.1396:0.164:0.0:0.6964	.	426;487;487;487;487	F5H6Z4;A1L3U3;B4DJ11;C9JQE6;O94911	.;.;.;.;ABCA8_HUMAN	N	487;487;426;118	ENSP00000269080:K487N;ENSP00000402814:K487N	ENSP00000269080:K487N	K	-	3	2	ABCA8	64430018	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.679000	0.37597	0.382000	0.24878	0.477000	0.44152	AAA		0.244	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		G	66918423	T	G	66918423	3	3	806	1	0	0	0	0	1	0	0	0	38	1606	56	5	3396	5	ABCA8	17	66918423	Missense_Mutation	SNP	T	TCGA-UZ-A9PS-01A-11D-A42J-10	2189596	66918423	14276787	127	48243											
SMCHD1	23347	hgsc.bcm.edu	37	18	2728547	2728547	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr18:2728547G>A	ENST00000320876.6	+	23	3204	c.2866G>A	c.(2866-2868)Gaa>Aaa	p.E956K	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000609587.1_3'UTR|SMCHD1_ENST00000261598.8_Missense_Mutation_p.E956K	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	956					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						AGTTTTAGATGAATCAGACAA	0.363																																																0													106	100	101					18																	2728547		1849	4098	5947	SO:0001583	missense	23347			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.2866G>A	chr18.hg19:g.2728547G>A	ENSP00000326603:p.Glu956Lys		O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	hg19	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	G	15.65	2.895482	0.52121	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.23754	1.89;1.89	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.21103	0.0508	L	0.39633	1.23	0.38058	D	0.935997	B	0.28512	0.214	B	0.20767	0.031	T	0.06643	-1.0815	10	0.23891	T	0.37	-26.3497	14.3232	0.66502	0.0705:0.0:0.9295:0.0	.	956	A6NHR9	SMHD1_HUMAN	K	956	ENSP00000326603:E956K;ENSP00000261598:E956K	ENSP00000261598:E956K	E	+	1	0	SMCHD1	2718547	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.430000	0.66501	2.764000	0.94973	0.650000	0.86243	GAA		0.363	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2			A	2728547	G	A	2728547	3	1	806	1	0	0	0	0	1	0	0	0	14794	1291	45	2	2956	2	SMCHD1	18	2728547	Missense_Mutation	SNP	G	TCGA-UZ-A9PS-01A-11D-A42J-10		2728547	75348701	128	48244											
CABLES1	91768	hgsc.bcm.edu	37	18	20815956	20815956	+	Missense_Mutation	SNP	T	T	C			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr18:20815956T>C	ENST00000256925.7	+	6	1283	c.1283T>C	c.(1282-1284)cTg>cCg	p.L428P	CABLES1_ENST00000420687.2_Missense_Mutation_p.L163P|TMEM241_ENST00000450466.2_Intron|CABLES1_ENST00000400473.2_Missense_Mutation_p.L101P|CABLES1_ENST00000585061.1_Intron	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1	428	Interacts with CDK3. {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)					TTCCGTAACCTGAGCCACCGC	0.572																																																0													79	83	82					18																	20815956		1895	4107	6002	SO:0001583	missense	91768			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.1283T>C	chr18.hg19:g.20815956T>C	ENSP00000256925:p.Leu428Pro		B4DK60|Q8N3Y8|Q8NA22|Q9BTG1	Missense_Mutation	SNP	ENST00000256925.7	hg19	CCDS42417.1	.	.	.	.	.	.	.	.	.	.	T	15.05	2.717455	0.48622	.	.	ENSG00000134508	ENST00000400473;ENST00000256925;ENST00000420687	T;T;T	0.46063	0.93;0.88;0.89	5.47	4.34	0.51931	.	0.175925	0.48767	D	0.000177	T	0.18383	0.0441	N	0.14661	0.345	0.80722	D	1	B;P	0.46395	0.343;0.877	B;B	0.36030	0.134;0.216	T	0.02721	-1.1119	10	0.34782	T	0.22	-26.8928	3.1763	0.06570	0.0:0.357:0.0:0.643	.	163;428	Q8TDN4-2;Q8TDN4	.;CABL1_HUMAN	P	101;428;163	ENSP00000383321:L101P;ENSP00000256925:L428P;ENSP00000413851:L163P	ENSP00000256925:L428P	L	+	2	0	CABLES1	19069954	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	4.678000	0.61641	2.080000	0.62538	0.533000	0.62120	CTG		0.572	CABLES1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445198.2	NM_138375		C	20815956	T	C	20815956	3	2	806	1	0	0	0	0	1	0	0	0	2531	1580	55	3	1359	3	CABLES1	18	20815956	Missense_Mutation	SNP	T	TCGA-UZ-A9PS-01A-11D-A42J-10	18087409	20815956	57261292	129	48245											
TTR	7276	hgsc.bcm.edu	37	18	29178600	29178600	+	Missense_Mutation	SNP	T	T	G			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr18:29178600T>G	ENST00000237014.3	+	4	583	c.406T>G	c.(406-408)Tat>Gat	p.Y136D		NM_000371.3	NP_000362.1	P02766	TTHY_HUMAN	transthyretin	136	Thyroid hormone binding.		Y -> S (in AMYL-TTR; amyloid polyneuropathy). {ECO:0000269|PubMed:10627135}.|Y -> V (requires 2 nucleotide substitutions). {ECO:0000269|PubMed:3675594}.		extracellular matrix organization (GO:0030198)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	hormone binding (GO:0042562)|identical protein binding (GO:0042802)			cervix(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	13			OV - Ovarian serous cystadenocarcinoma(10;0.00523)		Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diflunisal(DB00861)|Dimethyl sulfoxide(DB01093)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	CCCCTACTCCTATTCCACCAC	0.547																																																0													80	67	71					18																	29178600		2203	4300	6503	SO:0001583	missense	7276			M10605	CCDS11899.1	18q12.1	2014-09-17	2008-07-31		ENSG00000118271	ENSG00000118271			12405	protein-coding gene	gene with protein product		176300	"prealbumin, amyloidosis type I", "carpal tunnel syndrome 1"	PALB, CTS1		8309582	Standard	NM_000371		Approved	HsT2651, CTS	uc002kwx.4	P02766	OTTHUMG00000131984	ENST00000237014.3:c.406T>G	chr18.hg19:g.29178600T>G	ENSP00000237014:p.Tyr136Asp		Q549C7|Q6IB96|Q9UBZ6|Q9UCM9	Missense_Mutation	SNP	ENST00000237014.3	hg19	CCDS11899.1	.	.	.	.	.	.	.	.	.	.	T	17.49	3.403205	0.62288	.	.	ENSG00000118271	ENST00000237014;ENST00000432547;ENST00000541025	D	0.98120	-4.73	6.08	6.08	0.98989	Transthyretin, conserved site (1);Transthyretin/hydroxyisourate hydrolase, superfamily (4);	0.246709	0.42294	D	0.000722	D	0.99064	0.9679	H	0.96301	3.8	0.53688	D	0.99997	D	0.89917	1.0	D	0.97110	1.0	D	0.99497	1.0952	10	0.87932	D	0	-18.6558	11.4063	0.49900	0.1349:0.0:0.0:0.8651	.	136	P02766	TTHY_HUMAN	D	136;173;128	ENSP00000237014:Y136D	ENSP00000237014:Y136D	Y	+	1	0	TTR	27432598	0.997000	0.39634	0.892000	0.35008	0.476000	0.33039	4.452000	0.60054	2.333000	0.79357	0.482000	0.46254	TAT		0.547	TTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254948.1	NM_000371		G	29178600	T	G	29178600	3	3	806	1	0	0	0	0	1	0	0	0	16743	1522	53	5	420	5	TTR	18	29178600	Missense_Mutation	SNP	T	TCGA-UZ-A9PS-01A-11D-A42J-10	8362644	29178600	48898648	130	48246											
WDR18	57418	hgsc.bcm.edu	37	19	984377	984377	+	Silent	SNP	C	C	T			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr19:984377C>T	ENST00000251289.5	+	1	47	c.24C>T	c.(22-24)gcC>gcT	p.A8A	WDR18_ENST00000591997.1_Intron|WDR18_ENST00000587001.2_Silent_p.A8A	NM_024100.3	NP_077005.2	Q9BV38	WDR18_HUMAN	WD repeat domain 18	8					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|lung(2)|skin(2)	7		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGAGGTGGCCGTGTGTACGG	0.716																																																0													20	22	21					19																	984377		2200	4296	6496	SO:0001819	synonymous_variant	57418				CCDS12051.1	19p13.3	2013-01-09				ENSG00000065268		"WD repeat domain containing"	17956	protein-coding gene	gene with protein product	"Involved in Processing ITS2 3 homolog (S. cerevisiae)"					22190735	Standard	NM_024100		Approved	Ipi3	uc002lqm.1	Q9BV38		ENST00000251289.5:c.24C>T	chr19.hg19:g.984377C>T			O60390|Q9BWR2	Silent	SNP	ENST00000251289.5	hg19	CCDS12051.1																																																																																				0.716	WDR18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458225.2			T	984377	C	T	984377	2	4	806	1	0	0	0	0	0	0	0	1	17283	639	23	1		1	WDR18	19	984377	Silent	SNP	C	TCGA-UZ-A9PS-01A-11D-A42J-10		984377	58144606	131	48247											
DOT1L	84444	hgsc.bcm.edu	37	19	2216297	2216297	+	Silent	SNP	A	A	T			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr19:2216297A>T	ENST00000398665.3	+	20	1977	c.1941A>T	c.(1939-1941)ctA>ctT	p.L647L	AC004490.1_ENST00000585593.1_RNA|DOT1L_ENST00000608122.1_3'UTR	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	647					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)		TTGTGGAGCTAGAGAAGAGCC	0.662																																																0													38	44	42					19																	2216297		2012	4155	6167	SO:0001819	synonymous_variant	84444			AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases"	24948	protein-coding gene	gene with protein product	"histone methyltransferase DOT1L"	607375	"DOT1-like, histone H3 methyltransferase (S. cerevisiae)"			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.1941A>T	chr19.hg19:g.2216297A>T			O60379|Q96JL1	Silent	SNP	ENST00000398665.3	hg19	CCDS42460.1	.	.	.	.	.	.	.	.	.	.	A	10.49	1.364766	0.24684	.	.	ENSG00000104885	ENST00000440640	.	.	.	5.13	-2.15	0.07102	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-18.8059	1.5698	0.02612	0.2261:0.288:0.3288:0.1572	.	.	.	.	L	434	.	.	X	+	2	0	DOT1L	2167297	0.994000	0.37717	0.998000	0.56505	0.938000	0.57974	0.207000	0.17395	-0.059000	0.13154	-0.132000	0.14878	TAG		0.662	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482		T	2216297	A	T	2216297	2	4	806	1	0	0	0	0	0	0	0	1	4711	407	15	5		5	DOT1L	19	2216297	Silent	SNP	A	TCGA-UZ-A9PS-01A-11D-A42J-10	1231920	2216297	56912686	132	48248											
RANBP3	8498	hgsc.bcm.edu	37	19	5921298	5921298	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr19:5921298G>A	ENST00000340578.6	-	14	1301	c.1244C>T	c.(1243-1245)tCa>tTa	p.S415L	RANBP3_ENST00000591092.1_Missense_Mutation_p.S342L|RANBP3_ENST00000034275.8_Missense_Mutation_p.S347L|RANBP3_ENST00000439268.2_Missense_Mutation_p.S410L|RANBP3_ENST00000541471.1_Missense_Mutation_p.S287L	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3	415	RanBD1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				intracellular transport (GO:0046907)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	R-SMAD binding (GO:0070412)|Ran GTPase binding (GO:0008536)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						CCAGGACTGTGAGGTCTTGTC	0.612																																																0													58	66	63					19																	5921298		2009	4184	6193	SO:0001583	missense	8498			Y08698	CCDS42477.1, CCDS42478.1, CCDS45935.1, CCDS74268.1	19p13.3	2008-02-05							9850	protein-coding gene	gene with protein product		603327				9637251	Standard	NM_007322		Approved		uc002mdw.3	Q9H6Z4		ENST00000340578.6:c.1244C>T	chr19.hg19:g.5921298G>A	ENSP00000341483:p.Ser415Leu		B2RAT8|O60405|O75759|O75760|Q9BT47|Q9UG74	Missense_Mutation	SNP	ENST00000340578.6	hg19	CCDS42478.1	.	.	.	.	.	.	.	.	.	.	G	34	5.360198	0.95877	.	.	ENSG00000031823	ENST00000340578;ENST00000439268;ENST00000034275;ENST00000324807;ENST00000541471	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.28	5.28	0.74379	Pleckstrin homology-type (1);Ran binding protein 1 (3);	0.191591	0.46442	D	0.000294	T	0.57460	0.2055	M	0.67569	2.06	0.58432	D	0.999995	P;D;D;D;D;D;D	0.59357	0.924;0.985;0.971;0.971;0.964;0.982;0.985	P;P;P;P;P;P;P	0.57548	0.505;0.823;0.714;0.714;0.591;0.729;0.823	T	0.54886	-0.8226	10	0.34782	T	0.22	-13.0523	16.4424	0.83906	0.0:0.0:1.0:0.0	.	287;410;287;342;347;410;415	F5H4C2;Q53GE1;B7Z5P4;B7Z7F3;Q9H6Z4-3;Q9H6Z4-2;Q9H6Z4	.;.;.;.;.;.;RANB3_HUMAN	L	415;410;347;346;287	ENSP00000341483:S415L;ENSP00000404837:S410L;ENSP00000034275:S347L;ENSP00000445071:S287L	ENSP00000034275:S347L	S	-	2	0	RANBP3	5872298	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	7.498000	0.81546	2.479000	0.83701	0.655000	0.94253	TCA		0.612	RANBP3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452304.1	NM_007322		A	5921298	G	A	5921298	3	1	806	1	0	0	0	0	1	0	0	0	13035	1294	45	2	475	2	RANBP3	19	5921298	Missense_Mutation	SNP	G	TCGA-UZ-A9PS-01A-11D-A42J-10	3705001	5921298	53207685	133	48249											
MUC16	94025	hgsc.bcm.edu	37	19	9049050	9049050	+	Missense_Mutation	SNP	A	A	C	rs554642180		TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr19:9049050A>C	ENST00000397910.4	-	5	32784	c.32581T>G	c.(32581-32583)Tcc>Gcc	p.S10861A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10863	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						GCTGAACTGGATTCTGCCCCA	0.483													A|||	1	0.000199681	0.0	0.0	5008	,	,		23708	0.001		0.0	False		,,,				2504	0.0															0													110	99	102					19																	9049050		1929	4137	6066	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.32581T>G	chr19.hg19:g.9049050A>C	ENSP00000381008:p.Ser10861Ala		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	hg19	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	a	3.311	-0.140758	0.06669	.	.	ENSG00000181143	ENST00000397910	T	0.02395	4.31	3.2	-6.4	0.01944	.	.	.	.	.	T	0.01320	0.0043	N	0.08118	0	.	.	.	B	0.02656	0.0	B	0.04013	0.001	T	0.48055	-0.9068	8	0.87932	D	0	.	0.8056	0.01083	0.3995:0.1925:0.1073:0.3007	.	10861	B5ME49	.	A	10861	ENSP00000381008:S10861A	ENSP00000381008:S10861A	S	-	1	0	MUC16	8910050	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.603000	0.00890	-2.560000	0.00474	-2.063000	0.00397	TCC		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		C	9049050	A	C	9049050	3	2	806	1	0	0	0	0	1	0	0	0	9975	333	12	5	11262	5	MUC16	19	9049050	Missense_Mutation	SNP	A	TCGA-UZ-A9PS-01A-11D-A42J-10	3127752	9049050	50079933	134	48250											
ZNF490	57474	hgsc.bcm.edu	37	19	12693704	12693704	+	Missense_Mutation	SNP	C	C	G			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr19:12693704C>G	ENST00000311437.6	-	4	432	c.310G>C	c.(310-312)Gat>Cat	p.D104H	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	104	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(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						TCTTCAATATCCTGGTCTTTC	0.313																																																0													119	124	122					19																	12693704		2203	4299	6502	SO:0001583	missense	57474			AB033024	CCDS12272.1	19p13.2	2013-01-08			ENSG00000188033	ENSG00000188033		"Zinc fingers, C2H2-type", "-"	23705	protein-coding gene	gene with protein product							Standard	NM_020714		Approved	KIAA1198	uc002mtz.2	Q9ULM2	OTTHUMG00000156398	ENST00000311437.6:c.310G>C	chr19.hg19:g.12693704C>G	ENSP00000311521:p.Asp104His			Missense_Mutation	SNP	ENST00000311437.6	hg19	CCDS12272.1	.	.	.	.	.	.	.	.	.	.	C	4.469	0.086965	0.08583	.	.	ENSG00000188033	ENST00000311437;ENST00000440366	T;T	0.00949	5.51;5.51	0.93	-0.166	0.13351	Krueppel-associated box (3);	.	.	.	.	T	0.00784	0.0026	N	0.26042	0.785	0.09310	N	1	B	0.10296	0.003	B	0.01281	0.0	T	0.46748	-0.9169	9	0.40728	T	0.16	.	3.172	0.06555	0.0:0.6767:0.0:0.3233	.	104	Q9ULM2	ZN490_HUMAN	H	104;51	ENSP00000311521:D104H;ENSP00000404112:D51H	ENSP00000311521:D104H	D	-	1	0	ZNF490	12554704	0.000000	0.05858	0.001000	0.08648	0.060000	0.15804	-1.188000	0.03064	-0.024000	0.13941	0.436000	0.28706	GAT		0.313	ZNF490-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344073.1	NM_020714		G	12693704	C	G	12693704	3	3	806	1	0	0	0	0	1	0	0	0	17946	855	30	4	1287	4	ZNF490	19	12693704	Missense_Mutation	SNP	C	TCGA-UZ-A9PS-01A-11D-A42J-10	3644654	12693704	46435279	135	48251											
UPF1	5976	hgsc.bcm.edu	37	19	18960968	18960968	+	Missense_Mutation	SNP	G	G	T			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr19:18960968G>T	ENST00000599848.1	+	4	755	c.546G>T	c.(544-546)gaG>gaT	p.E182D	UPF1_ENST00000600310.1_3'UTR|UPF1_ENST00000262803.5_Missense_Mutation_p.E182D			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	182	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						CAGTCCTGGAGTGCTACAACT	0.572																																																0													106	100	102					19																	18960968		2203	4300	6503	SO:0001583	missense	5976			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.546G>T	chr19.hg19:g.18960968G>T	ENSP00000470142:p.Glu182Asp		O00239|O43343|Q86Z25|Q92842	Missense_Mutation	SNP	ENST00000599848.1	hg19		.	.	.	.	.	.	.	.	.	.	G	21.7	4.189383	0.78789	.	.	ENSG00000005007	ENST00000262803	D	0.91843	-2.92	4.89	1.59	0.23543	RNA helicase UPF1, UPF2-interacting domain (1);	0.000000	0.85682	D	0.000000	D	0.96762	0.8943	H	0.97415	4	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.79108	0.992;0.987	D	0.95078	0.8210	10	0.87932	D	0	-47.5877	7.77	0.29001	0.4208:0.0:0.5792:0.0	.	182;182	Q92900;Q92900-2	RENT1_HUMAN;.	D	182	ENSP00000262803:E182D	ENSP00000262803:E182D	E	+	3	2	UPF1	18821968	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	2.236000	0.43052	0.472000	0.27344	0.467000	0.42956	GAG		0.572	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1	NM_002911		T	18960968	G	T	18960968	3	4	806	1	0	0	0	0	1	0	0	0	17008	1020	36	4	560	4	UPF1	19	18960968	Missense_Mutation	SNP	G	TCGA-UZ-A9PS-01A-11D-A42J-10	6267264	18960968	40168015	136	48252											
ZNF529	57711	hgsc.bcm.edu	37	19	37038652	37038652	+	Missense_Mutation	SNP	T	T	A			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr19:37038652T>A	ENST00000591340.1	-	5	966	c.808A>T	c.(808-810)Act>Tct	p.T270S	ZNF529_ENST00000334116.7_Missense_Mutation_p.T165S	NM_020951.4	NP_066002.3	Q6P280	ZN529_HUMAN	zinc finger protein 529	270					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)	1	Esophageal squamous(110;0.198)					TGAAGTGGAGTAACTTTTCCA	0.333																																																0													143	141	141					19																	37038652		1875	4122	5997	SO:0001583	missense	57711			AK025110	CCDS54256.1	19q13.13	2014-08-22			ENSG00000186020	ENSG00000186020		"Zinc fingers, C2H2-type", "-"	29328	protein-coding gene	gene with protein product						10997877	Standard	NM_020951		Approved	KIAA1615	uc002oeh.4	Q6P280	OTTHUMG00000180714	ENST00000591340.1:c.808A>T	chr19.hg19:g.37038652T>A	ENSP00000465578:p.Thr270Ser		K7EKE1|Q9H731|Q9HCF7	Missense_Mutation	SNP	ENST00000591340.1	hg19	CCDS54256.1	.	.	.	.	.	.	.	.	.	.	T	7.954	0.745517	0.15710	.	.	ENSG00000186020	ENST00000334116	.	.	.	3.68	2.66	0.31614	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.30070	0.0753	L	0.37800	1.135	0.09310	N	1	B;B	0.15719	0.014;0.008	B;B	0.15484	0.013;0.004	T	0.22034	-1.0228	8	0.42905	T	0.14	.	5.3337	0.15945	0.0:0.3507:0.0:0.6492	.	165;237	Q6P280-2;Q6P280	.;ZN529_HUMAN	S	270	.	ENSP00000334695:T270S	T	-	1	0	ZNF529	41730492	0.000000	0.05858	0.022000	0.16811	0.636000	0.38137	0.098000	0.15189	0.486000	0.27676	0.482000	0.46254	ACT		0.333	ZNF529-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452730.1	NM_020951		A	37038652	T	A	37038652	3	1	806	1	0	0	0	0	1	0	0	0	17975	1638	57	5	887	5	ZNF529	19	37038652	Missense_Mutation	SNP	T	TCGA-UZ-A9PS-01A-11D-A42J-10	18077684	37038652	22090331	137	48253											
ZNF585B	92285	hgsc.bcm.edu	37	19	37677880	37677880	+	Missense_Mutation	SNP	T	T	G			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr19:37677880T>G	ENST00000532828.2	-	5	810	c.559A>C	c.(559-561)Aag>Cag	p.K187Q	CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000527838.1_Intron|ZNF585B_ENST00000312908.5_Intron|ZNF585B_ENST00000531805.1_Missense_Mutation_p.K132Q	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	187					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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCATTGCACTTATAGGGCTTC	0.378																																					Melanoma(93;882 1454 18863 28917 48427)											0													131	132	132					19																	37677880		2203	4300	6503	SO:0001583	missense	92285			AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680		"Zinc fingers, C2H2-type", "-"	30948	protein-coding gene	gene with protein product						12477932	Standard	NM_152279		Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.559A>C	chr19.hg19:g.37677880T>G	ENSP00000433773:p.Lys187Gln		Q8IZD3|Q96JW6	Missense_Mutation	SNP	ENST00000532828.2	hg19	CCDS12500.1	.	.	.	.	.	.	.	.	.	.	T	6.257	0.415489	0.11870	.	.	ENSG00000245680	ENST00000531805;ENST00000532828	T;T	0.18810	2.19;2.19	2.41	0.0526	0.14303	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.398528	0.18240	N	0.147278	T	0.08891	0.0220	N	0.17838	0.53	0.22571	N	0.998976	P	0.42620	0.785	B	0.33521	0.165	T	0.22695	-1.0209	10	0.42905	T	0.14	.	4.7311	0.12964	0.0:0.1276:0.1936:0.6789	.	187	Q52M93	Z585B_HUMAN	Q	132;187	ENSP00000436774:K132Q;ENSP00000433773:K187Q	ENSP00000436774:K132Q	K	-	1	0	ZNF585B	42369720	0.000000	0.05858	0.916000	0.36221	0.699000	0.40488	-0.527000	0.06200	0.126000	0.18424	0.374000	0.22700	AAG		0.378	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388272.2	NM_152279		G	37677880	T	G	37677880	3	3	806	1	0	0	0	0	1	0	0	0	18023	1763	61	5	1754	5	ZNF585B	19	37677880	Missense_Mutation	SNP	T	TCGA-UZ-A9PS-01A-11D-A42J-10	639228	37677880	21451103	138	48254											
PLEKHA4	57664	hgsc.bcm.edu	37	19	49364695	49364695	+	Missense_Mutation	SNP	C	C	T	rs201822487		TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr19:49364695C>T	ENST00000263265.6	-	5	884	c.329G>A	c.(328-330)gGg>gAg	p.G110E	PLEKHA4_ENST00000355496.5_Missense_Mutation_p.G110E|PLEKHA4_ENST00000596713.1_5'Flank	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	110	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					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)		GGCTCCCGGCCCATCTGGTCT	0.612																																																0													47	61	56					19																	49364695		2203	4300	6503	SO:0001583	missense	57664			AY007233	CCDS12737.1, CCDS54291.1	19q13.33	2013-01-10	2002-01-14			ENSG00000105559		"Pleckstrin homology (PH) domain containing"	14339	protein-coding gene	gene with protein product		607769	"pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4"			11001876	Standard	NM_020904		Approved	PEPP1	uc002pkx.3	Q9H4M7		ENST00000263265.6:c.329G>A	chr19.hg19:g.49364695C>T	ENSP00000263265:p.Gly110Glu		Q8N4M8|Q8N658	Missense_Mutation	SNP	ENST00000263265.6	hg19	CCDS12737.1	.	.	.	.	.	.	.	.	.	.	c	19.98	3.926443	0.73327	.	.	ENSG00000105559	ENST00000263265;ENST00000355496	T;T	0.74209	-0.82;-0.82	4.56	4.56	0.56223	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.424077	0.22724	N	0.056413	T	0.76849	0.4045	N	0.20357	0.565	0.31463	N	0.669357	D;P	0.89917	1.0;0.685	D;P	0.75020	0.985;0.624	T	0.78802	-0.2061	10	0.66056	D	0.02	.	15.2385	0.73450	0.0:1.0:0.0:0.0	.	110;110	Q9H4M7-2;Q9H4M7	.;PKHA4_HUMAN	E	110	ENSP00000263265:G110E;ENSP00000347683:G110E	ENSP00000263265:G110E	G	-	2	0	PLEKHA4	54056507	0.877000	0.30153	1.000000	0.80357	0.992000	0.81027	2.412000	0.44609	2.548000	0.85928	0.457000	0.33378	GGG		0.612	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466216.1			T	49364695	C	T	49364695	3	4	806	1	0	0	0	0	1	0	0	0	12060	623	22	2	2074	2	PLEKHA4	19	49364695	Missense_Mutation	SNP	C	TCGA-UZ-A9PS-01A-11D-A42J-10	11686815	49364695	9764288	139	48255											
AP2A1	160	hgsc.bcm.edu	37	19	50304776	50304776	+	Silent	SNP	C	C	T			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr19:50304776C>T	ENST00000359032.5	+	13	1683	c.1683C>T	c.(1681-1683)ggC>ggT	p.G561G	AP2A1_ENST00000354293.5_Silent_p.G561G	NM_014203.2	NP_055018.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	561					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	AP-2 adaptor complex (GO:0030122)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		CCATCCAGGGCGTCCTGCGGG	0.652																																																0													50	53	52					19																	50304776		2111	4233	6344	SO:0001819	synonymous_variant	160			AA993745	CCDS46148.1, CCDS46149.1	19q13.3	2008-05-23				ENSG00000196961			561	protein-coding gene	gene with protein product		601026		CLAPA1, ADTAA		2564002	Standard	NM_014203		Approved		uc002ppn.3	O95782		ENST00000359032.5:c.1683C>T	chr19.hg19:g.50304776C>T			Q96CI7|Q96PP6|Q96PP7|Q9H070	Silent	SNP	ENST00000359032.5	hg19	CCDS46148.1																																																																																				0.652	AP2A1-008	NOVEL	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465809.1			T	50304776	C	T	50304776	2	4	806	1	0	0	0	0	0	0	0	1	739	755	27	1		1	AP2A1	19	50304776	Silent	SNP	C	TCGA-UZ-A9PS-01A-11D-A42J-10	940081	50304776	8824207	140	48256											
ZNF749	388567	hgsc.bcm.edu	37	19	57955392	57955392	+	Silent	SNP	C	C	T			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr19:57955392C>T	ENST00000334181.4	+	3	1126	c.876C>T	c.(874-876)ctC>ctT	p.L292L	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	292					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)		AGGAGATTCTCAGTAGACCAA	0.453																																																0													74	75	75					19																	57955392		2203	4300	6503	SO:0001819	synonymous_variant	388567			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.876C>T	chr19.hg19:g.57955392C>T				Silent	SNP	ENST00000334181.4	hg19	CCDS33132.2																																																																																				0.453	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	NM_001023561		T	57955392	C	T	57955392	2	4	806	1	0	0	0	0	0	0	0	1	18136	813	29	2		2	ZNF749	19	57955392	Silent	SNP	C	TCGA-UZ-A9PS-01A-11D-A42J-10	7650616	57955392	1173591	141	48257											
NINL	22981	hgsc.bcm.edu	37	20	25460838	25460838	+	Missense_Mutation	SNP	T	T	G			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr20:25460838T>G	ENST00000278886.6	-	15	1949	c.1876A>C	c.(1876-1878)Aag>Cag	p.K626Q	NINL_ENST00000422516.1_Missense_Mutation_p.K626Q	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	626					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						TAATGCTCCTTTACCTGCTCC	0.542																																																0													167	142	150					20																	25460838		2203	4300	6503	SO:0001583	missense	22981				CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"EF-hand domain containing"	29163	protein-coding gene	gene with protein product	"ninein-like protein"	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.1876A>C	chr20.hg19:g.25460838T>G	ENSP00000278886:p.Lys626Gln		A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	ENST00000278886.6	hg19	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	T	12.63	1.994822	0.35226	.	.	ENSG00000101004	ENST00000278886;ENST00000422516	T;T	0.41758	0.99;1.04	4.83	3.7	0.42460	.	0.285870	0.26460	N	0.024250	T	0.60971	0.2310	M	0.79258	2.445	0.25995	N	0.982195	D;D	0.76494	0.999;0.997	D;D	0.69479	0.964;0.953	T	0.54596	-0.8270	10	0.48119	T	0.1	-33.9293	10.6943	0.45890	0.0:0.0:0.1609:0.8391	.	626;626	Q9Y2I6-2;Q9Y2I6	.;NINL_HUMAN	Q	626	ENSP00000278886:K626Q;ENSP00000410431:K626Q	ENSP00000278886:K626Q	K	-	1	0	NINL	25408838	1.000000	0.71417	0.918000	0.36340	0.002000	0.02628	3.465000	0.53064	0.838000	0.34948	0.460000	0.39030	AAG		0.542	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		G	25460838	T	G	25460838	3	3	806	1	0	0	0	0	1	0	0	0	10422	1850	64	5	2312	5	NINL	20	25460838	Missense_Mutation	SNP	T	TCGA-UZ-A9PS-01A-11D-A42J-10		25460838	37564682	142	48258											
MAPRE1	22919	hgsc.bcm.edu	37	20	31413759	31413764	+	In_Frame_Del	DEL	CAGTGA	CAGTGA	-			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	CAGTGA	CAGTGA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr20:31413759_31413764delCAGTGA	ENST00000375571.5	+	2	165_170	c.26_31delCAGTGA	c.(25-33)tcagtgacc>tcc	p.VT10del		NM_012325.2	NP_036457.1	Q15691	MARE1_HUMAN	microtubule-associated protein, RP/EB family, member 1	10					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of microtubule plus-end binding (GO:1903033)|protein localization to microtubule (GO:0035372)	cell projection membrane (GO:0031253)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule plus-end (GO:0035371)	microtubule plus-end binding (GO:0051010)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						TACTCAACGTCAGTGACCAGTGATAA	0.442																																																0																																										SO:0001651	inframe_deletion	22919			U24166	CCDS13208.1	20q11.1-q11.3	2013-01-17			ENSG00000101367	ENSG00000101367			6890	protein-coding gene	gene with protein product	"adenomatous polyposis coli-binding protein EB1"	603108				7606712, 9724749, 11470413	Standard	NM_012325		Approved	EB1	uc002wyh.3	Q15691	OTTHUMG00000032228	ENST00000375571.5:c.26_31delCAGTGA	chr20.hg19:g.31413759_31413764delCAGTGA	ENSP00000364721:p.Val10_Thr11del		B2R6I7|E1P5M8|Q3KQS8	In_Frame_Del	DEL	ENST00000375571.5	hg19	CCDS13208.1																																																																																				0.442	MAPRE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078647.2	NM_012325		-	31413764	CAGTGA	-	31413759	7	5	806	1	0	1	0	1	0	0	0	0	9296	838	29	0	28	0	MAPRE1	20	31413759	In_Frame_Del	DEL	CAGTGA	TCGA-UZ-A9PS-01A-11D-A42J-10	5952921	31413759	31611761	143	48259											
EDEM2	55741	hgsc.bcm.edu	37	20	33730267	33730267	+	Silent	SNP	G	G	T	rs375028628		TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr20:33730267G>T	ENST00000374492.3	-	4	378	c.273C>A	c.(271-273)gtC>gtA	p.V91V	EDEM2_ENST00000374491.3_Silent_p.V54V|EDEM2_ENST00000540582.1_Silent_p.V50V|EDEM2_ENST00000541621.1_5'UTR|EDEM2_ENST00000542871.1_5'UTR	NM_018217.2	NP_060687.2	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	91					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			GGAATTCTGAGACATTCCCCA	0.453																																					Esophageal Squamous(51;906 1021 24535 36410 39145)											0													66	60	62					20																	33730267		2203	4300	6503	SO:0001819	synonymous_variant	55741			AK001645	CCDS13247.1, CCDS46592.1	20q11.22	2006-03-31	2006-03-31	2006-03-31	ENSG00000088298	ENSG00000088298			15877	protein-coding gene	gene with protein product		610302	"chromosome 20 open reading frame 31"	C20orf49, C20orf31		15537790, 15579471	Standard	NM_018217		Approved	FLJ10783, bA4204.1	uc002xbo.2	Q9BV94	OTTHUMG00000032322	ENST00000374492.3:c.273C>A	chr20.hg19:g.33730267G>T			B4DTG9|Q6GU33|Q6IA89|Q6UWZ4|Q9H4U0|Q9H886|Q9NTL9|Q9NVE6	Silent	SNP	ENST00000374492.3	hg19	CCDS13247.1																																																																																				0.453	EDEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078842.2	NM_018217		T	33730267	G	T	33730267	2	4	806	1	0	0	0	0	0	0	0	1	4914	929	33	4		4	EDEM2	20	33730267	Silent	SNP	G	TCGA-UZ-A9PS-01A-11D-A42J-10	2316508	33730267	29295253	144	48260											
SLC32A1	140679	hgsc.bcm.edu	37	20	37356467	37356468	+	Frame_Shift_Ins	INS	-	-	C			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr20:37356467_37356468insC	ENST00000217420.1	+	2	1026_1027	c.763_764insC	c.(763-765)gccfs	p.A255fs		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	255					aging (GO:0007568)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell tip (GO:0051286)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cone cell pedicle (GO:0044316)|dendrite (GO:0030425)|dendrite terminus (GO:0044292)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	gamma-aminobutyric acid:proton symporter activity (GO:0015495)|glycine transmembrane transporter activity (GO:0015187)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	GCTGCCTTGCGCCTTCCTTAAG	0.579																																																0																																										SO:0001589	frameshift_variant	140679			AL133519	CCDS13307.1	20q11	2013-05-22			ENSG00000101438	ENSG00000101438		"Solute carriers"	11018	protein-coding gene	gene with protein product			"vesicular inhibitory amino acid transporter"	VIAAT		19843525	Standard	NM_080552		Approved	VGAT, bA122O1.1	uc002xjc.3	Q9H598	OTTHUMG00000032457	ENST00000217420.1:c.765dupC	chr20.hg19:g.37356469_37356469dupC	ENSP00000217420:p.Ala255fs		Q8N489	Frame_Shift_Ins	INS	ENST00000217420.1	hg19	CCDS13307.1																																																																																				0.579	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079206.1	NM_080552		C	37356468	-	C	37356467	7	5	806	1	0	1	1	0	0	0	0	0	14571	1087	38	0	769	0	SLC32A1	20	37356467	Frame_Shift_Ins	INS	-	TCGA-UZ-A9PS-01A-11D-A42J-10	3626200	37356467	25669053	145	48261											
TOMM34	10953	hgsc.bcm.edu	37	20	43580553	43580553	+	Silent	SNP	C	C	T			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr20:43580553C>T	ENST00000372813.3	-	4	623	c.471G>A	c.(469-471)agG>agA	p.R157R	PABPC1L_ENST00000372819.1_Intron|PABPC1L_ENST00000490798.1_Intron	NM_006809.4	NP_006800.2	Q15785	TOM34_HUMAN	translocase of outer mitochondrial membrane 34	157					protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	heat shock protein binding (GO:0031072)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	11		Myeloproliferative disorder(115;0.0122)				AGGAATTCCACCTCTTCTGAG	0.522																																																0													157	125	135					20																	43580553		2203	4300	6503	SO:0001819	synonymous_variant	10953			U58970	CCDS13340.1	20q12-q13.1	2013-01-10			ENSG00000025772	ENSG00000025772		"Tetratricopeptide (TTC) repeat domain containing"	15746	protein-coding gene	gene with protein product	"outer mitochondrial membrane translocase (34kD)"					9324309	Standard	NM_006809		Approved	TOM34, HTOM34P	uc002xmy.3	Q15785	OTTHUMG00000032552	ENST00000372813.3:c.471G>A	chr20.hg19:g.43580553C>T			Q53GH9|Q6IBN7|Q9NTZ3	Silent	SNP	ENST00000372813.3	hg19	CCDS13340.1																																																																																				0.522	TOMM34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079390.3	NM_006809		T	43580553	C	T	43580553	2	4	806	1	0	0	0	0	0	0	0	1	16362	506	18	2		2	TOMM34	20	43580553	Silent	SNP	C	TCGA-UZ-A9PS-01A-11D-A42J-10	6224086	43580553	19444967	146	48262											
NRIP1	8204	hgsc.bcm.edu	37	21	16337481	16337482	+	Missense_Mutation	DNP	AC	AC	TA			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	A|C	A|C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr21:16337481_16337482AC>TA	ENST00000400202.1	-	3	3744_3745	c.3032_3033GT>TA	c.(3031-3033)aGT>aTA	p.S1011I	NRIP1_ENST00000400199.1_Missense_Mutation_p.S1011I|NRIP1_ENST00000318948.4_Missense_Mutation_p.S1011I|AF127577.10_ENST00000446301.1_RNA			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	1011	Interaction with ZNF366.				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)		GGAAAGTAGGACTCACAGGAGT	0.47																																																0																																										SO:0001583	missense	8204			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.3032_3033delinsTA	chr21.hg19:g.16337481_16337482delinsTA	ENSP00000383063:p.Ser1011Ile		Q8IWE8	Missense_Mutation	SNP	ENST00000400202.1	hg19	CCDS13568.1																																																																																				0.47	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1	NM_003489		TA	16337482	AC	TA	16337481	3	4	806	1	0	0	0	0	1	0	0	0	10654	272	10	5	447	5	NRIP1	21	16337481	Missense_Mutation	DNP	AC	TCGA-UZ-A9PS-01A-11D-A42J-10		16337481	31792414	147	48263											
MORC3	23515	hgsc.bcm.edu	37	21	37732306	37732306	+	Missense_Mutation	SNP	A	A	C			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr21:37732306A>C	ENST00000400485.1	+	11	1338	c.1262A>C	c.(1261-1263)aAa>aCa	p.K421T	AP000692.9_ENST00000397184.2_RNA|MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	421					cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)	PML body (GO:0016605)	zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						AAGTGGCGGAAATTACCTGAT	0.428																																																0													194	186	188					21																	37732306		2049	4224	6273	SO:0001583	missense	23515			AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256			23572	protein-coding gene	gene with protein product		610078	"zinc finger, CW-type with coiled-coil domain 3", "zinc finger, CW type with coiled-coil domain 3"	ZCWCC3		14607086	Standard	NM_015358		Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	ENST00000400485.1:c.1262A>C	chr21.hg19:g.37732306A>C	ENSP00000383333:p.Lys421Thr		A8KA92|Q9UEZ2	Missense_Mutation	SNP	ENST00000400485.1	hg19	CCDS42924.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.096626	0.76870	.	.	ENSG00000159256	ENST00000400485	T	0.15256	2.44	5.68	5.68	0.88126	Zinc finger, CW-type (2);	0.000000	0.85682	D	0.000000	T	0.31420	0.0796	L	0.57130	1.785	0.58432	D	0.999995	P	0.46020	0.871	P	0.52343	0.696	T	0.01093	-1.1454	10	0.45353	T	0.12	-32.2775	15.9418	0.79758	1.0:0.0:0.0:0.0	.	421	Q14149	MORC3_HUMAN	T	421	ENSP00000383333:K421T	ENSP00000383333:K421T	K	+	2	0	MORC3	36654176	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	6.056000	0.71111	2.158000	0.67659	0.455000	0.32223	AAA		0.428	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000194640.1	NM_015358		C	37732306	A	C	37732306	3	2	806	1	0	0	0	0	1	0	0	0	9705	14	1	5	1304	5	MORC3	21	37732306	Missense_Mutation	SNP	A	TCGA-UZ-A9PS-01A-11D-A42J-10	21394825	37732306	10397589	148	48264											
COL6A2	1292	hgsc.bcm.edu	37	21	47545867	47545867	+	Frame_Shift_Del	DEL	G	G	-			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr21:47545867delG	ENST00000300527.4	+	26	2242	c.2138delG	c.(2137-2139)cgcfs	p.R713fs	COL6A2_ENST00000357838.4_Frame_Shift_Del_p.R713fs|COL6A2_ENST00000397763.1_Frame_Shift_Del_p.R713fs|COL6A2_ENST00000310645.5_Frame_Shift_Del_p.R713fs|COL6A2_ENST00000409416.1_Frame_Shift_Del_p.R713fs	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	713	Nonhelical region.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|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)		GCCTACGACCGCCTCATCAAG	0.627																																																0													64	63	63					21																	47545867		2202	4300	6502	SO:0001589	frameshift_variant	1292			M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"Collagens"	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.2138delG	chr21.hg19:g.47545867delG	ENSP00000300527:p.Arg713fs		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Frame_Shift_Del	DEL	ENST00000300527.4	hg19	CCDS13728.1																																																																																				0.627	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			-	47545867	G	-	47545867	7	5	806	1	0	1	0	1	0	0	0	0	3702	1087	38	0	2236	0	COL6A2	21	47545867	Frame_Shift_Del	DEL	G	TCGA-UZ-A9PS-01A-11D-A42J-10	9813561	47545867	584028	149	48265	521	2									
COL6A2	1292	hgsc.bcm.edu	37	21	47545869	47545879	+	Frame_Shift_Del	DEL	CTCATCAAGGA	CTCATCAAGGA	-			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	CTCATCAAGGA	CTCATCAAGGA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr21:47545869_47545879delCTCATCAAGGA	ENST00000300527.4	+	26	2244_2254	c.2140_2150delCTCATCAAGGA	c.(2140-2151)ctcatcaaggagfs	p.LIKE714fs	COL6A2_ENST00000357838.4_Frame_Shift_Del_p.LIKE714fs|COL6A2_ENST00000397763.1_Frame_Shift_Del_p.LIKE714fs|COL6A2_ENST00000310645.5_Frame_Shift_Del_p.LIKE714fs|COL6A2_ENST00000409416.1_Frame_Shift_Del_p.LIKE714fs	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	714	Nonhelical region.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|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)		p.I715M(3)		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)		CTACGACCGCCTCATCAAGGAGAGCCGGCGC	0.63																																																3	Substitution - Missense(3)	lung(3)																																								SO:0001589	frameshift_variant	1292			M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"Collagens"	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.2140_2150delCTCATCAAGGA	chr21.hg19:g.47545869_47545879delCTCATCAAGGA	ENSP00000300527:p.Leu714fs		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Frame_Shift_Del	DEL	ENST00000300527.4	hg19	CCDS13728.1																																																																																				0.63	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			-	47545879	CTCATCAAGGA	-	47545869	7	5	806	1	0	1	0	1	0	0	0	0	3702	681	24	0	2238	0	COL6A2	21	47545869	Frame_Shift_Del	DEL	CTCATCAAGGA	TCGA-UZ-A9PS-01A-11D-A42J-10	2	47545869	584026	150	48266	521	2									
A4GALT	53947	hgsc.bcm.edu	37	22	43089135	43089143	+	In_Frame_Del	DEL	CGCGGCAGG	CGCGGCAGG	-	rs577646955|rs372559008		TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	CGCGGCAGG	CGCGGCAGG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr22:43089135_43089143delCGCGGCAGG	ENST00000401850.1	-	2	1304_1312	c.815_823delCCTGCCGCG	c.(814-825)gcctgccgcggc>ggc	p.ACR272del	A4GALT_ENST00000381278.3_In_Frame_Del_p.ACR272del|A4GALT_ENST00000465765.2_5'Flank|A4GALT_ENST00000249005.2_In_Frame_Del_p.ACR272del			Q9NPC4	A4GAT_HUMAN	alpha 1,4-galactosyltransferase	272					globoside biosynthetic process (GO:0001576)|glycosphingolipid biosynthetic process (GO:0006688)|plasma membrane organization (GO:0007009)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	galactosyltransferase activity (GO:0008378)|lactosylceramide 4-alpha-galactosyltransferase activity (GO:0050512)|toxic substance binding (GO:0015643)	p.R274R(1)		NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						GTGGTGACGCCGCGGCAGGCGCGGCTCTC	0.66																																																1	Substitution - coding silent(1)	large_intestine(1)																																								SO:0001651	inframe_deletion	53947				CCDS14041.1	22q13.2	2014-07-18	2008-07-31		ENSG00000128274	ENSG00000128274	2.4.1.228		18149	protein-coding gene	gene with protein product	"Gb3 synthase", "CD77 synthase", "globotriaosylceramide synthase", "lactosylceramide 4-alpha-galactosyltransferase"	607922	"alpha 1,4-galactosyltransferase (globotriaosylceramide synthase, P blood group)"			10854428	Standard	XM_005261643		Approved	A14GALT, Gb3S, P(k)	uc003bdb.3	Q9NPC4	OTTHUMG00000150744	ENST00000401850.1:c.815_823delCCTGCCGCG	chr22.hg19:g.43089135_43089143delCGCGGCAGG	ENSP00000384794:p.Ala272_Arg274del		B2R7C4|Q9P1X5	In_Frame_Del	DEL	ENST00000401850.1	hg19	CCDS14041.1																																																																																				0.66	A4GALT-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319917.1	NM_017436		-	43089143	CGCGGCAGG	-	43089135	7	5	806	1	0	1	0	1	0	0	0	0	6	652	23	0	242	0	A4GALT	22	43089135	In_Frame_Del	DEL	CGCGGCAGG	TCGA-UZ-A9PS-01A-11D-A42J-10		43089135	8215431	151	48267											
TBC1D22A	25771	hgsc.bcm.edu	37	22	47507468	47507468	+	Missense_Mutation	SNP	G	G	C			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr22:47507468G>C	ENST00000337137.4	+	12	1560	c.1394G>C	c.(1393-1395)aGg>aCg	p.R465T	TBC1D22A_ENST00000355704.3_Missense_Mutation_p.R387T|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.R406T|TBC1D22A_ENST00000406733.1_Missense_Mutation_p.R418T	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	465							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)		GTGAGATGGAGGAAGGAAATA	0.348																																																0													102	100	101					22																	47507468		2203	4300	6503	SO:0001583	missense	25771			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.1394G>C	chr22.hg19:g.47507468G>C	ENSP00000336724:p.Arg465Thr		B0QYI2|B0QYI3|B9A6M3|Q5TE47|Q6ZUH2|Q92680|Q9BVD6|Q9UGG0|Q9UGT2|Q9UGU6|Q9UH25|Q9Y4W5	Missense_Mutation	SNP	ENST00000337137.4	hg19	CCDS14078.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.775821	0.90195	.	.	ENSG00000054611	ENST00000337137;ENST00000407381;ENST00000355704;ENST00000406733	T;T;T;T	0.28069	1.63;1.63;1.63;1.63	5.3	5.3	0.74995	Rab-GAP/TBC domain (3);	0.000000	0.85682	D	0.000000	T	0.46014	0.1371	M	0.77406	2.37	0.80722	D	1	B;D;P;B	0.57257	0.14;0.979;0.953;0.14	B;P;P;B	0.50352	0.059;0.638;0.54;0.059	T	0.42949	-0.9421	10	0.32370	T	0.25	.	16.4417	0.83903	0.0:0.0:1.0:0.0	.	465;387;406;465	B9A6M3;Q8WUA7-2;B0QYI1;Q8WUA7	.;.;.;TB22A_HUMAN	T	465;406;387;418	ENSP00000336724:R465T;ENSP00000384036:R406T;ENSP00000347932:R387T;ENSP00000385634:R418T	ENSP00000336724:R465T	R	+	2	0	TBC1D22A	45886132	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.438000	0.66550	2.462000	0.83206	0.655000	0.94253	AGG		0.348	TBC1D22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317600.3	NM_014346		C	47507468	G	C	47507468	3	2	806	1	0	0	0	0	1	0	0	0	15616	1000	35	4	1440	4	TBC1D22A	22	47507468	Missense_Mutation	SNP	G	TCGA-UZ-A9PS-01A-11D-A42J-10	4418333	47507468	3797098	152	48268											
BRD1	23774	hgsc.bcm.edu	37	22	50187854	50187854	+	Missense_Mutation	SNP	G	G	C	rs369329207		TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chr22:50187854G>C	ENST00000216267.8	-	6	2673	c.2187C>G	c.(2185-2187)tgC>tgG	p.C729W	BRD1_ENST00000542442.1_Missense_Mutation_p.C417W|BRD1_ENST00000404760.1_Missense_Mutation_p.C729W|BRD1_ENST00000342989.5_Missense_Mutation_p.C324W|BRD1_ENST00000404034.1_Missense_Mutation_p.C729W|BRD1_ENST00000457780.2_Missense_Mutation_p.C729W	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	729					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)		ACTTCATAGCGCAGGTGAGGT	0.612																																																0													60	64	62					22																	50187854		2203	4300	6503	SO:0001583	missense	23774			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.2187C>G	chr22.hg19:g.50187854G>C	ENSP00000216267:p.Cys729Trp		A6ZJA4	Missense_Mutation	SNP	ENST00000216267.8	hg19	CCDS14080.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.723195	0.30503	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000457780;ENST00000542442;ENST00000342989;ENST00000419212	T;T;T;T;T;T	0.27256	2.61;2.61;2.58;2.43;1.68;2.02	5.4	-1.65	0.08291	.	0.088754	0.85682	D	0.000000	T	0.37073	0.0990	L	0.59436	1.845	0.49051	D	0.999745	D;D;D;D	0.76494	0.998;0.996;0.996;0.999	P;P;P;P	0.60415	0.752;0.817;0.752;0.874	T	0.13710	-1.0499	10	0.66056	D	0.02	.	11.3583	0.49627	0.6417:0.0:0.3583:0.0	.	729;324;729;729	Q86X06;B7Z926;O95696;O95696-2	.;.;BRD1_HUMAN;.	W	729;729;729;729;417;324;189	ENSP00000216267:C729W;ENSP00000384076:C729W;ENSP00000385858:C729W;ENSP00000410042:C729W;ENSP00000437514:C417W;ENSP00000345886:C324W	ENSP00000216267:C729W	C	-	3	2	BRD1	48573858	0.040000	0.19996	0.370000	0.25965	0.975000	0.68041	-0.140000	0.10342	-0.460000	0.07003	-1.202000	0.01658	TGC		0.612	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	NM_014577		C	50187854	G	C	50187854	3	2	806	1	0	0	0	0	1	0	0	0	1503	1079	38	4	1017	4	BRD1	22	50187854	Missense_Mutation	SNP	G	TCGA-UZ-A9PS-01A-11D-A42J-10	2680386	50187854	1116712	153	48269											
ZRSR2	8233	hgsc.bcm.edu	37	X	15841227	15841227	+	Silent	SNP	G	G	C			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chrX:15841227G>C	ENST00000307771.7	+	11	1335	c.1311G>C	c.(1309-1311)cgG>cgC	p.R437R		NM_005089.3	NP_005080.1	Q15696	U2AFM_HUMAN	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2	437	Arg/Ser-rich (RS domain).				mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	U12-type spliceosomal complex (GO:0005689)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|pre-mRNA 3'-splice site binding (GO:0030628)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2)	48	Hepatocellular(33;0.183)					GCCGGGGCCGGGGCagccgga	0.647			"F, S, Mis"		"MDS, CLL"																																NSCLC(197;1631 3042 5741 31152)		Rec	yes		X	Xp22.1	8233	"zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2"		L	0													9	10	10					X																	15841227		2136	4121	6257	SO:0001819	synonymous_variant	8233			BC050451	CCDS14172.1	Xp22.1	2014-09-17	2006-09-26	2006-09-26	ENSG00000169249	ENSG00000169249		"Zinc fingers, CCCH-type domain containing", "RNA binding motif (RRM) containing"	23019	protein-coding gene	gene with protein product		300028	"U2(RNU2) small nuclear RNA auxiliary factor 1-like 2", "U2 small nuclear RNA auxiliary factor 1-like 2"	U2AF1L2		8586425, 9237760, 15146077	Standard	NM_005089		Approved	U2AF1-RS2, URP	uc004cxg.4	Q15696	OTTHUMG00000021184	ENST00000307771.7:c.1311G>C	chrX.hg19:g.15841227G>C			Q14D69	Silent	SNP	ENST00000307771.7	hg19	CCDS14172.1																																																																																				0.647	ZRSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055889.1	NM_005089		C	15841227	G	C	15841227	2	2	806	1	0	0	0	0	0	0	0	1	18230	1219	43	4		4	ZRSR2	23	15841227	Silent	SNP	G	TCGA-UZ-A9PS-01A-11D-A42J-10		15841227	139429333	154	48270											
ZRSR2	8233	hgsc.bcm.edu	37	X	15841260	15841260	+	Silent	SNP	C	C	G			TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chrX:15841260C>G	ENST00000307771.7	+	11	1368	c.1344C>G	c.(1342-1344)cgC>cgG	p.R448R		NM_005089.3	NP_005080.1	Q15696	U2AFM_HUMAN	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2	448	Arg/Ser-rich (RS domain).				mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	U12-type spliceosomal complex (GO:0005689)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|pre-mRNA 3'-splice site binding (GO:0030628)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2)	48	Hepatocellular(33;0.183)					gccggagccgCAGGAGCCGCC	0.647			"F, S, Mis"		"MDS, CLL"																																NSCLC(197;1631 3042 5741 31152)		Rec	yes		X	Xp22.1	8233	"zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2"		L	0													7	9	9					X																	15841260		1924	3790	5714	SO:0001819	synonymous_variant	8233			BC050451	CCDS14172.1	Xp22.1	2014-09-17	2006-09-26	2006-09-26	ENSG00000169249	ENSG00000169249		"Zinc fingers, CCCH-type domain containing", "RNA binding motif (RRM) containing"	23019	protein-coding gene	gene with protein product		300028	"U2(RNU2) small nuclear RNA auxiliary factor 1-like 2", "U2 small nuclear RNA auxiliary factor 1-like 2"	U2AF1L2		8586425, 9237760, 15146077	Standard	NM_005089		Approved	U2AF1-RS2, URP	uc004cxg.4	Q15696	OTTHUMG00000021184	ENST00000307771.7:c.1344C>G	chrX.hg19:g.15841260C>G			Q14D69	Silent	SNP	ENST00000307771.7	hg19	CCDS14172.1																																																																																				0.647	ZRSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055889.1	NM_005089		G	15841260	C	G	15841260	2	3	806	1	0	0	0	0	0	0	0	1	18230	697	25	4		4	ZRSR2	23	15841260	Silent	SNP	C	TCGA-UZ-A9PS-01A-11D-A42J-10	33	15841260	139429300	155	48271											
F9	2158	hgsc.bcm.edu	37	X	138643733	138643760	+	Frame_Shift_Del	DEL	ATTCGAATTATTCCTCACCACAACTACA	ATTCGAATTATTCCTCACCACAACTACA	-	rs1801202|rs137852250|rs369841886	byFrequency	TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	ATTCGAATTATTCCTCACCACAACTACA	ATTCGAATTATTCCTCACCACAACTACA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chrX:138643733_138643760delATTCGAATTATTCCTCACCACAACTACA	ENST00000218099.2	+	8	896_923	c.889_916delATTCGAATTATTCCTCACCACAACTACA	c.(889-918)attcgaattattcctcaccacaactacaatfs	p.IRIIPHHNYN297fs	F9_ENST00000394090.2_Frame_Shift_Del_p.IRIIPHHNYN259fs	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	297	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)|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)	GCGAAATGTGATTCGAATTATTCCTCACCACAACTACAATGCAGCTAT	0.36																																																0			GRCh37	CD010615|CD920994|CD951701|CM001680|CM940594|CM940595|CM940596|CM940597|CM940598|CM960592	F9	D|M	rs137852250|rs1801202																																			SO:0001589	frameshift_variant	2158			M11309	CCDS14666.1	Xq26.3-q27.1	2014-09-17	2008-08-01		ENSG00000101981	ENSG00000101981	3.4.21.22		3551	protein-coding gene	gene with protein product	"Factor IX", "plasma thromboplastic component", "Christmas disease", "hemophilia B"	300746					Standard	NM_000133		Approved	FIX	uc004fas.1	P00740	OTTHUMG00000022536	ENST00000218099.2:c.889_916delATTCGAATTATTCCTCACCACAACTACA	chrX.hg19:g.138643733_138643760delATTCGAATTATTCCTCACCACAACTACA	ENSP00000218099:p.Ile297fs		A8K9N4|F2RM36|Q5FBE1|Q5JYJ8	Frame_Shift_Del	DEL	ENST00000218099.2	hg19	CCDS14666.1																																																																																				0.36	F9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058557.1			-	138643760	ATTCGAATTATTCCTCACCACAACTACA	-	138643733	7	5	806	1	0	1	0	1	0	0	0	0	5353	333	12	0	919	0	F9	23	138643733	Frame_Shift_Del	DEL	ATTCGAATTATTCCTCACCACAACTACA	TCGA-UZ-A9PS-01A-11D-A42J-10	122802473	138643733	16626827	156	48272											
MAGEC3	139081	hgsc.bcm.edu	37	X	140967157	140967157	+	Missense_Mutation	SNP	A	A	G	rs200403296|rs372869684		TCGA-UZ-A9PS-01A-11D-A42J-10	TCGA-UZ-A9PS-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	acba931b-e52d-4487-b13a-7d8c91981263	57691588-0681-41ba-b333-4d612c7f0542	g.chrX:140967157A>G	ENST00000298296.1	+	3	455	c.455A>G	c.(454-456)tAc>tGc	p.Y152C	MAGEC3_ENST00000443323.2_5'Flank|MAGEC3_ENST00000448920.1_5'Flank|MAGEC3_ENST00000536088.1_5'Flank	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	152										NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GGCACAGGCTACACCCTTTCC	0.567																																																0													40	35	37					X																	140967157		2130	4297	6427	SO:0001583	missense	139081			AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 2"	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.455A>G	chrX.hg19:g.140967157A>G	ENSP00000298296:p.Tyr152Cys		Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	ENST00000298296.1	hg19	CCDS14676.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.107554	0.00033	.	.	ENSG00000165509	ENST00000298296	T	0.06449	3.3	0.588	-0.678	0.11353	.	.	.	.	.	T	0.02571	0.0078	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45571	-0.9252	8	0.23891	T	0.37	.	.	.	.	.	152	Q8TD91	MAGC3_HUMAN	C	152	ENSP00000298296:Y152C	ENSP00000298296:Y152C	Y	+	2	0	MAGEC3	140794823	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.178000	0.03093	-1.244000	0.02516	-1.723000	0.00705	TAC		0.567	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	NM_138702		G	140967157	A	G	140967157	3	3	806	1	0	0	0	0	1	0	0	0	9184	391	14	3	465	3	MAGEC3	23	140967157	Missense_Mutation	SNP	A	TCGA-UZ-A9PS-01A-11D-A42J-10	2323424	140967157	14303403	157	48273											
KIAA2013	90231	hgsc.bcm.edu	37	1	11983151	11983151	+	Silent	SNP	G	G	A			TCGA-UZ-A9PU-01A-11D-A42J-10	TCGA-UZ-A9PU-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dc9ae4b-b140-4e01-9339-de952605d9eb	b843c2a5-db31-4152-b8d4-7ad08f849f7e	g.chr1:11983151G>A	ENST00000376572.3	-	2	1614	c.1429C>T	c.(1429-1431)Ctg>Ttg	p.L477L	KIAA2013_ENST00000376576.3_Silent_p.L477L	NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN	KIAA2013	477						integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		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)		CTGTTGTGCAGCACGTCGGGG	0.612																																																0													45	42	43					1																	11983151		2202	4299	6501	SO:0001819	synonymous_variant	90231			AB095933	CCDS141.1	1p36.22	2011-02-09			ENSG00000116685	ENSG00000116685			28513	protein-coding gene	gene with protein product						12477932	Standard	NM_138346		Approved	MGC33867, RP5-1077B9.1	uc001atk.3	Q8IYS2	OTTHUMG00000002391	ENST00000376572.3:c.1429C>T	chr1.hg19:g.11983151G>A			Q5JXC1|Q8IVF8|Q8NDI7|Q9BSY1	Silent	SNP	ENST00000376572.3	hg19	CCDS141.1																																																																																				0.612	KIAA2013-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006858.1	NM_138346		A	11983151	G	A	11983151	2	1	807	1	0	0	0	0	0	0	0	1	8269	962	34	2		2	KIAA2013	1	11983151	Silent	SNP	G	TCGA-UZ-A9PU-01A-11D-A42J-10		11983151	237267470	1	48274											
SPEN	23013	hgsc.bcm.edu	37	1	16257405	16257405	+	Missense_Mutation	SNP	C	C	T			TCGA-UZ-A9PU-01A-11D-A42J-10	TCGA-UZ-A9PU-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dc9ae4b-b140-4e01-9339-de952605d9eb	b843c2a5-db31-4152-b8d4-7ad08f849f7e	g.chr1:16257405C>T	ENST00000375759.3	+	11	4874	c.4670C>T	c.(4669-4671)tCt>tTt	p.S1557F		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1557					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)		GACTTCATTTCTGGTAGGATC	0.413																																																0													91	94	93					1																	16257405		2203	4300	6503	SO:0001583	missense	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.4670C>T	chr1.hg19:g.16257405C>T	ENSP00000364912:p.Ser1557Phe		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	hg19	CCDS164.1	.	.	.	.	.	.	.	.	.	.	C	11.26	1.586812	0.28268	.	.	ENSG00000065526	ENST00000375759	T	0.09163	3.01	5.03	4.1	0.47936	.	.	.	.	.	T	0.08088	0.0202	N	0.19112	0.55	0.09310	N	1	B	0.29716	0.255	B	0.30029	0.11	T	0.28299	-1.0048	9	0.59425	D	0.04	-0.2817	9.0566	0.36410	0.0:0.7735:0.1492:0.0774	.	1557	Q96T58	MINT_HUMAN	F	1557	ENSP00000364912:S1557F	ENSP00000364912:S1557F	S	+	2	0	SPEN	16129992	0.083000	0.21467	0.063000	0.19743	0.447000	0.32167	1.805000	0.38883	1.295000	0.44724	0.563000	0.77884	TCT		0.413	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		T	16257405	C	T	16257405	3	4	807	1	0	0	0	0	1	0	0	0	15043	913	32	2	4712	2	SPEN	1	16257405	Missense_Mutation	SNP	C	TCGA-UZ-A9PU-01A-11D-A42J-10	4274254	16257405	232993216	2	48275											
PADI1	29943	hgsc.bcm.edu	37	1	17555524	17555524	+	Missense_Mutation	SNP	C	C	G			TCGA-UZ-A9PU-01A-11D-A42J-10	TCGA-UZ-A9PU-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dc9ae4b-b140-4e01-9339-de952605d9eb	b843c2a5-db31-4152-b8d4-7ad08f849f7e	g.chr1:17555524C>G	ENST00000375471.4	+	8	999	c.907C>G	c.(907-909)Cct>Gct	p.P303A		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	303					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	CACTCAGCCTCCTGAGGAGCT	0.632																																					Esophageal Squamous(80;414 1257 4580 27746 50832)											0													38	29	32					1																	17555524		2202	4298	6500	SO:0001583	missense	29943			AB033768	CCDS178.1	1p36.13	2008-07-18			ENSG00000142623	ENSG00000142623	3.5.3.15	"Peptidyl arginine deiminases"	18367	protein-coding gene	gene with protein product	"peptidylarginine deiminase type I", "protein-arginine deiminase type-1", "hPAD-colony 10"	607934				12416996	Standard	NM_013358		Approved	HPAD10, PDI1, PDI, PAD1	uc001bah.1	Q9ULC6	OTTHUMG00000002294	ENST00000375471.4:c.907C>G	chr1.hg19:g.17555524C>G	ENSP00000364620:p.Pro303Ala		A1L4K6|Q70SX6	Missense_Mutation	SNP	ENST00000375471.4	hg19	CCDS178.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.990531	0.74589	.	.	ENSG00000142623	ENST00000375471	T	0.38560	1.13	4.93	4.93	0.64822	Protein-arginine deiminase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.62539	0.2436	M	0.67625	2.065	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.60885	-0.7174	10	0.34782	T	0.22	-26.2146	16.7057	0.85371	0.0:1.0:0.0:0.0	.	303	Q9ULC6	PADI1_HUMAN	A	303	ENSP00000364620:P303A	ENSP00000364620:P303A	P	+	1	0	PADI1	17428111	1.000000	0.71417	0.974000	0.42286	0.908000	0.53690	5.529000	0.67135	2.280000	0.76307	0.555000	0.69702	CCT		0.632	PADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006621.1	NM_013358		G	17555524	C	G	17555524	3	3	807	1	0	0	0	0	1	0	0	0	11379	855	30	4	937	4	PADI1	1	17555524	Missense_Mutation	SNP	C	TCGA-UZ-A9PU-01A-11D-A42J-10	1298119	17555524	231695097	3	48276											
LCE4A	199834	hgsc.bcm.edu	37	1	152681648	152681648	+	Frame_Shift_Del	DEL	T	T	-			TCGA-UZ-A9PU-01A-11D-A42J-10	TCGA-UZ-A9PU-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dc9ae4b-b140-4e01-9339-de952605d9eb	b843c2a5-db31-4152-b8d4-7ad08f849f7e	g.chr1:152681648delT	ENST00000368777.1	+	2	353	c.97delT	c.(97-99)tgcfs	p.C33fs	LCE4A_ENST00000335535.3_Frame_Shift_Del_p.C33fs			Q5TA78	LCE4A_HUMAN	late cornified envelope 4A	33	Cys-rich.				keratinization (GO:0031424)					endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.116)			TGCATCCTCATGCCCACCTCC	0.592																																																0													121	135	130					1																	152681648		2203	4300	6503	SO:0001589	frameshift_variant	199834			BI670517	CCDS1022.1	1q22	2008-02-05	2004-10-11	2004-10-15	ENSG00000187170	ENSG00000187170		"Late cornified envelopes"	16613	protein-coding gene	gene with protein product		612618	"small proline rich-like (epidermal differentiation complex) 4A"	SPRL4A		11698679	Standard	NM_178356		Approved	LEP8	uc001fak.2	Q5TA78	OTTHUMG00000014394	ENST00000368777.1:c.97delT	chr1.hg19:g.152681648delT	ENSP00000357766:p.Cys33fs		Q14D97	Frame_Shift_Del	DEL	ENST00000368777.1	hg19	CCDS1022.1																																																																																				0.592	LCE4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040048.1	NM_178356		-	152681648	T	-	152681648	7	5	807	1	0	1	0	1	0	0	0	0	8676	1464	51	0	99	0	LCE4A	1	152681648	Frame_Shift_Del	DEL	T	TCGA-UZ-A9PU-01A-11D-A42J-10	135126124	152681648	96568973	4	48277											
OR10K1	391109	hgsc.bcm.edu	37	1	158436100	158436100	+	Missense_Mutation	SNP	T	T	G	rs202043017		TCGA-UZ-A9PU-01A-11D-A42J-10	TCGA-UZ-A9PU-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dc9ae4b-b140-4e01-9339-de952605d9eb	b843c2a5-db31-4152-b8d4-7ad08f849f7e	g.chr1:158436100T>G	ENST00000289451.2	+	1	829	c.749T>G	c.(748-750)gTt>gGt	p.V250G		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	250						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)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					GTGGTAACTGTTCACTACAGT	0.453																																																0													172	148	156					1																	158436100		2203	4300	6503	SO:0001583	missense	391109			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.749T>G	chr1.hg19:g.158436100T>G	ENSP00000289451:p.Val250Gly		Q6IFS2	Missense_Mutation	SNP	ENST00000289451.2	hg19	CCDS30897.1	.	.	.	.	.	.	.	.	.	.	t	14.94	2.684253	0.47991	.	.	ENSG00000173285	ENST00000289451	T	0.00202	8.56	4.24	4.24	0.50183	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36740	N	0.002436	T	0.00241	0.0007	M	0.75150	2.29	0.42767	D	0.993828	D	0.63880	0.993	D	0.65140	0.932	T	0.73183	-0.4063	10	0.87932	D	0	.	7.3876	0.26891	0.0:0.1011:0.0:0.8989	.	250	Q8NGX5	O10K1_HUMAN	G	250	ENSP00000289451:V250G	ENSP00000289451:V250G	V	+	2	0	OR10K1	156702724	0.016000	0.18221	0.728000	0.30774	0.644000	0.38419	2.073000	0.41519	1.753000	0.51906	0.455000	0.32223	GTT		0.453	OR10K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046367.1			G	158436100	T	G	158436100	3	3	807	1	0	0	0	0	1	0	0	0	10915	1725	60	5	751	5	OR10K1	1	158436100	Missense_Mutation	SNP	T	TCGA-UZ-A9PU-01A-11D-A42J-10	5754452	158436100	90814521	5	48278											
C1orf49	84066	hgsc.bcm.edu	37	1	178483864	178483864	+	Missense_Mutation	SNP	A	A	C			TCGA-UZ-A9PU-01A-11D-A42J-10	TCGA-UZ-A9PU-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dc9ae4b-b140-4e01-9339-de952605d9eb	b843c2a5-db31-4152-b8d4-7ad08f849f7e	g.chr1:178483864A>C	ENST00000319416.2	+	3	232	c.120A>C	c.(118-120)gaA>gaC	p.E40D	TEX35_ENST00000367639.1_Missense_Mutation_p.E48D|TEX35_ENST00000258298.2_5'UTR|TEX35_ENST00000367643.3_Missense_Mutation_p.E40D|TEX35_ENST00000367642.3_Missense_Mutation_p.E76D|TEX35_ENST00000367641.3_Missense_Mutation_p.E40D	NM_032126.4	NP_115502.2			testis expressed 35																		TTAAACAAGAAGGGCGGTTTA	0.473																																																0													144	106	119					1																	178483864		2203	4300	6503	SO:0001583	missense	84066			AL136694	CCDS1323.1, CCDS53433.1, CCDS53434.1	1q25.2	2014-01-28	2012-06-29	2012-06-29	ENSG00000240021	ENSG00000240021			25366	protein-coding gene	gene with protein product	"Testis-Specific Conserved gene 24kDa"		"chromosome 1 open reading frame 49"	C1orf49		11230166, 17077512	Standard	NM_032126		Approved	DKFZP564J047, TSC24	uc001glt.2	Q5T0J7	OTTHUMG00000035023	ENST00000319416.2:c.120A>C	chr1.hg19:g.178483864A>C	ENSP00000323795:p.Glu40Asp			Missense_Mutation	SNP	ENST00000319416.2	hg19	CCDS1323.1	.	.	.	.	.	.	.	.	.	.	A	11.45	1.643611	0.29246	.	.	ENSG00000240021	ENST00000319416;ENST00000367643;ENST00000367642;ENST00000367641;ENST00000367639	T;T;T;T;T	0.51574	2.1;2.1;0.7;2.1;2.1	3.72	-1.68	0.08212	.	0.176851	0.27397	N	0.019551	T	0.28499	0.0705	L	0.40543	1.245	0.41184	D	0.986258	B;B;B	0.19073	0.033;0.033;0.033	B;B;B	0.19946	0.027;0.018;0.018	T	0.05920	-1.0856	10	0.45353	T	0.12	-12.1642	0.5174	0.00605	0.4397:0.1788:0.2082:0.1732	.	48;40;40	Q5T0J7-2;Q5T0J7-3;Q5T0J7	.;.;CA049_HUMAN	D	40;40;76;40;48	ENSP00000323795:E40D;ENSP00000356615:E40D;ENSP00000356614:E76D;ENSP00000356613:E40D;ENSP00000356611:E48D	ENSP00000323795:E40D	E	+	3	2	C1orf49	176750487	1.000000	0.71417	0.429000	0.26710	0.053000	0.15095	0.445000	0.21677	-0.316000	0.08690	0.459000	0.35465	GAA		0.473	TEX35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084917.1	NM_032126		C	178483864	A	C	178483864	3	2	807	1	0	0	0	0	1	0	0	0	2043	69	3	5	154	5	C1orf49	1	178483864	Missense_Mutation	SNP	A	TCGA-UZ-A9PU-01A-11D-A42J-10	20047764	178483864	70766757	6	48279											
HMCN1	83872	hgsc.bcm.edu	37	1	186099715	186099715	+	Silent	SNP	G	G	A			TCGA-UZ-A9PU-01A-11D-A42J-10	TCGA-UZ-A9PU-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dc9ae4b-b140-4e01-9339-de952605d9eb	b843c2a5-db31-4152-b8d4-7ad08f849f7e	g.chr1:186099715G>A	ENST00000271588.4	+	85	13345	c.13116G>A	c.(13114-13116)gaG>gaA	p.E4372E	HMCN1_ENST00000367492.2_Silent_p.E4372E	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4372	Ig-like C2-type 43.				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						TGAATTGTGAGGTGAAAGGAG	0.478																																																0													110	106	108					1																	186099715		2203	4300	6503	SO:0001819	synonymous_variant	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.13116G>A	chr1.hg19:g.186099715G>A			A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	hg19	CCDS30956.1																																																																																				0.478	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		A	186099715	G	A	186099715	2	1	807	1	0	0	0	0	0	0	0	1	7222	991	35	2		2	HMCN1	1	186099715	Silent	SNP	G	TCGA-UZ-A9PU-01A-11D-A42J-10	7615851	186099715	63150906	7	48280											
PLXNA2	5362	hgsc.bcm.edu	37	1	208215625	208215625	+	Missense_Mutation	SNP	G	G	C			TCGA-UZ-A9PU-01A-11D-A42J-10	TCGA-UZ-A9PU-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dc9ae4b-b140-4e01-9339-de952605d9eb	b843c2a5-db31-4152-b8d4-7ad08f849f7e	g.chr1:208215625G>C	ENST00000367033.3	-	22	4861	c.4104C>G	c.(4102-4104)ttC>ttG	p.F1368L		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1368					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)		GGGTGCGGATGAAGGTCAGCA	0.612																																																0													118	117	117					1																	208215625		2203	4300	6503	SO:0001583	missense	5362			X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"Plexins"	9100	protein-coding gene	gene with protein product	"plexin 2", "plexin-A2", "semaphorin receptor OCT", "transmembrane protein OCT"	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.4104C>G	chr1.hg19:g.208215625G>C	ENSP00000356000:p.Phe1368Leu		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	hg19	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.825465	0.90955	.	.	ENSG00000076356	ENST00000367033	T	0.11169	2.8	5.15	4.24	0.50183	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.27798	0.0684	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00849	-1.1541	10	0.54805	T	0.06	.	10.7984	0.46474	0.1524:0.0:0.8476:0.0	.	1368	O75051	PLXA2_HUMAN	L	1368	ENSP00000356000:F1368L	ENSP00000356000:F1368L	F	-	3	2	PLXNA2	206282248	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.436000	0.59948	1.169000	0.42739	0.455000	0.32223	TTC		0.612	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		C	208215625	G	C	208215625	3	2	807	1	0	0	0	0	1	0	0	0	12122	1281	45	4	1624	4	PLXNA2	1	208215625	Missense_Mutation	SNP	G	TCGA-UZ-A9PU-01A-11D-A42J-10	22115910	208215625	41034996	8	48281											
OBSCN	84033	hgsc.bcm.edu	37	1	228404296	228404297	+	Frame_Shift_Ins	INS	-	-	A	rs116554705	byFrequency	TCGA-UZ-A9PU-01A-11D-A42J-10	TCGA-UZ-A9PU-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dc9ae4b-b140-4e01-9339-de952605d9eb	b843c2a5-db31-4152-b8d4-7ad08f849f7e	g.chr1:228404296_228404297insA	ENST00000422127.1	+	7	2314_2315	c.2270_2271insA	c.(2269-2274)tcggccfs	p.A758fs	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Frame_Shift_Ins_p.A758fs|C1orf145_ENST00000295012.5_5'Flank|OBSCN_ENST00000570156.2_Frame_Shift_Ins_p.A758fs	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	758	Ig-like 7.				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)				GTGCAGGCATCGGCCGGGCGGC	0.683																																																0																																										SO:0001589	frameshift_variant	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	Exception_encountered	chr1.hg19:g.228404296_228404297insA	ENSP00000409493:p.Ala758fs		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Frame_Shift_Ins	INS	ENST00000422127.1	hg19	CCDS58065.1																																																																																				0.683	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		A	228404297	-	A	228404296	7	5	807	1	0	1	1	0	0	0	0	0	10814	893	31	0	2292	0	OBSCN	1	228404296	Frame_Shift_Ins	INS	-	TCGA-UZ-A9PU-01A-11D-A42J-10	20188671	228404296	20846325	9	48282											
FOSL2	2355	hgsc.bcm.edu	37	2	28634997	28634997	+	Silent	SNP	G	G	C			TCGA-UZ-A9PU-01A-11D-A42J-10	TCGA-UZ-A9PU-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dc9ae4b-b140-4e01-9339-de952605d9eb	b843c2a5-db31-4152-b8d4-7ad08f849f7e	g.chr2:28634997G>C	ENST00000264716.4	+	4	1526	c.663G>C	c.(661-663)gtG>gtC	p.V221V	FOSL2_ENST00000545753.1_Silent_p.V182V|FOSL2_ENST00000379619.1_Silent_p.V213V	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	221					cell death (GO:0008219)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to progesterone (GO:0032570)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					CTGTAGTGGTGAAACAGGAGC	0.682																																																0													33	37	36					2																	28634997		2203	4297	6500	SO:0001819	synonymous_variant	2355				CCDS1766.1	2p23.3	2013-01-10			ENSG00000075426	ENSG00000075426		"basic leucine zipper proteins"	3798	protein-coding gene	gene with protein product		601575					Standard	NM_005253		Approved	FRA2, FLJ23306	uc002rma.3	P15408	OTTHUMG00000097832	ENST00000264716.4:c.663G>C	chr2.hg19:g.28634997G>C			B2RD58|B3KP27|B4DYV4|Q6FG46	Silent	SNP	ENST00000264716.4	hg19	CCDS1766.1																																																																																				0.682	FOSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215116.2	NM_005253		C	28634997	G	C	28634997	2	2	807	1	0	0	0	0	0	0	0	1	5990	1277	45	4		4	FOSL2	2	28634997	Silent	SNP	G	TCGA-UZ-A9PU-01A-11D-A42J-10		28634997	214564376	10	48283											
BIRC6	57448	hgsc.bcm.edu	37	2	32824826	32824826	+	Silent	SNP	G	G	T	rs144649481		TCGA-UZ-A9PU-01A-11D-A42J-10	TCGA-UZ-A9PU-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dc9ae4b-b140-4e01-9339-de952605d9eb	b843c2a5-db31-4152-b8d4-7ad08f849f7e	g.chr2:32824826G>T	ENST00000421745.2	+	70	13985	c.13851G>T	c.(13849-13851)gcG>gcT	p.A4617A		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4617	Ubiquitin-conjugating.				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)					CTGGTCCAGCGGACACCCCTT	0.373																																					Pancreas(94;175 1509 16028 18060 45422)											0													117	113	114					2																	32824826		2203	4300	6503	SO:0001819	synonymous_variant	57448			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"Baculoviral IAP repeat containing", "Ubiquitin-conjugating enzymes E2"	13516	protein-coding gene	gene with protein product	"apollon"	605638	"baculoviral IAP repeat-containing 6"			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.13851G>T	chr2.hg19:g.32824826G>T			Q9ULD1	Silent	SNP	ENST00000421745.2	hg19	CCDS33175.2																																																																																				0.373	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		T	32824826	G	T	32824826	2	4	807	1	0	0	0	0	0	0	0	1	1438	1103	39	4		4	BIRC6	2	32824826	Silent	SNP	G	TCGA-UZ-A9PU-01A-11D-A42J-10	4189829	32824826	210374547	11	48284											
LHCGR	3973	hgsc.bcm.edu	37	2	48982764	48982764	+	Missense_Mutation	SNP	A	A	T	rs4539842		TCGA-UZ-A9PU-01A-11D-A42J-10	TCGA-UZ-A9PU-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dc9ae4b-b140-4e01-9339-de952605d9eb	b843c2a5-db31-4152-b8d4-7ad08f849f7e	g.chr2:48982764A>T	ENST00000294954.7	-	1	68	c.47T>A	c.(46-48)cTg>cAg	p.L16Q	LHCGR_ENST00000403273.1_Missense_Mutation_p.L16Q|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000405626.1_Missense_Mutation_p.L16Q|LHCGR_ENST00000344775.3_Missense_Mutation_p.L16Q|LHCGR_ENST00000401907.1_Missense_Mutation_p.L16Q	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	16					activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964)			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	cggctgcagcagcagcagcag	0.721																																																0													1	3	2					2																	48982764		911	1841	2752	SO:0001583	missense	3973				CCDS1842.1	2p21	2012-08-10			ENSG00000138039	ENSG00000138039		"GPCR / Class A : Gonadotropin and TSH receptors"	6585	protein-coding gene	gene with protein product		152790	"hypergonadotropic hypogonadism"	HHG			Standard	NM_000233		Approved	LHR, LCGR, LGR2, ULG5	uc002rwu.4	P22888	OTTHUMG00000129257	ENST00000294954.7:c.47T>A	chr2.hg19:g.48982764A>T	ENSP00000294954:p.Leu16Gln		Q14751|Q15996|Q9UEW9	Missense_Mutation	SNP	ENST00000294954.7	hg19	CCDS1842.1	.	.	.	.	.	.	.	.	.	.	A	16.68	3.191104	0.58017	.	.	ENSG00000138039	ENST00000344775;ENST00000294954;ENST00000405626;ENST00000403273;ENST00000401907	D;D;D;D;D	0.85702	-2.02;-2.02;-2.02;-2.02;-2.02	4.18	4.18	0.49190	.	1.158800	0.06471	N	0.731104	D	0.83594	0.5288	L	0.29908	0.895	0.28253	N	0.925194	D	0.55172	0.97	P	0.51453	0.67	T	0.72527	-0.4266	9	.	.	.	.	9.5009	0.39017	1.0:0.0:0.0:0.0	rs4539842	16	P22888	LSHR_HUMAN	Q	16	ENSP00000344301:L16Q;ENSP00000294954:L16Q;ENSP00000386033:L16Q;ENSP00000385847:L16Q;ENSP00000385406:L16Q	.	L	-	2	0	LHCGR	48836268	0.561000	0.26578	0.862000	0.33874	0.243000	0.25628	1.821000	0.39041	1.736000	0.51660	0.421000	0.28195	CTG		0.721	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251364.4	NM_000233.3		T	48982764	A	T	48982764	3	4	807	1	0	0	0	0	1	0	0	0	8764	188	7	5	2096	5	LHCGR	2	48982764	Missense_Mutation	SNP	A	TCGA-UZ-A9PU-01A-11D-A42J-10	16157938	48982764	194216609	12	48285											
NRXN1	9378	hgsc.bcm.edu	37	2	50850545	50850545	+	Silent	SNP	T	T	C			TCGA-UZ-A9PU-01A-11D-A42J-10	TCGA-UZ-A9PU-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dc9ae4b-b140-4e01-9339-de952605d9eb	b843c2a5-db31-4152-b8d4-7ad08f849f7e	g.chr2:50850545T>C	ENST00000406316.2	-	6	2517	c.1041A>G	c.(1039-1041)ggA>ggG	p.G347G	NRXN1_ENST00000402717.3_Silent_p.G347G|NRXN1_ENST00000404971.1_Silent_p.G380G|NRXN1_ENST00000406859.3_Silent_p.G347G|NRXN1_ENST00000401669.2_Silent_p.G347G|NRXN1_ENST00000405472.3_Silent_p.G347G|NRXN1_ENST00000331040.5_5'UTR	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	347	Laminin G-like 2. {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)			AGGCCCCTGATCCCAAATTAA	0.463																																																0													117	111	113					2																	50850545		1897	4128	6025	SO:0001819	synonymous_variant	9378			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.1041A>G	chr2.hg19:g.50850545T>C			A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	ENST00000406316.2	hg19	CCDS54360.1																																																																																				0.463	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			C	50850545	T	C	50850545	2	2	807	1	0	0	0	0	0	0	0	1	10667	1422	50	3		3	NRXN1	2	50850545	Silent	SNP	T	TCGA-UZ-A9PU-01A-11D-A42J-10	1867781	50850545	192348828	13	48286											
ALMS1	7840	hgsc.bcm.edu	37	2	73676852	73676852	+	Missense_Mutation	SNP	C	C	G			TCGA-UZ-A9PU-01A-11D-A42J-10	TCGA-UZ-A9PU-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dc9ae4b-b140-4e01-9339-de952605d9eb	b843c2a5-db31-4152-b8d4-7ad08f849f7e	g.chr2:73676852C>G	ENST00000264448.6	+	8	3306	c.3195C>G	c.(3193-3195)gaC>gaG	p.D1065E	ALMS1_ENST00000377715.1_Missense_Mutation_p.D1065E|ALMS1_ENST00000409009.1_Missense_Mutation_p.D1023E	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1065	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TGTTATCAGACAGTCATCTAC	0.488																																																0													122	124	123					2																	73676852		1911	4127	6038	SO:0001583	missense	7840			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.3195C>G	chr2.hg19:g.73676852C>G	ENSP00000264448:p.Asp1065Glu		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	hg19	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.393036	0.42410	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.20200	2.97;2.96;2.09	4.49	-6.07	0.02158	.	0.685138	0.13351	N	0.394421	T	0.31263	0.0791	L	0.52573	1.65	0.09310	N	1	D;P;D	0.76494	0.982;0.566;0.999	P;B;D	0.67548	0.802;0.138;0.952	T	0.10405	-1.0631	10	0.29301	T	0.29	.	13.7332	0.62802	0.0:0.1772:0.0:0.8228	.	1065;1023;1065	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	E	1023;1065;1065	ENSP00000386627:D1023E;ENSP00000264448:D1065E;ENSP00000366944:D1065E	ENSP00000264448:D1065E	D	+	3	2	ALMS1	73530360	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-3.161000	0.00577	-1.296000	0.02353	0.591000	0.81541	GAC		0.488	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		G	73676852	C	G	73676852	3	3	807	1	0	0	0	0	1	0	0	0	535	477	17	4	3225	4	ALMS1	2	73676852	Missense_Mutation	SNP	C	TCGA-UZ-A9PU-01A-11D-A42J-10	22826307	73676852	169522521	14	48287			1	134		3	3	4073	N	GG_C_AGTGATGCC	3.201149e-05
ALMS1	7840	hgsc.bcm.edu	37	2	73680903	73680911	+	In_Frame_Del	DEL	AGTGATGCC	AGTGATGCC	-			TCGA-UZ-A9PU-01A-11D-A42J-10	TCGA-UZ-A9PU-10A-01D-A42M-10	AGTGATGCC	AGTGATGCC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dc9ae4b-b140-4e01-9339-de952605d9eb	b843c2a5-db31-4152-b8d4-7ad08f849f7e	g.chr2:73680903_73680911delAGTGATGCC	ENST00000264448.6	+	8	7357_7365	c.7246_7254delAGTGATGCC	c.(7246-7254)agtgatgccdel	p.SDA2416del	ALMS1-IT1_ENST00000441587.2_RNA|ALMS1_ENST00000377715.1_In_Frame_Del_p.SDA2416del|ALMS1_ENST00000409009.1_In_Frame_Del_p.SDA2374del	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2416					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						TGATTCAAGTAGTGATGCCAGTGATGGAA	0.392																																																0																																										SO:0001651	inframe_deletion	7840			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.7246_7254delAGTGATGCC	chr2.hg19:g.73680903_73680911delAGTGATGCC	ENSP00000264448:p.Ser2416_Ala2418del		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	In_Frame_Del	DEL	ENST00000264448.6	hg19	CCDS42697.1																																																																																				0.392	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		-	73680911	AGTGATGCC	-	73680903	7	5	807	1	0	1	0	1	0	0	0	0	535	420	15	0	7276	0	ALMS1	2	73680903	In_Frame_Del	DEL	AGTGATGCC	TCGA-UZ-A9PU-01A-11D-A42J-10	4051	73680903	169518470	15	48288			1	134		3	3	4073	N	GG_C_AGTGATGCC	3.201149e-05
ALMS1	7840	hgsc.bcm.edu	37	2	73680924	73680925	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-UZ-A9PU-01A-11D-A42J-10	TCGA-UZ-A9PU-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dc9ae4b-b140-4e01-9339-de952605d9eb	b843c2a5-db31-4152-b8d4-7ad08f849f7e	g.chr2:73680924_73680925GG>TT	ENST00000264448.6	+	8	7378_7379	c.7267_7268GG>TT	c.(7267-7269)GGt>TTt	p.G2423F	ALMS1-IT1_ENST00000441587.2_RNA|ALMS1_ENST00000377715.1_Missense_Mutation_p.G2423F|ALMS1_ENST00000409009.1_Missense_Mutation_p.G2381F	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2423					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						TGATGGAAATGGTTCCTGCTCG	0.381																																																0																																										SO:0001583	missense	7840			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	Exception_encountered	chr2.hg19:g.73680924_73680925delinsTT	ENSP00000264448:p.Gly2423Phe		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	hg19	CCDS42697.1																																																																																				0.381	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		TT	73680925	GG	TT	73680924	3	4	807	1	0	0	0	0	1	0	0	0	535	1348	47	4	7297	4	ALMS1	2	73680924	Missense_Mutation	DNP	GG	TCGA-UZ-A9PU-01A-11D-A42J-10	21	73680924	169518449	16	48289			1	134		3	3	4073	N	GG_C_AGTGATGCC	3.201149e-05
POLR1A	25885	hgsc.bcm.edu	37	2	86302371	86302371	+	Missense_Mutation	SNP	T	T	G			TCGA-UZ-A9PU-01A-11D-A42J-10	TCGA-UZ-A9PU-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dc9ae4b-b140-4e01-9339-de952605d9eb	b843c2a5-db31-4152-b8d4-7ad08f849f7e	g.chr2:86302371T>G	ENST00000263857.6	-	12	1771	c.1393A>C	c.(1393-1395)Aaa>Caa	p.K465Q	POLR1A_ENST00000409681.1_Missense_Mutation_p.K465Q			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	465					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						TAGGTCAGTTTTGTGGCAAAC	0.493																																																0													22	22	22					2																	86302371		1939	4127	6066	SO:0001583	missense	25885			AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"RNA polymerase subunits"	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.1393A>C	chr2.hg19:g.86302371T>G	ENSP00000263857:p.Lys465Gln		B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	ENST00000263857.6	hg19	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	T	18.61	3.660500	0.67586	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	T;T	0.69306	-0.39;-0.39	5.01	5.01	0.66863	RNA polymerase, alpha subunit (1);RNA polymerase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.80308	0.4599	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.82717	-0.0319	10	0.72032	D	0.01	-24.511	14.5645	0.68165	0.0:0.0:0.0:1.0	.	465	O95602	RPA1_HUMAN	Q	465	ENSP00000263857:K465Q;ENSP00000386300:K465Q	ENSP00000263857:K465Q	K	-	1	0	POLR1A	86155882	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.448000	0.80631	2.107000	0.64212	0.533000	0.62120	AAA		0.493	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		G	86302371	T	G	86302371	3	3	807	1	0	0	0	0	1	0	0	0	12211	1850	64	5	3861	5	POLR1A	2	86302371	Missense_Mutation	SNP	T	TCGA-UZ-A9PU-01A-11D-A42J-10	12621447	86302371	156897002	17	48290											
XIRP2	129446	hgsc.bcm.edu	37	2	168106667	168106667	+	Missense_Mutation	SNP	A	A	G			TCGA-UZ-A9PU-01A-11D-A42J-10	TCGA-UZ-A9PU-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dc9ae4b-b140-4e01-9339-de952605d9eb	b843c2a5-db31-4152-b8d4-7ad08f849f7e	g.chr2:168106667A>G	ENST00000409195.1	+	9	8854	c.8765A>G	c.(8764-8766)cAg>cGg	p.Q2922R	XIRP2_ENST00000409273.1_Missense_Mutation_p.Q2700R|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.Q2922R|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2747					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GAGATTACACAGAACAAATCT	0.373																																																0													81	77	78					2																	168106667		1824	4081	5905	SO:0001583	missense	129446			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.8765A>G	chr2.hg19:g.168106667A>G	ENSP00000386840:p.Gln2922Arg		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	hg19	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	A	13.30	2.196928	0.38806	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02472	4.28;4.28;4.29	6.02	4.86	0.63082	.	0.687182	0.14362	N	0.324364	T	0.05960	0.0155	L	0.60455	1.87	0.32557	N	0.531638	P;P;P	0.46142	0.799;0.873;0.873	B;P;P	0.44990	0.276;0.466;0.466	T	0.19910	-1.0291	10	0.28530	T	0.3	-0.7943	12.6473	0.56742	0.8617:0.1383:0.0:0.0	.	2747;2747;2700	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	R	2922;2922;2700;336	ENSP00000386840:Q2922R;ENSP00000295237:Q2922R;ENSP00000387255:Q2700R	ENSP00000295237:Q2922R	Q	+	2	0	XIRP2	167814913	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.353000	0.59411	1.082000	0.41137	0.533000	0.62120	CAG		0.373	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		G	168106667	A	G	168106667	3	3	807	1	0	0	0	0	1	0	0	0	17435	188	7	3	8795	3	XIRP2	2	168106667	Missense_Mutation	SNP	A	TCGA-UZ-A9PU-01A-11D-A42J-10	81804296	168106667	75092706	18	48291											
SLC40A1	30061	hgsc.bcm.edu	37	2	190439896	190439896	+	Missense_Mutation	SNP	T	T	C	rs387907374		TCGA-UZ-A9PU-01A-11D-A42J-10	TCGA-UZ-A9PU-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dc9ae4b-b140-4e01-9339-de952605d9eb	b843c2a5-db31-4152-b8d4-7ad08f849f7e	g.chr2:190439896T>C	ENST00000261024.2	-	3	688	c.262A>G	c.(262-264)Aga>Gga	p.R88G	SLC40A1_ENST00000418714.1_5'UTR	NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	88					anatomical structure morphogenesis (GO:0009653)|cellular iron ion homeostasis (GO:0006879)|endothelium development (GO:0003158)|iron ion transmembrane transport (GO:0034755)|lymphocyte homeostasis (GO:0002260)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of apoptotic process (GO:0043066)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|spleen trabecula formation (GO:0060345)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	iron ion transmembrane transporter activity (GO:0005381)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			CCTTTAAGTCTAGCATTCTTG	0.478																																																0			GRCh37	CM076533	SLC40A1	M							258	271	267					2																	190439896		2203	4300	6503	SO:0001583	missense	30061			AF215636	CCDS2299.1	2q32	2014-09-17	2003-06-04	2003-06-05	ENSG00000138449	ENSG00000138449		"Solute carriers"	10909	protein-coding gene	gene with protein product	"ferroportin 1"	604653	"solute carrier family 11 (proton-coupled divalent metal ion transporters), member 3"	SLC11A3		10828623	Standard	NM_014585		Approved	MTP1, IREG1, FPN1, HFE4	uc002uqp.4	Q9NP59	OTTHUMG00000132662	ENST00000261024.2:c.262A>G	chr2.hg19:g.190439896T>C	ENSP00000261024:p.Arg88Gly		Q6FI62|Q7Z4F8|Q8IVB2|Q9NRL0	Missense_Mutation	SNP	ENST00000261024.2	hg19	CCDS2299.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.628792	0.87560	.	.	ENSG00000138449	ENST00000261024;ENST00000427241	D;D	0.96041	-3.89;-3.89	5.16	3.95	0.45737	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.97399	0.9149	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.97680	1.0172	10	0.87932	D	0	-28.426	12.2975	0.54857	0.0:0.0:0.141:0.859	.	88;88	A8K7Y1;Q9NP59	.;S40A1_HUMAN	G	88	ENSP00000261024:R88G;ENSP00000390005:R88G	ENSP00000261024:R88G	R	-	1	2	SLC40A1	190148141	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.987000	0.56944	2.177000	0.69029	0.533000	0.62120	AGA		0.478	SLC40A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255916.2			C	190439896	T	C	190439896	3	2	807	1	0	0	0	0	1	0	0	0	14634	1530	53	3	1477	3	SLC40A1	2	190439896	Missense_Mutation	SNP	T	TCGA-UZ-A9PU-01A-11D-A42J-10	22333229	190439896	52759477	19	48292											
BMPR2	659	hgsc.bcm.edu	37	2	203420241	203420241	+	Missense_Mutation	SNP	C	C	T			TCGA-UZ-A9PU-01A-11D-A42J-10	TCGA-UZ-A9PU-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dc9ae4b-b140-4e01-9339-de952605d9eb	b843c2a5-db31-4152-b8d4-7ad08f849f7e	g.chr2:203420241C>T	ENST00000374580.4	+	12	2392	c.1853C>T	c.(1852-1854)aCa>aTa	p.T618I	BMPR2_ENST00000374574.2_Intron	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	618	Poly-Thr.				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)|brain development (GO:0007420)|cellular response to starvation (GO:0009267)|chondrocyte development (GO:0002063)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm formation (GO:0001707)|negative regulation of cell growth (GO:0030308)|negative regulation of chondrocyte proliferation (GO:1902731)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of vasoconstriction (GO:0045906)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|regulation of cell proliferation (GO:0042127)|regulation of lung blood pressure (GO:0014916)|retina vasculature development in camera-type eye (GO:0061298)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|venous blood vessel development (GO:0060841)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|fully spanning plasma membrane (GO:0044214)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	activin receptor activity, type II (GO:0016362)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						ACAAACACCACAGGACTCACG	0.463																																																0													159	137	144					2																	203420241		2203	4300	6503	SO:0001583	missense	659			Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217			1078	protein-coding gene	gene with protein product		600799	"primary pulmonary hypertension 1"	PPH1		7791754	Standard	NM_001204		Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374580.4:c.1853C>T	chr2.hg19:g.203420241C>T	ENSP00000363708:p.Thr618Ile		Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Missense_Mutation	SNP	ENST00000374580.4	hg19	CCDS33361.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.545630	0.45280	.	.	ENSG00000204217	ENST00000374580	D	0.81908	-1.55	5.74	5.74	0.90152	.	0.070435	0.64402	D	0.000018	T	0.74711	0.3752	L	0.27053	0.805	0.80722	D	1	P	0.41313	0.745	B	0.34301	0.179	T	0.76195	-0.3048	10	0.44086	T	0.13	.	19.9329	0.97127	0.0:1.0:0.0:0.0	.	618	Q13873	BMPR2_HUMAN	I	618	ENSP00000363708:T618I	ENSP00000363708:T618I	T	+	2	0	BMPR2	203128486	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.062000	0.57492	2.714000	0.92807	0.650000	0.86243	ACA		0.463	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257743.1	NM_001204		T	203420241	C	T	203420241	3	4	807	1	0	0	0	0	1	0	0	0	1471	478	17	2	1899	2	BMPR2	2	203420241	Missense_Mutation	SNP	C	TCGA-UZ-A9PU-01A-11D-A42J-10	12980345	203420241	39779132	20	48293											
CPS1	1373	hgsc.bcm.edu	37	2	211523412	211523412	+	Splice_Site	SNP	G	G	C			TCGA-UZ-A9PU-01A-11D-A42J-10	TCGA-UZ-A9PU-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dc9ae4b-b140-4e01-9339-de952605d9eb	b843c2a5-db31-4152-b8d4-7ad08f849f7e	g.chr2:211523412G>C	ENST00000233072.5	+	31	3952	c.3756G>C	c.(3754-3756)ttG>ttC	p.L1252F	CPS1_ENST00000430249.2_Splice_Site_p.L1258F|CPS1_ENST00000451903.2_Splice_Site_p.L801F	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1252	ATP-grasp 2.				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)	ATGATGTCTTGGTAAGAAATG	0.443																																																0													93	85	88					2																	211523412		2203	4300	6503	SO:0001630	splice_region_variant	1373			AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"carbamoyl-phosphate synthetase 1, mitochondrial"				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.3756+1G>C	chr2.hg19:g.211523412G>C			B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	hg19	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.612712	0.87258	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.97256	-4.31;-4.31;-4.31	5.76	5.76	0.90799	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);	0.056700	0.64402	D	0.000001	D	0.94066	0.8098	N	0.04203	-0.255	0.80722	D	1	P;P	0.41080	0.737;0.737	P;P	0.46144	0.505;0.505	D	0.95123	0.8248	10	0.87932	D	0	-6.542	19.9595	0.97236	0.0:0.0:1.0:0.0	.	1262;1252	Q59HF8;P31327	.;CPSM_HUMAN	F	1258;1260;1252;801	ENSP00000402608:L1258F;ENSP00000233072:L1252F;ENSP00000406136:L801F	ENSP00000233072:L1252F	L	+	3	2	CPS1	211231657	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.118000	0.94355	2.706000	0.92434	0.563000	0.77884	TTG		0.443	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5		Missense_Mutation	C	211523412	G	C	211523412	5	2	807	1	0	0	0	0	0	0	1	0	3825	1362	47	4	3900	4	CPS1	2	211523412	Splice_Site	SNP	G	TCGA-UZ-A9PU-01A-11D-A42J-10	8103171	211523412	31675961	21	48294											
KIAA1486	57624	hgsc.bcm.edu	37	2	226491661	226491661	+	Missense_Mutation	SNP	C	C	A			TCGA-UZ-A9PU-01A-11D-A42J-10	TCGA-UZ-A9PU-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dc9ae4b-b140-4e01-9339-de952605d9eb	b843c2a5-db31-4152-b8d4-7ad08f849f7e	g.chr2:226491661C>A	ENST00000272907.6	+	5	2060	c.1647C>A	c.(1645-1647)agC>agA	p.S549R	NYAP2_ENST00000409269.2_Missense_Mutation_p.P84T	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	549					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												AAGTCCGAAGCCACAGCACGG	0.433																																																0													26	28	27					2																	226491661		1893	4105	5998	SO:0001583	missense	57624			AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"KIAA1486"	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.1647C>A	chr2.hg19:g.226491661C>A	ENSP00000272907:p.Ser549Arg		A2RRN4|Q96NL2	Missense_Mutation	SNP	ENST00000272907.6	hg19	CCDS46529.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.16|13.16	2.155070|2.155070	0.38021|0.38021	.|.	.|.	ENSG00000144460|ENSG00000144460	ENST00000409269|ENST00000272907	.|T	.|0.33438	.|1.41	5.78|5.78	2.04|2.04	0.26737|0.26737	.|.	.|0.224065	.|0.48286	.|D	.|0.000186	T|T	0.42040|0.42040	0.1185|0.1185	L|L	0.40543|0.40543	1.245|1.245	0.24652|0.24652	N|N	0.993512|0.993512	P|D;P	0.39326|0.71674	0.668|0.998;0.822	B|D;B	0.43867|0.76575	0.434|0.988;0.359	T|T	0.23013|0.23013	-1.0200|-1.0200	8|10	0.21014|0.66056	T|D	0.42|0.02	-24.7943|-24.7943	9.9677|9.9677	0.41734|0.41734	0.0:0.6438:0.0:0.3562|0.0:0.6438:0.0:0.3562	.|.	84|63;549	Q9P242-2|Q9P242-3;Q9P242	.|.;K1486_HUMAN	T|R	84|549	.|ENSP00000272907:S549R	ENSP00000386437:P84T|ENSP00000272907:S549R	P|S	+|+	1|3	0|2	KIAA1486|KIAA1486	226199905|226199905	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.995000|0.995000	0.86356|0.86356	0.765000|0.765000	0.26546|0.26546	0.095000|0.095000	0.17434|0.17434	-0.136000|-0.136000	0.14681|0.14681	CCA|AGC		0.433	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		A	226491661	C	A	226491661	3	1	807	1	0	0	0	0	1	0	0	0	8239	738	26	4	1661	4	KIAA1486	2	226491661	Missense_Mutation	SNP	C	TCGA-UZ-A9PU-01A-11D-A42J-10	14968249	226491661	16707712	22	48295											
PID1	55022	hgsc.bcm.edu	37	2	229890502	229890502	+	Missense_Mutation	SNP	A	A	T			TCGA-UZ-A9PU-01A-11D-A42J-10	TCGA-UZ-A9PU-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dc9ae4b-b140-4e01-9339-de952605d9eb	b843c2a5-db31-4152-b8d4-7ad08f849f7e	g.chr2:229890502A>T	ENST00000354069.6	-	3	629	c.599T>A	c.(598-600)gTg>gAg	p.V200E	PID1_ENST00000392054.3_Missense_Mutation_p.V198E|PID1_ENST00000392055.3_Missense_Mutation_p.V167E|PID1_ENST00000482518.2_Intron|PID1_ENST00000409462.1_Missense_Mutation_p.V118E			Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	200	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cellular response to cytokine stimulus (GO:0071345)|cellular response to fatty acid (GO:0071398)|cellular response to interleukin-6 (GO:0071354)|cellular response to leptin stimulus (GO:0044320)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|mitochondrion morphogenesis (GO:0070584)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of mitochondrial DNA replication (GO:0090298)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of fat cell proliferation (GO:0070346)|positive regulation of gene expression (GO:0010628)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of mitochondrial fusion (GO:0010635)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		CTCGCACTCCACGGCGTGGCA	0.592																																																0													132	115	121					2																	229890502		2203	4300	6503	SO:0001583	missense	55022			AK096636	CCDS2471.1, CCDS42830.1	2q36.3	2007-02-02			ENSG00000153823	ENSG00000153823			26084	protein-coding gene	gene with protein product		612930				17124247, 16815647, 15221005	Standard	NM_001100818		Approved	NYGGF4, FLJ20701	uc002vps.4	Q7Z2X4	OTTHUMG00000133191	ENST00000354069.6:c.599T>A	chr2.hg19:g.229890502A>T	ENSP00000283937:p.Val200Glu		B3KU82|Q68CJ2|Q6ZUS3|Q8IXL0|Q9NWP6	Missense_Mutation	SNP	ENST00000354069.6	hg19		.	.	.	.	.	.	.	.	.	.	A	25.7	4.667104	0.88251	.	.	ENSG00000153823	ENST00000392054;ENST00000409462;ENST00000392055;ENST00000542363;ENST00000354069	.	.	.	6.07	6.07	0.98685	Phosphotyrosine interaction domain (2);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.78266	0.4256	M	0.69823	2.125	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	D;D;D;D	0.87578	0.991;0.991;0.998;0.998	T	0.78183	-0.2303	8	.	.	.	-38.6448	15.8218	0.78654	1.0:0.0:0.0:0.0	.	118;167;198;200	Q7Z2X4-3;Q7Z2X4-4;Q7Z2X4-2;Q7Z2X4	.;.;.;PCLI1_HUMAN	E	198;118;167;200;200	.	.	V	-	2	0	PID1	229598746	1.000000	0.71417	0.906000	0.35671	0.997000	0.91878	8.854000	0.92228	2.326000	0.78906	0.533000	0.62120	GTG		0.592	PID1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000331810.2	NM_017933		T	229890502	A	T	229890502	3	4	807	1	0	0	0	0	1	0	0	0	11884	159	6	5	157	5	PID1	2	229890502	Missense_Mutation	SNP	A	TCGA-UZ-A9PU-01A-11D-A42J-10	3398841	229890502	13308871	23	48296											
DHX30	22907	hgsc.bcm.edu	37	3	47891247	47891253	+	Frame_Shift_Del	DEL	GTGCACA	GTGCACA	-			TCGA-UZ-A9PU-01A-11D-A42J-10	TCGA-UZ-A9PU-10A-01D-A42M-10	GTGCACA	GTGCACA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dc9ae4b-b140-4e01-9339-de952605d9eb	b843c2a5-db31-4152-b8d4-7ad08f849f7e	g.chr3:47891247_47891253delGTGCACA	ENST00000445061.1	+	21	3726_3732	c.3319_3325delGTGCACA	c.(3319-3327)gtgcacatcfs	p.VHI1107fs	MIR1226_ENST00000408658.1_RNA|DHX30_ENST00000348968.4_Frame_Shift_Del_p.VHI1079fs|DHX30_ENST00000457607.1_Frame_Shift_Del_p.VHI1135fs|DHX30_ENST00000446256.2_Frame_Shift_Del_p.VHI1068fs	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	1107						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)		CGACGGGGACGTGCACATCCGTGGTGG	0.643											OREG0015550	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0																																										SO:0001589	frameshift_variant	22907			AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"DEAH-boxes"	16716	protein-coding gene	gene with protein product			"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30", "DEAH (Asp-Glu-Ala-His) box polypeptide 30"	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.3319_3325delGTGCACA	chr3.hg19:g.47891247_47891253delGTGCACA	ENSP00000405620:p.Val1107fs	950	A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Frame_Shift_Del	DEL	ENST00000445061.1	hg19	CCDS2759.1																																																																																				0.643	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615		-	47891253	GTGCACA	-	47891247	7	5	807	1	0	1	0	1	0	0	0	0	4506	1145	40	0	3404	0	DHX30	3	47891247	Frame_Shift_Del	DEL	GTGCACA	TCGA-UZ-A9PU-01A-11D-A42J-10		47891247	150131183	24	48297											
FAM107A	11170	hgsc.bcm.edu	37	3	58555533	58555533	+	Missense_Mutation	SNP	G	G	C			TCGA-UZ-A9PU-01A-11D-A42J-10	TCGA-UZ-A9PU-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dc9ae4b-b140-4e01-9339-de952605d9eb	b843c2a5-db31-4152-b8d4-7ad08f849f7e	g.chr3:58555533G>C	ENST00000394481.1	-	3	613	c.55C>G	c.(55-57)Cca>Gca	p.P19A	FAM107A_ENST00000360997.2_Missense_Mutation_p.P19A|FAM107A_ENST00000464064.1_Missense_Mutation_p.P19A|RP11-475O23.2_ENST00000472513.1_RNA|FAM107A_ENST00000447756.2_Missense_Mutation_p.P47A|FAM107A_ENST00000474531.1_Missense_Mutation_p.P50A	NM_001282713.1|NM_007177.2	NP_001269642.1|NP_009108.1	O95990	F107A_HUMAN	family with sequence similarity 107, member A	19			P -> L (in renal cell carcinoma cell line). {ECO:0000269|PubMed:10564580}.		regulation of cell growth (GO:0001558)	neuron projection (GO:0043005)|nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(55;0.000189)|Kidney(10;0.000536)|KIRC - Kidney renal clear cell carcinoma(10;0.000716)|OV - Ovarian serous cystadenocarcinoma(275;0.154)		CTGTATTCTGGCCGGGCCATC	0.607																																																0													69	73	72					3																	58555533		2203	4300	6503	SO:0001583	missense	11170			AF089854	CCDS2892.1, CCDS63672.1, CCDS63673.1	3p14.2	2006-02-03			ENSG00000168309	ENSG00000168309			30827	protein-coding gene	gene with protein product		608295				10564580, 10702698	Standard	XM_005264835		Approved	DRR1, TU3A	uc003dkn.3	O95990	OTTHUMG00000159159	ENST00000394481.1:c.55C>G	chr3.hg19:g.58555533G>C	ENSP00000377991:p.Pro19Ala		B3KNQ4|B7ZAY5|J3KR61|Q96NH4	Missense_Mutation	SNP	ENST00000394481.1	hg19	CCDS2892.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.112146	0.77210	.	.	ENSG00000168309	ENST00000360997;ENST00000394481;ENST00000464064;ENST00000474531;ENST00000447756;ENST00000465970	T;T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83;0.83	4.68	2.87	0.33458	.	0.000000	0.85682	D	0.000000	T	0.67173	0.2865	M	0.80028	2.48	0.53688	D	0.999974	P;D;B;D	0.89917	0.477;1.0;0.262;0.999	B;D;B;D	0.87578	0.187;0.987;0.135;0.998	T	0.68891	-0.5289	10	0.72032	D	0.01	-5.4675	10.9672	0.47418	0.1515:0.0:0.8485:0.0	.	47;19;50;19	B7ZAY5;O95990-2;B3KNQ4;O95990	.;.;.;F107A_HUMAN	A	19;19;19;50;47;19	ENSP00000354270:P19A;ENSP00000377991:P19A;ENSP00000419529:P19A;ENSP00000419124:P50A;ENSP00000400858:P47A;ENSP00000418038:P19A	ENSP00000354270:P19A	P	-	1	0	FAM107A	58530573	1.000000	0.71417	0.989000	0.46669	0.992000	0.81027	7.884000	0.87274	0.517000	0.28361	0.655000	0.94253	CCA		0.607	FAM107A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353585.1	NM_007177		C	58555533	G	C	58555533	3	2	807	1	0	0	0	0	1	0	0	0	5391	1203	42	4	391	4	FAM107A	3	58555533	Missense_Mutation	SNP	G	TCGA-UZ-A9PU-01A-11D-A42J-10	10664286	58555533	139466897	25	48298											
NAA50	80218	hgsc.bcm.edu	37	3	113441795	113441795	+	Frame_Shift_Del	DEL	A	A	-			TCGA-UZ-A9PU-01A-11D-A42J-10	TCGA-UZ-A9PU-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dc9ae4b-b140-4e01-9339-de952605d9eb	b843c2a5-db31-4152-b8d4-7ad08f849f7e	g.chr3:113441795delA	ENST00000240922.3	-	4	614	c.290delT	c.(289-291)ttafs	p.L97fs	NAA50_ENST00000497525.1_Frame_Shift_Del_p.L23fs|NAA50_ENST00000497255.1_Intron|NAA50_ENST00000477813.1_Frame_Shift_Del_p.L57fs|NAA50_ENST00000467022.1_5'Flank|NAA50_ENST00000493454.1_Frame_Shift_Del_p.L23fs|NAA50_ENST00000493900.1_Frame_Shift_Del_p.L96fs	NM_025146.2	NP_079422.1	Q9GZZ1	NAA50_HUMAN	N(alpha)-acetyltransferase 50, NatE catalytic subunit	97	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				histone H4 acetylation (GO:0043967)|mitotic sister chromatid cohesion, centromeric (GO:0071962)|N-terminal protein amino acid acetylation (GO:0006474)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	H4 histone acetyltransferase activity (GO:0010485)|peptide alpha-N-acetyltransferase activity (GO:0004596)|peptidyl-lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0052858)			large_intestine(2)|lung(2)|skin(1)	5						ACAGATGTTTAAGACATGATT	0.274																																																0													21	20	20					3																	113441795		2154	4192	6346	SO:0001589	frameshift_variant	80218			AK023256	CCDS2975.1	3q13.31	2010-05-07	2010-01-14	2010-01-14	ENSG00000121579	ENSG00000121579	2.3.1.-	"N(alpha)-acetyltransferase subunits"	29533	protein-coding gene	gene with protein product		610834	"Mak3 homolog (S. cerevisiae)", "N-acetyltransferase 13", "N-acetyltransferase 13 (GCN5-related)"	MAK3, NAT13		16507339, 17502424, 19660095	Standard	NM_025146		Approved	FLJ13194, NAT5, San	uc003ean.2	Q9GZZ1	OTTHUMG00000159294	ENST00000240922.3:c.290delT	chr3.hg19:g.113441795delA	ENSP00000240922:p.Leu97fs		D3DN74|Q68DQ1	Frame_Shift_Del	DEL	ENST00000240922.3	hg19	CCDS2975.1																																																																																				0.274	NAA50-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354446.2	NM_025146		-	113441795	A	-	113441795	7	5	807	1	0	1	0	1	0	0	0	0	10128	372	13	0	227	0	NAA50	3	113441795	Frame_Shift_Del	DEL	A	TCGA-UZ-A9PU-01A-11D-A42J-10	54886262	113441795	84580635	26	48299											
MAGEF1	64110	hgsc.bcm.edu	37	3	184429221	184429221	+	Missense_Mutation	SNP	C	C	T			TCGA-UZ-A9PU-01A-11D-A42J-10	TCGA-UZ-A9PU-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dc9ae4b-b140-4e01-9339-de952605d9eb	b843c2a5-db31-4152-b8d4-7ad08f849f7e	g.chr3:184429221C>T	ENST00000317897.3	-	1	615	c.389G>A	c.(388-390)gGt>gAt	p.G130D		NM_022149.4	NP_071432.2	Q9HAY2	MAGF1_HUMAN	melanoma antigen family F, 1	130	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(143;4.61e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;5.64e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.56e-22)			CAGCTCAAAACCAAAGACATA	0.493																																																0													114	120	118					3																	184429221		2203	4300	6503	SO:0001583	missense	64110			AF295378	CCDS3269.1	3q13	2008-02-05			ENSG00000177383	ENSG00000177383			29639	protein-coding gene	gene with protein product		609267				11313144	Standard	NM_022149		Approved		uc003fpa.3	Q9HAY2	OTTHUMG00000156712	ENST00000317897.3:c.389G>A	chr3.hg19:g.184429221C>T	ENSP00000315064:p.Gly130Asp		Q9H215	Missense_Mutation	SNP	ENST00000317897.3	hg19	CCDS3269.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.411928	0.62511	.	.	ENSG00000177383	ENST00000317897	T	0.24151	1.87	4.62	1.74	0.24563	.	0.119020	0.56097	D	0.000024	T	0.53867	0.1823	H	0.94771	3.58	0.09310	N	0.999993	D	0.89917	1.0	D	0.80764	0.994	T	0.47509	-0.9112	10	0.87932	D	0	.	4.5619	0.12165	0.0:0.6151:0.1833:0.2016	.	130	Q9HAY2	MAGF1_HUMAN	D	130	ENSP00000315064:G130D	ENSP00000315064:G130D	G	-	2	0	MAGEF1	185911915	0.491000	0.26019	0.110000	0.21437	0.956000	0.61745	0.575000	0.23729	0.259000	0.21709	0.655000	0.94253	GGT		0.493	MAGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345417.1	NM_022149		T	184429221	C	T	184429221	3	4	807	1	0	0	0	0	1	0	0	0	9189	507	18	2	538	2	MAGEF1	3	184429221	Missense_Mutation	SNP	C	TCGA-UZ-A9PU-01A-11D-A42J-10	70987426	184429221	13593209	27	48300											
SLC2A9	56606	hgsc.bcm.edu	37	4	10020642	10020642	+	Missense_Mutation	SNP	A	A	G			TCGA-UZ-A9PU-01A-11D-A42J-10	TCGA-UZ-A9PU-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dc9ae4b-b140-4e01-9339-de952605d9eb	b843c2a5-db31-4152-b8d4-7ad08f849f7e	g.chr4:10020642A>G	ENST00000264784.3	-	2	259	c.206T>C	c.(205-207)tTc>tCc	p.F69S	SLC2A9_ENST00000506583.1_Missense_Mutation_p.F40S|SLC2A9_ENST00000309065.3_Missense_Mutation_p.F40S	NM_020041.2	NP_064425.2	Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	69					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)	GCCGTAGAGGAAGGAGGAGCC	0.706																																																0													16	17	17					4																	10020642		1947	3904	5851	SO:0001583	missense	56606			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.206T>C	chr4.hg19:g.10020642A>G	ENSP00000264784:p.Phe69Ser		Q0VGC4|Q4W5D1|Q8WV30|Q96P00	Missense_Mutation	SNP	ENST00000264784.3	hg19	CCDS3407.1	.	.	.	.	.	.	.	.	.	.	a	19.38	3.816535	0.70912	.	.	ENSG00000109667	ENST00000506583;ENST00000264784;ENST00000309065;ENST00000513129	T;T;T;D	0.83914	-0.01;-1.06;-0.01;-1.78	4.89	4.89	0.63831	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.91496	0.7315	M	0.89715	3.055	0.34693	D	0.725902	D;D	0.76494	0.996;0.999	D;D	0.74023	0.969;0.982	D	0.95063	0.8197	9	.	.	.	.	10.8133	0.46559	1.0:0.0:0.0:0.0	.	40;69	Q9NRM0-2;Q9NRM0	.;GTR9_HUMAN	S	40;69;40;40	ENSP00000422209:F40S;ENSP00000264784:F69S;ENSP00000311383:F40S;ENSP00000426800:F40S	.	F	-	2	0	SLC2A9	9629740	1.000000	0.71417	1.000000	0.80357	0.458000	0.32498	3.598000	0.54038	2.068000	0.61886	0.454000	0.30748	TTC		0.706	SLC2A9-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207055.1			G	10020642	A	G	10020642	3	3	807	1	0	0	0	0	1	0	0	0	14558	246	9	3	1460	3	SLC2A9	4	10020642	Missense_Mutation	SNP	A	TCGA-UZ-A9PU-01A-11D-A42J-10		10020642	181133634	28	48301											
SDAD1	55153	hgsc.bcm.edu	37	4	76896925	76896925	+	Missense_Mutation	SNP	T	T	G			TCGA-UZ-A9PU-01A-11D-A42J-10	TCGA-UZ-A9PU-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dc9ae4b-b140-4e01-9339-de952605d9eb	b843c2a5-db31-4152-b8d4-7ad08f849f7e	g.chr4:76896925T>G	ENST00000356260.5	-	6	668	c.550A>C	c.(550-552)Atg>Ctg	p.M184L	SDAD1_ENST00000513089.1_5'Flank|SDAD1_ENST00000395711.4_Missense_Mutation_p.M147L	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	184					actin cytoskeleton organization (GO:0030036)|protein transport (GO:0015031)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal large subunit export from nucleus (GO:0000055)	nucleolus (GO:0005730)				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AGTTCAATCATTACATCTAAA	0.348																																																0													123	118	120					4																	76896925		2203	4300	6503	SO:0001583	missense	55153			AF132198	CCDS3573.2, CCDS75147.1	4q21.21	2010-11-24			ENSG00000198301	ENSG00000198301			25537	protein-coding gene	gene with protein product						11483580	Standard	NM_001288984		Approved	FLJ10498	uc003hje.4	Q9NVU7	OTTHUMG00000130111	ENST00000356260.5:c.550A>C	chr4.hg19:g.76896925T>G	ENSP00000348596:p.Met184Leu		Q32Q11|Q68D52|Q7Z5U4|Q9H831|Q9H9P6	Missense_Mutation	SNP	ENST00000356260.5	hg19	CCDS3573.2	.	.	.	.	.	.	.	.	.	.	T	15.91	2.972226	0.53614	.	.	ENSG00000198301	ENST00000356260;ENST00000395711	T;T	0.04862	3.71;3.54	5.2	5.2	0.72013	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.08802	0.0218	L	0.51853	1.615	0.58432	D	0.999995	B;P	0.42337	0.075;0.776	B;P	0.44518	0.081;0.452	T	0.25984	-1.0116	10	0.09084	T	0.74	-17.1439	13.2882	0.60255	0.0:0.0:0.0:1.0	.	147;184	E7EW05;Q9NVU7	.;SDA1_HUMAN	L	184;147	ENSP00000348596:M184L;ENSP00000379061:M147L	ENSP00000348596:M184L	M	-	1	0	SDAD1	77115949	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.665000	0.83852	2.081000	0.62600	0.533000	0.62120	ATG		0.348	SDAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252418.3	NM_018115		G	76896925	T	G	76896925	3	3	807	1	0	0	0	0	1	0	0	0	13956	1493	52	5	1581	5	SDAD1	4	76896925	Missense_Mutation	SNP	T	TCGA-UZ-A9PU-01A-11D-A42J-10	66876283	76896925	114257351	29	48302											
IL2	3558	hgsc.bcm.edu	37	4	123377451	123377451	+	Missense_Mutation	SNP	T	T	A			TCGA-UZ-A9PU-01A-11D-A42J-10	TCGA-UZ-A9PU-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dc9ae4b-b140-4e01-9339-de952605d9eb	b843c2a5-db31-4152-b8d4-7ad08f849f7e	g.chr4:123377451T>A	ENST00000226730.4	-	1	429	c.145A>T	c.(145-147)Aat>Tat	p.N49Y		NM_000586.3	NP_000577.2	P60568	IL2_HUMAN	interleukin 2	49					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)	ATACTTACATTAATTCCATTC	0.299			T	TNFRSF17	intestinal T-cell lymphoma																																		Dom	yes		4	4q26-q27	3558	interleukin 2		L	0													86	83	84					4																	123377451		2203	4299	6502	SO:0001583	missense	3558			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.145A>T	chr4.hg19:g.123377451T>A	ENSP00000226730:p.Asn49Tyr		P01585	Missense_Mutation	SNP	ENST00000226730.4	hg19	CCDS3726.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.634791	0.87760	.	.	ENSG00000109471	ENST00000226730	.	.	.	6.17	2.06	0.26882	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.224380	0.05498	N	0.557971	T	0.56978	0.2022	M	0.71036	2.16	0.09310	N	1	D	0.65815	0.995	P	0.60012	0.867	T	0.28106	-1.0054	9	0.72032	D	0.01	0.0199	3.7496	0.08561	0.0:0.2335:0.1858:0.5806	.	49	P60568	IL2_HUMAN	Y	49	.	ENSP00000226730:N49Y	N	-	1	0	IL2	123596901	0.001000	0.12720	0.012000	0.15200	0.964000	0.63967	0.806000	0.27126	0.478000	0.27488	0.533000	0.62120	AAT		0.299	IL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256715.2			A	123377451	T	A	123377451	3	1	807	1	0	0	0	0	1	0	0	0	7668	1754	61	5	332	5	IL2	4	123377451	Missense_Mutation	SNP	T	TCGA-UZ-A9PU-01A-11D-A42J-10	46480526	123377451	67776825	30	48303											
ITPR3	3710	hgsc.bcm.edu	37	6	33632875	33632875	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9PU-01A-11D-A42J-10	TCGA-UZ-A9PU-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dc9ae4b-b140-4e01-9339-de952605d9eb	b843c2a5-db31-4152-b8d4-7ad08f849f7e	g.chr6:33632875G>A	ENST00000374316.5	+	14	2354	c.1294G>A	c.(1294-1296)Gtg>Atg	p.V432M	ITPR3_ENST00000605930.1_Missense_Mutation_p.V432M			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	432	MIR 5. {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)	CTTTGCCATCGTGTCAGTGCC	0.627																																																0													88	84	85					6																	33632875		2203	4300	6503	SO:0001583	missense	3710			D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"Ion channels / Inositol triphosphate receptors"	6182	protein-coding gene	gene with protein product		147267	"inositol 1,4,5-triphosphate receptor, type 3"			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.1294G>A	chr6.hg19:g.33632875G>A	ENSP00000363435:p.Val432Met		Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	hg19	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.305299	0.60305	.	.	ENSG00000096433	ENST00000374316	D	0.91894	-2.93	4.89	4.89	0.63831	MIR motif (1);MIR (1);	0.068603	0.64402	N	0.000018	D	0.96071	0.8720	M	0.84511	2.7	0.58432	D	0.999999	D	0.89917	1.0	D	0.78314	0.991	D	0.96757	0.9558	10	0.87932	D	0	-22.0431	18.0608	0.89377	0.0:0.0:1.0:0.0	.	432	Q14573	ITPR3_HUMAN	M	432	ENSP00000363435:V432M	ENSP00000363435:V432M	V	+	1	0	ITPR3	33740853	1.000000	0.71417	0.964000	0.40570	0.004000	0.04260	9.735000	0.98825	2.260000	0.74910	0.557000	0.71058	GTG		0.627	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		A	33632875	G	A	33632875	3	1	807	1	0	0	0	0	1	0	0	0	7924	1145	40	1	1344	1	ITPR3	6	33632875	Missense_Mutation	SNP	G	TCGA-UZ-A9PU-01A-11D-A42J-10		33632875	137482192	31	48304											
FOXP4	116113	hgsc.bcm.edu	37	6	41555205	41555205	+	Missense_Mutation	SNP	C	C	G			TCGA-UZ-A9PU-01A-11D-A42J-10	TCGA-UZ-A9PU-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dc9ae4b-b140-4e01-9339-de952605d9eb	b843c2a5-db31-4152-b8d4-7ad08f849f7e	g.chr6:41555205C>G	ENST00000307972.4	+	6	839	c.827C>G	c.(826-828)aCc>aGc	p.T276S	FOXP4_ENST00000409208.1_Missense_Mutation_p.T276S|FOXP4_ENST00000373063.3_Missense_Mutation_p.T275S|FOXP4_ENST00000373057.3_Missense_Mutation_p.T274S|FOXP4_ENST00000373060.1_Missense_Mutation_p.T276S			Q8IVH2	FOXP4_HUMAN	forkhead box P4	276					embryonic foregut morphogenesis (GO:0048617)|heart development (GO:0007507)|lung secretory cell differentiation (GO:0061140)|negative regulation of lung goblet cell differentiation (GO:1901250)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					TCCCACCATACCCTGCCCAAC	0.662											OREG0004065	type=REGULATORY REGION|Gene=FOXP4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																				0													68	73	71					6																	41555205		2203	4300	6503	SO:0001583	missense	116113			AB080747	CCDS4856.1, CCDS34447.1, CCDS34448.1	6p21.1	2008-02-05			ENSG00000137166	ENSG00000137166		"Forkhead boxes"	20842	protein-coding gene	gene with protein product		608924					Standard	XM_006714991		Approved	FLJ40908	uc003oql.3	Q8IVH2	OTTHUMG00000014679	ENST00000307972.4:c.827C>G	chr6.hg19:g.41555205C>G	ENSP00000309823:p.Thr276Ser	902	Q5W098|Q7Z7F8|Q8IW55|Q96E19	Missense_Mutation	SNP	ENST00000307972.4	hg19	CCDS34447.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.757679	0.00657	.	.	ENSG00000137166	ENST00000373060;ENST00000373063;ENST00000409208;ENST00000373057;ENST00000307972	T;D;T;T;T	0.88431	1.09;-2.38;1.39;1.09;1.09	4.83	3.96	0.45880	.	0.359243	0.29383	N	0.012302	T	0.43743	0.1261	N	0.00841	-1.15	0.22629	N	0.998918	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.43048	-0.9415	10	0.02654	T	1	.	12.8987	0.58113	0.0:0.9209:0.0:0.0791	.	275;274;276	Q8IW55;Q7Z7F8;Q8IVH2	.;.;FOXP4_HUMAN	S	276;275;276;274;276	ENSP00000362151:T276S;ENSP00000362154:T275S;ENSP00000386958:T276S;ENSP00000362148:T274S;ENSP00000309823:T276S	ENSP00000309823:T276S	T	+	2	0	FOXP4	41663183	1.000000	0.71417	1.000000	0.80357	0.034000	0.12701	3.485000	0.53208	1.241000	0.43820	0.591000	0.81541	ACC		0.662	FOXP4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000106767.1	NM_138457		G	41555205	C	G	41555205	3	3	807	1	0	0	0	0	1	0	0	0	6031	507	18	4	849	4	FOXP4	6	41555205	Missense_Mutation	SNP	C	TCGA-UZ-A9PU-01A-11D-A42J-10	7922330	41555205	129559862	32	48305											
PCLO	27445	hgsc.bcm.edu	37	7	82508768	82508768	+	Missense_Mutation	SNP	T	T	G			TCGA-UZ-A9PU-01A-11D-A42J-10	TCGA-UZ-A9PU-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dc9ae4b-b140-4e01-9339-de952605d9eb	b843c2a5-db31-4152-b8d4-7ad08f849f7e	g.chr7:82508768T>G	ENST00000333891.9	-	10	13876	c.13539A>C	c.(13537-13539)ttA>ttC	p.L4513F	PCLO_ENST00000423517.2_Missense_Mutation_p.L4513F|PCLO_ENST00000426442.2_5'UTR	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						TTCTAATTCCTAATCCATTAC	0.393																																																0													71	61	64					7																	82508768		1808	4075	5883	SO:0001583	missense	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.13539A>C	chr7.hg19:g.82508768T>G	ENSP00000334319:p.Leu4513Phe			Missense_Mutation	SNP	ENST00000333891.9	hg19	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	T	10.10	1.256665	0.22965	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000380195	T;T	0.35973	1.28;1.28	4.91	4.91	0.64330	.	.	.	.	.	T	0.34978	0.0916	L	0.48986	1.54	0.80722	D	1	B;B	0.32350	0.366;0.366	B;B	0.40329	0.191;0.326	T	0.39440	-0.9614	9	0.87932	D	0	.	4.3636	0.11213	0.2927:0.0856:0.0:0.6217	.	4513;4513	Q9Y6V0-5;Q9Y6V0-6	.;.	F	4513;4513;9	ENSP00000334319:L4513F;ENSP00000388393:L4513F	ENSP00000334319:L4513F	L	-	3	2	PCLO	82346704	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.672000	0.25187	1.961000	0.56991	0.482000	0.46254	TTA		0.393	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		G	82508768	T	G	82508768	3	3	807	1	0	0	0	0	1	0	0	0	11585	1519	53	5	1970	5	PCLO	7	82508768	Missense_Mutation	SNP	T	TCGA-UZ-A9PU-01A-11D-A42J-10		82508768	76629895	33	48306											
AP4M1	9179	hgsc.bcm.edu	37	7	99703890	99703890	+	Missense_Mutation	SNP	T	T	C			TCGA-UZ-A9PU-01A-11D-A42J-10	TCGA-UZ-A9PU-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dc9ae4b-b140-4e01-9339-de952605d9eb	b843c2a5-db31-4152-b8d4-7ad08f849f7e	g.chr7:99703890T>C	ENST00000359593.4	+	13	1159	c.1001T>C	c.(1000-1002)cTc>cCc	p.L334P	AP4M1_ENST00000429084.1_Missense_Mutation_p.L341P|AP4M1_ENST00000421755.1_Missense_Mutation_p.L334P|AP4M1_ENST00000422582.1_Missense_Mutation_p.L206P	NM_004722.3	NP_004713.2	O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	334	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|Golgi trans cisterna (GO:0000138)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGGCTGCACCTCCCCCTGCCT	0.587																																					Pancreas(174;1182 2812 29595 49511)											0													74	56	62					7																	99703890		2203	4300	6503	SO:0001583	missense	9179			Y08387	CCDS5685.1	7q22.1	2012-06-29			ENSG00000221838	ENSG00000221838			574	protein-coding gene	gene with protein product	"mu-adaptin-related protein-2", "mu subunit of AP-4", "AP-4 adapter complex mu subunit", "adaptor-related protein complex AP-4 mu4 subunit"	602296				9013859, 10066790, 21620353	Standard	NM_004722		Approved	MU-ARP2, MU-4, SPG50	uc003utb.4	O00189	OTTHUMG00000154722	ENST00000359593.4:c.1001T>C	chr7.hg19:g.99703890T>C	ENSP00000352603:p.Leu334Pro		D6W5U1|Q8WV65|Q9UHK9	Missense_Mutation	SNP	ENST00000359593.4	hg19	CCDS5685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.53|19.53	3.845106|3.845106	0.71603|0.71603	.|.	.|.	ENSG00000221838|ENSG00000221838	ENST00000438383;ENST00000429084;ENST00000359593;ENST00000421755;ENST00000422582;ENST00000450807|ENST00000445295	T;T;T;T;T;T|.	0.21543|.	2.0;2.0;2.0;2.0;2.0;2.0|.	4.96|4.96	4.96|4.96	0.65561|0.65561	Clathrin adaptor, mu subunit, C-terminal (3);|.	0.195814|.	0.43747|.	D|.	0.000522|.	T|T	0.60235|0.60235	0.2253|0.2253	L|L	0.48642|0.48642	1.525|1.525	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.87578|.	0.997;0.998;0.998|.	T|T	0.58160|0.58160	-0.7685|-0.7685	10|5	0.87932|.	D|.	0|.	-12.5702|-12.5702	12.6235|12.6235	0.56616|0.56616	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	286;341;334|.	B4DKN7;C9JC87;O00189|.	.;.;AP4M1_HUMAN|.	P|P	266;341;334;334;206;86|60	ENSP00000401613:L266P;ENSP00000403663:L341P;ENSP00000352603:L334P;ENSP00000412185:L334P;ENSP00000406676:L206P;ENSP00000391585:L86P|.	ENSP00000352603:L334P|.	L|S	+|+	2|1	0|0	AP4M1|AP4M1	99541826|99541826	0.998000|0.998000	0.40836|0.40836	0.995000|0.995000	0.50966|0.50966	0.650000|0.650000	0.38633|0.38633	3.616000|3.616000	0.54174|0.54174	2.079000|2.079000	0.62486|0.62486	0.459000|0.459000	0.35465|0.35465	CTC|TCC		0.587	AP4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336772.4	NM_004722		C	99703890	T	C	99703890	3	2	807	1	0	0	0	0	1	0	0	0	753	1551	54	3	1051	3	AP4M1	7	99703890	Missense_Mutation	SNP	T	TCGA-UZ-A9PU-01A-11D-A42J-10	17195122	99703890	59434773	34	48307											
POT1	25913	hgsc.bcm.edu	37	7	124493170	124493170	+	Missense_Mutation	SNP	T	T	C			TCGA-UZ-A9PU-01A-11D-A42J-10	TCGA-UZ-A9PU-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dc9ae4b-b140-4e01-9339-de952605d9eb	b843c2a5-db31-4152-b8d4-7ad08f849f7e	g.chr7:124493170T>C	ENST00000357628.3	-	10	1323	c.725A>G	c.(724-726)tAt>tGt	p.Y242C	POT1_ENST00000393329.1_Missense_Mutation_p.Y111C	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	242					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)			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						ATGAAGGCTATAGATTCTAAG	0.313																																					Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)											0													63	60	61					7																	124493170		2203	4300	6503	SO:0001583	missense	25913			AK022580	CCDS5793.1	7q31.33	2013-01-21	2013-01-21		ENSG00000128513	ENSG00000128513			17284	protein-coding gene	gene with protein product		606478	"protection of telomeres 1 homolog (S. pombe)"			11349150, 12391173	Standard	NR_003102		Approved	hPot1, DKFZp586D211	uc003vlm.3	Q9NUX5	OTTHUMG00000157194	ENST00000357628.3:c.725A>G	chr7.hg19:g.124493170T>C	ENSP00000350249:p.Tyr242Cys		O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95	Missense_Mutation	SNP	ENST00000357628.3	hg19	CCDS5793.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.073572	0.76415	.	.	ENSG00000128513	ENST00000357628;ENST00000393329;ENST00000451720;ENST00000440969;ENST00000393326;ENST00000265391	T;T	0.49720	0.78;0.77	6.07	6.07	0.98685	Nucleic acid-binding, OB-fold-like (1);	0.178639	0.50627	D	0.000103	T	0.68384	0.2995	M	0.76002	2.32	0.48696	D	0.999696	D	0.89917	1.0	D	0.87578	0.998	T	0.69537	-0.5119	10	0.48119	T	0.1	-0.6297	14.5927	0.68378	0.0:0.0:0.0:1.0	.	242	Q9NUX5	POTE1_HUMAN	C	242;111;242;242;242;241	ENSP00000350249:Y242C;ENSP00000377002:Y111C	ENSP00000265391:Y241C	Y	-	2	0	POT1	124280406	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.512000	0.53407	2.326000	0.78906	0.533000	0.62120	TAT		0.313	POT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347861.1			C	124493170	T	C	124493170	3	2	807	1	0	0	0	0	1	0	0	0	12262	1406	49	3	1219	3	POT1	7	124493170	Missense_Mutation	SNP	T	TCGA-UZ-A9PU-01A-11D-A42J-10	24789280	124493170	34645493	35	48308											
PTPRD	5789	hgsc.bcm.edu	37	9	8460470	8460470	+	Silent	SNP	A	A	G			TCGA-UZ-A9PU-01A-11D-A42J-10	TCGA-UZ-A9PU-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dc9ae4b-b140-4e01-9339-de952605d9eb	b843c2a5-db31-4152-b8d4-7ad08f849f7e	g.chr9:8460470A>G	ENST00000381196.4	-	30	4359	c.3816T>C	c.(3814-3816)ggT>ggC	p.G1272G	PTPRD_ENST00000360074.4_Silent_p.G1259G|PTPRD_ENST00000397617.3_Silent_p.G851G|PTPRD_ENST00000358503.5_Silent_p.G1250G|PTPRD_ENST00000355233.5_Silent_p.G861G|PTPRD_ENST00000486161.1_Silent_p.G861G|PTPRD_ENST00000540109.1_Silent_p.G1272G|PTPRD_ENST00000397606.3_Silent_p.G851G|PTPRD_ENST00000356435.5_Silent_p.G1272G|PTPRD_ENST00000397611.3_Silent_p.G858G|PTPRD_ENST00000537002.1_Silent_p.G858G	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1272					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)		CAAGGACAGGACCTACAACCC	0.458										TSP Lung(15;0.13)																																						0													180	158	165					9																	8460470		2203	4300	6503	SO:0001819	synonymous_variant	5789			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.3816T>C	chr9.hg19:g.8460470A>G			B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Silent	SNP	ENST00000381196.4	hg19	CCDS43786.1																																																																																				0.458	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			G	8460470	A	G	8460470	2	3	807	1	0	0	0	0	0	0	0	1	12805	262	10	3		3	PTPRD	9	8460470	Silent	SNP	A	TCGA-UZ-A9PU-01A-11D-A42J-10		8460470	132752961	36	48309											
BAAT	570	hgsc.bcm.edu	37	9	104130573	104130573	+	Missense_Mutation	SNP	C	C	G			TCGA-UZ-A9PU-01A-11D-A42J-10	TCGA-UZ-A9PU-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dc9ae4b-b140-4e01-9339-de952605d9eb	b843c2a5-db31-4152-b8d4-7ad08f849f7e	g.chr9:104130573C>G	ENST00000395051.3	-	2	568	c.498G>C	c.(496-498)ttG>ttC	p.L166F	BAAT_ENST00000259407.2_Missense_Mutation_p.L166F			Q14032	BAAT_HUMAN	bile acid CoA:amino acid N-acyltransferase	166					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)	AACCACCAAACAAATCAATTA	0.458																																																0													55	50	51					9																	104130573		2203	4300	6503	SO:0001583	missense	570			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.498G>C	chr9.hg19:g.104130573C>G	ENSP00000378491:p.Leu166Phe		Q3B7W9|Q96L31	Missense_Mutation	SNP	ENST00000395051.3	hg19	CCDS6752.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.865397	0.51588	.	.	ENSG00000136881	ENST00000259407;ENST00000395051	T;T	0.52754	0.65;0.65	4.76	2.76	0.32466	.	0.343871	0.22294	N	0.061953	T	0.67683	0.2919	M	0.89353	3.025	0.33048	D	0.532319	D	0.65815	0.995	D	0.65443	0.935	T	0.76710	-0.2859	10	0.87932	D	0	-8.5624	8.4628	0.32938	0.0:0.795:0.0:0.205	.	166	Q14032	BAAT_HUMAN	F	166	ENSP00000259407:L166F;ENSP00000378491:L166F	ENSP00000259407:L166F	L	-	3	2	BAAT	103170394	0.998000	0.40836	0.976000	0.42696	0.449000	0.32228	0.773000	0.26661	1.235000	0.43724	0.655000	0.94253	TTG		0.458	BAAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053433.1			G	104130573	C	G	104130573	3	3	807	1	0	0	0	0	1	0	0	0	1280	477	17	4	766	4	BAAT	9	104130573	Missense_Mutation	SNP	C	TCGA-UZ-A9PU-01A-11D-A42J-10	95670103	104130573	37082858	37	48310											
UVRAG	7405	hgsc.bcm.edu	37	11	75826995	75826995	+	Missense_Mutation	SNP	C	C	A			TCGA-UZ-A9PU-01A-11D-A42J-10	TCGA-UZ-A9PU-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dc9ae4b-b140-4e01-9339-de952605d9eb	b843c2a5-db31-4152-b8d4-7ad08f849f7e	g.chr11:75826995C>A	ENST00000356136.3	+	14	1574	c.1333C>A	c.(1333-1335)Cca>Aca	p.P445T	UVRAG_ENST00000533454.1_Missense_Mutation_p.P73T|UVRAG_ENST00000538870.1_5'UTR|UVRAG_ENST00000532130.1_Missense_Mutation_p.P73T|UVRAG_ENST00000528420.1_Missense_Mutation_p.P344T|UVRAG_ENST00000539288.1_Missense_Mutation_p.P73T|UVRAG_ENST00000531818.1_Missense_Mutation_p.P73T	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	445					DNA repair (GO:0006281)|positive regulation of autophagy (GO:0010508)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						ACTAGGGACTCCAGACTTGCG	0.393																																																0													93	81	85					11																	75826995		2200	4293	6493	SO:0001583	missense	7405			X99050, AB012958	CCDS8241.1	11q13	2012-11-15	2012-11-15		ENSG00000198382	ENSG00000198382			12640	protein-coding gene	gene with protein product	"beclin 1 binding protein"	602493	"UV radiation resistance associated gene"			9169138, 16799551, 18843052	Standard	NM_003369		Approved	VPS38	uc001oxc.3	Q9P2Y5	OTTHUMG00000165319	ENST00000356136.3:c.1333C>A	chr11.hg19:g.75826995C>A	ENSP00000348455:p.Pro445Thr		B3KTC1|O00392	Missense_Mutation	SNP	ENST00000356136.3	hg19	CCDS8241.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.524781	0.64747	.	.	ENSG00000198382	ENST00000356136;ENST00000528420;ENST00000533454;ENST00000531818;ENST00000532130;ENST00000539288	T;T	0.32023	1.47;1.47	5.69	5.69	0.88448	.	0.099426	0.64402	D	0.000001	T	0.24967	0.0606	L	0.41573	1.285	0.80722	D	1	B	0.32324	0.364	B	0.31016	0.123	T	0.03608	-1.1020	10	0.06891	T	0.86	-9.8812	17.6702	0.88214	0.0:1.0:0.0:0.0	.	445	Q9P2Y5	UVRAG_HUMAN	T	445;344;73;73;73;73	ENSP00000348455:P445T;ENSP00000436039:P344T	ENSP00000348455:P445T	P	+	1	0	UVRAG	75504643	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.753000	0.74904	2.840000	0.97914	0.655000	0.94253	CCA		0.393	UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383430.1	NM_003369		A	75826995	C	A	75826995	3	1	807	1	0	0	0	0	1	0	0	0	17113	855	30	4	1387	4	UVRAG	11	75826995	Missense_Mutation	SNP	C	TCGA-UZ-A9PU-01A-11D-A42J-10		75826995	59179521	38	48311											
CALCOCO1	57658	hgsc.bcm.edu	37	12	54115291	54115291	+	Missense_Mutation	SNP	T	T	C	rs545468025		TCGA-UZ-A9PU-01A-11D-A42J-10	TCGA-UZ-A9PU-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dc9ae4b-b140-4e01-9339-de952605d9eb	b843c2a5-db31-4152-b8d4-7ad08f849f7e	g.chr12:54115291T>C	ENST00000550804.1	-	6	778	c.718A>G	c.(718-720)Atc>Gtc	p.I240V	CALCOCO1_ENST00000430117.2_Missense_Mutation_p.I207V|CALCOCO1_ENST00000262059.4_Missense_Mutation_p.I240V|CALCOCO1_ENST00000548263.1_Missense_Mutation_p.I240V|CALCOCO1_ENST00000547885.1_5'Flank			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	240					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						TTCTCACTGATGGTCTGGATG	0.597																																																0													336	283	301					12																	54115291		2203	4300	6503	SO:0001583	missense	57658			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.718A>G	chr12.hg19:g.54115291T>C	ENSP00000449960:p.Ile240Val		B3KVA8|Q6FI59|Q71RC3|Q86WF8|Q96JU3|Q9H090	Missense_Mutation	SNP	ENST00000550804.1	hg19	CCDS8864.1	.	.	.	.	.	.	.	.	.	.	T	13.89	2.373295	0.42105	.	.	ENSG00000012822	ENST00000430117;ENST00000262059;ENST00000413257;ENST00000548263;ENST00000550804;ENST00000549935;ENST00000454332	T;T;T;T	0.10573	2.86;2.86;2.86;2.86	5.0	5.0	0.66597	.	0.157519	0.30201	N	0.010164	T	0.04272	0.0118	N	0.01761	-0.735	0.24470	N	0.994392	B;B;B;B;B;B	0.15930	0.008;0.007;0.007;0.015;0.007;0.008	B;B;B;B;B;B	0.22152	0.038;0.018;0.023;0.023;0.026;0.038	T	0.39251	-0.9623	10	0.10377	T	0.69	-7.9671	12.5553	0.56250	0.0:0.0:0.0:1.0	.	233;207;240;240;207;240	B4DG60;E9PAU0;Q9P1Z2-3;Q9P1Z2-2;E7EPK7;Q9P1Z2	.;.;.;.;.;CACO1_HUMAN	V	207;240;178;240;240;233;117	ENSP00000397189:I207V;ENSP00000262059:I240V;ENSP00000447647:I240V;ENSP00000449960:I240V	ENSP00000262059:I240V	I	-	1	0	CALCOCO1	52401558	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.902000	0.39848	2.009000	0.58944	0.460000	0.39030	ATC		0.597	CALCOCO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407233.2	NM_020898		C	54115291	T	C	54115291	3	2	807	1	0	0	0	0	1	0	0	0	2579	1464	51	3	1397	3	CALCOCO1	12	54115291	Missense_Mutation	SNP	T	TCGA-UZ-A9PU-01A-11D-A42J-10		54115291	79736604	39	48312											
CDK4	1019	hgsc.bcm.edu	37	12	58145350	58145350	+	Missense_Mutation	SNP	T	T	C			TCGA-UZ-A9PU-01A-11D-A42J-10	TCGA-UZ-A9PU-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dc9ae4b-b140-4e01-9339-de952605d9eb	b843c2a5-db31-4152-b8d4-7ad08f849f7e	g.chr12:58145350T>C	ENST00000257904.6	-	2	516	c.151A>G	c.(151-153)Atc>Gtc	p.I51V	CDK4_ENST00000312990.6_Missense_Mutation_p.I51V|CDK4_ENST00000540325.1_5'UTR|CDK4_ENST00000549606.1_Intron|CDK4_ENST00000551888.1_5'UTR	NM_000075.3	NP_000066.1	P11802	CDK4_HUMAN	cyclin-dependent kinase 4	51	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|Required for binding D-type cyclins.				cell division (GO:0051301)|circadian rhythm (GO:0007623)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell cycle arrest (GO:0071157)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell size (GO:0045793)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of translation (GO:0045727)|protein phosphorylation (GO:0006468)|regulation of gene expression (GO:0010468)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to lead ion (GO:0010288)|response to testosterone (GO:0033574)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)	chromatin (GO:0000785)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	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)			ACTGTGCTGATGGGAAGGCCT	0.592			Mis			melanoma			Hereditary Melanoma																													yes	Dom		Familial malignant melanoma	12	12q14	1019	cyclin-dependent kinase 4		E	0													113	98	103					12																	58145350		2203	4300	6503	SO:0001583	missense	1019	Familial Cancer Database	Familial Atypical Multiple Mole Melanoma sydrome, FAMMM, Familial Dysplastic Nevus syndrome	M14505	CCDS8953.1	12q13	2014-09-17				ENSG00000135446		"Cyclin-dependent kinases"	1773	protein-coding gene	gene with protein product		123829				8275715	Standard	NM_000075		Approved	PSK-J3	uc001spv.3	P11802		ENST00000257904.6:c.151A>G	chr12.hg19:g.58145350T>C	ENSP00000257904:p.Ile51Val		B2R9A0|B4DNF9|O00576|Q6FG61	Missense_Mutation	SNP	ENST00000257904.6	hg19	CCDS8953.1	.	.	.	.	.	.	.	.	.	.	T	0.310	-0.968185	0.02232	.	.	ENSG00000135446	ENST00000257904;ENST00000312990;ENST00000552254;ENST00000552388;ENST00000552862	T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16	5.23	-0.832	0.10785	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.292238	0.33144	N	0.005225	T	0.39489	0.1080	N	0.20685	0.6	0.28252	N	0.925209	B	0.02656	0.0	B	0.01281	0.0	T	0.19679	-1.0298	10	0.45353	T	0.12	.	6.7259	0.23357	0.0:0.3783:0.1311:0.4906	.	51	P11802	CDK4_HUMAN	V	51	ENSP00000257904:I51V;ENSP00000316889:I51V;ENSP00000449179:I51V;ENSP00000448963:I51V;ENSP00000446763:I51V	ENSP00000257904:I51V	I	-	1	0	CDK4	56431617	0.979000	0.34478	0.997000	0.53966	0.730000	0.41778	0.454000	0.21827	-0.025000	0.13918	-0.993000	0.02533	ATC		0.592	CDK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408790.2	NM_000075		C	58145350	T	C	58145350	3	2	807	1	0	0	0	0	1	0	0	0	3143	1464	51	3	788	3	CDK4	12	58145350	Missense_Mutation	SNP	T	TCGA-UZ-A9PU-01A-11D-A42J-10	4030059	58145350	75706545	40	48313											
FLT1	2321	hgsc.bcm.edu	37	13	28880844	28880844	+	Missense_Mutation	SNP	G	G	C			TCGA-UZ-A9PU-01A-11D-A42J-10	TCGA-UZ-A9PU-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dc9ae4b-b140-4e01-9339-de952605d9eb	b843c2a5-db31-4152-b8d4-7ad08f849f7e	g.chr13:28880844G>C	ENST00000282397.4	-	29	4037	c.3786C>G	c.(3784-3786)gaC>gaG	p.D1262E	FLT1_ENST00000543394.1_Missense_Mutation_p.D285E|FLT1_ENST00000540678.1_Missense_Mutation_p.D480E	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1262					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)	TGGGTTTGCTGTCAGTCCAGG	0.537																																																0													98	91	93					13																	28880844		2203	4300	6503	SO:0001583	missense	2321			AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3763	protein-coding gene	gene with protein product	"vascular endothelial growth factor receptor 1", "vascular permeability factor receptor"	165070	"fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.3786C>G	chr13.hg19:g.28880844G>C	ENSP00000282397:p.Asp1262Glu		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	hg19	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	G	2.348	-0.349552	0.05173	.	.	ENSG00000102755	ENST00000282397;ENST00000543394;ENST00000540678	T;T;T	0.75938	-0.74;-0.94;-0.98	5.23	-0.809	0.10864	.	0.437579	0.23416	N	0.048409	T	0.28532	0.0706	N	0.00377	-1.585	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42882	-0.9425	10	0.02654	T	1	.	5.9864	0.19436	0.0:0.2813:0.2785:0.4402	.	1262	P17948	VGFR1_HUMAN	E	1262;285;480	ENSP00000282397:D1262E;ENSP00000437841:D285E;ENSP00000443311:D480E	ENSP00000282397:D1262E	D	-	3	2	FLT1	27778844	0.303000	0.24463	0.975000	0.42487	0.967000	0.64934	-0.392000	0.07314	-0.200000	0.10300	-0.219000	0.12488	GAC		0.537	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			C	28880844	G	C	28880844	3	2	807	1	0	0	0	0	1	0	0	0	5943	1368	48	4	238	4	FLT1	13	28880844	Missense_Mutation	SNP	G	TCGA-UZ-A9PU-01A-11D-A42J-10		28880844	86289034	41	48314											
NBEA	26960	hgsc.bcm.edu	37	13	35644191	35644191	+	Frame_Shift_Del	DEL	A	A	-			TCGA-UZ-A9PU-01A-11D-A42J-10	TCGA-UZ-A9PU-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dc9ae4b-b140-4e01-9339-de952605d9eb	b843c2a5-db31-4152-b8d4-7ad08f849f7e	g.chr13:35644191delA	ENST00000400445.3	+	9	1920	c.1386delA	c.(1384-1386)ccafs	p.P462fs	NBEA_ENST00000540320.1_Frame_Shift_Del_p.P462fs|NBEA_ENST00000379939.2_Frame_Shift_Del_p.P462fs|NBEA_ENST00000310336.4_Frame_Shift_Del_p.P462fs	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	462					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)		AATCATCACCAAAAGAGAATG	0.408																																																0													50	44	46					13																	35644191		1908	4132	6040	SO:0001589	frameshift_variant	26960			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.1386delA	chr13.hg19:g.35644191delA	ENSP00000383295:p.Pro462fs		B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Frame_Shift_Del	DEL	ENST00000400445.3	hg19	CCDS45026.1																																																																																				0.408	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		-	35644191	A	-	35644191	7	5	807	1	0	1	0	1	0	0	0	0	10189	117	5	0	1420	0	NBEA	13	35644191	Frame_Shift_Del	DEL	A	TCGA-UZ-A9PU-01A-11D-A42J-10	6763347	35644191	79525687	42	48315											
SETDB2	83852	hgsc.bcm.edu	37	13	50041999	50041999	+	Splice_Site	SNP	G	G	A			TCGA-UZ-A9PU-01A-11D-A42J-10	TCGA-UZ-A9PU-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dc9ae4b-b140-4e01-9339-de952605d9eb	b843c2a5-db31-4152-b8d4-7ad08f849f7e	g.chr13:50041999G>A	ENST00000317257.8	+	6	1069		c.e6-1		SETDB2_ENST00000354234.4_Splice_Site|SETDB2_ENST00000258672.5_Splice_Site	NM_031915.2	NP_114121.2	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2						chromosome segregation (GO:0007059)|heart looping (GO:0001947)|histone H3-K9 methylation (GO:0051567)|left/right axis specification (GO:0070986)|mitotic nuclear division (GO:0007067)|negative regulation of transcription, DNA-templated (GO:0045892)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		TTTTTGTGTAGATCCTATGCC	0.363																																																0													82	76	78					13																	50041999		2203	4298	6501	SO:0001630	splice_region_variant	83852			AF334407	CCDS9417.1, CCDS53868.1	13q14	2011-07-01	2003-05-06	2003-05-09	ENSG00000136169	ENSG00000136169		"Chromatin-modifying enzymes / K-methyltransferases"	20263	protein-coding gene	gene with protein product		607865	"chromosome 13 open reading frame 4"	C13orf4		11306461	Standard	NM_031915		Approved	CLLD8, CLLL8, KMT1F	uc001vda.3	Q96T68	OTTHUMG00000016918	ENST00000317257.8:c.245-1G>A	chr13.hg19:g.50041999G>A			Q5TC65|Q5TC66|Q5W0A7|Q659A7|Q86UD6|Q96AI6	Splice_Site	SNP	ENST00000317257.8	hg19	CCDS9417.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.446781	0.43429	.	.	ENSG00000136169	ENST00000354234;ENST00000317257;ENST00000258672	.	.	.	4.96	4.96	0.65561	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8987	0.63790	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SETDB2	48940000	1.000000	0.71417	0.787000	0.31911	0.547000	0.35210	4.071000	0.57556	2.707000	0.92482	0.655000	0.94253	.		0.363	SETDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044925.1	NM_031915	Intron	A	50041999	G	A	50041999	5	1	807	1	0	0	0	0	0	0	1	0	14145	956	33	2	262	2	SETDB2	13	50041999	Splice_Site	SNP	G	TCGA-UZ-A9PU-01A-11D-A42J-10	14397808	50041999	65127879	43	48316											
SYNE2	23224	hgsc.bcm.edu	37	14	64519388	64519388	+	Frame_Shift_Del	DEL	T	T	-			TCGA-UZ-A9PU-01A-11D-A42J-10	TCGA-UZ-A9PU-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dc9ae4b-b140-4e01-9339-de952605d9eb	b843c2a5-db31-4152-b8d4-7ad08f849f7e	g.chr14:64519388delT	ENST00000344113.4	+	48	8969	c.8757delT	c.(8755-8757)aatfs	p.N2919fs	SYNE2_ENST00000358025.3_Frame_Shift_Del_p.N2919fs|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Frame_Shift_Del_p.N2952fs	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2919					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)		AGTTGAAAAATCTTAAGATTA	0.328																																																0													31	29	30					14																	64519388		1834	4083	5917	SO:0001589	frameshift_variant	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.8757delT	chr14.hg19:g.64519388delT	ENSP00000341781:p.Asn2919fs		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Frame_Shift_Del	DEL	ENST00000344113.4	hg19	CCDS41963.1																																																																																				0.328	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		-	64519388	T	-	64519388	7	5	807	1	0	1	0	1	0	0	0	0	15451	1432	50	0	8943	0	SYNE2	14	64519388	Frame_Shift_Del	DEL	T	TCGA-UZ-A9PU-01A-11D-A42J-10		64519388	42830152	44	48317											
SYNE2	23224	hgsc.bcm.edu	37	14	64669618	64669618	+	Silent	SNP	C	C	T			TCGA-UZ-A9PU-01A-11D-A42J-10	TCGA-UZ-A9PU-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dc9ae4b-b140-4e01-9339-de952605d9eb	b843c2a5-db31-4152-b8d4-7ad08f849f7e	g.chr14:64669618C>T	ENST00000344113.4	+	100	18350	c.18138C>T	c.(18136-18138)tcC>tcT	p.S6046S	ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Silent_p.S2680S|SYNE2_ENST00000358025.3_Silent_p.S6046S|SYNE2_ENST00000357395.3_Silent_p.S2431S|SYNE2_ENST00000394768.2_Silent_p.S2431S|SYNE2_ENST00000555022.1_5'Flank|SYNE2_ENST00000554584.1_Silent_p.S6008S	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6046					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)		CTGAGCTTTCCAAGCCTGTTG	0.483																																																0													142	124	130					14																	64669618		2203	4300	6503	SO:0001819	synonymous_variant	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.18138C>T	chr14.hg19:g.64669618C>T			Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	hg19	CCDS41963.1																																																																																				0.483	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		T	64669618	C	T	64669618	2	4	807	1	0	0	0	0	0	0	0	1	15451	581	21	2		2	SYNE2	14	64669618	Silent	SNP	C	TCGA-UZ-A9PU-01A-11D-A42J-10	150230	64669618	42679922	45	48318											
SNW1	22938	hgsc.bcm.edu	37	14	78203382	78203382	+	Silent	SNP	A	A	G			TCGA-UZ-A9PU-01A-11D-A42J-10	TCGA-UZ-A9PU-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dc9ae4b-b140-4e01-9339-de952605d9eb	b843c2a5-db31-4152-b8d4-7ad08f849f7e	g.chr14:78203382A>G	ENST00000261531.7	-	6	632	c.570T>C	c.(568-570)tcT>tcC	p.S190S	SNW1_ENST00000554775.1_Silent_p.S28S|SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000555761.1_Silent_p.S190S	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	190	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)		GTTTAGCTCCAGAGTTGAATG	0.398																																																0													156	140	145					14																	78203382		2203	4300	6503	SO:0001819	synonymous_variant	22938			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.570T>C	chr14.hg19:g.78203382A>G			A8K8A9|Q13483|Q32N03|Q5D0D6	Silent	SNP	ENST00000261531.7	hg19	CCDS9867.1																																																																																				0.398	SNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413912.1	NM_012245		G	78203382	A	G	78203382	2	3	807	1	0	0	0	0	0	0	0	1	14885	175	7	3		3	SNW1	14	78203382	Silent	SNP	A	TCGA-UZ-A9PU-01A-11D-A42J-10	13533764	78203382	29146158	46	48319											
ZWILCH	55055	hgsc.bcm.edu	37	15	66838985	66838985	+	Missense_Mutation	SNP	A	A	G			TCGA-UZ-A9PU-01A-11D-A42J-10	TCGA-UZ-A9PU-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dc9ae4b-b140-4e01-9339-de952605d9eb	b843c2a5-db31-4152-b8d4-7ad08f849f7e	g.chr15:66838985A>G	ENST00000307897.5	+	18	2124	c.1744A>G	c.(1744-1746)Atg>Gtg	p.M582V	ZWILCH_ENST00000446801.2_Missense_Mutation_p.M468V|ZWILCH_ENST00000535141.2_Missense_Mutation_p.M468V|ZWILCH_ENST00000565627.1_Missense_Mutation_p.M468V	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN	zwilch kinetochore protein	582					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						CTTTACTAACATGGTTACCTG	0.368																																																0													108	105	106					15																	66838985		2201	4299	6500	SO:0001583	missense	55055			AK023175	CCDS10219.1, CCDS73746.1	15q22.31	2013-01-17	2012-12-13		ENSG00000174442	ENSG00000174442			25468	protein-coding gene	gene with protein product		609984	"Zwilch, kinetochore associated, homolog (Drosophila)"			12686595	Standard	NM_017975		Approved	FLJ10036, KNTC1AP	uc002aqb.3	Q9H900	OTTHUMG00000133194	ENST00000307897.5:c.1744A>G	chr15.hg19:g.66838985A>G	ENSP00000311429:p.Met582Val		B3KVB8|Q6N049|Q8N404|Q96SY7|Q9NWG7	Missense_Mutation	SNP	ENST00000307897.5	hg19	CCDS10219.1	.	.	.	.	.	.	.	.	.	.	A	15.98	2.993504	0.54041	.	.	ENSG00000174442	ENST00000307897;ENST00000446801;ENST00000535141	T;T;T	0.40756	1.02;1.02;1.02	5.63	-7.38	0.01407	.	0.476664	0.26539	N	0.023813	T	0.28699	0.0711	M	0.64997	1.995	0.09310	N	1	B	0.25809	0.135	B	0.23852	0.049	T	0.09574	-1.0668	10	0.62326	D	0.03	-4.3179	4.9984	0.14251	0.2239:0.5001:0.1786:0.0973	.	582	Q9H900	ZWILC_HUMAN	V	582;468;468	ENSP00000311429:M582V;ENSP00000402217:M468V;ENSP00000437749:M468V	ENSP00000311429:M582V	M	+	1	0	ZWILCH	64626039	0.001000	0.12720	0.000000	0.03702	0.948000	0.59901	-0.202000	0.09451	-1.637000	0.01531	-1.883000	0.00544	ATG		0.368	ZWILCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256904.4	NM_017975		G	66838985	A	G	66838985	3	3	807	1	0	0	0	0	1	0	0	0	18253	217	8	3	1814	3	ZWILCH	15	66838985	Missense_Mutation	SNP	A	TCGA-UZ-A9PU-01A-11D-A42J-10		66838985	35692407	47	48320											
CYP1A2	1544	hgsc.bcm.edu	37	15	75042609	75042609	+	Missense_Mutation	SNP	A	A	C			TCGA-UZ-A9PU-01A-11D-A42J-10	TCGA-UZ-A9PU-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dc9ae4b-b140-4e01-9339-de952605d9eb	b843c2a5-db31-4152-b8d4-7ad08f849f7e	g.chr15:75042609A>C	ENST00000343932.4	+	2	593	c.530A>C	c.(529-531)cAg>cCg	p.Q177P		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	177					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)"	AGCAGGTTGCAGGAGCTGATG	0.582																																																0													157	129	138					15																	75042609		2197	4296	6493	SO:0001583	missense	1544			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.530A>C	chr15.hg19:g.75042609A>C	ENSP00000342007:p.Gln177Pro		Q16754|Q6NWU5|Q9BXX7|Q9UK49	Missense_Mutation	SNP	ENST00000343932.4	hg19	CCDS32293.1	.	.	.	.	.	.	.	.	.	.	A	13.97	2.395368	0.42512	.	.	ENSG00000140505	ENST00000343932	T	0.70045	-0.45	4.98	3.82	0.43975	.	0.467933	0.25916	N	0.027474	D	0.82586	0.5069	M	0.92649	3.33	0.30278	N	0.791562	D	0.69078	0.997	D	0.70227	0.968	T	0.79804	-0.1649	10	0.30854	T	0.27	.	9.8555	0.41084	0.7119:0.0:0.0:0.2881	.	177	P05177-2	.	P	177	ENSP00000342007:Q177P	ENSP00000342007:Q177P	Q	+	2	0	CYP1A2	72829662	0.026000	0.19158	0.926000	0.36857	0.943000	0.58893	1.348000	0.33987	0.879000	0.35944	0.459000	0.35465	CAG		0.582	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421263.2	NM_000761		C	75042609	A	C	75042609	3	2	807	1	0	0	0	0	1	0	0	0	4152	188	7	5	532	5	CYP1A2	15	75042609	Missense_Mutation	SNP	A	TCGA-UZ-A9PU-01A-11D-A42J-10	8203624	75042609	27488783	48	48321											
IL16	3603	hgsc.bcm.edu	37	15	81598444	81598444	+	Missense_Mutation	SNP	C	C	G			TCGA-UZ-A9PU-01A-11D-A42J-10	TCGA-UZ-A9PU-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dc9ae4b-b140-4e01-9339-de952605d9eb	b843c2a5-db31-4152-b8d4-7ad08f849f7e	g.chr15:81598444C>G	ENST00000302987.4	+	16	3616	c.3616C>G	c.(3616-3618)Ctc>Gtc	p.L1206V	RP11-761I4.4_ENST00000607019.1_RNA|IL16_ENST00000394660.2_Missense_Mutation_p.L1206V|IL16_ENST00000394652.2_Missense_Mutation_p.L505V			Q14005	IL16_HUMAN	interleukin 16	1206					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						CATGCCCGACCTCAACTCCTC	0.567																																																0													89	92	91					15																	81598444		2203	4300	6503	SO:0001583	missense	3603			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.3616C>G	chr15.hg19:g.81598444C>G	ENSP00000302935:p.Leu1206Val		A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	ENST00000302987.4	hg19	CCDS42069.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.66|13.66	2.303149|2.303149	0.40795|0.40795	.|.	.|.	ENSG00000172349|ENSG00000172349	ENST00000394660;ENST00000355368;ENST00000302987;ENST00000394653;ENST00000394652;ENST00000394656|ENST00000329842	T;T;T|.	0.39229|.	2.64;1.09;1.09|.	5.03|5.03	3.04|3.04	0.35103|0.35103	PDZ/DHR/GLGF (2);|.	0.206204|.	0.24341|.	N|.	0.039367|.	T|T	0.55955|0.55955	0.1953|0.1953	M|M	0.75447|0.75447	2.3|2.3	0.09310|0.09310	N|N	1|1	D;P;P;P;B|.	0.57571|.	0.98;0.601;0.843;0.601;0.029|.	P;B;D;B;B|.	0.68192|.	0.815;0.425;0.956;0.242;0.099|.	T|T	0.50259|0.50259	-0.8849|-0.8849	10|6	0.29301|0.72032	T|D	0.29|0.01	.|.	8.2659|8.2659	0.31813|0.31813	0.152:0.7674:0.0:0.0806|0.152:0.7674:0.0:0.0806	.|.	1038;699;596;1206;1206|.	F8W7Z5;Q6ZTT5;B3KY62;Q14005;Q14005-2|.	.;.;.;IL16_HUMAN;.|.	V|R	1206;1038;1206;596;505;505|716	ENSP00000378155:L1206V;ENSP00000302935:L1206V;ENSP00000378147:L505V|.	ENSP00000302935:L1206V|ENSP00000329317:P716R	L|P	+|+	1|2	0|0	IL16|IL16	79385499|79385499	0.766000|0.766000	0.28496|0.28496	0.148000|0.148000	0.22405|0.22405	0.023000|0.023000	0.10783|0.10783	1.183000|1.183000	0.32041|0.32041	1.027000|1.027000	0.39758|0.39758	0.561000|0.561000	0.74099|0.74099	CTC|CCT		0.567	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		G	81598444	C	G	81598444	3	3	807	1	0	0	0	0	1	0	0	0	7635	681	24	4	3678	4	IL16	15	81598444	Missense_Mutation	SNP	C	TCGA-UZ-A9PU-01A-11D-A42J-10	6555835	81598444	20932948	49	48322											
CACNA1H	8912	hgsc.bcm.edu	37	16	1270632	1270632	+	Frame_Shift_Del	DEL	C	C	-	rs532352517		TCGA-UZ-A9PU-01A-11D-A42J-10	TCGA-UZ-A9PU-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dc9ae4b-b140-4e01-9339-de952605d9eb	b843c2a5-db31-4152-b8d4-7ad08f849f7e	g.chr16:1270632delC	ENST00000348261.5	+	35	6948	c.6700delC	c.(6700-6702)cccfs	p.P2234fs	CACNA1H_ENST00000565831.1_Frame_Shift_Del_p.P2228fs|CACNA1H_ENST00000358590.4_Frame_Shift_Del_p.P2228fs	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	2234					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)	CTCCCTGGAGCCCACAGAGGG	0.746																																																0													7	8	8					16																	1270632		1700	3835	5535	SO:0001589	frameshift_variant	8912			AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.6700delC	chr16.hg19:g.1270632delC	ENSP00000334198:p.Pro2234fs		B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Frame_Shift_Del	DEL	ENST00000348261.5	hg19	CCDS45375.1																																																																																				0.746	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		-	1270632	C	-	1270632	7	5	807	1	0	1	0	1	0	0	0	0	2547	739	26	0	6834	0	CACNA1H	16	1270632	Frame_Shift_Del	DEL	C	TCGA-UZ-A9PU-01A-11D-A42J-10		1270632	89084121	50	48323											
NLRP1	22861	hgsc.bcm.edu	37	17	5445303	5445303	+	Missense_Mutation	SNP	G	G	T			TCGA-UZ-A9PU-01A-11D-A42J-10	TCGA-UZ-A9PU-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dc9ae4b-b140-4e01-9339-de952605d9eb	b843c2a5-db31-4152-b8d4-7ad08f849f7e	g.chr17:5445303G>T	ENST00000572272.1	-	6	2572	c.2573C>A	c.(2572-2574)gCc>gAc	p.A858D	NLRP1_ENST00000345221.3_Missense_Mutation_p.A858D|NLRP1_ENST00000577119.1_Missense_Mutation_p.A858D|NLRP1_ENST00000354411.3_Missense_Mutation_p.A858D|NLRP1_ENST00000269280.4_Missense_Mutation_p.A858D|NLRP1_ENST00000262467.5_Missense_Mutation_p.A858D|NLRP1_ENST00000571307.1_5'UTR			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	858					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)				CAGCCCAAAGGCAAGGTCCTT	0.557																																																0													81	62	68					17																	5445303		2203	4300	6503	SO:0001583	missense	22861			AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"Nucleotide-binding domain and leucine rich repeat containing"	14374	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"	606636	"NACHT, leucine rich repeat and PYD (pyrin domain) containing 1", "systemic lupus erythematosus, vitiligo-related 1"	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.2573C>A	chr17.hg19:g.5445303G>T	ENSP00000460475:p.Ala858Asp		E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	ENST00000572272.1	hg19	CCDS42246.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.061098	0.36373	.	.	ENSG00000091592	ENST00000544378;ENST00000262467;ENST00000269280;ENST00000354411;ENST00000345221;ENST00000537069	T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96	2.13	1.13	0.20643	.	0.496363	0.15148	N	0.277896	T	0.65015	0.2651	M	0.93638	3.44	0.09310	N	1	D;D;D;D;D;D	0.76494	0.999;0.998;0.998;0.998;0.999;0.997	D;D;D;P;D;D	0.66351	0.929;0.943;0.943;0.852;0.929;0.925	T	0.53493	-0.8431	10	0.66056	D	0.02	.	4.7785	0.13190	0.1885:0.0:0.8115:0.0	.	124;858;858;858;858;858	F5H042;Q9C000-3;Q9C000-4;Q9C000;Q9C000-2;E9PE50	.;.;.;NALP1_HUMAN;.;.	D	858;858;858;858;858;124	ENSP00000442029:A858D;ENSP00000262467:A858D;ENSP00000269280:A858D;ENSP00000346390:A858D;ENSP00000324366:A858D	ENSP00000262467:A858D	A	-	2	0	NLRP1	5386027	0.049000	0.20398	0.014000	0.15608	0.010000	0.07245	2.010000	0.40913	0.494000	0.27859	-0.266000	0.10368	GCC		0.557	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004		T	5445303	G	T	5445303	3	4	807	1	0	0	0	0	1	0	0	0	10473	1203	42	4	1971	4	NLRP1	17	5445303	Missense_Mutation	SNP	G	TCGA-UZ-A9PU-01A-11D-A42J-10		5445303	75749907	51	48324											
SENP3	26168	hgsc.bcm.edu	37	17	7474732	7474733	+	In_Frame_Ins	INS	-	-	CAA			TCGA-UZ-A9PU-01A-11D-A42J-10	TCGA-UZ-A9PU-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dc9ae4b-b140-4e01-9339-de952605d9eb	b843c2a5-db31-4152-b8d4-7ad08f849f7e	g.chr17:7474732_7474733insCAA	ENST00000429205.2	+	12	1705_1706	c.1656_1657insCAA	c.(1657-1659)cag>CAAcag	p.553_553Q>QQ	SENP3_ENST00000578868.1_3'UTR|SENP3_ENST00000321337.7_In_Frame_Ins_p.552_552Q>QQ|SENP3-EIF4A1_ENST00000579777.1_RNA|EIF4A1_ENST00000582746.1_5'Flank|EIF4A1_ENST00000380512.5_5'Flank|EIF4A1_ENST00000293831.8_5'Flank|EIF4A1_ENST00000577269.1_5'Flank			Q9H4L4	SENP3_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 3	553						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)				TCAGCTTCACCCAGCAGGACAT	0.54																																																0																																										SO:0001652	inframe_insertion	26168			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		Exception_encountered	chr17.hg19:g.7474732_7474733insCAA	ENSP00000403712:p.Gln554dup		Q66K15|Q86VS7|Q96PS4|Q9Y3W9	In_Frame_Ins	INS	ENST00000429205.2	hg19																																																																																					0.54	SENP3-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015670		CAA	7474733	-	CAA	7474732	7	5	807	1	0	1	1	0	0	0	0	0	14054	610	22	0	1695	0	SENP3	17	7474732	In_Frame_Ins	INS	-	TCGA-UZ-A9PU-01A-11D-A42J-10	2029429	7474732	73720478	52	48325	522	2									
SENP3	26168	hgsc.bcm.edu	37	17	7474735	7474735	+	Silent	SNP	G	G	A			TCGA-UZ-A9PU-01A-11D-A42J-10	TCGA-UZ-A9PU-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dc9ae4b-b140-4e01-9339-de952605d9eb	b843c2a5-db31-4152-b8d4-7ad08f849f7e	g.chr17:7474735G>A	ENST00000429205.2	+	12	1708	c.1659G>A	c.(1657-1659)caG>caA	p.Q553Q	SENP3_ENST00000578868.1_3'UTR|SENP3_ENST00000321337.7_Silent_p.Q552Q|SENP3-EIF4A1_ENST00000579777.1_RNA|EIF4A1_ENST00000582746.1_5'Flank|EIF4A1_ENST00000380512.5_5'Flank|EIF4A1_ENST00000293831.8_5'Flank|EIF4A1_ENST00000577269.1_5'Flank			Q9H4L4	SENP3_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 3	553						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)				GCTTCACCCAGCAGGACATGC	0.547																																																0													102	101	102					17																	7474735		1987	4188	6175	SO:0001819	synonymous_variant	26168			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.1659G>A	chr17.hg19:g.7474735G>A			Q66K15|Q86VS7|Q96PS4|Q9Y3W9	Silent	SNP	ENST00000429205.2	hg19																																																																																					0.547	SENP3-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015670		A	7474735	G	A	7474735	2	1	807	1	0	0	0	0	0	0	0	1	14054	962	34	2		2	SENP3	17	7474735	Silent	SNP	G	TCGA-UZ-A9PU-01A-11D-A42J-10	3	7474735	73720475	53	48326	522	2									
MAPT	4137	hgsc.bcm.edu	37	17	44073780	44073780	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UZ-A9PU-01A-11D-A42J-10	TCGA-UZ-A9PU-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dc9ae4b-b140-4e01-9339-de952605d9eb	b843c2a5-db31-4152-b8d4-7ad08f849f7e	g.chr17:44073780C>A	ENST00000571987.1	+	9	1523	c.1523C>A	c.(1522-1524)tCa>tAa	p.S508*	MAPT_ENST00000431008.3_Nonsense_Mutation_p.S191*|MAPT_ENST00000446361.3_Nonsense_Mutation_p.S133*|MAPT_ENST00000420682.2_Nonsense_Mutation_p.S162*|MAPT_ENST00000347967.5_Nonsense_Mutation_p.S97*|MAPT_ENST00000334239.8_Nonsense_Mutation_p.S133*|STH_ENST00000537309.1_5'Flank|MAPT_ENST00000262410.5_Nonsense_Mutation_p.S508*|MAPT_ENST00000344290.5_Nonsense_Mutation_p.S526*|MAPT_ENST00000351559.5_Nonsense_Mutation_p.S191*|MAPT_ENST00000570299.1_3'UTR|MAPT_ENST00000574436.1_Nonsense_Mutation_p.S191*|MAPT_ENST00000535772.1_Nonsense_Mutation_p.S191*|MAPT_ENST00000576518.1_Nonsense_Mutation_p.S122*|MAPT_ENST00000340799.5_Nonsense_Mutation_p.S162*|MAPT_ENST00000415613.2_Nonsense_Mutation_p.S526*			P10636	TAU_HUMAN	microtubule-associated protein tau	508					adult walking behavior (GO:0007628)|apoptotic process (GO:0006915)|axon cargo transport (GO:0008088)|axon extension (GO:0048675)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|generation of neurons (GO:0048699)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of microtubule polymerization (GO:0031116)|regulation of autophagy (GO:0010506)|regulation of microtubule polymerization (GO:0031113)|regulation of microtubule-based movement (GO:0060632)	axon (GO:0030424)|axoneme (GO:0005930)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|growth cone (GO:0030426)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nuclear periphery (GO:0034399)|plasma membrane (GO:0005886)|tubulin complex (GO:0045298)	apolipoprotein binding (GO:0034185)|enzyme binding (GO:0019899)|lipoprotein particle binding (GO:0071813)|microtubule binding (GO:0008017)|SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)			Docetaxel(DB01248)|Paclitaxel(DB01229)	CCTCCAAAATCAGGGGATCGC	0.682																																																0													18	23	21					17																	44073780		2179	4264	6443	SO:0001587	stop_gained	4137			J03778	CCDS11499.1, CCDS11500.1, CCDS11501.1, CCDS11502.1, CCDS45715.1, CCDS45716.1, CCDS56033.1	17q21	2014-09-17			ENSG00000186868	ENSG00000186868			6893	protein-coding gene	gene with protein product	"G protein beta1/gamma2 subunit-interacting factor 1", "microtubule-associated protein tau, isoform 4", "protein phosphatase 1, regulatory subunit 103"	157140		DDPAC, MAPTL		7936241, 3131773	Standard	NM_001123067		Approved	MTBT1, tau, PPND, FTDP-17, TAU, MSTD, MTBT2, FLJ31424, MGC138549, PPP1R103	uc010dau.3	P10636	OTTHUMG00000168833	ENST00000571987.1:c.1523C>A	chr17.hg19:g.44073780C>A	ENSP00000458742:p.Ser508*		P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	Nonsense_Mutation	SNP	ENST00000571987.1	hg19	CCDS11501.1	.	.	.	.	.	.	.	.	.	.	C	36	5.672474	0.96754	.	.	ENSG00000186868	ENST00000344290;ENST00000262410;ENST00000351559;ENST00000340799;ENST00000535772;ENST00000347967;ENST00000354326;ENST00000446361;ENST00000334239;ENST00000420682;ENST00000415613;ENST00000431008	.	.	.	5.62	5.62	0.85841	.	0.000000	0.39985	N	0.001217	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.1915	18.2196	0.89897	0.0:1.0:0.0:0.0	.	.	.	.	X	526;508;191;162;191;97;140;133;133;162;526;45	.	ENSP00000262410:S508X	S	+	2	0	MAPT	41429617	1.000000	0.71417	0.996000	0.52242	0.796000	0.44982	5.434000	0.66526	2.651000	0.90000	0.561000	0.74099	TCA		0.682	MAPT-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000440133.1	NM_016835		A	44073780	C	A	44073780	4	1	807	1	0	0	0	0	0	1	0	0	9299	838	29	4	1615	4	MAPT	17	44073780	Nonsense_Mutation	SNP	C	TCGA-UZ-A9PU-01A-11D-A42J-10	36599045	44073780	37121430	54	48327											
BZRAP1	9256	hgsc.bcm.edu	37	17	56405116	56405116	+	Missense_Mutation	SNP	T	T	C			TCGA-UZ-A9PU-01A-11D-A42J-10	TCGA-UZ-A9PU-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dc9ae4b-b140-4e01-9339-de952605d9eb	b843c2a5-db31-4152-b8d4-7ad08f849f7e	g.chr17:56405116T>C	ENST00000343736.4	-	1	329	c.166A>G	c.(166-168)Agg>Ggg	p.R56G	BZRAP1-AS1_ENST00000579527.1_RNA|BZRAP1_ENST00000355701.3_Missense_Mutation_p.R56G|BZRAP1_ENST00000268893.6_Missense_Mutation_p.R56G|BZRAP1-AS1_ENST00000580515.1_RNA|BZRAP1-AS1_ENST00000578334.1_RNA|BZRAP1-AS1_ENST00000580633.1_RNA			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	56						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)					TCCTCAGACCTCAGTTCTTGA	0.622																																																0													72	65	67					17																	56405116		2203	4300	6503	SO:0001583	missense	9256			AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.166A>G	chr17.hg19:g.56405116T>C	ENSP00000345824:p.Arg56Gly		O75111|Q8N5W3	Missense_Mutation	SNP	ENST00000343736.4	hg19	CCDS11605.1	.	.	.	.	.	.	.	.	.	.	T	9.117	1.008075	0.19199	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	T;T;T	0.05447	3.57;3.57;3.44	4.87	0.943	0.19531	.	0.624206	0.15757	N	0.246132	T	0.03827	0.0108	L	0.31294	0.92	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.08055	0.0;0.001;0.003	T	0.47156	-0.9139	10	0.09084	T	0.74	.	6.0457	0.19758	0.0:0.3872:0.0:0.6128	.	56;56;56	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	G	56	ENSP00000347929:R56G;ENSP00000345824:R56G;ENSP00000268893:R56G	ENSP00000268893:R56G	R	-	1	2	BZRAP1	53760115	0.001000	0.12720	0.004000	0.12327	0.106000	0.19336	0.525000	0.22956	0.299000	0.22661	0.379000	0.24179	AGG		0.622	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758		C	56405116	T	C	56405116	3	2	807	1	0	0	0	0	1	0	0	0	1579	1550	54	3	5531	3	BZRAP1	17	56405116	Missense_Mutation	SNP	T	TCGA-UZ-A9PU-01A-11D-A42J-10	12331336	56405116	24790094	55	48328											
CLUL1	27098	hgsc.bcm.edu	37	18	619309	619309	+	Missense_Mutation	SNP	A	A	G			TCGA-UZ-A9PU-01A-11D-A42J-10	TCGA-UZ-A9PU-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dc9ae4b-b140-4e01-9339-de952605d9eb	b843c2a5-db31-4152-b8d4-7ad08f849f7e	g.chr18:619309A>G	ENST00000400606.2	+	3	348	c.203A>G	c.(202-204)aAg>aGg	p.K68R	CLUL1_ENST00000579494.1_Missense_Mutation_p.K68R|CLUL1_ENST00000338387.7_Missense_Mutation_p.K68R|CLUL1_ENST00000580436.1_3'UTR|CLUL1_ENST00000540035.1_Missense_Mutation_p.K120R|CLUL1_ENST00000581619.1_Missense_Mutation_p.K93R	NM_014410.4	NP_055225.1	Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal)	68					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						AGAAAAGAGAAGGAACACACC	0.398																																																0													143	133	136					18																	619309		1903	4129	6032	SO:0001583	missense	27098			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.203A>G	chr18.hg19:g.619309A>G	ENSP00000383449:p.Lys68Arg		A0FDN7	Missense_Mutation	SNP	ENST00000400606.2	hg19	CCDS42405.1	.	.	.	.	.	.	.	.	.	.	A	12.97	2.096911	0.37048	.	.	ENSG00000079101	ENST00000400606;ENST00000540035;ENST00000338387	T;T;T	0.24151	1.87;1.87;1.87	5.26	3.97	0.46021	Clusterin, N-terminal (1);	0.286892	0.38663	N	0.001609	T	0.17789	0.0427	N	0.22421	0.69	0.21325	N	0.999722	B;B	0.30973	0.257;0.302	B;B	0.30855	0.074;0.121	T	0.19484	-1.0304	10	0.54805	T	0.06	-9.7385	11.7298	0.51730	0.8008:0.0:0.0:0.1991	.	120;68	F5GWQ8;Q15846	.;CLUL1_HUMAN	R	68;120;68	ENSP00000383449:K68R;ENSP00000441726:K120R;ENSP00000341128:K68R	ENSP00000341128:K68R	K	+	2	0	CLUL1	609309	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	3.195000	0.51013	1.989000	0.58080	0.528000	0.53228	AAG		0.398	CLUL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441183.1			G	619309	A	G	619309	3	3	807	1	0	0	0	0	1	0	0	0	3572	72	3	3	209	3	CLUL1	18	619309	Missense_Mutation	SNP	A	TCGA-UZ-A9PU-01A-11D-A42J-10		619309	77457939	56	48329											
CLIP3	25999	hgsc.bcm.edu	37	19	36510103	36510103	+	Missense_Mutation	SNP	C	C	T			TCGA-UZ-A9PU-01A-11D-A42J-10	TCGA-UZ-A9PU-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dc9ae4b-b140-4e01-9339-de952605d9eb	b843c2a5-db31-4152-b8d4-7ad08f849f7e	g.chr19:36510103C>T	ENST00000360535.4	-	8	1251	c.1024G>A	c.(1024-1026)Gtt>Att	p.V342I	AC002116.7_ENST00000586962.1_RNA|CLIP3_ENST00000593074.1_Missense_Mutation_p.V342I	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	342	CAP-Gly 1. {ECO:0000255|PROSITE- ProRule:PRU00045}.				chaperone-mediated protein transport (GO:0072321)|fat cell differentiation (GO:0045444)|membrane biogenesis (GO:0044091)|negative regulation of microtubule polymerization (GO:0031115)|peptidyl-L-cysteine S-palmitoylation (GO:0018230)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein phosphorylation (GO:0001934)	early endosome membrane (GO:0031901)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)|trans-Golgi network membrane (GO:0032588)	ganglioside binding (GO:0035594)|microtubule binding (GO:0008017)			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AAGTACCGAACGCCCCCAACG	0.637																																																0													109	92	98					19																	36510103		2203	4300	6503	SO:0001583	missense	25999			AJ427922	CCDS12486.1	19q13.12	2014-08-12			ENSG00000105270	ENSG00000105270		"Ankyrin repeat domain containing"	24314	protein-coding gene	gene with protein product	"CLIP-170-related", "restin-like 1"	607382				11854307	Standard	NM_015526		Approved	CLIPR-59, RSNL1	uc002ocz.2	Q96DZ5	OTTHUMG00000181747	ENST00000360535.4:c.1024G>A	chr19.hg19:g.36510103C>T	ENSP00000353732:p.Val342Ile		A8K0E4|Q8WWL1|Q96C99|Q9UFT7	Missense_Mutation	SNP	ENST00000360535.4	hg19	CCDS12486.1	.	.	.	.	.	.	.	.	.	.	c	13.77	2.336043	0.41398	.	.	ENSG00000105270	ENST00000360535;ENST00000544037;ENST00000534959	T	0.75477	-0.94	5.25	4.21	0.49690	Cytoskeleton-associated protein, Gly-rich domain (4);Cytoskeleton-associated protein, Gly-rich conserved site (1);	0.158804	0.47852	D	0.000220	T	0.55705	0.1937	N	0.25060	0.705	0.32427	N	0.548523	B	0.14805	0.011	B	0.12837	0.008	T	0.55528	-0.8127	10	0.23891	T	0.37	-29.9258	7.0873	0.25264	0.0:0.8131:0.0:0.1869	.	342	Q96DZ5	CLIP3_HUMAN	I	342;224;318	ENSP00000353732:V342I	ENSP00000353732:V342I	V	-	1	0	CLIP3	41201943	0.638000	0.27225	0.983000	0.44433	0.899000	0.52679	1.249000	0.32839	2.478000	0.83669	0.580000	0.79431	GTT		0.637	CLIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457426.1	NM_015526		T	36510103	C	T	36510103	3	4	807	1	0	0	0	0	1	0	0	0	3536	536	19	1	647	1	CLIP3	19	36510103	Missense_Mutation	SNP	C	TCGA-UZ-A9PU-01A-11D-A42J-10		36510103	22618880	57	48330											
PRR12	57479	hgsc.bcm.edu	37	19	50105116	50105116	+	Missense_Mutation	SNP	G	G	C			TCGA-UZ-A9PU-01A-11D-A42J-10	TCGA-UZ-A9PU-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dc9ae4b-b140-4e01-9339-de952605d9eb	b843c2a5-db31-4152-b8d4-7ad08f849f7e	g.chr19:50105116G>C	ENST00000418929.2	+	6	4726	c.4714G>C	c.(4714-4716)Ggc>Cgc	p.G1572R		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	751							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)		TGGCGGAGAGGGCATCTTCCG	0.642																																																0													23	32	29					19																	50105116		2055	4175	6230	SO:0001583	missense	57479			AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"KIAA1205"	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.4714G>C	chr19.hg19:g.50105116G>C	ENSP00000394510:p.Gly1572Arg		E9PB06|Q8N4J6	Missense_Mutation	SNP	ENST00000418929.2	hg19	CCDS46143.1	.	.	.	.	.	.	.	.	.	.	G	8.279	0.815113	0.16607	.	.	ENSG00000126464	ENST00000418929;ENST00000246798;ENST00000314734	.	.	.	3.72	3.72	0.42706	.	0.200317	0.24566	N	0.037429	T	0.68897	0.3051	L	0.48642	1.525	0.47407	D	0.999416	D	0.89917	1.0	D	0.76575	0.988	T	0.73094	-0.4091	9	0.87932	D	0	-14.9557	14.4198	0.67175	0.0:0.0:1.0:0.0	.	1572	Q9ULL5-3	.	R	1572;752;752	.	ENSP00000246798:G752R	G	+	1	0	PRR12	54796928	1.000000	0.71417	1.000000	0.80357	0.369000	0.29798	7.892000	0.87324	1.902000	0.55061	0.305000	0.20034	GGC		0.642	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		C	50105116	G	C	50105116	3	2	807	1	0	0	0	0	1	0	0	0	12589	1232	43	4	4736	4	PRR12	19	50105116	Missense_Mutation	SNP	G	TCGA-UZ-A9PU-01A-11D-A42J-10	13595013	50105116	9023867	58	48331											
ZNF616	90317	hgsc.bcm.edu	37	19	52618903	52618903	+	Missense_Mutation	SNP	T	T	C			TCGA-UZ-A9PU-01A-11D-A42J-10	TCGA-UZ-A9PU-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dc9ae4b-b140-4e01-9339-de952605d9eb	b843c2a5-db31-4152-b8d4-7ad08f849f7e	g.chr19:52618903T>C	ENST00000600228.1	-	4	1775	c.1514A>G	c.(1513-1515)cAt>cGt	p.H505R	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	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)|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)		AAGACGTGAATGTTGACTGAA	0.423																																																0													114	106	109					19																	52618903		2203	4300	6503	SO:0001583	missense	90317			AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"Zinc fingers, C2H2-type", "-"	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.1514A>G	chr19.hg19:g.52618903T>C	ENSP00000471000:p.His505Arg		B3KRV1|Q0P658|Q658V7	Missense_Mutation	SNP	ENST00000600228.1	hg19	CCDS33090.1	.	.	.	.	.	.	.	.	.	.	T	0.097	-1.157827	0.01686	.	.	ENSG00000204611	ENST00000330123	.	.	.	1.08	-1.23	0.09465	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08313	0.0207	N	0.00980	-1.08	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.37150	-0.9718	8	0.14252	T	0.57	.	6.2605	0.20897	0.0:0.5161:0.0:0.4839	.	505	Q08AN1	ZN616_HUMAN	R	505	.	ENSP00000328722:H505R	H	-	2	0	ZNF616	57310715	0.000000	0.05858	0.000000	0.03702	0.130000	0.20726	-4.154000	0.00284	-0.563000	0.06078	0.254000	0.18369	CAT		0.423	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	XM_030892		C	52618903	T	C	52618903	3	2	807	1	0	0	0	0	1	0	0	0	18046	1464	51	3	835	3	ZNF616	19	52618903	Missense_Mutation	SNP	T	TCGA-UZ-A9PU-01A-11D-A42J-10	2513787	52618903	6510080	59	48332											
ZNF256	10172	hgsc.bcm.edu	37	19	58452978	58452978	+	Frame_Shift_Del	DEL	G	G	-			TCGA-UZ-A9PU-01A-11D-A42J-10	TCGA-UZ-A9PU-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dc9ae4b-b140-4e01-9339-de952605d9eb	b843c2a5-db31-4152-b8d4-7ad08f849f7e	g.chr19:58452978delG	ENST00000282308.3	-	3	1394	c.1198delC	c.(1198-1200)cttfs	p.L400fs	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	400					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)		CCAATGTGAAGTCTCCGGTGT	0.428																																					NSCLC(55;1313 1552 8040 11996)											0													71	68	69					19																	58452978		2203	4300	6503	SO:0001589	frameshift_variant	10172			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.1198delC	chr19.hg19:g.58452978delG	ENSP00000282308:p.Leu400fs		B2RA92|Q53Y85|Q9BV71	Frame_Shift_Del	DEL	ENST00000282308.3	hg19	CCDS12966.1																																																																																				0.428	ZNF256-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466702.1			-	58452978	G	-	58452978	7	5	807	1	0	1	0	1	0	0	0	0	17804	1029	36	0	689	0	ZNF256	19	58452978	Frame_Shift_Del	DEL	G	TCGA-UZ-A9PU-01A-11D-A42J-10	5834075	58452978	676005	60	48333											
NPEPL1	79716	hgsc.bcm.edu	37	20	57268875	57268875	+	Frame_Shift_Del	DEL	C	C	-			TCGA-UZ-A9PU-01A-11D-A42J-10	TCGA-UZ-A9PU-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dc9ae4b-b140-4e01-9339-de952605d9eb	b843c2a5-db31-4152-b8d4-7ad08f849f7e	g.chr20:57268875delC	ENST00000356091.6	+	2	521	c.233delC	c.(232-234)gccfs	p.A78fs	NPEPL1_ENST00000525817.1_Frame_Shift_Del_p.A30fs|STX16-NPEPL1_ENST00000530122.1_3'UTR|NPEPL1_ENST00000525967.1_Frame_Shift_Del_p.A50fs	NM_024663.3	NP_078939.3	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	78						cytoplasm (GO:0005737)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			ACCGTGGCTGCCCTGCCCTGC	0.677																																																0													36	44	41					20																	57268875		2088	4197	6285	SO:0001589	frameshift_variant	79716			AK021645	CCDS46621.1, CCDS56200.1, CCDS56201.1	20q13.32	2008-07-02			ENSG00000215440	ENSG00000215440			16244	protein-coding gene	gene with protein product						14702039	Standard	NM_001204872		Approved	FLJ11583, bA261P9.2	uc010zzs.1	Q8NDH3	OTTHUMG00000033060	ENST00000356091.6:c.233delC	chr20.hg19:g.57268875delC	ENSP00000348395:p.Ala78fs		A6NGZ0|B4DMW7|B7ZBN0|E9PN47|G5EA34|Q53G37|Q5W083|Q8TF28|Q8WUI2|Q9H1T6|Q9HAI5	Frame_Shift_Del	DEL	ENST00000356091.6	hg19	CCDS46621.1																																																																																				0.677	NPEPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080402.6	NM_024663		-	57268875	C	-	57268875	7	5	807	1	0	1	0	1	0	0	0	0	10576	739	26	0	85	0	NPEPL1	20	57268875	Frame_Shift_Del	DEL	C	TCGA-UZ-A9PU-01A-11D-A42J-10		57268875	5756645	61	48334	523	4									
NPEPL1	79716	hgsc.bcm.edu	37	20	57268877	57268883	+	Frame_Shift_Del	DEL	CTGCCCT	CTGCCCT	-			TCGA-UZ-A9PU-01A-11D-A42J-10	TCGA-UZ-A9PU-10A-01D-A42M-10	CTGCCCT	CTGCCCT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dc9ae4b-b140-4e01-9339-de952605d9eb	b843c2a5-db31-4152-b8d4-7ad08f849f7e	g.chr20:57268877_57268883delCTGCCCT	ENST00000356091.6	+	2	523_529	c.235_241delCTGCCCT	c.(235-243)ctgccctgcfs	p.LPC79fs	NPEPL1_ENST00000525817.1_Frame_Shift_Del_p.LPC31fs|STX16-NPEPL1_ENST00000530122.1_3'UTR|NPEPL1_ENST00000525967.1_Frame_Shift_Del_p.LPC51fs	NM_024663.3	NP_078939.3	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	79						cytoplasm (GO:0005737)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			CGTGGCTGCCCTGCCCTGCAGGGTGAG	0.676																																																0																																										SO:0001589	frameshift_variant	79716			AK021645	CCDS46621.1, CCDS56200.1, CCDS56201.1	20q13.32	2008-07-02			ENSG00000215440	ENSG00000215440			16244	protein-coding gene	gene with protein product						14702039	Standard	NM_001204872		Approved	FLJ11583, bA261P9.2	uc010zzs.1	Q8NDH3	OTTHUMG00000033060	ENST00000356091.6:c.235_241delCTGCCCT	chr20.hg19:g.57268877_57268883delCTGCCCT	ENSP00000348395:p.Leu79fs		A6NGZ0|B4DMW7|B7ZBN0|E9PN47|G5EA34|Q53G37|Q5W083|Q8TF28|Q8WUI2|Q9H1T6|Q9HAI5	Frame_Shift_Del	DEL	ENST00000356091.6	hg19	CCDS46621.1																																																																																				0.676	NPEPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080402.6	NM_024663		-	57268883	CTGCCCT	-	57268877	7	5	807	1	0	1	0	1	0	0	0	0	10576	680	24	0	87	0	NPEPL1	20	57268877	Frame_Shift_Del	DEL	CTGCCCT	TCGA-UZ-A9PU-01A-11D-A42J-10	2	57268877	5756643	62	48335	523	4									
NPEPL1	79716	hgsc.bcm.edu	37	20	57268881	57268881	+	Missense_Mutation	SNP	C	C	G			TCGA-UZ-A9PU-01A-11D-A42J-10	TCGA-UZ-A9PU-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dc9ae4b-b140-4e01-9339-de952605d9eb	b843c2a5-db31-4152-b8d4-7ad08f849f7e	g.chr20:57268881C>G	ENST00000356091.6	+	2	527	c.239C>G	c.(238-240)cCc>cGc	p.P80R	NPEPL1_ENST00000525817.1_Missense_Mutation_p.P32R|STX16-NPEPL1_ENST00000530122.1_3'UTR|NPEPL1_ENST00000525967.1_Missense_Mutation_p.P52R	NM_024663.3	NP_078939.3	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	80						cytoplasm (GO:0005737)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			GCTGCCCTGCCCTGCAGGGTG	0.677																																																0													32	39	37					20																	57268881		2084	4196	6280	SO:0001583	missense	79716			AK021645	CCDS46621.1, CCDS56200.1, CCDS56201.1	20q13.32	2008-07-02			ENSG00000215440	ENSG00000215440			16244	protein-coding gene	gene with protein product						14702039	Standard	NM_001204872		Approved	FLJ11583, bA261P9.2	uc010zzs.1	Q8NDH3	OTTHUMG00000033060	ENST00000356091.6:c.239C>G	chr20.hg19:g.57268881C>G	ENSP00000348395:p.Pro80Arg		A6NGZ0|B4DMW7|B7ZBN0|E9PN47|G5EA34|Q53G37|Q5W083|Q8TF28|Q8WUI2|Q9H1T6|Q9HAI5	Missense_Mutation	SNP	ENST00000356091.6	hg19	CCDS46621.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.976448	0.92982	.	.	ENSG00000215440	ENST00000525967;ENST00000525817;ENST00000356091	T;T;T	0.39592	1.13;1.15;1.07	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.68044	0.2958	M	0.83384	2.64	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.984;0.993;0.984	T	0.74003	-0.3804	10	0.72032	D	0.01	-36.5305	17.2194	0.86953	0.0:1.0:0.0:0.0	.	80;32;52	Q8NDH3;G5EA34;E9PN47	PEPL1_HUMAN;.;.	R	52;32;80	ENSP00000434810:P52R;ENSP00000437112:P32R;ENSP00000348395:P80R	ENSP00000348395:P80R	P	+	2	0	NPEPL1	56702288	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	5.622000	0.67750	2.304000	0.77564	0.505000	0.49811	CCC		0.677	NPEPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080402.6	NM_024663		G	57268881	C	G	57268881	3	3	807	1	0	0	0	0	1	0	0	0	10576	623	22	4	91	4	NPEPL1	20	57268881	Missense_Mutation	SNP	C	TCGA-UZ-A9PU-01A-11D-A42J-10	4	57268881	5756639	63	48336	523	4									
NPEPL1	79716	hgsc.bcm.edu	37	20	57268883	57268883	+	Frame_Shift_Del	DEL	T	T	-			TCGA-UZ-A9PU-01A-11D-A42J-10	TCGA-UZ-A9PU-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dc9ae4b-b140-4e01-9339-de952605d9eb	b843c2a5-db31-4152-b8d4-7ad08f849f7e	g.chr20:57268883delT	ENST00000356091.6	+	2	529	c.241delT	c.(241-243)tgcfs	p.C81fs	NPEPL1_ENST00000525817.1_Frame_Shift_Del_p.C33fs|STX16-NPEPL1_ENST00000530122.1_3'UTR|NPEPL1_ENST00000525967.1_Frame_Shift_Del_p.C53fs	NM_024663.3	NP_078939.3	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	81						cytoplasm (GO:0005737)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			TGCCCTGCCCTGCAGGGTGAG	0.677																																																0													31	38	36					20																	57268883		2083	4195	6278	SO:0001589	frameshift_variant	79716			AK021645	CCDS46621.1, CCDS56200.1, CCDS56201.1	20q13.32	2008-07-02			ENSG00000215440	ENSG00000215440			16244	protein-coding gene	gene with protein product						14702039	Standard	NM_001204872		Approved	FLJ11583, bA261P9.2	uc010zzs.1	Q8NDH3	OTTHUMG00000033060	ENST00000356091.6:c.241delT	chr20.hg19:g.57268883delT	ENSP00000348395:p.Cys81fs		A6NGZ0|B4DMW7|B7ZBN0|E9PN47|G5EA34|Q53G37|Q5W083|Q8TF28|Q8WUI2|Q9H1T6|Q9HAI5	Frame_Shift_Del	DEL	ENST00000356091.6	hg19	CCDS46621.1																																																																																				0.677	NPEPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080402.6	NM_024663		-	57268883	T	-	57268883	7	5	807	1	0	1	0	1	0	0	0	0	10576	1580	55	0	93	0	NPEPL1	20	57268883	Frame_Shift_Del	DEL	T	TCGA-UZ-A9PU-01A-11D-A42J-10	2	57268883	5756637	64	48337	523	4									
POLR3H	171568	hgsc.bcm.edu	37	22	41926870	41926871	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-UZ-A9PU-01A-11D-A42J-10	TCGA-UZ-A9PU-10A-01D-A42M-10	CC	CC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3dc9ae4b-b140-4e01-9339-de952605d9eb	b843c2a5-db31-4152-b8d4-7ad08f849f7e	g.chr22:41926870_41926871delCC	ENST00000355209.4	-	5	724_725	c.381_382delGG	c.(379-384)tgggtgfs	p.WV127fs	POLR3H_ENST00000396504.2_Frame_Shift_Del_p.WV127fs|POLR3H_ENST00000337566.5_Frame_Shift_Del_p.WV98fs|POLR3H_ENST00000407461.1_Frame_Shift_Del_p.WV127fs|POLR3H_ENST00000420561.1_5'Flank	NM_001018050.2	NP_001018060.1	Q9Y535	RPC8_HUMAN	polymerase (RNA) III (DNA directed) polypeptide H (22.9kD)	127					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)			breast(1)|lung(5)|skin(1)|urinary_tract(1)	8						TACTCCCACACCCACACCTGCT	0.639																																																0																																										SO:0001589	frameshift_variant	171568			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.381_382delGG	chr22.hg19:g.41926870_41926871delCC	ENSP00000347345:p.Trp127fs		B0QYH9|Q5M7Y8|Q96AE3|Q9BY95	Frame_Shift_Del	DEL	ENST00000355209.4	hg19	CCDS14018.1																																																																																				0.639	POLR3H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320701.1	NM_138338		-	41926871	CC	-	41926870	7	5	807	1	0	1	0	1	0	0	0	0	12238	507	18	0	240	0	POLR3H	22	41926870	Frame_Shift_Del	DEL	CC	TCGA-UZ-A9PU-01A-11D-A42J-10		41926870	9377696	65	48338											
MRPL37	51253	hgsc.bcm.edu	37	1	54671037	54671037	+	Silent	SNP	G	G	A			TCGA-UZ-A9PV-01A-11D-A42J-10	TCGA-UZ-A9PV-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b0d2ed48-20a7-461b-a05b-356f5c192282	4c8c47c9-9ba8-4f00-a029-5d6e48a25489	g.chr1:54671037G>A	ENST00000360840.5	+	3	677	c.600G>A	c.(598-600)agG>agA	p.R200R	MRPL37_ENST00000336230.6_Intron|MRPL37_ENST00000487096.1_3'UTR|MRPL37_ENST00000605337.1_Silent_p.R200R	NM_016491.3	NP_057575.2	Q9BZE1	RM37_HUMAN	mitochondrial ribosomal protein L37	200					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						CTCTGGCCAGGAGGATCTGTG	0.458																																																0													153	140	144					1																	54671037		2203	4300	6503	SO:0001819	synonymous_variant	51253			AB051344	CCDS589.1	1p32.1	2012-09-13			ENSG00000116221	ENSG00000116221		"Mitochondrial ribosomal proteins / large subunits"	14034	protein-coding gene	gene with protein product		611843				10600119	Standard	NM_016491		Approved	RPML2, MRP-L2	uc001cxa.4	Q9BZE1	OTTHUMG00000008118	ENST00000360840.5:c.600G>A	chr1.hg19:g.54671037G>A			Q96Q67|Q9BWR1|Q9P0P3	Silent	SNP	ENST00000360840.5	hg19	CCDS589.1																																																																																				0.458	MRPL37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022224.1	NM_016491		A	54671037	G	A	54671037	2	1	808	1	0	0	0	0	0	0	0	1	9802	1165	41	2		2	MRPL37	1	54671037	Silent	SNP	G	TCGA-UZ-A9PV-01A-11D-A42J-10		54671037	194579584	1	48339											
ABCA4	24	hgsc.bcm.edu	37	1	94522185	94522185	+	Missense_Mutation	SNP	C	C	T	rs368457541		TCGA-UZ-A9PV-01A-11D-A42J-10	TCGA-UZ-A9PV-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b0d2ed48-20a7-461b-a05b-356f5c192282	4c8c47c9-9ba8-4f00-a029-5d6e48a25489	g.chr1:94522185C>T	ENST00000370225.3	-	15	2440	c.2354G>A	c.(2353-2355)cGc>cAc	p.R785H	ABCA4_ENST00000535735.1_Intron	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	785					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)		AGCGGTCATGCGGTCCTGCCA	0.597													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20408	0.0		0.0	False		,,,				2504	0.0															0								C	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	67	56	60		2354	2.3	0.5	1		60	0,8600		0,0,4300	no	missense	ABCA4	NM_000350.2	29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	785/2274	94522185	2,13004	2203	4300	6503	SO:0001583	missense	24			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.2354G>A	chr1.hg19:g.94522185C>T	ENSP00000359245:p.Arg785His		O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	hg19	CCDS747.1	.	.	.	.	.	.	.	.	.	.	C	7.992	0.753505	0.15778	4.54E-4	0.0	ENSG00000198691	ENST00000370225	T	0.74632	-0.86	5.36	2.35	0.29111	.	0.172435	0.52532	D	0.000069	T	0.53302	0.1788	M	0.67397	2.05	0.80722	D	1	B	0.11235	0.004	B	0.18561	0.022	T	0.49214	-0.8963	10	0.28530	T	0.3	.	9.4895	0.38951	0.0:0.7563:0.0:0.2437	.	785	P78363	ABCA4_HUMAN	H	785	ENSP00000359245:R785H	ENSP00000359245:R785H	R	-	2	0	ABCA4	94294773	0.028000	0.19301	0.521000	0.27850	0.176000	0.22953	0.407000	0.21049	0.301000	0.22738	-0.258000	0.10820	CGC		0.597	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		T	94522185	C	T	94522185	3	4	808	1	0	0	0	0	1	0	0	0	34	768	27	1	4611	1	ABCA4	1	94522185	Missense_Mutation	SNP	C	TCGA-UZ-A9PV-01A-11D-A42J-10	39851148	94522185	154728436	2	48340											
DPH5	51611	hgsc.bcm.edu	37	1	101456156	101456156	+	Silent	SNP	T	T	C			TCGA-UZ-A9PV-01A-11D-A42J-10	TCGA-UZ-A9PV-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b0d2ed48-20a7-461b-a05b-356f5c192282	4c8c47c9-9ba8-4f00-a029-5d6e48a25489	g.chr1:101456156T>C	ENST00000370109.3	-	8	778	c.666A>G	c.(664-666)ttA>ttG	p.L222L	DPH5_ENST00000488176.1_Silent_p.L222L|DPH5_ENST00000370105.3_5'UTR|DPH5_ENST00000342173.7_Silent_p.L221L|AC093157.1_ENST00000593496.1_Silent_p.A50A|DPH5_ENST00000427040.2_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	222					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)		CAACCCTGGCTAAGCCAACAC	0.433																																																0													82	80	81					1																	101456156		1943	4135	6078	SO:0001819	synonymous_variant	51611			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.666A>G	chr1.hg19:g.101456156T>C			A8JZY6|D3DT62|Q9P017|Q9P0I4|Q9Y319	Silent	SNP	ENST00000370109.3	hg19	CCDS41358.1																																																																																				0.433	DPH5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000029881.1	NM_015958		C	101456156	T	C	101456156	2	2	808	1	0	0	0	0	0	0	0	1	4725	1519	53	3		3	DPH5	1	101456156	Silent	SNP	T	TCGA-UZ-A9PV-01A-11D-A42J-10	6933971	101456156	147794465	3	48341											
ALX3	257	hgsc.bcm.edu	37	1	110603552	110603552	+	Missense_Mutation	SNP	C	C	A			TCGA-UZ-A9PV-01A-11D-A42J-10	TCGA-UZ-A9PV-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b0d2ed48-20a7-461b-a05b-356f5c192282	4c8c47c9-9ba8-4f00-a029-5d6e48a25489	g.chr1:110603552C>A	ENST00000369792.4	-	4	922	c.835G>T	c.(835-837)Ggg>Tgg	p.G279W	RP4-773N10.4_ENST00000596959.1_RNA|RP4-773N10.4_ENST00000554749.1_RNA	NM_006492.2	NP_006483.2	O95076	ALX3_HUMAN	ALX homeobox 3	279					embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal system morphogenesis (GO:0048704)|pattern specification process (GO:0007389)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)		GCCACACTCCCATGGGGGTGG	0.652																																																0													15	19	18					1																	110603552		2200	4297	6497	SO:0001583	missense	257			AF008203	CCDS819.1	1p13.3	2014-02-04	2008-11-04		ENSG00000156150	ENSG00000156150		"Homeoboxes / PRD class"	449	protein-coding gene	gene with protein product		606014	"aristaless-like homeobox 3", "frontonasal dysplasia"	FND		15226305, 11807986, 19409524	Standard	NM_006492		Approved		uc001dzb.3	O95076	OTTHUMG00000011650	ENST00000369792.4:c.835G>T	chr1.hg19:g.110603552C>A	ENSP00000358807:p.Gly279Trp		O95075|Q5T8M4	Missense_Mutation	SNP	ENST00000369792.4	hg19	CCDS819.1	.	.	.	.	.	.	.	.	.	.	C	11.93	1.784499	0.31593	.	.	ENSG00000156150	ENST00000369792	D	0.92752	-3.1	5.51	3.3	0.37823	.	0.149286	0.43747	D	0.000537	D	0.91872	0.7427	M	0.71581	2.175	0.43199	D	0.995046	D	0.69078	0.997	P	0.61328	0.887	D	0.91501	0.5219	10	0.59425	D	0.04	.	6.8466	0.23992	0.0:0.666:0.0:0.334	.	279	O95076	ALX3_HUMAN	W	279	ENSP00000358807:G279W	ENSP00000358807:G279W	G	-	1	0	ALX3	110405075	0.482000	0.25948	0.212000	0.23672	0.147000	0.21601	0.852000	0.27764	1.340000	0.45581	0.655000	0.94253	GGG		0.652	ALX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032232.2	NM_006492		A	110603552	C	A	110603552	3	1	808	1	0	0	0	0	1	0	0	0	557	594	21	4	200	4	ALX3	1	110603552	Missense_Mutation	SNP	C	TCGA-UZ-A9PV-01A-11D-A42J-10	9147396	110603552	138647069	4	48342											
RAB7L1	8934	hgsc.bcm.edu	37	1	205739969	205739969	+	Missense_Mutation	SNP	G	G	T			TCGA-UZ-A9PV-01A-11D-A42J-10	TCGA-UZ-A9PV-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b0d2ed48-20a7-461b-a05b-356f5c192282	4c8c47c9-9ba8-4f00-a029-5d6e48a25489	g.chr1:205739969G>T	ENST00000367139.3	-	5	695	c.392C>A	c.(391-393)cCt>cAt	p.P131H	RAB7L1_ENST00000468887.1_5'UTR|RAB7L1_ENST00000437324.2_Missense_Mutation_p.P59H|RAB7L1_ENST00000414729.1_Missense_Mutation_p.P131H|RAB7L1_ENST00000446390.2_Missense_Mutation_p.P107H|RAB7L1_ENST00000235932.4_Missense_Mutation_p.P131H	NM_003929.2	NP_003920.1	O14966	RAB7L_HUMAN		131					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)			CACTGCCCAAGGGGACAGATC	0.403																																					Pancreas(25;658 872 27763 34889 38531)											0													84	76	79					1																	205739969		2203	4300	6503	SO:0001583	missense	8934																														ENST00000367139.3:c.392C>A	chr1.hg19:g.205739969G>T	ENSP00000356107:p.Pro131His		B4E1K3|C9JE77	Missense_Mutation	SNP	ENST00000367139.3	hg19	CCDS1459.1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.940484	0.52972	.	.	ENSG00000117280	ENST00000367139;ENST00000235932;ENST00000437324;ENST00000446390;ENST00000414729	T;T;T;T;T	0.79653	-1.29;-1.29;-0.42;-1.29;-1.29	5.27	5.27	0.74061	Small GTP-binding protein domain (1);	0.121659	0.56097	D	0.000026	T	0.69602	0.3129	N	0.04820	-0.15	0.39116	D	0.96156	B;B	0.29378	0.243;0.24	B;B	0.36464	0.092;0.225	T	0.73908	-0.3834	10	0.87932	D	0	-7.8433	17.0021	0.86384	0.0:0.0:1.0:0.0	.	107;131	B4E1K3;O14966	.;RAB7L_HUMAN	H	131;131;59;107;131	ENSP00000356107:P131H;ENSP00000235932:P131H;ENSP00000416613:P59H;ENSP00000389899:P107H;ENSP00000402910:P131H	ENSP00000235932:P131H	P	-	2	0	RAB7L1	204006592	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.213000	0.65230	2.619000	0.88677	0.561000	0.74099	CCT		0.403	RAB7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087732.1			T	205739969	G	T	205739969	3	4	808	1	0	0	0	0	1	0	0	0	12961	1000	35	4	227	4	RAB7L1	1	205739969	Missense_Mutation	SNP	G	TCGA-UZ-A9PV-01A-11D-A42J-10	95136417	205739969	43510652	5	48343											
OR2T33	391195	hgsc.bcm.edu	37	1	248436732	248436732	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UZ-A9PV-01A-11D-A42J-10	TCGA-UZ-A9PV-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b0d2ed48-20a7-461b-a05b-356f5c192282	4c8c47c9-9ba8-4f00-a029-5d6e48a25489	g.chr1:248436732G>A	ENST00000318021.2	-	1	406	c.385C>T	c.(385-387)Cga>Tga	p.R129*		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	129						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)			GTGGGATATCGGAGTGGGTGG	0.592																																																0													60	61	60					1																	248436732		2197	4289	6486	SO:0001587	stop_gained	391195				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.385C>T	chr1.hg19:g.248436732G>A	ENSP00000324687:p.Arg129*		B2RNN0	Nonsense_Mutation	SNP	ENST00000318021.2	hg19	CCDS31109.1	.	.	.	.	.	.	.	.	.	.	-	9.949	1.219752	0.22373	.	.	ENSG00000177212	ENST00000318021	.	.	.	2.7	0.405	0.16361	.	0.000000	0.30126	U	0.010346	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.3142	0.43727	0.0:0.0:0.6163:0.3837	.	.	.	.	X	129	.	ENSP00000324687:R129X	R	-	1	2	OR2T33	246503355	0.005000	0.15991	0.021000	0.16686	0.001000	0.01503	0.673000	0.25203	-0.062000	0.13088	-0.599000	0.04106	CGA		0.592	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695		A	248436732	G	A	248436732	4	1	808	1	0	0	0	0	0	1	0	0	11026	1124	39	1	580	1	OR2T33	1	248436732	Nonsense_Mutation	SNP	G	TCGA-UZ-A9PV-01A-11D-A42J-10	42696763	248436732	813889	6	48344											
SCN9A	6335	hgsc.bcm.edu	37	2	167055908	167055908	+	Silent	SNP	G	G	T			TCGA-UZ-A9PV-01A-11D-A42J-10	TCGA-UZ-A9PV-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b0d2ed48-20a7-461b-a05b-356f5c192282	4c8c47c9-9ba8-4f00-a029-5d6e48a25489	g.chr2:167055908G>T	ENST00000409435.1	-	26	5240	c.5241C>A	c.(5239-5241)tcC>tcA	p.S1747S	SCN9A_ENST00000375387.4_Silent_p.S1748S|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Silent_p.S1736S|SCN9A_ENST00000303354.6_Silent_p.S1748S			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1747					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CAACCAGGAAGGATATGATGA	0.398																																																0													187	198	194					2																	167055908		2203	4300	6503	SO:0001819	synonymous_variant	6335			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.5241C>A	chr2.hg19:g.167055908G>T			A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Silent	SNP	ENST00000409435.1	hg19	CCDS46441.1																																																																																				0.398	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		T	167055908	G	T	167055908	2	4	808	1	0	0	0	0	0	0	0	1	13931	987	35	4		4	SCN9A	2	167055908	Silent	SNP	G	TCGA-UZ-A9PV-01A-11D-A42J-10		167055908	76143465	7	48345											
VILL	50853	hgsc.bcm.edu	37	3	38043001	38043001	+	Missense_Mutation	SNP	C	C	G			TCGA-UZ-A9PV-01A-11D-A42J-10	TCGA-UZ-A9PV-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b0d2ed48-20a7-461b-a05b-356f5c192282	4c8c47c9-9ba8-4f00-a029-5d6e48a25489	g.chr3:38043001C>G	ENST00000283713.6	+	12	1503	c.1237C>G	c.(1237-1239)Cag>Gag	p.Q413E	VILL_ENST00000465644.1_Missense_Mutation_p.Q131E|VILL_ENST00000383759.2_Missense_Mutation_p.Q413E			O15195	VILL_HUMAN	villin-like	413					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)		GCGTCATGGACAGCTGTGTGC	0.587																																																0													116	101	106					3																	38043001		2203	4300	6503	SO:0001583	missense	50853				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.1237C>G	chr3.hg19:g.38043001C>G	ENSP00000283713:p.Gln413Glu		A8MZP1|Q9BT80|Q9BWH7	Missense_Mutation	SNP	ENST00000283713.6	hg19	CCDS2670.2	.	.	.	.	.	.	.	.	.	.	C	11.51	1.660433	0.29515	.	.	ENSG00000136059	ENST00000283713;ENST00000383759;ENST00000356246;ENST00000465644	T;T;T	0.55234	0.53;0.53;0.53	4.04	3.16	0.36331	Gelsolin domain (1);	0.108661	0.64402	D	0.000004	T	0.61961	0.2389	M	0.75150	2.29	0.37472	D	0.915635	P;P	0.41569	0.712;0.755	B;P	0.51945	0.373;0.685	T	0.64330	-0.6433	10	0.30078	T	0.28	-6.8034	10.8824	0.46946	0.0:0.9052:0.0:0.0948	.	399;413	O15195-2;O15195	.;VILL_HUMAN	E	413;413;399;131	ENSP00000283713:Q413E;ENSP00000373266:Q413E;ENSP00000422096:Q131E	ENSP00000283713:Q413E	Q	+	1	0	VILL	38018005	0.801000	0.28930	0.007000	0.13788	0.022000	0.10575	1.593000	0.36686	1.054000	0.40438	0.455000	0.32223	CAG		0.587	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253360.3	NM_015873		G	38043001	C	G	38043001	3	3	808	1	0	0	0	0	1	0	0	0	17170	479	17	4	1279	4	VILL	3	38043001	Missense_Mutation	SNP	C	TCGA-UZ-A9PV-01A-11D-A42J-10		38043001	159979429	8	48346											
ZPLD1	131368	hgsc.bcm.edu	37	3	102187928	102187929	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-UZ-A9PV-01A-11D-A42J-10	TCGA-UZ-A9PV-10A-01D-A42M-10	GC	GC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b0d2ed48-20a7-461b-a05b-356f5c192282	4c8c47c9-9ba8-4f00-a029-5d6e48a25489	g.chr3:102187928_102187929delGC	ENST00000491959.1	+	15	1764_1765	c.882_883delGC	c.(880-885)ttgcacfs	p.H295fs	ZPLD1_ENST00000306176.1_Frame_Shift_Del_p.H311fs|ZPLD1_ENST00000466937.1_Frame_Shift_Del_p.H295fs			Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	295	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						CTGTCTTCTTGCACTGCGTTAC	0.45																																																0																																										SO:0001589	frameshift_variant	131368			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.882_883delGC	chr3.hg19:g.102187928_102187929delGC	ENSP00000420265:p.His295fs		Q49AS1|Q8WU36	Frame_Shift_Del	DEL	ENST00000491959.1	hg19																																																																																					0.45	ZPLD1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353984.1	NM_175056		-	102187929	GC	-	102187928	7	5	808	1	0	1	0	1	0	0	0	0	18226	1310	46	0	960	0	ZPLD1	3	102187928	Frame_Shift_Del	DEL	GC	TCGA-UZ-A9PV-01A-11D-A42J-10	64144927	102187928	95834502	9	48347											
ASTE1	28990	hgsc.bcm.edu	37	3	130743519	130743519	+	Missense_Mutation	SNP	T	T	A			TCGA-UZ-A9PV-01A-11D-A42J-10	TCGA-UZ-A9PV-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b0d2ed48-20a7-461b-a05b-356f5c192282	4c8c47c9-9ba8-4f00-a029-5d6e48a25489	g.chr3:130743519T>A	ENST00000264992.3	-	3	1073	c.632A>T	c.(631-633)aAt>aTt	p.N211I	NEK11_ENST00000356918.4_5'Flank|ASTE1_ENST00000514044.1_Missense_Mutation_p.N211I|NEK11_ENST00000510769.1_5'Flank|NEK11_ENST00000412440.2_5'Flank|NEK11_ENST00000429253.2_5'Flank|NEK11_ENST00000510688.1_5'Flank|NEK11_ENST00000511262.1_5'Flank|NEK11_ENST00000383366.4_5'Flank	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	211					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						TAGAGCTTTATTCATATTGCT	0.408																																																0													105	99	101					3																	130743519		2203	4300	6503	SO:0001583	missense	28990			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.632A>T	chr3.hg19:g.130743519T>A	ENSP00000264992:p.Asn211Ile		B4DFL9|Q3MIB6|Q8N6G4|Q96JY1|Q9UHX6	Missense_Mutation	SNP	ENST00000264992.3	hg19	CCDS3068.1	.	.	.	.	.	.	.	.	.	.	T	18.11	3.551442	0.65311	.	.	ENSG00000034533	ENST00000514044;ENST00000264992;ENST00000446270	.	.	.	5.54	4.38	0.52667	.	0.081556	0.85682	D	0.000000	T	0.71728	0.3374	M	0.71581	2.175	0.41819	D	0.990011	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.73040	-0.4108	9	0.66056	D	0.02	-14.7581	9.4519	0.38731	0.0:0.1477:0.0:0.8523	.	211;211	D6RG30;Q2TB18	.;ASTE1_HUMAN	I	211	.	ENSP00000264992:N211I	N	-	2	0	ASTE1	132226209	0.937000	0.31787	0.570000	0.28473	0.980000	0.70556	1.749000	0.38319	0.933000	0.37291	0.459000	0.35465	AAT		0.408	ASTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356659.1	NM_014065		A	130743519	T	A	130743519	3	1	808	1	0	0	0	0	1	0	0	0	1062	1493	52	5	1423	5	ASTE1	3	130743519	Missense_Mutation	SNP	T	TCGA-UZ-A9PV-01A-11D-A42J-10	28555591	130743519	67278911	10	48348											
WWTR1	25937	hgsc.bcm.edu	37	3	149243902	149243902	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9PV-01A-11D-A42J-10	TCGA-UZ-A9PV-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b0d2ed48-20a7-461b-a05b-356f5c192282	4c8c47c9-9ba8-4f00-a029-5d6e48a25489	g.chr3:149243902G>A	ENST00000465804.1	-	7	1172	c.916C>T	c.(916-918)Cat>Tat	p.H306Y	RNU6-1098P_ENST00000516772.1_RNA|WWTR1_ENST00000467467.1_Missense_Mutation_p.H306Y|WWTR1_ENST00000360632.3_Missense_Mutation_p.H306Y	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	306					cilium morphogenesis (GO:0060271)|gene expression (GO:0010467)|glomerulus development (GO:0032835)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of SMAD protein import into nucleus (GO:0060390)|regulation of transcription, DNA-templated (GO:0006355)|stem cell division (GO:0017145)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TCCCTCGAATGATATGGCCCT	0.458			T	CAMTA1	epitheliod hemangioendothelioma																																		Dom	yes		3	3q23-q24	607392	WW domain containing transcription regulator 1		M	0													102	92	95					3																	149243902		2203	4300	6503	SO:0001583	missense	25937			AK022036	CCDS3144.1	3q23-q24	2004-12-03			ENSG00000018408	ENSG00000018408			24042	protein-coding gene	gene with protein product		607392				11118213, 15096513	Standard	NM_015472		Approved	TAZ, DKFZp586I1419	uc021xfm.1	Q9GZV5	OTTHUMG00000159614	ENST00000465804.1:c.916C>T	chr3.hg19:g.149243902G>A	ENSP00000419465:p.His306Tyr		D3DNH7|Q8N3P2|Q9Y3W6	Missense_Mutation	SNP	ENST00000465804.1	hg19	CCDS3144.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.649621	0.87958	.	.	ENSG00000018408	ENST00000465804;ENST00000360632;ENST00000467467;ENST00000472417	D;D;D	0.82619	-1.63;-1.63;-1.63	5.71	5.71	0.89125	.	0.103999	0.64402	D	0.000004	D	0.85665	0.5749	M	0.81497	2.545	0.80722	D	1	P	0.46621	0.881	B	0.41332	0.354	D	0.88133	0.2839	10	0.87932	D	0	-29.8014	19.846	0.96707	0.0:0.0:1.0:0.0	.	306	Q9GZV5	WWTR1_HUMAN	Y	306;306;306;164	ENSP00000419465:H306Y;ENSP00000353847:H306Y;ENSP00000419234:H306Y	ENSP00000353847:H306Y	H	-	1	0	WWTR1	150726592	1.000000	0.71417	0.615000	0.29064	0.887000	0.51463	9.467000	0.97671	2.683000	0.91414	0.563000	0.77884	CAT		0.458	WWTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356498.1	NM_015472		A	149243902	G	A	149243902	3	1	808	1	0	0	0	0	1	0	0	0	17422	1290	45	2	294	2	WWTR1	3	149243902	Missense_Mutation	SNP	G	TCGA-UZ-A9PV-01A-11D-A42J-10	18500383	149243902	48778528	11	48349											
ZNF639	51193	hgsc.bcm.edu	37	3	179051889	179051926	+	Frame_Shift_Del	DEL	TGGTTTTCGGAGTAGACTTCACACAAATGTTAACAGGC	TGGTTTTCGGAGTAGACTTCACACAAATGTTAACAGGC	-	rs61741048	byFrequency	TCGA-UZ-A9PV-01A-11D-A42J-10	TCGA-UZ-A9PV-10A-01D-A42M-10	TGGTTTTCGGAGTAGACTTCACACAAATGTTAACAGGC	TGGTTTTCGGAGTAGACTTCACACAAATGTTAACAGGC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b0d2ed48-20a7-461b-a05b-356f5c192282	4c8c47c9-9ba8-4f00-a029-5d6e48a25489	g.chr3:179051889_179051926delTGGTTTTCGGAGTAGACTTCACACAAATGTTAACAGGC	ENST00000326361.3	+	7	1582_1619	c.1137_1174delTGGTTTTCGGAGTAGACTTCACACAAATGTTAACAGGC	c.(1135-1176)tgtggttttcggagtagacttcacacaaatgttaacaggcatfs	p.CGFRSRLHTNVNRH379fs	ZNF639_ENST00000484866.1_Frame_Shift_Del_p.CGFRSRLHTNVNRH379fs|ZNF639_ENST00000496856.1_Frame_Shift_Del_p.CGFRSRLHTNVNRH379fs	NM_016331.1	NP_057415.1	Q9UID6	ZN639_HUMAN	zinc finger protein 639	379	Interaction with CTNNA2.				negative regulation by host of viral transcription (GO:0043922)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|transcription, DNA-templated (GO:0006351)|viral entry into host cell (GO:0046718)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein self-association (GO:0043621)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1)	16	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			GTCAAGTATGTGGTTTTCGGAGTAGACTTCACACAAATGTTAACAGGCATGTTGCTAT	0.332																																																0																																										SO:0001589	frameshift_variant	51193			BC020500	CCDS3227.1	3q27.1	2010-03-26			ENSG00000121864	ENSG00000121864		"Zinc fingers, C2H2-type"	30950	protein-coding gene	gene with protein product	"zinc finger amplified in esophageal squamous cell carcinomas 1"					14522885	Standard	NM_016331		Approved	ANC-2H01, ZASC1	uc003fjr.1	Q9UID6	OTTHUMG00000157439	ENST00000326361.3:c.1137_1174delTGGTTTTCGGAGTAGACTTCACACAAATGTTAACAGGC	chr3.hg19:g.179051889_179051926delTGGTTTTCGGAGTAGACTTCACACAAATGTTAACAGGC	ENSP00000325634:p.Cys379fs		A9X3Z9|D3DNR3	Frame_Shift_Del	DEL	ENST00000326361.3	hg19	CCDS3227.1																																																																																				0.332	ZNF639-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348855.1	NM_016331		-	179051926	TGGTTTTCGGAGTAGACTTCACACAAATGTTAACAGGC	-	179051889	7	5	808	1	0	1	0	1	0	0	0	0	18061	1702	59	0	1151	0	ZNF639	3	179051889	Frame_Shift_Del	DEL	TGGTTTTCGGAGTAGACTTCACACAAATGTTAACAGGC	TCGA-UZ-A9PV-01A-11D-A42J-10	29807987	179051889	18970541	12	48350											
MRFAP1	93621	hgsc.bcm.edu	37	4	6642705	6642705	+	Missense_Mutation	SNP	T	T	C			TCGA-UZ-A9PV-01A-11D-A42J-10	TCGA-UZ-A9PV-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b0d2ed48-20a7-461b-a05b-356f5c192282	4c8c47c9-9ba8-4f00-a029-5d6e48a25489	g.chr4:6642705T>C	ENST00000320912.4	+	2	769	c.116T>C	c.(115-117)aTc>aCc	p.I39T	MRFAP1_ENST00000382581.4_Missense_Mutation_p.I39T|MRFAP1_ENST00000507420.1_Missense_Mutation_p.I39T	NM_001272053.1	NP_001258982.1			Morf4 family associated protein 1											lung(1)	1						CGCGAGGACATCGCGTCGCTG	0.617																																																0													76	75	75					4																	6642705		2203	4300	6503	SO:0001583	missense	93621			AF116272	CCDS3389.1	4p16.1	2011-01-27	2011-01-27		ENSG00000179010	ENSG00000179010			24549	protein-coding gene	gene with protein product						15367658	Standard	NM_033296		Approved	PAM14, PGR1	uc003gjh.2	Q9Y605	OTTHUMG00000125504	ENST00000320912.4:c.116T>C	chr4.hg19:g.6642705T>C	ENSP00000318352:p.Ile39Thr			Missense_Mutation	SNP	ENST00000320912.4	hg19	CCDS3389.1	.	.	.	.	.	.	.	.	.	.	T	19.09	3.759842	0.69763	.	.	ENSG00000179010	ENST00000320912;ENST00000507420;ENST00000382581	.	.	.	3.35	3.35	0.38373	.	0.000000	0.33040	N	0.005353	T	0.28366	0.0701	N	0.24115	0.695	0.23010	N	0.998433	B	0.30889	0.299	B	0.33121	0.158	T	0.26018	-1.0115	9	0.72032	D	0.01	-23.1149	8.4138	0.32659	0.0:0.0:0.0:1.0	.	39	Q9Y605	MOFA1_HUMAN	T	39	.	ENSP00000318352:I39T	I	+	2	0	MRFAP1	6693606	1.000000	0.71417	0.533000	0.28001	0.966000	0.64601	1.122000	0.31295	1.771000	0.52183	0.459000	0.35465	ATC		0.617	MRFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246831.1	NM_033296		C	6642705	T	C	6642705	3	2	808	1	0	0	0	0	1	0	0	0	9763	1435	50	3	118	3	MRFAP1	4	6642705	Missense_Mutation	SNP	T	TCGA-UZ-A9PV-01A-11D-A42J-10		6642705	184511571	13	48351											
SLC4A4	8671	hgsc.bcm.edu	37	4	72215763	72215763	+	Missense_Mutation	SNP	A	A	T			TCGA-UZ-A9PV-01A-11D-A42J-10	TCGA-UZ-A9PV-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b0d2ed48-20a7-461b-a05b-356f5c192282	4c8c47c9-9ba8-4f00-a029-5d6e48a25489	g.chr4:72215763A>T	ENST00000264485.5	+	5	641	c.524A>T	c.(523-525)gAg>gTg	p.E175V	SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000340595.3_Missense_Mutation_p.E131V|SLC4A4_ENST00000425175.1_Missense_Mutation_p.E175V|SLC4A4_ENST00000512686.1_Missense_Mutation_p.E131V|SLC4A4_ENST00000351898.6_Missense_Mutation_p.E175V	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	175					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	CTTGATCGGGAGGCTTCTTCT	0.463																																																0													180	166	171					4																	72215763		2203	4300	6503	SO:0001583	missense	8671			AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"Solute carriers"	11030	protein-coding gene	gene with protein product		603345	"solute carrier family 4, sodium bicarbonate cotransporter, member 4"	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.524A>T	chr4.hg19:g.72215763A>T	ENSP00000264485:p.Glu175Val		C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	ENST00000264485.5	hg19	CCDS43236.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.716296	0.89205	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898;ENST00000512686;ENST00000340595	T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;-1.45	5.64	5.64	0.86602	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.000000	0.85682	D	0.000000	D	0.90024	0.6885	M	0.85710	2.77	0.80722	D	1	P;D;D;D;P;D	0.65815	0.956;0.995;0.974;0.995;0.956;0.979	P;D;P;D;P;P	0.66847	0.864;0.923;0.848;0.947;0.864;0.901	D	0.90840	0.4723	10	0.51188	T	0.08	.	15.8582	0.79000	1.0:0.0:0.0:0.0	.	175;175;131;131;155;175	A5JJ20;Q9Y6R1-4;Q9Y6R1-2;Q9Y6R1-3;Q9Y6R3;Q9Y6R1	.;.;.;.;.;S4A4_HUMAN	V	175;175;175;131;131	ENSP00000264485:E175V;ENSP00000393557:E175V;ENSP00000307349:E175V;ENSP00000422400:E131V;ENSP00000344272:E131V	ENSP00000264485:E175V	E	+	2	0	SLC4A4	72434627	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.307000	0.96226	2.136000	0.66102	0.455000	0.32223	GAG		0.463	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		T	72215763	A	T	72215763	3	4	808	1	0	0	0	0	1	0	0	0	14662	304	11	5	659	5	SLC4A4	4	72215763	Missense_Mutation	SNP	A	TCGA-UZ-A9PV-01A-11D-A42J-10	65573058	72215763	118938513	14	48352											
AGPAT9	84803	hgsc.bcm.edu	37	4	84516012	84516012	+	Silent	SNP	T	T	C			TCGA-UZ-A9PV-01A-11D-A42J-10	TCGA-UZ-A9PV-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b0d2ed48-20a7-461b-a05b-356f5c192282	4c8c47c9-9ba8-4f00-a029-5d6e48a25489	g.chr4:84516012T>C	ENST00000395226.2	+	8	971	c.753T>C	c.(751-753)caT>caC	p.H251H	AGPAT9_ENST00000264409.4_Silent_p.H251H	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	251					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)				GCCAGGTTCATGGCGGCTTGA	0.413																																																0													162	165	164					4																	84516012		2203	4300	6503	SO:0001819	synonymous_variant	84803			AK055749	CCDS3606.1	4q21.23	2014-02-13	2008-01-29		ENSG00000138678	ENSG00000138678	2.3.1.15	"1-acylglycerol-3-phosphate O-acyltransferases"	28157	protein-coding gene	gene with protein product	"lysophosphatidic acid acyltransferase, theta"	610958	"1-acylglycerol-3-phosphate O-acyltransferase 9 (lysophosphatidic acid acyltransferase, theta)"			12975309	Standard	NM_001256421		Approved	MGC11324, LPAAT-theta, MAG1, HMFN0839	uc003how.4	Q53EU6	OTTHUMG00000130431	ENST00000395226.2:c.753T>C	chr4.hg19:g.84516012T>C			Q68CJ4|Q6GPI6|Q96NA3	Silent	SNP	ENST00000395226.2	hg19	CCDS3606.1																																																																																				0.413	AGPAT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252821.3	NM_032717		C	84516012	T	C	84516012	2	2	808	1	0	0	0	0	0	0	0	1	392	1461	51	3		3	AGPAT9	4	84516012	Silent	SNP	T	TCGA-UZ-A9PV-01A-11D-A42J-10	12300249	84516012	106638264	15	48353											
CLCN3	1182	hgsc.bcm.edu	37	4	170610219	170610219	+	Silent	SNP	T	T	A			TCGA-UZ-A9PV-01A-11D-A42J-10	TCGA-UZ-A9PV-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b0d2ed48-20a7-461b-a05b-356f5c192282	4c8c47c9-9ba8-4f00-a029-5d6e48a25489	g.chr4:170610219T>A	ENST00000513761.1	+	5	1003	c.444T>A	c.(442-444)atT>atA	p.I148I	CLCN3_ENST00000504131.2_Silent_p.I131I|CLCN3_ENST00000347613.4_Silent_p.I148I|CLCN3_ENST00000360642.3_Silent_p.I148I	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	148					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)		TAATAGACATTGCTGCCGATT	0.418																																																0													155	152	153					4																	170610219		2203	4300	6503	SO:0001819	synonymous_variant	1182			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.444T>A	chr4.hg19:g.170610219T>A			B7Z932|B9EGJ9|D3DP34|E9PB97|O14918|Q86Z21	Silent	SNP	ENST00000513761.1	hg19	CCDS34101.1																																																																																				0.418	CLCN3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363210.2			A	170610219	T	A	170610219	2	1	808	1	0	0	0	0	0	0	0	1	3466	1800	63	5		5	CLCN3	4	170610219	Silent	SNP	T	TCGA-UZ-A9PV-01A-11D-A42J-10	86094207	170610219	20544057	16	48354											
MED10	84246	hgsc.bcm.edu	37	5	6372638	6372638	+	Missense_Mutation	SNP	C	C	A	rs145638352		TCGA-UZ-A9PV-01A-11D-A42J-10	TCGA-UZ-A9PV-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b0d2ed48-20a7-461b-a05b-356f5c192282	4c8c47c9-9ba8-4f00-a029-5d6e48a25489	g.chr5:6372638C>A	ENST00000255764.3	-	4	496	c.386G>T	c.(385-387)gGg>gTg	p.G129V		NM_032286.2	NP_115662.2	Q9BTT4	MED10_HUMAN	mediator complex subunit 10	129					gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	RNA polymerase II transcription cofactor activity (GO:0001104)			kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|urinary_tract(1)	5						GTGATCCTCCCCCCGGATGCT	0.493																																																0								C	VAL/GLY	2,4404	4.2+/-10.8	0,2,2201	114	114	114		386	6	1	5	dbSNP_134	114	0,8600		0,0,4300	no	missense	MED10	NM_032286.2	109	0,2,6501	AA,AC,CC		0.0,0.0454,0.0154	probably-damaging	129/136	6372638	2,13004	2203	4300	6503	SO:0001583	missense	84246				CCDS34134.1	5p15.31	2008-02-05	2007-07-30		ENSG00000133398	ENSG00000133398			28760	protein-coding gene	gene with protein product	"NUT2 homolog (S. cerevisiae)"	612382	"mediator of RNA polymerase II transcription, subunit 10 homolog (NUT2, S. cerevisiae)"			15657623, 15175163	Standard	NM_032286		Approved	TRG20, L6, MGC5309, NUT2	uc003jdo.3	Q9BTT4	OTTHUMG00000161682	ENST00000255764.3:c.386G>T	chr5.hg19:g.6372638C>A	ENSP00000255764:p.Gly129Val		C6G491	Missense_Mutation	SNP	ENST00000255764.3	hg19	CCDS34134.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.560514	0.86335	4.54E-4	0.0	ENSG00000133398	ENST00000255764	.	.	.	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.76786	0.4036	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.74797	-0.3543	9	0.49607	T	0.09	-30.6001	19.4269	0.94746	0.0:1.0:0.0:0.0	.	129	Q9BTT4	MED10_HUMAN	V	129	.	ENSP00000255764:G129V	G	-	2	0	MED10	6425638	1.000000	0.71417	0.996000	0.52242	0.655000	0.38815	4.489000	0.60309	2.836000	0.97738	0.655000	0.94253	GGG		0.493	MED10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365714.1	NM_032286		A	6372638	C	A	6372638	3	1	808	1	0	0	0	0	1	0	0	0	9428	623	22	4	25	4	MED10	5	6372638	Missense_Mutation	SNP	C	TCGA-UZ-A9PV-01A-11D-A42J-10		6372638	174542622	17	48355											
FAM105A	54491	hgsc.bcm.edu	37	5	14608915	14608915	+	Missense_Mutation	SNP	T	T	C			TCGA-UZ-A9PV-01A-11D-A42J-10	TCGA-UZ-A9PV-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b0d2ed48-20a7-461b-a05b-356f5c192282	4c8c47c9-9ba8-4f00-a029-5d6e48a25489	g.chr5:14608915T>C	ENST00000274217.3	+	7	806	c.686T>C	c.(685-687)cTt>cCt	p.L229P		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A	229	OTU.							p.S231fs*13(1)		large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					TGCAACACCCTTTTTTCAGAT	0.328																																																1	Deletion - Frameshift(1)	large_intestine(1)											77	77	77					5																	14608915		2203	4300	6503	SO:0001583	missense	54491				CCDS3884.1	5p15.2	2014-02-24			ENSG00000145569	ENSG00000145569		"OTU domain containing"	25629	protein-coding gene	gene with protein product						12477932	Standard	NM_019018		Approved	FLJ11127, NET20	uc003jfj.3	Q9NUU6	OTTHUMG00000131056	ENST00000274217.3:c.686T>C	chr5.hg19:g.14608915T>C	ENSP00000274217:p.Leu229Pro		Q53H50|Q9H037	Missense_Mutation	SNP	ENST00000274217.3	hg19	CCDS3884.1	.	.	.	.	.	.	.	.	.	.	T	16.58	3.162069	0.57368	.	.	ENSG00000145569	ENST00000274217	T	0.16597	2.33	4.89	4.89	0.63831	.	0.109676	0.40064	N	0.001185	T	0.41213	0.1149	M	0.72894	2.215	0.58432	D	0.999999	D	0.89917	1.0	D	0.76575	0.988	T	0.37454	-0.9705	10	0.87932	D	0	-8.3487	14.4858	0.67616	0.0:0.0:0.0:1.0	.	229	Q9NUU6	F105A_HUMAN	P	229	ENSP00000274217:L229P	ENSP00000274217:L229P	L	+	2	0	FAM105A	14661915	0.991000	0.36638	0.996000	0.52242	0.879000	0.50718	4.189000	0.58358	1.819000	0.53055	0.477000	0.44152	CTT		0.328	FAM105A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253710.1	NM_019018		C	14608915	T	C	14608915	3	2	808	1	0	0	0	0	1	0	0	0	5389	1609	56	3	712	3	FAM105A	5	14608915	Missense_Mutation	SNP	T	TCGA-UZ-A9PV-01A-11D-A42J-10	8236277	14608915	166306345	18	48356											
AQPEP	206338	hgsc.bcm.edu	37	5	115351418	115351418	+	Silent	SNP	C	C	G	rs143698388		TCGA-UZ-A9PV-01A-11D-A42J-10	TCGA-UZ-A9PV-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b0d2ed48-20a7-461b-a05b-356f5c192282	4c8c47c9-9ba8-4f00-a029-5d6e48a25489	g.chr5:115351418C>G	ENST00000357872.4	+	18	2836	c.2712C>G	c.(2710-2712)gtC>gtG	p.V904V	AQPEP_ENST00000515454.1_3'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		904						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.V904V(1)									GCCGGTATGTCGCAAAAGACT	0.413																																																1	Substitution - coding silent(1)	large_intestine(1)											78	76	77					5																	115351418		2202	4300	6502	SO:0001819	synonymous_variant	0																														ENST00000357872.4:c.2712C>G	chr5.hg19:g.115351418C>G			A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Silent	SNP	ENST00000357872.4	hg19	CCDS4124.1																																																																																				0.413	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1			G	115351418	C	G	115351418	2	3	808	1	0	0	0	0	0	0	0	1	834	871	31	4		4	AQPEP	5	115351418	Silent	SNP	C	TCGA-UZ-A9PV-01A-11D-A42J-10	100742503	115351418	65563842	19	48357											
MARCH3	115123	hgsc.bcm.edu	37	5	126253785	126253785	+	Missense_Mutation	SNP	C	C	G			TCGA-UZ-A9PV-01A-11D-A42J-10	TCGA-UZ-A9PV-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b0d2ed48-20a7-461b-a05b-356f5c192282	4c8c47c9-9ba8-4f00-a029-5d6e48a25489	g.chr5:126253785C>G	ENST00000308660.5	-	2	593	c.79G>C	c.(79-81)Gtg>Ctg	p.V27L	MARCH3_ENST00000502289.1_5'UTR|MARCH3_ENST00000515241.1_Missense_Mutation_p.V27L	NM_178450.3	NP_848545.1	Q86UD3	MARH3_HUMAN	membrane-associated ring finger (C3HC4) 3, E3 ubiquitin protein ligase	27					endocytosis (GO:0006897)|protein ubiquitination (GO:0016567)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.074)|OV - Ovarian serous cystadenocarcinoma(64;0.0793)		CAATCCTCCACCGTCTTCACC	0.572																																																0													65	59	61					5																	126253785		2203	4300	6503	SO:0001583	missense	115123			AF055007	CCDS4141.1	5q23.2	2013-01-09	2012-02-23		ENSG00000173926	ENSG00000173926		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	28728	protein-coding gene	gene with protein product		613333	"membrane-associated ring finger (C3HC4) 3"			14722266, 8619474	Standard	NM_178450		Approved	MGC48332, MARCH-III, RNF173	uc003kuf.4	Q86UD3	OTTHUMG00000128968	ENST00000308660.5:c.79G>C	chr5.hg19:g.126253785C>G	ENSP00000309141:p.Val27Leu		A8K264|B9EJE7	Missense_Mutation	SNP	ENST00000308660.5	hg19	CCDS4141.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.166917	0.57476	.	.	ENSG00000173926	ENST00000308660;ENST00000515241	T;T	0.24908	2.14;1.83	4.58	4.58	0.56647	.	0.206119	0.32769	N	0.005671	T	0.18923	0.0454	N	0.25485	0.75	0.48040	D	0.999578	B;B	0.16802	0.019;0.003	B;B	0.15052	0.012;0.006	T	0.03296	-1.1051	10	0.25751	T	0.34	-10.0037	15.0423	0.71799	0.0:0.8565:0.1435:0.0	.	27;27	B9EJE7;Q86UD3	.;MARH3_HUMAN	L	27	ENSP00000309141:V27L;ENSP00000421979:V27L	ENSP00000309141:V27L	V	-	1	0	MARCH3	126281684	1.000000	0.71417	0.980000	0.43619	0.988000	0.76386	5.656000	0.67988	2.833000	0.97629	0.650000	0.86243	GTG		0.572	MARCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250955.2	NM_178450		G	126253785	C	G	126253785	3	3	808	1	0	0	0	0	1	0	0	0	9304	507	18	4	698	4	MARCH3	5	126253785	Missense_Mutation	SNP	C	TCGA-UZ-A9PV-01A-11D-A42J-10	10902367	126253785	54661475	20	48358											
GRXCR2	643226	hgsc.bcm.edu	37	5	145246288	145246288	+	Missense_Mutation	SNP	G	G	T			TCGA-UZ-A9PV-01A-11D-A42J-10	TCGA-UZ-A9PV-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b0d2ed48-20a7-461b-a05b-356f5c192282	4c8c47c9-9ba8-4f00-a029-5d6e48a25489	g.chr5:145246288G>T	ENST00000377976.1	-	2	339	c.340C>A	c.(340-342)Cta>Ata	p.L114I		NM_001080516.1	NP_001073985.1	A6NFK2	GRCR2_HUMAN	glutaredoxin, cysteine rich 2	114						cell projection (GO:0042995)				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						ATAATAGGTAGGGGCTAGAGA	0.408																																																0													55	58	57					5																	145246288		2203	4300	6503	SO:0001583	missense	643226				CCDS34263.1	5q32	2014-03-14			ENSG00000204928	ENSG00000204928			33862	protein-coding gene	gene with protein product		615762				24619944	Standard	NM_001080516		Approved	DFNB101	uc003lns.1	A6NFK2	OTTHUMG00000163417	ENST00000377976.1:c.340C>A	chr5.hg19:g.145246288G>T	ENSP00000367214:p.Leu114Ile			Missense_Mutation	SNP	ENST00000377976.1	hg19	CCDS34263.1	.	.	.	.	.	.	.	.	.	.	G	14.25	2.478994	0.44044	.	.	ENSG00000204928	ENST00000377976	T	0.22539	1.95	5.43	4.51	0.55191	.	0.330758	0.33772	N	0.004562	T	0.10594	0.0259	N	0.08118	0	0.22435	N	0.999101	B	0.22909	0.077	B	0.23018	0.043	T	0.12708	-1.0537	10	0.62326	D	0.03	-0.8771	7.9992	0.30286	0.0913:0.1642:0.7445:0.0	.	114	A6NFK2	GRCR2_HUMAN	I	114	ENSP00000367214:L114I	ENSP00000367214:L114I	L	-	1	2	GRXCR2	145226481	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	2.602000	0.46257	2.540000	0.85666	0.462000	0.41574	CTA		0.408	GRXCR2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373289.2			T	145246288	G	T	145246288	3	4	808	1	0	0	0	0	1	0	0	0	6815	991	35	4	414	4	GRXCR2	5	145246288	Missense_Mutation	SNP	G	TCGA-UZ-A9PV-01A-11D-A42J-10	18992503	145246288	35668972	21	48359											
CDHR2	54825	hgsc.bcm.edu	37	5	176008530	176008530	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9PV-01A-11D-A42J-10	TCGA-UZ-A9PV-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b0d2ed48-20a7-461b-a05b-356f5c192282	4c8c47c9-9ba8-4f00-a029-5d6e48a25489	g.chr5:176008530G>A	ENST00000510636.1	+	17	2279	c.2005G>A	c.(2005-2007)Gac>Aac	p.D669N	CDHR2_ENST00000261944.5_Missense_Mutation_p.D669N|CDHR2_ENST00000506348.1_Missense_Mutation_p.D669N	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	669	Cadherin 6. {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						GCTTGTGTCTGACTGCGGCGA	0.642																																																0													51	53	52					5																	176008530		2203	4300	6503	SO:0001583	missense	54825			AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"Cadherins / Cadherin-related"	18231	protein-coding gene	gene with protein product	"protocadherin LKC"		"protocadherin 24"	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.2005G>A	chr5.hg19:g.176008530G>A	ENSP00000424565:p.Asp669Asn		A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	ENST00000510636.1	hg19	CCDS34297.1	.	.	.	.	.	.	.	.	.	.	G	19.61	3.860050	0.71834	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.65364	-0.15;-0.15;-0.15	5.47	5.47	0.80525	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.85128	0.5626	M	0.93763	3.455	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88812	0.3292	9	0.87932	D	0	-43.5559	18.9133	0.92494	0.0:0.0:1.0:0.0	.	669	Q9BYE9	CDHR2_HUMAN	N	669	ENSP00000424565:D669N;ENSP00000261944:D669N;ENSP00000421078:D669N	ENSP00000261944:D669N	D	+	1	0	CDHR2	175941136	1.000000	0.71417	0.114000	0.21550	0.152000	0.21847	8.137000	0.89612	2.575000	0.86900	0.549000	0.68633	GAC		0.642	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		A	176008530	G	A	176008530	3	1	808	1	0	0	0	0	1	0	0	0	3121	1290	45	2	2067	2	CDHR2	5	176008530	Missense_Mutation	SNP	G	TCGA-UZ-A9PV-01A-11D-A42J-10	30762242	176008530	4906730	22	48360											
AGPAT1	10554	hgsc.bcm.edu	37	6	32139113	32139113	+	Missense_Mutation	SNP	G	G	T			TCGA-UZ-A9PV-01A-11D-A42J-10	TCGA-UZ-A9PV-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b0d2ed48-20a7-461b-a05b-356f5c192282	4c8c47c9-9ba8-4f00-a029-5d6e48a25489	g.chr6:32139113G>T	ENST00000395499.1	-	2	740	c.161C>A	c.(160-162)cCt>cAt	p.P54H	AGPAT1_ENST00000395496.1_Missense_Mutation_p.P54H|AGPAT1_ENST00000336984.6_Missense_Mutation_p.P54H|AGPAT1_ENST00000490711.1_5'UTR|AGPAT1_ENST00000395497.1_Missense_Mutation_p.P54H|AGPAT1_ENST00000375107.3_Missense_Mutation_p.P54H|AGPAT1_ENST00000412465.2_De_novo_Start_InFrame|AGPAT1_ENST00000375104.2_Missense_Mutation_p.P54H|PPT2-EGFL8_ENST00000422437.1_3'UTR			Q99943	PLCA_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 1	54					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2)	12						GGCACACACAGGGATGGCGAG	0.562																																																0													171	143	153					6																	32139113		1511	2708	4219	SO:0001583	missense	10554			U56417	CCDS4744.1	6p21.3	2013-02-05	2013-02-05		ENSG00000204310	ENSG00000204310	2.3.1.51	"1-acylglycerol-3-phosphate O-acyltransferases"	324	protein-coding gene	gene with protein product	"lysophosphatidic acid acyltransferase, alpha"	603099	"1-acylglycerol-3-phosphate O-acyltransferase 1 (lysophosphatidic acid acyltransferase, alpha)"			9461603, 9291118	Standard	NM_032741		Approved	LPAAT-alpha	uc003oae.3	Q99943	OTTHUMG00000031210	ENST00000395499.1:c.161C>A	chr6.hg19:g.32139113G>T	ENSP00000378877:p.Pro54His		A2BFI5|Q5BL03	Missense_Mutation	SNP	ENST00000395499.1	hg19	CCDS4744.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.425097	0.83667	.	.	ENSG00000204310	ENST00000395496;ENST00000375107;ENST00000395499;ENST00000375104;ENST00000395497;ENST00000336984	T;T;T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52;-0.52;-0.52	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.75428	0.3848	L	0.53249	1.67	0.80722	D	1	D	0.76494	0.999	D	0.64144	0.922	T	0.78542	-0.2164	10	0.72032	D	0.01	-8.6989	16.0303	0.80572	0.0:0.0:1.0:0.0	.	54	Q99943	PLCA_HUMAN	H	54	ENSP00000378874:P54H;ENSP00000364248:P54H;ENSP00000378877:P54H;ENSP00000364245:P54H;ENSP00000378875:P54H;ENSP00000337463:P54H	ENSP00000337463:P54H	P	-	2	0	AGPAT1	32247091	0.990000	0.36364	1.000000	0.80357	0.982000	0.71751	1.946000	0.40283	2.392000	0.81423	0.561000	0.74099	CCT		0.562	AGPAT1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268941.1	NM_006411		T	32139113	G	T	32139113	3	4	808	1	0	0	0	0	1	0	0	0	386	1000	35	4	714	4	AGPAT1	6	32139113	Missense_Mutation	SNP	G	TCGA-UZ-A9PV-01A-11D-A42J-10		32139113	138975954	23	48361											
OOEP	441161	hgsc.bcm.edu	37	6	74078985	74078985	+	Missense_Mutation	SNP	C	C	A	rs199988719		TCGA-UZ-A9PV-01A-11D-A42J-10	TCGA-UZ-A9PV-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b0d2ed48-20a7-461b-a05b-356f5c192282	4c8c47c9-9ba8-4f00-a029-5d6e48a25489	g.chr6:74078985C>A	ENST00000370359.5	-	2	313	c.314G>T	c.(313-315)cGg>cTg	p.R105L	OOEP_ENST00000370363.1_Missense_Mutation_p.R50L|OOEP-AS1_ENST00000445350.2_RNA	NM_001080507.2	NP_001073976.1	A6NGQ2	OOEP_HUMAN	oocyte expressed protein	105	KH; atypical.				cellular protein complex assembly (GO:0043623)|embryo implantation (GO:0007566)|embryonic pattern specification (GO:0009880)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|protein phosphorylation (GO:0006468)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|protein complex (GO:0043234)	RNA binding (GO:0003723)			large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8						GCTCTTCACCCGATTCTGTAC	0.567																																																0													62	61	61					6																	74078985		1987	4163	6150	SO:0001583	missense	441161			BC024931	CCDS47451.1	6q13	2012-02-22	2012-02-22	2007-11-13	ENSG00000203907	ENSG00000203907			21382	protein-coding gene	gene with protein product	"KH homology domain containing 2"	611689	"chromosome 6 open reading frame 156", "oocyte expressed protein homolog (dog)"	C6orf156		17913455	Standard	NM_001080507		Approved	Em:AC019205.2, KHDC2	uc003pgu.4	A6NGQ2	OTTHUMG00000150057	ENST00000370359.5:c.314G>T	chr6.hg19:g.74078985C>A	ENSP00000359384:p.Arg105Leu		A6NIN5|A9UIB7	Missense_Mutation	SNP	ENST00000370359.5	hg19	CCDS47451.1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.343145	0.41498	.	.	ENSG00000203907	ENST00000370363;ENST00000370359;ENST00000441145	T;T;T	0.13089	2.62;2.62;2.62	3.93	-2.22	0.06952	.	0.730725	0.11792	N	0.529109	T	0.04861	0.0131	M	0.65498	2.005	0.09310	N	1	P;P	0.47841	0.901;0.872	B;B	0.40782	0.303;0.34	T	0.17930	-1.0353	10	0.54805	T	0.06	-15.2063	4.2812	0.10833	0.1618:0.3562:0.0:0.4819	.	50;105	F2Z364;A6NGQ2	.;OOEP_HUMAN	L	50;105;50	ENSP00000359388:R50L;ENSP00000359384:R105L;ENSP00000397430:R50L	ENSP00000359384:R105L	R	-	2	0	OOEP	74135706	0.152000	0.22762	0.000000	0.03702	0.118000	0.20060	0.038000	0.13862	-0.521000	0.06426	-0.150000	0.13652	CGG		0.567	OOEP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108414.2	NM_001080507		A	74078985	C	A	74078985	3	1	808	1	0	0	0	0	1	0	0	0	10872	652	23	4	143	4	OOEP	6	74078985	Missense_Mutation	SNP	C	TCGA-UZ-A9PV-01A-11D-A42J-10	41939872	74078985	97036082	24	48362											
ROS1	6098	hgsc.bcm.edu	37	6	117686779	117686779	+	Missense_Mutation	SNP	C	C	G			TCGA-UZ-A9PV-01A-11D-A42J-10	TCGA-UZ-A9PV-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b0d2ed48-20a7-461b-a05b-356f5c192282	4c8c47c9-9ba8-4f00-a029-5d6e48a25489	g.chr6:117686779C>G	ENST00000368508.3	-	19	3136	c.2938G>C	c.(2938-2940)Gtt>Ctt	p.V980L	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.V975L	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	980	Fibronectin type-III 4. {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)		CTGTAGAAAACTACACCCCAG	0.418			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"																																		Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"O, E"	0													78	69	72					6																	117686779		2203	4300	6503	SO:0001583	missense	6098			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"Fibronectin type III domain containing"	10261	protein-coding gene	gene with protein product		165020	"v-ros avian UR2 sarcoma virus oncogene homolog 1", "v-ros UR2 sarcoma virus oncogene homolog 1 (avian)", "c-ros oncogene 1 , receptor tyrosine kinase"			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.2938G>C	chr6.hg19:g.117686779C>G	ENSP00000357494:p.Val980Leu		Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	hg19	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	C	12.74	2.029959	0.35797	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.51817	0.69;0.69	4.98	1.7	0.24286	.	0.512100	0.17556	N	0.169963	T	0.15176	0.0366	N	0.24115	0.695	0.35341	D	0.786462	B	0.21452	0.056	B	0.18871	0.023	T	0.03545	-1.1026	10	0.72032	D	0.01	.	7.7926	0.29129	0.0:0.4713:0.0:0.5287	.	980	P08922	ROS1_HUMAN	L	980;975	ENSP00000357494:V980L;ENSP00000357493:V975L	ENSP00000357493:V975L	V	-	1	0	ROS1	117793472	0.745000	0.28261	0.167000	0.22817	0.993000	0.82548	1.022000	0.30052	0.123000	0.18342	0.650000	0.86243	GTT		0.418	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			G	117686779	C	G	117686779	3	3	808	1	0	0	0	0	1	0	0	0	13537	565	20	4	4205	4	ROS1	6	117686779	Missense_Mutation	SNP	C	TCGA-UZ-A9PV-01A-11D-A42J-10	43607794	117686779	53428288	25	48363											
TXLNB	167838	hgsc.bcm.edu	37	6	139563669	139563669	+	Silent	SNP	G	G	T	rs202149819	byFrequency	TCGA-UZ-A9PV-01A-11D-A42J-10	TCGA-UZ-A9PV-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b0d2ed48-20a7-461b-a05b-356f5c192282	4c8c47c9-9ba8-4f00-a029-5d6e48a25489	g.chr6:139563669G>T	ENST00000358430.3	-	10	2281	c.2049C>A	c.(2047-2049)gtC>gtA	p.V683V	RP1-225E12.3_ENST00000585874.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	683						cytoplasm (GO:0005737)				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		AGGCTTAGTCGACGCCTTCCA	0.582																																																0													39	45	43					6																	139563669		2202	4300	6502	SO:0001819	synonymous_variant	167838				CCDS34545.1	6q23.3	2008-02-05	2005-07-29	2005-07-29	ENSG00000164440	ENSG00000164440			21617	protein-coding gene	gene with protein product		611438	"chromosome 6 open reading frame 198"	C6orf198		15184072	Standard	NM_153235		Approved	DKFZp451A175, MDP77, dJ522B19.2	uc021zfy.1	Q8N3L3	OTTHUMG00000015688	ENST00000358430.3:c.2049C>A	chr6.hg19:g.139563669G>T			Q5VTF3|Q76L25|Q86T52|Q8N3S2	Silent	SNP	ENST00000358430.3	hg19	CCDS34545.1																																																																																				0.582	TXLNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042458.1	NM_153235		T	139563669	G	T	139563669	2	4	808	1	0	0	0	0	0	0	0	1	16793	1045	37	4		4	TXLNB	6	139563669	Silent	SNP	G	TCGA-UZ-A9PV-01A-11D-A42J-10	21876890	139563669	31551398	26	48364											
HECW1	23072	hgsc.bcm.edu	37	7	43485157	43485157	+	Missense_Mutation	SNP	A	A	G			TCGA-UZ-A9PV-01A-11D-A42J-10	TCGA-UZ-A9PV-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b0d2ed48-20a7-461b-a05b-356f5c192282	4c8c47c9-9ba8-4f00-a029-5d6e48a25489	g.chr7:43485157A>G	ENST00000395891.2	+	11	2991	c.2386A>G	c.(2386-2388)Aat>Gat	p.N796D	HECW1_ENST00000453890.1_Missense_Mutation_p.N796D	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	796					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						AGGTCCAAGCAATCGGAGAGA	0.587																																																0													8	9	9					7																	43485157		1779	3853	5632	SO:0001583	missense	23072			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.2386A>G	chr7.hg19:g.43485157A>G	ENSP00000379228:p.Asn796Asp		A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	hg19	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	A	0.231	-1.021230	0.02061	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.30981	1.51;1.51	5.33	-4.08	0.03963	.	1.229190	0.05172	N	0.499662	T	0.19087	0.0458	N	0.19112	0.55	0.19300	N	0.999974	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.30475	-0.9977	10	0.17832	T	0.49	.	12.2128	0.54389	0.3522:0.5858:0.062:0.0	.	796;796	B4DH42;Q76N89	.;HECW1_HUMAN	D	796	ENSP00000379228:N796D;ENSP00000407774:N796D	ENSP00000265522:N796D	N	+	1	0	HECW1	43451682	0.001000	0.12720	0.000000	0.03702	0.195000	0.23768	-0.115000	0.10741	-1.064000	0.03172	-1.243000	0.01532	AAT		0.587	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		G	43485157	A	G	43485157	3	3	808	1	0	0	0	0	1	0	0	0	7044	130	5	3	2420	3	HECW1	7	43485157	Missense_Mutation	SNP	A	TCGA-UZ-A9PV-01A-11D-A42J-10		43485157	115653506	27	48365											
LRRC17	10234	hgsc.bcm.edu	37	7	102584947	102584947	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9PV-01A-11D-A42J-10	TCGA-UZ-A9PV-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b0d2ed48-20a7-461b-a05b-356f5c192282	4c8c47c9-9ba8-4f00-a029-5d6e48a25489	g.chr7:102584947G>A	ENST00000339431.4	+	4	1514	c.1219G>A	c.(1219-1221)Gca>Aca	p.A407T	FBXL13_ENST00000393772.2_Intron|LRRC17_ENST00000485478.1_3'UTR|FBXL13_ENST00000379308.3_Intron|LRRC17_ENST00000249377.4_3'UTR|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000456695.1_Intron	NM_001031692.2	NP_001026862.1	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17	407					bone marrow development (GO:0048539)|negative regulation of osteoclast differentiation (GO:0045671)|ossification (GO:0001503)	extracellular space (GO:0005615)				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						CAAGTTACCAGCATATCCTGA	0.378																																																0													88	84	85					7																	102584947		2203	4300	6503	SO:0001583	missense	10234			U32907	CCDS5727.1, CCDS34721.1	7q22.1	2009-05-26			ENSG00000128606	ENSG00000128606			16895	protein-coding gene	gene with protein product						8982252, 19336404	Standard	NM_005824		Approved	P37NB, H_RG318M05.3	uc003vau.3	Q8N6Y2	OTTHUMG00000157210	ENST00000339431.4:c.1219G>A	chr7.hg19:g.102584947G>A	ENSP00000344242:p.Ala407Thr		Q13288|Q6UWA7|Q75MG5	Missense_Mutation	SNP	ENST00000339431.4	hg19	CCDS34721.1	.	.	.	.	.	.	.	.	.	.	G	11.22	1.574748	0.28092	.	.	ENSG00000128606	ENST00000339431	T	0.57752	0.38	5.79	1.59	0.23543	.	0.701797	0.12953	N	0.425685	T	0.36936	0.0985	L	0.44542	1.39	0.09310	N	0.999995	B	0.02656	0.0	B	0.04013	0.001	T	0.23332	-1.0191	10	0.14656	T	0.56	-5.854	4.826	0.13416	0.3778:0.0:0.449:0.1732	.	407	Q8N6Y2	LRC17_HUMAN	T	407	ENSP00000344242:A407T	ENSP00000344242:A407T	A	+	1	0	LRRC17	102372183	0.002000	0.14202	0.715000	0.30552	0.984000	0.73092	0.041000	0.13927	0.380000	0.24823	0.655000	0.94253	GCA		0.378	LRRC17-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347930.1	NM_005824		A	102584947	G	A	102584947	3	1	808	1	0	0	0	0	1	0	0	0	8975	971	34	2	1247	2	LRRC17	7	102584947	Missense_Mutation	SNP	G	TCGA-UZ-A9PV-01A-11D-A42J-10	59099790	102584947	56553716	28	48366											
WASL	8976	hgsc.bcm.edu	37	7	123329152	123329152	+	Missense_Mutation	SNP	A	A	G			TCGA-UZ-A9PV-01A-11D-A42J-10	TCGA-UZ-A9PV-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b0d2ed48-20a7-461b-a05b-356f5c192282	4c8c47c9-9ba8-4f00-a029-5d6e48a25489	g.chr7:123329152A>G	ENST00000223023.4	-	10	1732	c.1400T>C	c.(1399-1401)aTt>aCt	p.I467T		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	467					actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cellular protein complex localization (GO:0034629)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane budding (GO:0006900)|mitotic nuclear division (GO:0007067)|nitric oxide metabolic process (GO:0046209)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of filopodium assembly (GO:0051491)|protein complex assembly (GO:0006461)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|response to bacterium (GO:0009617)|small molecule metabolic process (GO:0044281)|spindle localization (GO:0051653)|transcription, DNA-templated (GO:0006351)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	small GTPase regulator activity (GO:0005083)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGCACCCACAATTCCTGAAGT	0.448																																																0													178	183	182					7																	123329152		2203	4300	6503	SO:0001583	missense	8976			D88460	CCDS34743.1	7q31.3	2008-02-01			ENSG00000106299	ENSG00000106299			12735	protein-coding gene	gene with protein product		605056				9422512, 9322739	Standard	NM_003941		Approved	N-WASP, NWASP	uc003vkz.3	O00401	OTTHUMG00000157346	ENST00000223023.4:c.1400T>C	chr7.hg19:g.123329152A>G	ENSP00000223023:p.Ile467Thr		A1JUI9|Q7Z746	Missense_Mutation	SNP	ENST00000223023.4	hg19	CCDS34743.1	.	.	.	.	.	.	.	.	.	.	A	17.89	3.499369	0.64298	.	.	ENSG00000106299	ENST00000223023	D	0.95949	-3.86	5.29	5.29	0.74685	Wiscott-Aldrich syndrome, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.93549	0.7941	L	0.47016	1.485	0.80722	D	1	P	0.41748	0.761	B	0.40982	0.345	D	0.94194	0.7444	10	0.87932	D	0	-15.0061	15.2082	0.73195	1.0:0.0:0.0:0.0	.	467	O00401	WASL_HUMAN	T	467	ENSP00000223023:I467T	ENSP00000223023:I467T	I	-	2	0	WASL	123116388	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.310000	0.96267	1.983000	0.57843	0.477000	0.44152	ATT		0.448	WASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348522.1	NM_003941		G	123329152	A	G	123329152	3	3	808	1	0	0	0	0	1	0	0	0	17261	101	4	3	125	3	WASL	7	123329152	Missense_Mutation	SNP	A	TCGA-UZ-A9PV-01A-11D-A42J-10	20744205	123329152	35809511	29	48367											
SLC13A4	26266	hgsc.bcm.edu	37	7	135412241	135412241	+	Missense_Mutation	SNP	C	C	A			TCGA-UZ-A9PV-01A-11D-A42J-10	TCGA-UZ-A9PV-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b0d2ed48-20a7-461b-a05b-356f5c192282	4c8c47c9-9ba8-4f00-a029-5d6e48a25489	g.chr7:135412241C>A	ENST00000354042.4	-	1	693	c.4G>T	c.(4-6)Ggc>Tgc	p.G2C	FAM180A_ENST00000435869.1_5'Flank	NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	2					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						TGCAGCAGGCCCATCGCGCCT	0.652																																																0													28	26	27					7																	135412241		1839	3433	5272	SO:0001583	missense	26266			AF169301	CCDS5840.1	7q33	2013-07-18	2013-07-18		ENSG00000164707	ENSG00000164707		"Solute carriers"	15827	protein-coding gene	gene with protein product	"sulphate transporter 1"	604309	"solute carrier family 13 (sodium/sulphate symporters), member 4"			10535998	Standard	NM_012450		Approved	SUT-1, SUT1	uc003vta.3	Q9UKG4	OTTHUMG00000155539	ENST00000354042.4:c.4G>T	chr7.hg19:g.135412241C>A	ENSP00000297282:p.Gly2Cys		A4D1Q4|Q8N631	Missense_Mutation	SNP	ENST00000354042.4	hg19	CCDS5840.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.369767	0.42003	.	.	ENSG00000164707	ENST00000354042	T	0.69435	-0.4	5.67	5.67	0.87782	.	0.175722	0.48767	D	0.000168	T	0.64983	0.2648	L	0.38175	1.15	0.37736	D	0.925466	P	0.49635	0.926	P	0.46718	0.525	T	0.70757	-0.4785	10	0.56958	D	0.05	.	17.2665	0.87088	0.0:1.0:0.0:0.0	.	2	Q9UKG4	S13A4_HUMAN	C	2	ENSP00000297282:G2C	ENSP00000297282:G2C	G	-	1	0	SLC13A4	135062781	1.000000	0.71417	0.999000	0.59377	0.231000	0.25187	4.087000	0.57671	2.679000	0.91253	0.655000	0.94253	GGC		0.652	SLC13A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340558.1	NM_012450		A	135412241	C	A	135412241	3	1	808	1	0	0	0	0	1	0	0	0	14400	623	22	4	1940	4	SLC13A4	7	135412241	Missense_Mutation	SNP	C	TCGA-UZ-A9PV-01A-11D-A42J-10	12083089	135412241	23726422	30	48368											
KCNU1	157855	hgsc.bcm.edu	37	8	36788664	36788664	+	Splice_Site	SNP	G	G	A			TCGA-UZ-A9PV-01A-11D-A42J-10	TCGA-UZ-A9PV-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b0d2ed48-20a7-461b-a05b-356f5c192282	4c8c47c9-9ba8-4f00-a029-5d6e48a25489	g.chr8:36788664G>A	ENST00000399881.3	+	25	2968		c.e25+1			NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1						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)		AGACGTTAATGTGAGTCTACT	0.448																																																0													116	110	112					8																	36788664		1873	4109	5982	SO:0001630	splice_region_variant	157855			BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.2931+1G>A	chr8.hg19:g.36788664G>A				Splice_Site	SNP	ENST00000399881.3	hg19	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	G	8.145	0.786059	0.16189	.	.	ENSG00000215262	ENST00000399881	.	.	.	5.41	4.54	0.55810	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1602	0.48512	0.0858:0.0:0.9142:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KCNU1	36907822	1.000000	0.71417	0.921000	0.36526	0.007000	0.05969	4.717000	0.61923	1.287000	0.44583	-0.142000	0.14014	.		0.448	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836	Intron	A	36788664	G	A	36788664	5	1	808	1	0	0	0	0	0	0	1	0	8095	1391	48	2	3030	2	KCNU1	8	36788664	Splice_Site	SNP	G	TCGA-UZ-A9PV-01A-11D-A42J-10		36788664	109575358	31	48369											
FER1L6	654463	hgsc.bcm.edu	37	8	125061887	125061887	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9PV-01A-11D-A42J-10	TCGA-UZ-A9PV-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b0d2ed48-20a7-461b-a05b-356f5c192282	4c8c47c9-9ba8-4f00-a029-5d6e48a25489	g.chr8:125061887G>A	ENST00000522917.1	+	22	2970	c.2764G>A	c.(2764-2766)Gtt>Att	p.V922I	FER1L6-AS2_ENST00000601180.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.V922I|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	922						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)			GGCTGCTCCTGTTGTGAAGCT	0.468																																																0													65	73	70					8																	125061887		1949	4156	6105	SO:0001583	missense	654463			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.2764G>A	chr8.hg19:g.125061887G>A	ENSP00000428280:p.Val922Ile			Missense_Mutation	SNP	ENST00000522917.1	hg19	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	G	6.965	0.547952	0.13312	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	T;T	0.67171	-0.25;-0.25	5.91	4.12	0.48240	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.431030	0.22316	U	0.061665	T	0.55481	0.1923	L	0.47716	1.5	0.44162	D	0.996969	B	0.13145	0.007	B	0.17433	0.018	T	0.44817	-0.9303	10	0.19590	T	0.45	.	8.7432	0.34569	0.2874:0.0:0.7126:0.0	.	922	Q2WGJ9	FR1L6_HUMAN	I	922	ENSP00000428280:V922I;ENSP00000381982:V922I	ENSP00000381982:V922I	V	+	1	0	FER1L6	125131068	0.005000	0.15991	0.750000	0.31169	0.248000	0.25809	1.150000	0.31639	0.835000	0.34877	-0.150000	0.13652	GTT		0.468	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		A	125061887	G	A	125061887	3	1	808	1	0	0	0	0	1	0	0	0	5817	1377	48	2	2846	2	FER1L6	8	125061887	Missense_Mutation	SNP	G	TCGA-UZ-A9PV-01A-11D-A42J-10	88273223	125061887	21302135	32	48370											
RASEF	158158	hgsc.bcm.edu	37	9	85630731	85630731	+	Missense_Mutation	SNP	T	T	C			TCGA-UZ-A9PV-01A-11D-A42J-10	TCGA-UZ-A9PV-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b0d2ed48-20a7-461b-a05b-356f5c192282	4c8c47c9-9ba8-4f00-a029-5d6e48a25489	g.chr9:85630731T>C	ENST00000376447.3	-	4	1014	c.754A>G	c.(754-756)Aag>Gag	p.K252E		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	252					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						TTTCTTAGCTTTTTAATGGTC	0.423																																																0													298	275	283					9																	85630731		2203	4300	6503	SO:0001583	missense	158158			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.754A>G	chr9.hg19:g.85630731T>C	ENSP00000365630:p.Lys252Glu		A6NC29|Q96N04	Missense_Mutation	SNP	ENST00000376447.3	hg19	CCDS6662.1	.	.	.	.	.	.	.	.	.	.	T	16.30	3.085637	0.55861	.	.	ENSG00000165105	ENST00000376447	T	0.68479	-0.33	6.16	6.16	0.99307	.	0.144833	0.64402	N	0.000007	T	0.63129	0.2485	L	0.59436	1.845	0.80722	D	1	P	0.44429	0.835	B	0.35813	0.211	T	0.69621	-0.5096	10	0.87932	D	0	.	16.8061	0.85666	0.0:0.0:0.0:1.0	.	252	Q8IZ41	RASEF_HUMAN	E	252	ENSP00000365630:K252E	ENSP00000365630:K252E	K	-	1	0	RASEF	84820551	1.000000	0.71417	1.000000	0.80357	0.421000	0.31385	6.427000	0.73378	2.367000	0.80283	0.528000	0.53228	AAG		0.423	RASEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052825.1	NM_152573		C	85630731	T	C	85630731	3	2	808	1	0	0	0	0	1	0	0	0	13074	1850	64	3	1524	3	RASEF	9	85630731	Missense_Mutation	SNP	T	TCGA-UZ-A9PV-01A-11D-A42J-10		85630731	55582700	33	48371											
PARG	119016	hgsc.bcm.edu	37	10	51363332	51363333	+	Intron	INS	-	-	A			TCGA-UZ-A9PV-01A-11D-A42J-10	TCGA-UZ-A9PV-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b0d2ed48-20a7-461b-a05b-356f5c192282	4c8c47c9-9ba8-4f00-a029-5d6e48a25489	g.chr10:51363332_51363333insA	ENST00000602930.1	-	1	468				RP11-592B15.3_ENST00000432221.2_RNA	NM_001276343.1	NP_001263272.1	Q5SRD3	AGAP8_HUMAN							regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|lung(2)|ovary(2)	6						ACAACTTGCACAGTCTTCCCCA	0.47																																																0																																										SO:0001627	intron_variant	8505																														ENST00000602930.1:c.81+7520->T	chr10.hg19:g.51363333_51363333dupA				Frame_Shift_Ins	INS	ENST00000602930.1	hg19																																																																																					0.47	AGAP8-006	PUTATIVE	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000467541.1			A	51363333	-	A	51363332	6	5	808	0	1	1	1	0	0	0	0	0	11450	478	17	0		0	PARG	10	51363332	Intron	INS	-	TCGA-UZ-A9PV-01A-11D-A42J-10		51363332	84171415	34	48372											
LGR4	55366	hgsc.bcm.edu	37	11	27413998	27413999	+	Frame_Shift_Ins	INS	-	-	T			TCGA-UZ-A9PV-01A-11D-A42J-10	TCGA-UZ-A9PV-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b0d2ed48-20a7-461b-a05b-356f5c192282	4c8c47c9-9ba8-4f00-a029-5d6e48a25489	g.chr11:27413998_27413999insT	ENST00000379214.4	-	3	767_768	c.324_325insA	c.(322-327)aaagttfs	p.V109fs	LGR4_ENST00000389858.4_Frame_Shift_Ins_p.V85fs|LGR4_ENST00000480977.2_Intron	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	109					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						ACTTACAGAACTTTGAGTTCTT	0.376																																																0																																										SO:0001589	frameshift_variant	55366			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.325dupA	chr11.hg19:g.27414001_27414001dupT	ENSP00000368516:p.Val109fs		A6NCH3|G5E9B3|Q8N537|Q9NYD1	Frame_Shift_Ins	INS	ENST00000379214.4	hg19	CCDS31449.1																																																																																				0.376	LGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257467.1	NM_018490		T	27413999	-	T	27413998	7	5	808	1	0	1	1	0	0	0	0	0	8758	565	20	0	2594	0	LGR4	11	27413998	Frame_Shift_Ins	INS	-	TCGA-UZ-A9PV-01A-11D-A42J-10		27413998	107592518	35	48373											
DNAJC24	196294	hgsc.bcm.edu	37	11	31451825	31451825	+	IGR	SNP	C	C	A			TCGA-UZ-A9PV-01A-11D-A42J-10	TCGA-UZ-A9PV-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b0d2ed48-20a7-461b-a05b-356f5c192282	4c8c47c9-9ba8-4f00-a029-5d6e48a25489	g.chr11:31451825C>A	ENST00000278200.1	-	0	795				DNAJC24_ENST00000465995.1_Missense_Mutation_p.H109Q	NM_144981.1	NP_659418.1	Q96LU5	IMP1L_HUMAN	IMP1 inner mitochondrial membrane peptidase-like (S. cerevisiae)						protein processing involved in protein targeting to mitochondrion (GO:0006627)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	serine-type peptidase activity (GO:0008236)			breast(1)|cervix(1)|large_intestine(1)|lung(4)	7	Lung SC(675;0.225)					CAGGTGATCACTCTTTTTATC	0.353																																																0													155	145	148					11																	31451825		1835	4085	5920	SO:0001628	intergenic_variant	120526				CCDS7874.1	11p13	2014-07-30			ENSG00000148950	ENSG00000148950			26317	protein-coding gene	gene with protein product		612323					Standard	NM_144981		Approved	FLJ25059	uc001msy.1	Q96LU5	OTTHUMG00000166226		chr11.hg19:g.31451825C>A			D3DQZ7|Q96SH9	Missense_Mutation	SNP	ENST00000278200.1	hg19	CCDS7874.1	.	.	.	.	.	.	.	.	.	.	C	1.616	-0.522774	0.04141	.	.	ENSG00000170946	ENST00000465995	T	0.28069	1.63	5.12	-10.2	0.00374	Zinc finger, DPH-type (2);	1.167550	0.05911	N	0.631602	T	0.06508	0.0167	N	0.01624	-0.795	0.09310	N	0.999996	B	0.06786	0.001	B	0.04013	0.001	T	0.17077	-1.0381	10	0.12766	T	0.61	.	0.9969	0.01469	0.1957:0.1745:0.2441:0.3857	.	108	Q6P3W2	DJC24_HUMAN	Q	109	ENSP00000417548:H109Q	ENSP00000417548:H109Q	H	+	3	2	DNAJC24	31408401	0.000000	0.05858	0.130000	0.21974	0.410000	0.31052	-1.536000	0.02208	-2.076000	0.00875	-0.259000	0.10710	CAC		0.353	IMMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388496.1	NM_144981		A	31451825	C	A	31451825	1	1	808	0	1	0	0	0	0	0	0	0	4644	564	20	4		4	DNAJC24	11	31451825	IGR	SNP	C	TCGA-UZ-A9PV-01A-11D-A42J-10	4037827	31451825	103554691	36	48374											
C11orf24	53838	hgsc.bcm.edu	37	11	68031211	68031211	+	Frame_Shift_Del	DEL	A	A	-			TCGA-UZ-A9PV-01A-11D-A42J-10	TCGA-UZ-A9PV-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b0d2ed48-20a7-461b-a05b-356f5c192282	4c8c47c9-9ba8-4f00-a029-5d6e48a25489	g.chr11:68031211delA	ENST00000304271.6	-	3	427	c.25delT	c.(25-27)tggfs	p.W9fs	C11orf24_ENST00000530166.1_Intron|C11orf24_ENST00000533310.1_Frame_Shift_Del_p.W9fs	NM_022338.3	NP_071733.1	Q96F05	CK024_HUMAN	chromosome 11 open reading frame 24	9						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)	13						GAGAAAATCCAAATGAGCACA	0.572																																					NSCLC(21;855 905 4198 36694)											0													67	61	63					11																	68031211		2200	4294	6494	SO:0001589	frameshift_variant	53838			AF264781	CCDS8180.1, CCDS73338.1	11q13.2	2014-01-08			ENSG00000171067	ENSG00000171067			1174	protein-coding gene	gene with protein product		610880				11401438, 24312644	Standard	NM_022338		Approved	DM4E3	uc001onr.4	Q96F05	OTTHUMG00000167478	ENST00000304271.6:c.25delT	chr11.hg19:g.68031211delA	ENSP00000307264:p.Trp9fs		Q9H2K4	Frame_Shift_Del	DEL	ENST00000304271.6	hg19	CCDS8180.1																																																																																				0.572	C11orf24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394750.1	NM_022338		-	68031211	A	-	68031211	7	5	808	1	0	1	0	1	0	0	0	0	1637	130	5	0	1332	0	C11orf24	11	68031211	Frame_Shift_Del	DEL	A	TCGA-UZ-A9PV-01A-11D-A42J-10	36579386	68031211	66975305	37	48375											
CEP57	9702	hgsc.bcm.edu	37	11	95564230	95564230	+	Missense_Mutation	SNP	A	A	G			TCGA-UZ-A9PV-01A-11D-A42J-10	TCGA-UZ-A9PV-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b0d2ed48-20a7-461b-a05b-356f5c192282	4c8c47c9-9ba8-4f00-a029-5d6e48a25489	g.chr11:95564230A>G	ENST00000325542.5	+	11	1551	c.1313A>G	c.(1312-1314)aAa>aGa	p.K438R	CEP57_ENST00000325486.5_Missense_Mutation_p.K412R|CEP57_ENST00000541150.1_Missense_Mutation_p.K429R|CEP57_ENST00000537677.1_Missense_Mutation_p.K411R	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa	438	Mediates interaction with microtubules. {ECO:0000250}.				fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|mitotic cell cycle (GO:0000278)|protein homooligomerization (GO:0051260)|protein import into nucleus, translocation (GO:0000060)|spermatid development (GO:0007286)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	fibroblast growth factor binding (GO:0017134)|protein homodimerization activity (GO:0042803)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AAGGAATTAAAAGCTACCAAA	0.363									Mosaic Variegated Aneuploidy Syndrome																																							0													57	58	58					11																	95564230		2201	4298	6499	SO:0001583	missense	9702	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	D42054	CCDS8304.1, CCDS58166.1, CCDS58167.1	11q21	2014-09-17			ENSG00000166037	ENSG00000166037			30794	protein-coding gene	gene with protein product		607951				7788527	Standard	NM_014679		Approved	Translokin, TSP57, KIAA0092	uc001pfp.2	Q86XR8	OTTHUMG00000167740	ENST00000325542.5:c.1313A>G	chr11.hg19:g.95564230A>G	ENSP00000317902:p.Lys438Arg		A0PJH1|A8K5D0|B4DDP5|F5H5F7|Q14704|Q5JB46|Q8IXP0|Q9BVF9	Missense_Mutation	SNP	ENST00000325542.5	hg19	CCDS8304.1	.	.	.	.	.	.	.	.	.	.	A	7.425	0.637565	0.14386	.	.	ENSG00000166037	ENST00000537677;ENST00000325542;ENST00000325486;ENST00000541150	T;T;T;T	0.31510	1.49;1.49;1.5;1.49	5.89	-1.61	0.08399	.	0.694506	0.13726	N	0.367032	T	0.16896	0.0406	N	0.12746	0.255	0.09310	N	1	B;B;B	0.12013	0.005;0.0;0.003	B;B;B	0.11329	0.006;0.001;0.004	T	0.26360	-1.0105	10	0.87932	D	0	2.5484	11.7546	0.51868	0.8287:0.0:0.1713:0.0	.	429;412;438	F5H5F7;Q86XR8-2;Q86XR8	.;.;CEP57_HUMAN	R	411;438;412;429	ENSP00000441392:K411R;ENSP00000317902:K438R;ENSP00000317487:K412R;ENSP00000443436:K429R	ENSP00000317487:K412R	K	+	2	0	CEP57	95203878	0.971000	0.33674	0.007000	0.13788	0.813000	0.45954	1.442000	0.35046	-0.125000	0.11703	0.455000	0.32223	AAA		0.363	CEP57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395983.1	NM_014679		G	95564230	A	G	95564230	3	3	808	1	0	0	0	0	1	0	0	0	3258	14	1	3	1355	3	CEP57	11	95564230	Missense_Mutation	SNP	A	TCGA-UZ-A9PV-01A-11D-A42J-10	27533019	95564230	39442286	38	48376											
DYNC2H1	79659	hgsc.bcm.edu	37	11	103126956	103126956	+	Missense_Mutation	SNP	T	T	A			TCGA-UZ-A9PV-01A-11D-A42J-10	TCGA-UZ-A9PV-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b0d2ed48-20a7-461b-a05b-356f5c192282	4c8c47c9-9ba8-4f00-a029-5d6e48a25489	g.chr11:103126956T>A	ENST00000375735.2	+	68	10592	c.10448T>A	c.(10447-10449)aTt>aAt	p.I3483N	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.I3490N|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	3483					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)		AAACTCCAAATTTCCCTTGAT	0.299																																																0													42	41	41					11																	103126956		1802	4066	5868	SO:0001583	missense	79659			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.10448T>A	chr11.hg19:g.103126956T>A	ENSP00000364887:p.Ile3483Asn		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	hg19	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	T	8.238	0.806220	0.16467	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.48201	0.82;0.82	5.32	2.77	0.32553	.	0.485095	0.23779	N	0.044650	T	0.41743	0.1172	L	0.57536	1.79	0.30134	N	0.804506	B;B	0.10296	0.0;0.003	B;B	0.13407	0.002;0.009	T	0.39078	-0.9631	10	0.18710	T	0.47	.	12.8549	0.57880	0.0:0.0:0.3632:0.6368	.	3483;3490	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	N	3483;3490	ENSP00000364887:I3483N;ENSP00000381167:I3490N	ENSP00000364887:I3483N	I	+	2	0	DYNC2H1	102632166	1.000000	0.71417	0.987000	0.45799	0.945000	0.59286	1.972000	0.40540	0.934000	0.37316	0.454000	0.30748	ATT		0.299	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		A	103126956	T	A	103126956	3	1	808	1	0	0	0	0	1	0	0	0	4848	1493	52	5	10743	5	DYNC2H1	11	103126956	Missense_Mutation	SNP	T	TCGA-UZ-A9PV-01A-11D-A42J-10	7562726	103126956	31879560	39	48377											
EXPH5	23086	hgsc.bcm.edu	37	11	108384989	108384989	+	Nonsense_Mutation	SNP	A	A	T			TCGA-UZ-A9PV-01A-11D-A42J-10	TCGA-UZ-A9PV-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b0d2ed48-20a7-461b-a05b-356f5c192282	4c8c47c9-9ba8-4f00-a029-5d6e48a25489	g.chr11:108384989A>T	ENST00000265843.4	-	6	1355	c.1245T>A	c.(1243-1245)taT>taA	p.Y415*	EXPH5_ENST00000525344.1_Nonsense_Mutation_p.Y408*|EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000428840.1_Nonsense_Mutation_p.Y339*|EXPH5_ENST00000443411.1_Nonsense_Mutation_p.Y227*	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	415					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)		GGTACGATTCATATCTCTTAT	0.448																																																0													148	155	152					11																	108384989		2201	4298	6499	SO:0001587	stop_gained	23086				CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"synaptotagmin-like homologue lacking C2 domains b"	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.1245T>A	chr11.hg19:g.108384989A>T	ENSP00000265843:p.Tyr415*		Q2KHM1|Q9Y4D6	Nonsense_Mutation	SNP	ENST00000265843.4	hg19	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.134773	0.77662	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000439956;ENST00000526312;ENST00000533052	.	.	.	5.66	3.36	0.38483	.	0.383998	0.22411	N	0.060404	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.4969	6.9989	0.24799	0.6913:0.0:0.3087:0.0	.	.	.	.	X	415;339;227;408;259;339;227	.	ENSP00000265843:Y415X	Y	-	3	2	EXPH5	107890199	0.149000	0.22717	0.645000	0.29479	0.110000	0.19582	0.320000	0.19540	0.439000	0.26476	-0.415000	0.06103	TAT		0.448	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		T	108384989	A	T	108384989	4	4	808	1	0	0	0	0	0	1	0	0	5324	224	8	5	4728	5	EXPH5	11	108384989	Nonsense_Mutation	SNP	A	TCGA-UZ-A9PV-01A-11D-A42J-10	5258033	108384989	26621527	40	48378											
TULP3	7289	hgsc.bcm.edu	37	12	3000145	3000145	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9PV-01A-11D-A42J-10	TCGA-UZ-A9PV-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b0d2ed48-20a7-461b-a05b-356f5c192282	4c8c47c9-9ba8-4f00-a029-5d6e48a25489	g.chr12:3000145G>A	ENST00000448120.2	+	1	83	c.32G>A	c.(31-33)aGc>aAc	p.S11N	TULP3_ENST00000397132.2_Missense_Mutation_p.S11N	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	tubby like protein 3	11					anterior/posterior pattern specification (GO:0009952)|bone development (GO:0060348)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|central nervous system neuron differentiation (GO:0021953)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic neurocranium morphogenesis (GO:0048702)|G-protein coupled receptor signaling pathway (GO:0007186)|ganglion development (GO:0061548)|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 smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of transcription, DNA-templated (GO:0006355)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cilium (GO:0005929)|extracellular region (GO:0005576)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	enzyme binding (GO:0019899)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)			endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			CTCAGTCCCAGCGGCGACAGG	0.706																																																0													22	24	23					12																	3000145		2194	4298	6492	SO:0001583	missense	7289			AF045583	CCDS8519.1, CCDS53737.1	12p13	2014-02-21			ENSG00000078246	ENSG00000078246		"Intraflagellar transport homologs"	12425	protein-coding gene	gene with protein product		604730				9828123	Standard	NM_003324		Approved	TUBL3	uc001qlj.2	O75386	OTTHUMG00000168152	ENST00000448120.2:c.32G>A	chr12.hg19:g.3000145G>A	ENSP00000410051:p.Ser11Asn		B3KNB7|B7Z6A2|D3DUQ4|F8WBZ9|Q8N5B0	Missense_Mutation	SNP	ENST00000448120.2	hg19	CCDS8519.1	.	.	.	.	.	.	.	.	.	.	G	12.04	1.817250	0.32145	.	.	ENSG00000078246	ENST00000228245;ENST00000448120;ENST00000397132	D;D	0.92495	-3.0;-3.05	4.31	2.45	0.29901	.	2.190990	0.01553	N	0.019778	D	0.87970	0.6312	L	0.38175	1.15	0.80722	D	1	B;B	0.27732	0.118;0.187	B;B	0.24155	0.017;0.051	T	0.71629	-0.4535	10	0.31617	T	0.26	-25.0169	7.0328	0.24977	0.2121:0.0:0.7879:0.0	.	11;11	O75386;F8WBZ9	TULP3_HUMAN;.	N	11	ENSP00000410051:S11N;ENSP00000380321:S11N	ENSP00000228245:S11N	S	+	2	0	TULP3	2870406	0.904000	0.30761	0.543000	0.28128	0.230000	0.25150	1.285000	0.33261	0.547000	0.28938	0.561000	0.74099	AGC		0.706	TULP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398468.1	NM_003324		A	3000145	G	A	3000145	3	1	808	1	0	0	0	0	1	0	0	0	16780	971	34	2	34	2	TULP3	12	3000145	Missense_Mutation	SNP	G	TCGA-UZ-A9PV-01A-11D-A42J-10		3000145	130851750	41	48379											
VWF	7450	hgsc.bcm.edu	37	12	6061618	6061618	+	Frame_Shift_Del	DEL	A	A	-			TCGA-UZ-A9PV-01A-11D-A42J-10	TCGA-UZ-A9PV-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b0d2ed48-20a7-461b-a05b-356f5c192282	4c8c47c9-9ba8-4f00-a029-5d6e48a25489	g.chr12:6061618delA	ENST00000261405.5	-	49	8308	c.8054delT	c.(8053-8055)ttcfs	p.F2685fs		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2685					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)	CTTCTCCCAGAAGTACTCTCC	0.502																																																0													148	126	134					12																	6061618		2203	4300	6503	SO:0001589	frameshift_variant	7450				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.8054delT	chr12.hg19:g.6061618delA	ENSP00000261405:p.Phe2685fs		Q8TCE8|Q99806	Frame_Shift_Del	DEL	ENST00000261405.5	hg19	CCDS8539.1																																																																																				0.502	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		-	6061618	A	-	6061618	7	5	808	1	0	1	0	1	0	0	0	0	17251	246	9	0	403	0	VWF	12	6061618	Frame_Shift_Del	DEL	A	TCGA-UZ-A9PV-01A-11D-A42J-10	3061473	6061618	127790277	42	48380											
DENND5B	160518	hgsc.bcm.edu	37	12	31632918	31632918	+	Missense_Mutation	SNP	A	A	G			TCGA-UZ-A9PV-01A-11D-A42J-10	TCGA-UZ-A9PV-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b0d2ed48-20a7-461b-a05b-356f5c192282	4c8c47c9-9ba8-4f00-a029-5d6e48a25489	g.chr12:31632918A>G	ENST00000389082.5	-	3	773	c.509T>C	c.(508-510)cTt>cCt	p.L170P	DENND5B_ENST00000354285.4_Missense_Mutation_p.L192P|DENND5B_ENST00000536562.1_Missense_Mutation_p.L205P|DENND5B_ENST00000545147.1_Intron|DENND5B_ENST00000306833.6_Missense_Mutation_p.L205P	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	170					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						GAGTTTCAAAAGGGAAGTTGT	0.433																																																0													158	149	152					12																	31632918		1970	4164	6134	SO:0001583	missense	160518			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.509T>C	chr12.hg19:g.31632918A>G	ENSP00000373734:p.Leu170Pro		B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Missense_Mutation	SNP	ENST00000389082.5	hg19	CCDS44857.1	.	.	.	.	.	.	.	.	.	.	A	9.787	1.176857	0.21704	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562;ENST00000354285;ENST00000546299	T;T;T;T;T	0.08807	3.57;3.67;3.67;3.05;3.07	4.65	3.49	0.39957	.	0.357740	0.26582	N	0.023567	T	0.09862	0.0242	L	0.44542	1.39	0.80722	D	1	B;B;B;B;B	0.27192	0.171;0.066;0.171;0.107;0.171	B;B;B;B;B	0.34991	0.193;0.048;0.059;0.065;0.137	T	0.15350	-1.0440	10	0.30078	T	0.28	-26.6622	11.5172	0.50529	0.8497:0.1502:0.0:0.0	.	205;92;192;170;205	Q6ZUT9-2;Q6ZUT9-3;Q6ZUT9-4;Q6ZUT9;G3V1S3	.;.;.;DEN5B_HUMAN;.	P	170;205;205;192;122	ENSP00000373734:L170P;ENSP00000306482:L205P;ENSP00000444889:L205P;ENSP00000346238:L192P;ENSP00000442938:L122P	ENSP00000306482:L205P	L	-	2	0	DENND5B	31524185	1.000000	0.71417	0.730000	0.30809	0.950000	0.60333	6.419000	0.73345	0.795000	0.33922	0.533000	0.62120	CTT		0.433	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1	NM_144973		G	31632918	A	G	31632918	3	3	808	1	0	0	0	0	1	0	0	0	4439	72	3	3	3391	3	DENND5B	12	31632918	Missense_Mutation	SNP	A	TCGA-UZ-A9PV-01A-11D-A42J-10	25571300	31632918	102218977	43	48381											
PTPRB	5787	hgsc.bcm.edu	37	12	71016227	71016227	+	Silent	SNP	A	A	G			TCGA-UZ-A9PV-01A-11D-A42J-10	TCGA-UZ-A9PV-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b0d2ed48-20a7-461b-a05b-356f5c192282	4c8c47c9-9ba8-4f00-a029-5d6e48a25489	g.chr12:71016227A>G	ENST00000550358.1	-	3	676	c.651T>C	c.(649-651)atT>atC	p.I217I	PTPRB_ENST00000551525.1_Silent_p.I216I|PTPRB_ENST00000334414.6_Silent_p.I217I|PTPRB_ENST00000538174.2_5'UTR			P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	0	Fibronectin type-III 3. {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)			ATGTGTCTGTAATTCCAGTCA	0.493																																																0													164	177	172					12																	71016227		2050	4203	6253	SO:0001819	synonymous_variant	5787			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	ENST00000550358.1:c.651T>C	chr12.hg19:g.71016227A>G			B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Silent	SNP	ENST00000550358.1	hg19																																																																																					0.493	PTPRB-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404436.1			G	71016227	A	G	71016227	2	3	808	1	0	0	0	0	0	0	0	1	12802	358	13	3		3	PTPRB	12	71016227	Silent	SNP	A	TCGA-UZ-A9PV-01A-11D-A42J-10	39383309	71016227	62835668	44	48382											
LHX5	64211	hgsc.bcm.edu	37	12	113909298	113909298	+	Missense_Mutation	SNP	C	C	T			TCGA-UZ-A9PV-01A-11D-A42J-10	TCGA-UZ-A9PV-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b0d2ed48-20a7-461b-a05b-356f5c192282	4c8c47c9-9ba8-4f00-a029-5d6e48a25489	g.chr12:113909298C>T	ENST00000261731.3	-	1	579	c.6G>A	c.(4-6)atG>atA	p.M2I	LHX5_ENST00000557836.1_5'UTR|RP11-82C23.2_ENST00000551357.2_RNA	NM_022363.2	NP_071758.1	Q9H2C1	LHX5_HUMAN	LIM homeobox 5	2					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						CGCAGTGCACCATCATAGCCC	0.697																																																0													22	19	20					12																	113909298		2201	4297	6498	SO:0001583	missense	64211			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.6G>A	chr12.hg19:g.113909298C>T	ENSP00000261731:p.Met2Ile		Q32MA4	Missense_Mutation	SNP	ENST00000261731.3	hg19	CCDS9171.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.207726	0.79240	.	.	ENSG00000089116	ENST00000261731	D	0.90676	-2.71	4.04	4.04	0.47022	.	0.000000	0.64402	D	0.000012	D	0.83635	0.5297	L	0.33339	1.005	0.80722	D	1	P	0.41929	0.765	B	0.34180	0.177	T	0.83273	-0.0042	10	0.25106	T	0.35	.	16.3982	0.83630	0.0:1.0:0.0:0.0	.	2	Q9H2C1	LHX5_HUMAN	I	2	ENSP00000261731:M2I	ENSP00000261731:M2I	M	-	3	0	LHX5	112393681	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.722000	0.61958	2.084000	0.62774	0.491000	0.48974	ATG		0.697	LHX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404788.3	NM_022363		T	113909298	C	T	113909298	3	4	808	1	0	0	0	0	1	0	0	0	8776	594	21	2	1222	2	LHX5	12	113909298	Missense_Mutation	SNP	C	TCGA-UZ-A9PV-01A-11D-A42J-10	42893071	113909298	19942597	45	48383											
WDR25	79446	hgsc.bcm.edu	37	14	100847806	100847806	+	Missense_Mutation	SNP	G	G	T			TCGA-UZ-A9PV-01A-11D-A42J-10	TCGA-UZ-A9PV-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b0d2ed48-20a7-461b-a05b-356f5c192282	4c8c47c9-9ba8-4f00-a029-5d6e48a25489	g.chr14:100847806G>T	ENST00000335290.6	+	2	771	c.545G>T	c.(544-546)aGa>aTa	p.R182I	WDR25_ENST00000402312.3_Missense_Mutation_p.R182I|WDR25_ENST00000542471.2_5'Flank|WDR25_ENST00000554998.1_Missense_Mutation_p.R182I|WDR25_ENST00000554175.1_Missense_Mutation_p.R182I	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25	182										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				AGAAGACTAAGACAGCGGCAG	0.552																																																0													81	90	87					14																	100847806		2203	4300	6503	SO:0001583	missense	79446			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.545G>T	chr14.hg19:g.100847806G>T	ENSP00000334148:p.Arg182Ile		A8K7E5|Q6NVV6|Q86TQ4|Q9BTK5	Missense_Mutation	SNP	ENST00000335290.6	hg19	CCDS32157.1	.	.	.	.	.	.	.	.	.	.	G	19.98	3.926450	0.73327	.	.	ENSG00000176473	ENST00000554998;ENST00000402312;ENST00000335290;ENST00000554175	T;T;T;T	0.67523	-0.27;-0.27;-0.27;1.59	5.75	5.75	0.90469	.	0.000000	0.56097	D	0.000030	T	0.80352	0.4607	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.81221	-0.1031	10	0.72032	D	0.01	-27.8569	16.8544	0.86002	0.0:0.0:1.0:0.0	.	182	Q64LD2	WDR25_HUMAN	I	182	ENSP00000450661:R182I;ENSP00000385540:R182I;ENSP00000334148:R182I;ENSP00000450727:R182I	ENSP00000334148:R182I	R	+	2	0	WDR25	99917559	0.490000	0.26012	0.008000	0.14137	0.041000	0.13682	5.365000	0.66116	2.711000	0.92665	0.655000	0.94253	AGA		0.552	WDR25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414312.1	NM_024515		T	100847806	G	T	100847806	3	4	808	1	0	0	0	0	1	0	0	0	17287	942	33	4	547	4	WDR25	14	100847806	Missense_Mutation	SNP	G	TCGA-UZ-A9PV-01A-11D-A42J-10		100847806	6501734	46	48384											
DYNC1H1	1778	hgsc.bcm.edu	37	14	102452422	102452422	+	Missense_Mutation	SNP	C	C	G			TCGA-UZ-A9PV-01A-11D-A42J-10	TCGA-UZ-A9PV-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b0d2ed48-20a7-461b-a05b-356f5c192282	4c8c47c9-9ba8-4f00-a029-5d6e48a25489	g.chr14:102452422C>G	ENST00000360184.4	+	8	2024	c.1860C>G	c.(1858-1860)caC>caG	p.H620Q		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	620	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						AGTCTCTTCACGACAAGTTCA	0.517																																																0													68	57	61					14																	102452422		2203	4300	6503	SO:0001583	missense	1778			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.1860C>G	chr14.hg19:g.102452422C>G	ENSP00000348965:p.His620Gln		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	hg19	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.836491	0.32421	.	.	ENSG00000197102	ENST00000360184	T	0.52754	0.65	5.85	-4.23	0.03789	Dynein heavy chain, domain-1 (1);	0.000000	0.85682	D	0.000000	T	0.41328	0.1154	L	0.38953	1.18	0.58432	D	0.999998	P	0.47604	0.898	P	0.49528	0.614	T	0.39057	-0.9632	10	0.29301	T	0.29	.	15.3766	0.74610	0.0:0.2162:0.0:0.7838	.	620	Q14204	DYHC1_HUMAN	Q	620	ENSP00000348965:H620Q	ENSP00000348965:H620Q	H	+	3	2	DYNC1H1	101522175	0.035000	0.19736	0.804000	0.32291	0.988000	0.76386	-0.917000	0.04025	-0.650000	0.05423	0.655000	0.94253	CAC		0.517	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		G	102452422	C	G	102452422	3	3	808	1	0	0	0	0	1	0	0	0	4843	535	19	4	1890	4	DYNC1H1	14	102452422	Missense_Mutation	SNP	C	TCGA-UZ-A9PV-01A-11D-A42J-10	1604616	102452422	4897118	47	48385											
LOXL1	4016	hgsc.bcm.edu	37	15	74241804	74241804	+	Missense_Mutation	SNP	A	A	C			TCGA-UZ-A9PV-01A-11D-A42J-10	TCGA-UZ-A9PV-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b0d2ed48-20a7-461b-a05b-356f5c192282	4c8c47c9-9ba8-4f00-a029-5d6e48a25489	g.chr15:74241804A>C	ENST00000261921.7	+	6	1933	c.1607A>C	c.(1606-1608)cAc>cCc	p.H536P	LOXL1_ENST00000567675.1_3'UTR	NM_005576.2	NP_005567.2	Q08397	LOXL1_HUMAN	lysyl oxidase-like 1	536	Lysyl-oxidase like.				extracellular matrix organization (GO:0030198)|oxidation-reduction process (GO:0055114)|protein deamination (GO:0018277)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor (GO:0016641)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						CCTCAGGTGCACGTGAACCCA	0.498																																																0													187	180	182					15																	74241804		2198	4297	6495	SO:0001583	missense	4016			L21186	CCDS10253.1	15q24-q25	2008-07-18			ENSG00000129038	ENSG00000129038			6665	protein-coding gene	gene with protein product		153456				7689553	Standard	NM_005576		Approved	LOXL, LOL	uc002awc.1	Q08397	OTTHUMG00000137595	ENST00000261921.7:c.1607A>C	chr15.hg19:g.74241804A>C	ENSP00000261921:p.His536Pro		Q6NUL3|Q96BW7	Missense_Mutation	SNP	ENST00000261921.7	hg19	CCDS10253.1	.	.	.	.	.	.	.	.	.	.	A	11.75	1.732848	0.30684	.	.	ENSG00000129038	ENST00000261921;ENST00000395162	T	0.30182	1.54	5.02	5.02	0.67125	.	0.361157	0.29002	N	0.013455	T	0.18425	0.0442	N	0.14661	0.345	0.31393	N	0.677542	P	0.42584	0.784	B	0.39562	0.303	T	0.12656	-1.0539	10	0.59425	D	0.04	.	9.0722	0.36500	0.8362:0.0:0.0:0.1638	.	536	Q08397	LOXL1_HUMAN	P	536;398	ENSP00000261921:H536P	ENSP00000261921:H536P	H	+	2	0	LOXL1	72028857	0.545000	0.26449	1.000000	0.80357	0.590000	0.36582	3.250000	0.51445	1.880000	0.54463	0.460000	0.39030	CAC		0.498	LOXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268995.2	NM_005576		C	74241804	A	C	74241804	3	2	808	1	0	0	0	0	1	0	0	0	8901	159	6	5	1629	5	LOXL1	15	74241804	Missense_Mutation	SNP	A	TCGA-UZ-A9PV-01A-11D-A42J-10		74241804	28289588	48	48386											
NUDT21	11051	hgsc.bcm.edu	37	16	56473585	56473585	+	Missense_Mutation	SNP	T	T	A			TCGA-UZ-A9PV-01A-11D-A42J-10	TCGA-UZ-A9PV-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b0d2ed48-20a7-461b-a05b-356f5c192282	4c8c47c9-9ba8-4f00-a029-5d6e48a25489	g.chr16:56473585T>A	ENST00000300291.5	-	4	627	c.455A>T	c.(454-456)aAt>aTt	p.N152I		NM_007006.2	NP_008937.1	O43809	CPSF5_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 21	152	Necessary for interactions with PAPOLA and PABPN1.|Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|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)	centrosome (GO:0005813)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	AU-rich element binding (GO:0017091)|histone deacetylase binding (GO:0042826)|hydrolase activity (GO:0016787)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)	7						AGGTTCAAAATTTGGTCTCCA	0.403																																																0													185	189	187					16																	56473585		2198	4300	6498	SO:0001583	missense	11051			AJ001810	CCDS10760.1	16q12.2	2013-06-18	2005-07-11	2005-07-11	ENSG00000167005	ENSG00000167005		"Nudix motif containing"	13870	protein-coding gene	gene with protein product	"cleavage factor Im complex 25 kDa subunit"	604978	"cleavage and polyadenylation specific factor 5, 25 kDa", "cleavage and polyadenylation specific factor 5, 25 kD subunit"	CPSF5		9659921	Standard	NM_007006		Approved	CFIM25	uc002eja.3	O43809	OTTHUMG00000133240	ENST00000300291.5:c.455A>T	chr16.hg19:g.56473585T>A	ENSP00000300291:p.Asn152Ile		Q6IB85|Q6NE84	Missense_Mutation	SNP	ENST00000300291.5	hg19	CCDS10760.1	.	.	.	.	.	.	.	.	.	.	T	29.9	5.044654	0.93685	.	.	ENSG00000167005	ENST00000300291	.	.	.	5.78	5.78	0.91487	NUDIX hydrolase domain (1);	0.040554	0.85682	D	0.000000	D	0.85669	0.5750	M	0.92219	3.285	0.80722	D	1	D	0.71674	0.998	D	0.71870	0.975	D	0.89235	0.3580	9	0.87932	D	0	.	16.1205	0.81351	0.0:0.0:0.0:1.0	.	152	O43809	CPSF5_HUMAN	I	152	.	ENSP00000300291:N152I	N	-	2	0	NUDT21	55031086	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.027000	0.88791	2.205000	0.71048	0.533000	0.62120	AAT		0.403	NUDT21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256980.3	NM_007006		A	56473585	T	A	56473585	3	1	808	1	0	0	0	0	1	0	0	0	10740	1493	52	5	244	5	NUDT21	16	56473585	Missense_Mutation	SNP	T	TCGA-UZ-A9PV-01A-11D-A42J-10		56473585	33881168	49	48387											
FOXL1	2300	hgsc.bcm.edu	37	16	86612503	86612503	+	Silent	SNP	C	C	A			TCGA-UZ-A9PV-01A-11D-A42J-10	TCGA-UZ-A9PV-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b0d2ed48-20a7-461b-a05b-356f5c192282	4c8c47c9-9ba8-4f00-a029-5d6e48a25489	g.chr16:86612503C>A	ENST00000320241.3	+	1	389	c.174C>A	c.(172-174)atC>atA	p.I58I		NM_005250.2	NP_005241.1	Q12952	FOXL1_HUMAN	forkhead box L1	58					heart development (GO:0007507)|multicellular organismal development (GO:0007275)|organ morphogenesis (GO:0009887)|Peyer's patch morphogenesis (GO:0061146)|proteoglycan biosynthetic process (GO:0030166)|regulation of Wnt signaling pathway (GO:0030111)|transcription, DNA-templated (GO:0006351)|visceral mesoderm-endoderm interaction involved in midgut development (GO:0007495)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1)	15						TCGCGCTCATCGCCATGGCGA	0.677																																					NSCLC(163;308 2020 10889 11476 18208)											0													60	61	61					16																	86612503		2198	4300	6498	SO:0001819	synonymous_variant	2300			AF315075	CCDS10959.1	16q24	2014-07-15			ENSG00000176678	ENSG00000176678		"Forkhead boxes"	3817	protein-coding gene	gene with protein product		603252		FKHL11		7957066	Standard	NM_005250		Approved	FREAC7, FKH6	uc002fjr.3	Q12952	OTTHUMG00000137653	ENST00000320241.3:c.174C>A	chr16.hg19:g.86612503C>A			Q17RR1|Q9H242	Silent	SNP	ENST00000320241.3	hg19	CCDS10959.1																																																																																				0.677	FOXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269105.2	NM_005250		A	86612503	C	A	86612503	2	1	808	1	0	0	0	0	0	0	0	1	6018	874	31	4		4	FOXL1	16	86612503	Silent	SNP	C	TCGA-UZ-A9PV-01A-11D-A42J-10	30138918	86612503	3742250	50	48388											
SMG6	23293	hgsc.bcm.edu	37	17	2185973	2185973	+	Missense_Mutation	SNP	C	C	T			TCGA-UZ-A9PV-01A-11D-A42J-10	TCGA-UZ-A9PV-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b0d2ed48-20a7-461b-a05b-356f5c192282	4c8c47c9-9ba8-4f00-a029-5d6e48a25489	g.chr17:2185973C>T	ENST00000263073.6	-	8	2679	c.2629G>A	c.(2629-2631)Gag>Aag	p.E877K	SMG6_ENST00000544865.1_Missense_Mutation_p.E846K	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	877					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						AGCCCATTCTCTTGCTCAGAA	0.542																																					Melanoma(59;28 1088 11621 25887 46638 50814)											0													159	144	149					17																	2185973		2203	4300	6503	SO:0001583	missense	23293			AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"EST1 telomerase component homolog A (S. cerevisiae)"	610963	"chromosome 17 open reading frame 31", "smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.2629G>A	chr17.hg19:g.2185973C>T	ENSP00000263073:p.Glu877Lys		B7Z874|O94837|Q86VH6|Q9UF60	Missense_Mutation	SNP	ENST00000263073.6	hg19	CCDS11016.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.490176	0.44249	.	.	ENSG00000070366	ENST00000263073;ENST00000544865	T;T	0.27256	1.68;1.68	5.55	5.55	0.83447	.	0.062061	0.64402	D	0.000004	T	0.22475	0.0542	L	0.38175	1.15	0.37547	D	0.918554	P	0.38677	0.642	B	0.37508	0.252	T	0.07849	-1.0751	10	0.36615	T	0.2	-12.2888	14.4148	0.67142	0.1475:0.8525:0.0:0.0	.	877	Q86US8	EST1A_HUMAN	K	877;846	ENSP00000263073:E877K;ENSP00000443920:E846K	ENSP00000263073:E877K	E	-	1	0	SMG6	2132723	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.269000	0.65542	2.615000	0.88500	0.555000	0.69702	GAG		0.542	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3			T	2185973	C	T	2185973	3	4	808	1	0	0	0	0	1	0	0	0	14803	922	32	2	1678	2	SMG6	17	2185973	Missense_Mutation	SNP	C	TCGA-UZ-A9PV-01A-11D-A42J-10		2185973	79009237	51	48389											
OR1A1	8383	hgsc.bcm.edu	37	17	3119607	3119607	+	Missense_Mutation	SNP	G	G	T			TCGA-UZ-A9PV-01A-11D-A42J-10	TCGA-UZ-A9PV-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b0d2ed48-20a7-461b-a05b-356f5c192282	4c8c47c9-9ba8-4f00-a029-5d6e48a25489	g.chr17:3119607G>T	ENST00000304094.1	+	1	693	c.693G>T	c.(691-693)aaG>aaT	p.K231N		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	231						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						CTTCCACCAAGGGCGTGCTCA	0.488																																																0													217	191	199					17																	3119607		2203	4300	6503	SO:0001583	missense	8383			AF087918	CCDS11022.1	17p13.3	2012-08-09			ENSG00000172146	ENSG00000172146		"GPCR / Class A : Olfactory receptors"	8179	protein-coding gene	gene with protein product						10673334	Standard	NM_014565		Approved	OR17-7	uc010vrc.2	Q9P1Q5	OTTHUMG00000090637	ENST00000304094.1:c.693G>T	chr17.hg19:g.3119607G>T	ENSP00000305207:p.Lys231Asn		A5D914|Q6IFM1|Q6NTA9|Q96R87	Missense_Mutation	SNP	ENST00000304094.1	hg19	CCDS11022.1	.	.	.	.	.	.	.	.	.	.	G	11.62	1.693103	0.30052	.	.	ENSG00000172146	ENST00000304094	T	0.00145	8.67	4.96	-0.611	0.11601	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000052	T	0.00271	0.0008	M	0.65320	2	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.51276	-0.8726	10	0.46703	T	0.11	.	4.3539	0.11169	0.3002:0.0:0.4654:0.2344	.	231	Q9P1Q5	OR1A1_HUMAN	N	231	ENSP00000305207:K231N	ENSP00000305207:K231N	K	+	3	2	OR1A1	3066357	0.998000	0.40836	0.960000	0.40013	0.312000	0.27988	0.687000	0.25407	0.303000	0.22785	0.436000	0.28706	AAG		0.488	OR1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207292.1	NM_014565		T	3119607	G	T	3119607	3	4	808	1	0	0	0	0	1	0	0	0	10951	991	35	4	695	4	OR1A1	17	3119607	Missense_Mutation	SNP	G	TCGA-UZ-A9PV-01A-11D-A42J-10	933634	3119607	78075603	52	48390											
CAMKK1	84254	hgsc.bcm.edu	37	17	3786457	3786457	+	Frame_Shift_Del	DEL	G	G	-			TCGA-UZ-A9PV-01A-11D-A42J-10	TCGA-UZ-A9PV-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b0d2ed48-20a7-461b-a05b-356f5c192282	4c8c47c9-9ba8-4f00-a029-5d6e48a25489	g.chr17:3786457delG	ENST00000348335.2	-	6	675	c.527delC	c.(526-528)ccgfs	p.P176fs	CAMKK1_ENST00000158166.5_Frame_Shift_Del_p.P176fs|CAMKK1_ENST00000381771.2_Frame_Shift_Del_p.P176fs|CAMKK1_ENST00000381769.2_Frame_Shift_Del_p.P203fs	NM_032294.2	NP_115670.1	Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase kinase 1, alpha	176	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|RP domain.				synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		GGACCCTCTCGGGGGAGGGCG	0.627																																																0													60	59	59					17																	3786457		2203	4300	6503	SO:0001589	frameshift_variant	84254			AL136576	CCDS11038.1, CCDS11039.1	17p13.3	2004-02-18			ENSG00000004660	ENSG00000004660			1469	protein-coding gene	gene with protein product		611411				11230166	Standard	NM_172207		Approved	DKFZp761M0423, CAMKKA, MGC34095	uc002fwt.3	Q8N5S9	OTTHUMG00000090725	ENST00000348335.2:c.527delC	chr17.hg19:g.3786457delG	ENSP00000323118:p.Pro176fs		Q9BQH3	Frame_Shift_Del	DEL	ENST00000348335.2	hg19	CCDS11038.1																																																																																				0.627	CAMKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207456.1	NM_032294, NM_172206, NM_172207		-	3786457	G	-	3786457	7	5	808	1	0	1	0	1	0	0	0	0	2608	1116	39	0	1156	0	CAMKK1	17	3786457	Frame_Shift_Del	DEL	G	TCGA-UZ-A9PV-01A-11D-A42J-10	666850	3786457	77408753	53	48391											
ACACA	31	hgsc.bcm.edu	37	17	35549238	35549238	+	Missense_Mutation	SNP	C	C	A			TCGA-UZ-A9PV-01A-11D-A42J-10	TCGA-UZ-A9PV-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b0d2ed48-20a7-461b-a05b-356f5c192282	4c8c47c9-9ba8-4f00-a029-5d6e48a25489	g.chr17:35549238C>A	ENST00000394406.2	-	37	4288	c.4098G>T	c.(4096-4098)gaG>gaT	p.E1366D	ACACA_ENST00000335166.5_Missense_Mutation_p.E1288D|ACACA_ENST00000353139.5_Missense_Mutation_p.E1403D|ACACA_ENST00000360679.3_Missense_Mutation_p.E1308D	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1366					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)	AGATACGATCCTCCTCAAACT	0.403																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)											0													48	44	46					17																	35549238		2203	4300	6503	SO:0001583	missense	31			U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 1"	200350	"acetyl-Coenzyme A carboxylase alpha"	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.4098G>T	chr17.hg19:g.35549238C>A	ENSP00000377928:p.Glu1366Asp		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	hg19	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.676844	0.67928	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000427330	D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7	5.68	-0.978	0.10279	Acetyl-CoA carboxylase, central domain (1);	0.048932	0.85682	D	0.000000	D	0.90851	0.7126	M	0.91872	3.25	0.80722	D	1	D;D;D;D	0.89917	0.999;0.99;1.0;0.999	D;D;D;D	0.79784	0.98;0.911;0.993;0.982	D	0.90220	0.4271	10	0.87932	D	0	-18.278	10.9907	0.47547	0.0:0.4713:0.0:0.5287	.	114;1403;1366;1308	F8W6G0;Q13085-4;Q13085;Q13085-2	.;.;ACACA_HUMAN;.	D	1403;1308;1366;1390;1288;114	ENSP00000344789:E1403D;ENSP00000353898:E1308D;ENSP00000377928:E1366D;ENSP00000335323:E1288D	ENSP00000335323:E1288D	E	-	3	2	ACACA	32623351	0.976000	0.34144	1.000000	0.80357	0.992000	0.81027	0.180000	0.16860	-0.026000	0.13895	-0.355000	0.07637	GAG		0.403	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		A	35549238	C	A	35549238	3	1	808	1	0	0	0	0	1	0	0	0	106	680	24	4	3022	4	ACACA	17	35549238	Missense_Mutation	SNP	C	TCGA-UZ-A9PV-01A-11D-A42J-10	31762781	35549238	45645972	54	48392											
BPTF	2186	hgsc.bcm.edu	37	17	65919081	65919082	+	Frame_Shift_Ins	INS	-	-	G			TCGA-UZ-A9PV-01A-11D-A42J-10	TCGA-UZ-A9PV-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b0d2ed48-20a7-461b-a05b-356f5c192282	4c8c47c9-9ba8-4f00-a029-5d6e48a25489	g.chr17:65919081_65919082insG	ENST00000321892.4	+	16	6122_6123	c.6061_6062insG	c.(6061-6063)tggfs	p.W2021fs	BPTF_ENST00000424123.3_Frame_Shift_Ins_p.W1882fs|BPTF_ENST00000306378.6_Frame_Shift_Ins_p.W1895fs|BPTF_ENST00000335221.5_Frame_Shift_Ins_p.W2021fs			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2021					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)			ACTGGAATTGTGGGAGATCAGG	0.411																																																0																																										SO:0001589	frameshift_variant	2186			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"Zinc fingers, PHD-type"	3581	protein-coding gene	gene with protein product		601819	"fetal Alzheimer antigen"	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.6064dupG	chr17.hg19:g.65919084_65919084dupG	ENSP00000315454:p.Trp2021fs		Q6NX67|Q7Z7D6|Q9UIG2	Frame_Shift_Ins	INS	ENST00000321892.4	hg19																																																																																					0.411	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		G	65919082	-	G	65919081	7	5	808	1	0	1	1	0	0	0	0	0	1497	1696	59	0	6123	0	BPTF	17	65919081	Frame_Shift_Ins	INS	-	TCGA-UZ-A9PV-01A-11D-A42J-10	30369843	65919081	15276129	55	48393											
CACNA1A	773	hgsc.bcm.edu	37	19	13409851	13409851	+	Missense_Mutation	SNP	C	C	G			TCGA-UZ-A9PV-01A-11D-A42J-10	TCGA-UZ-A9PV-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b0d2ed48-20a7-461b-a05b-356f5c192282	4c8c47c9-9ba8-4f00-a029-5d6e48a25489	g.chr19:13409851C>G	ENST00000360228.5	-	19	2595	c.2596G>C	c.(2596-2598)Gat>Cat	p.D866H	CACNA1A_ENST00000573710.2_Missense_Mutation_p.D867H	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	867					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	CGGGCCCGATCGTGGTAGCGG	0.741																																																0													10	13	12					19																	13409851		1849	4035	5884	SO:0001583	missense	773			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.2596G>C	chr19.hg19:g.13409851C>G	ENSP00000353362:p.Asp866His		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	hg19	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	C	5.552	0.286812	0.10513	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.95724	-3.79	3.09	2.04	0.26737	.	3.396480	0.00857	N	0.001886	D	0.95043	0.8395	N	0.14661	0.345	0.21105	N	0.999782	P;P;D	0.76494	0.929;0.946;0.999	B;P;D	0.69654	0.414;0.667;0.965	D	0.87123	0.2192	10	0.46703	T	0.11	.	8.9031	0.35507	0.0:0.8807:0.0:0.1193	.	867;870;866	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	H	866;870;867;867	ENSP00000353362:D866H	ENSP00000317661:D867H	D	-	1	0	CACNA1A	13270851	0.893000	0.30496	0.385000	0.26158	0.002000	0.02628	1.730000	0.38125	0.296000	0.22592	-0.481000	0.04817	GAT		0.741	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		G	13409851	C	G	13409851	3	3	808	1	0	0	0	0	1	0	0	0	2540	884	31	4	5142	4	CACNA1A	19	13409851	Missense_Mutation	SNP	C	TCGA-UZ-A9PV-01A-11D-A42J-10		13409851	45719132	56	48394											
KCNN1	3780	hgsc.bcm.edu	37	19	18096236	18096240	+	Frame_Shift_Del	DEL	GGTGT	GGTGT	-			TCGA-UZ-A9PV-01A-11D-A42J-10	TCGA-UZ-A9PV-10A-01D-A42M-10	GGTGT	GGTGT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b0d2ed48-20a7-461b-a05b-356f5c192282	4c8c47c9-9ba8-4f00-a029-5d6e48a25489	g.chr19:18096236_18096240delGGTGT	ENST00000222249.9	+	6	1352_1356	c.1033_1037delGGTGT	c.(1033-1038)ggtgtgfs	p.GV345fs		NM_002248.3	NP_002239.2	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1	345					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)	CTGCGGGAAGGGTGTGTGCCTGCTC	0.6																																																0																																										SO:0001589	frameshift_variant	3780			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.1033_1037delGGTGT	chr19.hg19:g.18096236_18096240delGGTGT	ENSP00000476519:p.Gly345fs		Q5KR10|Q6DJU4	Frame_Shift_Del	DEL	ENST00000222249.9	hg19																																																																																					0.6	KCNN1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471896.2	NM_002248		-	18096240	GGTGT	-	18096236	7	5	808	1	0	1	0	1	0	0	0	0	8080	1232	43	0	1047	0	KCNN1	19	18096236	Frame_Shift_Del	DEL	GGTGT	TCGA-UZ-A9PV-01A-11D-A42J-10	4686385	18096236	41032747	57	48395											
ZNF792	126375	hgsc.bcm.edu	37	19	35450319	35450319	+	Frame_Shift_Del	DEL	A	A	-			TCGA-UZ-A9PV-01A-11D-A42J-10	TCGA-UZ-A9PV-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b0d2ed48-20a7-461b-a05b-356f5c192282	4c8c47c9-9ba8-4f00-a029-5d6e48a25489	g.chr19:35450319delA	ENST00000404801.1	-	4	826	c.440delT	c.(439-441)ttgfs	p.L147fs	ZNF792_ENST00000605484.1_Frame_Shift_Del_p.L80fs	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	147					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)			GTGTTCAGCCAAATGCAAAAT	0.522																																					GBM(1;7 183 21053 22581 22847)											0													196	188	191					19																	35450319		2203	4300	6503	SO:0001589	frameshift_variant	126375			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.440delT	chr19.hg19:g.35450319delA	ENSP00000385099:p.Leu147fs		B4E333|Q495L1|Q495L3|Q8N932	Frame_Shift_Del	DEL	ENST00000404801.1	hg19	CCDS12440.2																																																																																				0.522	ZNF792-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317673.1	NM_175872		-	35450319	A	-	35450319	7	5	808	1	0	1	0	1	0	0	0	0	18169	131	5	0	1462	0	ZNF792	19	35450319	Frame_Shift_Del	DEL	A	TCGA-UZ-A9PV-01A-11D-A42J-10	17354083	35450319	23678664	58	48396											
FBL	2091	hgsc.bcm.edu	37	19	40328472	40328472	+	Silent	SNP	G	G	A			TCGA-UZ-A9PV-01A-11D-A42J-10	TCGA-UZ-A9PV-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b0d2ed48-20a7-461b-a05b-356f5c192282	4c8c47c9-9ba8-4f00-a029-5d6e48a25489	g.chr19:40328472G>A	ENST00000221801.3	-	6	674	c.561C>T	c.(559-561)gtC>gtT	p.V187V	FBL_ENST00000593503.1_5'UTR	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	187					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)		CGACTGCATAGACTAGACCAT	0.458																																																0													92	74	80					19																	40328472		2203	4300	6503	SO:0001819	synonymous_variant	2091			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.561C>T	chr19.hg19:g.40328472G>A			B5BUE8|O75259|Q6IAT5|Q9UPI6	Silent	SNP	ENST00000221801.3	hg19	CCDS12545.1																																																																																				0.458	FBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462509.4	NM_001436		A	40328472	G	A	40328472	2	1	808	1	0	0	0	0	0	0	0	1	5698	929	33	2		2	FBL	19	40328472	Silent	SNP	G	TCGA-UZ-A9PV-01A-11D-A42J-10	4878153	40328472	18800511	59	48397											
CNOT3	4849	hgsc.bcm.edu	37	19	54647753	54647753	+	Silent	SNP	G	G	C			TCGA-UZ-A9PV-01A-11D-A42J-10	TCGA-UZ-A9PV-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b0d2ed48-20a7-461b-a05b-356f5c192282	4c8c47c9-9ba8-4f00-a029-5d6e48a25489	g.chr19:54647753G>C	ENST00000406403.1	+	5	1873	c.270G>C	c.(268-270)cgG>cgC	p.R90R	CNOT3_ENST00000221232.5_Silent_p.R90R|CNOT3_ENST00000358389.3_5'UTR			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	90					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					AAATGGAACGGTTCAAAGTTG	0.557																																																0													84	85	85					19																	54647753		2203	4300	6503	SO:0001819	synonymous_variant	4849			AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"NOT3 (negative regulator of transcription 3, yeast) homolog"	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.270G>C	chr19.hg19:g.54647753G>C			Q9NZN7|Q9UF76	Silent	SNP	ENST00000406403.1	hg19	CCDS12880.1	.	.	.	.	.	.	.	.	.	.	G	8.775	0.926919	0.18056	.	.	ENSG00000088038	ENST00000440571	.	.	.	5.28	3.09	0.35607	.	.	.	.	.	T	0.59797	0.2220	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57376	-0.7822	4	.	.	.	-32.5338	10.2659	0.43455	0.0767:0.0:0.7851:0.1382	.	.	.	.	A	11	.	.	G	+	2	0	CNOT3	59339565	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.712000	0.25779	1.349000	0.45751	-0.182000	0.12963	GGT		0.557	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	NM_014516		C	54647753	G	C	54647753	2	2	808	1	0	0	0	0	0	0	0	1	3622	1248	44	4		4	CNOT3	19	54647753	Silent	SNP	G	TCGA-UZ-A9PV-01A-11D-A42J-10	14319281	54647753	4481230	60	48398											
ZNF335	63925	hgsc.bcm.edu	37	20	44581108	44581108	+	Missense_Mutation	SNP	C	C	A			TCGA-UZ-A9PV-01A-11D-A42J-10	TCGA-UZ-A9PV-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b0d2ed48-20a7-461b-a05b-356f5c192282	4c8c47c9-9ba8-4f00-a029-5d6e48a25489	g.chr20:44581108C>A	ENST00000322927.2	-	20	2967	c.2867G>T	c.(2866-2868)gGt>gTt	p.G956V	ZNF335_ENST00000426788.1_Missense_Mutation_p.G801V	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	956					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)				CCATTTGGCACCAGAGGCCAG	0.627																																																0													50	55	53					20																	44581108		2203	4300	6503	SO:0001583	missense	63925			AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"Zinc fingers, C2H2-type"	15807	protein-coding gene	gene with protein product	"NRC-interacting factor 1"	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.2867G>T	chr20.hg19:g.44581108C>A	ENSP00000325326:p.Gly956Val		B4DLG7|Q548D0|Q9H684	Missense_Mutation	SNP	ENST00000322927.2	hg19	CCDS13389.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.145579	0.57044	.	.	ENSG00000198026	ENST00000322927;ENST00000243961;ENST00000426788	T;T	0.09255	3.14;3.0	4.7	3.74	0.42951	.	0.181866	0.38663	N	0.001613	T	0.18800	0.0451	N	0.24115	0.695	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.01988	-1.1234	10	0.52906	T	0.07	-8.9973	12.4133	0.55480	0.0:0.831:0.169:0.0	.	801;956	Q9H4Z2-2;Q9H4Z2	.;ZN335_HUMAN	V	956;733;801	ENSP00000325326:G956V;ENSP00000397098:G801V	ENSP00000243961:G733V	G	-	2	0	ZNF335	44014515	0.009000	0.17119	0.998000	0.56505	0.975000	0.68041	1.170000	0.31883	1.164000	0.42652	0.561000	0.74099	GGT		0.627	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1	NM_022095		A	44581108	C	A	44581108	3	1	808	1	0	0	0	0	1	0	0	0	17857	507	18	4	1197	4	ZNF335	20	44581108	Missense_Mutation	SNP	C	TCGA-UZ-A9PV-01A-11D-A42J-10		44581108	18444412	61	48399											
ITSN1	6453	hgsc.bcm.edu	37	21	35208937	35208937	+	Splice_Site	SNP	G	G	A			TCGA-UZ-A9PV-01A-11D-A42J-10	TCGA-UZ-A9PV-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b0d2ed48-20a7-461b-a05b-356f5c192282	4c8c47c9-9ba8-4f00-a029-5d6e48a25489	g.chr21:35208937G>A	ENST00000381318.3	+	29	3949		c.e29+1		AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000381285.4_Splice_Site|ITSN1_ENST00000399326.3_Splice_Site|ITSN1_ENST00000399352.1_Splice_Site|ITSN1_ENST00000399353.1_Splice_Site|ITSN1_ENST00000399349.1_Splice_Site|ITSN1_ENST00000399367.3_Splice_Site|ITSN1_ENST00000437442.2_Splice_Site|ITSN1_ENST00000379960.5_Splice_Site|ITSN1_ENST00000381291.4_Splice_Site|ITSN1_ENST00000399355.2_Splice_Site	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)						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						AGCCAGCAATGTAAGTGCCCT	0.507																																																0													90	81	84					21																	35208937		2203	4300	6503	SO:0001630	splice_region_variant	6453			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.3661+1G>A	chr21.hg19:g.35208937G>A			A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Splice_Site	SNP	ENST00000381318.3	hg19	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.456766	0.63401	.	.	ENSG00000205726	ENST00000381318;ENST00000381285;ENST00000381288;ENST00000399367;ENST00000437442	.	.	.	4.51	4.51	0.55191	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2445	0.87023	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ITSN1	34130807	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.278000	0.95766	2.059000	0.61396	0.637000	0.83480	.		0.507	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024	Intron	A	35208937	G	A	35208937	5	1	808	1	0	0	0	0	0	0	1	0	7928	1391	48	2	3772	2	ITSN1	21	35208937	Splice_Site	SNP	G	TCGA-UZ-A9PV-01A-11D-A42J-10		35208937	12920958	62	48400											
CCT8L2	150160	hgsc.bcm.edu	37	22	17073027	17073027	+	Silent	SNP	C	C	T			TCGA-UZ-A9PV-01A-11D-A42J-10	TCGA-UZ-A9PV-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b0d2ed48-20a7-461b-a05b-356f5c192282	4c8c47c9-9ba8-4f00-a029-5d6e48a25489	g.chr22:17073027C>T	ENST00000359963.3	-	1	673	c.414G>A	c.(412-414)acG>acA	p.T138T		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	138					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)				CTGCAGTGGCCGTGGCGTAGG	0.637																																																0													46	43	44					22																	17073027		2203	4300	6503	SO:0001819	synonymous_variant	150160			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.414G>A	chr22.hg19:g.17073027C>T			A4QPH3|Q9UJS3	Silent	SNP	ENST00000359963.3	hg19	CCDS13738.1																																																																																				0.637	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			T	17073027	C	T	17073027	2	4	808	1	0	0	0	0	0	0	0	1	2963	639	23	1		1	CCT8L2	22	17073027	Silent	SNP	C	TCGA-UZ-A9PV-01A-11D-A42J-10		17073027	34231539	63	48401											
FOXO4	4303	hgsc.bcm.edu	37	X	70316598	70316598	+	Missense_Mutation	SNP	C	C	A			TCGA-UZ-A9PV-01A-11D-A42J-10	TCGA-UZ-A9PV-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b0d2ed48-20a7-461b-a05b-356f5c192282	4c8c47c9-9ba8-4f00-a029-5d6e48a25489	g.chrX:70316598C>A	ENST00000374259.3	+	1	552	c.220C>A	c.(220-222)Cca>Aca	p.P74T	FOXO4_ENST00000341558.3_Intron|FOXO4_ENST00000466874.1_Intron	NM_001170931.1|NM_005938.3	NP_001164402.1|NP_005929.2	P98177	FOXO4_HUMAN	forkhead box O4	74				P -> S (in Ref. 2; CAA63819). {ECO:0000305}.	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)					CTCTCGGCTCCCAGAGCCGGC	0.677																																																0													9	10	10					X																	70316598		1789	4009	5798	SO:0001583	missense	4303				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.220C>A	chrX.hg19:g.70316598C>A	ENSP00000363377:p.Pro74Thr		B7WPJ7|O43821|Q13720|Q3KPF1|Q8TDK9	Missense_Mutation	SNP	ENST00000374259.3	hg19	CCDS43969.1	.	.	.	.	.	.	.	.	.	.	C	6.735	0.504472	0.12822	.	.	ENSG00000184481	ENST00000374259	D	0.94862	-3.54	4.83	4.83	0.62350	.	0.677789	0.13613	N	0.374986	D	0.90469	0.7015	L	0.43152	1.355	0.80722	D	1	P;P	0.39809	0.689;0.509	B;B	0.34590	0.186;0.04	D	0.87734	0.2581	10	0.15499	T	0.54	-3.4079	14.6543	0.68823	0.0:1.0:0.0:0.0	.	74;74	B4DTB6;P98177	.;FOXO4_HUMAN	T	74	ENSP00000363377:P74T	ENSP00000363377:P74T	P	+	1	0	FOXO4	70233323	0.976000	0.34144	1.000000	0.80357	0.137000	0.21094	2.530000	0.45641	2.130000	0.65690	0.594000	0.82650	CCA		0.677	FOXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057115.1	NM_005938		A	70316598	C	A	70316598	3	1	808	1	0	0	0	0	1	0	0	0	6027	623	22	4	222	4	FOXO4	23	70316598	Missense_Mutation	SNP	C	TCGA-UZ-A9PV-01A-11D-A42J-10		70316598	84953962	64	48402											
GMEB1	10691	hgsc.bcm.edu	37	1	29037152	29037152	+	Missense_Mutation	SNP	C	C	A			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr1:29037152C>A	ENST00000294409.2	+	9	1109	c.1019C>A	c.(1018-1020)aCa>aAa	p.T340K	GMEB1_ENST00000480454.1_3'UTR|GMEB1_ENST00000373816.1_Missense_Mutation_p.T330K|GMEB1_ENST00000361872.4_Missense_Mutation_p.T330K	NM_006582.3	NP_006573.2	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1	340					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		TATACTCTGACAGGTATGTAT	0.378																																																0													162	144	150					1																	29037152		2203	4300	6503	SO:0001583	missense	10691			AF099013	CCDS327.1, CCDS328.1	1p35	2008-02-05			ENSG00000162419	ENSG00000162419			4370	protein-coding gene	gene with protein product		604409				10386584, 10523663	Standard	NM_006582		Approved	P96PIF, PIF96	uc001bra.3	Q9Y692	OTTHUMG00000003647	ENST00000294409.2:c.1019C>A	chr1.hg19:g.29037152C>A	ENSP00000294409:p.Thr340Lys		B1AT48|Q9NWH1|Q9UKD0	Missense_Mutation	SNP	ENST00000294409.2	hg19	CCDS327.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.303791	0.60305	.	.	ENSG00000162419	ENST00000373816;ENST00000456852;ENST00000361872;ENST00000294409	T;T;T	0.54279	0.58;0.58;0.58	5.52	5.52	0.82312	.	0.273025	0.41500	D	0.000870	T	0.48995	0.1531	L	0.50333	1.59	0.29901	N	0.824419	B;B	0.27498	0.023;0.18	B;B	0.19946	0.015;0.027	T	0.48864	-0.8997	10	0.36615	T	0.2	-8.9719	18.278	0.90089	0.0:1.0:0.0:0.0	.	340;330	Q9Y692;B1AT47	GMEB1_HUMAN;.	K	330;306;330;340	ENSP00000362922:T330K;ENSP00000355186:T330K;ENSP00000294409:T340K	ENSP00000294409:T340K	T	+	2	0	GMEB1	28909739	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	4.712000	0.61888	2.609000	0.88269	0.650000	0.86243	ACA		0.378	GMEB1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000010333.1	NM_006582		A	29037152	C	A	29037152	3	1	809	1	0	0	0	0	1	0	0	0	6489	478	17	4	1049	4	GMEB1	1	29037152	Missense_Mutation	SNP	C	TCGA-UZ-A9PX-01A-11D-A42J-10		29037152	220213469	1	48403											
ZMYM6	9204	hgsc.bcm.edu	37	1	35457924	35457924	+	Nonsense_Mutation	SNP	A	A	C			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr1:35457924A>C	ENST00000357182.4	-	15	2284	c.2057T>G	c.(2056-2058)tTa>tGa	p.L686*	ZMYM6_ENST00000487874.1_Nonsense_Mutation_p.L686*|ZMYM6_ENST00000373340.2_Nonsense_Mutation_p.L686*|ZMYM6_ENST00000493328.1_5'UTR	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	686					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)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				TTTGTTCTTTAAAAGCCTGGA	0.408																																																0													209	193	198					1																	35457924		2203	4300	6503	SO:0001587	stop_gained	9204			AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"Zinc fingers, MYM type", "Zinc fingers, BED-type"	13050	protein-coding gene	gene with protein product	"zinc finger, BED-type containing 7"	613567	"zinc finger protein 258", "zinc finger, MYM-type containing 6"	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.2057T>G	chr1.hg19:g.35457924A>C	ENSP00000349708:p.Leu686*		B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Nonsense_Mutation	SNP	ENST00000357182.4	hg19	CCDS387.2	.	.	.	.	.	.	.	.	.	.	A	39	7.609622	0.98387	.	.	ENSG00000163867	ENST00000373340;ENST00000357182	.	.	.	4.47	4.47	0.54385	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.6736	13.8694	0.63610	1.0:0.0:0.0:0.0	.	.	.	.	X	686	.	ENSP00000349708:L686X	L	-	2	0	ZMYM6	35230511	1.000000	0.71417	0.941000	0.38009	0.897000	0.52465	3.726000	0.54977	2.009000	0.58944	0.477000	0.44152	TTA		0.408	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011999.1	NM_007167		C	35457924	A	C	35457924	4	2	809	1	0	0	0	0	0	1	0	0	17709	372	13	5	1928	5	ZMYM6	1	35457924	Nonsense_Mutation	SNP	A	TCGA-UZ-A9PX-01A-11D-A42J-10	6420772	35457924	213792697	2	48404											
NFYC	4802	hgsc.bcm.edu	37	1	41228712	41228712	+	Missense_Mutation	SNP	G	G	C			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr1:41228712G>C	ENST00000308733.5	+	6	720	c.714G>C	c.(712-714)caG>caC	p.Q238H	NFYC_ENST00000447388.3_Missense_Mutation_p.Q238H|NFYC_ENST00000372651.1_Missense_Mutation_p.Q238H|NFYC_ENST00000427410.2_Missense_Mutation_p.Q200H|NFYC_ENST00000456393.2_Missense_Mutation_p.Q238H|NFYC_ENST00000425457.2_Missense_Mutation_p.Q238H|NFYC_ENST00000440226.3_Missense_Mutation_p.Q238H|NFYC_ENST00000372652.1_Missense_Mutation_p.Q238H|NFYC_ENST00000372654.1_Missense_Mutation_p.Q238H|NFYC_ENST00000372653.1_Missense_Mutation_p.Q204H			Q13952	NFYC_HUMAN	nuclear transcription factor Y, gamma	238					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription, DNA-templated (GO:0045893)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)			AGATCCAGCAGATCCCGGTGA	0.448																																																0													58	54	56					1																	41228712		2203	4300	6503	SO:0001583	missense	4802			U78774	CCDS455.1, CCDS44120.1, CCDS44121.1, CCDS44122.1, CCDS44123.1	1p32	2008-11-11			ENSG00000066136	ENSG00000066136			7806	protein-coding gene	gene with protein product		605344				8921405, 9249075	Standard	NM_014223		Approved	CBF-C, NF-YC	uc009vwd.3	Q13952	OTTHUMG00000007729	ENST00000308733.5:c.714G>C	chr1.hg19:g.41228712G>C	ENSP00000312617:p.Gln238His		B4DUS6|B4DW63|D3DPV9|F8VWM3|Q59GY4|Q5T6K8|Q5T6K9|Q5T6L1|Q5TZR6|Q92869|Q9HBX1|Q9NXB5|Q9UM67|Q9UML0|Q9UMT7	Missense_Mutation	SNP	ENST00000308733.5	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.22|16.22	3.060411|3.060411	0.55432|0.55432	.|.	.|.	ENSG00000066136|ENSG00000066136	ENST00000414185|ENST00000427410;ENST00000447388;ENST00000425457;ENST00000456393;ENST00000372658;ENST00000372655;ENST00000372654;ENST00000372653;ENST00000372669;ENST00000372652;ENST00000372651;ENST00000440226;ENST00000308733	.|T;T;T;T;T;T;T;T;T;T;T	.|0.48201	.|0.82;0.82;0.82;0.82;0.82;1.32;0.82;0.82;0.82;0.82;0.82	5.69|5.69	4.59|4.59	0.56863|0.56863	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.57814|0.57814	0.2079|0.2079	L|L	0.41236|0.41236	1.265|1.265	0.52501|0.52501	D|D	0.99995|0.99995	.|D;D;B;B;B;D;D;D	.|0.71674	.|0.994;0.996;0.053;0.006;0.089;0.998;0.998;0.997	.|P;D;B;B;B;D;D;D	.|0.79108	.|0.808;0.992;0.028;0.007;0.035;0.933;0.933;0.989	T|T	0.56541|0.56541	-0.7962|-0.7962	5|10	.|0.51188	.|T	.|0.08	.|.	12.8221|12.8221	0.57698|0.57698	0.0927:0.0:0.9073:0.0|0.0927:0.0:0.9073:0.0	.|.	.|200;144;238;204;238;238;238;238	.|B4DW63;B4DVS8;Q13952;Q5T6K9;Q13952-3;F8VWM3;Q13952-2;B4DUS6	.|.;.;NFYC_HUMAN;.;.;.;.;.	H|H	121|200;238;238;238;136;136;238;204;238;238;238;238;238	.|ENSP00000408315:Q200H;ENSP00000404427:Q238H;ENSP00000396620:Q238H;ENSP00000408867:Q238H;ENSP00000361738:Q238H;ENSP00000361737:Q204H;ENSP00000361754:Q238H;ENSP00000361736:Q238H;ENSP00000361734:Q238H;ENSP00000414299:Q238H;ENSP00000312617:Q238H	.|ENSP00000312617:Q238H	D|Q	+|+	1|3	0|2	NFYC|NFYC	41001299|41001299	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	1.519000|1.519000	0.35888|0.35888	2.686000|2.686000	0.91538|0.91538	0.603000|0.603000	0.83216|0.83216	GAT|CAG		0.448	NFYC-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000020802.1	NM_014223		C	41228712	G	C	41228712	3	2	809	1	0	0	0	0	1	0	0	0	10393	933	33	4	736	4	NFYC	1	41228712	Missense_Mutation	SNP	G	TCGA-UZ-A9PX-01A-11D-A42J-10	5770788	41228712	208021909	3	48405											
LRIG2	9860	hgsc.bcm.edu	37	1	113642882	113642882	+	Missense_Mutation	SNP	G	G	T			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr1:113642882G>T	ENST00000361127.5	+	10	1420	c.1222G>T	c.(1222-1224)Ggt>Tgt	p.G408C		NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	408					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)		AGCATTCATTGGTCTTGAATC	0.308																																																0													84	89	87					1																	113642882		2203	4293	6496	SO:0001583	missense	9860			AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"Immunoglobulin superfamily / I-set domain containing"	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.1222G>T	chr1.hg19:g.113642882G>T	ENSP00000355396:p.Gly408Cys		Q9NSN2	Missense_Mutation	SNP	ENST00000361127.5	hg19	CCDS30808.1	.	.	.	.	.	.	.	.	.	.	g	20.3	3.966927	0.74131	.	.	ENSG00000198799	ENST00000361127	T	0.25912	1.77	5.81	4.9	0.64082	.	0.049680	0.85682	D	0.000000	T	0.49098	0.1537	M	0.88979	2.995	0.58432	D	0.99999	D	0.89917	1.0	D	0.87578	0.998	T	0.62258	-0.6892	10	0.87932	D	0	.	14.7602	0.69600	0.0694:0.0:0.9306:0.0	.	408	O94898	LRIG2_HUMAN	C	408	ENSP00000355396:G408C	ENSP00000355396:G408C	G	+	1	0	LRIG2	113444405	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.124000	0.71620	1.457000	0.47850	0.655000	0.94253	GGT		0.308	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2	NM_014813		T	113642882	G	T	113642882	3	4	809	1	0	0	0	0	1	0	0	0	8947	1348	47	4	1260	4	LRIG2	1	113642882	Missense_Mutation	SNP	G	TCGA-UZ-A9PX-01A-11D-A42J-10	72414170	113642882	135607739	4	48406											
DCLRE1B	64858	hgsc.bcm.edu	37	1	114454066	114454066	+	Silent	SNP	C	C	T			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr1:114454066C>T	ENST00000369563.3	+	4	1298	c.852C>T	c.(850-852)gcC>gcT	p.A284A	DCLRE1B_ENST00000466480.1_3'UTR	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	284					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|protection from non-homologous end joining at telomere (GO:0031848)|telomere maintenance (GO:0000723)|telomeric 3' overhang formation (GO:0031860)|telomeric loop formation (GO:0031627)	centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGCTTCGTGCCTTTGTCGCAG	0.572								Other identified genes with known or suspected DNA repair function																																								0													123	105	111					1																	114454066		2203	4300	6503	SO:0001819	synonymous_variant	64858			BC029687	CCDS866.1	1p11.1	2010-06-24	2010-06-24		ENSG00000118655	ENSG00000118655			17641	protein-coding gene	gene with protein product	"APOLLO", "PSO2 homolog (S. cerevisiae)"	609683	"DNA cross-link repair 1B (PSO2 homolog, S. cerevisiae)"				Standard	NM_022836		Approved	SNM1B, FLJ12810, FLJ13998	uc001eeg.3	Q9H816	OTTHUMG00000011937	ENST00000369563.3:c.852C>T	chr1.hg19:g.114454066C>T			Q9H9E5	Silent	SNP	ENST00000369563.3	hg19	CCDS866.1																																																																																				0.572	DCLRE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033020.2	NM_022836		T	114454066	C	T	114454066	2	4	809	1	0	0	0	0	0	0	0	1	4297	668	24	2		2	DCLRE1B	1	114454066	Silent	SNP	C	TCGA-UZ-A9PX-01A-11D-A42J-10	811184	114454066	134796555	5	48407											
UBAP2L	9898	hgsc.bcm.edu	37	1	154221875	154221875	+	Missense_Mutation	SNP	T	T	C			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr1:154221875T>C	ENST00000361546.2	+	11	1217	c.1175T>C	c.(1174-1176)aTg>aCg	p.M392T	UBAP2L_ENST00000343815.6_Missense_Mutation_p.M392T|UBAP2L_ENST00000271877.7_Missense_Mutation_p.M403T|UBAP2L_ENST00000428931.1_Missense_Mutation_p.M392T			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	392					binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TCTTGGGACATGGGCTCGACG	0.517																																																0													133	121	125					1																	154221875		2203	4300	6503	SO:0001583	missense	9898			BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.1175T>C	chr1.hg19:g.154221875T>C	ENSP00000355343:p.Met392Thr		B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	Missense_Mutation	SNP	ENST00000361546.2	hg19	CCDS1063.1	.	.	.	.	.	.	.	.	.	.	T	14.70	2.614833	0.46631	.	.	ENSG00000143569	ENST00000343815;ENST00000428931;ENST00000271877;ENST00000361546	T;T;T;T	0.10860	2.83;2.84;2.83;2.84	5.1	5.1	0.69264	.	0.045985	0.85682	D	0.000000	T	0.02083	0.0065	N	0.02011	-0.69	0.32303	N	0.564825	B;B;B;B;B	0.17465	0.0;0.022;0.0;0.0;0.0	B;B;B;B;B	0.24541	0.0;0.054;0.001;0.001;0.0	T	0.36720	-0.9736	10	0.72032	D	0.01	-3.987	14.5124	0.67797	0.0:0.0:0.0:1.0	.	306;403;385;392;392	B4DZJ6;F8W726;Q14157-4;Q14157-1;Q14157	.;.;.;.;UBP2L_HUMAN	T	392;392;403;392	ENSP00000345308:M392T;ENSP00000389445:M392T;ENSP00000271877:M403T;ENSP00000355343:M392T	ENSP00000271877:M403T	M	+	2	0	UBAP2L	152488499	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.269000	0.65542	2.263000	0.75096	0.533000	0.62120	ATG		0.517	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087673.1	NM_014847		C	154221875	T	C	154221875	3	2	809	1	0	0	0	0	1	0	0	0	16843	1464	51	3	1217	3	UBAP2L	1	154221875	Missense_Mutation	SNP	T	TCGA-UZ-A9PX-01A-11D-A42J-10	39767809	154221875	95028746	6	48408											
TTC24	164118	hgsc.bcm.edu	37	1	156551345	156551345	+	Silent	SNP	C	C	T	rs12729118		TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr1:156551345C>T	ENST00000368237.3	+	1	189	c.189C>T	c.(187-189)ttC>ttT	p.F63F	TTC24_ENST00000368236.3_Silent_p.F63F			A2A3L6	TTC24_HUMAN	tetratricopeptide repeat domain 24	63										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	20	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGAGGGCCTTCCTTCTGGCCT	0.632																																																0													34	36	35					1																	156551345		692	1591	2283	SO:0001819	synonymous_variant	164118				CCDS53379.1	1q22	2013-01-10			ENSG00000187862	ENSG00000187862		"Tetratricopeptide (TTC) repeat domain containing"	32348	protein-coding gene	gene with protein product							Standard	NM_001105669		Approved		uc021pbf.1	A2A3L6	OTTHUMG00000033202	ENST00000368237.3:c.189C>T	chr1.hg19:g.156551345C>T			Q5T3H7	Silent	SNP	ENST00000368237.3	hg19	CCDS53379.1																																																																																				0.632	TTC24-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158547.1	XM_089384		T	156551345	C	T	156551345	2	4	809	1	0	0	0	0	0	0	0	1	16697	854	30	2		2	TTC24	1	156551345	Silent	SNP	C	TCGA-UZ-A9PX-01A-11D-A42J-10	2329470	156551345	92699276	7	48409											
MYOC	4653	hgsc.bcm.edu	37	1	171621388	171621388	+	Missense_Mutation	SNP	C	C	G			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr1:171621388C>G	ENST00000037502.6	-	1	435	c.364G>C	c.(364-366)Ggc>Cgc	p.G122R		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	122					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)					CTCAGGGTGCCCAGCTCCCTC	0.622																																																0													53	59	57					1																	171621388		2203	4300	6503	SO:0001583	missense	4653			BC029261	CCDS1297.1	1q23-q24	2008-02-05			ENSG00000034971	ENSG00000034971			7610	protein-coding gene	gene with protein product		601652		GLC1A		9169133, 9005853	Standard	NM_000261		Approved	TIGR, JOAG1	uc001ghu.3	Q99972	OTTHUMG00000034789	ENST00000037502.6:c.364G>C	chr1.hg19:g.171621388C>G	ENSP00000037502:p.Gly122Arg		B2RD84|O00620|Q7Z6Q9	Missense_Mutation	SNP	ENST00000037502.6	hg19	CCDS1297.1	.	.	.	.	.	.	.	.	.	.	C	0.034	-1.318487	0.01320	.	.	ENSG00000034971	ENST00000037502;ENST00000536591;ENST00000537133	T	0.57273	0.41	5.25	2.99	0.34606	.	0.913959	0.09386	N	0.809260	T	0.22166	0.0534	L	0.57536	1.79	0.33371	D	0.573529	B	0.34015	0.435	B	0.28305	0.088	T	0.10064	-1.0646	10	0.14252	T	0.57	.	6.6244	0.22820	0.0:0.7184:0.0:0.2816	.	122	Q99972	MYOC_HUMAN	R	122;55;122	ENSP00000037502:G122R	ENSP00000037502:G122R	G	-	1	0	MYOC	169888011	0.075000	0.21258	0.056000	0.19401	0.003000	0.03518	0.213000	0.17521	0.446000	0.26666	-0.345000	0.07892	GGC		0.622	MYOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084178.2	NM_000261		G	171621388	C	G	171621388	3	3	809	1	0	0	0	0	1	0	0	0	10088	623	22	4	1162	4	MYOC	1	171621388	Missense_Mutation	SNP	C	TCGA-UZ-A9PX-01A-11D-A42J-10	15070043	171621388	77629233	8	48410											
KLHL20	27252	hgsc.bcm.edu	37	1	173703270	173703270	+	Missense_Mutation	SNP	C	C	A			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr1:173703270C>A	ENST00000209884.4	+	3	578	c.442C>A	c.(442-444)Ctc>Atc	p.L148I	KLHL20_ENST00000493170.1_3'UTR|KLHL20_ENST00000546011.1_Intron	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	148					cytoskeleton organization (GO:0007010)|Golgi to endosome transport (GO:0006895)|negative regulation of apoptotic process (GO:0043066)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K33-linked ubiquitination (GO:1990390)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|response to interferon-alpha (GO:0035455)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|PML body (GO:0016605)|trans-Golgi network (GO:0005802)	interferon-gamma binding (GO:0019964)|ubiquitin-protein transferase activity (GO:0004842)			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						TGCTTGCCTCCTCCAGCTGGC	0.473																																					GBM(159;862 2695 6559 23041)											0													68	66	66					1																	173703270		2203	4300	6503	SO:0001583	missense	27252			AB026190	CCDS1310.1	1q25.1	2013-01-30	2013-01-30		ENSG00000076321	ENSG00000076321		"Kelch-like", "BTB/POZ domain containing"	25056	protein-coding gene	gene with protein product			"kelch-like 20 (Drosophila)"			14668487, 20389280	Standard	NM_014458		Approved	KLEIP, KHLHX	uc001gjc.3	Q9Y2M5	OTTHUMG00000040548	ENST00000209884.4:c.442C>A	chr1.hg19:g.173703270C>A	ENSP00000209884:p.Leu148Ile		B3KMA0|B4DUR0|Q5TZF2|Q5ZF45|Q9H457	Missense_Mutation	SNP	ENST00000209884.4	hg19	CCDS1310.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.307687	0.81247	.	.	ENSG00000076321	ENST00000209884	T	0.74421	-0.84	5.63	4.72	0.59763	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.86385	0.5920	M	0.93106	3.38	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.989	D	0.89802	0.3976	9	.	.	.	.	13.2837	0.60230	0.0:0.9226:0.0:0.0774	.	148;148	Q9BS75;Q9Y2M5	.;KLH20_HUMAN	I	148	ENSP00000209884:L148I	.	L	+	1	0	KLHL20	171969893	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.951000	0.70273	1.382000	0.46385	0.644000	0.83932	CTC		0.473	KLHL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097582.1	NM_014458		A	173703270	C	A	173703270	3	1	809	1	0	0	0	0	1	0	0	0	8377	681	24	4	448	4	KLHL20	1	173703270	Missense_Mutation	SNP	C	TCGA-UZ-A9PX-01A-11D-A42J-10	2081882	173703270	75547351	9	48411											
RYR2	6262	hgsc.bcm.edu	37	1	237550598	237550598	+	Silent	SNP	C	C	T			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr1:237550598C>T	ENST00000366574.2	+	9	911	c.594C>T	c.(592-594)aaC>aaT	p.N198N	RYR2_ENST00000360064.6_Silent_p.N196N|RYR2_ENST00000542537.1_Silent_p.N182N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	198	MIR 2. {ECO:0000255|PROSITE- ProRule:PRU00131}.				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)			CTTATGGCAACGGCAGCTTAC	0.498																																																0													113	114	114					1																	237550598		2003	4178	6181	SO:0001819	synonymous_variant	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.594C>T	chr1.hg19:g.237550598C>T			Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	hg19	CCDS55691.1																																																																																				0.498	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		T	237550598	C	T	237550598	2	4	809	1	0	0	0	0	0	0	0	1	13775	535	19	1		1	RYR2	1	237550598	Silent	SNP	C	TCGA-UZ-A9PX-01A-11D-A42J-10	63847328	237550598	11700023	10	48412											
APOB	338	hgsc.bcm.edu	37	2	21238299	21238299	+	Missense_Mutation	SNP	C	C	T			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr2:21238299C>T	ENST00000233242.1	-	22	3578	c.3451G>A	c.(3451-3453)Gac>Aac	p.D1151N		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1151					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)					GCAGATGAGTCCATTTGGAGA	0.488																																																0													147	128	134					2																	21238299		2203	4300	6503	SO:0001583	missense	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.3451G>A	chr2.hg19:g.21238299C>T	ENSP00000233242:p.Asp1151Asn		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	hg19	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.225393	0.79576	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00816	5.66	5.49	4.6	0.57074	.	0.185608	0.38272	N	0.001754	T	0.03434	0.0099	M	0.67953	2.075	0.80722	D	1	D	0.69078	0.997	D	0.64042	0.921	T	0.43163	-0.9408	10	0.72032	D	0.01	.	8.2055	0.31452	0.1578:0.7577:0.0:0.0845	.	1151	P04114	APOB_HUMAN	N	1151	ENSP00000233242:D1151N	ENSP00000233242:D1151N	D	-	1	0	APOB	21091804	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.251000	0.43187	1.441000	0.47550	0.655000	0.94253	GAC		0.488	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			T	21238299	C	T	21238299	3	4	809	1	0	0	0	0	1	0	0	0	785	855	30	2	10272	2	APOB	2	21238299	Missense_Mutation	SNP	C	TCGA-UZ-A9PX-01A-11D-A42J-10		21238299	221961074	11	48413											
ITSN2	50618	hgsc.bcm.edu	37	2	24524074	24524074	+	Missense_Mutation	SNP	G	G	C			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr2:24524074G>C	ENST00000355123.4	-	11	1473	c.1030C>G	c.(1030-1032)Ctg>Gtg	p.L344V	ITSN2_ENST00000361999.3_Missense_Mutation_p.L344V|ITSN2_ENST00000406921.3_Missense_Mutation_p.L344V	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	344					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)					TATGAAGGCAGAGTTCCATTA	0.338																																																0													94	93	93					2																	24524074		2203	4299	6502	SO:0001583	missense	50618			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.1030C>G	chr2.hg19:g.24524074G>C	ENSP00000347244:p.Leu344Val		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	SNP	ENST00000355123.4	hg19	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	G	11.47	1.649174	0.29336	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000445614;ENST00000406921;ENST00000412011	T;T;T;T;T	0.60424	0.2;0.19;0.2;0.69;1.02	5.36	4.48	0.54585	.	0.000000	0.27927	U	0.017293	T	0.46678	0.1405	L	0.38838	1.175	0.32270	N	0.568969	B;B;B;B	0.29805	0.147;0.147;0.257;0.107	B;B;B;B	0.34093	0.141;0.13;0.175;0.159	T	0.54330	-0.8310	10	0.25106	T	0.35	.	10.1709	0.42908	0.1543:0.0:0.8457:0.0	.	344;344;344;344	Q9NZM3-4;Q9NZM3-3;Q9NZM3-2;Q9NZM3	.;.;.;ITSN2_HUMAN	V	344;344;344;368;344;369	ENSP00000354561:L344V;ENSP00000347244:L344V;ENSP00000370250:L344V;ENSP00000384499:L344V;ENSP00000391224:L369V	ENSP00000347244:L344V	L	-	1	2	ITSN2	24377578	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.457000	0.45005	1.413000	0.46997	0.491000	0.48974	CTG		0.338	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		C	24524074	G	C	24524074	3	2	809	1	0	0	0	0	1	0	0	0	7929	933	33	4	4234	4	ITSN2	2	24524074	Missense_Mutation	SNP	G	TCGA-UZ-A9PX-01A-11D-A42J-10	3285775	24524074	218675299	12	48414											
MTIF2	4528	hgsc.bcm.edu	37	2	55473542	55473542	+	Missense_Mutation	SNP	T	T	G			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr2:55473542T>G	ENST00000263629.4	-	10	1352	c.1037A>C	c.(1036-1038)gAa>gCa	p.E346A	MTIF2_ENST00000394600.3_Missense_Mutation_p.E346A|MTIF2_ENST00000403721.1_Missense_Mutation_p.E346A	NM_002453.2	NP_002444.2	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	346	tr-type G.				formation of translation initiation complex (GO:0001732)|regulation of translational initiation (GO:0006446)|ribosome disassembly (GO:0032790)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						TGCTTTCAATTCTAACATTTC	0.363																																																0													167	153	158					2																	55473542		2203	4300	6503	SO:0001583	missense	4528			L34600	CCDS1853.1	2p16.1	2008-02-05			ENSG00000085760	ENSG00000085760			7441	protein-coding gene	gene with protein product		603766				9925935, 7829522	Standard	XM_005264335		Approved	IF-2mt	uc002ryo.3	P46199	OTTHUMG00000129338	ENST00000263629.4:c.1037A>C	chr2.hg19:g.55473542T>G	ENSP00000263629:p.Glu346Ala		D6W5D0	Missense_Mutation	SNP	ENST00000263629.4	hg19	CCDS1853.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.368297	0.82463	.	.	ENSG00000085760	ENST00000403721;ENST00000263629;ENST00000394600;ENST00000418823;ENST00000535023	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.75997	0.3926	H	0.97315	3.98	0.80722	D	1	P	0.39094	0.659	P	0.51701	0.677	D	0.83541	0.0096	10	0.87932	D	0	-25.932	15.3048	0.73985	0.0:0.0:0.0:1.0	.	346	P46199	IF2M_HUMAN	A	346;346;346;66;346	ENSP00000384481:E346A;ENSP00000263629:E346A;ENSP00000378099:E346A;ENSP00000403492:E66A	ENSP00000263629:E346A	E	-	2	0	MTIF2	55327046	1.000000	0.71417	0.999000	0.59377	0.758000	0.43043	7.472000	0.80996	2.027000	0.59764	0.533000	0.62120	GAA		0.363	MTIF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251486.4	NM_002453		G	55473542	T	G	55473542	3	3	809	1	0	0	0	0	1	0	0	0	9936	1783	62	5	1174	5	MTIF2	2	55473542	Missense_Mutation	SNP	T	TCGA-UZ-A9PX-01A-11D-A42J-10	30949468	55473542	187725831	13	48415											
NFU1	27247	hgsc.bcm.edu	37	2	69650823	69650823	+	Missense_Mutation	SNP	C	C	T			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr2:69650823C>T	ENST00000410022.2	-	3	398	c.193G>A	c.(193-195)Gat>Aat	p.D65N	NFU1_ENST00000394305.1_Intron|NFU1_ENST00000303698.3_Missense_Mutation_p.D41N|NFU1_ENST00000471185.1_Intron	NM_001002755.2	NP_001002755.1	Q9UMS0	NFU1_HUMAN	NFU1 iron-sulfur cluster scaffold	65					iron-sulfur cluster assembly (GO:0016226)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron ion binding (GO:0005506)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	7						TTTGGGGTATCTTGTGTTTGA	0.368																																																0													74	72	73					2																	69650823		2203	4300	6503	SO:0001583	missense	27247			AJ132584	CCDS33217.1, CCDS42694.1, CCDS46315.1	2p15-p13	2014-07-03	2014-07-03	2006-10-24	ENSG00000169599	ENSG00000169599			16287	protein-coding gene	gene with protein product		608100	"HIRA interacting protein 5", "NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae)"	HIRIP5		11342215, 12886008	Standard	NR_045631		Approved	CGI-33, NifU, NIFUC	uc002sfk.3	Q9UMS0	OTTHUMG00000152668	ENST00000410022.2:c.193G>A	chr2.hg19:g.69650823C>T	ENSP00000387219:p.Asp65Asn		B4DUL9|Q53QE5|Q6VNZ8|Q7Z5B1|Q7Z5B2|Q9Y322	Missense_Mutation	SNP	ENST00000410022.2	hg19	CCDS33217.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.671512	0.67814	.	.	ENSG00000169599	ENST00000410022;ENST00000303698	T;T	0.63417	-0.04;-0.02	5.18	5.18	0.71444	NIF system FeS cluster assembly, NifU-like scaffold, N-terminal (4);	0.091423	0.64402	D	0.000001	T	0.76335	0.3973	M	0.75884	2.315	0.80722	D	1	D;P	0.65815	0.995;0.571	P;B	0.61800	0.894;0.378	T	0.74450	-0.3661	10	0.29301	T	0.29	3.0E-4	17.7387	0.88402	0.0:1.0:0.0:0.0	.	41;65	Q9UMS0-3;Q9UMS0	.;NFU1_HUMAN	N	65;41	ENSP00000387219:D65N;ENSP00000306965:D41N	ENSP00000306965:D41N	D	-	1	0	NFU1	69504327	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.121000	0.77160	2.421000	0.82119	0.591000	0.81541	GAT		0.368	NFU1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327279.3	NM_015700		T	69650823	C	T	69650823	3	4	809	1	0	0	0	0	1	0	0	0	10388	913	32	2	595	2	NFU1	2	69650823	Missense_Mutation	SNP	C	TCGA-UZ-A9PX-01A-11D-A42J-10	14177281	69650823	173548550	14	48416											
TTC21B	79809	hgsc.bcm.edu	37	2	166737187	166737187	+	Splice_Site	SNP	A	A	T			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr2:166737187A>T	ENST00000243344.7	-	27	3943		c.e27+1		TTC21B_ENST00000536175.1_Splice_Site	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B						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)				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						TGCCAAACTCACCTACTGCCG	0.313																																																0													107	99	102					2																	166737187		2203	4300	6503	SO:0001630	splice_region_variant	79809			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.3805+1T>A	chr2.hg19:g.166737187A>T			A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Splice_Site	SNP	ENST00000243344.7	hg19	CCDS33315.1	.	.	.	.	.	.	.	.	.	.	A	11.57	1.677877	0.29783	.	.	ENSG00000123607	ENST00000536175;ENST00000243344	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9431	0.47285	0.9214:0.0:0.0786:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TTC21B	166445433	1.000000	0.71417	1.000000	0.80357	0.048000	0.14542	6.088000	0.71371	2.311000	0.77944	0.533000	0.62120	.		0.313	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1	NM_024753	Intron	T	166737187	A	T	166737187	5	4	809	1	0	0	0	0	0	0	1	0	16693	173	6	5	155	5	TTC21B	2	166737187	Splice_Site	SNP	A	TCGA-UZ-A9PX-01A-11D-A42J-10	97086364	166737187	76462186	15	48417											
DYNC1I2	1781	hgsc.bcm.edu	37	2	172582207	172582208	+	Frame_Shift_Ins	INS	-	-	GA			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr2:172582207_172582208insGA	ENST00000397119.3	+	8	758_759	c.591_592insGA	c.(592-594)gaafs	p.E198fs	DYNC1I2_ENST00000409197.1_Frame_Shift_Ins_p.E172fs|DYNC1I2_ENST00000409453.1_Frame_Shift_Ins_p.E198fs|DYNC1I2_ENST00000263811.4_Frame_Shift_Ins_p.E192fs|DYNC1I2_ENST00000508530.1_Frame_Shift_Ins_p.E172fs|DYNC1I2_ENST00000534253.2_Frame_Shift_Ins_p.E198fs|DYNC1I2_ENST00000340296.4_Frame_Shift_Ins_p.E172fs|DYNC1I2_ENST00000409773.1_Frame_Shift_Ins_p.E198fs|DYNC1I2_ENST00000409317.1_Frame_Shift_Ins_p.E192fs|DYNC1I2_ENST00000358002.6_Frame_Shift_Ins_p.E190fs|DYNC1I2_ENST00000410079.3_Frame_Shift_Ins_p.E190fs	NM_001378.1	NP_001369.1	Q13409	DC1I2_HUMAN	dynein, cytoplasmic 1, intermediate chain 2	198					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)			AGAAAGATGAGGAAAATGATAG	0.282																																																0																																										SO:0001589	frameshift_variant	1781			AK055491	CCDS46450.1, CCDS63054.1, CCDS63056.1, CCDS63057.1	2q31.1	2013-01-10	2005-11-24	2005-11-24	ENSG00000077380	ENSG00000077380		"Cytoplasmic dyneins", "WD repeat domain containing"	2964	protein-coding gene	gene with protein product		603331	"dynein, cytoplasmic, intermediate polypeptide 2"	DNCI2		10049579, 16260502	Standard	NM_001378		Approved		uc002uha.2	Q13409	OTTHUMG00000154061	ENST00000397119.3:c.592_593dupGA	chr2.hg19:g.172582208_172582209dupGA	ENSP00000380308:p.Glu198fs		B7ZA04|D3DPD4|D3DPD5|D3DPD6|Q32LY9|Q53S84|Q5BJF8|Q7Z4X1|Q96NG7|Q96S87|Q9BXZ5|Q9NT58	Frame_Shift_Ins	INS	ENST00000397119.3	hg19	CCDS46450.1																																																																																				0.282	DYNC1I2-001	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333683.2	NM_001378		GA	172582208	-	GA	172582207	7	5	809	1	0	1	1	0	0	0	0	0	4845	991	35	0	617	0	DYNC1I2	2	172582207	Frame_Shift_Ins	INS	-	TCGA-UZ-A9PX-01A-11D-A42J-10	5845020	172582207	70617166	16	48418											
CAB39	51719	hgsc.bcm.edu	37	2	231663533	231663533	+	Missense_Mutation	SNP	C	C	T			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr2:231663533C>T	ENST00000258418.5	+	5	917	c.488C>T	c.(487-489)tCg>tTg	p.S163L	CAB39_ENST00000409788.3_Missense_Mutation_p.S163L|CAB39_ENST00000410084.3_Missense_Mutation_p.S163L	NM_016289.3	NP_057373.1	Q9Y376	CAB39_HUMAN	calcium binding protein 39	163					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)		ATTTTGTGGTCGGAACAGTTT	0.343																																																0													88	86	87					2																	231663533		2203	4300	6503	SO:0001583	missense	51719			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.488C>T	chr2.hg19:g.231663533C>T	ENSP00000258418:p.Ser163Leu		A8K8L7	Missense_Mutation	SNP	ENST00000258418.5	hg19	CCDS2478.1	.	.	.	.	.	.	.	.	.	.	C	32	5.161225	0.94727	.	.	ENSG00000135932	ENST00000258418;ENST00000409788;ENST00000410084	T;T;T	0.35236	1.32;1.32;1.32	5.58	5.58	0.84498	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.67078	0.2855	M	0.90542	3.125	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	T	0.72478	-0.4281	10	0.52906	T	0.07	.	17.0555	0.86532	0.0:1.0:0.0:0.0	.	163	Q9Y376	CAB39_HUMAN	L	163	ENSP00000258418:S163L;ENSP00000386238:S163L;ENSP00000386642:S163L	ENSP00000258418:S163L	S	+	2	0	CAB39	231371777	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	7.818000	0.86416	2.616000	0.88540	0.467000	0.42956	TCG		0.343	CAB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256955.2	NM_016289		T	231663533	C	T	231663533	3	4	809	1	0	0	0	0	1	0	0	0	2527	893	31	1	502	1	CAB39	2	231663533	Missense_Mutation	SNP	C	TCGA-UZ-A9PX-01A-11D-A42J-10	59081326	231663533	11535840	17	48419											
GOLGA4	2803	hgsc.bcm.edu	37	3	37369055	37369056	+	Frame_Shift_Ins	INS	-	-	AAAT			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr3:37369055_37369056insAAAT	ENST00000361924.2	+	14	6052_6053	c.5678_5679insAAAT	c.(5677-5682)agaaatfs	p.-1895fs	GOLGA4_ENST00000356847.4_Frame_Shift_Ins_p.-1917fs|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4						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						ATGGATGGAAGAAATAAACCCA	0.371																																																0																																										SO:0001589	frameshift_variant	2803			U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"golgin 245"	602509	"golgi autoantigen, golgin subfamily a, 4"			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.5679_5682dupAAAT	chr3.hg19:g.37369056_37369059dupAAAT	ENSP00000354486:p.Lys1895fs		F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Frame_Shift_Ins	INS	ENST00000361924.2	hg19	CCDS2666.1																																																																																				0.371	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078		AAAT	37369056	-	AAAT	37369055	7	5	809	1	0	1	1	0	0	0	0	0	6557	942	33	0	5802	0	GOLGA4	3	37369055	Frame_Shift_Ins	INS	-	TCGA-UZ-A9PX-01A-11D-A42J-10		37369055	160653375	18	48420											
CTNNB1	1499	hgsc.bcm.edu	37	3	41267192	41267192	+	Missense_Mutation	SNP	T	T	A			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr3:41267192T>A	ENST00000349496.5	+	6	1056	c.776T>A	c.(775-777)cTc>cAc	p.L259H	CTNNB1_ENST00000396183.3_Missense_Mutation_p.L259H|CTNNB1_ENST00000405570.1_Missense_Mutation_p.L259H|CTNNB1_ENST00000396185.3_Missense_Mutation_p.L259H|CTNNB1_ENST00000453024.1_Missense_Mutation_p.L252H	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	259					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)		ATTACAACTCTCCACAACCTT	0.383		15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)		Dom	yes		3	3p22-p21.3	1499	"catenin (cadherin-associated protein), beta 1"		"E, M, O"	0													93	99	97					3																	41267192		2203	4300	6503	SO:0001583	missense	1499	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	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.776T>A	chr3.hg19:g.41267192T>A	ENSP00000344456:p.Leu259His		A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	hg19	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.007483	0.75046	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	D;D;D;D;D	0.85955	-2.05;-2.05;-2.05;-2.05;-2.05	5.51	5.51	0.81932	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.92941	0.7754	M	0.84511	2.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.94038	0.7307	10	0.87932	D	0	-18.0393	15.6183	0.76784	0.0:0.0:0.0:1.0	.	187;259	B4DSW9;P35222	.;CTNB1_HUMAN	H	259;259;259;252;259	ENSP00000385604:L259H;ENSP00000379486:L259H;ENSP00000344456:L259H;ENSP00000411226:L252H;ENSP00000379488:L259H	ENSP00000344456:L259H	L	+	2	0	CTNNB1	41242196	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.092000	0.63282	0.482000	0.46254	CTC		0.383	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		A	41267192	T	A	41267192	3	1	809	1	0	0	0	0	1	0	0	0	4018	1551	54	5	794	5	CTNNB1	3	41267192	Missense_Mutation	SNP	T	TCGA-UZ-A9PX-01A-11D-A42J-10	3898137	41267192	156755238	19	48421											
RBM15B	29890	hgsc.bcm.edu	37	3	51429622	51429622	+	Silent	SNP	C	C	A			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr3:51429622C>A	ENST00000323686.4	+	1	892	c.792C>A	c.(790-792)cgC>cgA	p.R264R		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	264					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ACAAGCAGCGCTCGCTGTccc	0.781																																																0													3	3	3					3																	51429622		1417	2994	4411	SO:0001819	synonymous_variant	29890			AL831838	CCDS33764.1	3p21.1	2013-02-12			ENSG00000179837	ENSG00000259956		"RNA binding motif (RRM) containing"	24303	protein-coding gene	gene with protein product		612602				16129689	Standard	NM_013286		Approved	HUMAGCGB, OTT3	uc003dbd.3	Q8NDT2	OTTHUMG00000156896	ENST00000323686.4:c.792C>A	chr3.hg19:g.51429622C>A			A4QPG7|Q6QE19|Q9BV96	Silent	SNP	ENST00000323686.4	hg19	CCDS33764.1																																																																																				0.781	RBM15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346489.1	NM_013286		A	51429622	C	A	51429622	2	1	809	1	0	0	0	0	0	0	0	1	13123	784	28	4		4	RBM15B	3	51429622	Silent	SNP	C	TCGA-UZ-A9PX-01A-11D-A42J-10	10162430	51429622	146592808	20	48422											
TMF1	7110	hgsc.bcm.edu	37	3	69096518	69096518	+	Missense_Mutation	SNP	A	A	C			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr3:69096518A>C	ENST00000398559.2	-	2	1554	c.1338T>G	c.(1336-1338)gaT>gaG	p.D446E	MIR3136_ENST00000583498.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|TMF1_ENST00000543976.1_Missense_Mutation_p.D446E			P82094	TMF1_HUMAN	TATA element modulatory factor 1	446					acrosome assembly (GO:0001675)|cellular response to organic cyclic compound (GO:0071407)|defense response to bacterium (GO:0042742)|Leydig cell differentiation (GO:0033327)|luteinizing hormone secretion (GO:0032275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|positive regulation of cytokine production (GO:0001819)|positive regulation of testosterone secretion (GO:2000845)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|sperm motility (GO:0030317)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription cofactor activity (GO:0003712)			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		CCTTGCAAACATCTTCCTTCT	0.373																																																0													117	113	114					3																	69096518		1877	4104	5981	SO:0001583	missense	7110				CCDS43105.1	3p21-p12	2009-02-11			ENSG00000144747	ENSG00000144747			11870	protein-coding gene	gene with protein product		601126				1409643	Standard	NM_007114		Approved	ARA160, TMF	uc003dnn.3	P82094	OTTHUMG00000158771	ENST00000398559.2:c.1338T>G	chr3.hg19:g.69096518A>C	ENSP00000381567:p.Asp446Glu		B7ZLJ2|Q17R87|Q59GK0	Missense_Mutation	SNP	ENST00000398559.2	hg19	CCDS43105.1	.	.	.	.	.	.	.	.	.	.	A	8.573	0.880464	0.17467	.	.	ENSG00000144747	ENST00000398559;ENST00000543976;ENST00000356248;ENST00000438636	T;T	0.81247	-1.47;-1.31	5.86	-2.1	0.07210	.	0.177079	0.64402	D	0.000012	T	0.63367	0.2505	L	0.41824	1.3	0.23210	N	0.998115	B;B	0.15141	0.012;0.007	B;B	0.11329	0.006;0.003	T	0.51387	-0.8712	10	0.02654	T	1	-12.2902	9.5763	0.39459	0.3454:0.155:0.4996:0.0	.	446;446	P82094-2;P82094	.;TMF1_HUMAN	E	446;446;359;446	ENSP00000381567:D446E;ENSP00000438706:D446E	ENSP00000348582:D359E	D	-	3	2	TMF1	69179208	0.978000	0.34361	0.568000	0.28447	0.499000	0.33736	0.418000	0.21230	-0.266000	0.09339	-0.297000	0.09499	GAT		0.373	TMF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352106.1	NM_007114		C	69096518	A	C	69096518	3	2	809	1	0	0	0	0	1	0	0	0	16233	214	8	5	2007	5	TMF1	3	69096518	Missense_Mutation	SNP	A	TCGA-UZ-A9PX-01A-11D-A42J-10	17666896	69096518	128925912	21	48423											
CRYBG3	131544	hgsc.bcm.edu	37	3	97596113	97596114	+	Frame_Shift_Ins	INS	-	-	T			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr3:97596113_97596114insT	ENST00000182096.4	+	1	295_296	c.231_232insT	c.(232-234)tttfs	p.F78fs		NM_153605.3	NP_705833.3	Q68DQ2	CRBG3_HUMAN	beta-gamma crystallin domain containing 3	2026							carbohydrate binding (GO:0030246)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						AGTCTGTCTTGTTTCATGATAC	0.421																																																0																																										SO:0001589	frameshift_variant	131544					3q11.2	2008-09-30			ENSG00000080200	ENSG00000080200			34427	protein-coding gene	gene with protein product							Standard	NM_153605		Approved	DKFZp667G2110	uc021xbn.2	Q68DQ2	OTTHUMG00000159187	ENST00000182096.4:c.234dupT	chr3.hg19:g.97596116_97596116dupT	ENSP00000182096:p.Phe78fs		B4DLE8|F6VHI2|Q4G0V8|Q7Z4R9|Q86VD0|Q8N262|Q8N7F1|Q8NDQ8	Frame_Shift_Ins	INS	ENST00000182096.4	hg19																																																																																					0.421	CRYBG3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353751.1	NM_153605		T	97596114	-	T	97596113	7	5	809	1	0	1	1	0	0	0	0	0	3915	1368	48	0	233	0	CRYBG3	3	97596113	Frame_Shift_Ins	INS	-	TCGA-UZ-A9PX-01A-11D-A42J-10	28499595	97596113	100426317	22	48424											
LETM1	3954	hgsc.bcm.edu	37	4	1836665	1836665	+	Silent	SNP	G	G	T	rs145939138		TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr4:1836665G>T	ENST00000302787.2	-	5	1079	c.783C>A	c.(781-783)gcC>gcA	p.A261A		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	261	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)			GGAGGAACTTGGCCAGCTCCA	0.567																																																0													102	82	89					4																	1836665		2203	4300	6503	SO:0001819	synonymous_variant	3954			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.783C>A	chr4.hg19:g.1836665G>T			B4DED2|Q9UF65	Silent	SNP	ENST00000302787.2	hg19	CCDS3355.1																																																																																				0.567	LETM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241634.1			T	1836665	G	T	1836665	2	4	809	1	0	0	0	0	0	0	0	1	8736	1335	47	4		4	LETM1	4	1836665	Silent	SNP	G	TCGA-UZ-A9PX-01A-11D-A42J-10		1836665	189317611	23	48425											
PPARGC1A	10891	hgsc.bcm.edu	37	4	23833339	23833339	+	Silent	SNP	T	T	A			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr4:23833339T>A	ENST00000264867.2	-	3	389	c.270A>T	c.(268-270)gcA>gcT	p.A90A	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	90					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)				CTGTGAGGACTGCTAGCAAGT	0.473																																					Esophageal Squamous(29;694 744 13796 34866 44181)											0													335	275	295					4																	23833339		2203	4300	6503	SO:0001819	synonymous_variant	10891			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.270A>T	chr4.hg19:g.23833339T>A			B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Silent	SNP	ENST00000264867.2	hg19	CCDS3429.1																																																																																				0.473	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	NM_013261		A	23833339	T	A	23833339	2	1	809	1	0	0	0	0	0	0	0	1	12302	1567	55	5		5	PPARGC1A	4	23833339	Silent	SNP	T	TCGA-UZ-A9PX-01A-11D-A42J-10	21996674	23833339	167320937	24	48426											
KLB	152831	hgsc.bcm.edu	37	4	39409127	39409127	+	Missense_Mutation	SNP	C	C	A			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr4:39409127C>A	ENST00000257408.4	+	1	655	c.558C>A	c.(556-558)aaC>aaA	p.N186K		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	186	Glycosyl hydrolase-1 1.				carbohydrate metabolic process (GO:0005975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor binding (GO:0017134)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						TGCTTAGAAACATTGAACCTA	0.413																																																0													77	80	79					4																	39409127		2203	4299	6502	SO:0001583	missense	152831			AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962			15527	protein-coding gene	gene with protein product		611135					Standard	NM_175737		Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.558C>A	chr4.hg19:g.39409127C>A	ENSP00000257408:p.Asn186Lys		Q2M3K8	Missense_Mutation	SNP	ENST00000257408.4	hg19	CCDS3451.1	.	.	.	.	.	.	.	.	.	.	C	3.801	-0.041733	0.07452	.	.	ENSG00000134962	ENST00000257408	T	0.32272	1.46	5.33	3.58	0.41010	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.257041	0.43416	D	0.000578	T	0.29256	0.0728	L	0.55103	1.725	0.18873	N	0.999985	B;B	0.26483	0.15;0.15	B;B	0.32624	0.149;0.149	T	0.21793	-1.0235	10	0.41790	T	0.15	-11.7505	7.8899	0.29672	0.0:0.6521:0.0:0.3479	.	186;186	B7ZL50;Q86Z14	.;KLOTB_HUMAN	K	186	ENSP00000257408:N186K	ENSP00000257408:N186K	N	+	3	2	KLB	39085522	0.996000	0.38824	0.004000	0.12327	0.405000	0.30901	0.343000	0.19944	0.607000	0.29982	-0.373000	0.07131	AAC		0.413	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250429.1	NM_175737		A	39409127	C	A	39409127	3	1	809	1	0	0	0	0	1	0	0	0	8334	477	17	4	560	4	KLB	4	39409127	Missense_Mutation	SNP	C	TCGA-UZ-A9PX-01A-11D-A42J-10	15575788	39409127	151745149	25	48427											
PRKG2	5593	hgsc.bcm.edu	37	4	82126083	82126083	+	Missense_Mutation	SNP	T	T	G			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr4:82126083T>G	ENST00000395578.1	-	2	235	c.119A>C	c.(118-120)aAg>aCg	p.K40T	PRKG2_ENST00000264399.1_Missense_Mutation_p.K40T|PRKG2_ENST00000418486.2_Missense_Mutation_p.K40T			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	40					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						CTCAGCATCCTTCCTCCTCAA	0.542																																																0													114	108	110					4																	82126083		2203	4300	6503	SO:0001583	missense	5593			X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.119A>C	chr4.hg19:g.82126083T>G	ENSP00000378945:p.Lys40Thr		B4DMX3|E7EPE6|O00125|O60916	Missense_Mutation	SNP	ENST00000395578.1	hg19	CCDS3589.1	.	.	.	.	.	.	.	.	.	.	T	14.64	2.594584	0.46214	.	.	ENSG00000138669	ENST00000395578;ENST00000264399;ENST00000418486	D;D;D	0.82433	-1.61;-1.61;-1.61	5.1	3.88	0.44766	.	0.098784	0.64402	D	0.000002	T	0.68677	0.3027	N	0.24115	0.695	0.80722	D	1	B;P	0.36465	0.411;0.554	B;B	0.33196	0.111;0.159	T	0.63001	-0.6734	10	0.20519	T	0.43	-22.8646	10.7529	0.46219	0.0:0.076:0.0:0.924	.	40;40	E7EPE6;Q13237	.;KGP2_HUMAN	T	40	ENSP00000378945:K40T;ENSP00000264399:K40T;ENSP00000389038:K40T	ENSP00000264399:K40T	K	-	2	0	PRKG2	82345107	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.387000	0.44389	0.940000	0.37473	0.477000	0.44152	AAG		0.542	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252639.1	NM_006259		G	82126083	T	G	82126083	3	3	809	1	0	0	0	0	1	0	0	0	12528	1609	56	5	2241	5	PRKG2	4	82126083	Missense_Mutation	SNP	T	TCGA-UZ-A9PX-01A-11D-A42J-10	42716956	82126083	109028193	26	48428											
SEC31A	22872	hgsc.bcm.edu	37	4	83765635	83765635	+	Missense_Mutation	SNP	T	T	C	rs375945567		TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr4:83765635T>C	ENST00000395310.2	-	21	2712	c.2530A>G	c.(2530-2532)Ata>Gta	p.I844V	SEC31A_ENST00000348405.4_Missense_Mutation_p.I805V|SEC31A_ENST00000508502.1_Missense_Mutation_p.I844V|SEC31A_ENST00000500777.2_Missense_Mutation_p.I805V|SEC31A_ENST00000509142.1_Missense_Mutation_p.I844V|SEC31A_ENST00000355196.2_Missense_Mutation_p.I844V|SEC31A_ENST00000505984.1_Missense_Mutation_p.I805V|SEC31A_ENST00000505472.1_Missense_Mutation_p.I875V|SEC31A_ENST00000311785.7_Missense_Mutation_p.I844V|SEC31A_ENST00000448323.1_Missense_Mutation_p.I844V|SEC31A_ENST00000513858.1_Missense_Mutation_p.I805V|SEC31A_ENST00000432794.1_Missense_Mutation_p.I844V|SEC31A_ENST00000264405.5_Missense_Mutation_p.I608V|SEC31A_ENST00000508479.1_Missense_Mutation_p.I844V|SEC31A_ENST00000326950.5_Missense_Mutation_p.I805V|SEC31A_ENST00000443462.2_Missense_Mutation_p.I839V	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)	844	Interaction with PDCD6.|Pro-rich.				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)				CCATGCATTATGAAACCCGGA	0.458																																																0								T	VAL/ILE,VAL/ILE,VAL/ILE,VAL/ILE,VAL/ILE,VAL/ILE	1,4405	2.1+/-5.4	0,1,2202	125	120	122		2530,2530,2530,2515,2530,2413	-1.9	1	4		122	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense	SEC31A	NM_001077206.2,NM_001077207.2,NM_001077208.2,NM_001191049.1,NM_014933.3,NM_016211.3	29,29,29,29,29,29	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	benign,benign,benign,benign,benign,benign	844/1107,844/1221,844/1206,839/1201,844/1221,805/1182	83765635	1,13005	2203	4300	6503	SO:0001583	missense	22872			AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"WD repeat domain containing"	17052	protein-coding gene	gene with protein product		610257	"SEC31-like 1 (S. cerevisiae)", "Sec31 homolog A (S. cerevisiae)"	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.2530A>G	chr4.hg19:g.83765635T>C	ENSP00000378721:p.Ile844Val		B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Missense_Mutation	SNP	ENST00000395310.2	hg19	CCDS3596.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.116|9.116	1.007818|1.007818	0.19199|0.19199	2.27E-4|2.27E-4	0.0|0.0	ENSG00000138674|ENSG00000138674	ENST00000511338|ENST00000348405;ENST00000513858;ENST00000395310;ENST00000443462;ENST00000509142;ENST00000432794;ENST00000448323;ENST00000326950;ENST00000311785;ENST00000505472;ENST00000500777;ENST00000508502;ENST00000355196;ENST00000264405;ENST00000505984;ENST00000508479	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.35789	.|1.48;1.32;2.52;2.52;1.38;2.41;2.52;1.48;1.38;1.29;1.32;2.52;2.52;3.35;2.47;2.4	5.52|5.52	-1.9|-1.9	0.07665|0.07665	.|.	.|0.490823	.|0.23787	.|N	.|0.044567	T|T	0.16214|0.16214	0.0390|0.0390	L|L	0.29908|0.29908	0.895|0.895	0.29715|0.29715	N|N	0.839122|0.839122	.|B;B;B;B;B;B;B;B;B	.|0.12013	.|0.001;0.0;0.0;0.005;0.0;0.003;0.0;0.0;0.002	.|B;B;B;B;B;B;B;B;B	.|0.16289	.|0.001;0.0;0.001;0.015;0.0;0.009;0.001;0.001;0.002	T|T	0.15321|0.15321	-1.0441|-1.0441	5|10	.|0.13853	.|T	.|0.58	-1.5149|-1.5149	0.9936|0.9936	0.01462|0.01462	0.1356:0.2089:0.246:0.4096|0.1356:0.2089:0.246:0.4096	.|.	.|839;805;844;805;805;844;844;844;608	.|B4DIW6;B7ZL00;D6RHZ5;O94979-6;O94979-4;O94979-3;O94979-2;O94979;O94979-7	.|.;.;.;.;.;.;.;SC31A_HUMAN;.	R|V	54|805;805;844;839;844;844;844;805;844;875;805;844;844;608;805;844	.|ENSP00000337602:I805V;ENSP00000426886:I805V;ENSP00000378721:I844V;ENSP00000408027:I839V;ENSP00000426569:I844V;ENSP00000407944:I844V;ENSP00000400926:I844V;ENSP00000325087:I805V;ENSP00000309070:I844V;ENSP00000421633:I875V;ENSP00000421464:I805V;ENSP00000424635:I844V;ENSP00000347329:I844V;ENSP00000264405:I608V;ENSP00000424451:I805V;ENSP00000425999:I844V	.|ENSP00000264405:I608V	H|I	-|-	2|1	0|0	SEC31A|SEC31A	83984659|83984659	0.978000|0.978000	0.34361|0.34361	0.958000|0.958000	0.39756|0.39756	0.867000|0.867000	0.49689|0.49689	-0.068000|-0.068000	0.11561|0.11561	-0.543000|-0.543000	0.06240|0.06240	-0.707000|-0.707000	0.03653|0.03653	CAT|ATA		0.458	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	NM_016211		C	83765635	T	C	83765635	3	2	809	1	0	0	0	0	1	0	0	0	14004	1464	51	3	1160	3	SEC31A	4	83765635	Missense_Mutation	SNP	T	TCGA-UZ-A9PX-01A-11D-A42J-10	1639552	83765635	107388641	27	48429											
WDFY3	23001	hgsc.bcm.edu	37	4	85729530	85729531	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr4:85729530_85729531insAG	ENST00000295888.4	-	15	2792_2793	c.2385_2386insCT	c.(2383-2388)tcttctfs	p.S796fs	WDFY3-AS1_ENST00000510449.1_RNA|WDFY3_ENST00000322366.6_Frame_Shift_Ins_p.S796fs	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	796					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)		GAGGGGAGAGAAGACTCACTTG	0.46																																																0																																										SO:0001589	frameshift_variant	23001			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.2384_2385dupCT	chr4.hg19:g.85729531_85729532dupAG	ENSP00000295888:p.Ser796fs		Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Frame_Shift_Ins	INS	ENST00000295888.4	hg19	CCDS3609.1																																																																																				0.46	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		AG	85729531	-	AG	85729530	7	5	809	1	0	1	1	0	0	0	0	0	17275	246	9	0	8410	0	WDFY3	4	85729530	Frame_Shift_Ins	INS	-	TCGA-UZ-A9PX-01A-11D-A42J-10	1963895	85729530	105424746	28	48430											
KIAA1109	84162	hgsc.bcm.edu	37	4	123150305	123150305	+	Silent	SNP	T	T	A			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr4:123150305T>A	ENST00000264501.4	+	25	3325	c.2952T>A	c.(2950-2952)acT>acA	p.T984T	KIAA1109_ENST00000455637.1_Silent_p.T984T|KIAA1109_ENST00000388738.3_Silent_p.T984T|KIAA1109_ENST00000495260.1_3'UTR			Q2LD37	K1109_HUMAN	KIAA1109	984					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)		p.T984T(1)		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						CTTGTCCAACTTCAGATGATT	0.323																																																1	Substitution - coding silent(1)	kidney(1)											207	193	198					4																	123150305		1864	4109	5973	SO:0001819	synonymous_variant	84162			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.2952T>A	chr4.hg19:g.123150305T>A			Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Silent	SNP	ENST00000264501.4	hg19	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	T	9.845	1.191962	0.21954	.	.	ENSG00000138688	ENST00000424425	.	.	.	5.33	-0.0113	0.13993	.	.	.	.	.	T	0.39989	0.1099	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22521	-1.0214	4	.	.	.	.	0.9972	0.01470	0.4442:0.207:0.1147:0.2341	.	.	.	.	I	816	.	.	F	+	1	0	KIAA1109	123369755	0.878000	0.30173	1.000000	0.80357	0.992000	0.81027	-0.019000	0.12546	0.060000	0.16281	-0.496000	0.04628	TTC		0.323	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		A	123150305	T	A	123150305	2	1	809	1	0	0	0	0	0	0	0	1	8210	1596	56	5		5	KIAA1109	4	123150305	Silent	SNP	T	TCGA-UZ-A9PX-01A-11D-A42J-10	37420775	123150305	68003971	29	48431											
SAP30	8819	hgsc.bcm.edu	37	4	174294597	174294597	+	Missense_Mutation	SNP	C	C	G			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr4:174294597C>G	ENST00000296504.3	+	2	612	c.372C>G	c.(370-372)aaC>aaG	p.N124K	RP11-798M19.6_ENST00000609153.1_RNA	NM_003864.3	NP_003855.1			Sin3A-associated protein, 30kDa											large_intestine(1)|lung(2)|ovary(1)	4		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.15e-17)|Epithelial(43;4.33e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.62e-09)|STAD - Stomach adenocarcinoma(60;0.00278)|GBM - Glioblastoma multiforme(59;0.00659)|LUSC - Lung squamous cell carcinoma(193;0.0919)		GTGTTCGAAACAGAAGAAAGA	0.338																																																0													143	139	141					4																	174294597		2203	4300	6503	SO:0001583	missense	8819			AF055993	CCDS3817.1	4q34.1	2008-02-05	2006-02-02		ENSG00000164105	ENSG00000164105			10532	protein-coding gene	gene with protein product		603378	"sin3A-associated protein, 30kDa"			9651585	Standard	NM_003864		Approved		uc003itd.3	O75446	OTTHUMG00000160798	ENST00000296504.3:c.372C>G	chr4.hg19:g.174294597C>G	ENSP00000296504:p.Asn124Lys			Missense_Mutation	SNP	ENST00000296504.3	hg19	CCDS3817.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.692434	0.48202	.	.	ENSG00000164105	ENST00000296504	.	.	.	5.62	4.78	0.61160	.	0.301984	0.31415	N	0.007686	T	0.67730	0.2924	L	0.50333	1.59	0.52501	D	0.999957	D	0.76494	0.999	D	0.87578	0.998	T	0.69075	-0.5241	9	0.66056	D	0.02	-17.9972	8.8041	0.34927	0.0:0.7598:0.0:0.2402	.	124	O75446	SAP30_HUMAN	K	124	.	ENSP00000296504:N124K	N	+	3	2	SAP30	174531172	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.014000	0.57145	1.353000	0.45828	0.655000	0.94253	AAC		0.338	SAP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362360.1	NM_003864		G	174294597	C	G	174294597	3	3	809	1	0	0	0	0	1	0	0	0	13839	477	17	4	378	4	SAP30	4	174294597	Missense_Mutation	SNP	C	TCGA-UZ-A9PX-01A-11D-A42J-10	51144292	174294597	16859679	30	48432											
TRIO	7204	hgsc.bcm.edu	37	5	14401112	14401112	+	Missense_Mutation	SNP	C	C	A			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr5:14401112C>A	ENST00000344204.4	+	31	4679	c.4655C>A	c.(4654-4656)cCt>cAt	p.P1552H	TRIO_ENST00000537187.1_Missense_Mutation_p.P1552H	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1552	PH 1. {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)					GAAGGAGACCCTTGCAAATTT	0.393																																																0													90	87	88					5																	14401112		2203	4300	6503	SO:0001583	missense	7204			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing"	12303	protein-coding gene	gene with protein product		601893	"triple functional domain (PTPRF interacting)"			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.4655C>A	chr5.hg19:g.14401112C>A	ENSP00000339299:p.Pro1552His		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	hg19	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.579193	0.65878	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000513206	T;T	0.31769	1.48;1.48	5.8	5.8	0.92144	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.053023	0.85682	D	0.000000	T	0.40815	0.1132	M	0.69823	2.125	0.58432	D	0.999999	B;B	0.25809	0.135;0.005	B;B	0.30029	0.11;0.006	T	0.18840	-1.0324	10	0.42905	T	0.14	.	20.063	0.97692	0.0:1.0:0.0:0.0	.	1552;1552	O75962-5;O75962	.;TRIO_HUMAN	H	1552;1552;1239	ENSP00000339299:P1552H;ENSP00000446348:P1552H	ENSP00000339299:P1552H	P	+	2	0	TRIO	14454112	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.986000	0.70563	2.735000	0.93741	0.655000	0.94253	CCT		0.393	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		A	14401112	C	A	14401112	3	1	809	1	0	0	0	0	1	0	0	0	16557	681	24	4	4777	4	TRIO	5	14401112	Missense_Mutation	SNP	C	TCGA-UZ-A9PX-01A-11D-A42J-10		14401112	166514148	31	48433											
MAP3K1	4214	hgsc.bcm.edu	37	5	56178645	56178645	+	Silent	SNP	T	T	C			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr5:56178645T>C	ENST00000399503.3	+	14	3618	c.3618T>C	c.(3616-3618)ccT>ccC	p.P1206P		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1206					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		CCATAGTTCCTCAGCTGCAGG	0.423																																																0													77	78	78					5																	56178645		2084	4234	6318	SO:0001819	synonymous_variant	4214			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6848	protein-coding gene	gene with protein product		600982	"mitogen-activated protein kinase kinase kinase 1"	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.3618T>C	chr5.hg19:g.56178645T>C				Silent	SNP	ENST00000399503.3	hg19	CCDS43318.1																																																																																				0.423	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066		C	56178645	T	C	56178645	2	2	809	1	0	0	0	0	0	0	0	1	9245	1538	54	3		3	MAP3K1	5	56178645	Silent	SNP	T	TCGA-UZ-A9PX-01A-11D-A42J-10	41777533	56178645	124736615	32	48434											
DEPDC1B	55789	hgsc.bcm.edu	37	5	59901536	59901536	+	Missense_Mutation	SNP	C	C	T			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr5:59901536C>T	ENST00000265036.5	-	8	1113	c.1046G>A	c.(1045-1047)gGc>gAc	p.G349D	DEPDC1B_ENST00000509006.1_5'UTR|DEPDC1B_ENST00000545085.1_Missense_Mutation_p.G322D|DEPDC1B_ENST00000453022.2_Missense_Mutation_p.G349D	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B	349	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)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				GGTACCAAAGCCATCACACAG	0.423																																																0													178	157	164					5																	59901536		2203	4300	6503	SO:0001583	missense	55789			AF303178	CCDS3977.1, CCDS47214.1	5q12	2008-02-05			ENSG00000035499	ENSG00000035499			24902	protein-coding gene	gene with protein product	"breast cancer cell 3"					12477932	Standard	NM_001145208		Approved	XTP1, BRCC3	uc003jsh.3	Q8WUY9	OTTHUMG00000097083	ENST00000265036.5:c.1046G>A	chr5.hg19:g.59901536C>T	ENSP00000265036:p.Gly349Asp		A8K3R9|B4DUT4|Q86WJ3|Q8IZY6|Q9NUN3|Q9NW57	Missense_Mutation	SNP	ENST00000265036.5	hg19	CCDS3977.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.155593	0.38021	.	.	ENSG00000035499	ENST00000265036;ENST00000453022;ENST00000545085	T;T;T	0.41400	1.0;1.0;1.0	4.18	4.18	0.49190	Rho GTPase-activating protein domain (2);Rho GTPase activation protein (1);	0.363482	0.31167	N	0.008126	T	0.21103	0.0508	N	0.08118	0	0.33818	D	0.628647	B;B	0.24823	0.112;0.088	B;B	0.20184	0.028;0.028	T	0.25047	-1.0143	9	.	.	.	-7.9597	11.4426	0.50105	0.0:0.6472:0.3528:0.0	.	349;349	B4DUT4;Q8WUY9	.;DEP1B_HUMAN	D	349;349;322	ENSP00000265036:G349D;ENSP00000389101:G349D;ENSP00000438320:G322D	.	G	-	2	0	DEPDC1B	59937293	0.062000	0.20869	0.939000	0.37840	0.962000	0.63368	2.567000	0.45956	2.166000	0.68216	0.655000	0.94253	GGC		0.423	DEPDC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214207.1	NM_018369		T	59901536	C	T	59901536	3	4	809	1	0	0	0	0	1	0	0	0	4442	739	26	2	559	2	DEPDC1B	5	59901536	Missense_Mutation	SNP	C	TCGA-UZ-A9PX-01A-11D-A42J-10	3722891	59901536	121013724	33	48435											
THBS4	7060	hgsc.bcm.edu	37	5	79375049	79375049	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr5:79375049C>T	ENST00000350881.2	+	19	2669	c.2479C>T	c.(2479-2481)Cga>Tga	p.R827*	CTD-2201I18.1_ENST00000514042.1_RNA|CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_Nonsense_Mutation_p.R736*|THBS4_ENST00000504720.1_3'UTR	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	827	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		CACCCCATTCCGAGCAGTTGC	0.468																																																0													88	77	81					5																	79375049		2203	4300	6503	SO:0001587	stop_gained	7060				CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.2479C>T	chr5.hg19:g.79375049C>T	ENSP00000339730:p.Arg827*		B2R909|Q86TG2	Nonsense_Mutation	SNP	ENST00000350881.2	hg19	CCDS4049.1	.	.	.	.	.	.	.	.	.	.	C	40	8.514351	0.98843	.	.	ENSG00000113296	ENST00000350881;ENST00000511733	.	.	.	5.08	3.24	0.37175	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.6578	14.4118	0.67119	0.5359:0.4641:0.0:0.0	.	.	.	.	X	827;736	.	ENSP00000339730:R827X	R	+	1	2	THBS4	79410805	1.000000	0.71417	0.998000	0.56505	0.669000	0.39330	1.437000	0.34991	0.789000	0.33779	0.650000	0.86243	CGA		0.468	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1			T	79375049	C	T	79375049	4	4	809	1	0	0	0	0	0	1	0	0	15861	644	23	1	2553	1	THBS4	5	79375049	Nonsense_Mutation	SNP	C	TCGA-UZ-A9PX-01A-11D-A42J-10	19473513	79375049	101540211	34	48436											
ST8SIA4	7903	hgsc.bcm.edu	37	5	100231400	100231400	+	Missense_Mutation	SNP	A	A	G			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr5:100231400A>G	ENST00000231461.5	-	2	513	c.203T>C	c.(202-204)gTa>gCa	p.V68A	ST8SIA4_ENST00000451528.2_Missense_Mutation_p.V68A	NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	68					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)		CCAACCTTCTACATTGTGCTG	0.378																																																0													121	116	117					5																	100231400		2203	4299	6502	SO:0001583	missense	7903			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.203T>C	chr5.hg19:g.100231400A>G	ENSP00000231461:p.Val68Ala		A8KA07|G3V104|Q8N1F4|Q92693	Missense_Mutation	SNP	ENST00000231461.5	hg19	CCDS4091.1	.	.	.	.	.	.	.	.	.	.	A	13.16	2.154860	0.38021	.	.	ENSG00000113532	ENST00000231461;ENST00000451528	T;T	0.30448	2.29;1.53	6.07	4.92	0.64577	.	0.093065	0.46758	D	0.000265	T	0.16171	0.0389	N	0.24115	0.695	0.29429	N	0.859974	B	0.02656	0.0	B	0.01281	0.0	T	0.26292	-1.0107	10	0.08837	T	0.75	.	6.0554	0.19809	0.7189:0.1383:0.1427:0.0	.	68	Q92187	SIA8D_HUMAN	A	68	ENSP00000231461:V68A;ENSP00000428914:V68A	ENSP00000231461:V68A	V	-	2	0	ST8SIA4	100259299	1.000000	0.71417	0.997000	0.53966	0.966000	0.64601	2.363000	0.44178	1.122000	0.41944	0.533000	0.62120	GTA		0.378	ST8SIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250632.3	NM_005668		G	100231400	A	G	100231400	3	3	809	1	0	0	0	0	1	0	0	0	15239	391	14	3	896	3	ST8SIA4	5	100231400	Missense_Mutation	SNP	A	TCGA-UZ-A9PX-01A-11D-A42J-10	20856351	100231400	80683860	35	48437											
ATXN1	6310	hgsc.bcm.edu	37	6	16327864	16327864	+	Missense_Mutation	SNP	G	G	C			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr6:16327864G>C	ENST00000244769.4	-	8	1614	c.678C>G	c.(676-678)caC>caG	p.H226Q	ATXN1_ENST00000436367.1_Missense_Mutation_p.H226Q	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	226					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)				CCCTGCTGAGGtgctgctgct	0.652																																																0													11	15	13					6																	16327864		2150	4194	6344	SO:0001583	missense	6310			X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"Ataxins"	10548	protein-coding gene	gene with protein product		601556	"spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.678C>G	chr6.hg19:g.16327864G>C	ENSP00000244769:p.His226Gln		Q17S02|Q9UJG2|Q9Y4J1	Missense_Mutation	SNP	ENST00000244769.4	hg19	CCDS34342.1	.	.	.	.	.	.	.	.	.	.	G	1.926	-0.447046	0.04572	.	.	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	T;T	0.27256	1.68;1.68	4.74	0.503	0.16940	.	0.308295	0.34291	N	0.004091	T	0.05686	0.0149	L	0.39397	1.21	0.09310	N	0.999995	B	0.32245	0.361	B	0.28638	0.092	T	0.23976	-1.0173	10	0.48119	T	0.1	-16.8942	3.2876	0.06937	0.3032:0.0:0.385:0.3119	.	226	P54253	ATX1_HUMAN	Q	226	ENSP00000244769:H226Q;ENSP00000416360:H226Q	ENSP00000244769:H226Q	H	-	3	2	ATXN1	16435843	0.437000	0.25593	0.006000	0.13384	0.009000	0.06853	0.925000	0.28791	0.191000	0.20236	0.563000	0.77884	CAC		0.652	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		C	16327864	G	C	16327864	3	2	809	1	0	0	0	0	1	0	0	0	1209	1252	44	4	1777	4	ATXN1	6	16327864	Missense_Mutation	SNP	G	TCGA-UZ-A9PX-01A-11D-A42J-10		16327864	154787203	36	48438											
GRM4	2914	hgsc.bcm.edu	37	6	34004335	34004335	+	Missense_Mutation	SNP	A	A	C			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr6:34004335A>C	ENST00000538487.2	-	9	1995	c.1552T>G	c.(1552-1554)Tcc>Gcc	p.S518A	GRM4_ENST00000374181.4_Missense_Mutation_p.S518A|GRM4_ENST00000455714.2_Missense_Mutation_p.S378A|GRM4_ENST00000609222.1_Missense_Mutation_p.S385A|GRM4_ENST00000374177.3_Missense_Mutation_p.S402A|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000535756.1_Missense_Mutation_p.S385A|GRM4_ENST00000544773.2_Missense_Mutation_p.S349A	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	518					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						CTGCAGATGGAGCGGGGCAGC	0.647																																																0													35	32	33					6																	34004335		2201	4299	6500	SO:0001583	missense	2914			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.1552T>G	chr6.hg19:g.34004335A>C	ENSP00000440556:p.Ser518Ala		B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Missense_Mutation	SNP	ENST00000538487.2	hg19	CCDS4787.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.236349	0.79800	.	.	ENSG00000124493	ENST00000374181;ENST00000374177;ENST00000545715;ENST00000535756;ENST00000544773;ENST00000538487;ENST00000455714	D;D;D;D;D;D;D	0.97089	-4.24;-4.24;-4.24;-4.24;-4.24;-4.24;-4.24	4.79	4.79	0.61399	GPCR, family 3, nine cysteines domain (1);	0.000000	0.85682	D	0.000000	D	0.98172	0.9396	M	0.85542	2.76	0.58432	D	0.999997	D;D;D;D;D	0.89917	1.0;1.0;0.99;0.997;1.0	D;D;D;D;D	0.91635	0.999;0.997;0.979;0.992;0.997	D	0.98468	1.0599	10	0.49607	T	0.09	.	14.1617	0.65450	1.0:0.0:0.0:0.0	.	471;349;378;518;385	B7ZLU9;B7Z1T9;F5GXM5;Q14833;B3KVL9	.;.;.;GRM4_HUMAN;.	A	518;402;210;385;349;518;378	ENSP00000363296:S518A;ENSP00000363292:S402A;ENSP00000445533:S210A;ENSP00000437925:S385A;ENSP00000437730:S349A;ENSP00000440556:S518A;ENSP00000398456:S378A	ENSP00000363292:S402A	S	-	1	0	GRM4	34112313	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.130000	0.94437	2.008000	0.58898	0.450000	0.29827	TCC		0.647	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2			C	34004335	A	C	34004335	3	2	809	1	0	0	0	0	1	0	0	0	6801	304	11	5	1198	5	GRM4	6	34004335	Missense_Mutation	SNP	A	TCGA-UZ-A9PX-01A-11D-A42J-10	17676471	34004335	137110732	37	48439											
SPDEF	25803	hgsc.bcm.edu	37	6	34508954	34508954	+	Silent	SNP	G	G	T			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr6:34508954G>T	ENST00000374037.3	-	3	855	c.441C>A	c.(439-441)ccC>ccA	p.P147P	SPDEF_ENST00000544425.1_Silent_p.P147P	NM_012391.2	NP_036523.1	O95238	SPDEF_HUMAN	SAM pointed domain containing ETS transcription factor	147	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				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						TCCAGTCCATGGGATCTGGGC	0.642																																																0													34	33	33					6																	34508954		2203	4299	6502	SO:0001819	synonymous_variant	25803			AF071538	CCDS4794.1, CCDS59013.1	6p21.3	2013-08-07	2013-08-07		ENSG00000124664	ENSG00000124664			17257	protein-coding gene	gene with protein product		608144	"SAM pointed domain containing ets transcription factor"			10625666, 6857767	Standard	NM_012391		Approved	PDEF, bA375E1.3	uc003ojq.2	O95238	OTTHUMG00000014548	ENST00000374037.3:c.441C>A	chr6.hg19:g.34508954G>T			B4DWH8|F5H778	Silent	SNP	ENST00000374037.3	hg19	CCDS4794.1																																																																																				0.642	SPDEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040246.1	NM_012391		T	34508954	G	T	34508954	2	4	809	1	0	0	0	0	0	0	0	1	15031	1335	47	4		4	SPDEF	6	34508954	Silent	SNP	G	TCGA-UZ-A9PX-01A-11D-A42J-10	504619	34508954	136606113	38	48440											
C6orf223	221416	hgsc.bcm.edu	37	6	43969793	43969793	+	Missense_Mutation	SNP	T	T	C			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr6:43969793T>C	ENST00000336600.5	+	3	232	c.212T>C	c.(211-213)cTg>cCg	p.L71P	RP5-1120P11.1_ENST00000607590.1_RNA|C6orf223_ENST00000442114.2_Missense_Mutation_p.L51P|C6orf223_ENST00000448947.2_3'UTR|C6orf223_ENST00000439969.2_Silent_p.S85S|RP5-1120P11.1_ENST00000422059.1_RNA	NM_001171992.1|NM_153246.4	NP_001165463.1|NP_694978.2	Q8N319	CF223_HUMAN	chromosome 6 open reading frame 223	71										central_nervous_system(1)|lung(2)|pancreas(1)|prostate(1)|urinary_tract(1)	6	all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437)		all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217)			ttgccagatctggtaacccta	0.463																																																0													88	87	87					6																	43969793		2156	4227	6383	SO:0001583	missense	221416			BC032706	CCDS34459.1, CCDS55016.1	6p21.1	2012-09-05			ENSG00000181577	ENSG00000181577			28692	protein-coding gene	gene with protein product						12477932	Standard	NM_153246		Approved	MGC45491	uc003own.3	Q8N319	OTTHUMG00000014753	ENST00000336600.5:c.212T>C	chr6.hg19:g.43969793T>C	ENSP00000426159:p.Leu71Pro		E9PB59|Q8N575	Missense_Mutation	SNP	ENST00000336600.5	hg19	CCDS34459.1	.	.	.	.	.	.	.	.	.	.	T	4.326	0.059826	0.08339	.	.	ENSG00000181577	ENST00000336600	T	0.44482	0.92	3.87	-0.527	0.11909	.	1.108720	0.07254	N	0.866419	T	0.38268	0.1034	.	.	.	0.22127	N	0.999349	D	0.71674	0.998	D	0.66351	0.943	T	0.14868	-1.0457	9	0.87932	D	0	.	4.1088	0.10049	0.4521:0.0:0.1694:0.3784	.	71	Q8N319	CF223_HUMAN	P	71	ENSP00000426159:L71P	ENSP00000426159:L71P	L	+	2	0	C6orf223	44077771	0.330000	0.24705	0.001000	0.08648	0.005000	0.04900	0.534000	0.23098	-0.065000	0.13021	0.459000	0.35465	CTG		0.463	C6orf223-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040702.3	NM_153246		C	43969793	T	C	43969793	3	2	809	1	0	0	0	0	1	0	0	0	2359	1580	55	3	265	3	C6orf223	6	43969793	Missense_Mutation	SNP	T	TCGA-UZ-A9PX-01A-11D-A42J-10	9460839	43969793	127145274	39	48441											
LTV1	84946	hgsc.bcm.edu	37	6	144179108	144179108	+	Silent	SNP	T	T	C			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr6:144179108T>C	ENST00000367576.5	+	6	893	c.759T>C	c.(757-759)aaT>aaC	p.N253N		NM_032860.3	NP_116249.2	Q96GA3	LTV1_HUMAN	LTV1 ribosome biogenesis factor	253						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)		TGAGGAGAAATGAACAGCTGA	0.398																																																0													73	73	73					6																	144179108		2203	4300	6503	SO:0001819	synonymous_variant	84946			BC009855	CCDS5201.1	6q24.2	2014-02-03	2014-02-03	2006-02-06	ENSG00000135521	ENSG00000135521			21173	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 93", "LTV1 homolog (S. cerevisiae)"	C6orf93			Standard	NM_032860		Approved	FLJ14909, dJ468K18.4	uc003qjs.3	Q96GA3	OTTHUMG00000015733	ENST00000367576.5:c.759T>C	chr6.hg19:g.144179108T>C			Q96JX8	Silent	SNP	ENST00000367576.5	hg19	CCDS5201.1																																																																																				0.398	LTV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042532.1	NM_032860		C	144179108	T	C	144179108	2	2	809	1	0	0	0	0	0	0	0	1	9083	1461	51	3		3	LTV1	6	144179108	Silent	SNP	T	TCGA-UZ-A9PX-01A-11D-A42J-10	100209315	144179108	26935959	40	48442											
TNRC18	84629	hgsc.bcm.edu	37	7	5354660	5354669	+	Frame_Shift_Del	DEL	TGGCTCCTGG	TGGCTCCTGG	-	rs10250456		TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	TGGCTCCTGG	TGGCTCCTGG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr7:5354660_5354669delTGGCTCCTGG	ENST00000430969.1	-	26	7321_7330	c.6973_6982delCCAGGAGCCA	c.(6973-6984)ccaggagccaagfs	p.PGAK2325fs	TNRC18_ENST00000399537.4_Frame_Shift_Del_p.PGAK2325fs	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2325							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)		CCACGGGCCTTGGCTCCTGGCTCCTCCGAC	0.69																																																0																																										SO:0001589	frameshift_variant	84629			U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"Trinucleotide (CAG) repeat containing"	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.6973_6982delCCAGGAGCCA	chr7.hg19:g.5354660_5354669delTGGCTCCTGG	ENSP00000395538:p.Pro2325fs		A8MX41|Q96JH1|Q96K91	Frame_Shift_Del	DEL	ENST00000430969.1	hg19	CCDS47534.1																																																																																				0.69	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				-	5354669	TGGCTCCTGG	-	5354660	7	5	809	1	0	1	0	1	0	0	0	0	16344	1821	63	0	1944	0	TNRC18	7	5354660	Frame_Shift_Del	DEL	TGGCTCCTGG	TCGA-UZ-A9PX-01A-11D-A42J-10		5354660	153784003	41	48443											
ZNF3	7551	hgsc.bcm.edu	37	7	99669236	99669236	+	Missense_Mutation	SNP	T	T	C			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr7:99669236T>C	ENST00000424697.1	-	6	1177	c.871A>G	c.(871-873)Aag>Gag	p.K291E	ZNF3_ENST00000303915.6_Missense_Mutation_p.K291E|ZNF3_ENST00000299667.4_Missense_Mutation_p.K291E|ZNF3_ENST00000413658.2_Intron	NM_001278284.1|NM_001278287.1|NM_001278290.1|NM_001278291.1|NM_001278292.1|NM_032924.3	NP_001265213.1|NP_001265216.1|NP_001265219.1|NP_001265220.1|NP_001265221.1|NP_116313.3	P17036	ZNF3_HUMAN	zinc finger protein 3	291					cell differentiation (GO:0030154)|leukocyte activation (GO:0045321)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			CTGAAGGTCTTCCCACACTCA	0.527																																																0													57	64	62					7																	99669236		2202	4300	6502	SO:0001583	missense	7551			AF027136	CCDS43618.1, CCDS43619.1	7q22.1	2013-01-08	2006-05-05					"Zinc fingers, C2H2-type", "-"	13089	protein-coding gene	gene with protein product		194510	"zinc finger protein 3 (A8-51)"				Standard	NM_032924		Approved	A8-51, KOX25, PP838, FLJ20216, HF.12, Zfp113	uc003usr.4	P17036		ENST00000424697.1:c.871A>G	chr7.hg19:g.99669236T>C	ENSP00000415358:p.Lys291Glu		D6W5U0|P13683|Q9HBR4|Q9NNX8|Q9NXJ1|Q9UC15|Q9UC16	Missense_Mutation	SNP	ENST00000424697.1	hg19	CCDS43619.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.498565	0.85069	.	.	ENSG00000166526	ENST00000424697;ENST00000303915;ENST00000299667	T;T;T	0.35973	1.28;1.28;1.28	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	0.56097	D	0.000028	T	0.60547	0.2277	M	0.80028	2.48	0.53005	D	0.99996	D;D	0.89917	0.998;1.0	D;D	0.91635	0.991;0.999	T	0.66172	-0.5990	10	0.87932	D	0	-36.512	12.2643	0.54668	0.0:0.0:0.0:1.0	.	274;291	B3KRP4;P17036	.;ZNF3_HUMAN	E	291	ENSP00000415358:K291E;ENSP00000306372:K291E;ENSP00000299667:K291E	ENSP00000299667:K291E	K	-	1	0	ZNF3	99507172	0.994000	0.37717	1.000000	0.80357	0.995000	0.86356	2.522000	0.45572	2.075000	0.62263	0.533000	0.62120	AAG		0.527	ZNF3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336247.3	NM_017715		C	99669236	T	C	99669236	3	2	809	1	0	0	0	0	1	0	0	0	17834	1792	62	3	602	3	ZNF3	7	99669236	Missense_Mutation	SNP	T	TCGA-UZ-A9PX-01A-11D-A42J-10	94314576	99669236	59469427	42	48444											
HIPK2	28996	hgsc.bcm.edu	37	7	139311504	139311504	+	Missense_Mutation	SNP	T	T	C			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr7:139311504T>C	ENST00000406875.3	-	6	1556	c.1462A>G	c.(1462-1464)Agc>Ggc	p.S488G	HIPK2_ENST00000342645.6_Missense_Mutation_p.S488G|HIPK2_ENST00000428878.2_Missense_Mutation_p.S488G	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	488	Interaction with DAXX.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					AACATGTCGCTCCCTTCCAAA	0.507																																																0													174	175	175					7																	139311504		2001	4177	6178	SO:0001583	missense	28996			AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"homeodomain-interacting protein kinase 2"			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.1462A>G	chr7.hg19:g.139311504T>C	ENSP00000385571:p.Ser488Gly		Q75MR7|Q8WWI4|Q9H2Y1	Missense_Mutation	SNP	ENST00000406875.3	hg19		.	.	.	.	.	.	.	.	.	.	T	15.60	2.880967	0.51801	.	.	ENSG00000064393	ENST00000406875;ENST00000428878;ENST00000342645	T;T;T	0.20598	2.06;2.06;2.06	5.67	5.67	0.87782	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	0.41442	0.1159	.	.	.	0.52501	D	0.999952	D;P	0.63046	0.992;0.525	D;B	0.76071	0.987;0.158	T	0.11084	-1.0602	8	0.19590	T	0.45	.	15.9026	0.79392	0.0:0.0:0.0:1.0	.	488;488	Q9H2X6;Q9H2X6-3	HIPK2_HUMAN;.	G	488	ENSP00000385571:S488G;ENSP00000413724:S488G;ENSP00000343108:S488G	ENSP00000343108:S488G	S	-	1	0	HIPK2	138962044	1.000000	0.71417	0.844000	0.33320	0.847000	0.48162	7.986000	0.88173	2.163000	0.67991	0.368000	0.22195	AGC		0.507	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349430.3	NM_022740		C	139311504	T	C	139311504	3	2	809	1	0	0	0	0	1	0	0	0	7119	1551	54	3	2174	3	HIPK2	7	139311504	Missense_Mutation	SNP	T	TCGA-UZ-A9PX-01A-11D-A42J-10	39642268	139311504	19827159	43	48445											
OR2F1	26211	hgsc.bcm.edu	37	7	143657752	143657752	+	Missense_Mutation	SNP	C	C	G			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr7:143657752C>G	ENST00000392899.1	+	1	726	c.689C>G	c.(688-690)tCc>tGc	p.S230C	RP4-669B10.3_ENST00000466281.1_lincRNA	NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	230					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					AAGATCCAGTCCAGAGAAGGA	0.493																																																0													183	161	168					7																	143657752		2203	4300	6503	SO:0001583	missense	26211			U56421	CCDS5887.1	7q35	2013-06-03	2013-06-03		ENSG00000213215	ENSG00000213215		"GPCR / Class A : Olfactory receptors"	8246	protein-coding gene	gene with protein product		608497	"olfactory receptor, family 2, subfamily F, member 1"	OR2F4, OR2F5, OR2F3, OR2F3P		9500546	Standard	NM_012369		Approved	OLF3, OR7-140, OR7-139, OR14-60	uc003wds.1	Q13607	OTTHUMG00000157771	ENST00000392899.1:c.689C>G	chr7.hg19:g.143657752C>G	ENSP00000376633:p.Ser230Cys		A4D2G1|Q6IFP7|Q96R49|Q9UDX1	Missense_Mutation	SNP	ENST00000392899.1	hg19	CCDS5887.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.925090	0.52759	.	.	ENSG00000213215	ENST00000392899	T	0.00575	6.46	5.53	5.53	0.82687	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000064	T	0.04407	0.0121	M	0.91354	3.2	0.43913	D	0.996555	D	0.89917	1.0	D	0.91635	0.999	T	0.01608	-1.1313	10	0.87932	D	0	-33.0786	17.0114	0.86407	0.0:1.0:0.0:0.0	.	230	Q13607	OR2F1_HUMAN	C	230	ENSP00000376633:S230C	ENSP00000376633:S230C	S	+	2	0	OR2F1	143288685	0.411000	0.25384	0.245000	0.24217	0.417000	0.31264	2.968000	0.49224	2.871000	0.98454	0.655000	0.94253	TCC		0.493	OR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349581.1			G	143657752	C	G	143657752	3	3	809	1	0	0	0	0	1	0	0	0	10998	855	30	4	691	4	OR2F1	7	143657752	Missense_Mutation	SNP	C	TCGA-UZ-A9PX-01A-11D-A42J-10	4346248	143657752	15480911	44	48446											
ATP6V1B2	526	hgsc.bcm.edu	37	8	20077779	20077779	+	Missense_Mutation	SNP	T	T	C			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr8:20077779T>C	ENST00000276390.2	+	14	1442	c.1402T>C	c.(1402-1404)Tac>Cac	p.Y468H		NM_001693.3	NP_001684.2	P21281	VATB2_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2	468					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|ruffle (GO:0001726)	ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			endometrium(1)|kidney(2)|lung(5)|prostate(1)	9				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)	Gallium nitrate(DB05260)	TTAAGGTCCTTACGAAAATCG	0.388																																					Pancreas(119;1230 1726 3901 4036 31644)											0													102	99	100					8																	20077779		2203	4300	6503	SO:0001583	missense	526			L35249	CCDS6014.1	8p21.3	2010-04-21	2006-01-13	2002-05-10	ENSG00000147416	ENSG00000147416	3.6.3.14	"ATPases / V-type"	854	protein-coding gene	gene with protein product		606939	"ATPase, H+ transporting, lysosomal (vacuolar proton pump), beta polypeptide, 56/58kD, isoform 2", "ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B, isoform 2"	VPP3, ATP6B2		2145275, 14580332	Standard	NM_001693		Approved	VATB, Vma2, HO57	uc003wzp.3	P21281	OTTHUMG00000131073	ENST00000276390.2:c.1402T>C	chr8.hg19:g.20077779T>C	ENSP00000276390:p.Tyr468His		B2R5Z3|D3DSQ5|Q14544|Q15859|Q96IR0	Missense_Mutation	SNP	ENST00000276390.2	hg19	CCDS6014.1	.	.	.	.	.	.	.	.	.	.	T	16.87	3.242329	0.58995	.	.	ENSG00000147416	ENST00000276390;ENST00000542368	T	0.79554	-1.28	5.32	5.32	0.75619	ATPase, F1/V1/A1 complex, alpha/beta subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.83220	0.5207	M	0.70108	2.13	0.80722	D	1	B	0.32507	0.373	B	0.41202	0.35	D	0.84288	0.0498	10	0.66056	D	0.02	-15.2107	14.392	0.66986	0.0:0.0:0.0:1.0	.	468	P21281	VATB2_HUMAN	H	468;342	ENSP00000276390:Y468H	ENSP00000276390:Y468H	Y	+	1	0	ATP6V1B2	20122059	1.000000	0.71417	0.990000	0.47175	0.969000	0.65631	8.040000	0.89188	2.134000	0.65973	0.460000	0.39030	TAC		0.388	ATP6V1B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253732.1	NM_001693		C	20077779	T	C	20077779	3	2	809	1	0	0	0	0	1	0	0	0	1179	1754	61	3	1456	3	ATP6V1B2	8	20077779	Missense_Mutation	SNP	T	TCGA-UZ-A9PX-01A-11D-A42J-10		20077779	126286243	45	48447											
PLEC	5339	hgsc.bcm.edu	37	8	144995292	144995292	+	Silent	SNP	G	G	T	rs200383203	byFrequency	TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr8:144995292G>T	ENST00000322810.4	-	32	9277	c.9108C>A	c.(9106-9108)tcC>tcA	p.S3036S	PLEC_ENST00000356346.3_Silent_p.S2885S|PLEC_ENST00000398774.2_Silent_p.S2867S|PLEC_ENST00000354958.2_Silent_p.S2877S|PLEC_ENST00000436759.2_Silent_p.S2926S|PLEC_ENST00000345136.3_Silent_p.S2899S|PLEC_ENST00000527096.1_Silent_p.S2922S|PLEC_ENST00000354589.3_Silent_p.S2899S|PLEC_ENST00000357649.2_Silent_p.S2903S	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3036	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						CCCGGGCCTCGGAGTCAGTGT	0.617																																																0													58	66	63					8																	144995292		2203	4300	6503	SO:0001819	synonymous_variant	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.9108C>A	chr8.hg19:g.144995292G>T			Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	hg19	CCDS43772.1																																																																																				0.617	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		T	144995292	G	T	144995292	2	4	809	1	0	0	0	0	0	0	0	1	12054	1103	39	4		4	PLEC	8	144995292	Silent	SNP	G	TCGA-UZ-A9PX-01A-11D-A42J-10	124917513	144995292	1368730	46	48448											
C9orf93	203238	hgsc.bcm.edu	37	9	15724954	15724954	+	Missense_Mutation	SNP	G	G	C			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr9:15724954G>C	ENST00000380701.3	+	14	2000	c.1672G>C	c.(1672-1674)Gct>Cct	p.A558P	CCDC171_ENST00000297641.3_Missense_Mutation_p.A558P	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	558																	GCTTTCCCAGGCTTTCCATAA	0.428																																																0													76	78	78					9																	15724954		2203	4300	6503	SO:0001583	missense	203238			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.1672G>C	chr9.hg19:g.15724954G>C	ENSP00000370077:p.Ala558Pro		B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Missense_Mutation	SNP	ENST00000380701.3	hg19	CCDS6481.1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.580851	0.65992	.	.	ENSG00000164989	ENST00000297641;ENST00000380701	T;T	0.56103	0.48;0.48	5.63	3.81	0.43845	.	0.436641	0.26773	N	0.022576	T	0.52789	0.1756	L	0.27053	0.805	0.80722	D	1	P;P;P	0.48589	0.912;0.912;0.912	P;P;P	0.54759	0.76;0.696;0.76	T	0.47812	-0.9088	10	0.31617	T	0.26	-0.6344	15.1024	0.72292	0.0788:0.0:0.9212:0.0	.	566;558;558	B7ZM22;Q6TFL3-3;Q6TFL3	.;.;CI093_HUMAN	P	558	ENSP00000297641:A558P;ENSP00000370077:A558P	ENSP00000297641:A558P	A	+	1	0	C9orf93	15714954	1.000000	0.71417	0.997000	0.53966	0.951000	0.60555	3.772000	0.55325	0.872000	0.35775	0.655000	0.94253	GCT		0.428	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051768.4	NM_173550		C	15724954	G	C	15724954	3	2	809	1	0	0	0	0	1	0	0	0	2508	1203	42	4	1722	4	C9orf93	9	15724954	Missense_Mutation	SNP	G	TCGA-UZ-A9PX-01A-11D-A42J-10		15724954	125488477	47	48449											
PRUNE2	158471	hgsc.bcm.edu	37	9	79322239	79322239	+	Missense_Mutation	SNP	T	T	C			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr9:79322239T>C	ENST00000376718.3	-	8	5074	c.4951A>G	c.(4951-4953)Aca>Gca	p.T1651A	PRUNE2_ENST00000428286.1_Missense_Mutation_p.T1292A	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1651					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						TCCTGATGTGTCCCTGAATGT	0.413																																																0													60	51	53					9																	79322239		1568	3582	5150	SO:0001583	missense	158471			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.4951A>G	chr9.hg19:g.79322239T>C	ENSP00000365908:p.Thr1651Ala		B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	hg19	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.001|0.001	-2.928036|-2.928036	0.00054|0.00054	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000426088|ENST00000376718;ENST00000428286;ENST00000422033	.|T;T	.|0.36520	.|1.27;1.25	4.88|4.88	0.901|0.901	0.19284|0.19284	.|.	.|0.433490	.|0.19678	.|N	.|0.108589	T|T	0.09158|0.09158	0.0226|0.0226	N|N	0.01109|0.01109	-1.01|-1.01	0.09310|0.09310	N|N	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.38090|0.38090	-0.9677|-0.9677	5|10	.|0.02654	.|T	.|1	-0.1643|-0.1643	7.7278|7.7278	0.28769|0.28769	0.0:0.6452:0.0:0.3548|0.0:0.6452:0.0:0.3548	.|.	.|1651	.|Q8WUY3	.|PRUN2_HUMAN	G|A	972|1651;1292;1650	.|ENSP00000365908:T1651A;ENSP00000397425:T1292A	.|ENSP00000365908:T1651A	D|T	-|-	2|1	0|0	PRUNE2|PRUNE2	78512059|78512059	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.026000|0.026000	0.11368|0.11368	-0.115000|-0.115000	0.10741|0.10741	0.049000|0.049000	0.15920|0.15920	-0.242000|-0.242000	0.12053|0.12053	GAC|ACA		0.413	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		C	79322239	T	C	79322239	3	2	809	1	0	0	0	0	1	0	0	0	12646	1667	58	3	4363	3	PRUNE2	9	79322239	Missense_Mutation	SNP	T	TCGA-UZ-A9PX-01A-11D-A42J-10	63597285	79322239	61891192	48	48450											
RNF20	56254	hgsc.bcm.edu	37	9	104309714	104309714	+	Missense_Mutation	SNP	A	A	G			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr9:104309714A>G	ENST00000389120.3	+	9	1096	c.1006A>G	c.(1006-1008)Aaa>Gaa	p.K336E	AL591377.1_ENST00000584534.1_RNA	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	336					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)		TGAGGAGAACAAAGAGTTGGC	0.408																																																0													73	74	74					9																	104309714		2203	4300	6503	SO:0001583	missense	56254			AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"RING-type (C3HC4) zinc fingers"	10062	protein-coding gene	gene with protein product	"BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"	607699	"ring finger protein 20"			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.1006A>G	chr9.hg19:g.104309714A>G	ENSP00000373772:p.Lys336Glu		A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Missense_Mutation	SNP	ENST00000389120.3	hg19	CCDS35084.1	.	.	.	.	.	.	.	.	.	.	A	16.80	3.222742	0.58668	.	.	ENSG00000155827	ENST00000389120	T	0.39592	1.07	5.41	5.41	0.78517	.	0.130255	0.64402	D	0.000001	T	0.33000	0.0848	L	0.46157	1.445	0.46416	D	0.999031	B	0.16603	0.018	B	0.11329	0.006	T	0.12243	-1.0555	10	0.08381	T	0.77	-24.3341	12.0138	0.53303	0.8558:0.1442:0.0:0.0	.	336	Q5VTR2	BRE1A_HUMAN	E	336	ENSP00000373772:K336E	ENSP00000373772:K336E	K	+	1	0	RNF20	103349535	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	4.562000	0.60816	2.174000	0.68829	0.460000	0.39030	AAA		0.408	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356402.1	NM_019592		G	104309714	A	G	104309714	3	3	809	1	0	0	0	0	1	0	0	0	13479	131	5	3	1036	3	RNF20	9	104309714	Missense_Mutation	SNP	A	TCGA-UZ-A9PX-01A-11D-A42J-10	24987475	104309714	36903717	49	48451											
SVEP1	79987	hgsc.bcm.edu	37	9	113241924	113241924	+	Silent	SNP	C	C	T			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr9:113241924C>T	ENST00000401783.2	-	13	2814	c.2478G>A	c.(2476-2478)ctG>ctA	p.L826L	SVEP1_ENST00000374469.1_Silent_p.L803L|SVEP1_ENST00000374461.1_Silent_p.L803L|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Silent_p.L826L	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	826					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						CCATTTTTCCCAGGGTCGTCT	0.388																																																0													242	234	236					9																	113241924		1844	4091	5935	SO:0001819	synonymous_variant	79987			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.2478G>A	chr9.hg19:g.113241924C>T			Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Silent	SNP	ENST00000401783.2	hg19	CCDS48004.1																																																																																				0.388	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				T	113241924	C	T	113241924	2	4	809	1	0	0	0	0	0	0	0	1	15425	581	21	2		2	SVEP1	9	113241924	Silent	SNP	C	TCGA-UZ-A9PX-01A-11D-A42J-10	8932210	113241924	27971507	50	48452											
C9orf84	158401	hgsc.bcm.edu	37	9	114484785	114484785	+	Missense_Mutation	SNP	G	G	C			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr9:114484785G>C	ENST00000318737.4	-	13	1971	c.1843C>G	c.(1843-1845)Cct>Gct	p.P615A	C9orf84_ENST00000394779.3_Missense_Mutation_p.P576A|C9orf84_ENST00000394777.4_Missense_Mutation_p.P576A|C9orf84_ENST00000374287.3_Missense_Mutation_p.P615A	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	615										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTAGCAGTAGGGAGGGTACAC	0.398																																																0													110	108	108					9																	114484785		2203	4300	6503	SO:0001583	missense	158401			AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.1843C>G	chr9.hg19:g.114484785G>C	ENSP00000322108:p.Pro615Ala		A2A2V3|Q2M1H8|Q96M73	Missense_Mutation	SNP	ENST00000318737.4	hg19	CCDS6781.3	.	.	.	.	.	.	.	.	.	.	G	11.93	1.785821	0.31593	.	.	ENSG00000165181	ENST00000394779;ENST00000394777;ENST00000394778;ENST00000374287;ENST00000318737	T;T;T;T	0.05382	3.58;3.45;3.58;3.58	5.8	4.91	0.64330	.	0.253301	0.28630	N	0.014667	T	0.06690	0.0171	L	0.32530	0.975	0.09310	N	1	P;P;P	0.40970	0.734;0.734;0.734	B;B;B	0.43478	0.421;0.421;0.421	T	0.33137	-0.9880	10	0.22706	T	0.39	-8.4088	9.0522	0.36383	0.079:0.2432:0.6777:0.0	.	576;615;576	A6PVK7;Q5VXU9;A2A2V3	.;CI084_HUMAN;.	A	576;576;229;615;615	ENSP00000378259:P576A;ENSP00000378257:P576A;ENSP00000363405:P615A;ENSP00000322108:P615A	ENSP00000322108:P615A	P	-	1	0	C9orf84	113524606	0.993000	0.37304	0.590000	0.28732	0.735000	0.41995	2.883000	0.48554	1.478000	0.48253	0.561000	0.74099	CCT		0.398	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053656.2	NM_173521		C	114484785	G	C	114484785	3	2	809	1	0	0	0	0	1	0	0	0	2502	1232	43	4	2547	4	C9orf84	9	114484785	Missense_Mutation	SNP	G	TCGA-UZ-A9PX-01A-11D-A42J-10	1242861	114484785	26728646	51	48453											
ARHGAP22	58504	hgsc.bcm.edu	37	10	49659125	49659127	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	GAA	GAA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr10:49659125_49659127delGAA	ENST00000249601.4	-	9	1341_1343	c.1045_1047delTTC	c.(1045-1047)ttcdel	p.F349del	ARHGAP22_ENST00000374170.1_In_Frame_Del_p.F190del|ARHGAP22_ENST00000417912.2_In_Frame_Del_p.F365del|ARHGAP22_ENST00000477708.2_In_Frame_Del_p.F182del|ARHGAP22_ENST00000435790.2_In_Frame_Del_p.F355del|ARHGAP22_ENST00000374172.1_In_Frame_Del_p.F240del|ARHGAP22_ENST00000417247.2_In_Frame_Del_p.F259del	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	349	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				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						CCGGTGCCGTGAAGAGCTGGCTG	0.685																																																0																																										SO:0001651	inframe_deletion	58504			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.1045_1047delTTC	chr10.hg19:g.49659125_49659127delGAA	ENSP00000249601:p.Phe349del		A0AVP7|A5YM75|B4DED8|B9EGA0|C9JDM2|O00152|Q6ZSB0	In_Frame_Del	DEL	ENST00000249601.4	hg19	CCDS7227.1																																																																																				0.685	ARHGAP22-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358767.1	NM_021226		-	49659127	GAA	-	49659125	7	5	809	1	0	1	0	1	0	0	0	0	872	1281	45	0	1057	0	ARHGAP22	10	49659125	In_Frame_Del	DEL	GAA	TCGA-UZ-A9PX-01A-11D-A42J-10		49659125	85875622	52	48454											
TTC18	118491	hgsc.bcm.edu	37	10	75051507	75051507	+	Silent	SNP	C	C	T			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr10:75051507C>T	ENST00000310715.3	-	19	2241	c.2121G>A	c.(2119-2121)ttG>ttA	p.L707L	TTC18_ENST00000340329.3_Intron|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000401621.2_Silent_p.L707L|TTC18_ENST00000394865.1_Silent_p.L707L|TTC18_ENST00000355577.3_Silent_p.L176L	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN		707						extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					CACCACACAGCAACAAGCTGA	0.428																																																0													111	88	96					10																	75051507		2203	4300	6503	SO:0001819	synonymous_variant	118491																														ENST00000310715.3:c.2121G>A	chr10.hg19:g.75051507C>T			C9JIZ9|Q5T0M4|Q5T0M9|Q5T0N0|Q69YH9|Q8IYZ8|Q8N7D5|Q8NI30|Q8NI31	Silent	SNP	ENST00000310715.3	hg19	CCDS7324.3																																																																																				0.428	TTC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				T	75051507	C	T	75051507	2	4	809	1	0	0	0	0	0	0	0	1	16690	709	25	2		2	TTC18	10	75051507	Silent	SNP	C	TCGA-UZ-A9PX-01A-11D-A42J-10	25392382	75051507	60483240	53	48455											
MYOF	26509	hgsc.bcm.edu	37	10	95076511	95076511	+	Frame_Shift_Del	DEL	C	C	-			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr10:95076511delC	ENST00000359263.4	-	50	5657	c.5658delG	c.(5656-5658)cagfs	p.Q1886fs	MYOF_ENST00000371501.4_Frame_Shift_Del_p.Q1886fs|MYOF_ENST00000371502.4_Frame_Shift_Del_p.Q1876fs|MYOF_ENST00000358334.5_Frame_Shift_Del_p.Q1873fs	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1886					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						TGTCCCATATCTGAATGATCA	0.398																																																0													141	130	134					10																	95076511		1854	4095	5949	SO:0001589	frameshift_variant	26509			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.5658delG	chr10.hg19:g.95076511delC	ENSP00000352208:p.Gln1886fs		B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Frame_Shift_Del	DEL	ENST00000359263.4	hg19	CCDS41551.1																																																																																				0.398	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451		-	95076511	C	-	95076511	7	5	809	1	0	1	0	1	0	0	0	0	10091	912	32	0	547	0	MYOF	10	95076511	Frame_Shift_Del	DEL	C	TCGA-UZ-A9PX-01A-11D-A42J-10	20025004	95076511	40458236	54	48456											
ZDHHC16	84287	hgsc.bcm.edu	37	10	99213325	99213327	+	In_Frame_Del	DEL	TAC	TAC	-			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	TAC	TAC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr10:99213325_99213327delTAC	ENST00000370854.3	+	6	784_786	c.595_597delTAC	c.(595-597)tacdel	p.Y199del	ZDHHC16_ENST00000352634.4_In_Frame_Del_p.Y199del|ZDHHC16_ENST00000370842.2_In_Frame_Del_p.Y199del|ZDHHC16_ENST00000370846.4_Intron|ZDHHC16_ENST00000495735.1_3'UTR|ZDHHC16_ENST00000353979.3_Intron|ZDHHC16_ENST00000393760.1_In_Frame_Del_p.Y199del|ZDHHC16_ENST00000345745.5_In_Frame_Del_p.Y134del	NM_032327.2	NP_115703.2	Q969W1	ZDH16_HUMAN	zinc finger, DHHC-type containing 16	199					apoptotic process (GO:0006915)|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)			kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	14		Colorectal(252;0.0846)		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)		TAACCATCGGTACTTCTTCTCTT	0.488																																																0																																										SO:0001651	inframe_deletion	84287			AF258563	CCDS7460.1, CCDS7461.1, CCDS7462.1, CCDS7463.1, CCDS73176.1	10q24.1	2008-05-02			ENSG00000171307	ENSG00000171307		"Zinc fingers, DHHC-type"	20714	protein-coding gene	gene with protein product						12021275	Standard	NM_198043		Approved	APH2	uc001knk.3	Q969W1	OTTHUMG00000018847	ENST00000370854.3:c.595_597delTAC	chr10.hg19:g.99213325_99213327delTAC	ENSP00000359891:p.Tyr199del		D3DR52|D3DR53|D3DR54|Q5JTG7|Q5JTH0|Q8N4Z6|Q8WY84|Q9BSV3	In_Frame_Del	DEL	ENST00000370854.3	hg19	CCDS7460.1																																																																																				0.488	ZDHHC16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049658.2	NM_032327		-	99213327	TAC	-	99213325	7	5	809	1	0	1	0	1	0	0	0	0	17611	1638	57	0	613	0	ZDHHC16	10	99213325	In_Frame_Del	DEL	TAC	TCGA-UZ-A9PX-01A-11D-A42J-10	4136814	99213325	36321422	55	48457			1	135		2	2	14	N	TC_TAC	4.451277e-05
ZDHHC16	84287	hgsc.bcm.edu	37	10	99213338	99213339	+	Missense_Mutation	DNP	TC	TC	CT			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	T|C	T|C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr10:99213338_99213339TC>CT	ENST00000370854.3	+	6	797_798	c.608_609TC>CT	c.(607-609)tTC>tCT	p.F203S	ZDHHC16_ENST00000352634.4_Missense_Mutation_p.F203S|ZDHHC16_ENST00000370842.2_Missense_Mutation_p.F203S|ZDHHC16_ENST00000370846.4_Intron|ZDHHC16_ENST00000495735.1_3'UTR|ZDHHC16_ENST00000353979.3_Intron|ZDHHC16_ENST00000393760.1_Missense_Mutation_p.F203S|ZDHHC16_ENST00000345745.5_Missense_Mutation_p.F138S	NM_032327.2	NP_115703.2	Q969W1	ZDH16_HUMAN	zinc finger, DHHC-type containing 16	203					apoptotic process (GO:0006915)|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)			kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	14		Colorectal(252;0.0846)		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)		TTCTTCTCTTTCTGCTTTTTCA	0.47																																																0																																										SO:0001583	missense	84287			AF258563	CCDS7460.1, CCDS7461.1, CCDS7462.1, CCDS7463.1, CCDS73176.1	10q24.1	2008-05-02			ENSG00000171307	ENSG00000171307		"Zinc fingers, DHHC-type"	20714	protein-coding gene	gene with protein product						12021275	Standard	NM_198043		Approved	APH2	uc001knk.3	Q969W1	OTTHUMG00000018847	Exception_encountered	chr10.hg19:g.99213338_99213339delinsCT	ENSP00000359891:p.Phe203Ser		D3DR52|D3DR53|D3DR54|Q5JTG7|Q5JTH0|Q8N4Z6|Q8WY84|Q9BSV3	Missense_Mutation|Silent	SNP	ENST00000370854.3	hg19	CCDS7460.1																																																																																				0.47	ZDHHC16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049658.2	NM_032327		CT	99213339	TC	CT	99213338	3	2	809	1	0	0	0	0	1	0	0	0	17611	1783	62	3	626	3	ZDHHC16	10	99213338	Missense_Mutation	DNP	TC	TCGA-UZ-A9PX-01A-11D-A42J-10	13	99213338	36321409	56	48458			1	135		2	2	14	N	TC_TAC	4.451277e-05
FAM160B1	57700	hgsc.bcm.edu	37	10	116606357	116606357	+	Missense_Mutation	SNP	C	C	A			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr10:116606357C>A	ENST00000369248.4	+	11	1773	c.1438C>A	c.(1438-1440)Caa>Aaa	p.Q480K	FAM160B1_ENST00000369250.3_Missense_Mutation_p.Q480K	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	480										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						ACATCTTTTACAAAAACCCAA	0.299																																																0													70	69	69					10																	116606357		2203	4300	6503	SO:0001583	missense	57700			AB046820	CCDS31290.1, CCDS44480.1	10q26.11	2008-06-05	2008-06-05	2008-06-05	ENSG00000151553	ENSG00000151553			29320	protein-coding gene	gene with protein product			"KIAA1600"	KIAA1600		10997877	Standard	NM_020940		Approved	bA106M7.3	uc001lcb.3	Q5W0V3	OTTHUMG00000019092	ENST00000369248.4:c.1438C>A	chr10.hg19:g.116606357C>A	ENSP00000358251:p.Gln480Lys		Q5H9P7|Q5W0V2|Q8IY76|Q9HCH2	Missense_Mutation	SNP	ENST00000369248.4	hg19	CCDS31290.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.722985	0.89298	.	.	ENSG00000151553	ENST00000369248;ENST00000369250	T;T	0.30448	1.53;1.53	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.49201	0.1543	M	0.76574	2.34	0.80722	D	1	P;P	0.48911	0.917;0.734	P;B	0.55508	0.777;0.325	T	0.38564	-0.9655	10	0.07990	T	0.79	-24.5865	20.1338	0.98010	0.0:1.0:0.0:0.0	.	480;480	Q5W0V3-2;Q5W0V3	.;F16B1_HUMAN	K	480	ENSP00000358251:Q480K;ENSP00000358253:Q480K	ENSP00000358251:Q480K	Q	+	1	0	FAM160B1	116596347	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.500000	0.81588	2.770000	0.95276	0.655000	0.94253	CAA		0.299	FAM160B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050499.1	XM_049351		A	116606357	C	A	116606357	3	1	809	1	0	0	0	0	1	0	0	0	5472	479	17	4	1480	4	FAM160B1	10	116606357	Missense_Mutation	SNP	C	TCGA-UZ-A9PX-01A-11D-A42J-10	17393019	116606357	18928390	57	48459											
MKI67	4288	hgsc.bcm.edu	37	10	129904535	129904535	+	Frame_Shift_Del	DEL	T	T	-			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr10:129904535delT	ENST00000368654.3	-	13	5944	c.5569delA	c.(5569-5571)atafs	p.I1857fs	MKI67_ENST00000368653.3_Frame_Shift_Del_p.I1497fs	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1857	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)				TTGCAGAGTATTTTTTTGGTA	0.483																																																0													237	241	240					10																	129904535		2203	4300	6503	SO:0001589	frameshift_variant	4288			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.5569delA	chr10.hg19:g.129904535delT	ENSP00000357643:p.Ile1857fs		Q5VWH2	Frame_Shift_Del	DEL	ENST00000368654.3	hg19	CCDS7659.1																																																																																				0.483	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		-	129904535	T	-	129904535	7	5	809	1	0	1	0	1	0	0	0	0	9600	1493	52	0	4213	0	MKI67	10	129904535	Frame_Shift_Del	DEL	T	TCGA-UZ-A9PX-01A-11D-A42J-10	13298178	129904535	5630212	58	48460											
OR52B6	340980	hgsc.bcm.edu	37	11	5602863	5602863	+	Missense_Mutation	SNP	C	C	T	rs375173605		TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr11:5602863C>T	ENST00000345043.2	+	1	757	c.757C>T	c.(757-759)Cgc>Tgc	p.R253C	HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	253						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)		TCAAGATGCCCGCTCCAAGGC	0.512																																																0								C	CYS/ARG	1,4041		0,1,2020	217	232	227		757	3	0.5	11		227	0,8354		0,0,4177	no	missense	OR52B6	NM_001005162.2	180	0,1,6197	TT,TC,CC		0.0,0.0247,0.0081	benign	253/336	5602863	1,12395	2021	4177	6198	SO:0001583	missense	340980			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.757C>T	chr11.hg19:g.5602863C>T	ENSP00000341581:p.Arg253Cys		Q6IFI7	Missense_Mutation	SNP	ENST00000345043.2	hg19	CCDS41611.1	.	.	.	.	.	.	.	.	.	.	C	8.515	0.867481	0.17250	2.47E-4	0.0	ENSG00000187747	ENST00000345043	T	0.00337	8.05	4.99	3.05	0.35203	GPCR, rhodopsin-like superfamily (1);	0.218860	0.22458	U	0.059787	T	0.00328	0.0010	M	0.78637	2.42	0.21220	N	0.999759	P	0.35011	0.48	B	0.34346	0.18	T	0.36016	-0.9765	10	0.72032	D	0.01	.	7.8717	0.29569	0.325:0.5173:0.1577:0.0	.	253	Q8NGF0	O52B6_HUMAN	C	253	ENSP00000341581:R253C	ENSP00000341581:R253C	R	+	1	0	OR52B6	5559439	0.000000	0.05858	0.478000	0.27316	0.464000	0.32679	-1.090000	0.03372	0.638000	0.30545	0.650000	0.86243	CGC		0.512	OR52B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143397.1	NM_001005162		T	5602863	C	T	5602863	3	4	809	1	0	0	0	0	1	0	0	0	11115	652	23	1	759	1	OR52B6	11	5602863	Missense_Mutation	SNP	C	TCGA-UZ-A9PX-01A-11D-A42J-10		5602863	129403653	59	48461											
F2	2147	hgsc.bcm.edu	37	11	46747489	46747489	+	Missense_Mutation	SNP	G	G	C			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr11:46747489G>C	ENST00000311907.5	+	7	696	c.640G>C	c.(640-642)Gtc>Ctc	p.V214L	F2_ENST00000530231.1_Missense_Mutation_p.V214L	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	214	Kringle 2. {ECO:0000255|PROSITE- ProRule:PRU00121}.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell surface receptor signaling pathway (GO:0007166)|cellular protein metabolic process (GO:0044267)|cytosolic calcium ion homeostasis (GO:0051480)|fibrinolysis (GO:0042730)|leukocyte migration (GO:0050900)|multicellular organismal development (GO:0007275)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|negative regulation of proteolysis (GO:0045861)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900738)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of blood coagulation (GO:0030193)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|thrombospondin receptor activity (GO:0070053)			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|ART-123(DB05777)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Dabigatran etexilate(DB06695)|Drotrecogin alfa(DB00055)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Suramin(DB04786)|Ximelagatran(DB04898)	GGAGCAGTGTGTCCCTGATCG	0.647																																					Esophageal Squamous(147;1147 1808 2148 38609 51144)											0													67	61	63					11																	46747489		2201	4299	6500	SO:0001583	missense	2147			M33031	CCDS31476.1	11p11.2	2013-02-28			ENSG00000180210	ENSG00000180210	3.4.21.5	"Endogenous ligands"	3535	protein-coding gene	gene with protein product	"prepro-coagulation factor II"	176930					Standard	NM_000506		Approved		uc001ndf.4	P00734	OTTHUMG00000150344	ENST00000311907.5:c.640G>C	chr11.hg19:g.46747489G>C	ENSP00000308541:p.Val214Leu		B2R7F7|B4E1A7|Q4QZ40|Q53H04|Q53H06|Q69EZ7|Q7Z7P3|Q9UCA1	Missense_Mutation	SNP	ENST00000311907.5	hg19	CCDS31476.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.143|2.143	-0.396352|-0.396352	0.04899|0.04899	.|.	.|.	ENSG00000180210|ENSG00000180210	ENST00000446804|ENST00000311907;ENST00000530231;ENST00000442468	.|T;T;T	.|0.65549	.|-0.16;-0.16;-0.16	5.2|5.2	-3.55|-3.55	0.04639|0.04639	.|Kringle (4);Kringle-like fold (1);	.|0.978143	.|0.08402	.|N	.|0.951286	T|T	0.43919|0.43919	0.1269|0.1269	N|N	0.26042|0.26042	0.785|0.785	0.09310|0.09310	N|N	1|1	.|B	.|0.06786	.|0.001	.|B	.|0.12156	.|0.007	T|T	0.38714|0.38714	-0.9648|-0.9648	6|10	0.87932|0.87932	D|D	0|0	.|.	5.8666|5.8666	0.18779|0.18779	0.3517:0.2302:0.4182:0.0|0.3517:0.2302:0.4182:0.0	.|.	.|214	.|P00734	.|THRB_HUMAN	S|L	63|214;214;204	.|ENSP00000308541:V214L;ENSP00000433907:V214L;ENSP00000387413:V204L	ENSP00000406403:C63S|ENSP00000308541:V214L	C|V	+|+	2|1	0|0	F2|F2	46704065|46704065	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.045000|0.045000	0.14185|0.14185	-0.127000|-0.127000	0.10547|0.10547	-0.660000|-0.660000	0.05352|0.05352	-0.218000|-0.218000	0.12543|0.12543	TGT|GTC		0.647	F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317706.1			C	46747489	G	C	46747489	3	2	809	1	0	0	0	0	1	0	0	0	5344	1377	48	4	666	4	F2	11	46747489	Missense_Mutation	SNP	G	TCGA-UZ-A9PX-01A-11D-A42J-10	41144626	46747489	88259027	60	48462											
CARNS1	57571	hgsc.bcm.edu	37	11	67191541	67191541	+	Missense_Mutation	SNP	G	G	T			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr11:67191541G>T	ENST00000307823.3	+	9	2405	c.1953G>T	c.(1951-1953)gaG>gaT	p.E651D	CARNS1_ENST00000531040.1_Missense_Mutation_p.E748D|CARNS1_ENST00000445895.2_Missense_Mutation_p.E774D|CARNS1_ENST00000423745.2_Missense_Mutation_p.E651D	NM_020811.1	NP_065862.1	A5YM72	CRNS1_HUMAN	carnosine synthase 1	651	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.				ATP catabolic process (GO:0006200)|carnosine biosynthetic process (GO:0035499)		ATP binding (GO:0005524)|ATPase activity (GO:0016887)|carnosine synthase activity (GO:0047730)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)	11						TGGCACCAGAGCAGGAGGCAC	0.657																																																0													50	55	53					11																	67191541		2090	4206	6296	SO:0001583	missense	57571				CCDS44658.1, CCDS53667.1	11q13.1	2010-03-25	2010-03-25	2010-03-25	ENSG00000172508	ENSG00000172508			29268	protein-coding gene	gene with protein product		613368	"ATP-grasp domain containing 1"	ATPGD1		20097752	Standard	NM_020811		Approved	KIAA1394	uc010rpr.2	A5YM72		ENST00000307823.3:c.1953G>T	chr11.hg19:g.67191541G>T	ENSP00000308268:p.Glu651Asp		A8K1M3|B4DFC6|E9PK38|F5H427|Q8N467|Q9P2F3	Missense_Mutation	SNP	ENST00000307823.3	hg19	CCDS44658.1	.	.	.	.	.	.	.	.	.	.	G	7.607	0.674003	0.14841	.	.	ENSG00000172508	ENST00000531040;ENST00000307823;ENST00000542831;ENST00000423745;ENST00000445895	D;D;D;D	0.97831	-4.56;-4.56;-4.56;-4.56	5.07	5.07	0.68467	ATP-grasp fold (1);ATP-grasp fold, DUF201-type (1);ATP-grasp fold, subdomain 2 (1);	0.000000	0.64402	D	0.000017	D	0.91175	0.7220	N	0.11255	0.115	0.37414	D	0.913347	B;B	0.20988	0.015;0.05	B;B	0.17722	0.013;0.019	D	0.87313	0.2313	10	0.10902	T	0.67	-26.1766	7.3509	0.26691	0.0902:0.1717:0.7382:0.0	.	651;790	A5YM72;A5YM72-3	CRNS1_HUMAN;.	D	748;651;748;651;774	ENSP00000431670:E748D;ENSP00000308268:E651D;ENSP00000401519:E651D;ENSP00000389009:E774D	ENSP00000308268:E651D	E	+	3	2	CARNS1	66948117	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	1.888000	0.39708	2.364000	0.80123	0.549000	0.68633	GAG		0.657	CARNS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395501.1	NM_020811		T	67191541	G	T	67191541	3	4	809	1	0	0	0	0	1	0	0	0	2658	962	34	4	2356	4	CARNS1	11	67191541	Missense_Mutation	SNP	G	TCGA-UZ-A9PX-01A-11D-A42J-10	20444052	67191541	67814975	61	48463											
CWF19L2	143884	hgsc.bcm.edu	37	11	107326471	107326471	+	Missense_Mutation	SNP	C	C	G			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr11:107326471C>G	ENST00000282251.5	-	2	164	c.137G>C	c.(136-138)cGt>cCt	p.R46P	CWF19L2_ENST00000433523.1_Missense_Mutation_p.R46P	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	46							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)		AAGTTCTTTACGCCTTTCTTC	0.388																																																0													266	214	230					11																	107326471		692	1591	2283	SO:0001583	missense	143884			AK056905	CCDS8336.2	11q23.1	2005-09-22			ENSG00000152404	ENSG00000152404			26508	protein-coding gene	gene with protein product						14702039	Standard	NM_152434		Approved	FLJ32343	uc010rvp.2	Q2TBE0	OTTHUMG00000152975	ENST00000282251.5:c.137G>C	chr11.hg19:g.107326471C>G	ENSP00000282251:p.Arg46Pro		A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Missense_Mutation	SNP	ENST00000282251.5	hg19	CCDS8336.2	.	.	.	.	.	.	.	.	.	.	C	16.65	3.180931	0.57800	.	.	ENSG00000152404	ENST00000282251;ENST00000433523	T;T	0.25085	1.82;1.82	5.4	1.37	0.22104	.	.	.	.	.	T	0.29817	0.0745	M	0.77103	2.36	0.19945	N	0.999941	P	0.48503	0.911	B	0.43301	0.415	T	0.18335	-1.0340	9	0.72032	D	0.01	.	5.946	0.19219	0.1335:0.6434:0.0:0.2231	.	46	Q2TBE0	C19L2_HUMAN	P	46	ENSP00000282251:R46P;ENSP00000387533:R46P	ENSP00000282251:R46P	R	-	2	0	CWF19L2	106831681	0.116000	0.22171	0.120000	0.21714	0.983000	0.72400	1.251000	0.32862	0.007000	0.14760	-0.237000	0.12165	CGT		0.388	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328825.2	NM_152434		G	107326471	C	G	107326471	3	3	809	1	0	0	0	0	1	0	0	0	4074	536	19	4	2615	4	CWF19L2	11	107326471	Missense_Mutation	SNP	C	TCGA-UZ-A9PX-01A-11D-A42J-10	40134930	107326471	27680045	62	48464											
OR8D2	283160	hgsc.bcm.edu	37	11	124190009	124190009	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr11:124190009G>A	ENST00000357438.2	-	1	175	c.85C>T	c.(85-87)Ctc>Ttc	p.L29F		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	29						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(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)		AGGAACAGGAGGAAGAGTGGC	0.448																																																0													86	84	84					11																	124190009		2201	4299	6500	SO:0001583	missense	283160			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.85C>T	chr11.hg19:g.124190009G>A	ENSP00000350022:p.Leu29Phe		B9EH49|Q6IFR0	Missense_Mutation	SNP	ENST00000357438.2	hg19	CCDS31707.1	.	.	.	.	.	.	.	.	.	.	g	0.212	-1.036091	0.02029	.	.	ENSG00000197263	ENST00000357438	T	0.00455	7.31	3.42	-2.06	0.07298	.	0.369536	0.19376	N	0.115781	T	0.00178	0.0005	L	0.37466	1.105	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.49835	-0.8897	10	0.05436	T	0.98	.	0.4285	0.00467	0.3664:0.1321:0.2334:0.2681	.	29	Q9GZM6	OR8D2_HUMAN	F	29	ENSP00000350022:L29F	ENSP00000350022:L29F	L	-	1	0	OR8D2	123695219	0.000000	0.05858	0.011000	0.14972	0.500000	0.33767	-3.943000	0.00329	-0.405000	0.07599	0.395000	0.25975	CTC		0.448	OR8D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387286.1	NM_001002918		A	124190009	G	A	124190009	3	1	809	1	0	0	0	0	1	0	0	0	11234	1000	35	2	853	2	OR8D2	11	124190009	Missense_Mutation	SNP	G	TCGA-UZ-A9PX-01A-11D-A42J-10	16863538	124190009	10816507	63	48465											
ERC1	23085	hgsc.bcm.edu	37	12	1137356	1137356	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr12:1137356G>A	ENST00000397203.2	+	2	693	c.287G>A	c.(286-288)gGa>gAa	p.G96E	ERC1_ENST00000543086.3_Missense_Mutation_p.G96E|ERC1_ENST00000546231.2_Missense_Mutation_p.G96E|ERC1_ENST00000355446.5_Missense_Mutation_p.G96E|ERC1_ENST00000360905.4_Missense_Mutation_p.G96E|ERC1_ENST00000589028.1_Missense_Mutation_p.G96E			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	96					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)			CGTTCTGGGGGACGTCTGCCT	0.502																																																0													130	123	125					12																	1137356		2203	4300	6503	SO:0001583	missense	23085			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.287G>A	chr12.hg19:g.1137356G>A	ENSP00000380386:p.Gly96Glu		A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Missense_Mutation	SNP	ENST00000397203.2	hg19	CCDS8508.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.510591	0.64522	.	.	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000299183;ENST00000543086;ENST00000542302;ENST00000545948;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394	D;D;D;D;D;D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.82637	0.5080	N	0.24115	0.695	0.47778	D	0.999516	P;P;B	0.39424	0.617;0.673;0.399	B;B;B	0.39738	0.308;0.307;0.206	T	0.82575	-0.0389	10	0.45353	T	0.12	-21.4162	20.0621	0.97678	0.0:0.0:1.0:0.0	.	96;96;96	Q8IUD2-2;Q8IUD2-3;Q8IUD2	.;.;RB6I2_HUMAN	E	96	ENSP00000340054:G96E;ENSP00000380386:G96E;ENSP00000438546:G96E;ENSP00000445336:G96E;ENSP00000442976:G96E;ENSP00000442739:G96E;ENSP00000347621:G96E;ENSP00000354158:G96E;ENSP00000410064:G96E	ENSP00000299183:G96E	G	+	2	0	ERC1	1007617	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.334000	0.72944	2.750000	0.94351	0.655000	0.94253	GGA		0.502	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398380.2	NM_015064		A	1137356	G	A	1137356	3	1	809	1	0	0	0	0	1	0	0	0	5212	1174	41	2	289	2	ERC1	12	1137356	Missense_Mutation	SNP	G	TCGA-UZ-A9PX-01A-11D-A42J-10		1137356	132714539	64	48466											
DCP1B	196513	hgsc.bcm.edu	37	12	2061663	2061663	+	Silent	SNP	A	A	T			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr12:2061663A>T	ENST00000280665.6	-	7	1522	c.1443T>A	c.(1441-1443)gcT>gcA	p.A481A	DCP1B_ENST00000540622.1_Silent_p.A355A|DCP1B_ENST00000541700.1_5'Flank|DCP1B_ENST00000397173.4_Silent_p.A379A	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	481					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)			CAGAGCTCTGAGCGAGCACAG	0.527																																																0													81	83	82					12																	2061663		2203	4300	6503	SO:0001819	synonymous_variant	196513			AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"DCP1 decapping enzyme homolog B (S. cerevisiae)"			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.1443T>A	chr12.hg19:g.2061663A>T			B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Silent	SNP	ENST00000280665.6	hg19	CCDS31727.1																																																																																				0.527	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	NM_152640		T	2061663	A	T	2061663	2	4	809	1	0	0	0	0	0	0	0	1	4301	291	11	5		5	DCP1B	12	2061663	Silent	SNP	A	TCGA-UZ-A9PX-01A-11D-A42J-10	924307	2061663	131790232	65	48467											
ACVR1B	91	hgsc.bcm.edu	37	12	52379093	52379093	+	Missense_Mutation	SNP	C	C	T			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr12:52379093C>T	ENST00000257963.4	+	6	1174	c.1097C>T	c.(1096-1098)aCc>aTc	p.T366I	ACVR1B_ENST00000415850.2_Missense_Mutation_p.T366I|ACVR1B_ENST00000542485.1_Missense_Mutation_p.T314I|RNU6-574P_ENST00000384265.1_RNA|ACVR1B_ENST00000563121.1_3'UTR|ACVR1B_ENST00000426655.2_Missense_Mutation_p.T366I|ACVR1B_ENST00000541224.1_Missense_Mutation_p.T407I	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	366	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)	GTCACTGACACCATTGACATT	0.527																																																0													146	132	137					12																	52379093		2203	4300	6503	SO:0001583	missense	91				CCDS8816.1, CCDS44893.1, CCDS44894.1, CCDS44893.2, CCDS44894.2	12q13	2006-11-09			ENSG00000135503	ENSG00000135503			172	protein-coding gene	gene with protein product		601300		ACVRLK4		8397373	Standard	NM_020327		Approved	ALK4, SKR2, ActRIB	uc010snn.2	P36896	OTTHUMG00000167920	ENST00000257963.4:c.1097C>T	chr12.hg19:g.52379093C>T	ENSP00000257963:p.Thr366Ile		B7Z5L8|B7Z5W5|Q15479|Q15480|Q15481|Q15482	Missense_Mutation	SNP	ENST00000257963.4	hg19	CCDS8816.1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.315896	0.60524	.	.	ENSG00000135503	ENST00000257963;ENST00000541224;ENST00000426655;ENST00000415850;ENST00000542485	T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19	4.76	3.83	0.44106	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.051038	0.85682	D	0.000000	T	0.70684	0.3252	L	0.48260	1.515	0.80722	D	1	P;D;B;B	0.58268	0.919;0.982;0.372;0.344	P;D;B;B	0.64237	0.706;0.923;0.181;0.203	T	0.72418	-0.4300	10	0.51188	T	0.08	.	14.3487	0.66685	0.1493:0.8507:0.0:0.0	.	407;366;366;366	P36896-4;P36896;P36896-2;P36896-3	.;ACV1B_HUMAN;.;.	I	366;407;366;366;314	ENSP00000257963:T366I;ENSP00000442656:T407I;ENSP00000390477:T366I;ENSP00000397550:T366I;ENSP00000442885:T314I	ENSP00000257963:T366I	T	+	2	0	ACVR1B	50665360	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.651000	0.83577	1.302000	0.44855	0.563000	0.77884	ACC		0.527	ACVR1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397000.1	NM_020328		T	52379093	C	T	52379093	3	4	809	1	0	0	0	0	1	0	0	0	221	507	18	2	1246	2	ACVR1B	12	52379093	Missense_Mutation	SNP	C	TCGA-UZ-A9PX-01A-11D-A42J-10	50317430	52379093	81472802	66	48468											
SLC25A3	5250	hgsc.bcm.edu	37	12	98993879	98993879	+	Missense_Mutation	SNP	T	T	C			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr12:98993879T>C	ENST00000228318.3	+	6	911	c.791T>C	c.(790-792)gTt>gCt	p.V264A	SLC25A3_ENST00000552981.1_Missense_Mutation_p.V263A|SLC25A3_ENST00000401722.3_Missense_Mutation_p.V263A|SNORA53_ENST00000391141.1_RNA|SLC25A3_ENST00000188376.5_Missense_Mutation_p.V263A|SLC25A3_ENST00000548847.1_Missense_Mutation_p.V263A|SLC25A3_ENST00000549338.1_Missense_Mutation_p.V263A|SLC25A3_ENST00000551917.1_Missense_Mutation_p.V264A	NM_005888.3	NP_005879.1	Q00325	MPCP_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3	264					generation of precursor metabolites and energy (GO:0006091)|phosphate ion transmembrane transport (GO:0035435)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	phosphate ion carrier activity (GO:0015320)|protein complex binding (GO:0032403)|symporter activity (GO:0015293)			breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		GAGCAGCTGGTTGTAACATTT	0.398																																																0													117	99	105					12																	98993879		2203	4300	6503	SO:0001583	missense	5250				CCDS9065.1, CCDS9066.1	12q23.1	2013-05-22			ENSG00000075415	ENSG00000075415		"Solute carriers"	10989	protein-coding gene	gene with protein product		600370		PHC		8168843	Standard	NM_213611		Approved		uc001tfo.3	Q00325	OTTHUMG00000170212	ENST00000228318.3:c.791T>C	chr12.hg19:g.98993879T>C	ENSP00000228318:p.Val264Ala		B3KS34|Q7Z7N7|Q96A03	Missense_Mutation	SNP	ENST00000228318.3	hg19	CCDS9066.1	.	.	.	.	.	.	.	.	.	.	T	9.522	1.108656	0.20714	.	.	ENSG00000075415	ENST00000401722;ENST00000188376;ENST00000228318;ENST00000551917;ENST00000552981;ENST00000549338;ENST00000548847	T;T;T;T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.17	5.34	4.2	0.49525	Mitochondrial carrier domain (2);	0.219986	0.46758	N	0.000266	T	0.67363	0.2885	N	0.25647	0.755	0.58432	D	0.999999	B;B;B;B	0.09022	0.002;0.0;0.001;0.001	B;B;B;B	0.17979	0.012;0.006;0.02;0.005	T	0.58267	-0.7666	10	0.21014	T	0.42	-9.264	9.8807	0.41231	0.0:0.0779:0.0:0.9221	.	263;263;264;263	F8VVM2;B2RE88;Q00325;Q00325-2	.;.;MPCP_HUMAN;.	A	263;263;264;264;263;263;263	ENSP00000383898:V263A;ENSP00000188376:V263A;ENSP00000228318:V264A;ENSP00000447310:V264A;ENSP00000448708:V263A;ENSP00000447740:V263A;ENSP00000449166:V263A	ENSP00000188376:V263A	V	+	2	0	SLC25A3	97518010	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.469000	0.80959	0.986000	0.38683	0.533000	0.62120	GTT		0.398	SLC25A3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407989.1	NM_005888		C	98993879	T	C	98993879	3	2	809	1	0	0	0	0	1	0	0	0	14499	1725	60	3	935	3	SLC25A3	12	98993879	Missense_Mutation	SNP	T	TCGA-UZ-A9PX-01A-11D-A42J-10	46614786	98993879	34858016	67	48469											
HSPB8	26353	hgsc.bcm.edu	37	12	119617127	119617127	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr12:119617127G>A	ENST00000281938.2	+	1	681	c.10G>A	c.(10-12)Ggt>Agt	p.G4S	RP11-64B16.3_ENST00000538405.1_RNA|RP11-64B16.4_ENST00000535921.1_RNA	NM_014365.2	NP_055180.1	Q9UJY1	HSPB8_HUMAN	heat shock 22kDa protein 8	4					cell death (GO:0008219)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	14	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CATGGCTGACGGTCAGATGCC	0.612																																																0													50	61	57					12																	119617127		2203	4300	6503	SO:0001583	missense	26353			AF191017	CCDS9189.1	12q24.23	2014-09-17	2004-04-23					"Heat shock proteins / HSPB"	30171	protein-coding gene	gene with protein product		608014	"heat shock 27kDa protein 8"			10833516, 11085516	Standard	NM_014365		Approved	H11, E2IG1, HSP22, HspB8	uc001txb.3	Q9UJY1		ENST00000281938.2:c.10G>A	chr12.hg19:g.119617127G>A	ENSP00000281938:p.Gly4Ser		B2R6A6|Q6FIH3|Q9UKS3	Missense_Mutation	SNP	ENST00000281938.2	hg19	CCDS9189.1	.	.	.	.	.	.	.	.	.	.	G	9.471	1.095576	0.20471	.	.	ENSG00000152137	ENST00000281938	D	0.85556	-2.0	4.42	4.42	0.53409	.	0.256618	0.33631	N	0.004719	T	0.71187	0.3310	L	0.31664	0.95	0.42229	D	0.991888	B	0.27264	0.173	B	0.13407	0.009	T	0.65697	-0.6105	9	.	.	.	.	5.2215	0.15371	0.2542:0.0:0.7458:0.0	.	4	Q9UJY1	HSPB8_HUMAN	S	4	ENSP00000281938:G4S	.	G	+	1	0	HSPB8	118101510	0.981000	0.34729	0.940000	0.37924	0.516000	0.34256	2.064000	0.41432	2.294000	0.77228	0.563000	0.77884	GGT		0.612	HSPB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401647.1	NM_014365		A	119617127	G	A	119617127	3	1	809	1	0	0	0	0	1	0	0	0	7425	1116	39	1	12	1	HSPB8	12	119617127	Missense_Mutation	SNP	G	TCGA-UZ-A9PX-01A-11D-A42J-10	20623248	119617127	14234768	68	48470											
KL	9365	hgsc.bcm.edu	37	13	33628024	33628024	+	Frame_Shift_Del	DEL	A	A	-			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr13:33628024delA	ENST00000380099.3	+	2	948	c.940delA	c.(940-942)aaafs	p.K314fs	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_Frame_Shift_Del_p.K7fs	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	314	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)		CCACAGCATCAAAGAATGTCA	0.448																																																0													167	159	162					13																	33628024		2203	4300	6503	SO:0001589	frameshift_variant	9365			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.940delA	chr13.hg19:g.33628024delA	ENSP00000369442:p.Lys314fs		Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Frame_Shift_Del	DEL	ENST00000380099.3	hg19	CCDS9347.1																																																																																				0.448	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1			-	33628024	A	-	33628024	7	5	809	1	0	1	0	1	0	0	0	0	8333	131	5	0	946	0	KL	13	33628024	Frame_Shift_Del	DEL	A	TCGA-UZ-A9PX-01A-11D-A42J-10		33628024	81541854	69	48471											
DZIP1	22873	hgsc.bcm.edu	37	13	96293651	96293651	+	Silent	SNP	C	C	T			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr13:96293651C>T	ENST00000376829.2	-	5	1346	c.495G>A	c.(493-495)aaG>aaA	p.K165K	DZIP1_ENST00000466027.1_5'UTR|DZIP1_ENST00000347108.3_Silent_p.K165K|DZIP1_ENST00000361156.3_Silent_p.K165K|DZIP1_ENST00000361396.2_Silent_p.K165K	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	165					cilium assembly (GO:0042384)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			CCCCCGCCTGCTTGGTGAGCA	0.592																																																0													83	54	64					13																	96293651		2203	4300	6503	SO:0001819	synonymous_variant	22873			AB023213	CCDS9477.1, CCDS9478.1	13q32.1	2013-05-22	2013-05-22		ENSG00000134874	ENSG00000134874		"Zinc fingers, C2H2-type"	20908	protein-coding gene	gene with protein product		608671	"DAZ interacting protein 1"				Standard	NM_014934		Approved	KIAA0996, DZIP	uc001vmk.4	Q86YF9	OTTHUMG00000017224	ENST00000376829.2:c.495G>A	chr13.hg19:g.96293651C>T			Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Silent	SNP	ENST00000376829.2	hg19	CCDS9478.1																																																																																				0.592	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045496.3	NM_014934		T	96293651	C	T	96293651	2	4	809	1	0	0	0	0	0	0	0	1	4865	796	28	2		2	DZIP1	13	96293651	Silent	SNP	C	TCGA-UZ-A9PX-01A-11D-A42J-10	62665627	96293651	18876227	70	48472											
MUDENG	55745	hgsc.bcm.edu	37	14	57747111	57747111	+	Missense_Mutation	SNP	T	T	A			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr14:57747111T>A	ENST00000261558.3	+	3	1325	c.919T>A	c.(919-921)Tca>Aca	p.S307T	AP5M1_ENST00000431972.2_Missense_Mutation_p.S321T|AP5M1_ENST00000556723.1_3'UTR	NM_018229.3	NP_060699.3	Q9H0R1	AP5M1_HUMAN	adaptor-related protein complex 5, mu 1 subunit	307	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|cytosol (GO:0005829)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)											ACCTTTAGAGTCATTCAACTT	0.353																																																0													141	125	130					14																	57747111		2203	4300	6503	SO:0001583	missense	55745			AF094583	CCDS9729.1	14q22.2	2012-03-20	2012-03-20	2012-03-20	ENSG00000053770	ENSG00000053770			20192	protein-coding gene	gene with protein product	"Mu-2 related death-inducing gene"	614368	"chromosome 14 open reading frame 108", "MU-2/AP1M2 domain containing, death-inducing"	C14orf108, MUDENG		18395520	Standard	NM_018229		Approved	FLJ10813, MuD, mu5	uc001xcv.3	Q9H0R1	OTTHUMG00000140318	ENST00000261558.3:c.919T>A	chr14.hg19:g.57747111T>A	ENSP00000261558:p.Ser307Thr		O95354|Q6ZMD7|Q96DX3|Q9NVC5	Missense_Mutation	SNP	ENST00000261558.3	hg19	CCDS9729.1	.	.	.	.	.	.	.	.	.	.	T	7.432	0.638915	0.14386	.	.	ENSG00000053770	ENST00000261558;ENST00000431972	T;T	0.20200	2.09;2.09	5.96	3.58	0.41010	Clathrin adaptor, mu subunit, C-terminal (3);	0.377447	0.30901	N	0.008651	T	0.09992	0.0245	N	0.20685	0.6	0.40343	D	0.979055	B	0.02656	0.0	B	0.10450	0.005	T	0.19128	-1.0315	10	0.19147	T	0.46	.	2.013	0.03492	0.1366:0.1307:0.1425:0.5903	.	307	Q9H0R1	MUDEN_HUMAN	T	307;321	ENSP00000261558:S307T;ENSP00000390531:S321T	ENSP00000261558:S307T	S	+	1	0	MUDENG	56816864	0.995000	0.38212	0.999000	0.59377	0.983000	0.72400	1.162000	0.31786	1.044000	0.40200	0.496000	0.49642	TCA		0.353	AP5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276922.1	NM_018229		A	57747111	T	A	57747111	3	1	809	1	0	0	0	0	1	0	0	0	9985	1667	58	5	929	5	MUDENG	14	57747111	Missense_Mutation	SNP	T	TCGA-UZ-A9PX-01A-11D-A42J-10		57747111	49602429	71	48473											
TSHR	7253	hgsc.bcm.edu	37	14	81610606	81610606	+	Frame_Shift_Del	DEL	T	T	-			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr14:81610606delT	ENST00000541158.2	+	11	2526	c.2204delT	c.(2203-2205)atgfs	p.M735fs	TSHR_ENST00000298171.2_Frame_Shift_Del_p.M735fs|RP11-114N19.3_ENST00000557775.1_RNA			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	735					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)	CTCCACAACATGGAAGATGTC	0.463			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																															yes	Dom	yes		14	14q31	7253	thyroid stimulating hormone receptor	yes	E	0													116	107	110					14																	81610606		2203	4300	6503	SO:0001589	frameshift_variant	7253			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.2204delT	chr14.hg19:g.81610606delT	ENSP00000441235:p.Met735fs		A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Frame_Shift_Del	DEL	ENST00000541158.2	hg19	CCDS9872.1																																																																																				0.463	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413364.1	NM_000369		-	81610606	T	-	81610606	7	5	809	1	0	1	0	1	0	0	0	0	16627	1464	51	0	2379	0	TSHR	14	81610606	Frame_Shift_Del	DEL	T	TCGA-UZ-A9PX-01A-11D-A42J-10	23863495	81610606	25738934	72	48474											
ADSSL1	122622	hgsc.bcm.edu	37	14	105208271	105208271	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr14:105208271G>A	ENST00000330877.2	+	9	965	c.880G>A	c.(880-882)Gtg>Atg	p.V294M	ADSSL1_ENST00000332972.5_Missense_Mutation_p.V337M	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)		CATAGGTGACGTGTATGGCGT	0.632																																																0													164	143	150					14																	105208271		2203	4300	6503	SO:0001583	missense	122622			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.880G>A	chr14.hg19:g.105208271G>A	ENSP00000331260:p.Val294Met			Missense_Mutation	SNP	ENST00000330877.2	hg19	CCDS9990.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.377953	0.82682	.	.	ENSG00000185100	ENST00000330877;ENST00000332972	T;T	0.55052	0.54;0.54	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.80649	0.4663	M	0.93678	3.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.85997	0.1492	10	0.87932	D	0	-2.253	18.9013	0.92443	0.0:0.0:1.0:0.0	.	337;294	Q8N142-2;Q8N142	.;PURA1_HUMAN	M	294;337	ENSP00000331260:V294M;ENSP00000333019:V337M	ENSP00000331260:V294M	V	+	1	0	ADSSL1	104279316	1.000000	0.71417	0.417000	0.26559	0.561000	0.35649	9.655000	0.98512	2.534000	0.85438	0.655000	0.94253	GTG		0.632	ADSSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410529.1			A	105208271	G	A	105208271	3	1	809	1	0	0	0	0	1	0	0	0	348	1145	40	1	1239	1	ADSSL1	14	105208271	Missense_Mutation	SNP	G	TCGA-UZ-A9PX-01A-11D-A42J-10	23597665	105208271	2141269	73	48475											
SNURF	8926	hgsc.bcm.edu	37	15	25207312	25207312	+	Silent	SNP	A	A	G			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr15:25207312A>G	ENST00000577949.1	+	2	129	c.66A>G	c.(64-66)gaA>gaG	p.E22E	SNRPN_ENST00000577565.1_5'UTR|SNRPN_ENST00000400098.1_5'UTR|SNRPN_ENST00000553597.1_3'UTR|SNRPN_ENST00000400097.1_5'UTR|SNURF_ENST00000338094.6_Silent_p.E22E|SNURF_ENST00000338327.4_Silent_p.E22E|SNURF_ENST00000551312.2_Silent_p.E22E|SNRPN_ENST00000346403.6_5'UTR|SNRPN_ENST00000390687.4_5'UTR|SNRPN_ENST00000554227.2_5'UTR|SNRPN_ENST00000400100.1_5'UTR			Q9Y675	SNURF_HUMAN	SNRPN upstream reading frame	22						nucleus (GO:0005634)				breast(2)|large_intestine(2)|lung(1)	5		all_cancers(20;1.4e-21)|Breast(32;0.000625)		all cancers(64;3.48e-07)|Epithelial(43;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0142)		CAGAGGTGGAAGTCCAAGTCA	0.458																																																0													154	121	132					15																	25207312		2203	4300	6503	SO:0001819	synonymous_variant	8926				CCDS10016.1	15q11.2	2013-08-27			ENSG00000214265	ENSG00000214265			11171	protein-coding gene	gene with protein product						10318933	Standard	NM_022804		Approved		uc001ywu.3	Q9Y675	OTTHUMG00000129181	ENST00000577949.1:c.66A>G	chr15.hg19:g.25207312A>G			A6NCW2	Silent	SNP	ENST00000577949.1	hg19	CCDS10016.1																																																																																				0.458	SNURF-005	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446300.1	NM_005678		G	25207312	A	G	25207312	2	3	809	1	0	0	0	0	0	0	0	1	14884	69	3	3		3	SNURF	15	25207312	Silent	SNP	A	TCGA-UZ-A9PX-01A-11D-A42J-10		25207312	77324080	74	48476											
HERC2	8924	hgsc.bcm.edu	37	15	28369256	28369256	+	Missense_Mutation	SNP	G	G	A	rs371676185		TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr15:28369256G>A	ENST00000261609.7	-	85	13223	c.13115C>T	c.(13114-13116)tCg>tTg	p.S4372L		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)		TTCGTCGAGCGAGCCTTCCAG	0.562																																																0								G	LEU/SER	0,4406		0,0,2203	105	95	98		13115	2.5	0.6	15		98	1,8599	1.2+/-3.3	0,1,4299	no	missense	HERC2	NM_004667.4	145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	4372/4835	28369256	1,13005	2203	4300	6503	SO:0001583	missense	8924			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.13115C>T	chr15.hg19:g.28369256G>A	ENSP00000261609:p.Ser4372Leu			Missense_Mutation	SNP	ENST00000261609.7	hg19	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	9.737	1.163853	0.21538	0.0	1.16E-4	ENSG00000128731	ENST00000261609	T	0.38401	1.14	5.55	2.51	0.30379	.	0.314292	0.32687	N	0.005768	T	0.25531	0.0621	L	0.38175	1.15	0.28428	N	0.917401	B	0.25105	0.118	B	0.14578	0.011	T	0.11916	-1.0568	10	0.27785	T	0.31	.	11.1638	0.48531	0.0:0.637:0.2573:0.1058	.	4372	O95714	HERC2_HUMAN	L	4372	ENSP00000261609:S4372L	ENSP00000261609:S4372L	S	-	2	0	HERC2	26042851	1.000000	0.71417	0.580000	0.28601	0.161000	0.22273	3.800000	0.55537	0.253000	0.21552	-0.150000	0.13652	TCG		0.562	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		A	28369256	G	A	28369256	3	1	809	1	0	0	0	0	1	0	0	0	7060	1059	37	1	1425	1	HERC2	15	28369256	Missense_Mutation	SNP	G	TCGA-UZ-A9PX-01A-11D-A42J-10	3161944	28369256	74162136	75	48477											
RYR3	6263	hgsc.bcm.edu	37	15	34127190	34127190	+	Missense_Mutation	SNP	C	C	A			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr15:34127190C>A	ENST00000389232.4	+	87	11555	c.11485C>A	c.(11485-11487)Cag>Aag	p.Q3829K	RYR3_ENST00000415757.3_Missense_Mutation_p.Q3824K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3829					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)		TGGTAATCAACAGAGCCTGGC	0.488																																																0													101	98	99					15																	34127190		1992	4183	6175	SO:0001583	missense	6263				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.11485C>A	chr15.hg19:g.34127190C>A	ENSP00000373884:p.Gln3829Lys		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	hg19	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.485309	0.84854	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D	0.94931	-3.56	4.66	4.66	0.58398	RyR/IP3R Homology associated domain (1);	0.000000	0.85682	D	0.000000	D	0.95931	0.8675	L	0.58969	1.84	0.58432	D	0.999998	P;D	0.55172	0.955;0.97	P;P	0.60068	0.725;0.868	D	0.95788	0.8822	10	0.49607	T	0.09	.	17.7356	0.88391	0.0:1.0:0.0:0.0	.	3824;3829	Q15413-2;Q15413	.;RYR3_HUMAN	K	3829;3828;3825	ENSP00000373884:Q3829K	ENSP00000354735:Q3825K	Q	+	1	0	RYR3	31914482	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	7.470000	0.80973	2.423000	0.82170	0.650000	0.86243	CAG		0.488	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			A	34127190	C	A	34127190	3	1	809	1	0	0	0	0	1	0	0	0	13776	479	17	4	11831	4	RYR3	15	34127190	Missense_Mutation	SNP	C	TCGA-UZ-A9PX-01A-11D-A42J-10	5757934	34127190	68404202	76	48478											
GNB5	10681	hgsc.bcm.edu	37	15	52425644	52425644	+	Missense_Mutation	SNP	A	A	G			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr15:52425644A>G	ENST00000261837.7	-	9	859	c.794T>C	c.(793-795)gTg>gCg	p.V265A	GNB5_ENST00000396335.4_Missense_Mutation_p.V153A|CTD-2184D3.7_ENST00000557898.1_RNA|GNB5_ENST00000358784.7_Missense_Mutation_p.V223A|GNB5_ENST00000559348.1_5'UTR	NM_016194.3	NP_057278.2	O14775	GBB5_HUMAN	guanine nucleotide binding protein (G protein), beta 5	265					GTP catabolic process (GO:0006184)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	chaperone binding (GO:0051087)|G-protein gamma-subunit binding (GO:0031682)|GTPase activity (GO:0003924)|signal transducer activity (GO:0004871)			large_intestine(1)|lung(1)	2				all cancers(107;0.0163)		CATGTCCCACACCATGGCTTT	0.473																																																0													151	122	132					15																	52425644		2195	4293	6488	SO:0001583	missense	10681			AF017656	CCDS10149.1, CCDS45261.1	15q21.1	2013-01-10			ENSG00000069966	ENSG00000069966		"WD repeat domain containing"	4401	protein-coding gene	gene with protein product		604447				9606987	Standard	NM_016194		Approved	GB5	uc031qrz.1	O14775	OTTHUMG00000131892	ENST00000261837.7:c.794T>C	chr15.hg19:g.52425644A>G	ENSP00000261837:p.Val265Ala		B2RBR5|Q9HAU9|Q9UFT3	Missense_Mutation	SNP	ENST00000261837.7	hg19	CCDS10149.1	.	.	.	.	.	.	.	.	.	.	A	28.8	4.952064	0.92660	.	.	ENSG00000069966	ENST00000261837;ENST00000396335;ENST00000544480;ENST00000358784	T	0.66280	-0.2	5.78	5.78	0.91487	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	0.80444	0.4624	M	0.79693	2.465	0.80722	D	1	D;D	0.62365	0.991;0.986	D;P	0.80764	0.994;0.839	T	0.83227	-0.0065	10	0.87932	D	0	-28.0646	16.1146	0.81295	1.0:0.0:0.0:0.0	.	265;153	O14775;O14775-3	GBB5_HUMAN;.	A	265;223;63;153	ENSP00000261837:V265A	ENSP00000261837:V265A	V	-	2	0	GNB5	50212936	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.720000	0.91442	2.200000	0.70718	0.460000	0.39030	GTG		0.473	GNB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254842.1			G	52425644	A	G	52425644	3	3	809	1	0	0	0	0	1	0	0	0	6523	159	6	3	413	3	GNB5	15	52425644	Missense_Mutation	SNP	A	TCGA-UZ-A9PX-01A-11D-A42J-10	18298454	52425644	50105748	77	48479											
RASGRF1	5923	hgsc.bcm.edu	37	15	79294058	79294058	+	Missense_Mutation	SNP	A	A	G			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr15:79294058A>G	ENST00000419573.3	-	17	2843	c.2569T>C	c.(2569-2571)Tca>Cca	p.S857P	RASGRF1_ENST00000394745.3_Missense_Mutation_p.S73P|RASGRF1_ENST00000558480.2_Missense_Mutation_p.S841P|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	857					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						TTAGTTGGTGATGTTTCAGTA	0.363																																																0													237	215	222					15																	79294058		2196	4293	6489	SO:0001583	missense	5923			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.2569T>C	chr15.hg19:g.79294058A>G	ENSP00000405963:p.Ser857Pro		F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	ENST00000419573.3	hg19	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	A	19.13	3.767238	0.69878	.	.	ENSG00000058335	ENST00000419573;ENST00000394741;ENST00000394745	T;T	0.67698	-0.28;-0.28	4.97	4.97	0.65823	Ras guanine nucleotide exchange factor, domain (1);	0.227415	0.38272	N	0.001742	T	0.80025	0.4548	M	0.77820	2.39	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;0.967;0.973;0.987;0.987	D;D;P;P;P	0.74348	0.983;0.91;0.694;0.83;0.833	T	0.82112	-0.0618	10	0.66056	D	0.02	.	11.0365	0.47804	1.0:0.0:0.0:0.0	.	253;857;841;859;841	B7Z6Z6;A8K270;Q8IUU5;Q13972;F8VPA5	.;.;.;RGRF1_HUMAN;.	P	857;841;73	ENSP00000405963:S857P;ENSP00000378228:S73P	ENSP00000378224:S841P	S	-	1	0	RASGRF1	77081113	1.000000	0.71417	0.036000	0.18154	0.910000	0.53928	6.239000	0.72356	1.871000	0.54225	0.402000	0.26972	TCA		0.363	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		G	79294058	A	G	79294058	3	3	809	1	0	0	0	0	1	0	0	0	13078	333	12	3	1300	3	RASGRF1	15	79294058	Missense_Mutation	SNP	A	TCGA-UZ-A9PX-01A-11D-A42J-10	26868414	79294058	23237334	78	48480											
WDR93	56964	hgsc.bcm.edu	37	15	90260171	90260171	+	Silent	SNP	T	T	C			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr15:90260171T>C	ENST00000268130.7	+	7	887	c.786T>C	c.(784-786)ccT>ccC	p.P262P	RNU6-132P_ENST00000383863.1_RNA|WDR93_ENST00000560294.1_Silent_p.P262P	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	262					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)			CTGCAGATCCTTTAGAAATGG	0.294																																																0													81	86	84					15																	90260171		2200	4299	6499	SO:0001819	synonymous_variant	56964				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.786T>C	chr15.hg19:g.90260171T>C			Q8N7Y8|Q9NP89	Silent	SNP	ENST00000268130.7	hg19	CCDS32326.1																																																																																				0.294	WDR93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416369.1	NM_020212		C	90260171	T	C	90260171	2	2	809	1	0	0	0	0	0	0	0	1	17345	1596	56	3		3	WDR93	15	90260171	Silent	SNP	T	TCGA-UZ-A9PX-01A-11D-A42J-10	10966113	90260171	12271221	79	48481											
TTLL13	440307	hgsc.bcm.edu	37	15	90796537	90796540	+	Frame_Shift_Del	DEL	ACTC	ACTC	-			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	ACTC	ACTC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr15:90796537_90796540delACTC	ENST00000561573.1	+	4	619_622	c.355_358delACTC	c.(355-360)actctgfs	p.TL119fs	TTLL13_ENST00000438251.1_Frame_Shift_Del_p.TL119fs|TTLL13_ENST00000339615.5_Frame_Shift_Del_p.TL119fs																							TGAAGAGTGGACTCTGTACTGGAC	0.583																																																0																																										SO:0001589	frameshift_variant	440307																														ENST00000561573.1:c.355_358delACTC	chr15.hg19:g.90796537_90796540delACTC	ENSP00000456615:p.Thr119fs			Frame_Shift_Del	DEL	ENST00000561573.1	hg19																																																																																					0.583	RP11-697E2.6-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000435855.1			-	90796540	ACTC	-	90796537	7	5	809	1	0	1	0	1	0	0	0	0	16731	275	10	0	365	0	TTLL13	15	90796537	Frame_Shift_Del	DEL	ACTC	TCGA-UZ-A9PX-01A-11D-A42J-10	536366	90796537	11734855	80	48482											
CLN3	1201	hgsc.bcm.edu	37	16	28497728	28497728	+	Missense_Mutation	SNP	C	C	A			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr16:28497728C>A	ENST00000569430.1	-	10	1436	c.617G>T	c.(616-618)gGc>gTc	p.G206V	CLN3_ENST00000535392.1_Missense_Mutation_p.G128V|CLN3_ENST00000568224.1_Missense_Mutation_p.G128V|CLN3_ENST00000359984.7_Missense_Mutation_p.G206V|CLN3_ENST00000357076.5_Intron|CLN3_ENST00000360019.2_Missense_Mutation_p.G206V|CLN3_ENST00000355477.5_Intron|CLN3_ENST00000395653.4_Missense_Mutation_p.G106V|CLN3_ENST00000357806.7_Intron|CLN3_ENST00000565316.1_Missense_Mutation_p.G206V|CLN3_ENST00000357857.9_Missense_Mutation_p.G152V|CLN3_ENST00000354630.5_Missense_Mutation_p.G206V|CLN3_ENST00000333496.9_Missense_Mutation_p.G182V|CLN3_ENST00000567963.1_Missense_Mutation_p.G206V			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	206					action potential (GO:0001508)|amyloid precursor protein catabolic process (GO:0042987)|arginine transport (GO:0015809)|associative learning (GO:0008306)|autophagic vacuole fusion (GO:0000046)|cell death (GO:0008219)|cellular amino acid metabolic process (GO:0006520)|ceramide metabolic process (GO:0006672)|cytosolic calcium ion homeostasis (GO:0051480)|galactosylceramide metabolic process (GO:0006681)|globoside metabolic process (GO:0001575)|glucosylceramide metabolic process (GO:0006678)|ionotropic glutamate receptor signaling pathway (GO:0035235)|lysosomal lumen acidification (GO:0007042)|lysosomal lumen pH elevation (GO:0035752)|lysosome organization (GO:0007040)|macroautophagy (GO:0016236)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of macroautophagy (GO:0016242)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteolysis (GO:0045861)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter metabolic process (GO:0042133)|protein catabolic process (GO:0030163)|protein processing (GO:0016485)|receptor-mediated endocytosis (GO:0006898)|sphingomyelin metabolic process (GO:0006684)|vacuolar transport (GO:0007034)|vesicle transport along microtubule (GO:0047496)	autophagic vacuole (GO:0005776)|caveola (GO:0005901)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	unfolded protein binding (GO:0051082)			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						AGGGGAGAGGCCGGCCTGGGT	0.687																																																0													25	28	27					16																	28497728		2195	4300	6495	SO:0001583	missense	1201			U32680	CCDS10632.1, CCDS73852.1, CCDS73853.1, CCDS73854.1, CCDS73855.1	16p12	2014-09-17	2008-07-29		ENSG00000188603	ENSG00000188603			2074	protein-coding gene	gene with protein product	"juvenile neuronal ceroid lipofuscinosis"	607042	"Batten, Spielmeyer-Vogt disease"	BTS		18317235	Standard	NM_001042432		Approved	JNCL	uc002dpp.3	Q13286	OTTHUMG00000097024	ENST00000569430.1:c.617G>T	chr16.hg19:g.28497728C>A	ENSP00000454229:p.Gly206Val		B2R7J1|O00668|O95089|Q549S9|Q9UP09|Q9UP11|Q9UP12|Q9UP13|Q9UP14	Missense_Mutation	SNP	ENST00000569430.1	hg19	CCDS10632.1	.	.	.	.	.	.	.	.	.	.	C	18.75	3.691246	0.68271	.	.	ENSG00000188603	ENST00000535392;ENST00000359984;ENST00000360019;ENST00000354630;ENST00000357857;ENST00000395653	T;T;T;T;T;T	0.61158	0.13;0.13;0.13;0.13;0.13;0.13	5.6	5.6	0.85130	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.81922	0.4925	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;1.0;1.0;1.0;1.0;0.992	D	0.85590	0.1245	10	0.62326	D	0.03	-20.6091	17.1168	0.86691	0.0:1.0:0.0:0.0	.	106;182;206;206;257;106;206	B4DFT5;B4DXL3;Q13286-3;Q13286-4;B4DIA8;B4DMY6;Q13286	.;.;.;.;.;.;CLN3_HUMAN	V	128;206;206;206;152;106	ENSP00000443221:G128V;ENSP00000353073:G206V;ENSP00000353116:G206V;ENSP00000346650:G206V;ENSP00000350523:G152V;ENSP00000379014:G106V	ENSP00000346650:G206V	G	-	2	0	CLN3	28405229	1.000000	0.71417	1.000000	0.80357	0.240000	0.25518	6.412000	0.73303	2.654000	0.90174	0.651000	0.88453	GGC		0.687	CLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214115.2			A	28497728	C	A	28497728	3	1	809	1	0	0	0	0	1	0	0	0	3545	739	26	4	731	4	CLN3	16	28497728	Missense_Mutation	SNP	C	TCGA-UZ-A9PX-01A-11D-A42J-10		28497728	61857025	81	48483											
TERF2IP	54386	hgsc.bcm.edu	37	16	75690303	75690303	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr16:75690303G>A	ENST00000300086.4	+	3	1091	c.994G>A	c.(994-996)Gtt>Att	p.V332I		NM_018975.3	NP_061848.2	Q9NYB0	TE2IP_HUMAN	telomeric repeat binding factor 2, interacting protein	332					negative regulation of DNA recombination at telomere (GO:0048239)|negative regulation of telomere maintenance (GO:0032205)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of transcription, DNA-templated (GO:0006355)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere lengthening (GO:0010833)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear chromosome (GO:0000228)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						TCTATCAACAGTTACACAGGC	0.453																																																0													159	161	160					16																	75690303		2198	4300	6498	SO:0001583	missense	54386			AK000669	CCDS32491.1	16q23.1	2012-10-03			ENSG00000166848	ENSG00000166848			19246	protein-coding gene	gene with protein product		605061				10850490	Standard	NM_018975		Approved	RAP1	uc002fet.2	Q9NYB0	OTTHUMG00000177136	ENST00000300086.4:c.994G>A	chr16.hg19:g.75690303G>A	ENSP00000300086:p.Val332Ile		B4DQN4|Q4W4Y2|Q8WYZ3|Q9NWR2	Missense_Mutation	SNP	ENST00000300086.4	hg19	CCDS32491.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.392384	0.83011	.	.	ENSG00000166848	ENST00000300086	T	0.45276	0.9	5.75	4.79	0.61399	.	0.055638	0.64402	N	0.000001	T	0.34454	0.0898	L	0.34521	1.04	0.44890	D	0.997905	B	0.21225	0.053	B	0.19666	0.026	T	0.16778	-1.0391	10	0.87932	D	0	-10.2609	13.2667	0.60137	0.0769:0.0:0.9231:0.0	.	332	Q9NYB0	TE2IP_HUMAN	I	332	ENSP00000300086:V332I	ENSP00000300086:V332I	V	+	1	0	TERF2IP	74247804	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.919000	0.56439	1.426000	0.47256	0.591000	0.81541	GTT		0.453	TERF2IP-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000435519.1	NM_018975		A	75690303	G	A	75690303	3	1	809	1	0	0	0	0	1	0	0	0	15768	1029	36	2	1004	2	TERF2IP	16	75690303	Missense_Mutation	SNP	G	TCGA-UZ-A9PX-01A-11D-A42J-10	47192575	75690303	14664450	82	48484											
STAT5A	6776	hgsc.bcm.edu	37	17	40461463	40461482	+	Frame_Shift_Del	DEL	CTGTGTGCCCCCAGGCTCCC	CTGTGTGCCCCCAGGCTCCC	-	rs552732197		TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	CTGTGTGCCCCCAGGCTCCC	CTGTGTGCCCCCAGGCTCCC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr17:40461463_40461482delCTGTGTGCCCCCAGGCTCCC	ENST00000345506.4	+	19	2825_2844	c.2183_2202delCTGTGTGCCCCCAGGCTCCC	c.(2182-2202)gctgtgtgcccccaggctcccfs	p.AVCPQAP728fs	STAT5A_ENST00000588868.1_Frame_Shift_Del_p.AVCPQAP697fs|STAT5A_ENST00000546010.2_Frame_Shift_Del_p.AVCPQAP698fs|STAT5A_ENST00000587646.1_Frame_Shift_Del_p.AVCPQAP216fs|STAT5A_ENST00000590949.1_Frame_Shift_Del_p.AVCPQAP728fs|STAT5A_ENST00000452307.2_Frame_Shift_Del_p.AVCPQAP725fs	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN	signal transducer and activator of transcription 5A	728					2-oxoglutarate metabolic process (GO:0006103)|allantoin metabolic process (GO:0000255)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|luteinization (GO:0001553)|mammary gland epithelium development (GO:0061180)|natural killer cell differentiation (GO:0001779)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of mast cell apoptotic process (GO:0033026)|oxaloacetate metabolic process (GO:0006107)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mast cell differentiation (GO:0060376)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin signaling pathway (GO:0038161)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription, DNA-templated (GO:0006351)|valine metabolic process (GO:0006573)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	calcium ion binding (GO:0005509)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		CCCTCCCCAGCTGTGTGCCCCCAGGCTCCCTATAACATGT	0.618																																																0																																										SO:0001589	frameshift_variant	6776			U43185	CCDS11424.1, CCDS74066.1, CCDS74067.1	17q11.2	2013-02-14			ENSG00000126561	ENSG00000126561		"SH2 domain containing"	11366	protein-coding gene	gene with protein product		601511		STAT5		7719937, 8631883	Standard	NM_003152		Approved	MGF	uc002hzj.2	P42229	OTTHUMG00000150725	ENST00000345506.4:c.2183_2202delCTGTGTGCCCCCAGGCTCCC	chr17.hg19:g.40461463_40461482delCTGTGTGCCCCCAGGCTCCC	ENSP00000341208:p.Ala728fs		Q1KLZ6	Frame_Shift_Del	DEL	ENST00000345506.4	hg19	CCDS11424.1																																																																																				0.618	STAT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319804.1	NM_003152		-	40461482	CTGTGTGCCCCCAGGCTCCC	-	40461463	7	5	809	1	0	1	0	1	0	0	0	0	15273	797	28	0	2249	0	STAT5A	17	40461463	Frame_Shift_Del	DEL	CTGTGTGCCCCCAGGCTCCC	TCGA-UZ-A9PX-01A-11D-A42J-10		40461463	40733747	83	48485											
UTP18	51096	hgsc.bcm.edu	37	17	49357809	49357809	+	Silent	SNP	T	T	C			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr17:49357809T>C	ENST00000225298.7	+	9	1230	c.1173T>C	c.(1171-1173)tcT>tcC	p.S391S		NM_016001.2	NP_057085.2	Q9Y5J1	UTP18_HUMAN	UTP18 small subunit (SSU) processome component homolog (yeast)	391					rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			CCACATTCTCTTCAGATAGTA	0.353																																																0													72	66	68					17																	49357809		1846	4094	5940	SO:0001819	synonymous_variant	51096			AF151806	CCDS42362.1	17q21.33	2013-05-21	2011-12-09	2006-05-16	ENSG00000011260	ENSG00000011260		"WD repeat domain containing"	24274	protein-coding gene	gene with protein product		612816	"WD repeat domain 50"	WDR50		10810093, 8619474, 15590835	Standard	NM_016001		Approved	CGI-48	uc002its.3	Q9Y5J1	OTTHUMG00000162370	ENST00000225298.7:c.1173T>C	chr17.hg19:g.49357809T>C			Q9H4N6	Silent	SNP	ENST00000225298.7	hg19	CCDS42362.1																																																																																				0.353	UTP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368654.1	NM_016001		C	49357809	T	C	49357809	2	2	809	1	0	0	0	0	0	0	0	1	17103	1596	56	3		3	UTP18	17	49357809	Silent	SNP	T	TCGA-UZ-A9PX-01A-11D-A42J-10	8896346	49357809	31837401	84	48486											
DDX5	1655	hgsc.bcm.edu	37	17	62496750	62496750	+	Missense_Mutation	SNP	A	A	T			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr17:62496750A>T	ENST00000225792.5	-	12	1759	c.1358T>A	c.(1357-1359)gTg>gAg	p.V453E	DDX5_ENST00000580026.1_5'UTR|DDX5_ENST00000578804.1_Missense_Mutation_p.V453E|DDX5_ENST00000450599.2_Missense_Mutation_p.V374E|MIR5047_ENST00000579212.1_RNA|MIR3064_ENST00000581130.1_RNA	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	453	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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)	p.V453A(2)		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)			AAGGTCGCTCACTTGCTTTAT	0.418			T	ETV4	prostate																																NSCLC(22;406 813 4871 19580 40307)		Dom	yes		17	17q21	1655	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5		E	2	Substitution - Missense(2)	large_intestine(2)											159	141	147					17																	62496750		2203	4300	6503	SO:0001583	missense	1655			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.1358T>A	chr17.hg19:g.62496750A>T	ENSP00000225792:p.Val453Glu		B4DLW8|B5BU21|D3DU32|E7ETL9|O75681|Q53Y61	Missense_Mutation	SNP	ENST00000225792.5	hg19	CCDS11659.1	.	.	.	.	.	.	.	.	.	.	A	8.939	0.965316	0.18583	.	.	ENSG00000108654	ENST00000540698;ENST00000450599;ENST00000225792	.	.	.	5.73	5.73	0.89815	Helicase, C-terminal (1);	0.103387	0.64402	D	0.000003	T	0.53384	0.1793	L	0.51914	1.62	0.80722	D	1	P;P;P	0.39576	0.471;0.679;0.679	B;B;B	0.35859	0.191;0.212;0.212	T	0.60229	-0.7304	9	0.87932	D	0	-5.3751	16.3123	0.82883	1.0:0.0:0.0:0.0	.	374;453;453	B4DLW8;B5BUE6;P17844	.;.;DDX5_HUMAN	E	453;383;442	.	ENSP00000225792:V442E	V	-	2	0	DDX5	59927212	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.406000	0.73276	2.308000	0.77769	0.533000	0.62120	GTG		0.418	DDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444030.1	NM_004396		T	62496750	A	T	62496750	3	4	809	1	0	0	0	0	1	0	0	0	4369	159	6	5	494	5	DDX5	17	62496750	Missense_Mutation	SNP	A	TCGA-UZ-A9PX-01A-11D-A42J-10	13138941	62496750	18698460	85	48487											
SLC25A19	60386	hgsc.bcm.edu	37	17	73273495	73273495	+	Missense_Mutation	SNP	T	T	G			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr17:73273495T>G	ENST00000402418.3	-	5	1622	c.713A>C	c.(712-714)gAc>gCc	p.D238A	SLC25A19_ENST00000442286.2_Missense_Mutation_p.D238A|SLC25A19_ENST00000580994.1_Missense_Mutation_p.D238A|SLC25A19_ENST00000375261.4_Missense_Mutation_p.D181A|SLC25A19_ENST00000416858.2_Missense_Mutation_p.D238A|SLC25A19_ENST00000320362.3_Missense_Mutation_p.D238A			Q9HC21	TPC_HUMAN	solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19	238					deoxynucleotide transport (GO:0030302)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	deoxynucleotide transmembrane transporter activity (GO:0030233)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08)		all cancers(21;6.82e-07)|Epithelial(20;6.86e-06)			CTTGAAGAGGTCCAGCGGATA	0.557																																																0													101	85	90					17																	73273495		2203	4300	6503	SO:0001583	missense	60386				CCDS11720.1	17q25.1	2013-05-22	2007-03-08		ENSG00000125454	ENSG00000125454		"Solute carriers"	14409	protein-coding gene	gene with protein product		606521	"solute carrier family 25 (mitochondrial deoxynucleotide carrier), member 19", "microcephaly, Amish"	MCPHA		11474176, 11226231, 19798730	Standard	NM_021734		Approved	DNC, MUP1, TPC	uc002jnw.4	Q9HC21		ENST00000402418.3:c.713A>C	chr17.hg19:g.73273495T>G	ENSP00000385312:p.Asp238Ala		E9PF74|Q6V9R7	Missense_Mutation	SNP	ENST00000402418.3	hg19	CCDS11720.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.511535	0.85389	.	.	ENSG00000125454	ENST00000416858;ENST00000442286;ENST00000320362;ENST00000402418;ENST00000375261	D;D;D;D;D	0.84370	-1.84;-1.84;-1.84;-1.84;-1.84	5.35	5.35	0.76521	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.94486	0.8225	H	0.95884	3.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94730	0.7909	10	0.31617	T	0.26	-39.7112	15.0367	0.71754	0.0:0.0:0.0:1.0	.	181;238	E9PF74;Q9HC21	.;TPC_HUMAN	A	238;238;238;238;181	ENSP00000397818:D238A;ENSP00000402202:D238A;ENSP00000319574:D238A;ENSP00000385312:D238A;ENSP00000364410:D181A	ENSP00000319574:D238A	D	-	2	0	SLC25A19	70785090	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	7.698000	0.84413	2.033000	0.60031	0.528000	0.53228	GAC		0.557	SLC25A19-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447282.1	NM_021734		G	73273495	T	G	73273495	3	3	809	1	0	0	0	0	1	0	0	0	14487	1667	58	5	257	5	SLC25A19	17	73273495	Missense_Mutation	SNP	T	TCGA-UZ-A9PX-01A-11D-A42J-10	10776745	73273495	7921715	86	48488											
ALPK2	115701	hgsc.bcm.edu	37	18	56202906	56202906	+	Missense_Mutation	SNP	G	G	C			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr18:56202906G>C	ENST00000361673.3	-	5	4726	c.4513C>G	c.(4513-4515)Cca>Gca	p.P1505A	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1505						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						CATCCACTTGGAATTCTTTCA	0.483																																																0													86	88	88					18																	56202906		2203	4300	6503	SO:0001583	missense	115701			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"Immunoglobulin superfamily / I-set domain containing"	20565	protein-coding gene	gene with protein product	"heart alpha-kinase"					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.4513C>G	chr18.hg19:g.56202906G>C	ENSP00000354991:p.Pro1505Ala		Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	hg19	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	G	16.71	3.199585	0.58126	.	.	ENSG00000198796	ENST00000361673	T	0.68624	-0.34	5.68	3.88	0.44766	.	10.063900	0.00166	N	0.000004	T	0.68495	0.3007	L	0.43152	1.355	0.23468	N	0.997617	D;P	0.54047	0.964;0.952	P;B	0.48873	0.593;0.335	T	0.54153	-0.8336	10	0.72032	D	0.01	-9.3927	7.1825	0.25780	0.0892:0.1733:0.7374:0.0	.	1500;1505	Q86TB3-2;Q86TB3	.;ALPK2_HUMAN	A	1505	ENSP00000354991:P1505A	ENSP00000354991:P1505A	P	-	1	0	ALPK2	54353886	0.353000	0.24904	0.156000	0.22583	0.066000	0.16364	1.417000	0.34770	1.385000	0.46445	0.563000	0.77884	CCA		0.483	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		C	56202906	G	C	56202906	3	2	809	1	0	0	0	0	1	0	0	0	545	1174	41	4	2035	4	ALPK2	18	56202906	Missense_Mutation	SNP	G	TCGA-UZ-A9PX-01A-11D-A42J-10		56202906	21874342	87	48489											
ADAMTS10	81794	hgsc.bcm.edu	37	19	8661948	8661948	+	Silent	SNP	G	G	A			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr19:8661948G>A	ENST00000597188.1	-	8	1233	c.963C>T	c.(961-963)atC>atT	p.I321I	ADAMTS10_ENST00000596709.1_5'Flank|ADAMTS10_ENST00000270328.4_Silent_p.I321I	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	321	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						TGTGGTTCACGATGGATTTCT	0.572																																																0													102	89	94					19																	8661948		2203	4300	6503	SO:0001819	synonymous_variant	81794			AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"ADAM metallopeptidases with thrombospondin type 1 motif"	13201	protein-coding gene	gene with protein product		608990	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.963C>T	chr19.hg19:g.8661948G>A			M0QZE4	Silent	SNP	ENST00000597188.1	hg19	CCDS12206.1																																																																																				0.572	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3	NM_030957		A	8661948	G	A	8661948	2	1	809	1	0	0	0	0	0	0	0	1	256	1048	37	1		1	ADAMTS10	19	8661948	Silent	SNP	G	TCGA-UZ-A9PX-01A-11D-A42J-10		8661948	50467035	88	48490											
KLF1	10661	hgsc.bcm.edu	37	19	12996546	12996546	+	Silent	SNP	C	C	A			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr19:12996546C>A	ENST00000264834.4	-	2	538	c.498G>T	c.(496-498)ctG>ctT	p.L166L	CTD-2265O21.7_ENST00000592400.1_RNA	NM_006563.3	NP_006554.1	Q13351	KLF1_HUMAN	Kruppel-like factor 1 (erythroid)	166	Pro-rich.				cellular response to peptide (GO:1901653)|chromatin remodeling (GO:0006338)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(3)|large_intestine(1)|skin(1)	5		Hepatocellular(1079;0.137)		GBM - Glioblastoma multiforme(1328;0.00016)|Lung(535;0.171)|STAD - Stomach adenocarcinoma(1328;0.18)		ACACCGGTTGCAGCGCCAGCG	0.781																																																0													1	1	1					19																	12996546		684	1693	2377	SO:0001819	synonymous_variant	10661			U37106	CCDS12285.1	19p13.2	2014-07-18			ENSG00000105610	ENSG00000105610		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	6345	protein-coding gene	gene with protein product	"erythroid Kruppel-like factor"	600599				8924208, 9119377	Standard	NM_006563		Approved	EKLF	uc002mvo.3	Q13351	OTTHUMG00000180536	ENST00000264834.4:c.498G>T	chr19.hg19:g.12996546C>A			Q6PIJ5|Q92899	Silent	SNP	ENST00000264834.4	hg19	CCDS12285.1																																																																																				0.781	KLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451794.1	NM_006563		A	12996546	C	A	12996546	2	1	809	1	0	0	0	0	0	0	0	1	8339	697	25	4		4	KLF1	19	12996546	Silent	SNP	C	TCGA-UZ-A9PX-01A-11D-A42J-10	4334598	12996546	46132437	89	48491											
CYP4F2	8529	hgsc.bcm.edu	37	19	16006325	16006325	+	Missense_Mutation	SNP	T	T	A			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr19:16006325T>A	ENST00000221700.6	-	3	429	c.334A>T	c.(334-336)Aac>Tac	p.N112Y	CYP4F2_ENST00000011989.7_Intron	NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2											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						CCTGAGGCGTTGATGACAGAC	0.607																																																0													124	134	131					19																	16006325		2203	4300	6503	SO:0001583	missense	8529			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.334A>T	chr19.hg19:g.16006325T>A	ENSP00000221700:p.Asn112Tyr			Missense_Mutation	SNP	ENST00000221700.6	hg19	CCDS12336.1	.	.	.	.	.	.	.	.	.	.	t	10.88	1.475353	0.26511	.	.	ENSG00000186115	ENST00000221700	D	0.95171	-3.63	3.13	2.1	0.27182	.	0.598081	0.13811	U	0.361135	D	0.90642	0.7065	M	0.62209	1.925	0.09310	N	1	B	0.02656	0.0	B	0.12837	0.008	T	0.80211	-0.1476	10	0.32370	T	0.25	.	3.9592	0.09403	0.0:0.2815:0.0:0.7185	.	112	P78329	CP4F2_HUMAN	Y	112	ENSP00000221700:N112Y	ENSP00000221700:N112Y	N	-	1	0	CYP4F2	15867325	0.008000	0.16893	0.003000	0.11579	0.625000	0.37756	1.889000	0.39718	1.414000	0.47017	0.254000	0.18369	AAC		0.607	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	NM_001082		A	16006325	T	A	16006325	3	1	809	1	0	0	0	0	1	0	0	0	4190	1812	63	5	1272	5	CYP4F2	19	16006325	Missense_Mutation	SNP	T	TCGA-UZ-A9PX-01A-11D-A42J-10	3009779	16006325	43122658	90	48492											
UNC13A	23025	hgsc.bcm.edu	37	19	17722656	17722656	+	Missense_Mutation	SNP	C	C	T			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr19:17722656C>T	ENST00000519716.2	-	42	4566	c.4567G>A	c.(4567-4569)Gta>Ata	p.V1523I	UNC13A_ENST00000252773.7_Missense_Mutation_p.V1523I|UNC13A_ENST00000552293.1_Missense_Mutation_p.V1517I|UNC13A_ENST00000428389.2_Missense_Mutation_p.V1611I|UNC13A_ENST00000551649.1_Missense_Mutation_p.V1542I|UNC13A_ENST00000550896.1_Missense_Mutation_p.V1496I|CTD-3149D2.3_ENST00000600512.1_RNA	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1523					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						GGGTCTTCTACACCCAAGCCT	0.587																																																0													102	101	102					19																	17722656		2111	4245	6356	SO:0001583	missense	23025			AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.4567G>A	chr19.hg19:g.17722656C>T	ENSP00000429562:p.Val1523Ile		E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	hg19	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	C	17.36	3.371221	0.61624	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.80824	-1.41;-1.42;-1.41;-1.29;-1.27;-1.38	4.75	4.75	0.60458	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	U	0.000002	T	0.72614	0.3482	L	0.32530	0.975	0.43761	D	0.996277	B	0.15719	0.014	B	0.20384	0.029	T	0.67952	-0.5537	10	0.32370	T	0.25	-16.2067	15.3216	0.74126	0.0:1.0:0.0:0.0	.	1523	Q9UPW8	UN13A_HUMAN	I	1523;1611;1523;1542;1517;1496	ENSP00000429562:V1523I;ENSP00000400409:V1611I;ENSP00000252773:V1523I;ENSP00000447236:V1542I;ENSP00000447572:V1517I;ENSP00000446831:V1496I	ENSP00000252773:V1523I	V	-	1	0	UNC13A	17583656	0.982000	0.34865	0.962000	0.40283	0.916000	0.54674	3.975000	0.56859	2.209000	0.71365	0.549000	0.68633	GTA		0.587	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		T	17722656	C	T	17722656	3	4	809	1	0	0	0	0	1	0	0	0	16989	478	17	2	556	2	UNC13A	19	17722656	Missense_Mutation	SNP	C	TCGA-UZ-A9PX-01A-11D-A42J-10	1716331	17722656	41406327	91	48493											
SLC25A42	284439	hgsc.bcm.edu	37	19	19217183	19217183	+	Silent	SNP	C	C	A			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr19:19217183C>A	ENST00000318596.7	+	6	637	c.486C>A	c.(484-486)acC>acA	p.T162T	SLC25A42_ENST00000600275.1_3'UTR	NM_178526.4	NP_848621.2	Q86VD7	S2542_HUMAN	solute carrier family 25, member 42	162					ADP transport (GO:0015866)|AMP transport (GO:0080121)|ATP transport (GO:0015867)|coenzyme A transmembrane transport (GO:0035349)|metabolic process (GO:0008152)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	adenosine-diphosphatase activity (GO:0043262)|ADP transmembrane transporter activity (GO:0015217)|AMP transmembrane transporter activity (GO:0080122)|ATP transmembrane transporter activity (GO:0005347)|coenzyme A transmembrane transporter activity (GO:0015228)			cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			TGGCCGTAACCCCGAAGGAAA	0.657																																																0													67	64	65					19																	19217183		2203	4300	6503	SO:0001819	synonymous_variant	284439				CCDS32966.1	19p13.11	2013-05-22			ENSG00000181035	ENSG00000181035		"Solute carriers"	28380	protein-coding gene	gene with protein product		610823				16949250, 19429682	Standard	NM_178526		Approved	MGC26694	uc002nlf.3	Q86VD7		ENST00000318596.7:c.486C>A	chr19.hg19:g.19217183C>A			D2T2J5|O14553|O43378	Silent	SNP	ENST00000318596.7	hg19	CCDS32966.1																																																																																				0.657	SLC25A42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465931.1	NM_178526		A	19217183	C	A	19217183	2	1	809	1	0	0	0	0	0	0	0	1	14513	610	22	4		4	SLC25A42	19	19217183	Silent	SNP	C	TCGA-UZ-A9PX-01A-11D-A42J-10	1494527	19217183	39911800	92	48494											
MAG	4099	hgsc.bcm.edu	37	19	35800864	35800864	+	Missense_Mutation	SNP	C	C	T			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr19:35800864C>T	ENST00000392213.3	+	8	1478	c.1319C>T	c.(1318-1320)cCg>cTg	p.P440L	MAG_ENST00000361922.4_Missense_Mutation_p.P440L|MAG_ENST00000593348.1_3'UTR|MAG_ENST00000537831.2_Missense_Mutation_p.P415L	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	440	Ig-like C2-type 4.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			AACCCGGAGCCGTCCGTGGCC	0.662																																																0													78	73	75					19																	35800864		2203	4300	6503	SO:0001583	missense	4099			M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6783	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 4A"	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.1319C>T	chr19.hg19:g.35800864C>T	ENSP00000376048:p.Pro440Leu		B7Z2E5|F5GYC0|Q567S4	Missense_Mutation	SNP	ENST00000392213.3	hg19	CCDS12455.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.342867	0.61073	.	.	ENSG00000105695	ENST00000262624;ENST00000361922;ENST00000392213;ENST00000537831	T;T;T	0.18338	2.22;2.22;2.22	4.8	3.74	0.42951	.	0.056265	0.64402	D	0.000001	T	0.24122	0.0584	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	0.981;1.0;0.999	B;P;P	0.61132	0.373;0.884;0.78	T	0.02345	-1.1173	10	0.87932	D	0	.	12.0011	0.53230	0.1744:0.8256:0.0:0.0	.	477;440;440	Q59GD9;P20916;Q567S4	.;MAG_HUMAN;.	L	477;440;440;415	ENSP00000355234:P440L;ENSP00000376048:P440L;ENSP00000440695:P415L	ENSP00000262624:P477L	P	+	2	0	MAG	40492704	0.999000	0.42202	0.772000	0.31596	0.697000	0.40408	5.287000	0.65645	1.212000	0.43366	0.462000	0.41574	CCG		0.662	MAG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466071.1	NM_080600		T	35800864	C	T	35800864	3	4	809	1	0	0	0	0	1	0	0	0	9164	652	23	1	1341	1	MAG	19	35800864	Missense_Mutation	SNP	C	TCGA-UZ-A9PX-01A-11D-A42J-10	16583681	35800864	23328119	93	48495											
LTBP4	8425	hgsc.bcm.edu	37	19	41117892	41117892	+	Splice_Site	SNP	T	T	A	rs1131621		TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr19:41117892T>A	ENST00000602240.1	+	17	2269		c.e17+2		LTBP4_ENST00000545697.1_Splice_Site|LTBP4_ENST00000204005.9_Splice_Site|LTBP4_ENST00000396819.3_Splice_Site|LTBP4_ENST00000243562.9_5'Flank|LTBP4_ENST00000308370.7_Splice_Site			Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4						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)			AGTGCGAGGGTGAGGCCGGGG	0.637																																																0													30	35	33					19																	41117892		2099	4214	6313	SO:0001630	splice_region_variant	8425			Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"Latent transforming growth factor, beta binding proteins"	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000602240.1:c.2269+2T>A	chr19.hg19:g.41117892T>A			O00508|O75412|O75413	Splice_Site	SNP	ENST00000602240.1	hg19		.	.	.	.	.	.	.	.	.	.	T	16.01	3.000075	0.54147	.	.	ENSG00000090006	ENST00000204005;ENST00000545697;ENST00000308370;ENST00000396819	.	.	.	4.5	4.5	0.54988	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0527	0.58964	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	LTBP4	45809732	1.000000	0.71417	1.000000	0.80357	0.626000	0.37791	4.489000	0.60309	1.800000	0.52685	0.459000	0.35465	.		0.637	LTBP4-002	KNOWN	sequence_error|basic	processed_transcript	protein_coding	OTTHUMT00000462815.2	NM_003573	Intron	A	41117892	T	A	41117892	5	1	809	1	0	0	0	0	0	0	1	0	9078	1710	59	5	2741	5	LTBP4	19	41117892	Splice_Site	SNP	T	TCGA-UZ-A9PX-01A-11D-A42J-10	5317028	41117892	18011091	94	48496											
ESF1	51575	hgsc.bcm.edu	37	20	13756539	13756540	+	Frame_Shift_Ins	INS	-	-	T	rs138569918	byFrequency	TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr20:13756539_13756540insT	ENST00000202816.1	-	3	1121_1122	c.1014_1015insA	c.(1012-1017)aaagatfs	p.D339fs		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	339					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						CGAGGAGCATCTTTATCTAATT	0.361																																																0																																										SO:0001589	frameshift_variant	51575				CCDS13117.1	20p12.1	2007-02-12	2006-11-13	2006-11-13	ENSG00000089048	ENSG00000089048			15898	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 6"	C20orf6			Standard	NM_016649		Approved	bA526K24.1	uc002wok.2	Q9H501	OTTHUMG00000031906	ENST00000202816.1:c.1015dupA	chr20.hg19:g.13756542_13756542dupT	ENSP00000202816:p.Asp339fs		Q86X92|Q9H9Q5|Q9HA35|Q9NX93|Q9P1S6	Frame_Shift_Ins	INS	ENST00000202816.1	hg19	CCDS13117.1																																																																																				0.361	ESF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078049.1	NM_016649		T	13756540	-	T	13756539	7	5	809	1	0	1	1	0	0	0	0	0	5253	913	32	0	1588	0	ESF1	20	13756539	Frame_Shift_Ins	INS	-	TCGA-UZ-A9PX-01A-11D-A42J-10		13756539	49268981	95	48497											
ACSS2	55902	hgsc.bcm.edu	37	20	33470621	33470621	+	Frame_Shift_Del	DEL	A	A	-			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr20:33470621delA	ENST00000360596.2	+	2	414	c.203delA	c.(202-204)gaafs	p.E68fs	ACSS2_ENST00000476922.1_3'UTR|ACSS2_ENST00000336325.4_Frame_Shift_Del_p.E18fs|ACSS2_ENST00000253382.5_Frame_Shift_Del_p.E68fs	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	68					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|lipid biosynthetic process (GO:0008610)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	ATTGCCAAGGAATTTTACTGG	0.428																																																0													105	100	102					20																	33470621		2203	4300	6503	SO:0001589	frameshift_variant	55902			AF263614	CCDS13243.1, CCDS42868.1, CCDS42868.2	20q11.22	2012-07-13	2005-09-08	2005-09-08	ENSG00000131069	ENSG00000131069	6.2.1.1	"Acyl-CoA synthetase family"	15814	protein-coding gene	gene with protein product		605832	"acetyl-Coenzyme A synthetase 2 (ADP forming)"	ACAS2		10843999	Standard	NM_018677		Approved	ACS, ACSA, AceCS, dJ1161H23.1	uc010gey.2	Q9NR19	OTTHUMG00000032317	ENST00000360596.2:c.203delA	chr20.hg19:g.33470621delA	ENSP00000353804:p.Glu68fs		A6NE90|Q5QPH2|Q5QPH3|Q8N238|Q96EL0|Q9NQP7|Q9UJ15	Frame_Shift_Del	DEL	ENST00000360596.2	hg19	CCDS13243.1																																																																																				0.428	ACSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078823.3	NM_018677		-	33470621	A	-	33470621	7	5	809	1	0	1	0	1	0	0	0	0	189	246	9	0	209	0	ACSS2	20	33470621	Frame_Shift_Del	DEL	A	TCGA-UZ-A9PX-01A-11D-A42J-10	19714082	33470621	29554899	96	48498											
LSM14B	149986	hgsc.bcm.edu	37	20	60705652	60705652	+	Missense_Mutation	SNP	T	T	C			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr20:60705652T>C	ENST00000279068.6	+	6	900	c.740T>C	c.(739-741)aTc>aCc	p.I247T	LSM14B_ENST00000253001.4_Missense_Mutation_p.I247T	NM_144703.2	NP_653304.2	Q9BX40	LS14B_HUMAN	LSM14B, SCD6 homolog B (S. cerevisiae)	247	DFDF. {ECO:0000255|PROSITE- ProRule:PRU00845}.				multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)	ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|lung(4)	8	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			GAAAACACAATCAAATTTGAG	0.438																																																0													93	89	90					20																	60705652		1896	4113	6009	SO:0001583	missense	149986			AF172328	CCDS46626.1	20q13.33	2010-01-27	2006-12-21	2006-01-24	ENSG00000149657	ENSG00000149657			15887	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 40", "family with sequence similarity 61, member B", "LSM14 homolog B (SCD6, S. cerevisiae)"	C20orf40, FAM61B			Standard	NM_144703		Approved	FT005, bA11M20.3, FLJ25473, LSM13, RAP55B	uc010gjy.1	Q9BX40	OTTHUMG00000032901	ENST00000279068.6:c.740T>C	chr20.hg19:g.60705652T>C	ENSP00000279068:p.Ile247Thr		Q6PFW8|Q96LH8	Missense_Mutation	SNP	ENST00000279068.6	hg19	CCDS46626.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.657274	0.88154	.	.	ENSG00000149657	ENST00000279068;ENST00000253001;ENST00000444156;ENST00000400318;ENST00000279069;ENST00000370906;ENST00000361670	T;T;T;T	0.44881	0.98;0.93;0.96;0.91	5.59	5.59	0.84812	.	0.055865	0.64402	D	0.000001	T	0.55705	0.1937	L	0.36672	1.1	0.51233	D	0.999912	D;D;D;D;D	0.69078	0.997;0.997;0.997;0.997;0.974	D;D;D;D;P	0.83275	0.994;0.994;0.994;0.996;0.647	T	0.58719	-0.7587	10	0.72032	D	0.01	.	15.4482	0.75248	0.0:0.0:0.0:1.0	.	167;203;247;273;247	E9PG81;C9J454;Q9BX40;Q5TBQ0;Q9BX40-2	.;.;LS14B_HUMAN;.;.	T	247;247;203;273;221;203;167	ENSP00000279068:I247T;ENSP00000253001:I247T;ENSP00000383172:I273T;ENSP00000355209:I167T	ENSP00000253001:I247T	I	+	2	0	LSM14B	60139047	1.000000	0.71417	0.999000	0.59377	0.910000	0.53928	7.768000	0.85345	2.125000	0.65367	0.454000	0.30748	ATC		0.438	LSM14B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079996.4	NM_144703		C	60705652	T	C	60705652	3	2	809	1	0	0	0	0	1	0	0	0	9057	1435	50	3	762	3	LSM14B	20	60705652	Missense_Mutation	SNP	T	TCGA-UZ-A9PX-01A-11D-A42J-10	27235031	60705652	2319868	97	48499											
BCL2L13	23786	hgsc.bcm.edu	37	22	18185096	18185096	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr22:18185096G>A	ENST00000317582.5	+	6	891	c.544G>A	c.(544-546)Ggc>Agc	p.G182S	BCL2L13_ENST00000355028.3_Intron|BCL2L13_ENST00000543133.1_Missense_Mutation_p.G20S|BCL2L13_ENST00000399782.1_Missense_Mutation_p.G182S|BCL2L13_ENST00000337612.5_Missense_Mutation_p.G20S|BCL2L13_ENST00000538149.1_Missense_Mutation_p.G58S|BCL2L13_ENST00000493680.1_Missense_Mutation_p.G182S|BCL2L13_ENST00000418951.2_Intron	NM_015367.3	NP_056182.2	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	182					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2)	15		all_epithelial(15;0.123)		Lung(27;0.199)		GCTGCAGTTTGGCGTGACATA	0.408																																																0													115	108	110					22																	18185096		2203	4300	6503	SO:0001583	missense	23786			AF146568	CCDS13746.1, CCDS59447.1, CCDS59448.1, CCDS74810.1, CCDS74811.1, CCDS74812.1, CCDS74813.1, CCDS74814.1	22q11	2014-03-07			ENSG00000099968	ENSG00000099968			17164	protein-coding gene	gene with protein product						11262395, 11381032	Standard	NM_015367		Approved	MIL1, BCL-RAMBO	uc002zmw.4	Q9BXK5	OTTHUMG00000150088	ENST00000317582.5:c.544G>A	chr22.hg19:g.18185096G>A	ENSP00000318883:p.Gly182Ser		B3KPE7|Q96B37|Q96IB7|Q9BY01|Q9HC05|Q9UFE0|Q9UKN3	Nonsense_Mutation	SNP	ENST00000317582.5	hg19	CCDS13746.1	.	.	.	.	.	.	.	.	.	.	G	34	5.326602	0.95708	.	.	ENSG00000099968	ENST00000399782;ENST00000317582;ENST00000543133;ENST00000538149;ENST00000337612;ENST00000493680	T;T;T;T;T;T	0.04551	3.6;3.6;3.6;3.6;3.6;3.6	5.95	5.95	0.96441	Apoptosis regulator, Bcl2-like (1);Apoptosis regulator, Bcl-2, BH (2);	0.000000	0.85682	D	0.000000	T	0.22282	0.0537	M	0.69823	2.125	0.58432	D	0.999991	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.00008	-1.2486	10	0.54805	T	0.06	-13.5484	18.1662	0.89727	0.0:0.0:1.0:0.0	.	58;182;182	B7Z238;Q9BXK5;Q9BXK5-2	.;B2L13_HUMAN;.	S	182;182;20;58;20;182	ENSP00000382682:G182S;ENSP00000318883:G182S;ENSP00000437667:G20S;ENSP00000441344:G58S;ENSP00000338932:G20S;ENSP00000434764:G182S	ENSP00000318883:G182S	G	+	1	0	BCL2L13	16565096	1.000000	0.71417	0.994000	0.49952	0.868000	0.49771	5.477000	0.66799	2.824000	0.97209	0.655000	0.94253	GGC		0.408	BCL2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316184.1	NM_015367		A	18185096	G	A	18185096	3	1	809	1	0	0	0	0	1	0	0	0	1371	1348	47	2	562	2	BCL2L13	22	18185096	Missense_Mutation	SNP	G	TCGA-UZ-A9PX-01A-11D-A42J-10		18185096	33119470	98	48500											
TCN2	6948	hgsc.bcm.edu	37	22	31011613	31011613	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr22:31011613G>A	ENST00000215838.3	+	6	1273	c.779G>A	c.(778-780)gGg>gAg	p.G260E	TCN2_ENST00000405742.3_Missense_Mutation_p.G256E|TCN2_ENST00000407817.3_Missense_Mutation_p.G233E			P20062	TCO2_HUMAN	transcobalamin II	260					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCCATGCGTGGGGCAGAACTG	0.572																																																0													71	63	66					22																	31011613		2203	4300	6503	SO:0001583	missense	6948				CCDS13881.1, CCDS54519.1	22q12.2	2014-09-17	2010-05-11		ENSG00000185339	ENSG00000185339			11653	protein-coding gene	gene with protein product	"macrocytic anemia"	613441	"transcobalamin II; macrocytic anemia"			1708393, 7742531	Standard	NM_000355		Approved	D22S676, D22S750, TC2	uc003aip.2	P20062	OTTHUMG00000151095	ENST00000215838.3:c.779G>A	chr22.hg19:g.31011613G>A	ENSP00000215838:p.Gly260Glu		Q96FD4|Q9BVI8|Q9UCI5|Q9UCI6|Q9UDM0	Missense_Mutation	SNP	ENST00000215838.3	hg19	CCDS13881.1	.	.	.	.	.	.	.	.	.	.	G	0.301	-0.974151	0.02215	.	.	ENSG00000185339	ENST00000215838;ENST00000405742;ENST00000407817	T;T;T	0.24908	1.83;1.83;1.83	5.33	-0.87	0.10646	.	0.953276	0.08911	N	0.875895	T	0.17365	0.0417	L	0.46157	1.445	0.09310	N	1	B;B;B	0.17465	0.022;0.017;0.017	B;B;B	0.17433	0.018;0.007;0.007	T	0.39961	-0.9588	10	0.02654	T	1	-0.0037	7.6817	0.28518	0.1555:0.4063:0.4382:0.0	.	233;256;260	Q96FD4;B5MBX2;P20062	.;.;TCO2_HUMAN	E	260;256;233	ENSP00000215838:G260E;ENSP00000385914:G256E;ENSP00000384914:G233E	ENSP00000215838:G260E	G	+	2	0	TCN2	29341613	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.178000	0.16820	0.147000	0.19030	-0.150000	0.13652	GGG		0.572	TCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321282.2	NM_000355		A	31011613	G	A	31011613	3	1	809	1	0	0	0	0	1	0	0	0	15712	1232	43	2	801	2	TCN2	22	31011613	Missense_Mutation	SNP	G	TCGA-UZ-A9PX-01A-11D-A42J-10	12826517	31011613	20292953	99	48501											
RNF185	91445	hgsc.bcm.edu	37	22	31600511	31600511	+	Missense_Mutation	SNP	T	T	A			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr22:31600511T>A	ENST00000326132.6	+	7	677	c.518T>A	c.(517-519)tTc>tAc	p.F173Y	RNF185-AS1_ENST00000526089.1_RNA|RNF185_ENST00000266252.7_Missense_Mutation_p.F117Y|RNF185_ENST00000426256.2_Missense_Mutation_p.F111Y	NM_152267.3	NP_689480.2	Q96GF1	RN185_HUMAN	ring finger protein 185	173					autophagy (GO:0006914)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(3)|skin(1)	6						GACGAGCAGTTCCTGTCACGC	0.552																																																0													139	119	125					22																	31600511		2203	4298	6501	SO:0001583	missense	91445				CCDS13890.1, CCDS46689.1	22q12.2	2013-01-09			ENSG00000138942	ENSG00000138942		"RING-type (C3HC4) zinc fingers"	26783	protein-coding gene	gene with protein product	"hypothetical protein FLJ38628"					12477932	Standard	NM_152267		Approved	FLJ38628	uc003akb.3	Q96GF1	OTTHUMG00000151253	ENST00000326132.6:c.518T>A	chr22.hg19:g.31600511T>A	ENSP00000320508:p.Phe173Tyr		A8K5C1|A9X3T8|Q8N900	Missense_Mutation	SNP	ENST00000326132.6	hg19	CCDS13890.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.241643	0.79912	.	.	ENSG00000138942	ENST00000426256;ENST00000326132;ENST00000266252	D	0.95554	-3.74	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.95733	0.8612	L	0.37561	1.115	0.54753	D	0.999989	P;D;P	0.61080	0.877;0.989;0.805	D;D;P	0.67725	0.916;0.953;0.827	D	0.94992	0.8135	10	0.33940	T	0.23	.	14.9068	0.70727	0.0:0.0:0.0:1.0	.	117;111;173	Q96GF1-2;B4DMD6;Q96GF1	.;.;RN185_HUMAN	Y	111;173;117	ENSP00000320508:F173Y	ENSP00000266252:F117Y	F	+	2	0	RNF185	29930511	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.454000	0.80714	2.169000	0.68431	0.528000	0.53228	TTC		0.552	RNF185-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321927.2	NM_152267		A	31600511	T	A	31600511	3	1	809	1	0	0	0	0	1	0	0	0	13474	1783	62	5	540	5	RNF185	22	31600511	Missense_Mutation	SNP	T	TCGA-UZ-A9PX-01A-11D-A42J-10	588898	31600511	19704055	100	48502											
SMC1B	26150	hgsc.bcm.edu	37	22	45809422	45809422	+	5'Flank	SNP	C	C	G			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chr22:45809422C>G	ENST00000342894.3	+	0	0				SMC1B_ENST00000404354.3_Silent_p.V9V|SMC1B_ENST00000357450.4_Silent_p.V9V|RIBC2_ENST00000538017.1_5'Flank			Q9H4K1	RIBC2_HUMAN	RIB43A domain with coiled-coils 2							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)		TGAAATTTTCCACAAGCAGCA	0.637																																																0													21	27	25					22																	45809422		1935	4141	6076	SO:0001631	upstream_gene_variant	27127			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		chr22.hg19:g.45809422C>G	Exception_encountered		Q6ICD0|Q9Y413	Silent	SNP	ENST00000342894.3	hg19																																																																																					0.637	RIBC2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000322250.1	NM_015653		G	45809422	C	G	45809422	1	3	809	0	1	0	0	0	0	0	0	0	14788	581	21	4		4	SMC1B	22	45809422	5'Flank	SNP	C	TCGA-UZ-A9PX-01A-11D-A42J-10	14208911	45809422	5495144	101	48503											
PTCHD1	139411	hgsc.bcm.edu	37	X	23353163	23353163	+	Silent	SNP	G	G	A			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chrX:23353163G>A	ENST00000379361.4	+	1	1031	c.171G>A	c.(169-171)gcG>gcA	p.A57A		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	57					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						ACCTGCTGGCGCCCCAGCACA	0.657																																																0													48	52	50					X																	23353163		2202	4298	6500	SO:0001819	synonymous_variant	139411			AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.171G>A	chrX.hg19:g.23353163G>A			B4DQH0|Q0IJ60|Q6P6B8	Silent	SNP	ENST00000379361.4	hg19	CCDS35215.2																																																																																				0.657	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056047.2	NM_173495		A	23353163	G	A	23353163	2	1	809	1	0	0	0	0	0	0	0	1	12737	1074	38	1		1	PTCHD1	23	23353163	Silent	SNP	G	TCGA-UZ-A9PX-01A-11D-A42J-10		23353163	131917397	102	48504											
FAM48B1	100130302	hgsc.bcm.edu	37	X	24382400	24382401	+	IGR	INS	-	-	TAT			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chrX:24382400_24382401insTAT								AC004552.1 (15377 upstream) : PDK3 (100936 downstream)																							gctgctgctgctgctgctgctg	0.599																																																0																																										SO:0001628	intergenic_variant	100130302																															chrX.hg19:g.24382400_24382401insTAT				In_Frame_Ins	INS		hg19																																																																																				0	0.599									TAT	24382401	-	TAT	24382400	6	5	809	0	1	1	1	0	0	0	0	0	5575	797	28	0		0	FAM48B1	23	24382400	IGR	INS	-	TCGA-UZ-A9PX-01A-11D-A42J-10	1029237	24382400	130888160	103	48505											
ELK1	2002	hgsc.bcm.edu	37	X	47497265	47497265	+	Missense_Mutation	SNP	C	C	T			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chrX:47497265C>T	ENST00000247161.3	-	4	1070	c.971G>A	c.(970-972)aGc>aAc	p.S324N	ELK1_ENST00000376983.3_Missense_Mutation_p.S324N|ELK1_ENST00000592066.1_Missense_Mutation_p.S270N|ELK1_ENST00000343894.4_Intron	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN	ELK1, member of ETS oncogene family	324					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						CAGGCTCGGGCTGAGTGGAAG	0.716																																																0													6	7	7					X																	47497265		2104	4101	6205	SO:0001583	missense	2002			M25269	CCDS14283.1, CCDS59165.1	Xp11.23	2010-07-20			ENSG00000126767	ENSG00000126767			3321	protein-coding gene	gene with protein product		311040				2539641	Standard	NM_001114123		Approved		uc010nhv.4	P19419	OTTHUMG00000021452	ENST00000247161.3:c.971G>A	chrX.hg19:g.47497265C>T	ENSP00000247161:p.Ser324Asn		B2R7H4|O75606|O95058|Q969X8|Q9UJM4	Missense_Mutation	SNP	ENST00000247161.3	hg19	CCDS14283.1	.	.	.	.	.	.	.	.	.	.	c	23.9	4.467119	0.84533	.	.	ENSG00000126767	ENST00000247161;ENST00000542746;ENST00000376983	T;T	0.26223	1.75;1.75	5.09	4.15	0.48705	.	0.240251	0.45361	D	0.000377	T	0.27629	0.0679	L	0.48642	1.525	0.80722	D	1	P	0.51791	0.948	P	0.48738	0.588	T	0.00842	-1.1544	10	0.37606	T	0.19	.	9.4929	0.38971	0.0:0.7904:0.2096:0.0	.	324	P19419	ELK1_HUMAN	N	324;34;324	ENSP00000247161:S324N;ENSP00000366182:S324N	ENSP00000247161:S324N	S	-	2	0	ELK1	47382209	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	2.433000	0.44793	2.447000	0.82792	0.597000	0.82753	AGC		0.716	ELK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056436.1	NM_005229		T	47497265	C	T	47497265	3	4	809	1	0	0	0	0	1	0	0	0	5061	797	28	2	327	2	ELK1	23	47497265	Missense_Mutation	SNP	C	TCGA-UZ-A9PX-01A-11D-A42J-10	23114865	47497265	107773295	104	48506											
CLCN5	1184	hgsc.bcm.edu	37	X	49846494	49846494	+	Missense_Mutation	SNP	A	A	G			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chrX:49846494A>G	ENST00000307367.2	+	6	1004	c.713A>G	c.(712-714)aAg>aGg	p.K238R	CLCN5_ENST00000376088.3_Missense_Mutation_p.K308R|CLCN5_ENST00000376091.3_Missense_Mutation_p.K308R|CLCN5_ENST00000376108.3_Missense_Mutation_p.K238R			P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	238					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)					AATGAAGCCAAGCGCAGAGAG	0.468																																																0													98	77	84					X																	49846494		2203	4300	6503	SO:0001583	missense	1184			X91906	CCDS14328.1, CCDS48115.1, CCDS69763.1	Xp11.23-p11.22	2012-09-26	2012-02-23		ENSG00000171365	ENSG00000171365		"Ion channels / Chloride channels : Voltage-sensitive"	2023	protein-coding gene	gene with protein product	"Dent disease"	300008	"nephrolithiasis 2, X-linked", "nephrolithiasis 1 (X-linked)", "chloride channel 5"	NPHL2, NPHL1		7874126, 8111383, 8099916, 8559248, 9602200	Standard	NM_001272102		Approved	DENTS, XLRH, hClC-K2, hCIC-K2, CLC5, XRN, ClC-5	uc004doq.1	P51795	OTTHUMG00000021514	ENST00000307367.2:c.713A>G	chrX.hg19:g.49846494A>G	ENSP00000304257:p.Lys238Arg		A1L475|B3KPN6|Q5JQD5|Q7RTN8	Missense_Mutation	SNP	ENST00000307367.2	hg19	CCDS14328.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.684586	0.88639	.	.	ENSG00000171365	ENST00000376088;ENST00000450422;ENST00000376091;ENST00000376108;ENST00000307367	D;D;D;D	0.93763	-3.28;-3.28;-3.28;-3.28	6.08	6.08	0.98989	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.94823	0.8328	L	0.43757	1.38	0.80722	D	1	P;D	0.67145	0.932;0.996	P;D	0.76071	0.718;0.987	D	0.94286	0.7524	10	0.39692	T	0.17	-2.9127	14.3879	0.66958	1.0:0.0:0.0:0.0	.	238;308	P51795;P51795-2	CLCN5_HUMAN;.	R	308;140;308;238;238	ENSP00000365256:K308R;ENSP00000365259:K308R;ENSP00000365276:K238R;ENSP00000304257:K238R	ENSP00000304257:K238R	K	+	2	0	CLCN5	49733234	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	9.185000	0.94900	2.044000	0.60594	0.486000	0.48141	AAG		0.468	CLCN5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056544.1			G	49846494	A	G	49846494	3	3	809	1	0	0	0	0	1	0	0	0	3468	72	3	3	949	3	CLCN5	23	49846494	Missense_Mutation	SNP	A	TCGA-UZ-A9PX-01A-11D-A42J-10	2349229	49846494	105424066	105	48507											
NAA10	8260	hgsc.bcm.edu	37	X	153199832	153199832	+	Missense_Mutation	SNP	G	G	T			TCGA-UZ-A9PX-01A-11D-A42J-10	TCGA-UZ-A9PX-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b648818d-4e4e-47da-a20b-366ef8d54eaf	bd3cecf6-5961-4472-b1dc-a7d96c6da4a1	g.chrX:153199832G>T	ENST00000464845.1	-	2	436	c.118C>A	c.(118-120)Cag>Aag	p.Q40K	NAA10_ENST00000370009.1_Missense_Mutation_p.Q40K|NAA10_ENST00000370015.4_Missense_Mutation_p.Q40K|NAA10_ENST00000393712.3_Missense_Mutation_p.Q40K|NAA10_ENST00000393710.3_5'UTR	NM_001256120.1|NM_003491.3	NP_001243049.1|NP_003482.1	P41227	NAA10_HUMAN	N(alpha)-acetyltransferase 10, NatA catalytic subunit	40	Interaction with NAA15.|N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				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						CTGCCCACCTGGGGCCAGGAA	0.562																																					Ovarian(94;1099 1433 38814 45882 51063)											0													66	51	56					X																	153199832		2200	4299	6499	SO:0001583	missense	8260			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.118C>A	chrX.hg19:g.153199832G>T	ENSP00000417763:p.Gln40Lys		A6NM98	Missense_Mutation	SNP	ENST00000464845.1	hg19	CCDS14737.1	.	.	.	.	.	.	.	.	.	.	G	34	5.294637	0.95546	.	.	ENSG00000102030	ENST00000464845;ENST00000370015;ENST00000393712;ENST00000370009;ENST00000545734;ENST00000370011;ENST00000432089	T;T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;1.4;1.4	4.66	4.66	0.58398	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);	0.065490	0.64402	D	0.000006	T	0.47948	0.1473	M	0.77712	2.385	0.80722	D	1	B;B;P	0.42375	0.417;0.227;0.778	B;P;P	0.44732	0.356;0.459;0.459	T	0.57866	-0.7737	10	0.87932	D	0	-14.9532	15.5532	0.76170	0.0:0.0:1.0:0.0	.	40;40;40	B7Z9N2;A6NM98;P41227	.;.;NAA10_HUMAN	K	40	ENSP00000417763:Q40K;ENSP00000359032:Q40K;ENSP00000377315:Q40K;ENSP00000359026:Q40K;ENSP00000359028:Q40K;ENSP00000413668:Q40K	ENSP00000359026:Q40K	Q	-	1	0	NAA10	152853026	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.859000	0.92264	1.911000	0.55334	0.529000	0.55759	CAG		0.562	NAA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061108.2	NM_003491		T	153199832	G	T	153199832	3	4	809	1	0	0	0	0	1	0	0	0	10118	1357	47	4	617	4	NAA10	23	153199832	Missense_Mutation	SNP	G	TCGA-UZ-A9PX-01A-11D-A42J-10	103353338	153199832	2070728	106	48508											
MUTYH	4595	hgsc.bcm.edu	37	1	45797352	45797352	+	Silent	SNP	C	C	T			TCGA-UZ-A9PZ-01A-11D-A42J-10	TCGA-UZ-A9PZ-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d803a908-b844-4475-8169-a7139df2f89e	027f6901-bb89-4fb7-8e82-7dd1ba7fcaf3	g.chr1:45797352C>T	ENST00000372098.3	-	12	1291	c.1158G>A	c.(1156-1158)ctG>ctA	p.L386L	MUTYH_ENST00000488731.2_Intron|MUTYH_ENST00000372110.3_Silent_p.L376L|MUTYH_ENST00000372100.5_Silent_p.L372L|MUTYH_ENST00000355498.2_Silent_p.L361L|MUTYH_ENST00000372115.3_Silent_p.L375L|MUTYH_ENST00000354383.6_Silent_p.L362L|MUTYH_ENST00000450313.1_Silent_p.L389L|MUTYH_ENST00000528013.2_Silent_p.L375L|MUTYH_ENST00000529984.1_Intron|MUTYH_ENST00000528332.2_Intron|MUTYH_ENST00000372104.1_Silent_p.L361L|MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000448481.1_Silent_p.L372L|MUTYH_ENST00000456914.2_Silent_p.L361L			Q9UIF7	MUTYH_HUMAN	mutY homolog	386	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)					GCCTCTGCACCAGCAGAATTT	0.617			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis																													yes	Rec		Adenomatous polyposis coli	1	1p34.3-1p32.1	4595	mutY homolog (E. coli)		E	0													36	41	40					1																	45797352		2199	4299	6498	SO:0001819	synonymous_variant	4595	Familial Cancer Database	MAP, MYH-associated polyposis	U63329	CCDS520.1, CCDS41320.1, CCDS41321.1, CCDS41322.1, CCDS72776.1, CCDS72777.1	1p34.1	2014-09-17	2013-09-12		ENSG00000132781	ENSG00000132781			7527	protein-coding gene	gene with protein product		604933	"mutY (E. coli) homolog", "mutY homolog (E. coli)"			7823963, 10684930	Standard	NM_012222		Approved	MYH	uc009vxp.3	Q9UIF7	OTTHUMG00000007682	ENST00000372098.3:c.1158G>A	chr1.hg19:g.45797352C>T			D3DPZ4|Q15830|Q9UBP2|Q9UBS7|Q9UIF4|Q9UIF5|Q9UIF6	Silent	SNP	ENST00000372098.3	hg19	CCDS520.1																																																																																				0.617	MUTYH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020529.1	NM_012222		T	45797352	C	T	45797352	2	4	810	1	0	0	0	0	0	0	0	1	9995	581	21	2		2	MUTYH	1	45797352	Silent	SNP	C	TCGA-UZ-A9PZ-01A-11D-A42J-10		45797352	203453269	1	48509											
LRRC42	115353	hgsc.bcm.edu	37	1	54433526	54433526	+	Frame_Shift_Del	DEL	A	A	-			TCGA-UZ-A9PZ-01A-11D-A42J-10	TCGA-UZ-A9PZ-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d803a908-b844-4475-8169-a7139df2f89e	027f6901-bb89-4fb7-8e82-7dd1ba7fcaf3	g.chr1:54433526delA	ENST00000371370.3	+	9	1722	c.1201delA	c.(1201-1203)acafs	p.T401fs	LRRC42_ENST00000319223.4_Frame_Shift_Del_p.T401fs	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	401										breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						GGAGTCAGAGACAGAACAGAA	0.423																																																0													93	93	93					1																	54433526		2203	4300	6503	SO:0001589	frameshift_variant	115353			AK075201	CCDS585.1	1p33-p32.1	2014-02-12			ENSG00000116212	ENSG00000116212			28792	protein-coding gene	gene with protein product						12477932	Standard	NM_001256409		Approved	MGC8974	uc001cwj.2	Q9Y546	OTTHUMG00000008436	ENST00000371370.3:c.1201delA	chr1.hg19:g.54433526delA	ENSP00000360421:p.Thr401fs		D3DQ46|Q8N2Q8	Frame_Shift_Del	DEL	ENST00000371370.3	hg19	CCDS585.1																																																																																				0.423	LRRC42-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023250.1	NM_052940		-	54433526	A	-	54433526	7	5	810	1	0	1	0	1	0	0	0	0	9002	275	10	0	1227	0	LRRC42	1	54433526	Frame_Shift_Del	DEL	A	TCGA-UZ-A9PZ-01A-11D-A42J-10	8636174	54433526	194817095	2	48510											
RAG1AP1	55974	hgsc.bcm.edu	37	1	155110120	155110120	+	Silent	SNP	T	T	C			TCGA-UZ-A9PZ-01A-11D-A42J-10	TCGA-UZ-A9PZ-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d803a908-b844-4475-8169-a7139df2f89e	027f6901-bb89-4fb7-8e82-7dd1ba7fcaf3	g.chr1:155110120T>C	ENST00000368404.4	+	4	428	c.366T>C	c.(364-366)ccT>ccC	p.P122P	SLC50A1_ENST00000368401.5_Silent_p.P67P|SLC50A1_ENST00000368405.3_Intron|SLC50A1_ENST00000484157.1_Silent_p.P57P|SLC50A1_ENST00000303343.8_Intron	NM_018845.3	NP_061333.2	Q9BRV3	SWET1_HUMAN	solute carrier family 50 (sugar efflux transporter), member 1	122					carbohydrate transport (GO:0008643)|DNA recombination (GO:0006310)|glucoside transport (GO:0042946)|positive regulation of gene expression, epigenetic (GO:0045815)	endomembrane system (GO:0012505)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glucoside transmembrane transporter activity (GO:0042947)			endometrium(1)|lung(1)|ovary(1)|skin(1)	4						TACCCAACCCTGAGGCCCGGC	0.577																																																0													75	77	76					1																	155110120		2203	4300	6503	SO:0001819	synonymous_variant	55974			AF126023, AF126024	CCDS1093.1, CCDS44238.1, CCDS44239.1, CCDS72929.1, CCDS72930.1	1q22	2013-07-17	2013-07-17	2010-11-30	ENSG00000169241	ENSG00000169241		"Solute carriers"	30657	protein-coding gene	gene with protein product	"stromal cell protein"	613683	"recombination activating gene 1 activating protein 1"	RAG1AP1		21107422	Standard	NM_018845		Approved	SCP, RP11-540D14.5, slv, RZPDo834D038D, HsSWEET1, SWEET1	uc001fhj.4	Q9BRV3	OTTHUMG00000035333	ENST00000368404.4:c.366T>C	chr1.hg19:g.155110120T>C			Q5SR64|Q6IAK6|Q96DC5|Q9UHQ2|Q9UHQ3	Silent	SNP	ENST00000368404.4	hg19	CCDS1093.1																																																																																				0.577	SLC50A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085505.1	NM_018845		C	155110120	T	C	155110120	2	2	810	1	0	0	0	0	0	0	0	1	13010	1567	55	3		3	RAG1AP1	1	155110120	Silent	SNP	T	TCGA-UZ-A9PZ-01A-11D-A42J-10	100676594	155110120	94140501	3	48511											
ATP1A4	480	hgsc.bcm.edu	37	1	160146320	160146320	+	Silent	SNP	A	A	C			TCGA-UZ-A9PZ-01A-11D-A42J-10	TCGA-UZ-A9PZ-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d803a908-b844-4475-8169-a7139df2f89e	027f6901-bb89-4fb7-8e82-7dd1ba7fcaf3	g.chr1:160146320A>C	ENST00000368081.4	+	17	2989	c.2518A>C	c.(2518-2520)Agg>Cgg	p.R840R	ATP1A4_ENST00000470705.1_5'Flank|ATP1A4_ENST00000418334.1_3'UTR	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	840					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CATCATGAAGAGGCTTCCAAG	0.542																																																0													77	67	70					1																	160146320		2203	4300	6503	SO:0001819	synonymous_variant	480			BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"ATPases / P-type"	14073	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-4", "sodium pump subunit alpha-4", "sodium-potassium ATPase catalytic subunit alpha-4"	607321	"ATPase, Na+/K+ transporting, alpha polypeptide-like 2"	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.2518A>C	chr1.hg19:g.160146320A>C			Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Silent	SNP	ENST00000368081.4	hg19	CCDS1197.1																																																																																				0.542	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699		C	160146320	A	C	160146320	2	2	810	1	0	0	0	0	0	0	0	1	1131	295	11	5		5	ATP1A4	1	160146320	Silent	SNP	A	TCGA-UZ-A9PZ-01A-11D-A42J-10	5036200	160146320	89104301	4	48512											
GREB1	9687	hgsc.bcm.edu	37	2	11755338	11755338	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9PZ-01A-11D-A42J-10	TCGA-UZ-A9PZ-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d803a908-b844-4475-8169-a7139df2f89e	027f6901-bb89-4fb7-8e82-7dd1ba7fcaf3	g.chr2:11755338G>A	ENST00000381486.2	+	20	3544	c.3244G>A	c.(3244-3246)Gct>Act	p.A1082T	GREB1_ENST00000234142.5_Missense_Mutation_p.A1082T|GREB1_ENST00000396123.1_Missense_Mutation_p.A80T	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1082						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)		GGAGAAGGGGGCTAGGAACGA	0.582																																					Ovarian(39;850 945 2785 23371 33093)											0													75	80	78					2																	11755338		2094	4224	6318	SO:0001583	missense	9687				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.3244G>A	chr2.hg19:g.11755338G>A	ENSP00000370896:p.Ala1082Thr		A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	hg19	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	G	9.541	1.113334	0.20795	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000396123	T;T;T	0.22336	3.27;3.27;1.96	5.12	-2.51	0.06365	.	1.032170	0.07616	N	0.926316	T	0.06735	0.0172	N	0.04203	-0.255	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.37663	-0.9696	10	0.07990	T	0.79	-38.687	3.2282	0.06739	0.2075:0.3012:0.3892:0.1021	.	1082	Q4ZG55	GREB1_HUMAN	T	1082;1082;80	ENSP00000370896:A1082T;ENSP00000234142:A1082T;ENSP00000379429:A80T	ENSP00000234142:A1082T	A	+	1	0	GREB1	11672789	0.000000	0.05858	0.001000	0.08648	0.962000	0.63368	-0.227000	0.09126	-0.373000	0.07979	-0.254000	0.11334	GCT		0.582	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		A	11755338	G	A	11755338	3	1	810	1	0	0	0	0	1	0	0	0	6762	1203	42	2	3426	2	GREB1	2	11755338	Missense_Mutation	SNP	G	TCGA-UZ-A9PZ-01A-11D-A42J-10		11755338	231444035	5	48513											
NAT8	9027	hgsc.bcm.edu	37	2	73868455	73868455	+	Missense_Mutation	SNP	A	A	G			TCGA-UZ-A9PZ-01A-11D-A42J-10	TCGA-UZ-A9PZ-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d803a908-b844-4475-8169-a7139df2f89e	027f6901-bb89-4fb7-8e82-7dd1ba7fcaf3	g.chr2:73868455A>G	ENST00000272425.3	-	2	450	c.301T>C	c.(301-303)Tac>Cac	p.Y101H		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						TCACTCAGGTAGGATTTGGTA	0.537																																																0													126	119	122					2																	73868455		2203	4300	6503	SO:0001583	missense	9027			AB013094	CCDS1926.1	2p13.2	2012-03-20	2008-09-24		ENSG00000144035	ENSG00000144035			18069	protein-coding gene	gene with protein product		606716	"N-acetyltransferase 8"			11397015, 9852678, 19011241	Standard	NM_003960		Approved	Hcml1, TSC501, GLA, ATase2	uc002sji.1	Q9UHE5	OTTHUMG00000129818	ENST00000272425.3:c.301T>C	chr2.hg19:g.73868455A>G	ENSP00000272425:p.Tyr101His			Missense_Mutation	SNP	ENST00000272425.3	hg19	CCDS1926.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.108127	0.77096	.	.	ENSG00000144035	ENST00000272425	T	0.30714	1.52	3.86	3.86	0.44501	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	D	0.000000	T	0.57784	0.2077	M	0.86420	2.815	0.44061	D	0.996801	D	0.89917	1.0	D	0.80764	0.994	T	0.65384	-0.6181	10	0.87932	D	0	-39.9926	11.3146	0.49383	1.0:0.0:0.0:0.0	.	101	Q9UHE5	NAT8_HUMAN	H	101	ENSP00000272425:Y101H	ENSP00000272425:Y101H	Y	-	1	0	NAT8	73721963	1.000000	0.71417	0.423000	0.26634	0.335000	0.28730	5.761000	0.68801	1.715000	0.51383	0.524000	0.50904	TAC		0.537	NAT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327854.1	NM_003960		G	73868455	A	G	73868455	3	3	810	1	0	0	0	0	1	0	0	0	10181	420	15	3	386	3	NAT8	2	73868455	Missense_Mutation	SNP	A	TCGA-UZ-A9PZ-01A-11D-A42J-10	62113117	73868455	169330918	6	48514											
SCTR	6344	hgsc.bcm.edu	37	2	120221714	120221714	+	Silent	SNP	G	G	A			TCGA-UZ-A9PZ-01A-11D-A42J-10	TCGA-UZ-A9PZ-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d803a908-b844-4475-8169-a7139df2f89e	027f6901-bb89-4fb7-8e82-7dd1ba7fcaf3	g.chr2:120221714G>A	ENST00000019103.5	-	6	888	c.621C>T	c.(619-621)taC>taT	p.Y207Y		NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor	207					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)	GGGCATCGCAGTAGGTGACAT	0.572																																																0													176	152	160					2																	120221714		2203	4300	6503	SO:0001819	synonymous_variant	6344				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.621C>T	chr2.hg19:g.120221714G>A			Q12961|Q13213|Q53T00	Silent	SNP	ENST00000019103.5	hg19	CCDS2127.1																																																																																				0.572	SCTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254198.2			A	120221714	G	A	120221714	2	1	810	1	0	0	0	0	0	0	0	1	13949	1024	36	2		2	SCTR	2	120221714	Silent	SNP	G	TCGA-UZ-A9PZ-01A-11D-A42J-10	46353259	120221714	122977659	7	48515											
GPR155	151556	hgsc.bcm.edu	37	2	175304729	175304729	+	Missense_Mutation	SNP	C	C	G			TCGA-UZ-A9PZ-01A-11D-A42J-10	TCGA-UZ-A9PZ-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d803a908-b844-4475-8169-a7139df2f89e	027f6901-bb89-4fb7-8e82-7dd1ba7fcaf3	g.chr2:175304729C>G	ENST00000392552.2	-	15	2447	c.2209G>C	c.(2209-2211)Gaa>Caa	p.E737Q	GPR155_ENST00000459996.1_5'UTR|GPR155_ENST00000295500.4_Missense_Mutation_p.E737Q|GPR155_ENST00000392551.2_Missense_Mutation_p.E737Q	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	737					cognition (GO:0050890)|intracellular signal transduction (GO:0035556)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						TCCCTGTTTTCTGCTGTGTCT	0.373																																																0													126	124	124					2																	175304729		2203	4300	6503	SO:0001583	missense	151556			AY255528	CCDS2259.1, CCDS74605.1	2q31.1	2012-04-10			ENSG00000163328	ENSG00000163328			22951	protein-coding gene	gene with protein product						12679517	Standard	NM_001033045		Approved	DEPDC3, DEP.7, FLJ31819, PGR22	uc002uiu.4	Q7Z3F1	OTTHUMG00000132336	ENST00000392552.2:c.2209G>C	chr2.hg19:g.175304729C>G	ENSP00000376335:p.Glu737Gln		B2RCI2|D3DPE2|Q4G0Y6|Q53SJ3|Q53TA8|Q69YG8|Q86SP9|Q8N261|Q8N639|Q8N8K3|Q96MV6	Missense_Mutation	SNP	ENST00000392552.2	hg19	CCDS2259.1	.	.	.	.	.	.	.	.	.	.	C	10.74	1.434272	0.25813	.	.	ENSG00000163328	ENST00000392552;ENST00000510236;ENST00000392551;ENST00000295500	T;T;T	0.44083	0.93;0.93;0.93	5.59	5.59	0.84812	.	0.587930	0.19501	N	0.112740	T	0.37598	0.1009	L	0.38838	1.175	0.24898	N	0.992127	B;B	0.26258	0.145;0.003	B;B	0.27887	0.084;0.009	T	0.15752	-1.0426	10	0.18276	T	0.48	-0.5171	19.5907	0.95509	0.0:1.0:0.0:0.0	.	217;737	F5H464;Q7Z3F1	.;GP155_HUMAN	Q	737;217;737;737	ENSP00000376335:E737Q;ENSP00000376334:E737Q;ENSP00000295500:E737Q	ENSP00000295500:E737Q	E	-	1	0	GPR155	175012975	1.000000	0.71417	0.991000	0.47740	0.931000	0.56810	4.009000	0.57110	2.640000	0.89533	0.655000	0.94253	GAA		0.373	GPR155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255455.1	NM_152529		G	175304729	C	G	175304729	3	3	810	1	0	0	0	0	1	0	0	0	6662	922	32	4	411	4	GPR155	2	175304729	Missense_Mutation	SNP	C	TCGA-UZ-A9PZ-01A-11D-A42J-10	55083015	175304729	67894644	8	48516											
HSPD1	3329	hgsc.bcm.edu	37	2	198362107	198362108	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-UZ-A9PZ-01A-11D-A42J-10	TCGA-UZ-A9PZ-10A-01D-A42M-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d803a908-b844-4475-8169-a7139df2f89e	027f6901-bb89-4fb7-8e82-7dd1ba7fcaf3	g.chr2:198362107_198362108delCT	ENST00000388968.3	-	3	450_451	c.183_184delAG	c.(181-186)acagtgfs	p.V62fs	HSPD1_ENST00000345042.2_Frame_Shift_Del_p.V62fs|HSPD1_ENST00000544407.1_Frame_Shift_Del_p.V62fs|HSPE1_ENST00000409468.1_5'Flank|HSPE1_ENST00000409729.1_5'Flank|HSPE1_ENST00000233893.5_5'Flank	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	62					'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)			TCAATAATCACTGTTCTTCCCT	0.342																																																0																																										SO:0001589	frameshift_variant	3329			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.183_184delAG	chr2.hg19:g.198362107_198362108delCT	ENSP00000373620:p.Val62fs		B2R5M6|B7Z712|Q38L19|Q9UCR6	Frame_Shift_Del	DEL	ENST00000388968.3	hg19	CCDS33357.1																																																																																				0.342	HSPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335324.2	NM_002156		-	198362108	CT	-	198362107	7	5	810	1	0	1	0	1	0	0	0	0	7430	565	20	0	1577	0	HSPD1	2	198362107	Frame_Shift_Del	DEL	CT	TCGA-UZ-A9PZ-01A-11D-A42J-10	23057378	198362107	44837266	9	48517											
GIGYF2	26058	hgsc.bcm.edu	37	2	233612395	233612395	+	Silent	SNP	T	T	C			TCGA-UZ-A9PZ-01A-11D-A42J-10	TCGA-UZ-A9PZ-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d803a908-b844-4475-8169-a7139df2f89e	027f6901-bb89-4fb7-8e82-7dd1ba7fcaf3	g.chr2:233612395T>C	ENST00000409547.1	+	6	423	c.112T>C	c.(112-114)Tta>Cta	p.L38L	GIGYF2_ENST00000373563.4_Silent_p.L38L|GIGYF2_ENST00000409451.3_Silent_p.L38L|GIGYF2_ENST00000409196.3_Silent_p.L38L|GIGYF2_ENST00000409480.1_Silent_p.L38L|GIGYF2_ENST00000373566.3_Silent_p.L38L	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	38					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)		GAAGTATAAATTAGCAGATTA	0.398																																																0													124	123	123					2																	233612395		2203	4300	6503	SO:0001819	synonymous_variant	26058			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.112T>C	chr2.hg19:g.233612395T>C			A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Silent	SNP	ENST00000409547.1	hg19	CCDS33401.1																																																																																				0.398	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		C	233612395	T	C	233612395	2	2	810	1	0	0	0	0	0	0	0	1	6380	1490	52	3		3	GIGYF2	2	233612395	Silent	SNP	T	TCGA-UZ-A9PZ-01A-11D-A42J-10	35250288	233612395	9586978	10	48518											
OR6B2	389090	hgsc.bcm.edu	37	2	240969002	240969002	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9PZ-01A-11D-A42J-10	TCGA-UZ-A9PZ-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d803a908-b844-4475-8169-a7139df2f89e	027f6901-bb89-4fb7-8e82-7dd1ba7fcaf3	g.chr2:240969002G>A	ENST00000402971.2	-	1	904	c.845C>T	c.(844-846)aCg>aTg	p.T282M		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	282						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)		AATTATTGGCGTGACAACAGT	0.468																																																0													119	116	117					2																	240969002		1917	4130	6047	SO:0001583	missense	389090				CCDS46559.1	2q37.3	2012-08-09	2004-10-07	2004-10-07	ENSG00000182083	ENSG00000182083		"GPCR / Class A : Olfactory receptors"	15041	protein-coding gene	gene with protein product			"olfactory receptor, family 6, subfamily B, member 2 pseudogene"	OR6B2P			Standard	XM_005247004		Approved		uc010zoc.2	Q6IFH4	OTTHUMG00000152400	ENST00000402971.2:c.845C>T	chr2.hg19:g.240969002G>A	ENSP00000384563:p.Thr282Met		B2RPR3|Q8NGW0	Missense_Mutation	SNP	ENST00000402971.2	hg19	CCDS46559.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.581713	0.28180	.	.	ENSG00000182083	ENST00000402971	T	0.38401	1.14	4.36	3.48	0.39840	GPCR, rhodopsin-like superfamily (1);	0.135419	0.33075	N	0.005308	T	0.54615	0.1869	M	0.88906	2.99	0.29521	N	0.8535	P	0.52577	0.954	P	0.55391	0.775	T	0.58696	-0.7591	10	0.87932	D	0	.	7.0844	0.25249	0.2031:0.0:0.7969:0.0	.	282	Q6IFH4	OR6B2_HUMAN	M	282	ENSP00000384563:T282M	ENSP00000384563:T282M	T	-	2	0	OR6B2	240617675	0.008000	0.16893	0.457000	0.27056	0.032000	0.12392	1.620000	0.36976	1.174000	0.42811	-0.194000	0.12790	ACG		0.468	OR6B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326079.1	NM_001005853		A	240969002	G	A	240969002	3	1	810	1	0	0	0	0	1	0	0	0	11190	1145	40	1	95	1	OR6B2	2	240969002	Missense_Mutation	SNP	G	TCGA-UZ-A9PZ-01A-11D-A42J-10	7356607	240969002	2230371	11	48519											
LRPAP1	4043	hgsc.bcm.edu	37	4	3533995	3533995	+	Missense_Mutation	SNP	C	C	T	rs539416757		TCGA-UZ-A9PZ-01A-11D-A42J-10	TCGA-UZ-A9PZ-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d803a908-b844-4475-8169-a7139df2f89e	027f6901-bb89-4fb7-8e82-7dd1ba7fcaf3	g.chr4:3533995C>T	ENST00000500728.2	-	1	291	c.145G>A	c.(145-147)Gag>Aag	p.E49K	LRPAP1_ENST00000296325.5_5'Flank	NM_002337.3	NP_002328.1	P30533	AMRP_HUMAN	low density lipoprotein receptor-related protein associated protein 1	49					extracellular negative regulation of signal transduction (GO:1900116)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of protein binding (GO:0032091)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|protein folding (GO:0006457)|receptor-mediated endocytosis (GO:0006898)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|rough endoplasmic reticulum lumen (GO:0048237)|vesicle (GO:0031982)	asialoglycoprotein receptor activity (GO:0004873)|heparin binding (GO:0008201)|low-density lipoprotein particle receptor binding (GO:0050750)|receptor antagonist activity (GO:0048019)|unfolded protein binding (GO:0051082)|very-low-density lipoprotein particle receptor binding (GO:0070326)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)		TCTCCGGACTCGCGTTTCGGG	0.697													c|||	1	0.000199681	0.0	0.0014	5008	,	,		9728	0.0		0.0	False		,,,				2504	0.0															0													30	28	29					4																	3533995		2137	4234	6371	SO:0001583	missense	4043				CCDS3371.1	4p16.3	2008-05-02	2003-03-17		ENSG00000163956	ENSG00000163956			6701	protein-coding gene	gene with protein product		104225	"low density lipoprotein-related protein-associated protein 1 (alpha-2-macroglobulin receptor-associated protein 1)"	A2MRAP		1712782	Standard	NM_002337		Approved	HBP44	uc003ghh.4	P30533	OTTHUMG00000090299	ENST00000500728.2:c.145G>A	chr4.hg19:g.3533995C>T	ENSP00000421922:p.Glu49Lys		D3DVR9|Q2M310|Q53HQ3|Q53HS6	Missense_Mutation	SNP	ENST00000500728.2	hg19	CCDS3371.1	.	.	.	.	.	.	.	.	.	.	C	11.08	1.532771	0.27387	.	.	ENSG00000163956	ENST00000500728	T	0.43688	0.94	3.59	3.59	0.41128	Alpha-2-macroglobulin receptor-associated protein, domain 1 (1);	0.744185	0.12472	N	0.465930	T	0.35480	0.0933	L	0.46741	1.465	0.27557	N	0.950308	P	0.41008	0.735	B	0.38056	0.264	T	0.16158	-1.0412	10	0.38643	T	0.18	-15.3408	10.5987	0.45354	0.0:1.0:0.0:0.0	.	49	P30533	AMRP_HUMAN	K	49	ENSP00000421922:E49K	ENSP00000421922:E49K	E	-	1	0	LRPAP1	3503793	0.445000	0.25657	0.659000	0.29680	0.054000	0.15201	0.827000	0.27421	1.823000	0.53134	0.591000	0.81541	GAG		0.697	LRPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206659.4			T	3533995	C	T	3533995	3	4	810	1	0	0	0	0	1	0	0	0	8966	893	31	1	960	1	LRPAP1	4	3533995	Missense_Mutation	SNP	C	TCGA-UZ-A9PZ-01A-11D-A42J-10		3533995	187620281	12	48520											
LRRC66	339977	hgsc.bcm.edu	37	4	52861561	52861562	+	Missense_Mutation	DNP	CC	CC	TG			TCGA-UZ-A9PZ-01A-11D-A42J-10	TCGA-UZ-A9PZ-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d803a908-b844-4475-8169-a7139df2f89e	027f6901-bb89-4fb7-8e82-7dd1ba7fcaf3	g.chr4:52861561_52861562CC>TG	ENST00000343457.3	-	4	1632_1633	c.1626_1627GG>CA	c.(1624-1629)gtGGcc>gtCAcc	p.A543T		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	543						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						TCTTCCTGGGCCACAGTTTCAT	0.505																																																0																																										SO:0001583	missense	339977			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.1626_1627delinsTG	chr4.hg19:g.52861561_52861562delinsTG	ENSP00000341944:p.Ala543Thr			Missense_Mutation|Silent	SNP	ENST00000343457.3	hg19	CCDS43229.1																																																																																				0.505	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611		TG	52861562	CC	TG	52861561	3	4	810	1	0	0	0	0	1	0	0	0	9020	739	26	2	1019	2	LRRC66	4	52861561	Missense_Mutation	DNP	CC	TCGA-UZ-A9PZ-01A-11D-A42J-10	49327566	52861561	138292715	13	48521											
GRIA2	2891	hgsc.bcm.edu	37	4	158257702	158257702	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UZ-A9PZ-01A-11D-A42J-10	TCGA-UZ-A9PZ-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d803a908-b844-4475-8169-a7139df2f89e	027f6901-bb89-4fb7-8e82-7dd1ba7fcaf3	g.chr4:158257702C>A	ENST00000264426.9	+	11	1926	c.1647C>A	c.(1645-1647)tgC>tgA	p.C549*	GRIA2_ENST00000296526.7_Nonsense_Mutation_p.C549*|GRIA2_ENST00000393815.2_Nonsense_Mutation_p.C502*|GRIA2_ENST00000507898.1_Nonsense_Mutation_p.C502*|GRIA2_ENST00000449365.1_Nonsense_Mutation_p.C502*	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	549					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TCTGGATGTGCATTGTTTTTG	0.443																																																0													234	219	224					4																	158257702		2203	4300	6503	SO:0001587	stop_gained	2891				CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.1647C>A	chr4.hg19:g.158257702C>A	ENSP00000264426:p.Cys549*		A8MT92|I6L997|Q96FP6	Nonsense_Mutation	SNP	ENST00000264426.9	hg19	CCDS43274.1	.	.	.	.	.	.	.	.	.	.	C	39	7.595898	0.98381	.	.	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000296526;ENST00000264426;ENST00000449365	.	.	.	5.46	4.62	0.57501	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	14.5219	0.67856	0.0:0.9291:0.0:0.0709	.	.	.	.	X	502;502;549;549;502	.	ENSP00000264426:C549X	C	+	3	2	GRIA2	158477152	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.561000	0.45905	1.442000	0.47568	0.655000	0.94253	TGC		0.443	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			A	158257702	C	A	158257702	4	1	810	1	0	0	0	0	0	1	0	0	6770	718	25	4	1689	4	GRIA2	4	158257702	Nonsense_Mutation	SNP	C	TCGA-UZ-A9PZ-01A-11D-A42J-10	105396141	158257702	32896574	14	48522											
ODZ3	55714	hgsc.bcm.edu	37	4	183696133	183696133	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9PZ-01A-11D-A42J-10	TCGA-UZ-A9PZ-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d803a908-b844-4475-8169-a7139df2f89e	027f6901-bb89-4fb7-8e82-7dd1ba7fcaf3	g.chr4:183696133G>A	ENST00000511685.1	+	24	5254	c.5131G>A	c.(5131-5133)Ggc>Agc	p.G1711S	RP11-18D7.2_ENST00000513255.1_RNA|TENM3_ENST00000406950.2_Missense_Mutation_p.G1711S			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1711					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)										CTACGCCAGTGGCCTGGACTC	0.473																																																0													42	43	43					4																	183696133		1907	4124	6031	SO:0001583	missense	55714			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.5131G>A	chr4.hg19:g.183696133G>A	ENSP00000424226:p.Gly1711Ser		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	hg19	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.404306	0.83230	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.87966	-2.32;-2.32	4.77	4.77	0.60923	.	.	.	.	.	D	0.93706	0.7989	M	0.80847	2.515	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.94287	0.7525	9	0.72032	D	0.01	.	18.3535	0.90348	0.0:0.0:1.0:0.0	.	1711	Q9P273	TEN3_HUMAN	S	1711	ENSP00000424226:G1711S;ENSP00000385276:G1711S	ENSP00000385276:G1711S	G	+	1	0	ODZ3	183933127	1.000000	0.71417	0.835000	0.33067	0.392000	0.30506	9.601000	0.98297	2.627000	0.88993	0.650000	0.86243	GGC		0.473	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			A	183696133	G	A	183696133	3	1	810	1	0	0	0	0	1	0	0	0	10838	1348	47	2	5221	2	ODZ3	4	183696133	Missense_Mutation	SNP	G	TCGA-UZ-A9PZ-01A-11D-A42J-10	25438431	183696133	7458143	15	48523											
KIAA0947	23379	hgsc.bcm.edu	37	5	5465025	5465025	+	Missense_Mutation	SNP	A	A	T			TCGA-UZ-A9PZ-01A-11D-A42J-10	TCGA-UZ-A9PZ-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d803a908-b844-4475-8169-a7139df2f89e	027f6901-bb89-4fb7-8e82-7dd1ba7fcaf3	g.chr5:5465025A>T	ENST00000296564.7	+	13	5800	c.5578A>T	c.(5578-5580)Agg>Tgg	p.R1860W		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1860					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						ACCAGAAACCAGGGGAGTCAC	0.507																																																0													59	63	62					5																	5465025		1889	4124	6013	SO:0001583	missense	23379																														ENST00000296564.7:c.5578A>T	chr5.hg19:g.5465025A>T	ENSP00000296564:p.Arg1860Trp		Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	ENST00000296564.7	hg19	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	A	18.28	3.588195	0.66105	.	.	ENSG00000164151	ENST00000296564	T	0.10668	2.85	5.24	-3.67	0.04476	.	.	.	.	.	T	0.09818	0.0241	N	0.22421	0.69	0.09310	N	1	D	0.59767	0.986	P	0.55455	0.776	T	0.13522	-1.0506	9	0.66056	D	0.02	-0.8027	1.3306	0.02134	0.1867:0.3863:0.1747:0.2523	.	1860	Q9Y2F5	K0947_HUMAN	W	1860	ENSP00000296564:R1860W	ENSP00000296564:R1860W	R	+	1	2	KIAA0947	5518025	0.000000	0.05858	0.000000	0.03702	0.137000	0.21094	-0.142000	0.10311	-0.636000	0.05524	-0.644000	0.03951	AGG		0.507	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			T	5465025	A	T	5465025	3	4	810	1	0	0	0	0	1	0	0	0	8204	179	7	5	5628	5	KIAA0947	5	5465025	Missense_Mutation	SNP	A	TCGA-UZ-A9PZ-01A-11D-A42J-10		5465025	175450235	16	48524											
FAM173B	134145	hgsc.bcm.edu	37	5	10227716	10227716	+	Missense_Mutation	SNP	T	T	C			TCGA-UZ-A9PZ-01A-11D-A42J-10	TCGA-UZ-A9PZ-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d803a908-b844-4475-8169-a7139df2f89e	027f6901-bb89-4fb7-8e82-7dd1ba7fcaf3	g.chr5:10227716T>C	ENST00000511437.1	-	5	551	c.539A>G	c.(538-540)gAt>gGt	p.D180G	FAM173B_ENST00000510047.1_Missense_Mutation_p.D163G|FAM173B_ENST00000510052.1_5'UTR|FAM173B_ENST00000280330.8_Missense_Mutation_p.D16G	NM_199133.3	NP_954584.2	Q6P4H8	F173B_HUMAN	family with sequence similarity 173, member B	180						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						AACTCGTGCATCATCCTCAAG	0.488																																																0													117	111	112					5																	10227716		1974	4158	6132	SO:0001583	missense	134145				CCDS43301.1, CCDS58942.1	5p15.2	2008-08-08			ENSG00000150756	ENSG00000150756			27029	protein-coding gene	gene with protein product						12477932	Standard	NM_199133		Approved		uc003jeo.3	Q6P4H8	OTTHUMG00000161771	ENST00000511437.1:c.539A>G	chr5.hg19:g.10227716T>C	ENSP00000422338:p.Asp180Gly		B4DT41|B4DXK2|E9PBZ4	Missense_Mutation	SNP	ENST00000511437.1	hg19	CCDS43301.1	.	.	.	.	.	.	.	.	.	.	T	5.398	0.258646	0.10239	.	.	ENSG00000150756	ENST00000280330;ENST00000511437;ENST00000510047	T;T;T	0.16897	2.31;3.03;3.03	5.17	2.75	0.32379	.	0.481441	0.24198	N	0.040649	T	0.04907	0.0132	N	0.01809	-0.71	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.13407	0.004;0.009	T	0.40905	-0.9538	10	0.12430	T	0.62	-6.4801	4.8377	0.13473	0.0:0.1713:0.1582:0.6705	.	163;180	E9PBZ4;Q6P4H8	.;F173B_HUMAN	G	16;180;163	ENSP00000280330:D16G;ENSP00000422338:D180G;ENSP00000420876:D163G	ENSP00000280330:D16G	D	-	2	0	FAM173B	10280716	0.020000	0.18652	0.000000	0.03702	0.368000	0.29767	1.126000	0.31344	0.381000	0.24851	0.528000	0.53228	GAT		0.488	FAM173B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000366048.2	NM_199133		C	10227716	T	C	10227716	3	2	810	1	0	0	0	0	1	0	0	0	5496	1435	50	3	166	3	FAM173B	5	10227716	Missense_Mutation	SNP	T	TCGA-UZ-A9PZ-01A-11D-A42J-10	4762691	10227716	170687544	17	48525											
ZNF622	90441	hgsc.bcm.edu	37	5	16463842	16463842	+	Missense_Mutation	SNP	T	T	C			TCGA-UZ-A9PZ-01A-11D-A42J-10	TCGA-UZ-A9PZ-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d803a908-b844-4475-8169-a7139df2f89e	027f6901-bb89-4fb7-8e82-7dd1ba7fcaf3	g.chr5:16463842T>C	ENST00000308683.2	-	2	761	c.635A>G	c.(634-636)gAt>gGt	p.D212G		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	212	Glu-rich.				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						AGAATCAATATCTTCCCAATC	0.413																																																0													152	164	160					5																	16463842		2203	4300	6503	SO:0001583	missense	90441			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.635A>G	chr5.hg19:g.16463842T>C	ENSP00000310042:p.Asp212Gly			Missense_Mutation	SNP	ENST00000308683.2	hg19	CCDS3886.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.407580	0.83340	.	.	ENSG00000173545	ENST00000308683	.	.	.	5.18	5.18	0.71444	.	0.092716	0.64402	N	0.000001	T	0.61553	0.2356	M	0.78049	2.395	0.80722	D	1	P	0.48294	0.908	B	0.43754	0.43	T	0.63664	-0.6586	9	0.27082	T	0.32	-3.0532	15.3358	0.74250	0.0:0.0:0.0:1.0	.	212	Q969S3	ZN622_HUMAN	G	212	.	ENSP00000310042:D212G	D	-	2	0	ZNF622	16516842	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.193000	0.77780	2.068000	0.61886	0.459000	0.35465	GAT		0.413	ZNF622-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207105.1	NM_033414		C	16463842	T	C	16463842	3	2	810	1	0	0	0	0	1	0	0	0	18051	1435	50	3	818	3	ZNF622	5	16463842	Missense_Mutation	SNP	T	TCGA-UZ-A9PZ-01A-11D-A42J-10	6236126	16463842	164451418	18	48526											
RXFP3	51289	hgsc.bcm.edu	37	5	33937725	33937725	+	Missense_Mutation	SNP	A	A	T			TCGA-UZ-A9PZ-01A-11D-A42J-10	TCGA-UZ-A9PZ-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d803a908-b844-4475-8169-a7139df2f89e	027f6901-bb89-4fb7-8e82-7dd1ba7fcaf3	g.chr5:33937725A>T	ENST00000330120.3	+	1	1235	c.880A>T	c.(880-882)Atc>Ttc	p.I294F		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	294					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|G-protein coupled receptor activity (GO:0004930)			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						GGTGCGCTTCATCGCCGACCG	0.672																																																0													33	25	28					5																	33937725		2190	4272	6462	SO:0001583	missense	51289			D88437	CCDS3900.1	5p15.1-p14	2012-08-08	2006-05-09	2006-03-15	ENSG00000182631	ENSG00000182631		"GPCR / Class A : Relaxin family peptide receptors"	24883	protein-coding gene	gene with protein product		609445	"relaxin 3 receptor 1", "relaxin family peptide receptor 3"	RLN3R1		15956688, 16507880	Standard	NM_016568		Approved	SALPR, GPCR135, RXFPR3	uc003jic.2	Q9NSD7	OTTHUMG00000090685	ENST00000330120.3:c.880A>T	chr5.hg19:g.33937725A>T	ENSP00000328708:p.Ile294Phe		Q14DA5	Missense_Mutation	SNP	ENST00000330120.3	hg19	CCDS3900.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.991457	0.74703	.	.	ENSG00000182631	ENST00000330120	T	0.41758	0.99	5.74	4.55	0.56014	GPCR, rhodopsin-like superfamily (1);	0.108059	0.64402	D	0.000008	T	0.63343	0.2503	M	0.78285	2.405	0.48632	D	0.999689	D	0.63046	0.992	D	0.68483	0.958	T	0.66352	-0.5945	10	0.62326	D	0.03	-23.9733	12.8323	0.57752	0.8636:0.1364:0.0:0.0	.	294	Q9NSD7	RL3R1_HUMAN	F	294	ENSP00000328708:I294F	ENSP00000328708:I294F	I	+	1	0	RXFP3	33973482	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.969000	0.40510	0.944000	0.37579	0.533000	0.62120	ATC		0.672	RXFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207369.1	NM_016568		T	33937725	A	T	33937725	3	4	810	1	0	0	0	0	1	0	0	0	13767	217	8	5	882	5	RXFP3	5	33937725	Missense_Mutation	SNP	A	TCGA-UZ-A9PZ-01A-11D-A42J-10	17473883	33937725	146977535	19	48527											
RASA1	5921	hgsc.bcm.edu	37	5	86659213	86659213	+	Missense_Mutation	SNP	A	A	G			TCGA-UZ-A9PZ-01A-11D-A42J-10	TCGA-UZ-A9PZ-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d803a908-b844-4475-8169-a7139df2f89e	027f6901-bb89-4fb7-8e82-7dd1ba7fcaf3	g.chr5:86659213A>G	ENST00000274376.6	+	11	2066	c.1502A>G	c.(1501-1503)gAt>gGt	p.D501G	RASA1_ENST00000506290.1_Missense_Mutation_p.D335G|RASA1_ENST00000512763.1_Missense_Mutation_p.D334G|RASA1_ENST00000456692.2_Missense_Mutation_p.D324G	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	501	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)		GAGGGTAGTGATGCCCAACTT	0.318																																																0													76	77	77					5																	86659213		2203	4300	6503	SO:0001583	missense	5921				CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	9871	protein-coding gene	gene with protein product	"capillary malformation-arteriovenous malformation"	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.1502A>G	chr5.hg19:g.86659213A>G	ENSP00000274376:p.Asp501Gly		B2R6W3|Q9UDI1	Missense_Mutation	SNP	ENST00000274376.6	hg19	CCDS34200.1	.	.	.	.	.	.	.	.	.	.	A	26.7	4.763741	0.89932	.	.	ENSG00000145715	ENST00000274376;ENST00000534133;ENST00000456692;ENST00000512763;ENST00000506290	T;T;T;T	0.12255	2.7;2.7;2.7;2.7	5.58	5.58	0.84498	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.31827	0.0809	L	0.49571	1.57	0.80722	D	1	D;D;D;D;D	0.67145	0.996;0.996;0.996;0.995;0.992	D;D;D;D;D	0.69479	0.964;0.935;0.964;0.939;0.947	T	0.01858	-1.1259	10	0.72032	D	0.01	.	15.754	0.78011	1.0:0.0:0.0:0.0	.	335;334;335;324;501	E9PGC0;B4DTL2;B4DTX4;P20936-2;P20936	.;.;.;.;RASA1_HUMAN	G	501;534;324;334;335	ENSP00000274376:D501G;ENSP00000411221:D324G;ENSP00000422008:D334G;ENSP00000420905:D335G	ENSP00000274376:D501G	D	+	2	0	RASA1	86694969	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.305000	0.96197	2.118000	0.64928	0.383000	0.25322	GAT		0.318	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1	NM_002890		G	86659213	A	G	86659213	3	3	810	1	0	0	0	0	1	0	0	0	13066	333	12	3	1556	3	RASA1	5	86659213	Missense_Mutation	SNP	A	TCGA-UZ-A9PZ-01A-11D-A42J-10	52721488	86659213	94256047	20	48528											
DST	667	hgsc.bcm.edu	37	6	56464935	56464935	+	Missense_Mutation	SNP	C	C	G			TCGA-UZ-A9PZ-01A-11D-A42J-10	TCGA-UZ-A9PZ-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d803a908-b844-4475-8169-a7139df2f89e	027f6901-bb89-4fb7-8e82-7dd1ba7fcaf3	g.chr6:56464935C>G	ENST00000361203.3	-	41	11000	c.10993G>C	c.(10993-10995)Ggt>Cgt	p.G3665R	DST_ENST00000421834.2_Missense_Mutation_p.G1579R|DST_ENST00000244364.6_Missense_Mutation_p.G1253R|DST_ENST00000370788.2_Missense_Mutation_p.G1579R|DST_ENST00000370769.4_Missense_Mutation_p.G3667R|DST_ENST00000446842.2_Missense_Mutation_p.G3341R|DST_ENST00000370754.5_Missense_Mutation_p.G3845R|DST_ENST00000312431.6_Missense_Mutation_p.G3665R			Q03001	DYST_HUMAN	dystonin	3665					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)			TCTTGGTGACCAATTAGGCGG	0.403																																																0													168	156	160					6																	56464935		1847	4102	5949	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.10993G>C	chr6.hg19:g.56464935C>G	ENSP00000354508:p.Gly3665Arg		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	hg19		.	.	.	.	.	.	.	.	.	.	C	17.41	3.383400	0.61845	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73	6.05	5.17	0.71159	.	0.113109	0.39341	N	0.001390	T	0.48624	0.1510	L	0.50333	1.59	0.29604	N	0.847445	D;D;D;D;B	0.69078	0.974;0.997;0.997;0.976;0.439	P;D;D;P;B	0.71184	0.726;0.972;0.972;0.788;0.209	T	0.46871	-0.9160	9	0.21540	T	0.41	.	14.4473	0.67359	0.0:0.9289:0.0:0.0711	.	1579;3667;3845;3665;1253	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	R	1253;3845;3667;1579;3341;3665;1579;3665	ENSP00000244364:G1253R;ENSP00000359790:G3845R;ENSP00000359805:G3667R;ENSP00000400883:G1579R;ENSP00000393645:G3341R;ENSP00000307959:G3665R;ENSP00000359824:G1579R;ENSP00000354508:G3665R	ENSP00000244364:G1253R	G	-	1	0	DST	56572894	0.999000	0.42202	0.887000	0.34795	0.994000	0.84299	4.339000	0.59322	1.543000	0.49345	0.650000	0.86243	GGT		0.403	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		G	56464935	C	G	56464935	3	3	810	1	0	0	0	0	1	0	0	0	4785	594	21	4	11994	4	DST	6	56464935	Missense_Mutation	SNP	C	TCGA-UZ-A9PZ-01A-11D-A42J-10		56464935	114650132	21	48529											
ZBTB24	9841	hgsc.bcm.edu	37	6	109796655	109796655	+	Missense_Mutation	SNP	T	T	G	rs548726702		TCGA-UZ-A9PZ-01A-11D-A42J-10	TCGA-UZ-A9PZ-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d803a908-b844-4475-8169-a7139df2f89e	027f6901-bb89-4fb7-8e82-7dd1ba7fcaf3	g.chr6:109796655T>G	ENST00000230122.3	-	5	1402	c.1235A>C	c.(1234-1236)cAt>cCt	p.H412P		NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	412					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)		GAATTTGCGATGGCAGTCTTT	0.453																																																0													214	175	188					6																	109796655		2203	4300	6503	SO:0001583	missense	9841			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.1235A>C	chr6.hg19:g.109796655T>G	ENSP00000230122:p.His412Pro		Q17RC6|Q5TED5|Q8N455	Missense_Mutation	SNP	ENST00000230122.3	hg19	CCDS34509.1	.	.	.	.	.	.	.	.	.	.	T	18.54	3.645420	0.67358	.	.	ENSG00000112365	ENST00000230122	T	0.07327	3.2	6.17	3.82	0.43975	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.047154	0.85682	D	0.000000	T	0.01765	0.0056	N	0.03948	-0.315	0.41015	D	0.985037	B	0.31009	0.303	B	0.34038	0.174	T	0.49707	-0.8911	10	0.72032	D	0.01	-13.7104	11.4813	0.50326	0.0:0.1436:0.0:0.8564	.	412	O43167	ZBT24_HUMAN	P	412	ENSP00000230122:H412P	ENSP00000230122:H412P	H	-	2	0	ZBTB24	109903348	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	2.512000	0.45485	0.579000	0.29504	0.533000	0.62120	CAT		0.453	ZBTB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041758.1	NM_014797		G	109796655	T	G	109796655	3	3	810	1	0	0	0	0	1	0	0	0	17536	1464	51	5	870	5	ZBTB24	6	109796655	Missense_Mutation	SNP	T	TCGA-UZ-A9PZ-01A-11D-A42J-10	53331720	109796655	61318412	22	48530											
IGF2BP3	10643	hgsc.bcm.edu	37	7	23357270	23357270	+	Missense_Mutation	SNP	C	C	A			TCGA-UZ-A9PZ-01A-11D-A42J-10	TCGA-UZ-A9PZ-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d803a908-b844-4475-8169-a7139df2f89e	027f6901-bb89-4fb7-8e82-7dd1ba7fcaf3	g.chr7:23357270C>A	ENST00000258729.3	-	12	1739	c.1383G>T	c.(1381-1383)gaG>gaT	p.E461D		NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	461	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|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						TGAACTGAGCCTCTGGTGGTC	0.448																																																0													246	192	210					7																	23357270		2203	4300	6503	SO:0001583	missense	10643			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.1383G>T	chr7.hg19:g.23357270C>A	ENSP00000258729:p.Glu461Asp		A0A4Z5|Q63HM0|Q6MZZ2|Q86VB1	Missense_Mutation	SNP	ENST00000258729.3	hg19	CCDS5382.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.931823	0.73442	.	.	ENSG00000136231	ENST00000258729	T	0.35236	1.32	5.52	4.62	0.57501	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.33440	0.0863	L	0.37800	1.135	0.80722	D	1	B	0.32160	0.358	B	0.42625	0.393	T	0.05582	-1.0876	10	0.25751	T	0.34	-21.5421	9.7329	0.40372	0.0:0.8035:0.0:0.1965	.	461	O00425	IF2B3_HUMAN	D	461	ENSP00000258729:E461D	ENSP00000258729:E461D	E	-	3	2	IGF2BP3	23323795	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.113000	0.31184	2.767000	0.95098	0.655000	0.94253	GAG		0.448	IGF2BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250243.2	NM_006547		A	23357270	C	A	23357270	3	1	810	1	0	0	0	0	1	0	0	0	7577	680	24	4	372	4	IGF2BP3	7	23357270	Missense_Mutation	SNP	C	TCGA-UZ-A9PZ-01A-11D-A42J-10		23357270	135781393	23	48531											
AQP1	358	hgsc.bcm.edu	37	7	30963176	30963176	+	Missense_Mutation	SNP	G	G	A	rs149637560		TCGA-UZ-A9PZ-01A-11D-A42J-10	TCGA-UZ-A9PZ-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d803a908-b844-4475-8169-a7139df2f89e	027f6901-bb89-4fb7-8e82-7dd1ba7fcaf3	g.chr7:30963176G>A	ENST00000311813.4	+	4	797	c.742G>A	c.(742-744)Ggc>Agc	p.G248S	AQP1_ENST00000409611.1_Missense_Mutation_p.G197S|AQP1_ENST00000409899.1_Missense_Mutation_p.G133S|AQP1_ENST00000434909.2_Missense_Mutation_p.G308S|AQP1_ENST00000509504.1_Missense_Mutation_p.G425S|AQP1_ENST00000441328.2_Missense_Mutation_p.G165S|AQP1_ENST00000482461.1_3'UTR	NM_198098.2	NP_932766.1	P29972	AQP1_HUMAN	aquaporin 1 (Colton blood group)	248					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|bicarbonate transport (GO:0015701)|camera-type eye morphogenesis (GO:0048593)|carbon dioxide transmembrane transport (GO:0035378)|carbon dioxide transport (GO:0015670)|cation transmembrane transport (GO:0098655)|cell volume homeostasis (GO:0006884)|cellular homeostasis (GO:0019725)|cellular hyperosmotic response (GO:0071474)|cellular response to cAMP (GO:0071320)|cellular response to copper ion (GO:0071280)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to inorganic substance (GO:0071241)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mercury ion (GO:0071288)|cellular response to nitric oxide (GO:0071732)|cellular response to retinoic acid (GO:0071300)|cellular response to salt stress (GO:0071472)|cellular response to stress (GO:0033554)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|cGMP biosynthetic process (GO:0006182)|corticotropin secretion (GO:0051458)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|glomerular filtration (GO:0003094)|glycerol transport (GO:0015793)|hyperosmotic salinity response (GO:0042538)|lateral ventricle development (GO:0021670)|lipid digestion (GO:0044241)|maintenance of symbiont-containing vacuole by host (GO:0085018)|metanephric descending thin limb development (GO:0072220)|metanephric glomerulus vasculature development (GO:0072239)|metanephric proximal convoluted tubule segment 2 development (GO:0072232)|metanephric proximal straight tubule development (GO:0072230)|multicellular organismal water homeostasis (GO:0050891)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|nitric oxide transport (GO:0030185)|odontogenesis (GO:0042476)|pancreatic juice secretion (GO:0030157)|positive regulation of angiogenesis (GO:0045766)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of saliva secretion (GO:0046878)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|renal water absorption (GO:0070295)|renal water transport (GO:0003097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|secretory granule organization (GO:0033363)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)|transepithelial water transport (GO:0035377)|transmembrane transport (GO:0055085)|water transport (GO:0006833)|wound healing (GO:0042060)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|axon terminus (GO:0043679)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|symbiont-containing vacuole (GO:0020003)	ammonium transmembrane transporter activity (GO:0008519)|carbon dioxide transmembrane transporter activity (GO:0035379)|glycerol transmembrane transporter activity (GO:0015168)|intracellular cGMP activated cation channel activity (GO:0005223)|nitric oxide transmembrane transporter activity (GO:0030184)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)|transmembrane transporter activity (GO:0022857)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			kidney(1)|large_intestine(2)|lung(9)	12		Melanoma(862;0.16)			Acetazolamide(DB00819)	GTGGACCAGCGGCCAGGTGGA	0.622																																																0								G	SER/GLY,SER/GLY,SER/GLY,SER/GLY	0,4406		0,0,2203	51	43	46		493,589,397,742	5.1	1	7	dbSNP_134	46	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	AQP1	NM_001185060.1,NM_001185061.1,NM_001185062.1,NM_198098.2	56,56,56,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	165/187,197/219,133/155,248/270	30963176	1,13005	2203	4300	6503	SO:0001583	missense	358			M77829	CCDS5431.1, CCDS55096.1, CCDS55097.1, CCDS55098.1	7p14	2014-07-19	2014-01-02		ENSG00000240583	ENSG00000240583		"Ion channels / Aquaporins", "Blood group antigens"	633	protein-coding gene	gene with protein product		107776	"Colton blood group", "aquaporin 1 (channel-forming integral protein, 28kDa)", "aquaporin 1 (channel-forming integral protein, 28kDa, CO blood group)", "aquaporin 1"	CO		1722319, 3166547	Standard	NM_198098		Approved	CHIP28		P29972	OTTHUMG00000023944	ENST00000311813.4:c.742G>A	chr7.hg19:g.30963176G>A	ENSP00000311165:p.Gly248Ser		B5BU39|E7EM69|E9PC21|F5GY19|Q8TBI5|Q8TDC1	Missense_Mutation	SNP	ENST00000311813.4	hg19	CCDS5431.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.419918	0.83559	0.0	1.16E-4	ENSG00000240583;ENSG00000240583;ENSG00000240583;ENSG00000240583;ENSG00000240583;ENSG00000240583;ENSG00000240583;ENSG00000250424	ENST00000434909;ENST00000265298;ENST00000311813;ENST00000413400;ENST00000441328;ENST00000409899;ENST00000409611;ENST00000509504	D;D;D;D;D;D	0.93953	-2.27;-1.97;-2.93;-3.32;-2.95;-2.27	5.07	5.07	0.68467	.	0.050340	0.85682	N	0.000000	D	0.95589	0.8566	L	0.61218	1.895	0.51233	D	0.99991	P;D;D;D	0.89917	0.774;1.0;1.0;1.0	B;D;D;D	0.91635	0.099;0.999;0.998;0.999	D	0.94980	0.8125	10	0.42905	T	0.14	0.8519	13.9555	0.64144	0.0:0.0:1.0:0.0	.	308;197;133;248	B4E220;E7EM69;E9PC21;P29972	.;.;.;AQP1_HUMAN	S	308;153;248;233;165;133;197;425	ENSP00000395059:G308S;ENSP00000311165:G248S;ENSP00000405698:G165S;ENSP00000386712:G133S;ENSP00000387178:G197S;ENSP00000421315:G425S	ENSP00000265298:G153S	G	+	1	0	RP5-877J2.1;AQP1	30929701	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.861000	0.75478	2.345000	0.79718	0.549000	0.68633	GGC		0.622	AQP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215002.3	NM_000385		A	30963176	G	A	30963176	3	1	810	1	0	0	0	0	1	0	0	0	821	1116	39	1	1013	1	AQP1	7	30963176	Missense_Mutation	SNP	G	TCGA-UZ-A9PZ-01A-11D-A42J-10	7605906	30963176	128175487	24	48532											
SLC25A13	10165	hgsc.bcm.edu	37	7	95750615	95750615	+	Frame_Shift_Del	DEL	C	C	-			TCGA-UZ-A9PZ-01A-11D-A42J-10	TCGA-UZ-A9PZ-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d803a908-b844-4475-8169-a7139df2f89e	027f6901-bb89-4fb7-8e82-7dd1ba7fcaf3	g.chr7:95750615delC	ENST00000265631.5	-	18	2052	c.1916delG	c.(1915-1917)ggcfs	p.G639fs	SLC25A13_ENST00000416240.2_Frame_Shift_Del_p.G640fs|SLC25A13_ENST00000542654.1_Frame_Shift_Del_p.G531fs|SLC25A13_ENST00000494085.1_5'UTR			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	639					aspartate transport (GO:0015810)|ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular respiration (GO:0045333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|transporter activity (GO:0005215)			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	CAGTTTGTAGCCCCCAACGTG	0.448																																																0													87	84	85					7																	95750615		2203	4300	6503	SO:0001589	frameshift_variant	10165			AF118838	CCDS5645.1, CCDS55130.1	7q21.3	2013-05-22	2012-03-29		ENSG00000004864	ENSG00000004864		"Solute carriers", "EF-hand domain containing"	10983	protein-coding gene	gene with protein product	"mitochondrial aspartate glutamate carrier 2"	603859	"solute carrier family 25, member 13 (citrin)"	CTLN2		10369257	Standard	NM_014251		Approved	CITRIN, ARALAR2	uc003uog.4	Q9UJS0	OTTHUMG00000023074	ENST00000265631.5:c.1916delG	chr7.hg19:g.95750615delC	ENSP00000265631:p.Gly639fs		O14566|O14575|Q546F9|Q9NZW1|Q9UNI7	Frame_Shift_Del	DEL	ENST00000265631.5	hg19	CCDS5645.1																																																																																				0.448	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059395.2	NM_014251		-	95750615	C	-	95750615	7	5	810	1	0	1	0	1	0	0	0	0	14481	739	26	0	115	0	SLC25A13	7	95750615	Frame_Shift_Del	DEL	C	TCGA-UZ-A9PZ-01A-11D-A42J-10	64787439	95750615	63388048	25	48533											
C8orf74	203076	hgsc.bcm.edu	37	8	10555296	10555296	+	Silent	SNP	G	G	A			TCGA-UZ-A9PZ-01A-11D-A42J-10	TCGA-UZ-A9PZ-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d803a908-b844-4475-8169-a7139df2f89e	027f6901-bb89-4fb7-8e82-7dd1ba7fcaf3	g.chr8:10555296G>A	ENST00000304519.5	+	3	458	c.429G>A	c.(427-429)gaG>gaA	p.E143E	RP1L1_ENST00000329335.3_Intron	NM_001040032.1	NP_001035121	Q6P047	CH074_HUMAN	chromosome 8 open reading frame 74	143										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		CCCACCTGGAGGTGTGCATGC	0.627																																																0													125	129	128					8																	10555296		2143	4230	6373	SO:0001819	synonymous_variant	203076			BC038534	CCDS47800.1	8p23.1	2012-04-17			ENSG00000171060	ENSG00000171060			32296	protein-coding gene	gene with protein product							Standard	NM_001040032		Approved		uc003wtd.1	Q6P047	OTTHUMG00000163807	ENST00000304519.5:c.429G>A	chr8.hg19:g.10555296G>A			A2RUD6	Silent	SNP	ENST00000304519.5	hg19	CCDS47800.1																																																																																				0.627	C8orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375675.1	NM_001040032		A	10555296	G	A	10555296	2	1	810	1	0	0	0	0	0	0	0	1	2438	991	35	2		2	C8orf74	8	10555296	Silent	SNP	G	TCGA-UZ-A9PZ-01A-11D-A42J-10		10555296	135808726	26	48534											
SLC7A2	6542	hgsc.bcm.edu	37	8	17409383	17409383	+	Missense_Mutation	SNP	C	C	T			TCGA-UZ-A9PZ-01A-11D-A42J-10	TCGA-UZ-A9PZ-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d803a908-b844-4475-8169-a7139df2f89e	027f6901-bb89-4fb7-8e82-7dd1ba7fcaf3	g.chr8:17409383C>T	ENST00000494857.1	+	7	1161	c.943C>T	c.(943-945)Ccg>Tcg	p.P315S	SLC7A2_ENST00000004531.10_Missense_Mutation_p.P355S|SLC7A2_ENST00000522656.1_Missense_Mutation_p.P315S|SLC7A2_ENST00000398090.3_Missense_Mutation_p.P355S|SLC7A2_ENST00000470360.1_Missense_Mutation_p.P355S	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	315					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|macrophage activation (GO:0042116)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide production involved in inflammatory response (GO:0002537)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	basic amino acid transmembrane transporter activity (GO:0015174)|high-affinity arginine transmembrane transporter activity (GO:0005289)|L-lysine transmembrane transporter activity (GO:0015189)|L-ornithine transmembrane transporter activity (GO:0000064)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	ACTTATGATGCCGTACTACCT	0.483																																																0													220	203	208					8																	17409383		2203	4300	6503	SO:0001583	missense	6542			D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989		"Solute carriers"	11060	protein-coding gene	gene with protein product		601872		ATRC2		8954799	Standard	NM_001164771		Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000494857.1:c.943C>T	chr8.hg19:g.17409383C>T	ENSP00000419140:p.Pro315Ser		B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Missense_Mutation	SNP	ENST00000494857.1	hg19	CCDS34852.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.660463	0.88154	.	.	ENSG00000003989	ENST00000494857;ENST00000522656;ENST00000470360;ENST00000004531;ENST00000398090	D;D;D;D;D	0.91843	-2.92;-2.92;-2.92;-2.92;-2.92	5.4	5.4	0.78164	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.96466	0.8847	M	0.82433	2.59	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.994;0.998;0.999	D	0.96575	0.9426	10	0.72032	D	0.01	.	19.5642	0.95386	0.0:1.0:0.0:0.0	.	355;355;315	P52569-3;P52569-2;P52569	.;.;CTR2_HUMAN	S	315;315;355;355;355	ENSP00000419140:P315S;ENSP00000430464:P315S;ENSP00000419873:P355S;ENSP00000004531:P355S;ENSP00000381164:P355S	ENSP00000004531:P355S	P	+	1	0	SLC7A2	17453761	1.000000	0.71417	0.999000	0.59377	0.723000	0.41478	7.818000	0.86416	2.702000	0.92279	0.655000	0.94253	CCG		0.483	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253367.3	NM_003046		T	17409383	C	T	17409383	3	4	810	1	0	0	0	0	1	0	0	0	14703	739	26	2	1085	2	SLC7A2	8	17409383	Missense_Mutation	SNP	C	TCGA-UZ-A9PZ-01A-11D-A42J-10	6854087	17409383	128954639	27	48535											
PEX2	5828	hgsc.bcm.edu	37	8	77896129	77896129	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UZ-A9PZ-01A-11D-A42J-10	TCGA-UZ-A9PZ-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d803a908-b844-4475-8169-a7139df2f89e	027f6901-bb89-4fb7-8e82-7dd1ba7fcaf3	g.chr8:77896129G>A	ENST00000419564.2	-	4	750	c.286C>T	c.(286-288)Cag>Tag	p.Q96*	PEX2_ENST00000357039.4_Nonsense_Mutation_p.Q96*|PEX2_ENST00000522527.1_Nonsense_Mutation_p.Q96*|PEX2_ENST00000520103.1_Nonsense_Mutation_p.Q96*	NM_001172087.1	NP_001165558.1	P28328	PEX2_HUMAN	peroxisomal biogenesis factor 2	96					bile acid biosynthetic process (GO:0006699)|cholesterol homeostasis (GO:0042632)|fatty acid beta-oxidation (GO:0006635)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|peroxisome organization (GO:0007031)|protein destabilization (GO:0031648)|protein import into peroxisome matrix (GO:0016558)|regulation of cholesterol biosynthetic process (GO:0045540)|very long-chain fatty acid metabolic process (GO:0000038)	Cdc73/Paf1 complex (GO:0016593)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	14						CTGGGTGGCTGATATCTCAGG	0.373																																																0													48	47	47					8																	77896129		2203	4300	6503	SO:0001587	stop_gained	5828			M86852	CCDS6221.1	8q21.11	2010-02-09	2010-01-25	2010-01-25		ENSG00000164751		"RING-type (C3HC4) zinc fingers"	9717	protein-coding gene	gene with protein product	"Zellweger syndrome", "peroxin 2"	170993	"peroxisomal membrane protein 3 (35kD, Zellweger syndrome)", "peroxisomal membrane protein 3, 35kDa"	PXMP3		1546315, 8858157	Standard	NM_000318		Approved	PMP35, PAF-1, RNF72, ZWS3	uc022awf.1	P28328		ENST00000419564.2:c.286C>T	chr8.hg19:g.77896129G>A	ENSP00000400984:p.Gln96*		Q567S6|Q9BW41	Nonsense_Mutation	SNP	ENST00000419564.2	hg19	CCDS6221.1	.	.	.	.	.	.	.	.	.	.	G	37	6.549895	0.97654	.	.	ENSG00000164751	ENST00000357039;ENST00000419564;ENST00000520103;ENST00000522527;ENST00000518986	.	.	.	5.04	5.04	0.67666	.	0.183165	0.46442	D	0.000298	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-1.9694	13.5869	0.61937	0.0:0.0:0.8448:0.1552	.	.	.	.	X	96	.	ENSP00000349543:Q96X	Q	-	1	0	PEX2	78058684	1.000000	0.71417	0.304000	0.25085	0.816000	0.46133	3.661000	0.54503	2.625000	0.88918	0.558000	0.71614	CAG		0.373	PEX2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379122.1	NM_000318		A	77896129	G	A	77896129	4	1	810	1	0	0	0	0	0	1	0	0	11747	1299	45	2	635	2	PEX2	8	77896129	Nonsense_Mutation	SNP	G	TCGA-UZ-A9PZ-01A-11D-A42J-10	60486746	77896129	68467893	28	48536											
PHF2	5253	hgsc.bcm.edu	37	9	96435951	96435951	+	Silent	SNP	G	G	C			TCGA-UZ-A9PZ-01A-11D-A42J-10	TCGA-UZ-A9PZ-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d803a908-b844-4475-8169-a7139df2f89e	027f6901-bb89-4fb7-8e82-7dd1ba7fcaf3	g.chr9:96435951G>C	ENST00000359246.4	+	18	2800	c.2433G>C	c.(2431-2433)ctG>ctC	p.L811L	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	811					liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		ACTCCTGCCTGCAGACCACGT	0.667																																																0													34	37	36					9																	96435951		2203	4300	6503	SO:0001819	synonymous_variant	5253			AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	8920	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1E", "centromere protein 35"	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.2433G>C	chr9.hg19:g.96435951G>C			Q4VXG0|Q8N3K2|Q9Y6N4	Silent	SNP	ENST00000359246.4	hg19	CCDS35069.1																																																																																				0.667	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053162.1	NM_005392		C	96435951	G	C	96435951	2	2	810	1	0	0	0	0	0	0	0	1	11832	1306	46	4		4	PHF2	9	96435951	Silent	SNP	G	TCGA-UZ-A9PZ-01A-11D-A42J-10		96435951	44777480	29	48537											
CUBN	8029	hgsc.bcm.edu	37	10	16941122	16941122	+	Missense_Mutation	SNP	T	T	C	rs141773881		TCGA-UZ-A9PZ-01A-11D-A42J-10	TCGA-UZ-A9PZ-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d803a908-b844-4475-8169-a7139df2f89e	027f6901-bb89-4fb7-8e82-7dd1ba7fcaf3	g.chr10:16941122T>C	ENST00000377833.4	-	54	8536	c.8471A>G	c.(8470-8472)aAt>aGt	p.N2824S		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2824	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)	TTCGGGAAAATTCTGAGGCCA	0.428																																																0								T	SER/ASN	0,4406		0,0,2203	140	131	134		8471	1.6	0.7	10	dbSNP_134	134	1,8599	1.2+/-3.3	0,1,4299	no	missense	CUBN	NM_001081.3	46	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	possibly-damaging	2824/3624	16941122	1,13005	2203	4300	6503	SO:0001583	missense	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.8471A>G	chr10.hg19:g.16941122T>C	ENSP00000367064:p.Asn2824Ser		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	hg19	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	T	10.93	1.490599	0.26686	0.0	1.16E-4	ENSG00000107611	ENST00000377833	T	0.28666	1.6	5.63	1.6	0.23607	CUB (5);	0.653650	0.13545	N	0.379921	T	0.33789	0.0875	L	0.53729	1.69	0.80722	D	1	P	0.41366	0.747	B	0.43386	0.418	T	0.17992	-1.0351	10	0.45353	T	0.12	.	13.0134	0.58743	0.0:0.0:0.3986:0.6014	.	2824	O60494	CUBN_HUMAN	S	2824	ENSP00000367064:N2824S	ENSP00000367064:N2824S	N	-	2	0	CUBN	16981128	1.000000	0.71417	0.713000	0.30519	0.079000	0.17450	3.883000	0.56168	0.452000	0.26830	0.459000	0.35465	AAT		0.428	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		C	16941122	T	C	16941122	3	2	810	1	0	0	0	0	1	0	0	0	4053	1493	52	3	2456	3	CUBN	10	16941122	Missense_Mutation	SNP	T	TCGA-UZ-A9PZ-01A-11D-A42J-10		16941122	118593625	30	48538											
NLRP14	338323	hgsc.bcm.edu	37	11	7064285	7064285	+	Missense_Mutation	SNP	T	T	A			TCGA-UZ-A9PZ-01A-11D-A42J-10	TCGA-UZ-A9PZ-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d803a908-b844-4475-8169-a7139df2f89e	027f6901-bb89-4fb7-8e82-7dd1ba7fcaf3	g.chr11:7064285T>A	ENST00000299481.4	+	4	1374	c.1028T>A	c.(1027-1029)tTt>tAt	p.F343Y		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	343	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TACCAGTTTTTTGAAGATAAG	0.418																																																0													93	98	96					11																	7064285		2201	4296	6497	SO:0001583	missense	338323			BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"Nucleotide-binding domain and leucine rich repeat containing"	22939	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"	609665	"NACHT, leucine rich repeat and PYD containing 14"	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.1028T>A	chr11.hg19:g.7064285T>A	ENSP00000299481:p.Phe343Tyr		Q7RTR6	Missense_Mutation	SNP	ENST00000299481.4	hg19	CCDS7776.1	.	.	.	.	.	.	.	.	.	.	T	16.50	3.140789	0.56936	.	.	ENSG00000158077	ENST00000299481	T	0.81330	-1.48	4.51	3.34	0.38264	NACHT nucleoside triphosphatase (1);	0.272209	0.26840	N	0.022228	D	0.88905	0.6564	M	0.86740	2.835	0.27111	N	0.962373	D	0.76494	0.999	D	0.69824	0.966	T	0.81604	-0.0857	10	0.62326	D	0.03	.	9.4923	0.38967	0.0:0.0:0.1784:0.8216	.	343	Q86W24	NAL14_HUMAN	Y	343	ENSP00000299481:F343Y	ENSP00000299481:F343Y	F	+	2	0	NLRP14	7020861	0.997000	0.39634	0.149000	0.22428	0.663000	0.39108	3.745000	0.55119	0.842000	0.35045	0.533000	0.62120	TTT		0.418	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		A	7064285	T	A	7064285	3	1	810	1	0	0	0	0	1	0	0	0	10478	1841	64	5	1038	5	NLRP14	11	7064285	Missense_Mutation	SNP	T	TCGA-UZ-A9PZ-01A-11D-A42J-10		7064285	127942231	31	48539											
FAR1	84188	hgsc.bcm.edu	37	11	13729613	13729613	+	Missense_Mutation	SNP	A	A	C			TCGA-UZ-A9PZ-01A-11D-A42J-10	TCGA-UZ-A9PZ-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d803a908-b844-4475-8169-a7139df2f89e	027f6901-bb89-4fb7-8e82-7dd1ba7fcaf3	g.chr11:13729613A>C	ENST00000354817.3	+	4	676	c.532A>C	c.(532-534)Att>Ctt	p.I178L		NM_032228.5	NP_115604.1	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	178					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)|wax biosynthetic process (GO:0010025)	integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						CAAGAAGCTGATTGATTCTTT	0.413																																																0													134	131	132					11																	13729613		2200	4294	6494	SO:0001583	missense	84188			AK026381	CCDS7813.1	11p15.2	2011-09-14	2008-06-06	2008-06-06	ENSG00000197601	ENSG00000197601	1.2.1.-	"Short chain dehydrogenase/reductase superfamily / Atypical members"	26222	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 10E, member 1"		"male sterility domain containing 2"	MLSTD2		15220348, 15220349, 19027726	Standard	NM_032228		Approved	FLJ22728, SDR10E1	uc001mld.3	Q8WVX9	OTTHUMG00000165743	ENST00000354817.3:c.532A>C	chr11.hg19:g.13729613A>C	ENSP00000346874:p.Ile178Leu		D3DQW8|Q5CZA3	Missense_Mutation	SNP	ENST00000354817.3	hg19	CCDS7813.1	.	.	.	.	.	.	.	.	.	.	A	16.79	3.219145	0.58560	.	.	ENSG00000197601	ENST00000354817;ENST00000532701;ENST00000355107	T;T	0.28895	2.03;1.59	5.83	5.83	0.93111	NAD(P)-binding domain (1);Male sterility, NAD-binding (1);	0.044587	0.85682	D	0.000000	T	0.24005	0.0581	L	0.31578	0.945	0.80722	D	1	B;B	0.12013	0.005;0.001	B;B	0.17979	0.02;0.012	T	0.07404	-1.0774	10	0.13853	T	0.58	-16.2928	15.8464	0.78895	1.0:0.0:0.0:0.0	.	178;178	E7ETC1;Q8WVX9	.;FACR1_HUMAN	L	178	ENSP00000346874:I178L;ENSP00000437111:I178L	ENSP00000346874:I178L	I	+	1	0	FAR1	13686189	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.011000	0.70760	2.216000	0.71823	0.477000	0.44152	ATT		0.413	FAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385990.2	NM_032228		C	13729613	A	C	13729613	3	2	810	1	0	0	0	0	1	0	0	0	5676	333	12	5	542	5	FAR1	11	13729613	Missense_Mutation	SNP	A	TCGA-UZ-A9PZ-01A-11D-A42J-10	6665328	13729613	121276903	32	48540											
TSPAN11	441631	hgsc.bcm.edu	37	12	31135568	31135568	+	Missense_Mutation	SNP	G	G	C			TCGA-UZ-A9PZ-01A-11D-A42J-10	TCGA-UZ-A9PZ-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d803a908-b844-4475-8169-a7139df2f89e	027f6901-bb89-4fb7-8e82-7dd1ba7fcaf3	g.chr12:31135568G>C	ENST00000261177.9	+	6	617	c.558G>C	c.(556-558)aaG>aaC	p.K186N	TSPAN11_ENST00000535215.1_Missense_Mutation_p.K115N|TSPAN11_ENST00000544427.1_Missense_Mutation_p.K176N|TSPAN11_ENST00000546076.1_Missense_Mutation_p.K186N	NM_001080509.2	NP_001073978.1	A1L157	TSN11_HUMAN	tetraspanin 11	186						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)	11	all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GCTGCTGCAAGACAGTGGTGG	0.647																																																0													19	21	20					12																	31135568		2198	4296	6494	SO:0001583	missense	441631				CCDS31765.1	12p11.21	2013-02-14				ENSG00000110900		"Tetraspanins"	30795	protein-coding gene	gene with protein product							Standard	NM_001080509		Approved		uc001rjp.3	A1L157		ENST00000261177.9:c.558G>C	chr12.hg19:g.31135568G>C	ENSP00000261177:p.Lys186Asn		A1L158|B2RUX6	Missense_Mutation	SNP	ENST00000261177.9	hg19	CCDS31765.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.814257	0.50527	.	.	ENSG00000110900	ENST00000546076;ENST00000535215;ENST00000544427;ENST00000261177	D;D;D;D	0.87334	-2.24;-2.24;-2.24;-2.24	4.01	4.01	0.46588	Tetraspanin, EC2 domain (1);	0.446856	0.20497	U	0.091161	D	0.91418	0.7292	M	0.69185	2.1	0.49798	D	0.999823	D;D	0.89917	0.999;1.0	D;D	0.81914	0.986;0.995	D	0.89311	0.3633	10	0.24483	T	0.36	.	13.6064	0.62050	0.0:0.0:1.0:0.0	.	176;186	F5H0F0;A1L157	.;TSN11_HUMAN	N	186;115;176;186	ENSP00000437403:K186N;ENSP00000445503:K115N;ENSP00000439895:K176N;ENSP00000261177:K186N	ENSP00000261177:K186N	K	+	3	2	TSPAN11	31026835	1.000000	0.71417	1.000000	0.80357	0.334000	0.28698	1.524000	0.35942	1.752000	0.51891	0.313000	0.20887	AAG		0.647	TSPAN11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399888.1	XM_497334		C	31135568	G	C	31135568	3	2	810	1	0	0	0	0	1	0	0	0	16640	933	33	4	576	4	TSPAN11	12	31135568	Missense_Mutation	SNP	G	TCGA-UZ-A9PZ-01A-11D-A42J-10		31135568	102716327	33	48541											
ZFC3H1	196441	hgsc.bcm.edu	37	12	72056805	72056805	+	Missense_Mutation	SNP	G	G	T			TCGA-UZ-A9PZ-01A-11D-A42J-10	TCGA-UZ-A9PZ-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d803a908-b844-4475-8169-a7139df2f89e	027f6901-bb89-4fb7-8e82-7dd1ba7fcaf3	g.chr12:72056805G>T	ENST00000378743.3	-	1	944	c.586C>A	c.(586-588)Cct>Act	p.P196T	ZFC3H1_ENST00000552037.1_Missense_Mutation_p.P196T|THAP2_ENST00000547843.1_5'Flank|THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000549407.1_5'UTR|ZFC3H1_ENST00000548100.1_Missense_Mutation_p.P196T	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	196					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CTCTTCCGAGGTGGAGAGGGC	0.587																																																0													136	151	147					12																	72056805		2010	4169	6179	SO:0001583	missense	196441			AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"Zinc finger, C3H1-type containing"	28328	protein-coding gene	gene with protein product			"proline/serine-rich coiled-coil 2", "coiled-coil domain containing 131"	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.586C>A	chr12.hg19:g.72056805G>T	ENSP00000368017:p.Pro196Thr		Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	hg19	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	G	12.00	1.805554	0.31961	.	.	ENSG00000133858	ENST00000378743;ENST00000548100;ENST00000552037	T	0.29142	1.58	3.73	3.73	0.42828	.	0.434461	0.21170	N	0.078982	T	0.23532	0.0569	N	0.08118	0	0.80722	D	1	B;D;P	0.54207	0.361;0.965;0.849	B;P;B	0.49708	0.141;0.62;0.227	T	0.08371	-1.0725	10	0.34782	T	0.22	.	14.9879	0.71362	0.0:0.0:1.0:0.0	.	196;196;196	G3V1X1;O60293-4;O60293	.;.;ZC3H1_HUMAN	T	196	ENSP00000368017:P196T	ENSP00000368017:P196T	P	-	1	0	ZFC3H1	70343072	0.997000	0.39634	1.000000	0.80357	0.996000	0.88848	2.062000	0.41413	2.384000	0.81235	0.650000	0.86243	CCT		0.587	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		T	72056805	G	T	72056805	3	4	810	1	0	0	0	0	1	0	0	0	17638	1261	44	4	5523	4	ZFC3H1	12	72056805	Missense_Mutation	SNP	G	TCGA-UZ-A9PZ-01A-11D-A42J-10	40921237	72056805	61795090	34	48542											
VPS36	51028	hgsc.bcm.edu	37	13	52992189	52992189	+	Missense_Mutation	SNP	C	C	A			TCGA-UZ-A9PZ-01A-11D-A42J-10	TCGA-UZ-A9PZ-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d803a908-b844-4475-8169-a7139df2f89e	027f6901-bb89-4fb7-8e82-7dd1ba7fcaf3	g.chr13:52992189C>A	ENST00000378060.4	-	11	870	c.843G>T	c.(841-843)ttG>ttT	p.L281F		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)	281					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)		CTGGTGAGAGCAACTAATAGG	0.363																																																0													78	71	73					13																	52992189		2203	4300	6503	SO:0001583	missense	51028			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.843G>T	chr13.hg19:g.52992189C>A	ENSP00000367299:p.Leu281Phe		A8K125|Q3ZCV7|Q5H9S1|Q5VXB6|Q9H8Z5|Q9Y3E3	Missense_Mutation	SNP	ENST00000378060.4	hg19	CCDS9434.1	.	.	.	.	.	.	.	.	.	.	.	20.4	3.978040	0.74360	.	.	ENSG00000136100	ENST00000378060	.	.	.	5.36	4.5	0.54988	.	0.000000	0.85682	D	0.000000	D	0.85102	0.5620	M	0.93594	3.435	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88191	0.2877	9	0.87932	D	0	-9.0496	12.9041	0.58141	0.0:0.9216:0.0:0.0783	.	281	Q86VN1	VPS36_HUMAN	F	281	.	ENSP00000367299:L281F	L	-	3	2	VPS36	51890190	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.228000	0.32588	2.653000	0.90120	0.561000	0.74099	TTG		0.363	VPS36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045059.3			A	52992189	C	A	52992189	3	1	810	1	0	0	0	0	1	0	0	0	17209	709	25	4	333	4	VPS36	13	52992189	Missense_Mutation	SNP	C	TCGA-UZ-A9PZ-01A-11D-A42J-10		52992189	62177689	35	48543											
MYCBP2	23077	hgsc.bcm.edu	37	13	77657271	77657272	+	Missense_Mutation	DNP	TT	TT	CG			TCGA-UZ-A9PZ-01A-11D-A42J-10	TCGA-UZ-A9PZ-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d803a908-b844-4475-8169-a7139df2f89e	027f6901-bb89-4fb7-8e82-7dd1ba7fcaf3	g.chr13:77657271_77657272TT>CG	ENST00000544440.2	-	63	10834_10835	c.10817_10818AA>CG	c.(10816-10818)gAA>gCG	p.E3606A	MYCBP2-AS1_ENST00000448470.2_RNA|MYCBP2-AS1_ENST00000450627.2_RNA|MYCBP2-AS1_ENST00000422231.2_RNA|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2-AS2_ENST00000428716.2_RNA|MYCBP2_ENST00000407578.2_Missense_Mutation_p.E3644A|MYCBP2_ENST00000357337.6_Missense_Mutation_p.E3606A					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)		GATGAGCAGCTTCCCCGGCAAT	0.47																																																0																																										SO:0001583	missense	23077			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"MYC binding protein 2"			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.10817_10818delinsCG	chr13.hg19:g.77657271_77657272delinsCG	ENSP00000444596:p.Glu3606Ala			Silent|Missense_Mutation	SNP	ENST00000544440.2	hg19																																																																																					0.47	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		CG	77657272	TT	CG	77657271	3	2	810	1	0	0	0	0	1	0	0	0	10020	1606	56	3	3188	3	MYCBP2	13	77657271	Missense_Mutation	DNP	TT	TCGA-UZ-A9PZ-01A-11D-A42J-10	24665082	77657271	37512607	36	48544											
KCNH5	27133	hgsc.bcm.edu	37	14	63468086	63468086	+	Silent	SNP	C	C	T	rs143574473		TCGA-UZ-A9PZ-01A-11D-A42J-10	TCGA-UZ-A9PZ-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d803a908-b844-4475-8169-a7139df2f89e	027f6901-bb89-4fb7-8e82-7dd1ba7fcaf3	g.chr14:63468086C>T	ENST00000322893.7	-	4	664	c.396G>A	c.(394-396)acG>acA	p.T132T	KCNH5_ENST00000420622.2_Silent_p.T132T|KCNH5_ENST00000394964.2_Silent_p.T74T|KCNH5_ENST00000394968.1_Silent_p.T74T	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	132	PAC. {ECO:0000255|PROSITE- ProRule:PRU00141}.				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)		GTTTGAACAACGTAATATCCT	0.343													C|||	1	0.000199681	0.0	0.0	5008	,	,		18984	0.0		0.0	False		,,,				2504	0.001															0								C	,,	0,4406		0,0,2203	113	101	105		396,396,222	-11.3	0.1	14	dbSNP_134	105	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	KCNH5	NM_139318.3,NM_172375.1,NM_172376.1	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	132/989,132/612,74/625	63468086	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	27133			U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.396G>A	chr14.hg19:g.63468086C>T			C9JP98	Silent	SNP	ENST00000322893.7	hg19	CCDS9756.1																																																																																				0.343	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		T	63468086	C	T	63468086	2	4	810	1	0	0	0	0	0	0	0	1	8037	523	19	1		1	KCNH5	14	63468086	Silent	SNP	C	TCGA-UZ-A9PZ-01A-11D-A42J-10		63468086	43881454	37	48545											
SLC28A1	9154	hgsc.bcm.edu	37	15	85488365	85488365	+	Silent	SNP	A	A	G			TCGA-UZ-A9PZ-01A-11D-A42J-10	TCGA-UZ-A9PZ-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d803a908-b844-4475-8169-a7139df2f89e	027f6901-bb89-4fb7-8e82-7dd1ba7fcaf3	g.chr15:85488365A>G	ENST00000286749.3	+	18	1974	c.1884A>G	c.(1882-1884)ccA>ccG	p.P628P	SLC28A1_ENST00000538177.1_Silent_p.P462P|SLC28A1_ENST00000394573.1_Silent_p.P628P|SLC28A1_ENST00000537624.1_Intron|SLC28A1_ENST00000537216.1_Intron			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	628					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)	GCGTCAATCCAGAGTTCAGCC	0.547																																																0													141	124	130					15																	85488365		2203	4299	6502	SO:0001819	synonymous_variant	9154			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.1884A>G	chr15.hg19:g.85488365A>G			A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Silent	SNP	ENST00000286749.3	hg19	CCDS10334.1																																																																																				0.547	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308998.2			G	85488365	A	G	85488365	2	3	810	1	0	0	0	0	0	0	0	1	14537	175	7	3		3	SLC28A1	15	85488365	Silent	SNP	A	TCGA-UZ-A9PZ-01A-11D-A42J-10		85488365	17043027	38	48546											
SHMT1	6470	hgsc.bcm.edu	37	17	18232672	18232672	+	Missense_Mutation	SNP	A	A	G			TCGA-UZ-A9PZ-01A-11D-A42J-10	TCGA-UZ-A9PZ-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d803a908-b844-4475-8169-a7139df2f89e	027f6901-bb89-4fb7-8e82-7dd1ba7fcaf3	g.chr17:18232672A>G	ENST00000316694.3	-	11	1336	c.1202T>C	c.(1201-1203)cTg>cCg	p.L401P	SHMT1_ENST00000354098.3_Missense_Mutation_p.L362P|SHMT1_ENST00000539052.1_Missense_Mutation_p.L263P|SHMT1_ENST00000352886.6_Missense_Mutation_p.L321P	NM_004169.3	NP_004160.3	P34896	GLYC_HUMAN	serine hydroxymethyltransferase 1 (soluble)	401					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|folic acid metabolic process (GO:0046655)|glycine biosynthetic process from serine (GO:0019264)|L-serine catabolic process (GO:0006565)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase biosynthetic process (GO:0009113)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	amino acid binding (GO:0016597)|glycine hydroxymethyltransferase activity (GO:0004372)|L-allo-threonine aldolase activity (GO:0008732)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13					Glycine(DB00145)|Mimosine(DB01055)|Tetrahydrofolic acid(DB00116)	CCCCAGCCGCAGTCCACTGGG	0.498																																																0													41	43	42					17																	18232672		2203	4300	6503	SO:0001583	missense	6470				CCDS11196.1, CCDS11197.1, CCDS62112.1	17p11.2	2010-04-23			ENSG00000176974	ENSG00000176974	2.1.2.1		10850	protein-coding gene	gene with protein product	"cytoplasmic serine hydroxymethyltransferase", "14 kDa protein"	182144				8505317	Standard	NM_004169		Approved	CSHMT, SHMT, MGC15229, MGC24556	uc002gta.3	P34896	OTTHUMG00000059094	ENST00000316694.3:c.1202T>C	chr17.hg19:g.18232672A>G	ENSP00000318868:p.Leu401Pro		B4DPM9|D3DXD0|Q96HY0|Q9UMD1|Q9UMD2	Missense_Mutation	SNP	ENST00000316694.3	hg19	CCDS11196.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.193981	0.78902	.	.	ENSG00000176974	ENST00000316694;ENST00000395684;ENST00000352886;ENST00000539052;ENST00000354098	T;T;T;T	0.39592	1.07;1.07;1.07;1.07	5.52	5.52	0.82312	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.75838	0.3904	H	0.96048	3.76	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.91635	0.979;0.999	D	0.84338	0.0525	10	0.87932	D	0	-15.5184	15.9269	0.79624	1.0:0.0:0.0:0.0	.	362;401	P34896-2;P34896	.;GLYC_HUMAN	P	401;176;321;263;362	ENSP00000318868:L401P;ENSP00000345881:L321P;ENSP00000440089:L263P;ENSP00000318805:L362P	ENSP00000318868:L401P	L	-	2	0	SHMT1	18173397	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	6.913000	0.75759	2.228000	0.72767	0.533000	0.62120	CTG		0.498	SHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130831.2	NM_004169		G	18232672	A	G	18232672	3	3	810	1	0	0	0	0	1	0	0	0	14291	188	7	3	257	3	SHMT1	17	18232672	Missense_Mutation	SNP	A	TCGA-UZ-A9PZ-01A-11D-A42J-10		18232672	62962538	39	48547											
TBCD	6904	hgsc.bcm.edu	37	17	80714073	80714073	+	Missense_Mutation	SNP	C	C	A			TCGA-UZ-A9PZ-01A-11D-A42J-10	TCGA-UZ-A9PZ-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d803a908-b844-4475-8169-a7139df2f89e	027f6901-bb89-4fb7-8e82-7dd1ba7fcaf3	g.chr17:80714073C>A	ENST00000355528.4	+	2	347	c.217C>A	c.(217-219)Ctg>Atg	p.L73M	TBCD_ENST00000397466.2_5'UTR|TBCD_ENST00000539345.2_Missense_Mutation_p.L73M	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	73					'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)			GCAGCCTCATCTGTTGGACCC	0.433																																																0													96	91	92					17																	80714073		1904	4125	6029	SO:0001583	missense	6904			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.217C>A	chr17.hg19:g.80714073C>A	ENSP00000347719:p.Leu73Met		O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Missense_Mutation	SNP	ENST00000355528.4	hg19	CCDS45818.1	.	.	.	.	.	.	.	.	.	.	C	19.26	3.793621	0.70452	.	.	ENSG00000141556	ENST00000355528;ENST00000536182	T	0.69926	-0.44	4.84	4.84	0.62591	Armadillo-type fold (1);	.	.	.	.	D	0.85835	0.5789	M	0.92507	3.315	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.89585	0.3823	8	.	.	.	.	16.5397	0.84382	0.0:1.0:0.0:0.0	.	73;73	Q9BTW9;Q9BTW9-4	TBCD_HUMAN;.	M	73	ENSP00000347719:L73M	.	L	+	1	2	TBCD	78307362	0.982000	0.34865	1.000000	0.80357	0.728000	0.41692	0.757000	0.26433	2.231000	0.72958	0.655000	0.94253	CTG		0.433	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439415.1	NM_005993		A	80714073	C	A	80714073	3	1	810	1	0	0	0	0	1	0	0	0	15638	912	32	4	223	4	TBCD	17	80714073	Missense_Mutation	SNP	C	TCGA-UZ-A9PZ-01A-11D-A42J-10	62481401	80714073	481137	40	48548											
DSG1	1828	hgsc.bcm.edu	37	18	28935300	28935300	+	Nonsense_Mutation	SNP	T	T	A			TCGA-UZ-A9PZ-01A-11D-A42J-10	TCGA-UZ-A9PZ-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d803a908-b844-4475-8169-a7139df2f89e	027f6901-bb89-4fb7-8e82-7dd1ba7fcaf3	g.chr18:28935300T>A	ENST00000257192.4	+	15	3353	c.3141T>A	c.(3139-3141)taT>taA	p.Y1047*	RP11-534N16.1_ENST00000578119.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG1_ENST00000462981.2_Nonsense_Mutation_p.Y406*	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	1047					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)			CCGTGCAATATAGCAAGTAGT	0.438																																																0													50	47	48					18																	28935300		2203	4300	6503	SO:0001587	stop_gained	1828			X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"Cadherins / Major cadherins"	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.3141T>A	chr18.hg19:g.28935300T>A	ENSP00000257192:p.Tyr1047*		B7Z845	Nonsense_Mutation	SNP	ENST00000257192.4	hg19	CCDS11896.1	.	.	.	.	.	.	.	.	.	.	T	32	5.188195	0.94923	.	.	ENSG00000134760	ENST00000257192	.	.	.	6.17	-5.88	0.02290	.	0.000000	0.64402	D	0.000009	.	.	.	.	.	.	0.41102	D	0.985674	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.1241	0.97973	0.0:0.6843:0.0:0.3157	.	.	.	.	X	1047	.	ENSP00000257192:Y1047X	Y	+	3	2	DSG1	27189298	0.110000	0.22057	0.666000	0.29783	0.810000	0.45777	-1.057000	0.03486	-1.021000	0.03350	-0.242000	0.12053	TAT		0.438	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942		A	28935300	T	A	28935300	4	1	810	1	0	0	0	0	0	1	0	0	4778	1413	49	5	3199	5	DSG1	18	28935300	Nonsense_Mutation	SNP	T	TCGA-UZ-A9PZ-01A-11D-A42J-10		28935300	49141948	41	48549											
ZNF429	353088	hgsc.bcm.edu	37	19	21712584	21712584	+	Missense_Mutation	SNP	T	T	A			TCGA-UZ-A9PZ-01A-11D-A42J-10	TCGA-UZ-A9PZ-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d803a908-b844-4475-8169-a7139df2f89e	027f6901-bb89-4fb7-8e82-7dd1ba7fcaf3	g.chr19:21712584T>A	ENST00000358491.4	+	2	336	c.128T>A	c.(127-129)cTg>cAg	p.L43Q	ZNF429_ENST00000597078.1_Missense_Mutation_p.L43Q|ZNF429_ENST00000594022.1_3'UTR	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	43	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						TTGGTCTTCCTGGGTGAGAAT	0.373																																																0													100	111	107					19																	21712584		2201	4299	6500	SO:0001583	missense	353088			AY269786	CCDS42537.1	19p12	2014-02-14			ENSG00000197013	ENSG00000197013		"Zinc fingers, C2H2-type", "-"	20817	protein-coding gene	gene with protein product							Standard	NM_001001415		Approved		uc002nqd.1	Q86V71	OTTHUMG00000182848	ENST00000358491.4:c.128T>A	chr19.hg19:g.21712584T>A	ENSP00000351280:p.Leu43Gln		A6NLV7|Q9BZE6	Missense_Mutation	SNP	ENST00000358491.4	hg19	CCDS42537.1	.	.	.	.	.	.	.	.	.	.	.	10.30	1.312394	0.23908	.	.	ENSG00000197013	ENST00000358491	T	0.02763	4.17	0.926	0.926	0.19430	Krueppel-associated box (4);	.	.	.	.	T	0.23014	0.0556	H	0.98682	4.3	0.24819	N	0.992593	D	0.89917	1.0	D	0.97110	1.0	T	0.05533	-1.0879	9	0.87932	D	0	.	6.7513	0.23489	0.0:0.0:0.0:1.0	.	43	Q86V71	ZN429_HUMAN	Q	43	ENSP00000351280:L43Q	ENSP00000351280:L43Q	L	+	2	0	ZNF429	21504424	0.948000	0.32251	0.353000	0.25747	0.357000	0.29423	2.617000	0.46385	0.263000	0.21812	0.260000	0.18958	CTG		0.373	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463981.1	NM_001001415		A	21712584	T	A	21712584	3	1	810	1	0	0	0	0	1	0	0	0	17907	1580	55	5	134	5	ZNF429	19	21712584	Missense_Mutation	SNP	T	TCGA-UZ-A9PZ-01A-11D-A42J-10		21712584	37416399	42	48550											
SLC1A5	6510	hgsc.bcm.edu	37	19	47278876	47278876	+	Missense_Mutation	SNP	G	G	C			TCGA-UZ-A9PZ-01A-11D-A42J-10	TCGA-UZ-A9PZ-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d803a908-b844-4475-8169-a7139df2f89e	027f6901-bb89-4fb7-8e82-7dd1ba7fcaf3	g.chr19:47278876G>C	ENST00000542575.2	-	8	2145	c.1517C>G	c.(1516-1518)cCc>cGc	p.P506R	SLC1A5_ENST00000412532.2_Missense_Mutation_p.P278R|SLC1A5_ENST00000594991.1_Missense_Mutation_p.P330R|FKRP_ENST00000600646.1_Intron|SLC1A5_ENST00000434726.2_Missense_Mutation_p.P304R	NM_005628.2	NP_005619.1	Q15758	AAAT_HUMAN	solute carrier family 1 (neutral amino acid transporter), member 5	506					amino acid transport (GO:0006865)|extracellular amino acid transport (GO:0006860)|glutamine transport (GO:0006868)|ion transport (GO:0006811)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-glutamine transmembrane transporter activity (GO:0015186)|L-serine transmembrane transporter activity (GO:0015194)|neutral amino acid transmembrane transporter activity (GO:0015175)|receptor activity (GO:0004872)|sodium:dicarboxylate symporter activity (GO:0017153)|virus receptor activity (GO:0001618)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	CGGATCCAGGGGCAGCTCACT	0.592																																																0													153	146	148					19																	47278876		2203	4300	6503	SO:0001583	missense	6510			U53347	CCDS12692.1, CCDS46125.1, CCDS46126.1	19q13.32	2013-07-15			ENSG00000105281	ENSG00000105281		"Solute carriers"	10943	protein-coding gene	gene with protein product		109190		RDRC, M7V1		8702519, 10051606	Standard	NM_005628		Approved	AAAT, ASCT2	uc002pfs.3	Q15758	OTTHUMG00000183434	ENST00000542575.2:c.1517C>G	chr19.hg19:g.47278876G>C	ENSP00000444408:p.Pro506Arg		A8K9H5|B4DR77|B4DWS4|B7ZB81|D0EYG6|E9PC01|O95720|Q96RL9|Q9BWQ3|Q9UNP2	Missense_Mutation	SNP	ENST00000542575.2	hg19	CCDS12692.1	.	.	.	.	.	.	.	.	.	.	-	12.62	1.992493	0.35131	.	.	ENSG00000105281	ENST00000542575;ENST00000434726;ENST00000412532;ENST00000306894	T;T;T	0.63255	0.77;-0.03;-0.02	4.88	2.72	0.32119	.	0.616112	0.14575	N	0.311214	T	0.50565	0.1623	L	0.36672	1.1	0.09310	N	1	P;P;P	0.43477	0.808;0.664;0.664	B;B;B	0.42555	0.391;0.168;0.168	T	0.28170	-1.0052	10	0.23302	T	0.38	-16.5459	9.1558	0.36992	0.0824:0.1484:0.7692:0.0	.	304;506;506	E9PC01;Q15758;Q71UA6	.;AAAT_HUMAN;.	R	506;304;278;513	ENSP00000444408:P506R;ENSP00000406532:P304R;ENSP00000397924:P278R	ENSP00000303623:P513R	P	-	2	0	SLC1A5	51970716	0.000000	0.05858	0.003000	0.11579	0.158000	0.22134	0.648000	0.24828	0.638000	0.30545	0.550000	0.68814	CCC		0.592	SLC1A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466630.1			C	47278876	G	C	47278876	3	2	810	1	0	0	0	0	1	0	0	0	14441	1232	43	4	112	4	SLC1A5	19	47278876	Missense_Mutation	SNP	G	TCGA-UZ-A9PZ-01A-11D-A42J-10	25566292	47278876	11850107	43	48551											
PIH1D1	55011	hgsc.bcm.edu	37	19	49950663	49950663	+	Silent	SNP	C	C	T			TCGA-UZ-A9PZ-01A-11D-A42J-10	TCGA-UZ-A9PZ-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d803a908-b844-4475-8169-a7139df2f89e	027f6901-bb89-4fb7-8e82-7dd1ba7fcaf3	g.chr19:49950663C>T	ENST00000262265.5	-	6	778	c.543G>A	c.(541-543)tcG>tcA	p.S181S	PIH1D1_ENST00000596049.1_Silent_p.S181S|PIH1D1_ENST00000602226.1_5'Flank	NM_017916.2	NP_060386.1	Q9NWS0	PIHD1_HUMAN	PIH1 domain containing 1	181					box C/D snoRNP assembly (GO:0000492)|epithelial cell differentiation (GO:0030855)	pre-snoRNP complex (GO:0070761)				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		GACGCTGCTCCGAGCGGATGT	0.622																																																0													69	72	71					19																	49950663		2203	4300	6503	SO:0001819	synonymous_variant	55011			AK000650	CCDS12765.1	19q13.33	2012-07-18	2007-01-31	2007-01-31	ENSG00000104872	ENSG00000104872			26075	protein-coding gene	gene with protein product		611480		NOP17		12477932	Standard	NM_017916		Approved	FLJ20643	uc002pns.2	Q9NWS0		ENST00000262265.5:c.543G>A	chr19.hg19:g.49950663C>T			B4DGN7|B4E2X7|Q9BVL0	Silent	SNP	ENST00000262265.5	hg19	CCDS12765.1																																																																																				0.622	PIH1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465389.2	NM_017916		T	49950663	C	T	49950663	2	4	810	1	0	0	0	0	0	0	0	1	11908	639	23	1		1	PIH1D1	19	49950663	Silent	SNP	C	TCGA-UZ-A9PZ-01A-11D-A42J-10	2671787	49950663	9178320	44	48552											
BMP7	655	hgsc.bcm.edu	37	20	55748287	55748287	+	Missense_Mutation	SNP	T	T	C			TCGA-UZ-A9PZ-01A-11D-A42J-10	TCGA-UZ-A9PZ-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d803a908-b844-4475-8169-a7139df2f89e	027f6901-bb89-4fb7-8e82-7dd1ba7fcaf3	g.chr20:55748287T>C	ENST00000395863.3	-	6	1620	c.1115A>G	c.(1114-1116)aAc>aGc	p.N372S	BMP7_ENST00000450594.2_Missense_Mutation_p.N372S|BMP7_ENST00000395864.3_Missense_Mutation_p.N306S|BMP7_ENST00000460817.1_5'UTR	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	372					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of an epithelial tube (GO:0048754)|cartilage development (GO:0051216)|cellular response to hypoxia (GO:0071456)|dendrite development (GO:0016358)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint morphogenesis (GO:0060272)|epithelial cell differentiation (GO:0030855)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|growth (GO:0040007)|mesenchymal cell differentiation (GO:0048762)|mesenchyme development (GO:0060485)|mesoderm formation (GO:0001707)|mesonephros development (GO:0001823)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|metanephric mesenchyme morphogenesis (GO:0072133)|metanephros development (GO:0001656)|monocyte aggregation (GO:0070487)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell apoptotic process involved in nephron morphogenesis (GO:0072040)|negative regulation of mitosis (GO:0045839)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of dendrite development (GO:1900006)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of hyaluranon cable assembly (GO:1900106)|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 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 localization to nucleus (GO:0034504)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of removal of superoxide radicals (GO:2000121)|response to estradiol (GO:0032355)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|steroid hormone mediated signaling pathway (GO:0043401)|ureteric bud development (GO:0001657)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	heparin binding (GO:0008201)			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			GTTGGTGGCGTTCATGTAGGA	0.627																																																0													212	131	158					20																	55748287		2203	4300	6503	SO:0001583	missense	655				CCDS13455.1	20q13	2014-01-30	2008-05-22		ENSG00000101144	ENSG00000101144		"Bone morphogenetic proteins", "Endogenous ligands"	1074	protein-coding gene	gene with protein product	"osteogenic protein 1"	112267				1427904	Standard	NM_001719		Approved	OP-1	uc010gip.1	P18075	OTTHUMG00000032812	ENST00000395863.3:c.1115A>G	chr20.hg19:g.55748287T>C	ENSP00000379204:p.Asn372Ser		Q9H512|Q9NTQ7	Missense_Mutation	SNP	ENST00000395863.3	hg19	CCDS13455.1	.	.	.	.	.	.	.	.	.	.	T	26.7	4.760251	0.89932	.	.	ENSG00000101144	ENST00000395863;ENST00000395864;ENST00000450594	D;D;D	0.88818	-2.43;-2.43;-2.43	4.68	4.68	0.58851	Transforming growth factor-beta, C-terminal (3);	0.082917	0.85682	D	0.000000	D	0.93989	0.8075	M	0.78344	2.41	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;P;D	0.97110	0.999;0.906;1.0	D	0.94769	0.7943	10	0.87932	D	0	.	14.4246	0.67207	0.0:0.0:0.0:1.0	.	306;372;372	B1AKZ9;P18075;B1AL00	.;BMP7_HUMAN;.	S	372;306;372	ENSP00000379204:N372S;ENSP00000379205:N306S;ENSP00000398687:N372S	ENSP00000379204:N372S	N	-	2	0	BMP7	55181694	1.000000	0.71417	0.991000	0.47740	0.978000	0.69477	7.930000	0.87610	1.878000	0.54408	0.383000	0.25322	AAC		0.627	BMP7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079831.2			C	55748287	T	C	55748287	3	2	810	1	0	0	0	0	1	0	0	0	1465	1725	60	3	188	3	BMP7	20	55748287	Missense_Mutation	SNP	T	TCGA-UZ-A9PZ-01A-11D-A42J-10		55748287	7277233	45	48553											
PRIC285	85441	hgsc.bcm.edu	37	20	62195231	62195231	+	Silent	SNP	G	G	A			TCGA-UZ-A9PZ-01A-11D-A42J-10	TCGA-UZ-A9PZ-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d803a908-b844-4475-8169-a7139df2f89e	027f6901-bb89-4fb7-8e82-7dd1ba7fcaf3	g.chr20:62195231G>A	ENST00000467148.1	-	8	5013	c.4944C>T	c.(4942-4944)ggC>ggT	p.G1648G	HELZ2_ENST00000427522.2_Silent_p.G1079G	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	1648					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)										GGGCGCAGCGGCCGAACGCCG	0.692																																																0													15	14	14					20																	62195231		2162	4271	6433	SO:0001819	synonymous_variant	85441			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.4944C>T	chr20.hg19:g.62195231G>A			Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	ENST00000467148.1	hg19	CCDS33508.1																																																																																				0.692	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		A	62195231	G	A	62195231	2	1	810	1	0	0	0	0	0	0	0	1	12490	1190	42	2		2	PRIC285	20	62195231	Silent	SNP	G	TCGA-UZ-A9PZ-01A-11D-A42J-10	6446944	62195231	830289	46	48554											
ARID1A	8289	hgsc.bcm.edu	37	1	27105645	27105645	+	Frame_Shift_Del	DEL	G	G	-			TCGA-UZ-A9Q0-01A-12D-A42J-10	TCGA-UZ-A9Q0-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1ade8c1b-f1d7-49ad-a7f1-d7b91dd79670	43bffa96-ab4f-4ba3-b15b-918e180d7be6	g.chr1:27105645delG	ENST00000324856.7	+	20	5627	c.5256delG	c.(5254-5256)aagfs	p.K1752fs	ARID1A_ENST00000540690.1_Frame_Shift_Del_p.K80fs|ARID1A_ENST00000457599.2_Frame_Shift_Del_p.K1535fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.K1369fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1752					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)		GGTTCAGCAAGGTGTCTAGTC	0.473			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																		Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0													84	88	87					1																	27105645		2203	4300	6503	SO:0001589	frameshift_variant	8289			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.5256delG	chr1.hg19:g.27105645delG	ENSP00000320485:p.Lys1752fs		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Del	DEL	ENST00000324856.7	hg19	CCDS285.1																																																																																				0.473	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		-	27105645	G	-	27105645	7	5	811	1	0	1	0	1	0	0	0	0	913	991	35	0	5334	0	ARID1A	1	27105645	Frame_Shift_Del	DEL	G	TCGA-UZ-A9Q0-01A-12D-A42J-10		27105645	222144976	1	48555											
ZC3H12A	80149	hgsc.bcm.edu	37	1	37948519	37948519	+	Silent	SNP	A	A	T			TCGA-UZ-A9Q0-01A-12D-A42J-10	TCGA-UZ-A9Q0-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1ade8c1b-f1d7-49ad-a7f1-d7b91dd79670	43bffa96-ab4f-4ba3-b15b-918e180d7be6	g.chr1:37948519A>T	ENST00000373087.6	+	6	1223	c.1107A>T	c.(1105-1107)acA>acT	p.T369T		NM_025079.2	NP_079355.2			zinc finger CCCH-type containing 12A											NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTCTGCTAACAGAGAGTGAGC	0.612																																																0													23	25	25					1																	37948519		2203	4300	6503	SO:0001819	synonymous_variant	80149				CCDS417.1	1p34.3	2012-07-05			ENSG00000163874	ENSG00000163874		"Zinc fingers, CCCH-type domain containing"	26259	protein-coding gene	gene with protein product	"MCP induced protein 1"	610562				18178554, 22055188	Standard	NM_025079		Approved	FLJ23231, MCPIP1	uc001cbb.4	Q5D1E8	OTTHUMG00000004221	ENST00000373087.6:c.1107A>T	chr1.hg19:g.37948519A>T				Silent	SNP	ENST00000373087.6	hg19	CCDS417.1																																																																																				0.612	ZC3H12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012154.2	NM_025079		T	37948519	A	T	37948519	2	4	811	1	0	0	0	0	0	0	0	1	17566	175	7	5		5	ZC3H12A	1	37948519	Silent	SNP	A	TCGA-UZ-A9Q0-01A-12D-A42J-10	10842874	37948519	211302102	2	48556											
PRPF3	9129	hgsc.bcm.edu	37	1	150325324	150325324	+	Silent	SNP	C	C	A			TCGA-UZ-A9Q0-01A-12D-A42J-10	TCGA-UZ-A9Q0-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1ade8c1b-f1d7-49ad-a7f1-d7b91dd79670	43bffa96-ab4f-4ba3-b15b-918e180d7be6	g.chr1:150325324C>A	ENST00000324862.6	+	16	2086	c.1921C>A	c.(1921-1923)Cgg>Agg	p.R641R	PRPF3_ENST00000414970.2_Silent_p.R592R|PRPF3_ENST00000467329.1_3'UTR	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	641					mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 x U5 tri-snRNP complex (GO:0046540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		AGCCAAAGACCGGAGCTTTGG	0.368																																					Ovarian(168;1070 2670 5178 20729)											0													82	84	83					1																	150325324		2203	4300	6503	SO:0001819	synonymous_variant	9129			AF001947	CCDS951.1	1q21.1	2013-07-16	2013-06-10		ENSG00000117360	ENSG00000117360			17348	protein-coding gene	gene with protein product		607301	"retinitis pigmentosa 18 (autosomal dominant)", "PRP3 pre-mRNA processing factor 3 homolog (yeast)", "PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae)"	RP18			Standard	NM_004698		Approved	Prp3, hPrp3, SNRNP90	uc001eum.4	O43395	OTTHUMG00000012807	ENST00000324862.6:c.1921C>A	chr1.hg19:g.150325324C>A			B4DSY9|O43446|Q5VT54	Silent	SNP	ENST00000324862.6	hg19	CCDS951.1																																																																																				0.368	PRPF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035836.1	NM_004698		A	150325324	C	A	150325324	2	1	811	1	0	0	0	0	0	0	0	1	12570	643	23	4		4	PRPF3	1	150325324	Silent	SNP	C	TCGA-UZ-A9Q0-01A-12D-A42J-10	112376805	150325324	98925297	3	48557											
MCL1	4170	hgsc.bcm.edu	37	1	150551933	150551933	+	Missense_Mutation	SNP	C	C	A			TCGA-UZ-A9Q0-01A-12D-A42J-10	TCGA-UZ-A9Q0-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1ade8c1b-f1d7-49ad-a7f1-d7b91dd79670	43bffa96-ab4f-4ba3-b15b-918e180d7be6	g.chr1:150551933C>A	ENST00000369026.2	-	1	133	c.74G>T	c.(73-75)aGc>aTc	p.S25I	MCL1_ENST00000464132.1_5'Flank|MCL1_ENST00000307940.3_Missense_Mutation_p.S25I	NM_001197320.1|NM_021960.4	NP_001184249.1|NP_068779.1	Q07820	MCL1_HUMAN	myeloid cell leukemia 1	25					apoptotic mitochondrial changes (GO:0008637)|cell fate determination (GO:0001709)|cellular homeostasis (GO:0019725)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|protein transmembrane transport (GO:0071806)|regulation of response to DNA damage stimulus (GO:2001020)|response to cytokine (GO:0034097)	Bcl-2 family protein complex (GO:0097136)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	BH3 domain binding (GO:0051434)|protein channel activity (GO:0015266)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GGCGCCGCCGCTGCCGGCCCC	0.701																																																0													8	12	11					1																	150551933		1186	2513	3699	SO:0001583	missense	4170			BC017197	CCDS956.1, CCDS957.1, CCDS72909.1	1q21	2014-03-07	2014-03-07		ENSG00000143384	ENSG00000143384			6943	protein-coding gene	gene with protein product		159552	"myeloid cell leukemia sequence 1 (BCL2-related)"			7682708, 7835896	Standard	NM_021960		Approved	BCL2L3, Mcl-1	uc001euz.3	Q07820	OTTHUMG00000034867	ENST00000369026.2:c.74G>T	chr1.hg19:g.150551933C>A	ENSP00000358022:p.Ser25Ile		B2R6B2|D3DV03|D3DV04|Q9HD91|Q9NRQ3|Q9NRQ4|Q9UHR7|Q9UHR8|Q9UHR9|Q9UNJ1	Missense_Mutation	SNP	ENST00000369026.2	hg19	CCDS957.1	.	.	.	.	.	.	.	.	.	.	C	10.38	1.333131	0.24167	.	.	ENSG00000143384	ENST00000369026;ENST00000307940;ENST00000439749	T;T	0.27720	2.8;1.65	4.72	2.75	0.32379	.	0.757532	0.11269	N	0.581776	T	0.08313	0.0207	N	0.19112	0.55	0.24195	N	0.995532	P;B	0.36249	0.545;0.119	B;B	0.32533	0.147;0.07	T	0.16012	-1.0417	10	0.62326	D	0.03	-0.9013	11.0335	0.47787	0.0:0.6369:0.3631:0.0	.	25;25	Q07820-2;Q07820	.;MCL1_HUMAN	I	25	ENSP00000358022:S25I;ENSP00000309973:S25I	ENSP00000309973:S25I	S	-	2	0	MCL1	148818557	0.045000	0.20229	0.618000	0.29105	0.094000	0.18550	0.869000	0.27996	0.549000	0.28973	0.561000	0.74099	AGC		0.701	MCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084402.1	NM_021960		A	150551933	C	A	150551933	3	1	811	1	0	0	0	0	1	0	0	0	9386	797	28	4	1001	4	MCL1	1	150551933	Missense_Mutation	SNP	C	TCGA-UZ-A9Q0-01A-12D-A42J-10	226609	150551933	98698688	4	48558											
TDRKH	11022	hgsc.bcm.edu	37	1	151748012	151748012	+	Missense_Mutation	SNP	C	C	G			TCGA-UZ-A9Q0-01A-12D-A42J-10	TCGA-UZ-A9Q0-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1ade8c1b-f1d7-49ad-a7f1-d7b91dd79670	43bffa96-ab4f-4ba3-b15b-918e180d7be6	g.chr1:151748012C>G	ENST00000368822.1	-	10	1923	c.1290G>C	c.(1288-1290)caG>caC	p.Q430H	TDRKH_ENST00000368825.3_Missense_Mutation_p.Q385H|TDRKH_ENST00000368824.3_Missense_Mutation_p.Q430H|TDRKH_ENST00000368823.1_Missense_Mutation_p.Q426H|TDRKH_ENST00000440583.2_Missense_Mutation_p.Q206H|TDRKH_ENST00000458431.2_Missense_Mutation_p.Q430H|TDRKH_ENST00000368827.6_Missense_Mutation_p.Q430H			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	430					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)			CCTCTTCCCACTGGTCACCTG	0.502																																																0													84	79	81					1																	151748012		1909	4121	6030	SO:0001583	missense	11022			AF227192	CCDS41394.1, CCDS41395.1	1q21	2013-01-23	2003-11-07		ENSG00000182134	ENSG00000182134		"Tudor domain containing"	11713	protein-coding gene	gene with protein product		609501	"tudor and KH domain containing"			10767542	Standard	NM_001083964		Approved	TDRD2	uc001eza.4	Q9Y2W6	OTTHUMG00000013062	ENST00000368822.1:c.1290G>C	chr1.hg19:g.151748012C>G	ENSP00000357812:p.Gln430His		D3DV24|Q5SZR3|Q5SZR5|Q8N582|Q9NYV5	Missense_Mutation	SNP	ENST00000368822.1	hg19	CCDS41394.1	.	.	.	.	.	.	.	.	.	.	C	10.12	1.263143	0.23051	.	.	ENSG00000182134	ENST00000368827;ENST00000368825;ENST00000368824;ENST00000368823;ENST00000368822;ENST00000458431;ENST00000440583	T;T;T;T;T;T;T	0.23950	2.21;1.88;2.21;2.21;2.21;2.21;1.88	5.92	-9.61	0.00550	.	0.718421	0.14138	N	0.338922	T	0.03827	0.0108	N	0.22421	0.69	0.19775	N	0.999958	B;B;B	0.09022	0.002;0.002;0.001	B;B;B	0.06405	0.002;0.002;0.001	T	0.39941	-0.9589	10	0.17832	T	0.49	-3.0131	12.7851	0.57500	0.0:0.3884:0.0756:0.536	.	385;426;430	Q5SZR5;Q5SZR4;Q9Y2W6	.;.;TDRKH_HUMAN	H	430;385;430;426;430;430;206	ENSP00000357819:Q430H;ENSP00000357817:Q385H;ENSP00000357815:Q430H;ENSP00000357813:Q426H;ENSP00000357812:Q430H;ENSP00000395718:Q430H;ENSP00000416645:Q206H	ENSP00000357812:Q430H	Q	-	3	2	TDRKH	150014636	0.000000	0.05858	0.228000	0.23943	0.945000	0.59286	-1.669000	0.01958	-1.556000	0.01695	-1.149000	0.01842	CAG		0.502	TDRKH-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000036648.2	NM_006862		G	151748012	C	G	151748012	3	3	811	1	0	0	0	0	1	0	0	0	15742	564	20	4	411	4	TDRKH	1	151748012	Missense_Mutation	SNP	C	TCGA-UZ-A9Q0-01A-12D-A42J-10	1196079	151748012	97502609	5	48559											
ASTN1	460	hgsc.bcm.edu	37	1	176863825	176863825	+	Missense_Mutation	SNP	C	C	G	rs377472669		TCGA-UZ-A9Q0-01A-12D-A42J-10	TCGA-UZ-A9Q0-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1ade8c1b-f1d7-49ad-a7f1-d7b91dd79670	43bffa96-ab4f-4ba3-b15b-918e180d7be6	g.chr1:176863825C>G	ENST00000367654.3	-	17	3048	c.2837G>C	c.(2836-2838)cGa>cCa	p.R946P	ASTN1_ENST00000361833.2_Missense_Mutation_p.R938P|ASTN1_ENST00000424564.2_Missense_Mutation_p.R938P|ASTN1_ENST00000367657.3_Missense_Mutation_p.R938P	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	946					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						CGAGGGGCATCGTCCCTTGCT	0.602																																																0													99	97	97					1																	176863825		2203	4300	6503	SO:0001583	missense	460			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"astrotactin"	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.2837G>C	chr1.hg19:g.176863825C>G	ENSP00000356626:p.Arg946Pro		A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	hg19		.	.	.	.	.	.	.	.	.	.	C	22.4	4.284468	0.80803	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.33865	1.39;1.39;1.39;1.39	5.26	5.26	0.73747	.	0.056729	0.64402	D	0.000001	T	0.45736	0.1357	L	0.39898	1.24	0.58432	D	0.999999	D;D	0.53151	0.958;0.958	P;P	0.52881	0.712;0.712	T	0.43718	-0.9374	10	0.87932	D	0	-14.8582	18.8334	0.92150	0.0:1.0:0.0:0.0	.	938;938	O14525-2;B1AJS1	.;.	P	938;938;946;938;938	ENSP00000356629:R938P;ENSP00000354536:R938P;ENSP00000356626:R946P;ENSP00000395041:R938P	ENSP00000354536:R938P	R	-	2	0	ASTN1	175130448	1.000000	0.71417	0.971000	0.41717	0.999000	0.98932	5.330000	0.65899	2.640000	0.89533	0.655000	0.94253	CGA		0.602	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		G	176863825	C	G	176863825	3	3	811	1	0	0	0	0	1	0	0	0	1064	884	31	4	1103	4	ASTN1	1	176863825	Missense_Mutation	SNP	C	TCGA-UZ-A9Q0-01A-12D-A42J-10	25115813	176863825	72386796	6	48560											
RASAL2	9462	hgsc.bcm.edu	37	1	178063695	178063695	+	Missense_Mutation	SNP	T	T	C			TCGA-UZ-A9Q0-01A-12D-A42J-10	TCGA-UZ-A9Q0-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1ade8c1b-f1d7-49ad-a7f1-d7b91dd79670	43bffa96-ab4f-4ba3-b15b-918e180d7be6	g.chr1:178063695T>C	ENST00000367649.3	+	1	420	c.68T>C	c.(67-69)cTg>cCg	p.L23P	RASAL2_ENST00000448150.3_Missense_Mutation_p.L5P|RASAL2-AS1_ENST00000421505.1_lincRNA			Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	0					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						TTCCCGGCGCTGGAGTCCGAC	0.716																																																0													17	16	16					1																	178063695		2197	4292	6489	SO:0001583	missense	9462			AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"Pleckstrin homology (PH) domain containing"	9874	protein-coding gene	gene with protein product	"Ras GTPase activating protein-like", "Ras protein activator like 1"	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000367649.3:c.68T>C	chr1.hg19:g.178063695T>C	ENSP00000356621:p.Leu23Pro		F8W755|O95174|Q2TB22|Q5TFU9	Missense_Mutation	SNP	ENST00000367649.3	hg19	CCDS1321.2	.	.	.	.	.	.	.	.	.	.	T	21.2	4.119866	0.77323	.	.	ENSG00000075391	ENST00000448150;ENST00000367649	T;T	0.23754	1.89;2.02	4.69	3.55	0.40652	.	0.203901	0.23740	N	0.045038	T	0.16557	0.0398	N	0.08118	0	0.44515	D	0.997463	P	0.39131	0.661	P	0.45232	0.474	T	0.05037	-1.0910	10	0.87932	D	0	.	7.6777	0.28494	0.0:0.1:0.0:0.9	.	23	F8W755	.	P	5;23	ENSP00000407768:L5P;ENSP00000356621:L23P	ENSP00000356621:L23P	L	+	2	0	RASAL2	176330318	0.972000	0.33761	0.949000	0.38748	0.887000	0.51463	1.179000	0.31993	1.860000	0.53959	0.402000	0.26972	CTG		0.716	RASAL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352415.1	NM_170692		C	178063695	T	C	178063695	3	2	811	1	0	0	0	0	1	0	0	0	13070	1580	55	3	70	3	RASAL2	1	178063695	Missense_Mutation	SNP	T	TCGA-UZ-A9Q0-01A-12D-A42J-10	1199870	178063695	71186926	7	48561											
OBSCN	84033	hgsc.bcm.edu	37	1	228528466	228528466	+	Silent	SNP	G	G	A	rs558801538		TCGA-UZ-A9Q0-01A-12D-A42J-10	TCGA-UZ-A9Q0-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1ade8c1b-f1d7-49ad-a7f1-d7b91dd79670	43bffa96-ab4f-4ba3-b15b-918e180d7be6	g.chr1:228528466G>A	ENST00000422127.1	+	72	17618	c.17574G>A	c.(17572-17574)gcG>gcA	p.A5858A	OBSCN_ENST00000284548.11_Silent_p.A5858A|OBSCN_ENST00000570156.2_Silent_p.A6815A|OBSCN_ENST00000366709.4_Silent_p.A2977A|OBSCN_ENST00000366707.4_Silent_p.A3492A	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5858	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				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)				AGAACTGCGCGCTGCTGGAGC	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		15267	0.0		0.001	False		,,,				2504	0.0															0													18	22	21					1																	228528466		1999	4162	6161	SO:0001819	synonymous_variant	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.17574G>A	chr1.hg19:g.228528466G>A			Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	hg19	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.494467	0.26774	.	.	ENSG00000154358	ENST00000441106	T	0.63096	-0.02	5.04	-7.86	0.01187	.	0.247869	0.35466	N	0.003192	T	0.40222	0.1108	.	.	.	0.53688	D	0.999977	.	.	.	.	.	.	T	0.35525	-0.9785	7	0.18276	T	0.48	.	3.5033	0.07681	0.3257:0.3274:0.2639:0.0831	.	.	.	.	T	475	ENSP00000388554:A475T	ENSP00000388554:A475T	A	+	1	0	OBSCN	226595089	0.000000	0.05858	0.146000	0.22360	0.269000	0.26545	-1.982000	0.01489	-1.315000	0.02297	-0.266000	0.10368	GCT		0.637	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		A	228528466	G	A	228528466	2	1	811	1	0	0	0	0	0	0	0	1	10814	1074	38	1		1	OBSCN	1	228528466	Silent	SNP	G	TCGA-UZ-A9Q0-01A-12D-A42J-10	50464771	228528466	20722155	8	48562											
ITPRIPL1	150771	hgsc.bcm.edu	37	2	96993651	96993651	+	Missense_Mutation	SNP	A	A	G	rs35855657	byFrequency	TCGA-UZ-A9Q0-01A-12D-A42J-10	TCGA-UZ-A9Q0-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1ade8c1b-f1d7-49ad-a7f1-d7b91dd79670	43bffa96-ab4f-4ba3-b15b-918e180d7be6	g.chr2:96993651A>G	ENST00000439118.2	+	3	1533	c.1282A>G	c.(1282-1284)Agt>Ggt	p.S428G	ITPRIPL1_ENST00000536814.1_Missense_Mutation_p.S420G|ITPRIPL1_ENST00000542887.1_Missense_Mutation_p.S420G|ITPRIPL1_ENST00000361124.4_Missense_Mutation_p.S436G	NM_001008949.2	NP_001008949.1	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	428			S -> C (in dbSNP:rs35855657).			integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GATCATTTTAAGTCTCCGGCA	0.557																																																0													93	94	93					2																	96993651		2203	4300	6503	SO:0001583	missense	150771				CCDS33250.1, CCDS46360.1, CCDS54378.1	2q11.2	2011-04-28	2011-04-28	2008-08-11	ENSG00000198885	ENSG00000198885			29371	protein-coding gene	gene with protein product			"KIAA1754-like", "inositol 1,4,5-triphosphate receptor interacting protein-like 1"	KIAA1754L		12477932	Standard	NM_178495		Approved		uc010yul.2	Q6GPH6	OTTHUMG00000155230	ENST00000439118.2:c.1282A>G	chr2.hg19:g.96993651A>G	ENSP00000389308:p.Ser428Gly		F5H1L8|Q8NE61	Missense_Mutation	SNP	ENST00000439118.2	hg19	CCDS46360.1	.	.	.	.	.	.	.	.	.	.	A	14.17	2.456320	0.43634	.	.	ENSG00000198885	ENST00000536814;ENST00000439118;ENST00000361124;ENST00000542887	T;T;T;T	0.08458	3.09;3.09;3.09;3.09	5.5	4.29	0.51040	.	0.374013	0.22795	N	0.055547	T	0.04815	0.0130	N	0.03608	-0.345	0.29897	N	0.824686	P;P	0.43578	0.774;0.811	B;B	0.44315	0.318;0.446	T	0.08310	-1.0728	10	0.52906	T	0.07	-1.8867	8.2792	0.31889	0.7022:0.0:0.0:0.2977	.	436;428	Q6GPH6-2;Q6GPH6	.;IPIL1_HUMAN	G	420;428;436;420	ENSP00000439566:S420G;ENSP00000389308:S428G;ENSP00000355121:S436G;ENSP00000438212:S420G	ENSP00000355121:S436G	S	+	1	0	ITPRIPL1	96357378	1.000000	0.71417	0.981000	0.43875	0.824000	0.46624	4.036000	0.57304	2.308000	0.77769	0.533000	0.62120	AGT		0.557	ITPRIPL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338896.1	NM_178495		G	96993651	A	G	96993651	3	3	811	1	0	0	0	0	1	0	0	0	7926	72	3	3	1322	3	ITPRIPL1	2	96993651	Missense_Mutation	SNP	A	TCGA-UZ-A9Q0-01A-12D-A42J-10		96993651	146205722	9	48563											
CFC1	653275	hgsc.bcm.edu	37	2	131279604	131279604	+	Frame_Shift_Del	DEL	C	C	-			TCGA-UZ-A9Q0-01A-12D-A42J-10	TCGA-UZ-A9Q0-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1ade8c1b-f1d7-49ad-a7f1-d7b91dd79670	43bffa96-ab4f-4ba3-b15b-918e180d7be6	g.chr2:131279604delC	ENST00000281882.3	+	3	436	c.148delC	c.(148-150)ccgfs	p.P50fs	AC013269.3_ENST00000450486.1_RNA	NM_001079530.1	NP_001072998.1	P0CG36	CFC1B_HUMAN	cripto, FRL-1, cryptic family 1B	50					gastrulation (GO:0007369)	extracellular region (GO:0005576)						Colorectal(110;0.1)					CCGACAGTCACCGCTCAACTG	0.547																																																0													5	1	5					2																	131279604		353	34	387	SO:0001589	frameshift_variant	653275				CCDS33286.1	2q21.1	2008-09-04			ENSG00000152093	ENSG00000152093			33983	protein-coding gene	gene with protein product							Standard	NM_001079530		Approved		uc002trl.2	P0CG36	OTTHUMG00000153959	ENST00000281882.3:c.148delC	chr2.hg19:g.131279604delC	ENSP00000281882:p.Pro50fs		B2RCY0|B9EJD3|Q53T05|Q9GZR3	Frame_Shift_Del	DEL	ENST00000281882.3	hg19	CCDS33286.1																																																																																				0.547	CFC1B-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254521.1	NM_001079530		-	131279604	C	-	131279604	7	5	811	1	0	1	0	1	0	0	0	0	3281	507	18	0	158	0	CFC1	2	131279604	Frame_Shift_Del	DEL	C	TCGA-UZ-A9Q0-01A-12D-A42J-10	34285953	131279604	111919769	10	48564											
CFC1	55997	hgsc.bcm.edu	37	2	131356313	131356313	+	Frame_Shift_Del	DEL	G	G	-			TCGA-UZ-A9Q0-01A-12D-A42J-10	TCGA-UZ-A9Q0-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1ade8c1b-f1d7-49ad-a7f1-d7b91dd79670	43bffa96-ab4f-4ba3-b15b-918e180d7be6	g.chr2:131356313delG	ENST00000259216.4	-	3	411	c.149delC	c.(148-150)ccgfs	p.P50fs		NM_032545.3	NP_115934.1	P0CG37	CFC1_HUMAN	cripto, FRL-1, cryptic family 1	50					determination of left/right symmetry (GO:0007368)|gastrulation (GO:0007369)|nodal signaling pathway (GO:0038092)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)	nodal binding (GO:0038100)			endometrium(1)|lung(4)	5	Colorectal(110;0.1)					CCAGTTGAGCGGTGACTGTCG	0.557																																																0													13	20	18					2																	131356313		2172	4248	6420	SO:0001589	frameshift_variant	55997			AF312769	CCDS2162.1, CCDS74573.1, CCDS74574.1	2q21.2	2014-02-04			ENSG00000136698	ENSG00000136698			18292	protein-coding gene	gene with protein product		605194	"heterotaxy 2 (autosomal dominant)"	HTX2		11062482, 10858660	Standard	NM_032545		Approved	CRYPTIC, HTX2	uc002tro.2	P0CG37	OTTHUMG00000131628	ENST00000259216.4:c.149delC	chr2.hg19:g.131356313delG	ENSP00000259216:p.Pro50fs		B2RCY0|B9EJD3|Q53T05|Q9GZR3	Frame_Shift_Del	DEL	ENST00000259216.4	hg19	CCDS2162.1																																																																																				0.557	CFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333367.1	NM_032545		-	131356313	G	-	131356313	7	5	811	1	0	1	0	1	0	0	0	0	3281	1116	39	0	1234	0	CFC1	2	131356313	Frame_Shift_Del	DEL	G	TCGA-UZ-A9Q0-01A-12D-A42J-10	76709	131356313	111843060	11	48565											
CCNT2	905	hgsc.bcm.edu	37	2	135710229	135710229	+	Missense_Mutation	SNP	T	T	C			TCGA-UZ-A9Q0-01A-12D-A42J-10	TCGA-UZ-A9Q0-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1ade8c1b-f1d7-49ad-a7f1-d7b91dd79670	43bffa96-ab4f-4ba3-b15b-918e180d7be6	g.chr2:135710229T>C	ENST00000264157.5	+	8	752	c.722T>C	c.(721-723)cTa>cCa	p.L241P	CCNT2_ENST00000537343.1_Missense_Mutation_p.L66P|CCNT2_ENST00000295238.6_Missense_Mutation_p.L241P	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN	cyclin T2	241					cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|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)				endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		CATGAGTTTCTACAAATATTG	0.313																																																0													63	69	67					2																	135710229		2203	4300	6503	SO:0001583	missense	905			AF048731	CCDS2174.1, CCDS2175.1	2q21.3	2010-11-15			ENSG00000082258	ENSG00000082258			1600	protein-coding gene	gene with protein product		603862				9499409, 10465067	Standard	NM_001241		Approved		uc002tuc.2	O60583	OTTHUMG00000131712	ENST00000264157.5:c.722T>C	chr2.hg19:g.135710229T>C	ENSP00000264157:p.Leu241Pro		A8KA48|D3DP73|D3DP74|O60582|Q29R66|Q53SR4|Q5I1Y0	Missense_Mutation	SNP	ENST00000264157.5	hg19	CCDS2174.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.486977	0.84854	.	.	ENSG00000082258	ENST00000446247;ENST00000537343;ENST00000295238;ENST00000264157	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	5.7	5.7	0.88788	Cyclin-like (1);	0.000000	0.85682	D	0.000000	T	0.78566	0.4303	M	0.91612	3.225	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.991;0.996	D	0.83854	0.0264	10	0.87932	D	0	.	15.6442	0.77036	0.0:0.0:0.0:1.0	.	66;241;241	B4DH21;O60583;O60583-2	.;CCNT2_HUMAN;.	P	82;66;241;241	ENSP00000399497:L82P;ENSP00000439506:L66P;ENSP00000295238:L241P;ENSP00000264157:L241P	ENSP00000264157:L241P	L	+	2	0	CCNT2	135426699	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.281000	0.72632	2.167000	0.68274	0.528000	0.53228	CTA		0.313	CCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254629.1	NM_058241		C	135710229	T	C	135710229	3	2	811	1	0	0	0	0	1	0	0	0	2937	1522	53	3	752	3	CCNT2	2	135710229	Missense_Mutation	SNP	T	TCGA-UZ-A9Q0-01A-12D-A42J-10	4353916	135710229	107489144	12	48566											
MAGI1	9223	hgsc.bcm.edu	37	3	65342733	65342733	+	Frame_Shift_Del	DEL	G	G	-			TCGA-UZ-A9Q0-01A-12D-A42J-10	TCGA-UZ-A9Q0-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1ade8c1b-f1d7-49ad-a7f1-d7b91dd79670	43bffa96-ab4f-4ba3-b15b-918e180d7be6	g.chr3:65342733delG	ENST00000402939.2	-	23	3708	c.3709delC	c.(3709-3711)cggfs	p.R1237fs	RP11-88H12.2_ENST00000602316.1_RNA|MAGI1_ENST00000330909.8_3'UTR	NM_001033057.1	NP_001028229.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1266					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)		GGATGCTGCCGGCGGTCGGGC	0.622																																																0													70	73	72					3																	65342733		2203	4300	6503	SO:0001589	frameshift_variant	9223			AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"BAI1-associated protein 1"	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000402939.2:c.3709delC	chr3.hg19:g.65342733delG	ENSP00000385450:p.Arg1237fs		A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Frame_Shift_Del	DEL	ENST00000402939.2	hg19	CCDS33780.1																																																																																				0.622	MAGI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349126.1	NM_004742		-	65342733	G	-	65342733	7	5	811	1	0	1	0	1	0	0	0	0	9192	1115	39	0	683	0	MAGI1	3	65342733	Frame_Shift_Del	DEL	G	TCGA-UZ-A9Q0-01A-12D-A42J-10		65342733	132679697	13	48567											
STXBP5L	9515	hgsc.bcm.edu	37	3	121100364	121100367	+	Frame_Shift_Del	DEL	ATGG	ATGG	-			TCGA-UZ-A9Q0-01A-12D-A42J-10	TCGA-UZ-A9Q0-10A-01D-A42M-10	ATGG	ATGG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1ade8c1b-f1d7-49ad-a7f1-d7b91dd79670	43bffa96-ab4f-4ba3-b15b-918e180d7be6	g.chr3:121100364_121100367delATGG	ENST00000273666.6	+	23	2915_2918	c.2644_2647delATGG	c.(2644-2649)atggtafs	p.MV882fs	STXBP5L_ENST00000471454.1_Frame_Shift_Del_p.MV858fs|STXBP5L_ENST00000497029.1_Frame_Shift_Del_p.MV856fs|STXBP5L_ENST00000472879.1_Frame_Shift_Del_p.MV858fs|STXBP5L_ENST00000492541.1_Frame_Shift_Del_p.MV882fs	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	882					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)		AGAGCCAGTCATGGTATTGCCAAG	0.353																																																0																																										SO:0001589	frameshift_variant	9515			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.2644_2647delATGG	chr3.hg19:g.121100364_121100367delATGG	ENSP00000273666:p.Met882fs		Q4G1B4|Q6PIC3	Frame_Shift_Del	DEL	ENST00000273666.6	hg19	CCDS43137.1																																																																																				0.353	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			-	121100367	ATGG	-	121100364	7	5	811	1	0	1	0	1	0	0	0	0	15362	217	8	0	2730	0	STXBP5L	3	121100364	Frame_Shift_Del	DEL	ATGG	TCGA-UZ-A9Q0-01A-12D-A42J-10	55757631	121100364	76922066	14	48568											
MUC13	56667	hgsc.bcm.edu	37	3	124632081	124632081	+	Missense_Mutation	SNP	C	C	T			TCGA-UZ-A9Q0-01A-12D-A42J-10	TCGA-UZ-A9Q0-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1ade8c1b-f1d7-49ad-a7f1-d7b91dd79670	43bffa96-ab4f-4ba3-b15b-918e180d7be6	g.chr3:124632081C>T	ENST00000311075.3	-	8	1126	c.1088G>A	c.(1087-1089)aGt>aAt	p.S363N		NM_033049.3	NP_149038	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	364	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						ACACTTGAGACTGGAAGCTTC	0.468																																																0													59	58	58					3																	124632081		2203	4300	6503	SO:0001583	missense	56667			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.1088G>A	chr3.hg19:g.124632081C>T	ENSP00000312235:p.Ser363Asn		Q6UWD9|Q9NXT5	Missense_Mutation	SNP	ENST00000311075.3	hg19		.	.	.	.	.	.	.	.	.	.	C	8.737	0.918083	0.17982	.	.	ENSG00000173702	ENST00000311075	D	0.87334	-2.24	2.5	-2.08	0.07254	.	3.688240	0.00702	N	0.000787	T	0.76948	0.4059	N	0.22421	0.69	0.09310	N	1	D	0.53885	0.963	P	0.44359	0.447	T	0.67465	-0.5664	10	0.17369	T	0.5	0.23	2.0258	0.03519	0.1747:0.2503:0.4354:0.1396	.	363	Q9H3R2	MUC13_HUMAN	N	363	ENSP00000312235:S363N	ENSP00000312235:S363N	S	-	2	0	MUC13	126114771	0.000000	0.05858	0.000000	0.03702	0.442000	0.32017	-0.169000	0.09911	-0.549000	0.06191	0.462000	0.41574	AGT		0.468	MUC13-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000355714.1	NM_033049		T	124632081	C	T	124632081	3	4	811	1	0	0	0	0	1	0	0	0	9973	565	20	2	463	2	MUC13	3	124632081	Missense_Mutation	SNP	C	TCGA-UZ-A9Q0-01A-12D-A42J-10	3531717	124632081	73390349	15	48569											
ISY1	57461	hgsc.bcm.edu	37	3	128852942	128852942	+	Missense_Mutation	SNP	T	T	C			TCGA-UZ-A9Q0-01A-12D-A42J-10	TCGA-UZ-A9Q0-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1ade8c1b-f1d7-49ad-a7f1-d7b91dd79670	43bffa96-ab4f-4ba3-b15b-918e180d7be6	g.chr3:128852942T>C	ENST00000393295.3	-	9	955	c.638A>G	c.(637-639)aAc>aGc	p.N213S	ISY1-RAB43_ENST00000418265.1_Missense_Mutation_p.N213S|ISY1_ENST00000273541.8_Missense_Mutation_p.N235S|ISY1_ENST00000393292.3_Silent_p.Q214Q|ISY1_ENST00000471497.1_Intron	NM_001199469.1|NM_020701.3	NP_001186398.1|NP_065752.1	Q9ULR0	ISY1_HUMAN	ISY1 splicing factor homolog (S. cerevisiae)	213					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|skin(1)	15						TGCATAGATGTTGATctcttc	0.542																																																0													117	122	120					3																	128852942		2055	4200	6255	SO:0001583	missense	57461				CCDS43149.1, CCDS56277.1	3q21.3	2008-11-25			ENSG00000240682	ENSG00000240682			29201	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 33"	612764				16103217	Standard	NM_020701		Approved	KIAA1160, fSAP33		Q9ULR0	OTTHUMG00000137365	ENST00000393295.3:c.638A>G	chr3.hg19:g.128852942T>C	ENSP00000376973:p.Asn213Ser		Q96IL2|Q9BT05	Missense_Mutation	SNP	ENST00000393295.3	hg19	CCDS43149.1	.	.	.	.	.	.	.	.	.	.	T	14.97	2.694987	0.48202	.	.	ENSG00000240682	ENST00000418265;ENST00000393295;ENST00000273541	T	0.30182	1.54	5.64	5.64	0.86602	.	0.211897	0.49916	D	0.000137	T	0.23054	0.0557	L	0.33485	1.01	0.80722	D	1	B;B;B	0.18610	0.016;0.02;0.029	B;B;B	0.23852	0.049;0.044;0.045	T	0.07443	-1.0772	10	0.11794	T	0.64	.	12.2414	0.54544	0.0:0.0:0.0:1.0	.	235;213;213	Q9ULR0-2;Q9ULR0;Q9ULR0-1	.;ISY1_HUMAN;.	S	213;213;235	ENSP00000273541:N235S	ENSP00000273541:N235S	N	-	2	0	ISY1	130335632	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.228000	0.58619	2.141000	0.66446	0.477000	0.44152	AAC		0.542	ISY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267856.1	NM_020701		C	128852942	T	C	128852942	3	2	811	1	0	0	0	0	1	0	0	0	7868	1725	60	3	231	3	ISY1	3	128852942	Missense_Mutation	SNP	T	TCGA-UZ-A9Q0-01A-12D-A42J-10	4220861	128852942	69169488	16	48570											
HTR3D	200909	hgsc.bcm.edu	37	3	183756384	183756384	+	Silent	SNP	C	C	T			TCGA-UZ-A9Q0-01A-12D-A42J-10	TCGA-UZ-A9Q0-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1ade8c1b-f1d7-49ad-a7f1-d7b91dd79670	43bffa96-ab4f-4ba3-b15b-918e180d7be6	g.chr3:183756384C>T	ENST00000382489.3	+	7	1107	c.1107C>T	c.(1105-1107)ggC>ggT	p.G369G	HTR3D_ENST00000453435.1_Silent_p.G148G|HTR3D_ENST00000334128.2_Silent_p.G194G|HTR3D_ENST00000428798.2_Silent_p.G319G	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic	369					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Ergoloid mesylate(DB01049)	GAAATAAGGGCCCGGGTCTCA	0.657																																																0													27	32	30					3																	183756384		2202	4300	6502	SO:0001819	synonymous_variant	200909			AY159812	CCDS3249.1, CCDS46966.1, CCDS54685.1	3q27	2012-05-22	2012-02-03		ENSG00000186090	ENSG00000186090		"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	24004	protein-coding gene	gene with protein product		610122	"5-hydroxytryptamine (serotonin) receptor 3 family member D"			12801637	Standard	NM_001145143		Approved		uc011bqv.2	Q70Z44	OTTHUMG00000156858	ENST00000382489.3:c.1107C>T	chr3.hg19:g.183756384C>T			C9J2I6|J3QT78|Q495N5|Q495N6|Q7Z6B3	Silent	SNP	ENST00000382489.3	hg19	CCDS54685.1																																																																																				0.657	HTR3D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346289.1	NM_182537		T	183756384	C	T	183756384	2	4	811	1	0	0	0	0	0	0	0	1	7449	726	26	2		2	HTR3D	3	183756384	Silent	SNP	C	TCGA-UZ-A9Q0-01A-12D-A42J-10	54903442	183756384	14266046	17	48571											
FAM131A	131408	hgsc.bcm.edu	37	3	184062687	184062687	+	Missense_Mutation	SNP	C	C	A			TCGA-UZ-A9Q0-01A-12D-A42J-10	TCGA-UZ-A9Q0-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1ade8c1b-f1d7-49ad-a7f1-d7b91dd79670	43bffa96-ab4f-4ba3-b15b-918e180d7be6	g.chr3:184062687C>A	ENST00000310585.4	+	3	2301	c.937C>A	c.(937-939)Caa>Aaa	p.Q313K	FAM131A_ENST00000453072.1_Missense_Mutation_p.Q259K|FAM131A_ENST00000340957.5_Missense_Mutation_p.Q259K|FAM131A_ENST00000450976.1_Missense_Mutation_p.Q259K|EIF2B5_ENST00000444495.1_Intron|FAM131A_ENST00000383847.2_Missense_Mutation_p.Q344K|FAM131A_ENST00000418281.1_Intron			Q6UXB0	F131A_HUMAN	family with sequence similarity 131, member A	313						extracellular region (GO:0005576)				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1)	14	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ACGGCAGCGGCAAGCCTCTGA	0.632																																																0													23	19	21					3																	184062687		2200	4298	6498	SO:0001583	missense	131408			BC026221	CCDS3262.1, CCDS3262.2, CCDS54689.1	3q27.1	2007-03-20	2007-03-20	2007-03-20	ENSG00000175182	ENSG00000175182			28308	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 40"	C3orf40		12975309	Standard	NM_144635		Approved	MGC21688	uc003foe.3	Q6UXB0	OTTHUMG00000156206	ENST00000310585.4:c.937C>A	chr3.hg19:g.184062687C>A	ENSP00000310135:p.Gln313Lys		D3DNT6|G5E9B1|Q8TA84	Missense_Mutation	SNP	ENST00000310585.4	hg19		.	.	.	.	.	.	.	.	.	.	c	0.020	-1.434094	0.01108	.	.	ENSG00000175182	ENST00000450976;ENST00000340957;ENST00000383847;ENST00000453072;ENST00000310585	T;T;T;T;T	0.19394	2.15;2.15;2.15;2.15;2.15	4.63	2.58	0.30949	.	0.322570	0.28600	N	0.014777	T	0.06005	0.0156	N	0.01505	-0.83	0.31769	N	0.632341	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.26710	-1.0095	10	0.02654	T	1	-26.278	11.3787	0.49743	0.4075:0.5925:0.0:0.0	.	313;344	Q6UXB0;G5E9B1	F131A_HUMAN;.	K	259;259;344;259;313	ENSP00000388551:Q259K;ENSP00000340974:Q259K;ENSP00000373360:Q344K;ENSP00000390588:Q259K;ENSP00000310135:Q313K	ENSP00000310135:Q313K	Q	+	1	0	FAM131A	185545381	1.000000	0.71417	0.998000	0.56505	0.290000	0.27261	6.309000	0.72825	2.122000	0.65172	0.591000	0.81541	CAA		0.632	FAM131A-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000343462.1	NM_144635		A	184062687	C	A	184062687	3	1	811	1	0	0	0	0	1	0	0	0	5441	711	25	4	1052	4	FAM131A	3	184062687	Missense_Mutation	SNP	C	TCGA-UZ-A9Q0-01A-12D-A42J-10	306303	184062687	13959743	18	48572											
IDUA	3425	hgsc.bcm.edu	37	4	995927	995927	+	Missense_Mutation	SNP	C	C	T			TCGA-UZ-A9Q0-01A-12D-A42J-10	TCGA-UZ-A9Q0-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1ade8c1b-f1d7-49ad-a7f1-d7b91dd79670	43bffa96-ab4f-4ba3-b15b-918e180d7be6	g.chr4:995927C>T	ENST00000247933.4	+	7	1038	c.950C>T	c.(949-951)aCc>aTc	p.T317I	IDUA_ENST00000453894.1_Silent_p.D303D|IDUA_ENST00000514224.1_Missense_Mutation_p.T185I	NM_000203.3	NP_000194.2	P35475	IDUA_HUMAN	iduronidase, alpha-L-	317					carbohydrate metabolic process (GO:0005975)|cell morphogenesis (GO:0000902)|chemical homeostasis (GO:0048878)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate catabolic process (GO:0030209)|disaccharide metabolic process (GO:0005984)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|limb morphogenesis (GO:0035108)|lysosome organization (GO:0007040)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)	coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	L-iduronidase activity (GO:0003940)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GCGGACGTGACCTACGCGGCC	0.726																																																0													17	19	18					4																	995927		2143	4218	6361	SO:0001583	missense	3425			M74715	CCDS3343.1	4p16.3	2012-10-02			ENSG00000127415	ENSG00000127415	3.2.1.76		5391	protein-coding gene	gene with protein product		252800				1832239	Standard	NM_000203		Approved	MPS1	uc003gby.3	P35475	OTTHUMG00000088901	ENST00000247933.4:c.950C>T	chr4.hg19:g.995927C>T	ENSP00000247933:p.Thr317Ile		B3KWK6	Missense_Mutation	SNP	ENST00000247933.4	hg19	CCDS3343.1	.	.	.	.	.	.	.	.	.	.	C	17.69	3.451756	0.63290	.	.	ENSG00000127415	ENST00000247933;ENST00000514224	D;D	0.95035	-3.59;-3.59	4.91	4.91	0.64330	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.96821	0.8962	M	0.79805	2.47	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	D	0.95631	0.8689	10	0.22706	T	0.39	.	15.936	0.79707	0.0:1.0:0.0:0.0	.	317	P35475	IDUA_HUMAN	I	317;185	ENSP00000247933:T317I;ENSP00000425081:T185I	ENSP00000247933:T317I	T	+	2	0	IDUA	985927	1.000000	0.71417	0.993000	0.49108	0.033000	0.12548	4.700000	0.61803	2.450000	0.82876	0.561000	0.74099	ACC		0.726	IDUA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000201812.1	NM_000203		T	995927	C	T	995927	3	4	811	1	0	0	0	0	1	0	0	0	7506	507	18	2	976	2	IDUA	4	995927	Missense_Mutation	SNP	C	TCGA-UZ-A9Q0-01A-12D-A42J-10		995927	190158349	19	48573											
HTT	3064	hgsc.bcm.edu	37	4	3076668	3076668	+	Missense_Mutation	SNP	C	C	A			TCGA-UZ-A9Q0-01A-12D-A42J-10	TCGA-UZ-A9Q0-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1ade8c1b-f1d7-49ad-a7f1-d7b91dd79670	43bffa96-ab4f-4ba3-b15b-918e180d7be6	g.chr4:3076668C>A	ENST00000355072.5	+	1	261	c.116C>A	c.(115-117)cCg>cAg	p.P39Q	HTT-AS_ENST00000503893.1_RNA	NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	39	Poly-Pro.				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)		cagcaacagccgccaccgccg	0.726																																																0													1	2	2					4																	3076668		374	1244	1618	SO:0001583	missense	3064			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.116C>A	chr4.hg19:g.3076668C>A	ENSP00000347184:p.Pro39Gln		Q9UQB7	Missense_Mutation	SNP	ENST00000355072.5	hg19	CCDS43206.1	.	.	.	.	.	.	.	.	.	.	C	0.023	-1.397978	0.01175	.	.	ENSG00000197386	ENST00000355072	T	0.22743	1.94	1.58	1.58	0.23477	.	.	.	.	.	T	0.12518	0.0304	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.25710	-1.0124	9	0.32370	T	0.25	.	6.4693	0.21999	0.0:1.0:0.0:0.0	.	39	P42858	HD_HUMAN	Q	39	ENSP00000347184:P39Q	ENSP00000347184:P39Q	P	+	2	0	HTT	3046466	0.949000	0.32298	0.001000	0.08648	0.004000	0.04260	0.435000	0.21510	0.829000	0.34733	0.305000	0.20034	CCG		0.726	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		A	3076668	C	A	3076668	3	1	811	1	0	0	0	0	1	0	0	0	7459	652	23	4	118	4	HTT	4	3076668	Missense_Mutation	SNP	C	TCGA-UZ-A9Q0-01A-12D-A42J-10	2080741	3076668	188077608	20	48574											
SPINK5	11005	hgsc.bcm.edu	37	5	147484531	147484531	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9Q0-01A-12D-A42J-10	TCGA-UZ-A9Q0-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1ade8c1b-f1d7-49ad-a7f1-d7b91dd79670	43bffa96-ab4f-4ba3-b15b-918e180d7be6	g.chr5:147484531G>A	ENST00000256084.7	+	16	1489	c.1447G>A	c.(1447-1449)Gca>Aca	p.A483T	SPINK5_ENST00000359874.3_Missense_Mutation_p.A483T|SPINK5_ENST00000398454.1_Missense_Mutation_p.A483T	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	483	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)			AGAAGAAAGAGCAAGAGCAAA	0.358																																																0													90	91	90					5																	147484531		1808	4088	5896	SO:0001583	missense	11005			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.1447G>A	chr5.hg19:g.147484531G>A	ENSP00000256084:p.Ala483Thr		A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Missense_Mutation	SNP	ENST00000256084.7	hg19	CCDS43382.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.712874	0.48517	.	.	ENSG00000133710	ENST00000398454;ENST00000359874;ENST00000508733;ENST00000256084	T;T;T;T	0.03889	3.77;3.77;3.77;3.77	3.91	0.0124	0.14091	Proteinase inhibitor I1, Kazal (1);Protease inhibitor, Kazal-type (1);	0.480204	0.17596	N	0.168583	T	0.08492	0.0211	L	0.44542	1.39	0.23107	N	0.998281	D;P;D;D	0.76494	0.999;0.911;0.997;0.998	D;P;D;D	0.79108	0.992;0.55;0.98;0.966	T	0.30119	-0.9989	10	0.13108	T	0.6	-3.4513	3.0931	0.06301	0.3199:0.0:0.4907:0.1894	.	464;483;483;483	B4DWS3;Q9NQ38-3;Q9NQ38;Q9NQ38-2	.;.;ISK5_HUMAN;.	T	483;483;464;483	ENSP00000381472:A483T;ENSP00000352936:A483T;ENSP00000421519:A464T;ENSP00000256084:A483T	ENSP00000256084:A483T	A	+	1	0	SPINK5	147464724	1.000000	0.71417	0.925000	0.36789	0.678000	0.39670	1.527000	0.35975	-0.013000	0.14199	0.313000	0.20887	GCA		0.358	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2	NM_001127698		A	147484531	G	A	147484531	3	1	811	1	0	0	0	0	1	0	0	0	15067	971	34	2	1509	2	SPINK5	5	147484531	Missense_Mutation	SNP	G	TCGA-UZ-A9Q0-01A-12D-A42J-10		147484531	33430729	21	48575											
SLU7	10569	hgsc.bcm.edu	37	5	159831848	159831848	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UZ-A9Q0-01A-12D-A42J-10	TCGA-UZ-A9Q0-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1ade8c1b-f1d7-49ad-a7f1-d7b91dd79670	43bffa96-ab4f-4ba3-b15b-918e180d7be6	g.chr5:159831848C>A	ENST00000297151.4	-	14	1819	c.1432G>T	c.(1432-1434)Gaa>Taa	p.E478*		NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	SLU7 splicing factor homolog (S. cerevisiae)	478					alternative mRNA splicing, via spliceosome (GO:0000380)|cellular response to heat (GO:0034605)|intracellular protein transport (GO:0006886)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)	pre-mRNA 3'-splice site binding (GO:0030628)|second spliceosomal transesterification activity (GO:0000386)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	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)			TTCACAGATTCTTCCCCAGTT	0.378																																																0													73	72	72					5																	159831848		2202	4300	6502	SO:0001587	stop_gained	10569			AF101074	CCDS4352.1	5q33.3	2010-04-13			ENSG00000164609	ENSG00000164609			16939	protein-coding gene	gene with protein product	zinc knuckle motif containing	605974				10197984, 15728250	Standard	NM_006425		Approved	9G8	uc003lyg.3	O95391	OTTHUMG00000130324	ENST00000297151.4:c.1432G>T	chr5.hg19:g.159831848C>A	ENSP00000297151:p.Glu478*		D3DQK2|Q3LUJ0|Q3LUJ1|Q6RXQ5|Q96FM9	Nonsense_Mutation	SNP	ENST00000297151.4	hg19	CCDS4352.1	.	.	.	.	.	.	.	.	.	.	C	39	7.866543	0.98534	.	.	ENSG00000164609	ENST00000297151	.	.	.	5.68	4.81	0.61882	.	0.163071	0.53938	D	0.000051	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-1.6375	15.3992	0.74823	0.0:0.8614:0.1385:0.0	.	.	.	.	X	478	.	ENSP00000297151:E478X	E	-	1	0	SLU7	159764426	1.000000	0.71417	0.968000	0.41197	0.313000	0.28021	4.521000	0.60532	1.522000	0.49001	0.591000	0.81541	GAA		0.378	SLU7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252673.1	NM_006425		A	159831848	C	A	159831848	4	1	811	1	0	0	0	0	0	1	0	0	14761	922	32	4	340	4	SLU7	5	159831848	Nonsense_Mutation	SNP	C	TCGA-UZ-A9Q0-01A-12D-A42J-10	12347317	159831848	21083412	22	48576											
F12	2161	hgsc.bcm.edu	37	5	176831333	176831333	+	Silent	SNP	C	C	T			TCGA-UZ-A9Q0-01A-12D-A42J-10	TCGA-UZ-A9Q0-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1ade8c1b-f1d7-49ad-a7f1-d7b91dd79670	43bffa96-ab4f-4ba3-b15b-918e180d7be6	g.chr5:176831333C>T	ENST00000253496.3	-	9	930	c.882G>A	c.(880-882)caG>caA	p.Q294Q	F12_ENST00000514943.1_5'Flank	NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	294	Kringle. {ECO:0000255|PROSITE- ProRule:PRU00121}.				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)	p.Q294H(1)		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)	GGGTCTGGCACTGTGCCAGGT	0.692									Hereditary Angioedema		OREG0017088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	kidney(1)											17	21	20					5																	176831333		2200	4295	6495	SO:0001819	synonymous_variant	2161	Familial Cancer Database	HAE, type I-III, Hereditary Angioneurotic Edema, HANE,	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.882G>A	chr5.hg19:g.176831333C>T		1934	P78339	Silent	SNP	ENST00000253496.3	hg19	CCDS34302.1																																																																																				0.692	F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373217.1			T	176831333	C	T	176831333	2	4	811	1	0	0	0	0	0	0	0	1	5341	564	20	2		2	F12	5	176831333	Silent	SNP	C	TCGA-UZ-A9Q0-01A-12D-A42J-10	16999485	176831333	4083927	23	48577											
SCGN	10590	hgsc.bcm.edu	37	6	25665199	25665199	+	Missense_Mutation	SNP	A	A	C			TCGA-UZ-A9Q0-01A-12D-A42J-10	TCGA-UZ-A9Q0-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1ade8c1b-f1d7-49ad-a7f1-d7b91dd79670	43bffa96-ab4f-4ba3-b15b-918e180d7be6	g.chr6:25665199A>C	ENST00000377961.2	+	4	443	c.275A>C	c.(274-276)gAa>gCa	p.E92A	SCGN_ENST00000334979.6_3'UTR	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	92	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						TCTGAGGATGAAAACTTTCTT	0.478																																																0													161	140	147					6																	25665199		2203	4300	6503	SO:0001583	missense	10590			BC000336	CCDS4561.1	6p22.3-p22.1	2013-01-10			ENSG00000079689	ENSG00000079689		"EF-hand domain containing"	16941	protein-coding gene	gene with protein product	"calbindin-like"	609202				10811645	Standard	NM_006998		Approved	SECRET, DJ501N12.8, SEGN, CALBL	uc003nfb.3	O76038	OTTHUMG00000014409	ENST00000377961.2:c.275A>C	chr6.hg19:g.25665199A>C	ENSP00000367197:p.Glu92Ala		A8K0B2|Q5VV44|Q96QV7|Q9UJF6	Missense_Mutation	SNP	ENST00000377961.2	hg19	CCDS4561.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.147340	0.77888	.	.	ENSG00000079689	ENST00000377961	D	0.88431	-2.38	5.19	5.19	0.71726	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.92977	0.7765	M	0.78344	2.41	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94009	0.7282	10	0.72032	D	0.01	.	14.0409	0.64674	1.0:0.0:0.0:0.0	.	92	O76038	SEGN_HUMAN	A	92	ENSP00000367197:E92A	ENSP00000367197:E92A	E	+	2	0	SCGN	25773178	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.810000	0.75216	1.938000	0.56188	0.528000	0.53228	GAA		0.478	SCGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040067.1			C	25665199	A	C	25665199	3	2	811	1	0	0	0	0	1	0	0	0	13909	246	9	5	289	5	SCGN	6	25665199	Missense_Mutation	SNP	A	TCGA-UZ-A9Q0-01A-12D-A42J-10		25665199	145449868	24	48578											
HIST1H2AD	3013	hgsc.bcm.edu	37	6	26199103	26199103	+	Missense_Mutation	SNP	A	A	C			TCGA-UZ-A9Q0-01A-12D-A42J-10	TCGA-UZ-A9Q0-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1ade8c1b-f1d7-49ad-a7f1-d7b91dd79670	43bffa96-ab4f-4ba3-b15b-918e180d7be6	g.chr6:26199103A>C	ENST00000341023.1	-	1	368	c.369T>G	c.(367-369)agT>agG	p.S123R	HIST1H3D_ENST00000356476.2_5'Flank|HIST1H3D_ENST00000377831.5_5'UTR|HIST1H2BF_ENST00000359985.1_5'Flank	NM_021065.2	NP_066409.1	P20671	H2A1D_HUMAN	histone cluster 1, H2ad	123						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6		all_hematologic(11;0.196)				CCTTGTGGTGACTCTCAGTCT	0.478																																																0													117	103	107					6																	26199103		2203	4300	6503	SO:0001583	missense	3013			Z80776	CCDS4591.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196866	ENSG00000196866		"Histones / Replication-dependent"	4729	protein-coding gene	gene with protein product		602792	"H2A histone family, member G", "histone 1, H2ad"	H2AFG		9119399, 12408966	Standard	NM_021065		Approved	H2A/g, H2A.3	uc003ngw.4	P20671	OTTHUMG00000014437	ENST00000341023.1:c.369T>G	chr6.hg19:g.26199103A>C	ENSP00000341094:p.Ser123Arg		A0PK91|P57754|Q6FGY6	Missense_Mutation	SNP	ENST00000341023.1	hg19	CCDS4591.1	.	.	.	.	.	.	.	.	.	.	.	5.438	0.265913	0.10294	.	.	ENSG00000196866	ENST00000341023	T	0.40756	1.02	4.5	0.596	0.17496	Histone-fold (2);Histone H2A (1);	0.000000	0.51477	U	0.000097	T	0.08492	0.0211	N	0.10916	0.065	0.24754	N	0.992963	B	0.06786	0.001	B	0.04013	0.001	T	0.30765	-0.9967	10	0.51188	T	0.08	.	9.3362	0.38051	0.4304:0.0:0.5696:0.0	.	123	P20671	H2A1D_HUMAN	R	123	ENSP00000341094:S123R	ENSP00000341094:S123R	S	-	3	2	HIST1H2AD	26307082	0.996000	0.38824	0.997000	0.53966	0.146000	0.21551	0.211000	0.17474	-0.102000	0.12197	-0.726000	0.03593	AGT		0.478	HIST1H2AD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040100.1	NM_021065		C	26199103	A	C	26199103	3	2	811	1	0	0	0	0	1	0	0	0	7133	272	10	5	27	5	HIST1H2AD	6	26199103	Missense_Mutation	SNP	A	TCGA-UZ-A9Q0-01A-12D-A42J-10	533904	26199103	144915964	25	48579											
HSD17B8	7923	hgsc.bcm.edu	37	6	33173455	33173455	+	Silent	SNP	G	G	A			TCGA-UZ-A9Q0-01A-12D-A42J-10	TCGA-UZ-A9Q0-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1ade8c1b-f1d7-49ad-a7f1-d7b91dd79670	43bffa96-ab4f-4ba3-b15b-918e180d7be6	g.chr6:33173455G>A	ENST00000374662.3	+	5	546	c.519G>A	c.(517-519)aaG>aaA	p.K173K	RING1_ENST00000374656.4_5'Flank|HSD17B8_ENST00000469186.1_3'UTR|MIR219-1_ENST00000362166.1_RNA	NM_014234.4	NP_055049.1	Q92506	DHB8_HUMAN	hydroxysteroid (17-beta) dehydrogenase 8	173					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						CAGCATCCAAGGCTGGAGTGA	0.587																																																0													46	47	47					6																	33173455		1508	2707	4215	SO:0001819	synonymous_variant	7923			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.519G>A	chr6.hg19:g.33173455G>A			A6NLX7|Q5STP7|Q9UIQ1	Silent	SNP	ENST00000374662.3	hg19	CCDS4769.1																																																																																				0.587	HSD17B8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076196.1	NM_014234		A	33173455	G	A	33173455	2	1	811	1	0	0	0	0	0	0	0	1	7391	991	35	2		2	HSD17B8	6	33173455	Silent	SNP	G	TCGA-UZ-A9Q0-01A-12D-A42J-10	6974352	33173455	137941612	26	48580											
SYNE1	23345	hgsc.bcm.edu	37	6	152462387	152462387	+	Silent	SNP	C	C	T			TCGA-UZ-A9Q0-01A-12D-A42J-10	TCGA-UZ-A9Q0-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1ade8c1b-f1d7-49ad-a7f1-d7b91dd79670	43bffa96-ab4f-4ba3-b15b-918e180d7be6	g.chr6:152462387C>T	ENST00000367255.5	-	139	25798	c.25197G>A	c.(25195-25197)gaG>gaA	p.E8399E	SYNE1_ENST00000356820.4_Silent_p.E2923E|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000448038.1_Silent_p.E8351E|SYNE1_ENST00000354674.4_Silent_p.E577E|SYNE1_ENST00000423061.1_Silent_p.E8351E|SYNE1_ENST00000539504.1_Silent_p.E554E|SYNE1_ENST00000341594.5_Silent_p.E8011E|SYNE1_ENST00000265368.4_Silent_p.E8399E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8399					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)		CAGGAAGGCTCTCCTCTTCCT	0.478										HNSCC(10;0.0054)																																						0													180	152	162					6																	152462387		2203	4300	6503	SO:0001819	synonymous_variant	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.25197G>A	chr6.hg19:g.152462387C>T			E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	hg19	CCDS5236.2																																																																																				0.478	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		T	152462387	C	T	152462387	2	4	811	1	0	0	0	0	0	0	0	1	15450	912	32	2		2	SYNE1	6	152462387	Silent	SNP	C	TCGA-UZ-A9Q0-01A-12D-A42J-10	119288932	152462387	18652680	27	48581											
DFNA5	1687	hgsc.bcm.edu	37	7	24742409	24742409	+	Frame_Shift_Del	DEL	T	T	-			TCGA-UZ-A9Q0-01A-12D-A42J-10	TCGA-UZ-A9Q0-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1ade8c1b-f1d7-49ad-a7f1-d7b91dd79670	43bffa96-ab4f-4ba3-b15b-918e180d7be6	g.chr7:24742409delT	ENST00000342947.3	-	9	1652	c.1227delA	c.(1225-1227)aaafs	p.K409fs	DFNA5_ENST00000545231.1_Frame_Shift_Del_p.K245fs|DFNA5_ENST00000409775.3_Frame_Shift_Del_p.K409fs|DFNA5_ENST00000419307.1_Frame_Shift_Del_p.K245fs|DFNA5_ENST00000409970.1_Frame_Shift_Del_p.K245fs	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	409					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						TGATCTGGAGTTTGCAGCAAG	0.502																																					GBM(78;184 1250 20134 20900 23600)											0													117	111	113					7																	24742409		2203	4300	6503	SO:0001589	frameshift_variant	1687			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.1227delA	chr7.hg19:g.24742409delT	ENSP00000339587:p.Lys409fs		A4D156|B2RAX9|B3KT05|O14590|Q08AQ8|Q9UBV3	Frame_Shift_Del	DEL	ENST00000342947.3	hg19	CCDS5389.1																																																																																				0.502	DFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214060.2	NM_004403		-	24742409	T	-	24742409	7	5	811	1	0	1	0	1	0	0	0	0	4456	1722	60	0	271	0	DFNA5	7	24742409	Frame_Shift_Del	DEL	T	TCGA-UZ-A9Q0-01A-12D-A42J-10		24742409	134396254	28	48582											
SSPO	23145	hgsc.bcm.edu	37	7	149499004	149499004	+	RNA	SNP	C	C	T	rs376985175		TCGA-UZ-A9Q0-01A-12D-A42J-10	TCGA-UZ-A9Q0-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1ade8c1b-f1d7-49ad-a7f1-d7b91dd79670	43bffa96-ab4f-4ba3-b15b-918e180d7be6	g.chr7:149499004C>T	ENST00000378016.2	+	0	7456							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)			CTGTGACCTGCGGCCTGACTG	0.687													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17106	0.0		0.0	False		,,,				2504	0.0															0								C		1,4285		0,1,2142	26	28	27		7460	3.5	0	7		27	0,8482		0,0,4241	no	coding-notMod3	SSPO	NM_198455.2		0,1,6383	TT,TC,CC		0.0,0.0233,0.0078			149499004	1,12767	2143	4241	6384			23145			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		chr7.hg19:g.149499004C>T			Q76B61	Missense_Mutation	SNP	ENST00000378016.2	hg19																																																																																					0.687	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				T	149499004	C	T	149499004	1	4	811	0	1	0	0	0	0	0	0	0	15194	759	27	1		1	SSPO	7	149499004	RNA	SNP	C	TCGA-UZ-A9Q0-01A-12D-A42J-10	124756595	149499004	9639659	29	48583											
FPGS	2356	hgsc.bcm.edu	37	9	130570589	130570589	+	Splice_Site	SNP	C	C	A			TCGA-UZ-A9Q0-01A-12D-A42J-10	TCGA-UZ-A9Q0-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1ade8c1b-f1d7-49ad-a7f1-d7b91dd79670	43bffa96-ab4f-4ba3-b15b-918e180d7be6	g.chr9:130570589C>A	ENST00000373247.2	+	9	871	c.821C>A	c.(820-822)tCa>tAa	p.S274*	FPGS_ENST00000373225.3_Splice_Site_p.S224*|FPGS_ENST00000393706.2_Splice_Site_p.S248*|FPGS_ENST00000460181.1_3'UTR|FPGS_ENST00000373245.1_Splice_Site_p.S274*	NM_004957.4	NP_004948.4	Q05932	FOLC_HUMAN	folylpolyglutamate synthase	274					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)	CAGCAGATCTCAGTAAGTCTG	0.592																																																0													84	76	79					9																	130570589		2203	4300	6503	SO:0001630	splice_region_variant	2356				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.822+1C>A	chr9.hg19:g.130570589C>A			B3KPW4|B7Z2Z3|F5H0K6|Q5JU19|Q5JU22|Q6P2P6	Nonsense_Mutation	SNP	ENST00000373247.2	hg19	CCDS35148.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.709436	0.89018	.	.	ENSG00000136877	ENST00000373247;ENST00000373245;ENST00000393706;ENST00000373228;ENST00000373225;ENST00000431857	.	.	.	5.06	3.12	0.35913	.	0.769059	0.12103	N	0.499303	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	-8.0083	4.8255	0.13414	0.1505:0.62:0.1462:0.0833	.	.	.	.	X	274;274;248;274;224;224	.	ENSP00000362322:S224X	S	+	2	0	FPGS	129610410	0.000000	0.05858	0.996000	0.52242	0.900000	0.52787	0.615000	0.24329	1.084000	0.41184	0.462000	0.41574	TCA		0.592	FPGS-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054251.1		Nonsense_Mutation	A	130570589	C	A	130570589	5	1	811	1	0	0	0	0	0	0	1	0	6038	840	29	4	855	4	FPGS	9	130570589	Splice_Site	SNP	C	TCGA-UZ-A9Q0-01A-12D-A42J-10		130570589	10642842	30	48584											
PRKG1	5592	hgsc.bcm.edu	37	10	54053646	54053646	+	Missense_Mutation	SNP	G	G	T			TCGA-UZ-A9Q0-01A-12D-A42J-10	TCGA-UZ-A9Q0-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1ade8c1b-f1d7-49ad-a7f1-d7b91dd79670	43bffa96-ab4f-4ba3-b15b-918e180d7be6	g.chr10:54053646G>T	ENST00000401604.2	+	18	2196	c.2002G>T	c.(2002-2004)Gat>Tat	p.D668Y	PRKG1_ENST00000373985.1_Missense_Mutation_p.D656Y|PRKG1_ENST00000373975.2_Missense_Mutation_p.D386Y|PRKG1-AS1_ENST00000452247.2_RNA|PRKG1_ENST00000373980.4_Missense_Mutation_p.D683Y|PRKG1-AS1_ENST00000426785.2_RNA			Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	668	AGC-kinase C-terminal.				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)		CTCAGGATGGGATATAGACTT	0.443																																																0													153	136	142					10																	54053646		2203	4300	6503	SO:0001583	missense	5592				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.2002G>T	chr10.hg19:g.54053646G>T	ENSP00000384200:p.Asp668Tyr		A5YM56|B3KSF3|E2PU10|P14619|Q5JP05|Q5JSJ6|Q6P5T7	Missense_Mutation	SNP	ENST00000401604.2	hg19	CCDS44399.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.976705	0.74360	.	.	ENSG00000185532	ENST00000401604;ENST00000373985;ENST00000373980;ENST00000332193;ENST00000373975	T;T;T	0.72835	-0.69;-0.68;-0.69	5.99	5.99	0.97316	AGC-kinase, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.87653	0.6231	M	0.89163	3.01	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	0.88702	0.3216	10	0.87932	D	0	-21.0641	20.0728	0.97731	0.0:0.0:1.0:0.0	.	386;683;668	B3KSF3;Q13976-2;Q13976	.;.;KGP1_HUMAN	Y	668;656;683;386;280	ENSP00000384200:D668Y;ENSP00000363097:D656Y;ENSP00000363092:D683Y	ENSP00000327642:D386Y	D	+	1	0	PRKG1	53723652	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.840000	0.97914	0.655000	0.94253	GAT		0.443	PRKG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				T	54053646	G	T	54053646	3	4	811	1	0	0	0	0	1	0	0	0	12527	1174	41	4	2387	4	PRKG1	10	54053646	Missense_Mutation	SNP	G	TCGA-UZ-A9Q0-01A-12D-A42J-10		54053646	81481101	31	48585											
KIAA0913	23053	hgsc.bcm.edu	37	10	75548546	75548546	+	Frame_Shift_Del	DEL	T	T	-			TCGA-UZ-A9Q0-01A-12D-A42J-10	TCGA-UZ-A9Q0-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1ade8c1b-f1d7-49ad-a7f1-d7b91dd79670	43bffa96-ab4f-4ba3-b15b-918e180d7be6	g.chr10:75548546delT	ENST00000605216.1	+	2	544	c.327delT	c.(325-327)gctfs	p.A109fs	ZSWIM8_ENST00000603114.1_Frame_Shift_Del_p.A109fs|ZSWIM8_ENST00000604729.1_Frame_Shift_Del_p.A109fs|ZSWIM8_ENST00000398706.2_Frame_Shift_Del_p.A109fs|ZSWIM8_ENST00000604524.1_Frame_Shift_Del_p.A109fs	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	109							zinc ion binding (GO:0008270)										TCCGAATTGCTTTTTGGAGCT	0.527																																																0													71	69	70					10																	75548546		1931	4131	6062	SO:0001589	frameshift_variant	23053			BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"Zinc fingers, SWIM-type"	23528	protein-coding gene	gene with protein product			"KIAA0913"	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.327delT	chr10.hg19:g.75548546delT	ENSP00000474748:p.Ala109fs		B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Frame_Shift_Del	DEL	ENST00000605216.1	hg19																																																																																					0.527	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1	NM_001242487		-	75548546	T	-	75548546	7	5	811	1	0	1	0	1	0	0	0	0	8202	1596	56	0	333	0	KIAA0913	10	75548546	Frame_Shift_Del	DEL	T	TCGA-UZ-A9Q0-01A-12D-A42J-10	21494900	75548546	59986201	32	48586											
SMPD1	6609	hgsc.bcm.edu	37	11	6411941	6411941	+	Missense_Mutation	SNP	C	C	T	rs550365194|rs550067660|rs71467507|rs78250081|rs558809956|rs3838786	byFrequency	TCGA-UZ-A9Q0-01A-12D-A42J-10	TCGA-UZ-A9Q0-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1ade8c1b-f1d7-49ad-a7f1-d7b91dd79670	43bffa96-ab4f-4ba3-b15b-918e180d7be6	g.chr11:6411941C>T	ENST00000342245.4	+	1	281	c.113C>T	c.(112-114)gCg>gTg	p.A38V	SMPD1_ENST00000527275.1_Missense_Mutation_p.A38V|SMPD1_ENST00000533196.1_3'UTR|SMPD1_ENST00000356761.2_Missense_Mutation_p.A38V|SMPD1_ENST00000299397.3_Missense_Mutation_p.A38V	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid lysosomal	38					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)	ctggtgctggcgctggcgctg	0.711																																																0													11	14	13					11																	6411941		2185	4258	6443	SO:0001583	missense	6609			AB209775	CCDS31409.1, CCDS44531.1, CCDS31409.2	11p15.4-p15.1	2010-04-28	2008-02-04		ENSG00000166311	ENSG00000166311	3.1.4.12		11120	protein-coding gene	gene with protein product	"acid sphingomyelinase"	607608				1711683	Standard	NM_000543		Approved	ASM	uc001mcw.3	P17405	OTTHUMG00000165453	ENST00000342245.4:c.113C>T	chr11.hg19:g.6411941C>T	ENSP00000340409:p.Ala38Val		A8K8M3|E9PKS3|P17406|Q13811|Q16837|Q16841	Missense_Mutation	SNP	ENST00000342245.4	hg19	CCDS44531.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.234305	0.39498	.	.	ENSG00000166311	ENST00000299397;ENST00000356761;ENST00000342245;ENST00000527275	T;T;T;T	0.09723	2.95;2.95;2.95;2.95	4.54	-1.08	0.09936	.	.	.	.	.	T	0.04363	0.0120	N	0.08118	0	0.09310	N	1	B;B	0.15473	0.002;0.013	B;B	0.10450	0.002;0.005	T	0.47275	-0.9130	9	0.12103	T	0.63	.	6.8659	0.24093	0.0:0.5614:0.262:0.1766	.	38;38	E9PKS3;G3XAB5	.;.	V	38	ENSP00000299397:A38V;ENSP00000349203:A38V;ENSP00000340409:A38V;ENSP00000435350:A38V	ENSP00000299397:A38V	A	+	2	0	SMPD1	6368517	0.000000	0.05858	0.130000	0.21974	0.033000	0.12548	-2.110000	0.01334	-0.479000	0.06813	-1.305000	0.01319	GCG		0.711	SMPD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384205.1	NM_000543		T	6411941	C	T	6411941	3	4	811	1	0	0	0	0	1	0	0	0	14810	768	27	1	115	1	SMPD1	11	6411941	Missense_Mutation	SNP	C	TCGA-UZ-A9Q0-01A-12D-A42J-10		6411941	128594575	33	48587											
PLEKHA7	144100	hgsc.bcm.edu	37	11	16816490	16816490	+	Missense_Mutation	SNP	A	A	G			TCGA-UZ-A9Q0-01A-12D-A42J-10	TCGA-UZ-A9Q0-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1ade8c1b-f1d7-49ad-a7f1-d7b91dd79670	43bffa96-ab4f-4ba3-b15b-918e180d7be6	g.chr11:16816490A>G	ENST00000355661.3	-	18	2495	c.2485T>C	c.(2485-2487)Ttc>Ctc	p.F829L	PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.F829L|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.F829L			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	829					epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						AGAATTCTGAAGTTCTCTTTA	0.483																																																0													197	190	193					11																	16816490		2200	4294	6494	SO:0001583	missense	144100			BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"Pleckstrin homology (PH) domain containing"	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.2485T>C	chr11.hg19:g.16816490A>G	ENSP00000347883:p.Phe829Leu		B4DK33|B4DWC3|Q86VZ7	Missense_Mutation	SNP	ENST00000355661.3	hg19	CCDS31434.1	.	.	.	.	.	.	.	.	.	.	A	15.76	2.928012	0.52759	.	.	ENSG00000166689	ENST00000531066;ENST00000355661;ENST00000448080	T;T;T	0.17370	2.28;2.28;2.28	5.57	5.57	0.84162	.	0.210963	0.50627	D	0.000109	T	0.16471	0.0396	L	0.42245	1.32	0.41172	D	0.986176	B;B;B;B	0.20368	0.026;0.031;0.044;0.043	B;B;B;B	0.24541	0.036;0.05;0.024;0.054	T	0.06844	-1.0804	10	0.10636	T	0.68	-10.738	16.0108	0.80402	1.0:0.0:0.0:0.0	.	403;829;829;829	Q6IQ23-3;E9PKC0;Q6IQ23;Q6IQ23-2	.;.;PKHA7_HUMAN;.	L	829	ENSP00000435389:F829L;ENSP00000347883:F829L;ENSP00000416895:F829L	ENSP00000347883:F829L	F	-	1	0	PLEKHA7	16773066	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	8.870000	0.92336	2.242000	0.73789	0.482000	0.46254	TTC		0.483	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2	NM_175058		G	16816490	A	G	16816490	3	3	811	1	0	0	0	0	1	0	0	0	12063	72	3	3	904	3	PLEKHA7	11	16816490	Missense_Mutation	SNP	A	TCGA-UZ-A9Q0-01A-12D-A42J-10	10404549	16816490	118190026	34	48588											
ARFGAP2	84364	hgsc.bcm.edu	37	11	47198367	47198367	+	Missense_Mutation	SNP	A	A	G			TCGA-UZ-A9Q0-01A-12D-A42J-10	TCGA-UZ-A9Q0-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1ade8c1b-f1d7-49ad-a7f1-d7b91dd79670	43bffa96-ab4f-4ba3-b15b-918e180d7be6	g.chr11:47198367A>G	ENST00000524782.1	-	1	266	c.38T>C	c.(37-39)cTt>cCt	p.L13P	ARFGAP2_ENST00000319543.6_5'UTR|ARFGAP2_ENST00000419701.2_5'UTR|ARFGAP2_ENST00000426335.2_Missense_Mutation_p.L13P|ARFGAP2_ENST00000395449.3_5'UTR	NM_001242832.1|NM_032389.4	NP_001229761.1|NP_115765.2	Q8N6H7	ARFG2_HUMAN	ADP-ribosylation factor GTPase activating protein 2	13	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						CCTCTTAAAAAGAGTCTGGAT	0.652																																																0													52	55	54					11																	47198367		2201	4298	6499	SO:0001583	missense	84364			AK027482	CCDS7926.1, CCDS73283.1	11p11.2-p11.12	2012-10-05	2008-01-09	2008-01-09	ENSG00000149182	ENSG00000149182		"ADP-ribosylation factor GTPase activating proteins"	13504	protein-coding gene	gene with protein product		606908	"zinc finger protein 289, ID1 regulated"	ZNF289		11278321, 14690497	Standard	NM_032389		Approved	IRZ, Zfp289, FLJ14576	uc001ndt.3	Q8N6H7	OTTHUMG00000166773	ENST00000524782.1:c.38T>C	chr11.hg19:g.47198367A>G	ENSP00000434442:p.Leu13Pro		B4DX29|B7Z9M7|D3DQQ9|Q3LIF2|Q8N3I1|Q96SX7	Missense_Mutation	SNP	ENST00000524782.1	hg19	CCDS7926.1	.	.	.	.	.	.	.	.	.	.	A	32	5.139315	0.94560	.	.	ENSG00000149182	ENST00000426335;ENST00000524782;ENST00000526342;ENST00000527927;ENST00000525398;ENST00000525314;ENST00000528444;ENST00000530596	T;T;T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86	5.54	5.54	0.83059	.	0.251453	0.32533	N	0.005971	T	0.60996	0.2312	L	0.39467	1.215	0.80722	D	1	D;D;D;P	0.76494	0.998;0.999;0.999;0.874	D;D;D;P	0.76575	0.969;0.985;0.988;0.756	T	0.64283	-0.6444	10	0.87932	D	0	-3.7774	15.6714	0.77279	1.0:0.0:0.0:0.0	.	13;13;13;13	B7Z6H9;B3KV00;G5E9L0;Q8N6H7	.;.;.;ARFG2_HUMAN	P	13	ENSP00000400226:L13P;ENSP00000434442:L13P;ENSP00000437305:L13P;ENSP00000434433:L13P;ENSP00000431939:L13P;ENSP00000434809:L13P;ENSP00000431684:L13P;ENSP00000435488:L13P	ENSP00000400226:L13P	L	-	2	0	ARFGAP2	47154943	0.987000	0.35691	0.974000	0.42286	0.983000	0.72400	6.783000	0.75078	2.107000	0.64212	0.459000	0.35465	CTT		0.652	ARFGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391425.1	NM_032389		G	47198367	A	G	47198367	3	3	811	1	0	0	0	0	1	0	0	0	850	72	3	3	1591	3	ARFGAP2	11	47198367	Missense_Mutation	SNP	A	TCGA-UZ-A9Q0-01A-12D-A42J-10	30381877	47198367	87808149	35	48589											
BCL9L	283149	hgsc.bcm.edu	37	11	118772132	118772132	+	Missense_Mutation	SNP	T	T	C			TCGA-UZ-A9Q0-01A-12D-A42J-10	TCGA-UZ-A9Q0-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1ade8c1b-f1d7-49ad-a7f1-d7b91dd79670	43bffa96-ab4f-4ba3-b15b-918e180d7be6	g.chr11:118772132T>C	ENST00000334801.3	-	6	3284	c.2320A>G	c.(2320-2322)Atg>Gtg	p.M774V	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	774	Met-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		ttgacattcatgttcatgttG	0.597																																																0													170	97	122					11																	118772132		2200	4294	6494	SO:0001583	missense	283149			AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.2320A>G	chr11.hg19:g.118772132T>C	ENSP00000335320:p.Met774Val		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP	ENST00000334801.3	hg19	CCDS8403.1	.	.	.	.	.	.	.	.	.	.	T	12.07	1.827150	0.32329	.	.	ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000525300;ENST00000392849;ENST00000431085	T	0.78364	-1.17	5.24	4.12	0.48240	.	0.000000	0.64402	D	0.000011	T	0.69967	0.3170	L	0.42245	1.32	0.41065	D	0.985405	P;B	0.36837	0.571;0.435	B;B	0.39503	0.301;0.158	T	0.68606	-0.5364	10	0.32370	T	0.25	-11.8278	10.1544	0.42814	0.0:0.0794:0.0:0.9206	.	769;774	Q86UU0-2;Q86UU0	.;BCL9L_HUMAN	V	774;737;67;774;774	ENSP00000335320:M774V	ENSP00000335320:M774V	M	-	1	0	BCL9L	118277342	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.585000	0.60977	1.974000	0.57490	0.379000	0.24179	ATG		0.597	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		C	118772132	T	C	118772132	3	2	811	1	0	0	0	0	1	0	0	0	1382	1464	51	3	2191	3	BCL9L	11	118772132	Missense_Mutation	SNP	T	TCGA-UZ-A9Q0-01A-12D-A42J-10	71573765	118772132	16234384	36	48590											
NCAPD3	23310	hgsc.bcm.edu	37	11	134038058	134038058	+	Missense_Mutation	SNP	G	G	C			TCGA-UZ-A9Q0-01A-12D-A42J-10	TCGA-UZ-A9Q0-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1ade8c1b-f1d7-49ad-a7f1-d7b91dd79670	43bffa96-ab4f-4ba3-b15b-918e180d7be6	g.chr11:134038058G>C	ENST00000534548.2	-	27	3470	c.3406C>G	c.(3406-3408)Ctg>Gtg	p.L1136V		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1136					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)		CTGGCGTCCAGGTCCAGGGGT	0.493																																																0													89	80	83					11																	134038058		2201	4297	6498	SO:0001583	missense	23310			AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.3406C>G	chr11.hg19:g.134038058G>C	ENSP00000433681:p.Leu1136Val		A6NFS2|Q4KMQ9	Missense_Mutation	SNP	ENST00000534548.2	hg19	CCDS31723.1	.	.	.	.	.	.	.	.	.	.	g	8.791	0.930650	0.18131	.	.	ENSG00000151503	ENST00000534548;ENST00000527944;ENST00000530396	T;T	0.41758	0.99;0.99	5.52	3.25	0.37280	Armadillo-type fold (1);	0.321794	0.43416	D	0.000563	T	0.18923	0.0454	N	0.03608	-0.345	0.80722	D	1	B;B	0.16802	0.012;0.019	B;B	0.21151	0.033;0.02	T	0.04029	-1.0983	10	0.30078	T	0.28	-16.907	8.1785	0.31296	0.0:0.0704:0.2849:0.6447	.	1136;196	P42695;Q96FA6	CNDD3_HUMAN;.	V	1136;41;172	ENSP00000433681:L1136V;ENSP00000435173:L172V	ENSP00000432532:L41V	L	-	1	2	NCAPD3	133543268	1.000000	0.71417	0.996000	0.52242	0.523000	0.34469	1.122000	0.31295	0.430000	0.26230	0.586000	0.80456	CTG		0.493	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		C	134038058	G	C	134038058	3	2	811	1	0	0	0	0	1	0	0	0	10208	991	35	4	1126	4	NCAPD3	11	134038058	Missense_Mutation	SNP	G	TCGA-UZ-A9Q0-01A-12D-A42J-10	15265926	134038058	968458	37	48591											
KRT82	3888	hgsc.bcm.edu	37	12	52789833	52789833	+	Missense_Mutation	SNP	C	C	T	rs377127392		TCGA-UZ-A9Q0-01A-12D-A42J-10	TCGA-UZ-A9Q0-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1ade8c1b-f1d7-49ad-a7f1-d7b91dd79670	43bffa96-ab4f-4ba3-b15b-918e180d7be6	g.chr12:52789833C>T	ENST00000257974.2	-	7	1329	c.1252G>A	c.(1252-1254)Gcc>Acc	p.A418T	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	418	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)		CTGTAGGTGGCGATCTCGATG	0.602																																																0													80	74	76					12																	52789833		2203	4300	6503	SO:0001583	missense	3888			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.1252G>A	chr12.hg19:g.52789833C>T	ENSP00000257974:p.Ala418Thr			Missense_Mutation	SNP	ENST00000257974.2	hg19	CCDS8826.1	.	.	.	.	.	.	.	.	.	.	C	35	5.503534	0.96371	.	.	ENSG00000161850	ENST00000257974	D	0.90900	-2.75	4.93	4.93	0.64822	Filament (1);Intermediate filament protein, conserved site (1);	0.000000	0.48767	D	0.000169	D	0.95255	0.8461	M	0.77616	2.38	0.51233	D	0.999916	D	0.89917	1.0	D	0.75484	0.986	D	0.95515	0.8589	10	0.66056	D	0.02	.	18.3396	0.90300	0.0:1.0:0.0:0.0	.	418	Q9NSB4	KRT82_HUMAN	T	418	ENSP00000257974:A418T	ENSP00000257974:A418T	A	-	1	0	KRT82	51076100	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.724000	0.68500	2.566000	0.86566	0.561000	0.74099	GCC		0.602	KRT82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405189.1	NM_033033		T	52789833	C	T	52789833	3	4	811	1	0	0	0	0	1	0	0	0	8498	768	27	1	301	1	KRT82	12	52789833	Missense_Mutation	SNP	C	TCGA-UZ-A9Q0-01A-12D-A42J-10		52789833	81062062	38	48592											
RDH5	5959	hgsc.bcm.edu	37	12	56115699	56115699	+	Missense_Mutation	SNP	A	A	C			TCGA-UZ-A9Q0-01A-12D-A42J-10	TCGA-UZ-A9Q0-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1ade8c1b-f1d7-49ad-a7f1-d7b91dd79670	43bffa96-ab4f-4ba3-b15b-918e180d7be6	g.chr12:56115699A>C	ENST00000257895.5	+	3	689	c.537A>C	c.(535-537)aaA>aaC	p.K179N	RDH5_ENST00000548082.1_Missense_Mutation_p.K179N|RDH5_ENST00000553160.1_Intron|RP11-644F5.10_ENST00000550412.1_3'UTR|RDH5_ENST00000547072.1_Missense_Mutation_p.K82N	NM_001199771.1|NM_002905.3	NP_001186700.1|NP_002896.2	Q92781	RDH1_HUMAN	retinol dehydrogenase 5 (11-cis/9-cis)	179					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)	GTGTCTCCAAATTTGGCCTGG	0.627																																																0													25	27	26					12																	56115699		2203	4300	6503	SO:0001583	missense	5959			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.537A>C	chr12.hg19:g.56115699A>C	ENSP00000257895:p.Lys179Asn		O00179|Q8TAI2	Missense_Mutation	SNP	ENST00000257895.5	hg19	CCDS31829.1	.	.	.	.	.	.	.	.	.	.	A	14.75	2.627250	0.46944	.	.	ENSG00000135437	ENST00000547072;ENST00000257895;ENST00000548082	D;D;D	0.98958	-5.27;-5.27;-5.27	5.36	2.02	0.26589	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99339	0.9768	H	0.98466	4.24	0.51482	D	0.999926	D	0.89917	1.0	D	0.97110	1.0	D	0.98368	1.0552	10	0.87932	D	0	.	7.5049	0.27538	0.3471:0.0:0.6529:0.0	.	179	Q92781	RDH1_HUMAN	N	82;179;179	ENSP00000449927:K82N;ENSP00000257895:K179N;ENSP00000447128:K179N	ENSP00000257895:K179N	K	+	3	2	RDH5	54401966	1.000000	0.71417	1.000000	0.80357	0.057000	0.15508	1.727000	0.38095	0.738000	0.32606	-0.242000	0.12053	AAA		0.627	RDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407493.1	NM_002905		C	56115699	A	C	56115699	3	2	811	1	0	0	0	0	1	0	0	0	13201	98	4	5	543	5	RDH5	12	56115699	Missense_Mutation	SNP	A	TCGA-UZ-A9Q0-01A-12D-A42J-10	3325866	56115699	77736196	39	48593											
PAN2	9924	hgsc.bcm.edu	37	12	56720417	56720417	+	Missense_Mutation	SNP	A	A	G			TCGA-UZ-A9Q0-01A-12D-A42J-10	TCGA-UZ-A9Q0-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1ade8c1b-f1d7-49ad-a7f1-d7b91dd79670	43bffa96-ab4f-4ba3-b15b-918e180d7be6	g.chr12:56720417A>G	ENST00000425394.2	-	7	1622	c.1246T>C	c.(1246-1248)Tct>Cct	p.S416P	PAN2_ENST00000548043.1_Missense_Mutation_p.S416P|PAN2_ENST00000440411.3_Missense_Mutation_p.S416P|PAN2_ENST00000257931.5_Missense_Mutation_p.S416P	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	GCTGGAGCAGAGTTGGCAGCA	0.572																																																0													42	37	39					12																	56720417		2203	4299	6502	SO:0001583	missense	9924			AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"Ubiquitin-specific peptidases"	20074	protein-coding gene	gene with protein product	"PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"		"ubiquitin specific protease 52", "ubiquitin specific peptidase 52", "PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.1246T>C	chr12.hg19:g.56720417A>G	ENSP00000401721:p.Ser416Pro			Missense_Mutation	SNP	ENST00000425394.2	hg19	CCDS44922.1	.	.	.	.	.	.	.	.	.	.	A	14.28	2.488292	0.44249	.	.	ENSG00000135473	ENST00000425394;ENST00000440411;ENST00000257931;ENST00000548043	T;T;T;T	0.05717	3.4;3.4;3.4;3.4	5.08	3.91	0.45181	.	0.201660	0.45867	D	0.000336	T	0.05364	0.0142	N	0.17082	0.46	0.36821	D	0.886405	P;P;P	0.43885	0.82;0.727;0.733	B;B;B	0.43103	0.408;0.408;0.177	T	0.51116	-0.8746	10	0.34782	T	0.22	-11.6206	11.3926	0.49824	0.8479:0.152:0.0:0.0	.	416;416;416	Q504Q3-3;Q504Q3-2;Q504Q3	.;.;PAN2_HUMAN	P	416	ENSP00000401721:S416P;ENSP00000388231:S416P;ENSP00000257931:S416P;ENSP00000449861:S416P	ENSP00000257931:S416P	S	-	1	0	PAN2	55006684	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	2.711000	0.47177	1.033000	0.39918	0.477000	0.44152	TCT		0.572	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409024.1	NM_014871		G	56720417	A	G	56720417	3	3	811	1	0	0	0	0	1	0	0	0	11416	304	11	3	2442	3	PAN2	12	56720417	Missense_Mutation	SNP	A	TCGA-UZ-A9Q0-01A-12D-A42J-10	604718	56720417	77131478	40	48594											
ATP5B	506	hgsc.bcm.edu	37	12	57033773	57033773	+	Missense_Mutation	SNP	C	C	A			TCGA-UZ-A9Q0-01A-12D-A42J-10	TCGA-UZ-A9Q0-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1ade8c1b-f1d7-49ad-a7f1-d7b91dd79670	43bffa96-ab4f-4ba3-b15b-918e180d7be6	g.chr12:57033773C>A	ENST00000262030.3	-	8	1328	c.1278G>T	c.(1276-1278)aaG>aaT	p.K426N	ATP5B_ENST00000550162.1_5'UTR|ATP5B_ENST00000552919.1_Missense_Mutation_p.K415N	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide	426					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						CCTGCAGGATCTTTTGCACCC	0.478																																																0													80	71	74					12																	57033773		2203	4300	6503	SO:0001583	missense	506			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.1278G>T	chr12.hg19:g.57033773C>A	ENSP00000262030:p.Lys426Asn		A8K4X0|Q14283	Missense_Mutation	SNP	ENST00000262030.3	hg19	CCDS8924.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.403225	0.62288	.	.	ENSG00000110955	ENST00000262030;ENST00000552919;ENST00000552104	T;T;T	0.76839	-1.05;-1.05;-1.05	5.77	2.93	0.34026	ATPase, F1/V1/A1 complex, alpha/beta subunit, C-terminal (2);ATPase, F1 complex beta subunit/V1 complex, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.79592	0.4472	M	0.82923	2.615	0.58432	D	0.999999	B	0.20368	0.044	B	0.29077	0.098	T	0.74393	-0.3680	10	0.72032	D	0.01	-20.7654	11.5714	0.50836	0.0:0.7302:0.0:0.2698	.	426	P06576	ATPB_HUMAN	N	426;415;129	ENSP00000262030:K426N;ENSP00000450297:K415N;ENSP00000450233:K129N	ENSP00000262030:K426N	K	-	3	2	ATP5B	55320040	0.994000	0.37717	0.999000	0.59377	0.958000	0.62258	0.429000	0.21412	0.086000	0.17137	-0.797000	0.03246	AAG		0.478	ATP5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408380.1	NM_001686		A	57033773	C	A	57033773	3	1	811	1	0	0	0	0	1	0	0	0	1148	912	32	4	323	4	ATP5B	12	57033773	Missense_Mutation	SNP	C	TCGA-UZ-A9Q0-01A-12D-A42J-10	313356	57033773	76818122	41	48595											
SCYL2	55681	hgsc.bcm.edu	37	12	100717393	100717393	+	Missense_Mutation	SNP	T	T	A			TCGA-UZ-A9Q0-01A-12D-A42J-10	TCGA-UZ-A9Q0-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1ade8c1b-f1d7-49ad-a7f1-d7b91dd79670	43bffa96-ab4f-4ba3-b15b-918e180d7be6	g.chr12:100717393T>A	ENST00000360820.2	+	11	1923	c.1486T>A	c.(1486-1488)Tgt>Agt	p.C496S		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	496					endosome to lysosome transport (GO:0008333)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of receptor internalization (GO:0002092)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						TAAAAATGCTTGTCTACAAAC	0.308																																																0													83	79	81					12																	100717393		2203	4297	6500	SO:0001583	missense	55681			AB037781	CCDS9076.1	12q23.1	2005-01-20				ENSG00000136021			19286	protein-coding gene	gene with protein product						10718198	Standard	NM_017988		Approved	KIAA1360	uc001thn.3	Q6P3W7	OTTHUMG00000170319	ENST00000360820.2:c.1486T>A	chr12.hg19:g.100717393T>A	ENSP00000354061:p.Cys496Ser		A8KAB5|Q96EF4|Q96ST4|Q9H7V5|Q9NVH3|Q9P2I7	Missense_Mutation	SNP	ENST00000360820.2	hg19	CCDS9076.1	.	.	.	.	.	.	.	.	.	.	T	28.6	4.933340	0.92458	.	.	ENSG00000136021	ENST00000549687;ENST00000258506;ENST00000360820	T;T	0.32272	1.46;1.46	5.68	5.68	0.88126	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.54447	0.1859	M	0.78637	2.42	0.80722	D	1	D	0.59767	0.986	P	0.60886	0.88	T	0.58120	-0.7692	10	0.56958	D	0.05	.	16.2237	0.82280	0.0:0.0:0.0:1.0	.	496	Q6P3W7	SCYL2_HUMAN	S	496;323;496	ENSP00000448366:C496S;ENSP00000354061:C496S	ENSP00000258506:C323S	C	+	1	0	SCYL2	99241524	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.901000	0.87382	2.289000	0.77006	0.482000	0.46254	TGT		0.308	SCYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408493.2	NM_017988		A	100717393	T	A	100717393	3	1	811	1	0	0	0	0	1	0	0	0	13954	1812	63	5	1524	5	SCYL2	12	100717393	Missense_Mutation	SNP	T	TCGA-UZ-A9Q0-01A-12D-A42J-10	43683620	100717393	33134502	42	48596											
HPD	3242	hgsc.bcm.edu	37	12	122295709	122295709	+	Missense_Mutation	SNP	A	A	G			TCGA-UZ-A9Q0-01A-12D-A42J-10	TCGA-UZ-A9Q0-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1ade8c1b-f1d7-49ad-a7f1-d7b91dd79670	43bffa96-ab4f-4ba3-b15b-918e180d7be6	g.chr12:122295709A>G	ENST00000289004.4	-	3	82	c.47T>C	c.(46-48)tTc>tCc	p.F16S	HPD_ENST00000543163.1_5'UTR|RP11-7M8.2_ENST00000543848.1_RNA	NM_002150.2	NP_002141	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	16					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)	4-hydroxyphenylpyruvate dioxygenase activity (GO:0003868)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	GAAGTGGAGGAATCGGCCTCT	0.597																																																0													61	55	57					12																	122295709		2203	4300	6503	SO:0001583	missense	3242			BC014790	CCDS9224.1, CCDS53839.1	12q24.31	2013-09-19			ENSG00000158104	ENSG00000158104	1.13.11.27		5147	protein-coding gene	gene with protein product	"glyoxalase domain containing 3"	609695		PPD			Standard	NM_001171993		Approved	4-HPPD, 4HPPD, GLOD3	uc001ubj.3	P32754	OTTHUMG00000169081	ENST00000289004.4:c.47T>C	chr12.hg19:g.122295709A>G	ENSP00000289004:p.Phe16Ser		A8K461|B3KQ63|Q13234	Missense_Mutation	SNP	ENST00000289004.4	hg19	CCDS9224.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.002646	0.74932	.	.	ENSG00000158104	ENST00000289004;ENST00000545969	T	0.63417	-0.04	5.28	5.28	0.74379	.	0.200575	0.49916	D	0.000131	T	0.75583	0.3869	M	0.84082	2.675	0.80722	D	1	D	0.62365	0.991	P	0.59424	0.857	T	0.79225	-0.1891	10	0.72032	D	0.01	-30.6711	9.6882	0.40111	0.8256:0.1744:0.0:0.0	.	16	P32754	HPPD_HUMAN	S	16;13	ENSP00000289004:F16S	ENSP00000289004:F16S	F	-	2	0	HPD	120780092	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.648000	0.83479	2.107000	0.64212	0.533000	0.62120	TTC		0.597	HPD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402184.1	NM_002150		G	122295709	A	G	122295709	3	3	811	1	0	0	0	0	1	0	0	0	7334	246	9	3	1182	3	HPD	12	122295709	Missense_Mutation	SNP	A	TCGA-UZ-A9Q0-01A-12D-A42J-10	21578316	122295709	11556186	43	48597											
B3GNT4	79369	hgsc.bcm.edu	37	12	122691299	122691299	+	Silent	SNP	A	A	T			TCGA-UZ-A9Q0-01A-12D-A42J-10	TCGA-UZ-A9Q0-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1ade8c1b-f1d7-49ad-a7f1-d7b91dd79670	43bffa96-ab4f-4ba3-b15b-918e180d7be6	g.chr12:122691299A>T	ENST00000324189.4	+	3	857	c.501A>T	c.(499-501)ccA>ccT	p.P167P	B3GNT4_ENST00000545141.1_Intron|B3GNT4_ENST00000546192.1_Silent_p.P142P|B3GNT4_ENST00000535274.1_Silent_p.P142P	NM_030765.2	NP_110392.1	Q9C0J1	B3GN4_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4	167					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)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)		CCGCTCCCCCAGCCCAGCTGC	0.632																																																0													25	28	27					12																	122691299		2203	4300	6503	SO:0001819	synonymous_variant	79369			AB049586	CCDS9227.1	12q24	2013-02-19						"Beta 3-glycosyltransferases"	15683	protein-coding gene	gene with protein product		605864				11042166	Standard	NM_030765		Approved	B3GN-T4, beta3Gn-T4	uc001ubx.3	Q9C0J1		ENST00000324189.4:c.501A>T	chr12.hg19:g.122691299A>T			Q8N5W4|Q8N934|Q8ND21|Q8WWR5|Q8WY02|Q96QH5	Silent	SNP	ENST00000324189.4	hg19	CCDS9227.1																																																																																				0.632	B3GNT4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401595.1	NM_030765		T	122691299	A	T	122691299	2	4	811	1	0	0	0	0	0	0	0	1	1259	175	7	5		5	B3GNT4	12	122691299	Silent	SNP	A	TCGA-UZ-A9Q0-01A-12D-A42J-10	395590	122691299	11160596	44	48598											
GOLGA3	2802	hgsc.bcm.edu	37	12	133385055	133385055	+	Missense_Mutation	SNP	C	C	A			TCGA-UZ-A9Q0-01A-12D-A42J-10	TCGA-UZ-A9Q0-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1ade8c1b-f1d7-49ad-a7f1-d7b91dd79670	43bffa96-ab4f-4ba3-b15b-918e180d7be6	g.chr12:133385055C>A	ENST00000450791.2	-	4	783	c.600G>T	c.(598-600)agG>agT	p.R200S	GOLGA3_ENST00000204726.3_Missense_Mutation_p.R200S|GOLGA3_ENST00000456883.2_Missense_Mutation_p.R200S|GOLGA3_ENST00000537452.1_Missense_Mutation_p.R200S|GOLGA3_ENST00000545875.1_Missense_Mutation_p.R200S			Q08378	GOGA3_HUMAN	golgin A3	200	Golgi-targeting domain.				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)		GGGTACTGGCCCTTGGTAAGT	0.512																																																0													205	228	220					12																	133385055		2203	4300	6503	SO:0001583	missense	2802			AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"SY2/SY10 protein", "Golgi complex-associated protein of 170 kD"	602581	"golgi autoantigen, golgin subfamily a, 3"			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.600G>T	chr12.hg19:g.133385055C>A	ENSP00000410378:p.Arg200Ser		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	hg19	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.987682	0.74589	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61	5.34	0.246	0.15516	.	0.086607	0.85682	D	0.000000	T	0.42040	0.1185	M	0.66939	2.045	0.80722	D	1	D;P;D	0.64830	0.972;0.925;0.994	P;P;P	0.60068	0.742;0.621;0.868	T	0.27606	-1.0069	10	0.87932	D	0	.	6.2402	0.20787	0.1205:0.4387:0.0:0.4408	.	200;200;200	Q08378-4;Q08378-2;Q08378	.;.;GOGA3_HUMAN	S	200	ENSP00000204726:R200S;ENSP00000410378:R200S;ENSP00000409303:R200S;ENSP00000442143:R200S;ENSP00000442603:R200S	ENSP00000204726:R200S	R	-	3	2	GOLGA3	131895128	0.974000	0.33945	0.998000	0.56505	0.895000	0.52256	0.129000	0.15830	0.060000	0.16281	0.585000	0.79938	AGG		0.512	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		A	133385055	C	A	133385055	3	1	811	1	0	0	0	0	1	0	0	0	6556	622	22	4	4114	4	GOLGA3	12	133385055	Missense_Mutation	SNP	C	TCGA-UZ-A9Q0-01A-12D-A42J-10	10693756	133385055	466840	45	48599											
COG3	83548	hgsc.bcm.edu	37	13	46066332	46066332	+	Missense_Mutation	SNP	G	G	T			TCGA-UZ-A9Q0-01A-12D-A42J-10	TCGA-UZ-A9Q0-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1ade8c1b-f1d7-49ad-a7f1-d7b91dd79670	43bffa96-ab4f-4ba3-b15b-918e180d7be6	g.chr13:46066332G>T	ENST00000349995.5	+	11	1246	c.1134G>T	c.(1132-1134)caG>caT	p.Q378H	COG3_ENST00000465942.1_3'UTR	NM_031431.3	NP_113619	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3	378					ER to Golgi vesicle-mediated transport (GO:0006888)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		ATGTCTGCCAGGATGAACACC	0.373																																					Ovarian(150;1048 1859 18083 21577 42700)											0													195	157	170					13																	46066332		2203	4300	6503	SO:0001583	missense	83548			AF131829	CCDS9398.1	13q14.11	2008-02-05			ENSG00000136152	ENSG00000136152		"Components of oligomeric golgi complex"	18619	protein-coding gene	gene with protein product		606975				11980916	Standard	NM_031431		Approved	SEC34	uc001vak.3	Q96JB2	OTTHUMG00000016855	ENST00000349995.5:c.1134G>T	chr13.hg19:g.46066332G>T	ENSP00000258654:p.Gln378His		B2RAW5|Q5VT70|Q8IXX4|Q9BZ92	Missense_Mutation	SNP	ENST00000349995.5	hg19	CCDS9398.1	.	.	.	.	.	.	.	.	.	.	g	13.99	2.401591	0.42613	.	.	ENSG00000136152	ENST00000349995	T	0.48201	0.82	5.87	1.67	0.24075	.	0.000000	0.85682	D	0.000000	T	0.57475	0.2056	M	0.63843	1.955	0.80722	D	1	B;D;P	0.71674	0.052;0.998;0.539	B;P;B	0.61940	0.035;0.896;0.188	T	0.53315	-0.8456	10	0.31617	T	0.26	-12.2902	10.952	0.47334	0.3066:0.0:0.6934:0.0	.	215;378;378	B4E2F3;Q96JB2;Q96JB2-2	.;COG3_HUMAN;.	H	378	ENSP00000258654:Q378H	ENSP00000258654:Q378H	Q	+	3	2	COG3	44964333	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.694000	0.47035	0.386000	0.24997	-0.119000	0.15052	CAG		0.373	COG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044777.2			T	46066332	G	T	46066332	3	4	811	1	0	0	0	0	1	0	0	0	3661	991	35	4	1176	4	COG3	13	46066332	Missense_Mutation	SNP	G	TCGA-UZ-A9Q0-01A-12D-A42J-10		46066332	69103546	46	48600											
ACTR10	55860	hgsc.bcm.edu	37	14	58675768	58675768	+	Silent	SNP	A	A	G			TCGA-UZ-A9Q0-01A-12D-A42J-10	TCGA-UZ-A9Q0-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1ade8c1b-f1d7-49ad-a7f1-d7b91dd79670	43bffa96-ab4f-4ba3-b15b-918e180d7be6	g.chr14:58675768A>G	ENST00000254286.4	+	4	365	c.285A>G	c.(283-285)gtA>gtG	p.V95V		NM_018477.2	NP_060947.1	Q9NZ32	ARP10_HUMAN	actin-related protein 10 homolog (S. cerevisiae)	95					microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|dynactin complex (GO:0005869)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						TCGAATCGGTATTATGTCCTT	0.328																																																0													122	123	122					14																	58675768		2203	4300	6503	SO:0001819	synonymous_variant	55860			AF220190	CCDS32090.1	14q23.1	2014-08-08			ENSG00000131966	ENSG00000131966			17372	protein-coding gene	gene with protein product						12857853	Standard	NM_018477		Approved	HARP11, ACTR11, Arp11	uc001xdf.3	Q9NZ32	OTTHUMG00000171049	ENST00000254286.4:c.285A>G	chr14.hg19:g.58675768A>G			Q9H9Y5|Q9NWY2	Silent	SNP	ENST00000254286.4	hg19	CCDS32090.1																																																																																				0.328	ACTR10-002	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411405.1			G	58675768	A	G	58675768	2	3	811	1	0	0	0	0	0	0	0	1	208	436	16	3		3	ACTR10	14	58675768	Silent	SNP	A	TCGA-UZ-A9Q0-01A-12D-A42J-10		58675768	48673772	47	48601											
SNAPC1	6617	hgsc.bcm.edu	37	14	62229244	62229244	+	Silent	SNP	C	C	T			TCGA-UZ-A9Q0-01A-12D-A42J-10	TCGA-UZ-A9Q0-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1ade8c1b-f1d7-49ad-a7f1-d7b91dd79670	43bffa96-ab4f-4ba3-b15b-918e180d7be6	g.chr14:62229244C>T	ENST00000216294.4	+	1	170	c.66C>T	c.(64-66)gaC>gaT	p.D22D	RP11-618G20.1_ENST00000555937.1_RNA	NM_003082.3	NP_003073.1	Q16533	SNPC1_HUMAN	small nuclear RNA activating complex, polypeptide 1, 43kDa	22	SNAPC3-binding.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)		AGGAGACGGACAGTGTACGCT	0.642																																					NSCLC(27;223 907 37180 39193 46568)											0													124	116	119					14																	62229244		2203	4300	6503	SO:0001819	synonymous_variant	6617			Z47542	CCDS9755.1	14q22	2008-08-11	2002-08-29		ENSG00000023608	ENSG00000023608			11134	protein-coding gene	gene with protein product		600591	"small nuclear RNA activating complex, polypeptide 1, 43kD"			9644240	Standard	NM_003082		Approved	SNAP43, PTFgamma	uc001xft.3	Q16533	OTTHUMG00000140343	ENST00000216294.4:c.66C>T	chr14.hg19:g.62229244C>T				Silent	SNP	ENST00000216294.4	hg19	CCDS9755.1																																																																																				0.642	SNAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276976.2	NM_003082		T	62229244	C	T	62229244	2	4	811	1	0	0	0	0	0	0	0	1	14840	477	17	2		2	SNAPC1	14	62229244	Silent	SNP	C	TCGA-UZ-A9Q0-01A-12D-A42J-10	3553476	62229244	45120296	48	48602											
SYNE2	23224	hgsc.bcm.edu	37	14	64595265	64595265	+	Silent	SNP	G	G	A			TCGA-UZ-A9Q0-01A-12D-A42J-10	TCGA-UZ-A9Q0-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1ade8c1b-f1d7-49ad-a7f1-d7b91dd79670	43bffa96-ab4f-4ba3-b15b-918e180d7be6	g.chr14:64595265G>A	ENST00000344113.4	+	74	14225	c.14013G>A	c.(14011-14013)caG>caA	p.Q4671Q	SYNE2_ENST00000555002.1_Silent_p.Q1305Q|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000357395.3_Silent_p.Q1056Q|SYNE2_ENST00000394768.2_Silent_p.Q1056Q|SYNE2_ENST00000358025.3_Silent_p.Q4671Q|SYNE2_ENST00000554584.1_Intron	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4671					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)		TTGCTGAACAGCTTCAGGTAA	0.368																																																0													86	84	84					14																	64595265		2203	4300	6503	SO:0001819	synonymous_variant	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.14013G>A	chr14.hg19:g.64595265G>A			Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	hg19	CCDS41963.1																																																																																				0.368	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		A	64595265	G	A	64595265	2	1	811	1	0	0	0	0	0	0	0	1	15451	962	34	2		2	SYNE2	14	64595265	Silent	SNP	G	TCGA-UZ-A9Q0-01A-12D-A42J-10	2366021	64595265	42754275	49	48603											
GPHN	10243	hgsc.bcm.edu	37	14	67646373	67646373	+	Missense_Mutation	SNP	C	C	A			TCGA-UZ-A9Q0-01A-12D-A42J-10	TCGA-UZ-A9Q0-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1ade8c1b-f1d7-49ad-a7f1-d7b91dd79670	43bffa96-ab4f-4ba3-b15b-918e180d7be6	g.chr14:67646373C>A	ENST00000315266.5	+	21	3180	c.2059C>A	c.(2059-2061)Cct>Act	p.P687T	GPHN_ENST00000543237.1_Missense_Mutation_p.P733T|GPHN_ENST00000478722.1_Missense_Mutation_p.P720T|GPHN_ENST00000305960.9_Missense_Mutation_p.P656T|GPHN_ENST00000544752.2_3'UTR	NM_001024218.1	NP_001019389.1	Q9NQX3	GEPH_HUMAN	gephyrin	687	MPT adenylyltransferase.				establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycine receptor clustering (GO:0072579)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|molybdopterin adenylyltransferase activity (GO:0061598)|molybdopterin molybdotransferase activity (GO:0061599)|transferase activity (GO:0016740)			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		AGAACCACTACCTTGGGCACA	0.368			T	MLL	AL																																		Dom	yes		14	14q24	10243	gephyrin (GPH)		L	0													124	103	110					14																	67646373		2203	4300	6503	SO:0001583	missense	10243			AB037806	CCDS9777.1, CCDS32103.1	14q23.3	2008-04-22			ENSG00000171723	ENSG00000171723			15465	protein-coding gene	gene with protein product		603930				1319186, 10325225, 18403029	Standard	XM_005267250		Approved	KIAA1385	uc001xix.3	Q9NQX3	OTTHUMG00000029785	ENST00000315266.5:c.2059C>A	chr14.hg19:g.67646373C>A	ENSP00000312771:p.Pro687Thr		Q9H4E9|Q9P2G2	Missense_Mutation	SNP	ENST00000315266.5	hg19	CCDS32103.1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.599845	0.66332	.	.	ENSG00000171723	ENST00000315266;ENST00000478722;ENST00000543237;ENST00000305960	.	.	.	5.79	5.79	0.91817	MoeA, C-terminal, domain IV (3);	0.000000	0.85682	D	0.000000	D	0.83885	0.5351	M	0.86028	2.79	0.80722	D	1	D;D;D;D	0.71674	0.998;0.997;0.989;0.994	D;D;D;D	0.74023	0.982;0.97;0.964;0.961	T	0.82086	-0.0631	9	0.33940	T	0.23	-6.8827	20.0417	0.97594	0.0:1.0:0.0:0.0	.	656;733;687;720	F8W7D6;F5H039;Q9NQX3;Q9NQX3-2	.;.;GEPH_HUMAN;.	T	687;720;733;656	.	ENSP00000303019:P656T	P	+	1	0	GPHN	66716126	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.734000	0.84928	2.736000	0.93811	0.655000	0.94253	CCT		0.368	GPHN-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000074299.2	NM_020806		A	67646373	C	A	67646373	3	1	811	1	0	0	0	0	1	0	0	0	6612	507	18	4	2244	4	GPHN	14	67646373	Missense_Mutation	SNP	C	TCGA-UZ-A9Q0-01A-12D-A42J-10	3051108	67646373	39703167	50	48604											
C14orf115	55237	hgsc.bcm.edu	37	14	74824607	74824607	+	Missense_Mutation	SNP	T	T	A			TCGA-UZ-A9Q0-01A-12D-A42J-10	TCGA-UZ-A9Q0-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1ade8c1b-f1d7-49ad-a7f1-d7b91dd79670	43bffa96-ab4f-4ba3-b15b-918e180d7be6	g.chr14:74824607T>A	ENST00000256362.4	+	2	1362	c.1121T>A	c.(1120-1122)cTa>cAa	p.L374Q		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	374					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						ATGGAGGAGCTAGAGAAGCTG	0.637																																																0													41	40	41					14																	74824607		2203	4300	6503	SO:0001583	missense	55237			AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 115", "vertebrae development homolog (pig)"	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.1121T>A	chr14.hg19:g.74824607T>A	ENSP00000256362:p.Leu374Gln		Q9NVC7	Missense_Mutation	SNP	ENST00000256362.4	hg19	CCDS9830.1	.	.	.	.	.	.	.	.	.	.	T	11.39	1.625234	0.28889	.	.	ENSG00000133980	ENST00000256362	T	0.47177	0.85	4.53	2.07	0.26955	.	0.926239	0.09176	N	0.838183	T	0.30823	0.0777	N	0.24115	0.695	0.24060	N	0.996016	B	0.15473	0.013	B	0.08055	0.003	T	0.29458	-1.0011	10	0.72032	D	0.01	-8.4468	3.2816	0.06917	0.1707:0.2001:0.0:0.6292	.	374	Q9H8Y1	VRTN_HUMAN	Q	374	ENSP00000256362:L374Q	ENSP00000256362:L374Q	L	+	2	0	VRTN	73894360	0.947000	0.32204	0.681000	0.30009	0.154000	0.21943	0.153000	0.16323	0.238000	0.21222	0.459000	0.35465	CTA		0.637	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412339.1	NM_018228		A	74824607	T	A	74824607	3	1	811	1	0	0	0	0	1	0	0	0	1742	1522	53	5	1123	5	C14orf115	14	74824607	Missense_Mutation	SNP	T	TCGA-UZ-A9Q0-01A-12D-A42J-10	7178234	74824607	32524933	51	48605											
PLA2G4E	123745	hgsc.bcm.edu	37	15	42298282	42298282	+	Missense_Mutation	SNP	A	A	G			TCGA-UZ-A9Q0-01A-12D-A42J-10	TCGA-UZ-A9Q0-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1ade8c1b-f1d7-49ad-a7f1-d7b91dd79670	43bffa96-ab4f-4ba3-b15b-918e180d7be6	g.chr15:42298282A>G	ENST00000399518.3	-	4	917	c.431T>C	c.(430-432)gTg>gCg	p.V144A	CTD-2382E5.2_ENST00000552704.1_RNA|PLA2G4E_ENST00000413860.2_Missense_Mutation_p.V115A	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	126					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)		ATCTGGTGTCACTGTGTCTTC	0.507																																																0													133	140	138					15																	42298282		2138	4259	6397	SO:0001583	missense	123745				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.431T>C	chr15.hg19:g.42298282A>G	ENSP00000382434:p.Val144Ala		Q6ZSC0	Missense_Mutation	SNP	ENST00000399518.3	hg19	CCDS55962.1	.	.	.	.	.	.	.	.	.	.	A	15.16	2.750182	0.49257	.	.	ENSG00000188089	ENST00000399518;ENST00000413860	T;T	0.40476	1.03;2.9	5.66	5.66	0.87406	.	1.275240	0.06088	U	0.663186	T	0.48502	0.1503	M	0.67517	2.055	0.19775	N	0.999954	B	0.29232	0.238	B	0.35353	0.201	T	0.43861	-0.9365	10	0.41790	T	0.15	-0.4635	8.9392	0.35720	0.735:0.0:0.0:0.265	.	115	C9JK77	.	A	144;115	ENSP00000382434:V144A;ENSP00000413897:V115A	ENSP00000382434:V144A	V	-	2	0	PLA2G4E	40085574	0.205000	0.23458	0.884000	0.34674	0.976000	0.68499	2.142000	0.42177	2.153000	0.67306	0.460000	0.39030	GTG		0.507	PLA2G4E-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252738.2	NM_198442		G	42298282	A	G	42298282	3	3	811	1	0	0	0	0	1	0	0	0	12007	159	6	3	2243	3	PLA2G4E	15	42298282	Missense_Mutation	SNP	A	TCGA-UZ-A9Q0-01A-12D-A42J-10		42298282	60233110	52	48606											
SLC24A1	9187	hgsc.bcm.edu	37	15	65943100	65943100	+	Silent	SNP	A	A	G	rs574760946		TCGA-UZ-A9Q0-01A-12D-A42J-10	TCGA-UZ-A9Q0-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1ade8c1b-f1d7-49ad-a7f1-d7b91dd79670	43bffa96-ab4f-4ba3-b15b-918e180d7be6	g.chr15:65943100A>G	ENST00000261892.6	+	7	2900	c.2613A>G	c.(2611-2613)gaA>gaG	p.E871E	SLC24A1_ENST00000546330.1_Silent_p.E853E|SLC24A1_ENST00000449142.2_3'UTR|SLC24A1_ENST00000544319.2_Silent_p.E757E|SLC24A1_ENST00000537259.1_Silent_p.E853E|SLC24A1_ENST00000399033.4_Silent_p.E871E|SLC24A1_ENST00000339868.6_Silent_p.E853E	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	871	Poly-Glu.				calcium ion transport (GO:0006816)|ion transport (GO:0006811)|phototransduction, visible light (GO:0007603)|response to light intensity (GO:0009642)|rhodopsin mediated signaling pathway (GO:0016056)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						agcaggaggaagaggaggagg	0.547																																																0													28	32	30					15																	65943100		2182	4274	6456	SO:0001819	synonymous_variant	9187			AF062922	CCDS45284.1, CCDS73742.1, CCDS73743.1, CCDS73744.1	15q22.31	2014-01-28			ENSG00000074621	ENSG00000074621		"Solute carriers"	10975	protein-coding gene	gene with protein product		603617				9856482	Standard	NM_004727		Approved	NCKX1, NCKX, RODX, KIAA0702, HsT17412, CSNB1D	uc010ujf.2	O60721	OTTHUMG00000167960	ENST00000261892.6:c.2613A>G	chr15.hg19:g.65943100A>G			O43485|O75184|Q17RM9	Silent	SNP	ENST00000261892.6	hg19	CCDS45284.1																																																																																				0.547	SLC24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397304.1	NM_004727		G	65943100	A	G	65943100	2	3	811	1	0	0	0	0	0	0	0	1	14471	69	3	3		3	SLC24A1	15	65943100	Silent	SNP	A	TCGA-UZ-A9Q0-01A-12D-A42J-10	23644818	65943100	36588292	53	48607											
NR2F2	7026	hgsc.bcm.edu	37	15	96875660	96875660	+	Missense_Mutation	SNP	G	G	T			TCGA-UZ-A9Q0-01A-12D-A42J-10	TCGA-UZ-A9Q0-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1ade8c1b-f1d7-49ad-a7f1-d7b91dd79670	43bffa96-ab4f-4ba3-b15b-918e180d7be6	g.chr15:96875660G>T	ENST00000394166.3	+	1	1715	c.326G>T	c.(325-327)aGg>aTg	p.R109M	NR2F2_ENST00000394171.2_5'Flank|MIR1469_ENST00000410719.1_RNA|NR2F2_ENST00000453270.2_5'Flank|NR2F2_ENST00000421109.2_Intron	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	109					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)			AGCGTGCGGAGGAACCTGAGC	0.607																																																0													83	69	73					15																	96875660		2197	4298	6495	SO:0001583	missense	7026			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.326G>T	chr15.hg19:g.96875660G>T	ENSP00000377721:p.Arg109Met		B4DQJ2|B6ZGU1|Q03754|Q3KQR7	Missense_Mutation	SNP	ENST00000394166.3	hg19	CCDS10375.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.687254	0.88639	.	.	ENSG00000185551	ENST00000394166	D	0.97455	-4.39	4.61	4.61	0.57282	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (4);	0.000000	0.64402	D	0.000001	D	0.98096	0.9372	M	0.73319	2.225	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99327	1.0908	10	0.87932	D	0	.	16.0226	0.80509	0.0:0.0:1.0:0.0	.	109	P24468	COT2_HUMAN	M	109	ENSP00000377721:R109M	ENSP00000377721:R109M	R	+	2	0	NR2F2	94676664	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.728000	0.74769	2.097000	0.63578	0.462000	0.41574	AGG		0.607	NR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313534.1			T	96875660	G	T	96875660	3	4	811	1	0	0	0	0	1	0	0	0	10630	1000	35	4	375	4	NR2F2	15	96875660	Missense_Mutation	SNP	G	TCGA-UZ-A9Q0-01A-12D-A42J-10	30932560	96875660	5655732	54	48608											
NTN3	4917	hgsc.bcm.edu	37	16	2522514	2522514	+	Missense_Mutation	SNP	A	A	C			TCGA-UZ-A9Q0-01A-12D-A42J-10	TCGA-UZ-A9Q0-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1ade8c1b-f1d7-49ad-a7f1-d7b91dd79670	43bffa96-ab4f-4ba3-b15b-918e180d7be6	g.chr16:2522514A>C	ENST00000293973.1	+	1	1015	c.812A>C	c.(811-813)cAc>cCc	p.H271P	TBC1D24_ENST00000567020.1_5'Flank|TBC1D24_ENST00000293970.5_5'Flank	NM_006181.2	NP_006172.1	O00634	NET3_HUMAN	netrin 3	271	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				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						ACACAGGGCCACCTGATCTGC	0.677																																																0													33	32	32					16																	2522514		2195	4291	6486	SO:0001583	missense	4917			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.812A>C	chr16.hg19:g.2522514A>C	ENSP00000293973:p.His271Pro			Missense_Mutation	SNP	ENST00000293973.1	hg19	CCDS10469.1	.	.	.	.	.	.	.	.	.	.	A	9.869	1.198347	0.22037	.	.	ENSG00000162068	ENST00000293973	T	0.61158	0.13	4.09	-0.489	0.12052	EGF-like, laminin (3);	0.412612	0.24350	N	0.039292	T	0.34832	0.0911	N	0.21240	0.645	0.28172	N	0.928542	P	0.42357	0.777	B	0.35655	0.207	T	0.29150	-1.0021	10	0.44086	T	0.13	.	8.7149	0.34405	0.5211:0.0:0.4789:0.0	.	271	O00634	NET3_HUMAN	P	271	ENSP00000293973:H271P	ENSP00000293973:H271P	H	+	2	0	NTN3	2462515	0.000000	0.05858	0.988000	0.46212	0.933000	0.57130	0.208000	0.17415	-0.098000	0.12285	0.254000	0.18369	CAC		0.677	NTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250812.1	NM_006181		C	2522514	A	C	2522514	3	2	811	1	0	0	0	0	1	0	0	0	10703	159	6	5	814	5	NTN3	16	2522514	Missense_Mutation	SNP	A	TCGA-UZ-A9Q0-01A-12D-A42J-10		2522514	87832239	55	48609											
TMCO7	79613	hgsc.bcm.edu	37	16	68914532	68914532	+	Splice_Site	SNP	A	A	C			TCGA-UZ-A9Q0-01A-12D-A42J-10	TCGA-UZ-A9Q0-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1ade8c1b-f1d7-49ad-a7f1-d7b91dd79670	43bffa96-ab4f-4ba3-b15b-918e180d7be6	g.chr16:68914532A>C	ENST00000261778.1	+	7	1388	c.1376A>C	c.(1375-1377)aAg>aCg	p.K459T		NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	459						integral component of membrane (GO:0016021)											GATGTGTTTAAGGTTGGTAAT	0.323																																																0													192	175	181					16																	68914532		1823	4084	5907	SO:0001630	splice_region_variant	79613				CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 7"	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.1377+1A>C	chr16.hg19:g.68914532A>C			Q569F9|Q9H9K1	Missense_Mutation	SNP	ENST00000261778.1	hg19	CCDS45516.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.952009	0.73787	.	.	ENSG00000103047	ENST00000261778	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	T	0.76047	0.3933	M	0.72894	2.215	0.49299	D	0.999779	D	0.89917	1.0	D	0.85130	0.997	T	0.74460	-0.3658	8	0.29301	T	0.29	-10.3412	12.9949	0.58640	1.0:0.0:0.0:0.0	.	459	Q9C0B7	TMCO7_HUMAN	T	459	.	ENSP00000261778:K459T	K	+	2	0	TMCO7	67472033	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	5.339000	0.65953	2.053000	0.61076	0.533000	0.62120	AAG		0.323	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433471.2	XM_928235.2	Missense_Mutation	C	68914532	A	C	68914532	5	2	811	1	0	0	0	0	0	0	1	0	16006	86	3	5	1402	5	TMCO7	16	68914532	Splice_Site	SNP	A	TCGA-UZ-A9Q0-01A-12D-A42J-10	66392018	68914532	21440221	56	48610											
BANP	54971	hgsc.bcm.edu	37	16	88039824	88039824	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9Q0-01A-12D-A42J-10	TCGA-UZ-A9Q0-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1ade8c1b-f1d7-49ad-a7f1-d7b91dd79670	43bffa96-ab4f-4ba3-b15b-918e180d7be6	g.chr16:88039824G>A	ENST00000393207.1	+	6	805	c.584G>A	c.(583-585)aGt>aAt	p.S195N	BANP_ENST00000355163.5_Missense_Mutation_p.S170N|BANP_ENST00000538234.1_Missense_Mutation_p.S203N|BANP_ENST00000355022.4_Missense_Mutation_p.S164N|BANP_ENST00000393208.2_Missense_Mutation_p.S164N|BANP_ENST00000479780.2_Missense_Mutation_p.S164N|BANP_ENST00000286122.7_Missense_Mutation_p.S195N	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	195	Interaction with CUX1 and HDAC1. {ECO:0000250}.				cell cycle (GO:0007049)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of protein catabolic process (GO:0042177)|protein localization to nucleus (GO:0034504)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		CAGGCGGGCAGTCAGAGCATC	0.627																																																0													84	83	83					16																	88039824		2198	4300	6498	SO:0001583	missense	54971			AK094158	CCDS10966.2, CCDS42215.1, CCDS54052.1, CCDS54053.1, CCDS54054.1	16q24	2012-11-22			ENSG00000172530	ENSG00000172530		"BEN domain containing"	13450	protein-coding gene	gene with protein product	"BEN domain containing 1"	611564				10940556, 10950932	Standard	NM_017869		Approved	SMARBP1, SMAR1, FLJ20538, DKFZp761H172, FLJ10177, BEND1	uc010vow.2	Q8N9N5	OTTHUMG00000137678	ENST00000393207.1:c.584G>A	chr16.hg19:g.88039824G>A	ENSP00000376902:p.Ser195Asn		A8MU25|A8MX25|B2RCF7|B4DNJ9|F5GZM0|Q96GJ7|Q9NWY1	Missense_Mutation	SNP	ENST00000393207.1	hg19	CCDS54054.1	.	.	.	.	.	.	.	.	.	.	G	8.683	0.905509	0.17760	.	.	ENSG00000172530	ENST00000439677;ENST00000286122;ENST00000355163;ENST00000289484;ENST00000479780;ENST00000393208;ENST00000540932;ENST00000355022;ENST00000538234;ENST00000393207	T;T;T;T;T;T;T;T	0.25912	1.77;1.77;1.77;1.77;1.77;1.77;1.77;1.77	5.43	5.43	0.79202	.	0.141405	0.64402	D	0.000002	T	0.12050	0.0293	N	0.03608	-0.345	0.31704	N	0.64034	B;B;B;B;B;B	0.26258	0.002;0.002;0.001;0.145;0.002;0.001	B;B;B;B;B;B	0.25884	0.004;0.003;0.001;0.064;0.003;0.005	T	0.10245	-1.0638	10	0.29301	T	0.29	.	11.9944	0.53194	0.0791:0.0:0.9209:0.0	.	203;170;164;195;164;164	B4DE54;B4DNJ9;B2RCF7;Q8N9N5;Q8N9N5-2;Q8N9N5-4	.;.;.;BANP_HUMAN;.;.	N	170;195;170;160;164;164;164;164;203;195	ENSP00000411479:S170N;ENSP00000286122:S195N;ENSP00000347290:S170N;ENSP00000432508:S164N;ENSP00000376903:S164N;ENSP00000347125:S164N;ENSP00000444352:S203N;ENSP00000376902:S195N	ENSP00000286122:S195N	S	+	2	0	BANP	86597325	0.981000	0.34729	0.229000	0.23960	0.201000	0.24016	2.542000	0.45744	2.706000	0.92434	0.655000	0.94253	AGT		0.627	BANP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269166.1	NM_017869		A	88039824	G	A	88039824	3	1	811	1	0	0	0	0	1	0	0	0	1310	1029	36	2	644	2	BANP	16	88039824	Missense_Mutation	SNP	G	TCGA-UZ-A9Q0-01A-12D-A42J-10	19125292	88039824	2314929	57	48611											
NTN1	9423	hgsc.bcm.edu	37	17	9066277	9066277	+	Missense_Mutation	SNP	G	G	T			TCGA-UZ-A9Q0-01A-12D-A42J-10	TCGA-UZ-A9Q0-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1ade8c1b-f1d7-49ad-a7f1-d7b91dd79670	43bffa96-ab4f-4ba3-b15b-918e180d7be6	g.chr17:9066277G>T	ENST00000173229.2	+	3	1273	c.1166G>T	c.(1165-1167)cGc>cTc	p.R389L	NTN1_ENST00000546090.1_Missense_Mutation_p.R389L|NTN1_ENST00000538852.1_Missense_Mutation_p.R389L	NM_004822.2	NP_004813.2	O95631	NET1_HUMAN	netrin 1	389	Laminin EGF-like 2. {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						GGCTACTACCGCGACATGGGC	0.662																																																0													33	25	28					17																	9066277		2203	4300	6503	SO:0001583	missense	9423			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.1166G>T	chr17.hg19:g.9066277G>T	ENSP00000173229:p.Arg389Leu		E9KL51	Missense_Mutation	SNP	ENST00000173229.2	hg19	CCDS11148.1	.	.	.	.	.	.	.	.	.	.	G	34	5.334742	0.95758	.	.	ENSG00000065320	ENST00000173229;ENST00000538852;ENST00000546090;ENST00000436734	T;T;T;T	0.64438	-0.1;-0.1;-0.1;2.47	4.89	4.89	0.63831	EGF-like, laminin (4);	0.000000	0.85682	D	0.000000	D	0.84188	0.5417	M	0.92317	3.295	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.88486	0.3072	10	0.87932	D	0	.	18.4101	0.90549	0.0:0.0:1.0:0.0	.	389	O95631	NET1_HUMAN	L	389;389;389;9	ENSP00000173229:R389L;ENSP00000443259:R389L;ENSP00000441611:R389L;ENSP00000389375:R9L	ENSP00000173229:R389L	R	+	2	0	NTN1	9007002	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.365000	0.97139	2.437000	0.82529	0.650000	0.86243	CGC		0.662	NTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252583.1			T	9066277	G	T	9066277	3	4	811	1	0	0	0	0	1	0	0	0	10702	1087	38	4	1172	4	NTN1	17	9066277	Missense_Mutation	SNP	G	TCGA-UZ-A9Q0-01A-12D-A42J-10		9066277	72128933	58	48612											
ACACA	31	hgsc.bcm.edu	37	17	35609953	35609953	+	Silent	SNP	C	C	A			TCGA-UZ-A9Q0-01A-12D-A42J-10	TCGA-UZ-A9Q0-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1ade8c1b-f1d7-49ad-a7f1-d7b91dd79670	43bffa96-ab4f-4ba3-b15b-918e180d7be6	g.chr17:35609953C>A	ENST00000394406.2	-	15	1915	c.1725G>T	c.(1723-1725)gtG>gtT	p.V575V	ACACA_ENST00000360679.3_Silent_p.V517V|ACACA_ENST00000353139.5_Silent_p.V612V|ACACA_ENST00000335166.5_Silent_p.V497V	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	575	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)|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)	TCAAAGCCACCACCATGTTTC	0.403																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)											0													103	101	102					17																	35609953		2203	4300	6503	SO:0001819	synonymous_variant	31			U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 1"	200350	"acetyl-Coenzyme A carboxylase alpha"	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.1725G>T	chr17.hg19:g.35609953C>A			B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Silent	SNP	ENST00000394406.2	hg19	CCDS11317.1																																																																																				0.403	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		A	35609953	C	A	35609953	2	1	811	1	0	0	0	0	0	0	0	1	106	581	21	4		4	ACACA	17	35609953	Silent	SNP	C	TCGA-UZ-A9Q0-01A-12D-A42J-10	26543676	35609953	45585257	59	48613											
UBE2O	63893	hgsc.bcm.edu	37	17	74398143	74398143	+	Splice_Site	SNP	A	A	G			TCGA-UZ-A9Q0-01A-12D-A42J-10	TCGA-UZ-A9Q0-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1ade8c1b-f1d7-49ad-a7f1-d7b91dd79670	43bffa96-ab4f-4ba3-b15b-918e180d7be6	g.chr17:74398143A>G	ENST00000319380.7	-	5	815		c.e5+1		UBE2O_ENST00000587581.1_5'Flank	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O						positive regulation of BMP signaling pathway (GO:0030513)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						GGAGCACACTACCGAGTCGCT	0.562																																																0													86	61	70					17																	74398143		2203	4300	6503	SO:0001630	splice_region_variant	63893			AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931			29554	protein-coding gene	gene with protein product						11311559, 11214970	Standard	NM_022066		Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.750+1T>C	chr17.hg19:g.74398143A>G			A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Splice_Site	SNP	ENST00000319380.7	hg19	CCDS32742.1	.	.	.	.	.	.	.	.	.	.	A	27.2	4.810257	0.90707	.	.	ENSG00000175931	ENST00000319380	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5935	0.68386	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	UBE2O	71909738	1.000000	0.71417	0.995000	0.50966	0.970000	0.65996	8.917000	0.92751	2.198000	0.70561	0.533000	0.62120	.		0.562	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450123.1	NM_022066	Intron	G	74398143	A	G	74398143	5	3	811	1	0	0	0	0	0	0	1	0	16873	405	14	3	3182	3	UBE2O	17	74398143	Splice_Site	SNP	A	TCGA-UZ-A9Q0-01A-12D-A42J-10	38788190	74398143	6797067	60	48614											
SMARCA4	6597	hgsc.bcm.edu	37	19	11138579	11138579	+	Missense_Mutation	SNP	T	T	G			TCGA-UZ-A9Q0-01A-12D-A42J-10	TCGA-UZ-A9Q0-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1ade8c1b-f1d7-49ad-a7f1-d7b91dd79670	43bffa96-ab4f-4ba3-b15b-918e180d7be6	g.chr19:11138579T>G	ENST00000429416.3	+	25	3616	c.3335T>G	c.(3334-3336)aTg>aGg	p.M1112R	SMARCA4_ENST00000450717.3_Missense_Mutation_p.M1112R|SMARCA4_ENST00000344626.4_Missense_Mutation_p.M1112R|SMARCA4_ENST00000358026.2_Missense_Mutation_p.M1112R|SMARCA4_ENST00000541122.2_Missense_Mutation_p.M1112R|SMARCA4_ENST00000444061.3_Missense_Mutation_p.M1112R|SMARCA4_ENST00000589677.1_Missense_Mutation_p.M1112R|SMARCA4_ENST00000413806.3_Missense_Mutation_p.M1112R|SMARCA4_ENST00000590574.1_Missense_Mutation_p.M1112R	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1112	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.?(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)				ATGACCATCATGGAAGATTAC	0.468			"F, N, Mis"		NSCLC																																		Rec	yes		19	19p13.2	6597	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"		E	2	Unknown(2)	lung(2)											181	176	177					19																	11138579		2203	4300	6503	SO:0001583	missense	6597			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4"	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.3335T>G	chr19.hg19:g.11138579T>G	ENSP00000395654:p.Met1112Arg		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	hg19	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.536828	0.85812	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	T;T;T;T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97	5.04	5.04	0.67666	Helicase, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.85978	0.5823	M	0.87758	2.905	0.58432	D	0.999999	D;D;D;D;D;D;D;D	0.61080	0.989;0.989;0.989;0.988;0.981;0.969;0.989;0.989	P;P;P;P;P;P;P;P	0.61201	0.862;0.862;0.862;0.885;0.716;0.832;0.862;0.862	D	0.88680	0.3201	10	0.87932	D	0	-42.4872	13.9052	0.63831	0.0:0.0:0.0:1.0	.	1112;1112;1112;1112;1112;332;1112;1112	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;A7E2E1;P51532	.;.;.;.;.;.;.;SMCA4_HUMAN	R	1112;1112;1176;1112;1112;1112;1112;1112	ENSP00000395654:M1112R;ENSP00000350720:M1112R;ENSP00000343896:M1112R;ENSP00000445036:M1112R;ENSP00000392837:M1112R;ENSP00000397783:M1112R;ENSP00000414727:M1112R	ENSP00000343896:M1112R	M	+	2	0	SMARCA4	10999579	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.575000	0.82447	2.115000	0.64714	0.533000	0.62120	ATG		0.468	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		G	11138579	T	G	11138579	3	3	811	1	0	0	0	0	1	0	0	0	14776	1464	51	5	3425	5	SMARCA4	19	11138579	Missense_Mutation	SNP	T	TCGA-UZ-A9Q0-01A-12D-A42J-10		11138579	47990404	61	48615											
PAK4	10298	hgsc.bcm.edu	37	19	39664225	39664225	+	Missense_Mutation	SNP	C	C	A			TCGA-UZ-A9Q0-01A-12D-A42J-10	TCGA-UZ-A9Q0-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1ade8c1b-f1d7-49ad-a7f1-d7b91dd79670	43bffa96-ab4f-4ba3-b15b-918e180d7be6	g.chr19:39664225C>A	ENST00000593690.1	+	6	1100	c.673C>A	c.(673-675)Cat>Aat	p.H225N	PAK4_ENST00000321944.4_Missense_Mutation_p.H135N|PAK4_ENST00000599470.1_Missense_Mutation_p.H72N|PAK4_ENST00000358301.3_Missense_Mutation_p.H225N|PAK4_ENST00000435673.2_Missense_Mutation_p.H225N|PAK4_ENST00000599386.1_Missense_Mutation_p.H72N|PAK4_ENST00000360442.3_Missense_Mutation_p.H225N	NM_001014831.2	NP_001014831.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4	225	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)			GGGGGAGCCTCATGACGTGGC	0.667																																																0													13	15	14					19																	39664225		2145	4193	6338	SO:0001583	missense	10298			AJ011855	CCDS12528.1, CCDS33019.1	19p11-q11	2008-06-17	2008-06-17						16059	protein-coding gene	gene with protein product		605451	"p21(CDKN1A)-activated kinase 4"			9822598, 10461188	Standard	NM_001014831		Approved		uc002okn.1	O96013		ENST00000593690.1:c.673C>A	chr19.hg19:g.39664225C>A	ENSP00000469413:p.His225Asn		B4DGG6|Q8N4E1|Q8NCH5|Q8NDE3|Q9BU33|Q9ULS8	Missense_Mutation	SNP	ENST00000593690.1	hg19	CCDS12528.1	.	.	.	.	.	.	.	.	.	.	C	0.108	-1.142902	0.01728	.	.	ENSG00000130669	ENST00000358301;ENST00000321944;ENST00000358801;ENST00000435673;ENST00000360442	T;T;T	0.70986	-0.53;-0.53;-0.53	4.25	3.22	0.36961	.	1.326000	0.04874	N	0.446555	T	0.65249	0.2673	L	0.53249	1.67	0.30292	N	0.790288	B;B;B	0.16166	0.016;0.016;0.009	B;B;B	0.16289	0.01;0.015;0.005	T	0.51188	-0.8737	10	0.16896	T	0.51	.	7.9058	0.29761	0.0:0.887:0.0:0.113	.	135;72;225	O96013-4;O96013-3;O96013	.;.;PAK4_HUMAN	N	225;72;29;225;225	ENSP00000351049:H225N;ENSP00000392753:H225N;ENSP00000353625:H225N	ENSP00000326864:H72N	H	+	1	0	PAK4	44356065	0.020000	0.18652	0.427000	0.26684	0.020000	0.10135	0.211000	0.17474	1.008000	0.39264	0.462000	0.41574	CAT		0.667	PAK4-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463823.1			A	39664225	C	A	39664225	3	1	811	1	0	0	0	0	1	0	0	0	11405	826	29	4	683	4	PAK4	19	39664225	Missense_Mutation	SNP	C	TCGA-UZ-A9Q0-01A-12D-A42J-10	28525646	39664225	19464758	62	48616											
ZNF582	147948	hgsc.bcm.edu	37	19	56895643	56895643	+	Frame_Shift_Del	DEL	T	T	-			TCGA-UZ-A9Q0-01A-12D-A42J-10	TCGA-UZ-A9Q0-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1ade8c1b-f1d7-49ad-a7f1-d7b91dd79670	43bffa96-ab4f-4ba3-b15b-918e180d7be6	g.chr19:56895643delT	ENST00000301310.4	-	5	1301	c.1143delA	c.(1141-1143)caafs	p.Q381fs	ZNF582_ENST00000586929.1_Frame_Shift_Del_p.Q381fs	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	381					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)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		GTTGCTTGAGTTGTGAGCTCA	0.428																																					Ovarian(183;1887 2032 4349 30507 51343)											0													99	97	97					19																	56895643		2203	4300	6503	SO:0001589	frameshift_variant	147948			AK055489	CCDS33121.1	19q13.43	2013-07-15			ENSG00000018869	ENSG00000018869		"Zinc fingers, C2H2-type", "-"	26421	protein-coding gene	gene with protein product		615600				12477932	Standard	NM_144690		Approved	FLJ30927	uc002qmz.1	Q96NG8	OTTHUMG00000181939	ENST00000301310.4:c.1143delA	chr19.hg19:g.56895643delT	ENSP00000301310:p.Gln381fs		B4DQZ9|B7Z9R3|Q6PJT6	Frame_Shift_Del	DEL	ENST00000301310.4	hg19	CCDS33121.1																																																																																				0.428	ZNF582-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458387.2	NM_144690		-	56895643	T	-	56895643	7	5	811	1	0	1	0	1	0	0	0	0	18019	1722	60	0	414	0	ZNF582	19	56895643	Frame_Shift_Del	DEL	T	TCGA-UZ-A9Q0-01A-12D-A42J-10	17231418	56895643	2233340	63	48617											
C20orf144	128864	hgsc.bcm.edu	37	20	32251357	32251357	+	Missense_Mutation	SNP	T	T	C			TCGA-UZ-A9Q0-01A-12D-A42J-10	TCGA-UZ-A9Q0-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1ade8c1b-f1d7-49ad-a7f1-d7b91dd79670	43bffa96-ab4f-4ba3-b15b-918e180d7be6	g.chr20:32251357T>C	ENST00000375222.3	+	2	208	c.146T>C	c.(145-147)cTc>cCc	p.L49P	ACTL10_ENST00000330271.4_5'Flank|NECAB3_ENST00000375238.4_Intron|NECAB3_ENST00000246190.6_Intron|NECAB3_ENST00000606525.1_5'Flank	NM_080825.3	NP_543015.1	Q9BQM9	CT144_HUMAN	chromosome 20 open reading frame 144	49										lung(1)	1						GTGCTGATTCTCCCCCTGGAC	0.721																																																0													14	17	16					20																	32251357		1788	3701	5489	SO:0001583	missense	128864			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.146T>C	chr20.hg19:g.32251357T>C	ENSP00000364370:p.Leu49Pro		Q1AHR2	Missense_Mutation	SNP	ENST00000375222.3	hg19	CCDS13223.1	.	.	.	.	.	.	.	.	.	.	T	17.28	3.349754	0.61183	.	.	ENSG00000149609	ENST00000375222	T	0.55413	0.52	4.08	4.08	0.47627	.	0.272630	0.26366	N	0.024800	T	0.51160	0.1658	N	0.24115	0.695	0.18873	N	0.999984	D	0.60160	0.987	P	0.58391	0.838	T	0.41484	-0.9506	10	0.72032	D	0.01	-9.1117	9.636	0.39809	0.0:0.0:0.0:1.0	.	49	Q9BQM9	CT144_HUMAN	P	49	ENSP00000364370:L49P	ENSP00000364370:L49P	L	+	2	0	C20orf144	31715018	0.001000	0.12720	0.013000	0.15412	0.002000	0.02628	0.816000	0.27267	1.842000	0.53543	0.379000	0.24179	CTC		0.721	C20orf144-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078714.2	NM_080825		C	32251357	T	C	32251357	3	2	811	1	0	0	0	0	1	0	0	0	2092	1551	54	3	152	3	C20orf144	20	32251357	Missense_Mutation	SNP	T	TCGA-UZ-A9Q0-01A-12D-A42J-10		32251357	30774163	64	48618											
USP25	29761	hgsc.bcm.edu	37	21	17214827	17214829	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-UZ-A9Q0-01A-12D-A42J-10	TCGA-UZ-A9Q0-10A-01D-A42M-10	GAA	GAA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1ade8c1b-f1d7-49ad-a7f1-d7b91dd79670	43bffa96-ab4f-4ba3-b15b-918e180d7be6	g.chr21:17214827_17214829delGAA	ENST00000285679.6	+	18	2674_2676	c.2305_2307delGAA	c.(2305-2307)gaadel	p.E769del	USP25_ENST00000351097.5_Intron|USP25_ENST00000400183.2_In_Frame_Del_p.E769del|USP25_ENST00000285681.2_In_Frame_Del_p.E769del	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	769					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)		ACATGAGCATGAAGATAAAAGTC	0.404																																																0																																										SO:0001651	inframe_deletion	29761			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.2305_2307delGAA	chr21.hg19:g.17214827_17214829delGAA	ENSP00000285679:p.Glu769del		C0LSZ0|Q6DHZ9|Q9H9W1	In_Frame_Del	DEL	ENST00000285679.6	hg19	CCDS33515.1																																																																																				0.404	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157964.1			-	17214829	GAA	-	17214827	7	5	811	1	0	1	0	1	0	0	0	0	17061	1291	45	0	2375	0	USP25	21	17214827	In_Frame_Del	DEL	GAA	TCGA-UZ-A9Q0-01A-12D-A42J-10		17214827	30915068	65	48619											
SDF2L1	23753	hgsc.bcm.edu	37	22	21996638	21996638	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9Q0-01A-12D-A42J-10	TCGA-UZ-A9Q0-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1ade8c1b-f1d7-49ad-a7f1-d7b91dd79670	43bffa96-ab4f-4ba3-b15b-918e180d7be6	g.chr22:21996638G>A	ENST00000248958.4	+	1	89	c.13G>A	c.(13-15)Ggc>Agc	p.G5S	KB-1440D3.14_ENST00000609038.1_lincRNA	NM_022044.2	NP_071327.2	Q9HCN8	SDF2L_HUMAN	stromal cell-derived factor 2-like 1	5						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				prostate(1)	1	Colorectal(54;0.105)					GTGGAGCGCGGGCCGCGGCGG	0.771																																																0													4	6	5					22																	21996638		1658	3214	4872	SO:0001583	missense	23753				CCDS13792.1	22q11.21	2008-07-01			ENSG00000128228	ENSG00000128228			10676	protein-coding gene	gene with protein product	"dihydropyrimidinase-like 2", "PWP1-interacting protein 8"	607551				10591208, 11162531	Standard	NM_022044		Approved	AP000553.C22.4, OTTHUMT00000075032	uc002zvf.3	Q9HCN8	OTTHUMG00000150820	ENST00000248958.4:c.13G>A	chr22.hg19:g.21996638G>A	ENSP00000248958:p.Gly5Ser		A2RUD3|Q9BRI5	Missense_Mutation	SNP	ENST00000248958.4	hg19	CCDS13792.1	.	.	.	.	.	.	.	.	.	.	G	17.19	3.327679	0.60743	.	.	ENSG00000128228	ENST00000248958	T	0.79247	-1.25	4.86	3.84	0.44239	.	0.284658	0.24713	N	0.036213	T	0.66839	0.2830	L	0.36672	1.1	0.24093	N	0.995908	B	0.02656	0.0	B	0.10450	0.005	T	0.54840	-0.8233	10	0.30854	T	0.27	-18.1036	10.7972	0.46468	0.0977:0.0:0.9023:0.0	.	5	Q9HCN8	SDF2L_HUMAN	S	5	ENSP00000248958:G5S	ENSP00000248958:G5S	G	+	1	0	SDF2L1	20326638	0.052000	0.20516	0.997000	0.53966	0.628000	0.37860	0.117000	0.15583	1.332000	0.45431	0.655000	0.94253	GGC		0.771	SDF2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320197.1	NM_022044		A	21996638	G	A	21996638	3	1	811	1	0	0	0	0	1	0	0	0	13967	1232	43	2	15	2	SDF2L1	22	21996638	Missense_Mutation	SNP	G	TCGA-UZ-A9Q0-01A-12D-A42J-10		21996638	29307928	66	48620											
OR4F5	79501	hgsc.bcm.edu	37	1	69618	69629	+	In_Frame_Del	DEL	GGTAATCAAACT	GGTAATCAAACT	-			TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	GGTAATCAAACT	GGTAATCAAACT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chr1:69618_69629delGGTAATCAAACT	ENST00000335137.3	+	1	528_539	c.528_539delGGTAATCAAACT	c.(526-540)agggtaatcaaactt>agt	p.176_180RVIKL>S		NM_001005484.1	NP_001005484.1	Q8NH21	OR4F5_HUMAN	olfactory receptor, family 4, subfamily F, member 5	176						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)		ACCTTCCTAGGGTAATCAAACTTGCCTGTACA	0.434																																																0																																										SO:0001651	inframe_deletion	79501			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.528_539delGGTAATCAAACT	chr1.hg19:g.69618_69629delGGTAATCAAACT	ENSP00000334393:p.Arg176_Leu180delinsSer		Q5VT22	In_Frame_Del	DEL	ENST00000335137.3	hg19	CCDS30547.1																																																																																				0.434	OR4F5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003223.1	NM_001005484		-	69629	GGTAATCAAACT	-	69618	7	5	812	1	0	1	0	1	0	0	0	0	11067	1223	43	0	530	0	OR4F5	1	69618	In_Frame_Del	DEL	GGTAATCAAACT	TCGA-UZ-A9Q1-01A-11D-A42J-10		69618	249181003	1	48621											
PLEKHG5	57449	hgsc.bcm.edu	37	1	6556604	6556604	+	Silent	SNP	C	C	T			TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chr1:6556604C>T	ENST00000400915.3	-	2	96	c.30G>A	c.(28-30)aaG>aaA	p.K10K	PLEKHG5_ENST00000537245.1_Silent_p.K33K|PLEKHG5_ENST00000377740.3_Silent_p.K31K|PLEKHG5_ENST00000377732.1_5'UTR|PLEKHG5_ENST00000377748.1_Silent_p.K31K|PLEKHG5_ENST00000377737.2_5'UTR|PLEKHG5_ENST00000544978.1_5'UTR	NM_001042663.1	NP_001036128.1	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	10					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)		AGCGCAGTCCCTTCTTTTCAG	0.711																																																0													36	40	39					1																	6556604		1918	4113	6031	SO:0001819	synonymous_variant	57449			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.30G>A	chr1.hg19:g.6556604C>T			B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1	Silent	SNP	ENST00000400915.3	hg19	CCDS41241.1																																																																																				0.711	PLEKHG5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002631.1	NM_020631		T	6556604	C	T	6556604	2	4	812	1	0	0	0	0	0	0	0	1	12075	680	24	2		2	PLEKHG5	1	6556604	Silent	SNP	C	TCGA-UZ-A9Q1-01A-11D-A42J-10	6486986	6556604	242694017	2	48622											
KAZ	23254	hgsc.bcm.edu	37	1	15438985	15438985	+	Missense_Mutation	SNP	C	C	T			TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chr1:15438985C>T	ENST00000376030.2	+	14	2405	c.2111C>T	c.(2110-2112)aCg>aTg	p.T704M		NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	704					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						TCCAGCGTCACGCGGGCAGGA	0.602																																																0													35	34	34					1																	15438985		2203	4298	6501	SO:0001583	missense	23254			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.2111C>T	chr1.hg19:g.15438985C>T	ENSP00000365198:p.Thr704Met		B0QYQ0|B1AK78|Q5TGF1|Q674X4|Q674X6|Q6ZUD1|Q8IYN7|Q8N409|Q9UIL2|Q9UPX4	Missense_Mutation	SNP	ENST00000376030.2	hg19	CCDS152.2	.	.	.	.	.	.	.	.	.	.	C	15.00	2.704557	0.48412	.	.	ENSG00000189337	ENST00000376030	T	0.18174	2.23	5.52	5.52	0.82312	.	0.568180	0.15933	N	0.237585	T	0.16171	0.0389	N	0.19112	0.55	0.80722	D	1	D	0.65815	0.995	P	0.46339	0.513	T	0.02294	-1.1181	10	0.46703	T	0.11	-15.1435	14.97	0.71226	0.0:1.0:0.0:0.0	.	704	Q674X7	KAZRN_HUMAN	M	704	ENSP00000365198:T704M	ENSP00000365198:T704M	T	+	2	0	KAZN	15311572	0.897000	0.30589	0.951000	0.38953	0.622000	0.37654	3.734000	0.55037	2.591000	0.87537	0.650000	0.86243	ACG		0.602	KAZN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005690.2	NM_001017999		T	15438985	C	T	15438985	3	4	812	1	0	0	0	0	1	0	0	0	7990	536	19	1	2421	1	KAZ	1	15438985	Missense_Mutation	SNP	C	TCGA-UZ-A9Q1-01A-11D-A42J-10	8882381	15438985	233811636	3	48623											
XPR1	9213	hgsc.bcm.edu	37	1	180843044	180843044	+	Missense_Mutation	SNP	A	A	C			TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chr1:180843044A>C	ENST00000367590.4	+	13	1972	c.1774A>C	c.(1774-1776)Att>Ctt	p.I592L	XPR1_ENST00000367589.3_Missense_Mutation_p.I527L	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	592	EXS. {ECO:0000255|PROSITE- ProRule:PRU00712}.				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)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						TGGGGACATCATTGCTACTGT	0.393																																																0													128	111	116					1																	180843044		2203	4300	6503	SO:0001583	missense	9213			AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324			12827	protein-coding gene	gene with protein product		605237	"xenotropic and polytropic retrovirus receptor"			9990033	Standard	NM_004736		Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.1774A>C	chr1.hg19:g.180843044A>C	ENSP00000356562:p.Ile592Leu		O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Missense_Mutation	SNP	ENST00000367590.4	hg19	CCDS1340.1	.	.	.	.	.	.	.	.	.	.	A	10.13	1.266946	0.23136	.	.	ENSG00000143324	ENST00000367590;ENST00000367589	T;T	0.39787	1.06;1.06	5.43	4.31	0.51392	EXS, C-terminal (2);	0.170586	0.51477	D	0.000092	T	0.19604	0.0471	N	0.04636	-0.2	0.27836	N	0.941287	B;B	0.11235	0.001;0.004	B;B	0.11329	0.003;0.006	T	0.17319	-1.0373	10	0.14656	T	0.56	-10.892	10.5361	0.45004	0.9236:0.0:0.0764:0.0	.	527;592	Q9UBH6-2;Q9UBH6	.;XPR1_HUMAN	L	592;527	ENSP00000356562:I592L;ENSP00000356561:I527L	ENSP00000356561:I527L	I	+	1	0	XPR1	179109667	1.000000	0.71417	1.000000	0.80357	0.680000	0.39746	1.548000	0.36201	0.925000	0.37094	0.528000	0.53228	ATT		0.393	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2	NM_004736		C	180843044	A	C	180843044	3	2	812	1	0	0	0	0	1	0	0	0	17456	217	8	5	1824	5	XPR1	1	180843044	Missense_Mutation	SNP	A	TCGA-UZ-A9Q1-01A-11D-A42J-10	165404059	180843044	68407577	4	48624											
SYT2	127833	hgsc.bcm.edu	37	1	202572220	202572220	+	Silent	SNP	C	C	G			TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chr1:202572220C>G	ENST00000367267.1	-	4	564	c.372G>C	c.(370-372)ctG>ctC	p.L124L	SYT2_ENST00000367268.4_Silent_p.L124L|RP11-569A11.1_ENST00000428573.1_RNA	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	124					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)	CCCCCTCAGTCAGGCCTGTCT	0.547																																																0													128	111	117					1																	202572220		2203	4300	6503	SO:0001819	synonymous_variant	127833			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.372G>C	chr1.hg19:g.202572220C>G			Q496K5|Q8NBE5	Silent	SNP	ENST00000367267.1	hg19	CCDS1427.1																																																																																				0.547	SYT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099157.1	NM_177402		G	202572220	C	G	202572220	2	3	812	1	0	0	0	0	0	0	0	1	15479	813	29	4		4	SYT2	1	202572220	Silent	SNP	C	TCGA-UZ-A9Q1-01A-11D-A42J-10	21729176	202572220	46678401	5	48625											
ADAM17	6868	hgsc.bcm.edu	37	2	9666345	9666345	+	Silent	SNP	A	A	G			TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chr2:9666345A>G	ENST00000310823.3	-	6	830	c.648T>C	c.(646-648)gcT>gcC	p.A216A	ADAM17_ENST00000497134.1_Silent_p.A216A	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	216					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell motility (GO:0048870)|collagen catabolic process (GO:0030574)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|germinal center formation (GO:0002467)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil mediated immunity (GO:0002446)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of chemokine production (GO:0032722)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|proteolysis (GO:0006508)|regulation of mast cell apoptotic process (GO:0033025)|response to drug (GO:0042493)|response to high density lipoprotein particle (GO:0055099)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|wound healing, spreading of epidermal cells (GO:0035313)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|interleukin-6 receptor binding (GO:0005138)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|Notch binding (GO:0005112)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		GATCTGGGTCAGCTCTTCTTT	0.368																																																0													173	153	160					2																	9666345		2203	4300	6503	SO:0001819	synonymous_variant	6868			U69611	CCDS1665.1	2p25	2010-08-05	2008-07-31		ENSG00000151694	ENSG00000151694		"ADAM metallopeptidase domain containing", "CD molecules"	195	protein-coding gene	gene with protein product		603639	"tumor necrosis factor, alpha, converting enzyme"	TACE		9034190, 9574564	Standard	NM_003183		Approved	cSVP, CD156B	uc002qzu.3	P78536	OTTHUMG00000090425	ENST00000310823.3:c.648T>C	chr2.hg19:g.9666345A>G			O60226	Silent	SNP	ENST00000310823.3	hg19	CCDS1665.1																																																																																				0.368	ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206857.1			G	9666345	A	G	9666345	2	3	812	1	0	0	0	0	0	0	0	1	238	175	7	3		3	ADAM17	2	9666345	Silent	SNP	A	TCGA-UZ-A9Q1-01A-11D-A42J-10		9666345	233533028	6	48626											
ATP6V1C2	245973	hgsc.bcm.edu	37	2	10922432	10922436	+	Frame_Shift_Del	DEL	GCGTT	GCGTT	-	rs377277646		TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	GCGTT	GCGTT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chr2:10922432_10922436delGCGTT	ENST00000272238.4	+	13	1234_1238	c.1125_1129delGCGTT	c.(1123-1131)aagcgtttafs	p.KRL375fs	ATP6V1C2_ENST00000381661.3_Frame_Shift_Del_p.KRL329fs	NM_001039362.1	NP_001034451.1	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	375					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)|positive regulation of Wnt signaling pathway (GO:0030177)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|protein dimerization activity (GO:0046983)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		CATCCACCAAGCGTTTAAGAGAGGT	0.449																																					NSCLC(188;1042 2136 10807 16813 47705)											0																																										SO:0001589	frameshift_variant	245973			AY039759	CCDS1674.1, CCDS42653.1	2p25.1	2010-04-21	2006-01-13		ENSG00000143882	ENSG00000143882		"ATPases / V-type"	18264	protein-coding gene	gene with protein product			"ATPase, H+ transporting, lysosomal 42kD, V1 subunit C isoform 2", "ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C isoform 2"			12384298	Standard	XR_426949		Approved	VMA5, ATP6C2	uc002ras.3	Q8NEY4	OTTHUMG00000090459	ENST00000272238.4:c.1125_1129delGCGTT	chr2.hg19:g.10922432_10922436delGCGTT	ENSP00000272238:p.Lys375fs		Q96EL8	Frame_Shift_Del	DEL	ENST00000272238.4	hg19	CCDS42653.1																																																																																				0.449	ATP6V1C2-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323555.1	NM_144583		-	10922436	GCGTT	-	10922432	7	5	812	1	0	1	0	1	0	0	0	0	1181	962	34	0	1171	0	ATP6V1C2	2	10922432	Frame_Shift_Del	DEL	GCGTT	TCGA-UZ-A9Q1-01A-11D-A42J-10	1256087	10922432	232276941	7	48627											
ARID5A	10865	hgsc.bcm.edu	37	2	97217448	97217448	+	Missense_Mutation	SNP	C	C	A			TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chr2:97217448C>A	ENST00000357485.3	+	7	1261	c.1183C>A	c.(1183-1185)Cgc>Agc	p.R395S	ARID5A_ENST00000454558.2_Missense_Mutation_p.R327S	NM_212481.1	NP_997646.1	Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	395					chondrocyte differentiation (GO:0002062)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						AGACGCTAACCGCCCTTCTGC	0.597																																																0													37	33	35					2																	97217448		2203	4299	6502	SO:0001583	missense	10865			M62324	CCDS33251.1	2p11.1	2013-02-07			ENSG00000196843	ENSG00000196843		"-"	17361	protein-coding gene	gene with protein product	"modulator recognition factor 1"	611583				8649988	Standard	NM_212481		Approved	MRF-1, RP11-363D14	uc002swe.3	Q03989	OTTHUMG00000155229	ENST00000357485.3:c.1183C>A	chr2.hg19:g.97217448C>A	ENSP00000350078:p.Arg395Ser		Q6NX37	Missense_Mutation	SNP	ENST00000357485.3	hg19	CCDS33251.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.628516	0.46944	.	.	ENSG00000196843	ENST00000357485;ENST00000359765;ENST00000454558	T	0.66638	-0.22	5.22	5.22	0.72569	.	0.267002	0.27193	N	0.020484	T	0.63954	0.2555	L	0.57536	1.79	0.30657	N	0.754762	P;B;B	0.44090	0.826;0.36;0.135	B;B;B	0.43155	0.41;0.04;0.081	T	0.64101	-0.6486	10	0.17369	T	0.5	-20.5478	14.6192	0.68572	0.0:1.0:0.0:0.0	.	395;327;395	A6NM59;C9J1Q0;Q03989	.;.;ARI5A_HUMAN	S	395;395;327	ENSP00000350078:R395S	ENSP00000350078:R395S	R	+	1	0	ARID5A	96581175	0.057000	0.20700	0.976000	0.42696	0.578000	0.36192	3.330000	0.52068	2.588000	0.87417	0.655000	0.94253	CGC		0.597	ARID5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338888.2	NM_212481		A	97217448	C	A	97217448	3	1	812	1	0	0	0	0	1	0	0	0	921	652	23	4	1209	4	ARID5A	2	97217448	Missense_Mutation	SNP	C	TCGA-UZ-A9Q1-01A-11D-A42J-10	86295016	97217448	145981925	8	48628											
ACVR2A	92	hgsc.bcm.edu	37	2	148683732	148683732	+	Splice_Site	DEL	T	T	-			TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chr2:148683732delT	ENST00000241416.7	+	10	1983		c.e10+2		ACVR2A_ENST00000535787.1_Splice_Site|ACVR2A_ENST00000495775.1_Splice_Site|ACVR2A_ENST00000404590.1_Splice_Site	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA						activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|gastrulation with mouth forming second (GO:0001702)|mesoderm development (GO:0007498)|penile erection (GO:0043084)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|regulation of BMP signaling pathway (GO:0030510)|regulation of nitric-oxide synthase activity (GO:0050999)|Sertoli cell proliferation (GO:0060011)|sperm ejaculation (GO:0042713)|spermatogenesis (GO:0007283)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|coreceptor activity (GO:0015026)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		AAACATGCTGTAAGTTATCCA	0.353																																																0													115	95	102					2																	148683732		2203	4299	6502	SO:0001630	splice_region_variant	92				CCDS33301.1, CCDS63030.1	2q22.2-q23.3	2008-02-05	2005-05-10	2005-05-10	ENSG00000121989	ENSG00000121989			173	protein-coding gene	gene with protein product		102581	"activin A receptor, type II"	ACVR2		1314589, 10702675	Standard	NM_001278579		Approved	ACTRII	uc002twh.3	P27037	OTTHUMG00000150603	ENST00000241416.7:c.1347+2T>-	chr2.hg19:g.148683732delT			B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Splice_Site	DEL	ENST00000241416.7	hg19	CCDS33301.1																																																																																				0.353	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319051.1	NM_001616	Intron	-	148683732	T	-	148683732	8	5	812	1	0	1	0	1	0	0	1	0	223	1652	57	0	1387	0	ACVR2A	2	148683732	Splice_Site	DEL	T	TCGA-UZ-A9Q1-01A-11D-A42J-10	51466284	148683732	94515641	9	48629											
BOLL	66037	hgsc.bcm.edu	37	2	198643755	198643755	+	Silent	SNP	C	C	T			TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chr2:198643755C>T	ENST00000392296.4	-	3	474	c.165G>A	c.(163-165)caG>caA	p.Q55Q	BOLL_ENST00000433157.1_Silent_p.Q55Q|BOLL_ENST00000321801.7_Silent_p.Q67Q|BOLL_ENST00000430004.1_Silent_p.Q55Q|BOLL_ENST00000282278.8_5'UTR	NM_033030.5	NP_149019.1	Q8N9W6	BOLL_HUMAN	boule-like RNA-binding protein	55	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|positive regulation of translational initiation (GO:0045948)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|translation activator activity (GO:0008494)			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						CAGACCCATACTGGGAAAAAA	0.308																																																0													90	91	91					2																	198643755		2202	4299	6501	SO:0001819	synonymous_variant	66037				CCDS2324.1, CCDS2325.1, CCDS63081.1	2q33	2013-10-17	2013-10-17		ENSG00000152430	ENSG00000152430		"RNA binding motif (RRM) containing"	14273	protein-coding gene	gene with protein product		606165	"bol (Drosophila boule homolog)-like", "bol, boule-like (Drosophila)"			11390979, 16001084	Standard	NM_197970		Approved	BOULE	uc002uut.2	Q8N9W6	OTTHUMG00000132747	ENST00000392296.4:c.165G>A	chr2.hg19:g.198643755C>T			B4DZA4|Q0JW32|Q53T62|Q969U3	Silent	SNP	ENST00000392296.4	hg19	CCDS2325.1																																																																																				0.308	BOLL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256107.3	NM_033030		T	198643755	C	T	198643755	2	4	812	1	0	0	0	0	0	0	0	1	1489	564	20	2		2	BOLL	2	198643755	Silent	SNP	C	TCGA-UZ-A9Q1-01A-11D-A42J-10	49960023	198643755	44555618	10	48630											
CCR9	10803	hgsc.bcm.edu	37	3	45942933	45942933	+	Missense_Mutation	SNP	A	A	T			TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chr3:45942933A>T	ENST00000357632.2	+	3	833	c.653A>T	c.(652-654)aAg>aTg	p.K218M	CCR9_ENST00000355983.2_Missense_Mutation_p.K206M|CCR9_ENST00000422395.1_3'UTR|LZTFL1_ENST00000536047.1_Intron|Y_RNA_ENST00000364765.1_RNA|CCR9_ENST00000395963.2_Missense_Mutation_p.K206M|LZTFL1_ENST00000539217.1_Intron	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	218					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)		TTGACCCTGAAGGTCATTCTG	0.478																																																0													190	169	176					3																	45942933		2203	4300	6503	SO:0001583	missense	10803			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.653A>T	chr3.hg19:g.45942933A>T	ENSP00000350256:p.Lys218Met		Q4VBM3|Q549E0|Q9UQQ6	Missense_Mutation	SNP	ENST00000357632.2	hg19	CCDS2732.1	.	.	.	.	.	.	.	.	.	.	A	19.70	3.876744	0.72180	.	.	ENSG00000173585	ENST00000357632;ENST00000395963;ENST00000355983	T;T;T	0.72051	-0.62;-0.62;-0.62	4.96	3.82	0.43975	GPCR, rhodopsin-like superfamily (1);	8.991370	0.00357	N	0.000032	T	0.72495	0.3467	N	0.12853	0.265	0.46609	D	0.999123	P	0.49961	0.93	P	0.62014	0.897	T	0.64478	-0.6398	10	0.41790	T	0.15	.	10.0158	0.42014	0.9208:0.0:0.0792:0.0	.	218	P51686	CCR9_HUMAN	M	218;206;206	ENSP00000350256:K218M;ENSP00000379292:K206M;ENSP00000348260:K206M	ENSP00000348260:K206M	K	+	2	0	CCR9	45917937	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.324000	0.72896	1.858000	0.53909	0.460000	0.39030	AAG		0.478	CCR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257323.2			T	45942933	A	T	45942933	3	4	812	1	0	0	0	0	1	0	0	0	2950	72	3	5	659	5	CCR9	3	45942933	Missense_Mutation	SNP	A	TCGA-UZ-A9Q1-01A-11D-A42J-10		45942933	152079497	11	48631											
PTH1R	5745	hgsc.bcm.edu	37	3	46935466	46935467	+	Frame_Shift_Ins	INS	-	-	A			TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chr3:46935466_46935467insA	ENST00000313049.5	+	2	348_349	c.145_146insA	c.(145-147)gaafs	p.E49fs	PTH1R_ENST00000490109.1_3'UTR|PTH1R_ENST00000418619.1_Frame_Shift_Ins_p.E49fs|PTH1R_ENST00000430002.2_Frame_Shift_Ins_p.E49fs|PTH1R_ENST00000449590.1_Frame_Shift_Ins_p.E49fs			Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	49					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)	GGCCCAGTGCGAAAAACGGCTC	0.609																																																0																																										SO:0001589	frameshift_variant	5745				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.150dupA	chr3.hg19:g.46935471_46935471dupA	ENSP00000321999:p.Glu49fs		Q2M1U3	Frame_Shift_Ins	INS	ENST00000313049.5	hg19	CCDS2747.1																																																																																				0.609	PTH1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257481.1	NM_000316		A	46935467	-	A	46935466	7	5	812	1	0	1	1	0	0	0	0	0	12764	1059	37	0	151	0	PTH1R	3	46935466	Frame_Shift_Ins	INS	-	TCGA-UZ-A9Q1-01A-11D-A42J-10	992533	46935466	151086964	12	48632											
CEP135	9662	hgsc.bcm.edu	37	4	56818348	56818348	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chr4:56818348C>T	ENST00000257287.4	+	2	176	c.52C>T	c.(52-54)Cag>Tag	p.Q18*	CEP135_ENST00000422247.2_Nonsense_Mutation_p.Q18*	NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	18					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					AAGGCTGGATCAGCTGGGATA	0.363																																																0													62	66	64					4																	56818348		2203	4300	6503	SO:0001587	stop_gained	9662			AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"KIAA0635", "centrosomal protein 4"	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.52C>T	chr4.hg19:g.56818348C>T	ENSP00000257287:p.Gln18*		B2RMY0|O75130|Q58F25|Q9H8H7	Nonsense_Mutation	SNP	ENST00000257287.4	hg19	CCDS33986.1	.	.	.	.	.	.	.	.	.	.	C	36	5.700451	0.96802	.	.	ENSG00000174799	ENST00000422247;ENST00000257287	.	.	.	5.88	5.03	0.67393	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	16.9683	0.86293	0.0:0.8722:0.1278:0.0	.	.	.	.	X	18	.	ENSP00000257287:Q18X	Q	+	1	0	CEP135	56513105	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.794000	0.85869	1.471000	0.48121	0.655000	0.94253	CAG		0.363	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2	NM_025009		T	56818348	C	T	56818348	4	4	812	1	0	0	0	0	0	1	0	0	3249	827	29	2	54	2	CEP135	4	56818348	Nonsense_Mutation	SNP	C	TCGA-UZ-A9Q1-01A-11D-A42J-10		56818348	134335928	13	48633											
SEC24B	10427	hgsc.bcm.edu	37	4	110433149	110433169	+	In_Frame_Del	DEL	TGCCGATCCTGTCGAACGTAT	TGCCGATCCTGTCGAACGTAT	-	rs534235016|rs574648225		TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	TGCCGATCCTGTCGAACGTAT	TGCCGATCCTGTCGAACGTAT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chr4:110433149_110433169delTGCCGATCCTGTCGAACGTAT	ENST00000265175.5	+	9	1868_1888	c.1813_1833delTGCCGATCCTGTCGAACGTAT	c.(1813-1833)tgccgatcctgtcgaacgtatdel	p.CRSCRTY605del	SEC24B_ENST00000504968.2_In_Frame_Del_p.CRSCRTY635del|SEC24B_ENST00000399100.2_In_Frame_Del_p.CRSCRTY570del	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	605	Zinc finger-like.				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)		CATTGTGAGGTGCCGATCCTGTCGAACGTATATTAACCCCT	0.367																																																0																																										SO:0001651	inframe_deletion	10427			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.1813_1833delTGCCGATCCTGTCGAACGTAT	chr4.hg19:g.110433149_110433169delTGCCGATCCTGTCGAACGTAT	ENSP00000265175:p.Cys605_Tyr611del		B7ZKM8|B7ZKN4|Q0VG08	In_Frame_Del	DEL	ENST00000265175.5	hg19	CCDS47124.1																																																																																				0.367	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364693.2			-	110433169	TGCCGATCCTGTCGAACGTAT	-	110433149	7	5	812	1	0	1	0	1	0	0	0	0	14001	1696	59	0	1847	0	SEC24B	4	110433149	In_Frame_Del	DEL	TGCCGATCCTGTCGAACGTAT	TCGA-UZ-A9Q1-01A-11D-A42J-10	53614801	110433149	80721127	14	48634											
RPS3A	6189	hgsc.bcm.edu	37	4	152021725	152021725	+	Silent	SNP	A	A	C			TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chr4:152021725A>C	ENST00000274065.4	+	2	231	c.151A>C	c.(151-153)Agg>Cgg	p.R51R	SNORD73_ENST00000364394.1_RNA|RPS3A_ENST00000506126.1_Silent_p.R14R|RPS3A_ENST00000509736.1_Intron|RPS3A_ENST00000514682.1_Silent_p.R14R|RPS3A_ENST00000512690.1_Silent_p.R51R|RPS3A_ENST00000322686.6_Silent_p.R38R	NM_001006.4	NP_000997.1			ribosomal protein S3A											endometrium(1)|lung(1)|ovary(1)|pancreas(1)	4	all_hematologic(180;0.093)					GCTCGTCACCAGGACCCAAGG	0.398																																																0													72	78	76					4																	152021725		2203	4300	6503	SO:0001819	synonymous_variant	6189			X87373	CCDS3775.1	4q31.2-q31.3	2011-04-05			ENSG00000145425	ENSG00000145425		"S ribosomal proteins"	10421	protein-coding gene	gene with protein product		180478		MFTL		8647443, 1398113	Standard	NM_001006		Approved	S3A	uc003ilz.4	P61247	OTTHUMG00000161445	ENST00000274065.4:c.151A>C	chr4.hg19:g.152021725A>C				Silent	SNP	ENST00000274065.4	hg19	CCDS3775.1																																																																																				0.398	RPS3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364957.1			C	152021725	A	C	152021725	2	2	812	1	0	0	0	0	0	0	0	1	13650	179	7	5		5	RPS3A	4	152021725	Silent	SNP	A	TCGA-UZ-A9Q1-01A-11D-A42J-10	41588576	152021725	39132551	15	48635											
RXFP1	59350	hgsc.bcm.edu	37	4	159573058	159573058	+	Missense_Mutation	SNP	G	G	T			TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chr4:159573058G>T	ENST00000307765.5	+	18	2376	c.2125G>T	c.(2125-2127)Ggt>Tgt	p.G709C	RXFP1_ENST00000470033.1_Missense_Mutation_p.G676C|RXFP1_ENST00000448688.2_Missense_Mutation_p.G604C|RXFP1_ENST00000460056.2_Missense_Mutation_p.G628C|RXFP1_ENST00000343542.5_Missense_Mutation_p.G661C	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	709					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)	p.G709C(1)		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)		GGACAGCAAAGGTCAGAAAAC	0.418																																																1	Substitution - Missense(1)	lung(1)											121	113	115					4																	159573058		1903	4111	6014	SO:0001583	missense	59350			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.2125G>T	chr4.hg19:g.159573058G>T	ENSP00000303248:p.Gly709Cys		B4DHD1|B4DTV2|Q2M215|Q3KU24|Q3KU25|Q3KU26	Missense_Mutation	SNP	ENST00000307765.5	hg19	CCDS43276.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.232792	0.39498	.	.	ENSG00000171509	ENST00000460056;ENST00000307765;ENST00000448688;ENST00000343542;ENST00000470033;ENST00000440678	T;T;T;T;T	0.70869	-0.37;-0.47;-0.33;-0.52;-0.47	5.75	3.11	0.35812	.	0.407867	0.26279	N	0.025297	T	0.65770	0.2723	L	0.51422	1.61	0.24866	N	0.992319	P;P;P;P;P;P;P;P	0.50617	0.896;0.883;0.896;0.616;0.937;0.88;0.896;0.482	B;B;B;B;P;B;B;B	0.45913	0.302;0.417;0.395;0.393;0.497;0.376;0.321;0.28	T	0.60005	-0.7347	10	0.66056	D	0.02	.	8.488	0.33082	0.2892:0.0:0.7108:0.0	.	720;736;604;661;676;628;579;709	B3KV27;B4DGP2;B4DHD1;Q9HBX9-4;Q9HBX9-2;E9PCA3;Q59H16;Q9HBX9	.;.;.;.;.;.;.;RXFP1_HUMAN	C	628;709;604;661;676;579	ENSP00000423306:G628C;ENSP00000303248:G709C;ENSP00000414885:G604C;ENSP00000345889:G661C;ENSP00000420712:G676C	ENSP00000303248:G709C	G	+	1	0	RXFP1	159792508	0.580000	0.26733	0.981000	0.43875	0.525000	0.34531	0.400000	0.20932	0.779000	0.33543	0.655000	0.94253	GGT		0.418	RXFP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314865.1	NM_021634		T	159573058	G	T	159573058	3	4	812	1	0	0	0	0	1	0	0	0	13765	1000	35	4	2195	4	RXFP1	4	159573058	Missense_Mutation	SNP	G	TCGA-UZ-A9Q1-01A-11D-A42J-10	7551333	159573058	31581218	16	48636											
FNIP2	57600	hgsc.bcm.edu	37	4	159753052	159753054	+	In_Frame_Del	DEL	ATG	ATG	-			TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	ATG	ATG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chr4:159753052_159753054delATG	ENST00000264433.6	+	4	496_498	c.421_423delATG	c.(421-423)atgdel	p.M142del	FNIP2_ENST00000379346.3_In_Frame_Del_p.M165del	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	142					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		GTTAGGGGAAATGATGTTTGGCT	0.409																																																0																																										SO:0001651	inframe_deletion	57600			AB040883	CCDS47155.1	4q32.1	2012-10-31			ENSG00000052795	ENSG00000052795			29280	protein-coding gene	gene with protein product	"O6-methylguanine-induced apoptosis 1"	612768				18403135	Standard	NM_020840		Approved	KIAA1450, FNIPL, MAPO1	uc003iqe.4	Q9P278	OTTHUMG00000161983	ENST00000264433.6:c.421_423delATG	chr4.hg19:g.159753055_159753057delATG	ENSP00000264433:p.Met142del		Q05DC3|Q96I31|Q9H994	In_Frame_Del	DEL	ENST00000264433.6	hg19	CCDS47155.1																																																																																				0.409	FNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366602.1	NM_020840		-	159753054	ATG	-	159753052	7	5	812	1	0	1	0	1	0	0	0	0	5978	101	4	0	435	0	FNIP2	4	159753052	In_Frame_Del	DEL	ATG	TCGA-UZ-A9Q1-01A-11D-A42J-10	179994	159753052	31401224	17	48637											
SGTB	54557	hgsc.bcm.edu	37	5	65016544	65016544	+	Missense_Mutation	SNP	T	T	C			TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chr5:65016544T>C	ENST00000381007.4	-	2	326	c.91A>G	c.(91-93)Agt>Ggt	p.S31G	NLN_ENST00000502464.1_5'Flank|NLN_ENST00000380985.5_5'Flank	NM_019072.2	NP_061945.1	Q96EQ0	SGTB_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, beta	31										large_intestine(3)|lung(3)|skin(3)	9		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Breast(144;0.174)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0657)|Lung(70;0.00487)		CCTTCCAAACTTTCTTGTTCA	0.353																																																0													105	106	105					5																	65016544		2203	4300	6503	SO:0001583	missense	54557			AK096321	CCDS3988.1	5q12.3	2013-01-10			ENSG00000197860	ENSG00000197860		"Tetratricopeptide (TTC) repeat domain containing"	23567	protein-coding gene	gene with protein product						12477932	Standard	XM_005248548		Approved	Sgt2, FLJ39002	uc003jud.3	Q96EQ0	OTTHUMG00000097801	ENST00000381007.4:c.91A>G	chr5.hg19:g.65016544T>C	ENSP00000370395:p.Ser31Gly			Missense_Mutation	SNP	ENST00000381007.4	hg19	CCDS3988.1	.	.	.	.	.	.	.	.	.	.	T	13.30	2.197350	0.38806	.	.	ENSG00000197860	ENST00000381007;ENST00000506816	T;T	0.68181	-0.31;-0.23	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.66713	0.2817	M	0.62723	1.935	0.80722	D	1	B	0.27679	0.185	B	0.32342	0.144	T	0.67393	-0.5682	10	0.56958	D	0.05	-12.5719	14.3443	0.66649	0.0:0.0:0.0:1.0	.	31	Q96EQ0	SGTB_HUMAN	G	31	ENSP00000370395:S31G;ENSP00000421447:S31G	ENSP00000370395:S31G	S	-	1	0	SGTB	65052300	1.000000	0.71417	1.000000	0.80357	0.490000	0.33462	6.128000	0.71650	2.020000	0.59435	0.455000	0.32223	AGT		0.353	SGTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215057.2	NM_019072		C	65016544	T	C	65016544	3	2	812	1	0	0	0	0	1	0	0	0	14232	1609	56	3	863	3	SGTB	5	65016544	Missense_Mutation	SNP	T	TCGA-UZ-A9Q1-01A-11D-A42J-10		65016544	115898716	18	48638											
OTP	23440	hgsc.bcm.edu	37	5	76926470	76926470	+	Silent	SNP	C	C	T			TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chr5:76926470C>T	ENST00000306422.3	-	3	1735	c.597G>A	c.(595-597)ctG>ctA	p.L199L		NM_032109.2	NP_115485.1	Q5XKR4	OTP_HUMAN	orthopedia homeobox	199					forebrain neuron differentiation (GO:0021879)|hypothalamus cell differentiation (GO:0021979)|neurohypophysis development (GO:0021985)|positive regulation of neuroblast proliferation (GO:0002052)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)	13		all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41)		GGAAAGAGCACAGGCTGTCGC	0.741																																																0													4	5	5					5																	76926470		1672	3596	5268	SO:0001819	synonymous_variant	23440				CCDS4039.1	5q14.1	2011-06-20	2007-02-15		ENSG00000171540	ENSG00000171540		"Homeoboxes / PRD class"	8518	protein-coding gene	gene with protein product		604529	"orthopedia homolog (Drosophila)"			10458915	Standard	NM_032109		Approved		uc003kfg.3	Q5XKR4	OTTHUMG00000102171	ENST00000306422.3:c.597G>A	chr5.hg19:g.76926470C>T				Silent	SNP	ENST00000306422.3	hg19	CCDS4039.1																																																																																				0.741	OTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220016.2			T	76926470	C	T	76926470	2	4	812	1	0	0	0	0	0	0	0	1	11312	465	17	2		2	OTP	5	76926470	Silent	SNP	C	TCGA-UZ-A9Q1-01A-11D-A42J-10	11909926	76926470	103988790	19	48639											
ZFYVE16	9765	hgsc.bcm.edu	37	5	79743873	79743873	+	Missense_Mutation	SNP	C	C	T			TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chr5:79743873C>T	ENST00000338008.5	+	7	2933	c.2753C>T	c.(2752-2754)tCt>tTt	p.S918F	ZFYVE16_ENST00000505560.1_Missense_Mutation_p.S918F|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.S918F	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	918					BMP signaling pathway (GO:0030509)|endosomal transport (GO:0016197)|protein targeting to lysosome (GO:0006622)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|early endosome membrane (GO:0031901)|intracellular membrane-bounded organelle (GO:0043231)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein transporter activity (GO:0008565)			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		CATTCCCATTCTACTACAGTG	0.323																																					Melanoma(150;1452 1854 16018 17851 37292)											0													71	70	70					5																	79743873		2203	4300	6503	SO:0001583	missense	9765			AB002303	CCDS4050.1	5q14.1	2012-09-20			ENSG00000039319	ENSG00000039319		"Zinc fingers, FYVE domain containing", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	20756	protein-coding gene	gene with protein product	"endofin", "protein phosphatase 1, regulatory subunit 69"	608880				11546807	Standard	NM_014733		Approved	KIAA0305, PPP1R69	uc003kgq.4	Q7Z3T8	OTTHUMG00000108178	ENST00000338008.5:c.2753C>T	chr5.hg19:g.79743873C>T	ENSP00000337159:p.Ser918Phe		O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Missense_Mutation	SNP	ENST00000338008.5	hg19	CCDS4050.1	.	.	.	.	.	.	.	.	.	.	C	12.75	2.031051	0.35797	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	T;T;T	0.40476	1.03;1.03;1.03	5.43	4.56	0.56223	.	0.218052	0.32901	N	0.005502	T	0.38746	0.1052	M	0.62723	1.935	0.24063	N	0.996004	B	0.15473	0.013	B	0.10450	0.005	T	0.39881	-0.9592	10	0.66056	D	0.02	-5.2169	7.9596	0.30064	0.0:0.7529:0.161:0.0861	.	918	Q7Z3T8	ZFY16_HUMAN	F	918	ENSP00000337159:S918F;ENSP00000423663:S918F;ENSP00000426848:S918F	ENSP00000337159:S918F	S	+	2	0	ZFYVE16	79779629	0.001000	0.12720	0.770000	0.31555	0.998000	0.95712	0.510000	0.22723	1.440000	0.47531	0.650000	0.86243	TCT		0.323	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226982.2	NM_014733		T	79743873	C	T	79743873	3	4	812	1	0	0	0	0	1	0	0	0	17669	913	32	2	2775	2	ZFYVE16	5	79743873	Missense_Mutation	SNP	C	TCGA-UZ-A9Q1-01A-11D-A42J-10	2817403	79743873	101171387	20	48640											
MRS2	57380	hgsc.bcm.edu	37	6	24423170	24423170	+	Silent	SNP	T	T	C			TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chr6:24423170T>C	ENST00000378386.3	+	10	1206	c.1113T>C	c.(1111-1113)caT>caC	p.H371H	MRS2_ENST00000378353.1_Silent_p.H371H|MRS2_ENST00000274747.7_3'UTR|MRS2_ENST00000543597.1_Silent_p.H80H|MRS2_ENST00000443868.2_Silent_p.H374H|MRS2_ENST00000535061.1_Silent_p.H321H	NM_020662.2	NP_065713.1	Q9HD23	MRS2_HUMAN	MRS2 magnesium transporter	371						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	magnesium ion transmembrane transporter activity (GO:0015095)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						TTTAGGACCATAGAATTTTTT	0.443																																																0													146	136	139					6																	24423170		2203	4300	6503	SO:0001819	synonymous_variant	57380			AF288288	CCDS4552.1, CCDS69055.1, CCDS69056.1, CCDS75408.1	6p22.3-p22.1	2013-05-03	2013-05-03	2008-01-18	ENSG00000124532	ENSG00000124532			13785	protein-coding gene	gene with protein product			"MRS2-like, magnesium homeostasis factor (S. cerevisiae)", "MRS2 magnesium homeostasis factor homolog (S. cerevisiae)"	MRS2L			Standard	XM_005249242		Approved		uc003neb.3	Q9HD23	OTTHUMG00000014355	ENST00000378386.3:c.1113T>C	chr6.hg19:g.24423170T>C			A8K4U3|B3KNN2|B4DQL2|Q5T3Y1|Q6NTG4|Q96KF8|Q9BVP1	Silent	SNP	ENST00000378386.3	hg19	CCDS4552.1																																																																																				0.443	MRS2-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040002.1			C	24423170	T	C	24423170	2	2	812	1	0	0	0	0	0	0	0	1	9853	1403	49	3		3	MRS2	6	24423170	Silent	SNP	T	TCGA-UZ-A9Q1-01A-11D-A42J-10		24423170	146691897	21	48641											
PCMT1	5110	hgsc.bcm.edu	37	6	150070882	150070883	+	5'UTR	INS	-	-	GCGGCA			TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chr6:150070882_150070883insGCGGCA	ENST00000367380.5	+	0	52_53				PCMT1_ENST00000367378.1_In_Frame_Ins_p.9_10insGS|PCMT1_ENST00000464889.1_In_Frame_Ins_p.9_10insGS|NUP43_ENST00000463048.3_5'Flank|PCMT1_ENST00000367384.2_In_Frame_Ins_p.9_10insGS|PCMT1_ENST00000544496.1_5'Flank	NM_001252049.1|NM_001252050.1|NM_001252051.1|NM_001252052.1|NM_005389.2	NP_001238978.1|NP_001238979.1|NP_001238980.1|NP_001238981.1|NP_005380.2	P22061	PIMT_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase						protein methylation (GO:0006479)|protein repair (GO:0030091)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			kidney(1)|large_intestine(2)|lung(4)|ovary(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.221)	OV - Ovarian serous cystadenocarcinoma(155;5.63e-13)|GBM - Glioblastoma multiforme(68;0.207)		AGCGCgcagtggcggcagcggc	0.743																																																0																																										SO:0001623	5_prime_UTR_variant	5110				CCDS5219.1, CCDS5219.2, CCDS59041.1, CCDS75533.1, CCDS75534.1	6q22.3-q24	2008-02-05			ENSG00000120265	ENSG00000120265	2.1.1.77		8728	protein-coding gene	gene with protein product		176851				1478665, 10343128	Standard	NM_005389		Approved		uc003qne.3	P22061	OTTHUMG00000015794	ENST00000367380.5:c.-155->GCGGCA	chr6.hg19:g.150070883_150070888dupGCGGCA			A8K109|J3KP72|Q14661|Q16556|Q5VYC1|Q5VYC2|Q93061|Q96II9|Q99625|Q9BQV7|Q9BQV8|Q9NP03	In_Frame_Ins	INS	ENST00000367380.5	hg19																																																																																					0.743	PCMT1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				GCGGCA	150070883	-	GCGGCA	150070882	6	5	812	0	1	1	1	0	0	0	0	0	11587	1348	47	0		0	PCMT1	6	150070882	5'UTR	INS	-	TCGA-UZ-A9Q1-01A-11D-A42J-10	125647712	150070882	21044185	22	48642											
OPRM1	4988	hgsc.bcm.edu	37	6	154360579	154360579	+	De_novo_Start_OutOfFrame	SNP	T	T	A			TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chr6:154360579T>A	ENST00000330432.7	+	0	137				OPRM1_ENST00000452687.2_5'Flank|OPRM1_ENST00000360422.4_De_novo_Start_OutOfFrame|OPRM1_ENST00000414028.2_5'Flank|OPRM1_ENST00000435918.2_5'Flank|OPRM1_ENST00000428397.2_De_novo_Start_OutOfFrame|OPRM1_ENST00000434900.2_Missense_Mutation_p.L60Q|OPRM1_ENST00000520708.1_Intron|OPRM1_ENST00000337049.4_5'Flank|OPRM1_ENST00000523520.1_3'UTR|OPRM1_ENST00000518759.1_Intron|OPRM1_ENST00000229768.5_5'Flank|OPRM1_ENST00000524163.1_5'Flank|OPRM1_ENST00000419506.2_5'Flank	NM_000914.3	NP_000905.3	P35372	OPRM_HUMAN	opioid receptor, mu 1						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)	CAGCAGGAGCTGTGGCAGCGG	0.617																																																0													27	40	36					6																	154360579		692	1591	2283			4988			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.-101T>A	chr6.hg19:g.154360579T>A			B0FXJ1|B2R9S7|B8Q1L7|B8Q1L8|B8Q1L9|E7EWZ3|G8XRH6|G8XRH8|Q12930|Q4VWM1|Q4VWM2|Q4VWM3|Q4VWM4|Q4VWM6|Q4VWX6|Q5TDA1|Q6UPP1|Q6UQ80|Q7Z2D8|Q86V80|Q8IWW3|Q8IWW4|Q9UCZ4|Q9UN57	Missense_Mutation	SNP	ENST00000330432.7	hg19	CCDS55070.1	.	.	.	.	.	.	.	.	.	.	T	13.40	2.225525	0.39300	.	.	ENSG00000112038	ENST00000520282;ENST00000434900	T;T	0.74632	3.71;-0.86	5.53	-5.34	0.02705	.	6.095000	0.00166	N	0.000003	T	0.28067	0.0692	N	0.08118	0	0.21020	N	0.999808	B	0.06786	0.001	B	0.08055	0.003	T	0.28650	-1.0037	10	0.72032	D	0.01	.	2.5601	0.04770	0.2319:0.4117:0.1184:0.2379	.	60	P35372-10	.	Q	15;60	ENSP00000430247:L15Q;ENSP00000394624:L60Q	ENSP00000394624:L60Q	L	+	2	0	OPRM1	154402272	0.000000	0.05858	0.005000	0.12908	0.091000	0.18340	-1.532000	0.02217	-0.475000	0.06852	0.528000	0.53228	CTG		0.617	OPRM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042786.2	NM_000914		A	154360579	T	A	154360579	1	1	812	1	0	1	0	0	0	0	0	0	10889	1580	55	5		5	OPRM1	6	154360579	De_novo_Start_OutOfFrame	SNP	T	TCGA-UZ-A9Q1-01A-11D-A42J-10	4289697	154360579	16754488	23	48643											
CNKSR3	154043	hgsc.bcm.edu	37	6	154732219	154732219	+	Silent	SNP	A	A	C			TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chr6:154732219A>C	ENST00000607772.1	-	11	1672	c.1128T>G	c.(1126-1128)ccT>ccG	p.P376P	CNKSR3_ENST00000479339.1_Silent_p.P296P|CNKSR3_ENST00000433165.2_Silent_p.P201P	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	376	DUF1170.				negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)	cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		CCTTAGGACCAGGCAATGGTT	0.463																																																0													95	95	95					6																	154732219		2203	4300	6503	SO:0001819	synonymous_variant	154043			AK055911	CCDS5246.1	6q25.2	2013-01-10	2005-04-11	2005-04-11	ENSG00000153721	ENSG00000153721		"Sterile alpha motif (SAM) domain containing"	23034	protein-coding gene	gene with protein product			"membrane associated guanylate kinase interacting protein-like 1"	MAGI1			Standard	NM_173515		Approved	FLJ31349		Q6P9H4	OTTHUMG00000015873	ENST00000607772.1:c.1128T>G	chr6.hg19:g.154732219A>C			Q5SGD5|Q96N65	Silent	SNP	ENST00000607772.1	hg19	CCDS5246.1																																																																																				0.463	CNKSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042792.2	NM_173515		C	154732219	A	C	154732219	2	2	812	1	0	0	0	0	0	0	0	1	3610	175	7	5		5	CNKSR3	6	154732219	Silent	SNP	A	TCGA-UZ-A9Q1-01A-11D-A42J-10	371640	154732219	16382848	24	48644											
FGFR1OP	11116	hgsc.bcm.edu	37	6	167438317	167438317	+	Missense_Mutation	SNP	A	A	G			TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chr6:167438317A>G	ENST00000366847.4	+	9	1085	c.854A>G	c.(853-855)gAt>gGt	p.D285G	FGFR1OP_ENST00000349556.4_Missense_Mutation_p.D265G|RP11-517H2.6_ENST00000609590.1_RNA	NM_007045.2	NP_008976.1	O95684	FR1OP_HUMAN	FGFR1 oncogene partner	285					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|mitotic cell cycle (GO:0000278)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein tyrosine kinase activity (GO:0061099)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|protein tyrosine kinase inhibitor activity (GO:0030292)			large_intestine(2)|ovary(1)|stomach(1)	4		Breast(66;1.48e-05)|Ovarian(120;0.0607)		OV - Ovarian serous cystadenocarcinoma(33;1.73e-19)|BRCA - Breast invasive adenocarcinoma(81;5.1e-06)|GBM - Glioblastoma multiforme(31;0.00231)		TCGCTCTCGGATGCACCCCCC	0.502			T	FGFR1	"MPD, NHL"																																		Dom	yes		6	6q27	11116	FGFR1 oncogene partner (FOP)		L	0													132	146	141					6																	167438317		2203	4300	6503	SO:0001583	missense	11116			Y18046	CCDS5296.1, CCDS5297.1, CCDS75550.1	6q27	2008-02-05			ENSG00000213066	ENSG00000213066			17012	protein-coding gene	gene with protein product		605392				9949182, 10373756	Standard	NM_007045		Approved	FOP	uc003qvj.3	O95684	OTTHUMG00000016011	ENST00000366847.4:c.854A>G	chr6.hg19:g.167438317A>G	ENSP00000355812:p.Asp285Gly		A8K1D1|B2R705|Q49AI0|Q5R3F6|Q96EW1	Missense_Mutation	SNP	ENST00000366847.4	hg19	CCDS5296.1	.	.	.	.	.	.	.	.	.	.	A	13.53	2.266096	0.40095	.	.	ENSG00000213066	ENST00000366847;ENST00000420493;ENST00000349556	T;T	0.31247	1.5;1.5	5.3	4.11	0.48088	.	0.629098	0.17100	N	0.187033	T	0.32823	0.0842	M	0.65975	2.015	0.09310	N	1	D;D;D	0.67145	0.996;0.984;0.973	P;P;P	0.62649	0.905;0.857;0.767	T	0.13899	-1.0492	10	0.41790	T	0.15	-15.1292	10.3254	0.43790	0.6821:0.3179:0.0:0.0	.	238;265;285	E7ET71;O95684-2;O95684	.;.;FR1OP_HUMAN	G	285;238;265	ENSP00000355812:D285G;ENSP00000230248:D265G	ENSP00000230248:D265G	D	+	2	0	FGFR1OP	167358307	0.945000	0.32115	0.000000	0.03702	0.262000	0.26303	3.526000	0.53509	0.813000	0.34350	0.443000	0.29094	GAT		0.502	FGFR1OP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043099.2	NM_007045		G	167438317	A	G	167438317	3	3	812	1	0	0	0	0	1	0	0	0	5866	333	12	3	888	3	FGFR1OP	6	167438317	Missense_Mutation	SNP	A	TCGA-UZ-A9Q1-01A-11D-A42J-10	12706098	167438317	3676750	25	48645											
AEBP1	165	hgsc.bcm.edu	37	7	44150559	44150559	+	Silent	SNP	C	C	A			TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chr7:44150559C>A	ENST00000223357.3	+	13	1838	c.1533C>A	c.(1531-1533)ctC>ctA	p.L511L	MIR4649_ENST00000582839.1_RNA|AEBP1_ENST00000450684.2_Silent_p.L54L	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	511	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.|Interaction with MAPK1 and MAPK3. {ECO:0000250}.|Required for DNA-binding and interaction with NFKBIA. {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						TGAGTGAGCTCCCAGAGCCGG	0.637																																																0													93	85	87					7																	44150559		2203	4300	6503	SO:0001819	synonymous_variant	165			D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"aortic carboxypeptidase-like protein", "adipocyte enhancer binding protein 1"	602981	"AE-binding protein 1"			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.1533C>A	chr7.hg19:g.44150559C>A			Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Silent	SNP	ENST00000223357.3	hg19	CCDS5476.1																																																																																				0.637	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	NM_001129		A	44150559	C	A	44150559	2	1	812	1	0	0	0	0	0	0	0	1	349	842	30	4		4	AEBP1	7	44150559	Silent	SNP	C	TCGA-UZ-A9Q1-01A-11D-A42J-10		44150559	114988104	26	48646											
PTPN12	5782	hgsc.bcm.edu	37	7	77256523	77256523	+	Silent	SNP	T	T	A			TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chr7:77256523T>A	ENST00000248594.6	+	13	1799	c.1527T>A	c.(1525-1527)acT>acA	p.T509T	PTPN12_ENST00000415482.2_Silent_p.T390T|PTPN12_ENST00000435495.2_Silent_p.T379T	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	509					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						TTTCAGTTACTCCACCAGAAG	0.438																																																0													71	67	68					7																	77256523		2203	4300	6503	SO:0001819	synonymous_variant	5782				CCDS5592.1, CCDS47619.1, CCDS47620.1	7q11.23	2011-06-09			ENSG00000127947	ENSG00000127947		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9645	protein-coding gene	gene with protein product		600079				7509295	Standard	NM_002835		Approved	PTPG1, PTP-PEST	uc003ugh.2	Q05209	OTTHUMG00000023501	ENST00000248594.6:c.1527T>A	chr7.hg19:g.77256523T>A			A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4	Silent	SNP	ENST00000248594.6	hg19	CCDS5592.1																																																																																				0.438	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253183.3			A	77256523	T	A	77256523	2	1	812	1	0	0	0	0	0	0	0	1	12787	1538	54	5		5	PTPN12	7	77256523	Silent	SNP	T	TCGA-UZ-A9Q1-01A-11D-A42J-10	33105964	77256523	81882140	27	48647											
STEAP4	79689	hgsc.bcm.edu	37	7	87913338	87913349	+	In_Frame_Del	DEL	TGTGGATTGCTA	TGTGGATTGCTA	-	rs149348409	byFrequency	TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	TGTGGATTGCTA	TGTGGATTGCTA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chr7:87913338_87913349delTGTGGATTGCTA	ENST00000380079.4	-	2	337_348	c.236_247delTAGCAATCCACA	c.(235-249)atagcaatccacaga>aga	p.IAIH79del	AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000434733.1_RNA|AC003991.3_ENST00000447758.1_RNA|STEAP4_ENST00000414498.1_In_Frame_Del_p.IAIH79del|STEAP4_ENST00000301959.5_In_Frame_Del_p.IAIH79del|AC003991.3_ENST00000600908.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	79					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)					TAATGCTCTCTGTGGATTGCTATGATTATGAT	0.415																																																0																																										SO:0001651	inframe_deletion	79689			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.236_247delTAGCAATCCACA	chr7.hg19:g.87913338_87913349delTGTGGATTGCTA	ENSP00000369419:p.Ile79_His82del		Q658Q9|Q687X4|Q8WWB0|Q9H5R1	In_Frame_Del	DEL	ENST00000380079.4	hg19	CCDS43611.1																																																																																				0.415	STEAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332712.4	NM_024636		-	87913349	TGTGGATTGCTA	-	87913338	7	5	812	1	0	1	0	1	0	0	0	0	15285	1588	55	0	1148	0	STEAP4	7	87913338	In_Frame_Del	DEL	TGTGGATTGCTA	TCGA-UZ-A9Q1-01A-11D-A42J-10	10656815	87913338	71225325	28	48648											
CCDC132	55610	hgsc.bcm.edu	37	7	92885845	92885845	+	Missense_Mutation	SNP	A	A	G			TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chr7:92885845A>G	ENST00000305866.5	+	5	450	c.322A>G	c.(322-324)Atc>Gtc	p.I108V	CCDC132_ENST00000251739.5_Missense_Mutation_p.I108V|CCDC132_ENST00000541136.1_5'UTR|CCDC132_ENST00000317751.6_5'UTR|CCDC132_ENST00000535481.1_Intron|CCDC132_ENST00000544910.1_Missense_Mutation_p.I78V	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	108						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			GGCAGATTTAATCCTTGAAAA	0.254																																																0													52	58	56					7																	92885845		2199	4281	6480	SO:0001583	missense	55610			AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.322A>G	chr7.hg19:g.92885845A>G	ENSP00000307666:p.Ile108Val		B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Missense_Mutation	SNP	ENST00000305866.5	hg19	CCDS43617.1	.	.	.	.	.	.	.	.	.	.	A	15.49	2.847997	0.51164	.	.	ENSG00000004766	ENST00000251739;ENST00000305866;ENST00000544910;ENST00000458530	.	.	.	5.52	5.52	0.82312	Vacuolar protein sorting-associated protein 54 (1);	0.000000	0.85682	D	0.000000	T	0.56848	0.2013	N	0.25426	0.745	0.80722	D	1	P;P;P	0.48407	0.65;0.699;0.91	P;P;B	0.58130	0.743;0.833;0.377	T	0.50617	-0.8807	9	0.06365	T	0.9	-9.0769	15.9527	0.79855	1.0:0.0:0.0:0.0	.	78;108;108	F5H5U7;Q96JG6;Q96JG6-2	.;CC132_HUMAN;.	V	108;108;78;107	.	ENSP00000251739:I108V	I	+	1	0	CCDC132	92723781	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.183000	0.89700	2.234000	0.73211	0.460000	0.39030	ATC		0.254	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667		G	92885845	A	G	92885845	3	3	812	1	0	0	0	0	1	0	0	0	2769	101	4	3	340	3	CCDC132	7	92885845	Missense_Mutation	SNP	A	TCGA-UZ-A9Q1-01A-11D-A42J-10	4972507	92885845	66252818	29	48649											
TMUB1	83590	hgsc.bcm.edu	37	7	150779559	150779559	+	Missense_Mutation	SNP	G	G	C			TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chr7:150779559G>C	ENST00000392818.3	-	2	449	c.92C>G	c.(91-93)aCg>aGg	p.T31R	FASTK_ENST00000540185.1_5'Flank|FASTK_ENST00000482571.1_5'Flank|FASTK_ENST00000353841.2_5'Flank|FASTK_ENST00000297532.6_5'Flank|FASTK_ENST00000489884.1_5'Flank|TMUB1_ENST00000476627.1_Missense_Mutation_p.T31R|TMUB1_ENST00000462940.1_Missense_Mutation_p.T31R|TMUB1_ENST00000482202.1_Missense_Mutation_p.T31R|TMUB1_ENST00000297533.4_Missense_Mutation_p.T31R	NM_031434.3	NP_113622.1	Q9BVT8	TMUB1_HUMAN	transmembrane and ubiquitin-like domain containing 1	31						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)		AGCGGTGTGCGTTGAGACCCA	0.662																																																0													62	64	63					7																	150779559		2203	4300	6503	SO:0001583	missense	83590			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.92C>G	chr7.hg19:g.150779559G>C	ENSP00000376565:p.Thr31Arg		D3DX06|Q53AQ2	Missense_Mutation	SNP	ENST00000392818.3	hg19	CCDS5920.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.129878	0.77549	.	.	ENSG00000164897	ENST00000297533;ENST00000392818;ENST00000462940;ENST00000482202;ENST00000476627;ENST00000488752;ENST00000492838	T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91	4.83	3.95	0.45737	.	0.067439	0.64402	D	0.000018	T	0.58235	0.2108	M	0.74467	2.265	0.51767	D	0.999931	D	0.63880	0.993	P	0.60236	0.871	T	0.62215	-0.6901	10	0.87932	D	0	.	10.8464	0.46744	0.0934:0.0:0.9066:0.0	.	31	Q9BVT8	TMUB1_HUMAN	R	31	ENSP00000297533:T31R;ENSP00000376565:T31R;ENSP00000417519:T31R;ENSP00000418709:T31R;ENSP00000419214:T31R;ENSP00000420692:T31R;ENSP00000420516:T31R	ENSP00000297533:T31R	T	-	2	0	TMUB1	150410492	1.000000	0.71417	0.983000	0.44433	0.969000	0.65631	6.693000	0.74582	1.035000	0.39972	0.305000	0.20034	ACG		0.662	TMUB1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351485.1	NM_031434		C	150779559	G	C	150779559	3	2	812	1	0	0	0	0	1	0	0	0	16269	1145	40	4	656	4	TMUB1	7	150779559	Missense_Mutation	SNP	G	TCGA-UZ-A9Q1-01A-11D-A42J-10	57893714	150779559	8359104	30	48650											
MLL3	58508	hgsc.bcm.edu	37	7	151853289	151853289	+	Splice_Site	SNP	C	C	T			TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chr7:151853289C>T	ENST00000262189.6	-	45	12031		c.e45+1		KMT2C_ENST00000485241.1_5'Flank|KMT2C_ENST00000355193.2_Splice_Site	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C						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)										TATAATCATACCTTCATGGCT	0.438																																																0													137	139	138					7																	151853289		2203	4300	6503	SO:0001630	splice_region_variant	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.11812+1G>A	chr7.hg19:g.151853289C>T			Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Splice_Site	SNP	ENST00000262189.6	hg19	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	19.17	3.775125	0.70107	.	.	ENSG00000055609	ENST00000360104;ENST00000262189;ENST00000355193;ENST00000424877;ENST00000418061	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.077	0.89430	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MLL3	151484222	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	4.000000	0.57039	2.717000	0.92951	0.655000	0.94253	.		0.438	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3		Intron	T	151853289	C	T	151853289	5	4	812	1	0	0	0	0	0	0	1	0	9624	521	18	2	2982	2	MLL3	7	151853289	Splice_Site	SNP	C	TCGA-UZ-A9Q1-01A-11D-A42J-10	1073730	151853289	7285374	31	48651											
SORBS3	10174	hgsc.bcm.edu	37	8	22432205	22432205	+	Silent	SNP	C	C	T			TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chr8:22432205C>T	ENST00000240123.7	+	21	2363	c.1980C>T	c.(1978-1980)ttC>ttT	p.F660F	SORBS3_ENST00000428103.1_Silent_p.F318F	NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3	660	Binds to SOS.|SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|muscle contraction (GO:0006936)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytoskeleton organization (GO:0051495)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of stress fiber assembly (GO:0051496)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		CCCAGAAATTCGGAACGTTCC	0.607											OREG0018613	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													141	137	138					8																	22432205		2203	4300	6503	SO:0001819	synonymous_variant	10174				CCDS6031.1	8p21.3	2008-02-05			ENSG00000120896	ENSG00000120896			30907	protein-coding gene	gene with protein product		610795				9885244, 12510380	Standard	NM_001018003		Approved	SCAM-1, SH3D4, vinexin	uc003xbv.3	O60504	OTTHUMG00000131728	ENST00000240123.7:c.1980C>T	chr8.hg19:g.22432205C>T		756	Q5BJE4|Q6NX54|Q96FY4|Q9UQE4	Silent	SNP	ENST00000240123.7	hg19	CCDS6031.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.883|9.883	1.202193|1.202193	0.22121|0.22121	.|.	.|.	ENSG00000120896|ENSG00000120896	ENST00000519127|ENST00000517962;ENST00000520207	.|.	.|.	.|.	5.4|5.4	-0.357|-0.357	0.12579|0.12579	.|.	.|.	.|.	.|.	.|.	T|T	0.55970|0.55970	0.1954|0.1954	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.50955|0.50955	-0.8766|-0.8766	5|4	0.87932|.	D|.	0|.	-9.7988|-9.7988	9.8167|9.8167	0.40858|0.40858	0.0:0.3502:0.0:0.6498|0.0:0.3502:0.0:0.6498	.|.	.|.	.|.	.|.	W|L	38|172;88	.|.	ENSP00000428930:R38W|.	R|S	+|+	1|2	2|0	SORBS3|SORBS3	22488150|22488150	0.993000|0.993000	0.37304|0.37304	1.000000|1.000000	0.80357|0.80357	0.439000|0.439000	0.31926|0.31926	0.168000|0.168000	0.16622|0.16622	0.093000|0.093000	0.17368|0.17368	-0.982000|-0.982000	0.02568|0.02568	CGG|TCG		0.607	SORBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254647.3	NM_005775		T	22432205	C	T	22432205	2	4	812	1	0	0	0	0	0	0	0	1	14935	883	31	1		1	SORBS3	8	22432205	Silent	SNP	C	TCGA-UZ-A9Q1-01A-11D-A42J-10		22432205	123931817	32	48652											
GSR	2936	hgsc.bcm.edu	37	8	30537066	30537066	+	Missense_Mutation	SNP	A	A	G			TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chr8:30537066A>G	ENST00000221130.5	-	13	1630	c.1540T>C	c.(1540-1542)Tct>Cct	p.S514P	GSR_ENST00000414019.1_Missense_Mutation_p.S471P|GSR_ENST00000541648.1_Missense_Mutation_p.S461P|GSR_ENST00000537535.1_Missense_Mutation_p.S432P|GSR_ENST00000546342.1_Missense_Mutation_p.S485P	NM_000637.3|NM_001195102.1|NM_001195103.1	NP_000628.2|NP_001182031.1|NP_001182032.1	P00390	GSHR_HUMAN	glutathione reductase	514					cell redox homeostasis (GO:0045454)|glutathione metabolic process (GO:0006749)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|glutathione-disulfide reductase activity (GO:0004362)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	23				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Flavin adenine dinucleotide(DB03147)|Glutathione(DB00143)	TCTTCTGAAGAGGTAGGGTGA	0.493																																																0													170	132	145					8																	30537066		2203	4300	6503	SO:0001583	missense	2936				CCDS34877.1, CCDS56530.1, CCDS56531.1, CCDS56532.1	8p21.1	2012-10-02			ENSG00000104687	ENSG00000104687	1.8.1.7		4623	protein-coding gene	gene with protein product		138300					Standard	NM_000637		Approved		uc003xih.2	P00390	OTTHUMG00000163946	ENST00000221130.5:c.1540T>C	chr8.hg19:g.30537066A>G	ENSP00000221130:p.Ser514Pro		C8KIL8|C8KIL9|C8KIM0|D3DSV3|Q7Z5C9|Q9NP63	Missense_Mutation	SNP	ENST00000221130.5	hg19	CCDS34877.1	.	.	.	.	.	.	.	.	.	.	A	29.1	4.976636	0.92982	.	.	ENSG00000104687	ENST00000221130;ENST00000414019;ENST00000546342;ENST00000541648;ENST00000537535	D;D;D;D;D	0.92752	-3.1;-3.1;-3.1;-3.1;-3.1	5.34	5.34	0.76211	FAD/NAD-linked reductase, dimerisation (1);Pyridine nucleotide-disulphide oxidoreductase, dimerisation (2);	0.000000	0.85682	D	0.000000	D	0.97117	0.9058	H	0.95470	3.675	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97953	1.0333	10	0.66056	D	0.02	-17.0472	13.5686	0.61832	1.0:0.0:0.0:0.0	.	514	P00390	GSHR_HUMAN	P	514;471;485;461;432	ENSP00000221130:S514P;ENSP00000390065:S471P;ENSP00000445516:S485P;ENSP00000444559:S461P;ENSP00000438845:S432P	ENSP00000221130:S514P	S	-	1	0	GSR	30656608	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.577000	0.90773	2.160000	0.67779	0.454000	0.30748	TCT		0.493	GSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376519.1			G	30537066	A	G	30537066	3	3	812	1	0	0	0	0	1	0	0	0	6830	304	11	3	32	3	GSR	8	30537066	Missense_Mutation	SNP	A	TCGA-UZ-A9Q1-01A-11D-A42J-10	8104861	30537066	115826956	33	48653											
RORB	6096	hgsc.bcm.edu	37	9	77300383	77300383	+	Missense_Mutation	SNP	T	T	A			TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chr9:77300383T>A	ENST00000396204.2	+	10	1262	c.1262T>A	c.(1261-1263)aTa>aAa	p.I421K	RORB_ENST00000376896.3_Missense_Mutation_p.I410K			Q92753	RORB_HUMAN	RAR-related orphan receptor B	421	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)	CTGCAGTTAATAGCCAAGATA	0.478																																																0													158	148	151					9																	77300383		2203	4300	6503	SO:0001583	missense	6096			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.1262T>A	chr9.hg19:g.77300383T>A	ENSP00000379507:p.Ile421Lys		Q8WX73	Missense_Mutation	SNP	ENST00000396204.2	hg19		.	.	.	.	.	.	.	.	.	.	T	17.09	3.301008	0.60195	.	.	ENSG00000198963	ENST00000376896;ENST00000396204	D;D	0.96913	-4.17;-4.17	5.45	5.45	0.79879	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.083997	0.85682	D	0.000000	D	0.97210	0.9088	M	0.70275	2.135	0.80722	D	1	B;B	0.33748	0.423;0.353	P;P	0.48795	0.486;0.59	D	0.97590	1.0116	10	0.72032	D	0.01	.	16.226	0.82293	0.0:0.0:0.0:1.0	.	421;410	Q92753;Q58EY0	RORB_HUMAN;.	K	410;421	ENSP00000366093:I410K;ENSP00000379507:I421K	ENSP00000366093:I410K	I	+	2	0	RORB	76490203	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.564000	0.82326	2.371000	0.80710	0.533000	0.62120	ATA		0.478	RORB-201	KNOWN	basic	protein_coding	protein_coding				A	77300383	T	A	77300383	3	1	812	1	0	0	0	0	1	0	0	0	13535	1406	49	5	1267	5	RORB	9	77300383	Missense_Mutation	SNP	T	TCGA-UZ-A9Q1-01A-11D-A42J-10		77300383	63913048	34	48654											
FLJ46321	389763	hgsc.bcm.edu	37	9	84609332	84609332	+	Missense_Mutation	SNP	G	G	A			TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chr9:84609332G>A	ENST00000344803.2	+	4	3994	c.3947G>A	c.(3946-3948)cGc>cAc	p.R1316H		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1316					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											ACATCCCAACGCAGGAGAAAG	0.522																																																0													27	27	27					9																	84609332		1915	4114	6029	SO:0001583	missense	389763				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"family with sequence similarity 75, member D1"	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.3947G>A	chr9.hg19:g.84609332G>A	ENSP00000341988:p.Arg1316His			Missense_Mutation	SNP	ENST00000344803.2	hg19	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.100997	0.00360	.	.	ENSG00000214929	ENST00000344803	T	0.04917	3.53	3.17	-6.34	0.01982	.	.	.	.	.	T	0.02119	0.0066	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.35450	-0.9788	9	0.39692	T	0.17	3.2905	2.1019	0.03682	0.3168:0.1206:0.0935:0.4691	.	1316	Q6ZQQ2	F75D1_HUMAN	H	1316	ENSP00000341988:R1316H	ENSP00000341988:R1316H	R	+	2	0	FAM75D1	83799152	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-6.252000	0.00074	-4.681000	0.00036	-4.324000	0.00007	CGC		0.522	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		A	84609332	G	A	84609332	3	1	812	1	0	0	0	0	1	0	0	0	5934	1087	38	1	3961	1	FLJ46321	9	84609332	Missense_Mutation	SNP	G	TCGA-UZ-A9Q1-01A-11D-A42J-10	7308949	84609332	56604099	35	48655											
IARS	3376	hgsc.bcm.edu	37	9	95027351	95027351	+	Silent	SNP	G	G	A			TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chr9:95027351G>A	ENST00000375643.3	-	16	1826	c.1560C>T	c.(1558-1560)atC>atT	p.I520I	IARS_ENST00000375629.3_5'UTR|IARS_ENST00000443024.2_Silent_p.I520I|IARS_ENST00000447699.2_Silent_p.I410I	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	520					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)	ACACTTCAGAGATGCGGTGCA	0.448																																																0													83	69	74					9																	95027351		2203	4300	6503	SO:0001819	synonymous_variant	3376			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.1560C>T	chr9.hg19:g.95027351G>A			A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Silent	SNP	ENST00000375643.3	hg19	CCDS6694.1																																																																																				0.448	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053059.2	NM_002161		A	95027351	G	A	95027351	2	1	812	1	0	0	0	0	0	0	0	1	7475	932	33	2		2	IARS	9	95027351	Silent	SNP	G	TCGA-UZ-A9Q1-01A-11D-A42J-10	10418019	95027351	46186080	36	48656											
FAM73B	84895	hgsc.bcm.edu	37	9	131832215	131832215	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chr9:131832215C>T	ENST00000358369.4	+	15	1772	c.1546C>T	c.(1546-1548)Cag>Tag	p.Q516*	FAM73B_ENST00000277475.5_3'UTR|FAM73B_ENST00000406926.2_3'UTR	NM_032809.2	NP_116198.2	Q7L4E1	FA73B_HUMAN	family with sequence similarity 73, member B	516					bone development (GO:0060348)	integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						ACCCAAGCCTCAGCTTGCTGA	0.572																																																0													214	204	208					9																	131832215		2203	4300	6503	SO:0001587	stop_gained	84895			AK074127	CCDS6917.1	9q34.13	2008-02-05	2005-08-11	2005-08-11	ENSG00000148343	ENSG00000148343			23621	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 54"	C9orf54			Standard	NM_032809		Approved	FLJ14596, FLJ00199	uc004bxa.3	Q7L4E1	OTTHUMG00000020770	ENST00000358369.4:c.1546C>T	chr9.hg19:g.131832215C>T	ENSP00000351138:p.Gln516*		Q8NBM3|Q8TEJ6|Q969E6	Nonsense_Mutation	SNP	ENST00000358369.4	hg19	CCDS6917.1	.	.	.	.	.	.	.	.	.	.	C	38	7.196286	0.98129	.	.	ENSG00000148343	ENST00000358369	.	.	.	5.74	5.74	0.90152	.	0.050861	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	18.9022	0.92448	0.0:1.0:0.0:0.0	.	.	.	.	X	516	.	ENSP00000351138:Q516X	Q	+	1	0	FAM73B	130872036	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.736000	0.68597	2.700000	0.92200	0.655000	0.94253	CAG		0.572	FAM73B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054542.7	NM_032809		T	131832215	C	T	131832215	4	4	812	1	0	0	0	0	0	1	0	0	5620	827	29	2	1600	2	FAM73B	9	131832215	Nonsense_Mutation	SNP	C	TCGA-UZ-A9Q1-01A-11D-A42J-10	36804864	131832215	9381216	37	48657											
RAPGEF1	2889	hgsc.bcm.edu	37	9	134464315	134464315	+	Missense_Mutation	SNP	C	C	T			TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chr9:134464315C>T	ENST00000372189.3	-	17	2491	c.2368G>A	c.(2368-2370)Gtg>Atg	p.V790M	RAPGEF1_ENST00000372190.3_Missense_Mutation_p.V808M|RAPGEF1_ENST00000372195.1_Missense_Mutation_p.V807M	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	790	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				activation of MAPKK activity (GO:0000186)|blood vessel development (GO:0001568)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of Ras protein signal transduction (GO:0046580)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of neuron projection development (GO:0010976)|positive regulation of Rap GTPase activity (GO:0032854)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)	Rap guanyl-nucleotide exchange factor activity (GO:0017034)			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		CCATTGCACACCAGGCGGAAG	0.577																																																0													75	81	79					9																	134464315		2106	4237	6343	SO:0001583	missense	2889			BC041710	CCDS48047.1	9q34.3	2008-02-05	2004-03-01	2004-03-02	ENSG00000107263	ENSG00000107263			4568	protein-coding gene	gene with protein product		600303	"guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)"	GRF2		7959692, 7512734	Standard	NM_005312		Approved	C3G	uc022bos.1	Q13905	OTTHUMG00000020829	ENST00000372189.3:c.2368G>A	chr9.hg19:g.134464315C>T	ENSP00000361263:p.Val790Met		Q5JUE4|Q8IV73	Missense_Mutation	SNP	ENST00000372189.3	hg19	CCDS48047.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.9|23.9	4.472039|4.472039	0.84533|0.84533	.|.	.|.	ENSG00000107263|ENSG00000107263	ENST00000414781|ENST00000266110;ENST00000372195;ENST00000429421;ENST00000372189;ENST00000372190;ENST00000411834;ENST00000337036;ENST00000398415;ENST00000357686	.|T;T;T	.|0.30981	.|1.51;1.51;1.51	5.45|5.45	5.45|5.45	0.79879|0.79879	.|Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.51346|0.51346	0.1669|0.1669	L|L	0.49126|0.49126	1.545|1.545	0.53005|0.53005	D|D	0.999961|0.999961	.|D;D	.|0.76494	.|0.995;0.999	.|P;D	.|0.71414	.|0.901;0.973	T|T	0.51426|0.51426	-0.8707|-0.8707	5|10	.|0.87932	.|D	.|0	.|.	18.2518|18.2518	0.90006|0.90006	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|790;808	.|Q13905;Q13905-3	.|RPGF1_HUMAN;.	D|M	217|790;807;736;790;808;770;768;235;807	.|ENSP00000361269:V807M;ENSP00000361263:V790M;ENSP00000361264:V808M	.|ENSP00000266110:V790M	G|V	-|-	2|1	0|0	RAPGEF1|RAPGEF1	133454136|133454136	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	4.538000|4.538000	0.60650|0.60650	2.546000|2.546000	0.85860|0.85860	0.462000|0.462000	0.41574|0.41574	GGT|GTG		0.577	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054759.2	NM_005312		T	134464315	C	T	134464315	3	4	812	1	0	0	0	0	1	0	0	0	13049	507	18	2	897	2	RAPGEF1	9	134464315	Missense_Mutation	SNP	C	TCGA-UZ-A9Q1-01A-11D-A42J-10	2632100	134464315	6749116	38	48658											
PTEN	5728	hgsc.bcm.edu	37	10	89653783	89653783	+	Splice_Site	SNP	T	T	A			TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chr10:89653783T>A	ENST00000371953.3	+	2	1438	c.81T>A	c.(79-81)taT>taA	p.Y27*		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	27	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		Y -> S (loss of phosphatase activity towards Ins(1,3,4,5)P4).		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.?(8)|p.Y27fs*1(3)|p.Y27fs*16(1)|p.Y27*(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)		AGTACTCAGATATTTATCCAA	0.294		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	phosphatase and tensin homolog gene		"L, E, M, O"	50	Whole gene deletion(37)|Unknown(8)|Deletion - Frameshift(4)|Substitution - Nonsense(1)	prostate(14)|central_nervous_system(9)|skin(8)|haematopoietic_and_lymphoid_tissue(4)|lung(4)|ovary(3)|endometrium(2)|breast(2)|soft_tissue(1)|urinary_tract(1)|NS(1)|kidney(1)											98	98	98					10																	89653783		2203	4292	6495	SO:0001630	splice_region_variant	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.80-1T>A	chr10.hg19:g.89653783T>A			B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	ENST00000371953.3	hg19	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	T	47	13.707906	0.99758	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.19	5.19	0.71726	.	0.071107	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0135	0.64511	0.0:0.0:0.0:1.0	.	.	.	.	X	27	.	.	Y	+	3	2	PTEN	89643763	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.599000	0.67592	1.959000	0.56917	0.533000	0.62120	TAT		0.294	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	Nonsense_Mutation	A	89653783	T	A	89653783	5	1	812	1	0	0	0	0	0	0	1	0	12743	1420	49	5	87	5	PTEN	10	89653783	Splice_Site	SNP	T	TCGA-UZ-A9Q1-01A-11D-A42J-10		89653783	45880964	39	48659											
EEF1G	1937	hgsc.bcm.edu	37	11	62327757	62327757	+	Missense_Mutation	SNP	T	T	A			TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chr11:62327757T>A	ENST00000329251.4	-	8	1157	c.1027A>T	c.(1027-1029)Act>Tct	p.T343S	EEF1G_ENST00000378019.3_Missense_Mutation_p.T393S|MIR3654_ENST00000496634.2_3'UTR	NM_001404.4	NP_001395.1	P26641	EF1G_HUMAN	eukaryotic translation elongation factor 1 gamma	343	EF-1-gamma C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00519}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to virus (GO:0009615)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	translation elongation factor activity (GO:0003746)			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CTCTTACCAGTGATGAGATTG	0.498																																																0													34	31	32					11																	62327757		1982	4164	6146	SO:0001583	missense	1937			X63526	CCDS44626.1	11q12.3	2008-02-05			ENSG00000254772	ENSG00000254772			3213	protein-coding gene	gene with protein product		130593				1598220, 1461723	Standard	NM_001404		Approved	EF1G	uc001ntm.1	P26641	OTTHUMG00000167567	ENST00000329251.4:c.1027A>T	chr11.hg19:g.62327757T>A	ENSP00000331901:p.Thr343Ser		B4DTG2|Q6PJ62|Q6PK31|Q96CU2|Q9P196	Missense_Mutation	SNP	ENST00000329251.4	hg19	CCDS44626.1	.	.	.	.	.	.	.	.	.	.	T	8.114	0.779396	0.16120	.	.	ENSG00000254772	ENST00000329251;ENST00000378019;ENST00000424909	T;T	0.21932	2.01;1.98	4.7	4.7	0.59300	Translation elongation factor EF1B, gamma chain, conserved (4);	0.158521	0.53938	D	0.000048	T	0.14098	0.0341	N	0.19112	0.55	0.46542	D	0.999093	B;B;B	0.12013	0.005;0.0;0.0	B;B;B	0.22753	0.041;0.005;0.002	T	0.09684	-1.0663	10	0.22706	T	0.39	.	12.1911	0.54273	0.0:0.0:0.0:1.0	.	393;112;343	B4DTG2;B4DUP0;P26641	.;.;EF1G_HUMAN	S	343;393;112	ENSP00000331901:T343S;ENSP00000367258:T393S	ENSP00000331901:T343S	T	-	1	0	EEF1G	62084333	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	2.991000	0.49409	1.995000	0.58328	0.449000	0.29647	ACT		0.498	EEF1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395047.1	NM_001404		A	62327757	T	A	62327757	3	1	812	1	0	0	0	0	1	0	0	0	4930	1696	59	5	298	5	EEF1G	11	62327757	Missense_Mutation	SNP	T	TCGA-UZ-A9Q1-01A-11D-A42J-10		62327757	72678759	40	48660											
GPR152	390212	hgsc.bcm.edu	37	11	67219103	67219103	+	Missense_Mutation	SNP	G	G	C			TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chr11:67219103G>C	ENST00000312457.2	-	1	1097	c.1093C>G	c.(1093-1095)Cag>Gag	p.Q365E	CABP4_ENST00000438189.2_5'Flank	NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	365						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			GATCGTGGCTGGAGTGTGGGG	0.632																																					Pancreas(102;800 1581 2723 7382 33622)											0													46	44	45					11																	67219103		2200	4295	6495	SO:0001583	missense	390212			AY255600	CCDS8165.1	11q13.2	2013-09-20			ENSG00000175514	ENSG00000175514		"GPCR / Class A : Orphans"	23622	protein-coding gene	gene with protein product						12679517	Standard	NM_206997		Approved	PGR5	uc001olm.3	Q8TDT2	OTTHUMG00000168032	ENST00000312457.2:c.1093C>G	chr11.hg19:g.67219103G>C	ENSP00000310255:p.Gln365Glu		Q0VD88|Q86SM0	Missense_Mutation	SNP	ENST00000312457.2	hg19	CCDS8165.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.744684	0.49151	.	.	ENSG00000175514	ENST00000312457	T	0.07021	3.23	4.43	1.43	0.22495	.	0.186743	0.26133	N	0.026147	T	0.09423	0.0232	M	0.68952	2.095	0.22305	N	0.99922	P	0.34662	0.462	B	0.33960	0.173	T	0.16660	-1.0395	10	0.72032	D	0.01	.	6.2505	0.20843	0.0912:0.0:0.5823:0.3265	.	365	Q8TDT2	GP152_HUMAN	E	365	ENSP00000310255:Q365E	ENSP00000310255:Q365E	Q	-	1	0	GPR152	66975679	0.005000	0.15991	0.003000	0.11579	0.008000	0.06430	0.904000	0.28491	0.114000	0.18032	0.491000	0.48974	CAG		0.632	GPR152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397623.1			C	67219103	G	C	67219103	3	2	812	1	0	0	0	0	1	0	0	0	6660	1357	47	4	323	4	GPR152	11	67219103	Missense_Mutation	SNP	G	TCGA-UZ-A9Q1-01A-11D-A42J-10	4891346	67219103	67787413	41	48661											
KRTAP5-8	57830	hgsc.bcm.edu	37	11	71249532	71249532	+	Missense_Mutation	SNP	C	C	G	rs532438179|rs11234084|rs369043826	byFrequency	TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chr11:71249532C>G	ENST00000398534.3	+	1	462	c.431C>G	c.(430-432)tCc>tGc	p.S144C		NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN	keratin associated protein 5-8	144	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						CCCTGCTGTTCCCAGTCCAGC	0.612																																																0													148	160	156					11																	71249532		2200	4294	6494	SO:0001583	missense	57830			AB126077	CCDS41683.1	11q13.4	2008-02-05			ENSG00000241233	ENSG00000241233		"Keratin associated proteins"	23603	protein-coding gene	gene with protein product						15144888	Standard	NM_021046		Approved	KRTAP5.8, UHSKerB, KRTAP5-2	uc001oqr.1	O75690	OTTHUMG00000057571	ENST00000398534.3:c.431C>G	chr11.hg19:g.71249532C>G	ENSP00000420723:p.Ser144Cys		Q6L8G7|Q6UTX6	Missense_Mutation	SNP	ENST00000398534.3	hg19	CCDS41683.1	.	.	.	.	.	.	.	.	.	.	-	3.125	-0.179750	0.06380	.	.	ENSG00000241233	ENST00000398534	T	0.01197	5.19	1.57	-2.99	0.05497	.	.	.	.	.	T	0.00552	0.0018	N	0.02213	-0.635	0.21861	N	0.999505	B	0.02656	0.0	B	0.01281	0.0	T	0.44314	-0.9336	9	0.02654	T	1	.	12.0511	0.53507	0.0:0.7645:0.2355:0.0	rs11234084	144	O75690	KRA58_HUMAN	C	144	ENSP00000420723:S144C	ENSP00000420723:S144C	S	+	2	0	KRTAP5-8	70927180	0.000000	0.05858	0.375000	0.26029	0.014000	0.08584	-0.627000	0.05521	-0.723000	0.04915	-0.951000	0.02657	TCC		0.612	KRTAP5-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127954.1	NM_021046		G	71249532	C	G	71249532	3	3	812	1	0	0	0	0	1	0	0	0	8569	855	30	4	433	4	KRTAP5-8	11	71249532	Missense_Mutation	SNP	C	TCGA-UZ-A9Q1-01A-11D-A42J-10	4030429	71249532	63756984	42	48662											
C11orf63	79864	hgsc.bcm.edu	37	11	122830003	122830007	+	Frame_Shift_Del	DEL	GACTC	GACTC	-	rs369261311		TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	GACTC	GACTC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chr11:122830003_122830007delGACTC	ENST00000531316.1	+	8	2279_2283	c.2187_2191delGACTC	c.(2185-2193)ctgactcatfs	p.TH730fs	C11orf63_ENST00000227349.2_Frame_Shift_Del_p.TH730fs			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	730					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)		CATCAAATCTGACTCATCAAGCATC	0.4																																																0																																										SO:0001589	frameshift_variant	79864			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.2187_2191delGACTC	chr11.hg19:g.122830003_122830007delGACTC	ENSP00000431669:p.Thr730fs		A8K6G0|Q96GB5|Q9H5D6	Frame_Shift_Del	DEL	ENST00000531316.1	hg19	CCDS8438.1																																																																																				0.4	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387511.1	NM_024806		-	122830007	GACTC	-	122830003	7	5	812	1	0	1	0	1	0	0	0	0	1656	1277	45	0	2281	0	C11orf63	11	122830003	Frame_Shift_Del	DEL	GACTC	TCGA-UZ-A9Q1-01A-11D-A42J-10	51580471	122830003	12176513	43	48663											
HSPA8	3312	hgsc.bcm.edu	37	11	122930962	122930962	+	Silent	SNP	A	A	G			TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chr11:122930962A>G	ENST00000532636.1	-	4	545	c.426T>C	c.(424-426)gcT>gcC	p.A142A	HSPA8_ENST00000227378.3_Silent_p.A142A|SNORD14E_ENST00000364009.1_RNA|HSPA8_ENST00000533540.1_Intron|HSPA8_ENST00000534624.1_Silent_p.A142A|SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000453788.2_Silent_p.A142A|HSPA8_ENST00000526110.1_Intron|HSPA8_ENST00000534319.1_5'UTR|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000526862.1_5'Flank			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	142					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)		CTGTGACCACAGCATTGGTAA	0.393																																					Colon(21;486 594 5900 6733 14272)											0													64	62	62					11																	122930962		2202	4299	6501	SO:0001819	synonymous_variant	3312			Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"Heat shock proteins / HSP70"	5241	protein-coding gene	gene with protein product		600816	"heat shock 70kD protein 8"	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.426T>C	chr11.hg19:g.122930962A>G			Q9H3R6	Silent	SNP	ENST00000532636.1	hg19	CCDS8440.1																																																																																				0.393	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1			G	122930962	A	G	122930962	2	3	812	1	0	0	0	0	0	0	0	1	7418	175	7	3		3	HSPA8	11	122930962	Silent	SNP	A	TCGA-UZ-A9Q1-01A-11D-A42J-10	100959	122930962	12075554	44	48664											
ARHGAP32	9743	hgsc.bcm.edu	37	11	128840378	128840379	+	Frame_Shift_Ins	INS	-	-	AGCTCAAAGA			TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chr11:128840378_128840379insAGCTCAAAGA	ENST00000310343.9	-	22	4686_4687	c.4687_4688insTCTTTGAGCT	c.(4687-4689)tccfs	p.S1563fs	ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Frame_Shift_Ins_p.S1214fs|ARHGAP32_ENST00000392657.3_Frame_Shift_Ins_p.S1214fs	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1563	Interaction with GAB2.				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						CCTGACAGAGGAGCTCAAAGAA	0.535																																																0																																										SO:0001589	frameshift_variant	9743			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.4678_4687dupTCTTTGAGCT	chr11.hg19:g.128840379_128840388dupAGCTCAAAGA	ENSP00000310561:p.Ser1563fs		I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Frame_Shift_Ins	INS	ENST00000310343.9	hg19	CCDS44769.1																																																																																				0.535	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		AGCTCAAAGA	128840379	-	AGCTCAAAGA	128840378	7	5	812	1	0	1	1	0	0	0	0	0	881	1174	41	0	1579	0	ARHGAP32	11	128840378	Frame_Shift_Ins	INS	-	TCGA-UZ-A9Q1-01A-11D-A42J-10	5909416	128840378	6166138	45	48665											
EPS8	2059	hgsc.bcm.edu	37	12	15776128	15776128	+	Silent	SNP	G	G	C			TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chr12:15776128G>C	ENST00000281172.5	-	20	2755	c.2319C>G	c.(2317-2319)gtC>gtG	p.V773V	EPS8_ENST00000542903.1_Silent_p.V513V|EPS8_ENST00000543612.1_Silent_p.V773V|EPS8_ENST00000540613.1_Silent_p.V513V|EPS8_ENST00000543523.1_Silent_p.V773V	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	773	Effector region. {ECO:0000250}.|Helix bundle 4. {ECO:0000250}.				actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|actin filament bundle assembly (GO:0051017)|actin polymerization-dependent cell motility (GO:0070358)|adult locomotory behavior (GO:0008344)|barbed-end actin filament capping (GO:0051016)|behavioral response to ethanol (GO:0048149)|cell proliferation (GO:0008283)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|exit from mitosis (GO:0010458)|positive regulation of signal transduction (GO:0009967)|Rac protein signal transduction (GO:0016601)|regulation of actin filament length (GO:0030832)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|ruffle membrane (GO:0032587)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actin binding (GO:0003779)|Rac GTPase binding (GO:0048365)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		TTTGGCTATAGACTCTCGCCC	0.403																																																0													130	133	132					12																	15776128		2203	4300	6503	SO:0001819	synonymous_variant	2059			U12535	CCDS31753.1	12p12.3	2008-05-02				ENSG00000151491			3420	protein-coding gene	gene with protein product		600206				8084614	Standard	NM_004447		Approved		uc001rdb.3	Q12929		ENST00000281172.5:c.2319C>G	chr12.hg19:g.15776128G>C			A6NMC3|A8K6W2|A8KA66|B4DX66|Q8N6J0	Silent	SNP	ENST00000281172.5	hg19	CCDS31753.1																																																																																				0.403	EPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401093.1			C	15776128	G	C	15776128	2	2	812	1	0	0	0	0	0	0	0	1	5196	929	33	4		4	EPS8	12	15776128	Silent	SNP	G	TCGA-UZ-A9Q1-01A-11D-A42J-10		15776128	118075767	46	48666											
PDZRN4	29951	hgsc.bcm.edu	37	12	41966314	41966314	+	Missense_Mutation	SNP	A	A	T	rs370916106		TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chr12:41966314A>T	ENST00000402685.2	+	10	1741	c.1733A>T	c.(1732-1734)aAt>aTt	p.N578I	PDZRN4_ENST00000539469.2_Missense_Mutation_p.N320I|PDZRN4_ENST00000298919.7_Missense_Mutation_p.N318I	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	578							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GAGGACCCCAATAGCACATCT	0.493																																																0													93	84	87					12																	41966314		2203	4300	6503	SO:0001583	missense	29951			AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"RING-type (C3HC4) zinc fingers"	30552	protein-coding gene	gene with protein product	"similar to semaF cytoplasmic domain associated protein 3"	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.1733A>T	chr12.hg19:g.41966314A>T	ENSP00000384197:p.Asn578Ile		Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	hg19	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	A	4.527	0.097859	0.08681	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.73363	-0.74;3.76;3.76	4.2	1.65	0.23941	.	2.717730	0.00792	N	0.001341	T	0.64811	0.2632	L	0.40543	1.245	0.25084	N	0.990904	P;B;B	0.34462	0.454;0.037;0.01	B;B;B	0.26202	0.067;0.062;0.038	T	0.52675	-0.8544	10	0.51188	T	0.08	-1.7376	5.993	0.19478	0.7343:0.1583:0.1074:0.0	.	578;318;320	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	I	578;320;318	ENSP00000384197:N578I;ENSP00000439990:N320I;ENSP00000298919:N318I	ENSP00000298919:N318I	N	+	2	0	PDZRN4	40252581	0.596000	0.26866	0.155000	0.22561	0.696000	0.40369	1.314000	0.33597	0.195000	0.20347	0.528000	0.53228	AAT		0.493	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		T	41966314	A	T	41966314	3	4	812	1	0	0	0	0	1	0	0	0	11712	101	4	5	1844	5	PDZRN4	12	41966314	Missense_Mutation	SNP	A	TCGA-UZ-A9Q1-01A-11D-A42J-10	26190186	41966314	91885581	47	48667											
TARBP2	8620	hgsc.bcm.edu	37	12	53899550	53899550	+	IGR	SNP	C	C	T			TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chr12:53899550C>T	ENST00000267017.3	-	0	592				TARBP2_ENST00000266987.2_Silent_p.L287L|TARBP2_ENST00000456234.2_Silent_p.L266L|TARBP2_ENST00000552857.1_Missense_Mutation_p.P153L|TARBP2_ENST00000394357.2_Silent_p.L266L	NM_003717.2	NP_003708.1	O15130	NPFF_HUMAN	neuropeptide FF-amide peptide precursor						acute inflammatory response to antigenic stimulus (GO:0002438)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of appetite (GO:0032099)|negative regulation of heart rate (GO:0010459)|negative regulation of insulin secretion (GO:0046676)|neuropeptide signaling pathway (GO:0007218)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane depolarization (GO:0003254)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|response to morphine (GO:0043278)|somatostatin secretion (GO:0070253)|spinal cord development (GO:0021510)|synaptic transmission (GO:0007268)|vasopressin secretion (GO:0030103)	axon terminus (GO:0043679)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|perikaryon (GO:0043204)|vesicle (GO:0031982)	receptor binding (GO:0005102)			haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3						CCTGGGCTCCCTGGGTGCCCT	0.602																																																0													77	79	78					12																	53899550		2203	4300	6503	SO:0001628	intergenic_variant	6895			AF005271	CCDS8862.1	12q13.13	2013-02-26			ENSG00000139574	ENSG00000139574		"Endogenous ligands"	7901	protein-coding gene	gene with protein product		604643				9224703	Standard	NM_003717		Approved	FMRFAL	uc001sdw.1	O15130	OTTHUMG00000169856		chr12.hg19:g.53899550C>T			Q3SXL4	Silent	SNP	ENST00000267017.3	hg19	CCDS8862.1	.	.	.	.	.	.	.	.	.	.	C	9.318	1.057290	0.19907	.	.	ENSG00000139546	ENST00000552857;ENST00000550407	.	.	.	4.45	-0.875	0.10628	.	.	.	.	.	T	0.34279	0.0892	.	.	.	0.23533	N	0.997471	.	.	.	.	.	.	T	0.34030	-0.9845	4	.	.	.	-15.6952	9.7019	0.40192	0.0:0.6534:0.0:0.3466	.	.	.	.	L	153;145	.	.	P	+	2	0	TARBP2	52185817	0.000000	0.05858	0.105000	0.21289	0.991000	0.79684	0.070000	0.14573	-0.157000	0.11059	0.561000	0.74099	CCT		0.602	NPFF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406301.1	NM_003717		T	53899550	C	T	53899550	1	4	812	0	1	0	0	0	0	0	0	0	15561	680	24	2		2	TARBP2	12	53899550	IGR	SNP	C	TCGA-UZ-A9Q1-01A-11D-A42J-10	11933236	53899550	79952345	48	48668											
NAV3	89795	hgsc.bcm.edu	37	12	78516178	78516178	+	Missense_Mutation	SNP	C	C	T			TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chr12:78516178C>T	ENST00000397909.2	+	16	4381	c.4208C>T	c.(4207-4209)aCg>aTg	p.T1403M	NAV3_ENST00000536525.2_Missense_Mutation_p.T1403M|NAV3_ENST00000228327.6_Missense_Mutation_p.T1403M|NAV3_ENST00000266692.7_Intron			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1403	Ser-rich.					membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.T1403M(1)		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						CTCATGAGAACGGGTAGTGTG	0.552										HNSCC(70;0.22)																																						1	Substitution - Missense(1)	large_intestine(1)											104	96	99					12																	78516178		2021	4186	6207	SO:0001583	missense	89795			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.4208C>T	chr12.hg19:g.78516178C>T	ENSP00000381007:p.Thr1403Met		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	hg19		.	.	.	.	.	.	.	.	.	.	C	22.2	4.260794	0.80246	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000378640;ENST00000550788	T;T;T;T	0.30981	1.53;1.54;1.51;2.25	5.97	5.97	0.96955	.	0.000000	0.41294	U	0.000916	T	0.57961	0.2089	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.99;0.998;0.999	T	0.56860	-0.7909	10	0.87932	D	0	-13.975	20.4239	0.99064	0.0:1.0:0.0:0.0	.	1403;1403;1403	E7EUC6;Q8IVL0;Q8IVL0-2	.;NAV3_HUMAN;.	M	1403;1403;1403;38;46	ENSP00000446132:T1403M;ENSP00000381007:T1403M;ENSP00000228327:T1403M;ENSP00000448303:T46M	ENSP00000228327:T1403M	T	+	2	0	NAV3	77040309	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.594000	0.82698	2.828000	0.97474	0.655000	0.94253	ACG		0.552	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		T	78516178	C	T	78516178	3	4	812	1	0	0	0	0	1	0	0	0	10187	536	19	1	4270	1	NAV3	12	78516178	Missense_Mutation	SNP	C	TCGA-UZ-A9Q1-01A-11D-A42J-10	24616628	78516178	55335717	49	48669											
NUPL1	9818	hgsc.bcm.edu	37	13	25895072	25895072	+	Missense_Mutation	SNP	G	G	C			TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chr13:25895072G>C	ENST00000381736.3	+	9	1042	c.792G>C	c.(790-792)gaG>gaC	p.E264D	NUPL1_ENST00000381718.3_Missense_Mutation_p.E252D|NUPL1_ENST00000466694.1_3'UTR|NUPL1_ENST00000463407.1_Missense_Mutation_p.E264D	NM_001008564.1|NM_014089.3	NP_001008564.1|NP_054808.1	Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	264	14 X 2 AA repeats of F-G.				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)	nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	nucleocytoplasmic transporter activity (GO:0005487)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		TTGTGAAGGAGCAGAAACAAG	0.308																																					Pancreas(166;1040 2004 4560 4728 37041)|GBM(109;1045 1520 7614 9308 19618)											0													35	39	37					13																	25895072		2197	4296	6493	SO:0001583	missense	9818			AB007870	CCDS9314.1, CCDS31949.1	13q12.12	2011-04-12			ENSG00000139496	ENSG00000139496			20261	protein-coding gene	gene with protein product		607615				9455477	Standard	NM_014089		Approved	KIAA0410	uc001uqi.3	Q9BVL2	OTTHUMG00000016608	ENST00000381736.3:c.792G>C	chr13.hg19:g.25895072G>C	ENSP00000371155:p.Glu264Asp		A6NI12|B4DZJ1|O43160|Q5JRG2|Q5JRG5	Missense_Mutation	SNP	ENST00000381736.3	hg19	CCDS9314.1	.	.	.	.	.	.	.	.	.	.	G	11.68	1.710839	0.30322	.	.	ENSG00000139496	ENST00000381736;ENST00000381745;ENST00000313619;ENST00000463407;ENST00000381718;ENST00000381747;ENST00000394327	T;T;T;T;T	0.49720	1.38;1.35;1.37;1.32;0.77	6.14	0.847	0.18961	.	0.180956	0.64402	D	0.000016	T	0.33000	0.0848	N	0.21448	0.665	0.44432	D	0.997351	B;B;P	0.46859	0.236;0.41;0.885	B;B;P	0.44946	0.07;0.07;0.465	T	0.03043	-1.1079	10	0.28530	T	0.3	-14.1628	9.5224	0.39143	0.6241:0.0:0.3759:0.0	.	252;264;264	A6NI12;Q9BVL2;Q9BVL2-2	.;NUPL1_HUMAN;.	D	264;252;241;264;252;264;211	ENSP00000371155:E264D;ENSP00000418555:E264D;ENSP00000371137:E252D;ENSP00000371166:E264D;ENSP00000408147:E211D	ENSP00000318459:E241D	E	+	3	2	NUPL1	24793072	0.990000	0.36364	0.997000	0.53966	0.927000	0.56198	0.394000	0.20834	-0.057000	0.13199	-0.355000	0.07637	GAG		0.308	NUPL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044228.2			C	25895072	G	C	25895072	3	2	812	1	0	0	0	0	1	0	0	0	10776	962	34	4	826	4	NUPL1	13	25895072	Missense_Mutation	SNP	G	TCGA-UZ-A9Q1-01A-11D-A42J-10		25895072	89274806	50	48670											
MYO16	23026	hgsc.bcm.edu	37	13	109379841	109379841	+	Silent	SNP	C	C	T			TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chr13:109379841C>T	ENST00000357550.2	+	3	392	c.351C>T	c.(349-351)gtC>gtT	p.V117V	MYO16_ENST00000251041.5_Silent_p.V117V|MYO16_ENST00000356711.2_Silent_p.V117V	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			ACAGAGGAGTCAACGTCAACC	0.403																																																0													206	184	191					13																	109379841		2203	4300	6503	SO:0001819	synonymous_variant	23026				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"Myosins / Myosin superfamily : Class XVI", "Ankyrin repeat domain containing"	29822	protein-coding gene	gene with protein product	"neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3", "protein phosphatase 1, regulatory subunit 107"	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.351C>T	chr13.hg19:g.109379841C>T				Silent	SNP	ENST00000357550.2	hg19	CCDS32008.1																																																																																				0.403	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		T	109379841	C	T	109379841	2	4	812	1	0	0	0	0	0	0	0	1	10066	813	29	2		2	MYO16	13	109379841	Silent	SNP	C	TCGA-UZ-A9Q1-01A-11D-A42J-10	83484769	109379841	5790037	51	48671											
SLC7A7	9056	hgsc.bcm.edu	37	14	23242825	23242825	+	Silent	SNP	A	A	T			TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chr14:23242825A>T	ENST00000397532.3	-	10	2055	c.1530T>A	c.(1528-1530)tcT>tcA	p.S510S	SLC7A7_ENST00000554061.1_5'UTR|SLC7A7_ENST00000397529.2_Silent_p.S510S|SLC7A7_ENST00000397528.4_Silent_p.S510S|SLC7A7_ENST00000555702.1_Silent_p.S510S|SLC7A7_ENST00000285850.7_Silent_p.S510S|SLC7A7_ENST00000554517.1_Silent_p.S244S			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	510					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)		GTGTTTAGTTAGATTTGGGAT	0.488																																																0													141	117	125					14																	23242825		2203	4300	6503	SO:0001819	synonymous_variant	9056			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.1530T>A	chr14.hg19:g.23242825A>T			B2RAU0|D3DS26|O95984|Q53XC1|Q86U07|Q9P2V5	Silent	SNP	ENST00000397532.3	hg19	CCDS9574.1																																																																																				0.488	SLC7A7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071636.3			T	23242825	A	T	23242825	2	4	812	1	0	0	0	0	0	0	0	1	14709	407	15	5		5	SLC7A7	14	23242825	Silent	SNP	A	TCGA-UZ-A9Q1-01A-11D-A42J-10		23242825	84106715	52	48672											
HECTD1	25831	hgsc.bcm.edu	37	14	31604218	31604218	+	Missense_Mutation	SNP	T	T	C			TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chr14:31604218T>C	ENST00000399332.1	-	22	3926	c.3438A>G	c.(3436-3438)atA>atG	p.I1146M	HECTD1_ENST00000553700.1_Missense_Mutation_p.I1146M	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1146					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)		ATGCTGATGGTATCACCCAGA	0.418																																																0													189	167	174					14																	31604218		1952	4139	6091	SO:0001583	missense	25831			AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"Ankyrin repeat domain containing"	20157	protein-coding gene	gene with protein product			"HECT domain containing 1"			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.3438A>G	chr14.hg19:g.31604218T>C	ENSP00000382269:p.Ile1146Met		D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	hg19	CCDS41939.1	.	.	.	.	.	.	.	.	.	.	T	16.23	3.064792	0.55432	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000553957	T;T;T	0.29917	1.55;1.55;1.55	5.91	3.45	0.39498	Galactose-binding domain-like (1);Sad1/UNC-like, C-terminal (1);	0.151756	0.43260	U	0.000599	T	0.20577	0.0495	L	0.43923	1.385	0.48571	D	0.999676	P;B	0.39022	0.655;0.225	B;B	0.34536	0.185;0.121	T	0.06075	-1.0847	10	0.87932	D	0	-6.2714	4.6526	0.12603	0.1194:0.0674:0.1242:0.689	.	1146;1146	D3DS86;Q9ULT8	.;HECD1_HUMAN	M	1146;1148;1146;620	ENSP00000450697:I1146M;ENSP00000382269:I1146M;ENSP00000451860:I620M	ENSP00000261312:I1148M	I	-	3	3	HECTD1	30673969	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.886000	0.28241	2.261000	0.74972	0.533000	0.62120	ATA		0.418	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			C	31604218	T	C	31604218	3	2	812	1	0	0	0	0	1	0	0	0	7041	1628	57	3	4482	3	HECTD1	14	31604218	Missense_Mutation	SNP	T	TCGA-UZ-A9Q1-01A-11D-A42J-10	8361393	31604218	75745322	53	48673											
DMXL2	23312	hgsc.bcm.edu	37	15	51783940	51783940	+	Silent	SNP	G	G	A			TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chr15:51783940G>A	ENST00000251076.5	-	20	5075	c.4788C>T	c.(4786-4788)gtC>gtT	p.V1596V	DMXL2_ENST00000449909.3_Silent_p.V960V|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Silent_p.V1596V	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1596						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)		GGCATGTAGAGACACCTAAAT	0.368																																																0													68	74	72					15																	51783940		2195	4293	6488	SO:0001819	synonymous_variant	23312			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"WD repeat domain containing"	2938	protein-coding gene	gene with protein product	"rabconnectin 3"	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.4788C>T	chr15.hg19:g.51783940G>A			B2RTR3|B7ZMH3|F5GWF1|O94938	Silent	SNP	ENST00000251076.5	hg19	CCDS10141.1																																																																																				0.368	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		A	51783940	G	A	51783940	2	1	812	1	0	0	0	0	0	0	0	1	4597	929	33	2		2	DMXL2	15	51783940	Silent	SNP	G	TCGA-UZ-A9Q1-01A-11D-A42J-10		51783940	50747452	54	48674											
ADAMTS7	11173	hgsc.bcm.edu	37	15	79088990	79088991	+	Frame_Shift_Ins	INS	-	-	T			TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chr15:79088990_79088991insT	ENST00000388820.4	-	4	970_971	c.760_761insA	c.(760-762)atgfs	p.M254fs	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	254	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				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						GTACTCCACCATTTTGGCATCA	0.614																																																0																																										SO:0001589	frameshift_variant	11173			AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"ADAM metallopeptidases with thrombospondin type 1 motif"	223	protein-coding gene	gene with protein product	"COMPase", "a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"	605009	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.761dupA	chr15.hg19:g.79088994_79088994dupT	ENSP00000373472:p.Met254fs		Q14F51|Q6P7J9	Frame_Shift_Ins	INS	ENST00000388820.4	hg19	CCDS32303.1																																																																																				0.614	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		T	79088991	-	T	79088990	7	5	812	1	0	1	1	0	0	0	0	0	271	217	8	0	4383	0	ADAMTS7	15	79088990	Frame_Shift_Ins	INS	-	TCGA-UZ-A9Q1-01A-11D-A42J-10	27305050	79088990	23442402	55	48675											
ALPK3	57538	hgsc.bcm.edu	37	15	85360356	85360356	+	Silent	SNP	C	C	T			TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chr15:85360356C>T	ENST00000258888.5	+	1	446	c.279C>T	c.(277-279)tgC>tgT	p.C93C		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	93					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)			ACACCCGCTGCGCCTTCCTCC	0.731																																																0													5	6	5					15																	85360356		2058	4100	6158	SO:0001819	synonymous_variant	57538			AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17574	protein-coding gene	gene with protein product	"myocyte induction differentiation originator", "muscle alpha-kinase"					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.279C>T	chr15.hg19:g.85360356C>T			Q9P2L6	Silent	SNP	ENST00000258888.5	hg19	CCDS10333.1																																																																																				0.731	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		T	85360356	C	T	85360356	2	4	812	1	0	0	0	0	0	0	0	1	546	776	27	1		1	ALPK3	15	85360356	Silent	SNP	C	TCGA-UZ-A9Q1-01A-11D-A42J-10	6271366	85360356	17171036	56	48676											
ANPEP	290	hgsc.bcm.edu	37	15	90340878	90340878	+	Missense_Mutation	SNP	C	C	A			TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chr15:90340878C>A	ENST00000300060.6	-	15	2398	c.2085G>T	c.(2083-2085)tgG>tgT	p.W695C	ANPEP_ENST00000558177.1_5'UTR	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	695	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)	GGGCGGCCTCCCAGGGCATGT	0.562																																					NSCLC(30;827 977 2459 19669 26125)											0													135	127	130					15																	90340878		2200	4299	6499	SO:0001583	missense	290			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.2085G>T	chr15.hg19:g.90340878C>A	ENSP00000300060:p.Trp695Cys		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Missense_Mutation	SNP	ENST00000300060.6	hg19	CCDS10356.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.725444	0.89298	.	.	ENSG00000166825	ENST00000300060	T	0.07908	3.15	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.47525	0.1450	H	0.97806	4.08	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.67341	-0.5695	10	0.87932	D	0	.	18.2369	0.89952	0.0:1.0:0.0:0.0	.	695	P15144	AMPN_HUMAN	C	695	ENSP00000300060:W695C	ENSP00000300060:W695C	W	-	3	0	ANPEP	88141882	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.659000	0.83766	2.728000	0.93425	0.655000	0.94253	TGG		0.562	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1			A	90340878	C	A	90340878	3	1	812	1	0	0	0	0	1	0	0	0	710	624	22	4	846	4	ANPEP	15	90340878	Missense_Mutation	SNP	C	TCGA-UZ-A9Q1-01A-11D-A42J-10	4980522	90340878	12190514	57	48677											
ANPEP	290	hgsc.bcm.edu	37	15	90349261	90349261	+	Missense_Mutation	SNP	T	T	C			TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chr15:90349261T>C	ENST00000300060.6	-	2	867	c.554A>G	c.(553-555)gAg>gGg	p.E185G		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	185	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)	ATCTGCCAACTCCCCCTCGAA	0.617																																					NSCLC(30;827 977 2459 19669 26125)											0													91	85	87					15																	90349261		2200	4299	6499	SO:0001583	missense	290			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.554A>G	chr15.hg19:g.90349261T>C	ENSP00000300060:p.Glu185Gly		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Missense_Mutation	SNP	ENST00000300060.6	hg19	CCDS10356.1	.	.	.	.	.	.	.	.	.	.	T	17.47	3.397231	0.62177	.	.	ENSG00000166825	ENST00000300060	T	0.02974	4.09	4.8	4.8	0.61643	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.19446	0.0467	M	0.93854	3.465	0.52099	D	0.999947	D	0.89917	1.0	D	0.91635	0.999	T	0.08806	-1.0704	10	0.29301	T	0.29	.	12.3003	0.54870	0.0:0.0:0.0:1.0	.	185	P15144	AMPN_HUMAN	G	185	ENSP00000300060:E185G	ENSP00000300060:E185G	E	-	2	0	ANPEP	88150265	1.000000	0.71417	1.000000	0.80357	0.161000	0.22273	6.099000	0.71466	1.794000	0.52575	0.460000	0.39030	GAG		0.617	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1			C	90349261	T	C	90349261	3	2	812	1	0	0	0	0	1	0	0	0	710	1551	54	3	2429	3	ANPEP	15	90349261	Missense_Mutation	SNP	T	TCGA-UZ-A9Q1-01A-11D-A42J-10	8383	90349261	12182131	58	48678											
ST8SIA2	8128	hgsc.bcm.edu	37	15	92981704	92981704	+	Frame_Shift_Del	DEL	A	A	-			TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chr15:92981704delA	ENST00000268164.3	+	4	649	c.412delA	c.(412-414)aacfs	p.N138fs	ST8SIA2_ENST00000539113.1_Frame_Shift_Del_p.N117fs	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	138					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|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)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	early endosome (GO:0005769)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|recycling endosome (GO:0055037)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			TGTGTCCCAGAACCTCTACGA	0.512																																																0													143	144	144					15																	92981704		2198	4298	6496	SO:0001589	frameshift_variant	8128			U33551	CCDS10372.1	15q26	2013-03-01	2003-01-14	2005-02-07	ENSG00000140557	ENSG00000140557		"Sialyltransferases"	10870	protein-coding gene	gene with protein product		602546	"sialyltransferase 8 (alpha-2, 8-sialytransferase) B"	SIAT8B		7559389	Standard	NM_006011		Approved	STX, ST8SIA-II, HsT19690	uc002bra.3	Q92186	OTTHUMG00000149843	ENST00000268164.3:c.412delA	chr15.hg19:g.92981704delA	ENSP00000268164:p.Asn138fs		Q4VAZ0|Q92470|Q92746	Frame_Shift_Del	DEL	ENST00000268164.3	hg19	CCDS10372.1																																																																																				0.512	ST8SIA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313526.1	NM_006011		-	92981704	A	-	92981704	7	5	812	1	0	1	0	1	0	0	0	0	15237	246	9	0	426	0	ST8SIA2	15	92981704	Frame_Shift_Del	DEL	A	TCGA-UZ-A9Q1-01A-11D-A42J-10	2632443	92981704	9549688	59	48679											
ZNF597	146434	hgsc.bcm.edu	37	16	3487452	3487453	+	Frame_Shift_Ins	INS	-	-	A			TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chr16:3487452_3487453insA	ENST00000301744.4	-	4	481_482	c.246_247insT	c.(244-249)attgctfs	p.A83fs		NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN	zinc finger protein 597	83	KRAB.				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						AGGGGTGCAGCAATGGGGTACT	0.45																																																0																																										SO:0001589	frameshift_variant	146434			AK057633	CCDS10505.1	16p13.3	2013-01-08			ENSG00000167981	ENSG00000167981		"Zinc fingers, C2H2-type", "-"	26573	protein-coding gene	gene with protein product		614685				12477932	Standard	NM_152457		Approved	FLJ33071	uc002cvd.3	Q96LX8	OTTHUMG00000129359	ENST00000301744.4:c.247dupT	chr16.hg19:g.3487454_3487454dupA	ENSP00000301744:p.Ala83fs			Frame_Shift_Ins	INS	ENST00000301744.4	hg19	CCDS10505.1																																																																																				0.45	ZNF597-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251511.2	NM_152457		A	3487453	-	A	3487452	7	5	812	1	0	1	1	0	0	0	0	0	18032	710	25	0	1031	0	ZNF597	16	3487452	Frame_Shift_Ins	INS	-	TCGA-UZ-A9Q1-01A-11D-A42J-10		3487452	86867301	60	48680											
NUDT16L1	84309	hgsc.bcm.edu	37	16	4745104	4745104	+	Missense_Mutation	SNP	A	A	G			TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chr16:4745104A>G	ENST00000304301.6	+	3	593	c.560A>G	c.(559-561)aAg>aGg	p.K187R	NUDT16L1_ENST00000405142.1_3'UTR|NUDT16L1_ENST00000586252.1_Missense_Mutation_p.K147R|NUDT16L1_ENST00000586536.1_3'UTR	NM_032349.3	NP_115725.1	Q9BRJ7	SDOS_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 16-like 1	187	Interaction with PXN. {ECO:0000250}.					cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4						CCCGAGGAGAAGCTGGTTGAG	0.622																																																0													82	78	80					16																	4745104		2197	4300	6497	SO:0001583	missense	84309			BC006223	CCDS10519.1, CCDS59257.1	16p13.3	2008-02-05			ENSG00000168101	ENSG00000168101		"Nudix motif containing"	28154	protein-coding gene	gene with protein product						11805099	Standard	NM_032349		Approved	SDOS	uc002cxe.3	Q9BRJ7	OTTHUMG00000129471	ENST00000304301.6:c.560A>G	chr16.hg19:g.4745104A>G	ENSP00000306670:p.Lys187Arg		Q8NAI2	Missense_Mutation	SNP	ENST00000304301.6	hg19	CCDS10519.1	.	.	.	.	.	.	.	.	.	.	A	15.37	2.813806	0.50527	.	.	ENSG00000168101	ENST00000304301	T	0.50001	0.76	4.38	4.38	0.52667	NUDIX hydrolase domain-like (1);	4.226410	0.00639	N	0.000518	T	0.40979	0.1139	N	0.22421	0.69	0.80722	D	1	P	0.47484	0.896	B	0.41466	0.358	T	0.28964	-1.0027	10	0.23891	T	0.37	.	12.4484	0.55664	1.0:0.0:0.0:0.0	.	187	Q9BRJ7	SDOS_HUMAN	R	187	ENSP00000306670:K187R	ENSP00000306670:K187R	K	+	2	0	NUDT16L1	4685105	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.660000	0.61511	1.605000	0.50152	0.533000	0.62120	AAG		0.622	NUDT16L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251634.1	NM_032349		G	4745104	A	G	4745104	3	3	812	1	0	0	0	0	1	0	0	0	10735	72	3	3	570	3	NUDT16L1	16	4745104	Missense_Mutation	SNP	A	TCGA-UZ-A9Q1-01A-11D-A42J-10	1257652	4745104	85609649	61	48681											
GFOD2	81577	hgsc.bcm.edu	37	16	67719468	67719468	+	Missense_Mutation	SNP	C	C	T	rs145155253		TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chr16:67719468C>T	ENST00000268797.7	-	2	496	c.151G>A	c.(151-153)Gcc>Acc	p.A51T	GFOD2_ENST00000602377.1_5'UTR	NM_030819.3	NP_110446.3	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain containing 2	51					extracellular matrix organization (GO:0030198)	proteinaceous extracellular matrix (GO:0005578)	oxidoreductase activity (GO:0016491)			breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		GTGTAGAAGGCGATGTTCATC	0.567																																																0								C	THR/ALA	0,4396		0,0,2198	102	78	86		151	0.6	1	16	dbSNP_134	86	2,8598	2.2+/-6.3	0,2,4298	no	missense	GFOD2	NM_030819.3	58	0,2,6496	TT,TC,CC		0.0233,0.0,0.0154	benign	51/386	67719468	2,12994	2198	4300	6498	SO:0001583	missense	81577			AK074382	CCDS10845.1, CCDS59268.1	16q22.1	2008-02-05			ENSG00000141098	ENSG00000141098			28159	protein-coding gene	gene with protein product						12975309	Standard	NM_030819		Approved	FLJ23802, MGC11335	uc002eub.3	Q3B7J2	OTTHUMG00000137537	ENST00000268797.7:c.151G>A	chr16.hg19:g.67719468C>T	ENSP00000268797:p.Ala51Thr		Q69YL9|Q6UXX6|Q7L648|Q8TE86|Q9BQ07|R4GNG5	Missense_Mutation	SNP	ENST00000268797.7	hg19	CCDS10845.1	.	.	.	.	.	.	.	.	.	.	C	14.36	2.513067	0.44660	0.0	2.33E-4	ENSG00000141098	ENST00000268797	T	0.22743	1.94	5.58	0.555	0.17247	Oxidoreductase, N-terminal (1);NAD(P)-binding domain (1);	0.438834	0.26349	N	0.024890	T	0.13628	0.0330	L	0.48642	1.525	0.23293	N	0.997962	B	0.21452	0.056	B	0.17098	0.017	T	0.16928	-1.0386	10	0.41790	T	0.15	-9.6132	1.6318	0.02734	0.2087:0.3687:0.1169:0.3057	.	51	Q3B7J2	GFOD2_HUMAN	T	51	ENSP00000268797:A51T	ENSP00000268797:A51T	A	-	1	0	GFOD2	66276969	0.995000	0.38212	0.997000	0.53966	0.894000	0.52154	0.540000	0.23191	0.101000	0.17610	-0.367000	0.07326	GCC		0.567	GFOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268868.2	NM_030819		T	67719468	C	T	67719468	3	4	812	1	0	0	0	0	1	0	0	0	6346	768	27	1	1014	1	GFOD2	16	67719468	Missense_Mutation	SNP	C	TCGA-UZ-A9Q1-01A-11D-A42J-10	62974364	67719468	22635285	62	48682											
SMG6	23293	hgsc.bcm.edu	37	17	1989066	1989066	+	Missense_Mutation	SNP	T	T	C	rs369806279		TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chr17:1989066T>C	ENST00000263073.6	-	14	3537	c.3487A>G	c.(3487-3489)Atg>Gtg	p.M1163V	SMG6_ENST00000354901.4_Missense_Mutation_p.M255V|SMG6_ENST00000573166.1_5'UTR|SMG6_ENST00000536871.2_Missense_Mutation_p.M255V|SMG6_ENST00000544865.1_Missense_Mutation_p.M1132V	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	1163					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						TCCTTTCCCATGGTGTCTGGG	0.547																																					Melanoma(59;28 1088 11621 25887 46638 50814)											0								T	VAL/MET,VAL/MET	0,4406		0,0,2203	278	263	268		3394,3487	5.9	1	17		268	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SMG6	NM_001170957.1,NM_017575.4	21,21	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign,benign	1132/1389,1163/1420	1989066	1,13005	2203	4300	6503	SO:0001583	missense	23293			AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"EST1 telomerase component homolog A (S. cerevisiae)"	610963	"chromosome 17 open reading frame 31", "smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.3487A>G	chr17.hg19:g.1989066T>C	ENSP00000263073:p.Met1163Val		B7Z874|O94837|Q86VH6|Q9UF60	Missense_Mutation	SNP	ENST00000263073.6	hg19	CCDS11016.1	.	.	.	.	.	.	.	.	.	.	T	10.57	1.388136	0.25118	0.0	1.16E-4	ENSG00000070366	ENST00000263073;ENST00000544865;ENST00000354901;ENST00000536871	T;T;T	0.16324	3.17;3.17;2.35	5.93	5.93	0.95920	.	0.243961	0.43260	D	0.000590	T	0.09905	0.0243	N	0.12182	0.205	0.44816	D	0.997822	B	0.27351	0.176	B	0.14023	0.01	T	0.24297	-1.0164	10	0.12430	T	0.62	-8.9459	16.3798	0.83452	0.0:0.0:0.0:1.0	.	1163	Q86US8	EST1A_HUMAN	V	1163;1132;74;255	ENSP00000263073:M1163V;ENSP00000443920:M1132V;ENSP00000440283:M255V	ENSP00000263073:M1163V	M	-	1	0	SMG6	1935816	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.867000	0.63013	2.271000	0.75665	0.533000	0.62120	ATG		0.547	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3			C	1989066	T	C	1989066	3	2	812	1	0	0	0	0	1	0	0	0	14803	1464	51	3	796	3	SMG6	17	1989066	Missense_Mutation	SNP	T	TCGA-UZ-A9Q1-01A-11D-A42J-10		1989066	79206144	63	48683											
RAI1	10743	hgsc.bcm.edu	37	17	17699195	17699195	+	Missense_Mutation	SNP	A	A	T			TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chr17:17699195A>T	ENST00000353383.1	+	3	3402	c.2933A>T	c.(2932-2934)aAg>aTg	p.K978M	RAI1_ENST00000261641.6_Missense_Mutation_p.K978M	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	978					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)		AAGCCCAACAAGCCTGCTGTG	0.657																																																0													29	30	30					17																	17699195		2203	4299	6502	SO:0001583	missense	10743			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.2933A>T	chr17.hg19:g.17699195A>T	ENSP00000323074:p.Lys978Met		Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	ENST00000353383.1	hg19	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	A	14.60	2.582930	0.46006	.	.	ENSG00000108557	ENST00000353383;ENST00000395776;ENST00000261641;ENST00000315321	T;T	0.72282	-0.64;-0.04	4.59	3.49	0.39957	.	0.277855	0.30519	N	0.009444	T	0.70937	0.3281	L	0.57536	1.79	0.35405	D	0.791949	P	0.46395	0.877	P	0.47470	0.548	T	0.77789	-0.2456	10	0.62326	D	0.03	.	11.3935	0.49827	0.8486:0.1514:0.0:0.0	.	978	Q7Z5J4	RAI1_HUMAN	M	978;978;978;930	ENSP00000323074:K978M;ENSP00000261641:K978M	ENSP00000261641:K978M	K	+	2	0	RAI1	17639920	1.000000	0.71417	0.975000	0.42487	0.557000	0.35523	2.673000	0.46858	0.593000	0.29745	0.402000	0.26972	AAG		0.657	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		T	17699195	A	T	17699195	3	4	812	1	0	0	0	0	1	0	0	0	13013	72	3	5	2935	5	RAI1	17	17699195	Missense_Mutation	SNP	A	TCGA-UZ-A9Q1-01A-11D-A42J-10	15710129	17699195	63496015	64	48684											
FAM83G	644815	hgsc.bcm.edu	37	17	18882130	18882130	+	Silent	SNP	A	A	G			TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chr17:18882130A>G	ENST00000388995.6	-	5	1072	c.849T>C	c.(847-849)aaT>aaC	p.N283N	SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395643.2_Intron|FAM83G_ENST00000345041.4_Silent_p.N283N|FAM83G_ENST00000585154.2_Silent_p.N283N|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395645.3_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	283					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						CAGAGATCACATTCCGGTCCG	0.632																																																0													52	58	56					17																	18882130		2168	4253	6421	SO:0001819	synonymous_variant	644815			AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"protein associated with SMAD1"	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.849T>C	chr17.hg19:g.18882130A>G			Q3KQZ4|Q6ZW60	Silent	SNP	ENST00000388995.6	hg19	CCDS42276.1																																																																																				0.632	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4			G	18882130	A	G	18882130	2	3	812	1	0	0	0	0	0	0	0	1	5641	214	8	3		3	FAM83G	17	18882130	Silent	SNP	A	TCGA-UZ-A9Q1-01A-11D-A42J-10	1182935	18882130	62313080	65	48685											
KIAA0100	9703	hgsc.bcm.edu	37	17	26961608	26961608	+	Silent	SNP	A	A	G			TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chr17:26961608A>G	ENST00000528896.2	-	16	3071	c.2997T>C	c.(2995-2997)ccT>ccC	p.P999P	KIAA0100_ENST00000544884.1_Silent_p.P856P|RP11-192H23.7_ENST00000583787.1_RNA|KIAA0100_ENST00000389003.3_Silent_p.P856P|RP11-192H23.7_ENST00000577814.1_RNA	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	999						extracellular region (GO:0005576)		p.P999P(1)		breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CAGGGGGAAAAGGGCTGCCTG	0.493																																																1	Substitution - coding silent(1)	prostate(1)											110	106	107					17																	26961608		2203	4300	6503	SO:0001819	synonymous_variant	9703			D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"cancer/testis antigen 101", "breast cancer overexpressed gene 1"	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.2997T>C	chr17.hg19:g.26961608A>G			A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Silent	SNP	ENST00000528896.2	hg19	CCDS32595.1																																																																																				0.493	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		G	26961608	A	G	26961608	2	3	812	1	0	0	0	0	0	0	0	1	8156	59	3	3		3	KIAA0100	17	26961608	Silent	SNP	A	TCGA-UZ-A9Q1-01A-11D-A42J-10	8079478	26961608	54233602	66	48686											
KRTAP4-7	100132476	hgsc.bcm.edu	37	17	39240791	39240791	+	Silent	SNP	C	C	G	rs553572799	byFrequency	TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chr17:39240791C>G	ENST00000391417.4	+	1	333	c.333C>G	c.(331-333)cgC>cgG	p.R111R		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	136	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].		Missing. {ECO:0000269|PubMed:15955084}.		aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.R111_C115delRPSCC(1)|p.?(1)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						cctgctgccgccccagctgct	0.662																																																2	Unknown(1)|Deletion - In frame(1)	NS(2)																																								SO:0001819	synonymous_variant	100132476			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.333C>G	chr17.hg19:g.39240791C>G			A0AVM6|A8MQ08|A8MTL4	Silent	SNP	ENST00000391417.4	hg19	CCDS45673.1																																																																																				0.662	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1			G	39240791	C	G	39240791	2	3	812	1	0	0	0	0	0	0	0	1	8557	726	26	4		4	KRTAP4-7	17	39240791	Silent	SNP	C	TCGA-UZ-A9Q1-01A-11D-A42J-10	12279183	39240791	41954419	67	48687											
KRT34	3885	hgsc.bcm.edu	37	17	39538610	39538610	+	Silent	SNP	C	C	T			TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chr17:39538610C>T	ENST00000394001.1	-	1	45	c.15G>A	c.(13-15)aaG>aaA	p.K5K		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	5	Head.				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)				TGGGTGGGGGCTTGGCATACA	0.443																																																0													70	70	70					17																	39538610		2203	4300	6503	SO:0001819	synonymous_variant	3885			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.15G>A	chr17.hg19:g.39538610C>T			Q8IUT8|Q8N4W2	Silent	SNP	ENST00000394001.1	hg19	CCDS11390.1																																																																																				0.443	KRT34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257304.3	NM_021013		T	39538610	C	T	39538610	2	4	812	1	0	0	0	0	0	0	0	1	8473	796	28	2		2	KRT34	17	39538610	Silent	SNP	C	TCGA-UZ-A9Q1-01A-11D-A42J-10	297819	39538610	41656600	68	48688											
ATCAY	85300	hgsc.bcm.edu	37	19	3907799	3907799	+	Silent	SNP	G	G	C	rs373080859	byFrequency	TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chr19:3907799G>C	ENST00000450849.2	+	5	893	c.426G>C	c.(424-426)acG>acC	p.T142T	ATCAY_ENST00000600960.1_Silent_p.T142T|ATCAY_ENST00000398448.3_Silent_p.T148T|ATCAY_ENST00000301260.6_Silent_p.T142T	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	142					apoptotic process (GO:0006915)|mitochondrion distribution (GO:0048311)|negative regulation of glutamate metabolic process (GO:2000212)|neuron projection development (GO:0031175)|regulation of protein localization (GO:0032880)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|synapse (GO:0045202)	kinesin binding (GO:0019894)			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		GGGACGGCACGACGGAGGACG	0.647																																																0													48	58	55					19																	3907799		2075	4210	6285	SO:0001819	synonymous_variant	85300				CCDS45923.1	19p13.3	2014-06-24	2008-07-18		ENSG00000167654	ENSG00000167654			779	protein-coding gene	gene with protein product	"Cayman ataxia", "caytaxin"	608179				8845847, 14556008	Standard	NM_033064		Approved		uc002lyy.4	Q86WG3	OTTHUMG00000181836	ENST00000450849.2:c.426G>C	chr19.hg19:g.3907799G>C			Q8NAQ2|Q8TAQ3|Q96HC6|Q96JF5	Silent	SNP	ENST00000450849.2	hg19	CCDS45923.1																																																																																				0.647	ATCAY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457872.2			C	3907799	G	C	3907799	2	2	812	1	0	0	0	0	0	0	0	1	1077	1045	37	4		4	ATCAY	19	3907799	Silent	SNP	G	TCGA-UZ-A9Q1-01A-11D-A42J-10		3907799	55221184	69	48689											
OR7A10	390892	hgsc.bcm.edu	37	19	14952156	14952157	+	Frame_Shift_Ins	INS	-	-	A			TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chr19:14952156_14952157insA	ENST00000248058.1	-	1	532_533	c.533_534insT	c.(532-534)ttcfs	p.F178fs		NM_001005190.1	NP_001005190.1	O76100	OR7AA_HUMAN	olfactory receptor, family 7, subfamily A, member 10	178						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)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					TAATTTCACAGAAAAAATGAGG	0.45																																																0																																										SO:0001589	frameshift_variant	390892				CCDS32936.1	19p13.1	2012-08-09						"GPCR / Class A : Olfactory receptors"	8356	protein-coding gene	gene with protein product							Standard	NM_001005190		Approved		uc002mzx.1	O76100		ENST00000248058.1:c.534dupT	chr19.hg19:g.14952162_14952162dupA	ENSP00000248058:p.Phe178fs		Q6IFP0|Q96R97	Frame_Shift_Ins	INS	ENST00000248058.1	hg19	CCDS32936.1																																																																																				0.45	OR7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466520.1	NM_001005190		A	14952157	-	A	14952156	7	5	812	1	0	1	1	0	0	0	0	0	11216	933	33	0	399	0	OR7A10	19	14952156	Frame_Shift_Ins	INS	-	TCGA-UZ-A9Q1-01A-11D-A42J-10	11044357	14952156	44176827	70	48690											
BRD4	23476	hgsc.bcm.edu	37	19	15354087	15354087	+	Silent	SNP	G	G	A			TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chr19:15354087G>A	ENST00000263377.2	-	14	3014	c.2793C>T	c.(2791-2793)taC>taT	p.Y931Y		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	931					cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GCTGCTGCAGGTACAGCTGCA	0.692			T	C15orf55	lethal midline carcinoma of young people																																		Dom	yes		19	19p13.1	23476	bromodomain containing 4		E	0													9	9	9					19																	15354087		2151	4234	6385	SO:0001819	synonymous_variant	23476			Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"chromosome-associated protein"	608749	"bromodomain-containing 4"			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.2793C>T	chr19.hg19:g.15354087G>A			O60433|Q4G0X8|Q86YS8|Q96PD3	Silent	SNP	ENST00000263377.2	hg19	CCDS12328.1																																																																																				0.692	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	NM_058243		A	15354087	G	A	15354087	2	1	812	1	0	0	0	0	0	0	0	1	1506	1256	44	2		2	BRD4	19	15354087	Silent	SNP	G	TCGA-UZ-A9Q1-01A-11D-A42J-10	401931	15354087	43774896	71	48691											
GYS1	2997	hgsc.bcm.edu	37	19	49489290	49489290	+	Silent	SNP	G	G	A			TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chr19:49489290G>A	ENST00000323798.3	-	4	691	c.495C>T	c.(493-495)ttC>ttT	p.F165F	GYS1_ENST00000540532.1_Silent_p.F85F|GYS1_ENST00000541188.1_Silent_p.F85F|GYS1_ENST00000263276.6_Silent_p.F101F|GYS1_ENST00000457974.1_5'Flank|GYS1_ENST00000544287.1_Intron	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	165					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|heart development (GO:0007507)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|inclusion body (GO:0016234)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		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;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		TCTGTGCCAGGAACTGTGGGC	0.582																																																0													52	43	46					19																	49489290		2203	4300	6503	SO:0001819	synonymous_variant	2997				CCDS12747.1, CCDS54292.1	19q13.3	2013-02-22			ENSG00000104812	ENSG00000104812	2.4.1.11	"Glycosyltransferase group 1 domain containing"	4706	protein-coding gene	gene with protein product		138570		GYS			Standard	NM_002103		Approved	GSY	uc002plp.3	P13807	OTTHUMG00000150723	ENST00000323798.3:c.495C>T	chr19.hg19:g.49489290G>A			Q9BTT9	Silent	SNP	ENST00000323798.3	hg19	CCDS12747.1																																																																																				0.582	GYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319791.1	NM_002103		A	49489290	G	A	49489290	2	1	812	1	0	0	0	0	0	0	0	1	6914	1165	41	2		2	GYS1	19	49489290	Silent	SNP	G	TCGA-UZ-A9Q1-01A-11D-A42J-10	34135203	49489290	9639693	72	48692											
PPFIA3	8541	hgsc.bcm.edu	37	19	49652538	49652538	+	Missense_Mutation	SNP	T	T	G			TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chr19:49652538T>G	ENST00000334186.4	+	27	3659	c.3310T>G	c.(3310-3312)Ttc>Gtc	p.F1104V	PPFIA3_ENST00000602351.1_Missense_Mutation_p.F1095V	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	1104	SAM 3. {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)		GGAGAAGGAATTCAGCAACCT	0.657																																																0													38	43	41					19																	49652538		2203	4300	6503	SO:0001583	missense	8541			AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"Sterile alpha motif (SAM) domain containing"	9247	protein-coding gene	gene with protein product	"protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3", "liprin-alpha 3", "liprin"	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.3310T>G	chr19.hg19:g.49652538T>G	ENSP00000335614:p.Phe1104Val		A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Missense_Mutation	SNP	ENST00000334186.4	hg19	CCDS12758.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.749161	0.89753	.	.	ENSG00000177380	ENST00000334186	D	0.83914	-1.78	4.29	4.29	0.51040	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (1);Sterile alpha motif, type 2 (1);	0.000000	0.50627	D	0.000111	D	0.88100	0.6346	M	0.78285	2.405	0.80722	D	1	P;D	0.53462	0.934;0.96	P;P	0.55615	0.78;0.699	D	0.89774	0.3956	10	0.87932	D	0	-18.5267	12.8314	0.57748	0.0:0.0:0.0:1.0	.	1095;1104	O75145-2;O75145	.;LIPA3_HUMAN	V	1104	ENSP00000335614:F1104V	ENSP00000335614:F1104V	F	+	1	0	PPFIA3	54344350	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.014000	0.70784	1.935000	0.56089	0.459000	0.35465	TTC		0.657	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465688.1	NM_003660		G	49652538	T	G	49652538	3	3	812	1	0	0	0	0	1	0	0	0	12313	1493	52	5	3412	5	PPFIA3	19	49652538	Missense_Mutation	SNP	T	TCGA-UZ-A9Q1-01A-11D-A42J-10	163248	49652538	9476445	73	48693											
TSHZ2	128553	hgsc.bcm.edu	37	20	51871547	51871547	+	Missense_Mutation	SNP	T	T	G			TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chr20:51871547T>G	ENST00000371497.5	+	2	2437	c.1550T>G	c.(1549-1551)tTg>tGg	p.L517W	TSHZ2_ENST00000329613.6_Missense_Mutation_p.L514W|TSHZ2_ENST00000603338.2_Missense_Mutation_p.L514W|RP4-678D15.1_ENST00000606932.1_RNA	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	517					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)			GGGGACATTTTGAAATCTTTG	0.483																																																0													56	60	59					20																	51871547		2203	4300	6503	SO:0001583	missense	128553			AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	13010	protein-coding gene	gene with protein product		614118	"chromosome 20 open reading frame 17", "zinc finger protein 218", "teashirt family zinc finger 2"	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.1550T>G	chr20.hg19:g.51871547T>G	ENSP00000360552:p.Leu517Trp		B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	hg19	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	T	19.69	3.874271	0.72180	.	.	ENSG00000182463	ENST00000371497;ENST00000329613;ENST00000450262	T;T	0.54866	0.55;0.55	5.95	5.95	0.96441	.	0.000000	0.64402	D	0.000001	T	0.74015	0.3661	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.77437	-0.2588	10	0.87932	D	0	-12.7719	16.3964	0.83607	0.0:0.0:0.0:1.0	.	517	Q9NRE2	TSH2_HUMAN	W	517;514;43	ENSP00000360552:L517W;ENSP00000333114:L514W	ENSP00000333114:L514W	L	+	2	0	TSHZ2	51304954	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	7.693000	0.84214	2.275000	0.75901	0.523000	0.50628	TTG		0.483	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		G	51871547	T	G	51871547	3	3	812	1	0	0	0	0	1	0	0	0	16629	1821	63	5	1556	5	TSHZ2	20	51871547	Missense_Mutation	SNP	T	TCGA-UZ-A9Q1-01A-11D-A42J-10		51871547	11153973	74	48694											
TH1L	51497	hgsc.bcm.edu	37	20	57568776	57568776	+	Missense_Mutation	SNP	A	A	T			TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chr20:57568776A>T	ENST00000344018.3	+	13	1592	c.1565A>T	c.(1564-1566)aAg>aTg	p.K522M	NELFCD_ENST00000479207.1_Intron|NELFCD_ENST00000602795.1_Missense_Mutation_p.K531M			Q8IXH7	NELFD_HUMAN	negative elongation factor complex member C/D	522					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)											TGTCTGGAGAAGCTGGACACT	0.453																																																0													198	176	183					20																	57568776		2203	4300	6503	SO:0001583	missense	51497			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.1565A>T	chr20.hg19:g.57568776A>T	ENSP00000342300:p.Lys522Met		B4DE06|Q9BYL2|Q9H405|Q9H888|Q9H8T3|Q9NVX5|Q9P029|Q9UGN1|Q9UGN2|Q9UGN3	Missense_Mutation	SNP	ENST00000344018.3	hg19		.	.	.	.	.	.	.	.	.	.	A	18.47	3.631340	0.67015	.	.	ENSG00000101158	ENST00000344018	.	.	.	4.35	4.35	0.52113	.	0.000000	0.85682	D	0.000000	T	0.65678	0.2714	L	0.47716	1.5	0.58432	D	0.999995	D	0.69078	0.997	P	0.60345	0.873	T	0.68519	-0.5387	9	0.56958	D	0.05	-49.9271	13.982	0.64310	1.0:0.0:0.0:0.0	.	522	Q8IXH7	NELFD_HUMAN	M	522	.	ENSP00000342300:K522M	K	+	2	0	TH1L	57002171	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.301000	0.78850	1.953000	0.56701	0.455000	0.32223	AAG		0.453	NELFCD-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_198976		T	57568776	A	T	57568776	3	4	812	1	0	0	0	0	1	0	0	0	15844	72	3	5	1615	5	TH1L	20	57568776	Missense_Mutation	SNP	A	TCGA-UZ-A9Q1-01A-11D-A42J-10	5697229	57568776	5456744	75	48695											
C20orf151	140893	hgsc.bcm.edu	37	20	60992327	60992327	+	Silent	SNP	C	C	A			TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chr20:60992327C>A	ENST00000252998.1	-	4	309	c.153G>T	c.(151-153)cgG>cgT	p.R51R		NM_080833.2	NP_543023.2	Q8NC74	RB8NL_HUMAN	RBBP8 N-terminal like	51						extracellular space (GO:0005615)											TCTGCTGTTCCCGGAGCTGGT	0.612																																																0													108	75	86					20																	60992327		2203	4296	6499	SO:0001819	synonymous_variant	140893			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.153G>T	chr20.hg19:g.60992327C>A			B2RP98|Q8N4Z9|Q9BR75|Q9H0Y9	Silent	SNP	ENST00000252998.1	hg19	CCDS13498.1																																																																																				0.612	RBBP8NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080029.1	NM_080833		A	60992327	C	A	60992327	2	1	812	1	0	0	0	0	0	0	0	1	2093	610	22	4		4	C20orf151	20	60992327	Silent	SNP	C	TCGA-UZ-A9Q1-01A-11D-A42J-10	3423551	60992327	2033193	76	48696											
PTK6	5753	hgsc.bcm.edu	37	20	62168575	62168575	+	Silent	SNP	C	C	T	rs370151198		TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chr20:62168575C>T	ENST00000217185.2	-	1	120	c.93G>A	c.(91-93)gcG>gcA	p.A31A	PTK6_ENST00000542869.1_5'UTR	NM_005975.3	NP_005966.1	Q13882	PTK6_HUMAN	protein tyrosine kinase 6	31	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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)	AGACGTCCCCCGCGCGGAAGC	0.701																																																0								A		1,4369	2.1+/-5.4	0,1,2184	33	28	30		93	-9	0	20		30	0,8580		0,0,4290	no	coding-synonymous	PTK6	NM_005975.2		0,1,6474	TT,TC,CC		0.0,0.0229,0.0077		31/452	62168575	1,12949	2185	4290	6475	SO:0001819	synonymous_variant	5753			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.93G>A	chr20.hg19:g.62168575C>T			B2RCR3|B4DW46|Q58F01	Silent	SNP	ENST00000217185.2	hg19	CCDS13524.1																																																																																				0.701	PTK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080313.1			T	62168575	C	T	62168575	2	4	812	1	0	0	0	0	0	0	0	1	12770	639	23	1		1	PTK6	20	62168575	Silent	SNP	C	TCGA-UZ-A9Q1-01A-11D-A42J-10	1176248	62168575	856945	77	48697											
ZNF295	49854	hgsc.bcm.edu	37	21	43411959	43411959	+	Missense_Mutation	SNP	A	A	G			TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chr21:43411959A>G	ENST00000310826.5	-	3	2429	c.2246T>C	c.(2245-2247)gTc>gCc	p.V749A	ZBTB21_ENST00000465968.1_5'UTR|ZBTB21_ENST00000398511.3_Missense_Mutation_p.V749A|ZBTB21_ENST00000398499.1_Missense_Mutation_p.V749A|ZBTB21_ENST00000398505.3_Missense_Mutation_p.V548A	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	749					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)										GTAAGGGCAGACGGCCGCGTT	0.557																																																0													141	162	155					21																	43411959		2203	4300	6503	SO:0001583	missense	49854			AB033053	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	13083	protein-coding gene	gene with protein product			"zinc finger protein 295"	ZNF295			Standard	NM_020727		Approved	KIAA1227	uc002yzy.4	Q9ULJ3	OTTHUMG00000086789	ENST00000310826.5:c.2246T>C	chr21.hg19:g.43411959A>G	ENSP00000308759:p.Val749Ala		Q5R2W1|Q5R2W2|Q6P4R0	Missense_Mutation	SNP	ENST00000310826.5	hg19	CCDS13678.1	.	.	.	.	.	.	.	.	.	.	A	19.02	3.745708	0.69418	.	.	ENSG00000173276	ENST00000398505;ENST00000310826;ENST00000398499;ENST00000398511	T;T;T;T	0.07567	3.24;3.18;3.18;3.18	5.62	4.47	0.54385	Zinc finger, C2H2-like (1);	0.000000	0.64402	D	0.000003	T	0.21307	0.0513	L	0.58101	1.795	0.42558	D	0.993131	D;D	0.76494	0.999;0.989	D;P	0.75484	0.986;0.81	T	0.02683	-1.1124	10	0.21540	T	0.41	-20.3315	11.354	0.49605	0.9292:0.0:0.0708:0.0	.	548;749	Q9ULJ3-2;Q9ULJ3	.;ZN295_HUMAN	A	548;749;749;749	ENSP00000381517:V548A;ENSP00000308759:V749A;ENSP00000381512:V749A;ENSP00000381523:V749A	ENSP00000308759:V749A	V	-	2	0	ZNF295	42285028	1.000000	0.71417	0.838000	0.33150	0.895000	0.52256	8.724000	0.91462	0.964000	0.38108	0.460000	0.39030	GTC		0.557	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195308.1	NM_020727		G	43411959	A	G	43411959	3	3	812	1	0	0	0	0	1	0	0	0	17832	275	10	3	958	3	ZNF295	21	43411959	Missense_Mutation	SNP	A	TCGA-UZ-A9Q1-01A-11D-A42J-10		43411959	4717936	78	48698											
PIM3	415116	hgsc.bcm.edu	37	22	50354605	50354605	+	Missense_Mutation	SNP	T	T	C			TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chr22:50354605T>C	ENST00000360612.4	+	1	445	c.10T>C	c.(10-12)Tcc>Ccc	p.S4P		NM_001001852.3	NP_001001852.2	Q86V86	PIM3_HUMAN	Pim-3 proto-oncogene, serine/threonine kinase	4					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|histone phosphorylation (GO:0016572)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)						all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.196)|LUAD - Lung adenocarcinoma(64;0.247)		GATGCTGCTCTCCAAGTTCGG	0.796																																																0													2	3	3					22																	50354605		1697	3572	5269	SO:0001583	missense	415116			BC052239	CCDS33678.1	22q13	2014-06-25	2014-06-25		ENSG00000198355	ENSG00000198355			19310	protein-coding gene	gene with protein product		610580	"pim-3 oncogene"			12477932	Standard	NM_001001852		Approved		uc003bjb.3	Q86V86	OTTHUMG00000150290	ENST00000360612.4:c.10T>C	chr22.hg19:g.50354605T>C	ENSP00000353824:p.Ser4Pro		A5D8X8|A8K7J0|B1B0P0|Q68BM2	Missense_Mutation	SNP	ENST00000360612.4	hg19	CCDS33678.1	.	.	.	.	.	.	.	.	.	.	t	14.84	2.655437	0.47467	.	.	ENSG00000198355	ENST00000360612	T	0.58060	0.36	2.45	2.45	0.29901	.	0.370508	0.18727	U	0.132860	T	0.63248	0.2495	L	0.59436	1.845	0.46376	D	0.999016	D	0.71674	0.998	D	0.64877	0.93	T	0.64504	-0.6392	10	0.72032	D	0.01	.	9.6248	0.39743	0.0:0.0:0.0:1.0	.	4	Q86V86	PIM3_HUMAN	P	4	ENSP00000353824:S4P	ENSP00000353824:S4P	S	+	1	0	PIM3	48740609	0.997000	0.39634	0.992000	0.48379	0.091000	0.18340	1.814000	0.38972	1.031000	0.39867	0.382000	0.24955	TCC		0.796	PIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317406.1	NM_001001852		C	50354605	T	C	50354605	3	2	812	1	0	0	0	0	1	0	0	0	11931	1551	54	3	12	3	PIM3	22	50354605	Missense_Mutation	SNP	T	TCGA-UZ-A9Q1-01A-11D-A42J-10		50354605	949961	79	48699											
MAGEB16	139604	hgsc.bcm.edu	37	X	35821036	35821036	+	Silent	SNP	C	C	T			TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chrX:35821036C>T	ENST00000399989.1	+	2	1002	c.723C>T	c.(721-723)ttC>ttT	p.F241F	MAGEB16_ENST00000399988.1_Silent_p.F241F|MAGEB16_ENST00000399985.1_Silent_p.F241F|MAGEB16_ENST00000399987.1_Silent_p.F241F|MAGEB16_ENST00000399992.1_Silent_p.F273F	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	241	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						AGAAGCACTTCATCTTTGGAG	0.483																																																0													51	50	50					X																	35821036		2161	4280	6441	SO:0001819	synonymous_variant	139604				CCDS43927.1	Xp21.1	2010-05-26	2005-11-07		ENSG00000189023	ENSG00000189023			21188	protein-coding gene	gene with protein product		300762	"melanoma antigen family B, 16 (pseudogene)"			11454705	Standard	NM_001099921		Approved		uc010ngt.1	A2A368	OTTHUMG00000021348	ENST00000399989.1:c.723C>T	chrX.hg19:g.35821036C>T			A8MU30	Silent	SNP	ENST00000399989.1	hg19	CCDS43927.1																																																																																				0.483	MAGEB16-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251034.1			T	35821036	C	T	35821036	2	4	812	1	0	0	0	0	0	0	0	1	9176	825	29	2		2	MAGEB16	23	35821036	Silent	SNP	C	TCGA-UZ-A9Q1-01A-11D-A42J-10		35821036	119449524	80	48700											
AR	367	hgsc.bcm.edu	37	X	66765152	66765152	+	Missense_Mutation	SNP	T	T	A			TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chrX:66765152T>A	ENST00000374690.3	+	1	688	c.164T>A	c.(163-165)cTg>cAg	p.L55Q	AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Missense_Mutation_p.L55Q|AR_ENST00000504326.1_Missense_Mutation_p.L55Q	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	55	Modulating.|Poly-Leu.				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)	GCCAGTTTGCTGCTGCTgcag	0.662									Androgen Insensitivity Syndrome																																							0													11	14	13					X																	66765152		2169	4252	6421	SO:0001583	missense	367	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"Nuclear hormone receptors"	644	protein-coding gene	gene with protein product	"testicular feminization", "Kennedy disease"	313700	"dihydrotestosterone receptor", "spinal and bulbar muscular atrophy"	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.164T>A	chrX.hg19:g.66765152T>A	ENSP00000363822:p.Leu55Gln		A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	ENST00000374690.3	hg19	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	N	7.392	0.630975	0.14322	.	.	ENSG00000169083	ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	T;T;T	0.58797	0.31;0.31;0.31	.	.	.	.	0.268702	0.26919	N	0.021823	T	0.26666	0.0652	N	0.08118	0	0.09310	N	0.999996	B;B	0.17852	0.006;0.024	B;B	0.04013	0.0;0.001	T	0.17107	-1.0380	8	0.10111	T	0.7	.	.	.	.	.	55;55	E7EVX6;D3YPQ2	.;.	Q	55	ENSP00000363822:L55Q;ENSP00000421155:L55Q;ENSP00000379359:L55Q	ENSP00000363822:L55Q	L	+	2	0	AR	66681877	0.998000	0.40836	0.922000	0.36590	0.480000	0.33159	0.009000	0.13219	0.000000	0.14550	0.000000	0.15137	CTG		0.662	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		A	66765152	T	A	66765152	3	1	812	1	0	0	0	0	1	0	0	0	836	1580	55	5	166	5	AR	23	66765152	Missense_Mutation	SNP	T	TCGA-UZ-A9Q1-01A-11D-A42J-10	30944116	66765152	88505408	81	48701											
ATP7A	538	hgsc.bcm.edu	37	X	77254011	77254011	+	Missense_Mutation	SNP	C	C	T			TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chrX:77254011C>T	ENST00000341514.6	+	5	1528	c.1373C>T	c.(1372-1374)tCa>tTa	p.S458L	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Missense_Mutation_p.S458L	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	458					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)	GCTCAGCCTTCATCGGAAATG	0.393																																																0													166	155	158					X																	77254011		2203	4296	6499	SO:0001583	missense	538			L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"ATPases / P-type"	869	protein-coding gene	gene with protein product	"copper pump 1", "copper-transporting ATPase 1"	300011	"Menkes syndrome"	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.1373C>T	chrX.hg19:g.77254011C>T	ENSP00000345728:p.Ser458Leu		B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	ENST00000341514.6	hg19	CCDS35339.1	.	.	.	.	.	.	.	.	.	.	C	9.335	1.061539	0.19987	.	.	ENSG00000165240	ENST00000343533;ENST00000341514;ENST00000355691	D;D	0.96300	-3.97;-3.97	5.23	4.34	0.51931	.	0.427019	0.23409	N	0.048483	D	0.91061	0.7187	N	0.19112	0.55	0.39495	D	0.968115	B;B	0.17667	0.001;0.023	B;B	0.17098	0.002;0.017	D	0.87643	0.2523	10	0.29301	T	0.29	-6.2236	11.0442	0.47849	0.0:0.7938:0.1285:0.0777	.	458;468	Q04656;Q59HD1	ATP7A_HUMAN;.	L	458;458;468	ENSP00000343026:S458L;ENSP00000345728:S458L	ENSP00000345728:S458L	S	+	2	0	ATP7A	77140667	0.774000	0.28592	0.851000	0.33527	0.190000	0.23558	1.694000	0.37752	2.315000	0.78130	0.600000	0.82982	TCA		0.393	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052		T	77254011	C	T	77254011	3	4	812	1	0	0	0	0	1	0	0	0	1190	838	29	2	1387	2	ATP7A	23	77254011	Missense_Mutation	SNP	C	TCGA-UZ-A9Q1-01A-11D-A42J-10	10488859	77254011	78016549	82	48702											
MORF4L2	9643	hgsc.bcm.edu	37	X	102931211	102931211	+	Frame_Shift_Del	DEL	G	G	-			TCGA-UZ-A9Q1-01A-11D-A42J-10	TCGA-UZ-A9Q1-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69f0f324-fc06-44ab-b056-8fb3fb4706ae	1a85c2bb-8b95-429a-b782-c05a44345d4c	g.chrX:102931211delG	ENST00000441076.2	-	4	1049	c.745delC	c.(745-747)cttfs	p.L249fs	MORF4L2_ENST00000360458.1_Frame_Shift_Del_p.L249fs|MORF4L2_ENST00000433176.2_Frame_Shift_Del_p.L249fs|MORF4L2_ENST00000492116.1_5'Flank|MORF4L2_ENST00000451301.1_Frame_Shift_Del_p.L249fs|MORF4L2_ENST00000423833.2_Frame_Shift_Del_p.L249fs|MORF4L2_ENST00000422154.2_Frame_Shift_Del_p.L249fs	NM_001142419.1|NM_012286.2	NP_001135891.1|NP_036418.1	Q15014	MO4L2_HUMAN	mortality factor 4 like 2	249	MRG. {ECO:0000255|PROSITE- ProRule:PRU00972}.				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						AATAATGCAAGGCTTTTCTCA	0.418																																																0													94	82	86					X																	102931211		2203	4300	6503	SO:0001589	frameshift_variant	9643			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.745delC	chrX.hg19:g.102931211delG	ENSP00000391969:p.Leu249fs		B3KP92|D3DXA5|Q567V0|Q8J026	Frame_Shift_Del	DEL	ENST00000441076.2	hg19	CCDS14512.1																																																																																				0.418	MORF4L2-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057732.1	NM_012286		-	102931211	G	-	102931211	7	5	812	1	0	1	0	1	0	0	0	0	9709	1000	35	0	125	0	MORF4L2	23	102931211	Frame_Shift_Del	DEL	G	TCGA-UZ-A9Q1-01A-11D-A42J-10	25677200	102931211	52339349	83	48703											
LRP8	7804	hgsc.bcm.edu	37	1	53712713	53712713	+	Missense_Mutation	SNP	G	G	A			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr1:53712713G>A	ENST00000306052.6	-	19	2970	c.2869C>T	c.(2869-2871)Ctt>Ttt	p.L957F	LRP8_ENST00000354412.3_Missense_Mutation_p.L694F|LRP8_ENST00000465675.1_Missense_Mutation_p.L451F|LRP8_ENST00000371454.2_Missense_Mutation_p.L898F|LRP8_ENST00000347547.2_Missense_Mutation_p.L787F|RP5-1024G6.8_ENST00000602943.1_lincRNA	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	957					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						TCATCTTCAAGGCTTAATGCC	0.433																																																0													122	106	111					1																	53712713		2203	4300	6503	SO:0001583	missense	7804			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.2869C>T	chr1.hg19:g.53712713G>A	ENSP00000303634:p.Leu957Phe		B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78	Missense_Mutation	SNP	ENST00000306052.6	hg19	CCDS578.1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.771798	0.69992	.	.	ENSG00000157193	ENST00000306052;ENST00000371454;ENST00000465675;ENST00000354412;ENST00000347547	D;D;D;D;D	0.94092	-3.0;-2.84;-3.35;-2.86;-2.95	5.47	3.42	0.39159	.	.	.	.	.	D	0.92140	0.7508	N	0.19112	0.55	0.41755	D	0.989687	P;D;P;P;D	0.67145	0.928;0.992;0.928;0.954;0.996	P;P;P;B;D	0.70487	0.541;0.747;0.541;0.356;0.969	D	0.90630	0.4566	9	0.72032	D	0.01	.	7.9953	0.30265	0.0796:0.0:0.5688:0.3516	.	694;787;898;957;451	Q14114-2;Q14114-4;Q14114-3;Q14114;E9PP15	.;.;.;LRP8_HUMAN;.	F	957;898;451;694;787	ENSP00000303634:L957F;ENSP00000360509:L898F;ENSP00000437009:L451F;ENSP00000346391:L694F;ENSP00000334522:L787F	ENSP00000303634:L957F	L	-	1	0	LRP8	53485301	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.688000	0.46984	0.479000	0.27511	0.655000	0.94253	CTT		0.433	LRP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024699.1	NM_004631		A	53712713	G	A	53712713	3	1	813	1	0	0	0	0	1	0	0	0	8965	1000	35	2	26	2	LRP8	1	53712713	Missense_Mutation	SNP	G	TCGA-V9-A7HT-01A-11D-A33Q-10		53712713	195537908	1	48704											
ZNHIT6	54680	hgsc.bcm.edu	37	1	86167916	86167916	+	Missense_Mutation	SNP	T	T	A			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr1:86167916T>A	ENST00000370574.3	-	5	1076	c.943A>T	c.(943-945)Agg>Tgg	p.R315W	ZNHIT6_ENST00000431532.2_Missense_Mutation_p.R276W			Q9NWK9	BCD1_HUMAN	zinc finger, HIT-type containing 6	315					box C/D snoRNP assembly (GO:0000492)|ribosome biogenesis (GO:0042254)	extracellular vesicular exosome (GO:0070062)|pre-snoRNP complex (GO:0070761)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						ATACCTTGCCTCCGGGCACGA	0.294																																																0													67	67	67					1																	86167916		2202	4299	6501	SO:0001583	missense	54680			AL442074	CCDS707.1, CCDS53338.1	1p22.3	2013-01-17	2010-09-15	2008-06-23	ENSG00000117174	ENSG00000117174		"Zinc fingers, HIT-type"	26089	protein-coding gene	gene with protein product	"box C/D snoRNA essential 1 homolog (S. cerevisiae)"		"chromosome 1 open reading frame 181", "zinc finger, HIT type 6"	C1orf181		12747765	Standard	NM_017953		Approved	FLJ20729, NY-BR-75, BCD1	uc001dlh.3	Q9NWK9	OTTHUMG00000010576	ENST00000370574.3:c.943A>T	chr1.hg19:g.86167916T>A	ENSP00000359606:p.Arg315Trp		B2RBA1|B4DP13|D3DT20|Q9H278|Q9H3X3|Q9NWN0	Missense_Mutation	SNP	ENST00000370574.3	hg19	CCDS707.1	.	.	.	.	.	.	.	.	.	.	T	19.77	3.889819	0.72524	.	.	ENSG00000117174	ENST00000431532;ENST00000370574	T;T	0.54279	0.62;0.58	5.37	4.21	0.49690	.	0.240905	0.40302	N	0.001123	T	0.45518	0.1346	L	0.46157	1.445	0.34792	D	0.735819	D;D	0.61697	0.99;0.985	P;P	0.55667	0.781;0.715	T	0.53222	-0.8469	10	0.62326	D	0.03	-10.471	11.2031	0.48754	0.0:0.0:0.2929:0.7071	.	276;315	B4DP13;Q9NWK9	.;BCD1_HUMAN	W	276;315	ENSP00000414344:R276W;ENSP00000359606:R315W	ENSP00000359606:R315W	R	-	1	2	ZNHIT6	85940504	0.995000	0.38212	0.919000	0.36401	0.900000	0.52787	2.999000	0.49473	0.929000	0.37192	0.454000	0.30748	AGG		0.294	ZNHIT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029186.1	NM_017953		A	86167916	T	A	86167916	3	1	813	1	0	0	0	0	1	0	0	0	18214	1550	54	5	493	5	ZNHIT6	1	86167916	Missense_Mutation	SNP	T	TCGA-V9-A7HT-01A-11D-A33Q-10	32455203	86167916	163082705	2	48705											
FCRL6	343413	hgsc.bcm.edu	37	1	159778131	159778131	+	Silent	SNP	A	A	T			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr1:159778131A>T	ENST00000368106.3	+	3	217	c.216A>T	c.(214-216)gcA>gcT	p.A72A	FCRL6_ENST00000392235.3_Silent_p.A72A|FCRL6_ENST00000339348.5_Silent_p.A72A|FCRL6_ENST00000321935.6_Silent_p.A79A	NM_001004310.2	NP_001004310.2	Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	72	Ig-like C2-type 1.					external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					CCATGGGAGCAGCAACAGTGC	0.483																																																0													55	48	51					1																	159778131		2203	4300	6503	SO:0001819	synonymous_variant	343413			AK131201	CCDS30912.1, CCDS60312.1	1q23.2	2013-01-11			ENSG00000181036	ENSG00000181036		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	31910	protein-coding gene	gene with protein product		613562					Standard	NM_001004310		Approved	IFGP6, FLJ16056, FcRH6	uc001fud.4	Q6DN72	OTTHUMG00000035351	ENST00000368106.3:c.216A>T	chr1.hg19:g.159778131A>T			A1KXW6|A2A4D6|Q6DN73|Q6XRC3|Q6ZNI1	Silent	SNP	ENST00000368106.3	hg19	CCDS30912.1																																																																																				0.483	FCRL6-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276853.1	NM_001004310		T	159778131	A	T	159778131	2	4	813	1	0	0	0	0	0	0	0	1	5801	175	7	5		5	FCRL6	1	159778131	Silent	SNP	A	TCGA-V9-A7HT-01A-11D-A33Q-10	73610215	159778131	89472490	3	48706											
ARHGAP30	257106	hgsc.bcm.edu	37	1	161018636	161018638	+	In_Frame_Del	DEL	CTT	CTT	-	rs552705270|rs530896501		TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	CTT	CTT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr1:161018636_161018638delCTT	ENST00000368013.3	-	12	2493_2495	c.2173_2175delAAG	c.(2173-2175)aagdel	p.K725del	USF1_ENST00000368021.3_5'Flank|ARHGAP30_ENST00000368015.1_In_Frame_Del_p.K548del|ARHGAP30_ENST00000368016.3_Intron|USF1_ENST00000435396.1_5'Flank	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	725	Glu-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			TACTGTCAGCCTTCTTCTGACCT	0.478																																																0									,	2,4264		1,0,2132					,	2.5	0		dbSNP_126	261	4,8248		0,4,4122	no	intron,coding	ARHGAP30	NM_181720.2,NM_001025598.1	,	1,4,6254	A1A1,A1R,RR		0.0485,0.0469,0.0479	,	,		6,12512				SO:0001651	inframe_deletion	257106			AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"Rho GTPase activating proteins"	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.2173_2175delAAG	chr1.hg19:g.161018639_161018641delCTT	ENSP00000356992:p.Lys725del		Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	In_Frame_Del	DEL	ENST00000368013.3	hg19	CCDS30918.1																																																																																				0.478	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077090.2	NM_181720		-	161018638	CTT	-	161018636	7	5	813	1	0	1	0	1	0	0	0	0	879	680	24	0	1134	0	ARHGAP30	1	161018636	In_Frame_Del	DEL	CTT	TCGA-V9-A7HT-01A-11D-A33Q-10	1240505	161018636	88231985	4	48707											
DNM3	26052	hgsc.bcm.edu	37	1	171956839	171956839	+	Frame_Shift_Del	DEL	T	T	-			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr1:171956839delT	ENST00000355305.5	+	3	436	c.279delT	c.(277-279)gatfs	p.D93fs	DNM3_ENST00000358155.4_Frame_Shift_Del_p.D93fs|DNM3_ENST00000520906.1_Frame_Shift_Del_p.D93fs|DNM3_ENST00000367731.1_Frame_Shift_Del_p.D93fs|DNM3_ENST00000367733.2_Frame_Shift_Del_p.D93fs			Q9UQ16	DYN3_HUMAN	dynamin 3	93	Dynamin-type G.				endocytosis (GO:0006897)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|synapse assembly (GO:0007416)	dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						AATTTACAGATTTTGATGAAG	0.343																																																0													134	149	145					1																	171956839		1824	4086	5910	SO:0001589	frameshift_variant	26052			AL136712	CCDS44276.1, CCDS60356.1	1q24.1	2013-01-10			ENSG00000197959	ENSG00000197959		"Pleckstrin homology (PH) domain containing"	29125	protein-coding gene	gene with protein product	"Dyna III"	611445				10048485	Standard	NM_015569		Approved	KIAA0820	uc001gie.4	Q9UQ16	OTTHUMG00000034913	ENST00000355305.5:c.279delT	chr1.hg19:g.171956839delT	ENSP00000347457:p.Asp93fs		A9Z1Y1|O14982|O95555|Q1MTM8|Q5W129|Q6P2G1|Q9H0P3|Q9H548|Q9NQ68|Q9NQN6	Frame_Shift_Del	DEL	ENST00000355305.5	hg19																																																																																					0.343	DNM3-003	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000084531.1	NM_015569		-	171956839	T	-	171956839	7	5	813	1	0	1	0	1	0	0	0	0	4675	1490	52	0	289	0	DNM3	1	171956839	Frame_Shift_Del	DEL	T	TCGA-V9-A7HT-01A-11D-A33Q-10	10938203	171956839	77293782	5	48708											
CNTNAP5	129684	hgsc.bcm.edu	37	2	125547712	125547712	+	Frame_Shift_Del	DEL	A	A	-			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr2:125547712delA	ENST00000431078.1	+	18	3347	c.2983delA	c.(2983-2985)aaafs	p.K996fs		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	996					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)		GCCCTTTTGCAAAAAAGGTAC	0.507																																																0													46	51	49					2																	125547712		2015	4193	6208	SO:0001589	frameshift_variant	129684			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.2983delA	chr2.hg19:g.125547712delA	ENSP00000399013:p.Lys996fs		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Frame_Shift_Del	DEL	ENST00000431078.1	hg19	CCDS46401.1																																																																																				0.507	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			-	125547712	A	-	125547712	7	5	813	1	0	1	0	1	0	0	0	0	3652	131	5	0	3053	0	CNTNAP5	2	125547712	Frame_Shift_Del	DEL	A	TCGA-V9-A7HT-01A-11D-A33Q-10		125547712	117651661	6	48709											
LRP2	4036	hgsc.bcm.edu	37	2	170058231	170058232	+	Frame_Shift_Ins	INS	-	-	A			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr2:170058231_170058232insA	ENST00000263816.3	-	44	8643_8644	c.8358_8359insT	c.(8356-8361)tttatgfs	p.M2787fs		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2787	LDL-receptor class A 18. {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)"	TTATTGCACATAAACTCCGTGG	0.45																																																0																																										SO:0001589	frameshift_variant	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.8359dupT	chr2.hg19:g.170058234_170058234dupA	ENSP00000263816:p.Met2787fs		O00711|Q16215	Frame_Shift_Ins	INS	ENST00000263816.3	hg19	CCDS2232.1																																																																																				0.45	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		A	170058232	-	A	170058231	7	5	813	1	0	1	1	0	0	0	0	0	8958	1406	49	0	5752	0	LRP2	2	170058231	Frame_Shift_Ins	INS	-	TCGA-V9-A7HT-01A-11D-A33Q-10	44510519	170058231	73141142	7	48710											
TTN	7273	hgsc.bcm.edu	37	2	179397361	179397362	+	Frame_Shift_Ins	INS	-	-	A			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr2:179397361_179397362insA	ENST00000591111.1	-	308	99281_99282	c.99057_99058insT	c.(99055-99060)gatgaafs	p.E33020fs	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000589042.1_Frame_Shift_Ins_p.E34661fs|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Ins_p.E32093fs|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Ins_p.E25788fs|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Ins_p.E25596fs|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Ins_p.E25721fs			Q8WZ42	TITIN_HUMAN	titin	33020					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)			AGTAATTCTTCATCAGAGATGT	0.455																																																0																																										SO:0001589	frameshift_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.99058dupT	chr2.hg19:g.179397362_179397362dupA	ENSP00000465570:p.Glu33020fs		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_Ins	INS	ENST00000591111.1	hg19																																																																																					0.455	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179397362	-	A	179397361	7	5	813	1	0	1	1	0	0	0	0	0	16740	835	29	0	4018	0	TTN	2	179397361	Frame_Shift_Ins	INS	-	TCGA-V9-A7HT-01A-11D-A33Q-10	9339130	179397361	63802012	8	48711											
TTN	7273	hgsc.bcm.edu	37	2	179456111	179456111	+	Missense_Mutation	SNP	G	G	T			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr2:179456111G>T	ENST00000591111.1	-	254	55642	c.55418C>A	c.(55417-55419)aCc>aAc	p.T18473N	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T20114N|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T17546N|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T11241N|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T11049N|TTN_ENST00000359218.5_Missense_Mutation_p.T11174N			Q8WZ42	TITIN_HUMAN	titin	18473	Ig-like 106.				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)			ACTCCCATCGGTTGTCCACTT	0.433																																																0													300	297	298					2																	179456111		1929	4129	6058	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.55418C>A	chr2.hg19:g.179456111G>T	ENSP00000465570:p.Thr18473Asn		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	hg19		.	.	.	.	.	.	.	.	.	.	G	13.04	2.118519	0.37436	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	6.1	3.21	0.36854	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	0.41949	0.1181	L	0.49126	1.545	0.39154	D	0.962285	B;B;B;B	0.32653	0.379;0.379;0.379;0.379	B;B;B;B	0.33890	0.172;0.172;0.172;0.172	T	0.46569	-0.9182	9	0.87932	D	0	.	17.2594	0.87065	0.0:0.3531:0.6469:0.0	.	11049;11174;11241;18473	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	17546;11049;11241;11174;11047	ENSP00000343764:T17546N;ENSP00000434586:T11049N;ENSP00000340554:T11241N;ENSP00000352154:T11174N	ENSP00000340554:T11241N	T	-	2	0	TTN	179164357	0.992000	0.36948	0.447000	0.26932	0.882000	0.50991	2.447000	0.44917	0.396000	0.25283	0.650000	0.86243	ACC		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179456111	G	T	179456111	3	4	813	1	0	0	0	0	1	0	0	0	16740	1261	44	4	47874	4	TTN	2	179456111	Missense_Mutation	SNP	G	TCGA-V9-A7HT-01A-11D-A33Q-10	58750	179456111	63743262	9	48712											
GTF3C3	9330	hgsc.bcm.edu	37	2	197649653	197649653	+	Splice_Site	DEL	T	T	-			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr2:197649653delT	ENST00000263956.3	-	8	1131	c.1042delA	c.(1042-1044)ata>ta	p.I349fs	GTF3C3_ENST00000409364.3_Splice_Site_p.I349fs|GTF3C3_ENST00000470386.1_5'Flank	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	349					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TCTGTAATTATCTAAAAGAAT	0.303																																																0													48	49	49					2																	197649653		2202	4295	6497	SO:0001630	splice_region_variant	9330			AF133123	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041		"General transcription factors", "Tetratricopeptide (TTC) repeat domain containing"	4666	protein-coding gene	gene with protein product		604888	"general transcription factor IIIC, polypeptide 3 (102kD)"			10373544	Standard	NM_001206774		Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	Q9Y5Q9	OTTHUMG00000154633	ENST00000263956.3:c.1042-1A>-	chr2.hg19:g.197649653delT			Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Frame_Shift_Del	DEL	ENST00000263956.3	hg19	CCDS2316.1																																																																																				0.303	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256104.1		Frame_Shift_Del	-	197649653	T	-	197649653	8	5	813	1	0	1	0	1	0	0	1	0	6876	1449	50	0	1662	0	GTF3C3	2	197649653	Splice_Site	DEL	T	TCGA-V9-A7HT-01A-11D-A33Q-10	18193542	197649653	45549720	10	48713											
UGT1A3	54659	hgsc.bcm.edu	37	2	234638590	234638590	+	Missense_Mutation	SNP	T	T	C			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr2:234638590T>C	ENST00000482026.1	+	1	837	c.818T>C	c.(817-819)aTg>aCg	p.M273T	UGT1A5_ENST00000373414.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000609767.1_Missense_Mutation_p.M273T|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A1_ENST00000373450.4_Intron			P35503	UD13_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A3	273					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)	ATGCCCAACATGGTCTTCATT	0.493																																																0													125	127	126					2																	234638590		2203	4300	6503	SO:0001583	missense	54659			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.818T>C	chr2.hg19:g.234638590T>C	ENSP00000418532:p.Met273Thr		B8K287	Missense_Mutation	SNP	ENST00000482026.1	hg19	CCDS2509.1	.	.	.	.	.	.	.	.	.	.	t	15.28	2.787614	0.49997	.	.	ENSG00000243135	ENST00000482026	T	0.61392	0.11	4.0	4.0	0.46444	.	.	.	.	.	T	0.64605	0.2613	M	0.74258	2.255	0.39951	D	0.974548	B;B	0.30686	0.29;0.29	B;B	0.41299	0.353;0.353	T	0.69146	-0.5222	9	0.54805	T	0.06	.	12.938	0.58327	0.0:0.0:0.0:1.0	.	273;273	Q5DT01;P35503	.;UD13_HUMAN	T	273	ENSP00000418532:M273T	ENSP00000418532:M273T	M	+	2	0	UGT1A3	234303329	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.500000	0.53318	1.457000	0.47850	0.373000	0.22412	ATG		0.493	UGT1A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130983.1	NM_019093		C	234638590	T	C	234638590	3	2	813	1	0	0	0	0	1	0	0	0	16951	1464	51	3	820	3	UGT1A3	2	234638590	Missense_Mutation	SNP	T	TCGA-V9-A7HT-01A-11D-A33Q-10	36988937	234638590	8560783	11	48714											
ESPNL	339768	hgsc.bcm.edu	37	2	239040220	239040220	+	Silent	SNP	C	C	T	rs190347409	byFrequency	TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr2:239040220C>T	ENST00000343063.3	+	9	3128	c.2865C>T	c.(2863-2865)gcC>gcT	p.A955A	ESPNL_ENST00000409506.1_Silent_p.A587A|ESPNL_ENST00000409169.1_Silent_p.A911A|ESPNL_ENST00000477241.1_3'UTR	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	955				A -> T (in Ref. 1; BAC85884). {ECO:0000305}.						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)		CTCACGCCGCCGTCCCCTGCA	0.687													C|||	9	0.00179712	0.0	0.0	5008	,	,		14478	0.0		0.001	False		,,,				2504	0.0082															0													17	18	18					2																	239040220		2196	4298	6494	SO:0001819	synonymous_variant	339768			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.2865C>T	chr2.hg19:g.239040220C>T			Q66K27|Q6ZVG1|Q8IVU2	Silent	SNP	ENST00000343063.3	hg19	CCDS2525.1																																																																																				0.687	ESPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257164.2	NM_194312		T	239040220	C	T	239040220	2	4	813	1	0	0	0	0	0	0	0	1	5257	639	23	1		1	ESPNL	2	239040220	Silent	SNP	C	TCGA-V9-A7HT-01A-11D-A33Q-10	4401630	239040220	4159153	12	48715											
BRPF1	7862	hgsc.bcm.edu	37	3	9788110	9788110	+	Missense_Mutation	SNP	G	G	C			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr3:9788110G>C	ENST00000457855.1	+	12	3444	c.3433G>C	c.(3433-3435)Gtc>Ctc	p.V1145L	BRPF1_ENST00000383829.2_Missense_Mutation_p.V1151L|BRPF1_ENST00000424362.1_Missense_Mutation_p.V1144L|BRPF1_ENST00000302054.3_Missense_Mutation_p.V1145L|BRPF1_ENST00000433861.2_Missense_Mutation_p.V1050L			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	1145	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					TCTCTACCTCGTCCTCTTCTT	0.567																																																0													80	75	77					3																	9788110		2203	4300	6503	SO:0001583	missense	7862			M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"peregrin", "bromodomain-containing protein, 140kD"	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.3433G>C	chr3.hg19:g.9788110G>C	ENSP00000410210:p.Val1145Leu		B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Missense_Mutation	SNP	ENST00000457855.1	hg19	CCDS2575.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.237373	0.79800	.	.	ENSG00000156983	ENST00000433861;ENST00000424362;ENST00000383829;ENST00000302054;ENST00000457855	D;D;D;D;D	0.85702	-2.02;-2.02;-2.02;-2.02;-2.02	6.06	6.06	0.98353	PWWP (3);	0.000000	0.85682	D	0.000000	D	0.89694	0.6789	M	0.85197	2.74	0.80722	D	1	P;P;P;P	0.42735	0.676;0.788;0.788;0.723	B;B;B;B	0.43783	0.225;0.396;0.396;0.431	D	0.90510	0.4480	10	0.87932	D	0	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	1050;1144;1151;1145	P55201-4;P55201-3;P55201-2;P55201	.;.;.;BRPF1_HUMAN	L	1050;1144;1151;1145;1145	ENSP00000402485:V1050L;ENSP00000398863:V1144L;ENSP00000373340:V1151L;ENSP00000306297:V1145L;ENSP00000410210:V1145L	ENSP00000306297:V1145L	V	+	1	0	BRPF1	9763110	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.813000	0.99286	2.882000	0.98803	0.655000	0.94253	GTC		0.567	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338485.1	NM_001003694		C	9788110	G	C	9788110	3	2	813	1	0	0	0	0	1	0	0	0	1522	1145	40	4	3497	4	BRPF1	3	9788110	Missense_Mutation	SNP	G	TCGA-V9-A7HT-01A-11D-A33Q-10		9788110	188234320	13	48716											
RARB	5915	hgsc.bcm.edu	37	3	25637915	25637915	+	Silent	SNP	A	A	T	rs61733682	byFrequency	TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr3:25637915A>T	ENST00000404969.1	+	8	1176	c.1176A>T	c.(1174-1176)gcA>gcT	p.A392A	RARB_ENST00000458646.1_Silent_p.A273A|RARB_ENST00000462272.1_3'UTR|RARB_ENST00000437042.2_Silent_p.A273A|RARB_ENST00000330688.4_Silent_p.A385A			P10826	RARB_HUMAN	retinoic acid receptor, beta	392	Ligand-binding.				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)	GAAAAGGTGCAGAGCGTGTAA	0.378																																																0													83	84	84					3																	25637915		2203	4300	6503	SO:0001819	synonymous_variant	5915			Y00291	CCDS2642.1, CCDS46775.1	3p24	2013-01-16			ENSG00000077092	ENSG00000077092		"Nuclear hormone receptors"	9865	protein-coding gene	gene with protein product		180220					Standard	NM_016152		Approved	HAP, NR1B2, RRB2	uc003cdh.3	P10826	OTTHUMG00000130480	ENST00000404969.1:c.1176A>T	chr3.hg19:g.25637915A>T			P12891|Q00989|Q15298|Q9UN48	Silent	SNP	ENST00000404969.1	hg19																																																																																					0.378	RARB-201	KNOWN	basic	protein_coding	protein_coding		NM_000965, NM_016152		T	25637915	A	T	25637915	2	4	813	1	0	0	0	0	0	0	0	1	13059	175	7	5		5	RARB	3	25637915	Silent	SNP	A	TCGA-V9-A7HT-01A-11D-A33Q-10	15849805	25637915	172384515	14	48717											
NEK10	152110	hgsc.bcm.edu	37	3	27346274	27346275	+	Frame_Shift_Ins	INS	-	-	A			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr3:27346274_27346275insA	ENST00000429845.2	-	13	1353_1354	c.991_992insT	c.(991-993)tggfs	p.W331fs	NEK10_ENST00000341435.5_Frame_Shift_Ins_p.W331fs			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	331					positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein autophosphorylation (GO:0031954)|protein phosphorylation (GO:0006468)|regulation of cell cycle G2/M phase transition (GO:1902749)|regulation of ERK1 and ERK2 cascade (GO:0070372)	protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GATGCCTCCCCAAATGCGAATT	0.49																																																0																																										SO:0001589	frameshift_variant	152110			AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491			18592	protein-coding gene	gene with protein product			"NIMA (never in mitosis gene a)- related kinase 10"			15289607	Standard	NM_199347		Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.992dupT	chr3.hg19:g.27346277_27346277dupA	ENSP00000395849:p.Trp331fs		A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Frame_Shift_Ins	INS	ENST00000429845.2	hg19																																																																																					0.49	NEK10-016	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000438156.1	NM_152534		A	27346275	-	A	27346274	7	5	813	1	0	1	1	0	0	0	0	0	10324	595	21	0	1198	0	NEK10	3	27346274	Frame_Shift_Ins	INS	-	TCGA-V9-A7HT-01A-11D-A33Q-10	1708359	27346274	170676156	15	48718											
FLNB	2317	hgsc.bcm.edu	37	3	58135898	58135898	+	Missense_Mutation	SNP	G	G	A			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr3:58135898G>A	ENST00000295956.4	+	38	6476	c.6311G>A	c.(6310-6312)cGg>cAg	p.R2104Q	FLNB_ENST00000419752.2_Missense_Mutation_p.R1924Q|FLNB_ENST00000490882.1_Missense_Mutation_p.R2135Q|FLNB_ENST00000493452.1_Missense_Mutation_p.R1911Q|FLNB_ENST00000358537.3_Missense_Mutation_p.R2080Q|FLNB_ENST00000357272.4_Missense_Mutation_p.R2104Q|FLNB_ENST00000348383.5_Intron|FLNB_ENST00000429972.2_Missense_Mutation_p.R2093Q	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2104	Interaction with FLNA 1.|Interaction with the cytoplasmic tail of GP1BA.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CGCACCAGTCGGGCCCCGTCC	0.612																																																0													101	111	107					3																	58135898		2203	4300	6503	SO:0001583	missense	2317			AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"actin binding protein 278"	603381	"filamin B, beta (actin binding protein 278)", "Larsen syndrome 1 (autosomal dominant)"	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.6311G>A	chr3.hg19:g.58135898G>A	ENSP00000295956:p.Arg2104Gln		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	ENST00000295956.4	hg19	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.941726	0.34283	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000357272;ENST00000493452;ENST00000419752	D;D;D;D;D;D;D	0.85484	-1.92;-1.92;-1.93;-1.93;-1.99;-1.68;-1.67	6.17	6.17	0.99709	Immunoglobulin E-set (1);	0.113900	0.64402	D	0.000008	T	0.66268	0.2772	N	0.04880	-0.145	0.45477	D	0.998443	P;B;D;B;P;P	0.52996	0.808;0.22;0.957;0.359;0.922;0.922	B;B;B;B;B;B	0.39152	0.193;0.058;0.292;0.015;0.292;0.292	T	0.70930	-0.4738	10	0.06757	T	0.87	.	13.9957	0.64397	0.0685:0.0:0.9315:0.0	.	2080;2135;1911;1924;2093;2104	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	Q	2104;2135;2080;2093;2104;1911;1924	ENSP00000295956:R2104Q;ENSP00000420213:R2135Q;ENSP00000351339:R2080Q;ENSP00000415599:R2093Q;ENSP00000349819:R2104Q;ENSP00000418510:R1911Q;ENSP00000414532:R1924Q	ENSP00000295956:R2104Q	R	+	2	0	FLNB	58110938	1.000000	0.71417	1.000000	0.80357	0.691000	0.40173	2.419000	0.44671	2.941000	0.99782	0.655000	0.94253	CGG		0.612	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		A	58135898	G	A	58135898	3	1	813	1	0	0	0	0	1	0	0	0	5936	1116	39	1	6558	1	FLNB	3	58135898	Missense_Mutation	SNP	G	TCGA-V9-A7HT-01A-11D-A33Q-10	30789624	58135898	139886532	16	48719											
SHQ1	55164	hgsc.bcm.edu	37	3	72881545	72881545	+	Missense_Mutation	SNP	C	C	T			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr3:72881545C>T	ENST00000325599.8	-	5	713	c.574G>A	c.(574-576)Gcc>Acc	p.A192T	SHQ1_ENST00000463369.1_Missense_Mutation_p.A164T	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor	192					negative regulation of rRNA processing (GO:2000233)|positive regulation of apoptotic process (GO:0043065)|ribonucleoprotein complex assembly (GO:0022618)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		TCAAACTTGGCCAGCTCAGCG	0.383																																																0													71	78	76					3																	72881545		2203	4300	6503	SO:0001583	missense	55164			BC025270	CCDS33788.1	3p13	2013-01-08	2013-01-08		ENSG00000144736	ENSG00000144736			25543	protein-coding gene	gene with protein product		613663	"SHQ1 homolog (S. cerevisiae)"			12477932	Standard	NM_018130		Approved	FLJ10539, Shq1p	uc003dpf.3	Q6PI26	OTTHUMG00000158814	ENST00000325599.8:c.574G>A	chr3.hg19:g.72881545C>T	ENSP00000315182:p.Ala192Thr		B4DL05|Q6MZJ4|Q7Z748|Q9H7E5|Q9NVS8	Missense_Mutation	SNP	ENST00000325599.8	hg19	CCDS33788.1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.970048	0.53614	.	.	ENSG00000144736	ENST00000325599;ENST00000463369;ENST00000482785	T;T;T	0.46063	0.88;0.88;0.88	5.95	4.1	0.47936	.	0.237159	0.42548	N	0.000699	T	0.34193	0.0889	M	0.62016	1.91	0.47547	D	0.999451	P	0.40360	0.714	B	0.34180	0.177	T	0.13229	-1.0517	10	0.15952	T	0.53	-3.5238	10.9513	0.47332	0.0:0.7981:0.1303:0.0717	.	192	Q6PI26	SHQ1_HUMAN	T	192;164;103	ENSP00000315182:A192T;ENSP00000417452:A164T;ENSP00000418398:A103T	ENSP00000315182:A192T	A	-	1	0	SHQ1	72964235	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	1.403000	0.34612	1.519000	0.48950	0.585000	0.79938	GCC		0.383	SHQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352310.1	NM_018130		T	72881545	C	T	72881545	3	4	813	1	0	0	0	0	1	0	0	0	14298	739	26	2	1187	2	SHQ1	3	72881545	Missense_Mutation	SNP	C	TCGA-V9-A7HT-01A-11D-A33Q-10	14745647	72881545	125140885	17	48720											
MCF2L2	23101	hgsc.bcm.edu	37	3	183017880	183017880	+	Silent	SNP	C	C	T			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr3:183017880C>T	ENST00000328913.3	-	11	1515	c.1218G>A	c.(1216-1218)agG>agA	p.R406R	MCF2L2_ENST00000473233.1_Silent_p.R406R|MCF2L2_ENST00000447025.2_Silent_p.R406R|MCF2L2_ENST00000414362.2_Silent_p.R406R	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	406							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)			CACAGAGGTGCCTGAGCTCCA	0.507																																																0													104	98	100					3																	183017880		2203	4300	6503	SO:0001819	synonymous_variant	23101			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.1218G>A	chr3.hg19:g.183017880C>T			O94942|Q6P2B8|Q6ZVJ5|Q8N318	Silent	SNP	ENST00000328913.3	hg19	CCDS3243.1																																																																																				0.507	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078		T	183017880	C	T	183017880	2	4	813	1	0	0	0	0	0	0	0	1	9382	738	26	2		2	MCF2L2	3	183017880	Silent	SNP	C	TCGA-V9-A7HT-01A-11D-A33Q-10	110136335	183017880	15004550	18	48721											
SLIT2	9353	hgsc.bcm.edu	37	4	20258328	20258328	+	Silent	SNP	G	G	C	rs377588103		TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr4:20258328G>C	ENST00000504154.1	+	2	465	c.213G>C	c.(211-213)acG>acC	p.T71T	SLIT2_ENST00000273739.5_Silent_p.T71T|SLIT2_ENST00000503823.1_Silent_p.T71T|SLIT2_ENST00000503837.1_Silent_p.T71T	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	71					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						CAAGAATTACGAAGACAGATT	0.299																																																0													87	94	92					4																	20258328		2203	4297	6500	SO:0001819	synonymous_variant	9353			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"slit (Drosophila) homolog 2"	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.213G>C	chr4.hg19:g.20258328G>C			B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Silent	SNP	ENST00000504154.1	hg19	CCDS3426.1																																																																																				0.299	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			C	20258328	G	C	20258328	2	2	813	1	0	0	0	0	0	0	0	1	14746	1045	37	4		4	SLIT2	4	20258328	Silent	SNP	G	TCGA-V9-A7HT-01A-11D-A33Q-10		20258328	170895948	19	48722											
SNCAIP	9627	hgsc.bcm.edu	37	5	121780389	121780389	+	Silent	SNP	G	G	T			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr5:121780389G>T	ENST00000261368.8	+	8	1816	c.1554G>T	c.(1552-1554)ctG>ctT	p.L518L	CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000379533.2_Silent_p.L565L|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000379536.2_Silent_p.L458L|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000542191.1_Silent_p.L76L|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000261367.7_Silent_p.L565L|SNCAIP_ENST00000379538.3_Silent_p.L152L|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000414317.2_Silent_p.L120L|CTC-210G5.1_ENST00000509993.1_RNA	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	518					cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		GCATGTCGCTGGCCTCTCAAG	0.552																																																0													80	77	78					5																	121780389		2203	4300	6503	SO:0001819	synonymous_variant	9627			AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"Ankyrin repeat domain containing"	11139	protein-coding gene	gene with protein product	"synphilin"	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.1554G>T	chr5.hg19:g.121780389G>T			D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Silent	SNP	ENST00000261368.8	hg19	CCDS4131.1																																																																																				0.552	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250888.1			T	121780389	G	T	121780389	2	4	813	1	0	0	0	0	0	0	0	1	14847	1335	47	4		4	SNCAIP	5	121780389	Silent	SNP	G	TCGA-V9-A7HT-01A-11D-A33Q-10		121780389	59134871	20	48723											
PCDHGB3	56102	hgsc.bcm.edu	37	5	140752308	140752308	+	Missense_Mutation	SNP	G	G	T			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr5:140752308G>T	ENST00000576222.1	+	1	2478	c.2347G>T	c.(2347-2349)Gat>Tat	p.D783Y	PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_5'Flank|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	783					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)			TCTTCTATGTGATGAAGCCTC	0.378																																																0													58	53	55					5																	140752308		1866	4110	5976	SO:0001583	missense	56102			AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.2347G>T	chr5.hg19:g.140752308G>T	ENSP00000461862:p.Asp783Tyr		A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	hg19	CCDS58980.1																																																																																				0.378	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		T	140752308	G	T	140752308	3	4	813	1	0	0	0	0	1	0	0	0	11566	1290	45	4	2349	4	PCDHGB3	5	140752308	Missense_Mutation	SNP	G	TCGA-V9-A7HT-01A-11D-A33Q-10	18971919	140752308	40162952	21	48724											
XPO5	57510	hgsc.bcm.edu	37	6	43498437	43498437	+	Missense_Mutation	SNP	C	C	G			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr6:43498437C>G	ENST00000265351.7	-	23	2876	c.2666G>C	c.(2665-2667)aGa>aCa	p.R889T		NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	889					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)			AAGCATGGGTCTGAGTCGGTA	0.453																																																0													112	106	108					6																	43498437		1922	4141	6063	SO:0001583	missense	57510			AB033117	CCDS47430.1	6p21.1	2011-04-13			ENSG00000124571	ENSG00000124571		"Exportins"	17675	protein-coding gene	gene with protein product		607845				11777942, 12426392	Standard	NM_020750		Approved	KIAA1291	uc003ovp.3	Q9HAV4	OTTHUMG00000014742	ENST00000265351.7:c.2666G>C	chr6.hg19:g.43498437C>G	ENSP00000265351:p.Arg889Thr		Q5JTE6|Q96G48|Q96HN3|Q9BWM6|Q9BZV5|Q9H9M4|Q9NT89|Q9NW39|Q9ULC9	Missense_Mutation	SNP	ENST00000265351.7	hg19	CCDS47430.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.247509	0.80024	.	.	ENSG00000124571	ENST00000265351;ENST00000436943;ENST00000372258;ENST00000439465	T	0.70869	-0.52	5.83	5.83	0.93111	Armadillo-like helical (1);Armadillo-type fold (1);	0.052809	0.64402	D	0.000001	T	0.65554	0.2702	M	0.68593	2.085	0.58432	D	0.999996	P	0.46706	0.883	B	0.40375	0.327	T	0.72808	-0.4181	10	0.72032	D	0.01	-16.8308	20.1133	0.97917	0.0:1.0:0.0:0.0	.	889	Q9HAV4	XPO5_HUMAN	T	889;594;429;517	ENSP00000265351:R889T	ENSP00000265351:R889T	R	-	2	0	XPO5	43606415	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.630000	0.67805	2.762000	0.94881	0.591000	0.81541	AGA		0.453	XPO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040657.2	NM_020750		G	43498437	C	G	43498437	3	3	813	1	0	0	0	0	1	0	0	0	17452	913	32	4	988	4	XPO5	6	43498437	Missense_Mutation	SNP	C	TCGA-V9-A7HT-01A-11D-A33Q-10		43498437	127616630	22	48725											
HCRTR2	3062	hgsc.bcm.edu	37	6	55142245	55142245	+	Missense_Mutation	SNP	G	G	A			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr6:55142245G>A	ENST00000370862.3	+	5	1166	c.830G>A	c.(829-831)gGg>gAg	p.G277E		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	277					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)			CAGCCTCGAGGGCCAGGACAG	0.517																																																0													72	75	74					6																	55142245		2203	4300	6503	SO:0001583	missense	3062			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.830G>A	chr6.hg19:g.55142245G>A	ENSP00000359899:p.Gly277Glu		Q5VTM0	Missense_Mutation	SNP	ENST00000370862.3	hg19	CCDS4956.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.818157	0.71028	.	.	ENSG00000137252	ENST00000370862	T	0.63255	-0.03	5.84	4.05	0.47172	GPCR, rhodopsin-like superfamily (1);	0.326969	0.35320	N	0.003299	T	0.55194	0.1905	M	0.78801	2.425	0.49582	D	0.999802	B	0.34241	0.444	B	0.41571	0.36	T	0.56968	-0.7891	10	0.38643	T	0.18	.	12.8874	0.58051	0.0:0.1242:0.7463:0.1294	.	277	O43614	OX2R_HUMAN	E	277	ENSP00000359899:G277E	ENSP00000359899:G277E	G	+	2	0	HCRTR2	55250204	0.973000	0.33851	0.621000	0.29145	0.603000	0.37013	1.636000	0.37144	0.802000	0.34089	0.650000	0.86243	GGG		0.517	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1			A	55142245	G	A	55142245	3	1	813	1	0	0	0	0	1	0	0	0	7004	1232	43	2	848	2	HCRTR2	6	55142245	Missense_Mutation	SNP	G	TCGA-V9-A7HT-01A-11D-A33Q-10	11643808	55142245	115972822	23	48726											
KHDRBS2	202559	hgsc.bcm.edu	37	6	62604622	62604622	+	Missense_Mutation	SNP	G	G	A			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr6:62604622G>A	ENST00000281156.4	-	6	1006	c.728C>T	c.(727-729)cCt>cTt	p.P243L		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	243	Pro-rich.				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)	p.P243L(1)		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)		TCGAGGGGTAGGGACACCTCT	0.577																																																1	Substitution - Missense(1)	lung(1)											56	56	56					6																	62604622		2203	4300	6503	SO:0001583	missense	202559			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.728C>T	chr6.hg19:g.62604622G>A	ENSP00000281156:p.Pro243Leu		A8K7M8|Q8N4I4|Q8TCZ4	Missense_Mutation	SNP	ENST00000281156.4	hg19	CCDS4963.1	.	.	.	.	.	.	.	.	.	.	G	11.42	1.634280	0.29068	.	.	ENSG00000112232	ENST00000281156;ENST00000539571	T	0.43688	0.94	5.52	5.52	0.82312	.	0.169262	0.52532	D	0.000068	T	0.21347	0.0514	N	0.25201	0.72	0.53688	D	0.99997	B	0.06786	0.001	B	0.06405	0.002	T	0.02358	-1.1171	10	0.42905	T	0.14	-0.0854	19.7889	0.96450	0.0:0.0:1.0:0.0	.	243	Q5VWX1	KHDR2_HUMAN	L	243	ENSP00000281156:P243L	ENSP00000281156:P243L	P	-	2	0	KHDRBS2	62662581	1.000000	0.71417	0.965000	0.40720	0.996000	0.88848	7.731000	0.84895	2.734000	0.93682	0.655000	0.94253	CCT		0.577	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041066.2	NM_152688		A	62604622	G	A	62604622	3	1	813	1	0	0	0	0	1	0	0	0	8149	1000	35	2	337	2	KHDRBS2	6	62604622	Missense_Mutation	SNP	G	TCGA-V9-A7HT-01A-11D-A33Q-10	7462377	62604622	108510445	24	48727											
UTRN	7402	hgsc.bcm.edu	37	6	144811284	144811284	+	Silent	SNP	C	C	A			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr6:144811284C>A	ENST00000367545.3	+	30	4212	c.4212C>A	c.(4210-4212)acC>acA	p.T1404T		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1404	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)		AGCCCCTGACCTCCCCAGAGA	0.468																																																0													82	88	86					6																	144811284		2203	4300	6503	SO:0001819	synonymous_variant	7402			AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"utrophin (homologous to dystrophin)"	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.4212C>A	chr6.hg19:g.144811284C>A			Q5SYY1|Q5SZ57|Q9UJ40	Silent	SNP	ENST00000367545.3	hg19	CCDS34547.1																																																																																				0.468	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			A	144811284	C	A	144811284	2	1	813	1	0	0	0	0	0	0	0	1	17108	668	24	4		4	UTRN	6	144811284	Silent	SNP	C	TCGA-V9-A7HT-01A-11D-A33Q-10	82206662	144811284	26303783	25	48728											
AKAP12	9590	hgsc.bcm.edu	37	6	151674035	151674035	+	Missense_Mutation	SNP	G	G	T			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr6:151674035G>T	ENST00000253332.1	+	3	4698	c.4509G>T	c.(4507-4509)gaG>gaT	p.E1503D	AKAP12_ENST00000402676.2_Missense_Mutation_p.E1503D|AKAP12_ENST00000359755.5_Missense_Mutation_p.E1398D|AKAP12_ENST00000354675.6_Missense_Mutation_p.E1405D			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1503					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		TGGAAGGAGAGAAAACCACAT	0.483																																					Melanoma(141;1616 1805 10049 24534 51979)											0													104	104	104					6																	151674035		2203	4300	6503	SO:0001583	missense	9590			U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"A-kinase anchor proteins"	370	protein-coding gene	gene with protein product	"gravin", "Src-Suppressed C Kinase Substrate"	604698	"A kinase (PRKA) anchor protein (gravin) 12"			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.4509G>T	chr6.hg19:g.151674035G>T	ENSP00000253332:p.Glu1503Asp		O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	ENST00000253332.1	hg19	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	G	8.226	0.803473	0.16397	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.06528	3.29;3.29;3.32;3.32	4.89	-7.41	0.01392	.	0.486247	0.15127	N	0.279075	T	0.00580	0.0019	N	0.11201	0.11	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.002;0.001	T	0.46652	-0.9176	10	0.20519	T	0.43	.	0.6764	0.00867	0.2365:0.3173:0.1924:0.2538	.	1398;1405;1503	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	D	1503;1503;1405;1398	ENSP00000384537:E1503D;ENSP00000253332:E1503D;ENSP00000346702:E1405D;ENSP00000352794:E1398D	ENSP00000253332:E1503D	E	+	3	2	AKAP12	151715728	0.000000	0.05858	0.002000	0.10522	0.478000	0.33099	-2.638000	0.00866	-0.945000	0.03681	0.650000	0.86243	GAG		0.483	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			T	151674035	G	T	151674035	3	4	813	1	0	0	0	0	1	0	0	0	448	933	33	4	4548	4	AKAP12	6	151674035	Missense_Mutation	SNP	G	TCGA-V9-A7HT-01A-11D-A33Q-10	6862751	151674035	19441032	26	48729											
MLLT4	4301	hgsc.bcm.edu	37	6	168347513	168347513	+	Missense_Mutation	SNP	A	A	G			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr6:168347513A>G	ENST00000447894.2	+	26	3464	c.3464A>G	c.(3463-3465)aAg>aGg	p.K1155R	MLLT4_ENST00000392108.3_Missense_Mutation_p.K1155R|MLLT4_ENST00000507679.1_3'UTR|MLLT4_ENST00000366806.2_Missense_Mutation_p.K1155R|MLLT4_ENST00000392112.1_Missense_Mutation_p.K1138R|MLLT4_ENST00000351017.4_Missense_Mutation_p.K1162R|MLLT4_ENST00000400822.3_Missense_Mutation_p.K1154R|MLLT4_ENST00000344191.4_Missense_Mutation_p.K1155R			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1155					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)		AGTGAACCAAAGAAATTGCCT	0.448			T	MLL	AL																																		Dom	yes		6	6q27	4301	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"		L	0													122	126	125					6																	168347513		2203	4300	6503	SO:0001583	missense	4301			AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.3464A>G	chr6.hg19:g.168347513A>G	ENSP00000404595:p.Lys1155Arg		O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	ENST00000447894.2	hg19		.	.	.	.	.	.	.	.	.	.	A	22.2	4.253254	0.80135	.	.	ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894	T;T;T;T;T;T;T	0.04809	3.78;3.68;3.77;3.76;3.55;3.67;3.68	5.36	4.19	0.49359	.	0.056942	0.64402	D	0.000001	T	0.08670	0.0215	M	0.72479	2.2	0.53005	D	0.999969	P;D;P;P	0.76494	0.539;0.999;0.663;0.89	B;D;B;B	0.85130	0.132;0.997;0.159;0.374	T	0.28073	-1.0055	10	0.16896	T	0.51	-4.4903	11.4921	0.50387	0.929:0.0:0.071:0.0	.	1155;1154;1155;1139	P55196;P55196-5;P55196-6;P55196-2	AFAD_HUMAN;.;.;.	R	1155;1162;1155;1155;1138;1155;1154;1155	ENSP00000341118:K1155R;ENSP00000252692:K1162R;ENSP00000375956:K1155R;ENSP00000355771:K1155R;ENSP00000375960:K1138R;ENSP00000383623:K1154R;ENSP00000404595:K1155R	ENSP00000345834:K1155R	K	+	2	0	MLLT4	168090362	1.000000	0.71417	0.926000	0.36857	0.909000	0.53808	6.763000	0.74955	0.965000	0.38133	0.533000	0.62120	AAG		0.448	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		G	168347513	A	G	168347513	3	3	813	1	0	0	0	0	1	0	0	0	9631	72	3	3	3566	3	MLLT4	6	168347513	Missense_Mutation	SNP	A	TCGA-V9-A7HT-01A-11D-A33Q-10	16673478	168347513	2767554	27	48730											
FGL2	10875	hgsc.bcm.edu	37	7	76826164	76826164	+	Missense_Mutation	SNP	C	C	G			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr7:76826164C>G	ENST00000248598.5	-	2	784	c.752G>C	c.(751-753)tGg>tCg	p.W251S	CCDC146_ENST00000285871.4_Intron|CCDC146_ENST00000431197.1_Intron|RP11-467H10.2_ENST00000459742.1_RNA	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	251	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						CAGCACTGTCCAGCCTCCCCC	0.493																																																0													112	107	108					7																	76826164		2203	4300	6503	SO:0001583	missense	10875			Z36531	CCDS5591.1	7q11.23	2013-02-06			ENSG00000127951	ENSG00000127951		"Fibrinogen C domain containing"	3696	protein-coding gene	gene with protein product		605351				7642106	Standard	NM_006682		Approved	pT49, T49	uc003ugb.3	Q14314	OTTHUMG00000130681	ENST00000248598.5:c.752G>C	chr7.hg19:g.76826164C>G	ENSP00000248598:p.Trp251Ser			Missense_Mutation	SNP	ENST00000248598.5	hg19	CCDS5591.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.215375	0.79352	.	.	ENSG00000127951	ENST00000248598	D	0.91686	-2.89	5.87	5.87	0.94306	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.85682	D	0.000000	D	0.97739	0.9258	H	0.96889	3.9	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98417	1.0575	10	0.87932	D	0	.	19.8132	0.96556	0.0:1.0:0.0:0.0	.	251	Q14314	FGL2_HUMAN	S	251	ENSP00000248598:W251S	ENSP00000248598:W251S	W	-	2	0	FGL2	76664100	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.487000	0.81328	2.785000	0.95823	0.655000	0.94253	TGG		0.493	FGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253176.1	NM_006682		G	76826164	C	G	76826164	3	3	813	1	0	0	0	0	1	0	0	0	5875	595	21	4	571	4	FGL2	7	76826164	Missense_Mutation	SNP	C	TCGA-V9-A7HT-01A-11D-A33Q-10		76826164	82312499	28	48731											
SRPK2	6733	hgsc.bcm.edu	37	7	104783659	104783659	+	Missense_Mutation	SNP	T	T	G			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr7:104783659T>G	ENST00000393651.3	-	10	1019	c.932A>C	c.(931-933)aAa>aCa	p.K311T	SRPK2_ENST00000489828.1_Missense_Mutation_p.K300T|SRPK2_ENST00000357311.3_Missense_Mutation_p.K300T	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						TTCTATTATTTTCCTTTCAGC	0.433																																																0													132	117	122					7																	104783659		2203	4300	6503	SO:0001583	missense	6733			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.932A>C	chr7.hg19:g.104783659T>G	ENSP00000377262:p.Lys311Thr			Missense_Mutation	SNP	ENST00000393651.3	hg19	CCDS34724.1	.	.	.	.	.	.	.	.	.	.	T	18.34	3.603271	0.66445	.	.	ENSG00000135250	ENST00000393651;ENST00000357311;ENST00000489828	T;T;T	0.31510	1.49;1.5;1.5	5.68	5.68	0.88126	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.191930	0.44483	D	0.000456	T	0.27063	0.0663	N	0.16478	0.41	0.51012	D	0.999906	P;P	0.51933	0.949;0.808	P;B	0.49085	0.6;0.201	T	0.03630	-1.1018	10	0.18710	T	0.47	-23.6027	15.9347	0.79694	0.0:0.0:0.0:1.0	.	311;300	P78362-2;P78362	.;SRPK2_HUMAN	T	311;300;300	ENSP00000377262:K311T;ENSP00000349863:K300T;ENSP00000419791:K300T	ENSP00000349863:K300T	K	-	2	0	SRPK2	104570895	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.834000	0.55798	2.167000	0.68274	0.454000	0.30748	AAA		0.433	SRPK2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348723.1	NM_182691		G	104783659	T	G	104783659	3	3	813	1	0	0	0	0	1	0	0	0	15165	1841	64	5	1195	5	SRPK2	7	104783659	Missense_Mutation	SNP	T	TCGA-V9-A7HT-01A-11D-A33Q-10	27957495	104783659	54355004	29	48732											
IQUB	154865	hgsc.bcm.edu	37	7	123152366	123152366	+	Missense_Mutation	SNP	G	G	T			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr7:123152366G>T	ENST00000466202.1	-	2	605	c.29C>A	c.(28-30)gCt>gAt	p.A10D	IQUB_ENST00000324698.6_Missense_Mutation_p.A10D|IQUB_ENST00000488987.1_Intron|IQUB_ENST00000434450.1_Missense_Mutation_p.A10D	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	10					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TATATTCTGAGCTTCATACTT	0.333																																																0													79	78	78					7																	123152366		2203	4300	6503	SO:0001583	missense	154865			AK093153	CCDS5787.1	7q31.32	2010-03-19			ENSG00000164675	ENSG00000164675			21995	protein-coding gene	gene with protein product							Standard	NM_178827		Approved	FLJ35834	uc003vko.3	Q8NA54	OTTHUMG00000157347	ENST00000466202.1:c.29C>A	chr7.hg19:g.123152366G>T	ENSP00000417769:p.Ala10Asp		A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Missense_Mutation	SNP	ENST00000466202.1	hg19	CCDS5787.1	.	.	.	.	.	.	.	.	.	.	G	8.113	0.779300	0.16120	.	.	ENSG00000164675	ENST00000466202;ENST00000324698;ENST00000434450	T;T;T	0.51071	1.75;1.75;0.72	4.04	-0.916	0.10489	.	5.141830	0.00397	N	0.000040	T	0.30355	0.0762	L	0.27053	0.805	0.09310	N	1	B;P;P	0.43701	0.392;0.815;0.718	B;B;B	0.36885	0.095;0.235;0.086	T	0.14839	-1.0458	10	0.29301	T	0.29	.	3.4549	0.07511	0.3929:0.0:0.4308:0.1763	.	10;10;10	A1A4Z1;Q8NA54-2;Q8NA54	.;.;IQUB_HUMAN	D	10	ENSP00000417769:A10D;ENSP00000324882:A10D;ENSP00000388498:A10D	ENSP00000324882:A10D	A	-	2	0	IQUB	122939602	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.095000	0.11077	-0.190000	0.10465	-0.262000	0.10625	GCT		0.333	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348529.1	NM_178827		T	123152366	G	T	123152366	3	4	813	1	0	0	0	0	1	0	0	0	7822	971	34	4	2394	4	IQUB	7	123152366	Missense_Mutation	SNP	G	TCGA-V9-A7HT-01A-11D-A33Q-10	18368707	123152366	35986297	30	48733											
CCDC136	64753	hgsc.bcm.edu	37	7	128452883	128452883	+	Missense_Mutation	SNP	A	A	T			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr7:128452883A>T	ENST00000297788.4	+	14	3030	c.2663A>T	c.(2662-2664)cAg>cTg	p.Q888L	CCDC136_ENST00000464832.1_Intron|CCDC136_ENST00000487361.1_Intron|CCDC136_ENST00000378685.4_Intron	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	888						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						CTGGCCAAGCAGAAAGACCTG	0.527																																																0													58	61	60					7																	128452883		1971	4163	6134	SO:0001583	missense	64753				CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.2663A>T	chr7.hg19:g.128452883A>T	ENSP00000297788:p.Gln888Leu		A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Missense_Mutation	SNP	ENST00000297788.4	hg19	CCDS47704.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.99|15.99	2.996429|2.996429	0.54147|0.54147	.|.	.|.	ENSG00000128596|ENSG00000128596	ENST00000297788;ENST00000397697;ENST00000320524;ENST00000464672|ENST00000494552	T|.	0.31769|.	1.48|.	5.6|5.6	4.38|4.38	0.52667|0.52667	.|.	0.105029|.	0.42821|.	D|.	0.000649|.	T|.	0.48857|.	0.1523|.	L|L	0.52126|0.52126	1.63|1.63	0.32437|0.32437	N|N	0.547286|0.547286	B;B;P|.	0.40638|.	0.297;0.129;0.725|.	B;B;P|.	0.48166|.	0.189;0.067;0.569|.	T|.	0.57388|.	-0.7820|.	10|.	0.21540|.	T|.	0.41|.	-30.5478|-30.5478	9.3378|9.3378	0.38060|0.38060	0.8402:0.0:0.0:0.1598|0.8402:0.0:0.0:0.1598	.|.	888;888;888|.	Q96JN2-4;Q96JN2-2;Q96JN2|.	.;.;CC136_HUMAN|.	L|X	888;888;888;479|765	ENSP00000297788:Q888L|.	ENSP00000297788:Q888L|.	Q|R	+|+	2|1	0|2	CCDC136|CCDC136	128240119|128240119	1.000000|1.000000	0.71417|0.71417	0.889000|0.889000	0.34880|0.34880	0.017000|0.017000	0.09413|0.09413	2.557000|2.557000	0.45871|0.45871	2.257000|2.257000	0.74773|0.74773	0.533000|0.533000	0.62120|0.62120	CAG|AGA		0.527	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350641.1	NM_022742		T	128452883	A	T	128452883	3	4	813	1	0	0	0	0	1	0	0	0	2772	188	7	5	2717	5	CCDC136	7	128452883	Missense_Mutation	SNP	A	TCGA-V9-A7HT-01A-11D-A33Q-10	5300517	128452883	30685780	31	48734											
KCNH2	3757	hgsc.bcm.edu	37	7	150649865	150649865	+	Missense_Mutation	SNP	T	T	C	rs199473506		TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr7:150649865T>C	ENST00000262186.5	-	6	1606	c.1205A>G	c.(1204-1206)cAt>cGt	p.H402R	KCNH2_ENST00000330883.4_Missense_Mutation_p.H62R|KCNH2_ENST00000430723.3_Missense_Mutation_p.H402R|KCNH2_ENST00000392968.2_Missense_Mutation_p.H306R	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	402					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)			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	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)	GGGGCTGTAATGCAGGATGGT	0.642																																					GBM(137;110 1844 13671 20123 45161)											0													133	110	118					7																	150649865		2203	4300	6503	SO:0001583	missense	3757			U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.1205A>G	chr7.hg19:g.150649865T>C	ENSP00000262186:p.His402Arg		A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	ENST00000262186.5	hg19	CCDS5910.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.546889	0.86022	.	.	ENSG00000055118	ENST00000330883;ENST00000392968;ENST00000262186;ENST00000350328;ENST00000430723	D;D;D;D	0.97378	-4.36;-4.36;-4.36;-4.36	4.82	4.82	0.62117	.	0.052173	0.85682	D	0.000000	D	0.98729	0.9573	H	0.94620	3.56	0.49798	D	0.999825	D;D;B;P;D	0.89917	0.993;1.0;0.2;0.691;0.963	D;D;B;B;P	0.80764	0.977;0.994;0.167;0.414;0.781	D	0.99497	1.0952	10	0.72032	D	0.01	.	12.3518	0.55153	0.0:0.0:0.0:1.0	.	306;402;62;402;62	C4PFH9;G5E9I0;Q708S9;Q12809;Q12809-2	.;.;.;KCNH2_HUMAN;.	R	62;306;402;62;402	ENSP00000328531:H62R;ENSP00000376695:H306R;ENSP00000262186:H402R;ENSP00000387657:H402R	ENSP00000262186:H402R	H	-	2	0	KCNH2	150280798	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.892000	0.87324	1.820000	0.53075	0.459000	0.35465	CAT		0.642	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350741.2	NM_000238		C	150649865	T	C	150649865	3	2	813	1	0	0	0	0	1	0	0	0	8034	1464	51	3	2583	3	KCNH2	7	150649865	Missense_Mutation	SNP	T	TCGA-V9-A7HT-01A-11D-A33Q-10	22196982	150649865	8488798	32	48735											
MLL3	58508	hgsc.bcm.edu	37	7	151878422	151878422	+	Missense_Mutation	SNP	T	T	C			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr7:151878422T>C	ENST00000262189.6	-	36	6741	c.6523A>G	c.(6523-6525)Agt>Ggt	p.S2175G	KMT2C_ENST00000355193.2_Missense_Mutation_p.S2175G	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2175	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GGCTGCTGACTATATGGGTCA	0.468																																																0													125	125	125					7																	151878422		2203	4300	6503	SO:0001583	missense	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.6523A>G	chr7.hg19:g.151878422T>C	ENSP00000262189:p.Ser2175Gly		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	hg19	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	T	9.208	1.030201	0.19512	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.84800	-1.89;-1.9	5.51	2.94	0.34122	.	0.600694	0.14603	N	0.309499	T	0.80618	0.4657	L	0.59436	1.845	0.51012	D	0.999901	B;B	0.19200	0.001;0.034	B;B	0.24394	0.001;0.053	T	0.74022	-0.3798	10	0.38643	T	0.18	.	6.6601	0.23009	0.2679:0.0:0.1394:0.5927	.	2175;1236	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	G	2175	ENSP00000262189:S2175G;ENSP00000347325:S2175G	ENSP00000262189:S2175G	S	-	1	0	MLL3	151509355	0.026000	0.19158	0.794000	0.32065	0.870000	0.49936	0.688000	0.25422	0.892000	0.36259	0.533000	0.62120	AGT		0.468	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			C	151878422	T	C	151878422	3	2	813	1	0	0	0	0	1	0	0	0	9624	1522	53	3	8308	3	MLL3	7	151878422	Missense_Mutation	SNP	T	TCGA-V9-A7HT-01A-11D-A33Q-10	1228557	151878422	7260241	33	48736											
NEFL	4747	hgsc.bcm.edu	37	8	24813060	24813060	+	RNA	SNP	C	C	A	rs267607537		TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr8:24813060C>A	ENST00000221169.5	-	0	1564				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)		TCATTCATGCCCCGGCATGCT	0.642																																																0													51	53	52					8																	24813060		2088	4204	6292			4747				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		chr8.hg19:g.24813060C>A			B9ZVN2|Q16154|Q8IU72	Missense_Mutation	SNP	ENST00000221169.5	hg19																																																																																					0.642	NEFL-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000258943.4	NM_006158		A	24813060	C	A	24813060	1	1	813	0	1	0	0	0	0	0	0	0	10317	623	22	4		4	NEFL	8	24813060	RNA	SNP	C	TCGA-V9-A7HT-01A-11D-A33Q-10		24813060	121550962	34	48737											
SULF1	23213	hgsc.bcm.edu	37	8	70515847	70515847	+	Silent	SNP	C	C	T			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr8:70515847C>T	ENST00000260128.4	+	12	1920	c.1203C>T	c.(1201-1203)aaC>aaT	p.N401N	SULF1_ENST00000402687.4_Silent_p.N401N|SULF1_ENST00000419716.3_Silent_p.N401N|SULF1_ENST00000458141.2_Silent_p.N401N|SULF1_ENST00000521946.1_3'UTR	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	401					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)			TTCGAACAAACAAGAAGGCCA	0.418																																																0													106	103	104					8																	70515847		2203	4300	6503	SO:0001819	synonymous_variant	23213			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.1203C>T	chr8.hg19:g.70515847C>T			Q86YV8|Q8NCA2|Q9UPS5	Silent	SNP	ENST00000260128.4	hg19	CCDS6204.1																																																																																				0.418	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		T	70515847	C	T	70515847	2	4	813	1	0	0	0	0	0	0	0	1	15375	477	17	2		2	SULF1	8	70515847	Silent	SNP	C	TCGA-V9-A7HT-01A-11D-A33Q-10	45702787	70515847	75848175	35	48738											
UBR5	51366	hgsc.bcm.edu	37	8	103266727	103266727	+	Missense_Mutation	SNP	A	A	T			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr8:103266727A>T	ENST00000520539.1	-	59	8809	c.8203T>A	c.(8203-8205)Tca>Aca	p.S2735T	UBR5_ENST00000518205.1_Missense_Mutation_p.S463T|UBR5_ENST00000521922.1_Missense_Mutation_p.S2728T|UBR5_ENST00000220959.4_Missense_Mutation_p.S2734T|KB-431C1.4_ENST00000520820.1_RNA|KB-431C1.5_ENST00000606361.1_RNA|KB-431C1.4_ENST00000499653.1_RNA	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2735	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)			GATGGGCTTGATGTCCAAAAG	0.393																																					Ovarian(131;96 1741 5634 7352 27489)											0													125	114	118					8																	103266727		2203	4300	6503	SO:0001583	missense	51366			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.8203T>A	chr8.hg19:g.103266727A>T	ENSP00000429084:p.Ser2735Thr		B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	hg19	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	A	19.37	3.814109	0.70912	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000518205;ENST00000521922	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.64	5.64	0.86602	HECT (4);	0.000000	0.64402	D	0.000001	T	0.64702	0.2622	M	0.86097	2.795	0.58432	D	0.999999	D;D	0.53151	0.958;0.958	P;P	0.57283	0.817;0.817	T	0.71361	-0.4616	10	0.72032	D	0.01	.	15.8548	0.78968	1.0:0.0:0.0:0.0	.	2728;2735	E7EMW7;O95071	.;UBR5_HUMAN	T	2735;2734;463;2728	ENSP00000429084:S2735T;ENSP00000220959:S2734T;ENSP00000428693:S463T;ENSP00000427819:S2728T	ENSP00000220959:S2734T	S	-	1	0	UBR5	103335903	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.169000	0.94788	2.138000	0.66242	0.460000	0.39030	TCA		0.393	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		T	103266727	A	T	103266727	3	4	813	1	0	0	0	0	1	0	0	0	16910	333	12	5	200	5	UBR5	8	103266727	Missense_Mutation	SNP	A	TCGA-V9-A7HT-01A-11D-A33Q-10	32750880	103266727	43097295	36	48739											
PTPRD	5789	hgsc.bcm.edu	37	9	8341221	8341221	+	Missense_Mutation	SNP	A	A	C			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr9:8341221A>C	ENST00000381196.4	-	38	5538	c.4995T>G	c.(4993-4995)aaT>aaG	p.N1665K	PTPRD_ENST00000540109.1_Missense_Mutation_p.N1665K|PTPRD_ENST00000356435.5_Missense_Mutation_p.N1665K|PTPRD_ENST00000397611.3_Missense_Mutation_p.N1255K|PTPRD_ENST00000537002.1_Missense_Mutation_p.N1255K|PTPRD_ENST00000360074.4_Missense_Mutation_p.N1652K|PTPRD_ENST00000358503.5_Missense_Mutation_p.N1643K|PTPRD_ENST00000355233.5_Missense_Mutation_p.N1259K|PTPRD_ENST00000486161.1_Missense_Mutation_p.N1258K|PTPRD_ENST00000397606.3_Missense_Mutation_p.N1258K|PTPRD_ENST00000397617.3_Missense_Mutation_p.N1258K	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1665	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				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)		TACATGGAAGATTGGCACTGA	0.388										TSP Lung(15;0.13)																																						0													177	194	188					9																	8341221		2203	4300	6503	SO:0001583	missense	5789			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.4995T>G	chr9.hg19:g.8341221A>C	ENSP00000370593:p.Asn1665Lys		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	hg19	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	A	13.81	2.347906	0.41599	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.10860	2.83;2.83;2.83;2.83;2.83;2.83;2.83;2.83;2.83;2.83;2.83	6.07	4.93	0.64822	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.094396	0.64402	D	0.000001	T	0.11452	0.0279	L	0.41632	1.29	0.54753	D	0.999983	P;P;P;P;P;P;P;P;P	0.52842	0.525;0.525;0.525;0.525;0.58;0.656;0.956;0.892;0.615	B;B;B;B;B;B;B;B;B	0.43701	0.014;0.014;0.014;0.014;0.176;0.031;0.428;0.266;0.085	T	0.07139	-1.0788	9	.	.	.	.	12.3228	0.54993	0.9341:0.0:0.0659:0.0	.	1258;1249;1258;1259;1255;1255;1652;1665;1665	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	K	1665;1665;1652;1643;1259;1258;1255;1255;1136;1665;1258;1258	ENSP00000370593:N1665K;ENSP00000348812:N1665K;ENSP00000353187:N1652K;ENSP00000351293:N1643K;ENSP00000347373:N1259K;ENSP00000380741:N1258K;ENSP00000380735:N1255K;ENSP00000440515:N1255K;ENSP00000438164:N1665K;ENSP00000417093:N1258K;ENSP00000380731:N1258K	.	N	-	3	2	PTPRD	8331221	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.147000	0.58078	1.107000	0.41642	0.533000	0.62120	AAT		0.388	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			C	8341221	A	C	8341221	3	2	813	1	0	0	0	0	1	0	0	0	12805	330	12	5	767	5	PTPRD	9	8341221	Missense_Mutation	SNP	A	TCGA-V9-A7HT-01A-11D-A33Q-10		8341221	132872210	37	48740											
PSIP1	11168	hgsc.bcm.edu	37	9	15474059	15474060	+	Frame_Shift_Ins	INS	-	-	C			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr9:15474059_15474060insC	ENST00000380733.4	-	9	1148_1149	c.805_806insG	c.(805-807)gttfs	p.V269fs	PSIP1_ENST00000380738.4_Frame_Shift_Ins_p.V269fs|PSIP1_ENST00000380716.4_Frame_Shift_Ins_p.V269fs|PSIP1_ENST00000397519.2_Frame_Shift_Ins_p.V269fs|PSIP1_ENST00000380715.1_Frame_Shift_Ins_p.V269fs			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	269					establishment of integrated proviral latency (GO:0075713)|mRNA 5'-splice site recognition (GO:0000395)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to heat (GO:0009408)|response to oxidative stress (GO:0006979)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription coactivator activity (GO:0001105)|supercoiled DNA binding (GO:0097100)			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		GGTTGAAGTAACCCCTGTTTTA	0.351																																																0																																										SO:0001589	frameshift_variant	11168			AF098482	CCDS6479.1, CCDS6480.1	9p22.2	2008-02-05	2004-02-24		ENSG00000164985	ENSG00000164985			9527	protein-coding gene	gene with protein product		603620	"PC4 and SFRS1 interacting protein 2"	PSIP2		9822615, 9885563	Standard	NM_033222		Approved	p52, LEDGF, p75	uc003zlw.4	O75475	OTTHUMG00000021021	ENST00000380733.4:c.806dupG	chr9.hg19:g.15474063_15474063dupC	ENSP00000370109:p.Val269fs		D3DRI9|O00256|O95368|Q6P391|Q86YB9|Q9NZI3|Q9UER6	Frame_Shift_Ins	INS	ENST00000380733.4	hg19	CCDS6479.1																																																																																				0.351	PSIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055445.1	NM_033222		C	15474060	-	C	15474059	7	5	813	1	0	1	1	0	0	0	0	0	12668	43	2	0	847	0	PSIP1	9	15474059	Frame_Shift_Ins	INS	-	TCGA-V9-A7HT-01A-11D-A33Q-10	7132838	15474059	125739372	38	48741											
ZNF782	158431	hgsc.bcm.edu	37	9	99581195	99581195	+	Silent	SNP	T	T	C			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr9:99581195T>C	ENST00000481138.1	-	6	1771	c.1110A>G	c.(1108-1110)gaA>gaG	p.E370E	ZNF782_ENST00000466833.1_5'Flank|ZNF782_ENST00000535338.1_Silent_p.E238E	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	370					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(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				ATTTCCCACATTCATTATACT	0.433																																																0													154	148	150					9																	99581195		2203	4300	6503	SO:0001819	synonymous_variant	158431			AK131468	CCDS35075.1	9q22.33	2013-01-08			ENSG00000196597	ENSG00000196597		"Zinc fingers, C2H2-type", "-"	33110	protein-coding gene	gene with protein product							Standard	NM_001001662		Approved	FLJ16636	uc004awp.1	Q6ZMW2	OTTHUMG00000020310	ENST00000481138.1:c.1110A>G	chr9.hg19:g.99581195T>C			B2RNR0	Silent	SNP	ENST00000481138.1	hg19	CCDS35075.1	.	.	.	.	.	.	.	.	.	.	T	5.011	0.187743	0.09547	.	.	ENSG00000196597	ENST00000289032	.	.	.	3.18	0.829	0.18847	.	.	.	.	.	T	0.52354	0.1729	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39354	-0.9618	4	.	.	.	.	6.3014	0.21115	0.0:0.2311:0.0:0.7689	.	.	.	.	V	359	.	.	M	-	1	0	ZNF782	98621016	0.000000	0.05858	0.022000	0.16811	0.206000	0.24218	-1.332000	0.02670	0.154000	0.19237	-0.250000	0.11733	ATG		0.433	ZNF782-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356810.1	NM_001001662		C	99581195	T	C	99581195	2	2	813	1	0	0	0	0	0	0	0	1	18160	1490	52	3		3	ZNF782	9	99581195	Silent	SNP	T	TCGA-V9-A7HT-01A-11D-A33Q-10	84107136	99581195	41632236	39	48742											
C10orf18	54906	hgsc.bcm.edu	37	10	5788734	5788734	+	Missense_Mutation	SNP	G	G	T			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr10:5788734G>T	ENST00000328090.5	+	15	3975	c.3350G>T	c.(3349-3351)gGa>gTa	p.G1117V	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	1117																	GTAGTTGCAGGACAGAAGGGC	0.498																																																0													121	117	119					10																	5788734		1998	4180	6178	SO:0001583	missense	54906			BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 18"	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.3350G>T	chr10.hg19:g.5788734G>T	ENSP00000328426:p.Gly1117Val		Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	ENST00000328090.5	hg19	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	G	8.684	0.905742	0.17760	.	.	ENSG00000108021	ENST00000328090	T	0.04551	3.6	5.68	-2.81	0.05805	.	1.074830	0.07161	N	0.850789	T	0.04407	0.0121	L	0.46157	1.445	0.09310	N	1	B	0.25667	0.131	B	0.21546	0.035	T	0.46582	-0.9181	10	0.59425	D	0.04	.	2.0015	0.03468	0.4653:0.132:0.2681:0.1346	.	1117	Q5VWN6	F208B_HUMAN	V	1117	ENSP00000328426:G1117V	ENSP00000328426:G1117V	G	+	2	0	C10orf18	5828740	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	-0.207000	0.09384	-0.015000	0.14150	0.591000	0.81541	GGA		0.498	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		T	5788734	G	T	5788734	3	4	813	1	0	0	0	0	1	0	0	0	1598	1174	41	4	3396	4	C10orf18	10	5788734	Missense_Mutation	SNP	G	TCGA-V9-A7HT-01A-11D-A33Q-10		5788734	129746013	40	48743											
BAMBI	25805	hgsc.bcm.edu	37	10	28970452	28970452	+	Silent	SNP	T	T	C			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr10:28970452T>C	ENST00000375533.3	+	2	898	c.342T>C	c.(340-342)tcT>tcC	p.S114S		NM_012342.2	NP_036474.1	Q13145	BAMBI_HUMAN	BMP and activin membrane-bound inhibitor	114					cell migration (GO:0016477)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell shape (GO:0008360)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|type II transforming growth factor beta receptor binding (GO:0005114)			central_nervous_system(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	17						ATGTTCTCTCTCCTCCCAGGG	0.517																																																0													85	93	90					10																	28970452		2203	4300	6503	SO:0001819	synonymous_variant	25805			U23070	CCDS7162.1	10p12.3-p11.2	2013-07-23	2013-07-23		ENSG00000095739	ENSG00000095739			30251	protein-coding gene	gene with protein product		604444	"BMP and activin membrane-bound inhibitor homolog (Xenopus laevis)"			8621228, 19758997	Standard	NM_012342		Approved	NMA	uc001iuj.1	Q13145	OTTHUMG00000017874	ENST00000375533.3:c.342T>C	chr10.hg19:g.28970452T>C				Silent	SNP	ENST00000375533.3	hg19	CCDS7162.1																																																																																				0.517	BAMBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047374.1	NM_012342		C	28970452	T	C	28970452	2	2	813	1	0	0	0	0	0	0	0	1	1306	1538	54	3		3	BAMBI	10	28970452	Silent	SNP	T	TCGA-V9-A7HT-01A-11D-A33Q-10	23181718	28970452	106564295	41	48744											
CWF19L1	55280	hgsc.bcm.edu	37	10	101996700	101996700	+	Silent	SNP	A	A	C			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr10:101996700A>C	ENST00000354105.4	-	12	1367	c.1281T>G	c.(1279-1281)tcT>tcG	p.S427S	CWF19L1_ENST00000478047.1_5'UTR|SNORA12_ENST00000391162.1_RNA|CWF19L1_ENST00000370379.1_Intron|RP11-316M21.6_ENST00000444359.1_RNA	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control (S. pombe)	427							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)		CATCAGTAGTAGAGCAGCTGA	0.507																																																0													164	158	160					10																	101996700		2203	4300	6503	SO:0001819	synonymous_variant	55280			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.1281T>G	chr10.hg19:g.101996700A>C			B4DHX1|D3DR66|Q5W0I3|Q96HC3|Q9H865|Q9NV13	Silent	SNP	ENST00000354105.4	hg19	CCDS7489.1																																																																																				0.507	CWF19L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018294		C	101996700	A	C	101996700	2	2	813	1	0	0	0	0	0	0	0	1	4073	407	15	5		5	CWF19L1	10	101996700	Silent	SNP	A	TCGA-V9-A7HT-01A-11D-A33Q-10	73026248	101996700	33538047	42	48745											
OR52R1	119695	hgsc.bcm.edu	37	11	4825301	4825301	+	Missense_Mutation	SNP	C	C	A			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr11:4825301C>A	ENST00000356069.2	-	1	309	c.310G>T	c.(310-312)Gtg>Ttg	p.V104L	MMP26_ENST00000477339.1_Intron|OR52R1_ENST00000380382.1_Missense_Mutation_p.V183L|MMP26_ENST00000380390.1_Intron	NM_001005177.3	NP_001005177.3	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	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)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGAAGAACACCTGGATGAGG	0.522																																																0													154	139	144					11																	4825301		2201	4298	6499	SO:0001583	missense	119695			BK004282	CCDS31360.1, CCDS31360.2	11p15.4	2012-08-09			ENSG00000176937	ENSG00000176937		"GPCR / Class A : Olfactory receptors"	15235	protein-coding gene	gene with protein product							Standard	NM_001005177		Approved		uc021qcs.1	Q8NGF1	OTTHUMG00000066510	ENST00000356069.2:c.310G>T	chr11.hg19:g.4825301C>A	ENSP00000348368:p.Val104Leu		Q6IFI0	Missense_Mutation	SNP	ENST00000356069.2	hg19	CCDS31360.2	.	.	.	.	.	.	.	.	.	.	C	12.99	2.102095	0.37048	.	.	ENSG00000176937	ENST00000356069;ENST00000380382	T;T	0.00381	7.63;7.63	5.42	2.48	0.30137	GPCR, rhodopsin-like superfamily (1);	0.340919	0.20955	N	0.082663	T	0.00144	0.0004	N	0.02391	-0.57	0.24499	N	0.994261	B	0.11235	0.004	B	0.12837	0.008	T	0.42032	-0.9475	10	0.72032	D	0.01	.	3.7756	0.08659	0.2976:0.4713:0.0:0.231	.	104	Q8NGF1	O52R1_HUMAN	L	104;183	ENSP00000348368:V104L;ENSP00000369742:V183L	ENSP00000348368:V104L	V	-	1	0	OR52R1	4781877	0.871000	0.30034	1.000000	0.80357	0.974000	0.67602	-0.059000	0.11731	0.848000	0.35191	0.650000	0.86243	GTG		0.522	OR52R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142183.1	NM_001005177		A	4825301	C	A	4825301	3	1	813	1	0	0	0	0	1	0	0	0	11133	507	18	4	640	4	OR52R1	11	4825301	Missense_Mutation	SNP	C	TCGA-V9-A7HT-01A-11D-A33Q-10		4825301	130181215	43	48746											
ARHGAP32	9743	hgsc.bcm.edu	37	11	128844881	128844883	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	GAA	GAA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr11:128844881_128844883delGAA	ENST00000310343.9	-	20	2166_2168	c.2167_2169delTTC	c.(2167-2169)ttcdel	p.F723del	ARHGAP32_ENST00000524655.1_In_Frame_Del_p.F649del|ARHGAP32_ENST00000392657.3_In_Frame_Del_p.F374del|ARHGAP32_ENST00000527272.1_In_Frame_Del_p.F374del	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	723					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						TTCTGGGTCGGAAGAGCTTAGAA	0.443																																																0																																										SO:0001651	inframe_deletion	9743			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.2167_2169delTTC	chr11.hg19:g.128844881_128844883delGAA	ENSP00000310561:p.Phe723del		I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	In_Frame_Del	DEL	ENST00000310343.9	hg19	CCDS44769.1																																																																																				0.443	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		-	128844883	GAA	-	128844881	7	5	813	1	0	1	0	1	0	0	0	0	881	1165	41	0	4106	0	ARHGAP32	11	128844881	In_Frame_Del	DEL	GAA	TCGA-V9-A7HT-01A-11D-A33Q-10	124019580	128844881	6161635	44	48747											
EFCAB4B	84766	hgsc.bcm.edu	37	12	3747327	3747327	+	Missense_Mutation	SNP	G	G	A			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr12:3747327G>A	ENST00000440314.2	-	14	2038	c.1565C>T	c.(1564-1566)cCc>cTc	p.P522L		NM_001144958.1	NP_001138430.1	Q9BSW2	EFC4B_HUMAN		0					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)			CTGCCCTCGGGGGGATGTGGG	0.547																																																0													7	9	8					12																	3747327		690	1588	2278	SO:0001583	missense	84766																														ENST00000440314.2:c.1565C>T	chr12.hg19:g.3747327G>A	ENSP00000409382:p.Pro522Leu		B4E1X0|B9EK63	Missense_Mutation	SNP	ENST00000440314.2	hg19	CCDS44803.1	.	.	.	.	.	.	.	.	.	.	G	12.53	1.964657	0.34659	.	.	ENSG00000130038	ENST00000440314	T	0.62639	0.01	4.72	4.72	0.59763	.	.	.	.	.	T	0.56001	0.1956	.	.	.	0.80722	D	1	B	0.22346	0.068	B	0.19148	0.024	T	0.58301	-0.7660	8	0.87932	D	0	.	15.2134	0.73244	0.0:0.0:1.0:0.0	.	522	Q9BSW2-2	.	L	522	ENSP00000409382:P522L	ENSP00000409382:P522L	P	-	2	0	EFCAB4B	3617588	1.000000	0.71417	0.993000	0.49108	0.208000	0.24298	3.966000	0.56795	2.424000	0.82194	0.557000	0.71058	CCC		0.547	EFCAB4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398640.2			A	3747327	G	A	3747327	3	1	813	1	0	0	0	0	1	0	0	0	4939	1232	43	2	658	2	EFCAB4B	12	3747327	Missense_Mutation	SNP	G	TCGA-V9-A7HT-01A-11D-A33Q-10		3747327	130104568	45	48748											
C12orf41	54934	hgsc.bcm.edu	37	12	49062931	49062931	+	Missense_Mutation	SNP	C	C	A			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr12:49062931C>A	ENST00000420613.2	-	6	881	c.834G>T	c.(832-834)ttG>ttT	p.L278F	KANSL2_ENST00000553086.1_Missense_Mutation_p.L278F|SNORA2B_ENST00000384583.1_RNA|KANSL2_ENST00000357861.3_Missense_Mutation_p.L83F|KANSL2_ENST00000550347.1_Missense_Mutation_p.L461F	NM_017822.3	NP_060292.3	Q9H9L4	KANL2_HUMAN	KAT8 regulatory NSL complex subunit 2	278					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)|nucleoplasm (GO:0005654)											TCCGTTCCTTCAACTGCCTAT	0.428																																																0													53	53	53					12																	49062931		1944	4082	6026	SO:0001583	missense	54934			AK094528	CCDS44869.1	12q13.11	2011-10-31	2011-10-31	2011-10-31	ENSG00000139620	ENSG00000139620			26024	protein-coding gene	gene with protein product		615488	"chromosome 12 open reading frame 41"	C12orf41		12477932	Standard	NM_017822		Approved	FLJ20436, NSL2	uc001rrz.2	Q9H9L4	OTTHUMG00000170392	ENST00000420613.2:c.834G>T	chr12.hg19:g.49062931C>A	ENSP00000415436:p.Leu278Phe		Q8N3B5|Q96CV0|Q9NX51	Missense_Mutation	SNP	ENST00000420613.2	hg19	CCDS44869.1	.	.	.	.	.	.	.	.	.	.	C	13.12	2.141053	0.37825	.	.	ENSG00000139620	ENST00000550347;ENST00000420613;ENST00000547087;ENST00000553086;ENST00000357861	T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89	5.95	1.65	0.23941	.	0.142489	0.47093	D	0.000254	T	0.32793	0.0841	L	0.55743	1.74	0.45837	D	0.998708	P;B;P	0.41102	0.738;0.101;0.587	B;B;B	0.37267	0.233;0.039;0.245	T	0.06716	-1.0811	10	0.26408	T	0.33	-8.2093	9.9462	0.41611	0.0:0.6755:0.0:0.3245	.	461;278;83	F8VX10;Q9H9L4;Q9H9L4-2	.;CL041_HUMAN;.	F	461;278;26;278;83	ENSP00000449747:L461F;ENSP00000415436:L278F;ENSP00000447608:L26F;ENSP00000448833:L278F;ENSP00000350527:L83F	ENSP00000350527:L83F	L	-	3	2	C12orf41	47349198	0.998000	0.40836	1.000000	0.80357	0.976000	0.68499	0.558000	0.23469	0.432000	0.26286	-0.136000	0.14681	TTG		0.428	KANSL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408841.1	NM_017822		A	49062931	C	A	49062931	3	1	813	1	0	0	0	0	1	0	0	0	1689	825	29	4	664	4	C12orf41	12	49062931	Missense_Mutation	SNP	C	TCGA-V9-A7HT-01A-11D-A33Q-10	45315604	49062931	84788964	46	48749											
PRMT5	10419	hgsc.bcm.edu	37	14	23393691	23393691	+	Missense_Mutation	SNP	A	A	T			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr14:23393691A>T	ENST00000324366.8	-	10	1296	c.1073T>A	c.(1072-1074)gTc>gAc	p.V358D	PRMT5-AS1_ENST00000587245.2_RNA|PRMT5_ENST00000538452.1_Missense_Mutation_p.V252D|PRMT5_ENST00000553897.1_Missense_Mutation_p.V314D|PRMT5_ENST00000216350.8_Missense_Mutation_p.V297D|PRMT5_ENST00000397441.2_Missense_Mutation_p.V341D|PRMT5_ENST00000553641.1_5'Flank|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5-AS1_ENST00000609885.1_RNA|PRMT5-AS1_ENST00000599580.2_RNA|PRMT5-AS1_ENST00000424245.2_RNA|PRMT5-AS1_ENST00000457443.2_RNA|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5_ENST00000397440.4_Missense_Mutation_p.V187D	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	358	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				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)		CACTCACTGGACATTGGTATC	0.473																																																0													175	169	171					14																	23393691		2203	4300	6503	SO:0001583	missense	10419			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.1073T>A	chr14.hg19:g.23393691A>T	ENSP00000319169:p.Val358Asp		A8MTP3|A8MZ91|B4DX49|B4DY30|B5BU10|D3DS33|E2QRE7|Q6IBR1|Q9UKH1	Missense_Mutation	SNP	ENST00000324366.8	hg19	CCDS9579.1	.	.	.	.	.	.	.	.	.	.	A	16.44	3.125303	0.56721	.	.	ENSG00000100462	ENST00000324366;ENST00000397441;ENST00000397440;ENST00000216350;ENST00000538452;ENST00000553897;ENST00000553502;ENST00000555530	T;T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26;2.26	5.36	5.36	0.76844	.	0.295026	0.37304	N	0.002160	T	0.16642	0.0400	L	0.45137	1.4	0.80722	D	1	B;B;B;B;B	0.30727	0.265;0.292;0.131;0.229;0.091	B;B;B;B;B	0.34242	0.142;0.178;0.091;0.079;0.094	T	0.05115	-1.0905	10	0.12103	T	0.63	.	14.4831	0.67597	1.0:0.0:0.0:0.0	.	314;297;187;358;341	G3V5W5;B4DX49;A8MTP3;O14744;A8MZ91	.;.;.;ANM5_HUMAN;.	D	358;341;187;297;252;314;101;253	ENSP00000319169:V358D;ENSP00000380583:V341D;ENSP00000380582:V187D;ENSP00000216350:V297D;ENSP00000444915:V252D;ENSP00000452555:V314D	ENSP00000216350:V297D	V	-	2	0	PRMT5	22463531	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.587000	0.82613	2.254000	0.74563	0.459000	0.35465	GTC		0.473	PRMT5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071674.3			T	23393691	A	T	23393691	3	4	813	1	0	0	0	0	1	0	0	0	12544	275	10	5	872	5	PRMT5	14	23393691	Missense_Mutation	SNP	A	TCGA-V9-A7HT-01A-11D-A33Q-10		23393691	83955849	47	48750											
NEO1	4756	hgsc.bcm.edu	37	15	73409078	73409079	+	Frame_Shift_Ins	INS	-	-	A			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr15:73409078_73409079insA	ENST00000339362.5	+	3	775_776	c.328_329insA	c.(328-330)tttfs	p.F110fs	NEO1_ENST00000261908.6_Frame_Shift_Ins_p.F110fs|NEO1_ENST00000560262.1_Frame_Shift_Ins_p.F110fs|NEO1_ENST00000558964.1_Frame_Shift_Ins_p.F110fs			Q92859	NEO1_HUMAN	neogenin 1	110	Ig-like C2-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						TGGATCTTTATTTATCAGCAAT	0.376																																																0																																										SO:0001589	frameshift_variant	4756			U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7754	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 2"	601907	"neogenin (chicken) homolog 1"			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	Exception_encountered	chr15.hg19:g.73409078_73409079insA	ENSP00000341198:p.Phe110fs		B7ZKM9|B7ZKN0|O00340|Q17RX1	Frame_Shift_Ins	INS	ENST00000339362.5	hg19	CCDS10247.1																																																																																				0.376	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	NM_002499		A	73409079	-	A	73409078	7	5	813	1	0	1	1	0	0	0	0	0	10338	1493	52	0	334	0	NEO1	15	73409078	Frame_Shift_Ins	INS	-	TCGA-V9-A7HT-01A-11D-A33Q-10		73409078	29122314	48	48751											
CRTC3	64784	hgsc.bcm.edu	37	15	91172533	91172533	+	Silent	SNP	C	C	T			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr15:91172533C>T	ENST00000268184.6	+	11	1039	c.1035C>T	c.(1033-1035)tcC>tcT	p.S345S	RP11-387D10.2_ENST00000559531.1_RNA|CRTC3_ENST00000420329.2_Silent_p.S345S			Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	345					energy homeostasis (GO:0097009)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of lipid catabolic process (GO:0050995)|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)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)		CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			TTTCCTCTTCCTTAAATAACC	0.473			T	MAML2	salivary gland mucoepidermoid																																		Dom	yes		15	15q26.1	64784	CREB regulated transcription coactivator 3		E	0													180	176	178					15																	91172533		2198	4298	6496	SO:0001819	synonymous_variant	64784				CCDS32331.1, CCDS45348.1	15q26.1	2005-11-24				ENSG00000140577			26148	protein-coding gene	gene with protein product		608986				14536081, 14506290	Standard	NM_022769		Approved	FLJ21868	uc002bpp.4	Q6UUV7		ENST00000268184.6:c.1035C>T	chr15.hg19:g.91172533C>T			Q6DK61|Q6DK62|Q8NF38|Q9H6U2	Silent	SNP	ENST00000268184.6	hg19	CCDS32331.1																																																																																				0.473	CRTC3-001	KNOWN	NAGNAG_splice_site|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417716.2	NM_022769		T	91172533	C	T	91172533	2	4	813	1	0	0	0	0	0	0	0	1	3903	668	24	2		2	CRTC3	15	91172533	Silent	SNP	C	TCGA-V9-A7HT-01A-11D-A33Q-10	17763455	91172533	11358859	49	48752											
PDXDC1	23042	hgsc.bcm.edu	37	16	15129917	15129917	+	Missense_Mutation	SNP	A	A	G			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr16:15129917A>G	ENST00000396410.4	+	23	2249	c.2152A>G	c.(2152-2154)Agt>Ggt	p.S718G	PDXDC1_ENST00000535621.2_Intron|PDXDC1_ENST00000563679.1_Missense_Mutation_p.S736G|PDXDC1_ENST00000325823.7_Missense_Mutation_p.S703G|PDXDC1_ENST00000569715.1_Missense_Mutation_p.S691G|PDXDC1_ENST00000450288.2_Missense_Mutation_p.S690G|PDXDC1_ENST00000447912.2_Missense_Mutation_p.S627G	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	718					carboxylic acid metabolic process (GO:0019752)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGATGCTTTGAGTGAGACCAG	0.537																																																0													145	139	141					16																	15129917		2197	4300	6497	SO:0001583	missense	23042			AK025504, BX647809	CCDS32393.1, CCDS66954.1, CCDS66957.1, CCDS73830.1, CCDS73831.1	16p13.11	2008-02-05							28995	protein-coding gene	gene with protein product		614244					Standard	XM_005255173		Approved	KIAA0251	uc002dda.4	Q6P996	OTTHUMG00000166304	ENST00000396410.4:c.2152A>G	chr16.hg19:g.15129917A>G	ENSP00000379691:p.Ser718Gly		B4DR55|B4DSL3|E7EMH5|E7EPL4|H3BNZ1|O00236|Q4F6X7|Q6PID7|Q86YF1|Q8N4Q9|Q8TBS5	Missense_Mutation	SNP	ENST00000396410.4	hg19	CCDS32393.1	.	.	.	.	.	.	.	.	.	.	A	17.18	3.324586	0.60634	.	.	ENSG00000179889	ENST00000325823;ENST00000447912;ENST00000396410;ENST00000450288	T;T;T;T	0.34859	1.35;1.91;1.34;1.38	5.91	4.82	0.62117	.	0.038008	0.85682	D	0.000000	T	0.27349	0.0671	L	0.29908	0.895	0.58432	D	0.999998	B;B;B;B	0.19073	0.025;0.033;0.025;0.012	B;B;B;B	0.20184	0.022;0.028;0.022;0.016	T	0.07770	-1.0755	10	0.54805	T	0.06	-17.3828	10.7095	0.45975	0.9265:0.0:0.0735:0.0	.	690;627;690;718	E7EPL4;E7EMH5;B4DR55;Q6P996	.;.;.;PDXD1_HUMAN	G	703;627;718;690	ENSP00000322807:S703G;ENSP00000400310:S627G;ENSP00000379691:S718G;ENSP00000391147:S690G	ENSP00000322807:S703G	S	+	1	0	PDXDC1	15037418	1.000000	0.71417	0.945000	0.38365	0.998000	0.95712	6.045000	0.71020	2.254000	0.74563	0.533000	0.62120	AGT		0.537	PDXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389065.2	NM_015027		G	15129917	A	G	15129917	3	3	813	1	0	0	0	0	1	0	0	0	11698	304	11	3	2242	3	PDXDC1	16	15129917	Missense_Mutation	SNP	A	TCGA-V9-A7HT-01A-11D-A33Q-10		15129917	75224836	50	48753											
DPEP3	64180	hgsc.bcm.edu	37	16	68012250	68012250	+	Missense_Mutation	SNP	G	G	C	rs553819810		TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr16:68012250G>C	ENST00000268793.4	-	4	1054	c.681C>G	c.(679-681)gaC>gaG	p.D227E	DPEP3_ENST00000574342.1_5'Flank	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	202					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)		AGAGGCTGCTGTCCAGTGAGT	0.552																																																0													79	76	77					16																	68012250		2198	4300	6498	SO:0001583	missense	64180			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.681C>G	chr16.hg19:g.68012250G>C	ENSP00000268793:p.Asp227Glu		B3KQ48|Q6PEZ5|Q6UXE4	Missense_Mutation	SNP	ENST00000268793.4	hg19	CCDS10856.1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.829864	0.32329	.	.	ENSG00000141096	ENST00000268793	T	0.19938	2.11	4.7	1.1	0.20463	.	0.050722	0.85682	D	0.000000	T	0.14917	0.0360	L	0.39397	1.21	0.42993	D	0.994498	B	0.33777	0.425	B	0.31101	0.124	T	0.07462	-1.0771	10	0.48119	T	0.1	.	9.1289	0.36833	0.3032:0.0:0.6968:0.0	.	202	Q9H4B8	DPEP3_HUMAN	E	227	ENSP00000268793:D227E	ENSP00000268793:D227E	D	-	3	2	DPEP3	66569751	1.000000	0.71417	1.000000	0.80357	0.435000	0.31806	5.324000	0.65863	0.420000	0.25954	0.561000	0.74099	GAC		0.552	DPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268875.3	NM_022357		C	68012250	G	C	68012250	3	2	813	1	0	0	0	0	1	0	0	0	4717	1368	48	4	888	4	DPEP3	16	68012250	Missense_Mutation	SNP	G	TCGA-V9-A7HT-01A-11D-A33Q-10	52882333	68012250	22342503	51	48754											
PRMT7	54496	hgsc.bcm.edu	37	16	68373404	68373404	+	Missense_Mutation	SNP	T	T	G			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr16:68373404T>G	ENST00000339507.5	+	8	1514	c.684T>G	c.(682-684)atT>atG	p.I228M	PRMT7_ENST00000348497.4_Missense_Mutation_p.I154M|PRMT7_ENST00000441236.1_Missense_Mutation_p.I178M|PRMT7_ENST00000449359.3_Missense_Mutation_p.I178M|PRMT7_ENST00000564441.1_3'UTR			Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	228	SAM-dependent MTase PRMT-type 1. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|histone arginine methylation (GO:0034969)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	[myelin basic protein]-arginine N-methyltransferase activity (GO:0016277)|histone binding (GO:0042393)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		TCTGTGACATTCAGCTGAACC	0.582																																																0													98	76	83					16																	68373404		2198	4300	6498	SO:0001583	missense	54496			AK001502	CCDS10866.1, CCDS54033.1	16q22.1	2008-02-05			ENSG00000132600	ENSG00000132600		"Protein arginine methyltransferases"	25557	protein-coding gene	gene with protein product		610087				15044439	Standard	NM_001184824		Approved	FLJ10640, KIAA1933	uc002evy.2	Q9NVM4	OTTHUMG00000137556	ENST00000339507.5:c.684T>G	chr16.hg19:g.68373404T>G	ENSP00000343103:p.Ile228Met		B3KPR0|B3KUG9|B4E379|Q96PV5|Q9H9L0	Missense_Mutation	SNP	ENST00000339507.5	hg19	CCDS10866.1	.	.	.	.	.	.	.	.	.	.	T	17.98	3.520487	0.64747	.	.	ENSG00000132600	ENST00000449359;ENST00000441236;ENST00000348497;ENST00000339507	T;T	0.78481	-1.18;0.84	5.51	1.98	0.26296	.	0.087357	0.85682	D	0.000000	T	0.77624	0.4158	L	0.41906	1.305	0.51767	D	0.999933	D;D;P;D	0.76494	0.998;0.996;0.901;0.999	D;D;B;D	0.76575	0.963;0.988;0.387;0.984	T	0.71902	-0.4452	10	0.38643	T	0.18	-9.242	3.2342	0.06758	0.2932:0.163:0.0:0.5438	.	178;154;228;228	Q9NVM4-3;Q9NVM4-2;Q9NVM4;Q9NVM4-4	.;.;ANM7_HUMAN;.	M	178;178;154;228	ENSP00000345775:I154M;ENSP00000343103:I228M	ENSP00000343103:I228M	I	+	3	3	PRMT7	66930905	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.000000	0.29770	0.113000	0.18004	0.533000	0.62120	ATT		0.582	PRMT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268892.3	NM_019023		G	68373404	T	G	68373404	3	3	813	1	0	0	0	0	1	0	0	0	12546	1771	62	5	706	5	PRMT7	16	68373404	Missense_Mutation	SNP	T	TCGA-V9-A7HT-01A-11D-A33Q-10	361154	68373404	21981349	52	48755											
CDH3	1001	hgsc.bcm.edu	37	16	68716217	68716217	+	Missense_Mutation	SNP	G	G	T			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr16:68716217G>T	ENST00000264012.4	+	9	1553	c.1009G>T	c.(1009-1011)Gtg>Ttg	p.V337L	CDH3_ENST00000581171.1_Missense_Mutation_p.V282L|CDH3_ENST00000429102.2_Missense_Mutation_p.V337L	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	337	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)		CGAGGCCCATGTGCCTGAGAA	0.577																																																2	Unknown(2)	breast(2)											75	54	61					16																	68716217		2198	4300	6498	SO:0001583	missense	1001			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.1009G>T	chr16.hg19:g.68716217G>T	ENSP00000264012:p.Val337Leu		B2R6F4|Q05DI6	Missense_Mutation	SNP	ENST00000264012.4	hg19	CCDS10868.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.509463	0.85282	.	.	ENSG00000062038	ENST00000429102;ENST00000264012;ENST00000542274	T;T	0.55234	0.53;0.53	5.56	5.56	0.83823	Cadherin (4);Cadherin-like (1);	0.000000	0.37483	N	0.002065	T	0.72463	0.3463	M	0.71581	2.175	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.75007	-0.3469	10	0.87932	D	0	.	17.0347	0.86471	0.0:0.0:1.0:0.0	.	337	P22223	CADH3_HUMAN	L	337;337;282	ENSP00000398485:V337L;ENSP00000264012:V337L	ENSP00000264012:V337L	V	+	1	0	CDH3	67273718	1.000000	0.71417	0.951000	0.38953	0.562000	0.35680	7.361000	0.79497	2.614000	0.88457	0.561000	0.74099	GTG		0.577	CDH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268896.2	NM_001793		T	68716217	G	T	68716217	3	4	813	1	0	0	0	0	1	0	0	0	3113	1377	48	4	1043	4	CDH3	16	68716217	Missense_Mutation	SNP	G	TCGA-V9-A7HT-01A-11D-A33Q-10	342813	68716217	21638536	53	48756											
ZNRF1	84937	hgsc.bcm.edu	37	16	75127548	75127548	+	Missense_Mutation	SNP	C	C	G			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr16:75127548C>G	ENST00000335325.4	+	2	1145	c.503C>G	c.(502-504)cCt>cGt	p.P168R	ZNRF1_ENST00000564320.1_3'UTR|ZNRF1_ENST00000566250.1_Missense_Mutation_p.P168R|ZNRF1_ENST00000320619.6_Missense_Mutation_p.P168R|ZNRF1_ENST00000567962.1_Missense_Mutation_p.P168R	NM_032268.4	NP_115644.1	Q8ND25	ZNRF1_HUMAN	zinc and ring finger 1, E3 ubiquitin protein ligase	168					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						TTGAGCAAACCTCGCCTCTCC	0.557																																																0													136	118	124					16																	75127548		2198	4300	6498	SO:0001583	missense	84937			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.503C>G	chr16.hg19:g.75127548C>G	ENSP00000335091:p.Pro168Arg		D3DUJ9|Q9H083	Missense_Mutation	SNP	ENST00000335325.4	hg19	CCDS10912.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.834662	0.91036	.	.	ENSG00000186187	ENST00000320619;ENST00000335325	T	0.52057	0.68	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.70395	0.3219	M	0.70595	2.14	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.998	D;D;D	0.91635	0.994;0.999;0.987	T	0.71573	-0.4552	10	0.72032	D	0.01	-0.0544	19.9542	0.97213	0.0:1.0:0.0:0.0	.	168;168;168	B4DG67;Q8ND25-2;Q8ND25	.;.;ZNRF1_HUMAN	R	168	ENSP00000335091:P168R	ENSP00000323362:P168R	P	+	2	0	ZNRF1	73685049	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.414000	0.80117	2.728000	0.93425	0.650000	0.86243	CCT		0.557	ZNRF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269020.2			G	75127548	C	G	75127548	3	3	813	1	0	0	0	0	1	0	0	0	18216	681	24	4	509	4	ZNRF1	16	75127548	Missense_Mutation	SNP	C	TCGA-V9-A7HT-01A-11D-A33Q-10	6411331	75127548	15227205	54	48757											
FANCA	2175	hgsc.bcm.edu	37	16	89831438	89831439	+	In_Frame_Ins	INS	-	-	GGCCTCTGA	rs149435806	byFrequency	TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr16:89831438_89831439insGGCCTCTGA	ENST00000389301.3	-	28	2667_2668	c.2637_2638insTCAGAGGCC	c.(2635-2640)gcccga>gccTCAGAGGCCcga	p.878_879insASE	FANCA_ENST00000568369.1_In_Frame_Ins_p.878_879insASE	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	878					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		AGAGGCTGTCGGGCCTCTGAGA	0.535			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"Fanconi anemia, complementation group A"		L	0			GRCh37	CM080346	FANCA	M																																				SO:0001652	inframe_insertion	2175	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"Fanconi anemia, complementation groups"	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.2629_2637dupTCAGAGGCC	chr16.hg19:g.89831439_89831447dupGGCCTCTGA	ENSP00000373952:p.Glu878_Ala879insAlaSerGlu		A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	In_Frame_Ins	INS	ENST00000389301.3	hg19	CCDS32515.1																																																																																				0.535	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1			GGCCTCTGA	89831439	-	GGCCTCTGA	89831438	7	5	813	1	0	1	1	0	0	0	0	0	5664	1124	39	0	1793	0	FANCA	16	89831438	In_Frame_Ins	INS	-	TCGA-V9-A7HT-01A-11D-A33Q-10	14703890	89831438	523315	55	48758											
C17orf48	56985	hgsc.bcm.edu	37	17	10608320	10608320	+	Missense_Mutation	SNP	T	T	A			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr17:10608320T>A	ENST00000379774.4	+	2	168	c.77T>A	c.(76-78)gTt>gAt	p.V26D	ADPRM_ENST00000609540.1_Missense_Mutation_p.V26D	NM_020233.4	NP_064618.3	Q3LIE5	ADPRM_HUMAN	ADP-ribose/CDP-alcohol diphosphatase, manganese-dependent	26							ADP-ribose diphosphatase activity (GO:0047631)|CDP-glycerol diphosphatase activity (GO:0047734)|metal ion binding (GO:0046872)										ATCGCAGATGTTCAATTTGCA	0.438																																																0													148	144	145					17																	10608320		2203	4300	6503	SO:0001583	missense	56985			BC070155	CCDS11159.2	17p13.1	2012-07-20	2012-07-20	2012-07-20	ENSG00000170222	ENSG00000170222	3.6.1.13, 3.6.1.16, 3.6.1.53		30925	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 48"	C17orf48		18352857	Standard	XM_005256738		Approved	MDS006	uc002gmt.3	Q3LIE5	OTTHUMG00000130366	ENST00000379774.4:c.77T>A	chr17.hg19:g.10608320T>A	ENSP00000369099:p.Val26Asp		A8K9B4|D3DTS4|Q9BVD4|Q9NRU8	Missense_Mutation	SNP	ENST00000379774.4	hg19	CCDS11159.2	.	.	.	.	.	.	.	.	.	.	T	20.9	4.059631	0.76074	.	.	ENSG00000170222	ENST00000379774	D	0.94723	-3.5	5.38	5.38	0.77491	.	0.160556	0.53938	D	0.000044	D	0.96935	0.8999	M	0.78049	2.395	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	D	0.97458	1.0032	10	0.72032	D	0.01	-22.0576	15.22	0.73303	0.0:0.0:0.0:1.0	.	26	Q3LIE5	ADPRM_HUMAN	D	26	ENSP00000369099:V26D	ENSP00000369099:V26D	V	+	2	0	C17orf48	10549045	1.000000	0.71417	1.000000	0.80357	0.696000	0.40369	7.096000	0.76960	2.248000	0.74166	0.460000	0.39030	GTT		0.438	ADPRM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252732.2	NM_020233		A	10608320	T	A	10608320	3	1	813	1	0	0	0	0	1	0	0	0	1861	1725	60	5	79	5	C17orf48	17	10608320	Missense_Mutation	SNP	T	TCGA-V9-A7HT-01A-11D-A33Q-10		10608320	70586890	56	48759											
SPAG5	10615	hgsc.bcm.edu	37	17	26906801	26906801	+	Missense_Mutation	SNP	C	C	G	rs546549488		TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr17:26906801C>G	ENST00000321765.5	-	17	3184	c.2852G>C	c.(2851-2853)cGa>cCa	p.R951P	ALDOC_ENST00000226253.4_5'Flank|ALDOC_ENST00000395319.3_5'Flank|ALDOC_ENST00000395321.2_5'Flank	NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	951					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.R951L(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)					TGATGCTACTCGGGTGAAAGC	0.502																																																1	Substitution - Missense(1)	lung(1)											148	152	151					17																	26906801		2203	4300	6503	SO:0001583	missense	10615			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.2852G>C	chr17.hg19:g.26906801C>G	ENSP00000323300:p.Arg951Pro		O95213|Q9BWE8|Q9NT17|Q9UFE6	Missense_Mutation	SNP	ENST00000321765.5	hg19	CCDS32594.1	.	.	.	.	.	.	.	.	.	.	c	17.07	3.293952	0.60086	.	.	ENSG00000076382	ENST00000321765	T	0.32753	1.44	5.4	4.41	0.53225	.	0.148155	0.30365	N	0.009799	T	0.40956	0.1138	L	0.34521	1.04	0.34124	D	0.664436	D	0.89917	1.0	D	0.75484	0.986	T	0.50224	-0.8853	10	0.62326	D	0.03	-7.7226	10.1832	0.42982	0.0:0.9085:0.0:0.0915	.	951	Q96R06	SPAG5_HUMAN	P	951	ENSP00000323300:R951P	ENSP00000323300:R951P	R	-	2	0	SPAG5	23930928	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.368000	0.34216	2.817000	0.96982	0.645000	0.84053	CGA		0.502	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390564.2	NM_006461		G	26906801	C	G	26906801	3	3	813	1	0	0	0	0	1	0	0	0	14987	884	31	4	761	4	SPAG5	17	26906801	Missense_Mutation	SNP	C	TCGA-V9-A7HT-01A-11D-A33Q-10	16298481	26906801	54288409	57	48760											
ZNF830	91603	hgsc.bcm.edu	37	17	33289174	33289175	+	Missense_Mutation	DNP	TC	TC	AT			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	T|C	T|C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr17:33289174_33289175TC>AT	ENST00000361952.3	+	1	626_627	c.589_590TC>AT	c.(589-591)TCa>ATa	p.S197I	CCT6B_ENST00000436961.3_5'Flank|CCT6B_ENST00000421975.3_5'Flank|CCT6B_ENST00000314144.5_5'Flank	NM_052857.3	NP_443089.3	Q96NB3	ZN830_HUMAN	zinc finger protein 830	197					blastocyst growth (GO:0001832)|mitotic nuclear division (GO:0007067)|nuclear cell cycle DNA replication (GO:0033260)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|liver(2)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(249;0.17)				AGTTTCCTCTTCACGGGAGGTA	0.52																																																0																																										SO:0001583	missense	91603			AK055707	CCDS32618.1	17q12	2013-10-23	2008-03-25	2008-03-25	ENSG00000198783	ENSG00000198783			28291	protein-coding gene	gene with protein product	"orphan maintenance of genome 1"		"coiled-coil domain containing 16"	CCDC16		23066043	Standard	NM_052857		Approved	MGC20398, OMCG1	uc002hih.4	Q96NB3	OTTHUMG00000179771	Exception_encountered	chr17.hg19:g.33289174_33289175delinsAT	ENSP00000354518:p.Ser197Ile		Q96F60|Q96GZ5|Q9BU38	Missense_Mutation	SNP	ENST00000361952.3	hg19	CCDS32618.1																																																																																				0.52	ZNF830-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448018.1	NM_052857		AT	33289175	TC	AT	33289174	3	1	813	1	0	0	0	0	1	0	0	0	18189	1783	62	5	591	5	ZNF830	17	33289174	Missense_Mutation	DNP	TC	TCGA-V9-A7HT-01A-11D-A33Q-10	6382373	33289174	47906036	58	48761											
TNRC6C	57690	hgsc.bcm.edu	37	17	76045429	76045429	+	Missense_Mutation	SNP	A	A	G			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr17:76045429A>G	ENST00000588061.1	+	5	1013	c.286A>G	c.(286-288)Att>Gtt	p.I96V	TNRC6C_ENST00000544502.1_Missense_Mutation_p.I96V|TNRC6C_ENST00000588847.1_Missense_Mutation_p.I96V|TNRC6C_ENST00000541771.1_Missense_Mutation_p.I96V|TNRC6C_ENST00000335749.4_Missense_Mutation_p.I96V|TNRC6C_ENST00000301624.4_Missense_Mutation_p.I96V			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	96	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)			CAATGCTGGCATTAATCTTAA	0.507																																																0													51	55	53					17																	76045429		2032	4182	6214	SO:0001583	missense	57690			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.286A>G	chr17.hg19:g.76045429A>G	ENSP00000468647:p.Ile96Val		G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Missense_Mutation	SNP	ENST00000588061.1	hg19	CCDS45798.1	.	.	.	.	.	.	.	.	.	.	A	4.973	0.180743	0.09443	.	.	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	T;T;T;T	0.14144	2.53;2.54;2.54;2.53	5.15	5.15	0.70609	.	0.333646	0.33217	N	0.005144	T	0.13114	0.0318	L	0.42245	1.32	0.42692	D	0.993588	B;B;B	0.29988	0.225;0.264;0.144	B;B;B	0.31101	0.078;0.124;0.035	T	0.08493	-1.0719	10	0.12430	T	0.62	-4.1759	15.1447	0.72641	1.0:0.0:0.0:0.0	.	96;96;96	G3XAB8;Q9HCJ0-2;Q9HCJ0	.;.;TNR6C_HUMAN	V	96	ENSP00000336783:I96V;ENSP00000301624:I96V;ENSP00000440310:I96V;ENSP00000442421:I96V	ENSP00000301624:I96V	I	+	1	0	TNRC6C	73557024	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.359000	0.59449	2.159000	0.67721	0.533000	0.62120	ATT		0.507	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996		G	76045429	A	G	76045429	3	3	813	1	0	0	0	0	1	0	0	0	16347	217	8	3	288	3	TNRC6C	17	76045429	Missense_Mutation	SNP	A	TCGA-V9-A7HT-01A-11D-A33Q-10	42756255	76045429	5149781	59	48762											
NPC1	4864	hgsc.bcm.edu	37	18	21116701	21116701	+	Missense_Mutation	SNP	T	T	G			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr18:21116701T>G	ENST00000269228.5	-	21	3735	c.3181A>C	c.(3181-3183)Ata>Cta	p.I1061L	NPC1_ENST00000540608.1_5'Flank|NPC1_ENST00000412552.2_Missense_Mutation_p.I743L	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	1061			I -> T (in NPC1; late infantile form). {ECO:0000269|PubMed:10521290, ECO:0000269|PubMed:10521297, ECO:0000269|PubMed:11182931, ECO:0000269|PubMed:11333381, ECO:0000269|PubMed:11349231, ECO:0000269|PubMed:11479732, ECO:0000269|PubMed:11754101, ECO:0000269|PubMed:12401890, ECO:0000269|PubMed:16098014, ECO:0000269|PubMed:16126423}.		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)					TTACTGGCTATAAGTCGGGCT	0.522																																																0													109	94	99					18																	21116701		2203	4300	6503	SO:0001583	missense	4864			AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.3181A>C	chr18.hg19:g.21116701T>G	ENSP00000269228:p.Ile1061Leu		B4DET3|Q9P130	Missense_Mutation	SNP	ENST00000269228.5	hg19	CCDS11878.1	.	.	.	.	.	.	.	.	.	.	T	13.92	2.380899	0.42207	.	.	ENSG00000141458	ENST00000269228;ENST00000412552	D;D	0.88354	-2.37;-2.37	6.04	-6.49	0.01890	.	0.632759	0.17408	N	0.175275	T	0.78291	0.4260	L	0.31065	0.9	0.24200	N	0.995511	B;B	0.10296	0.001;0.003	B;B	0.17722	0.019;0.012	T	0.58160	-0.7685	10	0.31617	T	0.26	-6.4466	11.8648	0.52486	0.0:0.5076:0.0856:0.4068	.	1072;1061	Q59GR1;O15118	.;NPC1_HUMAN	L	1061;743	ENSP00000269228:I1061L;ENSP00000408606:I743L	ENSP00000269228:I1061L	I	-	1	0	NPC1	19370699	0.002000	0.14202	0.000000	0.03702	0.637000	0.38172	-0.050000	0.11904	-1.525000	0.01762	-0.375000	0.07067	ATA		0.522	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254823.2	NM_000271		G	21116701	T	G	21116701	3	3	813	1	0	0	0	0	1	0	0	0	10572	1406	49	5	675	5	NPC1	18	21116701	Missense_Mutation	SNP	T	TCGA-V9-A7HT-01A-11D-A33Q-10		21116701	56960547	60	48763											
ATP5A1	498	hgsc.bcm.edu	37	18	43666115	43666115	+	Missense_Mutation	SNP	C	C	T			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr18:43666115C>T	ENST00000398752.6	-	10	1514	c.1393G>A	c.(1393-1395)Gtg>Atg	p.V465M	ATP5A1_ENST00000590665.1_Missense_Mutation_p.V443M|ATP5A1_ENST00000593152.2_Missense_Mutation_p.V415M|ATP5A1_ENST00000282050.2_Missense_Mutation_p.V465M	NM_001001935.2|NM_004046.5	NP_001001935.1|NP_004037.1	P25705	ATPA_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle	465					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular metabolic process (GO:0044237)|embryo development (GO:0009790)|lipid metabolic process (GO:0006629)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|negative regulation of endothelial cell proliferation (GO:0001937)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting ATP synthase complex, catalytic core F(1) (GO:0045261)	ATP binding (GO:0005524)|MHC class I protein binding (GO:0042288)|poly(A) RNA binding (GO:0044822)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						GTTAGACGCACGCCACGACTC	0.478																																																0													87	76	80					18																	43666115		2203	4300	6503	SO:0001583	missense	498			D14710	CCDS11927.1, CCDS58620.1, CCDS59315.1	18q21	2012-10-12	2006-01-13		ENSG00000152234	ENSG00000152234	3.6.1.14	"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	823	protein-coding gene	gene with protein product		164360	"ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 2, non-cardiac muscle-like 2", "ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 1, cardiac muscle"	ATP5AL2, ATPM		1830491	Standard	NM_001257334		Approved	ATP5A, hATP1, OMR, ORM	uc002lbr.2	P25705	OTTHUMG00000132637	ENST00000398752.6:c.1393G>A	chr18.hg19:g.43666115C>T	ENSP00000381736:p.Val465Met		A8K092|B4DY56|K7ENP3|Q53XX6|Q8IXV2|Q96FB4|Q96HW2|Q96IR6|Q9BTV8	Missense_Mutation	SNP	ENST00000398752.6	hg19	CCDS11927.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.018806	0.75275	.	.	ENSG00000152234	ENST00000282050;ENST00000398752;ENST00000542290	T;T	0.76448	-1.02;-1.02	4.93	4.93	0.64822	ATPase, F1/V1/A1 complex, alpha/beta subunit, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.72053	0.3413	L	0.43757	1.38	0.80722	D	1	P	0.42757	0.789	B	0.37091	0.241	T	0.77629	-0.2516	10	0.72032	D	0.01	-13.5043	18.2285	0.89926	0.0:1.0:0.0:0.0	.	465	P25705	ATPA_HUMAN	M	465;465;415	ENSP00000282050:V465M;ENSP00000381736:V465M	ENSP00000282050:V465M	V	-	1	0	ATP5A1	41920113	1.000000	0.71417	0.999000	0.59377	0.965000	0.64279	7.693000	0.84214	2.304000	0.77564	0.650000	0.86243	GTG		0.478	ATP5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255884.1	NM_004046		T	43666115	C	T	43666115	3	4	813	1	0	0	0	0	1	0	0	0	1147	536	19	1	280	1	ATP5A1	18	43666115	Missense_Mutation	SNP	C	TCGA-V9-A7HT-01A-11D-A33Q-10	22549414	43666115	34411133	61	48764											
MUC16	94025	hgsc.bcm.edu	37	19	9086492	9086492	+	Missense_Mutation	SNP	T	T	C			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr19:9086492T>C	ENST00000397910.4	-	1	5526	c.5323A>G	c.(5323-5325)Aca>Gca	p.T1775A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1775	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						GTCATAACTGTGGTGACCTCC	0.488																																																0													124	116	119					19																	9086492		1965	4142	6107	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.5323A>G	chr19.hg19:g.9086492T>C	ENSP00000381008:p.Thr1775Ala		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	hg19	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	2.556	-0.303013	0.05495	.	.	ENSG00000181143	ENST00000397910	T	0.02301	4.35	1.32	-2.02	0.07388	.	.	.	.	.	T	0.01254	0.0041	N	0.08118	0	.	.	.	B	0.27594	0.182	B	0.23852	0.049	T	0.45041	-0.9288	8	0.87932	D	0	.	4.3299	0.11059	0.4077:0.0:0.0:0.5923	.	1775	B5ME49	.	A	1775	ENSP00000381008:T1775A	ENSP00000381008:T1775A	T	-	1	0	MUC16	8947492	0.000000	0.05858	0.000000	0.03702	0.092000	0.18411	-0.813000	0.04491	-0.764000	0.04651	0.254000	0.18369	ACA		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		C	9086492	T	C	9086492	3	2	813	1	0	0	0	0	1	0	0	0	9975	1696	59	3	38536	3	MUC16	19	9086492	Missense_Mutation	SNP	T	TCGA-V9-A7HT-01A-11D-A33Q-10		9086492	50042491	62	48765											
KIAA1683	80726	hgsc.bcm.edu	37	19	18377324	18377324	+	Silent	SNP	T	T	A			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr19:18377324T>A	ENST00000600328.3	-	3	1219	c.1026A>T	c.(1024-1026)acA>acT	p.T342T	KIAA1683_ENST00000600359.3_Silent_p.T296T|KIAA1683_ENST00000392413.4_Silent_p.T342T			Q9H0B3	K1683_HUMAN	KIAA1683	342	Thr-rich.					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						CCACTGGATATGTCTGGAGTA	0.552																																																0													68	63	65					19																	18377324		2203	4300	6503	SO:0001819	synonymous_variant	80726			AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.1026A>T	chr19.hg19:g.18377324T>A			B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Silent	SNP	ENST00000600328.3	hg19	CCDS32958.1																																																																																				0.552	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466312.3			A	18377324	T	A	18377324	2	1	813	1	0	0	0	0	0	0	0	1	8253	1451	51	5		5	KIAA1683	19	18377324	Silent	SNP	T	TCGA-V9-A7HT-01A-11D-A33Q-10	9290832	18377324	40751659	63	48766											
RASGRP4	115727	hgsc.bcm.edu	37	19	38910519	38910519	+	Missense_Mutation	SNP	C	C	G			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr19:38910519C>G	ENST00000587738.1	-	6	714	c.644G>C	c.(643-645)cGg>cCg	p.R215P	RASGRP4_ENST00000426920.2_Missense_Mutation_p.R215P|RASGRP4_ENST00000293062.9_Missense_Mutation_p.R215P|RASGRP4_ENST00000586305.1_Missense_Mutation_p.R201P|RASGRP4_ENST00000454404.2_Missense_Mutation_p.R215P|RASGRP4_ENST00000433821.2_Missense_Mutation_p.R215P|RASGRP4_ENST00000587753.1_Missense_Mutation_p.R215P			Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	215	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				activation of phospholipase C activity (GO:0007202)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|myeloid cell differentiation (GO:0030099)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to extracellular stimulus (GO:0009991)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|GTP-dependent protein binding (GO:0030742)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CTGGAAGGACCGGAACTCCAG	0.622																																																0													28	29	29					19																	38910519		1960	4144	6104	SO:0001583	missense	115727			AY048119	CCDS46068.1, CCDS54262.1, CCDS54263.1, CCDS54264.1	19q13.1	2013-01-10						"EF-hand domain containing"	18958	protein-coding gene	gene with protein product		607320				11956218	Standard	NM_170604		Approved		uc021uub.1	Q8TDF6		ENST00000587738.1:c.644G>C	chr19.hg19:g.38910519C>G	ENSP00000465772:p.Arg215Pro		A6H8M4|C0LTP2|C0LTP3|C0LTP4|C0LTP5|C0LTP7|C9J416|C9JHZ1|Q8N858|Q96QN5|Q96QN6|Q96QN7	Missense_Mutation	SNP	ENST00000587738.1	hg19	CCDS46068.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.809856	0.50421	.	.	ENSG00000171777	ENST00000433821;ENST00000293062;ENST00000426920;ENST00000405332;ENST00000454404	T;T;T;T	0.30448	1.53;1.56;1.56;1.56	4.78	3.75	0.43078	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.057267	0.64402	D	0.000002	T	0.37073	0.0990	L	0.27053	0.805	0.46521	D	0.999082	D;D;D;D;D;D;D	0.89917	0.997;0.99;0.994;0.999;0.987;0.999;1.0	P;P;D;D;D;D;D	0.76575	0.805;0.512;0.988;0.914;0.988;0.971;0.977	T	0.20174	-1.0283	10	0.72032	D	0.01	-28.4274	7.0414	0.25023	0.0:0.8014:0.0:0.1986	.	215;215;215;215;215;201;215	C0LTP5;C0LTP7;C0LTP2;C0LTP4;C0LTP3;Q8TDF6-2;Q8TDF6	.;.;.;.;.;.;GRP4_HUMAN	P	215	ENSP00000411878:R215P;ENSP00000293062:R215P;ENSP00000445966:R215P;ENSP00000416463:R215P	ENSP00000293062:R215P	R	-	2	0	RASGRP4	43602359	0.997000	0.39634	0.997000	0.53966	0.984000	0.73092	2.924000	0.48876	1.242000	0.43836	0.561000	0.74099	CGG		0.622	RASGRP4-013	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460540.1	NM_170604		G	38910519	C	G	38910519	3	3	813	1	0	0	0	0	1	0	0	0	13083	652	23	4	1425	4	RASGRP4	19	38910519	Missense_Mutation	SNP	C	TCGA-V9-A7HT-01A-11D-A33Q-10	20533195	38910519	20218464	64	48767											
MEGF8	1954	hgsc.bcm.edu	37	19	42879872	42879872	+	Missense_Mutation	SNP	G	G	A	rs376078071		TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr19:42879872G>A	ENST00000251268.6	+	42	7483	c.7483G>A	c.(7483-7485)Gtg>Atg	p.V2495M	MEGF8_ENST00000378073.4_Missense_Mutation_p.V89M|MEGF8_ENST00000334370.4_Missense_Mutation_p.V2428M	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2495					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)				GACGCTGGACGTGACCTTCGG	0.627																																																0								G	MET/VAL	0,4406		0,0,2203	51	31	37		7282	4.9	1	19		37	1,8597	1.2+/-3.3	0,1,4298	no	missense	MEGF8	NM_001410.2	21	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	2428/2779	42879872	1,13003	2203	4299	6502	SO:0001583	missense	1954			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"HBV pre s2 binding protein 1"	604267	"EGF-like-domain, multiple 4", "chromosome 19 open reading frame 49"	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.7483G>A	chr19.hg19:g.42879872G>A	ENSP00000251268:p.Val2495Met		A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	hg19		.	.	.	.	.	.	.	.	.	.	g	24.6	4.550995	0.86127	0.0	1.16E-4	ENSG00000105429	ENST00000334370;ENST00000251268;ENST00000378073	T;T	0.38240	1.15;1.15	4.92	4.92	0.64577	.	0.000000	0.64402	D	0.000005	T	0.54743	0.1877	L	0.46819	1.47	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	T	0.57648	-0.7775	10	0.87932	D	0	-18.7745	17.2736	0.87109	0.0:0.0:1.0:0.0	.	89;2495;2428	F5GZG7;Q7Z7M0;Q7Z7M0-2	.;MEGF8_HUMAN;.	M	2428;2495;89	ENSP00000334219:V2428M;ENSP00000251268:V2495M	ENSP00000251268:V2495M	V	+	1	0	MEGF8	47571712	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	9.181000	0.94874	2.451000	0.82905	0.651000	0.88453	GTG		0.627	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		A	42879872	G	A	42879872	3	1	813	1	0	0	0	0	1	0	0	0	9465	1145	40	1	7444	1	MEGF8	19	42879872	Missense_Mutation	SNP	G	TCGA-V9-A7HT-01A-11D-A33Q-10	3969353	42879872	16249111	65	48768											
C20orf85	128602	hgsc.bcm.edu	37	20	56730567	56730567	+	Missense_Mutation	SNP	T	T	A			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr20:56730567T>A	ENST00000371168.3	+	3	255	c.194T>A	c.(193-195)aTc>aAc	p.I65N		NM_178456.2	NP_848551.1	Q9H1P6	CT085_HUMAN	chromosome 20 open reading frame 85	65										kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	13	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)			AAGCCCAAAATCGAGCTTCCT	0.453																																																0													88	88	88					20																	56730567		2203	4300	6503	SO:0001583	missense	128602			AL354776	CCDS13465.1	20q13.32	2012-10-29			ENSG00000124237	ENSG00000124237			16216	protein-coding gene	gene with protein product	"Low in Lung Cancer 1"						Standard	NM_178456		Approved	bA196N14.1, LLC1	uc002xyv.3	Q9H1P6	OTTHUMG00000032836	ENST00000371168.3:c.194T>A	chr20.hg19:g.56730567T>A	ENSP00000360210:p.Ile65Asn			Missense_Mutation	SNP	ENST00000371168.3	hg19	CCDS13465.1	.	.	.	.	.	.	.	.	.	.	T	11.94	1.788735	0.31685	.	.	ENSG00000124237	ENST00000371168	T	0.24908	1.83	4.68	2.25	0.28309	.	1.023280	0.07799	N	0.956184	T	0.31857	0.0810	M	0.65975	2.015	0.09310	N	1	P	0.47191	0.891	P	0.45138	0.471	T	0.20438	-1.0275	10	0.87932	D	0	-8.7798	6.1898	0.20518	0.0:0.086:0.1606:0.7534	.	65	Q9H1P6	CT085_HUMAN	N	65	ENSP00000360210:I65N	ENSP00000360210:I65N	I	+	2	0	C20orf85	56163973	0.028000	0.19301	0.007000	0.13788	0.333000	0.28666	2.203000	0.42752	0.140000	0.18849	0.383000	0.25322	ATC		0.453	C20orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079866.2	NM_178456		A	56730567	T	A	56730567	3	1	813	1	0	0	0	0	1	0	0	0	2122	1435	50	5	204	5	C20orf85	20	56730567	Missense_Mutation	SNP	T	TCGA-V9-A7HT-01A-11D-A33Q-10		56730567	6294953	66	48769											
BCR	613	hgsc.bcm.edu	37	22	23653908	23653908	+	Silent	SNP	C	C	T	rs138762891		TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr22:23653908C>T	ENST00000305877.8	+	19	3958	c.3207C>T	c.(3205-3207)taC>taT	p.Y1069Y	BCR_ENST00000436990.2_3'UTR|BCR_ENST00000359540.3_Silent_p.Y1025Y	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	1069	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)	AGGTGCCCTACATCGTGCGCC	0.612			T	"ABL1,  FGFR1, JAK2 "	"CML, ALL, AML"								.|||	1	0.000199681	0.0008	0.0	5008	,	,		24815	0.0		0.0	False		,,,				2504	0.0						Dom	yes		22	22q11.21	613	breakpoint cluster region		L	0								C	,	1,4365		0,1,2182	23	16	18		3207,3075	1.2	1	22	dbSNP_134	18	0,8514		0,0,4257	no	coding-synonymous,coding-synonymous	BCR	NM_004327.3,NM_021574.2	,	0,1,6439	TT,TC,CC		0.0,0.0229,0.0078	,	1069/1272,1025/1228	23653908	1,12879	2183	4257	6440	SO:0001819	synonymous_variant	613				CCDS13806.1, CCDS13807.1	22q11	2013-01-10			ENSG00000186716	ENSG00000186716		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	1014	protein-coding gene	gene with protein product		151410		D22S11, BCR1		1657398, 18070886	Standard	NM_004327		Approved	D22S662, CML, PHL, ALL	uc002zww.3	P11274	OTTHUMG00000150655	ENST00000305877.8:c.3207C>T	chr22.hg19:g.23653908C>T			P78501|Q12842|Q4LE80|Q6NZI3	Silent	SNP	ENST00000305877.8	hg19	CCDS13806.1																																																																																				0.612	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075819.1	NM_004327		T	23653908	C	T	23653908	2	4	813	1	0	0	0	0	0	0	0	1	1388	489	17	2		2	BCR	22	23653908	Silent	SNP	C	TCGA-V9-A7HT-01A-11D-A33Q-10		23653908	27650658	67	48770											
P2RY4	5030	hgsc.bcm.edu	37	X	69478929	69478931	+	In_Frame_Del	DEL	GGT	GGT	-			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	GGT	GGT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chrX:69478929_69478931delGGT	ENST00000374519.2	-	1	723_725	c.544_546delACC	c.(544-546)accdel	p.T182del		NM_002565.3	NP_002556.1	P51582	P2RY4_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 4	182					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						GGCACAGGACGGTGGTCCCTTTG	0.606																																																0																																										SO:0001651	inframe_deletion	5030			X91852	CCDS14398.1	Xq13	2012-08-08			ENSG00000186912	ENSG00000186912		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	8542	protein-coding gene	gene with protein product		300038				8537336	Standard	NM_002565		Approved	NRU, P2Y4, UNR, P2P	uc004dxz.1	P51582	OTTHUMG00000021769	ENST00000374519.2:c.544_546delACC	chrX.hg19:g.69478932_69478934delGGT	ENSP00000363643:p.Thr182del		Q4VBB7|Q4VBB8|Q502W2|Q5JT22	In_Frame_Del	DEL	ENST00000374519.2	hg19	CCDS14398.1																																																																																				0.606	P2RY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057058.2	NM_002565		-	69478931	GGT	-	69478929	7	5	813	1	0	1	0	1	0	0	0	0	11355	1103	39	0	555	0	P2RY4	23	69478929	In_Frame_Del	DEL	GGT	TCGA-V9-A7HT-01A-11D-A33Q-10		69478929	85791631	68	48771											
MORC4	79710	hgsc.bcm.edu	37	X	106236528	106236528	+	Missense_Mutation	SNP	A	A	C			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chrX:106236528A>C	ENST00000355610.4	-	3	514	c.240T>G	c.(238-240)aaT>aaG	p.N80K	MORC4_ENST00000255495.7_Missense_Mutation_p.N80K|MORC4_ENST00000535534.1_5'UTR	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	80						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						AACAAGATTTATTCTTGACCT	0.398																																																0													167	151	156					X																	106236528		1899	4108	6007	SO:0001583	missense	79710			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.240T>G	chrX.hg19:g.106236528A>C	ENSP00000347821:p.Asn80Lys		A1YR23|A1YR24|H7BXF1|Q5JUK7|Q96MZ2|Q9HAI7	Missense_Mutation	SNP	ENST00000355610.4	hg19	CCDS14525.2	.	.	.	.	.	.	.	.	.	.	A	10.38	1.333030	0.24167	.	.	ENSG00000133131	ENST00000355610;ENST00000255495	T;T	0.74106	-0.81;-0.81	5.44	3.01	0.34805	ATPase-like, ATP-binding domain (4);	0.479943	0.23594	N	0.046517	T	0.55016	0.1894	N	0.21324	0.655	0.80722	D	1	B;B	0.10296	0.003;0.002	B;B	0.10450	0.005;0.004	T	0.39702	-0.9601	10	0.35671	T	0.21	-0.6851	4.0793	0.09919	0.6372:0.1767:0.1861:0.0	.	80;80	A1YR23;Q8TE76	.;MORC4_HUMAN	K	80	ENSP00000347821:N80K;ENSP00000255495:N80K	ENSP00000255495:N80K	N	-	3	2	MORC4	106123184	0.016000	0.18221	0.980000	0.43619	0.985000	0.73830	0.108000	0.15396	0.287000	0.22375	0.481000	0.45027	AAT		0.398	MORC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057816.3	NM_024657		C	106236528	A	C	106236528	3	2	813	1	0	0	0	0	1	0	0	0	9706	446	16	5	2633	5	MORC4	23	106236528	Missense_Mutation	SNP	A	TCGA-V9-A7HT-01A-11D-A33Q-10	36757599	106236528	49034032	69	48772											
ERRFI1	54206	hgsc.bcm.edu	37	1	8073471	8073472	+	Frame_Shift_Ins	INS	-	-	A			TCGA-WN-A9G9-01A-12D-A36X-10	TCGA-WN-A9G9-10A-01D-A370-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e78e2342-adb4-4c7b-96ae-4e2ccb668d49	394f018a-b0e0-40a9-afd2-2a1a4f552485	g.chr1:8073471_8073472insA	ENST00000377482.5	-	4	1410_1411	c.1187_1188insT	c.(1186-1188)ctafs	p.L396fs	ERRFI1_ENST00000474874.1_Intron	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN	ERBB receptor feedback inhibitor 1	396					lung alveolus development (GO:0048286)|lung epithelium development (GO:0060428)|lung vasculature development (GO:0060426)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of protein autophosphorylation (GO:0031953)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of keratinocyte differentiation (GO:0045616)|response to stress (GO:0006950)|skin morphogenesis (GO:0043589)	cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		GTTCAGGTAGTAGGTAATAATG	0.431																																																0																																										SO:0001589	frameshift_variant	54206			BC025337	CCDS94.1	1p36.23	2008-02-05			ENSG00000116285	ENSG00000116285			18185	protein-coding gene	gene with protein product		608069				10749885, 2780291, 12226756, 11003669	Standard	NM_018948		Approved	MIG-6, GENE-33, RALT	uc001aoz.3	Q9UJM3	OTTHUMG00000001221	ENST00000377482.5:c.1188dupT	chr1.hg19:g.8073472_8073472dupA	ENSP00000366702:p.Leu396fs		B2RDX9|Q9NTG9|Q9UD05	Frame_Shift_Ins	INS	ENST00000377482.5	hg19	CCDS94.1																																																																																				0.431	ERRFI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003617.1	NM_018948		A	8073472	-	A	8073471	7	5	814	1	0	1	1	0	0	0	0	0	5246	1625	57	0	204	0	ERRFI1	1	8073471	Frame_Shift_Ins	INS	-	TCGA-WN-A9G9-01A-12D-A36X-10		8073471	241177150	1	48773											
USP24	23358	hgsc.bcm.edu	37	1	55603533	55603533	+	Silent	SNP	G	G	T			TCGA-WN-A9G9-01A-12D-A36X-10	TCGA-WN-A9G9-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e78e2342-adb4-4c7b-96ae-4e2ccb668d49	394f018a-b0e0-40a9-afd2-2a1a4f552485	g.chr1:55603533G>T	ENST00000294383.6	-	27	2972	c.2973C>A	c.(2971-2973)gcC>gcA	p.A991A	USP24_ENST00000407756.1_Silent_p.A831A	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	991					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						ACAACTGCTTGGCTATTTTCC	0.313																																																0													61	53	56					1																	55603533		1812	4077	5889	SO:0001819	synonymous_variant	23358			AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"Ubiquitin-specific peptidases"	12623	protein-coding gene	gene with protein product		610569	"ubiquitin specific protease 24"			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.2973C>A	chr1.hg19:g.55603533G>T			Q6ZSY2|Q8N2Y4|Q9NXD1	Silent	SNP	ENST00000294383.6	hg19	CCDS44154.2																																																																																				0.313	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			T	55603533	G	T	55603533	2	4	814	1	0	0	0	0	0	0	0	1	17060	1335	47	4		4	USP24	1	55603533	Silent	SNP	G	TCGA-WN-A9G9-01A-12D-A36X-10	47530062	55603533	193647088	2	48774											
SYPL2	284612	hgsc.bcm.edu	37	1	110009739	110009739	+	Missense_Mutation	SNP	T	T	C			TCGA-WN-A9G9-01A-12D-A36X-10	TCGA-WN-A9G9-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e78e2342-adb4-4c7b-96ae-4e2ccb668d49	394f018a-b0e0-40a9-afd2-2a1a4f552485	g.chr1:110009739T>C	ENST00000369872.3	+	2	329	c.113T>C	c.(112-114)aTc>aCc	p.I38T	SYPL2_ENST00000401021.3_Missense_Mutation_p.I38T	NM_001040709.1	NP_001035799.1	Q5VXT5	SYPL2_HUMAN	synaptophysin-like 2	38	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cellular calcium ion homeostasis (GO:0006874)|substantia nigra development (GO:0021762)	integral component of synaptic vesicle membrane (GO:0030285)	transporter activity (GO:0005215)			breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		CTGGGCTTCATCAAAGTTCTC	0.701																																																0													3	4	4					1																	110009739		1622	3533	5155	SO:0001583	missense	284612			AK131459	CCDS41365.1	1p13.3	2008-02-05			ENSG00000143028	ENSG00000143028			27638	protein-coding gene	gene with protein product	"mitsugumin-29"					12975309	Standard	NM_001040709		Approved	Mg29	uc001dxp.3	Q5VXT5	OTTHUMG00000010969	ENST00000369872.3:c.113T>C	chr1.hg19:g.110009739T>C	ENSP00000358888:p.Ile38Thr		A8K0E8|A8KAL7|I0IT67|Q6ZMX1	Missense_Mutation	SNP	ENST00000369872.3	hg19	CCDS41365.1	.	.	.	.	.	.	.	.	.	.	t	18.47	3.630048	0.67015	.	.	ENSG00000143028	ENST00000401021;ENST00000369872	T;T	0.28895	1.59;1.59	4.95	3.81	0.43845	Marvel (1);MARVEL-like domain (1);	0.166220	0.50627	D	0.000119	T	0.23370	0.0565	M	0.70842	2.15	0.42041	D	0.991071	P;P;P	0.43826	0.818;0.503;0.557	P;B;B	0.44561	0.453;0.404;0.167	T	0.04723	-1.0931	10	0.87932	D	0	.	9.711	0.40245	0.0:0.0844:0.0:0.9156	.	38;38;38	B4DYR7;Q5VXT5;Q5VXT5-2	.;SYPL2_HUMAN;.	T	38	ENSP00000383805:I38T;ENSP00000358888:I38T	ENSP00000358888:I38T	I	+	2	0	SYPL2	109811262	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.950000	0.63603	0.732000	0.32470	0.454000	0.30748	ATC		0.701	SYPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030191.1	NM_001006603		C	110009739	T	C	110009739	3	2	814	1	0	0	0	0	1	0	0	0	15468	1435	50	3	119	3	SYPL2	1	110009739	Missense_Mutation	SNP	T	TCGA-WN-A9G9-01A-12D-A36X-10	54406206	110009739	139240882	3	48775											
SPTA1	6708	hgsc.bcm.edu	37	1	158615036	158615047	+	In_Frame_Del	DEL	TCATCTCTCTCT	TCATCTCTCTCT	-			TCGA-WN-A9G9-01A-12D-A36X-10	TCGA-WN-A9G9-10A-01D-A370-10	TCATCTCTCTCT	TCATCTCTCTCT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e78e2342-adb4-4c7b-96ae-4e2ccb668d49	394f018a-b0e0-40a9-afd2-2a1a4f552485	g.chr1:158615036_158615047delTCATCTCTCTCT	ENST00000368147.4	-	29	4305_4316	c.4125_4136delAGAGAGAGATGA	c.(4123-4137)ctagagagagatgat>ctt	p.ERDD1376del		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1376					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)					CTTCTCCAAATCATCTCTCTCTAGCTTGACAG	0.472																																																0																																										SO:0001651	inframe_deletion	6708			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.4125_4136delAGAGAGAGATGA	chr1.hg19:g.158615036_158615047delTCATCTCTCTCT	ENSP00000357129:p.Glu1376_Asp1379del		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	In_Frame_Del	DEL	ENST00000368147.4	hg19	CCDS41423.1																																																																																				0.472	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		-	158615047	TCATCTCTCTCT	-	158615036	7	5	814	1	0	1	0	1	0	0	0	0	15121	1435	50	0	3219	0	SPTA1	1	158615036	In_Frame_Del	DEL	TCATCTCTCTCT	TCGA-WN-A9G9-01A-12D-A36X-10	48605297	158615036	90635585	4	48776											
MNDA	4332	hgsc.bcm.edu	37	1	158815387	158815387	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WN-A9G9-01A-12D-A36X-10	TCGA-WN-A9G9-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e78e2342-adb4-4c7b-96ae-4e2ccb668d49	394f018a-b0e0-40a9-afd2-2a1a4f552485	g.chr1:158815387delC	ENST00000368141.4	+	5	842	c.581delC	c.(580-582)accfs	p.T194fs		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	194					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)					AATCAGGAAACCCAGGCCCAA	0.512																																																0													43	44	44					1																	158815387		2203	4300	6503	SO:0001589	frameshift_variant	4332			BC032319	CCDS1177.1	1q22	2008-02-05			ENSG00000163563	ENSG00000163563			7183	protein-coding gene	gene with protein product		159553				1644857, 7512843	Standard	NM_002432		Approved	PYHIN3	uc001fsz.1	P41218	OTTHUMG00000022776	ENST00000368141.4:c.581delC	chr1.hg19:g.158815387delC	ENSP00000357123:p.Thr194fs			Frame_Shift_Del	DEL	ENST00000368141.4	hg19	CCDS1177.1																																																																																				0.512	MNDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059069.1	NM_002432		-	158815387	C	-	158815387	7	5	814	1	0	1	0	1	0	0	0	0	9678	507	18	0	595	0	MNDA	1	158815387	Frame_Shift_Del	DEL	C	TCGA-WN-A9G9-01A-12D-A36X-10	200351	158815387	90435234	5	48777											
TARBP1	6894	hgsc.bcm.edu	37	1	234541785	234541786	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-WN-A9G9-01A-12D-A36X-10	TCGA-WN-A9G9-10A-01D-A370-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e78e2342-adb4-4c7b-96ae-4e2ccb668d49	394f018a-b0e0-40a9-afd2-2a1a4f552485	g.chr1:234541785_234541786insAA	ENST00000040877.1	-	24	3851_3852	c.3852_3853insTT	c.(3850-3855)tttagtfs	p.S1285fs	TARBP1_ENST00000483404.1_5'UTR	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1285					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)			AGTCGAACACTAAAATTGTGAT	0.381																																																0																																										SO:0001589	frameshift_variant	6894				CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"tRNA methyltransferase 3 homolog (S. cerevisiae)"	605052	"Tar (HIV-1) RNA binding protein 1"			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.3851_3852dupTT	chr1.hg19:g.234541788_234541789dupAA	ENSP00000040877:p.Ser1285fs		Q9H581	Frame_Shift_Ins	INS	ENST00000040877.1	hg19	CCDS1601.1																																																																																				0.381	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646		AA	234541786	-	AA	234541785	7	5	814	1	0	1	1	0	0	0	0	0	15560	1522	53	0	1040	0	TARBP1	1	234541785	Frame_Shift_Ins	INS	-	TCGA-WN-A9G9-01A-12D-A36X-10	75726398	234541785	14708836	6	48778											
AHCTF1	25909	hgsc.bcm.edu	37	1	247063492	247063492	+	Missense_Mutation	SNP	A	A	G			TCGA-WN-A9G9-01A-12D-A36X-10	TCGA-WN-A9G9-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e78e2342-adb4-4c7b-96ae-4e2ccb668d49	394f018a-b0e0-40a9-afd2-2a1a4f552485	g.chr1:247063492A>G	ENST00000391829.2	-	10	1430	c.1307T>C	c.(1306-1308)gTt>gCt	p.V436A	AHCTF1_ENST00000326225.3_Missense_Mutation_p.V445A|AHCTF1_ENST00000366508.1_Missense_Mutation_p.V471A|AHCTF1_ENST00000470300.1_5'Flank			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	436	Necessary for cytoplasmic localization. {ECO:0000250}.|Seven-bladed beta propeller repeats. {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)			CCTACTTACAACAGACTCCAA	0.378																																					Colon(145;197 1800 4745 15099 26333)											0													72	80	77					1																	247063492		2199	4295	6494	SO:0001583	missense	25909				CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"ELYS transcription factor like protein TMBS62"	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.1307T>C	chr1.hg19:g.247063492A>G	ENSP00000375705:p.Val436Ala		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	ENST00000391829.2	hg19		.	.	.	.	.	.	.	.	.	.	A	14.85	2.658875	0.47467	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.35789	1.29;1.29;1.3	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.47040	0.1424	L	0.34521	1.04	0.53688	D	0.999974	D;D	0.69078	0.997;0.997	D;D	0.66351	0.941;0.943	T	0.43972	-0.9358	10	0.48119	T	0.1	-17.8272	14.752	0.69533	1.0:0.0:0.0:0.0	.	471;436	Q8WYP5-2;Q8WYP5	.;ELYS_HUMAN	A	471;445;436	ENSP00000355464:V471A;ENSP00000355465:V445A;ENSP00000375705:V436A	ENSP00000355465:V445A	V	-	2	0	AHCTF1	245130115	1.000000	0.71417	1.000000	0.80357	0.052000	0.14988	8.910000	0.92685	1.936000	0.56123	0.379000	0.24179	GTT		0.378	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		G	247063492	A	G	247063492	3	3	814	1	0	0	0	0	1	0	0	0	408	43	2	3	5601	3	AHCTF1	1	247063492	Missense_Mutation	SNP	A	TCGA-WN-A9G9-01A-12D-A36X-10	12521707	247063492	2187129	7	48779											
OR2L8	391190	hgsc.bcm.edu	37	1	248112664	248112664	+	Nonsense_Mutation	SNP	C	C	T			TCGA-WN-A9G9-01A-12D-A36X-10	TCGA-WN-A9G9-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e78e2342-adb4-4c7b-96ae-4e2ccb668d49	394f018a-b0e0-40a9-afd2-2a1a4f552485	g.chr1:248112664C>T	ENST00000357191.3	+	1	505	c.505C>T	c.(505-507)Cga>Tga	p.R169*	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	169						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(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	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;0.0152)			TCCTTATTGCCGATCCAGGGC	0.478																																																0													224	146	173					1																	248112664		2203	4300	6503	SO:0001587	stop_gained	391190			BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"GPCR / Class A : Olfactory receptors"	15014	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily L, member 8"				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.505C>T	chr1.hg19:g.248112664C>T	ENSP00000349719:p.Arg169*		Q6IF03	Nonsense_Mutation	SNP	ENST00000357191.3	hg19	CCDS31101.1	.	.	.	.	.	.	.	.	.	.	.	14.81	2.647421	0.47258	.	.	ENSG00000196936	ENST00000357191	.	.	.	1.79	-1.05	0.10036	.	1.479880	0.05398	U	0.540099	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	4.4365	0.11552	0.5017:0.364:0.0:0.1343	.	.	.	.	X	169	.	ENSP00000349719:R169X	R	+	1	2	OR2L8	246179287	0.000000	0.05858	0.615000	0.29064	0.832000	0.47134	-0.640000	0.05440	0.072000	0.16694	0.479000	0.44913	CGA		0.478	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2			T	248112664	C	T	248112664	4	4	814	1	0	0	0	0	0	1	0	0	11011	644	23	1	507	1	OR2L8	1	248112664	Nonsense_Mutation	SNP	C	TCGA-WN-A9G9-01A-12D-A36X-10	1049172	248112664	1137957	8	48780											
USP34	9736	hgsc.bcm.edu	37	2	61483604	61483604	+	Missense_Mutation	SNP	C	C	G			TCGA-WN-A9G9-01A-12D-A36X-10	TCGA-WN-A9G9-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e78e2342-adb4-4c7b-96ae-4e2ccb668d49	394f018a-b0e0-40a9-afd2-2a1a4f552485	g.chr2:61483604C>G	ENST00000398571.2	-	48	6212	c.6136G>C	c.(6136-6138)Gat>Cat	p.D2046H		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2046	USP.				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)			GTAACTTCATCAAGAGATTCC	0.308																																																0													72	67	68					2																	61483604		1803	4066	5869	SO:0001583	missense	9736			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.6136G>C	chr2.hg19:g.61483604C>G	ENSP00000381577:p.Asp2046His		A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	hg19	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.233804	0.79688	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571;ENST00000453734	T;T	0.06608	3.28;3.28	5.66	5.66	0.87406	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.32526	0.0832	M	0.89658	3.05	0.80722	D	1	D	0.61697	0.99	D	0.79108	0.992	T	0.15178	-1.0446	10	0.87932	D	0	.	16.043	0.80698	0.1347:0.8653:0.0:0.0	.	2046	Q70CQ2	UBP34_HUMAN	H	1894;1894;2046;324	ENSP00000381577:D2046H;ENSP00000410559:D324H	ENSP00000263989:D1894H	D	-	1	0	USP34	61337108	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.070000	0.71220	2.645000	0.89757	0.650000	0.86243	GAT		0.308	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			G	61483604	C	G	61483604	3	3	814	1	0	0	0	0	1	0	0	0	17070	826	29	4	4636	4	USP34	2	61483604	Missense_Mutation	SNP	C	TCGA-WN-A9G9-01A-12D-A36X-10		61483604	181715769	9	48781											
CEP68	23177	hgsc.bcm.edu	37	2	65299733	65299733	+	Silent	SNP	C	C	A			TCGA-WN-A9G9-01A-12D-A36X-10	TCGA-WN-A9G9-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e78e2342-adb4-4c7b-96ae-4e2ccb668d49	394f018a-b0e0-40a9-afd2-2a1a4f552485	g.chr2:65299733C>A	ENST00000377990.2	+	3	1706	c.1503C>A	c.(1501-1503)tcC>tcA	p.S501S	CEP68_ENST00000260569.4_Intron|RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000537589.1_Silent_p.S113S|CEP68_ENST00000546106.1_Silent_p.S501S|CEP68_ENST00000497039.1_Intron	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	501					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						ATCTAGGATCCATTTCTACCT	0.527																																																0													98	108	104					2																	65299733		2203	4300	6503	SO:0001819	synonymous_variant	23177			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.1503C>A	chr2.hg19:g.65299733C>A			B4DRQ1|D6W5F1|D6W5F2|O60326|Q9BQ18|Q9UDM9	Silent	SNP	ENST00000377990.2	hg19	CCDS1880.2																																																																																				0.527	CEP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251727.2	NM_015147		A	65299733	C	A	65299733	2	1	814	1	0	0	0	0	0	0	0	1	3260	581	21	4		4	CEP68	2	65299733	Silent	SNP	C	TCGA-WN-A9G9-01A-12D-A36X-10	3816129	65299733	177899640	10	48782											
MAT2A	4144	hgsc.bcm.edu	37	2	85768828	85768828	+	Missense_Mutation	SNP	A	A	G			TCGA-WN-A9G9-01A-12D-A36X-10	TCGA-WN-A9G9-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e78e2342-adb4-4c7b-96ae-4e2ccb668d49	394f018a-b0e0-40a9-afd2-2a1a4f552485	g.chr2:85768828A>G	ENST00000306434.3	+	4	488	c.365A>G	c.(364-366)cAt>cGt	p.H122R	MAT2A_ENST00000409017.1_Missense_Mutation_p.H59R|MAT2A_ENST00000490878.1_3'UTR	NM_005911.5	NP_005902.1	P31153	METK2_HUMAN	methionine adenosyltransferase II, alpha	122					cellular nitrogen compound metabolic process (GO:0034641)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|methionine adenosyltransferase complex (GO:0048269)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methionine adenosyltransferase activity (GO:0004478)			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	CAAGGTGTTCATCTTGACAGA	0.403																																																0													99	94	95					2																	85768828		2203	4300	6503	SO:0001583	missense	4144				CCDS1977.1	2p11.2	2008-06-03			ENSG00000168906	ENSG00000168906			6904	protein-coding gene	gene with protein product		601468				1426236, 9703951	Standard	NM_005911		Approved	SAMS2, MATA2, MATII	uc002spr.3	P31153	OTTHUMG00000130174	ENST00000306434.3:c.365A>G	chr2.hg19:g.85768828A>G	ENSP00000303147:p.His122Arg		A8K511|B4DN45|D6W5L1|Q53SP5	Missense_Mutation	SNP	ENST00000306434.3	hg19	CCDS1977.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.326536	0.81690	.	.	ENSG00000168906	ENST00000306434;ENST00000409017	D;D	0.82433	-1.61;-1.61	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.90456	0.7011	M	0.86178	2.8	0.80722	D	1	D;D;D	0.62365	0.983;0.983;0.991	P;P;P	0.61397	0.598;0.809;0.888	D	0.91853	0.5493	10	0.72032	D	0.01	-20.5989	13.4153	0.60966	1.0:0.0:0.0:0.0	.	59;122;122	B4DN45;B4DEX8;P31153	.;.;METK2_HUMAN	R	122;59	ENSP00000303147:H122R;ENSP00000386353:H59R	ENSP00000303147:H122R	H	+	2	0	MAT2A	85622339	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.936000	0.92931	2.053000	0.61076	0.460000	0.39030	CAT		0.403	MAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252491.2	NM_005911		G	85768828	A	G	85768828	3	3	814	1	0	0	0	0	1	0	0	0	9332	217	8	3	379	3	MAT2A	2	85768828	Missense_Mutation	SNP	A	TCGA-WN-A9G9-01A-12D-A36X-10	20469095	85768828	157430545	11	48783											
IMMT	10989	hgsc.bcm.edu	37	2	86385801	86385801	+	Missense_Mutation	SNP	T	T	C			TCGA-WN-A9G9-01A-12D-A36X-10	TCGA-WN-A9G9-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e78e2342-adb4-4c7b-96ae-4e2ccb668d49	394f018a-b0e0-40a9-afd2-2a1a4f552485	g.chr2:86385801T>C	ENST00000410111.3	-	10	1463	c.1076A>G	c.(1075-1077)cAt>cGt	p.H359R	IMMT_ENST00000490238.1_5'UTR|IMMT_ENST00000442664.2_Missense_Mutation_p.H358R|IMMT_ENST00000409051.2_Missense_Mutation_p.H312R|IMMT_ENST00000449247.2_Missense_Mutation_p.H348R|IMMT_ENST00000254636.5_Missense_Mutation_p.H260R|Y_RNA_ENST00000363371.1_RNA	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	359					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						CACCAGCTCATGATACTGAGA	0.438																																																0													62	56	58					2																	86385801		1878	4125	6003	SO:0001583	missense	10989			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.1076A>G	chr2.hg19:g.86385801T>C	ENSP00000387262:p.His359Arg		B1H0U5|B2R5N6|Q14539|Q15092|Q68D41|Q69HW5|Q6IBL0|Q7Z3X1|Q8TAJ5|Q9P0V2	Missense_Mutation	SNP	ENST00000410111.3	hg19	CCDS46355.1	.	.	.	.	.	.	.	.	.	.	T	13.30	2.195826	0.38806	.	.	ENSG00000132305	ENST00000254636;ENST00000449247;ENST00000410111;ENST00000442664;ENST00000409051;ENST00000545283;ENST00000377310	T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59	5.76	5.76	0.90799	.	0.088283	0.85682	D	0.000000	T	0.32526	0.0832	L	0.39633	1.23	0.48830	D	0.999711	B;B;B;B;B;B;B	0.25486	0.127;0.118;0.034;0.043;0.097;0.097;0.043	B;B;B;B;B;B;B	0.41174	0.349;0.078;0.03;0.05;0.047;0.047;0.05	T	0.06373	-1.0830	10	0.02654	T	1	-17.6143	16.0709	0.80928	0.0:0.0:0.0:1.0	.	312;347;327;261;348;327;359	B9A067;B4DKR1;F8W9I1;B4DS66;Q16891-2;Q16891-3;Q16891	.;.;.;.;.;.;IMMT_HUMAN	R	260;348;359;358;312;348;327	ENSP00000254636:H260R;ENSP00000396899:H348R;ENSP00000387262:H359R;ENSP00000407788:H358R;ENSP00000387227:H312R	ENSP00000254636:H260R	H	-	2	0	IMMT	86239312	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	4.525000	0.60559	2.198000	0.70561	0.528000	0.53228	CAT		0.438	IMMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329909.2	NM_006839		C	86385801	T	C	86385801	3	2	814	1	0	0	0	0	1	0	0	0	7720	1464	51	3	1224	3	IMMT	2	86385801	Missense_Mutation	SNP	T	TCGA-WN-A9G9-01A-12D-A36X-10	616973	86385801	156813572	12	48784											
INPP4A	3631	hgsc.bcm.edu	37	2	99156012	99156012	+	Missense_Mutation	SNP	G	G	T			TCGA-WN-A9G9-01A-12D-A36X-10	TCGA-WN-A9G9-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e78e2342-adb4-4c7b-96ae-4e2ccb668d49	394f018a-b0e0-40a9-afd2-2a1a4f552485	g.chr2:99156012G>T	ENST00000523221.1	+	8	692	c.692G>T	c.(691-693)cGc>cTc	p.R231L	INPP4A_ENST00000409540.3_Missense_Mutation_p.R231L|INPP4A_ENST00000074304.5_Missense_Mutation_p.R231L|INPP4A_ENST00000409851.3_Missense_Mutation_p.R231L|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000409016.4_Missense_Mutation_p.R231L|INPP4A_ENST00000545415.1_Missense_Mutation_p.R231L			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	231					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						GCCATCTGCCGCATGTACCGG	0.602																																																0													130	125	126					2																	99156012		2074	4209	6283	SO:0001583	missense	3631			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.692G>T	chr2.hg19:g.99156012G>T	ENSP00000427722:p.Arg231Leu		O15326|Q13187|Q53TD8|Q8TC02	Missense_Mutation	SNP	ENST00000523221.1	hg19	CCDS46369.1	.	.	.	.	.	.	.	.	.	.	G	33	5.275491	0.95459	.	.	ENSG00000040933	ENST00000409016;ENST00000409851;ENST00000074304;ENST00000545415;ENST00000409540;ENST00000523221	T;T;T;T;T;T	0.34859	1.34;1.34;1.34;1.34;1.34;1.34	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.59004	0.2162	M	0.63843	1.955	0.80722	D	1	D;D;D;D	0.89917	0.998;0.999;1.0;1.0	D;D;D;D	0.91635	0.94;0.956;0.999;0.999	T	0.59553	-0.7433	10	0.59425	D	0.04	-22.292	17.811	0.88616	0.0:0.0:1.0:0.0	.	231;231;231;231	Q96PE3-2;Q96PE3-4;Q96PE3;Q96PE3-3	.;.;INP4A_HUMAN;.	L	231	ENSP00000386704:R231L;ENSP00000386777:R231L;ENSP00000074304:R231L;ENSP00000442149:R231L;ENSP00000387294:R231L;ENSP00000427722:R231L	ENSP00000074304:R231L	R	+	2	0	INPP4A	98522444	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.657000	0.98554	2.684000	0.91462	0.585000	0.79938	CGC		0.602	INPP4A-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376095.1	NM_001566		T	99156012	G	T	99156012	3	4	814	1	0	0	0	0	1	0	0	0	7754	1087	38	4	722	4	INPP4A	2	99156012	Missense_Mutation	SNP	G	TCGA-WN-A9G9-01A-12D-A36X-10	12770211	99156012	144043361	13	48785											
CFLAR	8837	hgsc.bcm.edu	37	2	202005084	202005084	+	Missense_Mutation	SNP	A	A	T			TCGA-WN-A9G9-01A-12D-A36X-10	TCGA-WN-A9G9-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e78e2342-adb4-4c7b-96ae-4e2ccb668d49	394f018a-b0e0-40a9-afd2-2a1a4f552485	g.chr2:202005084A>T	ENST00000309955.3	+	5	1043	c.528A>T	c.(526-528)caA>caT	p.Q176H	CFLAR_ENST00000423241.2_Missense_Mutation_p.Q176H|CFLAR-AS1_ENST00000474886.2_RNA|CFLAR-AS1_ENST00000415011.2_RNA|CFLAR_ENST00000340870.5_Missense_Mutation_p.Q176H|CFLAR_ENST00000341222.6_Missense_Mutation_p.Q176H|CFLAR_ENST00000443227.1_Missense_Mutation_p.Q80H|CFLAR_ENST00000342795.5_Missense_Mutation_p.Q176H|CFLAR_ENST00000355558.4_Missense_Mutation_p.Q176H|RNU7-45P_ENST00000459460.1_RNA|CFLAR_ENST00000494258.1_Missense_Mutation_p.Q80H|CFLAR_ENST00000341582.6_Missense_Mutation_p.Q176H|CFLAR_ENST00000457277.1_Missense_Mutation_p.Q176H|CFLAR_ENST00000479953.2_Missense_Mutation_p.Q80H|CFLAR_ENST00000440180.1_Missense_Mutation_p.Q176H	NM_001202515.1|NM_003879.5	NP_001189444.1|NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator	176	Interaction with FADD.|Interaction with caspase-8 propeptide.|Interaction with caspase-8.|Not proteolytically processed and involved in apoptosis inhibition.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of myoblast fusion (GO:1901740)|positive regulation of catalytic activity (GO:0043085)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of necroptotic process (GO:0060544)|regulation of satellite cell proliferation (GO:0014842)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|skeletal myofibril assembly (GO:0014866)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|ripoptosome (GO:0097342)	cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|enzyme activator activity (GO:0008047)|protease binding (GO:0002020)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						TTATAGTTCAAGGAGCAGGGA	0.378																																					Pancreas(16;548 657 22190 32864 42338)											0													120	121	121					2																	202005084		2203	4300	6503	SO:0001583	missense	8837			AF005774	CCDS2337.1, CCDS46487.1, CCDS56157.1, CCDS56158.1, CCDS59436.1	2q33-q34	2014-01-30			ENSG00000003402	ENSG00000003402		"Endogenous ligands"	1876	protein-coding gene	gene with protein product		603599		CASP8AP1		9208847, 9217161	Standard	NM_003879		Approved	CASH, Casper, CLARP, FLAME, FLIP, I-FLICE, MRIT, c-FLIP	uc002uxb.4	O15519	OTTHUMG00000132819	ENST00000309955.3:c.528A>T	chr2.hg19:g.202005084A>T	ENSP00000312455:p.Gln176His		B4DJE0|B7Z9F9|O14673|O14674|O14675|O15137|O15138|O15356|O15510|O43618|O43619|O43620|O60458|O60459|Q53TS6|Q54AF1|Q96TE4|Q9UEW1	Missense_Mutation	SNP	ENST00000309955.3	hg19	CCDS2337.1	.	.	.	.	.	.	.	.	.	.	A	12.71	2.020924	0.35606	.	.	ENSG00000003402	ENST00000309955;ENST00000443227;ENST00000341222;ENST00000355558;ENST00000340870;ENST00000343375;ENST00000341582;ENST00000342795;ENST00000423241;ENST00000440180;ENST00000457277	D;D;D;D;D;D;D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7;-1.7;-1.7;-1.7;-1.7;-1.7;-1.7	4.69	2.29	0.28610	DEATH-like (1);	0.935073	0.09112	N	0.846973	D	0.86234	0.5884	L	0.56769	1.78	0.80722	D	1	D;B;D;D;D;B;D	0.62365	0.964;0.253;0.989;0.989;0.991;0.202;0.966	P;B;P;P;P;B;P	0.60541	0.846;0.173;0.717;0.717;0.876;0.138;0.717	T	0.79918	-0.1600	10	0.56958	D	0.05	-9.6859	5.9993	0.19511	0.784:0.0:0.216:0.0	.	80;176;176;176;176;176;176	O15519-3;C9JK38;O15519-11;O15519-8;O15519;O15519-12;O15519-2	.;.;.;.;CFLAR_HUMAN;.;.	H	176;80;176;176;176;80;176;176;176;176;176	ENSP00000312455:Q176H;ENSP00000413270:Q80H;ENSP00000339335:Q176H;ENSP00000347757:Q176H;ENSP00000339326:Q176H;ENSP00000345807:Q176H;ENSP00000342809:Q176H;ENSP00000399420:Q176H;ENSP00000406775:Q176H;ENSP00000411535:Q176H	ENSP00000312455:Q176H	Q	+	3	2	CFLAR	201713329	0.463000	0.25799	0.485000	0.27403	0.215000	0.24574	0.514000	0.22786	0.521000	0.28445	0.528000	0.53228	CAA		0.378	CFLAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256276.3	NM_003879		T	202005084	A	T	202005084	3	4	814	1	0	0	0	0	1	0	0	0	3294	69	3	5	542	5	CFLAR	2	202005084	Missense_Mutation	SNP	A	TCGA-WN-A9G9-01A-12D-A36X-10	102849072	202005084	41194289	14	48786											
C2orf67	151050	hgsc.bcm.edu	37	2	210894559	210894559	+	Missense_Mutation	SNP	T	T	G			TCGA-WN-A9G9-01A-12D-A36X-10	TCGA-WN-A9G9-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e78e2342-adb4-4c7b-96ae-4e2ccb668d49	394f018a-b0e0-40a9-afd2-2a1a4f552485	g.chr2:210894559T>G	ENST00000281772.9	-	10	2502	c.2239A>C	c.(2239-2241)Aac>Cac	p.N747H	KANSL1L_ENST00000418791.1_Missense_Mutation_p.N705H|AC007038.7_ENST00000452057.1_RNA|RP11-260M2.1_ENST00000608095.1_RNA	NM_152519.2	NP_689732.2	A0AUZ9	KAL1L_HUMAN	KAT8 regulatory NSL complex subunit 1-like	747						histone acetyltransferase complex (GO:0000123)											GATAAAACGTTGACATTGGAA	0.328																																																0													146	145	146					2																	210894559		2203	4300	6503	SO:0001583	missense	151050			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.2239A>C	chr2.hg19:g.210894559T>G	ENSP00000281772:p.Asn747His		B7ZLN1|I6L9A8|Q53TV8|Q53TW3|Q6IS05|Q8TCI1|Q96MI0|Q9UFC3	Missense_Mutation	SNP	ENST00000281772.9	hg19	CCDS33370.1	.	.	.	.	.	.	.	.	.	.	T	11.47	1.649295	0.29336	.	.	ENSG00000144445	ENST00000281772;ENST00000418791	.	.	.	5.5	2.91	0.33838	.	0.298177	0.30930	N	0.008587	T	0.39682	0.1087	L	0.56769	1.78	0.22280	N	0.999231	B;B	0.15930	0.015;0.015	B;B	0.13407	0.009;0.009	T	0.34601	-0.9822	9	0.49607	T	0.09	.	6.1909	0.20524	0.0:0.0811:0.313:0.6059	.	705;747	A0AUZ9-2;A0AUZ9	.;CB067_HUMAN	H	747;705	.	ENSP00000281772:N747H	N	-	1	0	C2orf67	210602804	0.988000	0.35896	0.660000	0.29694	0.791000	0.44710	1.629000	0.37071	0.890000	0.36211	0.533000	0.62120	AAC		0.328	KANSL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336633.3	NM_152519		G	210894559	T	G	210894559	3	3	814	1	0	0	0	0	1	0	0	0	2188	1812	63	5	748	5	C2orf67	2	210894559	Missense_Mutation	SNP	T	TCGA-WN-A9G9-01A-12D-A36X-10	8889475	210894559	32304814	15	48787											
VHL	7428	hgsc.bcm.edu	37	3	10183797	10183797	+	Missense_Mutation	SNP	T	T	A	rs5030807		TCGA-WN-A9G9-01A-12D-A36X-10	TCGA-WN-A9G9-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e78e2342-adb4-4c7b-96ae-4e2ccb668d49	394f018a-b0e0-40a9-afd2-2a1a4f552485	g.chr3:10183797T>A	ENST00000256474.2	+	1	1106	c.266T>A	c.(265-267)cTc>cAc	p.L89H	VHL_ENST00000345392.2_Missense_Mutation_p.L89H|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	89			L -> H (in lung cancer).|L -> P (in VHLD; type I; dbSNP:rs5030807). {ECO:0000269|PubMed:8956040}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|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)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.L89H(11)|p.L89P(6)|p.L89R(3)|p.R60fs*35(1)|p.V84_E94>E(1)|p.V84fs*69(1)|p.L89fs*67(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CCCGTATGGCTCAACTTCGAC	0.726	L89H(NCIH28_PLEURA)	1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	24	Substitution - Missense(20)|Deletion - Frameshift(3)|Complex - deletion inframe(1)	kidney(22)|pancreas(1)|pleura(1)	GRCh37	CM941368	VHL	M	rs5030807						13	16	15					3																	10183797		2106	4156	6262	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.266T>A	chr3.hg19:g.10183797T>A	ENSP00000256474:p.Leu89His		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	hg19	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	T	29.2	4.986585	0.93106	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	D;D	0.99815	-6.9;-6.9	5.06	5.06	0.68205	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.185584	0.46442	D	0.000292	D	0.99576	0.9847	L	0.41492	1.28	0.33129	D	0.542832	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.957	D	0.97755	1.0217	10	0.87932	D	0	-8.4916	12.8448	0.57823	0.0:0.0:0.0:1.0	.	89;89	P40337-2;P40337	.;VHL_HUMAN	H	89	ENSP00000256474:L89H;ENSP00000344757:L89H	ENSP00000256474:L89H	L	+	2	0	VHL	10158797	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	4.914000	0.63348	1.920000	0.55613	0.450000	0.29827	CTC		0.726	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		A	10183797	T	A	10183797	3	1	814	1	0	0	0	0	1	0	0	0	17167	1551	54	5	268	5	VHL	3	10183797	Missense_Mutation	SNP	T	TCGA-WN-A9G9-01A-12D-A36X-10		10183797	187838633	16	48788											
TRIM71	131405	hgsc.bcm.edu	37	3	32859580	32859581	+	Missense_Mutation	DNP	CG	CG	TT			TCGA-WN-A9G9-01A-12D-A36X-10	TCGA-WN-A9G9-10A-01D-A370-10	C|G	C|G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e78e2342-adb4-4c7b-96ae-4e2ccb668d49	394f018a-b0e0-40a9-afd2-2a1a4f552485	g.chr3:32859580_32859581CG>TT	ENST00000383763.5	+	1	71_72	c.8_9CG>TT	c.(7-9)tCG>tTT	p.S3F		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	3					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						CAAATGGCTTCGTTCCCCGAGA	0.649																																																0																																										SO:0001583	missense	131405				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	Exception_encountered	chr3.hg19:g.32859580_32859581delinsTT	ENSP00000373272:p.Ser3Phe			Missense_Mutation|Silent	SNP	ENST00000383763.5	hg19	CCDS43060.1																																																																																				0.649	TRIM71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341565.3	NM_001039111		TT	32859581	CG	TT	32859580	3	4	814	1	0	0	0	0	1	0	0	0	16549	893	31	1	10	1	TRIM71	3	32859580	Missense_Mutation	DNP	CG	TCGA-WN-A9G9-01A-12D-A36X-10	22675783	32859580	165162850	17	48789											
OSBPL11	114885	hgsc.bcm.edu	37	3	125282684	125282684	+	Missense_Mutation	SNP	G	G	C			TCGA-WN-A9G9-01A-12D-A36X-10	TCGA-WN-A9G9-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e78e2342-adb4-4c7b-96ae-4e2ccb668d49	394f018a-b0e0-40a9-afd2-2a1a4f552485	g.chr3:125282684G>C	ENST00000296220.5	-	7	1161	c.872C>G	c.(871-873)aCg>aGg	p.T291R		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	291					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|positive regulation of sequestering of triglyceride (GO:0010890)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						CTCGATTGTCGTTCCTGATGG	0.413																																																0													69	70	70					3																	125282684		2203	4300	6503	SO:0001583	missense	114885			AF392454	CCDS3033.1	3q21	2013-01-10			ENSG00000144909	ENSG00000144909		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16397	protein-coding gene	gene with protein product		606739					Standard	NM_022776		Approved	ORP-11, ORP11, FLJ13012, FLJ13164	uc003eic.3	Q9BXB4	OTTHUMG00000159571	ENST00000296220.5:c.872C>G	chr3.hg19:g.125282684G>C	ENSP00000296220:p.Thr291Arg		A8K9I7	Missense_Mutation	SNP	ENST00000296220.5	hg19	CCDS3033.1	.	.	.	.	.	.	.	.	.	.	G	11.15	1.554856	0.27739	.	.	ENSG00000144909	ENST00000296220	T	0.17854	2.25	5.09	4.21	0.49690	.	0.231057	0.44483	D	0.000442	T	0.14960	0.0361	L	0.40543	1.245	0.44012	D	0.996725	B	0.17852	0.024	B	0.14578	0.011	T	0.04579	-1.0941	10	0.25751	T	0.34	-3.2492	13.4431	0.61125	0.0:0.0:0.8432:0.1568	.	291	Q9BXB4	OSB11_HUMAN	R	291	ENSP00000296220:T291R	ENSP00000296220:T291R	T	-	2	0	OSBPL11	126765374	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	6.916000	0.75776	1.349000	0.45751	0.467000	0.42956	ACG		0.413	OSBPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356295.1	NM_022776		C	125282684	G	C	125282684	3	2	814	1	0	0	0	0	1	0	0	0	11278	1145	40	4	1399	4	OSBPL11	3	125282684	Missense_Mutation	SNP	G	TCGA-WN-A9G9-01A-12D-A36X-10	92423104	125282684	72739746	18	48790											
CAMK2D	817	hgsc.bcm.edu	37	4	114378666	114378666	+	Missense_Mutation	SNP	G	G	A			TCGA-WN-A9G9-01A-12D-A36X-10	TCGA-WN-A9G9-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e78e2342-adb4-4c7b-96ae-4e2ccb668d49	394f018a-b0e0-40a9-afd2-2a1a4f552485	g.chr4:114378666G>A	ENST00000342666.5	-	17	1257	c.1258C>T	c.(1258-1260)Cat>Tat	p.H420Y	CAMK2D_ENST00000394524.3_Missense_Mutation_p.H420Y|CAMK2D_ENST00000296402.5_Missense_Mutation_p.H420Y|CAMK2D_ENST00000394526.2_Missense_Mutation_p.H431Y|CAMK2D_ENST00000394522.3_Missense_Mutation_p.H434Y|CAMK2D_ENST00000418639.2_Missense_Mutation_p.H434Y|CAMK2D_ENST00000379773.2_Missense_Mutation_p.H420Y|CAMK2D_ENST00000429180.1_Missense_Mutation_p.H440Y|CAMK2D_ENST00000511664.1_Missense_Mutation_p.H454Y|CAMK2D_ENST00000508738.1_Missense_Mutation_p.H431Y|CAMK2D_ENST00000505990.1_Missense_Mutation_p.H454Y|CAMK2D_ENST00000454265.2_Missense_Mutation_p.H445Y|CAMK2D_ENST00000515496.1_Missense_Mutation_p.H431Y|CAMK2D_ENST00000514328.1_Missense_Mutation_p.H419Y			Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II delta	420					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)		CCTACCAGATGTACATGAGGG	0.403																																																0													187	185	186					4																	114378666		2203	4300	6503	SO:0001583	missense	817			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.1258C>T	chr4.hg19:g.114378666G>A	ENSP00000339740:p.His420Tyr		A8MVS8|Q52PK4|Q59G21|Q8N553|Q9UGH6|Q9UQE9	Missense_Mutation	SNP	ENST00000342666.5	hg19	CCDS3703.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.2|25.2	4.618401|4.618401	0.87359|0.87359	.|.	.|.	ENSG00000145349|ENSG00000145349	ENST00000394524;ENST00000454265;ENST00000429180;ENST00000418639;ENST00000394526;ENST00000296402;ENST00000511664;ENST00000342666;ENST00000515496;ENST00000514328;ENST00000394522;ENST00000505990;ENST00000379773;ENST00000508738|ENST00000513132	T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.48201|.	0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82|.	5.93|5.93	5.93|5.93	0.95920|0.95920	Protein kinase-like domain (1);Calcium/calmodulin-dependent protein kinase II, association-domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85318|0.85318	0.5669|0.5669	M|M	0.88704|0.88704	2.975|2.975	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.76494|.	0.996;0.997;0.999;0.97;0.998|.	D;D;D;P;D|.	0.87578|.	0.963;0.995;0.998;0.782;0.997|.	D|D	0.86142|0.86142	0.1582|0.1582	10|5	0.32370|.	T|.	0.25|.	.|.	20.3396|20.3396	0.98756|0.98756	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	454;431;434;420;420|.	E9PF82;Q13557-3;Q13557-6;Q13557-12;Q13557|.	.;.;.;.;KCC2D_HUMAN|.	Y|I	420;445;440;434;431;420;454;420;431;419;434;454;420;431|123	ENSP00000378032:H420Y;ENSP00000415248:H445Y;ENSP00000415707:H440Y;ENSP00000406131:H434Y;ENSP00000378034:H431Y;ENSP00000296402:H420Y;ENSP00000425824:H454Y;ENSP00000339740:H420Y;ENSP00000423482:H431Y;ENSP00000423677:H419Y;ENSP00000378030:H434Y;ENSP00000424245:H454Y;ENSP00000369098:H420Y;ENSP00000422566:H431Y|.	ENSP00000296402:H420Y|.	H|T	-|-	1|2	0|0	CAMK2D|CAMK2D	114598115|114598115	1.000000|1.000000	0.71417|0.71417	0.243000|0.243000	0.24186|0.24186	0.679000|0.679000	0.39708|0.39708	9.409000|9.409000	0.97331|0.97331	2.812000|2.812000	0.96745|0.96745	0.555000|0.555000	0.69702|0.69702	CAT|ACA		0.403	CAMK2D-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256420.2			A	114378666	G	A	114378666	3	1	814	1	0	0	0	0	1	0	0	0	2603	1377	48	2	261	2	CAMK2D	4	114378666	Missense_Mutation	SNP	G	TCGA-WN-A9G9-01A-12D-A36X-10		114378666	76775610	19	48791											
SPOCK3	50859	hgsc.bcm.edu	37	4	167810344	167810344	+	Frame_Shift_Del	DEL	A	A	-			TCGA-WN-A9G9-01A-12D-A36X-10	TCGA-WN-A9G9-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e78e2342-adb4-4c7b-96ae-4e2ccb668d49	394f018a-b0e0-40a9-afd2-2a1a4f552485	g.chr4:167810344delA	ENST00000357154.3	-	7	672	c.535delT	c.(535-537)tgtfs	p.C179fs	SPOCK3_ENST00000511531.1_Frame_Shift_Del_p.C179fs|SPOCK3_ENST00000541354.1_Frame_Shift_Del_p.C59fs|SPOCK3_ENST00000504953.1_Frame_Shift_Del_p.C176fs|SPOCK3_ENST00000421836.2_Frame_Shift_Del_p.C128fs|SPOCK3_ENST00000502330.1_Frame_Shift_Del_p.C179fs|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000357545.4_Frame_Shift_Del_p.C176fs|SPOCK3_ENST00000511269.1_Frame_Shift_Del_p.C176fs|SPOCK3_ENST00000512681.1_Frame_Shift_Del_p.C81fs|SPOCK3_ENST00000534949.1_Frame_Shift_Del_p.C83fs|SPOCK3_ENST00000506886.1_Frame_Shift_Del_p.C179fs|SPOCK3_ENST00000541637.1_Frame_Shift_Del_p.C81fs|SPOCK3_ENST00000510741.1_Frame_Shift_Del_p.C176fs|SPOCK3_ENST00000512648.1_Frame_Shift_Del_p.C176fs|SPOCK3_ENST00000535728.1_Frame_Shift_Del_p.C87fs	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	179	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				negative regulation of endopeptidase activity (GO:0010951)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|metalloendopeptidase inhibitor activity (GO:0008191)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		TGTCCTTCACATTTGACTGAG	0.318																																																0													126	121	123					4																	167810344		2203	4300	6503	SO:0001589	frameshift_variant	50859			AJ001454	CCDS34095.1, CCDS54817.1, CCDS56343.1, CCDS56344.1, CCDS56346.1, CCDS56347.1, CCDS58931.1, CCDS75207.1	4q32.3	2011-10-10			ENSG00000196104	ENSG00000196104			13565	protein-coding gene	gene with protein product		607989				11751414	Standard	NM_001204352		Approved	testican-3	uc003iri.1	Q9BQ16	OTTHUMG00000161190	ENST00000357154.3:c.535delT	chr4.hg19:g.167810344delA	ENSP00000349677:p.Cys179fs		B2R7M7|B3KR67|B4DGK5|B4DHB4|B4DHV3|B4DI46|B4DJY3|E7EP61|F5H099|O75705|Q6UW53|Q96Q26	Frame_Shift_Del	DEL	ENST00000357154.3	hg19	CCDS54817.1																																																																																				0.318	SPOCK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364091.1			-	167810344	A	-	167810344	7	5	814	1	0	1	0	1	0	0	0	0	15086	217	8	0	799	0	SPOCK3	4	167810344	Frame_Shift_Del	DEL	A	TCGA-WN-A9G9-01A-12D-A36X-10	53431678	167810344	23343932	20	48792											
ZFYVE16	9765	hgsc.bcm.edu	37	5	79745509	79745509	+	Missense_Mutation	SNP	T	T	C			TCGA-WN-A9G9-01A-12D-A36X-10	TCGA-WN-A9G9-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e78e2342-adb4-4c7b-96ae-4e2ccb668d49	394f018a-b0e0-40a9-afd2-2a1a4f552485	g.chr5:79745509T>C	ENST00000338008.5	+	8	3383	c.3203T>C	c.(3202-3204)cTc>cCc	p.L1068P	ZFYVE16_ENST00000510158.1_Missense_Mutation_p.L1068P|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.L1068P	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	1068					BMP signaling pathway (GO:0030509)|endosomal transport (GO:0016197)|protein targeting to lysosome (GO:0006622)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|early endosome membrane (GO:0031901)|intracellular membrane-bounded organelle (GO:0043231)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein transporter activity (GO:0008565)			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		GCTAATCTACTCGTGAATGTC	0.323																																					Melanoma(150;1452 1854 16018 17851 37292)											0													131	121	124					5																	79745509		2202	4299	6501	SO:0001583	missense	9765			AB002303	CCDS4050.1	5q14.1	2012-09-20			ENSG00000039319	ENSG00000039319		"Zinc fingers, FYVE domain containing", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	20756	protein-coding gene	gene with protein product	"endofin", "protein phosphatase 1, regulatory subunit 69"	608880				11546807	Standard	NM_014733		Approved	KIAA0305, PPP1R69	uc003kgq.4	Q7Z3T8	OTTHUMG00000108178	ENST00000338008.5:c.3203T>C	chr5.hg19:g.79745509T>C	ENSP00000337159:p.Leu1068Pro		O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Missense_Mutation	SNP	ENST00000338008.5	hg19	CCDS4050.1	.	.	.	.	.	.	.	.	.	.	T	18.88	3.718416	0.68844	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	T;T;T	0.49139	0.79;0.79;0.79	5.91	5.91	0.95273	.	0.118100	0.38436	N	0.001681	T	0.68659	0.3025	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.71712	-0.4510	10	0.72032	D	0.01	-11.6581	16.0084	0.80380	0.0:0.0:0.0:1.0	.	1068	Q7Z3T8	ZFY16_HUMAN	P	1068	ENSP00000337159:L1068P;ENSP00000423663:L1068P;ENSP00000426848:L1068P	ENSP00000337159:L1068P	L	+	2	0	ZFYVE16	79781265	1.000000	0.71417	0.364000	0.25888	0.571000	0.35966	7.286000	0.78671	2.263000	0.75096	0.528000	0.53228	CTC		0.323	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226982.2	NM_014733		C	79745509	T	C	79745509	3	2	814	1	0	0	0	0	1	0	0	0	17669	1551	54	3	3229	3	ZFYVE16	5	79745509	Missense_Mutation	SNP	T	TCGA-WN-A9G9-01A-12D-A36X-10		79745509	101169751	21	48793											
PCDHB7	56129	hgsc.bcm.edu	37	5	140554081	140554081	+	Silent	SNP	C	C	T			TCGA-WN-A9G9-01A-12D-A36X-10	TCGA-WN-A9G9-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e78e2342-adb4-4c7b-96ae-4e2ccb668d49	394f018a-b0e0-40a9-afd2-2a1a4f552485	g.chr5:140554081C>T	ENST00000231137.3	+	1	1839	c.1665C>T	c.(1663-1665)aaC>aaT	p.N555N		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	555	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGACGCCAACGACAACTCGC	0.726																																																0													28	32	31					5																	140554081		2192	4283	6475	SO:0001819	synonymous_variant	56129			AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1665C>T	chr5.hg19:g.140554081C>T			A1L3Y8	Silent	SNP	ENST00000231137.3	hg19	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	c	7.905	0.735232	0.15574	.	.	ENSG00000113212	ENST00000543636	.	.	.	4.3	0.795	0.18643	.	.	.	.	.	T	0.60064	0.2240	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59648	-0.7415	5	0.87932	D	0	.	5.9973	0.19501	0.0:0.3365:0.0:0.6635	.	.	.	.	M	338	.	ENSP00000440828:T338M	T	+	2	0	PCDHB7	140534265	0.000000	0.05858	0.992000	0.48379	0.966000	0.64601	-2.009000	0.01455	0.355000	0.24131	0.449000	0.29647	ACG		0.726	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		T	140554081	C	T	140554081	2	4	814	1	0	0	0	0	0	0	0	1	11549	535	19	1		1	PCDHB7	5	140554081	Silent	SNP	C	TCGA-WN-A9G9-01A-12D-A36X-10	60808572	140554081	40361179	22	48794											
RNF39	80352	hgsc.bcm.edu	37	6	30039171	30039172	+	Frame_Shift_Ins	INS	-	-	T			TCGA-WN-A9G9-01A-12D-A36X-10	TCGA-WN-A9G9-10A-01D-A370-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e78e2342-adb4-4c7b-96ae-4e2ccb668d49	394f018a-b0e0-40a9-afd2-2a1a4f552485	g.chr6:30039171_30039172insT	ENST00000244360.6	-	4	1076_1077	c.979_980insA	c.(979-981)aggfs	p.R327fs	RNF39_ENST00000376751.3_Intron	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39	327	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)										AGGGCACAGCCTTACGCAGCCC	0.718																																					NSCLC(8;188 360 1520 20207 31481)											0																																										SO:0001589	frameshift_variant	80352			AF238315	CCDS4673.1, CCDS4674.1	6p21.3	2013-01-09			ENSG00000204618	ENSG00000204618		"RING-type (C3HC4) zinc fingers"	18064	protein-coding gene	gene with protein product		607524				11130983, 11716498	Standard	NM_170769		Approved	HZFw1, LIRF	uc003npe.3	Q9H2S5	OTTHUMG00000031288	ENST00000244360.6:c.980dupA	chr6.hg19:g.30039173_30039173dupT	ENSP00000244360:p.Arg327fs		A2BEK3|A6NCD6|B0S858|Q5SPM8|Q5SPM9|Q5SPN0|Q5SRJ9|Q5SRK1|Q5SS29|Q9H2S3|Q9H2S4	Frame_Shift_Ins	INS	ENST00000244360.6	hg19	CCDS4673.1																																																																																				0.718	RNF39-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076625.3	NM_170769		T	30039172	-	T	30039171	7	5	814	1	0	1	1	0	0	0	0	0	13497	681	24	0	286	0	RNF39	6	30039171	Frame_Shift_Ins	INS	-	TCGA-WN-A9G9-01A-12D-A36X-10		30039171	141075896	23	48795											
DPCR1	135656	hgsc.bcm.edu	37	6	30919864	30919864	+	Missense_Mutation	SNP	C	C	G			TCGA-WN-A9G9-01A-12D-A36X-10	TCGA-WN-A9G9-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e78e2342-adb4-4c7b-96ae-4e2ccb668d49	394f018a-b0e0-40a9-afd2-2a1a4f552485	g.chr6:30919864C>G	ENST00000462446.1	+	2	3651	c.3623C>G	c.(3622-3624)cCt>cGt	p.P1208R	HCG21_ENST00000419481.1_RNA|DPCR1_ENST00000304311.2_Missense_Mutation_p.P50R			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	332						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						CCAGAAAAGCCTACAGAAAAC	0.463																																																0													152	151	151					6																	30919864		2203	4300	6503	SO:0001583	missense	135656			AB064272	CCDS4692.1, CCDS4692.2	6p21.32	2008-02-05			ENSG00000168631	ENSG00000168631			21666	protein-coding gene	gene with protein product		613928				12185533, 10677310	Standard	NM_080870		Approved	PBLT, bCX105N19.6	uc003nsg.2	Q3MIW9	OTTHUMG00000031104	ENST00000462446.1:c.3623C>G	chr6.hg19:g.30919864C>G	ENSP00000417182:p.Pro1208Arg		C9IZC0|Q658M7|Q8WYN2	Missense_Mutation	SNP	ENST00000462446.1	hg19	CCDS4692.2	.	.	.	.	.	.	.	.	.	.	C	10.72	1.428353	0.25726	.	.	ENSG00000168631	ENST00000462446;ENST00000450344;ENST00000304311	T;T	0.31247	1.5;1.5	3.26	-0.882	0.10604	.	.	.	.	.	T	0.19685	0.0473	L	0.34521	1.04	0.09310	N	1	D	0.89917	1.0	D	0.68765	0.96	T	0.05068	-1.0908	9	0.66056	D	0.02	0.0343	3.7848	0.08695	0.3285:0.4587:0.0:0.2128	.	1208	E9PEI6	.	R	1208;332;50	ENSP00000417182:P1208R;ENSP00000305948:P50R	ENSP00000305948:P50R	P	+	2	0	DPCR1	31027843	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.083000	0.14871	-0.107000	0.12088	-0.279000	0.10071	CCT		0.463	DPCR1-001	NOVEL	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076173.3	NM_080870		G	30919864	C	G	30919864	3	3	814	1	0	0	0	0	1	0	0	0	4714	681	24	4	3629	4	DPCR1	6	30919864	Missense_Mutation	SNP	C	TCGA-WN-A9G9-01A-12D-A36X-10	880693	30919864	140195203	24	48796											
PNRC1	10957	hgsc.bcm.edu	37	6	89793765	89793765	+	Missense_Mutation	SNP	T	T	G			TCGA-WN-A9G9-01A-12D-A36X-10	TCGA-WN-A9G9-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e78e2342-adb4-4c7b-96ae-4e2ccb668d49	394f018a-b0e0-40a9-afd2-2a1a4f552485	g.chr6:89793765T>G	ENST00000336032.3	+	2	951	c.834T>G	c.(832-834)aaT>aaG	p.N278K	PNRC1_ENST00000369472.1_Missense_Mutation_p.N93K|PNRC1_ENST00000354922.3_Missense_Mutation_p.N93K	NM_006813.2	NP_006804.1	Q12796	PNRC1_HUMAN	proline-rich nuclear receptor coactivator 1	278					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(76;3.64e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.102)		AAAAGGAAAATTATGCTGGGG	0.383										Multiple Myeloma(7;0.094)																																						0													74	79	77					6																	89793765		2203	4300	6503	SO:0001583	missense	10957			U03105	CCDS5018.1	6q16.1	2008-02-05	2003-09-25	2003-09-26	ENSG00000146278	ENSG00000146278			17278	protein-coding gene	gene with protein product		606714	"proline rich 2"	PROL2		7578250	Standard	NM_006813		Approved	B4-2, PRR2	uc003pmv.3	Q12796	OTTHUMG00000015191	ENST00000336032.3:c.834T>G	chr6.hg19:g.89793765T>G	ENSP00000336931:p.Asn278Lys		B2R6Q0|E1P515|Q5T7J6|Q7Z5N0	Missense_Mutation	SNP	ENST00000336032.3	hg19	CCDS5018.1	.	.	.	.	.	.	.	.	.	.	T	12.65	2.002264	0.35320	.	.	ENSG00000146278	ENST00000369472;ENST00000336032;ENST00000354922	T;T;T	0.49720	0.86;0.77;0.86	5.64	3.26	0.37387	.	0.098076	0.64402	D	0.000001	T	0.52613	0.1745	M	0.73962	2.25	0.38214	D	0.940557	D	0.76494	0.999	D	0.68943	0.961	T	0.58183	-0.7681	10	0.72032	D	0.01	-6.2751	8.7345	0.34519	0.0:0.2152:0.0:0.7848	.	278	Q12796	PNRC1_HUMAN	K	93;278;93	ENSP00000358484:N93K;ENSP00000336931:N278K;ENSP00000347000:N93K	ENSP00000336931:N278K	N	+	3	2	PNRC1	89850484	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.367000	0.44213	0.419000	0.25927	0.533000	0.62120	AAT		0.383	PNRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041471.1	NM_006813		G	89793765	T	G	89793765	3	3	814	1	0	0	0	0	1	0	0	0	12176	1490	52	5	840	5	PNRC1	6	89793765	Missense_Mutation	SNP	T	TCGA-WN-A9G9-01A-12D-A36X-10	58873901	89793765	81321302	25	48797											
GPR141	353345	hgsc.bcm.edu	37	7	37780739	37780739	+	Silent	SNP	C	C	T			TCGA-WN-A9G9-01A-12D-A36X-10	TCGA-WN-A9G9-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e78e2342-adb4-4c7b-96ae-4e2ccb668d49	394f018a-b0e0-40a9-afd2-2a1a4f552485	g.chr7:37780739C>T	ENST00000447769.1	+	4	1033	c.744C>T	c.(742-744)taC>taT	p.Y248Y	EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000334425.1_Silent_p.Y248Y|GPR141_ENST00000461610.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	248						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						GGATCTATTACTTGAATGTTG	0.398																																																0													177	172	174					7																	37780739		2203	4300	6503	SO:0001819	synonymous_variant	353345			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.744C>T	chr7.hg19:g.37780739C>T			A4D1X7|Q0VAR5|Q86SP3	Silent	SNP	ENST00000447769.1	hg19	CCDS5451.1																																																																																				0.398	GPR141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219943.2	NM_181791		T	37780739	C	T	37780739	2	4	814	1	0	0	0	0	0	0	0	1	6651	576	20	2		2	GPR141	7	37780739	Silent	SNP	C	TCGA-WN-A9G9-01A-12D-A36X-10		37780739	121357924	26	48798											
C7orf36	57002	hgsc.bcm.edu	37	7	39612136	39612136	+	Missense_Mutation	SNP	G	G	C			TCGA-WN-A9G9-01A-12D-A36X-10	TCGA-WN-A9G9-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e78e2342-adb4-4c7b-96ae-4e2ccb668d49	394f018a-b0e0-40a9-afd2-2a1a4f552485	g.chr7:39612136G>C	ENST00000223273.2	+	3	555	c.512G>C	c.(511-513)tGt>tCt	p.C171S	YAE1D1_ENST00000432096.2_Intron	NM_020192.3	NP_064577.1	Q9NRH1	YAED1_HUMAN	Yae1 domain containing 1	171																	AACAAAAACTGTAGCAAGAGC	0.388																																																0													105	106	105					7																	39612136		2203	4300	6503	SO:0001583	missense	57002			AF226046	CCDS5459.1, CCDS64630.1	7p14.1	2011-11-24	2011-11-24	2011-11-24	ENSG00000241127	ENSG00000241127			24857	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 36"	C7orf36		12477932	Standard	NM_020192		Approved	GK003	uc003thc.4	Q9NRH1	OTTHUMG00000128689	ENST00000223273.2:c.512G>C	chr7.hg19:g.39612136G>C	ENSP00000223273:p.Cys171Ser		A4D1W4|B4DE83|Q6IAF7|Q8WVZ5	Missense_Mutation	SNP	ENST00000223273.2	hg19	CCDS5459.1	.	.	.	.	.	.	.	.	.	.	G	9.647	1.140562	0.21205	.	.	ENSG00000241127	ENST00000223273	T	0.52295	0.67	5.93	4.1	0.47936	.	0.134009	0.64402	D	0.000001	T	0.31199	0.0789	L	0.31065	0.9	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.25745	-1.0123	10	0.62326	D	0.03	-3.9594	3.8091	0.08789	0.1436:0.1357:0.5882:0.1324	.	171	Q9NRH1	CG036_HUMAN	S	171	ENSP00000223273:C171S	ENSP00000223273:C171S	C	+	2	0	C7orf36	39578661	0.010000	0.17322	0.827000	0.32855	0.652000	0.38707	0.587000	0.23909	0.829000	0.34733	0.655000	0.94253	TGT		0.388	YAE1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250586.1	NM_020192		C	39612136	G	C	39612136	3	2	814	1	0	0	0	0	1	0	0	0	2392	1377	48	4	522	4	C7orf36	7	39612136	Missense_Mutation	SNP	G	TCGA-WN-A9G9-01A-12D-A36X-10	1831397	39612136	119526527	27	48799											
ABCA13	154664	hgsc.bcm.edu	37	7	48317734	48317734	+	Nonsense_Mutation	SNP	C	C	T			TCGA-WN-A9G9-01A-12D-A36X-10	TCGA-WN-A9G9-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e78e2342-adb4-4c7b-96ae-4e2ccb668d49	394f018a-b0e0-40a9-afd2-2a1a4f552485	g.chr7:48317734C>T	ENST00000435803.1	+	18	6967	c.6943C>T	c.(6943-6945)Caa>Taa	p.Q2315*		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2315					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						GAAACTGGATCAATTTCTTAC	0.239																																																0													19	18	18					7																	48317734		1775	4024	5799	SO:0001587	stop_gained	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.6943C>T	chr7.hg19:g.48317734C>T	ENSP00000411096:p.Gln2315*		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Nonsense_Mutation	SNP	ENST00000435803.1	hg19	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	46	12.263306	0.99651	.	.	ENSG00000179869	ENST00000435803	.	.	.	4.88	3.95	0.45737	.	0.651374	0.13231	N	0.403679	.	.	.	.	.	.	0.47183	D	0.999344	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	8.1462	0.31113	0.0:0.878:0.0:0.122	.	.	.	.	X	2315	.	ENSP00000411096:Q2315X	Q	+	1	0	ABCA13	48288280	0.090000	0.21635	0.028000	0.17463	0.343000	0.28985	0.786000	0.26844	1.097000	0.41459	0.650000	0.86243	CAA		0.239	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		T	48317734	C	T	48317734	4	4	814	1	0	0	0	0	0	1	0	0	31	827	29	2	6842	2	ABCA13	7	48317734	Nonsense_Mutation	SNP	C	TCGA-WN-A9G9-01A-12D-A36X-10	8705598	48317734	110820929	28	48800											
CLIP2	7461	hgsc.bcm.edu	37	7	73791021	73791021	+	Frame_Shift_Del	DEL	T	T	-			TCGA-WN-A9G9-01A-12D-A36X-10	TCGA-WN-A9G9-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e78e2342-adb4-4c7b-96ae-4e2ccb668d49	394f018a-b0e0-40a9-afd2-2a1a4f552485	g.chr7:73791021delT	ENST00000395060.1	+	9	2290	c.2290delT	c.(2290-2292)ttgfs	p.L764fs	CLIP2_ENST00000361545.5_Frame_Shift_Del_p.L729fs|CLIP2_ENST00000223398.6_Frame_Shift_Del_p.L764fs			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	764						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						GAAGAAGATGTTGGACTACGA	0.612																																																0													29	34	32					7																	73791021		2203	4300	6503	SO:0001589	frameshift_variant	7461			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.2290delT	chr7.hg19:g.73791021delT	ENSP00000378500:p.Leu764fs		O14527|O43611	Frame_Shift_Del	DEL	ENST00000395060.1	hg19	CCDS5569.1																																																																																				0.612	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1	NM_003388		-	73791021	T	-	73791021	7	5	814	1	0	1	0	1	0	0	0	0	3535	1722	60	0	2324	0	CLIP2	7	73791021	Frame_Shift_Del	DEL	T	TCGA-WN-A9G9-01A-12D-A36X-10	25473287	73791021	85347642	29	48801											
EPHB4	2050	hgsc.bcm.edu	37	7	100414914	100414914	+	Silent	SNP	C	C	A			TCGA-WN-A9G9-01A-12D-A36X-10	TCGA-WN-A9G9-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e78e2342-adb4-4c7b-96ae-4e2ccb668d49	394f018a-b0e0-40a9-afd2-2a1a4f552485	g.chr7:100414914C>A	ENST00000358173.3	-	8	1956	c.1488G>T	c.(1486-1488)ggG>ggT	p.G496G	EPHB4_ENST00000360620.3_Silent_p.G496G|EPHB4_ENST00000477446.1_5'UTR	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	496	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			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)					CCCGCTTCAGCCCCCGCAGCT	0.687																																					GBM(200;2113 3072 25865 52728)											0													18	19	18					7																	100414914		2200	4296	6496	SO:0001819	synonymous_variant	2050			AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3395	protein-coding gene	gene with protein product		600011	"EphB4"	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.1488G>T	chr7.hg19:g.100414914C>A			B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Silent	SNP	ENST00000358173.3	hg19	CCDS5706.1																																																																																				0.687	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	NM_004444		A	100414914	C	A	100414914	2	1	814	1	0	0	0	0	0	0	0	1	5179	726	26	4		4	EPHB4	7	100414914	Silent	SNP	C	TCGA-WN-A9G9-01A-12D-A36X-10	26623893	100414914	58723749	30	48802											
MUC17	140453	hgsc.bcm.edu	37	7	100684959	100684959	+	Missense_Mutation	SNP	C	C	T			TCGA-WN-A9G9-01A-12D-A36X-10	TCGA-WN-A9G9-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e78e2342-adb4-4c7b-96ae-4e2ccb668d49	394f018a-b0e0-40a9-afd2-2a1a4f552485	g.chr7:100684959C>T	ENST00000306151.4	+	3	10326	c.10262C>T	c.(10261-10263)aCa>aTa	p.T3421I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3421	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)					ACCCTTTCAACAACTCCTGTG	0.498																																																0													246	252	250					7																	100684959		2203	4300	6503	SO:0001583	missense	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.10262C>T	chr7.hg19:g.100684959C>T	ENSP00000302716:p.Thr3421Ile		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	hg19	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	10.54	1.378183	0.24944	.	.	ENSG00000169876	ENST00000306151	T	0.03441	3.93	1.37	1.37	0.22104	.	.	.	.	.	T	0.05547	0.0146	N	0.24115	0.695	0.09310	N	0.999999	D	0.61697	0.99	P	0.56088	0.791	T	0.45818	-0.9235	9	0.36615	T	0.2	.	8.2792	0.31889	0.0:1.0:0.0:0.0	.	3421	Q685J3	MUC17_HUMAN	I	3421	ENSP00000302716:T3421I	ENSP00000302716:T3421I	T	+	2	0	MUC17	100471679	0.007000	0.16637	0.015000	0.15790	0.027000	0.11550	1.274000	0.33132	0.715000	0.32103	0.186000	0.17326	ACA		0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		T	100684959	C	T	100684959	3	4	814	1	0	0	0	0	1	0	0	0	9976	478	17	2	10272	2	MUC17	7	100684959	Missense_Mutation	SNP	C	TCGA-WN-A9G9-01A-12D-A36X-10	270045	100684959	58453704	31	48803											
BRAF	673	hgsc.bcm.edu	37	7	140507773	140507774	+	Frame_Shift_Ins	INS	-	-	T			TCGA-WN-A9G9-01A-12D-A36X-10	TCGA-WN-A9G9-10A-01D-A370-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e78e2342-adb4-4c7b-96ae-4e2ccb668d49	394f018a-b0e0-40a9-afd2-2a1a4f552485	g.chr7:140507773_140507774insT	ENST00000288602.6	-	5	757_758	c.697_698insA	c.(697-699)acafs	p.T233fs		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	233					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)	GTTGTGTGTTGTAAGTGGAACA	0.312		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)		Dom	yes		7	7q34	673	v-raf murine sarcoma viral oncogene homolog B1	yes	E	0																																										SO:0001589	frameshift_variant	673	Familial Cancer Database	CFC, CFCS	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.698dupA	chr7.hg19:g.140507774_140507774dupT	ENSP00000288602:p.Thr233fs		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Frame_Shift_Ins	INS	ENST00000288602.6	hg19	CCDS5863.1																																																																																				0.312	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		T	140507774	-	T	140507773	7	5	814	1	0	1	1	0	0	0	0	0	1498	1377	48	0	1658	0	BRAF	7	140507773	Frame_Shift_Ins	INS	-	TCGA-WN-A9G9-01A-12D-A36X-10	39822814	140507773	18630890	32	48804											
CSMD1	64478	hgsc.bcm.edu	37	8	2910077	2910077	+	Nonsense_Mutation	SNP	C	C	A			TCGA-WN-A9G9-01A-12D-A36X-10	TCGA-WN-A9G9-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e78e2342-adb4-4c7b-96ae-4e2ccb668d49	394f018a-b0e0-40a9-afd2-2a1a4f552485	g.chr8:2910077C>A	ENST00000520002.1	-	51	8125	c.7570G>T	c.(7570-7572)Gag>Tag	p.E2524*	CSMD1_ENST00000602557.1_Nonsense_Mutation_p.E2524*|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.E2523*|CSMD1_ENST00000602723.1_Nonsense_Mutation_p.E2524*|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.E2524*|CSMD1_ENST00000542608.1_Nonsense_Mutation_p.E2523*			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2524	Sushi 15. {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)		TTGAAGCCCTCATGACATTCA	0.502																																																0													68	65	66					8																	2910077		1951	4141	6092	SO:0001587	stop_gained	64478					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.7570G>T	chr8.hg19:g.2910077C>A	ENSP00000430733:p.Glu2524*		Q0H0J5|Q96QU9|Q96RM4	Nonsense_Mutation	SNP	ENST00000520002.1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	48|48	14.850392|14.850392	0.99812|0.99812	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608|ENST00000335551	.|.	.|.	.|.	5.32|5.32	4.43|4.43	0.53597|0.53597	.|.	0.336188|.	0.27482|.	N|.	0.019168|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.24483|.	T|.	0.36|.	.|.	13.7213|13.7213	0.62728|0.62728	0.0:0.9254:0.0:0.0746|0.0:0.9254:0.0:0.0746	.|.	.|.	.|.	.|.	X|L	2524;2524;2385;2523;2523|1940	.|.	ENSP00000320445:E2385X|.	E|X	-|-	1|2	0|2	CSMD1|CSMD1	2897484|2897484	0.959000|0.959000	0.32827|0.32827	0.951000|0.951000	0.38953|0.38953	0.103000|0.103000	0.19146|0.19146	2.127000|2.127000	0.42035|0.42035	2.628000|2.628000	0.89032|0.89032	0.655000|0.655000	0.94253|0.94253	GAG|TGA		0.502	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		A	2910077	C	A	2910077	4	1	814	1	0	0	0	0	0	1	0	0	3946	835	29	4	3211	4	CSMD1	8	2910077	Nonsense_Mutation	SNP	C	TCGA-WN-A9G9-01A-12D-A36X-10		2910077	143453945	33	48805											
PTK2B	2185	hgsc.bcm.edu	37	8	27315863	27315863	+	Missense_Mutation	SNP	A	A	T			TCGA-WN-A9G9-01A-12D-A36X-10	TCGA-WN-A9G9-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e78e2342-adb4-4c7b-96ae-4e2ccb668d49	394f018a-b0e0-40a9-afd2-2a1a4f552485	g.chr8:27315863A>T	ENST00000397501.1	+	36	3675	c.2867A>T	c.(2866-2868)aAg>aTg	p.K956M	PTK2B_ENST00000346049.5_Missense_Mutation_p.K956M|PTK2B_ENST00000420218.2_Missense_Mutation_p.K914M|PTK2B_ENST00000544172.1_Missense_Mutation_p.K956M|PTK2B_ENST00000517339.1_Missense_Mutation_p.K914M|PTK2B_ENST00000338238.4_Missense_Mutation_p.K914M	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	956	Focal adhesion targeting (FAT).|Interaction with TGFB1I1. {ECO:0000250}.				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)	CTCATCAACAAGATGCGGCTG	0.562																																																0													77	57	64					8																	27315863		2203	4300	6503	SO:0001583	missense	2185			U33284	CCDS6057.1, CCDS6058.1	8p21.1	2013-02-18	2013-02-18		ENSG00000120899	ENSG00000120899			9612	protein-coding gene	gene with protein product		601212	"protein tyrosine kinase 2 beta", "PTK2B protein tyrosine kinase 2 beta"	FAK2		7544443, 7499242	Standard	NM_173174		Approved	CAKB, PYK2, RAFTK, PTK, CADTK	uc003xfp.2	Q14289	OTTHUMG00000102082	ENST00000397501.1:c.2867A>T	chr8.hg19:g.27315863A>T	ENSP00000380638:p.Lys956Met		D3DST0|Q13475|Q14290|Q16709|Q6PID4	Missense_Mutation	SNP	ENST00000397501.1	hg19	CCDS6057.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.500119	0.85176	.	.	ENSG00000120899	ENST00000397501;ENST00000338238;ENST00000544172;ENST00000346049;ENST00000420218;ENST00000517339	T;T;T;T;T;T	0.35789	1.29;1.29;1.29;1.29;1.29;1.29	4.91	4.91	0.64330	Focal adhesion kinase, targeting (FAT) domain (3);	0.000000	0.85682	D	0.000000	T	0.57577	0.2063	M	0.72118	2.19	0.80722	D	1	P;D	0.89917	0.915;1.0	P;D	0.87578	0.596;0.998	T	0.59883	-0.7370	10	0.52906	T	0.07	.	12.5376	0.56150	1.0:0.0:0.0:0.0	.	914;956	Q14289-2;Q14289	.;FAK2_HUMAN	M	956;914;956;956;914;914	ENSP00000380638:K956M;ENSP00000342242:K914M;ENSP00000440926:K956M;ENSP00000332816:K956M;ENSP00000391995:K914M;ENSP00000427931:K914M	ENSP00000342242:K914M	K	+	2	0	PTK2B	27371780	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.139000	0.94554	2.048000	0.60808	0.460000	0.39030	AAG		0.562	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219916.1	NM_004103		T	27315863	A	T	27315863	3	4	814	1	0	0	0	0	1	0	0	0	12769	72	3	5	2985	5	PTK2B	8	27315863	Missense_Mutation	SNP	A	TCGA-WN-A9G9-01A-12D-A36X-10	24405786	27315863	119048159	34	48806											
ZFHX4	79776	hgsc.bcm.edu	37	8	77775451	77775451	+	Silent	SNP	T	T	A	rs199874527		TCGA-WN-A9G9-01A-12D-A36X-10	TCGA-WN-A9G9-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e78e2342-adb4-4c7b-96ae-4e2ccb668d49	394f018a-b0e0-40a9-afd2-2a1a4f552485	g.chr8:77775451T>A	ENST00000521891.2	+	11	9949	c.9501T>A	c.(9499-9501)ccT>ccA	p.P3167P	ZFHX4_ENST00000455469.2_Silent_p.P3122P|ZFHX4_ENST00000050961.6_Silent_p.P3118P|ZFHX4_ENST00000518282.1_Silent_p.P3141P	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3118					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)			ctccaccacctcctcctcctc	0.522										HNSCC(33;0.089)																																						0													52	53	53					8																	77775451		2064	4225	6289	SO:0001819	synonymous_variant	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.9501T>A	chr8.hg19:g.77775451T>A			G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	hg19	CCDS47878.2																																																																																				0.522	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		A	77775451	T	A	77775451	2	1	814	1	0	0	0	0	0	0	0	1	17640	1538	54	5		5	ZFHX4	8	77775451	Silent	SNP	T	TCGA-WN-A9G9-01A-12D-A36X-10	50459588	77775451	68588571	35	48807											
S1PR3	1903	hgsc.bcm.edu	37	9	91616360	91616361	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-WN-A9G9-01A-12D-A36X-10	TCGA-WN-A9G9-10A-01D-A370-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e78e2342-adb4-4c7b-96ae-4e2ccb668d49	394f018a-b0e0-40a9-afd2-2a1a4f552485	g.chr9:91616360_91616361delCT	ENST00000375846.3	+	1	4940_4941	c.245_246delCT	c.(244-246)gctfs	p.A82fs	S1PR3_ENST00000358157.2_Frame_Shift_Del_p.A82fs			Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	82					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|anatomical structure morphogenesis (GO:0009653)|cytokine production (GO:0001816)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of establishment of endothelial barrier (GO:1903141)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of interleukin-1 beta production (GO:0032651)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|integrin binding (GO:0005178)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						GGCAACCTGGCTCTCTGCGACC	0.495											OREG0019291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0																																										SO:0001589	frameshift_variant	1903			AF022139	CCDS6680.1	9q22.1-q22.2	2012-08-08	2008-04-30	2008-04-30	ENSG00000213694	ENSG00000213694		"GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"	3167	protein-coding gene	gene with protein product	"sphingosine-1-phosphate receptor 3"	601965	"endothelial differentiation, sphingolipid G-protein-coupled receptor, 3"	EDG3		8878560, 9409733	Standard	NM_005226		Approved	EDG-3	uc004aqe.4	Q99500	OTTHUMG00000020173	ENST00000375846.3:c.245_246delCT	chr9.hg19:g.91616364_91616365delCT	ENSP00000365006:p.Ala82fs	1283	Q5SQD8|Q7Z5I2	Frame_Shift_Del	DEL	ENST00000375846.3	hg19	CCDS6680.1																																																																																				0.495	S1PR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052979.2	NM_005226		-	91616361	CT	-	91616360	7	5	814	1	0	1	0	1	0	0	0	0	13801	797	28	0	247	0	S1PR3	9	91616360	Frame_Shift_Del	DEL	CT	TCGA-WN-A9G9-01A-12D-A36X-10		91616360	49597071	36	48808											
FKTN	2218	hgsc.bcm.edu	37	9	108397413	108397413	+	Nonsense_Mutation	SNP	C	C	A			TCGA-WN-A9G9-01A-12D-A36X-10	TCGA-WN-A9G9-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e78e2342-adb4-4c7b-96ae-4e2ccb668d49	394f018a-b0e0-40a9-afd2-2a1a4f552485	g.chr9:108397413C>A	ENST00000223528.2	+	10	1378	c.1254C>A	c.(1252-1254)taC>taA	p.Y418*	FKTN_ENST00000357998.5_Nonsense_Mutation_p.Y418*|FKTN_ENST00000540160.1_3'UTR|FKTN_ENST00000602661.1_Nonsense_Mutation_p.Y418*|FKTN_ENST00000448551.2_Nonsense_Mutation_p.Y418*	NM_006731.2	NP_006722.2	O75072	FKTN_HUMAN	fukutin	418					muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|nervous system development (GO:0007399)|regulation of protein glycosylation (GO:0060049)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transferase activity (GO:0016740)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						CCCTCGAATACATTGAAGCCA	0.473																																																0													203	181	188					9																	108397413		2203	4300	6503	SO:0001587	stop_gained	2218				CCDS6766.1	9q31-q33	2014-09-17	2007-11-21	2007-11-21	ENSG00000106692	ENSG00000106692			3622	protein-coding gene	gene with protein product		607440	"Fukuyama type congenital muscular dystrophy (fukutin)"	FCMD		8275093, 17036286, 17044012	Standard	NM_001079802		Approved	LGMD2M	uc004bcs.3	O75072	OTTHUMG00000020425	ENST00000223528.2:c.1254C>A	chr9.hg19:g.108397413C>A	ENSP00000223528:p.Tyr418*		B4DUX9|J3KP13|Q3MIJ1|Q96TE1|Q9P295	Nonsense_Mutation	SNP	ENST00000223528.2	hg19	CCDS6766.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.282505|5.282505	0.95489|0.95489	.|.	.|.	ENSG00000106692|ENSG00000106692	ENST00000457847|ENST00000223528;ENST00000357998	.|.	.|.	.|.	6.04|6.04	1.09|1.09	0.20402|0.20402	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.29850|.	0.0746|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.17077|.	-1.0381|.	4|.	.|0.02654	.|T	.|1	1.15|1.15	10.5637|10.5637	0.45161|0.45161	0.0:0.5396:0.0:0.4604|0.0:0.5396:0.0:0.4604	.|.	.|.	.|.	.|.	K|X	115|418	.|.	.|ENSP00000223528:Y418X	T|Y	+|+	2|3	0|2	FKTN|FKTN	107437234|107437234	0.964000|0.964000	0.33143|0.33143	0.996000|0.996000	0.52242|0.52242	0.993000|0.993000	0.82548|0.82548	0.154000|0.154000	0.16343|0.16343	0.163000|0.163000	0.19507|0.19507	0.563000|0.563000	0.77884|0.77884	ACA|TAC		0.473	FKTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053505.1	NM_006731		A	108397413	C	A	108397413	4	1	814	1	0	0	0	0	0	1	0	0	5921	489	17	4	1288	4	FKTN	9	108397413	Nonsense_Mutation	SNP	C	TCGA-WN-A9G9-01A-12D-A36X-10	16781053	108397413	32816018	37	48809											
TOR1B	27348	hgsc.bcm.edu	37	9	132569640	132569640	+	Silent	SNP	C	C	T			TCGA-WN-A9G9-01A-12D-A36X-10	TCGA-WN-A9G9-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e78e2342-adb4-4c7b-96ae-4e2ccb668d49	394f018a-b0e0-40a9-afd2-2a1a4f552485	g.chr9:132569640C>T	ENST00000259339.2	+	3	699	c.639C>T	c.(637-639)ctC>ctT	p.L213L		NM_014506.1	NP_055321.1	O14657	TOR1B_HUMAN	torsin family 1, member B (torsin B)	213					ATP catabolic process (GO:0006200)|chaperone mediated protein folding requiring cofactor (GO:0051085)|endoplasmic reticulum organization (GO:0007029)|nuclear membrane organization (GO:0071763)|protein homooligomerization (GO:0051260)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)	12		Ovarian(14;0.0586)				TCATCTTTCTCAGGTCAGCGG	0.488																																																0													172	167	169					9																	132569640		2203	4300	6503	SO:0001819	synonymous_variant	27348			AF007872	CCDS6929.1	9q34	2008-07-21			ENSG00000136816	ENSG00000136816			11995	protein-coding gene	gene with protein product		608050				9288096, 10644435	Standard	NM_014506		Approved	DQ1, MGC4386	uc004byk.1	O14657	OTTHUMG00000020795	ENST00000259339.2:c.639C>T	chr9.hg19:g.132569640C>T				Silent	SNP	ENST00000259339.2	hg19	CCDS6929.1																																																																																				0.488	TOR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054615.1	NM_014506		T	132569640	C	T	132569640	2	4	814	1	0	0	0	0	0	0	0	1	16379	813	29	2		2	TOR1B	9	132569640	Silent	SNP	C	TCGA-WN-A9G9-01A-12D-A36X-10	24172227	132569640	8643791	38	48810											
ERCC6	2074	hgsc.bcm.edu	37	10	50708590	50708590	+	Missense_Mutation	SNP	T	T	C			TCGA-WN-A9G9-01A-12D-A36X-10	TCGA-WN-A9G9-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e78e2342-adb4-4c7b-96ae-4e2ccb668d49	394f018a-b0e0-40a9-afd2-2a1a4f552485	g.chr10:50708590T>C	ENST00000355832.5	-	7	1757	c.1679A>G	c.(1678-1680)aAt>aGt	p.N560S	ERCC6_ENST00000542458.1_5'UTR	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	560	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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						TTGCCTGTAATTTGAACCACG	0.458								Direct reversal of damage;Nucleotide excision repair (NER)																																								0													148	129	135					10																	50708590		2203	4300	6503	SO:0001583	missense	2074			L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"Cockayne syndrome B protein"	609413	"excision repair cross-complementing rodent repair deficiency, complementation group 6"	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.1679A>G	chr10.hg19:g.50708590T>C	ENSP00000348089:p.Asn560Ser		D3DX94|Q5W0L9	Missense_Mutation	SNP	ENST00000355832.5	hg19	CCDS7229.1	.	.	.	.	.	.	.	.	.	.	T	11.32	1.604045	0.28534	.	.	ENSG00000225830	ENST00000355832	D	0.92199	-2.99	5.87	5.87	0.94306	DEAD-like helicase (2);SNF2-related (1);	.	.	.	.	T	0.81230	0.4779	N	0.01800	-0.715	0.80722	D	1	B	0.27068	0.167	B	0.27608	0.081	T	0.78932	-0.2009	9	0.27785	T	0.31	-26.6076	16.5764	0.84681	0.0:0.0:0.0:1.0	.	560	Q03468	ERCC6_HUMAN	S	560	ENSP00000348089:N560S	ENSP00000348089:N560S	N	-	2	0	ERCC6	50378596	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.249000	0.72427	2.371000	0.80710	0.533000	0.62120	AAT		0.458	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124		C	50708590	T	C	50708590	3	2	814	1	0	0	0	0	1	0	0	0	5219	1493	52	3	2862	3	ERCC6	10	50708590	Missense_Mutation	SNP	T	TCGA-WN-A9G9-01A-12D-A36X-10		50708590	84826157	39	48811											
LRRC32	2615	hgsc.bcm.edu	37	11	76371485	76371485	+	Silent	SNP	G	G	A			TCGA-WN-A9G9-01A-12D-A36X-10	TCGA-WN-A9G9-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e78e2342-adb4-4c7b-96ae-4e2ccb668d49	394f018a-b0e0-40a9-afd2-2a1a4f552485	g.chr11:76371485G>A	ENST00000407242.2	-	3	1394	c.1152C>T	c.(1150-1152)gcC>gcT	p.A384A	LRRC32_ENST00000260061.5_Silent_p.A384A|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000404995.1_Silent_p.A384A	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	384					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						GAGACCCCAGGGCTCTGGCGC	0.647																																																0													18	20	19					11																	76371485		2199	4289	6488	SO:0001819	synonymous_variant	2615			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.1152C>T	chr11.hg19:g.76371485G>A			Q86V06	Silent	SNP	ENST00000407242.2	hg19	CCDS8245.1																																																																																				0.647	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257926.2	NM_005512		A	76371485	G	A	76371485	2	1	814	1	0	0	0	0	0	0	0	1	8989	1219	43	2		2	LRRC32	11	76371485	Silent	SNP	G	TCGA-WN-A9G9-01A-12D-A36X-10		76371485	58635031	40	48812											
ATM	472	hgsc.bcm.edu	37	11	108143336	108143336	+	Splice_Site	SNP	T	T	A			TCGA-WN-A9G9-01A-12D-A36X-10	TCGA-WN-A9G9-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e78e2342-adb4-4c7b-96ae-4e2ccb668d49	394f018a-b0e0-40a9-afd2-2a1a4f552485	g.chr11:108143336T>A	ENST00000452508.2	+	22	3342		c.e22+2		ATM_ENST00000278616.4_Splice_Site			Q13315	ATM_HUMAN	ATM serine/threonine kinase						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)	p.?(1)		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)	TTGCTTGAGGTGAGTTTTTGC	0.299			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)											105	108	107					11																	108143336		2201	4298	6499	SO:0001630	splice_region_variant	472	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.3153+2T>A	chr11.hg19:g.108143336T>A			B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Splice_Site	SNP	ENST00000452508.2	hg19	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.163596	0.78226	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7767	0.78228	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATM	107648546	1.000000	0.71417	0.976000	0.42696	0.907000	0.53573	4.461000	0.60115	2.174000	0.68829	0.533000	0.62120	.		0.299	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051	Intron	A	108143336	T	A	108143336	5	1	814	1	0	0	0	0	0	0	1	0	1109	1710	59	5	3233	5	ATM	11	108143336	Splice_Site	SNP	T	TCGA-WN-A9G9-01A-12D-A36X-10	31771851	108143336	26863180	41	48813											
HNRNPA1	3178	hgsc.bcm.edu	37	12	54675583	54675583	+	Missense_Mutation	SNP	T	T	C			TCGA-WN-A9G9-01A-12D-A36X-10	TCGA-WN-A9G9-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e78e2342-adb4-4c7b-96ae-4e2ccb668d49	394f018a-b0e0-40a9-afd2-2a1a4f552485	g.chr12:54675583T>C	ENST00000340913.6	+	3	190	c.137T>C	c.(136-138)aTg>aCg	p.M46T	CBX5_ENST00000209875.4_5'Flank|RP11-968A15.2_ENST00000547177.1_RNA|RP11-968A15.8_ENST00000553061.1_RNA|HNRNPA1_ENST00000330752.8_Missense_Mutation_p.M46T|HNRNPA1_ENST00000547276.1_Missense_Mutation_p.M46T|HNRNPA1_ENST00000546500.1_Missense_Mutation_p.M46T	NM_002136.2|NM_031157.2	NP_002127.1|NP_112420.1	P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	46	Globular A domain.|RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|mRNA transport (GO:0051028)|nuclear export (GO:0051168)|nuclear import (GO:0051170)|RNA export from nucleus (GO:0006405)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)|single-stranded RNA binding (GO:0003727)			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						TCTCAGGTAATGAGAGATCCA	0.448																																					Colon(83;502 1289 8436 16406 24870)											0													47	47	47					12																	54675583		1972	4195	6167	SO:0001583	missense	3178			BC009600	CCDS41793.1, CCDS44909.1	12q13.1	2013-10-11		2007-08-16	ENSG00000135486	ENSG00000135486		"RNA binding motif (RRM) containing"	5031	protein-coding gene	gene with protein product		164017		HNRPA1		1733858	Standard	XR_245923		Approved	hnRNPA1, hnRNP-A1	uc001sfl.3	P09651		ENST00000340913.6:c.137T>C	chr12.hg19:g.54675583T>C	ENSP00000341826:p.Met46Thr		A8K4Z8|Q3MIB7|Q6PJZ7	Missense_Mutation	SNP	ENST00000340913.6	hg19	CCDS44909.1	.	.	.	.	.	.	.	.	.	.	T	16.89	3.248556	0.59103	.	.	ENSG00000135486	ENST00000546500;ENST00000547708;ENST00000547617;ENST00000552494;ENST00000340913;ENST00000330752;ENST00000552591;ENST00000551133;ENST00000547276;ENST00000548688;ENST00000550994	D;D;D;D;D;D;D	0.89552	-2.53;-2.53;-2.53;-2.53;-2.53;-2.53;-2.53	3.81	3.81	0.43845	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.64402	D	0.000002	D	0.94489	0.8226	M	0.89214	3.015	0.58432	D	0.999996	D;P;P;P;D;B;P;D	0.89917	0.981;0.453;0.749;0.893;0.99;0.164;0.749;1.0	P;B;P;P;D;B;P;D	0.83275	0.855;0.38;0.631;0.597;0.965;0.161;0.631;0.996	D	0.94901	0.8056	10	0.87932	D	0	.	11.1785	0.48614	0.0:0.0:0.0:1.0	.	24;46;46;46;46;46;46;46	Q9BSM5;F8VRQ1;F8W6I7;F8VSB5;F8VXY0;P09651-3;P09651-2;P09651	.;.;.;.;.;.;.;ROA1_HUMAN	T	46;46;46;46;46;46;46;46;46;65;1	ENSP00000448617:M46T;ENSP00000448229:M46T;ENSP00000341826:M46T;ENSP00000333504:M46T;ENSP00000447260:M46T;ENSP00000447782:M65T;ENSP00000448917:M1T	ENSP00000333504:M46T	M	+	2	0	HNRNPA1	52961850	1.000000	0.71417	1.000000	0.80357	0.459000	0.32528	7.892000	0.87324	1.698000	0.51180	0.260000	0.18958	ATG		0.448	HNRNPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000405480.1	NM_031157		C	54675583	T	C	54675583	3	2	814	1	0	0	0	0	1	0	0	0	7259	1464	51	3	147	3	HNRNPA1	12	54675583	Missense_Mutation	SNP	T	TCGA-WN-A9G9-01A-12D-A36X-10		54675583	79176312	42	48814											
GNPTAB	79158	hgsc.bcm.edu	37	12	102147264	102147264	+	Missense_Mutation	SNP	G	G	T	rs281865020		TCGA-WN-A9G9-01A-12D-A36X-10	TCGA-WN-A9G9-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e78e2342-adb4-4c7b-96ae-4e2ccb668d49	394f018a-b0e0-40a9-afd2-2a1a4f552485	g.chr12:102147264G>T	ENST00000299314.7	-	19	3750	c.3488C>A	c.(3487-3489)aCa>aAa	p.T1163K		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	1163					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						AGCCTTCACTGTCTGAGCATC	0.408																																																0													129	116	120					12																	102147264		2203	4300	6503	SO:0001583	missense	79158			AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"EF-hand domain containing"	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.3488C>A	chr12.hg19:g.102147264G>T	ENSP00000299314:p.Thr1163Lys		A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Missense_Mutation	SNP	ENST00000299314.7	hg19	CCDS9088.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.654854	0.88056	.	.	ENSG00000111670	ENST00000299314	D	0.81996	-1.56	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.87128	0.6100	L	0.31664	0.95	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87818	0.2636	10	0.54805	T	0.06	-19.2071	19.2587	0.93959	0.0:0.0:1.0:0.0	.	1163	Q3T906	GNPTA_HUMAN	K	1163	ENSP00000299314:T1163K	ENSP00000299314:T1163K	T	-	2	0	GNPTAB	100671395	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.471000	0.97696	2.547000	0.85894	0.591000	0.81541	ACA		0.408	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409182.1			T	102147264	G	T	102147264	3	4	814	1	0	0	0	0	1	0	0	0	6547	1377	48	4	294	4	GNPTAB	12	102147264	Missense_Mutation	SNP	G	TCGA-WN-A9G9-01A-12D-A36X-10	47471681	102147264	31704631	43	48815											
MYH7	4625	hgsc.bcm.edu	37	14	23902759	23902759	+	Silent	SNP	G	G	T	rs370743876		TCGA-WN-A9G9-01A-12D-A36X-10	TCGA-WN-A9G9-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e78e2342-adb4-4c7b-96ae-4e2ccb668d49	394f018a-b0e0-40a9-afd2-2a1a4f552485	g.chr14:23902759G>T	ENST00000355349.3	-	3	345	c.183C>A	c.(181-183)gcC>gcA	p.A61A		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	61					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)		ACTCGGTCTCGGCAGTGACTT	0.567																																																0													127	98	108					14																	23902759		2203	4300	6503	SO:0001819	synonymous_variant	4625			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.183C>A	chr14.hg19:g.23902759G>T			A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	hg19	CCDS9601.1																																																																																				0.567	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		T	23902759	G	T	23902759	2	4	814	1	0	0	0	0	0	0	0	1	10041	1103	39	4		4	MYH7	14	23902759	Silent	SNP	G	TCGA-WN-A9G9-01A-12D-A36X-10		23902759	83446781	44	48816											
FAM98B	283742	hgsc.bcm.edu	37	15	38776812	38776812	+	IGR	SNP	T	T	A	rs201831942		TCGA-WN-A9G9-01A-12D-A36X-10	TCGA-WN-A9G9-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e78e2342-adb4-4c7b-96ae-4e2ccb668d49	394f018a-b0e0-40a9-afd2-2a1a4f552485	g.chr15:38776812T>A	ENST00000491535.1	+	0	3111				FAM98B_ENST00000397609.2_Silent_p.G418G	NM_001042429.1	NP_001035894.1	Q52LJ0	FA98B_HUMAN	family with sequence similarity 98, member B							cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-splicing ligase complex (GO:0072669)	poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8		all_cancers(109;3.11e-17)|all_epithelial(112;2.64e-15)|Lung NSC(122;2.11e-11)|all_lung(180;5.61e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;9e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0209)		GAGGAggtggtggtggtggtg	0.463																																																0													24	23	23					15																	38776812		1552	3434	4986	SO:0001628	intergenic_variant	283742				CCDS10047.2	15q14	2006-11-29		2005-11-20	ENSG00000171262	ENSG00000171262			26773	protein-coding gene	gene with protein product						12477932	Standard	NM_173611		Approved	FLJ38426	uc001zkc.3	Q52LJ0	OTTHUMG00000129831		chr15.hg19:g.38776812T>A			A8MUW5|Q8N935	Silent	SNP	ENST00000491535.1	hg19	CCDS42015.1																																																																																				0.463	FAM98B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252071.2	NM_173611		A	38776812	T	A	38776812	1	1	814	0	1	0	0	0	0	0	0	0	5659	1683	59	5		5	FAM98B	15	38776812	IGR	SNP	T	TCGA-WN-A9G9-01A-12D-A36X-10		38776812	63754580	45	48817	524	2									
FAM98B	283742	hgsc.bcm.edu	37	15	38776815	38776815	+	IGR	SNP	T	T	A	rs201831942		TCGA-WN-A9G9-01A-12D-A36X-10	TCGA-WN-A9G9-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e78e2342-adb4-4c7b-96ae-4e2ccb668d49	394f018a-b0e0-40a9-afd2-2a1a4f552485	g.chr15:38776815T>A	ENST00000491535.1	+	0	3111				FAM98B_ENST00000397609.2_Silent_p.G419G	NM_001042429.1	NP_001035894.1	Q52LJ0	FA98B_HUMAN	family with sequence similarity 98, member B							cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-splicing ligase complex (GO:0072669)	poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8		all_cancers(109;3.11e-17)|all_epithelial(112;2.64e-15)|Lung NSC(122;2.11e-11)|all_lung(180;5.61e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;9e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0209)		GAggtggtggtggtggtggtg	0.458																																																0																																										SO:0001628	intergenic_variant	283742				CCDS10047.2	15q14	2006-11-29		2005-11-20	ENSG00000171262	ENSG00000171262			26773	protein-coding gene	gene with protein product						12477932	Standard	NM_173611		Approved	FLJ38426	uc001zkc.3	Q52LJ0	OTTHUMG00000129831		chr15.hg19:g.38776815T>A			A8MUW5|Q8N935	Silent	SNP	ENST00000491535.1	hg19	CCDS42015.1																																																																																				0.458	FAM98B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252071.2	NM_173611		A	38776815	T	A	38776815	1	1	814	0	1	0	0	0	0	0	0	0	5659	1683	59	5		5	FAM98B	15	38776815	IGR	SNP	T	TCGA-WN-A9G9-01A-12D-A36X-10	3	38776815	63754577	46	48818	524	2									
PDE8A	5151	hgsc.bcm.edu	37	15	85652313	85652313	+	Silent	SNP	A	A	C			TCGA-WN-A9G9-01A-12D-A36X-10	TCGA-WN-A9G9-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e78e2342-adb4-4c7b-96ae-4e2ccb668d49	394f018a-b0e0-40a9-afd2-2a1a4f552485	g.chr15:85652313A>C	ENST00000310298.4	+	13	1318	c.1066A>C	c.(1066-1068)Aga>Cga	p.R356R	PDE8A_ENST00000557957.1_Silent_p.R284R|PDE8A_ENST00000339708.5_Silent_p.R310R|PDE8A_ENST00000394553.1_Silent_p.R356R|PDE8A_ENST00000557819.2_3'UTR			O60658	PDE8A_HUMAN	phosphodiesterase 8A	356					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)	TAAAGACAGGAGAAAAGGCTC	0.368																																																0													111	106	108					15																	85652313		2203	4299	6502	SO:0001819	synonymous_variant	5151			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.1066A>C	chr15.hg19:g.85652313A>C			B3KXE6|H0YMZ7|Q6P9H3|Q969I1|Q96PC9|Q96PD0|Q96PD1|Q96T71|Q9UMB7|Q9UMC3	Silent	SNP	ENST00000310298.4	hg19	CCDS10336.1																																																																																				0.368	PDE8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309018.1	NM_002605		C	85652313	A	C	85652313	2	2	814	1	0	0	0	0	0	0	0	1	11655	296	11	5		5	PDE8A	15	85652313	Silent	SNP	A	TCGA-WN-A9G9-01A-12D-A36X-10	46875498	85652313	16879079	47	48819											
ZNF771	51333	hgsc.bcm.edu	37	16	30419477	30419477	+	Missense_Mutation	SNP	G	G	A			TCGA-WN-A9G9-01A-12D-A36X-10	TCGA-WN-A9G9-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e78e2342-adb4-4c7b-96ae-4e2ccb668d49	394f018a-b0e0-40a9-afd2-2a1a4f552485	g.chr16:30419477G>A	ENST00000319296.5	+	2	480	c.103G>A	c.(103-105)Gag>Aag	p.E35K	ZNF771_ENST00000566625.1_Missense_Mutation_p.E35K|ZNF771_ENST00000564550.1_Missense_Mutation_p.E35K|ZNF771_ENST00000434417.1_Missense_Mutation_p.E35K			Q7L3S4	ZN771_HUMAN	zinc finger protein 771	35	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)							Colorectal(24;0.193)			ggagaagtatgaggtggTGAA	0.582																																																0													206	234	225					16																	30419477		2176	4264	6440	SO:0001583	missense	51333			BC026192	CCDS45460.1	16p11.2	2013-01-08				ENSG00000179965		"Zinc fingers, C2H2-type"	29653	protein-coding gene	gene with protein product						12477932	Standard	NM_016643		Approved	DSC43	uc010ver.2	Q7L3S4		ENST00000319296.5:c.103G>A	chr16.hg19:g.30419477G>A	ENSP00000323945:p.Glu35Lys		Q8TAQ7|Q9NYI6	Missense_Mutation	SNP	ENST00000319296.5	hg19	CCDS45460.1	.	.	.	.	.	.	.	.	.	.	G	18.37	3.608829	0.66558	.	.	ENSG00000179965	ENST00000434417;ENST00000319296	T;T	0.07444	3.19;3.19	4.86	3.82	0.43975	.	.	.	.	.	T	0.04003	0.0112	N	0.08118	0	0.28185	N	0.92801	B	0.23854	0.092	B	0.10450	0.005	T	0.30149	-0.9988	9	0.10377	T	0.69	-6.4062	10.3652	0.44019	0.0:0.1994:0.8006:0.0	.	35	Q7L3S4	ZN771_HUMAN	K	35	ENSP00000416197:E35K;ENSP00000323945:E35K	ENSP00000323945:E35K	E	+	1	0	ZNF771	30326978	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.857000	0.39399	2.634000	0.89283	0.491000	0.48974	GAG		0.582	ZNF771-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434612.2	NM_016643		A	30419477	G	A	30419477	3	1	814	1	0	0	0	0	1	0	0	0	18149	1291	45	2	105	2	ZNF771	16	30419477	Missense_Mutation	SNP	G	TCGA-WN-A9G9-01A-12D-A36X-10		30419477	59935276	48	48820											
NEURL4	84461	hgsc.bcm.edu	37	17	7225239	7225239	+	Missense_Mutation	SNP	T	T	A			TCGA-WN-A9G9-01A-12D-A36X-10	TCGA-WN-A9G9-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e78e2342-adb4-4c7b-96ae-4e2ccb668d49	394f018a-b0e0-40a9-afd2-2a1a4f552485	g.chr17:7225239T>A	ENST00000399464.2	-	17	2831	c.2816A>T	c.(2815-2817)tAt>tTt	p.Y939F	RP11-542C16.2_ENST00000575474.1_5'Flank|NEURL4_ENST00000570460.1_Missense_Mutation_p.Y915F|NEURL4_ENST00000315614.7_Missense_Mutation_p.Y937F	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	939	NHR 5. {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						GCCATGAGCATAGCCAGCGGC	0.587																																																0													102	103	103					17																	7225239		2139	4239	6378	SO:0001583	missense	84461				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.2816A>T	chr17.hg19:g.7225239T>A	ENSP00000382390:p.Tyr939Phe		Q6GPI8|Q96IU9|Q9H0B0	Missense_Mutation	SNP	ENST00000399464.2	hg19	CCDS42251.1	.	.	.	.	.	.	.	.	.	.	T	15.17	2.752850	0.49362	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	T;T	0.24723	1.87;1.84	5.87	5.87	0.94306	NEUZ (3);	0.066390	0.64402	D	0.000005	T	0.19765	0.0475	N	0.03294	-0.36	0.37210	D	0.904753	D;D	0.63046	0.99;0.992	P;P	0.61722	0.829;0.893	T	0.28586	-1.0039	10	0.12430	T	0.62	-12.3966	8.7135	0.34397	0.0:0.084:0.0:0.916	.	937;939	Q96JN8-2;Q96JN8	.;NEUL4_HUMAN	F	937;939	ENSP00000319826:Y937F;ENSP00000382390:Y939F	ENSP00000319826:Y937F	Y	-	2	0	NEURL4	7165963	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	4.145000	0.58065	2.244000	0.73946	0.533000	0.62120	TAT		0.587	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	NM_032442		A	7225239	T	A	7225239	3	1	814	1	0	0	0	0	1	0	0	0	10349	1406	49	5	1924	5	NEURL4	17	7225239	Missense_Mutation	SNP	T	TCGA-WN-A9G9-01A-12D-A36X-10		7225239	73969971	49	48821											
MED1	5469	hgsc.bcm.edu	37	17	37595435	37595435	+	Missense_Mutation	SNP	C	C	A			TCGA-WN-A9G9-01A-12D-A36X-10	TCGA-WN-A9G9-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e78e2342-adb4-4c7b-96ae-4e2ccb668d49	394f018a-b0e0-40a9-afd2-2a1a4f552485	g.chr17:37595435C>A	ENST00000394287.3	-	6	616	c.411G>T	c.(409-411)gaG>gaT	p.E137D	MED1_ENST00000300651.6_Missense_Mutation_p.E137D			O95243	MBD4_HUMAN	mediator complex subunit 1	0	MBD. {ECO:0000255|PROSITE- ProRule:PRU00338}.				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)		GCTGTACAAGCTCCGGACAGC	0.348										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)											0													92	90	90					17																	37595435		2203	4300	6503	SO:0001583	missense	5469			L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"PPAR binding protein"	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000394287.3:c.411G>T	chr17.hg19:g.37595435C>A	ENSP00000377828:p.Glu137Asp		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000394287.3	hg19		.	.	.	.	.	.	.	.	.	.	C	11.87	1.768760	0.31320	.	.	ENSG00000125686	ENST00000394287;ENST00000300651	T	0.36699	1.24	5.35	2.31	0.28768	Mediator complex, subunit Med1, metazoa/fungi (1);	.	.	.	.	T	0.48624	0.1510	M	0.70275	2.135	0.46222	D	0.998931	P;P	0.48089	0.905;0.724	P;B	0.55667	0.781;0.183	T	0.42732	-0.9434	9	0.56958	D	0.05	-15.0086	8.7576	0.34654	0.0:0.6417:0.0:0.3583	.	137;137	Q15648;Q15648-3	MED1_HUMAN;.	D	137	ENSP00000300651:E137D	ENSP00000300651:E137D	E	-	3	2	MED1	34848961	0.837000	0.29446	1.000000	0.80357	0.984000	0.73092	-0.167000	0.09940	0.340000	0.23745	0.591000	0.81541	GAG		0.348	MED1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000256944.1	NM_004774		A	37595435	C	A	37595435	3	1	814	1	0	0	0	0	1	0	0	0	9427	796	28	4	4382	4	MED1	17	37595435	Missense_Mutation	SNP	C	TCGA-WN-A9G9-01A-12D-A36X-10	30370196	37595435	43599775	50	48822											
TOB1	10140	hgsc.bcm.edu	37	17	48940877	48940877	+	Missense_Mutation	SNP	T	T	C			TCGA-WN-A9G9-01A-12D-A36X-10	TCGA-WN-A9G9-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e78e2342-adb4-4c7b-96ae-4e2ccb668d49	394f018a-b0e0-40a9-afd2-2a1a4f552485	g.chr17:48940877T>C	ENST00000268957.3	-	3	930	c.502A>G	c.(502-504)Atg>Gtg	p.M168V	TOB1_ENST00000509385.1_5'UTR|TOB1_ENST00000499247.2_Missense_Mutation_p.M168V	NM_001243877.1	NP_001230806.1	P50616	TOB1_HUMAN	transducer of ERBB2, 1	168					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060212)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of translation (GO:0017148)|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 signal transduction (GO:0009967)|SMAD protein import into nucleus (GO:0007184)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor tyrosine kinase binding (GO:0030971)|SH3/SH2 adaptor activity (GO:0005070)|transcription corepressor activity (GO:0003714)			breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			GACCGGGGCATGAAGGTAGGG	0.522											OREG0024576	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(144;643 1919 24513 29423 40686)											0													91	76	81					17																	48940877		2203	4300	6503	SO:0001583	missense	10140			D38305	CCDS11576.1	17q21.33	2012-08-14			ENSG00000141232	ENSG00000141232			11979	protein-coding gene	gene with protein product		605523		TROB1		8632892, 17785442	Standard	NM_005749		Approved	TOB, TROB	uc002isw.3	P50616	OTTHUMG00000162277	ENST00000268957.3:c.502A>G	chr17.hg19:g.48940877T>C	ENSP00000268957:p.Met168Val	958	B2R9T0|D3DTY3|Q4KMQ0	Missense_Mutation	SNP	ENST00000268957.3	hg19	CCDS11576.1	.	.	.	.	.	.	.	.	.	.	T	5.997	0.367857	0.11352	.	.	ENSG00000141232	ENST00000499247;ENST00000268957	T;T	0.40225	1.04;1.04	5.67	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.37265	0.0997	L	0.52266	1.64	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.10405	-1.0631	10	0.29301	T	0.29	.	12.9615	0.58462	0.0:0.0:0.1352:0.8648	.	168	P50616	TOB1_HUMAN	V	168	ENSP00000427695:M168V;ENSP00000268957:M168V	ENSP00000268957:M168V	M	-	1	0	TOB1	46295876	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.903000	0.69877	0.964000	0.38108	0.533000	0.62120	ATG		0.522	TOB1-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000368364.1			C	48940877	T	C	48940877	3	2	814	1	0	0	0	0	1	0	0	0	16352	1464	51	3	539	3	TOB1	17	48940877	Missense_Mutation	SNP	T	TCGA-WN-A9G9-01A-12D-A36X-10	11345442	48940877	32254333	51	48823											
GNA13	10672	hgsc.bcm.edu	37	17	63049759	63049759	+	Frame_Shift_Del	DEL	G	G	-			TCGA-WN-A9G9-01A-12D-A36X-10	TCGA-WN-A9G9-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e78e2342-adb4-4c7b-96ae-4e2ccb668d49	394f018a-b0e0-40a9-afd2-2a1a4f552485	g.chr17:63049759delG	ENST00000439174.2	-	2	616	c.371delC	c.(370-372)tcgfs	p.S124fs	GNA13_ENST00000541118.1_Frame_Shift_Del_p.S29fs|RP11-583F2.5_ENST00000581796.1_RNA	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	124					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						GGTATCAAACGACATCATCTT	0.468																																																0													148	144	146					17																	63049759		2203	4300	6503	SO:0001589	frameshift_variant	10672			L22075	CCDS11661.1, CCDS62302.1	17q24.1	2014-09-04			ENSG00000120063	ENSG00000120063			4381	protein-coding gene	gene with protein product		604406				7791744	Standard	NM_006572		Approved	G13, MGC46138	uc002jfc.3	Q14344	OTTHUMG00000179316	ENST00000439174.2:c.371delC	chr17.hg19:g.63049759delG	ENSP00000400717:p.Ser124fs		B2R977|B7Z7R0|F5H1G8|Q8TD70	Frame_Shift_Del	DEL	ENST00000439174.2	hg19	CCDS11661.1																																																																																				0.468	GNA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445720.1	NM_006572		-	63049759	G	-	63049759	7	5	814	1	0	1	0	1	0	0	0	0	6503	1059	37	0	774	0	GNA13	17	63049759	Frame_Shift_Del	DEL	G	TCGA-WN-A9G9-01A-12D-A36X-10	14108882	63049759	18145451	52	48824											
HELZ	9931	hgsc.bcm.edu	37	17	65163789	65163789	+	Silent	SNP	A	A	T			TCGA-WN-A9G9-01A-12D-A36X-10	TCGA-WN-A9G9-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e78e2342-adb4-4c7b-96ae-4e2ccb668d49	394f018a-b0e0-40a9-afd2-2a1a4f552485	g.chr17:65163789A>T	ENST00000358691.5	-	14	1720	c.1554T>A	c.(1552-1554)tcT>tcA	p.S518S	HELZ_ENST00000580168.1_Silent_p.S518S	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	518						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)					AAGTATCTTCAGAAAGTGTTT	0.428																																																0													112	100	103					17																	65163789		1862	4115	5977	SO:0001819	synonymous_variant	9931			D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"Zinc fingers, CCCH-type domain containing"	16878	protein-coding gene	gene with protein product	"down-regulated in human cancers"	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.1554T>A	chr17.hg19:g.65163789A>T			I6L9H4	Silent	SNP	ENST00000358691.5	hg19	CCDS42374.1																																																																																				0.428	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		T	65163789	A	T	65163789	2	4	814	1	0	0	0	0	0	0	0	1	7051	175	7	5		5	HELZ	17	65163789	Silent	SNP	A	TCGA-WN-A9G9-01A-12D-A36X-10	2114030	65163789	16031421	53	48825											
USH1G	124590	hgsc.bcm.edu	37	17	72915897	72915897	+	Missense_Mutation	SNP	C	C	T			TCGA-WN-A9G9-01A-12D-A36X-10	TCGA-WN-A9G9-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e78e2342-adb4-4c7b-96ae-4e2ccb668d49	394f018a-b0e0-40a9-afd2-2a1a4f552485	g.chr17:72915897C>T	ENST00000319642.1	-	2	1216	c.1034G>A	c.(1033-1035)cGg>cAg	p.R345Q		NM_001282489.1|NM_173477.2	NP_001269418.1|NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	345					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)					GCTCTGCAGCCGACCCCGCGG	0.672																																																0													34	42	39					17																	72915897		2202	4293	6495	SO:0001583	missense	124590			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.1034G>A	chr17.hg19:g.72915897C>T	ENSP00000320076:p.Arg345Gln		Q8N251	Missense_Mutation	SNP	ENST00000319642.1	hg19	CCDS32725.1	.	.	.	.	.	.	.	.	.	.	C	9.720	1.159540	0.21454	.	.	ENSG00000182040	ENST00000319642	T	0.70631	-0.5	4.34	4.34	0.51931	.	0.065307	0.64402	D	0.000009	T	0.53012	0.1770	L	0.34521	1.04	0.46499	D	0.999071	P	0.44006	0.824	B	0.27887	0.084	T	0.56842	-0.7912	10	0.20046	T	0.44	-24.1946	17.0851	0.86609	0.0:1.0:0.0:0.0	.	345	Q495M9	USH1G_HUMAN	Q	345	ENSP00000320076:R345Q	ENSP00000320076:R345Q	R	-	2	0	USH1G	70427492	1.000000	0.71417	0.999000	0.59377	0.901000	0.52897	1.950000	0.40323	2.275000	0.75901	0.555000	0.69702	CGG		0.672	USH1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443676.1	NM_173477		T	72915897	C	T	72915897	3	4	814	1	0	0	0	0	1	0	0	0	17040	652	23	1	359	1	USH1G	17	72915897	Missense_Mutation	SNP	C	TCGA-WN-A9G9-01A-12D-A36X-10	7752108	72915897	8279313	54	48826											
ABCA7	10347	hgsc.bcm.edu	37	19	1054009	1054009	+	Silent	SNP	C	C	T			TCGA-WN-A9G9-01A-12D-A36X-10	TCGA-WN-A9G9-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e78e2342-adb4-4c7b-96ae-4e2ccb668d49	394f018a-b0e0-40a9-afd2-2a1a4f552485	g.chr19:1054009C>T	ENST00000263094.6	+	26	3708	c.3477C>T	c.(3475-3477)ggC>ggT	p.G1159G	ABCA7_ENST00000435683.2_Silent_p.G1021G|ABCA7_ENST00000433129.1_Silent_p.G1159G	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1159					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)		CTGCAGATGGCAGCTGCGGGC	0.592																																																0													75	85	82					19																	1054009		2203	4300	6503	SO:0001819	synonymous_variant	10347			AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"ATP binding cassette transporters / subfamily A"	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.3477C>T	chr19.hg19:g.1054009C>T			Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Silent	SNP	ENST00000263094.6	hg19	CCDS12055.1																																																																																				0.592	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		T	1054009	C	T	1054009	2	4	814	1	0	0	0	0	0	0	0	1	37	697	25	2		2	ABCA7	19	1054009	Silent	SNP	C	TCGA-WN-A9G9-01A-12D-A36X-10		1054009	58074974	55	48827											
COL5A3	50509	hgsc.bcm.edu	37	19	10112281	10112281	+	Silent	SNP	A	A	G			TCGA-WN-A9G9-01A-12D-A36X-10	TCGA-WN-A9G9-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e78e2342-adb4-4c7b-96ae-4e2ccb668d49	394f018a-b0e0-40a9-afd2-2a1a4f552485	g.chr19:10112281A>G	ENST00000264828.3	-	8	1114	c.1029T>C	c.(1027-1029)gaT>gaC	p.D343D		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	343	Nonhelical 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)			CTCCTTCTTCATCCTCCCTGG	0.542											OREG0025228	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													103	99	100					19																	10112281		2203	4300	6503	SO:0001819	synonymous_variant	50509			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.1029T>C	chr19.hg19:g.10112281A>G		662	Q9NZQ6	Silent	SNP	ENST00000264828.3	hg19	CCDS12222.1																																																																																				0.542	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		G	10112281	A	G	10112281	2	3	814	1	0	0	0	0	0	0	0	1	3700	214	8	3		3	COL5A3	19	10112281	Silent	SNP	A	TCGA-WN-A9G9-01A-12D-A36X-10	9058272	10112281	49016702	56	48828											
RYR1	6261	hgsc.bcm.edu	37	19	38997149	38997149	+	Silent	SNP	G	G	A			TCGA-WN-A9G9-01A-12D-A36X-10	TCGA-WN-A9G9-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e78e2342-adb4-4c7b-96ae-4e2ccb668d49	394f018a-b0e0-40a9-afd2-2a1a4f552485	g.chr19:38997149G>A	ENST00000359596.3	+	56	8655	c.8655G>A	c.(8653-8655)acG>acA	p.T2885T	RYR1_ENST00000355481.4_Silent_p.T2885T|RYR1_ENST00000360985.3_Silent_p.T2885T			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2885	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)	p.T2885T(1)		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)	ACCACAACACGTGGGGACGGA	0.587																																																1	Substitution - coding silent(1)	lung(1)											61	59	59					19																	38997149		2203	4300	6503	SO:0001819	synonymous_variant	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.8655G>A	chr19.hg19:g.38997149G>A			Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	hg19	CCDS33011.1																																																																																				0.587	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			A	38997149	G	A	38997149	2	1	814	1	0	0	0	0	0	0	0	1	13774	1132	40	1		1	RYR1	19	38997149	Silent	SNP	G	TCGA-WN-A9G9-01A-12D-A36X-10	28884868	38997149	20131834	57	48829											
NUMBL	9253	hgsc.bcm.edu	37	19	41192843	41192843	+	Missense_Mutation	SNP	G	G	T			TCGA-WN-A9G9-01A-12D-A36X-10	TCGA-WN-A9G9-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e78e2342-adb4-4c7b-96ae-4e2ccb668d49	394f018a-b0e0-40a9-afd2-2a1a4f552485	g.chr19:41192843G>T	ENST00000252891.4	-	2	249	c.82C>A	c.(82-84)Ccc>Acc	p.P28T	NUMBL_ENST00000540131.1_Intron|NUMBL_ENST00000598779.1_Intron|NUMBL_ENST00000599594.1_5'UTR	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	28					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)			GTTTCTGGGGGCCCCGGGGCC	0.672																																																0													3	4	4					19																	41192843		1692	3271	4963	SO:0001583	missense	9253			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.82C>A	chr19.hg19:g.41192843G>T	ENSP00000252891:p.Pro28Thr		Q7Z4J9	Missense_Mutation	SNP	ENST00000252891.4	hg19	CCDS12561.1	.	.	.	.	.	.	.	.	.	.	G	19.52	3.843968	0.71488	.	.	ENSG00000105245	ENST00000252891	T	0.54279	0.58	4.48	4.48	0.54585	.	0.369326	0.19810	N	0.105553	T	0.30103	0.0754	N	0.08118	0	0.80722	D	1	P;P	0.38395	0.629;0.629	B;B	0.33568	0.166;0.166	T	0.17592	-1.0364	10	0.34782	T	0.22	-8.0968	12.5039	0.55970	0.0:0.0:1.0:0.0	.	28;28	A8K033;Q9Y6R0	.;NUMBL_HUMAN	T	28	ENSP00000252891:P28T	ENSP00000252891:P28T	P	-	1	0	NUMBL	45884683	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	2.611000	0.46334	2.335000	0.79485	0.297000	0.19635	CCC		0.672	NUMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462749.2	NM_004756		T	41192843	G	T	41192843	3	4	814	1	0	0	0	0	1	0	0	0	10754	1203	42	4	1783	4	NUMBL	19	41192843	Missense_Mutation	SNP	G	TCGA-WN-A9G9-01A-12D-A36X-10	2195694	41192843	17936140	58	48830											
ZNF226	7769	hgsc.bcm.edu	37	19	44680079	44680102	+	In_Frame_Del	DEL	AAATCTTATAGACCCAATGATTAT	AAATCTTATAGACCCAATGATTAT	-	rs376461816|rs371556470|rs533087898	byFrequency	TCGA-WN-A9G9-01A-12D-A36X-10	TCGA-WN-A9G9-10A-01D-A370-10	AAATCTTATAGACCCAATGATTAT	AAATCTTATAGACCCAATGATTAT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e78e2342-adb4-4c7b-96ae-4e2ccb668d49	394f018a-b0e0-40a9-afd2-2a1a4f552485	g.chr19:44680079_44680102delAAATCTTATAGACCCAATGATTAT	ENST00000590089.1	+	7	1031_1054	c.664_687delAAATCTTATAGACCCAATGATTAT	c.(664-687)aaatcttatagacccaatgattatdel	p.KSYRPNDY222del	ZNF226_ENST00000454662.2_In_Frame_Del_p.KSYRPNDY222del|ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000337433.5_In_Frame_Del_p.KSYRPNDY222del			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)						Prostate(69;0.0352)|all_neural(266;0.202)				CAAAAGTGAAAAATCTTATAGACCCAATGATTATGAAAAAGACA	0.339																																					Pancreas(115;581 1665 13228 19278 50070)											0																																										SO:0001651	inframe_deletion	7769			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.664_687delAAATCTTATAGACCCAATGATTAT	chr19.hg19:g.44680079_44680102delAAATCTTATAGACCCAATGATTAT	ENSP00000465121:p.Lys222_Tyr229del		Q8WWE6|Q96TE6|Q9NS44	In_Frame_Del	DEL	ENST00000590089.1	hg19	CCDS46102.1																																																																																				0.339	ZNF226-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460712.1			-	44680102	AAATCTTATAGACCCAATGATTAT	-	44680079	7	5	814	1	0	1	0	1	0	0	0	0	17785	15	1	0	732	0	ZNF226	19	44680079	In_Frame_Del	DEL	AAATCTTATAGACCCAATGATTAT	TCGA-WN-A9G9-01A-12D-A36X-10	3487236	44680079	14448904	59	48831											
GEMIN7	79760	hgsc.bcm.edu	37	19	45593461	45593461	+	Missense_Mutation	SNP	G	G	T			TCGA-WN-A9G9-01A-12D-A36X-10	TCGA-WN-A9G9-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e78e2342-adb4-4c7b-96ae-4e2ccb668d49	394f018a-b0e0-40a9-afd2-2a1a4f552485	g.chr19:45593461G>T	ENST00000270257.4	+	3	336	c.89G>T	c.(88-90)cGc>cTc	p.R30L	PPP1R37_ENST00000221462.4_5'Flank|GEMIN7_ENST00000391951.2_Missense_Mutation_p.R30L|CTB-179K24.3_ENST00000586556.1_RNA|PPP1R37_ENST00000421905.1_5'Flank|GEMIN7_ENST00000591607.1_Missense_Mutation_p.R30L|GEMIN7_ENST00000591747.1_Missense_Mutation_p.R30L|CTB-179K24.3_ENST00000586744.1_RNA	NM_001007269.1|NM_001007270.1|NM_024707.2	NP_001007270.1|NP_001007271.1|NP_078983.1	Q9H840	GEMI7_HUMAN	gem (nuclear organelle) associated protein 7	30					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				endometrium(1)|kidney(1)|lung(4)|ovary(1)	7		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0131)		CCTGATGGACGCAGAGCCCCC	0.622																																																0													60	63	62					19																	45593461		2203	4300	6503	SO:0001583	missense	79760			AK024018	CCDS12654.1	19q13.32	2008-02-05				ENSG00000142252			20045	protein-coding gene	gene with protein product		607419				12065586	Standard	NM_024707		Approved	FLJ13956	uc002pap.1	Q9H840		ENST00000270257.4:c.89G>T	chr19.hg19:g.45593461G>T	ENSP00000270257:p.Arg30Leu		Q6IA34	Missense_Mutation	SNP	ENST00000270257.4	hg19	CCDS12654.1	.	.	.	.	.	.	.	.	.	.	G	8.438	0.850206	0.17034	.	.	ENSG00000142252	ENST00000270257;ENST00000391951	.	.	.	4.33	3.19	0.36642	.	0.062984	0.64402	D	0.000006	T	0.47040	0.1424	L	0.51422	1.61	0.80722	D	1	B	0.31519	0.327	B	0.30572	0.117	T	0.41324	-0.9515	9	0.26408	T	0.33	0.2346	10.1352	0.42701	0.0:0.332:0.668:0.0	.	30	Q9H840	GEMI7_HUMAN	L	30	.	ENSP00000270257:R30L	R	+	2	0	GEMIN7	50285301	0.995000	0.38212	0.995000	0.50966	0.373000	0.29922	1.634000	0.37123	2.357000	0.79964	0.555000	0.69702	CGC		0.622	GEMIN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457533.1			T	45593461	G	T	45593461	3	4	814	1	0	0	0	0	1	0	0	0	6335	1087	38	4	91	4	GEMIN7	19	45593461	Missense_Mutation	SNP	G	TCGA-WN-A9G9-01A-12D-A36X-10	913382	45593461	13535522	60	48832											
TP53RK	112858	hgsc.bcm.edu	37	20	45315710	45315710	+	3'UTR	SNP	C	C	T			TCGA-WN-A9G9-01A-12D-A36X-10	TCGA-WN-A9G9-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e78e2342-adb4-4c7b-96ae-4e2ccb668d49	394f018a-b0e0-40a9-afd2-2a1a4f552485	g.chr20:45315710C>T	ENST00000372102.3	-	0	474				RP1-28H20.3_ENST00000606362.1_lincRNA			Q96S44	PRPK_HUMAN	TP53 regulating kinase						lipopolysaccharide biosynthetic process (GO:0009103)|protein phosphorylation (GO:0006468)|tRNA processing (GO:0008033)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|hydrolase activity (GO:0016787)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|large_intestine(1)|lung(4)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				GAGCCAAAACCTGCCCAATTG	0.478																																																0													138	152	147					20																	45315710		2203	4300	6503	SO:0001624	3_prime_UTR_variant	112858				CCDS13401.1	20q13.2	2014-05-14	2004-05-10	2004-05-12	ENSG00000172315	ENSG00000172315			16197	protein-coding gene	gene with protein product		608679	"chromosome 20 open reading frame 64"	C20orf64		11546806, 12914926	Standard	NM_033550		Approved	dJ101A2.2, prpk, Nori-2p, BUD32	uc002xsk.3	Q96S44	OTTHUMG00000085887	ENST00000372102.3:c.*83G>A	chr20.hg19:g.45315710C>T			B3KU44|Q3T977|Q5JZ01|Q6NZ60|Q96FM7|Q9NQE6	Silent	SNP	ENST00000372102.3	hg19																																																																																					0.478	TP53RK-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000193688.1	NM_033550		T	45315710	C	T	45315710	1	4	814	0	1	0	0	0	0	0	0	0	16395	680	24	2		2	TP53RK	20	45315710	3'UTR	SNP	C	TCGA-WN-A9G9-01A-12D-A36X-10		45315710	17709810	61	48833											
DOK5	55816	hgsc.bcm.edu	37	20	53205106	53205106	+	Missense_Mutation	SNP	G	G	A			TCGA-WN-A9G9-01A-12D-A36X-10	TCGA-WN-A9G9-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e78e2342-adb4-4c7b-96ae-4e2ccb668d49	394f018a-b0e0-40a9-afd2-2a1a4f552485	g.chr20:53205106G>A	ENST00000262593.5	+	3	609	c.259G>A	c.(259-261)Gat>Aat	p.D87N	DOK5_ENST00000395939.1_5'UTR	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5	87	PH.				MAPK cascade (GO:0000165)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)		receptor signaling protein activity (GO:0005057)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			TTTCAATGACGATACCTCCAA	0.418																																																0													156	150	152					20																	53205106		2203	4300	6503	SO:0001583	missense	55816			AF132732	CCDS13446.1, CCDS13447.1	20q13.2	2013-01-10	2002-11-28	2002-11-29	ENSG00000101134	ENSG00000101134		"Pleckstrin homology (PH) domain containing"	16173	protein-coding gene	gene with protein product		608334	"chromosome 20 open reading frame 180"	C20orf180		11470823	Standard	XM_005260451		Approved	dJ805C22.1	uc002xwy.3	Q9P104	OTTHUMG00000032778	ENST00000262593.5:c.259G>A	chr20.hg19:g.53205106G>A	ENSP00000262593:p.Asp87Asn		Q5T7Y0|Q5TE53|Q8TEW7|Q96H13|Q9BZ24|Q9NQF4|Q9Y411	Missense_Mutation	SNP	ENST00000262593.5	hg19	CCDS13446.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.006212	0.54361	.	.	ENSG00000101134	ENST00000262593	D	0.86164	-2.08	5.61	5.61	0.85477	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.044516	0.85682	D	0.000000	T	0.80571	0.4648	L	0.43152	1.355	0.80722	D	1	P	0.39250	0.665	B	0.24155	0.051	T	0.79374	-0.1830	10	0.25106	T	0.35	-18.4349	18.9956	0.92812	0.0:0.0:1.0:0.0	.	87	Q9P104	DOK5_HUMAN	N	87	ENSP00000262593:D87N	ENSP00000262593:D87N	D	+	1	0	DOK5	52638513	1.000000	0.71417	0.372000	0.25991	0.707000	0.40811	4.931000	0.63469	2.807000	0.96579	0.557000	0.71058	GAT		0.418	DOK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079777.2			A	53205106	G	A	53205106	3	1	814	1	0	0	0	0	1	0	0	0	4702	1058	37	1	269	1	DOK5	20	53205106	Missense_Mutation	SNP	G	TCGA-WN-A9G9-01A-12D-A36X-10	7889396	53205106	9820414	62	48834											
DDX17	11015	hgsc.bcm.edu	37	22	38882032	38882032	+	IGR	SNP	G	G	T			TCGA-WN-A9G9-01A-12D-A36X-10	TCGA-WN-A9G9-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e78e2342-adb4-4c7b-96ae-4e2ccb668d49	394f018a-b0e0-40a9-afd2-2a1a4f552485	g.chr22:38882032G>T	ENST00000216014.4	+	0	1728				DDX17_ENST00000396821.3_Missense_Mutation_p.P702T|DDX17_ENST00000381633.3_Missense_Mutation_p.P623T|DDX17_ENST00000444597.1_Missense_Mutation_p.P152T	NM_006855.2	NP_006846.1	O43731	ERD23_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein retention in ER lumen (GO:0006621)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ER retention sequence binding (GO:0046923)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13	Melanoma(58;0.0286)					GCTCCCGGAGGCTGTGCAAAC	0.547																																					Ovarian(11;103 529 24120 28493 32980)											0													170	154	160					22																	38882032		2203	4300	6503	SO:0001628	intergenic_variant	10521			AL035081	CCDS13972.1, CCDS46705.1	22q13	2008-05-02			ENSG00000100196	ENSG00000100196			6306	protein-coding gene	gene with protein product							Standard	NM_006855		Approved		uc003avu.3	O43731	OTTHUMG00000153520		chr22.hg19:g.38882032G>T			A8K7T7|B8ZZ26|O95557|Q4V750|Q4V767|Q53FP4|Q53GK1	Missense_Mutation	SNP	ENST00000216014.4	hg19	CCDS13972.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.756221	0.49362	.	.	ENSG00000100201	ENST00000396821;ENST00000381633;ENST00000415748;ENST00000444597;ENST00000403230;ENST00000404499	T;T;T	0.27104	1.71;1.73;1.69	5.42	5.42	0.78866	.	0.214763	0.37577	N	0.002024	T	0.37019	0.0988	N	0.24115	0.695	0.58432	D	0.999996	P;P;D	0.71674	0.798;0.872;0.998	B;P;D	0.64687	0.284;0.476;0.928	T	0.08889	-1.0700	10	0.36615	T	0.2	-9.9176	19.2201	0.93793	0.0:0.0:1.0:0.0	.	704;700;154	Q59F66;Q92841-4;Q9UQL5	.;.;.	T	702;623;154;152;700;704	ENSP00000380033:P702T;ENSP00000371046:P623T;ENSP00000385536:P700T	ENSP00000371046:P623T	P	-	1	0	DDX17	37211978	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.900000	0.75687	2.524000	0.85096	0.655000	0.94253	CCT		0.547	KDELR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331474.1			T	38882032	G	T	38882032	1	4	814	0	1	0	0	0	0	0	0	0	4346	1203	42	4		4	DDX17	22	38882032	IGR	SNP	G	TCGA-WN-A9G9-01A-12D-A36X-10		38882032	12422534	63	48835											
RBM10	8241	hgsc.bcm.edu	37	X	47044733	47044733	+	Missense_Mutation	SNP	G	G	C			TCGA-WN-A9G9-01A-12D-A36X-10	TCGA-WN-A9G9-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e78e2342-adb4-4c7b-96ae-4e2ccb668d49	394f018a-b0e0-40a9-afd2-2a1a4f552485	g.chrX:47044733G>C	ENST00000377604.3	+	19	2875	c.2133G>C	c.(2131-2133)atG>atC	p.M711I	RBM10_ENST00000345781.6_Missense_Mutation_p.M634I|RBM10_ENST00000329236.7_Missense_Mutation_p.M633I	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	711					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						ACACCAGCATGGATCTCCCGA	0.632																																					Melanoma(171;120 2705 19495 39241)											0													37	34	35					X																	47044733		2203	4300	6503	SO:0001583	missense	8241			U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"Zinc fingers, RAN-binding domain containing", "G patch domain containing", "RNA binding motif (RRM) containing"	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.2133G>C	chrX.hg19:g.47044733G>C	ENSP00000366829:p.Met711Ile		C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Missense_Mutation	SNP	ENST00000377604.3	hg19	CCDS14274.1	.	.	.	.	.	.	.	.	.	.	G	8.375	0.836295	0.16891	.	.	ENSG00000182872	ENST00000377604;ENST00000329236;ENST00000345781	T;T;T	0.18174	2.91;2.23;2.5	5.63	5.63	0.86233	.	0.213638	0.43579	D	0.000543	T	0.16514	0.0397	L	0.48642	1.525	0.32547	N	0.532888	B;B;B;B;B	0.06786	0.001;0.001;0.0;0.0;0.0	B;B;B;B;B	0.10450	0.003;0.005;0.005;0.002;0.002	T	0.10776	-1.0615	10	0.17369	T	0.5	-11.0981	14.1672	0.65486	0.0:0.0:1.0:0.0	.	634;776;710;633;711	P98175-3;Q7Z3D7;P98175-2;P98175-4;P98175	.;.;.;.;RBM10_HUMAN	I	711;633;634	ENSP00000366829:M711I;ENSP00000328848:M633I;ENSP00000329659:M634I	ENSP00000328848:M633I	M	+	3	0	RBM10	46929677	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.567000	0.53813	2.509000	0.84616	0.600000	0.82982	ATG		0.632	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	NM_005676		C	47044733	G	C	47044733	3	2	814	1	0	0	0	0	1	0	0	0	13117	1348	47	4	2203	4	RBM10	23	47044733	Missense_Mutation	SNP	G	TCGA-WN-A9G9-01A-12D-A36X-10		47044733	108225827	64	48836											
PRAMEF1	65121	hgsc.bcm.edu	37	1	12854245	12854246	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr1:12854245_12854246insAA	ENST00000332296.7	+	3	572_573	c.469_470insAA	c.(469-471)gaafs	p.E157fs	PRAMEF1_ENST00000400814.3_5'Flank	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	157					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)		CTGCCTCAAGGAAATACCCCAG	0.495																																																0																																										SO:0001589	frameshift_variant	65121			AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"-"	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.470_471dupAA	chr1.hg19:g.12854246_12854247dupAA	ENSP00000332134:p.Glu157fs		Q9UQP2	Frame_Shift_Ins	INS	ENST00000332296.7	hg19	CCDS148.1																																																																																				0.495	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		AA	12854246	-	AA	12854245	7	5	815	1	0	1	1	0	0	0	0	0	12430	1175	41	0	475	0	PRAMEF1	1	12854245	Frame_Shift_Ins	INS	-	TCGA-WN-AB4C-01A-11D-A42J-10		12854245	236396376	1	48837											
PRAMEF13	400736	hgsc.bcm.edu	37	1	13449601	13449601	+	Frame_Shift_Del	DEL	T	T	-			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr1:13449601delT	ENST00000376132.3	-	3	927	c.825delA	c.(823-825)aaafs	p.K275fs		NM_001024661.1	NP_001019832.1	Q5VWM6	PRA13_HUMAN	PRAME family member 13	275					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)|large_intestine(1)|lung(3)|skin(2)	7	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)		AGGTGATCAATTTTATTTTAA	0.458																																																0																																										SO:0001589	frameshift_variant	400736					1p36.21	2013-01-17			ENSG00000204495			"-"	13262	protein-coding gene	gene with protein product							Standard	NG_005159		Approved	OTTHUMG00000008034	uc010obi.1	Q5VWM6	OTTHUMG00000008034	ENST00000376132.3:c.825delA	chr1.hg19:g.13449601delT	ENSP00000365302:p.Lys275fs			Frame_Shift_Del	DEL	ENST00000376132.3	hg19	CCDS41257.1																																																																																				0.458	PRAMEF13-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022040.1	XM_375688		-	13449601	T	-	13449601	7	5	815	1	0	1	0	1	0	0	0	0	12434	1490	52	0	607	0	PRAMEF13	1	13449601	Frame_Shift_Del	DEL	T	TCGA-WN-AB4C-01A-11D-A42J-10	595356	13449601	235801020	2	48838											
WDTC1	23038	hgsc.bcm.edu	37	1	27631607	27631607	+	Nonsense_Mutation	SNP	C	C	T			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr1:27631607C>T	ENST00000319394.3	+	15	2294	c.1759C>T	c.(1759-1761)Cag>Tag	p.Q587*	WDTC1_ENST00000361771.3_Nonsense_Mutation_p.Q586*	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	587					cellular chemical homeostasis (GO:0055082)|cellular response to insulin stimulus (GO:0032869)|glucose metabolic process (GO:0006006)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell size (GO:0008361)	cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)	p.Q586*(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		CAACTGCCTGCAGCCACACCC	0.597																																																1	Substitution - Nonsense(1)	endometrium(1)											101	73	82					1																	27631607		2203	4300	6503	SO:0001587	stop_gained	23038			AK023778	CCDS296.1, CCDS60044.1	1p35.3	2013-01-11			ENSG00000142784	ENSG00000142784		"DDB1 and CUL4 associated factors", "WD repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29175	protein-coding gene	gene with protein product	"adipose homolog (Drosophila)", "DDB1 and CUL4 associated factor 9"					12717455, 19238144	Standard	NM_015023		Approved	KIAA1037, ADP, DCAF9	uc009vst.3	Q8N5D0	OTTHUMG00000004273	ENST00000319394.3:c.1759C>T	chr1.hg19:g.27631607C>T	ENSP00000317971:p.Gln587*		D3DPL5|Q5SSC5|Q9NV87|Q9UPW4	Nonsense_Mutation	SNP	ENST00000319394.3	hg19		.	.	.	.	.	.	.	.	.	.	C	42	9.774571	0.99260	.	.	ENSG00000142784	ENST00000319394;ENST00000361771	.	.	.	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	17.0891	0.86618	0.0:1.0:0.0:0.0	.	.	.	.	X	587;586	.	ENSP00000317971:Q587X	Q	+	1	0	WDTC1	27504194	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.589000	0.67523	2.581000	0.87130	0.455000	0.32223	CAG		0.597	WDTC1-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015023		T	27631607	C	T	27631607	4	4	815	1	0	0	0	0	0	1	0	0	17347	711	25	2	1810	2	WDTC1	1	27631607	Nonsense_Mutation	SNP	C	TCGA-WN-AB4C-01A-11D-A42J-10	14182006	27631607	221619014	3	48839											
PHACTR4	65979	hgsc.bcm.edu	37	1	28792196	28792196	+	Splice_Site	SNP	G	G	A			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr1:28792196G>A	ENST00000373839.3	+	5	533	c.272G>A	c.(271-273)gGt>gAt	p.G91D	PHACTR4_ENST00000373836.3_Splice_Site_p.G101D|PHACTR4_ENST00000493669.1_3'UTR	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	91					actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-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;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		CACCTTGCAGGTGGTGAGGAT	0.408																																																0													133	127	129					1																	28792196		1913	4126	6039	SO:0001630	splice_region_variant	65979			AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"Phosphatase and actin regulators"	25793	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 124"	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.272-1G>A	chr1.hg19:g.28792196G>A			A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Missense_Mutation	SNP	ENST00000373839.3	hg19	CCDS41293.1	.	.	.	.	.	.	.	.	.	.	G	0.368	-0.935524	0.02340	.	.	ENSG00000204138	ENST00000373839;ENST00000373836;ENST00000373838	T;T	0.35421	1.31;1.31	5.11	1.1	0.20463	.	0.374471	0.29684	N	0.011468	T	0.17238	0.0414	N	0.17082	0.46	0.24318	N	0.995057	B;B;B	0.14805	0.011;0.007;0.011	B;B;B	0.16722	0.016;0.004;0.01	T	0.17961	-1.0352	9	.	.	.	.	4.5085	0.11899	0.3516:0.1562:0.4922:0.0	.	101;91;75	Q8IZ21-2;Q8IZ21;Q8IZ21-3	.;PHAR4_HUMAN;.	D	91;101;90	ENSP00000362945:G91D;ENSP00000362942:G101D	.	G	+	2	0	PHACTR4	28664783	0.981000	0.34729	0.336000	0.25522	0.672000	0.39443	1.242000	0.32755	-0.049000	0.13379	0.561000	0.74099	GGT		0.408	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009868.4	NM_023923	Missense_Mutation	A	28792196	G	A	28792196	5	1	815	1	0	0	0	0	0	0	1	0	11814	1275	44	2	336	2	PHACTR4	1	28792196	Splice_Site	SNP	G	TCGA-WN-AB4C-01A-11D-A42J-10	1160589	28792196	220458425	4	48840											
CSMD2	114784	hgsc.bcm.edu	37	1	34008360	34008360	+	Silent	SNP	C	C	A	rs199932348		TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr1:34008360C>A	ENST00000373381.4	-	58	9413	c.9237G>T	c.(9235-9237)tcG>tcT	p.S3079S		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3053	Sushi 24. {ECO:0000255|PROSITE- ProRule:PRU00302}.					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)				TACCATTGACCGAGCAGTGAC	0.592																																																0													64	53	57					1																	34008360		2203	4300	6503	SO:0001819	synonymous_variant	114784			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.9237G>T	chr1.hg19:g.34008360C>A			B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373381.4	hg19																																																																																					0.592	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		A	34008360	C	A	34008360	2	1	815	1	0	0	0	0	0	0	0	1	3947	639	23	4		4	CSMD2	1	34008360	Silent	SNP	C	TCGA-WN-AB4C-01A-11D-A42J-10	5216164	34008360	215242261	5	48841											
EPS15	2060	hgsc.bcm.edu	37	1	51929372	51929372	+	Silent	SNP	A	A	T			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr1:51929372A>T	ENST00000371733.3	-	7	570	c.474T>A	c.(472-474)tcT>tcA	p.S158S	EPS15_ENST00000371730.2_Silent_p.S158S|RP11-253A20.1_ENST00000424246.1_RNA	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	158	EH 2. {ECO:0000255|PROSITE- ProRule:PRU00077}.|Interaction with DAB2. {ECO:0000250}.				cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|protein transport (GO:0015031)|vesicle organization (GO:0016050)	AP-2 adaptor complex (GO:0030122)|ciliary membrane (GO:0060170)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|polyubiquitin binding (GO:0031593)	p.0?(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						CAGGTAACTTAGAGTTGAGCA	0.333			T	MLL	ALL																																		Dom	yes		1	1p32	2060	epidermal growth factor receptor pathway substrate 15 (AF1p)		L	1	Whole gene deletion(1)	central_nervous_system(1)											68	66	67					1																	51929372		2203	4300	6503	SO:0001819	synonymous_variant	2060			BC054006	CCDS557.1	1p32	2013-01-10			ENSG00000085832	ENSG00000085832		"EF-hand domain containing"	3419	protein-coding gene	gene with protein product		600051				8183552	Standard	NM_001159969		Approved	AF-1P, MLLT5	uc001csq.1	P42566	OTTHUMG00000008192	ENST00000371733.3:c.474T>A	chr1.hg19:g.51929372A>T			B2R8J7|D3DPJ2|Q5SRH4	Silent	SNP	ENST00000371733.3	hg19	CCDS557.1																																																																																				0.333	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022422.1	NM_001981		T	51929372	A	T	51929372	2	4	815	1	0	0	0	0	0	0	0	1	5194	407	15	5		5	EPS15	1	51929372	Silent	SNP	A	TCGA-WN-AB4C-01A-11D-A42J-10	17921012	51929372	197321249	6	48842											
TMED5	50999	hgsc.bcm.edu	37	1	93621899	93621899	+	Silent	SNP	A	A	G			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr1:93621899A>G	ENST00000370282.3	-	3	914	c.429T>C	c.(427-429)atT>atC	p.I143I	TMED5_ENST00000479918.1_Silent_p.I143I|TMED5_ENST00000370280.1_Silent_p.I143I|TMED5_ENST00000483033.1_5'UTR	NM_016040.4	NP_057124.3	Q9Y3A6	TMED5_HUMAN	transmembrane emp24 protein transport domain containing 5	143					Golgi ribbon formation (GO:0090161)|protein transport (GO:0015031)	cis-Golgi network (GO:0005801)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6		all_lung(203;0.0223)|Lung NSC(277;0.071)|Melanoma(281;0.147)|Glioma(108;0.188)		all cancers(265;0.00108)|GBM - Glioblastoma multiforme(16;0.00407)|Epithelial(280;0.0797)		CTGTGCCAGTAATATATTTCT	0.348																																																0													180	171	174					1																	93621899		2203	4300	6503	SO:0001819	synonymous_variant	50999			BC070051	CCDS743.1, CCDS53342.1	1p22.1	2013-09-19			ENSG00000117500	ENSG00000117500			24251	protein-coding gene	gene with protein product						10810093	Standard	NM_016040		Approved	CGI-100	uc001dpn.3	Q9Y3A6	OTTHUMG00000010162	ENST00000370282.3:c.429T>C	chr1.hg19:g.93621899A>G			B1AKT4|B2R703|D3DT38|Q96AX8	Silent	SNP	ENST00000370282.3	hg19	CCDS743.1																																																																																				0.348	TMED5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028076.3	NM_016040		G	93621899	A	G	93621899	2	3	815	1	0	0	0	0	0	0	0	1	16012	358	13	3		3	TMED5	1	93621899	Silent	SNP	A	TCGA-WN-AB4C-01A-11D-A42J-10	41692527	93621899	155628722	7	48843											
FMO5	2330	hgsc.bcm.edu	37	1	146658726	146658726	+	Missense_Mutation	SNP	A	A	G			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr1:146658726A>G	ENST00000254090.4	-	9	1743	c.1355T>C	c.(1354-1356)cTg>cCg	p.L452P	FMO5_ENST00000441068.2_Intron|RP11-337C18.8_ENST00000606757.1_RNA|FMO5_ENST00000369272.3_3'UTR|RP11-337C18.8_ENST00000607149.1_RNA|RP11-337C18.10_ENST00000606856.1_RNA	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	452						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)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					AGTGAAGGCCAGAGACAGCAG	0.537																																																0													86	81	83					1																	146658726		2203	4300	6503	SO:0001583	missense	2330			Z47553	CCDS926.1, CCDS44209.1, CCDS44210.1	1q21.1	2011-08-04			ENSG00000131781	ENSG00000131781			3773	protein-coding gene	gene with protein product		603957				8786146, 9119381	Standard	NM_001461		Approved		uc001epi.2	P49326	OTTHUMG00000014607	ENST00000254090.4:c.1355T>C	chr1.hg19:g.146658726A>G	ENSP00000254090:p.Leu452Pro		B2RBG1|C9JJD1|Q8IV22	Missense_Mutation	SNP	ENST00000254090.4	hg19	CCDS926.1	.	.	.	.	.	.	.	.	.	.	.	21.1	4.096346	0.76870	.	.	ENSG00000131781	ENST00000254090	T	0.61742	0.08	5.8	4.67	0.58626	.	0.078821	0.52532	D	0.000071	T	0.76535	0.4001	H	0.95187	3.635	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.82372	-0.0490	10	0.87932	D	0	-2.7964	10.1529	0.42805	0.9212:0.0:0.0788:0.0	.	452	P49326	FMO5_HUMAN	P	452	ENSP00000254090:L452P	ENSP00000254090:L452P	L	-	2	0	FMO5	145125350	1.000000	0.71417	0.967000	0.41034	0.997000	0.91878	8.981000	0.93465	1.011000	0.39340	0.533000	0.62120	CTG		0.537	FMO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040373.2	NM_001461		G	146658726	A	G	146658726	3	3	815	1	0	0	0	0	1	0	0	0	5960	188	7	3	393	3	FMO5	1	146658726	Missense_Mutation	SNP	A	TCGA-WN-AB4C-01A-11D-A42J-10	53036827	146658726	102591895	8	48844											
ATP1B1	481	hgsc.bcm.edu	37	1	169096621	169096621	+	Missense_Mutation	SNP	A	A	G			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr1:169096621A>G	ENST00000367816.1	+	5	1071	c.542A>G	c.(541-543)aAc>aGc	p.N181S	ATP1B1_ENST00000367813.3_Missense_Mutation_p.N173S|ATP1B1_ENST00000367815.4_Missense_Mutation_p.N181S|ATP1B1_ENST00000499679.3_Missense_Mutation_p.N125S			P05026	AT1B1_HUMAN	ATPase, Na+/K+ transporting, beta 1 polypeptide	181					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)					ATAAAGCTCAACCGAGTTCTA	0.358																																																0													89	87	88					1																	169096621		2203	4300	6503	SO:0001583	missense	481			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.542A>G	chr1.hg19:g.169096621A>G	ENSP00000356790:p.Asn181Ser		Q5TGZ3	Missense_Mutation	SNP	ENST00000367816.1	hg19	CCDS1276.1	.	.	.	.	.	.	.	.	.	.	A	28.5	4.929242	0.92389	.	.	ENSG00000143153	ENST00000367816;ENST00000367815;ENST00000499679;ENST00000367813	T;T;T;T	0.36699	1.24;1.24;1.24;1.24	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.67021	0.2849	H	0.95328	3.655	0.54753	D	0.999982	D	0.89917	1.0	D	0.78314	0.991	T	0.78003	-0.2374	9	0.66056	D	0.02	-8.8621	16.5446	0.84426	1.0:0.0:0.0:0.0	.	181	P05026	AT1B1_HUMAN	S	181;181;125;173	ENSP00000356790:N181S;ENSP00000356789:N181S;ENSP00000423450:N125S;ENSP00000356787:N173S	ENSP00000356787:N173S	N	+	2	0	ATP1B1	167363245	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	8.600000	0.90860	2.311000	0.77944	0.533000	0.62120	AAC		0.358	ATP1B1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083696.1			G	169096621	A	G	169096621	3	3	815	1	0	0	0	0	1	0	0	0	1132	43	2	3	556	3	ATP1B1	1	169096621	Missense_Mutation	SNP	A	TCGA-WN-AB4C-01A-11D-A42J-10	22437895	169096621	80154000	9	48845											
PPP1R12B	4660	hgsc.bcm.edu	37	1	202464697	202464697	+	Splice_Site	SNP	G	G	C			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr1:202464697G>C	ENST00000608999.1	+	17	2488		c.e17-1		PPP1R12B_ENST00000391959.3_Splice_Site|PPP1R12B_ENST00000367270.4_Splice_Site|PPP1R12B_ENST00000336894.4_Splice_Site|PPP1R12B_ENST00000290419.5_Splice_Site	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B						G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			TCTCTGGCCAGAGAATGAAGA	0.463																																																0													51	52	52					1																	202464697		2203	4299	6502	SO:0001630	splice_region_variant	4660			AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	7619	protein-coding gene	gene with protein product	"myosin phosphatase regulatory subunit", "myosin phosphatase, target subunit 2"	603768	"protein phosphatase 1, regulatory (inhibitor) subunit 12B"	MYPT2		9570949	Standard	NM_002481		Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.2336-1G>C	chr1.hg19:g.202464697G>C			A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Splice_Site	SNP	ENST00000608999.1	hg19	CCDS1426.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.710994	0.68730	.	.	ENSG00000077157	ENST00000406302;ENST00000336894;ENST00000391959;ENST00000367270	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0413	0.86490	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PPP1R12B	200731320	1.000000	0.71417	0.983000	0.44433	0.715000	0.41141	4.311000	0.59147	2.828000	0.97474	0.655000	0.94253	.		0.463	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000099166.3	NM_032105	Intron	C	202464697	G	C	202464697	5	2	815	1	0	0	0	0	0	0	1	0	12360	956	33	4	2491	4	PPP1R12B	1	202464697	Splice_Site	SNP	G	TCGA-WN-AB4C-01A-11D-A42J-10	33368076	202464697	46785924	10	48846											
FCAMR	83953	hgsc.bcm.edu	37	1	207131928	207131928	+	Missense_Mutation	SNP	A	A	T			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr1:207131928A>T	ENST00000324852.4	-	8	2141	c.1667T>A	c.(1666-1668)aTg>aAg	p.M556K	FCAMR_ENST00000450945.2_3'UTR|FCAMR_ENST00000486178.1_5'UTR|FCAMR_ENST00000400962.3_3'UTR	NM_001170631.1	NP_001164102.1	Q8WWV6	FCAMR_HUMAN	Fc receptor, IgA, IgM, high affinity	511					immune system process (GO:0002376)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						ATCCTGGAGCATCTTTCTTTC	0.537																																					Ovarian(199;1883 2142 16966 44409 45154)											0													109	100	103					1																	207131928		692	1591	2283	SO:0001583	missense	83953			AF354295	CCDS41460.1, CCDS53468.1	1q32.1	2013-01-14			ENSG00000162897	ENSG00000162897		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	24692	protein-coding gene	gene with protein product		605484				11779189	Standard	NM_001122979		Approved	FKSG87, FCA/MR, CD351	uc001hfa.4	Q8WWV6	OTTHUMG00000036579	ENST00000324852.4:c.1667T>A	chr1.hg19:g.207131928A>T	ENSP00000316491:p.Met556Lys		Q32M82|Q8WWV5|Q96SA2	Missense_Mutation	SNP	ENST00000324852.4	hg19	CCDS53468.1	.	.	.	.	.	.	.	.	.	.	A	15.87	2.960491	0.53400	.	.	ENSG00000162897	ENST00000324852;ENST00000367087	T	0.05139	3.49	4.73	-0.538	0.11868	.	0.830835	0.10440	N	0.674376	T	0.04679	0.0127	L	0.48642	1.525	0.09310	N	1	P;P	0.39551	0.483;0.678	B;B	0.33690	0.118;0.168	T	0.38001	-0.9681	10	0.87932	D	0	0.0976	0.44	0.00484	0.4307:0.186:0.2041:0.1791	.	531;511	D2KTA8;Q8WWV6	.;FCAMR_HUMAN	K	556;514	ENSP00000316491:M556K	ENSP00000316491:M556K	M	-	2	0	FCAMR	205198551	0.000000	0.05858	0.001000	0.08648	0.564000	0.35744	-0.017000	0.12590	0.266000	0.21894	0.459000	0.35465	ATG		0.537	FCAMR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088969.2	NM_032029		T	207131928	A	T	207131928	3	4	815	1	0	0	0	0	1	0	0	0	5774	217	8	5	70	5	FCAMR	1	207131928	Missense_Mutation	SNP	A	TCGA-WN-AB4C-01A-11D-A42J-10	4667231	207131928	42118693	11	48847											
CDC42BPA	8476	hgsc.bcm.edu	37	1	227182594	227182594	+	Nonsense_Mutation	SNP	G	G	T			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr1:227182594G>T	ENST00000366769.3	-	35	6249	c.4958C>A	c.(4957-4959)tCa>tAa	p.S1653*	RP5-1087E8.3_ENST00000433837.1_RNA|CDC42BPA_ENST00000366764.2_Nonsense_Mutation_p.S1625*|CDC42BPA_ENST00000366766.2_Nonsense_Mutation_p.S1688*|CDC42BPA_ENST00000334218.5_Nonsense_Mutation_p.S1715*|CDC42BPA_ENST00000535525.1_Nonsense_Mutation_p.S1633*|CDC42BPA_ENST00000366765.3_Nonsense_Mutation_p.S1666*|CDC42BPA_ENST00000366767.3_Nonsense_Mutation_p.S1572*	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)				AGAGCCCTCTGACGGGGAGGG	0.582																																																0													93	91	92					1																	227182594		2203	4300	6503	SO:0001587	stop_gained	8476			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.4958C>A	chr1.hg19:g.227182594G>T	ENSP00000355731:p.Ser1653*			Nonsense_Mutation	SNP	ENST00000366769.3	hg19	CCDS1558.1	.	.	.	.	.	.	.	.	.	.	g	43	9.953409	0.99303	.	.	ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000535525;ENST00000366765	.	.	.	5.09	5.09	0.68999	.	0.132428	0.52532	D	0.000065	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	.	18.5149	0.90933	0.0:0.0:1.0:0.0	.	.	.	.	X	1653;1572;1715;1688;1625;1633;1666	.	ENSP00000335341:S1715X	S	-	2	0	CDC42BPA	225249217	1.000000	0.71417	0.100000	0.21137	0.917000	0.54804	7.341000	0.79300	2.367000	0.80283	0.651000	0.88453	TCA		0.582	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826		T	227182594	G	T	227182594	4	4	815	1	0	0	0	0	0	1	0	0	3074	1294	45	4	209	4	CDC42BPA	1	227182594	Nonsense_Mutation	SNP	G	TCGA-WN-AB4C-01A-11D-A42J-10	20050666	227182594	22068027	12	48848											
OBSCN	84033	hgsc.bcm.edu	37	1	228482711	228482711	+	Missense_Mutation	SNP	C	C	A			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr1:228482711C>A	ENST00000422127.1	+	43	11670	c.11626C>A	c.(11626-11628)Cag>Aag	p.Q3876K	OBSCN_ENST00000366709.4_Missense_Mutation_p.Q995K|OBSCN_ENST00000366707.4_Missense_Mutation_p.Q995K|RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000359599.6_Missense_Mutation_p.Q2723K|OBSCN_ENST00000284548.11_Missense_Mutation_p.Q3876K|OBSCN_ENST00000570156.2_Missense_Mutation_p.Q4305K	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3876	Ig-like 39.				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)				TGTGTGCGGGCAGGAGAGGAC	0.582																																																0													120	122	121					1																	228482711		2147	4242	6389	SO:0001583	missense	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.11626C>A	chr1.hg19:g.228482711C>A	ENSP00000409493:p.Gln3876Lys		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	hg19	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.163675	0.57476	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000359599	T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21	5.01	4.06	0.47325	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.406049	0.23692	N	0.045504	T	0.44307	0.1287	N	0.20304	0.555	0.30201	N	0.798588	B;B	0.23854	0.092;0.059	B;B	0.25987	0.065;0.018	T	0.35871	-0.9771	10	0.06494	T	0.89	.	8.1272	0.31005	0.1337:0.6027:0.2636:0.0	.	3876;3876	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	K	3876;3876;995;995;2723	ENSP00000284548:Q3876K;ENSP00000409493:Q3876K;ENSP00000355668:Q995K;ENSP00000355670:Q995K;ENSP00000352613:Q2723K	ENSP00000284548:Q3876K	Q	+	1	0	OBSCN	226549334	0.000000	0.05858	1.000000	0.80357	0.794000	0.44872	0.274000	0.18680	2.611000	0.88343	0.563000	0.77884	CAG		0.582	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		A	228482711	C	A	228482711	3	1	815	1	0	0	0	0	1	0	0	0	10814	711	25	4	11792	4	OBSCN	1	228482711	Missense_Mutation	SNP	C	TCGA-WN-AB4C-01A-11D-A42J-10	1300117	228482711	20767910	13	48849											
BIRC6	57448	hgsc.bcm.edu	37	2	32740159	32740160	+	Frame_Shift_Ins	INS	-	-	TC			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr2:32740159_32740160insTC	ENST00000421745.2	+	55	10805_10806	c.10671_10672insTC	c.(10672-10674)tctfs	p.S3558fs		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3558					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)					CAAACTATTTTTCTTTGCTCAT	0.416																																					Pancreas(94;175 1509 16028 18060 45422)											0																																										SO:0001589	frameshift_variant	57448			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"Baculoviral IAP repeat containing", "Ubiquitin-conjugating enzymes E2"	13516	protein-coding gene	gene with protein product	"apollon"	605638	"baculoviral IAP repeat-containing 6"			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.10672_10673dupTC	chr2.hg19:g.32740160_32740161dupTC	ENSP00000393596:p.Ser3558fs		Q9ULD1	Frame_Shift_Ins	INS	ENST00000421745.2	hg19	CCDS33175.2																																																																																				0.416	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		TC	32740160	-	TC	32740159	7	5	815	1	0	1	1	0	0	0	0	0	1438	1838	64	0	10889	0	BIRC6	2	32740159	Frame_Shift_Ins	INS	-	TCGA-WN-AB4C-01A-11D-A42J-10		32740159	210459214	14	48850											
AAK1	22848	hgsc.bcm.edu	37	2	69732772	69732772	+	Missense_Mutation	SNP	T	T	A			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr2:69732772T>A	ENST00000409085.4	-	16	2574	c.2198A>T	c.(2197-2199)gAg>gTg	p.E733V	AAK1_ENST00000406297.3_Missense_Mutation_p.E733V|AAK1_ENST00000409068.1_Intron	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	733					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						GATCAAACTCTCAGCTGAGCC	0.493																																																0													78	78	78					2																	69732772		1895	4114	6009	SO:0001583	missense	22848			AB028971	CCDS1893.2	2p13.3	2012-07-10			ENSG00000115977	ENSG00000115977			19679	protein-coding gene	gene with protein product						11877461, 12471243	Standard	NM_014911		Approved	KIAA1048, DKFZp686K16132	uc002sfp.2	Q2M2I8	OTTHUMG00000129648	ENST00000409085.4:c.2198A>T	chr2.hg19:g.69732772T>A	ENSP00000386456:p.Glu733Val		Q4ZFZ3|Q53RX6|Q9UPV4	Missense_Mutation	SNP	ENST00000409085.4	hg19	CCDS1893.2	.	.	.	.	.	.	.	.	.	.	T	18.85	3.711046	0.68730	.	.	ENSG00000115977	ENST00000409085;ENST00000406297	T;T	0.36340	1.26;1.26	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.49558	0.1564	L	0.34521	1.04	0.49915	D	0.999833	D;D;P	0.76494	0.998;0.999;0.492	D;D;B	0.80764	0.987;0.994;0.219	T	0.51601	-0.8685	10	0.72032	D	0.01	-22.5886	14.7584	0.69588	0.0:0.0:0.0:1.0	.	733;733;733	B7ZLC4;Q2M2I8-2;Q2M2I8	.;.;AAK1_HUMAN	V	733	ENSP00000386456:E733V;ENSP00000385181:E733V	ENSP00000385181:E733V	E	-	2	0	AAK1	69586276	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.833000	0.55790	2.161000	0.67846	0.533000	0.62120	GAG		0.493	AAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251847.4	NM_014911		A	69732772	T	A	69732772	3	1	815	1	0	0	0	0	1	0	0	0	16	1551	54	5	715	5	AAK1	2	69732772	Missense_Mutation	SNP	T	TCGA-WN-AB4C-01A-11D-A42J-10	36992613	69732772	173466601	15	48851											
FAM136A	84908	hgsc.bcm.edu	37	2	70529069	70529069	+	Missense_Mutation	SNP	G	G	C			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr2:70529069G>C	ENST00000037869.3	-	1	153	c.75C>G	c.(73-75)atC>atG	p.I25M	AC022201.5_ENST00000445084.1_RNA|FAM136A_ENST00000450256.1_Missense_Mutation_p.I25M|FAM136A_ENST00000430566.1_Missense_Mutation_p.I25M	NM_032822.2	NP_116211.2	Q96C01	F136A_HUMAN	family with sequence similarity 136, member A	25						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						GCATCTTCCGGATGTTCTCTC	0.687											OREG0014676	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													62	52	56					2																	70529069		2203	4299	6502	SO:0001583	missense	84908			BC014975	CCDS1904.1	2p14	2014-02-12	2007-07-10		ENSG00000035141	ENSG00000035141			25911	protein-coding gene	gene with protein product	"hypothetical protein FLJ14668"					12477932	Standard	NM_032822		Approved	FLJ14668	uc002sgq.4	Q96C01	OTTHUMG00000129668	ENST00000037869.3:c.75C>G	chr2.hg19:g.70529069G>C	ENSP00000037869:p.Ile25Met	1123	Q96SS3	Missense_Mutation	SNP	ENST00000037869.3	hg19	CCDS1904.1	.	.	.	.	.	.	.	.	.	.	G	13.70	2.315072	0.40996	.	.	ENSG00000035141	ENST00000037869;ENST00000450256;ENST00000430566;ENST00000438759	.	.	.	3.81	3.81	0.43845	.	0.000000	0.85682	D	0.000000	T	0.65512	0.2698	M	0.86178	2.8	0.25158	N	0.990371	D	0.64830	0.994	D	0.65773	0.938	T	0.56998	-0.7886	9	0.40728	T	0.16	.	8.7433	0.34571	0.1086:0.0:0.8914:0.0	.	25	Q96C01	F136A_HUMAN	M	25;25;25;10	.	ENSP00000037869:I25M	I	-	3	3	FAM136A	70382573	1.000000	0.71417	1.000000	0.80357	0.625000	0.37756	5.161000	0.64935	2.124000	0.65301	0.195000	0.17529	ATC		0.687	FAM136A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251869.2	NM_032822		C	70529069	G	C	70529069	3	2	815	1	0	0	0	0	1	0	0	0	5452	1164	41	4	353	4	FAM136A	2	70529069	Missense_Mutation	SNP	G	TCGA-WN-AB4C-01A-11D-A42J-10	796297	70529069	172670304	16	48852											
RTKN	6242	hgsc.bcm.edu	37	2	74657138	74657138	+	Missense_Mutation	SNP	A	A	G			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr2:74657138A>G	ENST00000233330.6	-	6	739	c.422T>C	c.(421-423)cTg>cCg	p.L141P	RTKN_ENST00000272430.5_Missense_Mutation_p.L191P|RTKN_ENST00000305557.5_Missense_Mutation_p.L178P|RTKN_ENST00000484453.1_5'Flank	NM_001015056.1	NP_001015056.1			rhotekin											endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						CTCTAACCGCAGTTCAAAGTC	0.637																																																0													44	50	48					2																	74657138		2177	4287	6464	SO:0001583	missense	6242			AF049227	CCDS1941.1, CCDS33226.1, CCDS42699.1	2p13.1	2013-01-10			ENSG00000114993	ENSG00000114993		"Pleckstrin homology (PH) domain containing"	10466	protein-coding gene	gene with protein product		602288				9073523, 10940294	Standard	XM_005264478		Approved	B5	uc002sle.3	Q9BST9	OTTHUMG00000129955	ENST00000233330.6:c.422T>C	chr2.hg19:g.74657138A>G	ENSP00000233330:p.Leu141Pro			Missense_Mutation	SNP	ENST00000233330.6	hg19	CCDS42699.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.446605	0.84101	.	.	ENSG00000114993	ENST00000305557;ENST00000272430;ENST00000233330	T;T;T	0.50548	0.74;0.74;0.74	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.66557	0.2801	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.70450	-0.4868	10	0.87932	D	0	.	12.7821	0.57483	1.0:0.0:0.0:0.0	.	191;178	Q9BST9;Q9BST9-2	RTKN_HUMAN;.	P	178;191;141	ENSP00000305298:L178P;ENSP00000272430:L191P;ENSP00000233330:L141P	ENSP00000233330:L141P	L	-	2	0	RTKN	74510646	1.000000	0.71417	0.985000	0.45067	0.858000	0.48976	8.586000	0.90806	2.117000	0.64856	0.459000	0.35465	CTG		0.637	RTKN-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000328236.3	NM_001015055		G	74657138	A	G	74657138	3	3	815	1	0	0	0	0	1	0	0	0	13728	188	7	3	1147	3	RTKN	2	74657138	Missense_Mutation	SNP	A	TCGA-WN-AB4C-01A-11D-A42J-10	4128069	74657138	168542235	17	48853											
TTN	7273	hgsc.bcm.edu	37	2	179482094	179482094	+	Missense_Mutation	SNP	C	C	G			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr2:179482094C>G	ENST00000591111.1	-	204	43019	c.42795G>C	c.(42793-42795)tgG>tgC	p.W14265C	RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000604956.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.W13338C|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.W6966C|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.W7033C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.W15906C|TTN_ENST00000460472.2_Missense_Mutation_p.W6841C			Q8WZ42	TITIN_HUMAN	titin	14265	Fibronectin type-III 3. {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)			TGCAACGAATCCAATTATCTT	0.378																																																0													104	92	96					2																	179482094		1853	4092	5945	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.42795G>C	chr2.hg19:g.179482094C>G	ENSP00000465570:p.Trp14265Cys		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	hg19		.	.	.	.	.	.	.	.	.	.	C	12.62	1.992752	0.35131	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	5.93	5.93	0.95920	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76793	0.4037	M	0.90425	3.115	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	0.80369	-0.1411	9	0.87932	D	0	.	20.3507	0.98813	0.0:1.0:0.0:0.0	.	6841;6966;7033;14265	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	13338;6841;7033;6966;6841	ENSP00000343764:W13338C;ENSP00000434586:W6841C;ENSP00000340554:W7033C;ENSP00000352154:W6966C	ENSP00000340554:W7033C	W	-	3	0	TTN	179190339	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.770000	0.85390	2.808000	0.96608	0.655000	0.94253	TGG		0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		G	179482094	C	G	179482094	3	3	815	1	0	0	0	0	1	0	0	0	16740	856	30	4	60411	4	TTN	2	179482094	Missense_Mutation	SNP	C	TCGA-WN-AB4C-01A-11D-A42J-10	104824956	179482094	63717279	18	48854											
UGT1A1	54578	hgsc.bcm.edu	37	2	234675730	234675741	+	In_Frame_Del	DEL	CTCTTTGGGATC	CTCTTTGGGATC	-	rs62625011		TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	CTCTTTGGGATC	CTCTTTGGGATC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr2:234675730_234675741delCTCTTTGGGATC	ENST00000305139.6	+	2	1051_1062	c.912_923delCTCTTTGGGATC	c.(910-924)ttctctttgggatca>tta	p.304_308FSLGS>L	UGT1A8_ENST00000305208.5_In_Frame_Del_p.305_309FSLGS>L|UGT1A6_ENST00000373424.1_In_Frame_Del_p.37_41FSLGS>L|UGT1A1_ENST00000608381.1_In_Frame_Del_p.306_310FSLGS>L|UGT1A5_ENST00000373414.3_In_Frame_Del_p.306_310FSLGS>L|UGT1A1_ENST00000360418.3_In_Frame_Del_p.305_309FSLGS>L|UGT1A1_ENST00000609637.1_In_Frame_Del_p.302_306FSLGS>L|UGT1A9_ENST00000354728.4_In_Frame_Del_p.302_306FSLGS>L|UGT1A4_ENST00000373409.3_In_Frame_Del_p.306_310FSLGS>L|UGT1A10_ENST00000344644.5_In_Frame_Del_p.302_306FSLGS>L|UGT1A1_ENST00000609767.1_In_Frame_Del_p.306_310FSLGS>L|UGT1A1_ENST00000373450.4_In_Frame_Del_p.302_306FSLGS>L|UGT1A10_ENST00000373445.1_In_Frame_Del_p.302_306FSLGS>L|UGT1A3_ENST00000482026.1_In_Frame_Del_p.306_310FSLGS>L|UGT1A6_ENST00000406651.1_In_Frame_Del_p.37_41FSLGS>L|UGT1A7_ENST00000373426.3_In_Frame_Del_p.302_306FSLGS>L|UGT1A1_ENST00000608383.1_In_Frame_Del_p.305_309FSLGS>L	NM_001072.3	NP_001063.2	P19224	UD16_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A6	304					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)	TTGTGGTTTTCTCTTTGGGATCAATGGTCTCA	0.368																																																0			GRCh37	CM941351	UGT1A1	M	rs62625011																																			SO:0001651	inframe_deletion	54579			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.912_923delCTCTTTGGGATC	chr2.hg19:g.234675730_234675741delCTCTTTGGGATC	ENSP00000303174:p.Phe304_Ser308delinsLeu		A6NKK6|B8K289|Q96TE7	In_Frame_Del	DEL	ENST00000305139.6	hg19	CCDS2507.1																																																																																				0.368	UGT1A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130988.1	NM_205862		-	234675741	CTCTTTGGGATC	-	234675730	7	5	815	1	0	1	0	1	0	0	0	0	16949	912	32	0	921	0	UGT1A1	2	234675730	In_Frame_Del	DEL	CTCTTTGGGATC	TCGA-WN-AB4C-01A-11D-A42J-10	55193636	234675730	8523643	19	48855											
DNAH12	201625	hgsc.bcm.edu	37	3	57419487	57419487	+	Missense_Mutation	SNP	G	G	A			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr3:57419487G>A	ENST00000351747.2	-	31	4835	c.4655C>T	c.(4654-4656)aCt>aTt	p.T1552I		NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	1552	AAA 2. {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						ATTCATTAAAGTTAGCGTATC	0.363																																																0													177	157	163					3																	57419487		692	1591	2283	SO:0001583	missense	201625			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.4655C>T	chr3.hg19:g.57419487G>A	ENSP00000295937:p.Thr1552Ile		A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Missense_Mutation	SNP	ENST00000351747.2	hg19		.	.	.	.	.	.	.	.	.	.	G	6.016	0.371430	0.11409	.	.	ENSG00000174844	ENST00000351747;ENST00000495027	T;T	0.26223	1.91;1.75	5.73	2.83	0.33086	ATPase, dynein-related, AAA domain (1);	.	.	.	.	T	0.42562	0.1208	M	0.85041	2.73	0.46222	D	0.998934	P	0.38335	0.627	P	0.46076	0.503	T	0.41910	-0.9482	9	0.45353	T	0.12	.	13.9721	0.64247	0.0:0.2366:0.6588:0.1046	.	1552	Q6ZR08	DYH12_HUMAN	I	1552;1575	ENSP00000295937:T1552I;ENSP00000418137:T1575I	ENSP00000295937:T1552I	T	-	2	0	DNAH12	57394527	1.000000	0.71417	0.550000	0.28217	0.030000	0.12068	3.845000	0.55880	0.348000	0.23949	-0.795000	0.03280	ACT		0.363	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_178504		A	57419487	G	A	57419487	3	1	815	1	0	0	0	0	1	0	0	0	4602	1029	36	2	4739	2	DNAH12	3	57419487	Missense_Mutation	SNP	G	TCGA-WN-AB4C-01A-11D-A42J-10		57419487	140602943	20	48856											
DNAJC13	23317	hgsc.bcm.edu	37	3	132165336	132165336	+	Missense_Mutation	SNP	C	C	T			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr3:132165336C>T	ENST00000260818.6	+	3	334	c.86C>T	c.(85-87)tCa>tTa	p.S29L	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	29					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						CGTGTCTTTTCAGTTGGAACT	0.303																																																0													84	81	82					3																	132165336		2203	4300	6503	SO:0001583	missense	23317			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.86C>T	chr3.hg19:g.132165336C>T	ENSP00000260818:p.Ser29Leu		Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	hg19	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.970699	0.92919	.	.	ENSG00000138246	ENST00000260818	T	0.19669	2.13	5.53	5.53	0.82687	.	0.075189	0.56097	D	0.000030	T	0.28830	0.0715	M	0.67953	2.075	0.80722	D	1	B;P	0.43750	0.206;0.816	B;B	0.39068	0.063;0.289	T	0.12785	-1.0534	10	0.87932	D	0	.	19.4758	0.94987	0.0:1.0:0.0:0.0	.	29;29	A7E2Y5;O75165	.;DJC13_HUMAN	L	29	ENSP00000260818:S29L	ENSP00000260818:S29L	S	+	2	0	DNAJC13	133648026	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	7.818000	0.86416	2.607000	0.88179	0.563000	0.77884	TCA		0.303	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		T	132165336	C	T	132165336	3	4	815	1	0	0	0	0	1	0	0	0	4634	838	29	2	92	2	DNAJC13	3	132165336	Missense_Mutation	SNP	C	TCGA-WN-AB4C-01A-11D-A42J-10	74745849	132165336	65857094	21	48857											
PSMD2	5708	hgsc.bcm.edu	37	3	184020504	184020504	+	Missense_Mutation	SNP	C	C	A			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr3:184020504C>A	ENST00000310118.4	+	7	1459	c.901C>A	c.(901-903)Cat>Aat	p.H301N	PSMD2_ENST00000439383.1_Missense_Mutation_p.H171N|PSMD2_ENST00000435761.1_Missense_Mutation_p.H142N|EIF2B5_ENST00000444495.1_Intron	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	301					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 protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)	p.H301Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	GCTAGGCCGGCATGGGGTGTT	0.517																																					Colon(24;313 636 6917 9932 15554)											1	Substitution - Missense(1)	prostate(1)											148	146	147					3																	184020504		2203	4300	6503	SO:0001583	missense	5708			AK095245	CCDS3258.1, CCDS63853.1, CCDS63854.1	3q27.3	2008-05-22			ENSG00000175166	ENSG00000175166		"Proteasome (prosome, macropain) subunits"	9559	protein-coding gene	gene with protein product		606223				8774743	Standard	NM_002808		Approved	S2, P97, TRAP2, MGC14274, Rpn1	uc003fnn.1	Q13200	OTTHUMG00000156796	ENST00000310118.4:c.901C>A	chr3.hg19:g.184020504C>A	ENSP00000310129:p.His301Asn		B4DX07|B4DXY1|E7EW34|E9PCS3|Q12932|Q15321|Q53XQ4|Q96I12	Missense_Mutation	SNP	ENST00000310118.4	hg19	CCDS3258.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.574928	0.65878	.	.	ENSG00000175166	ENST00000310118;ENST00000538096;ENST00000435761;ENST00000439383	T;T;T	0.32272	2.09;1.46;1.46	5.16	5.16	0.70880	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.36110	0.0955	M	0.64170	1.965	0.80722	D	1	P;B	0.36789	0.57;0.118	B;B	0.35114	0.196;0.054	T	0.33548	-0.9864	10	0.72032	D	0.01	-18.9005	19.2107	0.93753	0.0:1.0:0.0:0.0	.	142;301	E9PCS3;Q13200	.;PSMD2_HUMAN	N	301;293;142;171	ENSP00000310129:H301N;ENSP00000402618:H142N;ENSP00000416028:H171N	ENSP00000310129:H301N	H	+	1	0	PSMD2	185503198	1.000000	0.71417	0.994000	0.49952	0.953000	0.61014	7.207000	0.77899	2.845000	0.97973	0.603000	0.83216	CAT		0.517	PSMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345843.1	NM_002808		A	184020504	C	A	184020504	3	1	815	1	0	0	0	0	1	0	0	0	12703	710	25	4	927	4	PSMD2	3	184020504	Missense_Mutation	SNP	C	TCGA-WN-AB4C-01A-11D-A42J-10	51855168	184020504	14001926	22	48858											
KNG1	3827	hgsc.bcm.edu	37	3	186459563	186459563	+	Missense_Mutation	SNP	G	G	T			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr3:186459563G>T	ENST00000265023.4	+	10	1590	c.1378G>T	c.(1378-1380)Ggc>Tgc	p.G460C	RP11-573D15.8_ENST00000599314.1_RNA|RP11-573D15.8_ENST00000596632.1_RNA|RP11-573D15.8_ENST00000609652.1_RNA|RP11-573D15.8_ENST00000354642.2_RNA|KNG1_ENST00000447445.1_Intron|RP11-573D15.8_ENST00000609726.1_RNA|RP11-573D15.8_ENST00000596329.1_RNA|KNG1_ENST00000287611.2_Intron	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	460	His-rich.				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)		AAGAGGACATGGCCTTGGCCA	0.478																																																0													77	74	75					3																	186459563		2079	4216	6295	SO:0001583	missense	3827				CCDS3281.1, CCDS43183.1, CCDS54695.1	3q27.3	2014-05-15	2004-05-21	2004-05-26	ENSG00000113889	ENSG00000113889		"Endogenous ligands"	6383	protein-coding gene	gene with protein product	"alpha-2-thiol proteinase inhibitor", "bradykinin"	612358	"kininogen"	KNG, BDK		1733668	Standard	NM_000893		Approved	BK	uc011bsa.2	P01042	OTTHUMG00000150348	ENST00000265023.4:c.1378G>T	chr3.hg19:g.186459563G>T	ENSP00000265023:p.Gly460Cys		A8K474|B2RCR2|C9JEX1|P01043|Q53EQ0|Q6PAU9|Q7M4P1	Missense_Mutation	SNP	ENST00000265023.4	hg19	CCDS43183.1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.991379	0.35131	.	.	ENSG00000113889	ENST00000265023	T	0.76186	-1.0	5.85	3.96	0.45880	.	0.134445	0.34750	N	0.003704	T	0.68686	0.3028	M	0.76574	2.34	0.80722	D	1	B	0.28783	0.222	B	0.25759	0.063	T	0.66122	-0.6002	9	.	.	.	-2.8329	7.0488	0.25061	0.0857:0.0:0.744:0.1703	.	460	P01042	KNG1_HUMAN	C	460	ENSP00000265023:G460C	.	G	+	1	0	KNG1	187942257	0.999000	0.42202	0.470000	0.27216	0.065000	0.16274	3.350000	0.52224	1.636000	0.50526	-0.136000	0.14681	GGC		0.478	KNG1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317738.1	NM_001102416		T	186459563	G	T	186459563	3	4	815	1	0	0	0	0	1	0	0	0	8429	1348	47	4	1416	4	KNG1	3	186459563	Missense_Mutation	SNP	G	TCGA-WN-AB4C-01A-11D-A42J-10	2439059	186459563	11562867	23	48859											
FBXL5	26234	hgsc.bcm.edu	37	4	15638133	15638133	+	Silent	SNP	A	A	G			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr4:15638133A>G	ENST00000341285.3	-	5	874	c.750T>C	c.(748-750)ccT>ccC	p.P250P	FBXL5_ENST00000382358.4_Silent_p.P124P|FBXL5_ENST00000412094.2_Silent_p.P233P	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	250					iron ion homeostasis (GO:0055072)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	iron ion binding (GO:0005506)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						cccaatgaacagggtaaagat	0.373																																																0													76	65	69					4																	15638133		2203	4300	6503	SO:0001819	synonymous_variant	26234			AF174591	CCDS3415.1, CCDS54745.1	4p15.33	2011-06-09			ENSG00000118564	ENSG00000118564		"F-boxes / Leucine-rich repeats"	13602	protein-coding gene	gene with protein product		605655				10531035	Standard	NM_012161		Approved	FBL4, FBL5, FLR1	uc003goc.2	Q9UKA1	OTTHUMG00000097097	ENST00000341285.3:c.750T>C	chr4.hg19:g.15638133A>G			A8MSK4|B4DIB5|Q4W5A8|Q8NHP3|Q9NXN2|Q9P0I0|Q9P0X5|Q9UJT7|Q9UKC8	Silent	SNP	ENST00000341285.3	hg19	CCDS3415.1	.	.	.	.	.	.	.	.	.	.	A	8.941	0.965827	0.18583	.	.	ENSG00000118564	ENST00000513163	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	T	0.62768	0.2455	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61950	-0.6957	4	.	.	.	-26.0422	10.7035	0.45942	0.8576:0.0:0.0:0.1424	.	.	.	.	R	171	.	.	C	-	1	0	FBXL5	15247231	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.656000	0.37355	2.121000	0.65114	0.482000	0.46254	TGT		0.373	FBXL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214235.2			G	15638133	A	G	15638133	2	3	815	1	0	0	0	0	0	0	0	1	5724	175	7	3		3	FBXL5	4	15638133	Silent	SNP	A	TCGA-WN-AB4C-01A-11D-A42J-10		15638133	175516143	24	48860											
SLC34A2	10568	hgsc.bcm.edu	37	4	25667838	25667838	+	Missense_Mutation	SNP	G	G	C			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr4:25667838G>C	ENST00000382051.3	+	5	518	c.468G>C	c.(466-468)ttG>ttC	p.L156F	SLC34A2_ENST00000504570.1_Missense_Mutation_p.L155F|SLC34A2_ENST00000503434.1_Missense_Mutation_p.L155F|SLC34A2_ENST00000510033.2_3'UTR	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	156					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)				TGACCGTCTTGGTGCAGAGCT	0.542			T	ROS1	NSCLC																																		Dom	yes		4	4p15.2	10568	"solute carrier family 34 (sodium phosphate), member 2"		E	0													133	123	126					4																	25667838		2203	4300	6503	SO:0001583	missense	10568			AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"Solute carriers"	11020	protein-coding gene	gene with protein product		604217	"solute carrier family 34 (sodium phosphate), member 2"			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.468G>C	chr4.hg19:g.25667838G>C	ENSP00000371483:p.Leu156Phe		A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Missense_Mutation	SNP	ENST00000382051.3	hg19	CCDS3435.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.554825	0.45487	.	.	ENSG00000157765	ENST00000513204;ENST00000504570;ENST00000382051;ENST00000503434;ENST00000507530	D;D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42;-2.42	5.22	3.48	0.39840	.	0.417009	0.25890	N	0.027622	D	0.95557	0.8556	H	0.96269	3.795	0.39001	D	0.95935	P;D	0.53619	0.952;0.961	P;P	0.62649	0.807;0.905	D	0.95577	0.8643	10	0.66056	D	0.02	-6.4871	12.5273	0.56093	0.0:0.1133:0.6559:0.2308	.	155;156	O95436-2;O95436	.;NPT2B_HUMAN	F	155;155;156;155;156	ENSP00000423038:L155F;ENSP00000425501:L155F;ENSP00000371483:L156F;ENSP00000423021:L155F;ENSP00000424266:L156F	ENSP00000371483:L156F	L	+	3	2	SLC34A2	25276936	1.000000	0.71417	0.820000	0.32676	0.765000	0.43378	2.164000	0.42387	0.301000	0.22738	-1.268000	0.01426	TTG		0.542	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424		C	25667838	G	C	25667838	3	2	815	1	0	0	0	0	1	0	0	0	14574	1339	47	4	482	4	SLC34A2	4	25667838	Missense_Mutation	SNP	G	TCGA-WN-AB4C-01A-11D-A42J-10	10029705	25667838	165486438	25	48861											
RNF150	57484	hgsc.bcm.edu	37	4	141868823	141868823	+	Missense_Mutation	SNP	C	C	T			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr4:141868823C>T	ENST00000515673.2	-	4	908	c.875G>A	c.(874-876)cGg>cAg	p.R292Q	RNF150_ENST00000507500.1_Missense_Mutation_p.R292Q|RNF150_ENST00000306799.3_Missense_Mutation_p.R250Q|RNF150_ENST00000379512.2_Missense_Mutation_p.R151Q|RNF150_ENST00000420921.2_Missense_Mutation_p.R151Q|RNF150_ENST00000515057.1_5'UTR			Q9ULK6	RN150_HUMAN	ring finger protein 150	292						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					GGGCAGGATCCGGACAACGTC	0.547																																																0													149	116	127					4																	141868823		2203	4300	6503	SO:0001583	missense	57484			AB033040	CCDS34065.1	4q31.1	2013-01-09			ENSG00000170153	ENSG00000170153		"RING-type (C3HC4) zinc fingers"	23138	protein-coding gene	gene with protein product						10574462	Standard	XM_005263150		Approved	KIAA1214	uc003iio.1	Q9ULK6	OTTHUMG00000161380	ENST00000515673.2:c.875G>A	chr4.hg19:g.141868823C>T	ENSP00000425840:p.Arg292Gln		Q3T1D0|Q6ZNW6	Missense_Mutation	SNP	ENST00000515673.2	hg19	CCDS34065.1	.	.	.	.	.	.	.	.	.	.	C	35	5.493712	0.96339	.	.	ENSG00000170153	ENST00000379512;ENST00000420921;ENST00000306799;ENST00000515673;ENST00000507500;ENST00000506101	T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87	5.95	5.95	0.96441	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, RING-H2-type (1);	0.000000	0.85682	D	0.000000	T	0.72938	0.3523	M	0.90483	3.12	0.80722	D	1	D;D;D	0.89917	0.997;0.986;1.0	D;P;D	0.97110	0.918;0.902;1.0	T	0.77517	-0.2558	10	0.87932	D	0	.	19.1739	0.93594	0.0:1.0:0.0:0.0	.	250;292;292	Q9ULK6-2;Q9ULK6-3;Q9ULK6	.;.;RN150_HUMAN	Q	151;151;250;292;292;123	ENSP00000368827:R151Q;ENSP00000394581:R151Q;ENSP00000304321:R250Q;ENSP00000425840:R292Q;ENSP00000425568:R292Q;ENSP00000425947:R123Q	ENSP00000304321:R250Q	R	-	2	0	RNF150	142088273	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.133000	0.77259	2.827000	0.97445	0.650000	0.86243	CGG		0.547	RNF150-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364739.2	XM_291090		T	141868823	C	T	141868823	3	4	815	1	0	0	0	0	1	0	0	0	13457	652	23	1	457	1	RNF150	4	141868823	Missense_Mutation	SNP	C	TCGA-WN-AB4C-01A-11D-A42J-10	116200985	141868823	49285453	26	48862											
FAT1	2195	hgsc.bcm.edu	37	4	187509944	187509944	+	Nonsense_Mutation	SNP	A	A	T			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr4:187509944A>T	ENST00000441802.2	-	27	13778	c.13569T>A	c.(13567-13569)taT>taA	p.Y4523*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4523					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						AGTGTCTTTGATACCCTGGCG	0.547										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)											0													63	72	69					4																	187509944		2036	4200	6236	SO:0001587	stop_gained	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.13569T>A	chr4.hg19:g.187509944A>T	ENSP00000406229:p.Tyr4523*			Nonsense_Mutation	SNP	ENST00000441802.2	hg19	CCDS47177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	53|53	20.095451|20.095451	0.99927|0.99927	.|.	.|.	ENSG00000083857|ENSG00000083857	ENST00000512772|ENST00000441802;ENST00000260147	.|.	.|.	.|.	5.37|5.37	-2.79|-2.79	0.05841|0.05841	.|.	.|0.240542	.|0.45606	.|D	.|0.000360	T|.	0.34658|.	0.0905|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.33189|.	-0.9878|.	4|.	.|0.02654	.|T	.|1	.|.	13.069|13.069	0.59050|0.59050	0.4573:0.0:0.5427:0.0|0.4573:0.0:0.5427:0.0	.|.	.|.	.|.	.|.	T|X	303|4523;4525	.|.	.|ENSP00000260147:Y4525X	S|Y	-|-	1|3	0|2	FAT1|FAT1	187746938|187746938	0.161000|0.161000	0.22892|0.22892	0.498000|0.498000	0.27564|0.27564	0.191000|0.191000	0.23601|0.23601	0.242000|0.242000	0.18087|0.18087	-0.311000|-0.311000	0.08754|0.08754	0.374000|0.374000	0.22700|0.22700	TCA|TAT		0.547	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		T	187509944	A	T	187509944	4	4	815	1	0	0	0	0	0	1	0	0	5691	340	12	5	201	5	FAT1	4	187509944	Nonsense_Mutation	SNP	A	TCGA-WN-AB4C-01A-11D-A42J-10	45641121	187509944	3644332	27	48863											
CDH12	1010	hgsc.bcm.edu	37	5	22078621	22078621	+	Silent	SNP	G	G	A			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr5:22078621G>A	ENST00000382254.1	-	5	1251	c.165C>T	c.(163-165)ggC>ggT	p.G55G	CDH12_ENST00000522262.1_Silent_p.G55G|CDH12_ENST00000504376.2_Silent_p.G55G	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	55	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						TCCATACCCAGCCACGTTTAA	0.463										HNSCC(59;0.17)																																						0													152	151	151					5																	22078621		2203	4300	6503	SO:0001819	synonymous_variant	1010			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.165C>T	chr5.hg19:g.22078621G>A			B2RBT1|B7Z2U6|Q86UD2	Silent	SNP	ENST00000382254.1	hg19	CCDS3890.1																																																																																				0.463	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		A	22078621	G	A	22078621	2	1	815	1	0	0	0	0	0	0	0	1	3100	958	34	2		2	CDH12	5	22078621	Silent	SNP	G	TCGA-WN-AB4C-01A-11D-A42J-10		22078621	158836639	28	48864											
TNPO1	3842	hgsc.bcm.edu	37	5	72192967	72192968	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr5:72192967_72192968insAG	ENST00000337273.5	+	20	2753_2754	c.2327_2328insAG	c.(2326-2331)ttagagfs	p.LE776fs	TNPO1_ENST00000506351.2_Frame_Shift_Ins_p.LE768fs|TNPO1_ENST00000454282.1_Frame_Shift_Ins_p.LE726fs|TNPO1_ENST00000523768.1_Frame_Shift_Ins_p.LE726fs	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	776					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|protein import into nucleus, translocation (GO:0000060)|RNA metabolic process (GO:0016070)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		AAGACGTTGTTAGAGAATACAG	0.371																																																0																																										SO:0001589	frameshift_variant	3842			U70322	CCDS4016.1, CCDS43329.1	5q13.1	2009-01-12	2004-01-29	2004-01-30	ENSG00000083312	ENSG00000083312		"Importins"	6401	protein-coding gene	gene with protein product	"importin 2"	602901	"karyopherin (importin) beta 2"	KPNB2		8808633, 9144189	Standard	NM_153188		Approved	MIP, TRN, IPO2, MIP1	uc003kci.4	Q92973	OTTHUMG00000100967	ENST00000337273.5:c.2330_2331dupAG	chr5.hg19:g.72192970_72192971dupAG	ENSP00000336712:p.Leu776fs		B4DVC6|Q92957|Q92975	Frame_Shift_Ins	INS	ENST00000337273.5	hg19	CCDS43329.1																																																																																				0.371	TNPO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000218577.3	NM_002270		AG	72192968	-	AG	72192967	7	5	815	1	0	1	1	0	0	0	0	0	16340	1764	61	0	2405	0	TNPO1	5	72192967	Frame_Shift_Ins	INS	-	TCGA-WN-AB4C-01A-11D-A42J-10	50114346	72192967	108722293	29	48865											
AP3B1	8546	hgsc.bcm.edu	37	5	77536710	77536710	+	Missense_Mutation	SNP	C	C	A			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr5:77536710C>A	ENST00000255194.6	-	3	430	c.255G>T	c.(253-255)aaG>aaT	p.K85N	AP3B1_ENST00000519295.1_Missense_Mutation_p.K36N	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	85					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)		TGGCCACATTCTTCACAACAG	0.303									Hermansky-Pudlak syndrome																																							0													115	125	122					5																	77536710		2203	4295	6498	SO:0001583	missense	8546	Familial Cancer Database	HPS, HPS1-8	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.255G>T	chr5.hg19:g.77536710C>A	ENSP00000255194:p.Lys85Asn		E5RJ68|O00580|Q7Z393|Q9HD66	Missense_Mutation	SNP	ENST00000255194.6	hg19	CCDS4041.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.259112	0.80246	.	.	ENSG00000132842	ENST00000255194;ENST00000519295;ENST00000535760	T;T	0.33654	1.4;1.4	5.33	5.33	0.75918	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.57388	0.2050	M	0.72479	2.2	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.57207	-0.7851	10	0.46703	T	0.11	-18.0561	12.3808	0.55305	0.0:0.9228:0.0:0.0772	.	85	O00203	AP3B1_HUMAN	N	85;36;85	ENSP00000255194:K85N;ENSP00000430597:K36N	ENSP00000255194:K85N	K	-	3	2	AP3B1	77572466	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.623000	0.54224	2.489000	0.83994	0.591000	0.81541	AAG		0.303	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000225548.2			A	77536710	C	A	77536710	3	1	815	1	0	0	0	0	1	0	0	0	744	912	32	4	3129	4	AP3B1	5	77536710	Missense_Mutation	SNP	C	TCGA-WN-AB4C-01A-11D-A42J-10	5343743	77536710	103378550	30	48866											
MEGF10	84466	hgsc.bcm.edu	37	5	126705644	126705644	+	Missense_Mutation	SNP	C	C	G			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr5:126705644C>G	ENST00000274473.6	+	6	629	c.362C>G	c.(361-363)cCa>cGa	p.P121R	MEGF10_ENST00000508365.1_Missense_Mutation_p.P121R|MEGF10_ENST00000503335.2_Missense_Mutation_p.P121R|MEGF10_ENST00000418761.2_Missense_Mutation_p.P121R	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	121	EGF-like 1. {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)		TGTATTGCTCCAAACACCTGT	0.473																																																0													194	160	172					5																	126705644		2203	4300	6503	SO:0001583	missense	84466			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.362C>G	chr5.hg19:g.126705644C>G	ENSP00000274473:p.Pro121Arg		Q68DE5|Q8WUL3	Missense_Mutation	SNP	ENST00000274473.6	hg19	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.445120	0.83993	.	.	ENSG00000145794	ENST00000503335;ENST00000508365;ENST00000418761;ENST00000274473	T;T;T;T	0.58210	0.35;0.35;0.35;0.35	5.16	5.16	0.70880	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000001	T	0.80778	0.4688	H	0.94582	3.555	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.84847	0.0811	10	0.45353	T	0.12	-7.4634	18.7442	0.91787	0.0:1.0:0.0:0.0	.	121;121	Q96KG7-2;Q96KG7	.;MEG10_HUMAN	R	121	ENSP00000423354:P121R;ENSP00000423195:P121R;ENSP00000416284:P121R;ENSP00000274473:P121R	ENSP00000274473:P121R	P	+	2	0	MEGF10	126733543	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.800000	0.85949	2.422000	0.82143	0.558000	0.71614	CCA		0.473	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446		G	126705644	C	G	126705644	3	3	815	1	0	0	0	0	1	0	0	0	9462	594	21	4	376	4	MEGF10	5	126705644	Missense_Mutation	SNP	C	TCGA-WN-AB4C-01A-11D-A42J-10	49168934	126705644	54209616	31	48867											
KDM3B	51780	hgsc.bcm.edu	37	5	137760025	137760025	+	Missense_Mutation	SNP	G	G	C			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr5:137760025G>C	ENST00000314358.5	+	16	4434	c.4234G>C	c.(4234-4236)Ggt>Cgt	p.G1412R	KDM3B_ENST00000394866.1_Missense_Mutation_p.G1068R|KDM3B_ENST00000542866.1_Missense_Mutation_p.G444R	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1412					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						TTGGAAGCAAGGTCAGGTAAG	0.488																																																0													85	83	84					5																	137760025		2203	4300	6503	SO:0001583	missense	51780			AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"Chromatin-modifying enzymes / K-demethylases"	1337	protein-coding gene	gene with protein product		609373	"chromosome 5 open reading frame 7", "jumonji domain containing 1B"	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.4234G>C	chr5.hg19:g.137760025G>C	ENSP00000326563:p.Gly1412Arg		A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	ENST00000314358.5	hg19	CCDS34242.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.894733	0.91962	.	.	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866;ENST00000542866	T;T;T	0.72835	-0.69;-0.69;-0.69	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.85965	0.5820	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.87723	0.2574	10	0.72032	D	0.01	-26.8379	19.036	0.92978	0.0:0.0:1.0:0.0	.	1068;1412	Q7LBC6-2;Q7LBC6	.;KDM3B_HUMAN	R	1412;1202;1068;444	ENSP00000326563:G1412R;ENSP00000378335:G1068R;ENSP00000439462:G444R	ENSP00000326563:G1412R	G	+	1	0	KDM3B	137787924	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.869000	0.99810	2.486000	0.83907	0.563000	0.77884	GGT		0.488	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604		C	137760025	G	C	137760025	3	2	815	1	0	0	0	0	1	0	0	0	8129	1000	35	4	4296	4	KDM3B	5	137760025	Missense_Mutation	SNP	G	TCGA-WN-AB4C-01A-11D-A42J-10	11054381	137760025	43155235	32	48868											
FAM71B	153745	hgsc.bcm.edu	37	5	156590429	156590429	+	Missense_Mutation	SNP	C	C	T			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr5:156590429C>T	ENST00000302938.4	-	2	942	c.847G>A	c.(847-849)Gca>Aca	p.A283T		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	283	Ala-rich.					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)			CCTGCTATTGCCACATCTGTT	0.582																																																0													126	104	111					5																	156590429		2203	4300	6503	SO:0001583	missense	153745				CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.847G>A	chr5.hg19:g.156590429C>T	ENSP00000305596:p.Ala283Thr		Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	hg19	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	C	11.10	1.539642	0.27563	.	.	ENSG00000170613	ENST00000302938	T	0.04809	3.55	3.7	1.86	0.25419	.	0.829219	0.10160	N	0.708438	T	0.04770	0.0129	L	0.45137	1.4	0.09310	N	1	B	0.29909	0.261	B	0.22880	0.042	T	0.38373	-0.9664	10	0.48119	T	0.1	-2.3928	6.3492	0.21367	0.0:0.7665:0.0:0.2335	.	283	Q8TC56	FA71B_HUMAN	T	283	ENSP00000305596:A283T	ENSP00000305596:A283T	A	-	1	0	FAM71B	156523007	0.000000	0.05858	0.001000	0.08648	0.066000	0.16364	-0.131000	0.10482	0.506000	0.28125	0.467000	0.42956	GCA		0.582	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		T	156590429	C	T	156590429	3	4	815	1	0	0	0	0	1	0	0	0	5610	739	26	2	974	2	FAM71B	5	156590429	Missense_Mutation	SNP	C	TCGA-WN-AB4C-01A-11D-A42J-10	18830404	156590429	24324831	33	48869											
PECI	10455	hgsc.bcm.edu	37	6	4131018	4131018	+	Missense_Mutation	SNP	G	G	A			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr6:4131018G>A	ENST00000380118.3	-	3	331	c.295C>T	c.(295-297)Ctt>Ttt	p.L99F	C6orf201_ENST00000380175.4_3'UTR|ECI2_ENST00000380125.2_Missense_Mutation_p.L69F|ECI2_ENST00000413766.2_5'UTR|ECI2_ENST00000465828.1_Missense_Mutation_p.L69F|ECI2_ENST00000361538.2_Missense_Mutation_p.L69F			O75521	ECI2_HUMAN	enoyl-CoA delta isomerase 2	99	ACB. {ECO:0000255|PROSITE- ProRule:PRU00573}.				fatty acid catabolic process (GO:0009062)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	dodecenoyl-CoA delta-isomerase activity (GO:0004165)|fatty-acyl-CoA binding (GO:0000062)|receptor binding (GO:0005102)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						AGGCTGCCAAGGGCATTCCAT	0.458																																																0													158	143	148					6																	4131018		2203	4300	6503	SO:0001583	missense	10455			AF069301	CCDS4490.1, CCDS43420.1, CCDS43420.2	6p24.3	2011-03-15	2011-03-15	2011-03-15	ENSG00000198721	ENSG00000198721			14601	protein-coding gene	gene with protein product	"acyl-Coenzyme A binding domain containing 2", " Hepatocellular carcinoma-associated antigen 88"	608024	"peroxisomal D3,D2-enoyl-CoA isomerase"	PECI		10419495	Standard	NM_206836		Approved	ACBD2, DRS1, HCA88	uc003mwf.3	O75521	OTTHUMG00000014158	ENST00000380118.3:c.295C>T	chr6.hg19:g.4131018G>A	ENSP00000369461:p.Leu99Phe		Q5JYK5|Q5JYK7|Q7L124|Q8N0X0|Q9BUE9|Q9H0T9|Q9NQH1|Q9NYH7|Q9UN55	Missense_Mutation	SNP	ENST00000380118.3	hg19	CCDS43420.2	.	.	.	.	.	.	.	.	.	.	G	21.3	4.131222	0.77549	.	.	ENSG00000198721	ENST00000380118;ENST00000380125;ENST00000361538;ENST00000465828;ENST00000495548	T;T;T;T;T	0.26518	1.73;1.73;1.73;1.73;1.73	6.06	5.19	0.71726	FERM/acyl-CoA-binding protein, 3-helical bundle (1);Acyl-CoA-binding protein, ACBP (3);	0.404887	0.25316	N	0.031541	T	0.29126	0.0724	M	0.82433	2.59	0.80722	D	1	B	0.34061	0.436	P	0.45829	0.494	T	0.19192	-1.0313	10	0.54805	T	0.06	.	9.0981	0.36651	0.163:0.0:0.837:0.0	.	99	O75521	ECI2_HUMAN	F	99;69;69;69;146	ENSP00000369461:L99F;ENSP00000369468:L69F;ENSP00000354737:L69F;ENSP00000420309:L69F;ENSP00000417459:L146F	ENSP00000354737:L69F	L	-	1	0	ECI2	4076017	1.000000	0.71417	0.871000	0.34182	0.983000	0.72400	5.373000	0.66162	1.569000	0.49696	0.655000	0.94253	CTT		0.458	ECI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039716.4	NM_006117		A	4131018	G	A	4131018	3	1	815	1	0	0	0	0	1	0	0	0	11718	1000	35	2	921	2	PECI	6	4131018	Missense_Mutation	SNP	G	TCGA-WN-AB4C-01A-11D-A42J-10		4131018	166984049	34	48870											
MRS2	57380	hgsc.bcm.edu	37	6	24405466	24405466	+	Silent	SNP	T	T	C			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr6:24405466T>C	ENST00000378386.3	+	2	354	c.261T>C	c.(259-261)acT>acC	p.T87T	MRS2_ENST00000443868.2_Silent_p.T87T|MRS2_ENST00000378353.1_Silent_p.T87T|MRS2_ENST00000535061.1_Silent_p.T87T|MRS2_ENST00000483634.1_3'UTR|MRS2_ENST00000274747.7_Silent_p.T87T|MRS2_ENST00000543597.1_Intron	NM_020662.2	NP_065713.1	Q9HD23	MRS2_HUMAN	MRS2 magnesium transporter	87						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	magnesium ion transmembrane transporter activity (GO:0015095)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						CAGTATTTACTGTGGTGAGTA	0.423																																																0													118	105	109					6																	24405466		2203	4300	6503	SO:0001819	synonymous_variant	57380			AF288288	CCDS4552.1, CCDS69055.1, CCDS69056.1, CCDS75408.1	6p22.3-p22.1	2013-05-03	2013-05-03	2008-01-18	ENSG00000124532	ENSG00000124532			13785	protein-coding gene	gene with protein product			"MRS2-like, magnesium homeostasis factor (S. cerevisiae)", "MRS2 magnesium homeostasis factor homolog (S. cerevisiae)"	MRS2L			Standard	XM_005249242		Approved		uc003neb.3	Q9HD23	OTTHUMG00000014355	ENST00000378386.3:c.261T>C	chr6.hg19:g.24405466T>C			A8K4U3|B3KNN2|B4DQL2|Q5T3Y1|Q6NTG4|Q96KF8|Q9BVP1	Silent	SNP	ENST00000378386.3	hg19	CCDS4552.1	.	.	.	.	.	.	.	.	.	.	T	10.76	1.442039	0.25900	.	.	ENSG00000124532	ENST00000446191	.	.	.	5.0	2.61	0.31194	.	.	.	.	.	T	0.36166	0.0957	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21381	-1.0247	4	.	.	.	-10.5347	4.7063	0.12851	0.1739:0.1633:0.0:0.6628	.	.	.	.	P	39	.	.	L	+	2	0	MRS2	24513445	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	0.331000	0.19733	0.484000	0.27630	0.533000	0.62120	CTG		0.423	MRS2-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040002.1			C	24405466	T	C	24405466	2	2	815	1	0	0	0	0	0	0	0	1	9853	1567	55	3		3	MRS2	6	24405466	Silent	SNP	T	TCGA-WN-AB4C-01A-11D-A42J-10	20274448	24405466	146709601	35	48871											
SLC25A27	9481	hgsc.bcm.edu	37	6	46626712	46626712	+	Silent	SNP	T	T	A			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr6:46626712T>A	ENST00000371347.5	+	3	564	c.312T>A	c.(310-312)ggT>ggA	p.G104G	SLC25A27_ENST00000604908.1_3'UTR|SLC25A27_ENST00000411689.2_Silent_p.G104G|SLC25A27_ENST00000452689.2_Silent_p.G18G	NM_001204051.1|NM_004277.4	NP_001190980.1|NP_004268.3	O95847	UCP4_HUMAN	solute carrier family 25, member 27	104					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)			ATTCTGGAGGTCGAATGGTCA	0.353																																																0													242	226	231					6																	46626712		1842	4090	5932	SO:0001819	synonymous_variant	9481			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.312T>A	chr6.hg19:g.46626712T>A			F5GWR4|Q5VTS9|Q8N518	Silent	SNP	ENST00000371347.5	hg19	CCDS43470.1																																																																																				0.353	SLC25A27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040791.1	NM_004277		A	46626712	T	A	46626712	2	1	815	1	0	0	0	0	0	0	0	1	14496	1654	58	5		5	SLC25A27	6	46626712	Silent	SNP	T	TCGA-WN-AB4C-01A-11D-A42J-10	22221246	46626712	124488355	36	48872											
CASP8AP2	9994	hgsc.bcm.edu	37	6	90571848	90571848	+	RNA	SNP	G	G	A			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr6:90571848G>A	ENST00000551025.1	+	0	1857									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)		ATAATAGATTGTCTGAGTTTC	0.269																																					Colon(187;1656 2025 17045 31481 39901)											0													25	22	23					6																	90571848		1786	4055	5841			9994			AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"FLICE-associated huge protein"	606880	"CASP8 associated protein 2"			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		chr6.hg19:g.90571848G>A				Silent	SNP	ENST00000551025.1	hg19																																																																																					0.269	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		NM_001137667		A	90571848	G	A	90571848	1	1	815	0	1	0	0	0	0	0	0	0	2680	1368	48	2		2	CASP8AP2	6	90571848	RNA	SNP	G	TCGA-WN-AB4C-01A-11D-A42J-10	43945136	90571848	80543219	37	48873											
L3MBTL3	84456	hgsc.bcm.edu	37	6	130415502	130415502	+	Missense_Mutation	SNP	G	G	A			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr6:130415502G>A	ENST00000529410.1	+	20	2205	c.1726G>A	c.(1726-1728)Ggc>Agc	p.G576S	L3MBTL3_ENST00000533560.1_Missense_Mutation_p.G551S|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.G576S|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.G551S|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.G576S|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.G551S			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	576					chromatin modification (GO:0016568)|erythrocyte maturation (GO:0043249)|granulocyte differentiation (GO:0030851)|macrophage differentiation (GO:0030225)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		GAGACATCTGGGCCCTCACAG	0.413																																																0													73	67	69					6																	130415502		2203	4300	6503	SO:0001583	missense	84456			AB058701	CCDS34537.1, CCDS34538.1	6q23	2013-01-10			ENSG00000198945	ENSG00000198945		"Sterile alpha motif (SAM) domain containing"	23035	protein-coding gene	gene with protein product							Standard	NM_032438		Approved	KIAA1798	uc003qbt.3	Q96JM7	OTTHUMG00000015554	ENST00000529410.1:c.1726G>A	chr6.hg19:g.130415502G>A	ENSP00000431962:p.Gly576Ser		Q4VXE1|Q5VUM9|Q6P9B5	Missense_Mutation	SNP	ENST00000529410.1	hg19	CCDS34537.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.143485	0.57044	.	.	ENSG00000198945	ENST00000529410;ENST00000533560;ENST00000361794;ENST00000368139;ENST00000526019;ENST00000368136	T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99	6.05	5.19	0.71726	.	0.268826	0.43110	N	0.000601	T	0.11665	0.0284	N	0.20328	0.56	0.45704	D	0.998618	B;B	0.10296	0.003;0.0	B;B	0.12156	0.007;0.002	T	0.09707	-1.0662	10	0.09338	T	0.73	.	12.3272	0.55018	0.0785:0.0:0.9215:0.0	.	551;576	Q96JM7-2;Q96JM7	.;LMBL3_HUMAN	S	576;551;576;551;551;576	ENSP00000431962:G576S;ENSP00000437185:G551S;ENSP00000354526:G576S;ENSP00000357121:G551S;ENSP00000436706:G551S;ENSP00000357118:G576S	ENSP00000354526:G576S	G	+	1	0	L3MBTL3	130457195	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	2.838000	0.48199	1.565000	0.49641	0.650000	0.86243	GGC		0.413	L3MBTL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042195.2	XM_027074		A	130415502	G	A	130415502	3	1	815	1	0	0	0	0	1	0	0	0	8595	1232	43	2	1788	2	L3MBTL3	6	130415502	Missense_Mutation	SNP	G	TCGA-WN-AB4C-01A-11D-A42J-10	39843654	130415502	40699565	38	48874											
MAP3K4	4216	hgsc.bcm.edu	37	6	161470102	161470103	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	AG	AG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr6:161470102_161470103delAG	ENST00000392142.4	+	3	946_947	c.798_799delAG	c.(796-801)ttagagfs	p.E267fs	MAP3K4_ENST00000366920.2_Frame_Shift_Del_p.E267fs|MAP3K4_ENST00000366919.2_Frame_Shift_Del_p.E267fs|MAP3K4_ENST00000348824.7_Frame_Shift_Del_p.E267fs	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	267					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)		TGATCTGGTTAGAGCTACAAGC	0.421																																																0																																										SO:0001589	frameshift_variant	4216			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.798_799delAG	chr6.hg19:g.161470104_161470105delAG	ENSP00000375986:p.Glu267fs		A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Frame_Shift_Del	DEL	ENST00000392142.4	hg19	CCDS34565.1																																																																																				0.421	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			-	161470103	AG	-	161470102	7	5	815	1	0	1	0	1	0	0	0	0	9254	417	15	0	808	0	MAP3K4	6	161470102	Frame_Shift_Del	DEL	AG	TCGA-WN-AB4C-01A-11D-A42J-10	31054600	161470102	9644965	39	48875											
ZMIZ2	83637	hgsc.bcm.edu	37	7	44801088	44801088	+	Silent	SNP	G	G	A			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr7:44801088G>A	ENST00000309315.4	+	10	1404	c.1281G>A	c.(1279-1281)gtG>gtA	p.V427V	ZMIZ2_ENST00000441627.1_Silent_p.V427V|ZMIZ2_ENST00000265346.7_Silent_p.V401V|ZMIZ2_ENST00000433667.1_Silent_p.V395V|ZMIZ2_ENST00000413916.1_Silent_p.V369V	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	427					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						CCTTCCCTGTGCGCGATGGGG	0.612																																					NSCLC(20;604 852 1948 16908 50522)											0													55	66	62					7																	44801088		2203	4300	6503	SO:0001819	synonymous_variant	83637			AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"Zinc fingers, MIZ-type"	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.1281G>A	chr7.hg19:g.44801088G>A			A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Silent	SNP	ENST00000309315.4	hg19	CCDS43576.1																																																																																				0.612	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	NM_031449		A	44801088	G	A	44801088	2	1	815	1	0	0	0	0	0	0	0	1	17702	1306	46	2		2	ZMIZ2	7	44801088	Silent	SNP	G	TCGA-WN-AB4C-01A-11D-A42J-10		44801088	114337575	40	48876											
PKD1L1	168507	hgsc.bcm.edu	37	7	47832364	47832364	+	Nonsense_Mutation	SNP	A	A	T			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr7:47832364A>T	ENST00000289672.2	-	56	8437	c.8387T>A	c.(8386-8388)tTa>tAa	p.L2796*	C7orf69_ENST00000418326.2_5'Flank|C7orf69_ENST00000258776.4_5'Flank	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2796					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						AAGTTCGTCTAACAGATTTGC	0.398																																																0													113	105	108					7																	47832364		2203	4300	6503	SO:0001587	stop_gained	168507			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"polycystin-1L1"	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.8387T>A	chr7.hg19:g.47832364A>T	ENSP00000289672:p.Leu2796*		Q6UWK1	Nonsense_Mutation	SNP	ENST00000289672.2	hg19	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	A	49	15.550097	0.99837	.	.	ENSG00000158683	ENST00000289672	.	.	.	4.95	4.95	0.65309	.	1.192360	0.06551	N	0.745053	.	.	.	.	.	.	0.58432	A	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.9412	10.9277	0.47199	1.0:0.0:0.0:0.0	.	.	.	.	X	2796	.	ENSP00000289672:L2796X	L	-	2	0	PKD1L1	47798889	0.009000	0.17119	0.021000	0.16686	0.942000	0.58702	2.146000	0.42216	2.086000	0.62901	0.533000	0.62120	TTA		0.398	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		T	47832364	A	T	47832364	4	4	815	1	0	0	0	0	0	1	0	0	11966	372	13	5	170	5	PKD1L1	7	47832364	Nonsense_Mutation	SNP	A	TCGA-WN-AB4C-01A-11D-A42J-10	3031276	47832364	111306299	41	48877											
PON2	5445	hgsc.bcm.edu	37	7	95064242	95064247	+	In_Frame_Del	DEL	CCACAG	CCACAG	-			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	CCACAG	CCACAG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr7:95064242_95064247delCCACAG	ENST00000222572.3	-	1	263_268	c.17_22delCTGTGG	c.(16-24)gctgtgggc>ggc	p.AV6del	PON2_ENST00000536183.1_In_Frame_Del_p.AV27del|PON2_ENST00000433091.2_In_Frame_Del_p.AV6del			Q15165	PON2_HUMAN	paraoxonase 2	6					aromatic compound catabolic process (GO:0019439)|response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arylesterase activity (GO:0004064)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		STAD - Stomach adenocarcinoma(171;0.0151)			CCCAGCAAGCCCACAGCCACCAGCCG	0.757																																					GBM(42;803 823 13649 23368 31463)											0																																										SO:0001651	inframe_deletion	5445			M63012, AF001601	CCDS5640.1, CCDS47644.1	7q21.3	2014-03-14			ENSG00000105854	ENSG00000105854	3.1.1.2	"Paraoxonases"	9205	protein-coding gene	gene with protein product	"paraoxonase nirs", "arylesterase 2"	602447				8661009, 9714608	Standard	XM_005250453		Approved		uc003unv.3	Q15165	OTTHUMG00000153948	ENST00000222572.3:c.17_22delCTGTGG	chr7.hg19:g.95064242_95064247delCCACAG	ENSP00000222572:p.Ala6_Val7del		A4D1H7|B2RCP9|B4DJD5|O15114|O15115|O75856|Q5FBX7|Q86YL0	In_Frame_Del	DEL	ENST00000222572.3	hg19	CCDS5640.1																																																																																				0.757	PON2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333142.1	NM_000305		-	95064247	CCACAG	-	95064242	7	5	815	1	0	1	0	1	0	0	0	0	12251	623	22	0	1078	0	PON2	7	95064242	In_Frame_Del	DEL	CCACAG	TCGA-WN-AB4C-01A-11D-A42J-10	47231878	95064242	64074421	42	48878											
CADPS2	93664	hgsc.bcm.edu	37	7	121960313	121960313	+	Missense_Mutation	SNP	C	C	T			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr7:121960313C>T	ENST00000449022.2	-	30	3816	c.3797G>A	c.(3796-3798)cGt>cAt	p.R1266H	CADPS2_ENST00000313070.7_Missense_Mutation_p.R1225H|CADPS2_ENST00000412584.2_Missense_Mutation_p.R1225H|CADPS2_ENST00000334010.7_Missense_Mutation_p.R1264H	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	1266					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						TACTGTTAAACGTCTGTGCAC	0.433																																																0													188	178	181					7																	121960313		1913	4121	6034	SO:0001583	missense	93664				CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"Pleckstrin homology (PH) domain containing"	16018	protein-coding gene	gene with protein product		609978	"Ca++-dependent activator protein for secretion 2"				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.3797G>A	chr7.hg19:g.121960313C>T	ENSP00000398481:p.Arg1266His		A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Missense_Mutation	SNP	ENST00000449022.2	hg19	CCDS55158.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.308018|5.308018	0.95629|0.95629	.|.	.|.	ENSG00000081803|ENSG00000081803	ENST00000360097;ENST00000313070;ENST00000334010;ENST00000420900;ENST00000545465;ENST00000412584;ENST00000449022|ENST00000462699	T;T;T;T|.	0.35236|.	1.32;1.32;1.32;1.32|.	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83193|0.83193	0.5201|0.5201	M|M	0.84585|0.84585	2.705|2.705	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;0.999|.	D;D;D;D|.	0.97110|.	0.992;1.0;0.991;0.994|.	D|D	0.84139|0.84139	0.0416|0.0416	10|5	0.87932|.	D|.	0|.	-10.5465|-10.5465	19.6777|19.6777	0.95943|0.95943	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1270;1225;1266;1220|.	B7ZM57;Q86UW7-2;Q86UW7;Q86UW7-3|.	.;.;CAPS2_HUMAN;.|.	H|I	439;1225;1264;1271;1192;1225;1266|460	ENSP00000325581:R1225H;ENSP00000333940:R1264H;ENSP00000400401:R1225H;ENSP00000398481:R1266H|.	ENSP00000325581:R1225H|.	R|V	-|-	2|1	0|0	CADPS2|CADPS2	121747549|121747549	1.000000|1.000000	0.71417|0.71417	0.907000|0.907000	0.35723|0.35723	0.986000|0.986000	0.74619|0.74619	7.487000|7.487000	0.81328|0.81328	2.669000|2.669000	0.90835|0.90835	0.650000|0.650000	0.86243|0.86243	CGT|GTT		0.433	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	NM_017954		T	121960313	C	T	121960313	3	4	815	1	0	0	0	0	1	0	0	0	2573	536	19	1	97	1	CADPS2	7	121960313	Missense_Mutation	SNP	C	TCGA-WN-AB4C-01A-11D-A42J-10	26896071	121960313	37178350	43	48879											
TRPV5	56302	hgsc.bcm.edu	37	7	142609899	142609899	+	Missense_Mutation	SNP	G	G	T			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr7:142609899G>T	ENST00000265310.1	-	13	1885	c.1537C>A	c.(1537-1539)Cag>Aag	p.Q513K		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	513					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TCCTCTGTCTGGAAAATGATA	0.463																																																0													114	107	109					7																	142609899		2203	4300	6503	SO:0001583	missense	56302			AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	3145	protein-coding gene	gene with protein product		606679	"epithelial calcium channel 1"	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.1537C>A	chr7.hg19:g.142609899G>T	ENSP00000265310:p.Gln513Lys		A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Missense_Mutation	SNP	ENST00000265310.1	hg19	CCDS5875.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.165969	0.78339	.	.	ENSG00000127412	ENST00000265310;ENST00000439304	D;D	0.85411	-1.98;-1.98	5.52	5.52	0.82312	Ion transport (1);	0.108012	0.64402	D	0.000006	D	0.92319	0.7563	M	0.85197	2.74	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.89121	0.3503	10	0.09843	T	0.71	-3.8699	18.8051	0.92034	0.0:0.0:1.0:0.0	.	513	Q9NQA5	TRPV5_HUMAN	K	513;458	ENSP00000265310:Q513K;ENSP00000406361:Q458K	ENSP00000265310:Q513K	Q	-	1	0	TRPV5	142320021	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.486000	0.73629	2.751000	0.94390	0.655000	0.94253	CAG		0.463	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841		T	142609899	G	T	142609899	3	4	815	1	0	0	0	0	1	0	0	0	16604	1357	47	4	664	4	TRPV5	7	142609899	Missense_Mutation	SNP	G	TCGA-WN-AB4C-01A-11D-A42J-10	20649586	142609899	16528764	44	48880											
SLC7A2	6542	hgsc.bcm.edu	37	8	17419548	17419548	+	Missense_Mutation	SNP	C	C	A			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr8:17419548C>A	ENST00000494857.1	+	11	1818	c.1600C>A	c.(1600-1602)Ctt>Att	p.L534I	SLC7A2_ENST00000398090.3_Missense_Mutation_p.L573I|SLC7A2_ENST00000522656.1_Missense_Mutation_p.L534I|SLC7A2_ENST00000004531.10_Missense_Mutation_p.L574I|SLC7A2_ENST00000470360.1_Missense_Mutation_p.L573I	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	534					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|macrophage activation (GO:0042116)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide production involved in inflammatory response (GO:0002537)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	basic amino acid transmembrane transporter activity (GO:0015174)|high-affinity arginine transmembrane transporter activity (GO:0005289)|L-lysine transmembrane transporter activity (GO:0015189)|L-ornithine transmembrane transporter activity (GO:0000064)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	CGCGCTGTTTCTTGTTCTCTT	0.527																																																0													130	112	118					8																	17419548		2203	4300	6503	SO:0001583	missense	6542			D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989		"Solute carriers"	11060	protein-coding gene	gene with protein product		601872		ATRC2		8954799	Standard	NM_001164771		Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000494857.1:c.1600C>A	chr8.hg19:g.17419548C>A	ENSP00000419140:p.Leu534Ile		B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Missense_Mutation	SNP	ENST00000494857.1	hg19	CCDS34852.1	.	.	.	.	.	.	.	.	.	.	C	11.08	1.532320	0.27387	.	.	ENSG00000003989	ENST00000494857;ENST00000522656;ENST00000470360;ENST00000004531;ENST00000398090	D;D;D;D;D	0.89617	-2.37;-2.37;-2.54;-2.4;-2.54	4.83	2.88	0.33553	.	0.195656	0.45606	D	0.000357	T	0.80747	0.4682	L	0.33485	1.01	0.09310	N	0.999998	B;B;B	0.19331	0.035;0.0;0.004	B;B;B	0.29663	0.105;0.012;0.003	T	0.68907	-0.5285	10	0.49607	T	0.09	.	3.2225	0.06720	0.3854:0.3832:0.1468:0.0846	.	574;573;534	P52569-3;P52569-2;P52569	.;.;CTR2_HUMAN	I	534;534;573;574;573	ENSP00000419140:L534I;ENSP00000430464:L534I;ENSP00000419873:L573I;ENSP00000004531:L574I;ENSP00000381164:L573I	ENSP00000004531:L574I	L	+	1	0	SLC7A2	17463840	0.301000	0.24444	0.021000	0.16686	0.010000	0.07245	0.849000	0.27723	1.381000	0.46364	0.563000	0.77884	CTT		0.527	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253367.3	NM_003046		A	17419548	C	A	17419548	3	1	815	1	0	0	0	0	1	0	0	0	14703	913	32	4	1899	4	SLC7A2	8	17419548	Missense_Mutation	SNP	C	TCGA-WN-AB4C-01A-11D-A42J-10		17419548	128944474	45	48881											
ANXA13	312	hgsc.bcm.edu	37	8	124705533	124705533	+	Silent	SNP	C	C	T			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr8:124705533C>T	ENST00000419625.1	-	8	618	c.546G>A	c.(544-546)ggG>ggA	p.G182G	ANXA13_ENST00000262219.6_Silent_p.G223G	NM_004306.2	NP_004297.2	P27216	ANX13_HUMAN	annexin A13	182					cell differentiation (GO:0030154)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|exocytic vesicle (GO:0070382)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylglycerol binding (GO:1901611)|phosphatidylserine binding (GO:0001786)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			AGCGGCCTTCCCCTGCCTCAA	0.458																																																0													118	120	120					8																	124705533		2203	4300	6503	SO:0001819	synonymous_variant	312			Z11502	CCDS34939.1, CCDS47917.1	8q24.13	2005-11-09			ENSG00000104537	ENSG00000104537		"Annexins"	536	protein-coding gene	gene with protein product		602573		ANX13		9503022	Standard	NM_004306		Approved		uc003yqt.3	P27216	OTTHUMG00000164987	ENST00000419625.1:c.546G>A	chr8.hg19:g.124705533C>T			Q9BQR5	Silent	SNP	ENST00000419625.1	hg19	CCDS47917.1																																																																																				0.458	ANXA13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381308.1	NM_004306		T	124705533	C	T	124705533	2	4	815	1	0	0	0	0	0	0	0	1	717	610	22	2		2	ANXA13	8	124705533	Silent	SNP	C	TCGA-WN-AB4C-01A-11D-A42J-10	107285985	124705533	21658489	46	48882											
SMC5	23137	hgsc.bcm.edu	37	9	72961521	72961521	+	Splice_Site	SNP	C	C	A			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr9:72961521C>A	ENST00000361138.5	+	19	2582	c.2524C>A	c.(2524-2526)Caa>Aaa	p.Q842K	SMC5_ENST00000471372.1_3'UTR	NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	842					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|mitotic nuclear division (GO:0007067)|positive regulation of maintenance of mitotic sister chromatid cohesion (GO:0034184)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|telomere maintenance via recombination (GO:0000722)	cell junction (GO:0030054)|chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						ACCAATTCAGCAAGTACCCAC	0.433																																																0													265	238	247					9																	72961521		2203	4300	6503	SO:0001630	splice_region_variant	23137			AB011166	CCDS6632.1	9q21.11	2008-02-05	2006-07-06	2006-07-06	ENSG00000198887	ENSG00000198887		"Structural maintenance of chromosomes proteins"	20465	protein-coding gene	gene with protein product		609386	"SMC5 structural maintenance of chromosomes 5-like 1 (yeast)"	SMC5L1		9628581	Standard	NM_015110		Approved	KIAA0594	uc004ahr.2	Q8IY18	OTTHUMG00000019992	ENST00000361138.5:c.2524-1C>A	chr9.hg19:g.72961521C>A			A6NM81|O60335|Q05D92|Q5VZ60|Q96SB9	Missense_Mutation	SNP	ENST00000361138.5	hg19	CCDS6632.1	.	.	.	.	.	.	.	.	.	.	C	3.903	-0.021568	0.07634	.	.	ENSG00000198887	ENST00000361138	T	0.16324	2.35	4.67	4.67	0.58626	RecF/RecN/SMC (1);	0.831596	0.11061	N	0.603970	T	0.18800	0.0451	N	0.08118	0	0.28736	N	0.902223	P	0.44776	0.843	D	0.64506	0.926	T	0.01715	-1.1289	10	0.02654	T	1	-23.2503	13.3897	0.60816	0.0:1.0:0.0:0.0	.	842	Q8IY18	SMC5_HUMAN	K	842	ENSP00000354957:Q842K	ENSP00000354957:Q842K	Q	+	1	0	SMC5	72151341	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.018000	0.49625	2.882000	0.98803	0.655000	0.94253	CAA		0.433	SMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052603.1	NM_015110	Missense_Mutation	A	72961521	C	A	72961521	5	1	815	1	0	0	0	0	0	0	1	0	14792	724	25	4	2598	4	SMC5	9	72961521	Splice_Site	SNP	C	TCGA-WN-AB4C-01A-11D-A42J-10		72961521	68251910	47	48883											
C9orf84	158401	hgsc.bcm.edu	37	9	114500784	114500784	+	Missense_Mutation	SNP	G	G	A			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr9:114500784G>A	ENST00000318737.4	-	10	1129	c.1001C>T	c.(1000-1002)cCc>cTc	p.P334L	C9orf84_ENST00000394779.3_Missense_Mutation_p.P295L|C9orf84_ENST00000394777.4_Missense_Mutation_p.P295L|C9orf84_ENST00000374283.5_Missense_Mutation_p.P398L|C9orf84_ENST00000374287.3_Missense_Mutation_p.P334L	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	334										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTGGCTGTGGGGCTCTTGAAT	0.333																																																0													50	52	51					9																	114500784		2200	4298	6498	SO:0001583	missense	158401			AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.1001C>T	chr9.hg19:g.114500784G>A	ENSP00000322108:p.Pro334Leu		A2A2V3|Q2M1H8|Q96M73	Missense_Mutation	SNP	ENST00000318737.4	hg19	CCDS6781.3	.	.	.	.	.	.	.	.	.	.	G	5.618	0.298823	0.10622	.	.	ENSG00000165181	ENST00000394779;ENST00000394777;ENST00000374287;ENST00000318737;ENST00000374283	T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74	4.88	1.98	0.26296	.	0.650771	0.14383	N	0.322984	T	0.32852	0.0843	L	0.32530	0.975	0.26719	N	0.970828	B;B;B;B	0.19073	0.033;0.033;0.021;0.01	B;B;B;B	0.19946	0.027;0.027;0.021;0.009	T	0.23297	-1.0192	10	0.48119	T	0.1	1.5768	5.0158	0.14335	0.1887:0.1728:0.6386:0.0	.	295;398;334;295	A6PVK7;Q5VXU9-2;Q5VXU9;A2A2V3	.;.;CI084_HUMAN;.	L	295;295;334;334;398	ENSP00000378259:P295L;ENSP00000378257:P295L;ENSP00000363405:P334L;ENSP00000322108:P334L;ENSP00000363401:P398L	ENSP00000322108:P334L	P	-	2	0	C9orf84	113540605	0.177000	0.23109	0.334000	0.25495	0.236000	0.25371	1.009000	0.29886	0.335000	0.23614	0.460000	0.39030	CCC		0.333	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053656.2	NM_173521		A	114500784	G	A	114500784	3	1	815	1	0	0	0	0	1	0	0	0	2502	1232	43	2	3401	2	C9orf84	9	114500784	Missense_Mutation	SNP	G	TCGA-WN-AB4C-01A-11D-A42J-10	41539263	114500784	26712647	48	48884											
HSDL2	84263	hgsc.bcm.edu	37	9	115179215	115179215	+	Nonsense_Mutation	SNP	C	C	T			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr9:115179215C>T	ENST00000398805.3	+	5	717	c.490C>T	c.(490-492)Cag>Tag	p.Q164*	HSDL2_ENST00000488101.1_3'UTR|HSDL2_ENST00000262542.7_Nonsense_Mutation_p.Q44*|HSDL2_ENST00000398803.1_Intron|HSDL2_ENST00000539114.1_Intron	NM_032303.4	NP_115679.2	Q6YN16	HSDL2_HUMAN	hydroxysteroid dehydrogenase like 2	164						membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|cervix(2)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	13						TTGGTTCAAACAGCACTGTGG	0.388																																																0													85	80	82					9																	115179215		1872	4106	5978	SO:0001587	stop_gained	84263			AY093428	CCDS43864.1, CCDS56582.1	9q32	2011-09-14			ENSG00000119471	ENSG00000119471		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	18572	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 13C, member 1"		"chromosome 9 open reading frame 99"	C9orf99		12834046, 19027726	Standard	NM_032303		Approved	SDR13C1	uc004bga.2	Q6YN16	OTTHUMG00000020504	ENST00000398805.3:c.490C>T	chr9.hg19:g.115179215C>T	ENSP00000381785:p.Gln164*		A8K1L4|A8K8X1|A8MSV3|Q658M8|Q9BT58	Nonsense_Mutation	SNP	ENST00000398805.3	hg19	CCDS43864.1	.	.	.	.	.	.	.	.	.	.	C	38	6.743467	0.97805	.	.	ENSG00000119471	ENST00000398805;ENST00000262542	.	.	.	6.06	4.23	0.50019	.	0.149056	0.56097	D	0.000026	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	7.0545	0.25091	0.1958:0.6377:0.0983:0.0682	.	.	.	.	X	164;44	.	ENSP00000262542:Q44X	Q	+	1	0	HSDL2	114219036	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	3.972000	0.56838	0.459000	0.27016	-0.795000	0.03280	CAG		0.388	HSDL2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053681.1	NM_032303		T	115179215	C	T	115179215	4	4	815	1	0	0	0	0	0	1	0	0	7396	479	17	2	508	2	HSDL2	9	115179215	Nonsense_Mutation	SNP	C	TCGA-WN-AB4C-01A-11D-A42J-10	678431	115179215	26034216	49	48885											
DENND1A	57706	hgsc.bcm.edu	37	9	126144822	126144822	+	Missense_Mutation	SNP	C	C	G			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr9:126144822C>G	ENST00000373624.2	-	22	2120	c.1919G>C	c.(1918-1920)aGc>aCc	p.S640T	DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394219.3_Missense_Mutation_p.S651T|DENND1A_ENST00000542603.1_Missense_Mutation_p.S425T	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	640					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						CTGGCCCAGGCTCCAGAGCTT	0.657																																																0													58	62	60					9																	126144822		2203	4300	6503	SO:0001583	missense	57706			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.1919G>C	chr9.hg19:g.126144822C>G	ENSP00000362727:p.Ser640Thr		A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	Missense_Mutation	SNP	ENST00000373624.2	hg19	CCDS35133.1	.	.	.	.	.	.	.	.	.	.	C	18.43	3.621236	0.66787	.	.	ENSG00000119522	ENST00000373624;ENST00000542603;ENST00000394219	T;T;T	0.34472	2.81;1.36;2.66	5.06	4.1	0.47936	.	0.130939	0.64402	D	0.000002	T	0.43986	0.1272	M	0.61703	1.905	0.80722	D	1	D;D;P;P	0.58268	0.962;0.982;0.835;0.651	P;P;B;B	0.52598	0.677;0.703;0.322;0.165	T	0.28681	-1.0036	10	0.37606	T	0.19	-18.4894	10.3178	0.43747	0.0:0.7878:0.1361:0.076	.	651;641;640;503	Q8TEH3-6;Q8TEH3-7;Q8TEH3;Q9HCG4	.;.;DEN1A_HUMAN;.	T	640;425;651	ENSP00000362727:S640T;ENSP00000437457:S425T;ENSP00000377766:S651T	ENSP00000362727:S640T	S	-	2	0	DENND1A	125184643	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	3.426000	0.52778	2.352000	0.79861	0.563000	0.77884	AGC		0.657	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053997.1	NM_024820		G	126144822	C	G	126144822	3	3	815	1	0	0	0	0	1	0	0	0	4428	797	28	4	1114	4	DENND1A	9	126144822	Missense_Mutation	SNP	C	TCGA-WN-AB4C-01A-11D-A42J-10	10965607	126144822	15068609	50	48886											
GAPVD1	26130	hgsc.bcm.edu	37	9	128104522	128104522	+	Frame_Shift_Del	DEL	A	A	-			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr9:128104522delA	ENST00000495955.1	+	19	3280	c.2990delA	c.(2989-2991)gaafs	p.E997fs	GAPVD1_ENST00000265956.4_Frame_Shift_Del_p.E971fs|GAPVD1_ENST00000470056.1_Intron|GAPVD1_ENST00000297933.6_Frame_Shift_Del_p.E997fs|GAPVD1_ENST00000312123.9_Frame_Shift_Del_p.E976fs|GAPVD1_ENST00000394104.2_Frame_Shift_Del_p.E997fs|GAPVD1_ENST00000394083.2_Intron|GAPVD1_ENST00000394105.2_Frame_Shift_Del_p.E1024fs			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	997					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						AGAAAGAAAGAAAAACAAGAA	0.408																																																0													115	117	116					9																	128104522		2203	4300	6503	SO:0001589	frameshift_variant	26130				CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.2990delA	chr9.hg19:g.128104522delA	ENSP00000419063:p.Glu997fs		A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Frame_Shift_Del	DEL	ENST00000495955.1	hg19																																																																																					0.408	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1			-	128104522	A	-	128104522	7	5	815	1	0	1	0	1	0	0	0	0	6241	246	9	0	3137	0	GAPVD1	9	128104522	Frame_Shift_Del	DEL	A	TCGA-WN-AB4C-01A-11D-A42J-10	1959700	128104522	13108909	51	48887											
NOTCH1	4851	hgsc.bcm.edu	37	9	139409835	139409835	+	Missense_Mutation	SNP	T	T	A			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr9:139409835T>A	ENST00000277541.6	-	12	1996	c.1921A>T	c.(1921-1923)Aac>Tac	p.N641Y		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	641	EGF-like 17; 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)		TCATCCAGGTTGATCTCGCAG	0.687			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																													Dom	yes		9	9q34.3	4851	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"		L	0													73	81	78					9																	139409835		2131	4246	6377	SO:0001583	missense	4851			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"Ankyrin repeat domain containing"	7881	protein-coding gene	gene with protein product		190198	"Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)"	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1921A>T	chr9.hg19:g.139409835T>A	ENSP00000277541:p.Asn641Tyr		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	hg19	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.204226	0.79127	.	.	ENSG00000148400	ENST00000277541	D	0.87029	-2.2	4.92	4.92	0.64577	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	U	0.000000	D	0.92437	0.7599	M	0.79614	2.46	0.80722	D	1	D	0.63880	0.993	D	0.64595	0.927	D	0.93392	0.6752	10	0.87932	D	0	.	13.7467	0.62879	0.0:0.0:0.0:1.0	.	641	P46531	NOTC1_HUMAN	Y	641	ENSP00000277541:N641Y	ENSP00000277541:N641Y	N	-	1	0	NOTCH1	138529656	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	7.846000	0.86887	1.831000	0.53308	0.460000	0.39030	AAC		0.687	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		A	139409835	T	A	139409835	3	1	815	1	0	0	0	0	1	0	0	0	10549	1812	63	5	5838	5	NOTCH1	9	139409835	Missense_Mutation	SNP	T	TCGA-WN-AB4C-01A-11D-A42J-10	11305313	139409835	1803596	52	48888											
ITGA8	8516	hgsc.bcm.edu	37	10	15688924	15688924	+	Silent	SNP	G	G	A			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr10:15688924G>A	ENST00000378076.3	-	12	1481	c.1128C>T	c.(1126-1128)atC>atT	p.I376I		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	376					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						TGCCAGTGAGGATCTGGGGGT	0.478																																																0													121	108	112					10																	15688924		2203	4300	6503	SO:0001819	synonymous_variant	8516			L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"Integrins"	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.1128C>T	chr10.hg19:g.15688924G>A			B0YJ31|Q5VX94	Silent	SNP	ENST00000378076.3	hg19	CCDS31155.1																																																																																				0.478	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		A	15688924	G	A	15688924	2	1	815	1	0	0	0	0	0	0	0	1	7884	1164	41	2		2	ITGA8	10	15688924	Silent	SNP	G	TCGA-WN-AB4C-01A-11D-A42J-10		15688924	119845823	53	48889											
FZD8	8325	hgsc.bcm.edu	37	10	35929628	35929628	+	Nonsense_Mutation	SNP	C	C	A			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr10:35929628C>A	ENST00000374694.1	-	1	734	c.730G>T	c.(730-732)Gag>Tag	p.E244*	MIR4683_ENST00000579659.1_RNA	NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled class receptor 8	244					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						GGGTGGCGCTCGCTGGACACG	0.731																																																0													29	31	30					10																	35929628		2201	4299	6500	SO:0001587	stop_gained	8325			AB043703	CCDS7192.1	10p11.2	2014-01-29	2014-01-29		ENSG00000177283	ENSG00000177283		"GPCR / Class F : Frizzled receptors"	4046	protein-coding gene	gene with protein product		606146	"frizzled (Drosophila) homolog 8", "frizzled homolog 8 (Drosophila)", "frizzled 8, seven transmembrane spanning receptor", "frizzled family receptor 8"			11295046	Standard	NM_031866		Approved		uc001iyz.1	Q9H461	OTTHUMG00000017956	ENST00000374694.1:c.730G>T	chr10.hg19:g.35929628C>A	ENSP00000363826:p.Glu244*			Nonsense_Mutation	SNP	ENST00000374694.1	hg19	CCDS7192.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.952465	0.92660	.	.	ENSG00000177283	ENST00000374694	.	.	.	2.46	2.46	0.29980	.	0.344379	0.25338	U	0.031393	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	11.9654	0.53031	0.0:1.0:0.0:0.0	.	.	.	.	X	244	.	ENSP00000363826:E244X	E	-	1	0	FZD8	35969634	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.333000	0.72939	1.356000	0.45884	0.289000	0.19496	GAG		0.731	FZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047575.2	NM_031866		A	35929628	C	A	35929628	4	1	815	1	0	0	0	0	0	1	0	0	6138	893	31	4	1358	4	FZD8	10	35929628	Nonsense_Mutation	SNP	C	TCGA-WN-AB4C-01A-11D-A42J-10	20240704	35929628	99605119	54	48890											
MYST4	23522	hgsc.bcm.edu	37	10	76789888	76789888	+	Missense_Mutation	SNP	G	G	A			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr10:76789888G>A	ENST00000287239.4	+	18	5795	c.5306G>A	c.(5305-5307)tGc>tAc	p.C1769Y	KAT6B_ENST00000372711.1_Missense_Mutation_p.C1586Y|KAT6B_ENST00000372725.1_Missense_Mutation_p.C1477Y|KAT6B_ENST00000372714.1_Missense_Mutation_p.C1477Y|KAT6B_ENST00000372724.1_Missense_Mutation_p.C1477Y	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1769	Interaction with RUNX1 and RUNX2.				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)										CTGGCTCAGTGCAGCATGGCT	0.592																																																0													43	40	41					10																	76789888		2203	4300	6503	SO:0001583	missense	23522			AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	17582	protein-coding gene	gene with protein product	"MOZ-related factor"	605880	"MYST histone acetyltransferase (monocytic leukemia) 4"	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.5306G>A	chr10.hg19:g.76789888G>A	ENSP00000287239:p.Cys1769Tyr		O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	hg19	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.590079	0.46214	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	T;T;T;T;T	0.80033	-1.29;-1.29;-1.33;-1.29;-1.29	5.54	5.54	0.83059	.	0.000000	0.53938	D	0.000041	D	0.85296	0.5664	L	0.29908	0.895	0.80722	D	1	D;D;D	0.76494	0.995;0.999;0.997	D;D;D	0.79108	0.992;0.971;0.96	D	0.86746	0.1957	10	0.72032	D	0.01	-7.6819	19.4767	0.94992	0.0:0.0:1.0:0.0	.	1586;1477;1769	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	Y	1477;1477;1769;1477;1586	ENSP00000361810:C1477Y;ENSP00000361809:C1477Y;ENSP00000287239:C1769Y;ENSP00000361799:C1477Y;ENSP00000361796:C1586Y	ENSP00000287239:C1769Y	C	+	2	0	KAT6B	76459894	1.000000	0.71417	0.991000	0.47740	0.981000	0.71138	9.476000	0.97823	2.592000	0.87571	0.563000	0.77884	TGC		0.592	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		A	76789888	G	A	76789888	3	1	815	1	0	0	0	0	1	0	0	0	10107	1319	46	2	5368	2	MYST4	10	76789888	Missense_Mutation	SNP	G	TCGA-WN-AB4C-01A-11D-A42J-10	40860260	76789888	58744859	55	48891											
CRTAC1	55118	hgsc.bcm.edu	37	10	99656744	99656744	+	Missense_Mutation	SNP	T	T	G			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr10:99656744T>G	ENST00000370597.3	-	9	1493	c.1138A>C	c.(1138-1140)Atc>Ctc	p.I380L	CRTAC1_ENST00000370591.2_Missense_Mutation_p.I380L|CRTAC1_ENST00000298819.4_Missense_Mutation_p.I380L	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	380						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)		TCTCTACGGATGACGCTGCAG	0.667																																																0													32	25	28					10																	99656744		2188	4268	6456	SO:0001583	missense	55118			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.1138A>C	chr10.hg19:g.99656744T>G	ENSP00000359629:p.Ile380Leu		B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Missense_Mutation	SNP	ENST00000370597.3	hg19	CCDS31266.1	.	.	.	.	.	.	.	.	.	.	T	7.593	0.671122	0.14776	.	.	ENSG00000095713	ENST00000413387;ENST00000370597;ENST00000298819;ENST00000309155;ENST00000370591	T;T;T;T;T	0.21031	2.03;2.03;2.03;2.03;2.03	5.04	5.04	0.67666	.	0.176405	0.50627	D	0.000113	T	0.11239	0.0274	N	0.22421	0.69	0.29887	N	0.825497	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.06405	0.002;0.0;0.001	T	0.25187	-1.0139	10	0.02654	T	1	-26.2583	9.3467	0.38113	0.0:0.08:0.0:0.92	.	380;380;276	Q9NQ79-2;Q9NQ79;Q5T4F6	.;CRAC1_HUMAN;.	L	276;380;380;372;380	ENSP00000408445:I276L;ENSP00000359629:I380L;ENSP00000298819:I380L;ENSP00000310810:I372L;ENSP00000359623:I380L	ENSP00000298819:I380L	I	-	1	0	CRTAC1	99646734	0.998000	0.40836	1.000000	0.80357	0.807000	0.45602	0.559000	0.23485	1.887000	0.54652	0.459000	0.35465	ATC		0.667	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049754.1	NM_018058		G	99656744	T	G	99656744	3	3	815	1	0	0	0	0	1	0	0	0	3898	1464	51	5	875	5	CRTAC1	10	99656744	Missense_Mutation	SNP	T	TCGA-WN-AB4C-01A-11D-A42J-10	22866856	99656744	35878003	56	48892											
OR51I2	390064	hgsc.bcm.edu	37	11	5475536	5475536	+	Missense_Mutation	SNP	A	A	G			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr11:5475536A>G	ENST00000341449.2	+	1	899	c.818A>G	c.(817-819)cAt>cGt	p.H273R	AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	273					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)		TGCTACATACATGTCCTCATG	0.478																																																0													214	184	194					11																	5475536		2201	4297	6498	SO:0001583	missense	390064			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.818A>G	chr11.hg19:g.5475536A>G	ENSP00000341987:p.His273Arg		Q6IF81	Missense_Mutation	SNP	ENST00000341449.2	hg19	CCDS31383.1	.	.	.	.	.	.	.	.	.	.	A	9.364	1.068810	0.20147	.	.	ENSG00000187918	ENST00000341449	T	0.00058	8.79	5.45	4.32	0.51571	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000006	T	0.00440	0.0014	M	0.80847	2.515	0.20703	N	0.999865	D	0.69078	0.997	D	0.80764	0.994	T	0.37888	-0.9686	10	0.59425	D	0.04	.	10.9472	0.47308	0.8598:0.0:0.0:0.1401	.	273	Q9H344	O51I2_HUMAN	R	273	ENSP00000341987:H273R	ENSP00000341987:H273R	H	+	2	0	OR51I2	5432112	0.076000	0.21285	0.967000	0.41034	0.011000	0.07611	3.394000	0.52551	1.065000	0.40693	0.460000	0.39030	CAT		0.478	OR51I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143385.1	NM_001004754		G	5475536	A	G	5475536	3	3	815	1	0	0	0	0	1	0	0	0	11103	217	8	3	820	3	OR51I2	11	5475536	Missense_Mutation	SNP	A	TCGA-WN-AB4C-01A-11D-A42J-10		5475536	129530980	57	48893											
DNHD1	144132	hgsc.bcm.edu	37	11	6588531	6588531	+	Missense_Mutation	SNP	T	T	A			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr11:6588531T>A	ENST00000527990.2	+	34	11792	c.11792T>A	c.(11791-11793)gTa>gAa	p.V3931E	DNHD1_ENST00000254579.6_Missense_Mutation_p.V3931E			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	3931					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CTTACCCAAGTACCCTTGGTG	0.597																																																0													64	71	69					11																	6588531		2117	4226	6343	SO:0001583	missense	144132			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 47", "dynein heavy chain domain 1-like", "coiled-coil domain containing 35"	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.11792T>A	chr11.hg19:g.6588531T>A	ENSP00000436180:p.Val3931Glu		Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	hg19	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	T	0.015	-1.561834	0.00903	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000525883;ENST00000530197	T;T	0.24538	1.85;1.85	4.54	2.19	0.27852	.	1.287750	0.05610	N	0.578019	T	0.16041	0.0386	N	0.19112	0.55	0.09310	N	1	B;B;B	0.30482	0.281;0.244;0.281	B;B;B	0.29440	0.102;0.073;0.102	T	0.28713	-1.0035	10	0.46703	T	0.11	-0.0209	3.0352	0.06119	0.0:0.2537:0.23:0.5163	.	3019;199;3931	B0I1S4;D3DQT9;Q96M86	.;.;DNHD1_HUMAN	E	3931;3931;199;199	ENSP00000254579:V3931E;ENSP00000436180:V3931E	ENSP00000254579:V3931E	V	+	2	0	DNHD1	6545107	0.001000	0.12720	0.040000	0.18447	0.153000	0.21895	0.341000	0.19909	0.795000	0.33922	0.459000	0.35465	GTA		0.597	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		A	6588531	T	A	6588531	3	1	815	1	0	0	0	0	1	0	0	0	4670	1638	57	5	11935	5	DNHD1	11	6588531	Missense_Mutation	SNP	T	TCGA-WN-AB4C-01A-11D-A42J-10	1112995	6588531	128417985	58	48894											
CKAP5	9793	hgsc.bcm.edu	37	11	46832664	46832664	+	Missense_Mutation	SNP	A	A	G			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr11:46832664A>G	ENST00000529230.1	-	5	569	c.523T>C	c.(523-525)Tct>Cct	p.S175P	CKAP5_ENST00000415402.1_Missense_Mutation_p.S175P|CKAP5_ENST00000354558.3_Missense_Mutation_p.S175P|CKAP5_ENST00000312055.5_Missense_Mutation_p.S175P			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	175					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TTCTCTCGAGACTCAAAGAGT	0.388																																					Ovarian(4;85 273 2202 4844 13323)											0													91	85	87					11																	46832664		2201	4299	6500	SO:0001583	missense	9793				CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.523T>C	chr11.hg19:g.46832664A>G	ENSP00000432768:p.Ser175Pro		Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Missense_Mutation	SNP	ENST00000529230.1	hg19	CCDS31477.1	.	.	.	.	.	.	.	.	.	.	A	28.2	4.896892	0.91962	.	.	ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000378629;ENST00000354558	T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39	5.61	5.61	0.85477	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.72653	0.3487	L	0.28115	0.83	0.80722	D	1	D;D;D	0.71674	0.997;0.997;0.998	D;D;P	0.78314	0.991;0.991;0.899	T	0.75522	-0.3288	10	0.56958	D	0.05	-2.057	15.7997	0.78443	1.0:0.0:0.0:0.0	.	175;175;175	Q14008-3;Q14008-2;Q14008	.;.;CKAP5_HUMAN	P	175	ENSP00000432768:S175P;ENSP00000395302:S175P;ENSP00000310227:S175P;ENSP00000346566:S175P	ENSP00000310227:S175P	S	-	1	0	CKAP5	46789240	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.213000	0.95133	2.140000	0.66376	0.460000	0.39030	TCT		0.388	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756		G	46832664	A	G	46832664	3	3	815	1	0	0	0	0	1	0	0	0	3447	275	10	3	5735	3	CKAP5	11	46832664	Missense_Mutation	SNP	A	TCGA-WN-AB4C-01A-11D-A42J-10	40244133	46832664	88173852	59	48895											
PPP1CA	5499	hgsc.bcm.edu	37	11	67168588	67168588	+	Silent	SNP	A	A	G			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr11:67168588A>G	ENST00000376745.4	-	2	286	c.138T>C	c.(136-138)ttT>ttC	p.F46F	PPP1CA_ENST00000532446.1_5'UTR|PPP1CA_ENST00000358239.4_Intron|PPP1CA_ENST00000312989.7_Silent_p.F57F|TBC1D10C_ENST00000526387.1_5'Flank|TBC1D10C_ENST00000312390.5_5'Flank	NM_001008709.1|NM_002708.3	NP_001008709.1|NP_002699.1	P62136	PP1A_HUMAN	protein phosphatase 1, catalytic subunit, alpha isozyme	46					branching morphogenesis of an epithelial tube (GO:0048754)|cell cycle (GO:0007049)|cell division (GO:0051301)|circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|glycogen metabolic process (GO:0005977)|lung development (GO:0030324)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein dephosphorylation (GO:0006470)|regulation of circadian rhythm (GO:0042752)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)|triglyceride catabolic process (GO:0019433)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|MLL5-L complex (GO:0070688)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein phosphatase type 1 complex (GO:0000164)|PTW/PP1 phosphatase complex (GO:0072357)	metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|protein serine/threonine phosphatase activity (GO:0004722)|ribonucleoprotein complex binding (GO:0043021)			breast(1)|lung(2)|pancreas(1)|urinary_tract(3)	7			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			GCTGGCTCAGAAAAATCTCCC	0.617																																																0													55	63	60					11																	67168588		2200	4295	6495	SO:0001819	synonymous_variant	5499				CCDS8160.1, CCDS8161.1, CCDS31618.1	11q13	2013-01-18	2010-03-05			ENSG00000172531	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9281	protein-coding gene	gene with protein product		176875	"protein phosphatase 1, catalytic subunit, alpha isoform"	PPP1A			Standard	NM_002708		Approved	PP1A, PP-1A, PP1alpha	uc001oku.1	P62136		ENST00000376745.4:c.138T>C	chr11.hg19:g.67168588A>G			A6NNR3|B2R908|P08129|P20653|P22802|Q07161	Silent	SNP	ENST00000376745.4	hg19	CCDS8160.1																																																																																				0.617	PPP1CA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395487.1	NM_002708		G	67168588	A	G	67168588	2	3	815	1	0	0	0	0	0	0	0	1	12354	243	9	3		3	PPP1CA	11	67168588	Silent	SNP	A	TCGA-WN-AB4C-01A-11D-A42J-10	20335924	67168588	67837928	60	48896											
ARHGEF17	9828	hgsc.bcm.edu	37	11	73022203	73022203	+	Silent	SNP	T	T	A			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr11:73022203T>A	ENST00000263674.3	+	1	2870	c.2520T>A	c.(2518-2520)ccT>ccA	p.P840P	RP11-800A3.7_ENST00000546324.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	840					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						TGGCTGGGCCTGGATTCGAGG	0.657																																																0													41	49	46					11																	73022203		2200	4293	6493	SO:0001819	synonymous_variant	9828			AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"Rho guanine nucleotide exchange factors"	21726	protein-coding gene	gene with protein product	"Rho-specific guanine-nucleotide exchange factor 164 kDa", "tumor endothelial marker 4"					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.2520T>A	chr11.hg19:g.73022203T>A			B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Silent	SNP	ENST00000263674.3	hg19	CCDS8221.1																																																																																				0.657	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		A	73022203	T	A	73022203	2	1	815	1	0	0	0	0	0	0	0	1	900	1567	55	5		5	ARHGEF17	11	73022203	Silent	SNP	T	TCGA-WN-AB4C-01A-11D-A42J-10	5853615	73022203	61984313	61	48897											
TXNRD1	7296	hgsc.bcm.edu	37	12	104681125	104681125	+	Splice_Site	SNP	G	G	T			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr12:104681125G>T	ENST00000526691.1	+	1	466		c.e1+1		TXNRD1_ENST00000540716.1_Intron|TXNRD1_ENST00000526390.1_Intron|TXNRD1_ENST00000503506.2_Intron|TXNRD1_ENST00000529546.1_Intron|TXNRD1_ENST00000354940.6_Splice_Site|TXNRD1_ENST00000525566.1_Intron|TXNRD1_ENST00000524698.1_5'Flank|TXNRD1_ENST00000378070.4_5'Flank|TXNRD1_ENST00000388854.3_Splice_Site|TXNRD1_ENST00000542918.1_5'Flank|TXNRD1_ENST00000429002.2_Intron	NM_001261445.1|NM_003330.3	NP_001248374.1|NP_003321.3	Q16881	TRXR1_HUMAN	thioredoxin reductase 1						cell proliferation (GO:0008283)|cell redox homeostasis (GO:0045454)|cellular lipid metabolic process (GO:0044255)|mesoderm formation (GO:0001707)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16					Arsenic trioxide(DB01169)|Flavin adenine dinucleotide(DB03147)	ATGTCATGTGGTAGGTGAGGC	0.547																																					Ovarian(139;555 1836 9186 9946 10884)											0													222	228	226					12																	104681125		1962	4143	6105	SO:0001630	splice_region_variant	7296				CCDS53820.1, CCDS53821.1, CCDS53823.1, CCDS58274.1	12q23-q24.1	2012-03-01							12437	protein-coding gene	gene with protein product		601112				7589432	Standard	NM_001093771		Approved	TXNR, GRIM-12, Trxr1	uc021rcx.2	Q16881		ENST00000526691.1:c.10+1G>T	chr12.hg19:g.104681125G>T			B7Z1F4|B7Z3Y8|B7Z904|E9PMY9|F5H780|Q6FI31|Q6VB40|Q6VB41|Q6VB42|Q6VBP2|Q6VBP3|Q6VBP4|Q6VBP5|Q6VBP9|Q6VBQ0|Q6YNQ1|Q76P53|Q7LA96|Q8WVC8|Q99475|Q9UES8|Q9UH79	Splice_Site	SNP	ENST00000526691.1	hg19	CCDS53821.1	.	.	.	.	.	.	.	.	.	.	G	5.535	0.283666	0.10458	.	.	ENSG00000198431	ENST00000526691;ENST00000388854	.	.	.	3.21	-3.02	0.05446	.	.	.	.	.	.	.	.	.	.	.	0.18873	N	0.999988	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.979	0.03422	0.1043:0.3057:0.2794:0.3105	.	.	.	.	.	-1	.	.	.	+	.	.	TXNRD1	103205255	0.000000	0.05858	0.000000	0.03702	0.134000	0.20937	-0.113000	0.10774	-0.676000	0.05238	0.555000	0.69702	.		0.547	TXNRD1-002	KNOWN	basic|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000389970.2	NM_003330	Intron	T	104681125	G	T	104681125	5	4	815	1	0	0	0	0	0	0	1	0	16812	1275	44	4	329	4	TXNRD1	12	104681125	Splice_Site	SNP	G	TCGA-WN-AB4C-01A-11D-A42J-10		104681125	29170770	62	48898											
WDR66	144406	hgsc.bcm.edu	37	12	122389412	122389412	+	Silent	SNP	C	C	T			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr12:122389412C>T	ENST00000288912.4	+	9	2150	c.1296C>T	c.(1294-1296)caC>caT	p.H432H	WDR66_ENST00000397454.2_Silent_p.H432H	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	432							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)		CACTGGCTCACAGTGCCCCAC	0.368																																					Esophageal Squamous(85;849 1794 49757 52143)											0													103	88	93					12																	122389412		1836	4098	5934	SO:0001819	synonymous_variant	144406			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.1296C>T	chr12.hg19:g.122389412C>T			C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Silent	SNP	ENST00000288912.4	hg19	CCDS41853.1																																																																																				0.368	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401700.1	NM_144668		T	122389412	C	T	122389412	2	4	815	1	0	0	0	0	0	0	0	1	17322	477	17	2		2	WDR66	12	122389412	Silent	SNP	C	TCGA-WN-AB4C-01A-11D-A42J-10	17708287	122389412	11462483	63	48899											
DIAPH3	81624	hgsc.bcm.edu	37	13	60384950	60384950	+	Silent	SNP	C	C	T			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr13:60384950C>T	ENST00000400324.4	-	25	3355	c.3135G>A	c.(3133-3135)aaG>aaA	p.K1045K	DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400320.1_Silent_p.K999K|DIAPH3_ENST00000400319.1_Silent_p.K975K|DIAPH3_ENST00000267215.4_Silent_p.K1045K|DIAPH3_ENST00000400330.1_Silent_p.K1045K|DIAPH3_ENST00000377908.2_Silent_p.K1034K	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	1045					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)		AACGCTTTTTCTTTTGTTGGC	0.308																																																0													156	144	148					13																	60384950		1799	4059	5858	SO:0001819	synonymous_variant	81624			AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"diaphanous (Drosophila, homolog) 3", "auditory neuropathy, autosomal dominant 1", "diaphanous homolog 3 (Drosophila)"	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.3135G>A	chr13.hg19:g.60384950C>T			A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Silent	SNP	ENST00000400324.4	hg19	CCDS41898.1																																																																																				0.308	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517		T	60384950	C	T	60384950	2	4	815	1	0	0	0	0	0	0	0	1	4522	912	32	2		2	DIAPH3	13	60384950	Silent	SNP	C	TCGA-WN-AB4C-01A-11D-A42J-10		60384950	54784928	64	48900											
PABPN1	8106	hgsc.bcm.edu	37	14	23792661	23792661	+	Missense_Mutation	SNP	C	C	A	rs145369012		TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr14:23792661C>A	ENST00000216727.4	+	4	791	c.610C>A	c.(610-612)Ctg>Atg	p.L204M	PABPN1_ENST00000397276.2_Missense_Mutation_p.L204M|BCL2L2-PABPN1_ENST00000553781.1_Missense_Mutation_p.L231M|BCL2L2-PABPN1_ENST00000557008.1_Missense_Mutation_p.L231M|PABPN1_ENST00000556821.1_Missense_Mutation_p.L76M|PABPN1_ENST00000557702.1_Missense_Mutation_p.L76M|AL049829.1_ENST00000594872.1_5'Flank	NM_004643.3	NP_004634.1	Q86U42	PABP2_HUMAN	poly(A) binding protein, nuclear 1	204	Necessary for homooligomerization.|RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|modification by virus of host mRNA processing (GO:0046778)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|muscle contraction (GO:0006936)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)|viral life cycle (GO:0019058)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			large_intestine(1)|lung(1)|ovary(2)	4	all_cancers(95;6.69e-06)			GBM - Glioblastoma multiforme(265;0.00643)		TGTTACCATACTGTGTGACAA	0.383																																																0													95	94	94					14																	23792661		2203	4300	6503	SO:0001583	missense	100529063			AF026029	CCDS9592.1	14q11.2	2013-02-12	2001-11-28		ENSG00000100836	ENSG00000100836		"RNA binding motif (RRM) containing"	8565	protein-coding gene	gene with protein product		602279	"poly(A)-binding protein, nuclear 1"	OPMD, PABP2		7795598	Standard	NM_004643		Approved	PAB2		Q86U42	OTTHUMG00000028739	ENST00000216727.4:c.610C>A	chr14.hg19:g.23792661C>A	ENSP00000216727:p.Leu204Met		D3DS49|O43484	Missense_Mutation	SNP	ENST00000216727.4	hg19	CCDS9592.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.62|19.62	3.862406|3.862406	0.71949|0.71949	.|.	.|.	ENSG00000258643;ENSG00000258643;ENSG00000100836;ENSG00000100836;ENSG00000100836;ENSG00000100836|ENSG00000100836	ENST00000553781;ENST00000557008;ENST00000216727;ENST00000397276;ENST00000556821;ENST00000557702|ENST00000555295	T;T;T;T;T;T|.	0.15834|.	2.39;2.39;2.39;2.39;2.39;2.39|.	4.88|4.88	4.88|4.88	0.63580|0.63580	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.58032|0.58032	0.2094|0.2094	L|L	0.33137|0.33137	0.985|0.985	0.53688|0.53688	D|D	0.999979|0.999979	D;D;P|.	0.62365|.	0.983;0.991;0.592|.	D;P;P|.	0.69142|.	0.962;0.907;0.823|.	T|T	0.54050|0.54050	-0.8351|-0.8351	10|5	0.51188|.	T|.	0.08|.	-13.407|-13.407	17.1586|17.1586	0.86798|0.86798	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	204;204;231|.	Q86U42;Q86U42-2;G3V5R7|.	PABP2_HUMAN;.;.|.	M|N	231;231;204;204;76;76|3	ENSP00000451320:L231M;ENSP00000452479:L231M;ENSP00000216727:L204M;ENSP00000380446:L204M;ENSP00000451970:L76M;ENSP00000450724:L76M|.	ENSP00000216727:L204M|.	L|T	+|+	1|2	2|0	PABPN1;RP11-124D2.2|PABPN1	22862501|22862501	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	4.154000|4.154000	0.58125|0.58125	2.401000|2.401000	0.81631|0.81631	0.555000|0.555000	0.69702|0.69702	CTG|ACT		0.383	PABPN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071767.4	NM_004643		A	23792661	C	A	23792661	3	1	815	1	0	0	0	0	1	0	0	0	11370	564	20	4	624	4	PABPN1	14	23792661	Missense_Mutation	SNP	C	TCGA-WN-AB4C-01A-11D-A42J-10		23792661	83556879	65	48901											
SCNN1B	6338	hgsc.bcm.edu	37	16	23391419	23391421	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	GGA	GGA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr16:23391419_23391421delGGA	ENST00000343070.2	+	12	1647_1649	c.1471_1473delGGA	c.(1471-1473)ggadel	p.G491del	SCNN1B_ENST00000568923.1_In_Frame_Del_p.G464del|SCNN1B_ENST00000307331.5_In_Frame_Del_p.G536del|SCNN1B_ENST00000568085.1_In_Frame_Del_p.G455del	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	491					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)	CTGCAGGAAGGGAATTGTCAAGC	0.493																																																0																																										SO:0001651	inframe_deletion	6338			X87159	CCDS10609.1	16p12.2-p12.1	2012-02-28	2012-02-28		ENSG00000168447	ENSG00000168447		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10600	protein-coding gene	gene with protein product	"Liddle syndrome"	600760	"sodium channel, nonvoltage-gated 1, beta", "sodium channel, non-voltage-gated 1, beta"				Standard	NM_000336		Approved	ENaCbeta	uc002dln.3	P51168	OTTHUMG00000131608	ENST00000343070.2:c.1471_1473delGGA	chr16.hg19:g.23391419_23391421delGGA	ENSP00000345751:p.Gly491del		C5HTZ2|O60891|Q96KG2|Q9UJ32|Q9UMU5	In_Frame_Del	DEL	ENST00000343070.2	hg19	CCDS10609.1																																																																																				0.493	SCNN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254495.2			-	23391421	GGA	-	23391419	7	5	815	1	0	1	0	1	0	0	0	0	13934	1233	43	0	1513	0	SCNN1B	16	23391419	In_Frame_Del	DEL	GGA	TCGA-WN-AB4C-01A-11D-A42J-10		23391419	66963334	66	48902											
DOC2A	8448	hgsc.bcm.edu	37	16	30021517	30021517	+	Missense_Mutation	SNP	C	C	T			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr16:30021517C>T	ENST00000350119.4	-	2	217	c.27G>A	c.(25-27)atG>atA	p.M9I	DOC2A_ENST00000564979.1_Missense_Mutation_p.M9I|DOC2A_ENST00000567824.1_5'Flank|DOC2A_ENST00000564944.1_Missense_Mutation_p.M9I	NM_001282062.1|NM_001282063.1|NM_001282068.1|NM_003586.2	NP_001268991.1|NP_001268992.1|NP_001268997.1|NP_003577.2	Q14183	DOC2A_HUMAN	double C2-like domains, alpha	9	Interaction with UNC13D and DYNLT1.				nervous system development (GO:0007399)|regulation of calcium ion-dependent exocytosis (GO:0017158)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|lysosome (GO:0005764)|membrane (GO:0016020)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)	9						TGTTGATGGTCATGCGATCGC	0.652																																																0													67	68	68					16																	30021517		2197	4300	6497	SO:0001583	missense	8448			D31897	CCDS10666.1	16p11.2	2014-07-02			ENSG00000149927	ENSG00000149927		"Synaptotagmins"	2985	protein-coding gene	gene with protein product		604567				7826360, 9736751	Standard	NM_003586		Approved		uc002dvn.3	Q14183	OTTHUMG00000132109	ENST00000350119.4:c.27G>A	chr16.hg19:g.30021517C>T	ENSP00000340017:p.Met9Ile		B4DEJ2|H3BNH6|Q6P4G4|Q7Z5G0|Q8IVX0	Missense_Mutation	SNP	ENST00000350119.4	hg19	CCDS10666.1	.	.	.	.	.	.	.	.	.	.	c	11.50	1.657555	0.29425	.	.	ENSG00000149927	ENST00000350119	D	0.91011	-2.77	4.14	4.14	0.48551	.	0.000000	0.45126	U	0.000382	T	0.79452	0.4448	N	0.08118	0	0.30052	N	0.811696	B	0.13145	0.007	B	0.09377	0.004	T	0.69049	-0.5248	10	0.17832	T	0.49	.	13.9735	0.64257	0.0:1.0:0.0:0.0	.	9	Q14183	DOC2A_HUMAN	I	9	ENSP00000340017:M9I	ENSP00000340017:M9I	M	-	3	0	DOC2A	29929018	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.871000	0.48459	2.149000	0.67028	0.457000	0.33378	ATG		0.652	DOC2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255148.2	NM_003586		T	30021517	C	T	30021517	3	4	815	1	0	0	0	0	1	0	0	0	4685	826	29	2	1215	2	DOC2A	16	30021517	Missense_Mutation	SNP	C	TCGA-WN-AB4C-01A-11D-A42J-10	6630098	30021517	60333236	67	48903											
SLC5A2	6524	hgsc.bcm.edu	37	16	31500225	31500225	+	Silent	SNP	A	A	T			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr16:31500225A>T	ENST00000330498.3	+	11	1324	c.1305A>T	c.(1303-1305)gtA>gtT	p.V435V	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	435					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-affinity glucose:sodium symporter activity (GO:0005362)			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25					Canagliflozin(DB08907)|Dapagliflozin(DB06292)	TCATCGTGGTAGTGTCGGTGG	0.692																																																0													56	53	54					16																	31500225		2197	4299	6496	SO:0001819	synonymous_variant	6524				CCDS10714.1	16p11.2	2013-05-22			ENSG00000140675	ENSG00000140675		"Solute carriers"	11037	protein-coding gene	gene with protein product		182381		SGLT2		8244402	Standard	NM_003041		Approved		uc002ecf.4	P31639	OTTHUMG00000176620	ENST00000330498.3:c.1305A>T	chr16.hg19:g.31500225A>T			A2RRD2	Silent	SNP	ENST00000330498.3	hg19	CCDS10714.1																																																																																				0.692	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255627.2			T	31500225	A	T	31500225	2	4	815	1	0	0	0	0	0	0	0	1	14671	407	15	5		5	SLC5A2	16	31500225	Silent	SNP	A	TCGA-WN-AB4C-01A-11D-A42J-10	1478708	31500225	58854528	68	48904											
BRD7	29117	hgsc.bcm.edu	37	16	50373920	50373920	+	Silent	SNP	C	C	T	rs150219867		TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr16:50373920C>T	ENST00000394688.3	-	6	828	c.669G>A	c.(667-669)aaG>aaA	p.K223K	BRD7_ENST00000394689.2_Silent_p.K223K			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	223					cell cycle (GO:0007049)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				AGTGCAACAGCTTCTTTGCAG	0.343																																																0								C	,	0,4396		0,0,2198	120	121	120		669,669	5.3	1	16	dbSNP_134	120	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous,coding-synonymous	BRD7	NM_001173984.2,NM_013263.4	,	0,1,6494	TT,TC,CC		0.0116,0.0,0.0077	,	223/653,223/652	50373920	1,12989	2198	4297	6495	SO:0001819	synonymous_variant	29117			AF213969	CCDS10742.1, CCDS54007.1	16q12.1	2008-11-18	2002-01-14		ENSG00000166164	ENSG00000166164			14310	protein-coding gene	gene with protein product			"bromodomain-containing 7"			10526152, 18809673	Standard	NM_013263		Approved	CELTIX1, BP75	uc002ege.2	Q9NPI1	OTTHUMG00000133170	ENST00000394688.3:c.669G>A	chr16.hg19:g.50373920C>T			Q4VC09|Q8N2L9|Q96KA4|Q9BV48|Q9UH59	Silent	SNP	ENST00000394688.3	hg19	CCDS10742.1																																																																																				0.343	BRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256874.3	NM_013263		T	50373920	C	T	50373920	2	4	815	1	0	0	0	0	0	0	0	1	1507	796	28	2		2	BRD7	16	50373920	Silent	SNP	C	TCGA-WN-AB4C-01A-11D-A42J-10	18873695	50373920	39980833	69	48905											
KIAA0174	9798	hgsc.bcm.edu	37	16	71950997	71950997	+	Missense_Mutation	SNP	C	C	A			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr16:71950997C>A	ENST00000378799.6	+	4	673	c.317C>A	c.(316-318)gCt>gAt	p.A106D	IST1_ENST00000378798.5_Missense_Mutation_p.A106D|RP11-498D10.5_ENST00000567146.1_RNA|IST1_ENST00000541571.2_Missense_Mutation_p.A106D|IST1_ENST00000329908.8_Missense_Mutation_p.A106D|IST1_ENST00000538850.1_Intron|IST1_ENST00000606369.1_Intron|IST1_ENST00000535424.1_Missense_Mutation_p.A119D|IST1_ENST00000544564.1_Missense_Mutation_p.A106D|IST1_ENST00000538565.1_Intron			P53990	IST1_HUMAN	increased sodium tolerance 1 homolog (yeast)	106	Interaction with CHMP1A and CHMP1B.|Interaction with VPS37B.				abscission (GO:0009838)|cell division (GO:0051301)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of proteolysis (GO:0045862)|protein localization (GO:0008104)|viral capsid secondary envelopment (GO:0046745)|viral release from host cell (GO:0019076)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Flemming body (GO:0090543)|midbody (GO:0030496)	MIT domain binding (GO:0090541)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)										TTGATCTGGGCTGCTCCTCGA	0.368																																																0													87	85	86					16																	71950997		2198	4298	6496	SO:0001583	missense	9798			BC004359	CCDS10905.1, CCDS59271.1, CCDS59272.1, CCDS59273.1, CCDS59274.1	16q22.2	2011-08-18	2011-08-18	2011-08-18	ENSG00000182149	ENSG00000182149			28977	protein-coding gene	gene with protein product			"KIAA0174"	KIAA0174		8724849, 19129480	Standard	NM_001270975		Approved		uc002fbm.2	P53990	OTTHUMG00000137597	ENST00000378799.6:c.317C>A	chr16.hg19:g.71950997C>A	ENSP00000368076:p.Ala106Asp		A8KAH5|J3QLU7|Q3SYM4|Q9BQ81|Q9BWN2	Missense_Mutation	SNP	ENST00000378799.6	hg19	CCDS59272.1	.	.	.	.	.	.	.	.	.	.	C	35	5.586842	0.96578	.	.	ENSG00000182149	ENST00000535424;ENST00000378799;ENST00000424485;ENST00000329908;ENST00000378798;ENST00000456820	.	.	.	5.81	5.81	0.92471	Domain of unknown function DUF292, eukaryotic (1);	0.000000	0.85682	D	0.000000	D	0.86611	0.5974	M	0.91510	3.215	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.995;0.984;0.987;0.997	D	0.88631	0.3169	9	0.87932	D	0	-6.0333	20.0758	0.97742	0.0:1.0:0.0:0.0	.	106;106;106;119	P53990;P53990-2;P53990-3;A8KAH5	IST1_HUMAN;.;.;.	D	119;106;106;106;106;44	.	ENSP00000330408:A106D	A	+	2	0	KIAA0174	70508498	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.783000	0.85696	2.763000	0.94921	0.650000	0.86243	GCT		0.368	IST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269005.2	NM_014761		A	71950997	C	A	71950997	3	1	815	1	0	0	0	0	1	0	0	0	8160	797	28	4	327	4	KIAA0174	16	71950997	Missense_Mutation	SNP	C	TCGA-WN-AB4C-01A-11D-A42J-10	21577077	71950997	18403756	70	48906											
C16orf46	123775	hgsc.bcm.edu	37	16	81094893	81094893	+	Missense_Mutation	SNP	A	A	T			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr16:81094893A>T	ENST00000299578.5	-	4	1296	c.1061T>A	c.(1060-1062)gTt>gAt	p.V354D	C16orf46_ENST00000444657.3_5'Flank|C16orf46_ENST00000378611.4_Missense_Mutation_p.V354D|RP11-303E16.8_ENST00000564536.1_RNA	NM_152337.2	NP_689550.2	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	354						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						CTTTGGGAGAACATGCTTTCG	0.498																																																0													160	153	155					16																	81094893		2202	4300	6502	SO:0001583	missense	123775			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.1061T>A	chr16.hg19:g.81094893A>T	ENSP00000299578:p.Val354Asp		Q96MA7	Missense_Mutation	SNP	ENST00000299578.5	hg19	CCDS10932.1	.	.	.	.	.	.	.	.	.	.	A	11.97	1.797893	0.31777	.	.	ENSG00000166455	ENST00000378611;ENST00000444657;ENST00000299578	T;T	0.19105	2.17;2.17	4.95	0.684	0.18003	.	1.443920	0.04336	N	0.353206	T	0.12008	0.0292	N	0.19112	0.55	0.09310	N	1	P;P	0.43701	0.815;0.815	B;B	0.37304	0.246;0.246	T	0.16335	-1.0406	10	0.59425	D	0.04	.	1.2725	0.02024	0.4007:0.2939:0.0958:0.2095	.	354;354	Q6P387-2;Q6P387	.;CP046_HUMAN	D	354;81;354	ENSP00000367874:V354D;ENSP00000299578:V354D	ENSP00000299578:V354D	V	-	2	0	C16orf46	79652394	0.000000	0.05858	0.000000	0.03702	0.307000	0.27823	0.226000	0.17776	0.317000	0.23160	0.450000	0.29827	GTT		0.498	C16orf46-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269054.2	NM_152337		T	81094893	A	T	81094893	3	4	815	1	0	0	0	0	1	0	0	0	1817	43	2	5	158	5	C16orf46	16	81094893	Missense_Mutation	SNP	A	TCGA-WN-AB4C-01A-11D-A42J-10	9143896	81094893	9259860	71	48907											
MED11	400569	hgsc.bcm.edu	37	17	4636405	4636405	+	Missense_Mutation	SNP	G	G	A	rs376931968		TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr17:4636405G>A	ENST00000293777.5	+	3	333	c.277G>A	c.(277-279)Gct>Act	p.A93T	RP11-314A20.5_ENST00000570493.2_RNA|CXCL16_ENST00000576153.1_5'Flank|MED11_ENST00000575284.1_3'UTR	NM_001001683.2	NP_001001683.1	Q9P086	MED11_HUMAN	mediator complex subunit 11	93						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			lung(2)|ovary(2)	4						CTGTCAGATGGCTCTGAAGCG	0.567																																																0								G	THR/ALA	0,4406		0,0,2203	109	85	93		277	5.7	1	17		93	1,8599	1.2+/-3.3	0,1,4299	no	missense	MED11	NM_001001683.2	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	93/118	4636405	1,13005	2203	4300	6503	SO:0001583	missense	400569			AF161414	CCDS32533.1	17p13.2	2007-07-30	2007-07-30			ENSG00000161920			32687	protein-coding gene	gene with protein product		612383	"mediator of RNA polymerase II transcription, subunit 11 homolog (S. cerevisiae)"			15175163, 12584197	Standard	NM_001001683		Approved	HSPC296, MGC88387	uc002fyp.3	Q9P086		ENST00000293777.5:c.277G>A	chr17.hg19:g.4636405G>A	ENSP00000293777:p.Ala93Thr		Q6NS89	Missense_Mutation	SNP	ENST00000293777.5	hg19	CCDS32533.1	.	.	.	.	.	.	.	.	.	.	G	34	5.390757	0.95988	0.0	1.16E-4	ENSG00000161920	ENST00000293777	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.77805	0.4185	M	0.62266	1.93	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79017	-0.1975	9	0.87932	D	0	-5.2699	17.3997	0.87456	0.0:0.0:1.0:0.0	.	93	Q9P086	MED11_HUMAN	T	93	.	ENSP00000293777:A93T	A	+	1	0	MED11	4583154	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.027000	0.70881	2.703000	0.92315	0.655000	0.94253	GCT		0.567	MED11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439574.1	NM_001001683		A	4636405	G	A	4636405	3	1	815	1	0	0	0	0	1	0	0	0	9429	1203	42	2	287	2	MED11	17	4636405	Missense_Mutation	SNP	G	TCGA-WN-AB4C-01A-11D-A42J-10		4636405	76558805	72	48908											
NLRP1	22861	hgsc.bcm.edu	37	17	5461748	5461748	+	Silent	SNP	G	G	A			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr17:5461748G>A	ENST00000572272.1	-	4	2267	c.2268C>T	c.(2266-2268)ttC>ttT	p.F756F	NLRP1_ENST00000269280.4_Silent_p.F756F|NLRP1_ENST00000345221.3_Silent_p.F756F|NLRP1_ENST00000577119.1_Silent_p.F756F|NLRP1_ENST00000354411.3_Silent_p.F756F|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000262467.5_Silent_p.F756F			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	756					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)				ATTTAATGCAGAAAGTGCACA	0.498																																																0													101	101	101					17																	5461748		2203	4300	6503	SO:0001819	synonymous_variant	22861			AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"Nucleotide-binding domain and leucine rich repeat containing"	14374	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"	606636	"NACHT, leucine rich repeat and PYD (pyrin domain) containing 1", "systemic lupus erythematosus, vitiligo-related 1"	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.2268C>T	chr17.hg19:g.5461748G>A			E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Silent	SNP	ENST00000572272.1	hg19	CCDS42246.1																																																																																				0.498	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004		A	5461748	G	A	5461748	2	1	815	1	0	0	0	0	0	0	0	1	10473	933	33	2		2	NLRP1	17	5461748	Silent	SNP	G	TCGA-WN-AB4C-01A-11D-A42J-10	825343	5461748	75733462	73	48909											
FLCN	201163	hgsc.bcm.edu	37	17	17117172	17117172	+	Splice_Site	SNP	T	T	G			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr17:17117172T>G	ENST00000285071.4	-	14	1993		c.e14-2		RP11-45M22.4_ENST00000427497.3_Intron	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin						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						TTCACTTTGCTGAAGAAAACC	0.547									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome																																							0													136	125	129					17																	17117172		2203	4300	6503	SO:0001630	splice_region_variant	201163	Familial Cancer Database	Familial Clear Cell Renal Cell Cancer, FcRCC, Familial Non-VHL Non-Papillary Clear Cell Renal Cancer;BHD, Fibrofolliculomas with Trichodiscomas and Acrochordons, incl.: Hornstein-Knickenberg syndrome, Perifollicular Fibromatosis	AF517523	CCDS32579.1, CCDS32580.1	17p11.2	2014-09-17			ENSG00000154803	ENSG00000154803			27310	protein-coding gene	gene with protein product		607273					Standard	NM_144997		Approved	BHD, MGC17998, MGC23445	uc002gra.4	Q8NFG4	OTTHUMG00000059275	ENST00000285071.4:c.1539-2A>C	chr17.hg19:g.17117172T>G			A6NJJ8|Q6ZRX1|Q96BD2|Q96BE4	Splice_Site	SNP	ENST00000285071.4	hg19	CCDS32579.1	.	.	.	.	.	.	.	.	.	.	T	14.84	2.654937	0.47467	.	.	ENSG00000154803	ENST00000285071	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0781	0.72093	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FLCN	17057897	1.000000	0.71417	0.982000	0.44146	0.327000	0.28475	7.762000	0.85270	1.960000	0.56953	0.459000	0.35465	.		0.547	FLCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131577.1	NM_144606	Intron	G	17117172	T	G	17117172	5	3	815	1	0	0	0	0	0	0	1	0	5923	1594	55	5	206	5	FLCN	17	17117172	Splice_Site	SNP	T	TCGA-WN-AB4C-01A-11D-A42J-10	11655424	17117172	64078038	74	48910											
MED1	5469	hgsc.bcm.edu	37	17	37566430	37566430	+	Missense_Mutation	SNP	A	A	T			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr17:37566430A>T	ENST00000300651.6	-	17	2267	c.2044T>A	c.(2044-2046)Tcg>Acg	p.S682T	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)		TTGCTCCCCGAGCATATTTCC	0.453										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)											0													98	103	101					17																	37566430		2203	4300	6503	SO:0001583	missense	5469			L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"PPAR binding protein"	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.2044T>A	chr17.hg19:g.37566430A>T	ENSP00000300651:p.Ser682Thr		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000300651.6	hg19	CCDS11336.1	.	.	.	.	.	.	.	.	.	.	A	7.772	0.707664	0.15239	.	.	ENSG00000125686	ENST00000300651	T	0.49139	0.79	5.59	0.884	0.19182	.	.	.	.	.	T	0.25269	0.0614	N	0.14661	0.345	0.36509	D	0.869482	B	0.23058	0.079	B	0.23574	0.047	T	0.18023	-1.0350	9	0.09843	T	0.71	2.8342	9.0782	0.36536	0.5401:0.0:0.4599:0.0	.	682	Q15648	MED1_HUMAN	T	682	ENSP00000300651:S682T	ENSP00000300651:S682T	S	-	1	0	MED1	34819956	0.989000	0.36119	0.921000	0.36526	0.904000	0.53231	1.350000	0.34010	0.081000	0.16988	-0.379000	0.06801	TCG		0.453	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256943.3	NM_004774		T	37566430	A	T	37566430	3	4	815	1	0	0	0	0	1	0	0	0	9427	304	11	5	2705	5	MED1	17	37566430	Missense_Mutation	SNP	A	TCGA-WN-AB4C-01A-11D-A42J-10	20449258	37566430	43628780	75	48911											
KRT24	192666	hgsc.bcm.edu	37	17	38858105	38858105	+	Silent	SNP	C	C	A			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr17:38858105C>A	ENST00000264651.2	-	2	752	c.696G>T	c.(694-696)ctG>ctT	p.L232L		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	232	Coil 1B.|Rod.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				TTTCTTACTTCAGTCTGAAGT	0.279																																					GBM(61;380 1051 14702 23642 31441)											0													77	70	73					17																	38858105		2203	4300	6503	SO:0001819	synonymous_variant	192666				CCDS11372.1	17q21.2	2013-06-25			ENSG00000167916	ENSG00000167916		"-", "Intermediate filaments type I, keratins (acidic)"	18527	protein-coding gene	gene with protein product		607742				16831889	Standard	NM_019016		Approved	FLJ20261, MGC138169, MGC138173	uc002hvd.3	Q2M2I5	OTTHUMG00000133372	ENST00000264651.2:c.696G>T	chr17.hg19:g.38858105C>A			Q9NXG7	Silent	SNP	ENST00000264651.2	hg19	CCDS11372.1																																																																																				0.279	KRT24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257217.1	NM_019016		A	38858105	C	A	38858105	2	1	815	1	0	0	0	0	0	0	0	1	8463	813	29	4		4	KRT24	17	38858105	Silent	SNP	C	TCGA-WN-AB4C-01A-11D-A42J-10	1291675	38858105	42337105	76	48912											
CCR10	2826	hgsc.bcm.edu	37	17	40831918	40831918	+	Missense_Mutation	SNP	C	C	G			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr17:40831918C>G	ENST00000332438.4	-	2	761	c.742G>C	c.(742-744)Gtc>Ctc	p.V248L	PLEKHH3_ENST00000412503.1_5'Flank|CNTNAP1_ENST00000264638.4_5'Flank|CTD-3193K9.4_ENST00000593139.1_RNA|PLEKHH3_ENST00000293349.6_5'Flank|CCR10_ENST00000591765.1_Missense_Mutation_p.V26L|PLEKHH3_ENST00000591022.1_5'Flank	NM_016602.2	NP_057686.2	P46092	CCR10_HUMAN	chemokine (C-C motif) receptor 10	248					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)|G-protein coupled receptor activity (GO:0004930)			lung(1)|ovary(1)|skin(1)	3		Breast(137;0.000153)		BRCA - Breast invasive adenocarcinoma(366;0.14)		GCCACCACGACGCGCAGCGCA	0.731																																																0													4	5	5					17																	40831918		1909	3828	5737	SO:0001583	missense	2826			AF215981	CCDS11435.1	17q21.1-q21.3	2012-08-08	2004-11-12	2004-11-12	ENSG00000184451	ENSG00000184451		"GPCR / Class A : Chemokine receptors : C-C motif"	4474	protein-coding gene	gene with protein product		600240	"G protein-coupled receptor 2"	GPR2		7851889	Standard	NM_016602		Approved		uc002iax.4	P46092	OTTHUMG00000132301	ENST00000332438.4:c.742G>C	chr17.hg19:g.40831918C>G	ENSP00000332504:p.Val248Leu		Q4V749|Q6T7X2|Q9NZG2	Missense_Mutation	SNP	ENST00000332438.4	hg19	CCDS11435.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.704066	0.68615	.	.	ENSG00000184451	ENST00000332438	T	0.35048	1.33	4.24	4.24	0.50183	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36740	N	0.002421	T	0.24470	0.0593	N	0.21508	0.67	0.30823	N	0.737579	B	0.33103	0.397	B	0.36608	0.229	T	0.15780	-1.0425	10	0.26408	T	0.33	.	9.4162	0.38523	0.2122:0.7878:0.0:0.0	.	248	P46092	CCR10_HUMAN	L	248	ENSP00000332504:V248L	ENSP00000332504:V248L	V	-	1	0	CCR10	38085444	0.699000	0.27786	0.998000	0.56505	0.949000	0.60115	1.382000	0.34374	2.192000	0.70111	0.462000	0.41574	GTC		0.731	CCR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255406.1	NM_016602		G	40831918	C	G	40831918	3	3	815	1	0	0	0	0	1	0	0	0	2942	536	19	4	350	4	CCR10	17	40831918	Missense_Mutation	SNP	C	TCGA-WN-AB4C-01A-11D-A42J-10	1973813	40831918	40363292	77	48913											
LGALS3BP	3959	hgsc.bcm.edu	37	17	76972059	76972059	+	Missense_Mutation	SNP	C	C	A			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr17:76972059C>A	ENST00000262776.3	-	3	540	c.232G>T	c.(232-234)Gcc>Tcc	p.A78S	LGALS3BP_ENST00000585407.1_Missense_Mutation_p.A78S|LGALS3BP_ENST00000591778.1_Missense_Mutation_p.A78S	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	78	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.				cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			TGCCCGAAGGCAGCTCTGCCC	0.642																																					GBM(89;1105 1755 18102 21513)											0													32	27	29					17																	76972059		2203	4300	6503	SO:0001583	missense	3959			L13210	CCDS11759.1	17q25	2014-07-09				ENSG00000108679		"BTB/POZ domain containing", "Endogenous ligands"	6564	protein-coding gene	gene with protein product	"L3 antigen", "Mac-2-binding protein", "serum protein 90K", "transport and golgi organization 10 homolog B (Drosophila)"	600626				7698018, 8034587, 8390986	Standard	NM_005567		Approved	MAC-2-BP, 90K, BTBD17B, TANGO10B, M2BP, gp90, CyCAP	uc002jwh.3	Q08380		ENST00000262776.3:c.232G>T	chr17.hg19:g.76972059C>A	ENSP00000262776:p.Ala78Ser		Q7M4S0|Q9UCH8|Q9UCH9|Q9UCI0	Missense_Mutation	SNP	ENST00000262776.3	hg19	CCDS11759.1	.	.	.	.	.	.	.	.	.	.	C	2.801	-0.249233	0.05867	.	.	ENSG00000108679	ENST00000262776;ENST00000536190	T	0.44482	0.92	3.54	0.364	0.16124	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.000000	0.37955	N	0.001871	T	0.28532	0.0706	L	0.43598	1.365	0.09310	N	1	B	0.13594	0.008	B	0.23716	0.048	T	0.15925	-1.0420	10	0.22706	T	0.39	-21.8161	5.4055	0.16318	0.0:0.6289:0.1678:0.2033	.	78	Q08380	LG3BP_HUMAN	S	78	ENSP00000262776:A78S	ENSP00000262776:A78S	A	-	1	0	LGALS3BP	74483654	0.000000	0.05858	0.132000	0.22025	0.005000	0.04900	0.048000	0.14078	0.137000	0.18759	-0.175000	0.13238	GCC		0.642	LGALS3BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437785.3	NM_005567		A	76972059	C	A	76972059	3	1	815	1	0	0	0	0	1	0	0	0	8746	710	25	4	1541	4	LGALS3BP	17	76972059	Missense_Mutation	SNP	C	TCGA-WN-AB4C-01A-11D-A42J-10	36140141	76972059	4223151	78	48914											
ILVBL	10994	hgsc.bcm.edu	37	19	15230035	15230035	+	Silent	SNP	G	G	C	rs372631950		TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr19:15230035G>C	ENST00000263383.3	-	9	1132	c.993C>G	c.(991-993)ctC>ctG	p.L331L	ILVBL_ENST00000531635.1_5'Flank|ILVBL_ENST00000534378.1_Silent_p.L224L	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	331						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						CCCGGATGTGGAGGGGGTGGT	0.642																																																0													63	60	61					19																	15230035		2203	4300	6503	SO:0001819	synonymous_variant	10994			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.993C>G	chr19.hg19:g.15230035G>C			O43341|Q96F08|Q99651|Q9BWN5|Q9UEB2	Silent	SNP	ENST00000263383.3	hg19	CCDS12325.1																																																																																				0.642	ILVBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385439.1	NM_006844		C	15230035	G	C	15230035	2	2	815	1	0	0	0	0	0	0	0	1	7717	1161	41	4		4	ILVBL	19	15230035	Silent	SNP	G	TCGA-WN-AB4C-01A-11D-A42J-10		15230035	43898948	79	48915											
OCEL1	79629	hgsc.bcm.edu	37	19	17338767	17338767	+	Missense_Mutation	SNP	A	A	G			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr19:17338767A>G	ENST00000215061.4	+	4	615	c.571A>G	c.(571-573)Agg>Ggg	p.R191G	OCEL1_ENST00000601529.1_Intron|OCEL1_ENST00000597836.1_Missense_Mutation_p.R135G	NM_024578.1	NP_078854.1	Q9H607	OCEL1_HUMAN	occludin/ELL domain containing 1	191										central_nervous_system(2)|endometrium(2)|kidney(1)|lung(2)	7						GGCAAAGCTCAGGCAGCTGGA	0.647																																																0													77	71	73					19																	17338767		2203	4300	6503	SO:0001583	missense	79629			BC029361	CCDS12351.1	19p13.11	2008-02-05				ENSG00000099330			26221	protein-coding gene	gene with protein product						12477932	Standard	NM_024578		Approved	FLJ22709	uc002nfp.3	Q9H607		ENST00000215061.4:c.571A>G	chr19.hg19:g.17338767A>G	ENSP00000215061:p.Arg191Gly			Missense_Mutation	SNP	ENST00000215061.4	hg19	CCDS12351.1	.	.	.	.	.	.	.	.	.	.	A	6.428	0.447122	0.12223	.	.	ENSG00000099330	ENST00000215061	T	0.22134	1.97	4.38	0.922	0.19408	Occludin/RNA polymerase II elongation factor, ELL domain (1);	0.416025	0.24722	N	0.036134	T	0.15132	0.0365	L	0.29908	0.895	0.09310	N	1	B	0.33777	0.425	B	0.39971	0.315	T	0.14448	-1.0472	10	0.46703	T	0.11	-49.3573	4.741	0.13012	0.4036:0.4895:0.0:0.107	.	191	Q9H607	OCEL1_HUMAN	G	191	ENSP00000215061:R191G	ENSP00000215061:R191G	R	+	1	2	OCEL1	17199767	0.033000	0.19621	0.011000	0.14972	0.023000	0.10783	0.392000	0.20801	0.090000	0.17273	-0.396000	0.06452	AGG		0.647	OCEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463307.1	NM_024578		G	17338767	A	G	17338767	3	3	815	1	0	0	0	0	1	0	0	0	10818	179	7	3	585	3	OCEL1	19	17338767	Missense_Mutation	SNP	A	TCGA-WN-AB4C-01A-11D-A42J-10	2108732	17338767	41790216	80	48916											
ZNF302	55900	hgsc.bcm.edu	37	19	35175271	35175271	+	Missense_Mutation	SNP	C	C	T			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr19:35175271C>T	ENST00000446502.2	+	6	669	c.461C>T	c.(460-462)tCa>tTa	p.S154L	ZNF302_ENST00000423823.2_Missense_Mutation_p.S110L|ZNF302_ENST00000505242.1_Missense_Mutation_p.S110L|ZNF302_ENST00000505365.2_3'UTR|ZNF302_ENST00000509528.1_3'UTR|ZNF302_ENST00000457781.2_Missense_Mutation_p.S110L|ZNF302_ENST00000507959.1_3'UTR			Q9NR11	ZN302_HUMAN	zinc finger protein 302	189					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TATGAATTTTCAAATTCTAAT	0.313																																																0													34	36	36					19																	35175271		2068	4215	6283	SO:0001583	missense	55900			AF155656	CCDS46042.1, CCDS74330.1, CCDS74331.1, CCDS74332.1, CCDS74333.1	19q13.2	2013-01-08			ENSG00000089335	ENSG00000089335		"Zinc fingers, C2H2-type", "-"	13848	protein-coding gene	gene with protein product							Standard	NM_018675		Approved	ZNF327, ZNF135L, ZNF140L	uc002nvq.1	Q9NR11	OTTHUMG00000163329	ENST00000446502.2:c.461C>T	chr19.hg19:g.35175271C>T	ENSP00000396379:p.Ser154Leu		Q658J3|Q9BZD8|Q9P0J4	Missense_Mutation	SNP	ENST00000446502.2	hg19		.	.	.	.	.	.	.	.	.	.	C	7.884	0.730866	0.15507	.	.	ENSG00000089335	ENST00000457781;ENST00000505242;ENST00000505163;ENST00000423823;ENST00000446502	T;T;T;T;T	0.05447	3.48;3.48;5.94;3.48;3.44	0.967	0.967	0.19674	.	.	.	.	.	T	0.06096	0.0158	L	0.49699	1.58	0.09310	N	1	B;B	0.27656	0.18;0.184	B;B	0.30029	0.11;0.1	T	0.42344	-0.9457	9	0.16896	T	0.51	.	5.2771	0.15655	0.0:1.0:0.0:0.0	.	154;110	E7EVR1;Q9NR11-2	.;.	L	110;110;110;110;154	ENSP00000391067:S110L;ENSP00000421028:S110L;ENSP00000421696:S110L;ENSP00000405219:S110L;ENSP00000396379:S154L	ENSP00000405219:S110L	S	+	2	0	ZNF302	39867111	0.970000	0.33590	0.035000	0.18076	0.038000	0.13279	1.590000	0.36654	0.822000	0.34565	0.467000	0.42956	TCA		0.313	ZNF302-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000372731.1			T	35175271	C	T	35175271	3	4	815	1	0	0	0	0	1	0	0	0	17837	838	29	2	343	2	ZNF302	19	35175271	Missense_Mutation	SNP	C	TCGA-WN-AB4C-01A-11D-A42J-10	17836504	35175271	23953712	81	48917											
DBP	1628	hgsc.bcm.edu	37	19	49136816	49136816	+	Missense_Mutation	SNP	C	C	T			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr19:49136816C>T	ENST00000222122.5	-	3	1090	c.647G>A	c.(646-648)aGc>aAc	p.S216N	DBP_ENST00000601104.1_Missense_Mutation_p.S216N|DBP_ENST00000593500.1_Missense_Mutation_p.S14N|DBP_ENST00000599385.1_Missense_Mutation_p.S14N	NM_001352.3	NP_001343.2	Q10586	DBP_HUMAN	D site of albumin promoter (albumin D-box) binding protein	216	Pro-rich (proline/acidic region (PAR)).				liver development (GO:0001889)|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)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)		GCCAGGAATGCTTGATAGGGC	0.547																																																0													206	187	194					19																	49136816		2203	4300	6503	SO:0001583	missense	1628			U06936	CCDS12728.1	19q13.33	2013-09-20			ENSG00000105516	ENSG00000105516			2697	protein-coding gene	gene with protein product		124097				1535333, 7835883	Standard	XR_243907		Approved	DABP	uc002pjx.4	Q10586	OTTHUMG00000183319	ENST00000222122.5:c.647G>A	chr19.hg19:g.49136816C>T	ENSP00000222122:p.Ser216Asn		A2I2P4	Missense_Mutation	SNP	ENST00000222122.5	hg19	CCDS12728.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.491562	0.84962	.	.	ENSG00000105516	ENST00000222122	.	.	.	4.9	4.9	0.64082	.	0.125072	0.56097	U	0.000037	T	0.76062	0.3935	M	0.80183	2.485	0.48452	D	0.99965	B	0.33826	0.427	B	0.43916	0.436	T	0.79470	-0.1790	9	0.72032	D	0.01	-16.9925	15.9611	0.79930	0.0:1.0:0.0:0.0	.	216	Q10586	DBP_HUMAN	N	216	.	ENSP00000222122:S216N	S	-	2	0	DBP	53828628	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.956000	0.70315	2.443000	0.82685	0.655000	0.94253	AGC		0.547	DBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466167.1	NM_001352		T	49136816	C	T	49136816	3	4	815	1	0	0	0	0	1	0	0	0	4258	797	28	2	338	2	DBP	19	49136816	Missense_Mutation	SNP	C	TCGA-WN-AB4C-01A-11D-A42J-10	13961545	49136816	9992167	82	48918											
ZNF615	284370	hgsc.bcm.edu	37	19	52496921	52496921	+	Missense_Mutation	SNP	C	C	G			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr19:52496921C>G	ENST00000602063.1	-	6	1757	c.1408G>C	c.(1408-1410)Gac>Cac	p.D470H	ZNF615_ENST00000391795.3_Missense_Mutation_p.D475H|ZNF615_ENST00000594083.1_Missense_Mutation_p.D481H|ZNF615_ENST00000376716.5_Missense_Mutation_p.D470H|ZNF615_ENST00000598071.1_Missense_Mutation_p.D481H			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	470					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		ACAATGAGGTCACTCTTCATG	0.448																																																0													117	94	102					19																	52496921		2203	4300	6503	SO:0001583	missense	284370			AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"Zinc fingers, C2H2-type", "-"	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.1408G>C	chr19.hg19:g.52496921C>G	ENSP00000473089:p.Asp470His		B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Missense_Mutation	SNP	ENST00000602063.1	hg19	CCDS12846.1	.	.	.	.	.	.	.	.	.	.	C	8.278	0.814789	0.16607	.	.	ENSG00000197619	ENST00000376716;ENST00000354939;ENST00000391795;ENST00000391793	T;T	0.07800	3.16;3.16	2.85	0.197	0.15164	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01905	0.0060	N	0.01631	-0.79	0.09310	N	1	B;B;B;B	0.29612	0.251;0.212;0.212;0.251	B;B;B;B	0.19666	0.026;0.015;0.015;0.026	T	0.42224	-0.9464	9	0.14656	T	0.56	.	0.347	0.00343	0.2249:0.3157:0.2214:0.238	.	475;477;481;470	B4DH87;Q8N8J6-3;Q8N8J6-2;Q8N8J6	.;.;.;ZN615_HUMAN	H	470;480;475;480	ENSP00000365906:D470H;ENSP00000375672:D475H	ENSP00000347019:D480H	D	-	1	0	ZNF615	57188733	0.000000	0.05858	0.070000	0.20053	0.934000	0.57294	-3.862000	0.00348	0.463000	0.27118	0.484000	0.47621	GAC		0.448	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	NM_198480		G	52496921	C	G	52496921	3	3	815	1	0	0	0	0	1	0	0	0	18045	826	29	4	791	4	ZNF615	19	52496921	Missense_Mutation	SNP	C	TCGA-WN-AB4C-01A-11D-A42J-10	3360105	52496921	6632062	83	48919											
GPCPD1	56261	hgsc.bcm.edu	37	20	5528358	5528358	+	Missense_Mutation	SNP	C	C	A			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr20:5528358C>A	ENST00000379019.4	-	20	2180	c.1968G>T	c.(1966-1968)gaG>gaT	p.E656D	GPCPD1_ENST00000481038.1_5'UTR	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN	glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)	656					glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)	glycerophosphocholine phosphodiesterase activity (GO:0047389)|starch binding (GO:2001070)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						GGATATCAGACTCCCCACACA	0.493																																																0													172	153	160					20																	5528358		2203	4300	6503	SO:0001583	missense	56261				CCDS13090.1	20p12.3	2011-01-25			ENSG00000125772	ENSG00000125772			26957	protein-coding gene	gene with protein product		614124				10718198, 20576599	Standard	NM_019593		Approved	KIAA1434, GDE5, GDPD6	uc002wme.4	Q9NPB8	OTTHUMG00000031806	ENST00000379019.4:c.1968G>T	chr20.hg19:g.5528358C>A	ENSP00000368305:p.Glu656Asp		D3DW06|Q9BQL8|Q9NUX0	Missense_Mutation	SNP	ENST00000379019.4	hg19	CCDS13090.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	0.001|0.001	-2.880142|-2.880142	0.00061|0.00061	.|.	.|.	ENSG00000125772|ENSG00000125772	ENST00000378992;ENST00000379019|ENST00000418646	T|.	0.45276|.	0.9|.	5.1|5.1	-4.36|-4.36	0.03645|0.03645	.|.	0.767687|.	0.12385|.	N|.	0.473542|.	T|T	0.17066|0.17066	0.0410|0.0410	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.27054|0.27054	-1.0085|-1.0085	10|5	0.17832|.	T|.	0.49|.	-3.4601|-3.4601	2.3414|2.3414	0.04261|0.04261	0.3675:0.2675:0.239:0.126|0.3675:0.2675:0.239:0.126	.|.	656|.	Q9NPB8|.	GPCP1_HUMAN|.	D|F	273;656|248	ENSP00000368305:E656D|.	ENSP00000368277:E273D|.	E|V	-|-	3|1	2|0	GPCPD1|GPCPD1	5476358|5476358	0.000000|0.000000	0.05858|0.05858	0.011000|0.011000	0.14972|0.14972	0.022000|0.022000	0.10575|0.10575	-0.385000|-0.385000	0.07379|0.07379	-0.580000|-0.580000	0.05944|0.05944	-2.769000|-2.769000	0.00120|0.00120	GAG|GTC		0.493	GPCPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077869.1	NM_019593		A	5528358	C	A	5528358	3	1	815	1	0	0	0	0	1	0	0	0	6605	564	20	4	54	4	GPCPD1	20	5528358	Missense_Mutation	SNP	C	TCGA-WN-AB4C-01A-11D-A42J-10		5528358	57497162	84	48920											
MYT1	4661	hgsc.bcm.edu	37	20	62839660	62839660	+	Missense_Mutation	SNP	G	G	A			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr20:62839660G>A	ENST00000328439.1	+	7	1475	c.1111G>A	c.(1111-1113)Gac>Aac	p.D371N	MYT1_ENST00000536311.1_Missense_Mutation_p.D371N|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)					GGAGATGCAGGACATGATGAC	0.622																																					GBM(59;481 1041 20555 21139 33705)											0													81	74	77					20																	62839660		2203	4300	6503	SO:0001583	missense	4661			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.1111G>A	chr20.hg19:g.62839660G>A	ENSP00000327465:p.Asp371Asn		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000328439.1	hg19	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	g	17.27	3.348108	0.61183	.	.	ENSG00000196132	ENST00000328439;ENST00000536311	T;T	0.29142	2.62;1.58	4.46	4.46	0.54185	.	0.055231	0.64402	D	0.000001	T	0.51686	0.1689	M	0.67700	2.07	0.80722	D	1	D;D	0.71674	0.998;0.983	D;P	0.81914	0.995;0.824	T	0.47420	-0.9119	10	0.17369	T	0.5	-22.5659	17.157	0.86794	0.0:0.0:1.0:0.0	.	371;371	F5H7M8;Q01538	.;MYT1_HUMAN	N	371	ENSP00000327465:D371N;ENSP00000442412:D371N	ENSP00000327465:D371N	D	+	1	0	MYT1	62310104	1.000000	0.71417	0.902000	0.35471	0.467000	0.32768	9.529000	0.98049	2.051000	0.60960	0.450000	0.29827	GAC		0.622	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		A	62839660	G	A	62839660	3	1	815	1	0	0	0	0	1	0	0	0	10108	1174	41	2	1129	2	MYT1	20	62839660	Missense_Mutation	SNP	G	TCGA-WN-AB4C-01A-11D-A42J-10	57311302	62839660	185860	85	48921											
MRPL39	54148	hgsc.bcm.edu	37	21	26979768	26979768	+	Missense_Mutation	SNP	C	C	T	rs115649519	byFrequency	TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr21:26979768C>T	ENST00000352957.4	-	1	61	c.20G>A	c.(19-21)gGt>gAt	p.G7D	MRPL39_ENST00000307301.7_Missense_Mutation_p.G7D	NM_017446.3	NP_059142	Q9NYK5	RM39_HUMAN	mitochondrial ribosomal protein L39	7						mitochondrial ribosome (GO:0005761)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	10						CGCCCGGGAACCCATGGCCAG	0.667											OREG0026146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													42	45	44					21																	26979768		2203	4300	6503	SO:0001583	missense	54148			AB051346	CCDS13573.1, CCDS33522.1	21q11.2-q21	2012-09-13			ENSG00000154719	ENSG00000154719		"Mitochondrial ribosomal proteins / large subunits"	14027	protein-coding gene	gene with protein product		611845				11543634	Standard	NM_080794		Approved	RPML5, MRP-L5, MGC104174, PRED66, PRED22, C21orf92, L39mt, MSTP003, MGC3400, FLJ20451	uc002yln.3	Q9NYK5	OTTHUMG00000078371	ENST00000352957.4:c.20G>A	chr21.hg19:g.26979768C>T	ENSP00000284967:p.Gly7Asp	790	C9JYA5|Q32Q74|Q5QTR3|Q96Q65|Q9BSQ7|Q9BZV6|Q9NX44	Missense_Mutation	SNP	ENST00000352957.4	hg19	CCDS13573.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.214123	0.39102	.	.	ENSG00000154719	ENST00000352957;ENST00000307301;ENST00000419219	T;T;T	0.42131	0.98;0.98;0.98	4.08	-1.2	0.09554	.	1.221540	0.06023	N	0.651593	T	0.23492	0.0568	N	0.08118	0	0.09310	N	1	P;P	0.36837	0.571;0.571	B;B	0.35688	0.161;0.208	T	0.28235	-1.0050	10	0.72032	D	0.01	-9.7196	8.1526	0.31150	0.2611:0.2352:0.5037:0.0	.	7;7	Q9NYK5;Q9NYK5-2	RM39_HUMAN;.	D	7	ENSP00000284967:G7D;ENSP00000305682:G7D;ENSP00000404426:G7D	ENSP00000305682:G7D	G	-	2	0	MRPL39	25901639	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.262000	0.18460	-0.234000	0.09782	0.655000	0.94253	GGT		0.667	MRPL39-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000171194.1	NM_017446		T	26979768	C	T	26979768	3	4	815	1	0	0	0	0	1	0	0	0	9804	507	18	2	1129	2	MRPL39	21	26979768	Missense_Mutation	SNP	C	TCGA-WN-AB4C-01A-11D-A42J-10		26979768	21150127	86	48922											
TUBA8	51807	hgsc.bcm.edu	37	22	18609451	18609451	+	Missense_Mutation	SNP	T	T	C			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr22:18609451T>C	ENST00000330423.3	+	4	779	c.706T>C	c.(706-708)Tcc>Ccc	p.S236P	TUBA8_ENST00000316027.6_Missense_Mutation_p.S170P	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	236					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						TCAGATTGTGTCCTCAATCAC	0.557																																																0													149	128	135					22																	18609451		2203	4300	6503	SO:0001583	missense	51807			AJ245922	CCDS13751.1, CCDS54495.1	22q11	2005-06-11			ENSG00000183785	ENSG00000183785		"Tubulins"	12410	protein-coding gene	gene with protein product		605742		TUBAL2		10772959, 10591208	Standard	NM_001193414		Approved		uc002znv.2	Q9NY65	OTTHUMG00000150097	ENST00000330423.3:c.706T>C	chr22.hg19:g.18609451T>C	ENSP00000333326:p.Ser236Pro		B2RCX2|B3KPW9|B4DWG3|Q2M3N4	Missense_Mutation	SNP	ENST00000330423.3	hg19	CCDS13751.1	.	.	.	.	.	.	.	.	.	.	.	17.58	3.426055	0.62733	.	.	ENSG00000183785	ENST00000316027;ENST00000330423;ENST00000416740	T;T;T	0.71103	-0.54;-0.54;-0.54	5.67	5.67	0.87782	Tubulin/FtsZ, GTPase domain (3);	0.000000	0.85682	D	0.000000	D	0.87277	0.6137	M	0.91459	3.21	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.986;0.978;0.999	D	0.90047	0.4146	10	0.87932	D	0	.	15.3851	0.74691	0.0:0.0:0.0:1.0	.	170;260;236	B3KPW9;C9J2C0;Q9NY65	.;.;TBA8_HUMAN	P	170;236;260	ENSP00000318575:S170P;ENSP00000333326:S236P;ENSP00000412646:S260P	ENSP00000318575:S170P	S	+	1	0	TUBA8	16989451	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.040000	0.89188	2.288000	0.76882	0.533000	0.62120	TCC		0.557	TUBA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316232.3	NM_018943		C	18609451	T	C	18609451	3	2	815	1	0	0	0	0	1	0	0	0	16755	1667	58	3	720	3	TUBA8	22	18609451	Missense_Mutation	SNP	T	TCGA-WN-AB4C-01A-11D-A42J-10		18609451	32695115	87	48923											
LZTR1	8216	hgsc.bcm.edu	37	22	21340180	21340180	+	Missense_Mutation	SNP	G	G	T			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr22:21340180G>T	ENST00000215739.8	+	3	673	c.314G>T	c.(313-315)tGg>tTg	p.W105L	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Intron	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	105					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)	p.W105L(1)		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)			GACTGCTCCTGGTGCAGGTGG	0.582																																																1	Substitution - Missense(1)	ovary(1)											86	67	74					22																	21340180		2203	4300	6503	SO:0001583	missense	8216			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.314G>T	chr22.hg19:g.21340180G>T	ENSP00000215739:p.Trp105Leu		Q14776|Q20WK0	Missense_Mutation	SNP	ENST00000215739.8	hg19	CCDS33606.1	.	.	.	.	.	.	.	.	.	.	G	31	5.075613	0.94000	.	.	ENSG00000099949	ENST00000539817;ENST00000215739	T	0.61627	0.09	4.52	4.52	0.55395	.	0.145322	0.53938	D	0.000057	D	0.83940	0.5363	H	0.97491	4.015	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.87578	0.998;0.991	D	0.89514	0.3773	10	0.87932	D	0	-23.9298	15.1436	0.72630	0.0:0.0:1.0:0.0	.	105;64	Q8N653;F5GXU8	LZTR1_HUMAN;.	L	64;105	ENSP00000215739:W105L	ENSP00000215739:W105L	W	+	2	0	LZTR1	19670180	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.398000	0.97281	2.516000	0.84829	0.643000	0.83706	TGG		0.582	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1	NM_006767		T	21340180	G	T	21340180	3	4	815	1	0	0	0	0	1	0	0	0	9139	1357	47	4	324	4	LZTR1	22	21340180	Missense_Mutation	SNP	G	TCGA-WN-AB4C-01A-11D-A42J-10	2730729	21340180	29964386	88	48924											
CACNG2	10369	hgsc.bcm.edu	37	22	37098524	37098524	+	Missense_Mutation	SNP	C	C	G			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr22:37098524C>G	ENST00000300105.6	-	1	1079	c.98G>C	c.(97-99)tGg>tCg	p.W33S	RP1-293L6.1_ENST00000430281.1_RNA	NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	33					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						GGAGTAGAGCCAATAGTCGGT	0.473																																																0													228	202	211					22																	37098524		2203	4300	6503	SO:0001583	missense	10369			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.98G>C	chr22.hg19:g.37098524C>G	ENSP00000300105:p.Trp33Ser		Q2M1M1|Q5TGT3|Q9UGZ7	Missense_Mutation	SNP	ENST00000300105.6	hg19	CCDS13931.1	.	.	.	.	.	.	.	.	.	.	c	16.00	2.997271	0.54147	.	.	ENSG00000166862	ENST00000300105	D	0.98493	-4.96	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	D	0.98280	0.9430	M	0.90650	3.135	0.80722	D	1	P	0.41748	0.761	B	0.42361	0.385	D	0.99919	1.1242	10	0.87932	D	0	-4.7655	17.8661	0.88795	0.0:1.0:0.0:0.0	.	33	Q9Y698	CCG2_HUMAN	S	33	ENSP00000300105:W33S	ENSP00000300105:W33S	W	-	2	0	CACNG2	35428470	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.565000	0.67365	2.192000	0.70111	0.546000	0.68486	TGG		0.473	CACNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075500.2			G	37098524	C	G	37098524	3	3	815	1	0	0	0	0	1	0	0	0	2559	595	21	4	889	4	CACNG2	22	37098524	Missense_Mutation	SNP	C	TCGA-WN-AB4C-01A-11D-A42J-10	15758344	37098524	14206042	89	48925											
UPK3A	7380	hgsc.bcm.edu	37	22	45689097	45689097	+	Missense_Mutation	SNP	C	C	T	rs200899354		TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr22:45689097C>T	ENST00000216211.4	+	5	639	c.607C>T	c.(607-609)Cgg>Tgg	p.R203W	UPK3A_ENST00000396082.2_Missense_Mutation_p.R82W	NM_006953.3	NP_008884.1	O75631	UPK3A_HUMAN	uroplakin 3A	203					cell morphogenesis (GO:0000902)|epithelial cell differentiation (GO:0030855)|kidney development (GO:0001822)|potassium ion homeostasis (GO:0055075)|sodium ion homeostasis (GO:0055078)|urea transport (GO:0015840)|urinary bladder development (GO:0060157)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		GTGGCCAGGCCGGCGGAGCGG	0.617																																																0													136	94	108					22																	45689097		2203	4300	6503	SO:0001583	missense	7380			AB010637	CCDS14064.1, CCDS54539.1	22q13.31	2005-11-14	2003-07-29	2003-07-30	ENSG00000100373	ENSG00000100373			12580	protein-coding gene	gene with protein product		611559	"uroplakin 3"	UPK3		9818021	Standard	NM_006953		Approved		uc003bfy.3	O75631	OTTHUMG00000151339	ENST00000216211.4:c.607C>T	chr22.hg19:g.45689097C>T	ENSP00000216211:p.Arg203Trp		B0QY25|O60261|Q32N05|Q5TII6	Missense_Mutation	SNP	ENST00000216211.4	hg19	CCDS14064.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.480696	0.63849	.	.	ENSG00000100373	ENST00000216211;ENST00000396082	T;D	0.86164	-0.29;-2.08	5.2	1.63	0.23807	.	0.236572	0.34484	N	0.003922	D	0.90359	0.6983	L	0.56280	1.765	0.39790	D	0.972412	D;P	0.89917	1.0;0.534	D;B	0.91635	0.999;0.097	D	0.90197	0.4254	10	0.87932	D	0	-19.1562	11.5381	0.50651	0.6617:0.3383:0.0:0.0	.	82;203	O75631-2;O75631	.;UPK3A_HUMAN	W	203;82	ENSP00000216211:R203W;ENSP00000379391:R82W	ENSP00000216211:R203W	R	+	1	2	UPK3A	44067761	0.991000	0.36638	0.998000	0.56505	0.998000	0.95712	0.578000	0.23773	0.544000	0.28883	0.650000	0.86243	CGG		0.617	UPK3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000322276.1	NM_006953		T	45689097	C	T	45689097	3	4	815	1	0	0	0	0	1	0	0	0	17015	643	23	1	625	1	UPK3A	22	45689097	Missense_Mutation	SNP	C	TCGA-WN-AB4C-01A-11D-A42J-10	8590573	45689097	5615469	90	48926											
MXRA5	25878	hgsc.bcm.edu	37	X	3242168	3242168	+	Missense_Mutation	SNP	T	T	C			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chrX:3242168T>C	ENST00000217939.6	-	5	1712	c.1558A>G	c.(1558-1560)Atc>Gtc	p.I520V		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	520	Ig-like C2-type 1.					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)				GCTTTCAGGATGGAGCCATCT	0.532																																																0													57	52	54					X																	3242168		2203	4300	6503	SO:0001583	missense	25878			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.1558A>G	chrX.hg19:g.3242168T>C	ENSP00000217939:p.Ile520Val		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	hg19	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	T	0	-2.732748	0.00089	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.65916	-0.18	3.63	0.014	0.14098	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.103140	0.07167	N	0.851802	T	0.31638	0.0803	N	0.03194	-0.395	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.23261	-1.0193	10	0.02654	T	1	.	7.5318	0.27687	0.0:0.341:0.0:0.659	.	520	Q9NR99	MXRA5_HUMAN	V	520	ENSP00000217939:I520V	ENSP00000217939:I520V	I	-	1	0	MXRA5	3252168	0.000000	0.05858	0.000000	0.03702	0.278000	0.26855	0.427000	0.21379	0.001000	0.14605	-0.517000	0.04412	ATC		0.532	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		C	3242168	T	C	3242168	3	2	815	1	0	0	0	0	1	0	0	0	10005	1464	51	3	6940	3	MXRA5	23	3242168	Missense_Mutation	SNP	T	TCGA-WN-AB4C-01A-11D-A42J-10		3242168	152028392	91	48927											
P2RY10	27334	hgsc.bcm.edu	37	X	78216602	78216602	+	Silent	SNP	G	G	A			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chrX:78216602G>A	ENST00000171757.2	+	4	865	c.585G>A	c.(583-585)ttG>ttA	p.L195L	P2RY10_ENST00000544091.1_Silent_p.L195L	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	195						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)	p.L195F(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						CAGTTGCGTTGGTCGGGATGA	0.458																																																1	Substitution - Missense(1)	large_intestine(1)											162	120	134					X																	78216602		2203	4300	6503	SO:0001819	synonymous_variant	27334			AF000545	CCDS14442.1	Xq21.1	2012-08-23			ENSG00000078589	ENSG00000078589		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	19906	protein-coding gene	gene with protein product		300529				11004484, 9755289	Standard	NM_014499		Approved	P2Y10	uc004edf.3	O00398	OTTHUMG00000021896	ENST00000171757.2:c.585G>A	chrX.hg19:g.78216602G>A			D3DTE5|Q4VBN7|Q86V16	Silent	SNP	ENST00000171757.2	hg19	CCDS14442.1																																																																																				0.458	P2RY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057323.1			A	78216602	G	A	78216602	2	1	815	1	0	0	0	0	0	0	0	1	11349	1339	47	2		2	P2RY10	23	78216602	Silent	SNP	G	TCGA-WN-AB4C-01A-11D-A42J-10	74974434	78216602	77053958	92	48928											
FRMD7	90167	hgsc.bcm.edu	37	X	131212370	131212370	+	Missense_Mutation	SNP	C	C	T	rs140383991		TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chrX:131212370C>T	ENST00000298542.4	-	12	1850	c.1675G>A	c.(1675-1677)Ggt>Agt	p.G559S	FRMD7_ENST00000370879.1_Missense_Mutation_p.G439S|FRMD7_ENST00000464296.1_Missense_Mutation_p.G544S	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	559					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)					TTGCTCCTACCGCTAGTCCTG	0.448													C|||	2	0.000529801	0.0015	0.0	3775	,	,		15652	0.0		0.0	False		,,,				2504	0.0															0								C	SER/GLY	0,3835		0,0,0,1632,571	150	139	143		1675	3.3	0.5	X	dbSNP_134	143	1,6727		0,0,1,2428,1871	no	missense	FRMD7	NM_194277.2	56	0,0,1,4060,2442	TT,TC,T,CC,C		0.0149,0.0,0.0095	benign	559/715	131212370	1,10562	2203	4300	6503	SO:0001583	missense	90167			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.1675G>A	chrX.hg19:g.131212370C>T	ENSP00000298542:p.Gly559Ser		C0LLJ3|Q5JX99	Missense_Mutation	SNP	ENST00000298542.4	hg19	CCDS35397.1	.	.	.	.	.	.	.	.	.	.	C	2.408	-0.335970	0.05278	0.0	1.49E-4	ENSG00000165694	ENST00000370879;ENST00000298542;ENST00000464296	D;D;D	0.86097	-2.07;-1.73;-1.83	5.26	3.33	0.38152	.	0.116186	0.39210	N	0.001440	T	0.77785	0.4182	L	0.61218	1.895	0.09310	N	1	B;B	0.22746	0.074;0.029	B;B	0.15870	0.01;0.014	T	0.63607	-0.6599	10	0.37606	T	0.19	.	2.8408	0.05528	0.2811:0.4776:0.1451:0.0962	.	544;559	Q6ZUT3-2;Q6ZUT3	.;FRMD7_HUMAN	S	439;559;544	ENSP00000359916:G439S;ENSP00000298542:G559S;ENSP00000417996:G544S	ENSP00000298542:G559S	G	-	1	0	FRMD7	131040051	0.001000	0.12720	0.535000	0.28026	0.006000	0.05464	0.170000	0.16663	2.190000	0.69967	0.594000	0.82650	GGT		0.448	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355031.1	NM_194277		T	131212370	C	T	131212370	3	4	815	1	0	0	0	0	1	0	0	0	6057	652	23	1	473	1	FRMD7	23	131212370	Missense_Mutation	SNP	C	TCGA-WN-AB4C-01A-11D-A42J-10	52995768	131212370	24058190	93	48929											
MMEL1	79258	hgsc.bcm.edu	37	1	2560821	2560821	+	Missense_Mutation	SNP	G	G	C			TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr1:2560821G>C	ENST00000378412.3	-	2	264	c.103C>G	c.(103-105)Ctg>Gtg	p.L35V	MMEL1_ENST00000511099.1_5'Flank|MMEL1_ENST00000502556.1_Missense_Mutation_p.L35V|MMEL1_ENST00000288709.6_Missense_Mutation_p.L26V			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	35						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)		GCGGTCACcagcagcagcagc	0.741																																																0													11	12	12					1																	2560821		1935	3820	5755	SO:0001583	missense	79258			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.103C>G	chr1.hg19:g.2560821G>C	ENSP00000367668:p.Leu35Val		B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Missense_Mutation	SNP	ENST00000378412.3	hg19	CCDS30569.2	.	.	.	.	.	.	.	.	.	.	g	11.62	1.692616	0.30052	.	.	ENSG00000142606	ENST00000378411;ENST00000288709;ENST00000378412;ENST00000502556	D;D;D	0.91295	-1.94;-2.1;-2.82	3.02	2.09	0.27110	.	0.745425	0.11907	N	0.518068	D	0.91199	0.7227	L	0.47016	1.485	0.36062	D	0.84151	D	0.69078	0.997	D	0.78314	0.991	D	0.86623	0.1880	10	0.19590	T	0.45	-17.4114	6.0244	0.19646	0.1499:0.0:0.8501:0.0	.	35	Q495T6	MMEL1_HUMAN	V	35;26;35;35	ENSP00000288709:L26V;ENSP00000367668:L35V;ENSP00000422492:L35V	ENSP00000288709:L26V	L	-	1	2	MMEL1	2550681	0.981000	0.34729	0.993000	0.49108	0.754000	0.42855	4.457000	0.60088	0.604000	0.29930	0.455000	0.32223	CTG		0.741	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002395.2	NM_033467		C	2560821	G	C	2560821	3	2	816	1	0	0	0	0	1	0	0	0	9648	962	34	4	2328	4	MMEL1	1	2560821	Missense_Mutation	SNP	G	TCGA-Y8-A894-01A-11D-A35Z-10		2560821	246689800	1	48930											
PRAMEF1	65121	hgsc.bcm.edu	37	1	12855755	12855756	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr1:12855755_12855756insAA	ENST00000332296.7	+	4	1138_1139	c.1035_1036insAA	c.(1036-1038)aaafs	p.K346fs	PRAMEF1_ENST00000400814.3_Frame_Shift_Ins_p.K101fs	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	346					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)		CTCTGCTGGAGAAAATTGCTGC	0.559																																																0																																										SO:0001589	frameshift_variant	65121			AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"-"	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.1038_1039dupAA	chr1.hg19:g.12855758_12855759dupAA	ENSP00000332134:p.Lys346fs		Q9UQP2	Frame_Shift_Ins	INS	ENST00000332296.7	hg19	CCDS148.1																																																																																				0.559	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		AA	12855756	-	AA	12855755	7	5	816	1	0	1	1	0	0	0	0	0	12430	933	33	0	1045	0	PRAMEF1	1	12855755	Frame_Shift_Ins	INS	-	TCGA-Y8-A894-01A-11D-A35Z-10	10294934	12855755	236394866	2	48931											
C1orf89	79363	hgsc.bcm.edu	37	1	16563166	16563167	+	Frame_Shift_Ins	INS	-	-	T			TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr1:16563166_16563167insT	ENST00000375599.3	-	1	490_491	c.71_72insA	c.(70-72)tacfs	p.Y24fs		NM_030907.3	NP_112169.2	Q9BU20	RSG1_HUMAN	REM2 and RAB-like small GTPase 1	24					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						TGCAAGCCAGGTACTCCTTGCC	0.639																																																0																																										SO:0001589	frameshift_variant	79363			BC008702	CCDS171.1	1p36.13	2014-02-21	2011-02-22	2011-02-22	ENSG00000132881	ENSG00000132881			28127	protein-coding gene	gene with protein product	"Rem/Rab-Similar GTPase 1"		"chromosome 1 open reading frame 89"	C1orf89		19767740	Standard	NM_030907		Approved	MGC10731	uc001ayd.3	Q9BU20	OTTHUMG00000002214	ENST00000375599.3:c.72dupA	chr1.hg19:g.16563167_16563167dupT	ENSP00000364749:p.Tyr24fs		Q5TEV7	Frame_Shift_Ins	INS	ENST00000375599.3	hg19	CCDS171.1																																																																																				0.639	RSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006279.2	NM_030907		T	16563167	-	T	16563166	7	5	816	1	0	1	1	0	0	0	0	0	2068	1256	44	0	724	0	C1orf89	1	16563166	Frame_Shift_Ins	INS	-	TCGA-Y8-A894-01A-11D-A35Z-10	3707411	16563166	232687455	3	48932											
CAMK2N1	55450	hgsc.bcm.edu	37	1	20811794	20811796	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	AGG	AGG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr1:20811794_20811796delAGG	ENST00000375078.3	-	1	917_919	c.77_79delCCT	c.(76-81)tcctgc>tgc	p.S26del	CAMK2N1_ENST00000489020.1_5'Flank	NM_018584.5	NP_061054.2	Q7Z7J9	CK2N1_HUMAN	calcium/calmodulin-dependent protein kinase II inhibitor 1	26						cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	calcium-dependent protein kinase inhibitor activity (GO:0008427)			lung(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.0013)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		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;0.00116)|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)		TGCAGGCGGCAGGAGAAGATCTG	0.709																																																0																																										SO:0001651	inframe_deletion	55450			AY204901	CCDS207.1	1p36.12	2008-02-05			ENSG00000162545	ENSG00000162545			24190	protein-coding gene	gene with protein product		614986				12477932	Standard	NM_018584		Approved	CaMKIINalpha	uc001bdh.3	Q7Z7J9	OTTHUMG00000002837	ENST00000375078.3:c.77_79delCCT	chr1.hg19:g.20811794_20811796delAGG	ENSP00000364219:p.Ser26del			In_Frame_Del	DEL	ENST00000375078.3	hg19	CCDS207.1																																																																																				0.709	CAMK2N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007949.1	NM_018584		-	20811796	AGG	-	20811794	7	5	816	1	0	1	0	1	0	0	0	0	2605	188	7	0	165	0	CAMK2N1	1	20811794	In_Frame_Del	DEL	AGG	TCGA-Y8-A894-01A-11D-A35Z-10	4248628	20811794	228438827	4	48933											
RNF19B	127544	hgsc.bcm.edu	37	1	33429684	33429684	+	Silent	SNP	G	G	T	rs369366328	byFrequency	TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr1:33429684G>T	ENST00000373456.7	-	1	602	c.603C>A	c.(601-603)ccC>ccA	p.P201P	RNF19B_ENST00000235150.4_Silent_p.P201P|RNF19B_ENST00000356990.5_Silent_p.P201P	NM_153341.2	NP_699172.2	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B	201					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)				AGCGGCAGTCGGGGTCCGAGG	0.736																																																0													15	12	13					1																	33429684		1776	3352	5128	SO:0001819	synonymous_variant	127544			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.603C>A	chr1.hg19:g.33429684G>T			B7ZLB2|E9PAW6|G3XA82|Q0VG77|Q5TH44|Q5TH45|Q6P6A4|Q8N2S8|Q8WUF3	Silent	SNP	ENST00000373456.7	hg19	CCDS372.2																																																																																				0.736	RNF19B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011465.3	NM_153341		T	33429684	G	T	33429684	2	4	816	1	0	0	0	0	0	0	0	1	13477	1103	39	4		4	RNF19B	1	33429684	Silent	SNP	G	TCGA-Y8-A894-01A-11D-A35Z-10	12617890	33429684	215820937	5	48934											
ANGPTL3	27329	hgsc.bcm.edu	37	1	63070461	63070462	+	Frame_Shift_Ins	INS	-	-	C			TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr1:63070461_63070462insC	ENST00000371129.3	+	7	1436_1437	c.1356_1357insC	c.(1357-1359)ccafs	p.P453fs	DOCK7_ENST00000404627.2_Intron|DOCK7_ENST00000251157.5_Intron|DOCK7_ENST00000340370.5_Intron|AL138847.1_ENST00000593719.1_5'Flank	NM_014495.2	NP_055310.1	Q9Y5C1	ANGL3_HUMAN	angiopoietin-like 3	453	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				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						TGTTGATCCATCCAACAGATTC	0.337																																																0																																										SO:0001589	frameshift_variant	27329			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.1358dupC	chr1.hg19:g.63070463_63070463dupC	ENSP00000360170:p.Pro453fs		A0JLS0|B1ALJ0|B2RCW1	Frame_Shift_Ins	INS	ENST00000371129.3	hg19	CCDS622.1																																																																																				0.337	ANGPTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025344.1	NM_014495		C	63070462	-	C	63070461	7	5	816	1	0	1	1	0	0	0	0	0	615	1432	50	0	1382	0	ANGPTL3	1	63070461	Frame_Shift_Ins	INS	-	TCGA-Y8-A894-01A-11D-A35Z-10	29640777	63070461	186180160	6	48935											
MOV10	4343	hgsc.bcm.edu	37	1	113237494	113237494	+	Silent	SNP	C	C	A			TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr1:113237494C>A	ENST00000413052.2	+	10	1986	c.1596C>A	c.(1594-1596)gtC>gtA	p.V532V	MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000369644.1_Silent_p.V476V|RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000369645.1_Silent_p.V532V|MOV10_ENST00000357443.2_Silent_p.V532V	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	532					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		GCAAGACTGTCACGTTAGTGG	0.582																																																0													58	53	55					1																	113237494		2203	4300	6503	SO:0001819	synonymous_variant	4343			AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 113"	610742	"Mov10 (Moloney leukemia virus 10, mouse) homolog", "Mov10, Moloney leukemia virus 10, homolog (mouse)"			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.1596C>A	chr1.hg19:g.113237494C>A			Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Silent	SNP	ENST00000413052.2	hg19	CCDS853.1																																																																																				0.582	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1	NM_020963		A	113237494	C	A	113237494	2	1	816	1	0	0	0	0	0	0	0	1	9720	813	29	4		4	MOV10	1	113237494	Silent	SNP	C	TCGA-Y8-A894-01A-11D-A35Z-10	50167033	113237494	136013127	7	48936											
LCE4A	199834	hgsc.bcm.edu	37	1	152681689	152681689	+	Silent	SNP	G	G	C	rs200223098	byFrequency	TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr1:152681689G>C	ENST00000368777.1	+	2	394	c.138G>C	c.(136-138)ggG>ggC	p.G46G	LCE4A_ENST00000335535.3_Silent_p.G46G			Q5TA78	LCE4A_HUMAN	late cornified envelope 4A	46	Cys-rich.				keratinization (GO:0031424)					endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.116)			CCAGCTCTGGGGGCTGTGGTT	0.577													G|||	245	0.0489217	0.003	0.0821	5008	,	,		16464	0.129		0.0109	False		,,,				2504	0.044															0													81	94	90					1																	152681689		2203	4300	6503	SO:0001819	synonymous_variant	199834			BI670517	CCDS1022.1	1q22	2008-02-05	2004-10-11	2004-10-15	ENSG00000187170	ENSG00000187170		"Late cornified envelopes"	16613	protein-coding gene	gene with protein product		612618	"small proline rich-like (epidermal differentiation complex) 4A"	SPRL4A		11698679	Standard	NM_178356		Approved	LEP8	uc001fak.2	Q5TA78	OTTHUMG00000014394	ENST00000368777.1:c.138G>C	chr1.hg19:g.152681689G>C			Q14D97	Silent	SNP	ENST00000368777.1	hg19	CCDS1022.1																																																																																				0.577	LCE4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040048.1	NM_178356		C	152681689	G	C	152681689	2	2	816	1	0	0	0	0	0	0	0	1	8676	1219	43	4		4	LCE4A	1	152681689	Silent	SNP	G	TCGA-Y8-A894-01A-11D-A35Z-10	39444195	152681689	96568932	8	48937											
PIGM	93183	hgsc.bcm.edu	37	1	160001302	160001303	+	Frame_Shift_Ins	INS	-	-	T			TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr1:160001302_160001303insT	ENST00000368090.2	-	1	480_481	c.227_228insA	c.(226-228)tacfs	p.Y76fs		NM_145167.2	NP_660150.1	Q9H3S5	PIGM_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class M	76					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)	mannosyltransferase activity (GO:0000030)			kidney(1)|large_intestine(4)|lung(9)|ovary(2)|skin(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCAGCGGGGTGTAACGGTACGT	0.594																																																0																																										SO:0001589	frameshift_variant	93183			AB028127	CCDS1192.1	1q23.2	2013-02-26	2006-06-28		ENSG00000143315	ENSG00000143315		"Dolichyl D-mannosyl phosphate dependent mannosyltransferases", "Phosphatidylinositol glycan anchor biosynthesis"	18858	protein-coding gene	gene with protein product	"GPI mannosyltransferase 1", "DPM:GlcN-(acyl-)PI mannosyltransferase", "dol-P-Man dependent GPI mannosyltransferase"	610273	"phosphatidylinositol glycan, class M"			11226175	Standard	NM_145167		Approved	GPI-MT-I	uc001fuv.1	Q9H3S5	OTTHUMG00000024081	ENST00000368090.2:c.228dupA	chr1.hg19:g.160001303_160001303dupT	ENSP00000357069:p.Tyr76fs			Frame_Shift_Ins	INS	ENST00000368090.2	hg19	CCDS1192.1																																																																																				0.594	PIGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060643.2	NM_145167		T	160001303	-	T	160001302	7	5	816	1	0	1	1	0	0	0	0	0	11894	1372	48	0	1047	0	PIGM	1	160001302	Frame_Shift_Ins	INS	-	TCGA-Y8-A894-01A-11D-A35Z-10	7319613	160001302	89249319	9	48938											
RGS4	5999	hgsc.bcm.edu	37	1	163039075	163039075	+	5'UTR	SNP	G	G	C			TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr1:163039075G>C	ENST00000367909.6	+	0	141				RGS4_ENST00000531057.1_5'Flank|RGS4_ENST00000367908.4_5'Flank|RGS4_ENST00000421743.2_Missense_Mutation_p.G31A|RGS4_ENST00000367906.3_5'Flank|RGS4_ENST00000527809.1_5'Flank	NM_001113380.1|NM_005613.5	NP_001106851.1|NP_005604.1	P49798	RGS4_HUMAN	regulator of G-protein signaling 4						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)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						AGAGGAGCTGGTACTGCAGAG	0.517											OREG0013952	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Ovarian(76;1257 1738 3039 6086)											0													13	17	15					1																	163039075		1269	2285	3554	SO:0001623	5_prime_UTR_variant	5999			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.-200G>C	chr1.hg19:g.163039075G>C		1828	A7XA56|A7XA58|A7XA59|A7YVV7|B1APZ3	Missense_Mutation	SNP	ENST00000367909.6	hg19	CCDS1243.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.384567	0.61845	.	.	ENSG00000117152	ENST00000421743	T	0.60548	0.18	4.35	2.27	0.28462	.	.	.	.	.	T	0.15522	0.0374	N	0.08118	0	0.20403	N	0.999902	B	0.22800	0.075	B	0.17433	0.018	T	0.05194	-1.0900	8	0.87932	D	0	.	5.0814	0.14659	0.3474:0.0:0.6526:0.0	.	31	A7XA59	.	A	31	ENSP00000397181:G31A	ENSP00000397181:G31A	G	+	2	0	RGS4	161305699	0.000000	0.05858	0.000000	0.03702	0.655000	0.38815	0.346000	0.19997	0.424000	0.26061	0.563000	0.77884	GGT		0.517	RGS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083197.2	NM_005613		C	163039075	G	C	163039075	1	2	816	0	1	0	0	0	0	0	0	0	13313	1261	44	4		4	RGS4	1	163039075	5'UTR	SNP	G	TCGA-Y8-A894-01A-11D-A35Z-10	3037773	163039075	86211546	10	48939											
GREB1	9687	hgsc.bcm.edu	37	2	11725936	11725936	+	Missense_Mutation	SNP	C	C	T			TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr2:11725936C>T	ENST00000381486.2	+	9	1364	c.1064C>T	c.(1063-1065)gCt>gTt	p.A355V	GREB1_ENST00000381483.2_Missense_Mutation_p.A355V|GREB1_ENST00000234142.5_Missense_Mutation_p.A355V|RN7SL674P_ENST00000463397.2_RNA|GREB1_ENST00000263834.5_Missense_Mutation_p.A355V	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	355						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)		GTGGGACCAGCTTCAGTCACC	0.507																																					Ovarian(39;850 945 2785 23371 33093)											0													95	83	87					2																	11725936		2203	4300	6503	SO:0001583	missense	9687				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.1064C>T	chr2.hg19:g.11725936C>T	ENSP00000370896:p.Ala355Val		A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	hg19	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	C	19.08	3.757093	0.69648	.	.	ENSG00000196208	ENST00000381486;ENST00000263834;ENST00000381483;ENST00000234142	T;T;T;T	0.17528	3.28;2.27;2.28;3.28	4.93	4.93	0.64822	.	0.493025	0.20158	N	0.098007	T	0.18299	0.0439	L	0.50333	1.59	0.33208	D	0.552986	B;B;B	0.28419	0.015;0.006;0.211	B;B;B	0.21360	0.014;0.011;0.034	T	0.11060	-1.0603	10	0.25106	T	0.35	-11.9668	18.3234	0.90246	0.0:1.0:0.0:0.0	.	355;355;355	Q4ZG55-2;Q4ZG55-3;Q4ZG55	.;.;GREB1_HUMAN	V	355	ENSP00000370896:A355V;ENSP00000263834:A355V;ENSP00000370892:A355V;ENSP00000234142:A355V	ENSP00000234142:A355V	A	+	2	0	GREB1	11643387	0.090000	0.21635	0.506000	0.27664	0.870000	0.49936	2.467000	0.45093	2.568000	0.86640	0.650000	0.86243	GCT		0.507	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		T	11725936	C	T	11725936	3	4	816	1	0	0	0	0	1	0	0	0	6762	797	28	2	1094	2	GREB1	2	11725936	Missense_Mutation	SNP	C	TCGA-Y8-A894-01A-11D-A35Z-10		11725936	231473437	11	48940											
RGPD4	285190	hgsc.bcm.edu	37	2	108488143	108488143	+	Missense_Mutation	SNP	C	C	T			TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr2:108488143C>T	ENST00000408999.3	+	20	3760	c.3683C>T	c.(3682-3684)gCg>gTg	p.A1228V	RGPD4_ENST00000354986.4_Missense_Mutation_p.A1228V	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1228					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GGTACAGGTGCGGCCGGTGCC	0.408																																																0													10	8	9					2																	108488143		683	1575	2258	SO:0001583	missense	285190			BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"Tetratricopeptide (TTC) repeat domain containing"	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.3683C>T	chr2.hg19:g.108488143C>T	ENSP00000386810:p.Ala1228Val		B9A029	Missense_Mutation	SNP	ENST00000408999.3	hg19	CCDS46381.1	.	.	.	.	.	.	.	.	.	.	-	5.045	0.194017	0.09599	.	.	ENSG00000196862	ENST00000354986;ENST00000408999	T;T	0.44482	0.92;0.92	2.33	2.33	0.28932	.	.	.	.	.	T	0.22322	0.0538	N	0.17082	0.46	0.09310	N	1	B	0.28512	0.214	B	0.16289	0.015	T	0.11421	-1.0588	9	0.15066	T	0.55	-3.8053	9.6885	0.40114	0.0:1.0:0.0:0.0	.	1228	Q7Z3J3	RGPD4_HUMAN	V	1228	ENSP00000347081:A1228V;ENSP00000386810:A1228V	ENSP00000347081:A1228V	A	+	2	0	RGPD4	107854575	0.105000	0.21958	0.001000	0.08648	0.006000	0.05464	3.069000	0.50026	1.303000	0.44873	0.162000	0.16502	GCG		0.408	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2	XM_496581		T	108488143	C	T	108488143	3	4	816	1	0	0	0	0	1	0	0	0	13294	768	27	1	3761	1	RGPD4	2	108488143	Missense_Mutation	SNP	C	TCGA-Y8-A894-01A-11D-A35Z-10	96762207	108488143	134711230	12	48941											
PSD4	23550	hgsc.bcm.edu	37	2	113956437	113956437	+	Silent	SNP	C	C	A	rs369985754	byFrequency	TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr2:113956437C>A	ENST00000245796.6	+	15	2940	c.2745C>A	c.(2743-2745)ccC>ccA	p.P915P	PSD4_ENST00000441564.3_Silent_p.P886P	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	915					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCATCCTGCCCGTGGGCCCCG	0.721																																																0													8	9	9					2																	113956437		2162	4208	6370	SO:0001819	synonymous_variant	23550			U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"Pleckstrin homology (PH) domain containing"	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.2745C>A	chr2.hg19:g.113956437C>A			A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Silent	SNP	ENST00000245796.6	hg19	CCDS33276.1																																																																																				0.721	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	NM_012455		A	113956437	C	A	113956437	2	1	816	1	0	0	0	0	0	0	0	1	12654	639	23	4		4	PSD4	2	113956437	Silent	SNP	C	TCGA-Y8-A894-01A-11D-A35Z-10	5468294	113956437	129242936	13	48942											
FAM119A	151194	hgsc.bcm.edu	37	2	208486600	208486600	+	Silent	SNP	C	C	T			TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr2:208486600C>T	ENST00000411432.1	-	3	405	c.189G>A	c.(187-189)gaG>gaA	p.E63E	METTL21A_ENST00000432416.1_Silent_p.E63E|METTL21A_ENST00000272839.3_Silent_p.E63E|METTL21A_ENST00000458426.1_Silent_p.E63E|METTL21A_ENST00000448007.2_Silent_p.E63E|METTL21A_ENST00000425132.1_Silent_p.E63E|METTL21A_ENST00000448823.2_Intron|METTL21A_ENST00000442521.1_Silent_p.E63E|METTL21A_ENST00000426075.1_Silent_p.E63E|METTL21A_ENST00000406927.2_Silent_p.E63E	NM_001127395.1	NP_001120867.1	Q8WXB1	MT21A_HUMAN	methyltransferase like 21A	63					peptidyl-lysine methylation (GO:0018022)|protein methylation (GO:0006479)	cytoplasm (GO:0005737)	ATPase binding (GO:0051117)|Hsp70 protein binding (GO:0030544)|protein-lysine N-methyltransferase activity (GO:0016279)			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|stomach(1)	10						GGCCCCTGAGCTCCACAGCTC	0.567																																																0													78	73	75					2																	208486600		2203	4300	6503	SO:0001819	synonymous_variant	151194			AK093812, AF455817	CCDS2376.1	2q33.3	2013-09-30	2011-03-03	2011-03-03	ENSG00000144401	ENSG00000144401			30476	protein-coding gene	gene with protein product	"Hepatocellular carcinoma-associated antigen 557b", "heat shock protein 70kDa lysine (K) methyltransferase"	615257	"family with sequence similarity 119, member A"	FAM119A		23921388	Standard	NM_145280		Approved	LOC151194, HCA557b, HSPA-KMT	uc010fuk.1	Q8WXB1	OTTHUMG00000132934	ENST00000411432.1:c.189G>A	chr2.hg19:g.208486600C>T			Q53RV0|Q8N1Z9|Q96GH6	Silent	SNP	ENST00000411432.1	hg19	CCDS2376.1																																																																																				0.567	METTL21A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337044.1	NM_145280		T	208486600	C	T	208486600	2	4	816	1	0	0	0	0	0	0	0	1	5415	796	28	2		2	FAM119A	2	208486600	Silent	SNP	C	TCGA-Y8-A894-01A-11D-A35Z-10	94530163	208486600	34712773	14	48943											
ESPNL	339768	hgsc.bcm.edu	37	2	239039152	239039153	+	Missense_Mutation	DNP	GG	GG	AT	rs199652360		TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr2:239039152_239039153GG>AT	ENST00000343063.3	+	9	2060_2061	c.1797_1798GG>AT	c.(1795-1800)ctGGta>ctATta	p.V600L	ESPNL_ENST00000409169.1_Missense_Mutation_p.V556L|ESPNL_ENST00000477241.1_3'UTR|ESPNL_ENST00000409506.1_Missense_Mutation_p.V232L	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	600										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)		TCTCCCGCCTGGTACGCAGCCT	0.693																																																0																																										SO:0001583	missense	339768			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	Exception_encountered	chr2.hg19:g.239039152_239039153delinsAT	ENSP00000339115:p.Val600Leu		Q66K27|Q6ZVG1|Q8IVU2	Silent|Missense_Mutation	SNP	ENST00000343063.3	hg19	CCDS2525.1																																																																																				0.693	ESPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257164.2	NM_194312		AT	239039153	GG	AT	239039152	3	1	816	1	0	0	0	0	1	0	0	0	5257	1335	47	2	1831	2	ESPNL	2	239039152	Missense_Mutation	DNP	GG	TCGA-Y8-A894-01A-11D-A35Z-10	30552552	239039152	4160221	15	48944											
MON1A	84315	hgsc.bcm.edu	37	3	49949382	49949382	+	Nonsense_Mutation	SNP	C	C	A			TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr3:49949382C>A	ENST00000417270.1	-	4	907	c.214G>T	c.(214-216)Gag>Tag	p.E72*	MON1A_ENST00000455683.2_Intron|MON1A_ENST00000483022.1_5'UTR|CTD-2330K9.3_ENST00000419183.1_Intron|MON1A_ENST00000296473.3_Nonsense_Mutation_p.E161*			Q86VX9	MON1A_HUMAN	MON1 secretory trafficking family member A	64										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GCCCCATCCTCTGACTCAGTC	0.622																																																0													40	41	41					3																	49949382		2203	4300	6503	SO:0001587	stop_gained	84315			AK074404	CCDS2808.2, CCDS46830.1	3p21.31	2013-08-21	2013-08-21		ENSG00000164077	ENSG00000164077			28207	protein-coding gene	gene with protein product		611464	"MON1 homolog A (yeast)"			12477932	Standard	NM_032355		Approved	MGC13272, SAND1	uc003cxz.3	Q86VX9	OTTHUMG00000156737	ENST00000417270.1:c.214G>T	chr3.hg19:g.49949382C>A	ENSP00000399613:p.Glu72*		B2RDQ1|G5E9N1|Q8NAV7|Q9BRF3	Nonsense_Mutation	SNP	ENST00000417270.1	hg19		.	.	.	.	.	.	.	.	.	.	C	36	5.611852	0.96637	.	.	ENSG00000164077	ENST00000296473;ENST00000417270	.	.	.	5.0	5.0	0.66597	.	0.269864	0.42682	D	0.000679	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-21.7631	18.2971	0.90150	0.0:1.0:0.0:0.0	.	.	.	.	X	161;72	.	.	E	-	1	0	MON1A	49924386	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.799000	0.62517	2.319000	0.78375	0.561000	0.74099	GAG		0.622	MON1A-005	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000345538.2	NM_032355		A	49949382	C	A	49949382	4	1	816	1	0	0	0	0	0	1	0	0	9700	922	32	4	1493	4	MON1A	3	49949382	Nonsense_Mutation	SNP	C	TCGA-Y8-A894-01A-11D-A35Z-10		49949382	148073048	16	48945											
PPM1M	132160	hgsc.bcm.edu	37	3	52282984	52282984	+	Frame_Shift_Del	DEL	G	G	-			TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr3:52282984delG	ENST00000296487.4	+	8	912	c.508delG	c.(508-510)ggafs	p.G170fs	PPM1M_ENST00000323588.4_Frame_Shift_Del_p.G170fs|PPM1M_ENST00000457351.2_Frame_Shift_Del_p.G331fs|PPM1M_ENST00000409502.3_Frame_Shift_Del_p.G119fs			Q96MI6	PPM1M_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1M	170	PP2C-like.				protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|manganese ion binding (GO:0030145)			prostate(1)|urinary_tract(1)	2				BRCA - Breast invasive adenocarcinoma(193;2.4e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)		TCGGTTACTAGGAACACTGGC	0.572																																					NSCLC(151;810 2688 34365 49863)											0													48	46	47					3																	52282984		2203	4299	6502	SO:0001589	frameshift_variant	132160			AK096681	CCDS46840.1	3p21.31	2012-04-17	2010-03-05		ENSG00000164088	ENSG00000164088		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	26506	protein-coding gene	gene with protein product	"protein phosphatase 2C eta"	608979	"protein phosphatase 1M (PP2C domain containing)"			12477932	Standard	NM_001122870		Approved	PP2Ceta, FLJ32332	uc011bed.2	Q96MI6	OTTHUMG00000153046	ENST00000296487.4:c.508delG	chr3.hg19:g.52282984delG	ENSP00000296487:p.Gly170fs		Q8N8J9|Q96DB8	Frame_Shift_Del	DEL	ENST00000296487.4	hg19																																																																																					0.572	PPM1M-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000329230.2	NM_144641		-	52282984	G	-	52282984	7	5	816	1	0	1	0	1	0	0	0	0	12350	1001	35	0	530	0	PPM1M	3	52282984	Frame_Shift_Del	DEL	G	TCGA-Y8-A894-01A-11D-A35Z-10	2333602	52282984	145739446	17	48946											
C3orf38	285237	hgsc.bcm.edu	37	3	88205465	88205465	+	Missense_Mutation	SNP	T	T	A			TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr3:88205465T>A	ENST00000318887.3	+	3	980	c.670T>A	c.(670-672)Tgt>Agt	p.C224S	C3orf38_ENST00000486971.1_3'UTR	NM_173824.3	NP_776185.2	Q5JPI3	CC038_HUMAN	chromosome 3 open reading frame 38	224					apoptotic process (GO:0006915)					breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		TGGACTGAAATGTGCATCTTC	0.438																																																0													134	129	131					3																	88205465		2203	4300	6503	SO:0001583	missense	285237			AL832398	CCDS2921.1, CCDS2921.2	3p11.1	2011-01-25			ENSG00000179021	ENSG00000179021			28384	protein-coding gene	gene with protein product						12477932	Standard	NM_173824		Approved	MGC26717	uc003dqw.3	Q5JPI3	OTTHUMG00000155752	ENST00000318887.3:c.670T>A	chr3.hg19:g.88205465T>A	ENSP00000322469:p.Cys224Ser		B2R8X6|Q8TC85	Missense_Mutation	SNP	ENST00000318887.3	hg19	CCDS2921.2	.	.	.	.	.	.	.	.	.	.	T	14.70	2.614253	0.46631	.	.	ENSG00000179021	ENST00000318887	.	.	.	5.73	5.73	0.89815	.	0.250711	0.49305	D	0.000154	T	0.50429	0.1615	L	0.52759	1.655	0.80722	D	1	P	0.39282	0.666	B	0.35312	0.2	T	0.48906	-0.8993	9	0.24483	T	0.36	-3.1452	15.1867	0.73009	0.0:0.0:0.0:1.0	.	224	Q5JPI3	CC038_HUMAN	S	224	.	ENSP00000322469:C224S	C	+	1	0	C3orf38	88288155	1.000000	0.71417	0.992000	0.48379	0.963000	0.63663	5.952000	0.70282	2.175000	0.68902	0.455000	0.32223	TGT		0.438	C3orf38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341513.1	NM_173824		A	88205465	T	A	88205465	3	1	816	1	0	0	0	0	1	0	0	0	2230	1464	51	5	680	5	C3orf38	3	88205465	Missense_Mutation	SNP	T	TCGA-Y8-A894-01A-11D-A35Z-10	35922481	88205465	109816965	18	48947											
KIAA2018	205717	hgsc.bcm.edu	37	3	113377181	113377181	+	Silent	SNP	T	T	A			TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr3:113377181T>A	ENST00000478658.1	-	5	3365	c.3348A>T	c.(3346-3348)gcA>gcT	p.A1116A	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Silent_p.A1116A			Q68DE3	K2018_HUMAN	KIAA2018	1116						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						TATTAGTTGTTGCATTGCTGG	0.458																																																0													143	134	137					3																	113377181		1982	4170	6152	SO:0001819	synonymous_variant	205717			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.3348A>T	chr3.hg19:g.113377181T>A			Q7Z3L9|Q8IVF3|Q9H8T4	Silent	SNP	ENST00000478658.1	hg19	CCDS43133.1																																																																																				0.458	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		A	113377181	T	A	113377181	2	1	816	1	0	0	0	0	0	0	0	1	8270	1799	63	5		5	KIAA2018	3	113377181	Silent	SNP	T	TCGA-Y8-A894-01A-11D-A35Z-10	25171716	113377181	84645249	19	48948											
LRRC58	116064	hgsc.bcm.edu	37	3	120054774	120054774	+	Frame_Shift_Del	DEL	T	T	-			TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr3:120054774delT	ENST00000295628.3	-	2	622	c.527delA	c.(526-528)aatfs	p.N176fs		NM_001099678.1	NP_001093148.1	Q96CX6	LRC58_HUMAN	leucine rich repeat containing 58	176										large_intestine(2)|lung(5)	7				GBM - Glioblastoma multiforme(114;0.147)		TTTAATGAAATTTCCTCCAAG	0.308																																																0													72	67	68					3																	120054774		1796	4060	5856	SO:0001589	frameshift_variant	116064			BC013757	CCDS46892.1	3q13.33	2006-01-06			ENSG00000163428	ENSG00000163428			26968	protein-coding gene	gene with protein product							Standard	NM_001099678		Approved		uc003edr.2	Q96CX6	OTTHUMG00000159407	ENST00000295628.3:c.527delA	chr3.hg19:g.120054774delT	ENSP00000295628:p.Asn176fs			Frame_Shift_Del	DEL	ENST00000295628.3	hg19	CCDS46892.1																																																																																				0.308	LRRC58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355142.1	XM_057296		-	120054774	T	-	120054774	7	5	816	1	0	1	0	1	0	0	0	0	9016	1493	52	0	600	0	LRRC58	3	120054774	Frame_Shift_Del	DEL	T	TCGA-Y8-A894-01A-11D-A35Z-10	6677593	120054774	77967656	20	48949											
ZNF148	7707	hgsc.bcm.edu	37	3	125032253	125032253	+	Missense_Mutation	SNP	C	C	T			TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr3:125032253C>T	ENST00000360647.4	-	4	717	c.232G>A	c.(232-234)Gat>Aat	p.D78N	ZNF148_ENST00000485866.1_Missense_Mutation_p.D78N|ZNF148_ENST00000492394.1_Missense_Mutation_p.D78N|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000484491.1_Missense_Mutation_p.D78N|ZNF148_ENST00000468369.1_Intron	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	78					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						ATGAGTTCATCATGTGATATC	0.413																																																0													332	271	292					3																	125032253		2203	4300	6503	SO:0001583	missense	7707			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.232G>A	chr3.hg19:g.125032253C>T	ENSP00000353863:p.Asp78Asn		D3DN27|O00389|O43591|Q58EY5|Q6PJ98	Missense_Mutation	SNP	ENST00000360647.4	hg19	CCDS3031.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.030061	0.93575	.	.	ENSG00000163848	ENST00000360647;ENST00000484491;ENST00000492394;ENST00000485866;ENST00000543574;ENST00000465763	T;T;T;T	0.08282	3.11;3.11;3.11;3.11	5.15	5.15	0.70609	.	0.050494	0.85682	D	0.000000	T	0.18383	0.0441	N	0.24115	0.695	0.80722	D	1	D	0.63880	0.993	D	0.72338	0.977	T	0.02560	-1.1141	10	0.49607	T	0.09	-16.8398	18.8154	0.92075	0.0:1.0:0.0:0.0	.	78	Q9UQR1	ZN148_HUMAN	N	78	ENSP00000353863:D78N;ENSP00000420335:D78N;ENSP00000419322:D78N;ENSP00000420448:D78N	ENSP00000353863:D78N	D	-	1	0	ZNF148	126514943	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.845000	0.69437	2.669000	0.90835	0.650000	0.86243	GAT		0.413	ZNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355452.4	NM_021964		T	125032253	C	T	125032253	3	4	816	1	0	0	0	0	1	0	0	0	17739	826	29	2	2176	2	ZNF148	3	125032253	Missense_Mutation	SNP	C	TCGA-Y8-A894-01A-11D-A35Z-10	4977479	125032253	72990177	21	48950											
PSMD2	5708	hgsc.bcm.edu	37	3	184025149	184025149	+	Missense_Mutation	SNP	G	G	C			TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr3:184025149G>C	ENST00000310118.4	+	17	2597	c.2039G>C	c.(2038-2040)aGa>aCa	p.R680T	PSMD2_ENST00000435761.1_Missense_Mutation_p.R521T|EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_Missense_Mutation_p.R550T	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	680					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 protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	CATCAGCTGAGATATGGGGAG	0.463																																					Colon(24;313 636 6917 9932 15554)											0													101	92	95					3																	184025149		2203	4300	6503	SO:0001583	missense	5708			AK095245	CCDS3258.1, CCDS63853.1, CCDS63854.1	3q27.3	2008-05-22			ENSG00000175166	ENSG00000175166		"Proteasome (prosome, macropain) subunits"	9559	protein-coding gene	gene with protein product		606223				8774743	Standard	NM_002808		Approved	S2, P97, TRAP2, MGC14274, Rpn1	uc003fnn.1	Q13200	OTTHUMG00000156796	ENST00000310118.4:c.2039G>C	chr3.hg19:g.184025149G>C	ENSP00000310129:p.Arg680Thr		B4DX07|B4DXY1|E7EW34|E9PCS3|Q12932|Q15321|Q53XQ4|Q96I12	Missense_Mutation	SNP	ENST00000310118.4	hg19	CCDS3258.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.0|23.0	4.362690|4.362690	0.82353|0.82353	.|.	.|.	ENSG00000175166|ENSG00000175166	ENST00000432855|ENST00000310118;ENST00000358216;ENST00000538096;ENST00000435761;ENST00000439383	.|T;T;T	.|0.40476	.|1.03;1.03;1.03	5.66|5.66	5.66|5.66	0.87406|0.87406	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.66509|0.66509	0.2796|0.2796	M|M	0.79123|0.79123	2.44|2.44	0.80722|0.80722	D|D	1|1	.|P;D	.|0.54601	.|0.668;0.967	.|B;D	.|0.63597	.|0.441;0.916	T|T	0.68577|0.68577	-0.5372|-0.5372	5|10	.|0.66056	.|D	.|0.02	-12.9315|-12.9315	19.7566|19.7566	0.96296|0.96296	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|521;680	.|E9PCS3;Q13200	.|.;PSMD2_HUMAN	H|T	113|680;352;672;521;550	.|ENSP00000310129:R680T;ENSP00000402618:R521T;ENSP00000416028:R550T	.|ENSP00000310129:R680T	D|R	+|+	1|2	0|0	PSMD2|PSMD2	185507843|185507843	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.940000|0.940000	0.58332|0.58332	9.321000|9.321000	0.96353|0.96353	2.671000|2.671000	0.90904|0.90904	0.563000|0.563000	0.77884|0.77884	GAT|AGA		0.463	PSMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345843.1	NM_002808		C	184025149	G	C	184025149	3	2	816	1	0	0	0	0	1	0	0	0	12703	942	33	4	2105	4	PSMD2	3	184025149	Missense_Mutation	SNP	G	TCGA-Y8-A894-01A-11D-A35Z-10	58992896	184025149	13997281	22	48951											
GALNTL6	442117	hgsc.bcm.edu	37	4	173961238	173961238	+	Missense_Mutation	SNP	A	A	G			TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr4:173961238A>G	ENST00000506823.1	+	13	2450	c.1793A>G	c.(1792-1794)cAt>cGt	p.H598R	GALNTL6_ENST00000508122.1_Missense_Mutation_p.H581R	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	598					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						TTTAACCACCATGCCAACTCC	0.378																																																0													57	57	57					4																	173961238		2203	4300	6503	SO:0001583	missense	442117				CCDS34104.1	4q34.1	2014-03-13	2014-03-13		ENSG00000174473	ENSG00000174473		"Glycosyltransferase family 2 domain containing"	33844	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase-like 6"	615138	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6"				Standard	NM_001034845		Approved	GALNT17, GalNAc-T6L	uc003isv.3	Q49A17	OTTHUMG00000160807	ENST00000506823.1:c.1793A>G	chr4.hg19:g.173961238A>G	ENSP00000423313:p.His598Arg		Q2L4S6	Missense_Mutation	SNP	ENST00000506823.1	hg19	CCDS34104.1	.	.	.	.	.	.	.	.	.	.	A	2.776	-0.254643	0.05829	.	.	ENSG00000174473	ENST00000506823;ENST00000508122	T;T	0.54675	0.57;0.56	5.7	5.7	0.88788	.	0.322502	0.26407	N	0.024559	T	0.32852	0.0843	N	0.08118	0	0.24470	N	0.994397	B	0.09022	0.002	B	0.08055	0.003	T	0.08513	-1.0718	10	0.15066	T	0.55	.	15.9765	0.80071	1.0:0.0:0.0:0.0	.	598	Q49A17	GLTL6_HUMAN	R	598;581	ENSP00000423313:H598R;ENSP00000423827:H581R	ENSP00000423313:H598R	H	+	2	0	GALNTL6	174197813	0.981000	0.34729	1.000000	0.80357	0.385000	0.30292	2.146000	0.42216	2.172000	0.68678	0.533000	0.62120	CAT		0.378	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362395.1	NM_001034845		G	173961238	A	G	173961238	3	3	816	1	0	0	0	0	1	0	0	0	6227	217	8	3	1839	3	GALNTL6	4	173961238	Missense_Mutation	SNP	A	TCGA-Y8-A894-01A-11D-A35Z-10		173961238	17193038	23	48952											
GALNT7	51809	hgsc.bcm.edu	37	4	174239640	174239640	+	Missense_Mutation	SNP	G	G	C			TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr4:174239640G>C	ENST00000265000.4	+	11	1849	c.1766G>C	c.(1765-1767)gGa>gCa	p.G589A		NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	polypeptide N-acetylgalactosaminyltransferase 7	589	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)|protein O-linked glycosylation (GO:0006493)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		TTGACAAAGGGAGCTGATGGA	0.343																																																0													115	118	117					4																	174239640		2203	4300	6503	SO:0001583	missense	51809			AJ002744	CCDS3815.1	4q31.1	2014-03-13	2014-03-13		ENSG00000109586	ENSG00000109586		"Glycosyltransferase family 2 domain containing"	4129	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 7"	605005	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)"			10544240	Standard	NM_017423		Approved	GALNAC-T7	uc003isz.4	Q86SF2	OTTHUMG00000160817	ENST00000265000.4:c.1766G>C	chr4.hg19:g.174239640G>C	ENSP00000265000:p.Gly589Ala		B3KQU3|Q7Z5W7|Q9UJ28	Missense_Mutation	SNP	ENST00000265000.4	hg19	CCDS3815.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.595|9.595	1.127164|1.127164	0.20959|0.20959	.|.	.|.	ENSG00000109586|ENSG00000109586	ENST00000505308|ENST00000265000	.|T	.|0.77229	.|-1.08	4.92|4.92	4.92|4.92	0.64577|0.64577	.|Ricin B-related lectin (1);Ricin B lectin (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.63462|0.63462	0.2513|0.2513	N|N	0.16266|0.16266	0.395|0.395	0.80722|0.80722	D|D	1|1	.|B	.|0.22983	.|0.078	.|B	.|0.18871	.|0.023	T|T	0.59616|0.59616	-0.7421|-0.7421	5|10	.|0.10111	.|T	.|0.7	.|.	18.9993|18.9993	0.92826|0.92826	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|589	.|Q86SF2	.|GALT7_HUMAN	Q|A	386|589	.|ENSP00000265000:G589A	.|ENSP00000265000:G589A	E|G	+|+	1|2	0|0	GALNT7|GALNT7	174476215|174476215	1.000000|1.000000	0.71417|0.71417	0.957000|0.957000	0.39632|0.39632	0.831000|0.831000	0.47069|0.47069	5.713000|5.713000	0.68415|0.68415	2.645000|2.645000	0.89757|0.89757	0.555000|0.555000	0.69702|0.69702	GAG|GGA		0.343	GALNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362456.2	NM_017423		C	174239640	G	C	174239640	3	2	816	1	0	0	0	0	1	0	0	0	6220	1174	41	4	1808	4	GALNT7	4	174239640	Missense_Mutation	SNP	G	TCGA-Y8-A894-01A-11D-A35Z-10	278402	174239640	16914636	24	48953											
ODZ3	55714	hgsc.bcm.edu	37	4	183245238	183245238	+	Missense_Mutation	SNP	G	G	A			TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr4:183245238G>A	ENST00000511685.1	+	2	188	c.65G>A	c.(64-66)cGc>cAc	p.R22H	TENM3_ENST00000406950.2_Missense_Mutation_p.R22H			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	22	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)										AAGGAACGGCGCTACACAAAT	0.512																																																0													101	103	102					4																	183245238		1988	4168	6156	SO:0001583	missense	55714			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.65G>A	chr4.hg19:g.183245238G>A	ENSP00000424226:p.Arg22His		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	hg19	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.691681	0.68271	.	.	ENSG00000218336	ENST00000512480;ENST00000511685;ENST00000406950	T;T;T	0.45668	0.89;0.89;0.89	5.65	5.65	0.86999	Teneurin intracellular, N-terminal (2);	.	.	.	.	T	0.55065	0.1897	L	0.27053	0.805	0.51482	D	0.999923	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.991	T	0.55560	-0.8122	9	0.62326	D	0.03	.	19.9142	0.97043	0.0:0.0:1.0:0.0	.	22;22	D6RGC5;Q9P273	.;TEN3_HUMAN	H	22	ENSP00000421320:R22H;ENSP00000424226:R22H;ENSP00000385276:R22H	ENSP00000385276:R22H	R	+	2	0	ODZ3	183482232	1.000000	0.71417	0.974000	0.42286	0.613000	0.37349	7.379000	0.79691	2.941000	0.99782	0.655000	0.94253	CGC		0.512	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			A	183245238	G	A	183245238	3	1	816	1	0	0	0	0	1	0	0	0	10838	1087	38	1	67	1	ODZ3	4	183245238	Missense_Mutation	SNP	G	TCGA-Y8-A894-01A-11D-A35Z-10	9005598	183245238	7909038	25	48954											
TLR3	7098	hgsc.bcm.edu	37	4	187004353	187004353	+	Missense_Mutation	SNP	C	C	A			TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr4:187004353C>A	ENST00000296795.3	+	4	1617	c.1513C>A	c.(1513-1515)Ctt>Att	p.L505I	TLR3_ENST00000504367.1_Missense_Mutation_p.L228I	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	505					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)		ATTCCAGCCTCTTCGTAACTT	0.453																																																0													100	104	103					4																	187004353		2203	4300	6503	SO:0001583	missense	7098			U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"CD molecules"	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.1513C>A	chr4.hg19:g.187004353C>A	ENSP00000296795:p.Leu505Ile		B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Missense_Mutation	SNP	ENST00000296795.3	hg19	CCDS3846.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.244447	0.39697	.	.	ENSG00000164342	ENST00000296795;ENST00000542020;ENST00000504367	T;T	0.70749	-0.51;-0.51	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.85809	0.5783	M	0.89904	3.07	0.58432	D	0.999996	D	0.56035	0.974	D	0.66602	0.945	D	0.88167	0.2861	10	0.87932	D	0	.	13.9953	0.64392	0.0:0.9278:0.0:0.0722	.	505	O15455	TLR3_HUMAN	I	505;505;228	ENSP00000296795:L505I;ENSP00000423684:L228I	ENSP00000296795:L505I	L	+	1	0	TLR3	187241347	0.985000	0.35326	0.813000	0.32504	0.060000	0.15804	2.694000	0.47035	2.683000	0.91414	0.557000	0.71058	CTT		0.453	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360313.4			A	187004353	C	A	187004353	3	1	816	1	0	0	0	0	1	0	0	0	15957	913	32	4	1523	4	TLR3	4	187004353	Missense_Mutation	SNP	C	TCGA-Y8-A894-01A-11D-A35Z-10	3759115	187004353	4149923	26	48955											
PCDHB2	56133	hgsc.bcm.edu	37	5	140476411	140476411	+	Silent	SNP	A	A	C			TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr5:140476411A>C	ENST00000194155.4	+	1	2185	c.2037A>C	c.(2035-2037)gcA>gcC	p.A679A		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	679					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.A679A(1)		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)			CGGAGGCGGCACCGGCCCAGG	0.687																																																1	Substitution - coding silent(1)	lung(1)											65	67	66					5																	140476411		2178	4247	6425	SO:0001819	synonymous_variant	56133			AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"Cadherins / Protocadherins : Clustered"	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.2037A>C	chr5.hg19:g.140476411A>C			Q4KMU1	Silent	SNP	ENST00000194155.4	hg19	CCDS4244.1																																																																																				0.687	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		C	140476411	A	C	140476411	2	2	816	1	0	0	0	0	0	0	0	1	11544	146	6	5		5	PCDHB2	5	140476411	Silent	SNP	A	TCGA-Y8-A894-01A-11D-A35Z-10		140476411	40438849	27	48956											
DCTN4	51164	hgsc.bcm.edu	37	5	150133041	150133041	+	Splice_Site	SNP	C	C	A			TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr5:150133041C>A	ENST00000447998.2	-	3	500	c.385G>T	c.(385-387)Gct>Tct	p.A129S	DCTN4_ENST00000446090.2_Splice_Site_p.A129S|DCTN4_ENST00000424236.1_Splice_Site_p.A72S|DCTN4_ENST00000521093.1_5'UTR	NM_016221.3	NP_057305.1	Q9UJW0	DCTN4_HUMAN	dynactin 4 (p62)	129					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	10		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCTCACTCACCTACAGATTTG	0.438																																																0													95	83	87					5																	150133041		2203	4300	6503	SO:0001630	splice_region_variant	51164			AF195120	CCDS4310.1, CCDS47310.1, CCDS47311.1	5q31-q32	2008-05-23			ENSG00000132912	ENSG00000132912			15518	protein-coding gene	gene with protein product		614758				10843801, 16554302	Standard	NM_016221		Approved		uc010jhi.3	Q9UJW0	OTTHUMG00000130079	ENST00000447998.2:c.385+1G>T	chr5.hg19:g.150133041C>A			B3KWW0|D3DQH0|E5RGT5|Q8TAN8	Missense_Mutation	SNP	ENST00000447998.2	hg19	CCDS4310.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.383083	0.82792	.	.	ENSG00000132912	ENST00000447998;ENST00000424236;ENST00000446090;ENST00000518015;ENST00000521533	T;T;T;T;T	0.48201	2.08;2.09;2.11;0.82;0.86	5.99	5.99	0.97316	.	0.050995	0.85682	D	0.000000	T	0.69278	0.3093	M	0.70275	2.135	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.996;0.998	T	0.66416	-0.5929	9	.	.	.	-21.9701	18.6582	0.91462	0.0:1.0:0.0:0.0	.	129;129	Q9UJW0-3;Q9UJW0	.;DCTN4_HUMAN	S	129;72;129;72;72	ENSP00000416968:A129S;ENSP00000411251:A72S;ENSP00000414906:A129S;ENSP00000430993:A72S;ENSP00000430183:A72S	.	A	-	1	0	DCTN4	150113234	1.000000	0.71417	1.000000	0.80357	0.356000	0.29392	7.734000	0.84928	2.840000	0.97914	0.655000	0.94253	GCT		0.438	DCTN4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252372.1		Missense_Mutation	A	150133041	C	A	150133041	5	1	816	1	0	0	0	0	0	0	1	0	4311	695	24	4	1066	4	DCTN4	5	150133041	Splice_Site	SNP	C	TCGA-Y8-A894-01A-11D-A35Z-10	9656630	150133041	30782219	28	48957											
ITK	3702	hgsc.bcm.edu	37	5	156671455	156671455	+	Nonsense_Mutation	SNP	C	C	A			TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr5:156671455C>A	ENST00000422843.3	+	13	1568	c.1416C>A	c.(1414-1416)taC>taA	p.Y472*	ITK_ENST00000519749.1_3'UTR	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	472	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cellular defense response (GO:0006968)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|intracellular signal transduction (GO:0035556)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Pazopanib(DB06589)	GCATGGCCTACCTGGAAGAGG	0.552			T	SYK	peripheral T-cell lymphoma																																Esophageal Squamous(70;1378 1469 8785 19883)		Dom	yes		5	5q31-q32	3702	IL2-inducible T-cell kinase		L	0													87	83	84					5																	156671455		2203	4300	6503	SO:0001587	stop_gained	3702			D13720	CCDS4336.1	5q31-q32	2014-09-17			ENSG00000113263	ENSG00000113263		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	6171	protein-coding gene	gene with protein product		186973				8364206	Standard	NM_005546		Approved	EMT, PSCTK2, LYK	uc003lwo.1	Q08881	OTTHUMG00000130245	ENST00000422843.3:c.1416C>A	chr5.hg19:g.156671455C>A	ENSP00000398655:p.Tyr472*		B2R752|Q32ML7	Nonsense_Mutation	SNP	ENST00000422843.3	hg19	CCDS4336.1	.	.	.	.	.	.	.	.	.	.	C	39	7.388191	0.98252	.	.	ENSG00000113263	ENST00000422843	.	.	.	6.08	4.31	0.51392	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.2076	0.31465	0.0:0.7457:0.0:0.2543	.	.	.	.	X	472	.	ENSP00000398655:Y472X	Y	+	3	2	ITK	156604033	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.970000	0.40520	1.590000	0.49995	0.591000	0.81541	TAC		0.552	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252569.2			A	156671455	C	A	156671455	4	1	816	1	0	0	0	0	0	1	0	0	7911	518	18	4	1466	4	ITK	5	156671455	Nonsense_Mutation	SNP	C	TCGA-Y8-A894-01A-11D-A35Z-10	6538414	156671455	24243805	29	48958											
FLT4	2324	hgsc.bcm.edu	37	5	180045796	180045796	+	Missense_Mutation	SNP	G	G	A			TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr5:180045796G>A	ENST00000261937.6	-	21	3053	c.2975C>T	c.(2974-2976)gCg>gTg	p.A992V	FLT4_ENST00000393347.3_Missense_Mutation_p.A992V|FLT4_ENST00000502649.1_Missense_Mutation_p.A992V|FLT4_ENST00000424276.2_5'Flank	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	992	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)	AGCCCGCCTCGCTCCGCCCTC	0.672																																					Colon(97;1075 1466 27033 27547 35871)											0													17	23	21					5																	180045796		2181	4288	6469	SO:0001583	missense	2324			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.2975C>T	chr5.hg19:g.180045796G>A	ENSP00000261937:p.Ala992Val		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	hg19	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	G	0.021	-1.422924	0.01126	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000512795	T;T;T;T	0.79940	-1.08;-1.08;-1.08;-1.32	4.91	3.13	0.36017	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.63271	0.2497	N	0.12746	0.255	0.09310	N	1	B;B	0.16396	0.001;0.017	B;B	0.19148	0.005;0.024	T	0.49072	-0.8977	9	0.24483	T	0.36	.	8.8003	0.34905	0.1751:0.0:0.8249:0.0	.	992;992	E9PD35;P35916	.;VGFR3_HUMAN	V	992;992;992;30	ENSP00000261937:A992V;ENSP00000377016:A992V;ENSP00000426057:A992V;ENSP00000421535:A30V	ENSP00000261937:A992V	A	-	2	0	FLT4	179978402	0.019000	0.18553	0.011000	0.14972	0.002000	0.02628	1.930000	0.40124	0.605000	0.29947	0.542000	0.68232	GCG		0.672	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			A	180045796	G	A	180045796	3	1	816	1	0	0	0	0	1	0	0	0	5946	1087	38	1	1164	1	FLT4	5	180045796	Missense_Mutation	SNP	G	TCGA-Y8-A894-01A-11D-A35Z-10	23374341	180045796	869464	30	48959											
TJAP1	93643	hgsc.bcm.edu	37	6	43466745	43466745	+	Silent	SNP	T	T	C			TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr6:43466745T>C	ENST00000372445.5	+	4	382	c.6T>C	c.(4-6)acT>acC	p.T2T	TJAP1_ENST00000259751.1_Silent_p.T2T|TJAP1_ENST00000372452.1_Silent_p.T2T|TJAP1_ENST00000372449.1_Silent_p.T2T|TJAP1_ENST00000438588.2_Silent_p.T2T|TJAP1_ENST00000372444.2_Silent_p.T2T|TJAP1_ENST00000483640.1_3'UTR|TJAP1_ENST00000436109.2_Silent_p.T2T	NM_001146016.1	NP_001139488.1	Q5JTD0	TJAP1_HUMAN	tight junction associated protein 1 (peripheral)	2					Golgi organization (GO:0007030)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)|trans-Golgi network (GO:0005802)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CCAGAATGACTAGTGCCGCCC	0.567																																																0													72	60	64					6																	43466745		2203	4300	6503	SO:0001819	synonymous_variant	93643			AK024269	CCDS4898.1, CCDS55004.1	6p21.1	2008-02-05	2005-07-05	2005-07-05	ENSG00000137221	ENSG00000137221			17949	protein-coding gene	gene with protein product		612658	"tight junction protein 4 (peripheral)"	TJP4		11602598	Standard	NM_001146016		Approved	PILT	uc011dvh.1	Q5JTD0	OTTHUMG00000014736	ENST00000372445.5:c.6T>C	chr6.hg19:g.43466745T>C			Q05BH9|Q5JTD1|Q5JWW1|Q68DB2|Q6P2P3|Q9H7V7	Silent	SNP	ENST00000372445.5	hg19	CCDS55004.1																																																																																				0.567	TJAP1-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040629.1	NM_080604		C	43466745	T	C	43466745	2	2	816	1	0	0	0	0	0	0	0	1	15933	1509	53	3		3	TJAP1	6	43466745	Silent	SNP	T	TCGA-Y8-A894-01A-11D-A35Z-10		43466745	127648322	31	48960											
STX11	8676	hgsc.bcm.edu	37	6	144508308	144508308	+	Nonsense_Mutation	SNP	G	G	T			TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr6:144508308G>T	ENST00000367568.4	+	2	727	c.544G>T	c.(544-546)Gag>Tag	p.E182*		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	182					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)		GGACATGTTCGAGCAGGGTAA	0.627									Familial Hemophagocytic Lymphohistiocytosis																																							0													51	57	55					6																	144508308		2203	4300	6503	SO:0001587	stop_gained	8676	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	AF044309	CCDS5205.1	6q24.1	2014-09-17			ENSG00000135604	ENSG00000135604			11429	protein-coding gene	gene with protein product		605014				9553086	Standard	NM_003764		Approved		uc003qks.4	O75558	OTTHUMG00000015739	ENST00000367568.4:c.544G>T	chr6.hg19:g.144508308G>T	ENSP00000356540:p.Glu182*		E1P598|O75378|O95148|Q5TCL6	Nonsense_Mutation	SNP	ENST00000367568.4	hg19	CCDS5205.1	.	.	.	.	.	.	.	.	.	.	G	37	6.277586	0.97435	.	.	ENSG00000135604	ENST00000367568	.	.	.	5.45	4.56	0.56223	.	0.050373	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-31.1219	15.5981	0.76602	0.0:0.1384:0.8616:0.0	.	.	.	.	X	182	.	ENSP00000356540:E182X	E	+	1	0	STX11	144550001	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.844000	0.86867	1.246000	0.43901	0.655000	0.94253	GAG		0.627	STX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042544.1			T	144508308	G	T	144508308	4	4	816	1	0	0	0	0	0	1	0	0	15342	1059	37	4	546	4	STX11	6	144508308	Nonsense_Mutation	SNP	G	TCGA-Y8-A894-01A-11D-A35Z-10	101041563	144508308	26606759	32	48961											
PLEKHG1	57480	hgsc.bcm.edu	37	6	151054930	151054930	+	Missense_Mutation	SNP	G	G	A			TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr6:151054930G>A	ENST00000358517.2	+	2	324	c.113G>A	c.(112-114)aGc>aAc	p.S38N	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.S38N			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	38							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)		GTTTCAAATAGCCACATGGGC	0.547																																																0													77	78	78					6																	151054930		2203	4300	6503	SO:0001583	missense	57480			AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.113G>A	chr6.hg19:g.151054930G>A	ENSP00000351318:p.Ser38Asn		Q5T1F2	Missense_Mutation	SNP	ENST00000358517.2	hg19	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.604559	0.87157	.	.	ENSG00000120278	ENST00000367328;ENST00000367326;ENST00000535018;ENST00000358517	T;T	0.62639	0.01;0.01	5.81	5.81	0.92471	.	0.125351	0.64402	D	0.000001	T	0.63546	0.2520	M	0.63428	1.95	0.34174	D	0.670101	D;D	0.53619	0.961;0.961	P;P	0.49637	0.617;0.617	T	0.68685	-0.5343	10	0.62326	D	0.03	.	20.0762	0.97745	0.0:0.0:1.0:0.0	.	38;38	Q5JYA6;Q9ULL1	.;PKHG1_HUMAN	N	38	ENSP00000356297:S38N;ENSP00000351318:S38N	ENSP00000351318:S38N	S	+	2	0	PLEKHG1	151096623	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	5.440000	0.66563	2.756000	0.94617	0.655000	0.94253	AGC		0.547	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			A	151054930	G	A	151054930	3	1	816	1	0	0	0	0	1	0	0	0	12070	971	34	2	115	2	PLEKHG1	6	151054930	Missense_Mutation	SNP	G	TCGA-Y8-A894-01A-11D-A35Z-10	6546622	151054930	20060137	33	48962											
RSPH3	83861	hgsc.bcm.edu	37	6	159420999	159420999	+	Missense_Mutation	SNP	T	T	C			TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr6:159420999T>C	ENST00000252655.1	-	1	199	c.10A>G	c.(10-12)Aag>Gag	p.K4E	RSPH3_ENST00000367069.2_5'UTR|RP1-111C20.4_ENST00000606470.1_RNA|RSPH3_ENST00000297262.3_Missense_Mutation_p.K4E|RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA|RSPH3_ENST00000449822.1_5'Flank	NM_031924.4	NP_114130.3	Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog (Chlamydomonas)	4										endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		TTGGCTGGCTTGACCGTCATC	0.667																																																0													15	14	14					6																	159420999		2149	4219	6368	SO:0001583	missense	83861			AF353618	CCDS5260.1	6q25.3	2014-05-16	2008-07-04	2007-06-26	ENSG00000130363	ENSG00000130363			21054	protein-coding gene	gene with protein product		615876	"radial spokehead-like 2"	RSHL2		12477932	Standard	NM_031924		Approved	dJ111C20.1, RSP3	uc003qrx.3	Q86UC2	OTTHUMG00000015924	ENST00000252655.1:c.10A>G	chr6.hg19:g.159420999T>C	ENSP00000252655:p.Lys4Glu		Q96LQ5|Q96LX2|Q9BX75	Missense_Mutation	SNP	ENST00000252655.1	hg19	CCDS5260.1	.	.	.	.	.	.	.	.	.	.	T	11.10	1.538607	0.27475	.	.	ENSG00000130363	ENST00000252655;ENST00000297262	T;T	0.17370	2.42;2.28	1.12	-0.411	0.12370	.	8.538430	0.00166	U	0.000002	T	0.02727	0.0082	N	0.24115	0.695	0.09310	N	1	B;B	0.27625	0.183;0.115	B;B	0.17722	0.019;0.009	T	0.31194	-0.9952	10	0.23891	T	0.37	.	2.954	0.05870	0.4349:0.0:0.0:0.5651	.	4;4	Q86UC2-2;Q86UC2	.;RSPH3_HUMAN	E	4	ENSP00000252655:K4E;ENSP00000297262:K4E	ENSP00000252655:K4E	K	-	1	0	RSPH3	159340987	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-1.681000	0.01937	-0.117000	0.11872	0.379000	0.24179	AAG		0.667	RSPH3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_031924		C	159420999	T	C	159420999	3	2	816	1	0	0	0	0	1	0	0	0	13711	1821	63	3	1704	3	RSPH3	6	159420999	Missense_Mutation	SNP	T	TCGA-Y8-A894-01A-11D-A35Z-10	8366069	159420999	11694068	34	48963											
CAMK2B	816	hgsc.bcm.edu	37	7	44268995	44268995	+	Missense_Mutation	SNP	G	G	T			TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr7:44268995G>T	ENST00000395749.2	-	18	1407	c.1331C>A	c.(1330-1332)cCa>cAa	p.P444Q	CAMK2B_ENST00000489429.1_5'UTR|CAMK2B_ENST00000457475.1_Intron|CAMK2B_ENST00000358707.3_Intron|CAMK2B_ENST00000502837.2_Intron|CAMK2B_ENST00000440254.2_Intron|CAMK2B_ENST00000346990.4_Intron|CAMK2B_ENST00000350811.3_Intron|CAMK2B_ENST00000353625.4_Intron|CAMK2B_ENST00000347193.4_Intron|CAMK2B_ENST00000258682.6_Intron|CAMK2B_ENST00000395747.2_Intron	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	444					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						ACATGGGGCTGGCAGGGGGCT	0.687																																																0													5	5	5					7																	44268995		1932	3820	5752	SO:0001583	missense	816			U50358	CCDS5483.1, CCDS5484.1, CCDS5485.1, CCDS5486.1, CCDS5487.1, CCDS5488.1, CCDS5489.1, CCDS43573.1	7p14.3-p14.1	2008-10-30	2008-10-30		ENSG00000058404	ENSG00000058404			1461	protein-coding gene	gene with protein product	"CaM-kinase II beta chain", "calcium/calmodulin-dependent protein kinase type II beta chain", "CaM kinase II beta subunit", "proline rich calmodulin-dependent protein kinase"	607707	"calcium/calmodulin-dependent protein kinase (CaM kinase) II beta"	CAMKB			Standard	NM_172079		Approved	CAM2, CAMK2	uc003tkq.2	Q13554	OTTHUMG00000023491	ENST00000395749.2:c.1331C>A	chr7.hg19:g.44268995G>T	ENSP00000379098:p.Pro444Gln		A4D2K0|A4D2K1|A4D2K2|A4D2K3|A4D2K4|A4D2K5|A4D2K6|O95437|O95438|O95599|Q9UGH7|Q9UGH8|Q9UGH9|Q9UNX0|Q9UNX7|Q9UP00|Q9Y5N4|Q9Y6F4	Missense_Mutation	SNP	ENST00000395749.2	hg19	CCDS5483.1	.	.	.	.	.	.	.	.	.	.	g	11.40	1.628866	0.28978	.	.	ENSG00000058404	ENST00000395749	T	0.66995	-0.24	3.66	-0.42	0.12336	Protein kinase-like domain (1);	.	.	.	.	T	0.46639	0.1403	L	0.38175	1.15	0.24473	N	0.994385	B	0.34015	0.435	B	0.29524	0.103	T	0.27365	-1.0076	9	0.12430	T	0.62	.	6.8313	0.23911	0.4498:0.0:0.5502:0.0	.	444	Q13554	KCC2B_HUMAN	Q	444	ENSP00000379098:P444Q	ENSP00000379098:P444Q	P	-	2	0	CAMK2B	44235520	0.000000	0.05858	0.458000	0.27068	0.879000	0.50718	0.020000	0.13466	-0.092000	0.12417	0.558000	0.71614	CCA		0.687	CAMK2B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251138.2	NM_172084		T	44268995	G	T	44268995	3	4	816	1	0	0	0	0	1	0	0	0	2602	1348	47	4	693	4	CAMK2B	7	44268995	Missense_Mutation	SNP	G	TCGA-Y8-A894-01A-11D-A35Z-10		44268995	114869668	35	48964											
STEAP4	79689	hgsc.bcm.edu	37	7	87912402	87912402	+	Missense_Mutation	SNP	G	G	T			TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr7:87912402G>T	ENST00000380079.4	-	3	639	c.538C>A	c.(538-540)Caa>Aaa	p.Q180K	AC003991.3_ENST00000595121.1_RNA|STEAP4_ENST00000301959.5_Intron|AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000600908.1_RNA|STEAP4_ENST00000414498.1_Missense_Mutation_p.Q180K|AC003991.3_ENST00000434733.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	180					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)					AGTGATCCTTGATCCATTGGA	0.418																																																0													82	77	79					7																	87912402		1901	4131	6032	SO:0001583	missense	79689			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.538C>A	chr7.hg19:g.87912402G>T	ENSP00000369419:p.Gln180Lys		Q658Q9|Q687X4|Q8WWB0|Q9H5R1	Missense_Mutation	SNP	ENST00000380079.4	hg19	CCDS43611.1	.	.	.	.	.	.	.	.	.	.	G	0.091	-1.167648	0.01660	.	.	ENSG00000127954	ENST00000380079;ENST00000414498	T;T	0.16597	2.33;2.33	5.98	3.12	0.35913	NAD(P)-binding domain (1);	0.395807	0.33691	N	0.004657	T	0.10078	0.0247	N	0.16862	0.45	0.29002	N	0.887404	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.19095	-1.0316	10	0.27785	T	0.31	-1.2064	10.4832	0.44706	0.0633:0.0:0.358:0.5787	.	180;180	C9JS50;Q687X5	.;STEA4_HUMAN	K	180	ENSP00000369419:Q180K;ENSP00000394399:Q180K	ENSP00000369419:Q180K	Q	-	1	0	STEAP4	87750338	1.000000	0.71417	0.998000	0.56505	0.557000	0.35523	1.336000	0.33850	0.375000	0.24679	0.591000	0.81541	CAA		0.418	STEAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332712.4	NM_024636		T	87912402	G	T	87912402	3	4	816	1	0	0	0	0	1	0	0	0	15285	1299	45	4	853	4	STEAP4	7	87912402	Missense_Mutation	SNP	G	TCGA-Y8-A894-01A-11D-A35Z-10	43643407	87912402	71226261	36	48965											
LAMB1	3912	hgsc.bcm.edu	37	7	107577548	107577548	+	Silent	SNP	T	T	A			TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr7:107577548T>A	ENST00000222399.6	-	26	4166	c.3936A>T	c.(3934-3936)tcA>tcT	p.S1312S	LAMB1_ENST00000474380.1_5'UTR|LAMB1_ENST00000393561.1_Silent_p.S1336S	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	1312	Domain II.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|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-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						CCCGAATATCTGAGTTTTTGA	0.383																																																0													163	143	150					7																	107577548		2203	4300	6503	SO:0001819	synonymous_variant	3912			M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"Laminins"	6486	protein-coding gene	gene with protein product		150240	"cutis laxa with marfanoid phenotype"	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.3936A>T	chr7.hg19:g.107577548T>A			Q14D91	Silent	SNP	ENST00000222399.6	hg19	CCDS5750.1																																																																																				0.383	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		A	107577548	T	A	107577548	2	1	816	1	0	0	0	0	0	0	0	1	8612	1567	55	5		5	LAMB1	7	107577548	Silent	SNP	T	TCGA-Y8-A894-01A-11D-A35Z-10	19665146	107577548	51561115	37	48966											
ZNF395	55893	hgsc.bcm.edu	37	8	28209284	28209284	+	Missense_Mutation	SNP	A	A	C			TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr8:28209284A>C	ENST00000344423.5	-	7	1092	c.961T>G	c.(961-963)Ttc>Gtc	p.F321V	ZNF395_ENST00000523095.1_Missense_Mutation_p.F321V|ZNF395_ENST00000523202.1_Missense_Mutation_p.F321V	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	321					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)			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		GTGTAGTAGAAATCCTCCTCC	0.617																																																0													102	108	106					8																	28209284		2203	4300	6503	SO:0001583	missense	55893			AB044750	CCDS6067.1	8p21	2008-05-02			ENSG00000186918	ENSG00000186918		"Zinc fingers, C2H2-type"	18737	protein-coding gene	gene with protein product		609494				14625278	Standard	NM_018660		Approved	PRF-1, HDBP2, PBF, DKFZp434K1210	uc003xgr.3	Q9H8N7	OTTHUMG00000102137	ENST00000344423.5:c.961T>G	chr8.hg19:g.28209284A>C	ENSP00000340494:p.Phe321Val		B3KUY7|D3DST4|Q6F6H2|Q9BY72|Q9NPB2|Q9NS57|Q9NS58|Q9NS59	Missense_Mutation	SNP	ENST00000344423.5	hg19	CCDS6067.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.695035	0.88830	.	.	ENSG00000186918	ENST00000344423;ENST00000523202;ENST00000523095	T;T;T	0.60040	0.22;0.22;0.22	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.76622	0.4013	M	0.83384	2.64	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.80560	-0.1328	10	0.87932	D	0	-20.2258	12.6693	0.56858	1.0:0.0:0.0:0.0	.	321	Q9H8N7	ZN395_HUMAN	V	321	ENSP00000340494:F321V;ENSP00000429640:F321V;ENSP00000428452:F321V	ENSP00000340494:F321V	F	-	1	0	ZNF395	28265203	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.081000	0.94049	1.895000	0.54865	0.459000	0.35465	TTC		0.617	ZNF395-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219976.1			C	28209284	A	C	28209284	3	2	816	1	0	0	0	0	1	0	0	0	17886	14	1	5	596	5	ZNF395	8	28209284	Missense_Mutation	SNP	A	TCGA-Y8-A894-01A-11D-A35Z-10		28209284	118154738	38	48967											
PKHD1L1	93035	hgsc.bcm.edu	37	8	110477416	110477416	+	Missense_Mutation	SNP	G	G	T			TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr8:110477416G>T	ENST00000378402.5	+	49	8459	c.8355G>T	c.(8353-8355)aaG>aaT	p.K2785N		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2785					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)			CACCGAACAAGGCTGGCTTTC	0.403										HNSCC(38;0.096)																																						0													85	88	87					8																	110477416		1953	4133	6086	SO:0001583	missense	93035			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.8355G>T	chr8.hg19:g.110477416G>T	ENSP00000367655:p.Lys2785Asn		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	hg19	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	11.62	1.693236	0.30052	.	.	ENSG00000205038	ENST00000378402	D	0.87650	-2.28	5.82	3.62	0.41486	.	0.000000	0.85682	D	0.000000	D	0.87485	0.6189	M	0.80422	2.495	0.32991	D	0.524954	B	0.25667	0.131	B	0.33690	0.168	D	0.88712	0.3223	10	0.48119	T	0.1	.	10.1947	0.43047	0.2039:0.0:0.7961:0.0	.	2785	Q86WI1	PKHL1_HUMAN	N	2785	ENSP00000367655:K2785N	ENSP00000367655:K2785N	K	+	3	2	PKHD1L1	110546592	1.000000	0.71417	1.000000	0.80357	0.140000	0.21249	2.278000	0.43426	1.382000	0.46385	0.557000	0.71058	AAG		0.403	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		T	110477416	G	T	110477416	3	4	816	1	0	0	0	0	1	0	0	0	11974	991	35	4	8549	4	PKHD1L1	8	110477416	Missense_Mutation	SNP	G	TCGA-Y8-A894-01A-11D-A35Z-10	82268132	110477416	35886606	39	48968											
FAM91A1	157769	hgsc.bcm.edu	37	8	124786386	124786386	+	Nonsense_Mutation	SNP	C	C	T			TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr8:124786386C>T	ENST00000334705.7	+	2	385	c.139C>T	c.(139-141)Cga>Tga	p.R47*	FAM91A1_ENST00000521166.1_Nonsense_Mutation_p.R47*	NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	47										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)			CAATCAGTTACGATATAGAAA	0.333																																																0													146	151	149					8																	124786386		1842	4096	5938	SO:0001587	stop_gained	157769			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.139C>T	chr8.hg19:g.124786386C>T	ENSP00000335082:p.Arg47*		B6YY23|Q658T5|Q8TE89	Nonsense_Mutation	SNP	ENST00000334705.7	hg19	CCDS6346.2	.	.	.	.	.	.	.	.	.	.	C	28.1	4.890996	0.91889	.	.	ENSG00000176853	ENST00000521166;ENST00000334705;ENST00000395537	.	.	.	5.73	5.73	0.89815	.	0.000000	0.64402	U	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7109	0.69232	0.1448:0.8551:0.0:0.0	.	.	.	.	X	47	.	ENSP00000335082:R47X	R	+	1	2	FAM91A1	124855567	1.000000	0.71417	1.000000	0.80357	0.385000	0.30292	4.279000	0.58953	2.706000	0.92434	0.655000	0.94253	CGA		0.333	FAM91A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256607.1	NM_144963		T	124786386	C	T	124786386	4	4	816	1	0	0	0	0	0	1	0	0	5653	528	19	1	145	1	FAM91A1	8	124786386	Nonsense_Mutation	SNP	C	TCGA-Y8-A894-01A-11D-A35Z-10	14308970	124786386	21577636	40	48969											
FAM122A	116224	hgsc.bcm.edu	37	9	71395705	71395705	+	Missense_Mutation	SNP	G	G	A			TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr9:71395705G>A	ENST00000394264.3	+	1	742	c.625G>A	c.(625-627)Gaa>Aaa	p.E209K	PIP5K1B_ENST00000265382.3_Intron|PIP5K1B_ENST00000541509.1_Intron	NM_138333.3	NP_612206.3	Q96E09	F122A_HUMAN	family with sequence similarity 122A	209										endometrium(1)|lung(2)	3						ATGTGAAATGGAAACTGAATA	0.468																																																0													98	97	97					9																	71395705		2203	4300	6503	SO:0001583	missense	116224			AK126379	CCDS6623.1	9q21.13	2011-02-10	2006-07-11	2006-07-11	ENSG00000187866	ENSG00000187866			23490	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 42"	C9orf42		12477932	Standard	NM_138333		Approved	MGC17347	uc004agw.1	Q96E09	OTTHUMG00000019971	ENST00000394264.3:c.625G>A	chr9.hg19:g.71395705G>A	ENSP00000377807:p.Glu209Lys			Missense_Mutation	SNP	ENST00000394264.3	hg19	CCDS6623.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829420	0.71258	.	.	ENSG00000187866	ENST00000394264;ENST00000377279	T	0.55234	0.53	4.42	4.42	0.53409	.	0.000000	0.85682	D	0.000000	T	0.67316	0.2880	M	0.64404	1.975	0.40534	D	0.980958	D	0.67145	0.996	D	0.73708	0.981	T	0.69247	-0.5195	10	0.59425	D	0.04	-51.6435	12.8382	0.57786	0.0:0.0:1.0:0.0	.	209	Q96E09	F122A_HUMAN	K	209;193	ENSP00000377807:E209K	ENSP00000366492:E193K	E	+	1	0	FAM122A	70585525	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.304000	0.78882	2.758000	0.94735	0.563000	0.77884	GAA		0.468	FAM122A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052556.1	NM_138333		A	71395705	G	A	71395705	3	1	816	1	0	0	0	0	1	0	0	0	5421	1175	41	2	627	2	FAM122A	9	71395705	Missense_Mutation	SNP	G	TCGA-Y8-A894-01A-11D-A35Z-10		71395705	69817726	41	48970											
KIF27	55582	hgsc.bcm.edu	37	9	86495384	86495384	+	Missense_Mutation	SNP	C	C	A			TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr9:86495384C>A	ENST00000297814.2	-	11	2614	c.2471G>T	c.(2470-2472)aGt>aTt	p.S824I	KIF27_ENST00000376347.1_Missense_Mutation_p.S215I|KIF27_ENST00000413982.1_Intron|KIF27_ENST00000334204.2_Missense_Mutation_p.S824I	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	824					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						CAGTTTCTTACTATCTTGTTG	0.343																																																0													179	161	167					9																	86495384		2203	4300	6503	SO:0001583	missense	55582			AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"Kinesins"	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.2471G>T	chr9.hg19:g.86495384C>A	ENSP00000297814:p.Ser824Ile		B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	ENST00000297814.2	hg19	CCDS6665.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.849807	0.51270	.	.	ENSG00000165115	ENST00000297814;ENST00000334204;ENST00000376347	T;T;T	0.31247	1.5;1.5;1.5	4.92	1.56	0.23342	.	0.214282	0.30320	N	0.009884	T	0.24547	0.0595	L	0.54323	1.7	0.32967	D	0.5218	P;P	0.42620	0.785;0.679	B;B	0.39258	0.295;0.231	T	0.34204	-0.9838	10	0.23891	T	0.37	.	9.2369	0.37473	0.0:0.3622:0.5428:0.095	.	824;824	Q86VH2-3;Q86VH2	.;KIF27_HUMAN	I	824;824;215	ENSP00000297814:S824I;ENSP00000333928:S824I;ENSP00000365525:S215I	ENSP00000297814:S824I	S	-	2	0	KIF27	85685204	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	4.424000	0.59868	0.561000	0.29186	0.484000	0.47621	AGT		0.343	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	NM_017576		A	86495384	C	A	86495384	3	1	816	1	0	0	0	0	1	0	0	0	8298	565	20	4	1766	4	KIF27	9	86495384	Missense_Mutation	SNP	C	TCGA-Y8-A894-01A-11D-A35Z-10	15099679	86495384	54718047	42	48971											
LHX6	26468	hgsc.bcm.edu	37	9	124979514	124979514	+	Missense_Mutation	SNP	C	C	A			TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr9:124979514C>A	ENST00000373755.2	-	4	536	c.428G>T	c.(427-429)tGg>tTg	p.W143L	LHX6_ENST00000340587.3_Missense_Mutation_p.W172L|LHX6_ENST00000559895.1_5'UTR|LHX6_ENST00000373754.2_Missense_Mutation_p.W143L|LHX6_ENST00000394319.4_Missense_Mutation_p.W172L|LHX6_ENST00000541397.2_Missense_Mutation_p.W161L	NM_001242334.1	NP_001229263.1	Q9UPM6	LHX6_HUMAN	LIM homeobox 6	143	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.|Required for interaction with LDB1. {ECO:0000250}.				cell maturation (GO:0048469)|cerebral cortex GABAergic interneuron migration (GO:0021853)|cerebral cortex radially oriented cell migration (GO:0021799)|cerebral cortex tangential migration (GO:0021800)|forebrain neuron fate commitment (GO:0021877)|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(2)|kidney(1)|large_intestine(5)	8						TCTCCGCACCCAGTCGCTGGC	0.667																																																0													48	48	48					9																	124979514		2203	4300	6503	SO:0001583	missense	26468			AB031041	CCDS6837.2, CCDS6838.2, CCDS56583.1, CCDS56584.1, CCDS59144.1	9q33.2	2011-06-20			ENSG00000106852	ENSG00000106852		"Homeoboxes / LIM class"	21735	protein-coding gene	gene with protein product		608215				10393337	Standard	NM_014368		Approved	LHX6.1	uc004blx.4	Q9UPM6	OTTHUMG00000020601	ENST00000373755.2:c.428G>T	chr9.hg19:g.124979514C>A	ENSP00000362860:p.Trp143Leu		A6PVQ1|A6PVQ2|A8K1B2|B7Z4D0|H0YN76|Q5T7S7|Q5T7S8|Q9NTK3|Q9UPM5	Missense_Mutation	SNP	ENST00000373755.2	hg19	CCDS56583.1	.	.	.	.	.	.	.	.	.	.	C	35	5.590064	0.96590	.	.	ENSG00000106852	ENST00000373755;ENST00000373754;ENST00000394319;ENST00000340587;ENST00000541397	D;D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01;-2.01	5.87	5.87	0.94306	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	D	0.85427	0.5694	N	0.11789	0.175	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	0.82366	-0.0493	10	0.17369	T	0.5	.	19.1961	0.93690	0.0:1.0:0.0:0.0	.	143;172;172	Q9UPM6;Q9UPM6-4;Q9UPM6-3	LHX6_HUMAN;.;.	L	143;143;172;172;161	ENSP00000362860:W143L;ENSP00000362859:W143L;ENSP00000377854:W172L;ENSP00000340137:W172L;ENSP00000441464:W161L	ENSP00000340137:W172L	W	-	2	0	LHX6	124019335	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.920000	0.70017	2.781000	0.95711	0.655000	0.94253	TGG		0.667	LHX6-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053924.2	NM_014368		A	124979514	C	A	124979514	3	1	816	1	0	0	0	0	1	0	0	0	8777	595	21	4	746	4	LHX6	9	124979514	Missense_Mutation	SNP	C	TCGA-Y8-A894-01A-11D-A35Z-10	38484130	124979514	16233917	43	48972											
MAPKAP1	79109	hgsc.bcm.edu	37	9	128230280	128230280	+	Missense_Mutation	SNP	G	G	A			TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr9:128230280G>A	ENST00000373498.1	-	9	1384	c.1316C>T	c.(1315-1317)gCc>gTc	p.A439V	MAPKAP1_ENST00000265960.3_Missense_Mutation_p.A439V|MAPKAP1_ENST00000350766.3_Missense_Mutation_p.A403V|MAPKAP1_ENST00000373511.2_Missense_Mutation_p.A392V|MAPKAP1_ENST00000483937.1_5'UTR|MAPKAP1_ENST00000373503.3_Missense_Mutation_p.A247V|MAPKAP1_ENST00000394063.1_Missense_Mutation_p.A247V|MAPKAP1_ENST00000373497.5_Missense_Mutation_p.A152V			Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	439					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 Ras protein signal transduction (GO:0046580)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|substantia nigra development (GO:0021762)|T cell costimulation (GO:0031295)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein kinase binding (GO:0019901)|Ras GTPase binding (GO:0017016)			endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						AAGGTCACAGGCACAGAGCAG	0.468																																																0													175	170	172					9																	128230280		2203	4300	6503	SO:0001583	missense	79109			M37191	CCDS6864.1, CCDS35139.1, CCDS35140.1, CCDS35141.1, CCDS48020.1	9q34.11	2008-02-05			ENSG00000119487	ENSG00000119487			18752	protein-coding gene	gene with protein product	"stress-activated protein kinase-interacting 1"	610558				15363842	Standard	NM_001006620		Approved	MGC2745, SIN1, MIP1	uc004bpv.3	Q9BPZ7	OTTHUMG00000020683	ENST00000373498.1:c.1316C>T	chr9.hg19:g.128230280G>A	ENSP00000362597:p.Ala439Val		A8K1Z5|B1AMA4|B7Z309|Q00426|Q5JSV5|Q5JSV6|Q5JSV9|Q658R0|Q699U1|Q699U2|Q699U3|Q699U4|Q6GVJ0|Q6GVJ1|Q6GVJ2	Missense_Mutation	SNP	ENST00000373498.1	hg19	CCDS35140.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.959084	0.74016	.	.	ENSG00000119487	ENST00000373511;ENST00000350766;ENST00000373503;ENST00000373498;ENST00000265960;ENST00000394063;ENST00000373497;ENST00000420643	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.67239	0.2872	M	0.69823	2.125	0.80722	D	1	P;P;P;P	0.40534	0.72;0.702;0.649;0.629	B;B;B;B	0.42959	0.335;0.342;0.254;0.403	T	0.61802	-0.6988	9	0.17369	T	0.5	-9.146	20.6593	0.99626	0.0:0.0:1.0:0.0	.	152;392;403;439	B7Z5E5;Q9BPZ7-3;Q9BPZ7-2;Q9BPZ7	.;.;.;SIN1_HUMAN	V	392;403;247;439;439;247;152;211	.	ENSP00000265960:A439V	A	-	2	0	MAPKAP1	127270101	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.885000	0.99019	0.655000	0.94253	GCC		0.468	MAPKAP1-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054092.1			A	128230280	G	A	128230280	3	1	816	1	0	0	0	0	1	0	0	0	9290	1203	42	2	264	2	MAPKAP1	9	128230280	Missense_Mutation	SNP	G	TCGA-Y8-A894-01A-11D-A35Z-10	3250766	128230280	12983151	44	48973											
URM1	81605	hgsc.bcm.edu	37	9	131151666	131151667	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	GG	GG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr9:131151666_131151667delGG	ENST00000452446.1	+	4	377_378	c.315_316delGG	c.(313-318)caggcafs	p.QA105fs	RP11-339B21.11_ENST00000609303.1_lincRNA|URM1_ENST00000483206.1_3'UTR|URM1_ENST00000372853.4_Intron|URM1_ENST00000372850.1_3'UTR	NM_001135947.2	NP_001129419.1			ubiquitin related modifier 1											cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	5						CCTCTCCTCAGGCACATATAGA	0.629																																																0																																										SO:0001589	frameshift_variant	81605			AK097029	CCDS6900.1, CCDS48035.1, CCDS59148.1	9q34.13	2010-06-24	2010-06-24	2006-11-28	ENSG00000167118	ENSG00000167118			28378	protein-coding gene	gene with protein product		612693	"chromosome 9 open reading frame 74", "ubiquitin related modifier 1 homolog (S. cerevisiae)"	C9orf74		16046629, 16864801	Standard	NM_030914		Approved	MGC2668	uc011may.2	Q9BTM9	OTTHUMG00000020742	ENST00000452446.1:c.315_316delGG	chr9.hg19:g.131151666_131151667delGG	ENSP00000412922:p.Gln105fs			Frame_Shift_Del	DEL	ENST00000452446.1	hg19	CCDS48035.1																																																																																				0.629	URM1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_030914		-	131151667	GG	-	131151666	7	5	816	1	0	1	0	1	0	0	0	0	17032	991	35	0	329	0	URM1	9	131151666	Frame_Shift_Del	DEL	GG	TCGA-Y8-A894-01A-11D-A35Z-10	2921386	131151666	10061765	45	48974											
PITRM1	10531	hgsc.bcm.edu	37	10	3208566	3208567	+	Missense_Mutation	DNP	CT	CT	TG	rs28416720|rs33996077|rs4266975|rs148472807|rs114690446	byFrequency	TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	C|T	C|T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr10:3208566_3208567CT>TG	ENST00000224949.4	-	4	306_307	c.272_273AG>CA	c.(271-273)cAG>cCA	p.Q91P	PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000451104.2_Missense_Mutation_p.Q59P|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000380989.2_Missense_Mutation_p.Q91P			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	91					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						TAGTACGGAACTGCACGCTAGG	0.49																																																0																																										SO:0001583	missense	10531			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.272_273delinsTG	chr10.hg19:g.3208566_3208567delinsTG	ENSP00000224949:p.Gln91Pro		B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Silent|Missense_Mutation	SNP	ENST00000224949.4	hg19	CCDS59208.1																																																																																				0.49	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046469.2			TG	3208567	CT	TG	3208566	3	4	816	1	0	0	0	0	1	0	0	0	11955	564	20	2	2936	2	PITRM1	10	3208566	Missense_Mutation	DNP	CT	TCGA-Y8-A894-01A-11D-A35Z-10		3208566	132326181	46	48975											
HSPA14	51182	hgsc.bcm.edu	37	10	14909284	14909284	+	Frame_Shift_Del	DEL	T	T	-			TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr10:14909284delT	ENST00000378372.3	+	11	1435	c.1196delT	c.(1195-1197)attfs	p.I399fs		NM_016299.2	NP_057383.2	Q0VDF9	HSP7E_HUMAN	heat shock 70kDa protein 14	399					'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						GCCAGAGATATTTTAGTTAAG	0.318																																																0													80	82	81					10																	14909284		2203	4300	6503	SO:0001589	frameshift_variant	51182			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.1196delT	chr10.hg19:g.14909284delT	ENSP00000367623:p.Ile399fs		A8K8F8|B0YIY9|Q9P0X2|Q9UI07	Frame_Shift_Del	DEL	ENST00000378372.3	hg19	CCDS7103.1																																																																																				0.318	HSPA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046910.1	NM_016299		-	14909284	T	-	14909284	7	5	816	1	0	1	0	1	0	0	0	0	7409	1493	52	0	1238	0	HSPA14	10	14909284	Frame_Shift_Del	DEL	T	TCGA-Y8-A894-01A-11D-A35Z-10	11700718	14909284	120625463	47	48976											
ANK3	288	hgsc.bcm.edu	37	10	61868591	61868591	+	Nonsense_Mutation	SNP	A	A	T			TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr10:61868591A>T	ENST00000280772.2	-	27	3361	c.3170T>A	c.(3169-3171)tTa>tAa	p.L1057*	ANK3_ENST00000355288.2_Nonsense_Mutation_p.L191*|ANK3_ENST00000503366.1_Nonsense_Mutation_p.L1058*|ANK3_ENST00000373827.2_Nonsense_Mutation_p.L1051*	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1057	ZU5 1. {ECO:0000255|PROSITE- ProRule:PRU00485}.				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						AACTTACCCTAAAAATTGTGC	0.433																																																0													55	59	58					10																	61868591		2203	4300	6503	SO:0001587	stop_gained	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.3170T>A	chr10.hg19:g.61868591A>T	ENSP00000280772:p.Leu1057*		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Nonsense_Mutation	SNP	ENST00000280772.2	hg19	CCDS7258.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	42|42	9.181035|9.181035	0.99092|0.99092	.|.	.|.	ENSG00000151150|ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000355288;ENST00000423532;ENST00000503366;ENST00000395299;ENST00000373817;ENST00000395293;ENST00000395304;ENST00000544789;ENST00000536348;ENST00000373815|ENST00000467420	.|.	.|.	.|.	6.04|6.04	6.04|6.04	0.98038|0.98038	.|.	0.000000|.	0.33401|.	N|.	0.004958|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.02654|.	T|.	1|.	.|.	16.5885|16.5885	0.84745|0.84745	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|.	.|.	.|.	X|K	1057;1051;191;191;1058;1037;292;692;692;190;590;182|82	.|.	ENSP00000280772:L1057X|.	L|X	-|-	2|1	0|0	ANK3|ANK3	61538597|61538597	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	9.339000|9.339000	0.96797|0.96797	2.317000|2.317000	0.78254|0.78254	0.460000|0.460000	0.39030|0.39030	TTA|TAG		0.433	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		T	61868591	A	T	61868591	4	4	816	1	0	0	0	0	0	1	0	0	622	372	13	5	10344	5	ANK3	10	61868591	Nonsense_Mutation	SNP	A	TCGA-Y8-A894-01A-11D-A35Z-10	46959307	61868591	73666156	48	48977											
VCL	7414	hgsc.bcm.edu	37	10	75877813	75877813	+	Missense_Mutation	SNP	C	C	G			TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr10:75877813C>G	ENST00000211998.4	+	22	3385	c.3291C>G	c.(3289-3291)aaC>aaG	p.N1097K	RP11-178G16.4_ENST00000598318.1_lincRNA|VCL_ENST00000417648.2_Missense_Mutation_p.N290K|VCL_ENST00000372755.3_Missense_Mutation_p.N1029K|RP11-178G16.5_ENST00000599110.1_lincRNA	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	1097	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)					ATGCCCAGAACCTCATGCAGT	0.493																																																0													160	144	149					10																	75877813		2203	4300	6503	SO:0001583	missense	7414			M33308	CCDS7340.1, CCDS7341.1	10q22.1-q23	2014-09-17			ENSG00000035403	ENSG00000035403			12665	protein-coding gene	gene with protein product	"metavinculin"	193065				1339348	Standard	NM_014000		Approved		uc001jwd.3	P18206	OTTHUMG00000018498	ENST00000211998.4:c.3291C>G	chr10.hg19:g.75877813C>G	ENSP00000211998:p.Asn1097Lys		Q16450|Q5SWX2|Q7Z3B8|Q8IXU7	Missense_Mutation	SNP	ENST00000211998.4	hg19	CCDS7341.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.228247	0.79576	.	.	ENSG00000035403	ENST00000372755;ENST00000211998;ENST00000417648;ENST00000537043;ENST00000436396	T;T;T;T	0.61980	0.06;0.06;0.06;0.06	5.5	4.6	0.57074	.	0.043322	0.85682	D	0.000000	T	0.77458	0.4133	M	0.75777	2.31	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;0.999;0.999	D;D;D;D	0.85130	0.997;0.978;0.977;0.945	T	0.79971	-0.1578	10	0.87932	D	0	.	12.3333	0.55051	0.0:0.8596:0.0:0.1404	.	290;956;1029;1097	B4DTM7;F5H7T3;P18206-2;P18206	.;.;.;VINC_HUMAN	K	1029;1097;290;956;769	ENSP00000361841:N1029K;ENSP00000211998:N1097K;ENSP00000411887:N290K;ENSP00000415489:N769K	ENSP00000211998:N1097K	N	+	3	2	VCL	75547819	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.553000	0.36255	1.325000	0.45301	0.655000	0.94253	AAC		0.493	VCL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003373, NM_014000		G	75877813	C	G	75877813	3	3	816	1	0	0	0	0	1	0	0	0	17144	506	18	4	3377	4	VCL	10	75877813	Missense_Mutation	SNP	C	TCGA-Y8-A894-01A-11D-A35Z-10	14009222	75877813	59656934	49	48978											
RRP12	23223	hgsc.bcm.edu	37	10	99120318	99120318	+	Missense_Mutation	SNP	G	G	A	rs370146748		TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr10:99120318G>A	ENST00000370992.4	-	31	3736	c.3625C>T	c.(3625-3627)Ccc>Tcc	p.P1209S	RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000536831.1_Missense_Mutation_p.P927S|RRP12_ENST00000414986.1_Missense_Mutation_p.P1148S|RRP12_ENST00000315563.6_Missense_Mutation_p.P1109S	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	1209						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)		TACTGAGGGGGTATCTCCAGC	0.557																																																0								G	SER/PRO,SER/PRO	1,4405	2.1+/-5.4	0,1,2202	178	150	160		3442,3625	4.5	0.4	10		160	0,8600		0,0,4300	no	missense,missense	RRP12	NM_001145114.1,NM_015179.3	74,74	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	1148/1237,1209/1298	99120318	1,13005	2203	4300	6503	SO:0001583	missense	23223				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.3625C>T	chr10.hg19:g.99120318G>A	ENSP00000360031:p.Pro1209Ser		B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Missense_Mutation	SNP	ENST00000370992.4	hg19	CCDS7457.1	.	.	.	.	.	.	.	.	.	.	G	10.48	1.361285	0.24684	2.27E-4	0.0	ENSG00000052749	ENST00000370992;ENST00000315563;ENST00000414986;ENST00000536831	T;T;T;T	0.26957	1.7;1.7;1.7;1.7	5.44	4.52	0.55395	.	0.325404	0.32459	N	0.006067	T	0.13329	0.0323	N	0.25060	0.705	0.09310	N	1	B;B;B;B	0.31769	0.339;0.154;0.332;0.121	B;B;B;B	0.30572	0.055;0.02;0.117;0.021	T	0.23940	-1.0174	10	0.08599	T	0.76	-13.4716	7.0747	0.25197	0.087:0.0:0.7401:0.1729	.	1148;1109;927;1209	E9PCK7;Q5JTH9-2;F5H456;Q5JTH9	.;.;.;RRP12_HUMAN	S	1209;1109;1148;927	ENSP00000360031:P1209S;ENSP00000324315:P1109S;ENSP00000414863:P1148S;ENSP00000446184:P927S	ENSP00000324315:P1109S	P	-	1	0	RRP12	99110308	0.708000	0.27876	0.416000	0.26546	0.833000	0.47200	3.456000	0.53000	1.253000	0.44018	0.462000	0.41574	CCC		0.557	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4	NM_015179		A	99120318	G	A	99120318	3	1	816	1	0	0	0	0	1	0	0	0	13692	1261	44	2	284	2	RRP12	10	99120318	Missense_Mutation	SNP	G	TCGA-Y8-A894-01A-11D-A35Z-10	23242505	99120318	36414429	50	48979											
RRP12	23223	hgsc.bcm.edu	37	10	99126540	99126540	+	Silent	SNP	C	C	T			TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr10:99126540C>T	ENST00000370992.4	-	27	3285	c.3174G>A	c.(3172-3174)gaG>gaA	p.E1058E	RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000536831.1_Silent_p.E776E|RRP12_ENST00000414986.1_Silent_p.E997E|RRP12_ENST00000315563.6_Silent_p.E958E	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	1058	Glu-rich.					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)		cctcctcctcctcttcttcct	0.662																																																0													94	108	103					10																	99126540		2203	4300	6503	SO:0001819	synonymous_variant	23223				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.3174G>A	chr10.hg19:g.99126540C>T			B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Silent	SNP	ENST00000370992.4	hg19	CCDS7457.1																																																																																				0.662	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4	NM_015179		T	99126540	C	T	99126540	2	4	816	1	0	0	0	0	0	0	0	1	13692	680	24	2		2	RRP12	10	99126540	Silent	SNP	C	TCGA-Y8-A894-01A-11D-A35Z-10	6222	99126540	36408207	51	48980											
GBF1	8729	hgsc.bcm.edu	37	10	104136491	104136491	+	Missense_Mutation	SNP	A	A	G			TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr10:104136491A>G	ENST00000369983.3	+	32	4479	c.4219A>G	c.(4219-4221)Aca>Gca	p.T1407A		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	1407					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)		TGCCCACATCACACCTGACAA	0.552																																																0													91	86	88					10																	104136491		2203	4300	6503	SO:0001583	missense	8729			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.4219A>G	chr10.hg19:g.104136491A>G	ENSP00000359000:p.Thr1407Ala		Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	hg19	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.437435	0.83885	.	.	ENSG00000107862	ENST00000369983	T	0.24350	1.86	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.54447	0.1859	M	0.82193	2.58	0.80722	D	1	D;D;P	0.89917	1.0;0.997;0.901	D;P;P	0.85130	0.997;0.872;0.458	T	0.61686	-0.7012	10	0.72032	D	0.01	-11.5608	14.8604	0.70376	1.0:0.0:0.0:0.0	.	1407;1407;1407	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	A	1407	ENSP00000359000:T1407A	ENSP00000359000:T1407A	T	+	1	0	GBF1	104126481	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.139000	0.94554	2.100000	0.63781	0.379000	0.24179	ACA		0.552	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			G	104136491	A	G	104136491	3	3	816	1	0	0	0	0	1	0	0	0	6273	159	6	3	4341	3	GBF1	10	104136491	Missense_Mutation	SNP	A	TCGA-Y8-A894-01A-11D-A35Z-10	5009951	104136491	31398256	52	48981											
MUC5B	727897	hgsc.bcm.edu	37	11	1256589	1256589	+	Frame_Shift_Del	DEL	C	C	-			TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr11:1256589delC	ENST00000529681.1	+	23	2884	c.2826delC	c.(2824-2826)atcfs	p.I942fs	MUC5B_ENST00000447027.1_Frame_Shift_Del_p.I945fs	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	942	VWFD 3. {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)		CCGAGAACATCCCCTGTGGGA	0.647																																																0													53	60	58					11																	1256589		2118	4223	6341	SO:0001589	frameshift_variant	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.2826delC	chr11.hg19:g.1256589delC	ENSP00000436812:p.Ile942fs		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Frame_Shift_Del	DEL	ENST00000529681.1	hg19	CCDS44515.2																																																																																				0.647	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		-	1256589	C	-	1256589	7	5	816	1	0	1	0	1	0	0	0	0	9981	845	30	0	2925	0	MUC5B	11	1256589	Frame_Shift_Del	DEL	C	TCGA-Y8-A894-01A-11D-A35Z-10		1256589	133749927	53	48982											
SFRS2IP	9169	hgsc.bcm.edu	37	12	46327006	46327006	+	Silent	SNP	A	A	G			TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr12:46327006A>G	ENST00000369367.3	-	9	875	c.642T>C	c.(640-642)ttT>ttC	p.F214F	SCAF11_ENST00000419565.2_Silent_p.F214F|SCAF11_ENST00000549162.1_Silent_p.F22F	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	214					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						TGGCTTCTATAAATTCTGTAC	0.328																																																0													78	73	75					12																	46327006		1813	4064	5877	SO:0001819	synonymous_variant	9169			Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"RING-type (C3HC4) zinc fingers"	10784	protein-coding gene	gene with protein product		603668	"splicing factor, arginine/serine-rich 2, interacting protein", "serine/arginine-rich splicing factor 2, interacting protein"	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.642T>C	chr12.hg19:g.46327006A>G			A6NEU9|A6NLW5|Q8IW59	Silent	SNP	ENST00000369367.3	hg19	CCDS8748.2																																																																																				0.328	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		G	46327006	A	G	46327006	2	3	816	1	0	0	0	0	0	0	0	1	14183	359	13	3		3	SFRS2IP	12	46327006	Silent	SNP	A	TCGA-Y8-A894-01A-11D-A35Z-10		46327006	87524889	54	48983											
GRASP	160622	hgsc.bcm.edu	37	12	52401044	52401044	+	Nonsense_Mutation	SNP	C	C	T			TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr12:52401044C>T	ENST00000293662.4	+	1	321	c.241C>T	c.(241-243)Cga>Tga	p.R81*		NM_181711.2	NP_859062.1	Q7Z6J2	GRASP_HUMAN	GRP1 (general receptor for phosphoinositides 1)-associated scaffold protein	81					protein localization (GO:0008104)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				central_nervous_system(1)|large_intestine(1)|lung(1)|skin(2)	5				BRCA - Breast invasive adenocarcinoma(357;0.0967)		CCTGCCCCGCCGAAAGGTGCG	0.731																																																0													9	10	10					12																	52401044		1849	3898	5747	SO:0001587	stop_gained	160622			AC019244	CCDS8817.1, CCDS61124.1	12q13.13	2011-09-02			ENSG00000161835	ENSG00000161835			18707	protein-coding gene	gene with protein product		612027				10828067	Standard	NM_001271856		Approved		uc001rzo.2	Q7Z6J2	OTTHUMG00000169595	ENST00000293662.4:c.241C>T	chr12.hg19:g.52401044C>T	ENSP00000293662:p.Arg81*		Q6PIF8|Q7Z741	Nonsense_Mutation	SNP	ENST00000293662.4	hg19	CCDS8817.1	.	.	.	.	.	.	.	.	.	.	C	33	5.198082	0.94997	.	.	ENSG00000161835	ENST00000293662	.	.	.	4.74	3.78	0.43462	.	0.563109	0.17616	N	0.167905	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	-0.1895	10.1004	0.42502	0.0:0.7959:0.2041:0.0	.	.	.	.	X	81	.	ENSP00000293662:R81X	R	+	1	2	GRASP	50687311	1.000000	0.71417	1.000000	0.80357	0.333000	0.28666	1.223000	0.32527	2.194000	0.70268	0.549000	0.68633	CGA		0.731	GRASP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404972.1			T	52401044	C	T	52401044	4	4	816	1	0	0	0	0	0	1	0	0	6757	644	23	1	243	1	GRASP	12	52401044	Nonsense_Mutation	SNP	C	TCGA-Y8-A894-01A-11D-A35Z-10	6074038	52401044	81450851	55	48984											
ANKS1B	56899	hgsc.bcm.edu	37	12	99478796	99478796	+	Silent	SNP	G	G	A			TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr12:99478796G>A	ENST00000547776.2	-	16	2531	c.2532C>T	c.(2530-2532)agC>agT	p.S844S	ANKS1B_ENST00000546960.1_Silent_p.S70S|ANKS1B_ENST00000550693.2_Silent_p.S70S|ANKS1B_ENST00000547446.1_Silent_p.S39S|ANKS1B_ENST00000549025.2_Silent_p.S13S|ANKS1B_ENST00000329257.7_Silent_p.S844S|ANKS1B_ENST00000549493.2_Silent_p.S70S|ANKS1B_ENST00000547010.1_Silent_p.S420S|RNA5SP366_ENST00000365454.1_RNA|ANKS1B_ENST00000549558.2_Silent_p.S70S|ANKS1B_ENST00000332712.7_Silent_p.S70S|ANKS1B_ENST00000546568.1_Silent_p.S70S	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	844	SAM 1. {ECO:0000255|PROSITE- ProRule:PRU00184}.					cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CCATAACATTGCTTCCCTGAA	0.358																																																0													70	66	67					12																	99478796		1839	4088	5927	SO:0001819	synonymous_variant	56899			AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.2532C>T	chr12.hg19:g.99478796G>A			A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Silent	SNP	ENST00000547776.2	hg19	CCDS55872.1	.	.	.	.	.	.	.	.	.	.	G	9.174	1.021948	0.19433	.	.	ENSG00000185046	ENST00000550778	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	T	0.71745	0.3376	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70554	-0.4840	4	.	.	.	-9.1482	15.8445	0.78876	0.0:0.0:1.0:0.0	.	.	.	.	V	116	.	.	A	-	2	0	ANKS1B	98002927	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.521000	0.45563	2.491000	0.84063	0.561000	0.74099	GCA		0.358	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140		A	99478796	G	A	99478796	2	1	816	1	0	0	0	0	0	0	0	1	689	1310	46	2		2	ANKS1B	12	99478796	Silent	SNP	G	TCGA-Y8-A894-01A-11D-A35Z-10	47077752	99478796	34373099	56	48985											
CCDC63	160762	hgsc.bcm.edu	37	12	111345141	111345141	+	Missense_Mutation	SNP	A	A	T			TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr12:111345141A>T	ENST00000308208.5	+	12	1795	c.1553A>T	c.(1552-1554)cAg>cTg	p.Q518L	CCDC63_ENST00000545036.1_Missense_Mutation_p.Q478L|CCDC63_ENST00000552694.1_Missense_Mutation_p.Q439L	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	518										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						GCAGTGGAACAGCCCCTGGAC	0.567																																																0													47	42	44					12																	111345141		2203	4300	6503	SO:0001583	missense	160762			AK093162	CCDS9151.1, CCDS66470.1, CCDS73528.1	12q24.11	2013-02-19				ENSG00000173093			26669	protein-coding gene	gene with protein product	"outer row dynein assembly 5 homolog (Chlamydomonas)"						Standard	NM_001286243		Approved	ODA5, FLJ35843	uc001trv.1	Q8NA47	OTTHUMG00000169534	ENST00000308208.5:c.1553A>T	chr12.hg19:g.111345141A>T	ENSP00000312399:p.Gln518Leu		B4DY03|Q0P603|Q6P2E1	Missense_Mutation	SNP	ENST00000308208.5	hg19	CCDS9151.1	.	.	.	.	.	.	.	.	.	.	A	0.037	-1.304034	0.01353	.	.	ENSG00000173093	ENST00000545036;ENST00000308208;ENST00000552694	T;T;T	0.31247	1.51;1.5;1.5	4.01	2.83	0.33086	.	0.831369	0.10661	N	0.648749	T	0.27967	0.0689	L	0.60455	1.87	0.09310	N	1	B	0.25904	0.137	B	0.18561	0.022	T	0.18461	-1.0336	10	0.35671	T	0.21	.	7.749	0.28886	0.7879:0.2121:0.0:0.0	.	518	Q8NA47	CCD63_HUMAN	L	478;518;439	ENSP00000445881:Q478L;ENSP00000312399:Q518L;ENSP00000450217:Q439L	ENSP00000312399:Q518L	Q	+	2	0	CCDC63	109829524	0.002000	0.14202	0.164000	0.22755	0.032000	0.12392	1.254000	0.32897	0.679000	0.31345	0.444000	0.29173	CAG		0.567	CCDC63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404673.2	NM_152591		T	111345141	A	T	111345141	3	4	816	1	0	0	0	0	1	0	0	0	2836	188	7	5	1595	5	CCDC63	12	111345141	Missense_Mutation	SNP	A	TCGA-Y8-A894-01A-11D-A35Z-10	11866345	111345141	22506754	57	48986											
WDR66	144406	hgsc.bcm.edu	37	12	122406042	122406042	+	Missense_Mutation	SNP	A	A	G			TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr12:122406042A>G	ENST00000288912.4	+	17	3592	c.2738A>G	c.(2737-2739)gAt>gGt	p.D913G	WDR66_ENST00000397454.2_Missense_Mutation_p.D913G|WDR66_ENST00000545752.1_3'UTR	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	913							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)		GGAGGGCACGATCGCTCGGTG	0.527																																					Esophageal Squamous(85;849 1794 49757 52143)											0													57	58	58					12																	122406042		1997	4168	6165	SO:0001583	missense	144406			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.2738A>G	chr12.hg19:g.122406042A>G	ENSP00000288912:p.Asp913Gly		C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Missense_Mutation	SNP	ENST00000288912.4	hg19	CCDS41853.1	.	.	.	.	.	.	.	.	.	.	A	16.56	3.157682	0.57368	.	.	ENSG00000158023	ENST00000288912;ENST00000397454	T;T	0.64803	-0.12;0.59	5.19	5.19	0.71726	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.80171	0.4574	M	0.88979	2.995	0.58432	D	0.999997	D	0.71674	0.998	P	0.61003	0.882	D	0.84817	0.0794	10	0.87932	D	0	.	15.0447	0.71819	1.0:0.0:0.0:0.0	.	913	Q8TBY9	WDR66_HUMAN	G	913	ENSP00000288912:D913G;ENSP00000380595:D913G	ENSP00000288912:D913G	D	+	2	0	WDR66	120890425	1.000000	0.71417	0.039000	0.18376	0.027000	0.11550	7.687000	0.84139	1.960000	0.56953	0.459000	0.35465	GAT		0.527	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401700.1	NM_144668		G	122406042	A	G	122406042	3	3	816	1	0	0	0	0	1	0	0	0	17322	333	12	3	2800	3	WDR66	12	122406042	Missense_Mutation	SNP	A	TCGA-Y8-A894-01A-11D-A35Z-10	11060901	122406042	11445853	58	48987											
SHISA2	387914	hgsc.bcm.edu	37	13	26621071	26621071	+	Silent	SNP	C	C	A			TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr13:26621071C>A	ENST00000319420.3	-	2	523	c.468G>T	c.(466-468)ggG>ggT	p.G156G		NM_001007538.1	NP_001007539.1	Q6UWI4	SHSA2_HUMAN	shisa family member 2	156					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	17						AGCGGTTACCCCCTGGGGCTC	0.632																																																0													39	40	40					13																	26621071		2203	4300	6503	SO:0001819	synonymous_variant	387914				CCDS31951.1	13q12.13	2013-07-31	2013-07-31	2008-04-01	ENSG00000180730	ENSG00000180730		"Shisa homologs"	20366	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 13", "transmembrane protein 46", "shisa homolog 2 (Xenopus laevis)"	C13orf13, TMEM46			Standard	NM_001007538		Approved	bA398O19.2, PRO28631, WGAR9166, hShisa	uc001uqm.1	Q6UWI4	OTTHUMG00000016612	ENST00000319420.3:c.468G>T	chr13.hg19:g.26621071C>A			B9EH70|Q5W0G8	Silent	SNP	ENST00000319420.3	hg19	CCDS31951.1																																																																																				0.632	SHISA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044239.2	NM_001007538		A	26621071	C	A	26621071	2	1	816	1	0	0	0	0	0	0	0	1	14286	610	22	4		4	SHISA2	13	26621071	Silent	SNP	C	TCGA-Y8-A894-01A-11D-A35Z-10		26621071	88548807	59	48988											
TSC22D1	8848	hgsc.bcm.edu	37	13	45149121	45149121	+	Missense_Mutation	SNP	A	A	C			TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr13:45149121A>C	ENST00000458659.2	-	1	1580	c.1090T>G	c.(1090-1092)Ttg>Gtg	p.L364V	TSC22D1_ENST00000501704.2_Missense_Mutation_p.L364V|TSC22D1_ENST00000460842.1_5'Flank	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	364					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)		ATGCCACTCAAGATATTCACA	0.463																																																0													112	96	102					13																	45149121		2203	4300	6503	SO:0001583	missense	8848			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.1090T>G	chr13.hg19:g.45149121A>C	ENSP00000397435:p.Leu364Val		B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	Missense_Mutation	SNP	ENST00000458659.2	hg19	CCDS31966.1	.	.	.	.	.	.	.	.	.	.	A	13.02	2.111211	0.37242	.	.	ENSG00000102804	ENST00000458659;ENST00000501704	T;T	0.26067	1.76;1.76	4.49	3.31	0.37934	.	0.000000	0.43260	D	0.000582	T	0.21962	0.0529	L	0.29908	0.895	0.26148	N	0.980186	P;P	0.50528	0.936;0.895	P;P	0.50934	0.654;0.452	T	0.04467	-1.0949	10	0.27785	T	0.31	.	6.2454	0.20813	0.7965:0.0:0.2035:0.0	.	364;364	B3KRL7;Q15714	.;T22D1_HUMAN	V	364	ENSP00000397435:L364V;ENSP00000437414:L364V	ENSP00000397435:L364V	L	-	1	2	TSC22D1	44047121	0.151000	0.22747	1.000000	0.80357	0.998000	0.95712	0.029000	0.13666	1.874000	0.54306	0.459000	0.35465	TTG		0.463	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044743.2	NM_006022		C	45149121	A	C	45149121	3	2	816	1	0	0	0	0	1	0	0	0	16612	69	3	5	2272	5	TSC22D1	13	45149121	Missense_Mutation	SNP	A	TCGA-Y8-A894-01A-11D-A35Z-10	18528050	45149121	70020757	60	48989											
EDDM3A	10876	hgsc.bcm.edu	37	14	21215971	21215972	+	Frame_Shift_Ins	INS	-	-	CT	rs149270684	byFrequency	TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr14:21215971_21215972insCT	ENST00000326842.2	+	2	359_360	c.232_233insCT	c.(232-234)cgtfs	p.R78fs		NM_006683.4	NP_006674.2	Q14507	EP3A_HUMAN	epididymal protein 3A	78					sperm displacement (GO:0007321)	extracellular space (GO:0005615)				breast(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						CAAAATTCAGCGTGCATGCATC	0.436																																																0																																										SO:0001589	frameshift_variant	10876			X76383	CCDS9556.1	14q11.1	2010-03-19	2010-01-27	2010-01-27	ENSG00000181562	ENSG00000181562			16978	protein-coding gene	gene with protein product		611580	"family with sequence similarity 12, member A"	FAM12A		7514008	Standard	NM_006683		Approved	HE3-ALPHA	uc001vyc.3	Q14507	OTTHUMG00000029581	Exception_encountered	chr14.hg19:g.21215971_21215972insCT	ENSP00000315098:p.Arg78fs		Q4KN33	Frame_Shift_Ins	INS	ENST00000326842.2	hg19	CCDS9556.1																																																																																				0.436	EDDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073742.3			CT	21215972	-	CT	21215971	7	5	816	1	0	1	1	0	0	0	0	0	4911	768	27	0	234	0	EDDM3A	14	21215971	Frame_Shift_Ins	INS	-	TCGA-Y8-A894-01A-11D-A35Z-10		21215971	86133569	61	48990	525	2									
EDDM3A	10876	hgsc.bcm.edu	37	14	21215972	21215972	+	Missense_Mutation	SNP	G	G	C	rs149270684	byFrequency	TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr14:21215972G>C	ENST00000326842.2	+	2	360	c.233G>C	c.(232-234)cGt>cCt	p.R78P		NM_006683.4	NP_006674.2	Q14507	EP3A_HUMAN	epididymal protein 3A	78					sperm displacement (GO:0007321)	extracellular space (GO:0005615)				breast(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						AAAATTCAGCGTGCATGCATC	0.438																																																0													103	100	101					14																	21215972		2203	4300	6503	SO:0001583	missense	10876			X76383	CCDS9556.1	14q11.1	2010-03-19	2010-01-27	2010-01-27	ENSG00000181562	ENSG00000181562			16978	protein-coding gene	gene with protein product		611580	"family with sequence similarity 12, member A"	FAM12A		7514008	Standard	NM_006683		Approved	HE3-ALPHA	uc001vyc.3	Q14507	OTTHUMG00000029581	ENST00000326842.2:c.233G>C	chr14.hg19:g.21215972G>C	ENSP00000315098:p.Arg78Pro		Q4KN33	Missense_Mutation	SNP	ENST00000326842.2	hg19	CCDS9556.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.833295	0.32421	.	.	ENSG00000181562	ENST00000326842	T	0.73469	-0.75	2.46	-0.0476	0.13842	Ribonuclease A, domain (2);	1.533360	0.04073	N	0.308328	T	0.73636	0.3612	L	0.40543	1.245	0.09310	N	1	P	0.52842	0.956	P	0.53224	0.721	T	0.59188	-0.7501	10	0.66056	D	0.02	.	4.437	0.11555	0.6155:0.0:0.3845:0.0	.	78	Q14507	EP3A_HUMAN	P	78	ENSP00000315098:R78P	ENSP00000315098:R78P	R	+	2	0	EDDM3A	20285812	0.000000	0.05858	0.002000	0.10522	0.167000	0.22549	0.137000	0.15995	-0.150000	0.11195	0.313000	0.20887	CGT		0.438	EDDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073742.3			C	21215972	G	C	21215972	3	2	816	1	0	0	0	0	1	0	0	0	4911	1145	40	4	235	4	EDDM3A	14	21215972	Missense_Mutation	SNP	G	TCGA-Y8-A894-01A-11D-A35Z-10	1	21215972	86133568	62	48991	525	2									
PPP2R5E	5529	hgsc.bcm.edu	37	14	63860645	63860645	+	Splice_Site	SNP	T	T	A			TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr14:63860645T>A	ENST00000337537.3	-	8	1344	c.742A>T	c.(742-744)Att>Ttt	p.I248F	PPP2R5E_ENST00000553266.1_5'UTR|PPP2R5E_ENST00000422769.2_Splice_Site_p.I172F|PPP2R5E_ENST00000555899.1_Splice_Site_p.I248F	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	248					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)		CCATTGATAATACTAGGGAGA	0.353																																																0													69	68	68					14																	63860645		2203	4300	6503	SO:0001630	splice_region_variant	5529			L76703	CCDS9758.1, CCDS61467.1, CCDS61468.1	14q23.2	2010-06-18	2007-01-22		ENSG00000154001	ENSG00000154001		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9313	protein-coding gene	gene with protein product		601647	"protein phosphatase 2, regulatory subunit B (B56), epsilon isoform"			7592815	Standard	NM_006246		Approved		uc001xgd.1	Q16537	OTTHUMG00000140341	ENST00000337537.3:c.741-1A>T	chr14.hg19:g.63860645T>A			A4FU37|B7ZAW5|B7ZKK8|B7ZKK9|J3KQN6|Q52LW4	Missense_Mutation	SNP	ENST00000337537.3	hg19	CCDS9758.1	.	.	.	.	.	.	.	.	.	.	T	29.3	4.990233	0.93106	.	.	ENSG00000154001	ENST00000337537;ENST00000555899;ENST00000422769	.	.	.	5.66	5.66	0.87406	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.88070	0.6338	H	0.97186	3.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92017	0.5623	9	0.87932	D	0	-10.0146	16.1852	0.81946	0.0:0.0:0.0:1.0	.	248;248	B7ZKK9;Q16537	.;2A5E_HUMAN	F	248;248;172	.	ENSP00000337641:I248F	I	-	1	0	PPP2R5E	62930398	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	7.936000	0.87665	2.277000	0.76020	0.528000	0.53228	ATT		0.353	PPP2R5E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276973.1	NM_006246	Missense_Mutation	A	63860645	T	A	63860645	5	1	816	1	0	0	0	0	0	0	1	0	12401	1420	49	5	689	5	PPP2R5E	14	63860645	Splice_Site	SNP	T	TCGA-Y8-A894-01A-11D-A35Z-10	42644673	63860645	43488895	63	48992											
DDX24	57062	hgsc.bcm.edu	37	14	94545834	94545834	+	Silent	SNP	C	C	T			TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr14:94545834C>T	ENST00000330836.5	-	2	386	c.255G>A	c.(253-255)gaG>gaA	p.E85E	IFI27L1_ENST00000554544.1_5'Flank|IFI27L1_ENST00000555523.1_5'Flank|DDX24_ENST00000544005.1_Intron|IFI27L1_ENST00000393115.3_5'Flank|IFI27L1_ENST00000553664.1_5'Flank|DDX24_ENST00000555054.1_Silent_p.E42E|IFI27L1_ENST00000556381.1_5'Flank|IFI27L1_ENST00000557066.1_5'Flank|IFI27L1_ENST00000557218.1_5'Flank	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	85	Poly-Glu.				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)		CCTCCTCCTCCTCTTCTTCTG	0.438																																																0													165	161	163					14																	94545834		2203	4300	6503	SO:0001819	synonymous_variant	57062			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.255G>A	chr14.hg19:g.94545834C>T			E7EMJ4|Q4V9L5	Silent	SNP	ENST00000330836.5	hg19	CCDS9918.1																																																																																				0.438	DDX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412861.1	NM_020414		T	94545834	C	T	94545834	2	4	816	1	0	0	0	0	0	0	0	1	4353	680	24	2		2	DDX24	14	94545834	Silent	SNP	C	TCGA-Y8-A894-01A-11D-A35Z-10	30685189	94545834	12803706	64	48993											
DICER1	23405	hgsc.bcm.edu	37	14	95590600	95590600	+	Missense_Mutation	SNP	G	G	C			TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr14:95590600G>C	ENST00000526495.1	-	10	1600	c.1309C>G	c.(1309-1311)Cct>Gct	p.P437A	DICER1_ENST00000343455.3_Missense_Mutation_p.P437A|DICER1_ENST00000393063.1_Missense_Mutation_p.P437A|DICER1_ENST00000541352.1_Missense_Mutation_p.P437A|DICER1_ENST00000527414.1_Missense_Mutation_p.P437A			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	437	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Required for interaction with PRKRA and TARBP2.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TTGGTAAAAGGAGAAGGAAAA	0.353			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"dicer 1, ribonuclease type III "		"E, M, O"	0													80	85	83					14																	95590600		2203	4300	6503	SO:0001583	missense	23405	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"dicer 1, double-stranded RNA-specific endoribonuclease"	606241	"Dicer1, Dcr-1 homolog (Drosophila)", "multinodular goitre 1"	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.1309C>G	chr14.hg19:g.95590600G>C	ENSP00000437256:p.Pro437Ala		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	hg19	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.568453	0.86439	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000541352	T;T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56;-0.56	5.41	5.41	0.78517	Helicase, C-terminal (1);	0.219441	0.48286	D	0.000182	T	0.63534	0.2519	N	0.19112	0.55	0.80722	D	1	P	0.39717	0.684	P	0.45037	0.467	T	0.58595	-0.7609	10	0.13853	T	0.58	-14.9718	19.1956	0.93686	0.0:0.0:1.0:0.0	.	437	Q9UPY3	DICER_HUMAN	A	437	ENSP00000343745:P437A;ENSP00000437256:P437A;ENSP00000376783:P437A;ENSP00000435681:P437A;ENSP00000444719:P437A	ENSP00000343745:P437A	P	-	1	0	DICER1	94660353	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.187000	0.94912	2.524000	0.85096	0.591000	0.81541	CCT		0.353	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			C	95590600	G	C	95590600	3	2	816	1	0	0	0	0	1	0	0	0	4523	1174	41	4	4539	4	DICER1	14	95590600	Missense_Mutation	SNP	G	TCGA-Y8-A894-01A-11D-A35Z-10	1044766	95590600	11758940	65	48994											
MYO5A	4644	hgsc.bcm.edu	37	15	52615613	52615613	+	Missense_Mutation	SNP	G	G	C			TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr15:52615613G>C	ENST00000399231.3	-	36	4907	c.4664C>G	c.(4663-4665)tCc>tGc	p.S1555C	MYO5A_ENST00000358212.6_Missense_Mutation_p.S1580C|MYO5A_ENST00000356338.6_Missense_Mutation_p.S1528C|MYO5A_ENST00000553916.1_Missense_Mutation_p.S1553C|MYO5A_ENST00000399233.2_Missense_Mutation_p.S1552C	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1555	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				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)		GAGCCAGAAGGAGACGGTTTC	0.373																																																0													130	120	123					15																	52615613		1837	4087	5924	SO:0001583	missense	4644				CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"Myosins / Myosin superfamily : Class V"	7602	protein-coding gene	gene with protein product	"myosin, heavy polypeptide kinase", "myosin heavy chain 12", "myoxin", "myosin V"	160777	"myosin VA (heavy polypeptide 12, myoxin)"	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.4664C>G	chr15.hg19:g.52615613G>C	ENSP00000382177:p.Ser1555Cys		A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	ENST00000399231.3	hg19	CCDS42037.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.538273	0.85917	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	T;T;T;T;T	0.25414	1.8;1.8;1.8;1.8;1.8	6.17	6.17	0.99709	Dilute (1);	0.000000	0.85682	D	0.000000	T	0.54334	0.1852	M	0.78637	2.42	0.80722	D	1	D;D;D	0.63880	0.993;0.967;0.992	D;P;P	0.64687	0.928;0.806;0.863	T	0.48502	-0.9030	10	0.51188	T	0.08	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	285;1555;1528	B5LY56;Q9Y4I1;Q9Y4I1-2	.;MYO5A_HUMAN;.	C	1555;1062;1552;1528;1580;1158;1553	ENSP00000382177:S1555C;ENSP00000382179:S1552C;ENSP00000348693:S1528C;ENSP00000350945:S1580C;ENSP00000451109:S1553C	ENSP00000348693:S1528C	S	-	2	0	MYO5A	50402905	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.876000	0.87215	2.941000	0.99782	0.655000	0.94253	TCC		0.373	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		C	52615613	G	C	52615613	3	2	816	1	0	0	0	0	1	0	0	0	10080	1174	41	4	927	4	MYO5A	15	52615613	Missense_Mutation	SNP	G	TCGA-Y8-A894-01A-11D-A35Z-10		52615613	49915779	66	48995											
CGNL1	84952	hgsc.bcm.edu	37	15	57730578	57730578	+	Silent	SNP	T	T	C			TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr15:57730578T>C	ENST00000281282.5	+	2	459	c.381T>C	c.(379-381)aaT>aaC	p.N127N		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	127	Head.					myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AGGGCAAGAATGGAGTTCTAG	0.493																																																0													50	50	50					15																	57730578		2192	4292	6484	SO:0001819	synonymous_variant	84952			AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.381T>C	chr15.hg19:g.57730578T>C			Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Silent	SNP	ENST00000281282.5	hg19	CCDS10161.1																																																																																				0.493	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2	NM_032866		C	57730578	T	C	57730578	2	2	816	1	0	0	0	0	0	0	0	1	3306	1461	51	3		3	CGNL1	15	57730578	Silent	SNP	T	TCGA-Y8-A894-01A-11D-A35Z-10	5114965	57730578	44800814	67	48996											
LRRC49	54839	hgsc.bcm.edu	37	15	71193333	71193333	+	Missense_Mutation	SNP	T	T	C			TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr15:71193333T>C	ENST00000260382.5	+	4	526	c.266T>C	c.(265-267)aTt>aCt	p.I89T	LRRC49_ENST00000560691.1_5'UTR|LRRC49_ENST00000544974.2_Missense_Mutation_p.I79T|LRRC49_ENST00000560369.1_Missense_Mutation_p.I94T|LRRC49_ENST00000443425.2_Missense_Mutation_p.I45T|LRRC49_ENST00000436542.2_3'UTR	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	89						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						GAAGAGAAAATTCTTTACTCA	0.318																																																0													79	82	81					15																	71193333		2199	4295	6494	SO:0001583	missense	54839				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.266T>C	chr15.hg19:g.71193333T>C	ENSP00000260382:p.Ile89Thr		B3KVX1|B7Z366|F5H1J4|G5E9T5|H0YLN4|Q9NXM6	Missense_Mutation	SNP	ENST00000260382.5	hg19	CCDS32282.1	.	.	.	.	.	.	.	.	.	.	T	7.971	0.749171	0.15710	.	.	ENSG00000137821	ENST00000544974;ENST00000260382;ENST00000443425;ENST00000436542	T;T;T	0.33865	1.4;1.93;1.39	5.86	2.15	0.27550	.	0.459688	0.21102	N	0.080154	T	0.17704	0.0425	N	0.14661	0.345	0.25035	N	0.99125	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.06405	0.001;0.001;0.002;0.001;0.001	T	0.18618	-1.0331	10	0.24483	T	0.36	-4.7976	5.7854	0.18331	0.0:0.0863:0.3278:0.5859	.	94;61;45;89;79	B7Z366;G5E9Q1;G5E9T5;Q8IUZ0;F5H1J4	.;.;.;LRC49_HUMAN;.	T	79;89;45;61	ENSP00000439600:I79T;ENSP00000260382:I89T;ENSP00000414065:I45T	ENSP00000260382:I89T	I	+	2	0	LRRC49	68980387	0.991000	0.36638	0.985000	0.45067	0.999000	0.98932	0.715000	0.25822	0.170000	0.19704	0.528000	0.53228	ATT		0.318	LRRC49-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417209.3	NM_017691		C	71193333	T	C	71193333	3	2	816	1	0	0	0	0	1	0	0	0	9008	1493	52	3	280	3	LRRC49	15	71193333	Missense_Mutation	SNP	T	TCGA-Y8-A894-01A-11D-A35Z-10	13462755	71193333	31338059	68	48997											
ARIH1	25820	hgsc.bcm.edu	37	15	72874471	72874471	+	Missense_Mutation	SNP	G	G	C			TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr15:72874471G>C	ENST00000379887.4	+	13	1846	c.1532G>C	c.(1531-1533)cGa>cCa	p.R511P	ARIH1_ENST00000562891.1_3'UTR	NM_005744.3	NP_005735.2	Q9Y4X5	ARI1_HUMAN	ariadne RBR E3 ubiquitin protein ligase 1	511					cytokine-mediated signaling pathway (GO:0019221)|protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ubiquitin ligase complex (GO:0000151)	small conjugating protein ligase activity (GO:0019787)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R511Q(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	14						TACCTTGAACGAGATATTTCC	0.363																																																1	Substitution - Missense(1)	skin(1)											102	105	104					15																	72874471		2198	4297	6495	SO:0001583	missense	25820			AF072832	CCDS10244.1	15q24	2013-10-03	2013-10-03		ENSG00000166233	ENSG00000166233			689	protein-coding gene	gene with protein product	"ariadne, Drosophila, homolog of"	605624	"ariadne (Drosophila) homolog, ubiquitin-conjugating enzyme E2-binding protein, 1", "ariadne homolog, ubiquitin-conjugating enzyme E2 binding protein, 1 (Drosophila)"			10521492, 24058416	Standard	NM_005744		Approved	HARI, HHARI, UBCH7BP, ARI	uc002aut.4	Q9Y4X5	OTTHUMG00000133474	ENST00000379887.4:c.1532G>C	chr15.hg19:g.72874471G>C	ENSP00000369217:p.Arg511Pro		B2R6U3|O76026|Q9H3T6|Q9UEN0|Q9UP39	Missense_Mutation	SNP	ENST00000379887.4	hg19	CCDS10244.1	.	.	.	.	.	.	.	.	.	.	G	32	5.162819	0.94727	.	.	ENSG00000166233	ENST00000379887;ENST00000299305	D	0.87491	-2.26	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.95494	0.8536	M	0.93763	3.455	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.96236	0.9172	10	0.87932	D	0	.	19.5444	0.95285	0.0:0.0:1.0:0.0	.	511	Q9Y4X5	ARI1_HUMAN	P	511;481	ENSP00000369217:R511P	ENSP00000299305:R481P	R	+	2	0	ARIH1	70661525	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.356000	0.97091	2.621000	0.88768	0.644000	0.83932	CGA		0.363	ARIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257350.1	NM_005744		C	72874471	G	C	72874471	3	2	816	1	0	0	0	0	1	0	0	0	923	1058	37	4	1582	4	ARIH1	15	72874471	Missense_Mutation	SNP	G	TCGA-Y8-A894-01A-11D-A35Z-10	1681138	72874471	29656921	69	48998											
BLM	641	hgsc.bcm.edu	37	15	91298123	91298123	+	Missense_Mutation	SNP	A	A	G			TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr15:91298123A>G	ENST00000355112.3	+	5	1160	c.1042A>G	c.(1042-1044)Atg>Gtg	p.M348V	BLM_ENST00000560509.1_Missense_Mutation_p.M348V|SNORD18_ENST00000363807.1_RNA	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	348	Necessary for interaction with SPIDR.				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)			ACCTGAGAAAATGAGTATGCA	0.363			"Mis, N, F"			"leukemia, lymphoma, skin squamous cell , other cancers"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																													yes	Rec		Bloom Syndrome	15	15q26.1	641	Bloom Syndrome		"L, E"	0													93	89	91					15																	91298123		2198	4298	6496	SO:0001583	missense	641	Familial Cancer Database		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.1042A>G	chr15.hg19:g.91298123A>G	ENSP00000347232:p.Met348Val		Q52M96	Missense_Mutation	SNP	ENST00000355112.3	hg19	CCDS10363.1	.	.	.	.	.	.	.	.	.	.	A	13.23	2.175834	0.38413	.	.	ENSG00000197299	ENST00000355112;ENST00000536925	T	0.42513	0.97	5.33	0.151	0.14888	.	0.794395	0.11183	N	0.590713	T	0.31327	0.0793	M	0.63428	1.95	0.09310	N	1	B;B	0.22480	0.07;0.07	B;B	0.19148	0.024;0.024	T	0.30387	-0.9980	10	0.22706	T	0.39	-15.1694	1.0454	0.01568	0.5054:0.1741:0.1756:0.145	.	348;348	B2RAN0;P54132	.;BLM_HUMAN	V	348;1	ENSP00000347232:M348V	ENSP00000347232:M348V	M	+	1	0	BLM	89099127	0.808000	0.29022	0.000000	0.03702	0.430000	0.31655	1.450000	0.35134	-0.233000	0.09797	0.374000	0.22700	ATG		0.363	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313495.1			G	91298123	A	G	91298123	3	3	816	1	0	0	0	0	1	0	0	0	1445	101	4	3	1056	3	BLM	15	91298123	Missense_Mutation	SNP	A	TCGA-Y8-A894-01A-11D-A35Z-10	18423652	91298123	11233269	70	48999											
LRRK1	79705	hgsc.bcm.edu	37	15	101589985	101589985	+	Frame_Shift_Del	DEL	C	C	-			TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr15:101589985delC	ENST00000388948.3	+	23	3795	c.3436delC	c.(3436-3438)cccfs	p.P1146fs	RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000284395.5_Frame_Shift_Del_p.P1143fs|RP11-505E24.3_ENST00000558979.1_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)			TCAGTGGTTTCCCGGTAAGAG	0.473																																																0													67	67	67					15																	101589985		1922	4123	6045	SO:0001589	frameshift_variant	79705			AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.3436delC	chr15.hg19:g.101589985delC	ENSP00000373600:p.Pro1146fs			Frame_Shift_Del	DEL	ENST00000388948.3	hg19	CCDS42086.1																																																																																				0.473	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		-	101589985	C	-	101589985	7	5	816	1	0	1	0	1	0	0	0	0	9034	855	30	0	3522	0	LRRK1	15	101589985	Frame_Shift_Del	DEL	C	TCGA-Y8-A894-01A-11D-A35Z-10	10291862	101589985	941407	71	49000											
SNRPA1	6627	hgsc.bcm.edu	37	15	101833253	101833253	+	Silent	SNP	C	C	T			TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr15:101833253C>T	ENST00000254193.6	-	2	279	c.207G>A	c.(205-207)ttG>ttA	p.L69L	RP11-299G20.2_ENST00000558838.1_RNA|SNRPA1_ENST00000560856.1_5'UTR	NM_003090.2	NP_003081.2	P09661	RU2A_HUMAN	small nuclear ribonucleoprotein polypeptide A'	69					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U2 snRNP (GO:0005686)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGTTCACTAACAATGTTTTCA	0.383																																																0													86	79	81					15																	101833253		2203	4300	6503	SO:0001819	synonymous_variant	6627			AJ130971	CCDS10391.1	15q26.3	2011-10-11			ENSG00000131876	ENSG00000131876			11152	protein-coding gene	gene with protein product		603521				2928112	Standard	NM_003090		Approved	Lea1	uc002bww.3	P09661	OTTHUMG00000149871	ENST00000254193.6:c.207G>A	chr15.hg19:g.101833253C>T			B2R5I6|Q8TBD2	Silent	SNP	ENST00000254193.6	hg19	CCDS10391.1																																																																																				0.383	SNRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313621.2	NM_003090		T	101833253	C	T	101833253	2	4	816	1	0	0	0	0	0	0	0	1	14866	477	17	2		2	SNRPA1	15	101833253	Silent	SNP	C	TCGA-Y8-A894-01A-11D-A35Z-10	243268	101833253	698139	72	49001											
AXIN1	8312	hgsc.bcm.edu	37	16	343699	343699	+	Missense_Mutation	SNP	G	G	A			TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr16:343699G>A	ENST00000262320.3	-	8	2346	c.1975C>T	c.(1975-1977)Cca>Tca	p.P659S	AXIN1_ENST00000354866.3_Missense_Mutation_p.P659S	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	659	Interaction with PPP2CA.|Interaction with RNF111.				activation of JUN kinase activity (GO:0007257)|activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|axial mesoderm formation (GO:0048320)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060823)|cell death (GO:0008219)|cellular protein complex assembly (GO:0043623)|cellular response to organic cyclic compound (GO:0071407)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|dorsal/ventral axis specification (GO:0009950)|embryonic eye morphogenesis (GO:0048048)|embryonic skeletal joint morphogenesis (GO:0060272)|forebrain anterior/posterior pattern specification (GO:0021797)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein metabolic process (GO:0051248)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|olfactory placode formation (GO:0030910)|optic placode formation (GO:0001743)|positive regulation of GTPase activity (GO:0043547)|positive regulation of JNK cascade (GO:0046330)|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 catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|post-anal tail morphogenesis (GO:0036342)|protein catabolic process (GO:0030163)|protein homooligomerization (GO:0051260)|protein polyubiquitination (GO:0000209)|regulation of catenin import into nucleus (GO:0035412)|sensory perception of sound (GO:0007605)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)|Wnt-activated signaling pathway involved in forebrain neuron fate commitment (GO:0021881)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|ubiquitin protein ligase binding (GO:0031625)			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				TGGGGCTGTGGCTTCCTCGTC	0.622																																																0													96	107	103					16																	343699		2203	4300	6503	SO:0001583	missense	8312			AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	903	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 49"	603816				9230313	Standard	NM_003502		Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.1975C>T	chr16.hg19:g.343699G>A	ENSP00000262320:p.Pro659Ser		Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Missense_Mutation	SNP	ENST00000262320.3	hg19	CCDS10405.1	.	.	.	.	.	.	.	.	.	.	G	3.721	-0.057561	0.07317	.	.	ENSG00000103126	ENST00000262320;ENST00000354866	T;T	0.58060	0.36;0.38	4.17	4.17	0.49024	.	0.581013	0.19003	N	0.125294	T	0.40423	0.1116	L	0.38175	1.15	0.23210	N	0.998116	B;B	0.10296	0.003;0.001	B;B	0.15052	0.012;0.005	T	0.16600	-1.0397	10	0.06757	T	0.87	-2.6259	15.6374	0.76966	0.0:0.0:1.0:0.0	.	659;659	O15169-2;O15169	.;AXIN1_HUMAN	S	659	ENSP00000262320:P659S;ENSP00000346935:P659S	ENSP00000262320:P659S	P	-	1	0	AXIN1	283700	1.000000	0.71417	1.000000	0.80357	0.402000	0.30811	3.455000	0.52993	2.185000	0.69588	0.478000	0.44815	CCA		0.622	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139441.3			A	343699	G	A	343699	3	1	816	1	0	0	0	0	1	0	0	0	1236	1203	42	2	629	2	AXIN1	16	343699	Missense_Mutation	SNP	G	TCGA-Y8-A894-01A-11D-A35Z-10		343699	90011054	73	49002											
TUSC5	286753	hgsc.bcm.edu	37	17	1183315	1183315	+	Missense_Mutation	SNP	C	C	A			TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr17:1183315C>A	ENST00000333813.3	+	1	359	c.20C>A	c.(19-21)tCc>tAc	p.S7Y		NM_172367.2	NP_758955.2	Q8IXB3	TUSC5_HUMAN	tumor suppressor candidate 5	7					response to biotic stimulus (GO:0009607)	integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCGGTGCAGTCCGAGTTTCCT	0.657																																																0													33	38	36					17																	1183315		1975	4144	6119	SO:0001583	missense	286753			AB090231	CCDS42225.1	17p13.3	2009-10-16			ENSG00000184811	ENSG00000184811			29592	protein-coding gene	gene with protein product	"located at seventeen p thirteen point three 1", "interferon induced transmembrane protein domain containing 3"	612211				12660825	Standard	NM_172367		Approved	LOST1, IFITMD3	uc002fsi.1	Q8IXB3	OTTHUMG00000132196	ENST00000333813.3:c.20C>A	chr17.hg19:g.1183315C>A	ENSP00000329548:p.Ser7Tyr		A6NMK4	Missense_Mutation	SNP	ENST00000333813.3	hg19	CCDS42225.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.956707	0.53293	.	.	ENSG00000184811	ENST00000333813	T	0.72394	-0.65	5.22	4.24	0.50183	.	0.684498	0.13729	U	0.366858	T	0.50394	0.1613	N	0.14661	0.345	0.23401	N	0.997759	B	0.31519	0.327	B	0.24541	0.054	T	0.47661	-0.9100	10	0.87932	D	0	-2.8288	8.7819	0.34795	0.0:0.8988:0.0:0.1012	.	7	Q8IXB3	TUSC5_HUMAN	Y	7	ENSP00000329548:S7Y	ENSP00000329548:S7Y	S	+	2	0	TUSC5	1130065	0.041000	0.20044	1.000000	0.80357	0.013000	0.08279	0.831000	0.27476	2.475000	0.83589	0.537000	0.68136	TCC		0.657	TUSC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255249.1	NM_172367		A	1183315	C	A	1183315	3	1	816	1	0	0	0	0	1	0	0	0	16784	855	30	4	22	4	TUSC5	17	1183315	Missense_Mutation	SNP	C	TCGA-Y8-A894-01A-11D-A35Z-10		1183315	80011895	74	49003											
KIAA0664	23277	hgsc.bcm.edu	37	17	2599551	2599552	+	Splice_Site	DEL	CC	CC	-			TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	CC	CC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr17:2599551_2599552delCC	ENST00000570628.2	-	13	2280_2281	c.2175_2176delGG	c.(2173-2178)ggggtt>ggtt	p.V726fs	CLUH_ENST00000435359.1_Splice_Site_p.V726fs|CLUH_ENST00000538975.1_Splice_Site_p.V726fs			O75153	CLU_HUMAN	clustered mitochondria (cluA/CLU1) homolog	726					intracellular distribution of mitochondria (GO:0048312)	cytoplasm (GO:0005737)											GGGAAACGAACCCCTGGAGGAG	0.634																																																0																																										SO:0001630	splice_region_variant	23277			AB014564	CCDS45572.1	17p13.3	2012-12-18	2012-11-30	2012-11-30	ENSG00000132361	ENSG00000132361			29094	protein-coding gene	gene with protein product			"KIAA0664"	KIAA0664			Standard	XM_005256567		Approved	CLU1	uc002fuy.1	O75153	OTTHUMG00000177575	ENST00000570628.2:c.2174-1GG>-	chr17.hg19:g.2599553_2599554delCC			Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979	Frame_Shift_Del	DEL	ENST00000570628.2	hg19	CCDS45572.1																																																																																				0.634	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437807.2	NM_015229	Frame_Shift_Del	-	2599552	CC	-	2599551	8	5	816	1	0	1	0	1	0	0	1	0	8191	507	18	0	1809	0	KIAA0664	17	2599551	Splice_Site	DEL	CC	TCGA-Y8-A894-01A-11D-A35Z-10	1416236	2599551	78595659	75	49004											
MYH8	4626	hgsc.bcm.edu	37	17	10315977	10315977	+	Missense_Mutation	SNP	T	T	A			TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr17:10315977T>A	ENST00000403437.2	-	13	1310	c.1216A>T	c.(1216-1218)Agg>Tgg	p.R406W	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	406	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						ACCTTGACCCTAGGGTAGCAG	0.507									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																																							0													317	277	290					17																	10315977		2203	4300	6503	SO:0001583	missense	4626	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"Myosins / Myosin superfamily : Class II"	7578	protein-coding gene	gene with protein product		160741	"myosin, heavy polypeptide 8, skeletal muscle, perinatal"			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.1216A>T	chr17.hg19:g.10315977T>A	ENSP00000384330:p.Arg406Trp		Q14910	Missense_Mutation	SNP	ENST00000403437.2	hg19	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	T	17.44	3.389055	0.61956	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.88509	-2.39	4.6	3.51	0.40186	Myosin head, motor domain (2);	0.000000	0.43919	U	0.000513	D	0.96371	0.8816	H	0.98629	4.285	0.50171	D	0.999856	D	0.89917	1.0	D	0.97110	1.0	D	0.96185	0.9133	10	0.87932	D	0	.	11.3654	0.49668	0.0:0.0:0.3067:0.6933	.	406	P13535	MYH8_HUMAN	W	406	ENSP00000384330:R406W	ENSP00000252173:R406W	R	-	1	2	MYH8	10256702	0.997000	0.39634	1.000000	0.80357	0.749000	0.42624	1.754000	0.38369	0.789000	0.33779	-0.299000	0.09455	AGG		0.507	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		A	10315977	T	A	10315977	3	1	816	1	0	0	0	0	1	0	0	0	10043	1521	53	5	4709	5	MYH8	17	10315977	Missense_Mutation	SNP	T	TCGA-Y8-A894-01A-11D-A35Z-10	7716426	10315977	70879233	76	49005											
ERBB2	2064	hgsc.bcm.edu	37	17	37880219	37880220	+	Missense_Mutation	DNP	TT	TT	CC	rs121913470|rs121913469		TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr17:37880219_37880220TT>CC	ENST00000269571.5	+	19	2422_2423	c.2263_2264TT>CC	c.(2263-2265)TTg>CCg	p.L755P	ERBB2_ENST00000584450.1_Missense_Mutation_p.L755P|ERBB2_ENST00000540147.1_Missense_Mutation_p.L725P|MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000584601.1_Missense_Mutation_p.L725P|ERBB2_ENST00000406381.2_Missense_Mutation_p.L725P|ERBB2_ENST00000541774.1_Missense_Mutation_p.L740P|ERBB2_ENST00000445658.2_Missense_Mutation_p.L479P			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	755	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		L -> P (in a lung adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:15457249}.		axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)	p.L755S(10)|p.L755P(2)|p.L755_S760>A(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	CATCAAAGTGTTGAGGGAAAAC	0.53	L755S(LN229_CENTRAL_NERVOUS_SYSTEM)	1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)																													Dom	yes		17	17q21.1	2064	"v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"		E	13	Substitution - Missense(12)|Complex - insertion inframe(1)	breast(7)|lung(3)|stomach(2)|large_intestine(1)																																								SO:0001583	missense	2064			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"CD molecules"	3430	protein-coding gene	gene with protein product	"neuro/glioblastoma derived oncogene homolog"	164870	"v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		Exception_encountered	chr17.hg19:g.37880219_37880220delinsCC	ENSP00000269571:p.Leu755Pro		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Silent|Missense_Mutation	SNP	ENST00000269571.5	hg19	CCDS32642.1																																																																																				0.53	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			CC	37880220	TT	CC	37880219	3	2	816	1	0	0	0	0	1	0	0	0	5208	1722	60	3	2337	3	ERBB2	17	37880219	Missense_Mutation	DNP	TT	TCGA-Y8-A894-01A-11D-A35Z-10	27564242	37880219	43314991	77	49006											
RHBDF2	79651	hgsc.bcm.edu	37	17	74473013	74473013	+	Silent	SNP	C	C	T			TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr17:74473013C>T	ENST00000313080.4	-	9	1374	c.1101G>A	c.(1099-1101)cgG>cgA	p.R367R	RHBDF2_ENST00000592378.1_5'Flank|RHBDF2_ENST00000591885.1_Silent_p.R338R|RHBDF2_ENST00000389760.4_Silent_p.R338R	NM_024599.5	NP_078875.4	Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	367					negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						GGCCGTAGTGCCGCTTCTTCC	0.667																																																0													37	48	44					17																	74473013		2202	4300	6502	SO:0001819	synonymous_variant	79651			BC016034	CCDS32743.1, CCDS32744.1	17q25.3	2014-09-17	2006-02-22	2006-02-22		ENSG00000129667			20788	protein-coding gene	gene with protein product		614404	"rhomboid, veinlet-like 6 (Drosophila)", "tylosis with oesophageal cancer"	RHBDL6, TOC		12838346, 22265016	Standard	NM_024599		Approved	FLJ22341, RHBDL5, TOCG	uc002jrq.2	Q6PJF5		ENST00000313080.4:c.1101G>A	chr17.hg19:g.74473013C>T			A6NEM3|A8K801|Q5U607|Q5YGQ8|Q9H6E9	Silent	SNP	ENST00000313080.4	hg19	CCDS32743.1																																																																																				0.667	RHBDF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450134.1	NM_024599		T	74473013	C	T	74473013	2	4	816	1	0	0	0	0	0	0	0	1	13326	726	26	2		2	RHBDF2	17	74473013	Silent	SNP	C	TCGA-Y8-A894-01A-11D-A35Z-10	36592794	74473013	6722197	78	49007											
ZNF814	730051	hgsc.bcm.edu	37	19	58385790	58385790	+	Missense_Mutation	SNP	G	G	T	rs111727691		TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr19:58385790G>T	ENST00000435989.2	-	3	1202	c.968C>A	c.(967-969)cCt>cAt	p.P323H	ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	323					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ACATTCATAAGGTCTTTTCCC	0.358																																																0													15	12	13					19																	58385790		688	1563	2251	SO:0001583	missense	730051				CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.968C>A	chr19.hg19:g.58385790G>T	ENSP00000410545:p.Pro323His		A6NF35	Missense_Mutation	SNP	ENST00000435989.2	hg19	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	8.139	0.784825	0.16189	.	.	ENSG00000204514	ENST00000435989	T	0.29397	1.57	2.27	1.18	0.20946	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.57080	0.2029	M	0.90019	3.08	0.20764	N	0.999853	D	0.89917	1.0	D	0.67231	0.95	T	0.46247	-0.9205	9	0.66056	D	0.02	.	9.258	0.37595	0.0:0.0:0.7811:0.2189	.	323	B7Z6K7	ZN814_HUMAN	H	323	ENSP00000410545:P323H	ENSP00000410545:P323H	P	-	2	0	ZNF814	63077602	0.000000	0.05858	0.028000	0.17463	0.016000	0.09150	-0.439000	0.06897	0.330000	0.23485	-1.407000	0.01130	CCT		0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		T	58385790	G	T	58385790	3	4	816	1	0	0	0	0	1	0	0	0	18181	1000	35	4	1603	4	ZNF814	19	58385790	Missense_Mutation	SNP	G	TCGA-Y8-A894-01A-11D-A35Z-10		58385790	743193	79	49008	526	2									
ZNF814	730051	hgsc.bcm.edu	37	19	58385793	58385793	+	Missense_Mutation	SNP	C	C	T	rs113623532		TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr19:58385793C>T	ENST00000435989.2	-	3	1199	c.965G>A	c.(964-966)aGa>aAa	p.R322K	ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	322					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						TTCATAAGGTCTTTTCCCAGT	0.358																																																0													15	12	13					19																	58385793		687	1562	2249	SO:0001583	missense	730051				CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.965G>A	chr19.hg19:g.58385793C>T	ENSP00000410545:p.Arg322Lys		A6NF35	Missense_Mutation	SNP	ENST00000435989.2	hg19	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	0.023	-1.395361	0.01175	.	.	ENSG00000204514	ENST00000435989	T	0.12361	2.69	2.27	9.47E-4	0.14044	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03608	0.0103	N	0.02225	-0.63	0.09310	N	0.999999	B	0.29301	0.241	B	0.28916	0.096	T	0.40534	-0.9558	9	0.02654	T	1	.	4.6969	0.12808	0.0:0.4166:0.0:0.5834	.	322	B7Z6K7	ZN814_HUMAN	K	322	ENSP00000410545:R322K	ENSP00000410545:R322K	R	-	2	0	ZNF814	63077605	0.000000	0.05858	0.024000	0.17045	0.009000	0.06853	-1.883000	0.01623	0.331000	0.23511	-1.381000	0.01174	AGA		0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		T	58385793	C	T	58385793	3	4	816	1	0	0	0	0	1	0	0	0	18181	913	32	2	1606	2	ZNF814	19	58385793	Missense_Mutation	SNP	C	TCGA-Y8-A894-01A-11D-A35Z-10	3	58385793	743190	80	49009	526	2									
ZNF512B	57473	hgsc.bcm.edu	37	20	62595674	62595674	+	Splice_Site	SNP	T	T	C			TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr20:62595674T>C	ENST00000450537.1	-	7	1392	c.1332A>G	c.(1330-1332)aaA>aaG	p.K444K	ZNF512B_ENST00000369888.1_Splice_Site_p.K444K|ZNF512B_ENST00000217130.3_Splice_Site_p.K444K			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	444					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)					GGGTCTTACCTTTGAGCCCAA	0.587																																																0													161	176	171					20																	62595674		2203	4300	6503	SO:0001630	splice_region_variant	57473			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.1333+1A>G	chr20.hg19:g.62595674T>C			Q08AK9|Q9ULM4	Silent	SNP	ENST00000450537.1	hg19	CCDS13548.1																																																																																				0.587	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713	Silent	C	62595674	T	C	62595674	5	2	816	1	0	0	0	0	0	0	1	0	17962	1623	56	3	1390	3	ZNF512B	20	62595674	Splice_Site	SNP	T	TCGA-Y8-A894-01A-11D-A35Z-10		62595674	429846	81	49010											
DYRK1A	1859	hgsc.bcm.edu	37	21	38878548	38878548	+	Intron	SNP	T	T	A			TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr21:38878548T>A	ENST00000398960.2	+	10	1746				DYRK1A_ENST00000451934.1_Missense_Mutation_p.L565M|DYRK1A_ENST00000455387.2_Intron|DYRK1A_ENST00000339659.4_Intron|DYRK1A_ENST00000398956.2_Intron|DYRK1A_ENST00000321219.8_Intron|DYRK1A_ENST00000338785.3_Missense_Mutation_p.L565M	NM_001396.3|NM_130438.2	NP_001387.2|NP_569122.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A						circadian rhythm (GO:0007623)|mitotic cell cycle (GO:0000278)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|nervous system development (GO:0007399)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of protein deacetylation (GO:0090312)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|tau protein binding (GO:0048156)			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CGTGGTTCATTTGCTTGTGTC	0.567																																					Melanoma(114;464 1602 31203 43785 45765)											0													89	81	83					21																	38878548		2203	4300	6503	SO:0001627	intron_variant	1859			U52373	CCDS13653.1, CCDS13654.1, CCDS42925.1, CCDS42926.1	21q22.13	2010-04-21			ENSG00000157540	ENSG00000157540			3091	protein-coding gene	gene with protein product		600855		DYRK1, DYRK, MNBH		9284911	Standard	NM_130436		Approved		uc002ywk.3	Q13627	OTTHUMG00000086657	ENST00000398960.2:c.1671+22T>A	chr21.hg19:g.38878548T>A			O60769|Q92582|Q92810|Q9UNM5	Missense_Mutation	SNP	ENST00000398960.2	hg19	CCDS42925.1	.	.	.	.	.	.	.	.	.	.	T	8.552	0.875746	0.17395	.	.	ENSG00000157540	ENST00000338785;ENST00000451934	T;T	0.59502	0.26;0.26	1.61	-1.09	0.09904	.	.	.	.	.	T	0.57799	0.2078	.	.	.	0.09310	N	1	P	0.47106	0.89	P	0.57425	0.82	T	0.48198	-0.9056	8	0.34782	T	0.22	.	2.9833	0.05960	0.0:0.1875:0.2532:0.5593	.	565	Q13627-5	.	M	565	ENSP00000342690:L565M;ENSP00000416089:L565M	ENSP00000342690:L565M	L	+	1	2	DYRK1A	37800418	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.375000	0.07475	-0.286000	0.09076	0.477000	0.44152	TTG		0.567	DYRK1A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194804.1	NM_001396		A	38878548	T	A	38878548	1	1	816	0	1	0	0	0	0	0	0	0	4856	1838	64	5		5	DYRK1A	21	38878548	Intron	SNP	T	TCGA-Y8-A894-01A-11D-A35Z-10		38878548	9251347	82	49011											
GGT5	2687	hgsc.bcm.edu	37	22	24622177	24622177	+	Missense_Mutation	SNP	C	C	T	rs372349468		TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr22:24622177C>T	ENST00000327365.4	-	8	1512	c.1096G>A	c.(1096-1098)Gat>Aat	p.D366N	GGT5_ENST00000418439.2_Missense_Mutation_p.D289N|GGT5_ENST00000263112.7_Missense_Mutation_p.D334N|GGT5_ENST00000398292.3_Missense_Mutation_p.D366N	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	366					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						CCCCGGCCATCGATCTGTTGG	0.697																																																0								C	ASN/ASP,ASN/ASP,ASN/ASP	0,4406		0,0,2203	31	34	33		1096,1000,1096	1.2	0.1	22		33	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,missense	GGT5	NM_001099781.1,NM_001099782.1,NM_004121.2	23,23,23	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	366/588,334/555,366/587	24622177	1,13003	2203	4299	6502	SO:0001583	missense	2687			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.1096G>A	chr22.hg19:g.24622177C>T	ENSP00000330080:p.Asp366Asn		Q53XM9|Q6GMP0|Q96FC1|Q9UFM5	Missense_Mutation	SNP	ENST00000327365.4	hg19	CCDS13825.1	.	.	.	.	.	.	.	.	.	.	C	1.035	-0.680699	0.03353	0.0	1.16E-4	ENSG00000099998	ENST00000327365;ENST00000263112;ENST00000438024;ENST00000398292;ENST00000418439	T;T;T;T	0.23552	1.9;1.9;1.9;1.9	4.51	1.16	0.20824	.	0.478235	0.23454	N	0.048014	T	0.16938	0.0407	L	0.37466	1.105	0.09310	N	1	B;B;B;B;B	0.29766	0.256;0.0;0.005;0.001;0.005	B;B;B;B;B	0.29524	0.103;0.002;0.013;0.005;0.013	T	0.14615	-1.0466	10	0.35671	T	0.21	-24.4893	7.3329	0.26592	0.0:0.6111:0.0:0.3889	.	289;334;366;366;366	E7EUG3;P36269-2;Q53XM9;Q6GMP0;P36269	.;.;.;.;GGT5_HUMAN	N	366;334;281;366;289	ENSP00000330080:D366N;ENSP00000263112:D334N;ENSP00000381340:D366N;ENSP00000392146:D289N	ENSP00000263112:D334N	D	-	1	0	GGT5	22952177	0.044000	0.20184	0.083000	0.20561	0.267000	0.26476	0.520000	0.22878	0.480000	0.27534	-0.440000	0.05779	GAT		0.697	GGT5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320119.1	NM_004121		T	24622177	C	T	24622177	3	4	816	1	0	0	0	0	1	0	0	0	6364	884	31	1	687	1	GGT5	22	24622177	Missense_Mutation	SNP	C	TCGA-Y8-A894-01A-11D-A35Z-10		24622177	26682389	83	49012											
INPP5J	27124	hgsc.bcm.edu	37	22	31529898	31529898	+	Splice_Site	SNP	G	G	T			TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chr22:31529898G>T	ENST00000331075.5	+	13	2563		c.e13-1		INPP5J_ENST00000404390.3_Splice_Site|INPP5J_ENST00000412277.2_Splice_Site|INPP5J_ENST00000405300.1_Splice_Site|INPP5J_ENST00000401755.1_Splice_Site|INPP5J_ENST00000400294.2_Splice_Site|INPP5J_ENST00000402238.1_Splice_Site|INPP5J_ENST00000404453.1_Splice_Site	NM_001284285.1	NP_001271214.1	Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J						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						ATTTCCCCCAGATCTCGCTGC	0.632																																																0													29	33	32					22																	31529898		2138	4236	6374	SO:0001630	splice_region_variant	27124			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.2515-1G>T	chr22.hg19:g.31529898G>T			B3KS54|Q32M61|Q6ZTH6|Q8N902|Q9UDT9	Splice_Site	SNP	ENST00000331075.5	hg19		.	.	.	.	.	.	.	.	.	.	G	11.73	1.726006	0.30593	.	.	ENSG00000185133	ENST00000331075;ENST00000412277;ENST00000400294;ENST00000405300;ENST00000404390;ENST00000402238;ENST00000404453;ENST00000401755	.	.	.	5.54	4.52	0.55395	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2368	0.59974	0.0781:0.0:0.9219:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	INPP5J	29859898	1.000000	0.71417	0.996000	0.52242	0.284000	0.27059	8.400000	0.90200	1.338000	0.45544	0.655000	0.94253	.		0.632	INPP5J-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000321784.1	NM_001002837	Intron	T	31529898	G	T	31529898	5	4	816	1	0	0	0	0	0	0	1	0	7761	956	33	4	1460	4	INPP5J	22	31529898	Splice_Site	SNP	G	TCGA-Y8-A894-01A-11D-A35Z-10	6907721	31529898	19774668	84	49013											
CDKL5	6792	hgsc.bcm.edu	37	X	18598004	18598004	+	Missense_Mutation	SNP	G	G	T			TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chrX:18598004G>T	ENST00000379989.3	+	7	604	c.319G>T	c.(319-321)Gtt>Ttt	p.V107F	CDKL5_ENST00000379996.3_Missense_Mutation_p.V107F	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	107	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)					GCCAAATGGAGTTCCACCTGA	0.348																																																0													104	96	99					X																	18598004		2203	4300	6503	SO:0001583	missense	6792			Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"Cyclin-dependent kinases"	11411	protein-coding gene	gene with protein product		300203	"serine/threonine kinase 9"	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.319G>T	chrX.hg19:g.18598004G>T	ENSP00000369325:p.Val107Phe		G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP	ENST00000379989.3	hg19	CCDS14186.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.812212	0.90707	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.64991	-0.13;-0.13	5.98	5.98	0.97165	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.053035	0.85682	D	0.000000	T	0.54255	0.1847	N	0.00738	-1.235	0.58432	D	0.99999	D	0.76494	0.999	D	0.71184	0.972	T	0.77297	-0.2640	10	0.87932	D	0	-18.1427	19.3864	0.94557	0.0:0.0:1.0:0.0	.	107	O76039	CDKL5_HUMAN	F	107	ENSP00000369332:V107F;ENSP00000369325:V107F	ENSP00000369325:V107F	V	+	1	0	CDKL5	18507925	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.532000	0.85374	0.594000	0.82650	GTT		0.348	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	NM_003159		T	18598004	G	T	18598004	3	4	816	1	0	0	0	0	1	0	0	0	3159	1029	36	4	337	4	CDKL5	23	18598004	Missense_Mutation	SNP	G	TCGA-Y8-A894-01A-11D-A35Z-10		18598004	136672556	85	49014											
YIPF6	286451	hgsc.bcm.edu	37	X	67731818	67731818	+	Splice_Site	SNP	T	T	A			TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chrX:67731818T>A	ENST00000462683.1	+	2	929	c.185T>A	c.(184-186)aTc>aAc	p.I62N	YIPF6_ENST00000374622.2_Intron|YIPF6_ENST00000470730.1_3'UTR	NM_173834.3	NP_776195.2	Q96EC8	YIPF6_HUMAN	Yip1 domain family, member 6	62					intestinal epithelial cell development (GO:0060576)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	7						CGCAATACCATCGTAAGTTAG	0.383																																																0													127	110	116					X																	67731818		2203	4300	6503	SO:0001630	splice_region_variant	286451			BC012469	CCDS14389.1, CCDS56604.1	Xq13.1	2008-02-05			ENSG00000181704	ENSG00000181704		"Yip1 domain family"	28304	protein-coding gene	gene with protein product						12477932	Standard	NM_173834		Approved	MGC21416, FinGER6	uc004dwz.3	Q96EC8	OTTHUMG00000021745	ENST00000462683.1:c.186+1T>A	chrX.hg19:g.67731818T>A			B4E1U7|G5E997|Q5JP08	Missense_Mutation	SNP	ENST00000462683.1	hg19	CCDS14389.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.566668	0.86439	.	.	ENSG00000181704	ENST00000462683	T	0.48836	0.8	5.66	5.66	0.87406	Yip1 domain (1);	0.175871	0.51477	D	0.000083	T	0.70228	0.3200	M	0.86651	2.83	0.80722	D	1	P	0.50528	0.936	P	0.62813	0.907	T	0.75944	-0.3139	10	0.87932	D	0	0.0812	12.7643	0.57383	0.0:0.0:0.0:1.0	.	62	Q96EC8	YIPF6_HUMAN	N	62	ENSP00000417573:I62N	ENSP00000417573:I62N	I	+	2	0	YIPF6	67648543	1.000000	0.71417	0.905000	0.35620	0.893000	0.52053	6.142000	0.71750	1.921000	0.55644	0.427000	0.28365	ATC		0.383	YIPF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057016.1	NM_173834	Missense_Mutation	A	67731818	T	A	67731818	5	1	816	1	0	0	0	0	0	0	1	0	17487	1449	50	5	191	5	YIPF6	23	67731818	Splice_Site	SNP	T	TCGA-Y8-A894-01A-11D-A35Z-10	49133814	67731818	87538742	86	49015											
TEX11	56159	hgsc.bcm.edu	37	X	69844743	69844743	+	Missense_Mutation	SNP	A	A	C			TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chrX:69844743A>C	ENST00000395889.2	-	20	1840	c.1685T>G	c.(1684-1686)tTg>tGg	p.L562W	TEX11_ENST00000344304.3_Missense_Mutation_p.L562W|TEX11_ENST00000374333.2_Missense_Mutation_p.L547W|TEX11_ENST00000374320.2_Missense_Mutation_p.L237W	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	562					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					TAAATATTCCAAAGCTTTTTC	0.323																																																0													128	110	116					X																	69844743		2202	4300	6502	SO:0001583	missense	56159			AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"testis expressed sequence 11"			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.1685T>G	chrX.hg19:g.69844743A>C	ENSP00000379226:p.Leu562Trp		A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Missense_Mutation	SNP	ENST00000395889.2	hg19	CCDS35323.1	.	.	.	.	.	.	.	.	.	.	A	16.42	3.117493	0.56505	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000374320;ENST00000344304	T;T;T;T	0.55588	0.51;0.51;0.51;0.51	3.73	3.73	0.42828	.	0.000000	0.56097	D	0.000027	T	0.67692	0.2920	M	0.76328	2.33	0.29556	N	0.850963	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.64093	-0.6488	9	.	.	.	-4.4846	8.0729	0.30699	1.0:0.0:0.0:0.0	.	547;562	Q8IYF3-3;Q8IYF3	.;TEX11_HUMAN	W	547;562;237;562	ENSP00000363453:L547W;ENSP00000379226:L562W;ENSP00000363440:L237W;ENSP00000340995:L562W	.	L	-	2	0	TEX11	69761468	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.154000	0.58125	1.494000	0.48533	0.477000	0.44152	TTG		0.323	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1			C	69844743	A	C	69844743	3	2	816	1	0	0	0	0	1	0	0	0	15779	131	5	5	1185	5	TEX11	23	69844743	Missense_Mutation	SNP	A	TCGA-Y8-A894-01A-11D-A35Z-10	2112925	69844743	85425817	87	49016											
MED12	9968	hgsc.bcm.edu	37	X	70350038	70350038	+	Missense_Mutation	SNP	C	C	T			TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chrX:70350038C>T	ENST00000374080.3	+	28	4053	c.4021C>T	c.(4021-4023)Cgg>Tgg	p.R1341W	MED12_ENST00000333646.6_Missense_Mutation_p.R1341W|MED12_ENST00000374102.1_Missense_Mutation_p.R1341W			Q93074	MED12_HUMAN	mediator complex subunit 12	1341					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)					AAACCCCCAGCGGCAGCGCAT	0.577			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome																																Dom	yes		X	Xq13	9968	mediator complex subunit 12	Yes	M	0													32	30	31					X																	70350038		1982	4146	6128	SO:0001583	missense	9968			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.4021C>T	chrX.hg19:g.70350038C>T	ENSP00000363193:p.Arg1341Trp		O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	hg19	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.324558	0.60634	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072;ENST00000439750	D;D;D;D;T	0.84298	-1.83;-1.83;-1.83;-1.83;1.22	4.93	3.09	0.35607	.	0.060839	0.64402	D	0.000005	D	0.89989	0.6875	M	0.64404	1.975	0.58432	D	0.999992	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79108	0.992;0.989;0.992;0.982	D	0.89606	0.3838	10	0.87932	D	0	-21.2152	12.2156	0.54404	0.4466:0.5534:0.0:0.0	.	1341;1188;1341;1341	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	W	1341;1341;1341;1341;1309;86	ENSP00000333125:R1341W;ENSP00000363215:R1341W;ENSP00000363193:R1341W;ENSP00000414203:R1309W;ENSP00000408388:R86W	ENSP00000333125:R1341W	R	+	1	2	MED12	70266763	1.000000	0.71417	0.993000	0.49108	0.987000	0.75469	0.934000	0.28910	0.539000	0.28788	0.544000	0.68410	CGG		0.577	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		T	70350038	C	T	70350038	3	4	816	1	0	0	0	0	1	0	0	0	9430	759	27	1	4131	1	MED12	23	70350038	Missense_Mutation	SNP	C	TCGA-Y8-A894-01A-11D-A35Z-10	505295	70350038	84920522	88	49017											
VGLL1	51442	hgsc.bcm.edu	37	X	135630875	135630875	+	Missense_Mutation	SNP	G	G	C			TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chrX:135630875G>C	ENST00000370634.3	+	3	512	c.342G>C	c.(340-342)caG>caC	p.Q114H	MIR934_ENST00000401241.1_RNA	NM_016267.3	NP_057351.1	Q99990	VGLL1_HUMAN	vestigial-like family member 1	114					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;0.000127)					CTGTGAATCAGTTCTCACCGT	0.587																																																0													267	214	232					X																	135630875		2203	4300	6503	SO:0001583	missense	51442			AF137387	CCDS14658.1	Xq26.3	2014-03-03	2014-03-03		ENSG00000102243	ENSG00000102243			20985	protein-coding gene	gene with protein product		300583	"vestigial like 1 (Drosophila)"			10518497	Standard	NM_016267		Approved	TONDU, TDU	uc004ezy.3	Q99990	OTTHUMG00000022509	ENST00000370634.3:c.342G>C	chrX.hg19:g.135630875G>C	ENSP00000359668:p.Gln114His		Q5H915	Missense_Mutation	SNP	ENST00000370634.3	hg19	CCDS14658.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.891|2.891	-0.229591|-0.229591	0.06022|0.06022	.|.	.|.	ENSG00000102243|ENSG00000102243	ENST00000370634|ENST00000440515	T|.	0.48836|.	0.8|.	5.48|5.48	0.23|0.23	0.15372|0.15372	.|.	1.039970|.	0.07456|.	N|.	0.899768|.	T|T	0.18467|0.18467	0.0443|0.0443	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B|.	0.09022|.	0.002|.	B|.	0.06405|.	0.002|.	T|T	0.21999|0.21999	-1.0229|-1.0229	10|5	0.13853|.	T|.	0.58|.	1.3295|1.3295	1.6736|1.6736	0.02817|0.02817	0.1814:0.2982:0.3651:0.1553|0.1814:0.2982:0.3651:0.1553	.|.	114|.	Q99990|.	VGLL1_HUMAN|.	H|L	114|79	ENSP00000359668:Q114H|.	ENSP00000359668:Q114H|.	Q|V	+|+	3|1	2|0	VGLL1|VGLL1	135458541|135458541	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.006000|0.006000	0.05464|0.05464	-0.138000|-0.138000	0.10374|0.10374	-0.018000|-0.018000	0.14079|0.14079	0.600000|0.600000	0.82982|0.82982	CAG|GTT		0.587	VGLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058493.1	NM_016267		C	135630875	G	C	135630875	3	2	816	1	0	0	0	0	1	0	0	0	17163	1020	36	4	348	4	VGLL1	23	135630875	Missense_Mutation	SNP	G	TCGA-Y8-A894-01A-11D-A35Z-10	65280837	135630875	19639685	89	49018											
BCAP31	10134	hgsc.bcm.edu	37	X	152988658	152988658	+	Silent	SNP	C	C	T			TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chrX:152988658C>T	ENST00000345046.6	-	2	449	c.42G>A	c.(40-42)gcG>gcA	p.A14A	BCAP31_ENST00000458587.2_Silent_p.A81A|BCAP31_ENST00000441714.1_Silent_p.A14A|ABCD1_ENST00000218104.3_5'Flank|BCAP31_ENST00000468947.1_5'Flank|ABCD1_ENST00000370129.4_5'Flank	NM_001256447.1	NP_001243376.1	P51572	BAP31_HUMAN	B-cell receptor-associated protein 31	14					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|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 intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|protein localization to endoplasmic reticulum exit site (GO:0070973)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lipid particle (GO:0005811)|membrane (GO:0016020)				endometrium(2)|large_intestine(2)|lung(2)|prostate(1)	7	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAAAGACCTCCGCATAGAGGA	0.522																																																0													103	81	89					X																	152988658		2203	4299	6502	SO:0001819	synonymous_variant	10134			X81109	CCDS14727.1, CCDS48191.1	Xq28	2005-10-11			ENSG00000185825	ENSG00000185825			16695	protein-coding gene	gene with protein product		300398					Standard	NM_001139441		Approved	DXS1357E, BAP31, 6C6-Ag, CDM	uc011mza.1	P51572	OTTHUMG00000024218	ENST00000345046.6:c.42G>A	chrX.hg19:g.152988658C>T			B3KQ79|D3DWV5|Q13836|Q96CF0	Silent	SNP	ENST00000345046.6	hg19	CCDS14727.1																																																																																				0.522	BCAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061071.1	NM_005745		T	152988658	C	T	152988658	2	4	816	1	0	0	0	0	0	0	0	1	1347	639	23	1		1	BCAP31	23	152988658	Silent	SNP	C	TCGA-Y8-A894-01A-11D-A35Z-10	17357783	152988658	2281902	90	49019											
HCFC1	3054	hgsc.bcm.edu	37	X	153216353	153216353	+	Missense_Mutation	SNP	A	A	G			TCGA-Y8-A894-01A-11D-A35Z-10	TCGA-Y8-A894-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5b9ebe3e-3992-4806-934e-c135aa155ff9	a1ac890b-98dd-4011-aee1-b4409f2a659a	g.chrX:153216353A>G	ENST00000310441.7	-	23	6580	c.5614T>C	c.(5614-5616)Tgt>Cgt	p.C1872R	HCFC1_ENST00000354233.3_Missense_Mutation_p.C1803R|HCFC1_ENST00000369984.4_Missense_Mutation_p.C1917R	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	1872	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCCGGCCACAGGCATTGATT	0.547																																																0													136	147	143					X																	153216353		1983	4139	6122	SO:0001583	missense	3054				CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"VP16-accessory protein", "protein phosphatase 1, regulatory subunit 89"	300019	"mental retardation, X-linked 3", "host cell factor C1 (VP16-accessory protein)"	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.5614T>C	chrX.hg19:g.153216353A>G	ENSP00000309555:p.Cys1872Arg		Q6P4G5	Missense_Mutation	SNP	ENST00000310441.7	hg19	CCDS44020.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.0|22.0	4.232555|4.232555	0.79688|0.79688	.|.	.|.	ENSG00000172534|ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233|ENST00000444191	T;T;T|.	0.52526|.	0.66;0.66;0.66|.	5.64|5.64	5.64|5.64	0.86602|0.86602	Fibronectin, type III (2);Immunoglobulin-like fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78253|0.78253	0.4254|0.4254	M|M	0.85630|0.85630	2.765|2.765	0.58432|0.58432	D|D	0.999999|0.999999	D|.	0.71674|.	0.998|.	P|.	0.61940|.	0.896|.	T|T	0.80933|0.80933	-0.1161|-0.1161	10|5	0.87932|.	D|.	0|.	.|.	13.8588|13.8588	0.63548|0.63548	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1872|.	P51610|.	HCFC1_HUMAN|.	R|P	1872;1917;1803|447	ENSP00000309555:C1872R;ENSP00000359001:C1917R;ENSP00000346174:C1803R|.	ENSP00000309555:C1872R|.	C|L	-|-	1|2	0|0	HCFC1|HCFC1	152869547|152869547	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	7.161000|7.161000	0.77505|0.77505	1.917000|1.917000	0.55516|0.55516	0.424000|0.424000	0.28305|0.28305	TGT|CTG		0.547	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		G	153216353	A	G	153216353	3	3	816	1	0	0	0	0	1	0	0	0	6993	188	7	3	509	3	HCFC1	23	153216353	Missense_Mutation	SNP	A	TCGA-Y8-A894-01A-11D-A35Z-10	227695	153216353	2054207	91	49020											
NOL9	79707	hgsc.bcm.edu	37	1	6586011	6586011	+	Missense_Mutation	SNP	A	A	C			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr1:6586011A>C	ENST00000377705.5	-	12	2044	c.2012T>G	c.(2011-2013)cTt>cGt	p.L671R		NM_024654.4	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	671					maturation of 5.8S rRNA (GO:0000460)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|polynucleotide 5'-hydroxyl-kinase activity (GO:0051731)|RNA binding (GO:0003723)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		TGCTCCAGGAAGTTTAAAATT	0.453																																																0													147	143	144					1																	6586011		2203	4300	6503	SO:0001583	missense	79707			AK091284	CCDS80.1	1p36.31	2012-05-02			ENSG00000162408	ENSG00000162408			26265	protein-coding gene	gene with protein product	"polynucleotide 5'-kinase"					21063389	Standard	NM_024654		Approved	FLJ23323, NET6, Grc3	uc001ans.3	Q5SY16	OTTHUMG00000000904	ENST00000377705.5:c.2012T>G	chr1.hg19:g.6586011A>C	ENSP00000366934:p.Leu671Arg		Q2NL84|Q4VBY3|Q6P472|Q7L4D6|Q96EE0|Q9H5L4	Missense_Mutation	SNP	ENST00000377705.5	hg19	CCDS80.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.159128	0.78226	.	.	ENSG00000162408	ENST00000377705	T	0.25414	1.8	5.29	5.29	0.74685	.	0.313337	0.30483	N	0.009529	T	0.24736	0.0600	N	0.24115	0.695	0.26608	N	0.972888	P	0.38223	0.623	P	0.46718	0.525	T	0.13818	-1.0495	10	0.31617	T	0.26	-17.1771	11.6254	0.51142	1.0:0.0:0.0:0.0	.	671	Q5SY16	NOL9_HUMAN	R	671	ENSP00000366934:L671R	ENSP00000366934:L671R	L	-	2	0	NOL9	6508598	1.000000	0.71417	0.913000	0.36048	0.959000	0.62525	4.940000	0.63533	2.010000	0.58986	0.533000	0.62120	CTT		0.453	NOL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002625.1	NM_024654		C	6586011	A	C	6586011	3	2	817	1	0	0	0	0	1	0	0	0	10530	72	3	5	100	5	NOL9	1	6586011	Missense_Mutation	SNP	A	TCGA-Y8-A895-01A-11D-A35Z-10		6586011	242664610	1	49021											
EVI5	7813	hgsc.bcm.edu	37	1	93029241	93029241	+	Nonsense_Mutation	SNP	A	A	C			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr1:93029241A>C	ENST00000370331.1	-	17	2085	c.2076T>G	c.(2074-2076)taT>taG	p.Y692*	EVI5_ENST00000540033.1_Nonsense_Mutation_p.Y692*|EVI5_ENST00000543509.1_Nonsense_Mutation_p.Y703*|EVI5_ENST00000491940.1_5'UTR	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	692	Dimerization.|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)		GTTCCCCAATATACTGGTTAG	0.353																																																0													238	220	226					1																	93029241		2203	4300	6503	SO:0001587	stop_gained	7813			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.2076T>G	chr1.hg19:g.93029241A>C	ENSP00000359356:p.Tyr692*		A6NKX8|B9A6J0|Q9H1Y9	Nonsense_Mutation	SNP	ENST00000370331.1	hg19	CCDS30774.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.957523	0.73902	.	.	ENSG00000067208	ENST00000370331;ENST00000540033;ENST00000543509	.	.	.	5.13	-1.66	0.08265	.	0.072010	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-0.5212	12.6233	0.56616	0.5336:0.0:0.4664:0.0	.	.	.	.	X	692;692;703	.	ENSP00000359356:Y692X	Y	-	3	2	EVI5	92801829	1.000000	0.71417	0.994000	0.49952	0.969000	0.65631	1.810000	0.38932	-0.197000	0.10350	0.260000	0.18958	TAT		0.353	EVI5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030047.1	NM_005665		C	93029241	A	C	93029241	4	2	817	1	0	0	0	0	0	1	0	0	5291	456	16	5	364	5	EVI5	1	93029241	Nonsense_Mutation	SNP	A	TCGA-Y8-A895-01A-11D-A35Z-10	86443230	93029241	156221380	2	49022											
SV2A	9900	hgsc.bcm.edu	37	1	149882136	149882136	+	Missense_Mutation	SNP	G	G	C			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr1:149882136G>C	ENST00000369146.3	-	5	1565	c.1075C>G	c.(1075-1077)Cgt>Ggt	p.R359G	SV2A_ENST00000369145.1_Missense_Mutation_p.R359G	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	359					cellular calcium ion homeostasis (GO:0006874)|neurotransmitter transport (GO:0006836)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane transporter activity (GO:0022857)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	AGGAAGAAACGGGGGCTCTCA	0.607																																																0													39	36	37					1																	149882136		2203	4299	6502	SO:0001583	missense	9900			AB018279	CCDS940.1	1q21.2	2008-02-05			ENSG00000159164	ENSG00000159164			20566	protein-coding gene	gene with protein product		185860				7681585, 10611374	Standard	NM_014849		Approved	SV2, KIAA0736	uc001etg.3	Q7L0J3	OTTHUMG00000012209	ENST00000369146.3:c.1075C>G	chr1.hg19:g.149882136G>C	ENSP00000358142:p.Arg359Gly		D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Missense_Mutation	SNP	ENST00000369146.3	hg19	CCDS940.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.532504	0.85812	.	.	ENSG00000159164	ENST00000369146;ENST00000369145	T;T	0.79845	-1.31;-1.31	5.09	5.09	0.68999	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.91185	0.7223	H	0.96048	3.76	0.80722	D	1	P	0.51240	0.943	P	0.60117	0.869	D	0.93350	0.6717	10	0.87932	D	0	-13.1584	16.0247	0.80536	0.0:0.0:1.0:0.0	.	359	Q7L0J3	SV2A_HUMAN	G	359	ENSP00000358142:R359G;ENSP00000358141:R359G	ENSP00000358141:R359G	R	-	1	0	SV2A	148148760	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.691000	0.84191	2.638000	0.89438	0.650000	0.86243	CGT		0.607	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033754.1			C	149882136	G	C	149882136	3	2	817	1	0	0	0	0	1	0	0	0	15422	1116	39	4	1189	4	SV2A	1	149882136	Missense_Mutation	SNP	G	TCGA-Y8-A895-01A-11D-A35Z-10	56852895	149882136	99368485	3	49023											
SETDB1	9869	hgsc.bcm.edu	37	1	150936091	150936091	+	Missense_Mutation	SNP	C	C	A	rs148647469	byFrequency	TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr1:150936091C>A	ENST00000271640.5	+	20	3733	c.3543C>A	c.(3541-3543)aaC>aaA	p.N1181K	RP11-316M1.12_ENST00000560481.1_RNA|CERS2_ENST00000345896.4_5'Flank|RP11-316M1.12_ENST00000561111.1_RNA|SETDB1_ENST00000368969.4_Missense_Mutation_p.N1181K	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	1181	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)			AATCAACCAACATGGCCTCTG	0.493																																																0													194	192	192					1																	150936091		2203	4300	6503	SO:0001583	missense	9869			D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"Chromatin-modifying enzymes / K-methyltransferases", "Tudor domain containing"	10761	protein-coding gene	gene with protein product	"tudor domain containing 21"	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.3543C>A	chr1.hg19:g.150936091C>A	ENSP00000271640:p.Asn1181Lys		A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Missense_Mutation	SNP	ENST00000271640.5	hg19	CCDS44217.1	.	.	.	.	.	.	.	.	.	.	C	12.41	1.929543	0.34096	.	.	ENSG00000143379	ENST00000271640;ENST00000368969;ENST00000498193	D;D;D	0.81659	-1.52;-1.52;-1.52	5.79	4.88	0.63580	SET domain (3);	0.148570	0.64402	D	0.000009	T	0.47801	0.1465	N	0.19112	0.55	0.80722	D	1	B;P;B	0.43287	0.096;0.802;0.017	B;B;B	0.40477	0.089;0.33;0.025	T	0.59279	-0.7484	10	0.06099	T	0.92	.	11.6707	0.51399	0.0:0.7451:0.1871:0.0678	.	1181;1181;1181	E9PRF4;Q15047-3;Q15047	.;.;SETB1_HUMAN	K	1181	ENSP00000271640:N1181K;ENSP00000357965:N1181K;ENSP00000432348:N1181K	ENSP00000271640:N1181K	N	+	3	2	SETDB1	149202715	1.000000	0.71417	0.998000	0.56505	0.326000	0.28443	1.921000	0.40035	1.454000	0.47793	0.561000	0.74099	AAC		0.493	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2			A	150936091	C	A	150936091	3	1	817	1	0	0	0	0	1	0	0	0	14144	477	17	4	3617	4	SETDB1	1	150936091	Missense_Mutation	SNP	C	TCGA-Y8-A895-01A-11D-A35Z-10	1053955	150936091	98314530	4	49024											
ZNF687	57592	hgsc.bcm.edu	37	1	151259239	151259239	+	Missense_Mutation	SNP	A	A	G			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr1:151259239A>G	ENST00000368879.2	+	2	570	c.472A>G	c.(472-474)Act>Gct	p.T158A		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	158	Pro-rich.				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)			GGAAGGCAAAACTCCCTTGGA	0.602																																																0													58	61	60					1																	151259239		2203	4300	6503	SO:0001583	missense	57592				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.472A>G	chr1.hg19:g.151259239A>G	ENSP00000357874:p.Thr158Ala		D3DV17|Q68DQ8|Q9H937|Q9P2A7	Missense_Mutation	SNP	ENST00000368879.2	hg19		.	.	.	.	.	.	.	.	.	.	A	0.013	-1.628884	0.00813	.	.	ENSG00000143373	ENST00000336715;ENST00000324048;ENST00000368879	T;T;T	0.00768	5.72;5.72;6.05	4.52	-0.232	0.13082	.	0.511841	0.14589	N	0.310353	T	0.00144	0.0004	N	0.04508	-0.205	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	0.13388	-1.0511	9	.	.	.	.	5.0653	0.14578	0.5089:0.1725:0.3187:0.0	.	158;158;158	Q8N1G0-2;Q8N1G0;F8WCX2	.;ZN687_HUMAN;.	A	158	ENSP00000336620:T158A;ENSP00000319829:T158A;ENSP00000357874:T158A	.	T	+	1	0	ZNF687	149525863	0.204000	0.23447	0.537000	0.28052	0.887000	0.51463	0.182000	0.16900	0.144000	0.18951	-0.736000	0.03550	ACT		0.602	ZNF687-201	KNOWN	basic	protein_coding	protein_coding		NM_020832		G	151259239	A	G	151259239	3	3	817	1	0	0	0	0	1	0	0	0	18097	43	2	3	474	3	ZNF687	1	151259239	Missense_Mutation	SNP	A	TCGA-Y8-A895-01A-11D-A35Z-10	323148	151259239	97991382	5	49025											
CRTC2	200186	hgsc.bcm.edu	37	1	153921707	153921707	+	Missense_Mutation	SNP	A	A	C			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr1:153921707A>C	ENST00000368633.1	-	12	1685	c.1558T>G	c.(1558-1560)Tca>Gca	p.S520A	CRTC2_ENST00000368630.3_Missense_Mutation_p.S200A|DENND4B_ENST00000361217.4_5'Flank	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	520					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)			TGCCCACCTGAGGACTGCACT	0.612																																																0													63	61	62					1																	153921707		2203	4300	6503	SO:0001583	missense	200186			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.1558T>G	chr1.hg19:g.153921707A>C	ENSP00000357622:p.Ser520Ala		Q6UUV8|Q7Z3X7|Q8N332	Missense_Mutation	SNP	ENST00000368633.1	hg19	CCDS30875.1	.	.	.	.	.	.	.	.	.	.	a	6.444	0.450124	0.12223	.	.	ENSG00000160741	ENST00000368630;ENST00000368633	T;T	0.44083	0.93;2.76	4.71	0.983	0.19767	.	0.524627	0.17767	N	0.162703	T	0.07369	0.0186	L	0.36672	1.1	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.04013	0.0;0.001	T	0.34279	-0.9835	10	0.06365	T	0.9	-0.5344	2.5058	0.04645	0.5691:0.0:0.2289:0.202	.	520;200	Q53ET0;Q5T4K5	CRTC2_HUMAN;.	A	200;520	ENSP00000357619:S200A;ENSP00000357622:S520A	ENSP00000357619:S200A	S	-	1	0	CRTC2	152188331	0.041000	0.20044	0.971000	0.41717	0.514000	0.34195	0.883000	0.28200	0.298000	0.22638	0.370000	0.22315	TCA		0.612	CRTC2-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090272.3	NM_181715		C	153921707	A	C	153921707	3	2	817	1	0	0	0	0	1	0	0	0	3902	304	11	5	535	5	CRTC2	1	153921707	Missense_Mutation	SNP	A	TCGA-Y8-A895-01A-11D-A35Z-10	2662468	153921707	95328914	6	49026											
DCAF8	50717	hgsc.bcm.edu	37	1	160206968	160206968	+	Missense_Mutation	SNP	C	C	T			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr1:160206968C>T	ENST00000368073.3	-	6	1350	c.916G>A	c.(916-918)Gca>Aca	p.A306T	DCAF8_ENST00000608310.1_Missense_Mutation_p.A460T|DCAF8_ENST00000556710.1_Missense_Mutation_p.A460T|DCAF8_ENST00000368074.1_Missense_Mutation_p.A306T|DCAF8_ENST00000326837.2_Missense_Mutation_p.A306T			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	306					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						AAAACAACTGCATCTTCACCT	0.408																																																0													68	58	62					1																	160206968		2203	4297	6500	SO:0001583	missense	50717			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.916G>A	chr1.hg19:g.160206968C>T	ENSP00000357052:p.Ala306Thr		D3DVE6|Q12839|Q4QQI6|Q53F14|Q66K50|Q68CS7|Q96E00	Missense_Mutation	SNP	ENST00000368073.3	hg19	CCDS1200.1	.	.	.	.	.	.	.	.	.	.	C	36	5.645604	0.96704	.	.	ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000258465	ENST00000368073;ENST00000326837;ENST00000368074;ENST00000555195;ENST00000540855;ENST00000556710	T;T;T;T;T	0.80909	-1.43;-1.43;-1.43;-1.43;-1.43	5.82	5.82	0.92795	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.64402	U	0.000001	D	0.85801	0.5781	L	0.52364	1.645	0.80722	D	1	D;D	0.71674	0.996;0.998	D;D	0.79784	0.993;0.948	D	0.86237	0.1641	10	0.72032	D	0.01	-8.7602	18.8801	0.92352	0.0:1.0:0.0:0.0	.	460;306	G3V3G9;Q5TAQ9	.;DCAF8_HUMAN	T	306;306;306;460;287;460	ENSP00000357052:A306T;ENSP00000318227:A306T;ENSP00000357053:A306T;ENSP00000451989:A460T;ENSP00000451235:A460T	ENSP00000318227:A306T	A	-	1	0	RP11-574F21.3;DCAF8	158473592	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.768000	0.74980	2.756000	0.94617	0.563000	0.77884	GCA		0.408	DCAF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077402.2	NM_015726		T	160206968	C	T	160206968	3	4	817	1	0	0	0	0	1	0	0	0	4278	710	25	2	913	2	DCAF8	1	160206968	Missense_Mutation	SNP	C	TCGA-Y8-A895-01A-11D-A35Z-10	6285261	160206968	89043653	7	49027											
CDC42BPA	8476	hgsc.bcm.edu	37	1	227182647	227182647	+	Missense_Mutation	SNP	C	C	A			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr1:227182647C>A	ENST00000366769.3	-	35	6196	c.4905G>T	c.(4903-4905)agG>agT	p.R1635S	CDC42BPA_ENST00000366764.2_Missense_Mutation_p.R1607S|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.R1615S|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.R1670S|RP5-1087E8.3_ENST00000433837.1_RNA|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.R1697S|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.R1648S|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.R1554S	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)				CAGAGAATTCCCTCTTTAATG	0.527																																																0													127	120	122					1																	227182647		2203	4300	6503	SO:0001583	missense	8476			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.4905G>T	chr1.hg19:g.227182647C>A	ENSP00000355731:p.Arg1635Ser			Missense_Mutation	SNP	ENST00000366769.3	hg19	CCDS1558.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.01|15.01	2.705914|2.705914	0.48412|0.48412	.|.	.|.	ENSG00000143776|ENSG00000143776	ENST00000448940;ENST00000442054|ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000535525;ENST00000366765	.|T;T;T;T;T;T;T	.|0.70164	.|-0.24;-0.23;-0.46;-0.24;-0.3;-0.3;-0.23	5.09|5.09	3.14|3.14	0.36123|0.36123	.|.	.|0.161634	.|0.52532	.|D	.|0.000075	.|T	.|0.66257	.|0.2771	L|L	0.28014|0.28014	0.82|0.82	0.51482|0.51482	D|D	0.999926|0.999926	.|D;D;D;D;D;D	.|0.69078	.|0.997;0.996;0.997;0.996;0.996;0.991	.|D;D;D;D;D;D	.|0.81914	.|0.993;0.99;0.995;0.99;0.99;0.992	.|T	.|0.62728	.|-0.6793	.|10	.|0.34782	.|T	.|0.22	.|.	7.1194|7.1194	0.25435|0.25435	0.0:0.7042:0.0:0.2958|0.0:0.7042:0.0:0.2958	.|.	.|1615;1607;1554;1635;1670;899	.|F5H5N0;Q5VT25-4;Q5VT25-3;Q5VT25-5;Q5VT25-2;Q5T799	.|.;.;.;.;.;.	X|S	900;964|1635;1554;1697;1670;1607;1615;1648	.|ENSP00000355731:R1635S;ENSP00000355729:R1554S;ENSP00000335341:R1697S;ENSP00000355728:R1670S;ENSP00000355726:R1607S;ENSP00000443275:R1615S;ENSP00000355727:R1648S	.|ENSP00000335341:R1697S	G|R	-|-	1|3	0|2	CDC42BPA|CDC42BPA	225249270|225249270	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	1.345000|1.345000	0.33953|0.33953	1.064000|1.064000	0.40671|0.40671	0.655000|0.655000	0.94253|0.94253	GGA|AGG		0.527	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826		A	227182647	C	A	227182647	3	1	817	1	0	0	0	0	1	0	0	0	3074	622	22	4	262	4	CDC42BPA	1	227182647	Missense_Mutation	SNP	C	TCGA-Y8-A895-01A-11D-A35Z-10	66975679	227182647	22067974	8	49028											
SMYD3	64754	hgsc.bcm.edu	37	1	246021812	246021812	+	Silent	SNP	G	G	A			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr1:246021812G>A	ENST00000388985.4	-	10	1061	c.1062C>T	c.(1060-1062)acC>acT	p.T354T	SMYD3_ENST00000541742.1_Silent_p.T295T|SMYD3_ENST00000366517.1_5'UTR|SMYD3_ENST00000490107.1_Silent_p.T295T			Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3	354					cellular response to dexamethasone stimulus (GO:0071549)|establishment of protein localization (GO:0045184)|myotube cell development (GO:0014904)|negative regulation of protein kinase activity (GO:0006469)|nucleosome assembly (GO:0006334)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)			breast(3)|large_intestine(5)|lung(8)|skin(1)	17	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		ATGGCTCCATGGTCCGAGTAC	0.532																																																0													90	75	80					1																	246021812		2203	4300	6503	SO:0001819	synonymous_variant	64754			AK023594	CCDS31083.1	1q44	2011-07-01	2003-05-14	2003-05-16	ENSG00000185420	ENSG00000185420		"Zinc fingers, MYND-type", "Chromatin-modifying enzymes / K-methyltransferases"	15513	protein-coding gene	gene with protein product		608783	"zinc finger, MYND domain containing 1"	ZNFN3A1, ZMYND1			Standard	NM_022743		Approved	KMT3E	uc001ibl.3	Q9H7B4	OTTHUMG00000040508	ENST00000388985.4:c.1062C>T	chr1.hg19:g.246021812G>A			A8K0P0|B1AN38|Q86TL8|Q8N5Z6|Q96AI5	Silent	SNP	ENST00000388985.4	hg19	CCDS53486.1																																																																																				0.532	SMYD3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_022743		A	246021812	G	A	246021812	2	1	817	1	0	0	0	0	0	0	0	1	14829	1335	47	2		2	SMYD3	1	246021812	Silent	SNP	G	TCGA-Y8-A895-01A-11D-A35Z-10	18839165	246021812	3228809	9	49029											
HS1BP3	64342	hgsc.bcm.edu	37	2	20840800	20840800	+	Silent	SNP	A	A	G			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr2:20840800A>G	ENST00000304031.3	-	3	364	c.339T>C	c.(337-339)aaT>aaC	p.N113N	HS1BP3_ENST00000406618.3_Silent_p.N113N|HS1BP3_ENST00000402541.1_Silent_p.N113N	NM_022460.3	NP_071905.3	Q53T59	H1BP3_HUMAN	HCLS1 binding protein 3	113	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.						phosphatidylinositol binding (GO:0035091)			endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCAGGATCTCATTGAACACGG	0.587																																																0													164	162	163					2																	20840800		2203	4300	6503	SO:0001819	synonymous_variant	64342				CCDS1700.1	2p24.1	2006-08-15			ENSG00000118960	ENSG00000118960			24979	protein-coding gene	gene with protein product		609359				10590261, 15699368	Standard	NM_022460		Approved	HS1-BP3,FLJ14249	uc002rdw.1	Q53T59	OTTHUMG00000122099	ENST00000304031.3:c.339T>C	chr2.hg19:g.20840800A>G			B2RAW2|D6W529|Q86VC2|Q8N367	Silent	SNP	ENST00000304031.3	hg19	CCDS1700.1																																																																																				0.587	HS1BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242863.1	NM_022460		G	20840800	A	G	20840800	2	3	817	1	0	0	0	0	0	0	0	1	7363	214	8	3		3	HS1BP3	2	20840800	Silent	SNP	A	TCGA-Y8-A895-01A-11D-A35Z-10		20840800	222358573	10	49030											
C2orf78	388960	hgsc.bcm.edu	37	2	74044108	74044108	+	Missense_Mutation	SNP	T	T	C			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr2:74044108T>C	ENST00000409561.1	+	3	2879	c.2758T>C	c.(2758-2760)Tac>Cac	p.Y920H		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	920										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						ATACTATGGCTACACAATCTA	0.343																																																0													25	27	26					2																	74044108		1850	4087	5937	SO:0001583	missense	388960			AC092653, AC136006, AK125975	CCDS46338.1	2p13.2	2008-07-18			ENSG00000187833	ENSG00000187833			34349	protein-coding gene	gene with protein product							Standard	NM_001080474		Approved	FLJ43987, hCG1989538, COG5373	uc002sjr.1	A6NCI8	OTTHUMG00000152819	ENST00000409561.1:c.2758T>C	chr2.hg19:g.74044108T>C	ENSP00000387124:p.Tyr920His			Missense_Mutation	SNP	ENST00000409561.1	hg19	CCDS46338.1	.	.	.	.	.	.	.	.	.	.	T	16.94	3.259717	0.59321	.	.	ENSG00000187833	ENST00000409561;ENST00000342345	T	0.59224	0.28	5.34	5.34	0.76211	.	0.000000	0.44483	D	0.000445	T	0.74696	0.3750	M	0.79475	2.455	0.23916	N	0.996475	D	0.89917	1.0	D	0.81914	0.995	T	0.68957	-0.5272	10	0.87932	D	0	-20.0405	12.0119	0.53293	0.0:0.0:0.0:1.0	.	920	A6NCI8	CB078_HUMAN	H	920;890	ENSP00000387124:Y920H	ENSP00000340692:Y890H	Y	+	1	0	C2orf78	73897616	0.987000	0.35691	0.039000	0.18376	0.004000	0.04260	3.487000	0.53222	2.159000	0.67721	0.455000	0.32223	TAC		0.343	C2orf78-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000328083.1	NM_001080474		C	74044108	T	C	74044108	3	2	817	1	0	0	0	0	1	0	0	0	2197	1522	53	3	2768	3	C2orf78	2	74044108	Missense_Mutation	SNP	T	TCGA-Y8-A895-01A-11D-A35Z-10	53203308	74044108	169155265	11	49031											
SEPT10	151011	hgsc.bcm.edu	37	2	110323346	110323346	+	Missense_Mutation	SNP	C	C	G			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr2:110323346C>G	ENST00000397712.2	-	7	1231	c.853G>C	c.(853-855)Gta>Cta	p.V285L	SEPT10_ENST00000545389.1_Missense_Mutation_p.V118L|SEPT10_ENST00000334001.6_Missense_Mutation_p.V152L|SEPT10_ENST00000415095.1_Missense_Mutation_p.V285L|SEPT10_ENST00000437928.1_Missense_Mutation_p.V270L|SEPT10_ENST00000468616.1_5'UTR|SEPT10_ENST00000397714.2_Missense_Mutation_p.V262L|SEPT10_ENST00000356688.4_Missense_Mutation_p.V285L	NM_144710.3	NP_653311.1	Q9P0V9	SEP10_HUMAN	septin 10	285	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						TTACCTTGTACAACACCCCAA	0.428																																																0													210	196	201					2																	110323346		1960	4139	6099	SO:0001583	missense	151011			AF146760	CCDS42726.1, CCDS46383.1	2q13	2013-01-21			ENSG00000186522	ENSG00000186522		"Septins"	14349	protein-coding gene	gene with protein product	"sept1-like"	611737				12711328	Standard	NM_144710		Approved	FLJ11619	uc002tew.4	Q9P0V9	OTTHUMG00000154957	ENST00000397712.2:c.853G>C	chr2.hg19:g.110323346C>G	ENSP00000380824:p.Val285Leu		B3KRQ9|Q86VP5|Q9HAH6	Missense_Mutation	SNP	ENST00000397712.2	hg19	CCDS46383.1	.	.	.	.	.	.	.	.	.	.	C	18.95	3.731374	0.69189	.	.	ENSG00000186522	ENST00000352314;ENST00000356688;ENST00000397712;ENST00000397714;ENST00000334001;ENST00000437928;ENST00000545389;ENST00000415095;ENST00000493445	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	5.25	5.25	0.73442	.	0.000000	0.64402	D	0.000007	T	0.71846	0.3388	M	0.67953	2.075	0.80722	D	1	B;D;P;B;B;P	0.76494	0.017;0.999;0.869;0.047;0.014;0.869	B;D;B;B;B;B	0.85130	0.051;0.997;0.433;0.086;0.03;0.433	T	0.71487	-0.4578	10	0.46703	T	0.11	.	18.7996	0.92010	0.0:1.0:0.0:0.0	.	152;118;285;285;262;285	B7Z371;B7Z277;A8K7M3;B5ME97;Q9P0V9-3;Q9P0V9	.;.;.;.;.;SEP10_HUMAN	L	243;285;285;262;152;270;118;285;92	ENSP00000349116:V285L;ENSP00000380824:V285L;ENSP00000380826:V262L;ENSP00000334234:V152L;ENSP00000407790:V270L;ENSP00000439364:V118L;ENSP00000396728:V285L;ENSP00000445707:V92L	ENSP00000334234:V152L	V	-	1	0	SEPT10	109680635	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	7.338000	0.79269	2.600000	0.87896	0.650000	0.86243	GTA		0.428	SEPT10-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337804.1	NM_144710		G	110323346	C	G	110323346	3	3	817	1	0	0	0	0	1	0	0	0	14066	478	17	4	531	4	SEPT10	2	110323346	Missense_Mutation	SNP	C	TCGA-Y8-A895-01A-11D-A35Z-10	36279238	110323346	132876027	12	49032											
MYO1B	4430	hgsc.bcm.edu	37	2	192194689	192194689	+	Missense_Mutation	SNP	T	T	G			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr2:192194689T>G	ENST00000392318.3	+	4	527	c.280T>G	c.(280-282)Tcc>Gcc	p.S94A	MYO1B_ENST00000304164.4_Missense_Mutation_p.S94A|MYO1B_ENST00000339514.4_Missense_Mutation_p.S94A|MYO1B_ENST00000392316.1_Missense_Mutation_p.S94A	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	94	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)			AGCATACAGATCCCTACGAGA	0.413																																																0													216	213	214					2																	192194689		2203	4300	6503	SO:0001583	missense	4430			L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"Myosins / Myosin superfamily : Class I"	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.280T>G	chr2.hg19:g.192194689T>G	ENSP00000376132:p.Ser94Ala		O43794|Q7Z6L5	Missense_Mutation	SNP	ENST00000392318.3	hg19	CCDS46477.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.163706	0.78226	.	.	ENSG00000128641	ENST00000418908;ENST00000339514;ENST00000439452;ENST00000392318;ENST00000304164;ENST00000438652;ENST00000451437;ENST00000392316	D;D;D;D;D;D;D	0.87256	-2.23;-2.23;-2.23;-2.23;-2.23;-2.23;-2.23	5.76	5.76	0.90799	Myosin head, motor domain (2);	0.124736	0.56097	D	0.000027	D	0.84651	0.5519	N	0.26162	0.8	0.80722	D	1	B;P	0.44627	0.333;0.839	B;P	0.51266	0.326;0.664	T	0.82331	-0.0510	10	0.22706	T	0.39	.	13.5956	0.61987	0.0:0.0:0.0:1.0	.	94;94	O43795;O43795-2	MYO1B_HUMAN;.	A	94	ENSP00000401324:S94A;ENSP00000341903:S94A;ENSP00000376132:S94A;ENSP00000306382:S94A;ENSP00000399459:S94A;ENSP00000388140:S94A;ENSP00000376130:S94A	ENSP00000306382:S94A	S	+	1	0	MYO1B	191902934	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.872000	0.75536	2.189000	0.69895	0.528000	0.53228	TCC		0.413	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	NM_012223		G	192194689	T	G	192194689	3	3	817	1	0	0	0	0	1	0	0	0	10071	1435	50	5	290	5	MYO1B	2	192194689	Missense_Mutation	SNP	T	TCGA-Y8-A895-01A-11D-A35Z-10	81871343	192194689	51004684	13	49033											
C3orf31	132001	hgsc.bcm.edu	37	3	11851067	11851067	+	Silent	SNP	A	A	T			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr3:11851067A>T	ENST00000444133.2	-	6	940	c.798T>A	c.(796-798)ccT>ccA	p.P266P	TAMM41_ENST00000273037.5_Silent_p.P266P|TAMM41_ENST00000455809.1_Silent_p.P266P			Q96BW9	TAM41_HUMAN	TAM41, mitochondrial translocator assembly and maintenance protein, homolog (S. cerevisiae)	266					cardiolipin biosynthetic process (GO:0032049)|CDP-diacylglycerol biosynthetic process (GO:0016024)	extrinsic component of mitochondrial inner membrane (GO:0031314)	phosphatidate cytidylyltransferase activity (GO:0004605)										TGTTTTTTCCAGGAGGGTCCA	0.428																																																0													134	127	129					3																	11851067		2203	4300	6503	SO:0001819	synonymous_variant	132001				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.798T>A	chr3.hg19:g.11851067A>T			B4DIY7|C9J2U4	Silent	SNP	ENST00000444133.2	hg19																																																																																					0.428	TAMM41-008	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000339258.2	NM_138807		T	11851067	A	T	11851067	2	4	817	1	0	0	0	0	0	0	0	1	2223	175	7	5		5	C3orf31	3	11851067	Silent	SNP	A	TCGA-Y8-A895-01A-11D-A35Z-10		11851067	186171363	14	49034											
LTF	4057	hgsc.bcm.edu	37	3	46477717	46477717	+	Missense_Mutation	SNP	A	A	T			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr3:46477717A>T	ENST00000231751.4	-	17	2397	c.2102T>A	c.(2101-2103)cTc>cAc	p.L701H	LTF_ENST00000417439.1_Missense_Mutation_p.L699H|LTF_ENST00000493056.1_5'Flank|LTF_ENST00000426532.2_Missense_Mutation_p.L657H	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	701					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)		GGCTTCCAGGAGGGCTGTGGG	0.453																																																0													108	112	110					3																	46477717		2203	4296	6499	SO:0001583	missense	4057				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.2102T>A	chr3.hg19:g.46477717A>T	ENSP00000231751:p.Leu701His		A8K9U8|B2MV13|B7Z4X2|E7EQH5|O00756|Q16780|Q16785|Q16786|Q16789|Q5DSM0|Q8IU92|Q8IZH6|Q8TCD2|Q96KZ4|Q96KZ5|Q9H1Z3|Q9UCY5	Missense_Mutation	SNP	ENST00000231751.4	hg19	CCDS33747.1	.	.	.	.	.	.	.	.	.	.	A	16.44	3.124032	0.56613	.	.	ENSG00000012223	ENST00000231751;ENST00000426532;ENST00000417439;ENST00000443496	T;T;T;T	0.08193	3.12;3.12;3.12;3.12	5.42	4.22	0.49857	.	0.241563	0.35013	N	0.003507	T	0.33147	0.0853	M	0.93016	3.37	0.44110	D	0.996887	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.70227	0.968;0.911;0.968	T	0.16158	-1.0412	10	0.87932	D	0	-3.841	8.6047	0.33767	0.9111:0.0:0.0889:0.0	.	699;688;701	E7ER44;E7EQB2;P02788	.;.;TRFL_HUMAN	H	701;657;699;688	ENSP00000231751:L701H;ENSP00000405719:L657H;ENSP00000405546:L699H;ENSP00000397427:L688H	ENSP00000231751:L701H	L	-	2	0	LTF	46452721	0.951000	0.32395	0.576000	0.28549	0.698000	0.40448	2.102000	0.41796	0.959000	0.37980	0.533000	0.62120	CTC		0.453	LTF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343951.2	NM_002343		T	46477717	A	T	46477717	3	4	817	1	0	0	0	0	1	0	0	0	9081	304	11	5	34	5	LTF	3	46477717	Missense_Mutation	SNP	A	TCGA-Y8-A895-01A-11D-A35Z-10	34626650	46477717	151544713	15	49035											
C3orf63	23272	hgsc.bcm.edu	37	3	56680758	56680758	+	Frame_Shift_Del	DEL	T	T	-			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr3:56680758delT	ENST00000493960.2	-	14	2017	c.2007delA	c.(2005-2007)agafs	p.R669fs	FAM208A_ENST00000355628.5_Frame_Shift_Del_p.R669fs|FAM208A_ENST00000431842.2_Frame_Shift_Del_p.R273fs	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	669							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						AATGAGATGATCTTTGCTTTC	0.343																																																0													138	128	132					3																	56680758		2203	4300	6503	SO:0001589	frameshift_variant	23272			AF180425	CCDS2877.1, CCDS46853.1	3p14.3	2011-09-14	2011-09-14	2011-09-14	ENSG00000163946	ENSG00000163946			30314	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 63"	C3orf63		10470851, 11149944	Standard	NM_015224		Approved	se89-1, RAP140, KIAA1105	uc003die.4	Q9UK61	OTTHUMG00000158827	ENST00000493960.2:c.2007delA	chr3.hg19:g.56680758delT	ENSP00000417509:p.Arg669fs		A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Frame_Shift_Del	DEL	ENST00000493960.2	hg19	CCDS46853.1																																																																																				0.343	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352352.2	NM_015224		-	56680758	T	-	56680758	7	5	817	1	0	1	0	1	0	0	0	0	2241	1432	50	0	3109	0	C3orf63	3	56680758	Frame_Shift_Del	DEL	T	TCGA-Y8-A895-01A-11D-A35Z-10	10203041	56680758	141341672	16	49036											
MCM2	4171	hgsc.bcm.edu	37	3	127335805	127335805	+	Silent	SNP	G	G	A			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr3:127335805G>A	ENST00000265056.7	+	10	1861	c.1617G>A	c.(1615-1617)gtG>gtA	p.V539V		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	539	MCM.				cell cycle (GO:0007049)|cellular response to interleukin-4 (GO:0071353)|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)|nucleosome assembly (GO:0006334)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|MCM complex (GO:0042555)|microtubule cytoskeleton (GO:0015630)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA replication origin binding (GO:0003688)|metal ion binding (GO:0046872)			ovary(3)|skin(2)|stomach(1)	6						TTGAGAAAGTGTCCAGCCGAG	0.597																																																0													68	72	71					3																	127335805		2203	4300	6503	SO:0001819	synonymous_variant	4171			X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111			6944	protein-coding gene	gene with protein product	"mitotin"	116945	"minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin)", "MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)"	CCNL1, CDCL1		1710453, 8258304	Standard	NM_004526		Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.1617G>A	chr3.hg19:g.127335805G>A			Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Silent	SNP	ENST00000265056.7	hg19	CCDS3043.1	.	.	.	.	.	.	.	.	.	.	G	10.86	1.469285	0.26423	.	.	ENSG00000073111	ENST00000491422	.	.	.	5.7	3.88	0.44766	.	.	.	.	.	T	0.59348	0.2187	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56763	-0.7925	4	.	.	.	-38.8032	9.3198	0.37957	0.2753:0.0:0.7247:0.0	.	.	.	.	Y	471	.	.	C	+	2	0	MCM2	128818495	0.996000	0.38824	0.979000	0.43373	0.983000	0.72400	0.345000	0.19979	1.379000	0.46325	0.585000	0.79938	TGT		0.597	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1			A	127335805	G	A	127335805	2	1	817	1	0	0	0	0	0	0	0	1	9388	1364	48	2		2	MCM2	3	127335805	Silent	SNP	G	TCGA-Y8-A895-01A-11D-A35Z-10	70655047	127335805	70686625	17	49037											
TLR1	7096	hgsc.bcm.edu	37	4	38799493	38799493	+	Nonsense_Mutation	SNP	A	A	T	rs200631178		TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr4:38799493A>T	ENST00000502213.2	-	3	1189	c.960T>A	c.(958-960)taT>taA	p.Y320*	TLR1_ENST00000308979.2_Nonsense_Mutation_p.Y320*			Q15399	TLR1_HUMAN	toll-like receptor 1	320					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						AAAAGATTTCATAGATATAAC	0.413																																					GBM(5;216 373 40795 46382)											0													58	61	60					4																	38799493		2203	4300	6503	SO:0001587	stop_gained	7096			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.960T>A	chr4.hg19:g.38799493A>T	ENSP00000421259:p.Tyr320*		D1CS39|D1CS41|O15452|Q32MK3|Q32MK4|Q9UG90	Nonsense_Mutation	SNP	ENST00000502213.2	hg19	CCDS33973.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.155114	0.78114	.	.	ENSG00000174125	ENST00000308979;ENST00000502213	.	.	.	4.79	-4.83	0.03161	.	0.000000	0.56097	D	0.000027	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.9609	0.71156	0.6105:0.0:0.3895:0.0	.	.	.	.	X	320	.	ENSP00000354932:Y320X	Y	-	3	2	TLR1	38475888	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.219000	0.09228	-0.993000	0.03467	-1.832000	0.00591	TAT		0.413	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360510.3			T	38799493	A	T	38799493	4	4	817	1	0	0	0	0	0	1	0	0	15954	224	8	5	1404	5	TLR1	4	38799493	Nonsense_Mutation	SNP	A	TCGA-Y8-A895-01A-11D-A35Z-10		38799493	152354783	18	49038											
SHISA3	152573	hgsc.bcm.edu	37	4	42400345	42400345	+	Missense_Mutation	SNP	C	C	A			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr4:42400345C>A	ENST00000319234.4	+	1	490	c.272C>A	c.(271-273)aCt>aAt	p.T91N		NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN	shisa family member 3	91					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						CCAGGCATCACTGCGCGTAAG	0.711																																																0													6	8	7					4																	42400345		2133	4188	6321	SO:0001583	missense	152573			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.272C>A	chr4.hg19:g.42400345C>A	ENSP00000326445:p.Thr91Asn		A0PJX3|Q96EQ5	Missense_Mutation	SNP	ENST00000319234.4	hg19	CCDS33979.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.113082	0.37339	.	.	ENSG00000178343	ENST00000319234	T	0.46451	0.87	4.08	4.08	0.47627	.	0.156884	0.41605	D	0.000850	T	0.30947	0.0781	L	0.34521	1.04	0.33420	D	0.579773	B	0.27498	0.18	B	0.28305	0.088	T	0.37407	-0.9707	10	0.16896	T	0.51	-5.7558	13.2055	0.59793	0.0:0.6802:0.3198:0.0	.	91	A0PJX4	SHSA3_HUMAN	N	91	ENSP00000326445:T91N	ENSP00000326445:T91N	T	+	2	0	SHISA3	42095102	0.988000	0.35896	0.904000	0.35570	0.554000	0.35429	2.805000	0.47939	2.073000	0.62155	0.467000	0.42956	ACT		0.711	SHISA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363539.1	NM_001080505		A	42400345	C	A	42400345	3	1	817	1	0	0	0	0	1	0	0	0	14287	565	20	4	274	4	SHISA3	4	42400345	Missense_Mutation	SNP	C	TCGA-Y8-A895-01A-11D-A35Z-10	3600852	42400345	148753931	19	49039											
CEP135	9662	hgsc.bcm.edu	37	4	56858116	56858116	+	Missense_Mutation	SNP	A	A	T			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr4:56858116A>T	ENST00000257287.4	+	15	1998	c.1874A>T	c.(1873-1875)tAt>tTt	p.Y625F		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	625					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					AGCGAAAAATATGAATTAAAG	0.274																																																0													20	22	22					4																	56858116		2158	4284	6442	SO:0001583	missense	9662			AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"KIAA0635", "centrosomal protein 4"	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.1874A>T	chr4.hg19:g.56858116A>T	ENSP00000257287:p.Tyr625Phe		B2RMY0|O75130|Q58F25|Q9H8H7	Missense_Mutation	SNP	ENST00000257287.4	hg19	CCDS33986.1	.	.	.	.	.	.	.	.	.	.	A	6.409	0.443572	0.12164	.	.	ENSG00000174799	ENST00000257287	T	0.41065	1.01	5.18	1.9	0.25705	.	0.556091	0.21438	N	0.074528	T	0.22936	0.0554	N	0.22421	0.69	0.27898	N	0.939079	B	0.02656	0.0	B	0.06405	0.002	T	0.09400	-1.0676	10	0.34782	T	0.22	.	3.6031	0.08032	0.3009:0.0:0.5027:0.1965	.	625	Q66GS9	CP135_HUMAN	F	625	ENSP00000257287:Y625F	ENSP00000257287:Y625F	Y	+	2	0	CEP135	56552873	0.998000	0.40836	0.999000	0.59377	0.990000	0.78478	0.320000	0.19540	0.530000	0.28619	-0.256000	0.11100	TAT		0.274	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2	NM_025009		T	56858116	A	T	56858116	3	4	817	1	0	0	0	0	1	0	0	0	3249	449	16	5	1928	5	CEP135	4	56858116	Missense_Mutation	SNP	A	TCGA-Y8-A895-01A-11D-A35Z-10	14457771	56858116	134296160	20	49040											
NAIP	4671	hgsc.bcm.edu	37	5	70316605	70316606	+	5'UTR	INS	-	-	A			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr5:70316605_70316606insA	ENST00000517649.1	-	0	167_168				NAIP_ENST00000508426.2_5'Flank|NAIP_ENST00000523981.1_Frame_Shift_Ins_p.L21fs|NAIP_ENST00000194097.4_5'UTR|NAIP_ENST00000503719.2_Frame_Shift_Ins_p.L21fs	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein						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)		AGAAAATATTTAAGGAACTAAA	0.406																																																0																																										SO:0001623	5_prime_UTR_variant	4671			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.-124->T	chr5.hg19:g.70316607_70316607dupA			B9EG72|E9PHD1|O75857|Q13730|Q59GI6|Q8TDZ4|Q99796	Frame_Shift_Ins	INS	ENST00000517649.1	hg19	CCDS4009.1																																																																																				0.406	NAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372649.6	NM_004536		A	70316606	-	A	70316605	6	5	817	0	1	1	1	0	0	0	0	0	10149	1751	61	0		0	NAIP	5	70316605	5'UTR	INS	-	TCGA-Y8-A895-01A-11D-A35Z-10		70316605	110598655	21	49041											
KIF20A	10112	hgsc.bcm.edu	37	5	137519054	137519055	+	Splice_Site	INS	-	-	A			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr5:137519054_137519055insA	ENST00000394894.3	+	8	1253		c.e8+2		KIF20A_ENST00000508792.1_Splice_Site	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A						ATP catabolic process (GO:0006200)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule bundle formation (GO:0001578)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)|transporter activity (GO:0005215)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ATGTGAAAGGTAAAGGAACATG	0.515																																																0																																										SO:0001630	splice_region_variant	10112			AF070672	CCDS4199.1	5q31	2008-02-05	2003-01-13	2003-01-17	ENSG00000112984	ENSG00000112984		"Kinesins"	9787	protein-coding gene	gene with protein product		605664	"RAB6 interacting, kinesin-like (rabkinesin6)"	RAB6KIFL		11416179, 10806357	Standard	NM_005733		Approved		uc003lcj.3	O95235	OTTHUMG00000129195	ENST00000394894.3:c.1027+2->A	chr5.hg19:g.137519057_137519057dupA			B4DL79|D3DQB6	Splice_Site	INS	ENST00000394894.3	hg19	CCDS4199.1																																																																																				0.515	KIF20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251272.1	NM_005733	Intron	A	137519055	-	A	137519054	8	5	817	1	0	1	1	0	0	0	1	0	8288	1652	57	0	1055	0	KIF20A	5	137519054	Splice_Site	INS	-	TCGA-Y8-A895-01A-11D-A35Z-10	67202449	137519054	43396206	22	49042											
GPR151	134391	hgsc.bcm.edu	37	5	145894580	145894580	+	Missense_Mutation	SNP	C	C	T			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr5:145894580C>T	ENST00000311104.2	-	1	1173	c.1097G>A	c.(1096-1098)aGc>aAc	p.S366N		NM_194251.2	NP_919227.2	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	366						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGAGGGAGAGCTGGGTTTCTC	0.512																																					Pancreas(78;420 1386 18535 37114 49710)											0													150	142	145					5																	145894580		2203	4300	6503	SO:0001583	missense	134391			AY255557	CCDS34266.1	5q32	2012-08-21						"GPCR / Class A : Orphans"	23624	protein-coding gene	gene with protein product	"galanin receptor 4"					12679517	Standard	NM_194251		Approved	PGR7, GALR4	uc003lod.1	Q8TDV0		ENST00000311104.2:c.1097G>A	chr5.hg19:g.145894580C>T	ENSP00000308733:p.Ser366Asn		Q86SN8|Q8NGV2	Missense_Mutation	SNP	ENST00000311104.2	hg19	CCDS34266.1	.	.	.	.	.	.	.	.	.	.	C	2.219	-0.378822	0.05000	.	.	ENSG00000173250	ENST00000311104	T	0.75154	-0.91	6.17	1.22	0.21188	.	0.449653	0.23110	N	0.051804	T	0.50188	0.1601	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.25984	-1.0116	10	0.15952	T	0.53	.	6.8972	0.24262	0.0:0.4445:0.3541:0.2014	.	366	Q8TDV0	GP151_HUMAN	N	366	ENSP00000308733:S366N	ENSP00000308733:S366N	S	-	2	0	GPR151	145874773	0.000000	0.05858	0.003000	0.11579	0.084000	0.17831	0.106000	0.15354	0.138000	0.18790	0.655000	0.94253	AGC		0.512	GPR151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373457.1	NM_194251		T	145894580	C	T	145894580	3	4	817	1	0	0	0	0	1	0	0	0	6659	797	28	2	166	2	GPR151	5	145894580	Missense_Mutation	SNP	C	TCGA-Y8-A895-01A-11D-A35Z-10	8375526	145894580	35020680	23	49043											
SLC34A1	6569	hgsc.bcm.edu	37	5	176815315	176815316	+	Frame_Shift_Ins	INS	-	-	TGAGTCCC			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr5:176815315_176815316insTGAGTCCC	ENST00000324417.5	+	8	969_970	c.878_879insTGAGTCCC	c.(877-882)gatgagfs	p.-296fs	SLC34A1_ENST00000512593.1_Frame_Shift_Ins_p.-296fs	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1						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)			GCCACTGGTGATGAGTCCCTGA	0.579																																																0																																										SO:0001589	frameshift_variant	6569			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.879_886dupTGAGTCCC	chr5.hg19:g.176815316_176815323dupTGAGTCCC	ENSP00000321424:p.Leu296fs		B4DPE3	Frame_Shift_Ins	INS	ENST00000324417.5	hg19	CCDS4418.1																																																																																				0.579	SLC34A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253431.1	NM_003052		TGAGTCCC	176815316	-	TGAGTCCC	176815315	7	5	817	1	0	1	1	0	0	0	0	0	14573	333	12	0	904	0	SLC34A1	5	176815315	Frame_Shift_Ins	INS	-	TCGA-Y8-A895-01A-11D-A35Z-10	30920735	176815315	4099945	24	49044											
DSP	1832	hgsc.bcm.edu	37	6	7578083	7578083	+	Silent	SNP	C	C	G			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr6:7578083C>G	ENST00000379802.3	+	21	3290	c.2949C>G	c.(2947-2949)acC>acG	p.T983T	DSP_ENST00000418664.2_Silent_p.T983T	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	983	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)		TCAAGAGGACCATGATTCAGT	0.453																																																0													128	122	124					6																	7578083		2203	4300	6503	SO:0001819	synonymous_variant	1832			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.2949C>G	chr6.hg19:g.7578083C>G			B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Silent	SNP	ENST00000379802.3	hg19	CCDS4501.1																																																																																				0.453	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		G	7578083	C	G	7578083	2	3	817	1	0	0	0	0	0	0	0	1	4783	581	21	4		4	DSP	6	7578083	Silent	SNP	C	TCGA-Y8-A895-01A-11D-A35Z-10		7578083	163536984	25	49045											
ZNF76	7629	hgsc.bcm.edu	37	6	35262232	35262232	+	Splice_Site	SNP	G	G	A			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr6:35262232G>A	ENST00000373953.3	+	13	1760		c.e13-1		ZNF76_ENST00000339411.5_Splice_Site|ZNF76_ENST00000440666.2_Splice_Site	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76						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						TTGTCTTTCAGGTCACAATCA	0.512											OREG0017373	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(52;92 1039 20612 23956 34676)											0													203	155	171					6																	35262232		2203	4300	6503	SO:0001630	splice_region_variant	7629			M91592	CCDS4801.1, CCDS75435.1	6p21.31	2013-01-08	2011-02-25		ENSG00000065029	ENSG00000065029		"Zinc fingers, C2H2-type"	13149	protein-coding gene	gene with protein product		194549	"zinc finger protein 76 (expressed in testis)"	D6S229E		1427894	Standard	XM_005249364		Approved	Zfp523, ZNF523	uc003oki.1	P36508	OTTHUMG00000014564	ENST00000373953.3:c.1495-1G>A	chr6.hg19:g.35262232G>A		854	Q9BQB2	Splice_Site	SNP	ENST00000373953.3	hg19	CCDS4801.1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.875635	0.51695	.	.	ENSG00000065029	ENST00000373953;ENST00000440666;ENST00000339411;ENST00000498555	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.846	0.85981	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF76	35370210	1.000000	0.71417	1.000000	0.80357	0.496000	0.33645	8.445000	0.90326	2.648000	0.89879	0.650000	0.86243	.		0.512	ZNF76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040279.2	NM_003427	Intron	A	35262232	G	A	35262232	5	1	817	1	0	0	0	0	0	0	1	0	18140	1014	35	2	1540	2	ZNF76	6	35262232	Splice_Site	SNP	G	TCGA-Y8-A895-01A-11D-A35Z-10	27684149	35262232	135852835	26	49046											
DNAH8	1769	hgsc.bcm.edu	37	6	38850785	38850785	+	Missense_Mutation	SNP	T	T	G			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr6:38850785T>G	ENST00000359357.3	+	52	7561	c.7307T>G	c.(7306-7308)aTt>aGt	p.I2436S	DNAH8_ENST00000441566.1_Missense_Mutation_p.I2400S|DNAH8_ENST00000449981.2_Missense_Mutation_p.I2653S			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2436	AAA 3. {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						GTTGACAATATTAGAACAAAT	0.338																																																0													89	101	97					6																	38850785		2203	4290	6493	SO:0001583	missense	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.7307T>G	chr6.hg19:g.38850785T>G	ENSP00000352312:p.Ile2436Ser		O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	hg19		.	.	.	.	.	.	.	.	.	.	T	13.60	2.285225	0.40394	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.18960	2.18;2.18;2.18	5.87	5.87	0.94306	.	0.571036	0.18592	N	0.136716	T	0.14399	0.0348	M	0.62154	1.92	0.29889	N	0.825339	B	0.26318	0.146	B	0.32928	0.155	T	0.10428	-1.0630	10	0.87932	D	0	.	12.0815	0.53673	0.0:0.0685:0.0:0.9315	.	2436	Q96JB1	DYH8_HUMAN	S	2641;2641;2436;2400	ENSP00000333363:I2641S;ENSP00000352312:I2436S;ENSP00000402294:I2400S	ENSP00000333363:I2641S	I	+	2	0	DNAH8	38958763	0.056000	0.20664	0.802000	0.32245	0.693000	0.40251	2.250000	0.43178	2.239000	0.73571	0.528000	0.53228	ATT		0.338	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		G	38850785	T	G	38850785	3	3	817	1	0	0	0	0	1	0	0	0	4609	1493	52	5	7505	5	DNAH8	6	38850785	Missense_Mutation	SNP	T	TCGA-Y8-A895-01A-11D-A35Z-10	3588553	38850785	132264282	27	49047											
TFAP2B	7021	hgsc.bcm.edu	37	6	50791382	50791382	+	Missense_Mutation	SNP	G	G	A			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr6:50791382G>A	ENST00000393655.3	+	2	513	c.344G>A	c.(343-345)gGt>gAt	p.G115D	TFAP2B_ENST00000489228.1_3'UTR|TFAP2B_ENST00000263046.4_Missense_Mutation_p.G124D	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	115	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)					CAAGAAGTGGGTTCGGAAGCC	0.697																																					Pancreas(116;1373 2332 5475 10752)											0													33	36	35					6																	50791382		2202	4300	6502	SO:0001583	missense	7021			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.344G>A	chr6.hg19:g.50791382G>A	ENSP00000377265:p.Gly115Asp		Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Missense_Mutation	SNP	ENST00000393655.3	hg19	CCDS4934.2	.	.	.	.	.	.	.	.	.	.	G	24.7	4.562855	0.86335	.	.	ENSG00000008196	ENST00000393655;ENST00000344788;ENST00000263046	D;D;D	0.82619	-1.63;-1.63;-1.63	5.36	4.49	0.54785	.	0.245560	0.40064	N	0.001183	T	0.67401	0.2889	L	0.41961	1.31	0.58432	D	0.999999	B	0.24186	0.099	B	0.17098	0.017	T	0.69131	-0.5226	10	0.56958	D	0.05	-1.1452	14.0148	0.64517	0.073:0.0:0.927:0.0	.	115	Q92481	AP2B_HUMAN	D	115;113;124	ENSP00000377265:G115D;ENSP00000342252:G113D;ENSP00000263046:G124D	ENSP00000263046:G124D	G	+	2	0	TFAP2B	50899341	1.000000	0.71417	0.885000	0.34714	0.992000	0.81027	6.504000	0.73704	1.278000	0.44430	0.563000	0.77884	GGT		0.697	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040886.3	NM_003221		A	50791382	G	A	50791382	3	1	817	1	0	0	0	0	1	0	0	0	15793	1261	44	2	350	2	TFAP2B	6	50791382	Missense_Mutation	SNP	G	TCGA-Y8-A895-01A-11D-A35Z-10	11940597	50791382	120323685	28	49048											
PHIP	55023	hgsc.bcm.edu	37	6	79672856	79672856	+	Missense_Mutation	SNP	A	A	G			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr6:79672856A>G	ENST00000275034.4	-	30	3660	c.3493T>C	c.(3493-3495)Tgt>Cgt	p.C1165R	PHIP_ENST00000479165.1_5'UTR|AL356776.1_ENST00000516160.2_RNA	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1165					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)		ATTCTTTCACATTCTTCATCC	0.403																																																0													285	268	274					6																	79672856		2203	4300	6503	SO:0001583	missense	55023			AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	15673	protein-coding gene	gene with protein product	"DDB1 and CUL4 associated factor 14"	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.3493T>C	chr6.hg19:g.79672856A>G	ENSP00000275034:p.Cys1165Arg		A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000275034.4	hg19	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.626396	0.87560	.	.	ENSG00000146247	ENST00000275034	T	0.17054	2.3	5.89	5.89	0.94794	Bromodomain (3);	0.000000	0.85682	D	0.000000	T	0.42539	0.1207	M	0.89601	3.045	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	T	0.53158	-0.8478	9	.	.	.	-15.5431	15.4894	0.75593	1.0:0.0:0.0:0.0	.	1165;1165	A7J992;Q8WWQ0	.;PHIP_HUMAN	R	1165	ENSP00000275034:C1165R	.	C	-	1	0	PHIP	79729575	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.962000	0.93254	2.250000	0.74265	0.455000	0.32223	TGT		0.403	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			G	79672856	A	G	79672856	3	3	817	1	0	0	0	0	1	0	0	0	11844	217	8	3	2016	3	PHIP	6	79672856	Missense_Mutation	SNP	A	TCGA-Y8-A895-01A-11D-A35Z-10	28881474	79672856	91442211	29	49049											
BCLAF1	9774	hgsc.bcm.edu	37	6	136597062	136597062	+	Missense_Mutation	SNP	C	C	T			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr6:136597062C>T	ENST00000531224.1	-	5	1853	c.1601G>A	c.(1600-1602)aGg>aAg	p.R534K	BCLAF1_ENST00000527759.1_Missense_Mutation_p.R532K|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R532K|BCLAF1_ENST00000392348.2_Missense_Mutation_p.R532K|BCLAF1_ENST00000530767.1_Missense_Mutation_p.R361K|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R534K	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	534					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)		CATTTTGATCCTAAGTGGGCT	0.428																																					Colon(142;1534 1789 5427 7063 28491)											0													210	212	211					6																	136597062		2203	4300	6503	SO:0001583	missense	9774			AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.1601G>A	chr6.hg19:g.136597062C>T	ENSP00000435210:p.Arg534Lys		A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	hg19	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.184251	0.38609	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.13089	2.62;2.62;2.62;2.62;2.62;2.62;2.62	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000001	T	0.04998	0.0134	N	0.08118	0	0.80722	D	1	P;B;P;B	0.47350	0.894;0.092;0.894;0.192	P;B;P;B	0.53988	0.739;0.043;0.739;0.123	T	0.19192	-1.0313	10	0.05833	T	0.94	-8.9698	13.0391	0.58889	0.0:0.9261:0.0:0.0739	.	532;532;534;361	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	K	534;532;534;361;532;532;534	ENSP00000435210:R534K;ENSP00000229446:R532K;ENSP00000435441:R534K;ENSP00000436501:R361K;ENSP00000434826:R532K;ENSP00000376159:R532K;ENSP00000431734:R534K	ENSP00000229446:R532K	R	-	2	0	BCLAF1	136638755	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.269000	0.43346	2.747000	0.94245	0.460000	0.39030	AGG		0.428	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		T	136597062	C	T	136597062	3	4	817	1	0	0	0	0	1	0	0	0	1383	681	24	2	1197	2	BCLAF1	6	136597062	Missense_Mutation	SNP	C	TCGA-Y8-A895-01A-11D-A35Z-10	56924206	136597062	34518005	30	49050											
GRM1	2911	hgsc.bcm.edu	37	6	146720170	146720170	+	Silent	SNP	C	C	T			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr6:146720170C>T	ENST00000282753.1	+	7	2230	c.1995C>T	c.(1993-1995)ggC>ggT	p.G665G	GRM1_ENST00000492807.2_Silent_p.G665G|GRM1_ENST00000355289.4_Silent_p.G665G|GRM1_ENST00000392299.2_Silent_p.G665G|GRM1_ENST00000507907.1_Silent_p.G665G|GRM1_ENST00000361719.2_Silent_p.G665G			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	665					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)		TCTTGGTTGGCCTCTCCTCTG	0.522																																																0													325	300	308					6																	146720170		2203	4300	6503	SO:0001819	synonymous_variant	2911			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.1995C>T	chr6.hg19:g.146720170C>T			B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Silent	SNP	ENST00000282753.1	hg19	CCDS5209.1																																																																																				0.522	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		T	146720170	C	T	146720170	2	4	817	1	0	0	0	0	0	0	0	1	6798	726	26	2		2	GRM1	6	146720170	Silent	SNP	C	TCGA-Y8-A895-01A-11D-A35Z-10	10123108	146720170	24394897	31	49051											
SYNE1	23345	hgsc.bcm.edu	37	6	152675910	152675910	+	Missense_Mutation	SNP	C	C	G			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr6:152675910C>G	ENST00000367255.5	-	67	11411	c.10810G>C	c.(10810-10812)Gag>Cag	p.E3604Q	SYNE1_ENST00000341594.5_Missense_Mutation_p.E3575Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.E3604Q|SYNE1_ENST00000423061.1_Missense_Mutation_p.E3611Q|SYNE1_ENST00000448038.1_Missense_Mutation_p.E3611Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3604					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)		AACTTTTGCTCCATTAGCCTC	0.488										HNSCC(10;0.0054)																																						0													206	181	190					6																	152675910		2203	4300	6503	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.10810G>C	chr6.hg19:g.152675910C>G	ENSP00000356224:p.Glu3604Gln		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	hg19	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	15.34	2.803502	0.50315	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.34859	1.34;1.34;1.34;1.34;1.34	5.26	5.26	0.73747	.	0.000000	0.64402	D	0.000017	T	0.47507	0.1449	M	0.66939	2.045	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.71656	0.959;0.959;0.959;0.974	T	0.25257	-1.0137	10	0.25751	T	0.34	.	16.2563	0.82519	0.0:0.8675:0.1325:0.0	.	3604;3604;3604;3611	B7ZBC3;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	Q	3604;3611;3604;3611;3575	ENSP00000356224:E3604Q;ENSP00000396024:E3611Q;ENSP00000265368:E3604Q;ENSP00000390975:E3611Q;ENSP00000341887:E3575Q	ENSP00000265368:E3604Q	E	-	1	0	SYNE1	152717603	1.000000	0.71417	1.000000	0.80357	0.535000	0.34838	5.740000	0.68629	2.607000	0.88179	0.555000	0.69702	GAG		0.488	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		G	152675910	C	G	152675910	3	3	817	1	0	0	0	0	1	0	0	0	15450	864	30	4	15976	4	SYNE1	6	152675910	Missense_Mutation	SNP	C	TCGA-Y8-A895-01A-11D-A35Z-10	5955740	152675910	18439157	32	49052											
FAM20C	56975	hgsc.bcm.edu	37	7	208912	208912	+	Missense_Mutation	SNP	G	G	A			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr7:208912G>A	ENST00000313766.5	+	3	1030	c.799G>A	c.(799-801)Ggc>Agc	p.G267S		NM_020223.3	NP_064608.2	Q8IXL6	DMP4_HUMAN	family with sequence similarity 20, member C	267					dentinogenesis (GO:0097187)|enamel mineralization (GO:0070166)|odontoblast differentiation (GO:0071895)|osteoclast maturation (GO:0036179)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|protein phosphorylation (GO:0006468)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of phosphorus metabolic process (GO:0051174)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(2)|urinary_tract(1)	4		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.57e-17)|Epithelial(4;1.26e-16)|all cancers(6;4.79e-14)		GAAGTCGGGGGGCACGCAGCT	0.597																																																0													44	52	49					7																	208912		2079	4193	6272	SO:0001583	missense	56975			BC040074	CCDS47522.1	7p22.3	2012-11-29			ENSG00000177706	ENSG00000177706			22140	protein-coding gene	gene with protein product	"dentin matrix protein 4"	611061				17369251, 17924334	Standard	NM_020223		Approved	IMAGE:4942737, DKFZp547D065, DMP4	uc003sip.3	Q8IXL6	OTTHUMG00000151401	ENST00000313766.5:c.799G>A	chr7.hg19:g.208912G>A	ENSP00000322323:p.Gly267Ser		A4D2Q5|L8B5W8|Q5I0W9|Q7Z4I0|Q9NPT2	Missense_Mutation	SNP	ENST00000313766.5	hg19	CCDS47522.1	.	.	.	.	.	.	.	.	.	.	G	33	5.198539	0.94997	.	.	ENSG00000177706	ENST00000313766	T	0.75704	-0.96	5.1	5.1	0.69264	.	0.802912	0.11006	N	0.610002	D	0.89938	0.6860	M	0.91561	3.22	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89700	0.3904	10	0.87932	D	0	.	17.2657	0.87086	0.0:0.0:1.0:0.0	.	267	Q8IXL6	DMP4_HUMAN	S	267	ENSP00000322323:G267S	ENSP00000322323:G267S	G	+	1	0	FAM20C	303995	1.000000	0.71417	0.850000	0.33497	0.941000	0.58515	8.209000	0.89751	2.369000	0.80426	0.561000	0.74099	GGC		0.597	FAM20C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322476.2	NM_020223		A	208912	G	A	208912	3	1	817	1	0	0	0	0	1	0	0	0	5541	1232	43	2	809	2	FAM20C	7	208912	Missense_Mutation	SNP	G	TCGA-Y8-A895-01A-11D-A35Z-10		208912	158929751	33	49053											
RAPGEF5	9771	hgsc.bcm.edu	37	7	22200164	22200164	+	Nonsense_Mutation	SNP	G	G	A			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr7:22200164G>A	ENST00000401957.2	-	4	836	c.589C>T	c.(589-591)Caa>Taa	p.Q197*	RAPGEF5_ENST00000344041.6_Nonsense_Mutation_p.Q347*			Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	197	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				nervous system development (GO:0007399)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)	GTP-dependent protein binding (GO:0030742)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						AGTATCTTTTGAAATTCTTTC	0.318																																																0													51	46	48					7																	22200164		1774	3985	5759	SO:0001587	stop_gained	9771			D87467	CCDS55093.1	7p15.3	2004-03-01			ENSG00000136237	ENSG00000136237			16862	protein-coding gene	gene with protein product	"M-Ras-regulated GEF"	609527				9039502, 10486569	Standard	NM_012294		Approved	KIAA0277, GFR, MR-GEF	uc003svg.3	Q92565	OTTHUMG00000152525	ENST00000401957.2:c.589C>T	chr7.hg19:g.22200164G>A	ENSP00000384044:p.Gln197*		A4D140|Q8IXU5	Nonsense_Mutation	SNP	ENST00000401957.2	hg19		.	.	.	.	.	.	.	.	.	.	G	40	8.118746	0.98662	.	.	ENSG00000136237	ENST00000344041;ENST00000425852;ENST00000258735;ENST00000401957;ENST00000458533	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	20.5605	0.99326	0.0:0.0:1.0:0.0	.	.	.	.	X	347;197;197;197;85	.	ENSP00000258735:Q197X	Q	-	1	0	RAPGEF5	22166689	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.518000	0.90559	2.868000	0.98415	0.637000	0.83480	CAA		0.318	RAPGEF5-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000326590.2	NM_012294		A	22200164	G	A	22200164	4	1	817	1	0	0	0	0	0	1	0	0	13053	1299	45	2	1205	2	RAPGEF5	7	22200164	Nonsense_Mutation	SNP	G	TCGA-Y8-A895-01A-11D-A35Z-10	21991252	22200164	136938499	34	49054											
TARP	6966	hgsc.bcm.edu	37	7	38305038	38305038	+	RNA	SNP	T	T	C			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr7:38305038T>C	ENST00000443402.2	-	0	241					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1	P0CF51	TRGC1_HUMAN	T cell receptor gamma constant 1							integral component of membrane (GO:0016021)											CTTTGTCCAGTGACTTTTCTG	0.398																																																0													196	183	187					7																	38305038		1843	4101	5944			0			M14996		7p14	2012-02-07			ENSG00000211689	ENSG00000211689		"T cell receptors / TRG locus"	12275	other	T cell receptor gene	"T-cell receptor, gamma, constant region C1"	186970		TCRGC1		2879283	Standard	NG_001336		Approved	C1		P0CF51	OTTHUMG00000155219		chr7.hg19:g.38305038T>C				Silent	SNP	ENST00000443402.2	hg19																																																																																					0.398	TRGC1-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000338825.3	NG_001336		C	38305038	T	C	38305038	1	2	817	0	1	0	0	0	0	0	0	0	15563	1683	59	3		3	TARP	7	38305038	RNA	SNP	T	TCGA-Y8-A895-01A-11D-A35Z-10	16104874	38305038	120833625	35	49055											
C7orf63	79846	hgsc.bcm.edu	37	7	89936365	89936368	+	Frame_Shift_Del	DEL	AGCC	AGCC	-			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	AGCC	AGCC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr7:89936365_89936368delAGCC	ENST00000389297.4	+	20	2667_2670	c.2416_2419delAGCC	c.(2416-2421)agccaafs	p.SQ806fs	C7orf63_ENST00000497910.1_Frame_Shift_Del_p.SQ788fs|C7orf63_ENST00000316089.8_Frame_Shift_Del_p.SQ760fs	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		806										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						TATAATTGAAAGCCAAGCATGCCA	0.373																																																0																																										SO:0001589	frameshift_variant	79846																														ENST00000389297.4:c.2416_2419delAGCC	chr7.hg19:g.89936365_89936368delAGCC	ENSP00000373948:p.Ser806fs		A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Frame_Shift_Del	DEL	ENST00000389297.4	hg19	CCDS43613.2																																																																																				0.373	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139891.4			-	89936368	AGCC	-	89936365	7	5	817	1	0	1	0	1	0	0	0	0	2411	72	3	0	2494	0	C7orf63	7	89936365	Frame_Shift_Del	DEL	AGCC	TCGA-Y8-A895-01A-11D-A35Z-10	51631327	89936365	69202298	36	49056											
TRRAP	8295	hgsc.bcm.edu	37	7	98562256	98562256	+	Silent	SNP	C	C	A			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr7:98562256C>A	ENST00000359863.4	+	47	7022	c.6813C>A	c.(6811-6813)acC>acA	p.T2271T	TRRAP_ENST00000446306.3_Silent_p.T2252T|TRRAP_ENST00000355540.3_Silent_p.T2253T	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2271	Interaction with TP53.				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)			TTTTAGGGACCCTTATGATCC	0.438																																																0													102	97	99					7																	98562256		2203	4300	6503	SO:0001819	synonymous_variant	8295			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.6813C>A	chr7.hg19:g.98562256C>A			A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	hg19	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	C	5.374	0.254196	0.10185	.	.	ENSG00000196367	ENST00000456197	.	.	.	5.17	-7.53	0.01336	.	.	.	.	.	T	0.35008	0.0917	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39820	-0.9595	4	.	.	.	.	1.8561	0.03179	0.3258:0.1995:0.3247:0.15	.	.	.	.	H	1993	.	.	P	+	2	0	TRRAP	98400192	0.004000	0.15560	0.082000	0.20525	0.804000	0.45430	-1.218000	0.02976	-1.446000	0.01945	-0.717000	0.03617	CCC		0.438	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		A	98562256	C	A	98562256	2	1	817	1	0	0	0	0	0	0	0	1	16606	610	22	4		4	TRRAP	7	98562256	Silent	SNP	C	TCGA-Y8-A895-01A-11D-A35Z-10	8625891	98562256	60576407	37	49057											
PLAG1	5324	hgsc.bcm.edu	37	8	57079249	57079250	+	Frame_Shift_Ins	INS	-	-	A			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr8:57079249_57079250insA	ENST00000316981.3	-	5	1534_1535	c.1055_1056insT	c.(1054-1056)ttafs	p.L352fs	PLAG1_ENST00000429357.2_Frame_Shift_Ins_p.L352fs|PLAG1_ENST00000423799.2_Frame_Shift_Ins_p.L270fs	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	352	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Repression domain; contains 3 sumoylation motifs and massively decrease transcription activity.				gland morphogenesis (GO:0022612)|multicellular organism growth (GO:0035264)|negative regulation of gene expression (GO:0010629)|organ growth (GO:0035265)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|transcription from RNA polymerase II promoter (GO:0006366)	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)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			TTTCCCCCTTTAATGGCTGTTC	0.426			T	"TCEA1, LIFR, CTNNB1, CHCHD7"	salivary adenoma																																		Dom	yes		8	8q12	5324	pleiomorphic adenoma gene 1		E	0																																										SO:0001589	frameshift_variant	5324			U65002	CCDS6165.1, CCDS47860.1	8q12	2010-07-30				ENSG00000181690		"Zinc fingers, C2H2-type"	9045	protein-coding gene	gene with protein product		603026				9268638	Standard	NM_002655		Approved	ZNF912	uc010lyi.3	Q6DJT9		ENST00000316981.3:c.1056dupT	chr8.hg19:g.57079251_57079251dupA	ENSP00000325546:p.Leu352fs		B4DLC2|Q59GH8|Q9Y4L2	Frame_Shift_Ins	INS	ENST00000316981.3	hg19	CCDS6165.1																																																																																				0.426	PLAG1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378212.1	NM_002655		A	57079250	-	A	57079249	7	5	817	1	0	1	1	0	0	0	0	0	12020	1751	61	0	450	0	PLAG1	8	57079249	Frame_Shift_Ins	INS	-	TCGA-Y8-A895-01A-11D-A35Z-10		57079249	89284773	38	49058											
E2F5	1875	hgsc.bcm.edu	37	8	86119659	86119659	+	Splice_Site	SNP	G	G	C			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr8:86119659G>C	ENST00000416274.2	+	5	584		c.e5-1		E2F5_ENST00000521429.1_Splice_Site|E2F5_ENST00000519128.1_Splice_Site|E2F5_ENST00000418930.2_Splice_Site|E2F5_ENST00000256117.5_Splice_Site|E2F5_ENST00000517476.1_Splice_Site	NM_001083588.1|NM_001951.3	NP_001077057.1|NP_001942.2	Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding						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 cycle (GO:0051726)|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)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						TTTTTGACCAGGTGATACACT	0.383																																																0													39	39	39					8																	86119659		1808	4065	5873	SO:0001630	splice_region_variant	1875			X86097	CCDS47885.1, CCDS47886.1, CCDS55254.1	8q21.2	2004-01-29			ENSG00000133740	ENSG00000133740			3119	protein-coding gene	gene with protein product		600967				7892279	Standard	NM_001083588		Approved		uc003ycz.4	Q15329	OTTHUMG00000164785	ENST00000416274.2:c.551-1G>C	chr8.hg19:g.86119659G>C			E9PBN9|Q16601|Q92756	Splice_Site	SNP	ENST00000416274.2	hg19	CCDS47885.1	.	.	.	.	.	.	.	.	.	.	G	18.95	3.730840	0.69074	.	.	ENSG00000133740	ENST00000418930;ENST00000256117;ENST00000416274;ENST00000517476;ENST00000521429;ENST00000518234	.	.	.	5.98	5.98	0.97165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.4366	0.99092	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	E2F5	86306911	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.029000	0.76477	2.843000	0.97960	0.585000	0.79938	.		0.383	E2F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380274.1	NM_001951	Intron	C	86119659	G	C	86119659	5	2	817	1	0	0	0	0	0	0	1	0	4872	1014	35	4	568	4	E2F5	8	86119659	Splice_Site	SNP	G	TCGA-Y8-A895-01A-11D-A35Z-10	29040410	86119659	60244363	39	49059											
ANGPT1	284	hgsc.bcm.edu	37	8	108509678	108509679	+	IGR	DNP	GA	GA	TC			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	G|A	G|A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr8:108509678_108509679GA>TC								ANGPT1 (160928 upstream) : RNA5SP275 (387042 downstream)														p.Q37K(1)									TGCCCATGTTGAATCCGGTTAT	0.48																																																1	Substitution - Missense(1)	large_intestine(1)																																								SO:0001628	intergenic_variant	284																															chr8.hg19:g.108509678_108509679delinsTC				Missense_Mutation	SNP		hg19																																																																																				0	0.48									TC	108509679	GA	TC	108509678	1	4	817	0	1	0	0	0	0	0	0	0	610	1299	45	4		4	ANGPT1	8	108509678	IGR	DNP	GA	TCGA-Y8-A895-01A-11D-A35Z-10	22390019	108509678	37854344	40	49060											
CSMD3	114788	hgsc.bcm.edu	37	8	113662424	113662425	+	Frame_Shift_Ins	INS	-	-	T			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr8:113662424_113662425insT	ENST00000297405.5	-	19	3402_3403	c.3158_3159insA	c.(3157-3159)aacfs	p.N1053fs	CSMD3_ENST00000455883.2_Frame_Shift_Ins_p.N949fs|CSMD3_ENST00000343508.3_Frame_Shift_Ins_p.N1013fs|CSMD3_ENST00000352409.3_Frame_Shift_Ins_p.N1053fs	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1053	Sushi 5. {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						TCCACCAGTGGTTTTTTTCGCA	0.376										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																						0																																										SO:0001589	frameshift_variant	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.3159dupA	chr8.hg19:g.113662431_113662431dupT	ENSP00000297405:p.Asn1053fs		Q96PZ3	Frame_Shift_Ins	INS	ENST00000297405.5	hg19	CCDS6315.1																																																																																				0.376	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		T	113662425	-	T	113662424	7	5	817	1	0	1	1	0	0	0	0	0	3948	1252	44	0	8176	0	CSMD3	8	113662424	Frame_Shift_Ins	INS	-	TCGA-Y8-A895-01A-11D-A35Z-10	5152746	113662424	32701598	41	49061											
SMU1	55234	hgsc.bcm.edu	37	9	33048246	33048246	+	Missense_Mutation	SNP	C	C	A			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr9:33048246C>A	ENST00000397149.3	-	11	1351	c.1301G>T	c.(1300-1302)aGc>aTc	p.S434I	SMU1_ENST00000536631.1_Missense_Mutation_p.S273I	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)	434						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		AGAACTGAAGCTTCTGACAAT	0.448																																																0													118	107	111					9																	33048246		2203	4300	6503	SO:0001583	missense	55234			AK001667	CCDS6534.1	9p12	2013-01-10			ENSG00000122692	ENSG00000122692		"WD repeat domain containing"	18247	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 57"					11438655, 11410362	Standard	NM_018225		Approved	SMU-1, FLJ10805, BWD, fSAP57	uc003zsf.1	Q2TAY7	OTTHUMG00000019757	ENST00000397149.3:c.1301G>T	chr9.hg19:g.33048246C>A	ENSP00000380336:p.Ser434Ile		B4E3L0|Q9BU59|Q9HA96|Q9NVD1	Missense_Mutation	SNP	ENST00000397149.3	hg19	CCDS6534.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.362286	0.82353	.	.	ENSG00000122692	ENST00000397149;ENST00000536631	T;T	0.81415	-1.49;-1.49	5.25	5.25	0.73442	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.036452	0.85682	D	0.000000	D	0.89047	0.6604	M	0.90595	3.13	0.80722	D	1	P;D;P	0.56287	0.737;0.975;0.737	B;P;B	0.53549	0.374;0.729;0.374	D	0.91156	0.4957	10	0.66056	D	0.02	-19.5603	16.6926	0.85326	0.0:1.0:0.0:0.0	.	434;273;434	A0MNN4;B4E3L0;Q2TAY7	.;.;SMU1_HUMAN	I	434;273	ENSP00000380336:S434I;ENSP00000443639:S273I	ENSP00000380336:S434I	S	-	2	0	SMU1	33038246	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.832000	0.62759	2.596000	0.87737	0.591000	0.81541	AGC		0.448	SMU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052022.1	NM_018225		A	33048246	C	A	33048246	3	1	817	1	0	0	0	0	1	0	0	0	14823	797	28	4	248	4	SMU1	9	33048246	Missense_Mutation	SNP	C	TCGA-Y8-A895-01A-11D-A35Z-10		33048246	108165185	42	49062											
GNA14	9630	hgsc.bcm.edu	37	9	80043875	80043875	+	Frame_Shift_Del	DEL	A	A	-			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr9:80043875delA	ENST00000341700.6	-	5	1184	c.671delT	c.(670-672)ttcfs	p.F224fs	GNA14_ENST00000464095.1_5'UTR	NM_004297.3	NP_004288.1	O95837	GNA14_HUMAN	guanine nucleotide binding protein (G protein), alpha 14	224					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						AGCAACCAAGAAAATAATGGA	0.502																																																0													199	188	192					9																	80043875		2203	4300	6503	SO:0001589	frameshift_variant	9630			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.671delT	chr9.hg19:g.80043875delA	ENSP00000365807:p.Phe224fs		B1ALW3	Frame_Shift_Del	DEL	ENST00000341700.6	hg19	CCDS6657.1																																																																																				0.502	GNA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052759.1			-	80043875	A	-	80043875	7	5	817	1	0	1	0	1	0	0	0	0	6504	246	9	0	408	0	GNA14	9	80043875	Frame_Shift_Del	DEL	A	TCGA-Y8-A895-01A-11D-A35Z-10	46995629	80043875	61169556	43	49063											
FAM13C	220965	hgsc.bcm.edu	37	10	61023877	61023877	+	Missense_Mutation	SNP	T	T	C			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr10:61023877T>C	ENST00000373868.2	-	9	1079	c.992A>G	c.(991-993)aAt>aGt	p.N331S	FAM13C_ENST00000422313.2_Missense_Mutation_p.N331S|FAM13C_ENST00000419214.2_Intron|FAM13C_ENST00000277705.6_Missense_Mutation_p.N352S|FAM13C_ENST00000442566.3_Missense_Mutation_p.N352S|FAM13C_ENST00000468840.2_Missense_Mutation_p.N248S|FAM13C_ENST00000373867.3_Missense_Mutation_p.N248S|FAM13C_ENST00000435852.2_Missense_Mutation_p.N331S	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	331										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AGCCAAATCATTCATCCATTT	0.448																																																0													142	128	133					10																	61023877		2203	4300	6503	SO:0001583	missense	220965			U79304	CCDS31207.1, CCDS44406.1, CCDS7255.1, CCDS53538.1	10q21	2009-09-15	2009-01-20	2009-01-20	ENSG00000148541	ENSG00000148541			19371	protein-coding gene	gene with protein product			"family with sequence similarity 13, member C1"	FAM13C1			Standard	NM_001001971		Approved		uc001jkn.3	Q8NE31	OTTHUMG00000018277	ENST00000373868.2:c.992A>G	chr10.hg19:g.61023877T>C	ENSP00000362975:p.Asn331Ser		B7ZB77|Q5T631|Q6P2M3|Q99787	Missense_Mutation	SNP	ENST00000373868.2	hg19	CCDS7255.1	.	.	.	.	.	.	.	.	.	.	T	12.24	1.878710	0.33162	.	.	ENSG00000148541	ENST00000373867;ENST00000373868;ENST00000442566;ENST00000277705;ENST00000468840;ENST00000435852;ENST00000422313;ENST00000468696	T;T;T;T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02	5.93	4.8	0.61643	.	0.064498	0.64402	N	0.000007	D	0.84786	0.5549	M	0.64997	1.995	0.35420	D	0.793198	D;P;P;D	0.89917	1.0;0.663;0.89;1.0	D;B;P;D	0.85130	0.997;0.286;0.6;0.997	D	0.86877	0.2039	10	0.34782	T	0.22	-23.903	11.962	0.53013	0.0:0.0675:0.0:0.9325	.	331;248;331;331	B7Z2K3;B7ZB77;Q8NE31-2;Q8NE31	.;.;.;FA13C_HUMAN	S	248;331;352;352;248;331;331;109	ENSP00000362974:N248S;ENSP00000362975:N331S;ENSP00000395661:N352S;ENSP00000277705:N352S;ENSP00000423896:N248S;ENSP00000392302:N331S;ENSP00000400241:N331S;ENSP00000445068:N109S	ENSP00000277705:N352S	N	-	2	0	FAM13C	60693883	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.771000	0.55318	1.067000	0.40740	-0.256000	0.11100	AAT		0.448	FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048162.2			C	61023877	T	C	61023877	3	2	817	1	0	0	0	0	1	0	0	0	5456	1493	52	3	789	3	FAM13C	10	61023877	Missense_Mutation	SNP	T	TCGA-Y8-A895-01A-11D-A35Z-10		61023877	74510870	44	49064											
GLUD1	2746	hgsc.bcm.edu	37	10	88819991	88819991	+	Missense_Mutation	SNP	G	G	T			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr10:88819991G>T	ENST00000277865.4	-	9	1301	c.1205C>A	c.(1204-1206)gCt>gAt	p.A402D	GLUD1_ENST00000544149.1_Missense_Mutation_p.A269D|GLUD1_ENST00000537649.1_Missense_Mutation_p.A235D|GLUD1_ENST00000465164.1_5'Flank	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN	glutamate dehydrogenase 1	402					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)	GGCACCTTCAGCAATGATCTG	0.443																																																0													137	135	136					10																	88819991		2203	4296	6499	SO:0001583	missense	2746			M20867	CCDS7382.1	10q23.2	2010-03-17			ENSG00000148672	ENSG00000148672	1.4.1.3		4335	protein-coding gene	gene with protein product		138130		GLUD		2757358	Standard	NM_005271		Approved	GDH	uc001keh.3	P00367	OTTHUMG00000018666	ENST00000277865.4:c.1205C>A	chr10.hg19:g.88819991G>T	ENSP00000277865:p.Ala402Asp		B3KV55|B4DGN5|Q5TBU3	Missense_Mutation	SNP	ENST00000277865.4	hg19	CCDS7382.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.996133	0.93167	.	.	ENSG00000148672	ENST00000277865;ENST00000394415;ENST00000537649;ENST00000535802;ENST00000513510;ENST00000544149	D;D;D	0.97186	-4.28;-4.28;-4.28	5.11	5.11	0.69529	Glutamate/phenylalanine/leucine/valine dehydrogenase, C-terminal (2);NAD(P)-binding domain (1);	0.051018	0.85682	N	0.000000	D	0.99121	0.9697	H	0.98256	4.185	0.80722	D	1	D;D	0.71674	0.994;0.998	D;D	0.70016	0.967;0.967	D	0.99032	1.0821	10	0.72032	D	0.01	.	18.9599	0.92674	0.0:0.0:1.0:0.0	.	269;402	B4DGN5;P00367	.;DHE3_HUMAN	D	402;359;235;101;334;269	ENSP00000277865:A402D;ENSP00000439291:A235D;ENSP00000444732:A269D	ENSP00000277865:A402D	A	-	2	0	GLUD1	88809971	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.414000	0.97362	2.541000	0.85698	0.558000	0.71614	GCT		0.443	GLUD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049188.1	NM_005271		T	88819991	G	T	88819991	3	4	817	1	0	0	0	0	1	0	0	0	6478	971	34	4	491	4	GLUD1	10	88819991	Missense_Mutation	SNP	G	TCGA-Y8-A895-01A-11D-A35Z-10	27796114	88819991	46714756	45	49065											
HMX3	340784	hgsc.bcm.edu	37	10	124896686	124896686	+	Missense_Mutation	SNP	C	C	G			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr10:124896686C>G	ENST00000357878.5	+	2	602	c.513C>G	c.(511-513)agC>agG	p.S171R		NM_001105574.1	NP_001099044.1	A6NHT5	HMX3_HUMAN	H6 family homeobox 3	171					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)		ACTCCAAGAGCCCGGACGAGA	0.682																																																0													14	17	16					10																	124896686		1934	4150	6084	SO:0001583	missense	340784				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.513C>G	chr10.hg19:g.124896686C>G	ENSP00000350549:p.Ser171Arg		A8MU06	Missense_Mutation	SNP	ENST00000357878.5	hg19	CCDS41575.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.508747	0.64410	.	.	ENSG00000188620	ENST00000357878	D	0.91894	-2.93	4.52	3.62	0.41486	.	0.000000	0.85682	D	0.000000	D	0.88983	0.6586	L	0.27053	0.805	0.45118	D	0.998134	D	0.65815	0.995	P	0.53185	0.72	D	0.85166	0.0995	10	0.17369	T	0.5	.	12.1028	0.53794	0.0:0.9151:0.0:0.0849	.	171	A6NHT5	HMX3_HUMAN	R	171	ENSP00000350549:S171R	ENSP00000350549:S171R	S	+	3	2	HMX3	124886676	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.512000	0.53407	1.122000	0.41944	0.455000	0.32223	AGC		0.682	HMX3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050842.4	XM_291716		G	124896686	C	G	124896686	3	3	817	1	0	0	0	0	1	0	0	0	7250	738	26	4	519	4	HMX3	10	124896686	Missense_Mutation	SNP	C	TCGA-Y8-A895-01A-11D-A35Z-10	36076695	124896686	10638061	46	49066											
EPS8L2	64787	hgsc.bcm.edu	37	11	720135	720135	+	Missense_Mutation	SNP	A	A	G			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr11:720135A>G	ENST00000533256.1	+	6	614	c.239A>G	c.(238-240)cAg>cGg	p.Q80R	AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000526198.1_Missense_Mutation_p.Q80R|EPS8L2_ENST00000530636.1_Missense_Mutation_p.Q80R|EPS8L2_ENST00000318562.8_Missense_Mutation_p.Q80R			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	80	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	actin binding (GO:0003779)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AAGCTGGTGCAGCTGAGCTCC	0.622																																																0													78	59	65					11																	720135		2203	4300	6503	SO:0001583	missense	64787			AF318331	CCDS31328.1	11p15.5	2008-02-05				ENSG00000177106			21296	protein-coding gene	gene with protein product		614988				12620401	Standard	NM_022772		Approved	FLJ21935, FLJ22171, MGC3088	uc001lqt.3	Q9H6S3		ENST00000533256.1:c.239A>G	chr11.hg19:g.720135A>G	ENSP00000435585:p.Gln80Arg		B3KSX1|B7ZKL3|Q53GM8|Q8WYW7|Q96K06|Q9H6K9	Missense_Mutation	SNP	ENST00000533256.1	hg19	CCDS31328.1	.	.	.	.	.	.	.	.	.	.	A	16.94	3.261711	0.59431	.	.	ENSG00000177106	ENST00000524763;ENST00000318562;ENST00000533256;ENST00000533500;ENST00000531348;ENST00000530636;ENST00000526198	T;T;T;T;T;T;T	0.30981	1.51;2.0;2.0;1.51;1.51;2.0;1.51	3.81	3.81	0.43845	Phosphotyrosine interaction domain (1);Pleckstrin homology-type (1);Tensin phosphotyrosine-binding domain (1);	0.079131	0.51477	D	0.000096	T	0.36608	0.0973	L	0.49350	1.555	0.37273	D	0.907506	P;P;B	0.45827	0.608;0.867;0.379	B;P;B	0.50082	0.171;0.63;0.171	T	0.36915	-0.9728	10	0.39692	T	0.17	-27.9678	11.9851	0.53142	1.0:0.0:0.0:0.0	.	80;108;80	B7ZKL3;B4DFD2;Q9H6S3	.;.;ES8L2_HUMAN	R	80	ENSP00000435128:Q80R;ENSP00000320828:Q80R;ENSP00000435585:Q80R;ENSP00000433223:Q80R;ENSP00000432765:Q80R;ENSP00000436035:Q80R;ENSP00000436230:Q80R	ENSP00000320828:Q80R	Q	+	2	0	EPS8L2	710135	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.101000	0.50283	1.726000	0.51525	0.418000	0.28097	CAG		0.622	EPS8L2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382344.1	NM_022772		G	720135	A	G	720135	3	3	817	1	0	0	0	0	1	0	0	0	5198	188	7	3	253	3	EPS8L2	11	720135	Missense_Mutation	SNP	A	TCGA-Y8-A895-01A-11D-A35Z-10		720135	134286381	47	49067											
HIPK3	10114	hgsc.bcm.edu	37	11	33373178	33373178	+	Silent	SNP	T	T	C			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr11:33373178T>C	ENST00000303296.4	+	15	3137	c.2832T>C	c.(2830-2832)agT>agC	p.S944S	HIPK3_ENST00000525975.1_Silent_p.S923S|AL122015.1_ENST00000411202.1_RNA|HIPK3_ENST00000456517.1_Silent_p.S923S|HIPK3_ENST00000379016.3_Silent_p.S923S	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	944	Interaction with AR. {ECO:0000250}.|Required for localization to nuclear speckles. {ECO:0000250}.|Ser-rich.				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						AGCAAGAAAGTAGTTGTGATA	0.388																																																0													89	87	88					11																	33373178		2202	4298	6500	SO:0001819	synonymous_variant	10114			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.2832T>C	chr11.hg19:g.33373178T>C			O14632|Q2PBG4|Q2PBG5|Q92632|Q9HAS2	Silent	SNP	ENST00000303296.4	hg19	CCDS7884.1																																																																																				0.388	HIPK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255358.1	NM_005734		C	33373178	T	C	33373178	2	2	817	1	0	0	0	0	0	0	0	1	7120	1635	57	3		3	HIPK3	11	33373178	Silent	SNP	T	TCGA-Y8-A895-01A-11D-A35Z-10	32653043	33373178	101633338	48	49068											
MRPL16	54948	hgsc.bcm.edu	37	11	59573911	59573911	+	Missense_Mutation	SNP	T	T	A			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr11:59573911T>A	ENST00000300151.4	-	4	878	c.665A>T	c.(664-666)aAc>aTc	p.N222I		NM_017840.3	NP_060310.1	Q9NX20	RM16_HUMAN	mitochondrial ribosomal protein L16	222					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|endometrium(1)|liver(1)|lung(8)	11						GCCCAGCATGTTGGCAGTGGC	0.502																																																0													267	247	254					11																	59573911		2201	4295	6496	SO:0001583	missense	54948			AF183428	CCDS7976.1	11q12.1	2012-09-13			ENSG00000166902	ENSG00000166902		"Mitochondrial ribosomal proteins / large subunits"	14476	protein-coding gene	gene with protein product		611829					Standard	NM_017840		Approved	FLJ20484, PNAS-111	uc001noh.2	Q9NX20	OTTHUMG00000167410	ENST00000300151.4:c.665A>T	chr11.hg19:g.59573911T>A	ENSP00000300151:p.Asn222Ile		Q9BYD0|Q9HB70	Missense_Mutation	SNP	ENST00000300151.4	hg19	CCDS7976.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.420646	0.83559	.	.	ENSG00000166902	ENST00000300151	T	0.38077	1.16	6.07	4.93	0.64822	.	0.038078	0.85682	N	0.000000	T	0.61800	0.2376	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66360	-0.5943	10	0.87932	D	0	-27.3401	11.7445	0.51811	0.1321:0.0:0.0:0.8679	.	222	Q9NX20	RM16_HUMAN	I	222	ENSP00000300151:N222I	ENSP00000300151:N222I	N	-	2	0	MRPL16	59330487	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.019000	0.88732	1.093000	0.41377	0.533000	0.62120	AAC		0.502	MRPL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394521.1	NM_017840		A	59573911	T	A	59573911	3	1	817	1	0	0	0	0	1	0	0	0	9783	1725	60	5	94	5	MRPL16	11	59573911	Missense_Mutation	SNP	T	TCGA-Y8-A895-01A-11D-A35Z-10	26200733	59573911	75432605	49	49069			1	136		2	2	27	N	T_C	8.230506e-05
MRPL16	54948	hgsc.bcm.edu	37	11	59573937	59573937	+	Missense_Mutation	SNP	C	C	G			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr11:59573937C>G	ENST00000300151.4	-	4	852	c.639G>C	c.(637-639)tgG>tgC	p.W213C		NM_017840.3	NP_060310.1	Q9NX20	RM16_HUMAN	mitochondrial ribosomal protein L16	213					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|endometrium(1)|liver(1)|lung(8)	11						GCTCAAATGTCCAGGGGTTCT	0.512																																																0													286	265	272					11																	59573937		2201	4295	6496	SO:0001583	missense	54948			AF183428	CCDS7976.1	11q12.1	2012-09-13			ENSG00000166902	ENSG00000166902		"Mitochondrial ribosomal proteins / large subunits"	14476	protein-coding gene	gene with protein product		611829					Standard	NM_017840		Approved	FLJ20484, PNAS-111	uc001noh.2	Q9NX20	OTTHUMG00000167410	ENST00000300151.4:c.639G>C	chr11.hg19:g.59573937C>G	ENSP00000300151:p.Trp213Cys		Q9BYD0|Q9HB70	Missense_Mutation	SNP	ENST00000300151.4	hg19	CCDS7976.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.421247	0.83559	.	.	ENSG00000166902	ENST00000300151	T	0.27557	1.66	6.07	6.07	0.98685	.	0.049798	0.85682	D	0.000000	T	0.58466	0.2124	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.65987	0.94	T	0.59451	-0.7452	10	0.87932	D	0	-13.0683	19.222	0.93801	0.0:1.0:0.0:0.0	.	213	Q9NX20	RM16_HUMAN	C	213	ENSP00000300151:W213C	ENSP00000300151:W213C	W	-	3	0	MRPL16	59330513	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.797000	0.85911	2.884000	0.98904	0.655000	0.94253	TGG		0.512	MRPL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394521.1	NM_017840		G	59573937	C	G	59573937	3	3	817	1	0	0	0	0	1	0	0	0	9783	856	30	4	120	4	MRPL16	11	59573937	Missense_Mutation	SNP	C	TCGA-Y8-A895-01A-11D-A35Z-10	26	59573937	75432579	50	49070			1	136		2	2	27	N	T_C	8.230506e-05
BEST1	7439	hgsc.bcm.edu	37	11	61730245	61730245	+	Missense_Mutation	SNP	A	A	G			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr11:61730245A>G	ENST00000378043.4	+	10	2262	c.1619A>G	c.(1618-1620)aAc>aGc	p.N540S	FTH1_ENST00000529631.1_Intron|BEST1_ENST00000378042.3_Missense_Mutation_p.N453S|BEST1_ENST00000534553.1_3'UTR|BEST1_ENST00000449131.2_Missense_Mutation_p.N480S|FTH1_ENST00000529191.1_Intron|BEST1_ENST00000301774.9_Missense_Mutation_p.N168S	NM_004183.3	NP_004174.1	O76090	BEST1_HUMAN	bestrophin 1	540					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						GTGGAGTTTAACCTGACGGAT	0.463																																																0													117	121	119					11																	61730245		2202	4299	6501	SO:0001583	missense	7439			AF057170	CCDS31580.1, CCDS44623.1	11q12	2013-02-14	2006-10-18	2006-10-18	ENSG00000167995	ENSG00000167995		"Ion channels / Chloride channels : Calcium activated : Bestrophins"	12703	protein-coding gene	gene with protein product	"Best disease"	607854	"vitelliform macular dystrophy 2"	VMD2		1302019, 17003041	Standard	NM_004183		Approved	BMD, BEST, RP50	uc001nsr.2	O76090	OTTHUMG00000167469	ENST00000378043.4:c.1619A>G	chr11.hg19:g.61730245A>G	ENSP00000367282:p.Asn540Ser		A8K0W6|B7Z3J8|B7Z736|O75904|Q53YQ9|Q8IUR9|Q8IZ80	Missense_Mutation	SNP	ENST00000378043.4	hg19	CCDS31580.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.735650	0.89482	.	.	ENSG00000167995	ENST00000378043;ENST00000378042;ENST00000301774;ENST00000449131	D;D;T;D	0.97976	-4.57;-4.46;-0.84;-4.64	5.16	3.86	0.44501	.	0.843087	0.10155	N	0.709046	D	0.93943	0.8061	L	0.32530	0.975	0.80722	D	1	B;B;P	0.37101	0.408;0.075;0.582	B;B;B	0.33392	0.065;0.015;0.163	D	0.91941	0.5563	10	0.59425	D	0.04	-29.6263	6.2971	0.21091	0.8282:0.0:0.1718:0.0	.	453;540;480	O76090-4;O76090;O76090-3	.;BEST1_HUMAN;.	S	540;453;168;480	ENSP00000367282:N540S;ENSP00000367281:N453S;ENSP00000301774:N168S;ENSP00000399709:N480S	ENSP00000301774:N168S	N	+	2	0	BEST1	61486821	1.000000	0.71417	0.980000	0.43619	0.854000	0.48673	2.647000	0.46639	2.089000	0.63090	0.533000	0.62120	AAC		0.463	BEST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394715.1	NM_004183		G	61730245	A	G	61730245	3	3	817	1	0	0	0	0	1	0	0	0	1404	43	2	3	1653	3	BEST1	11	61730245	Missense_Mutation	SNP	A	TCGA-Y8-A895-01A-11D-A35Z-10	2156308	61730245	73276271	51	49071											
LTBP3	4054	hgsc.bcm.edu	37	11	65308749	65308749	+	Missense_Mutation	SNP	T	T	C			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr11:65308749T>C	ENST00000301873.5	-	20	3009	c.2741A>G	c.(2740-2742)cAc>cGc	p.H914R	LTBP3_ENST00000322147.4_Missense_Mutation_p.H914R|LTBP3_ENST00000536982.1_Missense_Mutation_p.H540R|LTBP3_ENST00000529189.1_5'UTR|LTBP3_ENST00000530785.1_5'UTR|LTBP3_ENST00000532932.1_Missense_Mutation_p.H344R	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	914					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						CTTCTTGTGGTGGGGCTGCTC	0.627											OREG0021080	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													111	99	103					11																	65308749		2201	4297	6498	SO:0001583	missense	4054			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.2741A>G	chr11.hg19:g.65308749T>C	ENSP00000301873:p.His914Arg	1083	O15107|Q96HB9|Q9H7K2|Q9UFN4	Missense_Mutation	SNP	ENST00000301873.5	hg19	CCDS44647.1	.	.	.	.	.	.	.	.	.	.	T	13.01	2.108115	0.37242	.	.	ENSG00000168056	ENST00000322147;ENST00000301873;ENST00000532932;ENST00000536982;ENST00000530866	D;D;D;D;D	0.92299	-3.01;-3.01;-3.01;-3.01;-3.01	4.32	4.32	0.51571	Matrix fibril-associated (2);	0.439740	0.23281	U	0.049905	D	0.86802	0.6020	N	0.13327	0.33	0.28670	N	0.90566	D;P;P;D;P;P	0.60575	0.988;0.919;0.867;0.974;0.919;0.645	P;B;B;P;P;B	0.53102	0.718;0.434;0.316;0.621;0.514;0.25	T	0.79482	-0.1785	10	0.24483	T	0.36	.	7.1975	0.25862	0.1989:0.0:0.0:0.8011	.	825;540;797;914;914;344	E9PKW1;F5GWC4;B9EG76;Q9NS15;Q9NS15-2;E9PJR2	.;.;.;LTBP3_HUMAN;.;.	R	914;914;344;540;825	ENSP00000326647:H914R;ENSP00000301873:H914R;ENSP00000435530:H344R;ENSP00000441912:H540R;ENSP00000435276:H825R	ENSP00000301873:H914R	H	-	2	0	LTBP3	65065325	.	.	1.000000	0.80357	0.856000	0.48823	.	.	1.591000	0.50007	0.240000	0.17902	CAC		0.627	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390538.1	NM_021070		C	65308749	T	C	65308749	3	2	817	1	0	0	0	0	1	0	0	0	9077	1696	59	3	1206	3	LTBP3	11	65308749	Missense_Mutation	SNP	T	TCGA-Y8-A895-01A-11D-A35Z-10	3578504	65308749	69697767	52	49072											
MTMR2	8898	hgsc.bcm.edu	37	11	95580921	95580921	+	Missense_Mutation	SNP	C	C	A			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr11:95580921C>A	ENST00000346299.5	-	10	1476	c.1136G>T	c.(1135-1137)tGg>tTg	p.W379L	MTMR2_ENST00000409459.1_Missense_Mutation_p.W307L|MTMR2_ENST00000393223.3_Missense_Mutation_p.W307L|MTMR2_ENST00000352297.7_Missense_Mutation_p.W307L|MTMR2_ENST00000484818.1_5'Flank	NM_016156.5	NP_057240.3	Q13614	MTMR2_HUMAN	myotubularin related protein 2	379	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)			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)				GTTAGACAACCAGTGGGTTTC	0.378																																																0													132	133	133					11																	95580921		2201	4298	6499	SO:0001583	missense	8898			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.1136G>T	chr11.hg19:g.95580921C>A	ENSP00000345752:p.Trp379Leu		A6NN98|Q9UPS9	Missense_Mutation	SNP	ENST00000346299.5	hg19	CCDS8305.1	.	.	.	.	.	.	.	.	.	.	C	34	5.354464	0.95830	.	.	ENSG00000087053	ENST00000346299;ENST00000393223;ENST00000409459;ENST00000352297;ENST00000444541	D;D;D;D;D	0.92752	-3.1;-3.1;-3.1;-3.1;-3.1	5.69	5.69	0.88448	Myotubularin phosphatase domain (1);	0.000000	0.85682	D	0.000000	D	0.97093	0.9050	M	0.90870	3.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.991	D	0.97490	1.0053	10	0.87932	D	0	.	19.8165	0.96571	0.0:1.0:0.0:0.0	.	379;379	A8K5G2;Q13614	.;MTMR2_HUMAN	L	379;307;307;307;307	ENSP00000345752:W379L;ENSP00000376915:W307L;ENSP00000386882:W307L;ENSP00000343737:W307L;ENSP00000396020:W307L	ENSP00000345752:W379L	W	-	2	0	MTMR2	95220569	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.755000	0.85180	2.683000	0.91414	0.655000	0.94253	TGG		0.378	MTMR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332620.1	NM_016156		A	95580921	C	A	95580921	3	1	817	1	0	0	0	0	1	0	0	0	9946	595	21	4	819	4	MTMR2	11	95580921	Missense_Mutation	SNP	C	TCGA-Y8-A895-01A-11D-A35Z-10	30272172	95580921	39425595	53	49073											
C11orf1	64776	hgsc.bcm.edu	37	11	111753128	111753128	+	Missense_Mutation	SNP	T	T	A			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr11:111753128T>A	ENST00000260276.3	+	2	419	c.82T>A	c.(82-84)Tgt>Agt	p.C28S	C11orf1_ENST00000528125.1_De_novo_Start_OutOfFrame|C11orf1_ENST00000530214.1_Missense_Mutation_p.C28S|C11orf1_ENST00000529270.1_Missense_Mutation_p.C68S|ALG9_ENST00000524880.1_5'Flank	NM_022761.2	NP_073598.1	Q9H5F2	CK001_HUMAN	chromosome 11 open reading frame 1	28						nucleus (GO:0005634)				kidney(2)|lung(3)	5		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)|Medulloblastoma(222;0.0228)|all_neural(223;0.0281)		all cancers(92;6.28e-09)|Epithelial(105;4.11e-08)|OV - Ovarian serous cystadenocarcinoma(223;1.52e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)		AAACCCACACTGTGGCAGCCT	0.428																																																0													101	82	89					11																	111753128		2201	4297	6498	SO:0001583	missense	64776			AJ250229	CCDS8350.1	11q23.1	2012-05-30			ENSG00000137720	ENSG00000137720			1163	protein-coding gene	gene with protein product						10873569	Standard	NM_022761		Approved	FLJ23499	uc001pmd.3	Q9H5F2	OTTHUMG00000166884	ENST00000260276.3:c.82T>A	chr11.hg19:g.111753128T>A	ENSP00000260276:p.Cys28Ser		Q6I9X7|Q9NQC6	Missense_Mutation	SNP	ENST00000260276.3	hg19	CCDS8350.1	.	.	.	.	.	.	.	.	.	.	T	7.970	0.748848	0.15710	.	.	ENSG00000137720	ENST00000260276;ENST00000530214;ENST00000530799;ENST00000529270	T;T;T;T	0.22336	1.96;1.96;1.96;1.96	5.33	5.33	0.75918	.	0.795295	0.11705	N	0.537529	T	0.10208	0.0250	N	0.08118	0	0.18873	N	0.999987	B;B	0.16166	0.016;0.001	B;B	0.19391	0.025;0.002	T	0.24728	-1.0152	10	0.23891	T	0.37	-4.0562	4.784	0.13217	0.1655:0.0852:0.0:0.7492	.	68;28	E9PMC1;Q9H5F2	.;CK001_HUMAN	S	28;28;44;68	ENSP00000260276:C28S;ENSP00000435864:C28S;ENSP00000432128:C44S;ENSP00000431180:C68S	ENSP00000260276:C28S	C	+	1	0	C11orf1	111258338	0.312000	0.24545	0.960000	0.40013	0.737000	0.42083	1.146000	0.31589	2.237000	0.73441	0.459000	0.35465	TGT		0.428	C11orf1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391650.1	NM_022761		A	111753128	T	A	111753128	3	1	817	1	0	0	0	0	1	0	0	0	1631	1580	55	5	88	5	C11orf1	11	111753128	Missense_Mutation	SNP	T	TCGA-Y8-A895-01A-11D-A35Z-10	16172207	111753128	23253388	54	49074											
THY1	7070	hgsc.bcm.edu	37	11	119290952	119290959	+	Frame_Shift_Del	DEL	TGCTTCTT	TGCTTCTT	-			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	TGCTTCTT	TGCTTCTT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr11:119290952_119290959delTGCTTCTT	ENST00000284240.5	-	3	1214_1221	c.175_182delAAGAAGCA	c.(175-183)aagaagcacfs	p.KKH59fs	THY1_ENST00000527590.1_5'UTR|RP11-334E6.12_ENST00000578216.1_RNA|THY1_ENST00000580275.1_Frame_Shift_Del_p.KKH42fs|USP2-AS1_ENST00000498979.2_RNA|USP2-AS1_ENST00000578923.1_RNA|USP2-AS1_ENST00000500970.1_RNA|USP2-AS1_ENST00000530002.1_RNA|THY1_ENST00000528522.1_Frame_Shift_Del_p.KKH59fs	NM_006288.3	NP_006279.2	P04216	THY1_HUMAN	Thy-1 cell surface antigen	59	Ig-like V-type.				angiogenesis (GO:0001525)|cytoskeleton organization (GO:0007010)|focal adhesion assembly (GO:0048041)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell receptor signaling pathway (GO:0050860)|positive regulation of GTPase activity (GO:0043547)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of T cell activation (GO:0050870)|retinal cone cell development (GO:0046549)|single organismal cell-cell adhesion (GO:0016337)|T cell receptor signaling pathway (GO:0050852)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	GPI anchor binding (GO:0034235)|integrin binding (GO:0005178)|Rho GTPase activator activity (GO:0005100)	p.K59N(1)		breast(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.83e-05)		AAAGAGCACGTGCTTCTTTGTCTCACGG	0.553																																																1	Substitution - Missense(1)	breast(1)																																								SO:0001589	frameshift_variant	7070			M11749	CCDS8424.1	11q23.3	2013-01-14				ENSG00000154096		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	11801	protein-coding gene	gene with protein product		188230				2864690	Standard	NM_006288		Approved	CD90	uc001pwr.3	P04216		ENST00000284240.5:c.175_182delAAGAAGCA	chr11.hg19:g.119290952_119290959delTGCTTCTT	ENSP00000284240:p.Lys59fs		Q16008|Q9NSP1	Frame_Shift_Del	DEL	ENST00000284240.5	hg19	CCDS8424.1																																																																																				0.553	THY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388370.2	NM_006288		-	119290959	TGCTTCTT	-	119290952	7	5	817	1	0	1	0	1	0	0	0	0	15890	1696	59	0	311	0	THY1	11	119290952	Frame_Shift_Del	DEL	TGCTTCTT	TCGA-Y8-A895-01A-11D-A35Z-10	7537824	119290952	15715564	55	49075											
SORL1	6653	hgsc.bcm.edu	37	11	121430332	121430332	+	Missense_Mutation	SNP	G	G	T			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr11:121430332G>T	ENST00000260197.7	+	21	3144	c.3015G>T	c.(3013-3015)atG>atT	p.M1005I		NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1005					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)		CGGGGCTCATGGACATGAAGA	0.488																																																0													91	90	90					11																	121430332		2203	4299	6502	SO:0001583	missense	6653			Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"Fibronectin type III domain containing"	11185	protein-coding gene	gene with protein product	"LDLR relative with 11 ligand-binding repeats"	602005	"chromosome 11 open reading frame 32", "sortilin-related receptor, L(DLR class) A repeats-containing"	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.3015G>T	chr11.hg19:g.121430332G>T	ENSP00000260197:p.Met1005Ile		B2RNX7|Q92856	Missense_Mutation	SNP	ENST00000260197.7	hg19	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.830325	0.91036	.	.	ENSG00000137642	ENST00000260197	D	0.91124	-2.79	5.24	5.24	0.73138	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.92355	0.7574	M	0.84511	2.7	0.80722	D	1	P	0.45078	0.85	B	0.41917	0.37	D	0.93769	0.7073	10	0.72032	D	0.01	.	18.8284	0.92127	0.0:0.0:1.0:0.0	.	1005	Q92673	SORL_HUMAN	I	1005	ENSP00000260197:M1005I	ENSP00000260197:M1005I	M	+	3	0	SORL1	120935542	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.614000	0.98353	2.441000	0.82636	0.655000	0.94253	ATG		0.488	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		T	121430332	G	T	121430332	3	4	817	1	0	0	0	0	1	0	0	0	14940	1348	47	4	3097	4	SORL1	11	121430332	Missense_Mutation	SNP	G	TCGA-Y8-A895-01A-11D-A35Z-10	2139380	121430332	13576184	56	49076											
SCN3B	55800	hgsc.bcm.edu	37	11	123516378	123516378	+	Missense_Mutation	SNP	T	T	A			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr11:123516378T>A	ENST00000392770.2	-	2	938	c.136A>T	c.(136-138)Atc>Ttc	p.I46F	SCN3B_ENST00000530277.1_Missense_Mutation_p.I46F|SCN3B_ENST00000299333.3_Missense_Mutation_p.I46F	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit	46	Ig-like C2-type.				atrial cardiac muscle cell action potential (GO:0086014)|axon guidance (GO:0007411)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|positive regulation of heart rate (GO:0010460)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|ventricular cardiac muscle cell action potential (GO:0086005)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		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;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)	Valproic Acid(DB00313)|Zonisamide(DB00909)	ATGCAGGAGATGCAGCGCAGC	0.577																																																0													125	121	122					11																	123516378		2202	4299	6501	SO:0001583	missense	55800			AJ243396	CCDS8442.1	11q24.1	2014-09-17	2012-02-28		ENSG00000166257	ENSG00000166257		"Sodium channels", "Voltage-gated ion channels / Sodium channels", "Immunoglobulin superfamily / V-set domain containing"	20665	protein-coding gene	gene with protein product		608214	"sodium channel, voltage-gated, type III, beta"			10688874	Standard	XR_428980		Approved	HSA243396	uc001pzb.1	Q9NY72	OTTHUMG00000166006	ENST00000392770.2:c.136A>T	chr11.hg19:g.123516378T>A	ENSP00000376523:p.Ile46Phe		A5H1I5|Q17RL3|Q9ULR2	Missense_Mutation	SNP	ENST00000392770.2	hg19	CCDS8442.1	.	.	.	.	.	.	.	.	.	.	T	34	5.372748	0.95923	.	.	ENSG00000166257	ENST00000392770;ENST00000299333;ENST00000530277;ENST00000527836;ENST00000528267	T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01;-0.01	5.96	5.96	0.96718	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.79499	0.4456	M	0.75777	2.31	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.81404	-0.0948	10	0.66056	D	0.02	-3.7292	16.443	0.83907	0.0:0.0:0.0:1.0	.	46	Q9NY72	SCN3B_HUMAN	F	46	ENSP00000376523:I46F;ENSP00000299333:I46F;ENSP00000432785:I46F;ENSP00000435554:I46F;ENSP00000434363:I46F	ENSP00000299333:I46F	I	-	1	0	SCN3B	123021588	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.691000	0.84191	2.275000	0.75901	0.496000	0.49642	ATC		0.577	SCN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387412.1	NM_018400		A	123516378	T	A	123516378	3	1	817	1	0	0	0	0	1	0	0	0	13925	1464	51	5	527	5	SCN3B	11	123516378	Missense_Mutation	SNP	T	TCGA-Y8-A895-01A-11D-A35Z-10	2086046	123516378	11490138	57	49077											
PLCZ1	89869	hgsc.bcm.edu	37	12	18854673	18854673	+	Missense_Mutation	SNP	A	A	T			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr12:18854673A>T	ENST00000538330.1	-	5	506	c.125T>A	c.(124-126)aTa>aAa	p.I42K	PLCZ1_ENST00000266505.7_Missense_Mutation_p.I301K|PLCZ1_ENST00000435379.1_Missense_Mutation_p.I106K|PLCZ1_ENST00000447925.2_Missense_Mutation_p.I299K|PLCZ1_ENST00000542762.1_5'UTR|PLCZ1_ENST00000541695.1_Missense_Mutation_p.I164K|PLCZ1_ENST00000539875.1_Missense_Mutation_p.I108K					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)					TAAGGTTCCTATTTTCTTATT	0.358																																																0													64	63	63					12																	18854673		2203	4297	6500	SO:0001583	missense	89869			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.125T>A	chr12.hg19:g.18854673A>T	ENSP00000445880:p.Ile42Lys			Missense_Mutation	SNP	ENST00000538330.1	hg19		.	.	.	.	.	.	.	.	.	.	A	16.14	3.038007	0.54896	.	.	ENSG00000139151	ENST00000538330;ENST00000266505;ENST00000447925;ENST00000435379;ENST00000541695;ENST00000539875;ENST00000540421;ENST00000543242;ENST00000539072	T;T;T;T;T;T;T;T;T	0.63580	-0.05;0.65;0.65;-0.05;0.65;-0.05;-0.05;0.65;-0.05	5.35	5.35	0.76521	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.571765	0.18358	N	0.143647	T	0.57051	0.2027	L	0.50333	1.59	0.41644	D	0.989096	P;P	0.38335	0.514;0.627	B;B	0.37650	0.106;0.255	T	0.60286	-0.7293	10	0.48119	T	0.1	.	12.02	0.53337	1.0:0.0:0.0:0.0	.	301;42	Q86YW0;Q8N7S5	PLCZ1_HUMAN;.	K	42;301;299;106;164;108;36;42;128	ENSP00000445880:I42K;ENSP00000266505:I301K;ENSP00000402358:I299K;ENSP00000400504:I106K;ENSP00000443349:I164K;ENSP00000445026:I108K;ENSP00000445889:I36K;ENSP00000443762:I42K;ENSP00000438629:I128K	ENSP00000266505:I301K	I	-	2	0	PLCZ1	18745940	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.675000	0.46875	2.156000	0.67533	0.533000	0.62120	ATA		0.358	PLCZ1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000401666.3	NM_033123		T	18854673	A	T	18854673	3	4	817	1	0	0	0	0	1	0	0	0	12046	449	16	5	956	5	PLCZ1	12	18854673	Missense_Mutation	SNP	A	TCGA-Y8-A895-01A-11D-A35Z-10		18854673	114997222	58	49078											
SLCO1A2	6579	hgsc.bcm.edu	37	12	21459852	21459852	+	Nonsense_Mutation	SNP	C	C	A			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr12:21459852C>A	ENST00000307378.6	-	6	1126	c.406G>T	c.(406-408)Gga>Tga	p.G136*	SLCO1A2_ENST00000458504.1_Nonsense_Mutation_p.G4*|SLCO1A2_ENST00000537524.1_Nonsense_Mutation_p.G4*|SLCO1A2_ENST00000452078.1_Nonsense_Mutation_p.G136*|SLCO1A2_ENST00000390670.3_Nonsense_Mutation_p.G134*	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	136					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)	ATCTGGGTTCCATTTTCCATA	0.358																																																0													119	109	112					12																	21459852		2203	4300	6503	SO:0001587	stop_gained	6579				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.406G>T	chr12.hg19:g.21459852C>A	ENSP00000305974:p.Gly136*		Q9UGP7|Q9UL38	Nonsense_Mutation	SNP	ENST00000307378.6	hg19	CCDS8686.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.530205	0.85706	.	.	ENSG00000084453	ENST00000307378;ENST00000452078;ENST00000458504;ENST00000537524;ENST00000390670;ENST00000413682;ENST00000422327;ENST00000453443	.	.	.	4.2	3.3	0.37823	.	1.613170	0.03170	N	0.170528	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	5.1289	0.14899	0.0:0.6678:0.2145:0.1177	.	.	.	.	X	136;136;4;4;134;4;136;136	.	ENSP00000305974:G136X	G	-	1	0	SLCO1A2	21351119	0.980000	0.34600	0.995000	0.50966	0.982000	0.71751	0.404000	0.20999	0.959000	0.37980	0.557000	0.71058	GGA		0.358	SLCO1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343648.3	NM_021094		A	21459852	C	A	21459852	4	1	817	1	0	0	0	0	0	1	0	0	14728	603	21	4	1650	4	SLCO1A2	12	21459852	Nonsense_Mutation	SNP	C	TCGA-Y8-A895-01A-11D-A35Z-10	2605179	21459852	112392043	59	49079											
TROAP	10024	hgsc.bcm.edu	37	12	49717698	49717698	+	Frame_Shift_Del	DEL	C	C	-			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr12:49717698delC	ENST00000257909.3	+	3	291	c.215delC	c.(214-216)gccfs	p.A72fs	TROAP_ENST00000380327.5_Frame_Shift_Del_p.A72fs|TROAP_ENST00000551245.1_Frame_Shift_Del_p.A72fs|TROAP_ENST00000547923.1_5'Flank|RP11-161H23.9_ENST00000553259.1_RNA|TROAP_ENST00000549275.1_Intron|TROAP_ENST00000550709.1_Frame_Shift_Del_p.A72fs|TROAP_ENST00000549534.1_3'UTR|TROAP_ENST00000548311.1_Frame_Shift_Del_p.A72fs	NM_005480.3	NP_005471.3	Q12815	TROAP_HUMAN	trophinin associated protein	72					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						AGGCCGAAAGCCAGGCACCAG	0.582																																																0													83	83	83					12																	49717698		2203	4300	6503	SO:0001589	frameshift_variant	10024			U04810	CCDS8784.1, CCDS41779.1, CCDS61117.1	12q13.12	2012-10-17	2012-10-17		ENSG00000135451	ENSG00000135451			12327	protein-coding gene	gene with protein product	"tastin"	603872				7758945	Standard	NM_005480		Approved	TASTIN	uc001rtx.4	Q12815	OTTHUMG00000169486	ENST00000257909.3:c.215delC	chr12.hg19:g.49717698delC	ENSP00000257909:p.Ala72fs		F8VSF9|Q6PJU7|Q8N5B2	Frame_Shift_Del	DEL	ENST00000257909.3	hg19	CCDS8784.1																																																																																				0.582	TROAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404300.1	NM_005480		-	49717698	C	-	49717698	7	5	817	1	0	1	0	1	0	0	0	0	16580	739	26	0	221	0	TROAP	12	49717698	Frame_Shift_Del	DEL	C	TCGA-Y8-A895-01A-11D-A35Z-10	28257846	49717698	84134197	60	49080											
BAZ2A	11176	hgsc.bcm.edu	37	12	56994768	56994768	+	Missense_Mutation	SNP	T	T	G			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr12:56994768T>G	ENST00000551812.1	-	22	4608	c.4415A>C	c.(4414-4416)cAc>cCc	p.H1472P	BAZ2A_ENST00000179765.5_Missense_Mutation_p.H1440P|BAZ2A_ENST00000549884.1_Missense_Mutation_p.H1470P|BAZ2A_ENST00000553222.1_5'UTR|BAZ2A_ENST00000379441.3_Missense_Mutation_p.H1442P	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1472					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						GAAGTCCCTGTGCTTGTTAAG	0.537																																																0													47	51	49					12																	56994768		1991	4172	6163	SO:0001583	missense	11176			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.4415A>C	chr12.hg19:g.56994768T>G	ENSP00000446880:p.His1472Pro		B3KN66|O00536|O15030|Q68DI8|Q96H26	Missense_Mutation	SNP	ENST00000551812.1	hg19	CCDS44924.1	.	.	.	.	.	.	.	.	.	.	T	19.99	3.928810	0.73327	.	.	ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549787;ENST00000549884	T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.52273	0.1724	L	0.60455	1.87	0.80722	D	1	D;D;B;D	0.89917	0.999;0.988;0.23;1.0	D;D;B;D	0.91635	0.996;0.979;0.305;0.999	T	0.54009	-0.8357	10	0.72032	D	0.01	-16.147	14.9092	0.70743	0.0:0.0:0.0:1.0	.	1470;1468;1472;1445	F8VU39;Q9UIF9-3;Q9UIF9;Q9UIF9-2	.;.;BAZ2A_HUMAN;.	P	1442;1440;1472;404;1470	ENSP00000368754:H1442P;ENSP00000179765:H1440P;ENSP00000446880:H1472P;ENSP00000448760:H404P;ENSP00000447941:H1470P	ENSP00000179765:H1440P	H	-	2	0	BAZ2A	55281035	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.657000	0.83745	2.231000	0.72958	0.459000	0.35465	CAC		0.537	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408561.1	NM_013449		G	56994768	T	G	56994768	3	3	817	1	0	0	0	0	1	0	0	0	1331	1696	59	5	1334	5	BAZ2A	12	56994768	Missense_Mutation	SNP	T	TCGA-Y8-A895-01A-11D-A35Z-10	7277070	56994768	76857127	61	49081											
LRP1	4035	hgsc.bcm.edu	37	12	57600368	57600368	+	Silent	SNP	C	C	T			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr12:57600368C>T	ENST00000243077.3	+	76	12169	c.11703C>T	c.(11701-11703)cgC>cgT	p.R3901R		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3901					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)	AGAGTGTCCGCATTGATGCTA	0.597																																																0													218	136	164					12																	57600368		2203	4300	6503	SO:0001819	synonymous_variant	4035			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.11703C>T	chr12.hg19:g.57600368C>T			Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	hg19	CCDS8932.1																																																																																				0.597	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		T	57600368	C	T	57600368	2	4	817	1	0	0	0	0	0	0	0	1	8953	697	25	2		2	LRP1	12	57600368	Silent	SNP	C	TCGA-Y8-A895-01A-11D-A35Z-10	605600	57600368	76251527	62	49082											
KIF5A	3798	hgsc.bcm.edu	37	12	57969029	57969029	+	Missense_Mutation	SNP	T	T	A			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr12:57969029T>A	ENST00000455537.2	+	16	2153	c.1879T>A	c.(1879-1881)Tca>Aca	p.S627T	KIF5A_ENST00000286452.5_Missense_Mutation_p.S538T	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	627					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						GCGGGAGCTCTCATCCTGCCA	0.537																																																0													42	41	41					12																	57969029		2203	4300	6503	SO:0001583	missense	3798			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.1879T>A	chr12.hg19:g.57969029T>A	ENSP00000408979:p.Ser627Thr		A6H8M5|Q4LE26	Missense_Mutation	SNP	ENST00000455537.2	hg19	CCDS8945.1	.	.	.	.	.	.	.	.	.	.	T	16.06	3.014980	0.54468	.	.	ENSG00000155980	ENST00000455537;ENST00000286452	D;D	0.85702	-2.02;-2.02	4.52	4.52	0.55395	.	0.000000	0.85682	D	0.000000	T	0.80607	0.4655	L	0.52759	1.655	0.54753	D	0.99998	B;B	0.17852	0.024;0.008	B;B	0.20184	0.028;0.022	T	0.75402	-0.3330	10	0.22706	T	0.39	.	13.2727	0.60170	0.0:0.0:0.0:1.0	.	538;627	B7Z2M7;Q12840	.;KIF5A_HUMAN	T	627;538	ENSP00000408979:S627T;ENSP00000286452:S538T	ENSP00000286452:S538T	S	+	1	0	KIF5A	56255296	0.990000	0.36364	0.947000	0.38551	0.992000	0.81027	2.229000	0.42990	2.027000	0.59764	0.533000	0.62120	TCA		0.537	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		A	57969029	T	A	57969029	3	1	817	1	0	0	0	0	1	0	0	0	8307	1551	54	5	1941	5	KIF5A	12	57969029	Missense_Mutation	SNP	T	TCGA-Y8-A895-01A-11D-A35Z-10	368661	57969029	75882866	63	49083											
MED13L	23389	hgsc.bcm.edu	37	12	116460358	116460358	+	Silent	SNP	A	A	G			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr12:116460358A>G	ENST00000281928.3	-	5	734	c.528T>C	c.(526-528)aaT>aaC	p.N176N		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	176						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)		TTGTGCATACATTACTTTCTC	0.408																																																0													98	82	88					12																	116460358		2203	4300	6503	SO:0001819	synonymous_variant	23389			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.528T>C	chr12.hg19:g.116460358A>G			A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Silent	SNP	ENST00000281928.3	hg19	CCDS9177.1																																																																																				0.408	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			G	116460358	A	G	116460358	2	3	817	1	0	0	0	0	0	0	0	1	9433	214	8	3		3	MED13L	12	116460358	Silent	SNP	A	TCGA-Y8-A895-01A-11D-A35Z-10	58491329	116460358	17391537	64	49084											
SLC15A4	121260	hgsc.bcm.edu	37	12	129293996	129293996	+	Missense_Mutation	SNP	T	T	C			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr12:129293996T>C	ENST00000266771.5	-	4	1073	c.1034A>G	c.(1033-1035)cAg>cGg	p.Q345R	SLC15A4_ENST00000539703.1_5'UTR|SLC15A4_ENST00000544112.1_Missense_Mutation_p.Q8R	NM_145648.3	NP_663623.1	Q8N697	S15A4_HUMAN	solute carrier family 15 (oligopeptide transporter), member 4	345					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)		ATGAAGACTCTGTAAAACATA	0.363																																																0													169	176	174					12																	129293996		2203	4300	6503	SO:0001583	missense	121260			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.1034A>G	chr12.hg19:g.129293996T>C	ENSP00000266771:p.Gln345Arg		A6H8Y9|B3KTK1|Q71M34|Q7Z5F8|Q8TAH0	Missense_Mutation	SNP	ENST00000266771.5	hg19	CCDS9264.1	.	.	.	.	.	.	.	.	.	.	T	27.9	4.869237	0.91587	.	.	ENSG00000139370	ENST00000266771;ENST00000544112;ENST00000376740	T;T;T	0.58797	0.31;3.61;3.61	5.92	5.92	0.95590	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.81969	0.4935	M	0.92691	3.335	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.86441	0.1767	10	0.87932	D	0	.	16.3544	0.83230	0.0:0.0:0.0:1.0	.	345	Q8N697	S15A4_HUMAN	R	345;8;45	ENSP00000266771:Q345R;ENSP00000439946:Q8R;ENSP00000365930:Q45R	ENSP00000266771:Q345R	Q	-	2	0	SLC15A4	127859949	1.000000	0.71417	0.998000	0.56505	0.969000	0.65631	7.246000	0.78247	2.265000	0.75225	0.459000	0.35465	CAG		0.363	SLC15A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399663.1	NM_145648		C	129293996	T	C	129293996	3	2	817	1	0	0	0	0	1	0	0	0	14407	1580	55	3	719	3	SLC15A4	12	129293996	Missense_Mutation	SNP	T	TCGA-Y8-A895-01A-11D-A35Z-10	12833638	129293996	4557899	65	49085											
COG3	83548	hgsc.bcm.edu	37	13	46054274	46054274	+	Frame_Shift_Del	DEL	A	A	-			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr13:46054274delA	ENST00000349995.5	+	4	510	c.398delA	c.(397-399)tacfs	p.Y133fs		NM_031431.3	NP_113619	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3	133					ER to Golgi vesicle-mediated transport (GO:0006888)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		ATGAGGGATTACTTGTCTGGG	0.398																																					Ovarian(150;1048 1859 18083 21577 42700)											0													125	126	126					13																	46054274		2203	4300	6503	SO:0001589	frameshift_variant	83548			AF131829	CCDS9398.1	13q14.11	2008-02-05			ENSG00000136152	ENSG00000136152		"Components of oligomeric golgi complex"	18619	protein-coding gene	gene with protein product		606975				11980916	Standard	NM_031431		Approved	SEC34	uc001vak.3	Q96JB2	OTTHUMG00000016855	ENST00000349995.5:c.398delA	chr13.hg19:g.46054274delA	ENSP00000258654:p.Tyr133fs		B2RAW5|Q5VT70|Q8IXX4|Q9BZ92	Frame_Shift_Del	DEL	ENST00000349995.5	hg19	CCDS9398.1																																																																																				0.398	COG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044777.2			-	46054274	A	-	46054274	7	5	817	1	0	1	0	1	0	0	0	0	3661	391	14	0	412	0	COG3	13	46054274	Frame_Shift_Del	DEL	A	TCGA-Y8-A895-01A-11D-A35Z-10		46054274	69115604	66	49086											
FLVCR2	55640	hgsc.bcm.edu	37	14	76045630	76045630	+	Nonsense_Mutation	SNP	C	C	G			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr14:76045630C>G	ENST00000238667.4	+	1	671	c.315C>G	c.(313-315)taC>taG	p.Y105*	AC007182.6_ENST00000455232.1_RNA	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	105					heme transport (GO:0015886)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	heme binding (GO:0020037)|heme transporter activity (GO:0015232)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		GGATCCAGTACGGCTCCATCA	0.537																																																0													160	129	139					14																	76045630		2203	4300	6503	SO:0001587	stop_gained	55640			AK000378	CCDS9844.1, CCDS55933.1	14q24.3	2013-05-22	2007-05-01	2007-05-01	ENSG00000119686	ENSG00000119686		"Solute carriers"	20105	protein-coding gene	gene with protein product		610865	"chromosome 14 open reading frame 58", "feline leukemia virus subgroup C cellular receptor 2"	C14orf58		16439531, 20206334	Standard	NM_017791		Approved	FLJ20371, MFSD7C	uc001xrs.2	Q9UPI3	OTTHUMG00000171487	ENST00000238667.4:c.315C>G	chr14.hg19:g.76045630C>G	ENSP00000238667:p.Tyr105*		B7Z485|Q53ZT9|Q96JY3|Q9NX90	Nonsense_Mutation	SNP	ENST00000238667.4	hg19	CCDS9844.1	.	.	.	.	.	.	.	.	.	.	C	40	8.087835	0.98648	.	.	ENSG00000119686	ENST00000238667	.	.	.	5.9	-0.175	0.13315	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-11.5956	10.1313	0.42680	0.0:0.5239:0.0:0.4761	.	.	.	.	X	105	.	ENSP00000238667:Y105X	Y	+	3	2	AC007182.1	75115383	0.547000	0.26465	0.752000	0.31206	0.929000	0.56500	-0.123000	0.10611	0.116000	0.18110	0.650000	0.86243	TAC		0.537	FLVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413672.1	NM_017791		G	76045630	C	G	76045630	4	3	817	1	0	0	0	0	0	1	0	0	5948	547	19	4	317	4	FLVCR2	14	76045630	Nonsense_Mutation	SNP	C	TCGA-Y8-A895-01A-11D-A35Z-10		76045630	31303910	67	49087											
KCNK10	54207	hgsc.bcm.edu	37	14	88707144	88707144	+	Missense_Mutation	SNP	A	A	C			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr14:88707144A>C	ENST00000340700.5	-	3	859	c.408T>G	c.(406-408)aaT>aaG	p.N136K	KCNK10_ENST00000319231.5_Missense_Mutation_p.N141K|KCNK10_ENST00000312350.5_Missense_Mutation_p.N141K	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	136					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						TGACTCCCGCATTGTCAGCAT	0.403																																																0													91	82	85					14																	88707144		2203	4300	6503	SO:0001583	missense	54207			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.408T>G	chr14.hg19:g.88707144A>C	ENSP00000343104:p.Asn136Lys		B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Missense_Mutation	SNP	ENST00000340700.5	hg19	CCDS9880.1	.	.	.	.	.	.	.	.	.	.	A	15.61	2.883721	0.51908	.	.	ENSG00000100433	ENST00000340700;ENST00000312350;ENST00000319231;ENST00000556282	D;D;D;T	0.90676	-2.7;-2.71;-2.7;0.98	5.91	-7.33	0.01431	.	0.042994	0.85682	D	0.000000	T	0.81427	0.4820	N	0.11789	0.175	0.50632	D	0.999881	B;B;B	0.32467	0.372;0.372;0.027	B;B;B	0.42959	0.314;0.403;0.063	T	0.68792	-0.5315	10	0.18710	T	0.47	.	15.1307	0.72520	0.5942:0.0:0.4058:0.0	.	136;141;141	P57789;B2R8T4;Q6B014	KCNKA_HUMAN;.;.	K	136;141;141;124	ENSP00000343104:N136K;ENSP00000310568:N141K;ENSP00000312811:N141K;ENSP00000452587:N124K	ENSP00000310568:N141K	N	-	3	2	KCNK10	87776897	0.346000	0.24844	0.451000	0.26982	0.989000	0.77384	-0.115000	0.10741	-1.842000	0.01181	-0.250000	0.11733	AAT		0.403	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	NM_021161		C	88707144	A	C	88707144	3	2	817	1	0	0	0	0	1	0	0	0	8061	214	8	5	1228	5	KCNK10	14	88707144	Missense_Mutation	SNP	A	TCGA-Y8-A895-01A-11D-A35Z-10	12661514	88707144	18642396	68	49088											
ZC3H14	79882	hgsc.bcm.edu	37	14	89061310	89061310	+	Intron	SNP	A	A	C			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr14:89061310A>C	ENST00000251038.5	+	10	1504				ZC3H14_ENST00000555755.1_Intron|ZC3H14_ENST00000359301.3_Intron|ZC3H14_ENST00000393514.5_Intron|ZC3H14_ENST00000406216.3_Missense_Mutation_p.K80N|ZC3H14_ENST00000302216.8_Intron|ZC3H14_ENST00000555900.1_Missense_Mutation_p.K80N|ZC3H14_ENST00000556945.1_Intron|ZC3H14_ENST00000318308.6_Missense_Mutation_p.K80N|ZC3H14_ENST00000557607.1_Intron|ZC3H14_ENST00000336693.4_Intron	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							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						ATGAAGCAAAAATTTCATCTT	0.318																																																0													48	47	48					14																	89061310		2202	4300	6502	SO:0001627	intron_variant	79882			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.1280-1768A>C	chr14.hg19:g.89061310A>C			A8MY46|B4DXU8|B4DZW7|B4E2H4|G3V5R4|Q6MZU4|Q6PJ32|Q6PUI6|Q6PUI8|Q86TQ5|Q86TW0|Q86TW1|Q8NCT6|Q8NCZ3|Q8TDE2|Q9HAC9|Q9Y5A0	Missense_Mutation	SNP	ENST00000251038.5	hg19	CCDS32133.1	.	.	.	.	.	.	.	.	.	.	A	15.01	2.707408	0.48412	.	.	ENSG00000100722	ENST00000318308;ENST00000555900;ENST00000406216;ENST00000557737	T;T;T;T	0.80909	-1.43;-1.43;-1.43;-1.43	5.61	4.47	0.54385	.	.	.	.	.	D	0.84234	0.5427	L	0.47716	1.5	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	D	0.83799	0.0235	9	0.72032	D	0.01	.	8.1105	0.30911	0.9088:0.0:0.0912:0.0	.	80;80	Q6PJT7-8;Q6PJT7-6	.;.	N	80	ENSP00000327176:K80N;ENSP00000451530:K80N;ENSP00000384682:K80N;ENSP00000451941:K80N	ENSP00000327176:K80N	K	+	3	2	ZC3H14	88131063	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.955000	0.29188	0.964000	0.38108	0.533000	0.62120	AAA		0.318	ZC3H14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410387.1	NM_024824		C	89061310	A	C	89061310	1	2	817	0	1	0	0	0	0	0	0	0	17571	11	1	5		5	ZC3H14	14	89061310	Intron	SNP	A	TCGA-Y8-A895-01A-11D-A35Z-10	354166	89061310	18288230	69	49089											
EML5	161436	hgsc.bcm.edu	37	14	89128042	89128042	+	Missense_Mutation	SNP	C	C	A			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr14:89128042C>A	ENST00000380664.5	-	25	3630	c.3631G>T	c.(3631-3633)Ggg>Tgg	p.G1211W	EML5_ENST00000554922.1_Missense_Mutation_p.G1211W|EML5_ENST00000352093.5_Missense_Mutation_p.G1173W			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1211						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						AAATCGTCCCCGGTAGCTAGA	0.363																																																0													60	57	58					14																	89128042		1842	4093	5935	SO:0001583	missense	161436			AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"WD repeat domain containing"	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.3631G>T	chr14.hg19:g.89128042C>A	ENSP00000370039:p.Gly1211Trp		B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Missense_Mutation	SNP	ENST00000380664.5	hg19	CCDS45148.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.075896	0.76415	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	T;T;T	0.59083	0.29;0.94;0.29	4.42	4.42	0.53409	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.81163	0.4765	M	0.91768	3.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86422	0.1755	10	0.87932	D	0	-11.0346	17.2287	0.86978	0.0:1.0:0.0:0.0	.	1211;1211	Q05BV3-5;Q05BV3	.;EMAL5_HUMAN	W	1211;1173;1211	ENSP00000451998:G1211W;ENSP00000298315:G1173W;ENSP00000370039:G1211W	ENSP00000298315:G1173W	G	-	1	0	EML5	88197795	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.320000	0.79064	2.284000	0.76573	0.460000	0.39030	GGG		0.363	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1			A	89128042	C	A	89128042	3	1	817	1	0	0	0	0	1	0	0	0	5102	652	23	4	2378	4	EML5	14	89128042	Missense_Mutation	SNP	C	TCGA-Y8-A895-01A-11D-A35Z-10	66732	89128042	18221498	70	49090											
ADSSL1	122622	hgsc.bcm.edu	37	14	105207480	105207480	+	Missense_Mutation	SNP	G	G	T			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr14:105207480G>T	ENST00000330877.2	+	8	778	c.693G>T	c.(691-693)atG>atT	p.M231I	ADSSL1_ENST00000332972.5_Missense_Mutation_p.M274I	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)		TCAGACCCATGGTCCGAGATG	0.612																																																0													88	84	85					14																	105207480		2203	4299	6502	SO:0001583	missense	122622			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.693G>T	chr14.hg19:g.105207480G>T	ENSP00000331260:p.Met231Ile			Missense_Mutation	SNP	ENST00000330877.2	hg19	CCDS9990.1	.	.	.	.	.	.	.	.	.	.	G	18.37	3.609432	0.66558	.	.	ENSG00000185100	ENST00000330877;ENST00000332972	T;T	0.41065	1.01;1.01	5.14	5.14	0.70334	.	0.040897	0.85682	D	0.000000	T	0.47581	0.1453	M	0.64170	1.965	0.80722	D	1	B;B	0.30634	0.288;0.123	B;B	0.34489	0.113;0.184	T	0.52124	-0.8617	10	0.72032	D	0.01	-9.8453	18.57	0.91132	0.0:0.0:1.0:0.0	.	274;231	Q8N142-2;Q8N142	.;PURA1_HUMAN	I	231;274	ENSP00000331260:M231I;ENSP00000333019:M274I	ENSP00000331260:M231I	M	+	3	0	ADSSL1	104278525	1.000000	0.71417	0.998000	0.56505	0.737000	0.42083	9.711000	0.98735	2.394000	0.81467	0.655000	0.94253	ATG		0.612	ADSSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410529.1			T	105207480	G	T	105207480	3	4	817	1	0	0	0	0	1	0	0	0	348	1348	47	4	1048	4	ADSSL1	14	105207480	Missense_Mutation	SNP	G	TCGA-Y8-A895-01A-11D-A35Z-10	16079438	105207480	2142060	71	49091											
HERC2	8924	hgsc.bcm.edu	37	15	28499655	28499655	+	Missense_Mutation	SNP	C	C	T			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr15:28499655C>T	ENST00000261609.7	-	20	2989	c.2881G>A	c.(2881-2883)Gcc>Acc	p.A961T		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)		TCTTTTTTGGCTTCAATATCC	0.403																																																0													81	63	69					15																	28499655		2203	4300	6503	SO:0001583	missense	8924			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.2881G>A	chr15.hg19:g.28499655C>T	ENSP00000261609:p.Ala961Thr			Missense_Mutation	SNP	ENST00000261609.7	hg19	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957966	0.53400	.	.	ENSG00000128731	ENST00000261609	T	0.37915	1.17	5.67	4.76	0.60689	.	0.055869	0.64402	N	0.000001	T	0.30885	0.0779	L	0.44542	1.39	0.80722	D	1	B	0.21452	0.056	B	0.19666	0.026	T	0.06267	-1.0836	10	0.20046	T	0.44	.	14.1746	0.65532	0.0:0.9285:0.0:0.0715	.	961	O95714	HERC2_HUMAN	T	961	ENSP00000261609:A961T	ENSP00000261609:A961T	A	-	1	0	HERC2	26173250	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.086000	0.71352	1.402000	0.46780	0.585000	0.79938	GCC		0.403	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		T	28499655	C	T	28499655	3	4	817	1	0	0	0	0	1	0	0	0	7060	797	28	2	11919	2	HERC2	15	28499655	Missense_Mutation	SNP	C	TCGA-Y8-A895-01A-11D-A35Z-10		28499655	74031737	72	49092											
HERC1	8925	hgsc.bcm.edu	37	15	64025169	64025169	+	Missense_Mutation	SNP	G	G	T			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr15:64025169G>T	ENST00000443617.2	-	14	2909	c.2822C>A	c.(2821-2823)gCt>gAt	p.A941D		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	941					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						CAAAATTTCAGCCAGGTGGGT	0.413																																																0													60	57	58					15																	64025169		1838	4084	5922	SO:0001583	missense	8925			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.2822C>A	chr15.hg19:g.64025169G>T	ENSP00000390158:p.Ala941Asp		Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	hg19	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	G	35	5.519645	0.96416	.	.	ENSG00000103657	ENST00000443617	T	0.32988	1.43	5.67	5.67	0.87782	.	0.000000	0.64402	U	0.000001	T	0.47097	0.1427	L	0.29908	0.895	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	T	0.45086	-0.9285	10	0.72032	D	0.01	.	19.7607	0.96316	0.0:0.0:1.0:0.0	.	941	Q15751	HERC1_HUMAN	D	941	ENSP00000390158:A941D	ENSP00000390158:A941D	A	-	2	0	HERC1	61812222	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.727000	0.98787	2.658000	0.90341	0.655000	0.94253	GCT		0.413	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		T	64025169	G	T	64025169	3	4	817	1	0	0	0	0	1	0	0	0	7059	971	34	4	12023	4	HERC1	15	64025169	Missense_Mutation	SNP	G	TCGA-Y8-A895-01A-11D-A35Z-10	35525514	64025169	38506223	73	49093											
PKD1	5310	hgsc.bcm.edu	37	16	2168325	2168325	+	Missense_Mutation	SNP	G	G	A			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr16:2168325G>A	ENST00000262304.4	-	5	876	c.668C>T	c.(667-669)gCc>gTc	p.A223V	RP11-304L19.2_ENST00000562027.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.A223V	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	223	WSC. {ECO:0000255|PROSITE- ProRule:PRU00558}.				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						CTCCGAGAGGGCTGCGAGGCC	0.706																																																0													1	1	1					16																	2168325		1019	1899	2918	SO:0001583	missense	5310			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.668C>T	chr16.hg19:g.2168325G>A	ENSP00000262304:p.Ala223Val		Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	hg19	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	g	9.660	1.143801	0.21205	.	.	ENSG00000008710	ENST00000262304;ENST00000423118	T;T	0.59638	0.25;0.25	5.0	1.54	0.23209	Carbohydrate-binding WSC (2);Carbohydrate-binding WSC, subgroup (1);Polycystin cation channel (1);	0.130110	0.50627	D	0.000102	T	0.65386	0.2686	M	0.63428	1.95	0.09310	N	1	D;D	0.61080	0.989;0.957	P;P	0.58266	0.836;0.799	T	0.58584	-0.7611	10	0.72032	D	0.01	.	10.6659	0.45731	0.0806:0.3285:0.591:0.0	.	223;223	P98161-3;P98161	.;PKD1_HUMAN	V	223	ENSP00000262304:A223V;ENSP00000399501:A223V	ENSP00000262304:A223V	A	-	2	0	PKD1	2108326	0.746000	0.28272	0.021000	0.16686	0.027000	0.11550	0.703000	0.25646	0.516000	0.28340	0.450000	0.29827	GCC		0.706	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			A	2168325	G	A	2168325	3	1	817	1	0	0	0	0	1	0	0	0	11965	1203	42	2	12411	2	PKD1	16	2168325	Missense_Mutation	SNP	G	TCGA-Y8-A895-01A-11D-A35Z-10		2168325	88186428	74	49094											
MYH11	4629	hgsc.bcm.edu	37	16	15820719	15820720	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr16:15820719_15820720insTT	ENST00000300036.5	-	28	3952_3953	c.3843_3844insAA	c.(3841-3846)aaagtcfs	p.V1282fs	MYH11_ENST00000452625.2_Frame_Shift_Ins_p.V1289fs|AF001548.5_ENST00000574212.1_RNA|MYH11_ENST00000396324.3_Frame_Shift_Ins_p.V1289fs|MYH11_ENST00000576790.2_Frame_Shift_Ins_p.V1282fs	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1282					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						AGCTTGTGGACTTTGTCATTGA	0.639			T	CBFB	AML																																		Dom	yes		16	16p13.13-p13.12	4629	"myosin, heavy polypeptide 11, smooth muscle"		L	0																																										SO:0001589	frameshift_variant	4629			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.3842_3843dupAA	chr16.hg19:g.15820720_15820721dupTT	ENSP00000300036:p.Val1282fs		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Frame_Shift_Ins	INS	ENST00000300036.5	hg19	CCDS10565.1																																																																																				0.639	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		TT	15820720	-	TT	15820719	7	5	817	1	0	1	1	0	0	0	0	0	10033	565	20	0	2165	0	MYH11	16	15820719	Frame_Shift_Ins	INS	-	TCGA-Y8-A895-01A-11D-A35Z-10	13652394	15820719	74534034	75	49095											
ANKS4B	257629	hgsc.bcm.edu	37	16	21261239	21261239	+	Missense_Mutation	SNP	G	G	C			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr16:21261239G>C	ENST00000311620.5	+	2	425	c.352G>C	c.(352-354)Gac>Cac	p.D118H		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	118					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)		TGCTCTCCTGGACAAGGCTGC	0.522																																																0													65	64	65					16																	21261239		2106	4244	6350	SO:0001583	missense	257629			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.352G>C	chr16.hg19:g.21261239G>C	ENSP00000308772:p.Asp118His			Missense_Mutation	SNP	ENST00000311620.5	hg19	CCDS42130.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.430655	0.83776	.	.	ENSG00000175311	ENST00000311620	T	0.63913	-0.07	5.81	5.81	0.92471	Ankyrin repeat-containing domain (4);	0.106321	0.64402	D	0.000011	T	0.65344	0.2682	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73193	-0.4060	10	0.72032	D	0.01	-25.3375	19.0439	0.93012	0.0:0.0:1.0:0.0	.	118	Q8N8V4	ANS4B_HUMAN	H	118	ENSP00000308772:D118H	ENSP00000308772:D118H	D	+	1	0	ANKS4B	21168740	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.813000	0.99286	2.741000	0.93983	0.591000	0.81541	GAC		0.522	ANKS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436535.1	NM_145865		C	21261239	G	C	21261239	3	2	817	1	0	0	0	0	1	0	0	0	691	1174	41	4	358	4	ANKS4B	16	21261239	Missense_Mutation	SNP	G	TCGA-Y8-A895-01A-11D-A35Z-10	5440520	21261239	69093514	76	49096											
IL4R	3566	hgsc.bcm.edu	37	16	27374814	27374814	+	Nonsense_Mutation	SNP	C	C	A	rs370734074		TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr16:27374814C>A	ENST00000395762.2	+	11	2400	c.2141C>A	c.(2140-2142)tCa>tAa	p.S714*	IL4R_ENST00000380922.3_Nonsense_Mutation_p.S699*|IL4R_ENST00000170630.2_Nonsense_Mutation_p.S714*|IL4R_ENST00000543915.2_Nonsense_Mutation_p.S714*	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	714					defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						ATTGTCTACTCAGCCCTTACC	0.627																																																0													65	62	63					16																	27374814		2197	4300	6497	SO:0001587	stop_gained	3566			X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"Interleukins and interleukin receptors", "CD molecules"	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.2141C>A	chr16.hg19:g.27374814C>A	ENSP00000379111:p.Ser714*		B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Nonsense_Mutation	SNP	ENST00000395762.2	hg19	CCDS10629.1	.	.	.	.	.	.	.	.	.	.	C	42	9.662478	0.99233	.	.	ENSG00000077238	ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630	.	.	.	5.18	5.18	0.71444	.	0.679297	0.12852	N	0.433821	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-28.6605	14.1998	0.65696	0.0:1.0:0.0:0.0	.	.	.	.	X	714;714;699;714	.	ENSP00000170630:S714X	S	+	2	0	IL4R	27282315	0.962000	0.33011	0.972000	0.41901	0.945000	0.59286	2.233000	0.43027	2.415000	0.81967	0.655000	0.94253	TCA		0.627	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4			A	27374814	C	A	27374814	4	1	817	1	0	0	0	0	0	1	0	0	7700	838	29	4	2193	4	IL4R	16	27374814	Nonsense_Mutation	SNP	C	TCGA-Y8-A895-01A-11D-A35Z-10	6113575	27374814	62979939	77	49097											
ZNF629	23361	hgsc.bcm.edu	37	16	30794005	30794005	+	Silent	SNP	G	G	A	rs372927017		TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr16:30794005G>A	ENST00000262525.4	-	3	1851	c.1644C>T	c.(1642-1644)ggC>ggT	p.G548G	RP11-2C24.6_ENST00000575562.1_RNA	NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	548					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|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)			GCAGGCTGTCGCCCTGGGCCC	0.692																																																0								G		0,4036		0,0,2018	18	19	18		1644	-11.6	0	16		18	1,8315		0,1,4157	no	coding-synonymous	ZNF629	NM_001080417.1		0,1,6175	AA,AG,GG		0.012,0.0,0.0081		548/870	30794005	1,12351	2018	4158	6176	SO:0001819	synonymous_variant	23361			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.1644C>T	chr16.hg19:g.30794005G>A			Q15938	Silent	SNP	ENST00000262525.4	hg19	CCDS45463.1																																																																																				0.692	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434291.1	NM_015309		A	30794005	G	A	30794005	2	1	817	1	0	0	0	0	0	0	0	1	18058	1074	38	1		1	ZNF629	16	30794005	Silent	SNP	G	TCGA-Y8-A895-01A-11D-A35Z-10	3419191	30794005	59560748	78	49098											
CHD9	80205	hgsc.bcm.edu	37	16	53301225	53301225	+	Missense_Mutation	SNP	C	C	G			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr16:53301225C>G	ENST00000398510.3	+	20	4427	c.4340C>G	c.(4339-4341)aCt>aGt	p.T1447S	CHD9_ENST00000447540.1_Missense_Mutation_p.T1447S|CHD9_ENST00000564845.1_Missense_Mutation_p.T1447S|CHD9_ENST00000566029.1_Missense_Mutation_p.T1447S			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1447					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)				GTTATTGACACTCCAAGAATT	0.358																																																0													78	75	76					16																	53301225		1862	4111	5973	SO:0001583	missense	80205			AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.4340C>G	chr16.hg19:g.53301225C>G	ENSP00000381522:p.Thr1447Ser		B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	hg19		.	.	.	.	.	.	.	.	.	.	C	23.3	4.396994	0.83120	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000219084	D;D	0.85702	-2.02;-2.02	5.24	5.24	0.73138	.	0.206501	0.33631	N	0.004702	D	0.90225	0.6944	L	0.57536	1.79	0.80722	D	1	B;B;D;D	0.67145	0.024;0.198;0.993;0.996	B;B;D;D	0.73380	0.041;0.343;0.956;0.98	D	0.86487	0.1795	10	0.16420	T	0.52	-6.1431	19.1729	0.93588	0.0:1.0:0.0:0.0	.	973;1447;1447;1447	B4DR07;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	S	1447;1447;973	ENSP00000396345:T1447S;ENSP00000381522:T1447S	ENSP00000219084:T973S	T	+	2	0	CHD9	51858726	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.973000	0.70456	2.588000	0.87417	0.650000	0.86243	ACT		0.358	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		G	53301225	C	G	53301225	3	3	817	1	0	0	0	0	1	0	0	0	3334	565	20	4	4418	4	CHD9	16	53301225	Missense_Mutation	SNP	C	TCGA-Y8-A895-01A-11D-A35Z-10	22507220	53301225	37053528	79	49099											
RPA1	6117	hgsc.bcm.edu	37	17	1787152	1787152	+	Silent	SNP	C	C	T			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr17:1787152C>T	ENST00000254719.5	+	13	1398	c.1288C>T	c.(1288-1290)Cta>Tta	p.L430L		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	430					base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of cell proliferation (GO:0008284)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|DNA replication factor A complex (GO:0005662)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|single-stranded DNA binding (GO:0003697)			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						CATCTCTGATCTAAAGAGCGG	0.502								Nucleotide excision repair (NER)																																								0													169	145	153					17																	1787152		2203	4300	6503	SO:0001819	synonymous_variant	6117			M63488	CCDS11014.1	17p13.3	2008-02-05	2002-08-29		ENSG00000132383	ENSG00000132383			10289	protein-coding gene	gene with protein product		179835	"replication protein A1 (70kD)"			8454588	Standard	NM_002945		Approved	REPA1, RPA70, HSSB, RF-A, RP-A	uc002fto.2	P27694	OTTHUMG00000090579	ENST00000254719.5:c.1288C>T	chr17.hg19:g.1787152C>T			A8K0Y9|Q59ES9	Silent	SNP	ENST00000254719.5	hg19	CCDS11014.1																																																																																				0.502	RPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207118.2	NM_002945		T	1787152	C	T	1787152	2	4	817	1	0	0	0	0	0	0	0	1	13542	912	32	2		2	RPA1	17	1787152	Silent	SNP	C	TCGA-Y8-A895-01A-11D-A35Z-10		1787152	79408058	80	49100											
DNAH9	1770	hgsc.bcm.edu	37	17	11584061	11584062	+	Frame_Shift_Ins	INS	-	-	AC			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr17:11584061_11584062insAC	ENST00000262442.4	+	19	3666_3667	c.3598_3599insAC	c.(3598-3600)aacfs	p.N1200fs	DNAH9_ENST00000454412.2_Frame_Shift_Ins_p.N1200fs	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1200	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)		GAAATGGAACAACATAAAAAAG	0.535																																																0																																										SO:0001589	frameshift_variant	1770			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.3599_3600dupAC	chr17.hg19:g.11584062_11584063dupAC	ENSP00000262442:p.Asn1200fs		A2VCQ8|O15064|O95494|Q9NQ28	Frame_Shift_Ins	INS	ENST00000262442.4	hg19	CCDS11160.1																																																																																				0.535	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		AC	11584062	-	AC	11584061	7	5	817	1	0	1	1	0	0	0	0	0	4610	130	5	0	3672	0	DNAH9	17	11584061	Frame_Shift_Ins	INS	-	TCGA-Y8-A895-01A-11D-A35Z-10	9796909	11584061	69611149	81	49101											
KRT15	3866	hgsc.bcm.edu	37	17	39674603	39674617	+	In_Frame_Del	DEL	GGTCTTGAAGTATTG	GGTCTTGAAGTATTG	-	rs373600329|rs139517360	byFrequency	TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	GGTCTTGAAGTATTG	GGTCTTGAAGTATTG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr17:39674603_39674617delGGTCTTGAAGTATTG	ENST00000254043.3	-	1	4048_4062	c.463_477delCAATACTTCAAGACC	c.(463-477)caatacttcaagaccdel	p.QYFKT155del	KRT15_ENST00000393981.3_In_Frame_Del_p.NTSRP18del|KRT15_ENST00000393976.2_In_Frame_Del_p.QYFKT155del|KRT15_ENST00000393974.3_In_Frame_Del_p.NTSRP18del	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	155	Linker 1.|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.Q155R(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		Breast(137;0.000286)				GCTCTTCAATGGTCTTGAAGTATTGGCTGTAGTCG	0.544																																																1	Substitution - Missense(1)	endometrium(1)																																								SO:0001651	inframe_deletion	3866				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.463_477delCAATACTTCAAGACC	chr17.hg19:g.39674603_39674617delGGTCTTGAAGTATTG	ENSP00000254043:p.Gln155_Thr159del		B3KQY1|B3KRA2|E0CX14|Q53XV8|Q9BUG4	In_Frame_Del	DEL	ENST00000254043.3	hg19	CCDS11398.1																																																																																				0.544	KRT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257301.1	NM_002275		-	39674617	GGTCTTGAAGTATTG	-	39674603	7	5	817	1	0	1	0	1	0	0	0	0	8454	1335	47	0	925	0	KRT15	17	39674603	In_Frame_Del	DEL	GGTCTTGAAGTATTG	TCGA-Y8-A895-01A-11D-A35Z-10	28090542	39674603	41520607	82	49102											
FAM134C	162427	hgsc.bcm.edu	37	17	40744166	40744171	+	In_Frame_Del	DEL	GTCAGG	GTCAGG	-			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	GTCAGG	GTCAGG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr17:40744166_40744171delGTCAGG	ENST00000309428.5	-	2	308_313	c.249_254delCCTGAC	c.(247-255)gccctgaca>gca	p.LT84del	FAM134C_ENST00000543197.1_5'UTR|FAM134C_ENST00000585894.1_5'UTR	NM_178126.3	NP_835227.1	Q86VR2	F134C_HUMAN	family with sequence similarity 134, member C	84						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)		ACGAAGAGATGTCAGGGCAAAAAACC	0.379																																																0																																										SO:0001651	inframe_deletion	162427			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.249_254delCCTGAC	chr17.hg19:g.40744166_40744171delGTCAGG	ENSP00000309432:p.Leu84_Thr85del		B3KR75	In_Frame_Del	DEL	ENST00000309428.5	hg19	CCDS11432.1																																																																																				0.379	FAM134C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450536.1	NM_178126		-	40744171	GTCAGG	-	40744166	7	5	817	1	0	1	0	1	0	0	0	0	5449	1377	48	0	1178	0	FAM134C	17	40744166	In_Frame_Del	DEL	GTCAGG	TCGA-Y8-A895-01A-11D-A35Z-10	1069563	40744166	40451044	83	49103											
TBC1D16	125058	hgsc.bcm.edu	37	17	77987194	77987194	+	Silent	SNP	C	C	T			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr17:77987194C>T	ENST00000310924.2	-	2	268	c.153G>A	c.(151-153)ggG>ggA	p.G51G		NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	51							Rab GTPase activator activity (GO:0005097)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			GCCCCTGCAGCCCCTCCGGCG	0.667																																					Ovarian(14;397 562 4850 31922 49378)											0													11	13	12					17																	77987194		2197	4290	6487	SO:0001819	synonymous_variant	125058			AL157485	CCDS11766.1, CCDS62351.1, CCDS62352.1, CCDS62353.1	17q25.3	2013-07-10				ENSG00000167291			28356	protein-coding gene	gene with protein product						23019362	Standard	NM_019020		Approved	MGC25062, FLJ20748	uc002jxj.4	Q8TBP0		ENST00000310924.2:c.153G>A	chr17.hg19:g.77987194C>T			B9A6L7|I3L1E0|I3L4U2|Q8N3Z4|Q96DH7	Silent	SNP	ENST00000310924.2	hg19	CCDS11766.1																																																																																				0.667	TBC1D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437145.1	NM_019020		T	77987194	C	T	77987194	2	4	817	1	0	0	0	0	0	0	0	1	15610	726	26	2		2	TBC1D16	17	77987194	Silent	SNP	C	TCGA-Y8-A895-01A-11D-A35Z-10	37243028	77987194	3208016	84	49104											
MIDN	90007	hgsc.bcm.edu	37	19	1251579	1251580	+	Frame_Shift_Ins	INS	-	-	C	rs375683589		TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr19:1251579_1251580insC	ENST00000591446.2	+	2	661_662	c.252_253insC	c.(253-255)ctgfs	p.L85fs	MIDN_ENST00000300952.2_Frame_Shift_Ins_p.L85fs			Q504T8	MIDN_HUMAN	midnolin	85	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.					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)		GTTCGGGGAAGCTGCAGGAGTT	0.668																																																0																																										SO:0001589	frameshift_variant	90007			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.253dupC	chr19.hg19:g.1251580_1251580dupC	ENSP00000467679:p.Leu85fs		Q96BW8	Frame_Shift_Ins	INS	ENST00000591446.2	hg19	CCDS32864.1																																																																																				0.668	MIDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449965.2			C	1251580	-	C	1251579	7	5	817	1	0	1	1	0	0	0	0	0	9581	962	34	0	258	0	MIDN	19	1251579	Frame_Shift_Ins	INS	-	TCGA-Y8-A895-01A-11D-A35Z-10		1251579	57877404	85	49105											
CACNA1A	773	hgsc.bcm.edu	37	19	13394119	13394119	+	Missense_Mutation	SNP	C	C	T			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr19:13394119C>T	ENST00000360228.5	-	22	3783	c.3784G>A	c.(3784-3786)Gcc>Acc	p.A1262T	CACNA1A_ENST00000573710.2_Missense_Mutation_p.A1263T	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1263					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	GGGTCCTCGGCGGCCAGGGCG	0.602																																																0													96	104	101					19																	13394119		2181	4283	6464	SO:0001583	missense	773			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.3784G>A	chr19.hg19:g.13394119C>T	ENSP00000353362:p.Ala1262Thr		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	hg19	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.103620	0.76983	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.97505	-4.41	4.92	3.86	0.44501	.	0.000000	0.85682	D	0.000000	D	0.97785	0.9273	M	0.75777	2.31	0.80722	D	1	D;D;D	0.69078	0.987;0.997;0.994	P;P;P	0.62014	0.777;0.897;0.521	D	0.98041	1.0382	10	0.87932	D	0	.	13.5836	0.61917	0.1565:0.8435:0.0:0.0	.	1263;1266;1262	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	T	1262;1266;1263;1263	ENSP00000353362:A1262T	ENSP00000317661:A1263T	A	-	1	0	CACNA1A	13255119	1.000000	0.71417	0.987000	0.45799	0.998000	0.95712	5.699000	0.68310	1.054000	0.40438	0.561000	0.74099	GCC		0.602	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		T	13394119	C	T	13394119	3	4	817	1	0	0	0	0	1	0	0	0	2540	768	27	1	3942	1	CACNA1A	19	13394119	Missense_Mutation	SNP	C	TCGA-Y8-A895-01A-11D-A35Z-10	12142540	13394119	45734864	86	49106											
UNC13A	23025	hgsc.bcm.edu	37	19	17740112	17740112	+	Silent	SNP	G	G	A			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr19:17740112G>A	ENST00000519716.2	-	31	3689	c.3690C>T	c.(3688-3690)ctC>ctT	p.L1230L	UNC13A_ENST00000552293.1_Silent_p.L1230L|UNC13A_ENST00000428389.2_Silent_p.L1318L|UNC13A_ENST00000551649.1_Silent_p.L1230L|UNC13A_ENST00000550896.1_Silent_p.L1228L|UNC13A_ENST00000252773.7_Silent_p.L1230L	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1230	MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				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						CTGCATACTGGAGGAGCACAT	0.572																																																0													86	83	84					19																	17740112		2083	4212	6295	SO:0001819	synonymous_variant	23025			AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.3690C>T	chr19.hg19:g.17740112G>A			E5RHY9	Silent	SNP	ENST00000519716.2	hg19	CCDS46013.2																																																																																				0.572	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		A	17740112	G	A	17740112	2	1	817	1	0	0	0	0	0	0	0	1	16989	1161	41	2		2	UNC13A	19	17740112	Silent	SNP	G	TCGA-Y8-A895-01A-11D-A35Z-10	4345993	17740112	41388871	87	49107											
KLHL26	55295	hgsc.bcm.edu	37	19	18778568	18778568	+	Missense_Mutation	SNP	G	G	A			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr19:18778568G>A	ENST00000300976.4	+	3	451	c.361G>A	c.(361-363)Gcc>Acc	p.A121T	KLHL26_ENST00000596843.1_3'UTR|KLHL26_ENST00000599006.1_Missense_Mutation_p.A121T	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	121	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						CATCGACTTCGCCTACAGCGC	0.667																																																0													71	68	69					19																	18778568		2203	4298	6501	SO:0001583	missense	55295				CCDS12384.1	19p13.11	2013-10-15	2013-02-22		ENSG00000167487	ENSG00000167487		"Kelch-like", "BTB/POZ domain containing"	25623	protein-coding gene	gene with protein product			"kelch-like 26 (Drosophila)"				Standard	XM_006722785		Approved		uc002njz.1	Q53HC5	OTTHUMG00000183114	ENST00000300976.4:c.361G>A	chr19.hg19:g.18778568G>A	ENSP00000300976:p.Ala121Thr		Q8TAP0|Q9NUX3	Missense_Mutation	SNP	ENST00000300976.4	hg19	CCDS12384.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.261341	0.59431	.	.	ENSG00000167487	ENST00000431920;ENST00000300976	T	0.71461	-0.57	5.04	5.04	0.67666	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.82121	0.4968	M	0.68317	2.08	0.80722	D	1	D	0.71674	0.998	D	0.67725	0.953	T	0.83101	-0.0128	10	0.51188	T	0.08	.	17.3648	0.87360	0.0:0.0:1.0:0.0	.	121	Q53HC5	KLH26_HUMAN	T	121	ENSP00000300976:A121T	ENSP00000300976:A121T	A	+	1	0	KLHL26	18639568	1.000000	0.71417	0.988000	0.46212	0.027000	0.11550	6.507000	0.73717	2.341000	0.79615	0.591000	0.81541	GCC		0.667	KLHL26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465145.1	NM_018316		A	18778568	G	A	18778568	3	1	817	1	0	0	0	0	1	0	0	0	8383	1087	38	1	371	1	KLHL26	19	18778568	Missense_Mutation	SNP	G	TCGA-Y8-A895-01A-11D-A35Z-10	1038456	18778568	40350415	88	49108											
ZNF790	388536	hgsc.bcm.edu	37	19	37309949	37309949	+	Missense_Mutation	SNP	A	A	C			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr19:37309949A>C	ENST00000356725.4	-	5	1417	c.1297T>G	c.(1297-1299)Tgg>Ggg	p.W433G	CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TACGAAGCCCAAGTAAAAGTC	0.413																																																0													91	92	92					19																	37309949		2203	4300	6503	SO:0001583	missense	388536			BC057245	CCDS12496.1	19q13.12	2013-01-08			ENSG00000197863	ENSG00000197863		"Zinc fingers, C2H2-type", "-"	33114	protein-coding gene	gene with protein product							Standard	NM_206894		Approved	MGC62100, FLJ20350	uc021utm.1	Q6PG37	OTTHUMG00000165616	ENST00000356725.4:c.1297T>G	chr19.hg19:g.37309949A>C	ENSP00000349161:p.Trp433Gly			Missense_Mutation	SNP	ENST00000356725.4	hg19	CCDS12496.1	.	.	.	.	.	.	.	.	.	.	A	3.322	-0.138613	0.06669	.	.	ENSG00000197863	ENST00000356725	T	0.07327	3.2	3.14	0.93	0.19454	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04770	0.0129	N	0.22421	0.69	0.09310	N	1	P	0.42123	0.771	B	0.39217	0.294	T	0.35101	-0.9802	9	0.27785	T	0.31	.	2.8271	0.05488	0.5719:0.0:0.2386:0.1895	.	433	Q6PG37	ZN790_HUMAN	G	433	ENSP00000349161:W433G	ENSP00000349161:W433G	W	-	1	0	ZNF790	42001789	0.000000	0.05858	0.004000	0.12327	0.486000	0.33341	-2.685000	0.00834	0.021000	0.15133	0.402000	0.26972	TGG		0.413	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385341.2	NM_206894		C	37309949	A	C	37309949	3	2	817	1	0	0	0	0	1	0	0	0	18167	130	5	5	617	5	ZNF790	19	37309949	Missense_Mutation	SNP	A	TCGA-Y8-A895-01A-11D-A35Z-10	18531381	37309949	21819034	89	49109											
ZNF546	339327	hgsc.bcm.edu	37	19	40521132	40521132	+	Missense_Mutation	SNP	T	T	A			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr19:40521132T>A	ENST00000347077.4	+	7	2171	c.1955T>A	c.(1954-1956)cTc>cAc	p.L652H	ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Missense_Mutation_p.L626H	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	652			L -> F (in dbSNP:rs12373540).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AGCACTCATCTCACGCAACAT	0.413																																																0													68	65	66					19																	40521132		2203	4300	6503	SO:0001583	missense	339327			BC045649	CCDS12548.1	19q13.2	2013-01-08				ENSG00000187187		"Zinc fingers, C2H2-type", "-"	28671	protein-coding gene	gene with protein product				ZNF49		12477932	Standard	XM_005258853		Approved	MGC43537	uc002oms.2	Q86UE3		ENST00000347077.4:c.1955T>A	chr19.hg19:g.40521132T>A	ENSP00000339823:p.Leu652His		A8K913	Missense_Mutation	SNP	ENST00000347077.4	hg19	CCDS12548.1	.	.	.	.	.	.	.	.	.	.	t	15.45	2.835827	0.50951	.	.	ENSG00000187187	ENST00000347077;ENST00000392042	T	0.54071	0.59	2.91	2.91	0.33838	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.81024	0.4737	H	0.98612	4.28	0.09310	N	1	D	0.89917	1.0	D	0.81914	0.995	T	0.70662	-0.4810	9	0.72032	D	0.01	.	9.5661	0.39400	0.0:0.0:0.0:1.0	.	652	Q86UE3	ZN546_HUMAN	H	652;261	ENSP00000339823:L652H	ENSP00000339823:L652H	L	+	2	0	ZNF546	45212972	0.327000	0.24678	0.218000	0.23776	0.862000	0.49288	3.930000	0.56522	1.564000	0.49628	0.482000	0.46254	CTC		0.413	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462495.2	NM_178544		A	40521132	T	A	40521132	3	1	817	1	0	0	0	0	1	0	0	0	17983	1551	54	5	1973	5	ZNF546	19	40521132	Missense_Mutation	SNP	T	TCGA-Y8-A895-01A-11D-A35Z-10	3211183	40521132	18607851	90	49110											
ZNF600	162966	hgsc.bcm.edu	37	19	53268927	53268927	+	Nonsense_Mutation	SNP	G	G	C			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr19:53268927G>C	ENST00000338230.3	-	3	2349	c.2082C>G	c.(2080-2082)taC>taG	p.Y694*		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	694					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)		CATTACACTTGTAAGGTTTCT	0.408																																					Esophageal Squamous(196;1235 2112 2375 33339 34207)											0													107	100	102					19																	53268927		2203	4300	6503	SO:0001587	stop_gained	162966			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.2082C>G	chr19.hg19:g.53268927G>C	ENSP00000344791:p.Tyr694*		Q6MZR0	Nonsense_Mutation	SNP	ENST00000338230.3	hg19	CCDS12856.1	.	.	.	.	.	.	.	.	.	.	.	23.9	4.472178	0.84533	.	.	ENSG00000189190	ENST00000338230	.	.	.	1.62	0.531	0.17108	.	.	.	.	.	.	.	.	.	.	.	0.47862	D	0.999534	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.0679	0.14591	0.3334:0.0:0.6666:0.0	.	.	.	.	X	694	.	ENSP00000344791:Y694X	Y	-	3	2	ZNF600	57960739	0.000000	0.05858	0.014000	0.15608	0.009000	0.06853	-1.193000	0.03049	0.938000	0.37419	0.289000	0.19496	TAC		0.408	ZNF600-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463093.1	NM_198457		C	53268927	G	C	53268927	4	2	817	1	0	0	0	0	0	1	0	0	18035	1372	48	4	90	4	ZNF600	19	53268927	Nonsense_Mutation	SNP	G	TCGA-Y8-A895-01A-11D-A35Z-10	12747795	53268927	5860056	91	49111											
TMEM190	147744	hgsc.bcm.edu	37	19	55889450	55889456	+	Frame_Shift_Del	DEL	CGCCGTC	CGCCGTC	-	rs200141569|rs558548585|rs77912983	byFrequency	TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	CGCCGTC	CGCCGTC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr19:55889450_55889456delCGCCGTC	ENST00000291934.3	+	5	431_437	c.413_419delCGCCGTC	c.(412-420)acgccgtccfs	p.TPS138fs	CTD-2105E13.15_ENST00000595064.1_RNA	NM_139172.1	NP_631911.1	Q8WZ59	TM190_HUMAN	transmembrane protein 190	138					hematopoietic progenitor cell differentiation (GO:0002244)	inner acrosomal membrane (GO:0002079)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	5	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		ACCAAGAAGACGCCGTCCACGGGCAGC	0.657																																																0																																										SO:0001589	frameshift_variant	147744			AF442729	CCDS33113.1	19q13.42	2011-09-28				ENSG00000160472			29632	protein-coding gene	gene with protein product						21273369	Standard	NM_139172		Approved	MDAC1	uc002qkt.1	Q8WZ59		ENST00000291934.3:c.413_419delCGCCGTC	chr19.hg19:g.55889450_55889456delCGCCGTC	ENSP00000291934:p.Thr138fs		A6NJL5	Frame_Shift_Del	DEL	ENST00000291934.3	hg19	CCDS33113.1																																																																																				0.657	TMEM190-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453042.1	NM_139172		-	55889456	CGCCGTC	-	55889450	7	5	817	1	0	1	0	1	0	0	0	0	16119	536	19	0	431	0	TMEM190	19	55889450	Frame_Shift_Del	DEL	CGCCGTC	TCGA-Y8-A895-01A-11D-A35Z-10	2620523	55889450	3239533	92	49112	527	2									
TMEM190	147744	hgsc.bcm.edu	37	19	55889460	55889460	+	Silent	SNP	G	G	C			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr19:55889460G>C	ENST00000291934.3	+	5	441	c.423G>C	c.(421-423)acG>acC	p.T141T	CTD-2105E13.15_ENST00000595064.1_RNA	NM_139172.1	NP_631911.1	Q8WZ59	TM190_HUMAN	transmembrane protein 190	141					hematopoietic progenitor cell differentiation (GO:0002244)	inner acrosomal membrane (GO:0002079)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	5	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CGCCGTCCACGGGCAGCGTGC	0.647																																																0													36	35	35					19																	55889460		2200	4300	6500	SO:0001819	synonymous_variant	147744			AF442729	CCDS33113.1	19q13.42	2011-09-28				ENSG00000160472			29632	protein-coding gene	gene with protein product						21273369	Standard	NM_139172		Approved	MDAC1	uc002qkt.1	Q8WZ59		ENST00000291934.3:c.423G>C	chr19.hg19:g.55889460G>C			A6NJL5	Silent	SNP	ENST00000291934.3	hg19	CCDS33113.1																																																																																				0.647	TMEM190-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453042.1	NM_139172		C	55889460	G	C	55889460	2	2	817	1	0	0	0	0	0	0	0	1	16119	1103	39	4		4	TMEM190	19	55889460	Silent	SNP	G	TCGA-Y8-A895-01A-11D-A35Z-10	10	55889460	3239523	93	49113	527	2									
ZNF444	55311	hgsc.bcm.edu	37	19	56671522	56671522	+	Silent	SNP	T	T	A			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr19:56671522T>A	ENST00000337080.3	+	5	1303	c.936T>A	c.(934-936)gcT>gcA	p.A312A	ZNF444_ENST00000592949.1_Silent_p.A311A	NM_001253792.1|NM_018337.3	NP_001240721.1|NP_060807.2	Q8N0Y2	ZN444_HUMAN	zinc finger protein 444	312					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)		GGGCGGTAGCTCCGGGCCCGG	0.766																																																0													2	3	3					19																	56671522		1380	3123	4503	SO:0001819	synonymous_variant	55311			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.936T>A	chr19.hg19:g.56671522T>A			Q8TEQ9|Q8WU35|Q9NUU1	Silent	SNP	ENST00000337080.3	hg19	CCDS12939.1																																																																																				0.766	ZNF444-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457503.1	NM_018337		A	56671522	T	A	56671522	2	1	817	1	0	0	0	0	0	0	0	1	17922	1538	54	5		5	ZNF444	19	56671522	Silent	SNP	T	TCGA-Y8-A895-01A-11D-A35Z-10	782062	56671522	2457461	94	49114											
COMMD7	149951	hgsc.bcm.edu	37	20	31292673	31292673	+	Missense_Mutation	SNP	C	C	T			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr20:31292673C>T	ENST00000278980.6	-	6	975	c.370G>A	c.(370-372)Gcc>Acc	p.A124T	COMMD7_ENST00000446419.2_Missense_Mutation_p.A123T	NM_001099339.1|NM_053041.2	NP_001092809.1|NP_444269.2	Q86VX2	COMD7_HUMAN	COMM domain containing 7	124					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription, DNA-templated (GO:0045892)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	extracellular vesicular exosome (GO:0070062)	NF-kappaB binding (GO:0051059)			breast(1)|endometrium(1)|lung(3)	5						TGACCTATGGCCCATCGAGCA	0.458																																																0													96	90	92					20																	31292673		1935	4140	6075	SO:0001583	missense	149951			AY542162	CCDS42864.1, CCDS46587.1	20q11	2004-03-02	2004-02-13	2004-02-18	ENSG00000149600	ENSG00000149600			16223	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 92"	C20orf92		15799966	Standard	NM_001099339		Approved	dJ1085F17.3	uc002wya.4	Q86VX2	OTTHUMG00000032229	ENST00000278980.6:c.370G>A	chr20.hg19:g.31292673C>T	ENSP00000278980:p.Ala124Thr		A2BHJ2|B3KTZ2|Q5JYB0|Q96SI7|Q9BW53	Missense_Mutation	SNP	ENST00000278980.6	hg19	CCDS42864.1	.	.	.	.	.	.	.	.	.	.	c	20.1	3.936810	0.73557	.	.	ENSG00000149600	ENST00000278980;ENST00000446419	T;T	0.10288	2.89;2.89	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.24928	0.0605	M	0.72894	2.215	0.80722	D	1	P;D	0.58268	0.873;0.982	P;P	0.53988	0.523;0.739	T	0.00216	-1.1910	10	0.35671	T	0.21	.	15.9723	0.80031	0.0:1.0:0.0:0.0	.	123;124	Q86VX2-2;Q86VX2	.;COMD7_HUMAN	T	124;123	ENSP00000278980:A124T;ENSP00000395339:A123T	ENSP00000278980:A124T	A	-	1	0	COMMD7	30756334	1.000000	0.71417	0.995000	0.50966	0.359000	0.29487	5.844000	0.69430	2.788000	0.95919	0.650000	0.86243	GCC		0.458	COMMD7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078648.2	NM_053041		T	31292673	C	T	31292673	3	4	817	1	0	0	0	0	1	0	0	0	3723	739	26	2	248	2	COMMD7	20	31292673	Missense_Mutation	SNP	C	TCGA-Y8-A895-01A-11D-A35Z-10		31292673	31732847	95	49115											
MYH7B	57644	hgsc.bcm.edu	37	20	33585257	33585257	+	Missense_Mutation	SNP	G	G	T			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr20:33585257G>T	ENST00000262873.7	+	30	3779	c.3687G>T	c.(3685-3687)gaG>gaT	p.E1229D		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	1187						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)			AGCTGGAGGAGGCGGCGCTGC	0.786																																																0													3	5	5					20																	33585257		1494	3137	4631	SO:0001583	missense	57644			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.3687G>T	chr20.hg19:g.33585257G>T	ENSP00000262873:p.Glu1229Asp		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	hg19	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.664731	0.67700	.	.	ENSG00000078814	ENST00000262873	D	0.86865	-2.18	4.73	1.66	0.24008	Myosin tail (1);	0.000000	0.38326	N	0.001738	D	0.83575	0.5284	M	0.71036	2.16	0.42950	D	0.994374	B	0.25235	0.121	B	0.22601	0.04	T	0.79626	-0.1725	10	0.54805	T	0.06	.	8.5311	0.33335	0.3076:0.0:0.6924:0.0	.	1187	A7E2Y1	MYH7B_HUMAN	D	1229	ENSP00000262873:E1229D	ENSP00000262873:E1229D	E	+	3	2	MYH7B	33048918	1.000000	0.71417	0.980000	0.43619	0.956000	0.61745	2.850000	0.48294	0.612000	0.30071	0.563000	0.77884	GAG		0.786	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		T	33585257	G	T	33585257	3	4	817	1	0	0	0	0	1	0	0	0	10042	991	35	4	3805	4	MYH7B	20	33585257	Missense_Mutation	SNP	G	TCGA-Y8-A895-01A-11D-A35Z-10	2292584	33585257	29440263	96	49116											
BCR	613	hgsc.bcm.edu	37	22	23632573	23632573	+	Missense_Mutation	SNP	T	T	G			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr22:23632573T>G	ENST00000305877.8	+	14	3506	c.2755T>G	c.(2755-2757)Tca>Gca	p.S919A	BCR_ENST00000359540.3_Missense_Mutation_p.S919A	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	919	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of phagocytosis (GO:0050766)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35					Bosutinib(DB06616)|Ponatinib(DB08901)	CATCGTCCACTCAGCCACTGG	0.557			T	"ABL1,  FGFR1, JAK2 "	"CML, ALL, AML"						OREG0026390	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											Dom	yes		22	22q11.21	613	breakpoint cluster region		L	0													216	206	209					22																	23632573		2203	4300	6503	SO:0001583	missense	613				CCDS13806.1, CCDS13807.1	22q11	2013-01-10			ENSG00000186716	ENSG00000186716		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	1014	protein-coding gene	gene with protein product		151410		D22S11, BCR1		1657398, 18070886	Standard	NM_004327		Approved	D22S662, CML, PHL, ALL	uc002zww.3	P11274	OTTHUMG00000150655	ENST00000305877.8:c.2755T>G	chr22.hg19:g.23632573T>G	ENSP00000303507:p.Ser919Ala	765	P78501|Q12842|Q4LE80|Q6NZI3	Missense_Mutation	SNP	ENST00000305877.8	hg19	CCDS13806.1	.	.	.	.	.	.	.	.	.	.	T	27.2	4.807539	0.90623	.	.	ENSG00000186716	ENST00000305877;ENST00000359540;ENST00000334149	T;T	0.81078	0.94;-1.45	4.47	4.47	0.54385	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.82875	0.5132	L	0.49126	1.545	0.80722	D	1	D;P;P	0.55605	0.972;0.924;0.877	P;P;P	0.55615	0.679;0.747;0.78	T	0.82853	-0.0252	10	0.41790	T	0.15	.	13.6416	0.62255	0.0:0.0:0.0:1.0	.	508;919;919	B4E065;P11274-2;P11274	.;.;BCR_HUMAN	A	919;919;584	ENSP00000303507:S919A;ENSP00000352535:S919A	ENSP00000303507:S919A	S	+	1	0	BCR	21962573	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.790000	0.85794	1.961000	0.56991	0.529000	0.55759	TCA		0.557	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075819.1	NM_004327		G	23632573	T	G	23632573	3	3	817	1	0	0	0	0	1	0	0	0	1388	1551	54	5	2809	5	BCR	22	23632573	Missense_Mutation	SNP	T	TCGA-Y8-A895-01A-11D-A35Z-10		23632573	27671993	97	49117											
HSCB	150274	hgsc.bcm.edu	37	22	29138082	29138085	+	Start_Codon_Del	DEL	AGAT	AGAT	-			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	AGAT	AGAT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chr22:29138082_29138085delAGAT	ENST00000216027.3	+	0	64_67				CHEK2_ENST00000382565.1_5'Flank|CHEK2_ENST00000544772.1_5'UTR|CHEK2_ENST00000348295.3_5'Flank|CHEK2_ENST00000328354.6_5'Flank|CHEK2_ENST00000405598.1_5'Flank|HSCB_ENST00000398941.2_Start_Codon_Del|CHEK2_ENST00000382578.1_5'Flank|CHEK2_ENST00000382580.2_5'Flank|CHEK2_ENST00000382566.1_5'Flank	NM_172002.3	NP_741999.3	Q8IWL3	HSC20_HUMAN	HscB mitochondrial iron-sulfur cluster co-chaperone						iron-sulfur cluster assembly (GO:0016226)|protein folding (GO:0006457)|protein oligomerization (GO:0051259)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			kidney(1)|lung(2)|skin(1)	4						GCCGCCGGCCAGATGTGGCGGGGG	0.642																																																0																																										SO:0001582	initiator_codon_variant	150274			AY191719	CCDS13845.1	22q12.1	2013-09-12	2013-09-12		ENSG00000100209	ENSG00000100209		"Heat shock proteins / DNAJ (HSP40)"	28913	protein-coding gene	gene with protein product	"DnaJ (Hsp40) homolog, subfamily C, member 20"	608142	"HscB iron-sulfur cluster co-chaperone homolog (E. coli)"			12938016, 16952052	Standard	NM_172002		Approved	HSC20, DNAJC20, Jac1	uc003aea.3	Q8IWL3	OTTHUMG00000151092		chr22.hg19:g.29138082_29138085delAGAT			Q9BWS7	Frame_Shift_Del	DEL	ENST00000216027.3	hg19	CCDS13845.1																																																																																				0.642	HSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321263.1	NM_172002		-	29138085	AGAT	-	29138082	7	5	817	1	0	1	0	1	0	0	0	0	7376	203	7	0	1	0	HSCB	22	29138082	Start_Codon_Del	DEL	AGAT	TCGA-Y8-A895-01A-11D-A35Z-10	5505509	29138082	22166484	98	49118											
AKAP4	8852	hgsc.bcm.edu	37	X	49957181	49957181	+	Missense_Mutation	SNP	G	G	T			TCGA-Y8-A895-01A-11D-A35Z-10	TCGA-Y8-A895-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ddcb521-adce-4fcc-8f3b-0cfd15f4274b	404c87ca-74c1-4140-bb3c-0186ece2d39e	g.chrX:49957181G>T	ENST00000376056.2	-	5	2306	c.2156C>A	c.(2155-2157)gCa>gAa	p.A719E	AKAP4_ENST00000376064.3_Missense_Mutation_p.A719E|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Missense_Mutation_p.A345E|AKAP4_ENST00000358526.2_Missense_Mutation_p.A728E					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)					TGCCGAGGCTGCTTGTTCTTC	0.448																																																0													100	73	82					X																	49957181		2203	4300	6503	SO:0001583	missense	8852			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.2156C>A	chrX.hg19:g.49957181G>T	ENSP00000365224:p.Ala719Glu			Missense_Mutation	SNP	ENST00000376056.2	hg19	CCDS14330.1	.	.	.	.	.	.	.	.	.	.	G	9.242	1.038460	0.19669	.	.	ENSG00000147081	ENST00000376056;ENST00000376058;ENST00000358526;ENST00000376064	T;T;T;T	0.07327	3.2;3.2;3.2;3.2	4.82	3.94	0.45596	A-kinase anchor 110kDa, C-terminal (1);	0.251365	0.27927	N	0.017300	T	0.09598	0.0236	M	0.63428	1.95	0.28373	N	0.9199	B;P	0.34934	0.018;0.476	B;B	0.32393	0.031;0.145	T	0.09952	-1.0651	9	.	.	.	-6.048	9.5338	0.39209	0.0:0.0:0.7893:0.2107	.	728;345	Q5JQC9;A6ND82	AKAP4_HUMAN;.	E	719;345;728;719	ENSP00000365224:A719E;ENSP00000365226:A345E;ENSP00000351327:A728E;ENSP00000365232:A719E	.	A	-	2	0	AKAP4	49843921	0.109000	0.22037	0.627000	0.29227	0.261000	0.26267	0.407000	0.21049	0.805000	0.34159	0.529000	0.55759	GCA		0.448	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056552.1	NM_003886		T	49957181	G	T	49957181	3	4	817	1	0	0	0	0	1	0	0	0	453	1319	46	4	389	4	AKAP4	23	49957181	Missense_Mutation	SNP	G	TCGA-Y8-A895-01A-11D-A35Z-10		49957181	105313379	99	49119											
ESPN	83715	hgsc.bcm.edu	37	1	6517308	6517308	+	Missense_Mutation	SNP	A	A	G			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr1:6517308A>G	ENST00000377828.1	+	11	2558	c.2390A>G	c.(2389-2391)aAg>aGg	p.K797R	ESPN_ENST00000416731.1_Missense_Mutation_p.K231R|ESPN_ENST00000475228.1_3'UTR|ESPN_ENST00000461727.1_Missense_Mutation_p.K231R	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	797	Glu-rich.				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)		CTGCGGAAGAAGCTGGAAGAA	0.637																																																0													31	35	34					1																	6517308		2203	4300	6503	SO:0001583	missense	83715			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.2390A>G	chr1.hg19:g.6517308A>G	ENSP00000367059:p.Lys797Arg		Q6XYB2|Q9H0A2|Q9Y329	Missense_Mutation	SNP	ENST00000377828.1	hg19	CCDS70.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.661993	0.88251	.	.	ENSG00000187017	ENST00000377828;ENST00000416731	D;D	0.87650	-2.28;-2.28	5.08	5.08	0.68730	.	0.600841	0.16868	N	0.196249	D	0.91758	0.7393	L	0.56769	1.78	0.39690	D	0.971021	D;D	0.76494	0.999;0.998	D;D	0.80764	0.994;0.993	D	0.92281	0.5833	10	0.66056	D	0.02	-26.7453	13.6632	0.62378	1.0:0.0:0.0:0.0	.	231;797	B1AK53-2;B1AK53	.;ESPN_HUMAN	R	797;231	ENSP00000367059:K797R;ENSP00000399239:K231R	ENSP00000367059:K797R	K	+	2	0	ESPN	6439895	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	8.312000	0.89976	1.903000	0.55091	0.459000	0.35465	AAG		0.637	ESPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001887.3	NM_031475		G	6517308	A	G	6517308	3	3	818	1	0	0	0	0	1	0	0	0	5256	72	3	3	2432	3	ESPN	1	6517308	Missense_Mutation	SNP	A	TCGA-Y8-A896-01A-11D-A35Z-10		6517308	242733313	1	49120											
SPEN	23013	hgsc.bcm.edu	37	1	16199544	16199544	+	Missense_Mutation	SNP	G	G	T			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr1:16199544G>T	ENST00000375759.3	+	2	521	c.317G>T	c.(316-318)gGg>gTg	p.G106V		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	106					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)		GAGGTTTCTGGGTTCAGAGGA	0.532																																																0													113	102	106					1																	16199544		2203	4300	6503	SO:0001583	missense	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.317G>T	chr1.hg19:g.16199544G>T	ENSP00000364912:p.Gly106Val		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	hg19	CCDS164.1	.	.	.	.	.	.	.	.	.	.	G	12.51	1.959099	0.34565	.	.	ENSG00000065526	ENST00000375759	T	0.11604	2.76	5.57	5.57	0.84162	.	.	.	.	.	T	0.22781	0.0550	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.72075	0.976	T	0.00327	-1.1814	9	0.62326	D	0.03	0.0158	14.7284	0.69362	0.0713:0.0:0.9287:0.0	.	106	Q96T58	MINT_HUMAN	V	106	ENSP00000364912:G106V	ENSP00000364912:G106V	G	+	2	0	SPEN	16072131	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.659000	0.83766	2.635000	0.89317	0.555000	0.69702	GGG		0.532	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		T	16199544	G	T	16199544	3	4	818	1	0	0	0	0	1	0	0	0	15043	1232	43	4	323	4	SPEN	1	16199544	Missense_Mutation	SNP	G	TCGA-Y8-A896-01A-11D-A35Z-10	9682236	16199544	233051077	2	49121											
AHDC1	27245	hgsc.bcm.edu	37	1	27874121	27874121	+	Silent	SNP	G	G	A			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr1:27874121G>A	ENST00000247087.5	-	5	5102	c.4506C>T	c.(4504-4506)gcC>gcT	p.A1502A	AHDC1_ENST00000374011.2_Silent_p.A1502A			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1502							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)		CCAGGTGAGGGGCACTGAGGC	0.711																																																0													12	11	12					1																	27874121		2174	4277	6451	SO:0001819	synonymous_variant	27245			AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.4506C>T	chr1.hg19:g.27874121G>A			Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Silent	SNP	ENST00000247087.5	hg19	CCDS30652.1																																																																																				0.711	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			A	27874121	G	A	27874121	2	1	818	1	0	0	0	0	0	0	0	1	412	1219	43	2		2	AHDC1	1	27874121	Silent	SNP	G	TCGA-Y8-A896-01A-11D-A35Z-10	11674577	27874121	221376500	3	49122											
C1orf123	54987	hgsc.bcm.edu	37	1	53684086	53684086	+	Splice_Site	SNP	C	C	G			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr1:53684086C>G	ENST00000294360.4	-	4	270	c.229G>C	c.(229-231)Gag>Cag	p.E77Q	RP5-1024G6.7_ENST00000569869.1_RNA|C1orf123_ENST00000470385.1_5'UTR	NM_017887.1	NP_060357.1	Q9NWV4	CA123_HUMAN	chromosome 1 open reading frame 123	77						extracellular vesicular exosome (GO:0070062)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|pancreas(2)|skin(1)	6						CCTGACCTACCGATGGAATTT	0.562																																																0													112	87	96					1																	53684086		2203	4300	6503	SO:0001630	splice_region_variant	54987			BC010908	CCDS576.1	1p32.3	2011-02-18			ENSG00000162384	ENSG00000162384			26059	protein-coding gene	gene with protein product						12477932	Standard	NM_017887		Approved	FLJ20580	uc001cvd.3	Q9NWV4	OTTHUMG00000008940	ENST00000294360.4:c.229+1G>C	chr1.hg19:g.53684086C>G				Missense_Mutation	SNP	ENST00000294360.4	hg19	CCDS576.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.173882	0.78452	.	.	ENSG00000162384	ENST00000294360;ENST00000371480	.	.	.	5.15	5.15	0.70609	.	0.259745	0.42420	D	0.000720	T	0.44519	0.1297	N	0.20685	0.6	0.43959	D	0.996632	P;P	0.42908	0.637;0.793	B;B	0.43838	0.33;0.433	T	0.31586	-0.9938	8	.	.	.	-7.8057	18.6318	0.91363	0.0:1.0:0.0:0.0	.	47;77	D3DQ38;Q9NWV4	.;CA123_HUMAN	Q	77;58	.	.	E	-	1	0	C1orf123	53456674	1.000000	0.71417	0.983000	0.44433	0.886000	0.51366	7.300000	0.78841	2.404000	0.81709	0.655000	0.94253	GAG		0.562	C1orf123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024751.1	NM_017887	Missense_Mutation	G	53684086	C	G	53684086	5	3	818	1	0	0	0	0	0	0	1	0	1993	666	23	4	273	4	C1orf123	1	53684086	Splice_Site	SNP	C	TCGA-Y8-A896-01A-11D-A35Z-10	25809965	53684086	195566535	4	49123											
ATXN7L2	127002	hgsc.bcm.edu	37	1	110031671	110031671	+	Missense_Mutation	SNP	G	G	A			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr1:110031671G>A	ENST00000369870.3	+	7	1001	c.986G>A	c.(985-987)aGc>aAc	p.S329N		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	329										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		GCTCCCAGCAGCACCTTCTCT	0.612																																																0													65	60	61					1																	110031671		2203	4300	6503	SO:0001583	missense	127002			BC037582	CCDS30794.1	1p13.2	2008-02-05			ENSG00000162650	ENSG00000162650			28713	protein-coding gene	gene with protein product						12477932	Standard	NM_153340		Approved	MGC46534, FLJ00381	uc001dxr.3	Q5T6C5	OTTHUMG00000011027	ENST00000369870.3:c.986G>A	chr1.hg19:g.110031671G>A	ENSP00000358886:p.Ser329Asn			Missense_Mutation	SNP	ENST00000369870.3	hg19	CCDS30794.1	.	.	.	.	.	.	.	.	.	.	G	10.37	1.332103	0.24167	.	.	ENSG00000162650	ENST00000369870;ENST00000541125	T	0.32272	1.46	5.97	0.693	0.18056	.	0.533090	0.19790	N	0.106016	T	0.03011	0.0089	N	0.02011	-0.69	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.32587	-0.9901	10	0.19590	T	0.45	-1.696	5.8764	0.18832	0.2166:0.2562:0.5272:0.0	.	329	Q5T6C5	AT7L2_HUMAN	N	329	ENSP00000358886:S329N	ENSP00000358886:S329N	S	+	2	0	ATXN7L2	109833194	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	1.475000	0.35409	0.130000	0.18549	-0.136000	0.14681	AGC		0.612	ATXN7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030331.1	NM_153340		A	110031671	G	A	110031671	3	1	818	1	0	0	0	0	1	0	0	0	1217	971	34	2	1012	2	ATXN7L2	1	110031671	Missense_Mutation	SNP	G	TCGA-Y8-A896-01A-11D-A35Z-10	56347585	110031671	139218950	5	49124											
NUP210L	91181	hgsc.bcm.edu	37	1	154099879	154099879	+	Missense_Mutation	SNP	G	G	A			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr1:154099879G>A	ENST00000368559.3	-	9	1164	c.1093C>T	c.(1093-1095)Cct>Tct	p.P365S	NUP210L_ENST00000271854.3_Missense_Mutation_p.P365S	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	365					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)			CGGTTTCCAGGTTGGACAGTG	0.353																																																0													74	68	70					1																	154099879		1821	4086	5907	SO:0001583	missense	91181			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.1093C>T	chr1.hg19:g.154099879G>A	ENSP00000357547:p.Pro365Ser		E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	hg19	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.584027	0.46110	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	T;T	0.04406	3.63;3.63	4.44	4.44	0.53790	.	0.000000	0.52532	D	0.000061	T	0.02571	0.0078	L	0.42581	1.335	0.45366	D	0.998358	B;B	0.29766	0.256;0.162	B;B	0.21917	0.037;0.023	T	0.40175	-0.9577	10	0.56958	D	0.05	-0.9036	15.0178	0.71600	0.0:0.0:1.0:0.0	.	365;365	E7EP56;Q5VU65	.;P210L_HUMAN	S	365	ENSP00000357547:P365S;ENSP00000271854:P365S	ENSP00000271854:P365S	P	-	1	0	NUP210L	152366503	1.000000	0.71417	0.933000	0.37362	0.876000	0.50452	4.820000	0.62671	2.302000	0.77476	0.313000	0.20887	CCT		0.353	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		A	154099879	G	A	154099879	3	1	818	1	0	0	0	0	1	0	0	0	10763	1261	44	2	4701	2	NUP210L	1	154099879	Missense_Mutation	SNP	G	TCGA-Y8-A896-01A-11D-A35Z-10	44068208	154099879	95150742	6	49125											
KCNN3	3782	hgsc.bcm.edu	37	1	154842333	154842333	+	Silent	SNP	C	C	T			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr1:154842333C>T	ENST00000271915.4	-	1	423	c.108G>A	c.(106-108)caG>caA	p.Q36Q	KCNN3_ENST00000358505.2_5'Flank	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	36	Gln-rich.				potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	gctgctgttgctgctgctgct	0.672																																																0													8	8	8					1																	154842333		1967	3874	5841	SO:0001819	synonymous_variant	3782			AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.108G>A	chr1.hg19:g.154842333C>T			B1ANX0|O43517|Q86VF9|Q8WXG7	Silent	SNP	ENST00000271915.4	hg19	CCDS30880.1																																																																																				0.672	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		T	154842333	C	T	154842333	2	4	818	1	0	0	0	0	0	0	0	1	8082	796	28	2		2	KCNN3	1	154842333	Silent	SNP	C	TCGA-Y8-A896-01A-11D-A35Z-10	742454	154842333	94408288	7	49126											
F5	2153	hgsc.bcm.edu	37	1	169528453	169528453	+	Missense_Mutation	SNP	C	C	A			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr1:169528453C>A	ENST00000367797.3	-	5	869	c.668G>T	c.(667-669)aGc>aTc	p.S223I	F5_ENST00000546081.1_Missense_Mutation_p.S86I|F5_ENST00000367796.3_Missense_Mutation_p.S223I	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	223	F5/8 type A 1.|Plastocyanin-like 2.				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)	CTGGCTCCAGCTCTTGCTTTC	0.443																																																0													172	135	147					1																	169528453		2203	4300	6503	SO:0001583	missense	2153			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.668G>T	chr1.hg19:g.169528453C>A	ENSP00000356771:p.Ser223Ile		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	hg19	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.651866	0.88056	.	.	ENSG00000198734	ENST00000367797;ENST00000367796;ENST00000546081	D;D;D	0.99105	-5.43;-5.43;-5.43	5.95	5.04	0.67666	Cupredoxin (2);	0.035814	0.85682	D	0.000000	D	0.99293	0.9753	M	0.89601	3.045	0.42717	D	0.993664	D	0.76494	0.999	D	0.69307	0.963	D	0.98776	1.0730	9	0.87932	D	0	-21.326	15.0853	0.72148	0.0:0.9322:0.0:0.0678	.	223	P12259	FA5_HUMAN	I	223;223;86	ENSP00000356771:S223I;ENSP00000356770:S223I;ENSP00000439664:S86I	ENSP00000356770:S223I	S	-	2	0	F5	167795077	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.733000	0.74796	1.518000	0.48934	0.650000	0.86243	AGC		0.443	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		A	169528453	C	A	169528453	3	1	818	1	0	0	0	0	1	0	0	0	5350	797	28	4	6090	4	F5	1	169528453	Missense_Mutation	SNP	C	TCGA-Y8-A896-01A-11D-A35Z-10	14686120	169528453	79722168	8	49127											
C1orf125	126859	hgsc.bcm.edu	37	1	179494536	179494538	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	AGG	AGG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr1:179494536_179494538delAGG	ENST00000367618.3	+	22	2951_2953	c.2564_2566delAGG	c.(2563-2568)aaggag>aag	p.E856del		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	856	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						GAAGAAAGTAAGGAGGATAGGAA	0.335																																																0																																										SO:0001651	inframe_deletion	126859			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.2564_2566delAGG	chr1.hg19:g.179494539_179494541delAGG	ENSP00000356590:p.Glu856del		Q6AWB2|Q96LJ3|Q96M01	In_Frame_Del	DEL	ENST00000367618.3	hg19	CCDS30948.1																																																																																				0.335	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696		-	179494538	AGG	-	179494536	7	5	818	1	0	1	0	1	0	0	0	0	1995	72	3	0	2646	0	C1orf125	1	179494536	In_Frame_Del	DEL	AGG	TCGA-Y8-A896-01A-11D-A35Z-10	9966083	179494536	69756085	9	49128											
LAMC1	3915	hgsc.bcm.edu	37	1	183072766	183072766	+	Splice_Site	SNP	A	A	G			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr1:183072766A>G	ENST00000258341.4	+	2	979	c.722A>G	c.(721-723)cAg>cGg	p.Q241R		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	241	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			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						CCTGTGCTGCAGGTAAATTCT	0.517																																																0													42	43	43					1																	183072766		2203	4300	6503	SO:0001630	splice_region_variant	3915			J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"Laminins"	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.723+1A>G	chr1.hg19:g.183072766A>G			Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	hg19	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	A	26.8	4.776337	0.90195	.	.	ENSG00000135862	ENST00000258341	T	0.78003	-1.14	5.23	5.23	0.72850	Laminin, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.86581	0.5967	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.87578	0.998;0.964	D	0.87656	0.2531	10	0.59425	D	0.04	.	15.1384	0.72590	1.0:0.0:0.0:0.0	.	241;241	P11047;Q6NVY8	LAMC1_HUMAN;.	R	241	ENSP00000258341:Q241R	ENSP00000258341:Q241R	Q	+	2	0	LAMC1	181339389	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	9.020000	0.93667	1.978000	0.57642	0.533000	0.62120	CAG		0.517	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293	Missense_Mutation	G	183072766	A	G	183072766	5	3	818	1	0	0	0	0	0	0	1	0	8616	202	7	3	728	3	LAMC1	1	183072766	Splice_Site	SNP	A	TCGA-Y8-A896-01A-11D-A35Z-10	3578230	183072766	66177855	10	49129											
PGBD5	79605	hgsc.bcm.edu	37	1	230486768	230486768	+	Missense_Mutation	SNP	T	T	G			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr1:230486768T>G	ENST00000525115.1	-	3	646	c.623A>C	c.(622-624)aAg>aCg	p.K208T	PGBD5_ENST00000391860.1_Missense_Mutation_p.K162T|PGBD5_ENST00000321327.2_Missense_Mutation_p.K307T			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	208						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		CTTTTTCCTCTTTCGCAGCTC	0.557																																																0													124	112	116					1																	230486768		2203	4300	6503	SO:0001583	missense	79605			AK021475		1q42.13	2008-02-05			ENSG00000177614	ENSG00000177614			19405	protein-coding gene	gene with protein product							Standard	NM_001258311		Approved	DKFZp761A0620, FLJ11413	uc031psq.1	Q8N414	OTTHUMG00000037759	ENST00000525115.1:c.623A>C	chr1.hg19:g.230486768T>G	ENSP00000431404:p.Lys208Thr		A0PJF3|B9EK58|Q5SR37|Q6PJN2	Missense_Mutation	SNP	ENST00000525115.1	hg19		.	.	.	.	.	.	.	.	.	.	T	20.6	4.016450	0.75161	.	.	ENSG00000177614	ENST00000391860;ENST00000321327;ENST00000525115	T;T;T	0.18657	2.2;2.2;2.2	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.31040	0.0784	N	0.24115	0.695	0.58432	D	0.999994	D	0.69078	0.997	P	0.62560	0.904	T	0.06991	-1.0796	10	0.62326	D	0.03	-43.6433	15.9745	0.80049	0.0:0.0:0.0:1.0	.	208	Q8N414	PGBD5_HUMAN	T	162;307;208	ENSP00000375733:K162T;ENSP00000322530:K307T;ENSP00000431404:K208T	ENSP00000322530:K307T	K	-	2	0	PGBD5	228553391	1.000000	0.71417	0.998000	0.56505	0.935000	0.57460	6.086000	0.71352	2.168000	0.68352	0.533000	0.62120	AAG		0.557	PGBD5-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000382617.1	NM_024554		G	230486768	T	G	230486768	3	3	818	1	0	0	0	0	1	0	0	0	11786	1609	56	5	764	5	PGBD5	1	230486768	Missense_Mutation	SNP	T	TCGA-Y8-A896-01A-11D-A35Z-10	47414002	230486768	18763853	11	49130											
ASAP2	8853	hgsc.bcm.edu	37	2	9496455	9496455	+	Silent	SNP	C	C	T			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr2:9496455C>T	ENST00000281419.3	+	14	1648	c.1308C>T	c.(1306-1308)tgC>tgT	p.C436C	ASAP2_ENST00000315273.4_Silent_p.C436C	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	436	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						ATGACGTCTGCTGTGACTGTG	0.498																																																0													55	53	54					2																	9496455		2203	4300	6503	SO:0001819	synonymous_variant	8853			AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	2721	protein-coding gene	gene with protein product	"centaurin, beta 3"	603817	"development and differentiation enhancing factor 2"	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.1308C>T	chr2.hg19:g.9496455C>T			D6W4Y8	Silent	SNP	ENST00000281419.3	hg19	CCDS1661.1																																																																																				0.498	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000237522.1	NM_003887		T	9496455	C	T	9496455	2	4	818	1	0	0	0	0	0	0	0	1	1011	805	28	2		2	ASAP2	2	9496455	Silent	SNP	C	TCGA-Y8-A896-01A-11D-A35Z-10		9496455	233702918	12	49131											
ITGB1BP1	9270	hgsc.bcm.edu	37	2	9547719	9547719	+	Missense_Mutation	SNP	C	C	A			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr2:9547719C>A	ENST00000360635.3	-	7	1286	c.390G>T	c.(388-390)ttG>ttT	p.L130F	ITGB1BP1_ENST00000490426.1_5'UTR|ITGB1BP1_ENST00000355346.4_Missense_Mutation_p.L130F|ITGB1BP1_ENST00000238091.4_Intron|ITGB1BP1_ENST00000488451.1_Intron|ITGB1BP1_ENST00000359712.3_Missense_Mutation_p.L130F|ITGB1BP1_ENST00000456913.2_Missense_Mutation_p.L130F			O14713	ITBP1_HUMAN	integrin beta 1 binding protein 1	130	PID.				activation of protein kinase B activity (GO:0032148)|biomineral tissue development (GO:0031214)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|myoblast migration (GO:0051451)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|Notch signaling pathway (GO:0007219)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein transport (GO:0015031)|receptor clustering (GO:0043113)|regulation of blood vessel size (GO:0050880)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of integrin-mediated signaling pathway (GO:2001044)|transcription, DNA-templated (GO:0006351)|tube formation (GO:0035148)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	GDP-dissociation inhibitor activity (GO:0005092)|integrin binding (GO:0005178)|protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)			kidney(2)|large_intestine(2)|lung(2)|prostate(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.23)		CATGCCTGTGCAAAACATCCT	0.498																																																0													97	84	88					2																	9547719		2203	4300	6503	SO:0001583	missense	9270			AF012023	CCDS1662.1, CCDS1663.1	2p25.2	2008-02-05			ENSG00000119185	ENSG00000119185			23927	protein-coding gene	gene with protein product	"integrin cytoplasmic domain-associated protein 1", "integrin cytoplasmic domain-associated protein 1-beta", "integrin cytoplasmic domain-associated protein 1-alpha", "bodenin"	607153				11854171, 9281591	Standard	NM_004763		Approved	ICAP-1A, ICAP-1B, ICAP1, ICAP1A, ICAP1B, ICAP-1alpha	uc002qzj.3	O14713	OTTHUMG00000090414	ENST00000360635.3:c.390G>T	chr2.hg19:g.9547719C>A	ENSP00000353850:p.Leu130Phe		D6W4Y9|O14714|Q53RS0	Missense_Mutation	SNP	ENST00000360635.3	hg19	CCDS1662.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.946386	0.73672	.	.	ENSG00000119185	ENST00000360635;ENST00000355346;ENST00000359712;ENST00000456913;ENST00000492079	.	.	.	5.77	0.913	0.19354	Phosphotyrosine interaction domain (1);Pleckstrin homology-type (1);	0.062448	0.64402	D	0.000005	T	0.62332	0.2419	L	0.32530	0.975	0.58432	D	0.999997	D;P;D	0.76494	0.978;0.713;0.999	P;P;D	0.87578	0.864;0.662;0.998	T	0.60500	-0.7251	9	0.54805	T	0.06	-5.2216	11.4453	0.50120	0.0:0.6025:0.0:0.3975	.	86;130;130	B4DQY5;A8MPU2;O14713	.;.;ITBP1_HUMAN	F	130	.	ENSP00000347504:L130F	L	-	3	2	ITGB1BP1	9465170	0.992000	0.36948	0.414000	0.26521	0.936000	0.57629	0.352000	0.20113	0.167000	0.19631	0.655000	0.94253	TTG		0.498	ITGB1BP1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314623.2	NM_004763, NM_022334		A	9547719	C	A	9547719	3	1	818	1	0	0	0	0	1	0	0	0	7893	709	25	4	220	4	ITGB1BP1	2	9547719	Missense_Mutation	SNP	C	TCGA-Y8-A896-01A-11D-A35Z-10	51264	9547719	233651654	13	49132											
TTC32	130502	hgsc.bcm.edu	37	2	20101507	20101507	+	Silent	SNP	G	G	T	rs138752655		TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr2:20101507G>T	ENST00000333610.3	-	1	240	c.109C>A	c.(109-111)Cgg>Agg	p.R37R	RP11-79O8.1_ENST00000607190.1_lincRNA|TTC32_ENST00000402414.1_Silent_p.R37R	NM_001008237.1	NP_001008238.1	Q5I0X7	TTC32_HUMAN	tetratricopeptide repeat domain 32	37										kidney(2)|large_intestine(1)|lung(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAAGCGCACCGGCGAATGTAA	0.642																																																0													83	80	81					2																	20101507		2203	4300	6503	SO:0001819	synonymous_variant	130502			BC057850	CCDS33151.1	2p24.1	2013-01-10			ENSG00000183891	ENSG00000183891		"Tetratricopeptide (TTC) repeat domain containing"	32954	protein-coding gene	gene with protein product							Standard	NM_001008237		Approved		uc002rdg.3	Q5I0X7	OTTHUMG00000151776	ENST00000333610.3:c.109C>A	chr2.hg19:g.20101507G>T				Silent	SNP	ENST00000333610.3	hg19	CCDS33151.1																																																																																				0.642	TTC32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323868.1	NM_001008237		T	20101507	G	T	20101507	2	4	818	1	0	0	0	0	0	0	0	1	16706	1115	39	4		4	TTC32	2	20101507	Silent	SNP	G	TCGA-Y8-A896-01A-11D-A35Z-10	10553788	20101507	223097866	14	49133											
ALMS1	7840	hgsc.bcm.edu	37	2	73613036	73613036	+	Missense_Mutation	SNP	G	G	C	rs61156725|rs72319667|rs3074417	byFrequency	TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr2:73613036G>C	ENST00000264448.6	+	1	151	c.40G>C	c.(40-42)Gag>Cag	p.E14Q	ALMS1_ENST00000409009.1_Missense_Mutation_p.E14Q|ALMS1_ENST00000377715.1_Missense_Mutation_p.E14Q	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	14	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)		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						CGAGCTggaggaggaggagga	0.692																																																1	Deletion - In frame(1)	ovary(1)											3	4	4					2																	73613036		1509	3234	4743	SO:0001583	missense	7840			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.40G>C	chr2.hg19:g.73613036G>C	ENSP00000264448:p.Glu14Gln		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	hg19	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.731519	0.48939	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.26373	2.4;2.61;1.74	3.19	3.19	0.36642	.	0.259523	0.20097	U	0.099311	T	0.32436	0.0829	N	0.19112	0.55	0.22317	N	0.999202	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.03493	-1.1031	10	0.87932	D	0	.	10.1262	0.42652	0.0:0.0:1.0:0.0	.	14;14	B8ZZJ3;Q8TCU4	.;ALMS1_HUMAN	Q	14	ENSP00000386627:E14Q;ENSP00000264448:E14Q;ENSP00000366944:E14Q	ENSP00000264448:E14Q	E	+	1	0	ALMS1	73466544	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	2.034000	0.41145	2.070000	0.61991	0.484000	0.47621	GAG		0.692	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		C	73613036	G	C	73613036	3	2	818	1	0	0	0	0	1	0	0	0	535	1175	41	4	42	4	ALMS1	2	73613036	Missense_Mutation	SNP	G	TCGA-Y8-A896-01A-11D-A35Z-10	53511529	73613036	169586337	15	49134			1	137		2	2	30	G		9.742159e-05
ALMS1	7840	hgsc.bcm.edu	37	2	73613065	73613065	+	Silent	SNP	G	G	A			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr2:73613065G>A	ENST00000264448.6	+	1	180	c.69G>A	c.(67-69)gaG>gaA	p.E23E	ALMS1_ENST00000409009.1_Silent_p.E23E|ALMS1_ENST00000377715.1_Silent_p.E23E	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	23	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)				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						aggaggaggaggaggaagagg	0.687																																																0													6	9	8					2																	73613065		1849	3831	5680	SO:0001819	synonymous_variant	7840			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.69G>A	chr2.hg19:g.73613065G>A			Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Silent	SNP	ENST00000264448.6	hg19	CCDS42697.1																																																																																				0.687	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		A	73613065	G	A	73613065	2	1	818	1	0	0	0	0	0	0	0	1	535	991	35	2		2	ALMS1	2	73613065	Silent	SNP	G	TCGA-Y8-A896-01A-11D-A35Z-10	29	73613065	169586308	16	49135			1	137		2	2	30	G		9.742159e-05
LBX2	85474	hgsc.bcm.edu	37	2	74725195	74725196	+	Frame_Shift_Ins	INS	-	-	GCGA			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr2:74725195_74725196insGCGA	ENST00000377566.4	-	2	633_634	c.455_456insTCGC	c.(454-456)gccfs	p.-152fs	LBX2_ENST00000460508.3_Frame_Shift_Ins_p.-148fs|AC005041.17_ENST00000479098.1_RNA|LBX2_ENST00000341396.2_3'UTR|LBX2_ENST00000550249.1_5'UTR	NM_001282430.1	NP_001269359.1	Q6XYB7	LBX2_HUMAN	ladybird homeobox 2						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1)	4						CGCGTAGCGAGGCGACGTCGGC	0.688																																																0																																										SO:0001589	frameshift_variant	85474			AC005041	CCDS33228.1, CCDS62938.1	2p13.1	2014-05-06	2007-02-15		ENSG00000179528	ENSG00000179528		"Homeoboxes / ANTP class : NKL subclass"	15525	protein-coding gene	gene with protein product		607164	"ladybird homeobox homolog 2 (Drosophila)"			11386758	Standard	NM_001282430		Approved		uc002slw.3	Q6XYB7	OTTHUMG00000170595	ENST00000377566.4:c.452_455dupTCGC	chr2.hg19:g.74725196_74725199dupGCGA	ENSP00000366789:p.Ala152fs		Q7Z5Y8	Frame_Shift_Ins	INS	ENST00000377566.4	hg19																																																																																					0.688	LBX2-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000328490.1	NM_001009812		GCGA	74725196	-	GCGA	74725195	7	5	818	1	0	1	1	0	0	0	0	0	8656	987	35	0	144	0	LBX2	2	74725195	Frame_Shift_Ins	INS	-	TCGA-Y8-A896-01A-11D-A35Z-10	1112130	74725195	168474178	17	49136											
SEMA4F	10505	hgsc.bcm.edu	37	2	74902678	74902678	+	Missense_Mutation	SNP	C	C	T			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr2:74902678C>T	ENST00000357877.2	+	11	1548	c.1399C>T	c.(1399-1401)Cgg>Tgg	p.R467W	SEMA4F_ENST00000473350.1_3'UTR|SEMA4F_ENST00000339773.5_Missense_Mutation_p.R312W	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	467	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						CCGAGCAGTGCGGATCGGAGC	0.483																																																0													121	114	116					2																	74902678		2203	4300	6503	SO:0001583	missense	10505			AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622		"Semaphorins"	10734	protein-coding gene	gene with protein product	"m-Sema M"	603706		SEMAM		10051670	Standard	NM_004263		Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.1399C>T	chr2.hg19:g.74902678C>T	ENSP00000350547:p.Arg467Trp		Q542Y7|Q9NS35	Missense_Mutation	SNP	ENST00000357877.2	hg19	CCDS1955.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.315378	0.40996	.	.	ENSG00000135622	ENST00000357877;ENST00000339773	T;T	0.11169	2.8;2.8	4.5	3.62	0.41486	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.422729	0.21018	N	0.081569	T	0.17238	0.0414	L	0.42245	1.32	0.28984	N	0.888469	D;P	0.65815	0.995;0.932	P;P	0.54924	0.764;0.625	T	0.02042	-1.1224	10	0.66056	D	0.02	.	10.0793	0.42379	0.0:0.9018:0.0:0.0982	.	312;467	O95754-2;O95754	.;SEM4F_HUMAN	W	467;312	ENSP00000350547:R467W;ENSP00000342675:R312W	ENSP00000342675:R312W	R	+	1	2	SEMA4F	74756186	0.001000	0.12720	0.818000	0.32626	0.290000	0.27261	0.047000	0.14056	1.116000	0.41820	0.467000	0.42956	CGG		0.483	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252214.2	NM_004263		T	74902678	C	T	74902678	3	4	818	1	0	0	0	0	1	0	0	0	14041	759	27	1	1441	1	SEMA4F	2	74902678	Missense_Mutation	SNP	C	TCGA-Y8-A896-01A-11D-A35Z-10	177483	74902678	168296695	18	49137											
SLC20A1	6574	hgsc.bcm.edu	37	2	113405235	113405235	+	Missense_Mutation	SNP	T	T	G			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr2:113405235T>G	ENST00000272542.3	+	4	1020	c.481T>G	c.(481-483)Tct>Gct	p.S161A	AC079922.3_ENST00000457336.1_lincRNA	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	161					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						TCCAGTGATGTCTTGGTTCGT	0.363																																																0													210	211	211					2																	113405235		2203	4300	6503	SO:0001583	missense	6574				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.481T>G	chr2.hg19:g.113405235T>G	ENSP00000272542:p.Ser161Ala		Q08344|Q6DHX8|Q9UQ82	Missense_Mutation	SNP	ENST00000272542.3	hg19	CCDS2099.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	28.9|28.9	4.959704|4.959704	0.92791|0.92791	.|.	.|.	ENSG00000144136|ENSG00000144136	ENST00000423633|ENST00000272542	.|D	.|0.91521	.|-2.86	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.93458|0.93458	0.7913|0.7913	L|L	0.58925|0.58925	1.835|1.835	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.79784	.|0.993	D|D	0.92321|0.92321	0.5866|0.5866	5|10	.|0.32370	.|T	.|0.25	-11.006|-11.006	13.4819|13.4819	0.61340|0.61340	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|161	.|Q8WUM9	.|S20A1_HUMAN	W|A	8|161	.|ENSP00000272542:S161A	.|ENSP00000272542:S161A	C|S	+|+	3|1	2|0	SLC20A1|SLC20A1	113121706|113121706	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	8.036000|8.036000	0.88901|0.88901	2.067000|2.067000	0.61834|0.61834	0.533000|0.533000	0.62120|0.62120	TGT|TCT		0.363	SLC20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254086.2	NM_005415		G	113405235	T	G	113405235	3	3	818	1	0	0	0	0	1	0	0	0	14444	1667	58	5	491	5	SLC20A1	2	113405235	Missense_Mutation	SNP	T	TCGA-Y8-A896-01A-11D-A35Z-10	38502557	113405235	129794138	19	49138											
INHBB	3625	hgsc.bcm.edu	37	2	121107030	121107030	+	Silent	SNP	C	C	G	rs201383879		TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr2:121107030C>G	ENST00000295228.3	+	2	850	c.804C>G	c.(802-804)ggC>ggG	p.G268G		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	268					activin receptor signaling pathway (GO:0032924)|cell differentiation (GO:0030154)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|cellular response to starvation (GO:0009267)|defense response (GO:0006952)|fat cell differentiation (GO:0045444)|growth (GO:0040007)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of hepatocyte growth factor biosynthetic process (GO:0048178)|negative regulation of insulin secretion (GO:0046676)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|response to mechanical stimulus (GO:0009612)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	cytokine activity (GO:0005125)|hormone activity (GO:0005179)|host cell surface receptor binding (GO:0046789)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				TGGACCCAGGCGAAGAGTCGC	0.672																																																0													59	63	62					2																	121107030		2203	4299	6502	SO:0001819	synonymous_variant	3625				CCDS2132.1	2q14.2	2014-01-30	2007-07-30		ENSG00000163083	ENSG00000163083		"Endogenous ligands"	6067	protein-coding gene	gene with protein product		147390	"inhibin, beta B (activin AB beta polypeptide)"			3345731	Standard	NM_002193		Approved		uc002tmn.2	P09529	OTTHUMG00000131437	ENST00000295228.3:c.804C>G	chr2.hg19:g.121107030C>G			Q53T31|Q8N1D3	Silent	SNP	ENST00000295228.3	hg19	CCDS2132.1																																																																																				0.672	INHBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254234.1			G	121107030	C	G	121107030	2	3	818	1	0	0	0	0	0	0	0	1	7744	755	27	4		4	INHBB	2	121107030	Silent	SNP	C	TCGA-Y8-A896-01A-11D-A35Z-10	7701795	121107030	122092343	20	49139											
ANKAR	150709	hgsc.bcm.edu	37	2	190557049	190557049	+	Missense_Mutation	SNP	T	T	C			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr2:190557049T>C	ENST00000520309.1	+	4	1196	c.1108T>C	c.(1108-1110)Ttt>Ctt	p.F370L	ANKAR_ENST00000313581.4_Missense_Mutation_p.F370L|ANKAR_ENST00000438402.2_Missense_Mutation_p.F370L|ANKAR_ENST00000431575.2_Missense_Mutation_p.F299L|ANKAR_ENST00000461516.1_Intron|ANKAR_ENST00000281412.6_Missense_Mutation_p.F134L	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	370						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)			ATGCCAGAATTTTCACTACAA	0.318																																																0													66	70	69					2																	190557049		2203	4299	6502	SO:0001583	missense	150709			AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"Ankyrin repeat domain containing", "Armadillo repeat containing"	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.1108T>C	chr2.hg19:g.190557049T>C	ENSP00000427882:p.Phe370Leu		Q3ZCS6|Q4G0M2|Q6ZU02	Missense_Mutation	SNP	ENST00000520309.1	hg19	CCDS33351.2	.	.	.	.	.	.	.	.	.	.	T	30	5.054111	0.93793	.	.	ENSG00000151687	ENST00000520309;ENST00000313581;ENST00000438402;ENST00000431575;ENST00000281412	T;T;T;T;T	0.61040	0.19;0.19;0.14;0.19;0.14	5.65	5.65	0.86999	.	0.266234	0.27016	N	0.021353	T	0.73814	0.3635	M	0.65498	2.005	0.46823	D	0.999216	D	0.69078	0.997	D	0.75020	0.985	T	0.76578	-0.2908	10	0.72032	D	0.01	-2.0555	14.8681	0.70434	0.0:0.0:0.0:1.0	.	370	Q7Z5J8	ANKAR_HUMAN	L	370;370;370;299;134	ENSP00000427882:F370L;ENSP00000313513:F370L;ENSP00000397243:F370L;ENSP00000393043:F299L;ENSP00000281412:F134L	ENSP00000281412:F134L	F	+	1	0	ANKAR	190265294	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	5.531000	0.67148	2.150000	0.67090	0.455000	0.32223	TTT		0.318	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708		C	190557049	T	C	190557049	3	2	818	1	0	0	0	0	1	0	0	0	623	1841	64	3	1118	3	ANKAR	2	190557049	Missense_Mutation	SNP	T	TCGA-Y8-A896-01A-11D-A35Z-10	69450019	190557049	52642324	21	49140											
FASTKD2	22868	hgsc.bcm.edu	37	2	207631966	207631966	+	Missense_Mutation	SNP	C	C	A			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr2:207631966C>A	ENST00000236980.6	+	2	897	c.549C>A	c.(547-549)aaC>aaA	p.N183K	FASTKD2_ENST00000402774.3_Missense_Mutation_p.N183K|MDH1B_ENST00000392214.2_5'Flank|MDH1B_ENST00000374412.3_5'Flank|FASTKD2_ENST00000403094.3_Missense_Mutation_p.N183K|MDH1B_ENST00000449792.1_5'Flank|MDH1B_ENST00000454776.2_5'Flank	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	183					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		CTAGTAGCAACTATTTCACAG	0.418																																																0													121	119	120					2																	207631966		2203	4300	6503	SO:0001583	missense	22868			BC001544	CCDS2371.1	2q33.3	2008-02-05	2006-07-07	2006-07-07	ENSG00000118246	ENSG00000118246			29160	protein-coding gene	gene with protein product		612322	"KIAA0971"	KIAA0971			Standard	NM_014929		Approved		uc002vbx.3	Q9NYY8	OTTHUMG00000132917	ENST00000236980.6:c.549C>A	chr2.hg19:g.207631966C>A	ENSP00000236980:p.Asn183Lys		Q9NVX6|Q9Y2H7	Missense_Mutation	SNP	ENST00000236980.6	hg19	CCDS2371.1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.374586	0.42105	.	.	ENSG00000118246	ENST00000236980;ENST00000402774;ENST00000403094	T;T;T	0.15603	2.41;2.41;2.41	5.31	1.09	0.20402	.	0.195508	0.41823	N	0.000814	T	0.16128	0.0388	L	0.52573	1.65	0.44234	D	0.997071	B;B	0.25667	0.084;0.131	B;B	0.28916	0.037;0.096	T	0.06180	-1.0841	10	0.42905	T	0.14	-19.5825	10.2914	0.43599	0.2493:0.5094:0.2413:0.0	.	183;183	Q9NYY8-2;Q9NYY8	.;FAKD2_HUMAN	K	183	ENSP00000236980:N183K;ENSP00000385990:N183K;ENSP00000384929:N183K	ENSP00000236980:N183K	N	+	3	2	FASTKD2	207340211	1.000000	0.71417	0.999000	0.59377	0.957000	0.61999	1.884000	0.39668	0.194000	0.20326	0.561000	0.74099	AAC		0.418	FASTKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256428.2	NM_014929		A	207631966	C	A	207631966	3	1	818	1	0	0	0	0	1	0	0	0	5688	564	20	4	551	4	FASTKD2	2	207631966	Missense_Mutation	SNP	C	TCGA-Y8-A896-01A-11D-A35Z-10	17074917	207631966	35567407	22	49141											
ATG9A	79065	hgsc.bcm.edu	37	2	220090237	220090237	+	Silent	SNP	G	G	A			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr2:220090237G>A	ENST00000409618.1	-	6	709	c.270C>T	c.(268-270)gaC>gaT	p.D90D	ATG9A_ENST00000361242.4_Silent_p.D90D|ATG9A_ENST00000488833.1_5'Flank|ATG9A_ENST00000409422.1_Silent_p.D29D|ATG9A_ENST00000396761.2_Silent_p.D90D|AC068946.1_ENST00000408417.1_RNA			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	90					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)		CAAATAGGATGTCATAGTCCA	0.532																																																0													109	114	113					2																	220090237		2067	4222	6289	SO:0001819	synonymous_variant	79065			AK021732	CCDS42820.1	2q35	2014-02-12	2012-06-06	2005-09-11	ENSG00000198925	ENSG00000198925			22408	protein-coding gene	gene with protein product		612204	"APG9 autophagy 9-like 1 (S. cerevisiae)", "ATG9 autophagy related 9 homolog A (S. cerevisiae)"	APG9L1			Standard	NM_024085		Approved	FLJ22169	uc002vkf.1	Q7Z3C6	OTTHUMG00000154557	ENST00000409618.1:c.270C>T	chr2.hg19:g.220090237G>A			Q3ZAQ6|Q6P0N7|Q7Z317|Q7Z320|Q8NDK6|Q8WU65|Q9BVL5|Q9H6L1|Q9HAG7	Silent	SNP	ENST00000409618.1	hg19	CCDS42820.1																																																																																				0.532	ATG9A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335930.1	NM_024085		A	220090237	G	A	220090237	2	1	818	1	0	0	0	0	0	0	0	1	1102	1368	48	2		2	ATG9A	2	220090237	Silent	SNP	G	TCGA-Y8-A896-01A-11D-A35Z-10	12458271	220090237	23109136	23	49142											
CHRND	1144	hgsc.bcm.edu	37	2	233394851	233394851	+	Splice_Site	SNP	T	T	C			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr2:233394851T>C	ENST00000258385.3	+	7	852		c.e7+2		CHRND_ENST00000536614.1_Splice_Site|CHRND_ENST00000543200.1_Splice_Site|CHRND_ENST00000457943.2_Intron	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)						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)	CGGCTGACAGTGAGCCTCCAG	0.647																																																0			GRCh37	CD012239	CHRND	D							125	106	112					2																	233394851		2203	4300	6503	SO:0001630	splice_region_variant	1144			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.820+2T>C	chr2.hg19:g.233394851T>C			A8K661|B4DT92|Q52LH4	Splice_Site	SNP	ENST00000258385.3	hg19	CCDS2494.1	.	.	.	.	.	.	.	.	.	.	T	18.45	3.625679	0.66901	.	.	ENSG00000135902	ENST00000543200;ENST00000258385	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3496	0.74373	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CHRND	233103095	1.000000	0.71417	1.000000	0.80357	0.700000	0.40528	7.896000	0.87350	2.105000	0.64084	0.533000	0.62120	.		0.647	CHRND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257038.2		Intron	C	233394851	T	C	233394851	5	2	818	1	0	0	0	0	0	0	1	0	3396	1710	59	3	848	3	CHRND	2	233394851	Splice_Site	SNP	T	TCGA-Y8-A896-01A-11D-A35Z-10	13304614	233394851	9804522	24	49143											
TOP2B	7155	hgsc.bcm.edu	37	3	25675377	25675377	+	Silent	SNP	T	T	C			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr3:25675377T>C	ENST00000264331.4	-	8	980	c.981A>G	c.(979-981)aaA>aaG	p.K327K	TOP2B_ENST00000435706.2_Silent_p.K322K	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	327					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)	GCTGGAATCCTTTTTCACTCA	0.348																																																0													162	156	158					3																	25675377		1848	4087	5935	SO:0001819	synonymous_variant	7155			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.981A>G	chr3.hg19:g.25675377T>C			Q13600|Q9UMG8|Q9UQP8	Silent	SNP	ENST00000264331.4	hg19																																																																																					0.348	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				C	25675377	T	C	25675377	2	2	818	1	0	0	0	0	0	0	0	1	16371	1606	56	3		3	TOP2B	3	25675377	Silent	SNP	T	TCGA-Y8-A896-01A-11D-A35Z-10		25675377	172347053	25	49144											
FYCO1	79443	hgsc.bcm.edu	37	3	45972569	45972569	+	Missense_Mutation	SNP	C	C	G			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr3:45972569C>G	ENST00000296137.2	-	16	4450	c.4245G>C	c.(4243-4245)caG>caC	p.Q1415H	FYCO1_ENST00000438446.1_Missense_Mutation_p.Q86H|FYCO1_ENST00000535325.1_Missense_Mutation_p.Q1435H	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	1415	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				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)		TTACCTTACACTGATCCAGCG	0.592																																																0													73	59	64					3																	45972569		2203	4300	6503	SO:0001583	missense	79443			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.4245G>C	chr3.hg19:g.45972569C>G	ENSP00000296137:p.Gln1415His		B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Missense_Mutation	SNP	ENST00000296137.2	hg19	CCDS2734.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.61|13.61	2.289406|2.289406	0.40494|0.40494	.|.	.|.	ENSG00000163820|ENSG00000163820	ENST00000296137;ENST00000438446;ENST00000535325|ENST00000433878	T;T;T|.	0.43688|.	0.94;0.94;0.94|.	5.1|5.1	3.28|3.28	0.37604|0.37604	GOLD (2);|.	0.130764|.	0.52532|.	D|.	0.000067|.	T|T	0.50616|0.50616	0.1626|0.1626	L|L	0.37630|0.37630	1.12|1.12	0.43512|0.43512	D|D	0.995777|0.995777	P;B|.	0.35033|.	0.481;0.005|.	B;B|.	0.41135|.	0.348;0.017|.	T|T	0.40327|0.40327	-0.9569|-0.9569	10|5	0.44086|.	T|.	0.13|.	-24.5306|-24.5306	8.1734|8.1734	0.31268|0.31268	0.0:0.7558:0.0:0.2442|0.0:0.7558:0.0:0.2442	.|.	1435;1415|.	B7ZKT7;Q9BQS8|.	.;FYCO1_HUMAN|.	H|T	1415;86;1435|204	ENSP00000296137:Q1415H;ENSP00000398517:Q86H;ENSP00000441178:Q1435H|.	ENSP00000296137:Q1415H|.	Q|S	-|-	3|2	2|0	FYCO1|FYCO1	45947573|45947573	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.702000|0.702000	0.40608|0.40608	1.765000|1.765000	0.38481|0.38481	1.142000|1.142000	0.42291|0.42291	0.655000|0.655000	0.94253|0.94253	CAG|AGT		0.592	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	NM_024513		G	45972569	C	G	45972569	3	3	818	1	0	0	0	0	1	0	0	0	6127	564	20	4	203	4	FYCO1	3	45972569	Missense_Mutation	SNP	C	TCGA-Y8-A896-01A-11D-A35Z-10	20297192	45972569	152049861	26	49145											
SMARCC1	6599	hgsc.bcm.edu	37	3	47680268	47680268	+	Missense_Mutation	SNP	C	C	T			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr3:47680268C>T	ENST00000254480.5	-	22	2442	c.2323G>A	c.(2323-2325)Gga>Aga	p.G775R	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	775	Glu-rich.				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)		TCTTCAGCTCCTTCTACAAGT	0.393																																																0													123	122	122					3																	47680268		2203	4300	6503	SO:0001583	missense	6599			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.2323G>A	chr3.hg19:g.47680268C>T	ENSP00000254480:p.Gly775Arg		Q17RS0|Q6P172|Q8IWH2	Missense_Mutation	SNP	ENST00000254480.5	hg19	CCDS2758.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.556937	0.65425	.	.	ENSG00000173473	ENST00000254480	T	0.37915	1.17	5.16	5.16	0.70880	.	0.346611	0.29987	N	0.010684	T	0.32010	0.0815	L	0.40543	1.245	0.53005	D	0.999965	B	0.30763	0.294	B	0.27262	0.078	T	0.13926	-1.0491	10	0.59425	D	0.04	-10.0611	15.7325	0.77817	0.0:1.0:0.0:0.0	.	775	Q92922	SMRC1_HUMAN	R	775	ENSP00000254480:G775R	ENSP00000254480:G775R	G	-	1	0	SMARCC1	47655272	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	4.646000	0.61411	2.564000	0.86499	0.655000	0.94253	GGA		0.393	SMARCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257491.1			T	47680268	C	T	47680268	3	4	818	1	0	0	0	0	1	0	0	0	14781	690	24	2	1022	2	SMARCC1	3	47680268	Missense_Mutation	SNP	C	TCGA-Y8-A896-01A-11D-A35Z-10	1707699	47680268	150342162	27	49146											
CDC25A	993	hgsc.bcm.edu	37	3	48200920	48200920	+	Missense_Mutation	SNP	G	G	A			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr3:48200920G>A	ENST00000302506.3	-	14	1756	c.1348C>T	c.(1348-1350)Cgc>Tgc	p.R450C	CDC25A_ENST00000351231.3_Missense_Mutation_p.R410C	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN	cell division cycle 25A	450	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cell proliferation (GO:0008283)|cellular response to UV (GO:0034644)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to radiation (GO:0009314)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		TTACCCAGGCGATCTCTCTCT	0.512																																																0													106	90	96					3																	48200920		2203	4300	6503	SO:0001583	missense	993			M81933	CCDS2760.1, CCDS2761.1	3p21	2013-01-17	2013-01-17		ENSG00000164045	ENSG00000164045		"Protein tyrosine phosphatases / Class III Cys-based PTPs"	1725	protein-coding gene	gene with protein product		116947	"cell division cycle 25A", "cell division cycle 25 homolog A (S. cerevisiae)", "cell division cycle 25 homolog A (S. pombe)"			1836978	Standard	NM_001789		Approved		uc003csh.1	P30304	OTTHUMG00000133535	ENST00000302506.3:c.1348C>T	chr3.hg19:g.48200920G>A	ENSP00000303706:p.Arg450Cys		Q8IZH5|Q96IL3|Q9H2F2	Missense_Mutation	SNP	ENST00000302506.3	hg19	CCDS2760.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.344385	0.82022	.	.	ENSG00000164045	ENST00000302506;ENST00000351231	T;T	0.25749	1.78;1.78	5.76	4.86	0.63082	Rhodanese-like (5);	0.000000	0.85682	D	0.000000	T	0.65502	0.2697	H	0.97291	3.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.78298	-0.2258	10	0.87932	D	0	.	13.531	0.61621	0.0:0.0:0.8379:0.1621	.	410;450	P30304-2;P30304	.;MPIP1_HUMAN	C	450;410	ENSP00000303706:R450C;ENSP00000343166:R410C	ENSP00000303706:R450C	R	-	1	0	CDC25A	48175924	1.000000	0.71417	0.930000	0.37139	0.702000	0.40608	3.997000	0.57016	1.369000	0.46134	0.655000	0.94253	CGC		0.512	CDC25A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257512.2	NM_001789		A	48200920	G	A	48200920	3	1	818	1	0	0	0	0	1	0	0	0	3064	1058	37	1	234	1	CDC25A	3	48200920	Missense_Mutation	SNP	G	TCGA-Y8-A896-01A-11D-A35Z-10	520652	48200920	149821510	28	49147											
PLXNB1	5364	hgsc.bcm.edu	37	3	48465669	48465669	+	Missense_Mutation	SNP	C	C	A	rs368626600		TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr3:48465669C>A	ENST00000358536.4	-	3	621	c.352G>T	c.(352-354)Gtc>Ttc	p.V118F	PLXNB1_ENST00000358459.4_Missense_Mutation_p.V118F|PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000456774.1_Missense_Mutation_p.V118F|PLXNB1_ENST00000296440.6_Missense_Mutation_p.V118F	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	118	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				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)		TGTTCACAGACCCCCTGGTGC	0.667																																																0													17	20	19					3																	48465669		2199	4294	6493	SO:0001583	missense	5364			X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"Plexins"	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.352G>T	chr3.hg19:g.48465669C>A	ENSP00000351338:p.Val118Phe		A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	ENST00000358536.4	hg19	CCDS2765.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.577137	0.45902	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000456774	T;T;T;T	0.04862	3.54;3.54;3.54;3.54	4.14	2.3	0.28687	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.184288	0.36338	N	0.002654	T	0.08670	0.0215	L	0.29908	0.895	0.80722	D	1	D;P	0.56521	0.976;0.953	P;P	0.56514	0.563;0.8	T	0.32534	-0.9903	10	0.38643	T	0.18	.	6.0703	0.19885	0.0:0.5327:0.0:0.4673	.	118;118	O43157;O43157-2	PLXB1_HUMAN;.	F	118	ENSP00000296440:V118F;ENSP00000351242:V118F;ENSP00000351338:V118F;ENSP00000414199:V118F	ENSP00000296440:V118F	V	-	1	0	PLXNB1	48440673	0.980000	0.34600	0.607000	0.28956	0.655000	0.38815	2.140000	0.42159	0.216000	0.20781	-0.136000	0.14681	GTC		0.667	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673		A	48465669	C	A	48465669	3	1	818	1	0	0	0	0	1	0	0	0	12125	507	18	4	6199	4	PLXNB1	3	48465669	Missense_Mutation	SNP	C	TCGA-Y8-A896-01A-11D-A35Z-10	264749	48465669	149556761	29	49148											
COL7A1	1294	hgsc.bcm.edu	37	3	48619024	48619024	+	Silent	SNP	C	C	T			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr3:48619024C>T	ENST00000328333.8	-	49	4871	c.4764G>A	c.(4762-4764)aaG>aaA	p.K1588K	MIR711_ENST00000390201.1_RNA|COL7A1_ENST00000454817.1_Silent_p.K1588K	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1588	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)		CAGGGTCTCCCTTGGGGCCAG	0.587																																																0													103	107	106					3																	48619024		2203	4300	6503	SO:0001819	synonymous_variant	1294			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"Collagens", "Fibronectin type III domain containing"	2214	protein-coding gene	gene with protein product	"collagen VII, alpha-1 polypeptide", "LC collagen"	120120	"epidermolysis bullosa, dystrophic, dominant and recessive"	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.4764G>A	chr3.hg19:g.48619024C>T			Q14054|Q16507	Silent	SNP	ENST00000328333.8	hg19	CCDS2773.1																																																																																				0.587	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		T	48619024	C	T	48619024	2	4	818	1	0	0	0	0	0	0	0	1	3706	680	24	2		2	COL7A1	3	48619024	Silent	SNP	C	TCGA-Y8-A896-01A-11D-A35Z-10	153355	48619024	149403406	30	49149											
IMPDH2	54870	hgsc.bcm.edu	37	3	49064477	49064477	+	IGR	SNP	T	T	C			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr3:49064477T>C	ENST00000395443.2	-	0	3549				RP13-131K19.6_ENST00000607245.1_RNA|IMPDH2_ENST00000326739.4_Missense_Mutation_p.M179V	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)		CTCTTTGTCATTATCTACGTG	0.507																																																0													159	146	150					3																	49064477		2203	4300	6503	SO:0001628	intergenic_variant	3615				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		chr3.hg19:g.49064477T>C			Q4G0F7|Q7L621|Q8TEA5	Missense_Mutation	SNP	ENST00000395443.2	hg19	CCDS2787.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.1|20.1	3.937086|3.937086	0.73557|0.73557	.|.	.|.	ENSG00000178035|ENSG00000178035	ENST00000537036;ENST00000326739;ENST00000442157|ENST00000429182	D;D|.	0.96136|.	-3.92;-3.92|.	6.08|6.08	6.08|6.08	0.98989|0.98989	Aldolase-type TIM barrel (1);Cystathionine beta-synthase, core (2);IMP dehydrogenase/GMP reductase (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.88987|0.88987	0.6587|0.6587	H|H	0.97918|0.97918	4.105|4.105	0.80722|0.80722	D|D	1|1	D|.	0.71674|.	0.998|.	D|.	0.91635|.	0.999|.	D|D	0.92898|0.92898	0.6337|0.6337	10|5	0.87932|.	D|.	0|.	-37.003|-37.003	16.6438|16.6438	0.85155|0.85155	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	179|.	P12268|.	IMDH2_HUMAN|.	V|S	179;179;154|110	ENSP00000321584:M179V;ENSP00000403502:M154V|.	ENSP00000321584:M179V|.	M|N	-|-	1|2	0|0	IMPDH2|IMPDH2	49039481|49039481	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.919000|0.919000	0.55068|0.55068	5.943000|5.943000	0.70211|0.70211	2.333000|2.333000	0.79357|0.79357	0.533000|0.533000	0.62120|0.62120	ATG|AAT		0.507	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730		C	49064477	T	C	49064477	1	2	818	0	1	0	0	0	0	0	0	0	7729	1493	52	3		3	IMPDH2	3	49064477	IGR	SNP	T	TCGA-Y8-A896-01A-11D-A35Z-10	445453	49064477	148957953	31	49150											
RNF123	63891	hgsc.bcm.edu	37	3	49734840	49734840	+	Missense_Mutation	SNP	C	C	A			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr3:49734840C>A	ENST00000327697.6	+	5	436	c.292C>A	c.(292-294)Cac>Aac	p.H98N	RNF123_ENST00000432042.1_5'UTR	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	98	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GGTCCTGGACCACACAGGCGG	0.602																																																0													53	53	53					3																	49734840		2203	4300	6503	SO:0001583	missense	63891			AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"RING-type (C3HC4) zinc fingers"	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.292C>A	chr3.hg19:g.49734840C>A	ENSP00000328287:p.His98Asn		A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	ENST00000327697.6	hg19	CCDS33758.1	.	.	.	.	.	.	.	.	.	.	C	33	5.209517	0.95069	.	.	ENSG00000164068	ENST00000327697;ENST00000389066	T	0.72942	-0.7	6.17	6.17	0.99709	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.144593	0.47852	D	0.000201	T	0.80019	0.4547	L	0.40543	1.245	0.80722	D	1	D	0.63880	0.993	D	0.70227	0.968	T	0.78404	-0.2217	10	0.52906	T	0.07	-39.2141	19.8676	0.96824	0.0:1.0:0.0:0.0	.	98	Q5XPI4	RN123_HUMAN	N	98	ENSP00000328287:H98N	ENSP00000328287:H98N	H	+	1	0	RNF123	49709844	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.621000	0.67743	2.941000	0.99782	0.655000	0.94253	CAC		0.602	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		A	49734840	C	A	49734840	3	1	818	1	0	0	0	0	1	0	0	0	13439	594	21	4	306	4	RNF123	3	49734840	Missense_Mutation	SNP	C	TCGA-Y8-A896-01A-11D-A35Z-10	670363	49734840	148287590	32	49151											
UBA5	79876	hgsc.bcm.edu	37	3	132395353	132395353	+	Frame_Shift_Del	DEL	A	A	-			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr3:132395353delA	ENST00000356232.4	+	12	2270	c.1198delA	c.(1198-1200)aaafs	p.K400fs	UBA5_ENST00000473651.1_3'UTR|UBA5_ENST00000493720.2_Intron|UBA5_ENST00000494238.2_Frame_Shift_Del_p.K344fs|UBA5_ENST00000264991.4_Frame_Shift_Del_p.K344fs	NM_024818.3	NP_079094.1	Q9GZZ9	UBA5_HUMAN	ubiquitin-like modifier activating enzyme 5	400					protein ufmylation (GO:0071569)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|UFM1 activating enzyme activity (GO:0071566)			breast(2)|endometrium(4)|kidney(4)|large_intestine(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						CCTCATGGCCAAAATGAAGAA	0.323																																																0													92	92	92					3																	132395353		2202	4300	6502	SO:0001589	frameshift_variant	79876			AY253672	CCDS3076.1, CCDS3077.1	3q22	2007-11-30	2007-11-30	2007-11-30	ENSG00000081307	ENSG00000081307		"Ubiquitin-like modifier activating enzymes"	23230	protein-coding gene	gene with protein product	"UBA5, ubiquitin-activating enzyme E1 homolog (yeast)"	610552	"ubiquitin-activating enzyme E1-domain containing 1"	UBE1DC1		11230166, 15071506	Standard	NM_198329		Approved	FLJ23251	uc003epa.4	Q9GZZ9	OTTHUMG00000159759	ENST00000356232.4:c.1198delA	chr3.hg19:g.132395353delA	ENSP00000348565:p.Lys400fs		A6NJL3|D3DNC8|Q96ST1	Frame_Shift_Del	DEL	ENST00000356232.4	hg19	CCDS3076.1																																																																																				0.323	UBA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357187.2	NM_024818		-	132395353	A	-	132395353	7	5	818	1	0	1	0	1	0	0	0	0	16835	131	5	0	1244	0	UBA5	3	132395353	Frame_Shift_Del	DEL	A	TCGA-Y8-A896-01A-11D-A35Z-10	82660513	132395353	65627077	33	49152											
FXR1	8087	hgsc.bcm.edu	37	3	180688019	180688019	+	Silent	SNP	T	T	C			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr3:180688019T>C	ENST00000357559.4	+	15	1860	c.1476T>C	c.(1474-1476)gaT>gaC	p.D492D	FXR1_ENST00000305586.7_Silent_p.D407D|FXR1_ENST00000491062.1_Silent_p.D443D|FXR1_ENST00000445140.2_Silent_p.D492D|FXR1_ENST00000480918.1_Silent_p.D479D|FXR1_ENST00000468861.1_Silent_p.D407D	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	492					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of translation (GO:0017148)	costamere (GO:0043034)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysome (GO:0005844)	G-quadruplex RNA binding (GO:0002151)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			CAGACACTGATGCCAGCGAAT	0.433																																																0													135	117	123					3																	180688019		2203	4300	6503	SO:0001819	synonymous_variant	8087			M67468	CCDS3238.1, CCDS33894.1, CCDS46965.1	3q28	2014-01-28			ENSG00000114416	ENSG00000114416			4023	protein-coding gene	gene with protein product		600819				7781595, 9642279	Standard	NM_005087		Approved		uc003fkq.3	P51114	OTTHUMG00000158138	ENST00000357559.4:c.1476T>C	chr3.hg19:g.180688019T>C			A8K9B8|Q7Z450|Q8N6R8	Silent	SNP	ENST00000357559.4	hg19	CCDS3238.1	.	.	.	.	.	.	.	.	.	.	T	10.53	1.376178	0.24857	.	.	ENSG00000114416	ENST00000482125	.	.	.	5.91	0.686	0.18015	.	.	.	.	.	T	0.58293	0.2112	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52283	-0.8596	4	.	.	.	-18.2892	10.2884	0.43581	0.0:0.3977:0.0:0.6023	.	.	.	.	T	93	.	.	M	+	2	0	FXR1	182170713	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.600000	0.24104	0.091000	0.17302	0.528000	0.53228	ATG		0.433	FXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350265.5			C	180688019	T	C	180688019	2	2	818	1	0	0	0	0	0	0	0	1	6117	1461	51	3		3	FXR1	3	180688019	Silent	SNP	T	TCGA-Y8-A896-01A-11D-A35Z-10	48292666	180688019	17334411	34	49153											
ABCC5	10057	hgsc.bcm.edu	37	3	183700580	183700580	+	Frame_Shift_Del	DEL	T	T	-			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr3:183700580delT	ENST00000334444.6	-	6	1047	c.807delA	c.(805-807)aaafs	p.K269fs	ABCC5_ENST00000492216.1_5'UTR|ABCC5_ENST00000265586.6_Frame_Shift_Del_p.K269fs	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	269	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	GGGATTTCTCTTTAATGTTCT	0.488																																																0													68	72	71					3																	183700580		1908	4132	6040	SO:0001589	frameshift_variant	10057			AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"ATP binding cassette transporters / subfamily C"	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.807delA	chr3.hg19:g.183700580delT	ENSP00000333926:p.Lys269fs		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Frame_Shift_Del	DEL	ENST00000334444.6	hg19	CCDS43176.1																																																																																				0.488	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		-	183700580	T	-	183700580	7	5	818	1	0	1	0	1	0	0	0	0	56	1606	56	0	3606	0	ABCC5	3	183700580	Frame_Shift_Del	DEL	T	TCGA-Y8-A896-01A-11D-A35Z-10	3012561	183700580	14321850	35	49154											
IGF2BP2	10644	hgsc.bcm.edu	37	3	185364916	185364916	+	Missense_Mutation	SNP	A	A	G			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr3:185364916A>G	ENST00000382199.2	-	15	1699	c.1604T>C	c.(1603-1605)cTg>cCg	p.L535P	IGF2BP2_ENST00000457616.2_Missense_Mutation_p.L541P|IGF2BP2_ENST00000494906.1_5'Flank|IGF2BP2_ENST00000421047.2_Missense_Mutation_p.L478P|IGF2BP2_ENST00000346192.3_Missense_Mutation_p.L492P	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	535	KH 4. {ECO:0000255|PROSITE- ProRule:PRU00117}.				anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			TAAGTTCTGCAGTTCGTTCAC	0.542																																																0													174	149	157					3																	185364916		2203	4300	6503	SO:0001583	missense	10644			BC021290	CCDS3273.2, CCDS33903.1	3q27.2	2013-02-12			ENSG00000073792	ENSG00000073792		"RNA binding motif (RRM) containing"	28867	protein-coding gene	gene with protein product	"IGF II mRNA binding protein 2"	608289				10190901, 9891060	Standard	NM_001007225		Approved	IMP-2	uc003fpo.3	Q9Y6M1	OTTHUMG00000074025	ENST00000382199.2:c.1604T>C	chr3.hg19:g.185364916A>G	ENSP00000371634:p.Leu535Pro		A0A4Z0|B3FTN2|B3FTN3|B3FTN4	Missense_Mutation	SNP	ENST00000382199.2	hg19	CCDS3273.2	.	.	.	.	.	.	.	.	.	.	A	22.9	4.352874	0.82132	.	.	ENSG00000073792	ENST00000382199;ENST00000421047;ENST00000457616;ENST00000346192	T;T;T;T	0.38240	1.15;1.15;1.15;1.15	5.02	5.02	0.67125	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.075107	0.56097	D	0.000032	T	0.66446	0.2790	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;1.0;1.0;1.0;1.0;1.0	T	0.74705	-0.3575	10	0.87932	D	0	-8.7264	14.0216	0.64558	1.0:0.0:0.0:0.0	.	429;472;478;541;492;535	Q9Y6M1-5;Q9Y6M1-3;Q9Y6M1-4;F8W930;Q9Y6M1-1;Q9Y6M1	.;.;.;.;.;IF2B2_HUMAN	P	535;478;541;492	ENSP00000371634:L535P;ENSP00000413787:L478P;ENSP00000410242:L541P;ENSP00000320204:L492P	ENSP00000320204:L492P	L	-	2	0	IGF2BP2	186847610	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	9.339000	0.96797	2.022000	0.59522	0.454000	0.30748	CTG		0.542	IGF2BP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157087.2	NM_006548		G	185364916	A	G	185364916	3	3	818	1	0	0	0	0	1	0	0	0	7576	188	7	3	203	3	IGF2BP2	3	185364916	Missense_Mutation	SNP	A	TCGA-Y8-A896-01A-11D-A35Z-10	1664336	185364916	12657514	36	49155											
CDH18	1016	hgsc.bcm.edu	37	5	19473544	19473544	+	Missense_Mutation	SNP	C	C	T	rs376117433		TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr5:19473544C>T	ENST00000507958.1	-	15	3154	c.2164G>A	c.(2164-2166)Gaa>Aaa	p.E722K	CDH18_ENST00000274170.4_Missense_Mutation_p.E722K|CDH18_ENST00000510297.1_5'UTR|CDH18_ENST00000382275.1_Missense_Mutation_p.E722K			Q13634	CAD18_HUMAN	cadherin 18, type 2	722					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)					AGGTCTGCTTCTGCCAGTCTT	0.488																																																0								C	LYS/GLU,	0,4406		0,0,2203	187	172	177		2164,	6	1	5		177	1,8599	1.2+/-3.3	0,1,4299	no	missense,utr-3	CDH18	NM_004934.3,NM_001167667.1	56,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,	722/791,	19473544	1,13005	2203	4300	6503	SO:0001583	missense	1016			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.2164G>A	chr5.hg19:g.19473544C>T	ENSP00000425093:p.Glu722Lys		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	hg19	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.025527	0.93518	0.0	1.16E-4	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170	T;T;T	0.78126	-1.15;-1.15;-1.15	6.01	6.01	0.97437	Cadherin, cytoplasmic domain (1);	0.049556	0.85682	D	0.000000	D	0.86192	0.5874	M	0.71581	2.175	0.58432	D	0.999999	D	0.53619	0.961	P	0.59012	0.85	D	0.84732	0.0746	9	.	.	.	.	19.085	0.93200	0.0:1.0:0.0:0.0	.	722	Q13634	CAD18_HUMAN	K	722	ENSP00000371710:E722K;ENSP00000425093:E722K;ENSP00000274170:E722K	.	E	-	1	0	CDH18	19509301	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	6.085000	0.71343	2.861000	0.98227	0.650000	0.86243	GAA		0.488	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		T	19473544	C	T	19473544	3	4	818	1	0	0	0	0	1	0	0	0	3105	922	32	2	212	2	CDH18	5	19473544	Missense_Mutation	SNP	C	TCGA-Y8-A896-01A-11D-A35Z-10		19473544	161441716	37	49156											
CMYA5	202333	hgsc.bcm.edu	37	5	79031309	79031309	+	Missense_Mutation	SNP	G	G	A			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr5:79031309G>A	ENST00000446378.2	+	2	6752	c.6721G>A	c.(6721-6723)Gta>Ata	p.V2241I		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2241					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)		ATTATCAGAGGTAAAACTTAA	0.363																																																0													100	100	100					5																	79031309		1821	4086	5907	SO:0001583	missense	202333			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.6721G>A	chr5.hg19:g.79031309G>A	ENSP00000394770:p.Val2241Ile		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	hg19	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	G	3.106	-0.183619	0.06340	.	.	ENSG00000164309	ENST00000446378	T	0.19938	2.11	5.94	-0.798	0.10905	.	1.045130	0.07537	N	0.913225	T	0.12732	0.0309	L	0.34521	1.04	0.09310	N	1	B	0.14805	0.011	B	0.08055	0.003	T	0.37291	-0.9712	10	0.19147	T	0.46	.	3.6087	0.08052	0.3329:0.0:0.3348:0.3323	.	2241	Q8N3K9	CMYA5_HUMAN	I	2241	ENSP00000394770:V2241I	ENSP00000394770:V2241I	V	+	1	0	CMYA5	79067065	0.001000	0.12720	0.017000	0.16124	0.000000	0.00434	-0.426000	0.07008	-0.068000	0.12953	-0.912000	0.02778	GTA		0.363	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		A	79031309	G	A	79031309	3	1	818	1	0	0	0	0	1	0	0	0	3592	1261	44	2	6727	2	CMYA5	5	79031309	Missense_Mutation	SNP	G	TCGA-Y8-A896-01A-11D-A35Z-10	59557765	79031309	101883951	38	49157											
COX7C	1350	hgsc.bcm.edu	37	5	85915264	85915264	+	Missense_Mutation	SNP	G	G	A			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr5:85915264G>A	ENST00000509578.1	+	2	270	c.170G>A	c.(169-171)aGa>aAa	p.R57K	COX7C_ENST00000515763.1_Intron|COX7C_ENST00000247655.3_Missense_Mutation_p.R57K|MIR3607_ENST00000362392.1_RNA|COX7C_ENST00000513124.1_3'UTR			P15954	COX7C_HUMAN	cytochrome c oxidase subunit VIIc	57					cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)			endometrium(1)|lung(1)	2		all_cancers(142;7e-06)|Lung NSC(167;0.000601)|all_lung(232;0.000693)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;1.56e-40)|Epithelial(54;3.17e-34)|all cancers(79;3.36e-29)		CTTGTAGTAAGACACCAACTG	0.373																																																0													170	160	163					5																	85915264		2203	4300	6503	SO:0001583	missense	1350			BC001005	CCDS4063.1	5q14	2011-07-04			ENSG00000127184	ENSG00000127184	1.9.3.1	"Mitochondrial respiratory chain complex / Complex IV"	2292	protein-coding gene	gene with protein product		603774				10072584	Standard	NM_001867		Approved		uc003kir.3	P15954	OTTHUMG00000119049	ENST00000509578.1:c.170G>A	chr5.hg19:g.85915264G>A	ENSP00000425759:p.Arg57Lys		Q6NR81	Missense_Mutation	SNP	ENST00000509578.1	hg19	CCDS4063.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.167360	0.57476	.	.	ENSG00000127184	ENST00000247655;ENST00000509578	.	.	.	5.6	5.6	0.85130	Cytochrome c oxidase, subunit VIIc domain (2);	0.000000	0.85682	D	0.000000	T	0.79076	0.4385	.	.	.	0.80722	D	1	D	0.63046	0.992	D	0.76071	0.987	T	0.80130	-0.1511	8	0.54805	T	0.06	-20.5435	15.1019	0.72284	0.0:0.0:1.0:0.0	.	57	P15954	COX7C_HUMAN	K	57	.	ENSP00000247655:R57K	R	+	2	0	COX7C	85951020	1.000000	0.71417	0.999000	0.59377	0.331000	0.28603	6.772000	0.75001	2.622000	0.88805	0.655000	0.94253	AGA		0.373	COX7C-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369746.1	NM_001867		A	85915264	G	A	85915264	3	1	818	1	0	0	0	0	1	0	0	0	3786	942	33	2	176	2	COX7C	5	85915264	Missense_Mutation	SNP	G	TCGA-Y8-A896-01A-11D-A35Z-10	6883955	85915264	94999996	39	49158											
PCDHB1	29930	hgsc.bcm.edu	37	5	140431589	140431589	+	Silent	SNP	C	C	T			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr5:140431589C>T	ENST00000306549.3	+	1	611	c.534C>T	c.(532-534)ttC>ttT	p.F178F		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	178	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)|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)			ATGGGTATTTCCACCTGCACA	0.567																																																0													47	47	47					5																	140431589		2203	4300	6503	SO:0001819	synonymous_variant	29930			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.534C>T	chr5.hg19:g.140431589C>T			Q2M257	Silent	SNP	ENST00000306549.3	hg19	CCDS4243.1																																																																																				0.567	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2	NM_013340		T	140431589	C	T	140431589	2	4	818	1	0	0	0	0	0	0	0	1	11536	854	30	2		2	PCDHB1	5	140431589	Silent	SNP	C	TCGA-Y8-A896-01A-11D-A35Z-10	54516325	140431589	40483671	40	49159											
GLRA1	2741	hgsc.bcm.edu	37	5	151231124	151231124	+	Nonsense_Mutation	SNP	G	G	A			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr5:151231124G>A	ENST00000455880.2	-	7	1025	c.739C>T	c.(739-741)Cag>Tag	p.Q247*	GLRA1_ENST00000471351.2_5'UTR|GLRA1_ENST00000545569.1_Nonsense_Mutation_p.Q164*|GLRA1_ENST00000274576.4_Nonsense_Mutation_p.Q247*			P23415	GLRA1_HUMAN	glycine receptor, alpha 1	247					acrosome reaction (GO:0007340)|action potential (GO:0001508)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|muscle contraction (GO:0006936)|negative regulation of transmission of nerve impulse (GO:0051970)|neuromuscular process controlling posture (GO:0050884)|neuropeptide signaling pathway (GO:0007218)|positive regulation of acrosome reaction (GO:2000344)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|external side of plasma membrane (GO:0009897)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|taurine binding (GO:0030977)|transmitter-gated ion channel activity (GO:0022824)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Ginkgo biloba(DB01381)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Lindane(DB00431)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TAACCCATCTGCCGCTCCAGG	0.498																																																0													108	102	104					5																	151231124		2203	4300	6503	SO:0001587	stop_gained	2741				CCDS4320.1, CCDS54942.1	5q33.1	2012-02-07	2008-01-24		ENSG00000145888	ENSG00000145888		"Ligand-gated ion channels / Glycine receptors"	4326	protein-coding gene	gene with protein product	"startle disease/hyperekplexia", "stiff person syndrome"	138491	"glycine receptor, alpha 1 (startle disease/hyperekplexia)"	STHE		1355335, 8298642	Standard	NM_000171		Approved		uc003lut.3	P23415	OTTHUMG00000130121	ENST00000455880.2:c.739C>T	chr5.hg19:g.151231124G>A	ENSP00000411593:p.Gln247*		B2R6T3|Q14C77|Q6DJV9	Nonsense_Mutation	SNP	ENST00000455880.2	hg19	CCDS54942.1	.	.	.	.	.	.	.	.	.	.	G	38	7.160538	0.98103	.	.	ENSG00000145888	ENST00000274576;ENST00000455880;ENST00000545569	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	19.1084	0.93307	0.0:0.0:1.0:0.0	.	.	.	.	X	247;247;164	.	ENSP00000274576:Q247X	Q	-	1	0	GLRA1	151211317	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.640000	0.98453	2.579000	0.87056	0.655000	0.94253	CAG		0.498	GLRA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373959.1			A	151231124	G	A	151231124	4	1	818	1	0	0	0	0	0	1	0	0	6456	1328	46	2	646	2	GLRA1	5	151231124	Nonsense_Mutation	SNP	G	TCGA-Y8-A896-01A-11D-A35Z-10	10799535	151231124	29684136	41	49160											
GRIA1	2890	hgsc.bcm.edu	37	5	153078598	153078598	+	Missense_Mutation	SNP	G	G	T			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr5:153078598G>T	ENST00000285900.5	+	10	1760	c.1417G>T	c.(1417-1419)Gcc>Tcc	p.A473S	GRIA1_ENST00000448073.4_Missense_Mutation_p.A483S|GRIA1_ENST00000518783.1_Missense_Mutation_p.A483S|GRIA1_ENST00000340592.5_Missense_Mutation_p.A473S|GRIA1_ENST00000521843.2_Missense_Mutation_p.A404S|GRIA1_ENST00000518142.1_Missense_Mutation_p.A393S	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	473					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)	TGACACGAAGGCCTGGAATGG	0.547																																																0													59	58	58					5																	153078598		2203	4300	6503	SO:0001583	missense	2890				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.1417G>T	chr5.hg19:g.153078598G>T	ENSP00000285900:p.Ala473Ser		B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	hg19	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	G	6.497	0.459981	0.12342	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45;1.45	5.44	5.44	0.79542	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.146227	0.64402	D	0.000011	T	0.16171	0.0389	N	0.03115	-0.41	0.41460	D	0.988037	B;B;B;B;B;B	0.21225	0.053;0.053;0.0;0.053;0.012;0.0	B;B;B;B;B;B	0.28465	0.09;0.09;0.005;0.09;0.033;0.01	T	0.11372	-1.0590	10	0.38643	T	0.18	.	11.6187	0.51104	0.0906:0.0:0.9094:0.0	.	483;483;393;483;473;473	E7ESV8;B7Z9G9;B7Z3F6;B7Z2W8;P42261-2;P42261	.;.;.;.;.;GRIA1_HUMAN	S	473;473;393;427;473;404;404;483;483	ENSP00000285900:A473S;ENSP00000427920:A393S;ENSP00000339343:A473S;ENSP00000427864:A404S;ENSP00000442108:A404S;ENSP00000428994:A483S;ENSP00000415569:A483S	ENSP00000285900:A473S	A	+	1	0	GRIA1	153058791	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	3.074000	0.50065	2.548000	0.85928	0.655000	0.94253	GCC		0.547	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			T	153078598	G	T	153078598	3	4	818	1	0	0	0	0	1	0	0	0	6769	1203	42	4	1455	4	GRIA1	5	153078598	Missense_Mutation	SNP	G	TCGA-Y8-A896-01A-11D-A35Z-10	1847474	153078598	27836662	42	49161											
GRM4	2914	hgsc.bcm.edu	37	6	34100828	34100828	+	Missense_Mutation	SNP	C	C	A			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr6:34100828C>A	ENST00000538487.2	-	2	889	c.446G>T	c.(445-447)cGt>cTt	p.R149L	GRM4_ENST00000374177.3_Intron|GRM4_ENST00000374181.4_Missense_Mutation_p.R149L	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	149					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						ACCCACCACACGTTCAGGCTT	0.607																																																0													66	54	58					6																	34100828		2203	4300	6503	SO:0001583	missense	2914			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.446G>T	chr6.hg19:g.34100828C>A	ENSP00000440556:p.Arg149Leu		B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Missense_Mutation	SNP	ENST00000538487.2	hg19	CCDS4787.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.305763	0.40795	.	.	ENSG00000124493	ENST00000374181;ENST00000538487	D;D	0.86694	-2.16;-2.16	4.29	4.29	0.51040	Extracellular ligand-binding receptor (1);	0.000000	0.64402	D	0.000002	D	0.86443	0.5934	L	0.52011	1.625	0.80722	D	1	B;P;D	0.53462	0.0;0.8;0.96	B;P;P	0.54965	0.01;0.573;0.765	D	0.85668	0.1293	10	0.37606	T	0.19	.	16.5082	0.84278	0.0:1.0:0.0:0.0	.	149;149;149	B7ZLU9;A1L4F9;Q14833	.;.;GRM4_HUMAN	L	149	ENSP00000363296:R149L;ENSP00000440556:R149L	ENSP00000363296:R149L	R	-	2	0	GRM4	34208806	0.993000	0.37304	0.990000	0.47175	0.980000	0.70556	3.896000	0.56266	2.230000	0.72887	0.467000	0.42956	CGT		0.607	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2			A	34100828	C	A	34100828	3	1	818	1	0	0	0	0	1	0	0	0	6801	536	19	4	2332	4	GRM4	6	34100828	Missense_Mutation	SNP	C	TCGA-Y8-A896-01A-11D-A35Z-10		34100828	137014239	43	49162											
RSPH10B	728194	hgsc.bcm.edu	37	7	6797488	6797488	+	Missense_Mutation	SNP	C	C	A			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr7:6797488C>A	ENST00000403107.1	+	2	567	c.180C>A	c.(178-180)gaC>gaA	p.D60E	RSPH10B2_ENST00000297186.3_Missense_Mutation_p.D60E|RSPH10B2_ENST00000404077.1_Missense_Mutation_p.D60E|RSPH10B2_ENST00000433859.2_Missense_Mutation_p.D60E|RSPH10B2_ENST00000359718.3_5'UTR			B2RC85	R10B2_HUMAN	radial spoke head 10 homolog B2 (Chlamydomonas)	60										breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|skin(2)	15						CCAAAAAAGACCGCCAAAACG	0.488																																																0													104	117	113					7																	6797488		2156	4264	6420	SO:0001583	missense	222967				CCDS43552.1	7p22.1	2008-07-04			ENSG00000169402	ENSG00000169402			34385	protein-coding gene	gene with protein product							Standard	NM_001099697		Approved		uc003sqw.1	B2RC85	OTTHUMG00000151856	ENST00000403107.1:c.180C>A	chr7.hg19:g.6797488C>A	ENSP00000384766:p.Asp60Glu		A6NMW7|B2RXI4|B2RXJ0|Q86ST9|Q8NE68	Missense_Mutation	SNP	ENST00000403107.1	hg19	CCDS43552.1	.	.	.	.	.	.	.	.	.	.	C	0.024	-1.389722	0.01185	.	.	ENSG00000169402	ENST00000403107;ENST00000404077;ENST00000297186;ENST00000433859	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	2.65	-1.66	0.08265	.	29.558000	0.00166	U	0.000000	T	0.18383	0.0441	N	0.02368	-0.58	0.20926	N	0.99983	B	0.06786	0.001	B	0.06405	0.002	T	0.30679	-0.9970	10	0.02654	T	1	.	4.2993	0.10916	0.0:0.3509:0.2772:0.3719	.	60	B2RC85	R10B2_HUMAN	E	60	ENSP00000384766:D60E;ENSP00000386102:D60E;ENSP00000297186:D60E;ENSP00000416710:D60E	ENSP00000297186:D60E	D	+	3	2	RSPH10B2	6764013	0.004000	0.15560	0.001000	0.08648	0.064000	0.16182	-0.256000	0.08757	-0.632000	0.05553	0.392000	0.25879	GAC		0.488	RSPH10B2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324184.4	NM_001099697		A	6797488	C	A	6797488	3	1	818	1	0	0	0	0	1	0	0	0	13709	506	18	4	2871	4	RSPH10B	7	6797488	Missense_Mutation	SNP	C	TCGA-Y8-A896-01A-11D-A35Z-10		6797488	152341175	44	49163											
HOXA1	3198	hgsc.bcm.edu	37	7	27135159	27135159	+	Nonsense_Mutation	SNP	G	G	A			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr7:27135159G>A	ENST00000343060.4	-	1	434	c.373C>T	c.(373-375)Cag>Tag	p.Q125*	HOTAIRM1_ENST00000429611.3_RNA|HOTAIRM1_ENST00000434063.3_RNA|HOTAIRM1_ENST00000495032.1_RNA|HOXA1_ENST00000355633.5_Intron|HOTAIRM1_ENST00000425358.2_RNA	NM_005522.4	NP_005513	P49639	HXA1_HUMAN	homeobox A1	125					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						GGAGCGCACTGGGGGTACCCA	0.577																																																0													76	80	79					7																	27135159		2203	4300	6503	SO:0001587	stop_gained	3198				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.373C>T	chr7.hg19:g.27135159G>A	ENSP00000343246:p.Gln125*		A4D184|B2R8U7|O43363	Nonsense_Mutation	SNP	ENST00000343060.4	hg19	CCDS5401.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.982192	0.74474	.	.	ENSG00000105991	ENST00000343060	.	.	.	4.88	-1.21	0.09524	.	0.879495	0.10099	N	0.716190	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	5.9292	0.19130	0.4767:0.1382:0.3852:0.0	.	.	.	.	X	125	.	ENSP00000343246:Q125X	Q	-	1	0	HOXA1	27101684	1.000000	0.71417	0.996000	0.52242	0.957000	0.61999	1.690000	0.37711	-0.079000	0.12707	0.462000	0.41574	CAG		0.577	HOXA1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358454.1			A	27135159	G	A	27135159	4	1	818	1	0	0	0	0	0	1	0	0	7290	1357	47	2	642	2	HOXA1	7	27135159	Nonsense_Mutation	SNP	G	TCGA-Y8-A896-01A-11D-A35Z-10	20337671	27135159	132003504	45	49164											
TAX1BP1	8887	hgsc.bcm.edu	37	7	27809433	27809433	+	Missense_Mutation	SNP	C	C	A			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr7:27809433C>A	ENST00000396319.2	+	5	680	c.592C>A	c.(592-594)Caa>Aaa	p.Q198K	TAX1BP1_ENST00000543117.1_Missense_Mutation_p.Q198K|TAX1BP1_ENST00000409980.1_Missense_Mutation_p.Q198K|TAX1BP1_ENST00000265393.6_Missense_Mutation_p.Q198K|TAX1BP1_ENST00000494033.1_3'UTR|TAX1BP1_ENST00000433216.2_Missense_Mutation_p.Q41K	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	198					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)			AAGATGTGACCAACTGCAAGC	0.368																																																0													86	78	81					7																	27809433		2203	4300	6503	SO:0001583	missense	8887			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.592C>A	chr7.hg19:g.27809433C>A	ENSP00000379612:p.Gln198Lys		B4DKU7|E7ENV2|O60398|O95770|Q13311|Q9BQG5|Q9UI88	Missense_Mutation	SNP	ENST00000396319.2	hg19	CCDS5415.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.037273	0.54896	.	.	ENSG00000106052	ENST00000543117;ENST00000265393;ENST00000409980;ENST00000433216;ENST00000396319	T;T;T;T;T	0.08984	3.03;3.03;3.03;3.03;3.03	5.57	4.68	0.58851	.	0.000000	0.51477	D	0.000093	T	0.14184	0.0343	L	0.42245	1.32	0.53005	D	0.999969	P;P;P	0.49783	0.928;0.605;0.734	P;P;B	0.51266	0.664;0.497;0.302	T	0.04870	-1.0921	10	0.27082	T	0.32	-2.1773	15.6661	0.77230	0.1384:0.8616:0.0:0.0	.	41;198;198	E7ENV2;Q86VP1;Q86VP1-2	.;TAXB1_HUMAN;.	K	198;198;198;41;198	ENSP00000444811:Q198K;ENSP00000265393:Q198K;ENSP00000386515:Q198K;ENSP00000391907:Q41K;ENSP00000379612:Q198K	ENSP00000265393:Q198K	Q	+	1	0	TAX1BP1	27775958	0.991000	0.36638	0.954000	0.39281	0.630000	0.37929	4.066000	0.57520	1.316000	0.45131	0.650000	0.86243	CAA		0.368	TAX1BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214142.1	NM_006024		A	27809433	C	A	27809433	3	1	818	1	0	0	0	0	1	0	0	0	15599	595	21	4	606	4	TAX1BP1	7	27809433	Missense_Mutation	SNP	C	TCGA-Y8-A896-01A-11D-A35Z-10	674274	27809433	131329230	46	49165											
GNAI1	2770	hgsc.bcm.edu	37	7	79840317	79840317	+	Missense_Mutation	SNP	G	G	C			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr7:79840317G>C	ENST00000351004.3	+	6	996	c.623G>C	c.(622-624)cGg>cCg	p.R208P	GNAI1_ENST00000457358.2_Missense_Mutation_p.R156P	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1	208					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)	p.R208Q(1)		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						AGATCTGAGCGGAAGAAGTGG	0.423																																																1	Substitution - Missense(1)	large_intestine(1)											164	139	148					7																	79840317		2203	4300	6503	SO:0001583	missense	2770			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.623G>C	chr7.hg19:g.79840317G>C	ENSP00000343027:p.Arg208Pro		A8KA88|B4E2V1|C9J3A4|P04898|P11015|P31871|Q5U074|Q8TAN5|Q9UGA4	Missense_Mutation	SNP	ENST00000351004.3	hg19	CCDS5595.1	.	.	.	.	.	.	.	.	.	.	G	33	5.234999	0.95207	.	.	ENSG00000127955	ENST00000351004;ENST00000457358	D;D	0.92911	-3.13;-3.13	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.97993	0.9339	H	0.98612	4.28	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.99041	1.0824	9	.	.	.	.	19.8478	0.96722	0.0:0.0:1.0:0.0	.	208	P63096	GNAI1_HUMAN	P	208;156	ENSP00000343027:R208P;ENSP00000410572:R156P	.	R	+	2	0	GNAI1	79678253	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.685000	0.91497	0.650000	0.86243	CGG		0.423	GNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253254.1	NM_002069		C	79840317	G	C	79840317	3	2	818	1	0	0	0	0	1	0	0	0	6506	1116	39	4	645	4	GNAI1	7	79840317	Missense_Mutation	SNP	G	TCGA-Y8-A896-01A-11D-A35Z-10	52030884	79840317	79298346	47	49166											
HGF	3082	hgsc.bcm.edu	37	7	81331961	81331961	+	Missense_Mutation	SNP	C	C	T			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr7:81331961C>T	ENST00000222390.5	-	18	2349	c.2123G>A	c.(2122-2124)cGa>cAa	p.R708Q	HGF_ENST00000457544.2_Missense_Mutation_p.R703Q	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	708	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				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						ATATGCTACTCGGACAAAAAT	0.398																																																0													130	124	126					7																	81331961		2203	4299	6502	SO:0001583	missense	3082				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.2123G>A	chr7.hg19:g.81331961C>T	ENSP00000222390:p.Arg708Gln		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Missense_Mutation	SNP	ENST00000222390.5	hg19	CCDS5597.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.554522	0.86231	.	.	ENSG00000019991	ENST00000222390;ENST00000457544	D;D	0.84589	-1.87;-1.87	5.3	5.3	0.74995	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.233781	0.41823	D	0.000816	D	0.91882	0.7430	M	0.71920	2.185	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.992;0.995	D	0.90969	0.4818	10	0.42905	T	0.14	.	19.3172	0.94220	0.0:1.0:0.0:0.0	.	703;708	P14210-3;P14210	.;HGF_HUMAN	Q	708;703	ENSP00000222390:R708Q;ENSP00000391238:R703Q	ENSP00000222390:R708Q	R	-	2	0	HGF	81169897	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.736000	0.62059	2.643000	0.89663	0.655000	0.94253	CGA		0.398	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601		T	81331961	C	T	81331961	3	4	818	1	0	0	0	0	1	0	0	0	7087	884	31	1	67	1	HGF	7	81331961	Missense_Mutation	SNP	C	TCGA-Y8-A896-01A-11D-A35Z-10	1491644	81331961	77806702	48	49167											
TRRAP	8295	hgsc.bcm.edu	37	7	98576479	98576479	+	Silent	SNP	C	C	T			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr7:98576479C>T	ENST00000359863.4	+	57	8774	c.8565C>T	c.(8563-8565)tgC>tgT	p.C2855C	TRRAP_ENST00000446306.3_Silent_p.C2837C|TRRAP_ENST00000355540.3_Silent_p.C2837C	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2855	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				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)	p.C2837C(1)|p.C2855C(1)		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)			TCCTGGAGTGCGCCTGGCGGG	0.617																																																2	Substitution - coding silent(2)	endometrium(2)											75	78	77					7																	98576479		2203	4300	6503	SO:0001819	synonymous_variant	8295			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.8565C>T	chr7.hg19:g.98576479C>T			A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	hg19	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	C	10.77	1.443777	0.25987	.	.	ENSG00000196367	ENST00000456197	.	.	.	6.03	-0.483	0.12075	.	.	.	.	.	T	0.57725	0.2073	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51748	-0.8666	4	.	.	.	.	10.7505	0.46207	0.0:0.4332:0.0:0.5668	.	.	.	.	V	2577	.	.	A	+	2	0	TRRAP	98414415	0.995000	0.38212	0.987000	0.45799	0.991000	0.79684	0.304000	0.19228	-0.300000	0.08895	-0.302000	0.09304	GCG		0.617	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		T	98576479	C	T	98576479	2	4	818	1	0	0	0	0	0	0	0	1	16606	776	27	1		1	TRRAP	7	98576479	Silent	SNP	C	TCGA-Y8-A896-01A-11D-A35Z-10	17244518	98576479	60562184	49	49168											
POP7	10248	hgsc.bcm.edu	37	7	100304790	100304790	+	Missense_Mutation	SNP	C	C	A			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr7:100304790C>A	ENST00000303151.4	+	2	599	c.337C>A	c.(337-339)Cca>Aca	p.P113T		NM_005837.2	NP_005828.2	O75817	POP7_HUMAN	processing of precursor 7, ribonuclease P/MRP subunit (S. cerevisiae)	113					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleolar ribonuclease P complex (GO:0005655)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ribonuclease P activity (GO:0004526)			endometrium(2)|kidney(1)|ovary(1)	4	Lung NSC(181;0.041)|all_lung(186;0.0581)					TGAGCTGGAGCCAGAGACCGA	0.592																																																0													67	68	68					7																	100304790		2203	4300	6503	SO:0001583	missense	10248			U94316	CCDS5704.1	7q22	2012-05-21	2007-06-26		ENSG00000172336	ENSG00000172336			19949	protein-coding gene	gene with protein product	"ribonuclease P protein subunit p20"	606113	"processing of precursor 7, ribonuclease P subunit (S. cerevisiae)"			9630247	Standard	NM_005837		Approved	RPP20, RPP2	uc003uwh.4	O75817	OTTHUMG00000044311	ENST00000303151.4:c.337C>A	chr7.hg19:g.100304790C>A	ENSP00000304353:p.Pro113Thr		A4D2E0|Q9BV74	Missense_Mutation	SNP	ENST00000303151.4	hg19	CCDS5704.1	.	.	.	.	.	.	.	.	.	.	C	19.83	3.900727	0.72754	.	.	ENSG00000172336	ENST00000303151;ENST00000457480	.	.	.	5.67	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.75199	0.3817	M	0.65975	2.015	0.52501	D	0.999954	D	0.76494	0.999	D	0.70935	0.971	T	0.77576	-0.2536	9	0.87932	D	0	-13.8558	11.755	0.51870	0.176:0.824:0.0:0.0	.	113	O75817	POP7_HUMAN	T	113	.	ENSP00000304353:P113T	P	+	1	0	POP7	100142726	1.000000	0.71417	0.891000	0.34965	0.608000	0.37181	3.598000	0.54038	1.325000	0.45301	0.561000	0.74099	CCA		0.592	POP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103070.1	NM_005837		A	100304790	C	A	100304790	3	1	818	1	0	0	0	0	1	0	0	0	12256	739	26	4	339	4	POP7	7	100304790	Missense_Mutation	SNP	C	TCGA-Y8-A896-01A-11D-A35Z-10	1728311	100304790	58833873	50	49169											
PODXL	5420	hgsc.bcm.edu	37	7	131241055	131241055	+	Missense_Mutation	SNP	A	A	G			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr7:131241055A>G	ENST00000378555.3	-	1	311	c.64T>C	c.(64-66)Tcg>Ccg	p.S22P	PODXL_ENST00000537928.1_Missense_Mutation_p.S22P|PODXL_ENST00000322985.9_Missense_Mutation_p.S22P|PODXL_ENST00000541194.1_Missense_Mutation_p.S22P|PODXL_ENST00000465001.1_Intron			O00592	PODXL_HUMAN	podocalyxin-like	22					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)					gacggcgacgacggcagcagc	0.741																																																0													5	8	7					7																	131241055		1914	3836	5750	SO:0001583	missense	5420				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.64T>C	chr7.hg19:g.131241055A>G	ENSP00000367817:p.Ser22Pro		A6NHX8|Q52LZ7|Q53ER6	Missense_Mutation	SNP	ENST00000378555.3	hg19	CCDS34755.1	.	.	.	.	.	.	.	.	.	.	A	10.93	1.488975	0.26686	.	.	ENSG00000128567	ENST00000541194;ENST00000537928;ENST00000378555;ENST00000322985	T;T;T;T	0.12774	2.82;2.65;2.82;2.85	.	.	.	.	7739.210000	0.00166	U	0.000000	T	0.08670	0.0215	N	0.14661	0.345	0.09310	N	0.999994	.	.	.	.	.	.	T	0.24728	-1.0152	6	0.29301	T	0.29	.	.	.	.	.	22;22	O00592-2;O00592	.;PODXL_HUMAN	P	22	ENSP00000440518:S22P;ENSP00000442655:S22P;ENSP00000367817:S22P;ENSP00000319782:S22P	ENSP00000319782:S22P	S	-	1	0	PODXL	130891595	0.001000	0.12720	0.027000	0.17364	0.027000	0.11550	0.743000	0.26231	0.056000	0.16144	0.055000	0.15244	TCG		0.741	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2	NM_001018111		G	131241055	A	G	131241055	3	3	818	1	0	0	0	0	1	0	0	0	12182	275	10	3	1648	3	PODXL	7	131241055	Missense_Mutation	SNP	A	TCGA-Y8-A896-01A-11D-A35Z-10	30936265	131241055	27897608	51	49170											
MFHAS1	9258	hgsc.bcm.edu	37	8	8654999	8654999	+	Missense_Mutation	SNP	C	C	G			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr8:8654999C>G	ENST00000276282.6	-	2	3587	c.3001G>C	c.(3001-3003)Gag>Cag	p.E1001Q	MFHAS1_ENST00000520091.1_5'UTR	NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	1001		Breakpoint for translocation to form chimeric MASL1.								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)		CTCAGCAACTCCCCTGTAGGA	0.552																																					Melanoma(103;1201 2045 17515 28966)											0													81	68	72					8																	8654999		2203	4300	6503	SO:0001583	missense	9258			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.3001G>C	chr8.hg19:g.8654999C>G	ENSP00000276282:p.Glu1001Gln		Q96CI0	Missense_Mutation	SNP	ENST00000276282.6	hg19	CCDS34844.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.529145	0.64860	.	.	ENSG00000147324	ENST00000276282	T	0.38401	1.14	5.73	5.73	0.89815	.	0.068346	0.56097	D	0.000026	T	0.56292	0.1975	L	0.54323	1.7	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.43956	-0.9359	10	0.29301	T	0.29	.	18.882	0.92358	0.0:1.0:0.0:0.0	.	1001	Q9Y4C4	MFHA1_HUMAN	Q	1001	ENSP00000276282:E1001Q	ENSP00000276282:E1001Q	E	-	1	0	MFHAS1	8692409	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.251000	0.78297	2.703000	0.92315	0.551000	0.68910	GAG		0.552	MFHAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374724.2	NM_004225		G	8654999	C	G	8654999	3	3	818	1	0	0	0	0	1	0	0	0	9523	864	30	4	165	4	MFHAS1	8	8654999	Missense_Mutation	SNP	C	TCGA-Y8-A896-01A-11D-A35Z-10		8654999	137709023	52	49171											
TERF1	7013	hgsc.bcm.edu	37	8	73921213	73921213	+	Missense_Mutation	SNP	C	C	G			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr8:73921213C>G	ENST00000276603.5	+	1	115	c.92C>G	c.(91-93)aCa>aGa	p.T31R	TERF1_ENST00000276602.6_Missense_Mutation_p.T31R	NM_017489.2	NP_059523.2	P54274	TERF1_HUMAN	telomeric repeat binding factor (NIMA-interacting) 1	31	Asp/Glu-rich (acidic).				age-dependent telomere shortening (GO:0001309)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of DNA replication (GO:0008156)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via semi-conservative replication (GO:0032214)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of apoptotic process (GO:0043065)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of mitosis (GO:0045840)|positive regulation of mitotic cell cycle (GO:0045931)|protein homooligomerization (GO:0051260)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere shortening (GO:0010834)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded telomeric DNA binding (GO:0003691)|microtubule binding (GO:0008017)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|telomeric DNA binding (GO:0042162)			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9	Breast(64;0.218)		Epithelial(68;0.0984)			ATGGCAGAAACAGAGAGAAAC	0.637																																																0													21	23	22					8																	73921213		2201	4299	6500	SO:0001583	missense	7013			U74382	CCDS6210.1, CCDS6211.1	8q21.11	2011-05-24			ENSG00000147601	ENSG00000147601			11728	protein-coding gene	gene with protein product		600951		TRBF1		9391075	Standard	NM_003218		Approved	PIN2, TRF1, TRF	uc003xzd.2	P54274	OTTHUMG00000164522	ENST00000276603.5:c.92C>G	chr8.hg19:g.73921213C>G	ENSP00000276603:p.Thr31Arg		A7XP29|Q15553|Q8NHT6|Q93029	Missense_Mutation	SNP	ENST00000276603.5	hg19	CCDS6211.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.207086	0.39003	.	.	ENSG00000147601	ENST00000276603;ENST00000276602;ENST00000518874	.	.	.	4.04	-2.49	0.06403	.	1.175850	0.05898	N	0.629573	T	0.22627	0.0546	N	0.24115	0.695	0.09310	N	1	B;B	0.31548	0.328;0.22	B;B	0.32928	0.155;0.074	T	0.29640	-1.0005	9	0.72032	D	0.01	.	3.719	0.08449	0.4111:0.334:0.0:0.255	.	31;31	P54274-2;P54274	.;TERF1_HUMAN	R	31	.	ENSP00000276602:T31R	T	+	2	0	TERF1	74083767	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-2.062000	0.01390	-0.546000	0.06216	0.557000	0.71058	ACA		0.637	TERF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379093.1	NM_017489		G	73921213	C	G	73921213	3	3	818	1	0	0	0	0	1	0	0	0	15766	478	17	4	94	4	TERF1	8	73921213	Missense_Mutation	SNP	C	TCGA-Y8-A896-01A-11D-A35Z-10	65266214	73921213	72442809	53	49172											
FAM91A1	157769	hgsc.bcm.edu	37	8	124799974	124799974	+	Missense_Mutation	SNP	T	T	A			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr8:124799974T>A	ENST00000334705.7	+	14	1508	c.1262T>A	c.(1261-1263)cTt>cAt	p.L421H	FAM91A1_ENST00000521166.1_Missense_Mutation_p.L421H	NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	421										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)			GACAGCTTTCTTATAGAACTA	0.363																																																0													91	88	89					8																	124799974		1846	4099	5945	SO:0001583	missense	157769			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.1262T>A	chr8.hg19:g.124799974T>A	ENSP00000335082:p.Leu421His		B6YY23|Q658T5|Q8TE89	Missense_Mutation	SNP	ENST00000334705.7	hg19	CCDS6346.2	.	.	.	.	.	.	.	.	.	.	T	19.98	3.926656	0.73327	.	.	ENSG00000176853	ENST00000521166;ENST00000334705	T;T	0.43294	0.95;0.95	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.68118	0.2966	M	0.84082	2.675	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.73575	-0.3939	10	0.87932	D	0	.	16.0241	0.80528	0.0:0.0:0.0:1.0	.	421;421	E7ER68;Q658Y4	.;F91A1_HUMAN	H	421	ENSP00000429491:L421H;ENSP00000335082:L421H	ENSP00000335082:L421H	L	+	2	0	FAM91A1	124869155	1.000000	0.71417	0.932000	0.37286	0.493000	0.33554	7.938000	0.87678	2.248000	0.74166	0.533000	0.62120	CTT		0.363	FAM91A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256607.1	NM_144963		A	124799974	T	A	124799974	3	1	818	1	0	0	0	0	1	0	0	0	5653	1609	56	5	1316	5	FAM91A1	8	124799974	Missense_Mutation	SNP	T	TCGA-Y8-A896-01A-11D-A35Z-10	50878761	124799974	21564048	54	49173											
ADCY8	114	hgsc.bcm.edu	37	8	132051979	132051979	+	Silent	SNP	A	A	G			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr8:132051979A>G	ENST00000286355.5	-	1	2693	c.601T>C	c.(601-603)Ttg>Ctg	p.L201L	ADCY8_ENST00000377928.3_Silent_p.L201L	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	201					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)			GCCAGGCTCAAGTGTAGGACC	0.587										HNSCC(32;0.087)																																						0													83	86	85					8																	132051979		2203	4300	6503	SO:0001819	synonymous_variant	114			Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"Adenylate cyclases"	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.601T>C	chr8.hg19:g.132051979A>G				Silent	SNP	ENST00000286355.5	hg19	CCDS6363.1																																																																																				0.587	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			G	132051979	A	G	132051979	2	3	818	1	0	0	0	0	0	0	0	1	300	69	3	3		3	ADCY8	8	132051979	Silent	SNP	A	TCGA-Y8-A896-01A-11D-A35Z-10	7252005	132051979	14312043	55	49174											
ZFAT	57623	hgsc.bcm.edu	37	8	135596131	135596131	+	Missense_Mutation	SNP	T	T	C			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr8:135596131T>C	ENST00000377838.3	-	10	3005	c.2831A>G	c.(2830-2832)aAg>aGg	p.K944R	ZFAT_ENST00000520214.1_Missense_Mutation_p.K932R|ZFAT_ENST00000517307.1_5'UTR|ZFAT_ENST00000520727.1_Missense_Mutation_p.K932R|ZFAT_ENST00000520356.1_Missense_Mutation_p.K932R|ZFAT_ENST00000523399.1_Missense_Mutation_p.K882R|ZFAT_ENST00000429442.2_Missense_Mutation_p.K932R	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	944					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)			TTTGAATTTCTTGCCACACAT	0.438																																																0													162	144	150					8																	135596131		1953	4163	6116	SO:0001583	missense	57623			BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"Zinc fingers, C2H2-type"	19899	protein-coding gene	gene with protein product		610931	"zinc finger protein 406"	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.2831A>G	chr8.hg19:g.135596131T>C	ENSP00000367069:p.Lys944Arg		B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	ENST00000377838.3	hg19	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	T	28.3	4.906547	0.92107	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399	T;T;T;T;T;T	0.12879	2.64;2.64;2.64;2.64;2.64;2.64	5.68	5.68	0.88126	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	0.29652	0.0740	L	0.41710	1.295	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.998;0.999;0.996	T	0.01252	-1.1405	10	0.59425	D	0.04	-35.6191	15.1066	0.72326	0.0:0.0:0.0:1.0	.	882;932;944	E9PER3;E9PBN4;Q9P243	.;.;ZFAT_HUMAN	R	932;932;932;944;932;831;882	ENSP00000427879:K932R;ENSP00000427831:K932R;ENSP00000394501:K932R;ENSP00000367069:K944R;ENSP00000428483:K932R;ENSP00000429091:K882R	ENSP00000326997:K831R	K	-	2	0	ZFAT	135665313	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.929000	0.87595	2.156000	0.67533	0.460000	0.39030	AAG		0.438	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		C	135596131	T	C	135596131	3	2	818	1	0	0	0	0	1	0	0	0	17637	1609	56	3	928	3	ZFAT	8	135596131	Missense_Mutation	SNP	T	TCGA-Y8-A896-01A-11D-A35Z-10	3544152	135596131	10767891	56	49175											
CER1	9350	hgsc.bcm.edu	37	9	14722265	14722265	+	Missense_Mutation	SNP	G	G	C			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr9:14722265G>C	ENST00000380911.3	-	1	450	c.406C>G	c.(406-408)Cac>Gac	p.H136D		NM_005454.2	NP_005445.1	O95813	CER1_HUMAN	cerberus 1, DAN family BMP antagonist	136					anterior/posterior axis specification (GO:0009948)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|bone mineralization (GO:0030282)|cell migration involved in gastrulation (GO:0042074)|cellular response to BMP stimulus (GO:0071773)|determination of dorsal identity (GO:0048263)|gastrulation (GO:0007369)|growth plate cartilage chondrocyte proliferation (GO:0003419)|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 mesoderm development (GO:2000381)|nervous system development (GO:0007399)|sequestering of BMP in extracellular matrix (GO:0035582)|signal transduction involved in regulation of gene expression (GO:0023019)|ureteric bud development (GO:0001657)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	BMP binding (GO:0036122)|morphogen activity (GO:0016015)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		AACATGAAGTGGTGCCAGAAT	0.517																																																0													92	92	92					9																	14722265		2203	4300	6503	SO:0001583	missense	9350			AF090189	CCDS6476.1	9p23-p22	2013-02-26	2013-02-26		ENSG00000147869	ENSG00000147869			1862	protein-coding gene	gene with protein product		603777	"cerberus 1 (Xenopus laevis) homolog (cysteine knot superfamily)", "cerberus 1, cysteine knot superfamily, homolog (Xenopus laevis)"			10049596	Standard	NM_005454		Approved	DAND4	uc003zlj.3	O95813	OTTHUMG00000021022	ENST00000380911.3:c.406C>G	chr9.hg19:g.14722265G>C	ENSP00000370297:p.His136Asp		Q6ISJ1|Q6ISJ6|Q6ISQ2|Q6ISS1	Missense_Mutation	SNP	ENST00000380911.3	hg19	CCDS6476.1	.	.	.	.	.	.	.	.	.	.	G	12.53	1.965365	0.34659	.	.	ENSG00000147869	ENST00000380911	T	0.28454	1.61	5.21	2.9	0.33743	DAN (1);	0.482217	0.21040	N	0.081195	T	0.36468	0.0968	L	0.51422	1.61	0.25991	N	0.982241	P	0.48998	0.918	P	0.52386	0.697	T	0.09997	-1.0649	10	0.37606	T	0.19	-4.9758	9.5839	0.39504	0.1638:0.0:0.8362:0.0	.	136	O95813	CER1_HUMAN	D	136	ENSP00000370297:H136D	ENSP00000370297:H136D	H	-	1	0	CER1	14712265	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.053000	0.30442	0.682000	0.31407	0.655000	0.94253	CAC		0.517	CER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055453.1	NM_005454		C	14722265	G	C	14722265	3	2	818	1	0	0	0	0	1	0	0	0	3267	1348	47	4	405	4	CER1	9	14722265	Missense_Mutation	SNP	G	TCGA-Y8-A896-01A-11D-A35Z-10		14722265	126491166	57	49176											
DENND4C	55667	hgsc.bcm.edu	37	9	19372144	19372144	+	Silent	SNP	G	G	A			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr9:19372144G>A	ENST00000380432.2	+	28	5028	c.4995G>A	c.(4993-4995)agG>agA	p.R1665R	RP11-513M16.7_ENST00000609609.1_RNA|DENND4C_ENST00000602925.1_Silent_p.R1901R|DENND4C_ENST00000434457.2_Silent_p.R1950R			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	1665					cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						AGTGGTGCAGGAAGTGTTTTG	0.393																																																0													117	123	121					9																	19372144		2203	4300	6503	SO:0001819	synonymous_variant	55667			AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"DENN/MADD domain containing"	26079	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 55B", "chromosome 9 open reading frame 55"	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.4995G>A	chr9.hg19:g.19372144G>A			A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Silent	SNP	ENST00000380432.2	hg19																																																																																					0.393	DENND4C-201	KNOWN	basic	protein_coding	protein_coding		NM_017925		A	19372144	G	A	19372144	2	1	818	1	0	0	0	0	0	0	0	1	4437	1165	41	2		2	DENND4C	9	19372144	Silent	SNP	G	TCGA-Y8-A896-01A-11D-A35Z-10	4649879	19372144	121841287	58	49177											
TTC16	158248	hgsc.bcm.edu	37	9	130480052	130480052	+	Splice_Site	SNP	G	G	A			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr9:130480052G>A	ENST00000373289.3	+	4	506		c.e4+1		PTRH1_ENST00000423807.1_5'Flank|PTRH1_ENST00000543175.1_5'Flank|TTC16_ENST00000393748.4_Splice_Site|PTRH1_ENST00000419060.1_Intron|PTRH1_ENST00000429848.1_Intron	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16											central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						CTACCTACAGGTGCCTGGGGC	0.622																																																0													44	47	46					9																	130480052		2203	4300	6503	SO:0001630	splice_region_variant	158248			AK057342	CCDS6875.1	9q34.13	2013-01-10			ENSG00000167094	ENSG00000167094		"Tetratricopeptide (TTC) repeat domain containing"	26536	protein-coding gene	gene with protein product						12477932	Standard	NM_144965		Approved	FLJ32780	uc004brq.1	Q8NEE8	OTTHUMG00000020711	ENST00000373289.3:c.426+1G>A	chr9.hg19:g.130480052G>A			B4DYG4|B5ME24|Q5JU66|Q96M72	Splice_Site	SNP	ENST00000373289.3	hg19	CCDS6875.1	.	.	.	.	.	.	.	.	.	.	G	10.53	1.374900	0.24857	.	.	ENSG00000167094	ENST00000373289	.	.	.	4.6	4.6	0.57074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8947	0.70636	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TTC16	129519873	1.000000	0.71417	1.000000	0.80357	0.057000	0.15508	6.991000	0.76232	2.132000	0.65825	0.313000	0.20887	.		0.622	TTC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054224.1	NM_144965	Intron	A	130480052	G	A	130480052	5	1	818	1	0	0	0	0	0	0	1	0	16688	1275	44	2	441	2	TTC16	9	130480052	Splice_Site	SNP	G	TCGA-Y8-A896-01A-11D-A35Z-10	111107908	130480052	10733379	59	49178											
C9orf96	169436	hgsc.bcm.edu	37	9	136249679	136249679	+	Missense_Mutation	SNP	G	G	A			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr9:136249679G>A	ENST00000371957.3	+	3	321	c.214G>A	c.(214-216)Gag>Aag	p.E72K	C9orf96_ENST00000426926.2_Missense_Mutation_p.E72K|C9orf96_ENST00000468046.1_3'UTR|C9orf96_ENST00000371955.1_5'UTR	NM_153710.3	NP_714921.4	Q8NE28	STKL1_HUMAN		72	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		TCAGGCCCTGGAGGAGGTAAC	0.483																																																0													218	189	199					9																	136249679		2203	4300	6503	SO:0001583	missense	169436																														ENST00000371957.3:c.214G>A	chr9.hg19:g.136249679G>A	ENSP00000361025:p.Glu72Lys		Q5T8U8|Q6ZMP6|Q6ZMQ5	Missense_Mutation	SNP	ENST00000371957.3	hg19	CCDS35169.1	.	.	.	.	.	.	.	.	.	.	G	3.589	-0.083913	0.07141	.	.	ENSG00000198870	ENST00000426926;ENST00000371957	T;T	0.17370	2.28;2.28	3.83	2.92	0.33932	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.477248	0.18996	N	0.125463	T	0.07234	0.0183	N	0.12471	0.22	0.80722	D	1	B	0.12013	0.005	B	0.13407	0.009	T	0.16158	-1.0412	10	0.02654	T	1	-21.1225	8.7429	0.34569	0.1179:0.0:0.8821:0.0	.	72	Q8NE28	SGK71_HUMAN	K	72	ENSP00000398807:E72K;ENSP00000361025:E72K	ENSP00000361025:E72K	E	+	1	0	C9orf96	135239500	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	1.805000	0.38883	2.086000	0.62901	0.379000	0.24179	GAG		0.483	C9orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054855.1			A	136249679	G	A	136249679	3	1	818	1	0	0	0	0	1	0	0	0	2510	1175	41	2	224	2	C9orf96	9	136249679	Missense_Mutation	SNP	G	TCGA-Y8-A896-01A-11D-A35Z-10	5769627	136249679	4963752	60	49179											
RNF208	727800	hgsc.bcm.edu	37	9	140115231	140115231	+	Missense_Mutation	SNP	G	G	A			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr9:140115231G>A	ENST00000392827.1	-	2	602	c.434C>T	c.(433-435)aCc>aTc	p.T145I	RNF208_ENST00000391553.1_Missense_Mutation_p.T145I			Q9H0X6	RN208_HUMAN	ring finger protein 208	145					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)		GTGCCCACAGGTGGGGCACTC	0.647																																																0													14	18	17					9																	140115231		2180	4291	6471	SO:0001583	missense	727800			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.434C>T	chr9.hg19:g.140115231G>A	ENSP00000376572:p.Thr145Ile		A2BFA0	Missense_Mutation	SNP	ENST00000392827.1	hg19	CCDS7037.2	.	.	.	.	.	.	.	.	.	.	G	12.78	2.040448	0.35989	.	.	ENSG00000212864	ENST00000392827;ENST00000391553	T;T	0.46063	0.88;0.88	4.01	4.01	0.46588	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.137415	0.47093	D	0.000241	T	0.13713	0.0332	N	0.00569	-1.365	0.53005	D	0.999961	P	0.50156	0.932	P	0.47470	0.548	T	0.36383	-0.9750	10	0.02654	T	1	-17.7848	8.7913	0.34852	0.1066:0.0:0.8934:0.0	.	145	Q9H0X6	RN208_HUMAN	I	145	ENSP00000376572:T145I;ENSP00000375397:T145I	ENSP00000375397:T145I	T	-	2	0	RNF208	139235052	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	8.150000	0.89634	2.057000	0.61298	0.491000	0.48974	ACC		0.647	RNF208-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254714.1	NM_031297		A	140115231	G	A	140115231	3	1	818	1	0	0	0	0	1	0	0	0	13481	1261	44	2	355	2	RNF208	9	140115231	Missense_Mutation	SNP	G	TCGA-Y8-A896-01A-11D-A35Z-10	3865552	140115231	1098200	61	49180											
CAMK1D	57118	hgsc.bcm.edu	37	10	12870792	12870792	+	Frame_Shift_Del	DEL	G	G	-			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr10:12870792delG	ENST00000378847.3	+	11	1401	c.1064delG	c.(1063-1065)agtfs	p.S355fs		NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	355	Ser-rich.				inflammatory response (GO:0006954)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis (GO:0050766)|positive regulation of respiratory burst (GO:0060267)|regulation of dendrite development (GO:0050773)|regulation of granulocyte chemotaxis (GO:0071622)	calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		ACGCTCTGTAGTTTCATTTCT	0.577																																																0													81	78	79					10																	12870792		2203	4300	6503	SO:0001589	frameshift_variant	57118			AF286366	CCDS7091.1, CCDS7092.1	10p13	2003-11-05			ENSG00000183049	ENSG00000183049			19341	protein-coding gene	gene with protein product		607957				11050006	Standard	XM_006717481		Approved	CKLiK	uc001ilo.3	Q8IU85	OTTHUMG00000017683	ENST00000378847.3:c.1064delG	chr10.hg19:g.12870792delG	ENSP00000368124:p.Ser355fs		B0YIY0|Q9HD31	Frame_Shift_Del	DEL	ENST00000378847.3	hg19	CCDS7091.1																																																																																				0.577	CAMK1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046820.1	NM_020397		-	12870792	G	-	12870792	7	5	818	1	0	1	0	1	0	0	0	0	2599	1029	36	0	1141	0	CAMK1D	10	12870792	Frame_Shift_Del	DEL	G	TCGA-Y8-A896-01A-11D-A35Z-10		12870792	122663955	62	49181											
BMS1	9790	hgsc.bcm.edu	37	10	43326332	43326332	+	Missense_Mutation	SNP	G	G	C			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr10:43326332G>C	ENST00000374518.5	+	23	3700	c.3637G>C	c.(3637-3639)Gct>Cct	p.A1213P	RNU6-885P_ENST00000516607.1_RNA	NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	1213					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						ACTGCTGGATGCTCTGAGTAC	0.512																																																0													33	31	32					10																	43326332		2203	4300	6503	SO:0001583	missense	9790			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.3637G>C	chr10.hg19:g.43326332G>C	ENSP00000363642:p.Ala1213Pro		Q5QPT5|Q86XJ9	Missense_Mutation	SNP	ENST00000374518.5	hg19	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.628175	0.66901	.	.	ENSG00000165733	ENST00000374518	T	0.27720	1.65	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.59797	0.2220	M	0.81682	2.555	0.54753	D	0.999981	D	0.76494	0.999	D	0.83275	0.996	T	0.62572	-0.6826	10	0.48119	T	0.1	.	18.6554	0.91452	0.0:0.0:1.0:0.0	.	1213	Q14692	BMS1_HUMAN	P	1213	ENSP00000363642:A1213P	ENSP00000363642:A1213P	A	+	1	0	BMS1	42646338	1.000000	0.71417	1.000000	0.80357	0.670000	0.39368	6.200000	0.72118	2.395000	0.81488	0.462000	0.41574	GCT		0.512	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753		C	43326332	G	C	43326332	3	2	818	1	0	0	0	0	1	0	0	0	1472	1319	46	4	3723	4	BMS1	10	43326332	Missense_Mutation	SNP	G	TCGA-Y8-A896-01A-11D-A35Z-10	30455540	43326332	92208415	63	49182											
TMEM26	219623	hgsc.bcm.edu	37	10	63188776	63188776	+	Silent	SNP	T	T	C			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr10:63188776T>C	ENST00000399298.3	-	4	881	c.513A>G	c.(511-513)cgA>cgG	p.R171R	TMEM26_ENST00000399293.1_Silent_p.R171R	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	171						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)					AGAGTTGATCTCGAGTGATCC	0.443																																																0													112	113	112					10																	63188776		1932	4132	6064	SO:0001819	synonymous_variant	219623			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.513A>G	chr10.hg19:g.63188776T>C			Q6ZVM0|Q8IVN9	Silent	SNP	ENST00000399298.3	hg19	CCDS41530.1																																																																																				0.443	TMEM26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359121.1	NM_178505		C	63188776	T	C	63188776	2	2	818	1	0	0	0	0	0	0	0	1	16156	1538	54	3		3	TMEM26	10	63188776	Silent	SNP	T	TCGA-Y8-A896-01A-11D-A35Z-10	19862444	63188776	72345971	64	49183											
JMJD1C	221037	hgsc.bcm.edu	37	10	64966402	64966402	+	Missense_Mutation	SNP	C	C	A			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr10:64966402C>A	ENST00000399262.2	-	10	5245	c.5027G>T	c.(5026-5028)aGg>aTg	p.R1676M	JMJD1C_ENST00000542921.1_Missense_Mutation_p.R1494M|JMJD1C_ENST00000399251.1_Missense_Mutation_p.R1457M|JMJD1C_ENST00000402544.1_Missense_Mutation_p.R1457M	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1676					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)					TTTGGCACTCCTGCTGAGAAC	0.348																																																0													141	125	130					10																	64966402		1829	4095	5924	SO:0001583	missense	221037			L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"thyroid hormone receptor interactor 8"	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.5027G>T	chr10.hg19:g.64966402C>A	ENSP00000382204:p.Arg1676Met		A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	hg19	CCDS41532.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.84|16.84	3.233815|3.233815	0.58886|0.58886	.|.	.|.	ENSG00000171988|ENSG00000171988	ENST00000327520|ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	.|T;T;T;T	.|0.61742	.|0.42;0.08;1.82;0.42	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.75744	.|0.3891	M|M	0.64997|0.64997	1.995|1.995	0.58432|0.58432	D|D	0.999992|0.999992	.|D;D;D	.|0.89917	.|1.0;1.0;0.999	.|D;D;D	.|0.83275	.|0.991;0.996;0.988	.|T	.|0.76669	.|-0.2874	.|10	.|0.87932	.|D	.|0	-12.9833|-12.9833	19.9283|19.9283	0.97112|0.97112	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1217;1676;1494	.|A6PW35;Q15652;A0T124	.|.;JHD2C_HUMAN;.	X|M	362|1676;1457;1457;1494	.|ENSP00000382204:R1676M;ENSP00000384990:R1457M;ENSP00000382195:R1457M;ENSP00000444682:R1494M	.|ENSP00000382195:R1457M	G|R	-|-	1|2	0|0	JMJD1C|JMJD1C	64636408|64636408	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.818000|7.818000	0.86416|0.86416	2.708000|2.708000	0.92522|0.92522	0.585000|0.585000	0.79938|0.79938	GGA|AGG		0.348	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		A	64966402	C	A	64966402	3	1	818	1	0	0	0	0	1	0	0	0	7952	681	24	4	2663	4	JMJD1C	10	64966402	Missense_Mutation	SNP	C	TCGA-Y8-A896-01A-11D-A35Z-10	1777626	64966402	70568345	65	49184											
IFIT1	3434	hgsc.bcm.edu	37	10	91162887	91162887	+	Silent	SNP	C	C	T	rs373034374		TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr10:91162887C>T	ENST00000371804.3	+	2	1022	c.855C>T	c.(853-855)gtC>gtT	p.V285V	IFIT1_ENST00000546318.1_Silent_p.V254V|LIPA_ENST00000371837.1_Intron	NM_001270927.1|NM_001548.4	NP_001257856.1|NP_001539.3	P09914	IFIT1_HUMAN	interferon-induced protein with tetratricopeptide repeats 1	285					cellular response to exogenous dsRNA (GO:0071360)|cellular response to type I interferon (GO:0071357)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|intracellular transport of viral protein in host cell (GO:0019060)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of helicase activity (GO:0051097)|negative regulation of protein binding (GO:0032091)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						CCACTTCTGTCTTACTGCATC	0.443																																																0													71	72	72					10																	91162887		2203	4300	6503	SO:0001819	synonymous_variant	3434			M24594	CCDS31243.1, CCDS59220.1	10q23.31	2014-05-22			ENSG00000185745	ENSG00000185745		"Tetratricopeptide (TTC) repeat domain containing"	5407	protein-coding gene	gene with protein product		147690		G10P1, IFI56, IFNAI1		1377167, 3360121	Standard	NM_001548		Approved	GARG-16	uc001kgi.4	P09914	OTTHUMG00000018712	ENST00000371804.3:c.855C>T	chr10.hg19:g.91162887C>T			B3KS50|D3DR31|Q5T7J1|Q96QM5	Silent	SNP	ENST00000371804.3	hg19	CCDS31243.1																																																																																				0.443	IFIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049302.1	NM_001548		T	91162887	C	T	91162887	2	4	818	1	0	0	0	0	0	0	0	1	7523	900	32	2		2	IFIT1	10	91162887	Silent	SNP	C	TCGA-Y8-A896-01A-11D-A35Z-10	26196485	91162887	44371860	66	49185											
TMEM20	159371	hgsc.bcm.edu	37	10	95660559	95660559	+	Missense_Mutation	SNP	G	G	A			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr10:95660559G>A	ENST00000427197.1	+	3	471	c.410G>A	c.(409-411)gGa>gAa	p.G137E	SLC35G1_ENST00000371408.3_Missense_Mutation_p.G136E	NM_001134658.1|NM_153226.2	NP_001128130.1|NP_694958.1	Q2M3R5	S35G1_HUMAN	solute carrier family 35, member G1	137	EamA 1.				calcium ion export from cell (GO:1990034)|cytosolic calcium ion homeostasis (GO:0051480)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											ATTCTCAGAGGAGTCCTTGGT	0.383																																																0													122	114	116					10																	95660559		2203	4299	6502	SO:0001583	missense	159371			AK091309	CCDS7432.1, CCDS44459.1	10q23.33	2013-05-22	2011-08-03	2011-08-03	ENSG00000176273	ENSG00000176273		"Solute carriers"	26607	protein-coding gene	gene with protein product			"transmembrane protein 20"	TMEM20		21569384	Standard	NM_153226		Approved	FLJ33990, C10orf60	uc001kjg.2	Q2M3R5	OTTHUMG00000018779	ENST00000427197.1:c.410G>A	chr10.hg19:g.95660559G>A	ENSP00000400932:p.Gly137Glu		Q86YG5|Q8NBA5	Missense_Mutation	SNP	ENST00000427197.1	hg19	CCDS44459.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.268246	0.80469	.	.	ENSG00000176273	ENST00000371408;ENST00000427197	T;T	0.59502	0.26;0.26	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.83575	0.5284	M	0.93375	3.41	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.997	D	0.86713	0.1937	10	0.87932	D	0	.	20.3812	0.98933	0.0:0.0:1.0:0.0	.	120;137;136	B7ZKP0;Q2M3R5;Q2M3R5-2	.;S35G1_HUMAN;.	E	136;137	ENSP00000360462:G136E;ENSP00000400932:G137E	ENSP00000360462:G136E	G	+	2	0	SLC35G1	95650549	1.000000	0.71417	0.977000	0.42913	0.924000	0.55760	7.540000	0.82074	2.821000	0.97095	0.650000	0.86243	GGA		0.383	SLC35G1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_153226		A	95660559	G	A	95660559	3	1	818	1	0	0	0	0	1	0	0	0	16127	1174	41	2	420	2	TMEM20	10	95660559	Missense_Mutation	SNP	G	TCGA-Y8-A896-01A-11D-A35Z-10	4497672	95660559	39874188	67	49186											
SORBS1	10580	hgsc.bcm.edu	37	10	97143753	97143753	+	Silent	SNP	T	T	C			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr10:97143753T>C	ENST00000361941.3	-	15	1553	c.1527A>G	c.(1525-1527)tcA>tcG	p.S509S	SORBS1_ENST00000371247.2_Silent_p.S509S|SORBS1_ENST00000371241.1_Silent_p.S299S|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000353505.5_Silent_p.S394S|SORBS1_ENST00000277982.5_Silent_p.S531S|SORBS1_ENST00000393949.1_Silent_p.S479S|SORBS1_ENST00000371249.2_Silent_p.S431S|SORBS1_ENST00000371227.4_Silent_p.S463S|SORBS1_ENST00000371246.2_Silent_p.S531S|SORBS1_ENST00000607232.1_Silent_p.S298S|SORBS1_ENST00000371245.3_Silent_p.S394S|SORBS1_ENST00000347291.4_Silent_p.S377S|SORBS1_ENST00000354106.3_Silent_p.S479S|SORBS1_ENST00000306402.6_Silent_p.S340S|SORBS1_ENST00000371239.1_Silent_p.S308S	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1											NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		TTTCTGAGCTTGACTTCAGTG	0.502																																																0													92	88	89					10																	97143753		2203	4300	6503	SO:0001819	synonymous_variant	10580			AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"c-Cbl-associated protein"	605264	"SH3-domain protein 5 (ponsin)"	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.1527A>G	chr10.hg19:g.97143753T>C				Silent	SNP	ENST00000361941.3	hg19	CCDS31255.1																																																																																				0.502	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049517.1			C	97143753	T	C	97143753	2	2	818	1	0	0	0	0	0	0	0	1	14933	1799	63	3		3	SORBS1	10	97143753	Silent	SNP	T	TCGA-Y8-A896-01A-11D-A35Z-10	1483194	97143753	38390994	68	49187											
GAL3ST3	89792	hgsc.bcm.edu	37	11	65810751	65810751	+	Missense_Mutation	SNP	C	C	T			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr11:65810751C>T	ENST00000312006.4	-	3	804	c.523G>A	c.(523-525)Gta>Ata	p.V175I	GAL3ST3_ENST00000527878.1_Missense_Mutation_p.V175I	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	175					monosaccharide metabolic process (GO:0005996)|oligosaccharide metabolic process (GO:0009311)|poly-N-acetyllactosamine metabolic process (GO:0030309)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|carbohydrate binding (GO:0030246)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)	p.V175I(1)		kidney(1)|lung(9)|ovary(2)|skin(2)	14						GCGTTGGGTACGCGCCGGAAG	0.662																																																1	Substitution - Missense(1)	ovary(1)											36	40	39					11																	65810751		2201	4292	6493	SO:0001583	missense	89792			AY026481	CCDS8128.1	11q13.1	2014-08-12			ENSG00000175229	ENSG00000175229		"Sulfotransferases, membrane-bound"	24144	protein-coding gene	gene with protein product		608234				11323440, 11356829	Standard	NM_033036		Approved	GAL3ST2	uc001ogw.3	Q96A11	OTTHUMG00000166667	ENST00000312006.4:c.523G>A	chr11.hg19:g.65810751C>T	ENSP00000308591:p.Val175Ile		Q14D05	Missense_Mutation	SNP	ENST00000312006.4	hg19	CCDS8128.1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.919606	0.73098	.	.	ENSG00000175229	ENST00000312006;ENST00000527878	T;T	0.15139	2.45;2.45	4.65	4.65	0.58169	.	0.000000	0.64402	D	0.000002	T	0.30916	0.0780	L	0.51422	1.61	0.49130	D	0.99975	D	0.71674	0.998	P	0.59171	0.853	T	0.01273	-1.1399	10	0.37606	T	0.19	-34.5923	15.4161	0.74970	0.0:1.0:0.0:0.0	.	175	Q96A11	G3ST3_HUMAN	I	175	ENSP00000308591:V175I;ENSP00000434829:V175I	ENSP00000308591:V175I	V	-	1	0	GAL3ST3	65567327	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.992000	0.63889	2.304000	0.77564	0.561000	0.74099	GTA		0.662	GAL3ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391052.1	NM_033036		T	65810751	C	T	65810751	3	4	818	1	0	0	0	0	1	0	0	0	6201	536	19	1	776	1	GAL3ST3	11	65810751	Missense_Mutation	SNP	C	TCGA-Y8-A896-01A-11D-A35Z-10		65810751	69195765	69	49188											
OR2AT4	341152	hgsc.bcm.edu	37	11	74800264	74800264	+	Silent	SNP	T	T	C			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr11:74800264T>C	ENST00000305159.3	-	1	535	c.495A>G	c.(493-495)gtA>gtG	p.V165V		NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT, member 4	165						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(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						AGGTCCTTACTACTGCTGGGA	0.572																																																0													101	94	96					11																	74800264		2200	4293	6493	SO:0001819	synonymous_variant	341152			BK004820	CCDS31639.1	11q13.4	2012-08-09			ENSG00000171561	ENSG00000171561		"GPCR / Class A : Olfactory receptors"	19620	protein-coding gene	gene with protein product							Standard	NM_001005285		Approved		uc010rro.2	A6NND4	OTTHUMG00000165370	ENST00000305159.3:c.495A>G	chr11.hg19:g.74800264T>C			B9EGZ8	Silent	SNP	ENST00000305159.3	hg19	CCDS31639.1																																																																																				0.572	OR2AT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383734.1	NM_001005285		C	74800264	T	C	74800264	2	2	818	1	0	0	0	0	0	0	0	1	10989	1509	53	3		3	OR2AT4	11	74800264	Silent	SNP	T	TCGA-Y8-A896-01A-11D-A35Z-10	8989513	74800264	60206252	70	49189											
ANKK1	255239	hgsc.bcm.edu	37	11	113270138	113270138	+	Missense_Mutation	SNP	C	C	T	rs533347208		TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr11:113270138C>T	ENST00000303941.3	+	8	1541	c.1447C>T	c.(1447-1449)Cgt>Tgt	p.R483C		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	483							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)		TCTGGTCTCCCGTCAGGCTGA	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		19582	0.0		0.0	False		,,,				2504	0.001															0													15	17	17					11																	113270138		2044	4191	6235	SO:0001583	missense	255239			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.1447C>T	chr11.hg19:g.113270138C>T	ENSP00000306678:p.Arg483Cys			Missense_Mutation	SNP	ENST00000303941.3	hg19	CCDS44734.1	.	.	.	.	.	.	.	.	.	.	C	9.382	1.073302	0.20147	.	.	ENSG00000170209	ENST00000303941	T	0.65732	-0.17	4.72	3.8	0.43715	Ankyrin repeat-containing domain (4);	0.098482	0.44285	D	0.000477	T	0.56558	0.1993	L	0.50993	1.605	0.50467	D	0.999877	B	0.26512	0.151	B	0.28385	0.089	T	0.58075	-0.7700	10	0.54805	T	0.06	-5.0248	12.429	0.55563	0.0:0.918:0.0:0.082	.	483	Q8NFD2	ANKK1_HUMAN	C	483	ENSP00000306678:R483C	ENSP00000306678:R483C	R	+	1	0	ANKK1	112775348	0.033000	0.19621	0.646000	0.29493	0.265000	0.26407	0.648000	0.24828	1.210000	0.43336	0.557000	0.71058	CGT		0.607	ANKK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395830.1	NM_178510		T	113270138	C	T	113270138	3	4	818	1	0	0	0	0	1	0	0	0	631	652	23	1	1477	1	ANKK1	11	113270138	Missense_Mutation	SNP	C	TCGA-Y8-A896-01A-11D-A35Z-10	38469874	113270138	21736378	71	49190											
UBE4A	9354	hgsc.bcm.edu	37	11	118250311	118250315	+	Frame_Shift_Del	DEL	CATGA	CATGA	-			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	CATGA	CATGA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr11:118250311_118250315delCATGA	ENST00000431736.2	+	11	1815_1819	c.1743_1747delCATGA	c.(1741-1749)gccatgacafs	p.MT582fs	UBE4A_ENST00000545354.1_Frame_Shift_Del_p.MT47fs|UBE4A_ENST00000252108.3_Frame_Shift_Del_p.MT575fs					ubiquitination factor E4A											autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		CCAAGACTGCCATGACAGAGCCACA	0.493																																																0																																										SO:0001589	frameshift_variant	9354			D50916	CCDS8396.1, CCDS55790.1	11q23.3	2013-01-28	2011-05-19					"U-box domain containing"	12499	protein-coding gene	gene with protein product		603753	"ubiquitination factor E4A (homologous to yeast UFD2)", "ubiquitination factor E4A (UFD2 homolog, yeast)"			10089879	Standard	NM_004788		Approved	UBOX2, UFD2, KIAA0126, E4	uc001psv.3	Q14139	OTTHUMG00000168100	ENST00000431736.2:c.1743_1747delCATGA	chr11.hg19:g.118250311_118250315delCATGA	ENSP00000387362:p.Met582fs			Frame_Shift_Del	DEL	ENST00000431736.2	hg19	CCDS8396.1																																																																																				0.493	UBE4A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398143.1	NM_004788		-	118250315	CATGA	-	118250311	7	5	818	1	0	1	0	1	0	0	0	0	16887	581	21	0	1781	0	UBE4A	11	118250311	Frame_Shift_Del	DEL	CATGA	TCGA-Y8-A896-01A-11D-A35Z-10	4980173	118250311	16756205	72	49191											
CLSTN3	9746	hgsc.bcm.edu	37	12	7293886	7293886	+	Missense_Mutation	SNP	A	A	C			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr12:7293886A>C	ENST00000266546.6	+	9	1822	c.1372A>C	c.(1372-1374)Aca>Cca	p.T458P	CLSTN3_ENST00000537408.1_Missense_Mutation_p.T470P	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	458					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)			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						CGAGTTCCCCACAGTCACACT	0.562											OREG0021650	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													358	263	295					12																	7293886		2203	4300	6503	SO:0001583	missense	9746			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.1372A>C	chr12.hg19:g.7293886A>C	ENSP00000266546:p.Thr458Pro	640	D3DUT6|O94831|Q2T9J5|Q5UE57	Missense_Mutation	SNP	ENST00000266546.6	hg19	CCDS8575.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.337391	0.81911	.	.	ENSG00000139182	ENST00000266546;ENST00000537408	T;T	0.76060	-0.99;-0.99	5.38	5.38	0.77491	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.053114	0.85682	D	0.000000	T	0.79764	0.4502	L	0.50333	1.59	0.50632	D	0.99988	D;P	0.59767	0.986;0.888	P;P	0.58928	0.848;0.817	T	0.77814	-0.2448	10	0.30854	T	0.27	-11.2766	15.395	0.74784	1.0:0.0:0.0:0.0	.	470;458	Q5UE57;Q9BQT9	.;CSTN3_HUMAN	P	458;470	ENSP00000266546:T458P;ENSP00000440679:T470P	ENSP00000266546:T458P	T	+	1	0	CLSTN3	7185153	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.596000	0.67570	2.033000	0.60031	0.374000	0.22700	ACA		0.562	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398560.2	NM_014718		C	7293886	A	C	7293886	3	2	818	1	0	0	0	0	1	0	0	0	3565	159	6	5	1406	5	CLSTN3	12	7293886	Missense_Mutation	SNP	A	TCGA-Y8-A896-01A-11D-A35Z-10		7293886	126558009	73	49192											
PUS7L	83448	hgsc.bcm.edu	37	12	44142290	44142290	+	Missense_Mutation	SNP	A	A	G			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr12:44142290A>G	ENST00000416848.2	-	3	1521	c.1033T>C	c.(1033-1035)Tat>Cat	p.Y345H	PUS7L_ENST00000431332.3_Missense_Mutation_p.Y32H|PUS7L_ENST00000344862.5_Missense_Mutation_p.Y345H|PUS7L_ENST00000551923.1_Missense_Mutation_p.Y345H|PUS7L_ENST00000553166.1_Missense_Mutation_p.Y345H	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	345					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)	p.Y345H(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		ATTGCTTGATAGGTGATGGCT	0.343																																																1	Substitution - Missense(1)	kidney(1)											140	144	143					12																	44142290		2203	4300	6503	SO:0001583	missense	83448			BX647494	CCDS8743.1, CCDS61104.1	12q12	2006-02-07				ENSG00000129317			25276	protein-coding gene	gene with protein product						11230166	Standard	NM_001098615		Approved	DKFZP434G1415	uc001rnr.5	Q9H0K6	OTTHUMG00000169423	ENST00000416848.2:c.1033T>C	chr12.hg19:g.44142290A>G	ENSP00000415899:p.Tyr345His		B3KUJ1|Q05CU0|Q6AHZ3|Q6NUP2	Missense_Mutation	SNP	ENST00000416848.2	hg19	CCDS8743.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.483340	0.84854	.	.	ENSG00000129317	ENST00000416848;ENST00000344862;ENST00000551923;ENST00000431332;ENST00000550784;ENST00000547156;ENST00000553166	T;T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98;0.98	4.79	4.79	0.61399	Pseudouridine synthase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.65037	0.2653	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.65138	-0.6241	10	0.23891	T	0.37	-21.9291	15.0286	0.71687	1.0:0.0:0.0:0.0	.	345	Q9H0K6	PUS7L_HUMAN	H	345;345;345;32;32;32;345	ENSP00000415899:Y345H;ENSP00000343081:Y345H;ENSP00000447706:Y345H;ENSP00000398497:Y32H;ENSP00000449222:Y32H;ENSP00000450341:Y32H;ENSP00000446865:Y345H	ENSP00000343081:Y345H	Y	-	1	0	PUS7L	42428557	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.003000	0.93577	2.068000	0.61886	0.460000	0.39030	TAT		0.343	PUS7L-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403931.1	NM_031292		G	44142290	A	G	44142290	3	3	818	1	0	0	0	0	1	0	0	0	12840	420	15	3	1100	3	PUS7L	12	44142290	Missense_Mutation	SNP	A	TCGA-Y8-A896-01A-11D-A35Z-10	36848404	44142290	89709605	74	49193											
ATP12A	479	hgsc.bcm.edu	37	13	25284611	25284611	+	Missense_Mutation	SNP	G	G	C			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr13:25284611G>C	ENST00000381946.3	+	20	2944	c.2777G>C	c.(2776-2778)aGg>aCg	p.R926T	ATP12A_ENST00000218548.6_Missense_Mutation_p.R932T			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	926					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)		AGGTACCAGAGGGAATACCTA	0.453																																					Pancreas(156;1582 1935 18898 22665 26498)											0													90	89	89					13																	25284611		2203	4300	6503	SO:0001583	missense	479			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.2777G>C	chr13.hg19:g.25284611G>C	ENSP00000371372:p.Arg926Thr		Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	hg19	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.095193	0.56075	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.88818	-2.43;-2.43	5.19	5.19	0.71726	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.96068	0.8719	H	0.94771	3.58	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.97076	0.9781	10	0.87932	D	0	.	16.5892	0.84760	0.0:0.0:1.0:0.0	.	932;926	P54707-2;P54707	.;AT12A_HUMAN	T	932;926	ENSP00000218548:R932T;ENSP00000371372:R926T	ENSP00000218548:R932T	R	+	2	0	ATP12A	24182611	1.000000	0.71417	0.966000	0.40874	0.025000	0.11179	9.393000	0.97256	2.565000	0.86533	0.655000	0.94253	AGG		0.453	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		C	25284611	G	C	25284611	3	2	818	1	0	0	0	0	1	0	0	0	1122	1000	35	4	2873	4	ATP12A	13	25284611	Missense_Mutation	SNP	G	TCGA-Y8-A896-01A-11D-A35Z-10		25284611	89885267	75	49194											
TSC22D1	8848	hgsc.bcm.edu	37	13	45148256	45148256	+	Missense_Mutation	SNP	G	G	A	rs370025988		TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr13:45148256G>A	ENST00000458659.2	-	1	2445	c.1955C>T	c.(1954-1956)cCt>cTt	p.P652L	TSC22D1_ENST00000501704.2_Intron|TSC22D1_ENST00000460842.1_5'Flank	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	652	Gln-rich.		P -> S (in dbSNP:rs9525983).		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)		CTCTGAAGCAGGATTTTGAGT	0.502																																																0								G	LEU/PRO	0,4406		0,0,2203	108	102	104		1955	3	0	13		104	1,8599		0,1,4299	no	missense	TSC22D1	NM_183422.3	98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	652/1074	45148256	1,13005	2203	4300	6503	SO:0001583	missense	8848			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.1955C>T	chr13.hg19:g.45148256G>A	ENSP00000397435:p.Pro652Leu		B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	Missense_Mutation	SNP	ENST00000458659.2	hg19	CCDS31966.1	.	.	.	.	.	.	.	.	.	.	G	6.215	0.407805	0.11754	0.0	1.16E-4	ENSG00000102804	ENST00000458659	T	0.33654	1.4	4.74	3.02	0.34903	.	0.346611	0.25065	N	0.033401	T	0.23926	0.0579	L	0.27053	0.805	0.23260	N	0.998024	B	0.06786	0.001	B	0.04013	0.001	T	0.15350	-1.0440	10	0.33940	T	0.23	.	9.9987	0.41916	0.1633:0.0:0.8367:0.0	.	652	Q15714	T22D1_HUMAN	L	652	ENSP00000397435:P652L	ENSP00000397435:P652L	P	-	2	0	TSC22D1	44046256	0.997000	0.39634	0.037000	0.18230	0.867000	0.49689	5.011000	0.64011	0.626000	0.30322	0.491000	0.48974	CCT		0.502	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044743.2	NM_006022		A	45148256	G	A	45148256	3	1	818	1	0	0	0	0	1	0	0	0	16612	1000	35	2	1407	2	TSC22D1	13	45148256	Missense_Mutation	SNP	G	TCGA-Y8-A896-01A-11D-A35Z-10	19863645	45148256	70021622	76	49195											
CDC16	8881	hgsc.bcm.edu	37	13	115008769	115008769	+	Silent	SNP	G	G	T			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr13:115008769G>T	ENST00000356221.3	+	7	687	c.579G>T	c.(577-579)ctG>ctT	p.L193L	CDC16_ENST00000375308.1_Silent_p.L99L|CDC16_ENST00000252457.5_Silent_p.L192L|MIR548AR_ENST00000582191.1_RNA|CDC16_ENST00000375312.3_Silent_p.L99L|CDC16_ENST00000375310.1_Silent_p.L99L|CDC16_ENST00000252458.6_Silent_p.L99L|CDC16_ENST00000360383.3_Silent_p.L193L			Q13042	CDC16_HUMAN	cell division cycle 16	193					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)			TTAGCAAGCTGTGTAATGAAG	0.308																																																0													77	82	81					13																	115008769		2203	4298	6501	SO:0001819	synonymous_variant	8881			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.579G>T	chr13.hg19:g.115008769G>T			A2A365|Q5T8C8|Q96AE6|Q9Y564	Silent	SNP	ENST00000356221.3	hg19	CCDS9542.2																																																																																				0.308	CDC16-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276737.1	NM_003903		T	115008769	G	T	115008769	2	4	818	1	0	0	0	0	0	0	0	1	3060	1364	48	4		4	CDC16	13	115008769	Silent	SNP	G	TCGA-Y8-A896-01A-11D-A35Z-10	69860513	115008769	161109	77	49196											
CHMP4A	29082	hgsc.bcm.edu	37	14	24682658	24682658	+	5'UTR	SNP	T	T	A			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr14:24682658T>A	ENST00000609024.1	-	0	36				MDP1_ENST00000532557.1_5'Flank|CHMP4A_ENST00000530996.1_5'UTR|TM9SF1_ENST00000530611.1_5'UTR|AL136419.6_ENST00000565988.1_RNA|NEDD8-MDP1_ENST00000604306.1_5'Flank|CHMP4A_ENST00000542700.2_5'Flank|TM9SF1_ENST00000556387.1_5'UTR|CHMP4A_ENST00000347519.6_Missense_Mutation_p.R39S			Q9BY43	CHM4A_HUMAN	charged multivesicular body protein 4A						endosomal transport (GO:0016197)|membrane budding (GO:0006900)|membrane organization (GO:0061024)|membrane tubulation (GO:0097320)|negative regulation of autophagic vacuole assembly (GO:1902902)|negative regulation of neuron death (GO:1901215)|posttranslational protein targeting to membrane (GO:0006620)|protein homooligomerization (GO:0051260)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|ESCRT III complex (GO:0000815)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)			NS(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9				GBM - Glioblastoma multiforme(265;0.0181)		CGAGCTCGCCTCTCCCGCCTC	0.667																																																0													45	42	43					14																	24682658		2203	4300	6503	SO:0001623	5_prime_UTR_variant	29082			AF212243	CCDS9619.1	14q12	2012-10-04	2011-09-21	2005-04-04	ENSG00000254505	ENSG00000254505		"Charged multivesicular body proteins"	20274	protein-coding gene	gene with protein product		610051	"chromosome 14 open reading frame 123", "chromatin modifying protein 4A"	C14orf123			Standard	NM_014169		Approved	HSPC134, VPS32A		Q9BY43	OTTHUMG00000167036	ENST00000609024.1:c.-13A>T	chr14.hg19:g.24682658T>A			Q14D22|Q32Q79|Q86SZ8|Q96QJ9|Q9P026	Missense_Mutation	SNP	ENST00000609024.1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.19|13.19	2.163255|2.163255	0.38217|0.38217	.|.	.|.	ENSG00000254505|ENSG00000254505	ENST00000347519|ENST00000548308	T|.	0.60171|.	0.21|.	4.72|4.72	2.17|2.17	0.27698|0.27698	.|.	.|.	.|.	.|.	.|.	T|T	0.18800|0.18800	0.0451|0.0451	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B|.	0.24186|.	0.099|.	B|.	0.17433|.	0.018|.	T|T	0.19745|0.19745	-1.0296|-1.0296	9|6	0.08599|0.66056	T|D	0.76|0.02	-4.2019|-4.2019	4.1034|4.1034	0.10025|0.10025	0.0:0.1223:0.2032:0.6745|0.0:0.1223:0.2032:0.6745	.|.	39|.	Q14D22|.	.|.	S|W	39|16	ENSP00000324205:R39S|.	ENSP00000324205:R39S|ENSP00000448488:R16W	R|R	-|-	3|1	2|2	AL096870.1|AL096870.1	23752498|23752498	0.004000|0.004000	0.15560|0.15560	0.043000|0.043000	0.18650|0.18650	0.292000|0.292000	0.27327|0.27327	-0.000000|-0.000000	0.12993|0.12993	0.257000|0.257000	0.21650|0.21650	0.533000|0.533000	0.62120|0.62120	AGA|AGG		0.667	CHMP4A-012	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471846.1	NM_014169		A	24682658	T	A	24682658	1	1	818	0	1	0	0	0	0	0	0	0	3358	1548	54	5		5	CHMP4A	14	24682658	5'UTR	SNP	T	TCGA-Y8-A896-01A-11D-A35Z-10		24682658	82666882	78	49197											
NID2	22795	hgsc.bcm.edu	37	14	52534874	52534874	+	Missense_Mutation	SNP	G	G	A			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr14:52534874G>A	ENST00000216286.5	-	2	235	c.236C>T	c.(235-237)aCc>aTc	p.T79I	NID2_ENST00000541773.1_Missense_Mutation_p.T26I	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	79					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)					GATGCCGTTGGTGCCCACCTG	0.582																																																0													44	56	52					14																	52534874		2203	4300	6503	SO:0001583	missense	22795			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.236C>T	chr14.hg19:g.52534874G>A	ENSP00000216286:p.Thr79Ile		A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	ENST00000216286.5	hg19	CCDS9706.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918213	0.73098	.	.	ENSG00000087303	ENST00000216286;ENST00000316204;ENST00000541773;ENST00000395707	T;T	0.26067	1.76;1.76	5.26	4.35	0.52113	.	0.044090	0.85682	D	0.000000	T	0.56470	0.1987	M	0.89840	3.065	0.38188	D	0.939836	D;D;D	0.64830	0.98;0.994;0.993	P;D;D	0.64595	0.837;0.919;0.927	T	0.70880	-0.4752	10	0.72032	D	0.01	.	15.0557	0.71912	0.0:0.0:0.8565:0.1435	.	26;81;79	Q14112-2;Q5CZI2;Q14112	.;.;NID2_HUMAN	I	79;79;26;81	ENSP00000216286:T79I;ENSP00000443730:T26I	ENSP00000216286:T79I	T	-	2	0	NID2	51604624	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	9.186000	0.94906	1.169000	0.42739	0.563000	0.77884	ACC		0.582	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			A	52534874	G	A	52534874	3	1	818	1	0	0	0	0	1	0	0	0	10417	1261	44	2	3975	2	NID2	14	52534874	Missense_Mutation	SNP	G	TCGA-Y8-A896-01A-11D-A35Z-10	27852216	52534874	54814666	79	49198											
NAA30	122830	hgsc.bcm.edu	37	14	57863579	57863579	+	Missense_Mutation	SNP	G	G	A			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr14:57863579G>A	ENST00000556492.1	+	3	1035	c.881G>A	c.(880-882)aGg>aAg	p.R294K	NAA30_ENST00000554703.1_Missense_Mutation_p.R36K|NAA30_ENST00000555166.1_Missense_Mutation_p.R36K	NM_001011713.2	NP_001011713.2	Q147X3	NAA30_HUMAN	N(alpha)-acetyltransferase 30, NatC catalytic subunit	294	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				metabolic process (GO:0008152)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)	peptide alpha-N-acetyltransferase activity (GO:0004596)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	13						TCCAAATACAGGAGAAATGGC	0.358																																																0													136	127	130					14																	57863579		2203	4300	6503	SO:0001583	missense	122830			AK092674	CCDS32088.1	14q22.2	2010-05-07	2010-01-14	2010-01-14		ENSG00000139977	2.3.1.88	"N(alpha)-acetyltransferase subunits"	19844	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 35", "N-acetyltransferase 12", "N-acetyltransferase 12 (GCN5-related, putative)"	C14orf35, NAT12		19660095	Standard	NM_001011713		Approved	FLJ35355, MAK3, Mak3p	uc001xcx.4	Q147X3		ENST00000556492.1:c.881G>A	chr14.hg19:g.57863579G>A	ENSP00000452521:p.Arg294Lys		Q0IIN2	Missense_Mutation	SNP	ENST00000556492.1	hg19	CCDS32088.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.542518|5.542518	0.96474|0.96474	.|.	.|.	ENSG00000139977|ENSG00000139977	ENST00000298406|ENST00000555166;ENST00000556492;ENST00000554703;ENST00000395257	.|T;T;T	.|0.37584	.|1.19;1.19;1.19	5.95|5.95	5.95|5.95	0.96441|0.96441	.|GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.67173|0.67173	0.2865|0.2865	M|M	0.85373|0.85373	2.75|2.75	0.80722|0.80722	D|D	1|1	.|D	.|0.60160	.|0.987	.|D	.|0.74348	.|0.983	T|T	0.70219|0.70219	-0.4932|-0.4932	5|10	.|0.87932	.|D	.|0	-9.037|-9.037	20.3931|20.3931	0.98965|0.98965	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|294	.|Q147X3	.|NAA30_HUMAN	R|K	106|36;294;36;257	.|ENSP00000450939:R36K;ENSP00000452521:R294K;ENSP00000451255:R36K	.|ENSP00000298406:R294K	G|R	+|+	1|2	0|0	NAA30|NAA30	56933332|56933332	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.600000|9.600000	0.98282|0.98282	2.824000|2.824000	0.97209|0.97209	0.655000|0.655000	0.94253|0.94253	GGA|AGG		0.358	NAA30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412925.1	NM_001011713		A	57863579	G	A	57863579	3	1	818	1	0	0	0	0	1	0	0	0	10124	1000	35	2	887	2	NAA30	14	57863579	Missense_Mutation	SNP	G	TCGA-Y8-A896-01A-11D-A35Z-10	5328705	57863579	49485961	80	49199											
PTPN21	11099	hgsc.bcm.edu	37	14	88935278	88935278	+	Silent	SNP	G	G	C			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr14:88935278G>C	ENST00000556564.1	-	18	3662	c.3378C>G	c.(3376-3378)gcC>gcG	p.A1126A	PTPN21_ENST00000328736.3_Silent_p.A1126A	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	1126	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GTTCCAGGCAGGCGATCATGA	0.532																																																0													115	99	105					14																	88935278		2203	4300	6503	SO:0001819	synonymous_variant	11099			X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.3378C>G	chr14.hg19:g.88935278G>C				Silent	SNP	ENST00000556564.1	hg19	CCDS9884.1																																																																																				0.532	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			C	88935278	G	C	88935278	2	2	818	1	0	0	0	0	0	0	0	1	12792	987	35	4		4	PTPN21	14	88935278	Silent	SNP	G	TCGA-Y8-A896-01A-11D-A35Z-10	31071699	88935278	18414262	81	49200											
ZNF839	55778	hgsc.bcm.edu	37	14	102800982	102800982	+	Splice_Site	SNP	A	A	C			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr14:102800982A>C	ENST00000558850.1	+	4	1510	c.1160A>C	c.(1159-1161)aAg>aCg	p.K387T	ZNF839_ENST00000442396.2_Splice_Site_p.K503T|ZNF839_ENST00000262236.5_Splice_Site_p.K387T|ZNF839_ENST00000559185.1_Splice_Site_p.K387T	NM_001267827.1	NP_001254756.1	A8K0R7	ZN839_HUMAN	zinc finger protein 839	387							metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CTTCTGATGAAGGTGAGTACT	0.398																																																0													126	116	119					14																	102800982		1913	4131	6044	SO:0001630	splice_region_variant	55778			AK093342	CCDS45164.1, CCDS58336.1	14q32.32	2010-05-06	2008-06-23	2008-06-23	ENSG00000022976	ENSG00000022976			20345	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 131"	C14orf131			Standard	NM_018335		Approved		uc010awk.2	A8K0R7		ENST00000558850.1:c.1161+1A>C	chr14.hg19:g.102800982A>C			B3KSD2|Q53FH5|Q6GPI5|Q86TU1|Q9BQ86|Q9NUU3	Missense_Mutation	SNP	ENST00000558850.1	hg19	CCDS58336.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.215665	0.79352	.	.	ENSG00000022976	ENST00000442396;ENST00000262236;ENST00000398436	T;T	0.37915	1.17;1.17	4.89	4.89	0.63831	.	0.506554	0.19538	N	0.111863	T	0.58906	0.2155	M	0.67397	2.05	0.40741	D	0.982836	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	0.63875	-0.6538	10	0.87932	D	0	.	14.8202	0.70068	1.0:0.0:0.0:0.0	.	503;387;266;387	A8K0R7-5;A8K0R7-2;Q9NT83;A8K0R7	.;.;.;ZN839_HUMAN	T	503;387;55	ENSP00000399863:K503T;ENSP00000262236:K387T	ENSP00000262236:K387T	K	+	2	0	ZNF839	101870735	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	5.967000	0.70403	1.967000	0.57214	0.459000	0.35465	AAG		0.398	ZNF839-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000415492.2	NM_018335	Missense_Mutation	C	102800982	A	C	102800982	5	2	818	1	0	0	0	0	0	0	1	0	18193	86	3	5	1522	5	ZNF839	14	102800982	Splice_Site	SNP	A	TCGA-Y8-A896-01A-11D-A35Z-10	13865704	102800982	4548558	82	49201											
RORA	6095	hgsc.bcm.edu	37	15	60797807	60797807	+	Missense_Mutation	SNP	G	G	A			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr15:60797807G>A	ENST00000335670.6	-	6	942	c.842C>T	c.(841-843)tCt>tTt	p.S281F	RP11-219B17.1_ENST00000558235.1_RNA|RP11-219B17.1_ENST00000558140.1_RNA|RP11-219B17.1_ENST00000559824.1_RNA|RORA_ENST00000449337.2_Missense_Mutation_p.S226F|RORA_ENST00000261523.5_Missense_Mutation_p.S314F|RORA_ENST00000309157.4_Missense_Mutation_p.S306F|RP11-219B17.1_ENST00000501579.2_RNA	NM_134261.2	NP_599023.1	P35398	RORA_HUMAN	RAR-related orphan receptor A	281	Ligand-binding.				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						ATGCGATTTAGATATATTCTG	0.373																																																0													123	127	126					15																	60797807		2203	4300	6503	SO:0001583	missense	6095			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.842C>T	chr15.hg19:g.60797807G>A	ENSP00000335087:p.Ser281Phe		P35397|P35399|P45445|Q495X4|Q96H83	Missense_Mutation	SNP	ENST00000335670.6	hg19	CCDS10177.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.853080	0.91355	.	.	ENSG00000069667	ENST00000335670;ENST00000449337;ENST00000309157;ENST00000261523	D;D;D;D	0.95001	-3.58;-3.58;-3.58;-3.58	5.78	5.78	0.91487	Nuclear hormone receptor, ligand-binding (2);	0.000000	0.85682	D	0.000000	D	0.94558	0.8247	L	0.29908	0.895	0.80722	D	1	D;D;D;P	0.58620	0.979;0.978;0.983;0.891	P;P;P;P	0.56916	0.809;0.809;0.648;0.707	D	0.93871	0.7162	10	0.44086	T	0.13	.	20.3668	0.98882	0.0:0.0:1.0:0.0	.	281;306;314;226	P35398-2;P35398-3;P35398;P35398-4	.;.;RORA_HUMAN;.	F	281;226;306;314	ENSP00000335087:S281F;ENSP00000402971:S226F;ENSP00000309753:S306F;ENSP00000261523:S314F	ENSP00000261523:S314F	S	-	2	0	RORA	58585099	1.000000	0.71417	0.993000	0.49108	0.985000	0.73830	6.688000	0.74557	2.894000	0.99253	0.655000	0.94253	TCT		0.373	RORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256142.2			A	60797807	G	A	60797807	3	1	818	1	0	0	0	0	1	0	0	0	13534	942	33	2	753	2	RORA	15	60797807	Missense_Mutation	SNP	G	TCGA-Y8-A896-01A-11D-A35Z-10		60797807	41733585	83	49202											
SALL1	6299	hgsc.bcm.edu	37	16	51173002	51173006	+	Frame_Shift_Del	DEL	AAATT	AAATT	-			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	AAATT	AAATT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr16:51173002_51173006delAAATT	ENST00000251020.4	-	2	3160_3164	c.3127_3131delAATTT	c.(3127-3132)aatttgfs	p.NL1043fs	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Frame_Shift_Del_p.NL946fs|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1043					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)			GTGCTGCTTCAAATTACCCTTTGTG	0.463																																					GBM(103;1352 1446 1855 4775 8890)											0																																										SO:0001589	frameshift_variant	6299			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.3127_3131delAATTT	chr16.hg19:g.51173002_51173006delAAATT	ENSP00000251020:p.Asn1043fs		Q99881|Q9NSC3|Q9P1R0	Frame_Shift_Del	DEL	ENST00000251020.4	hg19	CCDS10747.1																																																																																				0.463	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		-	51173006	AAATT	-	51173002	7	5	818	1	0	1	0	1	0	0	0	0	13816	131	5	0	851	0	SALL1	16	51173002	Frame_Shift_Del	DEL	AAATT	TCGA-Y8-A896-01A-11D-A35Z-10		51173002	39181751	84	49203											
PSMD7	5713	hgsc.bcm.edu	37	16	74335517	74335517	+	Missense_Mutation	SNP	C	C	G			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr16:74335517C>G	ENST00000219313.4	+	4	464	c.324C>G	c.(322-324)atC>atG	p.I108M	PSMD7_ENST00000540379.1_Missense_Mutation_p.I31M|PSMD7_ENST00000567958.1_Missense_Mutation_p.I108M|PSMD7_ENST00000568615.2_Missense_Mutation_p.I108M	NM_002811.4	NP_002802.2	P51665	PSMD7_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 7	108	MPN.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	protein homodimerization activity (GO:0042803)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	15						ACATTGCCATCAACGAACTCA	0.388																																																0													127	121	123					16																	74335517		2198	4300	6498	SO:0001583	missense	5713			D50063	CCDS10910.1	16q22.3	2010-10-15	2007-07-06		ENSG00000103035	ENSG00000103035		"Proteasome (prosome, macropain) subunits"	9565	protein-coding gene	gene with protein product	"Mov34 homolog"	157970	"proteasome (prosome, macropain) 26S subunit, non-ATPase, 7 (Mov34 homolog)"			7755639	Standard	NM_002811		Approved	S12, P40, MOV34, Rpn8	uc002fcq.3	P51665	OTTHUMG00000137601	ENST00000219313.4:c.324C>G	chr16.hg19:g.74335517C>G	ENSP00000219313:p.Ile108Met		D3DWS9|Q6PKI2|Q96E97	Missense_Mutation	SNP	ENST00000219313.4	hg19	CCDS10910.1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.514066	0.64522	.	.	ENSG00000103035	ENST00000219313;ENST00000540379	T;T	0.58060	0.36;0.36	5.71	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.80319	0.4601	H	0.97587	4.035	0.80722	D	1	D	0.71674	0.998	D	0.77004	0.989	D	0.84892	0.0837	10	0.87932	D	0	-19.7916	10.1812	0.42968	0.0:0.8438:0.0:0.1562	.	108	P51665	PSD7_HUMAN	M	108;31	ENSP00000219313:I108M;ENSP00000443925:I31M	ENSP00000219313:I108M	I	+	3	3	PSMD7	72893018	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.033000	0.41136	1.354000	0.45846	0.467000	0.42956	ATC		0.388	PSMD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269010.2	NM_002811		G	74335517	C	G	74335517	3	3	818	1	0	0	0	0	1	0	0	0	12708	816	29	4	338	4	PSMD7	16	74335517	Missense_Mutation	SNP	C	TCGA-Y8-A896-01A-11D-A35Z-10	23162515	74335517	16019236	85	49204											
KIAA0664	23277	hgsc.bcm.edu	37	17	2595757	2595757	+	Missense_Mutation	SNP	A	A	C			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr17:2595757A>C	ENST00000570628.2	-	22	3446	c.3341T>G	c.(3340-3342)cTg>cGg	p.L1114R	CLUH_ENST00000538975.1_Missense_Mutation_p.L1114R|CLUH_ENST00000435359.1_Missense_Mutation_p.L1114R			O75153	CLU_HUMAN	clustered mitochondria (cluA/CLU1) homolog	1114					intracellular distribution of mitochondria (GO:0048312)	cytoplasm (GO:0005737)											CACCCCGTGCAGCACCAGCCC	0.711																																																0													22	24	23					17																	2595757		1990	4162	6152	SO:0001583	missense	23277			AB014564	CCDS45572.1	17p13.3	2012-12-18	2012-11-30	2012-11-30	ENSG00000132361	ENSG00000132361			29094	protein-coding gene	gene with protein product			"KIAA0664"	KIAA0664			Standard	XM_005256567		Approved	CLU1	uc002fuy.1	O75153	OTTHUMG00000177575	ENST00000570628.2:c.3341T>G	chr17.hg19:g.2595757A>C	ENSP00000458986:p.Leu1114Arg		Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979	Missense_Mutation	SNP	ENST00000570628.2	hg19	CCDS45572.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.535700	0.85812	.	.	ENSG00000132361	ENST00000435359;ENST00000322335;ENST00000538975	D;D	0.95690	-3.78;-3.78	4.79	4.79	0.61399	Tetratricopeptide-like helical (1);	0.000000	0.64402	D	0.000001	D	0.97642	0.9227	M	0.85945	2.785	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98327	1.0531	10	0.72032	D	0.01	.	13.6522	0.62318	1.0:0.0:0.0:0.0	.	1114;1115	O75153;C9J6D7	K0664_HUMAN;.	R	1114;1115;1114	ENSP00000388872:L1114R;ENSP00000439628:L1114R	ENSP00000320468:L1115R	L	-	2	0	KIAA0664	2542507	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.139000	0.94554	2.017000	0.59298	0.459000	0.35465	CTG		0.711	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437807.2	NM_015229		C	2595757	A	C	2595757	3	2	818	1	0	0	0	0	1	0	0	0	8191	188	7	5	608	5	KIAA0664	17	2595757	Missense_Mutation	SNP	A	TCGA-Y8-A896-01A-11D-A35Z-10		2595757	78599453	86	49205											
PER1	5187	hgsc.bcm.edu	37	17	8049997	8049997	+	Missense_Mutation	SNP	G	G	T			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr17:8049997G>T	ENST00000317276.4	-	15	2059	c.1822C>A	c.(1822-1824)Cta>Ata	p.L608I	PER1_ENST00000354903.5_Missense_Mutation_p.L592I|PER1_ENST00000578089.1_5'Flank|PER1_ENST00000581082.1_Missense_Mutation_p.L588I	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	608	Required for phosphorylation by CSNK1E. {ECO:0000250}.				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						ACCAAGGCTAGTGGGGCCTGG	0.627			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes																															Dom	yes		17	17p13.1-17p12	5187	period homolog 1 (Drosophila)		L	0													41	44	43					17																	8049997		2203	4300	6503	SO:0001583	missense	5187			AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"period (Drosophila) homolog 1", "period homolog 1 (Drosophila)"	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.1822C>A	chr17.hg19:g.8049997G>T	ENSP00000314420:p.Leu608Ile		B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP	ENST00000317276.4	hg19	CCDS11131.1	.	.	.	.	.	.	.	.	.	.	G	7.390	0.630516	0.14322	.	.	ENSG00000179094	ENST00000317276;ENST00000354903	T;T	0.36340	2.64;1.26	5.16	-0.88	0.10610	.	0.701833	0.13793	N	0.362378	T	0.26048	0.0635	L	0.50333	1.59	0.09310	N	1	B;B	0.22480	0.003;0.07	B;B	0.18263	0.003;0.021	T	0.18967	-1.0320	10	0.28530	T	0.3	-0.3823	5.9627	0.19308	0.2405:0.255:0.5045:0.0	.	592;608	B4DI49;O15534	.;PER1_HUMAN	I	608;592	ENSP00000314420:L608I;ENSP00000346979:L592I	ENSP00000314420:L608I	L	-	1	2	PER1	7990722	0.000000	0.05858	0.000000	0.03702	0.392000	0.30506	-0.131000	0.10482	0.014000	0.14944	0.453000	0.30009	CTA		0.627	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2			T	8049997	G	T	8049997	3	4	818	1	0	0	0	0	1	0	0	0	11731	1020	36	4	2086	4	PER1	17	8049997	Missense_Mutation	SNP	G	TCGA-Y8-A896-01A-11D-A35Z-10	5454240	8049997	73145213	87	49206											
KRTAP17-1	83902	hgsc.bcm.edu	37	17	39471781	39471781	+	Missense_Mutation	SNP	G	G	C	rs62640394		TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr17:39471781G>C	ENST00000334202.3	-	1	166	c.122C>G	c.(121-123)tCt>tGt	p.S41C		NM_031964.1	NP_114170.1	Q9BYP8	KR171_HUMAN	keratin associated protein 17-1	41						intermediate filament (GO:0005882)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			cccgcagccagagcccccaca	0.687																																																0													10	13	12					17																	39471781		2171	4248	6419	SO:0001583	missense	83902			AJ406952	CCDS11387.1	17q21.2	2013-06-20			ENSG00000186860	ENSG00000186860		"Keratin associated proteins"	18917	protein-coding gene	gene with protein product							Standard	NM_031964		Approved	KAP17.1	uc002hwj.3	Q9BYP8	OTTHUMG00000133433	ENST00000334202.3:c.122C>G	chr17.hg19:g.39471781G>C	ENSP00000333993:p.Ser41Cys			Missense_Mutation	SNP	ENST00000334202.3	hg19	CCDS11387.1	.	.	.	.	.	.	.	.	.	.	G	1.949	-0.441645	0.04604	.	.	ENSG00000186860	ENST00000334202	.	.	.	4.26	-0.59	0.11679	.	.	.	.	.	T	0.20455	0.0492	N	0.02539	-0.55	0.09310	N	1	B	0.12013	0.005	B	0.10450	0.005	T	0.24548	-1.0157	8	0.87932	D	0	0.3694	13.4773	0.61316	0.0:0.6456:0.3544:0.0	rs62640394	41	Q9BYP8	KR171_HUMAN	C	41	.	ENSP00000333993:S41C	S	-	2	0	KRTAP17-1	36725307	0.000000	0.05858	0.000000	0.03702	0.315000	0.28087	-0.356000	0.07661	-0.221000	0.09973	0.462000	0.41574	TCT		0.687	KRTAP17-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257296.1			C	39471781	G	C	39471781	3	2	818	1	0	0	0	0	1	0	0	0	8529	942	33	4	199	4	KRTAP17-1	17	39471781	Missense_Mutation	SNP	G	TCGA-Y8-A896-01A-11D-A35Z-10	31421784	39471781	41723429	88	49207											
EPB41L3	23136	hgsc.bcm.edu	37	18	5397279	5397279	+	Silent	SNP	C	C	T			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr18:5397279C>T	ENST00000341928.2	-	18	2959	c.2619G>A	c.(2617-2619)tcG>tcA	p.S873S	EPB41L3_ENST00000427684.2_Silent_p.S170S|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000540638.2_Silent_p.S651S|EPB41L3_ENST00000400111.3_Silent_p.S651S|EPB41L3_ENST00000342933.3_Silent_p.S873S|EPB41L3_ENST00000544123.1_Silent_p.S704S|EPB41L3_ENST00000542146.1_Silent_p.S178S	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	873	C-terminal (CTD).				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TGTCTCCCGCCGAGTAAGAAG	0.627																																																0													73	67	69					18																	5397279		2203	4300	6503	SO:0001819	synonymous_variant	23136			AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2619G>A	chr18.hg19:g.5397279C>T			B7Z4I5|F5GX05|O95713|Q9BRP5	Silent	SNP	ENST00000341928.2	hg19	CCDS11838.1																																																																																				0.627	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		T	5397279	C	T	5397279	2	4	818	1	0	0	0	0	0	0	0	1	5156	639	23	1		1	EPB41L3	18	5397279	Silent	SNP	C	TCGA-Y8-A896-01A-11D-A35Z-10		5397279	72679969	89	49208											
KCTD1	284252	hgsc.bcm.edu	37	18	24056561	24056561	+	Missense_Mutation	SNP	A	A	G			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr18:24056561A>G	ENST00000408011.3	-	3	786	c.227T>C	c.(226-228)tTc>tCc	p.F76S	KCTD1_ENST00000579973.1_Missense_Mutation_p.F76S|KCTD1_ENST00000417602.1_Missense_Mutation_p.F684S|KCTD1_ENST00000580059.1_Missense_Mutation_p.F76S|KCTD1_ENST00000317932.7_Missense_Mutation_p.F76S	NM_001136205.2	NP_001129677.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1	76	BTB.				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)			TCTGTCAATGAAATAGTGCTG	0.383																																																0													110	93	99					18																	24056561		2203	4300	6503	SO:0001583	missense	284252			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.227T>C	chr18.hg19:g.24056561A>G	ENSP00000384367:p.Phe76Ser		A8K1F5	Missense_Mutation	SNP	ENST00000408011.3	hg19	CCDS11888.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.803009	0.90623	.	.	ENSG00000134504	ENST00000317932;ENST00000417602;ENST00000408011	D;D;D	0.84730	-1.89;-1.89;-1.89	5.78	5.78	0.91487	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.95500	0.8538	H	0.98199	4.17	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97229	0.9883	10	0.87932	D	0	.	16.1031	0.81201	1.0:0.0:0.0:0.0	.	76	Q719H9	KCTD1_HUMAN	S	76;684;76	ENSP00000314831:F76S;ENSP00000408405:F684S;ENSP00000384367:F76S	ENSP00000314831:F76S	F	-	2	0	KCTD1	22310559	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.860000	0.92272	2.197000	0.70478	0.528000	0.53228	TTC		0.383	KCTD1-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000446265.1	XM_209091		G	24056561	A	G	24056561	3	3	818	1	0	0	0	0	1	0	0	0	8098	246	9	3	558	3	KCTD1	18	24056561	Missense_Mutation	SNP	A	TCGA-Y8-A896-01A-11D-A35Z-10	18659282	24056561	54020687	90	49209											
ZNF24	7572	hgsc.bcm.edu	37	18	32920341	32920349	+	In_Frame_Del	DEL	AGATTTGTT	AGATTTGTT	-	rs570943082		TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	AGATTTGTT	AGATTTGTT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr18:32920341_32920349delAGATTTGTT	ENST00000261332.6	-	2	445_453	c.266_274delAACAAATCT	c.(265-276)gaacaaatcttg>gtg	p.89_92EQIL>V	ZNF24_ENST00000589881.1_In_Frame_Del_p.89_92EQIL>V|ZNF24_ENST00000399061.3_In_Frame_Del_p.89_92EQIL>V	NM_006965.2	NP_008896.2	P17028	ZNF24_HUMAN	zinc finger protein 24	89	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				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)			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	15						ACCAGCTCCAAGATTTGTTCTTTTGTGTG	0.541																																					Colon(42;769 913 8916 19469 46270)											0																																										SO:0001651	inframe_deletion	7572			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.266_274delAACAAATCT	chr18.hg19:g.32920341_32920349delAGATTTGTT	ENSP00000261332:p.Glu89_Leu92delinsVal		O14754|Q53YE4|Q6ICR5|Q8IZN4	In_Frame_Del	DEL	ENST00000261332.6	hg19	CCDS11912.1																																																																																				0.541	ZNF24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255769.1	NM_006965		-	32920349	AGATTTGTT	-	32920341	7	5	818	1	0	1	0	1	0	0	0	0	17797	69	3	0	844	0	ZNF24	18	32920341	In_Frame_Del	DEL	AGATTTGTT	TCGA-Y8-A896-01A-11D-A35Z-10	8863780	32920341	45156907	91	49210											
POLI	11201	hgsc.bcm.edu	37	18	51820257	51820257	+	Missense_Mutation	SNP	C	C	A			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr18:51820257C>A	ENST00000579534.1	+	10	1786	c.1643C>A	c.(1642-1644)tCt>tAt	p.S548Y	POLI_ENST00000579434.1_Missense_Mutation_p.S445Y|POLI_ENST00000217800.5_Missense_Mutation_p.S422Y|POLI_ENST00000406285.3_Missense_Mutation_p.S469Y	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	548					DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)	intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		TCTGGAAAATCTAGGGAAAAA	0.368								DNA polymerases (catalytic subunits)																																								0													30	31	31					18																	51820257		2203	4299	6502	SO:0001583	missense	11201				CCDS11954.2	18q21.1	2012-05-18			ENSG00000101751	ENSG00000101751		"DNA polymerases"	9182	protein-coding gene	gene with protein product		605252		RAD3OB, RAD30B		17609217	Standard	NM_007195		Approved		uc002lfj.4	Q9UNA4	OTTHUMG00000132704	ENST00000579534.1:c.1643C>A	chr18.hg19:g.51820257C>A	ENSP00000462664:p.Ser548Tyr		Q8N590|Q9H0S1|Q9NYH6	Missense_Mutation	SNP	ENST00000579534.1	hg19	CCDS11954.2	.	.	.	.	.	.	.	.	.	.	C	8.727	0.915756	0.17907	.	.	ENSG00000101751	ENST00000406285;ENST00000217800	T	0.50277	0.75	5.51	3.72	0.42706	.	0.614028	0.17190	N	0.183543	T	0.55768	0.1941	M	0.62723	1.935	0.36421	D	0.864307	D;D	0.67145	0.996;0.976	P;P	0.56700	0.804;0.726	T	0.61277	-0.7095	10	0.46703	T	0.11	-4.9843	8.2416	0.31662	0.0:0.6203:0.2987:0.081	.	468;548	B7Z780;Q9UNA4	.;POLI_HUMAN	Y	469;548	ENSP00000385196:S469Y	ENSP00000217800:S548Y	S	+	2	0	POLI	50074255	0.135000	0.22499	0.993000	0.49108	0.925000	0.55904	0.998000	0.29744	0.789000	0.33779	-0.176000	0.13171	TCT		0.368	POLI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256002.3	NM_007195		A	51820257	C	A	51820257	3	1	818	1	0	0	0	0	1	0	0	0	12205	913	32	4	1681	4	POLI	18	51820257	Missense_Mutation	SNP	C	TCGA-Y8-A896-01A-11D-A35Z-10	18899916	51820257	26256991	92	49211											
PDE4A	5141	hgsc.bcm.edu	37	19	10563954	10563954	+	Intron	DEL	T	T	-			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr19:10563954delT	ENST00000352831.6	+	7	893				PDE4A_ENST00000592685.1_Intron|PDE4A_ENST00000380702.2_Intron|PDE4A_ENST00000440014.2_Intron|PDE4A_ENST00000344979.3_Frame_Shift_Del_p.D5fs|PDE4A_ENST00000293683.5_Intron	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific						cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)	CCTTGGTGGATTTCTTCTGCG	0.647																																																0													62	47	52					19																	10563954		2203	4300	6503	SO:0001627	intron_variant	5141				CCDS12238.1, CCDS45961.1, CCDS45962.1, CCDS45963.1, CCDS58649.1	19p13.2	2010-06-24	2010-06-24			ENSG00000065989	3.1.4.17	"Phosphodiesterases"	8780	protein-coding gene	gene with protein product	"phosphodiesterase E2 dunce homolog (Drosophila)"	600126	"phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)"	DPDE2		8009369	Standard	NM_006202		Approved		uc002moj.2	P27815		ENST00000352831.6:c.784-1551T>-	chr19.hg19:g.10563954delT			O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	Frame_Shift_Del	DEL	ENST00000352831.6	hg19	CCDS45961.1																																																																																				0.647	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451244.1			-	10563954	T	-	10563954	6	5	818	0	1	1	0	1	0	0	0	0	11641	1490	52	0		0	PDE4A	19	10563954	Intron	DEL	T	TCGA-Y8-A896-01A-11D-A35Z-10		10563954	48565029	93	49212	528	3									
PDE4A	5141	hgsc.bcm.edu	37	19	10563955	10563957	+	Intron	DEL	TTC	TTC	-			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	TTC	TTC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr19:10563955_10563957delTTC	ENST00000352831.6	+	7	893				PDE4A_ENST00000592685.1_Intron|PDE4A_ENST00000380702.2_Intron|PDE4A_ENST00000440014.2_Intron|PDE4A_ENST00000344979.3_In_Frame_Del_p.F7del|PDE4A_ENST00000293683.5_Intron	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific						cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)	CTTGGTGGATTTCTTCTGCGAGA	0.65																																																0																																										SO:0001627	intron_variant	5141				CCDS12238.1, CCDS45961.1, CCDS45962.1, CCDS45963.1, CCDS58649.1	19p13.2	2010-06-24	2010-06-24			ENSG00000065989	3.1.4.17	"Phosphodiesterases"	8780	protein-coding gene	gene with protein product	"phosphodiesterase E2 dunce homolog (Drosophila)"	600126	"phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)"	DPDE2		8009369	Standard	NM_006202		Approved		uc002moj.2	P27815		ENST00000352831.6:c.784-1548TTC>-	chr19.hg19:g.10563958_10563960delTTC			O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	In_Frame_Del	DEL	ENST00000352831.6	hg19	CCDS45961.1																																																																																				0.65	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451244.1			-	10563957	TTC	-	10563955	6	5	818	0	1	1	0	1	0	0	0	0	11641	1841	64	0		0	PDE4A	19	10563955	Intron	DEL	TTC	TCGA-Y8-A896-01A-11D-A35Z-10	1	10563955	48565028	94	49213	528	3									
PDE4A	5141	hgsc.bcm.edu	37	19	10563956	10563957	+	Intron	DNP	TC	TC	AA			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	T|C	T|C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr19:10563956_10563957TC>AA	ENST00000352831.6	+	7	893				PDE4A_ENST00000592685.1_Intron|PDE4A_ENST00000380702.2_Intron|PDE4A_ENST00000440014.2_Intron|PDE4A_ENST00000344979.3_Nonsense_Mutation_p.F6*|PDE4A_ENST00000293683.5_Intron	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific						cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)	TTGGTGGATTTCTTCTGCGAGA	0.653																																																0																																										SO:0001627	intron_variant	5141				CCDS12238.1, CCDS45961.1, CCDS45962.1, CCDS45963.1, CCDS58649.1	19p13.2	2010-06-24	2010-06-24			ENSG00000065989	3.1.4.17	"Phosphodiesterases"	8780	protein-coding gene	gene with protein product	"phosphodiesterase E2 dunce homolog (Drosophila)"	600126	"phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)"	DPDE2		8009369	Standard	NM_006202		Approved		uc002moj.2	P27815		Exception_encountered	chr19.hg19:g.10563956_10563957delinsAA			O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	Missense_Mutation	SNP	ENST00000352831.6	hg19	CCDS45961.1																																																																																				0.653	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451244.1			AA	10563957	TC	AA	10563956	1	1	818	0	1	0	0	0	0	0	0	0	11641	1783	62	5		5	PDE4A	19	10563956	Intron	DNP	TC	TCGA-Y8-A896-01A-11D-A35Z-10	1	10563956	48565027	95	49214	528	3									
ELL	8178	hgsc.bcm.edu	37	19	18555598	18555598	+	Silent	SNP	G	G	A			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr19:18555598G>A	ENST00000262809.4	-	12	1901	c.1830C>T	c.(1828-1830)gcC>gcT	p.A610A	ELL_ENST00000596124.3_Silent_p.A477A|CTD-3137H5.1_ENST00000594590.2_RNA	NM_006532.3	NP_006523.1	P55199	ELL_HUMAN	elongation factor RNA polymerase II	610					gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of viral transcription (GO:0050434)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	phosphatase binding (GO:0019902)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		GGTCGTACTCGGCGATGAGCC	0.627			T	MLL	AL																																		Dom	yes		19	19p13.1	8178	ELL gene (11-19 lysine-rich leukemia gene)		L	0													103	85	91					19																	18555598		2203	4300	6503	SO:0001819	synonymous_variant	8178			U16282	CCDS12380.1	19p13.1	2012-04-17	2005-05-23			ENSG00000105656		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	23114	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 68"	600284	"chromosome 19 open reading frame 17"	C19orf17		7991593, 8596958	Standard	NM_006532		Approved	Men, ELL1, PPP1R68	uc002njh.3	P55199		ENST00000262809.4:c.1830C>T	chr19.hg19:g.18555598G>A				Silent	SNP	ENST00000262809.4	hg19	CCDS12380.1																																																																																				0.627	ELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466362.1	NM_006532		A	18555598	G	A	18555598	2	1	818	1	0	0	0	0	0	0	0	1	5064	1103	39	1		1	ELL	19	18555598	Silent	SNP	G	TCGA-Y8-A896-01A-11D-A35Z-10	7991642	18555598	40573385	96	49215											
PSG1	5669	hgsc.bcm.edu	37	19	43376066	43376066	+	Missense_Mutation	SNP	G	G	A	rs368581835		TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr19:43376066G>A	ENST00000436291.2	-	3	678	c.562C>T	c.(562-564)Cct>Tct	p.P188S	PSG1_ENST00000244296.2_Missense_Mutation_p.P188S|PSG1_ENST00000595356.1_Missense_Mutation_p.P188S|PSG1_ENST00000312439.6_Missense_Mutation_p.P188S|PSG1_ENST00000403380.3_Intron|PSG1_ENST00000595124.1_Intron	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	188	Ig-like C2-type 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)				TGAGTCATAGGGAGGCTCTGA	0.498																																																0								G	SER/PRO,SER/PRO,SER/PRO	1,4403		0,1,2201	281	273	276		562,562,562	1.5	0	19		276	0,8598		0,0,4299	no	missense,missense,missense	PSG1	NM_001184825.1,NM_001184826.1,NM_006905.2	74,74,74	0,1,6500	AA,AG,GG		0.0,0.0227,0.0077	,,	188/420,188/418,188/427	43376066	1,13001	2202	4299	6501	SO:0001583	missense	5669				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.562C>T	chr19.hg19:g.43376066G>A	ENSP00000413041:p.Pro188Ser		O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Missense_Mutation	SNP	ENST00000436291.2	hg19	CCDS54275.1	.	.	.	.	.	.	.	.	.	.	N	9.391	1.075520	0.20227	2.27E-4	0.0	ENSG00000231924	ENST00000436291;ENST00000312439;ENST00000244296	T;T;T	0.11169	2.8;2.8;2.8	1.46	1.46	0.22682	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.23330	0.0564	L	0.58354	1.805	0.09310	N	1	D;D;D;P;P;D;D;D	0.89917	1.0;1.0;0.999;0.533;0.738;0.992;0.994;1.0	D;D;D;B;P;D;D;D	0.87578	0.998;0.991;0.988;0.439;0.522;0.955;0.981;0.994	T	0.06373	-1.0830	9	0.39692	T	0.17	.	6.2767	0.20985	0.0:0.0:1.0:0.0	.	188;188;188;188;188;60;188;188	O75238;P11464-4;P11464;P11464-3;Q9UPK8;B4DTG5;O75237;P11464-2	.;.;PSG1_HUMAN;.;.;.;.;.	S	188	ENSP00000413041:P188S;ENSP00000308970:P188S;ENSP00000244296:P188S	ENSP00000244296:P188S	P	-	1	0	PSG1	48067906	0.003000	0.15002	0.003000	0.11579	0.013000	0.08279	0.913000	0.28611	0.782000	0.33613	0.184000	0.17185	CCT		0.498	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321426.1			A	43376066	G	A	43376066	3	1	818	1	0	0	0	0	1	0	0	0	12658	1232	43	2	766	2	PSG1	19	43376066	Missense_Mutation	SNP	G	TCGA-Y8-A896-01A-11D-A35Z-10	24820468	43376066	15752917	97	49216											
MBOAT7	79143	hgsc.bcm.edu	37	19	54684568	54684568	+	Missense_Mutation	SNP	G	G	A			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr19:54684568G>A	ENST00000245615.1	-	6	1256	c.776C>T	c.(775-777)gCc>gTc	p.A259V	MBOAT7_ENST00000338624.6_Missense_Mutation_p.A186V|MBOAT7_ENST00000431666.2_Missense_Mutation_p.A186V|MBOAT7_ENST00000391754.1_Missense_Mutation_p.A259V|MBOAT7_ENST00000474910.1_5'Flank	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	259					glycerophospholipid biosynthetic process (GO:0046474)|layer formation in cerebral cortex (GO:0021819)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|ventricular system development (GO:0021591)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipid acyltransferase activity (GO:0071617)			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCCAAAGCCGGCGGCAATGCA	0.716											OREG0003644	type=REGULATORY REGION|Gene=AK123290|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									NSCLC(97;826 2151 10470 22540)											0													9	11	10					19																	54684568		2158	4240	6398	SO:0001583	missense	79143			AF211969	CCDS12883.1, CCDS54315.1, CCDS54316.1	19q13.4	2008-12-15	2008-01-17	2008-01-17	ENSG00000125505	ENSG00000125505			15505	protein-coding gene	gene with protein product	"lysophosphatidylinositol acyltransferase"	606048	"leukocyte receptor cluster (LRC) member 4"	LENG4		10941842, 8702217, 18094042	Standard	NM_024298		Approved	BB1, hMBOA-7, LPIAT	uc002qdr.3	Q96N66	OTTHUMG00000066516	ENST00000245615.1:c.776C>T	chr19.hg19:g.54684568G>A	ENSP00000245615:p.Ala259Val	1002	A9C4B6|B0V3I5|B4DQ87|Q05DF0|Q7L5N2|Q99908|Q9BPV2|Q9BRE9	Missense_Mutation	SNP	ENST00000245615.1	hg19	CCDS12883.1	.	.	.	.	.	.	.	.	.	.	g	36	5.810866	0.96975	.	.	ENSG00000125505	ENST00000431666;ENST00000338624;ENST00000245615;ENST00000391754	T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66	4.59	4.59	0.56863	.	0.173558	0.50627	D	0.000116	T	0.80686	0.4670	M	0.77486	2.375	0.80722	D	1	P;D;P	0.61697	0.955;0.99;0.885	P;P;P	0.55011	0.763;0.766;0.666	D	0.83970	0.0326	10	0.62326	D	0.03	-10.7127	16.6251	0.84968	0.0:0.0:1.0:0.0	.	241;186;259	B4DDH8;Q96N66-2;Q96N66	.;.;MBOA7_HUMAN	V	186;186;259;259	ENSP00000410503:A186V;ENSP00000344377:A186V;ENSP00000245615:A259V;ENSP00000375634:A259V	ENSP00000245615:A259V	A	-	2	0	MBOAT7	59376380	1.000000	0.71417	0.983000	0.44433	0.997000	0.91878	8.293000	0.89932	2.296000	0.77279	0.546000	0.68486	GCC		0.716	MBOAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142203.1	NM_024298		A	54684568	G	A	54684568	3	1	818	1	0	0	0	0	1	0	0	0	9360	1203	42	2	658	2	MBOAT7	19	54684568	Missense_Mutation	SNP	G	TCGA-Y8-A896-01A-11D-A35Z-10	11308502	54684568	4444415	98	49217											
SGK2	10110	hgsc.bcm.edu	37	20	42198049	42198049	+	Missense_Mutation	SNP	A	A	G			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr20:42198049A>G	ENST00000341458.4	+	5	652	c.433A>G	c.(433-435)Agt>Ggt	p.S145G	SGK2_ENST00000373100.1_Missense_Mutation_p.S85G|SGK2_ENST00000423407.3_Missense_Mutation_p.S85G|SGK2_ENST00000373092.3_Missense_Mutation_p.S85G|SGK2_ENST00000373077.1_Missense_Mutation_p.S84G|SGK2_ENST00000426287.1_Missense_Mutation_p.S111G	NM_016276.3	NP_057360.2	Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	145	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|ion transmembrane transport (GO:0034220)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GGCAGAGCGCAGTGTGCTTCT	0.567																																																0													86	65	72					20																	42198049		2203	4300	6503	SO:0001583	missense	10110			AF169034	CCDS13320.1, CCDS13321.1	20q13.2	2008-07-04			ENSG00000101049	ENSG00000101049			13900	protein-coding gene	gene with protein product		607589				10548550	Standard	NM_016276		Approved		uc002xkv.3	Q9HBY8	OTTHUMG00000033054	ENST00000341458.4:c.433A>G	chr20.hg19:g.42198049A>G	ENSP00000340608:p.Ser145Gly		Q52PK5|Q5H8Y6|Q5H8Z1|Q5TZR3|Q9UKG6	Missense_Mutation	SNP	ENST00000341458.4	hg19	CCDS13320.1	.	.	.	.	.	.	.	.	.	.	A	17.13	3.311220	0.60414	.	.	ENSG00000101049	ENST00000373100;ENST00000373092;ENST00000373077;ENST00000412111;ENST00000423407;ENST00000341458;ENST00000426287	T;T;T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21	4.24	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);	0.191710	0.56097	D	0.000040	T	0.63379	0.2506	L	0.41492	1.28	0.36156	D	0.847752	B;B;B	0.25809	0.135;0.117;0.013	B;B;B	0.37601	0.107;0.254;0.062	T	0.71227	-0.4655	10	0.59425	D	0.04	.	13.0383	0.58885	1.0:0.0:0.0:0.0	.	111;145;85	Q9HBY8-3;Q9HBY8;Q9HBY8-2	.;SGK2_HUMAN;.	G	85;85;84;84;85;145;111	ENSP00000362192:S85G;ENSP00000362184:S85G;ENSP00000362168:S84G;ENSP00000396222:S84G;ENSP00000392795:S85G;ENSP00000340608:S145G;ENSP00000412214:S111G	ENSP00000340608:S145G	S	+	1	0	SGK2	41631463	1.000000	0.71417	0.901000	0.35422	0.822000	0.46500	9.255000	0.95524	1.873000	0.54277	0.454000	0.30748	AGT		0.567	SGK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080383.1			G	42198049	A	G	42198049	3	3	818	1	0	0	0	0	1	0	0	0	14215	188	7	3	451	3	SGK2	20	42198049	Missense_Mutation	SNP	A	TCGA-Y8-A896-01A-11D-A35Z-10		42198049	20827471	99	49218											
SGK2	10110	hgsc.bcm.edu	37	20	42199282	42199282	+	Missense_Mutation	SNP	G	G	A	rs559824768		TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr20:42199282G>A	ENST00000341458.4	+	6	785	c.566G>A	c.(565-567)cGc>cAc	p.R189H	SGK2_ENST00000373100.1_Missense_Mutation_p.R129H|SGK2_ENST00000485914.1_3'UTR|SGK2_ENST00000423407.3_Missense_Mutation_p.R129H|SGK2_ENST00000373092.3_Missense_Mutation_p.R129H|SGK2_ENST00000373077.1_Missense_Mutation_p.R128H|SGK2_ENST00000426287.1_Missense_Mutation_p.R155H	NM_016276.3	NP_057360.2	Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	189	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|ion transmembrane transport (GO:0034220)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)	p.R189H(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CAGCGGGAGCGCCGGTTCCTG	0.637																																																2	Substitution - Missense(2)	lung(2)											61	62	62					20																	42199282		2203	4300	6503	SO:0001583	missense	10110			AF169034	CCDS13320.1, CCDS13321.1	20q13.2	2008-07-04			ENSG00000101049	ENSG00000101049			13900	protein-coding gene	gene with protein product		607589				10548550	Standard	NM_016276		Approved		uc002xkv.3	Q9HBY8	OTTHUMG00000033054	ENST00000341458.4:c.566G>A	chr20.hg19:g.42199282G>A	ENSP00000340608:p.Arg189His		Q52PK5|Q5H8Y6|Q5H8Z1|Q5TZR3|Q9UKG6	Missense_Mutation	SNP	ENST00000341458.4	hg19	CCDS13320.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.656820	0.67586	.	.	ENSG00000101049	ENST00000373100;ENST00000373092;ENST00000373077;ENST00000412111;ENST00000423407;ENST00000341458;ENST00000426287	T;T;T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79;1.79;1.79	4.77	2.75	0.32379	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.148295	0.64402	N	0.000014	T	0.21267	0.0512	L	0.52905	1.665	0.58432	D	0.999999	B;P;B	0.35872	0.424;0.525;0.167	B;B;B	0.28465	0.032;0.09;0.038	T	0.04373	-1.0956	10	0.51188	T	0.08	.	10.9474	0.47308	0.163:0.0:0.837:0.0	.	155;189;129	Q9HBY8-3;Q9HBY8;Q9HBY8-2	.;SGK2_HUMAN;.	H	129;129;128;128;129;189;155	ENSP00000362192:R129H;ENSP00000362184:R129H;ENSP00000362168:R128H;ENSP00000396222:R128H;ENSP00000392795:R129H;ENSP00000340608:R189H;ENSP00000412214:R155H	ENSP00000340608:R189H	R	+	2	0	SGK2	41632696	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.835000	0.48175	0.660000	0.30964	0.655000	0.94253	CGC		0.637	SGK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080383.1			A	42199282	G	A	42199282	3	1	818	1	0	0	0	0	1	0	0	0	14215	1087	38	1	588	1	SGK2	20	42199282	Missense_Mutation	SNP	G	TCGA-Y8-A896-01A-11D-A35Z-10	1233	42199282	20826238	100	49219											
SLC2A4RG	56731	hgsc.bcm.edu	37	20	62373951	62373951	+	Missense_Mutation	SNP	A	A	T			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr20:62373951A>T	ENST00000266077.2	+	6	995	c.943A>T	c.(943-945)Agt>Tgt	p.S315C	RP4-583P15.10_ENST00000447343.2_RNA|RP4-583P15.10_ENST00000433905.2_RNA|SLC2A4RG_ENST00000493772.1_3'UTR	NM_020062.3	NP_064446.2	Q9NR83	S2A4R_HUMAN	SLC2A4 regulator	315					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)|kidney(1)|lung(2)|prostate(2)|skin(1)	7	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					GTCCTGTCACAGTGACCGTGT	0.706																																																0													8	10	9					20																	62373951		1947	3998	5945	SO:0001583	missense	56731			AF249267	CCDS13537.1	20q13.33	2010-03-11			ENSG00000125520	ENSG00000125520			15930	protein-coding gene	gene with protein product	"GLUT4 enhancer factor", "Huntington's disease gene regulatory region-binding protein 1"	609493				10825161	Standard	NM_020062		Approved	GEF, HDBP1, Si-1-2, Si-1-2-19	uc002ygq.3	Q9NR83	OTTHUMG00000032997	ENST00000266077.2:c.943A>T	chr20.hg19:g.62373951A>T	ENSP00000266077:p.Ser315Cys		Q2PHL5|Q6F6I6|Q6F6I7|Q6GTK5|Q8TAH5|Q8WVW7|Q96QD3|Q9BV85	Missense_Mutation	SNP	ENST00000266077.2	hg19	CCDS13537.1	.	.	.	.	.	.	.	.	.	.	A	18.77	3.694866	0.68386	.	.	ENSG00000125520	ENST00000266077	T	0.50277	0.75	3.92	-1.6	0.08426	.	1.162140	0.06883	U	0.802854	T	0.50309	0.1608	L	0.55481	1.735	0.25308	N	0.989226	D	0.69078	0.997	P	0.57468	0.821	T	0.38650	-0.9651	10	0.54805	T	0.06	-35.2735	0.6983	0.00903	0.4697:0.1693:0.1973:0.1637	.	315	Q9NR83	S2A4R_HUMAN	C	315	ENSP00000266077:S315C	ENSP00000266077:S315C	S	+	1	0	SLC2A4RG	61844395	0.018000	0.18449	0.010000	0.14722	0.278000	0.26855	1.400000	0.34577	-0.793000	0.04475	0.260000	0.18958	AGT		0.706	SLC2A4RG-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080202.1	NM_020062		T	62373951	A	T	62373951	3	4	818	1	0	0	0	0	1	0	0	0	14553	188	7	5	965	5	SLC2A4RG	20	62373951	Missense_Mutation	SNP	A	TCGA-Y8-A896-01A-11D-A35Z-10	20174669	62373951	651569	101	49220											
MYT1	4661	hgsc.bcm.edu	37	20	62851316	62851316	+	Missense_Mutation	SNP	G	G	A			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr20:62851316G>A	ENST00000328439.1	+	13	2586	c.2222G>A	c.(2221-2223)aGa>aAa	p.R741K	MYT1_ENST00000360149.4_Missense_Mutation_p.R443K|MYT1_ENST00000536311.1_Missense_Mutation_p.R768K	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)					AGCCGCCTGAGAGAGGAGGAA	0.662																																					GBM(59;481 1041 20555 21139 33705)											0													13	12	12					20																	62851316		2088	4125	6213	SO:0001583	missense	4661			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.2222G>A	chr20.hg19:g.62851316G>A	ENSP00000327465:p.Arg741Lys		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000328439.1	hg19	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	G	14.42	2.528721	0.44969	.	.	ENSG00000196132	ENST00000360149;ENST00000328439;ENST00000536311	T;T;T	0.42131	0.98;4.41;4.41	5.49	5.49	0.81192	Myelin transcription factor 1 (1);	0.137517	0.48767	D	0.000168	T	0.37945	0.1022	L	0.34521	1.04	0.44843	D	0.997853	B;B;B	0.32781	0.384;0.085;0.061	B;B;B	0.36534	0.227;0.086;0.047	T	0.09443	-1.0674	10	0.19147	T	0.46	-10.7664	19.3807	0.94532	0.0:0.0:1.0:0.0	.	768;741;443	F5H7M8;Q01538;Q6P6D5	.;MYT1_HUMAN;.	K	443;741;768	ENSP00000353269:R443K;ENSP00000327465:R741K;ENSP00000442412:R768K	ENSP00000327465:R741K	R	+	2	0	MYT1	62321760	1.000000	0.71417	0.112000	0.21494	0.991000	0.79684	4.913000	0.63341	2.575000	0.86900	0.561000	0.74099	AGA		0.662	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		A	62851316	G	A	62851316	3	1	818	1	0	0	0	0	1	0	0	0	10108	942	33	2	2264	2	MYT1	20	62851316	Missense_Mutation	SNP	G	TCGA-Y8-A896-01A-11D-A35Z-10	477365	62851316	174204	102	49221											
UMODL1	89766	hgsc.bcm.edu	37	21	43529755	43529755	+	Nonsense_Mutation	SNP	C	C	T			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr21:43529755C>T	ENST00000408910.2	+	10	1603	c.1603C>T	c.(1603-1605)Cag>Tag	p.Q535*	C21orf128_ENST00000329015.2_5'Flank|UMODL1_ENST00000400424.2_Nonsense_Mutation_p.Q463*|UMODL1_ENST00000408989.2_Nonsense_Mutation_p.Q535*|UMODL1_ENST00000400427.1_Nonsense_Mutation_p.Q463*	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	535	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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						CTACACCTGCCAGTGCCGTAC	0.692																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)											0													44	56	52					21																	43529755		2037	4156	6193	SO:0001587	stop_gained	89766				CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"olfactorin"	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.1603C>T	chr21.hg19:g.43529755C>T	ENSP00000386147:p.Gln535*		C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Nonsense_Mutation	SNP	ENST00000408910.2	hg19	CCDS42936.1	.	.	.	.	.	.	.	.	.	.	C	37	6.085419	0.97271	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910	.	.	.	3.23	2.32	0.28847	.	0.203527	0.22116	N	0.064402	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-8.5657	8.3767	0.32447	0.0:0.758:0.242:0.0	.	.	.	.	X	463;463;535;535	.	ENSP00000383276:Q463X	Q	+	1	0	UMODL1	42402824	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	1.215000	0.32431	0.919000	0.36945	0.655000	0.94253	CAG		0.692	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			T	43529755	C	T	43529755	4	4	818	1	0	0	0	0	0	1	0	0	16985	595	21	2	1641	2	UMODL1	21	43529755	Nonsense_Mutation	SNP	C	TCGA-Y8-A896-01A-11D-A35Z-10		43529755	4600140	103	49222											
NF2	4771	hgsc.bcm.edu	37	22	30060995	30060996	+	Frame_Shift_Ins	INS	-	-	GG	rs549225513		TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr22:30060995_30060996insGG	ENST00000338641.4	+	9	1268_1269	c.827_828insGG	c.(826-831)ctggatfs	p.D277fs	NF2_ENST00000361166.4_Frame_Shift_Ins_p.D277fs|NF2_ENST00000334961.7_Frame_Shift_Ins_p.D194fs|NF2_ENST00000361452.4_Frame_Shift_Ins_p.D236fs|NF2_ENST00000347330.5_Frame_Shift_Ins_p.D118fs|NF2_ENST00000403435.1_Frame_Shift_Ins_p.D277fs|NF2_ENST00000353887.4_Frame_Shift_Ins_p.D194fs|NF2_ENST00000413209.2_Intron|NF2_ENST00000361676.4_Frame_Shift_Ins_p.D235fs|NF2_ENST00000397789.3_Frame_Shift_Ins_p.D277fs|NF2_ENST00000403999.3_Frame_Shift_Ins_p.D277fs	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	277	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.?(3)|p.F271_L295del(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						ATTAAACCACTGGATAAGAAAA	0.386			"D, Mis, N, F, S, O"		"meningioma, acoustic neuroma, renal "	"meningioma, acoustic neuroma"			Neurofibromatosis, type 2																													yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	neurofibromatosis type 2 gene		O	4	Unknown(3)|Deletion - In frame(1)	central_nervous_system(2)|large_intestine(1)|stomach(1)																																								SO:0001589	frameshift_variant	4771	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"A-kinase anchor proteins"	7773	protein-coding gene	gene with protein product	"moesin-ezrin-radixin like", "schwannomin"	607379	"neurofibromin 2 (bilateral acoustic neuroma)"			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.828_829dupGG	chr22.hg19:g.30060996_30060997dupGG	ENSP00000344666:p.Asp277fs		O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Frame_Shift_Ins	INS	ENST00000338641.4	hg19	CCDS13861.1																																																																																				0.386	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075615.3	NM_000268		GG	30060996	-	GG	30060995	7	5	818	1	0	1	1	0	0	0	0	0	10359	1580	55	0	861	0	NF2	22	30060995	Frame_Shift_Ins	INS	-	TCGA-Y8-A896-01A-11D-A35Z-10		30060995	21243571	104	49223											
NCF4	4689	hgsc.bcm.edu	37	22	37266586	37266587	+	Splice_Site	DEL	TA	TA	-			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	TA	TA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chr22:37266586_37266587delTA	ENST00000248899.6	+	5	654		c.e5+2		CTA-833B7.2_ENST00000431290.1_RNA|CTA-833B7.2_ENST00000330602.2_RNA|NCF4_ENST00000397147.4_Splice_Site	NM_000631.4	NP_000622.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa						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)	CCGGAAAGTGTAAGTGACCAGC	0.589																																																0																																										SO:0001630	splice_region_variant	4689			X77094	CCDS13934.1, CCDS13935.1	22q13.1	2014-09-17	2002-08-29		ENSG00000100365	ENSG00000100365			7662	protein-coding gene	gene with protein product	"neutrophil NADPH oxidase factor 4"	601488	"neutrophil cytosolic factor 4 (40kD)"			8839867	Standard	NM_013416		Approved	p40phox, SH3PXD4	uc003apy.4	Q15080	OTTHUMG00000150548	ENST00000248899.6:c.470+2TA>-	chr22.hg19:g.37266586_37266587delTA			A8K4F9|O60808|Q86U56|Q9BU98|Q9NP45	Splice_Site	DEL	ENST00000248899.6	hg19	CCDS13934.1																																																																																				0.589	NCF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318863.1	NM_000631	Intron	-	37266587	TA	-	37266586	8	5	818	1	0	1	0	1	0	0	1	0	10220	1652	57	0	490	0	NCF4	22	37266586	Splice_Site	DEL	TA	TCGA-Y8-A896-01A-11D-A35Z-10	7205591	37266586	14037980	105	49224											
OGT	8473	hgsc.bcm.edu	37	X	70756180	70756180	+	Missense_Mutation	SNP	A	A	C			TCGA-Y8-A896-01A-11D-A35Z-10	TCGA-Y8-A896-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1d456468-7272-4470-892b-437ed167c716	35a2ebd1-9aa7-4978-92e8-f2b148b69622	g.chrX:70756180A>C	ENST00000373719.3	+	2	407	c.190A>C	c.(190-192)Ata>Cta	p.I64L	OGT_ENST00000373701.3_Missense_Mutation_p.I54L|OGT_ENST00000498566.1_3'UTR	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	64					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)					ACTTTCATCTATACACTTCCA	0.463																																																0													98	70	79					X																	70756180		2203	4300	6503	SO:0001583	missense	8473			U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"Tetratricopeptide (TTC) repeat domain containing"	8127	protein-coding gene	gene with protein product	"UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"	300255	"O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.190A>C	chrX.hg19:g.70756180A>C	ENSP00000362824:p.Ile64Leu		Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Missense_Mutation	SNP	ENST00000373719.3	hg19	CCDS14414.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.502221	0.85176	.	.	ENSG00000147162	ENST00000373719;ENST00000373701;ENST00000444774	T;T;T	0.72167	0.47;-0.63;1.22	5.22	5.22	0.72569	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.82623	0.5077	M	0.71206	2.165	0.80722	D	1	B;P;B	0.41748	0.0;0.761;0.001	B;D;B	0.68483	0.0;0.958;0.025	T	0.80195	-0.1483	10	0.27785	T	0.31	-7.2745	14.2165	0.65797	1.0:0.0:0.0:0.0	.	64;54;64	B4DTL6;O15294-3;O15294	.;.;OGT1_HUMAN	L	64;54;47	ENSP00000362824:I64L;ENSP00000362805:I54L;ENSP00000399729:I47L	ENSP00000362805:I54L	I	+	1	0	OGT	70672905	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.929000	0.92859	1.932000	0.55993	0.430000	0.28490	ATA		0.463	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000081829.3	NM_003605, NM_181672		C	70756180	A	C	70756180	3	2	818	1	0	0	0	0	1	0	0	0	10849	449	16	5	196	5	OGT	23	70756180	Missense_Mutation	SNP	A	TCGA-Y8-A896-01A-11D-A35Z-10		70756180	84514380	106	49225											
EXTL1	2134	hgsc.bcm.edu	37	1	26358007	26358007	+	Frame_Shift_Del	DEL	C	C	-			TCGA-Y8-A897-01A-11D-A35Z-10	TCGA-Y8-A897-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a18fd0a9-7914-410c-8f2f-0b8c86803b88	56e7a4a9-632d-45d1-a1b1-f3ed4e689c9e	g.chr1:26358007delC	ENST00000374280.3	+	6	2158	c.1291delC	c.(1291-1293)cccfs	p.P432fs	EXTL1_ENST00000484339.1_3'UTR	NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	432					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)		CCCAGGCCAGCCCCCTCTGAA	0.662																																																0													12	15	14					1																	26358007		2197	4291	6488	SO:0001589	frameshift_variant	2134			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.1291delC	chr1.hg19:g.26358007delC	ENSP00000363398:p.Pro432fs		Q6GSC1	Frame_Shift_Del	DEL	ENST00000374280.3	hg19	CCDS271.1																																																																																				0.662	EXTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019749.1	NM_004455		-	26358007	C	-	26358007	7	5	819	1	0	1	0	1	0	0	0	0	5327	739	26	0	1313	0	EXTL1	1	26358007	Frame_Shift_Del	DEL	C	TCGA-Y8-A897-01A-11D-A35Z-10		26358007	222892614	1	49226											
AKR1A1	10327	hgsc.bcm.edu	37	1	46034873	46034873	+	Missense_Mutation	SNP	A	A	G			TCGA-Y8-A897-01A-11D-A35Z-10	TCGA-Y8-A897-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a18fd0a9-7914-410c-8f2f-0b8c86803b88	56e7a4a9-632d-45d1-a1b1-f3ed4e689c9e	g.chr1:46034873A>G	ENST00000372070.3	+	9	1631	c.884A>G	c.(883-885)aAt>aGt	p.N295S	AKR1A1_ENST00000473038.1_3'UTR|AKR1A1_ENST00000351829.4_Missense_Mutation_p.N295S	NM_001202413.1|NM_001202414.1|NM_006066.3	NP_001189342.1|NP_001189343.1|NP_006057.1	P14550	AK1A1_HUMAN	aldo-keto reductase family 1, member A1 (aldehyde reductase)	295					aldehyde catabolic process (GO:0046185)|cellular aldehyde metabolic process (GO:0006081)|D-glucuronate catabolic process (GO:0042840)|glucose metabolic process (GO:0006006)|L-ascorbic acid biosynthetic process (GO:0019853)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|electron carrier activity (GO:0009055)|L-glucuronate reductase activity (GO:0047939)			lung(3)|prostate(1)|urinary_tract(1)	5	Acute lymphoblastic leukemia(166;0.155)				Doxorubicin(DB00997)	CTGAACAAAAATTGGAGATAT	0.483																																																0													122	118	119					1																	46034873		2203	4300	6503	SO:0001583	missense	10327			J04794	CCDS523.1	1p33-p32	2010-04-08			ENSG00000117448	ENSG00000117448	1.1.1.2	"Aldo-keto reductases"	380	protein-coding gene	gene with protein product	"dihydrodiol dehydrogenase 3"	103830				2498333, 10393438	Standard	NM_001202414		Approved	ALR, DD3	uc001coe.3	P14550	OTTHUMG00000007740	ENST00000372070.3:c.884A>G	chr1.hg19:g.46034873A>G	ENSP00000361140:p.Asn295Ser		A8KAL8|D3DQ04|Q6IAZ4	Missense_Mutation	SNP	ENST00000372070.3	hg19	CCDS523.1	.	.	.	.	.	.	.	.	.	.	A	17.53	3.412079	0.62511	.	.	ENSG00000117448	ENST00000372070;ENST00000351829	T;T	0.31247	1.5;1.5	6.04	6.04	0.98038	NADP-dependent oxidoreductase domain (2);	0.088191	0.85682	D	0.000000	T	0.22589	0.0545	N	0.14661	0.345	0.47737	D	0.999502	B	0.13145	0.007	B	0.08055	0.003	T	0.03202	-1.1061	10	0.72032	D	0.01	.	16.6349	0.85050	1.0:0.0:0.0:0.0	.	295	P14550	AK1A1_HUMAN	S	295	ENSP00000361140:N295S;ENSP00000312606:N295S	ENSP00000312606:N295S	N	+	2	0	AKR1A1	45807460	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.649000	0.74364	2.330000	0.79161	0.477000	0.44152	AAT		0.483	AKR1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020851.1	NM_006066		G	46034873	A	G	46034873	3	3	819	1	0	0	0	0	1	0	0	0	465	101	4	3	910	3	AKR1A1	1	46034873	Missense_Mutation	SNP	A	TCGA-Y8-A897-01A-11D-A35Z-10	19676866	46034873	203215748	2	49227											
GDAP2	54834	hgsc.bcm.edu	37	1	118420604	118420614	+	Intron	DEL	TGAGGGAGAAC	TGAGGGAGAAC	-	rs549457373		TCGA-Y8-A897-01A-11D-A35Z-10	TCGA-Y8-A897-10A-01D-A35Z-10	TGAGGGAGAAC	TGAGGGAGAAC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a18fd0a9-7914-410c-8f2f-0b8c86803b88	56e7a4a9-632d-45d1-a1b1-f3ed4e689c9e	g.chr1:118420604_118420614delTGAGGGAGAAC	ENST00000369443.5	-	13	1696				GDAP2_ENST00000369442.3_Frame_Shift_Del_p.SSPS488fs	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2						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)		CCATACCAGGTGAGGGAGAACTTCTGGTACT	0.408																																																0																																										SO:0001627	intron_variant	54834			AK000149	CCDS897.1, CCDS44201.1	1q11	2011-10-20			ENSG00000196505	ENSG00000196505			18010	protein-coding gene	gene with protein product						1021725	Standard	NM_017686		Approved	FLJ20142, dJ776P7.1, MACROD3	uc001ehf.3	Q9NXN4	OTTHUMG00000012199	ENST00000369443.5:c.1446+16GTTCTCCCTCA>-	chr1.hg19:g.118420604_118420614delTGAGGGAGAAC			Q96DZ0	Frame_Shift_Del	DEL	ENST00000369443.5	hg19	CCDS897.1																																																																																				0.408	GDAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033732.2	NM_017686		-	118420614	TGAGGGAGAAC	-	118420604	6	5	819	0	1	1	0	1	0	0	0	0	6311	1683	59	0		0	GDAP2	1	118420604	Intron	DEL	TGAGGGAGAAC	TCGA-Y8-A897-01A-11D-A35Z-10	72385731	118420604	130830017	3	49228											
SETDB1	9869	hgsc.bcm.edu	37	1	150915165	150915168	+	Splice_Site	DEL	GTAT	GTAT	-			TCGA-Y8-A897-01A-11D-A35Z-10	TCGA-Y8-A897-10A-01D-A35Z-10	GTAT	GTAT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a18fd0a9-7914-410c-8f2f-0b8c86803b88	56e7a4a9-632d-45d1-a1b1-f3ed4e689c9e	g.chr1:150915165_150915168delGTAT	ENST00000271640.5	+	6	863		c.e6+1		SETDB1_ENST00000368963.1_Splice_Site|SETDB1_ENST00000368962.2_Splice_Site|SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368969.4_Splice_Site	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)			CAGACAGTTGGTATGTGCAAACTT	0.475																																																0																																										SO:0001630	splice_region_variant	9869			D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"Chromatin-modifying enzymes / K-methyltransferases", "Tudor domain containing"	10761	protein-coding gene	gene with protein product	"tudor domain containing 21"	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.673+1GTAT>-	chr1.hg19:g.150915165_150915168delGTAT			A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Frame_Shift_Del	DEL	ENST00000271640.5	hg19	CCDS44217.1																																																																																				0.475	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2		Intron	-	150915168	GTAT	-	150915165	8	5	819	1	0	1	0	1	0	0	1	0	14144	1275	44	0	692	0	SETDB1	1	150915165	Splice_Site	DEL	GTAT	TCGA-Y8-A897-01A-11D-A35Z-10	32494561	150915165	98335456	4	49229	529	2									
SETDB1	9869	hgsc.bcm.edu	37	1	150915166	150915170	+	Splice_Site	DEL	TATGT	TATGT	-			TCGA-Y8-A897-01A-11D-A35Z-10	TCGA-Y8-A897-10A-01D-A35Z-10	TATGT	TATGT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a18fd0a9-7914-410c-8f2f-0b8c86803b88	56e7a4a9-632d-45d1-a1b1-f3ed4e689c9e	g.chr1:150915166_150915170delTATGT	ENST00000271640.5	+	6	863		c.e6+2		SETDB1_ENST00000368963.1_Splice_Site|SETDB1_ENST00000368962.2_Splice_Site|SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368969.4_Splice_Site	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)			AGACAGTTGGTATGTGCAAACTTGG	0.478																																																0																																										SO:0001630	splice_region_variant	9869			D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"Chromatin-modifying enzymes / K-methyltransferases", "Tudor domain containing"	10761	protein-coding gene	gene with protein product	"tudor domain containing 21"	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.673+2TATGT>-	chr1.hg19:g.150915166_150915170delTATGT			A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Splice_Site	DEL	ENST00000271640.5	hg19	CCDS44217.1																																																																																				0.478	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2		Intron	-	150915170	TATGT	-	150915166	8	5	819	1	0	1	0	1	0	0	1	0	14144	1652	57	0	693	0	SETDB1	1	150915166	Splice_Site	DEL	TATGT	TCGA-Y8-A897-01A-11D-A35Z-10	1	150915166	98335455	5	49230	529	2									
PEAR1	375033	hgsc.bcm.edu	37	1	156878561	156878561	+	Silent	SNP	C	C	T			TCGA-Y8-A897-01A-11D-A35Z-10	TCGA-Y8-A897-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a18fd0a9-7914-410c-8f2f-0b8c86803b88	56e7a4a9-632d-45d1-a1b1-f3ed4e689c9e	g.chr1:156878561C>T	ENST00000338302.3	+	11	1455	c.1230C>T	c.(1228-1230)tgC>tgT	p.C410C	PEAR1_ENST00000292357.7_Silent_p.C410C			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	410	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				recognition of apoptotic cell (GO:0043654)	integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ACTGTCTCTGCCTGCACGGTG	0.711																																																0													20	18	18					1																	156878561		2191	4287	6478	SO:0001819	synonymous_variant	375033			AK098809	CCDS30892.1	1q23.1	2008-02-05	2007-10-25	2007-10-25	ENSG00000187800	ENSG00000187800			33631	protein-coding gene	gene with protein product		610278	"multiple EGF-like-domains 12"	MEGF12		15851471	Standard	NM_001080471		Approved	JEDI, FLJ00193	uc001fqj.1	Q5VY43	OTTHUMG00000041293	ENST00000338302.3:c.1230C>T	chr1.hg19:g.156878561C>T			Q8TEK2	Silent	SNP	ENST00000338302.3	hg19	CCDS30892.1																																																																																				0.711	PEAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098937.2	NM_001080471		T	156878561	C	T	156878561	2	4	819	1	0	0	0	0	0	0	0	1	11714	747	26	2		2	PEAR1	1	156878561	Silent	SNP	C	TCGA-Y8-A897-01A-11D-A35Z-10	5963395	156878561	92372060	6	49231											
C1orf9	51430	hgsc.bcm.edu	37	1	172543034	172543034	+	Missense_Mutation	SNP	T	T	A			TCGA-Y8-A897-01A-11D-A35Z-10	TCGA-Y8-A897-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a18fd0a9-7914-410c-8f2f-0b8c86803b88	56e7a4a9-632d-45d1-a1b1-f3ed4e689c9e	g.chr1:172543034T>A	ENST00000263688.3	+	10	1272	c.1053T>A	c.(1051-1053)ttT>ttA	p.F351L	SUCO_ENST00000367723.4_Missense_Mutation_p.F509L|SUCO_ENST00000610051.1_Missense_Mutation_p.F314L|SUCO_ENST00000608151.1_Missense_Mutation_p.F510L	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	351	SUN. {ECO:0000255|PROSITE- ProRule:PRU00802}.				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)											TTTGAAGGTTTGTTATTGAAC	0.264																																																0													49	53	52					1																	172543034		2199	4287	6486	SO:0001583	missense	51430			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.1053T>A	chr1.hg19:g.172543034T>A	ENSP00000263688:p.Phe351Leu		B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Missense_Mutation	SNP	ENST00000263688.3	hg19	CCDS1303.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.038021	0.75617	.	.	ENSG00000094975	ENST00000367723;ENST00000263688	T;T	0.39592	1.07;1.07	5.44	4.32	0.51571	Galactose-binding domain-like (1);Sad1/UNC-like, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.44138	0.1279	L	0.47078	1.49	0.80722	D	1	D;P;D;D	0.76494	0.992;0.861;0.999;0.999	D;P;D;D	0.87578	0.987;0.89;0.998;0.998	T	0.49021	-0.8982	10	0.87932	D	0	-19.703	10.1906	0.43024	0.0:0.0795:0.0:0.9205	.	314;351;510;351	B4DYM4;B4DZJ3;Q5H945;Q9UBS9	.;.;.;OSPT_HUMAN	L	510;351	ENSP00000356696:F510L;ENSP00000263688:F351L	ENSP00000263688:F351L	F	+	3	2	C1orf9	170809657	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.414000	0.52693	0.897000	0.36392	0.383000	0.25322	TTT		0.264	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084273.1	NM_016227		A	172543034	T	A	172543034	3	1	819	1	0	0	0	0	1	0	0	0	2069	1809	63	5	1091	5	C1orf9	1	172543034	Missense_Mutation	SNP	T	TCGA-Y8-A897-01A-11D-A35Z-10	15664473	172543034	76707587	7	49232											
USH2A	7399	hgsc.bcm.edu	37	1	216495239	216495239	+	Missense_Mutation	SNP	T	T	A			TCGA-Y8-A897-01A-11D-A35Z-10	TCGA-Y8-A897-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a18fd0a9-7914-410c-8f2f-0b8c86803b88	56e7a4a9-632d-45d1-a1b1-f3ed4e689c9e	g.chr1:216495239T>A	ENST00000307340.3	-	9	2016	c.1630A>T	c.(1630-1632)Act>Tct	p.T544S	USH2A_ENST00000366942.3_Missense_Mutation_p.T544S|USH2A_ENST00000366943.2_Missense_Mutation_p.T544S	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	544	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGTCCTTCAGTGAAGCTCTCC	0.413										HNSCC(13;0.011)																																						0													153	141	145					1																	216495239		2203	4300	6503	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.1630A>T	chr1.hg19:g.216495239T>A	ENSP00000305941:p.Thr544Ser		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	hg19	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.029846	0.75504	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.64438	-0.1;-0.1;-0.1	5.65	4.49	0.54785	EGF-like, laminin (3);	0.000000	0.43579	U	0.000554	D	0.86451	0.5936	H	0.98466	4.24	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.87578	0.992;0.998	D	0.90034	0.4137	10	0.87932	D	0	.	12.6812	0.56922	0.0:0.0:0.1379:0.8621	.	544;544	O75445-2;O75445	.;USH2A_HUMAN	S	544	ENSP00000305941:T544S;ENSP00000355910:T544S;ENSP00000355909:T544S	ENSP00000305941:T544S	T	-	1	0	USH2A	214561862	1.000000	0.71417	0.960000	0.40013	0.643000	0.38383	4.814000	0.62627	0.911000	0.36747	0.455000	0.32223	ACT		0.413	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		A	216495239	T	A	216495239	3	1	819	1	0	0	0	0	1	0	0	0	17041	1696	59	5	14248	5	USH2A	1	216495239	Missense_Mutation	SNP	T	TCGA-Y8-A897-01A-11D-A35Z-10	43952205	216495239	32755382	8	49233											
NUP133	55746	hgsc.bcm.edu	37	1	229631660	229631660	+	Missense_Mutation	SNP	T	T	A			TCGA-Y8-A897-01A-11D-A35Z-10	TCGA-Y8-A897-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a18fd0a9-7914-410c-8f2f-0b8c86803b88	56e7a4a9-632d-45d1-a1b1-f3ed4e689c9e	g.chr1:229631660T>A	ENST00000261396.3	-	7	1045	c.954A>T	c.(952-954)gaA>gaT	p.E318D	NUP133_ENST00000537506.1_Missense_Mutation_p.E302D	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	318					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)				CGGTAATGTTTTCCTTCAGGG	0.333																																																0													121	122	122					1																	229631660		2203	4300	6503	SO:0001583	missense	55746				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.954A>T	chr1.hg19:g.229631660T>A	ENSP00000261396:p.Glu318Asp		B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Missense_Mutation	SNP	ENST00000261396.3	hg19	CCDS1579.1	.	.	.	.	.	.	.	.	.	.	T	14.25	2.480586	0.44044	.	.	ENSG00000069248	ENST00000366681;ENST00000261396;ENST00000366679;ENST00000537506	T;T;T	0.26518	1.73;1.73;1.73	5.57	-5.85	0.02311	WD40/YVTN repeat-like-containing domain (1);Nucleoporin, Nup133/Nup155-like, N-terminal (1);	0.045027	0.85682	D	0.000000	T	0.25419	0.0618	L	0.44542	1.39	0.47819	D	0.999526	P	0.46784	0.884	P	0.50490	0.642	T	0.10613	-1.0622	10	0.30854	T	0.27	-4.8162	14.423	0.67196	0.0:0.5307:0.0:0.4693	.	318	Q8WUM0	NU133_HUMAN	D	318;318;318;302	ENSP00000261396:E318D;ENSP00000355640:E318D;ENSP00000443496:E302D	ENSP00000261396:E318D	E	-	3	2	NUP133	227698283	0.689000	0.27690	0.051000	0.19133	0.954000	0.61252	-0.292000	0.08332	-1.201000	0.02659	-0.263000	0.10527	GAA		0.333	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1	NM_018230		A	229631660	T	A	229631660	3	1	819	1	0	0	0	0	1	0	0	0	10756	1838	64	5	2596	5	NUP133	1	229631660	Missense_Mutation	SNP	T	TCGA-Y8-A897-01A-11D-A35Z-10	13136421	229631660	19618961	9	49234	530	2									
NUP133	55746	hgsc.bcm.edu	37	1	229631662	229631662	+	Frame_Shift_Del	DEL	C	C	-			TCGA-Y8-A897-01A-11D-A35Z-10	TCGA-Y8-A897-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a18fd0a9-7914-410c-8f2f-0b8c86803b88	56e7a4a9-632d-45d1-a1b1-f3ed4e689c9e	g.chr1:229631662delC	ENST00000261396.3	-	7	1043	c.952delG	c.(952-954)gaafs	p.E318fs	NUP133_ENST00000537506.1_Frame_Shift_Del_p.E302fs	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	318					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)				GTAATGTTTTCCTTCAGGGCT	0.333																																																0													120	121	121					1																	229631662		2203	4300	6503	SO:0001589	frameshift_variant	55746				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.952delG	chr1.hg19:g.229631662delC	ENSP00000261396:p.Glu318fs		B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Frame_Shift_Del	DEL	ENST00000261396.3	hg19	CCDS1579.1																																																																																				0.333	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1	NM_018230		-	229631662	C	-	229631662	7	5	819	1	0	1	0	1	0	0	0	0	10756	864	30	0	2598	0	NUP133	1	229631662	Frame_Shift_Del	DEL	C	TCGA-Y8-A897-01A-11D-A35Z-10	2	229631662	19618959	10	49235	530	2									
PREPL	9581	hgsc.bcm.edu	37	2	44549877	44549877	+	Silent	SNP	T	T	C			TCGA-Y8-A897-01A-11D-A35Z-10	TCGA-Y8-A897-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a18fd0a9-7914-410c-8f2f-0b8c86803b88	56e7a4a9-632d-45d1-a1b1-f3ed4e689c9e	g.chr2:44549877T>C	ENST00000409936.1	-	13	2450	c.2013A>G	c.(2011-2013)acA>acG	p.T671T	PREPL_ENST00000409272.1_Silent_p.T671T|PREPL_ENST00000378520.3_Silent_p.T605T|PREPL_ENST00000409411.1_Silent_p.T582T|PREPL_ENST00000378511.3_Silent_p.T609T|PREPL_ENST00000541738.1_Silent_p.T582T|PREPL_ENST00000409957.1_Silent_p.T582T|PREPL_ENST00000260648.6_Silent_p.T671T|PREPL_ENST00000410081.1_Silent_p.T671T	NM_001171606.1	NP_001165077.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	671						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TACCTTCACCTGTGTCCTTAG	0.468																																																0													218	209	212					2																	44549877		2203	4300	6503	SO:0001819	synonymous_variant	9581			AB007896	CCDS33190.1, CCDS42675.1, CCDS42676.1, CCDS54353.1	2p22.1	2008-02-05			ENSG00000138078	ENSG00000138078			30228	protein-coding gene	gene with protein product		609557				11524703	Standard	NM_006036		Approved	KIAA0436	uc002ruk.2	Q4J6C6	OTTHUMG00000152791	ENST00000409936.1:c.2013A>G	chr2.hg19:g.44549877T>C			A7E2X6|D6W5A3|O43163|Q4J6C3|Q4J6C4|Q4ZG39|Q6ZMW7|Q96DW7	Silent	SNP	ENST00000409936.1	hg19	CCDS33190.1	.	.	.	.	.	.	.	.	.	.	T	8.440	0.850530	0.17034	.	.	ENSG00000138078	ENST00000420756	.	.	.	5.42	-10.8	0.00216	.	.	.	.	.	T	0.14098	0.0341	.	.	.	0.09310	N	0.99999	.	.	.	.	.	.	T	0.07829	-1.0752	4	.	.	.	1.8666	1.7996	0.03068	0.1889:0.2778:0.3326:0.2007	.	.	.	.	R	53	.	.	Q	-	2	0	PREPL	44403381	0.000000	0.05858	0.000000	0.03702	0.264000	0.26372	-2.011000	0.01452	-3.526000	0.00147	-0.256000	0.11100	CAG		0.468	PREPL-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327900.1	NM_006036		C	44549877	T	C	44549877	2	2	819	1	0	0	0	0	0	0	0	1	12480	1567	55	3		3	PREPL	2	44549877	Silent	SNP	T	TCGA-Y8-A897-01A-11D-A35Z-10		44549877	198649496	11	49236											
GPD2	2820	hgsc.bcm.edu	37	2	157407170	157407170	+	Missense_Mutation	SNP	G	G	A			TCGA-Y8-A897-01A-11D-A35Z-10	TCGA-Y8-A897-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a18fd0a9-7914-410c-8f2f-0b8c86803b88	56e7a4a9-632d-45d1-a1b1-f3ed4e689c9e	g.chr2:157407170G>A	ENST00000310454.6	+	8	1255	c.883G>A	c.(883-885)Gac>Aac	p.D295N	GPD2_ENST00000409125.4_Missense_Mutation_p.D68N|GPD2_ENST00000409674.1_Missense_Mutation_p.D295N|GPD2_ENST00000438166.2_Missense_Mutation_p.D295N|GPD2_ENST00000540309.1_Missense_Mutation_p.D295N	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	295					camera-type eye development (GO:0043010)|cellular lipid metabolic process (GO:0044255)|gluconeogenesis (GO:0006094)|glycerol catabolic process (GO:0019563)|glycerol-3-phosphate metabolic process (GO:0006072)|multicellular organism growth (GO:0035264)|small molecule metabolic process (GO:0044281)	glycerol-3-phosphate dehydrogenase complex (GO:0009331)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|glycerol-3-phosphate dehydrogenase activity (GO:0004368)|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity (GO:0052591)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						ACCTTTCACGGACTCTGTGCG	0.463																																																0													130	113	119					2																	157407170		2203	4300	6503	SO:0001583	missense	2820				CCDS2202.1	2q24.1	2013-01-10			ENSG00000115159	ENSG00000115159	1.1.1.8	"EF-hand domain containing"	4456	protein-coding gene	gene with protein product		138430					Standard	NM_001083112		Approved		uc002tzd.4	P43304	OTTHUMG00000131951	ENST00000310454.6:c.883G>A	chr2.hg19:g.157407170G>A	ENSP00000308610:p.Asp295Asn		A8K4V0|B3KSA9|Q59FR1|Q9HAP9	Missense_Mutation	SNP	ENST00000310454.6	hg19	CCDS2202.1	.	.	.	.	.	.	.	.	.	.	G	36	5.650365	0.96714	.	.	ENSG00000115159	ENST00000310454;ENST00000409125;ENST00000438166;ENST00000540309;ENST00000409674	D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54	5.68	5.68	0.88126	FAD dependent oxidoreductase (1);	0.041854	0.85682	N	0.000000	D	0.92642	0.7662	M	0.86651	2.83	0.80722	D	1	B	0.24920	0.114	P	0.56278	0.795	D	0.91028	0.4862	10	0.87932	D	0	.	19.7855	0.96434	0.0:0.0:1.0:0.0	.	295	P43304	GPDM_HUMAN	N	295;68;295;295;295	ENSP00000308610:D295N;ENSP00000386484:D68N;ENSP00000409708:D295N;ENSP00000440892:D295N;ENSP00000386425:D295N	ENSP00000308610:D295N	D	+	1	0	GPD2	157115416	1.000000	0.71417	0.994000	0.49952	0.958000	0.62258	9.824000	0.99380	2.675000	0.91044	0.563000	0.77884	GAC		0.463	GPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254910.3			A	157407170	G	A	157407170	3	1	819	1	0	0	0	0	1	0	0	0	6608	1174	41	2	909	2	GPD2	2	157407170	Missense_Mutation	SNP	G	TCGA-Y8-A897-01A-11D-A35Z-10	112857293	157407170	85792203	12	49237											
ABCB6	10058	hgsc.bcm.edu	37	2	220081117	220081117	+	Missense_Mutation	SNP	C	C	G			TCGA-Y8-A897-01A-11D-A35Z-10	TCGA-Y8-A897-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a18fd0a9-7914-410c-8f2f-0b8c86803b88	56e7a4a9-632d-45d1-a1b1-f3ed4e689c9e	g.chr2:220081117C>G	ENST00000265316.3	-	4	1255	c.939G>C	c.(937-939)aaG>aaC	p.K313N	ABCB6_ENST00000439002.2_Missense_Mutation_p.K267N	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)	313	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|porphyrin-containing compound biosynthetic process (GO:0006779)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial envelope (GO:0005740)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|efflux transmembrane transporter activity (GO:0015562)|heme binding (GO:0020037)|heme transporter activity (GO:0015232)|heme-transporting ATPase activity (GO:0015439)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTGGAGGAACTTGAGGAAGA	0.562																																																0													96	104	101					2																	220081117		2203	4300	6503	SO:0001583	missense	10058			AF070598	CCDS2436.1	2q36	2014-08-27	2014-08-27		ENSG00000115657	ENSG00000115657		"ATP binding cassette transporters / subfamily B"	47	protein-coding gene	gene with protein product	"ATP-binding cassette half-transporter"	605452	"ATP-binding cassette, sub-family B (MDR/TAP), member 6"			8894702, 9110174	Standard	NM_005689		Approved	EST45597, umat, MTABC3	uc002vkc.2	Q9NP58	OTTHUMG00000133131	ENST00000265316.3:c.939G>C	chr2.hg19:g.220081117C>G	ENSP00000265316:p.Lys313Asn		O75542|Q49A66|Q59GQ5|Q6ZME6|Q96ME8|Q9HAQ6|Q9HAQ7	Missense_Mutation	SNP	ENST00000265316.3	hg19	CCDS2436.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.1|25.1	4.601897|4.601897	0.87055|0.87055	.|.	.|.	ENSG00000115657|ENSG00000115657	ENST00000265316;ENST00000439002|ENST00000295750	D;D|.	0.94497|.	-3.39;-3.44|.	5.17|5.17	4.28|4.28	0.50868|0.50868	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78604|0.78604	0.4309|0.4309	M|M	0.86343|0.86343	2.81|2.81	0.80722|0.80722	D|D	1|1	D;D|.	0.71674|.	0.992;0.998|.	D;D|.	0.77004|.	0.948;0.989|.	T|T	0.81326|0.81326	-0.0983|-0.0983	10|5	0.56958|.	D|.	0.05|.	-25.1829|-25.1829	14.1461|14.1461	0.65351|0.65351	0.0:0.927:0.0:0.073|0.0:0.927:0.0:0.073	.|.	267;313|.	Q9NP58-4;Q9NP58|.	.;ABCB6_HUMAN|.	N|T	313;267|161	ENSP00000265316:K313N;ENSP00000394333:K267N|.	ENSP00000265316:K313N|.	K|S	-|-	3|2	2|0	ABCB6|ABCB6	219789361|219789361	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.831000|3.831000	0.55776|0.55776	2.683000|2.683000	0.91414|0.91414	0.650000|0.650000	0.86243|0.86243	AAG|AGT		0.562	ABCB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256820.2	NM_005689		G	220081117	C	G	220081117	3	3	819	1	0	0	0	0	1	0	0	0	45	564	20	4	1653	4	ABCB6	2	220081117	Missense_Mutation	SNP	C	TCGA-Y8-A897-01A-11D-A35Z-10	62673947	220081117	23118256	13	49238											
KIF1A	547	hgsc.bcm.edu	37	2	241689964	241689964	+	Splice_Site	SNP	C	C	T			TCGA-Y8-A897-01A-11D-A35Z-10	TCGA-Y8-A897-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a18fd0a9-7914-410c-8f2f-0b8c86803b88	56e7a4a9-632d-45d1-a1b1-f3ed4e689c9e	g.chr2:241689964C>T	ENST00000320389.7	-	26	2714	c.2556G>A	c.(2554-2556)agG>agA	p.R852R	KIF1A_ENST00000498729.2_Splice_Site_p.R953R	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	852					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)		ACACGAAGGCCCTGGGGAGAA	0.642																																																0													46	53	51					2																	241689964		2134	4240	6374	SO:0001630	splice_region_variant	547			AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"Kinesins", "Pleckstrin homology (PH) domain containing"	888	protein-coding gene	gene with protein product		601255	"axonal transport of synaptic vesicles", "chromosome 2 open reading frame 20", "spastic paraplegia 30 (autosomal recessive)"	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.2556-1G>A	chr2.hg19:g.241689964C>T			B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Silent	SNP	ENST00000320389.7	hg19	CCDS46561.1																																																																																				0.642	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483	Silent	T	241689964	C	T	241689964	5	4	819	1	0	0	0	0	0	0	1	0	8285	637	22	2	2604	2	KIF1A	2	241689964	Splice_Site	SNP	C	TCGA-Y8-A897-01A-11D-A35Z-10	21608847	241689964	1509409	14	49239											
RBM6	10180	hgsc.bcm.edu	37	3	50103677	50103677	+	Silent	SNP	T	T	G			TCGA-Y8-A897-01A-11D-A35Z-10	TCGA-Y8-A897-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a18fd0a9-7914-410c-8f2f-0b8c86803b88	56e7a4a9-632d-45d1-a1b1-f3ed4e689c9e	g.chr3:50103677T>G	ENST00000266022.4	+	17	2944	c.2685T>G	c.(2683-2685)ccT>ccG	p.P895P	RBM6_ENST00000539992.1_Silent_p.P237P|RBM6_ENST00000442092.1_Silent_p.P373P|RBM6_ENST00000443081.1_Silent_p.P763P|RBM6_ENST00000421682.1_5'Flank|RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000422955.1_Silent_p.P373P	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	895	Poly-Pro.				RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		CCTTCCAGCCTAAAGTGGTAA	0.463																																																0													35	38	37					3																	50103677		2203	4300	6503	SO:0001819	synonymous_variant	10180			AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"RNA binding motif (RRM) containing", "G patch domain containing"	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.2685T>G	chr3.hg19:g.50103677T>G			O60549|O75524|Q86SS3	Silent	SNP	ENST00000266022.4	hg19	CCDS2809.1																																																																																				0.463	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345528.4	NM_005777		G	50103677	T	G	50103677	2	3	819	1	0	0	0	0	0	0	0	1	13150	1509	53	5		5	RBM6	3	50103677	Silent	SNP	T	TCGA-Y8-A897-01A-11D-A35Z-10		50103677	147918753	15	49240											
MYNN	55892	hgsc.bcm.edu	37	3	169496760	169496761	+	Frame_Shift_Ins	INS	-	-	G			TCGA-Y8-A897-01A-11D-A35Z-10	TCGA-Y8-A897-10A-01D-A35Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a18fd0a9-7914-410c-8f2f-0b8c86803b88	56e7a4a9-632d-45d1-a1b1-f3ed4e689c9e	g.chr3:169496760_169496761insG	ENST00000349841.5	+	3	1134_1135	c.471_472insG	c.(472-474)gtafs	p.V158fs	MYNN_ENST00000392733.1_Frame_Shift_Ins_p.V158fs|RP11-362K14.5_ENST00000602342.1_RNA|MYNN_ENST00000356716.4_Frame_Shift_Ins_p.V158fs|MYNN_ENST00000544106.1_Frame_Shift_Ins_p.V158fs	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	158					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)			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			AGAAATCAGAAGTATCTACAGA	0.366																																																0																																										SO:0001589	frameshift_variant	55892			AF148848	CCDS3207.1, CCDS54671.1	3q26.31	2013-01-09			ENSG00000085274	ENSG00000085274		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	14955	protein-coding gene	gene with protein product		606042				10873615	Standard	NM_001185118		Approved	SBBIZ1, ZBTB31, ZNF902	uc010hwo.3	Q9NPC7		ENST00000349841.5:c.472dupG	chr3.hg19:g.169496761_169496761dupG	ENSP00000326240:p.Val158fs		B2R6C9|Q6QHA6|Q6QHA7|Q6R3G1|Q6R3G2|Q6R4A0|Q7Z716|Q7Z717|Q86Z11|Q86Z12|Q9NS01|Q9UIW8	Frame_Shift_Ins	INS	ENST00000349841.5	hg19	CCDS3207.1																																																																																				0.366	MYNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467801.1	NM_018657		G	169496761	-	G	169496760	7	5	819	1	0	1	1	0	0	0	0	0	10063	69	3	0	477	0	MYNN	3	169496760	Frame_Shift_Ins	INS	-	TCGA-Y8-A897-01A-11D-A35Z-10	119393083	169496760	28525670	16	49241											
HERC6	55008	hgsc.bcm.edu	37	4	89361324	89361324	+	Missense_Mutation	SNP	C	C	A			TCGA-Y8-A897-01A-11D-A35Z-10	TCGA-Y8-A897-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a18fd0a9-7914-410c-8f2f-0b8c86803b88	56e7a4a9-632d-45d1-a1b1-f3ed4e689c9e	g.chr4:89361324C>A	ENST00000264346.7	+	22	2823	c.2764C>A	c.(2764-2766)Caa>Aaa	p.Q922K	HERC6_ENST00000380265.5_Missense_Mutation_p.Q886K	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	922	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				hematopoietic progenitor cell differentiation (GO:0002244)|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)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		GCAAGGATACCAAAAATCACA	0.368																																																0													58	52	54					4																	89361324		1835	4092	5927	SO:0001583	missense	55008			AF336798	CCDS47098.1, CCDS54777.1	4q22	2012-02-23	2012-02-23		ENSG00000138642	ENSG00000138642			26072	protein-coding gene	gene with protein product		609249	"hect domain and RLD 6"				Standard	NM_001165136		Approved	FLJ20637	uc011cdi.2	Q8IVU3	OTTHUMG00000160983	ENST00000264346.7:c.2764C>A	chr4.hg19:g.89361324C>A	ENSP00000264346:p.Gln922Lys		B4DIY5|Q5GC90|Q5GRH3|Q5HYM6|Q5JPB6|Q6PIF4|Q8NAN3|Q9NWS4	Missense_Mutation	SNP	ENST00000264346.7	hg19	CCDS47098.1	.	.	.	.	.	.	.	.	.	.	C	1.116	-0.656611	0.03480	.	.	ENSG00000138642	ENST00000380265;ENST00000264346	T;T	0.56444	0.46;0.46	5.0	-2.57	0.06248	HECT (4);	0.912860	0.09345	N	0.814981	T	0.24624	0.0597	N	0.16903	0.455	0.25165	N	0.990324	B;B	0.16802	0.015;0.019	B;B	0.22152	0.023;0.038	T	0.26467	-1.0102	10	0.05959	T	0.93	.	0.9787	0.01431	0.4096:0.2078:0.1032:0.2795	.	886;922	Q8IVU3-2;Q8IVU3	.;HERC6_HUMAN	K	886;922	ENSP00000369617:Q886K;ENSP00000264346:Q922K	ENSP00000264346:Q922K	Q	+	1	0	HERC6	89580347	0.000000	0.05858	0.001000	0.08648	0.059000	0.15707	-4.663000	0.00201	-0.733000	0.04850	-0.237000	0.12165	CAA		0.368	HERC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363259.2			A	89361324	C	A	89361324	3	1	819	1	0	0	0	0	1	0	0	0	7064	595	21	4	2647	4	HERC6	4	89361324	Missense_Mutation	SNP	C	TCGA-Y8-A897-01A-11D-A35Z-10		89361324	101792952	17	49242											
CMYA5	202333	hgsc.bcm.edu	37	5	79025276	79025276	+	Missense_Mutation	SNP	A	A	C	rs114327893		TCGA-Y8-A897-01A-11D-A35Z-10	TCGA-Y8-A897-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a18fd0a9-7914-410c-8f2f-0b8c86803b88	56e7a4a9-632d-45d1-a1b1-f3ed4e689c9e	g.chr5:79025276A>C	ENST00000446378.2	+	2	719	c.688A>C	c.(688-690)Aag>Cag	p.K230Q		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	230					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)		ATATAAAATTAAGATGTTTAA	0.323																																																0													46	45	45					5																	79025276		1808	4080	5888	SO:0001583	missense	202333			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.688A>C	chr5.hg19:g.79025276A>C	ENSP00000394770:p.Lys230Gln		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	hg19	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	A	15.86	2.956820	0.53293	.	.	ENSG00000164309	ENST00000446378	T	0.61392	0.11	6.06	6.06	0.98353	.	0.000000	0.56097	D	0.000038	T	0.54481	0.1861	L	0.34521	1.04	0.24052	N	0.996045	P	0.52463	0.953	P	0.49387	0.609	T	0.56159	-0.8025	10	0.87932	D	0	.	11.3193	0.49412	0.8036:0.1964:0.0:0.0	.	230	Q8N3K9	CMYA5_HUMAN	Q	230	ENSP00000394770:K230Q	ENSP00000394770:K230Q	K	+	1	0	CMYA5	79061032	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.987000	0.56944	2.315000	0.78130	0.533000	0.62120	AAG		0.323	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		C	79025276	A	C	79025276	3	2	819	1	0	0	0	0	1	0	0	0	3592	363	13	5	694	5	CMYA5	5	79025276	Missense_Mutation	SNP	A	TCGA-Y8-A897-01A-11D-A35Z-10		79025276	101889984	18	49243											
GPR98	84059	hgsc.bcm.edu	37	5	90073763	90073763	+	Missense_Mutation	SNP	T	T	G			TCGA-Y8-A897-01A-11D-A35Z-10	TCGA-Y8-A897-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a18fd0a9-7914-410c-8f2f-0b8c86803b88	56e7a4a9-632d-45d1-a1b1-f3ed4e689c9e	g.chr5:90073763T>G	ENST00000405460.2	+	62	12665	c.12569T>G	c.(12568-12570)tTc>tGc	p.F4190C		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4190	Calx-beta 28. {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)		GTCACAGTGTTCTGGAGGATA	0.428																																																0													72	73	73					5																	90073763		1891	4109	6000	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.12569T>G	chr5.hg19:g.90073763T>G	ENSP00000384582:p.Phe4190Cys		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	hg19	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	T	10.71	1.427948	0.25726	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.27557	1.66	5.24	-5.55	0.02536	.	0.648335	0.17229	N	0.182009	T	0.12008	0.0292	N	0.14661	0.345	0.09310	N	0.999991	P	0.52463	0.953	B	0.43155	0.41	T	0.18429	-1.0337	10	0.38643	T	0.18	.	2.0846	0.03643	0.4047:0.1855:0.0698:0.34	.	4190	Q8WXG9	GPR98_HUMAN	C	4190	ENSP00000384582:F4190C	ENSP00000296619:F4190C	F	+	2	0	GPR98	90109519	0.003000	0.15002	0.106000	0.21319	0.384000	0.30261	-0.029000	0.12329	-1.402000	0.02056	0.368000	0.22195	TTC		0.428	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		G	90073763	T	G	90073763	3	3	819	1	0	0	0	0	1	0	0	0	6723	1783	62	5	12815	5	GPR98	5	90073763	Missense_Mutation	SNP	T	TCGA-Y8-A897-01A-11D-A35Z-10	11048487	90073763	90841497	19	49244											
ZNF318	24149	hgsc.bcm.edu	37	6	43305308	43305308	+	Missense_Mutation	SNP	G	G	A			TCGA-Y8-A897-01A-11D-A35Z-10	TCGA-Y8-A897-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a18fd0a9-7914-410c-8f2f-0b8c86803b88	56e7a4a9-632d-45d1-a1b1-f3ed4e689c9e	g.chr6:43305308G>A	ENST00000361428.2	-	10	6505	c.6428C>T	c.(6427-6429)tCc>tTc	p.S2143F	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	2143					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)			GTCTAATTGGGAAGATTCTTT	0.473																																																0													60	57	58					6																	43305308		2203	4300	6503	SO:0001583	missense	24149			AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"Zinc fingers, C2H2-type"	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.6428C>T	chr6.hg19:g.43305308G>A	ENSP00000354964:p.Ser2143Phe		O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	hg19	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	G	11.91	1.778572	0.31502	.	.	ENSG00000171467	ENST00000361428	T	0.12774	2.65	5.86	2.62	0.31277	.	0.382752	0.22732	N	0.056305	T	0.03783	0.0107	N	0.20986	0.625	0.45621	D	0.998558	B	0.14438	0.01	B	0.16722	0.016	T	0.21348	-1.0248	10	0.46703	T	0.11	-2.181	10.7458	0.46179	0.0744:0.2474:0.6782:0.0	.	2143	Q5VUA4	ZN318_HUMAN	F	2143	ENSP00000354964:S2143F	ENSP00000354964:S2143F	S	-	2	0	ZNF318	43413286	0.978000	0.34361	0.993000	0.49108	0.933000	0.57130	1.404000	0.34623	0.786000	0.33708	-0.176000	0.13171	TCC		0.473	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		A	43305308	G	A	43305308	3	1	819	1	0	0	0	0	1	0	0	0	17841	1174	41	2	415	2	ZNF318	6	43305308	Missense_Mutation	SNP	G	TCGA-Y8-A897-01A-11D-A35Z-10		43305308	127809759	20	49245											
CDC5L	988	hgsc.bcm.edu	37	6	44392211	44392211	+	Missense_Mutation	SNP	A	A	G			TCGA-Y8-A897-01A-11D-A35Z-10	TCGA-Y8-A897-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a18fd0a9-7914-410c-8f2f-0b8c86803b88	56e7a4a9-632d-45d1-a1b1-f3ed4e689c9e	g.chr6:44392211A>G	ENST00000371477.3	+	11	1759	c.1460A>G	c.(1459-1461)aAg>aGg	p.K487R		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	487	Interaction with PPP1R8.				cell cycle (GO:0007049)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|WD40-repeat domain binding (GO:0071987)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CCTGCCCCTAAGAATGATTTT	0.413																																																0													107	101	103					6																	44392211		2203	4300	6503	SO:0001583	missense	988			D85423	CCDS4912.1	6p21.1	2013-01-17	2013-01-17		ENSG00000096401	ENSG00000096401			1743	protein-coding gene	gene with protein product		602868	"CDC5 (cell division cycle 5, S. pombe, homolog)-like", "CDC5 cell division cycle 5-like (S. pombe)"			9598309, 9038199	Standard	NM_001253		Approved	PCDC5RP, hCDC5, CEF1, CDC5	uc003oxl.3	Q99459	OTTHUMG00000014767	ENST00000371477.3:c.1460A>G	chr6.hg19:g.44392211A>G	ENSP00000360532:p.Lys487Arg		Q76N46|Q99974	Missense_Mutation	SNP	ENST00000371477.3	hg19	CCDS4912.1	.	.	.	.	.	.	.	.	.	.	A	15.44	2.835675	0.50951	.	.	ENSG00000096401	ENST00000371477	T	0.49139	0.79	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	T	0.36358	0.0964	M	0.69248	2.105	0.58432	D	0.999999	B	0.24618	0.107	B	0.27262	0.078	T	0.23084	-1.0198	10	0.33141	T	0.24	-20.4495	16.5932	0.84781	1.0:0.0:0.0:0.0	.	487	Q99459	CDC5L_HUMAN	R	487	ENSP00000360532:K487R	ENSP00000360532:K487R	K	+	2	0	CDC5L	44500189	1.000000	0.71417	0.999000	0.59377	0.960000	0.62799	7.569000	0.82380	2.320000	0.78422	0.528000	0.53228	AAG		0.413	CDC5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040743.1			G	44392211	A	G	44392211	3	3	819	1	0	0	0	0	1	0	0	0	3084	72	3	3	1502	3	CDC5L	6	44392211	Missense_Mutation	SNP	A	TCGA-Y8-A897-01A-11D-A35Z-10	1086903	44392211	126722856	21	49246											
SYNJ2	8871	hgsc.bcm.edu	37	6	158504535	158504535	+	Silent	SNP	G	G	A			TCGA-Y8-A897-01A-11D-A35Z-10	TCGA-Y8-A897-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a18fd0a9-7914-410c-8f2f-0b8c86803b88	56e7a4a9-632d-45d1-a1b1-f3ed4e689c9e	g.chr6:158504535G>A	ENST00000355585.4	+	21	3015	c.2940G>A	c.(2938-2940)cgG>cgA	p.R980R	SYNJ2_ENST00000367122.2_Silent_p.R980R|SYNJ2_ENST00000367112.1_Silent_p.R65R|SYNJ2_ENST00000367121.3_Silent_p.R980R	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	980					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)		AGATCATTCGGAAACGAGACA	0.532																																																0													105	97	100					6																	158504535		2203	4300	6503	SO:0001819	synonymous_variant	8871			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.2940G>A	chr6.hg19:g.158504535G>A			Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Silent	SNP	ENST00000355585.4	hg19	CCDS5254.1																																																																																				0.532	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2			A	158504535	G	A	158504535	2	1	819	1	0	0	0	0	0	0	0	1	15458	1161	41	2		2	SYNJ2	6	158504535	Silent	SNP	G	TCGA-Y8-A897-01A-11D-A35Z-10	114112324	158504535	12610532	22	49247											
FAM20C	56975	hgsc.bcm.edu	37	7	208977	208977	+	Splice_Site	SNP	G	G	A			TCGA-Y8-A897-01A-11D-A35Z-10	TCGA-Y8-A897-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a18fd0a9-7914-410c-8f2f-0b8c86803b88	56e7a4a9-632d-45d1-a1b1-f3ed4e689c9e	g.chr7:208977G>A	ENST00000313766.5	+	3	1094		c.e3+1			NM_020223.3	NP_064608.2	Q8IXL6	DMP4_HUMAN	family with sequence similarity 20, member C						dentinogenesis (GO:0097187)|enamel mineralization (GO:0070166)|odontoblast differentiation (GO:0071895)|osteoclast maturation (GO:0036179)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|protein phosphorylation (GO:0006468)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of phosphorus metabolic process (GO:0051174)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(2)|urinary_tract(1)	4		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.57e-17)|Epithelial(4;1.26e-16)|all cancers(6;4.79e-14)		AACCCATGAAGTAAGTGCCGA	0.627																																																0													46	48	48					7																	208977		2038	4186	6224	SO:0001630	splice_region_variant	56975			BC040074	CCDS47522.1	7p22.3	2012-11-29			ENSG00000177706	ENSG00000177706			22140	protein-coding gene	gene with protein product	"dentin matrix protein 4"	611061				17369251, 17924334	Standard	NM_020223		Approved	IMAGE:4942737, DKFZp547D065, DMP4	uc003sip.3	Q8IXL6	OTTHUMG00000151401	ENST00000313766.5:c.863+1G>A	chr7.hg19:g.208977G>A			A4D2Q5|L8B5W8|Q5I0W9|Q7Z4I0|Q9NPT2	Splice_Site	SNP	ENST00000313766.5	hg19	CCDS47522.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.660989	0.88154	.	.	ENSG00000177706	ENST00000313766	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5659	0.87919	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAM20C	304060	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	8.213000	0.89758	2.439000	0.82584	0.655000	0.94253	.		0.627	FAM20C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322476.2	NM_020223	Intron	A	208977	G	A	208977	5	1	819	1	0	0	0	0	0	0	1	0	5541	1043	36	2	874	2	FAM20C	7	208977	Splice_Site	SNP	G	TCGA-Y8-A897-01A-11D-A35Z-10		208977	158929686	23	49248											
SLC4A2	6522	hgsc.bcm.edu	37	7	150771852	150771852	+	Missense_Mutation	SNP	G	G	A			TCGA-Y8-A897-01A-11D-A35Z-10	TCGA-Y8-A897-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a18fd0a9-7914-410c-8f2f-0b8c86803b88	56e7a4a9-632d-45d1-a1b1-f3ed4e689c9e	g.chr7:150771852G>A	ENST00000485713.1	+	19	4011	c.2971G>A	c.(2971-2973)Gtg>Atg	p.V991M	RP11-148K1.12_ENST00000485974.1_RNA|FASTK_ENST00000489884.1_5'Flank|SLC4A2_ENST00000392826.2_Missense_Mutation_p.V982M|SLC4A2_ENST00000413384.2_Missense_Mutation_p.V991M|SLC4A2_ENST00000461735.1_Missense_Mutation_p.V977M|SLC4A2_ENST00000310317.5_Missense_Mutation_p.V909M	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	991	Membrane (anion exchange).				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)		CCCCTTCCCTGTGTGGATGAT	0.582																																																0													76	80	79					7																	150771852		2203	4300	6503	SO:0001583	missense	6522				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.2971G>A	chr7.hg19:g.150771852G>A	ENSP00000419412:p.Val991Met		B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Missense_Mutation	SNP	ENST00000485713.1	hg19	CCDS5917.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.982076	0.53827	.	.	ENSG00000164889	ENST00000485713;ENST00000413384;ENST00000310317;ENST00000392826;ENST00000461735	T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27	5.29	5.29	0.74685	Bicarbonate transporter, C-terminal (1);	0.211754	0.41294	D	0.000916	T	0.78923	0.4360	M	0.73372	2.23	0.40710	D	0.982567	B;B;B	0.34290	0.393;0.393;0.447	B;B;B	0.40329	0.312;0.219;0.326	T	0.77413	-0.2597	10	0.34782	T	0.22	.	13.4146	0.60961	0.0:0.1576:0.8424:0.0	.	982;977;991	F8W682;P04920-2;P04920	.;.;B3A2_HUMAN	M	991;991;909;982;977	ENSP00000419412:V991M;ENSP00000405600:V991M;ENSP00000311402:V909M;ENSP00000376571:V982M;ENSP00000419164:V977M	ENSP00000311402:V909M	V	+	1	0	SLC4A2	150402785	0.013000	0.17824	1.000000	0.80357	0.997000	0.91878	0.192000	0.17096	2.756000	0.94617	0.561000	0.74099	GTG		0.582	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1	NM_003040		A	150771852	G	A	150771852	3	1	819	1	0	0	0	0	1	0	0	0	14660	1377	48	2	3041	2	SLC4A2	7	150771852	Missense_Mutation	SNP	G	TCGA-Y8-A897-01A-11D-A35Z-10	150562875	150771852	8366811	24	49249											
PTK2	5747	hgsc.bcm.edu	37	8	141669756	141669756	+	Silent	SNP	A	A	G			TCGA-Y8-A897-01A-11D-A35Z-10	TCGA-Y8-A897-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a18fd0a9-7914-410c-8f2f-0b8c86803b88	56e7a4a9-632d-45d1-a1b1-f3ed4e689c9e	g.chr8:141669756A>G	ENST00000522684.1	-	32	3197	c.2968T>C	c.(2968-2970)Ttg>Ctg	p.L990L	PTK2_ENST00000521059.1_Silent_p.L990L|PTK2_ENST00000522950.1_3'UTR|PTK2_ENST00000340930.3_Silent_p.L1003L|PTK2_ENST00000517712.1_Silent_p.L53L|PTK2_ENST00000430260.2_Silent_p.L300L|PTK2_ENST00000517887.1_Silent_p.L1034L|PTK2_ENST00000538769.1_Silent_p.L658L|PTK2_ENST00000535192.1_Silent_p.L944L|PTK2_ENST00000519419.1_Silent_p.L1034L|PTK2_ENST00000519465.1_Silent_p.L618L|PTK2_ENST00000395218.2_Silent_p.L1003L	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	990	Interaction with ARHGEF28. {ECO:0000250}.|Interaction with TGFB1I1.				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)			TCAGAGTTCAATAGCTTCTGT	0.418																																																0													111	95	101					8																	141669756		2203	4300	6503	SO:0001819	synonymous_variant	5747			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.2968T>C	chr8.hg19:g.141669756A>G			B4E2N6|F5H4S4|Q14291|Q9UD85	Silent	SNP	ENST00000522684.1	hg19	CCDS6381.1	.	.	.	.	.	.	.	.	.	.	A	7.471	0.646717	0.14516	.	.	ENSG00000169398	ENST00000519654	.	.	.	5.75	-0.279	0.12890	.	.	.	.	.	T	0.58192	0.2105	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53251	-0.8465	4	.	.	.	.	11.0584	0.47933	0.3482:0.0:0.6518:0.0	.	.	.	.	T	954	.	.	I	-	2	0	PTK2	141738938	1.000000	0.71417	0.967000	0.41034	0.939000	0.58152	1.934000	0.40163	-0.104000	0.12154	-0.256000	0.11100	ATT		0.418	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378054.5	NM_005607		G	141669756	A	G	141669756	2	3	819	1	0	0	0	0	0	0	0	1	12768	98	4	3		3	PTK2	8	141669756	Silent	SNP	A	TCGA-Y8-A897-01A-11D-A35Z-10		141669756	4694266	25	49250											
GAPVD1	26130	hgsc.bcm.edu	37	9	128116938	128116939	+	Frame_Shift_Ins	INS	-	-	A			TCGA-Y8-A897-01A-11D-A35Z-10	TCGA-Y8-A897-10A-01D-A35Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a18fd0a9-7914-410c-8f2f-0b8c86803b88	56e7a4a9-632d-45d1-a1b1-f3ed4e689c9e	g.chr9:128116938_128116939insA	ENST00000495955.1	+	24	3919_3920	c.3629_3630insA	c.(3628-3633)agagccfs	p.A1211fs	GAPVD1_ENST00000394083.2_Frame_Shift_Ins_p.A1145fs|GAPVD1_ENST00000470056.1_Frame_Shift_Ins_p.A1166fs|GAPVD1_ENST00000297933.6_Frame_Shift_Ins_p.A1193fs|GAPVD1_ENST00000312123.9_Frame_Shift_Ins_p.A1172fs|GAPVD1_ENST00000394104.2_Frame_Shift_Ins_p.A1211fs|GAPVD1_ENST00000394105.2_Frame_Shift_Ins_p.A1220fs|GAPVD1_ENST00000265956.4_Frame_Shift_Ins_p.A1185fs			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	1211					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						TTTAGAAAAAGAGCCCCATATA	0.386																																																0																																										SO:0001589	frameshift_variant	26130				CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.3630dupA	chr9.hg19:g.128116939_128116939dupA	ENSP00000419063:p.Ala1211fs		A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Frame_Shift_Ins	INS	ENST00000495955.1	hg19																																																																																					0.386	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1			A	128116939	-	A	128116938	7	5	819	1	0	1	1	0	0	0	0	0	6241	942	33	0	3742	0	GAPVD1	9	128116938	Frame_Shift_Ins	INS	-	TCGA-Y8-A897-01A-11D-A35Z-10		128116938	13096493	26	49251	531	2									
GAPVD1	26130	hgsc.bcm.edu	37	9	128116940	128116940	+	Missense_Mutation	SNP	G	G	A			TCGA-Y8-A897-01A-11D-A35Z-10	TCGA-Y8-A897-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a18fd0a9-7914-410c-8f2f-0b8c86803b88	56e7a4a9-632d-45d1-a1b1-f3ed4e689c9e	g.chr9:128116940G>A	ENST00000495955.1	+	24	3921	c.3631G>A	c.(3631-3633)Gcc>Acc	p.A1211T	GAPVD1_ENST00000394083.2_Missense_Mutation_p.A1145T|GAPVD1_ENST00000470056.1_Missense_Mutation_p.A1166T|GAPVD1_ENST00000297933.6_Missense_Mutation_p.A1193T|GAPVD1_ENST00000312123.9_Missense_Mutation_p.A1172T|GAPVD1_ENST00000394104.2_Missense_Mutation_p.A1211T|GAPVD1_ENST00000394105.2_Missense_Mutation_p.A1220T|GAPVD1_ENST00000265956.4_Missense_Mutation_p.A1185T			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	1211					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						TAGAAAAAGAGCCCCATATAT	0.383																																																0													86	88	87					9																	128116940		2203	4300	6503	SO:0001583	missense	26130				CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.3631G>A	chr9.hg19:g.128116940G>A	ENSP00000419063:p.Ala1211Thr		A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Missense_Mutation	SNP	ENST00000495955.1	hg19		.	.	.	.	.	.	.	.	.	.	G	27.5	4.841442	0.91197	.	.	ENSG00000165219	ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000297933;ENST00000312123	.	.	.	6.08	5.19	0.71726	.	0.044268	0.85682	N	0.000000	T	0.58337	0.2115	L	0.39020	1.185	0.80722	D	1	B;P;B;B;B;P	0.40834	0.333;0.73;0.43;0.298;0.298;0.672	B;B;P;P;P;P	0.48334	0.28;0.147;0.471;0.471;0.471;0.574	T	0.62364	-0.6870	9	0.72032	D	0.01	.	14.2482	0.66001	0.0706:0.0:0.9294:0.0	.	1211;226;1166;1172;1193;1220	Q14C86;B3KTX2;Q14C86-3;Q14C86-4;Q14C86-2;Q14C86-6	GAPD1_HUMAN;.;.;.;.;.	T	1166;1220;1211;1185;1145;1211;1193;1172	.	ENSP00000265956:A1185T	A	+	1	0	GAPVD1	127156761	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.562000	0.73960	1.589000	0.49982	0.591000	0.81541	GCC		0.383	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1			A	128116940	G	A	128116940	3	1	819	1	0	0	0	0	1	0	0	0	6241	971	34	2	3744	2	GAPVD1	9	128116940	Missense_Mutation	SNP	G	TCGA-Y8-A897-01A-11D-A35Z-10	2	128116940	13096491	27	49252	531	2									
LAMC3	10319	hgsc.bcm.edu	37	9	133884789	133884789	+	Missense_Mutation	SNP	C	C	A			TCGA-Y8-A897-01A-11D-A35Z-10	TCGA-Y8-A897-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a18fd0a9-7914-410c-8f2f-0b8c86803b88	56e7a4a9-632d-45d1-a1b1-f3ed4e689c9e	g.chr9:133884789C>A	ENST00000361069.4	+	1	321	c.188C>A	c.(187-189)cCc>cAc	p.P63H	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	63	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)		GACTTCTGTCCCCACGTgggc	0.751																																																0													2	3	3					9																	133884789		1613	3200	4813	SO:0001583	missense	10319			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.188C>A	chr9.hg19:g.133884789C>A	ENSP00000354360:p.Pro63His		B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	ENST00000361069.4	hg19	CCDS6938.1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.205952	0.58234	.	.	ENSG00000050555	ENST00000361069;ENST00000355048;ENST00000320021	T	0.74947	-0.89	3.94	2.85	0.33270	Laminin, N-terminal (3);	0.116020	0.64402	D	0.000020	T	0.73590	0.3606	L	0.50333	1.59	0.34047	D	0.655667	D	0.55800	0.973	P	0.59115	0.852	T	0.76305	-0.3008	10	0.36615	T	0.2	.	3.1416	0.06457	0.0:0.5194:0.0:0.4806	.	63	Q9Y6N6	LAMC3_HUMAN	H	63	ENSP00000354360:P63H	ENSP00000325873:P63H	P	+	2	0	LAMC3	132874610	1.000000	0.71417	0.987000	0.45799	0.144000	0.21451	3.770000	0.55310	1.709000	0.51313	0.313000	0.20887	CCC		0.751	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		A	133884789	C	A	133884789	3	1	819	1	0	0	0	0	1	0	0	0	8618	623	22	4	190	4	LAMC3	9	133884789	Missense_Mutation	SNP	C	TCGA-Y8-A897-01A-11D-A35Z-10	5767849	133884789	7328642	28	49253											
PTEN	5728	hgsc.bcm.edu	37	10	89624274	89624274	+	Frame_Shift_Del	DEL	T	T	-	rs587782187		TCGA-Y8-A897-01A-11D-A35Z-10	TCGA-Y8-A897-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a18fd0a9-7914-410c-8f2f-0b8c86803b88	56e7a4a9-632d-45d1-a1b1-f3ed4e689c9e	g.chr10:89624274delT	ENST00000371953.3	+	1	1405	c.48delT	c.(46-48)tatfs	p.Y16fs	KLLN_ENST00000445946.3_5'Flank	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	16	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		Y -> C (loss of phosphatase activity towards Ins(1,3,4,5)P4; retains the 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.?(13)|p.Y16*(2)|p.Y16fs*1(2)|p.R15fs*23(1)|p.R14fs*26(1)|p.Y16fs*21(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)		AAAGGAGATATCAAGAGGATG	0.473		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	phosphatase and tensin homolog gene		"L, E, M, O"	59	Whole gene deletion(37)|Unknown(13)|Deletion - Frameshift(5)|Substitution - Nonsense(2)|Deletion - In frame(1)|Insertion - Frameshift(1)	prostate(14)|central_nervous_system(12)|skin(7)|endometrium(6)|lung(6)|ovary(3)|haematopoietic_and_lymphoid_tissue(2)|bone(2)|breast(2)|biliary_tract(1)|stomach(1)|soft_tissue(1)|urinary_tract(1)|kidney(1)											184	176	179					10																	89624274		2203	4300	6503	SO:0001589	frameshift_variant	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.48delT	chr10.hg19:g.89624274delT	ENSP00000361021:p.Tyr16fs		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL	ENST00000371953.3	hg19	CCDS31238.1																																																																																				0.473	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		-	89624274	T	-	89624274	7	5	819	1	0	1	0	1	0	0	0	0	12743	1442	50	0	50	0	PTEN	10	89624274	Frame_Shift_Del	DEL	T	TCGA-Y8-A897-01A-11D-A35Z-10		89624274	45910473	29	49254											
OR51D1	390038	hgsc.bcm.edu	37	11	4661150	4661150	+	Missense_Mutation	SNP	C	C	A			TCGA-Y8-A897-01A-11D-A35Z-10	TCGA-Y8-A897-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a18fd0a9-7914-410c-8f2f-0b8c86803b88	56e7a4a9-632d-45d1-a1b1-f3ed4e689c9e	g.chr11:4661150C>A	ENST00000357605.2	+	1	206	c.130C>A	c.(130-132)Ctg>Atg	p.L44M		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, 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)			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)		GGCTTTCCCACTGTGTTTTAT	0.527																																																0													180	145	157					11																	4661150		2201	4298	6499	SO:0001583	missense	390038			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.130C>A	chr11.hg19:g.4661150C>A	ENSP00000350222:p.Leu44Met		B9EIK4	Missense_Mutation	SNP	ENST00000357605.2	hg19	CCDS31357.1	.	.	.	.	.	.	.	.	.	.	C	9.503	1.103608	0.20632	.	.	ENSG00000197428	ENST00000357605	T	0.17054	2.3	4.84	1.95	0.26073	.	0.000000	0.35320	N	0.003294	T	0.30634	0.0771	L	0.49256	1.55	0.31172	N	0.703044	D	0.89917	1.0	D	0.83275	0.996	T	0.17899	-1.0354	10	0.87932	D	0	.	8.0546	0.30598	0.0:0.6497:0.0:0.3503	.	44	Q8NGF3	O51D1_HUMAN	M	44	ENSP00000350222:L44M	ENSP00000350222:L44M	L	+	1	2	OR51D1	4617726	0.006000	0.16342	0.240000	0.24138	0.011000	0.07611	-0.039000	0.12124	0.335000	0.23614	-0.214000	0.12660	CTG		0.527	OR51D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385956.1	NM_001004751		A	4661150	C	A	4661150	3	1	819	1	0	0	0	0	1	0	0	0	11095	564	20	4	132	4	OR51D1	11	4661150	Missense_Mutation	SNP	C	TCGA-Y8-A897-01A-11D-A35Z-10		4661150	130345366	30	49255											
OR52E2	119678	hgsc.bcm.edu	37	11	5080608	5080609	+	Missense_Mutation	DNP	GC	GC	AT	rs369925067		TCGA-Y8-A897-01A-11D-A35Z-10	TCGA-Y8-A897-10A-01D-A35Z-10	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a18fd0a9-7914-410c-8f2f-0b8c86803b88	56e7a4a9-632d-45d1-a1b1-f3ed4e689c9e	g.chr11:5080608_5080609GC>AT	ENST00000321522.2	-	1	248_249	c.249_250GC>AT	c.(247-252)atGCtt>atATtt	p.83_84ML>IF		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	83						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)		AAGATTCCAAGCATCTTAGGGA	0.49																																																0																																										SO:0001583	missense	119678			AB065800	CCDS31371.1	11p15.4	2012-08-09			ENSG00000176787	ENSG00000176787		"GPCR / Class A : Olfactory receptors"	14769	protein-coding gene	gene with protein product							Standard	NM_001005164		Approved		uc010qyw.2	Q8NGJ4	OTTHUMG00000066608	ENST00000321522.2:c.249_250delinsAT	chr11.hg19:g.5080608_5080609delinsAT	ENSP00000322088:p.M83_L84delinsIF			Missense_Mutation	SNP	ENST00000321522.2	hg19	CCDS31371.1																																																																																				0.49	OR52E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142815.1	NM_001005164		AT	5080609	GC	AT	5080608	3	1	819	1	0	0	0	0	1	0	0	0	11117	971	34	2	730	2	OR52E2	11	5080608	Missense_Mutation	DNP	GC	TCGA-Y8-A897-01A-11D-A35Z-10	419458	5080608	129925908	31	49256											
MYBPC3	4607	hgsc.bcm.edu	37	11	47373013	47373013	+	Silent	SNP	T	T	C			TCGA-Y8-A897-01A-11D-A35Z-10	TCGA-Y8-A897-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a18fd0a9-7914-410c-8f2f-0b8c86803b88	56e7a4a9-632d-45d1-a1b1-f3ed4e689c9e	g.chr11:47373013T>C	ENST00000545968.1	-	2	123	c.69A>G	c.(67-69)gcA>gcG	p.A23A	MYBPC3_ENST00000399249.2_Silent_p.A23A|MYBPC3_ENST00000256993.4_Silent_p.A23A	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	23					cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		CAGGGCTGCCTGCGGCCACTT	0.662																																																0													16	19	18					11																	47373013		2102	4223	6325	SO:0001819	synonymous_variant	4607			X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7551	protein-coding gene	gene with protein product		600958	"myosin-binding protein C, cardiac"	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.69A>G	chr11.hg19:g.47373013T>C			A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Silent	SNP	ENST00000545968.1	hg19	CCDS53621.1																																																																																				0.662	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3			C	47373013	T	C	47373013	2	2	819	1	0	0	0	0	0	0	0	1	10015	1567	55	3		3	MYBPC3	11	47373013	Silent	SNP	T	TCGA-Y8-A897-01A-11D-A35Z-10	42292405	47373013	87633503	32	49257											
GRM5	2915	hgsc.bcm.edu	37	11	88300498	88300498	+	Missense_Mutation	SNP	A	A	T			TCGA-Y8-A897-01A-11D-A35Z-10	TCGA-Y8-A897-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a18fd0a9-7914-410c-8f2f-0b8c86803b88	56e7a4a9-632d-45d1-a1b1-f3ed4e689c9e	g.chr11:88300498A>T	ENST00000305447.4	-	7	2502	c.2353T>A	c.(2353-2355)Tgg>Agg	p.W785R	GRM5_ENST00000455756.2_Missense_Mutation_p.W785R|GRM5_ENST00000305432.5_Missense_Mutation_p.W785R|GRM5_ENST00000393297.1_Missense_Mutation_p.W785R|GRM5_ENST00000418177.2_Missense_Mutation_p.W785R	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	785					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)	AAAGCTAGCCATATAATGCAG	0.468																																																0													168	152	158					11																	88300498		2201	4299	6500	SO:0001583	missense	2915			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.2353T>A	chr11.hg19:g.88300498A>T	ENSP00000306138:p.Trp785Arg		Q6J164	Missense_Mutation	SNP	ENST00000305447.4	hg19	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	A	19.49	3.838346	0.71373	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.92299	-3.01;-3.01;-3.01;-3.01;-3.01	5.58	5.58	0.84498	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.97402	0.9150	H	0.96239	3.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.98698	1.0699	9	.	.	.	.	15.7446	0.77929	1.0:0.0:0.0:0.0	.	785;785	P41594-2;P41594	.;GRM5_HUMAN	R	785	ENSP00000402912:W785R;ENSP00000405690:W785R;ENSP00000305905:W785R;ENSP00000306138:W785R;ENSP00000376975:W785R	.	W	-	1	0	GRM5	87940146	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	9.315000	0.96313	2.133000	0.65898	0.459000	0.35465	TGG		0.468	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		T	88300498	A	T	88300498	3	4	819	1	0	0	0	0	1	0	0	0	6802	217	8	5	1297	5	GRM5	11	88300498	Missense_Mutation	SNP	A	TCGA-Y8-A897-01A-11D-A35Z-10	40927485	88300498	46706018	33	49258											
MAML2	84441	hgsc.bcm.edu	37	11	95826314	95826315	+	Missense_Mutation	DNP	CC	CC	GA	rs369905258		TCGA-Y8-A897-01A-11D-A35Z-10	TCGA-Y8-A897-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a18fd0a9-7914-410c-8f2f-0b8c86803b88	56e7a4a9-632d-45d1-a1b1-f3ed4e689c9e	g.chr11:95826314_95826315CC>GA	ENST00000524717.1	-	2	2164_2165	c.880_881GG>TC	c.(880-882)GGa>TCa	p.G294S		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	294					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				AGGGTCGTCTCCGTACCTATTA	0.48			T	"MECT1, CRTC3"	salivary gland mucoepidermoid																																		Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	0																																										SO:0001583	missense	84441			AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"mastermind (Drosophila)-like 2"			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.880_881delinsGA	chr11.hg19:g.95826314_95826315delinsGA	ENSP00000434552:p.Gly294Ser		A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Missense_Mutation|Nonsense_Mutation	SNP	ENST00000524717.1	hg19	CCDS44714.1																																																																																				0.48	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1			GA	95826315	CC	GA	95826314	3	3	819	1	0	0	0	0	1	0	0	0	9208	855	30	4	2605	4	MAML2	11	95826314	Missense_Mutation	DNP	CC	TCGA-Y8-A897-01A-11D-A35Z-10	7525816	95826314	39180202	34	49259											
ITGA5	3678	hgsc.bcm.edu	37	12	54801981	54801981	+	Missense_Mutation	SNP	A	A	T			TCGA-Y8-A897-01A-11D-A35Z-10	TCGA-Y8-A897-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a18fd0a9-7914-410c-8f2f-0b8c86803b88	56e7a4a9-632d-45d1-a1b1-f3ed4e689c9e	g.chr12:54801981A>T	ENST00000293379.4	-	7	991	c.730T>A	c.(730-732)Tct>Act	p.S244T	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)	244					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						GGGTAATAAGATTCTGCAATC	0.547																																																0													81	78	79					12																	54801981		2203	4300	6503	SO:0001583	missense	3678				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.730T>A	chr12.hg19:g.54801981A>T	ENSP00000293379:p.Ser244Thr		Q96HA5	Missense_Mutation	SNP	ENST00000293379.4	hg19	CCDS8880.1	.	.	.	.	.	.	.	.	.	.	A	8.780	0.928036	0.18131	.	.	ENSG00000161638	ENST00000293379	T	0.22134	1.97	5.13	5.13	0.70059	.	0.062472	0.64402	D	0.000004	T	0.11024	0.0269	N	0.11255	0.115	0.39220	D	0.963471	B	0.23377	0.084	B	0.18871	0.023	T	0.15093	-1.0449	10	0.35671	T	0.21	.	9.438	0.38650	0.8211:0.1789:0.0:0.0	.	244	P08648	ITA5_HUMAN	T	244	ENSP00000293379:S244T	ENSP00000293379:S244T	S	-	1	0	ITGA5	53088248	0.985000	0.35326	0.904000	0.35570	0.413000	0.31143	2.610000	0.46325	2.075000	0.62263	0.391000	0.25812	TCT		0.547	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406174.1			T	54801981	A	T	54801981	3	4	819	1	0	0	0	0	1	0	0	0	7881	333	12	5	2515	5	ITGA5	12	54801981	Missense_Mutation	SNP	A	TCGA-Y8-A897-01A-11D-A35Z-10		54801981	79049914	35	49260											
BAZ2A	11176	hgsc.bcm.edu	37	12	56992544	56992544	+	Missense_Mutation	SNP	G	G	A			TCGA-Y8-A897-01A-11D-A35Z-10	TCGA-Y8-A897-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a18fd0a9-7914-410c-8f2f-0b8c86803b88	56e7a4a9-632d-45d1-a1b1-f3ed4e689c9e	g.chr12:56992544G>A	ENST00000551812.1	-	29	5769	c.5576C>T	c.(5575-5577)gCg>gTg	p.A1859V	BAZ2A_ENST00000179765.5_Missense_Mutation_p.A1827V|BAZ2A_ENST00000549884.1_Missense_Mutation_p.A1857V|BAZ2A_ENST00000379441.3_Missense_Mutation_p.A1829V|BAZ2A_ENST00000553222.1_5'Flank	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1859	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				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						GGCATCAGCCGCAAACTCCTC	0.567																																																0													37	39	38					12																	56992544		1979	4155	6134	SO:0001583	missense	11176			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.5576C>T	chr12.hg19:g.56992544G>A	ENSP00000446880:p.Ala1859Val		B3KN66|O00536|O15030|Q68DI8|Q96H26	Missense_Mutation	SNP	ENST00000551812.1	hg19	CCDS44924.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.553834	0.86231	.	.	ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549787;ENST00000549884	T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61	5.85	5.85	0.93711	Bromodomain (6);Bromodomain, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.38081	0.1027	N	0.20445	0.575	0.80722	D	1	D;P;P;D	0.89917	1.0;0.851;0.877;1.0	D;P;P;D	0.91635	0.995;0.682;0.848;0.999	T	0.02781	-1.1111	10	0.02654	T	1	-13.7142	19.3175	0.94220	0.0:0.0:1.0:0.0	.	1857;1855;1859;1832	F8VU39;Q9UIF9-3;Q9UIF9;Q9UIF9-2	.;.;BAZ2A_HUMAN;.	V	1829;1827;1859;791;1857	ENSP00000368754:A1829V;ENSP00000179765:A1827V;ENSP00000446880:A1859V;ENSP00000448760:A791V;ENSP00000447941:A1857V	ENSP00000179765:A1827V	A	-	2	0	BAZ2A	55278811	1.000000	0.71417	0.995000	0.50966	0.891000	0.51852	7.370000	0.79589	2.941000	0.99782	0.655000	0.94253	GCG		0.567	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408561.1	NM_013449		A	56992544	G	A	56992544	3	1	819	1	0	0	0	0	1	0	0	0	1331	1087	38	1	145	1	BAZ2A	12	56992544	Missense_Mutation	SNP	G	TCGA-Y8-A897-01A-11D-A35Z-10	2190563	56992544	76859351	36	49261											
ATP6V0A2	23545	hgsc.bcm.edu	37	12	124236887	124236887	+	Nonsense_Mutation	SNP	C	C	T			TCGA-Y8-A897-01A-11D-A35Z-10	TCGA-Y8-A897-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a18fd0a9-7914-410c-8f2f-0b8c86803b88	56e7a4a9-632d-45d1-a1b1-f3ed4e689c9e	g.chr12:124236887C>T	ENST00000330342.3	+	17	2361	c.2113C>T	c.(2113-2115)Caa>Taa	p.Q705*	ATP6V0A2_ENST00000544833.1_5'Flank	NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	705					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|immune response (GO:0006955)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		GCTGGGAAGCCAAGATATAGA	0.403																																																0													128	126	127					12																	124236887		2203	4300	6503	SO:0001587	stop_gained	23545			AF112972	CCDS9254.1	12q24.31	2010-04-21	2006-01-20		ENSG00000185344	ENSG00000185344		"ATPases / V-type"	18481	protein-coding gene	gene with protein product	"infantile malignant osteopetrosis"	611716	"infantile malignant osteopetrosis", "ATPase, H+ transporting, lysosomal V0 subunit a isoform 2", "ATPase, H+ transporting, lysosomal V0 subunit A2"			2247090, 18157129	Standard	NM_012463		Approved	TJ6, a2, TJ6s, TJ6M, ATP6a2, J6B7, ATP6N1D, Vph1, Stv1	uc001ufr.3	Q9Y487	OTTHUMG00000168723	ENST00000330342.3:c.2113C>T	chr12.hg19:g.124236887C>T	ENSP00000332247:p.Gln705*		A8K026|Q6NUM0	Nonsense_Mutation	SNP	ENST00000330342.3	hg19	CCDS9254.1	.	.	.	.	.	.	.	.	.	.	C	40	8.390644	0.98791	.	.	ENSG00000185344	ENST00000330342	.	.	.	5.76	4.86	0.63082	.	0.048315	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	-9.4353	16.4274	0.83818	0.0:0.8683:0.1317:0.0	.	.	.	.	X	705	.	ENSP00000332247:Q705X	Q	+	1	0	ATP6V0A2	122802840	0.994000	0.37717	0.333000	0.25482	0.718000	0.41266	3.320000	0.51991	1.409000	0.46915	0.655000	0.94253	CAA		0.403	ATP6V0A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400765.2	NM_012463		T	124236887	C	T	124236887	4	4	819	1	0	0	0	0	0	1	0	0	1169	595	21	2	2179	2	ATP6V0A2	12	124236887	Nonsense_Mutation	SNP	C	TCGA-Y8-A897-01A-11D-A35Z-10	67244343	124236887	9615008	37	49262											
HECTD1	25831	hgsc.bcm.edu	37	14	31637663	31637663	+	Missense_Mutation	SNP	G	G	A			TCGA-Y8-A897-01A-11D-A35Z-10	TCGA-Y8-A897-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a18fd0a9-7914-410c-8f2f-0b8c86803b88	56e7a4a9-632d-45d1-a1b1-f3ed4e689c9e	g.chr14:31637663G>A	ENST00000399332.1	-	10	1951	c.1463C>T	c.(1462-1464)cCa>cTa	p.P488L	HECTD1_ENST00000553700.1_Missense_Mutation_p.P488L	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	488					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)		TTTATTAACTGGACACATCCA	0.318																																																0													173	166	168					14																	31637663		1802	4072	5874	SO:0001583	missense	25831			AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"Ankyrin repeat domain containing"	20157	protein-coding gene	gene with protein product			"HECT domain containing 1"			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.1463C>T	chr14.hg19:g.31637663G>A	ENSP00000382269:p.Pro488Leu		D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	hg19	CCDS41939.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.688626	0.88639	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000556224	T;T;T	0.71579	1.04;1.04;-0.58	5.23	5.23	0.72850	Ankyrin repeat-containing domain (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.80281	0.4594	L	0.43152	1.355	0.80722	D	1	P;D	0.71674	0.702;0.998	B;D	0.73708	0.177;0.981	T	0.81534	-0.0889	10	0.66056	D	0.02	-12.7472	19.1631	0.93543	0.0:0.0:1.0:0.0	.	488;488	D3DS86;Q9ULT8	.;HECD1_HUMAN	L	488	ENSP00000450697:P488L;ENSP00000382269:P488L;ENSP00000452015:P488L	ENSP00000261312:P488L	P	-	2	0	HECTD1	30707414	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.568000	0.98166	2.585000	0.87301	0.467000	0.42956	CCA		0.318	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			A	31637663	G	A	31637663	3	1	819	1	0	0	0	0	1	0	0	0	7041	1348	47	2	6505	2	HECTD1	14	31637663	Missense_Mutation	SNP	G	TCGA-Y8-A897-01A-11D-A35Z-10		31637663	75711877	38	49263											
NAA30	122830	hgsc.bcm.edu	37	14	57857993	57857993	+	Silent	SNP	G	G	C			TCGA-Y8-A897-01A-11D-A35Z-10	TCGA-Y8-A897-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a18fd0a9-7914-410c-8f2f-0b8c86803b88	56e7a4a9-632d-45d1-a1b1-f3ed4e689c9e	g.chr14:57857993G>C	ENST00000556492.1	+	2	472	c.318G>C	c.(316-318)ctG>ctC	p.L106L	NAA30_ENST00000554703.1_Intron|NAA30_ENST00000555166.1_Intron	NM_001011713.2	NP_001011713.2	Q147X3	NAA30_HUMAN	N(alpha)-acetyltransferase 30, NatC catalytic subunit	106					metabolic process (GO:0008152)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)	peptide alpha-N-acetyltransferase activity (GO:0004596)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	13						GCAAGGTCCTGAGCGTAGCAG	0.687																																																0													17	20	19					14																	57857993		2144	4189	6333	SO:0001819	synonymous_variant	122830			AK092674	CCDS32088.1	14q22.2	2010-05-07	2010-01-14	2010-01-14		ENSG00000139977	2.3.1.88	"N(alpha)-acetyltransferase subunits"	19844	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 35", "N-acetyltransferase 12", "N-acetyltransferase 12 (GCN5-related, putative)"	C14orf35, NAT12		19660095	Standard	NM_001011713		Approved	FLJ35355, MAK3, Mak3p	uc001xcx.4	Q147X3		ENST00000556492.1:c.318G>C	chr14.hg19:g.57857993G>C			Q0IIN2	Silent	SNP	ENST00000556492.1	hg19	CCDS32088.1																																																																																				0.687	NAA30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412925.1	NM_001011713		C	57857993	G	C	57857993	2	2	819	1	0	0	0	0	0	0	0	1	10124	1277	45	4		4	NAA30	14	57857993	Silent	SNP	G	TCGA-Y8-A897-01A-11D-A35Z-10	26220330	57857993	49491547	39	49264											
ZFYVE1	53349	hgsc.bcm.edu	37	14	73442299	73442299	+	Missense_Mutation	SNP	T	T	C			TCGA-Y8-A897-01A-11D-A35Z-10	TCGA-Y8-A897-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a18fd0a9-7914-410c-8f2f-0b8c86803b88	56e7a4a9-632d-45d1-a1b1-f3ed4e689c9e	g.chr14:73442299T>C	ENST00000556143.1	-	9	2486	c.1766A>G	c.(1765-1767)cAg>cGg	p.Q589R	ZFYVE1_ENST00000553891.1_Missense_Mutation_p.Q589R|ZFYVE1_ENST00000318876.5_Missense_Mutation_p.Q575R|ZFYVE1_ENST00000394207.2_Missense_Mutation_p.Q174R|ZFYVE1_ENST00000554145.1_5'UTR|ZFYVE1_ENST00000555072.1_Missense_Mutation_p.Q174R	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	589					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)		AGGGGCGATCTGGTCTGTCAG	0.602																																																0													117	101	106					14																	73442299		2203	4300	6503	SO:0001583	missense	53349			AF251025	CCDS9811.1, CCDS41969.1, CCDS61498.1	14q24.2	2014-06-13	2003-02-28	2003-03-07		ENSG00000165861		"Zinc fingers, FYVE domain containing"	13180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 172"	605471	"zinc finger protein, subfamily 2A (FYVE domain containing), 1"	ZNFN2A1		11024279, 11256955	Standard	NM_021260		Approved	DFCP1, KIAA1589, TAFF1, PPP1R172	uc001xnm.3	Q9HBF4		ENST00000556143.1:c.1766A>G	chr14.hg19:g.73442299T>C	ENSP00000450742:p.Gln589Arg		J3KNL9|Q8WYX7|Q96K57|Q9BXP9|Q9HCI3	Missense_Mutation	SNP	ENST00000556143.1	hg19	CCDS9811.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.232219	0.79688	.	.	ENSG00000165861	ENST00000553891;ENST00000318876;ENST00000556143;ENST00000394207;ENST00000555072	T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-1.0	6.17	6.17	0.99709	Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.75309	0.3832	M	0.66506	2.035	0.80722	D	1	P;B	0.39071	0.658;0.417	B;B	0.38954	0.286;0.075	T	0.77120	-0.2705	10	0.54805	T	0.06	-28.7588	16.8222	0.85835	0.0:0.0:0.0:1.0	.	589;589	G3V5N8;Q9HBF4	.;ZFYV1_HUMAN	R	589;575;589;174;174	ENSP00000452442:Q589R;ENSP00000326921:Q575R;ENSP00000450742:Q589R;ENSP00000377757:Q174R;ENSP00000452232:Q174R	ENSP00000326921:Q589R	Q	-	2	0	ZFYVE1	72512052	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	CAG		0.602	ZFYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413172.1	NM_021260		C	73442299	T	C	73442299	3	2	819	1	0	0	0	0	1	0	0	0	17668	1580	55	3	583	3	ZFYVE1	14	73442299	Missense_Mutation	SNP	T	TCGA-Y8-A897-01A-11D-A35Z-10	15584306	73442299	33907241	40	49265											
KIF26A	26153	hgsc.bcm.edu	37	14	104641420	104641420	+	Frame_Shift_Del	DEL	C	C	-			TCGA-Y8-A897-01A-11D-A35Z-10	TCGA-Y8-A897-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a18fd0a9-7914-410c-8f2f-0b8c86803b88	56e7a4a9-632d-45d1-a1b1-f3ed4e689c9e	g.chr14:104641420delC	ENST00000423312.2	+	12	2295	c.2295delC	c.(2293-2295)gacfs	p.D765fs	KIF26A_ENST00000315264.7_Frame_Shift_Del_p.D626fs	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	765					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)		TGGCCCTGGACCCCGACCGCA	0.726																																																0													20	24	23					14																	104641420		2039	4175	6214	SO:0001589	frameshift_variant	26153			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.2295delC	chr14.hg19:g.104641420delC	ENSP00000388241:p.Asp765fs		Q8TAZ7|Q96GK3|Q9UFL3	Frame_Shift_Del	DEL	ENST00000423312.2	hg19	CCDS45171.1																																																																																				0.726	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1			-	104641420	C	-	104641420	7	5	819	1	0	1	0	1	0	0	0	0	8296	506	18	0	2341	0	KIF26A	14	104641420	Frame_Shift_Del	DEL	C	TCGA-Y8-A897-01A-11D-A35Z-10	31199121	104641420	2708120	41	49266											
SSTR5	6755	hgsc.bcm.edu	37	16	1129708	1129708	+	Silent	SNP	C	C	T			TCGA-Y8-A897-01A-11D-A35Z-10	TCGA-Y8-A897-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a18fd0a9-7914-410c-8f2f-0b8c86803b88	56e7a4a9-632d-45d1-a1b1-f3ed4e689c9e	g.chr16:1129708C>T	ENST00000293897.4	+	1	928	c.840C>T	c.(838-840)ccC>ccT	p.P280P	SSTR5_ENST00000397547.2_Silent_p.P280P|SSTR5-AS1_ENST00000569832.1_RNA|SSTR5_ENST00000562758.1_Intron	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	280					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cytokinesis (GO:0032467)|regulation of insulin secretion (GO:0050796)|somatostatin signaling pathway (GO:0038170)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	CCCAGGAGCCCGCCTCCGCCG	0.627																																																0													97	100	99					16																	1129708		2194	4297	6491	SO:0001819	synonymous_variant	6755			D16827	CCDS10429.1	16p13.3	2012-08-08			ENSG00000162009	ENSG00000162009		"GPCR / Class A : Somatostatin receptors"	11334	protein-coding gene	gene with protein product		182455				7607700	Standard	NM_001053		Approved		uc021taf.1	P35346	OTTHUMG00000047842	ENST00000293897.4:c.840C>T	chr16.hg19:g.1129708C>T			P34988|Q541E0|Q9UJI5	Silent	SNP	ENST00000293897.4	hg19	CCDS10429.1																																																																																				0.627	SSTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420836.1			T	1129708	C	T	1129708	2	4	819	1	0	0	0	0	0	0	0	1	15206	639	23	1		1	SSTR5	16	1129708	Silent	SNP	C	TCGA-Y8-A897-01A-11D-A35Z-10		1129708	89225045	42	49267											
GRIN2A	2903	hgsc.bcm.edu	37	16	10031887	10031887	+	Silent	SNP	G	G	A			TCGA-Y8-A897-01A-11D-A35Z-10	TCGA-Y8-A897-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a18fd0a9-7914-410c-8f2f-0b8c86803b88	56e7a4a9-632d-45d1-a1b1-f3ed4e689c9e	g.chr16:10031887G>A	ENST00000396573.2	-	4	1245	c.936C>T	c.(934-936)taC>taT	p.Y312Y	GRIN2A_ENST00000330684.3_Silent_p.Y312Y|GRIN2A_ENST00000566670.1_5'Flank|GRIN2A_ENST00000404927.2_Silent_p.Y312Y|GRIN2A_ENST00000562109.1_Silent_p.Y312Y|GRIN2A_ENST00000396575.2_Silent_p.Y312Y|GRIN2A_ENST00000535259.1_Silent_p.Y155Y	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	312					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)	CCTCGGGGATGTAGGAGAACT	0.577																																																0													73	61	65					16																	10031887		2197	4300	6497	SO:0001819	synonymous_variant	2903				CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.936C>T	chr16.hg19:g.10031887G>A			O00669|Q17RZ6	Silent	SNP	ENST00000396573.2	hg19	CCDS10539.1																																																																																				0.577	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			A	10031887	G	A	10031887	2	1	819	1	0	0	0	0	0	0	0	1	6781	1372	48	2		2	GRIN2A	16	10031887	Silent	SNP	G	TCGA-Y8-A897-01A-11D-A35Z-10	8902179	10031887	80322866	43	49268											
KARS	3735	hgsc.bcm.edu	37	16	75662551	75662551	+	Silent	SNP	C	C	T			TCGA-Y8-A897-01A-11D-A35Z-10	TCGA-Y8-A897-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a18fd0a9-7914-410c-8f2f-0b8c86803b88	56e7a4a9-632d-45d1-a1b1-f3ed4e689c9e	g.chr16:75662551C>T	ENST00000302445.3	-	13	1650	c.1611G>A	c.(1609-1611)ctG>ctA	p.L537L	KARS_ENST00000319410.5_Silent_p.L565L|KARS_ENST00000568378.1_Intron	NM_005548.2	NP_005539.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase	537					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|lysyl-tRNA aminoacylation (GO:0006430)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)|viral process (GO:0016032)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|microtubule cytoskeleton (GO:0015630)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid binding (GO:0016597)|ATP binding (GO:0005524)|lysine-tRNA ligase activity (GO:0004824)|metal ion binding (GO:0046872)|tRNA binding (GO:0000049)			kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	GCCCATATTCCAGGGCAGTAC	0.517																																																0													86	81	82					16																	75662551		2198	4300	6498	SO:0001819	synonymous_variant	3735			AF285758	CCDS10923.1, CCDS45532.1	16q23.1	2014-09-17			ENSG00000065427	ENSG00000065427	6.1.1.6	"Aminoacyl tRNA synthetases / Class II"	6215	protein-coding gene	gene with protein product	"lysine tRNA ligase"	601421	"deafness, autosomal recessive 89"	DFNB89		8812440, 9278442, 23768514	Standard	NM_005548		Approved	KARS2, KARS1	uc002fer.3	Q15046	OTTHUMG00000137609	ENST00000302445.3:c.1611G>A	chr16.hg19:g.75662551C>T			A8MSK1|D3DUK4|O14946|Q96J25|Q9HB23	Silent	SNP	ENST00000302445.3	hg19	CCDS10923.1																																																																																				0.517	KARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269023.1	NM_005548		T	75662551	C	T	75662551	2	4	819	1	0	0	0	0	0	0	0	1	7982	581	21	2		2	KARS	16	75662551	Silent	SNP	C	TCGA-Y8-A897-01A-11D-A35Z-10	65630664	75662551	14692202	44	49269											
RAP1GAP2	23108	hgsc.bcm.edu	37	17	2888281	2888281	+	Missense_Mutation	SNP	C	C	A			TCGA-Y8-A897-01A-11D-A35Z-10	TCGA-Y8-A897-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a18fd0a9-7914-410c-8f2f-0b8c86803b88	56e7a4a9-632d-45d1-a1b1-f3ed4e689c9e	g.chr17:2888281C>A	ENST00000254695.8	+	11	824	c.734C>A	c.(733-735)tCc>tAc	p.S245Y	RAP1GAP2_ENST00000540393.2_Missense_Mutation_p.S226Y|RAP1GAP2_ENST00000366401.4_Missense_Mutation_p.S230Y|RAP1GAP2_ENST00000542807.1_Missense_Mutation_p.S245Y	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	245					negative regulation of neuron projection development (GO:0010977)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|nuclear membrane (GO:0031965)	Rap GTPase activator activity (GO:0046582)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						TTCCAGGCCTCCCAAATGATT	0.423																																																0													154	149	151					17																	2888281		1902	4130	6032	SO:0001583	missense	23108			AB028962	CCDS45573.1, CCDS45574.1	17p13.3	2009-09-14	2009-09-14	2009-09-14		ENSG00000132359			29176	protein-coding gene	gene with protein product			"GTPase activating RANGAP domain-like 4", "GTPase activating Rap/RanGAP domain-like 4"	GARNL4		15632203	Standard	NM_015085		Approved	KIAA1039	uc010ckd.3	Q684P5		ENST00000254695.8:c.734C>A	chr17.hg19:g.2888281C>A	ENSP00000254695:p.Ser245Tyr		B2RTY5|Q684P4|Q6AI00|Q6ZVF0|Q9UPW2	Missense_Mutation	SNP	ENST00000254695.8	hg19	CCDS45573.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.735492	0.69189	.	.	ENSG00000132359	ENST00000254695;ENST00000366401;ENST00000540393;ENST00000542807	D;D;D;D	0.93811	-3.29;-3.29;-3.29;-3.29	4.02	4.02	0.46733	.	0.189194	0.49305	D	0.000149	D	0.96367	0.8815	M	0.81942	2.565	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74023	0.982;0.956	D	0.96644	0.9476	10	0.56958	D	0.05	-15.0803	15.585	0.76475	0.0:1.0:0.0:0.0	.	230;245	Q684P5-2;Q684P5	.;RPGP2_HUMAN	Y	245;230;226;245	ENSP00000254695:S245Y;ENSP00000389824:S230Y;ENSP00000439688:S226Y;ENSP00000444890:S245Y	ENSP00000254695:S245Y	S	+	2	0	RAP1GAP2	2835031	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	6.743000	0.74848	2.166000	0.68216	0.462000	0.41574	TCC		0.423	RAP1GAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438208.2			A	2888281	C	A	2888281	3	1	819	1	0	0	0	0	1	0	0	0	13044	855	30	4	776	4	RAP1GAP2	17	2888281	Missense_Mutation	SNP	C	TCGA-Y8-A897-01A-11D-A35Z-10		2888281	78306929	45	49270											
FBF1	85302	hgsc.bcm.edu	37	17	73916469	73916469	+	Missense_Mutation	SNP	G	G	C			TCGA-Y8-A897-01A-11D-A35Z-10	TCGA-Y8-A897-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a18fd0a9-7914-410c-8f2f-0b8c86803b88	56e7a4a9-632d-45d1-a1b1-f3ed4e689c9e	g.chr17:73916469G>C	ENST00000586717.1	-	17	1947	c.1674C>G	c.(1672-1674)agC>agG	p.S558R	FBF1_ENST00000319129.5_Missense_Mutation_p.S557R|FBF1_ENST00000389570.4_Missense_Mutation_p.S558R			Q8TES7	FBF1_HUMAN	Fas (TNFRSF6) binding factor 1	558					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						GGTATTCTGTGCTCGGCAGCA	0.647																																																0													17	21	19					17																	73916469		1972	4147	6119	SO:0001583	missense	85302			AK074045	CCDS45779.1	17q25.3	2011-04-21			ENSG00000188878	ENSG00000188878			24674	protein-coding gene	gene with protein product	"albatross"					11347906	Standard	NM_001080542		Approved	FLJ00103, FBF-1, KIAA1863, ALB	uc002jqc.3	Q8TES7		ENST00000586717.1:c.1674C>G	chr17.hg19:g.73916469G>C	ENSP00000465132:p.Ser558Arg		B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	ENST00000586717.1	hg19		.	.	.	.	.	.	.	.	.	.	G	8.952	0.968338	0.18659	.	.	ENSG00000188878	ENST00000337792;ENST00000389570;ENST00000319129;ENST00000427433	T;T	0.18960	2.18;2.21	5.22	-3.18	0.05186	.	.	.	.	.	T	0.10121	0.0248	N	0.14661	0.345	0.09310	N	1	B;B;B	0.31040	0.256;0.305;0.256	B;B;B	0.34138	0.132;0.175;0.176	T	0.41610	-0.9499	9	0.16896	T	0.51	-12.3052	6.6412	0.22911	0.3899:0.0:0.4887:0.1214	.	572;558;557	Q8TES7-6;Q8TES7;A6NLR5	.;FBF1_HUMAN;.	R	558;558;557;571	ENSP00000374221:S558R;ENSP00000324292:S557R	ENSP00000324292:S557R	S	-	3	2	FBF1	71428064	0.000000	0.05858	0.001000	0.08648	0.171000	0.22731	0.222000	0.17699	-0.141000	0.11374	-0.122000	0.15005	AGC		0.647	FBF1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000448945.2	NM_001080542		C	73916469	G	C	73916469	3	2	819	1	0	0	0	0	1	0	0	0	5697	1310	46	4	1782	4	FBF1	17	73916469	Missense_Mutation	SNP	G	TCGA-Y8-A897-01A-11D-A35Z-10	71028188	73916469	7278741	46	49271											
TNRC6C	57690	hgsc.bcm.edu	37	17	76087521	76087521	+	Splice_Site	SNP	C	C	G			TCGA-Y8-A897-01A-11D-A35Z-10	TCGA-Y8-A897-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a18fd0a9-7914-410c-8f2f-0b8c86803b88	56e7a4a9-632d-45d1-a1b1-f3ed4e689c9e	g.chr17:76087521C>G	ENST00000588061.1	+	16	4530	c.3803C>G	c.(3802-3804)gCt>gGt	p.A1268G	TNRC6C_ENST00000335749.4_Splice_Site_p.A1265G|TNRC6C_ENST00000544502.1_Splice_Site_p.A1265G|TNRC6C_ENST00000301624.4_Splice_Site_p.A1268G|TNRC6C_ENST00000588847.1_Splice_Site_p.A1265G|TNRC6C_ENST00000541771.1_Splice_Site_p.A1268G			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1268	Silencing domain; interaction with CNOT1 and PAN3.				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)			CTCTCTTTAGCTGGACTGAAC	0.498																																																0													94	90	91					17																	76087521		1990	4164	6154	SO:0001630	splice_region_variant	57690			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.3803-1C>G	chr17.hg19:g.76087521C>G			G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Missense_Mutation	SNP	ENST00000588061.1	hg19	CCDS45798.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.872451	0.51695	.	.	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	T;T;T;T	0.15139	2.45;2.45;2.45;2.45	5.97	5.97	0.96955	.	0.218024	0.48286	D	0.000187	T	0.17492	0.0420	L	0.36672	1.1	0.80722	D	1	B;B	0.12630	0.003;0.006	B;B	0.15870	0.011;0.014	T	0.07481	-1.0770	9	.	.	.	.	20.4251	0.99070	0.0:1.0:0.0:0.0	.	1265;1268	G3XAB8;Q9HCJ0	.;TNR6C_HUMAN	G	1268;1265;1265;1268;1268;1265	ENSP00000336783:A1265G;ENSP00000301624:A1268G;ENSP00000440310:A1268G;ENSP00000442421:A1265G	.	A	+	2	0	TNRC6C	73599116	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	6.086000	0.71352	2.829000	0.97493	0.650000	0.86243	GCT		0.498	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996	Missense_Mutation	G	76087521	C	G	76087521	5	3	819	1	0	0	0	0	0	0	1	0	16347	811	28	4	3849	4	TNRC6C	17	76087521	Splice_Site	SNP	C	TCGA-Y8-A897-01A-11D-A35Z-10	2171052	76087521	5107689	47	49272											
USP36	57602	hgsc.bcm.edu	37	17	76802272	76802272	+	Missense_Mutation	SNP	C	C	T			TCGA-Y8-A897-01A-11D-A35Z-10	TCGA-Y8-A897-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a18fd0a9-7914-410c-8f2f-0b8c86803b88	56e7a4a9-632d-45d1-a1b1-f3ed4e689c9e	g.chr17:76802272C>T	ENST00000542802.3	-	15	2625	c.2182G>A	c.(2182-2184)Gtc>Atc	p.V728I	USP36_ENST00000449938.2_Missense_Mutation_p.V428I|USP36_ENST00000312010.6_Missense_Mutation_p.V728I|USP36_ENST00000588467.1_5'Flank			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	728					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			GAGGCAACGACGGGGTGAGAG	0.637																																																0													90	83	86					17																	76802272		2203	4300	6503	SO:0001583	missense	57602			AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"Ubiquitin-specific peptidases"	20062	protein-coding gene	gene with protein product		612543	"ubiquitin specific protease 36"			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.2182G>A	chr17.hg19:g.76802272C>T	ENSP00000441214:p.Val728Ile		Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Missense_Mutation	SNP	ENST00000542802.3	hg19	CCDS32755.1	.	.	.	.	.	.	.	.	.	.	C	7.088	0.571496	0.13623	.	.	ENSG00000055483	ENST00000312010;ENST00000449938;ENST00000542802	T;T;T	0.19394	3.17;2.15;3.17	5.36	1.2	0.21068	.	0.950666	0.08909	N	0.876186	T	0.17365	0.0417	L	0.39397	1.21	0.09310	N	1	B;B	0.21309	0.032;0.054	B;B	0.22386	0.017;0.039	T	0.34800	-0.9814	10	0.28530	T	0.3	-11.5013	8.2243	0.31560	0.0:0.678:0.0:0.322	.	728;728	Q9P275;Q9P275-2	UBP36_HUMAN;.	I	728;428;728	ENSP00000310590:V728I;ENSP00000401119:V428I;ENSP00000441214:V728I	ENSP00000310590:V728I	V	-	1	0	USP36	74313867	0.006000	0.16342	0.366000	0.25914	0.382000	0.30200	0.376000	0.20535	0.023000	0.15187	-0.766000	0.03442	GTC		0.637	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437472.3	NM_025090		T	76802272	C	T	76802272	3	4	819	1	0	0	0	0	1	0	0	0	17072	536	19	1	1213	1	USP36	17	76802272	Missense_Mutation	SNP	C	TCGA-Y8-A897-01A-11D-A35Z-10	714751	76802272	4392938	48	49273											
PTPRM	5797	hgsc.bcm.edu	37	18	7774145	7774145	+	Splice_Site	SNP	A	A	C			TCGA-Y8-A897-01A-11D-A35Z-10	TCGA-Y8-A897-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a18fd0a9-7914-410c-8f2f-0b8c86803b88	56e7a4a9-632d-45d1-a1b1-f3ed4e689c9e	g.chr18:7774145A>C	ENST00000332175.8	+	2	1110		c.e2-1		PTPRM_ENST00000580170.1_Splice_Site|PTPRM_ENST00000400053.4_Splice_Site|PTPRM_ENST00000400060.4_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)				TTTACATTTTAGGTGGCTGCC	0.398																																																0													122	115	117					18																	7774145		2203	4300	6503	SO:0001630	splice_region_variant	5797			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.74-1A>C	chr18.hg19:g.7774145A>C			A7MBN1|D3DUH8|J3QL11	Splice_Site	SNP	ENST00000332175.8	hg19	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	A	18.59	3.657315	0.67586	.	.	ENSG00000173482	ENST00000332175;ENST00000400060	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3444	0.74324	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTPRM	7764145	1.000000	0.71417	0.994000	0.49952	0.850000	0.48378	6.965000	0.76067	2.324000	0.78689	0.533000	0.62120	.		0.398	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1		Intron	C	7774145	A	C	7774145	5	2	819	1	0	0	0	0	0	0	1	0	12812	434	15	5	78	5	PTPRM	18	7774145	Splice_Site	SNP	A	TCGA-Y8-A897-01A-11D-A35Z-10		7774145	70303103	49	49274											
KIAA1632	57724	hgsc.bcm.edu	37	18	43503240	43503240	+	Missense_Mutation	SNP	C	C	T			TCGA-Y8-A897-01A-11D-A35Z-10	TCGA-Y8-A897-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a18fd0a9-7914-410c-8f2f-0b8c86803b88	56e7a4a9-632d-45d1-a1b1-f3ed4e689c9e	g.chr18:43503240C>T	ENST00000282041.5	-	15	2866	c.2832G>A	c.(2830-2832)atG>atA	p.M944I		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	944					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						ATACCTGCTTCATACTTTCAG	0.378																																																0													84	76	79					18																	43503240		1843	4098	5941	SO:0001583	missense	57724			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.2832G>A	chr18.hg19:g.43503240C>T	ENSP00000282041:p.Met944Ile		A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	hg19	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	C	3.452	-0.111780	0.06881	.	.	ENSG00000152223	ENST00000282041	T	0.06933	3.24	5.49	3.43	0.39272	.	0.084546	0.49916	D	0.000132	T	0.02304	0.0071	N	0.04203	-0.255	0.31848	N	0.622549	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.44314	-0.9336	10	0.02654	T	1	-23.3105	0.8864	0.01245	0.2312:0.3676:0.2247:0.1765	.	944;944	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	I	944	ENSP00000282041:M944I	ENSP00000282041:M944I	M	-	3	0	EPG5	41757238	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.851000	0.39338	2.575000	0.86900	0.650000	0.86243	ATG		0.378	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		T	43503240	C	T	43503240	3	4	819	1	0	0	0	0	1	0	0	0	8251	826	29	2	5027	2	KIAA1632	18	43503240	Missense_Mutation	SNP	C	TCGA-Y8-A897-01A-11D-A35Z-10	35729095	43503240	34574008	50	49275											
DSEL	92126	hgsc.bcm.edu	37	18	65179563	65179563	+	Silent	SNP	A	A	G			TCGA-Y8-A897-01A-11D-A35Z-10	TCGA-Y8-A897-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a18fd0a9-7914-410c-8f2f-0b8c86803b88	56e7a4a9-632d-45d1-a1b1-f3ed4e689c9e	g.chr18:65179563A>G	ENST00000310045.7	-	2	3786	c.2313T>C	c.(2311-2313)caT>caC	p.H771H	CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	761					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TAATCCTATCATGTCTTACAG	0.383																																																0													50	53	52					18																	65179563		2203	4300	6503	SO:0001819	synonymous_variant	92126			AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"chromosome 18 open reading frame 4"	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.2313T>C	chr18.hg19:g.65179563A>G			Q17RH1|Q6P5Z3	Silent	SNP	ENST00000310045.7	hg19	CCDS11995.1																																																																																				0.383	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		G	65179563	A	G	65179563	2	3	819	1	0	0	0	0	0	0	0	1	4777	214	8	3		3	DSEL	18	65179563	Silent	SNP	A	TCGA-Y8-A897-01A-11D-A35Z-10	21676323	65179563	12897685	51	49276											
CNDP2	55748	hgsc.bcm.edu	37	18	72186228	72186228	+	Missense_Mutation	SNP	C	C	T			TCGA-Y8-A897-01A-11D-A35Z-10	TCGA-Y8-A897-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a18fd0a9-7914-410c-8f2f-0b8c86803b88	56e7a4a9-632d-45d1-a1b1-f3ed4e689c9e	g.chr18:72186228C>T	ENST00000324262.4	+	11	1571	c.1255C>T	c.(1255-1257)Ccc>Tcc	p.P419S	CNDP2_ENST00000324301.8_Missense_Mutation_p.P335S|CNDP2_ENST00000579847.1_Missense_Mutation_p.P419S	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	419					cellular nitrogen compound metabolic process (GO:0034641)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		CGGCAGTATTCCCGTGACCTT	0.547																																																0													99	102	101					18																	72186228		2203	4300	6503	SO:0001583	missense	55748			AK001692	CCDS12006.1, CCDS54190.1	18q22.3	2014-07-14	2004-07-12		ENSG00000133313	ENSG00000133313	3.4.13.18		24437	protein-coding gene	gene with protein product	"cytosolic nonspecific dipeptidase"	169800	"peptidase A"	PEPA		12473676	Standard	NM_018235		Approved	FLJ10830, CN2, HsT2298, CPGL	uc002llm.2	Q96KP4	OTTHUMG00000132853	ENST00000324262.4:c.1255C>T	chr18.hg19:g.72186228C>T	ENSP00000325548:p.Pro419Ser		B3KUG4|Q8WY59|Q9BQ94|Q9NVB4	Missense_Mutation	SNP	ENST00000324262.4	hg19	CCDS12006.1	.	.	.	.	.	.	.	.	.	.	C	33	5.255471	0.95336	.	.	ENSG00000133313	ENST00000324262;ENST00000324301	T;T	0.09163	3.01;3.01	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.53465	0.1798	H	0.98295	4.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.73855	-0.3851	10	0.87932	D	0	-2.6596	19.1765	0.93604	0.0:1.0:0.0:0.0	.	335;419	Q96KP4-2;Q96KP4	.;CNDP2_HUMAN	S	419;335	ENSP00000325548:P419S;ENSP00000325756:P335S	ENSP00000325548:P419S	P	+	1	0	CNDP2	70337208	1.000000	0.71417	0.841000	0.33234	0.961000	0.63080	7.731000	0.84895	2.538000	0.85594	0.650000	0.86243	CCC		0.547	CNDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256327.1	NM_018235		T	72186228	C	T	72186228	3	4	819	1	0	0	0	0	1	0	0	0	3596	855	30	2	1293	2	CNDP2	18	72186228	Missense_Mutation	SNP	C	TCGA-Y8-A897-01A-11D-A35Z-10	7006665	72186228	5891020	52	49277											
ZNF285	26974	hgsc.bcm.edu	37	19	44892064	44892064	+	Frame_Shift_Del	DEL	A	A	-			TCGA-Y8-A897-01A-11D-A35Z-10	TCGA-Y8-A897-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a18fd0a9-7914-410c-8f2f-0b8c86803b88	56e7a4a9-632d-45d1-a1b1-f3ed4e689c9e	g.chr19:44892064delA	ENST00000330997.4	-	4	407	c.343delT	c.(343-345)tctfs	p.S115fs	ZNF285_ENST00000544719.2_Frame_Shift_Del_p.S115fs|ZNF285_ENST00000591679.1_Frame_Shift_Del_p.S122fs|CTC-512J12.6_ENST00000588212.1_Intron	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	115					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						ATCTGAAGAGAAATGCCTGCC	0.408																																																0													87	86	86					19																	44892064		2203	4300	6503	SO:0001589	frameshift_variant	26974			AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"Zinc fingers, C2H2-type", "-"	13079	protein-coding gene	gene with protein product			"zinc finger protein 285A"	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.343delT	chr19.hg19:g.44892064delA	ENSP00000333595:p.Ser115fs		Q17RJ3|Q6B0A8|Q6ISR5	Frame_Shift_Del	DEL	ENST00000330997.4	hg19	CCDS12638.1																																																																																				0.408	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354		-	44892064	A	-	44892064	7	5	819	1	0	1	0	1	0	0	0	0	17827	246	9	0	1433	0	ZNF285	19	44892064	Frame_Shift_Del	DEL	A	TCGA-Y8-A897-01A-11D-A35Z-10		44892064	14236919	53	49278											
OXT	5020	hgsc.bcm.edu	37	20	3052889	3052889	+	Missense_Mutation	SNP	G	G	A			TCGA-Y8-A897-01A-11D-A35Z-10	TCGA-Y8-A897-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a18fd0a9-7914-410c-8f2f-0b8c86803b88	56e7a4a9-632d-45d1-a1b1-f3ed4e689c9e	g.chr20:3052889G>A	ENST00000217386.2	+	2	323	c.287G>A	c.(286-288)gGc>gAc	p.G96D		NM_000915.2	NP_000906.1	P01178	NEU1_HUMAN	oxytocin/neurophysin I prepropeptide	96					drinking behavior (GO:0042756)|eating behavior (GO:0042755)|female pregnancy (GO:0007565)|grooming behavior (GO:0007625)|heart development (GO:0007507)|hyperosmotic salinity response (GO:0042538)|male mating behavior (GO:0060179)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|memory (GO:0007613)|negative regulation of blood pressure (GO:0045776)|negative regulation of gastric acid secretion (GO:0060455)|negative regulation of urine volume (GO:0035811)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of female receptivity (GO:0045925)|positive regulation of hindgut contraction (GO:0060450)|positive regulation of norepinephrine secretion (GO:0010701)|positive regulation of ossification (GO:0045778)|positive regulation of penile erection (GO:0060406)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of heart rate (GO:0002027)|regulation of sensory perception of pain (GO:0051930)|response to activity (GO:0014823)|response to amphetamine (GO:0001975)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to ether (GO:0045472)|response to food (GO:0032094)|response to glucocorticoid (GO:0051384)|response to peptide hormone (GO:0043434)|response to progesterone (GO:0032570)|response to prostaglandin E (GO:0034695)|response to retinoic acid (GO:0032526)|response to sucrose (GO:0009744)|signal transduction (GO:0007165)|sleep (GO:0030431)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)				lung(2)	2					Oxytocin(DB00107)	GGGAGCGGGGGCCGCTGCGCG	0.766																																																0													7	9	9					20																	3052889		2026	4087	6113	SO:0001583	missense	5020				CCDS13044.1	20p13	2013-02-28	2012-10-23		ENSG00000101405	ENSG00000101405		"Endogenous ligands"	8528	protein-coding gene	gene with protein product	"oxytocin", "neurophysin I"	167050	"oxytocin, prepro- (neurophysin I)", "oxytocin, prepropeptide"	OT			Standard	NM_000915		Approved	OXT-NPI, OT-NPI	uc002wht.1	P01178	OTTHUMG00000031724	ENST00000217386.2:c.287G>A	chr20.hg19:g.3052889G>A	ENSP00000217386:p.Gly96Asp		Q3MIG0	Missense_Mutation	SNP	ENST00000217386.2	hg19	CCDS13044.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.551282	0.65311	.	.	ENSG00000101405	ENST00000217386	D	0.97404	-4.37	4.35	3.37	0.38596	.	0.106321	0.64402	D	0.000004	D	0.98635	0.9543	M	0.92122	3.275	0.58432	D	0.999997	D	0.76494	0.999	D	0.80764	0.994	D	0.99334	1.0910	10	0.87932	D	0	-22.9506	13.9613	0.64182	0.0:0.1534:0.8466:0.0	.	96	P01178	NEU1_HUMAN	D	96	ENSP00000217386:G96D	ENSP00000217386:G96D	G	+	2	0	OXT	3000889	1.000000	0.71417	0.997000	0.53966	0.212000	0.24457	5.958000	0.70330	0.767000	0.33267	0.491000	0.48974	GGC		0.766	OXT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077698.2	NM_000915		A	3052889	G	A	3052889	3	1	819	1	0	0	0	0	1	0	0	0	11339	1203	42	2	293	2	OXT	20	3052889	Missense_Mutation	SNP	G	TCGA-Y8-A897-01A-11D-A35Z-10		3052889	59972631	54	49279											
PRIC285	85441	hgsc.bcm.edu	37	20	62199985	62199985	+	Missense_Mutation	SNP	C	C	T	rs547559351		TCGA-Y8-A897-01A-11D-A35Z-10	TCGA-Y8-A897-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a18fd0a9-7914-410c-8f2f-0b8c86803b88	56e7a4a9-632d-45d1-a1b1-f3ed4e689c9e	g.chr20:62199985C>T	ENST00000467148.1	-	5	1525	c.1456G>A	c.(1456-1458)Gac>Aac	p.D486N	HELZ2_ENST00000427522.2_5'Flank|HELZ2_ENST00000479540.1_5'Flank	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	486					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)										GGCAGTGTGTCCACTGCCTGG	0.672													C|||	1	0.000199681	0.0	0.0	5008	,	,		16690	0.001		0.0	False		,,,				2504	0.0															0													11	13	12					20																	62199985		2171	4255	6426	SO:0001583	missense	85441			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.1456G>A	chr20.hg19:g.62199985C>T	ENSP00000417401:p.Asp486Asn		Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	hg19	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.227891	0.79576	.	.	ENSG00000130589	ENST00000467148	D	0.83755	-1.76	4.67	4.67	0.58626	.	0.124802	0.52532	D	0.000078	D	0.90796	0.7110	M	0.74258	2.255	0.48571	D	0.999675	D	0.89917	1.0	D	0.91635	0.999	D	0.92003	0.5612	10	0.66056	D	0.02	-29.1757	17.577	0.87953	0.0:1.0:0.0:0.0	.	486	Q9BYK8	PR285_HUMAN	N	486	ENSP00000417401:D486N	ENSP00000417401:D486N	D	-	1	0	RP4-697K14.7	61670429	1.000000	0.71417	0.898000	0.35279	0.228000	0.25075	7.448000	0.80631	2.157000	0.67596	0.563000	0.77884	GAC		0.672	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		T	62199985	C	T	62199985	3	4	819	1	0	0	0	0	1	0	0	0	12490	855	30	2	6576	2	PRIC285	20	62199985	Missense_Mutation	SNP	C	TCGA-Y8-A897-01A-11D-A35Z-10	59147096	62199985	825535	55	49280											
PCNT	5116	hgsc.bcm.edu	37	21	47831328	47831328	+	Frame_Shift_Del	DEL	G	G	-	rs200137805	byFrequency	TCGA-Y8-A897-01A-11D-A35Z-10	TCGA-Y8-A897-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a18fd0a9-7914-410c-8f2f-0b8c86803b88	56e7a4a9-632d-45d1-a1b1-f3ed4e689c9e	g.chr21:47831328delG	ENST00000359568.5	+	28	5448	c.5341delG	c.(5341-5343)gggfs	p.G1782fs	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1782					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)		p.G1781R(1)		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)					CTCCCAGGCCGGGGGCCCTCG	0.692																																																1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											27	33	31					21																	47831328		2198	4296	6494	SO:0001589	frameshift_variant	5116			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"kendrin", "Seckel syndrome 4"	605925	"pericentrin 2 (kendrin)"	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.5341delG	chr21.hg19:g.47831328delG	ENSP00000352572:p.Gly1782fs		O43152|Q7Z7C9	Frame_Shift_Del	DEL	ENST00000359568.5	hg19	CCDS33592.1																																																																																				0.692	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		-	47831328	G	-	47831328	7	5	819	1	0	1	0	1	0	0	0	0	11592	1116	39	0	5451	0	PCNT	21	47831328	Frame_Shift_Del	DEL	G	TCGA-Y8-A897-01A-11D-A35Z-10		47831328	298567	56	49281											
PNPLA5	150379	hgsc.bcm.edu	37	22	44287719	44287719	+	Missense_Mutation	SNP	G	G	T			TCGA-Y8-A897-01A-11D-A35Z-10	TCGA-Y8-A897-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a18fd0a9-7914-410c-8f2f-0b8c86803b88	56e7a4a9-632d-45d1-a1b1-f3ed4e689c9e	g.chr22:44287719G>T	ENST00000597664.1	-	1	171	c.42C>A	c.(40-42)ttC>ttA	p.F14L	PNPLA5_ENST00000593866.1_Missense_Mutation_p.F14L|PNPLA5_ENST00000216177.4_Missense_Mutation_p.F14L|PNPLA5_ENST00000381198.2_Missense_Mutation_p.F14L			Q7Z6Z6	PLPL5_HUMAN	patatin-like phospholipase domain containing 5	14	Patatin.				lipid catabolic process (GO:0016042)		hydrolase activity (GO:0016787)			endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	16		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				CGGCGCCGGAGAAGGACAGGT	0.706																																																0													6	7	7					22																	44287719		1700	3173	4873	SO:0001583	missense	150379			Z97055	CCDS14053.1, CCDS54537.1	22q13.31	2009-01-12			ENSG00000100341	ENSG00000100341		"Patatin-like phospholipase domain containing"	24888	protein-coding gene	gene with protein product		611589				16799181, 19029121	Standard	NM_138814		Approved	dJ388M5.4, GS2L	uc003beg.3	Q7Z6Z6	OTTHUMG00000030779	ENST00000597664.1:c.42C>A	chr22.hg19:g.44287719G>T	ENSP00000471069:p.Phe14Leu		B1AHL8|B3KPR1|Q6ZST0	Missense_Mutation	SNP	ENST00000597664.1	hg19		.	.	.	.	.	.	.	.	.	.	G	17.99	3.522118	0.64747	.	.	ENSG00000100341	ENST00000216177;ENST00000381198;ENST00000438734	T;T;T	0.66280	-0.2;-0.2;-0.2	5.03	2.9	0.33743	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	0.000000	0.64402	D	0.000001	T	0.73125	0.3547	M	0.63843	1.955	0.24854	N	0.99238	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.62955	-0.6744	10	0.51188	T	0.08	-37.3994	10.5912	0.45310	0.1639:0.0:0.8361:0.0	.	14;14	Q7Z6Z6-2;Q7Z6Z6	.;PLPL5_HUMAN	L	14	ENSP00000216177:F14L;ENSP00000370595:F14L;ENSP00000405732:F14L	ENSP00000216177:F14L	F	-	3	2	PNPLA5	42619052	0.904000	0.30761	0.803000	0.32268	0.107000	0.19398	1.167000	0.31847	1.115000	0.41800	0.313000	0.20887	TTC		0.706	PNPLA5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000075667.4	NM_138814		T	44287719	G	T	44287719	3	4	819	1	0	0	0	0	1	0	0	0	12170	933	33	4	1283	4	PNPLA5	22	44287719	Missense_Mutation	SNP	G	TCGA-Y8-A897-01A-11D-A35Z-10		44287719	7016847	57	49282											
SLC9A7	84679	hgsc.bcm.edu	37	X	46541773	46541773	+	Missense_Mutation	SNP	T	T	C			TCGA-Y8-A897-01A-11D-A35Z-10	TCGA-Y8-A897-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a18fd0a9-7914-410c-8f2f-0b8c86803b88	56e7a4a9-632d-45d1-a1b1-f3ed4e689c9e	g.chrX:46541773T>C	ENST00000328306.4	-	2	548	c.523A>G	c.(523-525)Aag>Gag	p.K175E		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	175					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						CAGCTCACCTTCCGTAGCATA	0.463																																					Pancreas(118;454 1696 1930 13865 39976)											0													143	97	112					X																	46541773		2203	4300	6503	SO:0001583	missense	84679			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.523A>G	chrX.hg19:g.46541773T>C	ENSP00000330320:p.Lys175Glu		O75827|Q5JXP9	Missense_Mutation	SNP	ENST00000328306.4	hg19	CCDS14269.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.484663	0.84854	.	.	ENSG00000065923	ENST00000328306	T	0.56776	0.44	5.7	5.7	0.88788	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.66771	0.2823	M	0.65677	2.01	0.80722	D	1	D	0.56287	0.975	P	0.60541	0.876	T	0.64639	-0.6360	10	0.27785	T	0.31	.	14.9741	0.71257	0.0:0.0:0.0:1.0	.	175	Q96T83	SL9A7_HUMAN	E	175	ENSP00000330320:K175E	ENSP00000330320:K175E	K	-	1	0	SLC9A7	46426717	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	7.611000	0.82962	1.918000	0.55548	0.486000	0.48141	AAG		0.463	SLC9A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056370.1	NM_032591		C	46541773	T	C	46541773	3	2	819	1	0	0	0	0	1	0	0	0	14725	1792	62	3	1718	3	SLC9A7	23	46541773	Missense_Mutation	SNP	T	TCGA-Y8-A897-01A-11D-A35Z-10		46541773	108728787	58	49283											
IQSEC2	23096	hgsc.bcm.edu	37	X	53350189	53350189	+	Missense_Mutation	SNP	C	C	T			TCGA-Y8-A897-01A-11D-A35Z-10	TCGA-Y8-A897-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a18fd0a9-7914-410c-8f2f-0b8c86803b88	56e7a4a9-632d-45d1-a1b1-f3ed4e689c9e	g.chrX:53350189C>T	ENST00000375368.5	-	1	333	c.133G>A	c.(133-135)Gag>Aag	p.E45K	IQSEC2_ENST00000396435.3_Missense_Mutation_p.E45K			Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	45					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						TCCAGCTCCTCGATGCGCCGC	0.677																																																0													3	3	3					X																	53350189		634	1433	2067	SO:0001583	missense	23096			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.133G>A	chrX.hg19:g.53350189C>T	ENSP00000364517:p.Glu45Lys		B3KT97|C7SDG1|O60275|Q5JUX1	Missense_Mutation	SNP	ENST00000375368.5	hg19		.	.	.	.	.	.	.	.	.	.	c	15.76	2.928174	0.52759	.	.	ENSG00000124313	ENST00000396435;ENST00000375368	T;T	0.17854	2.25;2.27	2.73	2.73	0.32206	.	0.699468	0.11421	U	0.565815	T	0.20007	0.0481	L	0.27053	0.805	0.33140	D	0.544226	D	0.69078	0.997	P	0.53006	0.715	T	0.29941	-0.9995	10	0.72032	D	0.01	.	10.7028	0.45937	0.0:1.0:0.0:0.0	.	45	Q5JU85-2	.	K	45	ENSP00000379712:E45K;ENSP00000364517:E45K	ENSP00000364517:E45K	E	-	1	0	IQSEC2	53366914	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.250000	0.65432	1.641000	0.50575	0.284000	0.19432	GAG		0.677	IQSEC2-201	KNOWN	basic	protein_coding	protein_coding		XM_291345		T	53350189	C	T	53350189	3	4	819	1	0	0	0	0	1	0	0	0	7820	893	31	1	4523	1	IQSEC2	23	53350189	Missense_Mutation	SNP	C	TCGA-Y8-A897-01A-11D-A35Z-10	6808416	53350189	101920371	59	49284											
CAMTA1	23261	hgsc.bcm.edu	37	1	7724719	7724719	+	Silent	SNP	G	G	T			TCGA-Y8-A898-01A-11D-A34Z-10	TCGA-Y8-A898-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c71a07f-83ad-4612-a896-217d2fde9904	b87bb919-a7fb-44d5-a76a-872cb44c2dc0	g.chr1:7724719G>T	ENST00000303635.7	+	9	2319	c.2112G>T	c.(2110-2112)ctG>ctT	p.L704L	CAMTA1_ENST00000439411.2_Silent_p.L704L	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	704					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GCGAGGTCCTGCTCAAGTCTG	0.662			T	WWTR1	epitheliod hemangioendothelioma																																		Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	0													43	46	45					1																	7724719		2203	4300	6503	SO:0001819	synonymous_variant	23261			AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.2112G>T	chr1.hg19:g.7724719G>T			A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Silent	SNP	ENST00000303635.7	hg19	CCDS30576.1																																																																																				0.662	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		T	7724719	G	T	7724719	2	4	820	1	0	0	0	0	0	0	0	1	2615	1306	46	4		4	CAMTA1	1	7724719	Silent	SNP	G	TCGA-Y8-A898-01A-11D-A34Z-10		7724719	241525902	1	49285											
PDPN	10630	hgsc.bcm.edu	37	1	13910573	13910573	+	Silent	SNP	G	G	T			TCGA-Y8-A898-01A-11D-A34Z-10	TCGA-Y8-A898-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c71a07f-83ad-4612-a896-217d2fde9904	b87bb919-a7fb-44d5-a76a-872cb44c2dc0	g.chr1:13910573G>T	ENST00000294489.6	+	1	614	c.273G>T	c.(271-273)tcG>tcT	p.S91S	PDPN_ENST00000513143.1_5'Flank|PDPN_ENST00000475043.1_5'Flank|PDPN_ENST00000376061.4_5'Flank|PDPN_ENST00000509009.1_5'Flank|PDPN_ENST00000376057.4_Silent_p.S91S|PDPN_ENST00000487038.1_5'Flank					podoplanin									p.S91S(1)		endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-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;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		GAAGCGCGTCGCTCTGGGTCC	0.612																																																1	Substitution - coding silent(1)	large_intestine(1)											41	31	35					1																	13910573		2194	4272	6466	SO:0001819	synonymous_variant	10630			AB127958, AY194238	CCDS30602.1, CCDS41266.1, CCDS44060.1, CCDS53270.1	1p36.21	2008-02-05			ENSG00000162493	ENSG00000162493			29602	protein-coding gene	gene with protein product	"lung type I cell membrane associated glycoprotein"	608863				10393083, 9651190	Standard	NM_006474		Approved	T1A-2, Gp38, aggrus, GP40, PA2.26	uc001avd.3	Q86YL7	OTTHUMG00000007912	ENST00000294489.6:c.273G>T	chr1.hg19:g.13910573G>T				Silent	SNP	ENST00000294489.6	hg19	CCDS30602.1																																																																																				0.612	PDPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021783.2	NM_006474		T	13910573	G	T	13910573	2	4	820	1	0	0	0	0	0	0	0	1	11690	1074	38	4		4	PDPN	1	13910573	Silent	SNP	G	TCGA-Y8-A898-01A-11D-A34Z-10	6185854	13910573	235340048	2	49286											
XKR8	55113	hgsc.bcm.edu	37	1	28290159	28290159	+	Missense_Mutation	SNP	G	G	C			TCGA-Y8-A898-01A-11D-A34Z-10	TCGA-Y8-A898-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c71a07f-83ad-4612-a896-217d2fde9904	b87bb919-a7fb-44d5-a76a-872cb44c2dc0	g.chr1:28290159G>C	ENST00000373884.5	+	2	1053	c.445G>C	c.(445-447)Gtg>Ctg	p.V149L	XKR8_ENST00000481387.1_3'UTR	NM_018053.2	NP_060523.2	Q9H6D3	XKR8_HUMAN	XK, Kell blood group complex subunit-related family, member 8	149					engulfment of apoptotic cell (GO:0043652)|phosphatidylserine exposure on apoptotic cell surface (GO:0070782)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(2)|lung(1)	4		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;4.72e-24)|Colorectal(126;1.52e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00572)|READ - Rectum adenocarcinoma(331;0.0526)		GCTCACGCTGGTGCTGGCCAT	0.622																																																0													22	19	20					1																	28290159		2203	4300	6503	SO:0001583	missense	55113			AK091615	CCDS315.1	1p35.3	2008-02-05	2006-01-12		ENSG00000158156	ENSG00000158156			25508	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 8"			12477932	Standard	NM_018053		Approved	FLJ10307	uc001bph.1	Q9H6D3	OTTHUMG00000003912	ENST00000373884.5:c.445G>C	chr1.hg19:g.28290159G>C	ENSP00000362991:p.Val149Leu			Missense_Mutation	SNP	ENST00000373884.5	hg19	CCDS315.1	.	.	.	.	.	.	.	.	.	.	G	4.622	0.115616	0.08831	.	.	ENSG00000158156	ENST00000373884	T	0.61980	0.06	5.58	3.68	0.42216	.	0.247521	0.39834	N	0.001241	T	0.48714	0.1515	L	0.31752	0.955	0.27758	N	0.943911	B	0.09022	0.002	B	0.10450	0.005	T	0.40720	-0.9548	10	0.39692	T	0.17	.	11.5401	0.50661	0.0735:0.5532:0.3733:0.0	.	149	Q9H6D3	XKR8_HUMAN	L	149	ENSP00000362991:V149L	ENSP00000362991:V149L	V	+	1	0	XKR8	28162746	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	1.076000	0.30729	0.680000	0.31366	0.655000	0.94253	GTG		0.622	XKR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011175.1	NM_018053		C	28290159	G	C	28290159	3	2	820	1	0	0	0	0	1	0	0	0	17442	1261	44	4	451	4	XKR8	1	28290159	Missense_Mutation	SNP	G	TCGA-Y8-A898-01A-11D-A34Z-10	14379586	28290159	220960462	3	49287											
EBNA1BP2	10969	hgsc.bcm.edu	37	1	43632514	43632514	+	Silent	SNP	G	G	A			TCGA-Y8-A898-01A-11D-A34Z-10	TCGA-Y8-A898-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c71a07f-83ad-4612-a896-217d2fde9904	b87bb919-a7fb-44d5-a76a-872cb44c2dc0	g.chr1:43632514G>A	ENST00000236051.2	-	7	831	c.690C>T	c.(688-690)ggC>ggT	p.G230G	EBNA1BP2_ENST00000431635.2_Silent_p.G285G	NM_006824.2	NP_006815.2	Q99848	EBP2_HUMAN	EBNA1 binding protein 2	230					ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TCATCTGCTGGCCTTTGGCTC	0.507																																																0													177	169	172					1																	43632514		2203	4300	6503	SO:0001819	synonymous_variant	10969			U86602	CCDS478.1, CCDS53308.1	1p35-p33	2011-02-10	2001-11-28		ENSG00000117395	ENSG00000117395			15531	protein-coding gene	gene with protein product		614443	"EBNA1-binding protein 2"			10074103, 11438656	Standard	NM_001159936		Approved	NOBP, EBP2, P40	uc010ojx.2	Q99848	OTTHUMG00000007284	ENST00000236051.2:c.690C>T	chr1.hg19:g.43632514G>A			Q96A66	Silent	SNP	ENST00000236051.2	hg19	CCDS478.1																																																																																				0.507	EBNA1BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019015.1			A	43632514	G	A	43632514	2	1	820	1	0	0	0	0	0	0	0	1	4887	1190	42	2		2	EBNA1BP2	1	43632514	Silent	SNP	G	TCGA-Y8-A898-01A-11D-A34Z-10	15342355	43632514	205618107	4	49288											
MPL	4352	hgsc.bcm.edu	37	1	43814558	43814558	+	Silent	SNP	G	G	T			TCGA-Y8-A898-01A-11D-A34Z-10	TCGA-Y8-A898-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c71a07f-83ad-4612-a896-217d2fde9904	b87bb919-a7fb-44d5-a76a-872cb44c2dc0	g.chr1:43814558G>T	ENST00000372470.3	+	9	1395	c.1353G>T	c.(1351-1353)ctG>ctT	p.L451L	MPL_ENST00000413998.2_Silent_p.L451L	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	MPL proto-oncogene, thrombopoietin receptor	451	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|platelet activation (GO:0030168)|regulation of chemokine production (GO:0032642)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			Eltrombopag(DB06210)|Romiplostim(DB05332)	CCCTGGAGCTGCGCCCGCGAT	0.687			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia																														NSCLC(52;534 1204 10016 41452 44427)	yes	Dom	yes	Familial essential thrombocythemia	1	p34	4352	"myeloproliferative leukemia virus oncogene, thrombopoietin receptor"	yes	L	0													9	12	11					1																	43814558		2132	4173	6305	SO:0001819	synonymous_variant	4352			M90102	CCDS483.1	1p34	2014-09-17	2014-06-26		ENSG00000117400	ENSG00000117400		"CD molecules", "Fibronectin type III domain containing"	7217	protein-coding gene	gene with protein product		159530	"myeloproliferative leukemia virus oncogene"			1608974	Standard	NM_005373		Approved	CD110, TPOR	uc001ciw.3	P40238	OTTHUMG00000007429	ENST00000372470.3:c.1353G>T	chr1.hg19:g.43814558G>T			Q5JUZ0	Silent	SNP	ENST00000372470.3	hg19	CCDS483.1																																																																																				0.687	MPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019522.1	NM_005373		T	43814558	G	T	43814558	2	4	820	1	0	0	0	0	0	0	0	1	9732	1306	46	4		4	MPL	1	43814558	Silent	SNP	G	TCGA-Y8-A898-01A-11D-A34Z-10	182044	43814558	205436063	5	49289											
CCBL2	56267	hgsc.bcm.edu	37	1	89418774	89418774	+	Missense_Mutation	SNP	G	G	T	rs577169250		TCGA-Y8-A898-01A-11D-A34Z-10	TCGA-Y8-A898-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c71a07f-83ad-4612-a896-217d2fde9904	b87bb919-a7fb-44d5-a76a-872cb44c2dc0	g.chr1:89418774G>T	ENST00000260508.4	-	10	1263	c.926C>A	c.(925-927)aCg>aAg	p.T309K	CCBL2_ENST00000370485.2_3'UTR|CCBL2_ENST00000370491.3_Missense_Mutation_p.T275K|CCBL2_ENST00000446900.2_5'UTR	NM_001008661.2	NP_001008661.1	Q6YP21	KAT3_HUMAN	cysteine conjugate-beta lyase 2	309					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|kynurenine metabolic process (GO:0070189)|L-kynurenine metabolic process (GO:0097052)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	mitochondrion (GO:0005739)	cysteine-S-conjugate beta-lyase activity (GO:0047804)|kynurenine-glyoxylate transaminase activity (GO:0047315)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|poly(A) RNA binding (GO:0044822)|pyridoxal phosphate binding (GO:0030170)			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|ovary(2)|skin(2)|soft_tissue(1)	18		Lung NSC(277;0.123)		all cancers(265;0.0117)|Epithelial(280;0.0341)		AGTATAAATCGTGTTTTGTTG	0.333																																																0													125	126	125					1																	89418774		2203	4300	6503	SO:0001583	missense	56267			AF091090	CCDS30766.1, CCDS30767.1	1p22.2	2009-06-23			ENSG00000137944	ENSG00000137944			33238	protein-coding gene	gene with protein product		610656				16376499	Standard	NM_001008662		Approved	RBM1, RP11-82K18.3, KAT3	uc001dmp.2	Q6YP21	OTTHUMG00000010617	ENST00000260508.4:c.926C>A	chr1.hg19:g.89418774G>T	ENSP00000260508:p.Thr309Lys		B3KQ13|O95335|Q5JS27|Q5T9T7|Q5T9T8|Q6AI27|Q6ICW1|Q9BVY5	Missense_Mutation	SNP	ENST00000260508.4	hg19	CCDS30766.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.715737	0.48622	.	.	ENSG00000137944	ENST00000370491;ENST00000260508	D;D	0.90676	-2.71;-2.71	5.72	-1.29	0.09288	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.489469	0.24876	N	0.034886	D	0.86932	0.6052	M	0.86502	2.82	0.19300	N	0.99998	B	0.34103	0.437	B	0.41946	0.371	D	0.83437	0.0041	10	0.51188	T	0.08	-2.7189	10.0336	0.42116	0.0618:0.5605:0.2757:0.102	.	309	Q6YP21	KAT3_HUMAN	K	275;309	ENSP00000359522:T275K;ENSP00000260508:T309K	ENSP00000260508:T309K	T	-	2	0	CCBL2	89191362	0.407000	0.25352	0.015000	0.15790	0.808000	0.45660	0.714000	0.25808	-0.200000	0.10300	0.585000	0.79938	ACG		0.333	CCBL2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000029300.3	NM_001008661		T	89418774	G	T	89418774	3	4	820	1	0	0	0	0	1	0	0	0	2735	1145	40	4	458	4	CCBL2	1	89418774	Missense_Mutation	SNP	G	TCGA-Y8-A898-01A-11D-A34Z-10	45604216	89418774	159831847	6	49290											
FRRS1	391059	hgsc.bcm.edu	37	1	100214136	100214149	+	Frame_Shift_Del	DEL	CTGATCTCCTGGCC	CTGATCTCCTGGCC	-			TCGA-Y8-A898-01A-11D-A34Z-10	TCGA-Y8-A898-10A-01D-A34Z-10	CTGATCTCCTGGCC	CTGATCTCCTGGCC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c71a07f-83ad-4612-a896-217d2fde9904	b87bb919-a7fb-44d5-a76a-872cb44c2dc0	g.chr1:100214136_100214149delCTGATCTCCTGGCC	ENST00000414213.1	-	3	777_790	c.176_189delGGCCAGGAGATCAG	c.(175-189)aggccaggagatcagfs	p.RPGDQ59fs	FRRS1_ENST00000287474.5_Frame_Shift_Del_p.RPGDQ59fs			Q6ZNA5	FRRS1_HUMAN	ferric-chelate reductase 1	59	Reelin. {ECO:0000255|PROSITE- ProRule:PRU00363}.					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)		TACCTTCAATCTGATCTCCTGGCCTGAATGTCAT	0.374																																																0																																										SO:0001589	frameshift_variant	391059			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.176_189delGGCCAGGAGATCAG	chr1.hg19:g.100214136_100214149delCTGATCTCCTGGCC	ENSP00000393884:p.Arg59fs		A6NLN7	Frame_Shift_Del	DEL	ENST00000414213.1	hg19																																																																																					0.374	FRRS1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001013660		-	100214149	CTGATCTCCTGGCC	-	100214136	7	5	820	1	0	1	0	1	0	0	0	0	6062	912	32	0	1751	0	FRRS1	1	100214136	Frame_Shift_Del	DEL	CTGATCTCCTGGCC	TCGA-Y8-A898-01A-11D-A34Z-10	10795362	100214136	149036485	7	49291											
CNST	163882	hgsc.bcm.edu	37	1	246811232	246811232	+	Missense_Mutation	SNP	C	C	G			TCGA-Y8-A898-01A-11D-A34Z-10	TCGA-Y8-A898-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c71a07f-83ad-4612-a896-217d2fde9904	b87bb919-a7fb-44d5-a76a-872cb44c2dc0	g.chr1:246811232C>G	ENST00000366513.4	+	9	1998	c.1729C>G	c.(1729-1731)Caa>Gaa	p.Q577E	CNST_ENST00000366512.3_Missense_Mutation_p.Q577E|CNST_ENST00000483271.1_3'UTR	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	577					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						CGATCTCCTTCAAGATCTCTC	0.408																																																0													118	125	122					1																	246811232		2203	4300	6503	SO:0001583	missense	163882			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.1729C>G	chr1.hg19:g.246811232C>G	ENSP00000355470:p.Gln577Glu		Q5VSY9|Q5VTM7|Q8IYA9|Q8N3L5|Q8NB09|Q8TEI2|Q96MR5	Missense_Mutation	SNP	ENST00000366513.4	hg19	CCDS1628.1	.	.	.	.	.	.	.	.	.	.	C	2.651	-0.282026	0.05642	.	.	ENSG00000162852	ENST00000366513;ENST00000366512	T;T	0.18960	2.18;2.22	5.5	5.5	0.81552	.	0.394117	0.24537	N	0.037675	T	0.24967	0.0606	M	0.66939	2.045	0.80722	D	1	P;P	0.46142	0.571;0.873	B;P	0.44811	0.359;0.461	T	0.02560	-1.1141	10	0.09338	T	0.73	-12.0106	12.3059	0.54902	0.0:0.9218:0.0:0.0782	.	577;577	Q6PJW8;Q6PJW8-2	CNST_HUMAN;.	E	577	ENSP00000355470:Q577E;ENSP00000355469:Q577E	ENSP00000355469:Q577E	Q	+	1	0	CNST	244877855	1.000000	0.71417	0.936000	0.37596	0.562000	0.35680	3.027000	0.49697	2.750000	0.94351	0.467000	0.42956	CAA		0.408	CNST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096780.1	NM_152609		G	246811232	C	G	246811232	3	3	820	1	0	0	0	0	1	0	0	0	3636	827	29	4	1759	4	CNST	1	246811232	Missense_Mutation	SNP	C	TCGA-Y8-A898-01A-11D-A34Z-10	146597096	246811232	2439389	8	49292											
ADAM17	6868	hgsc.bcm.edu	37	2	9668056	9668056	+	Nonsense_Mutation	SNP	T	T	A			TCGA-Y8-A898-01A-11D-A34Z-10	TCGA-Y8-A898-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c71a07f-83ad-4612-a896-217d2fde9904	b87bb919-a7fb-44d5-a76a-872cb44c2dc0	g.chr2:9668056T>A	ENST00000310823.3	-	5	660	c.478A>T	c.(478-480)Aaa>Taa	p.K160*	ADAM17_ENST00000497134.1_Nonsense_Mutation_p.K160*	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	160					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell motility (GO:0048870)|collagen catabolic process (GO:0030574)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|germinal center formation (GO:0002467)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil mediated immunity (GO:0002446)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of chemokine production (GO:0032722)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|proteolysis (GO:0006508)|regulation of mast cell apoptotic process (GO:0033025)|response to drug (GO:0042493)|response to high density lipoprotein particle (GO:0055099)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|wound healing, spreading of epidermal cells (GO:0035313)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|interleukin-6 receptor binding (GO:0005138)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|Notch binding (GO:0005112)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		CTTTTGTCTTTGGTATCATTA	0.294																																																0													69	68	69					2																	9668056		2203	4300	6503	SO:0001587	stop_gained	6868			U69611	CCDS1665.1	2p25	2010-08-05	2008-07-31		ENSG00000151694	ENSG00000151694		"ADAM metallopeptidase domain containing", "CD molecules"	195	protein-coding gene	gene with protein product		603639	"tumor necrosis factor, alpha, converting enzyme"	TACE		9034190, 9574564	Standard	NM_003183		Approved	cSVP, CD156B	uc002qzu.3	P78536	OTTHUMG00000090425	ENST00000310823.3:c.478A>T	chr2.hg19:g.9668056T>A	ENSP00000309968:p.Lys160*		O60226	Nonsense_Mutation	SNP	ENST00000310823.3	hg19	CCDS1665.1	.	.	.	.	.	.	.	.	.	.	T	17.99	3.524081	0.64747	.	.	ENSG00000151694	ENST00000310823;ENST00000497134;ENST00000538558	.	.	.	5.43	-8.22	0.01037	.	1.461700	0.03587	N	0.231252	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.1158	0.10081	0.1471:0.3652:0.3488:0.139	.	.	.	.	X	160	.	ENSP00000309968:K160X	K	-	1	0	ADAM17	9585507	0.000000	0.05858	0.001000	0.08648	0.916000	0.54674	-0.458000	0.06737	-0.879000	0.04002	-0.644000	0.03951	AAA		0.294	ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206857.1			A	9668056	T	A	9668056	4	1	820	1	0	0	0	0	0	1	0	0	238	1821	63	5	2056	5	ADAM17	2	9668056	Nonsense_Mutation	SNP	T	TCGA-Y8-A898-01A-11D-A34Z-10		9668056	233531317	9	49293											
SLC35F5	80255	hgsc.bcm.edu	37	2	114513109	114513109	+	Missense_Mutation	SNP	G	G	T			TCGA-Y8-A898-01A-11D-A34Z-10	TCGA-Y8-A898-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c71a07f-83ad-4612-a896-217d2fde9904	b87bb919-a7fb-44d5-a76a-872cb44c2dc0	g.chr2:114513109G>T	ENST00000245680.2	-	2	466	c.53C>A	c.(52-54)tCt>tAt	p.S18Y	SLC35F5_ENST00000409342.1_Missense_Mutation_p.S12Y	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	18					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						AGGAGGTGAAGAACTCAGCAC	0.398																																																0													98	95	96					2																	114513109		2203	4300	6503	SO:0001583	missense	80255			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.53C>A	chr2.hg19:g.114513109G>T	ENSP00000245680:p.Ser18Tyr		Q9H6P8|Q9H7D8	Missense_Mutation	SNP	ENST00000245680.2	hg19	CCDS2119.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.620816	0.46736	.	.	ENSG00000115084	ENST00000245680;ENST00000409106;ENST00000409342	T;T	0.50548	0.75;0.74	5.36	1.42	0.22433	.	0.141760	0.33895	N	0.004453	T	0.28665	0.0710	N	0.22421	0.69	0.27104	N	0.962557	B;B;B	0.26809	0.099;0.16;0.005	B;B;B	0.26969	0.034;0.075;0.007	T	0.19160	-1.0314	10	0.87932	D	0	-7.2459	4.9691	0.14105	0.2587:0.1537:0.5875:0.0	.	18;12;18	B2RDY0;B8ZZV6;Q8WV83	.;.;S35F5_HUMAN	Y	18;12;12	ENSP00000245680:S18Y;ENSP00000386754:S12Y	ENSP00000245680:S18Y	S	-	2	0	SLC35F5	114229579	0.999000	0.42202	0.989000	0.46669	0.778000	0.44026	0.739000	0.26173	0.377000	0.24735	0.650000	0.86243	TCT		0.398	SLC35F5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254150.1	NM_025181		T	114513109	G	T	114513109	3	4	820	1	0	0	0	0	1	0	0	0	14598	942	33	4	1574	4	SLC35F5	2	114513109	Missense_Mutation	SNP	G	TCGA-Y8-A898-01A-11D-A34Z-10	104845053	114513109	128686264	10	49294											
ITGA6	3655	hgsc.bcm.edu	37	2	173335733	173335733	+	Silent	SNP	T	T	C			TCGA-Y8-A898-01A-11D-A34Z-10	TCGA-Y8-A898-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c71a07f-83ad-4612-a896-217d2fde9904	b87bb919-a7fb-44d5-a76a-872cb44c2dc0	g.chr2:173335733T>C	ENST00000264106.6	+	5	878	c.675T>C	c.(673-675)acT>acC	p.T225T	ITGA6_ENST00000409080.1_Silent_p.T225T|ITGA6_ENST00000264107.7_Silent_p.T225T|ITGA6_ENST00000375221.2_Silent_p.T225T|ITGA6_ENST00000409532.1_Intron|ITGA6_ENST00000343713.4_Intron			P23229	ITA6_HUMAN	integrin, alpha 6	225					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			AGAATAACACTTTTTTTGACA	0.348																																																0													119	105	110					2																	173335733		2203	4300	6503	SO:0001819	synonymous_variant	3655				CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"CD molecules", "Integrins"	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.675T>C	chr2.hg19:g.173335733T>C			B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Silent	SNP	ENST00000264106.6	hg19																																																																																					0.348	ITGA6-201	KNOWN	basic	protein_coding	protein_coding				C	173335733	T	C	173335733	2	2	820	1	0	0	0	0	0	0	0	1	7882	1596	56	3		3	ITGA6	2	173335733	Silent	SNP	T	TCGA-Y8-A898-01A-11D-A34Z-10	58822624	173335733	69863640	11	49295											
FZD7	8324	hgsc.bcm.edu	37	2	202900385	202900386	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-Y8-A898-01A-11D-A34Z-10	TCGA-Y8-A898-10A-01D-A34Z-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c71a07f-83ad-4612-a896-217d2fde9904	b87bb919-a7fb-44d5-a76a-872cb44c2dc0	g.chr2:202900385_202900386delCT	ENST00000286201.1	+	1	1076_1077	c.1015_1016delCT	c.(1015-1017)ctcfs	p.L339fs	RP11-107N15.1_ENST00000608741.1_lincRNA	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled class receptor 7	339					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						CTGCACCATCCTCTTCATGGTG	0.629											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0																																										SO:0001589	frameshift_variant	8324			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.1015_1016delCT	chr2.hg19:g.202900387_202900388delCT	ENSP00000286201:p.Leu339fs	2133	O94816|Q53S59|Q96B74	Frame_Shift_Del	DEL	ENST00000286201.1	hg19	CCDS2351.1																																																																																				0.629	FZD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256314.1	NM_003507		-	202900386	CT	-	202900385	7	5	820	1	0	1	0	1	0	0	0	0	6137	681	24	0	1017	0	FZD7	2	202900385	Frame_Shift_Del	DEL	CT	TCGA-Y8-A898-01A-11D-A34Z-10	29564652	202900385	40298988	12	49296											
FARP2	9855	hgsc.bcm.edu	37	2	242312532	242312532	+	Missense_Mutation	SNP	A	A	G			TCGA-Y8-A898-01A-11D-A34Z-10	TCGA-Y8-A898-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c71a07f-83ad-4612-a896-217d2fde9904	b87bb919-a7fb-44d5-a76a-872cb44c2dc0	g.chr2:242312532A>G	ENST00000264042.3	+	2	180	c.10A>G	c.(10-12)Ata>Gta	p.I4V	FARP2_ENST00000373287.4_Missense_Mutation_p.I4V|FARP2_ENST00000545004.1_Missense_Mutation_p.I4V|FARP2_ENST00000479427.1_3'UTR	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	4					actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		AATGGGGGAGATAGAAGGAAC	0.448																																																0													50	52	51					2																	242312532		2203	4300	6503	SO:0001583	missense	9855			AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.10A>G	chr2.hg19:g.242312532A>G	ENSP00000264042:p.Ile4Val		B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Missense_Mutation	SNP	ENST00000264042.3	hg19	CCDS33424.1	.	.	.	.	.	.	.	.	.	.	A	17.59	3.426334	0.62733	.	.	ENSG00000006607	ENST00000264042;ENST00000545004;ENST00000373287;ENST00000418082;ENST00000445489	T;D;D;T;T	0.82167	-0.95;-1.57;-1.58;-0.18;-1.02	5.65	3.27	0.37495	.	0.114499	0.56097	D	0.000032	D	0.85932	0.5812	M	0.75447	2.3	0.30670	N	0.753496	D;B;D	0.61697	0.988;0.42;0.99	P;B;P	0.55713	0.741;0.09;0.782	T	0.83177	-0.0091	10	0.54805	T	0.06	.	7.4465	0.27213	0.7743:0.1525:0.0732:0.0	.	4;4;4	O94887-2;F5GZ84;O94887	.;.;FARP2_HUMAN	V	4	ENSP00000264042:I4V;ENSP00000443876:I4V;ENSP00000362384:I4V;ENSP00000393376:I4V;ENSP00000388167:I4V	ENSP00000264042:I4V	I	+	1	0	FARP2	241961205	1.000000	0.71417	0.987000	0.45799	0.873000	0.50193	3.527000	0.53517	0.407000	0.25591	0.460000	0.39030	ATA		0.448	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323153.1			G	242312532	A	G	242312532	3	3	820	1	0	0	0	0	1	0	0	0	5679	333	12	3	12	3	FARP2	2	242312532	Missense_Mutation	SNP	A	TCGA-Y8-A898-01A-11D-A34Z-10	39412147	242312532	886841	13	49297											
PLXNB1	5364	hgsc.bcm.edu	37	3	48461649	48461649	+	Silent	SNP	T	T	A			TCGA-Y8-A898-01A-11D-A34Z-10	TCGA-Y8-A898-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c71a07f-83ad-4612-a896-217d2fde9904	b87bb919-a7fb-44d5-a76a-872cb44c2dc0	g.chr3:48461649T>A	ENST00000358536.4	-	11	2315	c.2046A>T	c.(2044-2046)ccA>ccT	p.P682P	PLXNB1_ENST00000358459.4_Silent_p.P682P|PLXNB1_ENST00000456774.1_Silent_p.P682P|PLXNB1_ENST00000296440.6_Silent_p.P682P|PLXNB1_ENST00000448774.2_Intron	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	682	Pro-rich.				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)		CAGGAGGGTCTGGGGAGACAA	0.677																																																0													3	3	3					3																	48461649		1845	3666	5511	SO:0001819	synonymous_variant	5364			X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"Plexins"	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.2046A>T	chr3.hg19:g.48461649T>A			A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Silent	SNP	ENST00000358536.4	hg19	CCDS2765.1																																																																																				0.677	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673		A	48461649	T	A	48461649	2	1	820	1	0	0	0	0	0	0	0	1	12125	1567	55	5		5	PLXNB1	3	48461649	Silent	SNP	T	TCGA-Y8-A898-01A-11D-A34Z-10		48461649	149560781	14	49298											
BBX	56987	hgsc.bcm.edu	37	3	107508715	107508715	+	Missense_Mutation	SNP	C	C	T	rs374184448		TCGA-Y8-A898-01A-11D-A34Z-10	TCGA-Y8-A898-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c71a07f-83ad-4612-a896-217d2fde9904	b87bb919-a7fb-44d5-a76a-872cb44c2dc0	g.chr3:107508715C>T	ENST00000325805.8	+	14	2572	c.2285C>T	c.(2284-2286)cCg>cTg	p.P762L	BBX_ENST00000402543.1_Intron|BBX_ENST00000416476.2_Missense_Mutation_p.R426W|BBX_ENST00000406780.1_Intron|BBX_ENST00000415149.2_Intron|BBX_ENST00000473542.1_3'UTR			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	762	Lys-rich.				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)			CCCAATGTTCCGGAAAAAGGT	0.413																																																0													94	87	89					3																	107508715		692	1591	2283	SO:0001583	missense	56987			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.2285C>T	chr3.hg19:g.107508715C>T	ENSP00000319974:p.Pro762Leu		A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Missense_Mutation	SNP	ENST00000325805.8	hg19	CCDS46881.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.37|18.37	3.609699|3.609699	0.66558|0.66558	.|.	.|.	ENSG00000114439|ENSG00000114439	ENST00000325805|ENST00000416476	T|D	0.56611|0.99098	0.45|-5.42	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	0.373129|.	0.27245|.	N|.	0.020258|.	D|D	0.97626|0.97626	0.9222|0.9222	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	B|D	0.30709|0.65815	0.291|0.995	B|P	0.16289|0.49387	0.015|0.609	D|D	0.98570|0.98570	1.0645|1.0645	10|9	0.19590|0.87932	T|D	0.45|0	-5.4091|-5.4091	19.0118|19.0118	0.92875|0.92875	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	762|426	Q8WY36|A2RRM7	BBX_HUMAN|.	L|W	762|426	ENSP00000319974:P762L|ENSP00000403860:R426W	ENSP00000319974:P762L|ENSP00000403860:R426W	P|R	+|+	2|1	0|2	BBX|BBX	108991405|108991405	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	3.061000|3.061000	0.49963|0.49963	2.809000|2.809000	0.96659|0.96659	0.655000|0.655000	0.94253|0.94253	CCG|CGG		0.413	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317820.1	NM_020235		T	107508715	C	T	107508715	3	4	820	1	0	0	0	0	1	0	0	0	1343	652	23	1	2327	1	BBX	3	107508715	Missense_Mutation	SNP	C	TCGA-Y8-A898-01A-11D-A34Z-10	59047066	107508715	90513715	15	49299											
COL6A5	256076	hgsc.bcm.edu	37	3	130159453	130159453	+	Missense_Mutation	SNP	T	T	C	rs550946747		TCGA-Y8-A898-01A-11D-A34Z-10	TCGA-Y8-A898-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c71a07f-83ad-4612-a896-217d2fde9904	b87bb919-a7fb-44d5-a76a-872cb44c2dc0	g.chr3:130159453T>C	ENST00000432398.2	+	35	6765	c.6271T>C	c.(6271-6273)Tat>Cat	p.Y2091H	COL6A5_ENST00000265379.6_Missense_Mutation_p.Y2091H	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2091	Nonhelical region.|VWFA 9. {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						TGGAGAAAATTATGAGAGAAA	0.403																																																0													82	79	80					3																	130159453		1841	4089	5930	SO:0001583	missense	256076			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"Collagens"	26674	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 4"	611916	"collagen, type XXIX, alpha 1"	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.6271T>C	chr3.hg19:g.130159453T>C	ENSP00000390895:p.Tyr2091His		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	ENST00000432398.2	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	1.170|1.170	-0.641239|-0.641239	0.03557|0.03557	.|.	.|.	ENSG00000172752|ENSG00000172752	ENST00000512836|ENST00000432398;ENST00000265379;ENST00000373157	.|D;D;T	.|0.82803	.|-1.65;-1.65;2.59	5.76|5.76	3.56|3.56	0.40772|0.40772	.|von Willebrand factor, type A (3);	.|1.326970	.|0.05194	.|N	.|0.503656	T|T	0.58552|0.58552	0.2130|0.2130	N|N	0.01352|0.01352	-0.895|-0.895	0.09310|0.09310	N|N	1|1	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.06405	.|0.002;0.001	T|T	0.54248|0.54248	-0.8322|-0.8322	5|10	.|0.10377	.|T	.|0.69	.|.	6.7824|6.7824	0.23654|0.23654	0.1484:0.6619:0.0:0.1897|0.1484:0.6619:0.0:0.1897	.|.	.|2091;2091	.|A8TX70;A8TX70-2	.|CO6A5_HUMAN;.	S|H	342|2091;2091;34	.|ENSP00000390895:Y2091H;ENSP00000265379:Y2091H;ENSP00000362250:Y34H	.|ENSP00000265379:Y2091H	L|Y	+|+	2|1	0|0	COL6A5|COL6A5	131642143|131642143	0.000000|0.000000	0.05858|0.05858	0.055000|0.055000	0.19348|0.19348	0.233000|0.233000	0.25261|0.25261	-0.242000|-0.242000	0.08928|0.08928	1.242000|1.242000	0.43836|0.43836	-0.408000|-0.408000	0.06270|0.06270	TTA|TAT		0.403	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264		C	130159453	T	C	130159453	3	2	820	1	0	0	0	0	1	0	0	0	3704	1754	61	3	6405	3	COL6A5	3	130159453	Missense_Mutation	SNP	T	TCGA-Y8-A898-01A-11D-A34Z-10	22650738	130159453	67862977	16	49300											
VPS8	23355	hgsc.bcm.edu	37	3	184714225	184714225	+	Missense_Mutation	SNP	T	T	A			TCGA-Y8-A898-01A-11D-A34Z-10	TCGA-Y8-A898-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c71a07f-83ad-4612-a896-217d2fde9904	b87bb919-a7fb-44d5-a76a-872cb44c2dc0	g.chr3:184714225T>A	ENST00000437079.3	+	44	3943	c.3772T>A	c.(3772-3774)Tgc>Agc	p.C1258S	VPS8_ENST00000436792.2_Missense_Mutation_p.C1256S|VPS8_ENST00000446204.2_Missense_Mutation_p.C1166S|VPS8_ENST00000287546.4_Missense_Mutation_p.C1258S	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	1258							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)			ACAAGATTACTGCTCTATATG	0.418																																																0													82	79	80					3																	184714225		1896	4114	6010	SO:0001583	missense	23355			AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"KIAA0804"	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	ENST00000437079.3:c.3772T>A	chr3.hg19:g.184714225T>A	ENSP00000397879:p.Cys1258Ser		A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Missense_Mutation	SNP	ENST00000437079.3	hg19	CCDS46971.1	.	.	.	.	.	.	.	.	.	.	T	32	5.159102	0.94686	.	.	ENSG00000156931	ENST00000287546;ENST00000437079;ENST00000436792;ENST00000446204	D;D;D;D	0.99809	-6.86;-6.86;-6.86;-6.86	6.03	6.03	0.97812	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.000000	0.85682	D	0.000000	D	0.99729	0.9894	M	0.78916	2.43	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	0.97382	0.9983	10	0.87932	D	0	-15.9436	16.5655	0.84588	0.0:0.0:0.0:1.0	.	1258;1166;1256	Q8N3P4;Q8N3P4-2;Q8N3P4-3	VPS8_HUMAN;.;.	S	1258;1258;1256;1166	ENSP00000287546:C1258S;ENSP00000397879:C1258S;ENSP00000404704:C1256S;ENSP00000405483:C1166S	ENSP00000287546:C1258S	C	+	1	0	VPS8	186196919	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.446000	0.80609	2.302000	0.77476	0.533000	0.62120	TGC		0.418	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015303		A	184714225	T	A	184714225	3	1	820	1	0	0	0	0	1	0	0	0	17223	1580	55	5	3938	5	VPS8	3	184714225	Missense_Mutation	SNP	T	TCGA-Y8-A898-01A-11D-A34Z-10	54554772	184714225	13308205	17	49301											
WDR19	57728	hgsc.bcm.edu	37	4	39218827	39218827	+	Silent	SNP	T	T	C			TCGA-Y8-A898-01A-11D-A34Z-10	TCGA-Y8-A898-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c71a07f-83ad-4612-a896-217d2fde9904	b87bb919-a7fb-44d5-a76a-872cb44c2dc0	g.chr4:39218827T>C	ENST00000399820.3	+	13	1477	c.1323T>C	c.(1321-1323)gcT>gcC	p.A441A	WDR19_ENST00000288634.7_Silent_p.A281A|WDR19_ENST00000506503.1_Silent_p.A441A	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	441					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium assembly (GO:0042384)|digestive system development (GO:0055123)|ear morphogenesis (GO:0042471)|embryonic camera-type eye development (GO:0031076)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|intraciliary retrograde transport (GO:0035721)|myotome development (GO:0061055)|neurological system process (GO:0050877)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|photoreceptor connecting cilium (GO:0032391)				large_intestine(1)	1						ACTATGCTGCTGCACTTTTTG	0.368																																																0													82	77	78					4																	39218827		1844	4096	5940	SO:0001819	synonymous_variant	57728			AB046858, AY029257	CCDS47042.1	4p14	2014-02-21			ENSG00000157796	ENSG00000157796		"WD repeat domain containing", "Intraflagellar transport homologs"	18340	protein-coding gene	gene with protein product	"intraflagellar transport 144 homolog (Chlamydomonas)"	608151				12906858, 22019273	Standard	XM_005262658		Approved	Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13	uc003gtv.3	Q8NEZ3	OTTHUMG00000160466	ENST00000399820.3:c.1323T>C	chr4.hg19:g.39218827T>C			B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	Silent	SNP	ENST00000399820.3	hg19	CCDS47042.1																																																																																				0.368	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360689.1			C	39218827	T	C	39218827	2	2	820	1	0	0	0	0	0	0	0	1	17284	1567	55	3		3	WDR19	4	39218827	Silent	SNP	T	TCGA-Y8-A898-01A-11D-A34Z-10		39218827	151935449	18	49302											
WDFY3	23001	hgsc.bcm.edu	37	4	85636511	85636511	+	Missense_Mutation	SNP	C	C	T			TCGA-Y8-A898-01A-11D-A34Z-10	TCGA-Y8-A898-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c71a07f-83ad-4612-a896-217d2fde9904	b87bb919-a7fb-44d5-a76a-872cb44c2dc0	g.chr4:85636511C>T	ENST00000295888.4	-	50	8308	c.7901G>A	c.(7900-7902)gGa>gAa	p.G2634E	WDFY3_ENST00000322366.6_Missense_Mutation_p.G2617E	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2634	Interaction with SQSTM1.|Sufficient for translocalization to p62 bodies/ALIS.				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)	p.G2634E(1)		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)		CCGTCCATCTCCAGAGAAAAC	0.328																																																1	Substitution - Missense(1)	skin(1)											86	91	89					4																	85636511		2203	4300	6503	SO:0001583	missense	23001			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.7901G>A	chr4.hg19:g.85636511C>T	ENSP00000295888:p.Gly2634Glu		Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	hg19	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	C	9.744	1.165669	0.21538	.	.	ENSG00000163625	ENST00000322366;ENST00000295888;ENST00000514711	T;T;T	0.62105	0.05;0.06;0.08	5.7	5.7	0.88788	PH-BEACH domain (1);	0.053412	0.85682	D	0.000000	T	0.48259	0.1490	L	0.28192	0.835	0.80722	D	1	B	0.22746	0.074	B	0.18263	0.021	T	0.48790	-0.9004	10	0.02654	T	1	.	19.8448	0.96704	0.0:1.0:0.0:0.0	.	2634	Q8IZQ1	WDFY3_HUMAN	E	2617;2634;237	ENSP00000318466:G2617E;ENSP00000295888:G2634E;ENSP00000424987:G237E	ENSP00000295888:G2634E	G	-	2	0	WDFY3	85855535	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.825000	0.69286	2.686000	0.91538	0.650000	0.86243	GGA		0.328	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		T	85636511	C	T	85636511	3	4	820	1	0	0	0	0	1	0	0	0	17275	855	30	2	2755	2	WDFY3	4	85636511	Missense_Mutation	SNP	C	TCGA-Y8-A898-01A-11D-A34Z-10	46417684	85636511	105517765	19	49303											
KIAA0922	23240	hgsc.bcm.edu	37	4	154478175	154478175	+	Nonsense_Mutation	SNP	G	G	T			TCGA-Y8-A898-01A-11D-A34Z-10	TCGA-Y8-A898-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c71a07f-83ad-4612-a896-217d2fde9904	b87bb919-a7fb-44d5-a76a-872cb44c2dc0	g.chr4:154478175G>T	ENST00000409663.3	+	6	542	c.490G>T	c.(490-492)Gga>Tga	p.G164*	KIAA0922_ENST00000409959.3_Nonsense_Mutation_p.G164*|KIAA0922_ENST00000440693.1_Nonsense_Mutation_p.G164*	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	164						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)				TACTGAAGAAGGAAGCATTGA	0.398																																																0													91	94	93					4																	154478175		2203	4300	6503	SO:0001587	stop_gained	23240			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.490G>T	chr4.hg19:g.154478175G>T	ENSP00000386574:p.Gly164*		B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Nonsense_Mutation	SNP	ENST00000409663.3	hg19	CCDS3783.2	.	.	.	.	.	.	.	.	.	.	G	36	5.615280	0.96649	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	.	.	.	5.64	4.78	0.61160	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-18.5311	15.6869	0.77418	0.0:0.0:0.862:0.138	.	.	.	.	X	164;164;164;25	.	ENSP00000240487:G25X	G	+	1	0	KIAA0922	154697625	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.124000	0.77185	1.333000	0.45449	0.650000	0.86243	GGA		0.398	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196		T	154478175	G	T	154478175	4	4	820	1	0	0	0	0	0	1	0	0	8203	1001	35	4	512	4	KIAA0922	4	154478175	Nonsense_Mutation	SNP	G	TCGA-Y8-A898-01A-11D-A34Z-10	68841664	154478175	36676101	20	49304											
PALLD	23022	hgsc.bcm.edu	37	4	169842683	169842683	+	Splice_Site	SNP	A	A	G			TCGA-Y8-A898-01A-11D-A34Z-10	TCGA-Y8-A898-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c71a07f-83ad-4612-a896-217d2fde9904	b87bb919-a7fb-44d5-a76a-872cb44c2dc0	g.chr4:169842683A>G	ENST00000505667.1	+	18	3023		c.e18-1		CBR4_ENST00000509108.1_Intron|PALLD_ENST00000507735.1_Splice_Site|PALLD_ENST00000335742.7_Splice_Site|PALLD_ENST00000512127.1_Splice_Site|PALLD_ENST00000261509.6_Splice_Site			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein						cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		TTTATGATTTAGGTCAGTGGG	0.433									Pancreatic Cancer, Familial Clustering of																												Esophageal Squamous(109;1482 1532 18347 40239 51172)											0													30	27	28					4																	169842683		2203	4300	6503	SO:0001630	splice_region_variant	23022	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"Immunoglobulin superfamily / I-set domain containing"	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.2851-1A>G	chr4.hg19:g.169842683A>G			B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Splice_Site	SNP	ENST00000505667.1	hg19	CCDS54818.1	.	.	.	.	.	.	.	.	.	.	A	13.19	2.162369	0.38217	.	.	ENSG00000129116	ENST00000261509;ENST00000335742;ENST00000505667;ENST00000512127;ENST00000507735	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5257	0.75901	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PALLD	170079258	1.000000	0.71417	0.960000	0.40013	0.319000	0.28217	9.339000	0.96797	2.075000	0.62263	0.454000	0.30748	.		0.433	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363762.1	NM_016081	Intron	G	169842683	A	G	169842683	5	3	820	1	0	0	0	0	0	0	1	0	11409	434	15	3	3422	3	PALLD	4	169842683	Splice_Site	SNP	A	TCGA-Y8-A898-01A-11D-A34Z-10	15364508	169842683	21311593	21	49305											
DMXL1	1657	hgsc.bcm.edu	37	5	118484771	118484771	+	Silent	SNP	T	T	C			TCGA-Y8-A898-01A-11D-A34Z-10	TCGA-Y8-A898-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c71a07f-83ad-4612-a896-217d2fde9904	b87bb919-a7fb-44d5-a76a-872cb44c2dc0	g.chr5:118484771T>C	ENST00000311085.8	+	18	3329	c.3249T>C	c.(3247-3249)tgT>tgC	p.C1083C	DMXL1_ENST00000539542.1_Silent_p.C1083C	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1083										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)		TTTTTGAATGTGAGTCAACAG	0.393																																																0													162	164	163					5																	118484771		2202	4300	6502	SO:0001819	synonymous_variant	1657			AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"WD repeat domain containing"	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.3249T>C	chr5.hg19:g.118484771T>C				Silent	SNP	ENST00000311085.8	hg19	CCDS4125.1																																																																																				0.393	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		C	118484771	T	C	118484771	2	2	820	1	0	0	0	0	0	0	0	1	4596	1702	59	3		3	DMXL1	5	118484771	Silent	SNP	T	TCGA-Y8-A898-01A-11D-A34Z-10		118484771	62430489	22	49306											
CTNNA1	1495	hgsc.bcm.edu	37	5	138145868	138145869	+	Missense_Mutation	DNP	AC	AC	CT			TCGA-Y8-A898-01A-11D-A34Z-10	TCGA-Y8-A898-10A-01D-A34Z-10	A|C	A|C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c71a07f-83ad-4612-a896-217d2fde9904	b87bb919-a7fb-44d5-a76a-872cb44c2dc0	g.chr5:138145868_138145869AC>CT	ENST00000302763.7	+	4	533_534	c.443_444AC>CT	c.(442-444)tAC>tCT	p.Y148S	CTNNA1_ENST00000355078.5_Missense_Mutation_p.Y45S|CTNNA1_ENST00000518825.1_Missense_Mutation_p.Y148S	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	148	Interaction with JUP and CTNNB1.|Involved in homodimerization.				adherens junction organization (GO:0034332)|aging (GO:0007568)|apical junction assembly (GO:0043297)|axon regeneration (GO:0031103)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular protein localization (GO:0034613)|cellular response to indole-3-methanol (GO:0071681)|epithelial cell-cell adhesion (GO:0090136)|establishment or maintenance of cell polarity (GO:0007163)|gap junction assembly (GO:0016264)|male gonad development (GO:0008584)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell motility (GO:2000146)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|negative regulation of neuroblast proliferation (GO:0007406)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of smoothened signaling pathway (GO:0045880)|protein heterooligomerization (GO:0051291)|response to estrogen (GO:0043627)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|catenin complex (GO:0016342)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|gamma-catenin binding (GO:0045295)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|vinculin binding (GO:0017166)			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GCAGATGTCTACAAATTACTTG	0.46																																																0																																										SO:0001583	missense	1495			D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115			2509	protein-coding gene	gene with protein product		116805	"catenin (cadherin-associated protein), alpha 1 (102kD)"			1924379	Standard	XM_005271898		Approved	CAP102	uc003ldh.3	P35221		Exception_encountered	chr5.hg19:g.138145868_138145869delinsCT	ENSP00000304669:p.Tyr148Ser		Q12795|Q8N1C0	Missense_Mutation|Silent	SNP	ENST00000302763.7	hg19	CCDS34243.1																																																																																				0.46	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373868.1	NM_001903		CT	138145869	AC	CT	138145868	3	2	820	1	0	0	0	0	1	0	0	0	4014	391	14	5	453	5	CTNNA1	5	138145868	Missense_Mutation	DNP	AC	TCGA-Y8-A898-01A-11D-A34Z-10	19661097	138145868	42769392	23	49307											
SKIV2L	6499	hgsc.bcm.edu	37	6	31930543	31930543	+	Missense_Mutation	SNP	T	T	G			TCGA-Y8-A898-01A-11D-A34Z-10	TCGA-Y8-A898-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c71a07f-83ad-4612-a896-217d2fde9904	b87bb919-a7fb-44d5-a76a-872cb44c2dc0	g.chr6:31930543T>G	ENST00000375394.2	+	12	1377	c.1264T>G	c.(1264-1266)Ttt>Gtt	p.F422V	SKIV2L_ENST00000544581.1_Missense_Mutation_p.F229V	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	422	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						GTGGGTCATCTTTGATGAGGT	0.557																																																0													136	128	131					6																	31930543		1511	2709	4220	SO:0001583	missense	6499				CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.1264T>G	chr6.hg19:g.31930543T>G	ENSP00000364543:p.Phe422Val		O15005|Q12902|Q15476|Q5ST66	Missense_Mutation	SNP	ENST00000375394.2	hg19	CCDS4731.1	.	.	.	.	.	.	.	.	.	.	T	31	5.081039	0.94050	.	.	ENSG00000204351	ENST00000375394;ENST00000433155;ENST00000544581	T;T	0.13538	2.58;2.58	5.49	5.49	0.81192	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.25975	0.0633	M	0.63208	1.945	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.01889	-1.1253	10	0.87932	D	0	-13.5265	14.575	0.68240	0.0:0.0:0.0:1.0	.	422	Q15477	SKIV2_HUMAN	V	422;264;229	ENSP00000364543:F422V;ENSP00000442645:F229V	ENSP00000364543:F422V	F	+	1	0	SKIV2L	32038522	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.359000	0.79477	2.094000	0.63399	0.533000	0.62120	TTT		0.557	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076264.3			G	31930543	T	G	31930543	3	3	820	1	0	0	0	0	1	0	0	0	14365	1609	56	5	1310	5	SKIV2L	6	31930543	Missense_Mutation	SNP	T	TCGA-Y8-A898-01A-11D-A34Z-10		31930543	139184524	24	49308											
HLA-DOB	3112	hgsc.bcm.edu	37	6	32783066	32783067	+	Frame_Shift_Ins	INS	-	-	C			TCGA-Y8-A898-01A-11D-A34Z-10	TCGA-Y8-A898-10A-01D-A34Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c71a07f-83ad-4612-a896-217d2fde9904	b87bb919-a7fb-44d5-a76a-872cb44c2dc0	g.chr6:32783066_32783067insC	ENST00000438763.2	-	2	211_212	c.115_116insG	c.(115-117)gctfs	p.A39fs	TAP2_ENST00000452392.2_Intron	NM_002120.3	NP_002111.1	P13765	DOB_HUMAN	major histocompatibility complex, class II, DO beta	39	Beta-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)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|MHC class II protein complex (GO:0042613)	MHC class II protein complex binding (GO:0023026)|MHC class II receptor activity (GO:0032395)			endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	9						GTAACAGTCAGCCTTTGCCTGA	0.46																																																0																																										SO:0001589	frameshift_variant	3112				CCDS4754.1	6p21.3	2013-01-11			ENSG00000241106	ENSG00000241106		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4937	protein-coding gene	gene with protein product		600629					Standard	NM_002120		Approved			P13765	OTTHUMG00000031213	ENST00000438763.2:c.116dupG	chr6.hg19:g.32783068_32783068dupC	ENSP00000390020:p.Ala39fs		B0V0Y0|Q29746|Q29825|Q6FHC2	Frame_Shift_Ins	INS	ENST00000438763.2	hg19	CCDS4754.1																																																																																				0.46	HLA-DOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076439.1	NM_002120		C	32783067	-	C	32783066	7	5	820	1	0	1	1	0	0	0	0	0	7203	971	34	0	725	0	HLA-DOB	6	32783066	Frame_Shift_Ins	INS	-	TCGA-Y8-A898-01A-11D-A34Z-10	852523	32783066	138332001	25	49309											
KIAA1244	57221	hgsc.bcm.edu	37	6	138615186	138615186	+	Missense_Mutation	SNP	A	A	C			TCGA-Y8-A898-01A-11D-A34Z-10	TCGA-Y8-A898-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c71a07f-83ad-4612-a896-217d2fde9904	b87bb919-a7fb-44d5-a76a-872cb44c2dc0	g.chr6:138615186A>C	ENST00000251691.4	+	20	3591	c.3425A>C	c.(3424-3426)tAc>tCc	p.Y1142S		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)		GGTTTTCTTTACCAGCTGAAG	0.423																																																0													153	138	143					6																	138615186		2203	4300	6503	SO:0001583	missense	57221			AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	21213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 33"		"chromosome 6 open reading frame 92"	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.3425A>C	chr6.hg19:g.138615186A>C	ENSP00000251691:p.Tyr1142Ser			Missense_Mutation	SNP	ENST00000251691.4	hg19	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	A	14.05	2.421030	0.42918	.	.	ENSG00000112379	ENST00000251691	T	0.16457	2.34	5.56	5.56	0.83823	.	0.467432	0.26828	N	0.022290	T	0.08846	0.0219	L	0.36672	1.1	0.49130	D	0.999755	B	0.32245	0.361	B	0.32980	0.156	T	0.07065	-1.0792	10	0.46703	T	0.11	-28.8225	15.7152	0.77663	1.0:0.0:0.0:0.0	.	1142	Q5TH69	BIG3_HUMAN	S	1142	ENSP00000251691:Y1142S	ENSP00000251691:Y1142S	Y	+	2	0	KIAA1244	138656879	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	8.516000	0.90552	2.119000	0.64992	0.533000	0.62120	TAC		0.423	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		C	138615186	A	C	138615186	3	2	820	1	0	0	0	0	1	0	0	0	8219	391	14	5	3503	5	KIAA1244	6	138615186	Missense_Mutation	SNP	A	TCGA-Y8-A898-01A-11D-A34Z-10	105832120	138615186	32499881	26	49310	532	2									
KIAA1244	57221	hgsc.bcm.edu	37	6	138615192	138615194	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-Y8-A898-01A-11D-A34Z-10	TCGA-Y8-A898-10A-01D-A34Z-10	TGA	TGA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c71a07f-83ad-4612-a896-217d2fde9904	b87bb919-a7fb-44d5-a76a-872cb44c2dc0	g.chr6:138615192_138615194delTGA	ENST00000251691.4	+	20	3597_3599	c.3431_3433delTGA	c.(3430-3435)ctgaag>cag	p.1144_1145LK>Q		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)		CTTTACCAGCTGAAGAAAGCATC	0.424																																																0																																										SO:0001651	inframe_deletion	57221			AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	21213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 33"		"chromosome 6 open reading frame 92"	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.3431_3433delTGA	chr6.hg19:g.138615192_138615194delTGA	ENSP00000251691:p.Leu1144_Lys1145delinsGln			In_Frame_Del	DEL	ENST00000251691.4	hg19	CCDS5189.2																																																																																				0.424	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		-	138615194	TGA	-	138615192	7	5	820	1	0	1	0	1	0	0	0	0	8219	1580	55	0	3509	0	KIAA1244	6	138615192	In_Frame_Del	DEL	TGA	TCGA-Y8-A898-01A-11D-A34Z-10	6	138615192	32499875	27	49311	532	2									
FNDC1	84624	hgsc.bcm.edu	37	6	159653341	159653341	+	Silent	SNP	G	G	A			TCGA-Y8-A898-01A-11D-A34Z-10	TCGA-Y8-A898-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c71a07f-83ad-4612-a896-217d2fde9904	b87bb919-a7fb-44d5-a76a-872cb44c2dc0	g.chr6:159653341G>A	ENST00000297267.9	+	11	1997	c.1797G>A	c.(1795-1797)aaG>aaA	p.K599K	FNDC1_ENST00000340366.6_Silent_p.K536K	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	599					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)		GCGTAGATAAGCCTGGCTTTT	0.701																																																0													20	25	24					6																	159653341		2008	4175	6183	SO:0001819	synonymous_variant	84624			AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"Fibronectin type III domain containing"	21184	protein-coding gene	gene with protein product		609991	"fibronectin type III domain containing 2"	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.1797G>A	chr6.hg19:g.159653341G>A			A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Silent	SNP	ENST00000297267.9	hg19	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	G	4.335	0.061579	0.08339	.	.	ENSG00000164694	ENST00000329629	.	.	.	4.54	1.64	0.23874	.	.	.	.	.	T	0.09291	0.0229	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.24657	-1.0154	4	.	.	.	-0.0117	2.6758	0.05081	0.2678:0.0:0.3704:0.3618	.	.	.	.	T	495	.	.	A	+	1	0	FNDC1	159573331	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	0.540000	0.23191	1.126000	0.42016	-0.140000	0.14226	GCC		0.701	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		A	159653341	G	A	159653341	2	1	820	1	0	0	0	0	0	0	0	1	5970	962	34	2		2	FNDC1	6	159653341	Silent	SNP	G	TCGA-Y8-A898-01A-11D-A34Z-10	21038149	159653341	11461726	28	49312											
POLM	27434	hgsc.bcm.edu	37	7	44116188	44116188	+	Missense_Mutation	SNP	T	T	A			TCGA-Y8-A898-01A-11D-A34Z-10	TCGA-Y8-A898-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c71a07f-83ad-4612-a896-217d2fde9904	b87bb919-a7fb-44d5-a76a-872cb44c2dc0	g.chr7:44116188T>A	ENST00000242248.5	-	6	856	c.755A>T	c.(754-756)gAc>gTc	p.D252V	POLM_ENST00000492971.1_5'UTR|POLM_ENST00000335195.6_Missense_Mutation_p.D252V|POLM_ENST00000395831.3_Intron	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	252					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						GTACCACCGGTCAGCAGTCTT	0.592								DNA polymerases (catalytic subunits)																																								0													114	107	109					7																	44116188		2203	4300	6503	SO:0001583	missense	27434			AF176097	CCDS34625.1, CCDS64635.1, CCDS64636.1	7p13	2012-05-18			ENSG00000122678	ENSG00000122678		"DNA polymerases"	9185	protein-coding gene	gene with protein product	"Pol iota"	606344				10982892	Standard	XM_005249708		Approved	Tdt-N	uc003tjt.3	Q9NP87	OTTHUMG00000155353	ENST00000242248.5:c.755A>T	chr7.hg19:g.44116188T>A	ENSP00000242248:p.Asp252Val		D3DVK4|Q6P5X8|Q86WQ9	Missense_Mutation	SNP	ENST00000242248.5	hg19	CCDS34625.1	.	.	.	.	.	.	.	.	.	.	T	16.81	3.225055	0.58668	.	.	ENSG00000122678	ENST00000335195;ENST00000242248	T;T	0.44881	0.91;0.91	5.68	4.49	0.54785	DNA-directed DNA polymerase X (1);DNA polymerase lambda, fingers domain (2);	.	.	.	.	T	0.55146	0.1902	L	0.58101	1.795	0.80722	D	1	D;D	0.62365	0.991;0.972	D;P	0.64877	0.93;0.824	T	0.56269	-0.8007	9	0.87932	D	0	.	8.717	0.34416	0.0:0.0875:0.0:0.9125	.	252;252	Q6P5X8;Q9NP87	.;DPOLM_HUMAN	V	252	ENSP00000335141:D252V;ENSP00000242248:D252V	ENSP00000242248:D252V	D	-	2	0	POLM	44082713	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.366000	0.34193	0.935000	0.37341	0.528000	0.53228	GAC		0.592	POLM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339594.1	NM_013284		A	44116188	T	A	44116188	3	1	820	1	0	0	0	0	1	0	0	0	12208	1667	58	5	753	5	POLM	7	44116188	Missense_Mutation	SNP	T	TCGA-Y8-A898-01A-11D-A34Z-10		44116188	115022475	29	49313											
MAGI2	9863	hgsc.bcm.edu	37	7	77764393	77764393	+	Silent	SNP	C	C	A			TCGA-Y8-A898-01A-11D-A34Z-10	TCGA-Y8-A898-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c71a07f-83ad-4612-a896-217d2fde9904	b87bb919-a7fb-44d5-a76a-872cb44c2dc0	g.chr7:77764393C>A	ENST00000354212.4	-	17	3229	c.2976G>T	c.(2974-2976)gtG>gtT	p.V992V	MAGI2_ENST00000419488.1_Silent_p.V978V|MAGI2_ENST00000522391.1_Silent_p.V992V	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	992	PDZ 5. {ECO:0000255|PROSITE- ProRule:PRU00143}.				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)			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)				TGATGAGCTTCACGATGTCAG	0.537																																																0													264	194	217					7																	77764393		2203	4300	6503	SO:0001819	synonymous_variant	9863			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.2976G>T	chr7.hg19:g.77764393C>A			A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Silent	SNP	ENST00000354212.4	hg19	CCDS5594.1																																																																																				0.537	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		A	77764393	C	A	77764393	2	1	820	1	0	0	0	0	0	0	0	1	9193	813	29	4		4	MAGI2	7	77764393	Silent	SNP	C	TCGA-Y8-A898-01A-11D-A34Z-10	33648205	77764393	81374270	30	49314											
CPA1	1357	hgsc.bcm.edu	37	7	130021580	130021594	+	In_Frame_Del	DEL	ATGAGACCATGATCG	ATGAGACCATGATCG	-			TCGA-Y8-A898-01A-11D-A34Z-10	TCGA-Y8-A898-10A-01D-A34Z-10	ATGAGACCATGATCG	ATGAGACCATGATCG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c71a07f-83ad-4612-a896-217d2fde9904	b87bb919-a7fb-44d5-a76a-872cb44c2dc0	g.chr7:130021580_130021594delATGAGACCATGATCG	ENST00000011292.3	+	3	407_421	c.257_271delATGAGACCATGATCG	c.(256-273)tatgagaccatgatcgag>tag	p.86_91YETMIE>*	CPA1_ENST00000484324.1_Start_Codon_Del	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	86					proteolysis (GO:0006508)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					GGCATCAGCTATGAGACCATGATCGAGGACGTGCA	0.637											OREG0018314	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0																																										SO:0001651	inframe_deletion	1357				CCDS5820.1	7q32	2012-02-10			ENSG00000091704	ENSG00000091704	3.4.17.1		2296	protein-coding gene	gene with protein product	"pancreatic carboxypeptidase A"	114850		CPA			Standard	NM_001868		Approved		uc003vpx.3	P15085	OTTHUMG00000157826	ENST00000011292.3:c.257_271delATGAGACCATGATCG	chr7.hg19:g.130021580_130021594delATGAGACCATGATCG	ENSP00000011292:p.Tyr86_Glu91delins*	1576	A4D1M1|Q53XU0|Q9BS67|Q9UCF2	In_Frame_Del	DEL	ENST00000011292.3	hg19	CCDS5820.1																																																																																				0.637	CPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349736.2	NM_001868		-	130021594	ATGAGACCATGATCG	-	130021580	7	5	820	1	0	1	0	1	0	0	0	0	3791	449	16	0	267	0	CPA1	7	130021580	In_Frame_Del	DEL	ATGAGACCATGATCG	TCGA-Y8-A898-01A-11D-A34Z-10	52257187	130021580	29117083	31	49315											
AMAC1L2	83650	hgsc.bcm.edu	37	8	11189416	11189416	+	Silent	SNP	C	C	T			TCGA-Y8-A898-01A-11D-A34Z-10	TCGA-Y8-A898-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c71a07f-83ad-4612-a896-217d2fde9904	b87bb919-a7fb-44d5-a76a-872cb44c2dc0	g.chr8:11189416C>T	ENST00000382435.4	+	1	1020	c.801C>T	c.(799-801)ttC>ttT	p.F267F		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	267						integral component of membrane (GO:0016021)											TGGTCTCCTTCACATGTGTGG	0.597																																																0													113	111	112					8																	11189416		2203	4300	6503	SO:0001819	synonymous_variant	83650			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.801C>T	chr8.hg19:g.11189416C>T			A2RRL6	Silent	SNP	ENST00000382435.4	hg19	CCDS5980.1																																																																																				0.597	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207313.2	NM_054028		T	11189416	C	T	11189416	2	4	820	1	0	0	0	0	0	0	0	1	560	825	29	2		2	AMAC1L2	8	11189416	Silent	SNP	C	TCGA-Y8-A898-01A-11D-A34Z-10		11189416	135174606	32	49316											
NRG1	3084	hgsc.bcm.edu	37	8	31497511	31497511	+	Missense_Mutation	SNP	G	G	C	rs367543150	byFrequency	TCGA-Y8-A898-01A-11D-A34Z-10	TCGA-Y8-A898-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c71a07f-83ad-4612-a896-217d2fde9904	b87bb919-a7fb-44d5-a76a-872cb44c2dc0	g.chr8:31497511G>C	ENST00000520407.1	+	1	241	c.11G>C	c.(10-12)cGa>cCa	p.R4P	NRG1_ENST00000519301.1_Intron	NM_013962.2	NP_039256.2	Q02297	NRG1_HUMAN	neuregulin 1	0					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		ATGAGATGGCGAcgcgccccg	0.761																																																0													2	2	2					8																	31497511		1218	2257	3475	SO:0001583	missense	3084			L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"Immunoglobulin superfamily / I-set domain containing"	7997	protein-coding gene	gene with protein product		142445	"NRG1 intronic transcript 2 (non-protein coding)"	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000520407.1:c.11G>C	chr8.hg19:g.31497511G>C	ENSP00000434640:p.Arg4Pro		A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Missense_Mutation	SNP	ENST00000520407.1	hg19	CCDS47836.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.919846	0.33908	.	.	ENSG00000157168	ENST00000520407	T	0.78707	-1.2	2.91	1.98	0.26296	.	.	.	.	.	T	0.61652	0.2364	.	.	.	0.80722	D	1	P	0.47409	0.895	B	0.34346	0.18	T	0.64339	-0.6431	8	0.87932	D	0	.	5.1615	0.15064	0.1749:0.0:0.8251:0.0	.	4	Q02297-9	.	P	4	ENSP00000434640:R4P	ENSP00000434640:R4P	R	+	2	0	NRG1	31617053	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	3.653000	0.54446	1.332000	0.45431	0.297000	0.19635	CGA		0.761	NRG1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376412.2			C	31497511	G	C	31497511	3	2	820	1	0	0	0	0	1	0	0	0	10649	1058	37	4	13	4	NRG1	8	31497511	Missense_Mutation	SNP	G	TCGA-Y8-A898-01A-11D-A34Z-10	20308095	31497511	114866511	33	49317											
ADAM32	203102	hgsc.bcm.edu	37	8	39044451	39044451	+	Missense_Mutation	SNP	G	G	C			TCGA-Y8-A898-01A-11D-A34Z-10	TCGA-Y8-A898-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c71a07f-83ad-4612-a896-217d2fde9904	b87bb919-a7fb-44d5-a76a-872cb44c2dc0	g.chr8:39044451G>C	ENST00000379907.4	+	11	1066	c.939G>C	c.(937-939)gaG>gaC	p.E313D	ADAM32_ENST00000437682.2_Intron|ADAM32_ENST00000519315.1_Intron	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	313	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					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)			TAACTCTGGAGGCATTTGCAG	0.353																																																0													77	73	74					8																	39044451		1813	4075	5888	SO:0001583	missense	203102			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.939G>C	chr8.hg19:g.39044451G>C	ENSP00000369238:p.Glu313Asp		Q8TC42	Missense_Mutation	SNP	ENST00000379907.4	hg19	CCDS47846.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.974271	0.34848	.	.	ENSG00000197140	ENST00000379907	T	0.10099	2.91	5.47	2.72	0.32119	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.33591	U	0.004753	T	0.24928	0.0605	M	0.81341	2.54	0.26818	N	0.968841	D	0.55172	0.97	D	0.63283	0.913	T	0.12218	-1.0556	10	0.15952	T	0.53	.	7.6636	0.28417	0.2647:0.0:0.7353:0.0	.	313	Q8TC27	ADA32_HUMAN	D	313	ENSP00000369238:E313D	ENSP00000369238:E313D	E	+	3	2	ADAM32	39163608	0.973000	0.33851	0.979000	0.43373	0.049000	0.14656	0.873000	0.28052	0.378000	0.24764	-0.142000	0.14014	GAG		0.353	ADAM32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377089.1	NM_145004		C	39044451	G	C	39044451	3	2	820	1	0	0	0	0	1	0	0	0	249	991	35	4	981	4	ADAM32	8	39044451	Missense_Mutation	SNP	G	TCGA-Y8-A898-01A-11D-A34Z-10	7546940	39044451	107319571	34	49318											
NKAIN3	286183	hgsc.bcm.edu	37	8	63659504	63659504	+	Missense_Mutation	SNP	T	T	A			TCGA-Y8-A898-01A-11D-A34Z-10	TCGA-Y8-A898-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c71a07f-83ad-4612-a896-217d2fde9904	b87bb919-a7fb-44d5-a76a-872cb44c2dc0	g.chr8:63659504T>A	ENST00000523211.1	+	4	419	c.287T>A	c.(286-288)aTg>aAg	p.M96K	NKAIN3_ENST00000328472.5_Missense_Mutation_p.M96K|NKAIN3_ENST00000519049.1_3'UTR	NM_173688.2	NP_775959.1	Q8N8D7	NKAI3_HUMAN	Na+/K+ transporting ATPase interacting 3	96						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(3)|large_intestine(2)|lung(8)	13	Breast(64;0.127)	Lung NSC(129;0.187)				ACCGATCTAATGACATTCAAT	0.463																																																0													121	116	117					8																	63659504		2002	4170	6172	SO:0001583	missense	286183			AK096949	CCDS55239.1	8q12.3	2014-08-12	2007-10-04	2007-10-04	ENSG00000185942	ENSG00000185942		"Na+/K+ transporting ATPase interacting"	26829	protein-coding gene	gene with protein product		612872	"family with sequence similarity 77, member D"	FAM77D		17606467	Standard	NM_173688		Approved	FLJ39630	uc010lyq.1	Q8N8D7	OTTHUMG00000164361	ENST00000523211.1:c.287T>A	chr8.hg19:g.63659504T>A	ENSP00000429073:p.Met96Lys			Missense_Mutation	SNP	ENST00000523211.1	hg19	CCDS55239.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.632134	0.87660	.	.	ENSG00000185942	ENST00000545532;ENST00000523211;ENST00000524201;ENST00000328472	T;T;T	0.15487	2.42;2.42;2.42	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.22166	0.0534	L	0.41824	1.3	0.54753	D	0.99998	P	0.44877	0.845	P	0.46172	0.506	T	0.00745	-1.1584	10	0.87932	D	0	-2.0704	15.1705	0.72869	0.0:0.0:0.0:1.0	.	96	Q8N8D7	NKAI3_HUMAN	K	96;96;69;96	ENSP00000429073:M96K;ENSP00000429393:M69K;ENSP00000333627:M96K	ENSP00000333627:M96K	M	+	2	0	NKAIN3	63822058	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.608000	0.82898	2.181000	0.69327	0.528000	0.53228	ATG		0.463	NKAIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378447.2	NM_173688		A	63659504	T	A	63659504	3	1	820	1	0	0	0	0	1	0	0	0	10439	1464	51	5	301	5	NKAIN3	8	63659504	Missense_Mutation	SNP	T	TCGA-Y8-A898-01A-11D-A34Z-10	24615053	63659504	82704518	35	49319											
COPS5	10987	hgsc.bcm.edu	37	8	67955532	67955532	+	Missense_Mutation	SNP	G	G	T			TCGA-Y8-A898-01A-11D-A34Z-10	TCGA-Y8-A898-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c71a07f-83ad-4612-a896-217d2fde9904	b87bb919-a7fb-44d5-a76a-872cb44c2dc0	g.chr8:67955532G>T	ENST00000357849.4	-	8	1261	c.941C>A	c.(940-942)gCt>gAt	p.A314D	PPP1R42_ENST00000517834.1_Intron|COPS5_ENST00000517736.1_3'UTR	NM_006837.2	NP_006828.2	Q92905	CSN5_HUMAN	COP9 signalosome subunit 5	314					cullin deneddylation (GO:0010388)|exosomal secretion (GO:1990182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein deneddylation (GO:0000338)|protein deubiquitination (GO:0016579)|regulation of cell cycle (GO:0051726)|regulation of JNK cascade (GO:0046328)|transcription from RNA polymerase II promoter (GO:0006366)|translation (GO:0006412)|translational initiation (GO:0006413)	cell junction (GO:0030054)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|eukaryotic translation initiation factor 3 complex (GO:0005852)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|transcription coactivator activity (GO:0003713)|translation initiation factor activity (GO:0003743)|ubiquitin-specific protease activity (GO:0004843)			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(3)	14	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00389)|OV - Ovarian serous cystadenocarcinoma(28;0.00691)|all cancers(69;0.0205)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TCCATGGATAGCTTCTATGGT	0.338																																																0													84	80	82					8																	67955532		2201	4300	6501	SO:0001583	missense	10987			U65928	CCDS6198.1	8q13.1	2013-03-14	2013-03-14		ENSG00000121022	ENSG00000121022			2240	protein-coding gene	gene with protein product		604850	"COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 5", "COP9 constitutive photomorphogenic homolog subunit 5 (Arabidopsis)"			8837781, 9341143	Standard	NM_006837		Approved	JAB1, SGN5, MOV-34, CSN5	uc003xxe.3	Q92905	OTTHUMG00000164563	ENST00000357849.4:c.941C>A	chr8.hg19:g.67955532G>T	ENSP00000350512:p.Ala314Asp		O15386|Q6AW95|Q86WQ4|Q9BQ17	Missense_Mutation	SNP	ENST00000357849.4	hg19	CCDS6198.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.319312	0.41096	.	.	ENSG00000121022	ENST00000357849	.	.	.	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.71400	0.3335	M	0.70903	2.155	0.80722	D	1	B	0.27380	0.177	B	0.37780	0.258	T	0.67102	-0.5755	9	0.22109	T	0.4	-10.6585	18.5697	0.91130	0.0:0.0:1.0:0.0	.	314	Q92905	CSN5_HUMAN	D	314	.	ENSP00000350512:A314D	A	-	2	0	COPS5	68118086	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.965000	0.87945	2.559000	0.86315	0.555000	0.69702	GCT		0.338	COPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379245.2			T	67955532	G	T	67955532	3	4	820	1	0	0	0	0	1	0	0	0	3738	971	34	4	67	4	COPS5	8	67955532	Missense_Mutation	SNP	G	TCGA-Y8-A898-01A-11D-A34Z-10	4296028	67955532	78408490	36	49320											
POLR2K	5440	hgsc.bcm.edu	37	8	101163593	101163593	+	Missense_Mutation	SNP	C	C	G			TCGA-Y8-A898-01A-11D-A34Z-10	TCGA-Y8-A898-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c71a07f-83ad-4612-a896-217d2fde9904	b87bb919-a7fb-44d5-a76a-872cb44c2dc0	g.chr8:101163593C>G	ENST00000353107.3	+	2	145	c.10C>G	c.(10-12)Cag>Gag	p.Q4E	POLR2K_ENST00000522439.1_Missense_Mutation_p.Q4E|POLR2K_ENST00000519765.1_3'UTR	NM_005034.3	NP_005025.1	P53803	RPAB4_HUMAN	polymerase (RNA) II (DNA directed) polypeptide K, 7.0kDa	4					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|RNA splicing (GO:0008380)|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 II promoter (GO:0006368)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase II, core complex (GO:0005665)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|prostate(1)	3	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.59e-09)|all cancers(13;1.74e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			AATGGACACCCAGAAGGACGT	0.393																																																0													100	99	99					8																	101163593		2203	4300	6503	SO:0001583	missense	5440				CCDS6285.1	8q22	2013-01-21	2002-08-29		ENSG00000147669	ENSG00000147669		"RNA polymerase subunits"	9198	protein-coding gene	gene with protein product		606033	"polymerase (RNA) II (DNA directed) polypeptide K (7.0kD)"				Standard	NM_005034		Approved	RPB10alpha	uc003yjf.3	P53803	OTTHUMG00000164705	ENST00000353107.3:c.10C>G	chr8.hg19:g.101163593C>G	ENSP00000342889:p.Gln4Glu		Q6IBD4	Missense_Mutation	SNP	ENST00000353107.3	hg19	CCDS6285.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.602006	0.66445	.	.	ENSG00000147669	ENST00000353107;ENST00000522439	.	.	.	5.96	5.96	0.96718	.	0.069273	0.64402	D	0.000017	T	0.54464	0.1860	.	.	.	0.51233	D	0.999916	B	0.13594	0.008	B	0.12156	0.007	T	0.44667	-0.9313	8	0.22706	T	0.39	.	20.017	0.97481	0.0:1.0:0.0:0.0	.	4	P53803	RPAB4_HUMAN	E	4	.	ENSP00000342889:Q4E	Q	+	1	0	POLR2K	101232769	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.451000	0.60047	2.832000	0.97577	0.655000	0.94253	CAG		0.393	POLR2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379849.1	NM_005034		G	101163593	C	G	101163593	3	3	820	1	0	0	0	0	1	0	0	0	12228	595	21	4	12	4	POLR2K	8	101163593	Missense_Mutation	SNP	C	TCGA-Y8-A898-01A-11D-A34Z-10	33208061	101163593	45200429	37	49321											
TRMT12	55039	hgsc.bcm.edu	37	8	125463695	125463695	+	Missense_Mutation	SNP	G	G	T			TCGA-Y8-A898-01A-11D-A34Z-10	TCGA-Y8-A898-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c71a07f-83ad-4612-a896-217d2fde9904	b87bb919-a7fb-44d5-a76a-872cb44c2dc0	g.chr8:125463695G>T	ENST00000328599.3	+	1	648	c.527G>T	c.(526-528)cGa>cTa	p.R176L	TRMT12_ENST00000521443.1_Intron	NM_017956.3	NP_060426.2	Q53H54	TYW2_HUMAN	tRNA methyltransferase 12 homolog (S. cerevisiae)	176					tRNA processing (GO:0008033)		transferase activity (GO:0016740)			breast(2)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TTGGCAAAACGAGGGCGGGTA	0.542																																																0													96	91	93					8																	125463695		2203	4300	6503	SO:0001583	missense	55039			AF313041	CCDS6349.1	8q24.13	2011-05-09	2006-11-16		ENSG00000183665	ENSG00000183665			26091	protein-coding gene	gene with protein product	"tRNA-yW synthesizing protein 2"	611244	"tRNA methyltranferase 12 homolog (S. cerevisiae)"			16005430, 17150819	Standard	NM_017956		Approved	FLJ20772, Trm12, TYW2	uc003yra.4	Q53H54	OTTHUMG00000165022	ENST00000328599.3:c.527G>T	chr8.hg19:g.125463695G>T	ENSP00000329858:p.Arg176Leu		Q6PKB9|Q96F21|Q9NWK6	Missense_Mutation	SNP	ENST00000328599.3	hg19	CCDS6349.1	.	.	.	.	.	.	.	.	.	.	G	19.18	3.777863	0.70107	.	.	ENSG00000183665	ENST00000328599	T	0.23950	1.88	4.65	3.76	0.43208	.	0.201412	0.45126	D	0.000382	T	0.26448	0.0646	L	0.45581	1.43	0.37375	D	0.911792	P	0.43973	0.823	P	0.47891	0.56	T	0.11567	-1.0582	10	0.35671	T	0.21	-10.3012	6.4557	0.21928	0.0944:0.0:0.7222:0.1834	.	176	Q53H54	TYW2_HUMAN	L	176	ENSP00000329858:R176L	ENSP00000329858:R176L	R	+	2	0	TRMT12	125532876	1.000000	0.71417	0.968000	0.41197	0.984000	0.73092	3.567000	0.53813	1.245000	0.43885	0.561000	0.74099	CGA		0.542	TRMT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381465.1	NM_017956		T	125463695	G	T	125463695	3	4	820	1	0	0	0	0	1	0	0	0	16569	1058	37	4	529	4	TRMT12	8	125463695	Missense_Mutation	SNP	G	TCGA-Y8-A898-01A-11D-A34Z-10	24300102	125463695	20900327	38	49322											
QSOX2	169714	hgsc.bcm.edu	37	9	139100813	139100813	+	Missense_Mutation	SNP	C	C	A			TCGA-Y8-A898-01A-11D-A34Z-10	TCGA-Y8-A898-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c71a07f-83ad-4612-a896-217d2fde9904	b87bb919-a7fb-44d5-a76a-872cb44c2dc0	g.chr9:139100813C>A	ENST00000358701.5	-	12	1895	c.1858G>T	c.(1858-1860)Gcc>Tcc	p.A620S		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	620					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)		TCTGGAAGGGCAGGCCTGGGG	0.657																																																0													69	68	68					9																	139100813		2203	4300	6503	SO:0001583	missense	169714			AJ318051	CCDS35178.1	9q34.3	2008-02-05	2007-04-23	2007-04-23	ENSG00000165661	ENSG00000165661			30249	protein-coding gene	gene with protein product		612860	"quiescin Q6-like 1"	QSCN6L1		12176051	Standard	NM_181701		Approved	SOXN, DKFZp762A2013	uc010nbi.2	Q6ZRP7	OTTHUMG00000020923	ENST00000358701.5:c.1858G>T	chr9.hg19:g.139100813C>A	ENSP00000351536:p.Ala620Ser		A2CEE0|A6NLB0|Q5TB37|Q7Z7B6|Q86VV7|Q8N3G2	Missense_Mutation	SNP	ENST00000358701.5	hg19	CCDS35178.1	.	.	.	.	.	.	.	.	.	.	C	3.024	-0.201068	0.06219	.	.	ENSG00000165661	ENST00000358701	T	0.04809	3.55	4.38	-1.36	0.09085	.	5.338950	0.00508	N	0.000160	T	0.03095	0.0091	N	0.08118	0	0.09310	N	1	B	0.25105	0.118	B	0.19946	0.027	T	0.43376	-0.9395	10	0.08179	T	0.78	2.4215	12.0025	0.53240	0.0:0.6163:0.269:0.1147	.	620	Q6ZRP7	QSOX2_HUMAN	S	620	ENSP00000351536:A620S	ENSP00000351536:A620S	A	-	1	0	QSOX2	138240634	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.007000	0.13174	-0.531000	0.06340	-0.448000	0.05591	GCC		0.657	QSOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055046.2	NM_181701		A	139100813	C	A	139100813	3	1	820	1	0	0	0	0	1	0	0	0	12890	710	25	4	242	4	QSOX2	9	139100813	Missense_Mutation	SNP	C	TCGA-Y8-A898-01A-11D-A34Z-10		139100813	2112618	39	49323											
MYO3A	53904	hgsc.bcm.edu	37	10	26385347	26385347	+	Missense_Mutation	SNP	G	G	C			TCGA-Y8-A898-01A-11D-A34Z-10	TCGA-Y8-A898-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c71a07f-83ad-4612-a896-217d2fde9904	b87bb919-a7fb-44d5-a76a-872cb44c2dc0	g.chr10:26385347G>C	ENST00000265944.5	+	16	1766	c.1600G>C	c.(1600-1602)Gct>Cct	p.A534P	MYO3A_ENST00000543632.1_Missense_Mutation_p.A534P	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	534	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						CTACATTTATGCTGGTTTGGC	0.323																																																0													51	55	53					10																	26385347		2200	4298	6498	SO:0001583	missense	53904			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.1600G>C	chr10.hg19:g.26385347G>C	ENSP00000265944:p.Ala534Pro		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	hg19	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.126447	0.77549	.	.	ENSG00000095777	ENST00000265944;ENST00000543632	D;D	0.89196	-2.48;-2.48	5.13	4.23	0.50019	Myosin head, motor domain (2);	0.049751	0.85682	D	0.000000	D	0.95692	0.8599	H	0.95470	3.675	0.80722	D	1	D;D;D	0.57899	0.971;0.977;0.981	P;P;D	0.69142	0.763;0.847;0.962	D	0.96034	0.9019	10	0.48119	T	0.1	.	13.983	0.64317	0.0734:0.0:0.9266:0.0	.	534;534;534	F5H0U9;Q0VD65;Q8NEV4	.;.;MYO3A_HUMAN	P	534	ENSP00000265944:A534P;ENSP00000445909:A534P	ENSP00000265944:A534P	A	+	1	0	MYO3A	26425353	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.600000	0.82769	1.304000	0.44892	0.655000	0.94253	GCT		0.323	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		C	26385347	G	C	26385347	3	2	820	1	0	0	0	0	1	0	0	0	10078	1319	46	4	1654	4	MYO3A	10	26385347	Missense_Mutation	SNP	G	TCGA-Y8-A898-01A-11D-A34Z-10		26385347	109149400	40	49324											
MUC15	143662	hgsc.bcm.edu	37	11	26582626	26582626	+	Missense_Mutation	SNP	G	G	T	rs375176901		TCGA-Y8-A898-01A-11D-A34Z-10	TCGA-Y8-A898-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c71a07f-83ad-4612-a896-217d2fde9904	b87bb919-a7fb-44d5-a76a-872cb44c2dc0	g.chr11:26582626G>T	ENST00000455601.2	-	4	1109	c.991C>A	c.(991-993)Cgt>Agt	p.R331S	MUC15_ENST00000281268.8_Missense_Mutation_p.R308S|MUC15_ENST00000529533.1_Missense_Mutation_p.R358S|ANO3_ENST00000525139.1_Intron|ANO3_ENST00000529242.1_Intron|MUC15_ENST00000436318.2_Missense_Mutation_p.R358S|MUC15_ENST00000527569.1_Missense_Mutation_p.R308S|ANO3_ENST00000537978.1_Intron|ANO3_ENST00000531568.1_Intron|ANO3_ENST00000256737.3_Intron	NM_145650.3	NP_663625.2	Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	331					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						ACAGAAGTACGAAGTGGAGGT	0.383																																																0													180	165	170					11																	26582626		2203	4300	6503	SO:0001583	missense	143662			AJ417818	CCDS7859.1, CCDS44556.1, CCDS44557.1	11p14.3	2007-01-17	2006-03-14					"Mucins"	14956	protein-coding gene	gene with protein product		608566				12047385	Standard	NM_145650		Approved		uc001mqw.3	Q8N387		ENST00000455601.2:c.991C>A	chr11.hg19:g.26582626G>T	ENSP00000397339:p.Arg331Ser		B3KY00|E9PII6|F8W945|Q6UWS3|Q8IXI8|Q8WW41	Missense_Mutation	SNP	ENST00000455601.2	hg19	CCDS7859.1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.569502	0.65765	.	.	ENSG00000169550	ENST00000455601;ENST00000436318;ENST00000281268;ENST00000529533;ENST00000527569	T;T;T;T;T	0.39229	1.14;1.09;1.14;1.09;1.14	5.33	5.33	0.75918	.	0.000000	0.49916	D	0.000136	T	0.55641	0.1933	L	0.32530	0.975	0.19300	N	0.999979	D;D;D	0.89917	1.0;0.998;0.998	D;D;D	0.79108	0.992;0.955;0.955	T	0.52260	-0.8599	10	0.87932	D	0	-10.0199	18.1491	0.89668	0.0:0.0:1.0:0.0	.	308;331;358	F8W945;Q8N387;E9PII6	.;MUC15_HUMAN;.	S	331;358;308;358;308	ENSP00000397339:R331S;ENSP00000416753:R358S;ENSP00000281268:R308S;ENSP00000431983:R358S;ENSP00000431945:R308S	ENSP00000281268:R308S	R	-	1	0	MUC15	26539202	0.953000	0.32496	0.797000	0.32132	0.278000	0.26855	3.311000	0.51919	2.652000	0.90054	0.591000	0.81541	CGT		0.383	MUC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387866.1	NM_145650		T	26582626	G	T	26582626	3	4	820	1	0	0	0	0	1	0	0	0	9974	1058	37	4	17	4	MUC15	11	26582626	Missense_Mutation	SNP	G	TCGA-Y8-A898-01A-11D-A34Z-10		26582626	108423890	41	49325											
KIAA0652	9776	hgsc.bcm.edu	37	11	46671731	46671731	+	Missense_Mutation	SNP	G	G	A			TCGA-Y8-A898-01A-11D-A34Z-10	TCGA-Y8-A898-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c71a07f-83ad-4612-a896-217d2fde9904	b87bb919-a7fb-44d5-a76a-872cb44c2dc0	g.chr11:46671731G>A	ENST00000434074.1	+	6	1011	c.322G>A	c.(322-324)Gat>Aat	p.D108N	ATG13_ENST00000451945.1_Missense_Mutation_p.D108N|ATG13_ENST00000312040.4_Missense_Mutation_p.D108N|ATG13_ENST00000526508.1_Missense_Mutation_p.D108N|ATG13_ENST00000524625.1_Missense_Mutation_p.D108N|ATG13_ENST00000528494.1_Missense_Mutation_p.D108N|ATG13_ENST00000359513.4_Missense_Mutation_p.D108N|ATG13_ENST00000529655.1_Missense_Mutation_p.D108N|ATG13_ENST00000530500.1_Missense_Mutation_p.D29N	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN	autophagy related 13	108					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						TGGCAGGTGTGATAAAGAAAT	0.428																																																0													114	108	110					11																	46671731		2201	4299	6500	SO:0001583	missense	9776			AB014552	CCDS7921.1, CCDS44582.1, CCDS55760.1, CCDS55761.1	11p11.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000175224	ENSG00000175224			29091	protein-coding gene	gene with protein product		615088	"KIAA0652", "ATG13 autophagy related 13 homolog (S. cerevisiae)"	KIAA0652		15169610, 18339812, 17204848	Standard	NM_001205120		Approved		uc001nda.3	O75143	OTTHUMG00000166538	ENST00000434074.1:c.322G>A	chr11.hg19:g.46671731G>A	ENSP00000400642:p.Asp108Asn		B4DFI4|D3DQQ1|D3DQQ2|E9PQZ8|Q53EN6|Q9BRL3|Q9H8B0	Missense_Mutation	SNP	ENST00000434074.1	hg19	CCDS44582.1	.	.	.	.	.	.	.	.	.	.	G	35	5.431312	0.96150	.	.	ENSG00000175224	ENST00000395549;ENST00000434074;ENST00000312040;ENST00000451945;ENST00000529655;ENST00000533325;ENST00000530500;ENST00000526508;ENST00000524625;ENST00000359513;ENST00000528494;ENST00000526078	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.75339	0.3836	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	0.996;0.997;0.997;0.983	T	0.73126	-0.4081	9	0.42905	T	0.14	-12.925	19.7319	0.96186	0.0:0.0:1.0:0.0	.	29;108;108;108	B4DFI4;O75143;E9PQZ8;O75143-2	.;ATG13_HUMAN;.;.	N	108;108;108;108;108;108;29;108;108;108;108;108	.	ENSP00000310321:D108N	D	+	1	0	ATG13	46628307	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.827000	0.99397	2.668000	0.90789	0.655000	0.94253	GAT		0.428	ATG13-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390300.2	NM_014741		A	46671731	G	A	46671731	3	1	820	1	0	0	0	0	1	0	0	0	8190	1290	45	2	340	2	KIAA0652	11	46671731	Missense_Mutation	SNP	G	TCGA-Y8-A898-01A-11D-A34Z-10	20089105	46671731	88334785	42	49326											
MADD	8567	hgsc.bcm.edu	37	11	47298344	47298344	+	Missense_Mutation	SNP	T	T	A			TCGA-Y8-A898-01A-11D-A34Z-10	TCGA-Y8-A898-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c71a07f-83ad-4612-a896-217d2fde9904	b87bb919-a7fb-44d5-a76a-872cb44c2dc0	g.chr11:47298344T>A	ENST00000311027.5	+	5	1190	c.1025T>A	c.(1024-1026)aTg>aAg	p.M342K	MADD_ENST00000395336.3_Missense_Mutation_p.M342K|MADD_ENST00000406482.1_Missense_Mutation_p.M342K|MADD_ENST00000402799.1_Missense_Mutation_p.M342K|MADD_ENST00000342922.4_Missense_Mutation_p.M342K|MADD_ENST00000407859.3_Missense_Mutation_p.M342K|MADD_ENST00000349238.3_Missense_Mutation_p.M342K|MADD_ENST00000402192.2_Missense_Mutation_p.M342K|MADD_ENST00000395344.3_Missense_Mutation_p.M342K|MADD_ENST00000489415.1_3'UTR	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)		TTCGTGGCAATGATCTACCCA	0.512																																																0													286	217	241					11																	47298344		2201	4298	6499	SO:0001583	missense	8567			AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"DENN/MADD domain containing"	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.1025T>A	chr11.hg19:g.47298344T>A	ENSP00000310933:p.Met342Lys			Missense_Mutation	SNP	ENST00000311027.5	hg19	CCDS7930.1	.	.	.	.	.	.	.	.	.	.	T	30	5.056526	0.93793	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000428807;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192	T;T;T;T;T;T;T;T;T;T	0.11821	2.74;2.74;2.74;2.74;2.74;2.74;2.74;2.74;2.74;2.74	5.93	5.93	0.95920	DENN (3);	0.000000	0.85682	D	0.000000	T	0.40372	0.1114	M	0.79258	2.445	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.65815	0.992;0.98;0.995;0.988;0.988;0.988;0.988;0.994;0.99;0.995	D;P;D;P;P;P;P;D;D;D	0.74348	0.91;0.845;0.961;0.836;0.836;0.836;0.883;0.983;0.952;0.962	T	0.27640	-1.0068	10	0.87932	D	0	-26.4751	16.3943	0.83563	0.0:0.0:0.0:1.0	.	342;342;342;342;342;342;342;342;342;342	B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;MADD_HUMAN;.	K	342;342;120;342;342;342;342;342;342;342;342	ENSP00000343902:M342K;ENSP00000398167:M120K;ENSP00000385585:M342K;ENSP00000384435:M342K;ENSP00000304505:M342K;ENSP00000310933:M342K;ENSP00000384204:M342K;ENSP00000378753:M342K;ENSP00000378745:M342K;ENSP00000384287:M342K	ENSP00000310933:M342K	M	+	2	0	MADD	47254920	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.698000	0.84413	2.281000	0.76405	0.533000	0.62120	ATG		0.512	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1			A	47298344	T	A	47298344	3	1	820	1	0	0	0	0	1	0	0	0	9154	1464	51	5	1039	5	MADD	11	47298344	Missense_Mutation	SNP	T	TCGA-Y8-A898-01A-11D-A34Z-10	626613	47298344	87708172	43	49327											
DDB1	1642	hgsc.bcm.edu	37	11	61079364	61079364	+	Silent	SNP	C	C	T			TCGA-Y8-A898-01A-11D-A34Z-10	TCGA-Y8-A898-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c71a07f-83ad-4612-a896-217d2fde9904	b87bb919-a7fb-44d5-a76a-872cb44c2dc0	g.chr11:61079364C>T	ENST00000301764.7	-	18	2566	c.2169G>A	c.(2167-2169)aaG>aaA	p.K723K	DDB1_ENST00000545930.1_5'Flank|DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	723	Interaction with CDT1.|WD repeat beta-propeller C.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						GGTAGCAGATCTTCCTGCAGA	0.567								Nucleotide excision repair (NER)																																								0													109	101	104					11																	61079364		2203	4299	6502	SO:0001819	synonymous_variant	1642			AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"damage-specific DNA binding protein 1 (127kD)"			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.2169G>A	chr11.hg19:g.61079364C>T			A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Silent	SNP	ENST00000301764.7	hg19	CCDS31576.1																																																																																				0.567	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923		T	61079364	C	T	61079364	2	4	820	1	0	0	0	0	0	0	0	1	4325	912	32	2		2	DDB1	11	61079364	Silent	SNP	C	TCGA-Y8-A898-01A-11D-A34Z-10	13781020	61079364	73927152	44	49328											
MAP4K2	5871	hgsc.bcm.edu	37	11	64557689	64557689	+	Missense_Mutation	SNP	A	A	G			TCGA-Y8-A898-01A-11D-A34Z-10	TCGA-Y8-A898-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c71a07f-83ad-4612-a896-217d2fde9904	b87bb919-a7fb-44d5-a76a-872cb44c2dc0	g.chr11:64557689A>G	ENST00000294066.2	-	29	2310	c.2219T>C	c.(2218-2220)cTg>cCg	p.L740P	MAP4K2_ENST00000377350.3_Missense_Mutation_p.L732P	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	740	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JUN kinase activity (GO:0007257)|immune response (GO:0006955)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|positive regulation of JNK cascade (GO:0046330)|protein phosphorylation (GO:0006468)|vesicle targeting (GO:0006903)	Golgi membrane (GO:0000139)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						ATCAAAGGTCAGCTCAGGTGC	0.632																																																0													118	107	111					11																	64557689		2201	4297	6498	SO:0001583	missense	5871			BC047865	CCDS8082.1	11q13.1	2011-06-09			ENSG00000168067	ENSG00000168067		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6864	protein-coding gene	gene with protein product		603166		RAB8IP		7515885	Standard	NM_004579		Approved	GCK, BL44	uc001obh.3	Q12851	OTTHUMG00000045328	ENST00000294066.2:c.2219T>C	chr11.hg19:g.64557689A>G	ENSP00000294066:p.Leu740Pro		Q86VU3	Missense_Mutation	SNP	ENST00000294066.2	hg19	CCDS8082.1	.	.	.	.	.	.	.	.	.	.	A	16.08	3.022010	0.54576	.	.	ENSG00000168067	ENST00000294066;ENST00000377350	T;T	0.08370	3.1;3.1	5.28	5.28	0.74379	Citron-like (3);	0.090204	0.46442	D	0.000281	T	0.23766	0.0575	L	0.58510	1.815	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.75484	0.961;0.986	T	0.00415	-1.1753	10	0.87932	D	0	.	11.6762	0.51432	1.0:0.0:0.0:0.0	.	732;740	Q86VU3;Q12851	.;M4K2_HUMAN	P	740;732	ENSP00000294066:L740P;ENSP00000366567:L732P	ENSP00000294066:L740P	L	-	2	0	MAP4K2	64314265	1.000000	0.71417	0.995000	0.50966	0.867000	0.49689	7.737000	0.84957	2.019000	0.59389	0.454000	0.30748	CTG		0.632	MAP4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105239.1	NM_004579		G	64557689	A	G	64557689	3	3	820	1	0	0	0	0	1	0	0	0	9262	188	7	3	259	3	MAP4K2	11	64557689	Missense_Mutation	SNP	A	TCGA-Y8-A898-01A-11D-A34Z-10	3478325	64557689	70448827	45	49329											
MAML2	84441	hgsc.bcm.edu	37	11	95825254	95825254	+	Silent	SNP	C	C	T	rs61749250		TCGA-Y8-A898-01A-11D-A34Z-10	TCGA-Y8-A898-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c71a07f-83ad-4612-a896-217d2fde9904	b87bb919-a7fb-44d5-a76a-872cb44c2dc0	g.chr11:95825254C>T	ENST00000524717.1	-	2	3225	c.1941G>A	c.(1939-1941)caG>caA	p.Q647Q		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	647					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.Q647Q(1)	CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				gctgctgctgctgttgttgct	0.512			T	"MECT1, CRTC3"	salivary gland mucoepidermoid																																		Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	1	Substitution - coding silent(1)	endometrium(1)						C		0,4198		0,0,2099	35	40	38		1941	1.7	0.1	11	dbSNP_129	38	5,8237		0,5,4116	no	coding-synonymous	MAML2	NM_032427.1		0,5,6215	TT,TC,CC		0.0607,0.0,0.0402		647/1157	95825254	5,12435	2099	4121	6220	SO:0001819	synonymous_variant	84441			AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"mastermind (Drosophila)-like 2"			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.1941G>A	chr11.hg19:g.95825254C>T			A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Silent	SNP	ENST00000524717.1	hg19	CCDS44714.1																																																																																				0.512	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1			T	95825254	C	T	95825254	2	4	820	1	0	0	0	0	0	0	0	1	9208	796	28	2		2	MAML2	11	95825254	Silent	SNP	C	TCGA-Y8-A898-01A-11D-A34Z-10	31267565	95825254	39181262	46	49330											
DYNC2H1	79659	hgsc.bcm.edu	37	11	103128412	103128412	+	Missense_Mutation	SNP	A	A	G			TCGA-Y8-A898-01A-11D-A34Z-10	TCGA-Y8-A898-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c71a07f-83ad-4612-a896-217d2fde9904	b87bb919-a7fb-44d5-a76a-872cb44c2dc0	g.chr11:103128412A>G	ENST00000375735.2	+	69	10681	c.10537A>G	c.(10537-10539)Aat>Gat	p.N3513D	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.N3520D|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	3513					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)		GTCCAAAATTAATAACATGTA	0.443																																																0													146	133	137					11																	103128412		1861	4099	5960	SO:0001583	missense	79659			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.10537A>G	chr11.hg19:g.103128412A>G	ENSP00000364887:p.Asn3513Asp		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	hg19	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	A	31	5.077452	0.94000	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.36520	1.25;1.25	6.06	6.06	0.98353	.	0.152305	0.56097	D	0.000024	T	0.48447	0.1500	L	0.45228	1.405	0.80722	D	1	P;D	0.64830	0.931;0.994	P;P	0.61592	0.688;0.891	T	0.26087	-1.0113	10	0.19590	T	0.45	.	16.6093	0.84858	1.0:0.0:0.0:0.0	.	3513;3520	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	D	3513;3520	ENSP00000364887:N3513D;ENSP00000381167:N3520D	ENSP00000364887:N3513D	N	+	1	0	DYNC2H1	102633622	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.228000	0.95250	2.324000	0.78689	0.533000	0.62120	AAT		0.443	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		G	103128412	A	G	103128412	3	3	820	1	0	0	0	0	1	0	0	0	4848	362	13	3	10836	3	DYNC2H1	11	103128412	Missense_Mutation	SNP	A	TCGA-Y8-A898-01A-11D-A34Z-10	7303158	103128412	31878104	47	49331											
SIK3	23387	hgsc.bcm.edu	37	11	116717228	116717228	+	Missense_Mutation	SNP	T	T	C			TCGA-Y8-A898-01A-11D-A34Z-10	TCGA-Y8-A898-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c71a07f-83ad-4612-a896-217d2fde9904	b87bb919-a7fb-44d5-a76a-872cb44c2dc0	g.chr11:116717228T>C	ENST00000292055.4	-	23	3711	c.3676A>G	c.(3676-3678)Agt>Ggt	p.S1226G	SIK3_ENST00000434315.2_Missense_Mutation_p.S1065G|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000446921.2_Missense_Mutation_p.S1224G|AP006216.12_ENST00000444200.1_RNA|SIK3_ENST00000542607.1_Missense_Mutation_p.S1166G|SIK3_ENST00000375300.1_Missense_Mutation_p.S1284G|SIK3_ENST00000375288.1_Missense_Mutation_p.S561G	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	1226					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						CTGCCATCACTCAGGTCTGGG	0.517																																																0													145	123	130					11																	116717228		2201	4292	6493	SO:0001583	missense	23387			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.3676A>G	chr11.hg19:g.116717228T>C	ENSP00000292055:p.Ser1226Gly		A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Missense_Mutation	SNP	ENST00000292055.4	hg19	CCDS8379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.38|11.38	1.620458|1.620458	0.28801|0.28801	.|.	.|.	ENSG00000160584|ENSG00000160584	ENST00000445177;ENST00000446921|ENST00000375300;ENST00000292055;ENST00000375288;ENST00000542607;ENST00000434315	.|T;T;T;T;T	.|0.70869	.|-0.46;-0.5;1.46;-0.52;-0.12	5.13|5.13	0.277|0.277	0.15668|0.15668	.|.	.|0.839139	.|0.09863	.|N	.|0.745920	T|T	0.42177|0.42177	0.1191|0.1191	N|N	0.04880|0.04880	-0.145|-0.145	0.09310|0.09310	N|N	1|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|T	0.26744|0.26744	-1.0094|-1.0094	5|10	.|0.02654	.|T	.|1	.|.	8.8093|8.8093	0.34956|0.34956	0.0:0.5814:0.0:0.4186|0.0:0.5814:0.0:0.4186	.|.	.|1166;1065;1226;561	.|A1A5A8;A1A5A9;Q9Y2K2;Q9Y2K2-2	.|.;.;SIK3_HUMAN;.	G|G	1325;1188|1284;1226;561;1166;1065	.|ENSP00000364449:S1284G;ENSP00000292055:S1226G;ENSP00000364437:S561G;ENSP00000438108:S1166G;ENSP00000415873:S1065G	.|ENSP00000292055:S1226G	E|S	-|-	2|1	0|0	SIK3|SIK3	116222438|116222438	0.561000|0.561000	0.26578|0.26578	0.405000|0.405000	0.26409|0.26409	0.996000|0.996000	0.88848|0.88848	0.821000|0.821000	0.27338|0.27338	0.012000|0.012000	0.14892|0.14892	0.533000|0.533000	0.62120|0.62120	GAG|AGT		0.517	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164		C	116717228	T	C	116717228	3	2	820	1	0	0	0	0	1	0	0	0	14325	1551	54	3	119	3	SIK3	11	116717228	Missense_Mutation	SNP	T	TCGA-Y8-A898-01A-11D-A34Z-10	13588816	116717228	18289288	48	49332											
ATN1	1822	hgsc.bcm.edu	37	12	7045900	7045900	+	Missense_Mutation	SNP	G	G	C	rs377147612|rs60216939		TCGA-Y8-A898-01A-11D-A34Z-10	TCGA-Y8-A898-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c71a07f-83ad-4612-a896-217d2fde9904	b87bb919-a7fb-44d5-a76a-872cb44c2dc0	g.chr12:7045900G>C	ENST00000356654.4	+	5	1707	c.1470G>C	c.(1468-1470)caG>caC	p.Q490H	ATN1_ENST00000396684.2_Missense_Mutation_p.Q490H	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	490	Poly-Gln.				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						aacagcagcagcagcagcagc	0.642																																																0													50	62	58					12																	7045900		2202	4291	6493	SO:0001583	missense	1822			U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"dentatorubral-pallidoluysian atrophy (atrophin-1)"	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.1470G>C	chr12.hg19:g.7045900G>C	ENSP00000349076:p.Gln490His		Q99495|Q99621|Q9UEK7	Missense_Mutation	SNP	ENST00000356654.4	hg19	CCDS31734.1	.	.	.	.	.	.	.	.	.	.	g	0.018	-1.486452	0.01018	.	.	ENSG00000111676	ENST00000356654;ENST00000396684;ENST00000544325;ENST00000229279	T;T;T	0.50277	0.75;0.75;0.75	2.95	-0.471	0.12119	.	.	.	.	.	T	0.19167	0.0460	N	0.08118	0	0.22412	N	0.999122	B	0.02656	0.0	B	0.04013	0.001	T	0.19614	-1.0300	9	0.15499	T	0.54	.	0.8057	0.01084	0.255:0.248:0.3392:0.1578	.	490	P54259	ATN1_HUMAN	H	490;490;490;75	ENSP00000349076:Q490H;ENSP00000379915:Q490H;ENSP00000441744:Q490H	ENSP00000229279:Q75H	Q	+	3	2	ATN1	6916161	0.012000	0.17670	0.065000	0.19835	0.080000	0.17528	0.084000	0.14891	0.105000	0.17753	-0.342000	0.07992	CAG		0.642	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		C	7045900	G	C	7045900	3	2	820	1	0	0	0	0	1	0	0	0	1111	962	34	4	1484	4	ATN1	12	7045900	Missense_Mutation	SNP	G	TCGA-Y8-A898-01A-11D-A34Z-10		7045900	126805995	49	49333											
OR6C75	390323	hgsc.bcm.edu	37	12	55759766	55759767	+	Frame_Shift_Ins	INS	-	-	A			TCGA-Y8-A898-01A-11D-A34Z-10	TCGA-Y8-A898-10A-01D-A34Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c71a07f-83ad-4612-a896-217d2fde9904	b87bb919-a7fb-44d5-a76a-872cb44c2dc0	g.chr12:55759766_55759767insA	ENST00000343399.3	+	1	872_873	c.872_873insA	c.(871-876)agaaatfs	p.N292fs		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	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(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						TACACACTGAGAAATAAGCAAG	0.391																																																0																																										SO:0001589	frameshift_variant	390323				CCDS31820.1	12q13.2	2013-09-23			ENSG00000187857	ENSG00000187857		"GPCR / Class A : Olfactory receptors"	31304	protein-coding gene	gene with protein product							Standard	NM_001005497		Approved		uc010spk.2	A6NL08	OTTHUMG00000169886	ENST00000343399.3:c.875dupA	chr12.hg19:g.55759769_55759769dupA	ENSP00000368987:p.Asn292fs			Frame_Shift_Ins	INS	ENST00000343399.3	hg19	CCDS31820.1																																																																																				0.391	OR6C75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406418.1			A	55759767	-	A	55759766	7	5	820	1	0	1	1	0	0	0	0	0	11201	942	33	0	874	0	OR6C75	12	55759766	Frame_Shift_Ins	INS	-	TCGA-Y8-A898-01A-11D-A34Z-10	48713866	55759766	78092129	50	49334											
PLBD2	196463	hgsc.bcm.edu	37	12	113825565	113825565	+	Missense_Mutation	SNP	C	C	T			TCGA-Y8-A898-01A-11D-A34Z-10	TCGA-Y8-A898-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c71a07f-83ad-4612-a896-217d2fde9904	b87bb919-a7fb-44d5-a76a-872cb44c2dc0	g.chr12:113825565C>T	ENST00000280800.3	+	11	1487	c.1456C>T	c.(1456-1458)Cat>Tat	p.H486Y	PLBD2_ENST00000545182.2_Missense_Mutation_p.H454Y	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	486					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						TGACTTCCTCCATGACCCTCT	0.592																																																0													331	324	326					12																	113825565		2203	4300	6503	SO:0001583	missense	196463			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.1456C>T	chr12.hg19:g.113825565C>T	ENSP00000280800:p.His486Tyr		F5H5E2	Missense_Mutation	SNP	ENST00000280800.3	hg19	CCDS9168.1	.	.	.	.	.	.	.	.	.	.	C	14.00	2.405656	0.42715	.	.	ENSG00000151176	ENST00000545182;ENST00000280800	T;T	0.17691	2.26;2.26	5.07	5.07	0.68467	.	0.296342	0.38272	N	0.001754	T	0.20577	0.0495	L	0.53249	1.67	0.28038	N	0.933883	B;B	0.29571	0.166;0.249	B;B	0.31495	0.063;0.131	T	0.12837	-1.0532	10	0.72032	D	0.01	-36.6143	14.5605	0.68133	0.1469:0.8531:0.0:0.0	.	454;486	F5H5E2;Q8NHP8	.;PLBL2_HUMAN	Y	454;486	ENSP00000443463:H454Y;ENSP00000280800:H486Y	ENSP00000280800:H486Y	H	+	1	0	PLBD2	112309948	0.977000	0.34250	0.996000	0.52242	0.981000	0.71138	1.463000	0.35277	2.533000	0.85409	0.555000	0.69702	CAT		0.592	PLBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404835.1	NM_173542		T	113825565	C	T	113825565	3	4	820	1	0	0	0	0	1	0	0	0	12028	594	21	2	1498	2	PLBD2	12	113825565	Missense_Mutation	SNP	C	TCGA-Y8-A898-01A-11D-A34Z-10	58065799	113825565	20026330	51	49335											
SLC7A8	23428	hgsc.bcm.edu	37	14	23634614	23634615	+	Missense_Mutation	DNP	TC	TC	AT	rs371235147		TCGA-Y8-A898-01A-11D-A34Z-10	TCGA-Y8-A898-10A-01D-A34Z-10	T|C	T|C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c71a07f-83ad-4612-a896-217d2fde9904	b87bb919-a7fb-44d5-a76a-872cb44c2dc0	g.chr14:23634614_23634615TC>AT	ENST00000316902.7	-	3	1112_1113	c.387_388GA>AT	c.(385-390)gtGAtc>gtATtc	p.I130F	SLC7A8_ENST00000469263.1_Missense_Mutation_p.I130F	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8	130					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|metal ion homeostasis (GO:0055065)|neutral amino acid transport (GO:0015804)|organic cation transport (GO:0015695)|response to toxic substance (GO:0009636)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|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)|organic cation transmembrane transporter activity (GO:0015101)|peptide antigen binding (GO:0042605)|toxin transporter activity (GO:0019534)			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	GTGGGGTAGATCACCAGCACAG	0.629																																																0																																										SO:0001583	missense	23428			Y18483	CCDS9590.1, CCDS41924.1, CCDS58304.1, CCDS58305.1	14q11.2	2013-05-22	2011-07-12		ENSG00000092068	ENSG00000092068		"Solute carriers"	11066	protein-coding gene	gene with protein product		604235				10080183, 10391915	Standard	NM_001267036		Approved	LPI-PC1, LAT2	uc001wiz.4	Q9UHI5	OTTHUMG00000028720	ENST00000316902.7:c.387_388delinsAT	chr14.hg19:g.23634614_23634615delinsAT	ENSP00000320378:p.Ile130Phe		B2R8Q4|B4DKT4|B4DTV6|D3DS46|F2Z2J4|Q86U05|Q9UKQ6|Q9UKQ7|Q9UKQ8|Q9Y445	Missense_Mutation|Silent	SNP	ENST00000316902.7	hg19	CCDS9590.1																																																																																				0.629	SLC7A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071718.3			AT	23634615	TC	AT	23634614	3	1	820	1	0	0	0	0	1	0	0	0	14710	1435	50	5	1255	5	SLC7A8	14	23634614	Missense_Mutation	DNP	TC	TCGA-Y8-A898-01A-11D-A34Z-10		23634614	83714926	52	49336											
KIAA0391	9692	hgsc.bcm.edu	37	14	35735939	35735939	+	Missense_Mutation	SNP	A	A	G			TCGA-Y8-A898-01A-11D-A34Z-10	TCGA-Y8-A898-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c71a07f-83ad-4612-a896-217d2fde9904	b87bb919-a7fb-44d5-a76a-872cb44c2dc0	g.chr14:35735939A>G	ENST00000557565.1	+	6	1663	c.1282A>G	c.(1282-1284)Aat>Gat	p.N428D	KIAA0391_ENST00000604948.1_Missense_Mutation_p.N333D|KIAA0391_ENST00000534898.4_Missense_Mutation_p.N428D|KIAA0391_ENST00000605870.1_Missense_Mutation_p.N56D|KIAA0391_ENST00000603544.1_Missense_Mutation_p.N412D|KIAA0391_ENST00000321130.10_Missense_Mutation_p.N412D|KIAA0391_ENST00000250377.7_Missense_Mutation_p.N333D	NM_001282234.1	NP_001269163.1	O15091	MRRP3_HUMAN	KIAA0391	428					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		TTAGCTCTTGAATGTCGTCTC	0.488																																																0													179	173	175					14																	35735939		2203	4300	6503	SO:0001583	missense	9692			AB002389	CCDS32063.1, CCDS58312.1, CCDS58313.1, CCDS58314.1	14q13.2	2013-06-18			ENSG00000100890	ENSG00000100890			19958	protein-coding gene	gene with protein product	"mitochondrial RNase P subunit 3", "proteinaceous RNase P"	609947				9205841, 18984158	Standard	NM_001256678		Approved	MRPP3, PRORP	uc001wsy.2	O15091		ENST00000557565.1:c.1282A>G	chr14.hg19:g.35735939A>G	ENSP00000454657:p.Asn428Asp		B4DXD9|B4E0S8|B4E211|C4AM93|D3DS99|D3DSA1|Q86SZ4|Q86YB5|Q8N5L5	Missense_Mutation	SNP	ENST00000557565.1	hg19	CCDS32063.1	.	.	.	.	.	.	.	.	.	.	A	2.018	-0.425485	0.04701	.	.	ENSG00000100890	ENST00000554896;ENST00000250377;ENST00000321130;ENST00000534898;ENST00000556121;ENST00000556912;ENST00000557404	T;T;T;T	0.46063	0.88;0.9;0.9;0.99	5.62	-4.39	0.03611	.	1.007910	0.07948	N	0.980404	T	0.20088	0.0483	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.36648	-0.9739	10	0.11485	T	0.65	1.9621	12.9831	0.58575	0.6052:0.0:0.3948:0.0	.	412;428	O15091-2;O15091	.;MRRP3_HUMAN	D	333;333;412;428;412;56;56	ENSP00000250377:N333D;ENSP00000324697:N412D;ENSP00000440915:N428D;ENSP00000450898:N56D	ENSP00000250377:N333D	N	+	1	0	KIAA0391	34805690	0.521000	0.26258	0.002000	0.10522	0.342000	0.28953	0.425000	0.21346	-1.023000	0.03342	-0.248000	0.11899	AAT		0.488	KIAA0391-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000411280.1	NM_014672		G	35735939	A	G	35735939	3	3	820	1	0	0	0	0	1	0	0	0	8174	246	9	3	1300	3	KIAA0391	14	35735939	Missense_Mutation	SNP	A	TCGA-Y8-A898-01A-11D-A34Z-10	12101325	35735939	71613601	53	49337											
ARID4A	5926	hgsc.bcm.edu	37	14	58832872	58832872	+	Missense_Mutation	SNP	A	A	T			TCGA-Y8-A898-01A-11D-A34Z-10	TCGA-Y8-A898-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c71a07f-83ad-4612-a896-217d2fde9904	b87bb919-a7fb-44d5-a76a-872cb44c2dc0	g.chr14:58832872A>T	ENST00000355431.3	+	22	3820	c.3447A>T	c.(3445-3447)aaA>aaT	p.K1149N	ARID4A_ENST00000348476.3_Intron|ARID4A_ENST00000395168.3_Intron|ARID4A_ENST00000431317.2_Intron	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	1149					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						CGCACATCAAAGATGGAGAGA	0.388																																																0													154	163	160					14																	58832872		2203	4300	6503	SO:0001583	missense	5926			S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"-"	9885	protein-coding gene	gene with protein product		180201	"retinoblastoma-binding protein 1"	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.3447A>T	chr14.hg19:g.58832872A>T	ENSP00000347602:p.Lys1149Asn		Q15991|Q15992|Q15993	Missense_Mutation	SNP	ENST00000355431.3	hg19	CCDS9732.1	.	.	.	.	.	.	.	.	.	.	A	19.90	3.913602	0.72983	.	.	ENSG00000032219	ENST00000355431	T	0.20200	2.09	5.12	3.97	0.46021	.	0.000000	0.85682	D	0.000000	T	0.41328	0.1154	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.23762	-1.0179	10	0.87932	D	0	-27.7345	9.6558	0.39925	0.8524:0.0:0.1476:0.0	.	1149	P29374	ARI4A_HUMAN	N	1149	ENSP00000347602:K1149N	ENSP00000347602:K1149N	K	+	3	2	ARID4A	57902625	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.682000	0.46934	0.890000	0.36211	0.528000	0.53228	AAA		0.388	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2	NM_023001		T	58832872	A	T	58832872	3	4	820	1	0	0	0	0	1	0	0	0	919	69	3	5	3529	5	ARID4A	14	58832872	Missense_Mutation	SNP	A	TCGA-Y8-A898-01A-11D-A34Z-10	23096933	58832872	48516668	54	49338											
GTF2A1	2957	hgsc.bcm.edu	37	14	81662499	81662499	+	Missense_Mutation	SNP	T	T	C	rs535983219		TCGA-Y8-A898-01A-11D-A34Z-10	TCGA-Y8-A898-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c71a07f-83ad-4612-a896-217d2fde9904	b87bb919-a7fb-44d5-a76a-872cb44c2dc0	g.chr14:81662499T>C	ENST00000553612.1	-	6	968	c.565A>G	c.(565-567)Ata>Gta	p.I189V	GTF2A1_ENST00000434192.2_Missense_Mutation_p.I150V	NM_001278940.1|NM_015859.3	NP_001265869.1|NP_056943.1	P52655	TF2AA_HUMAN	general transcription factor IIA, 1, 19/37kDa	189					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(234;0.0287)		ATTTGTGGTATAACCTGTTGT	0.428																																																0													182	163	169					14																	81662499		2203	4300	6503	SO:0001583	missense	2957			X75383	CCDS9873.1, CCDS9874.1	14q31	2010-03-23	2002-08-29					"General transcription factors"	4646	protein-coding gene	gene with protein product		600520	"glucose regulated protein, 58kD pseudogene"			8224848	Standard	NM_015859		Approved	TFIIA	uc001xvf.2	P52655		ENST00000553612.1:c.565A>G	chr14.hg19:g.81662499T>C	ENSP00000452454:p.Ile189Val		Q3KNQ9	Missense_Mutation	SNP	ENST00000553612.1	hg19	CCDS9873.1	.	.	.	.	.	.	.	.	.	.	T	10.86	1.470284	0.26423	.	.	ENSG00000165417	ENST00000553612;ENST00000344860;ENST00000434192	T;T	0.40756	1.02;1.02	5.38	5.38	0.77491	.	0.181773	0.47455	D	0.000232	T	0.37919	0.1021	L	0.46614	1.455	0.35724	D	0.817382	B	0.26445	0.149	B	0.29663	0.105	T	0.42378	-0.9455	10	0.16420	T	0.52	-13.0773	15.3865	0.74706	0.0:0.0:0.0:1.0	.	189	P52655	TF2AA_HUMAN	V	189;150;150	ENSP00000452454:I189V;ENSP00000409492:I150V	ENSP00000298173:I189V	I	-	1	0	GTF2A1	80732252	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.640000	0.61368	2.025000	0.59659	0.459000	0.35465	ATA		0.428	GTF2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413309.1	NM_015859		C	81662499	T	C	81662499	3	2	820	1	0	0	0	0	1	0	0	0	6854	1406	49	3	581	3	GTF2A1	14	81662499	Missense_Mutation	SNP	T	TCGA-Y8-A898-01A-11D-A34Z-10	22829627	81662499	25687041	55	49339											
C14orf49	161176	hgsc.bcm.edu	37	14	95903278	95903278	+	Missense_Mutation	SNP	A	A	T			TCGA-Y8-A898-01A-11D-A34Z-10	TCGA-Y8-A898-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c71a07f-83ad-4612-a896-217d2fde9904	b87bb919-a7fb-44d5-a76a-872cb44c2dc0	g.chr14:95903278A>T	ENST00000334258.5	-	14	2431	c.2417T>A	c.(2416-2418)tTc>tAc	p.F806Y	SYNE3_ENST00000554873.1_Missense_Mutation_p.F563Y|SYNE3_ENST00000557275.1_Missense_Mutation_p.F801Y	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	806					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						GAGCTGGGAGAAATCTTCATG	0.517																																																0													100	96	97					14																	95903278		2203	4300	6503	SO:0001583	missense	161176			AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"chromosome 14 open reading frame 49"	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.2417T>A	chr14.hg19:g.95903278A>T	ENSP00000334308:p.Phe806Tyr		A6H8H3|Q86SX5|Q8N7G8	Missense_Mutation	SNP	ENST00000334258.5	hg19	CCDS9935.1	.	.	.	.	.	.	.	.	.	.	A	8.638	0.895334	0.17613	.	.	ENSG00000176438	ENST00000334258;ENST00000554873;ENST00000557275	T;T;T	0.12672	3.49;2.66;3.5	5.13	-6.79	0.01715	.	1.951040	0.02897	N	0.134895	T	0.07052	0.0179	L	0.40543	1.245	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.001	T	0.40683	-0.9550	10	0.02654	T	1	-0.2886	0.1537	0.00096	0.2263:0.2228:0.217:0.3339	.	801;806	Q6ZMZ3-2;Q6ZMZ3	.;SYNE3_HUMAN	Y	806;563;801	ENSP00000334308:F806Y;ENSP00000452154:F563Y;ENSP00000450562:F801Y	ENSP00000334308:F806Y	F	-	2	0	C14orf49	94973031	0.011000	0.17503	0.000000	0.03702	0.134000	0.20937	0.178000	0.16820	-1.516000	0.01782	0.459000	0.35465	TTC		0.517	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592		T	95903278	A	T	95903278	3	4	820	1	0	0	0	0	1	0	0	0	1778	246	9	5	526	5	C14orf49	14	95903278	Missense_Mutation	SNP	A	TCGA-Y8-A898-01A-11D-A34Z-10	14240779	95903278	11446262	56	49340											
HERC2	8924	hgsc.bcm.edu	37	15	28437274	28437274	+	Missense_Mutation	SNP	G	G	C	rs543946257		TCGA-Y8-A898-01A-11D-A34Z-10	TCGA-Y8-A898-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c71a07f-83ad-4612-a896-217d2fde9904	b87bb919-a7fb-44d5-a76a-872cb44c2dc0	g.chr15:28437274G>C	ENST00000261609.7	-	53	8392	c.8284C>G	c.(8284-8286)Cgt>Ggt	p.R2762G		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.R2762G(3)		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)		TTTCCAGAACGGCCACAAAAT	0.493											OREG0022997	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	,	,		17962	0.0		0.0	False		,,,				2504	0.0															3	Substitution - Missense(3)	ovary(1)|NS(1)|central_nervous_system(1)											97	96	96					15																	28437274		2203	4300	6503	SO:0001583	missense	8924			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.8284C>G	chr15.hg19:g.28437274G>C	ENSP00000261609:p.Arg2762Gly	801		Missense_Mutation	SNP	ENST00000261609.7	hg19	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.874685	0.72180	.	.	ENSG00000128731	ENST00000261609	T	0.62788	0.0	5.67	5.67	0.87782	Anaphase-promoting complex, subunit 10/DOC domain (1);Galactose-binding domain-like (1);	0.054132	0.85682	D	0.000000	T	0.77157	0.4089	L	0.53249	1.67	0.80722	D	1	D;D	0.69078	0.997;0.987	D;D	0.76071	0.987;0.953	T	0.77861	-0.2430	10	0.72032	D	0.01	.	19.7646	0.96335	0.0:0.0:1.0:0.0	.	229;2762	A8KAQ8;O95714	.;HERC2_HUMAN	G	2762	ENSP00000261609:R2762G	ENSP00000261609:R2762G	R	-	1	0	HERC2	26110869	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.808000	0.99193	2.675000	0.91044	0.471000	0.43371	CGT		0.493	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		C	28437274	G	C	28437274	3	2	820	1	0	0	0	0	1	0	0	0	7060	1116	39	4	6384	4	HERC2	15	28437274	Missense_Mutation	SNP	G	TCGA-Y8-A898-01A-11D-A34Z-10		28437274	74094118	57	49341											
CCPG1	9236	hgsc.bcm.edu	37	15	55652607	55652607	+	Missense_Mutation	SNP	G	G	C			TCGA-Y8-A898-01A-11D-A34Z-10	TCGA-Y8-A898-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c71a07f-83ad-4612-a896-217d2fde9904	b87bb919-a7fb-44d5-a76a-872cb44c2dc0	g.chr15:55652607G>C	ENST00000310958.6	-	8	1662	c.1364C>G	c.(1363-1365)gCa>gGa	p.A455G	CCPG1_ENST00000569205.1_Missense_Mutation_p.A455G|CCPG1_ENST00000442196.3_Missense_Mutation_p.A455G|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000425574.3_Intron	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	455					cell cycle (GO:0007049)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001106)	integral component of membrane (GO:0016021)				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		TTGATCTTTTGCCTCAACATA	0.418																																																0													257	236	243					15																	55652607		1848	4104	5952	SO:0001583	missense	9236			AF212228	CCDS42039.1, CCDS55966.1, CCDS55967.1	15q21.1	2011-04-20				ENSG00000260916			24227	protein-coding gene	gene with protein product		611326				9383053, 10574462	Standard	NM_004748		Approved	KIAA1254, CPR8	uc010bfk.2	Q9ULG6		ENST00000310958.6:c.1364C>G	chr15.hg19:g.55652607G>C	ENSP00000311656:p.Ala455Gly		A0PJH3|A8K9T0|O14712|Q05DG4|Q5U5S7|Q8IYV8|Q9BY53|Q9HA17	Missense_Mutation	SNP	ENST00000310958.6	hg19	CCDS42039.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.382990	0.82792	.	.	ENSG00000256061	ENST00000310958;ENST00000442196	T;T	0.37058	1.22;1.22	5.93	5.93	0.95920	.	0.207171	0.50627	D	0.000102	T	0.59514	0.2199	M	0.63843	1.955	0.58432	D	0.999998	D;D;D;D	0.76494	0.998;0.999;0.998;0.999	D;D;D;D	0.70935	0.947;0.947;0.947;0.971	T	0.56823	-0.7915	10	0.56958	D	0.05	.	19.3421	0.94347	0.0:0.0:1.0:0.0	.	455;455;455;311	A8K9T0;Q9ULG6-4;Q9ULG6;Q9ULG6-2	.;.;CCPG1_HUMAN;.	G	455	ENSP00000311656:A455G;ENSP00000403400:A455G	ENSP00000311656:A455G	A	-	2	0	DYX1C1	53439899	1.000000	0.71417	0.999000	0.59377	0.959000	0.62525	3.604000	0.54081	2.826000	0.97356	0.655000	0.94253	GCA		0.418	CCPG1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419850.1	NM_004748		C	55652607	G	C	55652607	3	2	820	1	0	0	0	0	1	0	0	0	2940	1319	46	4	913	4	CCPG1	15	55652607	Missense_Mutation	SNP	G	TCGA-Y8-A898-01A-11D-A34Z-10	27215333	55652607	46878785	58	49342											
SPESP1	246777	hgsc.bcm.edu	37	15	69238832	69238832	+	Missense_Mutation	SNP	C	C	T			TCGA-Y8-A898-01A-11D-A34Z-10	TCGA-Y8-A898-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c71a07f-83ad-4612-a896-217d2fde9904	b87bb919-a7fb-44d5-a76a-872cb44c2dc0	g.chr15:69238832C>T	ENST00000310673.3	+	2	1113	c.959C>T	c.(958-960)cCa>cTa	p.P320L	RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000448182.3_Intron|NOX5_ENST00000455873.3_Intron|NOX5_ENST00000260364.5_Intron	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	320					acrosome reaction (GO:0007340)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organismal development (GO:0007275)	acrosomal vesicle (GO:0001669)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						AAATGTGTTCCACCAGAGATG	0.294																																																0													51	58	56					15																	69238832		2172	4265	6437	SO:0001583	missense	246777			AF275321	CCDS10230.1	15q22.31	2011-04-15				ENSG00000258484			15570	protein-coding gene	gene with protein product		609399				12773409	Standard	NM_145658		Approved	SP-ESP	uc002arn.2	Q6UW49		ENST00000310673.3:c.959C>T	chr15.hg19:g.69238832C>T	ENSP00000312284:p.Pro320Leu		Q8NG22|Q8WVH8	Missense_Mutation	SNP	ENST00000310673.3	hg19	CCDS10230.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.346513	0.61073	.	.	ENSG00000258484	ENST00000310673	T	0.24908	1.83	5.33	5.33	0.75918	.	0.000000	0.47455	D	0.000236	T	0.41719	0.1171	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.22487	-1.0215	10	0.87932	D	0	-14.4125	14.8728	0.70471	0.0:1.0:0.0:0.0	.	320	Q6UW49	SPESP_HUMAN	L	320	ENSP00000312284:P320L	ENSP00000312284:P320L	P	+	2	0	SPESP1	67025886	0.918000	0.31147	0.972000	0.41901	0.486000	0.33341	3.109000	0.50345	2.651000	0.90000	0.655000	0.94253	CCA		0.294	SPESP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257125.1	NM_145658		T	69238832	C	T	69238832	3	4	820	1	0	0	0	0	1	0	0	0	15045	594	21	2	965	2	SPESP1	15	69238832	Missense_Mutation	SNP	C	TCGA-Y8-A898-01A-11D-A34Z-10	13586225	69238832	33292560	59	49343											
CHSY1	22856	hgsc.bcm.edu	37	15	101718483	101718483	+	Missense_Mutation	SNP	G	G	A			TCGA-Y8-A898-01A-11D-A34Z-10	TCGA-Y8-A898-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c71a07f-83ad-4612-a896-217d2fde9904	b87bb919-a7fb-44d5-a76a-872cb44c2dc0	g.chr15:101718483G>A	ENST00000254190.3	-	3	1994	c.1519C>T	c.(1519-1521)Ctc>Ttc	p.L507F	CHSY1_ENST00000543813.1_5'UTR	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	507					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)			GAGTTTGAGAGAAAGGACAAG	0.453																																																0													84	89	87					15																	101718483		2203	4300	6503	SO:0001583	missense	22856			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.1519C>T	chr15.hg19:g.101718483G>A	ENSP00000254190:p.Leu507Phe		Q6UX38|Q7LFU5|Q9Y2J5	Missense_Mutation	SNP	ENST00000254190.3	hg19	CCDS10390.1	.	.	.	.	.	.	.	.	.	.	G	9.498	1.102392	0.20632	.	.	ENSG00000131873	ENST00000254190;ENST00000543813	T	0.37411	1.2	5.69	5.69	0.88448	.	0.073492	0.53938	N	0.000046	T	0.26846	0.0657	N	0.25890	0.77	0.80722	D	1	B	0.18741	0.03	B	0.24006	0.05	T	0.06516	-1.0822	10	0.21540	T	0.41	-56.0537	13.0568	0.58984	0.0732:0.0:0.9268:0.0	.	507	Q86X52	CHSS1_HUMAN	F	507;235	ENSP00000254190:L507F	ENSP00000254190:L507F	L	-	1	0	CHSY1	99536006	1.000000	0.71417	0.966000	0.40874	0.457000	0.32468	4.748000	0.62148	2.676000	0.91093	0.655000	0.94253	CTC		0.453	CHSY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313624.1	NM_014918		A	101718483	G	A	101718483	3	1	820	1	0	0	0	0	1	0	0	0	3414	942	33	2	893	2	CHSY1	15	101718483	Missense_Mutation	SNP	G	TCGA-Y8-A898-01A-11D-A34Z-10	32479651	101718483	812909	60	49344											
C16orf13	84326	hgsc.bcm.edu	37	16	684782	684782	+	Frame_Shift_Del	DEL	C	C	-			TCGA-Y8-A898-01A-11D-A34Z-10	TCGA-Y8-A898-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c71a07f-83ad-4612-a896-217d2fde9904	b87bb919-a7fb-44d5-a76a-872cb44c2dc0	g.chr16:684782delC	ENST00000301686.8	-	5	515	c.504delG	c.(502-504)gggfs	p.G168fs	C16orf13_ENST00000397666.2_Frame_Shift_Del_p.A146fs|C16orf13_ENST00000338401.4_Frame_Shift_Del_p.G71fs|C16orf13_ENST00000397664.4_Frame_Shift_Del_p.G91fs|C16orf13_ENST00000397665.2_Frame_Shift_Del_p.A126fs	NM_032366.3	NP_115742.3	Q96S19	CP013_HUMAN	chromosome 16 open reading frame 13	168										large_intestine(1)	1		Hepatocellular(780;0.00335)				TGTCCCGAAGCCCCCATTCTG	0.677																																																0													32	35	34					16																	684782		2192	4295	6487	SO:0001589	frameshift_variant	84326				CCDS32352.1, CCDS42090.1, CCDS42091.1, CCDS45367.1, CCDS45368.1, CCDS73798.1	16p13.3	2012-10-09			ENSG00000130731	ENSG00000130731			14141	protein-coding gene	gene with protein product							Standard	NM_001040160		Approved	MGC13114	uc002chw.1	Q96S19	OTTHUMG00000047855	ENST00000301686.8:c.504delG	chr16.hg19:g.684782delC	ENSP00000445926:p.Gly168fs		A8MTR1|A8MWJ8|A8MZA1|B4DG95|B4DIJ3|D6REA6|F6TF62|F6VM53|Q96IW1|Q96MD6	Frame_Shift_Del	DEL	ENST00000301686.8	hg19	CCDS45368.1																																																																																				0.677	C16orf13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109081.2	NM_001040160		-	684782	C	-	684782	7	5	820	1	0	1	0	1	0	0	0	0	1813	739	26	0	189	0	C16orf13	16	684782	Frame_Shift_Del	DEL	C	TCGA-Y8-A898-01A-11D-A34Z-10		684782	89669971	61	49345											
SRRM2	23524	hgsc.bcm.edu	37	16	2819139	2819139	+	Silent	SNP	C	C	T			TCGA-Y8-A898-01A-11D-A34Z-10	TCGA-Y8-A898-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c71a07f-83ad-4612-a896-217d2fde9904	b87bb919-a7fb-44d5-a76a-872cb44c2dc0	g.chr16:2819139C>T	ENST00000301740.8	+	12	8424	c.7875C>T	c.(7873-7875)tcC>tcT	p.S2625S	AC092117.2_ENST00000581119.1_RNA|SRRM2_ENST00000574593.1_3'UTR	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2625	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						cctcctcctcctcttcttcct	0.592																																																0													141	121	128					16																	2819139		2198	4300	6498	SO:0001819	synonymous_variant	23524			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.7875C>T	chr16.hg19:g.2819139C>T			A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Silent	SNP	ENST00000301740.8	hg19	CCDS32373.1																																																																																				0.592	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			T	2819139	C	T	2819139	2	4	820	1	0	0	0	0	0	0	0	1	15174	668	24	2		2	SRRM2	16	2819139	Silent	SNP	C	TCGA-Y8-A898-01A-11D-A34Z-10	2134357	2819139	87535614	62	49346											
NLRC3	197358	hgsc.bcm.edu	37	16	3599167	3599167	+	RNA	SNP	C	C	T			TCGA-Y8-A898-01A-11D-A34Z-10	TCGA-Y8-A898-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c71a07f-83ad-4612-a896-217d2fde9904	b87bb919-a7fb-44d5-a76a-872cb44c2dc0	g.chr16:3599167C>T	ENST00000301749.7	-	0	2983				NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_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						GTGCTGTTGGCGCAGAGGGCA	0.597																																																0													36	39	38					16																	3599167		2092	4208	6300			197358			BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"Nucleotide-binding domain and leucine rich repeat containing"	29889	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3", "NOD-like receptor C3"	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		chr16.hg19:g.3599167C>T			Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	Missense_Mutation	SNP	ENST00000301749.7	hg19		.	.	.	.	.	.	.	.	.	.	C	0.013	-1.640859	0.00799	.	.	ENSG00000167984	ENST00000301749;ENST00000359128;ENST00000448023	T;T;T	0.52754	0.65;0.65;0.65	4.95	0.257	0.15574	.	0.860278	0.10393	N	0.680227	T	0.22975	0.0555	N	0.11364	0.135	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.04013	0.001;0.0	T	0.26395	-1.0104	10	0.10111	T	0.7	.	7.158	0.25649	0.0:0.3789:0.0:0.6211	.	860;906	Q7RTR2;C9JLH9	NLRC3_HUMAN;.	T	860;859;906	ENSP00000301749:A860T;ENSP00000352039:A859T;ENSP00000414415:A906T	ENSP00000301749:A860T	A	-	1	0	NLRC3	3539168	0.000000	0.05858	0.021000	0.16686	0.019000	0.09904	-0.096000	0.11059	-0.005000	0.14395	-1.287000	0.01368	GCC		0.597	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene		NM_178844		T	3599167	C	T	3599167	1	4	820	0	1	0	0	0	0	0	0	0	10470	768	27	1		1	NLRC3	16	3599167	RNA	SNP	C	TCGA-Y8-A898-01A-11D-A34Z-10	780028	3599167	86755586	63	49347											
NUDT16L1	84309	hgsc.bcm.edu	37	16	4744082	4744082	+	Missense_Mutation	SNP	T	T	A			TCGA-Y8-A898-01A-11D-A34Z-10	TCGA-Y8-A898-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c71a07f-83ad-4612-a896-217d2fde9904	b87bb919-a7fb-44d5-a76a-872cb44c2dc0	g.chr16:4744082T>A	ENST00000304301.6	+	2	290	c.257T>A	c.(256-258)cTg>cAg	p.L86Q	NUDT16L1_ENST00000586252.1_Missense_Mutation_p.L86Q|NUDT16L1_ENST00000405142.1_Missense_Mutation_p.L86Q|NUDT16L1_ENST00000586536.1_Missense_Mutation_p.L86Q	NM_032349.3	NP_115725.1	Q9BRJ7	SDOS_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 16-like 1	86						cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4						GGCCTGGGCCTGGGCTGCCTG	0.721																																																0													17	21	19					16																	4744082		2185	4292	6477	SO:0001583	missense	84309			BC006223	CCDS10519.1, CCDS59257.1	16p13.3	2008-02-05			ENSG00000168101	ENSG00000168101		"Nudix motif containing"	28154	protein-coding gene	gene with protein product						11805099	Standard	NM_032349		Approved	SDOS	uc002cxe.3	Q9BRJ7	OTTHUMG00000129471	ENST00000304301.6:c.257T>A	chr16.hg19:g.4744082T>A	ENSP00000306670:p.Leu86Gln		Q8NAI2	Missense_Mutation	SNP	ENST00000304301.6	hg19	CCDS10519.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.362056	0.82353	.	.	ENSG00000168101	ENST00000304301;ENST00000405142	.	.	.	4.28	4.28	0.50868	NUDIX hydrolase domain-like (1);	0.305277	0.26499	N	0.024037	T	0.75064	0.3799	M	0.61703	1.905	0.45883	D	0.998732	D;D	0.89917	1.0;0.96	D;P	0.83275	0.996;0.463	T	0.77720	-0.2482	9	0.87932	D	0	.	12.2661	0.54679	0.0:0.0:0.0:1.0	.	86;86	Q9BRJ7-2;Q9BRJ7	.;SDOS_HUMAN	Q	86	.	ENSP00000306670:L86Q	L	+	2	0	NUDT16L1	4684083	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	2.439000	0.44846	1.583000	0.49898	0.528000	0.53228	CTG		0.721	NUDT16L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251634.1	NM_032349		A	4744082	T	A	4744082	3	1	820	1	0	0	0	0	1	0	0	0	10735	1580	55	5	263	5	NUDT16L1	16	4744082	Missense_Mutation	SNP	T	TCGA-Y8-A898-01A-11D-A34Z-10	1144915	4744082	85610671	64	49348											
CLEC18A	348174	hgsc.bcm.edu	37	16	69988435	69988436	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-Y8-A898-01A-11D-A34Z-10	TCGA-Y8-A898-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c71a07f-83ad-4612-a896-217d2fde9904	b87bb919-a7fb-44d5-a76a-872cb44c2dc0	g.chr16:69988435_69988436GG>AA	ENST00000288040.6	+	3	602_603	c.415_416GG>AA	c.(415-417)GGa>AAa	p.G139K	CLEC18A_ENST00000393701.2_Missense_Mutation_p.G139K|CLEC18A_ENST00000568461.1_Missense_Mutation_p.G139K|CLEC18A_ENST00000449317.2_Missense_Mutation_p.G139K	NM_001136214.2	NP_001129686.1	A5D8T8	CL18A_HUMAN	C-type lectin domain family 18, member A	139	SCP.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(2)|lung(1)|skin(1)	5						CCACGCGGCAGGAGAGTGTGCT	0.624																																																0																																										SO:0001583	missense	348174			AF428259	CCDS10886.1	16q22.1	2010-04-27	2009-03-10	2009-03-10		ENSG00000157322		"C-type lectin domain containing"	30388	protein-coding gene	gene with protein product	"mannose receptor-like"					12975309	Standard	NM_001136214		Approved	MRCL	uc010vlo.3	A5D8T8		Exception_encountered	chr16.hg19:g.69988435_69988436delinsAA	ENSP00000288040:p.Gly139Lys		A8K1G9|Q6DCB3|Q7Z5K9|Q96HH2	Missense_Mutation	SNP	ENST00000288040.6	hg19	CCDS10886.1																																																																																				0.624	CLEC18A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268955.2	NM_182619		AA	69988436	GG	AA	69988435	3	1	820	1	0	0	0	0	1	0	0	0	3504	1001	35	2	425	2	CLEC18A	16	69988435	Missense_Mutation	DNP	GG	TCGA-Y8-A898-01A-11D-A34Z-10	65244353	69988435	20366318	65	49349											
HYDIN	54768	hgsc.bcm.edu	37	16	70977738	70977738	+	Missense_Mutation	SNP	G	G	T			TCGA-Y8-A898-01A-11D-A34Z-10	TCGA-Y8-A898-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c71a07f-83ad-4612-a896-217d2fde9904	b87bb919-a7fb-44d5-a76a-872cb44c2dc0	g.chr16:70977738G>T	ENST00000393567.2	-	42	6796	c.6646C>A	c.(6646-6648)Cag>Aag	p.Q2216K		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2216					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)				GCCAGGATCTGCACGAGAAGT	0.632																																																0													32	33	32					16																	70977738		2048	4193	6241	SO:0001583	missense	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.6646C>A	chr16.hg19:g.70977738G>T	ENSP00000377197:p.Gln2216Lys		A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	hg19	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	G	12.01	1.809392	0.31961	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.20598	2.06	4.95	3.92	0.45320	.	0.789986	0.09983	U	0.730756	T	0.21509	0.0518	L	0.51422	1.61	0.80722	D	1	P	0.37500	0.597	B	0.34722	0.188	T	0.06427	-1.0827	10	0.39692	T	0.17	.	12.555	0.56248	0.0:0.352:0.648:0.0	.	2215	F8WD23	.	K	2216;2215	ENSP00000377197:Q2216K	ENSP00000313052:Q2215K	Q	-	1	0	HYDIN	69535239	0.999000	0.42202	0.944000	0.38274	0.128000	0.20619	3.698000	0.54771	2.442000	0.82660	0.609000	0.83330	CAG		0.632	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			T	70977738	G	T	70977738	3	4	820	1	0	0	0	0	1	0	0	0	7469	1328	46	4	8899	4	HYDIN	16	70977738	Missense_Mutation	SNP	G	TCGA-Y8-A898-01A-11D-A34Z-10	989303	70977738	19377015	66	49350											
CHMP1A	5119	hgsc.bcm.edu	37	16	89715757	89715757	+	Splice_Site	SNP	A	A	G			TCGA-Y8-A898-01A-11D-A34Z-10	TCGA-Y8-A898-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c71a07f-83ad-4612-a896-217d2fde9904	b87bb919-a7fb-44d5-a76a-872cb44c2dc0	g.chr16:89715757A>G	ENST00000397901.3	-	4	509		c.e4+1		CHMP1A_ENST00000550102.1_Intron|CHMP1A_ENST00000547614.1_Splice_Site|CHMP1A_ENST00000535997.2_Splice_Site|CHMP1A_ENST00000253475.5_Splice_Site	NM_002768.3	NP_002759.2	Q9HD42	CHM1A_HUMAN	charged multivesicular body protein 1A						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)		CCCAGCACTCACCCCCTTCAT	0.617																																																0													102	119	113					16																	89715757		2180	4282	6462	SO:0001630	splice_region_variant	5119			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.252+1T>C	chr16.hg19:g.89715757A>G			A2RU09|Q14468|Q15779|Q96G31	Splice_Site	SNP	ENST00000397901.3	hg19	CCDS45552.1	.	.	.	.	.	.	.	.	.	.	.	18.86	3.712432	0.68730	.	.	ENSG00000131165	ENST00000397901;ENST00000253475;ENST00000535997	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7909	0.78364	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CHMP1A	88243258	1.000000	0.71417	1.000000	0.80357	0.740000	0.42216	8.591000	0.90824	2.128000	0.65567	0.459000	0.35465	.		0.617	CHMP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404581.1	NM_002768	Intron	G	89715757	A	G	89715757	5	3	820	1	0	0	0	0	0	0	1	0	3354	173	6	3	504	3	CHMP1A	16	89715757	Splice_Site	SNP	A	TCGA-Y8-A898-01A-11D-A34Z-10	18738019	89715757	638996	67	49351											
WDR81	124997	hgsc.bcm.edu	37	17	1629728	1629728	+	Frame_Shift_Del	DEL	T	T	-			TCGA-Y8-A898-01A-11D-A34Z-10	TCGA-Y8-A898-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c71a07f-83ad-4612-a896-217d2fde9904	b87bb919-a7fb-44d5-a76a-872cb44c2dc0	g.chr17:1629728delT	ENST00000409644.1	+	1	1475	c.1475delT	c.(1474-1476)attfs	p.I492fs	WDR81_ENST00000446363.1_Intron|WDR81_ENST00000309182.5_Intron|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000437219.2_Intron|WDR81_ENST00000419248.1_Intron	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	492	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.				negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GATGAGTGCATTCCGGAGTTC	0.632																																																0													25	27	26					17																	1629728		692	1585	2277	SO:0001589	frameshift_variant	124997			AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"WD repeat domain containing"	26600	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 166"	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.1475delT	chr17.hg19:g.1629728delT	ENSP00000386609:p.Ile492fs		B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Frame_Shift_Del	DEL	ENST00000409644.1	hg19	CCDS54062.1																																																																																				0.632	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333118.2	NM_152348		-	1629728	T	-	1629728	7	5	820	1	0	1	0	1	0	0	0	0	17335	1493	52	0	1539	0	WDR81	17	1629728	Frame_Shift_Del	DEL	T	TCGA-Y8-A898-01A-11D-A34Z-10		1629728	79565482	68	49352											
TMEM98	26022	hgsc.bcm.edu	37	17	31258638	31258638	+	Missense_Mutation	SNP	A	A	G			TCGA-Y8-A898-01A-11D-A34Z-10	TCGA-Y8-A898-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c71a07f-83ad-4612-a896-217d2fde9904	b87bb919-a7fb-44d5-a76a-872cb44c2dc0	g.chr17:31258638A>G	ENST00000579849.1	+	3	523	c.92A>G	c.(91-93)tAc>tGc	p.Y31C	TMEM98_ENST00000578289.1_Missense_Mutation_p.Y31C|TMEM98_ENST00000394642.3_Missense_Mutation_p.Y31C	NM_015544.2	NP_056359.2	Q9Y2Y6	TMM98_HUMAN	transmembrane protein 98	31						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(2)|large_intestine(1)	3		Ovarian(249;0.182)|Breast(31;0.244)	BRCA - Breast invasive adenocarcinoma(9;0.0769)			AGGCAGCGCTACTGCCGGCCG	0.552																																																0													96	74	82					17																	31258638		2203	4300	6503	SO:0001583	missense	26022			CR605381	CCDS11274.1	17q11.2	2005-12-16			ENSG00000006042	ENSG00000006042			24529	protein-coding gene	gene with protein product		615949				11230166	Standard	NM_001301746		Approved	DKFZP564K1964	uc002hhr.3	Q9Y2Y6	OTTHUMG00000132882	ENST00000579849.1:c.92A>G	chr17.hg19:g.31258638A>G	ENSP00000463245:p.Tyr31Cys		E1P631|Q9UFK2	Missense_Mutation	SNP	ENST00000579849.1	hg19	CCDS11274.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.199358	0.79015	.	.	ENSG00000006042	ENST00000394642;ENST00000261713;ENST00000395149;ENST00000439138	T;T;T;T	0.52057	0.68;0.8;0.78;0.7	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.54208	0.1844	L	0.32530	0.975	0.58432	D	0.999998	D	0.71674	0.998	P	0.62813	0.907	T	0.56366	-0.7991	10	0.59425	D	0.04	-5.672	12.5682	0.56322	1.0:0.0:0.0:0.0	.	31	Q9Y2Y6	TMM98_HUMAN	C	31	ENSP00000378138:Y31C;ENSP00000261713:Y31C;ENSP00000398446:Y31C;ENSP00000406394:Y31C	ENSP00000261713:Y31C	Y	+	2	0	TMEM98	28282751	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.376000	0.90138	1.289000	0.44618	0.655000	0.94253	TAC		0.552	TMEM98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256372.2	NM_015544		G	31258638	A	G	31258638	3	3	820	1	0	0	0	0	1	0	0	0	16230	391	14	3	94	3	TMEM98	17	31258638	Missense_Mutation	SNP	A	TCGA-Y8-A898-01A-11D-A34Z-10	29628910	31258638	49936572	69	49353											
TMEM49	81671	hgsc.bcm.edu	37	17	57917269	57917269	+	Silent	SNP	A	A	G			TCGA-Y8-A898-01A-11D-A34Z-10	TCGA-Y8-A898-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c71a07f-83ad-4612-a896-217d2fde9904	b87bb919-a7fb-44d5-a76a-872cb44c2dc0	g.chr17:57917269A>G	ENST00000262291.4	+	12	1528	c.1218A>G	c.(1216-1218)aaA>aaG	p.K406K	VMP1_ENST00000588617.1_3'UTR|VMP1_ENST00000537567.1_Silent_p.K272K|VMP1_ENST00000536180.1_Silent_p.K309K|VMP1_ENST00000539763.1_Silent_p.K214K|VMP1_ENST00000545362.1_Silent_p.K350K|MIR21_ENST00000362134.1_RNA	NM_030938.3	NP_112200.2	Q96GC9	VMP1_HUMAN	vacuole membrane protein 1	406					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						AGAAAACTAAATAAGTAGAGA	0.418																																																0													91	88	89					17																	57917269		2203	4300	6503	SO:0001819	synonymous_variant	81671				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.1218A>G	chr17.hg19:g.57917269A>G			B4DVV9|Q9H0P4|Q9P089	Silent	SNP	ENST00000262291.4	hg19	CCDS11619.1																																																																																				0.418	VMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448793.1	NM_030938		G	57917269	A	G	57917269	2	3	820	1	0	0	0	0	0	0	0	1	16178	98	4	3		3	TMEM49	17	57917269	Silent	SNP	A	TCGA-Y8-A898-01A-11D-A34Z-10	26658631	57917269	23277941	70	49354											
COLEC12	81035	hgsc.bcm.edu	37	18	321780	321780	+	Missense_Mutation	SNP	G	G	C			TCGA-Y8-A898-01A-11D-A34Z-10	TCGA-Y8-A898-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c71a07f-83ad-4612-a896-217d2fde9904	b87bb919-a7fb-44d5-a76a-872cb44c2dc0	g.chr18:321780G>C	ENST00000400256.3	-	9	2298	c.2091C>G	c.(2089-2091)aaC>aaG	p.N697K	RP11-720L2.4_ENST00000580756.1_lincRNA	NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	697	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				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)	p.N697K(1)		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)				CATGACCCCAGTTATCCGGCT	0.443																																																1	Substitution - Missense(1)	pancreas(1)											126	131	129					18																	321780		2203	4300	6503	SO:0001583	missense	81035			AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"Collectins"	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.2091C>G	chr18.hg19:g.321780G>C	ENSP00000383115:p.Asn697Lys		Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	ENST00000400256.3	hg19	CCDS32782.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.957920	0.73902	.	.	ENSG00000158270	ENST00000400256	T	0.21361	2.01	5.68	4.8	0.61643	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.152725	0.56097	D	0.000026	T	0.46776	0.1410	M	0.90369	3.11	0.80722	D	1	D	0.56746	0.977	P	0.57776	0.827	T	0.55147	-0.8186	10	0.59425	D	0.04	-14.8511	11.0473	0.47865	0.1436:0.0:0.8564:0.0	.	697	Q5KU26	COL12_HUMAN	K	697	ENSP00000383115:N697K	ENSP00000383115:N697K	N	-	3	2	COLEC12	311780	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.866000	0.63005	1.375000	0.46248	0.563000	0.77884	AAC		0.443	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440746.1			C	321780	G	C	321780	3	2	820	1	0	0	0	0	1	0	0	0	3714	1020	36	4	145	4	COLEC12	18	321780	Missense_Mutation	SNP	G	TCGA-Y8-A898-01A-11D-A34Z-10		321780	77755468	71	49355											
EID2	163126	hgsc.bcm.edu	37	19	40030283	40030283	+	Missense_Mutation	SNP	A	A	T			TCGA-Y8-A898-01A-11D-A34Z-10	TCGA-Y8-A898-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c71a07f-83ad-4612-a896-217d2fde9904	b87bb919-a7fb-44d5-a76a-872cb44c2dc0	g.chr19:40030283A>T	ENST00000390658.2	-	1	587	c.437T>A	c.(436-438)cTt>cAt	p.L146H		NM_153232.3	NP_694964.3			EP300 interacting inhibitor of differentiation 2											large_intestine(2)|lung(1)|urinary_tract(1)	4	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;3.2e-25)|all cancers(26;8.83e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			TAAAACGCTAAGTGGGTGGCG	0.592																																																0													89	100	96					19																	40030283		1982	4149	6131	SO:0001583	missense	163126			BC030137	CCDS12540.2	19q13.2	2008-10-24	2006-10-12	2006-10-12	ENSG00000176396	ENSG00000176396			28292	protein-coding gene	gene with protein product		609773	"CREBBP/EP300 inhibitory protein 2", "CREBBP/EP300 inhibitor 2"	CRI2		14585496	Standard	NM_153232		Approved	EID-2, MGC20452	uc002oma.3	Q8N6I1	OTTHUMG00000074073	ENST00000390658.2:c.437T>A	chr19.hg19:g.40030283A>T	ENSP00000375073:p.Leu146His			Missense_Mutation	SNP	ENST00000390658.2	hg19	CCDS12540.2	.	.	.	.	.	.	.	.	.	.	.	16.21	3.057749	0.55325	.	.	ENSG00000176396	ENST00000390658;ENST00000539700	T	0.57107	0.42	3.71	2.69	0.31865	.	0.226724	0.22676	N	0.057002	T	0.58538	0.2129	L	0.50333	1.59	0.09310	N	1	D	0.76494	0.999	D	0.64237	0.923	T	0.47328	-0.9126	10	0.87932	D	0	.	5.5698	0.17190	0.8743:0.0:0.1257:0.0	.	146	Q8N6I1	EID2_HUMAN	H	146;97	ENSP00000375073:L146H	ENSP00000375073:L146H	L	-	2	0	EID2	44722123	0.078000	0.21339	0.003000	0.11579	0.103000	0.19146	2.696000	0.47052	0.797000	0.33971	0.445000	0.29226	CTT		0.592	EID2-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157251.1	NM_153232		T	40030283	A	T	40030283	3	4	820	1	0	0	0	0	1	0	0	0	4989	72	3	5	277	5	EID2	19	40030283	Missense_Mutation	SNP	A	TCGA-Y8-A898-01A-11D-A34Z-10		40030283	19098700	72	49356											
ETFB	2109	hgsc.bcm.edu	37	19	51857559	51857559	+	Nonsense_Mutation	SNP	G	G	A	rs374288379		TCGA-Y8-A898-01A-11D-A34Z-10	TCGA-Y8-A898-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c71a07f-83ad-4612-a896-217d2fde9904	b87bb919-a7fb-44d5-a76a-872cb44c2dc0	g.chr19:51857559G>A	ENST00000309244.4	-	2	152	c.61C>T	c.(61-63)Cga>Tga	p.R21*	ETFB_ENST00000354232.4_Nonsense_Mutation_p.R112*|CTD-2616J11.11_ENST00000600067.1_Missense_Mutation_p.P40L|CTD-2616J11.9_ENST00000600974.1_RNA	NM_001985.2	NP_001976.1	P38117	ETFB_HUMAN	electron-transfer-flavoprotein, beta polypeptide	21					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)			kidney(2)|large_intestine(1)|lung(3)	6		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000226)|OV - Ovarian serous cystadenocarcinoma(262;0.00661)		GGCTTCACTCGGATCTGCCCA	0.627																																																0								G	stop/ARG,stop/ARG	0,4406		0,0,2203	79	67	71		334,61	4.2	1	19		71	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained	ETFB	NM_001014763.1,NM_001985.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	112/347,21/256	51857559	1,13005	2203	4300	6503	SO:0001587	stop_gained	2109			X71129	CCDS12828.1, CCDS33085.1	19q13.3-q13.4	2008-02-05				ENSG00000105379			3482	protein-coding gene	gene with protein product		130410					Standard	NM_001014763		Approved		uc002pwg.3	P38117		ENST00000309244.4:c.61C>T	chr19.hg19:g.51857559G>A	ENSP00000311930:p.Arg21*		A8K766|B3KNY2|Q6IBH7|Q71RF6|Q9Y3S7	Nonsense_Mutation	SNP	ENST00000309244.4	hg19	CCDS12828.1	.	.	.	.	.	.	.	.	.	.	g	36	5.716959	0.96830	0.0	1.16E-4	ENSG00000105379	ENST00000309244;ENST00000354232	.	.	.	5.22	4.17	0.49024	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.901	0.58125	0.0:0.0:0.8361:0.1639	.	.	.	.	X	21;112	.	ENSP00000311930:R21X	R	-	1	2	ETFB	56549371	1.000000	0.71417	0.991000	0.47740	0.168000	0.22595	5.166000	0.64965	1.194000	0.43101	-0.187000	0.12897	CGA		0.627	ETFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464273.1			A	51857559	G	A	51857559	4	1	820	1	0	0	0	0	0	1	0	0	5272	1124	39	1	726	1	ETFB	19	51857559	Nonsense_Mutation	SNP	G	TCGA-Y8-A898-01A-11D-A34Z-10	11827276	51857559	7271424	73	49357											
ZNF841	284371	hgsc.bcm.edu	37	19	52568431	52568431	+	Missense_Mutation	SNP	C	C	T			TCGA-Y8-A898-01A-11D-A34Z-10	TCGA-Y8-A898-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c71a07f-83ad-4612-a896-217d2fde9904	b87bb919-a7fb-44d5-a76a-872cb44c2dc0	g.chr19:52568431C>T	ENST00000426391.2	-	5	2907	c.2356G>A	c.(2356-2358)Gag>Aag	p.E786K	ZNF841_ENST00000389534.4_Missense_Mutation_p.E902K|CTC-471J1.2_ENST00000569091.1_RNA|ZNF841_ENST00000594295.1_Missense_Mutation_p.E902K|ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000359973.2_Missense_Mutation_p.E478K			Q6ZN19	ZN841_HUMAN	zinc finger protein 841	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(4)|kidney(3)|lung(3)	11						GTAAGGTTCTCTCCAGCATGT	0.363																																																0													259	217	230					19																	52568431		692	1591	2283	SO:0001583	missense	284371			AK131409	CCDS46161.1	19q13.41	2013-01-08			ENSG00000197608	ENSG00000197608		"Zinc fingers, C2H2-type", "-"	27611	protein-coding gene	gene with protein product							Standard	NM_001136499		Approved	LOC284371	uc010ydh.1	Q6ZN19		ENST00000426391.2:c.2356G>A	chr19.hg19:g.52568431C>T	ENSP00000415453:p.Glu786Lys		B9EG58|Q6ZN82|Q6ZP71|Q8N9U7	Missense_Mutation	SNP	ENST00000426391.2	hg19		.	.	.	.	.	.	.	.	.	.	C	19.00	3.742051	0.69418	.	.	ENSG00000197608	ENST00000389534;ENST00000426391;ENST00000359973	T;T;T	0.08370	3.49;3.31;3.1	1.69	-1.02	0.10135	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09024	0.0223	N	0.08118	0	0.21740	N	0.999565	D;P;P	0.63046	0.992;0.525;0.911	D;B;P	0.67548	0.952;0.022;0.78	T	0.29549	-1.0008	9	0.59425	D	0.04	.	4.9331	0.13926	0.0:0.6374:0.2172:0.1454	.	902;478;786	Q6ZN19-3;Q6ZN19-2;Q6ZN19	.;.;ZN841_HUMAN	K	902;786;478	ENSP00000374185:E902K;ENSP00000415453:E786K;ENSP00000353060:E478K	ENSP00000353060:E478K	E	-	1	0	ZNF841	57260243	0.000000	0.05858	0.001000	0.08648	0.480000	0.33159	0.344000	0.19962	-0.398000	0.07679	0.313000	0.20887	GAG		0.363	ZNF841-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000462435.1	XM_209155		T	52568431	C	T	52568431	3	4	820	1	0	0	0	0	1	0	0	0	18194	922	32	2	74	2	ZNF841	19	52568431	Missense_Mutation	SNP	C	TCGA-Y8-A898-01A-11D-A34Z-10	710872	52568431	6560552	74	49358											
RALGAPA2	57186	hgsc.bcm.edu	37	20	20392748	20392749	+	Frame_Shift_Ins	INS	-	-	GGTTCTGAATTATTGCTTCGAGATACAG	rs535510713		TCGA-Y8-A898-01A-11D-A34Z-10	TCGA-Y8-A898-10A-01D-A34Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c71a07f-83ad-4612-a896-217d2fde9904	b87bb919-a7fb-44d5-a76a-872cb44c2dc0	g.chr20:20392748_20392749insGGTTCTGAATTATTGCTTCGAGATACAG	ENST00000202677.7	-	38	5546_5547	c.5539_5540insCTGTATCTCGAAGCAATAATTCAGAACC	c.(5539-5541)cacfs	p.H1847fs		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1847					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						TACTTCGCGGTGGTTCTGAATT	0.49																																																0																																										SO:0001589	frameshift_variant	57186			AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 74"	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.5512_5539dupCTGTATCTCGAAGCAATAATTCAGAACC	chr20.hg19:g.20392748_20392749insGGTTCTGAATTATTGCTTCGAGATACAG	ENSP00000202677:p.His1847fs		Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Frame_Shift_Ins	INS	ENST00000202677.7	hg19	CCDS46584.1																																																																																				0.49	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343		GGTTCTGAATTATTGCTTCGAGATACAG	20392749	-	GGTTCTGAATTATTGCTTCGAGATACAG	20392748	7	5	820	1	0	1	1	0	0	0	0	0	13020	1696	59	0	89	0	RALGAPA2	20	20392748	Frame_Shift_Ins	INS	-	TCGA-Y8-A898-01A-11D-A34Z-10		20392748	42632772	75	49359											
TSHZ2	128553	hgsc.bcm.edu	37	20	51871518	51871519	+	Frame_Shift_Ins	INS	-	-	GATG			TCGA-Y8-A898-01A-11D-A34Z-10	TCGA-Y8-A898-10A-01D-A34Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c71a07f-83ad-4612-a896-217d2fde9904	b87bb919-a7fb-44d5-a76a-872cb44c2dc0	g.chr20:51871518_51871519insGATG	ENST00000371497.5	+	2	2408_2409	c.1521_1522insGATG	c.(1522-1524)gatfs	p.-509fs	RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Frame_Shift_Ins_p.-506fs|TSHZ2_ENST00000603338.2_Frame_Shift_Ins_p.-506fs	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2						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)	p.D508H(1)		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)			AAGACTTGGAAGATGGCTCAAA	0.455																																																1	Substitution - Missense(1)	lung(1)																																								SO:0001589	frameshift_variant	128553			AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	13010	protein-coding gene	gene with protein product		614118	"chromosome 20 open reading frame 17", "zinc finger protein 218", "teashirt family zinc finger 2"	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.1522_1525dupGATG	chr20.hg19:g.51871519_51871522dupGATG	ENSP00000360552:p.Gly509fs		B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Frame_Shift_Ins	INS	ENST00000371497.5	hg19	CCDS33490.1																																																																																				0.455	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		GATG	51871519	-	GATG	51871518	7	5	820	1	0	1	1	0	0	0	0	0	16629	69	3	0	1527	0	TSHZ2	20	51871518	Frame_Shift_Ins	INS	-	TCGA-Y8-A898-01A-11D-A34Z-10	31478770	51871518	11154002	76	49360											
LAMA5	3911	hgsc.bcm.edu	37	20	60904037	60904037	+	Missense_Mutation	SNP	G	G	A			TCGA-Y8-A898-01A-11D-A34Z-10	TCGA-Y8-A898-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c71a07f-83ad-4612-a896-217d2fde9904	b87bb919-a7fb-44d5-a76a-872cb44c2dc0	g.chr20:60904037G>A	ENST00000252999.3	-	34	4376	c.4310C>T	c.(4309-4311)cCa>cTa	p.P1437L		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1437	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)			GCAGCCACATGGACGGGCTCC	0.632																																																0													56	58	57					20																	60904037		2203	4297	6500	SO:0001583	missense	3911			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.4310C>T	chr20.hg19:g.60904037G>A	ENSP00000252999:p.Pro1437Leu		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	hg19	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	G	17.60	3.429028	0.62844	.	.	ENSG00000130702	ENST00000252999	T	0.21191	2.02	4.47	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.44540	0.1298	M	0.78049	2.395	0.80722	D	1	D	0.69078	0.997	D	0.64687	0.928	T	0.48681	-0.9014	10	0.72032	D	0.01	.	13.0337	0.58859	0.0:0.0:0.838:0.162	.	1437	O15230	LAMA5_HUMAN	L	1437	ENSP00000252999:P1437L	ENSP00000252999:P1437L	P	-	2	0	LAMA5	60337432	1.000000	0.71417	0.016000	0.15963	0.513000	0.34164	5.138000	0.64795	2.001000	0.58596	0.455000	0.32223	CCA		0.632	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		A	60904037	G	A	60904037	3	1	820	1	0	0	0	0	1	0	0	0	8611	1348	47	2	6965	2	LAMA5	20	60904037	Missense_Mutation	SNP	G	TCGA-Y8-A898-01A-11D-A34Z-10	9032519	60904037	2121483	77	49361											
MICAL3	57553	hgsc.bcm.edu	37	22	18347671	18347671	+	Missense_Mutation	SNP	T	T	A			TCGA-Y8-A898-01A-11D-A34Z-10	TCGA-Y8-A898-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c71a07f-83ad-4612-a896-217d2fde9904	b87bb919-a7fb-44d5-a76a-872cb44c2dc0	g.chr22:18347671T>A	ENST00000441493.2	-	19	2951	c.2599A>T	c.(2599-2601)Acc>Tcc	p.T867S	MICAL3_ENST00000400561.2_Missense_Mutation_p.T867S|MICAL3_ENST00000585038.1_Missense_Mutation_p.T991S|MICAL3_ENST00000444520.1_Missense_Mutation_p.T867S|MICAL3_ENST00000383094.3_Missense_Mutation_p.T867S|MICAL3_ENST00000429452.1_Missense_Mutation_p.T991S|MICAL3_ENST00000414725.2_Missense_Mutation_p.T895S|MICAL3_ENST00000207726.7_Missense_Mutation_p.T895S	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	867					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)		CTACCTGGGGTTCTCTCAGTG	0.602																																																0													92	89	90					22																	18347671		1568	3582	5150	SO:0001583	missense	57553			AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.2599A>T	chr22.hg19:g.18347671T>A	ENSP00000416015:p.Thr867Ser		B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	ENST00000441493.2	hg19	CCDS46659.1	.	.	.	.	.	.	.	.	.	.	T	10.23	1.293575	0.23564	.	.	ENSG00000093100;ENSG00000093100;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156	ENST00000441493;ENST00000429452;ENST00000400561;ENST00000444520;ENST00000414725;ENST00000383094;ENST00000207726	T;T;T;T;T;T;T	0.66638	-0.02;-0.22;-0.11;-0.11;-0.1;-0.12;-0.1	5.72	4.68	0.58851	.	0.901642	0.09446	N	0.801150	T	0.41558	0.1164	N	0.11927	0.2	0.19945	N	0.999943	P;B;B;B;B	0.34546	0.456;0.0;0.0;0.0;0.0	B;B;B;B;B	0.31614	0.133;0.001;0.001;0.001;0.001	T	0.31558	-0.9939	10	0.02654	T	1	.	7.0794	0.25223	0.133:0.0762:0.0:0.7908	.	991;895;867;867;867	B2RXJ5;Q7RTP6-3;Q7RTP6-2;Q7RTP6-4;Q7RTP6	.;.;.;.;MICA3_HUMAN	S	867;991;867;867;895;867;895	ENSP00000416015:T867S;ENSP00000414846:T991S;ENSP00000383406:T867S;ENSP00000410315:T867S;ENSP00000391827:T895S;ENSP00000372574:T867S;ENSP00000207726:T895S	ENSP00000207726:T895S	T	-	1	0	XXbac-B461K10.4;MICAL3	16727671	0.999000	0.42202	0.926000	0.36857	0.664000	0.39144	1.693000	0.37742	0.970000	0.38263	0.533000	0.62120	ACC		0.602	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			A	18347671	T	A	18347671	3	1	820	1	0	0	0	0	1	0	0	0	9573	1725	60	5	3814	5	MICAL3	22	18347671	Missense_Mutation	SNP	T	TCGA-Y8-A898-01A-11D-A34Z-10		18347671	32956895	78	49362											
MYO18B	84700	hgsc.bcm.edu	37	22	26351226	26351226	+	Missense_Mutation	SNP	C	C	T			TCGA-Y8-A898-01A-11D-A34Z-10	TCGA-Y8-A898-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c71a07f-83ad-4612-a896-217d2fde9904	b87bb919-a7fb-44d5-a76a-872cb44c2dc0	g.chr22:26351226C>T	ENST00000407587.2	+	39	6224	c.6055C>T	c.(6055-6057)Cgg>Tgg	p.R2019W	MYO18B_ENST00000536101.1_Missense_Mutation_p.R2018W|MYO18B_ENST00000335473.7_Missense_Mutation_p.R2018W			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2018	Tail.					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						GTCCCAGCAGCGGGAGAGCAG	0.662																																																0													19	25	23					22																	26351226		1941	4143	6084	SO:0001583	missense	84700			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.6055C>T	chr22.hg19:g.26351226C>T	ENSP00000386096:p.Arg2019Trp		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	hg19		.	.	.	.	.	.	.	.	.	.	C	16.13	3.036701	0.54896	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.87729	-2.26;-2.26;-2.29	4.86	0.906	0.19314	.	0.256362	0.29355	N	0.012391	D	0.86560	0.5962	L	0.40543	1.245	0.34839	D	0.740504	D;D;D;D;D	0.71674	0.998;0.997;0.997;0.998;0.998	P;P;P;P;P	0.55713	0.782;0.61;0.61;0.721;0.782	D	0.89330	0.3646	10	0.87932	D	0	.	12.3547	0.55167	0.6837:0.3163:0.0:0.0	.	1531;2020;2018;2019;2018	Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7	.;.;MY18B_HUMAN;.;.	W	2018;2018;2019	ENSP00000441229:R2018W;ENSP00000334563:R2018W;ENSP00000386096:R2019W	ENSP00000334563:R2018W	R	+	1	2	MYO18B	24681226	1.000000	0.71417	0.998000	0.56505	0.218000	0.24690	1.990000	0.40717	0.548000	0.28955	-0.293000	0.09583	CGG		0.662	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		T	26351226	C	T	26351226	3	4	820	1	0	0	0	0	1	0	0	0	10068	759	27	1	6202	1	MYO18B	22	26351226	Missense_Mutation	SNP	C	TCGA-Y8-A898-01A-11D-A34Z-10	8003555	26351226	24953340	79	49363											
EP300	2033	hgsc.bcm.edu	37	22	41545134	41545134	+	Frame_Shift_Del	DEL	A	A	-	rs374281264	byFrequency	TCGA-Y8-A898-01A-11D-A34Z-10	TCGA-Y8-A898-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8c71a07f-83ad-4612-a896-217d2fde9904	b87bb919-a7fb-44d5-a76a-872cb44c2dc0	g.chr22:41545134delA	ENST00000263253.7	+	13	3553	c.2334delA	c.(2332-2334)acafs	p.T778fs		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	778					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						TGAATGTAACAAATATCCCTT	0.453			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																														Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"L, E"	0													143	123	129					22																	41545134		2203	4300	6503	SO:0001589	frameshift_variant	2033	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"Chromatin-modifying enzymes / K-acetyltransferases"	3373	protein-coding gene	gene with protein product	"histone acetyltransferase p300"	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.2334delA	chr22.hg19:g.41545134delA	ENSP00000263253:p.Thr778fs		B1AKC2	Frame_Shift_Del	DEL	ENST00000263253.7	hg19	CCDS14010.1																																																																																				0.453	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		-	41545134	A	-	41545134	7	5	820	1	0	1	0	1	0	0	0	0	5150	117	5	0	2384	0	EP300	22	41545134	Frame_Shift_Del	DEL	A	TCGA-Y8-A898-01A-11D-A34Z-10	15193908	41545134	9759432	80	49364											
TEKT2	27285	hgsc.bcm.edu	37	1	36553152	36553152	+	Missense_Mutation	SNP	A	A	T			TCGA-Y8-A8RY-01A-11D-A36X-10	TCGA-Y8-A8RY-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fbd6df33-90cf-4c79-bf0c-9f5bd762c16f	7a66b4e5-8f59-4d6e-b6dc-58884cf787ff	g.chr1:36553152A>T	ENST00000207457.3	+	8	1095	c.968A>T	c.(967-969)tAc>tTc	p.Y323F	ADPRHL2_ENST00000373178.4_5'Flank	NM_014466.2	NP_055281.2	Q9UIF3	TEKT2_HUMAN	tektin 2 (testicular)	323					cell projection organization (GO:0030030)|inner dynein arm assembly (GO:0036159)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCCAGAACCTACCGGCCCAAC	0.617																																																0													41	48	45					1																	36553152		2203	4300	6503	SO:0001583	missense	27285			AB033823	CCDS401.1	1p34.3	2008-02-05			ENSG00000092850	ENSG00000092850			11725	protein-coding gene	gene with protein product		608953				12029069, 11751288	Standard	NM_014466		Approved	TEKTB1	uc001bzr.3	Q9UIF3	OTTHUMG00000007629	ENST00000207457.3:c.968A>T	chr1.hg19:g.36553152A>T	ENSP00000207457:p.Tyr323Phe		A6NIS6|O60638	Missense_Mutation	SNP	ENST00000207457.3	hg19	CCDS401.1	.	.	.	.	.	.	.	.	.	.	A	14.51	2.557648	0.45590	.	.	ENSG00000092850	ENST00000207457	T	0.02579	4.24	5.4	1.66	0.24008	.	0.609329	0.18043	N	0.153548	T	0.04182	0.0116	L	0.42245	1.32	0.30668	N	0.75363	P	0.52316	0.952	P	0.52386	0.697	T	0.22836	-1.0205	10	0.11485	T	0.65	.	5.9945	0.19487	0.7415:0.0:0.1373:0.1212	.	323	Q9UIF3	TEKT2_HUMAN	F	323	ENSP00000207457:Y323F	ENSP00000207457:Y323F	Y	+	2	0	TEKT2	36325739	0.898000	0.30612	0.999000	0.59377	0.992000	0.81027	1.330000	0.33781	0.329000	0.23460	0.460000	0.39030	TAC		0.617	TEKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020200.1	NM_014466		T	36553152	A	T	36553152	3	4	821	1	0	0	0	0	1	0	0	0	15758	391	14	5	994	5	TEKT2	1	36553152	Missense_Mutation	SNP	A	TCGA-Y8-A8RY-01A-11D-A36X-10		36553152	212697469	1	49365											
RIMKLA	284716	hgsc.bcm.edu	37	1	42875853	42875853	+	Missense_Mutation	SNP	C	C	T			TCGA-Y8-A8RY-01A-11D-A36X-10	TCGA-Y8-A8RY-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fbd6df33-90cf-4c79-bf0c-9f5bd762c16f	7a66b4e5-8f59-4d6e-b6dc-58884cf787ff	g.chr1:42875853C>T	ENST00000431473.3	+	4	809	c.680C>T	c.(679-681)tCt>tTt	p.S227F		NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family member A	227	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						AGCAACTGCTCTCTCGGTAAG	0.512																																																0													86	85	85					1																	42875853		2203	4300	6503	SO:0001583	missense	284716			BC039737	CCDS466.2	1p34.2	2011-09-21	2008-10-13	2008-10-13	ENSG00000177181	ENSG00000177181	6.3.2.N6		28725	protein-coding gene	gene with protein product	"N-acetylaspartylglutamate synthetase II"		"family with sequence similarity 80, member A"	FAM80A		20657015, 21454531	Standard	NM_173642		Approved	MGC47816, RP11-157D18.1, NAAGS-II	uc001chi.2	Q8IXN7	OTTHUMG00000007335	ENST00000431473.3:c.680C>T	chr1.hg19:g.42875853C>T	ENSP00000414330:p.Ser227Phe		Q5VUS5	Missense_Mutation	SNP	ENST00000431473.3	hg19	CCDS466.2	.	.	.	.	.	.	.	.	.	.	C	15.40	2.823247	0.50739	.	.	ENSG00000177181	ENST00000431473	.	.	.	5.74	4.82	0.62117	ATP-grasp fold (1);ATP-grasp fold, RimK-type (1);ATP-grasp fold, subdomain 2 (1);	0.171847	0.53938	N	0.000060	T	0.63873	0.2548	M	0.87900	2.915	0.44469	D	0.9974	B	0.13145	0.007	B	0.20577	0.03	T	0.61941	-0.6959	8	.	.	.	-5.9282	7.5817	0.27970	0.0:0.744:0.1669:0.0891	.	227	Q8IXN7	RIMKA_HUMAN	F	227	.	.	S	+	2	0	RIMKLA	42648440	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.316000	0.59178	1.402000	0.46780	0.650000	0.86243	TCT		0.512	RIMKLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019174.3	NM_173642		T	42875853	C	T	42875853	3	4	821	1	0	0	0	0	1	0	0	0	13371	913	32	2	694	2	RIMKLA	1	42875853	Missense_Mutation	SNP	C	TCGA-Y8-A8RY-01A-11D-A36X-10	6322701	42875853	206374768	2	49366											
MAST2	23139	hgsc.bcm.edu	37	1	46501468	46501468	+	Missense_Mutation	SNP	T	T	A			TCGA-Y8-A8RY-01A-11D-A36X-10	TCGA-Y8-A8RY-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fbd6df33-90cf-4c79-bf0c-9f5bd762c16f	7a66b4e5-8f59-4d6e-b6dc-58884cf787ff	g.chr1:46501468T>A	ENST00000361297.2	+	29	5410	c.5127T>A	c.(5125-5127)agT>agA	p.S1709R	MAST2_ENST00000372009.2_Missense_Mutation_p.S1519R	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)					AGCCACCTAGTGCCCCCAGAC	0.582																																																0													58	66	63					1																	46501468		1967	4153	6120	SO:0001583	missense	23139			AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.5127T>A	chr1.hg19:g.46501468T>A	ENSP00000354671:p.Ser1709Arg			Missense_Mutation	SNP	ENST00000361297.2	hg19	CCDS41326.1	.	.	.	.	.	.	.	.	.	.	t	9.412	1.080872	0.20309	.	.	ENSG00000086015	ENST00000361297;ENST00000372009	T;T	0.66280	-0.11;-0.2	5.67	1.86	0.25419	.	2.019210	0.01799	N	0.032797	T	0.49406	0.1555	N	0.24115	0.695	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.11329	0.006;0.006	T	0.42327	-0.9458	10	0.59425	D	0.04	1.5002	4.9458	0.13989	0.0:0.1837:0.1615:0.6549	.	1519;1709	E7ERL6;Q6P0Q8	.;MAST2_HUMAN	R	1709;1519	ENSP00000354671:S1709R;ENSP00000361079:S1519R	ENSP00000354671:S1709R	S	+	3	2	MAST2	46274055	0.000000	0.05858	0.009000	0.14445	0.492000	0.33523	0.007000	0.13174	0.981000	0.38548	0.454000	0.30748	AGT		0.582	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112		A	46501468	T	A	46501468	3	1	821	1	0	0	0	0	1	0	0	0	9327	1693	59	5	5241	5	MAST2	1	46501468	Missense_Mutation	SNP	T	TCGA-Y8-A8RY-01A-11D-A36X-10	3625615	46501468	202749153	3	49367											
ACOT11	26027	hgsc.bcm.edu	37	1	55060319	55060319	+	Frame_Shift_Del	DEL	G	G	-			TCGA-Y8-A8RY-01A-11D-A36X-10	TCGA-Y8-A8RY-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fbd6df33-90cf-4c79-bf0c-9f5bd762c16f	7a66b4e5-8f59-4d6e-b6dc-58884cf787ff	g.chr1:55060319delG	ENST00000371316.3	+	6	644	c.562delG	c.(562-564)gcafs	p.A188fs	ACOT11_ENST00000343744.2_Frame_Shift_Del_p.A188fs|ACOT11_ENST00000481208.1_3'UTR	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	188					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)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						CCTTGTCTATGCAGACACCAT	0.637																																					Ovarian(148;1440 1861 22015 32453 51933)											0													56	52	53					1																	55060319		2203	4300	6503	SO:0001589	frameshift_variant	26027			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.562delG	chr1.hg19:g.55060319delG	ENSP00000360366:p.Ala188fs		B1AQ22|D3DQ50|O75187|Q52LP1|Q53ER9|Q96DI1|Q9H883	Frame_Shift_Del	DEL	ENST00000371316.3	hg19	CCDS592.1																																																																																				0.637	ACOT11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027356.1	NM_015547		-	55060319	G	-	55060319	7	5	821	1	0	1	0	1	0	0	0	0	149	1319	46	0	584	0	ACOT11	1	55060319	Frame_Shift_Del	DEL	G	TCGA-Y8-A8RY-01A-11D-A36X-10	8558851	55060319	194190302	4	49368											
L1TD1	54596	hgsc.bcm.edu	37	1	62675664	62675664	+	Missense_Mutation	SNP	G	G	T	rs200931139|rs532563709		TCGA-Y8-A8RY-01A-11D-A36X-10	TCGA-Y8-A8RY-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fbd6df33-90cf-4c79-bf0c-9f5bd762c16f	7a66b4e5-8f59-4d6e-b6dc-58884cf787ff	g.chr1:62675664G>T	ENST00000498273.1	+	4	1513	c.1218G>T	c.(1216-1218)gaG>gaT	p.E406D	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	406	Glu-rich.									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						Tggaggaggaggaggaagagc	0.547																																																0													36	40	39					1																	62675664		2200	4298	6498	SO:0001583	missense	54596			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.1218G>T	chr1.hg19:g.62675664G>T	ENSP00000419901:p.Glu406Asp		Q8NDA1|Q9NUV8|Q9NV78	Missense_Mutation	SNP	ENST00000498273.1	hg19	CCDS619.1	.	.	.	.	.	.	.	.	.	.	G	7.766	0.706401	0.15239	.	.	ENSG00000240563	ENST00000498273	T	0.18810	2.19	3.4	-2.4	0.06583	.	.	.	.	.	T	0.07683	0.0193	N	0.12182	0.205	0.09310	N	1	B	0.15473	0.013	B	0.11329	0.006	T	0.38001	-0.9681	9	0.15952	T	0.53	.	0.3571	0.00358	0.2201:0.167:0.2729:0.34	.	406	Q5T7N2	LITD1_HUMAN	D	406	ENSP00000419901:E406D	ENSP00000419901:E406D	E	+	3	2	L1TD1	62448252	0.053000	0.20554	0.000000	0.03702	0.031000	0.12232	0.041000	0.13927	-0.479000	0.06813	0.448000	0.29417	GAG		0.547	L1TD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024688.1	NM_019079		T	62675664	G	T	62675664	3	4	821	1	0	0	0	0	1	0	0	0	8591	991	35	4	1224	4	L1TD1	1	62675664	Missense_Mutation	SNP	G	TCGA-Y8-A8RY-01A-11D-A36X-10	7615345	62675664	186574957	5	49369											
PGM1	5236	hgsc.bcm.edu	37	1	64125282	64125282	+	Frame_Shift_Del	DEL	T	T	-			TCGA-Y8-A8RY-01A-11D-A36X-10	TCGA-Y8-A8RY-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fbd6df33-90cf-4c79-bf0c-9f5bd762c16f	7a66b4e5-8f59-4d6e-b6dc-58884cf787ff	g.chr1:64125282delT	ENST00000371084.3	+	11	1838	c.1625delT	c.(1624-1626)attfs	p.I542fs	PGM1_ENST00000540265.1_Frame_Shift_Del_p.I345fs|PGM1_ENST00000371083.4_Frame_Shift_Del_p.I560fs	NM_002633.2	NP_002624.2	P36871	PGM1_HUMAN	phosphoglucomutase 1	542					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						CTTATTTCCATTGCTCTGAAA	0.532																																																0													168	132	144					1																	64125282		2203	4300	6503	SO:0001589	frameshift_variant	5236			BC019920	CCDS625.1, CCDS53323.1, CCDS53324.1	1p22.1	2012-10-02			ENSG00000079739	ENSG00000079739	5.4.2.2		8905	protein-coding gene	gene with protein product		171900				4517931, 1530890	Standard	NM_002633		Approved		uc010ooz.2	P36871	OTTHUMG00000008968	ENST00000371084.3:c.1625delT	chr1.hg19:g.64125282delT	ENSP00000360125:p.Ile542fs		B2R5N9|B4DPV0|Q16105|Q16106|Q5BKZ9|Q6NW22|Q86U74|Q96J40|Q9NTY4	Frame_Shift_Del	DEL	ENST00000371084.3	hg19	CCDS625.1																																																																																				0.532	PGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024868.1	NM_002633		-	64125282	T	-	64125282	7	5	821	1	0	1	0	1	0	0	0	0	11799	1493	52	0	1971	0	PGM1	1	64125282	Frame_Shift_Del	DEL	T	TCGA-Y8-A8RY-01A-11D-A36X-10	1449618	64125282	185125339	6	49370											
APH1A	51107	hgsc.bcm.edu	37	1	150239509	150239509	+	Missense_Mutation	SNP	A	A	T			TCGA-Y8-A8RY-01A-11D-A36X-10	TCGA-Y8-A8RY-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fbd6df33-90cf-4c79-bf0c-9f5bd762c16f	7a66b4e5-8f59-4d6e-b6dc-58884cf787ff	g.chr1:150239509A>T	ENST00000369109.3	-	5	763	c.575T>A	c.(574-576)cTg>cAg	p.L192Q	C1orf54_ENST00000369102.1_5'Flank|APH1A_ENST00000461320.1_5'UTR|APH1A_ENST00000360244.4_Missense_Mutation_p.L192Q|APH1A_ENST00000414276.2_Missense_Mutation_p.L122Q	NM_001077628.2	NP_001071096.1	Q96BI3	APH1A_HUMAN	APH1A gamma secretase subunit	192					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|metanephros development (GO:0001656)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	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)			CCCAACCACCAGGCCCAAAGC	0.537																																																0													89	92	91					1																	150239509		1983	4183	6166	SO:0001583	missense	51107			AF151835	CCDS41390.1, CCDS41391.1, CCDS58025.1	1q21.2	2013-05-01	2013-05-01		ENSG00000117362	ENSG00000117362			29509	protein-coding gene	gene with protein product		607629	"anterior pharynx defective 1 homolog A (C. elegans)"			10810093, 12110170	Standard	NM_001077628		Approved	APH-1A, CGI-78	uc001ety.2	Q96BI3	OTTHUMG00000012545	ENST00000369109.3:c.575T>A	chr1.hg19:g.150239509A>T	ENSP00000358105:p.Leu192Gln		B4DQK0|Q5TB22|Q5TB23|Q969R6|Q9BVG0|Q9Y386	Missense_Mutation	SNP	ENST00000369109.3	hg19	CCDS41390.1	.	.	.	.	.	.	.	.	.	.	A	14.46	2.542455	0.45280	.	.	ENSG00000117362	ENST00000369109;ENST00000360244;ENST00000414276;ENST00000236017	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	5.18	5.18	0.71444	.	0.292176	0.26658	N	0.023175	T	0.47229	0.1434	L	0.60455	1.87	0.33621	D	0.604855	P;D;D;P;P;P	0.71674	0.791;0.973;0.998;0.897;0.916;0.952	P;P;D;P;P;P	0.63488	0.5;0.761;0.915;0.648;0.761;0.761	T	0.52230	-0.8603	10	0.51188	T	0.08	-5.2965	13.2852	0.60239	1.0:0.0:0.0:0.0	.	76;135;122;192;192;192	B4DMX8;B4DUG7;B4DQK0;Q96BI3-2;Q5TB22;Q96BI3	.;.;.;.;.;APH1A_HUMAN	Q	192;192;122;135	ENSP00000358105:L192Q;ENSP00000353380:L192Q;ENSP00000397473:L122Q;ENSP00000236017:L135Q	ENSP00000236017:L135Q	L	-	2	0	APH1A	148506133	0.142000	0.22610	1.000000	0.80357	0.995000	0.86356	1.200000	0.32247	2.297000	0.77311	0.533000	0.62120	CTG		0.537	APH1A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000035048.1	NM_016022		T	150239509	A	T	150239509	3	4	821	1	0	0	0	0	1	0	0	0	771	188	7	5	245	5	APH1A	1	150239509	Missense_Mutation	SNP	A	TCGA-Y8-A8RY-01A-11D-A36X-10	86114227	150239509	99011112	7	49371											
TMEM79	84283	hgsc.bcm.edu	37	1	156261269	156261269	+	Missense_Mutation	SNP	G	G	C			TCGA-Y8-A8RY-01A-11D-A36X-10	TCGA-Y8-A8RY-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fbd6df33-90cf-4c79-bf0c-9f5bd762c16f	7a66b4e5-8f59-4d6e-b6dc-58884cf787ff	g.chr1:156261269G>C	ENST00000405535.2	+	4	1236	c.1065G>C	c.(1063-1065)tgG>tgC	p.W355C	TMEM79_ENST00000295694.5_Missense_Mutation_p.W355C|TMEM79_ENST00000357501.2_Missense_Mutation_p.E117Q|TMEM79_ENST00000495881.1_3'UTR|C1orf85_ENST00000482579.1_5'Flank	NM_032323.2	NP_115699.1	Q9BSE2	TMM79_HUMAN	transmembrane protein 79	355					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)					TGCTGATGTGGAACCTCTACT	0.632																																																0													141	132	135					1																	156261269		2203	4300	6503	SO:0001583	missense	84283			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.1065G>C	chr1.hg19:g.156261269G>C	ENSP00000384748:p.Trp355Cys		B2RE22|D3DVB8	Missense_Mutation	SNP	ENST00000405535.2	hg19	CCDS1138.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.12|12.12	1.844054|1.844054	0.32606|0.32606	.|.	.|.	ENSG00000163472|ENSG00000163472	ENST00000357501;ENST00000456810|ENST00000295694;ENST00000405535	.|T;T	.|0.48201	.|0.82;0.82	5.7|5.7	4.78|4.78	0.61160|0.61160	.|.	.|0.368304	.|0.30374	.|N	.|0.009780	T|T	0.25717|0.25717	0.0626|0.0626	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	.|P	.|0.42941	.|0.794	.|B	.|0.43052	.|0.406	T|T	0.06058|0.06058	-1.0848|-1.0848	6|10	0.87932|0.41790	D|T	0|0.15	-3.2299|-3.2299	12.6166|12.6166	0.56580|0.56580	0.0:0.0:0.6985:0.3015|0.0:0.0:0.6985:0.3015	.|.	.|355	.|Q9BSE2	.|TMM79_HUMAN	Q|C	117|355	.|ENSP00000295694:W355C;ENSP00000384748:W355C	ENSP00000350100:E117Q|ENSP00000295694:W355C	E|W	+|+	1|3	0|0	TMEM79|TMEM79	154527893|154527893	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.325000|0.325000	0.28411|0.28411	4.330000|4.330000	0.59266|0.59266	1.390000|1.390000	0.46547|0.46547	-0.181000|-0.181000	0.13052|0.13052	GAA|TGG		0.632	TMEM79-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052101.1	NM_032323		C	156261269	G	C	156261269	3	2	821	1	0	0	0	0	1	0	0	0	16208	1183	41	4	1075	4	TMEM79	1	156261269	Missense_Mutation	SNP	G	TCGA-Y8-A8RY-01A-11D-A36X-10	6021760	156261269	92989352	8	49372											
POU2F1	5451	hgsc.bcm.edu	37	1	167343522	167343522	+	Nonsense_Mutation	SNP	C	C	T			TCGA-Y8-A8RY-01A-11D-A36X-10	TCGA-Y8-A8RY-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fbd6df33-90cf-4c79-bf0c-9f5bd762c16f	7a66b4e5-8f59-4d6e-b6dc-58884cf787ff	g.chr1:167343522C>T	ENST00000541643.3	+	7	673	c.511C>T	c.(511-513)Cag>Tag	p.Q171*	POU2F1_ENST00000367866.2_Nonsense_Mutation_p.Q194*|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000367862.5_Nonsense_Mutation_p.Q183*|POU2F1_ENST00000452019.1_Nonsense_Mutation_p.Q171*|POU2F1_ENST00000429375.2_Intron|POU2F1_ENST00000420254.3_Nonsense_Mutation_p.Q171*			P14859	PO2F1_HUMAN	POU class 2 homeobox 1	171					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						TCAGCCCATACAGATCGCACA	0.532																																																0													26	27	26					1																	167343522		2203	4300	6503	SO:0001587	stop_gained	5451			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.511C>T	chr1.hg19:g.167343522C>T	ENSP00000441285:p.Gln171*		B1AL91|B1AL93|B4E029|J3KP77|Q5TBT7|Q6PK46|Q8NEU9|Q9BPV1	Nonsense_Mutation	SNP	ENST00000541643.3	hg19		.	.	.	.	.	.	.	.	.	.	C	38	6.800924	0.97849	.	.	ENSG00000143190	ENST00000367866;ENST00000452019;ENST00000492850;ENST00000367865;ENST00000420254;ENST00000541643;ENST00000367862;ENST00000443275	.	.	.	5.77	5.77	0.91146	.	0.232564	0.28952	N	0.013612	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	20.0589	0.97667	0.0:1.0:0.0:0.0	.	.	.	.	X	194;171;48;169;171;171;183;79	.	ENSP00000356836:Q183X	Q	+	1	0	POU2F1	165610146	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	7.453000	0.80700	2.732000	0.93576	0.650000	0.86243	CAG		0.532	POU2F1-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_002697		T	167343522	C	T	167343522	4	4	821	1	0	0	0	0	0	1	0	0	12273	479	17	2	529	2	POU2F1	1	167343522	Nonsense_Mutation	SNP	C	TCGA-Y8-A8RY-01A-11D-A36X-10	11082253	167343522	81907099	9	49373											
QSOX1	5768	hgsc.bcm.edu	37	1	180148011	180148011	+	Missense_Mutation	SNP	G	G	C			TCGA-Y8-A8RY-01A-11D-A36X-10	TCGA-Y8-A8RY-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fbd6df33-90cf-4c79-bf0c-9f5bd762c16f	7a66b4e5-8f59-4d6e-b6dc-58884cf787ff	g.chr1:180148011G>C	ENST00000367602.3	+	5	672	c.598G>C	c.(598-600)Ggt>Cgt	p.G200R	QSOX1_ENST00000367600.5_Missense_Mutation_p.G200R			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	200			G -> A (in dbSNP:rs17855475). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16806532, ECO:0000269|Ref.4}.		cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)	flavin-linked sulfhydryl oxidase activity (GO:0016971)|protein disulfide isomerase activity (GO:0003756)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CTCCTACCTGGGTAGAGAGGT	0.507											OREG0014018	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													100	104	103					1																	180148011		2203	4300	6503	SO:0001583	missense	5768			U97276	CCDS1337.1, CCDS30950.1	1q24	2008-02-05	2007-04-23	2007-04-23	ENSG00000116260	ENSG00000116260			9756	protein-coding gene	gene with protein product		603120	"quiescin Q6"	QSCN6		9878249, 8396966	Standard	NM_002826		Approved		uc001gnz.3	O00391	OTTHUMG00000035256	ENST00000367602.3:c.598G>C	chr1.hg19:g.180148011G>C	ENSP00000356574:p.Gly200Arg	1959	Q59G29|Q5T2X0|Q8TDL6|Q8WVP4	Missense_Mutation	SNP	ENST00000367602.3	hg19	CCDS1337.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.026464	0.93518	.	.	ENSG00000116260	ENST00000367602;ENST00000367600	T;T	0.08807	3.08;3.05	5.91	5.91	0.95273	.	0.144731	0.64402	D	0.000007	T	0.36744	0.0978	M	0.89287	3.02	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.15809	-1.0424	10	0.56958	D	0.05	-15.3101	17.2153	0.86941	0.0:0.0:1.0:0.0	.	200;200	O00391;O00391-2	QSOX1_HUMAN;.	R	200	ENSP00000356574:G200R;ENSP00000356572:G200R	ENSP00000356572:G200R	G	+	1	0	QSOX1	178414634	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.654000	0.83653	2.793000	0.96121	0.655000	0.94253	GGT		0.507	QSOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085289.1	NM_002826		C	180148011	G	C	180148011	3	2	821	1	0	0	0	0	1	0	0	0	12889	1232	43	4	616	4	QSOX1	1	180148011	Missense_Mutation	SNP	G	TCGA-Y8-A8RY-01A-11D-A36X-10	12804489	180148011	69102610	10	49374											
C2orf65	130951	hgsc.bcm.edu	37	2	74802619	74802619	+	Nonsense_Mutation	SNP	C	C	T			TCGA-Y8-A8RY-01A-11D-A36X-10	TCGA-Y8-A8RY-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fbd6df33-90cf-4c79-bf0c-9f5bd762c16f	7a66b4e5-8f59-4d6e-b6dc-58884cf787ff	g.chr2:74802619C>T	ENST00000290536.5	-	7	1136	c.1020G>A	c.(1018-1020)tgG>tgA	p.W340*	M1AP_ENST00000358434.2_Nonsense_Mutation_p.W58*|M1AP_ENST00000464686.1_5'UTR|M1AP_ENST00000536235.1_Nonsense_Mutation_p.W340*|M1AP_ENST00000409585.1_Nonsense_Mutation_p.W340*	NM_001281296.1|NM_138804.3	NP_001268225.1|NP_620159.2	Q8TC57	M1AP_HUMAN	meiosis 1 associated protein	340					cell differentiation (GO:0030154)|chromatin assembly (GO:0031497)|female gamete generation (GO:0007292)|male meiosis chromosome separation (GO:0051308)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)											CCAGCTCATCCCAGTCCAGCT	0.478																																																0													126	117	120					2																	74802619		2203	4300	6503	SO:0001587	stop_gained	130951				CCDS33229.1, CCDS62941.1	2p13.1	2013-02-05	2013-02-05	2013-01-16	ENSG00000159374	ENSG00000159374			25183	protein-coding gene	gene with protein product	"meiosis 1 arresting protein", "spermatogenesis associated 37"		"chromosome 2 open reading frame 65"	C2orf65		16881047, 23269666	Standard	NM_138804		Approved	D6Mm5e, SPATA37	uc002smy.3	Q8TC57	OTTHUMG00000152918	ENST00000290536.5:c.1020G>A	chr2.hg19:g.74802619C>T	ENSP00000290536:p.Trp340*		B7Z6E7|E9PGG8|Q6ZP30|Q96L07	Nonsense_Mutation	SNP	ENST00000290536.5	hg19	CCDS33229.1	.	.	.	.	.	.	.	.	.	.	C	36	5.900307	0.97081	.	.	ENSG00000159374	ENST00000290536;ENST00000409585;ENST00000536235;ENST00000358434	.	.	.	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.4491	13.5676	0.61828	0.0:1.0:0.0:0.0	.	.	.	.	X	340;340;340;58	.	ENSP00000290536:W340X	W	-	3	0	C2orf65	74656127	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.201000	0.72124	2.550000	0.86006	0.655000	0.94253	TGG		0.478	M1AP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328569.1	NM_138804		T	74802619	C	T	74802619	4	4	821	1	0	0	0	0	0	1	0	0	2186	624	22	2	592	2	C2orf65	2	74802619	Nonsense_Mutation	SNP	C	TCGA-Y8-A8RY-01A-11D-A36X-10		74802619	168396754	11	49375											
ACVR2A	92	hgsc.bcm.edu	37	2	148677844	148677844	+	Silent	SNP	T	T	A			TCGA-Y8-A8RY-01A-11D-A36X-10	TCGA-Y8-A8RY-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fbd6df33-90cf-4c79-bf0c-9f5bd762c16f	7a66b4e5-8f59-4d6e-b6dc-58884cf787ff	g.chr2:148677844T>A	ENST00000241416.7	+	8	1644	c.1008T>A	c.(1006-1008)gcT>gcA	p.A336A	ACVR2A_ENST00000404590.1_Silent_p.A336A|ACVR2A_ENST00000535787.1_Silent_p.A228A	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	336	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|gastrulation with mouth forming second (GO:0001702)|mesoderm development (GO:0007498)|penile erection (GO:0043084)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|regulation of BMP signaling pathway (GO:0030510)|regulation of nitric-oxide synthase activity (GO:0050999)|Sertoli cell proliferation (GO:0060011)|sperm ejaculation (GO:0042713)|spermatogenesis (GO:0007283)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|coreceptor activity (GO:0015026)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		ACCTGACAGCTTGCATTGCTG	0.348																																																0													93	97	96					2																	148677844		2203	4300	6503	SO:0001819	synonymous_variant	92				CCDS33301.1, CCDS63030.1	2q22.2-q23.3	2008-02-05	2005-05-10	2005-05-10	ENSG00000121989	ENSG00000121989			173	protein-coding gene	gene with protein product		102581	"activin A receptor, type II"	ACVR2		1314589, 10702675	Standard	NM_001278579		Approved	ACTRII	uc002twh.3	P27037	OTTHUMG00000150603	ENST00000241416.7:c.1008T>A	chr2.hg19:g.148677844T>A			B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Silent	SNP	ENST00000241416.7	hg19	CCDS33301.1																																																																																				0.348	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319051.1	NM_001616		A	148677844	T	A	148677844	2	1	821	1	0	0	0	0	0	0	0	1	223	1596	56	5		5	ACVR2A	2	148677844	Silent	SNP	T	TCGA-Y8-A8RY-01A-11D-A36X-10	73875225	148677844	94521529	12	49376											
CRYGD	1421	hgsc.bcm.edu	37	2	208988981	208988981	+	Missense_Mutation	SNP	G	G	A	rs200234608		TCGA-Y8-A8RY-01A-11D-A36X-10	TCGA-Y8-A8RY-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fbd6df33-90cf-4c79-bf0c-9f5bd762c16f	7a66b4e5-8f59-4d6e-b6dc-58884cf787ff	g.chr2:208988981G>A	ENST00000264376.4	-	2	134	c.107C>T	c.(106-108)gCg>gTg	p.A36V		NM_006891.3	NP_008822.2	P07320	CRGD_HUMAN	crystallin, gamma D	36	Beta/gamma crystallin 'Greek key' 1. {ECO:0000255|PROSITE-ProRule:PRU00028}.				cellular response to reactive oxygen species (GO:0034614)|lens development in camera-type eye (GO:0002088)|lens fiber cell differentiation (GO:0070306)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)			breast(1)|endometrium(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		GTCCACGCGCGCCGAGTTGCA	0.652																																																0													11	13	12					2																	208988981		2179	4274	6453	SO:0001583	missense	1421				CCDS2378.1	2q33.3	2013-02-14			ENSG00000118231	ENSG00000118231			2411	protein-coding gene	gene with protein product		123690		CRYG4			Standard	NM_006891		Approved		uc002vcn.4	P07320	OTTHUMG00000132944	ENST00000264376.4:c.107C>T	chr2.hg19:g.208988981G>A	ENSP00000264376:p.Ala36Val		Q17RF7|Q53R51|Q99681	Missense_Mutation	SNP	ENST00000264376.4	hg19	CCDS2378.1	.	.	.	.	.	.	.	.	.	.	G	11.40	1.627591	0.28978	.	.	ENSG00000118231	ENST00000264376	T	0.72051	-0.62	4.35	3.19	0.36642	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.184420	0.36703	N	0.002444	T	0.29389	0.0732	N	0.00166	-1.94	0.09310	N	0.999995	B	0.02656	0.0	B	0.01281	0.0	T	0.34875	-0.9811	10	0.32370	T	0.25	.	8.1681	0.31239	0.9021:0.0:0.0979:0.0	.	36	P07320	CRGD_HUMAN	V	36	ENSP00000264376:A36V	ENSP00000264376:A36V	A	-	2	0	CRYGD	208697226	0.280000	0.24249	0.067000	0.19924	0.966000	0.64601	2.073000	0.41519	0.695000	0.31675	-0.573000	0.04149	GCG		0.652	CRYGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256476.2	NM_006891		A	208988981	G	A	208988981	3	1	821	1	0	0	0	0	1	0	0	0	3919	1087	38	1	425	1	CRYGD	2	208988981	Missense_Mutation	SNP	G	TCGA-Y8-A8RY-01A-11D-A36X-10	60311137	208988981	34210392	13	49377											
ABCA12	26154	hgsc.bcm.edu	37	2	215820066	215820067	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-Y8-A8RY-01A-11D-A36X-10	TCGA-Y8-A8RY-10A-01D-A370-10	TC	TC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fbd6df33-90cf-4c79-bf0c-9f5bd762c16f	7a66b4e5-8f59-4d6e-b6dc-58884cf787ff	g.chr2:215820066_215820067delTC	ENST00000272895.7	-	43	6471_6472	c.6252_6253delGA	c.(6250-6255)tggatgfs	p.WM2084fs	AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Frame_Shift_Del_p.WM1766fs	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2084					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)		AGCAAGTACATCCAGGAAAATG	0.436																																					Ovarian(66;664 1488 5121 34295)											0																																										SO:0001589	frameshift_variant	26154			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.6252_6253delGA	chr2.hg19:g.215820066_215820067delTC	ENSP00000272895:p.Trp2084fs		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Frame_Shift_Del	DEL	ENST00000272895.7	hg19	CCDS33372.1																																																																																				0.436	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		-	215820067	TC	-	215820066	7	5	821	1	0	1	0	1	0	0	0	0	30	1435	50	0	1578	0	ABCA12	2	215820066	Frame_Shift_Del	DEL	TC	TCGA-Y8-A8RY-01A-11D-A36X-10	6831085	215820066	27379307	14	49378											
CTDSP1	58190	hgsc.bcm.edu	37	2	219268024	219268024	+	Missense_Mutation	SNP	T	T	A			TCGA-Y8-A8RY-01A-11D-A36X-10	TCGA-Y8-A8RY-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fbd6df33-90cf-4c79-bf0c-9f5bd762c16f	7a66b4e5-8f59-4d6e-b6dc-58884cf787ff	g.chr2:219268024T>A	ENST00000273062.2	+	6	877	c.541T>A	c.(541-543)Tgc>Agc	p.C181S	CTDSP1_ENST00000443891.1_Missense_Mutation_p.C180S|MIR26B_ENST00000362251.2_RNA|CTDSP1_ENST00000488627.1_3'UTR	NM_021198.2|NM_182642.2	NP_067021.1|NP_872580.1	Q9GZU7	CTDS1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 1	181	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.				negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|protein dephosphorylation (GO:0006470)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)			NS(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	8		Renal(207;0.0915)		Epithelial(149;9.96e-07)|all cancers(144;0.00017)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCGAGAGTCCTGCGTCTTCCA	0.632																																																0													56	65	62					2																	219268024		2203	4300	6503	SO:0001583	missense	58190			AF229162	CCDS2416.1, CCDS56166.1	2q35	2010-06-21			ENSG00000144579	ENSG00000144579		"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	21614	protein-coding gene	gene with protein product	"nuclear LIM interactor-interacting factor", "small CTD phosphatase 1"	605323				11950066, 12721286	Standard	NM_021198		Approved	NLIIF, SCP1	uc021vwv.1	Q9GZU7	OTTHUMG00000133109	ENST00000273062.2:c.541T>A	chr2.hg19:g.219268024T>A	ENSP00000273062:p.Cys181Ser		C9IYG0|Q7Z5Q3|Q7Z5Q4	Missense_Mutation	SNP	ENST00000273062.2	hg19	CCDS2416.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.013625	0.75161	.	.	ENSG00000144579	ENST00000443891;ENST00000273062	T;T	0.20463	2.07;2.07	4.64	3.45	0.39498	NLI interacting factor (3);Dullard phosphatase domain, eukaryotic (1);HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.56202	0.1969	H	0.96239	3.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.63829	-0.6548	10	0.87932	D	0	-31.262	9.6028	0.39615	0.1571:0.0:0.0:0.8429	.	181;180	Q9GZU7;C9IYG0	CTDS1_HUMAN;.	S	180;181	ENSP00000392248:C180S;ENSP00000273062:C181S	ENSP00000273062:C181S	C	+	1	0	CTDSP1	218976268	1.000000	0.71417	0.227000	0.23927	0.942000	0.58702	7.985000	0.88162	0.607000	0.29982	0.402000	0.26972	TGC		0.632	CTDSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256774.1	NM_182642, NM_021198		A	219268024	T	A	219268024	3	1	821	1	0	0	0	0	1	0	0	0	4005	1580	55	5	563	5	CTDSP1	2	219268024	Missense_Mutation	SNP	T	TCGA-Y8-A8RY-01A-11D-A36X-10	3447958	219268024	23931349	15	49379											
NBEAL2	23218	hgsc.bcm.edu	37	3	47038846	47038846	+	Missense_Mutation	SNP	C	C	T			TCGA-Y8-A8RY-01A-11D-A36X-10	TCGA-Y8-A8RY-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fbd6df33-90cf-4c79-bf0c-9f5bd762c16f	7a66b4e5-8f59-4d6e-b6dc-58884cf787ff	g.chr3:47038846C>T	ENST00000450053.3	+	19	2926	c.2747C>T	c.(2746-2748)aCg>aTg	p.T916M	NBEAL2_ENST00000292309.5_Missense_Mutation_p.T916M|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	916					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)		CCAGCTGAAACGCATGACCTC	0.577																																																0													44	49	47					3																	47038846		2046	4200	6246	SO:0001583	missense	23218			AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"WD repeat domain containing"	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.2747C>T	chr3.hg19:g.47038846C>T	ENSP00000415034:p.Thr916Met		O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	ENST00000450053.3	hg19	CCDS46817.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.77|12.77	2.036230|2.036230	0.35893|0.35893	.|.	.|.	ENSG00000160796|ENSG00000160796	ENST00000416683|ENST00000292309;ENST00000450053	.|T;T	.|0.58358	.|0.34;0.35	5.41|5.41	4.54|4.54	0.55810|0.55810	.|.	.|0.371656	.|0.27700	.|N	.|0.018211	T|T	0.51787|0.51787	0.1695|0.1695	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	.|P	.|0.52577	.|0.954	.|P	.|0.45276	.|0.475	T|T	0.56763|0.56763	-0.7925|-0.7925	5|10	.|0.56958	.|D	.|0.05	.|.	12.9387|12.9387	0.58329|0.58329	0.0:0.9216:0.0:0.0784|0.0:0.9216:0.0:0.0784	.|.	.|916	.|Q6ZNJ1	.|NBEL2_HUMAN	C|M	388|916	.|ENSP00000292309:T916M;ENSP00000415034:T916M	.|ENSP00000292309:T916M	R|T	+|+	1|2	0|0	NBEAL2|NBEAL2	47013850|47013850	0.988000|0.988000	0.35896|0.35896	0.202000|0.202000	0.23494|0.23494	0.028000|0.028000	0.11728|0.11728	2.750000|2.750000	0.47500|0.47500	1.521000|1.521000	0.48983|0.48983	0.561000|0.561000	0.74099|0.74099	CGC|ACG		0.577	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		T	47038846	C	T	47038846	3	4	821	1	0	0	0	0	1	0	0	0	10191	536	19	1	2821	1	NBEAL2	3	47038846	Missense_Mutation	SNP	C	TCGA-Y8-A8RY-01A-11D-A36X-10		47038846	150983584	16	49380											
COL6A5	256076	hgsc.bcm.edu	37	3	130120011	130120011	+	Frame_Shift_Del	DEL	G	G	-			TCGA-Y8-A8RY-01A-11D-A36X-10	TCGA-Y8-A8RY-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fbd6df33-90cf-4c79-bf0c-9f5bd762c16f	7a66b4e5-8f59-4d6e-b6dc-58884cf787ff	g.chr3:130120011delG	ENST00000432398.2	+	11	4622	c.4128delG	c.(4126-4128)cagfs	p.Q1376fs	COL6A5_ENST00000265379.6_Frame_Shift_Del_p.Q1376fs	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	1376	Nonhelical region.|VWFA 7. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular 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						AACTATCACAGTACCTGGTGA	0.388																																																0													113	98	103					3																	130120011		692	1591	2283	SO:0001589	frameshift_variant	256076			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"Collagens"	26674	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 4"	611916	"collagen, type XXIX, alpha 1"	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.4128delG	chr3.hg19:g.130120011delG	ENSP00000390895:p.Gln1376fs		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Frame_Shift_Del	DEL	ENST00000432398.2	hg19																																																																																					0.388	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264		-	130120011	G	-	130120011	7	5	821	1	0	1	0	1	0	0	0	0	3704	1020	36	0	4166	0	COL6A5	3	130120011	Frame_Shift_Del	DEL	G	TCGA-Y8-A8RY-01A-11D-A36X-10	83081165	130120011	67902419	17	49381											
BOD1L	259282	hgsc.bcm.edu	37	4	13616300	13616300	+	Missense_Mutation	SNP	T	T	C			TCGA-Y8-A8RY-01A-11D-A36X-10	TCGA-Y8-A8RY-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fbd6df33-90cf-4c79-bf0c-9f5bd762c16f	7a66b4e5-8f59-4d6e-b6dc-58884cf787ff	g.chr4:13616300T>C	ENST00000040738.5	-	4	829	c.694A>G	c.(694-696)Aga>Gga	p.R232G		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	232						nucleus (GO:0005634)	DNA binding (GO:0003677)										TTTGACGCTCTCTCACTGGTC	0.418																																																0													143	117	126					4																	13616300		2203	4300	6503	SO:0001583	missense	259282			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.694A>G	chr4.hg19:g.13616300T>C	ENSP00000040738:p.Arg232Gly		Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	hg19	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	T	15.15	2.748965	0.49257	.	.	ENSG00000038219	ENST00000040738	T	0.12255	2.7	5.74	4.54	0.55810	.	0.000000	0.53938	D	0.000052	T	0.30603	0.0770	M	0.62723	1.935	0.35742	D	0.818752	D	0.76494	0.999	D	0.64144	0.922	T	0.32295	-0.9912	10	0.40728	T	0.16	-13.193	12.9123	0.58187	0.0:0.0:0.1359:0.8641	.	232	Q8NFC6	BOD1L_HUMAN	G	232	ENSP00000040738:R232G	ENSP00000040738:R232G	R	-	1	2	BOD1L	13225398	1.000000	0.71417	0.997000	0.53966	0.164000	0.22412	4.222000	0.58580	0.967000	0.38186	0.477000	0.44152	AGA		0.418	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		C	13616300	T	C	13616300	3	2	821	1	0	0	0	0	1	0	0	0	1483	1559	54	3	8553	3	BOD1L	4	13616300	Missense_Mutation	SNP	T	TCGA-Y8-A8RY-01A-11D-A36X-10		13616300	177537976	18	49382											
COL25A1	84570	hgsc.bcm.edu	37	4	109861784	109861784	+	Missense_Mutation	SNP	C	C	G			TCGA-Y8-A8RY-01A-11D-A36X-10	TCGA-Y8-A8RY-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fbd6df33-90cf-4c79-bf0c-9f5bd762c16f	7a66b4e5-8f59-4d6e-b6dc-58884cf787ff	g.chr4:109861784C>G	ENST00000399132.1	-	10	1113	c.583G>C	c.(583-585)Ggg>Cgg	p.G195R	COL25A1_ENST00000399126.1_Missense_Mutation_p.G195R|COL25A1_ENST00000399127.1_Missense_Mutation_p.G191R	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)		CCTGGAGGCCCTGCCTGTCCT	0.562																																																0													51	52	52					4																	109861784		1883	4103	5986	SO:0001583	missense	84570			AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"Collagens"	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.583G>C	chr4.hg19:g.109861784C>G	ENSP00000382083:p.Gly195Arg			Missense_Mutation	SNP	ENST00000399132.1	hg19	CCDS43258.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.603104	0.66445	.	.	ENSG00000188517	ENST00000399132;ENST00000333642;ENST00000401873;ENST00000399127;ENST00000399126	D;D;D	0.98807	-5.15;-5.15;-5.15	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.99582	0.9849	H	0.98951	4.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.97654	1.0156	9	.	.	.	-3.9504	19.3339	0.94307	0.0:1.0:0.0:0.0	.	195;195	Q9BXS0-2;Q9BXS0	.;COPA1_HUMAN	R	195;197;191;191;195	ENSP00000382083:G195R;ENSP00000382078:G191R;ENSP00000382077:G195R	.	G	-	1	0	COL25A1	110081233	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	7.172000	0.77604	2.557000	0.86248	0.555000	0.69702	GGG		0.562	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2	NM_032518		G	109861784	C	G	109861784	3	3	821	1	0	0	0	0	1	0	0	0	3686	681	24	4	1581	4	COL25A1	4	109861784	Missense_Mutation	SNP	C	TCGA-Y8-A8RY-01A-11D-A36X-10	96245484	109861784	81292492	19	49383											
ADAD1	132612	hgsc.bcm.edu	37	4	123333812	123333812	+	Frame_Shift_Del	DEL	T	T	-			TCGA-Y8-A8RY-01A-11D-A36X-10	TCGA-Y8-A8RY-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fbd6df33-90cf-4c79-bf0c-9f5bd762c16f	7a66b4e5-8f59-4d6e-b6dc-58884cf787ff	g.chr4:123333812delT	ENST00000296513.2	+	10	1282	c.1097delT	c.(1096-1098)attfs	p.I366fs	ADAD1_ENST00000388725.2_Frame_Shift_Del_p.I348fs|ADAD1_ENST00000388724.2_Frame_Shift_Del_p.I355fs	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	366	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						GAAGGCAAAATTTATCTGACT	0.393																																																0													187	176	180					4																	123333812		2203	4300	6503	SO:0001589	frameshift_variant	132612			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.1097delT	chr4.hg19:g.123333812delT	ENSP00000296513:p.Ile366fs		A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Frame_Shift_Del	DEL	ENST00000296513.2	hg19	CCDS34058.1																																																																																				0.393	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316452.1	NM_139243		-	123333812	T	-	123333812	7	5	821	1	0	1	0	1	0	0	0	0	231	1493	52	0	1127	0	ADAD1	4	123333812	Frame_Shift_Del	DEL	T	TCGA-Y8-A8RY-01A-11D-A36X-10	13472028	123333812	67820464	20	49384											
ODZ3	55714	hgsc.bcm.edu	37	4	183674665	183674665	+	Missense_Mutation	SNP	G	G	A			TCGA-Y8-A8RY-01A-11D-A36X-10	TCGA-Y8-A8RY-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fbd6df33-90cf-4c79-bf0c-9f5bd762c16f	7a66b4e5-8f59-4d6e-b6dc-58884cf787ff	g.chr4:183674665G>A	ENST00000511685.1	+	21	4048	c.3925G>A	c.(3925-3927)Gac>Aac	p.D1309N	TENM3_ENST00000406950.2_Missense_Mutation_p.D1309N|TENM3_ENST00000502950.1_3'UTR			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1309					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)										TAGGAAAGTTGACCAAAATGG	0.373																																																0													113	112	112					4																	183674665		1915	4137	6052	SO:0001583	missense	55714			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.3925G>A	chr4.hg19:g.183674665G>A	ENSP00000424226:p.Asp1309Asn		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	hg19	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.688166	0.68271	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.91996	-2.95;-2.95	5.65	5.65	0.86999	Six-bladed beta-propeller, TolB-like (1);	.	.	.	.	D	0.96166	0.8750	M	0.78801	2.425	0.80722	D	1	D	0.63880	0.993	D	0.74674	0.984	D	0.95850	0.8874	9	0.72032	D	0.01	.	19.9142	0.97043	0.0:0.0:1.0:0.0	.	1309	Q9P273	TEN3_HUMAN	N	1309	ENSP00000424226:D1309N;ENSP00000385276:D1309N	ENSP00000385276:D1309N	D	+	1	0	ODZ3	183911659	1.000000	0.71417	0.998000	0.56505	0.235000	0.25334	9.657000	0.98554	2.941000	0.99782	0.655000	0.94253	GAC		0.373	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			A	183674665	G	A	183674665	3	1	821	1	0	0	0	0	1	0	0	0	10838	1290	45	2	4003	2	ODZ3	4	183674665	Missense_Mutation	SNP	G	TCGA-Y8-A8RY-01A-11D-A36X-10	60340853	183674665	7479611	21	49385											
ADAMTS6	11174	hgsc.bcm.edu	37	5	64510676	64510682	+	IGR	DEL	AACTTCA	AACTTCA	-			TCGA-Y8-A8RY-01A-11D-A36X-10	TCGA-Y8-A8RY-10A-01D-A370-10	AACTTCA	AACTTCA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fbd6df33-90cf-4c79-bf0c-9f5bd762c16f	7a66b4e5-8f59-4d6e-b6dc-58884cf787ff	g.chr5:64510676_64510682delAACTTCA								ADAMTS6 (16084 upstream) : ADAMTS6 (82352 downstream)																							ATGTAAAGCCAACTTCATTATCTCCAC	0.464																																																0																																										SO:0001628	intergenic_variant	11174																															chr5.hg19:g.64510676_64510682delAACTTCA				Frame_Shift_Del	DEL		hg19																																																																																				0	0.464									-	64510682	AACTTCA	-	64510676	6	5	821	0	1	1	0	1	0	0	0	0	270	117	5	0		0	ADAMTS6	5	64510676	IGR	DEL	AACTTCA	TCGA-Y8-A8RY-01A-11D-A36X-10		64510676	116404584	22	49386											
CHD1	1105	hgsc.bcm.edu	37	5	98235232	98235232	+	Missense_Mutation	SNP	A	A	T			TCGA-Y8-A8RY-01A-11D-A36X-10	TCGA-Y8-A8RY-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fbd6df33-90cf-4c79-bf0c-9f5bd762c16f	7a66b4e5-8f59-4d6e-b6dc-58884cf787ff	g.chr5:98235232A>T	ENST00000284049.3	-	7	1186	c.1037T>A	c.(1036-1038)aTg>aAg	p.M346K		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	346	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				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)	CAATTTTTTCATTCCTCTAAC	0.323																																																0													112	124	120					5																	98235232		2203	4300	6503	SO:0001583	missense	1105			AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.1037T>A	chr5.hg19:g.98235232A>T	ENSP00000284049:p.Met346Lys		Q17RZ3	Missense_Mutation	SNP	ENST00000284049.3	hg19	CCDS34204.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.814508	0.90790	.	.	ENSG00000153922	ENST00000284049	T	0.70631	-0.5	5.74	5.74	0.90152	Chromo domain (1);Chromo domain-like (1);Chromo domain/shadow (2);	0.000000	0.40469	U	0.001094	T	0.74733	0.3755	L	0.42529	1.33	0.80722	D	1	D	0.54772	0.968	P	0.54060	0.741	T	0.77778	-0.2460	10	0.87932	D	0	.	16.0292	0.80564	1.0:0.0:0.0:0.0	.	346	O14646	CHD1_HUMAN	K	346	ENSP00000284049:M346K	ENSP00000284049:M346K	M	-	2	0	CHD1	98263132	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.962000	0.93254	2.187000	0.69744	0.533000	0.62120	ATG		0.323	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270		T	98235232	A	T	98235232	3	4	821	1	0	0	0	0	1	0	0	0	3325	217	8	5	4211	5	CHD1	5	98235232	Missense_Mutation	SNP	A	TCGA-Y8-A8RY-01A-11D-A36X-10	33724556	98235232	82680028	23	49387											
SHROOM1	134549	hgsc.bcm.edu	37	5	132160915	132160915	+	Missense_Mutation	SNP	G	G	T			TCGA-Y8-A8RY-01A-11D-A36X-10	TCGA-Y8-A8RY-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fbd6df33-90cf-4c79-bf0c-9f5bd762c16f	7a66b4e5-8f59-4d6e-b6dc-58884cf787ff	g.chr5:132160915G>T	ENST00000378679.3	-	4	1722	c.918C>A	c.(916-918)agC>agA	p.S306R	SHROOM1_ENST00000378676.1_Missense_Mutation_p.S306R|SHROOM1_ENST00000319854.3_Missense_Mutation_p.S306R|SHROOM1_ENST00000488072.1_5'Flank	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	306					actin filament bundle assembly (GO:0051017)|cell morphogenesis (GO:0000902)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|myosin II complex (GO:0016460)	actin filament binding (GO:0051015)			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CGCCTGAAGCGCTCCGACTCC	0.617																																																0													37	41	40					5																	132160915		2203	4300	6503	SO:0001583	missense	134549			AF314142	CCDS4161.1, CCDS54902.1	5q31.1	2007-05-03			ENSG00000164403	ENSG00000164403			24084	protein-coding gene	gene with protein product		611179				11853319, 16615870	Standard	NM_133456		Approved	APXL2, KIAA1960	uc003kxy.2	Q2M3G4	OTTHUMG00000059835	ENST00000378679.3:c.918C>A	chr5.hg19:g.132160915G>T	ENSP00000367950:p.Ser306Arg		B7WP40|B7ZL01|Q8TDP0|Q8TF41	Missense_Mutation	SNP	ENST00000378679.3	hg19	CCDS54902.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.154073	0.57259	.	.	ENSG00000164403	ENST00000378679;ENST00000319854;ENST00000378676;ENST00000440118	T;T;T;T	0.23950	1.88;1.88;1.88;1.88	4.7	-1.49	0.08718	.	0.564112	0.19160	N	0.121214	T	0.32224	0.0822	L	0.32530	0.975	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.98	T	0.13818	-1.0495	10	0.59425	D	0.04	-17.2468	8.5248	0.33298	0.6377:0.0:0.3623:0.0	.	306;306	Q2M3G4-2;Q2M3G4	.;SHRM1_HUMAN	R	306	ENSP00000367950:S306R;ENSP00000324245:S306R;ENSP00000367947:S306R;ENSP00000388049:S306R	ENSP00000324245:S306R	S	-	3	2	SHROOM1	132188814	0.000000	0.05858	0.064000	0.19789	0.026000	0.11368	-0.578000	0.05841	-0.211000	0.10124	0.561000	0.74099	AGC		0.617	SHROOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133033.1	NM_133456		T	132160915	G	T	132160915	3	4	821	1	0	0	0	0	1	0	0	0	14299	1078	38	4	1668	4	SHROOM1	5	132160915	Missense_Mutation	SNP	G	TCGA-Y8-A8RY-01A-11D-A36X-10	33925683	132160915	48754345	24	49388											
TMEM173	340061	hgsc.bcm.edu	37	5	138856029	138856029	+	Missense_Mutation	SNP	A	A	C			TCGA-Y8-A8RY-01A-11D-A36X-10	TCGA-Y8-A8RY-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fbd6df33-90cf-4c79-bf0c-9f5bd762c16f	7a66b4e5-8f59-4d6e-b6dc-58884cf787ff	g.chr5:138856029A>C	ENST00000330794.4	-	8	1290	c.957T>G	c.(955-957)gaT>gaG	p.D319E	TMEM173_ENST00000511850.1_5'Flank	NM_198282.2	NP_938023.1	Q86WV6	STING_HUMAN	transmembrane protein 173	319	c-di-GMP-binding domain (CBD).				activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of transcription factor import into nucleus (GO:0042993)|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)	cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	cyclic-di-GMP binding (GO:0035438)|cyclic-GMP-AMP binding (GO:0061507)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|lung(6)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AGCTGCTGTCATCTGCAGGTT	0.542																																																0													49	48	48					5																	138856029		2203	4300	6503	SO:0001583	missense	340061				CCDS4215.1	5q31.2	2009-11-06			ENSG00000184584	ENSG00000184584			27962	protein-coding gene	gene with protein product		612374				12477932	Standard	XM_005268445		Approved	FLJ38577, NET23	uc003lep.3	Q86WV6	OTTHUMG00000129239	ENST00000330794.4:c.957T>G	chr5.hg19:g.138856029A>C	ENSP00000331288:p.Asp319Glu		A8K3P6|B6EB35|D6RBX0|D6RE01|D6RID9	Missense_Mutation	SNP	ENST00000330794.4	hg19	CCDS4215.1	.	.	.	.	.	.	.	.	.	.	A	0.011	-1.696860	0.00725	.	.	ENSG00000184584	ENST00000330794	T	0.19938	2.11	5.19	-4.23	0.03789	.	0.353151	0.28135	N	0.016478	T	0.06872	0.0175	N	0.14661	0.345	0.19300	N	0.999972	B	0.06786	0.001	B	0.08055	0.003	T	0.35773	-0.9775	10	0.08179	T	0.78	-5.2849	4.5484	0.12092	0.4244:0.2109:0.2966:0.0681	.	319	Q86WV6	TM173_HUMAN	E	319	ENSP00000331288:D319E	ENSP00000331288:D319E	D	-	3	2	TMEM173	138836213	0.000000	0.05858	0.474000	0.27266	0.039000	0.13416	-0.774000	0.04684	-0.365000	0.08076	-0.648000	0.03929	GAT		0.542	TMEM173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251338.1	NM_198282		C	138856029	A	C	138856029	3	2	821	1	0	0	0	0	1	0	0	0	16094	214	8	5	186	5	TMEM173	5	138856029	Missense_Mutation	SNP	A	TCGA-Y8-A8RY-01A-11D-A36X-10	6695114	138856029	42059231	25	49389											
FGFR4	2264	hgsc.bcm.edu	37	5	176523128	176523128	+	Missense_Mutation	SNP	T	T	C			TCGA-Y8-A8RY-01A-11D-A36X-10	TCGA-Y8-A8RY-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fbd6df33-90cf-4c79-bf0c-9f5bd762c16f	7a66b4e5-8f59-4d6e-b6dc-58884cf787ff	g.chr5:176523128T>C	ENST00000292408.4	+	14	2137	c.1892T>C	c.(1891-1893)tTt>tCt	p.F631S	FGFR4_ENST00000393637.1_Missense_Mutation_p.F591S|FGFR4_ENST00000292410.3_Missense_Mutation_p.F591S|FGFR4_ENST00000502906.1_Missense_Mutation_p.F631S|FGFR4_ENST00000393648.2_Missense_Mutation_p.F563S	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	631	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)	ATTGCTGACTTTGGGCTGGCC	0.607										TSP Lung(9;0.080)																																						0													60	58	59					5																	176523128		2203	4300	6503	SO:0001583	missense	2264			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.1892T>C	chr5.hg19:g.176523128T>C	ENSP00000292408:p.Phe631Ser		G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Missense_Mutation	SNP	ENST00000292408.4	hg19	CCDS4410.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.367713	0.82463	.	.	ENSG00000160867	ENST00000292408;ENST00000393648;ENST00000502906;ENST00000292410;ENST00000393637;ENST00000377207	D;D;D;D;D	0.96830	-4.14;-4.14;-4.14;-4.14;-4.14	4.66	4.66	0.58398	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	0.98915	0.9632	H	0.98701	4.305	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	0.99084	1.0838	10	0.87932	D	0	.	13.7959	0.63171	0.0:0.0:0.0:1.0	.	563;591;631	B4DVP5;P22455-2;P22455	.;.;FGFR4_HUMAN	S	631;563;631;591;591;859	ENSP00000292408:F631S;ENSP00000377259:F563S;ENSP00000424960:F631S;ENSP00000292410:F591S;ENSP00000377254:F591S	ENSP00000292408:F631S	F	+	2	0	FGFR4	176455734	1.000000	0.71417	0.998000	0.56505	0.776000	0.43924	8.040000	0.89188	1.745000	0.51790	0.459000	0.35465	TTT		0.607	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253410.1			C	176523128	T	C	176523128	3	2	821	1	0	0	0	0	1	0	0	0	5870	1841	64	3	2012	3	FGFR4	5	176523128	Missense_Mutation	SNP	T	TCGA-Y8-A8RY-01A-11D-A36X-10	37667099	176523128	4392132	26	49390											
GFPT2	9945	hgsc.bcm.edu	37	5	179743359	179743359	+	Missense_Mutation	SNP	A	A	G			TCGA-Y8-A8RY-01A-11D-A36X-10	TCGA-Y8-A8RY-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fbd6df33-90cf-4c79-bf0c-9f5bd762c16f	7a66b4e5-8f59-4d6e-b6dc-58884cf787ff	g.chr5:179743359A>G	ENST00000253778.8	-	13	1424	c.1255T>C	c.(1255-1257)Ttt>Ctt	p.F419L	GFPT2_ENST00000520165.1_5'Flank	NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	419	SIS 1. {ECO:0000255|PROSITE- ProRule:PRU00797}.				carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glutamine metabolic process (GO:0006541)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	CTGATGAAAAAGCAAACGTCA	0.502																																																0													76	79	78					5																	179743359		2106	4233	6339	SO:0001583	missense	9945			AB016789	CCDS43411.1	5q	2008-07-18			ENSG00000131459	ENSG00000131459			4242	protein-coding gene	gene with protein product	"glutamine: fructose-6-phosphate aminotransferase 2"	603865				10198162	Standard	NM_005110		Approved	GFAT2	uc003mlw.1	O94808	OTTHUMG00000163442	ENST00000253778.8:c.1255T>C	chr5.hg19:g.179743359A>G	ENSP00000253778:p.Phe419Leu		Q53XM2|Q9BWS4	Missense_Mutation	SNP	ENST00000253778.8	hg19	CCDS43411.1	.	.	.	.	.	.	.	.	.	.	A	28.5	4.929944	0.92389	.	.	ENSG00000131459	ENST00000253778	T	0.61274	0.12	5.89	5.89	0.94794	Sugar isomerase (SIS) (2);	0.000000	0.85682	D	0.000000	T	0.48059	0.1479	N	0.11284	0.12	0.80722	D	1	P	0.41159	0.74	P	0.47645	0.553	T	0.47355	-0.9124	9	.	.	.	-22.0601	16.3123	0.82883	1.0:0.0:0.0:0.0	.	419	O94808	GFPT2_HUMAN	L	419	ENSP00000253778:F419L	.	F	-	1	0	GFPT2	179675965	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.157000	0.94714	2.254000	0.74563	0.459000	0.35465	TTT		0.502	GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373444.4	NM_005110		G	179743359	A	G	179743359	3	3	821	1	0	0	0	0	1	0	0	0	6348	72	3	3	821	3	GFPT2	5	179743359	Missense_Mutation	SNP	A	TCGA-Y8-A8RY-01A-11D-A36X-10	3220231	179743359	1171901	27	49391											
ATXN1	6310	hgsc.bcm.edu	37	6	16327864	16327864	+	Missense_Mutation	SNP	G	G	C			TCGA-Y8-A8RY-01A-11D-A36X-10	TCGA-Y8-A8RY-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fbd6df33-90cf-4c79-bf0c-9f5bd762c16f	7a66b4e5-8f59-4d6e-b6dc-58884cf787ff	g.chr6:16327864G>C	ENST00000244769.4	-	8	1614	c.678C>G	c.(676-678)caC>caG	p.H226Q	ATXN1_ENST00000436367.1_Missense_Mutation_p.H226Q	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	226					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)				CCCTGCTGAGGtgctgctgct	0.652																																																0													11	15	13					6																	16327864		2150	4194	6344	SO:0001583	missense	6310			X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"Ataxins"	10548	protein-coding gene	gene with protein product		601556	"spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.678C>G	chr6.hg19:g.16327864G>C	ENSP00000244769:p.His226Gln		Q17S02|Q9UJG2|Q9Y4J1	Missense_Mutation	SNP	ENST00000244769.4	hg19	CCDS34342.1	.	.	.	.	.	.	.	.	.	.	G	1.926	-0.447046	0.04572	.	.	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	T;T	0.27256	1.68;1.68	4.74	0.503	0.16940	.	0.308295	0.34291	N	0.004091	T	0.05686	0.0149	L	0.39397	1.21	0.09310	N	0.999995	B	0.32245	0.361	B	0.28638	0.092	T	0.23976	-1.0173	10	0.48119	T	0.1	-16.8942	3.2876	0.06937	0.3032:0.0:0.385:0.3119	.	226	P54253	ATX1_HUMAN	Q	226	ENSP00000244769:H226Q;ENSP00000416360:H226Q	ENSP00000244769:H226Q	H	-	3	2	ATXN1	16435843	0.437000	0.25593	0.006000	0.13384	0.009000	0.06853	0.925000	0.28791	0.191000	0.20236	0.563000	0.77884	CAC		0.652	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		C	16327864	G	C	16327864	3	2	821	1	0	0	0	0	1	0	0	0	1209	1252	44	4	1777	4	ATXN1	6	16327864	Missense_Mutation	SNP	G	TCGA-Y8-A8RY-01A-11D-A36X-10		16327864	154787203	28	49392											
HIST1H2AH	85235	hgsc.bcm.edu	37	6	27115069	27115069	+	Silent	SNP	G	G	A	rs7756481	byFrequency	TCGA-Y8-A8RY-01A-11D-A36X-10	TCGA-Y8-A8RY-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fbd6df33-90cf-4c79-bf0c-9f5bd762c16f	7a66b4e5-8f59-4d6e-b6dc-58884cf787ff	g.chr6:27115069G>A	ENST00000377459.1	+	1	209	c.162G>A	c.(160-162)gcG>gcA	p.A54A	MIR3143_ENST00000584253.1_RNA|HIST1H2BK_ENST00000356950.1_5'Flank|HIST1H2BK_ENST00000396891.4_5'Flank	NM_080596.1	NP_542163.1	Q96KK5	H2A1H_HUMAN	histone cluster 1, H2ah	54						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|prostate(1)|skin(1)	12						ACCTGGCTGCGGTGCTGGAGT	0.657																																																0													52	53	53					6																	27115069		2203	4300	6503	SO:0001819	synonymous_variant	85235			AY131988	CCDS4622.1	6p22.1	2011-01-27	2006-10-11			ENSG00000274997		"Histones / Replication-dependent"	13671	protein-coding gene	gene with protein product		615013	"histone 1, H2ah"			12408966	Standard	NM_080596		Approved	H2AFALii, dJ86C11.1, H2A/S	uc003niz.4	Q96KK5		ENST00000377459.1:c.162G>A	chr6.hg19:g.27115069G>A				Silent	SNP	ENST00000377459.1	hg19	CCDS4622.1																																																																																				0.657	HIST1H2AH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040136.1	NM_080596		A	27115069	G	A	27115069	2	1	821	1	0	0	0	0	0	0	0	1	7136	1103	39	1		1	HIST1H2AH	6	27115069	Silent	SNP	G	TCGA-Y8-A8RY-01A-11D-A36X-10	10787205	27115069	143999998	29	49393											
PHF3	23469	hgsc.bcm.edu	37	6	64404652	64404653	+	Frame_Shift_Ins	INS	-	-	AGGT			TCGA-Y8-A8RY-01A-11D-A36X-10	TCGA-Y8-A8RY-10A-01D-A370-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fbd6df33-90cf-4c79-bf0c-9f5bd762c16f	7a66b4e5-8f59-4d6e-b6dc-58884cf787ff	g.chr6:64404652_64404653insAGGT	ENST00000262043.3	+	6	3018_3019	c.2678_2679insAGGT	c.(2677-2682)ccaggtfs	p.-894fs	PHF3_ENST00000393387.1_Frame_Shift_Ins_p.-894fs			Q92576	PHF3_HUMAN	PHD finger protein 3						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)			GCTTCAAAACCAGGTAGTGAGA	0.292																																					GBM(135;136 1820 29512 34071 46235)											0																																										SO:0001589	frameshift_variant	23469			AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"Zinc fingers, PHD-type"	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.2679_2682dupAGGT	chr6.hg19:g.64404653_64404656dupAGGT	ENSP00000262043:p.Gly894fs		A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Frame_Shift_Ins	INS	ENST00000262043.3	hg19	CCDS4966.1																																																																																				0.292	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			AGGT	64404653	-	AGGT	64404652	7	5	821	1	0	1	1	0	0	0	0	0	11838	594	21	0	2696	0	PHF3	6	64404652	Frame_Shift_Ins	INS	-	TCGA-Y8-A8RY-01A-11D-A36X-10	37289583	64404652	106710415	30	49394											
BEND3	57673	hgsc.bcm.edu	37	6	107390745	107390745	+	Silent	SNP	A	A	G			TCGA-Y8-A8RY-01A-11D-A36X-10	TCGA-Y8-A8RY-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fbd6df33-90cf-4c79-bf0c-9f5bd762c16f	7a66b4e5-8f59-4d6e-b6dc-58884cf787ff	g.chr6:107390745A>G	ENST00000369042.1	-	4	1840	c.1650T>C	c.(1648-1650)ggT>ggC	p.G550G	BEND3_ENST00000429433.2_Silent_p.G550G			Q5T5X7	BEND3_HUMAN	BEN domain containing 3	550	BEN 3. {ECO:0000255|PROSITE- ProRule:PRU00784}.									central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						GGCAGTCGGCACCGGGCACCT	0.647																																																0													33	32	32					6																	107390745		2203	4300	6503	SO:0001819	synonymous_variant	57673			AB046773	CCDS34507.1	6q21	2012-11-22	2008-10-03	2008-10-03	ENSG00000178409	ENSG00000178409		"BEN domain containing"	23040	protein-coding gene	gene with protein product			"KIAA1553"	KIAA1553			Standard	NM_001080450		Approved		uc003prs.2	Q5T5X7	OTTHUMG00000015308	ENST00000369042.1:c.1650T>C	chr6.hg19:g.107390745A>G			A2RRH2|Q9HCL9	Silent	SNP	ENST00000369042.1	hg19	CCDS34507.1																																																																																				0.647	BEND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041686.1	NM_020913		G	107390745	A	G	107390745	2	3	821	1	0	0	0	0	0	0	0	1	1399	146	6	3		3	BEND3	6	107390745	Silent	SNP	A	TCGA-Y8-A8RY-01A-11D-A36X-10	42986093	107390745	63724322	31	49395											
TTYH3	80727	hgsc.bcm.edu	37	7	2686778	2686778	+	Frame_Shift_Del	DEL	C	C	-			TCGA-Y8-A8RY-01A-11D-A36X-10	TCGA-Y8-A8RY-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fbd6df33-90cf-4c79-bf0c-9f5bd762c16f	7a66b4e5-8f59-4d6e-b6dc-58884cf787ff	g.chr7:2686778delC	ENST00000258796.7	+	3	501	c.296delC	c.(295-297)gccfs	p.A99fs	TTYH3_ENST00000403167.1_5'Flank|TTYH3_ENST00000407643.1_Frame_Shift_Del_p.A99fs	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	99					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)		CTCTCCAGCGCCGGCATCGCA	0.731																																																0													13	16	15					7																	2686778		2173	4284	6457	SO:0001589	frameshift_variant	80727				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.296delC	chr7.hg19:g.2686778delC	ENSP00000258796:p.Ala99fs		A4D201|B7WP98|Q6L749|Q6ZVG3|Q8TEG6	Frame_Shift_Del	DEL	ENST00000258796.7	hg19	CCDS34588.1																																																																																				0.731	TTYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325082.2	XM_166523		-	2686778	C	-	2686778	7	5	821	1	0	1	0	1	0	0	0	0	16746	739	26	0	306	0	TTYH3	7	2686778	Frame_Shift_Del	DEL	C	TCGA-Y8-A8RY-01A-11D-A36X-10		2686778	156451885	32	49396											
ZSCAN21	7589	hgsc.bcm.edu	37	7	99661446	99661446	+	Missense_Mutation	SNP	G	G	T			TCGA-Y8-A8RY-01A-11D-A36X-10	TCGA-Y8-A8RY-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fbd6df33-90cf-4c79-bf0c-9f5bd762c16f	7a66b4e5-8f59-4d6e-b6dc-58884cf787ff	g.chr7:99661446G>T	ENST00000292450.4	+	4	792	c.628G>T	c.(628-630)Gat>Tat	p.D210Y	ZSCAN21_ENST00000456748.2_Missense_Mutation_p.D210Y|ZSCAN21_ENST00000477297.1_Intron|ZSCAN21_ENST00000543588.1_Missense_Mutation_p.D210Y	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	210					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)			GGAATCAGCAGATGAGCAGAA	0.433																																																0													89	91	90					7																	99661446		2203	4300	6503	SO:0001583	missense	7589			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.628G>T	chr7.hg19:g.99661446G>T	ENSP00000292450:p.Asp210Tyr		A4D2A6|D6W5T9|Q9H0B5	Missense_Mutation	SNP	ENST00000292450.4	hg19	CCDS5681.1	.	.	.	.	.	.	.	.	.	.	G	11.29	1.593776	0.28445	.	.	ENSG00000166529	ENST00000543588;ENST00000292450;ENST00000456748;ENST00000379635	T;T;T	0.05925	4.04;3.37;4.04	4.79	2.91	0.33838	.	0.353172	0.20787	N	0.085686	T	0.11196	0.0273	L	0.29908	0.895	0.27965	N	0.936625	P;D	0.76494	0.454;0.999	B;D	0.68943	0.259;0.961	T	0.03630	-1.1018	10	0.66056	D	0.02	.	5.8826	0.18864	0.1063:0.2119:0.6818:0.0	.	210;210	Q9Y5A6;G3V1M0	ZSC21_HUMAN;.	Y	210;210;210;185	ENSP00000441212:D210Y;ENSP00000292450:D210Y;ENSP00000390960:D210Y	ENSP00000292450:D210Y	D	+	1	0	ZSCAN21	99499382	0.175000	0.23083	1.000000	0.80357	0.157000	0.22087	0.687000	0.25407	1.249000	0.43950	-0.140000	0.14226	GAT		0.433	ZSCAN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336166.1	NM_145914		T	99661446	G	T	99661446	3	4	821	1	0	0	0	0	1	0	0	0	18238	942	33	4	638	4	ZSCAN21	7	99661446	Missense_Mutation	SNP	G	TCGA-Y8-A8RY-01A-11D-A36X-10	96974668	99661446	59477217	33	49397											
BRAF	673	hgsc.bcm.edu	37	7	140507811	140507811	+	Silent	SNP	T	T	C			TCGA-Y8-A8RY-01A-11D-A36X-10	TCGA-Y8-A8RY-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fbd6df33-90cf-4c79-bf0c-9f5bd762c16f	7a66b4e5-8f59-4d6e-b6dc-58884cf787ff	g.chr7:140507811T>C	ENST00000288602.6	-	5	720	c.660A>G	c.(658-660)gaA>gaG	p.E220E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	220	RBD. {ECO:0000255|PROSITE- ProRule:PRU00262}.				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)	CATGCAATTCTTCTCCAGTAA	0.328		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)		Dom	yes		7	7q34	673	v-raf murine sarcoma viral oncogene homolog B1	yes	E	0													153	134	140					7																	140507811		2203	4300	6503	SO:0001819	synonymous_variant	673	Familial Cancer Database	CFC, CFCS	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.660A>G	chr7.hg19:g.140507811T>C			A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Silent	SNP	ENST00000288602.6	hg19	CCDS5863.1																																																																																				0.328	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		C	140507811	T	C	140507811	2	2	821	1	0	0	0	0	0	0	0	1	1498	1606	56	3		3	BRAF	7	140507811	Silent	SNP	T	TCGA-Y8-A8RY-01A-11D-A36X-10	40846365	140507811	18630852	34	49398											
DUSP4	1846	hgsc.bcm.edu	37	8	29197704	29197704	+	Silent	SNP	G	G	A			TCGA-Y8-A8RY-01A-11D-A36X-10	TCGA-Y8-A8RY-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fbd6df33-90cf-4c79-bf0c-9f5bd762c16f	7a66b4e5-8f59-4d6e-b6dc-58884cf787ff	g.chr8:29197704G>A	ENST00000240100.2	-	2	879	c.490C>T	c.(490-492)Ctg>Ttg	p.L164L	DUSP4_ENST00000240101.2_Silent_p.L73L	NM_001394.6	NP_001385.1	Q13115	DUS4_HUMAN	dual specificity phosphatase 4	164					endoderm formation (GO:0001706)|innate immune response (GO:0045087)|MAPK cascade (GO:0000165)|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)|protein dephosphorylation (GO:0006470)|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)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|protein tyrosine/threonine phosphatase activity (GO:0008330)			endometrium(1)|large_intestine(1)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)		ATGGCTGCCAGGGCCTTGGTT	0.582											OREG0018686	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													22	28	26					8																	29197704		2203	4300	6503	SO:0001819	synonymous_variant	1846			U21108	CCDS6072.1, CCDS6073.1	8p12-p11	2011-06-09			ENSG00000120875	ENSG00000120875		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3070	protein-coding gene	gene with protein product	"VH1 homologous phosphatase 2", "MAP kinase phosphatase 2"	602747				7535768, 9205128	Standard	NM_001394		Approved	HVH2, MKP-2, TYP	uc003xhm.3	Q13115	OTTHUMG00000133395	ENST00000240100.2:c.490C>T	chr8.hg19:g.29197704G>A		807	B2RBU5|D3DSU4|G5E930|Q13524	Silent	SNP	ENST00000240100.2	hg19	CCDS6072.1																																																																																				0.582	DUSP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257249.1	NM_001394		A	29197704	G	A	29197704	2	1	821	1	0	0	0	0	0	0	0	1	4829	991	35	2		2	DUSP4	8	29197704	Silent	SNP	G	TCGA-Y8-A8RY-01A-11D-A36X-10		29197704	117166318	35	49399											
NCOA2	10499	hgsc.bcm.edu	37	8	71068654	71068654	+	Frame_Shift_Del	DEL	G	G	-			TCGA-Y8-A8RY-01A-11D-A36X-10	TCGA-Y8-A8RY-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fbd6df33-90cf-4c79-bf0c-9f5bd762c16f	7a66b4e5-8f59-4d6e-b6dc-58884cf787ff	g.chr8:71068654delG	ENST00000452400.2	-	11	2127	c.1946delC	c.(1945-1947)tctfs	p.S649fs	NCOA2_ENST00000524223.1_5'UTR	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	649					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)			CATCTGATCAGATTTGGTGGT	0.567			T	"RUNXBP2, HEY1"	"AML, Chondrosarcoma"																																		Dom	yes		8	8q13.1	10499	nuclear receptor coactivator 2 (TIF2)		L	0													93	92	92					8																	71068654		2000	4181	6181	SO:0001589	frameshift_variant	10499			X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.1946delC	chr8.hg19:g.71068654delG	ENSP00000399968:p.Ser649fs		Q14CD2	Frame_Shift_Del	DEL	ENST00000452400.2	hg19	CCDS47872.1																																																																																				0.567	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1			-	71068654	G	-	71068654	7	5	821	1	0	1	0	1	0	0	0	0	10231	942	33	0	2500	0	NCOA2	8	71068654	Frame_Shift_Del	DEL	G	TCGA-Y8-A8RY-01A-11D-A36X-10	41870950	71068654	75295368	36	49400											
VPS13B	157680	hgsc.bcm.edu	37	8	100836128	100836128	+	Silent	SNP	T	T	C			TCGA-Y8-A8RY-01A-11D-A36X-10	TCGA-Y8-A8RY-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fbd6df33-90cf-4c79-bf0c-9f5bd762c16f	7a66b4e5-8f59-4d6e-b6dc-58884cf787ff	g.chr8:100836128T>C	ENST00000358544.2	+	51	9438	c.9327T>C	c.(9325-9327)acT>acC	p.T3109T	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.T3084T	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3109					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)			AAGACAAGACTACAATAATCA	0.323																																					Colon(161;2205 2542 7338 31318)											0													161	166	165					8																	100836128		2203	4297	6500	SO:0001819	synonymous_variant	157680			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"Cohen syndrome 1"	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.9327T>C	chr8.hg19:g.100836128T>C			C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	ENST00000358544.2	hg19	CCDS6280.1																																																																																				0.323	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		C	100836128	T	C	100836128	2	2	821	1	0	0	0	0	0	0	0	1	17195	1509	53	3		3	VPS13B	8	100836128	Silent	SNP	T	TCGA-Y8-A8RY-01A-11D-A36X-10	29767474	100836128	45527894	37	49401											
GPSM1	26086	hgsc.bcm.edu	37	9	139231429	139231429	+	Missense_Mutation	SNP	G	G	T			TCGA-Y8-A8RY-01A-11D-A36X-10	TCGA-Y8-A8RY-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fbd6df33-90cf-4c79-bf0c-9f5bd762c16f	7a66b4e5-8f59-4d6e-b6dc-58884cf787ff	g.chr9:139231429G>T	ENST00000440944.1	+	4	698	c.478G>T	c.(478-480)Ggc>Tgc	p.G160C	GPSM1_ENST00000392945.3_Missense_Mutation_p.G160C	NM_001145638.1	NP_001139110	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1	160	Mediates association with membranes. {ECO:0000250}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GDP-dissociation inhibitor activity (GO:0005092)			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		CCACGCCAAAGGCAAGCAACT	0.662																																																0													61	50	54					9																	139231429		2163	4259	6422	SO:0001583	missense	26086			AI272212	CCDS6996.2, CCDS48055.1, CCDS48056.1	9q34.3	2013-01-10	2010-06-24		ENSG00000160360	ENSG00000160360		"Tetratricopeptide (TTC) repeat domain containing"	17858	protein-coding gene	gene with protein product	"AGS3 homolog (C. elegans)"	609491	"G-protein signalling modulator 1 (AGS3-like, C. elegans)"			11278352, 10969064	Standard	NM_001145639		Approved	AGS3, DKFZP727I051	uc004chd.2	Q86YR5	OTTHUMG00000020930	ENST00000440944.1:c.478G>T	chr9.hg19:g.139231429G>T	ENSP00000392828:p.Gly160Cys		A9Z1X4|B1B0W3|Q86SR5|Q969T1|Q9UFS8	Missense_Mutation	SNP	ENST00000440944.1	hg19	CCDS48055.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.802739	0.90623	.	.	ENSG00000160360	ENST00000392945;ENST00000440944;ENST00000354753	D;D;D	0.97016	-4.21;-4.21;-4.21	3.94	3.94	0.45596	Tetratricopeptide-like helical (1);	0.135266	0.48767	U	0.000165	D	0.98845	0.9610	H	0.98027	4.13	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99346	1.0913	10	0.87932	D	0	-36.4254	15.833	0.78773	0.0:0.0:1.0:0.0	.	160;160	Q86YR5;Q86YR5-3	GPSM1_HUMAN;.	C	160;160;137	ENSP00000376674:G160C;ENSP00000392828:G160C;ENSP00000346797:G137C	ENSP00000346797:G137C	G	+	1	0	GPSM1	138351250	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.573000	0.98181	2.122000	0.65172	0.563000	0.77884	GGC		0.662	GPSM1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015597		T	139231429	G	T	139231429	3	4	821	1	0	0	0	0	1	0	0	0	6736	1000	35	4	492	4	GPSM1	9	139231429	Missense_Mutation	SNP	G	TCGA-Y8-A8RY-01A-11D-A36X-10		139231429	1982002	38	49402											
ANKRD16	54522	hgsc.bcm.edu	37	10	5922267	5922267	+	Nonsense_Mutation	SNP	G	G	A			TCGA-Y8-A8RY-01A-11D-A36X-10	TCGA-Y8-A8RY-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fbd6df33-90cf-4c79-bf0c-9f5bd762c16f	7a66b4e5-8f59-4d6e-b6dc-58884cf787ff	g.chr10:5922267G>A	ENST00000380094.5	-	6	1465	c.922C>T	c.(922-924)Cga>Tga	p.R308*	ANKRD16_ENST00000191063.8_Intron|ANKRD16_ENST00000380092.4_Nonsense_Mutation_p.R308*	NM_019046.2	NP_061919.1	Q6P6B7	ANR16_HUMAN	ankyrin repeat domain 16	308								p.R308*(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(3)|stomach(2)	12						GTACCTGATCGATTTTTTTCA	0.294																																																1	Substitution - Nonsense(1)	large_intestine(1)											77	75	76					10																	5922267		2203	4300	6503	SO:0001587	stop_gained	54522			AL137614	CCDS31136.1, CCDS31137.1	10p15.1	2013-01-10			ENSG00000134461	ENSG00000134461		"Ankyrin repeat domain containing"	23471	protein-coding gene	gene with protein product							Standard	NM_019046		Approved	DKFZP434N1511	uc010qat.2	Q6P6B7	OTTHUMG00000017610	ENST00000380094.5:c.922C>T	chr10.hg19:g.5922267G>A	ENSP00000369436:p.Arg308*		A6NEF0|F8WEI4|Q9NT01	Nonsense_Mutation	SNP	ENST00000380094.5	hg19	CCDS31136.1	.	.	.	.	.	.	.	.	.	.	G	40	8.179958	0.98693	.	.	ENSG00000134461	ENST00000380094;ENST00000380092	.	.	.	4.41	4.41	0.53225	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	-5.1798	10.9767	0.47469	0.0:0.0:0.813:0.187	.	.	.	.	X	308	.	ENSP00000369434:R308X	R	-	1	2	ANKRD16	5962273	1.000000	0.71417	1.000000	0.80357	0.754000	0.42855	3.339000	0.52135	2.023000	0.59567	0.478000	0.44815	CGA		0.294	ANKRD16-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046611.2	XM_166138		A	5922267	G	A	5922267	4	1	821	1	0	0	0	0	0	1	0	0	645	1066	37	1	171	1	ANKRD16	10	5922267	Nonsense_Mutation	SNP	G	TCGA-Y8-A8RY-01A-11D-A36X-10		5922267	129612480	39	49403											
KNDC1	85442	hgsc.bcm.edu	37	10	135012281	135012281	+	Missense_Mutation	SNP	G	G	A			TCGA-Y8-A8RY-01A-11D-A36X-10	TCGA-Y8-A8RY-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fbd6df33-90cf-4c79-bf0c-9f5bd762c16f	7a66b4e5-8f59-4d6e-b6dc-58884cf787ff	g.chr10:135012281G>A	ENST00000304613.3	+	14	2290	c.2269G>A	c.(2269-2271)Ggc>Agc	p.G757S	KNDC1_ENST00000368572.2_Missense_Mutation_p.G757S|KNDC1_ENST00000368571.2_Missense_Mutation_p.G692S			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	757	Pro-rich.				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)		CTCAGCCCAGGGCCGCCCCTG	0.736																																																0													5	8	7					10																	135012281		2096	4169	6265	SO:0001583	missense	85442			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.2269G>A	chr10.hg19:g.135012281G>A	ENSP00000304437:p.Gly757Ser		B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	hg19	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.092782	0.56075	.	.	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.20200	2.61;2.61;2.09	4.0	4.0	0.46444	.	0.312106	0.24429	U	0.038609	T	0.32912	0.0845	L	0.50333	1.59	0.09310	N	1	D;P;B	0.61697	0.99;0.944;0.421	P;P;B	0.58721	0.844;0.548;0.086	T	0.05354	-1.0890	10	0.41790	T	0.15	-6.823	11.9945	0.53194	0.0:0.0:1.0:0.0	.	757;692;757	Q76NI1-4;Q76NI1-2;Q76NI1	.;.;VKIND_HUMAN	S	757;757;692	ENSP00000304437:G757S;ENSP00000357561:G757S;ENSP00000357560:G692S	ENSP00000304437:G757S	G	+	1	0	KNDC1	134862271	0.033000	0.19621	0.010000	0.14722	0.175000	0.22909	0.981000	0.29526	1.954000	0.56735	0.306000	0.20318	GGC		0.736	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		A	135012281	G	A	135012281	3	1	821	1	0	0	0	0	1	0	0	0	8428	1232	43	2	2323	2	KNDC1	10	135012281	Missense_Mutation	SNP	G	TCGA-Y8-A8RY-01A-11D-A36X-10	129090014	135012281	522466	40	49404											
GTF2H1	2965	hgsc.bcm.edu	37	11	18382179	18382179	+	Silent	SNP	T	T	C			TCGA-Y8-A8RY-01A-11D-A36X-10	TCGA-Y8-A8RY-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fbd6df33-90cf-4c79-bf0c-9f5bd762c16f	7a66b4e5-8f59-4d6e-b6dc-58884cf787ff	g.chr11:18382179T>C	ENST00000265963.4	+	14	1645	c.1485T>C	c.(1483-1485)agT>agC	p.S495S	GTF2H1_ENST00000534641.1_Silent_p.S379S|GTF2H1_ENST00000453096.2_Silent_p.S495S|GTF2H1_ENST00000526630.2_Silent_p.S85S|GTF2H1_ENST00000530496.2_Silent_p.S183S	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa	495					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 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)|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)|nucleus (GO:0005634)				endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						AAATGAAAAGTAATTTGGAAC	0.343								Nucleotide excision repair (NER)																																								0													77	83	81					11																	18382179		2199	4293	6492	SO:0001819	synonymous_variant	2965				CCDS7838.1	11p15.1-p14	2012-11-05	2002-08-29		ENSG00000110768	ENSG00000110768		"General transcription factors", "General transcription factor IIH complex subunits"	4655	protein-coding gene	gene with protein product		189972	"general transcription factor IIH, polypeptide 1 (62kD subunit)"			1529339, 8162052	Standard	NM_005316		Approved	BTF2, P62, TFIIH	uc001moh.2	P32780	OTTHUMG00000167690	ENST00000265963.4:c.1485T>C	chr11.hg19:g.18382179T>C			B3KXE0|D3DQY2|Q6I9Y7|Q9H5K5|Q9NQD9	Silent	SNP	ENST00000265963.4	hg19	CCDS7838.1																																																																																				0.343	GTF2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395627.2	NM_005316		C	18382179	T	C	18382179	2	2	821	1	0	0	0	0	0	0	0	1	6862	1635	57	3		3	GTF2H1	11	18382179	Silent	SNP	T	TCGA-Y8-A8RY-01A-11D-A36X-10		18382179	116624337	41	49405											
DAGLA	747	hgsc.bcm.edu	37	11	61490356	61490356	+	Silent	SNP	C	C	T	rs374808753		TCGA-Y8-A8RY-01A-11D-A36X-10	TCGA-Y8-A8RY-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fbd6df33-90cf-4c79-bf0c-9f5bd762c16f	7a66b4e5-8f59-4d6e-b6dc-58884cf787ff	g.chr11:61490356C>T	ENST00000257215.5	+	4	449	c.333C>T	c.(331-333)taC>taT	p.Y111Y		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	111					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)		AGTTCATCTACGCCATCGTGG	0.607																																																0								C		1,4403	2.1+/-5.4	0,1,2201	248	163	192		333	-6.6	0.7	11		192	0,8598		0,0,4299	no	coding-synonymous	DAGLA	NM_006133.2		0,1,6500	TT,TC,CC		0.0,0.0227,0.0077		111/1043	61490356	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	747			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.333C>T	chr11.hg19:g.61490356C>T			A7E233|Q6WQJ0	Silent	SNP	ENST00000257215.5	hg19	CCDS31578.1																																																																																				0.607	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	NM_006133		T	61490356	C	T	61490356	2	4	821	1	0	0	0	0	0	0	0	1	4228	547	19	1		1	DAGLA	11	61490356	Silent	SNP	C	TCGA-Y8-A8RY-01A-11D-A36X-10	43108177	61490356	73516160	42	49406											
INPPL1	3636	hgsc.bcm.edu	37	11	71941503	71941503	+	Silent	SNP	C	C	A			TCGA-Y8-A8RY-01A-11D-A36X-10	TCGA-Y8-A8RY-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fbd6df33-90cf-4c79-bf0c-9f5bd762c16f	7a66b4e5-8f59-4d6e-b6dc-58884cf787ff	g.chr11:71941503C>A	ENST00000298229.2	+	10	1392	c.1188C>A	c.(1186-1188)gtC>gtA	p.V396V	INPPL1_ENST00000538751.1_Silent_p.V154V|INPPL1_ENST00000541756.1_Silent_p.V154V	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	396					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TCATCTTTGTCAGTGCCCGGG	0.582																																																0													78	77	77					11																	71941503		2200	4293	6493	SO:0001819	synonymous_variant	3636			Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"Sterile alpha motif (SAM) domain containing", "SH2 domain containing"	6080	protein-coding gene	gene with protein product	"51C protein"	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.1188C>A	chr11.hg19:g.71941503C>A			B2RTX5|Q13577|Q13578	Silent	SNP	ENST00000298229.2	hg19	CCDS8213.1																																																																																				0.582	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396789.1	NM_001567		A	71941503	C	A	71941503	2	1	821	1	0	0	0	0	0	0	0	1	7763	813	29	4		4	INPPL1	11	71941503	Silent	SNP	C	TCGA-Y8-A8RY-01A-11D-A36X-10	10451147	71941503	63065013	43	49407											
FCHSD2	9873	hgsc.bcm.edu	37	11	72700036	72700036	+	Missense_Mutation	SNP	A	A	G			TCGA-Y8-A8RY-01A-11D-A36X-10	TCGA-Y8-A8RY-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fbd6df33-90cf-4c79-bf0c-9f5bd762c16f	7a66b4e5-8f59-4d6e-b6dc-58884cf787ff	g.chr11:72700036A>G	ENST00000409418.4	-	6	877	c.494T>C	c.(493-495)gTa>gCa	p.V165A	FCHSD2_ENST00000409314.1_Missense_Mutation_p.V165A|FCHSD2_ENST00000458644.2_Missense_Mutation_p.V5A|FCHSD2_ENST00000311172.7_Missense_Mutation_p.V109A|FCHSD2_ENST00000409853.1_Missense_Mutation_p.V109A	NM_014824.2	NP_055639.2	O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	165										endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			TTTCTCTCGTACTGCATGAGC	0.338																																																0													214	178	190					11																	72700036		2198	4290	6488	SO:0001583	missense	9873			AB018312	CCDS8218.2	11q13.3	2008-02-05	2004-04-14	2004-04-16	ENSG00000137478	ENSG00000137478			29114	protein-coding gene	gene with protein product			"SH3 multiple domains 3"	SH3MD3		9872452, 15067381	Standard	NM_014824		Approved	KIAA0769	uc009ytl.3	O94868	OTTHUMG00000153082	ENST00000409418.4:c.494T>C	chr11.hg19:g.72700036A>G	ENSP00000386722:p.Val165Ala		B4DNI3|Q7L8J9|Q8WVM2|Q96FV7|Q9UF77	Missense_Mutation	SNP	ENST00000409418.4	hg19	CCDS8218.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.34|11.34	1.610376|1.610376	0.28712|0.28712	.|.	.|.	ENSG00000137478|ENSG00000137478	ENST00000311172;ENST00000409314;ENST00000409418;ENST00000458644;ENST00000409853|ENST00000543644	T;T;T;T;T|.	0.18502|.	3.13;3.13;3.13;2.21;3.13|.	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	0.124939|.	0.53938|.	D|.	0.000050|.	T|T	0.52041|0.52041	0.1710|0.1710	N|N	0.21324|0.21324	0.655|0.655	0.51233|0.51233	D|D	0.999913|0.999913	P;P;B|.	0.50066|.	0.931;0.792;0.075|.	B;B;B|.	0.41332|.	0.354;0.138;0.046|.	T|T	0.49273|0.49273	-0.8957|-0.8957	10|5	0.02654|.	T|.	1|.	-18.7119|-18.7119	14.7885|14.7885	0.69821|0.69821	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	5;165;109|.	E7ENZ2;O94868;O94868-3|.	.;FCSD2_HUMAN;.|.	A|H	109;165;165;5;109|8	ENSP00000308978:V109A;ENSP00000386987:V165A;ENSP00000386722:V165A;ENSP00000402972:V5A;ENSP00000386314:V109A|.	ENSP00000308978:V109A|.	V|Y	-|-	2|1	0|0	FCHSD2|FCHSD2	72377684|72377684	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	8.932000|8.932000	0.92897|0.92897	2.093000|2.093000	0.63338|0.63338	0.379000|0.379000	0.24179|0.24179	GTA|TAC		0.338	FCHSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329429.2	NM_014824		G	72700036	A	G	72700036	3	3	821	1	0	0	0	0	1	0	0	0	5792	391	14	3	1788	3	FCHSD2	11	72700036	Missense_Mutation	SNP	A	TCGA-Y8-A8RY-01A-11D-A36X-10	758533	72700036	62306480	44	49408											
RSF1	51773	hgsc.bcm.edu	37	11	77412208	77412208	+	Missense_Mutation	SNP	G	G	T			TCGA-Y8-A8RY-01A-11D-A36X-10	TCGA-Y8-A8RY-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fbd6df33-90cf-4c79-bf0c-9f5bd762c16f	7a66b4e5-8f59-4d6e-b6dc-58884cf787ff	g.chr11:77412208G>T	ENST00000308488.6	-	6	2368	c.2066C>A	c.(2065-2067)tCt>tAt	p.S689Y	RSF1_ENST00000360355.2_Missense_Mutation_p.S658Y|RSF1_ENST00000480887.1_Missense_Mutation_p.S437Y			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	689					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)			CTCTATGCCAGAGGTCTGGGC	0.413																																																0													98	100	99					11																	77412208		2199	4291	6490	SO:0001583	missense	51773			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.2066C>A	chr11.hg19:g.77412208G>T	ENSP00000311513:p.Ser689Tyr		Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Missense_Mutation	SNP	ENST00000308488.6	hg19	CCDS8253.1	.	.	.	.	.	.	.	.	.	.	G	4.376	0.069294	0.08436	.	.	ENSG00000048649	ENST00000308488;ENST00000480887;ENST00000360355;ENST00000526324;ENST00000528095	D;D;D;D;T	0.86769	-2.14;-2.14;-2.13;-2.17;0.95	5.23	3.22	0.36961	.	0.380726	0.23067	N	0.052308	T	0.80221	0.4583	L	0.27053	0.805	0.09310	N	1	D	0.56521	0.976	P	0.44732	0.459	T	0.73569	-0.3941	10	0.72032	D	0.01	-3.2478	10.3956	0.44198	0.0:0.2723:0.5869:0.1407	.	689	Q96T23	RSF1_HUMAN	Y	689;437;658;490;688	ENSP00000311513:S689Y;ENSP00000434509:S437Y;ENSP00000353511:S658Y;ENSP00000432022:S490Y;ENSP00000436408:S688Y	ENSP00000311513:S689Y	S	-	2	0	RSF1	77089856	0.469000	0.25846	0.312000	0.25196	0.045000	0.14185	2.914000	0.48797	1.399000	0.46721	0.655000	0.94253	TCT		0.413	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318075.2	NM_016578		T	77412208	G	T	77412208	3	4	821	1	0	0	0	0	1	0	0	0	13705	942	33	4	2303	4	RSF1	11	77412208	Missense_Mutation	SNP	G	TCGA-Y8-A8RY-01A-11D-A36X-10	4712172	77412208	57594308	45	49409											
ATM	472	hgsc.bcm.edu	37	11	108213973	108213973	+	Missense_Mutation	SNP	G	G	A			TCGA-Y8-A8RY-01A-11D-A36X-10	TCGA-Y8-A8RY-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fbd6df33-90cf-4c79-bf0c-9f5bd762c16f	7a66b4e5-8f59-4d6e-b6dc-58884cf787ff	g.chr11:108213973G>A	ENST00000452508.2	+	58	8482	c.8293G>A	c.(8293-8295)Ggt>Agt	p.G2765S	C11orf65_ENST00000526725.1_Intron|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.G2765S			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2765	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		G -> S (may contribute to breast cancer). {ECO:0000269|PubMed:10534763}.		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)	TCAGCGAAGTGGTGTTCTTGA	0.398			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	0			GRCh37	CM994662	ATM	M							168	155	160					11																	108213973		2201	4298	6499	SO:0001583	missense	472	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.8293G>A	chr11.hg19:g.108213973G>A	ENSP00000388058:p.Gly2765Ser		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	hg19	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	36	5.764800	0.96906	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	D;D	0.81659	-1.52;-1.52	5.56	5.56	0.83823	Protein kinase-like domain (1);Armadillo-type fold (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	D	0.93963	0.8067	H	0.97315	3.98	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95499	0.8576	10	0.87932	D	0	.	19.8788	0.96888	0.0:0.0:1.0:0.0	.	2765	Q13315	ATM_HUMAN	S	2765	ENSP00000278616:G2765S;ENSP00000388058:G2765S	ENSP00000278616:G2765S	G	+	1	0	ATM	107719183	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.391000	0.97249	2.779000	0.95612	0.561000	0.74099	GGT		0.398	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		A	108213973	G	A	108213973	3	1	821	1	0	0	0	0	1	0	0	0	1109	1348	47	2	8515	2	ATM	11	108213973	Missense_Mutation	SNP	G	TCGA-Y8-A8RY-01A-11D-A36X-10	30801765	108213973	26792543	46	49410											
DLAT	1737	hgsc.bcm.edu	37	11	111933142	111933142	+	Silent	SNP	T	T	A			TCGA-Y8-A8RY-01A-11D-A36X-10	TCGA-Y8-A8RY-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fbd6df33-90cf-4c79-bf0c-9f5bd762c16f	7a66b4e5-8f59-4d6e-b6dc-58884cf787ff	g.chr11:111933142T>A	ENST00000280346.6	+	14	2486	c.1827T>A	c.(1825-1827)gcT>gcA	p.A609A	DLAT_ENST00000537636.1_Silent_p.A380A|DLAT_ENST00000393051.1_Silent_p.A504A	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	609	Catalytic. {ECO:0000250}.				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)		TTGATGTGGCTAGCATGATGT	0.423																																																0													154	159	157					11																	111933142		2201	4297	6498	SO:0001819	synonymous_variant	1737			Y00978	CCDS8354.1	11q23.1	2008-02-05	2008-02-04		ENSG00000150768	ENSG00000150768	2.3.1.12		2896	protein-coding gene	gene with protein product	"E2 component of pyruvate dehydrogenase complex"	608770		DLTA		8102256	Standard	NM_001931		Approved	PDC-E2	uc001pmo.3	P10515	OTTHUMG00000133751	ENST00000280346.6:c.1827T>A	chr11.hg19:g.111933142T>A			Q16783|Q53EP3	Silent	SNP	ENST00000280346.6	hg19	CCDS8354.1																																																																																				0.423	DLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258167.1	NM_001931		A	111933142	T	A	111933142	2	1	821	1	0	0	0	0	0	0	0	1	4551	1509	53	5		5	DLAT	11	111933142	Silent	SNP	T	TCGA-Y8-A8RY-01A-11D-A36X-10	3719169	111933142	23073374	47	49411											
TMPRSS13	84000	hgsc.bcm.edu	37	11	117789218	117789218	+	Silent	SNP	C	C	T			TCGA-Y8-A8RY-01A-11D-A36X-10	TCGA-Y8-A8RY-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fbd6df33-90cf-4c79-bf0c-9f5bd762c16f	7a66b4e5-8f59-4d6e-b6dc-58884cf787ff	g.chr11:117789218C>T	ENST00000430170.2	-	2	444	c.357G>A	c.(355-357)gtG>gtA	p.V119V	TMPRSS13_ENST00000528626.1_Silent_p.V119V|TMPRSS13_ENST00000524993.1_Silent_p.V119V|TMPRSS13_ENST00000445164.2_Silent_p.V119V|TMPRSS13_ENST00000526090.1_Silent_p.V119V	NM_001244995.1	NP_001231924.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	119						blood microparticle (GO:0072562)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		TAACAAGGTACACTCTGGTTG	0.617																																																0													80	91	87					11																	117789218		2096	4215	6311	SO:0001819	synonymous_variant	84000			AB048796	CCDS41721.1, CCDS55788.1, CCDS55789.1, CCDS58185.1	11q23	2010-04-13	2005-03-11	2005-03-12	ENSG00000137747	ENSG00000137747		"Serine peptidases / Transmembrane"	29808	protein-coding gene	gene with protein product		610050	"transmembrane protease, serine 11"	TMPRSS11		11267681	Standard	NM_001077263		Approved	MSPL	uc001prs.2	Q9BYE2	OTTHUMG00000166992	ENST00000430170.2:c.357G>A	chr11.hg19:g.117789218C>T			B4DTM9|E9PIJ5|F8WAJ3|Q86YM4|Q96JY8|Q9BYE1	Silent	SNP	ENST00000430170.2	hg19	CCDS58185.1																																																																																				0.617	TMPRSS13-006	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000392318.1	NM_032046		T	117789218	C	T	117789218	2	4	821	1	0	0	0	0	0	0	0	1	16250	465	17	2		2	TMPRSS13	11	117789218	Silent	SNP	C	TCGA-Y8-A8RY-01A-11D-A36X-10	5856076	117789218	17217298	48	49412											
KIF21A	55605	hgsc.bcm.edu	37	12	39695383	39695383	+	Silent	SNP	G	G	C	rs576774677		TCGA-Y8-A8RY-01A-11D-A36X-10	TCGA-Y8-A8RY-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fbd6df33-90cf-4c79-bf0c-9f5bd762c16f	7a66b4e5-8f59-4d6e-b6dc-58884cf787ff	g.chr12:39695383G>C	ENST00000361418.5	-	37	4845	c.4830C>G	c.(4828-4830)gtC>gtG	p.V1610V	KIF21A_ENST00000544797.2_Silent_p.V1573V|KIF21A_ENST00000361961.3_Silent_p.V1597V|KIF21A_ENST00000541463.2_Silent_p.V1557V|KIF21A_ENST00000395670.3_Silent_p.V1611V			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1610					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)				CCATGTTCCAGACTTTCAAAA	0.478													G|||	1	0.000199681	0.0	0.0	5008	,	,		16506	0.0		0.0	False		,,,				2504	0.001															0													153	158	156					12																	39695383		2203	4300	6503	SO:0001819	synonymous_variant	55605			AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"Kinesins", "WD repeat domain containing"	19349	protein-coding gene	gene with protein product		608283	"fibrosis of the extraocular muscles, congenital, 1"	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.4830C>G	chr12.hg19:g.39695383G>C			A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Silent	SNP	ENST00000361418.5	hg19	CCDS53776.1	.	.	.	.	.	.	.	.	.	.	G	8.051	0.766015	0.15983	.	.	ENSG00000139116	ENST00000552961	.	.	.	4.71	0.618	0.17624	.	.	.	.	.	T	0.51058	0.1652	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35025	-0.9805	4	.	.	.	.	5.3056	0.15801	0.2279:0.277:0.4952:0.0	.	.	.	.	C	911	.	.	S	-	2	0	KIF21A	37981650	0.996000	0.38824	0.987000	0.45799	0.989000	0.77384	0.321000	0.19558	-0.055000	0.13244	-0.145000	0.13849	TCT		0.478	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		C	39695383	G	C	39695383	2	2	821	1	0	0	0	0	0	0	0	1	8290	929	33	4		4	KIF21A	12	39695383	Silent	SNP	G	TCGA-Y8-A8RY-01A-11D-A36X-10		39695383	94156512	49	49413											
GXYLT1	283464	hgsc.bcm.edu	37	12	42538257	42538295	+	In_Frame_Del	DEL	GCCCGCGACGCCGGCGCCTCTCACGGCGCCGCGTCCGCC	GCCCGCGACGCCGGCGCCTCTCACGGCGCCGCGTCCGCC	-	rs549907912|rs560905337	byFrequency	TCGA-Y8-A8RY-01A-11D-A36X-10	TCGA-Y8-A8RY-10A-01D-A370-10	GCCCGCGACGCCGGCGCCTCTCACGGCGCCGCGTCCGCC	GCCCGCGACGCCGGCGCCTCTCACGGCGCCGCGTCCGCC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fbd6df33-90cf-4c79-bf0c-9f5bd762c16f	7a66b4e5-8f59-4d6e-b6dc-58884cf787ff	g.chr12:42538257_42538295delGCCCGCGACGCCGGCGCCTCTCACGGCGCCGCGTCCGCC	ENST00000398675.3	-	1	386_424	c.154_192delGGCGGACGCGGCGCCGTGAGAGGCGCCGGCGTCGCGGGC	c.(154-192)ggcggacgcggcgccgtgagaggcgccggcgtcgcgggcdel	p.GGRGAVRGAGVAG52del	GXYLT1_ENST00000280876.6_In_Frame_Del_p.GGRGAVRGAGVAG52del	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN	glucoside xylosyltransferase 1	52					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						GCGCTGCGGGGCCCGCGACGCCGGCGCCTCTCACGGCGCCGCGTCCGCCGCCCGCGAGC	0.778														45	0.00898562	0.0272	0.0029	5008	,	,		10151	0.001		0.005	False		,,,				2504	0.001															0																																										SO:0001651	inframe_deletion	283464			BC015597	CCDS41771.1, CCDS41772.1	12q12	2013-10-11	2009-11-17	2009-11-17	ENSG00000151233	ENSG00000151233		"Glycosyltransferase family 8 domain containing"	27482	protein-coding gene	gene with protein product		613321	"glycosyltransferase 8 domain containing 3"	GLT8D3		19940119	Standard	NM_001099650		Approved	FLJ43151	uc001rms.4	Q4G148	OTTHUMG00000169379	ENST00000398675.3:c.154_192delGGCGGACGCGGCGCCGTGAGAGGCGCCGGCGTCGCGGGC	chr12.hg19:g.42538257_42538295delGCCCGCGACGCCGGCGCCTCTCACGGCGCCGCGTCCGCC	ENSP00000381666:p.Gly52_Gly64del		B3KWJ2|Q8IXV1|Q96BH4	In_Frame_Del	DEL	ENST00000398675.3	hg19	CCDS41772.1																																																																																				0.778	GXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403778.1	XM_290597		-	42538295	GCCCGCGACGCCGGCGCCTCTCACGGCGCCGCGTCCGCC	-	42538257	7	5	821	1	0	1	0	1	0	0	0	0	6905	1190	42	0	1162	0	GXYLT1	12	42538257	In_Frame_Del	DEL	GCCCGCGACGCCGGCGCCTCTCACGGCGCCGCGTCCGCC	TCGA-Y8-A8RY-01A-11D-A36X-10	2842874	42538257	91313638	50	49414											
HDAC7	51564	hgsc.bcm.edu	37	12	48181543	48181543	+	Missense_Mutation	SNP	C	C	G			TCGA-Y8-A8RY-01A-11D-A36X-10	TCGA-Y8-A8RY-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fbd6df33-90cf-4c79-bf0c-9f5bd762c16f	7a66b4e5-8f59-4d6e-b6dc-58884cf787ff	g.chr12:48181543C>G	ENST00000427332.2	-	21	2444	c.2288G>C	c.(2287-2289)gGa>gCa	p.G763A	HDAC7_ENST00000354334.3_Missense_Mutation_p.G765A|HDAC7_ENST00000080059.7_Missense_Mutation_p.G802A|HDAC7_ENST00000552960.1_Missense_Mutation_p.G785A|HDAC7_ENST00000488927.1_5'Flank|HDAC7_ENST00000380610.4_Missense_Mutation_p.G819A			Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	763	Histone deacetylase.				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)		GTCCAGACCTCCAGCCCAGGC	0.617																																																0													30	32	31					12																	48181543		2201	4300	6501	SO:0001583	missense	51564			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.2288G>C	chr12.hg19:g.48181543C>G	ENSP00000404394:p.Gly763Ala		B3KY08|B4DWI0|B4E0Q5|Q6P1W9|Q6W9G7|Q7Z4K2|Q7Z5I1|Q96K01|Q9BR73|Q9H7L0|Q9NW41|Q9NWA9|Q9NYK9|Q9UFU7	Missense_Mutation	SNP	ENST00000427332.2	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.8|26.8	4.771508|4.771508	0.90108|0.90108	.|.	.|.	ENSG00000061273|ENSG00000061273	ENST00000548080|ENST00000080059;ENST00000354334;ENST00000552960;ENST00000380610;ENST00000427332	.|T;T;T;T;T	.|0.68903	.|-0.36;-0.36;-0.36;-0.36;-0.36	4.97|4.97	4.97|4.97	0.65823|0.65823	.|Histone deacetylase domain (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.73552|0.73552	0.3601|0.3601	L|L	0.35644|0.35644	1.08|1.08	0.80722|0.80722	D|D	1|1	.|D;P;P;D	.|0.63046	.|0.971;0.918;0.955;0.992	.|P;P;P;P	.|0.62649	.|0.786;0.516;0.809;0.905	T|T	0.76575|0.76575	-0.2909|-0.2909	5|10	.|0.72032	.|D	.|0.01	.|.	17.2281|17.2281	0.86977|0.86977	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|763;802;785;765	.|Q8WUI4;Q8WUI4-5;Q8WUI4-6;Q8WUI4-7	.|HDAC7_HUMAN;.;.;.	Q|A	195|802;765;785;819;763	.|ENSP00000080059:G802A;ENSP00000351326:G765A;ENSP00000448532:G785A;ENSP00000369984:G819A;ENSP00000404394:G763A	.|ENSP00000080059:G802A	E|G	-|-	1|2	0|0	HDAC7|HDAC7	46467810|46467810	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.988000|0.988000	0.76386|0.76386	6.037000|6.037000	0.70956|0.70956	2.487000|2.487000	0.83934|0.83934	0.485000|0.485000	0.47835|0.47835	GAG|GGA		0.617	HDAC7-013	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000328804.2			G	48181543	C	G	48181543	3	3	821	1	0	0	0	0	1	0	0	0	7014	855	30	4	594	4	HDAC7	12	48181543	Missense_Mutation	SNP	C	TCGA-Y8-A8RY-01A-11D-A36X-10	5643286	48181543	85670352	51	49415											
NAA16	79612	hgsc.bcm.edu	37	13	41936177	41936177	+	Missense_Mutation	SNP	C	C	T			TCGA-Y8-A8RY-01A-11D-A36X-10	TCGA-Y8-A8RY-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fbd6df33-90cf-4c79-bf0c-9f5bd762c16f	7a66b4e5-8f59-4d6e-b6dc-58884cf787ff	g.chr13:41936177C>T	ENST00000379406.3	+	13	1745	c.1421C>T	c.(1420-1422)tCt>tTt	p.S474F	NAA16_ENST00000379367.3_Missense_Mutation_p.S474F	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	474					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)			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						GAAGGAACATCTGCCATGGAA	0.388																																																0													101	99	100					13																	41936177		2203	4300	6503	SO:0001583	missense	79612			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.1421C>T	chr13.hg19:g.41936177C>T	ENSP00000368716:p.Ser474Phe		B0QZ59|Q5VSP9|Q6P2D5|Q8N5J3|Q8N870	Missense_Mutation	SNP	ENST00000379406.3	hg19	CCDS9379.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.028782	0.75504	.	.	ENSG00000172766	ENST00000379367;ENST00000379406	T;T	0.47869	0.83;0.83	5.26	5.26	0.73747	Tetratricopeptide-like helical (1);	0.076588	0.56097	D	0.000030	T	0.71384	0.3333	M	0.81497	2.545	0.58432	D	0.999999	D	0.69078	0.997	D	0.71414	0.973	T	0.74907	-0.3504	10	0.66056	D	0.02	-13.9844	19.2111	0.93755	0.0:1.0:0.0:0.0	.	474	Q6N069	NAA16_HUMAN	F	474	ENSP00000368674:S474F;ENSP00000368716:S474F	ENSP00000368674:S474F	S	+	2	0	NAA16	40834177	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.307000	0.78920	2.623000	0.88846	0.655000	0.94253	TCT		0.388	NAA16-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044672.2	NM_018527		T	41936177	C	T	41936177	3	4	821	1	0	0	0	0	1	0	0	0	10121	913	32	2	1504	2	NAA16	13	41936177	Missense_Mutation	SNP	C	TCGA-Y8-A8RY-01A-11D-A36X-10		41936177	73233701	52	49416											
DCT	1638	hgsc.bcm.edu	37	13	95121020	95121020	+	Missense_Mutation	SNP	G	G	A			TCGA-Y8-A8RY-01A-11D-A36X-10	TCGA-Y8-A8RY-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fbd6df33-90cf-4c79-bf0c-9f5bd762c16f	7a66b4e5-8f59-4d6e-b6dc-58884cf787ff	g.chr13:95121020G>A	ENST00000377028.5	-	2	988	c.575C>T	c.(574-576)tCt>tTt	p.S192F	DCT_ENST00000446125.1_Missense_Mutation_p.S192F|DCT_ENST00000490854.1_5'Flank	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	192					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)		ATCTCTAACAGAATAATAATG	0.438																																																0													102	107	105					13																	95121020		2203	4300	6503	SO:0001583	missense	1638			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.575C>T	chr13.hg19:g.95121020G>A	ENSP00000366227:p.Ser192Phe		Q09GT4	Missense_Mutation	SNP	ENST00000377028.5	hg19	CCDS9470.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.782531	0.90282	.	.	ENSG00000080166	ENST00000377028;ENST00000446125	D;D	0.98792	-5.14;-5.14	5.69	5.69	0.88448	Tyrosinase (1);Uncharacterised domain, di-copper centre (2);	0.000000	0.85682	D	0.000000	D	0.99045	0.9673	M	0.71206	2.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99869	1.1094	10	0.62326	D	0.03	-23.5448	19.8199	0.96589	0.0:0.0:1.0:0.0	.	192;192	Q09GT4;P40126	.;TYRP2_HUMAN	F	192	ENSP00000366227:S192F;ENSP00000392762:S192F	ENSP00000366227:S192F	S	-	2	0	DCT	93919021	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.677000	0.91161	0.655000	0.94253	TCT		0.438	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045461.3			A	95121020	G	A	95121020	3	1	821	1	0	0	0	0	1	0	0	0	4306	942	33	2	1119	2	DCT	13	95121020	Missense_Mutation	SNP	G	TCGA-Y8-A8RY-01A-11D-A36X-10	53184843	95121020	20048858	53	49417											
COL4A2	1284	hgsc.bcm.edu	37	13	111082947	111082947	+	Missense_Mutation	SNP	G	G	A			TCGA-Y8-A8RY-01A-11D-A36X-10	TCGA-Y8-A8RY-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fbd6df33-90cf-4c79-bf0c-9f5bd762c16f	7a66b4e5-8f59-4d6e-b6dc-58884cf787ff	g.chr13:111082947G>A	ENST00000360467.5	+	10	947	c.641G>A	c.(640-642)gGg>gAg	p.G214E	COL4A2_ENST00000462309.1_3'UTR	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	214	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)			GGAGCTCCAGGGAGACCAGTA	0.567																																																0													90	94	93					13																	111082947		1911	4118	6029	SO:0001583	missense	1284			AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"Collagens"	2203	protein-coding gene	gene with protein product	"canstatin", "collagen type IV alpha 2"	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.641G>A	chr13.hg19:g.111082947G>A	ENSP00000353654:p.Gly214Glu		Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	hg19	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.336498	0.60963	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.99353	-5.77	5.28	4.44	0.53790	.	0.119241	0.37530	N	0.002060	D	0.99190	0.9719	H	0.97265	3.97	0.80722	D	1	P	0.36974	0.576	B	0.39706	0.307	D	0.98740	1.0716	10	0.87932	D	0	.	11.9483	0.52940	0.0805:0.0:0.9195:0.0	.	214	P08572	CO4A2_HUMAN	E	214	ENSP00000353654:G214E	ENSP00000257309:G214E	G	+	2	0	COL4A2	109880948	1.000000	0.71417	0.780000	0.31762	0.927000	0.56198	6.287000	0.72671	1.215000	0.43411	0.650000	0.86243	GGG		0.567	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		A	111082947	G	A	111082947	3	1	821	1	0	0	0	0	1	0	0	0	3692	1232	43	2	675	2	COL4A2	13	111082947	Missense_Mutation	SNP	G	TCGA-Y8-A8RY-01A-11D-A36X-10	15961927	111082947	4086931	54	49418											
PELI2	57161	hgsc.bcm.edu	37	14	56746403	56746403	+	Missense_Mutation	SNP	T	T	C			TCGA-Y8-A8RY-01A-11D-A36X-10	TCGA-Y8-A8RY-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fbd6df33-90cf-4c79-bf0c-9f5bd762c16f	7a66b4e5-8f59-4d6e-b6dc-58884cf787ff	g.chr14:56746403T>C	ENST00000267460.4	+	3	503	c.217T>C	c.(217-219)Tgc>Cgc	p.C73R		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	73	FHA; atypical.				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						GGCTATCAGCTGCAAAGGTCA	0.363																																																0													116	113	114					14																	56746403		2203	4300	6503	SO:0001583	missense	57161			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.217T>C	chr14.hg19:g.56746403T>C	ENSP00000267460:p.Cys73Arg		B2RDY5	Missense_Mutation	SNP	ENST00000267460.4	hg19	CCDS9726.1	.	.	.	.	.	.	.	.	.	.	T	10.43	1.348530	0.24426	.	.	ENSG00000139946	ENST00000267460	T	0.40225	1.04	4.84	3.66	0.41972	.	0.233454	0.51477	D	0.000086	T	0.24547	0.0595	N	0.11427	0.14	0.80722	D	1	B	0.22909	0.077	B	0.28139	0.086	T	0.05582	-1.0876	10	0.42905	T	0.14	-17.5883	9.3117	0.37910	0.2868:0.0:0.0:0.7132	.	73	Q9HAT8	PELI2_HUMAN	R	73	ENSP00000267460:C73R	ENSP00000267460:C73R	C	+	1	0	PELI2	55816156	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	0.741000	0.26202	0.937000	0.37394	0.455000	0.32223	TGC		0.363	PELI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276925.1			C	56746403	T	C	56746403	3	2	821	1	0	0	0	0	1	0	0	0	11724	1580	55	3	227	3	PELI2	14	56746403	Missense_Mutation	SNP	T	TCGA-Y8-A8RY-01A-11D-A36X-10		56746403	50603137	55	49419											
C14orf148	122945	hgsc.bcm.edu	37	14	77872299	77872299	+	Missense_Mutation	SNP	C	C	A			TCGA-Y8-A8RY-01A-11D-A36X-10	TCGA-Y8-A8RY-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fbd6df33-90cf-4c79-bf0c-9f5bd762c16f	7a66b4e5-8f59-4d6e-b6dc-58884cf787ff	g.chr14:77872299C>A	ENST00000380835.2	-	5	1028	c.862G>T	c.(862-864)Gat>Tat	p.D288Y		NM_001113475.2	NP_001106946.1	Q6NXP6	NXRD1_HUMAN	NADP-dependent oxidoreductase domain containing 1	288					proline biosynthetic process (GO:0006561)		pyrroline-5-carboxylate reductase activity (GO:0004735)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9						CTGACAAAATCTGTTAATTGC	0.458																																																0													99	90	92					14																	77872299		1568	3582	5150	SO:0001583	missense	122945			AK057371	CCDS45142.1	14q24.3	2011-09-30	2011-09-30	2011-09-30	ENSG00000165555	ENSG00000165555			20487	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 148"	C14orf148			Standard	NM_001113475		Approved	FLJ32809	uc001xtr.3	Q6NXP6	OTTHUMG00000171554	ENST00000380835.2:c.862G>T	chr14.hg19:g.77872299C>A	ENSP00000370215:p.Asp288Tyr		B3KQ47|O95435	Missense_Mutation	SNP	ENST00000380835.2	hg19	CCDS45142.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.053689	0.55218	.	.	ENSG00000165555	ENST00000380835	T	0.58060	0.36	5.66	1.33	0.21861	.	0.389223	0.26446	N	0.024337	T	0.58779	0.2146	L	0.56769	1.78	0.30911	N	0.729061	D	0.61697	0.99	P	0.57009	0.811	T	0.62728	-0.6793	10	0.72032	D	0.01	-7.4072	9.5769	0.39463	0.1517:0.4074:0.4409:0.0	.	288	Q6NXP6	NXRD1_HUMAN	Y	288	ENSP00000370215:D288Y	ENSP00000370215:D288Y	D	-	1	0	C14orf148	76942052	0.233000	0.23772	0.081000	0.20488	0.896000	0.52359	0.741000	0.26202	0.267000	0.21916	0.460000	0.39030	GAT		0.458	NOXRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414103.1	NM_138791		A	77872299	C	A	77872299	3	1	821	1	0	0	0	0	1	0	0	0	1753	913	32	4	225	4	C14orf148	14	77872299	Missense_Mutation	SNP	C	TCGA-Y8-A8RY-01A-11D-A36X-10	21125896	77872299	29477241	56	49420											
EIF2AK4	440275	hgsc.bcm.edu	37	15	40226434	40226434	+	Missense_Mutation	SNP	A	A	G			TCGA-Y8-A8RY-01A-11D-A36X-10	TCGA-Y8-A8RY-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fbd6df33-90cf-4c79-bf0c-9f5bd762c16f	7a66b4e5-8f59-4d6e-b6dc-58884cf787ff	g.chr15:40226434A>G	ENST00000263791.5	+	1	81	c.38A>G	c.(37-39)gAc>gGc	p.D13G	EIF2AK4_ENST00000560648.1_Missense_Mutation_p.D13G|EIF2AK4_ENST00000382727.2_Missense_Mutation_p.D13G|EIF2AK4_ENST00000559624.1_Missense_Mutation_p.D13G	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	13					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)		cgcggccgggACGAGCCTCCG	0.756																																																0													12	16	14					15																	40226434		1850	4077	5927	SO:0001583	missense	440275			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.38A>G	chr15.hg19:g.40226434A>G	ENSP00000263791:p.Asp13Gly		C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Missense_Mutation	SNP	ENST00000263791.5	hg19	CCDS42016.1	.	.	.	.	.	.	.	.	.	.	A	16.20	3.055510	0.55325	.	.	ENSG00000128829	ENST00000263791;ENST00000382727	T;T	0.69306	-0.39;-0.38	4.33	0.326	0.15908	.	0.311332	0.29551	N	0.011825	T	0.34687	0.0906	N	0.03608	-0.345	0.20975	N	0.999813	B;B	0.16603	0.018;0.013	B;B	0.19391	0.011;0.025	T	0.16305	-1.0407	10	0.23302	T	0.38	-2.8305	4.9778	0.14149	0.4581:0.4284:0.1134:0.0	.	13;13	Q9P2K8;Q9P2K8-3	E2AK4_HUMAN;.	G	13	ENSP00000263791:D13G;ENSP00000372174:D13G	ENSP00000263791:D13G	D	+	2	0	EIF2AK4	38013726	1.000000	0.71417	0.777000	0.31699	0.957000	0.61999	0.557000	0.23454	0.188000	0.20168	0.374000	0.22700	GAC		0.756	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1			G	40226434	A	G	40226434	3	3	821	1	0	0	0	0	1	0	0	0	5001	275	10	3	40	3	EIF2AK4	15	40226434	Missense_Mutation	SNP	A	TCGA-Y8-A8RY-01A-11D-A36X-10		40226434	62304958	57	49421											
FBN1	2200	hgsc.bcm.edu	37	15	48780565	48780565	+	Splice_Site	SNP	C	C	T			TCGA-Y8-A8RY-01A-11D-A36X-10	TCGA-Y8-A8RY-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fbd6df33-90cf-4c79-bf0c-9f5bd762c16f	7a66b4e5-8f59-4d6e-b6dc-58884cf787ff	g.chr15:48780565C>T	ENST00000316623.5	-	26	3663	c.3208G>A	c.(3208-3210)Gac>Aac	p.D1070N		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1070	EGF-like 16; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ATTAACTGACCTGTGCAGTTC	0.473																																																0													91	87	88					15																	48780565		2198	4296	6494	SO:0001630	splice_region_variant	2200			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"Marfan syndrome"	134797	"fibrillin 1 (Marfan syndrome)"	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.3208+1G>A	chr15.hg19:g.48780565C>T			B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	hg19	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	36	5.830889	0.97003	.	.	ENSG00000166147	ENST00000316623	D	0.99051	-5.37	6.17	6.17	0.99709	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	0.99184	0.9717	M	0.69248	2.105	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.99659	1.0993	9	.	.	.	.	20.4745	0.99168	0.0:1.0:0.0:0.0	.	1070	P35555	FBN1_HUMAN	N	1070	ENSP00000325527:D1070N	.	D	-	1	0	FBN1	46567857	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GAC		0.473	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1		Missense_Mutation	T	48780565	C	T	48780565	5	4	821	1	0	0	0	0	0	0	1	0	5704	695	24	2	5571	2	FBN1	15	48780565	Splice_Site	SNP	C	TCGA-Y8-A8RY-01A-11D-A36X-10	8554131	48780565	53750827	58	49422											
CEP152	22995	hgsc.bcm.edu	37	15	49031304	49031304	+	Silent	SNP	G	G	A			TCGA-Y8-A8RY-01A-11D-A36X-10	TCGA-Y8-A8RY-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fbd6df33-90cf-4c79-bf0c-9f5bd762c16f	7a66b4e5-8f59-4d6e-b6dc-58884cf787ff	g.chr15:49031304G>A	ENST00000380950.2	-	27	4462	c.4275C>T	c.(4273-4275)aaC>aaT	p.N1425N	CEP152_ENST00000399334.3_Silent_p.N1369N	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1425					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)		GATGCTCTGAGTTCTCTAACA	0.443																																																0													172	159	163					15																	49031304		1905	4128	6033	SO:0001819	synonymous_variant	22995			AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"asterless"	613529	"microcephaly, primary autosomal recessive 4"	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.4275C>T	chr15.hg19:g.49031304G>A			E7ER66|Q17RV1|Q6NTA0	Silent	SNP	ENST00000380950.2	hg19	CCDS58361.1																																																																																				0.443	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		A	49031304	G	A	49031304	2	1	821	1	0	0	0	0	0	0	0	1	3250	1020	36	2		2	CEP152	15	49031304	Silent	SNP	G	TCGA-Y8-A8RY-01A-11D-A36X-10	250739	49031304	53500088	59	49423											
AGBL1	123624	hgsc.bcm.edu	37	15	86790909	86790909	+	Missense_Mutation	SNP	C	C	A	rs370819428		TCGA-Y8-A8RY-01A-11D-A36X-10	TCGA-Y8-A8RY-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fbd6df33-90cf-4c79-bf0c-9f5bd762c16f	7a66b4e5-8f59-4d6e-b6dc-58884cf787ff	g.chr15:86790909C>A	ENST00000441037.2	+	6	491	c.396C>A	c.(394-396)aaC>aaA	p.N132K	AGBL1_ENST00000421325.2_Missense_Mutation_p.N132K	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	132					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						CAGAGTCGAACGGCCGCAGAG	0.557																																																0													20	22	21					15																	86790909		2113	4233	6346	SO:0001583	missense	123624			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.396C>A	chr15.hg19:g.86790909C>A	ENSP00000413001:p.Asn132Lys		A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	hg19	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.891754	0.72524	.	.	ENSG00000166748	ENST00000441037;ENST00000421325	T	0.41400	1.0	5.16	4.25	0.50352	Armadillo-like helical (1);Armadillo-type fold (1);	.	.	.	.	T	0.63129	0.2485	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.66492	-0.5910	9	0.72032	D	0.01	-11.8366	11.0423	0.47838	0.0:0.9138:0.0:0.0862	.	132	Q96MI9	CBPC4_HUMAN	K	161;132	ENSP00000397173:N132K	ENSP00000397173:N132K	N	+	3	2	AGBL1	84591913	1.000000	0.71417	0.988000	0.46212	0.915000	0.54546	1.427000	0.34881	1.170000	0.42753	0.561000	0.74099	AAC		0.557	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		A	86790909	C	A	86790909	3	1	821	1	0	0	0	0	1	0	0	0	375	535	19	4	414	4	AGBL1	15	86790909	Missense_Mutation	SNP	C	TCGA-Y8-A8RY-01A-11D-A36X-10	37759605	86790909	15740483	60	49424											
ZNF689	115509	hgsc.bcm.edu	37	16	30616527	30616527	+	Silent	SNP	G	G	T			TCGA-Y8-A8RY-01A-11D-A36X-10	TCGA-Y8-A8RY-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fbd6df33-90cf-4c79-bf0c-9f5bd762c16f	7a66b4e5-8f59-4d6e-b6dc-58884cf787ff	g.chr16:30616527G>T	ENST00000287461.3	-	3	898	c.561C>A	c.(559-561)tcC>tcA	p.S187S	ZNF689_ENST00000566673.1_5'UTR|RP11-146F11.5_ENST00000563540.1_RNA	NM_138447.1	NP_612456.1	Q96CS4	ZN689_HUMAN	zinc finger protein 689	187					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)			GGGATGGATAGGAAAAGCGGC	0.587																																																0													71	75	74					16																	30616527		2197	4300	6497	SO:0001819	synonymous_variant	115509			BC014000	CCDS10686.1	16p11.2	2013-01-08			ENSG00000156853	ENSG00000156853		"Zinc fingers, C2H2-type", "-"	25173	protein-coding gene	gene with protein product							Standard	NM_138447		Approved	FLJ90415	uc031qvq.1	Q96CS4	OTTHUMG00000132415	ENST00000287461.3:c.561C>A	chr16.hg19:g.30616527G>T			Q658J5	Silent	SNP	ENST00000287461.3	hg19	CCDS10686.1																																																																																				0.587	ZNF689-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255552.1	NM_138447		T	30616527	G	T	30616527	2	4	821	1	0	0	0	0	0	0	0	1	18099	987	35	4		4	ZNF689	16	30616527	Silent	SNP	G	TCGA-Y8-A8RY-01A-11D-A36X-10		30616527	59738226	61	49425											
MYH1	4619	hgsc.bcm.edu	37	17	10404987	10404987	+	Missense_Mutation	SNP	A	A	T			TCGA-Y8-A8RY-01A-11D-A36X-10	TCGA-Y8-A8RY-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fbd6df33-90cf-4c79-bf0c-9f5bd762c16f	7a66b4e5-8f59-4d6e-b6dc-58884cf787ff	g.chr17:10404987A>T	ENST00000226207.5	-	26	3366	c.3272T>A	c.(3271-3273)aTg>aAg	p.M1091K	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	1091					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						CAGACCGCTCATTTCAAACTC	0.378																																																0													102	96	98					17																	10404987		2203	4299	6502	SO:0001583	missense	4619				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"Myosins / Myosin superfamily : Class II"	7567	protein-coding gene	gene with protein product	"myosin heavy chain IIx/d"	160730	"myosin, heavy polypeptide 1, skeletal muscle, adult"			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.3272T>A	chr17.hg19:g.10404987A>T	ENSP00000226207:p.Met1091Lys		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	hg19	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	A	16.68	3.189938	0.58017	.	.	ENSG00000109061	ENST00000226207	D	0.82893	-1.66	5.51	5.51	0.81932	Myosin tail (1);	0.122232	0.36519	U	0.002544	D	0.84306	0.5443	M	0.81239	2.535	0.58432	D	0.999997	B	0.09022	0.002	B	0.09377	0.004	T	0.82299	-0.0526	10	0.72032	D	0.01	.	15.9255	0.79611	1.0:0.0:0.0:0.0	.	1091	P12882	MYH1_HUMAN	K	1091	ENSP00000226207:M1091K	ENSP00000226207:M1091K	M	-	2	0	MYH1	10345712	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.129000	0.71657	2.221000	0.72209	0.528000	0.53228	ATG		0.378	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		T	10404987	A	T	10404987	3	4	821	1	0	0	0	0	1	0	0	0	10031	217	8	5	2607	5	MYH1	17	10404987	Missense_Mutation	SNP	A	TCGA-Y8-A8RY-01A-11D-A36X-10		10404987	70790223	62	49426											
PHF12	57649	hgsc.bcm.edu	37	17	27251300	27251300	+	Silent	SNP	C	C	T	rs200428291		TCGA-Y8-A8RY-01A-11D-A36X-10	TCGA-Y8-A8RY-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fbd6df33-90cf-4c79-bf0c-9f5bd762c16f	7a66b4e5-8f59-4d6e-b6dc-58884cf787ff	g.chr17:27251300C>T	ENST00000332830.4	-	4	1152	c.342G>A	c.(340-342)gaG>gaA	p.E114E	PHF12_ENST00000268756.3_Silent_p.E114E|RP11-20B24.5_ENST00000582631.1_RNA|PHF12_ENST00000577226.1_Silent_p.E114E|RP11-20B24.5_ENST00000580782.1_RNA|PHF12_ENST00000582655.1_5'UTR	NM_001033561.1	NP_001028733.1			PHD finger protein 12											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			CATGACCCAGCTCCTTTTTCT	0.488																																																0													169	138	149					17																	27251300		2203	4300	6503	SO:0001819	synonymous_variant	57649			AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"Zinc fingers, PHD-type"	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.342G>A	chr17.hg19:g.27251300C>T				Silent	SNP	ENST00000332830.4	hg19	CCDS32598.1																																																																																				0.488	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255941.1	NM_020889		T	27251300	C	T	27251300	2	4	821	1	0	0	0	0	0	0	0	1	11825	796	28	2		2	PHF12	17	27251300	Silent	SNP	C	TCGA-Y8-A8RY-01A-11D-A36X-10	16846313	27251300	53943910	63	49427											
NBR1	4077	hgsc.bcm.edu	37	17	41341718	41341718	+	Silent	SNP	T	T	C			TCGA-Y8-A8RY-01A-11D-A36X-10	TCGA-Y8-A8RY-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fbd6df33-90cf-4c79-bf0c-9f5bd762c16f	7a66b4e5-8f59-4d6e-b6dc-58884cf787ff	g.chr17:41341718T>C	ENST00000422280.1	+	8	1053	c.594T>C	c.(592-594)ccT>ccC	p.P198P	NBR1_ENST00000341165.6_Silent_p.P198P|NBR1_ENST00000589872.1_Silent_p.P198P|NBR1_ENST00000542611.1_Silent_p.P177P|NBR1_ENST00000590996.1_Silent_p.P198P|NBR1_ENST00000389312.4_Silent_p.P198P	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	198					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)		TCTCAATGCCTACTTCAGAAG	0.438																																																0													141	135	137					17																	41341718		1864	4098	5962	SO:0001819	synonymous_variant	4077			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.594T>C	chr17.hg19:g.41341718T>C			Q13173|Q15026|Q5J7Q8|Q96GB6|Q9NRF7	Silent	SNP	ENST00000422280.1	hg19	CCDS45694.1																																																																																				0.438	NBR1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453461.1	NM_005899		C	41341718	T	C	41341718	2	2	821	1	0	0	0	0	0	0	0	1	10202	1509	53	3		3	NBR1	17	41341718	Silent	SNP	T	TCGA-Y8-A8RY-01A-11D-A36X-10	14090418	41341718	39853492	64	49428											
SLC4A1	6521	hgsc.bcm.edu	37	17	42335164	42335164	+	Missense_Mutation	SNP	G	G	A	rs373768879		TCGA-Y8-A8RY-01A-11D-A36X-10	TCGA-Y8-A8RY-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fbd6df33-90cf-4c79-bf0c-9f5bd762c16f	7a66b4e5-8f59-4d6e-b6dc-58884cf787ff	g.chr17:42335164G>A	ENST00000262418.6	-	12	1449	c.1294C>T	c.(1294-1296)Cgg>Tgg	p.R432W	AC003043.1_ENST00000597382.1_5'Flank|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)	432	Membrane (anion exchange).		R -> W (in ELO antigen).		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)		ATCTGGTTCCGGGTCTTTTCT	0.587																																																0			GRCh37	CM983769	SLC4A1	M		G	TRP/ARG	0,4406		0,0,2203	76	70	72		1294	-11.1	0	17		72	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC4A1	NM_000342.3	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	432/912	42335164	1,13005	2203	4300	6503	SO:0001583	missense	6521				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.1294C>T	chr17.hg19:g.42335164G>A	ENSP00000262418:p.Arg432Trp		G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Missense_Mutation	SNP	ENST00000262418.6	hg19	CCDS11481.1	.	.	.	.	.	.	.	.	.	.	g	9.617	1.132909	0.21041	0.0	1.16E-4	ENSG00000004939	ENST00000262418	T	0.79554	-1.28	5.57	-11.1	0.00147	Bicarbonate transporter, C-terminal (1);	1.964930	0.02322	N	0.073075	T	0.78616	0.4311	L	0.48642	1.525	0.09310	N	1	D;P	0.57571	0.98;0.903	P;P	0.56088	0.571;0.791	T	0.80233	-0.1467	10	0.87932	D	0	.	5.1981	0.15249	0.1499:0.4325:0.2322:0.1855	.	432;432	E2RVJ0;P02730	.;B3AT_HUMAN	W	432	ENSP00000262418:R432W	ENSP00000262418:R432W	R	-	1	2	SLC4A1	39690690	0.000000	0.05858	0.000000	0.03702	0.267000	0.26476	-2.027000	0.01433	-3.368000	0.00177	-2.455000	0.00206	CGG		0.587	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346194.1	NM_000342		A	42335164	G	A	42335164	3	1	821	1	0	0	0	0	1	0	0	0	14656	1115	39	1	1477	1	SLC4A1	17	42335164	Missense_Mutation	SNP	G	TCGA-Y8-A8RY-01A-11D-A36X-10	993446	42335164	38860046	65	49429											
MYL12B	103910	hgsc.bcm.edu	37	18	3272961	3272961	+	Frame_Shift_Del	DEL	T	T	-			TCGA-Y8-A8RY-01A-11D-A36X-10	TCGA-Y8-A8RY-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fbd6df33-90cf-4c79-bf0c-9f5bd762c16f	7a66b4e5-8f59-4d6e-b6dc-58884cf787ff	g.chr18:3272961delT	ENST00000581193.1	+	2	448	c.65delT	c.(64-66)gtgfs	p.V22fs	MYL12B_ENST00000584539.1_Frame_Shift_Del_p.V22fs|MYL12B_ENST00000237500.5_Frame_Shift_Del_p.V22fs|MYL12B_ENST00000400175.5_Frame_Shift_Del_p.V22fs	NM_001144945.1	NP_001138417.1	O14950	ML12B_HUMAN	myosin, light chain 12B, regulatory	22					axon guidance (GO:0007411)|muscle contraction (GO:0006936)|regulation of cell shape (GO:0008360)	apical part of cell (GO:0045177)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)			breast(1)|large_intestine(1)|lung(2)	4						ACATCCAATGTGTTTGCCATG	0.428																																																0													180	165	170					18																	3272961		2203	4300	6503	SO:0001589	frameshift_variant	103910			AY320408	CCDS11831.1	18p11.31	2013-01-10			ENSG00000118680	ENSG00000118680		"Myosins / Light chain", "EF-hand domain containing"	29827	protein-coding gene	gene with protein product	"myosin regulatory light chain 2"	609211				11942626	Standard	NM_033546		Approved	MRLC2	uc002klt.4	O14950	OTTHUMG00000131510	ENST00000581193.1:c.65delT	chr18.hg19:g.3272961delT	ENSP00000463559:p.Val22fs		D3DUH6|Q13182|Q7Z5Z4	Frame_Shift_Del	DEL	ENST00000581193.1	hg19	CCDS11831.1																																																																																				0.428	MYL12B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258908.1	NM_033546		-	3272961	T	-	3272961	7	5	821	1	0	1	0	1	0	0	0	0	10048	1696	59	0	67	0	MYL12B	18	3272961	Frame_Shift_Del	DEL	T	TCGA-Y8-A8RY-01A-11D-A36X-10		3272961	74804287	66	49430											
PSMG2	56984	hgsc.bcm.edu	37	18	12720515	12720515	+	Silent	SNP	C	C	T			TCGA-Y8-A8RY-01A-11D-A36X-10	TCGA-Y8-A8RY-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fbd6df33-90cf-4c79-bf0c-9f5bd762c16f	7a66b4e5-8f59-4d6e-b6dc-58884cf787ff	g.chr18:12720515C>T	ENST00000317615.6	+	5	1096	c.414C>T	c.(412-414)ccC>ccT	p.P138P	PSMG2_ENST00000590217.1_Silent_p.P138P|PSMG2_ENST00000585331.2_Silent_p.P107P	NM_020232.4	NP_064617.2			proteasome (prosome, macropain) assembly chaperone 2											lung(1)|prostate(2)|skin(1)	4						CTAGTACTCCCTTCCGGTACC	0.348																																																0													49	48	48					18																	12720515		2203	4299	6502	SO:0001819	synonymous_variant	56984			AF276707	CCDS11862.1, CCDS67440.1	18p11.21	2012-01-25	2007-10-23	2007-10-23	ENSG00000128789	ENSG00000128789			24929	protein-coding gene	gene with protein product	"hepatocellular carcinoma susceptibility protein", "CD40 ligand-activated specific transcript 3"	609702	"tumor necrosis factor superfamily, member 5-induced protein 1"	TNFSF5IP1		11854909, 12147697, 17189198	Standard	NM_147163		Approved	HCCA3, MDS003, MGC15092, CLAST3, HsT1707, PAC2	uc002krk.3	Q969U7	OTTHUMG00000131703	ENST00000317615.6:c.414C>T	chr18.hg19:g.12720515C>T				Silent	SNP	ENST00000317615.6	hg19	CCDS11862.1																																																																																				0.348	PSMG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254615.1	NM_020232		T	12720515	C	T	12720515	2	4	821	1	0	0	0	0	0	0	0	1	12717	668	24	2		2	PSMG2	18	12720515	Silent	SNP	C	TCGA-Y8-A8RY-01A-11D-A36X-10	9447554	12720515	65356733	67	49431											
DEFB116	245930	hgsc.bcm.edu	37	20	29891079	29891080	+	Missense_Mutation	DNP	TT	TT	CC			TCGA-Y8-A8RY-01A-11D-A36X-10	TCGA-Y8-A8RY-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fbd6df33-90cf-4c79-bf0c-9f5bd762c16f	7a66b4e5-8f59-4d6e-b6dc-58884cf787ff	g.chr20:29891079_29891080TT>CC	ENST00000400549.1	-	2	243_244	c.244_245AA>GG	c.(244-246)AAg>GGg	p.K82G		NM_001037731.1	NP_001032820.1	Q30KQ4	DB116_HUMAN	defensin, beta 116	82					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GTAATCCTCCTTCACATTTTTA	0.386																																																0																																										SO:0001583	missense	245930			DQ012020	CCDS42860.1	20q11.21	2008-07-17			ENSG00000215545	ENSG00000215545		"Defensins, beta"	18097	protein-coding gene	gene with protein product	"defensin, beta 16"					11854508, 16033865	Standard	NM_001037731		Approved	DEFB-16	uc010ztm.2	Q30KQ4	OTTHUMG00000159285	ENST00000400549.1:c.244_245delinsCC	chr20.hg19:g.29891079_29891080delinsCC	ENSP00000383396:p.Lys82Gly			Missense_Mutation	SNP	ENST00000400549.1	hg19	CCDS42860.1																																																																																				0.386	DEFB116-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354403.1	NM_001037731		CC	29891080	TT	CC	29891079	3	2	821	1	0	0	0	0	1	0	0	0	4407	1609	56	3	66	3	DEFB116	20	29891079	Missense_Mutation	DNP	TT	TCGA-Y8-A8RY-01A-11D-A36X-10		29891079	33134441	68	49432											
CBFA2T2	9139	hgsc.bcm.edu	37	20	32199106	32199106	+	Missense_Mutation	SNP	G	G	C			TCGA-Y8-A8RY-01A-11D-A36X-10	TCGA-Y8-A8RY-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fbd6df33-90cf-4c79-bf0c-9f5bd762c16f	7a66b4e5-8f59-4d6e-b6dc-58884cf787ff	g.chr20:32199106G>C	ENST00000346541.3	+	4	949	c.412G>C	c.(412-414)Ggg>Cgg	p.G138R	CBFA2T2_ENST00000375279.2_Missense_Mutation_p.G138R|CBFA2T2_ENST00000492345.1_Missense_Mutation_p.G109R|CBFA2T2_ENST00000342704.6_Missense_Mutation_p.G129R|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.G109R|CBFA2T2_ENST00000397798.2_Missense_Mutation_p.G109R|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.G148R|CBFA2T2_ENST00000344201.3_Missense_Mutation_p.G109R	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	138	TAFH. {ECO:0000255|PROSITE- ProRule:PRU00440}.				epithelial cell differentiation (GO:0030855)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						CCCTGAGATTGGGGAGAAGGT	0.507																																					Esophageal Squamous(174;142 1955 14837 21276 28041)											0													107	103	104					20																	32199106		2203	4300	6503	SO:0001583	missense	9139			AF052210	CCDS13221.1, CCDS46590.1	20q11	2007-01-29			ENSG00000078699	ENSG00000078699		"Zinc fingers, MYND-type"	1536	protein-coding gene	gene with protein product		603672				9790752	Standard	XM_006723886		Approved	MTGR1, ZMYND3	uc002wze.1	O43439	OTTHUMG00000032261	ENST00000346541.3:c.412G>C	chr20.hg19:g.32199106G>C	ENSP00000262653:p.Gly138Arg		B2RAE6|F8W6D7|Q5TGE4|Q5TGE5|Q5TGE6|Q5TGE7|Q8IWF3|Q96B06|Q96L00|Q9H436|Q9UJP8|Q9UJP9|Q9UP24	Missense_Mutation	SNP	ENST00000346541.3	hg19	CCDS13221.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.962319	0.92791	.	.	ENSG00000078699	ENST00000375279;ENST00000342704;ENST00000417366;ENST00000344201;ENST00000346541;ENST00000397800;ENST00000397798;ENST00000359606	T;T;T;T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83	5.69	5.69	0.88448	TAFH/NHR1 (3);	0.000000	0.85682	D	0.000000	T	0.71151	0.3306	M	0.74258	2.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.73248	-0.4043	10	0.87932	D	0	-8.4321	19.812	0.96551	0.0:0.0:1.0:0.0	.	138;129	O43439;F8W6D7	MTG8R_HUMAN;.	R	138;129;129;109;138;109;109;148	ENSP00000364428:G138R;ENSP00000345810:G129R;ENSP00000408352:G129R;ENSP00000341865:G109R;ENSP00000262653:G138R;ENSP00000380902:G109R;ENSP00000380900:G109R;ENSP00000352622:G148R	ENSP00000345810:G129R	G	+	1	0	CBFA2T2	31662767	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.685000	0.91497	0.655000	0.94253	GGG		0.507	CBFA2T2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078708.2	NM_001032999		C	32199106	G	C	32199106	3	2	821	1	0	0	0	0	1	0	0	0	2699	1348	47	4	460	4	CBFA2T2	20	32199106	Missense_Mutation	SNP	G	TCGA-Y8-A8RY-01A-11D-A36X-10	2308027	32199106	30826414	69	49433											
FAM123B	139285	hgsc.bcm.edu	37	X	63411064	63411064	+	Silent	SNP	C	C	G			TCGA-Y8-A8RY-01A-11D-A36X-10	TCGA-Y8-A8RY-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fbd6df33-90cf-4c79-bf0c-9f5bd762c16f	7a66b4e5-8f59-4d6e-b6dc-58884cf787ff	g.chrX:63411064C>G	ENST00000330258.3	-	2	2375	c.2103G>C	c.(2101-2103)ctG>ctC	p.L701L	AMER1_ENST00000403336.1_Silent_p.L701L|AMER1_ENST00000374869.3_Silent_p.L701L	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	701					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)									AACGCTTCTCCAGAGGACGGA	0.537																																																67	Whole gene deletion(67)	kidney(65)|ovary(1)|large_intestine(1)											52	46	48					X																	63411064		2203	4300	6503	SO:0001819	synonymous_variant	139285			AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"-"	26837	protein-coding gene	gene with protein product	"Wilms Tumor on the X", "adenomatous polyposis coli membrane recruitment 1"	300647	"family with sequence similarity 123B"	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.2103G>C	chrX.hg19:g.63411064C>G			A2IB86|Q8N885	Silent	SNP	ENST00000330258.3	hg19	CCDS14377.2																																																																																				0.537	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		G	63411064	C	G	63411064	2	3	821	1	0	0	0	0	0	0	0	1	5425	581	21	4		4	FAM123B	23	63411064	Silent	SNP	C	TCGA-Y8-A8RY-01A-11D-A36X-10		63411064	91859496	70	49434											
RPL36A	6173	hgsc.bcm.edu	37	X	100650416	100650416	+	Missense_Mutation	SNP	T	T	G			TCGA-Y8-A8RY-01A-11D-A36X-10	TCGA-Y8-A8RY-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fbd6df33-90cf-4c79-bf0c-9f5bd762c16f	7a66b4e5-8f59-4d6e-b6dc-58884cf787ff	g.chrX:100650416T>G	ENST00000553110.3	+	4	355	c.271T>G	c.(271-273)Ttt>Gtt	p.F91V	RPL36A_ENST00000471855.1_Missense_Mutation_p.F10V|RPL36A_ENST00000427805.2_Missense_Mutation_p.F127V|RPL36A-HNRNPH2_ENST00000409170.3_Missense_Mutation_p.I101M			P83881	RL36A_HUMAN	ribosomal protein L36a	91					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)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			liver(4)|lung(1)|prostate(1)	6						ATGCAAGCATTTTGAACTGGG	0.368																																																0													38	43	41					X																	100650416		1376	2562	3938	SO:0001583	missense	0			BC001781	CCDS14483.1, CCDS14483.2	Xq22.1	2011-04-06	2002-01-15	2002-01-18	ENSG00000241343	ENSG00000241343		"L ribosomal proteins"	10359	protein-coding gene	gene with protein product		300902	"ribosomal protein L44"	RPL44		3461443	Standard	NM_021029		Approved	L36A		P83881	OTTHUMG00000022027	ENST00000553110.3:c.271T>G	chrX.hg19:g.100650416T>G	ENSP00000446503:p.Phe91Val		P09896|P10661|Q08ES5|Q5J9I6	Missense_Mutation	SNP	ENST00000553110.3	hg19		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	24.2|24.2|24.2	4.502877|4.502877|4.502877	0.85176|0.85176|0.85176	.|.|.	.|.|.	ENSG00000241343|ENSG00000241343|ENSG00000257529	ENST00000392994|ENST00000427805;ENST00000553110|ENST00000409170	.|T;T|.	.|0.51817|.	.|0.69;0.69|.	5.35|5.35|5.35	5.35|5.35|5.35	0.76521|0.76521|0.76521	.|Ribosomal protein, zinc-binding domain (1);|.	0.000000|0.000000|.	0.64402|0.64402|.	U|U|.	0.000006|0.000006|.	T|T|T	0.72930|0.72930|0.72930	0.3522|0.3522|0.3522	M|M|M	0.72894|0.72894|0.72894	2.215|2.215|2.215	0.41580|0.41580|0.41580	D|D|D	0.988736|0.988736|0.988736	.|D|.	.|0.62365|.	.|0.991|.	.|D|.	.|0.65684|.	.|0.937|.	T|T|T	0.73943|0.73943|0.73943	-0.3823|-0.3823|-0.3823	6|10|5	.|0.49607|.	.|T|.	.|0.09|.	.|.|.	14.3765|14.3765|14.3765	0.66881|0.66881|0.66881	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.|.	.|91|.	.|P83881|.	.|RL36A_HUMAN|.	C|V|M	109|127;91|101	.|ENSP00000404375:F127V;ENSP00000446503:F91V|.	.|ENSP00000404375:F127V|.	F|F|I	+|+|+	2|1|3	0|0|3	RPL36A|RPL36A|RP1-164F3.9	100537072|100537072|100537072	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.997000|0.997000|0.997000	0.91878|0.91878|0.91878	7.651000|7.651000|7.651000	0.83577|0.83577|0.83577	1.773000|1.773000|1.773000	0.52216|0.52216|0.52216	0.486000|0.486000|0.486000	0.48141|0.48141|0.48141	TTT|TTT|ATT		0.368	RPL36A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021029		G	100650416	T	G	100650416	3	3	821	1	0	0	0	0	1	0	0	0	13593	1841	64	5	285	5	RPL36A	23	100650416	Missense_Mutation	SNP	T	TCGA-Y8-A8RY-01A-11D-A36X-10	37239352	100650416	54620144	71	49435											
ENOX2	10495	hgsc.bcm.edu	37	X	129822852	129822852	+	Missense_Mutation	SNP	A	A	G			TCGA-Y8-A8RY-01A-11D-A36X-10	TCGA-Y8-A8RY-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fbd6df33-90cf-4c79-bf0c-9f5bd762c16f	7a66b4e5-8f59-4d6e-b6dc-58884cf787ff	g.chrX:129822852A>G	ENST00000370927.1	-	3	346	c.325T>C	c.(325-327)Ttc>Ctc	p.F109L	ENOX2_ENST00000370935.1_Missense_Mutation_p.F80L|ENOX2_ENST00000492263.1_5'UTR|ENOX2_ENST00000394363.1_Missense_Mutation_p.F80L|ENOX2_ENST00000338144.3_Missense_Mutation_p.F109L			Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	109	Pro-rich.				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						TTTGGAGGGAAGAGCGTGCAG	0.388																																					Ovarian(101;828 1506 2951 9500 35258)											0													262	216	232					X																	129822852		2203	4300	6503	SO:0001583	missense	10495			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.325T>C	chrX.hg19:g.129822852A>G	ENSP00000359965:p.Phe109Leu		A8K197|A8K1C2|Q5VTJ1|Q5VTJ2|Q8WUX0|Q9NTP6|Q9UH82	Missense_Mutation	SNP	ENST00000370927.1	hg19	CCDS14626.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.491368	0.84962	.	.	ENSG00000165675	ENST00000538435;ENST00000370935;ENST00000338144;ENST00000394363;ENST00000350369;ENST00000370927;ENST00000432489	T;T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72;-0.72	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.81536	0.4843	M	0.73217	2.22	0.54753	D	0.999983	D	0.71674	0.998	D	0.79784	0.993	T	0.82112	-0.0618	9	.	.	.	-10.6533	11.7235	0.51696	1.0:0.0:0.0:0.0	.	109	Q16206	ENOX2_HUMAN	L	80;80;109;80;137;109;80	ENSP00000359973:F80L;ENSP00000337146:F109L;ENSP00000377890:F80L;ENSP00000359965:F109L;ENSP00000400304:F80L	.	F	-	1	0	ENOX2	129650533	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.761000	0.91691	1.897000	0.54924	0.417000	0.27973	TTC		0.388	ENOX2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058277.1	NM_182314		G	129822852	A	G	129822852	3	3	821	1	0	0	0	0	1	0	0	0	5129	72	3	3	1551	3	ENOX2	23	129822852	Missense_Mutation	SNP	A	TCGA-Y8-A8RY-01A-11D-A36X-10	29172436	129822852	25447708	72	49436											
SPEN	23013	hgsc.bcm.edu	37	1	16265370	16265370	+	Splice_Site	SNP	A	A	G			TCGA-Y8-A8RZ-01A-11D-A36X-10	TCGA-Y8-A8RZ-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	63f0d3c3-071e-44c7-863d-72f0242c5b93	2a0d89df-334c-4d21-ad1d-0040556032a0	g.chr1:16265370A>G	ENST00000375759.3	+	14	11066	c.10862A>G	c.(10861-10863)cAg>cGg	p.Q3621R		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3621	SPOC. {ECO:0000255|PROSITE- ProRule:PRU00249}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GGCTCCAATCAGGTCGGTTGT	0.587																																																0													150	113	126					1																	16265370		2203	4300	6503	SO:0001630	splice_region_variant	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.10863+1A>G	chr1.hg19:g.16265370A>G			Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	hg19	CCDS164.1	.	.	.	.	.	.	.	.	.	.	A	16.43	3.121904	0.56613	.	.	ENSG00000065526	ENST00000375759	T	0.11169	2.8	5.62	5.62	0.85841	Spen Paralogue and Orthologue SPOC, C-terminal-like (2);Spen paralogue/orthologue C-terminal, metazoa (1);Spen paralogue and orthologue SPOC, C-terminal (1);	.	.	.	.	T	0.22742	0.0549	M	0.65498	2.005	0.58432	D	0.999991	P	0.35628	0.513	P	0.45406	0.479	T	0.00717	-1.1596	9	0.48119	T	0.1	-17.7469	15.807	0.78520	1.0:0.0:0.0:0.0	.	3621	Q96T58	MINT_HUMAN	R	3621	ENSP00000364912:Q3621R	ENSP00000364912:Q3621R	Q	+	2	0	SPEN	16137957	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	8.904000	0.92590	2.128000	0.65567	0.533000	0.62120	CAG		0.587	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001	Missense_Mutation	G	16265370	A	G	16265370	5	3	822	1	0	0	0	0	0	0	1	0	15043	202	7	3	10916	3	SPEN	1	16265370	Splice_Site	SNP	A	TCGA-Y8-A8RZ-01A-11D-A36X-10		16265370	232985251	1	49437											
CDCA8	55143	hgsc.bcm.edu	37	1	38158699	38158699	+	Missense_Mutation	SNP	T	T	C			TCGA-Y8-A8RZ-01A-11D-A36X-10	TCGA-Y8-A8RZ-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	63f0d3c3-071e-44c7-863d-72f0242c5b93	2a0d89df-334c-4d21-ad1d-0040556032a0	g.chr1:38158699T>C	ENST00000373055.1	+	2	490	c.217T>C	c.(217-219)Tac>Cac	p.Y73H	C1orf109_ENST00000464085.1_5'Flank|CDCA8_ENST00000327331.2_Missense_Mutation_p.Y73H|C1orf109_ENST00000358011.4_5'Flank	NM_001256875.1|NM_018101.3	NP_001243804.1|NP_060571.1	Q53HL2	BOREA_HUMAN	cell division cycle associated 8	73	Required for centromere localization.|Required for interaction with INCENP and BIRC5.|Required for interaction with SENP3.|Required to form a minimal CPC core complex that localizes to the central spindle and midbody and properly executes the role of the CPC during cytokinesis.				chromosome organization (GO:0051276)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)	chromocenter (GO:0010369)|chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(1)|stomach(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTGGCTTGACTACTTCGGTAA	0.567																																																0													48	49	49					1																	38158699		2203	4300	6503	SO:0001583	missense	55143			BG354581	CCDS424.1	1p34.3	2013-01-17			ENSG00000134690	ENSG00000134690			14629	protein-coding gene	gene with protein product	"borealin"	609977				12188893, 15260989	Standard	NM_001256875		Approved	FLJ12042, MESRGP, BOR, DasraB	uc001cbs.4	Q53HL2	OTTHUMG00000004320	ENST00000373055.1:c.217T>C	chr1.hg19:g.38158699T>C	ENSP00000362146:p.Tyr73His		D3DPT4|Q53HN1|Q96AM3|Q9NVW5	Missense_Mutation	SNP	ENST00000373055.1	hg19	CCDS424.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.168750	0.78339	.	.	ENSG00000134690	ENST00000373055;ENST00000327331	T;T	0.48201	0.82;0.82	5.92	5.92	0.95590	Borealin-like, N-terminal (1);	0.442552	0.26658	N	0.023175	T	0.55016	0.1894	L	0.42245	1.32	0.42852	D	0.994089	P	0.45569	0.861	P	0.56042	0.79	T	0.53121	-0.8483	10	0.39692	T	0.17	-4.406	12.7362	0.57225	0.0:0.0:0.0:1.0	.	73	Q53HL2	BOREA_HUMAN	H	73	ENSP00000362146:Y73H;ENSP00000316121:Y73H	ENSP00000316121:Y73H	Y	+	1	0	CDCA8	37931286	0.997000	0.39634	0.999000	0.59377	0.989000	0.77384	2.888000	0.48594	2.265000	0.75225	0.533000	0.62120	TAC		0.567	CDCA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012473.1	NM_018101		C	38158699	T	C	38158699	3	2	822	1	0	0	0	0	1	0	0	0	3094	1522	53	3	223	3	CDCA8	1	38158699	Missense_Mutation	SNP	T	TCGA-Y8-A8RZ-01A-11D-A36X-10	21893329	38158699	211091922	2	49438											
ARHGAP29	9411	hgsc.bcm.edu	37	1	94639617	94639617	+	Silent	SNP	G	G	T			TCGA-Y8-A8RZ-01A-11D-A36X-10	TCGA-Y8-A8RZ-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	63f0d3c3-071e-44c7-863d-72f0242c5b93	2a0d89df-334c-4d21-ad1d-0040556032a0	g.chr1:94639617G>T	ENST00000260526.6	-	23	3776	c.3594C>A	c.(3592-3594)ccC>ccA	p.P1198P	ARHGAP29_ENST00000482481.1_5'Flank	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	1198					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)		CGAGACCGTGGGGATCGTGAT	0.527																																																0													85	76	79					1																	94639617		2203	4300	6503	SO:0001819	synonymous_variant	9411				CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"Rho GTPase activating proteins"	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.3594C>A	chr1.hg19:g.94639617G>T			O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Silent	SNP	ENST00000260526.6	hg19	CCDS748.1																																																																																				0.527	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	NM_004815		T	94639617	G	T	94639617	2	4	822	1	0	0	0	0	0	0	0	1	878	1219	43	4		4	ARHGAP29	1	94639617	Silent	SNP	G	TCGA-Y8-A8RZ-01A-11D-A36X-10	56480918	94639617	154611004	3	49439											
BNIPL	149428	hgsc.bcm.edu	37	1	151011013	151011013	+	Silent	SNP	T	T	C			TCGA-Y8-A8RZ-01A-11D-A36X-10	TCGA-Y8-A8RZ-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	63f0d3c3-071e-44c7-863d-72f0242c5b93	2a0d89df-334c-4d21-ad1d-0040556032a0	g.chr1:151011013T>C	ENST00000368931.3	+	3	327	c.171T>C	c.(169-171)gaT>gaC	p.D57D	BNIPL_ENST00000295294.7_5'UTR	NM_138278.3	NP_612122.2	Q7Z465	BNIPL_HUMAN	BCL2/adenovirus E1B 19kD interacting protein like	57					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|regulation of growth rate (GO:0040009)	cytosol (GO:0005829)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			autonomic_ganglia(1)|endometrium(3)|large_intestine(1)|lung(4)|skin(1)	10	Lung SC(34;0.00471)|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)			CTTCTGAAGATCCTGAAGACC	0.473																																																0													106	102	103					1																	151011013		1884	4122	6006	SO:0001819	synonymous_variant	149428			AF193056	CCDS978.2, CCDS53362.1	1q21.2	2008-02-05			ENSG00000163141	ENSG00000163141			16976	protein-coding gene	gene with protein product		611275				12681488, 11741952	Standard	NM_138278		Approved	BNIPl-1, BNIPL-2, PP753	uc001ewl.2	Q7Z465	OTTHUMG00000035157	ENST00000368931.3:c.171T>C	chr1.hg19:g.151011013T>C			Q6DK43|Q8TCY7|Q8WYG2	Silent	SNP	ENST00000368931.3	hg19	CCDS978.2																																																																																				0.473	BNIPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085092.1	NM_138279		C	151011013	T	C	151011013	2	2	822	1	0	0	0	0	0	0	0	1	1480	1432	50	3		3	BNIPL	1	151011013	Silent	SNP	T	TCGA-Y8-A8RZ-01A-11D-A36X-10	56371396	151011013	98239608	4	49440											
CLK2	1196	hgsc.bcm.edu	37	1	155238100	155238100	+	Missense_Mutation	SNP	A	A	G			TCGA-Y8-A8RZ-01A-11D-A36X-10	TCGA-Y8-A8RZ-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	63f0d3c3-071e-44c7-863d-72f0242c5b93	2a0d89df-334c-4d21-ad1d-0040556032a0	g.chr1:155238100A>G	ENST00000368361.4	-	5	853	c.538T>C	c.(538-540)Tgt>Cgt	p.C180R	CLK2_ENST00000361168.5_Missense_Mutation_p.C179R|CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000536801.1_Missense_Mutation_p.C180R|CLK2_ENST00000355560.4_Missense_Mutation_p.C178R			P49760	CLK2_HUMAN	CDC-like kinase 2	180	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			TGGTCAACACATTGTACAACT	0.507								Other conserved DNA damage response genes																																								0													72	69	70					1																	155238100		2203	4300	6503	SO:0001583	missense	1196			L29218	CCDS1107.1, CCDS72939.1	1q21	2008-05-02			ENSG00000176444	ENSG00000176444		"CDC-like kinases"	2069	protein-coding gene	gene with protein product		602989				7990150, 9856501	Standard	XM_005244876		Approved	clk2	uc001fjw.3	P49760	OTTHUMG00000035873	ENST00000368361.4:c.538T>C	chr1.hg19:g.155238100A>G	ENSP00000357345:p.Cys180Arg		B1AVS9|B5MBX6|Q96CQ0	Missense_Mutation	SNP	ENST00000368361.4	hg19		.	.	.	.	.	.	.	.	.	.	.	17.70	3.453811	0.63290	.	.	ENSG00000176444	ENST00000361168;ENST00000368361;ENST00000355560;ENST00000536801	T;T;T;T	0.20881	2.04;2.04;2.04;2.04	5.41	5.41	0.78517	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	0.46521	0.1397	M	0.90309	3.105	0.80722	D	1	D;D	0.89917	1.0;0.993	D;D	0.83275	0.996;0.962	T	0.58086	-0.7698	10	0.87932	D	0	.	14.4034	0.67065	1.0:0.0:0.0:0.0	.	180;179	P49760;P49760-3	CLK2_HUMAN;.	R	179;180;178;180	ENSP00000354856:C179R;ENSP00000357345:C180R;ENSP00000347759:C178R;ENSP00000441023:C180R	ENSP00000347759:C178R	C	-	1	0	CLK2	153504724	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.326000	0.79133	2.271000	0.75665	0.459000	0.35465	TGT		0.507	CLK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000087391.1	NM_003993		G	155238100	A	G	155238100	3	3	822	1	0	0	0	0	1	0	0	0	3539	217	8	3	997	3	CLK2	1	155238100	Missense_Mutation	SNP	A	TCGA-Y8-A8RZ-01A-11D-A36X-10	4227087	155238100	94012521	5	49441											
BIRC6	57448	hgsc.bcm.edu	37	2	32702603	32702603	+	Silent	SNP	C	C	A			TCGA-Y8-A8RZ-01A-11D-A36X-10	TCGA-Y8-A8RZ-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	63f0d3c3-071e-44c7-863d-72f0242c5b93	2a0d89df-334c-4d21-ad1d-0040556032a0	g.chr2:32702603C>A	ENST00000421745.2	+	35	7154	c.7020C>A	c.(7018-7020)ctC>ctA	p.L2340L		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2340					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)					TGTTTCTTCTCTCCATGGACT	0.423																																					Pancreas(94;175 1509 16028 18060 45422)											0													146	121	129					2																	32702603		2203	4300	6503	SO:0001819	synonymous_variant	57448			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"Baculoviral IAP repeat containing", "Ubiquitin-conjugating enzymes E2"	13516	protein-coding gene	gene with protein product	"apollon"	605638	"baculoviral IAP repeat-containing 6"			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.7020C>A	chr2.hg19:g.32702603C>A			Q9ULD1	Silent	SNP	ENST00000421745.2	hg19	CCDS33175.2																																																																																				0.423	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		A	32702603	C	A	32702603	2	1	822	1	0	0	0	0	0	0	0	1	1438	900	32	4		4	BIRC6	2	32702603	Silent	SNP	C	TCGA-Y8-A8RZ-01A-11D-A36X-10		32702603	210496770	6	49442											
TCF7L1	83439	hgsc.bcm.edu	37	2	85533645	85533645	+	Missense_Mutation	SNP	C	C	T			TCGA-Y8-A8RZ-01A-11D-A36X-10	TCGA-Y8-A8RZ-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	63f0d3c3-071e-44c7-863d-72f0242c5b93	2a0d89df-334c-4d21-ad1d-0040556032a0	g.chr2:85533645C>T	ENST00000282111.3	+	10	1495	c.1220C>T	c.(1219-1221)tCg>tTg	p.S407L		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	407					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						CAGCTTCACTCGCAGCTCTAC	0.602																																																0													56	53	54					2																	85533645		2203	4300	6503	SO:0001583	missense	83439			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.1220C>T	chr2.hg19:g.85533645C>T	ENSP00000282111:p.Ser407Leu		Q53R97|Q6PD70|Q9NP00	Missense_Mutation	SNP	ENST00000282111.3	hg19	CCDS1971.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.327451	0.81690	.	.	ENSG00000152284	ENST00000282111	D	0.97870	-4.58	4.74	3.87	0.44632	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.055635	0.85682	D	0.000000	D	0.95586	0.8565	N	0.03999	-0.3	0.43683	D	0.996123	D	0.76494	0.999	D	0.67382	0.951	D	0.95575	0.8641	10	0.66056	D	0.02	.	10.6733	0.45770	0.0:0.9072:0.0:0.0928	.	407	Q9HCS4	TF7L1_HUMAN	L	407	ENSP00000282111:S407L	ENSP00000282111:S407L	S	+	2	0	TCF7L1	85387156	0.900000	0.30661	0.960000	0.40013	0.866000	0.49608	2.024000	0.41049	1.228000	0.43614	-0.245000	0.11935	TCG		0.602	TCF7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252301.2	NM_031283		T	85533645	C	T	85533645	3	4	822	1	0	0	0	0	1	0	0	0	15702	893	31	1	1258	1	TCF7L1	2	85533645	Missense_Mutation	SNP	C	TCGA-Y8-A8RZ-01A-11D-A36X-10	52831042	85533645	157665728	7	49443											
CUL3	8452	hgsc.bcm.edu	37	2	225378239	225378239	+	Splice_Site	SNP	A	A	G			TCGA-Y8-A8RZ-01A-11D-A36X-10	TCGA-Y8-A8RZ-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	63f0d3c3-071e-44c7-863d-72f0242c5b93	2a0d89df-334c-4d21-ad1d-0040556032a0	g.chr2:225378239A>G	ENST00000264414.4	-	5	993		c.e5+1		CUL3_ENST00000409096.1_Splice_Site|CUL3_ENST00000409777.1_Splice_Site|CUL3_ENST00000344951.4_Splice_Site|CUL3_ENST00000432260.2_5'Flank	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3						cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TTCACGGATTACCTGAAAAAA	0.299																																																0													45	48	47					2																	225378239		2202	4299	6501	SO:0001630	splice_region_variant	8452			U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.654+1T>C	chr2.hg19:g.225378239A>G			A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Splice_Site	SNP	ENST00000264414.4	hg19	CCDS2462.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.302813	0.81136	.	.	ENSG00000036257	ENST00000264414;ENST00000344951;ENST00000409096;ENST00000409777	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1491	0.81599	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CUL3	225086483	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	8.681000	0.91228	2.227000	0.72691	0.524000	0.50904	.		0.299	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256871.2		Intron	G	225378239	A	G	225378239	5	3	822	1	0	0	0	0	0	0	1	0	4058	405	14	3	1698	3	CUL3	2	225378239	Splice_Site	SNP	A	TCGA-Y8-A8RZ-01A-11D-A36X-10	139844594	225378239	17821134	8	49444											
RBM15B	29890	hgsc.bcm.edu	37	3	51430385	51430385	+	Missense_Mutation	SNP	C	C	G			TCGA-Y8-A8RZ-01A-11D-A36X-10	TCGA-Y8-A8RZ-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	63f0d3c3-071e-44c7-863d-72f0242c5b93	2a0d89df-334c-4d21-ad1d-0040556032a0	g.chr3:51430385C>G	ENST00000323686.4	+	1	1655	c.1555C>G	c.(1555-1557)Cgg>Ggg	p.R519G		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	519					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TGGATACACCCGGCACCGCAA	0.612																																																0													48	54	52					3																	51430385		2203	4300	6503	SO:0001583	missense	29890			AL831838	CCDS33764.1	3p21.1	2013-02-12			ENSG00000179837	ENSG00000259956		"RNA binding motif (RRM) containing"	24303	protein-coding gene	gene with protein product		612602				16129689	Standard	NM_013286		Approved	HUMAGCGB, OTT3	uc003dbd.3	Q8NDT2	OTTHUMG00000156896	ENST00000323686.4:c.1555C>G	chr3.hg19:g.51430385C>G	ENSP00000313890:p.Arg519Gly		A4QPG7|Q6QE19|Q9BV96	Missense_Mutation	SNP	ENST00000323686.4	hg19	CCDS33764.1	.	.	.	.	.	.	.	.	.	.	C	11.60	1.685730	0.29962	.	.	ENSG00000179837	ENST00000323686;ENST00000541145	T	0.16073	2.37	5.55	3.56	0.40772	.	.	.	.	.	T	0.24967	0.0606	L	0.46157	1.445	0.47862	D	0.999532	D	0.60575	0.988	P	0.54100	0.742	T	0.01762	-1.1279	9	0.28530	T	0.3	-18.1931	13.5402	0.61671	0.4569:0.5431:0.0:0.0	.	519	Q8NDT2	RB15B_HUMAN	G	519;192	ENSP00000313890:R519G	ENSP00000313890:R519G	R	+	1	2	RBM15B	51405425	0.998000	0.40836	0.948000	0.38648	0.889000	0.51656	3.085000	0.50151	1.314000	0.45095	0.655000	0.94253	CGG		0.612	RBM15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346489.1	NM_013286		G	51430385	C	G	51430385	3	3	822	1	0	0	0	0	1	0	0	0	13123	643	23	4	1557	4	RBM15B	3	51430385	Missense_Mutation	SNP	C	TCGA-Y8-A8RZ-01A-11D-A36X-10		51430385	146592045	9	49445											
BAP1	8314	hgsc.bcm.edu	37	3	52437846	52437846	+	Missense_Mutation	SNP	C	C	A			TCGA-Y8-A8RZ-01A-11D-A36X-10	TCGA-Y8-A8RZ-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	63f0d3c3-071e-44c7-863d-72f0242c5b93	2a0d89df-334c-4d21-ad1d-0040556032a0	g.chr3:52437846C>A	ENST00000460680.1	-	13	1786	c.1315G>T	c.(1315-1317)Gtg>Ttg	p.V439L	BAP1_ENST00000296288.5_Missense_Mutation_p.V421L	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		GGCTGCAGCACTGACAGTTGC	0.567			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"																															GBM(101;493 1458 7992 21037 25532)		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	0													101	103	103					3																	52437846		2203	4300	6503	SO:0001583	missense	8314			AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.1315G>T	chr3.hg19:g.52437846C>A	ENSP00000417132:p.Val439Leu		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Missense_Mutation	SNP	ENST00000460680.1	hg19	CCDS2853.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.198|3.198	-0.164260|-0.164260	0.06502|0.06502	.|.	.|.	ENSG00000163930|ENSG00000163930	ENST00000469613|ENST00000460680;ENST00000296288	.|T;T	.|0.56444	.|0.47;0.46	6.05|6.05	6.05|6.05	0.98169|0.98169	.|Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (1);	.|0.126603	.|0.53938	.|D	.|0.000045	T|T	0.37705|0.37705	0.1013|0.1013	N|N	0.19112|0.19112	0.55|0.55	0.35702|0.35702	D|D	0.81573|0.81573	.|B	.|0.12013	.|0.005	.|B	.|0.10450	.|0.005	T|T	0.38564|0.38564	-0.9655|-0.9655	5|10	.|0.27785	.|T	.|0.31	.|.	13.0153|13.0153	0.58753|0.58753	0.0:0.9266:0.0:0.0734|0.0:0.9266:0.0:0.0734	.|.	.|439	.|Q92560	.|BAP1_HUMAN	H|L	30|439;421	.|ENSP00000417132:V439L;ENSP00000296288:V421L	.|ENSP00000296288:V421L	Q|V	-|-	3|1	2|0	BAP1|BAP1	52412886|52412886	0.781000|0.781000	0.28676|0.28676	1.000000|1.000000	0.80357|0.80357	0.886000|0.886000	0.51366|0.51366	1.300000|1.300000	0.33436|0.33436	2.880000|2.880000	0.98712|0.98712	0.655000|0.655000	0.94253|0.94253	CAG|GTG		0.567	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1			A	52437846	C	A	52437846	3	1	822	1	0	0	0	0	1	0	0	0	1311	565	20	4	894	4	BAP1	3	52437846	Missense_Mutation	SNP	C	TCGA-Y8-A8RZ-01A-11D-A36X-10	1007461	52437846	145584584	10	49446											
ROBO1	6091	hgsc.bcm.edu	37	3	78680444	78680444	+	Missense_Mutation	SNP	G	G	T			TCGA-Y8-A8RZ-01A-11D-A36X-10	TCGA-Y8-A8RZ-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	63f0d3c3-071e-44c7-863d-72f0242c5b93	2a0d89df-334c-4d21-ad1d-0040556032a0	g.chr3:78680444G>T	ENST00000464233.1	-	25	3606	c.3493C>A	c.(3493-3495)Cac>Aac	p.H1165N	ROBO1_ENST00000495273.1_Missense_Mutation_p.H1120N|ROBO1_ENST00000436010.2_Missense_Mutation_p.H1126N|ROBO1_ENST00000467549.1_Missense_Mutation_p.H1065N	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1165					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CCTTTCTTGTGCCCCTGACTC	0.443																																																0													139	138	138					3																	78680444		2034	4173	6207	SO:0001583	missense	6091			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10249	protein-coding gene	gene with protein product		602430	"roundabout (axon guidance receptor, Drosophila) homolog 1"			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.3493C>A	chr3.hg19:g.78680444G>T	ENSP00000420321:p.His1165Asn		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	hg19	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.366106	0.61513	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64	5.37	5.37	0.77165	.	0.092179	0.85682	D	0.000000	T	0.79511	0.4458	L	0.36672	1.1	0.58432	D	0.999992	B;B;B;B;B	0.33739	0.187;0.031;0.304;0.422;0.147	B;B;B;B;B	0.37422	0.152;0.032;0.139;0.078;0.249	T	0.75411	-0.3327	9	.	.	.	.	19.484	0.95022	0.0:0.0:1.0:0.0	.	1129;1165;1120;1065;1126	Q9Y6N7-3;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.;ROBO1_HUMAN;.;.;.	N	1126;1120;1165;1120;1065;1169	ENSP00000406043:H1126N;ENSP00000420321:H1165N;ENSP00000420637:H1120N;ENSP00000417992:H1065N	.	H	-	1	0	ROBO1	78763134	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	9.420000	0.97426	2.669000	0.90835	0.650000	0.86243	CAC		0.443	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		T	78680444	G	T	78680444	3	4	822	1	0	0	0	0	1	0	0	0	13519	1319	46	4	1490	4	ROBO1	3	78680444	Missense_Mutation	SNP	G	TCGA-Y8-A8RZ-01A-11D-A36X-10	26242598	78680444	119341986	11	49447											
GCET2	257144	hgsc.bcm.edu	37	3	111849299	111849306	+	Frame_Shift_Del	DEL	TTCTCTGT	TTCTCTGT	-			TCGA-Y8-A8RZ-01A-11D-A36X-10	TCGA-Y8-A8RZ-10A-01D-A370-10	TTCTCTGT	TTCTCTGT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	63f0d3c3-071e-44c7-863d-72f0242c5b93	2a0d89df-334c-4d21-ad1d-0040556032a0	g.chr3:111849299_111849306delTTCTCTGT	ENST00000308910.4	-	2	268_275	c.84_91delACAGAGAA	c.(82-93)aaacagagaacafs	p.KQRT28fs	GCSAM_ENST00000484193.1_Frame_Shift_Del_p.KQRT30fs|RP11-757F18.5_ENST00000563632.1_RNA|C3orf52_ENST00000467942.2_3'UTR	NM_001190259.1|NM_001190260.1|NM_152785.4	NP_001177188.1|NP_001177189.1|NP_689998.1	Q8N6F7	GCSAM_HUMAN	germinal center-associated, signaling and motility	28					negative regulation of lymphocyte migration (GO:2000402)|regulation of B cell receptor signaling pathway (GO:0050855)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|myosin II binding (GO:0045159)|protein kinase binding (GO:0019901)										CACCTGGATGTTCTCTGTTTGGGGCTTT	0.49																																																0																																										SO:0001589	frameshift_variant	257144			BC030506	CCDS2964.1, CCDS54621.1, CCDS54622.1	3q13.13	2012-09-03	2012-08-23	2012-08-23	ENSG00000174500	ENSG00000174500			20253	protein-coding gene	gene with protein product	"human germinal center-associated lymphoma"	607792	"germinal center expressed transcript 2"	GCET2			Standard	NM_152785		Approved	MGC40441, HGAL	uc021xcl.1	Q8N6F7	OTTHUMG00000159231	ENST00000308910.4:c.84_91delACAGAGAA	chr3.hg19:g.111849299_111849306delTTCTCTGT	ENSP00000309487:p.Lys28fs		C9JD17|C9JUG6	Frame_Shift_Del	DEL	ENST00000308910.4	hg19	CCDS2964.1																																																																																				0.49	GCSAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353967.2	NM_152785		-	111849306	TTCTCTGT	-	111849299	7	5	822	1	0	1	0	1	0	0	0	0	6290	1725	60	0	465	0	GCET2	3	111849299	Frame_Shift_Del	DEL	TTCTCTGT	TCGA-Y8-A8RZ-01A-11D-A36X-10	33168855	111849299	86173131	12	49448											
FOXL2	668	hgsc.bcm.edu	37	3	138664642	138664642	+	Missense_Mutation	SNP	G	G	C			TCGA-Y8-A8RZ-01A-11D-A36X-10	TCGA-Y8-A8RZ-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	63f0d3c3-071e-44c7-863d-72f0242c5b93	2a0d89df-334c-4d21-ad1d-0040556032a0	g.chr3:138664642G>C	ENST00000330315.3	-	1	1340	c.923C>G	c.(922-924)gCc>gGc	p.A308G	RP11-548O1.3_ENST00000495287.1_lincRNA|C3orf72_ENST00000383165.3_5'Flank	NM_023067.3	NP_075555.1	P58012	FOXL2_HUMAN	forkhead box L2	308					apoptotic DNA fragmentation (GO:0006309)|cell differentiation (GO:0030154)|embryonic eye morphogenesis (GO:0048048)|extraocular skeletal muscle development (GO:0002074)|female somatic sex determination (GO:0019101)|granulosa cell differentiation (GO:0060014)|menstruation (GO:0042703)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	cysteine-type endopeptidase regulator activity involved in apoptotic process (GO:0043028)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin conjugating enzyme binding (GO:0031624)			large_intestine(1)|lung(1)|ovary(333)|skin(1)	336						gtgcggtggggcaggcggcgg	0.836			Mis		granulosa-cell tumour of the ovary		"Blepharophimosis, ptosis and epicanthus inversus Types I, II; Premature ovarian failure type III"																																Dom	yes		3	3q23	668	forkhead box L2	yes	O	0													1	1	1					3																	138664642		130	327	457	SO:0001583	missense	668			AF301906	CCDS3105.1	3q23	2008-04-10			ENSG00000183770	ENSG00000183770		"Forkhead boxes"	1092	protein-coding gene	gene with protein product		605597		BPES		1941972	Standard	NM_023067		Approved	BPES1	uc003esw.3	P58012	OTTHUMG00000159889	ENST00000330315.3:c.923C>G	chr3.hg19:g.138664642G>C	ENSP00000333188:p.Ala308Gly		Q4ZGJ3	Missense_Mutation	SNP	ENST00000330315.3	hg19	CCDS3105.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.565020	0.27915	.	.	ENSG00000183770	ENST00000330315	D	0.94457	-3.43	3.31	-0.235	0.13071	.	0.588514	0.17202	U	0.183069	D	0.86079	0.5847	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.71632	-0.4534	10	0.22706	T	0.39	.	2.9753	0.05935	0.1129:0.1716:0.5406:0.1749	.	308	P58012	FOXL2_HUMAN	G	308	ENSP00000333188:A308G	ENSP00000333188:A308G	A	-	2	0	FOXL2	140147332	0.017000	0.18338	0.340000	0.25575	0.931000	0.56810	0.275000	0.18698	0.040000	0.15660	0.449000	0.29647	GCC		0.836	FOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357999.1			C	138664642	G	C	138664642	3	2	822	1	0	0	0	0	1	0	0	0	6019	1203	42	4	211	4	FOXL2	3	138664642	Missense_Mutation	SNP	G	TCGA-Y8-A8RZ-01A-11D-A36X-10	26815343	138664642	59357788	13	49449											
KIAA1530	57654	hgsc.bcm.edu	37	4	1379721	1379721	+	Nonsense_Mutation	SNP	C	C	A			TCGA-Y8-A8RZ-01A-11D-A36X-10	TCGA-Y8-A8RZ-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	63f0d3c3-071e-44c7-863d-72f0242c5b93	2a0d89df-334c-4d21-ad1d-0040556032a0	g.chr4:1379721C>A	ENST00000389851.4	+	14	2549	c.2102C>A	c.(2101-2103)tCa>tAa	p.S701*	UVSSA_ENST00000511216.1_Nonsense_Mutation_p.S701*|UVSSA_ENST00000507531.1_Nonsense_Mutation_p.S701*|UVSSA_ENST00000511563.1_Nonsense_Mutation_p.S252*|UVSSA_ENST00000512728.1_Nonsense_Mutation_p.S252*	NM_020894.2	NP_065945.2	Q2YD98	UVSSA_HUMAN	UV-stimulated scaffold protein A	701					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)										GAGAAGTTTTCAAACCAGTTT	0.572																																																0													150	122	131					4																	1379721		2203	4300	6503	SO:0001587	stop_gained	57654			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.2102C>A	chr4.hg19:g.1379721C>A	ENSP00000374501:p.Ser701*		A8K9E6|B2RU11|Q8WTX4|Q9P1Z8	Nonsense_Mutation	SNP	ENST00000389851.4	hg19	CCDS33938.1	.	.	.	.	.	.	.	.	.	.	C	40	8.268854	0.98735	.	.	ENSG00000163945	ENST00000511216;ENST00000389851;ENST00000507531;ENST00000511563;ENST00000512728	.	.	.	5.19	5.19	0.71726	.	0.111807	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	18.6999	0.91617	0.0:1.0:0.0:0.0	.	.	.	.	X	701;701;701;252;252	.	ENSP00000374501:S701X	S	+	2	0	KIAA1530	1369721	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.554000	0.73923	2.400000	0.81607	0.655000	0.94253	TCA		0.572	UVSSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359480.1	NM_020894		A	1379721	C	A	1379721	4	1	822	1	0	0	0	0	0	1	0	0	8243	838	29	4	2152	4	KIAA1530	4	1379721	Nonsense_Mutation	SNP	C	TCGA-Y8-A8RZ-01A-11D-A36X-10		1379721	189774555	14	49450											
RAP1GDS1	5910	hgsc.bcm.edu	37	4	99342409	99342409	+	Missense_Mutation	SNP	A	A	G			TCGA-Y8-A8RZ-01A-11D-A36X-10	TCGA-Y8-A8RZ-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	63f0d3c3-071e-44c7-863d-72f0242c5b93	2a0d89df-334c-4d21-ad1d-0040556032a0	g.chr4:99342409A>G	ENST00000408927.3	+	12	1417	c.1304A>G	c.(1303-1305)gAa>gGa	p.E435G	RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.E436G|RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.E344G|RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.E386G|RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.E387G|RAP1GDS1_ENST00000453712.2_Splice_Site_p.E435G	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	435					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)		CCTATAGCAGAAGCTGCTGAA	0.408			T	NUP98	T-ALL																																		Dom	yes		4	4q21-q25	5910	"RAP1, GTP-GDP dissociation stimulator 1"		L	0													111	105	107					4																	99342409		1919	4142	6061	SO:0001583	missense	5910				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.1304A>G	chr4.hg19:g.99342409A>G	ENSP00000386153:p.Glu435Gly		E9PH06|G5E9P9|Q499L7|Q4KMV2|Q4QQI8|Q9BUW9|Q9BUX6|Q9NYM2|Q9NZA8	Missense_Mutation	SNP	ENST00000408927.3	hg19	CCDS43253.1	.	.	.	.	.	.	.	.	.	.	A	33	5.194788	0.94960	.	.	ENSG00000138698	ENST00000380158;ENST00000264572;ENST00000408927;ENST00000453712;ENST00000408900;ENST00000339360	T;T;T;T;T;T	0.55052	2.85;2.85;2.85;0.54;2.85;2.85	5.79	5.79	0.91817	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.63153	0.2487	L	0.36672	1.1	0.80722	D	1	D;D;D;B;B;D	0.62365	0.991;0.989;0.981;0.073;0.342;0.983	P;D;D;B;B;P	0.72982	0.831;0.979;0.954;0.031;0.093;0.813	T	0.60281	-0.7294	10	0.33141	T	0.24	-18.4441	16.1415	0.81528	1.0:0.0:0.0:0.0	.	344;386;387;435;436;435	E9PH06;P52306-2;Q499L7;P52306;Q4QQI8;G5E9P9	.;.;.;GDS1_HUMAN;.;.	G	387;344;435;435;386;436	ENSP00000369503:E387G;ENSP00000264572:E344G;ENSP00000386153:E435G;ENSP00000407157:E435G;ENSP00000386223:E386G;ENSP00000340454:E436G	ENSP00000264572:E344G	E	+	2	0	RAP1GDS1	99561432	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.810000	0.91950	2.198000	0.70561	0.533000	0.62120	GAA		0.408	RAP1GDS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363273.2	NM_001100426		G	99342409	A	G	99342409	3	3	822	1	0	0	0	0	1	0	0	0	13045	260	9	3	1353	3	RAP1GDS1	4	99342409	Missense_Mutation	SNP	A	TCGA-Y8-A8RZ-01A-11D-A36X-10	97962688	99342409	91811867	15	49451											
KIAA1109	84162	hgsc.bcm.edu	37	4	123255556	123255556	+	Missense_Mutation	SNP	T	T	C			TCGA-Y8-A8RZ-01A-11D-A36X-10	TCGA-Y8-A8RZ-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	63f0d3c3-071e-44c7-863d-72f0242c5b93	2a0d89df-334c-4d21-ad1d-0040556032a0	g.chr4:123255556T>C	ENST00000264501.4	+	69	12077	c.11704T>C	c.(11704-11706)Tcc>Ccc	p.S3902P	KIAA1109_ENST00000388738.3_Missense_Mutation_p.S3902P			Q2LD37	K1109_HUMAN	KIAA1109	3902					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						CAGGGGATCTTCCTTGCCAAG	0.388																																																0													123	120	121					4																	123255556		1956	4147	6103	SO:0001583	missense	84162			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.11704T>C	chr4.hg19:g.123255556T>C	ENSP00000264501:p.Ser3902Pro		Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	hg19	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.408409	0.83340	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000438707	T;T;T	0.35605	2.32;2.32;1.3	5.21	5.21	0.72293	.	0.131937	0.52532	D	0.000067	T	0.53578	0.1805	L	0.50333	1.59	0.80722	D	1	D;D	0.69078	0.997;0.995	D;D	0.78314	0.991;0.979	T	0.50550	-0.8815	10	0.39692	T	0.17	.	15.3741	0.74590	0.0:0.0:0.0:1.0	.	3901;3902	Q2LD37-4;Q2LD37	.;K1109_HUMAN	P	3902;3902;606	ENSP00000264501:S3902P;ENSP00000373390:S3902P;ENSP00000410874:S606P	ENSP00000264501:S3902P	S	+	1	0	KIAA1109	123475006	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.997000	0.88414	2.097000	0.63578	0.454000	0.30748	TCC		0.388	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		C	123255556	T	C	123255556	3	2	822	1	0	0	0	0	1	0	0	0	8210	1783	62	3	11970	3	KIAA1109	4	123255556	Missense_Mutation	SNP	T	TCGA-Y8-A8RZ-01A-11D-A36X-10	23913147	123255556	67898720	16	49452											
STOX2	56977	hgsc.bcm.edu	37	4	184930877	184930877	+	Missense_Mutation	SNP	C	C	G			TCGA-Y8-A8RZ-01A-11D-A36X-10	TCGA-Y8-A8RZ-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	63f0d3c3-071e-44c7-863d-72f0242c5b93	2a0d89df-334c-4d21-ad1d-0040556032a0	g.chr4:184930877C>G	ENST00000308497.4	+	3	2321	c.886C>G	c.(886-888)Ccc>Gcc	p.P296A	STOX2_ENST00000438269.1_Missense_Mutation_p.P296A	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	296					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)		TGAAGAGTGGCCCCTGCGAGA	0.478																																																0													23	24	24					4																	184930877		1915	4136	6051	SO:0001583	missense	56977			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.886C>G	chr4.hg19:g.184930877C>G	ENSP00000311257:p.Pro296Ala		A6H8U4|Q9NPS8	Missense_Mutation	SNP	ENST00000308497.4	hg19	CCDS47167.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.348435	0.82132	.	.	ENSG00000173320	ENST00000308497;ENST00000438269	T;D	0.86694	-1.23;-2.16	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.93884	0.8043	M	0.78456	2.415	0.80722	D	1	D	0.69078	0.997	D	0.73380	0.98	D	0.93553	0.6888	10	0.87932	D	0	-25.0726	20.6634	0.99662	0.0:1.0:0.0:0.0	.	296	Q9P2F5	STOX2_HUMAN	A	296	ENSP00000311257:P296A;ENSP00000390127:P296A	ENSP00000311257:P296A	P	+	1	0	STOX2	185167871	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.818000	0.86416	2.894000	0.99253	0.655000	0.94253	CCC		0.478	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361433.3	NM_020225		G	184930877	C	G	184930877	3	3	822	1	0	0	0	0	1	0	0	0	15325	739	26	4	896	4	STOX2	4	184930877	Missense_Mutation	SNP	C	TCGA-Y8-A8RZ-01A-11D-A36X-10	61675321	184930877	6223399	17	49453											
ZFR	51663	hgsc.bcm.edu	37	5	32364329	32364329	+	Missense_Mutation	SNP	C	C	A			TCGA-Y8-A8RZ-01A-11D-A36X-10	TCGA-Y8-A8RZ-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	63f0d3c3-071e-44c7-863d-72f0242c5b93	2a0d89df-334c-4d21-ad1d-0040556032a0	g.chr5:32364329C>A	ENST00000265069.8	-	18	2990	c.2888G>T	c.(2887-2889)aGc>aTc	p.S963I	ZFR_ENST00000510369.1_5'UTR	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	963	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		ATCCCCAGGGCTCTGAGGGCT	0.348																																																0													83	86	85					5																	32364329		2203	4300	6503	SO:0001583	missense	51663			AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.2888G>T	chr5.hg19:g.32364329C>A	ENSP00000265069:p.Ser963Ile		B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Missense_Mutation	SNP	ENST00000265069.8	hg19	CCDS34139.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.027756	0.75390	.	.	ENSG00000056097	ENST00000265069;ENST00000382126	T	0.44482	0.92	5.74	5.74	0.90152	DZF (2);	0.000000	0.85682	D	0.000000	T	0.69251	0.3090	M	0.81112	2.525	0.80722	D	1	D;D	0.69078	0.997;0.996	D;D	0.83275	0.996;0.99	T	0.72110	-0.4389	10	0.87932	D	0	.	19.9357	0.97140	0.0:1.0:0.0:0.0	.	942;963	B5MEH6;Q96KR1	.;ZFR_HUMAN	I	963;942	ENSP00000265069:S963I	ENSP00000265069:S963I	S	-	2	0	ZFR	32400086	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.382000	0.79729	2.715000	0.92844	0.655000	0.94253	AGC		0.348	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1			A	32364329	C	A	32364329	3	1	822	1	0	0	0	0	1	0	0	0	17664	797	28	4	348	4	ZFR	5	32364329	Missense_Mutation	SNP	C	TCGA-Y8-A8RZ-01A-11D-A36X-10		32364329	148550931	18	49454											
C9	735	hgsc.bcm.edu	37	5	39364500	39364500	+	Missense_Mutation	SNP	A	A	G			TCGA-Y8-A8RZ-01A-11D-A36X-10	TCGA-Y8-A8RZ-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	63f0d3c3-071e-44c7-863d-72f0242c5b93	2a0d89df-334c-4d21-ad1d-0040556032a0	g.chr5:39364500A>G	ENST00000263408.4	-	1	162	c.67T>C	c.(67-69)Tac>Cac	p.Y23H	C9_ENST00000509186.1_Intron	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	23					complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|hemolysis by symbiont of host erythrocytes (GO:0019836)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane attack complex (GO:0005579)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			CTGGTCGTGTACTGTGCTGTG	0.488																																																0													108	97	100					5																	39364500		2203	4300	6503	SO:0001583	missense	735				CCDS3929.1	5p14-p12	2014-09-17			ENSG00000113600	ENSG00000113600		"Complement system"	1358	protein-coding gene	gene with protein product		120940					Standard	NM_001737		Approved		uc003jlv.4	P02748	OTTHUMG00000094767	ENST00000263408.4:c.67T>C	chr5.hg19:g.39364500A>G	ENSP00000263408:p.Tyr23His			Missense_Mutation	SNP	ENST00000263408.4	hg19	CCDS3929.1	.	.	.	.	.	.	.	.	.	.	A	3.190	-0.165949	0.06461	.	.	ENSG00000113600	ENST00000263408	T	0.30182	1.54	4.45	-2.14	0.07123	.	1.608480	0.03288	N	0.187176	T	0.14657	0.0354	N	0.08118	0	0.09310	N	1	B	0.26120	0.142	B	0.28139	0.086	T	0.13683	-1.0500	10	0.15499	T	0.54	-0.1471	4.7136	0.12884	0.5465:0.0:0.2939:0.1596	.	23	P02748	CO9_HUMAN	H	23	ENSP00000263408:Y23H	ENSP00000263408:Y23H	Y	-	1	0	C9	39400257	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.222000	0.02965	-0.430000	0.07318	-0.366000	0.07423	TAC		0.488	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211576.3			G	39364500	A	G	39364500	3	3	822	1	0	0	0	0	1	0	0	0	2445	391	14	3	1656	3	C9	5	39364500	Missense_Mutation	SNP	A	TCGA-Y8-A8RZ-01A-11D-A36X-10	7000171	39364500	141550760	19	49455											
FOXF2	2295	hgsc.bcm.edu	37	6	1390659	1390659	+	Missense_Mutation	SNP	C	C	G			TCGA-Y8-A8RZ-01A-11D-A36X-10	TCGA-Y8-A8RZ-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	63f0d3c3-071e-44c7-863d-72f0242c5b93	2a0d89df-334c-4d21-ad1d-0040556032a0	g.chr6:1390659C>G	ENST00000259806.1	+	1	591	c.477C>G	c.(475-477)atC>atG	p.I159M		NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN	forkhead box F2	159					embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|establishment of planar polarity of embryonic epithelium (GO:0042249)|extracellular matrix organization (GO:0030198)|genitalia development (GO:0048806)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	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)			large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		AGTGCTTCATCAAGCTGCCTA	0.657																																																0													47	55	53					6																	1390659		2203	4300	6503	SO:0001583	missense	2295			U13220	CCDS4472.1	6p25.3	2008-04-10			ENSG00000137273	ENSG00000137273		"Forkhead boxes"	3810	protein-coding gene	gene with protein product		603250		FKHL6		9799607, 7957066	Standard	NM_001452		Approved	FREAC2	uc003mtm.3	Q12947	OTTHUMG00000016243	ENST00000259806.1:c.477C>G	chr6.hg19:g.1390659C>G	ENSP00000259806:p.Ile159Met		Q5TGJ1|Q9UQ85	Missense_Mutation	SNP	ENST00000259806.1	hg19	CCDS4472.1	.	.	.	.	.	.	.	.	.	.	C	18.76	3.692590	0.68271	.	.	ENSG00000137273	ENST00000259806	D	0.95690	-3.78	4.53	4.53	0.55603	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.85682	D	0.000000	D	0.95560	0.8557	L	0.53617	1.68	0.58432	D	0.999998	D	0.71674	0.998	D	0.75020	0.985	D	0.95812	0.8842	10	0.72032	D	0.01	.	9.8127	0.40833	0.0:0.9032:0.0:0.0968	.	159	Q12947	FOXF2_HUMAN	M	159	ENSP00000259806:I159M	ENSP00000259806:I159M	I	+	3	3	FOXF2	1335658	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.881000	0.48538	2.106000	0.64143	0.536000	0.68110	ATC		0.657	FOXF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043558.1			G	1390659	C	G	1390659	3	3	822	1	0	0	0	0	1	0	0	0	6008	816	29	4	479	4	FOXF2	6	1390659	Missense_Mutation	SNP	C	TCGA-Y8-A8RZ-01A-11D-A36X-10		1390659	169724408	20	49456											
CFB	629	hgsc.bcm.edu	37	6	31916623	31916623	+	Silent	SNP	A	A	G			TCGA-Y8-A8RZ-01A-11D-A36X-10	TCGA-Y8-A8RZ-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	63f0d3c3-071e-44c7-863d-72f0242c5b93	2a0d89df-334c-4d21-ad1d-0040556032a0	g.chr6:31916623A>G	ENST00000425368.2	+	8	1566	c.1053A>G	c.(1051-1053)tcA>tcG	p.S351S	CFB_ENST00000477310.1_Silent_p.S702S|CFB_ENST00000556679.1_Silent_p.S853S|CFB_ENST00000497841.1_3'UTR|CFB_ENST00000456570.1_Silent_p.S853S	NM_001710.5	NP_001701.2	P00751	CFAB_HUMAN	complement factor B	351	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				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)|plasma membrane (GO:0005886)	complement binding (GO:0001848)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						AGTTGAAGTCAGGGACTAACA	0.542																																																0													123	110	115					6																	31916623		1510	2708	4218	SO:0001819	synonymous_variant	629			L15702	CCDS4729.1	6p21.33	2014-09-17	2006-02-10	2006-02-10	ENSG00000243649	ENSG00000243649	3.4.21.47	"Complement system"	1037	protein-coding gene	gene with protein product		138470	"B-factor, properdin"	BFD, BF			Standard	NM_001710		Approved	H2-Bf	uc011dor.2	P00751	OTTHUMG00000031198	ENST00000425368.2:c.1053A>G	chr6.hg19:g.31916623A>G			B0QZQ6|O15006|Q29944|Q53F89|Q5JP67|Q5ST50|Q96HX6|Q9BTF5|Q9BX92	Silent	SNP	ENST00000425368.2	hg19	CCDS4729.1																																																																																				0.542	CFB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076395.3	NM_001710		G	31916623	A	G	31916623	2	3	822	1	0	0	0	0	0	0	0	1	3280	175	7	3		3	CFB	6	31916623	Silent	SNP	A	TCGA-Y8-A8RZ-01A-11D-A36X-10	30525964	31916623	139198444	21	49457											
TAF8	129685	hgsc.bcm.edu	37	6	42044861	42044862	+	Missense_Mutation	DNP	GA	GA	CT			TCGA-Y8-A8RZ-01A-11D-A36X-10	TCGA-Y8-A8RZ-10A-01D-A370-10	G|A	G|A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	63f0d3c3-071e-44c7-863d-72f0242c5b93	2a0d89df-334c-4d21-ad1d-0040556032a0	g.chr6:42044861_42044862GA>CT	ENST00000372977.3	+	8	822_823	c.804_805GA>CT	c.(802-807)gaGAac>gaCTac	p.268_269EN>DY	TAF8_ENST00000456846.2_Missense_Mutation_p.268_269EN>DY|TAF8_ENST00000465926.1_Missense_Mutation_p.192_193EN>DY|TAF8_ENST00000494547.1_Missense_Mutation_p.R309T|TAF8_ENST00000372982.4_Missense_Mutation_p.R309T	NM_138572.2	NP_612639.2	Q7Z7C8	TAF8_HUMAN	TAF8 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 43kDa	268					cell differentiation (GO:0030154)|inner cell mass cell proliferation (GO:0001833)|maintenance of protein location in nucleus (GO:0051457)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fat cell differentiation (GO:0045598)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|transcription factor TFIID complex (GO:0005669)				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00179)			CCGAGAAGGAGAACACCTCTGT	0.49																																																0																																										SO:0001583	missense	129685			AK057383	CCDS43462.1	6p21.1	2008-10-23	2007-07-30	2007-07-30	ENSG00000137413	ENSG00000137413			17300	protein-coding gene	gene with protein product		609514	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 45/50kDa", "taube nuss homolog (mouse)"	TBN			Standard	NM_138572		Approved	FLJ32821, TAF(II)43	uc003ors.3	Q7Z7C8	OTTHUMG00000014692	Exception_encountered	chr6.hg19:g.42044861_42044862delinsCT	ENSP00000362068:p.E268_N269delinsDY		Q5T0K1|Q8N4R9|Q96M52	Missense_Mutation	SNP	ENST00000372977.3	hg19	CCDS43462.1																																																																																				0.49	TAF8-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000357901.1	NM_138572		CT	42044862	GA	CT	42044861	3	2	822	1	0	0	0	0	1	0	0	0	15539	933	33	4	834	4	TAF8	6	42044861	Missense_Mutation	DNP	GA	TCGA-Y8-A8RZ-01A-11D-A36X-10	10128238	42044861	129070206	22	49458											
UTRN	7402	hgsc.bcm.edu	37	6	144806574	144806574	+	Silent	SNP	C	C	T			TCGA-Y8-A8RZ-01A-11D-A36X-10	TCGA-Y8-A8RZ-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	63f0d3c3-071e-44c7-863d-72f0242c5b93	2a0d89df-334c-4d21-ad1d-0040556032a0	g.chr6:144806574C>T	ENST00000367545.3	+	27	3741	c.3741C>T	c.(3739-3741)acC>acT	p.T1247T		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1247					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)		TTGAAACTACCTGGTTAAACA	0.443																																																0													241	236	237					6																	144806574		2203	4300	6503	SO:0001819	synonymous_variant	7402			AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"utrophin (homologous to dystrophin)"	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.3741C>T	chr6.hg19:g.144806574C>T			Q5SYY1|Q5SZ57|Q9UJ40	Silent	SNP	ENST00000367545.3	hg19	CCDS34547.1																																																																																				0.443	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			T	144806574	C	T	144806574	2	4	822	1	0	0	0	0	0	0	0	1	17108	668	24	2		2	UTRN	6	144806574	Silent	SNP	C	TCGA-Y8-A8RZ-01A-11D-A36X-10	102761713	144806574	26308493	23	49459											
STXBP5	134957	hgsc.bcm.edu	37	6	147636834	147636834	+	Missense_Mutation	SNP	G	G	A			TCGA-Y8-A8RZ-01A-11D-A36X-10	TCGA-Y8-A8RZ-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	63f0d3c3-071e-44c7-863d-72f0242c5b93	2a0d89df-334c-4d21-ad1d-0040556032a0	g.chr6:147636834G>A	ENST00000321680.6	+	15	1586	c.1586G>A	c.(1585-1587)aGa>aAa	p.R529K	STXBP5_ENST00000367480.3_Missense_Mutation_p.R529K|STXBP5_ENST00000367481.3_Missense_Mutation_p.R529K|STXBP5_ENST00000179882.6_Missense_Mutation_p.R200K	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	529					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		ATTATTTATAGATTCAGCAAG	0.368																																																0													153	148	150					6																	147636834		2203	4300	6503	SO:0001583	missense	134957			AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"WD repeat domain containing"	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.1586G>A	chr6.hg19:g.147636834G>A	ENSP00000321826:p.Arg529Lys		Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Missense_Mutation	SNP	ENST00000321680.6	hg19	CCDS47499.1	.	.	.	.	.	.	.	.	.	.	G	9.754	1.168167	0.21621	.	.	ENSG00000164506	ENST00000367481;ENST00000321680;ENST00000367480;ENST00000179882	T;T;T;T	0.65549	2.81;2.81;1.64;-0.16	5.78	4.91	0.64330	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);	0.048956	0.85682	N	0.000000	T	0.52108	0.1714	L	0.31804	0.96	0.58432	D	0.999999	D;D;D	0.61697	0.99;0.987;0.986	D;P;D	0.72982	0.979;0.787;0.965	T	0.54490	-0.8286	10	0.07644	T	0.81	.	14.5713	0.68213	0.07:0.0:0.93:0.0	.	529;529;200	Q5T5C0-2;Q5T5C0;B3KXX0	.;STXB5_HUMAN;.	K	529;529;529;200	ENSP00000356451:R529K;ENSP00000321826:R529K;ENSP00000356450:R529K;ENSP00000179882:R200K	ENSP00000179882:R200K	R	+	2	0	STXBP5	147678527	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.424000	0.73366	1.442000	0.47568	0.563000	0.77884	AGA		0.368	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1			A	147636834	G	A	147636834	3	1	822	1	0	0	0	0	1	0	0	0	15361	942	33	2	1644	2	STXBP5	6	147636834	Missense_Mutation	SNP	G	TCGA-Y8-A8RZ-01A-11D-A36X-10	2830260	147636834	23478233	24	49460											
SDK1	221935	hgsc.bcm.edu	37	7	4051838	4051838	+	Missense_Mutation	SNP	C	C	A			TCGA-Y8-A8RZ-01A-11D-A36X-10	TCGA-Y8-A8RZ-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	63f0d3c3-071e-44c7-863d-72f0242c5b93	2a0d89df-334c-4d21-ad1d-0040556032a0	g.chr7:4051838C>A	ENST00000404826.2	+	16	2530	c.2391C>A	c.(2389-2391)caC>caA	p.H797Q	SDK1_ENST00000389531.3_Missense_Mutation_p.H797Q	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	797	Fibronectin type-III 2. {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)		AAACAGAGCACAACGGGGTGT	0.542																																																0													112	114	113					7																	4051838		2203	4300	6503	SO:0001583	missense	221935			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.2391C>A	chr7.hg19:g.4051838C>A	ENSP00000385899:p.His797Gln		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	hg19	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	C	0.033	-1.323101	0.01320	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.56103	0.48;0.48	5.15	1.22	0.21188	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.075263	0.53938	D	0.000045	T	0.30792	0.0776	N	0.00765	-1.205	0.33596	D	0.601748	B;D	0.76494	0.034;0.999	B;P	0.60541	0.016;0.876	T	0.40251	-0.9573	10	0.21540	T	0.41	.	7.3399	0.26632	0.12:0.5964:0.0:0.2836	.	797;797	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	Q	797	ENSP00000385899:H797Q;ENSP00000374182:H797Q	ENSP00000374182:H797Q	H	+	3	2	SDK1	4018364	0.403000	0.25319	0.990000	0.47175	0.402000	0.30811	-0.398000	0.07259	0.344000	0.23847	0.563000	0.77884	CAC		0.542	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		A	4051838	C	A	4051838	3	1	822	1	0	0	0	0	1	0	0	0	13974	477	17	4	2453	4	SDK1	7	4051838	Missense_Mutation	SNP	C	TCGA-Y8-A8RZ-01A-11D-A36X-10		4051838	155086825	25	49461											
ELMO1	9844	hgsc.bcm.edu	37	7	36895202	36895202	+	Missense_Mutation	SNP	A	A	G			TCGA-Y8-A8RZ-01A-11D-A36X-10	TCGA-Y8-A8RZ-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	63f0d3c3-071e-44c7-863d-72f0242c5b93	2a0d89df-334c-4d21-ad1d-0040556032a0	g.chr7:36895202A>G	ENST00000310758.4	-	22	2785	c.2138T>C	c.(2137-2139)aTt>aCt	p.I713T	ELMO1_ENST00000442504.1_Missense_Mutation_p.I713T|ELMO1_ENST00000396040.2_Missense_Mutation_p.I233T|ELMO1_ENST00000341056.3_Missense_Mutation_p.I415T|ELMO1_ENST00000448602.1_Missense_Mutation_p.I713T|ELMO1_ENST00000396045.3_Missense_Mutation_p.I233T	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	713					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						CTCCTTGGGAATCGGCGGAGG	0.562																																																0													122	123	123					7																	36895202		2203	4300	6503	SO:0001583	missense	9844			AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"Engulfment and cell motility proteins"	16286	protein-coding gene	gene with protein product		606420	"engulfment and cell motility 1 (ced-12 homolog, C. elegans)"			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.2138T>C	chr7.hg19:g.36895202A>G	ENSP00000312185:p.Ile713Thr		A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	ENST00000310758.4	hg19	CCDS5449.1	.	.	.	.	.	.	.	.	.	.	A	17.40	3.379922	0.61845	.	.	ENSG00000155849	ENST00000341056;ENST00000396045;ENST00000310758;ENST00000361912;ENST00000396040;ENST00000442504;ENST00000448602	T;T;T;T;T;T	0.51325	1.27;0.71;2.25;0.71;2.25;2.25	4.77	4.77	0.60923	.	0.061993	0.64402	D	0.000006	T	0.54647	0.1871	M	0.73962	2.25	0.80722	D	1	B	0.29627	0.252	B	0.36989	0.238	T	0.60969	-0.7157	10	0.72032	D	0.01	.	14.759	0.69590	1.0:0.0:0.0:0.0	.	713	Q92556	ELMO1_HUMAN	T	415;233;713;617;233;713;713	ENSP00000342142:I415T;ENSP00000379360:I233T;ENSP00000312185:I713T;ENSP00000379355:I233T;ENSP00000406952:I713T;ENSP00000394458:I713T	ENSP00000312185:I713T	I	-	2	0	ELMO1	36861727	1.000000	0.71417	0.981000	0.43875	0.875000	0.50365	9.139000	0.94554	2.132000	0.65825	0.528000	0.53228	ATT		0.562	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442		G	36895202	A	G	36895202	3	3	822	1	0	0	0	0	1	0	0	0	5067	101	4	3	49	3	ELMO1	7	36895202	Missense_Mutation	SNP	A	TCGA-Y8-A8RZ-01A-11D-A36X-10	32843364	36895202	122243461	26	49462											
IQUB	154865	hgsc.bcm.edu	37	7	123143385	123143385	+	Nonsense_Mutation	SNP	G	G	A			TCGA-Y8-A8RZ-01A-11D-A36X-10	TCGA-Y8-A8RZ-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	63f0d3c3-071e-44c7-863d-72f0242c5b93	2a0d89df-334c-4d21-ad1d-0040556032a0	g.chr7:123143385G>A	ENST00000466202.1	-	4	1141	c.565C>T	c.(565-567)Caa>Taa	p.Q189*	IQUB_ENST00000324698.6_Nonsense_Mutation_p.Q189*|IQUB_ENST00000434450.1_Nonsense_Mutation_p.Q189*|IQUB_ENST00000488987.1_Intron	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	189	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						ACTCCATGTTGTACTAGAGTC	0.284																																																0													102	109	107					7																	123143385		2203	4300	6503	SO:0001587	stop_gained	154865			AK093153	CCDS5787.1	7q31.32	2010-03-19			ENSG00000164675	ENSG00000164675			21995	protein-coding gene	gene with protein product							Standard	NM_178827		Approved	FLJ35834	uc003vko.3	Q8NA54	OTTHUMG00000157347	ENST00000466202.1:c.565C>T	chr7.hg19:g.123143385G>A	ENSP00000417769:p.Gln189*		A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Nonsense_Mutation	SNP	ENST00000466202.1	hg19	CCDS5787.1	.	.	.	.	.	.	.	.	.	.	G	12.53	1.965645	0.34659	.	.	ENSG00000164675	ENST00000466202;ENST00000324698;ENST00000434450	.	.	.	5.31	4.37	0.52481	.	0.486665	0.19520	N	0.112302	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	3.6964	0.08365	0.0835:0.1402:0.52:0.2564	.	.	.	.	X	189	.	ENSP00000324882:Q189X	Q	-	1	0	IQUB	122930621	0.004000	0.15560	0.899000	0.35326	0.132000	0.20833	0.148000	0.16224	2.637000	0.89404	0.655000	0.94253	CAA		0.284	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348529.1	NM_178827		A	123143385	G	A	123143385	4	1	822	1	0	0	0	0	0	1	0	0	7822	1386	48	2	1850	2	IQUB	7	123143385	Nonsense_Mutation	SNP	G	TCGA-Y8-A8RZ-01A-11D-A36X-10	86248183	123143385	35995278	27	49463											
ZNF212	7988	hgsc.bcm.edu	37	7	148947628	148947629	+	Missense_Mutation	DNP	GA	GA	CC			TCGA-Y8-A8RZ-01A-11D-A36X-10	TCGA-Y8-A8RZ-10A-01D-A370-10	G|A	G|A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	63f0d3c3-071e-44c7-863d-72f0242c5b93	2a0d89df-334c-4d21-ad1d-0040556032a0	g.chr7:148947628_148947629GA>CC	ENST00000335870.2	+	2	531_532	c.403_404GA>CC	c.(403-405)GAg>CCg	p.E135P		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	135					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			CAGCAAGGGGGAGGCCCCCAAG	0.559																																																0																																										SO:0001583	missense	7988			U38864	CCDS5896.1	7q36.1	2013-01-08			ENSG00000170260	ENSG00000170260		"Zinc fingers, C2H2-type", "-"	13004	protein-coding gene	gene with protein product		602386				9169157	Standard	NM_012256		Approved	C2H2-150	uc003wfp.3	Q9UDV6	OTTHUMG00000158968	Exception_encountered	chr7.hg19:g.148947628_148947629delinsCC	ENSP00000338572:p.Glu135Pro		B2RCF4|Q13396|Q8N664	Missense_Mutation	SNP	ENST00000335870.2	hg19	CCDS5896.1																																																																																				0.559	ZNF212-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352710.1	NM_012256		CC	148947629	GA	CC	148947628	3	2	822	1	0	0	0	0	1	0	0	0	17773	1175	41	4	409	4	ZNF212	7	148947628	Missense_Mutation	DNP	GA	TCGA-Y8-A8RZ-01A-11D-A36X-10	25804243	148947628	10191035	28	49464											
NOM1	64434	hgsc.bcm.edu	37	7	156759786	156759786	+	Splice_Site	SNP	G	G	C			TCGA-Y8-A8RZ-01A-11D-A36X-10	TCGA-Y8-A8RZ-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	63f0d3c3-071e-44c7-863d-72f0242c5b93	2a0d89df-334c-4d21-ad1d-0040556032a0	g.chr7:156759786G>C	ENST00000275820.3	+	9	2313	c.2298G>C	c.(2296-2298)aaG>aaC	p.K766N		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	766	MI. {ECO:0000255|PROSITE- ProRule:PRU00698}.					nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		CCATCTTAAAGGTTCGTGTAA	0.403																																																0													107	99	101					7																	156759786		2203	4300	6503	SO:0001630	splice_region_variant	64434			AF107455	CCDS34787.1	7q36.3	2014-06-13	2005-03-30	2005-03-30	ENSG00000146909	ENSG00000146909			13244	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 113"	611269	"chromosome 7 open reading frame 3"	C7orf3		10329000	Standard	XM_005249560		Approved	SGD1, PPP1R113	uc003wmy.3	Q5C9Z4	OTTHUMG00000152639	ENST00000275820.3:c.2298+1G>C	chr7.hg19:g.156759786G>C			Q96I08	Missense_Mutation	SNP	ENST00000275820.3	hg19	CCDS34787.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.757513	0.49468	.	.	ENSG00000146909	ENST00000275820	T	0.17213	2.29	4.73	4.73	0.59995	Initiation factor eIF-4 gamma, MA3 (1);	0.000000	0.85682	D	0.000000	T	0.51210	0.1661	M	0.89968	3.075	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.63537	-0.6615	10	0.72032	D	0.01	-36.156	18.0532	0.89356	0.0:0.0:1.0:0.0	.	766	Q5C9Z4	NOM1_HUMAN	N	766	ENSP00000275820:K766N	ENSP00000275820:K766N	K	+	3	2	NOM1	156452547	1.000000	0.71417	0.991000	0.47740	0.037000	0.13140	6.007000	0.70731	2.317000	0.78254	0.655000	0.94253	AAG		0.403	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327098.1	NM_138400	Missense_Mutation	C	156759786	G	C	156759786	5	2	822	1	0	0	0	0	0	0	1	0	10532	1014	35	4	2332	4	NOM1	7	156759786	Splice_Site	SNP	G	TCGA-Y8-A8RZ-01A-11D-A36X-10	7812158	156759786	2378877	29	49465											
GBA2	57704	hgsc.bcm.edu	37	9	35740323	35740323	+	Missense_Mutation	SNP	G	G	A			TCGA-Y8-A8RZ-01A-11D-A36X-10	TCGA-Y8-A8RZ-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	63f0d3c3-071e-44c7-863d-72f0242c5b93	2a0d89df-334c-4d21-ad1d-0040556032a0	g.chr9:35740323G>A	ENST00000378103.3	-	7	1689	c.1166C>T	c.(1165-1167)gCt>gTt	p.A389V	GBA2_ENST00000467252.1_5'UTR|GBA2_ENST00000378094.4_Missense_Mutation_p.A389V|GBA2_ENST00000378088.1_5'Flank|GBA2_ENST00000545786.1_Missense_Mutation_p.A395V	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	389					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)			CACAGCTCCAGCAATGCCTAC	0.547																																																0													54	50	51					9																	35740323		2203	4300	6503	SO:0001583	missense	57704			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.1166C>T	chr9.hg19:g.35740323G>A	ENSP00000367343:p.Ala389Val		D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Missense_Mutation	SNP	ENST00000378103.3	hg19	CCDS6589.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.768382	0.90020	.	.	ENSG00000070610	ENST00000378103;ENST00000378094;ENST00000545786	.	.	.	5.6	4.66	0.58398	Beta-glucosidase, GBA2 type, N-terminal (1);	0.051116	0.85682	D	0.000000	T	0.79557	0.4466	M	0.89095	3.005	0.80722	D	1	D;D;P	0.67145	0.971;0.996;0.955	P;P;P	0.59357	0.651;0.856;0.763	T	0.83056	-0.0150	9	0.59425	D	0.04	-8.1199	15.9277	0.79632	0.0:0.135:0.865:0.0	.	395;389;389	F5H7P6;Q9HCG7-2;Q9HCG7	.;.;GBA2_HUMAN	V	389;389;395	.	ENSP00000367334:A389V	A	-	2	0	GBA2	35730323	1.000000	0.71417	0.987000	0.45799	0.979000	0.70002	6.041000	0.70988	2.798000	0.96311	0.650000	0.86243	GCT		0.547	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944		A	35740323	G	A	35740323	3	1	822	1	0	0	0	0	1	0	0	0	6269	971	34	2	1661	2	GBA2	9	35740323	Missense_Mutation	SNP	G	TCGA-Y8-A8RZ-01A-11D-A36X-10		35740323	105473108	30	49466											
NPR2	4882	hgsc.bcm.edu	37	9	35808792	35808794	+	In_Frame_Del	DEL	TTA	TTA	-			TCGA-Y8-A8RZ-01A-11D-A36X-10	TCGA-Y8-A8RZ-10A-01D-A370-10	TTA	TTA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	63f0d3c3-071e-44c7-863d-72f0242c5b93	2a0d89df-334c-4d21-ad1d-0040556032a0	g.chr9:35808792_35808794delTTA	ENST00000342694.2	+	20	3183_3185	c.2928_2930delTTA	c.(2926-2931)cgttat>cgt	p.Y977del	SPAG8_ENST00000479751.1_5'Flank|SPAG8_ENST00000340291.2_Intron|AL133410.1_ENST00000582432.1_RNA	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2	977	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				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)	AGATGCCCCGTTATTGTCTTTTT	0.498																																																0																																										SO:0001651	inframe_deletion	4882			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.2928_2930delTTA	chr9.hg19:g.35808792_35808794delTTA	ENSP00000341083:p.Tyr977del		B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	In_Frame_Del	DEL	ENST00000342694.2	hg19	CCDS6590.1																																																																																				0.498	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1			-	35808794	TTA	-	35808792	7	5	822	1	0	1	0	1	0	0	0	0	10597	1712	60	0	3006	0	NPR2	9	35808792	In_Frame_Del	DEL	TTA	TCGA-Y8-A8RZ-01A-11D-A36X-10	68469	35808792	105404639	31	49467											
NUP214	8021	hgsc.bcm.edu	37	9	134003841	134003841	+	Missense_Mutation	SNP	T	T	A			TCGA-Y8-A8RZ-01A-11D-A36X-10	TCGA-Y8-A8RZ-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	63f0d3c3-071e-44c7-863d-72f0242c5b93	2a0d89df-334c-4d21-ad1d-0040556032a0	g.chr9:134003841T>A	ENST00000359428.5	+	3	508	c.364T>A	c.(364-366)Ttt>Att	p.F122I	RNU6-881P_ENST00000516813.1_RNA|NUP214_ENST00000411637.2_Missense_Mutation_p.F122I|NUP214_ENST00000451030.1_Missense_Mutation_p.F122I			P35658	NU214_HUMAN	nucleoporin 214kDa	122	Seven-bladed beta propeller.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|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)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		CATTATTGCTTTTTTTGATGT	0.398			T	"DEK, SET, ABL1"	"AML, T-ALL"																																Pancreas(4;24 48 25510 30394 32571)		Dom	yes		9	9q34.1	8021	nucleoporin 214kDa (CAN)		L	0													245	198	214					9																	134003841		2203	4300	6503	SO:0001583	missense	8021			X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"nuclear pore complex protein Nup214", "CAN protein, putative oncogene"	114350	"nucleoporin 214kD (CAIN)"			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.364T>A	chr9.hg19:g.134003841T>A	ENSP00000352400:p.Phe122Ile		A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	ENST00000359428.5	hg19	CCDS6940.1	.	.	.	.	.	.	.	.	.	.	T	34	5.324616	0.95708	.	.	ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375;ENST00000531584	D;D;D;D	0.94046	-3.34;-3.34;-3.34;-3.34	5.94	5.94	0.96194	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.44097	D	0.000484	D	0.95364	0.8495	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.93373	0.6737	10	0.11485	T	0.65	-11.7116	15.5751	0.76373	0.0:0.0:0.0:1.0	.	122;122	P35658-4;P35658	.;NU214_HUMAN	I	122;122;122;122;32	ENSP00000352400:F122I;ENSP00000396576:F122I;ENSP00000405014:F122I;ENSP00000435874:F32I	ENSP00000352400:F122I	F	+	1	0	NUP214	132993662	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.343000	0.72986	2.276000	0.75962	0.455000	0.32223	TTT		0.398	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		A	134003841	T	A	134003841	3	1	822	1	0	0	0	0	1	0	0	0	10764	1841	64	5	374	5	NUP214	9	134003841	Missense_Mutation	SNP	T	TCGA-Y8-A8RZ-01A-11D-A36X-10	98195049	134003841	7209590	32	49468											
GDF10	2662	hgsc.bcm.edu	37	10	48426591	48426591	+	Silent	SNP	C	C	A			TCGA-Y8-A8RZ-01A-11D-A36X-10	TCGA-Y8-A8RZ-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	63f0d3c3-071e-44c7-863d-72f0242c5b93	2a0d89df-334c-4d21-ad1d-0040556032a0	g.chr10:48426591C>A	ENST00000224605.2	-	3	1681	c.1416G>T	c.(1414-1416)gtG>gtT	p.V472V		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	472					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						CACAGGTGTCCACGGACATGT	0.577											OREG0020165	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													96	98	97					10																	48426591		2203	4300	6503	SO:0001819	synonymous_variant	2662			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.1416G>T	chr10.hg19:g.48426591C>A		954	Q5VSQ8|Q9UCX6	Silent	SNP	ENST00000224605.2	hg19	CCDS7220.1																																																																																				0.577	GDF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047884.1	NM_004962		A	48426591	C	A	48426591	2	1	822	1	0	0	0	0	0	0	0	1	6313	581	21	4		4	GDF10	10	48426591	Silent	SNP	C	TCGA-Y8-A8RZ-01A-11D-A36X-10		48426591	87108156	33	49469											
OR5D16	390144	hgsc.bcm.edu	37	11	55606280	55606280	+	Missense_Mutation	SNP	G	G	C			TCGA-Y8-A8RZ-01A-11D-A36X-10	TCGA-Y8-A8RZ-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	63f0d3c3-071e-44c7-863d-72f0242c5b93	2a0d89df-334c-4d21-ad1d-0040556032a0	g.chr11:55606280G>C	ENST00000378396.1	+	1	53	c.53G>C	c.(52-54)gGc>gCc	p.G18A		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	18						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)				ACTCTCTTGGGCTTCTCAGAT	0.418																																																0													100	91	94					11																	55606280		2201	4296	6497	SO:0001583	missense	390144			AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"GPCR / Class A : Olfactory receptors"	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.53G>C	chr11.hg19:g.55606280G>C	ENSP00000367649:p.Gly18Ala		Q6IF65|Q96RB4	Missense_Mutation	SNP	ENST00000378396.1	hg19	CCDS31512.1	.	.	.	.	.	.	.	.	.	.	.	15.72	2.916894	0.52546	.	.	ENSG00000205029	ENST00000378396	T	0.00651	5.97	4.15	1.15	0.20763	.	.	.	.	.	T	0.02970	0.0088	M	0.86502	2.82	0.26922	N	0.966655	D	0.60160	0.987	D	0.66084	0.941	T	0.25813	-1.0121	9	0.87932	D	0	-12.1839	6.3729	0.21491	0.175:0.1508:0.6741:0.0	.	18	Q8NGK9	OR5DG_HUMAN	A	18	ENSP00000367649:G18A	ENSP00000367649:G18A	G	+	2	0	OR5D16	55362856	1.000000	0.71417	0.079000	0.20413	0.900000	0.52787	3.721000	0.54941	0.048000	0.15891	0.530000	0.56133	GGC		0.418	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334506.1	NM_001005496		C	55606280	G	C	55606280	3	2	822	1	0	0	0	0	1	0	0	0	11158	1203	42	4	55	4	OR5D16	11	55606280	Missense_Mutation	SNP	G	TCGA-Y8-A8RZ-01A-11D-A36X-10		55606280	79400236	34	49470											
TMEM179B	374395	hgsc.bcm.edu	37	11	62556681	62556681	+	Splice_Site	SNP	A	A	T			TCGA-Y8-A8RZ-01A-11D-A36X-10	TCGA-Y8-A8RZ-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	63f0d3c3-071e-44c7-863d-72f0242c5b93	2a0d89df-334c-4d21-ad1d-0040556032a0	g.chr11:62556681A>T	ENST00000333449.4	+	2	288	c.283A>T	c.(283-285)Aga>Tga	p.R95*	RP11-727F15.12_ENST00000601484.1_RNA|TMEM223_ENST00000525631.1_Intron|TMEM223_ENST00000527073.1_Intron|TMEM179B_ENST00000533861.1_Splice_Site_p.R95*	NM_199337.2	NP_955369.1	Q7Z7N9	T179B_HUMAN	transmembrane protein 179B	95						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(1)|liver(1)|lung(1)	4						GGACTCCCACAGGTGACTGCC	0.587																																																0													82	69	73					11																	62556681		2201	4299	6500	SO:0001630	splice_region_variant	374395			BC051355	CCDS8036.1	11q12.3	2007-11-26			ENSG00000185475	ENSG00000185475			33744	protein-coding gene	gene with protein product							Standard	NM_199337		Approved		uc001nvd.4	Q7Z7N9	OTTHUMG00000167611	ENST00000333449.4:c.284+1A>T	chr11.hg19:g.62556681A>T				Nonsense_Mutation	SNP	ENST00000333449.4	hg19	CCDS8036.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	32|32	5.192393|5.192393	0.94960|0.94960	.|.	.|.	ENSG00000185475|ENSG00000185475	ENST00000526546|ENST00000533861;ENST00000333449	.|.	.|.	.|.	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	.|0.097909	.|0.64402	.|D	.|0.000002	T|.	0.33556|.	0.0867|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.36817|.	-0.9732|.	3|.	.|0.02654	.|T	.|1	.|.	12.3273|12.3273	0.55018|0.55018	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|.	.|.	.|.	L|X	14|95	.|.	.|ENSP00000333697:R95X	Q|R	+|+	2|1	0|2	TMEM179B|TMEM179B	62313257|62313257	0.952000|0.952000	0.32445|0.32445	1.000000|1.000000	0.80357|0.80357	0.869000|0.869000	0.49853|0.49853	2.064000|2.064000	0.41432|0.41432	2.179000|2.179000	0.69175|0.69175	0.459000|0.459000	0.35465|0.35465	CAG|AGA		0.587	TMEM179B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395362.2	NM_199337	Nonsense_Mutation	T	62556681	A	T	62556681	5	4	822	1	0	0	0	0	0	0	1	0	16102	202	7	5	289	5	TMEM179B	11	62556681	Splice_Site	SNP	A	TCGA-Y8-A8RZ-01A-11D-A36X-10	6950401	62556681	72449835	35	49471											
LRP5	4041	hgsc.bcm.edu	37	11	68154171	68154171	+	Missense_Mutation	SNP	C	C	T			TCGA-Y8-A8RZ-01A-11D-A36X-10	TCGA-Y8-A8RZ-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	63f0d3c3-071e-44c7-863d-72f0242c5b93	2a0d89df-334c-4d21-ad1d-0040556032a0	g.chr11:68154171C>T	ENST00000294304.7	+	6	1509	c.1403C>T	c.(1402-1404)cCc>cTc	p.P468L		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	468	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						GCACTGCACCCCGTGATGGGG	0.677																																																0													24	24	24					11																	68154171		2193	4281	6474	SO:0001583	missense	4041			AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"Low density lipoprotein receptors"	6697	protein-coding gene	gene with protein product		603506	"osteoporosis pseudoglioma syndrome", "exudative vitreoretinopathy 1"	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.1403C>T	chr11.hg19:g.68154171C>T	ENSP00000294304:p.Pro468Leu		Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	ENST00000294304.7	hg19	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.727213	0.89390	.	.	ENSG00000162337	ENST00000294304	D	0.95518	-3.73	3.94	3.94	0.45596	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.48767	U	0.000167	D	0.98785	0.9591	H	0.99130	4.44	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99157	1.0860	10	0.66056	D	0.02	.	16.5321	0.84364	0.0:1.0:0.0:0.0	.	468	O75197	LRP5_HUMAN	L	468	ENSP00000294304:P468L	ENSP00000294304:P468L	P	+	2	0	LRP5	67910747	1.000000	0.71417	0.991000	0.47740	0.846000	0.48090	7.339000	0.79282	2.228000	0.72767	0.455000	0.32223	CCC		0.677	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		T	68154171	C	T	68154171	3	4	822	1	0	0	0	0	1	0	0	0	8962	623	22	2	1425	2	LRP5	11	68154171	Missense_Mutation	SNP	C	TCGA-Y8-A8RZ-01A-11D-A36X-10	5597490	68154171	66852345	36	49472											
SAPS3	55291	hgsc.bcm.edu	37	11	68377430	68377430	+	Missense_Mutation	SNP	C	C	A			TCGA-Y8-A8RZ-01A-11D-A36X-10	TCGA-Y8-A8RZ-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	63f0d3c3-071e-44c7-863d-72f0242c5b93	2a0d89df-334c-4d21-ad1d-0040556032a0	g.chr11:68377430C>A	ENST00000393800.2	+	23	2763	c.2509C>A	c.(2509-2511)Ccc>Acc	p.P837T	PPP6R3_ENST00000265637.4_Missense_Mutation_p.P791T|PPP6R3_ENST00000524845.1_Missense_Mutation_p.P808T|PPP6R3_ENST00000527403.2_Missense_Mutation_p.P802T|PPP6R3_ENST00000534534.1_Missense_Mutation_p.P605T|PPP6R3_ENST00000265636.5_Missense_Mutation_p.P757T|PPP6R3_ENST00000393799.2_Missense_Mutation_p.P843T|PPP6R3_ENST00000529710.1_Missense_Mutation_p.P757T|PPP6R3_ENST00000524904.1_Missense_Mutation_p.P831T|PPP6R3_ENST00000393801.3_Missense_Mutation_p.P843T	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	837					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						AGAGGAGTGTCCCGAGACTGC	0.602																																																0													114	99	104					11																	68377430		2200	4294	6494	SO:0001583	missense	55291			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.2509C>A	chr11.hg19:g.68377430C>A	ENSP00000377389:p.Pro837Thr		Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Missense_Mutation	SNP	ENST00000393800.2	hg19	CCDS53672.1	.	.	.	.	.	.	.	.	.	.	C	5.098	0.203685	0.09704	.	.	ENSG00000110075	ENST00000393799;ENST00000393800;ENST00000534534;ENST00000524845;ENST00000265637;ENST00000524904;ENST00000393801;ENST00000265636;ENST00000529710;ENST00000527403;ENST00000534190	T;T;T;T;T;T;T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41	5.38	4.38	0.52667	.	0.726852	0.13772	N	0.363810	T	0.47838	0.1467	N	0.22421	0.69	0.19575	N	0.999961	B;B;B;B;B;B;B;B	0.06786	0.0;0.0;0.001;0.0;0.0;0.0;0.0;0.001	B;B;B;B;B;B;B;B	0.09377	0.001;0.0;0.004;0.001;0.001;0.0;0.001;0.004	T	0.16600	-1.0397	10	0.37606	T	0.19	.	4.8595	0.13575	0.2207:0.5836:0.1117:0.0839	.	520;605;757;808;831;837;843;757	B4DYU6;E9PQP7;Q5H9R7-3;Q5H9R7-6;Q5H9R7-2;Q5H9R7;Q5H9R7-5;Q5H9R7-4	.;.;.;.;.;PP6R3_HUMAN;.;.	T	843;837;605;808;791;831;843;757;757;802;544	ENSP00000377388:P843T;ENSP00000377389:P837T;ENSP00000434429:P605T;ENSP00000431415:P808T;ENSP00000265637:P791T;ENSP00000433058:P831T;ENSP00000377390:P843T;ENSP00000265636:P757T;ENSP00000437329:P757T;ENSP00000433565:P802T;ENSP00000436209:P544T	ENSP00000265636:P757T	P	+	1	0	PPP6R3	68134006	0.133000	0.22466	0.839000	0.33178	0.002000	0.02628	-0.056000	0.11787	2.512000	0.84698	0.561000	0.74099	CCC		0.602	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395275.1	NM_018312		A	68377430	C	A	68377430	3	1	822	1	0	0	0	0	1	0	0	0	13844	855	30	4	2613	4	SAPS3	11	68377430	Missense_Mutation	SNP	C	TCGA-Y8-A8RZ-01A-11D-A36X-10	223259	68377430	66629086	37	49473											
PIK3C2G	5288	hgsc.bcm.edu	37	12	18699304	18699304	+	Missense_Mutation	SNP	A	A	T	rs552965370		TCGA-Y8-A8RZ-01A-11D-A36X-10	TCGA-Y8-A8RZ-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	63f0d3c3-071e-44c7-863d-72f0242c5b93	2a0d89df-334c-4d21-ad1d-0040556032a0	g.chr12:18699304A>T	ENST00000266497.5	+	24	3443	c.3405A>T	c.(3403-3405)aaA>aaT	p.K1135N	PIK3C2G_ENST00000433979.1_Missense_Mutation_p.K1135N|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.K1176N			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1135	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				AAGACCTGAAATATGTGTATA	0.393																																																0													121	109	113					12																	18699304		1971	4159	6130	SO:0001583	missense	5288			AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"phosphoinositide-3-kinase, class 2, gamma polypeptide"			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.3405A>T	chr12.hg19:g.18699304A>T	ENSP00000266497:p.Lys1135Asn		A1L3U0	Missense_Mutation	SNP	ENST00000266497.5	hg19	CCDS44839.1	.	.	.	.	.	.	.	.	.	.	A	17.42	3.385183	0.61956	.	.	ENSG00000139144	ENST00000433979;ENST00000266497;ENST00000538779	D;D;D	0.81821	-1.54;-1.54;-1.54	4.07	2.87	0.33458	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.155509	0.42682	D	0.000680	T	0.74084	0.3670	N	0.20304	0.555	0.44302	D	0.997173	P;P;P	0.52463	0.921;0.953;0.921	P;P;P	0.53401	0.535;0.725;0.535	T	0.71073	-0.4698	10	0.36615	T	0.2	-21.2283	9.6631	0.39967	0.9141:0.0:0.0859:0.0	.	1175;1176;1135	B7ZLY6;F5H369;O75747	.;.;P3C2G_HUMAN	N	1135;1135;1176	ENSP00000404845:K1135N;ENSP00000266497:K1135N;ENSP00000445381:K1176N	ENSP00000266497:K1135N	K	+	3	2	PIK3C2G	18590571	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	2.472000	0.45136	0.862000	0.35528	0.533000	0.62120	AAA		0.393	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		T	18699304	A	T	18699304	3	4	822	1	0	0	0	0	1	0	0	0	11913	98	4	5	3499	5	PIK3C2G	12	18699304	Missense_Mutation	SNP	A	TCGA-Y8-A8RZ-01A-11D-A36X-10		18699304	115152591	38	49474											
DENND5B	160518	hgsc.bcm.edu	37	12	31633023	31633023	+	Missense_Mutation	SNP	A	A	G			TCGA-Y8-A8RZ-01A-11D-A36X-10	TCGA-Y8-A8RZ-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	63f0d3c3-071e-44c7-863d-72f0242c5b93	2a0d89df-334c-4d21-ad1d-0040556032a0	g.chr12:31633023A>G	ENST00000389082.5	-	3	668	c.404T>C	c.(403-405)cTt>cCt	p.L135P	DENND5B_ENST00000306833.6_Missense_Mutation_p.L170P|DENND5B_ENST00000536562.1_Missense_Mutation_p.L170P|DENND5B_ENST00000354285.4_Missense_Mutation_p.L157P|DENND5B_ENST00000545147.1_Intron	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	135					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						CATCTGGTAAAGTGTCTGCAT	0.408																																																0													90	87	88					12																	31633023		2068	4221	6289	SO:0001583	missense	160518			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.404T>C	chr12.hg19:g.31633023A>G	ENSP00000373734:p.Leu135Pro		B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Missense_Mutation	SNP	ENST00000389082.5	hg19	CCDS44857.1	.	.	.	.	.	.	.	.	.	.	A	19.94	3.920322	0.73098	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562;ENST00000354285;ENST00000546299	T;T;T;T;T	0.11712	3.31;3.43;3.43;2.75;2.77	4.65	4.65	0.58169	.	0.000000	0.64402	D	0.000004	T	0.33000	0.0848	M	0.73962	2.25	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;1.0;0.999;1.0	T	0.10245	-1.0638	10	0.87932	D	0	-17.2544	14.2554	0.66048	1.0:0.0:0.0:0.0	.	170;57;157;135;170	Q6ZUT9-2;Q6ZUT9-3;Q6ZUT9-4;Q6ZUT9;G3V1S3	.;.;.;DEN5B_HUMAN;.	P	135;170;170;157;87	ENSP00000373734:L135P;ENSP00000306482:L170P;ENSP00000444889:L170P;ENSP00000346238:L157P;ENSP00000442938:L87P	ENSP00000306482:L170P	L	-	2	0	DENND5B	31524290	1.000000	0.71417	0.901000	0.35422	0.908000	0.53690	8.897000	0.92532	1.955000	0.56771	0.533000	0.62120	CTT		0.408	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1	NM_144973		G	31633023	A	G	31633023	3	3	822	1	0	0	0	0	1	0	0	0	4439	72	3	3	3496	3	DENND5B	12	31633023	Missense_Mutation	SNP	A	TCGA-Y8-A8RZ-01A-11D-A36X-10	12933719	31633023	102218872	39	49475											
PDE1B	5153	hgsc.bcm.edu	37	12	54964116	54964116	+	Missense_Mutation	SNP	G	G	C	rs568969611		TCGA-Y8-A8RZ-01A-11D-A36X-10	TCGA-Y8-A8RZ-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	63f0d3c3-071e-44c7-863d-72f0242c5b93	2a0d89df-334c-4d21-ad1d-0040556032a0	g.chr12:54964116G>C	ENST00000243052.3	+	6	1005	c.569G>C	c.(568-570)cGg>cCg	p.R190P	PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000550620.1_Missense_Mutation_p.R170P|PDE1B_ENST00000538346.1_Missense_Mutation_p.R149P	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	190					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|monocyte differentiation (GO:0030224)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of dopamine metabolic process (GO:0042053)|regulation of neurotransmitter levels (GO:0001505)|response to amphetamine (GO:0001975)|serotonin metabolic process (GO:0042428)|signal transduction (GO:0007165)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31					Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	TTGCTGACTCGGCATAACCTC	0.512																																																0													184	153	163					12																	54964116		2203	4300	6503	SO:0001583	missense	5153			U56976	CCDS8882.1, CCDS53800.1, CCDS73477.1	12q13	2008-03-18				ENSG00000123360	3.1.4.17	"Phosphodiesterases"	8775	protein-coding gene	gene with protein product		171891		PDES1B		8855339, 9419816	Standard	NM_000924		Approved		uc001sgd.2	Q01064	OTTHUMG00000169844	ENST00000243052.3:c.569G>C	chr12.hg19:g.54964116G>C	ENSP00000243052:p.Arg190Pro		Q92825|Q96KP3	Missense_Mutation	SNP	ENST00000243052.3	hg19	CCDS8882.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.561493	0.86335	.	.	ENSG00000123360	ENST00000243052;ENST00000538346;ENST00000550620	T;T;T	0.71461	-0.57;-0.54;-0.55	3.84	3.84	0.44239	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.065176	0.56097	D	0.000021	T	0.82116	0.4967	M	0.80183	2.485	0.80722	D	1	D;P	0.54397	0.966;0.921	P;P	0.61533	0.89;0.841	D	0.85159	0.0991	10	0.87932	D	0	.	14.0587	0.64786	0.0:0.0:1.0:0.0	.	170;190	Q01064-2;Q01064	.;PDE1B_HUMAN	P	190;149;170	ENSP00000243052:R190P;ENSP00000442559:R149P;ENSP00000448519:R170P	ENSP00000243052:R190P	R	+	2	0	PDE1B	53250383	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.570000	0.82390	2.433000	0.82419	0.561000	0.74099	CGG		0.512	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406203.1			C	54964116	G	C	54964116	3	2	822	1	0	0	0	0	1	0	0	0	11636	1116	39	4	644	4	PDE1B	12	54964116	Missense_Mutation	SNP	G	TCGA-Y8-A8RZ-01A-11D-A36X-10	23331093	54964116	78887779	40	49476											
DCTN2	10540	hgsc.bcm.edu	37	12	57925883	57925883	+	Missense_Mutation	SNP	T	T	G			TCGA-Y8-A8RZ-01A-11D-A36X-10	TCGA-Y8-A8RZ-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	63f0d3c3-071e-44c7-863d-72f0242c5b93	2a0d89df-334c-4d21-ad1d-0040556032a0	g.chr12:57925883T>G	ENST00000548249.1	-	13	1301	c.1034A>C	c.(1033-1035)cAg>cCg	p.Q345P	DCTN2_ENST00000543672.1_Missense_Mutation_p.Q350P|DCTN2_ENST00000537439.1_Missense_Mutation_p.Q322P|DCTN2_ENST00000434715.3_Missense_Mutation_p.Q350P|DCTN2_ENST00000551400.1_5'Flank	NM_001261412.1|NM_001261413.1	NP_001248341.1|NP_001248342.1	Q13561	DCTN2_HUMAN	dynactin 2 (p50)	345					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						CTGACCAAACTGCATGGCTAC	0.473																																																0													88	91	90					12																	57925883		1967	4139	6106	SO:0001583	missense	10540			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.1034A>C	chr12.hg19:g.57925883T>G	ENSP00000447824:p.Gln345Pro		B2RBK5|Q86YN2|Q9BW17	Missense_Mutation	SNP	ENST00000548249.1	hg19	CCDS58245.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.973025	0.74246	.	.	ENSG00000175203	ENST00000548249;ENST00000434715;ENST00000543672;ENST00000537439;ENST00000354743;ENST00000543105;ENST00000546758	.	.	.	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.60547	0.2277	M	0.69823	2.125	0.80722	D	1	P;P;P	0.39311	0.616;0.616;0.667	B;B;B	0.42138	0.377;0.326;0.301	T	0.62086	-0.6928	9	0.36615	T	0.2	-16.689	14.0463	0.64706	0.0:0.0:0.0:1.0	.	321;350;345	F8WAG8;F5H2S7;Q13561	.;.;DCTN2_HUMAN	P	345;350;350;322;321;258;212	.	ENSP00000346785:Q321P	Q	-	2	0	DCTN2	56212150	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.474000	0.66781	2.210000	0.71456	0.533000	0.62120	CAG		0.473	DCTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407393.2	NM_006400		G	57925883	T	G	57925883	3	3	822	1	0	0	0	0	1	0	0	0	4309	1580	55	5	179	5	DCTN2	12	57925883	Missense_Mutation	SNP	T	TCGA-Y8-A8RZ-01A-11D-A36X-10	2961767	57925883	75926012	41	49477											
UBC	7316	hgsc.bcm.edu	37	12	125398244	125398244	+	Missense_Mutation	SNP	T	T	C			TCGA-Y8-A8RZ-01A-11D-A36X-10	TCGA-Y8-A8RZ-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	63f0d3c3-071e-44c7-863d-72f0242c5b93	2a0d89df-334c-4d21-ad1d-0040556032a0	g.chr12:125398244T>C	ENST00000538617.1	-	3	390	c.74A>G	c.(73-75)aAt>aGt	p.N25S	UBC_ENST00000536769.1_Missense_Mutation_p.N25S|UBC_ENST00000339647.5_Missense_Mutation_p.N25S|MIR5188_ENST00000583467.1_RNA|UBC_ENST00000536661.1_5'UTR|UBC_ENST00000546120.1_Missense_Mutation_p.N25S			P0CG48	UBC_HUMAN	ubiquitin C	405	Ubiquitin-like 1. {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)		TGCCTTGACATTCTCGATGGT	0.507																																																0													208	195	200					12																	125398244		2203	4300	6503	SO:0001583	missense	7316				CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"polyubiquitin-C"	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000538617.1:c.74A>G	chr12.hg19:g.125398244T>C	ENSP00000443053:p.Asn25Ser		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	ENST00000538617.1	hg19		.	.	.	.	.	.	.	.	.	.	-	15.27	2.784882	0.49997	.	.	ENSG00000150991	ENST00000536769;ENST00000535460;ENST00000538617;ENST00000541046;ENST00000339647;ENST00000546120;ENST00000544656;ENST00000541272;ENST00000540351;ENST00000541645;ENST00000535131;ENST00000546271;ENST00000540700;ENST00000535859;ENST00000542416	T;T;T;T;T;T;T;T;T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74;-0.74;-0.74;-0.74;-0.74;-0.74;-0.74;-0.74;-0.74	4.34	4.34	0.51931	Ubiquitin supergroup (1);Ubiquitin (2);	0.256216	0.22998	U	0.053119	T	0.71626	0.3362	N	0.12920	0.275	0.45427	D	0.998403	B;B;B	0.30870	0.164;0.103;0.298	B;P;P	0.49561	0.438;0.48;0.615	T	0.74970	-0.3482	10	0.87932	D	0	.	11.7986	0.52114	0.0:0.0:0.0:1.0	.	114;25;25	Q66K58;F5H7K6;P0CG48	.;.;UBC_HUMAN	S	25	ENSP00000441543:N25S;ENSP00000443053:N25S;ENSP00000344818:N25S;ENSP00000438394:N25S;ENSP00000440205:N25S;ENSP00000442800:N25S;ENSP00000445337:N25S;ENSP00000439492:N25S;ENSP00000438289:N25S;ENSP00000441238:N25S;ENSP00000437452:N25S;ENSP00000441556:N25S	ENSP00000344818:N25S	N	-	2	0	UBC	123964197	1.000000	0.71417	0.997000	0.53966	0.954000	0.61252	7.223000	0.78033	1.730000	0.51580	0.528000	0.53228	AAT		0.507	UBC-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000400179.1	NM_021009		C	125398244	T	C	125398244	3	2	822	1	0	0	0	0	1	0	0	0	16847	1493	52	3	1987	3	UBC	12	125398244	Missense_Mutation	SNP	T	TCGA-Y8-A8RZ-01A-11D-A36X-10	67472361	125398244	8453651	42	49478											
POLE	5426	hgsc.bcm.edu	37	12	133252404	133252404	+	Silent	SNP	A	A	G			TCGA-Y8-A8RZ-01A-11D-A36X-10	TCGA-Y8-A8RZ-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	63f0d3c3-071e-44c7-863d-72f0242c5b93	2a0d89df-334c-4d21-ad1d-0040556032a0	g.chr12:133252404A>G	ENST00000320574.5	-	11	1066	c.1023T>C	c.(1021-1023)gcT>gcC	p.A341A	POLE_ENST00000535270.1_Silent_p.A314A	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	341					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)	GGATCAGATGAGCCTGAACCC	0.488								DNA polymerases (catalytic subunits)																																								0													90	88	88					12																	133252404		2203	4300	6503	SO:0001819	synonymous_variant	5426				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.1023T>C	chr12.hg19:g.133252404A>G			Q13533|Q86VH9	Silent	SNP	ENST00000320574.5	hg19	CCDS9278.1																																																																																				0.488	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		G	133252404	A	G	133252404	2	3	822	1	0	0	0	0	0	0	0	1	12198	291	11	3		3	POLE	12	133252404	Silent	SNP	A	TCGA-Y8-A8RZ-01A-11D-A36X-10	7854160	133252404	599491	43	49479											
INTS6	26512	hgsc.bcm.edu	37	13	51952382	51952382	+	Missense_Mutation	SNP	A	A	G			TCGA-Y8-A8RZ-01A-11D-A36X-10	TCGA-Y8-A8RZ-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	63f0d3c3-071e-44c7-863d-72f0242c5b93	2a0d89df-334c-4d21-ad1d-0040556032a0	g.chr13:51952382A>G	ENST00000311234.4	-	12	2067	c.1595T>C	c.(1594-1596)cTg>cCg	p.L532P	INTS6_ENST00000490542.1_Missense_Mutation_p.L216P|INTS6_ENST00000497989.1_Missense_Mutation_p.L354P|INTS6_ENST00000398119.2_Missense_Mutation_p.L519P|INTS6_ENST00000463928.1_Intron|INTS6_ENST00000425000.1_Missense_Mutation_p.L100P	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	532					signal transduction (GO:0007165)|snRNA processing (GO:0016180)	actin cytoskeleton (GO:0015629)|integrator complex (GO:0032039)|nucleus (GO:0005634)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		TACCTTATTCAGCAAAGCAAC	0.363																																																0													142	137	139					13																	51952382		2203	4300	6503	SO:0001583	missense	26512			AF097645	CCDS9428.1, CCDS41890.1, CCDS45048.1	13q14.3	2010-08-20	2006-03-15	2006-03-15	ENSG00000102786	ENSG00000102786		"DEAD-boxes"	14879	protein-coding gene	gene with protein product		604331	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26"	DDX26		10467397, 16239144	Standard	XM_005266340		Approved	DICE1, HDB, Notchl2, DBI-1, DDX26A, INT6	uc001vfk.3	Q9UL03	OTTHUMG00000016945	ENST00000311234.4:c.1595T>C	chr13.hg19:g.51952382A>G	ENSP00000310260:p.Leu532Pro		Q0P664|Q6PJP4|Q9UFK0|Q9Y5M9	Missense_Mutation	SNP	ENST00000311234.4	hg19	CCDS9428.1	.	.	.	.	.	.	.	.	.	.	A	11.33	1.605479	0.28623	.	.	ENSG00000102786	ENST00000311234;ENST00000398119;ENST00000497989;ENST00000425000;ENST00000490542	T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.29288	0.0729	L	0.31294	0.92	0.80722	D	1	B	0.24823	0.112	B	0.27715	0.082	T	0.06215	-1.0839	10	0.33141	T	0.24	-3.8626	14.2307	0.65890	1.0:0.0:0.0:0.0	.	532	Q9UL03	INT6_HUMAN	P	532;519;354;100;216	ENSP00000310260:L532P;ENSP00000381187:L519P;ENSP00000419871:L354P;ENSP00000406915:L100P;ENSP00000419984:L216P	ENSP00000310260:L532P	L	-	2	0	INTS6	50850383	1.000000	0.71417	1.000000	0.80357	0.234000	0.25298	9.264000	0.95635	1.956000	0.56807	0.460000	0.39030	CTG		0.363	INTS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045023.1	NM_012141		G	51952382	A	G	51952382	3	3	822	1	0	0	0	0	1	0	0	0	7784	188	7	3	1096	3	INTS6	13	51952382	Missense_Mutation	SNP	A	TCGA-Y8-A8RZ-01A-11D-A36X-10		51952382	63217496	44	49480											
SCFD1	23256	hgsc.bcm.edu	37	14	31164021	31164021	+	Missense_Mutation	SNP	A	A	T			TCGA-Y8-A8RZ-01A-11D-A36X-10	TCGA-Y8-A8RZ-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	63f0d3c3-071e-44c7-863d-72f0242c5b93	2a0d89df-334c-4d21-ad1d-0040556032a0	g.chr14:31164021A>T	ENST00000458591.2	+	15	1512	c.1285A>T	c.(1285-1287)Atg>Ttg	p.M429L	SCFD1_ENST00000421551.3_Missense_Mutation_p.M370L|SCFD1_ENST00000554486.1_3'UTR|SCFD1_ENST00000541123.1_Missense_Mutation_p.M244L|SCFD1_ENST00000544052.2_Missense_Mutation_p.M362L|SCFD1_ENST00000396629.2_Missense_Mutation_p.M337L	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	429					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)		AGAAAAAATAATGAGCAAAAC	0.269																																																0													56	65	62					14																	31164021		2199	4289	6488	SO:0001583	missense	23256			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.1285A>T	chr14.hg19:g.31164021A>T	ENSP00000390783:p.Met429Leu		A8K2Z5|B7Z4U7|B7Z594|O60754|O94990|Q7Z529|Q9BZI3|Q9UNL3|Q9Y6A8	Missense_Mutation	SNP	ENST00000458591.2	hg19	CCDS9639.1	.	.	.	.	.	.	.	.	.	.	A	13.86	2.363162	0.41902	.	.	ENSG00000092108	ENST00000458591;ENST00000544052;ENST00000421551;ENST00000541123;ENST00000396629	T;T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.87;-0.87	5.95	4.79	0.61399	.	0.036511	0.85682	D	0.000000	T	0.64193	0.2576	L	0.35793	1.09	0.54753	D	0.999982	B;B;B;B	0.09022	0.0;0.002;0.002;0.002	B;B;B;B	0.13407	0.004;0.007;0.009;0.007	T	0.56595	-0.7953	10	0.22706	T	0.39	-10.3234	12.9787	0.58552	0.8647:0.1353:0.0:0.0	.	370;362;337;429	B7Z738;B7Z4U7;B7Z594;Q8WVM8	.;.;.;SCFD1_HUMAN	L	429;362;370;244;337	ENSP00000390783:M429L;ENSP00000443010:M362L;ENSP00000388078:M370L;ENSP00000443537:M244L;ENSP00000379870:M337L	ENSP00000309417:M437L	M	+	1	0	SCFD1	30233772	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.314000	0.78988	1.047000	0.40274	0.533000	0.62120	ATG		0.269	SCFD1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276612.3	NM_182835		T	31164021	A	T	31164021	3	4	822	1	0	0	0	0	1	0	0	0	13895	101	4	5	1343	5	SCFD1	14	31164021	Missense_Mutation	SNP	A	TCGA-Y8-A8RZ-01A-11D-A36X-10		31164021	76185519	45	49481											
AKAP13	11214	hgsc.bcm.edu	37	15	86122543	86122543	+	Missense_Mutation	SNP	T	T	C			TCGA-Y8-A8RZ-01A-11D-A36X-10	TCGA-Y8-A8RZ-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	63f0d3c3-071e-44c7-863d-72f0242c5b93	2a0d89df-334c-4d21-ad1d-0040556032a0	g.chr15:86122543T>C	ENST00000394518.2	+	7	1339	c.1244T>C	c.(1243-1245)cTt>cCt	p.L415P	AKAP13_ENST00000361243.2_Missense_Mutation_p.L415P|RP11-815J21.2_ENST00000561409.1_RNA	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	415					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						ACGGAAGGCCTTTCGTCCTGT	0.507																																					Melanoma(94;603 1453 3280 32295 32951)											0													72	79	77					15																	86122543		2202	4299	6501	SO:0001583	missense	11214			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"A-kinase anchor proteins", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	371	protein-coding gene	gene with protein product		604686	"lymphoid blast crisis oncogene"	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.1244T>C	chr15.hg19:g.86122543T>C	ENSP00000378026:p.Leu415Pro		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	hg19	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	T	11.76	1.734133	0.30684	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	T;T	0.15256	2.47;2.44	5.45	1.74	0.24563	.	.	.	.	.	T	0.13200	0.0320	N	0.24115	0.695	0.09310	N	0.999999	P;P	0.39883	0.567;0.693	B;B	0.43018	0.229;0.405	T	0.18053	-1.0349	9	0.66056	D	0.02	.	6.0258	0.19654	0.0:0.0831:0.3161:0.6008	.	415;415	Q12802;Q12802-2	AKP13_HUMAN;.	P	415;415;414;414	ENSP00000354718:L415P;ENSP00000378026:L415P	ENSP00000354718:L415P	L	+	2	0	AKAP13	83923547	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.266000	0.18534	0.093000	0.17368	-0.291000	0.09656	CTT		0.507	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		C	86122543	T	C	86122543	3	2	822	1	0	0	0	0	1	0	0	0	449	1609	56	3	1266	3	AKAP13	15	86122543	Missense_Mutation	SNP	T	TCGA-Y8-A8RZ-01A-11D-A36X-10		86122543	16408849	46	49482											
CLCN7	1186	hgsc.bcm.edu	37	16	1505758	1505760	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-Y8-A8RZ-01A-11D-A36X-10	TCGA-Y8-A8RZ-10A-01D-A370-10	AGA	AGA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	63f0d3c3-071e-44c7-863d-72f0242c5b93	2a0d89df-334c-4d21-ad1d-0040556032a0	g.chr16:1505758_1505760delAGA	ENST00000382745.4	-	11	1558_1560	c.953_955delTCT	c.(952-957)ttctgg>tgg	p.F318del	CLCN7_ENST00000262318.8_In_Frame_Del_p.F294del|CLCN7_ENST00000448525.1_In_Frame_Del_p.F294del	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	318			F -> L (in OPTA2). {ECO:0000269|PubMed:19953639}.		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)				AACTGGTTCCAGAAGGACGCACC	0.626																																																0																																										SO:0001651	inframe_deletion	1186			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.953_955delTCT	chr16.hg19:g.1505758_1505760delAGA	ENSP00000372193:p.Phe318del		A6NEJ7|A8K5T9|A8K7X1|B3KPN3|E9PDB9|Q9NYX5	In_Frame_Del	DEL	ENST00000382745.4	hg19	CCDS32361.1																																																																																				0.626	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103598.2	NM_001287		-	1505760	AGA	-	1505758	7	5	822	1	0	1	0	1	0	0	0	0	3470	188	7	0	1522	0	CLCN7	16	1505758	In_Frame_Del	DEL	AGA	TCGA-Y8-A8RZ-01A-11D-A36X-10		1505758	88848995	47	49483											
CNGB1	1258	hgsc.bcm.edu	37	16	57984325	57984325	+	Missense_Mutation	SNP	C	C	T			TCGA-Y8-A8RZ-01A-11D-A36X-10	TCGA-Y8-A8RZ-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	63f0d3c3-071e-44c7-863d-72f0242c5b93	2a0d89df-334c-4d21-ad1d-0040556032a0	g.chr16:57984325C>T	ENST00000251102.8	-	13	1054	c.994G>A	c.(994-996)Gct>Act	p.A332T	CNGB1_ENST00000564448.1_Missense_Mutation_p.A326T	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	332					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						TCTTCATAAGCTGGAACCACC	0.517																																					Colon(156;1293 1853 16336 28962 38659)											0													122	124	123					16																	57984325		2000	4159	6159	SO:0001583	missense	1258			AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2151	protein-coding gene	gene with protein product	"glutamic acid-rich protein"	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.994G>A	chr16.hg19:g.57984325C>T	ENSP00000251102:p.Ala332Thr		H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	ENST00000251102.8	hg19	CCDS42169.1	.	.	.	.	.	.	.	.	.	.	C	12.47	1.948067	0.34377	.	.	ENSG00000070729	ENST00000251102	T	0.22134	1.97	4.16	0.746	0.18365	.	.	.	.	.	T	0.14313	0.0346	L	0.38175	1.15	0.09310	N	1	B	0.14438	0.01	B	0.10450	0.005	T	0.26326	-1.0106	9	0.48119	T	0.1	.	3.9774	0.09479	0.0:0.5783:0.1979:0.2237	.	332	Q14028	CNGB1_HUMAN	T	332	ENSP00000251102:A332T	ENSP00000251102:A332T	A	-	1	0	CNGB1	56541826	0.000000	0.05858	0.001000	0.08648	0.117000	0.20001	0.544000	0.23253	0.472000	0.27344	0.563000	0.77884	GCT		0.517	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297		T	57984325	C	T	57984325	3	4	822	1	0	0	0	0	1	0	0	0	3602	797	28	2	2845	2	CNGB1	16	57984325	Missense_Mutation	SNP	C	TCGA-Y8-A8RZ-01A-11D-A36X-10	56478567	57984325	32370428	48	49484											
NF1	4763	hgsc.bcm.edu	37	17	29527522	29527522	+	Missense_Mutation	SNP	G	G	C			TCGA-Y8-A8RZ-01A-11D-A36X-10	TCGA-Y8-A8RZ-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	63f0d3c3-071e-44c7-863d-72f0242c5b93	2a0d89df-334c-4d21-ad1d-0040556032a0	g.chr17:29527522G>C	ENST00000358273.4	+	9	1354	c.971G>C	c.(970-972)tGt>tCt	p.C324S	NF1_ENST00000431387.4_Missense_Mutation_p.C324S|NF1_ENST00000356175.3_Missense_Mutation_p.C324S	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	324			C -> R (in NF1; dbSNP:rs199474735). {ECO:0000269|PubMed:15060124}.		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)		GCAATTGCCTGTGTCAAACTG	0.408			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	14	Whole gene deletion(8)|Unknown(6)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(3)|lung(1)											124	105	112					17																	29527522		2203	4300	6503	SO:0001583	missense	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.971G>C	chr17.hg19:g.29527522G>C	ENSP00000351015:p.Cys324Ser		O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	hg19	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.316574	0.60524	.	.	ENSG00000196712	ENST00000431387;ENST00000358273;ENST00000356175	T;T;T	0.64618	2.82;-0.11;-0.11	5.39	5.39	0.77823	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.60741	0.2292	L	0.51422	1.61	0.80722	D	1	B;B;B;B;B	0.17268	0.021;0.0;0.0;0.004;0.002	B;B;B;B;B	0.17098	0.017;0.003;0.004;0.003;0.003	T	0.57625	-0.7779	10	0.52906	T	0.07	.	19.1503	0.93485	0.0:0.0:1.0:0.0	.	324;324;324;324;324	E1P657;P21359-2;P21359;Q14931;P21359-3	.;.;NF1_HUMAN;.;.	S	324	ENSP00000412921:C324S;ENSP00000351015:C324S;ENSP00000348498:C324S	ENSP00000348498:C324S	C	+	2	0	NF1	26551648	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.082000	0.94059	2.542000	0.85734	0.591000	0.81541	TGT		0.408	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		C	29527522	G	C	29527522	3	2	822	1	0	0	0	0	1	0	0	0	10358	1377	48	4	1005	4	NF1	17	29527522	Missense_Mutation	SNP	G	TCGA-Y8-A8RZ-01A-11D-A36X-10		29527522	51667688	49	49485											
ABCC3	8714	hgsc.bcm.edu	37	17	48738388	48738388	+	Missense_Mutation	SNP	T	T	A			TCGA-Y8-A8RZ-01A-11D-A36X-10	TCGA-Y8-A8RZ-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	63f0d3c3-071e-44c7-863d-72f0242c5b93	2a0d89df-334c-4d21-ad1d-0040556032a0	g.chr17:48738388T>A	ENST00000285238.8	+	8	991	c.911T>A	c.(910-912)cTg>cAg	p.L304Q	ABCC3_ENST00000427699.1_Missense_Mutation_p.L304Q	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	304					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)	AAGGCCCTGCTGGCCACCTTC	0.617																																																0													52	45	47					17																	48738388		2203	4300	6503	SO:0001583	missense	8714			Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"ATP binding cassette transporters / subfamily C"	54	protein-coding gene	gene with protein product	"canalicular multispecific organic anion transporter 2"	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.911T>A	chr17.hg19:g.48738388T>A	ENSP00000285238:p.Leu304Gln		B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Missense_Mutation	SNP	ENST00000285238.8	hg19	CCDS32681.1	.	.	.	.	.	.	.	.	.	.	T	10.73	1.431575	0.25813	.	.	ENSG00000108846	ENST00000427699;ENST00000285238	D;D	0.95756	-2.58;-3.8	5.18	2.91	0.33838	ABC transporter, transmembrane domain, type 1 (1);	1.527580	0.04347	N	0.355032	D	0.95040	0.8394	M	0.74467	2.265	0.09310	N	1	P;P	0.43885	0.694;0.82	B;B	0.43575	0.388;0.424	D	0.83488	0.0068	10	0.36615	T	0.2	-0.3139	6.5554	0.22458	0.1376:0.076:0.0:0.7865	.	304;304	O15438;O15438-5	MRP3_HUMAN;.	Q	304	ENSP00000395160:L304Q;ENSP00000285238:L304Q	ENSP00000285238:L304Q	L	+	2	0	ABCC3	46093387	0.001000	0.12720	0.002000	0.10522	0.170000	0.22686	1.077000	0.30741	0.273000	0.22049	-0.669000	0.03829	CTG		0.617	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2	NM_020038		A	48738388	T	A	48738388	3	1	822	1	0	0	0	0	1	0	0	0	54	1580	55	5	941	5	ABCC3	17	48738388	Missense_Mutation	SNP	T	TCGA-Y8-A8RZ-01A-11D-A36X-10	19210866	48738388	32456822	50	49486											
SMURF2	64750	hgsc.bcm.edu	37	17	62542409	62542409	+	Missense_Mutation	SNP	T	T	C			TCGA-Y8-A8RZ-01A-11D-A36X-10	TCGA-Y8-A8RZ-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	63f0d3c3-071e-44c7-863d-72f0242c5b93	2a0d89df-334c-4d21-ad1d-0040556032a0	g.chr17:62542409T>C	ENST00000262435.9	-	18	2306	c.2119A>G	c.(2119-2121)Act>Gct	p.T707A		NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	707	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				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)			AGGTTGTTAGTGCAGGCATCA	0.443																																																0													138	117	124					17																	62542409		2203	4300	6503	SO:0001583	missense	64750			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.2119A>G	chr17.hg19:g.62542409T>C	ENSP00000262435:p.Thr707Ala		Q52LL1|Q9H260	Missense_Mutation	SNP	ENST00000262435.9	hg19	CCDS32707.1	.	.	.	.	.	.	.	.	.	.	T	2.270	-0.367160	0.05069	.	.	ENSG00000108854	ENST00000262435	T	0.57273	0.41	5.62	4.53	0.55603	HECT (4);	0.102243	0.64402	N	0.000003	T	0.45577	0.1349	L	0.52759	1.655	0.80722	D	1	B	0.02656	0.0	B	0.09377	0.004	T	0.30268	-0.9984	10	0.32370	T	0.25	.	11.3438	0.49548	0.0:0.0711:0.0:0.9289	.	707	Q9HAU4	SMUF2_HUMAN	A	707	ENSP00000262435:T707A	ENSP00000262435:T707A	T	-	1	0	SMURF2	59972871	1.000000	0.71417	0.998000	0.56505	0.217000	0.24651	4.099000	0.57755	0.955000	0.37878	0.402000	0.26972	ACT		0.443	SMURF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445227.1	NM_022739		C	62542409	T	C	62542409	3	2	822	1	0	0	0	0	1	0	0	0	14826	1696	59	3	135	3	SMURF2	17	62542409	Missense_Mutation	SNP	T	TCGA-Y8-A8RZ-01A-11D-A36X-10	13804021	62542409	18652801	51	49487											
HGS	9146	hgsc.bcm.edu	37	17	79660684	79660684	+	Splice_Site	SNP	C	C	T			TCGA-Y8-A8RZ-01A-11D-A36X-10	TCGA-Y8-A8RZ-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	63f0d3c3-071e-44c7-863d-72f0242c5b93	2a0d89df-334c-4d21-ad1d-0040556032a0	g.chr17:79660684C>T	ENST00000329138.4	+	10	877	c.742C>T	c.(742-744)Ctg>Ttg	p.L248L		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	248	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)			TTGTCCTCAGCTGCCCCCCAA	0.701																																																0													10	11	11					17																	79660684		2149	4193	6342	SO:0001630	splice_region_variant	9146			D84064	CCDS11784.1	17q25	2009-04-29				ENSG00000185359		"Zinc fingers, FYVE domain containing"	4897	protein-coding gene	gene with protein product		604375				9407053, 9630564	Standard	NM_004712		Approved	Hrs, ZFYVE8, Vps27	uc002kbg.3	O14964		ENST00000329138.4:c.742-1C>T	chr17.hg19:g.79660684C>T			Q9NR36	Silent	SNP	ENST00000329138.4	hg19	CCDS11784.1																																																																																				0.701	HGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440541.1	NM_004712	Silent	T	79660684	C	T	79660684	5	4	822	1	0	0	0	0	0	0	1	0	7089	811	28	2	780	2	HGS	17	79660684	Splice_Site	SNP	C	TCGA-Y8-A8RZ-01A-11D-A36X-10	17118275	79660684	1534526	52	49488											
APCDD1	147495	hgsc.bcm.edu	37	18	10471923	10471923	+	Silent	SNP	G	G	C			TCGA-Y8-A8RZ-01A-11D-A36X-10	TCGA-Y8-A8RZ-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	63f0d3c3-071e-44c7-863d-72f0242c5b93	2a0d89df-334c-4d21-ad1d-0040556032a0	g.chr18:10471923G>C	ENST00000355285.5	+	3	993	c.639G>C	c.(637-639)cgG>cgC	p.R213R	APCDD1_ENST00000578882.1_Intron	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)		AGCTCATCCGGGTGGAGAAGC	0.577																																																0													136	124	128					18																	10471923		2203	4300	6503	SO:0001819	synonymous_variant	147495			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.639G>C	chr18.hg19:g.10471923G>C				Silent	SNP	ENST00000355285.5	hg19	CCDS11849.1																																																																																				0.577	APCDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254529.2	NM_153000		C	10471923	G	C	10471923	2	2	822	1	0	0	0	0	0	0	0	1	765	1219	43	4		4	APCDD1	18	10471923	Silent	SNP	G	TCGA-Y8-A8RZ-01A-11D-A36X-10		10471923	67605325	53	49489											
KANK3	256949	hgsc.bcm.edu	37	19	8389663	8389663	+	Missense_Mutation	SNP	C	C	T			TCGA-Y8-A8RZ-01A-11D-A36X-10	TCGA-Y8-A8RZ-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	63f0d3c3-071e-44c7-863d-72f0242c5b93	2a0d89df-334c-4d21-ad1d-0040556032a0	g.chr19:8389663C>T	ENST00000593649.1	-	9	2199	c.2134G>A	c.(2134-2136)Gtg>Atg	p.V712M	KANK3_ENST00000330915.3_Missense_Mutation_p.V712M			Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	712										breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						AGGGTTGCCACCATGTCCTGT	0.642																																																0													51	41	45					19																	8389663		2203	4300	6503	SO:0001583	missense	256949			AK128815	CCDS12199.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000186994		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	24796	protein-coding gene	gene with protein product		614611	"ankyrin repeat domain 47"	ANKRD47		17996375, 19554261	Standard	NM_198471		Approved	FLJ46061	uc010dwa.3	Q6NY19		ENST00000593649.1:c.2134G>A	chr19.hg19:g.8389663C>T	ENSP00000470728:p.Val712Met		Q6NZI1|Q6ZQR3|Q8IUV2	Missense_Mutation	SNP	ENST00000593649.1	hg19		.	.	.	.	.	.	.	.	.	.	C	22.6	4.317784	0.81469	.	.	ENSG00000186994	ENST00000330915	T	0.71222	-0.55	4.67	4.67	0.58626	.	.	.	.	.	D	0.82618	0.5076	M	0.69463	2.115	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.84855	0.0816	9	0.87932	D	0	-25.0819	16.3	0.82806	0.0:1.0:0.0:0.0	.	712	Q6NY19-2	.	M	712	ENSP00000328923:V712M	ENSP00000328923:V712M	V	-	1	0	KANK3	8295663	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	7.513000	0.81739	2.416000	0.81992	0.561000	0.74099	GTG		0.642	KANK3-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000461379.1	NM_198471		T	8389663	C	T	8389663	3	4	822	1	0	0	0	0	1	0	0	0	7980	507	18	2	343	2	KANK3	19	8389663	Missense_Mutation	SNP	C	TCGA-Y8-A8RZ-01A-11D-A36X-10		8389663	50739320	54	49490											
TMED1	11018	hgsc.bcm.edu	37	19	10945667	10945667	+	Silent	SNP	T	T	C			TCGA-Y8-A8RZ-01A-11D-A36X-10	TCGA-Y8-A8RZ-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	63f0d3c3-071e-44c7-863d-72f0242c5b93	2a0d89df-334c-4d21-ad1d-0040556032a0	g.chr19:10945667T>C	ENST00000214869.2	-	3	506	c.408A>G	c.(406-408)ggA>ggG	p.G136G	TMED1_ENST00000588289.1_5'UTR|C19orf38_ENST00000592854.1_5'Flank|TMED1_ENST00000591695.1_Intron	NM_006858.2	NP_006849.1	Q13445	TMED1_HUMAN	transmembrane emp24 protein transport domain containing 1	136					cell-cell signaling (GO:0007267)|protein transport (GO:0015031)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|lung(2)|ovary(3)|prostate(1)|skin(1)	10						CCTCTGCCCATCCTTCGACCT	0.542																																																0													166	154	158					19																	10945667		2203	4300	6503	SO:0001819	synonymous_variant	11018			U41804	CCDS12249.1	19p13.2	2008-02-05	2005-08-26			ENSG00000099203			17291	protein-coding gene	gene with protein product		605395	"transmembrane emp24 domain containing 1"			11466339, 8621446	Standard	NM_006858		Approved	ST2L, MGC1270, IL1RL1LG, Il1rl1l	uc002mpy.3	Q13445		ENST00000214869.2:c.408A>G	chr19.hg19:g.10945667T>C				Silent	SNP	ENST00000214869.2	hg19	CCDS12249.1																																																																																				0.542	TMED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452614.1	NM_006858		C	10945667	T	C	10945667	2	2	822	1	0	0	0	0	0	0	0	1	16007	1422	50	3		3	TMED1	19	10945667	Silent	SNP	T	TCGA-Y8-A8RZ-01A-11D-A36X-10	2556004	10945667	48183316	55	49491											
USP29	57663	hgsc.bcm.edu	37	19	57642200	57642200	+	Silent	SNP	A	A	G	rs562830906		TCGA-Y8-A8RZ-01A-11D-A36X-10	TCGA-Y8-A8RZ-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	63f0d3c3-071e-44c7-863d-72f0242c5b93	2a0d89df-334c-4d21-ad1d-0040556032a0	g.chr19:57642200A>G	ENST00000254181.4	+	4	2611	c.2157A>G	c.(2155-2157)aaA>aaG	p.K719K	USP29_ENST00000598197.1_Silent_p.K719K	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	719	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)		ATGACTGTAAAGAAAACAGGA	0.423																																																0													73	71	72					19																	57642200		2203	4300	6503	SO:0001819	synonymous_variant	57663				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.2157A>G	chr19.hg19:g.57642200A>G				Silent	SNP	ENST00000254181.4	hg19	CCDS33124.1																																																																																				0.423	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			G	57642200	A	G	57642200	2	3	822	1	0	0	0	0	0	0	0	1	17064	69	3	3		3	USP29	19	57642200	Silent	SNP	A	TCGA-Y8-A8RZ-01A-11D-A36X-10	46696533	57642200	1486783	56	49492											
ZNF544	27300	hgsc.bcm.edu	37	19	58772847	58772847	+	Missense_Mutation	SNP	A	A	C			TCGA-Y8-A8RZ-01A-11D-A36X-10	TCGA-Y8-A8RZ-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	63f0d3c3-071e-44c7-863d-72f0242c5b93	2a0d89df-334c-4d21-ad1d-0040556032a0	g.chr19:58772847A>C	ENST00000596652.1	+	6	1109	c.875A>C	c.(874-876)cAt>cCt	p.H292P	ZNF544_ENST00000599953.1_Missense_Mutation_p.H150P|ZNF544_ENST00000600044.1_Missense_Mutation_p.H264P|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000596825.1_3'UTR|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000269829.4_Missense_Mutation_p.H292P|ZNF544_ENST00000415203.2_Missense_Mutation_p.H264P|ZNF544_ENST00000596929.1_Intron|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000600220.1_Missense_Mutation_p.H264P			Q6NX49	ZN544_HUMAN	zinc finger protein 544	292					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)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		AAGCCAGTGCATTTTGGGAAA	0.443																																																0													71	70	71					19																	58772847		2203	4300	6503	SO:0001583	missense	27300			AF020591	CCDS12973.1	19q13.43	2013-01-08				ENSG00000198131		"Zinc fingers, C2H2-type", "-"	16759	protein-coding gene	gene with protein product	"zinc finger protein AF020591"						Standard	NM_014480		Approved	AF020591	uc010euo.3	Q6NX49		ENST00000596652.1:c.875A>C	chr19.hg19:g.58772847A>C	ENSP00000469635:p.His292Pro		A8K6J1|Q9UEX4	Missense_Mutation	SNP	ENST00000596652.1	hg19	CCDS12973.1	.	.	.	.	.	.	.	.	.	.	A	11.31	1.599650	0.28534	.	.	ENSG00000198131	ENST00000269829;ENST00000415203	T;T	0.29142	1.58;1.58	3.37	-3.78	0.04333	.	.	.	.	.	T	0.49626	0.1568	M	0.84585	2.705	0.09310	N	1	B;D;D	0.89917	0.001;1.0;0.963	B;D;P	0.68192	0.001;0.956;0.468	T	0.43180	-0.9407	9	0.62326	D	0.03	.	5.5574	0.17123	0.3664:0.4309:0.2027:0.0	.	264;264;292	B7ZAY1;B4DL50;Q6NX49	.;.;ZN544_HUMAN	P	292;264	ENSP00000269829:H292P;ENSP00000394341:H264P	ENSP00000269829:H292P	H	+	2	0	ZNF544	63464659	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.063000	0.11655	-0.641000	0.05487	0.533000	0.62120	CAT		0.443	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466754.1	NM_014480		C	58772847	A	C	58772847	3	2	822	1	0	0	0	0	1	0	0	0	17982	217	8	5	889	5	ZNF544	19	58772847	Missense_Mutation	SNP	A	TCGA-Y8-A8RZ-01A-11D-A36X-10	1130647	58772847	356136	57	49493											
PCSK2	5126	hgsc.bcm.edu	37	20	17462589	17462589	+	Silent	SNP	C	C	T			TCGA-Y8-A8RZ-01A-11D-A36X-10	TCGA-Y8-A8RZ-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	63f0d3c3-071e-44c7-863d-72f0242c5b93	2a0d89df-334c-4d21-ad1d-0040556032a0	g.chr20:17462589C>T	ENST00000262545.2	+	12	2106	c.1791C>T	c.(1789-1791)gcC>gcT	p.A597A	PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000536609.1_Silent_p.A562A|PCSK2_ENST00000377899.1_Silent_p.A578A	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	597					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)"	CTCAGAGTGCCCCGTACATCG	0.622																																																0													32	29	30					20																	17462589		2203	4300	6503	SO:0001819	synonymous_variant	5126			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.1791C>T	chr20.hg19:g.17462589C>T			B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Silent	SNP	ENST00000262545.2	hg19	CCDS13125.1																																																																																				0.622	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594		T	17462589	C	T	17462589	2	4	822	1	0	0	0	0	0	0	0	1	11603	610	22	2		2	PCSK2	20	17462589	Silent	SNP	C	TCGA-Y8-A8RZ-01A-11D-A36X-10		17462589	45562931	58	49494											
MAGEA4	4103	hgsc.bcm.edu	37	X	151092151	151092151	+	Silent	SNP	G	G	A			TCGA-Y8-A8RZ-01A-11D-A36X-10	TCGA-Y8-A8RZ-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	63f0d3c3-071e-44c7-863d-72f0242c5b93	2a0d89df-334c-4d21-ad1d-0040556032a0	g.chrX:151092151G>A	ENST00000360243.2	+	3	282	c.15G>A	c.(13-15)caG>caA	p.Q5Q	MAGEA4_ENST00000370337.4_Silent_p.Q5Q|MAGEA4_ENST00000370340.3_Silent_p.Q5Q|MAGEA4_ENST00000276344.2_Silent_p.Q5Q|MAGEA4_ENST00000393921.1_Silent_p.Q5Q|MAGEA4_ENST00000393920.1_Silent_p.Q5Q|MAGEA4_ENST00000370335.1_Silent_p.Q5Q	NM_001011550.1	NP_001011550.1	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	5										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)					CTTCTGAGCAGAAGAGTCAGC	0.602																																																0													44	43	43					X																	151092151		2203	4300	6503	SO:0001819	synonymous_variant	4103				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.15G>A	chrX.hg19:g.151092151G>A			Q14798	Silent	SNP	ENST00000360243.2	hg19	CCDS14702.1																																																																																				0.602	MAGEA4-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060898.1	NM_002362		A	151092151	G	A	151092151	2	1	822	1	0	0	0	0	0	0	0	1	9170	933	33	2		2	MAGEA4	23	151092151	Silent	SNP	G	TCGA-Y8-A8RZ-01A-11D-A36X-10		151092151	4178409	59	49495											
LCE2C	353140	hgsc.bcm.edu	37	1	152648496	152648496	+	Missense_Mutation	SNP	C	C	T			TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chr1:152648496C>T	ENST00000368783.1	+	2	60	c.5C>T	c.(4-6)tCt>tTt	p.S2F	LCE2B_ENST00000417924.2_Intron	NM_178429.2	NP_848516.1	Q5TA81	LCE2C_HUMAN	late cornified envelope 2C	2					keratinization (GO:0031424)					endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCAGCATGTCTTGCCAGCAA	0.448																																																0													106	116	112					1																	152648496		2203	4300	6503	SO:0001583	missense	353140				CCDS1019.1	1q21.3	2008-02-05			ENSG00000187180	ENSG00000187180		"Late cornified envelopes"	29460	protein-coding gene	gene with protein product		612611				11698679	Standard	NM_178429		Approved	LEP11	uc001fah.4	Q5TA81	OTTHUMG00000012389	ENST00000368783.1:c.5C>T	chr1.hg19:g.152648496C>T	ENSP00000357772:p.Ser2Phe			Missense_Mutation	SNP	ENST00000368783.1	hg19	CCDS1019.1	.	.	.	.	.	.	.	.	.	.	C	6.631	0.484808	0.12641	.	.	ENSG00000187180	ENST00000368783	T	0.06371	3.31	3.27	2.34	0.29019	.	.	.	.	.	T	0.03695	0.0105	M	0.79805	2.47	0.23776	N	0.996871	B	0.09022	0.002	B	0.10450	0.005	T	0.32613	-0.9900	9	0.87932	D	0	.	6.3247	0.21237	0.0:0.8572:0.0:0.1428	.	2	Q5TA81	LCE2C_HUMAN	F	2	ENSP00000357772:S2F	ENSP00000357772:S2F	S	+	2	0	LCE2C	150915120	1.000000	0.71417	0.993000	0.49108	0.731000	0.41821	2.058000	0.41374	0.703000	0.31848	0.563000	0.77884	TCT		0.448	LCE2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034509.1	NM_178429		T	152648496	C	T	152648496	3	4	823	1	0	0	0	0	1	0	0	0	8669	913	32	2	7	2	LCE2C	1	152648496	Missense_Mutation	SNP	C	TCGA-Y8-A8S0-01A-11D-A36X-10		152648496	96602125	1	49496											
OLFML2B	25903	hgsc.bcm.edu	37	1	161993092	161993092	+	Missense_Mutation	SNP	C	C	G			TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chr1:161993092C>G	ENST00000294794.3	-	1	552	c.129G>C	c.(127-129)gaG>gaC	p.E43D	OLFML2B_ENST00000367940.2_Missense_Mutation_p.E43D	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	43					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)			TTTGCAGAGTCTCGTCCTCCG	0.597																																																0													149	126	134					1																	161993092		2203	4300	6503	SO:0001583	missense	25903			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.129G>C	chr1.hg19:g.161993092C>G	ENSP00000294794:p.Glu43Asp		B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Missense_Mutation	SNP	ENST00000294794.3	hg19	CCDS1236.1	.	.	.	.	.	.	.	.	.	.	C	11.79	1.742353	0.30865	.	.	ENSG00000162745	ENST00000294794;ENST00000367940	T;T	0.50548	0.74;0.74	4.96	1.86	0.25419	.	.	.	.	.	T	0.10852	0.0265	N	0.08118	0	0.24182	N	0.995582	B;B	0.15930	0.015;0.004	B;B	0.12156	0.007;0.003	T	0.16571	-1.0398	8	0.19147	T	0.46	.	12.6021	0.56503	0.0:0.4827:0.5173:0.0	.	43;43	F2Z3N3;Q68BL8	.;OLM2B_HUMAN	D	43	ENSP00000294794:E43D;ENSP00000356917:E43D	ENSP00000294794:E43D	E	-	3	2	OLFML2B	160259716	0.911000	0.30947	0.412000	0.26496	0.824000	0.46624	0.373000	0.20484	0.209000	0.20645	0.561000	0.74099	GAG		0.597	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441		G	161993092	C	G	161993092	3	3	823	1	0	0	0	0	1	0	0	0	10860	912	32	4	2155	4	OLFML2B	1	161993092	Missense_Mutation	SNP	C	TCGA-Y8-A8S0-01A-11D-A36X-10	9344596	161993092	87257529	2	49497											
PPP1R12B	4660	hgsc.bcm.edu	37	1	202418132	202418132	+	Silent	SNP	C	C	G			TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chr1:202418132C>G	ENST00000608999.1	+	13	1836	c.1683C>G	c.(1681-1683)tcC>tcG	p.S561S	PPP1R12B_ENST00000336894.4_Silent_p.S561S	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	561					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			CTCACAAATCCCAGGCCGACA	0.468																																																0													99	96	97					1																	202418132		2203	4300	6503	SO:0001819	synonymous_variant	4660			AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	7619	protein-coding gene	gene with protein product	"myosin phosphatase regulatory subunit", "myosin phosphatase, target subunit 2"	603768	"protein phosphatase 1, regulatory (inhibitor) subunit 12B"	MYPT2		9570949	Standard	NM_002481		Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.1683C>G	chr1.hg19:g.202418132C>G			A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Silent	SNP	ENST00000608999.1	hg19	CCDS1426.1																																																																																				0.468	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000099166.3	NM_032105		G	202418132	C	G	202418132	2	3	823	1	0	0	0	0	0	0	0	1	12360	610	22	4		4	PPP1R12B	1	202418132	Silent	SNP	C	TCGA-Y8-A8S0-01A-11D-A36X-10	40425040	202418132	46832489	3	49498											
KCNH1	3756	hgsc.bcm.edu	37	1	210857406	210857406	+	Silent	SNP	C	C	A			TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chr1:210857406C>A	ENST00000271751.4	-	11	2214	c.2187G>T	c.(2185-2187)ctG>ctT	p.L729L	KCNH1_ENST00000367007.4_Silent_p.L702L			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	729	Calmodulin-binding.				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)		GGGGCAAGATCAGGGGGGCCT	0.577																																																0													59	59	59					1																	210857406		2203	4300	6503	SO:0001819	synonymous_variant	3756			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.2187G>T	chr1.hg19:g.210857406C>A			B1AQ26|O76035|Q14CL3	Silent	SNP	ENST00000271751.4	hg19	CCDS1496.1																																																																																				0.577	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238		A	210857406	C	A	210857406	2	1	823	1	0	0	0	0	0	0	0	1	8033	813	29	4		4	KCNH1	1	210857406	Silent	SNP	C	TCGA-Y8-A8S0-01A-11D-A36X-10	8439274	210857406	38393215	4	49499											
GTF3C2	2976	hgsc.bcm.edu	37	2	27556578	27556578	+	Missense_Mutation	SNP	C	C	T			TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chr2:27556578C>T	ENST00000359541.2	-	12	2105	c.1676G>A	c.(1675-1677)aGc>aAc	p.S559N	AC109828.1_ENST00000592265.1_RNA|GTF3C2_ENST00000264720.3_Missense_Mutation_p.S559N|AC109828.1_ENST00000585326.1_RNA|AC109828.1_ENST00000608473.1_RNA|AC109828.1_ENST00000416453.2_RNA			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	559					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAGGCCAGGCTAAGGCACTG	0.473																																																0													120	123	122					2																	27556578		2203	4300	6503	SO:0001583	missense	2976			D13636	CCDS1749.1	2p23.3	2013-01-10	2002-08-29		ENSG00000115207	ENSG00000115207		"General transcription factors", "WD repeat domain containing"	4665	protein-coding gene	gene with protein product		604883	"general transcription factor IIIC, polypeptide 2 (beta subunit, 110kD)"			7729686	Standard	NM_001521		Approved	KIAA0011, TFIIIC110	uc002rjw.2	Q8WUA4	OTTHUMG00000097785	ENST00000359541.2:c.1676G>A	chr2.hg19:g.27556578C>T	ENSP00000352536:p.Ser559Asn		D6W557|Q16632|Q9BWI7	Silent	SNP	ENST00000359541.2	hg19	CCDS1749.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.81|15.81	2.943988|2.943988	0.53079|0.53079	.|.	.|.	ENSG00000115207|ENSG00000115207	ENST00000454704|ENST00000359541;ENST00000264720	.|T;T	.|0.68025	.|-0.3;-0.3	5.39|5.39	4.48|4.48	0.54585|0.54585	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.|0.237726	.|0.43110	.|D	.|0.000610	T|T	0.60209|0.60209	0.2251|0.2251	L|L	0.36672|0.36672	1.1|1.1	0.30311|0.30311	N|N	0.788563|0.788563	.|P;P	.|0.52316	.|0.952;0.651	.|P;B	.|0.46452	.|0.517;0.212	T|T	0.62044|0.62044	-0.6937|-0.6937	5|10	.|0.37606	.|T	.|0.19	-12.0259|-12.0259	12.7939|12.7939	0.57549|0.57549	0.0:0.702:0.298:0.0|0.0:0.702:0.298:0.0	.|.	.|559;559	.|Q8WUA4-2;Q8WUA4	.|.;TF3C2_HUMAN	T|N	68|559	.|ENSP00000352536:S559N;ENSP00000264720:S559N	.|ENSP00000264720:S559N	A|S	-|-	1|2	0|0	GTF3C2|GTF3C2	27410082|27410082	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.290000|2.290000	0.43531|0.43531	2.537000|2.537000	0.85549|0.85549	0.655000|0.655000	0.94253|0.94253	GCC|AGC		0.473	GTF3C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215028.2			T	27556578	C	T	27556578	3	4	823	1	0	0	0	0	1	0	0	0	6875	797	28	2	1091	2	GTF3C2	2	27556578	Missense_Mutation	SNP	C	TCGA-Y8-A8S0-01A-11D-A36X-10		27556578	215642795	5	49500											
NEB	4703	hgsc.bcm.edu	37	2	152359933	152359933	+	Frame_Shift_Del	DEL	C	C	-			TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chr2:152359933delC	ENST00000172853.10	-	138	18809	c.18662delG	c.(18661-18663)ggafs	p.G6221fs	NEB_ENST00000498015.2_Intron|NEB_ENST00000604864.1_Frame_Shift_Del_p.G7922fs|NEB_ENST00000603639.1_Frame_Shift_Del_p.G7922fs|NEB_ENST00000509223.2_Frame_Shift_Del_p.G52fs|NEB_ENST00000397336.2_5'UTR|NEB_ENST00000427231.2_Frame_Shift_Del_p.G7922fs|NEB_ENST00000409198.1_Frame_Shift_Del_p.G6221fs|NEB_ENST00000397345.3_Frame_Shift_Del_p.G7922fs			P20929	NEBU_HUMAN	nebulin	6221					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)		AATGCCTGTTCCCAAGTTTTC	0.363																																																0													89	85	86					2																	152359933		1833	4091	5924	SO:0001589	frameshift_variant	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.18662delG	chr2.hg19:g.152359933delC	ENSP00000172853:p.Gly6221fs		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Frame_Shift_Del	DEL	ENST00000172853.10	hg19																																																																																					0.363	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		-	152359933	C	-	152359933	7	5	823	1	0	1	0	1	0	0	0	0	10304	855	30	0	1880	0	NEB	2	152359933	Frame_Shift_Del	DEL	C	TCGA-Y8-A8S0-01A-11D-A36X-10	124803355	152359933	90839440	6	49501											
PASK	23178	hgsc.bcm.edu	37	2	242077491	242077491	+	Silent	SNP	C	C	T	rs374396215		TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chr2:242077491C>T	ENST00000405260.1	-	6	1451	c.753G>A	c.(751-753)acG>acA	p.T251T	PASK_ENST00000403638.3_Silent_p.T251T|PASK_ENST00000544142.1_Silent_p.T65T|PASK_ENST00000358649.4_Silent_p.T251T|PASK_ENST00000539818.1_Silent_p.T35T|PASK_ENST00000234040.4_Silent_p.T251T	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	251					negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|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;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		TGTCACATGACGTGACGGTGC	0.502																																																0													122	96	105					2																	242077491		2203	4300	6503	SO:0001819	synonymous_variant	23178			U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.753G>A	chr2.hg19:g.242077491C>T			G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Silent	SNP	ENST00000405260.1	hg19	CCDS2545.1	.	.	.	.	.	.	.	.	.	.	C	0.164	-1.078021	0.01903	.	.	ENSG00000115687	ENST00000433589	.	.	.	4.63	-8.3	0.01005	.	.	.	.	.	T	0.27169	0.0666	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.30679	-0.9970	4	.	.	.	.	9.3571	0.38173	0.1144:0.1683:0.0:0.7173	.	.	.	.	H	66	.	.	R	-	2	0	PASK	241726164	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.195000	0.01242	-1.859000	0.01156	-0.907000	0.02831	CGT		0.502	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		T	242077491	C	T	242077491	2	4	823	1	0	0	0	0	0	0	0	1	11474	523	19	1		1	PASK	2	242077491	Silent	SNP	C	TCGA-Y8-A8S0-01A-11D-A36X-10	89717558	242077491	1121882	7	49502											
DLEC1	9940	hgsc.bcm.edu	37	3	38103779	38103779	+	Missense_Mutation	SNP	G	G	A			TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chr3:38103779G>A	ENST00000308059.6	+	4	814	c.793G>A	c.(793-795)Gat>Aat	p.D265N	DLEC1_ENST00000452631.2_Missense_Mutation_p.D265N|DLEC1_ENST00000346219.3_Missense_Mutation_p.D265N					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		TGAGTTCGAAGATGAGTTAGA	0.458																																																0													88	82	84					3																	38103779		1982	4173	6155	SO:0001583	missense	9940			AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"cilia and flagella associated protein 81"	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.793G>A	chr3.hg19:g.38103779G>A	ENSP00000308597:p.Asp265Asn			Missense_Mutation	SNP	ENST00000308059.6	hg19	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	G	13.20	2.166638	0.38217	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.05258	3.49;3.47;3.71	3.52	3.52	0.40303	.	0.905722	0.09716	N	0.765070	T	0.07908	0.0198	M	0.62723	1.935	0.09310	N	1	B;P;B	0.40050	0.247;0.7;0.247	B;B;B	0.35278	0.199;0.19;0.199	T	0.19943	-1.0290	10	0.16896	T	0.51	-8.804	10.8549	0.46794	0.0:0.0:1.0:0.0	.	265;265;265	F8W6T4;Q9Y238-3;Q9Y238	.;.;DLEC1_HUMAN	N	265	ENSP00000308597:D265N;ENSP00000315914:D265N;ENSP00000410427:D265N	ENSP00000308597:D265N	D	+	1	0	DLEC1	38078783	0.760000	0.28428	0.021000	0.16686	0.059000	0.15707	3.718000	0.54919	2.278000	0.76064	0.655000	0.94253	GAT		0.458	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337		A	38103779	G	A	38103779	3	1	823	1	0	0	0	0	1	0	0	0	4554	942	33	2	807	2	DLEC1	3	38103779	Missense_Mutation	SNP	G	TCGA-Y8-A8S0-01A-11D-A36X-10		38103779	159918651	8	49503											
CPNE4	131034	hgsc.bcm.edu	37	3	131268825	131268825	+	Nonsense_Mutation	SNP	G	G	T			TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chr3:131268825G>T	ENST00000512055.1	-	18	3394	c.1268C>A	c.(1267-1269)tCa>tAa	p.S423*	CPNE4_ENST00000502818.1_Nonsense_Mutation_p.S441*|CPNE4_ENST00000511604.1_Nonsense_Mutation_p.S423*|CPNE4_ENST00000512332.1_Nonsense_Mutation_p.S441*|CPNE4_ENST00000429747.1_Nonsense_Mutation_p.S423*			Q96A23	CPNE4_HUMAN	copine IV	423	VWFA.					extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						CTCTGACGCTGACTTGGCAAC	0.522																																																0													156	135	142					3																	131268825		2203	4300	6503	SO:0001587	stop_gained	131034			H29499	CCDS3072.1, CCDS75010.1	3q22.1	2014-09-04			ENSG00000196353	ENSG00000196353			2317	protein-coding gene	gene with protein product	"copine 8"	604208				9430674, 12670487	Standard	XM_005247107		Approved	COPN4, CPN4	uc003eok.3	Q96A23	OTTHUMG00000159631	ENST00000512055.1:c.1268C>A	chr3.hg19:g.131268825G>T	ENSP00000421705:p.Ser423*		D3DNC5|Q8TEX1	Nonsense_Mutation	SNP	ENST00000512055.1	hg19	CCDS3072.1	.	.	.	.	.	.	.	.	.	.	G	39	7.419351	0.98272	.	.	ENSG00000196353	ENST00000512055;ENST00000429747;ENST00000512332;ENST00000511604;ENST00000502818	.	.	.	5.22	5.22	0.72569	.	0.112824	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-9.0488	18.7675	0.91879	0.0:0.0:1.0:0.0	.	.	.	.	X	423;423;441;423;441	.	ENSP00000411904:S423X	S	-	2	0	CPNE4	132751515	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	5.392000	0.66272	2.436000	0.82500	0.462000	0.41574	TCA		0.522	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356583.4	NM_130808		T	131268825	G	T	131268825	4	4	823	1	0	0	0	0	0	1	0	0	3816	1294	45	4	417	4	CPNE4	3	131268825	Nonsense_Mutation	SNP	G	TCGA-Y8-A8S0-01A-11D-A36X-10	93165046	131268825	66753605	9	49504											
RBP1	5947	hgsc.bcm.edu	37	3	139236515	139236515	+	Missense_Mutation	SNP	C	C	G			TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chr3:139236515C>G	ENST00000232219.2	-	4	658	c.548G>C	c.(547-549)aGa>aCa	p.R183T	RP11-319G6.1_ENST00000515247.1_RNA	NM_002899.3	NP_002890.2	P09455	RET1_HUMAN	retinol binding protein 1, cellular	121					phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|vitamin A metabolic process (GO:0006776)	cytosol (GO:0005829)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|transporter activity (GO:0005215)			endometrium(1)|large_intestine(2)|lung(1)|prostate(1)	5					Acitretin(DB00459)|Vitamin A(DB00162)	ACCTTCCACTCTCATCTCCTG	0.483																																																0													204	165	178					3																	139236515		2203	4300	6503	SO:0001583	missense	5947				CCDS3110.2, CCDS46925.1, CCDS46926.1	3q21-q23	2013-03-01	2001-11-28		ENSG00000114115	ENSG00000114115		"Fatty acid binding protein family"	9919	protein-coding gene	gene with protein product		180260	"retinol-binding protein 1, cellular"			1654334, 9858824	Standard	NM_002899		Approved	CRABP-I, CRBP1, CRBP, RBPC, CRBPI	uc003eti.2	P09455	OTTHUMG00000155751	ENST00000232219.2:c.548G>C	chr3.hg19:g.139236515C>G	ENSP00000232219:p.Arg183Thr		A8K2Q0|B7Z7A0|E7EWV0|F2Z2F2|Q6FGX8	Missense_Mutation	SNP	ENST00000232219.2	hg19	CCDS3110.2	.	.	.	.	.	.	.	.	.	.	C	8.862	0.947160	0.18356	.	.	ENSG00000114115	ENST00000232219	T	0.06218	3.33	5.77	5.77	0.91146	Calycin-like (1);Cytosolic fatty-acid binding (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.000000	0.85682	D	0.000000	T	0.02888	0.0086	N	0.01417	-0.88	0.80722	D	1	B	0.06786	0.001	B	0.12837	0.008	T	0.55379	-0.8150	10	0.14656	T	0.56	.	17.4774	0.87662	0.0:1.0:0.0:0.0	.	121	P09455	RET1_HUMAN	T	183	ENSP00000232219:R183T	ENSP00000232219:R183T	R	-	2	0	RBP1	140719205	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.257000	0.72480	2.726000	0.93360	0.655000	0.94253	AGA		0.483	RBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341495.1	NM_002899		G	139236515	C	G	139236515	3	3	823	1	0	0	0	0	1	0	0	0	13161	913	32	4	49	4	RBP1	3	139236515	Missense_Mutation	SNP	C	TCGA-Y8-A8S0-01A-11D-A36X-10	7967690	139236515	58785915	10	49505											
BOD1L	259282	hgsc.bcm.edu	37	4	13602062	13602062	+	Silent	SNP	C	C	T			TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chr4:13602062C>T	ENST00000040738.5	-	10	6597	c.6462G>A	c.(6460-6462)ttG>ttA	p.L2154L		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2154						nucleus (GO:0005634)	DNA binding (GO:0003677)										TGGAGATAGGCAATTCGAATT	0.498																																																0													89	77	81					4																	13602062		2203	4300	6503	SO:0001819	synonymous_variant	259282			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.6462G>A	chr4.hg19:g.13602062C>T			Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Silent	SNP	ENST00000040738.5	hg19	CCDS3411.2																																																																																				0.498	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		T	13602062	C	T	13602062	2	4	823	1	0	0	0	0	0	0	0	1	1483	709	25	2		2	BOD1L	4	13602062	Silent	SNP	C	TCGA-Y8-A8S0-01A-11D-A36X-10		13602062	177552214	11	49506											
WDR19	57728	hgsc.bcm.edu	37	4	39233429	39233429	+	Silent	SNP	T	T	G			TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chr4:39233429T>G	ENST00000399820.3	+	18	2149	c.1995T>G	c.(1993-1995)gcT>gcG	p.A665A	WDR19_ENST00000288634.7_Silent_p.A505A|WDR19_ENST00000515631.1_3'UTR	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	665					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium assembly (GO:0042384)|digestive system development (GO:0055123)|ear morphogenesis (GO:0042471)|embryonic camera-type eye development (GO:0031076)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|intraciliary retrograde transport (GO:0035721)|myotome development (GO:0061055)|neurological system process (GO:0050877)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|photoreceptor connecting cilium (GO:0032391)				large_intestine(1)	1						TTTCTGATGCTTGGGAAATGT	0.433																																																0													107	101	103					4																	39233429		1949	4150	6099	SO:0001819	synonymous_variant	57728			AB046858, AY029257	CCDS47042.1	4p14	2014-02-21			ENSG00000157796	ENSG00000157796		"WD repeat domain containing", "Intraflagellar transport homologs"	18340	protein-coding gene	gene with protein product	"intraflagellar transport 144 homolog (Chlamydomonas)"	608151				12906858, 22019273	Standard	XM_005262658		Approved	Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13	uc003gtv.3	Q8NEZ3	OTTHUMG00000160466	ENST00000399820.3:c.1995T>G	chr4.hg19:g.39233429T>G			B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	Silent	SNP	ENST00000399820.3	hg19	CCDS47042.1																																																																																				0.433	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360689.1			G	39233429	T	G	39233429	2	3	823	1	0	0	0	0	0	0	0	1	17284	1596	56	5		5	WDR19	4	39233429	Silent	SNP	T	TCGA-Y8-A8S0-01A-11D-A36X-10	25631367	39233429	151920847	12	49507											
METTL14	57721	hgsc.bcm.edu	37	4	119613212	119613212	+	Missense_Mutation	SNP	T	T	C			TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chr4:119613212T>C	ENST00000388822.5	+	5	568	c.401T>C	c.(400-402)aTc>aCc	p.I134T	METTL14_ENST00000506780.1_Missense_Mutation_p.I96T			Q9HCE5	MET14_HUMAN	methyltransferase like 14	134					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						CAGAATTTCATCAGGGATGTA	0.333																																																0													169	158	161					4																	119613212		2203	4300	6503	SO:0001583	missense	57721			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.401T>C	chr4.hg19:g.119613212T>C	ENSP00000373474:p.Ile134Thr		A6NIG1|Q969V2	Missense_Mutation	SNP	ENST00000388822.5	hg19	CCDS34053.1	.	.	.	.	.	.	.	.	.	.	t	23.9	4.472103	0.84533	.	.	ENSG00000145388	ENST00000388822;ENST00000506780	.	.	.	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.80071	0.4556	M	0.78344	2.41	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.82149	-0.0600	9	0.66056	D	0.02	1.2634	16.4054	0.83662	0.0:0.0:0.0:1.0	.	96;134	D6RBL4;Q9HCE5	.;MTL14_HUMAN	T	134;96	.	ENSP00000373474:I134T	I	+	2	0	METTL14	119832660	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.426000	0.80270	2.282000	0.76494	0.528000	0.53228	ATC		0.333	METTL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364034.3	NM_020961		C	119613212	T	C	119613212	3	2	823	1	0	0	0	0	1	0	0	0	9500	1435	50	3	419	3	METTL14	4	119613212	Missense_Mutation	SNP	T	TCGA-Y8-A8S0-01A-11D-A36X-10	80379783	119613212	71541064	13	49508											
ERBB2IP	55914	hgsc.bcm.edu	37	5	65350314	65350314	+	Missense_Mutation	SNP	G	G	A			TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chr5:65350314G>A	ENST00000284037.5	+	21	3557	c.3168G>A	c.(3166-3168)atG>atA	p.M1056I	ERBB2IP_ENST00000508515.1_Missense_Mutation_p.M1056I|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.M1056I|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.M1056I|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.M1052I|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.M1056I|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.M1056I|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.M1056I|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.M1056I	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	1056					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)		ATGGGGAAATGTGGGCCATCT	0.438																																																0													132	128	129					5																	65350314		2203	4300	6503	SO:0001583	missense	55914				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.3168G>A	chr5.hg19:g.65350314G>A	ENSP00000284037:p.Met1056Ile		A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Missense_Mutation	SNP	ENST00000284037.5	hg19	CCDS58953.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.919750	0.33908	.	.	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000380939;ENST00000380936;ENST00000380935;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000508515	T;T;T;T;T;T;T;T;T	0.38401	1.33;1.33;1.34;1.53;1.14;1.41;1.33;1.37;1.14	5.67	5.67	0.87782	.	0.190134	0.64402	D	0.000016	T	0.30386	0.0763	N	0.17474	0.49	0.58432	D	0.999992	B;P;B;B;B;P;B	0.47762	0.068;0.839;0.023;0.014;0.031;0.9;0.024	B;B;B;B;B;P;B	0.44990	0.045;0.276;0.027;0.006;0.016;0.466;0.013	T	0.02512	-1.1148	10	0.21014	T	0.42	.	19.7424	0.96237	0.0:0.0:1.0:0.0	.	1056;1056;1056;1052;1056;1056;1056	Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-7;Q96RT1-2	.;.;.;.;LAP2_HUMAN;.;.	I	1056;1056;1056;1056;1056;1056;1052;1056;1056	ENSP00000284037:M1056I;ENSP00000370330:M1056I;ENSP00000370326:M1056I;ENSP00000370323:M1056I;ENSP00000370322:M1056I;ENSP00000370325:M1056I;ENSP00000422766:M1052I;ENSP00000426632:M1056I;ENSP00000422015:M1056I	ENSP00000284037:M1056I	M	+	3	0	ERBB2IP	65386070	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.792000	0.91856	2.670000	0.90874	0.655000	0.94253	ATG		0.438	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	NM_018695		A	65350314	G	A	65350314	3	1	823	1	0	0	0	0	1	0	0	0	5209	1377	48	2	3242	2	ERBB2IP	5	65350314	Missense_Mutation	SNP	G	TCGA-Y8-A8S0-01A-11D-A36X-10		65350314	115564946	14	49509											
DDX46	9879	hgsc.bcm.edu	37	5	134109546	134109546	+	Missense_Mutation	SNP	A	A	G			TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chr5:134109546A>G	ENST00000354283.4	+	5	743	c.608A>G	c.(607-609)gAt>gGt	p.D203G	DDX46_ENST00000452510.2_Missense_Mutation_p.D203G			Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	203	Poly-Asp.				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)			TTAGAGGACGATGATGGTATA	0.328																																					Colon(13;391 453 4901 21675 24897)											0													126	126	126					5																	134109546		2203	4300	6503	SO:0001583	missense	9879				CCDS34240.1, CCDS75306.1	5q31.1	2010-01-25			ENSG00000145833	ENSG00000145833		"DEAD-boxes"	18681	protein-coding gene	gene with protein product							Standard	XM_005272142		Approved	KIAA0801, FLJ25329, PRPF5, Prp5	uc003kzw.3	Q7L014	OTTHUMG00000163072	ENST00000354283.4:c.608A>G	chr5.hg19:g.134109546A>G	ENSP00000346236:p.Asp203Gly		O94894|Q96EI0|Q9Y658	Missense_Mutation	SNP	ENST00000354283.4	hg19	CCDS34240.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.514770	0.85389	.	.	ENSG00000145833	ENST00000452510;ENST00000537371;ENST00000354283	T;T	0.27890	1.64;1.64	4.84	4.84	0.62591	.	0.047448	0.85682	D	0.000000	T	0.53883	0.1824	M	0.74647	2.275	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	T	0.56547	-0.7961	10	0.48119	T	0.1	-22.7899	14.3642	0.66795	1.0:0.0:0.0:0.0	.	203	Q7L014	DDX46_HUMAN	G	203	ENSP00000416534:D203G;ENSP00000346236:D203G	ENSP00000346236:D203G	D	+	2	0	DDX46	134137445	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.758000	0.91663	1.934000	0.56057	0.528000	0.53228	GAT		0.328	DDX46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371584.1	NM_014829		G	134109546	A	G	134109546	3	3	823	1	0	0	0	0	1	0	0	0	4366	333	12	3	626	3	DDX46	5	134109546	Missense_Mutation	SNP	A	TCGA-Y8-A8S0-01A-11D-A36X-10	68759232	134109546	46805714	15	49510											
C6orf27	80737	hgsc.bcm.edu	37	6	31740832	31740832	+	Missense_Mutation	SNP	T	T	G			TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chr6:31740832T>G	ENST00000375688.4	-	7	1186	c.986A>C	c.(985-987)gAg>gCg	p.E329A	VWA7_ENST00000375686.3_Missense_Mutation_p.E329A|VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000447450.1_Missense_Mutation_p.E329A			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7	329	VWFA.					extracellular region (GO:0005576)											AGCGTTGATCTCCTCACCCAT	0.612																																																0													48	36	40					6																	31740832		1511	2709	4220	SO:0001583	missense	80737				CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396			13939	protein-coding gene	gene with protein product		609693	"chromosome 6 open reading frame 27"	C6orf27			Standard	NM_025258		Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132	ENST00000375688.4:c.986A>C	chr6.hg19:g.31740832T>G	ENSP00000364840:p.Glu329Ala		A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	Missense_Mutation	SNP	ENST00000375688.4	hg19	CCDS4721.2	.	.	.	.	.	.	.	.	.	.	T	23.1	4.379006	0.82682	.	.	ENSG00000204396	ENST00000375688;ENST00000375686;ENST00000447450	D;D;D	0.97731	-4.51;-4.51;-4.51	5.74	5.74	0.90152	von Willebrand factor, type A (1);	0.052325	0.64402	D	0.000001	D	0.97247	0.9100	M	0.78049	2.395	0.47374	D	0.999402	D	0.55385	0.971	P	0.50825	0.651	D	0.97034	0.9752	10	0.51188	T	0.08	-14.2839	13.9835	0.64319	0.0:0.0:0.0:1.0	.	329	Q9Y334	G7C_HUMAN	A	329	ENSP00000364840:E329A;ENSP00000364838:E329A;ENSP00000390554:E329A	ENSP00000364838:E329A	E	-	2	0	C6orf27	31848811	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	6.834000	0.75339	2.186000	0.69663	0.455000	0.32223	GAG		0.612	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076233.2	NM_025258		G	31740832	T	G	31740832	3	3	823	1	0	0	0	0	1	0	0	0	2364	1551	54	5	1732	5	C6orf27	6	31740832	Missense_Mutation	SNP	T	TCGA-Y8-A8S0-01A-11D-A36X-10		31740832	139374235	16	49511											
HBS1L	10767	hgsc.bcm.edu	37	6	135360838	135360838	+	Silent	SNP	T	T	C			TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chr6:135360838T>C	ENST00000367837.5	-	4	509	c.303A>G	c.(301-303)ttA>ttG	p.L101L	HBS1L_ENST00000367826.2_Silent_p.L59L|HBS1L_ENST00000415177.2_Intron|HBS1L_ENST00000367822.5_Silent_p.L101L|HBS1L_ENST00000314674.3_Silent_p.L101L|HBS1L_ENST00000445176.2_Intron|HBS1L_ENST00000525067.1_Silent_p.L37L|HBS1L_ENST00000367820.2_Silent_p.L101L|HBS1L_ENST00000367824.4_Intron	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like translational GTPase	101					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)		CTGCTTCAATTAATATTTCAT	0.413																																																0													160	149	153					6																	135360838		2203	4300	6503	SO:0001819	synonymous_variant	10767			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.303A>G	chr6.hg19:g.135360838T>C			B7Z365|Q4VX89|Q4VX90|Q5T7G3|Q8NDW9|Q9UPW3	Silent	SNP	ENST00000367837.5	hg19	CCDS5173.1																																																																																				0.413	HBS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042339.2			C	135360838	T	C	135360838	2	2	823	1	0	0	0	0	0	0	0	1	6989	1751	61	3		3	HBS1L	6	135360838	Silent	SNP	T	TCGA-Y8-A8S0-01A-11D-A36X-10	103620006	135360838	35754229	17	49512											
KCNU1	157855	hgsc.bcm.edu	37	8	36694438	36694438	+	Missense_Mutation	SNP	C	C	A			TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chr8:36694438C>A	ENST00000399881.3	+	14	1530	c.1493C>A	c.(1492-1494)tCt>tAt	p.S498Y		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	498	Segment S7.				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)		TTCCTAACATCTCTATTTGTG	0.393																																																0													193	190	191					8																	36694438		1864	4102	5966	SO:0001583	missense	157855			BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.1493C>A	chr8.hg19:g.36694438C>A	ENSP00000382770:p.Ser498Tyr			Missense_Mutation	SNP	ENST00000399881.3	hg19	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	C	19.14	3.769759	0.69992	.	.	ENSG00000215262	ENST00000399881	T	0.44083	0.93	5.34	5.34	0.76211	Potassium channel, calcium-activated, BK, alpha subunit (2);	0.848376	0.09485	U	0.795761	T	0.59797	0.2220	L	0.51422	1.61	0.80722	D	1	D	0.76494	0.999	D	0.69479	0.964	T	0.52646	-0.8548	10	0.87932	D	0	-4.9467	13.1151	0.59295	0.0:0.7923:0.2077:0.0	.	498	A8MYU2	KCNU1_HUMAN	Y	498	ENSP00000382770:S498Y	ENSP00000382770:S498Y	S	+	2	0	KCNU1	36813596	0.975000	0.34042	0.930000	0.37139	0.985000	0.73830	1.363000	0.34159	2.657000	0.90304	0.585000	0.79938	TCT		0.393	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		A	36694438	C	A	36694438	3	1	823	1	0	0	0	0	1	0	0	0	8095	913	32	4	1547	4	KCNU1	8	36694438	Missense_Mutation	SNP	C	TCGA-Y8-A8S0-01A-11D-A36X-10		36694438	109669584	18	49513											
HGSNAT	138050	hgsc.bcm.edu	37	8	43048924	43048924	+	Missense_Mutation	SNP	T	T	C			TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chr8:43048924T>C	ENST00000458501.2	+	14	1486	c.1486T>C	c.(1486-1488)Tat>Cat	p.Y496H	HGSNAT_ENST00000521576.1_Missense_Mutation_p.Y185H|HGSNAT_ENST00000297798.7_Missense_Mutation_p.Y200H|HGSNAT_ENST00000379644.4_Missense_Mutation_p.Y468H			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	496					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lysosomal transport (GO:0007041)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	heparan-alpha-glucosaminide N-acetyltransferase activity (GO:0015019)|transferase activity, transferring acyl groups (GO:0016746)			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			CGAGGTGGCCTATGACCCCGA	0.453																																																0													144	145	144					8																	43048924		1943	4144	6087	SO:0001583	missense	138050				CCDS47852.1	8p11.1	2011-11-16	2006-09-05	2006-08-16	ENSG00000165102	ENSG00000165102	2.3.1.78		26527	protein-coding gene	gene with protein product		610453	"transmembrane protein 76"	TMEM76		17033958, 16960811	Standard	NM_152419		Approved	FLJ32731, HGNAT	uc003xpx.4	Q68CP4	OTTHUMG00000164102	ENST00000458501.2:c.1486T>C	chr8.hg19:g.43048924T>C	ENSP00000389524:p.Tyr496His		B4E2V0	Missense_Mutation	SNP	ENST00000458501.2	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.24|14.24	2.476133|2.476133	0.44044|0.44044	.|.	.|.	ENSG00000165102|ENSG00000165102	ENST00000524016|ENST00000458501;ENST00000379644;ENST00000521576;ENST00000297798	.|D;D;D;D	.|0.94758	.|-3.51;-3.51;-3.51;-3.51	5.12|5.12	5.12|5.12	0.69794|0.69794	.|.	.|0.069987	.|0.64402	.|D	.|0.000015	D|D	0.91300|0.91300	0.7257|0.7257	L|L	0.46885|0.46885	1.475|1.475	0.43242|0.43242	D|D	0.995157|0.995157	.|B	.|0.34015	.|0.435	.|B	.|0.32149	.|0.141	D|D	0.90493|0.90493	0.4468|0.4468	5|10	.|0.46703	.|T	.|0.11	-14.9366|-14.9366	12.9101|12.9101	0.58175|0.58175	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|496	.|Q68CP4	.|HGNAT_HUMAN	P|H	169|496;468;185;200	.|ENSP00000389524:Y496H;ENSP00000368965:Y468H;ENSP00000429029:Y185H;ENSP00000297798:Y200H	.|ENSP00000297798:Y200H	L|Y	+|+	2|1	0|0	HGSNAT|HGSNAT	43168081|43168081	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.466000|0.466000	0.32739|0.32739	7.539000|7.539000	0.82063|0.82063	1.937000|1.937000	0.56155|0.56155	0.529000|0.529000	0.55759|0.55759	CTA|TAT		0.453	HGSNAT-202	KNOWN	basic	protein_coding	protein_coding		XM_372038		C	43048924	T	C	43048924	3	2	823	1	0	0	0	0	1	0	0	0	7090	1522	53	3	1456	3	HGSNAT	8	43048924	Missense_Mutation	SNP	T	TCGA-Y8-A8S0-01A-11D-A36X-10	6354486	43048924	103315098	19	49514											
PI15	51050	hgsc.bcm.edu	37	8	75761353	75761354	+	Splice_Site	DNP	GG	GG	TA			TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chr8:75761353_75761354GG>TA	ENST00000260113.2	+	6	821_822	c.642_643GG>TA	c.(640-645)aaGGgc>aaTAgc	p.214_215KG>NS	RP11-758M4.4_ENST00000523860.1_RNA|PI15_ENST00000523773.1_Splice_Site_p.214_215KG>NS|RP11-758M4.4_ENST00000522914.1_RNA|RP11-758M4.4_ENST00000518128.1_RNA	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	214						extracellular vesicular exosome (GO:0070062)	peptidase inhibitor activity (GO:0030414)			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)			TCCCTTCTAGGGGCAATTGGAT	0.401																																																0																																										SO:0001630	splice_region_variant	51050			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	Exception_encountered	chr8.hg19:g.75761353_75761354delinsTA			Q68CY1	Missense_Mutation	SNP	ENST00000260113.2	hg19	CCDS6218.1																																																																																				0.401	PI15-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379115.1	NM_015886	Missense_Mutation	TA	75761354	GG	TA	75761353	5	4	823	1	0	0	0	0	0	0	1	0	11870	1246	43	4	660	4	PI15	8	75761353	Splice_Site	DNP	GG	TCGA-Y8-A8S0-01A-11D-A36X-10	32712429	75761353	70602669	20	49515											
RBM17	84991	hgsc.bcm.edu	37	10	6155504	6155504	+	Missense_Mutation	SNP	C	C	G			TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chr10:6155504C>G	ENST00000446108.1	+	9	1534	c.890C>G	c.(889-891)aCt>aGt	p.T297S	RBM17_ENST00000476706.1_3'UTR|RBM17_ENST00000379888.4_Missense_Mutation_p.T297S	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	297					alternative mRNA splicing, via spliceosome (GO:0000380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						AATCCGCTGACTGAAATACTT	0.418																																																0													132	136	134					10																	6155504		2203	4300	6503	SO:0001583	missense	84991			AF083384	CCDS7077.1	10p15.1	2013-01-28			ENSG00000134453	ENSG00000134453		"RNA binding motif (RRM) containing", "G patch domain containing"	16944	protein-coding gene	gene with protein product	"splicing factor 45kDa"	606935				9731529	Standard	NM_032905		Approved	SPF45, MGC14439	uc001ijb.3	Q96I25	OTTHUMG00000017618	ENST00000446108.1:c.890C>G	chr10.hg19:g.6155504C>G	ENSP00000388638:p.Thr297Ser		Q96GY6	Missense_Mutation	SNP	ENST00000446108.1	hg19	CCDS7077.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.827856	0.90955	.	.	ENSG00000134453	ENST00000379888;ENST00000446108	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.75466	0.3853	L	0.60455	1.87	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	T	0.69011	-0.5258	9	0.20046	T	0.44	-15.9215	19.5911	0.95511	0.0:1.0:0.0:0.0	.	297	Q96I25	SPF45_HUMAN	S	297	.	ENSP00000369218:T297S	T	+	2	0	RBM17	6195510	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	7.262000	0.78410	2.633000	0.89246	0.561000	0.74099	ACT		0.418	RBM17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046635.1	NM_032905		G	6155504	C	G	6155504	3	3	823	1	0	0	0	0	1	0	0	0	13125	565	20	4	920	4	RBM17	10	6155504	Missense_Mutation	SNP	C	TCGA-Y8-A8S0-01A-11D-A36X-10		6155504	129379243	21	49516											
WAC	51322	hgsc.bcm.edu	37	10	28824568	28824568	+	Silent	SNP	T	T	A			TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chr10:28824568T>A	ENST00000354911.4	+	3	317	c.156T>A	c.(154-156)ccT>ccA	p.P52P	WAC_ENST00000428935.1_Silent_p.P7P|WAC_ENST00000375646.1_Silent_p.P7P|WAC_ENST00000347934.4_Silent_p.P52P|WAC_ENST00000532233.1_3'UTR|WAC_ENST00000375664.4_Silent_p.P7P|WAC-AS1_ENST00000527986.1_RNA	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	52					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						CCGGAGATCCTTCACCACCAA	0.458																																																0													106	103	104					10																	28824568		2203	4300	6503	SO:0001819	synonymous_variant	51322			AK055852	CCDS7159.1, CCDS7160.1, CCDS7161.1	10p12.1	2007-05-17	2003-03-19		ENSG00000095787	ENSG00000095787			17327	protein-coding gene	gene with protein product		615049	"WW domain-containing adaptor with coiled coil"			11827461	Standard	NR_024557		Approved	Wwp4, FLJ31290, PRO1741, BM-016, MGC10753	uc001iuf.3	Q9BTA9	OTTHUMG00000017872	ENST00000354911.4:c.156T>A	chr10.hg19:g.28824568T>A			A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	Silent	SNP	ENST00000354911.4	hg19	CCDS7159.1																																																																																				0.458	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000047371.1	NM_100264		A	28824568	T	A	28824568	2	1	823	1	0	0	0	0	0	0	0	1	17252	1596	56	5		5	WAC	10	28824568	Silent	SNP	T	TCGA-Y8-A8S0-01A-11D-A36X-10	22669064	28824568	106710179	22	49517											
SLC16A12	387700	hgsc.bcm.edu	37	10	91196029	91196029	+	Missense_Mutation	SNP	A	A	G			TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chr10:91196029A>G	ENST00000341233.4	-	7	1376	c.986T>C	c.(985-987)aTg>aCg	p.M329T	SLC16A12_ENST00000371790.4_Missense_Mutation_p.M359T	NM_213606.3	NP_998771.3	Q6ZSM3	MOT12_HUMAN	solute carrier family 16, member 12	329						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						GAGCCCATCCATTCCCACGGC	0.453																																																0													126	112	117					10																	91196029		2203	4300	6503	SO:0001583	missense	387700				CCDS7404.1, CCDS7404.2	10q23.32	2013-07-18	2013-07-18		ENSG00000152779	ENSG00000152779		"Solute carriers"	23094	protein-coding gene	gene with protein product	"monocarboxylic acid transporter 12"	611910	"solute carrier family 16 (monocarboxylic acid transporters), member 12", "solute carrier family 16, member 12 (monocarboxylic acid transporter 12)"				Standard	NM_213606		Approved	MCT12	uc001kgm.3	Q6ZSM3	OTTHUMG00000018714	ENST00000341233.4:c.986T>C	chr10.hg19:g.91196029A>G	ENSP00000343022:p.Met329Thr		Q5M9M9|Q5T7J2|Q6ZV76	Missense_Mutation	SNP	ENST00000341233.4	hg19		.	.	.	.	.	.	.	.	.	.	A	14.59	2.580520	0.46006	.	.	ENSG00000152779	ENST00000341233;ENST00000371790	T;T	0.80738	-1.41;-1.41	5.81	5.81	0.92471	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.170064	0.49916	D	0.000132	T	0.77798	0.4184	L	0.47716	1.5	0.33209	D	0.553221	B	0.17852	0.024	B	0.29353	0.101	T	0.78954	-0.2000	10	0.35671	T	0.21	.	15.3584	0.74448	1.0:0.0:0.0:0.0	.	329	Q6ZSM3	MOT12_HUMAN	T	329;359	ENSP00000343022:M329T;ENSP00000360855:M359T	ENSP00000343022:M329T	M	-	2	0	SLC16A12	91186009	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	9.339000	0.96797	2.217000	0.71921	0.482000	0.46254	ATG		0.453	SLC16A12-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_213606		G	91196029	A	G	91196029	3	3	823	1	0	0	0	0	1	0	0	0	14411	217	8	3	482	3	SLC16A12	10	91196029	Missense_Mutation	SNP	A	TCGA-Y8-A8S0-01A-11D-A36X-10	62371461	91196029	44338718	23	49518											
C10orf119	79892	hgsc.bcm.edu	37	10	121602090	121602090	+	Missense_Mutation	SNP	A	A	T			TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chr10:121602090A>T	ENST00000360003.3	-	10	1193	c.1024T>A	c.(1024-1026)Tcc>Acc	p.S342T	MCMBP_ENST00000369077.3_Missense_Mutation_p.S340T|MCMBP_ENST00000466047.1_5'UTR	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein	342					DNA-dependent DNA replication (GO:0006261)|mitotic nuclear division (GO:0007067)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						GACAATTCGGACATGAAACTT	0.438																																																0													110	100	103					10																	121602090		2203	4300	6503	SO:0001583	missense	79892			BC007219	CCDS7617.1, CCDS58099.1	10q26.13	2013-10-11	2011-01-05	2011-01-05	ENSG00000197771	ENSG00000197771			25782	protein-coding gene	gene with protein product		610909	"chromosome 10 open reading frame 119"	C10orf119		17296731	Standard	NM_024834		Approved	FLJ13081, MCM-BP	uc001ler.3	Q9BTE3	OTTHUMG00000019159	ENST00000360003.3:c.1024T>A	chr10.hg19:g.121602090A>T	ENSP00000353098:p.Ser342Thr		B3KSP7|Q6IA56|Q9BVT9|Q9H916	Missense_Mutation	SNP	ENST00000360003.3	hg19	CCDS7617.1	.	.	.	.	.	.	.	.	.	.	A	14.90	2.674108	0.47781	.	.	ENSG00000197771	ENST00000360003;ENST00000369077	T;T	0.30981	1.51;1.51	5.83	4.67	0.58626	.	0.235203	0.45361	D	0.000375	T	0.20495	0.0493	L	0.38175	1.15	0.46774	D	0.999192	P	0.34462	0.454	B	0.24394	0.053	T	0.03051	-1.1078	10	0.15952	T	0.53	-19.2833	12.9785	0.58549	0.8649:0.1351:0.0:0.0	.	342	Q9BTE3	MCMBP_HUMAN	T	342;340	ENSP00000353098:S342T;ENSP00000358073:S340T	ENSP00000353098:S342T	S	-	1	0	MCMBP	121592080	1.000000	0.71417	0.999000	0.59377	0.953000	0.61014	2.129000	0.42055	0.998000	0.38996	0.482000	0.46254	TCC		0.438	MCMBP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050684.1	NM_024834		T	121602090	A	T	121602090	3	4	823	1	0	0	0	0	1	0	0	0	1590	275	10	5	932	5	C10orf119	10	121602090	Missense_Mutation	SNP	A	TCGA-Y8-A8S0-01A-11D-A36X-10	30406061	121602090	13932657	24	49519											
BTBD16	118663	hgsc.bcm.edu	37	10	124066782	124066782	+	Silent	SNP	G	G	A			TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chr10:124066782G>A	ENST00000260723.4	+	10	1121	c.870G>A	c.(868-870)caG>caA	p.Q290Q	BTBD16_ENST00000368994.2_Silent_p.Q291Q	NM_144587.2	NP_653188.2	Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	290										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)				ACAAGATTCAGGCAATTCCGA	0.333																																																0													123	124	123					10																	124066782		2202	4300	6502	SO:0001819	synonymous_variant	118663			AK058088	CCDS31301.1	10q26.13	2013-01-24	2006-07-04	2006-07-04	ENSG00000138152	ENSG00000138152		"BTB/POZ domain containing"	26340	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 87"	C10orf87			Standard	NM_144587		Approved	FLJ25359, Em:AC061711.1	uc001lgc.1	Q32M84	OTTHUMG00000019182	ENST00000260723.4:c.870G>A	chr10.hg19:g.124066782G>A			A6NM63|Q4VXL1|Q96LN0	Silent	SNP	ENST00000260723.4	hg19	CCDS31301.1																																																																																				0.333	BTBD16-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050780.3	NM_144587		A	124066782	G	A	124066782	2	1	823	1	0	0	0	0	0	0	0	1	1543	991	35	2		2	BTBD16	10	124066782	Silent	SNP	G	TCGA-Y8-A8S0-01A-11D-A36X-10	2464692	124066782	11467965	25	49520											
CD6	923	hgsc.bcm.edu	37	11	60774086	60774086	+	Missense_Mutation	SNP	C	C	G			TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chr11:60774086C>G	ENST00000313421.7	+	2	276	c.90C>G	c.(88-90)agC>agG	p.S30R	CD6_ENST00000545105.1_3'UTR|CD6_ENST00000346437.4_Missense_Mutation_p.S30R|CD6_ENST00000344028.5_Missense_Mutation_p.S30R|CD6_ENST00000352009.5_Missense_Mutation_p.S30R|CD6_ENST00000452451.2_Missense_Mutation_p.S30R	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	30					cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	scavenger receptor activity (GO:0005044)			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						TCAACACCAGCAGTGCAGAGA	0.567																																					Pancreas(169;904 2017 4767 38890 42505)											0													83	75	78					11																	60774086		2203	4299	6502	SO:0001583	missense	923				CCDS7999.1, CCDS58137.1, CCDS58138.1	11q12.2	2006-03-28	2006-03-28		ENSG00000013725	ENSG00000013725		"CD molecules"	1691	protein-coding gene	gene with protein product		186720	"CD6 antigen"			9013954	Standard	NM_006725		Approved	Tp120	uc001nqq.3	P30203	OTTHUMG00000167823	ENST00000313421.7:c.90C>G	chr11.hg19:g.60774086C>G	ENSP00000323280:p.Ser30Arg		A4KAD4|A4KAD5|Q9UMF2|Q9Y4K7|Q9Y4K8|Q9Y4K9|Q9Y4L0	Missense_Mutation	SNP	ENST00000313421.7	hg19	CCDS7999.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.305211	0.40795	.	.	ENSG00000013725	ENST00000344028;ENST00000346437;ENST00000313421;ENST00000542157;ENST00000433107;ENST00000452451;ENST00000352009	T;T;T;T;T;T;T	0.01313	5.02;5.02;5.02;5.03;5.16;5.02;5.02	3.94	3.02	0.34903	.	2.954480	0.01768	N	0.030983	T	0.01976	0.0062	N	0.14661	0.345	0.09310	N	1	P;D;B;P;P	0.53151	0.92;0.958;0.053;0.93;0.93	P;P;B;B;B	0.46796	0.527;0.483;0.032;0.289;0.289	T	0.50980	-0.8763	10	0.37606	T	0.19	.	9.9286	0.41507	0.0:0.8994:0.0:0.1006	.	30;30;30;30;30	E7ER04;P30203-5;P30203-4;P30203;Q8N4Q7	.;.;.;CD6_HUMAN;.	R	30	ENSP00000344108:S30R;ENSP00000345566:S30R;ENSP00000323280:S30R;ENSP00000440055:S30R;ENSP00000410638:S30R;ENSP00000390676:S30R;ENSP00000340628:S30R	ENSP00000323280:S30R	S	+	3	2	CD6	60530662	0.002000	0.14202	0.018000	0.16275	0.026000	0.11368	0.259000	0.18405	1.239000	0.43787	0.561000	0.74099	AGC		0.567	CD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396449.1	NM_006725		G	60774086	C	G	60774086	3	3	823	1	0	0	0	0	1	0	0	0	3030	709	25	4	96	4	CD6	11	60774086	Missense_Mutation	SNP	C	TCGA-Y8-A8S0-01A-11D-A36X-10		60774086	74232430	26	49521											
DYNC2H1	79659	hgsc.bcm.edu	37	11	103080609	103080609	+	Missense_Mutation	SNP	C	C	T			TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chr11:103080609C>T	ENST00000375735.2	+	53	8603	c.8459C>T	c.(8458-8460)cCt>cTt	p.P2820L	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.P2820L	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2820	AAA 4. {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)		TTTTAGATACCTGAAATGTTA	0.254																																																0													46	43	44					11																	103080609		1405	3082	4487	SO:0001583	missense	79659			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.8459C>T	chr11.hg19:g.103080609C>T	ENSP00000364887:p.Pro2820Leu		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	hg19	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.249617	0.80024	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.29142	1.58;1.58	4.7	4.7	0.59300	Dynein heavy chain, P-loop containing D4 domain (1);	0.083808	0.48767	U	0.000170	T	0.46541	0.1398	M	0.84683	2.71	0.80722	D	1	P;P	0.46277	0.875;0.849	P;B	0.46026	0.501;0.368	T	0.58853	-0.7563	10	0.72032	D	0.01	.	15.7886	0.78332	0.0:1.0:0.0:0.0	.	2820;2820	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	L	2820	ENSP00000364887:P2820L;ENSP00000381167:P2820L	ENSP00000364887:P2820L	P	+	2	0	DYNC2H1	102585819	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.771000	0.62318	2.306000	0.77630	0.591000	0.81541	CCT		0.254	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		T	103080609	C	T	103080609	3	4	823	1	0	0	0	0	1	0	0	0	4848	681	24	2	8669	2	DYNC2H1	11	103080609	Missense_Mutation	SNP	C	TCGA-Y8-A8S0-01A-11D-A36X-10	42306523	103080609	31925907	27	49522											
COL4A1	1282	hgsc.bcm.edu	37	13	110857716	110857716	+	Missense_Mutation	SNP	C	C	T			TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chr13:110857716C>T	ENST00000375820.4	-	17	1062	c.941G>A	c.(940-942)gGc>gAc	p.G314D	COL4A1_ENST00000543140.1_Missense_Mutation_p.G314D	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	314	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GCCCTGGCGGCCTATGAGTCC	0.507																																																0													75	86	83					13																	110857716		2203	4300	6503	SO:0001583	missense	1282			J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"Collagens"	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.941G>A	chr13.hg19:g.110857716C>T	ENSP00000364979:p.Gly314Asp		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	ENST00000375820.4	hg19	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.111503	0.56398	.	.	ENSG00000187498	ENST00000375815;ENST00000375820;ENST00000397198;ENST00000543140	D;D	0.99353	-5.77;-5.77	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	D	0.99677	0.9879	H	0.98370	4.215	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.97315	0.9940	10	0.87932	D	0	.	15.6631	0.77203	0.0:1.0:0.0:0.0	.	314	P02462	CO4A1_HUMAN	D	303;314;314;314	ENSP00000364979:G314D;ENSP00000443348:G314D	ENSP00000364973:G303D	G	-	2	0	COL4A1	109655717	0.987000	0.35691	0.169000	0.22859	0.061000	0.15899	4.641000	0.61375	2.498000	0.84270	0.551000	0.68910	GGC		0.507	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			T	110857716	C	T	110857716	3	4	823	1	0	0	0	0	1	0	0	0	3691	739	26	2	4212	2	COL4A1	13	110857716	Missense_Mutation	SNP	C	TCGA-Y8-A8S0-01A-11D-A36X-10		110857716	4312162	28	49523											
FAM179B	23116	hgsc.bcm.edu	37	14	45542589	45542589	+	Missense_Mutation	SNP	A	A	T			TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chr14:45542589A>T	ENST00000361577.3	+	19	5202	c.4988A>T	c.(4987-4989)aAt>aTt	p.N1663I	FAM179B_ENST00000382233.2_3'UTR|FAM179B_ENST00000361462.2_Missense_Mutation_p.N1716I	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1663										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						AATATGACAAATAGTGGCTCT	0.408																																																0													119	123	122					14																	45542589		2203	4300	6503	SO:0001583	missense	23116			AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"KIAA0423"	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.4988A>T	chr14.hg19:g.45542589A>T	ENSP00000355045:p.Asn1663Ile		Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	hg19	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	A	12.84	2.058291	0.36277	.	.	ENSG00000198718	ENST00000361577;ENST00000361462;ENST00000556823	T;T;T	0.66460	-0.21;-0.21;2.48	5.42	5.42	0.78866	Armadillo-type fold (1);	0.165528	0.53938	D	0.000052	T	0.52354	0.1729	N	0.22421	0.69	0.80722	D	1	P;P	0.47409	0.895;0.797	B;P	0.44359	0.319;0.447	T	0.49881	-0.8892	10	0.23891	T	0.37	-13.1397	9.3141	0.37924	0.9167:0.0:0.0833:0.0	.	1716;1663	G3XAE9;Q9Y4F4	.;F179B_HUMAN	I	1663;1716;98	ENSP00000355045:N1663I;ENSP00000354917:N1716I;ENSP00000450465:N98I	ENSP00000354917:N1716I	N	+	2	0	FAM179B	44612339	0.996000	0.38824	0.996000	0.52242	0.997000	0.91878	2.779000	0.47734	2.067000	0.61834	0.460000	0.39030	AAT		0.408	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781		T	45542589	A	T	45542589	3	4	823	1	0	0	0	0	1	0	0	0	5508	101	4	5	5062	5	FAM179B	14	45542589	Missense_Mutation	SNP	A	TCGA-Y8-A8S0-01A-11D-A36X-10		45542589	61806951	29	49524											
TSNAXIP1	80152	hgsc.bcm.edu	37	16	67860650	67860650	+	IGR	SNP	G	G	A			TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chr16:67860650G>A	ENST00000562787.1	-	0	2345				TSNAXIP1_ENST00000388833.3_Missense_Mutation_p.S432N|TSNAXIP1_ENST00000561639.1_Missense_Mutation_p.S486N|TSNAXIP1_ENST00000415766.3_Missense_Mutation_p.S417N	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)		TTTGGGCCCAGTGATGCCATG	0.463																																																0													104	112	109					16																	67860650		2198	4300	6498	SO:0001628	intergenic_variant	55815			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			chr16.hg19:g.67860650G>A			Q96I29|Q96IC6|Q96NK9|Q9H901	Missense_Mutation	SNP	ENST00000562787.1	hg19	CCDS42182.1	.	.	.	.	.	.	.	.	.	.	G	8.363	0.833505	0.16820	.	.	ENSG00000102904	ENST00000415766;ENST00000388833;ENST00000431934	.	.	.	5.8	-3.79	0.04320	.	1.114660	0.06515	N	0.738666	T	0.11067	0.0270	N	0.02011	-0.69	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	0.0;0.001;0.0;0.0;0.0;0.0	T	0.22347	-1.0219	9	0.17369	T	0.5	0.071	3.3508	0.07151	0.3102:0.4161:0.1791:0.0946	.	417;486;222;140;432;417	E7ENJ7;B4DXD0;B4DY78;Q2TAA8-2;Q2TAA8;B4E1H3	.;.;.;.;TXIP1_HUMAN;.	N	417;432;222	.	ENSP00000373485:S432N	S	+	2	0	TSNAXIP1	66418151	0.001000	0.12720	0.228000	0.23943	0.984000	0.73092	-0.275000	0.08525	-0.443000	0.07180	-0.137000	0.14449	AGT		0.463	CENPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422020.1	NM_025082		A	67860650	G	A	67860650	1	1	823	0	1	0	0	0	0	0	0	0	16637	1029	36	2		2	TSNAXIP1	16	67860650	IGR	SNP	G	TCGA-Y8-A8S0-01A-11D-A36X-10		67860650	22494103	30	49525											
FXR2	9513	hgsc.bcm.edu	37	17	7497273	7497273	+	Missense_Mutation	SNP	G	G	T			TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chr17:7497273G>T	ENST00000250113.7	-	11	1404	c.1070C>A	c.(1069-1071)gCc>gAc	p.A357D	FXR2_ENST00000573057.1_5'Flank	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	357						cytoplasm (GO:0005737)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		CAAAGCCTGGGCATTGCTGAT	0.498																																																0													72	70	71					17																	7497273		1893	4116	6009	SO:0001583	missense	9513			U31501	CCDS45604.1	17p13.3	2014-09-17				ENSG00000129245			4024	protein-coding gene	gene with protein product		605339		FMR1L2		7489725, 9259278	Standard	NM_004860		Approved		uc002gia.2	P51116		ENST00000250113.7:c.1070C>A	chr17.hg19:g.7497273G>T	ENSP00000250113:p.Ala357Asp		B2R9M2|D3DTQ1|Q86V09|Q8WUM2	Missense_Mutation	SNP	ENST00000250113.7	hg19	CCDS45604.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.102122	0.76983	.	.	ENSG00000129245	ENST00000250113	T	0.59502	0.26	5.52	5.52	0.82312	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.108232	0.64402	D	0.000007	T	0.76263	0.3963	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78884	-0.2028	10	0.87932	D	0	1.5053	10.2001	0.43077	0.0872:0.0:0.9128:0.0	.	357	P51116	FXR2_HUMAN	D	357	ENSP00000250113:A357D	ENSP00000250113:A357D	A	-	2	0	FXR2	7437998	1.000000	0.71417	1.000000	0.80357	0.538000	0.34931	3.139000	0.50577	2.873000	0.98535	0.563000	0.77884	GCC		0.498	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441084.1			T	7497273	G	T	7497273	3	4	823	1	0	0	0	0	1	0	0	0	6118	1203	42	4	879	4	FXR2	17	7497273	Missense_Mutation	SNP	G	TCGA-Y8-A8S0-01A-11D-A36X-10		7497273	73697937	31	49526											
MYH10	4628	hgsc.bcm.edu	37	17	8397110	8397110	+	Missense_Mutation	SNP	C	C	G			TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chr17:8397110C>G	ENST00000269243.4	-	30	4195	c.4057G>C	c.(4057-4059)Gag>Cag	p.E1353Q	MYH10_ENST00000360416.3_Missense_Mutation_p.E1384Q|MYH10_ENST00000396239.1_Missense_Mutation_p.E1374Q|MYH10_ENST00000379980.4_Missense_Mutation_p.E1369Q	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1353					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						TCCTCCTCCTCCTGCTGCTCC	0.587																																																0													85	77	80					17																	8397110		2203	4300	6503	SO:0001583	missense	4628			M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"Myosins / Myosin superfamily : Class II"	7568	protein-coding gene	gene with protein product		160776	"myosin, heavy polypeptide 10, non-muscle"			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.4057G>C	chr17.hg19:g.8397110C>G	ENSP00000269243:p.Glu1353Gln		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	hg19	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.496514	0.64186	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81	5.2	4.22	0.49857	Myosin tail (1);	0.051659	0.85682	D	0.000000	D	0.93203	0.7835	M	0.90759	3.145	0.80722	D	1	D;D;D	0.67145	0.996;0.995;0.996	D;D;D	0.70016	0.967;0.959;0.967	D	0.94653	0.7841	10	0.87932	D	0	.	15.2172	0.73277	0.1418:0.8582:0.0:0.0	.	1362;1384;1353	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	Q	1353;1384;1374;1369	ENSP00000269243:E1353Q;ENSP00000353590:E1384Q;ENSP00000379539:E1374Q;ENSP00000369315:E1369Q	ENSP00000269243:E1353Q	E	-	1	0	MYH10	8337835	1.000000	0.71417	1.000000	0.80357	0.297000	0.27493	7.609000	0.82925	1.401000	0.46761	-0.181000	0.13052	GAG		0.587	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			G	8397110	C	G	8397110	3	3	823	1	0	0	0	0	1	0	0	0	10032	864	30	4	1921	4	MYH10	17	8397110	Missense_Mutation	SNP	C	TCGA-Y8-A8S0-01A-11D-A36X-10	899837	8397110	72798100	32	49527											
KRTAP4-7	100132476	hgsc.bcm.edu	37	17	39240794	39240794	+	Silent	SNP	C	C	T	rs9894106|rs553572799	byFrequency	TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chr17:39240794C>T	ENST00000391417.4	+	1	336	c.336C>T	c.(334-336)ccC>ccT	p.P112P		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	137	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].		Missing. {ECO:0000269|PubMed:15955084}.		aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.R111_C115delRPSCC(1)|p.P112P(1)|p.?(1)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						gctgccgccccagctgctgcc	0.667																																																3	Unknown(1)|Substitution - coding silent(1)|Deletion - In frame(1)	NS(2)|prostate(1)											13	14	14					17																	39240794		691	1589	2280	SO:0001819	synonymous_variant	100132476			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.336C>T	chr17.hg19:g.39240794C>T			A0AVM6|A8MQ08|A8MTL4	Silent	SNP	ENST00000391417.4	hg19	CCDS45673.1																																																																																				0.667	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1			T	39240794	C	T	39240794	2	4	823	1	0	0	0	0	0	0	0	1	8557	581	21	2		2	KRTAP4-7	17	39240794	Silent	SNP	C	TCGA-Y8-A8S0-01A-11D-A36X-10	30843684	39240794	41954416	33	49528											
HSPB9	94086	hgsc.bcm.edu	37	17	40275296	40275296	+	Missense_Mutation	SNP	C	C	T			TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chr17:40275296C>T	ENST00000355067.3	+	1	541	c.428C>T	c.(427-429)cCg>cTg	p.P143L	CTD-2132N18.3_ENST00000592574.1_Intron|KAT2A_ENST00000225916.5_5'Flank	NM_033194.2	NP_149971.1	Q9BQS6	HSPB9_HUMAN	heat shock protein, alpha-crystallin-related, B9	143					response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	4		all_cancers(22;0.00064)|Breast(137;0.00104)|all_epithelial(22;0.00866)		BRCA - Breast invasive adenocarcinoma(366;0.124)		CAAACAGGACCGTCCCCGAGA	0.632																																																0													64	63	63					17																	40275296		2203	4300	6503	SO:0001583	missense	94086			AJ302068	CCDS11418.1	17q21	2011-09-02			ENSG00000197723	ENSG00000260325		"Heat shock proteins / HSPB"	30589	protein-coding gene	gene with protein product	"cancer/testis antigen 51"	608344				11470154, 12820654	Standard	NM_033194		Approved	CT51	uc002hyy.2	Q9BQS6	OTTHUMG00000133500	ENST00000355067.3:c.428C>T	chr17.hg19:g.40275296C>T	ENSP00000347178:p.Pro143Leu		B3KSG6|Q52LB4	Missense_Mutation	SNP	ENST00000355067.3	hg19	CCDS11418.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.508520	0.44660	.	.	ENSG00000197723	ENST00000355067	D	0.87966	-2.32	3.68	-0.892	0.10570	.	1.627000	0.03475	N	0.214259	T	0.78704	0.4325	L	0.29908	0.895	0.09310	N	1	B	0.18610	0.029	B	0.10450	0.005	T	0.63296	-0.6669	10	0.72032	D	0.01	-1.2069	2.6526	0.05003	0.4657:0.2817:0.1565:0.0961	.	143	Q9BQS6	HSPB9_HUMAN	L	143	ENSP00000347178:P143L	ENSP00000347178:P143L	P	+	2	0	HSPB9	37528822	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.220000	0.02971	-0.090000	0.12462	-0.311000	0.09066	CCG		0.632	HSPB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257438.1	NM_033194		T	40275296	C	T	40275296	3	4	823	1	0	0	0	0	1	0	0	0	7426	652	23	1	430	1	HSPB9	17	40275296	Missense_Mutation	SNP	C	TCGA-Y8-A8S0-01A-11D-A36X-10	1034502	40275296	40919914	34	49529											
ABCA7	10347	hgsc.bcm.edu	37	19	1059025	1059025	+	Missense_Mutation	SNP	T	T	A			TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chr19:1059025T>A	ENST00000263094.6	+	40	5635	c.5404T>A	c.(5404-5406)Tac>Aac	p.Y1802N	ABCA7_ENST00000435683.2_Missense_Mutation_p.Y1664N|ABCA7_ENST00000433129.1_Missense_Mutation_p.Y1802N	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1802	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCCAGGTATACCGTGGGCA	0.617																																																0													84	74	78					19																	1059025		2202	4300	6502	SO:0001583	missense	10347			AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"ATP binding cassette transporters / subfamily A"	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.5404T>A	chr19.hg19:g.1059025T>A	ENSP00000263094:p.Tyr1802Asn		Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	hg19	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	T	15.56	2.869028	0.51588	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.97209	-4.29;-4.29	4.33	4.33	0.51752	ABC transporter-like (1);	.	.	.	.	D	0.99105	0.9692	H	0.99074	4.42	0.45837	D	0.998707	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	D	0.98583	1.0651	9	0.87932	D	0	.	12.4481	0.55662	0.0:0.0:0.0:1.0	.	927;1802	D6W5Y0;Q8IZY2	.;ABCA7_HUMAN	N	1802	ENSP00000263094:Y1802N;ENSP00000414062:Y1802N	ENSP00000263094:Y1802N	Y	+	1	0	ABCA7	1010025	0.999000	0.42202	0.805000	0.32314	0.084000	0.17831	3.373000	0.52394	1.814000	0.52955	0.459000	0.35465	TAC		0.617	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		A	1059025	T	A	1059025	3	1	823	1	0	0	0	0	1	0	0	0	37	1406	49	5	5558	5	ABCA7	19	1059025	Missense_Mutation	SNP	T	TCGA-Y8-A8S0-01A-11D-A36X-10		1059025	58069958	35	49530											
ZNRF4	148066	hgsc.bcm.edu	37	19	5456739	5456739	+	Missense_Mutation	SNP	G	G	C	rs551914284		TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chr19:5456739G>C	ENST00000222033.4	+	1	1314	c.1237G>C	c.(1237-1239)Gag>Cag	p.E413Q		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	413						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)		CACGTCCCTGGAGGCAGAGTA	0.642																																																0													20	22	21					19																	5456739		1995	4158	6153	SO:0001583	missense	148066			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.1237G>C	chr19.hg19:g.5456739G>C	ENSP00000222033:p.Glu413Gln		A8K886|O75866	Missense_Mutation	SNP	ENST00000222033.4	hg19	CCDS42475.1	.	.	.	.	.	.	.	.	.	.	G	6.853	0.526610	0.13066	.	.	ENSG00000105428	ENST00000222033	T	0.04551	3.6	3.37	0.897	0.19258	.	2.318830	0.03673	U	0.244316	T	0.02929	0.0087	N	0.08118	0	0.09310	N	1	B	0.22604	0.072	B	0.15870	0.014	T	0.38972	-0.9636	10	0.46703	T	0.11	-10.7443	3.2713	0.06883	0.145:0.0:0.5974:0.2576	.	413	Q8WWF5	ZNRF4_HUMAN	Q	413	ENSP00000222033:E413Q	ENSP00000222033:E413Q	E	+	1	0	ZNRF4	5407739	0.853000	0.29707	0.004000	0.12327	0.002000	0.02628	1.479000	0.35453	0.705000	0.31890	0.561000	0.74099	GAG		0.642	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450924.1	NM_181710		C	5456739	G	C	5456739	3	2	823	1	0	0	0	0	1	0	0	0	18219	1175	41	4	1239	4	ZNRF4	19	5456739	Missense_Mutation	SNP	G	TCGA-Y8-A8S0-01A-11D-A36X-10	4397714	5456739	53672244	36	49531											
ZNF536	9745	hgsc.bcm.edu	37	19	31039523	31039523	+	Silent	SNP	A	A	G			TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chr19:31039523A>G	ENST00000355537.3	+	4	3144	c.2997A>G	c.(2995-2997)gcA>gcG	p.A999A		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	999					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)					ACAGCATTGCATGGCACGGCT	0.567																																																0													74	70	72					19																	31039523		2203	4300	6503	SO:0001819	synonymous_variant	9745				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"Zinc fingers, C2H2-type"	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.2997A>G	chr19.hg19:g.31039523A>G			A2RU18	Silent	SNP	ENST00000355537.3	hg19	CCDS32984.1																																																																																				0.567	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		G	31039523	A	G	31039523	2	3	823	1	0	0	0	0	0	0	0	1	17979	204	8	3		3	ZNF536	19	31039523	Silent	SNP	A	TCGA-Y8-A8S0-01A-11D-A36X-10	25582784	31039523	28089460	37	49532											
PLAC4	25825	hgsc.bcm.edu	37	21	42551433	42551433	+	Intron	SNP	G	G	A			TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chr21:42551433G>A	ENST00000330333.6	+	1	775				PLAC4_ENST00000414699.1_RNA|PLAC4_ENST00000430327.2_RNA|BACE2-IT1_ENST00000433378.1_RNA|BACE2_ENST00000347667.5_Intron|PLAC4_ENST00000440221.2_RNA|PLAC4_ENST00000536486.1_RNA|BACE2_ENST00000328735.6_Intron	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2						membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				GACGGTGTCTGGGGTGAGTGA	0.607																																																0													124	109	114					21																	42551433		2196	4275	6471	SO:0001627	intron_variant	191585			AF117892	CCDS13668.1, CCDS13669.1, CCDS13670.1	21q22.3	2011-08-11			ENSG00000182240	ENSG00000182240			934	protein-coding gene	gene with protein product		605668		AEPLC		10965118, 10830953	Standard	NM_138991		Approved	CEAP1, DRAP, ALP56	uc002yyw.3	Q9Y5Z0	OTTHUMG00000086742	ENST00000330333.6:c.312+10931G>A	chr21.hg19:g.42551433G>A			A8K7P1|Q5DIH8|Q8N2D4|Q9H2V8|Q9NZL1|Q9NZL2|Q9UJT6	Silent	SNP	ENST00000330333.6	hg19	CCDS13668.1																																																																																				0.607	BACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195056.1			A	42551433	G	A	42551433	1	1	823	0	1	0	0	0	0	0	0	0	12016	1335	47	2		2	PLAC4	21	42551433	Intron	SNP	G	TCGA-Y8-A8S0-01A-11D-A36X-10		42551433	5578462	38	49533											
COL6A2	1292	hgsc.bcm.edu	37	21	47545697	47545703	+	Splice_Site	DEL	TTGCAGG	TTGCAGG	-	rs539774519		TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	TTGCAGG	TTGCAGG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chr21:47545697_47545703delTTGCAGG	ENST00000300527.4	+	26	2073_2078	c.1969_1974delTTGCAGG	c.(1969-1974)ttgcagdel	p.LQ657fs	COL6A2_ENST00000409416.1_Splice_Site_p.LQ657fs|COL6A2_ENST00000310645.5_Splice_Site_p.LQ657fs|COL6A2_ENST00000397763.1_Splice_Site_p.LQ657fs|COL6A2_ENST00000357838.4_Splice_Site_p.LQ657fs	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	657	Nonhelical region.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|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)		TGCGGCTTGCAGGGACGCGTGTGGGCG	0.652																																																0																																										SO:0001630	splice_region_variant	1292			M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"Collagens"	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.1970-1TTGCAGG>-	chr21.hg19:g.47545697_47545703delTTGCAGG			Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Splice_Site	DEL	ENST00000300527.4	hg19	CCDS13728.1																																																																																				0.652	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1		Frame_Shift_Del	-	47545703	TTGCAGG	-	47545697	8	5	823	1	0	1	0	1	0	0	1	0	3702	202	7	0	2066	0	COL6A2	21	47545697	Splice_Site	DEL	TTGCAGG	TCGA-Y8-A8S0-01A-11D-A36X-10	4994264	47545697	584198	39	49534											
GAB4	128954	hgsc.bcm.edu	37	22	17472825	17472825	+	Missense_Mutation	SNP	T	T	C			TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chr22:17472825T>C	ENST00000400588.1	-	2	523	c.416A>G	c.(415-417)gAc>gGc	p.D139G	GAB4_ENST00000523144.1_5'UTR	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	139	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.									breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				CTCATTCATGTCCTCCCTGGT	0.522																																																0													262	266	265					22																	17472825		2203	4300	6503	SO:0001583	missense	128954			AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568		"Pleckstrin homology (PH) domain containing"	18325	protein-coding gene	gene with protein product							Standard	NM_001037814		Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.416A>G	chr22.hg19:g.17472825T>C	ENSP00000383431:p.Asp139Gly			Missense_Mutation	SNP	ENST00000400588.1	hg19	CCDS42976.1	.	.	.	.	.	.	.	.	.	.	T	12.32	1.901215	0.33535	.	.	ENSG00000215568	ENST00000400588	T	0.15952	2.38	1.81	1.81	0.25067	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.070922	0.64402	U	0.000018	T	0.35624	0.0938	M	0.84326	2.69	0.47407	D	0.999416	D	0.65815	0.995	P	0.61722	0.893	T	0.19844	-1.0293	10	0.72032	D	0.01	.	7.5812	0.27965	0.0:0.0:0.0:1.0	.	139	Q2WGN9	GAB4_HUMAN	G	139	ENSP00000383431:D139G	ENSP00000383431:D139G	D	-	2	0	GAB4	15852825	1.000000	0.71417	0.995000	0.50966	0.087000	0.18053	7.106000	0.77039	1.071000	0.40834	0.482000	0.46254	GAC		0.522	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315426.1	XM_372882		C	17472825	T	C	17472825	3	2	823	1	0	0	0	0	1	0	0	0	6153	1667	58	3	1344	3	GAB4	22	17472825	Missense_Mutation	SNP	T	TCGA-Y8-A8S0-01A-11D-A36X-10		17472825	33831741	40	49535											
MAOA	4128	hgsc.bcm.edu	37	X	43603409	43603409	+	Silent	SNP	T	T	C			TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chrX:43603409T>C	ENST00000338702.3	+	14	1551	c.1428T>C	c.(1426-1428)ccT>ccC	p.P476P	MAOA_ENST00000542639.1_Silent_p.P343P	NM_000240.3	NP_000231.1	P21397	AOFA_HUMAN	monoamine oxidase A	476					cellular biogenic amine metabolic process (GO:0006576)|dopamine catabolic process (GO:0042420)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	primary amine oxidase activity (GO:0008131)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18					Almotriptan(DB00918)|Dopamine(DB00988)|Ephedra(DB01363)|Flavin adenine dinucleotide(DB03147)|Furazolidone(DB00614)|Isocarboxazid(DB01247)|Linezolid(DB00601)|Methamphetamine(DB01577)|Minaprine(DB00805)|Moclobemide(DB01171)|Nandrolone decanoate(DB08804)|Naratriptan(DB00952)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sertraline(DB01104)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)|Zonisamide(DB00909)	TACAAGAACCTGAATCAAAGG	0.413																																																0													144	127	133					X																	43603409		2203	4300	6503	SO:0001819	synonymous_variant	4128				CCDS14260.1, CCDS59163.1	Xp11.4-p11.3	2008-02-05			ENSG00000189221	ENSG00000189221	1.4.3.4		6833	protein-coding gene	gene with protein product		309850					Standard	NM_000240		Approved		uc004dfy.4	P21397	OTTHUMG00000021387	ENST00000338702.3:c.1428T>C	chrX.hg19:g.43603409T>C			B4DF46|Q16426	Silent	SNP	ENST00000338702.3	hg19	CCDS14260.1																																																																																				0.413	MAOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056300.1	NM_000240		C	43603409	T	C	43603409	2	2	823	1	0	0	0	0	0	0	0	1	9227	1567	55	3		3	MAOA	23	43603409	Silent	SNP	T	TCGA-Y8-A8S0-01A-11D-A36X-10		43603409	111667151	41	49536											
AR	367	hgsc.bcm.edu	37	X	66765228	66765229	+	Missense_Mutation	DNP	AG	AG	GC			TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	A|G	A|G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chrX:66765228_66765229AG>GC	ENST00000374690.3	+	1	764_765	c.240_241AG>GC	c.(238-243)caAGag>caGCag	p.E81Q	AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Missense_Mutation_p.E81Q|AR_ENST00000504326.1_Missense_Mutation_p.E81Q	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	79	Gln-rich.|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)	agcagcagcaagagactagccc	0.644									Androgen Insensitivity Syndrome																																							0																																										SO:0001583	missense	367	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"Nuclear hormone receptors"	644	protein-coding gene	gene with protein product	"testicular feminization", "Kennedy disease"	313700	"dihydrotestosterone receptor", "spinal and bulbar muscular atrophy"	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	Exception_encountered	chrX.hg19:g.66765228_66765229delinsGC	ENSP00000363822:p.Glu81Gln		A2RUN2|B1AKD7|Q9UD95	Silent|Missense_Mutation	SNP	ENST00000374690.3	hg19	CCDS14387.1																																																																																				0.644	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		GC	66765229	AG	GC	66765228	3	3	823	1	0	0	0	0	1	0	0	0	836	69	3	3	242	3	AR	23	66765228	Missense_Mutation	DNP	AG	TCGA-Y8-A8S0-01A-11D-A36X-10	23161819	66765228	88505332	42	49537											
RENBP	5973	hgsc.bcm.edu	37	X	153207005	153207005	+	Missense_Mutation	SNP	A	A	G			TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chrX:153207005A>G	ENST00000393700.3	-	8	951	c.871T>C	c.(871-873)Ttc>Ctc	p.F291L	RENBP_ENST00000462086.1_5'Flank|RENBP_ENST00000369997.3_Missense_Mutation_p.F277L|RENBP_ENST00000412763.1_3'UTR	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	291					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)	CCGGAGTGGAAGGGCAACAAT	0.587																																																0													119	103	109					X																	153207005		2203	4300	6503	SO:0001583	missense	5973				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.871T>C	chrX.hg19:g.153207005A>G	ENSP00000377303:p.Phe291Leu		B4DNZ3|Q96BI6	Missense_Mutation	SNP	ENST00000393700.3	hg19	CCDS14738.2	.	.	.	.	.	.	.	.	.	.	A	12.78	2.040112	0.35989	.	.	ENSG00000102032	ENST00000393700;ENST00000369997	T;T	0.26518	1.73;1.73	5.15	5.15	0.70609	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);	0.054270	0.64402	D	0.000001	T	0.35828	0.0945	L	0.35854	1.095	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.08432	-1.0722	10	0.10377	T	0.69	-19.6509	13.0214	0.58789	1.0:0.0:0.0:0.0	.	291	P51606	RENBP_HUMAN	L	291;277	ENSP00000377303:F291L;ENSP00000359014:F277L	ENSP00000359014:F277L	F	-	1	0	RENBP	152860199	0.998000	0.40836	0.935000	0.37517	0.724000	0.41520	3.764000	0.55264	1.714000	0.51371	0.356000	0.21956	TTC		0.587	RENBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061103.3	NM_002910		G	153207005	A	G	153207005	3	3	823	1	0	0	0	0	1	0	0	0	13231	72	3	3	428	3	RENBP	23	153207005	Missense_Mutation	SNP	A	TCGA-Y8-A8S0-01A-11D-A36X-10	86441777	153207005	2063555	43	49538											
TAS1R3	83756	hgsc.bcm.edu	37	1	1267161	1267161	+	Missense_Mutation	SNP	C	C	G			TCGA-Y8-A8S1-01A-11D-A36X-10	TCGA-Y8-A8S1-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5c980b27-02f4-4e7d-bc5f-59809f2cbfd0	99aa2435-d52d-45ef-a896-64a90cac0ad3	g.chr1:1267161C>G	ENST00000339381.5	+	2	367	c.335C>G	c.(334-336)cCc>cGc	p.P112R		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	112					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)		GCCATGAAGCCCAGCCTCATG	0.642																																																0													53	55	55					1																	1267161		2201	4297	6498	SO:0001583	missense	83756			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.335C>G	chr1.hg19:g.1267161C>G	ENSP00000344411:p.Pro112Arg		Q5TA49|Q8NGW9	Missense_Mutation	SNP	ENST00000339381.5	hg19	CCDS30556.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.850317	0.51270	.	.	ENSG00000169962	ENST00000339381	D	0.85556	-2.0	5.0	5.0	0.66597	Extracellular ligand-binding receptor (1);	1.677870	0.04056	N	0.305492	D	0.94324	0.8176	M	0.84511	2.7	0.41984	D	0.990811	D	0.89917	1.0	D	0.78314	0.991	D	0.85678	0.1299	10	0.66056	D	0.02	.	16.4628	0.84069	0.0:1.0:0.0:0.0	.	112	Q7RTX0	TS1R3_HUMAN	R	112	ENSP00000344411:P112R	ENSP00000344411:P112R	P	+	2	0	TAS1R3	1257024	1.000000	0.71417	1.000000	0.80357	0.189000	0.23516	3.974000	0.56852	2.333000	0.79357	0.462000	0.41574	CCC		0.642	TAS1R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008493.1			G	1267161	C	G	1267161	3	3	824	1	0	0	0	0	1	0	0	0	15569	623	22	4	341	4	TAS1R3	1	1267161	Missense_Mutation	SNP	C	TCGA-Y8-A8S1-01A-11D-A36X-10		1267161	247983460	1	49539											
KAZ	23254	hgsc.bcm.edu	37	1	15382699	15382699	+	Missense_Mutation	SNP	T	T	C			TCGA-Y8-A8S1-01A-11D-A36X-10	TCGA-Y8-A8S1-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5c980b27-02f4-4e7d-bc5f-59809f2cbfd0	99aa2435-d52d-45ef-a896-64a90cac0ad3	g.chr1:15382699T>C	ENST00000376030.2	+	5	1133	c.839T>C	c.(838-840)cTc>cCc	p.L280P	KAZN_ENST00000422387.2_Missense_Mutation_p.L280P|KAZN_ENST00000400797.3_Missense_Mutation_p.L186P|KAZN_ENST00000503743.1_Missense_Mutation_p.L280P|KAZN_ENST00000400798.2_Missense_Mutation_p.L186P|KAZN_ENST00000361144.5_Missense_Mutation_p.L274P	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	280	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						CAGGCGGACCTCCCGCTGACC	0.657																																																0													59	54	56					1																	15382699		2203	4300	6503	SO:0001583	missense	23254			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.839T>C	chr1.hg19:g.15382699T>C	ENSP00000365198:p.Leu280Pro		B0QYQ0|B1AK78|Q5TGF1|Q674X4|Q674X6|Q6ZUD1|Q8IYN7|Q8N409|Q9UIL2|Q9UPX4	Missense_Mutation	SNP	ENST00000376030.2	hg19	CCDS152.2	.	.	.	.	.	.	.	.	.	.	T	23.9	4.474863	0.84640	.	.	ENSG00000189337	ENST00000376030;ENST00000503743;ENST00000422387;ENST00000361144;ENST00000400798;ENST00000400797	T;T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78;0.78	5.8	5.8	0.92144	.	0.121142	0.56097	D	0.000022	T	0.55609	0.1931	L	0.27053	0.805	0.80722	D	1	P;P;D;P	0.89917	0.874;0.874;1.0;0.771	B;P;D;B	0.91635	0.347;0.447;0.999;0.241	T	0.52764	-0.8532	10	0.30078	T	0.28	-17.1885	15.3662	0.74523	0.0:0.0:0.0:1.0	.	280;186;274;280	Q674X7-2;Q674X7-4;Q674X7-3;Q674X7	.;.;.;KAZRN_HUMAN	P	280;280;280;274;186;186	ENSP00000365198:L280P;ENSP00000426015:L280P;ENSP00000391728:L280P;ENSP00000354727:L274P;ENSP00000383602:L186P;ENSP00000383601:L186P	ENSP00000354727:L274P	L	+	2	0	KAZN	15255286	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.404000	0.79996	2.223000	0.72356	0.454000	0.30748	CTC		0.657	KAZN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005690.2	NM_001017999		C	15382699	T	C	15382699	3	2	824	1	0	0	0	0	1	0	0	0	7990	1551	54	3	1069	3	KAZ	1	15382699	Missense_Mutation	SNP	T	TCGA-Y8-A8S1-01A-11D-A36X-10	14115538	15382699	233867922	2	49540											
TMEM51	55092	hgsc.bcm.edu	37	1	15545932	15545932	+	Missense_Mutation	SNP	C	C	G			TCGA-Y8-A8S1-01A-11D-A36X-10	TCGA-Y8-A8S1-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5c980b27-02f4-4e7d-bc5f-59809f2cbfd0	99aa2435-d52d-45ef-a896-64a90cac0ad3	g.chr1:15545932C>G	ENST00000428417.1	+	3	901	c.455C>G	c.(454-456)cCg>cGg	p.P152R	TMEM51_ENST00000376008.2_Missense_Mutation_p.P152R|TMEM51_ENST00000400796.3_Missense_Mutation_p.P152R|TMEM51_ENST00000434578.2_3'UTR|TMEM51_ENST00000376014.3_Missense_Mutation_p.P152R	NM_001136217.1	NP_001129689.1	Q9NW97	TMM51_HUMAN	transmembrane protein 51	152						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(3)|large_intestine(2)|lung(5)|prostate(2)	14		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)		GAGCAGAACCCGAGGTTGAGC	0.582																																																0													97	92	94					1																	15545932		2203	4300	6503	SO:0001583	missense	55092			AK098467	CCDS154.1	1p36.21	2008-02-05	2005-05-22	2005-05-22	ENSG00000171729	ENSG00000171729			25488	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 72"	C1orf72		12477932	Standard	NM_018022		Approved	FLJ10199	uc001avx.3	Q9NW97	OTTHUMG00000002046	ENST00000428417.1:c.455C>G	chr1.hg19:g.15545932C>G	ENSP00000394899:p.Pro152Arg		A8K819	Missense_Mutation	SNP	ENST00000428417.1	hg19	CCDS154.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.621990	0.00820	.	.	ENSG00000171729	ENST00000428417;ENST00000376014;ENST00000451326;ENST00000434578;ENST00000400796;ENST00000376008;ENST00000303840	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	5.63	4.72	0.59763	.	0.297924	0.37906	N	0.001882	T	0.19967	0.0480	L	0.31294	0.92	0.09310	N	0.999999	B	0.10296	0.003	B	0.12837	0.008	T	0.21075	-1.0256	10	0.14252	T	0.57	-8.8165	9.3994	0.38424	0.393:0.4774:0.1296:0.0	.	152	Q9NW97	TMM51_HUMAN	R	152	ENSP00000394899:P152R;ENSP00000365182:P152R;ENSP00000383600:P152R;ENSP00000365176:P152R	ENSP00000303666:P152R	P	+	2	0	TMEM51	15418519	0.005000	0.15991	0.860000	0.33809	0.193000	0.23685	0.081000	0.14823	1.378000	0.46305	0.555000	0.69702	CCG		0.582	TMEM51-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005699.3	NM_018022		G	15545932	C	G	15545932	3	3	824	1	0	0	0	0	1	0	0	0	16182	652	23	4	461	4	TMEM51	1	15545932	Missense_Mutation	SNP	C	TCGA-Y8-A8S1-01A-11D-A36X-10	163233	15545932	233704689	3	49541											
PADI4	23569	hgsc.bcm.edu	37	1	17666248	17666248	+	Missense_Mutation	SNP	A	A	G			TCGA-Y8-A8S1-01A-11D-A36X-10	TCGA-Y8-A8S1-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5c980b27-02f4-4e7d-bc5f-59809f2cbfd0	99aa2435-d52d-45ef-a896-64a90cac0ad3	g.chr1:17666248A>G	ENST00000375448.4	+	6	618	c.592A>G	c.(592-594)Aca>Gca	p.T198A	AC004824.2_ENST00000602074.1_Intron	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	198					cellular protein modification process (GO:0006464)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|histone citrullination (GO:0036414)|histone H3-R26 citrullination (GO:0036413)|innate immune response (GO:0045087)|nucleosome assembly (GO:0006334)|protein citrullination (GO:0018101)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginine deiminase activity (GO:0016990)|calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	CACAAACCATACACTGGTGCT	0.567																																																0													147	115	125					1																	17666248		2203	4300	6503	SO:0001583	missense	23569			AB017919	CCDS180.1	1p36.13	2014-06-06	2003-02-12		ENSG00000159339	ENSG00000159339	3.5.3.15	"Peptidyl arginine deiminases"	18368	protein-coding gene	gene with protein product		605347	"peptidyl arginine deiminase, type V"	PADI5		10488123	Standard	NM_012387		Approved	PAD, PDI5, PDI4	uc001baj.2	Q9UM07	OTTHUMG00000002371	ENST00000375448.4:c.592A>G	chr1.hg19:g.17666248A>G	ENSP00000364597:p.Thr198Ala		A8K392|B2RBW0|Q5VTZ8|Q70SX4	Missense_Mutation	SNP	ENST00000375448.4	hg19	CCDS180.1	.	.	.	.	.	.	.	.	.	.	a	4.235	0.042484	0.08196	.	.	ENSG00000159339	ENST00000375448	T	0.16597	2.33	4.87	0.129	0.14739	Protein-arginine deiminase (PAD), central domain (2);	0.414765	0.24806	N	0.035446	T	0.07007	0.0178	N	0.08118	0	0.09310	N	1	B;B	0.15141	0.012;0.005	B;B	0.19666	0.026;0.018	T	0.38908	-0.9639	10	0.20046	T	0.44	-3.9969	7.645	0.28315	0.4737:0.3836:0.1427:0.0	.	198;198	A8K392;Q9UM07	.;PADI4_HUMAN	A	198	ENSP00000364597:T198A	ENSP00000364597:T198A	T	+	1	0	PADI4	17538835	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-0.349000	0.07731	0.446000	0.26666	-0.619000	0.04042	ACA		0.567	PADI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006799.1	NM_012387		G	17666248	A	G	17666248	3	3	824	1	0	0	0	0	1	0	0	0	11382	391	14	3	614	3	PADI4	1	17666248	Missense_Mutation	SNP	A	TCGA-Y8-A8S1-01A-11D-A36X-10	2120316	17666248	231584373	4	49542											
C1orf172	126695	hgsc.bcm.edu	37	1	27278714	27278714	+	Missense_Mutation	SNP	T	T	C			TCGA-Y8-A8S1-01A-11D-A36X-10	TCGA-Y8-A8S1-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5c980b27-02f4-4e7d-bc5f-59809f2cbfd0	99aa2435-d52d-45ef-a896-64a90cac0ad3	g.chr1:27278714T>C	ENST00000320567.5	-	2	246	c.158A>G	c.(157-159)cAt>cGt	p.H53R		NM_152365.2	NP_689578.2	Q8NAX2	KDF1_HUMAN		53	Pro-rich.				developmental growth (GO:0048589)|establishment of skin barrier (GO:0061436)|keratinocyte development (GO:0003334)|limb epidermis development (GO:0060887)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of stem cell proliferation (GO:2000647)|positive regulation of epidermal cell differentiation (GO:0045606)|regulation of epidermal cell division (GO:0010482)	cell cortex (GO:0005938)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		CTCTGGCCCATGGTGGCCAGG	0.632																																																0													25	30	28					1																	27278714		2203	4300	6503	SO:0001583	missense	126695																														ENST00000320567.5:c.158A>G	chr1.hg19:g.27278714T>C	ENSP00000319179:p.His53Arg		Q5QP32|Q8N0S7	Missense_Mutation	SNP	ENST00000320567.5	hg19	CCDS293.1	.	.	.	.	.	.	.	.	.	.	T	3.593	-0.083194	0.07141	.	.	ENSG00000175707	ENST00000320567;ENST00000374109	T	0.19938	2.11	4.78	3.63	0.41609	.	0.140335	0.46442	D	0.000294	T	0.05731	0.0150	N	0.02916	-0.46	0.26831	N	0.968583	B	0.02656	0.0	B	0.01281	0.0	T	0.41520	-0.9504	10	0.02654	T	1	.	3.7038	0.08392	0.0:0.2232:0.0:0.7768	.	53	Q8NAX2	CA172_HUMAN	R	53	ENSP00000319179:H53R	ENSP00000319179:H53R	H	-	2	0	C1orf172	27151301	0.445000	0.25657	1.000000	0.80357	0.998000	0.95712	4.006000	0.57083	2.005000	0.58758	0.528000	0.53228	CAT		0.632	C1orf172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012340.1			C	27278714	T	C	27278714	3	2	824	1	0	0	0	0	1	0	0	0	2015	1464	51	3	1050	3	C1orf172	1	27278714	Missense_Mutation	SNP	T	TCGA-Y8-A8S1-01A-11D-A36X-10	9612466	27278714	221971907	5	49543											
NCDN	23154	hgsc.bcm.edu	37	1	36026513	36026513	+	Missense_Mutation	SNP	C	C	G			TCGA-Y8-A8S1-01A-11D-A36X-10	TCGA-Y8-A8S1-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5c980b27-02f4-4e7d-bc5f-59809f2cbfd0	99aa2435-d52d-45ef-a896-64a90cac0ad3	g.chr1:36026513C>G	ENST00000373243.2	+	3	1144	c.761C>G	c.(760-762)cCc>cGc	p.P254R	NCDN_ENST00000356090.4_Missense_Mutation_p.P254R|NCDN_ENST00000373253.3_Missense_Mutation_p.P237R	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	254					bone resorption (GO:0045453)|neuron projection development (GO:0031175)|regulation of neuronal synaptic plasticity (GO:0048168)	cytosol (GO:0005829)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ACAACCGTGCCCCCTGAATGC	0.632																																																0													62	58	60					1																	36026513		2201	4299	6500	SO:0001583	missense	23154			AB011179	CCDS392.1, CCDS30672.1	1p34.3	2008-02-05			ENSG00000020129	ENSG00000020129			17597	protein-coding gene	gene with protein product		608458				15007648	Standard	NM_014284		Approved	NCDN-1, NCDN-2	uc001bza.3	Q9UBB6	OTTHUMG00000059204	ENST00000373243.2:c.761C>G	chr1.hg19:g.36026513C>G	ENSP00000362340:p.Pro254Arg		D3DPR9|Q9UBY2|Q9Y4A6|Q9Y4D9	Missense_Mutation	SNP	ENST00000373243.2	hg19	CCDS392.1	.	.	.	.	.	.	.	.	.	.	C	7.506	0.653673	0.14580	.	.	ENSG00000020129	ENST00000373253;ENST00000356090;ENST00000373243;ENST00000437806	T;T;T	0.68331	-0.32;-0.32;-0.32	4.76	4.76	0.60689	.	0.256266	0.37012	N	0.002286	T	0.56529	0.1991	N	0.22421	0.69	0.40225	D	0.977787	P	0.44139	0.827	P	0.45037	0.467	T	0.57676	-0.7770	10	0.33940	T	0.23	.	13.3806	0.60764	0.0:0.8286:0.1714:0.0	.	254	Q9UBB6	NCDN_HUMAN	R	237;254;254;237	ENSP00000362350:P237R;ENSP00000348394:P254R;ENSP00000362340:P254R	ENSP00000348394:P254R	P	+	2	0	NCDN	35799100	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	2.780000	0.47742	2.472000	0.83506	0.561000	0.74099	CCC		0.632	NCDN-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131298.1	NM_014284		G	36026513	C	G	36026513	3	3	824	1	0	0	0	0	1	0	0	0	10216	623	22	4	771	4	NCDN	1	36026513	Missense_Mutation	SNP	C	TCGA-Y8-A8S1-01A-11D-A36X-10	8747799	36026513	213224108	6	49544											
KDM4A	9682	hgsc.bcm.edu	37	1	44128602	44128602	+	Missense_Mutation	SNP	T	T	A			TCGA-Y8-A8S1-01A-11D-A36X-10	TCGA-Y8-A8S1-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5c980b27-02f4-4e7d-bc5f-59809f2cbfd0	99aa2435-d52d-45ef-a896-64a90cac0ad3	g.chr1:44128602T>A	ENST00000372396.3	+	5	601	c.467T>A	c.(466-468)aTc>aAc	p.I156N	KDM4A_ENST00000463151.1_3'UTR	NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	156	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				cardiac muscle hypertrophy in response to stress (GO:0014898)|histone demethylation (GO:0016577)|histone H3-K36 demethylation (GO:0070544)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|methylated histone binding (GO:0035064)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						CTGAGAACAATCCTGGACTTG	0.488																																																0													191	164	173					1																	44128602		2203	4300	6503	SO:0001583	missense	9682			AB014577	CCDS491.1	1p34.1	2013-01-23	2009-04-06	2009-04-06	ENSG00000066135	ENSG00000066135		"Chromatin-modifying enzymes / K-demethylases", "Tudor domain containing"	22978	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 3A", "tudor domain containing 14A"	609764	"jumonji domain containing 2", "jumonji domain containing 2A"	JMJD2, JMJD2A		9734811, 15138608	Standard	XM_005271354		Approved	KIAA0677, JHDM3A, TDRD14A	uc001cjx.3	O75164	OTTHUMG00000007560	ENST00000372396.3:c.467T>A	chr1.hg19:g.44128602T>A	ENSP00000361473:p.Ile156Asn		Q5VVB1	Missense_Mutation	SNP	ENST00000372396.3	hg19	CCDS491.1	.	.	.	.	.	.	.	.	.	.	T	29.7	5.027980	0.93518	.	.	ENSG00000066135	ENST00000372396	T	0.72051	-0.62	5.88	5.88	0.94601	Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.000000	0.85682	D	0.000000	D	0.84982	0.5593	M	0.79693	2.465	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.965;0.997	D	0.86851	0.2023	10	0.72032	D	0.01	-1.527	16.2948	0.82765	0.0:0.0:0.0:1.0	.	156;156	B4DT38;O75164	.;KDM4A_HUMAN	N	156	ENSP00000361473:I156N	ENSP00000361473:I156N	I	+	2	0	KDM4A	43901189	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	8.027000	0.88791	2.253000	0.74438	0.455000	0.32223	ATC		0.488	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019960.1	NM_014663		A	44128602	T	A	44128602	3	1	824	1	0	0	0	0	1	0	0	0	8130	1435	50	5	481	5	KDM4A	1	44128602	Missense_Mutation	SNP	T	TCGA-Y8-A8S1-01A-11D-A36X-10	8102089	44128602	205122019	7	49545											
LCE4A	199834	hgsc.bcm.edu	37	1	152681679	152681680	+	Missense_Mutation	DNP	CC	CC	GT	rs6143428|rs11269814|rs200890315	byFrequency	TCGA-Y8-A8S1-01A-11D-A36X-10	TCGA-Y8-A8S1-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5c980b27-02f4-4e7d-bc5f-59809f2cbfd0	99aa2435-d52d-45ef-a896-64a90cac0ad3	g.chr1:152681679_152681680CC>GT	ENST00000368777.1	+	2	384_385	c.128_129CC>GT	c.(127-129)tCC>tGT	p.S43C	LCE4A_ENST00000335535.3_Missense_Mutation_p.S43C			Q5TA78	LCE4A_HUMAN	late cornified envelope 4A	43	Cys-rich.				keratinization (GO:0031424)					endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.116)			TGCTGTGGCTCCAGCTCTGGGG	0.599																																																0																																										SO:0001583	missense	199834			BI670517	CCDS1022.1	1q22	2008-02-05	2004-10-11	2004-10-15	ENSG00000187170	ENSG00000187170		"Late cornified envelopes"	16613	protein-coding gene	gene with protein product		612618	"small proline rich-like (epidermal differentiation complex) 4A"	SPRL4A		11698679	Standard	NM_178356		Approved	LEP8	uc001fak.2	Q5TA78	OTTHUMG00000014394	Exception_encountered	chr1.hg19:g.152681679_152681680delinsGT	ENSP00000357766:p.Ser43Cys		Q14D97	Missense_Mutation|Silent	SNP	ENST00000368777.1	hg19	CCDS1022.1																																																																																				0.599	LCE4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040048.1	NM_178356		GT	152681680	CC	GT	152681679	3	3	824	1	0	0	0	0	1	0	0	0	8676	855	30	4	130	4	LCE4A	1	152681679	Missense_Mutation	DNP	CC	TCGA-Y8-A8S1-01A-11D-A36X-10	108553077	152681679	96568942	8	49546											
KLF11	8462	hgsc.bcm.edu	37	2	10192452	10192453	+	Missense_Mutation	DNP	AA	AA	TT			TCGA-Y8-A8S1-01A-11D-A36X-10	TCGA-Y8-A8S1-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5c980b27-02f4-4e7d-bc5f-59809f2cbfd0	99aa2435-d52d-45ef-a896-64a90cac0ad3	g.chr2:10192452_10192453AA>TT	ENST00000305883.1	+	4	1519_1520	c.1357_1358AA>TT	c.(1357-1359)AAg>TTg	p.K453L	RP11-254F7.3_ENST00000607181.1_RNA|KLF11_ENST00000535335.1_Missense_Mutation_p.K436L|KLF11_ENST00000540845.1_Missense_Mutation_p.K436L	NM_003597.4	NP_003588.1	O14901	KLF11_HUMAN	Kruppel-like factor 11	453					apoptotic process (GO:0006915)|cellular response to peptide (GO:1901653)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	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)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		AGGGGAGAAGAAGTTTGTGTGC	0.569																																					Melanoma(56;431 1507 23687 50789)											0																																										SO:0001583	missense	8462			AF028008	CCDS1668.1, CCDS54333.1	2p25	2013-01-08	2004-11-29	2004-12-01	ENSG00000172059	ENSG00000172059		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	11811	protein-coding gene	gene with protein product		603301	"TGFB inducible early growth response 2"	TIEG2		9748269, 11087666	Standard	NM_001177716		Approved	Tieg3, MODY7	uc002raf.1	O14901	OTTHUMG00000119004	Exception_encountered	chr2.hg19:g.10192452_10192453delinsTT	ENSP00000307023:p.Lys453Leu		B4DZE7|Q9EPF4	Nonsense_Mutation|Missense_Mutation	SNP	ENST00000305883.1	hg19	CCDS1668.1																																																																																				0.569	KLF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000239202.3	NM_003597		TT	10192453	AA	TT	10192452	3	4	824	1	0	0	0	0	1	0	0	0	8341	247	9	5	1371	5	KLF11	2	10192452	Missense_Mutation	DNP	AA	TCGA-Y8-A8S1-01A-11D-A36X-10		10192452	233006921	9	49547											
SMC6	79677	hgsc.bcm.edu	37	2	17888505	17888505	+	Missense_Mutation	SNP	C	C	G			TCGA-Y8-A8S1-01A-11D-A36X-10	TCGA-Y8-A8S1-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5c980b27-02f4-4e7d-bc5f-59809f2cbfd0	99aa2435-d52d-45ef-a896-64a90cac0ad3	g.chr2:17888505C>G	ENST00000448223.2	-	18	2256	c.1987G>C	c.(1987-1989)Gat>Cat	p.D663H	SMC6_ENST00000351948.4_Missense_Mutation_p.D663H|SMC6_ENST00000402989.1_Missense_Mutation_p.D663H|SMC6_ENST00000381272.4_Missense_Mutation_p.D689H	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	663					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GAATCCACATCTCTGCTTAGG	0.363																																																0													139	140	139					2																	17888505		2203	4300	6503	SO:0001583	missense	79677			AJ310551	CCDS1690.1	2p24.3	2008-02-05	2006-07-06	2006-07-06	ENSG00000163029	ENSG00000163029		"Structural maintenance of chromosomes proteins"	20466	protein-coding gene	gene with protein product		609387	"SMC6 structural maintenance of chromosomes 6-like 1 (yeast)"	SMC6L1		11230166	Standard	NM_024624		Approved	FLJ22116	uc002rcn.3	Q96SB8	OTTHUMG00000090675	ENST00000448223.2:c.1987G>C	chr2.hg19:g.17888505C>G	ENSP00000404092:p.Asp663His		A8K8Q6|D6W518|Q05BV4|Q9H0X3|Q9H6M0	Missense_Mutation	SNP	ENST00000448223.2	hg19	CCDS1690.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.660667	0.88154	.	.	ENSG00000163029	ENST00000448223;ENST00000351948;ENST00000381272;ENST00000402989;ENST00000446852	T;T;T;T;T	0.29917	2.54;2.54;2.07;2.54;1.55	6.02	6.02	0.97574	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	T	0.57814	0.2079	M	0.68593	2.085	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.993;0.998	T	0.54397	-0.8300	10	0.59425	D	0.04	.	20.5373	0.99239	0.0:1.0:0.0:0.0	.	689;689;663	C9JMN1;Q96SB8-2;Q96SB8	.;.;SMC6_HUMAN	H	663;663;689;663;689	ENSP00000404092:D663H;ENSP00000323439:D663H;ENSP00000370672:D689H;ENSP00000384539:D663H;ENSP00000408644:D689H	ENSP00000323439:D663H	D	-	1	0	SMC6	17751986	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	6.427000	0.73378	2.857000	0.98124	0.650000	0.86243	GAT		0.363	SMC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207359.1	NM_024624		G	17888505	C	G	17888505	3	3	824	1	0	0	0	0	1	0	0	0	14793	913	32	4	1332	4	SMC6	2	17888505	Missense_Mutation	SNP	C	TCGA-Y8-A8S1-01A-11D-A36X-10	7696053	17888505	225310868	10	49548											
NCL	4691	hgsc.bcm.edu	37	2	232325414	232325414	+	Missense_Mutation	SNP	T	T	A	rs540030591|rs139777351|rs371359723|rs199689485|rs527711138|rs368566589	byFrequency	TCGA-Y8-A8S1-01A-11D-A36X-10	TCGA-Y8-A8S1-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5c980b27-02f4-4e7d-bc5f-59809f2cbfd0	99aa2435-d52d-45ef-a896-64a90cac0ad3	g.chr2:232325414T>A	ENST00000322723.4	-	4	1017	c.777A>T	c.(775-777)gaA>gaT	p.E259D	SNORD82_ENST00000365530.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	259	Asp/Glu-rich (acidic).				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)		CCtcatcatcttcatcatcat	0.438																																																0													229	194	206					2																	232325414		2203	4300	6503	SO:0001583	missense	4691				CCDS33397.1	2q37.1	2013-09-19			ENSG00000115053	ENSG00000115053		"RNA binding motif (RRM) containing"	7667	protein-coding gene	gene with protein product		164035				2394707, 3409881	Standard	NM_005381		Approved	C23	uc002vru.3	P19338	OTTHUMG00000153866	ENST00000322723.4:c.777A>T	chr2.hg19:g.232325414T>A	ENSP00000318195:p.Glu259Asp		Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	Missense_Mutation	SNP	ENST00000322723.4	hg19	CCDS33397.1	.	.	.	.	.	.	.	.	.	.	T	0.028	-1.357543	0.01245	.	.	ENSG00000115053	ENST00000322723;ENST00000392033	T	0.23552	1.9	4.93	-9.86	0.00473	.	1.633390	0.02710	N	0.112777	T	0.06554	0.0168	N	0.03608	-0.345	0.19945	N	0.999949	B	0.02656	0.0	B	0.08055	0.003	T	0.26677	-1.0096	10	0.02654	T	1	0.5096	0.6058	0.00752	0.2352:0.1751:0.2128:0.3769	.	259	P19338	NUCL_HUMAN	D	259;151	ENSP00000318195:E259D	ENSP00000318195:E259D	E	-	3	2	NCL	232033658	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.197000	0.00276	-4.228000	0.00063	-3.370000	0.00041	GAA		0.438	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332731.1	NM_005381		A	232325414	T	A	232325414	3	1	824	1	0	0	0	0	1	0	0	0	10228	1606	56	5	1399	5	NCL	2	232325414	Missense_Mutation	SNP	T	TCGA-Y8-A8S1-01A-11D-A36X-10	214436909	232325414	10873959	11	49549											
ZNF619	285267	hgsc.bcm.edu	37	3	40528724	40528724	+	Silent	SNP	C	C	T			TCGA-Y8-A8S1-01A-11D-A36X-10	TCGA-Y8-A8S1-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5c980b27-02f4-4e7d-bc5f-59809f2cbfd0	99aa2435-d52d-45ef-a896-64a90cac0ad3	g.chr3:40528724C>T	ENST00000314686.5	+	6	1080	c.675C>T	c.(673-675)ttC>ttT	p.F225F	ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000521353.1_Silent_p.F281F|ZNF619_ENST00000522736.1_Silent_p.F232F|ZNF619_ENST00000429348.2_Silent_p.F241F|ZNF619_ENST00000432264.2_Silent_p.F241F|ZNF619_ENST00000447116.2_Silent_p.F281F|ZNF619_ENST00000456778.1_Silent_p.F197F			Q8N2I2	ZN619_HUMAN	zinc finger protein 619	225					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GGAAAACCTTCAGATATAACT	0.438																																																0													59	60	60					3																	40528724		2203	4300	6503	SO:0001819	synonymous_variant	285267			AK075245	CCDS46801.1, CCDS46802.1, CCDS46803.1	3p21.33	2013-01-08			ENSG00000177873	ENSG00000177873		"Zinc fingers, C2H2-type", "-"	26910	protein-coding gene	gene with protein product							Standard	NM_001145083		Approved	FLJ90764	uc011azb.2	Q8N2I2	OTTHUMG00000131391	ENST00000314686.5:c.675C>T	chr3.hg19:g.40528724C>T			B4E271|C9JRN5|D4PHA2|E9PCD9	Silent	SNP	ENST00000314686.5	hg19																																																																																					0.438	ZNF619-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000254180.2	NM_173656		T	40528724	C	T	40528724	2	4	824	1	0	0	0	0	0	0	0	1	18048	825	29	2		2	ZNF619	3	40528724	Silent	SNP	C	TCGA-Y8-A8S1-01A-11D-A36X-10		40528724	157493706	12	49550											
TMIE	259236	hgsc.bcm.edu	37	3	46751076	46751076	+	Missense_Mutation	SNP	G	G	T	rs552239745|rs397817178|rs10578999|rs544504092|rs538183178|rs71619660|rs75020261	byFrequency	TCGA-Y8-A8S1-01A-11D-A36X-10	TCGA-Y8-A8S1-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5c980b27-02f4-4e7d-bc5f-59809f2cbfd0	99aa2435-d52d-45ef-a896-64a90cac0ad3	g.chr3:46751076G>T	ENST00000326431.3	+	4	524	c.369G>T	c.(367-369)aaG>aaT	p.K123N		NM_147196.2	NP_671729.2	Q8NEW7	TMIE_HUMAN	transmembrane inner ear	123	Lys-rich.				inner ear morphogenesis (GO:0042472)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				endometrium(1)|lung(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000688)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		CAGAGGATaagaagaagaaga	0.502																																																0													56	61	60					3																	46751076		1899	4121	6020	SO:0001583	missense	259236			AY081842	CCDS43081.1	3p21	2010-01-06	2004-05-19		ENSG00000181585	ENSG00000181585			30800	protein-coding gene	gene with protein product		607237	"deafness, autosomal recessive 6"	DFNB6		12140191, 12145746	Standard	NM_147196		Approved		uc010hjk.1	Q8NEW7	OTTHUMG00000149909	ENST00000326431.3:c.369G>T	chr3.hg19:g.46751076G>T	ENSP00000324775:p.Lys123Asn		A0AV93|A8K0R0	Missense_Mutation	SNP	ENST00000326431.3	hg19	CCDS43081.1	.	.	.	.	.	.	.	.	.	.	G	4.335	0.061563	0.08339	.	.	ENSG00000181585	ENST00000326431	D	0.86230	-2.09	.	.	.	.	0.415784	0.26349	N	0.024899	T	0.76821	0.4041	L	0.40543	1.245	0.09310	N	1	B	0.25441	0.126	B	0.06405	0.002	T	0.64765	-0.6330	8	0.48119	T	0.1	-5.4402	.	.	.	.	123	Q8NEW7	TMIE_HUMAN	N	123	ENSP00000324775:K123N	ENSP00000324775:K123N	K	+	3	2	TMIE	46726080	0.976000	0.34144	0.425000	0.26659	0.475000	0.33008	1.894000	0.39768	0.121000	0.18284	0.123000	0.15791	AAG		0.502	TMIE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313853.1	NM_147196		T	46751076	G	T	46751076	3	4	824	1	0	0	0	0	1	0	0	0	16234	933	33	4	383	4	TMIE	3	46751076	Missense_Mutation	SNP	G	TCGA-Y8-A8S1-01A-11D-A36X-10	6222352	46751076	151271354	13	49551											
CELSR3	1951	hgsc.bcm.edu	37	3	48690465	48690465	+	Silent	SNP	A	A	T			TCGA-Y8-A8S1-01A-11D-A36X-10	TCGA-Y8-A8S1-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5c980b27-02f4-4e7d-bc5f-59809f2cbfd0	99aa2435-d52d-45ef-a896-64a90cac0ad3	g.chr3:48690465A>T	ENST00000164024.4	-	10	5884	c.5604T>A	c.(5602-5604)ctT>ctA	p.L1868L	CELSR3_ENST00000544264.1_Silent_p.L1868L	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1868	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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)		GTGAGACCATAAGGACATGGT	0.597																																																0													56	66	62					3																	48690465		2203	4300	6503	SO:0001819	synonymous_variant	1951			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3230	protein-coding gene	gene with protein product	"flamingo homolog 1 (Drosophila)"	604264	"cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.5604T>A	chr3.hg19:g.48690465A>T			O75092	Silent	SNP	ENST00000164024.4	hg19	CCDS2775.1																																																																																				0.597	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		T	48690465	A	T	48690465	2	4	824	1	0	0	0	0	0	0	0	1	3225	349	13	5		5	CELSR3	3	48690465	Silent	SNP	A	TCGA-Y8-A8S1-01A-11D-A36X-10	1939389	48690465	149331965	14	49552											
TMF1	7110	hgsc.bcm.edu	37	3	69097304	69097307	+	Frame_Shift_Del	DEL	TTCT	TTCT	-			TCGA-Y8-A8S1-01A-11D-A36X-10	TCGA-Y8-A8S1-10A-01D-A370-10	TTCT	TTCT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5c980b27-02f4-4e7d-bc5f-59809f2cbfd0	99aa2435-d52d-45ef-a896-64a90cac0ad3	g.chr3:69097304_69097307delTTCT	ENST00000398559.2	-	2	765_768	c.549_552delAGAA	c.(547-552)aaagaafs	p.KE183fs	CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|TMF1_ENST00000543976.1_Frame_Shift_Del_p.KE183fs|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|MIR3136_ENST00000583498.1_RNA			P82094	TMF1_HUMAN	TATA element modulatory factor 1	183					acrosome assembly (GO:0001675)|cellular response to organic cyclic compound (GO:0071407)|defense response to bacterium (GO:0042742)|Leydig cell differentiation (GO:0033327)|luteinizing hormone secretion (GO:0032275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|positive regulation of cytokine production (GO:0001819)|positive regulation of testosterone secretion (GO:2000845)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|sperm motility (GO:0030317)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription cofactor activity (GO:0003712)			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		TCATATCCGATTCTTTATTAACAG	0.382																																																0																																										SO:0001589	frameshift_variant	7110				CCDS43105.1	3p21-p12	2009-02-11			ENSG00000144747	ENSG00000144747			11870	protein-coding gene	gene with protein product		601126				1409643	Standard	NM_007114		Approved	ARA160, TMF	uc003dnn.3	P82094	OTTHUMG00000158771	ENST00000398559.2:c.549_552delAGAA	chr3.hg19:g.69097304_69097307delTTCT	ENSP00000381567:p.Lys183fs		B7ZLJ2|Q17R87|Q59GK0	Frame_Shift_Del	DEL	ENST00000398559.2	hg19	CCDS43105.1																																																																																				0.382	TMF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352106.1	NM_007114		-	69097307	TTCT	-	69097304	7	5	824	1	0	1	0	1	0	0	0	0	16233	1490	52	0	2793	0	TMF1	3	69097304	Frame_Shift_Del	DEL	TTCT	TCGA-Y8-A8S1-01A-11D-A36X-10	20406839	69097304	128925126	15	49553											
EPHA3	2042	hgsc.bcm.edu	37	3	89498468	89498468	+	Missense_Mutation	SNP	C	C	T			TCGA-Y8-A8S1-01A-11D-A36X-10	TCGA-Y8-A8S1-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5c980b27-02f4-4e7d-bc5f-59809f2cbfd0	99aa2435-d52d-45ef-a896-64a90cac0ad3	g.chr3:89498468C>T	ENST00000336596.2	+	14	2665	c.2440C>T	c.(2440-2442)Ctc>Ttc	p.L814F	EPHA3_ENST00000494014.1_Missense_Mutation_p.L814F	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	814	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)		TGGGATTGTTCTCTGGGAGGT	0.453										TSP Lung(6;0.00050)																																						0													260	238	246					3																	89498468		2203	4300	6503	SO:0001583	missense	2042			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.2440C>T	chr3.hg19:g.89498468C>T	ENSP00000337451:p.Leu814Phe		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	hg19	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.544374	0.86022	.	.	ENSG00000044524	ENST00000336596;ENST00000494014	T;T	0.69806	-0.43;-0.43	5.34	5.34	0.76211	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	T	0.82171	0.4979	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.82186	-0.0582	9	.	.	.	.	19.0702	0.93130	0.0:1.0:0.0:0.0	.	814	P29320	EPHA3_HUMAN	F	814	ENSP00000337451:L814F;ENSP00000419190:L814F	.	L	+	1	0	EPHA3	89581158	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.839000	0.55835	2.507000	0.84556	0.655000	0.94253	CTC		0.453	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		T	89498468	C	T	89498468	3	4	824	1	0	0	0	0	1	0	0	0	5170	913	32	2	2520	2	EPHA3	3	89498468	Missense_Mutation	SNP	C	TCGA-Y8-A8S1-01A-11D-A36X-10	20401164	89498468	108523962	16	49554											
OR5H14	403273	hgsc.bcm.edu	37	3	97868711	97868711	+	Missense_Mutation	SNP	G	G	A			TCGA-Y8-A8S1-01A-11D-A36X-10	TCGA-Y8-A8S1-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5c980b27-02f4-4e7d-bc5f-59809f2cbfd0	99aa2435-d52d-45ef-a896-64a90cac0ad3	g.chr3:97868711G>A	ENST00000437310.1	+	1	542	c.482G>A	c.(481-483)gGa>gAa	p.G161E	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	161						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						ATCCATGAAGGATTTTTATTC	0.348																																																0													102	104	103					3																	97868711		2202	4300	6502	SO:0001583	missense	403273				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.482G>A	chr3.hg19:g.97868711G>A	ENSP00000401706:p.Gly161Glu		B9EH15	Missense_Mutation	SNP	ENST00000437310.1	hg19	CCDS33798.1	.	.	.	.	.	.	.	.	.	.	G	7.995	0.754074	0.15778	.	.	ENSG00000236032	ENST00000437310	T	0.37411	1.2	2.49	-1.46	0.08800	GPCR, rhodopsin-like superfamily (1);	0.899723	0.09201	N	0.834639	T	0.43743	0.1261	M	0.83118	2.625	0.09310	N	1	P	0.40731	0.728	P	0.45794	0.493	T	0.37641	-0.9697	10	0.37606	T	0.19	.	5.877	0.18834	0.0:0.4119:0.268:0.3201	.	161	A6NHG9	O5H14_HUMAN	E	161	ENSP00000401706:G161E	ENSP00000401706:G161E	G	+	2	0	OR5H14	99351401	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.034000	0.01424	-0.640000	0.05495	-1.112000	0.02068	GGA		0.348	OR5H14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359112.1			A	97868711	G	A	97868711	3	1	824	1	0	0	0	0	1	0	0	0	11162	1174	41	2	484	2	OR5H14	3	97868711	Missense_Mutation	SNP	G	TCGA-Y8-A8S1-01A-11D-A36X-10	8370243	97868711	100153719	17	49555											
PDS5A	23244	hgsc.bcm.edu	37	4	39910143	39910143	+	Missense_Mutation	SNP	A	A	G			TCGA-Y8-A8S1-01A-11D-A36X-10	TCGA-Y8-A8S1-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5c980b27-02f4-4e7d-bc5f-59809f2cbfd0	99aa2435-d52d-45ef-a896-64a90cac0ad3	g.chr4:39910143A>G	ENST00000303538.8	-	11	1644	c.1105T>C	c.(1105-1107)Tca>Cca	p.S369P	PDS5A_ENST00000503396.1_Missense_Mutation_p.S369P	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						GGATCATGTGATCTAACCTTT	0.343																																																0													99	92	94					4																	39910143		1834	4086	5920	SO:0001583	missense	23244			AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.1105T>C	chr4.hg19:g.39910143A>G	ENSP00000303427:p.Ser369Pro			Missense_Mutation	SNP	ENST00000303538.8	hg19	CCDS47045.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.384751	0.82792	.	.	ENSG00000121892	ENST00000303538;ENST00000503396	T;T	0.68765	-0.13;-0.35	4.93	4.93	0.64822	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.76630	0.4014	M	0.62723	1.935	0.80722	D	1	D;P	0.54047	0.964;0.938	P;P	0.60541	0.709;0.876	T	0.76833	-0.2813	9	.	.	.	-4.4602	14.5742	0.68235	1.0:0.0:0.0:0.0	.	369;369	Q29RF7-3;Q29RF7	.;PDS5A_HUMAN	P	369	ENSP00000303427:S369P;ENSP00000426749:S369P	.	S	-	1	0	PDS5A	39586538	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.315000	0.96313	1.853000	0.53794	0.455000	0.32223	TCA		0.343	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361287.1	NM_015200		G	39910143	A	G	39910143	3	3	824	1	0	0	0	0	1	0	0	0	11693	333	12	3	3033	3	PDS5A	4	39910143	Missense_Mutation	SNP	A	TCGA-Y8-A8S1-01A-11D-A36X-10		39910143	151244133	18	49556											
SHROOM3	57619	hgsc.bcm.edu	37	4	77661777	77661777	+	Frame_Shift_Del	DEL	T	T	-			TCGA-Y8-A8S1-01A-11D-A36X-10	TCGA-Y8-A8S1-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5c980b27-02f4-4e7d-bc5f-59809f2cbfd0	99aa2435-d52d-45ef-a896-64a90cac0ad3	g.chr4:77661777delT	ENST00000296043.6	+	5	3404	c.2451delT	c.(2449-2451)actfs	p.T817fs		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	817					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)			CCGTCTCAACTTCCAGTACTT	0.537																																																0													67	76	73					4																	77661777		2203	4300	6503	SO:0001589	frameshift_variant	57619			AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.2451delT	chr4.hg19:g.77661777delT	ENSP00000296043:p.Thr817fs		Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Frame_Shift_Del	DEL	ENST00000296043.6	hg19	CCDS3579.2																																																																																				0.537	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		-	77661777	T	-	77661777	7	5	824	1	0	1	0	1	0	0	0	0	14301	1596	56	0	2469	0	SHROOM3	4	77661777	Frame_Shift_Del	DEL	T	TCGA-Y8-A8S1-01A-11D-A36X-10	37751634	77661777	113492499	19	49557											
HNRPDL	9987	hgsc.bcm.edu	37	4	83350434	83350434	+	Missense_Mutation	SNP	T	T	C			TCGA-Y8-A8S1-01A-11D-A36X-10	TCGA-Y8-A8S1-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5c980b27-02f4-4e7d-bc5f-59809f2cbfd0	99aa2435-d52d-45ef-a896-64a90cac0ad3	g.chr4:83350434T>C	ENST00000295470.5	-	1	585	c.410A>G	c.(409-411)aAg>aGg	p.K137R	ENOPH1_ENST00000273920.3_5'Flank|HNRNPDL_ENST00000602300.1_Missense_Mutation_p.K18R|HNRNPDL_ENST00000502762.1_Missense_Mutation_p.K137R|ENOPH1_ENST00000509635.1_5'Flank|HNRNPDL_ENST00000514511.1_5'UTR|HNRNPDL_ENST00000349655.4_Missense_Mutation_p.K18R	NM_001207000.1|NM_031372.3	NP_001193929.1|NP_112740.1	O14979	HNRDL_HUMAN	heterogeneous nuclear ribonucleoprotein D-like	137					regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|single-stranded DNA binding (GO:0003697)										CGCGTTGATCTTGGATCCCTC	0.627																																																0													108	119	115					4																	83350434		2203	4300	6503	SO:0001583	missense	9987			D89092	CCDS3593.1, CCDS75153.1	4q21.22	2013-06-12		2013-06-12	ENSG00000152795	ENSG00000152795		"RNA binding motif (RRM) containing"	5037	protein-coding gene	gene with protein product		607137		HNRPDL		10072754, 9524220	Standard	NM_001207000		Approved	JKTBP, laAUF1	uc003hmr.3	O14979	OTTHUMG00000130299	ENST00000295470.5:c.410A>G	chr4.hg19:g.83350434T>C	ENSP00000295470:p.Lys137Arg		Q6SPF2|Q7KZ74|Q7KZ75|Q96IM0|Q96S43	Missense_Mutation	SNP	ENST00000295470.5	hg19	CCDS3593.1	.	.	.	.	.	.	.	.	.	.	t	16.13	3.036489	0.54896	.	.	ENSG00000152795	ENST00000295470;ENST00000502762;ENST00000349655	T;T;T	0.67345	-0.26;-0.26;-0.1	4.84	4.84	0.62591	Nucleotide-binding, alpha-beta plait (1);	0.064498	0.64402	D	0.000016	T	0.62804	0.2458	L	0.58101	1.795	0.43480	D	0.995701	B;B	0.21520	0.038;0.057	B;B	0.24155	0.051;0.034	T	0.59679	-0.7409	10	0.27785	T	0.31	.	14.2367	0.65932	0.0:0.0:0.0:1.0	.	18;137	O14979-3;O14979	.;HNRDL_HUMAN	R	137;137;18	ENSP00000295470:K137R;ENSP00000422040:K137R;ENSP00000338552:K18R	ENSP00000295470:K137R	K	-	2	0	HNRPDL	83569458	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	3.732000	0.55021	2.029000	0.59856	0.397000	0.26171	AAG		0.627	HNRNPDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252644.1	NM_005463		C	83350434	T	C	83350434	3	2	824	1	0	0	0	0	1	0	0	0	7278	1609	56	3	880	3	HNRPDL	4	83350434	Missense_Mutation	SNP	T	TCGA-Y8-A8S1-01A-11D-A36X-10	5688657	83350434	107803842	20	49558											
SV2C	22987	hgsc.bcm.edu	37	5	75596667	75596667	+	Missense_Mutation	SNP	T	T	G			TCGA-Y8-A8S1-01A-11D-A36X-10	TCGA-Y8-A8S1-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5c980b27-02f4-4e7d-bc5f-59809f2cbfd0	99aa2435-d52d-45ef-a896-64a90cac0ad3	g.chr5:75596667T>G	ENST00000502798.2	+	11	2192	c.1750T>G	c.(1750-1752)Ttt>Gtt	p.F584V	RP11-466P24.6_ENST00000502589.1_RNA|SV2C_ENST00000322285.7_Missense_Mutation_p.F584V	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	584					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)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		CTGGATTTATTTTGTCAACTT	0.403																																																0													215	197	203					5																	75596667		1886	4099	5985	SO:0001583	missense	22987			AB028977	CCDS43331.1, CCDS75261.1	5q13	2008-02-05			ENSG00000122012	ENSG00000122012			30670	protein-coding gene	gene with protein product		610291				10470851, 9801366	Standard	XM_005248470		Approved		uc003kei.1	Q496J9	OTTHUMG00000162384	ENST00000502798.2:c.1750T>G	chr5.hg19:g.75596667T>G	ENSP00000423541:p.Phe584Val		Q496K1|Q9UPU8	Missense_Mutation	SNP	ENST00000502798.2	hg19	CCDS43331.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.539849	0.85917	.	.	ENSG00000122012	ENST00000502798;ENST00000322285	T;T	0.58506	0.48;0.33	5.68	5.68	0.88126	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.54598	0.1868	N	0.17082	0.46	0.80722	D	1	P	0.42871	0.792	P	0.50537	0.643	T	0.59568	-0.7430	10	0.54805	T	0.06	-18.9286	15.9159	0.79517	0.0:0.0:0.0:1.0	.	584	Q496J9	SV2C_HUMAN	V	584	ENSP00000423541:F584V;ENSP00000316983:F584V	ENSP00000316983:F584V	F	+	1	0	SV2C	75632423	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.163000	0.67991	0.482000	0.46254	TTT		0.403	SV2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368700.4			G	75596667	T	G	75596667	3	3	824	1	0	0	0	0	1	0	0	0	15424	1841	64	5	1788	5	SV2C	5	75596667	Missense_Mutation	SNP	T	TCGA-Y8-A8S1-01A-11D-A36X-10		75596667	105318593	21	49559											
AFAP1L1	134265	hgsc.bcm.edu	37	5	148679111	148679111	+	Missense_Mutation	SNP	G	G	T			TCGA-Y8-A8S1-01A-11D-A36X-10	TCGA-Y8-A8S1-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5c980b27-02f4-4e7d-bc5f-59809f2cbfd0	99aa2435-d52d-45ef-a896-64a90cac0ad3	g.chr5:148679111G>T	ENST00000296721.4	+	2	154	c.56G>T	c.(55-57)aGc>aTc	p.S19I	AFAP1L1_ENST00000515000.1_Missense_Mutation_p.S19I|AFAP1L1_ENST00000522492.1_3'UTR	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	19						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)			GGGCTGCTCAGCCTCCTGGAC	0.642																																																0													67	64	65					5																	148679111		2203	4300	6503	SO:0001583	missense	134265			AK094067	CCDS34274.1, CCDS54932.1	5q33.1	2013-01-10			ENSG00000157510	ENSG00000157510		"Pleckstrin homology (PH) domain containing"	26714	protein-coding gene	gene with protein product		614410					Standard	NM_152406		Approved	FLJ36748	uc003lqh.3	Q8TED9	OTTHUMG00000163441	ENST00000296721.4:c.56G>T	chr5.hg19:g.148679111G>T	ENSP00000296721:p.Ser19Ile		Q08AN4|Q08AN5|Q8IW82|Q8N8Z5|Q8N9Q4	Missense_Mutation	SNP	ENST00000296721.4	hg19	CCDS34274.1	.	.	.	.	.	.	.	.	.	.	G	15.16	2.749690	0.49257	.	.	ENSG00000157510	ENST00000296721;ENST00000515000	T;T	0.44482	0.92;0.92	4.65	4.65	0.58169	.	0.103899	0.64402	D	0.000002	T	0.44767	0.1309	L	0.47716	1.5	0.30230	N	0.796004	D;P;D	0.59357	0.958;0.93;0.985	P;B;P	0.52217	0.563;0.36;0.693	T	0.50110	-0.8866	10	0.66056	D	0.02	-24.6898	9.2249	0.37400	0.1331:0.0:0.8669:0.0	.	19;19;19	Q8TED9-2;Q8TED9;Q8TED9-3	.;AF1L1_HUMAN;.	I	19	ENSP00000296721:S19I;ENSP00000424427:S19I	ENSP00000296721:S19I	S	+	2	0	AFAP1L1	148659304	1.000000	0.71417	1.000000	0.80357	0.579000	0.36224	4.592000	0.61027	2.563000	0.86464	0.563000	0.77884	AGC		0.642	AFAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373443.1	NM_152406		T	148679111	G	T	148679111	3	4	824	1	0	0	0	0	1	0	0	0	354	971	34	4	62	4	AFAP1L1	5	148679111	Missense_Mutation	SNP	G	TCGA-Y8-A8S1-01A-11D-A36X-10	73082444	148679111	32236149	22	49560											
HIST1H1B	3009	hgsc.bcm.edu	37	6	27834657	27834701	+	In_Frame_Del	DEL	CTTTGCAGCTTTAGGTTTTGCTGCTTTGGGCTTAGCGGCTTTGGG	CTTTGCAGCTTTAGGTTTTGCTGCTTTGGGCTTAGCGGCTTTGGG	-	rs370043286|rs34144478|rs201436001|rs557184683|rs535793643|rs200074459|rs373472194	byFrequency	TCGA-Y8-A8S1-01A-11D-A36X-10	TCGA-Y8-A8S1-10A-01D-A370-10	CTTTGCAGCTTTAGGTTTTGCTGCTTTGGGCTTAGCGGCTTTGGG	CTTTGCAGCTTTAGGTTTTGCTGCTTTGGGCTTAGCGGCTTTGGG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5c980b27-02f4-4e7d-bc5f-59809f2cbfd0	99aa2435-d52d-45ef-a896-64a90cac0ad3	g.chr6:27834657_27834701delCTTTGCAGCTTTAGGTTTTGCTGCTTTGGGCTTAGCGGCTTTGGG	ENST00000331442.3	-	1	658_702	c.607_651delCCCAAAGCCGCTAAGCCCAAAGCAGCAAAACCTAAAGCTGCAAAG	c.(607-651)cccaaagccgctaagcccaaagcagcaaaacctaaagctgcaaagdel	p.PKAAKPKAAKPKAAK203del		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	203					chromatin organization (GO:0006325)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|positive regulation of cell growth (GO:0030307)|positive regulation of histone H3-K9 methylation (GO:0051574)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)	p.K212K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						CCTTCTTGGCCTTTGCAGCTTTAGGTTTTGCTGCTTTGGGCTTAGCGGCTTTGGGCTTTGCCGCC	0.547																																																1	Substitution - coding silent(1)	large_intestine(1)																																								SO:0001651	inframe_deletion	3009			AF531304	CCDS4635.1	6p22.1	2012-05-04	2006-10-11	2003-02-14	ENSG00000184357	ENSG00000184357		"Histones / Replication-dependent"	4719	protein-coding gene	gene with protein product		142711	"H1 histone family, member 5", "histone 1, H1b"	H1F5		9031620, 9119399, 12408966	Standard	NM_005322		Approved	H1.5, H1b, H1s-3	uc003njx.3	P16401	OTTHUMG00000016139	ENST00000331442.3:c.607_651delCCCAAAGCCGCTAAGCCCAAAGCAGCAAAACCTAAAGCTGCAAAG	chr6.hg19:g.27834657_27834701delCTTTGCAGCTTTAGGTTTTGCTGCTTTGGGCTTAGCGGCTTTGGG	ENSP00000330074:p.Pro203_Lys217del		Q14529|Q3MJ42	In_Frame_Del	DEL	ENST00000331442.3	hg19	CCDS4635.1																																																																																				0.547	HIST1H1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043371.1	NM_005322		-	27834701	CTTTGCAGCTTTAGGTTTTGCTGCTTTGGGCTTAGCGGCTTTGGG	-	27834657	7	5	824	1	0	1	0	1	0	0	0	0	7125	680	24	0	33	0	HIST1H1B	6	27834657	In_Frame_Del	DEL	CTTTGCAGCTTTAGGTTTTGCTGCTTTGGGCTTAGCGGCTTTGGG	TCGA-Y8-A8S1-01A-11D-A36X-10		27834657	143280410	23	49561			1	138		2	2	45	N	G_CTTTGCAGCTTTAGGTTTTGCTGCTTTGGGCTTAGCGGCTTTGGG	7.67493e-05
HIST1H1B	3009	hgsc.bcm.edu	37	6	27834701	27834701	+	Missense_Mutation	SNP	G	G	C			TCGA-Y8-A8S1-01A-11D-A36X-10	TCGA-Y8-A8S1-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5c980b27-02f4-4e7d-bc5f-59809f2cbfd0	99aa2435-d52d-45ef-a896-64a90cac0ad3	g.chr6:27834701G>C	ENST00000331442.3	-	1	658	c.607C>G	c.(607-609)Ccc>Gcc	p.P203A		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	203					chromatin organization (GO:0006325)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|positive regulation of cell growth (GO:0030307)|positive regulation of histone H3-K9 methylation (GO:0051574)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						GCGGCTTTGGGCTTTGCCGCC	0.557																																																0													71	66	68					6																	27834701		2203	4300	6503	SO:0001583	missense	3009			AF531304	CCDS4635.1	6p22.1	2012-05-04	2006-10-11	2003-02-14	ENSG00000184357	ENSG00000184357		"Histones / Replication-dependent"	4719	protein-coding gene	gene with protein product		142711	"H1 histone family, member 5", "histone 1, H1b"	H1F5		9031620, 9119399, 12408966	Standard	NM_005322		Approved	H1.5, H1b, H1s-3	uc003njx.3	P16401	OTTHUMG00000016139	ENST00000331442.3:c.607C>G	chr6.hg19:g.27834701G>C	ENSP00000330074:p.Pro203Ala		Q14529|Q3MJ42	Missense_Mutation	SNP	ENST00000331442.3	hg19	CCDS4635.1	.	.	.	.	.	.	.	.	.	.	G	6.842	0.524661	0.13066	.	.	ENSG00000184357	ENST00000331442	T	0.16324	2.35	4.79	4.79	0.61399	.	0.398694	0.22302	N	0.061856	T	0.03305	0.0096	N	0.08118	0	0.53688	D	0.999977	B	0.20261	0.043	B	0.15870	0.014	T	0.34650	-0.9820	10	0.12103	T	0.63	-21.4378	14.0627	0.64810	0.0:0.0:1.0:0.0	.	203	P16401	H15_HUMAN	A	203	ENSP00000330074:P203A	ENSP00000330074:P203A	P	-	1	0	HIST1H1B	27942680	0.996000	0.38824	0.330000	0.25442	0.061000	0.15899	2.443000	0.44881	2.600000	0.87896	0.655000	0.94253	CCC		0.557	HIST1H1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043371.1	NM_005322		C	27834701	G	C	27834701	3	2	824	1	0	0	0	0	1	0	0	0	7125	1203	42	4	77	4	HIST1H1B	6	27834701	Missense_Mutation	SNP	G	TCGA-Y8-A8S1-01A-11D-A36X-10	44	27834701	143280366	24	49562			1	138		2	2	45	N	G_CTTTGCAGCTTTAGGTTTTGCTGCTTTGGGCTTAGCGGCTTTGGG	7.67493e-05
GABBR1	2550	hgsc.bcm.edu	37	6	29581105	29581105	+	Missense_Mutation	SNP	C	C	T	rs548511243		TCGA-Y8-A8S1-01A-11D-A36X-10	TCGA-Y8-A8S1-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5c980b27-02f4-4e7d-bc5f-59809f2cbfd0	99aa2435-d52d-45ef-a896-64a90cac0ad3	g.chr6:29581105C>T	ENST00000377034.4	-	12	1816	c.1481G>A	c.(1480-1482)cGc>cAc	p.R494H	GABBR1_ENST00000355973.3_Missense_Mutation_p.R377H|GABBR1_ENST00000377012.4_Missense_Mutation_p.R377H|GABBR1_ENST00000376977.3_Missense_Mutation_p.R494H|GABBR1_ENST00000377016.4_Missense_Mutation_p.R432H	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	494					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	GTCCTCCAGGCGCACACCAGA	0.552													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17554	0.0		0.0	False		,,,				2504	0.0															0													106	117	113					6																	29581105		1511	2708	4219	SO:0001583	missense	2550			Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"GABA receptors", "GPCR / Class C : GABA(B) receptors"	4070	protein-coding gene	gene with protein product	"GABA-B receptor"	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.1481G>A	chr6.hg19:g.29581105C>T	ENSP00000366233:p.Arg494His		B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Missense_Mutation	SNP	ENST00000377034.4	hg19	CCDS4663.1	.	.	.	.	.	.	.	.	.	.	C	17.19	3.325374	0.60743	.	.	ENSG00000204681	ENST00000355973;ENST00000376977;ENST00000377016;ENST00000377012;ENST00000377034	D;D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66;-1.66	5.84	5.84	0.93424	Extracellular ligand-binding receptor (1);	0.180709	0.49305	D	0.000155	T	0.67487	0.2898	N	0.25890	0.77	0.58432	D	0.999998	B;B;B;B	0.21147	0.052;0.008;0.005;0.009	B;B;B;B	0.13407	0.009;0.006;0.007;0.008	T	0.66304	-0.5957	10	0.62326	D	0.03	-27.9829	17.64	0.88133	0.0:1.0:0.0:0.0	.	494;432;494;377	Q9UBS5-5;Q9UBS5-3;Q9UBS5;Q5SUJ9	.;.;GABR1_HUMAN;.	H	377;494;432;377;494	ENSP00000348248:R377H;ENSP00000366176:R494H;ENSP00000366215:R432H;ENSP00000366211:R377H;ENSP00000366233:R494H	ENSP00000348248:R377H	R	-	2	0	GABBR1	29689084	1.000000	0.71417	1.000000	0.80357	0.721000	0.41392	7.421000	0.80204	2.769000	0.95229	0.655000	0.94253	CGC		0.552	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3			T	29581105	C	T	29581105	3	4	824	1	0	0	0	0	1	0	0	0	6157	768	27	1	1452	1	GABBR1	6	29581105	Missense_Mutation	SNP	C	TCGA-Y8-A8S1-01A-11D-A36X-10	1746404	29581105	141533962	25	49563											
B3GALT4	8705	hgsc.bcm.edu	37	6	33246172	33246172	+	Missense_Mutation	SNP	A	A	C			TCGA-Y8-A8S1-01A-11D-A36X-10	TCGA-Y8-A8S1-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5c980b27-02f4-4e7d-bc5f-59809f2cbfd0	99aa2435-d52d-45ef-a896-64a90cac0ad3	g.chr6:33246172A>C	ENST00000451237.1	+	1	1256	c.976A>C	c.(976-978)Aaa>Caa	p.K326Q		NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4	326					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ganglioside galactosyltransferase activity (GO:0047915)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						CTGCTATGGGAAATTCCTGCT	0.622																																																0													89	99	96					6																	33246172		2203	4300	6503	SO:0001583	missense	8705			Y15061	CCDS34425.1	6p21.3	2013-02-19			ENSG00000235863	ENSG00000235863		"Beta 3-glycosyltransferases"	919	protein-coding gene	gene with protein product		603095				9582303	Standard	NM_003782		Approved	beta3Gal-T4, GalT4	uc003odr.3	O96024	OTTHUMG00000031100	ENST00000451237.1:c.976A>C	chr6.hg19:g.33246172A>C	ENSP00000390784:p.Lys326Gln			Missense_Mutation	SNP	ENST00000451237.1	hg19	CCDS34425.1	.	.	.	.	.	.	.	.	.	.	A	12.41	1.929873	0.34096	.	.	ENSG00000235863	ENST00000451237	T	0.50277	0.75	4.29	4.29	0.51040	.	0.350727	0.27424	N	0.019440	T	0.17577	0.0422	N	0.19112	0.55	0.37795	D	0.927492	B	0.27498	0.18	B	0.21360	0.034	T	0.10042	-1.0647	10	0.54805	T	0.06	.	11.4597	0.50202	1.0:0.0:0.0:0.0	.	326	O96024	B3GT4_HUMAN	Q	326	ENSP00000390784:K326Q	ENSP00000390784:K326Q	K	+	1	0	B3GALT4	33354150	0.862000	0.29867	1.000000	0.80357	0.987000	0.75469	3.092000	0.50207	1.815000	0.52974	0.523000	0.50628	AAA		0.622	B3GALT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076162.2			C	33246172	A	C	33246172	3	2	824	1	0	0	0	0	1	0	0	0	1249	247	9	5	978	5	B3GALT4	6	33246172	Missense_Mutation	SNP	A	TCGA-Y8-A8S1-01A-11D-A36X-10	3665067	33246172	137868895	26	49564											
DNAH8	1769	hgsc.bcm.edu	37	6	38843576	38843576	+	Silent	SNP	C	C	A			TCGA-Y8-A8S1-01A-11D-A36X-10	TCGA-Y8-A8S1-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5c980b27-02f4-4e7d-bc5f-59809f2cbfd0	99aa2435-d52d-45ef-a896-64a90cac0ad3	g.chr6:38843576C>A	ENST00000359357.3	+	51	7433	c.7179C>A	c.(7177-7179)acC>acA	p.T2393T	DNAH8_ENST00000441566.1_Silent_p.T2357T|DNAH8_ENST00000449981.2_Silent_p.T2610T			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2393					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						CAAATCAAACCATGTATGAGT	0.353																																																0													89	89	89					6																	38843576		2203	4300	6503	SO:0001819	synonymous_variant	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.7179C>A	chr6.hg19:g.38843576C>A			O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	ENST00000359357.3	hg19																																																																																					0.353	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		A	38843576	C	A	38843576	2	1	824	1	0	0	0	0	0	0	0	1	4609	581	21	4		4	DNAH8	6	38843576	Silent	SNP	C	TCGA-Y8-A8S1-01A-11D-A36X-10	5597404	38843576	132271491	27	49565											
PKHD1	5314	hgsc.bcm.edu	37	6	51924822	51924822	+	Silent	SNP	G	G	A			TCGA-Y8-A8S1-01A-11D-A36X-10	TCGA-Y8-A8S1-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5c980b27-02f4-4e7d-bc5f-59809f2cbfd0	99aa2435-d52d-45ef-a896-64a90cac0ad3	g.chr6:51924822G>A	ENST00000371117.3	-	15	1412	c.1137C>T	c.(1135-1137)ttC>ttT	p.F379F	PKHD1_ENST00000340994.4_Silent_p.F379F|AL590391.1_ENST00000408630.2_RNA	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	379					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)					GAGCCACAAAGAACCCACTGA	0.443																																																0													84	76	79					6																	51924822		2203	4300	6503	SO:0001819	synonymous_variant	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.1137C>T	chr6.hg19:g.51924822G>A			Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	hg19	CCDS4935.1																																																																																				0.443	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		A	51924822	G	A	51924822	2	1	824	1	0	0	0	0	0	0	0	1	11973	933	33	2		2	PKHD1	6	51924822	Silent	SNP	G	TCGA-Y8-A8S1-01A-11D-A36X-10	13081246	51924822	119190245	28	49566											
UTRN	7402	hgsc.bcm.edu	37	6	144724303	144724303	+	Missense_Mutation	SNP	A	A	T			TCGA-Y8-A8S1-01A-11D-A36X-10	TCGA-Y8-A8S1-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5c980b27-02f4-4e7d-bc5f-59809f2cbfd0	99aa2435-d52d-45ef-a896-64a90cac0ad3	g.chr6:144724303A>T	ENST00000367545.3	+	2	124	c.124A>T	c.(124-126)Aat>Tat	p.N42Y		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	42	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				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)		CAAATGGATAAATGCTCGATT	0.373																																																0													79	76	77					6																	144724303		2202	4300	6502	SO:0001583	missense	7402			AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"utrophin (homologous to dystrophin)"	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.124A>T	chr6.hg19:g.144724303A>T	ENSP00000356515:p.Asn42Tyr		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	hg19	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	A	15.69	2.907745	0.52333	.	.	ENSG00000152818	ENST00000433557;ENST00000367529;ENST00000367545;ENST00000421035	D;D;D	0.98221	-4.8;-4.8;-4.8	5.48	5.48	0.80851	Actinin-type, actin-binding, conserved site (1);Calponin homology domain (5);	0.000000	0.53938	D	0.000052	D	0.99281	0.9749	H	0.96111	3.77	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.98886	1.0771	10	0.87932	D	0	.	14.8543	0.70323	1.0:0.0:0.0:0.0	.	42	P46939	UTRO_HUMAN	Y	42;42;42;47	ENSP00000390879:N42Y;ENSP00000356515:N42Y;ENSP00000396276:N47Y	ENSP00000356499:N42Y	N	+	1	0	UTRN	144765996	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.728000	0.74769	2.204000	0.70986	0.528000	0.53228	AAT		0.373	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			T	144724303	A	T	144724303	3	4	824	1	0	0	0	0	1	0	0	0	17108	14	1	5	130	5	UTRN	6	144724303	Missense_Mutation	SNP	A	TCGA-Y8-A8S1-01A-11D-A36X-10	92799481	144724303	26390764	29	49567											
GRM1	2911	hgsc.bcm.edu	37	6	146678763	146678763	+	Missense_Mutation	SNP	T	T	C			TCGA-Y8-A8S1-01A-11D-A36X-10	TCGA-Y8-A8S1-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5c980b27-02f4-4e7d-bc5f-59809f2cbfd0	99aa2435-d52d-45ef-a896-64a90cac0ad3	g.chr6:146678763T>C	ENST00000282753.1	+	5	1770	c.1535T>C	c.(1534-1536)aTc>aCc	p.I512T	GRM1_ENST00000507907.1_Missense_Mutation_p.I512T|GRM1_ENST00000361719.2_Missense_Mutation_p.I512T|GRM1_ENST00000355289.4_Missense_Mutation_p.I512T|GRM1_ENST00000492807.2_Missense_Mutation_p.I512T|GRM1_ENST00000392299.2_Missense_Mutation_p.I512T			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	512					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)		GATTACAAAATCCAGATGAAC	0.443																																																0													175	139	152					6																	146678763		2203	4300	6503	SO:0001583	missense	2911			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.1535T>C	chr6.hg19:g.146678763T>C	ENSP00000282753:p.Ile512Thr		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	hg19	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	T	17.85	3.490489	0.64074	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.90788	-2.69;-2.72;-2.72;-2.69;-2.73;-2.72	5.48	5.48	0.80851	.	0.044050	0.85682	D	0.000000	D	0.87601	0.6218	M	0.62723	1.935	0.80722	D	1	P;P;P	0.40144	0.552;0.704;0.696	B;B;B	0.41666	0.133;0.272;0.363	D	0.89914	0.4054	10	0.87932	D	0	.	15.57	0.76326	0.0:0.0:0.0:1.0	.	512;512;512	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	T	512	ENSP00000354896:I512T;ENSP00000376119:I512T;ENSP00000424095:I512T;ENSP00000282753:I512T;ENSP00000347437:I512T;ENSP00000425599:I512T	ENSP00000282753:I512T	I	+	2	0	GRM1	146720456	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.671000	0.83941	2.081000	0.62600	0.533000	0.62120	ATC		0.443	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		C	146678763	T	C	146678763	3	2	824	1	0	0	0	0	1	0	0	0	6798	1435	50	3	1553	3	GRM1	6	146678763	Missense_Mutation	SNP	T	TCGA-Y8-A8S1-01A-11D-A36X-10	1954460	146678763	24436304	30	49568											
ZKSCAN1	7586	hgsc.bcm.edu	37	7	99631136	99631136	+	Missense_Mutation	SNP	G	G	T			TCGA-Y8-A8S1-01A-11D-A36X-10	TCGA-Y8-A8S1-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5c980b27-02f4-4e7d-bc5f-59809f2cbfd0	99aa2435-d52d-45ef-a896-64a90cac0ad3	g.chr7:99631136G>T	ENST00000324306.6	+	6	1242	c.1008G>T	c.(1006-1008)aaG>aaT	p.K336N	ZKSCAN1_ENST00000535170.1_Missense_Mutation_p.K123N|ZKSCAN1_ENST00000426572.1_Missense_Mutation_p.K300N	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1	336					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)			CTATAGGAAAGGACAAAAAAA	0.483																																																0													76	83	81					7																	99631136		2203	4300	6503	SO:0001583	missense	7586			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.1008G>T	chr7.hg19:g.99631136G>T	ENSP00000323148:p.Lys336Asn		A4D294|P52745|Q2M1U1|Q8TBW5|Q8TEK7	Missense_Mutation	SNP	ENST00000324306.6	hg19	CCDS34698.1	.	.	.	.	.	.	.	.	.	.	G	9.281	1.048151	0.19827	.	.	ENSG00000106261	ENST00000324306;ENST00000426572;ENST00000535170	T;T;T	0.07444	3.27;3.24;3.19	5.18	2.25	0.28309	.	0.208078	0.34133	N	0.004225	T	0.04724	0.0128	N	0.24115	0.695	0.09310	N	0.999992	B	0.02656	0.0	B	0.01281	0.0	T	0.38779	-0.9645	10	0.23891	T	0.37	.	5.162	0.15066	0.1671:0.1743:0.6585:0.0	.	336	P17029	ZKSC1_HUMAN	N	336;300;123	ENSP00000323148:K336N;ENSP00000409172:K300N;ENSP00000443508:K123N	ENSP00000323148:K336N	K	+	3	2	ZKSCAN1	99469072	0.025000	0.19082	0.922000	0.36590	0.034000	0.12701	0.823000	0.27366	0.898000	0.36418	0.557000	0.71058	AAG		0.483	ZKSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344550.2	NM_003439		T	99631136	G	T	99631136	3	4	824	1	0	0	0	0	1	0	0	0	17691	991	35	4	1026	4	ZKSCAN1	7	99631136	Missense_Mutation	SNP	G	TCGA-Y8-A8S1-01A-11D-A36X-10		99631136	59507527	31	49569											
ARMC10	83787	hgsc.bcm.edu	37	7	102738803	102738803	+	Nonsense_Mutation	SNP	C	C	T			TCGA-Y8-A8S1-01A-11D-A36X-10	TCGA-Y8-A8S1-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5c980b27-02f4-4e7d-bc5f-59809f2cbfd0	99aa2435-d52d-45ef-a896-64a90cac0ad3	g.chr7:102738803C>T	ENST00000323716.3	+	7	1227	c.835C>T	c.(835-837)Cga>Tga	p.R279*	ARMC10_ENST00000541300.1_Nonsense_Mutation_p.R161*|ARMC10_ENST00000441711.2_Nonsense_Mutation_p.R244*|ARMC10_ENST00000425331.1_Nonsense_Mutation_p.R220*|ARMC10_ENST00000454559.1_Nonsense_Mutation_p.R185*|ARMC10_ENST00000428183.2_Nonsense_Mutation_p.R220*	NM_031905.4	NP_114111.2	Q8N2F6	ARM10_HUMAN	armadillo repeat containing 10	279					regulation of growth (GO:0040008)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.R279*(2)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	11						GATTCTTCTTCGAGTACTTAC	0.343																																																2	Substitution - Nonsense(2)	NS(1)|breast(1)											73	65	67					7																	102738803		2203	4300	6503	SO:0001587	stop_gained	83787			AY150853	CCDS5728.1, CCDS55145.1, CCDS55146.1, CCDS55147.1, CCDS55148.1, CCDS55149.1	7q22.1	2013-02-14			ENSG00000170632	ENSG00000170632		"Armadillo repeat containing"	21706	protein-coding gene	gene with protein product	"specific Splicing Variant involved in Hepatocarcinogenesis"	611864				12839973	Standard	NM_031905		Approved	MGC3195, SVH	uc003vaw.2	Q8N2F6	OTTHUMG00000157201	ENST00000323716.3:c.835C>T	chr7.hg19:g.102738803C>T	ENSP00000319412:p.Arg279*		A8K703|B4DWJ8|F5GX65|Q75K91|Q75MG6|Q75ML8|Q8IZC1|Q8IZC2|Q8IZC3|Q9BTM6	Nonsense_Mutation	SNP	ENST00000323716.3	hg19	CCDS5728.1	.	.	.	.	.	.	.	.	.	.	C	38	7.008041	0.97998	.	.	ENSG00000170632	ENST00000323716;ENST00000428183;ENST00000441711;ENST00000454559;ENST00000425331;ENST00000541300;ENST00000434153;ENST00000431642	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.7948	11.9574	0.52988	0.2764:0.7236:0.0:0.0	.	.	.	.	X	279;220;244;185;220;161;207;121	.	ENSP00000319412:R279X	R	+	1	2	ARMC10	102526039	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	0.632000	0.24583	2.709000	0.92574	0.591000	0.81541	CGA		0.343	ARMC10-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347882.1	NM_031905		T	102738803	C	T	102738803	4	4	824	1	0	0	0	0	0	1	0	0	950	876	31	1	861	1	ARMC10	7	102738803	Nonsense_Mutation	SNP	C	TCGA-Y8-A8S1-01A-11D-A36X-10	3107667	102738803	56399860	32	49570											
RBM33	155435	hgsc.bcm.edu	37	7	155473562	155473562	+	Missense_Mutation	SNP	T	T	A			TCGA-Y8-A8S1-01A-11D-A36X-10	TCGA-Y8-A8S1-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5c980b27-02f4-4e7d-bc5f-59809f2cbfd0	99aa2435-d52d-45ef-a896-64a90cac0ad3	g.chr7:155473562T>A	ENST00000401878.3	+	5	725	c.527T>A	c.(526-528)gTg>gAg	p.V176E	RBM33_ENST00000392759.3_Missense_Mutation_p.V176E|RBM33_ENST00000287912.3_Missense_Mutation_p.V176E	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	176	Glu-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)		ACTGATGAAGTGTTAGACATC	0.433																																																0													97	95	96					7																	155473562		1960	4156	6116	SO:0001583	missense	155435			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.527T>A	chr7.hg19:g.155473562T>A	ENSP00000384160:p.Val176Glu		A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Missense_Mutation	SNP	ENST00000401878.3	hg19	CCDS5941.2	.	.	.	.	.	.	.	.	.	.	T	21.8	4.197992	0.79015	.	.	ENSG00000184863	ENST00000287912;ENST00000401878;ENST00000392759;ENST00000440108	T;T;T;T	0.33216	1.42;1.42;1.42;1.42	5.35	5.35	0.76521	.	.	.	.	.	T	0.50582	0.1624	L	0.52573	1.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.52697	-0.8541	9	0.87932	D	0	.	15.3587	0.74453	0.0:0.0:0.0:1.0	.	176;176	Q96EV2;Q96EV2-2	RBM33_HUMAN;.	E	176;176;176;67	ENSP00000287912:V176E;ENSP00000384160:V176E;ENSP00000376513:V176E;ENSP00000394987:V67E	ENSP00000287912:V176E	V	+	2	0	RBM33	155166323	1.000000	0.71417	0.998000	0.56505	0.951000	0.60555	5.466000	0.66731	2.029000	0.59856	0.460000	0.39030	GTG		0.433	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317225.3	NM_001008408		A	155473562	T	A	155473562	3	1	824	1	0	0	0	0	1	0	0	0	13136	1696	59	5	545	5	RBM33	7	155473562	Missense_Mutation	SNP	T	TCGA-Y8-A8S1-01A-11D-A36X-10	52734759	155473562	3665101	33	49571											
TEX15	56154	hgsc.bcm.edu	37	8	30700777	30700777	+	Silent	SNP	T	T	C			TCGA-Y8-A8S1-01A-11D-A36X-10	TCGA-Y8-A8S1-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5c980b27-02f4-4e7d-bc5f-59809f2cbfd0	99aa2435-d52d-45ef-a896-64a90cac0ad3	g.chr8:30700777T>C	ENST00000256246.2	-	1	5831	c.5757A>G	c.(5755-5757)agA>agG	p.R1919R		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1919					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)		ATTTATTCACTCTGAGTAGCC	0.343																																																0													110	105	107					8																	30700777		2202	4299	6501	SO:0001819	synonymous_variant	56154			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"cancer/testis antigen 42"	605795	"testis expressed sequence 15"			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.5757A>G	chr8.hg19:g.30700777T>C				Silent	SNP	ENST00000256246.2	hg19	CCDS6080.1																																																																																				0.343	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			C	30700777	T	C	30700777	2	2	824	1	0	0	0	0	0	0	0	1	15784	1548	54	3		3	TEX15	8	30700777	Silent	SNP	T	TCGA-Y8-A8S1-01A-11D-A36X-10		30700777	115663245	34	49572											
STMN2	11075	hgsc.bcm.edu	37	8	80567258	80567258	+	Silent	SNP	G	G	A			TCGA-Y8-A8S1-01A-11D-A36X-10	TCGA-Y8-A8S1-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5c980b27-02f4-4e7d-bc5f-59809f2cbfd0	99aa2435-d52d-45ef-a896-64a90cac0ad3	g.chr8:80567258G>A	ENST00000220876.7	+	4	823	c.441G>A	c.(439-441)gaG>gaA	p.E147E	STMN2_ENST00000518491.1_Silent_p.E136E|STMN2_ENST00000518111.1_Silent_p.E147E	NM_001199214.1|NM_007029.3	NP_001186143.1|NP_008960.2	Q93045	STMN2_HUMAN	stathmin 2	147	SLD. {ECO:0000255|PROSITE- ProRule:PRU00998}.				cellular response to nerve growth factor stimulus (GO:1990090)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of neuron projection development (GO:0010977)|positive regulation of microtubule depolymerization (GO:0031117)|positive regulation of neuron projection development (GO:0010976)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	calcium-dependent protein binding (GO:0048306)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11	all_lung(9;8.34e-05)		Epithelial(68;0.0229)|all cancers(69;0.0874)			AAAACCGTGAGGCTAATCTAG	0.443																																																0													89	82	84					8																	80567258		1917	4125	6042	SO:0001819	synonymous_variant	11075				CCDS43748.1, CCDS56542.1	8q21.13	2014-04-01	2014-04-01	2001-07-13	ENSG00000104435	ENSG00000104435			10577	protein-coding gene	gene with protein product		600621	"stathmin-like 2"	SCGN10		8622778, 12140291	Standard	NM_007029		Approved	SCG10	uc022awk.1	Q93045	OTTHUMG00000164610	ENST00000220876.7:c.441G>A	chr8.hg19:g.80567258G>A			A8K9M2|G3V110|O14952|Q6PK68	Silent	SNP	ENST00000220876.7	hg19	CCDS43748.1																																																																																				0.443	STMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379261.2	NM_007029		A	80567258	G	A	80567258	2	1	824	1	0	0	0	0	0	0	0	1	15314	991	35	2		2	STMN2	8	80567258	Silent	SNP	G	TCGA-Y8-A8S1-01A-11D-A36X-10	49866481	80567258	65796764	35	49573											
DOCK8	81704	hgsc.bcm.edu	37	9	441400	441400	+	Missense_Mutation	SNP	G	G	T			TCGA-Y8-A8S1-01A-11D-A36X-10	TCGA-Y8-A8S1-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5c980b27-02f4-4e7d-bc5f-59809f2cbfd0	99aa2435-d52d-45ef-a896-64a90cac0ad3	g.chr9:441400G>T	ENST00000453981.1	+	41	5450	c.5338G>T	c.(5338-5340)Gac>Tac	p.D1780Y	DOCK8_ENST00000382329.1_Missense_Mutation_p.D1247Y|DOCK8_ENST00000469391.1_Missense_Mutation_p.D1680Y|DOCK8_ENST00000432829.2_Missense_Mutation_p.D1712Y			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1780	DHR-2.				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)		GAGAGCCTTCGACAGCATCGT	0.552																																																0													75	70	72					9																	441400		2203	4300	6503	SO:0001583	missense	81704			AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.5338G>T	chr9.hg19:g.441400G>T	ENSP00000408464:p.Asp1780Tyr		A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	hg19	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	G	13.41	2.228460	0.39399	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382329	T;T;T;T	0.17213	2.51;2.51;2.51;2.29	5.36	5.36	0.76844	.	0.046369	0.85682	D	0.000000	T	0.27629	0.0679	M	0.64997	1.995	0.80722	D	1	P;P;P	0.38642	0.641;0.641;0.641	B;B;B	0.42062	0.374;0.374;0.374	T	0.02320	-1.1177	10	0.72032	D	0.01	.	19.2822	0.94055	0.0:0.0:1.0:0.0	.	1680;1247;1780	E9PH09;A2A369;Q8NF50	.;.;DOCK8_HUMAN	Y	1780;1748;1712;1680;1247	ENSP00000408464:D1780Y;ENSP00000394888:D1712Y;ENSP00000419438:D1680Y;ENSP00000371766:D1247Y	ENSP00000287364:D1748Y	D	+	1	0	DOCK8	431400	1.000000	0.71417	0.974000	0.42286	0.031000	0.12232	5.138000	0.64795	2.763000	0.94921	0.655000	0.94253	GAC		0.552	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		T	441400	G	T	441400	3	4	824	1	0	0	0	0	1	0	0	0	4695	1058	37	4	5500	4	DOCK8	9	441400	Missense_Mutation	SNP	G	TCGA-Y8-A8S1-01A-11D-A36X-10		441400	140772031	36	49574											
TPD52L3	89882	hgsc.bcm.edu	37	9	6328657	6328657	+	Missense_Mutation	SNP	T	T	C			TCGA-Y8-A8S1-01A-11D-A36X-10	TCGA-Y8-A8S1-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5c980b27-02f4-4e7d-bc5f-59809f2cbfd0	99aa2435-d52d-45ef-a896-64a90cac0ad3	g.chr9:6328657T>C	ENST00000344545.5	+	1	309	c.62T>C	c.(61-63)cTg>cCg	p.L21P	TPD52L3_ENST00000381428.1_Missense_Mutation_p.L21P|TPD52L3_ENST00000314556.3_Missense_Mutation_p.L21P	NM_033516.5	NP_277051	Q96J77	TPD55_HUMAN	tumor protein D52-like 3	21										large_intestine(1)|lung(9)|skin(1)	11		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1)		ACTTCTGAACTGGAGGATCTG	0.498																																																0													88	89	88					9																	6328657		2203	4300	6503	SO:0001583	missense	89882			AY032877	CCDS34984.1, CCDS34985.1, CCDS34986.1	9p24.1	2008-02-05			ENSG00000170777	ENSG00000170777			23382	protein-coding gene	gene with protein product							Standard	NM_033516		Approved	NYD-SP25	uc003zjw.3	Q96J77	OTTHUMG00000019518	ENST00000344545.5:c.62T>C	chr9.hg19:g.6328657T>C	ENSP00000341677:p.Leu21Pro		Q5TCR3|Q5TCR4|Q5TCR5|Q8N4P5|Q8WWF7|Q96M09	Missense_Mutation	SNP	ENST00000344545.5	hg19	CCDS34986.1	.	.	.	.	.	.	.	.	.	.	T	5.474	0.272581	0.10349	.	.	ENSG00000170777	ENST00000344545;ENST00000381428;ENST00000314556	T;T;T	0.32515	1.47;1.46;1.45	4.74	0.688	0.18027	.	0.637913	0.15109	N	0.280044	T	0.09024	0.0223	N	0.01473	-0.845	0.09310	N	0.999999	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.26503	-1.0101	10	0.28530	T	0.3	-0.4477	3.543	0.07818	0.175:0.5355:0.0:0.2896	.	21;21;21	Q96J77-2;Q96J77;Q96J77-3	.;TPD55_HUMAN;.	P	21	ENSP00000341677:L21P;ENSP00000370836:L21P;ENSP00000318665:L21P	ENSP00000318665:L21P	L	+	2	0	TPD52L3	6318657	0.000000	0.05858	0.000000	0.03702	0.071000	0.16799	-0.248000	0.08854	0.033000	0.15463	-0.385000	0.06624	CTG		0.498	TPD52L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051658.1	NM_033516		C	6328657	T	C	6328657	3	2	824	1	0	0	0	0	1	0	0	0	16405	1580	55	3	64	3	TPD52L3	9	6328657	Missense_Mutation	SNP	T	TCGA-Y8-A8S1-01A-11D-A36X-10	5887257	6328657	134884774	37	49575											
ZNF503	84858	hgsc.bcm.edu	37	10	77161118	77161118	+	Silent	SNP	G	G	T	rs540164655	byFrequency	TCGA-Y8-A8S1-01A-11D-A36X-10	TCGA-Y8-A8S1-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5c980b27-02f4-4e7d-bc5f-59809f2cbfd0	99aa2435-d52d-45ef-a896-64a90cac0ad3	g.chr10:77161118G>T	ENST00000372524.4	-	1	546	c.60C>A	c.(58-60)ggC>ggA	p.G20G	ZNF503-AS2_ENST00000425916.3_RNA|RP11-399K21.11_ENST00000418818.2_lincRNA|ZNF503_ENST00000535216.1_Silent_p.G20G|ZNF503-AS2_ENST00000466942.2_RNA|ZNF503-AS2_ENST00000486015.1_RNA	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN	zinc finger protein 503	20	Gly-rich.				G1 to G0 transition involved in cell differentiation (GO:0070315)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|neural precursor cell proliferation (GO:0061351)|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)			lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					cgcctccgccgccgccgccgc	0.736													G|||	57	0.0113818	0.003	0.0202	5008	,	,		9151	0.0		0.0338	False		,,,				2504	0.0051															0													1	2	2					10																	77161118		1017	2414	3431	SO:0001819	synonymous_variant	84858			AK127647	CCDS7350.1	10q22.3	2011-02-09			ENSG00000165655	ENSG00000165655		"Zinc fingers, C2H2-type"	23589	protein-coding gene	gene with protein product		613902				12477932	Standard	NM_032772		Approved	FLJ45745, MGC2555	uc001jxg.3	Q96F45	OTTHUMG00000018526	ENST00000372524.4:c.60C>A	chr10.hg19:g.77161118G>T			Q8NAC5|Q96E25|Q96IJ0	Silent	SNP	ENST00000372524.4	hg19	CCDS7350.1																																																																																				0.736	ZNF503-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048826.1	NM_032772		T	77161118	G	T	77161118	2	4	824	1	0	0	0	0	0	0	0	1	17956	1074	38	4		4	ZNF503	10	77161118	Silent	SNP	G	TCGA-Y8-A8S1-01A-11D-A36X-10		77161118	58373629	38	49576	533	2									
ZNF503	84858	hgsc.bcm.edu	37	10	77161124	77161124	+	Silent	SNP	G	G	T	rs576950953	byFrequency	TCGA-Y8-A8S1-01A-11D-A36X-10	TCGA-Y8-A8S1-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5c980b27-02f4-4e7d-bc5f-59809f2cbfd0	99aa2435-d52d-45ef-a896-64a90cac0ad3	g.chr10:77161124G>T	ENST00000372524.4	-	1	540	c.54C>A	c.(52-54)ggC>ggA	p.G18G	ZNF503-AS2_ENST00000425916.3_RNA|RP11-399K21.11_ENST00000418818.2_lincRNA|ZNF503_ENST00000535216.1_Silent_p.G18G|ZNF503-AS2_ENST00000466942.2_RNA|ZNF503-AS2_ENST00000486015.1_RNA	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN	zinc finger protein 503	18	Gly-rich.				G1 to G0 transition involved in cell differentiation (GO:0070315)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|neural precursor cell proliferation (GO:0061351)|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)			lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					cgccgccgccgccgccgcTGT	0.741													G|||	56	0.0111821	0.003	0.0202	5008	,	,		9831	0.0		0.0328	False		,,,				2504	0.0051															0													1	2	2					10																	77161124		963	2340	3303	SO:0001819	synonymous_variant	84858			AK127647	CCDS7350.1	10q22.3	2011-02-09			ENSG00000165655	ENSG00000165655		"Zinc fingers, C2H2-type"	23589	protein-coding gene	gene with protein product		613902				12477932	Standard	NM_032772		Approved	FLJ45745, MGC2555	uc001jxg.3	Q96F45	OTTHUMG00000018526	ENST00000372524.4:c.54C>A	chr10.hg19:g.77161124G>T			Q8NAC5|Q96E25|Q96IJ0	Silent	SNP	ENST00000372524.4	hg19	CCDS7350.1																																																																																				0.741	ZNF503-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048826.1	NM_032772		T	77161124	G	T	77161124	2	4	824	1	0	0	0	0	0	0	0	1	17956	1074	38	4		4	ZNF503	10	77161124	Silent	SNP	G	TCGA-Y8-A8S1-01A-11D-A36X-10	6	77161124	58373623	39	49577	533	2									
MUC5B	727897	hgsc.bcm.edu	37	11	1248326	1248326	+	Missense_Mutation	SNP	G	G	C			TCGA-Y8-A8S1-01A-11D-A36X-10	TCGA-Y8-A8S1-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5c980b27-02f4-4e7d-bc5f-59809f2cbfd0	99aa2435-d52d-45ef-a896-64a90cac0ad3	g.chr11:1248326G>C	ENST00000529681.1	+	5	585	c.527G>C	c.(526-528)aGc>aCc	p.S176T	MUC5B_ENST00000447027.1_Missense_Mutation_p.S176T	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	176	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)		ATCAAGGTCAGCATCCGGCTG	0.667																																																0													32	38	36					11																	1248326		2027	4156	6183	SO:0001583	missense	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.527G>C	chr11.hg19:g.1248326G>C	ENSP00000436812:p.Ser176Thr		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	hg19	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	2.178	-0.388258	0.04932	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.58940	0.3;0.3	3.73	-4.11	0.03928	von Willebrand factor, type D domain (3);	.	.	.	.	T	0.33059	0.0850	N	0.16743	0.435	0.09310	N	1	B;B;B	0.21905	0.001;0.062;0.062	B;B;B	0.23716	0.003;0.048;0.048	T	0.30621	-0.9972	9	0.87932	D	0	.	1.502	0.02478	0.2543:0.2611:0.3281:0.1565	.	176;832;176	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	T	176;176;176;209	ENSP00000436812:S176T;ENSP00000415793:S176T	ENSP00000343037:S176T	S	+	2	0	MUC5B	1204902	0.000000	0.05858	0.001000	0.08648	0.059000	0.15707	-0.700000	0.05081	-0.380000	0.07894	0.455000	0.32223	AGC		0.667	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		C	1248326	G	C	1248326	3	2	824	1	0	0	0	0	1	0	0	0	9981	971	34	4	545	4	MUC5B	11	1248326	Missense_Mutation	SNP	G	TCGA-Y8-A8S1-01A-11D-A36X-10		1248326	133758190	40	49578											
UBQLN3	50613	hgsc.bcm.edu	37	11	5530266	5530266	+	Missense_Mutation	SNP	G	G	T			TCGA-Y8-A8S1-01A-11D-A36X-10	TCGA-Y8-A8S1-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5c980b27-02f4-4e7d-bc5f-59809f2cbfd0	99aa2435-d52d-45ef-a896-64a90cac0ad3	g.chr11:5530266G>T	ENST00000311659.4	-	2	670	c.523C>A	c.(523-525)Ccc>Acc	p.P175T	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	175										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGATGAAGGGGTCATCAATG	0.572																																					Ovarian(72;684 1260 12332 41642 52180)											0													70	68	68					11																	5530266		2201	4297	6498	SO:0001583	missense	50613			AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"Ubiquilin family"	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.523C>A	chr11.hg19:g.5530266G>T	ENSP00000347997:p.Pro175Thr		Q9NRE0	Missense_Mutation	SNP	ENST00000311659.4	hg19	CCDS7758.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.477515	0.63849	.	.	ENSG00000175520	ENST00000311659;ENST00000445998	T;T	0.64618	0.34;-0.11	5.55	4.64	0.57946	.	0.298944	0.24215	N	0.040491	D	0.82935	0.5145	M	0.93638	3.44	0.58432	D	0.99999	D	0.58268	0.982	D	0.65010	0.931	D	0.87659	0.2533	10	0.87932	D	0	-9.5212	14.6678	0.68921	0.0:0.1462:0.8538:0.0	.	175	Q9H347	UBQL3_HUMAN	T	175	ENSP00000347997:P175T;ENSP00000412561:P175T	ENSP00000347997:P175T	P	-	1	0	UBQLN3	5486842	1.000000	0.71417	0.994000	0.49952	0.990000	0.78478	1.901000	0.39838	1.479000	0.48272	0.585000	0.79938	CCC		0.572	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481		T	5530266	G	T	5530266	3	4	824	1	0	0	0	0	1	0	0	0	16903	1232	43	4	1448	4	UBQLN3	11	5530266	Missense_Mutation	SNP	G	TCGA-Y8-A8S1-01A-11D-A36X-10	4281940	5530266	129476250	41	49579											
ATXN2	6311	hgsc.bcm.edu	37	12	111991980	111991980	+	Missense_Mutation	SNP	A	A	T			TCGA-Y8-A8S1-01A-11D-A36X-10	TCGA-Y8-A8S1-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5c980b27-02f4-4e7d-bc5f-59809f2cbfd0	99aa2435-d52d-45ef-a896-64a90cac0ad3	g.chr12:111991980A>T	ENST00000377617.3	-	3	971	c.810T>A	c.(808-810)caT>caA	p.H270Q	ATXN2_ENST00000535949.1_Missense_Mutation_p.H5Q|ATXN2_ENST00000549455.1_Intron|ATXN2_ENST00000608853.1_Missense_Mutation_p.H110Q|ATXN2_ENST00000389153.4_Missense_Mutation_p.H5Q|ATXN2_ENST00000542287.2_Missense_Mutation_p.H5Q|ATXN2_ENST00000550104.1_Missense_Mutation_p.H270Q	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	270					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						ATGTAAGTATATGAACCATCC	0.284																																																0													48	44	45					12																	111991980		2190	4281	6471	SO:0001583	missense	6311			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.810T>A	chr12.hg19:g.111991980A>T	ENSP00000366843:p.His270Gln		A6NLD4|Q6ZQZ7|Q99493	Missense_Mutation	SNP	ENST00000377617.3	hg19	CCDS31902.1	.	.	.	.	.	.	.	.	.	.	A	15.02	2.708827	0.48517	.	.	ENSG00000204842	ENST00000389153;ENST00000377617;ENST00000550104;ENST00000542287;ENST00000535949	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	5.34	4.19	0.49359	Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.000000	0.85682	D	0.000000	T	0.61800	0.2376	M	0.81802	2.56	0.58432	D	0.999998	D;D;D;D	0.76494	0.997;0.999;0.997;0.999	D;D;D;D	0.83275	0.995;0.996;0.995;0.994	T	0.62353	-0.6872	10	0.59425	D	0.04	-12.6924	7.364	0.26762	0.7784:0.0:0.2216:0.0	.	5;270;5;5	B3KT59;Q99700;Q24JQ7;F8VQP2	.;ATX2_HUMAN;.;.	Q	5;270;270;5;5	ENSP00000373805:H5Q;ENSP00000366843:H270Q;ENSP00000446576:H270Q;ENSP00000445583:H5Q	ENSP00000366843:H270Q	H	-	3	2	ATXN2	110476363	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	2.844000	0.48246	0.877000	0.35895	0.260000	0.18958	CAT		0.284	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257351.3	NM_002973		T	111991980	A	T	111991980	3	4	824	1	0	0	0	0	1	0	0	0	1211	446	16	5	3223	5	ATXN2	12	111991980	Missense_Mutation	SNP	A	TCGA-Y8-A8S1-01A-11D-A36X-10		111991980	21859915	42	49580											
SBNO1	55206	hgsc.bcm.edu	37	12	123829975	123829975	+	Missense_Mutation	SNP	G	G	A			TCGA-Y8-A8S1-01A-11D-A36X-10	TCGA-Y8-A8S1-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5c980b27-02f4-4e7d-bc5f-59809f2cbfd0	99aa2435-d52d-45ef-a896-64a90cac0ad3	g.chr12:123829975G>A	ENST00000602398.1	-	4	507	c.380C>T	c.(379-381)aCt>aTt	p.T127I	SBNO1_ENST00000602750.1_Missense_Mutation_p.T126I|SBNO1_ENST00000420886.2_Missense_Mutation_p.T127I|SBNO1_ENST00000267176.4_Missense_Mutation_p.T126I			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	127					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TGTGCTTGCAGTAGTCTGGAT	0.423																																																0													287	243	258					12																	123829975		2203	4300	6503	SO:0001583	missense	55206			AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"sno, strawberry notch homolog 1 (Drosophila)"				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.380C>T	chr12.hg19:g.123829975G>A	ENSP00000473665:p.Thr127Ile		Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	ENST00000602398.1	hg19	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.599804	0.46318	.	.	ENSG00000139697	ENST00000420886;ENST00000267176;ENST00000442601	T;T	0.30981	1.52;1.51	5.74	4.83	0.62350	.	0.337294	0.31721	N	0.007176	T	0.16599	0.0399	N	0.08118	0	0.26828	N	0.968658	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.10222	-1.0639	10	0.38643	T	0.18	-21.286	12.2817	0.54767	0.0:0.3068:0.6932:0.0	.	127;126;125	A3KN83;A3KN83-2;A3KN83-3	SBNO1_HUMAN;.;.	I	127;126;126	ENSP00000387361:T127I;ENSP00000267176:T126I	ENSP00000267176:T126I	T	-	2	0	SBNO1	122395928	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	1.471000	0.35365	2.715000	0.92844	0.655000	0.94253	ACT		0.423	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		A	123829975	G	A	123829975	3	1	824	1	0	0	0	0	1	0	0	0	13868	1029	36	2	3917	2	SBNO1	12	123829975	Missense_Mutation	SNP	G	TCGA-Y8-A8S1-01A-11D-A36X-10	11837995	123829975	10021920	43	49581											
NBEA	26960	hgsc.bcm.edu	37	13	35738623	35738623	+	Missense_Mutation	SNP	C	C	A			TCGA-Y8-A8S1-01A-11D-A36X-10	TCGA-Y8-A8S1-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5c980b27-02f4-4e7d-bc5f-59809f2cbfd0	99aa2435-d52d-45ef-a896-64a90cac0ad3	g.chr13:35738623C>A	ENST00000400445.3	+	24	4744	c.4210C>A	c.(4210-4212)Ctc>Atc	p.L1404I	NBEA_ENST00000379939.2_Missense_Mutation_p.L1404I|NBEA_ENST00000540320.1_Missense_Mutation_p.L1404I|NBEA_ENST00000310336.4_Missense_Mutation_p.L1404I	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1404					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)		TTTACCTTTGCTCTCTGCTGC	0.353																																																0													154	143	147					13																	35738623		1929	4159	6088	SO:0001583	missense	26960			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.4210C>A	chr13.hg19:g.35738623C>A	ENSP00000383295:p.Leu1404Ile		B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	hg19	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.624892	0.66901	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518	T;T;T;T	0.71461	-0.56;-0.57;-0.57;-0.56	5.51	4.65	0.58169	.	0.000000	0.64402	D	0.000001	T	0.81418	0.4818	M	0.77616	2.38	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.79108	0.991;0.992	T	0.81686	-0.0820	10	0.56958	D	0.05	.	8.7366	0.34532	0.0:0.7864:0.0:0.2136	.	1404;1404	Q8NFP9;Q5T321	NBEA_HUMAN;.	I	1404;1404;1404;1404;66	ENSP00000440951:L1404I;ENSP00000383295:L1404I;ENSP00000369271:L1404I;ENSP00000308534:L1404I	ENSP00000308534:L1404I	L	+	1	0	NBEA	34636623	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.389000	0.44407	2.734000	0.93682	0.650000	0.86243	CTC		0.353	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		A	35738623	C	A	35738623	3	1	824	1	0	0	0	0	1	0	0	0	10189	797	28	4	4304	4	NBEA	13	35738623	Missense_Mutation	SNP	C	TCGA-Y8-A8S1-01A-11D-A36X-10		35738623	79431255	44	49582											
MYH6	4624	hgsc.bcm.edu	37	14	23866283	23866283	+	Missense_Mutation	SNP	A	A	G			TCGA-Y8-A8S1-01A-11D-A36X-10	TCGA-Y8-A8S1-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5c980b27-02f4-4e7d-bc5f-59809f2cbfd0	99aa2435-d52d-45ef-a896-64a90cac0ad3	g.chr14:23866283A>G	ENST00000356287.3	-	17	2086	c.2057T>C	c.(2056-2058)aTg>aCg	p.M686T	MYH6_ENST00000405093.3_Missense_Mutation_p.M686T			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	686	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)		GGGGTTGTCCATCACCCCTGT	0.612																																																0													61	61	61					14																	23866283		2203	4300	6503	SO:0001583	missense	4624			D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"Myosins / Myosin superfamily : Class II"	7576	protein-coding gene	gene with protein product	"cardiomyopathy, hypertrophic 1"	160710	"myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.2057T>C	chr14.hg19:g.23866283A>G	ENSP00000348634:p.Met686Thr		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	hg19	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	.	18.14	3.557260	0.65425	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	T;T	0.71817	-0.6;-0.6	4.14	4.14	0.48551	Myosin head, motor domain (2);	.	.	.	.	D	0.86653	0.5984	M	0.93462	3.42	0.58432	D	0.999993	B	0.25007	0.116	P	0.49683	0.619	D	0.88270	0.2929	9	0.87932	D	0	.	13.6054	0.62044	1.0:0.0:0.0:0.0	.	686	P13533	MYH6_HUMAN	T	686	ENSP00000386041:M686T;ENSP00000348634:M686T	ENSP00000348634:M686T	M	-	2	0	MYH6	22936123	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	8.603000	0.90871	1.872000	0.54250	0.528000	0.53228	ATG		0.612	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			G	23866283	A	G	23866283	3	3	824	1	0	0	0	0	1	0	0	0	10040	217	8	3	3850	3	MYH6	14	23866283	Missense_Mutation	SNP	A	TCGA-Y8-A8S1-01A-11D-A36X-10		23866283	83483257	45	49583											
ATG2B	55102	hgsc.bcm.edu	37	14	96788562	96788562	+	Missense_Mutation	SNP	C	C	G			TCGA-Y8-A8S1-01A-11D-A36X-10	TCGA-Y8-A8S1-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5c980b27-02f4-4e7d-bc5f-59809f2cbfd0	99aa2435-d52d-45ef-a896-64a90cac0ad3	g.chr14:96788562C>G	ENST00000359933.4	-	18	3659	c.2766G>C	c.(2764-2766)atG>atC	p.M922I	snoU13_ENST00000458931.1_RNA	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	922					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)		p.M922I(1)		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)		GAAATTCTGTCATTTCTACAG	0.348																																																1	Substitution - Missense(1)	cervix(1)											118	113	114					14																	96788562		1840	4087	5927	SO:0001583	missense	55102			AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 103", "ATG2 autophagy related 2 homolog B (S. cerevisiae)"	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.2766G>C	chr14.hg19:g.96788562C>G	ENSP00000353010:p.Met922Ile		Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	hg19	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	C	31	5.076068	0.94000	.	.	ENSG00000066739	ENST00000359933	T	0.48522	0.81	5.98	5.98	0.97165	.	0.000000	0.85682	U	0.000000	T	0.68284	0.2984	M	0.69823	2.125	0.80722	D	1	D	0.54964	0.969	D	0.63381	0.914	T	0.64993	-0.6276	10	0.45353	T	0.12	.	20.4434	0.99119	0.0:1.0:0.0:0.0	.	922	Q96BY7	ATG2B_HUMAN	I	922	ENSP00000353010:M922I	ENSP00000353010:M922I	M	-	3	0	ATG2B	95858315	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.601000	0.82783	2.838000	0.97847	0.655000	0.94253	ATG		0.348	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		G	96788562	C	G	96788562	3	3	824	1	0	0	0	0	1	0	0	0	1094	826	29	4	3570	4	ATG2B	14	96788562	Missense_Mutation	SNP	C	TCGA-Y8-A8S1-01A-11D-A36X-10	72922279	96788562	10560978	46	49584											
MED1	5469	hgsc.bcm.edu	37	17	37565772	37565772	+	Missense_Mutation	SNP	T	T	C			TCGA-Y8-A8S1-01A-11D-A36X-10	TCGA-Y8-A8S1-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5c980b27-02f4-4e7d-bc5f-59809f2cbfd0	99aa2435-d52d-45ef-a896-64a90cac0ad3	g.chr17:37565772T>C	ENST00000300651.6	-	17	2925	c.2702A>G	c.(2701-2703)cAg>cGg	p.Q901R	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)		ATTTAGTGCCTGAGATGCAAA	0.408										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)											0													134	134	134					17																	37565772		2203	4300	6503	SO:0001583	missense	5469			L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"PPAR binding protein"	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.2702A>G	chr17.hg19:g.37565772T>C	ENSP00000300651:p.Gln901Arg		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000300651.6	hg19	CCDS11336.1	.	.	.	.	.	.	.	.	.	.	T	11.69	1.713193	0.30413	.	.	ENSG00000125686	ENST00000300651	T	0.36157	1.27	5.65	5.65	0.86999	.	.	.	.	.	T	0.23054	0.0557	N	0.14661	0.345	0.45806	D	0.99868	B	0.22346	0.068	B	0.15870	0.014	T	0.05053	-1.0909	9	0.49607	T	0.09	-6.8306	11.9583	0.52995	0.0:0.0:0.1446:0.8554	.	901	Q15648	MED1_HUMAN	R	901	ENSP00000300651:Q901R	ENSP00000300651:Q901R	Q	-	2	0	MED1	34819298	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.342000	0.52159	2.371000	0.80710	0.533000	0.62120	CAG		0.408	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256943.3	NM_004774		C	37565772	T	C	37565772	3	2	824	1	0	0	0	0	1	0	0	0	9427	1580	55	3	2047	3	MED1	17	37565772	Missense_Mutation	SNP	T	TCGA-Y8-A8S1-01A-11D-A36X-10		37565772	43629438	47	49585											
KIAA1267	284058	hgsc.bcm.edu	37	17	44248467	44248467	+	Missense_Mutation	SNP	C	C	A			TCGA-Y8-A8S1-01A-11D-A36X-10	TCGA-Y8-A8S1-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5c980b27-02f4-4e7d-bc5f-59809f2cbfd0	99aa2435-d52d-45ef-a896-64a90cac0ad3	g.chr17:44248467C>A	ENST00000262419.6	-	2	1513	c.1043G>T	c.(1042-1044)cGa>cTa	p.R348L	KANSL1_ENST00000432791.1_Missense_Mutation_p.R348L|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000572904.1_Missense_Mutation_p.R348L|KANSL1_ENST00000574590.1_Missense_Mutation_p.R348L|KANSL1_ENST00000575318.1_Missense_Mutation_p.R348L|KANSL1_ENST00000576248.1_5'UTR	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	348					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)											TTCAGCCTTTCGAGTCAGCAT	0.458																																																0													68	87	80					17																	44248467		2203	4300	6503	SO:0001583	missense	284058			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.1043G>T	chr17.hg19:g.44248467C>A	ENSP00000262419:p.Arg348Leu		A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Missense_Mutation	SNP	ENST00000262419.6	hg19	CCDS11503.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.434922	0.62955	.	.	ENSG00000120071	ENST00000262419;ENST00000432791	T;T	0.11495	2.77;2.77	5.94	5.94	0.96194	.	0.279693	0.33753	N	0.004596	T	0.22044	0.0531	L	0.27053	0.805	0.80722	D	1	P;D	0.57571	0.761;0.98	B;D	0.63877	0.151;0.919	T	0.00327	-1.1814	10	0.56958	D	0.05	-4.6431	18.9413	0.92607	0.0:1.0:0.0:0.0	.	348;348	C9JHY2;Q7Z3B3	.;K1267_HUMAN	L	348	ENSP00000262419:R348L;ENSP00000387393:R348L	ENSP00000262419:R348L	R	-	2	0	KIAA1267	41604244	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.359000	0.66074	2.826000	0.97356	0.561000	0.74099	CGA		0.458	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443		A	44248467	C	A	44248467	3	1	824	1	0	0	0	0	1	0	0	0	8221	884	31	4	2330	4	KIAA1267	17	44248467	Missense_Mutation	SNP	C	TCGA-Y8-A8S1-01A-11D-A36X-10	6682695	44248467	36946743	48	49586											
IMPACT	55364	hgsc.bcm.edu	37	18	22020542	22020542	+	Silent	SNP	G	G	C			TCGA-Y8-A8S1-01A-11D-A36X-10	TCGA-Y8-A8S1-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5c980b27-02f4-4e7d-bc5f-59809f2cbfd0	99aa2435-d52d-45ef-a896-64a90cac0ad3	g.chr18:22020542G>C	ENST00000284202.4	+	6	591	c.450G>C	c.(448-450)tcG>tcC	p.S150S	RP11-178F10.1_ENST00000579049.1_RNA	NM_018439.3	NP_060909	Q9P2X3	IMPCT_HUMAN	impact RWD domain protein	150					negative regulation of protein phosphorylation (GO:0001933)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)				endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)					CGGAAAGTTCGCTTAAAGCAT	0.363																																																0													160	151	154					18																	22020542		2203	4300	6503	SO:0001819	synonymous_variant	55364			AB026264	CCDS11886.1	18q11.2-q12.1	2012-12-07	2012-12-07		ENSG00000154059	ENSG00000154059			20387	protein-coding gene	gene with protein product	"RWD domain containing 5"	615319	"Impact homolog (mouse)"			11116084	Standard	NM_018439		Approved	RWDD5	uc002kvh.4	Q9P2X3	OTTHUMG00000131943	ENST00000284202.4:c.450G>C	chr18.hg19:g.22020542G>C			A8MXG0|Q49AM0|Q9H2X4	Silent	SNP	ENST00000284202.4	hg19	CCDS11886.1																																																																																				0.363	IMPACT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254901.1	NM_018439		C	22020542	G	C	22020542	2	2	824	1	0	0	0	0	0	0	0	1	7726	1074	38	4		4	IMPACT	18	22020542	Silent	SNP	G	TCGA-Y8-A8S1-01A-11D-A36X-10		22020542	56056706	49	49587											
DYM	54808	hgsc.bcm.edu	37	18	46889546	46889546	+	Missense_Mutation	SNP	G	G	C			TCGA-Y8-A8S1-01A-11D-A36X-10	TCGA-Y8-A8S1-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5c980b27-02f4-4e7d-bc5f-59809f2cbfd0	99aa2435-d52d-45ef-a896-64a90cac0ad3	g.chr18:46889546G>C	ENST00000269445.6	-	6	936	c.479C>G	c.(478-480)aCt>aGt	p.T160S	DYM_ENST00000442713.2_Intron|DYM_ENST00000578396.1_Missense_Mutation_p.T5S	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	160					bone development (GO:0060348)|Golgi organization (GO:0007030)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	enzyme binding (GO:0019899)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						TGGAATATCAGTGATCAACTG	0.363																																																0													110	107	108					18																	46889546		2203	4300	6503	SO:0001583	missense	54808			AK000078	CCDS11937.1	18q21.1	2008-03-12			ENSG00000141627	ENSG00000141627			21317	protein-coding gene	gene with protein product		607461					Standard	NM_017653		Approved	FLJ20071, DMC, SMC	uc002ldi.1	Q7RTS9	OTTHUMG00000132659	ENST00000269445.6:c.479C>G	chr18.hg19:g.46889546G>C	ENSP00000269445:p.Thr160Ser		A8K5I8|B2RCF9|B4DKI7|Q3ZTS8|Q6P2P5|Q8N2M0|Q9BVE9|Q9NPU7	Missense_Mutation	SNP	ENST00000269445.6	hg19	CCDS11937.1	.	.	.	.	.	.	.	.	.	.	G	12.00	1.806018	0.31961	.	.	ENSG00000141627	ENST00000269445	D	0.82711	-1.64	5.52	4.53	0.55603	.	0.114501	0.64402	D	0.000019	T	0.67335	0.2882	N	0.17082	0.46	0.26816	N	0.968889	B	0.10296	0.003	B	0.08055	0.003	T	0.55042	-0.8202	10	0.45353	T	0.12	-16.7362	6.2807	0.21005	0.1559:0.0:0.8441:0.0	.	160	Q7RTS9	DYM_HUMAN	S	160	ENSP00000269445:T160S	ENSP00000269445:T160S	T	-	2	0	DYM	45143544	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.136000	0.50554	2.590000	0.87494	0.650000	0.86243	ACT		0.363	DYM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255912.3	NM_017653		C	46889546	G	C	46889546	3	2	824	1	0	0	0	0	1	0	0	0	4842	1029	36	4	1578	4	DYM	18	46889546	Missense_Mutation	SNP	G	TCGA-Y8-A8S1-01A-11D-A36X-10	24869004	46889546	31187702	50	49588											
STAP2	55620	hgsc.bcm.edu	37	19	4332020	4332020	+	Splice_Site	SNP	T	T	G	rs74464159		TCGA-Y8-A8S1-01A-11D-A36X-10	TCGA-Y8-A8S1-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5c980b27-02f4-4e7d-bc5f-59809f2cbfd0	99aa2435-d52d-45ef-a896-64a90cac0ad3	g.chr19:4332020T>G	ENST00000594605.1	-	4	476	c.353A>C	c.(352-354)gAg>gCg	p.E118A	STAP2_ENST00000600324.1_Splice_Site_p.E118A	NM_001013841.1	NP_001013863.1	Q9UGK3	STAP2_HUMAN	signal transducing adaptor family member 2	118	PH.					cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		TACTCTTACCTCCACCACCGT	0.463																																																0													118	99	106					19																	4332020		2203	4300	6503	SO:0001630	splice_region_variant	55620			AJ245719	CCDS12128.1, CCDS45926.1	19p13.3	2011-05-03	2007-08-09		ENSG00000178078	ENSG00000178078			30430	protein-coding gene	gene with protein product		607881				10980601, 11441184	Standard	XM_005259592		Approved	STAP-2, BKS	uc002mac.3	Q9UGK3		ENST00000594605.1:c.354+1A>C	chr19.hg19:g.4332020T>G			A6NKK3|Q9NXI2	Missense_Mutation	SNP	ENST00000594605.1	hg19	CCDS45926.1	.	.	.	.	.	.	.	.	.	.	T	17.35	3.366418	0.61513	.	.	ENSG00000178078	ENST00000314714;ENST00000424810	.	.	.	4.06	4.06	0.47325	Pleckstrin homology domain (1);	0.235984	0.42053	D	0.000775	T	0.72961	0.3526	M	0.79475	2.455	0.35553	D	0.804074	D;D	0.76494	0.999;0.99	D;P	0.78314	0.991;0.768	T	0.81136	-0.1070	9	0.87932	D	0	-5.6986	9.6315	0.39782	0.0:0.0:0.0:1.0	.	118;118	Q9UGK3-2;Q9UGK3	.;STAP2_HUMAN	A	118	.	ENSP00000317912:E118A	E	-	2	0	STAP2	4283020	1.000000	0.71417	1.000000	0.80357	0.544000	0.35116	4.878000	0.63093	1.868000	0.54150	0.249000	0.18162	GAG		0.463	STAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458114.2	NM_001013841	Missense_Mutation	G	4332020	T	G	4332020	5	3	824	1	0	0	0	0	0	0	1	0	15258	1565	54	5	1036	5	STAP2	19	4332020	Splice_Site	SNP	T	TCGA-Y8-A8S1-01A-11D-A36X-10		4332020	54796963	51	49589											
TRIP10	9322	hgsc.bcm.edu	37	19	6744841	6744841	+	Missense_Mutation	SNP	T	T	C			TCGA-Y8-A8S1-01A-11D-A36X-10	TCGA-Y8-A8S1-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5c980b27-02f4-4e7d-bc5f-59809f2cbfd0	99aa2435-d52d-45ef-a896-64a90cac0ad3	g.chr19:6744841T>C	ENST00000313244.9	+	9	855	c.820T>C	c.(820-822)Tca>Cca	p.S274P	TRIP10_ENST00000596758.1_Missense_Mutation_p.S274P|TRIP10_ENST00000313285.8_Missense_Mutation_p.S274P|TRIP10_ENST00000600428.1_Missense_Mutation_p.S166P			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	274	F-BAR domain.				actin cytoskeleton organization (GO:0030036)|cell communication (GO:0007154)|endocytosis (GO:0006897)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						GCTGCACAAGTCAGGTTTTGC	0.632																																																0													87	84	85					19																	6744841		2203	4300	6503	SO:0001583	missense	9322			AB072596	CCDS12172.1, CCDS74271.1, CCDS74272.1	19p13.3	2008-02-05			ENSG00000125733	ENSG00000125733			12304	protein-coding gene	gene with protein product	"Cdc42-interacting protein"	604504	"salt tolerator"	STOT		7776974, 9210375, 11294612	Standard	XM_005259683		Approved	STP, HSTP, CIP4	uc002mfr.3	Q15642	OTTHUMG00000150255	ENST00000313244.9:c.820T>C	chr19.hg19:g.6744841T>C	ENSP00000320117:p.Ser274Pro		B2R8A6|B7WP22|D6W645|O15184|Q53G22|Q5TZN1|Q6FI24|Q8NFL1|Q8TCY1|Q8TDX3|Q96RJ1	Missense_Mutation	SNP	ENST00000313244.9	hg19		.	.	.	.	.	.	.	.	.	.	T	31	5.071840	0.93950	.	.	ENSG00000125733	ENST00000313285;ENST00000313244;ENST00000420690	T;T	0.45276	0.9;2.48	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.68183	0.2973	M	0.86502	2.82	0.80722	D	1	D;P;D	0.89917	1.0;0.939;0.998	D;P;D	0.85130	0.997;0.764;0.988	T	0.74636	-0.3599	10	0.87932	D	0	-11.9975	13.123	0.59338	0.0:0.0:0.0:1.0	.	274;274;274	G5E9U1;Q15642;Q15642-2	.;CIP4_HUMAN;.	P	274	ENSP00000320493:S274P;ENSP00000320117:S274P	ENSP00000320117:S274P	S	+	1	0	TRIP10	6695841	1.000000	0.71417	0.995000	0.50966	0.975000	0.68041	7.265000	0.78442	1.993000	0.58246	0.379000	0.24179	TCA		0.632	TRIP10-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000317129.2			C	6744841	T	C	6744841	3	2	824	1	0	0	0	0	1	0	0	0	16559	1667	58	3	854	3	TRIP10	19	6744841	Missense_Mutation	SNP	T	TCGA-Y8-A8S1-01A-11D-A36X-10	2412821	6744841	52384142	52	49590											
PRR12	57479	hgsc.bcm.edu	37	19	50119450	50119450	+	Missense_Mutation	SNP	C	C	T			TCGA-Y8-A8S1-01A-11D-A36X-10	TCGA-Y8-A8S1-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5c980b27-02f4-4e7d-bc5f-59809f2cbfd0	99aa2435-d52d-45ef-a896-64a90cac0ad3	g.chr19:50119450C>T	ENST00000418929.2	+	9	5483	c.5471C>T	c.(5470-5472)tCc>tTc	p.S1824F		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	1003							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)		GACTCGGAGTCCTCCCCTGGA	0.682																																																0													7	9	8					19																	50119450		1956	4080	6036	SO:0001583	missense	57479			AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"KIAA1205"	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.5471C>T	chr19.hg19:g.50119450C>T	ENSP00000394510:p.Ser1824Phe		E9PB06|Q8N4J6	Missense_Mutation	SNP	ENST00000418929.2	hg19	CCDS46143.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.767465	0.49574	.	.	ENSG00000126464	ENST00000418929;ENST00000246798;ENST00000314734	T	0.47528	0.84	4.75	4.75	0.60458	.	0.000000	0.51477	D	0.000084	T	0.62527	0.2435	L	0.57536	1.79	0.58432	D	0.999999	D	0.76494	0.999	D	0.85130	0.997	T	0.55964	-0.8057	10	0.13470	T	0.59	-24.7453	16.648	0.85181	0.0:1.0:0.0:0.0	.	1824	Q9ULL5-3	.	F	1824;1004;1004	ENSP00000394510:S1824F	ENSP00000246798:S1004F	S	+	2	0	PRR12	54811262	1.000000	0.71417	0.972000	0.41901	0.580000	0.36256	5.691000	0.68249	2.471000	0.83476	0.491000	0.48974	TCC		0.682	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		T	50119450	C	T	50119450	3	4	824	1	0	0	0	0	1	0	0	0	12589	855	30	2	5505	2	PRR12	19	50119450	Missense_Mutation	SNP	C	TCGA-Y8-A8S1-01A-11D-A36X-10	43374609	50119450	9009533	53	49591											
NLRP11	204801	hgsc.bcm.edu	37	19	56297223	56297223	+	Missense_Mutation	SNP	C	C	T			TCGA-Y8-A8S1-01A-11D-A36X-10	TCGA-Y8-A8S1-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5c980b27-02f4-4e7d-bc5f-59809f2cbfd0	99aa2435-d52d-45ef-a896-64a90cac0ad3	g.chr19:56297223C>T	ENST00000589093.1	-	10	2963	c.2870G>A	c.(2869-2871)gGc>gAc	p.G957D	NLRP11_ENST00000592953.1_Missense_Mutation_p.G858D|NLRP11_ENST00000443188.1_Missense_Mutation_p.G957D|NLRP11_ENST00000360133.3_Missense_Mutation_p.G903D|NLRP11_ENST00000589824.2_Missense_Mutation_p.G903D			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	957							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)		TGTGTTCAGGCCAGTTAATGG	0.433																																																0													64	64	64					19																	56297223		2203	4300	6503	SO:0001583	missense	204801			AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"Nucleotide-binding domain and leucine rich repeat containing"	22945	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"	609664	"NACHT, leucine rich repeat and PYD containing 11"	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.2870G>A	chr19.hg19:g.56297223C>T	ENSP00000466285:p.Gly957Asp		C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	ENST00000589093.1	hg19	CCDS12935.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.796267	0.00076	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.51574	0.7;0.7	1.4	-2.74	0.05932	.	.	.	.	.	T	0.18923	0.0454	N	0.10874	0.06	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.23368	-1.0190	9	0.07990	T	0.79	.	3.0249	0.06087	0.0:0.3766:0.2572:0.3663	.	957;903	P59045;P59045-2	NAL11_HUMAN;.	D	957;903	ENSP00000409898:G957D;ENSP00000353251:G903D	ENSP00000353251:G903D	G	-	2	0	NLRP11	60989035	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.588000	0.02106	-0.970000	0.03569	-2.317000	0.00253	GGC		0.433	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007		T	56297223	C	T	56297223	3	4	824	1	0	0	0	0	1	0	0	0	10475	739	26	2	235	2	NLRP11	19	56297223	Missense_Mutation	SNP	C	TCGA-Y8-A8S1-01A-11D-A36X-10	6177773	56297223	2831760	54	49592											
MYBL2	4605	hgsc.bcm.edu	37	20	42338684	42338684	+	Silent	SNP	C	C	T			TCGA-Y8-A8S1-01A-11D-A36X-10	TCGA-Y8-A8S1-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5c980b27-02f4-4e7d-bc5f-59809f2cbfd0	99aa2435-d52d-45ef-a896-64a90cac0ad3	g.chr20:42338684C>T	ENST00000217026.4	+	10	1714	c.1587C>T	c.(1585-1587)taC>taT	p.Y529Y	MYBL2_ENST00000396863.4_Silent_p.Y505Y	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	529					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|spindle assembly involved in mitosis (GO:0090307)	Myb complex (GO:0031523)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TGGAGAAGTACGGACCCCTGA	0.592																																																0													153	151	152					20																	42338684		2203	4300	6503	SO:0001819	synonymous_variant	4605				CCDS13322.1, CCDS63276.1	20q13.1	2013-07-09	2013-07-09		ENSG00000101057	ENSG00000101057			7548	protein-coding gene	gene with protein product		601415				8812502	Standard	NM_002466		Approved	BMYB, B-MYB	uc002xlb.1	P10244	OTTHUMG00000033062	ENST00000217026.4:c.1587C>T	chr20.hg19:g.42338684C>T			B2RBS5|B7Z8D9|F8W6N6|Q53F07	Silent	SNP	ENST00000217026.4	hg19	CCDS13322.1																																																																																				0.592	MYBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080408.1	NM_002466		T	42338684	C	T	42338684	2	4	824	1	0	0	0	0	0	0	0	1	10012	547	19	1		1	MYBL2	20	42338684	Silent	SNP	C	TCGA-Y8-A8S1-01A-11D-A36X-10		42338684	20686836	55	49593											
